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	G	C	tCw	wGa	tC	Ga	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	g_counts	c_counts	tcw_counts	wga_counts	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
RNF207	388591	broad.mit.edu	37	chr1	6279452	6279452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgatgtccccacatggagGgaacacccgacttagcaaat	11	12	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:6279452G>A	ENST00000377939.4	+	18	2017	c.1890G>A	c.(1888-1890)agG>agA	p.R630R	RNF207_ENST00000377948.2_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	630						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCACATGGAGGGAACACCCGA	0.532													False	0	True	1:6279452	0	A	6279452	G	A	6279452	2	1	1	1	0	0	0	0	0	0	0	1	13553	1223	43	2		2	RNF207	1	6279452	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		6279452	242971169	1	1											
OPRD1	4985	broad.mit.edu	37	chr1	29189523	29189523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccacatcttcgtcatcGtctggacgctggtggacatc	9	14	3	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:29189523G>A	ENST00000234961.2	+	3	1089	c.847G>A	c.(847-849)Gtc>Atc	p.V283I		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	283					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CTTCGTCATCGTCTGGACGCT	0.662													False	0	False	1:29189523	0	A	29189523	G	A	29189523	3	1	1	1	0	0	0	0	1	0	0	0	10952	1145	40	1	857	1	OPRD1	1	29189523	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	22910071	29189523	220061098	2	2											
CSMD2	114784	broad.mit.edu	37	chr1	34286109	34286109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgcccctttcgggtatgCcagggtctggacacatatta	10	10	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:34286109C>T	ENST00000373381.4	-	8	1336	c.1160G>A	c.(1159-1161)gGc>gAc	p.G387D		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	347	Sushi 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTCGGGTATGCCAGGGTCTGG	0.448													False	0	False	1:34286109	0	T	34286109	C	T	34286109	3	4	1	1	0	0	0	0	1	0	0	0	3970	739	26	2	9671	2	CSMD2	1	34286109	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	5096586	34286109	214964512	3	3											
LHX8	431707	broad.mit.edu	37	chr1	75622617	75622617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcacgccacaagaaacacGtcagtcctaatcactcatcc	6	15	3	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:75622617G>A	ENST00000294638.5	+	9	1514	c.850G>A	c.(850-852)Gtc>Atc	p.V284I	LHX8_ENST00000356261.3_Missense_Mutation_p.V274I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	284						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAAGAAACACGTCAGTCCTAA	0.502													False	0	False	1:75622617	0	A	75622617	G	A	75622617	3	1	1	1	0	0	0	0	1	0	0	0	8828	1145	40	1	880	1	LHX8	1	75622617	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	41336508	75622617	173628004	4	4											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334298	77334298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcaacagcagcagcaggcgtc	13	14	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:77334298G>A	ENST00000477717.1	+	2	367	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	44	Poly-Gln.				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						agcagcagcagcaacagcagc	0.711													False	0	True	1:77334298	0	A	77334298	G	A	77334298	2	1	1	1	0	0	0	0	0	0	0	1	15309	962	34	2		2	ST6GALNAC5	1	77334298	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	1711681	77334298	171916323	5	5											
ABCA4	24	broad.mit.edu	37	chr1	94497517	94497517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagcagacattggagtcCtggggtgtctgtccagcctt	16	9	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:94497517C>T	ENST00000370225.3	-	27	4031	c.3945G>A	c.(3943-3945)caG>caA	p.Q1315Q		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1315					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATTGGAGTCCTGGGGTGTCT	0.632													False	0	False	1:94497517	0	T	94497517	C	T	94497517	2	4	1	1	0	0	0	0	0	0	0	1	34	680	24	2		2	ABCA4	1	94497517	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	17163219	94497517	154753104	6	6											
DPYD	1806	broad.mit.edu	37	chr1	98205957	98205957	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatttaccttgtttgcAatacttgtgatgaatgattt	7	5	1	4			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:98205957A>C	ENST00000370192.3	-	4	412	c.312T>G	c.(310-312)atT>atG	p.I104M	DPYD_ENST00000423006.2_Missense_Mutation_p.I67M|DPYD_ENST00000306031.5_Missense_Mutation_p.I104M	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	104					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCTTGTTTGCAATACTTGTGA	0.343													False	0	False	1:98205957	0	C	98205957	A	C	98205957	3	2	1	1	0	0	0	0	1	0	0	0	4775	126	5	4	2888	4	DPYD	1	98205957	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	3708440	98205957	151044664	7	7											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454068	114454068	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactccgagcttcgtgcctTtgtcgcagcactgaagcctt	9	13	0	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:114454068T>G	ENST00000369563.3	+	4	1300	c.854T>G	c.(853-855)tTt>tGt	p.F285C	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	285					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCGTGCCTTTGTCGCAGCA	0.567								Other identified genes with known or suspected DNA repair function					False	0	True	1:114454068	0	G	114454068	T	G	114454068	3	3	1	1	0	0	0	0	1	0	0	0	4320	1841	64	4	868	4	DCLRE1B	1	114454068	Missense_Mutation	SNP	T	TCGA-2J-AAB1-01A-11D-A40W-08	16248111	114454068	134796553	8	8											
SPAG17	200162	broad.mit.edu	37	chr1	118550780	118550780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagcgtgagctttctacccGcatacacttcacctgcctgg	8	14	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:118550780G>A	ENST00000336338.5	-	31	4539	c.4474C>T	c.(4474-4476)Cgg>Tgg	p.R1492W		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1492						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTTCTACCCGCATACACTTC	0.493													False	0	True	1:118550780	0	A	118550780	G	A	118550780	3	1	1	1	0	0	0	0	1	0	0	0	15061	1086	38	1	2269	1	SPAG17	1	118550780	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	4096712	118550780	130699841	9	9											
SV2A	0	broad.mit.edu	37	chr1	149877463	149877463	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggtagagttcaacagtcaAcacgtccagcgcattccagg	12	11	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:149877463A>C	ENST00000369146.3	-	12	2504	c.2014T>G	c.(2014-2016)Ttg>Gtg	p.L672V	SV2A_ENST00000369145.1_Missense_Mutation_p.L672V	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	672					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCAACAGTCAACACGTCCAGC	0.557													False	0	False	1:149877463	0	C	149877463	A	C	149877463	3	2	1	1	0	0	0	0	1	0	0	0	15499	40	2	4	222	4	SV2A	1	149877463	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	31326683	149877463	99373158	10	10											
CRNN	49860	broad.mit.edu	37	chr1	152382863	152382863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacctgcctgggtctgaGttccagatccagtcacagtc	11	13	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:152382863G>A	ENST00000271835.3	-	3	757	c.695C>T	c.(694-696)aCt>aTt	p.T232I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	232	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGGTCTGAGTTCCAGATCC	0.572													False	0	False	1:152382863	0	A	152382863	G	A	152382863	3	1	1	1	0	0	0	0	1	0	0	0	3915	1029	36	2	796	2	CRNN	1	152382863	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	2505400	152382863	96867758	11	11											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	1	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-2J-AAB1-01A-11D-A40W-08	288652	152671515	96579106	12	12											
S100A8	6279	broad.mit.edu	37	chr1	153362970	153362970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagtacttgtggtagacGtcgatgatagagttcaaggc	15	5	1	3			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:153362970G>A	ENST00000368733.3	-	2	211	c.42C>T	c.(40-42)gaC>gaT	p.D14D	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Silent_p.D14D	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	14	EF-hand 1.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGGTAGACGTCGATGATAG	0.507													False	0	False	1:153362970	0	A	153362970	G	A	153362970	2	1	1	1	0	0	0	0	0	0	0	1	13865	1136	40	1		1	S100A8	1	153362970	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	691455	153362970	95887651	13	13											
OLFML2B	25903	broad.mit.edu	37	chr1	161953983	161953983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgttgcgggtgaaggcgcGattgtagtagaaggcgccat	17	6	0	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:161953983G>A	ENST00000294794.3	-	8	2158	c.1735C>T	c.(1735-1737)Cgc>Tgc	p.R579C	OLFML2B_ENST00000367938.1_Missense_Mutation_p.R62C|OLFML2B_ENST00000367940.2_Missense_Mutation_p.R580C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	579	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGAAGGCGCGATTGTAGTAG	0.597													False	0	False	1:161953983	0	A	161953983	G	A	161953983	3	1	1	1	0	0	0	0	1	0	0	0	10926	1058	37	1	521	1	OLFML2B	1	161953983	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	8591013	161953983	87296638	14	14											
ELF3	1999	broad.mit.edu	37	chr1	201981145	201981145	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagacgcaggttctggactGgatcagctaccaagtggaga	14	8	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr1:201981145G>A	ENST00000359651.3	+	2	3416	c.224G>A	c.(223-225)tGg>tAg	p.W75*	ELF3_ENST00000367283.3_Nonsense_Mutation_p.W75*|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367284.5_Nonsense_Mutation_p.W75*			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	75	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GTTCTGGACTGGATCAGCTAC	0.577													False	0	True	1:201981145	0	A	201981145	G	A	201981145	4	1	1	1	0	0	0	0	0	1	0	0	5087	1357	47	2	230	2	ELF3	1	201981145	Nonsense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	40027162	201981145	47269476	15	15											
PLEK	5341	broad.mit.edu	37	chr2	68622834	68622834	+	Frame_Shift_Del	DEL	C	C	-													aggaagagtgaggaagagaaCctttttgagatcatcacagc							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:68622834delC	ENST00000234313.7	+	9	1118	c.939delC	c.(937-939)aacfs	p.N313fs		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	313	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGGAAGAGAACCTTTTTGAGA	0.542													False	2	False	2:68622834	0	-	68622834	C	-	68622834	7	5	1	1	0	1	0	1	0	0	0	0	12122	506	18	0	973	0	PLEK	2	68622834	Frame_Shift_Del	DEL	C	TCGA-2J-AAB1-01A-11D-A40W-08		68622834	174576539	16	16											
RGPD3	653489	broad.mit.edu	37	chr2	107084691	107084691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttcgaggcgacggggcGgagccctgcaccgaggcgac	16	14	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:107084691G>A	ENST00000409886.3	-	1	141	c.54C>T	c.(52-54)tcC>tcT	p.S18S	RGPD3_ENST00000304514.7_Silent_p.S18S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	18					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCGACGGGGCGGAGCCCTGCA	0.721													False	0	False	2:107084691	0	A	107084691	G	A	107084691	2	1	1	1	0	0	0	0	0	0	0	1	13366	1103	39	1		1	RGPD3	2	107084691	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	38461857	107084691	136114682	17	17											
GLI2	2736	broad.mit.edu	37	chr2	121740416	121740416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagccttctccaacgcctCggaccgcgccaagcaccaga	8	18	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:121740416C>T	ENST00000452319.1	+	11	1703	c.1643C>T	c.(1642-1644)tCg>tTg	p.S548L	GLI2_ENST00000314490.11_Missense_Mutation_p.S220L|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.S548L			P10070	GLI2_HUMAN	GLI family zinc finger 2	548					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCAACGCCTCGGACCGCGCC	0.637													False	0	False	2:121740416	0	T	121740416	C	T	121740416	3	4	1	1	0	0	0	0	1	0	0	0	6483	893	31	1	1681	1	GLI2	2	121740416	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	14655725	121740416	121458957	18	18											
EPC2	26122	broad.mit.edu	37	chr2	149542414	149542414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgacaaatgcagtgcAcctcaataatgtcagtgttg	9	10	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:149542414A>G	ENST00000258484.6	+	13	2229	c.2195A>G	c.(2194-2196)cAc>cGc	p.H732R		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	732					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AATGCAGTGCACCTCAATAAT	0.473													False	0	False	2:149542414	0	G	149542414	A	G	149542414	3	3	1	1	0	0	0	0	1	0	0	0	5193	159	6	4	2245	4	EPC2	2	149542414	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	27801998	149542414	93656959	19	19											
TANC1	85461	broad.mit.edu	37	chr2	160087288	160087288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atataataaccaagccaaaaCctgttctgtttctaccctga	4	11	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:160087288C>T	ENST00000263635.6	+	27	5588	c.5351C>T	c.(5350-5352)aCc>aTc	p.T1784I	TANC1_ENST00000454300.1_Missense_Mutation_p.T1678I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1784						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAAGCCAAAACCTGTTCTGTT	0.498													False	0	True	2:160087288	0	T	160087288	C	T	160087288	3	4	1	1	0	0	0	0	1	0	0	0	15626	507	18	2	5454	2	TANC1	2	160087288	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	10544874	160087288	83112085	20	20											
PDE11A	50940	broad.mit.edu	37	chr2	178762794	178762794	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agataacttactggtgattcGatgtcctctaggagtaaaac	9	7	1	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:178762794G>A	ENST00000286063.6	-	4	1610	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	PDE11A_ENST00000449286.2_Silent_p.I73I|PDE11A_ENST00000358450.4_Silent_p.I181I|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Silent_p.I73I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A		GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.I431I(2)|p.I181I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTGGTGATTCGATGTCCTCTA	0.348									Primary Pigmented Nodular Adrenocortical Disease, Familial				False	0	False	2:178762794	0	A	178762794	G	A	178762794	2	1	1	1	0	0	0	0	0	0	0	1	11699	1048	37	1		1	PDE11A	2	178762794	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	18675506	178762794	64436579	21	21											
SF3B1	23451	broad.mit.edu	37	chr2	198267359	198267359	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atagctatctgttgtacaatCttaataccagtgtgtctcgc	7	9	3	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:198267359C>G	ENST00000335508.6	-	14	2089	c.1998G>C	c.(1996-1998)aaG>aaC	p.K666N		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.K666N(19)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTACAATCTTAATACCAG	0.413			Mis		myelodysplastic syndrome								False	0	False	2:198267359	0	G	198267359	C	G	198267359	3	3	1	1	0	0	0	0	1	0	0	0	14230	912	32	5	1964	5	SF3B1	2	198267359	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	19504565	198267359	44932014	22	22											
ZDBF2	57683	broad.mit.edu	37	chr2	207175041	207175041	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaggcctcctaagcaaaAggggcgtgtggcttctcaat	13	9	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:207175041A>G	ENST00000374423.3	+	5	6175	c.5789A>G	c.(5788-5790)aAg>aGg	p.K1930R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1930							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTAAGCAAAAGGGGCGTGTG	0.428													False	0	True	2:207175041	0	G	207175041	A	G	207175041	3	3	1	1	0	0	0	0	1	0	0	0	17682	72	3	4	5799	4	ZDBF2	2	207175041	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	8907682	207175041	36024332	23	23											
ACADL	33	broad.mit.edu	37	chr2	211070474	211070474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttcatgatttgtgaccGcaactacaatcacaacatca	6	11	3	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:211070474G>A	ENST00000233710.3	-	6	877	c.650C>T	c.(649-651)gCg>gTg	p.A217V	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	217					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATTTGTGACCGCAACTACAAT	0.398													False	0	False	2:211070474	0	A	211070474	G	A	211070474	3	1	1	1	0	0	0	0	1	0	0	0	112	1087	38	1	666	1	ACADL	2	211070474	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	3895433	211070474	32128899	24	24											
DNPEP	23549	broad.mit.edu	37	chr2	220239025	220239025	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagagggctcaatccactaAgagattatggcttagagaag	11	7	1	3			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr2:220239025A>C	ENST00000273075.4	-	15	1667	c.1447T>G	c.(1447-1449)Tta>Gta	p.L483V	DNPEP_ENST00000523282.1_Missense_Mutation_p.L491V|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000373972.1_Missense_Mutation_p.L408V	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	473					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CAATCCACTAAGAGATTATGG	0.473													False	0	False	2:220239025	0	C	220239025	A	C	220239025	3	2	1	1	0	0	0	0	1	0	0	0	4709	69	3	4	14	4	DNPEP	2	220239025	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	9168551	220239025	22960348	25	25											
TGFBR2	7048	broad.mit.edu	37	chr3	30732957	30732957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgactgagtgctgggaccacGacccagaggcccgtctcaca	12	14	1	3			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:30732957G>T	ENST00000295754.5	+	7	1952	c.1570G>T	c.(1570-1572)Gac>Tac	p.D524Y	TGFBR2_ENST00000359013.4_Missense_Mutation_p.D549Y	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	524	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.D524N(1)|p.D524Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CTGGGACCACGACCCAGAGGC	0.607													False	0	False	3:30732957	0	T	30732957	G	T	30732957	3	4	1	1	0	0	0	0	1	0	0	0	15904	1058	37	3	1675	3	TGFBR2	3	30732957	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		30732957	167289473	26	26											
DOCK3	1795	broad.mit.edu	37	chr3	51400102	51400102	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgccccttccagtgccCgaggtaaggatggcagggtg	14	13	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:51400102C>T	ENST00000266037.9	+	49	5313	c.5290C>T	c.(5290-5292)Cga>Tga	p.R1764*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1764	Ser-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTCCAGTGCCCGAGGTAAGGA	0.562													False	0	True	3:51400102	0	T	51400102	C	T	51400102	4	4	1	1	0	0	0	0	0	1	0	0	4718	644	23	1	5484	1	DOCK3	3	51400102	Nonsense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	20667145	51400102	146622328	27	27											
TBC1D23	55773	broad.mit.edu	37	chr3	100016873	100016873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtcagagatccttcaagCgaatcagctacaaggggtaa	11	9	3	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:100016873C>T	ENST00000394144.4	+	9	990	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TBC1D23_ENST00000475134.1_Missense_Mutation_p.A191V|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.A328V	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	328						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						ATCCTTCAAGCGAATCAGCTA	0.443													False	0	False	3:100016873	0	T	100016873	C	T	100016873	3	4	1	1	0	0	0	0	1	0	0	0	15695	768	27	1	1017	1	TBC1D23	3	100016873	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	48616771	100016873	98005557	28	28											
EIF2B5	8893	broad.mit.edu	37	chr3	183855998	183855998	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggaggttcgatatgaTttactggattgtcatatcag	13	4	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:183855998T>C	ENST00000273783.3	+	5	851	c.729T>C	c.(727-729)gaT>gaC	p.D243D	EIF2B5_ENST00000444495.1_Silent_p.D243D	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	243					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TTCGATATGATTTACTGGATT	0.478													False	0	True	3:183855998	0	C	183855998	T	C	183855998	2	2	1	1	0	0	0	0	0	0	0	1	5034	1490	52	4		4	EIF2B5	3	183855998	Silent	SNP	T	TCGA-2J-AAB1-01A-11D-A40W-08	83839125	183855998	14166432	29	29											
LRCH3	84859	broad.mit.edu	37	chr3	197544071	197544071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaactgtcaacattgccGgtacacttgtgtaatttgcc	7	11	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr3:197544071G>A	ENST00000438796.2	+	3	476	c.432G>A	c.(430-432)ccG>ccA	p.P144P	LRCH3_ENST00000425562.2_Silent_p.P144P|LRCH3_ENST00000414675.2_Silent_p.P144P|LRCH3_ENST00000334859.4_Silent_p.P144P|LRCH3_ENST00000441090.2_Intron			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	144						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CAACATTGCCGGTACACTTGT	0.378													False	0	False	3:197544071	0	A	197544071	G	A	197544071	2	1	1	1	0	0	0	0	0	0	0	1	8996	1103	39	1		1	LRCH3	3	197544071	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	13688073	197544071	478359	30	30											
GABRA4	2557	broad.mit.edu	37	chr4	46979145	46979145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaatctcatgggacactcCgcacttatggtgagtctatg	9	11	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr4:46979145C>T	ENST00000264318.3	-	5	1492	c.510G>A	c.(508-510)gcG>gcA	p.A170A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	170					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGGACACTCCGCACTTATGG	0.343													False	0	False	4:46979145	0	T	46979145	C	T	46979145	2	4	1	1	0	0	0	0	0	0	0	1	6205	639	23	1		1	GABRA4	4	46979145	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		46979145	144175131	31	31											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68699089	68699089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttattaggtctggaccGgccccacattctaatgagaa	9	9	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr4:68699089G>A	ENST00000283916.6	-	7	623	c.525C>T	c.(523-525)gcC>gcT	p.A175A	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_Silent_p.A58A	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	175					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTCTGGACCGGCCCCACATT	0.463													False	0	False	4:68699089	0	A	68699089	G	A	68699089	2	1	1	1	0	0	0	0	0	0	0	1	16323	1103	39	1		1	TMPRSS11D	4	68699089	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	21719944	68699089	122455187	32	32											
ADAMTS16	170690	broad.mit.edu	37	chr5	5242275	5242275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacacttgggccatcgtgcGctctgagtgctccgtgtcct	11	14	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:5242275G>A	ENST00000274181.7	+	17	2771	c.2633G>A	c.(2632-2634)cGc>cAc	p.R878H		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	878	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCATCGTGCGCTCTGAGTGC	0.642													False	0	False	5:5242275	0	A	5242275	G	A	5242275	3	1	1	1	0	0	0	0	1	0	0	0	261	1087	38	1	2699	1	ADAMTS16	5	5242275	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		5242275	175672985	33	33											
SEMA5A	9037	broad.mit.edu	37	chr5	9197372	9197372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaaggcctgcgcgatggCgctcaggttgaagacgcaca	15	10	1	3			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:9197372C>T	ENST00000382496.5	-	10	1641	c.976G>A	c.(976-978)Gcc>Acc	p.A326T		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	326	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGCGCGATGGCGCTCAGGTTG	0.597													False	0	False	5:9197372	0	T	9197372	C	T	9197372	3	4	1	1	0	0	0	0	1	0	0	0	14118	768	27	1	2304	1	SEMA5A	5	9197372	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	3955097	9197372	171717888	34	34											
APC	324	broad.mit.edu	37	chr5	112176765	112176765	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taattccaaggtcttcaatgAtaagctcccaaataatgaag	6	8	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:112176765A>G	ENST00000457016.1	+	16	5854	c.5474A>G	c.(5473-5475)gAt>gGt	p.D1825G	APC_ENST00000508376.2_Missense_Mutation_p.D1825G|APC_ENST00000257430.4_Missense_Mutation_p.D1825G|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1825	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTCTTCAATGATAAGCTCCCA	0.333		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			False	0	False	5:112176765	0	G	112176765	A	G	112176765	3	3	1	1	0	0	0	0	1	0	0	0	765	333	12	4	5532	4	APC	5	112176765	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	102979393	112176765	68738495	35	35											
ETF1	2107	broad.mit.edu	37	chr5	137844426	137844426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctgtgacaatttccaacGtagctccaaattttttatag	5	8	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:137844426G>A	ENST00000499810.2	-	10	1512	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	ETF1_ENST00000503014.1_Missense_Mutation_p.T374M|ETF1_ENST00000360541.5_Missense_Mutation_p.T388M	NM_001256302.1|NM_001282185.1	NP_001243231.1|NP_001269114.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	388					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AATTTCCAACGTAGCTCCAAA	0.413													False	0	False	5:137844426	0	A	137844426	G	A	137844426	3	1	1	1	0	0	0	0	1	0	0	0	5300	1145	40	1	158	1	ETF1	5	137844426	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	25667661	137844426	43070834	36	36											
PCDHA9	0	broad.mit.edu	37	chr5	140229874	140229874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaggtgcgcgcagtggaCgccgactcgggctacaacgc	17	12	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:140229874C>T	ENST00000378122.3	+	1	2518	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.D598D|PCDHA8_ENST00000531613.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCAGTGGACGCCGACTCGG	0.672													False	0	False	5:140229874	0	T	140229874	C	T	140229874	2	4	1	1	0	0	0	0	0	0	0	1	11599	535	19	1		1	PCDHA9	5	140229874	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	2385448	140229874	40685386	37	37											
PCDHA9	0	broad.mit.edu	37	chr5	140230003	140230003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgccctggacgaaacggaCgcaccgcgccagcgcctact	12	17	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:140230003C>T	ENST00000378122.3	+	1	2647	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.D641D|PCDHA8_ENST00000531613.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGAAACGGACGCACCGCGCC	0.682													False	0	False	5:140230003	0	T	140230003	C	T	140230003	2	4	1	1	0	0	0	0	0	0	0	1	11599	535	19	1		1	PCDHA9	5	140230003	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	129	140230003	40685257	38	38											
GLRA1	2741	broad.mit.edu	37	chr5	151271898	151271898	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattgggcctgatcctggcaTcatatccggaggttctcccc	10	13	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:151271898T>A	ENST00000274576.4	-	2	450	c.158A>T	c.(157-159)gAt>gTt	p.D53V	GLRA1_ENST00000455880.2_Missense_Mutation_p.D53V|GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000471351.2_5'UTR	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	53					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GATCCTGGCATCATATCCGGA	0.498													False	0	False	5:151271898	0	A	151271898	T	A	151271898	3	1	1	1	0	0	0	0	1	0	0	0	6499	1435	50	5	1247	5	GLRA1	5	151271898	Missense_Mutation	SNP	T	TCGA-2J-AAB1-01A-11D-A40W-08	11041895	151271898	29643362	39	39											
GEMIN5	25929	broad.mit.edu	37	chr5	154292538	154292538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacactggtaatcttggccGtatgccctgagagggtccgg	13	12	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:154292538G>A	ENST00000285873.7	-	14	1991	c.1916C>T	c.(1915-1917)aCg>aTg	p.T639M		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	639					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATCTTGGCCGTATGCCCTGA	0.522													False	0	False	5:154292538	0	A	154292538	G	A	154292538	3	1	1	1	0	0	0	0	1	0	0	0	6376	1145	40	1	2670	1	GEMIN5	5	154292538	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	3020640	154292538	26622722	40	40											
GRM6	2916	broad.mit.edu	37	chr5	178413623	178413623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacctggaagcggtacccGtcacaggcctcgcagtgcca	11	16	1	0	rs139758482		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr5:178413623G>A	ENST00000231188.5	-	8	1810	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.D544D	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	544					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGCGGTACCCGTCACAGGCCT	0.682													False	0	True	5:178413623	0	A	178413623	G	A	178413623	2	1	1	1	0	0	0	0	0	0	0	1	6848	1136	40	1		1	GRM6	5	178413623	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	24121085	178413623	2501637	41	41											
GPR6	0	broad.mit.edu	37	chr6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-													tggtagtggcggccgaaggaGcggcggcggcggccacagca							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.					integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712													False	1	True	6:110300376	0	-	110300435	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	110300376	7	5	1	1	0	1	0	1	0	0	0	0	6747	971	34	0	63	0	GPR6	6	110300376	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	TCGA-2J-AAB1-01A-11D-A40W-08		110300376	60814691	42	42											
T	6862	broad.mit.edu	37	chr6	166574388	166574388	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgctgggatgggcaggcattCcaaggctggaccaattgtca	14	9	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr6:166574388C>A	ENST00000296946.2	-	8	1439	c.971G>T	c.(970-972)gGa>gTa	p.G324V	T_ENST00000366871.3_Missense_Mutation_p.G266V	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	324					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGCAGGCATTCCAAGGCTGGA	0.522									Chordoma, Familial Clustering of				False	0	False	6:166574388	0	A	166574388	C	A	166574388	3	1	1	1	0	0	0	0	1	0	0	0	15570	855	30	3	344	3	T	6	166574388	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	56274012	166574388	4540679	43	43											
USP42	84132	broad.mit.edu	37	chr7	6185257	6185257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacactggttttaattgCcatgctggccattacttctg	8	11	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:6185257C>T	ENST00000306177.5	+	10	1259	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	367					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GTTTTAATTGCCATGCTGGCC	0.423													False	0	False	7:6185257	0	T	6185257	C	T	6185257	2	4	1	1	0	0	0	0	0	0	0	1	17157	747	26	2		2	USP42	7	6185257	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		6185257	152953406	44	44											
KCND2	3751	broad.mit.edu	37	chr7	119914985	119914985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatcctgaatttctaccGcactgggaagctccactatc	6	15	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:119914985G>A	ENST00000331113.4	+	1	1264	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	100					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AATTTCTACCGCACTGGGAAG	0.522													False	0	False	7:119914985	0	A	119914985	G	A	119914985	3	1	1	1	0	0	0	0	1	0	0	0	8069	1087	38	1	301	1	KCND2	7	119914985	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	113729728	119914985	39223678	45	45											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651648	121651648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaagttacttcagctaccGagagtgataaggtgcccttg	10	10	1	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:121651648G>A	ENST00000393386.2	+	12	2959	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	850					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.E850K(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTCAGCTACCGAGAGTGATAA	0.478													False	0	False	7:121651648	0	A	121651648	G	A	121651648	3	1	1	1	0	0	0	0	1	0	0	0	12893	1059	37	1	2594	1	PTPRZ1	7	121651648	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	1736663	121651648	37487015	46	46											
SSPO	23145	broad.mit.edu	37	chr7	149513539	149513539	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctgcgcccacgtcacGcagcaggtgggctgcttctc	11	16	3	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:149513539G>A	ENST00000378016.2	+	0	11160							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCACGTCACGCAGCAGGTGG	0.692													False	0	False	7:149513539	0	A	149513539	G	A	149513539	1	1	1	0	1	0	0	0	0	0	0	0	15271	1074	38	1		1	SSPO	7	149513539	RNA	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	27861891	149513539	9625124	47	47											
GBX1	2636	broad.mit.edu	37	chr7	150845978	150845978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtaaatgctgtgcggcGccgtcggcttttccccccag	13	14	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr7:150845978G>A	ENST00000297537.4	-	2	789	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	264						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGTGCGGCGCCGTCGGCTT	0.582													False	0	False	7:150845978	0	A	150845978	G	A	150845978	3	1	1	1	0	0	0	0	1	0	0	0	6323	1087	38	1	304	1	GBX1	7	150845978	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	1332439	150845978	8292685	48	48											
KIF24	347240	broad.mit.edu	37	chr9	34256356	34256356	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acaactgggccccctgtgctCtctgccactagactgtgcgt	10	15	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:34256356C>G	ENST00000379166.2	-	11	3368	c.3249G>C	c.(3247-3249)gaG>gaC	p.E1083D	KIF24_ENST00000345050.2_Missense_Mutation_p.E949D|KIF24_ENST00000402558.2_Missense_Mutation_p.E1083D|KIF24_ENST00000379174.3_Missense_Mutation_p.E949D	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1083					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCCCTGTGCTCTCTGCCACTA	0.602													False	0	True	9:34256356	0	G	34256356	C	G	34256356	3	3	1	1	0	0	0	0	1	0	0	0	8342	912	32	5	869	5	KIF24	9	34256356	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		34256356	106957075	49	49											
ROR2	4920	broad.mit.edu	37	chr9	94493239	94493239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtacgtttttattctgcGtaaagcaccaggggccctcc	10	12	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:94493239G>A	ENST00000375708.3	-	7	1334	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	ROR2_ENST00000375715.1_Missense_Mutation_p.T239M|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	379	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTTATTCTGCGTAAAGCACCA	0.527													False	0	False	9:94493239	0	A	94493239	G	A	94493239	3	1	1	1	0	0	0	0	1	0	0	0	13606	1145	40	1	1707	1	ROR2	9	94493239	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	60236883	94493239	46720192	50	50											
EPB41L4B	54566	broad.mit.edu	37	chr9	111970268	111970268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttacacttcacatgatccGcaacaggggaaggcaaaagt	10	9	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr9:111970268G>A	ENST00000374566.3	-	18	2331	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	605						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACATGATCCGCAACAGGGGA	0.423													False	0	False	9:111970268	0	A	111970268	G	A	111970268	3	1	1	1	0	0	0	0	1	0	0	0	5188	1087	38	1	924	1	EPB41L4B	9	111970268	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	17477029	111970268	29243163	51	51											
WDR37	22884	broad.mit.edu	37	chr10	1149626	1149626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgactgccccaccatcCgcgtcccactgacatccctc	6	22	0	1	rs150728900		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:1149626C>A	ENST00000358220.1	+	10	955	c.811C>A	c.(811-813)Cgc>Agc	p.R271S	WDR37_ENST00000263150.4_Missense_Mutation_p.R271S			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	271										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CCCCACCATCCGCGTCCCACT	0.622													False	0	False	10:1149626	0	A	1149626	C	A	1149626	3	1	1	1	0	0	0	0	1	0	0	0	17375	652	23	3	845	3	WDR37	10	1149626	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		1149626	134385121	52	52											
NEBL	10529	broad.mit.edu	37	chr10	21098813	21098813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggagccaggatctgtgcGccaaactttgaggtcttttg	13	8	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:21098813G>A	ENST00000377122.4	-	25	2929	c.2533C>T	c.(2533-2535)Cgc>Tgc	p.R845C	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	845	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle	p.R845C(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGATCTGTGCGCCAAACTTTG	0.383													False	0	False	10:21098813	0	A	21098813	G	A	21098813	3	1	1	1	0	0	0	0	1	0	0	0	10371	1087	38	1	527	1	NEBL	10	21098813	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	19949187	21098813	114435934	53	53											
NT5C2	22978	broad.mit.edu	37	chr10	104934648	104934648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgacgatactttttcaggGcatgcttatccatgttagca	8	10	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr10:104934648G>A	ENST00000343289.5	-	2	155	c.68C>T	c.(67-69)gCc>gTc	p.A23V	NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000470299.1_Missense_Mutation_p.A23V|NT5C2_ENST00000404739.3_Missense_Mutation_p.A23V	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	23					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	CTTTTTCAGGGCATGCTTATC	0.378													False	0	True	10:104934648	0	A	104934648	G	A	104934648	3	1	1	1	0	0	0	0	1	0	0	0	10755	1203	42	2	1685	2	NT5C2	10	104934648	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	83835835	104934648	30600099	54	54											
OR51I2	390064	broad.mit.edu	37	chr11	5475025	5475025	+	Missense_Mutation	SNP	C	C	A													cctgtctaattcagatgtttCttattcacttcttctccatg							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:5475025C>A	ENST00000341449.2	+	1	388	c.307C>A	c.(307-309)Ctt>Att	p.L103I	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGATGTTTCTTATTCACTT	0.483													False	0	True	11:5475025	0	A	5475025	C	A	5475025	3	1	1	1	0	0	0	0	1	0	0	0	11169	913	32	3	309	3	OR51I2	11	5475025	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		5475025	129531491	55	55	1	2									
OR51I2	390064	broad.mit.edu	37	chr11	5475027	5475027	+	Silent	SNP	T	T	A													tgtctaattcagatgtttctTattcacttcttctccatgat							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:5475027T>A	ENST00000341449.2	+	1	390	c.309T>A	c.(307-309)ctT>ctA	p.L103L	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTTTCTTATTCACTTCT	0.483													False	0	False	11:5475027	0	A	5475027	T	A	5475027	2	1	1	1	0	0	0	0	0	0	0	1	11169	1741	61	5		5	OR51I2	11	5475027	Silent	SNP	T	TCGA-2J-AAB1-01A-11D-A40W-08	2	5475027	129531489	56	56	1	2									
PARVA	55742	broad.mit.edu	37	chr11	12534985	12534985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaacccatccctgcagcttGcgagcttcctgccagaactg	8	15	0	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:12534985G>T	ENST00000538608.1	+	9	853	c.717G>T	c.(715-717)ttG>ttT	p.L239F	PARVA_ENST00000539723.1_Intron|PARVA_ENST00000550549.1_Intron|PARVA_ENST00000334956.8_Intron			Q9NVD7	PARVA_HUMAN	parvin, alpha	187					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		CCTGCAGCTTGCGAGCTTCCT	0.542													False	0	False	11:12534985	0	T	12534985	G	T	12534985	3	4	1	1	0	0	0	0	1	0	0	0	11536	1334	46	3		3	PARVA	11	12534985	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	7059958	12534985	122471531	57	57											
OR8J3	81168	broad.mit.edu	37	chr11	55905125	55905125	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccaggaagaggggaatctGgagctctggacagctagaga	16	7	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:55905125G>T	ENST00000301529.1	-	1	69	c.70C>A	c.(70-72)Cag>Aag	p.Q24K		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGGGGAATCTGGAGCTCTGGA	0.488													False	0	False	11:55905125	0	T	55905125	G	T	55905125	3	4	1	1	0	0	0	0	1	0	0	0	11310	1357	47	3	879	3	OR8J3	11	55905125	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	43370140	55905125	79101391	58	58											
DNAJC4	3338	broad.mit.edu	37	chr11	63999972	63999972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgagcgaggcataccGtgtgctcagccgtgagcaga	16	10	1	3			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:63999972G>A	ENST00000321685.3	+	4	716	c.251G>A	c.(250-252)cGt>cAt	p.R84H	RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000321460.5_Missense_Mutation_p.R84H|DNAJC4_ENST00000355040.4_Intron|RP11-783K16.14_ENST00000534988.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	84	J.				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						GAGGCATACCGTGTGCTCAGC	0.632													False	0	False	11:63999972	0	A	63999972	G	A	63999972	3	1	1	1	0	0	0	0	1	0	0	0	4679	1145	40	1	261	1	DNAJC4	11	63999972	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	8094847	63999972	71006544	59	59											
EXPH5	23086	broad.mit.edu	37	chr11	108382677	108382678	+	Frame_Shift_Ins	INS	-	-	G													ctctttctcagtgtattcttINSggaagttttccttttggtgt							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:108382677_108382678insG	ENST00000265843.4	-	6	3666_3667	c.3556_3557insC	c.(3556-3558)caafs	p.Q1186fs	EXPH5_ENST00000428840.1_Frame_Shift_Ins_p.Q1110fs|EXPH5_ENST00000443411.1_Frame_Shift_Ins_p.Q998fs|EXPH5_ENST00000525344.1_Frame_Shift_Ins_p.Q1179fs	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1186					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGTGTATTCTTGGAAGTTTTCC	0.416													False	2	False	11:108382677	0	G	108382678	-	G	108382677	7	5	1	1	0	1	1	0	0	0	0	0	5355	1812	63	0	2416	0	EXPH5	11	108382677	Frame_Shift_Ins	INS	-	TCGA-2J-AAB1-01A-11D-A40W-08	44382705	108382677	26623839	60	60											
FDX1	2230	broad.mit.edu	37	chr11	110327723	110327723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagaagttagatgcaatcaCtgatgaggagaatgacatgc	12	5	1	6			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:110327723C>A	ENST00000260270.2	+	3	630	c.392C>A	c.(391-393)aCt>aAt	p.T131N		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	131	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GATGCAATCACTGATGAGGAG	0.403													False	0	False	11:110327723	0	A	110327723	C	A	110327723	3	1	1	1	0	0	0	0	1	0	0	0	5844	565	20	3	402	3	FDX1	11	110327723	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	1945046	110327723	24678793	61	61											
UBASH3B	84959	broad.mit.edu	37	chr11	122659916	122659916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaccagcaccagcgagGgttggatctatggcacgtcc	13	12	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:122659916G>A	ENST00000284273.5	+	6	1255	c.880G>A	c.(880-882)Ggt>Agt	p.G294S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	294	SH3.					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CACCAGCGAGGGTTGGATCTA	0.532													False	0	True	11:122659916	0	A	122659916	G	A	122659916	3	1	1	1	0	0	0	0	1	0	0	0	16924	1232	43	2	902	2	UBASH3B	11	122659916	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	12332193	122659916	12346600	62	62											
UBASH3B	84959	broad.mit.edu	37	chr11	122667627	122667627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttttcaggccgctacAtacgcaccaacctgaacatg	7	12	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr11:122667627A>G	ENST00000284273.5	+	9	1618	c.1243A>G	c.(1243-1245)Ata>Gta	p.I415V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	415	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGGCCGCTACATACGCACCAA	0.473													False	0	False	11:122667627	0	G	122667627	A	G	122667627	3	3	1	1	0	0	0	0	1	0	0	0	16924	217	8	4	1277	4	UBASH3B	11	122667627	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	7711	122667627	12338889	63	63											
PRB4	5545	broad.mit.edu	37	chr12	11461676	11461676	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcctccttgtgggggtcGtccttctggctttcctggag	14	11	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:11461676G>A	ENST00000279575.1	-	3	274	c.241C>T	c.(241-243)Cga>Tga	p.R81*	PRB4_ENST00000535904.1_Nonsense_Mutation_p.R81*|PRB4_ENST00000445719.2_Nonsense_Mutation_p.R81*	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	81	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGTGGGGGTCGTCCTTCTGGC	0.617										HNSCC(22;0.051)			False	0	False	12:11461676	0	A	11461676	G	A	11461676	4	1	1	1	0	0	0	0	0	1	0	0	12521	1153	40	1	506	1	PRB4	12	11461676	Nonsense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		11461676	122390219	64	64											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T													aggcactcttgcctacgccaCcagctccaactaccacaagt					rs121913529		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	1	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	13936608	25398284	108453611	65	65	2	2									
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G													ggcactcttgcctacgccacCagctccaactaccacaagtt					rs121913530		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	1	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	1	25398285	108453610	66	66	2	2									
ARNTL2	56938	broad.mit.edu	37	chr12	27533278	27533278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgcaaccccatggcgcGtaaactggacaaacttacag	9	12	1	0	rs149871988		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:27533278G>A	ENST00000544915.1	+	4	542	c.323G>A	c.(322-324)cGt>cAt	p.R108H	ARNTL2_ENST00000266503.5_Missense_Mutation_p.R142H|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R94H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R128H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R57H|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R105H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R105H	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	142					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CCCATGGCGCGTAAACTGGAC	0.418													False	0	False	12:27533278	0	A	27533278	G	A	27533278	3	1	1	1	0	0	0	0	1	0	0	0	972	1145	40	1	443	1	ARNTL2	12	27533278	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	2134993	27533278	106318617	67	67											
MBD6	0	broad.mit.edu	37	chr12	57919654	57919666	+	Frame_Shift_Del	DEL	GGGGCCCCTGGGA	GGGGCCCCTGGGA	-													atgcacctgcccctggtcctGgggcccctgggaggggcccc							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	GGGGCCCCTGGGA	GGGGCCCCTGGGA	-	-	GGGGCCCCTGGGA	GGGGCCCCTGGGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:57919654_57919666delGGGGCCCCTGGGA	ENST00000355673.3	+	6	1259_1271	c.903_915delGGGGCCCCTGGGA	c.(901-915)ctggggcccctgggafs	p.LGPLG301fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.LGPLG301fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	301	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCTGGTCCTGGGGCCCCTGGGAGGGGCCCCCA	0.695													False	1	True	12:57919654	0	-	57919666	GGGGCCCCTGGGA	-	57919654	7	5	1	1	0	1	0	1	0	0	0	0	9415	1335	47	0	917	0	MBD6	12	57919654	Frame_Shift_Del	DEL	GGGGCCCCTGGGA	TCGA-2J-AAB1-01A-11D-A40W-08	30386376	57919654	75932241	68	68											
SLC6A15	55117	broad.mit.edu	37	chr12	85255590	85255590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaatgaggcttgtatcatCgccctctaagttcacaggct	10	10	3	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:85255590C>T	ENST00000266682.5	-	12	2555	c.2014G>A	c.(2014-2016)Gat>Aat	p.D672N	SLC6A15_ENST00000552192.1_Missense_Mutation_p.D565N|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	672					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTTGTATCATCGCCCTCTAAG	0.423													False	0	False	12:85255590	0	T	85255590	C	T	85255590	3	4	1	1	0	0	0	0	1	0	0	0	14758	884	31	1	182	1	SLC6A15	12	85255590	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	27335936	85255590	48596305	69	69											
USP44	84101	broad.mit.edu	37	chr12	95922666	95922666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttcagtaaccagacatGgctgggaagcaatatctttt	8	8	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:95922666G>A	ENST00000258499.3	-	3	1829	c.1541C>T	c.(1540-1542)cCa>cTa	p.P514L	USP44_ENST00000393091.2_Missense_Mutation_p.P514L|USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Missense_Mutation_p.P514L	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	514					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AACCAGACATGGCTGGGAAGC	0.393													False	0	False	12:95922666	0	A	95922666	G	A	95922666	3	1	1	1	0	0	0	0	1	0	0	0	17159	1348	47	2	613	2	USP44	12	95922666	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	10667076	95922666	37929229	70	70											
TMEM116	89894	broad.mit.edu	37	chr12	112374530	112374530	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagtacaaagctgcccAggaaaatggcgataccataa	11	9	0	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:112374530A>T	ENST00000354825.3	-	10	933	c.278T>A	c.(277-279)cTg>cAg	p.L93Q	TMEM116_ENST00000549537.2_Intron|TMEM116_ENST00000552374.2_Missense_Mutation_p.L185Q|TMEM116_ENST00000550831.3_Missense_Mutation_p.L93Q|TMEM116_ENST00000437003.2_Missense_Mutation_p.L93Q|TMEM116_ENST00000355445.3_Missense_Mutation_p.L150Q			Q8NCL8	TM116_HUMAN	transmembrane protein 116	93						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						AAAGCTGCCCAGGAAAATGGC	0.478													False	0	True	12:112374530	0	T	112374530	A	T	112374530	3	4	1	1	0	0	0	0	1	0	0	0	16112	188	7	5	475	5	TMEM116	12	112374530	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	16451864	112374530	21477365	71	71											
TPCN1	53373	broad.mit.edu	37	chr12	113711435	113711435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctgcgtcttcttcatcGtgtacctctccatcgagctg	9	14	4	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:113711435G>A	ENST00000550785.1	+	11	1289	c.1120G>A	c.(1120-1122)Gtg>Atg	p.V374M	TPCN1_ENST00000335509.6_Missense_Mutation_p.V302M|TPCN1_ENST00000392569.4_Missense_Mutation_p.V234M|TPCN1_ENST00000541517.1_Missense_Mutation_p.V374M	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	302						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTTCTTCATCGTGTACCTCTC	0.557													False	0	False	12:113711435	0	A	113711435	G	A	113711435	3	1	1	1	0	0	0	0	1	0	0	0	16478	1145	40	1	1158	1	TPCN1	12	113711435	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	1336905	113711435	20140460	72	72											
RSRC2	65117	broad.mit.edu	37	chr12	123005948	123005948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctctttgcttctgctcCggctcctgtgttttcttcct	6	14	3	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:123005948C>T	ENST00000331738.7	-	3	336	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	RSRC2_ENST00000354654.2_Missense_Mutation_p.G9R	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	64	Ser-rich.									breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GCTTCTGCTCCGGCTCCTGTG	0.308													False	0	False	12:123005948	0	T	123005948	C	T	123005948	3	4	1	1	0	0	0	0	1	0	0	0	13794	652	23	1	1179	1	RSRC2	12	123005948	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	9294513	123005948	10845947	73	73											
NOC4L	79050	broad.mit.edu	37	chr12	132635870	132635870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctttcacgtcaagtacCgcgcccgcttcttccacctg	7	17	4	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr12:132635870C>T	ENST00000330579.1	+	11	1071	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	344					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CGTCAAGTACCGCGCCCGCTT	0.652													False	0	False	12:132635870	0	T	132635870	C	T	132635870	3	4	1	1	0	0	0	0	1	0	0	0	10583	652	23	1	1072	1	NOC4L	12	132635870	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	9629922	132635870	1216025	74	74											
LRCH1	23143	broad.mit.edu	37	chr13	47266683	47266683	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttttagccttctgacgaaGacactgttagcctcaatgtg	8	10	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:47266683G>T	ENST00000311191.6	+	8	1256	c.1027G>T	c.(1027-1029)Gac>Tac	p.D343Y	LRCH1_ENST00000389798.3_Missense_Mutation_p.D343Y|LRCH1_ENST00000389797.3_Missense_Mutation_p.D343Y	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	343										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTCTGACGAAGACACTGTTAG	0.418													False	0	False	13:47266683	0	T	47266683	G	T	47266683	3	4	1	1	0	0	0	0	1	0	0	0	8994	942	33	3	1057	3	LRCH1	13	47266683	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		47266683	67903195	75	75											
PCDH9	5101	broad.mit.edu	37	chr13	66878827	66878827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactctcagtagcacctcctGcttgcttataagacttcaga	7	12	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:66878827G>A	ENST00000544246.1	-	5	4365	c.3674C>T	c.(3673-3675)gCa>gTa	p.A1225V	PCDH9_ENST00000456367.1_Missense_Mutation_p.A1191V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A1225V|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.A1191V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1225					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A1225E(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGCACCTCCTGCTTGCTTATA	0.438													False	0	True	13:66878827	0	A	66878827	G	A	66878827	3	1	1	1	0	0	0	0	1	0	0	0	11586	1319	46	2	43	2	PCDH9	13	66878827	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	19612144	66878827	48291051	76	76											
KLHL1	57626	broad.mit.edu	37	chr13	70535555	70535555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatggccgcaaaatagtcGgagactgaactcagaacaag	10	9	1	3			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr13:70535555G>A	ENST00000377844.4	-	3	1461	c.702C>T	c.(700-702)tcC>tcT	p.S234S	KLHL1_ENST00000545028.1_Silent_p.S41S	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	234	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S234S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAAAATAGTCGGAGACTGAAC	0.453													False	0	False	13:70535555	0	A	70535555	G	A	70535555	2	1	1	1	0	0	0	0	0	0	0	1	8415	1103	39	1		1	KLHL1	13	70535555	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	3656728	70535555	44634323	77	77											
OR4M1	441670	broad.mit.edu	37	chr14	20248817	20248817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttggggcttcggagatGttcttgctcacagtgatggc	14	7	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:20248817G>A	ENST00000315957.4	+	1	417	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCGGAGATGTTCTTGCTCA	0.478													False	0	False	14:20248817	0	A	20248817	G	A	20248817	3	1	1	1	0	0	0	0	1	0	0	0	11143	1377	48	2	338	2	OR4M1	14	20248817	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		20248817	87100723	78	78											
DIO3	1735	broad.mit.edu	37	chr14	102028329	102028329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgctggttctcaatttcGgcagctgcacctgaccaccg	10	16	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr14:102028329G>A	ENST00000359323.3	+	1	642	c.418G>A	c.(418-420)Ggc>Agc	p.G140S	DIO3_ENST00000510508.4_Missense_Mutation_p.G166S	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	140					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TCTCAATTTCGGCAGCTGCAC	0.627													False	0	False	14:102028329	0	A	102028329	G	A	102028329	3	1	1	1	0	0	0	0	1	0	0	0	4556	1116	39	1	498	1	DIO3	14	102028329	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	81779512	102028329	5321211	79	79											
FBN1	2200	broad.mit.edu	37	chr15	48704920	48704920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtttcctcggcccatgCccattccagaaacacagtgc	9	15	0	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:48704920C>T	ENST00000316623.5	-	65	8527	c.8072G>A	c.(8071-8073)gGc>gAc	p.G2691D	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2691					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCGGCCCATGCCCATTCCAGA	0.502													False	0	True	15:48704920	0	T	48704920	C	T	48704920	3	4	1	1	0	0	0	0	1	0	0	0	5742	739	26	2	551	2	FBN1	15	48704920	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		48704920	53826472	80	80											
ANPEP	290	broad.mit.edu	37	chr15	90334315	90334315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtccgggttcagggtgtaGctcaggtacctaagagggcc	15	9	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr15:90334315G>A	ENST00000300060.6	-	19	2851	c.2538C>T	c.(2536-2538)agC>agT	p.S846S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	846	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCAGGGTGTAGCTCAGGTACC	0.532													False	0	False	15:90334315	0	A	90334315	G	A	90334315	2	1	1	1	0	0	0	0	0	0	0	1	710	962	34	2		2	ANPEP	15	90334315	Silent	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	41629395	90334315	12197077	81	81											
C16orf11	146325	broad.mit.edu	37	chr16	615296	615296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcagagcccccagggcGccgaggtctgacctgcagcg	15	16	1	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:615296G>A	ENST00000409413.3	+	3	1984	c.1705G>A	c.(1705-1707)Gcc>Acc	p.A569T		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	569										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCCCAGGGCGCCGAGGTCTG	0.677													False	0	False	16:615296	0	A	615296	G	A	615296	3	1	1	1	0	0	0	0	1	0	0	0	1820	1087	38	1	1711	1	C16orf11	16	615296	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		615296	89739457	82	82											
CACNA1H	8912	broad.mit.edu	37	chr16	1256207	1256207	+	Missense_Mutation	SNP	C	C	A													gctttctgccagccctgcggCgccagctcgtggtgctggtg							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:1256207C>A	ENST00000348261.5	+	12	2955	c.2707C>A	c.(2707-2709)Cgc>Agc	p.R903S	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R903S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R903S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	903					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AGCCCTGCGGCGCCAGCTCGT	0.632													False	0	False	16:1256207	0	A	1256207	C	A	1256207	3	1	1	1	0	0	0	0	1	0	0	0	2565	768	27	3	2749	3	CACNA1H	16	1256207	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	640911	1256207	89098546	83	83	3	2									
CACNA1H	8912	broad.mit.edu	37	chr16	1256208	1256208	+	Missense_Mutation	SNP	G	G	A													ctttctgccagccctgcggcGccagctcgtggtgctggtga							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:1256208G>A	ENST00000348261.5	+	12	2956	c.2708G>A	c.(2707-2709)cGc>cAc	p.R903H	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R903H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R903H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	903					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCCCTGCGGCGCCAGCTCGTG	0.632													False	0	False	16:1256208	0	A	1256208	G	A	1256208	3	1	1	1	0	0	0	0	1	0	0	0	2565	1087	38	1	2750	1	CACNA1H	16	1256208	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	1	1256208	89098545	84	84	3	2									
CYLD	1540	broad.mit.edu	37	chr16	50827516	50827516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagtgtagagaatgctacGacgatccggacatctcagct	11	9	1	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:50827516G>A	ENST00000540145.1	+	17	2825	c.2410G>A	c.(2410-2412)Gac>Aac	p.D804N	CYLD_ENST00000569418.1_Missense_Mutation_p.D801N|CYLD_ENST00000311559.9_Missense_Mutation_p.D804N|CYLD_ENST00000564326.1_Missense_Mutation_p.D801N|CYLD_ENST00000568704.2_Missense_Mutation_p.D619N|CYLD_ENST00000427738.3_Missense_Mutation_p.D804N|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000398568.2_Missense_Mutation_p.D801N|CYLD_ENST00000566206.1_Missense_Mutation_p.D801N|RP11-327F22.4_ENST00000564510.1_RNA			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	804					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGAATGCTACGACGATCCGGA	0.438			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				False	0	False	16:50827516	0	A	50827516	G	A	50827516	3	1	1	1	0	0	0	0	1	0	0	0	4168	1058	37	1	2468	1	CYLD	16	50827516	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	49571308	50827516	39527237	85	85											
CES3	23491	broad.mit.edu	37	chr16	67006841	67006841	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaacccagtgccacgggcCggacagaagttcagggaggc	14	12	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr16:67006841C>T	ENST00000303334.4	+	13	1676	c.1605C>T	c.(1603-1605)gcC>gcT	p.A535A	CES3_ENST00000543856.1_Silent_p.A174A|CES3_ENST00000394037.1_Silent_p.A532A	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	535						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TGCCACGGGCCGGACAGAAGT	0.582													False	0	False	16:67006841	0	T	67006841	C	T	67006841	2	4	1	1	0	0	0	0	0	0	0	1	3294	639	23	1		1	CES3	16	67006841	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	16179325	67006841	23347912	86	86											
SMYD4	114826	broad.mit.edu	37	chr17	1703597	1703597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcttcgttatgattttgCgaacatcctcaaatcccacc	5	12	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:1703597C>T	ENST00000305513.7	-	5	1258	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	364							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TATGATTTTGCGAACATCCTC	0.453													False	0	False	17:1703597	0	T	1703597	C	T	1703597	3	4	1	1	0	0	0	0	1	0	0	0	14904	768	27	1	1351	1	SMYD4	17	1703597	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		1703597	79491613	87	87											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840902	1840902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcggggctgaagtggcCgggctggaggaggccgatgc	21	9	0	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:1840902C>T	ENST00000331238.6	-	2	693	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1						axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CTGAAGTGGCCGGGCTGGAGG	0.637													False	0	True	17:1840902	0	T	1840902	C	T	1840902	3	4	1	1	0	0	0	0	1	0	0	0	13810	652	23	1	1115	1	RTN4RL1	17	1840902	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	137305	1840902	79354308	88	88											
ALOX15	246	broad.mit.edu	37	chr17	4544868	4544868	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcctccccgtgctggccgaCcagccacagctgcacctggt	11	19	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:4544868C>G	ENST00000570836.1	-	2	175	c.79G>C	c.(79-81)Gtc>Ctc	p.V27L	ALOX15_ENST00000574640.1_Missense_Mutation_p.V27L|ALOX15_ENST00000545513.1_Missense_Mutation_p.V49L|ALOX15_ENST00000293761.3_Missense_Mutation_p.V27L			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	27	PLAT.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	TGCTGGCCGACCAGCCACAGC	0.687													False	0	False	17:4544868	0	G	4544868	C	G	4544868	3	3	1	1	0	0	0	0	1	0	0	0	538	507	18	5	1965	5	ALOX15	17	4544868	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	2703966	4544868	76650342	89	89											
POLR2A	5430	broad.mit.edu	37	chr17	7401414	7401414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacttcaagaactagtgcGcagggggaacagccagtacc	12	10	1	2	rs141769858	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:7401414G>A	ENST00000322644.6	+	8	1619	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	POLR2A_ENST00000572844.1_Missense_Mutation_p.R407H	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	407					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAACTAGTGCGCAGGGGGAAC	0.517													False	0	False	17:7401414	0	A	7401414	G	A	7401414	3	1	1	1	0	0	0	0	1	0	0	0	12283	1087	38	1	1250	1	POLR2A	17	7401414	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	2856546	7401414	73793796	90	90											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			False	0	False	17:7578406	0	T	7578406	C	T	7578406	3	4	1	1	0	0	0	0	1	0	0	0	16464	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	176992	7578406	73616804	91	91											
MYH13	8735	broad.mit.edu	37	chr17	10248866	10248866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagctgctggttgatgCgggtgaccatccacaggaac	13	11	0	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:10248866C>T	ENST00000418404.3	-	13	1494	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	MYH13_ENST00000252172.4_Missense_Mutation_p.R444H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	444	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGGTTGATGCGGGTGACCAT	0.522													False	0	True	17:10248866	0	T	10248866	C	T	10248866	3	4	1	1	0	0	0	0	1	0	0	0	10099	768	27	1	4597	1	MYH13	17	10248866	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	2670460	10248866	70946344	92	92											
MAP2K3	5606	broad.mit.edu	37	chr17	21208417	21208417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacaatgtcaagtccgacGtctggagcctgggcatcacc	11	13	3	0	rs150613942	byFrequency	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:21208417G>A	ENST00000342679.4	+	9	1000	c.751G>A	c.(751-753)Gtc>Atc	p.V251I	MAP2K3_ENST00000361818.5_Missense_Mutation_p.V222I|MAP2K3_ENST00000316920.6_Missense_Mutation_p.V222I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	251	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V255I(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAAGTCCGACGTCTGGAGCCT	0.637													False	0	False	17:21208417	0	A	21208417	G	A	21208417	3	1	1	1	0	0	0	0	1	0	0	0	9305	1145	40	1	785	1	MAP2K3	17	21208417	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	10959551	21208417	59986793	93	93											
TOP2A	7153	broad.mit.edu	37	chr17	38564781	38564781	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcgagtttgggaattcccttGattctattatgttttacagc	8	7	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:38564781G>C	ENST00000423485.1	-	11	1463	c.1305C>G	c.(1303-1305)atC>atG	p.I435M		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	435					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GAATTCCCTTGATTCTATTAT	0.338													False	0	False	17:38564781	0	C	38564781	G	C	38564781	3	2	1	1	0	0	0	0	1	0	0	0	16448	1280	45	5	3390	5	TOP2A	17	38564781	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	17356364	38564781	42630429	94	94											
KRT38	8687	broad.mit.edu	37	chr17	39596894	39596894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtgttttcaccataggCcccacagattccaatgttgc	9	12	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:39596894C>T	ENST00000246646.3	-	1	279	c.280G>A	c.(280-282)Gcc>Acc	p.A94T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	94	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCACCATAGGCCCCACAGATT	0.602													False	0	True	17:39596894	0	T	39596894	C	T	39596894	3	4	1	1	0	0	0	0	1	0	0	0	8525	739	26	2	1118	2	KRT38	17	39596894	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	1032113	39596894	41598316	95	95											
DHX58	79132	broad.mit.edu	37	chr17	40263826	40263826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagccgcccgggtcttccCggcacccgtgggcagccaga	14	17	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:40263826C>T	ENST00000251642.3	-	3	307	c.85G>A	c.(85-87)Ggg>Agg	p.G29R		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	29	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGGGTCTTCCCGGCACCCGTG	0.592													False	0	True	17:40263826	0	T	40263826	C	T	40263826	3	4	1	1	0	0	0	0	1	0	0	0	4544	652	23	1	1999	1	DHX58	17	40263826	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	666932	40263826	40931384	96	96											
ABCA9	10350	broad.mit.edu	37	chr17	67016614	67016614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcctccagagcgccaCgccactgattgttttccttg	9	15	0	2	rs61740908		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:67016614C>T	ENST00000340001.4	-	19	2726	c.2515G>A	c.(2515-2517)Gtg>Atg	p.V839M	ABCA9_ENST00000370732.2_Missense_Mutation_p.V839M|ABCA9_ENST00000453985.2_Missense_Mutation_p.V839M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	839					transport	integral to membrane	ATP binding|ATPase activity	p.V839M(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CAGAGCGCCACGCCACTGATT	0.443													False	0	True	17:67016614	0	T	67016614	C	T	67016614	3	4	1	1	0	0	0	0	1	0	0	0	39	536	19	1	2443	1	ABCA9	17	67016614	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	26752788	67016614	14178596	97	97											
ENPP7	339221	broad.mit.edu	37	chr17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgccatggcccgagacGgggtgaaggcacgctacatg	16	11	0	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	61					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647													False	0	True	17:77705082	0	A	77705082	G	A	77705082	3	1	1	1	0	0	0	0	1	0	0	0	5167	1116	39	1	183	1	ENPP7	17	77705082	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	10688468	77705082	3490128	98	98											
LAMA1	284217	broad.mit.edu	37	chr18	7023334	7023334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcacagggaacacaagattCgccaggcactgttgggtttc	12	10	1	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr18:7023334C>T	ENST00000389658.3	-	19	2623	c.2530G>A	c.(2530-2532)Gaa>Aaa	p.E844K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	844	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACAAGATTCGCCAGGCACT	0.532													False	0	False	18:7023334	0	T	7023334	C	T	7023334	3	4	1	1	0	0	0	0	1	0	0	0	8656	893	31	1	6877	1	LAMA1	18	7023334	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		7023334	71053914	99	99											
C19orf57	79173	broad.mit.edu	37	chr19	14006194	14006194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccacctacctggagacgGcctttcctggttcctccccg	10	17	0	1	rs145142690		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:14006194G>A	ENST00000454313.1	-	3	255	c.197C>T	c.(196-198)gCc>gTc	p.A66V	C19orf57_ENST00000346736.2_Missense_Mutation_p.A66V|C19orf57_ENST00000591586.1_Missense_Mutation_p.A66V|C19orf57_ENST00000586783.1_Missense_Mutation_p.A66V			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	66					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTGGAGACGGCCTTTCCTGG	0.562													False	0	False	19:14006194	0	A	14006194	G	A	14006194	3	1	1	1	0	0	0	0	1	0	0	0	1954	1203	42	2	1740	2	C19orf57	19	14006194	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08		14006194	45122789	100	100											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	1	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-2J-AAB1-01A-11D-A40W-08	77473	14083667	45045316	101	101											
RHPN2	85415	broad.mit.edu	37	chr19	33517490	33517490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtctgagttgacgaaGctcagctccagccgcacttg	12	12	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:33517490G>T	ENST00000254260.3	-	3	269	c.234C>A	c.(232-234)agC>agA	p.S78R	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	78					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGTTGACGAAGCTCAGCTCCA	0.562													False	0	True	19:33517490	0	T	33517490	G	T	33517490	3	4	1	1	0	0	0	0	1	0	0	0	13430	962	34	3	1878	3	RHPN2	19	33517490	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	19433823	33517490	25611493	102	102											
SARS2	54938	broad.mit.edu	37	chr19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgctgtagccctcgcgcGcatactcgtacaggaggttc	13	13	0	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:39421234	0	A	39421234	G	A	39421234	3	1	1	1	0	0	0	0	1	0	0	0	13925	1087	38	1	1558	1	SARS2	19	39421234	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	5903744	39421234	19707749	103	103											
ZNF404	342908	broad.mit.edu	37	chr19	44388109	44388109	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagagacatcaactcaccCgggccatggtttcagaaatg	9	10	3	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:44388109C>T	ENST00000587539.1	-	1	7	c.8G>A	c.(7-9)cGg>cAg	p.R3Q	ZNF404_ENST00000588094.1_5'UTR	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCAACTCACCCGGGCCATGGT	0.388													False	0	True	19:44388109	0	T	44388109	C	T	44388109	5	4	1	1	0	0	0	0	0	0	1	0	17969	667	23	1		1	ZNF404	19	44388109	Splice_Site	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	4966875	44388109	14740874	104	104											
ZNF227	7770	broad.mit.edu	37	chr19	44739673	44739673	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaaatgctttagtcaaAgttcaaattttcagtgccat	8	6	3	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:44739673A>T	ENST00000313040.7	+	6	1295	c.1090A>T	c.(1090-1092)Agt>Tgt	p.S364C	ZNF227_ENST00000589005.1_Missense_Mutation_p.S313C|ZNF227_ENST00000391961.2_Missense_Mutation_p.S313C	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CTTTAGTCAAAGTTCAAATTT	0.423													False	0	True	19:44739673	0	T	44739673	A	T	44739673	3	4	1	1	0	0	0	0	1	0	0	0	17864	72	3	5	1104	5	ZNF227	19	44739673	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	351564	44739673	14389310	105	105											
ZNF114	163071	broad.mit.edu	37	chr19	48789674	48789674	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaataactcaattcacgccAtgcagatgcagttgtatacc	7	10	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:48789674A>C	ENST00000595607.1	+	6	1287	c.793A>C	c.(793-795)Atg>Ctg	p.M265L	ZNF114_ENST00000315849.1_Missense_Mutation_p.M265L|ZNF114_ENST00000600687.1_Missense_Mutation_p.M265L|ZNF114_ENST00000597695.1_Missense_Mutation_p.M231L			Q8NC26	ZN114_HUMAN	zinc finger protein 114	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		AATTCACGCCATGCAGATGCA	0.463													False	0	False	19:48789674	0	C	48789674	A	C	48789674	3	2	1	1	0	0	0	0	1	0	0	0	17799	217	8	4	803	4	ZNF114	19	48789674	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	4050001	48789674	10339309	106	106											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52149092	52149092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagctccttggcgtttcaCctgacaggtgaggttggtgc	14	10	1	3	rs111981406	by1000genomes	TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:52149092C>T	ENST00000360844.6	-	3	684	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	215	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.V215M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGCGTTTCACCTGACAGGTG	0.647													False	0	False	19:52149092	0	T	52149092	C	T	52149092	3	4	1	1	0	0	0	0	1	0	0	0	14390	507	18	2	567	2	SIGLEC14	19	52149092	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	3359418	52149092	6979891	107	107											
RPL28	6158	broad.mit.edu	37	chr19	55899358	55899358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaagaatgctcgcgccaCgctcagcagcatcagacaca	8	15	2	2	rs150642428		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr19:55899358C>T	ENST00000344063.2	+	4	895	c.266C>T	c.(265-267)aCg>aTg	p.T89M	RPL28_ENST00000458349.2_Missense_Mutation_p.T89M|RPL28_ENST00000560055.1_Missense_Mutation_p.T89M|RPL28_ENST00000558815.1_Missense_Mutation_p.T89M|RPL28_ENST00000560583.1_Missense_Mutation_p.T89M|RPL28_ENST00000559463.1_Missense_Mutation_p.T89M|RPL28_ENST00000558131.1_Missense_Mutation_p.R83C			P46779	RL28_HUMAN	ribosomal protein L28	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCTCGCGCCACGCTCAGCAGC	0.622													False	0	False	19:55899358	0	T	55899358	C	T	55899358	3	4	1	1	0	0	0	0	1	0	0	0	13656	536	19	1	344	1	RPL28	19	55899358	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	3750266	55899358	3229625	108	108											
DHX35	60625	broad.mit.edu	37	chr20	37653909	37653909	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatggtgtcaggaacatttcCtgaattacaagggtcttgtc	10	7	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:37653909C>G	ENST00000252011.3	+	18	1741	c.1708C>G	c.(1708-1710)Ctg>Gtg	p.L570V	DHX35_ENST00000373323.4_Missense_Mutation_p.L539V|DHX35_ENST00000373325.2_Missense_Mutation_p.L570V	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	570						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GGAACATTTCCTGAATTACAA	0.418													False	0	False	20:37653909	0	G	37653909	C	G	37653909	3	3	1	1	0	0	0	0	1	0	0	0	4538	680	24	5	1778	5	DHX35	20	37653909	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		37653909	25371611	109	109											
CHD6	0	broad.mit.edu	37	chr20	40085993	40085993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgtcaaacatctcgcgctCgtaggaatttcgagtgatga	10	9	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:40085993C>T	ENST00000373233.3	-	18	2917	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	914	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ATCTCGCGCTCGTAGGAATTT	0.542													False	0	False	20:40085993	0	T	40085993	C	T	40085993	3	4	1	1	0	0	0	0	1	0	0	0	3352	893	31	1	5487	1	CHD6	20	40085993	Missense_Mutation	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	2432084	40085993	22939527	110	110											
GNAS	2778	broad.mit.edu	37	chr20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggacctgcttcgctgccGtgtcctgacttctggaatct	10	13	3	1	rs121913495		TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:57484421G>A	ENST00000371100.4	+	8	3083	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			False	0	False	20:57484421	0	A	57484421	G	A	57484421	3	1	1	1	0	0	0	0	1	0	0	0	6555	1145	40	1	3449	1	GNAS	20	57484421	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	17398428	57484421	5541099	111	111											
DIDO1	11083	broad.mit.edu	37	chr20	61525110	61525110	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgggcaccatcacagaagtCaagacaggcttcggcacatc	10	12	2	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr20:61525110C>T	ENST00000266070.4	-	12	3334	c.3009G>A	c.(3007-3009)ttG>ttA	p.L1003L	DIDO1_ENST00000395335.2_Silent_p.L1003L|DIDO1_ENST00000395340.1_Silent_p.L1003L|DIDO1_ENST00000395343.1_Silent_p.L1003L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1003					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCACAGAAGTCAAGACAGGCT	0.567													False	0	False	20:61525110	0	T	61525110	C	T	61525110	2	4	1	1	0	0	0	0	0	0	0	1	4552	825	29	2		2	DIDO1	20	61525110	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	4040689	61525110	1500410	112	112											
CHAF1B	8208	broad.mit.edu	37	chr21	37783861	37783861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccttcccttttggttaCgtgtctaatatacattacca	5	11	1	0			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr21:37783861C>T	ENST00000314103.5	+	11	1171	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CTTTTGGTTACGTGTCTAATA	0.522													False	0	False	21:37783861	0	T	37783861	C	T	37783861	2	4	1	1	0	0	0	0	0	0	0	1	3335	547	19	1		1	CHAF1B	21	37783861	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08		37783861	10346034	113	113											
BRWD1	54014	broad.mit.edu	37	chr21	40578077	40578077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacctttacaattttgccGttgcttgaacctctggcttc	7	12	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr21:40578077G>A	ENST00000342449.3	-	37	4399	c.4321C>T	c.(4321-4323)Cgg>Tgg	p.R1441W	BRWD1_ENST00000333229.2_Missense_Mutation_p.R1441W|BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441W	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAATTTTGCCGTTGCTTGAAC	0.328													False	0	False	21:40578077	0	A	40578077	G	A	40578077	3	1	1	1	0	0	0	0	1	0	0	0	1532	1144	40	1	2904	1	BRWD1	21	40578077	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	2794216	40578077	7551818	114	114											
DSCAM	1826	broad.mit.edu	37	chr21	41559185	41559185	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttcgggagggtctgggggCtctgtgccatcaacagaaag	15	8	3	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr21:41559185C>A	ENST00000400454.1	-	14	3129	c.2652G>T	c.(2650-2652)gaG>gaT	p.E884D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	884					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTCTGGGGGCTCTGTGCCAT	0.483													False	0	True	21:41559185	0	A	41559185	C	A	41559185	5	1	1	1	0	0	0	0	0	0	1	0	4798	811	28	3	3466	3	DSCAM	21	41559185	Splice_Site	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	981108	41559185	6570710	115	115											
SEZ6L	23544	broad.mit.edu	37	chr22	26736580	26736580	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttggaaagggccagggaTttatcatgaactacataggt	11	6	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:26736580T>C	ENST00000529632.2	+	10	2390	c.2194T>C	c.(2194-2196)Ttt>Ctt	p.F732L	SEZ6L_ENST00000404234.3_Missense_Mutation_p.F732L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.F732L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.F505L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.F505L|SEZ6L_ENST00000248933.6_Missense_Mutation_p.F732L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.F732L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	732	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGGCCAGGGATTTATCATGAA	0.458													False	0	True	22:26736580	0	C	26736580	T	C	26736580	3	2	1	1	0	0	0	0	1	0	0	0	14224	1493	52	4	2232	4	SEZ6L	22	26736580	Missense_Mutation	SNP	T	TCGA-2J-AAB1-01A-11D-A40W-08		26736580	24567986	116	116											
MOV10L1	54456	broad.mit.edu	37	chr22	50538027	50538027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctctggagagtgtgtgCgaaggtatgctcaggggtct	15	7	4	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chr22:50538027C>T	ENST00000262794.5	+	3	521	c.438C>T	c.(436-438)tgC>tgT	p.C146C	MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000395858.3_Silent_p.C146C|MOV10L1_ENST00000540615.1_Silent_p.C126C|MOV10L1_ENST00000545383.1_Silent_p.C146C|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	146					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGAGTGTGTGCGAAGGTATGC	0.512													False	0	True	22:50538027	0	T	50538027	C	T	50538027	2	4	1	1	0	0	0	0	0	0	0	1	9786	776	27	1		1	MOV10L1	22	50538027	Silent	SNP	C	TCGA-2J-AAB1-01A-11D-A40W-08	23801447	50538027	766539	117	117											
BMX	660	broad.mit.edu	37	chrX	15526493	15526493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatatggatacaaaatctaTtctagaagaacttcttctca	4	7	4	2			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:15526493T>C	ENST00000357607.2	+	2	205	c.17T>C	c.(16-18)aTt>aCt	p.I6T	BMX_ENST00000342014.6_Missense_Mutation_p.I6T|BMX_ENST00000348343.6_Missense_Mutation_p.I6T|BMX_ENST00000463891.1_Intron			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	6	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ACAAAATCTATTCTAGAAGAA	0.294													False	0	False	X:15526493	0	C	15526493	T	C	15526493	3	2	1	1	0	0	0	0	1	0	0	0	1478	1493	52	4	19	4	BMX	23	15526493	Missense_Mutation	SNP	T	TCGA-2J-AAB1-01A-11D-A40W-08		15526493	139744067	118	118											
OGT	8473	broad.mit.edu	37	chrX	70757810	70757810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattatcgacatgcattgcGtctcaaacctgatttcatcg	7	11	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:70757810G>A	ENST00000373719.3	+	3	567	c.350G>A	c.(349-351)cGt>cAt	p.R117H	OGT_ENST00000373701.3_Missense_Mutation_p.R107H|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	117					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.R117H(1)|p.R107H(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATGCATTGCGTCTCAAACCT	0.493													False	0	False	X:70757810	0	A	70757810	G	A	70757810	3	1	1	1	0	0	0	0	1	0	0	0	10915	1145	40	1	360	1	OGT	23	70757810	Missense_Mutation	SNP	G	TCGA-2J-AAB1-01A-11D-A40W-08	55231317	70757810	84512750	119	119											
CUL4B	8450	broad.mit.edu	37	chrX	119674244	119674244	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctataagttcagctggtttAtttggtcttttgttaatgaa	8	5	2	1			TCGA-2J-AAB1-01A-11D-A40W-08	TCGA-2J-AAB1-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3654586b-e1d2-42e7-8560-b339bd5e3488	8a1fecb6-04f4-413a-bed8-63fce4ac7072	g.chrX:119674244A>C	ENST00000371322.5	-	11	1678	c.1617T>G	c.(1615-1617)aaT>aaG	p.N539K	CUL4B_ENST00000404115.3_Missense_Mutation_p.N557K|CUL4B_ENST00000336592.6_Missense_Mutation_p.N544K	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	557					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCTGGTTTATTTGGTCTTT	0.308													False	0	True	X:119674244	0	C	119674244	A	C	119674244	3	2	1	1	0	0	0	0	1	0	0	0	4083	446	16	4	1110	4	CUL4B	23	119674244	Missense_Mutation	SNP	A	TCGA-2J-AAB1-01A-11D-A40W-08	48916434	119674244	35596316	120	120											
RPL22	6146	broad.mit.edu	37	chr1	6257817	6257818	+	Translation_Start_Site	INS	-	-	ACAGGAGCCATGGCGGCAGCGGAG													ccttcaccacaagctttttcINStaagaaaatacacaaatgat							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:6257817_6257818insACAGGAGCCATGGCGGCAGCGGAG	ENST00000484532.1	-	0	0				RPL22_ENST00000497965.1_Splice_Site|RPL22_ENST00000234875.4_Splice_Site			P35268	RL22_HUMAN	ribosomal protein L22						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAAGCTTTTTCTAAGAAAATAC	0.386			T	RUNX1	"AML, CML"								False	0	False	1:6257817	0	ACAGGAGCCATGGCGGCAGCGGAG	6257818	-	ACAGGAGCCATGGCGGCAGCGGAG	6257817	6	5	2	1	0	1	1	0	0	0	0	0	13647	927	32	0		0	RPL22	1	6257817	Translation_Start_Site	INS	-	TCGA-2J-AAB4-01A-12D-A40W-08		6257817	242992804	1	121											
DNAJC6	9829	broad.mit.edu	37	chr1	65845149	65845149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacctttttgctgtgtgtcGgaatatgtataactggctac	9	8	0	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:65845149G>A	ENST00000395325.3	+	5	594	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	DNAJC6_ENST00000263441.7_Missense_Mutation_p.R133Q|DNAJC6_ENST00000371069.4_Missense_Mutation_p.R203Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	146	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GCTGTGTGTCGGAATATGTAT	0.458													False	0	False	1:65845149	0	A	65845149	G	A	65845149	3	1	2	1	0	0	0	0	1	0	0	0	4683	1116	39	1	455	1	DNAJC6	1	65845149	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	59587332	65845149	183405472	2	122											
NTNG1	22854	broad.mit.edu	37	chr1	107867468	107867468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggctgttaagaccagccGttggggaaatatttgtagat	12	5	0	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:107867468G>A	ENST00000370067.1	+	3	1438	c.811G>A	c.(811-813)Gtt>Att	p.V271I	NTNG1_ENST00000370065.1_Missense_Mutation_p.V271I|NTNG1_ENST00000542803.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370071.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370073.2_Missense_Mutation_p.V271I|NTNG1_ENST00000370068.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370061.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370066.1_Missense_Mutation_p.V271I|NTNG1_ENST00000370072.3_Missense_Mutation_p.V271I|NTNG1_ENST00000370074.4_Missense_Mutation_p.V271I|NTNG1_ENST00000370070.2_Missense_Mutation_p.V271I|NTNG1_ENST00000477948.1_3'UTR			Q9Y2I2	NTNG1_HUMAN	netrin G1	271	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.V271I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AAGACCAGCCGTTGGGGAAAT	0.458													False	0	False	1:107867468	0	A	107867468	G	A	107867468	3	1	2	1	0	0	0	0	1	0	0	0	10772	1145	40	1	817	1	NTNG1	1	107867468	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	42022319	107867468	141383153	3	123											
CELSR2	1952	broad.mit.edu	37	chr1	109807559	109807559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagtctgtgtgtacccGcaagcccagtgccccccatg	10	17	1	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:109807559G>A	ENST00000271332.3	+	12	5595	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1845	EGF-like 6; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTGTGTACCCGCAAGCCCAGT	0.557													False	0	True	1:109807559	0	A	109807559	G	A	109807559	3	1	2	1	0	0	0	0	1	0	0	0	3245	1087	38	1	5580	1	CELSR2	1	109807559	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	1940091	109807559	139443062	4	124											
CD1B	910	broad.mit.edu	37	chr1	158300606	158300606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcatctggaaatcaccgGcaaagtcttgtacttctcga	7	10	5	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:158300606G>A	ENST00000368168.3	-	2	415	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	103					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GAAATCACCGGCAAAGTCTTG	0.433													False	0	False	1:158300606	0	A	158300606	G	A	158300606	3	1	2	1	0	0	0	0	1	0	0	0	2998	1203	42	2	713	2	CD1B	1	158300606	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	48493047	158300606	90950015	5	125											
ITLN1	55600	broad.mit.edu	37	chr1	160850421	160850421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgttttctgggcgtcGccaaaatcatagaccacagg	11	10	2	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:160850421G>A	ENST00000326245.3	-	6	757	c.642C>T	c.(640-642)ggC>ggT	p.G214G	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	214	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTGGGCGTCGCCAAAATCAT	0.443													False	0	False	1:160850421	0	A	160850421	G	A	160850421	2	1	2	1	0	0	0	0	0	0	0	1	7960	1074	38	1		1	ITLN1	1	160850421	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	2549815	160850421	88400200	6	126											
TRIM11	81559	broad.mit.edu	37	chr1	228584522	228584522	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaggacgttttcccaacaaCccaccaccatgacactgtga	7	14	0	3			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr1:228584522C>A	ENST00000366699.3	-	5	1223	c.985G>T	c.(985-987)Gtt>Ttt	p.V329F	RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000284551.6_Intron|TRIM11_ENST00000460651.1_Intron|TRIM11_ENST00000493030.2_Intron			Q96F44	TRI11_HUMAN	tripartite motif containing 11	0	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TTCCCAACAACCCACCACCAT	0.517													False	0	True	1:228584522	0	A	228584522	C	A	228584522	3	1	2	1	0	0	0	0	1	0	0	0	16570	522	18	3		3	TRIM11	1	228584522	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	67734101	228584522	20666099	7	127											
USP34	9736	broad.mit.edu	37	chr2	61448662	61448662	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atatcctctgcagaatataaGatgcaaagggaggcattcct	9	8	1	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:61448662G>A	ENST00000398571.2	-	66	7950	c.7874C>T	c.(7873-7875)tCt>tTt	p.S2625F	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2625					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAGAATATAAGATGCAAAGGG	0.383													False	0	False	2:61448662	0	A	61448662	G	A	61448662	3	1	2	1	0	0	0	0	1	0	0	0	17149	942	33	2	2826	2	USP34	2	61448662	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08		61448662	181750711	8	128											
CRYGD	1421	broad.mit.edu	37	chr2	208988981	208988981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagccgctgtccacgcgcGccgagttgcagcggctcaag	14	15	1	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:208988981G>A	ENST00000264376.4	-	2	134	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	36	Beta/gamma crystallin 'Greek key' 1.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTCCACGCGCGCCGAGTTGCA	0.652													False	0	True	2:208988981	0	A	208988981	G	A	208988981	3	1	2	1	0	0	0	0	1	0	0	0	3940	1087	38	1	425	1	CRYGD	2	208988981	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	147540319	208988981	34210392	9	129											
DNER	92737	broad.mit.edu	37	chr2	230312173	230312173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcaggtaaagtgtacccCgtccacatagcaggtgccgt	12	11	0	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr2:230312173C>T	ENST00000341772.4	-	8	1479	c.1345G>A	c.(1345-1347)Ggg>Agg	p.G449R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	449	EGF-like 6.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AAGTGTACCCCGTCCACATAG	0.572													False	0	True	2:230312173	0	T	230312173	C	T	230312173	3	4	2	1	0	0	0	0	1	0	0	0	4697	652	23	1	892	1	DNER	2	230312173	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	21323192	230312173	12887200	10	130											
FBLN2	2199	broad.mit.edu	37	chr3	13679189	13679189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcttccgcattggccccGcgccagccttcacgggggac	11	16	2	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:13679189G>A	ENST00000404922.3	+	18	3585	c.3466G>A	c.(3466-3468)Gcg>Acg	p.A1156T	FBLN2_ENST00000535798.1_Missense_Mutation_p.A1135T|FBLN2_ENST00000492059.1_Missense_Mutation_p.A1156T|FBLN2_ENST00000295760.7_Missense_Mutation_p.A1109T	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1109	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A1156T(2)|p.A575T(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATTGGCCCCGCGCCAGCCTT	0.622													False	0	True	3:13679189	0	A	13679189	G	A	13679189	3	1	2	1	0	0	0	0	1	0	0	0	5739	1087	38	1	2222	1	FBLN2	3	13679189	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08		13679189	184343241	11	131											
WDR48	57599	broad.mit.edu	37	chr3	39136218	39136218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctcaccctccattaccGtcagaagtccacgtgaaggc	8	15	2	3			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:39136218G>A	ENST00000302313.5	+	19	2046	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	WDR48_ENST00000418020.1_Missense_Mutation_p.R117H|WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.R591H|WDR48_ENST00000544962.1_Missense_Mutation_p.R398H	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	673					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTCCATTACCGTCAGAAGTCC	0.473													False	0	False	3:39136218	0	A	39136218	G	A	39136218	3	1	2	1	0	0	0	0	1	0	0	0	17385	1145	40	1	2092	1	WDR48	3	39136218	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	25457029	39136218	158886212	12	132											
ADAMTS9	56999	broad.mit.edu	37	chr3	64526867	64526867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattggcagtcatcgcgccGgctcccgttatagggacatt	11	12	1	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:64526867G>A	ENST00000498707.1	-	36	5767	c.5425C>T	c.(5425-5427)Cgg>Tgg	p.R1809W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1781W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1809	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCATCGCGCCGGCTCCCGTTA	0.473													False	0	False	3:64526867	0	A	64526867	G	A	64526867	3	1	2	1	0	0	0	0	1	0	0	0	273	1115	39	1	398	1	ADAMTS9	3	64526867	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	25390649	64526867	133495563	13	133											
PPP4R2	151987	broad.mit.edu	37	chr3	73047308	73047308	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagccaagactggagaaacaAtgtgagttgaaaacatgcat	10	6	0	4	rs150423598		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:73047308A>G	ENST00000356692.5	+	2	368	c.115A>G	c.(115-117)Atg>Gtg	p.M39V	PPP4R2_ENST00000394284.3_Splice_Site_p.I39V|PPP4R2_ENST00000495566.1_Splice_Site_p.M39V|PPP4R2_ENST00000295862.9_5'UTR			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	39					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TGGAGAAACAATGTGAGTTGA	0.348													False	0	False	3:73047308	0	G	73047308	A	G	73047308	5	3	2	1	0	0	0	0	0	0	1	0	12478	115	4	4	121	4	PPP4R2	3	73047308	Splice_Site	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08	8520441	73047308	124975122	14	134											
ACAP2	23527	broad.mit.edu	37	chr3	195027287	195027287	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcagtagcaatactggtctGaacagccttaatccatgcct	8	11	1	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr3:195027287G>A	ENST00000326793.6	-	13	1299	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	357	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ATACTGGTCTGAACAGCCTTA	0.383													False	0	False	3:195027287	0	A	195027287	G	A	195027287	4	1	2	1	0	0	0	0	0	1	0	0	119	1299	45	2	1311	2	ACAP2	3	195027287	Nonsense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	121979979	195027287	2995143	15	135											
EVC	2121	broad.mit.edu	37	chr4	5800472	5800472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgctgctggtgcatgcaCggaatgcagccaccaagagc	14	12	0	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr4:5800472C>T	ENST00000382674.2	+	15	2441	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Missense_Mutation_p.R753W			P57679	EVC_HUMAN	Ellis van Creveld syndrome	753					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGTGCATGCACGGAATGCAGC	0.637													False	0	True	4:5800472	0	T	5800472	C	T	5800472	3	4	2	1	0	0	0	0	1	0	0	0	5317	527	19	1	2315	1	EVC	4	5800472	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08		5800472	185353804	16	136											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	2	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-2J-AAB4-01A-12D-A40W-08		78610444	102304816	17	137											
PCDHA11	0	broad.mit.edu	37	chr5	140250312	140250312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgcgcgatgcgggcgtgCcgcctctgagcagcaacgtg	17	14	1	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr5:140250312C>T	ENST00000398640.2	+	1	1624	c.1624C>T	c.(1624-1626)Ccg>Tcg	p.P542S	PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCGTGCCGCCTCTGAG	0.692													False	0	False	5:140250312	0	T	140250312	C	T	140250312	3	4	2	1	0	0	0	0	1	0	0	0	11589	739	26	2	1626	2	PCDHA11	5	140250312	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	61639868	140250312	40664948	18	138											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	2	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-2J-AAB4-01A-12D-A40W-08		7393450	163721617	19	139											
GABBR1	0	broad.mit.edu	37	chr6	29574715	29574715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacgatctgccagatggCgagagtgaggacatccatgc	13	11	1	3			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:29574715C>T	ENST00000377034.4	-	18	2511	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	GABBR1_ENST00000355973.3_Missense_Mutation_p.A609T|GABBR1_ENST00000377016.4_Missense_Mutation_p.A664T|GABBR1_ENST00000377012.4_Missense_Mutation_p.A609T|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	726					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.A726T(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TGCCAGATGGCGAGAGTGAGG	0.577													False	0	False	6:29574715	0	T	29574715	C	T	29574715	3	4	2	1	0	0	0	0	1	0	0	0	6197	768	27	1	733	1	GABBR1	6	29574715	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	22181265	29574715	141540352	20	140											
ABCC10	89845	broad.mit.edu	37	chr6	43413586	43413586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcacgggagctgcggCgcctgggcagcctcaccctg	13	18	2	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:43413586C>T	ENST00000244533.3	+	13	3555	c.3196C>T	c.(3196-3198)Cgc>Tgc	p.R1066C	ABCC10_ENST00000372530.4_Missense_Mutation_p.R1094C	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1094	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGAGCTGCGGCGCCTGGGCAG	0.652													False	0	False	6:43413586	0	T	43413586	C	T	43413586	3	4	2	1	0	0	0	0	1	0	0	0	50	768	27	1	3246	1	ABCC10	6	43413586	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	13838871	43413586	127701481	21	141											
KLHL31	401265	broad.mit.edu	37	chr6	53519025	53519025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttttggctggcatttccGtaagcttgctccatccattt	7	11	0	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:53519025G>A	ENST00000370905.3	-	2	1186	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	KLHL31_ENST00000407079.1_Missense_Mutation_p.T349M	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGGCATTTCCGTAAGCTTGCT	0.483													False	0	False	6:53519025	0	A	53519025	G	A	53519025	3	1	2	1	0	0	0	0	1	0	0	0	8435	1145	40	1	866	1	KLHL31	6	53519025	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	10105439	53519025	117596042	22	142											
SYNE1	23345	broad.mit.edu	37	chr6	152539461	152539461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagggtcctgcccttgtagTatttcttcagcttccactat	7	12	2	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr6:152539461T>C	ENST00000367255.5	-	121	22723	c.22122A>G	c.(22120-22122)atA>atG	p.I7374M	SYNE1_ENST00000423061.1_Missense_Mutation_p.I7303M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7303M|SYNE1_ENST00000356820.4_Missense_Mutation_p.I1898M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I6986M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7374M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7374					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCCTTGTAGTATTTCTTCAG	0.433										HNSCC(10;0.0054)			False	0	False	6:152539461	0	C	152539461	T	C	152539461	3	2	2	1	0	0	0	0	1	0	0	0	15527	1628	57	4	4448	4	SYNE1	6	152539461	Missense_Mutation	SNP	T	TCGA-2J-AAB4-01A-12D-A40W-08	99020436	152539461	18575606	23	143											
DNAH11	8701	broad.mit.edu	37	chr7	21727066	21727066	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgctttgatgagttcaacCgaatctctgtggaagttctg	11	8	3	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:21727066C>A	ENST00000328843.6	+	35	5897	c.5866C>A	c.(5866-5868)Cga>Aga	p.R1956R	DNAH11_ENST00000409508.3_Silent_p.R1949R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1956	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAGTTCAACCGAATCTCTGT	0.443									Kartagener syndrome				False	0	False	7:21727066	0	A	21727066	C	A	21727066	2	1	2	1	0	0	0	0	0	0	0	1	4629	644	23	3		3	DNAH11	7	21727066	Silent	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08		21727066	137411597	24	144											
HECW1	23072	broad.mit.edu	37	chr7	43484825	43484869	+	In_Frame_Del	DEL	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	-													cagcccctcgtgctacagctCctcgtgctacagcacgtcct							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	-	-	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:43484825_43484869delCCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	ENST00000453890.1	+	10	2378_2422	c.2054_2098delCCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	c.(2053-2100)tcctcgtgctacagcacgtcctgctacagcagctcgtgctacagcgcc>tcc	p.SCYSTSCYSSSCYSA686del	HECW1_ENST00000395891.1_In_Frame_Del_p.SCYSTSCYSSSCYSA686del			Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	686	Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.S675L(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGCTACAGCTCCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCGCCTCGTGCTA	0.657													False	1	False	7:43484825	0	-	43484869	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	-	43484825	7	5	2	1	0	1	0	1	0	0	0	0	7089	855	30	0	2088	0	HECW1	7	43484825	In_Frame_Del	DEL	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	TCGA-2J-AAB4-01A-12D-A40W-08	21757759	43484825	115653838	25	145											
HECW1	23072	broad.mit.edu	37	chr7	43580819	43580819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccatcagtaccttcttgaCgctttcttcacgaggccctt	6	14	4	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:43580819C>T	ENST00000395891.2	+	25	4682	c.4077C>T	c.(4075-4077)gaC>gaT	p.D1359D	HECW1_ENST00000453890.1_Silent_p.D1325D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCTTCTTGACGCTTTCTTCA	0.522													False	0	False	7:43580819	0	T	43580819	C	T	43580819	2	4	2	1	0	0	0	0	0	0	0	1	7089	535	19	1		1	HECW1	7	43580819	Silent	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	95994	43580819	115557844	26	146											
SUMF2	25870	broad.mit.edu	37	chr7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaagagtgggagtttgCcgcccgagggggcttgaagg	21	6	0	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:56142409C>T	ENST00000434526.2	+	5	603	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	172						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	7:56142409	0	T	56142409	C	T	56142409	3	4	2	1	0	0	0	0	1	0	0	0	15468	739	26	2	590	2	SUMF2	7	56142409	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	12561590	56142409	102996254	27	147											
ZP3	7784	broad.mit.edu	37	chr7	76062797	76062797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctttcagagaactggaaCgctgagaagaggtcccccac	11	11	2	3			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr7:76062797C>T	ENST00000416245.1	+	3	1111	c.18C>T	c.(16-18)aaC>aaT	p.N6N	ZP3_ENST00000394857.3_Silent_p.N182N|ZP3_ENST00000336517.4_Silent_p.N131N			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	182					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						AGAACTGGAACGCTGAGAAGA	0.597													False	0	False	7:76062797	0	T	76062797	C	T	76062797	2	4	2	1	0	0	0	0	0	0	0	1	18299	535	19	1		1	ZP3	7	76062797	Silent	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	19920388	76062797	83075866	28	148											
DOCK8	81704	broad.mit.edu	37	chr9	372257	372257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgccttggaaaaattgCcacccaactactccatgcat	6	13	0	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:372257C>T	ENST00000432829.2	+	18	2192	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000453981.1_Missense_Mutation_p.P694S|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	694					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAAAATTGCCACCCAACTA	0.448													False	0	False	9:372257	0	T	372257	C	T	372257	3	4	2	1	0	0	0	0	1	0	0	0	4723	739	26	2	2150	2	DOCK8	9	372257	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08		372257	140841174	29	149											
KCNV2	169522	broad.mit.edu	37	chr9	2718192	2718192	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagacagacgaatacttcttCgaccgcgacccggccgtctt	9	15	2	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:2718192C>T	ENST00000382082.3	+	1	691	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	151						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AATACTTCTTCGACCGCGACC	0.652													False	0	False	9:2718192	0	T	2718192	C	T	2718192	2	4	2	1	0	0	0	0	0	0	0	1	8145	883	31	1		1	KCNV2	9	2718192	Silent	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	2345935	2718192	138495239	30	150											
RLN2	6019	broad.mit.edu	37	chr9	5304440	5304440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctccaggtgctcatgccGcaaatggcaatctgcgcgcg	12	13	2	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:5304440G>A	ENST00000381627.3	-	1	529	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RLN2_ENST00000308420.3_Silent_p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	47					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGCTCATGCCGCAAATGGCAA	0.552													False	0	False	9:5304440	0	A	5304440	G	A	5304440	2	1	2	1	0	0	0	0	0	0	0	1	13471	1079	38	1		1	RLN2	9	5304440	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	2586248	5304440	135908991	31	151											
SEC61B	10952	broad.mit.edu	37	chr9	101992661	101992668	+	Frame_Shift_Del	DEL	TTCTGTAT	TTCTGTAT	-													atgagtcttctgttcatcgcTtctgtatttatgttgcacat					rs1804433		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	TTCTGTAT	TTCTGTAT	-	-	TTCTGTAT	TTCTGTAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:101992661_101992668delTTCTGTAT	ENST00000498603.1	+	4	351_358	c.84_91delTTCTGTAT	c.(82-93)gcttctgtatttfs	p.SVF29fs	SEC61B_ENST00000223641.4_Frame_Shift_Del_p.SVF83fs			P60468	SC61B_HUMAN	Sec61 beta subunit	83					ER-associated protein catabolic process|protein import into nucleus, translocation|retrograde protein transport, ER to cytosol|transmembrane transport	endoplasmic reticulum Sec complex|integral to membrane	epidermal growth factor binding			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				TGTTCATCGCTTCTGTATTTATGTTGCA	0.38													False	1	False	9:101992661	0	-	101992668	TTCTGTAT	-	101992661	7	5	2	1	0	1	0	1	0	0	0	0	14083	1596	56	0	260	0	SEC61B	9	101992661	Frame_Shift_Del	DEL	TTCTGTAT	TCGA-2J-AAB4-01A-12D-A40W-08	96688221	101992661	39220770	32	152											
ZNF483	158399	broad.mit.edu	37	chr9	114304261	114304261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaccttgttctgaaccGcaaggagaaaaccgccggag	11	11	2	3			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:114304261G>A	ENST00000309235.5	+	6	1204	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	349					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R349H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTTCTGAACCGCAAGGAGAAA	0.423													False	0	False	9:114304261	0	A	114304261	G	A	114304261	3	1	2	1	0	0	0	0	1	0	0	0	18019	1087	38	1	1064	1	ZNF483	9	114304261	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	12311600	114304261	26909170	33	153											
DENND1A	57706	broad.mit.edu	37	chr9	126144428	126144428	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgcctgcagccccgggGccagggctgagcggctggag	18	14	0	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr9:126144428G>C	ENST00000373624.2	-	22	2514	c.2313C>G	c.(2311-2313)ggC>ggG	p.G771G	DENND1A_ENST00000542603.1_Silent_p.G556G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.G782G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	771	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CAGCCCCGGGGCCAGGGCTGA	0.716													False	0	True	9:126144428	0	C	126144428	G	C	126144428	2	2	2	1	0	0	0	0	0	0	0	1	4456	1190	42	5		5	DENND1A	9	126144428	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	11840167	126144428	15069003	34	154											
RASGEF1A	221002	broad.mit.edu	37	chr10	43697262	43697262	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggagcactcacctcatcAcactgggtgacacggtgtgt	12	12	3	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:43697262A>G	ENST00000395809.1	-	4	2959	c.453T>C	c.(451-453)tgT>tgC	p.C151C	RASGEF1A_ENST00000395810.1_Silent_p.C151C|RASGEF1A_ENST00000374459.1_Silent_p.C159C|RASGEF1A_ENST00000472864.1_5'UTR			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	151	N-terminal Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCACCTCATCACACTGGGTGA	0.617													False	0	False	10:43697262	0	G	43697262	A	G	43697262	2	3	2	1	0	0	0	0	0	0	0	1	13148	157	6	4		4	RASGEF1A	10	43697262	Silent	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08		43697262	91837485	35	155											
CXCL12	6387	broad.mit.edu	37	chr10	44876321	44876321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgtagctcaggctgacGggcttccctagaagaggtaa	12	10	2	3			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:44876321G>A	ENST00000374429.2	-	2	155	c.69C>T	c.(67-69)ccC>ccT	p.P23P	CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000343575.6_Silent_p.P23P|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000395793.3_Silent_p.P23P|CXCL12_ENST00000395794.2_Silent_p.P23P|CXCL12_ENST00000374426.2_Silent_p.P23P|CXCL12_ENST00000395795.4_Silent_p.P23P	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	23					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	p.P23P(3)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TCAGGCTGACGGGCTTCCCTA	0.507													False	0	True	10:44876321	0	A	44876321	G	A	44876321	2	1	2	1	0	0	0	0	0	0	0	1	4105	1103	39	1		1	CXCL12	10	44876321	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	1179059	44876321	90658426	36	156											
MARCH5	54708	broad.mit.edu	37	chr10	94109589	94109589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actctaatttacaaaggacaAtcttggtaagacggctttaa	7	7	2	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr10:94109589A>G	ENST00000358935.2	+	5	1047	c.715A>G	c.(715-717)Atc>Gtc	p.I239V		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	239					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACAAAGGACAATCTTGGTAAG	0.348													False	0	False	10:94109589	0	G	94109589	A	G	94109589	3	3	2	1	0	0	0	0	1	0	0	0	9371	101	4	4	733	4	MARCH5	10	94109589	Missense_Mutation	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08	49233268	94109589	41425158	37	157											
GANAB	23193	broad.mit.edu	37	chr11	62398507	62398512	+	In_Frame_Del	DEL	AGACTA	AGACTA	-													gggaaaaccatgtacctgtgAgactagcatattgccggaaa							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	AGACTA	AGACTA	-	-	AGACTA	AGACTA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:62398507_62398512delAGACTA	ENST00000346178.4	-	11	1221_1226	c.1206_1211delTAGTCT	c.(1204-1212)gctagtctc>gcc	p.SL403del	GANAB_ENST00000540933.1_In_Frame_Del_p.SL284del|GANAB_ENST00000534779.1_In_Frame_Del_p.SL289del|GANAB_ENST00000356638.3_In_Frame_Del_p.SL381del	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	381					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGTACCTGTGAGACTAGCATATTGCC	0.495													False	1	False	11:62398507	0	-	62398512	AGACTA	-	62398507	7	5	2	1	0	1	0	1	0	0	0	0	6276	304	11	0	1749	0	GANAB	11	62398507	In_Frame_Del	DEL	AGACTA	TCGA-2J-AAB4-01A-12D-A40W-08		62398507	72608009	38	158											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343247	130343247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgacaccgccccgggtccGctactccttctatctgccca	8	18	2	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr11:130343247G>A	ENST00000299164.2	+	8	2384	c.2384G>A	c.(2383-2385)cGc>cAc	p.R795H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	795	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCCCGGGTCCGCTACTCCTTC	0.657													False	0	False	11:130343247	0	A	130343247	G	A	130343247	3	1	2	1	0	0	0	0	1	0	0	0	260	1087	38	1	2414	1	ADAMTS15	11	130343247	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	67944740	130343247	4663269	39	159											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	2	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08		25398284	108453611	40	160											
LMBR1L	55716	broad.mit.edu	37	chr12	49491751	49491751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggatcagctctgcccGcacagctgcagtgaaggtct	13	14	3	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr12:49491751G>A	ENST00000267102.8	-	16	1720	c.1378C>T	c.(1378-1380)Cgg>Tgg	p.R460W	LMBR1L_ENST00000547382.1_Missense_Mutation_p.R440W|LMBR1L_ENST00000395141.4_Missense_Mutation_p.R455W	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	460					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCTCTGCCCGCACAGCTGCA	0.562											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	12:49491751	0	A	49491751	G	A	49491751	3	1	2	1	0	0	0	0	1	0	0	0	8894	1086	38	1	99	1	LMBR1L	12	49491751	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	24093467	49491751	84360144	41	161											
FBXO34	55030	broad.mit.edu	37	chr14	55818287	55818287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagttagagccgggttcGcaaactgccgtgaaaaacag	13	9	0	3			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr14:55818287G>A	ENST00000313833.4	+	2	1424	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	FBXO34_ENST00000440021.1_Silent_p.S393S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	393										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGCCGGGTTCGCAAACTGCCG	0.507													False	0	False	14:55818287	0	A	55818287	G	A	55818287	2	1	2	1	0	0	0	0	0	0	0	1	5784	1074	38	1		1	FBXO34	14	55818287	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08		55818287	51531253	42	162											
ATG2B	55102	broad.mit.edu	37	chr14	96769570	96769570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcaggtttgcatggcgggTagacttcatgctgaaacttc	11	8	2	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr14:96769570T>C	ENST00000359933.4	-	33	5758	c.4865A>G	c.(4864-4866)tAc>tGc	p.Y1622C	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1622										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCATGGCGGGTAGACTTCATG	0.433													False	0	True	14:96769570	0	C	96769570	T	C	96769570	3	2	2	1	0	0	0	0	1	0	0	0	1098	1638	57	4	1411	4	ATG2B	14	96769570	Missense_Mutation	SNP	T	TCGA-2J-AAB4-01A-12D-A40W-08	40951283	96769570	10579970	43	163											
TYRO3	7301	broad.mit.edu	37	chr15	41857341	41857342	+	Splice_Site	INS	-	-	G													cagtcctgtacagttcaggtINSaggctctccgggccgggcca							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579													False	0	False	15:41857341	0	G	41857342	-	G	41857341	8	5	2	1	0	1	1	0	0	0	1	0	16898	1652	57	0	807	0	TYRO3	15	41857341	Splice_Site	INS	-	TCGA-2J-AAB4-01A-12D-A40W-08		41857341	60674051	44	164											
VPS13C	54832	broad.mit.edu	37	chr15	62255003	62255003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caataatattttctagtcggGcaaaaagtgactgctttctt	7	7	2	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr15:62255003G>A	ENST00000261517.5	-	33	3453	c.3380C>T	c.(3379-3381)gCc>gTc	p.A1127V	VPS13C_ENST00000395898.3_Missense_Mutation_p.A1084V|VPS13C_ENST00000395896.4_Missense_Mutation_p.A1127V|VPS13C_ENST00000249837.3_Missense_Mutation_p.A1084V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1127					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTAGTCGGGCAAAAAGTGA	0.328													False	0	True	15:62255003	0	A	62255003	G	A	62255003	3	1	2	1	0	0	0	0	1	0	0	0	17275	1203	42	2	8121	2	VPS13C	15	62255003	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	20397662	62255003	40276389	45	165											
CASKIN1	57524	broad.mit.edu	37	chr16	2228635	2228635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgccagtgctcttttcCgccgccgagtcgctgcgggg	14	14	1	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:2228635C>T	ENST00000343516.6	-	20	4304	c.4212G>A	c.(4210-4212)gcG>gcA	p.A1404A		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1404					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TGCTCTTTTCCGCCGCCGAGT	0.716													False	0	True	16:2228635	0	T	2228635	C	T	2228635	2	4	2	1	0	0	0	0	0	0	0	1	2686	639	23	1		1	CASKIN1	16	2228635	Silent	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08		2228635	88126118	46	166											
MEFV	4210	broad.mit.edu	37	chr16	3293521	3293521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgtctccaacctccacctCccagtaacggcggccagaga	8	17	1	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:3293521C>T	ENST00000219596.1	-	10	2005	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.E445K|MEFV_ENST00000339854.4_Missense_Mutation_p.E476K	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	656	B30.2/SPRY.		E -> A (in arFMF).		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ACCTCCACCTCCCAGTAACGG	0.542													False	0	True	16:3293521	0	T	3293521	C	T	3293521	3	4	2	1	0	0	0	0	1	0	0	0	9526	864	30	2	383	2	MEFV	16	3293521	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	1064886	3293521	87061232	47	167											
DNAH3	55567	broad.mit.edu	37	chr16	21080894	21080894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccaaattgtcttgtatgcGaattagcttttcttcccatt	5	9	2	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:21080894G>A	ENST00000261383.3	-	23	3222	c.3223C>T	c.(3223-3225)Cgc>Tgc	p.R1075C	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1075C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1075	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1075C(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTTGTATGCGAATTAGCTTT	0.458													False	0	False	16:21080894	0	A	21080894	G	A	21080894	3	1	2	1	0	0	0	0	1	0	0	0	4633	1058	37	1	9286	1	DNAH3	16	21080894	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	17787373	21080894	69273859	48	168											
ABCC12	94160	broad.mit.edu	37	chr16	48145558	48145558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccattgctgcattgtAaaggtgttcaggatcctgga	10	9	1	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:48145558A>G	ENST00000311303.3	-	15	2485	c.2140T>C	c.(2140-2142)Tac>Cac	p.Y714H	ABCC12_ENST00000448542.1_Missense_Mutation_p.Y714H|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	714						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTGCATTGTAAAGGTGTTCA	0.488													False	0	True	16:48145558	0	G	48145558	A	G	48145558	3	3	2	1	0	0	0	0	1	0	0	0	52	362	13	4	1999	4	ABCC12	16	48145558	Missense_Mutation	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08	27064664	48145558	42209195	49	169											
BRD7	29117	broad.mit.edu	37	chr16	50368808	50368809	+	Splice_Site	INS	-	-	GGCTAAG													caggctctgaattctttcctINSaaacatattcgaaaatattc							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr16:50368808_50368809insGGCTAAG	ENST00000394688.3	-	7	862		c.e7-2		BRD7_ENST00000394689.2_Splice_Site			Q9NPI1	BRD7_HUMAN	bromodomain containing 7						cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AATTCTTTCCTAAACATATTCG	0.371													False	0	True	16:50368808	0	GGCTAAG	50368809	-	GGCTAAG	50368808	8	5	2	1	0	1	1	0	0	0	1	0	1512	1536	53	0	1301	0	BRD7	16	50368808	Splice_Site	INS	-	TCGA-2J-AAB4-01A-12D-A40W-08	2223250	50368808	39985945	50	170											
DLG4	1742	broad.mit.edu	37	chr17	7100076	7100076	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcaggccttccctcacCgacaggatctggtccccctt	11	16	2	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:7100076C>T	ENST00000399510.2	-	11	2064	c.1212G>A	c.(1210-1212)tcG>tcA	p.S404S	DLG4_ENST00000399506.2_Splice_Site_p.S361S|DLG4_ENST00000302955.6_Splice_Site_p.S358S	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	361					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CTTCCCTCACCGACAGGATCT	0.667													False	0	False	17:7100076	0	T	7100076	C	T	7100076	5	4	2	1	0	0	0	0	0	0	1	0	4587	666	23	1	1139	1	DLG4	17	7100076	Splice_Site	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08		7100076	74095134	51	171											
TP53	7157	broad.mit.edu	37	chr17	7578554	7578554	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgagggcaggggagtActgtaggaagaggaaggaga	19	3	0	3			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr17:7578554A>T	ENST00000420246.2	-	5	508	c.376T>A	c.(376-378)Tac>Aac	p.Y126N	TP53_ENST00000413465.2_Splice_Site_p.Y126N|TP53_ENST00000445888.2_Splice_Site_p.Y126N|TP53_ENST00000455263.2_Splice_Site_p.Y126N|TP53_ENST00000269305.4_Splice_Site_p.Y126N|TP53_ENST00000359597.4_Splice_Site_p.Y126N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGGGGAGTACTGTAGGAAG	0.557		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)			False	0	False	17:7578554	0	T	7578554	A	T	7578554	5	4	2	1	0	0	0	0	0	0	1	0	16464	405	14	5	922	5	TP53	17	7578554	Splice_Site	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08	478478	7578554	73616656	52	172											
RBBP8	5932	broad.mit.edu	37	chr18	20602110	20602110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtattatgcagatatgccaGcagaagaaagagaaaagaaa	10	4	0	5			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr18:20602110G>A	ENST00000399722.2	+	18	2824	c.2473G>A	c.(2473-2475)Gca>Aca	p.A825T	RBBP8_ENST00000581687.1_Missense_Mutation_p.A3T|RBBP8_ENST00000399725.2_Silent_p.Q792Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.A825T|RBBP8_ENST00000360790.5_Missense_Mutation_p.A830T	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	825					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGATATGCCAGCAGAAGAAAG	0.353								Homologous recombination					False	0	False	18:20602110	0	A	20602110	G	A	20602110	3	1	2	1	0	0	0	0	1	0	0	0	13184	971	34	2	2539	2	RBBP8	18	20602110	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08		20602110	57475138	53	173											
SYT4	6860	broad.mit.edu	37	chr18	40853958	40853958	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtttctcttctgaagTaagggaagtgctggacttta	10	7	3	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr18:40853958T>A	ENST00000255224.3	-	2	804	c.436A>T	c.(436-438)Act>Tct	p.T146S	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.T128S	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	146						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTTCTGAAGTAAGGGAAGTG	0.448													False	0	False	18:40853958	0	A	40853958	T	A	40853958	3	1	2	1	0	0	0	0	1	0	0	0	15558	1638	57	5	853	5	SYT4	18	40853958	Missense_Mutation	SNP	T	TCGA-2J-AAB4-01A-12D-A40W-08	20251848	40853958	37223290	54	174											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	2	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-2J-AAB4-01A-12D-A40W-08		14083667	45045316	55	175											
ZNF506	440515	broad.mit.edu	37	chr19	19905821	19905821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggatgaaataaaggctTtgccacatttatcacacttg	8	7	1	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:19905821T>C	ENST00000443905.2	-	4	1022	c.875A>G	c.(874-876)aAa>aGa	p.K292R	ZNF506_ENST00000540806.2_Missense_Mutation_p.K292R|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000450683.2_Missense_Mutation_p.K260R			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AATAAAGGCTTTGCCACATTT	0.383													False	0	True	19:19905821	0	C	19905821	T	C	19905821	3	2	2	1	0	0	0	0	1	0	0	0	18035	1841	64	4	463	4	ZNF506	19	19905821	Missense_Mutation	SNP	T	TCGA-2J-AAB4-01A-12D-A40W-08	5822154	19905821	39223162	56	176											
ZNF345	25850	broad.mit.edu	37	chr19	37368703	37368703	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggagtgtgagaaagcctttaGaagtggttcaaaacttattc	11	5	1	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:37368703G>A	ENST00000529555.1	+	2	1759	c.971G>A	c.(970-972)aGa>aAa	p.R324K	ZNF345_ENST00000589046.1_Missense_Mutation_p.R324K|ZNF345_ENST00000420450.1_Missense_Mutation_p.R324K|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	324					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGCCTTTAGAAGTGGTTCA	0.413													False	0	False	19:37368703	0	A	37368703	G	A	37368703	3	1	2	1	0	0	0	0	1	0	0	0	17942	942	33	2	973	2	ZNF345	19	37368703	Missense_Mutation	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	17462882	37368703	21760280	57	177											
PSG1	0	broad.mit.edu	37	chr19	43383710	43383710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgatgcgctgtgtgcaGggaggggctgagagggttcc	18	7	0	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:43383710G>A	ENST00000244296.2	-	1	161	c.24C>T	c.(22-24)ccC>ccT	p.P8P	PSG1_ENST00000436291.2_Silent_p.P8P|PSG1_ENST00000595356.1_Silent_p.P8P|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Silent_p.P8P|PSG1_ENST00000312439.6_Silent_p.P8P|PSG1_ENST00000595124.1_Silent_p.P8P	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GCTGTGTGCAGGGAGGGGCTG	0.572													False	0	True	19:43383710	0	A	43383710	G	A	43383710	2	1	2	1	0	0	0	0	0	0	0	1	12729	987	35	2		2	PSG1	19	43383710	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	6015007	43383710	15745273	58	178											
RUVBL2	10856	broad.mit.edu	37	chr19	49507662	49507662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgggcacggggaagacGgccatcgccatgggtaagaa	16	11	0	2			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr19:49507662G>A	ENST00000413176.2	+	4	1265	c.117G>A	c.(115-117)acG>acA	p.T39T	RUVBL2_ENST00000595090.1_Silent_p.T84T|RUVBL2_ENST00000601968.1_Silent_p.T39T			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	84					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGGGGAAGACGGCCATCGCCA	0.612													False	0	False	19:49507662	0	A	49507662	G	A	49507662	2	1	2	1	0	0	0	0	0	0	0	1	13832	1103	39	1		1	RUVBL2	19	49507662	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08	6123952	49507662	9621321	59	179											
TGM3	7053	broad.mit.edu	37	chr20	2290352	2290352	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggccttcaaccgacaagcGcatcacacagacaagttctc	7	15	3	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr20:2290352G>T	ENST00000381458.5	+	2	120	c.57G>T	c.(55-57)gcG>gcT	p.A19A		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	19					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACCGACAAGCGCATCACACAG	0.517													False	0	False	20:2290352	0	T	2290352	G	T	2290352	2	4	2	1	0	0	0	0	0	0	0	1	15913	1074	38	3		3	TGM3	20	2290352	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08		2290352	60735168	60	180											
RPRD1B	58490	broad.mit.edu	37	chr20	36687836	36687836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgcaggatctggaaaatgCcgcatcaggggatgctactg	13	8	2	0			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr20:36687836C>T	ENST00000373433.4	+	5	971	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	190										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CTGGAAAATGCCGCATCAGGG	0.413													False	0	False	20:36687836	0	T	36687836	C	T	36687836	3	4	2	1	0	0	0	0	1	0	0	0	13695	739	26	2	587	2	RPRD1B	20	36687836	Missense_Mutation	SNP	C	TCGA-2J-AAB4-01A-12D-A40W-08	34397484	36687836	26337684	61	181											
ABCG1	9619	broad.mit.edu	37	chr21	43706012	43706012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacgtcctgagtcaaggacAatgtgtgtaccggggaaaag	13	7	1	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chr21:43706012A>G	ENST00000398437.1	+	9	1467	c.1319A>G	c.(1318-1320)cAa>cGa	p.Q440R	ABCG1_ENST00000343687.3_Missense_Mutation_p.Q305R|ABCG1_ENST00000347800.2_Missense_Mutation_p.Q291R|ABCG1_ENST00000398449.3_Missense_Mutation_p.Q294R|ABCG1_ENST00000361802.2_Missense_Mutation_p.Q294R|ABCG1_ENST00000398457.2_Missense_Mutation_p.Q296R|ABCG1_ENST00000340588.4_Missense_Mutation_p.Q402R|ABCG1_ENST00000462050.1_3'UTR			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	294	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AGTCAAGGACAATGTGTGTAC	0.493													False	0	False	21:43706012	0	G	43706012	A	G	43706012	3	3	2	1	0	0	0	0	1	0	0	0	68	130	5	4	1079	4	ABCG1	21	43706012	Missense_Mutation	SNP	A	TCGA-2J-AAB4-01A-12D-A40W-08		43706012	4423883	62	182											
GK	2710	broad.mit.edu	37	chrX	30718984	30718984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagtctgctgcattggtGggacaaatgtgcttccagat	12	9	1	1			TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:30718984G>A	ENST00000378943.3	+	10	974	c.795G>A	c.(793-795)gtG>gtA	p.V265V	GK_ENST00000378945.3_Silent_p.V265V|GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000427190.1_Silent_p.V66V|GK_ENST00000378946.3_Silent_p.V271V	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	271					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CTGCATTGGTGGGACAAATGT	0.353													False	0	True	X:30718984	0	A	30718984	G	A	30718984	2	1	2	1	0	0	0	0	0	0	0	1	6465	1335	47	2		2	GK	23	30718984	Silent	SNP	G	TCGA-2J-AAB4-01A-12D-A40W-08		30718984	124551576	63	183											
IRS4	8471	broad.mit.edu	37	chrX	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-													ctgctgctagagctgccgctGccgccgctgctgcacctctt					rs2073114	byFrequency	TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616													False	2	True	X:107979510	0	-	107979512	GCC	-	107979510	7	5	2	1	0	1	0	1	0	0	0	0	7892	1319	46	0	3712	0	IRS4	23	107979510	In_Frame_Del	DEL	GCC	TCGA-2J-AAB4-01A-12D-A40W-08	77260526	107979510	47291050	64	184											
RBMX	27316	broad.mit.edu	37	chrX	135958816	135958817	+	Splice_Site	DEL	TG	TG	-													atggaatatccaccgtcatcTgcatcaaaaatagaaaagaa							TCGA-2J-AAB4-01A-12D-A40W-08	TCGA-2J-AAB4-10A-01D-A40W-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c536d586-b6ba-4e8d-9ada-9ec4e90a0197	dd10ada8-8304-481c-bf31-f471efa940a3	g.chrX:135958816_135958817delTG	ENST00000562646.1	-	5	543		c.e5-2		RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Splice_Site|RBMX_ENST00000320676.7_Splice_Site|RBMX_ENST00000565438.1_Splice_Site			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked							catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCGTCATCTGCATCAAAAAT	0.396													False	1	False	X:135958816	0	-	135958817	TG	-	135958816	8	5	2	1	0	1	0	1	0	0	1	0	13230	1594	55	0	863	0	RBMX	23	135958816	Splice_Site	DEL	TG	TCGA-2J-AAB4-01A-12D-A40W-08	27979306	135958816	19311744	65	185											
AJAP1	55966	broad.mit.edu	37	chr1	4772146	4772146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaggagtggacagccagcGcgggtcccggccccggtgtg	17	12	0	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:4772146G>A	ENST00000378191.4	+	2	597	c.216G>A	c.(214-216)gcG>gcA	p.A72A	AJAP1_ENST00000378190.3_Silent_p.A72A|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	72					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.A72A(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GACAGCCAGCGCGGGTCCCGG	0.771													False	0	True	1:4772146	0	A	4772146	G	A	4772146	2	1	3	1	0	0	0	0	0	0	0	1	438	1074	38	1		1	AJAP1	1	4772146	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		4772146	244478475	1	186											
GPR153	387509	broad.mit.edu	37	chr1	6313858	6313858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgcagagaggttttggCgggctccgagccatcgatgg	17	9	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:6313858C>T	ENST00000377893.2	-	3	965	c.706G>A	c.(706-708)Gcc>Acc	p.A236T		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	236						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GAGGTTTTGGCGGGCTCCGAG	0.677													False	0	True	1:6313858	0	T	6313858	C	T	6313858	3	4	3	1	0	0	0	0	1	0	0	0	6705	768	27	1	1139	1	GPR153	1	6313858	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	1541712	6313858	242936763	2	187											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	3	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-2J-AAB6-01A-11D-A40W-08	16673527	22987385	226263236	3	188											
LCE2C	353140	broad.mit.edu	37	chr1	152648628	152648628	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtttccctgcagtctcttCttgctgtggtcccagctctg	9	13	3	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152648628C>A	ENST00000368783.1	+	2	192	c.137C>A	c.(136-138)tCt>tAt	p.S46Y	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	46	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTCTCTTCTTGCTGTGGT	0.627													False	0	False	1:152648628	0	A	152648628	C	A	152648628	3	1	3	1	0	0	0	0	1	0	0	0	8718	913	32	3	139	3	LCE2C	1	152648628	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	129661243	152648628	96601993	4	189											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	3	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-2J-AAB6-01A-11D-A40W-08	22887	152671515	96579106	5	190											
TNR	7143	broad.mit.edu	37	chr1	175365844	175365844	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccccagggccgtcggctggTaagagatcacatattccgtc	11	14	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:175365844T>A	ENST00000367674.2	-	5	1784	c.1076A>T	c.(1075-1077)tAc>tTc	p.Y359F	TNR_ENST00000263525.2_Missense_Mutation_p.Y359F			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGTCGGCTGGTAAGAGATCAC	0.617													False	0	False	1:175365844	0	A	175365844	T	A	175365844	3	1	3	1	0	0	0	0	1	0	0	0	16420	1638	57	5	3076	5	TNR	1	175365844	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	22694329	175365844	73884777	6	191											
NPHS2	7827	broad.mit.edu	37	chr1	179530445	179530445	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agggcctttggctcttccagGaagcagatgtcccagtcgga	13	11	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:179530445G>T	ENST00000367615.4	-	3	498	c.430C>A	c.(430-432)Cct>Act	p.P144T	NPHS2_ENST00000367616.4_Missense_Mutation_p.P144T	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	144					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCTCTTCCAGGAAGCAGATGT	0.373													False	0	False	1:179530445	0	T	179530445	G	T	179530445	3	4	3	1	0	0	0	0	1	0	0	0	10651	1174	41	3	745	3	NPHS2	1	179530445	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	4164601	179530445	69720176	7	192											
ASPM	259266	broad.mit.edu	37	chr1	197112823	197112823	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagtgggctcctaactcTgtcaactttttgggaaacac	9	9	2	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:197112823T>G	ENST00000367409.4	-	3	815	c.559A>C	c.(559-561)Aga>Cga	p.R187R	ASPM_ENST00000294732.7_Silent_p.R187R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	187					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCCTAACTCTGTCAACTTTT	0.343													False	0	False	1:197112823	0	G	197112823	T	G	197112823	2	3	3	1	0	0	0	0	0	0	0	1	1060	1588	55	4		4	ASPM	1	197112823	Silent	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	17582378	197112823	52137798	8	193											
OR14A16	284532	broad.mit.edu	37	chr1	247978702	247978702	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacatcaccgtgaggaggagCagctctgcagatgctgaaga	14	9	2	4			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:247978702C>A	ENST00000357627.1	-	1	329	c.330G>T	c.(328-330)ctG>ctT	p.L110L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGAGGAGGAGCAGCTCTGCAG	0.468													False	0	True	1:247978702	0	A	247978702	C	A	247978702	2	1	3	1	0	0	0	0	0	0	0	1	11013	697	25	3		3	OR14A16	1	247978702	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	50865879	247978702	1271919	9	194											
OR2L8	391190	broad.mit.edu	37	chr1	248112943	248112943	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctacacttatctacgtccaAgatccctgcgatctccaaca	4	15	3	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248112943A>C	ENST00000357191.3	+	1	784	c.784A>C	c.(784-786)Aga>Cga	p.R262R	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCTACGTCCAAGATCCCTGCG	0.483													False	0	False	1:248112943	0	C	248112943	A	C	248112943	2	2	3	1	0	0	0	0	0	0	0	1	11077	64	3	4		4	OR2L8	1	248112943	Silent	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	134241	248112943	1137678	10	195											
OR2L2	26246	broad.mit.edu	37	chr1	248202362	248202362	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtacgtccaagatccctgCgatctccaacagaggacaag	9	12	1	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248202362C>T	ENST00000366479.2	+	1	889	c.793C>T	c.(793-795)Cga>Tga	p.R265*	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			AAGATCCCTGCGATCTCCAAC	0.498													False	0	False	1:248202362	0	T	248202362	C	T	248202362	4	4	3	1	0	0	0	0	0	1	0	0	11075	760	27	1	795	1	OR2L2	1	248202362	Nonsense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	89419	248202362	1048259	11	196											
OR2T6	254879	broad.mit.edu	37	chr1	248551551	248551551	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgatccccttctcggtggtGactgcatcctacaccaggat	9	14	1	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248551551G>C	ENST00000355728.2	+	1	642	c.642G>C	c.(640-642)gtG>gtC	p.V214V		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCGGTGGTGACTGCATCCT	0.537													False	0	False	1:248551551	0	C	248551551	G	C	248551551	2	2	3	1	0	0	0	0	0	0	0	1	11097	1277	45	5		5	OR2T6	1	248551551	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	349189	248551551	699070	12	197											
MYT1L	23040	broad.mit.edu	37	chr2	1893097	1893097	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcccagcagtcgccctcGcccagctggaaacaccggtt	10	16	0	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:1893097G>A	ENST00000399161.2	-	16	3183	c.2436C>T	c.(2434-2436)ggC>ggT	p.G812G	MYT1L_ENST00000428368.2_Silent_p.G810G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	812					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGTCGCCCTCGCCCAGCTGGA	0.582													False	0	True	2:1893097	0	A	1893097	G	A	1893097	2	1	3	1	0	0	0	0	0	0	0	1	10174	1074	38	1		1	MYT1L	2	1893097	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		1893097	241306276	13	198											
KCNG3	170850	broad.mit.edu	37	chr2	42671164	42671164	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaaagctatggtagatAaaagtgataggtaatgccaa	10	5	0	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:42671164A>T	ENST00000306078.1	-	2	1816	c.1221T>A	c.(1219-1221)ttT>ttA	p.F407L	KCNG3_ENST00000394973.4_Missense_Mutation_p.F396L	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	407						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TATGGTAGATAAAAGTGATAG	0.398													False	0	True	2:42671164	0	T	42671164	A	T	42671164	3	4	3	1	0	0	0	0	1	0	0	0	8079	359	13	5	93	5	KCNG3	2	42671164	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	40778067	42671164	200528209	14	199											
FSHR	0	broad.mit.edu	37	chr2	49190190	49190190	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggaggcagaaatggcaaaGaaagaaatgggtgccatgca	15	5	0	3			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:49190190G>T	ENST00000406846.2	-	10	1889	c.1770C>A	c.(1768-1770)ttC>ttA	p.F590L	FSHR_ENST00000346173.3_Missense_Mutation_p.F528L|FSHR_ENST00000304421.4_Missense_Mutation_p.F564L|FSHR_ENST00000541117.1_Missense_Mutation_p.F326L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	590					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.F590L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AAATGGCAAAGAAAGAAATGG	0.532									Gonadal Dysgenesis, 46 XX				False	0	True	2:49190190	0	T	49190190	G	T	49190190	3	4	3	1	0	0	0	0	1	0	0	0	6115	933	33	3	321	3	FSHR	2	49190190	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	6519026	49190190	194009183	15	200											
GGCX	2677	broad.mit.edu	37	chr2	85779621	85779621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatacttgggaagcaggcGgctcaggcaagtggcatatt	13	7	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:85779621G>A	ENST00000233838.4	-	10	1437	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	GGCX_ENST00000430215.3_Missense_Mutation_p.R396C|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GGAAGCAGGCGGCTCAGGCAA	0.522											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:85779621	0	A	85779621	G	A	85779621	3	1	3	1	0	0	0	0	1	0	0	0	6401	1116	39	1	943	1	GGCX	2	85779621	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	36589431	85779621	157419752	16	201											
ARHGEF4	50649	broad.mit.edu	37	chr2	131797606	131797606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgagggtgaatcaggaCgagcccgcggatgacgacgc	16	11	1	3			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:131797606C>T	ENST00000392953.3	+	7	1284	c.765C>T	c.(763-765)gaC>gaT	p.D255D	ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Silent_p.D184D|ARHGEF4_ENST00000326016.5_Silent_p.D255D|ARHGEF4_ENST00000409303.1_Silent_p.D255D|ARHGEF4_ENST00000525839.1_Silent_p.D255D	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	255					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGAATCAGGACGAGCCCGCGG	0.731													False	0	False	2:131797606	0	T	131797606	C	T	131797606	2	4	3	1	0	0	0	0	0	0	0	1	910	535	19	1		1	ARHGEF4	2	131797606	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	46017985	131797606	111401767	17	202											
POTEE	445582	broad.mit.edu	37	chr2	132021474	132021474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgaaccccaaggccaacCgcgagaagatgacccagatc	9	16	0	5			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:132021474C>T	ENST00000356920.5	+	15	2540	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	816	Actin-like.						ATP binding	p.R816C(1)									CAAGGCCAACCGCGAGAAGAT	0.612													False	0	False	2:132021474	0	T	132021474	C	T	132021474	3	4	3	1	0	0	0	0	1	0	0	0	12333	652	23	1	2504	1	POTEE	2	132021474	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	223868	132021474	111177899	18	203											
TTN	7273	broad.mit.edu	37	chr2	179455980	179455980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggctactgttttgctacCggctgcattggaaactgtga	11	9	0	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:179455980C>T	ENST00000589042.1	-	304	60696	c.60472G>A	c.(60472-60474)Ggt>Agt	p.G20158S	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11218S|TTN_ENST00000460472.2_Missense_Mutation_p.G11093S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17590S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11285S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G18517S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18517	Fibronectin type-III 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTGCTACCGGCTGCATTG	0.418													False	0	False	2:179455980	0	T	179455980	C	T	179455980	3	4	3	1	0	0	0	0	1	0	0	0	16819	652	23	1	47743	1	TTN	2	179455980	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	47434506	179455980	63743393	19	204											
SESTD1	91404	broad.mit.edu	37	chr2	180014068	180014068	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttatcacttccattgttaatCaaagcaagttcatctaataa	3	8	4	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:180014068C>G	ENST00000428443.3	-	7	853	c.537G>C	c.(535-537)ttG>ttC	p.L179F		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	179					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATTGTTAATCAAAGCAAGTT	0.294													False	0	True	2:180014068	0	G	180014068	C	G	180014068	3	3	3	1	0	0	0	0	1	0	0	0	14208	825	29	5	1601	5	SESTD1	2	180014068	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	558088	180014068	63185305	20	205											
MAP2	4133	broad.mit.edu	37	chr2	210574822	210574822	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtctgccatcttggtgccGagtgagaagaaggtcgccat	13	9	2	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:210574822G>A	ENST00000360351.4	+	12	5423	c.4917G>A	c.(4915-4917)ccG>ccA	p.P1639P	MAP2_ENST00000447185.1_Silent_p.P1635P|MAP2_ENST00000199940.6_Silent_p.P340P|MAP2_ENST00000392194.1_Silent_p.P283P|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Silent_p.P283P	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1639					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCTTGGTGCCGAGTGAGAAGA	0.542													False	0	False	2:210574822	0	A	210574822	G	A	210574822	2	1	3	1	0	0	0	0	0	0	0	1	9302	1045	37	1		1	MAP2	2	210574822	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	30560754	210574822	32624551	21	206											
TMEM198	130612	broad.mit.edu	37	chr2	220409474	220409474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggactgtggcaacactgCggttccagctgctgccccct	13	15	0	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:220409474C>T	ENST00000344458.2	+	3	610	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	TMEM198_ENST00000373883.3_Missense_Mutation_p.R9W			Q66K66	TM198_HUMAN	transmembrane protein 198	9						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCAACACTGCGGTTCCAGCT	0.617													False	0	False	2:220409474	0	T	220409474	C	T	220409474	3	4	3	1	0	0	0	0	1	0	0	0	16201	759	27	1	27	1	TMEM198	2	220409474	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	9834652	220409474	22789899	22	207											
SP140	11262	broad.mit.edu	37	chr2	231120208	231120208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtgtgatggagaagagCgccaggaagcctctagctcc	13	9	1	3			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:231120208C>T	ENST00000392045.3	+	12	1315	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	SP140_ENST00000350136.5_Missense_Mutation_p.R270C|SP140_ENST00000343805.6_Missense_Mutation_p.R341C|SP140_ENST00000417495.3_Missense_Mutation_p.R287C|SP140_ENST00000486687.2_Missense_Mutation_p.R325C|SP140_ENST00000420434.3_Intron	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	401					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGAGAAGAGCGCCAGGAAGC	0.527													False	0	False	2:231120208	0	T	231120208	C	T	231120208	3	4	3	1	0	0	0	0	1	0	0	0	15042	768	27	1	1364	1	SP140	2	231120208	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	10710734	231120208	12079165	23	208											
KIF1A	547	broad.mit.edu	37	chr2	241713624	241713624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgctaagggtctcatcgTagttgatgtctgcaggactc	13	9	2	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:241713624T>C	ENST00000498729.2	-	12	1259	c.1013A>G	c.(1012-1014)tAc>tGc	p.Y338C	KIF1A_ENST00000320389.7_Missense_Mutation_p.Y338C	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	338	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTCTCATCGTAGTTGATGTC	0.572													False	0	False	2:241713624	0	C	241713624	T	C	241713624	3	2	3	1	0	0	0	0	1	0	0	0	8333	1638	57	4	4203	4	KIF1A	2	241713624	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	10593416	241713624	1485749	24	209											
NUP210	23225	broad.mit.edu	37	chr3	13360637	13360637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagcaagatcccggggcGtgcagacagtgtggtaggct	16	10	0	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:13360637G>A	ENST00000254508.5	-	39	5580	c.5498C>T	c.(5497-5499)aCg>aTg	p.T1833M		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1833					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ATCCCGGGGCGTGCAGACAGT	0.637													False	0	False	3:13360637	0	A	13360637	G	A	13360637	3	1	3	1	0	0	0	0	1	0	0	0	10828	1145	40	1	173	1	NUP210	3	13360637	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		13360637	184661793	25	210											
SCN5A	6331	broad.mit.edu	37	chr3	38662392	38662392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgaaggaaagtgaacgCgtgcaggcagaagcctcgag	15	10	0	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:38662392C>T	ENST00000413689.1	-	5	746	c.553G>A	c.(553-555)Gcg>Acg	p.A185T	SCN5A_ENST00000451551.2_Missense_Mutation_p.A185T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A185T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A185T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A185T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A185T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A185T|SCN5A_ENST00000333535.4_Missense_Mutation_p.A185T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A185T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A185T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	185					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AAAGTGAACGCGTGCAGGCAG	0.527													False	0	False	3:38662392	0	T	38662392	C	T	38662392	3	4	3	1	0	0	0	0	1	0	0	0	14003	768	27	1	5689	1	SCN5A	3	38662392	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	25301755	38662392	159360038	26	211											
CDC25A	993	broad.mit.edu	37	chr3	48219349	48219349	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acacacacacggtaccttcaGattctctccatcgagaaggt	7	13	2	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:48219349G>T	ENST00000302506.3	-	7	1087	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	CDC25A_ENST00000351231.3_Missense_Mutation_p.L187M	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	227					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GGTACCTTCAGATTCTCTCCA	0.448													False	0	False	3:48219349	0	T	48219349	G	T	48219349	3	4	3	1	0	0	0	0	1	0	0	0	3085	933	33	3	931	3	CDC25A	3	48219349	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	9556957	48219349	149803081	27	212											
PXK	54899	broad.mit.edu	37	chr3	58385103	58385103	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctcccggctcttacagatgCcgtaagtcaatcatatgcgt	8	12	4	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:58385103C>G	ENST00000463280.1	+	10	1172	c.1081C>G	c.(1081-1083)Cca>Gca	p.P361A	PXK_ENST00000484288.1_Splice_Site_p.P394A|PXK_ENST00000356151.2_Splice_Site_p.P394A|PXK_ENST00000302779.5_Splice_Site_p.P377A|PXK_ENST00000383715.4_Splice_Site_p.P377A|PXK_ENST00000536660.1_Splice_Site_p.P257A|PXK_ENST00000383716.3_Splice_Site_p.P361A|PXK_ENST00000479241.1_Splice_Site_p.P377A			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	394	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CTTACAGATGCCGTAAGTCAA	0.448													False	0	False	3:58385103	0	G	58385103	C	G	58385103	5	3	3	1	0	0	0	0	0	0	1	0	12928	753	26	5	1226	5	PXK	3	58385103	Splice_Site	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	10165754	58385103	139637327	28	213											
STXBP5L	9515	broad.mit.edu	37	chr3	120959317	120959317	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtggaggagcttggaacCttggagcacaaacatatcca	11	9	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:120959317C>A	ENST00000273666.6	+	14	1634	c.1363C>A	c.(1363-1365)Ctt>Att	p.L455I	STXBP5L_ENST00000497029.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L455I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	455					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCTTGGAACCTTGGAGCACA	0.323													False	0	False	3:120959317	0	A	120959317	C	A	120959317	3	1	3	1	0	0	0	0	1	0	0	0	15439	681	24	3	1413	3	STXBP5L	3	120959317	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	62574214	120959317	77063113	29	214											
TRH	7200	broad.mit.edu	37	chr3	129696025	129696025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagcaccctggtcggcGggcagcctgggtcagagagc	18	13	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:129696025G>A	ENST00000302649.3	+	3	1222	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	TRH_ENST00000507066.1_Missense_Mutation_p.R228Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	232					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCTGGTCGGCGGGCAGCCTGG	0.617													False	0	True	3:129696025	0	A	129696025	G	A	129696025	3	1	3	1	0	0	0	0	1	0	0	0	16561	1116	39	1	701	1	TRH	3	129696025	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	8736708	129696025	68326405	30	215											
PTPN13	0	broad.mit.edu	37	chr4	87622708	87622708	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagagacttctcttcaggaGagactgccacatatcgtcgt	9	11	2	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr4:87622708G>A	ENST00000436978.1	+	7	1429	c.949G>A	c.(949-951)Gag>Aag	p.E317K	PTPN13_ENST00000511467.1_Missense_Mutation_p.E317K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E317K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E317K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E317K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	317						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTCTTCAGGAGAGACTGCCAC	0.458													False	0	True	4:87622708	0	A	87622708	G	A	87622708	3	1	3	1	0	0	0	0	1	0	0	0	12859	943	33	2	971	2	PTPN13	4	87622708	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		87622708	103531568	31	216											
SH3TC2	79628	broad.mit.edu	37	chr5	148424197	148424197	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tactgaccaaccttgctgagAggtcctacgtaaaggaaaca	9	10	0	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr5:148424197A>T	ENST00000515425.1	-	4	385	c.284T>A	c.(283-285)cTc>cAc	p.L95H	SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L95H	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	95							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGCTGAGAGGTCCTACGT	0.438													False	0	False	5:148424197	0	T	148424197	A	T	148424197	3	4	3	1	0	0	0	0	1	0	0	0	14343	304	11	5	3638	5	SH3TC2	5	148424197	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08		148424197	32491063	32	217											
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861401	27861401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtccaccccgacaccgGcatctcatcgaaggccatgg	10	16	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:27861401G>A	ENST00000303806.4	+	1	199	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	54					nucleosome assembly	nucleosome|nucleus	DNA binding										CCCGACACCGGCATCTCATCG	0.557													False	0	False	6:27861401	0	A	27861401	G	A	27861401	3	1	3	1	0	0	0	0	1	0	0	0	7201	1203	42	2	163	2	HIST1H2BO	6	27861401	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		27861401	143253666	33	218											
IGF2R	3482	broad.mit.edu	37	chr6	160501166	160501166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcttctttccagaaaccGatgacggcgtcccctgtgtc	8	14	3	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:160501166G>A	ENST00000356956.1	+	39	5840	c.5692G>A	c.(5692-5694)Gat>Aat	p.D1898N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1898	Fibronectin type-II.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TCCAGAAACCGATGACGGCGT	0.532													False	0	False	6:160501166	0	A	160501166	G	A	160501166	3	1	3	1	0	0	0	0	1	0	0	0	7626	1058	37	1	5846	1	IGF2R	6	160501166	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	132639765	160501166	10613901	34	219											
RSPH10B2	728194	broad.mit.edu	37	chr7	6797473	6797473	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaatgcagctcaacgaagtGaaacccaaaaaagaccgcca	9	11	1	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:6797473G>A	ENST00000403107.1	+	2	552	c.165G>A	c.(163-165)gtG>gtA	p.V55V	RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000433859.2_Silent_p.V55V|RSPH10B2_ENST00000297186.3_Silent_p.V55V|RSPH10B2_ENST00000404077.1_Silent_p.V55V					radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						TCAACGAAGTGAAACCCAAAA	0.453													False	0	True	7:6797473	0	A	6797473	G	A	6797473	2	1	3	1	0	0	0	0	0	0	0	1	13783	1277	45	2		2	RSPH10B2	7	6797473	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		6797473	152341190	35	220											
PKD1L1	168507	broad.mit.edu	37	chr7	47970835	47970835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccgtggccacatcctcCgcacagcacagcagtctcag	9	18	1	0	rs141425680		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:47970835C>T	ENST00000289672.2	-	6	653	c.603G>A	c.(601-603)gcG>gcA	p.A201A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	201					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCACATCCTCCGCACAGCACA	0.607													False	0	True	7:47970835	0	T	47970835	C	T	47970835	2	4	3	1	0	0	0	0	0	0	0	1	12033	639	23	1		1	PKD1L1	7	47970835	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	41173362	47970835	111167828	36	221											
SEMA3A	10371	broad.mit.edu	37	chr7	83764207	83764207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcatccaaaaggaaggtaTgataactggagctgttggcc	11	9	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:83764207T>C	ENST00000265362.4	-	2	487	c.173A>G	c.(172-174)cAt>cGt	p.H58R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.H58R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AAGGAAGGTATGATAACTGGA	0.388													False	0	False	7:83764207	0	C	83764207	T	C	83764207	3	2	3	1	0	0	0	0	1	0	0	0	14105	1464	51	4	2206	4	SEMA3A	7	83764207	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	35793372	83764207	75374456	37	222											
ZSCAN21	7589	broad.mit.edu	37	chr7	99654807	99654807	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgatacccctggacccCgagaggccctgagccaactc	9	17	0	3			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:99654807C>T	ENST00000292450.4	+	2	342	c.178C>T	c.(178-180)Cga>Tga	p.R60*	ZSCAN21_ENST00000543588.1_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Nonsense_Mutation_p.R60*	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	60	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCTGGACCCCGAGAGGCCCT	0.577													False	0	True	7:99654807	0	T	99654807	C	T	99654807	4	4	3	1	0	0	0	0	0	1	0	0	18315	644	23	1	180	1	ZSCAN21	7	99654807	Nonsense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	15890600	99654807	59483856	38	223											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138749667	138749667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgagcccgcctgaaatgGcacaactcccctcggacagg	11	16	0	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:138749667G>A	ENST00000242351.5	-	8	2267	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P773S|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P651S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	651	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCCTGAAATGGCACAACTCCC	0.453													False	0	False	7:138749667	0	A	138749667	G	A	138749667	3	1	3	1	0	0	0	0	1	0	0	0	17658	1203	42	2	785	2	ZC3HAV1	7	138749667	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	39094860	138749667	20388996	39	224											
ZNF786	136051	broad.mit.edu	37	chr7	148767872	148767872	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgcgttctgatgtgctcGatgagctttgagtgtttcac	13	7	2	3			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:148767872G>A	ENST00000316286.9	-	3	2006	c.1734C>T	c.(1732-1734)atC>atT	p.I578I	ZNF786_ENST00000451334.3_Silent_p.I627I|ZNF786_ENST00000491431.1_Silent_p.I664I			Q8N393	ZN786_HUMAN	zinc finger protein 786	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGATGTGCTCGATGAGCTTTG	0.582													False	0	False	7:148767872	0	A	148767872	G	A	148767872	2	1	3	1	0	0	0	0	0	0	0	1	18240	1048	37	1		1	ZNF786	7	148767872	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	10018205	148767872	10370791	40	225											
SLC7A2	6542	broad.mit.edu	37	chr8	17409385	17409385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttaacacttatgatgccGtactacctcctcgatgaaaa	6	11	0	2	rs141741899	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:17409385G>A	ENST00000470360.1	+	8	1182	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	SLC7A2_ENST00000398090.3_Silent_p.P355P|SLC7A2_ENST00000004531.10_Silent_p.P355P|SLC7A2_ENST00000494857.1_Silent_p.P315P|SLC7A2_ENST00000522656.1_Silent_p.P315P			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	315					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTATGATGCCGTACTACCTCC	0.483													False	0	False	8:17409385	0	A	17409385	G	A	17409385	2	1	3	1	0	0	0	0	0	0	0	1	14777	1132	40	1		1	SLC7A2	8	17409385	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		17409385	128954637	41	226											
FGFR1	2260	broad.mit.edu	37	chr8	38275843	38275843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaggagagccgtgatggccGaaccagaagaaccccagagt	15	10	0	5			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:38275843G>A	ENST00000447712.2	-	10	2274	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	FGFR1_ENST00000425967.3_Missense_Mutation_p.R476W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R354W|FGFR1_ENST00000356207.5_Missense_Mutation_p.R356W|FGFR1_ENST00000341462.5_Missense_Mutation_p.R445W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R443W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R443W|FGFR1_ENST00000397103.1_Missense_Mutation_p.R356W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R443W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R435W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R443W	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	445					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.R445W(3)|p.R435W(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CGTGATGGCCGAACCAGAAGA	0.607		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						False	0	False	8:38275843	0	A	38275843	G	A	38275843	3	1	3	1	0	0	0	0	1	0	0	0	5903	1057	37	1	1171	1	FGFR1	8	38275843	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	20866458	38275843	108088179	42	227											
ZFAT	57623	broad.mit.edu	37	chr8	135614834	135614834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtcctgtgggtcatgCgcgtctcggatgtgcttgat	13	9	3	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:135614834C>T	ENST00000520727.1	-	7	1391	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000520356.1_Silent_p.A364A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552													False	0	False	8:135614834	0	T	135614834	C	T	135614834	2	4	3	1	0	0	0	0	0	0	0	1	17715	755	27	1		1	ZFAT	8	135614834	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	97338991	135614834	10749188	43	228											
C5	727	broad.mit.edu	37	chr9	123785771	123785772	+	Frame_Shift_Ins	INS	-	-	T													aggacatatttgatgccaggINStatttctgcctcttcagaaa							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:123785771_123785772insT	ENST00000223642.1	-	10	1055_1056	c.1026_1027insA	c.(1024-1029)atacctfs	p.P343fs		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	343					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTGATGCCAGGTATTTCTGCCT	0.411													False	1	False	9:123785771	0	T	123785772	-	T	123785771	7	5	3	1	0	1	1	0	0	0	0	0	2297	1261	44	0	4131	0	C5	9	123785771	Frame_Shift_Ins	INS	-	TCGA-2J-AAB6-01A-11D-A40W-08		123785771	17427660	44	229											
NTNG2	84628	broad.mit.edu	37	chr9	135114577	135114577	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctgcaagcacaacacgCgaggtcagcactgccagcac	10	15	2	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:135114577C>T	ENST00000393229.3	+	6	1917	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	NTNG2_ENST00000393228.4_Nonsense_Mutation_p.R373*|NTNG2_ENST00000360670.3_Nonsense_Mutation_p.R387*	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	381	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCACAACACGCGAGGTCAGCA	0.607													False	0	False	9:135114577	0	T	135114577	C	T	135114577	4	4	3	1	0	0	0	0	0	1	0	0	10773	760	27	1	1159	1	NTNG2	9	135114577	Nonsense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	11328806	135114577	6098854	45	230											
ZNF365	22891	broad.mit.edu	37	chr10	64136259	64136259	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgagctatgttaacttgtacAgcatttcacatgaacattcc	6	10	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:64136259A>T	ENST00000395254.3	+	2	587	c.307A>T	c.(307-309)Agc>Tgc	p.S103C	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.S103C|ZNF365_ENST00000395255.3_Missense_Mutation_p.S103C	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	62										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAACTTGTACAGCATTTCACA	0.498													False	0	False	10:64136259	0	T	64136259	A	T	64136259	3	4	3	1	0	0	0	0	1	0	0	0	17952	188	7	5	309	5	ZNF365	10	64136259	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08		64136259	71398488	46	231											
GPR26	2849	broad.mit.edu	37	chr10	125426411	125426411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgctgtgcagccggcggcCagacgagcgcctgcgcttcg	15	16	0	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:125426411C>T	ENST00000284674.1	+	1	541	c.488C>T	c.(487-489)cCa>cTa	p.P163L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	163					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AGCCGGCGGCCAGACGAGCGC	0.682													False	0	False	10:125426411	0	T	125426411	C	T	125426411	3	4	3	1	0	0	0	0	1	0	0	0	6730	594	21	2	490	2	GPR26	10	125426411	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	61290152	125426411	10108336	47	232											
TCERG1L	256536	broad.mit.edu	37	chr10	133058648	133058648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaccatggcagcggcggCggcggtggcgatggcaatgg	21	9	0	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:133058648C>T	ENST00000368642.4	-	4	815	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	244	Poly-Ala.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		gcagcggcggcggcggtggcg	0.662													False	0	True	10:133058648	0	T	133058648	C	T	133058648	3	4	3	1	0	0	0	0	1	0	0	0	15768	768	27	1	1066	1	TCERG1L	10	133058648	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	7632237	133058648	2476099	48	233											
MS4A1	931	broad.mit.edu	37	chr11	60235849	60235849	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattgaaattattccaatcCaagaagaggaagaagaagaa	8	5	0	6			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:60235849C>T	ENST00000534668.1	+	7	1091	c.802C>T	c.(802-804)Caa>Taa	p.Q268*	MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q101*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q255*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q268*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q268*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	268					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TATTCCAATCCAAGAAGAGGA	0.373													False	0	True	11:60235849	0	T	60235849	C	T	60235849	4	4	3	1	0	0	0	0	0	1	0	0	9921	595	21	2	824	2	MS4A1	11	60235849	Nonsense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08		60235849	74770667	49	234											
PITPNM1	9600	broad.mit.edu	37	chr11	67262964	67262964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggccggggggtcagtGgccaactcactgcccttcca	15	14	2	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:67262964G>A	ENST00000356404.3	-	16	2652	c.2427C>T	c.(2425-2427)gcC>gcT	p.A809A	PITPNM1_ENST00000436757.2_Silent_p.A808A|PITPNM1_ENST00000534749.1_Silent_p.A809A	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	809	DDHD.				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGGGTCAGTGGCCAACTCAC	0.647													False	0	False	11:67262964	0	A	67262964	G	A	67262964	2	1	3	1	0	0	0	0	0	0	0	1	12019	1335	47	2		2	PITPNM1	11	67262964	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	7027115	67262964	67743552	50	235											
GRIA4	0	broad.mit.edu	37	chr11	105836750	105836750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaaaacaaatggtggtacGacaaaggagaatgtggcagc	13	5	0	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:105836750G>A	ENST00000393127.2	+	15	2817	c.2371G>A	c.(2371-2373)Gac>Aac	p.D791N	GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.D791N|GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000282499.5_Intron	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	791					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.D791N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATGGTGGTACGACAAAGGAGA	0.418													False	0	False	11:105836750	0	A	105836750	G	A	105836750	3	1	3	1	0	0	0	0	1	0	0	0	6817	1058	37	1	2462	1	GRIA4	11	105836750	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	38573786	105836750	29169766	51	236											
GRIK4	2900	broad.mit.edu	37	chr11	120776148	120776148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggggatggcgtgtacggCgttcccgaggccaacggcac	17	11	0	0	rs144767530		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:120776148C>T	ENST00000527524.2	+	13	1709	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	GRIK4_ENST00000438375.2_Silent_p.G474G	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	474					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.G474G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GCGTGTACGGCGTTCCCGAGG	0.612													False	0	False	11:120776148	0	T	120776148	C	T	120776148	2	4	3	1	0	0	0	0	0	0	0	1	6823	755	27	1		1	GRIK4	11	120776148	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	14939398	120776148	14230368	52	237											
ETS1	2113	broad.mit.edu	37	chr11	128391808	128391808	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggccgtcgccactcacCcggggaggggaaaagctcca	13	16	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:128391808C>T	ENST00000345075.4	-	1	397	c.82G>A	c.(82-84)Gat>Aat	p.D28N	ETS1_ENST00000531611.1_Splice_Site_p.D28N|ETS1_ENST00000535549.1_Splice_Site_p.G28S|ETS1_ENST00000526145.2_Splice_Site_p.D28N|ETS1_ENST00000392668.4_Intron|ETS1_ENST00000319397.6_Splice_Site_p.D28N			P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	28					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CGCCACTCACCCGGGGAGGGG	0.652													False	0	True	11:128391808	0	T	128391808	C	T	128391808	5	4	3	1	0	0	0	0	0	0	1	0	5307	637	22	2	1275	2	ETS1	11	128391808	Splice_Site	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	7615660	128391808	6614708	53	238											
PRMT8	56341	broad.mit.edu	37	chr12	3701463	3701463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagattacctcactgtccGgaggggggaggaaatctacg	15	8	2	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:3701463G>A	ENST00000382622.3	+	9	1436	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	PRMT8_ENST00000452611.2_Missense_Mutation_p.R340Q|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	349					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.R349Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTCACTGTCCGGAGGGGGGAG	0.542													False	0	False	12:3701463	0	A	3701463	G	A	3701463	3	1	3	1	0	0	0	0	1	0	0	0	12618	1116	39	1	1080	1	PRMT8	12	3701463	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		3701463	130150432	54	239											
PLEKHA5	54477	broad.mit.edu	37	chr12	19501393	19501393	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caacagtggcagaagttgatGaatctaatggagaagaaaaa	11	4	1	5			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:19501393G>T	ENST00000538714.1	+	21	2639	c.2635G>T	c.(2635-2637)Gaa>Taa	p.E879*	PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.E987*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.E579*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.E803*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.E810*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.E821*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.E884*	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	821							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGAAGTTGATGAATCTAATGG	0.348													False	0	False	12:19501393	0	T	19501393	G	T	19501393	4	4	3	1	0	0	0	0	0	1	0	0	12128	1291	45	3	2853	3	PLEKHA5	12	19501393	Nonsense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	15799930	19501393	114350502	55	240											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	3	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	5896891	25398284	108453611	56	241											
CAPRIN2	65981	broad.mit.edu	37	chr12	30873750	30873750	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	caattggtcttttacctcagGagtctctgaggtcataaact	8	9	4	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:30873750G>C	ENST00000251071.5	-	12	2893	c.2143C>G	c.(2143-2145)Cct>Gct	p.P715A	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P715A|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P382A|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P715A|CAPRIN2_ENST00000395805.2_Intron	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	715					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTACCTCAGGAGTCTCTGAG	0.373													False	0	False	12:30873750	0	C	30873750	G	C	30873750	3	2	3	1	0	0	0	0	1	0	0	0	2656	1174	41	5	1268	5	CAPRIN2	12	30873750	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	5475466	30873750	102978145	57	242											
DNM1L	10059	broad.mit.edu	37	chr12	32861115	32861117	+	In_Frame_Del	DEL	AAG	AAG	-													ggattttgatgaaattcgacAagaaattgaaaatgaaacag							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:32861115_32861117delAAG	ENST00000452533.2	+	4	490_492	c.326_328delAAG	c.(325-330)caagaa>caa	p.E110del	DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000549701.1_In_Frame_Del_p.E110del|DNM1L_ENST00000381000.4_In_Frame_Del_p.E123del|DNM1L_ENST00000266481.6_In_Frame_Del_p.E110del|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000358214.5_In_Frame_Del_p.E123del|DNM1L_ENST00000553257.1_In_Frame_Del_p.E123del|DNM1L_ENST00000547312.1_In_Frame_Del_p.E110del	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	110	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAAATTCGACAAGAAATTGAAAA	0.291													False	1	False	12:32861115	0	-	32861117	AAG	-	32861115	7	5	3	1	0	1	0	1	0	0	0	0	4701	130	5	0	340	0	DNM1L	12	32861115	In_Frame_Del	DEL	AAG	TCGA-2J-AAB6-01A-11D-A40W-08	1987365	32861115	100990780	58	243											
PDZRN4	29951	broad.mit.edu	37	chr12	41966931	41966931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacccagtcctcttccGgacagagcagtaaagagtcg	10	14	1	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:41966931G>A	ENST00000298919.7	+	10	1958	c.1570G>A	c.(1570-1572)Gga>Aga	p.G524R	PDZRN4_ENST00000402685.2_Missense_Mutation_p.G784R|PDZRN4_ENST00000539469.2_Missense_Mutation_p.G526R			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	784							ubiquitin-protein ligase activity|zinc ion binding	p.G526R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTCCTCTTCCGGACAGAGCAG	0.512													False	0	False	12:41966931	0	A	41966931	G	A	41966931	3	1	3	1	0	0	0	0	1	0	0	0	11778	1117	39	1	2461	1	PDZRN4	12	41966931	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	9105816	41966931	91884964	59	244											
NFE2	4778	broad.mit.edu	37	chr12	54687147	54687148	+	Frame_Shift_Ins	INS	-	-	TATGTGAAAATATTTAGCCATGTTCTTGTTCTTCTAGCTA													tggggctcaaatgatggctcINSacttggagcattcagaccct							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:54687147_54687148insTATGTGAAAATATTTAGCCATGTTCTTGTTCTTCTAGCTA	ENST00000540264.2	-	2	641_642	c.132_133insTAGCTAGAAGAACAAGAACATGGCTAAATATTTTCACATA	c.(130-135)agtgagfs	p.E45fs	NFE2_ENST00000553070.1_Frame_Shift_Ins_p.E45fs|NFE2_ENST00000312156.4_Frame_Shift_Ins_p.E45fs|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Frame_Shift_Ins_p.E45fs			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	45	Required for interaction with MAPK8 (By similarity).|Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						AATGATGGCTCACTTGGAGCAT	0.51													False	0	False	12:54687147	0	TATGTGAAAATATTTAGCCATGTTCTTGTTCTTCTAGCTA	54687148	-	TATGTGAAAATATTTAGCCATGTTCTTGTTCTTCTAGCTA	54687147	7	5	3	1	0	1	1	0	0	0	0	0	10434	835	29	0	992	0	NFE2	12	54687147	Frame_Shift_Ins	INS	-	TCGA-2J-AAB6-01A-11D-A40W-08	12720216	54687147	79164748	60	245											
KSR2	283455	broad.mit.edu	37	chr12	117914339	117914339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcgggggacagctggcGgatgatctctggtgccaggt	18	8	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:117914339G>A	ENST00000425217.1	-	17	2479	c.2425C>T	c.(2425-2427)Cgc>Tgc	p.R809C	KSR2_ENST00000339824.5_Missense_Mutation_p.R838C|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	838	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACAGCTGGCGGATGATCTCT	0.582													False	0	False	12:117914339	0	A	117914339	G	A	117914339	3	1	3	1	0	0	0	0	1	0	0	0	8633	1116	39	1	356	1	KSR2	12	117914339	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	63227192	117914339	15937556	61	246											
SBNO1	55206	broad.mit.edu	37	chr12	123780517	123780517	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccatagctgtttctgttGgaccgcaagctgttgagact	11	9	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:123780517G>A	ENST00000420886.2	-	31	4119	c.4120C>T	c.(4120-4122)Caa>Taa	p.Q1374*	SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q1373*|SBNO1_ENST00000602398.1_Nonsense_Mutation_p.Q1374*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q1373*	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1374							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGTTTCTGTTGGACCGCAAGC	0.438													False	0	False	12:123780517	0	A	123780517	G	A	123780517	4	1	3	1	0	0	0	0	0	1	0	0	13942	1357	47	2	65	2	SBNO1	12	123780517	Nonsense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	5866178	123780517	10071378	62	247											
CENPJ	55835	broad.mit.edu	37	chr13	25466782	25466782	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccgcctccctgcctaccGcaagcttgtccttcttctcc	5	21	2	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:25466782G>A	ENST00000381884.4	-	10	3400	c.3215C>T	c.(3214-3216)gCg>gTg	p.A1072V	CENPJ_ENST00000545981.1_Splice_Site_p.A1072V	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1072					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CCTGCCTACCGCAAGCTTGTC	0.522													False	0	False	13:25466782	0	A	25466782	G	A	25466782	5	1	3	1	0	0	0	0	0	0	1	0	3257	1101	38	1	833	1	CENPJ	13	25466782	Splice_Site	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		25466782	89703096	63	248											
CKAP2	0	broad.mit.edu	37	chr13	53035900	53035900	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataataagaaataagactctAtcaagatccatagcatctga	5	7	3	4			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:53035900A>G	ENST00000378037.5	+	4	1032	c.942A>G	c.(940-942)ctA>ctG	p.L314L	CKAP2_ENST00000490903.1_Silent_p.L265L|CKAP2_ENST00000378034.3_Silent_p.L313L|CKAP2_ENST00000258607.5_Silent_p.L313L	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	314					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ATAAGACTCTATCAAGATCCA	0.388													False	0	False	13:53035900	0	G	53035900	A	G	53035900	2	3	3	1	0	0	0	0	0	0	0	1	3465	436	16	4		4	CKAP2	13	53035900	Silent	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	27569118	53035900	62133978	64	249											
PCDH9	5101	broad.mit.edu	37	chr13	66878849	66878849	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttataagacttcagatTtgccagaggaatgtctgtca	9	7	3	3			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:66878849T>A	ENST00000544246.1	-	5	4343	c.3652A>T	c.(3652-3654)Aat>Tat	p.N1218Y	PCDH9_ENST00000328454.5_Missense_Mutation_p.N1184Y|PCDH9_ENST00000456367.1_Missense_Mutation_p.N1184Y|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000377865.2_Missense_Mutation_p.N1218Y	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1218					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GACTTCAGATTTGCCAGAGGA	0.438													False	0	True	13:66878849	0	A	66878849	T	A	66878849	3	1	3	1	0	0	0	0	1	0	0	0	11586	1841	64	5	65	5	PCDH9	13	66878849	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	13842949	66878849	48291029	65	250											
SALL2	6297	broad.mit.edu	37	chr14	21991588	21991588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcagacaactcctcttcCggtgatggctgctgggactg	11	13	2	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:21991588C>T	ENST00000327430.3	-	2	2568	c.2274G>A	c.(2272-2274)ccG>ccA	p.P758P	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Silent_p.P621P	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	758							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ACTCCTCTTCCGGTGATGGCT	0.577													False	0	False	14:21991588	0	T	21991588	C	T	21991588	2	4	3	1	0	0	0	0	0	0	0	1	13890	639	23	1		1	SALL2	14	21991588	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08		21991588	85357952	66	251											
DHRS2	10202	broad.mit.edu	37	chr14	24108419	24108419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgcccgacgtctggccCgggacggggcccacgtggtc	15	17	1	0	rs74036809		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:24108419C>T	ENST00000250383.6	+	3	648	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	DHRS2_ENST00000344777.7_Missense_Mutation_p.R58W|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	36				L -> V (in Ref. 6; AA sequence).	C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ACGTCTGGCCCGGGACGGGGC	0.642													False	0	True	14:24108419	0	T	24108419	C	T	24108419	3	4	3	1	0	0	0	0	1	0	0	0	4520	643	23	1	178	1	DHRS2	14	24108419	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	2116831	24108419	83241121	67	252											
PRPF39	55015	broad.mit.edu	37	chr14	45578898	45578898	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatacttagaatttgaaaTtgaaaatgggactcatgaac	8	4	1	5			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:45578898T>C	ENST00000355765.6	+	8	1261	c.1091T>C	c.(1090-1092)aTt>aCt	p.I364T		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	364					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GAATTTGAAATTGAAAATGGG	0.333													False	0	True	14:45578898	0	C	45578898	T	C	45578898	3	2	3	1	0	0	0	0	1	0	0	0	12645	1493	52	4	1117	4	PRPF39	14	45578898	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	21470479	45578898	61770642	68	253											
PCNX	22990	broad.mit.edu	37	chr14	71500186	71500186	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattccagtacttttctccaTtttttgtggtttattagtgg	7	6	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:71500186T>G	ENST00000304743.2	+	17	4045	c.3599T>G	c.(3598-3600)aTt>aGt	p.I1200S	PCNX_ENST00000238570.5_Missense_Mutation_p.I1200S|PCNX_ENST00000439984.3_Missense_Mutation_p.I1089S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1200						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTTTTCTCCATTTTTTGTGGT	0.338													False	0	True	14:71500186	0	G	71500186	T	G	71500186	3	3	3	1	0	0	0	0	1	0	0	0	11659	1493	52	4	3665	4	PCNX	14	71500186	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08	25921288	71500186	35849354	69	254											
YLPM1	56252	broad.mit.edu	37	chr14	75248343	75248343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcctccacctctacctacaAtgccccctccagtgttgcct	5	19	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:75248343A>G	ENST00000325680.7	+	4	1721	c.1597A>G	c.(1597-1599)Atg>Gtg	p.M533V	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Missense_Mutation_p.M533V	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCTACCTACAATGCCCCCTCC	0.527													False	0	False	14:75248343	0	G	75248343	A	G	75248343	3	3	3	1	0	0	0	0	1	0	0	0	17570	101	4	4	1611	4	YLPM1	14	75248343	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	3748157	75248343	32101197	70	255											
PTPN21	11099	broad.mit.edu	37	chr14	88946299	88946299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcgcggatctcgggctgGctgtagaccagcgccgcggg	17	13	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:88946299G>A	ENST00000556564.1	-	13	1760	c.1476C>T	c.(1474-1476)agC>agT	p.S492S	PTPN21_ENST00000328736.3_Silent_p.S492S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	492						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCTCGGGCTGGCTGTAGACCA	0.677													False	0	True	14:88946299	0	A	88946299	G	A	88946299	2	1	3	1	0	0	0	0	0	0	0	1	12865	1194	42	2		2	PTPN21	14	88946299	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	13697956	88946299	18403241	71	256											
DUOXA2	405753	broad.mit.edu	37	chr15	45410081	45410081	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaggccgctctcccagacTtaaaatgtatcaccactaac	6	14	2	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:45410081T>G	ENST00000323030.5	+	6	1222	c.937T>G	c.(937-939)Tta>Gta	p.L313V	DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000267803.4_Intron|DUOXA1_ENST00000558996.1_3'UTR	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	313					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		TCTCCCAGACTTAAAATGTAT	0.627											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	15:45410081	0	G	45410081	T	G	45410081	3	3	3	1	0	0	0	0	1	0	0	0	4833	1606	56	4	959	4	DUOXA2	15	45410081	Missense_Mutation	SNP	T	TCGA-2J-AAB6-01A-11D-A40W-08		45410081	57121311	72	257											
FGF7	2252	broad.mit.edu	37	chr15	49776634	49776634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaaatcaaaaggggattcCtgtaagaggaaaaaaaacga	9	5	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:49776634C>T	ENST00000267843.4	+	4	1129	c.518C>T	c.(517-519)cCt>cTt	p.P173L	FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	173					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	AAGGGGATTCCTGTAAGAGGA	0.363													False	0	False	15:49776634	0	T	49776634	C	T	49776634	3	4	3	1	0	0	0	0	1	0	0	0	5897	681	24	2	528	2	FGF7	15	49776634	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	4366553	49776634	52754758	73	258											
PIF1	80119	broad.mit.edu	37	chr15	65116102	65116102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatggtgacgaagtcgcGgggccgcgggcccagcagct	18	12	0	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:65116102G>A	ENST00000268043.4	-	2	527	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PIF1_ENST00000333425.6_Missense_Mutation_p.R145C|PIF1_ENST00000559239.1_Missense_Mutation_p.R145C			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	145					negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						ACGAAGTCGCGGGGCCGCGGG	0.761													False	0	True	15:65116102	0	A	65116102	G	A	65116102	3	1	3	1	0	0	0	0	1	0	0	0	11952	1116	39	1	1540	1	PIF1	15	65116102	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	15339468	65116102	37415290	74	259											
FEM1B	10116	broad.mit.edu	37	chr15	68583276	68583276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggtgctgaggtgaatgCcgtggacaatgagggaaaca	16	6	0	3			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:68583276C>T	ENST00000306917.4	+	2	2195	c.1580C>T	c.(1579-1581)gCc>gTc	p.A527V		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	527					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GAGGTGAATGCCGTGGACAAT	0.463													False	0	False	15:68583276	0	T	68583276	C	T	68583276	3	4	3	1	0	0	0	0	1	0	0	0	5850	739	26	2	1586	2	FEM1B	15	68583276	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	3467174	68583276	33948116	75	260											
OR4F6	390648	broad.mit.edu	37	chr15	102345944	102345944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgaagccaatcactctGtggtctctgagtttgtgttc	11	8	3	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:102345944G>A	ENST00000328882.4	+	1	43	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAATCACTCTGTGGTCTCTGA	0.473													False	0	False	15:102345944	0	A	102345944	G	A	102345944	3	1	3	1	0	0	0	0	1	0	0	0	11134	1377	48	2	24	2	OR4F6	15	102345944	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	33762668	102345944	185448	76	261											
ZNF500	26048	broad.mit.edu	37	chr16	4803036	4803036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctccctgccatcaccgcCgtcctccaactggatcccag	6	20	1	0	rs142409847		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:4803036C>T	ENST00000219478.6	-	6	1083	c.784G>A	c.(784-786)Ggc>Agc	p.G262S	ZNF500_ENST00000591026.1_5'UTR|ZNF500_ENST00000545009.1_Missense_Mutation_p.G262S			O60304	ZN500_HUMAN	zinc finger protein 500	262					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCATCACCGCCGTCCTCCAAC	0.587													False	0	False	16:4803036	0	T	4803036	C	T	4803036	3	4	3	1	0	0	0	0	1	0	0	0	18031	652	23	1	662	1	ZNF500	16	4803036	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08		4803036	85551717	77	262											
HYDIN	54768	broad.mit.edu	37	chr16	70866926	70866926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatatagccttcttctgggCtaatggagaaatgaggctca	10	7	3	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:70866926C>A	ENST00000393567.2	-	80	13874	c.13724G>T	c.(13723-13725)aGc>aTc	p.S4575I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4575										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTCTGGGCTAATGGAGAA	0.408													False	0	True	16:70866926	0	A	70866926	C	A	70866926	3	1	3	1	0	0	0	0	1	0	0	0	7517	797	28	3	1669	3	HYDIN	16	70866926	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	66063890	70866926	19487827	78	263											
ADAD2	161931	broad.mit.edu	37	chr16	84228145	84228145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccaaacagcaggcagcGctctctgccctctgctacat	10	15	2	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:84228145G>A	ENST00000268624.3	+	3	825	c.732G>A	c.(730-732)gcG>gcA	p.A244A	RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000315906.5_Silent_p.A172A|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	172					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGCAGGCAGCGCTCTCTGCCC	0.642													False	0	True	16:84228145	0	A	84228145	G	A	84228145	2	1	3	1	0	0	0	0	0	0	0	1	232	1074	38	1		1	ADAD2	16	84228145	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	13361219	84228145	6126608	79	264											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576	by1000genomes	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			False	0	False	17:7577120	0	T	7577120	C	T	7577120	3	4	3	1	0	0	0	0	1	0	0	0	16464	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08		7577120	73618090	80	265											
GUCY2D	3000	broad.mit.edu	37	chr17	7917216	7917216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtggtgcagagggtgcGgagcccccctccactgtgtc	15	12	0	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:7917216G>A	ENST00000254854.4	+	12	2432	c.2282G>A	c.(2281-2283)cGg>cAg	p.R761Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	761	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CAGAGGGTGCGGAGCCCCCCT	0.622													False	0	False	17:7917216	0	A	7917216	G	A	7917216	3	1	3	1	0	0	0	0	1	0	0	0	6944	1116	39	1	2324	1	GUCY2D	17	7917216	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	340096	7917216	73277994	81	266											
MRPL45	84311	broad.mit.edu	37	chr17	36478035	36478035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctatgaccggtttggCcggttgatgtatggacagga	14	8	1	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:36478035C>T	ENST00000312513.5	+	7	848	c.687C>T	c.(685-687)ggC>ggT	p.G229G		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	229					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCGGTTTGGCCGGTTGATGT	0.438													False	0	False	17:36478035	0	T	36478035	C	T	36478035	2	4	3	1	0	0	0	0	0	0	0	1	9876	726	26	2		2	MRPL45	17	36478035	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	28560819	36478035	44717175	82	267											
STXBP4	252983	broad.mit.edu	37	chr17	53158469	53158469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccactgggaaggaatggaCgtagcatcccagcaacgctg	12	12	0	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:53158469C>T	ENST00000376352.2	+	16	1621	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	STXBP4_ENST00000434978.2_Missense_Mutation_p.R450C	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	472						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAGGAATGGACGTAGCATCCC	0.398													False	0	False	17:53158469	0	T	53158469	C	T	53158469	3	4	3	1	0	0	0	0	1	0	0	0	15437	536	19	1	1468	1	STXBP4	17	53158469	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	16680434	53158469	28036741	83	268											
AQP4	361	broad.mit.edu	37	chr18	24436417	24436417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactcataaaggccaccagCgaggacagctcctatgatgg	10	11	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr18:24436417C>T	ENST00000383168.4	-	5	858	c.730G>A	c.(730-732)Gct>Act	p.A244T	AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.A222T|AQP4_ENST00000581374.1_Missense_Mutation_p.A222T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	244					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AGGCCACCAGCGAGGACAGCT	0.433													False	0	False	18:24436417	0	T	24436417	C	T	24436417	3	4	3	1	0	0	0	0	1	0	0	0	830	768	27	1	245	1	AQP4	18	24436417	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08		24436417	53640831	84	269											
ZNF554	115196	broad.mit.edu	37	chr19	2834140	2834140	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtatttggaaaatgggCagtcattgaaccacggtatg	12	5	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:2834140C>T	ENST00000317243.5	+	5	1105	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAAATGGGCAGTCATTGAA	0.478													False	0	True	19:2834140	0	T	2834140	C	T	2834140	4	4	3	1	0	0	0	0	0	1	0	0	18068	711	25	2	925	2	ZNF554	19	2834140	Nonsense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08		2834140	56294843	85	270											
CCDC105	126402	broad.mit.edu	37	chr19	15131402	15131402	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcatgggtgaacctctccCgagcccccactccacgcaca	7	19	2	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:15131402C>T	ENST00000292574.3	+	3	887	c.805C>T	c.(805-807)Cga>Tga	p.R269*		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	269					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GAACCTCTCCCGAGCCCCCAC	0.597													False	0	True	19:15131402	0	T	15131402	C	T	15131402	4	4	3	1	0	0	0	0	0	1	0	0	2760	644	23	1	815	1	CCDC105	19	15131402	Nonsense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	12297262	15131402	43997581	86	271											
ZNF99	7652	broad.mit.edu	37	chr19	22940908	22940908	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggctgagaagtggttaaaAgctttgccacattcttcaca	10	8	2	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:22940908A>G	ENST00000397104.3	-	5	1529	c.1530T>C	c.(1528-1530)gcT>gcC	p.A510A	ZNF99_ENST00000596209.1_Silent_p.A601A					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTGGTTAAAAGCTTTGCCAC	0.378													False	0	True	19:22940908	0	G	22940908	A	G	22940908	2	3	3	1	0	0	0	0	0	0	0	1	18286	59	3	4		4	ZNF99	19	22940908	Silent	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	7809506	22940908	36188075	87	272											
TYROBP	7305	broad.mit.edu	37	chr19	36399086	36399086	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaccacttacagccagcagGagaggcaggagcaggagcct	13	12	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:36399086G>T	ENST00000585901.2	-	1	63	c.45C>A	c.(43-45)ctC>ctA	p.L15L	TYROBP_ENST00000589517.1_Silent_p.L15L|TYROBP_ENST00000424586.3_Silent_p.L15L|TYROBP_ENST00000262629.4_Silent_p.L15L|TYROBP_ENST00000544690.2_Silent_p.L15L			O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	15					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCAGCAGGAGAGGCAGGA	0.657													False	0	False	19:36399086	0	T	36399086	G	T	36399086	2	4	3	1	0	0	0	0	0	0	0	1	16899	1161	41	3		3	TYROBP	19	36399086	Silent	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	13458178	36399086	22729897	88	273											
ZNF585A	199704	broad.mit.edu	37	chr19	37644404	37644404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatatcttttcaaatttggCgcattcataagctttctccc	5	10	4	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:37644404C>T	ENST00000356958.4	-	5	655	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	ZNF585A_ENST00000292841.5_Missense_Mutation_p.A78T|ZNF585A_ENST00000355533.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.A78T			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAAATTTGGCGCATTCATAA	0.383													False	0	False	19:37644404	0	T	37644404	C	T	37644404	3	4	3	1	0	0	0	0	1	0	0	0	18100	768	27	1	1916	1	ZNF585A	19	37644404	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	1245318	37644404	21484579	89	274											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	12	14	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627													False	0	False	19:40395919	0	A	40395919	G	A	40395919	3	1	3	1	0	0	0	0	1	0	0	0	5818	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	2751515	40395919	18733064	90	275											
CEACAM4	1089	broad.mit.edu	37	chr19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctcgaccactgtatgCggcccctgggatatttgctt	10	12	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral to plasma membrane|membrane fraction		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488													False	0	False	19:42132119	0	T	42132119	C	T	42132119	3	4	3	1	0	0	0	0	1	0	0	0	3217	768	27	1	478	1	CEACAM4	19	42132119	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	1736200	42132119	16996864	91	276											
RSPH6A	81492	broad.mit.edu	37	chr19	46307741	46307741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtagttggcctcgttgccCgggaagggtgggtagctgac	18	8	0	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:46307741C>T	ENST00000221538.3	-	3	1564	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P	RSPH6A_ENST00000597055.1_Silent_p.P474P|RSPH6A_ENST00000600188.1_Silent_p.P210P	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	474						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCTCGTTGCCCGGGAAGGGTG	0.632													False	0	True	19:46307741	0	T	46307741	C	T	46307741	2	4	3	1	0	0	0	0	0	0	0	1	13786	639	23	1		1	RSPH6A	19	46307741	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	4175622	46307741	12821242	92	277											
PLEKHA4	0	broad.mit.edu	37	chr19	49362745	49362745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggggctcctcgccctccGcatctggagtccagagtgga	13	15	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:49362745G>A	ENST00000263265.6	-	7	1228	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	225	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTCGCCCTCCGCATCTGGAGT	0.637													False	0	False	19:49362745	0	A	49362745	G	A	49362745	3	1	3	1	0	0	0	0	1	0	0	0	12127	1086	38	1	1722	1	PLEKHA4	19	49362745	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08	3055004	49362745	9766238	93	278											
SIGLEC6	946	broad.mit.edu	37	chr19	52023419	52023419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtggaagtgtaggacagCgtagtggagctcctgctcat	14	8	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52023419C>T	ENST00000346477.3	-	7	1299	c.1231G>A	c.(1231-1233)Gct>Act	p.A411T	SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000391797.3_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A375T|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.A427T|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000474054.1_5'UTR	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	427					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTAGGACAGCGTAGTGGAGC	0.507													False	0	False	19:52023419	0	T	52023419	C	T	52023419	3	4	3	1	0	0	0	0	1	0	0	0	14393	768	27	1	86	1	SIGLEC6	19	52023419	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	2660674	52023419	7105564	94	279											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52149092	52149092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagctccttggcgtttcaCctgacaggtgaggttggtgc	14	10	1	3	rs111981406	by1000genomes	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52149092C>T	ENST00000360844.6	-	3	684	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	215	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.V215M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGCGTTTCACCTGACAGGTG	0.647													False	0	False	19:52149092	0	T	52149092	C	T	52149092	3	4	3	1	0	0	0	0	1	0	0	0	14390	507	18	2	567	2	SIGLEC14	19	52149092	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	125673	52149092	6979891	95	280											
FPR1	2357	broad.mit.edu	37	chr19	52249584	52249584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcttggtggcaataagccCataactgacagcaacgatgg	11	9	1	1			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52249584C>T	ENST00000595042.1	-	3	805	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	FPR1_ENST00000304748.4_Missense_Mutation_p.G222R	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	222					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GCAATAAGCCCATAACTGACA	0.517													False	0	True	19:52249584	0	T	52249584	C	T	52249584	3	4	3	1	0	0	0	0	1	0	0	0	6080	594	21	2	392	2	FPR1	19	52249584	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	100492	52249584	6879399	96	281											
ZNF845	91664	broad.mit.edu	37	chr19	53855452	53855452	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagctttcagtttcaaatcAaaccttgaaagacataggat	7	7	3	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:53855452A>G	ENST00000458035.1	+	4	1641	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000595091.1_Silent_p.S508S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388													False	0	True	19:53855452	0	G	53855452	A	G	53855452	2	3	3	1	0	0	0	0	0	0	0	1	18273	117	5	4		4	ZNF845	19	53855452	Silent	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	1605868	53855452	5273531	97	282											
MYL9	10398	broad.mit.edu	37	chr20	35177521	35177521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgggagctgctcaccaccAtgggtgaccgcttcacagat	11	14	2	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:35177521A>G	ENST00000279022.2	+	4	492	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.M76V|RP5-977B1.7_ENST00000439595.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	130	EF-hand 2.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCTCACCACCATGGGTGACCG	0.577													False	0	False	20:35177521	0	G	35177521	A	G	35177521	3	3	3	1	0	0	0	0	1	0	0	0	10121	217	8	4	398	4	MYL9	20	35177521	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08		35177521	27847999	98	283											
WFDC10A	140832	broad.mit.edu	37	chr20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaggataccgtgacaagaAgaggatgcagagtaggtgat	17	4	0	5			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region	serine-type endopeptidase inhibitor activity			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	20:44258532	0	T	44258532	A	T	44258532	3	4	3	1	0	0	0	0	1	0	0	0	17431	72	3	5	82	5	WFDC10A	20	44258532	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08	9081011	44258532	18766988	99	284											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-													atgcagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55													False	1	True	20:46279833	0	-	46279834	GC	-	46279833	7	5	3	1	0	1	0	1	0	0	0	0	10298	962	34	0	3859	0	NCOA3	20	46279833	Frame_Shift_Del	DEL	GC	TCGA-2J-AAB6-01A-11D-A40W-08	2021301	46279833	16745687	100	285											
TPTE	7179	broad.mit.edu	37	chr21	10951332	10951332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatagctagagaaatagaaCgatactccaaaggaatataa	7	6	0	2	rs113140892	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:10951332C>T	ENST00000298232.7	-	9	693	c.326G>A	c.(325-327)cGt>cAt	p.R109H	TPTE_ENST00000342420.5_Missense_Mutation_p.R89H|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R127H	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	127					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R109H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAAATAGAACGATACTCCAA	0.338													False	0	False	21:10951332	0	T	10951332	C	T	10951332	3	4	3	1	0	0	0	0	1	0	0	0	16513	536	19	1	1335	1	TPTE	21	10951332	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08		10951332	37178563	101	286											
ITGB2	3689	broad.mit.edu	37	chr21	46306690	46306690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttctccttctcaaagcgCctgtactcccggaggtcgct	9	15	2	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:46306690C>T	ENST00000397850.2	-	16	2660	c.2208G>A	c.(2206-2208)agG>agA	p.R736R	ITGB2_ENST00000397857.1_Silent_p.R736R|ITGB2_ENST00000397854.3_Silent_p.R679R|ITGB2_ENST00000302347.5_Silent_p.R736R|ITGB2_ENST00000355153.4_Silent_p.R736R|ITGB2_ENST00000397852.1_Silent_p.R736R			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	736					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TCTCAAAGCGCCTGTACTCCC	0.617													False	0	False	21:46306690	0	T	46306690	C	T	46306690	2	4	3	1	0	0	0	0	0	0	0	1	7944	738	26	2		2	ITGB2	21	46306690	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	35355358	46306690	1823205	102	287											
SGSM1	129049	broad.mit.edu	37	chr22	25294015	25294015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacagcccaagatccccaAtgggaacctagtgaacggca	10	12	0	2			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:25294015A>G	ENST00000400358.4	+	19	2156	c.2099A>G	c.(2098-2100)aAt>aGt	p.N700S	SGSM1_ENST00000400359.4_Missense_Mutation_p.N755S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	755	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AAGATCCCCAATGGGAACCTA	0.552													False	0	False	22:25294015	0	G	25294015	A	G	25294015	3	3	3	1	0	0	0	0	1	0	0	0	14303	101	4	4	2342	4	SGSM1	22	25294015	Missense_Mutation	SNP	A	TCGA-2J-AAB6-01A-11D-A40W-08		25294015	26010551	103	288											
MN1	4330	broad.mit.edu	37	chr22	28194913	28194945	+	In_Frame_Del	DEL	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	-													gctgctgttgctgttgctgtTgctgctgctgctgctgctgt					rs45480998		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	-	-	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194913_28194945delTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	ENST00000302326.4	-	1	2541_2573	c.1587_1619delGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCA	c.(1585-1620)cagcagcagcagcaacagcagcagcagcagcagcaa>caa	p.529_540QQQQQQQQQQQQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	529	Poly-Gln.						binding	p.Q550_R551insQ(1)|p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgttgctgttgctgctgctgctgctgctgttgctgctgctgctgctgctgct	0.661			T	ETV6	"AML, meningioma"								False	1	True	22:28194913	0	-	28194945	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	-	28194913	7	5	3	1	0	1	0	1	0	0	0	0	9740	1812	63	0	2351	0	MN1	22	28194913	In_Frame_Del	DEL	TGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TCGA-2J-AAB6-01A-11D-A40W-08	2900898	28194913	23109653	104	289											
MN1	4330	broad.mit.edu	37	chr22	28194939	28194939	+	Silent	SNP	C	C	T													tgctgctgctgctgttgctgCtgctgctgctgctgctgctg							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194939C>T	ENST00000302326.4	-	1	2547	c.1593G>A	c.(1591-1593)caG>caA	p.Q531Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	531	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgttgctgctgctgctgct	0.652			T	ETV6	"AML, meningioma"								False	0	True	22:28194939	0	T	28194939	C	T	28194939	2	4	3	1	0	0	0	0	0	0	0	1	9740	796	28	2		2	MN1	22	28194939	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	26	28194939	23109627	105	290	4	2									
MN1	4330	broad.mit.edu	37	chr22	28194945	28194945	+	Silent	SNP	C	C	T													tgctgctgttgctgctgctgCtgctgctgctgctgctgttg							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194945C>T	ENST00000302326.4	-	1	2541	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	529	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgctgctgctgct	0.647			T	ETV6	"AML, meningioma"								False	0	True	22:28194945	0	T	28194945	C	T	28194945	2	4	3	1	0	0	0	0	0	0	0	1	9740	796	28	2		2	MN1	22	28194945	Silent	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	6	28194945	23109621	106	291	4	2									
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31837984	31837984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcttgttctttggtgtaaCggttggcctgggacagtggg	15	6	2	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:31837984C>T	ENST00000397525.1	-	17	2550	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R431H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R602H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R752H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R776H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	776						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTTGGTGTAACGGTTGGCCTG	0.507													False	0	False	22:31837984	0	T	31837984	C	T	31837984	3	4	3	1	0	0	0	0	1	0	0	0	5067	536	19	1	642	1	EIF4ENIF1	22	31837984	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	3643039	31837984	19466582	107	292											
EFCAB6	64800	broad.mit.edu	37	chr22	43996133	43996133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtaatgtgcccttttccctCggtgtcgtatcttaaaacaa	7	10	1	0			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:43996133C>T	ENST00000262726.7	-	23	2945	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E746K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	898	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.E898K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTTTTCCCTCGGTGTCGTAT	0.428													False	0	False	22:43996133	0	T	43996133	C	T	43996133	3	4	3	1	0	0	0	0	1	0	0	0	4969	893	31	1	1853	1	EFCAB6	22	43996133	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	12158149	43996133	7308433	108	293											
LMF2	91289	broad.mit.edu	37	chr22	50941833	50941833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacagctacttctttcgcCgggtggtcctcgaactactg	9	13	1	0	rs144342127		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:50941833C>T	ENST00000216080.5	-	14	2204	c.2036G>A	c.(2035-2037)cGg>cAg	p.R679Q	LMF2_ENST00000380796.3_Missense_Mutation_p.R591Q|LMF2_ENST00000474879.2_Missense_Mutation_p.R704Q			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	704						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCTTTCGCCGGGTGGTCCT	0.672													False	0	True	22:50941833	0	T	50941833	C	T	50941833	3	4	3	1	0	0	0	0	1	0	0	0	8899	652	23	1	16	1	LMF2	22	50941833	Missense_Mutation	SNP	C	TCGA-2J-AAB6-01A-11D-A40W-08	6945700	50941833	362733	109	294											
CACNA1F	778	broad.mit.edu	37	chrX	49063557	49063557	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctgggatggtgaaaatgaGagccccagagcctctcctgg	13	10	2	3			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:49063557G>C	ENST00000376265.2	-	44	5234	c.5173C>G	c.(5173-5175)Ctc>Gtc	p.L1725V	CACNA1F_ENST00000376251.1_Missense_Mutation_p.L1660V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.L1714V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1725					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTGAAAATGAGAGCCCCAGAG	0.547													False	0	False	X:49063557	0	C	49063557	G	C	49063557	3	2	3	1	0	0	0	0	1	0	0	0	2563	942	33	5	780	5	CACNA1F	23	49063557	Missense_Mutation	SNP	G	TCGA-2J-AAB6-01A-11D-A40W-08		49063557	106207003	110	295											
RBMX	27316	broad.mit.edu	37	chrX	135958816	135958817	+	Splice_Site	DEL	TG	TG	-													atggaatatccaccgtcatcTgcatcaaaaatagaaaagaa							TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:135958816_135958817delTG	ENST00000562646.1	-	5	543		c.e5-2		RBMX_ENST00000565438.1_Splice_Site|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Splice_Site|RBMX_ENST00000320676.7_Splice_Site			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked							catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCGTCATCTGCATCAAAAAT	0.396													False	1	False	X:135958816	0	-	135958817	TG	-	135958816	8	5	3	1	0	1	0	1	0	0	1	0	13230	1594	55	0	863	0	RBMX	23	135958816	Splice_Site	DEL	TG	TCGA-2J-AAB6-01A-11D-A40W-08	86895259	135958816	19311744	111	296											
CAMTA1	23261	broad.mit.edu	37	chr1	7798217	7798217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcagtctgtccccgagaCactcagccccagtgaaggag	11	13	2	2	rs139225365		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:7798217C>T	ENST00000303635.7	+	16	4064	c.3857C>T	c.(3856-3858)aCa>aTa	p.T1286I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.T1286I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCCCCGAGACACTCAGCCCC	0.552			T	WWTR1	epitheliod hemangioendothelioma								False	0	False	1:7798217	0	T	7798217	C	T	7798217	3	4	4	1	0	0	0	0	1	0	0	0	2633	478	17	2	3919	2	CAMTA1	1	7798217	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		7798217	241452404	1	297											
PTCHD2	57540	broad.mit.edu	37	chr1	11561268	11561268	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccttcaccaatccgtgctgTgctgggctggtgctcttcct	11	14	2	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:11561268T>G	ENST00000294484.6	+	2	357	c.219T>G	c.(217-219)tgT>tgG	p.C73W	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C73W	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	73					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ATCCGTGCTGTGCTGGGCTGG	0.627													False	0	True	1:11561268	0	G	11561268	T	G	11561268	3	3	4	1	0	0	0	0	1	0	0	0	12809	1702	59	4	221	4	PTCHD2	1	11561268	Missense_Mutation	SNP	T	TCGA-2J-AAB8-01A-12D-A40W-08	3763051	11561268	237689353	2	298											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	4	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-2J-AAB8-01A-12D-A40W-08	11426117	22987385	226263236	3	299											
HIVEP3	59269	broad.mit.edu	37	chr1	42048455	42048455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcagagatgggctttgCgatctgaagctctgagcagt	14	9	2	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:42048455C>T	ENST00000372584.1	-	3	3028	c.2014G>A	c.(2014-2016)Gca>Aca	p.A672T	HIVEP3_ENST00000372583.1_Missense_Mutation_p.A672T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A672T|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A672T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	672	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATGGGCTTTGCGATCTGAAGC	0.463													False	0	False	1:42048455	0	T	42048455	C	T	42048455	3	4	4	1	0	0	0	0	1	0	0	0	7235	768	27	1	5230	1	HIVEP3	1	42048455	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	19061070	42048455	207202166	4	300											
IL23R	149233	broad.mit.edu	37	chr1	67724439	67724439	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aataataatgaaattacttcCttaacacttaaaccaccagt	2	9	0	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:67724439C>G	ENST00000347310.5	+	11	1689	c.1518C>G	c.(1516-1518)tcC>tcG	p.S506S	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.S251S|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	506					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AAATTACTTCCTTAACACTTA	0.353													False	0	False	1:67724439	0	G	67724439	C	G	67724439	2	3	4	1	0	0	0	0	0	0	0	1	7726	668	24	5		5	IL23R	1	67724439	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	25675984	67724439	181526182	5	301											
PIAS3	10401	broad.mit.edu	37	chr1	145578668	145578668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagcggtttgaggaagcGcactttacctttgccctcac	10	13	1	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:145578668G>A	ENST00000393045.2	+	3	564	c.474G>A	c.(472-474)gcG>gcA	p.A158A	PIAS3_ENST00000369299.3_Silent_p.A149A|PIAS3_ENST00000369298.1_Silent_p.A123A	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	158	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGAGGAAGCGCACTTTACCT	0.537													False	0	False	1:145578668	0	A	145578668	G	A	145578668	2	1	4	1	0	0	0	0	0	0	0	1	11946	1074	38	1		1	PIAS3	1	145578668	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	77854229	145578668	103671953	6	302											
F5	2153	broad.mit.edu	37	chr1	169529961	169529961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctggagccacagcgtcGtccatcttctccgcagggaa	12	15	2	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:169529961G>A	ENST00000367796.3	-	4	618	c.417C>T	c.(415-417)gaC>gaT	p.D139D	F5_ENST00000546081.1_Silent_p.D2D|F5_ENST00000367797.3_Silent_p.D139D			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	139	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCACAGCGTCGTCCATCTTCT	0.517													False	0	False	1:169529961	0	A	169529961	G	A	169529961	2	1	4	1	0	0	0	0	0	0	0	1	5381	1136	40	1		1	F5	1	169529961	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	23951293	169529961	79720660	7	303											
SELL	6402	broad.mit.edu	37	chr1	169677858	169677858	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatctgtgtaattgtctcGgcagaatcttctagcccttt	7	9	4	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:169677858G>A	ENST00000236147.4	-	3	371	c.211C>T	c.(211-213)Cga>Tga	p.R71*	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	58	C-type lectin.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TAATTGTCTCGGCAGAATCTT	0.433													False	0	False	1:169677858	0	A	169677858	G	A	169677858	4	1	4	1	0	0	0	0	0	1	0	0	14097	1124	39	1	974	1	SELL	1	169677858	Nonsense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	147897	169677858	79572763	8	304											
TNR	7143	broad.mit.edu	37	chr1	175331865	175331865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgctgttgaggctgatttCgtattcggtagctgggttca	13	8	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:175331865C>T	ENST00000367674.2	-	14	3496	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_ENST00000263525.2_Missense_Mutation_p.E930K			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E930K(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTGATTTCGTATTCGGTA	0.532													False	0	True	1:175331865	0	T	175331865	C	T	175331865	3	4	4	1	0	0	0	0	1	0	0	0	16420	893	31	1	1328	1	TNR	1	175331865	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	5654007	175331865	73918756	9	305											
CD55	1604	broad.mit.edu	37	chr1	207532957	207532957	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgggcttgctgacttagcCaaagaagagttaagaagaaa	11	6	0	5	rs56147367		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:207532957C>A	ENST00000314754.8	+	11	1331	c.1266C>A	c.(1264-1266)gcC>gcA	p.A422A	CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367062.4_3'UTR|CD55_ENST00000367064.3_3'UTR|CD55_ENST00000391921.4_3'UTR|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367065.5_Silent_p.A421A|CD55_ENST00000391920.4_3'UTR	NM_001114752.1	NP_001108224.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	0					complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	CTGACTTAGCCAAAGAAGAGT	0.348													False	0	True	1:207532957	0	A	207532957	C	A	207532957	2	1	4	1	0	0	0	0	0	0	0	1	3047	581	21	3		3	CD55	1	207532957	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	32201092	207532957	41717664	10	306											
OBSCN	84033	broad.mit.edu	37	chr1	228525760	228525760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcagcccacccactgcGctggcttgtccgcaccaagc	11	17	0	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:228525760G>A	ENST00000570156.2	+	78	19861	c.19787G>A	c.(19786-19788)cGc>cAc	p.R6596H	OBSCN_ENST00000366707.4_Missense_Mutation_p.R3273H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5639H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2758H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5639H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5639	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCCACTGCGCTGGCTTGTC	0.642													False	0	False	1:228525760	0	A	228525760	G	A	228525760	3	1	4	1	0	0	0	0	1	0	0	0	10880	1087	38	1	17178	1	OBSCN	1	228525760	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	20992803	228525760	20724861	11	307											
OR2M4	26245	broad.mit.edu	37	chr1	248402643	248402643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacaccatcctcatgaatcCgaaactctgtgtcttcatga	6	12	4	2	rs144805988		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:248402643C>T	ENST00000306687.1	+	1	413	c.413C>T	c.(412-414)cCg>cTg	p.P138L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P138L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCATGAATCCGAAACTCTGT	0.483													False	0	False	1:248402643	0	T	248402643	C	T	248402643	3	4	4	1	0	0	0	0	1	0	0	0	11080	652	23	1	415	1	OR2M4	1	248402643	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	19876883	248402643	847978	12	308											
ADCY3	109	broad.mit.edu	37	chr2	25051001	25051001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccctgccgttgcattgctGggtcccgtgtagtactggag	13	11	0	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:25051001G>A	ENST00000260600.5	-	13	3053	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	734					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TTGCATTGCTGGGTCCCGTGT	0.602											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	2:25051001	0	A	25051001	G	A	25051001	2	1	4	1	0	0	0	0	0	0	0	1	295	1335	47	2		2	ADCY3	2	25051001	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		25051001	218148372	13	309											
ALK	238	broad.mit.edu	37	chr2	29443582	29443582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcactcaccgggcgagggCgggtctctcggaggaaggac	16	12	3	0	rs143790259		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:29443582C>T	ENST00000389048.3	-	23	4541	c.3635G>A	c.(3634-3636)cGc>cAc	p.R1212H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1212	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R1212H(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CGGGCGAGGGCGGGTCTCTCG	0.602			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				False	0	True	2:29443582	0	T	29443582	C	T	29443582	3	4	4	1	0	0	0	0	1	0	0	0	525	768	27	1	1255	1	ALK	2	29443582	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	4392581	29443582	213755791	14	310											
RTN4	57142	broad.mit.edu	37	chr2	55252908	55252908	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catattctatcattgactcaAatgaagtctcagtgagactt	6	8	4	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:55252908A>C	ENST00000337526.6	-	3	2570	c.2327T>G	c.(2326-2328)tTt>tGt	p.F776C	RTN4_ENST00000357376.3_Missense_Mutation_p.F570C|RTN4_ENST00000354474.6_Missense_Mutation_p.F544C|RTN4_ENST00000405240.1_Missense_Mutation_p.F570C|RTN4_ENST00000404909.1_Missense_Mutation_p.F570C|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.F570C	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	776					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CATTGACTCAAATGAAGTCTC	0.363													False	0	True	2:55252908	0	C	55252908	A	C	55252908	3	2	4	1	0	0	0	0	1	0	0	0	13807	14	1	4	1317	4	RTN4	2	55252908	Missense_Mutation	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	25809326	55252908	187946465	15	311											
FASTKD1	79675	broad.mit.edu	37	chr2	170428438	170428438	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ataattagtggttcacaactGatgggtcgaaattgaaacac	9	6	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:170428438G>C	ENST00000453153.2	-	2	448	c.102C>G	c.(100-102)atC>atG	p.I34M	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I34M	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	34					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GTTCACAACTGATGGGTCGAA	0.358													False	0	False	2:170428438	0	C	170428438	G	C	170428438	3	2	4	1	0	0	0	0	1	0	0	0	5725	1280	45	5	2497	5	FASTKD1	2	170428438	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	115175530	170428438	72770935	16	312											
TTN	7273	broad.mit.edu	37	chr2	179611913	179611913	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggggtgtggagtatcTctctagagtctctcctggag	14	9	3	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:179611913T>G	ENST00000360870.5	-	46	15436	c.15214A>C	c.(15214-15216)Aga>Cga	p.R5072R	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1179	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGAGTATCTCTCTAGAGTC	0.532													False	0	True	2:179611913	0	G	179611913	T	G	179611913	2	3	4	1	0	0	0	0	0	0	0	1	16819	1559	54	4		4	TTN	2	179611913	Silent	SNP	T	TCGA-2J-AAB8-01A-12D-A40W-08	9183475	179611913	63587460	17	313											
COL3A1	1281	broad.mit.edu	37	chr2	189850473	189850473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggttctcctggcccccctgGaatctgtgaatcatgcccta	9	14	3	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:189850473G>A	ENST00000304636.3	+	4	586	c.416G>A	c.(415-417)gGa>gAa	p.G139E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G139E	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	139					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCCCCCCTGGAATCTGTGAA	0.448													False	0	False	2:189850473	0	A	189850473	G	A	189850473	3	1	4	1	0	0	0	0	1	0	0	0	3711	1174	41	2	430	2	COL3A1	2	189850473	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	10238560	189850473	53348900	18	314											
MARS2	92935	broad.mit.edu	37	chr2	198571112	198571112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttcctgttaggggccgGcatgagcccgccacagcgca	13	15	0	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:198571112G>A	ENST00000282276.6	+	1	1026	c.983G>A	c.(982-984)gGc>gAc	p.G328D	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	328					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.G328D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTAGGGGCCGGCATGAGCCCG	0.542													False	0	False	2:198571112	0	A	198571112	G	A	198571112	3	1	4	1	0	0	0	0	1	0	0	0	9384	1203	42	2	985	2	MARS2	2	198571112	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	8720639	198571112	44628261	19	315											
IKZF2	22807	broad.mit.edu	37	chr2	213914507	213914507	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagctacagaaaggacatttGaacggcttctctccagagtg	10	9	1	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:213914507G>C	ENST00000457361.1	-	5	672	c.504C>G	c.(502-504)ttC>ttG	p.F168L	IKZF2_ENST00000451136.2_Missense_Mutation_p.F142L|IKZF2_ENST00000434687.1_Missense_Mutation_p.F168L|IKZF2_ENST00000413091.3_Missense_Mutation_p.F168L|IKZF2_ENST00000342002.2_Missense_Mutation_p.F174L|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Missense_Mutation_p.F142L|IKZF2_ENST00000374319.4_Missense_Mutation_p.F142L	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AAGGACATTTGAACGGCTTCT	0.493													False	0	True	2:213914507	0	C	213914507	G	C	213914507	3	2	4	1	0	0	0	0	1	0	0	0	7665	1281	45	5	1092	5	IKZF2	2	213914507	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	15343395	213914507	29284866	20	316											
ATP2B2	491	broad.mit.edu	37	chr3	10443850	10443850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctggccagcccggaccaCggtaaatttctgttcctgct	9	15	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:10443850C>T	ENST00000397077.1	-	6	1155	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	ATP2B2_ENST00000383800.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V194M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V194M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	194					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCCCGGACCACGGTAAATTTC	0.567													False	0	False	3:10443850	0	T	10443850	C	T	10443850	3	4	4	1	0	0	0	0	1	0	0	0	1144	536	19	1	3231	1	ATP2B2	3	10443850	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		10443850	187578580	21	317											
WNT7A	7476	broad.mit.edu	37	chr3	13860914	13860914	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccagcttcatgttctcctCcaggatctgcaggggagggc	12	12	3	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:13860914C>A	ENST00000285018.4	-	4	881	c.577G>T	c.(577-579)Gag>Tag	p.E193*		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	193					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ATGTTCTCCTCCAGGATCTGC	0.657													False	0	False	3:13860914	0	A	13860914	C	A	13860914	4	1	4	1	0	0	0	0	0	1	0	0	17478	864	30	3	476	3	WNT7A	3	13860914	Nonsense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	3417064	13860914	184161516	22	318											
MST1R	4486	broad.mit.edu	37	chr3	49936064	49936064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgccatgcccttaggcAacgcccacaggtcaggaagt	11	12	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:49936064A>G	ENST00000296474.3	-	4	1633	c.1606T>C	c.(1606-1608)Tgc>Cgc	p.C536R	MST1R_ENST00000344206.4_Missense_Mutation_p.C536R	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	536					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCCCTTAGGCAACGCCCACAG	0.612													False	0	False	3:49936064	0	G	49936064	A	G	49936064	3	3	4	1	0	0	0	0	1	0	0	0	9958	130	5	4	2664	4	MST1R	3	49936064	Missense_Mutation	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	36075150	49936064	148086366	23	319											
CD38	952	broad.mit.edu	37	chr4	15835859	15835859	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaaataaactatcaatcttgCccagactggagaaaggactg	9	8	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:15835859C>G	ENST00000226279.3	+	4	656	c.519C>G	c.(517-519)tgC>tgG	p.C173W		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule						B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						ATCAATCTTGCCCAGACTGGA	0.398													False	0	True	4:15835859	0	G	15835859	C	G	15835859	3	3	4	1	0	0	0	0	1	0	0	0	3032	747	26	5	533	5	CD38	4	15835859	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		15835859	175318417	24	320											
LIN54	132660	broad.mit.edu	37	chr4	83891489	83891489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttttttaccttatttggCgatttcaaaggtgagatggc	9	5	1	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:83891489C>T	ENST00000340417.3	-	4	1319	c.942G>A	c.(940-942)tcG>tcA	p.S314S	LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000442461.2_Silent_p.S93S|LIN54_ENST00000510557.1_Silent_p.S93S|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000505397.1_Silent_p.S314S|LIN54_ENST00000446851.2_Silent_p.S93S	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	314					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCTTATTTGGCGATTTCAAAG	0.308													False	0	False	4:83891489	0	T	83891489	C	T	83891489	2	4	4	1	0	0	0	0	0	0	0	1	8862	755	27	1		1	LIN54	4	83891489	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	68055630	83891489	107262787	25	321											
SPARCL1	8404	broad.mit.edu	37	chr4	88412840	88412840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagttctctgctttcttGgcctttagaataacaagagc	9	8	2	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:88412840G>A	ENST00000418378.1	-	6	1792	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	SPARCL1_ENST00000503414.1_Silent_p.A282A|SPARCL1_ENST00000282470.6_Silent_p.A407A	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	407					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTGCTTTCTTGGCCTTTAGAA	0.393													False	0	False	4:88412840	0	A	88412840	G	A	88412840	2	1	4	1	0	0	0	0	0	0	0	1	15078	1335	47	2		2	SPARCL1	4	88412840	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	4521351	88412840	102741436	26	322											
STOX2	56977	broad.mit.edu	37	chr4	184931519	184931519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcttctctagggacgccgGaagaccttgctgaaggctgc	12	12	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:184931519G>A	ENST00000308497.4	+	3	2963	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	STOX2_ENST00000438269.1_Missense_Mutation_p.E510K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	510					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AGGGACGCCGGAAGACCTTGC	0.547													False	0	False	4:184931519	0	A	184931519	G	A	184931519	3	1	4	1	0	0	0	0	1	0	0	0	15402	1175	41	2	1538	2	STOX2	4	184931519	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	96518679	184931519	6222757	27	323											
STOX2	56977	broad.mit.edu	37	chr4	184932370	184932370	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacaagaacacagaggaggaGaaaaatagagaggacgtagg	14	4	0	4			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:184932370G>A	ENST00000308497.4	+	3	3814	c.2379G>A	c.(2377-2379)gaG>gaA	p.E793E	STOX2_ENST00000438269.1_Silent_p.E793E	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	793					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAGAGGAGGAGAAAAATAGAG	0.498													False	0	True	4:184932370	0	A	184932370	G	A	184932370	2	1	4	1	0	0	0	0	0	0	0	1	15402	933	33	2		2	STOX2	4	184932370	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	851	184932370	6221906	28	324											
THBS4	7060	broad.mit.edu	37	chr5	79366517	79366517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagatgcagacagagatGgcattggcgacgcttgtgac	14	7	0	5			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:79366517G>A	ENST00000350881.2	+	12	1694	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G411S	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	502					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGACAGAGATGGCATTGGCGA	0.517													False	0	False	5:79366517	0	A	79366517	G	A	79366517	3	1	4	1	0	0	0	0	1	0	0	0	15938	1348	47	2	1550	2	THBS4	5	79366517	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		79366517	101548743	29	325											
HAPLN1	1404	broad.mit.edu	37	chr5	82940318	82940318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgggatattgcacagaGccatcactgagccagccggc	13	11	1	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:82940318G>A	ENST00000274341.4	-	4	1489	c.639C>T	c.(637-639)ggC>ggT	p.G213G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	213	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ATTGCACAGAGCCATCACTGA	0.587													False	0	False	5:82940318	0	A	82940318	G	A	82940318	2	1	4	1	0	0	0	0	0	0	0	1	7001	958	34	2		2	HAPLN1	5	82940318	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	3573801	82940318	97974942	30	326											
MEGF10	84466	broad.mit.edu	37	chr5	126771182	126771182	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagtgactgctctcaacGtaagtcttgtttgagaacaa	10	8	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:126771182G>A	ENST00000274473.6	+	17	2371		c.e17+1		MEGF10_ENST00000503335.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.?(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCTCAACGTAAGTCTTGT	0.373													False	0	False	5:126771182	0	A	126771182	G	A	126771182	5	1	4	1	0	0	0	0	0	0	1	0	9527	1159	40	1	2163	1	MEGF10	5	126771182	Splice_Site	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	43830864	126771182	54144078	31	327											
PCDHB7	0	broad.mit.edu	37	chr5	140554386	140554386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcgctcggccaccgccaCgctgcacgtgctcctggtgg	13	18	0	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:140554386C>T	ENST00000231137.3	+	1	2144	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		657	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T657M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCGCCACGCTGCACGTG	0.706													False	0	False	5:140554386	0	T	140554386	C	T	140554386	3	4	4	1	0	0	0	0	1	0	0	0	11615	536	19	1	1972	1	PCDHB7	5	140554386	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	13783204	140554386	40360874	32	328											
GMDS	2762	broad.mit.edu	37	chr6	2116094	2116094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggtactgtcagtgagatCgccatagtgcaacttcatgt	11	9	2	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:2116094C>T	ENST00000380815.4	-	4	525	c.256G>A	c.(256-258)Gat>Aat	p.D86N	GMDS_ENST00000530927.1_Missense_Mutation_p.D56N	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	86					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCAGTGAGATCGCCATAGTGC	0.383													False	0	False	6:2116094	0	T	2116094	C	T	2116094	3	4	4	1	0	0	0	0	1	0	0	0	6531	884	31	1	894	1	GMDS	6	2116094	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		2116094	168998973	33	329											
MDN1	23195	broad.mit.edu	37	chr6	90421896	90421896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatccagtaagtattcacttCgactgcattgaatttcaggt	8	8	2	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:90421896C>T	ENST00000369393.3	-	49	7625	c.7510G>A	c.(7510-7512)Gaa>Aaa	p.E2504K	MDN1_ENST00000428876.1_Missense_Mutation_p.E2504K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2504					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.E2504K(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTATTCACTTCGACTGCATTG	0.408													False	0	False	6:90421896	0	T	90421896	C	T	90421896	3	4	4	1	0	0	0	0	1	0	0	0	9482	893	31	1	9496	1	MDN1	6	90421896	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	88305802	90421896	80693171	34	330											
SDK1	221935	broad.mit.edu	37	chr7	4259748	4259748	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggcggctgcaggggtgagCaaggtggtgaccgtggaagt	20	7	0	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:4259748C>G	ENST00000404826.2	+	39	5686	c.5547C>G	c.(5545-5547)agC>agG	p.S1849R	SDK1_ENST00000389531.3_Missense_Mutation_p.S1829R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1849	Fibronectin type-III 12.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGGGGTGAGCAAGGTGGTGA	0.572													False	0	False	7:4259748	0	G	4259748	C	G	4259748	3	3	4	1	0	0	0	0	1	0	0	0	14049	709	25	5	5701	5	SDK1	7	4259748	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		4259748	154878915	35	331											
MUC17	140453	broad.mit.edu	37	chr7	100692136	100692136	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccgcctcagggccaccggaGactatctctgcccaaatgga	10	16	2	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:100692136G>A	ENST00000306151.4	+	5	12610	c.12546G>A	c.(12544-12546)gaG>gaA	p.E4182E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4182	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCACCGGAGACTATCTCTG	0.522													False	0	False	7:100692136	0	A	100692136	G	A	100692136	2	1	4	1	0	0	0	0	0	0	0	1	10041	933	33	2		2	MUC17	7	100692136	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	96432388	100692136	58446527	36	332											
TRPV6	55503	broad.mit.edu	37	chr7	142572369	142572369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctggcactgatgagccGcatcaccatggtcaccagca	10	16	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:142572369G>A	ENST00000359396.3	-	11	1572	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	443					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGATGAGCCGCATCACCATG	0.607													False	0	False	7:142572369	0	A	142572369	G	A	142572369	3	1	4	1	0	0	0	0	1	0	0	0	16683	1086	38	1	870	1	TRPV6	7	142572369	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	41880233	142572369	16566294	37	333											
KRBA1	84626	broad.mit.edu	37	chr7	149431136	149431136	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgagatggggggcgcattgAtggcattcctcttctccaca	12	12	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:149431136A>G	ENST00000255992.10	+	18	3489	c.3090A>G	c.(3088-3090)tgA>tgG	p.*1030W	KRBA1_ENST00000319551.8_Nonstop_Mutation_p.*970W|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Nonstop_Mutation_p.*970W	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	0										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCGCATTGATGGCATTCCT	0.662													False	0	False	7:149431136	0	G	149431136	A	G	149431136	4	3	4	1	0	0	0	0	0	0	0	0	8489	346	12	4	3154	4	KRBA1	7	149431136	Nonstop_Mutation	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	6858767	149431136	9707527	38	334											
SLC4A2	6522	broad.mit.edu	37	chr7	150772809	150772810	+	Frame_Shift_Ins	INS	-	-	A													ccagttctatgagcggctgcINSatctgctgctcatgccgccc					rs139739553	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:150772809_150772810insA	ENST00000461735.1	+	20	3923_3924	c.3376_3377insA	c.(3376-3378)catfs	p.H1126fs	RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Frame_Shift_Ins_p.H1140fs|SLC4A2_ENST00000310317.5_Frame_Shift_Ins_p.H1058fs|SLC4A2_ENST00000485713.1_Frame_Shift_Ins_p.H1140fs|SLC4A2_ENST00000392826.2_Frame_Shift_Ins_p.H1131fs	NM_001199694.1	NP_001186623.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1140	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAGCGGCTGCATCTGCTGCTC	0.599													False	1	False	7:150772809	0	A	150772810	-	A	150772809	7	5	4	1	0	1	1	0	0	0	0	0	14734	710	25	0	3496	0	SLC4A2	7	150772809	Frame_Shift_Ins	INS	-	TCGA-2J-AAB8-01A-12D-A40W-08	1341673	150772809	8365854	39	335											
UBE3C	9690	broad.mit.edu	37	chr7	156974879	156974879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttttcatttcatcattcCggcgcttgcagatgcgcaga	9	10	3	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:156974879C>T	ENST00000348165.5	+	8	1208	c.848C>T	c.(847-849)cCg>cTg	p.P283L	UBE3C_ENST00000389103.4_Missense_Mutation_p.P240L	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	283					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTCATCATTCCGGCGCTTGCA	0.438													False	0	False	7:156974879	0	T	156974879	C	T	156974879	3	4	4	1	0	0	0	0	1	0	0	0	16965	652	23	1	878	1	UBE3C	7	156974879	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	6202070	156974879	2163784	40	336											
MFHAS1	9258	broad.mit.edu	37	chr8	8748773	8748773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgtcgaaggttcttgtccGaaacgccatagtaggctgcg	13	11	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:8748773G>A	ENST00000276282.6	-	1	2382	c.1796C>T	c.(1795-1797)tCg>tTg	p.S599L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	599	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GTTCTTGTCCGAAACGCCATA	0.642													False	0	True	8:8748773	0	A	8748773	G	A	8748773	3	1	4	1	0	0	0	0	1	0	0	0	9588	1059	37	1	1374	1	MFHAS1	8	8748773	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		8748773	137615249	41	337											
DDHD2	23259	broad.mit.edu	37	chr8	38107250	38107250	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatgtacagaccgagatcttCaggaaataggaattccttta	8	7	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:38107250C>G	ENST00000397166.2	+	11	1798	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E	DDHD2_ENST00000517385.1_Missense_Mutation_p.Q44E|DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.Q425E	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	425	SAM.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	p.Q425K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CCGAGATCTTCAGGAAATAGG	0.368													False	0	False	8:38107250	0	G	38107250	C	G	38107250	3	3	4	1	0	0	0	0	1	0	0	0	4352	827	29	5	1373	5	DDHD2	8	38107250	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	29358477	38107250	108256772	42	338											
ZFHX4	79776	broad.mit.edu	37	chr8	77763870	77763870	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacttgcataagctgaaaaaAgttttgcaggaagcctccag	9	9	0	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:77763870A>T	ENST00000521891.2	+	10	5161	c.4713A>T	c.(4711-4713)aaA>aaT	p.K1571N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1526N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1545N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1526N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1526						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTGAAAAAAGTTTTGCAGG	0.413										HNSCC(33;0.089)			False	0	True	8:77763870	0	T	77763870	A	T	77763870	3	4	4	1	0	0	0	0	1	0	0	0	17718	69	3	5	4747	5	ZFHX4	8	77763870	Missense_Mutation	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	39656620	77763870	68600152	43	339											
ZFPM2	23414	broad.mit.edu	37	chr8	106431448	106431448	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacatcatctccaaaggagaCtttccattggaggaaagctt	9	9	2	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:106431448C>G	ENST00000407775.2	+	2	367	c.117C>G	c.(115-117)gaC>gaG	p.D39E	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	39					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCAAAGGAGACTTTCCATTGG	0.423													False	0	True	8:106431448	0	G	106431448	C	G	106431448	3	3	4	1	0	0	0	0	1	0	0	0	17741	564	20	5	123	5	ZFPM2	8	106431448	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	28667578	106431448	39932574	44	340											
CSMD3	114788	broad.mit.edu	37	chr8	113326150	113326150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacctatatatcttatccGgaagccttttttgttattgc	5	9	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:113326150G>A	ENST00000297405.5	-	49	7925	c.7681C>T	c.(7681-7683)Cgg>Tgg	p.R2561W	CSMD3_ENST00000455883.2_Missense_Mutation_p.R2457W|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2521W|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2491W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2561	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCTTATCCGGAAGCCTTTT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	False	8:113326150	0	A	113326150	G	A	113326150	3	1	4	1	0	0	0	0	1	0	0	0	3971	1115	39	1	3534	1	CSMD3	8	113326150	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	6894702	113326150	33037872	45	341											
GSDMD	79792	broad.mit.edu	37	chr8	144645015	144645015	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agccgcaggcccagggccgcAtgtgtgcactctacgcctcc	12	17	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:144645015A>T	ENST00000526406.1	+	14	2279	c.1396A>T	c.(1396-1398)Atg>Ttg	p.M466L	GSDMD_ENST00000533063.1_Missense_Mutation_p.M514L|GSDMD_ENST00000262580.4_Missense_Mutation_p.M466L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	466				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).						breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CCAGGGCCGCATGTGTGCACT	0.687													False	0	True	8:144645015	0	T	144645015	A	T	144645015	3	4	4	1	0	0	0	0	1	0	0	0	6866	217	8	5	1434	5	GSDMD	8	144645015	Missense_Mutation	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	31318865	144645015	1719007	46	342											
SPTLC1	10558	broad.mit.edu	37	chr9	94794825	94794825	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctctgtttgttccaccgtGaccacaacccgaatgctgag	8	14	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr9:94794825G>A	ENST00000262554.2	-	15	1349	c.1344C>T	c.(1342-1344)gtC>gtT	p.V448V		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	448						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GTTCCACCGTGACCACAACCC	0.567													False	0	False	9:94794825	0	A	94794825	G	A	94794825	2	1	4	1	0	0	0	0	0	0	0	1	15205	1277	45	2		2	SPTLC1	9	94794825	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		94794825	46418606	47	343											
SEC16A	9919	broad.mit.edu	37	chr9	139360714	139360714	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgaggcgccgccgcgtAcctggtgcgagtgggagctg	18	11	1	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr9:139360714A>G	ENST00000313050.7	-	5	4202		c.e5+1		SEC16A_ENST00000431893.2_Splice_Site|SEC16A_ENST00000371706.3_Splice_Site|SEC16A_ENST00000290037.6_Splice_Site	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCGCCGCGTACCTGGTGCGA	0.622													False	0	False	9:139360714	0	G	139360714	A	G	139360714	5	3	4	1	0	0	0	0	0	0	1	0	14067	405	14	4	3047	4	SEC16A	9	139360714	Splice_Site	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	44565889	139360714	1852717	48	344											
OGDHL	55753	broad.mit.edu	37	chr10	50946068	50946068	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgtggagcagttgaccacGatccagttgcagtcatagag	14	8	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr10:50946068G>A	ENST00000374103.4	-	19	2527	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Silent_p.I757I|OGDHL_ENST00000432695.1_Silent_p.I605I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	814					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGTTGACCACGATCCAGTTGC	0.622													False	0	False	10:50946068	0	A	50946068	G	A	50946068	2	1	4	1	0	0	0	0	0	0	0	1	10908	1048	37	1		1	OGDHL	10	50946068	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		50946068	84588679	49	345											
HMX2	3167	broad.mit.edu	37	chr10	124908058	124908064	+	Frame_Shift_Del	DEL	AGCCGGA	AGCCGGA	-													cgtgtcctcggaggaggaggAgccggacgacggctggaagg							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	AGCCGGA	AGCCGGA	-	-	AGCCGGA	AGCCGGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr10:124908058_124908064delAGCCGGA	ENST00000339992.3	+	1	421_427	c.164_170delAGCCGGA	c.(163-171)gagccggacfs	p.EPD55fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	55					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		GAGGAGGAGGAGCCGGACGACGGCTGG	0.71													False	1	False	10:124908058	0	-	124908064	AGCCGGA	-	124908058	7	5	4	1	0	1	0	1	0	0	0	0	7294	304	11	0	166	0	HMX2	10	124908058	Frame_Shift_Del	DEL	AGCCGGA	TCGA-2J-AAB8-01A-12D-A40W-08	73961990	124908058	10626689	50	346											
OR52M1	119772	broad.mit.edu	37	chr11	4566499	4566499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggctggagtccctacacGtctggctctccatccccttt	9	16	2	0	rs138278883		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:4566499G>A	ENST00000360213.1	+	1	79	c.79G>A	c.(79-81)Gtc>Atc	p.V27I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCCCTACACGTCTGGCTCTC	0.542													False	0	False	11:4566499	0	A	4566499	G	A	4566499	3	1	4	1	0	0	0	0	1	0	0	0	11194	1145	40	1	81	1	OR52M1	11	4566499	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		4566499	130440017	51	347											
OR52B6	340980	broad.mit.edu	37	chr11	5602663	5602667	+	Frame_Shift_Del	DEL	ACTAT	ACTAT	-													ctttctccttgagcacctgcActattgccagatcaatatca							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	ACTAT	ACTAT	-	-	ACTAT	ACTAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:5602663_5602667delACTAT	ENST00000345043.2	+	1	557_561	c.557_561delACTAT	c.(556-561)cactatfs	p.HY186fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCACCTGCACTATTGCCAGATCA	0.473													False	1	False	11:5602663	0	-	5602667	ACTAT	-	5602663	7	5	4	1	0	1	0	1	0	0	0	0	11181	159	6	0	559	0	OR52B6	11	5602663	Frame_Shift_Del	DEL	ACTAT	TCGA-2J-AAB8-01A-12D-A40W-08	1036164	5602663	129403853	52	348											
KCNA4	3739	broad.mit.edu	37	chr11	30033513	30033513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggcctcttcaggcggcctCctgattgataataatacaag	9	11	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:30033513C>T	ENST00000328224.6	-	2	1946	c.713G>A	c.(712-714)gGa>gAa	p.G238E		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	238						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CAGGCGGCCTCCTGATTGATA	0.483													False	0	False	11:30033513	0	T	30033513	C	T	30033513	3	4	4	1	0	0	0	0	1	0	0	0	8055	855	30	2	1252	2	KCNA4	11	30033513	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	24430850	30033513	104973003	53	349											
RAG1	5896	broad.mit.edu	37	chr11	36595189	36595189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccttcgacatctctgccGcatctgtgggaattctttta	7	12	3	0	rs4151026		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:36595189G>A	ENST00000299440.5	+	2	447	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	112	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R112L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATCTCTGCCGCATCTGTGGG	0.453									Familial Hemophagocytic Lymphohistiocytosis				False	0	False	11:36595189	0	A	36595189	G	A	36595189	3	1	4	1	0	0	0	0	1	0	0	0	13082	1087	38	1	337	1	RAG1	11	36595189	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	6561676	36595189	98411327	54	350											
HSPA8	3312	broad.mit.edu	37	chr11	122929855	122929855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtattacgcttgatgaggAcagtcatgactccaccagca	10	10	1	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:122929855A>G	ENST00000534624.1	-	6	1511	c.1235T>C	c.(1234-1236)gTc>gCc	p.V412A	HSPA8_ENST00000533540.1_Missense_Mutation_p.V266A|HSPA8_ENST00000526110.1_Missense_Mutation_p.V393A|HSPA8_ENST00000534319.1_Missense_Mutation_p.V176A|HSPA8_ENST00000532636.1_Missense_Mutation_p.V412A|HSPA8_ENST00000227378.3_Missense_Mutation_p.V412A|HSPA8_ENST00000453788.2_Missense_Mutation_p.V412A	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	412					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTTGATGAGGACAGTCATGAC	0.453													False	0	False	11:122929855	0	G	122929855	A	G	122929855	3	3	4	1	0	0	0	0	1	0	0	0	7465	275	10	4	721	4	HSPA8	11	122929855	Missense_Mutation	SNP	A	TCGA-2J-AAB8-01A-12D-A40W-08	86334666	122929855	12076661	55	351											
KCNA1	3736	broad.mit.edu	37	chr12	5021099	5021099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctccatcgtcatcttttgCctggagacgctccccgagct	8	15	3	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:5021099C>T	ENST00000382545.3	+	2	1662	c.555C>T	c.(553-555)tgC>tgT	p.C185C	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	185					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCATCTTTTGCCTGGAGACGC	0.582													False	0	False	12:5021099	0	T	5021099	C	T	5021099	2	4	4	1	0	0	0	0	0	0	0	1	8051	747	26	2		2	KCNA1	12	5021099	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		5021099	128830796	56	352											
GSG1	83445	broad.mit.edu	37	chr12	13240148	13240148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggacccaagttgacagtCgcttggaagacttgtgaata	11	8	1	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:13240148C>T	ENST00000396302.3	-	5	898	c.700G>A	c.(700-702)Gac>Aac	p.D234N	GSG1_ENST00000324458.8_Silent_p.A228A|GSG1_ENST00000396310.2_Silent_p.A161A|GSG1_ENST00000432710.2_Silent_p.A205A|GSG1_ENST00000537302.1_Silent_p.A164A|GSG1_ENST00000337630.6_Silent_p.A192A|GSG1_ENST00000351606.6_Missense_Mutation_p.D270N|GSG1_ENST00000457134.2_Silent_p.A141A	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AGTTGACAGTCGCTTGGAAGA	0.507													False	0	False	12:13240148	0	T	13240148	C	T	13240148	3	4	4	1	0	0	0	0	1	0	0	0	6867	884	31	1	412	1	GSG1	12	13240148	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	8219049	13240148	120611747	57	353											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	4	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	12158137	25398285	108453610	58	354											
CSRNP2	81566	broad.mit.edu	37	chr12	51467710	51467710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagagtgtatagctccGtacagagttatggcgctggg	13	9	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:51467710G>A	ENST00000228515.1	-	3	604	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	103					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GTATAGCTCCGTACAGAGTTA	0.537													False	0	False	12:51467710	0	A	51467710	G	A	51467710	3	1	4	1	0	0	0	0	1	0	0	0	3989	1144	40	1	1336	1	CSRNP2	12	51467710	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	26069425	51467710	82384185	59	355											
HNRNPA1	3178	broad.mit.edu	37	chr12	54675182	54675182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctagtctcctaaagagCccgaacagctgaggaagctc	9	13	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:54675182C>T	ENST00000546500.1	+	2	643	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P10S|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P10S|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.P10S			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	10	Globular A domain.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCCTAAAGAGCCCGAACAGCT	0.488													False	0	True	12:54675182	0	T	54675182	C	T	54675182	3	4	4	1	0	0	0	0	1	0	0	0	7304	739	26	2	34	2	HNRNPA1	12	54675182	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	3207472	54675182	79176713	60	356											
ITGA7	3679	broad.mit.edu	37	chr12	56086734	56086734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtggctccagctcccgcCgcctcctatccctactgtcc	8	20	0	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:56086734C>T	ENST00000257880.7	-	22	3089	c.2870G>A	c.(2869-2871)cGg>cAg	p.R957Q	ITGA7_ENST00000553804.1_Missense_Mutation_p.R917Q|ITGA7_ENST00000452168.2_Missense_Mutation_p.R820Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R913Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R913Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R907Q|ITGA7_ENST00000555728.1_Missense_Mutation_p.R957Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R917Q			Q13683	ITA7_HUMAN	integrin, alpha 7	957	Poly-Arg.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGCTCCCGCCGCCTCCTATC	0.597													False	0	False	12:56086734	0	T	56086734	C	T	56086734	3	4	4	1	0	0	0	0	1	0	0	0	7931	652	23	1	695	1	ITGA7	12	56086734	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	1411552	56086734	77765161	61	357											
GPR133	283383	broad.mit.edu	37	chr12	131471825	131471825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gttatgagaacggtgctttcGatgagttcatcatctgggag	13	6	3	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:131471825G>T	ENST00000261654.5	+	6	1235	c.676G>T	c.(676-678)Gat>Tat	p.D226Y	GPR133_ENST00000535015.1_Missense_Mutation_p.D258Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	226					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CGGTGCTTTCGATGAGTTCAT	0.542													False	0	False	12:131471825	0	T	131471825	G	T	131471825	3	4	4	1	0	0	0	0	1	0	0	0	6689	1058	37	3	698	3	GPR133	12	131471825	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	75385091	131471825	2380070	62	358											
LATS2	26524	broad.mit.edu	37	chr13	21562295	21562295	+	Missense_Mutation	SNP	G	G	T													ggggcccgcacggaggctctGctccatgcctgcgcacaggc							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr13:21562295G>T	ENST00000382592.4	-	4	2029	c.1624C>A	c.(1624-1626)Cag>Aag	p.Q542K	LATS2_ENST00000542899.1_Missense_Mutation_p.Q542K	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	542					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGGAGGCTCTGCTCCATGCCT	0.657													False	0	False	13:21562295	0	T	21562295	G	T	21562295	3	4	4	1	0	0	0	0	1	0	0	0	8698	1328	46	3	1662	3	LATS2	13	21562295	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		21562295	93607583	63	359	5	2									
LATS2	26524	broad.mit.edu	37	chr13	21562296	21562296	+	Silent	SNP	C	C	T													gggcccgcacggaggctctgCtccatgcctgcgcacaggct							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr13:21562296C>T	ENST00000382592.4	-	4	2028	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	LATS2_ENST00000542899.1_Silent_p.E541E	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	541					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGAGGCTCTGCTCCATGCCTG	0.657													False	0	False	13:21562296	0	T	21562296	C	T	21562296	2	4	4	1	0	0	0	0	0	0	0	1	8698	796	28	2		2	LATS2	13	21562296	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	1	21562296	93607582	64	360	5	2									
TJP1	7082	broad.mit.edu	37	chr15	30020212	30020212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtcagttccagcgtctcGtggttcactctctattcatt	8	11	5	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:30020212G>A	ENST00000346128.6	-	16	2503	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	TJP1_ENST00000356107.6_Nonsense_Mutation_p.R677*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.R677*|TJP1_ENST00000400011.2_Nonsense_Mutation_p.R681*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	677	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CCAGCGTCTCGTGGTTCACTC	0.393													False	0	False	15:30020212	0	A	30020212	G	A	30020212	4	1	4	1	0	0	0	0	0	1	0	0	16011	1153	40	1	3269	1	TJP1	15	30020212	Nonsense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		30020212	72511180	65	361											
ATP8B4	79895	broad.mit.edu	37	chr15	50223420	50223420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttatggtctctggggtcCgggatttaaaaatgaaccca	11	7	1	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:50223420C>T	ENST00000284509.6	-	16	1679	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	513					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCTGGGGTCCGGGATTTAAA	0.398													False	0	True	15:50223420	0	T	50223420	C	T	50223420	3	4	4	1	0	0	0	0	1	0	0	0	1201	652	23	1	2092	1	ATP8B4	15	50223420	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	20203208	50223420	52307972	66	362											
HCN4	10021	broad.mit.edu	37	chr15	73616169	73616169	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctggacgcggtgcgcGcagtgggccatctcccggtc	16	15	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:73616169G>T	ENST00000261917.3	-	8	3258	c.2265C>A	c.(2263-2265)tgC>tgA	p.C755*		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	755					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGCGGTGCGCGCAGTGGGCCA	0.637													False	0	True	15:73616169	0	T	73616169	G	T	73616169	4	4	4	1	0	0	0	0	0	1	0	0	7046	1079	38	3	1350	3	HCN4	15	73616169	Nonsense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	23392749	73616169	28915223	67	363											
UMOD	7369	broad.mit.edu	37	chr16	20355441	20355441	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgttgaggtcacggatgatGatctcatctgccaggtagag	13	7	3	4			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:20355441G>A	ENST00000396134.2	-	7	1458	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	UMOD_ENST00000570689.1_Silent_p.I412I|UMOD_ENST00000424589.1_Silent_p.I445I|UMOD_ENST00000396138.4_Silent_p.I461I|UMOD_ENST00000302509.4_Silent_p.I412I|UMOD_ENST00000396142.2_Silent_p.I412I	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	412	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACGGATGATGATCTCATCTG	0.537													False	0	True	16:20355441	0	A	20355441	G	A	20355441	2	1	4	1	0	0	0	0	0	0	0	1	17063	1280	45	2		2	UMOD	16	20355441	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		20355441	69999312	68	364											
VWA3A	146177	broad.mit.edu	37	chr16	22161152	22161158	+	Frame_Shift_Del	DEL	ACACGCT	ACACGCT	-													gagctttcagtcatggcaggAcacgctggtggagaccacag							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	ACACGCT	ACACGCT	-	-	ACACGCT	ACACGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:22161152_22161158delACACGCT	ENST00000389398.5	+	29	3125_3131	c.3029_3035delACACGCT	c.(3028-3036)gacacgctgfs	p.DTL1010fs	VWA3A_ENST00000389397.4_Frame_Shift_Del_p.DTL112fs|VWA3A_ENST00000563755.1_Frame_Shift_Del_p.DTL112fs	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1010	VWFA 2.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCATGGCAGGACACGCTGGTGGAGACC	0.546													False	1	False	16:22161152	0	-	22161158	ACACGCT	-	22161152	7	5	4	1	0	1	0	1	0	0	0	0	17324	275	10	0	3143	0	VWA3A	16	22161152	Frame_Shift_Del	DEL	ACACGCT	TCGA-2J-AAB8-01A-12D-A40W-08	1805711	22161152	68193601	69	365											
SRCAP	10847	broad.mit.edu	37	chr16	30723277	30723277	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgcccaatcacagagCcaagcagatgaagaggagga	14	8	1	4			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:30723277C>G	ENST00000262518.4	+	12	1999	c.1614C>G	c.(1612-1614)agC>agG	p.S538R	SRCAP_ENST00000344771.4_Missense_Mutation_p.S538R|SRCAP_ENST00000395059.2_Missense_Mutation_p.S538R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	538	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AATCACAGAGCCAAGCAGATG	0.498													False	0	False	16:30723277	0	G	30723277	C	G	30723277	3	3	4	1	0	0	0	0	1	0	0	0	15217	738	26	5	1652	5	SRCAP	16	30723277	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	8562125	30723277	59631476	70	366											
MARVELD3	91862	broad.mit.edu	37	chr16	71674725	71674725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagagaggctctatgcccGcaagggtctcacctggatgg	14	10	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:71674725G>A	ENST00000299952.4	+	3	1071	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	346	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTCTATGCCCGCAAGGGTCTC	0.587													False	0	True	16:71674725	0	A	71674725	G	A	71674725	3	1	4	1	0	0	0	0	1	0	0	0	9386	1087	38	1	1653	1	MARVELD3	16	71674725	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	40951448	71674725	18680028	71	367											
RPA1	6117	broad.mit.edu	37	chr17	1792037	1792037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgcatgtaccaagcctgCccgactcaggactgcaataa	8	13	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:1792037C>T	ENST00000254719.5	+	14	1553	c.1443C>T	c.(1441-1443)tgC>tgT	p.C481C		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	481					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ACCAAGCCTGCCCGACTCAGG	0.483								Nucleotide excision repair (NER)					False	0	True	17:1792037	0	T	1792037	C	T	1792037	2	4	4	1	0	0	0	0	0	0	0	1	13615	747	26	2		2	RPA1	17	1792037	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		1792037	79403173	72	368											
PITPNM3	83394	broad.mit.edu	37	chr17	6428759	6428759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcatcccaatgaggatgGcattcttcccttcagccatc	8	14	3	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:6428759G>A	ENST00000262483.8	-	3	230	c.143C>T	c.(142-144)gCc>gTc	p.A48V	PITPNM3_ENST00000421306.3_Intron	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3						phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AATGAGGATGGCATTCTTCCC	0.542													False	0	False	17:6428759	0	A	6428759	G	A	6428759	3	1	4	1	0	0	0	0	1	0	0	0	12021	1203	42	2	2853	2	PITPNM3	17	6428759	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	4636722	6428759	74766451	73	369											
DLG4	1742	broad.mit.edu	37	chr17	7099798	7099798	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttccggcctggtaccttctgGtttatactgagcgatgatcg	11	10	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7099798G>C	ENST00000399510.2	-	12	2161	c.1309C>G	c.(1309-1311)Cca>Gca	p.P437A	DLG4_ENST00000302955.6_Missense_Mutation_p.P391A|DLG4_ENST00000399506.2_Missense_Mutation_p.P394A	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	394	SH3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GTACCTTCTGGTTTATACTGA	0.547													False	0	True	17:7099798	0	C	7099798	G	C	7099798	3	2	4	1	0	0	0	0	1	0	0	0	4587	1261	44	5	1038	5	DLG4	17	7099798	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	671039	7099798	74095412	74	370											
TP53	7157	broad.mit.edu	37	chr17	7578433	7578433	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caacctccgtcatgtgctgtGactgcttgtagatggccatg	11	11	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7578433G>T	ENST00000420246.2	-	5	629	c.497C>A	c.(496-498)tCa>tAa	p.S166*	TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S166*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	166	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGTGCTGTGACTGCTTGTA	0.632		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)			False	0	False	17:7578433	0	T	7578433	G	T	7578433	4	4	4	1	0	0	0	0	0	1	0	0	16464	1294	45	3	801	3	TP53	17	7578433	Nonsense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	478635	7578433	73616777	75	371											
DNAH2	146754	broad.mit.edu	37	chr17	7696378	7696378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctacgtgccattcggggGcaaaagcatgatcaccttta	10	10	2	1			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7696378G>A	ENST00000572933.1	+	48	8884	c.7424G>A	c.(7423-7425)gGc>gAc	p.G2475D	DNAH2_ENST00000389173.2_Missense_Mutation_p.G2475D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2475	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G2475D(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATTCGGGGGCAAAAGCATG	0.512													False	0	True	17:7696378	0	A	7696378	G	A	7696378	3	1	4	1	0	0	0	0	1	0	0	0	4632	1203	42	2	7610	2	DNAH2	17	7696378	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	117945	7696378	73498832	76	372											
IGFBP4	3487	broad.mit.edu	37	chr17	38609333	38609333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgccaaaattcgagaccGgagcaccagtgggggcaaga	13	11	0	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:38609333G>A	ENST00000269593.4	+	2	721	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	IGFBP4_ENST00000542955.1_Missense_Mutation_p.R49Q	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	149					DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ATTCGAGACCGGAGCACCAGT	0.602													False	0	False	17:38609333	0	A	38609333	G	A	38609333	3	1	4	1	0	0	0	0	1	0	0	0	7631	1116	39	1	452	1	IGFBP4	17	38609333	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	30912955	38609333	42585877	77	373											
MAPT	4137	broad.mit.edu	37	chr17	44060812	44060812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagagaggccggggagCaaggaggaggtggatgaaga	21	4	0	3			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:44060812C>T	ENST00000344290.5	+	6	964	c.642C>T	c.(640-642)agC>agT	p.S214S	MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000571987.1_Silent_p.S214S|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.S214S|MAPT_ENST00000262410.5_Silent_p.S214S|MAPT_ENST00000431008.3_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	214					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GGCCGGGGAGCAAGGAGGAGG	0.687													False	0	False	17:44060812	0	T	44060812	C	T	44060812	2	4	4	1	0	0	0	0	0	0	0	1	9364	709	25	2		2	MAPT	17	44060812	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	5451479	44060812	37134398	78	374											
PHB	5245	broad.mit.edu	37	chr17	47482526	47482526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagctgccttggagtcgCcctcagcagagatgatggcc	13	13	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:47482526C>T	ENST00000300408.3	-	7	719	c.647G>A	c.(646-648)gGc>gAc	p.G216D	RP11-1079K10.4_ENST00000506504.3_RNA|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	216					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CTTGGAGTCGCCCTCAGCAGA	0.562													False	0	True	17:47482526	0	T	47482526	C	T	47482526	3	4	4	1	0	0	0	0	1	0	0	0	11883	739	26	2	175	2	PHB	17	47482526	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	3421714	47482526	33712684	79	375											
ACOX1	51	broad.mit.edu	37	chr17	73947567	73947567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtctccttcatgtatgCgcccacaaactggaaggcat	9	11	2	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:73947567C>T	ENST00000537812.1	-	8	1570	c.922G>A	c.(922-924)Gca>Aca	p.A308T	ACOX1_ENST00000301608.4_Missense_Mutation_p.A346T|ACOX1_ENST00000293217.5_Missense_Mutation_p.A346T	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	346					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TTCATGTATGCGCCCACAAAC	0.488													False	0	False	17:73947567	0	T	73947567	C	T	73947567	3	4	4	1	0	0	0	0	1	0	0	0	158	768	27	1	974	1	ACOX1	17	73947567	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	26465041	73947567	7247643	80	376											
EVPL	2125	broad.mit.edu	37	chr17	74014618	74014618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccgccagggccctgcaCgacccaggcgtgcgggtcag	14	18	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:74014618C>T	ENST00000301607.3	-	12	1601	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M	EVPL_ENST00000586740.1_Missense_Mutation_p.V450M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	450	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGCCCTGCACGACCCAGGCG	0.662													False	0	False	17:74014618	0	T	74014618	C	T	74014618	3	4	4	1	0	0	0	0	1	0	0	0	5324	536	19	1	4797	1	EVPL	17	74014618	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	67051	74014618	7180592	81	377											
SMAD4	4089	broad.mit.edu	37	chr18	48584787	48584787	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaccaaaacggccatcttCagcaccacccgcctatgccg	6	19	2	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr18:48584787C>T	ENST00000342988.3	+	7	1403	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q289*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	289	SAD.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.Q289*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CGGCCATCTTCAGCACCACCC	0.463													False	0	False	18:48584787	0	T	48584787	C	T	48584787	4	4	4	1	0	0	0	0	0	1	0	0	14840	827	29	2	887	2	SMAD4	18	48584787	Nonsense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		48584787	29492461	82	378											
ZNF407	55628	broad.mit.edu	37	chr18	72347372	72347372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccagcatctggctagtgCcggccacatgagaaatgagc	11	12	2	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr18:72347372C>T	ENST00000299687.5	+	1	4397	c.4397C>T	c.(4396-4398)gCc>gTc	p.A1466V	ZNF407_ENST00000309902.6_Missense_Mutation_p.A1466V|ZNF407_ENST00000582337.1_Missense_Mutation_p.A1466V|ZNF407_ENST00000577538.1_Missense_Mutation_p.A1466V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTGGCTAGTGCCGGCCACATG	0.498													False	0	False	18:72347372	0	T	72347372	C	T	72347372	3	4	4	1	0	0	0	0	1	0	0	0	17970	739	26	2	4399	2	ZNF407	18	72347372	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	23762585	72347372	5729876	83	379											
FSD1	79187	broad.mit.edu	37	chr19	4310553	4310553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcatggtggacttcgcGcaagagcggcagatgctaca	12	12	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:4310553G>A	ENST00000221856.6	+	6	597	c.450G>A	c.(448-450)gcG>gcA	p.A150A	FSD1_ENST00000597590.1_Silent_p.A150A|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	150	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACTTCGCGCAAGAGCGGC	0.592													False	0	False	19:4310553	0	A	4310553	G	A	4310553	2	1	4	1	0	0	0	0	0	0	0	1	6112	1074	38	1		1	FSD1	19	4310553	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		4310553	54818430	84	380											
EMR1	2015	broad.mit.edu	37	chr19	6926610	6926610	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggctatggaatgcataaTcggtgagtgacatcctctct	11	9	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:6926610T>C	ENST00000312053.4	+	16	2257	c.2220T>C	c.(2218-2220)aaT>aaC	p.N740N	EMR1_ENST00000381404.4_Silent_p.N688N|EMR1_ENST00000450315.3_Silent_p.N563N|EMR1_ENST00000381407.5_Silent_p.N599N|EMR1_ENST00000250572.8_Silent_p.N675N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	740					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAATGCATAATCGGTGAGTGA	0.502													False	0	False	19:6926610	0	C	6926610	T	C	6926610	2	2	4	1	0	0	0	0	0	0	0	1	5136	1432	50	4		4	EMR1	19	6926610	Silent	SNP	T	TCGA-2J-AAB8-01A-12D-A40W-08	2616057	6926610	52202373	85	381											
EPOR	2057	broad.mit.edu	37	chr19	11492697	11492697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacgaagctcgacgtgtcGgctgtaggcagcgaacacca	14	12	0	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:11492697G>A	ENST00000592375.2	-	3	440	c.336C>T	c.(334-336)gcC>gcT	p.A112A	EPOR_ENST00000222139.6_Silent_p.A112A			P19235	EPOR_HUMAN	erythropoietin receptor	112						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TCGACGTGTCGGCTGTAGGCA	0.617													False	0	False	19:11492697	0	A	11492697	G	A	11492697	2	1	4	1	0	0	0	0	0	0	0	1	5221	1103	39	1		1	EPOR	19	11492697	Silent	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	4566087	11492697	47636286	86	382											
JUNB	3726	broad.mit.edu	37	chr19	12902601	12902601	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccggatgtgcactaaaatgGaacagcccttctaccacgac	8	14	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:12902601G>T	ENST00000302754.4	+	1	292	c.16G>T	c.(16-18)Gaa>Taa	p.E6*		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	6						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CACTAAAATGGAACAGCCCTT	0.662													False	0	False	19:12902601	0	T	12902601	G	T	12902601	4	4	4	1	0	0	0	0	0	1	0	0	8020	1175	41	3	18	3	JUNB	19	12902601	Nonsense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	1409904	12902601	46226382	87	383											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	4	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-2J-AAB8-01A-12D-A40W-08	1181066	14083667	45045316	88	384											
NWD1	284434	broad.mit.edu	37	chr19	16910925	16910925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaagctacgtctacttcCccaaaattggggacaaaaac	8	10	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:16910925C>T	ENST00000524140.2	+	17	4106	c.3688C>T	c.(3688-3690)Ccc>Tcc	p.P1230S	NWD1_ENST00000552788.1_Missense_Mutation_p.P1230S|NWD1_ENST00000379808.3_Missense_Mutation_p.P1230S|NWD1_ENST00000339803.6_Missense_Mutation_p.P1095S|NWD1_ENST00000523826.1_Missense_Mutation_p.P1024S|NWD1_ENST00000549814.1_Missense_Mutation_p.P1188S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1230							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGTCTACTTCCCCAAAATTGG	0.512													False	0	True	19:16910925	0	T	16910925	C	T	16910925	3	4	4	1	0	0	0	0	1	0	0	0	10849	623	22	2	3333	2	NWD1	19	16910925	Missense_Mutation	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08	2827258	16910925	42218058	89	385											
ADRA1D	146	broad.mit.edu	37	chr20	4202204	4202204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtaggttgctgtagtcgGccaattcgtaggcctggcag	14	11	0	0	rs147522815		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr20:4202204G>A	ENST00000379453.4	-	2	1801	c.1685C>T	c.(1684-1686)gCc>gTc	p.A562V		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	562				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GCTGTAGTCGGCCAATTCGTA	0.667											OREG0025743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	20:4202204	0	A	4202204	G	A	4202204	3	1	4	1	0	0	0	0	1	0	0	0	336	1203	42	2	37	2	ADRA1D	20	4202204	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08		4202204	58823316	90	386											
BAGE2	85319	broad.mit.edu	37	chr21	11098791	11098791	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgccctcctaacactccagCtgcgctgccatctctgttgc	7	19	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr21:11098791C>A	ENST00000470054.1	-	0	134									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aacactccagctgcgctgcca	0.632													False	0	True	21:11098791	0	A	11098791	C	A	11098791	1	1	4	0	1	0	0	0	0	0	0	0	1296	812	28	3		3	BAGE2	21	11098791	RNA	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		11098791	37031104	91	387											
CRKL	1399	broad.mit.edu	37	chr22	21288172	21288172	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattttcctgggaatgatgcCgaagacctgccctttaaaaa	9	9	0	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr22:21288172C>A	ENST00000354336.3	+	2	926	c.417C>A	c.(415-417)gcC>gcA	p.A139A		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	139	SH3 1.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GGAATGATGCCGAAGACCTGC	0.502													False	0	False	22:21288172	0	A	21288172	C	A	21288172	2	1	4	1	0	0	0	0	0	0	0	1	3908	639	23	3		3	CRKL	22	21288172	Silent	SNP	C	TCGA-2J-AAB8-01A-12D-A40W-08		21288172	30016394	92	388											
NUP50	10762	broad.mit.edu	37	chr22	45580351	45580351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcaacatattgctgaacGttctgattccacccaatatg	7	11	1	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr22:45580351G>A	ENST00000347635.4	+	8	1688	c.1222G>A	c.(1222-1224)Gtt>Att	p.V408I	NUP50_ENST00000407019.2_Missense_Mutation_p.V380I|NUP50_ENST00000425733.2_Missense_Mutation_p.V158I|NUP50_ENST00000396096.2_Missense_Mutation_p.V380I	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa		RanBD1.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATTGCTGAACGTTCTGATTCC	0.393													False	0	False	22:45580351	0	A	45580351	G	A	45580351	3	1	4	1	0	0	0	0	1	0	0	0	10834	1145	40	1	1248	1	NUP50	22	45580351	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	24292179	45580351	5724215	93	389											
CSF2RA	0	broad.mit.edu	37	chrX	1422850	1422850	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctcggctctgtgtacatTtatgtgctcctaatcgtggg	10	10	1	0			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chrX:1422850T>C	ENST00000381524.3	+	11	1167	c.981T>C	c.(979-981)atT>atC	p.I327I	CSF2RA_ENST00000381529.3_Silent_p.I327I|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000417535.2_Silent_p.I361I|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000432318.2_Silent_p.I327I|CSF2RA_ENST00000501036.2_Silent_p.I194I|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381509.3_Silent_p.I327I|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	327						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGTGTACATTTATGTGCTCC	0.498													False	0	True	X:1422850	0	C	1422850	T	C	1422850	2	2	4	1	0	0	0	0	0	0	0	1	3959	1829	64	4		4	CSF2RA	23	1422850	Silent	SNP	T	TCGA-2J-AAB8-01A-12D-A40W-08		1422850	153847710	94	390											
PHEX	5251	broad.mit.edu	37	chrX	22117217	22117217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagaatgtggtggtccgcGtcccgcagtactttaaagat	12	10	0	2			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chrX:22117217G>A	ENST00000379374.4	+	9	1592	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	PHEX_ENST00000418858.3_Missense_Mutation_p.V46I|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Missense_Mutation_p.V246I|PHEX_ENST00000537599.1_Missense_Mutation_p.V343I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	343					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGTGGTCCGCGTCCCGCAGTA	0.443													False	0	False	X:22117217	0	A	22117217	G	A	22117217	3	1	4	1	0	0	0	0	1	0	0	0	11888	1145	40	1	1061	1	PHEX	23	22117217	Missense_Mutation	SNP	G	TCGA-2J-AAB8-01A-12D-A40W-08	20694367	22117217	133153343	95	391											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	5	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-2J-AAB9-01A-11D-A40W-08		22987385	226263236	1	392											
USP24	23358	broad.mit.edu	37	chr1	55562215	55562215	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attctcctccaaagcattcaTactccagggtctcgtcattt	5	13	4	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:55562215T>G	ENST00000294383.6	-	50	6016	c.6017A>C	c.(6016-6018)tAt>tCt	p.Y2006S	USP24_ENST00000407756.1_Missense_Mutation_p.Y1846S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2006					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAAGCATTCATACTCCAGGGT	0.323													False	0	False	1:55562215	0	G	55562215	T	G	55562215	3	3	5	1	0	0	0	0	1	0	0	0	17139	1406	49	4	1921	4	USP24	1	55562215	Missense_Mutation	SNP	T	TCGA-2J-AAB9-01A-11D-A40W-08	32574830	55562215	193688406	2	393											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	5	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-2J-AAB9-01A-11D-A40W-08	97109300	152671515	96579106	3	394											
ATP8B2	57198	broad.mit.edu	37	chr1	154306722	154306722	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgaaacaccgagtggtgcttCgggctggtcatctttgcagg	14	10	2	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:154306722C>T	ENST00000368489.3	+	10	828	c.828C>T	c.(826-828)ttC>ttT	p.F276F	ATP8B2_ENST00000368487.3_Silent_p.F243F|ATP8B2_ENST00000341822.2_Silent_p.F262F|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	262					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTGGTGCTTCGGGCTGGTCA	0.542													False	0	True	1:154306722	0	T	154306722	C	T	154306722	2	4	5	1	0	0	0	0	0	0	0	1	1199	883	31	1		1	ATP8B2	1	154306722	Silent	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	1635207	154306722	94943899	4	395											
PAQR6	79957	broad.mit.edu	37	chr1	156215369	156215369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggaaggagttgagtgCggcggcaggcacaaagaact	16	8	0	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr1:156215369C>T	ENST00000335852.1	-	4	766	c.151G>A	c.(151-153)Gca>Aca	p.A51T	PAQR6_ENST00000292291.5_Missense_Mutation_p.A157T|PAQR6_ENST00000540423.1_Missense_Mutation_p.A154T|PAQR6_ENST00000356983.2_Missense_Mutation_p.A51T|PAQR6_ENST00000368270.1_Missense_Mutation_p.A133T|PAQR6_ENST00000492619.1_5'UTR	NM_024897.3	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	157						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GAGTTGAGTGCGGCGGCAGGC	0.687													False	0	False	1:156215369	0	T	156215369	C	T	156215369	3	4	5	1	0	0	0	0	1	0	0	0	11507	768	27	1	920	1	PAQR6	1	156215369	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	1908647	156215369	93035252	5	396											
EPB41L5	57669	broad.mit.edu	37	chr2	120776837	120776837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgatgttagtgtggacttGccagtaagtaggtcttgctg	13	6	1	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:120776837G>A	ENST00000263713.5	+	2	391	c.177G>A	c.(175-177)ttG>ttA	p.L59L	EPB41L5_ENST00000331393.4_Silent_p.L59L|EPB41L5_ENST00000443902.2_Silent_p.L59L|EPB41L5_ENST00000452780.1_Silent_p.L59L|EPB41L5_ENST00000443124.1_Silent_p.L59L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	59	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GTGTGGACTTGCCAGTAAGTA	0.443													False	0	False	2:120776837	0	A	120776837	G	A	120776837	2	1	5	1	0	0	0	0	0	0	0	1	5189	1310	46	2		2	EPB41L5	2	120776837	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08		120776837	122422536	6	397											
PARD3B	117583	broad.mit.edu	37	chr2	205983664	205983664	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattctaggactcttcatcCgaggcattgaagacaacagc	10	10	3	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:205983664C>T	ENST00000406610.2	+	7	907	c.700C>T	c.(700-702)Cga>Tga	p.R234*	PARD3B_ENST00000351153.1_Nonsense_Mutation_p.R234*|PARD3B_ENST00000349953.3_Nonsense_Mutation_p.R234*|PARD3B_ENST00000462231.1_Nonsense_Mutation_p.R234*|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.R234*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	234	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACTCTTCATCCGAGGCATTGA	0.338													False	0	False	2:205983664	0	T	205983664	C	T	205983664	4	4	5	1	0	0	0	0	0	1	0	0	11512	644	23	1	726	1	PARD3B	2	205983664	Nonsense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	85206827	205983664	37215709	7	398											
FARSB	10056	broad.mit.edu	37	chr2	223489170	223489170	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttaaatacatcctggtcaGaagtttggcaagattttctg	8	6	2	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:223489170G>A	ENST00000281828.6	-	12	1254	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	FARSB_ENST00000536361.1_Silent_p.L232L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	331	B5.				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATCCTGGTCAGAAGTTTGGCA	0.338													False	0	False	2:223489170	0	A	223489170	G	A	223489170	2	1	5	1	0	0	0	0	0	0	0	1	5720	933	33	2		2	FARSB	2	223489170	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	17505506	223489170	19710203	8	399											
SPHKAP	80309	broad.mit.edu	37	chr2	228882726	228882726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccactggagttgtcaagGcaaatcgctgcaatttcagt	9	9	2	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr2:228882726G>A	ENST00000392056.3	-	7	2890	c.2844C>T	c.(2842-2844)tgC>tgT	p.C948C	SPHKAP_ENST00000344657.5_Silent_p.C948C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	948						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTTGTCAAGGCAAATCGCTG	0.478													False	0	False	2:228882726	0	A	228882726	G	A	228882726	2	1	5	1	0	0	0	0	0	0	0	1	15130	1195	42	2		2	SPHKAP	2	228882726	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	5393556	228882726	14316647	9	400											
GRIP2	80852	broad.mit.edu	37	chr3	14552768	14552768	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggggcagttgtccaggCggatattgtcaatggccagt	14	9	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:14552768C>T	ENST00000273083.3	-	0	1902							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GTTGTCCAGGCGGATATTGTC	0.612													False	0	False	3:14552768	0	T	14552768	C	T	14552768	1	4	5	0	1	0	0	0	0	0	0	0	6835	768	27	1		1	GRIP2	3	14552768	RNA	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08		14552768	183469662	10	401											
MYLK	4638	broad.mit.edu	37	chr3	123345771	123345771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggatgctgaaggcactgcGtgcagtccaggcggtttctg	15	9	1	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:123345771G>A	ENST00000360772.3	-	31	5357	c.4979C>T	c.(4978-4980)aCg>aTg	p.T1660M	MYLK_ENST00000354792.5_Missense_Mutation_p.T511M|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000475616.1_Missense_Mutation_p.T1711M|MYLK_ENST00000360304.3_Missense_Mutation_p.T1711M|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000359169.1_Missense_Mutation_p.T1660M|MYLK_ENST00000346322.5_Missense_Mutation_p.T1642M			Q15746	MYLK_HUMAN	myosin light chain kinase	1711	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AAGGCACTGCGTGCAGTCCAG	0.502													False	0	False	3:123345771	0	A	123345771	G	A	123345771	3	1	5	1	0	0	0	0	1	0	0	0	10123	1145	40	1	628	1	MYLK	3	123345771	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	108793003	123345771	74676659	11	402											
MSL2	55167	broad.mit.edu	37	chr3	135913815	135913815	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaataaaaagcgtctcaccGcaaacacagcacgaaaggga	8	11	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:135913815G>A	ENST00000309993.2	-	1	873	c.141C>T	c.(139-141)tgC>tgT	p.C47C		NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	47					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GCGTCTCACCGCAAACACAGC	0.507													False	0	False	3:135913815	0	A	135913815	G	A	135913815	5	1	5	1	0	0	0	0	0	0	1	0	9945	1101	38	1	1600	1	MSL2	3	135913815	Splice_Site	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	12568044	135913815	62108615	12	403											
MED12L	116931	broad.mit.edu	37	chr3	151107890	151107890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggccagccccagcagcccGgctttttccttcagaaccaa	9	16	1	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:151107890G>A	ENST00000474524.1	+	36	5508	c.5470G>A	c.(5470-5472)Ggc>Agc	p.G1824S	MED12L_ENST00000273432.4_Missense_Mutation_p.G1684S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1824					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCAGCCCGGCTTTTTCCT	0.502													False	0	True	3:151107890	0	A	151107890	G	A	151107890	3	1	5	1	0	0	0	0	1	0	0	0	9496	1116	39	1	5612	1	MED12L	3	151107890	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	15194075	151107890	46914540	13	404											
ABCF3	55324	broad.mit.edu	37	chr3	183904017	183904017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgacttgcgccgaaatcCtgcggagcgagttccccgaa	13	13	0	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:183904017C>T	ENST00000429586.2	+	1	207	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.L8L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	8							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCCGAAATCCTGCGGAGCGA	0.652													False	0	False	3:183904017	0	T	183904017	C	T	183904017	2	4	5	1	0	0	0	0	0	0	0	1	67	680	24	2		2	ABCF3	3	183904017	Silent	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	32796127	183904017	14118413	14	405											
FETUB	26998	broad.mit.edu	37	chr3	186370361	186370361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccccaaagaaaaagcaCgcactgctgagtgcccaggg	10	13	0	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:186370361C>T	ENST00000265029.3	+	7	1191	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	FETUB_ENST00000539949.1_Missense_Mutation_p.R216C|FETUB_ENST00000382136.3_Missense_Mutation_p.R327C|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.R364C|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.R299C	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	364						extracellular space	cysteine-type endopeptidase inhibitor activity	p.R364C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGAAAAAGCACGCACTGCTGA	0.562													False	0	True	3:186370361	0	T	186370361	C	T	186370361	3	4	5	1	0	0	0	0	1	0	0	0	5861	536	19	1	1116	1	FETUB	3	186370361	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	2466344	186370361	11652069	15	406											
CCDC50	152137	broad.mit.edu	37	chr3	191098488	191098488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcataggctacccaggtgGacatgagagccgctcaagta	11	10	2	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr3:191098488G>A	ENST00000392455.3	+	7	1175	c.577G>A	c.(577-579)Gac>Aac	p.D193N	CCDC50_ENST00000392456.3_Missense_Mutation_p.D369N	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	193						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TACCCAGGTGGACATGAGAGC	0.348													False	0	False	3:191098488	0	A	191098488	G	A	191098488	3	1	5	1	0	0	0	0	1	0	0	0	2841	1174	41	2	1135	2	CCDC50	3	191098488	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	4728127	191098488	6923942	16	407											
AFAP1	60312	broad.mit.edu	37	chr4	7787976	7787976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccgtcccgctggggtggGcatagccgttggaggtgccc	18	12	0	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:7787976G>A	ENST00000420658.1	-	12	1747	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.A492V|AFAP1_ENST00000360265.4_Missense_Mutation_p.A492V|AFAP1_ENST00000382543.3_Missense_Mutation_p.A492V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	492						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GCTGGGGTGGGCATAGCCGTT	0.493													False	0	True	4:7787976	0	A	7787976	G	A	7787976	3	1	5	1	0	0	0	0	1	0	0	0	353	1203	42	2	997	2	AFAP1	4	7787976	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08		7787976	183366300	17	408											
C1QTNF7	114905	broad.mit.edu	37	chr4	15444115	15444115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagggaagttcatctgtGctttcccagggatctattac	9	11	3	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:15444115G>A	ENST00000295297.4	+	3	842	c.583G>A	c.(583-585)Gct>Act	p.A195T	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.A188T|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.A188T	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	188	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GTTCATCTGTGCTTTCCCAGG	0.438													False	0	False	4:15444115	0	A	15444115	G	A	15444115	3	1	5	1	0	0	0	0	1	0	0	0	1983	1319	46	2	593	2	C1QTNF7	4	15444115	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	7656139	15444115	175710161	18	409											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	5	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-2J-AAB9-01A-11D-A40W-08	24990590	40434705	150719571	19	410											
WDR36	134430	broad.mit.edu	37	chr5	110459563	110459563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccatttttcattccaAcaattcctggccttgtaccc	4	15	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:110459563A>G	ENST00000506538.2	+	20	2950	c.2377A>G	c.(2377-2379)Aca>Gca	p.T793A	WDR36_ENST00000513710.2_Missense_Mutation_p.T793A	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	793					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTTCATTCCAACAATTCCTGG	0.353													False	0	False	5:110459563	0	G	110459563	A	G	110459563	3	3	5	1	0	0	0	0	1	0	0	0	17374	43	2	4	2455	4	WDR36	5	110459563	Missense_Mutation	SNP	A	TCGA-2J-AAB9-01A-11D-A40W-08		110459563	70455697	20	411											
EPB41L4A	64097	broad.mit.edu	37	chr5	111616005	111616005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcagcaagggtttttgCaggatccagccaatactgtg	12	8	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:111616005C>T	ENST00000261486.5	-	3	496	c.220G>A	c.(220-222)Gca>Aca	p.A74T		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	74	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGGGTTTTTGCAGGATCCAGC	0.338													False	0	False	5:111616005	0	T	111616005	C	T	111616005	3	4	5	1	0	0	0	0	1	0	0	0	5187	710	25	2	1924	2	EPB41L4A	5	111616005	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	1156442	111616005	69299255	21	412											
PCDHA3	0	broad.mit.edu	37	chr5	140183013	140183013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgctggtgtgctccagcgCggtggggagctggtcatact	16	11	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr5:140183013C>T	ENST00000522353.2	+	1	2231	c.2231C>T	c.(2230-2232)gCg>gTg	p.A744V	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A744V	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCAGCGCGGTGGGGAGC	0.637													False	0	False	5:140183013	0	T	140183013	C	T	140183013	3	4	5	1	0	0	0	0	1	0	0	0	11593	768	27	1	2233	1	PCDHA3	5	140183013	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	28567008	140183013	40732247	22	413											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184241	26184241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaacgacatcttcgagcGcatcgccggcgaggcttccc	11	15	2	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:26184241G>A	ENST00000356530.3	+	1	284	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	73					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						ATCTTCGAGCGCATCGCCGGC	0.597													False	0	False	6:26184241	0	A	26184241	G	A	26184241	3	1	5	1	0	0	0	0	1	0	0	0	7191	1087	38	1	220	1	HIST1H2BE	6	26184241	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08		26184241	144930826	23	414											
TXLNB	167838	broad.mit.edu	37	chr6	139563774	139563774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctgcctactgggctcGcatgcaggcaccatggctgc	16	13	0	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:139563774G>A	ENST00000358430.3	-	10	2176	c.1944C>T	c.(1942-1944)tgC>tgT	p.C648C	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	648						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TACTGGGCTCGCATGCAGGCA	0.652													False	0	False	6:139563774	0	A	139563774	G	A	139563774	2	1	5	1	0	0	0	0	0	0	0	1	16872	1079	38	1		1	TXLNB	6	139563774	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	113379533	139563774	31551293	24	415											
SYNJ2	8871	broad.mit.edu	37	chr6	158484842	158484842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttcagaaaggcactttgCggatgaactgtcttgactgc	11	8	2	3			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr6:158484842C>T	ENST00000355585.4	+	9	1222	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	SYNJ2_ENST00000367122.2_Missense_Mutation_p.R383W|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R383W|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R311W	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	383	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGGCACTTTGCGGATGAACTG	0.502													False	0	False	6:158484842	0	T	158484842	C	T	158484842	3	4	5	1	0	0	0	0	1	0	0	0	15535	759	27	1	1181	1	SYNJ2	6	158484842	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	18921068	158484842	12630225	25	416											
ABCB1	5243	broad.mit.edu	37	chr7	87190672	87190672	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcttttgcatacgctAagagttctttatcagtaaat	6	9	2	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:87190672A>G	ENST00000265724.3	-	9	1151	c.734T>C	c.(733-735)tTa>tCa	p.L245S	ABCB1_ENST00000543898.1_Missense_Mutation_p.L181S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	245	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TGCATACGCTAAGAGTTCTTT	0.318													False	0	False	7:87190672	0	G	87190672	A	G	87190672	3	3	5	1	0	0	0	0	1	0	0	0	40	372	13	4	3192	4	ABCB1	7	87190672	Missense_Mutation	SNP	A	TCGA-2J-AAB9-01A-11D-A40W-08		87190672	71947991	26	417											
TRIP6	7205	broad.mit.edu	37	chr7	100466383	100466383	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgaggtgaagtctggggGcctggctataggagccagag	19	8	1	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:100466383G>T	ENST00000200457.4	+	4	990	c.630G>T	c.(628-630)ggG>ggT	p.G210G		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	210					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					AAGTCTGGGGGCCTGGCTATA	0.701													False	0	True	7:100466383	0	T	100466383	G	T	100466383	2	4	5	1	0	0	0	0	0	0	0	1	16642	1190	42	3		3	TRIP6	7	100466383	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	13275711	100466383	58672280	27	418											
MUC17	140453	broad.mit.edu	37	chr7	100683249	100683249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactaaagccagttcatctcCtacaactgctgaaggtatcg	7	11	2	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:100683249C>A	ENST00000306151.4	+	3	8616	c.8552C>A	c.(8551-8553)cCt>cAt	p.P2851H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2851	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2851H(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCATCTCCTACAACTGCT	0.507													False	0	False	7:100683249	0	A	100683249	C	A	100683249	3	1	5	1	0	0	0	0	1	0	0	0	10041	681	24	3	8562	3	MUC17	7	100683249	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	216866	100683249	58455414	28	419											
SSPO	23145	broad.mit.edu	37	chr7	149477126	149477126	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcagtgggcaagaggggCggcagcaggctgtttgtgcc	19	9	0	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr7:149477126C>T	ENST00000378016.2	+	0	1303							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCAAGAGGGGCGGCAGCAGGC	0.637													False	0	True	7:149477126	0	T	149477126	C	T	149477126	1	4	5	0	1	0	0	0	0	0	0	0	15271	759	27	1		1	SSPO	7	149477126	RNA	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	48793877	149477126	9661537	29	420											
LZTS1	11178	broad.mit.edu	37	chr8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-													agctcattctcacagacctcCagctccaggcccttggtgcg					rs148039718	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENST00000381569.1	-	4	1651_1698	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel	p.RTQDLEGALRTKGLEL432del	LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	432					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACAGACCTCCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCTCAGCTCCAGG	0.657													False	1	True	8:20107683	0	-	20107730	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	20107683	7	5	5	1	0	1	0	1	0	0	0	0	9201	581	21	0	453	0	LZTS1	8	20107683	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	TCGA-2J-AAB9-01A-11D-A40W-08		20107683	126256339	30	421											
KCNS2	3788	broad.mit.edu	37	chr8	99440470	99440470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcatttctatcacaccgGcaagcttcacgtcatggctg	9	13	4	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:99440470G>A	ENST00000287042.4	+	2	613	c.263G>A	c.(262-264)gGc>gAc	p.G88D	KCNS2_ENST00000521839.1_Missense_Mutation_p.G88D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	88						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G88D(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TATCACACCGGCAAGCTTCAC	0.542													False	0	False	8:99440470	0	A	99440470	G	A	99440470	3	1	5	1	0	0	0	0	1	0	0	0	8139	1203	42	2	265	2	KCNS2	8	99440470	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	79332787	99440470	46923552	31	422											
VPS13B	157680	broad.mit.edu	37	chr8	100729436	100729436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatttctactcagtataaaCgattttctccttaaaacaag	3	9	4	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr8:100729436C>T	ENST00000358544.2	+	37	6678	c.6567C>T	c.(6565-6567)aaC>aaT	p.N2189N	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.N2164N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2189					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAGTATAAACGATTTTCTCC	0.353													False	0	True	8:100729436	0	T	100729436	C	T	100729436	2	4	5	1	0	0	0	0	0	0	0	1	17274	535	19	1		1	VPS13B	8	100729436	Silent	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	1288966	100729436	45634586	32	423											
CDKN2A	1029	broad.mit.edu	37	chr9	21971137	21971138	+	Frame_Shift_Del	DEL	TC	TC	-													gtcgggtgagagtggcggggTcggcgcagttgggctccgcg							TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr9:21971137_21971138delTC	ENST00000479692.2	-	2	81_82	c.67_68delGA	c.(67-69)gacfs	p.D23fs	CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.D23fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.D23fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.D23fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.D23fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.D74fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.D74fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.R88fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.R129fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.R88fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.D74fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.D74fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	74			G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D74Y(5)|p.D74N(2)|p.D74V(2)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.C72fs*71(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGTGGCGGGGTCGGCGCAGTTG	0.713		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	1	False	9:21971137	0	-	21971138	TC	-	21971137	7	5	5	1	0	1	0	1	0	0	0	0	3184	1667	58	0	257	0	CDKN2A	9	21971137	Frame_Shift_Del	DEL	TC	TCGA-2J-AAB9-01A-11D-A40W-08		21971137	119242294	33	424											
SMU1	55234	broad.mit.edu	37	chr9	33068870	33068870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcaccacactgacttcGccagctaaggcctgggcaat	12	13	0	1	rs113018466	byFrequency	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													False	0	False	9:33068870	0	A	33068870	G	A	33068870	2	1	5	1	0	0	0	0	0	0	0	1	14897	1074	38	1		1	SMU1	9	33068870	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	11097733	33068870	108144561	34	425											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	5	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08		25398284	108453611	35	426											
CINP	51550	broad.mit.edu	37	chr14	102815068	102815068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcagctccttcctgtaCatctccaagagcttatgcga	9	12	1	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr14:102815068C>T	ENST00000216756.6	-	5	505	c.465G>A	c.(463-465)atG>atA	p.M155I	CINP_ENST00000541568.2_Missense_Mutation_p.C112Y|CINP_ENST00000536961.2_Missense_Mutation_p.M170I	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	155					cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding			large_intestine(2)|lung(2)	4						CCTTCCTGTACATCTCCAAGA	0.527													False	0	False	14:102815068	0	T	102815068	C	T	102815068	3	4	5	1	0	0	0	0	1	0	0	0	3454	478	17	2	177	2	CINP	14	102815068	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08		102815068	4534472	36	427											
TEPP	374739	broad.mit.edu	37	chr16	58018681	58018681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacttcgtgtcctcggccGgggagttcaagctgccttgc	12	15	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr16:58018681G>A	ENST00000290871.5	+	4	629	c.592G>A	c.(592-594)Ggg>Agg	p.G198R	TEPP_ENST00000441824.2_Missense_Mutation_p.G198R|TEPP_ENST00000569996.1_3'UTR	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	198						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						GTCCTCGGCCGGGGAGTTCAA	0.682													False	0	True	16:58018681	0	A	58018681	G	A	58018681	3	1	5	1	0	0	0	0	1	0	0	0	15842	1116	39	1	606	1	TEPP	16	58018681	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08		58018681	32336072	37	428											
CNTNAP4	85445	broad.mit.edu	37	chr16	76486445	76486445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacaaccacaatctatgcCcgtgacttttctgagctcca	5	14	3	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr16:76486445C>T	ENST00000307431.8	+	9	1494	c.1109C>T	c.(1108-1110)cCc>cTc	p.P370L	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P298L|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P374L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P322L|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	371					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAATCTATGCCCGTGACTTTT	0.393													False	0	True	16:76486445	0	T	76486445	C	T	76486445	3	4	5	1	0	0	0	0	1	0	0	0	3672	623	22	2	1155	2	CNTNAP4	16	76486445	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	18467764	76486445	13868308	38	429											
TP53	7157	broad.mit.edu	37	chr17	7579377	7579377	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggaaaccgtagctgccctGgtaggttttctgggaaggga	15	8	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:7579377G>A	ENST00000420246.2	-	4	442	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q104*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	104	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TAGCTGCCCTGGTAGGTTTTC	0.632		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)			False	0	False	17:7579377	0	A	7579377	G	A	7579377	4	1	5	1	0	0	0	0	0	1	0	0	16464	1357	47	2	992	2	TP53	17	7579377	Nonsense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08		7579377	73615833	39	430											
KRT13	3860	broad.mit.edu	37	chr17	39658808	39658808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctgcagggcatagcgGcactccgtctctgccaccgt	12	15	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr17:39658808G>A	ENST00000246635.3	-	6	1108	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C	KRT13_ENST00000587544.1_Silent_p.C354C|KRT13_ENST00000336861.3_Silent_p.C354C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	354	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGGCATAGCGGCACTCCGTCT	0.607													False	0	False	17:39658808	0	A	39658808	G	A	39658808	2	1	5	1	0	0	0	0	0	0	0	1	8500	1195	42	2		2	KRT13	17	39658808	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	32079431	39658808	41536402	40	431											
FHOD3	80206	broad.mit.edu	37	chr18	34205579	34205579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggcggaggcgagcacCggggcctggaccgcagaagg	19	12	0	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr18:34205579C>T	ENST00000257209.4	+	10	1185	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	FHOD3_ENST00000590592.1_Missense_Mutation_p.R355W|FHOD3_ENST00000445677.1_Missense_Mutation_p.R355W|FHOD3_ENST00000359247.4_Missense_Mutation_p.R355W|FHOD3_ENST00000591635.1_Silent_p.T29T	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	355	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.R355W(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGGCGAGCACCGGGGCCTGGA	0.697													False	0	True	18:34205579	0	T	34205579	C	T	34205579	3	4	5	1	0	0	0	0	1	0	0	0	5923	643	23	1	1101	1	FHOD3	18	34205579	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08		34205579	43871669	41	432											
LONP1	9361	broad.mit.edu	37	chr19	5693658	5693658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaaggtgtaggctatgcGggcgctctccttcatcacct	13	12	3	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:5693658G>A	ENST00000360614.3	-	16	2600	c.2443C>T	c.(2443-2445)Cgc>Tgc	p.R815C	LONP1_ENST00000540670.2_Missense_Mutation_p.R619C|LONP1_ENST00000585374.1_Missense_Mutation_p.R701C|LONP1_ENST00000590729.1_Missense_Mutation_p.R685C|LONP1_ENST00000593119.1_Missense_Mutation_p.R751C	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	815					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGGCTATGCGGGCGCTCTCC	0.622													False	0	True	19:5693658	0	A	5693658	G	A	5693658	3	1	5	1	0	0	0	0	1	0	0	0	8954	1116	39	1	448	1	LONP1	19	5693658	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08		5693658	53435325	42	433											
ACTL9	284382	broad.mit.edu	37	chr19	8808452	8808452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactgtgtaggtgaccccGtgtcccgtgtccaccaccag	12	15	0	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:8808452G>A	ENST00000324436.3	-	1	720	c.600C>T	c.(598-600)caC>caT	p.H200H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	200						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGGTGACCCCGTGTCCCGTGT	0.672													False	0	True	19:8808452	0	A	8808452	G	A	8808452	2	1	5	1	0	0	0	0	0	0	0	1	203	1136	40	1		1	ACTL9	19	8808452	Silent	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	3114794	8808452	50320531	43	434											
ZNF100	163227	broad.mit.edu	37	chr19	21910701	21910701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaattgtcatgtccaTattttccatattttttcaga	4	7	2	1	rs141420280	by1000genomes	TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:21910701T>C	ENST00000358296.6	-	5	611	c.413A>G	c.(412-414)tAt>tGt	p.Y138C	ZNF100_ENST00000305570.6_Missense_Mutation_p.Y74C	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTCATGTCCATATTTTCCATA	0.333													False	0	False	19:21910701	0	C	21910701	T	C	21910701	3	2	5	1	0	0	0	0	1	0	0	0	17796	1406	49	4	1219	4	ZNF100	19	21910701	Missense_Mutation	SNP	T	TCGA-2J-AAB9-01A-11D-A40W-08	13102249	21910701	37218282	44	435											
KLK15	55554	broad.mit.edu	37	chr19	51330383	51330383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgggccatcgcgcttgcGcaggttgtgctctcccaggc	13	15	2	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr19:51330383G>A	ENST00000326856.4	-	4	358	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	KLK15_ENST00000416184.1_Missense_Mutation_p.R78C|KLK15_ENST00000596931.1_Missense_Mutation_p.R77C|KLK15_ENST00000598239.1_Missense_Mutation_p.R78C|KLK15_ENST00000301421.2_Missense_Mutation_p.R78C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	78	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TCGCGCTTGCGCAGGTTGTGC	0.632													False	0	False	19:51330383	0	A	51330383	G	A	51330383	3	1	5	1	0	0	0	0	1	0	0	0	8453	1087	38	1	550	1	KLK15	19	51330383	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	29419682	51330383	7798600	45	436											
ASXL1	171023	broad.mit.edu	37	chr20	31023733	31023733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgagtatgtgcggtccGccaaaagatcccagattccc	10	13	1	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:31023733G>A	ENST00000375687.4	+	13	3642	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H	ASXL1_ENST00000306058.5_Missense_Mutation_p.R1068H	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1073					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGTGCGGTCCGCCAAAAGATC	0.572			"F, N, Mis"		"MDS, CMML"								False	0	False	20:31023733	0	A	31023733	G	A	31023733	3	1	5	1	0	0	0	0	1	0	0	0	1070	1087	38	1	3274	1	ASXL1	20	31023733	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08		31023733	32001787	46	437											
CSE1L	1434	broad.mit.edu	37	chr20	47704596	47704596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccataatcccctacatcCctactctcatcactcagctt	2	17	3	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr20:47704596C>T	ENST00000262982.2	+	17	1897	c.1774C>T	c.(1774-1776)Cct>Tct	p.P592S	CSE1L_ENST00000396192.3_Missense_Mutation_p.P536S|CSE1L_ENST00000542325.1_Missense_Mutation_p.P375S	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	592					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CCCCTACATCCCTACTCTCAT	0.358													False	0	True	20:47704596	0	T	47704596	C	T	47704596	3	4	5	1	0	0	0	0	1	0	0	0	3955	623	22	2	1836	2	CSE1L	20	47704596	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	16680863	47704596	15320924	47	438											
MGAT3	4248	broad.mit.edu	37	chr22	39884148	39884148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcaccttcgagtacatcCgccacaaggtgctctatgtc	9	13	1	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr22:39884148C>T	ENST00000341184.6	+	2	1011	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	266					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CGAGTACATCCGCCACAAGGT	0.637													False	0	False	22:39884148	0	T	39884148	C	T	39884148	3	4	5	1	0	0	0	0	1	0	0	0	9611	652	23	1	798	1	MGAT3	22	39884148	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08		39884148	11420418	48	439											
PHF21B	112885	broad.mit.edu	37	chr22	45312324	45312324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagggcggcgggctcggCgagggcctggggctggctgc	24	11	0	0			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chr22:45312324C>T	ENST00000313237.5	-	4	550	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	PHF21B_ENST00000396103.3_Missense_Mutation_p.A134T|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.A122T|PHF21B_ENST00000447824.3_Missense_Mutation_p.A122T	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	134							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCGGGCTCGGCGAGGGCCTGG	0.726													False	0	False	22:45312324	0	T	45312324	C	T	45312324	3	4	5	1	0	0	0	0	1	0	0	0	11903	768	27	1	1235	1	PHF21B	22	45312324	Missense_Mutation	SNP	C	TCGA-2J-AAB9-01A-11D-A40W-08	5428176	45312324	5992242	49	440											
DMD	1756	broad.mit.edu	37	chrX	31525402	31525402	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcttttcctacctaaTgttgagagactttttccgaa	5	11	1	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:31525402T>A	ENST00000357033.4	-	56	8592	c.8386A>T	c.(8386-8388)Att>Ttt	p.I2796F	DMD_ENST00000343523.2_Missense_Mutation_p.I336F|DMD_ENST00000378677.2_Missense_Mutation_p.I2792F|DMD_ENST00000541735.1_Missense_Mutation_p.I336F|DMD_ENST00000359836.1_Missense_Mutation_p.I336F|DMD_ENST00000474231.1_Missense_Mutation_p.I336F|DMD_ENST00000378707.3_Missense_Mutation_p.I336F|DMD_ENST00000445312.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2796					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTACCTAATGTTGAGAGAC	0.408													False	0	False	X:31525402	0	A	31525402	T	A	31525402	3	1	5	1	0	0	0	0	1	0	0	0	4610	1464	51	5	2881	5	DMD	23	31525402	Missense_Mutation	SNP	T	TCGA-2J-AAB9-01A-11D-A40W-08		31525402	123745158	50	441											
KDM6A	7403	broad.mit.edu	37	chrX	44928823	44928823	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actatttttctttctttttaGgggcttcacaaaggtcagag	8	7	4	1			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:44928823G>T	ENST00000377967.4	+	17	1964		c.e17-1		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTTCTTTTTAGGGGCTTCACA	0.378			"D, N, F, S"		"renal, oesophageal SCC, MM"								False	0	True	X:44928823	0	T	44928823	G	T	44928823	5	4	5	1	0	0	0	0	0	0	1	0	8187	1014	35	3	1989	3	KDM6A	23	44928823	Splice_Site	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	13403421	44928823	110341737	51	442											
L1CAM	3897	broad.mit.edu	37	chrX	153130847	153130847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtaggagctatagggccGcaagccactgaggatgacac	15	9	0	2			TCGA-2J-AAB9-01A-11D-A40W-08	TCGA-2J-AAB9-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8075728-2dc4-4d9b-8343-57b2da7bde0d	ac03264a-a295-4e60-bf15-03a7e921c667	g.chrX:153130847G>A	ENST00000370060.1	-	21	2845	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	886	Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R886W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTATAGGGCCGCAAGCCACTG	0.612													False	0	False	X:153130847	0	A	153130847	G	A	153130847	3	1	5	1	0	0	0	0	1	0	0	0	8639	1086	38	1	1153	1	L1CAM	23	153130847	Missense_Mutation	SNP	G	TCGA-2J-AAB9-01A-11D-A40W-08	108202024	153130847	2139713	52	443											
PRAMEF2	65122	broad.mit.edu	37	chr1	12920033	12920033	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgagggatggttagtcaccaGattcacctctgtgttcctca	10	11	4	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:12920033G>A	ENST00000240189.2	+	3	860	c.773G>A	c.(772-774)aGa>aAa	p.R258K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	258										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGTCACCAGATTCACCTCT	0.448													False	0	False	1:12920033	0	A	12920033	G	A	12920033	3	1	6	1	0	0	0	0	1	0	0	0	12509	942	33	2	779	2	PRAMEF2	1	12920033	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		12920033	236330588	1	444											
ARID1A	8289	broad.mit.edu	37	chr1	27101342	27101342	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagatcagagggccaaccacGaaggctcgtggccttcccat	11	14	1	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:27101342G>T	ENST00000324856.7	+	18	4995	c.4624G>T	c.(4624-4626)Gaa>Taa	p.E1542*	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1159*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1542					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E1542*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCAACCACGAAGGCTCGTG	0.642			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								False	0	False	1:27101342	0	T	27101342	G	T	27101342	4	4	6	1	0	0	0	0	0	1	0	0	915	1059	37	3	4694	3	ARID1A	1	27101342	Nonsense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	14181309	27101342	222149279	2	445											
MFSD2A	84879	broad.mit.edu	37	chr1	40421012	40421012	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctccgcggcggggctgctAcccaccagcatcctccaaag	12	17	0	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:40421012A>G	ENST00000372809.5	+	1	191	c.48A>G	c.(46-48)ctA>ctG	p.L16L	MFSD2A_ENST00000420632.2_5'UTR|MFSD2A_ENST00000372811.5_Silent_p.L16L	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	16					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGGGGCTGCTACCCACCAGCA	0.716													False	0	True	1:40421012	0	G	40421012	A	G	40421012	2	3	6	1	0	0	0	0	0	0	0	1	9597	378	14	4		4	MFSD2A	1	40421012	Silent	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	13319670	40421012	208829609	3	446											
PSMB4	5692	broad.mit.edu	37	chr1	151372561	151372561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctccttggctcgtttccGcaacatctctcgcattatgc	8	15	1	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:151372561G>A	ENST00000290541.6	+	2	299	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	82					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCGTTTCCGCAACATCTCT	0.562													False	0	False	1:151372561	0	A	151372561	G	A	151372561	3	1	6	1	0	0	0	0	1	0	0	0	12755	1087	38	1	251	1	PSMB4	1	151372561	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	110951549	151372561	97878060	4	447											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	6	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-2J-AABA-01A-21D-A40W-08	1298954	152671515	96579106	5	448											
PIGM	93183	broad.mit.edu	37	chr1	160000872	160000872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcccgattacacagcctttTcaggagctcgtacaaacaag	8	12	1	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:160000872T>C	ENST00000368090.2	-	1	911	c.658A>G	c.(658-660)Aaa>Gaa	p.K220E		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	220					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAGCCTTTTCAGGAGCTCG	0.493													False	0	True	1:160000872	0	C	160000872	T	C	160000872	3	2	6	1	0	0	0	0	1	0	0	0	11961	1792	62	4	617	4	PIGM	1	160000872	Missense_Mutation	SNP	T	TCGA-2J-AABA-01A-21D-A40W-08	7329357	160000872	89249749	6	449											
KIF21B	23046	broad.mit.edu	37	chr1	200950209	200950209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccttggctcctccaacCggggagatgatgccccttcc	10	17	0	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:200950209C>T	ENST00000332129.2	-	28	4135	c.3819G>A	c.(3817-3819)ccG>ccA	p.P1273P	KIF21B_ENST00000422435.2_Silent_p.P1286P|KIF21B_ENST00000360529.5_Silent_p.P1273P|KIF21B_ENST00000461742.2_Silent_p.P1286P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1286					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCCTCCAACCGGGGAGATGA	0.637													False	0	True	1:200950209	0	T	200950209	C	T	200950209	2	4	6	1	0	0	0	0	0	0	0	1	8339	639	23	1		1	KIF21B	1	200950209	Silent	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	40949337	200950209	48300412	7	450											
OR2L8	391190	broad.mit.edu	37	chr1	248112663	248112663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtactccatattccttattgCcgatccagggccatcaatca	6	13	2	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr1:248112663C>T	ENST00000357191.3	+	1	504	c.504C>T	c.(502-504)tgC>tgT	p.C168C	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTCCTTATTGCCGATCCAGGG	0.473													False	0	False	1:248112663	0	T	248112663	C	T	248112663	2	4	6	1	0	0	0	0	0	0	0	1	11077	747	26	2		2	OR2L8	1	248112663	Silent	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	47162454	248112663	1137958	8	451											
KIDINS220	57498	broad.mit.edu	37	chr2	8891668	8891668	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacttttacatctcgagccaCaagaactggggtccttgaag	10	10	1	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:8891668C>A	ENST00000256707.3	-	23	3299	c.3118G>T	c.(3118-3120)Gtg>Ttg	p.V1040L	KIDINS220_ENST00000427284.1_Missense_Mutation_p.V1040L|KIDINS220_ENST00000418530.1_Missense_Mutation_p.V998L|KIDINS220_ENST00000473731.1_Missense_Mutation_p.V1040L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1040					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCGAGCCACAAGAACTGGG	0.353													False	0	False	2:8891668	0	A	8891668	C	A	8891668	3	1	6	1	0	0	0	0	1	0	0	0	8321	478	17	3	2229	3	KIDINS220	2	8891668	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08		8891668	234307705	9	452											
DNMT3A	1788	broad.mit.edu	37	chr2	25459873	25459873	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcacagtggatgccaacgGcctaggaggcagaagagaga	14	8	1	3	rs35824014		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:25459873G>A	ENST00000264709.3	-	21	2747	c.2410C>T	c.(2410-2412)Ccg>Tcg	p.P804S	DNMT3A_ENST00000402667.1_Splice_Site_p.P581S|DNMT3A_ENST00000474887.1_Intron|DNMT3A_ENST00000321117.5_Splice_Site_p.P804S|DNMT3A_ENST00000380746.4_Splice_Site_p.P615S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	804					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R803fs*5(3)|p.P804S(2)|p.P615S(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCCAACGGCCTAGGAGGC	0.582			"Mis, F, N, S"		AML								False	0	False	2:25459873	0	A	25459873	G	A	25459873	5	1	6	1	0	0	0	0	0	0	1	0	4706	1217	42	2	340	2	DNMT3A	2	25459873	Splice_Site	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	16568205	25459873	217739500	10	453											
SLC8A1	6546	broad.mit.edu	37	chr2	40405540	40405540	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccccacctttcttctcactCatctccaccaggcggggctc	6	20	4	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:40405540C>A	ENST00000542756.1	-	3	1925	c.1902G>T	c.(1900-1902)atG>atT	p.M634I	SLC8A1_ENST00000405901.3_Missense_Mutation_p.M634I|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.M634I|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.M634I|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000599268.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	634					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCTTCTCACTCATCTCCACCA	0.507													False	0	True	2:40405540	0	A	40405540	C	A	40405540	3	1	6	1	0	0	0	0	1	0	0	0	14786	826	29	3	1163	3	SLC8A1	2	40405540	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	14945667	40405540	202793833	11	454											
SLC3A1	6519	broad.mit.edu	37	chr2	44531289	44531289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaactcttataggttcatgGggactgaagcctatgcagag	11	8	3	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:44531289G>A	ENST00000260649.6	+	7	1220	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	SLC3A1_ENST00000409387.1_Missense_Mutation_p.G382R|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G382R|SLC3A1_ENST00000409740.3_Missense_Mutation_p.G13R|SLC3A1_ENST00000409294.1_Missense_Mutation_p.G2R|SLC3A1_ENST00000409380.1_Missense_Mutation_p.G104R|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G382R	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	382					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TAGGTTCATGGGGACTGAAGC	0.458													False	0	True	2:44531289	0	A	44531289	G	A	44531289	3	1	6	1	0	0	0	0	1	0	0	0	14706	1232	43	2	1170	2	SLC3A1	2	44531289	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	4125749	44531289	198668084	12	455											
MOGS	7841	broad.mit.edu	37	chr2	74688883	74688883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagttgaggttggggcCgacccaccacccgaacgagc	13	14	0	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:74688883C>T	ENST00000233616.4	-	4	2195	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q	MOGS_ENST00000452063.2_Missense_Mutation_p.R572Q|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	678					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AGGTTGGGGCCGACCCACCAC	0.597													False	0	False	2:74688883	0	T	74688883	C	T	74688883	3	4	6	1	0	0	0	0	1	0	0	0	9764	652	23	1	484	1	MOGS	2	74688883	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	30157594	74688883	168510490	13	456											
NCAPH	23397	broad.mit.edu	37	chr2	97019996	97019996	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgctgaagttgacgagagtGactgtggagacttccccgat	13	8	0	5			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:97019996G>T	ENST00000455200.1	+	9	1340	c.1045G>T	c.(1045-1047)Gac>Tac	p.D349Y	NCAPH_ENST00000240423.4_Missense_Mutation_p.D360Y|NCAPH_ENST00000427946.1_Missense_Mutation_p.D224Y			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	360					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TGACGAGAGTGACTGTGGAGA	0.512													False	0	False	2:97019996	0	T	97019996	G	T	97019996	3	4	6	1	0	0	0	0	1	0	0	0	10277	1290	45	3	1112	3	NCAPH	2	97019996	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	22331113	97019996	146179377	14	457											
TMEM37	140738	broad.mit.edu	37	chr2	120194962	120194962	+	Frame_Shift_Del	DEL	C	C	-													actgcctccttcctcctcttCctgaacgccatcagcggcct							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:120194962delC	ENST00000409826.1	+	2	581	c.555delC	c.(553-555)ttcfs	p.F185fs	TMEM37_ENST00000306406.4_Frame_Shift_Del_p.F173fs|TMEM37_ENST00000465296.1_3'UTR			Q8WXS4	CCGL_HUMAN	transmembrane protein 37	173						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TCCTCCTCTTCCTGAACGCCA	0.537													False	2	False	2:120194962	0	-	120194962	C	-	120194962	7	5	6	1	0	1	0	1	0	0	0	0	16240	854	30	0	525	0	TMEM37	2	120194962	Frame_Shift_Del	DEL	C	TCGA-2J-AABA-01A-21D-A40W-08	23174966	120194962	123004411	15	458											
NCKAP5	344148	broad.mit.edu	37	chr2	133541374	133541374	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcatagggtgagtgaagaTaggctttttgaaggccacag	16	5	0	4			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:133541374T>C	ENST00000409261.1	-	14	3383	c.3010A>G	c.(3010-3012)Atc>Gtc	p.I1004V	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.I1004V|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1004							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGAGTGAAGATAGGCTTTTTG	0.537													False	0	False	2:133541374	0	C	133541374	T	C	133541374	3	2	6	1	0	0	0	0	1	0	0	0	10291	1406	49	4	2747	4	NCKAP5	2	133541374	Missense_Mutation	SNP	T	TCGA-2J-AABA-01A-21D-A40W-08	13346412	133541374	109657999	16	459											
TTN	7273	broad.mit.edu	37	chr2	179431867	179431867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacaacagtccaggcaagtCgactggtttctcgcttttca	8	12	2	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:179431867C>T	ENST00000589042.1	-	326	79216	c.78992G>A	c.(78991-78993)cGa>cAa	p.R26331Q	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17458Q|TTN_ENST00000460472.2_Missense_Mutation_p.R17266Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24690Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23763Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17391Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24690	Ig-like 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGGCAAGTCGACTGGTTTC	0.413													False	0	False	2:179431867	0	T	179431867	C	T	179431867	3	4	6	1	0	0	0	0	1	0	0	0	16819	884	31	1	29135	1	TTN	2	179431867	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	45890493	179431867	63767506	17	460											
ACSL3	2181	broad.mit.edu	37	chr2	223782842	223782842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaggtgaccaacatcattaCtagtaaagaactcttacaaa	6	8	2	3			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr2:223782842C>A	ENST00000357430.3	+	6	1166	c.635C>A	c.(634-636)aCt>aAt	p.T212N	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T212N	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	212					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AACATCATTACTAGTAAAGAA	0.373			T	ETV1	prostate								False	0	False	2:223782842	0	A	223782842	C	A	223782842	3	1	6	1	0	0	0	0	1	0	0	0	178	565	20	3	645	3	ACSL3	2	223782842	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	44350975	223782842	19416531	18	461											
ZNF35	7584	broad.mit.edu	37	chr3	44700479	44700479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatatagccttaattctggCgctgttaaaaatccaaaaac	5	8	1	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:44700479C>T	ENST00000396056.2	+	4	859	c.624C>T	c.(622-624)ggC>ggT	p.G208G	ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Silent_p.G48G	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	208	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G208G(1)		large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TTAATTCTGGCGCTGTTAAAA	0.413													False	0	False	3:44700479	0	T	44700479	C	T	44700479	2	4	6	1	0	0	0	0	0	0	0	1	17945	755	27	1		1	ZNF35	3	44700479	Silent	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08		44700479	153321951	19	462											
MYL3	4634	broad.mit.edu	37	chr3	46902285	46902285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctcacacttgggtgtgCggtcgaacagcatgaaggct	12	10	2	1	rs139354105		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:46902285C>T	ENST00000395869.1	-	3	239	c.188G>A	c.(187-189)cGc>cAc	p.R63H	MYL3_ENST00000292327.4_Missense_Mutation_p.R63H			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	63	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CTTGGGTGTGCGGTCGAACAG	0.622													False	0	False	3:46902285	0	T	46902285	C	T	46902285	3	4	6	1	0	0	0	0	1	0	0	0	10115	768	27	1	415	1	MYL3	3	46902285	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	2201806	46902285	151120145	20	463											
IQCF2	389123	broad.mit.edu	37	chr3	51897313	51897313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccacaactgccagacctGcgctctcctccagggccact	8	18	1	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:51897313G>A	ENST00000333127.3	+	3	451	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	141										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCCAGACCTGCGCTCTCCTC	0.567													False	0	False	3:51897313	0	A	51897313	G	A	51897313	3	1	6	1	0	0	0	0	1	0	0	0	7858	1319	46	2	432	2	IQCF2	3	51897313	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	4995028	51897313	146125117	21	464											
ZBED2	79413	broad.mit.edu	37	chr3	111312977	111312977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcactaatctcttcctcCtccttcatctctaagtcccc	2	18	4	0	rs145211272		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:111312977C>T	ENST00000317012.4	-	2	1080	c.72G>A	c.(70-72)gaG>gaA	p.E24E	CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	24							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						TCTCTTCCTCCTCCTTCATCT	0.507													False	0	True	3:111312977	0	T	111312977	C	T	111312977	2	4	6	1	0	0	0	0	0	0	0	1	17602	680	24	2		2	ZBED2	3	111312977	Silent	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	59415664	111312977	86709453	22	465											
KLHL24	54800	broad.mit.edu	37	chr3	183368717	183368717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaatgcaaaaattttgcGttacagacttttgaggatgt	8	5	0	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr3:183368717G>A	ENST00000454652.2	+	4	959	c.573G>A	c.(571-573)gcG>gcA	p.A191A	KLHL24_ENST00000242810.6_Silent_p.A191A|KLHL24_ENST00000476808.1_Silent_p.A191A	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24		BACK.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAAATTTTGCGTTACAGACTT	0.368													False	0	False	3:183368717	0	A	183368717	G	A	183368717	2	1	6	1	0	0	0	0	0	0	0	1	8429	1132	40	1		1	KLHL24	3	183368717	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	72055740	183368717	14653713	23	466											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107417	6107417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcgcgcctcctcgcgcGcctcggtcagcagcgccgtc	12	21	1	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr4:6107417G>A	ENST00000409021.3	-	3	856	c.407C>T	c.(406-408)gCg>gTg	p.A136V	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.A136V|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.A136V|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000410077.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	136	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCCTCGCGCGCCTCGGTCAG	0.706													False	0	True	4:6107417	0	A	6107417	G	A	6107417	3	1	6	1	0	0	0	0	1	0	0	0	7990	1087	38	1	2239	1	JAKMIP1	4	6107417	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		6107417	185046859	24	467											
DMP1	1758	broad.mit.edu	37	chr4	88583927	88583927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggaagagagccaaaacGtagatggtcccagcagtgag	13	10	0	3	rs147275271	byFrequency	TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr4:88583927G>A	ENST00000339673.6	+	6	1096	c.997G>A	c.(997-999)Gta>Ata	p.V333I	DMP1_ENST00000282479.7_Missense_Mutation_p.V317I|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	333					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAGCCAAAACGTAGATGGTCC	0.547													False	0	False	4:88583927	0	A	88583927	G	A	88583927	3	1	6	1	0	0	0	0	1	0	0	0	4613	1145	40	1	1015	1	DMP1	4	88583927	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	82476510	88583927	102570349	25	468											
QRFPR	84109	broad.mit.edu	37	chr4	122258001	122258001	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacatgggtgatcctacgatGactgccaccagccagaccac	9	15	0	3			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr4:122258001G>A	ENST00000394427.2	-	3	933	c.522C>T	c.(520-522)gtC>gtT	p.V174V	QRFPR_ENST00000334383.5_Silent_p.V174V	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	174						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATCCTACGATGACTGCCACCA	0.413													False	0	False	4:122258001	0	A	122258001	G	A	122258001	2	1	6	1	0	0	0	0	0	0	0	1	12957	1277	45	2		2	QRFPR	4	122258001	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	33674074	122258001	68896275	26	469											
FBXW7	0	broad.mit.edu	37	chr4	153244139	153244139	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgaggctctgatccgcCacacaactcccccactcccc	6	19	1	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr4:153244139C>T	ENST00000281708.4	-	12	3247	c.2018G>A	c.(2017-2019)tGg>tAg	p.W673*	FBXW7_ENST00000263981.5_Nonsense_Mutation_p.W593*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.W673*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.W497*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.W673*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.W555*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	673					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTGATCCGCCACACAACTCC	0.498			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								False	0	True	4:153244139	0	T	153244139	C	T	153244139	4	4	6	1	0	0	0	0	0	1	0	0	5809	595	21	2	109	2	FBXW7	4	153244139	Nonsense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	30986138	153244139	37910137	27	470											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	6	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-2J-AABA-01A-21D-A40W-08		78610444	102304816	28	471											
CMYA5	202333	broad.mit.edu	37	chr5	79029066	79029066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaagcaagggtagaagAcaaacaagatcttttatttt	10	4	1	4			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr5:79029066A>G	ENST00000446378.2	+	2	4509	c.4478A>G	c.(4477-4479)gAc>gGc	p.D1493G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1493						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGGGTAGAAGACAAACAAGAT	0.398													False	0	True	5:79029066	0	G	79029066	A	G	79029066	3	3	6	1	0	0	0	0	1	0	0	0	3613	275	10	4	4484	4	CMYA5	5	79029066	Missense_Mutation	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	418622	79029066	101886194	29	472											
PCDHA2	0	broad.mit.edu	37	chr5	140176168	140176168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgagcgcgcgggatgCgggcgtgccgcctctgggca	19	13	1	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr5:140176168C>T	ENST00000526136.1	+	1	1619	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A540V|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A540V	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGATGCGGGCGTGCCG	0.677													False	0	True	5:140176168	0	T	140176168	C	T	140176168	3	4	6	1	0	0	0	0	1	0	0	0	11592	768	27	1	1621	1	PCDHA2	5	140176168	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	61147102	140176168	40739092	30	473											
SQSTM1	8878	broad.mit.edu	37	chr5	179247944	179247944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgccgctcgctatggcgtCgctcaccgtgaaggcctacc	11	17	1	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr5:179247944C>T	ENST00000389805.4	+	1	186	c.8C>T	c.(7-9)tCg>tTg	p.S3L	SQSTM1_ENST00000510187.1_Missense_Mutation_p.S3L|SQSTM1_ENST00000376929.3_Intron|SQSTM1_ENST00000402874.3_5'UTR	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	3	Interaction with LCK.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTATGGCGTCGCTCACCGTG	0.711													False	0	False	5:179247944	0	T	179247944	C	T	179247944	3	4	6	1	0	0	0	0	1	0	0	0	15212	893	31	1	10	1	SQSTM1	5	179247944	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	39071776	179247944	1667316	31	474											
LY86	9450	broad.mit.edu	37	chr6	6589102	6589102	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgctctaccagagttgCggtaagcccttgcagtacac	11	11	1	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:6589102C>T	ENST00000379953.2	+	2	487	c.135C>T	c.(133-135)tgC>tgT	p.C45C	LY86-AS1_ENST00000429345.1_RNA|LY86_ENST00000230568.4_Splice_Site_p.C45C|LY86-AS1_ENST00000435641.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	45					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					ACCAGAGTTGCGGTAAGCCCT	0.587													False	0	False	6:6589102	0	T	6589102	C	T	6589102	5	4	6	1	0	0	0	0	0	0	1	0	9163	782	27	1	137	1	LY86	6	6589102	Splice_Site	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08		6589102	164525965	32	475											
RREB1	6239	broad.mit.edu	37	chr6	7230223	7230223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccttcatgacagcgcccGgcggcaagaagacgcccgcc	13	16	1	3			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:7230223G>A	ENST00000379938.2	+	10	2428	c.1891G>A	c.(1891-1893)Ggc>Agc	p.G631S	RREB1_ENST00000334984.6_Missense_Mutation_p.G631S|RREB1_ENST00000349384.6_Missense_Mutation_p.G631S|RREB1_ENST00000379933.3_Missense_Mutation_p.G631S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	631					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GACAGCGCCCGGCGGCAAGAA	0.637													False	0	True	6:7230223	0	A	7230223	G	A	7230223	3	1	6	1	0	0	0	0	1	0	0	0	13758	1116	39	1	1917	1	RREB1	6	7230223	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	641121	7230223	163884844	33	476											
RNF8	9025	broad.mit.edu	37	chr6	37349011	37349011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatagaatgccccatttgtcGgaaggacattaagtccaaaa	9	8	0	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:37349011G>A	ENST00000373479.4	+	7	1515	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	RNF8_ENST00000469731.1_Intron	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	441					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CCCATTTGTCGGAAGGACATT	0.413													False	0	False	6:37349011	0	A	37349011	G	A	37349011	3	1	6	1	0	0	0	0	1	0	0	0	13579	1116	39	1	1348	1	RNF8	6	37349011	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	30118788	37349011	133766056	34	477											
GUCA1B	2979	broad.mit.edu	37	chr6	42152645	42152645	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcacccacttgtcccgacGggcaccttcaacaaactcgt	6	17	2	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:42152645G>T	ENST00000230361.3	-	4	606	c.511C>A	c.(511-513)Cgt>Agt	p.R171S		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	171	EF-hand 4.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			TTGTCCCGACGGGCACCTTCA	0.577													False	0	True	6:42152645	0	T	42152645	G	T	42152645	3	4	6	1	0	0	0	0	1	0	0	0	6936	1116	39	3	95	3	GUCA1B	6	42152645	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	4803634	42152645	128962422	35	478											
EPHA7	2045	broad.mit.edu	37	chr6	93967819	93967819	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatataaccaatatctacctCttgtaacaaccccttccaaa	2	13	2	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:93967819C>T	ENST00000369303.4	-	11	2292	c.2108G>A	c.(2107-2109)aGa>aAa	p.R703K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	703	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATATCTACCTCTTGTAACAAC	0.343													False	0	False	6:93967819	0	T	93967819	C	T	93967819	3	4	6	1	0	0	0	0	1	0	0	0	5204	913	32	2	916	2	EPHA7	6	93967819	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	51815174	93967819	77147248	36	479											
MLLT4	4301	broad.mit.edu	37	chr6	168299092	168299092	+	Frame_Shift_Del	DEL	G	G	-													ccagtcaggatcatgctcttGcaaaaagatctgtggatgga							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr6:168299092delG	ENST00000400822.3	+	11	1522	c.1522delG	c.(1522-1524)gcafs	p.A508fs	MLLT4_ENST00000366806.2_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.A493fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.A509fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	509					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCATGCTCTTGCAAAAAGATC	0.438			T	MLL	AL								False	1	False	6:168299092	0	-	168299092	G	-	168299092	7	5	6	1	0	1	0	1	0	0	0	0	9696	1319	46	0	1567	0	MLLT4	6	168299092	Frame_Shift_Del	DEL	G	TCGA-2J-AABA-01A-21D-A40W-08	74331273	168299092	2815975	37	480											
INTS1	26173	broad.mit.edu	37	chr7	1522220	1522220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctcagaacggatcatgCgcagcttcagccagtcagga	11	13	4	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:1522220C>T	ENST00000389470.4	-	28	4150	c.4151G>A	c.(4150-4152)cGc>cAc	p.R1384H	INTS1_ENST00000404767.3_Missense_Mutation_p.R1222H			Q8N201	INT1_HUMAN	integrator complex subunit 1	1222					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACGGATCATGCGCAGCTTCAG	0.667													False	0	False	7:1522220	0	T	1522220	C	T	1522220	3	4	6	1	0	0	0	0	1	0	0	0	7825	768	27	1	2995	1	INTS1	7	1522220	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08		1522220	157616443	38	481											
HOXA4	3201	broad.mit.edu	37	chr7	27169037	27169037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaccagatcttgacctggCgctcagacaaacagagcgtg	11	11	2	4			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:27169037C>T	ENST00000360046.5	-	2	835	c.770G>A	c.(769-771)cGc>cAc	p.R257H	RP1-170O19.22_ENST00000467897.2_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.R257H|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	257						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CTTGACCTGGCGCTCAGACAA	0.572													False	0	False	7:27169037	0	T	27169037	C	T	27169037	3	4	6	1	0	0	0	0	1	0	0	0	7341	768	27	1	196	1	HOXA4	7	27169037	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	25646817	27169037	131969626	39	482											
HECW1	23072	broad.mit.edu	37	chr7	43590047	43590047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttttcctacaaggtcAcggaaagggagttgaagtct	11	7	3	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:43590047A>G	ENST00000395891.2	+	27	4857	c.4252A>G	c.(4252-4254)Acg>Gcg	p.T1418A	HECW1_ENST00000453890.1_Missense_Mutation_p.T1384A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTACAAGGTCACGGAAAGGGA	0.507													False	0	False	7:43590047	0	G	43590047	A	G	43590047	3	3	6	1	0	0	0	0	1	0	0	0	7089	159	6	4	4350	4	HECW1	7	43590047	Missense_Mutation	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	16421010	43590047	115548616	40	483											
BLVRA	644	broad.mit.edu	37	chr7	43810766	43810766	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaccaagatgaatgcAgaggtgagttctttacaaag	12	5	1	5			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr7:43810766A>T	ENST00000402924.1	+	3	172	c.9A>T	c.(7-9)gcA>gcT	p.A3A	BLVRA_ENST00000265523.4_Silent_p.A3A	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	3			A -> T (in dbSNP:rs699512).		heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	AGATGAATGCAGAGGTGAGTT	0.463													False	0	False	7:43810766	0	T	43810766	A	T	43810766	2	4	6	1	0	0	0	0	0	0	0	1	1456	175	7	5		5	BLVRA	7	43810766	Silent	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	220719	43810766	115327897	41	484											
WRN	7486	broad.mit.edu	37	chr8	30924630	30924630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgaaagacaagtctatcCgctgtagcaattggagtaaa	9	8	1	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr8:30924630C>T	ENST00000298139.5	+	6	835	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	196	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAAGTCTATCCGCTGTAGCAA	0.413			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				False	0	False	8:30924630	0	T	30924630	C	T	30924630	3	4	6	1	0	0	0	0	1	0	0	0	17486	652	23	1	604	1	WRN	8	30924630	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08		30924630	115439392	42	485											
RIMS2	9699	broad.mit.edu	37	chr8	105263381	105263381	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaagagagtccacaaggaaAagttttacaggtatctactt	9	7	1	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr8:105263381A>C	ENST00000507740.1	+	21	3499	c.3263A>C	c.(3262-3264)aAa>aCa	p.K1088T	RIMS2_ENST00000339750.2_Missense_Mutation_p.K210T|RIMS2_ENST00000262231.10_Missense_Mutation_p.K1113T|RIMS2_ENST00000436393.2_Missense_Mutation_p.K1292T|RIMS2_ENST00000406091.3_Missense_Mutation_p.K1274T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1336					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCACAAGGAAAAGTTTTACAG	0.368										HNSCC(12;0.0054)			False	0	True	8:105263381	0	C	105263381	A	C	105263381	3	2	6	1	0	0	0	0	1	0	0	0	13447	14	1	4	4107	4	RIMS2	8	105263381	Missense_Mutation	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	74338751	105263381	41100641	43	486											
NEBL	10529	broad.mit.edu	37	chr10	21158753	21158753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtgtgggtgtcctgcacGtctttcctataagaaatctg	10	9	2	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr10:21158753G>A	ENST00000377122.4	-	6	894	c.498C>T	c.(496-498)gaC>gaT	p.D166D	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Silent_p.D166D	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	166					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCCTGCACGTCTTTCCTAT	0.358													False	0	False	10:21158753	0	A	21158753	G	A	21158753	2	1	6	1	0	0	0	0	0	0	0	1	10371	1136	40	1		1	NEBL	10	21158753	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		21158753	114375994	44	487											
MUC2	4583	broad.mit.edu	37	chr11	1092201	1092201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacatcgagtgcaggtcGgtcaaggatccccacctcag	13	12	2	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:1092201G>A	ENST00000441003.2	+	30	4047	c.4020G>A	c.(4018-4020)tcG>tcA	p.S1340S	MUC2_ENST00000361558.6_Silent_p.S6S|MUC2_ENST00000359061.5_Silent_p.S1341S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1340						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGTGCAGGTCGGTCAAGGATC	0.557													False	0	True	11:1092201	0	A	1092201	G	A	1092201	2	1	6	1	0	0	0	0	0	0	0	1	10042	1103	39	1		1	MUC2	11	1092201	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		1092201	133914315	45	488											
MUC5B	727897	broad.mit.edu	37	chr11	1268340	1268340	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accaacccctcctcaactccAgggacaactcccatcccccc	3	23	1	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:1268340A>T	ENST00000447027.1	+	31	10297	c.10239A>T	c.(10237-10239)ccA>ccT	p.P3413P	MUC5B_ENST00000529681.1_Silent_p.P3410P|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3410	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cctcaactccagggacaactc	0.637													False	0	True	11:1268340	0	T	1268340	A	T	1268340	2	4	6	1	0	0	0	0	0	0	0	1	10046	175	7	5		5	MUC5B	11	1268340	Silent	SNP	A	TCGA-2J-AABA-01A-21D-A40W-08	176139	1268340	133738176	46	489											
ACCS	84680	broad.mit.edu	37	chr11	44089316	44089316	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaccagaagctgccagagCtccgtggagtgggtgatcct	15	10	0	3			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:44089316C>G	ENST00000263776.8	+	2	573	c.139C>G	c.(139-141)Ctc>Gtc	p.L47V	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Missense_Mutation_p.L47V	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	47							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GCTGCCAGAGCTCCGTGGAGT	0.552													False	0	False	11:44089316	0	G	44089316	C	G	44089316	3	3	6	1	0	0	0	0	1	0	0	0	133	797	28	5	141	5	ACCS	11	44089316	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	42820976	44089316	90917200	47	490											
STT3A	3703	broad.mit.edu	37	chr11	125476284	125476284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggccgtttctctcaccGgatctatgtggcctactgta	9	13	3	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr11:125476284G>A	ENST00000392708.4	+	8	863	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	STT3A_ENST00000531491.1_Missense_Mutation_p.R143Q|STT3A_ENST00000529196.1_Missense_Mutation_p.R235Q	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	235					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCTCTCACCGGATCTATGTG	0.493													False	0	False	11:125476284	0	A	125476284	G	A	125476284	3	1	6	1	0	0	0	0	1	0	0	0	15415	1116	39	1	730	1	STT3A	11	125476284	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	81386968	125476284	9530232	48	491											
PAWR	5074	broad.mit.edu	37	chr12	79990331	79990331	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttttccagtgtgctacttGaaaccagagtacctgaaaca	7	10	1	3			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr12:79990331G>A	ENST00000328827.4	-	5	1163	c.791C>T	c.(790-792)tCa>tTa	p.S264L		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	264					actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGTGCTACTTGAAACCAGAGT	0.323													False	0	True	12:79990331	0	A	79990331	G	A	79990331	3	1	6	1	0	0	0	0	1	0	0	0	11545	1294	45	2	243	2	PAWR	12	79990331	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		79990331	53861564	49	492											
SLITRK5	26050	broad.mit.edu	37	chr13	88329453	88329453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcgctgagaccgacatgCgctccattaagtcggagctg	11	11	0	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr13:88329453C>T	ENST00000325089.6	+	2	2029	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	604	LRRCT 2.					integral to membrane		p.R604C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACCGACATGCGCTCCATTAA	0.567													False	0	False	13:88329453	0	T	88329453	C	T	88329453	3	4	6	1	0	0	0	0	1	0	0	0	14826	768	27	1	1812	1	SLITRK5	13	88329453	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08		88329453	26840425	50	493											
CUL4A	8451	broad.mit.edu	37	chr13	113907464	113907464	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtcgaaaacttcagtgGcaaactactttgggacatgc	11	8	1	0			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr13:113907464G>A	ENST00000451881.1	+	16	1656	c.1407G>A	c.(1405-1407)tgG>tgA	p.W469*	CUL4A_ENST00000375441.3_Nonsense_Mutation_p.W469*|CUL4A_ENST00000326335.4_Nonsense_Mutation_p.W469*|CUL4A_ENST00000375440.4_Nonsense_Mutation_p.W569*	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	569					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AACTTCAGTGGCAAACTACTT	0.299													False	0	False	13:113907464	0	A	113907464	G	A	113907464	4	1	6	1	0	0	0	0	0	1	0	0	4082	1212	42	2	1769	2	CUL4A	13	113907464	Nonsense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	25578011	113907464	1262414	51	494											
PARP6	56965	broad.mit.edu	37	chr15	72557486	72557486	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaataggttctgtccggagGaccttccaggctgtagagac	12	10	1	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr15:72557486G>A	ENST00000569795.1	-	7	951	c.264C>T	c.(262-264)gtC>gtT	p.V88V	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Silent_p.V88V|PARP6_ENST00000260376.7_Silent_p.V88V			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	88							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CTGTCCGGAGGACCTTCCAGG	0.473													False	0	False	15:72557486	0	A	72557486	G	A	72557486	2	1	6	1	0	0	0	0	0	0	0	1	11532	1161	41	2		2	PARP6	15	72557486	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		72557486	29973906	52	495											
UBB	7314	broad.mit.edu	37	chr17	16285542	16285542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgaaggccaagatccaGgataaagaaggcatccctcc	10	10	0	3	rs17052364		TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr17:16285542G>A	ENST00000302182.3	+	2	713	c.321G>A	c.(319-321)caG>caA	p.Q107Q	UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.Q107Q|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.Q107Q|UBB_ENST00000535788.1_Intron	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	107	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.Q107Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CCAAGATCCAGGATAAAGAAG	0.537													False	0	False	17:16285542	0	A	16285542	G	A	16285542	2	1	6	1	0	0	0	0	0	0	0	1	16925	991	35	2		2	UBB	17	16285542	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		16285542	64909668	53	496											
NF1	4763	broad.mit.edu	37	chr17	29559101	29559101	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttttcagagatttggacCaggcaagcatggaagcagta	11	6	1	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr17:29559101C>T	ENST00000358273.4	+	25	3591	c.3208C>T	c.(3208-3210)Cag>Tag	p.Q1070*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1070*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1070					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGATTTGGACCAGGCAAGCAT	0.373			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			False	0	False	17:29559101	0	T	29559101	C	T	29559101	4	4	6	1	0	0	0	0	0	1	0	0	10424	595	21	2	3367	2	NF1	17	29559101	Nonsense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	13273559	29559101	51636109	54	497											
SMAD4	4089	broad.mit.edu	37	chr18	48604705	48604705	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagttttgtgaaaggctgGggaccggattacccaagaca	13	7	0	3			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr18:48604705G>A	ENST00000342988.3	+	12	2065	c.1527G>A	c.(1525-1527)tgG>tgA	p.W509*	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.W413*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.W509*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	509	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.W509*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGAAAGGCTGGGGACCGGATT	0.473													False	0	True	18:48604705	0	A	48604705	G	A	48604705	4	1	6	1	0	0	0	0	0	1	0	0	14840	1241	43	2	1569	2	SMAD4	18	48604705	Nonsense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		48604705	29472543	55	498											
PSMD8	5714	broad.mit.edu	37	chr19	38874009	38874009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcatcgagtatgcccgGcagctggagatgatcgtctg	14	10	2	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:38874009G>A	ENST00000215071.4	+	7	1098	c.1032G>A	c.(1030-1032)cgG>cgA	p.R344R	PSMD8_ENST00000602911.1_Silent_p.R281R	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	344					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGTATGCCCGGCAGCTGGAGA	0.562													False	0	False	19:38874009	0	A	38874009	G	A	38874009	2	1	6	1	0	0	0	0	0	0	0	1	12780	1190	42	2		2	PSMD8	19	38874009	Silent	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08		38874009	20254974	56	499											
PSG7	5676	broad.mit.edu	37	chr19	43430101	43430101	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccggtgggttagagtccGcaaagcaggacaagtagagg	17	7	0	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:43430101G>A	ENST00000446844.3	-	0	1156				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GTTAGAGTCCGCAAAGCAGGA	0.448													False	0	False	19:43430101	0	A	43430101	G	A	43430101	1	1	6	0	1	0	0	0	0	0	0	0	12736	1087	38	1		1	PSG7	19	43430101	RNA	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	4556092	43430101	15698882	57	500											
ZNF28	7576	broad.mit.edu	37	chr19	53304471	53304471	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggaaagatttttctctcatGtgtacattccgtttttgtgt	8	6	2	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:53304471G>C	ENST00000438150.2	-	2	1361	c.468C>G	c.(466-468)caC>caG	p.H156Q	ZNF28_ENST00000360272.4_Missense_Mutation_p.H156Q|ZNF28_ENST00000414252.2_Missense_Mutation_p.H156Q|ZNF28_ENST00000457749.2_Missense_Mutation_p.H209Q			P17035	ZNF28_HUMAN	zinc finger protein 28	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTTCTCTCATGTGTACATTCC	0.333													False	0	False	19:53304471	0	C	53304471	G	C	53304471	3	2	6	1	0	0	0	0	1	0	0	0	17896	1368	48	5	1533	5	ZNF28	19	53304471	Missense_Mutation	SNP	G	TCGA-2J-AABA-01A-21D-A40W-08	9874370	53304471	5824512	58	501											
ZNF761	388561	broad.mit.edu	37	chr19	53960290	53960290	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcatgattcgcacctggCacaacatgctagaattcaca	9	11	1	2			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr19:53960290C>T	ENST00000454407.1	+	0	2982							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCGCACCTGGCACAACATGCT	0.438													False	0	False	19:53960290	0	T	53960290	C	T	53960290	1	4	6	0	1	0	0	0	0	0	0	0	18218	725	25	2		2	ZNF761	19	53960290	RNA	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08	655819	53960290	5168693	59	502											
PMEPA1	56937	broad.mit.edu	37	chr20	56227291	56227309	+	Frame_Shift_Del	DEL	GCCCCTCCATGCGCCCGCC	GCCCCTCCATGCGCCCGCC	-													ctcgctgtaggtgggcggcgGcccctccatgcgcccgccgc							TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	GCCCCTCCATGCGCCCGCC	GCCCCTCCATGCGCCCGCC	-	-	GCCCCTCCATGCGCCCGCC	GCCCCTCCATGCGCCCGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr20:56227291_56227309delGCCCCTCCATGCGCCCGCC	ENST00000341744.3	-	4	983_1001	c.664_682delGGCGGGCGCATGGAGGGGC	c.(664-684)ggcgggcgcatggaggggccgfs	p.GGRMEGP222fs	PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.GGRMEGP172fs|PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.GGRMEGP172fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.GGRMEGP172fs|PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.GGRMEGP187fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	222					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GTGGGCGGCGGCCCCTCCATGCGCCCGCCGCTGCCGTAG	0.694													False	1	False	20:56227291	0	-	56227309	GCCCCTCCATGCGCCCGCC	-	56227291	7	5	6	1	0	1	0	1	0	0	0	0	12201	1203	42	0	185	0	PMEPA1	20	56227291	Frame_Shift_Del	DEL	GCCCCTCCATGCGCCCGCC	TCGA-2J-AABA-01A-21D-A40W-08		56227291	6798229	60	503											
SGSM1	129049	broad.mit.edu	37	chr22	25264736	25264736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaagccctcagggttctgCcgagtccacatcttcagaca	10	14	4	1			TCGA-2J-AABA-01A-21D-A40W-08	TCGA-2J-AABA-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	61e9c5f2-e782-404f-92f1-ecc78d28b285	702e85b0-5c6e-4945-a20a-37568587f243	g.chr22:25264736C>T	ENST00000400358.4	+	12	1262	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	SGSM1_ENST00000400359.4_Missense_Mutation_p.A402V	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	402						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAGGGTTCTGCCGAGTCCACA	0.512													False	0	False	22:25264736	0	T	25264736	C	T	25264736	3	4	6	1	0	0	0	0	1	0	0	0	14303	739	26	2	1251	2	SGSM1	22	25264736	Missense_Mutation	SNP	C	TCGA-2J-AABA-01A-21D-A40W-08		25264736	26039830	61	504											
MED18	54797	broad.mit.edu	37	chr1	28661125	28661125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgcgctacctgggacagCcagaaatgggagacaagaac	12	10	1	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:28661125C>T	ENST00000373842.4	+	3	480	c.271C>T	c.(271-273)Cca>Tca	p.P91S	MED18_ENST00000398997.2_Missense_Mutation_p.P91S|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	91					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGGACAGCCAGAAATGGG	0.582													False	0	False	1:28661125	0	T	28661125	C	T	28661125	3	4	7	1	0	0	0	0	1	0	0	0	9503	739	26	2	277	2	MED18	1	28661125	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		28661125	220589496	1	505											
INPP5B	3633	broad.mit.edu	37	chr1	38354008	38354008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttacattgtatgttcccGcaaaaaacctgtcaccaaag	5	11	1	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:38354008G>A	ENST00000373023.2	-	10	1139	c.1046C>T	c.(1045-1047)gCg>gTg	p.A349V	INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373026.1_Missense_Mutation_p.A349V|INPP5B_ENST00000373027.1_Missense_Mutation_p.A105V|INPP5B_ENST00000458109.2_Missense_Mutation_p.A32V|INPP5B_ENST00000373024.3_Missense_Mutation_p.A269V	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	349					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTATGTTCCCGCAAAAAACCT	0.458													False	0	True	1:38354008	0	A	38354008	G	A	38354008	3	1	7	1	0	0	0	0	1	0	0	0	7805	1087	38	1	1995	1	INPP5B	1	38354008	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	9692883	38354008	210896613	2	506											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145281517	145281517	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcaatgagtgtgacatTccaggacactgccagcatgg	12	9	1	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:145281517T>C	ENST00000369340.3	+	5	891	c.447T>C	c.(445-447)atT>atC	p.I149I	NOTCH2NL_ENST00000362074.6_Silent_p.I149I|NOTCH2NL_ENST00000344859.3_Silent_p.I149I|RP11-458D21.5_ENST00000468030.1_Silent_p.I149I			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	149	EGF-like 5; calcium-binding (Potential).				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						AGTGTGACATTCCAGGACACT	0.552													False	0	False	1:145281517	0	C	145281517	T	C	145281517	2	2	7	1	0	0	0	0	0	0	0	1	10617	1771	62	4		4	NOTCH2NL	1	145281517	Silent	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08	106927509	145281517	103969104	3	507											
CENPF	1063	broad.mit.edu	37	chr1	214832306	214832306	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agttagcgctatccccactgAgtctcggcaaagaaaatctt	8	11	2	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:214832306A>T	ENST00000366955.3	+	19	9244	c.9076A>T	c.(9076-9078)Agt>Tgt	p.S3026C		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3122	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATCCCCACTGAGTCTCGGCAA	0.517											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:214832306	0	T	214832306	A	T	214832306	3	4	7	1	0	0	0	0	1	0	0	0	3254	304	11	5	9146	5	CENPF	1	214832306	Missense_Mutation	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	69550789	214832306	34418315	4	508											
AKT3	10000	broad.mit.edu	37	chr1	243778456	243778456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcagttagagtgtgtgccActtcatcctacaaaagaaaa	7	8	2	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr1:243778456A>G	ENST00000366539.1	-	7	769	c.569T>C	c.(568-570)gTg>gCg	p.V190A	AKT3_ENST00000336199.5_Missense_Mutation_p.V190A|AKT3_ENST00000263826.5_Missense_Mutation_p.V190A|AKT3_ENST00000366540.1_Missense_Mutation_p.V190A			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	190	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AGTGTGTGCCACTTCATCCTA	0.328													False	0	False	1:243778456	0	G	243778456	A	G	243778456	3	3	7	1	0	0	0	0	1	0	0	0	481	159	6	4	950	4	AKT3	1	243778456	Missense_Mutation	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	28946150	243778456	5472165	5	509											
NT5C1B	93034	broad.mit.edu	37	chr2	18767583	18767583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttggtggatgggctccgGgatattctagaccattgact	13	9	1	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:18767583G>A	ENST00000304081.4	-	3	295	c.195C>T	c.(193-195)tcC>tcT	p.S65S	NT5C1B_ENST00000600945.1_Silent_p.S125S|NT5C1B-RDH14_ENST00000532967.1_Silent_p.S125S|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000359846.2_Silent_p.S125S	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATGGGCTCCGGGATATTCTAG	0.488													False	0	True	2:18767583	0	A	18767583	G	A	18767583	2	1	7	1	0	0	0	0	0	0	0	1	10754	1219	43	2		2	NT5C1B	2	18767583	Silent	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08		18767583	224431790	6	510											
SEMA4C	54910	broad.mit.edu	37	chr2	97527143	97527143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagaggtggcagggcagCaccaggtctgtgcccgccac	17	12	1	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:97527143C>T	ENST00000305476.5	-	15	1854	c.1722G>A	c.(1720-1722)gtG>gtA	p.V574V		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	574	Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGCAGGGCAGCACCAGGTCTG	0.627													False	0	False	2:97527143	0	T	97527143	C	T	97527143	2	4	7	1	0	0	0	0	0	0	0	1	14114	697	25	2		2	SEMA4C	2	97527143	Silent	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	78759560	97527143	145672230	7	511											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	7	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-2J-AABE-01A-12D-A40W-08	320222	97847365	145352008	8	512											
LCT	3938	broad.mit.edu	37	chr2	136567449	136567449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgacttgctgctgtcgCtgaagttgacgtggtgcagg	14	9	0	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:136567449C>T	ENST00000264162.2	-	8	2478	c.2468G>A	c.(2467-2469)aGc>aAc	p.S823N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	823	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTGCTGTCGCTGAAGTTGAC	0.502													False	0	False	2:136567449	0	T	136567449	C	T	136567449	3	4	7	1	0	0	0	0	1	0	0	0	8744	797	28	2	3355	2	LCT	2	136567449	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	38720084	136567449	106631924	9	513											
LRP2	4036	broad.mit.edu	37	chr2	170090020	170090020	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgccacttgttggctcGcataacccgacgagtagcac	9	14	0	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr2:170090020G>A	ENST00000263816.3	-	30	5284	c.4999C>T	c.(4999-5001)Cga>Tga	p.R1667*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1667					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTGTTGGCTCGCATAACCCGA	0.478													False	0	False	2:170090020	0	A	170090020	G	A	170090020	4	1	7	1	0	0	0	0	0	1	0	0	9018	1095	38	1	9168	1	LRP2	2	170090020	Nonsense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	33522571	170090020	73109353	10	514											
NUP210	23225	broad.mit.edu	37	chr3	13401880	13401880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagtgtcctcagcggtgaCgttctggaagaatttggacg	14	8	3	2	rs149471357		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:13401880C>T	ENST00000254508.5	-	15	2126	c.2044G>A	c.(2044-2046)Gtc>Atc	p.V682I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	682					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCAGCGGTGACGTTCTGGAAG	0.557													False	0	False	3:13401880	0	T	13401880	C	T	13401880	3	4	7	1	0	0	0	0	1	0	0	0	10828	536	19	1	3723	1	NUP210	3	13401880	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		13401880	184620550	11	515											
CISH	1154	broad.mit.edu	37	chr3	50645400	50645400	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caagcagttggagtccagacGgaagctggagtcggcatact	14	9	0	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:50645400G>C	ENST00000443053.2	-	4	693	c.466C>G	c.(466-468)Cgt>Ggt	p.R156G	CISH_ENST00000348721.3_Missense_Mutation_p.R139G	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	139	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GAGTCCAGACGGAAGCTGGAG	0.582													False	0	False	3:50645400	0	C	50645400	G	C	50645400	3	2	7	1	0	0	0	0	1	0	0	0	3460	1116	39	5	365	5	CISH	3	50645400	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	37243520	50645400	147377030	12	516											
DNAH1	25981	broad.mit.edu	37	chr3	52388864	52388864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccccgaccccaggcactGgacaagatggagaaggagtg	14	11	0	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:52388864G>A	ENST00000420323.2	+	21	3747	c.3486G>A	c.(3484-3486)ctG>ctA	p.L1162L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1162	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCAGGCACTGGACAAGATGG	0.612													False	0	False	3:52388864	0	A	52388864	G	A	52388864	2	1	7	1	0	0	0	0	0	0	0	1	4627	1335	47	2		2	DNAH1	3	52388864	Silent	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	1743464	52388864	145633566	13	517											
GNL3	26354	broad.mit.edu	37	chr3	52728222	52728222	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatataggtgaacagtctacAaggtcttttatcttggataa	8	5	3	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:52728222A>G	ENST00000394799.2	+	15	1755	c.1545A>G	c.(1543-1545)acA>acG	p.T515T	GNL3_ENST00000418458.1_Silent_p.T527T	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	527	Acidic (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AACAGTCTACAAGGTCTTTTA	0.333													False	0	False	3:52728222	0	G	52728222	A	G	52728222	2	3	7	1	0	0	0	0	0	0	0	1	6582	117	5	4		4	GNL3	3	52728222	Silent	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	339358	52728222	145294208	14	518											
NEK4	6787	broad.mit.edu	37	chr3	52778267	52778267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactttacctgaagaggacaTttcttcctgtgactgcttta	7	9	1	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:52778267T>C	ENST00000233027.5	-	11	2084	c.1882A>G	c.(1882-1884)Atg>Gtg	p.M628V	NEK4_ENST00000383721.4_Missense_Mutation_p.M582V|NEK4_ENST00000535191.1_Missense_Mutation_p.M539V	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	628					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GAAGAGGACATTTCTTCCTGT	0.418													False	0	True	3:52778267	0	C	52778267	T	C	52778267	3	2	7	1	0	0	0	0	1	0	0	0	10394	1493	52	4	667	4	NEK4	3	52778267	Missense_Mutation	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08	50045	52778267	145244163	15	519											
ABHD6	57406	broad.mit.edu	37	chr3	58270837	58270837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggccttgtcgatgtccGcatccctcataacaacttct	7	14	2	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:58270837G>A	ENST00000478253.1	+	8	1208	c.707G>A	c.(706-708)cGc>cAc	p.R236H	ABHD6_ENST00000295962.4_Missense_Mutation_p.R236H			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	236						integral to membrane	acylglycerol lipase activity	p.R236H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GTCGATGTCCGCATCCCTCAT	0.443													False	0	False	3:58270837	0	A	58270837	G	A	58270837	3	1	7	1	0	0	0	0	1	0	0	0	86	1087	38	1	729	1	ABHD6	3	58270837	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	5492570	58270837	139751593	16	520											
PLS1	5357	broad.mit.edu	37	chr3	142396872	142396872	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attattctcattttctctttAgcaaaatgatcaacttatct	2	8	4	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr3:142396872A>T	ENST00000337777.3	+	6	710		c.e6-1		PLS1_ENST00000497002.1_Splice_Site|PLS1_ENST00000457734.2_Splice_Site	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1							cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TTTTCTCTTTAGCAAAATGAT	0.274													False	0	True	3:142396872	0	T	142396872	A	T	142396872	5	4	7	1	0	0	0	0	0	0	1	0	12176	434	15	5	514	5	PLS1	3	142396872	Splice_Site	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	84126035	142396872	55625558	17	521											
TBC1D19	55296	broad.mit.edu	37	chr4	26756566	26756566	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttctgtttgctactgtcacCtgatcttcttcacagtcact	5	12	6	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:26756566C>G	ENST00000264866.4	+	21	1856	c.1578C>G	c.(1576-1578)acC>acG	p.T526T	TBC1D19_ENST00000511789.1_Silent_p.T461T	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	526						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTACTGTCACCTGATCTTCTT	0.323													False	0	False	4:26756566	0	G	26756566	C	G	26756566	2	3	7	1	0	0	0	0	0	0	0	1	15689	668	24	5		5	TBC1D19	4	26756566	Silent	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		26756566	164397710	18	522											
KIAA1211	57482	broad.mit.edu	37	chr4	57182165	57182165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggatagcaaagccagacCctgtgatgccaggtggagag	15	9	0	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:57182165C>T	ENST00000504228.1	+	6	2602	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.P833S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P826S			Q6ZU35	K1211_HUMAN	KIAA1211	833										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAAGCCAGACCCTGTGATGCC	0.532													False	0	True	4:57182165	0	T	57182165	C	T	57182165	3	4	7	1	0	0	0	0	1	0	0	0	8265	623	22	2	2515	2	KIAA1211	4	57182165	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	30425599	57182165	133972111	19	523											
SPINK2	6691	broad.mit.edu	37	chr4	57676313	57676313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaactgctccatcagcaggGtccatttcgaatgattttaa	7	9	1	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:57676313G>A	ENST00000506738.1	-	4	476	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	SPINK2_ENST00000248701.4_Missense_Mutation_p.P83S|SPINK2_ENST00000504762.1_Missense_Mutation_p.P118S	NM_001271718.1	NP_001258647.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	83						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					CATCAGCAGGGTCCATTTCGA	0.368													False	0	True	4:57676313	0	A	57676313	G	A	57676313	3	1	7	1	0	0	0	0	1	0	0	0	15142	1261	44	2	11	2	SPINK2	4	57676313	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	494148	57676313	133477963	20	524											
UGT2B15	7366	broad.mit.edu	37	chr4	69533868	69533868	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggttcgaatgagccacatttCagctttccccattgtctcaa	7	12	2	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:69533868C>G	ENST00000338206.5	-	2	772	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	255					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGCCACATTTCAGCTTTCCCC	0.378													False	0	True	4:69533868	0	G	69533868	C	G	69533868	3	3	7	1	0	0	0	0	1	0	0	0	17042	835	29	5	2466	5	UGT2B15	4	69533868	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	11857555	69533868	121620408	21	525											
UGT2B10	7365	broad.mit.edu	37	chr4	69683833	69683833	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttaaatttcctcatccaTtcttaccaaatgttgatttt	2	8	2	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr4:69683833T>C	ENST00000265403.7	+	2	832	c.805T>C	c.(805-807)Ttc>Ctc	p.F269L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	269					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCCTCATCCATTCTTACCAAA	0.388													False	0	False	4:69683833	0	C	69683833	T	C	69683833	3	2	7	1	0	0	0	0	1	0	0	0	17040	1493	52	4	811	4	UGT2B10	4	69683833	Missense_Mutation	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08	149965	69683833	121470443	22	526											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	7	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-2J-AABE-01A-12D-A40W-08		78610444	102304816	23	527											
PCDHB7	0	broad.mit.edu	37	chr5	140554541	140554541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtgctcctgttcgtggcgGtgcggctgtgcaggaggagc	19	10	0	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:140554541G>T	ENST00000231137.3	+	1	2299	c.2125G>T	c.(2125-2127)Gtg>Ttg	p.V709L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		709					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTGGCGGTGCGGCTGTG	0.697													False	0	False	5:140554541	0	T	140554541	G	T	140554541	3	4	7	1	0	0	0	0	1	0	0	0	11615	1261	44	3	2127	3	PCDHB7	5	140554541	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	61944097	140554541	40360719	24	528			1	1		2	2	12	N	G_C	2.274115e-05
PCDHB7	0	broad.mit.edu	37	chr5	140554552	140554552	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtggcggtgcggctgtgCaggaggagcagggcggcccc	20	11	0	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:140554552C>G	ENST00000231137.3	+	1	2310	c.2136C>G	c.(2134-2136)tgC>tgG	p.C712W		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		712					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGGCTGTGCAGGAGGAGCA	0.672													False	0	False	5:140554552	0	G	140554552	C	G	140554552	3	3	7	1	0	0	0	0	1	0	0	0	11615	718	25	5	2138	5	PCDHB7	5	140554552	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	11	140554552	40360708	25	529			1	1		2	2	12	N	G_C	2.274115e-05
PCDHGA1	0	broad.mit.edu	37	chr5	140711696	140711696	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccacgacttggacagcaAtgagaatgcacaaatcactt	9	11	1	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr5:140711696A>G	ENST00000517417.1	+	1	1445	c.1445A>G	c.(1444-1446)aAt>aGt	p.N482S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.N482S	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGACAGCAATGAGAATGCA	0.532													False	0	False	5:140711696	0	G	140711696	A	G	140711696	3	3	7	1	0	0	0	0	1	0	0	0	11618	101	4	4	1447	4	PCDHGA1	5	140711696	Missense_Mutation	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	157144	140711696	40203564	26	530											
HIST1H1B	3009	broad.mit.edu	37	chr6	27835072	27835074	+	In_Frame_Del	DEL	TTC	TTC	-													ccagcttaatgcggctgttaTtcttctccacgtcgtagcca							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	TTC	TTC	-	-	TTC	TTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:27835072_27835074delTTC	ENST00000331442.3	-	1	285_287	c.234_236delGAA	c.(232-237)aagaat>aat	p.K78del		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	78	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCGGCTGTTATTCTTCTCCACGT	0.557													False	2	False	6:27835072	0	-	27835074	TTC	-	27835072	7	5	7	1	0	1	0	1	0	0	0	0	7170	1493	52	0	448	0	HIST1H1B	6	27835072	In_Frame_Del	DEL	TTC	TCGA-2J-AABE-01A-12D-A40W-08		27835072	143279995	27	531											
PKHD1	5314	broad.mit.edu	37	chr6	51921495	51921495	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgaagccacggacagcaCctcgttcaaatccaagccgg	10	13	1	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:51921495C>T	ENST00000371117.3	-	18	1969		c.e18+1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACGGACAGCACCTCGTTCAAA	0.403													False	0	False	6:51921495	0	T	51921495	C	T	51921495	5	4	7	1	0	0	0	0	0	0	1	0	12040	521	18	2	10769	2	PKHD1	6	51921495	Splice_Site	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	24086423	51921495	119193572	28	532											
PHIP	55023	broad.mit.edu	37	chr6	79655783	79655783	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctttgcagctgaagaagtaGatggttgctcagtgacaact	11	7	2	4			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:79655783G>A	ENST00000275034.4	-	38	4732	c.4565C>T	c.(4564-4566)tCt>tTt	p.S1522F	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1522					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGAAGAAGTAGATGGTTGCTC	0.388													False	0	False	6:79655783	0	A	79655783	G	A	79655783	3	1	7	1	0	0	0	0	1	0	0	0	11911	942	33	2	912	2	PHIP	6	79655783	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	27734288	79655783	91459284	29	533											
RARS2	57038	broad.mit.edu	37	chr6	88299660	88299660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggcaagcaatagcgcggcGaaagccgcacgccatgtcca	12	14	0	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:88299660G>A	ENST00000369536.5	-	1	61	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	6					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	p.R6C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATAGCGCGGCGAAAGCCGCAC	0.672											OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	False	0	True	6:88299660	0	A	88299660	G	A	88299660	3	1	7	1	0	0	0	0	1	0	0	0	13138	1058	37	1	1800	1	RARS2	6	88299660	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	8643877	88299660	82815407	30	534											
UTRN	7402	broad.mit.edu	37	chr6	144780435	144780435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcgatagctttctgggCcgctaccaagctgtacaaga	11	11	1	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr6:144780435C>T	ENST00000367545.3	+	20	2652	c.2652C>T	c.(2650-2652)ggC>ggT	p.G884G		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	884	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCTTTCTGGGCCGCTACCAAG	0.483													False	0	True	6:144780435	0	T	144780435	C	T	144780435	2	4	7	1	0	0	0	0	0	0	0	1	17187	726	26	2		2	UTRN	6	144780435	Silent	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	56480775	144780435	26334632	31	535											
ACTB	60	broad.mit.edu	37	chr7	5567750	5567750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggcgtacaggtctttgCggatgtccacgtcacacttc	11	11	2	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:5567750C>T	ENST00000331789.5	-	5	1060	c.869G>A	c.(868-870)cGc>cAc	p.R290H	AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	290					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CAGGTCTTTGCGGATGTCCAC	0.562													False	0	False	7:5567750	0	T	5567750	C	T	5567750	3	4	7	1	0	0	0	0	1	0	0	0	193	768	27	1	266	1	ACTB	7	5567750	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		5567750	153570913	32	536											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	7	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-2J-AABE-01A-12D-A40W-08	38586028	44153778	114984885	33	537											
DYNC1I1	1780	broad.mit.edu	37	chr7	95442629	95442629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaagccaagactcaggCgatctggggccattaacaag	13	10	2	1	rs145885345		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr7:95442629C>T	ENST00000324972.6	+	4	538	c.345C>T	c.(343-345)ggC>ggT	p.G115G	DYNC1I1_ENST00000359388.4_Silent_p.G98G|DYNC1I1_ENST00000537881.1_Silent_p.G98G|DYNC1I1_ENST00000437599.1_Silent_p.G115G|DYNC1I1_ENST00000413338.1_Silent_p.G98G|DYNC1I1_ENST00000447467.2_Silent_p.G98G|DYNC1I1_ENST00000457059.1_Silent_p.G98G	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	115	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AAGACTCAGGCGATCTGGGGC	0.423													False	0	False	7:95442629	0	T	95442629	C	T	95442629	2	4	7	1	0	0	0	0	0	0	0	1	4872	755	27	1		1	DYNC1I1	7	95442629	Silent	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	51288851	95442629	63696034	34	538											
RIMS2	9699	broad.mit.edu	37	chr8	105160951	105160951	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagaatgatggcagccagtCtgacactgcagtgggcacct	13	10	1	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr8:105160951C>T	ENST00000436393.2	+	23	3504	c.3263C>T	c.(3262-3264)tCt>tTt	p.S1088F	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	516					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCAGCCAGTCTGACACTGCA	0.517										HNSCC(12;0.0054)			False	0	False	8:105160951	0	T	105160951	C	T	105160951	3	4	7	1	0	0	0	0	1	0	0	0	13447	928	32	2		2	RIMS2	8	105160951	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		105160951	41203071	35	539											
MARCH8	220972	broad.mit.edu	37	chr10	45954652	45954652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacatgtgatggcaatgaCgtggaatgtcactgagcaca	11	9	1	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr10:45954652C>T	ENST00000453424.2	-	7	1594	c.1333G>A	c.(1333-1335)Gtc>Atc	p.V445I	MARCH8_ENST00000395771.3_Missense_Mutation_p.V163I|MARCH8_ENST00000319836.3_Missense_Mutation_p.V163I|MARCH8_ENST00000395769.2_Missense_Mutation_p.V163I|MARCH8_ENST00000476962.1_5'UTR	NM_001282866.1	NP_001269795.1	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	163						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						ATGGCAATGACGTGGAATGTC	0.527													False	0	False	10:45954652	0	T	45954652	C	T	45954652	3	4	7	1	0	0	0	0	1	0	0	0	9374	536	19	1	396	1	MARCH8	10	45954652	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		45954652	89580095	36	540											
FGF8	2253	broad.mit.edu	37	chr10	103534555	103534555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggacctgcacgtgcttccCgctggtgcggctgtagagtt	14	12	0	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr10:103534555C>T	ENST00000347978.2	-	3	353	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	FGF8_ENST00000346714.3_Missense_Mutation_p.G51R|FGF8_ENST00000344255.3_Missense_Mutation_p.G80R|FGF8_ENST00000320185.2_Missense_Mutation_p.G91R|FGF8_ENST00000485728.1_5'UTR	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	80					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ACGTGCTTCCCGCTGGTGCGG	0.617													False	0	True	10:103534555	0	T	103534555	C	T	103534555	3	4	7	1	0	0	0	0	1	0	0	0	5898	652	23	1	475	1	FGF8	10	103534555	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	57579903	103534555	32000192	37	541											
MUC5B	727897	broad.mit.edu	37	chr11	1263793	1263793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagccaccagctccacgGccacgccctcctcaactccg	6	24	1	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr11:1263793G>A	ENST00000447027.1	+	31	5750	c.5692G>A	c.(5692-5694)Gcc>Acc	p.A1898T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.A1895T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1895	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCCACGGCCACGCCCTC	0.617													False	0	False	11:1263793	0	A	1263793	G	A	1263793	3	1	7	1	0	0	0	0	1	0	0	0	10046	1203	42	2	5814	2	MUC5B	11	1263793	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08		1263793	133742723	38	542											
ARNTL	406	broad.mit.edu	37	chr11	13378443	13378443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagatgagcaaggaggcCgtgagcctgtgggcgctcac	17	10	1	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr11:13378443C>T	ENST00000403482.3	+	1	19	c.15C>T	c.(13-15)gcC>gcT	p.A5A	ARNTL_ENST00000403290.1_Intron|ARNTL_ENST00000403510.3_Intron|ARNTL_ENST00000396441.3_Intron|ARNTL_ENST00000389707.4_Intron|ARNTL_ENST00000389708.3_Intron|ARNTL_ENST00000401424.1_Intron|ARNTL_ENST00000361003.4_Intron			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	0					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GCAAGGAGGCCGTGAGCCTGT	0.507													False	0	False	11:13378443	0	T	13378443	C	T	13378443	2	4	7	1	0	0	0	0	0	0	0	1	971	667	23	1		1	ARNTL	11	13378443	Silent	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	12114650	13378443	121628073	39	543											
OR4C6	219432	broad.mit.edu	37	chr11	55433335	55433335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttacagctctaaagggcgGcacaaagccctctctacctg	8	14	3	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr11:55433335G>A	ENST00000314259.3	+	1	722	c.693G>A	c.(691-693)cgG>cgA	p.R231R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231R(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTAAAGGGCGGCACAAAGCCC	0.507													False	0	False	11:55433335	0	A	55433335	G	A	55433335	2	1	7	1	0	0	0	0	0	0	0	1	11120	1190	42	2		2	OR4C6	11	55433335	Silent	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	42054892	55433335	79573181	40	544											
KCNA5	3741	broad.mit.edu	37	chr12	5154148	5154148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgagttcagggatgaaCgtgagctgctccgccaccct	12	13	1	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:5154148C>A	ENST00000252321.3	+	1	1064	c.835C>A	c.(835-837)Cgt>Agt	p.R279S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	279						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CAGGGATGAACGTGAGCTGCT	0.687													False	0	False	12:5154148	0	A	5154148	C	A	5154148	3	1	7	1	0	0	0	0	1	0	0	0	8056	536	19	3	837	3	KCNA5	12	5154148	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		5154148	128697747	41	545											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	7	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	20244137	25398285	108453610	42	546											
PAH	5053	broad.mit.edu	37	chr12	103306580	103306580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactgacctcaaataagcGcaatactttggccaatgcac	7	12	1	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:103306580G>A	ENST00000553106.1	-	2	629	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Missense_Mutation_p.R48C	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	53	ACT.		R -> H (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TCAAATAAGCGCAATACTTTG	0.383													False	0	False	12:103306580	0	A	103306580	G	A	103306580	3	1	7	1	0	0	0	0	1	0	0	0	11462	1087	38	1	1249	1	PAH	12	103306580	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	77908295	103306580	30545315	43	547											
HVCN1	84329	broad.mit.edu	37	chr12	111121035	111121035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagaatccattaccttttCgtcccaggtggccatgtccc	7	15	0	1	rs147424254		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr12:111121035C>T	ENST00000356742.5	-	2	769	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	HVCN1_ENST00000242607.8_Missense_Mutation_p.E6K|HVCN1_ENST00000439744.2_Intron|HVCN1_ENST00000548312.1_Missense_Mutation_p.E6K			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	6					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						ATTACCTTTTCGTCCCAGGTG	0.458													False	0	True	12:111121035	0	T	111121035	C	T	111121035	3	4	7	1	0	0	0	0	1	0	0	0	7512	893	31	1	829	1	HVCN1	12	111121035	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	7814455	111121035	22730860	44	548											
SNX6	58533	broad.mit.edu	37	chr14	35072604	35072604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttaaatctcttctcaaaaTaggatgtgctgccacacgac	6	10	2	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr14:35072604T>C	ENST00000396526.3	-	5	614	c.118A>G	c.(118-120)Att>Gtt	p.I40V	SNX6_ENST00000355110.5_Missense_Mutation_p.I44V|SNX6_ENST00000396534.3_Missense_Mutation_p.I40V|SNX6_ENST00000362031.4_Missense_Mutation_p.I168V			Q9UNH7	SNX6_HUMAN	sorting nexin 6	156	PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CTTCTCAAAATAGGATGTGCT	0.338													False	0	True	14:35072604	0	C	35072604	T	C	35072604	3	2	7	1	0	0	0	0	1	0	0	0	14986	1406	49	4	790	4	SNX6	14	35072604	Missense_Mutation	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08		35072604	72276936	45	549											
AHNAK2	113146	broad.mit.edu	37	chr14	105416584	105416584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtgccctttgaagccgGctccctcgggaagggggccc	17	13	0	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr14:105416584G>A	ENST00000333244.5	-	7	5323	c.5204C>T	c.(5203-5205)gCc>gTc	p.A1735V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1735						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGAAGCCGGCTCCCTCGGG	0.632													False	0	False	14:105416584	0	A	105416584	G	A	105416584	3	1	7	1	0	0	0	0	1	0	0	0	415	1203	42	2	12187	2	AHNAK2	14	105416584	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	70343980	105416584	1932956	46	550											
ZC3H7A	29066	broad.mit.edu	37	chr16	11868213	11868213	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggcatctttcctccatttGccagcactgcagatggcaga	10	12	1	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:11868213G>C	ENST00000396516.2	-	8	979	c.782C>G	c.(781-783)gCa>gGa	p.A261G	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.A261G			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	261						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TCCTCCATTTGCCAGCACTGC	0.473													False	0	True	16:11868213	0	C	11868213	G	C	11868213	3	2	7	1	0	0	0	0	1	0	0	0	17655	1319	46	5	2193	5	ZC3H7A	16	11868213	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08		11868213	78486540	47	551											
ABCC6	368	broad.mit.edu	37	chr16	16248786	16248786	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagccccacgtgggcaatggGgaccccgtcgatccagatcc	12	16	0	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:16248786G>C	ENST00000205557.7	-	28	4014	c.3985C>G	c.(3985-3987)Ccc>Gcc	p.P1329A		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1329	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGGGCAATGGGGACCCCGTCG	0.677													False	0	True	16:16248786	0	C	16248786	G	C	16248786	3	2	7	1	0	0	0	0	1	0	0	0	57	1232	43	5	542	5	ABCC6	16	16248786	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	4380573	16248786	74105967	48	552											
ABCC6	368	broad.mit.edu	37	chr16	16284080	16284080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggccggaggtccGcaaggcgcccagctcctggc	17	13	0	1	rs72664217		TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr16:16284080G>A	ENST00000205557.7	-	12	1605	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	526	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCGGAGGTCCGCAAGGCGCCC	0.577													False	0	False	16:16284080	0	A	16284080	G	A	16284080	3	1	7	1	0	0	0	0	1	0	0	0	57	1086	38	1	3015	1	ABCC6	16	16284080	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	35294	16284080	74070673	49	553											
KRT17	3872	broad.mit.edu	37	chr17	39780381	39780381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactggctgtagtcacgggcGggccccggggcctgcctctg	16	14	2	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr17:39780381G>A	ENST00000311208.8	-	1	448	c.381C>T	c.(379-381)ccC>ccT	p.P127P	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	127	Linker 1.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGTCACGGGCGGGCCCCGGGG	0.642													False	0	True	17:39780381	0	A	39780381	G	A	39780381	2	1	7	1	0	0	0	0	0	0	0	1	8504	1103	39	1		1	KRT17	17	39780381	Silent	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08		39780381	41414829	50	554											
RNF43	54894	broad.mit.edu	37	chr17	56492875	56492875	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcgtccaaagcctgcctGcagggtagccatcagcagcc	12	14	1	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr17:56492875G>A	ENST00000584437.1	-	1	2019	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	RNF43_ENST00000583753.1_Nonsense_Mutation_p.Q22*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.Q22*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000407977.2_Nonsense_Mutation_p.Q22*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.Q22*			Q68DV7	RNF43_HUMAN	ring finger protein 43	22						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.Q22*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGCCTGCCTGCAGGGTAGCC	0.552													False	0	True	17:56492875	0	A	56492875	G	A	56492875	4	1	7	1	0	0	0	0	0	1	0	0	13574	1328	46	2	2323	2	RNF43	17	56492875	Nonsense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	16712494	56492875	24702335	51	555											
ARHGAP28	79822	broad.mit.edu	37	chr18	6859874	6859874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggataaagaagggagttttgCggttcccaggagtgactctg	15	6	1	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr18:6859874C>T	ENST00000419673.2	+	4	444	c.227C>T	c.(226-228)gCg>gTg	p.A76V	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.A235V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	58					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGGAGTTTTGCGGTTCCCAGG	0.433													False	0	False	18:6859874	0	T	6859874	C	T	6859874	3	4	7	1	0	0	0	0	1	0	0	0	879	768	27	1	237	1	ARHGAP28	18	6859874	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08		6859874	71217374	52	556											
SMAD4	4089	broad.mit.edu	37	chr18	48591861	48591861	+	Frame_Shift_Del	DEL	C	C	-													taggagagacatttaaggttCcttcaagctgccctattgtt							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr18:48591861delC	ENST00000588745.1	+	5	736	c.736delC	c.(736-738)cctfs	p.P246fs	SMAD4_ENST00000342988.3_Frame_Shift_Del_p.P342fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P342fs			Q13485	SMAD4_HUMAN	SMAD family member 4	342					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.F339_S343del(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATTTAAGGTTCCTTCAAGCTG	0.443													False	2	False	18:48591861	0	-	48591861	C	-	48591861	7	5	7	1	0	1	0	1	0	0	0	0	14840	855	30	0	1054	0	SMAD4	18	48591861	Frame_Shift_Del	DEL	C	TCGA-2J-AABE-01A-12D-A40W-08	41731987	48591861	29485387	53	557											
ZNF823	55552	broad.mit.edu	37	chr19	11833554	11833554	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgtgagttctctcatgTcttagataggtactgtaatc	10	8	3	2			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:11833554T>C	ENST00000341191.6	-	4	948	c.795A>G	c.(793-795)agA>agG	p.R265R	ZNF823_ENST00000545749.1_Silent_p.R83R	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTCTCTCATGTCTTAGATAGG	0.418										HNSCC(68;0.2)			False	0	False	19:11833554	0	C	11833554	T	C	11833554	2	2	7	1	0	0	0	0	0	0	0	1	18261	1664	58	4		4	ZNF823	19	11833554	Silent	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08		11833554	47295429	54	558											
ZNF585B	92285	broad.mit.edu	37	chr19	37677113	37677113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtaaacaatttcccacaGtgaccacatttataaggttt	6	8	0	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:37677113G>T	ENST00000532828.2	-	5	1577	c.1326C>A	c.(1324-1326)caC>caA	p.H442Q	ZNF585B_ENST00000531805.1_Missense_Mutation_p.H387Q|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.H30Q	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTCCCACAGTGACCACATT	0.393													False	0	False	19:37677113	0	T	37677113	G	T	37677113	3	4	7	1	0	0	0	0	1	0	0	0	18101	1020	36	3	987	3	ZNF585B	19	37677113	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	25843559	37677113	21451870	55	559											
LRFN1	57622	broad.mit.edu	37	chr19	39805357	39805357	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagcttgtgaagctgcAcgaaggtcccctccgcgatg	13	13	0	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:39805357A>T	ENST00000248668.4	-	1	619	c.620T>A	c.(619-621)gTg>gAg	p.V207E	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	207						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTGAAGCTGCACGAAGGTCCC	0.647													False	0	False	19:39805357	0	T	39805357	A	T	39805357	3	4	7	1	0	0	0	0	1	0	0	0	8999	159	6	5	1703	5	LRFN1	19	39805357	Missense_Mutation	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	2128244	39805357	19323626	56	560											
PRX	57716	broad.mit.edu	37	chr19	40901352	40901352	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctcagcccccacccgAgccttggggagtgagatggc	13	15	2	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:40901352A>G	ENST00000324001.7	-	7	3177	c.2907T>C	c.(2905-2907)gcT>gcC	p.A969A	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	969					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCCCACCCGAGCCTTGGGGA	0.642													False	0	False	19:40901352	0	G	40901352	A	G	40901352	2	3	7	1	0	0	0	0	0	0	0	1	12718	291	11	4		4	PRX	19	40901352	Silent	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	1095995	40901352	18227631	57	561											
SCAF1	58506	broad.mit.edu	37	chr19	50154632	50154632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgcgcagcccacacagcCgactcccgcccctggaacgc	11	20	0	0			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:50154632C>T	ENST00000360565.3	+	7	1110	c.986C>T	c.(985-987)cCg>cTg	p.P329L		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	329					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCACACAGCCGACTCCCGCC	0.701													False	0	False	19:50154632	0	T	50154632	C	T	50154632	3	4	7	1	0	0	0	0	1	0	0	0	13948	652	23	1	1008	1	SCAF1	19	50154632	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	9253280	50154632	8974351	58	562											
NLRP8	126205	broad.mit.edu	37	chr19	56477724	56477724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggtgctgagatcccccCggtgccgtctgcagtgtctc	14	14	2	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:56477724C>T	ENST00000291971.3	+	5	2430	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	NLRP8_ENST00000590542.1_Missense_Mutation_p.R787W	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	787						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGATCCCCCCGGTGCCGTCT	0.542													False	0	True	19:56477724	0	T	56477724	C	T	56477724	3	4	7	1	0	0	0	0	1	0	0	0	10551	643	23	1	2377	1	NLRP8	19	56477724	Missense_Mutation	SNP	C	TCGA-2J-AABE-01A-12D-A40W-08	6323092	56477724	2651259	59	563											
ZNF582	147948	broad.mit.edu	37	chr19	56901800	56901800	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtctctgtacaaatccctcTgagcaggtgccaaccactgc	8	15	2	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr19:56901800T>G	ENST00000301310.4	-	3	238	c.80A>C	c.(79-81)cAg>cCg	p.Q27P	ZNF582_ENST00000586929.1_Missense_Mutation_p.Q27P	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CAAATCCCTCTGAGCAGGTGC	0.483													False	0	False	19:56901800	0	G	56901800	T	G	56901800	3	3	7	1	0	0	0	0	1	0	0	0	18097	1580	55	4	1485	4	ZNF582	19	56901800	Missense_Mutation	SNP	T	TCGA-2J-AABE-01A-12D-A40W-08	424076	56901800	2227183	60	564											
RUNX1	861	broad.mit.edu	37	chr21	36171709	36171710	+	Frame_Shift_Ins	INS	-	-	AT													gcaatggatcccaggtattgINSgtaggactgatcgtaggacc							TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr21:36171709_36171710insAT	ENST00000344691.4	-	5	2351_2352	c.774_775insAT	c.(772-777)taccaafs	p.Q259fs	RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.Q286fs|RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.Q195fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.Q274fs|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.Q286fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	259	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CCCAGGTATTGGTAGGACTGAT	0.505			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"								False	0	False	21:36171709	0	AT	36171710	-	AT	36171709	7	5	7	1	0	1	1	0	0	0	0	0	13825	1357	47	0	594	0	RUNX1	21	36171709	Frame_Shift_Ins	INS	-	TCGA-2J-AABE-01A-12D-A40W-08		36171709	11958186	61	565											
HLCS	3141	broad.mit.edu	37	chr21	38269242	38269242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttggtctgcagattttggcGatagatctctaagttgaaat	10	6	2	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr21:38269242G>A	ENST00000399120.1	-	7	2599	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	HLCS_ENST00000336648.4_Missense_Mutation_p.R457C|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	457					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGATTTTGGCGATAGATCTCT	0.468													False	0	False	21:38269242	0	A	38269242	G	A	38269242	3	1	7	1	0	0	0	0	1	0	0	0	7260	1058	37	1	835	1	HLCS	21	38269242	Missense_Mutation	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08	2097533	38269242	9860653	62	566											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45970917	45970917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctttgcagcagacaggcAcacggcaggactgctggcag	14	12	0	1			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chr21:45970917A>G	ENST00000391621.1	-	1	471	c.425T>C	c.(424-426)gTg>gCg	p.V142A	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	142	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GCAGACAGGCACACGGCAGGA	0.622													False	0	False	21:45970917	0	G	45970917	A	G	45970917	3	3	7	1	0	0	0	0	1	0	0	0	8559	159	6	4	346	4	KRTAP10-2	21	45970917	Missense_Mutation	SNP	A	TCGA-2J-AABE-01A-12D-A40W-08	7701675	45970917	2158978	63	567											
ACTRT1	139741	broad.mit.edu	37	chrX	127185142	127185142	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgaaactgctcatagaGgtcatgatggatgcaccaat	10	8	2	3			TCGA-2J-AABE-01A-12D-A40W-08	TCGA-2J-AABE-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	380e7781-277f-4143-bd2d-0245a20a970f	b0c12efc-9a63-411b-8c7b-7e693ecbaf7a	g.chrX:127185142G>T	ENST00000371124.3	-	1	1240	c.1044C>A	c.(1042-1044)acC>acA	p.T348T		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	348						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TGCTCATAGAGGTCATGATGG	0.473													False	0	False	X:127185142	0	T	127185142	G	T	127185142	2	4	7	1	0	0	0	0	0	0	0	1	218	987	35	3		3	ACTRT1	23	127185142	Silent	SNP	G	TCGA-2J-AABE-01A-12D-A40W-08		127185142	28085418	64	568											
CORT	1325	broad.mit.edu	37	chr1	10510135	10510135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccaggcgttagacatgtAtagacacaaaaacagctgga	10	8	0	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:10510135A>C	ENST00000320498.4	+	1	165	c.5A>C	c.(4-6)tAt>tCt	p.Y2S	APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|CORT_ENST00000377049.3_5'UTR					cortistatin											breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		TTAGACATGTATAGACACAAA	0.512													False	0	False	1:10510135	0	C	10510135	A	C	10510135	3	2	8	1	0	0	0	0	1	0	0	0	3783	449	16	4	7	4	CORT	1	10510135	Missense_Mutation	SNP	A	TCGA-2J-AABF-01A-31D-A40W-08		10510135	238740486	1	569											
UBR4	23352	broad.mit.edu	37	chr1	19505631	19505631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcaggaggcgtgaaagCacagagaggctttgagggtg	18	5	0	4			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:19505631C>T	ENST00000375267.2	-	18	2271	c.2268G>A	c.(2266-2268)gtG>gtA	p.V756V	UBR4_ENST00000375226.2_Silent_p.V756V|UBR4_ENST00000375254.3_Silent_p.V756V|UBR4_ENST00000375217.2_Silent_p.V756V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	756					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCGTGAAAGCACAGAGAGGC	0.507													False	0	False	1:19505631	0	T	19505631	C	T	19505631	2	4	8	1	0	0	0	0	0	0	0	1	16988	697	25	2		2	UBR4	1	19505631	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	8995496	19505631	229744990	2	570											
HSPG2	3339	broad.mit.edu	37	chr1	22216568	22216568	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgagcagcatctcctgaatCtgagccccatccgcattccc	7	17	2	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:22216568C>G	ENST00000374695.3	-	6	559	c.480G>C	c.(478-480)caG>caC	p.Q160H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	160	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCTCCTGAATCTGAGCCCCAT	0.622													False	0	False	1:22216568	0	G	22216568	C	G	22216568	3	3	8	1	0	0	0	0	1	0	0	0	7480	912	32	5	13063	5	HSPG2	1	22216568	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	2710937	22216568	227034053	3	571											
HSPG2	3339	broad.mit.edu	37	chr1	22216609	22216609	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccgagcccacatccagctCcacaaaaacccagccatcca	4	19	0	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:22216609C>A	ENST00000374695.3	-	6	518	c.439G>T	c.(439-441)Gag>Tag	p.E147*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	147	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACATCCAGCTCCACAAAAACC	0.617													False	0	False	1:22216609	0	A	22216609	C	A	22216609	4	1	8	1	0	0	0	0	0	1	0	0	7480	864	30	3	13104	3	HSPG2	1	22216609	Nonsense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	41	22216609	227034012	4	572											
GRIK3	2899	broad.mit.edu	37	chr1	37346362	37346362	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtccttgttgtccagCgggtggtgcttccaacgcag	14	10	0	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:37346362C>A	ENST00000373091.3	-	3	439	c.423G>T	c.(421-423)ccG>ccT	p.P141P	GRIK3_ENST00000373093.4_Silent_p.P141P	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	141					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGTTGTCCAGCGGGTGGTGCT	0.612													False	0	True	1:37346362	0	A	37346362	C	A	37346362	2	1	8	1	0	0	0	0	0	0	0	1	6822	755	27	3		3	GRIK3	1	37346362	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	15129753	37346362	211904259	5	573											
MUC1	4582	broad.mit.edu	37	chr1	155160784	155160793	+	Frame_Shift_Del	DEL	GAGGAGGTGA	GAGGAGGTGA	-													ggggagaagtgctgtgattgGaggaggtgagaggaggtacc							TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	GAGGAGGTGA	GAGGAGGTGA	-	-	GAGGAGGTGA	GAGGAGGTGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:155160784_155160793delGAGGAGGTGA	ENST00000368395.1	-	3	805_814	c.734_743delTCACCTCCTC	c.(733-744)ctcacctcctccfs	p.LTSS245fs	MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000337604.5_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1025	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGTGATTGGAGGAGGTGAGAGGAGGTAC	0.495			T	IGH@	B-NHL								False	1	False	1:155160784	0	-	155160793	GAGGAGGTGA	-	155160784	7	5	8	1	0	1	0	1	0	0	0	0	10037	1189	41	0		0	MUC1	1	155160784	Frame_Shift_Del	DEL	GAGGAGGTGA	TCGA-2J-AABF-01A-31D-A40W-08	117814422	155160784	94089837	6	574											
CD1D	912	broad.mit.edu	37	chr1	158153826	158153826	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggtttaagaggcaaacGtaagtctcccctttcccttt	7	13	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:158153826G>A	ENST00000368171.3	+	6	1485		c.e6+1			NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule						antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGAGGCAAACGTAAGTCTCCC	0.512													False	0	False	1:158153826	0	A	158153826	G	A	158153826	5	1	8	1	0	0	0	0	0	0	1	0	3000	1159	40	1	1005	1	CD1D	1	158153826	Splice_Site	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	2993042	158153826	91096795	7	575											
PYHIN1	149628	broad.mit.edu	37	chr1	158913710	158913710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcgactcttctgctttcGactgagaaagagggaaaata	10	8	2	2	rs148035759		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:158913710G>A	ENST00000368140.1	+	6	1378	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	PYHIN1_ENST00000392254.2_Missense_Mutation_p.R378Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R369Q|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R369Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	378	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TTCTGCTTTCGACTGAGAAAG	0.363													False	0	False	1:158913710	0	A	158913710	G	A	158913710	3	1	8	1	0	0	0	0	1	0	0	0	12944	1058	37	1	1151	1	PYHIN1	1	158913710	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	759884	158913710	90336911	8	576											
DDR2	4921	broad.mit.edu	37	chr1	162729744	162729744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcatgtttgaatttgaccGcatcaggaatttcactacca	7	9	3	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:162729744G>A	ENST00000367922.3	+	9	1268	c.830G>A	c.(829-831)cGc>cAc	p.R277H	DDR2_ENST00000367921.3_Missense_Mutation_p.R277H	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2						cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GAATTTGACCGCATCAGGAAT	0.498													False	0	False	1:162729744	0	A	162729744	G	A	162729744	3	1	8	1	0	0	0	0	1	0	0	0	4362	1087	38	1	852	1	DDR2	1	162729744	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	3816034	162729744	86520877	9	577											
LBR	3930	broad.mit.edu	37	chr1	225611758	225611758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttaccacttcaccatcgGcaaatttcctacttggcatt	4	14	2	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:225611758G>A	ENST00000338179.2	-	2	145	c.20C>T	c.(19-21)gCc>gTc	p.A7V	LBR_ENST00000272163.4_Missense_Mutation_p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	7	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTCACCATCGGCAAATTTCCT	0.373													False	0	False	1:225611758	0	A	225611758	G	A	225611758	3	1	8	1	0	0	0	0	1	0	0	0	8703	1203	42	2	1879	2	LBR	1	225611758	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	62882014	225611758	23638863	10	578											
TMEM63A	9725	broad.mit.edu	37	chr1	226037743	226037743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagacgaagtagaggttgtgCcggtccaccatgtgcttgag	14	8	0	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	647						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGAGGTTGTGCCGGTCCACCA	0.602													False	0	False	1:226037743	0	T	226037743	C	T	226037743	2	4	8	1	0	0	0	0	0	0	0	1	16272	726	26	2		2	TMEM63A	1	226037743	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	425985	226037743	23212878	11	579											
RYR2	6262	broad.mit.edu	37	chr1	237550598	237550598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacttgtcttatggcaaCggcagcttacacgtggatgc	11	11	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:237550598C>T	ENST00000366574.2	+	9	911	c.594C>T	c.(592-594)aaC>aaT	p.N198N	RYR2_ENST00000542537.1_Silent_p.N182N|RYR2_ENST00000360064.6_Silent_p.N196N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	198	MIR 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTATGGCAACGGCAGCTTAC	0.498													False	0	False	1:237550598	0	T	237550598	C	T	237550598	2	4	8	1	0	0	0	0	0	0	0	1	13848	535	19	1		1	RYR2	1	237550598	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	11512855	237550598	11700023	12	580											
PGBD2	0	broad.mit.edu	37	chr1	249212345	249212345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccttccggagatacattgCctgtgtgtatctggagagca	12	9	1	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:249212345C>T	ENST00000355360.4	+	3	1079	c.809C>T	c.(808-810)gCc>gTc	p.A270V	PGBD2_ENST00000329291.5_Missense_Mutation_p.A521V|PGBD2_ENST00000539153.1_Missense_Mutation_p.A518V	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	521										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGATACATTGCCTGTGTGTAT	0.532													False	0	False	1:249212345	0	T	249212345	C	T	249212345	3	4	8	1	0	0	0	0	1	0	0	0	11850	739	26	2	1568	2	PGBD2	1	249212345	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	11661747	249212345	38276	13	581											
TPO	7173	broad.mit.edu	37	chr2	1497609	1497609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagttctgcggcctgcctCgcctggagacccccgctgac	14	16	1	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:1497609C>T	ENST00000345913.4	+	11	1895	c.1804C>T	c.(1804-1806)Cgc>Tgc	p.R602C	TPO_ENST00000382198.1_Missense_Mutation_p.R429C|TPO_ENST00000349624.3_Missense_Mutation_p.R429C|TPO_ENST00000346956.3_Missense_Mutation_p.R602C|TPO_ENST00000329066.4_Missense_Mutation_p.R602C|TPO_ENST00000382201.3_Missense_Mutation_p.R545C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Missense_Mutation_p.R602C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	602					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCCTGCCTCGCCTGGAGAC	0.572													False	0	True	2:1497609	0	T	1497609	C	T	1497609	3	4	8	1	0	0	0	0	1	0	0	0	16493	884	31	1	1842	1	TPO	2	1497609	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08		1497609	241701764	14	582											
TMEM17	200728	broad.mit.edu	37	chr2	62728450	62728450	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaactgattaaccattTtccttaaggtaagaaatgct	6	9	0	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:62728450T>G	ENST00000335390.5	-	4	702	c.491A>C	c.(490-492)aAa>aCa	p.K164T		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	164						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			ATTAACCATTTTCCTTAAGGT	0.428													False	0	True	2:62728450	0	G	62728450	T	G	62728450	3	3	8	1	0	0	0	0	1	0	0	0	16167	1841	64	4	109	4	TMEM17	2	62728450	Missense_Mutation	SNP	T	TCGA-2J-AABF-01A-31D-A40W-08	61230841	62728450	180470923	15	583											
CTNNA2	1496	broad.mit.edu	37	chr2	80136879	80136879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggcggagtgcaacgccGtgcggcaggcgctccaggac	17	13	0	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:80136879G>A	ENST00000466387.1	+	11	1736	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V338M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	338					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.V338M(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTGCAACGCCGTGCGGCAGGC	0.597													False	0	False	2:80136879	0	A	80136879	G	A	80136879	3	1	8	1	0	0	0	0	1	0	0	0	4038	1145	40	1		1	CTNNA2	2	80136879	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	17408429	80136879	163062494	16	584											
FAHD2B	151313	broad.mit.edu	37	chr2	97751522	97751522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccactgtttcccattgCgtcttgttagccagtcacga	9	13	2	0	rs138523783		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:97751522C>T	ENST00000414820.1	-	6	869	c.599G>A	c.(598-600)cGc>cAc	p.R200H	FAHD2B_ENST00000440566.2_Missense_Mutation_p.R200H|FAHD2B_ENST00000272610.3_Missense_Mutation_p.R200H			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	200							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						TTTCCCATTGCGTCTTGTTAG	0.597													False	0	False	2:97751522	0	T	97751522	C	T	97751522	3	4	8	1	0	0	0	0	1	0	0	0	5410	768	27	1	361	1	FAHD2B	2	97751522	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	17614643	97751522	145447851	17	585											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	8	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-2J-AABF-01A-31D-A40W-08	95843	97847365	145352008	18	586											
SCN9A	6335	broad.mit.edu	37	chr2	167168078	167168078	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgccgggaggaatgtccccAtagatgaagggcagctgttt	14	8	0	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:167168078A>G	ENST00000303354.6	-	2	529	c.189T>C	c.(187-189)taT>taC	p.Y63Y	SCN9A_ENST00000375387.4_Silent_p.Y63Y|SCN9A_ENST00000409672.1_Silent_p.Y63Y|SCN9A_ENST00000409435.1_Silent_p.Y63Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	63						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAATGTCCCCATAGATGAAGG	0.473													False	0	True	2:167168078	0	G	167168078	A	G	167168078	2	3	8	1	0	0	0	0	0	0	0	1	14006	224	8	4		4	SCN9A	2	167168078	Silent	SNP	A	TCGA-2J-AABF-01A-31D-A40W-08	69320713	167168078	76031295	19	587											
TTN	7273	broad.mit.edu	37	chr2	179587193	179587193	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgcagagccatttaatcGacaagtgagtgtaacaggta	13	6	0	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:179587193G>A	ENST00000589042.1	-	77	22545	c.22321C>T	c.(22321-22323)Cga>Tga	p.R7441*	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7124*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7124	Ig-like 56.			S -> N (in Ref. 1; CAA62189).			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6197*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTAATCGACAAGTGAGT	0.418													False	0	False	2:179587193	0	A	179587193	G	A	179587193	4	1	8	1	0	0	0	0	0	1	0	0	16819	1066	37	1	82352	1	TTN	2	179587193	Nonsense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	12419115	179587193	63612180	20	588											
PIKFYVE	200576	broad.mit.edu	37	chr2	209190426	209190426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatagcacaacagcttgccCggcgggtctcccttgtgctt	10	14	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:209190426C>T	ENST00000264380.4	+	20	3049	c.2891C>T	c.(2890-2892)cCg>cTg	p.P964L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	964					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.P964L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACAGCTTGCCCGGCGGGTCTC	0.502													False	0	True	2:209190426	0	T	209190426	C	T	209190426	3	4	8	1	0	0	0	0	1	0	0	0	11993	652	23	1	2976	1	PIKFYVE	2	209190426	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	29603233	209190426	34008947	21	589											
SPEG	10290	broad.mit.edu	37	chr2	220312960	220312960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagggaagaagtccaagtcGtccgggccctccctggcggg	16	13	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:220312960G>A	ENST00000312358.7	+	4	1212	c.1080G>A	c.(1078-1080)tcG>tcA	p.S360S	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Silent_p.S256S	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	360					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGTCCAAGTCGTCCGGGCCCT	0.716													False	0	False	2:220312960	0	A	220312960	G	A	220312960	2	1	8	1	0	0	0	0	0	0	0	1	15118	1132	40	1		1	SPEG	2	220312960	Silent	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	11122534	220312960	22886413	22	590											
SLC25A38	54977	broad.mit.edu	37	chr3	39431021	39431021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggctttcctgtgtggctcCatcagtgggacctgctctac	11	12	2	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:39431021C>T	ENST00000273158.4	+	2	482	c.105C>T	c.(103-105)tcC>tcT	p.S35S		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	35					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGTGTGGCTCCATCAGTGGGA	0.512													False	0	False	3:39431021	0	T	39431021	C	T	39431021	2	4	8	1	0	0	0	0	0	0	0	1	14582	581	21	2		2	SLC25A38	3	39431021	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08		39431021	158591409	23	591											
MST1	4485	broad.mit.edu	37	chr3	49725275	49725279	+	Frame_Shift_Del	DEL	GTGCT	GTGCT	-													ggcaccaccgcatgtagcagGtgctgtagctctgtgccccg							TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	GTGCT	GTGCT	-	-	GTGCT	GTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:49725275_49725279delGTGCT	ENST00000449682.2	-	2	507_511	c.146_150delAGCAC	c.(145-150)cagcacfs	p.QH49fs	MST1_ENST00000545762.1_Frame_Shift_Del_p.QH35fs|MST1_ENST00000383728.3_Intron|MST1_ENST00000494828.2_Intron	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	35	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CATGTAGCAGGTGCTGTAGCTCTGT	0.61													False	1	False	3:49725275	0	-	49725279	GTGCT	-	49725275	7	5	8	1	0	1	0	1	0	0	0	0	9957	1252	44	0	2095	0	MST1	3	49725275	Frame_Shift_Del	DEL	GTGCT	TCGA-2J-AABF-01A-31D-A40W-08	10294254	49725275	148297155	24	592											
DRD3	1814	broad.mit.edu	37	chr3	113850098	113850098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctaagctgagcttgggCgctatggtgggactcaggga	15	8	2	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:113850098C>T	ENST00000383673.2	-	6	1303	c.873G>A	c.(871-873)gcG>gcA	p.A291A	DRD3_ENST00000467632.1_Silent_p.A291A|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000460779.1_Silent_p.A291A	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	291					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGAGCTTGGGCGCTATGGTGG	0.542													False	0	True	3:113850098	0	T	113850098	C	T	113850098	2	4	8	1	0	0	0	0	0	0	0	1	4788	755	27	1		1	DRD3	3	113850098	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	64124823	113850098	84172332	25	593											
SLC41A3	54946	broad.mit.edu	37	chr3	125734346	125734346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatacgtaccacatatgaCgggggtaaatatcgccatgc	9	10	0	1	rs138712564		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:125734346C>T	ENST00000383598.2	-	7	1168	c.883G>A	c.(883-885)Gtc>Atc	p.V295I	SLC41A3_ENST00000346785.5_Missense_Mutation_p.V285I|SLC41A3_ENST00000360370.4_Missense_Mutation_p.V321I|SLC41A3_ENST00000315891.6_Missense_Mutation_p.V321I|SLC41A3_ENST00000508835.1_Missense_Mutation_p.V204I	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	321						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCACATATGACGGGGGTAAAT	0.517													False	0	True	3:125734346	0	T	125734346	C	T	125734346	3	4	8	1	0	0	0	0	1	0	0	0	14711	536	19	1	680	1	SLC41A3	3	125734346	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	11884248	125734346	72288084	26	594											
COL6A6	131873	broad.mit.edu	37	chr3	130287020	130287020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcagattggaccagatcGggtgcaaattggtgtagtcc	13	8	1	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:130287020G>A	ENST00000358511.6	+	5	2004	c.1973G>A	c.(1972-1974)cGg>cAg	p.R658Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R658Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	658	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen		p.R658L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGACCAGATCGGGTGCAAATT	0.413													False	0	True	3:130287020	0	A	130287020	G	A	130287020	3	1	8	1	0	0	0	0	1	0	0	0	3726	1116	39	1	1991	1	COL6A6	3	130287020	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	4552674	130287020	67735410	27	595											
CRMP1	1400	broad.mit.edu	37	chr4	5830236	5830236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttattcctgattttgacgcGctggtacaggtgctccggga	12	10	0	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr4:5830236G>A	ENST00000324989.7	-	12	1871	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	CRMP1_ENST00000512574.1_Missense_Mutation_p.R479C|CRMP1_ENST00000397890.2_Missense_Mutation_p.R481C|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	481					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		ATTTTGACGCGCTGGTACAGG	0.592													False	0	False	4:5830236	0	A	5830236	G	A	5830236	3	1	8	1	0	0	0	0	1	0	0	0	3913	1087	38	1	289	1	CRMP1	4	5830236	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		5830236	185324040	28	596											
GABRB1	2560	broad.mit.edu	37	chr4	47427807	47427807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgtactcctatgacagCgccagcatccagtaccgcaa	7	15	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr4:47427807C>T	ENST00000295454.3	+	9	1489	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	GABRB1_ENST00000538619.1_Silent_p.S329S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	399					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTATGACAGCGCCAGCATCC	0.657													False	0	False	4:47427807	0	T	47427807	C	T	47427807	2	4	8	1	0	0	0	0	0	0	0	1	6208	767	27	1		1	GABRB1	4	47427807	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	41597571	47427807	143726469	29	597											
APC	324	broad.mit.edu	37	chr5	112175046	112175046	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggctgccacttgcaaagtttCttctattaaccaagaaacaa	6	10	2	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr5:112175046C>A	ENST00000457016.1	+	16	4135	c.3755C>A	c.(3754-3756)tCt>tAt	p.S1252Y	APC_ENST00000508376.2_Missense_Mutation_p.S1252Y|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S1252Y			P25054	APC_HUMAN	adenomatous polyposis coli	1252	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGCAAAGTTTCTTCTATTAAC	0.393		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			False	0	True	5:112175046	0	A	112175046	C	A	112175046	3	1	8	1	0	0	0	0	1	0	0	0	765	913	32	3	3813	3	APC	5	112175046	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08		112175046	68740214	30	598											
PCDHA12	0	broad.mit.edu	37	chr5	140255222	140255222	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggacctggggctggaGctggcggagctggtgccgcg	20	11	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr5:140255222G>T	ENST00000398631.2	+	1	165	c.165G>T	c.(163-165)gaG>gaT	p.E55D	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCTGGAGCTGGCGGAGC	0.622													False	0	False	5:140255222	0	T	140255222	G	T	140255222	3	4	8	1	0	0	0	0	1	0	0	0	11590	962	34	3	167	3	PCDHA12	5	140255222	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	28080176	140255222	40660038	31	599											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	8	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-2J-AABF-01A-31D-A40W-08		7393450	163721617	32	600											
B3GALT4	8705	broad.mit.edu	37	chr6	33245960	33245960	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagtggcctcacacctGgggcccctttccaccctatg	11	16	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:33245960G>A	ENST00000451237.1	+	1	1044	c.764G>A	c.(763-765)tGg>tAg	p.W255*		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	255					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CCTCACACCTGGGGCCCCTTT	0.657													False	0	True	6:33245960	0	A	33245960	G	A	33245960	4	1	8	1	0	0	0	0	0	1	0	0	1253	1357	47	2	766	2	B3GALT4	6	33245960	Nonsense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	25852510	33245960	137869107	33	601											
TRDN	10345	broad.mit.edu	37	chr6	123869741	123869741	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaaaggatctgagccaatCttggcaatagagcttgctaa	9	7	2	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:123869741C>A	ENST00000334268.4	-	3	566	c.249G>T	c.(247-249)aaG>aaT	p.K83N	TRDN_ENST00000542443.1_Missense_Mutation_p.K83N|TRDN_ENST00000398178.3_Missense_Mutation_p.K83N|TRDN_ENST00000546248.1_Missense_Mutation_p.K83N			Q13061	TRDN_HUMAN	triadin	83					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTGAGCCAATCTTGGCAATAG	0.333													False	0	False	6:123869741	0	A	123869741	C	A	123869741	3	1	8	1	0	0	0	0	1	0	0	0	16551	912	32	3	2096	3	TRDN	6	123869741	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	90623781	123869741	47245326	34	602											
HEATR2	54919	broad.mit.edu	37	chr7	794231	794231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttttcgttccagagcgcCgccctgtgctgggctgccgg	13	15	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:794231C>T	ENST00000297440.6	+	5	1050	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R344C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	344							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCCAGAGCGCCGCCCTGTGCT	0.547													False	0	False	7:794231	0	T	794231	C	T	794231	3	4	8	1	0	0	0	0	1	0	0	0	7075	652	23	1	1048	1	HEATR2	7	794231	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08		794231	158344432	35	603											
SDK1	221935	broad.mit.edu	37	chr7	4185464	4185464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacctggccccggagtccGcatacatcttcaggctgtcc	10	17	2	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:4185464G>A	ENST00000404826.2	+	29	4478	c.4339G>A	c.(4339-4341)Gca>Aca	p.A1447T	SDK1_ENST00000389531.3_Missense_Mutation_p.A1447T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1447	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCGGAGTCCGCATACATCTT	0.662													False	0	False	7:4185464	0	A	4185464	G	A	4185464	3	1	8	1	0	0	0	0	1	0	0	0	14049	1087	38	1	4453	1	SDK1	7	4185464	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	3391233	4185464	154953199	36	604											
TBX20	57057	broad.mit.edu	37	chr7	35293131	35293131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgattgtgttctccgtcGcctccttctccttagagccg	9	13	2	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:35293131G>A	ENST00000408931.3	-	1	627	c.101C>T	c.(100-102)gCg>gTg	p.A34V		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	34						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTTCTCCGTCGCCTCCTTCTC	0.647													False	0	False	7:35293131	0	A	35293131	G	A	35293131	3	1	8	1	0	0	0	0	1	0	0	0	15738	1087	38	1	1275	1	TBX20	7	35293131	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	31107667	35293131	123845532	37	605											
OGDH	4967	broad.mit.edu	37	chr7	44747283	44747283	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaagaaccaaggctactatGactacgtgaagccaagactt	8	10	0	4			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:44747283G>A	ENST00000222673.5	+	22	2941	c.2899G>A	c.(2899-2901)Gac>Aac	p.D967N	OGDH_ENST00000439616.2_Missense_Mutation_p.D817N|OGDH_ENST00000444676.1_Missense_Mutation_p.D982N|OGDH_ENST00000449767.1_Missense_Mutation_p.D963N|OGDH_ENST00000543843.1_Missense_Mutation_p.D918N|OGDH_ENST00000447398.1_Missense_Mutation_p.D978N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	967					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGGCTACTATGACTACGTGAA	0.602													False	0	False	7:44747283	0	A	44747283	G	A	44747283	3	1	8	1	0	0	0	0	1	0	0	0	10907	1290	45	2	3154	2	OGDH	7	44747283	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	9454152	44747283	114391380	38	606											
WBSCR17	64409	broad.mit.edu	37	chr7	71130456	71130456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgggtggcccacattgagCggaagaagaagccatataat	12	9	0	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:71130456C>T	ENST00000333538.5	+	7	1775	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	381	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCACATTGAGCGGAAGAAGAA	0.488													False	0	False	7:71130456	0	T	71130456	C	T	71130456	3	4	8	1	0	0	0	0	1	0	0	0	17348	759	27	1	1167	1	WBSCR17	7	71130456	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	26383173	71130456	88008207	39	607											
MLXIPL	51085	broad.mit.edu	37	chr7	73010006	73010006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgtacgggttcggacGtagtcatcaaacatgtctcg	12	10	3	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:73010006G>A	ENST00000313375.3	-	15	2318	c.2271C>T	c.(2269-2271)taC>taT	p.Y757Y	MLXIPL_ENST00000354613.1_Silent_p.Y736Y|MLXIPL_ENST00000429400.2_Silent_p.Y738Y|MLXIPL_ENST00000414749.2_Silent_p.Y755Y|MLXIPL_ENST00000395189.1_Silent_p.Y664Y|MLXIPL_ENST00000434326.1_Silent_p.Y663Y	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	757					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGTTCGGACGTAGTCATCAA	0.632													False	0	False	7:73010006	0	A	73010006	G	A	73010006	2	1	8	1	0	0	0	0	0	0	0	1	9704	1140	40	1		1	MLXIPL	7	73010006	Silent	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	1879550	73010006	86128657	40	608											
PEG10	23089	broad.mit.edu	37	chr7	94293374	94293374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgagaggttgccaaacGcaagatcagacgcctgcgcc	14	12	1	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:94293374G>A	ENST00000482108.1	+	2	985	c.506G>A	c.(505-507)cGc>cAc	p.R169H	PEG10_ENST00000488574.1_Missense_Mutation_p.R169H	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	169	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTTGCCAAACGCAAGATCAGA	0.542													False	0	False	7:94293374	0	A	94293374	G	A	94293374	3	1	8	1	0	0	0	0	1	0	0	0	11787	1087	38	1	740	1	PEG10	7	94293374	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	21283368	94293374	64845289	41	609											
CADPS2	93664	broad.mit.edu	37	chr7	122377080	122377080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtttccccattgaggaaggCctggaaccgttctttcagta	11	10	2	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:122377080C>A	ENST00000334010.7	-	2	803	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	CADPS2_ENST00000449022.2_Missense_Mutation_p.A128S|CADPS2_ENST00000412584.2_Missense_Mutation_p.A128S|CADPS2_ENST00000313070.7_Missense_Mutation_p.A128S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	128					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTGAGGAAGGCCTGGAACCGT	0.383													False	0	False	7:122377080	0	A	122377080	C	A	122377080	3	1	8	1	0	0	0	0	1	0	0	0	2591	739	26	3	3668	3	CADPS2	7	122377080	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	28083706	122377080	36761583	42	610											
CHRNA2	0	broad.mit.edu	37	chr8	27320780	27320780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggggctgagcttcaggcGtagggggtggcagagctcca	19	8	1	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:27320780G>A	ENST00000407991.1	-	6	1788	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C	CHRNA2_ENST00000520933.2_Missense_Mutation_p.R394C|CHRNA2_ENST00000240132.2_Missense_Mutation_p.R379C	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	394						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	AGCTTCAGGCGTAGGGGGTGG	0.667													False	0	False	8:27320780	0	A	27320780	G	A	27320780	3	1	8	1	0	0	0	0	1	0	0	0	3406	1145	40	1	417	1	CHRNA2	8	27320780	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		27320780	119043242	43	611											
KCNB2	9312	broad.mit.edu	37	chr8	73480145	73480145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggacaggctgcccaggaCgcgcctggggaagcttcgag	17	12	0	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:73480145C>T	ENST00000523207.1	+	2	764	c.176C>T	c.(175-177)aCg>aTg	p.T59M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGCCCAGGACGCGCCTGGGG	0.537													False	0	False	8:73480145	0	T	73480145	C	T	73480145	3	4	8	1	0	0	0	0	1	0	0	0	8063	536	19	1	178	1	KCNB2	8	73480145	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	46159365	73480145	72883877	44	612											
CNBD1	168975	broad.mit.edu	37	chr8	88249204	88249204	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctagctcgacctcaaacaaAcgtgtataaaaatctgattg	6	10	2	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:88249204A>G	ENST00000518476.1	+	6	686	c.635A>G	c.(634-636)aAc>aGc	p.N212S	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	212										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CCTCAAACAAACGTGTATAAA	0.368													False	0	True	8:88249204	0	G	88249204	A	G	88249204	3	3	8	1	0	0	0	0	1	0	0	0	3614	43	2	4	657	4	CNBD1	8	88249204	Missense_Mutation	SNP	A	TCGA-2J-AABF-01A-31D-A40W-08	14769059	88249204	58114818	45	613											
PABPC1	26986	broad.mit.edu	37	chr8	101730449	101730449	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggatcacgctgagaccacaTgatgcgtactggcttgccct	11	12	1	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:101730449T>A	ENST00000318607.5	-	2	1381	c.253A>T	c.(253-255)Atg>Ttg	p.M85L	PABPC1_ENST00000519004.1_Missense_Mutation_p.M40L|PABPC1_ENST00000522387.1_Missense_Mutation_p.M85L	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	85	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGAGACCACATGATGCGTACT	0.398													False	0	False	8:101730449	0	A	101730449	T	A	101730449	3	1	8	1	0	0	0	0	1	0	0	0	11431	1464	51	5	1709	5	PABPC1	8	101730449	Missense_Mutation	SNP	T	TCGA-2J-AABF-01A-31D-A40W-08	13481245	101730449	44633573	46	614											
GRHL2	79977	broad.mit.edu	37	chr8	102649148	102649149	+	Frame_Shift_Ins	INS	-	-	CTCT													attacaacacggatgatgaaINScgagaagggtaagacactca							TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:102649148_102649149insCTCT	ENST00000251808.3	+	12	1847_1848	c.1509_1510insCTCT	c.(1510-1512)cgafs	p.R504fs	GRHL2_ENST00000395927.1_Frame_Shift_Ins_p.R488fs|GRHL2_ENST00000517674.1_3'UTR	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	504						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CGGATGATGAACGAGAAGGGTA	0.421													False	0	False	8:102649148	0	CTCT	102649149	-	CTCT	102649148	7	5	8	1	0	1	1	0	0	0	0	0	6811	40	2	0	1555	0	GRHL2	8	102649148	Frame_Shift_Ins	INS	-	TCGA-2J-AABF-01A-31D-A40W-08	918699	102649148	43714874	47	615											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	23	8	0	1	rs121913388		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21971120	0	A	21971120	G	A	21971120	4	1	8	1	0	0	0	0	0	1	0	0	3184	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		21971120	119242311	48	616											
GOLGA1	2800	broad.mit.edu	37	chr9	127690535	127690535	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctgttggcttggaatgtctCattctgctcttgaaatttcc	8	9	4	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr9:127690535C>G	ENST00000373555.4	-	6	664	c.331G>C	c.(331-333)Gag>Cag	p.E111Q		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	111						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGGAATGTCTCATTCTGCTCT	0.433													False	0	False	9:127690535	0	G	127690535	C	G	127690535	3	3	8	1	0	0	0	0	1	0	0	0	6596	835	29	5	2044	5	GOLGA1	9	127690535	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	105719415	127690535	13522896	49	617											
VAX1	11023	broad.mit.edu	37	chr10	118895992	118895992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccgggtacctgggtctcGgagaggttaagctgccgggc	17	11	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr10:118895992G>A	ENST00000277905.2	-	2	664	c.420C>T	c.(418-420)tcC>tcT	p.S140S	VAX1_ENST00000369206.5_Silent_p.S140S	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	140						nucleus	sequence-specific DNA binding	p.S140S(1)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCTGGGTCTCGGAGAGGTTAA	0.652													False	0	False	10:118895992	0	A	118895992	G	A	118895992	2	1	8	1	0	0	0	0	0	0	0	1	17218	1103	39	1		1	VAX1	10	118895992	Silent	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		118895992	16638755	50	618											
E2F8	79733	broad.mit.edu	37	chr11	19256510	19256510	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttttgttgagattgtgtcGcccgtgccaagtgtacctgt	13	8	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:19256510G>A	ENST00000527884.1	-	5	779	c.547C>T	c.(547-549)Cga>Tga	p.R183*	E2F8_ENST00000250024.4_Nonsense_Mutation_p.R183*|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	183					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R183*(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGATTGTGTCGCCCGTGCCAA	0.463													False	0	True	11:19256510	0	A	19256510	G	A	19256510	4	1	8	1	0	0	0	0	0	1	0	0	4903	1095	38	1	2092	1	E2F8	11	19256510	Nonsense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		19256510	115750006	51	619											
ABTB2	25841	broad.mit.edu	37	chr11	34184254	34184254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccactgccctggctcgacGcatcactttcctccacaccc	6	20	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:34184254G>A	ENST00000435224.2	-	10	2511	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	ABTB2_ENST00000298992.2_Missense_Mutation_p.A510V	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	510							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGGCTCGACGCATCACTTTC	0.657													False	0	False	11:34184254	0	A	34184254	G	A	34184254	3	1	8	1	0	0	0	0	1	0	0	0	103	1087	38	1	1022	1	ABTB2	11	34184254	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	14927744	34184254	100822262	52	620											
MAP6	4135	broad.mit.edu	37	chr11	75298708	75298708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaccttcacccttgacaGgtgctgggactatgggacct	13	11	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:75298708G>A	ENST00000304771.3	-	4	2588	c.1838C>T	c.(1837-1839)cCt>cTt	p.P613L	MAP6_ENST00000526740.1_Missense_Mutation_p.P284L|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	613	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACCCTTGACAGGTGCTGGGAC	0.537													False	0	False	11:75298708	0	A	75298708	G	A	75298708	3	1	8	1	0	0	0	0	1	0	0	0	9331	1000	35	2	607	2	MAP6	11	75298708	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	41114454	75298708	59707808	53	621											
CASP5	838	broad.mit.edu	37	chr11	104871109	104871109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggttttttctttttatgCgcagttccgcagattccctc	7	12	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:104871109C>T	ENST00000393141.2	-	6	901	c.870G>A	c.(868-870)gcG>gcA	p.A290A	CASP5_ENST00000526056.1_Silent_p.A290A|CASP5_ENST00000260315.3_Silent_p.A277A|CASP5_ENST00000418434.1_Silent_p.A135A|CASP5_ENST00000444749.2_Silent_p.A219A|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000531367.1_Silent_p.A135A	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	277					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TCTTTTTATGCGCAGTTCCGC	0.483													False	0	False	11:104871109	0	T	104871109	C	T	104871109	2	4	8	1	0	0	0	0	0	0	0	1	2694	755	27	1		1	CASP5	11	104871109	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	29572401	104871109	30135407	54	622											
RPUSD4	84881	broad.mit.edu	37	chr11	126081418	126081418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctctgggcatttatggccGtagaggcagcggcagcggca	15	10	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:126081418G>A	ENST00000298317.4	-	1	169	c.116C>T	c.(115-117)aCg>aTg	p.T39M	FAM118B_ENST00000533050.1_5'UTR|RPUSD4_ENST00000533628.1_Missense_Mutation_p.T39M	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	39					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		ATTTATGGCCGTAGAGGCAGC	0.592													False	0	False	11:126081418	0	A	126081418	G	A	126081418	3	1	8	1	0	0	0	0	1	0	0	0	13748	1145	40	1	1045	1	RPUSD4	11	126081418	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	21210309	126081418	8925098	55	623											
USP5	0	broad.mit.edu	37	chr12	6970246	6970246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcatgcagctgcctgtgCccatggatgcagcccttaac	9	14	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:6970246C>T	ENST00000229268.8	+	12	1526	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.P492S	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	492					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GCTGCCTGTGCCCATGGATGC	0.557													False	0	True	12:6970246	0	T	6970246	C	T	6970246	3	4	8	1	0	0	0	0	1	0	0	0	17165	739	26	2	1520	2	USP5	12	6970246	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08		6970246	126881649	56	624											
PLEKHA5	54477	broad.mit.edu	37	chr12	19436284	19436284	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agattatggcccgctaccctGaaggttatagaacactccca	8	12	0	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:19436284G>A	ENST00000538714.1	+	11	1370	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E214K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E462K|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E456K|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E456K	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	456							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCGCTACCCTGAAGGTTATAG	0.408													False	0	False	12:19436284	0	A	19436284	G	A	19436284	3	1	8	1	0	0	0	0	1	0	0	0	12128	1291	45	2	1408	2	PLEKHA5	12	19436284	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	12466038	19436284	114415611	57	625											
PDE3A	5139	broad.mit.edu	37	chr12	20774340	20774340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggctaaaaagcaaagtcGaccaggtaagtaacttaact	8	7	0	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:20774340G>A	ENST00000359062.3	+	5	1575	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	512					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AAGCAAAGTCGACCAGGTAAG	0.418													False	0	False	12:20774340	0	A	20774340	G	A	20774340	3	1	8	1	0	0	0	0	1	0	0	0	11705	1058	37	1	1553	1	PDE3A	12	20774340	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	1338056	20774340	113077555	58	626											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	8	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	4623944	25398284	108453611	59	627											
RARG	5916	broad.mit.edu	37	chr12	53607867	53607867	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atatctaggcaggcagctttGagcagagtgatctggtcagc	13	8	3	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:53607867G>A	ENST00000425354.2	-	7	1276	c.789C>T	c.(787-789)ctC>ctT	p.L263L	RARG_ENST00000338561.5_Silent_p.L252L|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Silent_p.L191L|RARG_ENST00000543726.1_Silent_p.L241L|RARG_ENST00000394426.1_Silent_p.L263L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	263	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCAGCTTTGAGCAGAGTGA	0.532											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	12:53607867	0	A	53607867	G	A	53607867	2	1	8	1	0	0	0	0	0	0	0	1	13133	1277	45	2		2	RARG	12	53607867	Silent	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	28209583	53607867	80244028	60	628											
HOXC12	3228	broad.mit.edu	37	chr12	54348951	54348951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctctcaaccctcccttcGgccgcacgtgcgagctggcg	11	17	2	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:54348951G>A	ENST00000243103.3	+	1	334	c.238G>A	c.(238-240)Ggc>Agc	p.G80S		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	80					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CCCTCCCTTCGGCCGCACGTG	0.721													False	0	False	12:54348951	0	A	54348951	G	A	54348951	3	1	8	1	0	0	0	0	1	0	0	0	7358	1116	39	1	240	1	HOXC12	12	54348951	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	741084	54348951	79502944	61	629											
CEP290	80184	broad.mit.edu	37	chr12	88512344	88512344	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgttcttcctctagactttCaatctgcaaagtataaatta	4	9	4	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:88512344C>T	ENST00000552810.1	-	17	1970	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.E545K	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	543					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTAGACTTTCAATCTGCAAA	0.333													False	0	True	12:88512344	0	T	88512344	C	T	88512344	3	4	8	1	0	0	0	0	1	0	0	0	3276	835	29	2	5964	2	CEP290	12	88512344	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	34163393	88512344	45339551	62	630											
TCP11L2	255394	broad.mit.edu	37	chr12	106705000	106705000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactcctccagcaaatccagCtctcctgcttgtgagccgat	8	15	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:106705000C>A	ENST00000546625.1	+	2	306	c.147C>A	c.(145-147)agC>agA	p.S49R	TCP11L2_ENST00000299045.3_Missense_Mutation_p.S49R|TCP11L2_ENST00000547153.1_Missense_Mutation_p.S49R			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	49	Ser-rich.									endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GCAAATCCAGCTCTCCTGCTT	0.522													False	0	False	12:106705000	0	A	106705000	C	A	106705000	3	1	8	1	0	0	0	0	1	0	0	0	15797	796	28	3	149	3	TCP11L2	12	106705000	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	18192656	106705000	27146895	63	631											
SKA3	221150	broad.mit.edu	37	chr13	21734128	21734133	+	Splice_Site	DEL	TAAAAG	TAAAAG	-													gagttggtatattcggcatcTaaaagacacataaaatggtc							TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	TAAAAG	TAAAAG	-	-	TAAAAG	TAAAAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr13:21734128_21734133delTAAAAG	ENST00000400018.3	-	6	899		c.e6-2		SKA3_ENST00000314759.5_Splice_Site	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATTCGGCATCTAAAAGACACATAAAA	0.32													False	1	True	13:21734128	0	-	21734133	TAAAAG	-	21734128	8	5	8	1	0	1	0	1	0	0	1	0	14435	1536	53	0	473	0	SKA3	13	21734128	Splice_Site	DEL	TAAAAG	TCGA-2J-AABF-01A-31D-A40W-08		21734128	93435750	64	632											
TBC1D2B	23102	broad.mit.edu	37	chr15	78305282	78305282	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtaatgtttgttgttgggcAgagttcgcagcaagtccagc	13	7	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:78305282A>T	ENST00000409931.3	-	9	2224	c.2153T>A	c.(2152-2154)cTg>cAg	p.L718Q	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.L718Q			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	718	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTTGTTGGGCAGAGTTCGCAG	0.547													False	0	False	15:78305282	0	T	78305282	A	T	78305282	3	4	8	1	0	0	0	0	1	0	0	0	15701	188	7	5	758	5	TBC1D2B	15	78305282	Missense_Mutation	SNP	A	TCGA-2J-AABF-01A-31D-A40W-08		78305282	24226110	65	633											
FAH	2184	broad.mit.edu	37	chr15	80465429	80465429	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agttttgggaccactgtctcTccgtgggtggtgcccatgga	14	10	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:80465429T>A	ENST00000539156.1	+	8	2808	c.570T>A	c.(568-570)tcT>tcA	p.S190S	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000407106.1_Silent_p.S260S|FAH_ENST00000561421.1_Silent_p.S260S|FAH_ENST00000261755.5_Silent_p.S260S			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	260					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCACTGTCTCTCCGTGGGTGG	0.572									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	15:80465429	0	A	80465429	T	A	80465429	2	1	8	1	0	0	0	0	0	0	0	1	5407	1538	54	5		5	FAH	15	80465429	Silent	SNP	T	TCGA-2J-AABF-01A-31D-A40W-08	2160147	80465429	22065963	66	634											
TARSL2	123283	broad.mit.edu	37	chr15	102252128	102252128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatccattttcaatgggcGgaccgtagcacaggtggcct	11	10	1	0	rs146271638	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:102252128G>A	ENST00000335968.3	-	5	983	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	256					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCAATGGGCGGACCGTAGCA	0.463													False	0	False	15:102252128	0	A	102252128	G	A	102252128	3	1	8	1	0	0	0	0	1	0	0	0	15643	1116	39	1	1701	1	TARSL2	15	102252128	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	21786699	102252128	279264	67	635											
ASGR2	433	broad.mit.edu	37	chr17	7010342	7010342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcccaggagttgatgaCcaccaggtgtgcgttctcca	10	14	1	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:7010342C>T	ENST00000380952.2	-	7	904	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	ASGR2_ENST00000254850.7_Missense_Mutation_p.V190I|ASGR2_ENST00000446679.2_Missense_Mutation_p.V195I|ASGR2_ENST00000355035.5_Missense_Mutation_p.V214I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	214	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GAGTTGATGACCACCAGGTGT	0.607													False	0	False	17:7010342	0	T	7010342	C	T	7010342	3	4	8	1	0	0	0	0	1	0	0	0	1044	507	18	2	307	2	ASGR2	17	7010342	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08		7010342	74184868	68	636											
TP53	7157	broad.mit.edu	37	chr17	7577555	7577555	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccggttcatgccgcccatGcaggaactgttacacatgta	9	13	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:7577555G>T	ENST00000420246.2	-	7	858	c.726C>A	c.(724-726)tgC>tgA	p.C242*	TP53_ENST00000455263.2_Nonsense_Mutation_p.C242*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C242*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C242*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C242*|TP53_ENST00000269305.4_Nonsense_Mutation_p.C242*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.C242W(7)|p.?(5)|p.C242*(3)|p.N239_C242delNSSC(3)|p.C242C(2)|p.C242fs*20(1)|p.C242F(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCCGCCCATGCAGGAACTGT	0.582		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)			False	0	False	17:7577555	0	T	7577555	G	T	7577555	4	4	8	1	0	0	0	0	0	1	0	0	16464	1311	46	3	564	3	TP53	17	7577555	Nonsense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	567213	7577555	73617655	69	637											
FTSJ3	117246	broad.mit.edu	37	chr17	61902464	61902464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttagcctgaacttcaacctCcttaaaggcaaatttggggt	8	10	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:61902464C>T	ENST00000427159.2	-	8	1300	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	219					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ACTTCAACCTCCTTAAAGGCA	0.428													False	0	False	17:61902464	0	T	61902464	C	T	61902464	3	4	8	1	0	0	0	0	1	0	0	0	6131	864	30	2	1944	2	FTSJ3	17	61902464	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	54324909	61902464	19292746	70	638											
TIMM44	10469	broad.mit.edu	37	chr19	7998774	7998774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggctcaaacactttctcctCcttgaacttatctcccgcaa	4	15	3	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:7998774C>T	ENST00000270538.3	-	6	926	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	220					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						ACTTTCTCCTCCTTGAACTTA	0.587													False	0	False	19:7998774	0	T	7998774	C	T	7998774	3	4	8	1	0	0	0	0	1	0	0	0	15994	864	30	2	732	2	TIMM44	19	7998774	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08		7998774	51130209	71	639											
LRP3	4037	broad.mit.edu	37	chr19	33696978	33696978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgtgctacacgcctgcCgaccgctgcaacaaccagaa	10	15	1	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:33696978C>T	ENST00000253193.7	+	5	1504	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	434	LDL-receptor class A 3.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					ACACGCCTGCCGACCGCTGCA	0.667													False	0	False	19:33696978	0	T	33696978	C	T	33696978	2	4	8	1	0	0	0	0	0	0	0	1	9020	639	23	1		1	LRP3	19	33696978	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	25698204	33696978	25432005	72	640											
SIGLEC8	27181	broad.mit.edu	37	chr19	51961269	51961269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgcttcctctctctagccGaaagaaatatgaccccttat	5	13	2	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:51961269G>A	ENST00000321424.3	-	1	439	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R125W|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R125W	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	125					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCTCTAGCCGAAAGAAATAT	0.502													False	0	True	19:51961269	0	A	51961269	G	A	51961269	3	1	8	1	0	0	0	0	1	0	0	0	14395	1057	37	1	1154	1	SIGLEC8	19	51961269	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	18264291	51961269	7167714	73	641											
ZNF83	55769	broad.mit.edu	37	chr19	53117004	53117004	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtgcaaggtgtgaaatatGatggaagacctttccacata	10	6	0	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:53117004G>A	ENST00000597597.1	-	2	3067	c.814C>T	c.(814-816)Cat>Tat	p.H272Y	ZNF83_ENST00000301096.3_Missense_Mutation_p.H272Y|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.H272Y|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000544146.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000391789.4_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000545872.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000601257.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	272						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGTGAAATATGATGGAAGACC	0.418													False	0	False	19:53117004	0	A	53117004	G	A	53117004	3	1	8	1	0	0	0	0	1	0	0	0	18265	1290	45	2	740	2	ZNF83	19	53117004	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	1155735	53117004	6011979	74	642											
NLRP7	199713	broad.mit.edu	37	chr19	55452821	55452821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccatcatctcagcctttgCcatcttacacaattccgtga	4	15	3	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:55452821C>T	ENST00000446217.1	-	4	745	c.343G>A	c.(343-345)Gca>Aca	p.A115T	NLRP7_ENST00000448121.2_Missense_Mutation_p.A87T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A87T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A87T|NLRP7_ENST00000590030.1_Missense_Mutation_p.A87T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A87T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A87T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	87							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAGCCTTTGCCATCTTACAC	0.423													False	0	False	19:55452821	0	T	55452821	C	T	55452821	3	4	8	1	0	0	0	0	1	0	0	0	10550	739	26	2	2894	2	NLRP7	19	55452821	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	2335817	55452821	3676162	75	643											
ZNF470	388566	broad.mit.edu	37	chr19	57089047	57089047	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggacttattcagcataagaGaactcatactggagagagac	10	7	2	3			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:57089047G>T	ENST00000330619.8	+	6	1936	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R417I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R417I(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CAGCATAAGAGAACTCATACT	0.418													False	0	False	19:57089047	0	T	57089047	G	T	57089047	3	4	8	1	0	0	0	0	1	0	0	0	18012	942	33	3	1264	3	ZNF470	19	57089047	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	1636226	57089047	2039936	76	644											
CDC25B	994	broad.mit.edu	37	chr20	3785242	3785242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatcagggaacgagaccGtgctgtcaacgactacccca	9	13	3	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:3785242G>A	ENST00000245960.5	+	15	2214	c.1517G>A	c.(1516-1518)cGt>cAt	p.R506H	CDC25B_ENST00000439880.2_Missense_Mutation_p.R492H|CDC25B_ENST00000379598.5_Missense_Mutation_p.R415H|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.R442H|CDC25B_ENST00000340833.4_Missense_Mutation_p.R465H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	506	Rhodanese.				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GAACGAGACCGTGCTGTCAAC	0.592													False	0	False	20:3785242	0	A	3785242	G	A	3785242	3	1	8	1	0	0	0	0	1	0	0	0	3086	1145	40	1	1575	1	CDC25B	20	3785242	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		3785242	59240278	77	645											
NFS1	9054	broad.mit.edu	37	chr20	34260692	34260692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatacctcatttctcgaagaCgcttcacatgctgaatgcat	6	11	3	2			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:34260692C>T	ENST00000374092.4	-	12	1365	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.V92I|NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000540053.1_Missense_Mutation_p.R230H|NFS1_ENST00000541387.1_Missense_Mutation_p.R381H|NFS1_ENST00000374085.1_Missense_Mutation_p.R372H|NFS1_ENST00000397425.1_Missense_Mutation_p.R372H	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	432					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TTCTCGAAGACGCTTCACATG	0.458													False	0	False	20:34260692	0	T	34260692	C	T	34260692	3	4	8	1	0	0	0	0	1	0	0	0	10453	536	19	1	86	1	NFS1	20	34260692	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	30475450	34260692	28764828	78	646											
KIAA1755	85449	broad.mit.edu	37	chr20	36868017	36868017	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggggctcctcctccagggTggggcctctttctggggagc	17	12	2	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:36868017T>C	ENST00000279024.4	-	4	1931	c.1660A>G	c.(1660-1662)Acc>Gcc	p.T554A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	554										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCCTCCAGGGTGGGGCCTCTT	0.617													False	0	True	20:36868017	0	C	36868017	T	C	36868017	3	2	8	1	0	0	0	0	1	0	0	0	8307	1696	59	4	1986	4	KIAA1755	20	36868017	Missense_Mutation	SNP	T	TCGA-2J-AABF-01A-31D-A40W-08	2607325	36868017	26157503	79	647											
NTSR1	4923	broad.mit.edu	37	chr20	61341006	61341006	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctactacttcctgcgcgaCgcctgcacctacgccacggc	10	18	0	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:61341006C>T	ENST00000370501.3	+	1	818	c.447C>T	c.(445-447)gaC>gaT	p.D149D		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	149						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCCTGCGCGACGCCTGCACCT	0.662													False	0	False	20:61341006	0	T	61341006	C	T	61341006	2	4	8	1	0	0	0	0	0	0	0	1	10778	535	19	1		1	NTSR1	20	61341006	Silent	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	24472989	61341006	1684514	80	648											
DIDO1	11083	broad.mit.edu	37	chr20	61511164	61511164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcactggaggagagcgcGgagggcggcccggcctcctc	19	14	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:61511164G>A	ENST00000266070.4	-	16	6469	c.6144C>T	c.(6142-6144)tcC>tcT	p.S2048S	DIDO1_ENST00000395343.1_Silent_p.S2048S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2048					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGAGAGCGCGGAGGGCGGCC	0.721													False	0	False	20:61511164	0	A	61511164	G	A	61511164	2	1	8	1	0	0	0	0	0	0	0	1	4552	1103	39	1		1	DIDO1	20	61511164	Silent	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	170158	61511164	1514356	81	649											
RFPL1	5988	broad.mit.edu	37	chr22	29837713	29837713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactactgggaggtggacGtgggaacaagcacagaatgg	16	8	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:29837713G>A	ENST00000354373.2	+	2	765	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	186	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GGAGGTGGACGTGGGAACAAG	0.562													False	0	False	22:29837713	0	A	29837713	G	A	29837713	3	1	8	1	0	0	0	0	1	0	0	0	13332	1145	40	1	562	1	RFPL1	22	29837713	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		29837713	21466853	82	650											
CACNA1I	8911	broad.mit.edu	37	chr22	40060900	40060900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggtcctccgagtcttgCggctcctgcgcaccctacgc	13	16	1	0			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:40060900C>T	ENST00000336649.4	+	24	3841	c.3841C>T	c.(3841-3843)Cgg>Tgg	p.R1281W	CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1275W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1275W|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1240W			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1275					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCGAGTCTTGCGGCTCCTGCG	0.637													False	0	False	22:40060900	0	T	40060900	C	T	40060900	3	4	8	1	0	0	0	0	1	0	0	0	2566	759	27	1	3905	1	CACNA1I	22	40060900	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	10223187	40060900	11243666	83	651											
PKDREJ	10343	broad.mit.edu	37	chr22	46654414	46654414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctattgacttgtcatagccGtaagtcagtccataaaatac	6	9	3	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:46654414G>A	ENST00000253255.5	-	1	4805	c.4806C>T	c.(4804-4806)taC>taT	p.Y1602Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1602					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGTCATAGCCGTAAGTCAGTC	0.398													False	0	False	22:46654414	0	A	46654414	G	A	46654414	2	1	8	1	0	0	0	0	0	0	0	1	12039	1140	40	1		1	PKDREJ	22	46654414	Silent	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08	6593514	46654414	4650152	84	652											
PHKA2	5256	broad.mit.edu	37	chrX	18961884	18961884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgacttgcgtcctccatGggctccaaaaaggtccagtt	9	13	0	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:18961884G>A	ENST00000379942.4	-	7	1326	c.661C>T	c.(661-663)Cat>Tat	p.H221Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	221					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CGTCCTCCATGGGCTCCAAAA	0.458													False	0	True	X:18961884	0	A	18961884	G	A	18961884	3	1	8	1	0	0	0	0	1	0	0	0	11913	1348	47	2	3154	2	PHKA2	23	18961884	Missense_Mutation	SNP	G	TCGA-2J-AABF-01A-31D-A40W-08		18961884	136308676	85	653											
ZNF182	7569	broad.mit.edu	37	chrX	47835701	47835701	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctgtacatttatagggtttCtctccagtatgagttctttg	8	7	3	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:47835701C>G	ENST00000396965.1	-	7	2135	c.1785G>C	c.(1783-1785)gaG>gaC	p.E595D	ZNF182_ENST00000305127.6_Missense_Mutation_p.E595D|ZNF182_ENST00000376943.3_Missense_Mutation_p.E576D	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E595D(1)|p.E576D(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TATAGGGTTTCTCTCCAGTAT	0.443													False	0	True	X:47835701	0	G	47835701	C	G	47835701	3	3	8	1	0	0	0	0	1	0	0	0	17833	912	32	5	138	5	ZNF182	23	47835701	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	28873817	47835701	107434859	86	654											
BRWD3	254065	broad.mit.edu	37	chrX	79938009	79938009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgctgctgcttcttagaCgttttctgtaccgtggcctt	9	11	2	1			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:79938009C>T	ENST00000373275.4	-	38	4568	c.4352G>A	c.(4351-4353)cGt>cAt	p.R1451H	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1451										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCTTCTTAGACGTTTTCTGTA	0.368													False	0	False	X:79938009	0	T	79938009	C	T	79938009	3	4	8	1	0	0	0	0	1	0	0	0	1533	536	19	1	1072	1	BRWD3	23	79938009	Missense_Mutation	SNP	C	TCGA-2J-AABF-01A-31D-A40W-08	32102308	79938009	75332551	87	655											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	9	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-2J-AABH-01A-21D-A40W-08		22987385	226263236	1	656											
ATP8B2	57198	broad.mit.edu	37	chr1	154300339	154300339	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcctttccctacaggCatgggcttctgtaaagtctc	7	13	4	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:154300339C>A	ENST00000368489.3	+	1	62		c.e1+2		ATP8B2_ENST00000368487.3_Intron	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2						ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCTACAGGCATGGGCTTCT	0.557													False	0	False	1:154300339	0	A	154300339	C	A	154300339	5	1	9	1	0	0	0	0	0	0	1	0	1199	724	25	3	66	3	ATP8B2	1	154300339	Splice_Site	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	131312954	154300339	94950282	2	657											
HMCN1	83872	broad.mit.edu	37	chr1	186050343	186050343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaatcctttgttagtgccGccaattatcaagggagcaaa	9	9	1	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:186050343G>A	ENST00000271588.4	+	56	8833	c.8604G>A	c.(8602-8604)ccG>ccA	p.P2868P	HMCN1_ENST00000367492.2_Silent_p.P2868P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2868	Ig-like C2-type 27.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTAGTGCCGCCAATTATCA	0.423													False	0	False	1:186050343	0	A	186050343	G	A	186050343	2	1	9	1	0	0	0	0	0	0	0	1	7267	1074	38	1		1	HMCN1	1	186050343	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	31750004	186050343	63200278	3	658											
CNIH3	149111	broad.mit.edu	37	chr1	224922304	224922304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatagctcagaactagcctaCgacccaccggtggtcatgaa	10	12	2	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:224922304C>T	ENST00000272133.3	+	5	1233	c.351C>T	c.(349-351)taC>taT	p.Y117Y		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	117					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		AACTAGCCTACGACCCACCGG	0.517													False	0	False	1:224922304	0	T	224922304	C	T	224922304	2	4	9	1	0	0	0	0	0	0	0	1	3627	547	19	1		1	CNIH3	1	224922304	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	38871961	224922304	24328317	4	659											
RYR2	6262	broad.mit.edu	37	chr1	237586430	237586430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatggggacagccattccGactacgccatgtcacaacag	10	12	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:237586430G>A	ENST00000366574.2	+	12	1204	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	296	MIR 4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGCCATTCCGACTACGCCAT	0.418													False	0	False	1:237586430	0	A	237586430	G	A	237586430	3	1	9	1	0	0	0	0	1	0	0	0	13848	1058	37	1	933	1	RYR2	1	237586430	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	12664126	237586430	11664191	5	660											
ADAM17	6868	broad.mit.edu	37	chr2	9663463	9663463	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcaactctgtcaattagcTctatctgtgtgtatttaaaa	5	8	5	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:9663463T>A	ENST00000310823.3	-	7	940	c.758A>T	c.(757-759)gAg>gTg	p.E253V	ADAM17_ENST00000497134.1_Missense_Mutation_p.E253V	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	253	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GTCAATTAGCTCTATCTGTGT	0.333													False	0	False	2:9663463	0	A	9663463	T	A	9663463	3	1	9	1	0	0	0	0	1	0	0	0	238	1551	54	5	1768	5	ADAM17	2	9663463	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08		9663463	233535910	6	661											
BCL11A	53335	broad.mit.edu	37	chr2	60688625	60688625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggatcaggttggggtcGttctcgctcttgaacttggc	14	10	3	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:60688625G>A	ENST00000335712.6	-	4	1649	c.1422C>T	c.(1420-1422)aaC>aaT	p.N474N	BCL11A_ENST00000537768.1_Silent_p.N143N|BCL11A_ENST00000358510.4_Silent_p.N440N|BCL11A_ENST00000538214.1_Silent_p.N440N|BCL11A_ENST00000356842.4_Silent_p.N474N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	474					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGTTGGGGTCGTTCTCGCTCT	0.642			T	IGH@	B-CLL								False	0	False	2:60688625	0	A	60688625	G	A	60688625	2	1	9	1	0	0	0	0	0	0	0	1	1367	1136	40	1		1	BCL11A	2	60688625	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	51025162	60688625	182510748	7	662											
CKAP2L	150468	broad.mit.edu	37	chr2	113498574	113498574	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtttcagcaactaaagagtcAgaagtaatccctgtgtatgt	9	7	2	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:113498574A>T	ENST00000541405.1	-	8	1861	c.1338T>A	c.(1336-1338)tcT>tcA	p.S446S	NT5DC4_ENST00000327581.4_Intron|CKAP2L_ENST00000302450.6_Silent_p.S611S			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	611						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTAAAGAGTCAGAAGTAATCC	0.348													False	0	False	2:113498574	0	T	113498574	A	T	113498574	2	4	9	1	0	0	0	0	0	0	0	1	3466	175	7	5		5	CKAP2L	2	113498574	Silent	SNP	A	TCGA-2J-AABH-01A-21D-A40W-08	52809949	113498574	129700799	8	663											
SCN1A	6323	broad.mit.edu	37	chr2	166900451	166900451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctgtgctcatcatctgCgaagtcgttctcagatccca	10	12	4	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:166900451C>T	ENST00000423058.2	-	11	1788	c.1771G>A	c.(1771-1773)Gca>Aca	p.A591T	SCN1A_ENST00000303395.4_Missense_Mutation_p.A591T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	591						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCATCATCTGCGAAGTCGTTC	0.517													False	0	False	2:166900451	0	T	166900451	C	T	166900451	3	4	9	1	0	0	0	0	1	0	0	0	13995	768	27	1	4322	1	SCN1A	2	166900451	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	53401877	166900451	76298922	9	664											
LRP2	4036	broad.mit.edu	37	chr2	170062574	170062574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgctcttggttttggaacGcgggctatcacagtgcggtt	13	8	2	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:170062574G>A	ENST00000263816.3	-	40	7800	c.7515C>T	c.(7513-7515)cgC>cgT	p.R2505R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2505					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R2505R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTTTTGGAACGCGGGCTATCA	0.428													False	0	False	2:170062574	0	A	170062574	G	A	170062574	2	1	9	1	0	0	0	0	0	0	0	1	9018	1074	38	1		1	LRP2	2	170062574	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	3162123	170062574	73136799	10	665											
ANKRD44	91526	broad.mit.edu	37	chr2	197990583	197990583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtggccgttcagagccGcatggtgcaaggctgtgcgc	15	13	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:197990583G>A	ENST00000328737.2	-	5	441	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ANKRD44_ENST00000282272.8_Missense_Mutation_p.A139V|ANKRD44_ENST00000409919.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A75V|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A122V|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A122V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	147							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTCAGAGCCGCATGGTGCAA	0.542													False	0	False	2:197990583	0	A	197990583	G	A	197990583	3	1	9	1	0	0	0	0	1	0	0	0	672	1087	38	1	2482	1	ANKRD44	2	197990583	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	27928009	197990583	45208790	11	666											
TUBA4A	7277	broad.mit.edu	37	chr2	220115248	220115248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaggtcgaacttgtggtcCaggcgggcccaggcctcggc	15	13	1	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:220115248C>T	ENST00000392088.2	-	4	1683	c.1128G>A	c.(1126-1128)ctG>ctA	p.L376L	TUBA4A_ENST00000248437.4_Silent_p.L391L	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	391					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTGTGGTCCAGGCGGGCCC	0.637													False	0	False	2:220115248	0	T	220115248	C	T	220115248	2	4	9	1	0	0	0	0	0	0	0	1	16833	581	21	2		2	TUBA4A	2	220115248	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	22124665	220115248	23084125	12	667											
SLC4A3	6508	broad.mit.edu	37	chr2	220500451	220500451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagatgaccccttgctgCggacgggctcggtatttggg	15	10	0	3			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:220500451C>T	ENST00000358055.3	+	14	2541	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	SLC4A3_ENST00000373762.3_Missense_Mutation_p.R704W|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R704W|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R677W|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R677W			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	677					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCTTGCTGCGGACGGGCTC	0.642													False	0	False	2:220500451	0	T	220500451	C	T	220500451	3	4	9	1	0	0	0	0	1	0	0	0	14735	759	27	1	2160	1	SLC4A3	2	220500451	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	385203	220500451	22698922	13	668											
IRS1	3667	broad.mit.edu	37	chr2	227662563	227662563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgatcggcgggtcagccCcacctggctgggcgggggat	19	12	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:227662563C>T	ENST00000305123.5	-	1	1912	c.892G>A	c.(892-894)Ggg>Agg	p.G298R		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGGGTCAGCCCCACCTGGCTG	0.687											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	2:227662563	0	T	227662563	C	T	227662563	3	4	9	1	0	0	0	0	1	0	0	0	7890	623	22	2	2840	2	IRS1	2	227662563	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	7162112	227662563	15536810	14	669											
VEPH1	79674	broad.mit.edu	37	chr3	156978980	156978980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcttgggcaactgccacGttgatgcactggagccattc	12	11	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr3:156978980G>A	ENST00000362010.2	-	14	2752	c.2445C>T	c.(2443-2445)aaC>aaT	p.N815N	RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.N815N|VEPH1_ENST00000392833.2_Silent_p.N770N|VEPH1_ENST00000543418.1_Silent_p.N770N|RP11-550I24.2_ENST00000475102.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	815	PH.					plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CAACTGCCACGTTGATGCACT	0.448													False	0	False	3:156978980	0	A	156978980	G	A	156978980	2	1	9	1	0	0	0	0	0	0	0	1	17238	1136	40	1		1	VEPH1	3	156978980	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08		156978980	41043450	15	670											
MAN2B2	23324	broad.mit.edu	37	chr4	6596365	6596365	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagctcggtgtctcggtgcaGtatgccacgctgggcgacta	15	11	1	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr4:6596365G>C	ENST00000285599.3	+	7	999	c.963G>C	c.(961-963)caG>caC	p.Q321H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.Q270H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	321					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCTCGGTGCAGTATGCCACGC	0.597													False	0	False	4:6596365	0	C	6596365	G	C	6596365	3	2	9	1	0	0	0	0	1	0	0	0	9284	1020	36	5	989	5	MAN2B2	4	6596365	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08		6596365	184557911	16	671											
SORCS2	57537	broad.mit.edu	37	chr4	7666172	7666172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccacgggtctctgaccGtgcaggacgattacatcttc	10	12	2	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr4:7666172G>A	ENST00000507866.2	+	7	1154	c.1045G>A	c.(1045-1047)Gtg>Atg	p.V349M	SORCS2_ENST00000329016.9_Missense_Mutation_p.V177M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	349						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GTCTCTGACCGTGCAGGACGA	0.532													False	0	False	4:7666172	0	A	7666172	G	A	7666172	3	1	9	1	0	0	0	0	1	0	0	0	15011	1145	40	1	1071	1	SORCS2	4	7666172	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	1069807	7666172	183488104	17	672											
MTMR12	54545	broad.mit.edu	37	chr5	32229910	32229910	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcccctaggtccacgaactCatcttctcgtttggccaaat	6	14	3	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:32229910C>T	ENST00000382142.3	-	16	2388	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	MTMR12_ENST00000264934.5_Missense_Mutation_p.E630K|MTMR12_ENST00000280285.5_Missense_Mutation_p.E686K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	740						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCACGAACTCATCTTCTCGT	0.507													False	0	False	5:32229910	0	T	32229910	C	T	32229910	3	4	9	1	0	0	0	0	1	0	0	0	10008	835	29	2	29	2	MTMR12	5	32229910	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08		32229910	148685350	18	673											
ENC1	8507	broad.mit.edu	37	chr5	73930609	73930609	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagtacgggacagtggtgaTgctgttccacacgtctaatg	13	9	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:73930609T>C	ENST00000302351.4	-	2	2832	c.1702A>G	c.(1702-1704)Atc>Gtc	p.I568V	ENC1_ENST00000510316.1_Missense_Mutation_p.I495V|ENC1_ENST00000537006.1_Missense_Mutation_p.I568V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	568				YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532).	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ACAGTGGTGATGCTGTTCCAC	0.473													False	0	False	5:73930609	0	C	73930609	T	C	73930609	3	2	9	1	0	0	0	0	1	0	0	0	5145	1464	51	4	71	4	ENC1	5	73930609	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08	41700699	73930609	106984651	19	674											
CMYA5	202333	broad.mit.edu	37	chr5	79031709	79031709	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagtgatcaaaaacaaaaatCactcctttcatttgatgtag	5	7	3	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:79031709C>A	ENST00000446378.2	+	2	7152	c.7121C>A	c.(7120-7122)tCa>tAa	p.S2374*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2374						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAACAAAAATCACTCCTTTCA	0.368													False	0	False	5:79031709	0	A	79031709	C	A	79031709	4	1	9	1	0	0	0	0	0	1	0	0	3613	838	29	3	7127	3	CMYA5	5	79031709	Nonsense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	5101100	79031709	101883551	20	675											
PCDHA7	0	broad.mit.edu	37	chr5	140214165	140214165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccgcgcctgttccgggCggtgtgcaaattccgtgggg	18	11	0	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:140214165C>T	ENST00000525929.1	+	1	197	c.197C>T	c.(196-198)gCg>gTg	p.A66V	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A66V|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTCCGGGCGGTGTGCAAA	0.617													False	0	True	5:140214165	0	T	140214165	C	T	140214165	3	4	9	1	0	0	0	0	1	0	0	0	11597	768	27	1	199	1	PCDHA7	5	140214165	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	61182456	140214165	40701095	21	676											
AGER	177	broad.mit.edu	37	chr6	32151673	32151673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaccagtttccattccagCcgctggggtggtttcttggg	12	11	1	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr6:32151673C>T	ENST00000375076.4	-	2	245	c.144G>A	c.(142-144)cgG>cgA	p.R48R	AGER_ENST00000375069.3_5'UTR|AGER_ENST00000375067.3_Silent_p.R48R|AGER_ENST00000375070.3_Silent_p.R79R|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000438221.2_Silent_p.R48R|AGER_ENST00000375065.5_Silent_p.R48R|AGER_ENST00000538695.1_Silent_p.R48R|AGER_ENST00000375055.2_Silent_p.R48R	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	48	Ig-like V-type.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCATTCCAGCCGCTGGGGTG	0.582													False	0	False	6:32151673	0	T	32151673	C	T	32151673	2	4	9	1	0	0	0	0	0	0	0	1	379	726	26	2		2	AGER	6	32151673	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08		32151673	138963394	22	677											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067087	18067087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacaagcttggcagagaTtggggaccggctcttatcct	12	10	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:18067087T>C	ENST00000506618.2	-	1	399	c.319A>G	c.(319-321)Atc>Gtc	p.I107V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	107					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TTGGCAGAGATTGGGGACCGG	0.463													False	0	False	7:18067087	0	C	18067087	T	C	18067087	3	2	9	1	0	0	0	0	1	0	0	0	12655	1493	52	4	641	4	PRPS1L1	7	18067087	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08		18067087	141071576	23	678											
ZMIZ2	83637	broad.mit.edu	37	chr7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-													aagcggcagctgctgcagctGtggctgctgcggcagccact					rs142075074	by1000genomes	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678													False	1	False	7:44797065	0	-	44797109	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	44797065	7	5	9	1	0	1	0	1	0	0	0	0	17780	1377	48	0	471	0	ZMIZ2	7	44797065	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	TCGA-2J-AABH-01A-21D-A40W-08	26729978	44797065	114341598	24	679											
POM121C	100101267	broad.mit.edu	37	chr7	75051015	75051015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgccagcgggggctgcCgaacccccaaacgtgaaggg	14	15	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:75051015C>T	ENST00000453279.2	-	13	3384	c.2520G>A	c.(2518-2520)tcG>tcA	p.S840S	POM121C_ENST00000257665.5_Silent_p.S1082S	NM_001099415.1	NP_001092885	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1082	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CGGGGGCTGCCGAACCCCCAA	0.652													False	0	False	7:75051015	0	T	75051015	C	T	75051015	2	4	9	1	0	0	0	0	0	0	0	1	12309	639	23	1		1	POM121C	7	75051015	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	30253950	75051015	84087648	25	680											
ABCB1	5243	broad.mit.edu	37	chr7	87138791	87138791	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgctttatttctttgccatCaagcagctgaaaacaagagt	7	9	2	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:87138791C>A	ENST00000265724.3	-	27	3706	c.3289G>T	c.(3289-3291)Gat>Tat	p.D1097Y	ABCB1_ENST00000543898.1_Missense_Mutation_p.D1033Y|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1097	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCTTTGCCATCAAGCAGCTGA	0.453													False	0	False	7:87138791	0	A	87138791	C	A	87138791	3	1	9	1	0	0	0	0	1	0	0	0	40	826	29	3	565	3	ABCB1	7	87138791	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	12087776	87138791	71999872	26	681											
ARC	23237	broad.mit.edu	37	chr8	143694586	143694586	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcacctccatgcccctctgGatgagctgctccagggtctt	10	15	2	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:143694586G>T	ENST00000356613.2	-	1	2247	c.1047C>A	c.(1045-1047)atC>atA	p.I349I		NM_015193.4	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	349					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGCCCCTCTGGATGAGCTGCT	0.697													False	0	False	8:143694586	0	T	143694586	G	T	143694586	2	4	9	1	0	0	0	0	0	0	0	1	843	1164	41	3		3	ARC	8	143694586	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08		143694586	2669436	27	682			1	2		2	2	40	G		8.062539e-05
ARC	23237	broad.mit.edu	37	chr8	143694625	143694625	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgggcagggggtggcgcagGaaacgcttgagcttgggctg	20	7	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:143694625G>A	ENST00000356613.2	-	1	2208	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_015193.4	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	336					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GGTGGCGCAGGAAACGCTTGA	0.682													False	0	True	8:143694625	0	A	143694625	G	A	143694625	2	1	9	1	0	0	0	0	0	0	0	1	843	1165	41	2		2	ARC	8	143694625	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	39	143694625	2669397	28	683			1	2		2	2	40	G		8.062539e-05
PLEC	5339	broad.mit.edu	37	chr8	145027910	145027910	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcacctttgagggagctgatCtcgttctggatggctcgcga	14	10	2	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:145027910C>T	ENST00000354958.2	-	1	178	c.30G>A	c.(28-30)gaG>gaA	p.E10E	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron	NM_201379.1	NP_958781.1	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGAGCTGATCTCGTTCTGGA	0.726													False	0	False	8:145027910	0	T	145027910	C	T	145027910	2	4	9	1	0	0	0	0	0	0	0	1	12121	912	32	2		2	PLEC	8	145027910	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	1333285	145027910	1336112	29	684											
ARHGAP39	80728	broad.mit.edu	37	chr8	145756121	145756121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtagcacagcaccatgcGgttgatgcggggcagcgcgt	17	10	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:145756121G>A	ENST00000276826.5	-	9	3223	c.3022C>T	c.(3022-3024)Cgc>Tgc	p.R1008C	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R1008C|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1039C			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	1008	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						AGCACCATGCGGTTGATGCGG	0.721													False	0	False	8:145756121	0	A	145756121	G	A	145756121	3	1	9	1	0	0	0	0	1	0	0	0	886	1116	39	1	237	1	ARHGAP39	8	145756121	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	728211	145756121	607901	30	685											
CBWD3	445571	broad.mit.edu	37	chr9	70871889	70871889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattagggagtgatatttaCcttgatggtaagttaaaaaa	10	2	0	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294													False	0	False	9:70871889	0	T	70871889	C	T	70871889	2	4	9	1	0	0	0	0	0	0	0	1	2734	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08		70871889	70341542	31	686											
ANGPTL2	23452	broad.mit.edu	37	chr9	129851341	129851341	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccggtaatggcccccgcgGtaccagaccccgttgaggtt	12	15	0	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:129851341G>T	ENST00000373425.3	-	5	1976	c.1359C>A	c.(1357-1359)taC>taA	p.Y453*	RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.Y151*	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	453	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GGCCCCCGCGGTACCAGACCC	0.582													False	0	False	9:129851341	0	T	129851341	G	T	129851341	4	4	9	1	0	0	0	0	0	1	0	0	614	1256	44	3	126	3	ANGPTL2	9	129851341	Nonsense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	58979452	129851341	11362090	32	687											
CARD9	64170	broad.mit.edu	37	chr9	139266428	139266428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaggaccttgcactgccGcaggtaaggtgtgatgcgtg	15	9	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:139266428G>A	ENST00000371732.5	-	2	268	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	CARD9_ENST00000371734.3_Missense_Mutation_p.R35W|CARD9_ENST00000315908.7_Missense_Mutation_p.R35W	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	35	CARD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TTGCACTGCCGCAGGTAAGGT	0.627													False	0	False	9:139266428	0	A	139266428	G	A	139266428	3	1	9	1	0	0	0	0	1	0	0	0	2672	1086	38	1	1608	1	CARD9	9	139266428	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	9415087	139266428	1947003	33	688											
ANK3	288	broad.mit.edu	37	chr10	61844558	61844558	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctaaccccacagtttcTaaaacttgatggcagtctgc	9	11	2	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:61844558T>C	ENST00000280772.2	-	32	4067	c.3876A>G	c.(3874-3876)ttA>ttG	p.L1292L	ANK3_ENST00000373827.2_Silent_p.L1286L|ANK3_ENST00000355288.2_Silent_p.L426L|ANK3_ENST00000503366.1_Silent_p.L1293L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCACAGTTTCTAAAACTTGAT	0.363													False	0	True	10:61844558	0	C	61844558	T	C	61844558	2	2	9	1	0	0	0	0	0	0	0	1	622	1519	53	4		4	ANK3	10	61844558	Silent	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08		61844558	73690189	34	689											
CCAR1	55749	broad.mit.edu	37	chr10	70516196	70516196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatacaagcagcagctgGtcgagaagcttcagggtgaa	15	7	1	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:70516196G>A	ENST00000265872.6	+	14	1911	c.1792G>A	c.(1792-1794)Gtc>Atc	p.V598I	CCAR1_ENST00000543719.1_Missense_Mutation_p.V583I|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000535016.1_Missense_Mutation_p.V583I	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	598					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GCAGCAGCTGGTCGAGAAGCT	0.522													False	0	False	10:70516196	0	A	70516196	G	A	70516196	3	1	9	1	0	0	0	0	1	0	0	0	2750	1261	44	2	1842	2	CCAR1	10	70516196	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	8671638	70516196	65018551	35	690											
B3GAT3	26229	broad.mit.edu	37	chr11	62389371	62389371	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtagaggaggccggcgaTcgacaccaggaagtaggcga	17	10	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:62389371T>A	ENST00000531383.1	-	1	255	c.49A>T	c.(49-51)Atc>Ttc	p.I17F	B3GAT3_ENST00000534026.1_Missense_Mutation_p.I17F|B3GAT3_ENST00000265471.5_Missense_Mutation_p.I17F			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	17					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						AGGCCGGCGATCGACACCAGG	0.746													False	0	False	11:62389371	0	A	62389371	T	A	62389371	3	1	9	1	0	0	0	0	1	0	0	0	1259	1435	50	5	978	5	B3GAT3	11	62389371	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08		62389371	72617145	36	691											
POLR2G	5436	broad.mit.edu	37	chr11	62533969	62533969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttctggtttcgcagggcTtgtaagctgagcctggtggc	14	8	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:62533969T>C	ENST00000301788.7	+	8	614	c.509T>C	c.(508-510)cTt>cCt	p.L170P		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	170					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding			lung(3)	3						TTCGCAGGGCTTGTAAGCTGA	0.488													False	0	False	11:62533969	0	C	62533969	T	C	62533969	3	2	9	1	0	0	0	0	1	0	0	0	12289	1609	56	4	539	4	POLR2G	11	62533969	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08	144598	62533969	72472547	37	692											
SLCO2B1	11309	broad.mit.edu	37	chr11	74915507	74915507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcgccttagttttggCtgtcctgaggcagcaggaca	12	11	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:74915507C>T	ENST00000289575.5	+	14	2407	c.2012C>T	c.(2011-2013)gCt>gTt	p.A671V	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.A527V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.A649V|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.A444V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.A444V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.A555V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	671					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TTAGTTTTGGCTGTCCTGAGG	0.542													False	0	False	11:74915507	0	T	74915507	C	T	74915507	3	4	9	1	0	0	0	0	1	0	0	0	14807	797	28	2	2066	2	SLCO2B1	11	74915507	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	12381538	74915507	60091009	38	693											
PRSS23	11098	broad.mit.edu	37	chr11	86518765	86518765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgagcccttacagtgcccCctggaaacccacttggcctg	10	15	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:86518765C>T	ENST00000280258.5	+	2	505	c.80C>T	c.(79-81)cCc>cTc	p.P27L	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.P27L	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	27					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACAGTGCCCCCTGGAAACCC	0.547													False	0	True	11:86518765	0	T	86518765	C	T	86518765	3	4	9	1	0	0	0	0	1	0	0	0	12696	623	22	2	82	2	PRSS23	11	86518765	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	11603258	86518765	48487751	39	694											
C1S	716	broad.mit.edu	37	chr12	7177305	7177305	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgagtactgggtgctgacgGctgctcatgttgtggaggga	17	6	1	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:7177305G>T	ENST00000406697.1	+	15	2045	c.1417G>T	c.(1417-1419)Gct>Tct	p.A473S	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.A306S|C1S_ENST00000328916.3_Missense_Mutation_p.A473S|C1S_ENST00000360817.5_Missense_Mutation_p.A473S			P09871	C1S_HUMAN	complement component 1, s subcomponent	473	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGTGCTGACGGCTGCTCATGT	0.517													False	0	False	12:7177305	0	T	7177305	G	T	7177305	3	4	9	1	0	0	0	0	1	0	0	0	1989	1203	42	3	1459	3	C1S	12	7177305	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08		7177305	126674590	40	695											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A													aggcactcttgcctacgccaCcagctccaactaccacaagt					rs121913529		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	9	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	18220979	25398284	108453611	41	696	6	2									
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T													ggcactcttgcctacgccacCagctccaactaccacaagtt					rs121913530		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:25398285C>T	ENST00000311936.3	-	2	225	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	KRAS_ENST00000256078.4_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000556131.1_Missense_Mutation_p.G12S	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	T	25398285	C	T	25398285	3	4	9	1	0	0	0	0	1	0	0	0	8488	594	21	2	672	2	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	1	25398285	108453610	42	697	6	2									
TRPV4	59341	broad.mit.edu	37	chr12	110230539	110230539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatccagcccaggaccaggGcaaagaccatcacggccagg	11	15	2	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:110230539G>A	ENST00000418703.2	-	10	1836	c.1742C>T	c.(1741-1743)gCc>gTc	p.A581V	TRPV4_ENST00000537083.1_Missense_Mutation_p.A521V|TRPV4_ENST00000544971.1_Missense_Mutation_p.A474V|TRPV4_ENST00000536838.1_Missense_Mutation_p.A547V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A521V|TRPV4_ENST00000541794.1_Missense_Mutation_p.A534V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A534V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A581V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	581					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CAGGACCAGGGCAAAGACCAT	0.587													False	0	True	12:110230539	0	A	110230539	G	A	110230539	3	1	9	1	0	0	0	0	1	0	0	0	16681	1203	42	2	897	2	TRPV4	12	110230539	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	84832254	110230539	23621356	43	698											
NAA25	80018	broad.mit.edu	37	chr12	112530884	112530884	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaagatccttatgtttctTcaacagtttatctgcttgct	6	8	3	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:112530884T>C	ENST00000261745.4	-	2	363	c.115A>G	c.(115-117)Aag>Gag	p.K39E		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	39						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TTATGTTTCTTCAACAGTTTA	0.313													False	0	False	12:112530884	0	C	112530884	T	C	112530884	3	2	9	1	0	0	0	0	1	0	0	0	10188	1792	62	4	2895	4	NAA25	12	112530884	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08	2300345	112530884	21321011	44	699											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123682836	123682836	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttattttcaagtgttctCacgcgactagtagcttcatg	7	9	4	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:123682836C>T	ENST00000606320.1	-	12	2189	c.1983G>A	c.(1981-1983)gtG>gtA	p.V661V	MPHOSPH9_ENST00000302349.5_Silent_p.V509V|MPHOSPH9_ENST00000541076.2_Silent_p.V631V|MPHOSPH9_ENST00000392425.3_Silent_p.V509V			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	509					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CAAGTGTTCTCACGCGACTAG	0.323													False	0	False	12:123682836	0	T	123682836	C	T	123682836	2	4	9	1	0	0	0	0	0	0	0	1	9795	813	29	2		2	MPHOSPH9	12	123682836	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	11151952	123682836	10169059	45	700											
ZMYM5	9205	broad.mit.edu	37	chr13	20409664	20409664	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagcaaaatctcttctgctGacctccaatcaccaggatgt	7	13	3	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:20409664G>A	ENST00000337963.4	-	7	1468	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	402						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CTCTTCTGCTGACCTCCAATC	0.378													False	0	False	13:20409664	0	A	20409664	G	A	20409664	4	1	9	1	0	0	0	0	0	1	0	0	17786	1299	45	2	813	2	ZMYM5	13	20409664	Nonsense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08		20409664	94760214	46	701											
OR4E2	26686	broad.mit.edu	37	chr14	22133993	22133993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacactcagctgaagggCgccagaaagccctgtctacc	10	13	2	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:22133993C>T	ENST00000408935.1	+	1	697	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AGCTGAAGGGCGCCAGAAAGC	0.527													False	0	True	14:22133993	0	T	22133993	C	T	22133993	3	4	9	1	0	0	0	0	1	0	0	0	11128	768	27	1	699	1	OR4E2	14	22133993	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08		22133993	85215547	47	702											
MYH7	4625	broad.mit.edu	37	chr14	23893229	23893229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgcgcttcttggcagTgagctcagcattcatctcct	9	13	4	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:23893229T>C	ENST00000355349.3	-	23	2971	c.2809A>G	c.(2809-2811)Act>Gct	p.T937A		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	937					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTTGGCAGTGAGCTCAGCA	0.522													False	0	False	14:23893229	0	C	23893229	T	C	23893229	3	2	9	1	0	0	0	0	1	0	0	0	10106	1696	59	4	3070	4	MYH7	14	23893229	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08	1759236	23893229	83456311	48	703											
SYT16	83851	broad.mit.edu	37	chr14	62547800	62547800	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agagggcccaaccccgtcttCagggagaaggtcacctttgc	12	13	3	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:62547800C>T	ENST00000430451.2	+	4	1439	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	414	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACCCCGTCTTCAGGGAGAAGG	0.582													False	0	False	14:62547800	0	T	62547800	C	T	62547800	2	4	9	1	0	0	0	0	0	0	0	1	15554	825	29	2		2	SYT16	14	62547800	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	38654571	62547800	44801740	49	704											
ZWILCH	55055	broad.mit.edu	37	chr15	66832448	66832448	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccttagtgagaagccacaGaaatggagagtggaaatata	11	5	0	3			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr15:66832448G>A	ENST00000307897.5	+	17	1967	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q	ZWILCH_ENST00000446801.2_Silent_p.Q415Q|ZWILCH_ENST00000565627.1_Silent_p.Q415Q|ZWILCH_ENST00000535141.2_Silent_p.Q415Q	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	529					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AGAAGCCACAGAAATGGAGAG	0.373													False	0	True	15:66832448	0	A	66832448	G	A	66832448	2	1	9	1	0	0	0	0	0	0	0	1	18330	933	33	2		2	ZWILCH	15	66832448	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08		66832448	35698944	50	705											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1811270	1811270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccgtgaacccaaagaagaGgcggaggatgtaagcagcta	14	9	0	3			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:1811270G>T	ENST00000250894.4	+	13	1657	c.1500G>T	c.(1498-1500)gaG>gaT	p.E500D	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E494D	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	500					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCAAAGAAGAGGCGGAGGATG	0.602													False	0	False	16:1811270	0	T	1811270	G	T	1811270	3	4	9	1	0	0	0	0	1	0	0	0	9353	991	35	3	1566	3	MAPK8IP3	16	1811270	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08		1811270	88543483	51	706											
PRRT2	112476	broad.mit.edu	37	chr16	29824835	29824835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcccagcctacccccaagCcagcccttcaaccagagctc	5	20	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:29824835C>T	ENST00000300797.6	+	2	634	c.460C>T	c.(460-462)Cca>Tca	p.P154S	PRRT2_ENST00000358758.7_Missense_Mutation_p.P154S|PRRT2_ENST00000567551.1_Intron|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567659.1_Missense_Mutation_p.P154S			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	154	Pro-rich.				response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TACCCCCAAGCCAGCCCTTCA	0.637													False	0	True	16:29824835	0	T	29824835	C	T	29824835	3	4	9	1	0	0	0	0	1	0	0	0	12686	739	26	2	462	2	PRRT2	16	29824835	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	28013565	29824835	60529918	52	707											
TP53	7157	broad.mit.edu	37	chr17	7579503	7579503	+	Frame_Shift_Del	DEL	C	C	-													ctctggcattctgggagcttCatctggacctgggtcttcag							TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:7579503delC	ENST00000420246.2	-	4	316	c.184delG	c.(184-186)gaafs	p.E62fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.E62fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E62fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E62fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	62	Interaction with HRMT1L2.		E -> D (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E62*(8)|p.E62K(3)|p.G59fs*23(3)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGGGAGCTTCATCTGGACCT	0.617		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)			False	1	False	17:7579503	0	-	7579503	C	-	7579503	7	5	9	1	0	1	0	1	0	0	0	0	16464	835	29	0	1118	0	TP53	17	7579503	Frame_Shift_Del	DEL	C	TCGA-2J-AABH-01A-21D-A40W-08		7579503	73615707	53	708											
PPP1R1B	84152	broad.mit.edu	37	chr17	37785436	37785451	+	Frame_Shift_Del	DEL	GACCAACGCCTGCCAT	GACCAACGCCTGCCAT	-													tccttagatccggcgcaggaGaccaacgcctgccatgctgt					rs139161053	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	GACCAACGCCTGCCAT	GACCAACGCCTGCCAT	-	-	GACCAACGCCTGCCAT	GACCAACGCCTGCCAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:37785436_37785451delGACCAACGCCTGCCAT	ENST00000254079.4	+	2	564_579	c.95_110delGACCAACGCCTGCCAT	c.(94-111)agaccaacgcctgccatgfs	p.RPTPAM32fs	PPP1R1B_ENST00000394265.1_Start_Codon_Del|PPP1R1B_ENST00000579000.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000580825.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000394267.2_Start_Codon_Del	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	32					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	p.P33A(1)		kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGCGCAGGAGACCAACGCCTGCCATGCTGTTCCGG	0.648													False	1	False	17:37785436	0	-	37785451	GACCAACGCCTGCCAT	-	37785436	7	5	9	1	0	1	0	1	0	0	0	0	12442	942	33	0	101	0	PPP1R1B	17	37785436	Frame_Shift_Del	DEL	GACCAACGCCTGCCAT	TCGA-2J-AABH-01A-21D-A40W-08	30205933	37785436	43409774	54	709											
KRTAP9-3	83900	broad.mit.edu	37	chr17	39389087	39389087	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctaccaccccacaagtgttTgtctgcctggttgcctaaac	8	14	1	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:39389087T>G	ENST00000411528.2	+	1	373	c.334T>G	c.(334-336)Tgt>Ggt	p.C112G		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	112	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding	p.P114fs*3(1)		breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CACAAGTGTTTGTCTGCCTGG	0.602													False	0	True	17:39389087	0	G	39389087	T	G	39389087	3	3	9	1	0	0	0	0	1	0	0	0	8625	1812	63	4	336	4	KRTAP9-3	17	39389087	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08	1603651	39389087	41806123	55	710											
HDAC5	10014	broad.mit.edu	37	chr17	42160137	42160137	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatctagggcactcacatggCtgtggattcctcggcgtggt	13	10	2	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:42160137C>A	ENST00000225983.6	-	19	2841	c.2518G>T	c.(2518-2520)Gcc>Tcc	p.A840S	HDAC5_ENST00000393622.2_Missense_Mutation_p.A839S|HDAC5_ENST00000586802.1_Missense_Mutation_p.A839S|HDAC5_ENST00000336057.5_Missense_Mutation_p.A754S			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	839	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACTCACATGGCTGTGGATTCC	0.602													False	0	False	17:42160137	0	A	42160137	C	A	42160137	3	1	9	1	0	0	0	0	1	0	0	0	7057	797	28	3	889	3	HDAC5	17	42160137	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	2771050	42160137	39035073	56	711											
TXNDC2	0	broad.mit.edu	37	chr18	9886941	9886941	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccccaagtcctcagcaaaAcccatccagcccaagctggg	7	17	1	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr18:9886941A>G	ENST00000357775.5	+	2	499	c.264A>G	c.(262-264)aaA>aaG	p.K88K	TXNDC2_ENST00000306084.6_Silent_p.K155K|TXNDC2_ENST00000536353.2_Silent_p.K88K	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)						cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCTCAGCAAAACCCATCCAGC	0.547													False	0	True	18:9886941	0	G	9886941	A	G	9886941	2	3	9	1	0	0	0	0	0	0	0	1	16881	40	2	4		4	TXNDC2	18	9886941	Silent	SNP	A	TCGA-2J-AABH-01A-21D-A40W-08		9886941	68190307	57	712											
GRIN3B	116444	broad.mit.edu	37	chr19	1005311	1005311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtagcccctacggcctcaCgccacgtggccgcaaccgca	11	19	1	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:1005311C>T	ENST00000234389.3	+	3	1830	c.1811C>T	c.(1810-1812)aCg>aTg	p.T604M		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	604					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TACGGCCTCACGCCACGTGGC	0.662													False	0	False	19:1005311	0	T	1005311	C	T	1005311	3	4	9	1	0	0	0	0	1	0	0	0	6831	536	19	1	1821	1	GRIN3B	19	1005311	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08		1005311	58123672	58	713											
C19orf26	255057	broad.mit.edu	37	chr19	1236016	1236016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggcgtccagtggcattGtcccacgacgtcgtcagggc	16	12	1	0	rs146688767		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:1236016G>A	ENST00000590083.1	-	2	376	c.84C>T	c.(82-84)gaC>gaT	p.D28D	C19orf26_ENST00000215376.6_Silent_p.D22D|C19orf26_ENST00000382477.2_Silent_p.D22D			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	22	Thr-rich.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGGCATTGTCCCACGACG	0.687										HNSCC(14;0.022)			False	0	False	19:1236016	0	A	1236016	G	A	1236016	2	1	9	1	0	0	0	0	0	0	0	1	1931	1368	48	2		2	C19orf26	19	1236016	Silent	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	230705	1236016	57892967	59	714											
RYR1	6261	broad.mit.edu	37	chr19	38994959	38994959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggagctgcacctcacaCggaaactcttctggggcatc	12	12	3	0			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:38994959C>T	ENST00000355481.4	+	50	8157	c.8026C>T	c.(8026-8028)Cgg>Tgg	p.R2676W	RYR1_ENST00000359596.3_Missense_Mutation_p.R2676W|RYR1_ENST00000360985.3_Missense_Mutation_p.R2676W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2676	6 X approximate repeats.		R -> W (in MHS1; located on the same allele as S-2787; dbSNP:rs28934001).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCACCTCACACGGAAACTCTT	0.582													False	0	False	19:38994959	0	T	38994959	C	T	38994959	3	4	9	1	0	0	0	0	1	0	0	0	13847	527	19	1	8224	1	RYR1	19	38994959	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	37758943	38994959	20134024	60	715											
ZNF780A	284323	broad.mit.edu	37	chr19	40580912	40580912	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagccacgattgaaggccttCccacagtcttgacattcaaa	8	12	2	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:40580912C>T	ENST00000450241.2	-	6	1646	c.1335G>A	c.(1333-1335)ggG>ggA	p.G445G	ZNF780A_ENST00000340963.5_Silent_p.G479G|ZNF780A_ENST00000455521.1_Silent_p.G480G|ZNF780A_ENST00000595687.2_Silent_p.G479G|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Silent_p.G480G|AC005614.5_ENST00000595508.1_RNA			O75290	Z780A_HUMAN	zinc finger protein 780A	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAAGGCCTTCCCACAGTCTT	0.423													False	0	True	19:40580912	0	T	40580912	C	T	40580912	2	4	9	1	0	0	0	0	0	0	0	1	18234	842	30	2		2	ZNF780A	19	40580912	Silent	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08	1585953	40580912	18548071	61	716											
FUZ	80199	broad.mit.edu	37	chr19	50314661	50314661	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaatcacgcagtccacacActgggtcaggtccccgatga	11	13	2	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:50314661A>G	ENST00000313777.4	-	5	614	c.451T>C	c.(451-453)Tgt>Cgt	p.C151R	FUZ_ENST00000528094.1_Missense_Mutation_p.C115R|FUZ_ENST00000533418.1_Missense_Mutation_p.C101R|FUZ_ENST00000445575.2_Missense_Mutation_p.C151R|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000534008.1_5'UTR	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	151					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		CAGTCCACACACTGGGTCAGG	0.572													False	0	True	19:50314661	0	G	50314661	A	G	50314661	3	3	9	1	0	0	0	0	1	0	0	0	6154	159	6	4	833	4	FUZ	19	50314661	Missense_Mutation	SNP	A	TCGA-2J-AABH-01A-21D-A40W-08	9733749	50314661	8814322	62	717											
SIRPA	140885	broad.mit.edu	37	chr20	1902206	1902206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccaacgtggaccccgTaggagagagcgtgtcctaca	12	13	0	2			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr20:1902206T>C	ENST00000358771.4	+	3	754	c.602T>C	c.(601-603)gTa>gCa	p.V201A	SIRPA_ENST00000400068.3_Missense_Mutation_p.V201A|SIRPA_ENST00000356025.3_Missense_Mutation_p.V201A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	201	Ig-like C1-type 1.		VG -> AR.		blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GTGGACCCCGTAGGAGAGAGC	0.572													False	0	False	20:1902206	0	C	1902206	T	C	1902206	3	2	9	1	0	0	0	0	1	0	0	0	14413	1638	57	4	612	4	SIRPA	20	1902206	Missense_Mutation	SNP	T	TCGA-2J-AABH-01A-21D-A40W-08		1902206	61123314	63	718											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220336	130220336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaggcaggttgctaagCgcgtgtggaagtccagcccg	15	10	1	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:130220336C>T	ENST00000276211.5	+	10	1660	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	439					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R439C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGTTGCTAAGCGCGTGTGGAA	0.453													False	0	False	X:130220336	0	T	130220336	C	T	130220336	3	4	9	1	0	0	0	0	1	0	0	0	885	768	27	1	1349	1	ARHGAP36	23	130220336	Missense_Mutation	SNP	C	TCGA-2J-AABH-01A-21D-A40W-08		130220336	25050224	64	719											
TREX2	11219	broad.mit.edu	37	chrX	152710707	152710707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccgggcacatgcacagcGtgagcttgtccaggacccgg	14	14	0	1			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:152710707G>A	ENST00000330912.2	-	13	1732	c.182C>T	c.(181-183)aCg>aTg	p.T61M	TREX2_ENST00000370231.2_Missense_Mutation_p.T61M|TREX2_ENST00000338525.2_Missense_Mutation_p.T61M|TREX2_ENST00000370232.1_Missense_Mutation_p.T104M|TREX2_ENST00000393862.2_Missense_Mutation_p.T61M|TREX2_ENST00000414588.1_Missense_Mutation_p.T103M|TREX2_ENST00000334497.2_Missense_Mutation_p.T104M|TREX2_ENST00000402951.1_Missense_Mutation_p.T104M			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	104					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGCACAGCGTGAGCTTGTC	0.657								Editing and processing nucleases					False	0	False	X:152710707	0	A	152710707	G	A	152710707	3	1	9	1	0	0	0	0	1	0	0	0	16560	1145	40	1	531	1	TREX2	23	152710707	Missense_Mutation	SNP	G	TCGA-2J-AABH-01A-21D-A40W-08	22490371	152710707	2559853	65	720											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	10	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-2J-AABK-01A-31D-A40W-08		22987385	226263236	1	721											
EPHB2	2048	broad.mit.edu	37	chr1	23111370	23111370	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcatcatccagaatggCgccatcttccaggaaaccct	7	17	2	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:23111370C>A	ENST00000400191.3	+	3	630	c.612C>A	c.(610-612)ggC>ggA	p.G204G	EPHB2_ENST00000544305.1_Silent_p.G204G|EPHB2_ENST00000374627.1_Silent_p.G198G|EPHB2_ENST00000374630.3_Silent_p.G204G|EPHB2_ENST00000374632.3_Silent_p.G204G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	204	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCCAGAATGGCGCCATCTTCC	0.627													False	0	False	1:23111370	0	A	23111370	C	A	23111370	2	1	10	1	0	0	0	0	0	0	0	1	5207	755	27	3		3	EPHB2	1	23111370	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	123985	23111370	226139251	2	722											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948837	37948837	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgggctacagtccctatggAtctgagctcccagccaccgc	10	16	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:37948837A>T	ENST00000373087.6	+	6	1541	c.1425A>T	c.(1423-1425)ggA>ggT	p.G475G		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	475	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCCCTATGGATCTGAGCTCC	0.677													False	0	False	1:37948837	0	T	37948837	A	T	37948837	2	4	10	1	0	0	0	0	0	0	0	1	17644	320	12	5		5	ZC3H12A	1	37948837	Silent	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	14837467	37948837	211301784	3	723											
GSTM5	2949	broad.mit.edu	37	chr1	110254908	110254908	+	Translation_Start_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccccgctccgctgatgcctgTctgcagaatccgcaccaacc	8	19	1	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:110254908T>A	ENST00000369813.1	+	0	31				GSTM5_ENST00000256593.3_De_novo_Start_OutOfFrame|GSTM5_ENST00000369812.5_De_novo_Start_OutOfFrame			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5						xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CTGATGCCTGTCTGCAGAATC	0.682													False	0	False	1:110254908	0	A	110254908	T	A	110254908	1	1	10	1	0	0	0	0	0	0	0	0	6888	1682	58	5		5	GSTM5	1	110254908	Translation_Start_Site	SNP	T	TCGA-2J-AABK-01A-31D-A40W-08	72306071	110254908	138995713	4	724											
MLLT11	10962	broad.mit.edu	37	chr1	151039879	151039879	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcagaccaggagaaaaAccctgaaggtgatggcctcc	12	11	0	4			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:151039879A>G	ENST00000368921.3	+	2	2981	c.179A>G	c.(178-180)aAc>aGc	p.N60S	CDC42SE1_ENST00000439374.2_Intron	NM_006818.3	NP_006809.1	Q13015	AF1Q_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11	60					positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent					upper_aerodigestive_tract(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGGAGAAAAACCCTGAAGGT	0.532													False	0	True	1:151039879	0	G	151039879	A	G	151039879	3	3	10	1	0	0	0	0	1	0	0	0	9694	43	2	4	181	4	MLLT11	1	151039879	Missense_Mutation	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	40784971	151039879	98210742	5	725											
CRNN	49860	broad.mit.edu	37	chr1	152382385	152382385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctctcctgcctcagggttGctcacttgcatccatctttg	8	14	4	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:152382385G>T	ENST00000271835.3	-	3	1235	c.1173C>A	c.(1171-1173)agC>agA	p.S391R	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	391					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCAGGGTTGCTCACTTGCA	0.602													False	0	False	1:152382385	0	T	152382385	G	T	152382385	3	4	10	1	0	0	0	0	1	0	0	0	3915	1310	46	3	318	3	CRNN	1	152382385	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	1342506	152382385	96868236	6	726											
APOA1BP	128240	broad.mit.edu	37	chr1	156562457	156562457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttccttggggaaatgcccGcagaggtaggtggctccagt	14	10	0	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:156562457G>A	ENST00000368235.3	+	4	554	c.511G>A	c.(511-513)Gca>Aca	p.A171T	APOA1BP_ENST00000368233.3_Missense_Mutation_p.A171T|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368234.3_Missense_Mutation_p.A171T	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	171	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAAATGCCCGCAGAGGTAGG	0.517													False	0	True	1:156562457	0	A	156562457	G	A	156562457	3	1	10	1	0	0	0	0	1	0	0	0	783	1087	38	1	525	1	APOA1BP	1	156562457	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	4180072	156562457	92688164	7	727											
XPR1	9213	broad.mit.edu	37	chr1	180805698	180805698	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatacatatggtgtgcgggcCattgttcagtgcattcctgc	11	9	1	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:180805698C>A	ENST00000367590.4	+	11	1545	c.1347C>A	c.(1345-1347)gcC>gcA	p.A449A	XPR1_ENST00000367589.3_Intron	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	449	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GTGTGCGGGCCATTGTTCAGT	0.403													False	0	False	1:180805698	0	A	180805698	C	A	180805698	2	1	10	1	0	0	0	0	0	0	0	1	17535	581	21	3		3	XPR1	1	180805698	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	24243241	180805698	68444923	8	728											
HMCN1	83872	broad.mit.edu	37	chr1	186147896	186147896	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagccatgacacatgtgTaggtaaatgtcagccatatt	10	8	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:186147896T>C	ENST00000271588.4	+	104	16521	c.16292T>C	c.(16291-16293)gTa>gCa	p.V5431A	HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5431					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACACATGTGTAGGTAAATGT	0.428													False	0	False	1:186147896	0	C	186147896	T	C	186147896	3	2	10	1	0	0	0	0	1	0	0	0	7267	1638	57	4	16706	4	HMCN1	1	186147896	Missense_Mutation	SNP	T	TCGA-2J-AABK-01A-31D-A40W-08	5342198	186147896	63102725	9	729											
CACNA1S	779	broad.mit.edu	37	chr1	201079379	201079379	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttggcaaagatggtgagcaaGatgatcgtctcgaagggcct	14	7	1	4			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:201079379G>C	ENST00000362061.3	-	2	397	c.171C>G	c.(169-171)atC>atG	p.I57M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I57M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	57					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGTGAGCAAGATGATCGTCT	0.577													False	0	False	1:201079379	0	C	201079379	G	C	201079379	3	2	10	1	0	0	0	0	1	0	0	0	2567	932	33	5	5622	5	CACNA1S	1	201079379	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	14931483	201079379	48171242	10	730											
RYR2	6262	broad.mit.edu	37	chr1	237948081	237948081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaaacccctggaagccGccctgccctccgaggatctg	12	15	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr1:237948081G>A	ENST00000366574.2	+	90	13386	c.13069G>A	c.(13069-13071)Gcc>Acc	p.A4357T	RYR2_ENST00000542537.1_Missense_Mutation_p.A4341T|RYR2_ENST00000360064.6_Missense_Mutation_p.A4363T|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4357					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A4355T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTGGAAGCCGCCCTGCCCTC	0.532													False	0	True	1:237948081	0	A	237948081	G	A	237948081	3	1	10	1	0	0	0	0	1	0	0	0	13848	1087	38	1	13427	1	RYR2	1	237948081	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	36868702	237948081	11302540	11	731											
BIRC6	57448	broad.mit.edu	37	chr2	32774494	32774494	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttctgtacttctcgagcttCtcagtcagtcctgcctcatc	6	15	5	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr2:32774494C>T	ENST00000421745.2	+	65	13224	c.13090C>T	c.(13090-13092)Ctc>Ttc	p.L4364F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4364					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCTCGAGCTTCTCAGTCAGTC	0.433													False	0	True	2:32774494	0	T	32774494	C	T	32774494	3	4	10	1	0	0	0	0	1	0	0	0	1443	913	32	2	13348	2	BIRC6	2	32774494	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08		32774494	210424879	12	732											
CEBPZ	10153	broad.mit.edu	37	chr2	37455921	37455921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctattcttatttttcaCcttattaactgatgtccttt	4	9	2	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr2:37455921C>T	ENST00000234170.5	-	2	560	c.415G>A	c.(415-417)Gtg>Atg	p.V139M		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	139					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTATTTTTCACCTTATTAACT	0.313													False	0	False	2:37455921	0	T	37455921	C	T	37455921	3	4	10	1	0	0	0	0	1	0	0	0	3227	507	18	2	2809	2	CEBPZ	2	37455921	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	4681427	37455921	205743452	13	733											
USP39	10713	broad.mit.edu	37	chr2	85857980	85857980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagaaagctctggaaccCtcgaaatttcaaggcacatg	10	9	2	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr2:85857980C>T	ENST00000323701.6	+	6	870	c.860C>T	c.(859-861)cCt>cTt	p.P287L	USP39_ENST00000409766.3_Missense_Mutation_p.P287L|USP39_ENST00000450066.2_Missense_Mutation_p.P184L|USP39_ENST00000409025.1_Missense_Mutation_p.P287L|USP39_ENST00000409470.1_Missense_Mutation_p.P287L|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	287					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CTCTGGAACCCTCGAAATTTC	0.438													False	0	True	2:85857980	0	T	85857980	C	T	85857980	3	4	10	1	0	0	0	0	1	0	0	0	17154	681	24	2	882	2	USP39	2	85857980	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	48402059	85857980	157341393	14	734											
NBEAL2	23218	broad.mit.edu	37	chr3	47041634	47041634	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgatggcttttaccatgctCtctccccattctgcacgccc	6	17	2	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:47041634C>G	ENST00000450053.3	+	27	4224	c.4045C>G	c.(4045-4047)Ctc>Gtc	p.L1349V	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1349							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTACCATGCTCTCTCCCCATT	0.607													False	0	True	3:47041634	0	G	47041634	C	G	47041634	3	3	10	1	0	0	0	0	1	0	0	0	10256	913	32	5	4151	5	NBEAL2	3	47041634	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08		47041634	150980796	15	735											
WDR6	11180	broad.mit.edu	37	chr3	49049685	49049685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcgtatctggaaggtgggcGacctgcgagtgcctgggggt	18	8	1	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:49049685G>A	ENST00000395474.3	+	2	1088	c.808G>A	c.(808-810)Gac>Aac	p.D270N	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000608424.1_Missense_Mutation_p.D240N|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Missense_Mutation_p.D189N	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	240					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GAAGGTGGGCGACCTGCGAGT	0.552													False	0	False	3:49049685	0	A	49049685	G	A	49049685	3	1	10	1	0	0	0	0	1	0	0	0	17394	1058	37	1	814	1	WDR6	3	49049685	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	2008051	49049685	148972745	16	736											
WNT5A	7474	broad.mit.edu	37	chr3	55508430	55508430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctcgtaggagcccttggCgtggatgcgctcccgctcgc	13	15	1	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:55508430C>T	ENST00000474267.1	-	5	1140	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	WNT5A_ENST00000497027.1_Missense_Mutation_p.A192T|WNT5A_ENST00000264634.4_Missense_Mutation_p.A207T			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	207					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GAGCCCTTGGCGTGGATGCGC	0.682													False	0	False	3:55508430	0	T	55508430	C	T	55508430	3	4	10	1	0	0	0	0	1	0	0	0	17475	768	27	1	531	1	WNT5A	3	55508430	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	6458745	55508430	142514000	17	737											
ALG1L	200810	broad.mit.edu	37	chr3	125651539	125651539	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttgtgtccatcaagagtAagttgttcaaactctgtgtt	10	6	3	1	rs147593769	by1000genomes	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:125651539A>C	ENST00000340333.3	-	3	277	c.114T>G	c.(112-114)ctT>ctG	p.L38L		NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	38							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						CATCAAGAGTAAGTTGTTCAA	0.423													False	0	False	3:125651539	0	C	125651539	A	C	125651539	2	2	10	1	0	0	0	0	0	0	0	1	517	349	13	4		4	ALG1L	3	125651539	Silent	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	70143109	125651539	72370891	18	738											
COL6A6	131873	broad.mit.edu	37	chr3	130354557	130354557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttagggtgagattggggaCcctggtggtccaggagagac	17	6	0	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:130354557C>T	ENST00000358511.6	+	27	5074	c.5043C>T	c.(5041-5043)gaC>gaT	p.D1681D	COL6A6_ENST00000453409.2_Silent_p.D1681D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1681	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGATTGGGGACCCTGGTGGTC	0.373													False	0	True	3:130354557	0	T	130354557	C	T	130354557	2	4	10	1	0	0	0	0	0	0	0	1	3726	506	18	2		2	COL6A6	3	130354557	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	4703018	130354557	67667873	19	739											
ATP2C1	27032	broad.mit.edu	37	chr3	130686062	130686063	+	In_Frame_Ins	INS	-	-	AAA													gttcatggattctataacccINSagctgttagcagaattgttg							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr3:130686062_130686063insAAA	ENST00000510168.1	+	15	1746_1747	c.1196_1197insAAA	c.(1195-1200)ccagct>ccAAAagct	p.399_400PA>PKA	ATP2C1_ENST00000504381.1_In_Frame_Ins_p.344_345PA>PKA|ATP2C1_ENST00000428331.2_In_Frame_Ins_p.399_400PA>PKA|ATP2C1_ENST00000422190.2_In_Frame_Ins_p.399_400PA>PKA|ATP2C1_ENST00000393221.4_In_Frame_Ins_p.433_434PA>PKA|ATP2C1_ENST00000359644.3_In_Frame_Ins_p.399_400PA>PKA|ATP2C1_ENST00000533801.2_In_Frame_Ins_p.394_395PA>PKA|ATP2C1_ENST00000513801.1_In_Frame_Ins_p.383_384PA>PKA|ATP2C1_ENST00000508532.1_In_Frame_Ins_p.399_400PA>PKA|ATP2C1_ENST00000507488.2_In_Frame_Ins_p.383_384PA>PKA|ATP2C1_ENST00000328560.8_In_Frame_Ins_p.399_400PA>PKA|ATP2C1_ENST00000505330.1_In_Frame_Ins_p.383_384PA>PKA|ATP2C1_ENST00000504948.1_In_Frame_Ins_p.383_384PA>PKA			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	399					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTCTATAACCCAGCTGTTAGCA	0.342									Hailey-Hailey disease				False	1	True	3:130686062	0	AAA	130686063	-	AAA	130686062	7	5	10	1	0	1	1	0	0	0	0	0	1147	594	21	0	1250	0	ATP2C1	3	130686062	In_Frame_Ins	INS	-	TCGA-2J-AABK-01A-31D-A40W-08	331505	130686062	67336368	20	740											
CRMP1	1400	broad.mit.edu	37	chr4	5837708	5837708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgaccacgtcggcatcCgagcccacggcaatccgccc	10	18	0	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr4:5837708C>T	ENST00000324989.7	-	11	1645	c.1557G>A	c.(1555-1557)tcG>tcA	p.S519S	CRMP1_ENST00000397890.2_Silent_p.S405S|CRMP1_ENST00000512574.1_Silent_p.S403S|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	405					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	p.S519S(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CGTCGGCATCCGAGCCCACGG	0.522													False	0	False	4:5837708	0	T	5837708	C	T	5837708	2	4	10	1	0	0	0	0	0	0	0	1	3913	639	23	1		1	CRMP1	4	5837708	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08		5837708	185316568	21	741											
KIAA1211	57482	broad.mit.edu	37	chr4	57193838	57193838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgactcggctcccccagcGccgctggtaaaagaagtcac	10	16	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr4:57193838G>A	ENST00000504228.1	+	9	3675	c.3570G>A	c.(3568-3570)gcG>gcA	p.A1190A	KIAA1211_ENST00000264229.6_Silent_p.A1190A|KIAA1211_ENST00000541073.1_Silent_p.A1183A			Q6ZU35	K1211_HUMAN	KIAA1211	1190										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCCCCCAGCGCCGCTGGTAA	0.483													False	0	False	4:57193838	0	A	57193838	G	A	57193838	2	1	10	1	0	0	0	0	0	0	0	1	8265	1074	38	1		1	KIAA1211	4	57193838	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	51356130	57193838	133960438	22	742											
ANKRD34B	340120	broad.mit.edu	37	chr5	79854551	79854551	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaaagctcctgaacctcGcctttctaaaactgcatgat	8	11	1	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr5:79854551G>A	ENST00000338682.3	-	5	1960	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	430						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CCTGAACCTCGCCTTTCTAAA	0.468													False	0	False	5:79854551	0	A	79854551	G	A	79854551	4	1	10	1	0	0	0	0	0	1	0	0	663	1095	38	1	260	1	ANKRD34B	5	79854551	Nonsense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		79854551	101060709	23	743											
PCDHGA8	0	broad.mit.edu	37	chr5	140773115	140773115	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccggtttttcctcacccGatttaccgagtgaaagtcct	8	14	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr5:140773115G>A	ENST00000398604.2	+	1	735	c.735G>A	c.(733-735)ccG>ccA	p.P245P	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTCACCCGATTTACCGAG	0.567													False	0	True	5:140773115	0	A	140773115	G	A	140773115	2	1	10	1	0	0	0	0	0	0	0	1	11628	1045	37	1		1	PCDHGA8	5	140773115	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	60918564	140773115	40142145	24	744											
PROP1	5626	broad.mit.edu	37	chr5	177421284	177421284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctccttgcggggagaaCcttgatctcccccctcctgc	9	17	1	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr5:177421284C>A	ENST00000308304.2	-	2	473	c.165G>T	c.(163-165)agG>agT	p.R55S		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	55					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGGGAGAACCTTGATCTCC	0.662													False	0	False	5:177421284	0	A	177421284	C	A	177421284	3	1	10	1	0	0	0	0	1	0	0	0	12633	506	18	3	523	3	PROP1	5	177421284	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	36648169	177421284	3493976	25	745											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	10	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-2J-AABK-01A-31D-A40W-08		7393450	163721617	26	746											
FAM8A1	51439	broad.mit.edu	37	chr6	17608519	17608519	+	Silent	SNP	T	T	C													tttcagcataatcgaacagcTtatgacattgtagcaggaac							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:17608519T>C	ENST00000259963.3	+	5	1246	c.1191T>C	c.(1189-1191)gcT>gcC	p.A397A		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	397	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			ATCGAACAGCTTATGACATTG	0.383													False	0	False	6:17608519	0	C	17608519	T	C	17608519	2	2	10	1	0	0	0	0	0	0	0	1	5689	1596	56	4		4	FAM8A1	6	17608519	Silent	SNP	T	TCGA-2J-AABK-01A-31D-A40W-08	10215069	17608519	153506548	27	747	7	2									
FAM8A1	51439	broad.mit.edu	37	chr6	17608527	17608527	+	Missense_Mutation	SNP	T	T	C													taatcgaacagcttatgacaTtgtagcaggaaccattgtgg					rs141097358	by1000genomes	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:17608527T>C	ENST00000259963.3	+	5	1254	c.1199T>C	c.(1198-1200)aTt>aCt	p.I400T		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	400	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCTTATGACATTGTAGCAGGA	0.398													False	0	False	6:17608527	0	C	17608527	T	C	17608527	3	2	10	1	0	0	0	0	1	0	0	0	5689	1493	52	4	1217	4	FAM8A1	6	17608527	Missense_Mutation	SNP	T	TCGA-2J-AABK-01A-31D-A40W-08	8	17608527	153506540	28	748	7	2									
VARS	7407	broad.mit.edu	37	chr6	31752372	31752372	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggttggggggcgcacCtcaatgtcagagatggcgga	18	9	2	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:31752372C>T	ENST00000375663.3	-	11	1907	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	VARS_ENST00000444930.2_Splice_Site_p.E194E	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	489					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGGGGCGCACCTCAATGTCAG	0.582													False	0	False	6:31752372	0	T	31752372	C	T	31752372	5	4	10	1	0	0	0	0	0	0	1	0	17207	695	24	2	2407	2	VARS	6	31752372	Splice_Site	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	14143845	31752372	139362695	29	749											
PBX2	5089	broad.mit.edu	37	chr6	32157563	32157563	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccctcggcctcccgggaCccccccgctacccccaccgg	8	25	0	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:32157563C>A	ENST00000375050.4	-	1	400	c.130G>T	c.(130-132)Gtc>Ttc	p.V44F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	44							transcription factor binding	p.V44F(2)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CCTCCCGGGACCCCCCCGCTA	0.711													False	0	True	6:32157563	0	A	32157563	C	A	32157563	3	1	10	1	0	0	0	0	1	0	0	0	11561	507	18	3	1198	3	PBX2	6	32157563	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	405191	32157563	138957504	30	750											
DOPEY1	23033	broad.mit.edu	37	chr6	83847927	83847927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgctttctctgccatcaAagccatcttgaaaactaacc	5	12	3	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr6:83847927A>G	ENST00000349129.2	+	21	4426	c.4166A>G	c.(4165-4167)aAa>aGa	p.K1389R	DOPEY1_ENST00000369739.3_Missense_Mutation_p.K1380R|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.K1370R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1389					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTGCCATCAAAGCCATCTTG	0.373													False	0	True	6:83847927	0	G	83847927	A	G	83847927	3	3	10	1	0	0	0	0	1	0	0	0	4737	14	1	4	4240	4	DOPEY1	6	83847927	Missense_Mutation	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	51690364	83847927	87267140	31	751											
CCL26	10344	broad.mit.edu	37	chr7	75401253	75401253	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggtgaattcatagcttcGcacccaggtccagggaaggg	13	10	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr7:75401253G>A	ENST00000394905.2	-	3	399	c.142C>T	c.(142-144)Cga>Tga	p.R48*	CCL26_ENST00000005180.4_Nonsense_Mutation_p.R48*	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	48					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			lung(3)	3						TCATAGCTTCGCACCCAGGTC	0.527													False	0	False	7:75401253	0	A	75401253	G	A	75401253	4	1	10	1	0	0	0	0	0	1	0	0	2919	1095	38	1	150	1	CCL26	7	75401253	Nonsense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		75401253	83737410	32	752											
BRAF	673	broad.mit.edu	37	chr7	140481423	140481423	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caaatgatccagatccaattCtttgtcccactgtaatctgc	5	12	2	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr7:140481423C>G	ENST00000288602.6	-	11	1445	c.1385G>C	c.(1384-1386)aGa>aCa	p.R462T		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	462	Protein kinase.		R -> I (in colorectal cancer).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.R462I(2)|p.R462K(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AGATCCAATTCTTTGTCCCAC	0.393		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				False	0	True	7:140481423	0	G	140481423	C	G	140481423	3	3	10	1	0	0	0	0	1	0	0	0	1503	913	32	5	947	5	BRAF	7	140481423	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	65080170	140481423	18657240	33	753											
EPHA1	2041	broad.mit.edu	37	chr7	143092446	143092446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccagatgcagaatatgCgggtggctaaactggcccat	11	11	0	2	rs148018022		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr7:143092446C>T	ENST00000275815.3	-	12	2135	c.2049G>A	c.(2047-2049)ccG>ccA	p.P683P		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	683	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCAGAATATGCGGGTGGCTAA	0.542											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	7:143092446	0	T	143092446	C	T	143092446	2	4	10	1	0	0	0	0	0	0	0	1	5197	755	27	1		1	EPHA1	7	143092446	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	2611023	143092446	16046217	34	754											
CLU	1191	broad.mit.edu	37	chr8	27462692	27462692	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgggtgaagaacctgTcctggaagagctcgtctatg	13	11	1	3			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr8:27462692T>C	ENST00000316403.10	-	5	983	c.578A>G	c.(577-579)gAc>gGc	p.D193G	CLU_ENST00000546343.1_Missense_Mutation_p.D204G|CLU_ENST00000405140.3_Missense_Mutation_p.D193G|CLU_ENST00000523500.1_Missense_Mutation_p.D193G|CLU_ENST00000560366.1_Missense_Mutation_p.D245G			P10909	CLUS_HUMAN	clusterin	193					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GAAGAACCTGTCCTGGAAGAG	0.612													False	0	False	8:27462692	0	C	27462692	T	C	27462692	3	2	10	1	0	0	0	0	1	0	0	0	3591	1667	58	4	791	4	CLU	8	27462692	Missense_Mutation	SNP	T	TCGA-2J-AABK-01A-31D-A40W-08		27462692	118901330	35	755											
CPSF1	29894	broad.mit.edu	37	chr8	145620538	145620538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcgtgggatgcgggcacaCggcgtgttggtgctggtggc	20	8	0	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr8:145620538C>T	ENST00000349769.3	-	28	3223	c.3129G>A	c.(3127-3129)ccG>ccA	p.P1043P		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1043					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGCGGGCACACGGCGTGTTGG	0.632													False	0	False	8:145620538	0	T	145620538	C	T	145620538	2	4	10	1	0	0	0	0	0	0	0	1	3847	523	19	1		1	CPSF1	8	145620538	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	118157846	145620538	743484	36	756											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	23	8	0	1	rs121913388		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21971120	0	A	21971120	G	A	21971120	4	1	10	1	0	0	0	0	0	1	0	0	3184	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		21971120	119242311	37	757											
LINGO2	158038	broad.mit.edu	37	chr9	27949709	27949709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgagcacgcgtaggaagcGgagcccttggaaggagtgag	17	7	0	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr9:27949709G>A	ENST00000379992.2	-	6	1410	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	LINGO2_ENST00000308675.3_Missense_Mutation_p.R321C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	321						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGTAGGAAGCGGAGCCCTTGG	0.527													False	0	False	9:27949709	0	A	27949709	G	A	27949709	3	1	10	1	0	0	0	0	1	0	0	0	8868	1116	39	1	863	1	LINGO2	9	27949709	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	5978589	27949709	113263722	38	758											
DENND1A	57706	broad.mit.edu	37	chr9	126202749	126202749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcttctggggtgggggCgcagccattctcggcaatgt	15	11	3	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr9:126202749C>T	ENST00000373624.2	-	19	1579	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	DENND1A_ENST00000373618.1_Missense_Mutation_p.A428T|DENND1A_ENST00000394219.3_Missense_Mutation_p.A428T|DENND1A_ENST00000373620.3_Missense_Mutation_p.A460T|DENND1A_ENST00000542603.1_Missense_Mutation_p.A202T|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Missense_Mutation_p.A430T	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	460						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGGGTGGGGGCGCAGCCATTC	0.622													False	0	True	9:126202749	0	T	126202749	C	T	126202749	3	4	10	1	0	0	0	0	1	0	0	0	4456	768	27	1	1774	1	DENND1A	9	126202749	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	98253040	126202749	15010682	39	759											
CACNA1B	774	broad.mit.edu	37	chr9	141012490	141012490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggccacccctggagcGtggccactccacagagatcc	12	17	0	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr9:141012490G>A	ENST00000277549.5	+	43	6021	c.3452G>A	c.(3451-3453)cGt>cAt	p.R1151H	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1957H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1955H|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1957H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1956H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1958H			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1957					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCCTGGAGCGTGGCCACTCC	0.617													False	0	False	9:141012490	0	A	141012490	G	A	141012490	3	1	10	1	0	0	0	0	1	0	0	0	2559	1145	40	1	6036	1	CACNA1B	9	141012490	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	14809741	141012490	200941	40	760											
SORCS1	114815	broad.mit.edu	37	chr10	108434807	108434807	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatacttttcaacttacGtcatgatgagagtctcttct	5	10	5	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr10:108434807G>A	ENST00000263054.6	-	14	1947	c.1940C>T	c.(1939-1941)aCa>aTa	p.T647I	SORCS1_ENST00000369698.1_Splice_Site_p.T182I|SORCS1_ENST00000344440.6_Splice_Site_p.T647I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	647						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCAACTTACGTCATGATGAG	0.403													False	0	False	10:108434807	0	A	108434807	G	A	108434807	5	1	10	1	0	0	0	0	0	0	1	0	15010	1159	40	1	1852	1	SORCS1	10	108434807	Splice_Site	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		108434807	27099940	41	761											
KNDC1	85442	broad.mit.edu	37	chr10	135020488	135020488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggccccgctctgccccGtgaggcagtagcttcagacg	13	16	2	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr10:135020488G>A	ENST00000368571.2	+	18	3705	c.3415G>A	c.(3415-3417)Gtg>Atg	p.V1139M	KNDC1_ENST00000304613.3_Intron|KNDC1_ENST00000368572.2_Intron			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	0					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCTCTGCCCCGTGAGGCAGTA	0.547													False	0	True	10:135020488	0	A	135020488	G	A	135020488	3	1	10	1	0	0	0	0	1	0	0	0	8476	1160	40	1		1	KNDC1	10	135020488	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	26585681	135020488	514259	42	762											
DCHS1	8642	broad.mit.edu	37	chr11	6653418	6653418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccacagccaggaaggtggGatcctcagacaagcggggac	15	11	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:6653418G>A	ENST00000299441.3	-	6	3736	c.3325C>T	c.(3325-3327)Ccc>Tcc	p.P1109S	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1109	Cadherin 10.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAAGGTGGGATCCTCAGAC	0.607													False	0	True	11:6653418	0	A	6653418	G	A	6653418	3	1	10	1	0	0	0	0	1	0	0	0	4312	1174	41	2	6635	2	DCHS1	11	6653418	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		6653418	128353098	43	763											
CTNND1	1500	broad.mit.edu	37	chr11	57582920	57582920	+	Frame_Shift_Del	DEL	G	G	-													ccacaatagaacactggatcGatcgggggatctaggcgaca							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:57582920delG	ENST00000524630.1	+	18	3251	c.2738delG	c.(2737-2739)cgafs	p.R913fs	CTNND1_ENST00000532787.1_Frame_Shift_Del_p.R791fs|CTNND1_ENST00000534579.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000360682.6_Frame_Shift_Del_p.R898fs|CTNND1_ENST00000399050.4_Frame_Shift_Del_p.R919fs|CTNND1_ENST00000428599.2_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000358694.6_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000531014.1_Frame_Shift_Del_p.R590fs|CTNND1_ENST00000527467.1_Frame_Shift_Del_p.R596fs|CTNND1_ENST00000528621.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000533667.1_Frame_Shift_Del_p.R569fs|CTNND1_ENST00000530748.1_Frame_Shift_Del_p.R865fs|CTNND1_ENST00000532245.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000526357.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000530094.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000529526.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000361796.4_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000526938.1_Frame_Shift_Del_p.R898fs|CTNND1_ENST00000532844.1_Frame_Shift_Del_p.R865fs|CTNND1_ENST00000399039.4_Frame_Shift_Del_p.R919fs|CTNND1_ENST00000526772.1_Frame_Shift_Del_p.R590fs|CTNND1_ENST00000529919.1_Frame_Shift_Del_p.R919fs|CTNND1_ENST00000361332.4_Frame_Shift_Del_p.R913fs|CTNND1_ENST00000529986.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000532649.1_Frame_Shift_Del_p.R859fs|CTNND1_ENST00000532463.1_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000529873.1_Frame_Shift_Del_p.R838fs|CTNND1_ENST00000361391.6_Frame_Shift_Del_p.R892fs|CTNND1_ENST00000525902.1_Frame_Shift_Del_p.R596fs|CTNND1_ENST00000426142.2_Frame_Shift_Del_p.R812fs|CTNND1_ENST00000528232.1_Frame_Shift_Del_p.R818fs|CTNND1_ENST00000415361.2_Frame_Shift_Del_p.R818fs			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	919					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ACACTGGATCGATCGGGGGAT	0.393													False	1	True	11:57582920	0	-	57582920	G	-	57582920	7	5	10	1	0	1	0	1	0	0	0	0	4044	1058	37	0	2822	0	CTNND1	11	57582920	Frame_Shift_Del	DEL	G	TCGA-2J-AABK-01A-31D-A40W-08	50929502	57582920	77423596	44	764											
AHNAK	79026	broad.mit.edu	37	chr11	62293318	62293318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatctccctctaccttaggGcctgtaacatccacatctcc	5	16	3	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:62293318G>A	ENST00000378024.4	-	5	8845	c.8571C>T	c.(8569-8571)ggC>ggT	p.G2857G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2857					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTACCTTAGGGCCTGTAACAT	0.453													False	0	True	11:62293318	0	A	62293318	G	A	62293318	2	1	10	1	0	0	0	0	0	0	0	1	414	1190	42	2		2	AHNAK	11	62293318	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	4710398	62293318	72713198	45	765											
AHNAK	79026	broad.mit.edu	37	chr11	62296207	62296207	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggacactccagctcaacatcAggcacctccacacccacact	5	19	2	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr11:62296207A>T	ENST00000378024.4	-	5	5956	c.5682T>A	c.(5680-5682)ccT>ccA	p.P1894P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1894					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTCAACATCAGGCACCTCCA	0.517													False	0	False	11:62296207	0	T	62296207	A	T	62296207	2	4	10	1	0	0	0	0	0	0	0	1	414	175	7	5		5	AHNAK	11	62296207	Silent	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	2889	62296207	72710309	46	766											
KDM5A	5927	broad.mit.edu	37	chr12	498206	498206	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cggctcaaagacggggcactCtggcggtggcacgaactccg	15	13	2	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:498206C>G	ENST00000399788.2	-	1	414	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	KDM5A_ENST00000382815.4_Missense_Mutation_p.E18Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	18					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ACGGGGCACTCTGGCGGTGGC	0.677			T	NUP98	AML								False	0	False	12:498206	0	G	498206	C	G	498206	3	3	10	1	0	0	0	0	1	0	0	0	8183	922	32	5	5132	5	KDM5A	12	498206	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08		498206	133353689	47	767											
CD163L1	283316	broad.mit.edu	37	chr12	7548911	7548911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctttactgttccagccGtcatcacacactgtgcccca	7	16	2	0	rs140225151	byFrequency	TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:7548911G>A	ENST00000313599.3	-	8	1887	c.1830C>T	c.(1828-1830)gaC>gaT	p.D610D	CD163L1_ENST00000416109.2_Silent_p.D620D|CD163L1_ENST00000396630.1_Silent_p.D610D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	610	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTTCCAGCCGTCATCACACA	0.567													False	0	False	12:7548911	0	A	7548911	G	A	7548911	2	1	10	1	0	0	0	0	0	0	0	1	2991	1136	40	1		1	CD163L1	12	7548911	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	7050705	7548911	126302984	48	768											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	10	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	17849373	25398284	108453611	49	769											
KIF21A	55605	broad.mit.edu	37	chr12	39752115	39752115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgattggcgtatttcagggtGtttaacgtttccataaagtc	10	7	1	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:39752115G>A	ENST00000395670.3	-	8	1499	c.1080C>T	c.(1078-1080)aaC>aaT	p.N360N	KIF21A_ENST00000544797.2_Silent_p.N360N|KIF21A_ENST00000541463.2_Silent_p.N360N|KIF21A_ENST00000361418.5_Silent_p.N360N|KIF21A_ENST00000361961.3_Silent_p.N360N			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	360					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATTTCAGGGTGTTTAACGTTT	0.388													False	0	True	12:39752115	0	A	39752115	G	A	39752115	2	1	10	1	0	0	0	0	0	0	0	1	8338	1368	48	2		2	KIF21A	12	39752115	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	14353831	39752115	94099780	50	770											
TUBA1C	84790	broad.mit.edu	37	chr12	49666572	49666572	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagccaaccagatggtgaaAtgtgaccctcgccatggtaa	10	12	0	3			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:49666572A>G	ENST00000301072.6	+	4	1187	c.912A>G	c.(910-912)aaA>aaG	p.K304K	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Silent_p.K374K	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	304					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						AGATGGTGAAATGTGACCCTC	0.498													False	0	True	12:49666572	0	G	49666572	A	G	49666572	2	3	10	1	0	0	0	0	0	0	0	1	16829	98	4	4		4	TUBA1C	12	49666572	Silent	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	9914457	49666572	84185323	51	771											
SDR9C7	121214	broad.mit.edu	37	chr12	57323240	57323240	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctctcccaaagctttcGcatgcgtgactccaggttct	8	15	2	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:57323240G>A	ENST00000293502.1	-	3	801	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	220						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CAAAGCTTTCGCATGCGTGAC	0.562													False	0	False	12:57323240	0	A	57323240	G	A	57323240	4	1	10	1	0	0	0	0	0	1	0	0	14055	1095	38	1	291	1	SDR9C7	12	57323240	Nonsense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	7656668	57323240	76528655	52	772											
C12orf66	144577	broad.mit.edu	37	chr12	64588215	64588215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaggtgtggaggctgcaCggccttctgagactgccctc	14	11	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:64588215C>T	ENST00000311915.8	-	3	772	c.745G>A	c.(745-747)Gtg>Atg	p.V249M	C12orf66_ENST00000544871.1_Missense_Mutation_p.V196M|C12orf66_ENST00000398055.3_Missense_Mutation_p.V249M			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	249										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GGAGGCTGCACGGCCTTCTGA	0.493													False	0	False	12:64588215	0	T	64588215	C	T	64588215	3	4	10	1	0	0	0	0	1	0	0	0	1718	536	19	1	596	1	C12orf66	12	64588215	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	7264975	64588215	69263680	53	773											
WSCD2	9671	broad.mit.edu	37	chr12	108604027	108604027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggcagcgtgtgcggcggCgccaaccgcctctctgtcta	14	15	2	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr12:108604027C>T	ENST00000332082.4	+	5	1445	c.627C>T	c.(625-627)ggC>ggT	p.G209G	WSCD2_ENST00000549903.1_Silent_p.G209G|WSCD2_ENST00000261400.3_Silent_p.G209G|WSCD2_ENST00000547525.1_Silent_p.G209G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	209	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGTGCGGCGGCGCCAACCGCC	0.682													False	0	True	12:108604027	0	T	108604027	C	T	108604027	2	4	10	1	0	0	0	0	0	0	0	1	17491	755	27	1		1	WSCD2	12	108604027	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	44015812	108604027	25247868	54	774											
SPATA13	221178	broad.mit.edu	37	chr13	24868942	24868942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgtctgatcaacgagcGcaagcgcaagctggagagca	14	11	2	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr13:24868942G>A	ENST00000424834.2	+	12	3619	c.3146G>A	c.(3145-3147)cGc>cAc	p.R1049H	SPATA13_ENST00000382095.4_Missense_Mutation_p.R424H|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.R927H|SPATA13_ENST00000343003.6_Missense_Mutation_p.R368H|SPATA13_ENST00000409126.1_Missense_Mutation_p.R284H|SPATA13_ENST00000382108.3_Missense_Mutation_p.R1049H|SPATA13_ENST00000399949.2_Missense_Mutation_p.R346H			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	424					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	p.R424H(1)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		ATCAACGAGCGCAAGCGCAAG	0.498													False	0	True	13:24868942	0	A	24868942	G	A	24868942	3	1	10	1	0	0	0	0	1	0	0	0	15082	1087	38	1	3180	1	SPATA13	13	24868942	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		24868942	90300936	55	775											
SOHLH2	54937	broad.mit.edu	37	chr13	36767849	36767849	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaatatccattccatgCcctgaaatacaacctaagaa	4	11	0	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr13:36767849C>T	ENST00000379881.3	-	4	427	c.339G>A	c.(337-339)ggG>ggA	p.G113G	SOHLH2_ENST00000317764.6_Silent_p.G113G|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.G190G|SOHLH2_ENST00000554962.1_Silent_p.G190G	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CCATTCCATGCCCTGAAATAC	0.308													False	0	True	13:36767849	0	T	36767849	C	T	36767849	2	4	10	1	0	0	0	0	0	0	0	1	15004	726	26	2		2	SOHLH2	13	36767849	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	11898907	36767849	78402029	56	776											
EIF2B2	8892	broad.mit.edu	37	chr14	75469848	75469848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcacggaccaccgctggaGcaacgcgggtgaggccggcc	15	15	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr14:75469848G>A	ENST00000266126.5	+	1	235	c.155G>A	c.(154-156)aGc>aAc	p.S52N		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	52				S -> R (in Ref. 2; AAC42002).	cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CACCGCTGGAGCAACGCGGGT	0.672													False	0	False	14:75469848	0	A	75469848	G	A	75469848	3	1	10	1	0	0	0	0	1	0	0	0	5031	971	34	2	157	2	EIF2B2	14	75469848	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		75469848	31879692	57	777											
VPS13C	54832	broad.mit.edu	37	chr15	62172889	62172889	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctccattaattctgcattTagagcatcaatatcttgttg	6	8	4	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr15:62172889T>A	ENST00000261517.5	-	73	9994	c.9921A>T	c.(9919-9921)ctA>ctT	p.L3307L	VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395896.4_Silent_p.L3307L|VPS13C_ENST00000395898.3_Silent_p.L3264L|VPS13C_ENST00000249837.3_Silent_p.L3264L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3307					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTCTGCATTTAGAGCATCAA	0.269													False	0	True	15:62172889	0	A	62172889	T	A	62172889	2	1	10	1	0	0	0	0	0	0	0	1	17275	1741	61	5		5	VPS13C	15	62172889	Silent	SNP	T	TCGA-2J-AABK-01A-31D-A40W-08		62172889	40358503	58	778											
CSPG4	1464	broad.mit.edu	37	chr15	75974724	75974724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggccccgcaccacacgGtagagcaggagctgggggtc	18	12	0	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr15:75974724G>A	ENST00000308508.5	-	8	4952	c.4860C>T	c.(4858-4860)taC>taT	p.Y1620Y		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1620	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCACCACACGGTAGAGCAGGA	0.667													False	0	False	15:75974724	0	A	75974724	G	A	75974724	2	1	10	1	0	0	0	0	0	0	0	1	3985	1256	44	2		2	CSPG4	15	75974724	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	13801835	75974724	26556668	59	779											
IQGAP1	8826	broad.mit.edu	37	chr15	91017344	91017344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttattcgggcaaacaaagctCgggatgactacaagactctc	9	10	1	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr15:91017344C>T	ENST00000268182.5	+	22	2678	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R280W	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	852	IQ 4.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAACAAAGCTCGGGATGACTA	0.423													False	0	True	15:91017344	0	T	91017344	C	T	91017344	3	4	10	1	0	0	0	0	1	0	0	0	7864	875	31	1	2640	1	IQGAP1	15	91017344	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	15042620	91017344	11514048	60	780											
TPSD1	23430	broad.mit.edu	37	chr16	1306801	1306801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcctccgctgcccagggaCatcaaggatctggccgccct	11	16	2	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr16:1306801C>T	ENST00000211076.3	+	3	406	c.258C>T	c.(256-258)gaC>gaT	p.D86D	TPSD1_ENST00000397534.2_Silent_p.D79D	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	86	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGCCCAGGGACATCAAGGATC	0.682													False	0	False	16:1306801	0	T	1306801	C	T	1306801	2	4	10	1	0	0	0	0	0	0	0	1	16508	477	17	2		2	TPSD1	16	1306801	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08		1306801	89047952	61	781											
PRSS36	146547	broad.mit.edu	37	chr16	31161352	31161352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggaggagcaggtgccggGccatggcgctagagtcagcg	21	9	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr16:31161352G>A	ENST00000268281.4	-	1	63	c.5C>T	c.(4-6)gCc>gTc	p.A2V	PRSS36_ENST00000418068.2_Missense_Mutation_p.A2V|PRSS36_ENST00000569305.1_Missense_Mutation_p.A2V	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	2					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CAGGTGCCGGGCCATGGCGCT	0.652													False	0	True	16:31161352	0	A	31161352	G	A	31161352	3	1	10	1	0	0	0	0	1	0	0	0	12701	1203	42	2	2622	2	PRSS36	16	31161352	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	29854551	31161352	59193401	62	782											
CDH13	1012	broad.mit.edu	37	chr16	83704515	83704515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcatcaacggaaaccccGggcagagctttgaaatccac	8	14	2	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr16:83704515G>A	ENST00000566620.1	+	9	1512	c.1222G>A	c.(1222-1224)Ggg>Agg	p.G408R	CDH13_ENST00000428848.3_Missense_Mutation_p.G369R|CDH13_ENST00000268613.10_Missense_Mutation_p.G455R	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	408	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGGAAACCCCGGGCAGAGCTT	0.498													False	0	True	16:83704515	0	A	83704515	G	A	83704515	3	1	10	1	0	0	0	0	1	0	0	0	3122	1116	39	1	1256	1	CDH13	16	83704515	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	52543163	83704515	6650238	63	783											
TP53	7157	broad.mit.edu	37	chr17	7577123	7577123	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggacaggcacaaacacgcAcctcaaagctgttccgtccc	8	16	1	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr17:7577123A>G	ENST00000420246.2	-	8	947	c.815T>C	c.(814-816)gTg>gCg	p.V272A	TP53_ENST00000269305.4_Missense_Mutation_p.V272A|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V272A|TP53_ENST00000359597.4_Missense_Mutation_p.V272A|TP53_ENST00000455263.2_Missense_Mutation_p.V272A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.V272E(8)|p.V272A(7)|p.V272G(6)|p.?(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271fs*73(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACAAACACGCACCTCAAAGCT	0.532		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)			False	0	False	17:7577123	0	G	7577123	A	G	7577123	3	3	10	1	0	0	0	0	1	0	0	0	16464	159	6	4	471	4	TP53	17	7577123	Missense_Mutation	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08		7577123	73618087	64	784											
MYH4	4622	broad.mit.edu	37	chr17	10366281	10366281	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggttggtggtgatcagaagCatttctgaacacatggaaaa	13	5	2	3			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr17:10366281C>A	ENST00000255381.2	-	11	1019	c.909G>T	c.(907-909)atG>atT	p.M303I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	303	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGATCAGAAGCATTTCTGAAC	0.433													False	0	False	17:10366281	0	A	10366281	C	A	10366281	3	1	10	1	0	0	0	0	1	0	0	0	10104	710	25	3	5030	3	MYH4	17	10366281	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	2789158	10366281	70828929	65	785											
RNF213	57674	broad.mit.edu	37	chr17	78337556	78337556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcacatgcaaggcagcGggagcctggcccaggctgtc	15	12	0	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr17:78337556G>A	ENST00000582970.1	+	41	11859	c.11716G>A	c.(11716-11718)Ggg>Agg	p.G3906R	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.G1979R|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G3955R	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAAGGCAGCGGGAGCCTGGC	0.617													False	0	True	17:78337556	0	A	78337556	G	A	78337556	3	1	10	1	0	0	0	0	1	0	0	0	13556	1116	39	1	12193	1	RNF213	17	78337556	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	67971275	78337556	2857654	66	786											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	10	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-2J-AABK-01A-31D-A40W-08		14083667	45045316	67	787											
FAM129C	199786	broad.mit.edu	37	chr19	17653012	17653012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctaccgtgaggccgagcGgagccgggggcgcttggggc	20	11	0	1	rs149574830		TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:17653012G>A	ENST00000335393.4	+	11	1469	c.1331G>A	c.(1330-1332)cGg>cAg	p.R444Q	FAM129C_ENST00000601861.1_Missense_Mutation_p.R413Q|FAM129C_ENST00000599164.1_Missense_Mutation_p.R413Q|FAM129C_ENST00000449408.2_Missense_Mutation_p.R170Q|FAM129C_ENST00000332386.5_Missense_Mutation_p.R444Q|FAM129C_ENST00000599124.1_Missense_Mutation_p.R413Q|FAM129C_ENST00000352727.3_Missense_Mutation_p.R444Q|FAM129C_ENST00000600871.1_Missense_Mutation_p.R390Q|FAM129C_ENST00000300971.2_Missense_Mutation_p.R444Q|FAM129C_ENST00000595684.1_Missense_Mutation_p.R444Q	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	444										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GAGGCCGAGCGGAGCCGGGGG	0.607													False	0	False	19:17653012	0	A	17653012	G	A	17653012	3	1	10	1	0	0	0	0	1	0	0	0	5474	1116	39	1	1373	1	FAM129C	19	17653012	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	3569345	17653012	41475971	68	788											
PNMAL2	57469	broad.mit.edu	37	chr19	46998384	46998384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcggcctgcgtgggcccGtcatccagcagcaggcgtct	14	16	2	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:46998384G>A	ENST00000599531.1	-	1	1371	c.339C>T	c.(337-339)gaC>gaT	p.D113D	PNMAL2_ENST00000377655.2_Silent_p.D113D|AC011484.1_ENST00000377652.3_Silent_p.P165P|PNMAL2_ENST00000594749.1_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	113										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCGTGGGCCCGTCATCCAGCA	0.692													False	0	True	19:46998384	0	A	46998384	G	A	46998384	2	1	10	1	0	0	0	0	0	0	0	1	12227	1136	40	1		1	PNMAL2	19	46998384	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	29345372	46998384	12130599	69	789											
CCDC114	93233	broad.mit.edu	37	chr19	48800579	48800579	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caaaagtgacgtggccaagaGagccacggtctctgctagtc	12	11	1	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:48800579G>A	ENST00000315396.7	-	14	2349	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	556										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTGGCCAAGAGAGCCACGGTC	0.642													False	0	True	19:48800579	0	A	48800579	G	A	48800579	3	1	10	1	0	0	0	0	1	0	0	0	2771	942	33	2	349	2	CCDC114	19	48800579	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	1802195	48800579	10328404	70	790											
NLRP13	126204	broad.mit.edu	37	chr19	56424320	56424320	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcaaaatcgggccaaTccaaagaaatcaattcagca	8	10	3	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:56424320T>A	ENST00000588751.1	-	5	887	c.863A>T	c.(862-864)gAt>gTt	p.D288V	NLRP13_ENST00000342929.3_Missense_Mutation_p.D288V			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	288	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCGGGCCAATCCAAAGAAAT	0.393													False	0	False	19:56424320	0	A	56424320	T	A	56424320	3	1	10	1	0	0	0	0	1	0	0	0	10543	1435	50	5	2294	5	NLRP13	19	56424320	Missense_Mutation	SNP	T	TCGA-2J-AABK-01A-31D-A40W-08	7623741	56424320	2704663	71	791											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56702324	56702324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttgggtcacctgttacGtcaatactcttgtgtagcag	11	8	3	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr19:56702324G>A	ENST00000586855.2	-	4	934	c.621C>T	c.(619-621)gaC>gaT	p.D207D	ZSCAN5B_ENST00000358992.3_Silent_p.D207D			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	207					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACCTGTTACGTCAATACTCT	0.507													False	0	False	19:56702324	0	A	56702324	G	A	56702324	2	1	10	1	0	0	0	0	0	0	0	1	18321	1136	40	1		1	ZSCAN5B	19	56702324	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	278004	56702324	2426659	72	792											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-													atgcagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55													False	1	True	20:46279833	0	-	46279834	GC	-	46279833	7	5	10	1	0	1	0	1	0	0	0	0	10298	962	34	0	3859	0	NCOA3	20	46279833	Frame_Shift_Del	DEL	GC	TCGA-2J-AABK-01A-31D-A40W-08		46279833	16745687	73	793											
TIAM1	7074	broad.mit.edu	37	chr21	32499427	32499427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggcctcccttcagactcGgattttacatggacaatttc	7	13	1	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr21:32499427G>A	ENST00000286827.3	-	27	4560	c.4089C>T	c.(4087-4089)tcC>tcT	p.S1363S	TIAM1_ENST00000541036.1_Silent_p.S1303S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1363	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTCAGACTCGGATTTTACAT	0.453													False	0	False	21:32499427	0	A	32499427	G	A	32499427	2	1	10	1	0	0	0	0	0	0	0	1	15972	1103	39	1		1	TIAM1	21	32499427	Silent	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		32499427	15630468	74	794											
DSCR4	10281	broad.mit.edu	37	chr21	39493319	39493319	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggggtaaatatccggggttCatcatctctcgtcaagatga	11	8	4	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr21:39493319C>T	ENST00000328264.3	-	1	135	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	DSCR4_ENST00000398948.1_Missense_Mutation_p.E11K	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	11										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						atccggggttcatcatctctc	0.498													False	0	False	21:39493319	0	T	39493319	C	T	39493319	3	4	10	1	0	0	0	0	1	0	0	0	4802	835	29	2	337	2	DSCR4	21	39493319	Missense_Mutation	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	6993892	39493319	8636576	75	795											
TRAPPC10	7109	broad.mit.edu	37	chr21	45502791	45502791	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agataaccatgtacagccagAtgcctgtgcctgttcacgtg	10	11	1	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr21:45502791A>G	ENST00000291574.4	+	14	2021	c.1846A>G	c.(1846-1848)Atg>Gtg	p.M616V		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	616					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTACAGCCAGATGCCTGTGCC	0.517													False	0	False	21:45502791	0	G	45502791	A	G	45502791	3	3	10	1	0	0	0	0	1	0	0	0	16540	333	12	4	1900	4	TRAPPC10	21	45502791	Missense_Mutation	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08	6009472	45502791	2627104	76	796											
COL18A1	80781	broad.mit.edu	37	chr21	46902721	46902721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtacagggtgaagcaggcGccccaggacataaggtacaa	13	11	0	1			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr21:46902721G>A	ENST00000359759.4	+	14	2953	c.2932G>A	c.(2932-2934)Gcc>Acc	p.A978T	COL18A1_ENST00000400337.2_Missense_Mutation_p.A563T|COL18A1_ENST00000355480.5_Missense_Mutation_p.A743T			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	978	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGAAGCAGGCGCCCCAGGACA	0.592													False	0	True	21:46902721	0	A	46902721	G	A	46902721	3	1	10	1	0	0	0	0	1	0	0	0	3698	1087	38	1	3100	1	COL18A1	21	46902721	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08	1399930	46902721	1227174	77	797											
PICK1	9463	broad.mit.edu	37	chr22	38470363	38470363	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccggcaactatgagtaccGcctgatcctgcgctgccgcc	10	17	0	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chr22:38470363G>C	ENST00000404072.3	+	12	1231	c.884G>C	c.(883-885)cGc>cCc	p.R295P	PICK1_ENST00000356976.3_Missense_Mutation_p.R295P	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	295	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TATGAGTACCGCCTGATCCTG	0.682											OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	22:38470363	0	C	38470363	G	C	38470363	3	2	10	1	0	0	0	0	1	0	0	0	11950	1087	38	5	926	5	PICK1	22	38470363	Missense_Mutation	SNP	G	TCGA-2J-AABK-01A-31D-A40W-08		38470363	12834203	78	798											
GPR112	139378	broad.mit.edu	37	chrX	135426583	135426583	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atatgacaattcaagaaaaaAgtacaactgtttcacaacag	5	7	2	2			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chrX:135426583A>T	ENST00000394143.1	+	6	1009	c.718A>T	c.(718-720)Agt>Tgt	p.S240C	GPR112_ENST00000287534.4_Missense_Mutation_p.S177C|GPR112_ENST00000394141.1_Missense_Mutation_p.S35C|GPR112_ENST00000412101.1_Missense_Mutation_p.S35C|GPR112_ENST00000370652.1_Missense_Mutation_p.S240C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	240					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAAGAAAAAAGTACAACTGT	0.333													False	0	True	X:135426583	0	T	135426583	A	T	135426583	3	4	10	1	0	0	0	0	1	0	0	0	6675	72	3	5	728	5	GPR112	23	135426583	Missense_Mutation	SNP	A	TCGA-2J-AABK-01A-31D-A40W-08		135426583	19843977	79	799											
ABCD1	215	broad.mit.edu	37	chrX	153006119	153006119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctactcggagcaggacCtggaagccatcctggacgtc	14	12	0	0			TCGA-2J-AABK-01A-31D-A40W-08	TCGA-2J-AABK-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	10fe2e36-6d45-4c97-b4b4-468985c589cd	e8152b10-7ebb-4153-9837-dcc6185632c2	g.chrX:153006119C>T	ENST00000218104.3	+	7	2125	c.1726C>T	c.(1726-1728)Ctg>Ttg	p.L576L	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	576	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCAGGACCTGGAAGCCAT	0.637													False	0	False	X:153006119	0	T	153006119	C	T	153006119	2	4	10	1	0	0	0	0	0	0	0	1	60	680	24	2		2	ABCD1	23	153006119	Silent	SNP	C	TCGA-2J-AABK-01A-31D-A40W-08	17579536	153006119	2264441	80	800											
PUSL1	126789	broad.mit.edu	37	chr1	1244928	1244928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggccactggctgtcacCggcgtgatgagctgccggtg	16	13	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:1244928C>T	ENST00000379031.5	+	4	495	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	PUSL1_ENST00000470520.1_3'UTR	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	140					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGCTGTCACCGGCGTGATGA	0.687													False	0	False	1:1244928	0	T	1244928	C	T	1244928	3	4	11	1	0	0	0	0	1	0	0	0	12914	643	23	1	432	1	PUSL1	1	1244928	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08		1244928	248005693	1	801											
ZFYVE9	9372	broad.mit.edu	37	chr1	52747411	52747411	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagatagtcattcttctacAgtgtttaccggatgaaaagt	9	6	3	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:52747411A>C	ENST00000287727.3	+	10	3120	c.2948A>C	c.(2947-2949)cAg>cCg	p.Q983P	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.Q983P|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.Q924P			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	983					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATTCTTCTACAGTGTTTACCG	0.418													False	0	False	1:52747411	0	C	52747411	A	C	52747411	3	2	11	1	0	0	0	0	1	0	0	0	17754	188	7	4	2989	4	ZFYVE9	1	52747411	Missense_Mutation	SNP	A	TCGA-2J-AABO-01A-21D-A40W-08	51502483	52747411	196503210	2	802											
S1PR1	1901	broad.mit.edu	37	chr1	101705312	101705312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggcgctgctcaagaccGtaattatcgtcctgagcgtc	11	13	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:101705312G>A	ENST00000305352.6	+	2	1147	c.772G>A	c.(772-774)Gta>Ata	p.V258I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	258					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTCAAGACCGTAATTATCGT	0.587													False	0	False	1:101705312	0	A	101705312	G	A	101705312	3	1	11	1	0	0	0	0	1	0	0	0	13872	1145	40	1	774	1	S1PR1	1	101705312	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	48957901	101705312	147545309	3	803											
KCND3	3752	broad.mit.edu	37	chr1	112525004	112525004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtagaaggccagctcgtcGtcgtaggcagagatgcactc	13	12	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:112525004G>A	ENST00000369697.1	-	1	414	c.345C>T	c.(343-345)gaC>gaT	p.D115D	KCND3_ENST00000302127.4_Silent_p.D115D|KCND3_ENST00000315987.2_Silent_p.D115D			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	115						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CCAGCTCGTCGTCGTAGGCAG	0.627													False	0	True	1:112525004	0	A	112525004	G	A	112525004	2	1	11	1	0	0	0	0	0	0	0	1	8070	1136	40	1		1	KCND3	1	112525004	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	10819692	112525004	136725617	4	804											
TRIM33	51592	broad.mit.edu	37	chr1	114968220	114968220	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgttgcatgtgctggaGtcgaagctgtgctaagttaa	13	5	0	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:114968220G>T	ENST00000358465.2	-	9	1629	c.1546C>A	c.(1546-1548)Ctc>Atc	p.L516I	TRIM33_ENST00000450349.2_Missense_Mutation_p.L124I|TRIM33_ENST00000369543.2_Missense_Mutation_p.L516I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	516					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTGCTGGAGTCGAAGCTGT	0.458			T	RET	papillary thyroid								False	0	False	1:114968220	0	T	114968220	G	T	114968220	3	4	11	1	0	0	0	0	1	0	0	0	16590	1029	36	3	1885	3	TRIM33	1	114968220	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	2443216	114968220	134282401	5	805											
SYCP1	6847	broad.mit.edu	37	chr1	115417138	115417138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacaatagatgaatatgaaCgggaagaaaccaggcaagtt	10	5	0	4			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:115417138C>T	ENST00000369522.3	+	9	850	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	SYCP1_ENST00000369518.1_Missense_Mutation_p.R204W	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	204					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.R204W(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAATATGAACGGGAAGAAAC	0.264													False	0	True	1:115417138	0	T	115417138	C	T	115417138	3	4	11	1	0	0	0	0	1	0	0	0	15513	527	19	1	640	1	SYCP1	1	115417138	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	448918	115417138	133833483	6	806											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	11	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-2J-AABO-01A-21D-A40W-08	37254377	152671515	96579106	7	807											
SMCP	4184	broad.mit.edu	37	chr1	152857174	152857174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtctgagcccaactcaccGcaaactcaggacaagggctg	11	13	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:152857174G>A	ENST00000368765.3	+	2	426	c.276G>A	c.(274-276)ccG>ccA	p.P92P		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	92					penetration of zona pellucida|sperm motility	mitochondrial membrane		p.P92P(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAACTCACCGCAAACTCAGG	0.537													False	0	False	1:152857174	0	A	152857174	G	A	152857174	2	1	11	1	0	0	0	0	0	0	0	1	14869	1074	38	1		1	SMCP	1	152857174	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	185659	152857174	96393447	8	808											
OR6K6	128371	broad.mit.edu	37	chr1	158725536	158725536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgttatccttgctcccTttttcaaccccatcatctat	2	14	3	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:158725536T>C	ENST00000368144.2	+	1	1027	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTTGCTCCCTTTTTCAACCC	0.438													False	0	True	1:158725536	0	C	158725536	T	C	158725536	3	2	11	1	0	0	0	0	1	0	0	0	11272	1609	56	4	933	4	OR6K6	1	158725536	Missense_Mutation	SNP	T	TCGA-2J-AABO-01A-21D-A40W-08	5868362	158725536	90525085	9	809											
FCGR2B	2213	broad.mit.edu	37	chr1	161643018	161643018	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaccatcactgtccaAggtatgcggagtctgccaag	11	12	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:161643018A>G	ENST00000367962.4	+	4	772	c.645A>G	c.(643-645)caA>caG	p.Q215Q	FCGR2B_ENST00000428605.2_Splice_Site_p.Q215Q|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Splice_Site_p.Q208Q|FCGR2B_ENST00000236937.9_Splice_Site_p.Q215Q|FCGR2B_ENST00000358671.5_Splice_Site_p.Q215Q|FCGR2B_ENST00000367960.5_Splice_Site_p.Q208Q|FCGR2B_ENST00000403078.3_Splice_Site_p.Q215Q			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	215					immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCACTGTCCAAGGTATGCGGA	0.542			T	?	ALL								False	0	False	1:161643018	0	G	161643018	A	G	161643018	5	3	11	1	0	0	0	0	0	0	1	0	5822	86	3	4	659	4	FCGR2B	1	161643018	Splice_Site	SNP	A	TCGA-2J-AABO-01A-21D-A40W-08	2917482	161643018	87607603	10	810											
ZNF496	84838	broad.mit.edu	37	chr1	247464376	247464376	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcggacacacgtaggacttCttggaggtctgcacctcgcc	11	13	2	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr1:247464376C>A	ENST00000294753.4	-	9	1673	c.1209G>T	c.(1207-1209)aaG>aaT	p.K403N	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.K439N	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	403					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGTAGGACTTCTTGGAGGTCT	0.642													False	0	False	1:247464376	0	A	247464376	C	A	247464376	3	1	11	1	0	0	0	0	1	0	0	0	18028	912	32	3	558	3	ZNF496	1	247464376	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	85821358	247464376	1786245	11	811											
GPR113	165082	broad.mit.edu	37	chr2	26534165	26534165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaccatgttgagcagggCggcgtggcggaaataggaga	17	7	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:26534165C>T	ENST00000333478.6	-	8	2416	c.1834G>A	c.(1834-1836)Gcc>Acc	p.A612T	GPR113_ENST00000421160.2_Missense_Mutation_p.A742T|GPR113_ENST00000311519.1_Missense_Mutation_p.A811T|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.A414T	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	811					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAGCAGGGCGGCGTGGCGG	0.622													False	0	True	2:26534165	0	T	26534165	C	T	26534165	3	4	11	1	0	0	0	0	1	0	0	0	6676	768	27	1	909	1	GPR113	2	26534165	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08		26534165	216665208	12	812											
CRIM1	51232	broad.mit.edu	37	chr2	36726453	36726453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcattaatggtttcaaacgCgatcacaatggttgtcggac	10	8	2	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:36726453C>T	ENST00000280527.2	+	8	1831	c.1464C>T	c.(1462-1464)cgC>cgT	p.R488R		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	488	Antistasin-like 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTTTCAAACGCGATCACAATG	0.408													False	0	False	2:36726453	0	T	36726453	C	T	36726453	2	4	11	1	0	0	0	0	0	0	0	1	3896	755	27	1		1	CRIM1	2	36726453	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	10192288	36726453	206472920	13	813											
QPCT	25797	broad.mit.edu	37	chr2	37571893	37571893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggcaggcggaagacacCggcgcgtcgtgggcaccctc	16	13	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:37571893C>T	ENST00000338415.3	+	1	177	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	QPCT_ENST00000537448.1_Missense_Mutation_p.R7W	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	7					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CGGAAGACACCGGCGCGTCGT	0.711													False	0	False	2:37571893	0	T	37571893	C	T	37571893	3	4	11	1	0	0	0	0	1	0	0	0	12953	643	23	1	21	1	QPCT	2	37571893	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	845440	37571893	205627480	14	814											
ABCG8	64241	broad.mit.edu	37	chr2	44102330	44102330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctacatcatcatctacGggatgcccacctactggctg	9	14	3	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:44102330G>A	ENST00000272286.2	+	11	1624	c.1534G>A	c.(1534-1536)Ggg>Agg	p.G512R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	512	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.G512W(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATCATCTACGGGATGCCCAC	0.562													False	0	True	2:44102330	0	A	44102330	G	A	44102330	3	1	11	1	0	0	0	0	1	0	0	0	72	1116	39	1	1576	1	ABCG8	2	44102330	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	6530437	44102330	199097043	15	815											
MAL	4118	broad.mit.edu	37	chr2	95715409	95715409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccatcacgatgcaagaCggcttcacctacaggcacta	8	15	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:95715409C>T	ENST00000309988.4	+	3	454	c.345C>T	c.(343-345)gaC>gaT	p.D115D	MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Silent_p.D59D|MAL_ENST00000353004.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	115	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CGATGCAAGACGGCTTCACCT	0.647													False	0	False	2:95715409	0	T	95715409	C	T	95715409	2	4	11	1	0	0	0	0	0	0	0	1	9266	535	19	1		1	MAL	2	95715409	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	51613079	95715409	147483964	16	816											
LCT	3938	broad.mit.edu	37	chr2	136567237	136567237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtagaacaaatctctttCgaacttgggttggctggaga	13	6	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:136567237C>T	ENST00000264162.2	-	8	2690	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	894	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAATCTCTTTCGAACTTGGGT	0.517													False	0	True	2:136567237	0	T	136567237	C	T	136567237	3	4	11	1	0	0	0	0	1	0	0	0	8744	893	31	1	3143	1	LCT	2	136567237	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	40851828	136567237	106632136	17	817											
LRP1B	53353	broad.mit.edu	37	chr2	141128374	141128374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgggctttatttttgcacCgaaactgatcttccttacat	7	9	1	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:141128374C>T	ENST00000389484.3	-	71	11884	c.10913G>A	c.(10912-10914)cGg>cAg	p.R3638Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3638	LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTTTGCACCGAAACTGATC	0.388										TSP Lung(27;0.18)			False	0	False	2:141128374	0	T	141128374	C	T	141128374	3	4	11	1	0	0	0	0	1	0	0	0	9017	652	23	1	2970	1	LRP1B	2	141128374	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	4561137	141128374	102070999	18	818											
NBEAL1	65065	broad.mit.edu	37	chr2	204009335	204009335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccaggtttgtgcaatgGcatcagctaagctaaatacc	8	11	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:204009335G>A	ENST00000449802.1	+	31	5107	c.4774G>A	c.(4774-4776)Gca>Aca	p.A1592T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1592							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGTGCAATGGCATCAGCTAA	0.403													False	0	False	2:204009335	0	A	204009335	G	A	204009335	3	1	11	1	0	0	0	0	1	0	0	0	10255	1203	42	2	4892	2	NBEAL1	2	204009335	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	62880961	204009335	39190038	19	819											
EPHA4	2043	broad.mit.edu	37	chr2	222307700	222307700	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctctctcttgccaggcacTttgagacgcccactgcatac	7	15	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:222307700T>G	ENST00000281821.2	-	11	1964	c.1923A>C	c.(1921-1923)aaA>aaC	p.K641N	EPHA4_ENST00000392071.4_Missense_Mutation_p.K590N|EPHA4_ENST00000409938.1_Missense_Mutation_p.K641N|EPHA4_ENST00000409854.1_Missense_Mutation_p.K641N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	641	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGCCAGGCACTTTGAGACGCC	0.448													False	0	True	2:222307700	0	G	222307700	T	G	222307700	3	3	11	1	0	0	0	0	1	0	0	0	5201	1606	56	4	1065	4	EPHA4	2	222307700	Missense_Mutation	SNP	T	TCGA-2J-AABO-01A-21D-A40W-08	18298365	222307700	20891673	20	820											
GBX2	2637	broad.mit.edu	37	chr2	237074778	237074778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggcgatctgcgagcgctCggtcaaggagaggtactttt	16	8	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:237074778C>T	ENST00000306318.4	-	2	1223	c.826G>A	c.(826-828)Gag>Aag	p.E276K	GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		TGCGAGCGCTCGGTCAAGGAG	0.602													False	0	False	2:237074778	0	T	237074778	C	T	237074778	3	4	11	1	0	0	0	0	1	0	0	0	6324	893	31	1	224	1	GBX2	2	237074778	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	14767078	237074778	6124595	21	821											
ESPNL	339768	broad.mit.edu	37	chr2	239037368	239037368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacagagacggcgctggcGggggacacctcagatggcct	18	11	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr2:239037368G>A	ENST00000343063.3	+	8	1499	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A	ESPNL_ENST00000409169.1_Silent_p.A368A|ESPNL_ENST00000409506.1_Silent_p.A44A	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	412										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CGGCGCTGGCGGGGGACACCT	0.701													False	0	True	2:239037368	0	A	239037368	G	A	239037368	2	1	11	1	0	0	0	0	0	0	0	1	5287	1103	39	1		1	ESPNL	2	239037368	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	1962590	239037368	4162005	22	822											
ALS2CL	259173	broad.mit.edu	37	chr3	46718503	46718503	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacggggaaggcacccacGcccagctgcctgcgatgggg	15	15	0	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:46718503G>A	ENST00000318962.4	-	17	1850	c.1767C>T	c.(1765-1767)ggC>ggT	p.G589G	ALS2CL_ENST00000383742.3_5'UTR|ALS2CL_ENST00000415953.1_Silent_p.G589G	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	589					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGGCACCCACGCCCAGCTGCC	0.677													False	0	True	3:46718503	0	A	46718503	G	A	46718503	2	1	11	1	0	0	0	0	0	0	0	1	551	1074	38	1		1	ALS2CL	3	46718503	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		46718503	151303927	23	823											
CELSR3	1951	broad.mit.edu	37	chr3	48677877	48677877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagcatagatgcgaccGtaagaggcagctggcacagc	13	13	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:48677877G>A	ENST00000544264.1	-	35	9436	c.9156C>T	c.(9154-9156)taC>taT	p.Y3052Y	CELSR3_ENST00000164024.4_Silent_p.Y3047Y			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3047					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGATGCGACCGTAAGAGGCAG	0.647													False	0	False	3:48677877	0	A	48677877	G	A	48677877	2	1	11	1	0	0	0	0	0	0	0	1	3246	1140	40	1		1	CELSR3	3	48677877	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	1959374	48677877	149344553	24	824											
FAM107A	11170	broad.mit.edu	37	chr3	58555463	58555463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggagctcctggtgactcCgagaggccttcacggggttc	16	11	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:58555463C>T	ENST00000394481.1	-	3	683	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	FAM107A_ENST00000474531.1_Missense_Mutation_p.R73Q|FAM107A_ENST00000360997.2_Missense_Mutation_p.R42Q|FAM107A_ENST00000464064.1_Missense_Mutation_p.R42Q|FAM107A_ENST00000447756.2_Missense_Mutation_p.R70Q	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	42					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CTGGTGACTCCGAGAGGCCTT	0.632													False	0	False	3:58555463	0	T	58555463	C	T	58555463	3	4	11	1	0	0	0	0	1	0	0	0	5425	652	23	1	321	1	FAM107A	3	58555463	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	9877586	58555463	139466967	25	825											
CBLB	868	broad.mit.edu	37	chr3	105456084	105456084	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatcaggattataactcctCccatcaggataaagataact	5	9	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:105456084C>T	ENST00000264122.4	-	8	1323	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.G334G|CBLB_ENST00000394027.3_Silent_p.G356G|CBLB_ENST00000403724.1_Silent_p.G334G	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	334	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TATAACTCCTCCCATCAGGAT	0.264			Mis S		AML								False	0	True	3:105456084	0	T	105456084	C	T	105456084	2	4	11	1	0	0	0	0	0	0	0	1	2721	842	30	2		2	CBLB	3	105456084	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	46900621	105456084	92566346	26	826											
KNG1	3827	broad.mit.edu	37	chr3	186443035	186443035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcttaatgaagtaaaaCgggcccaaagacaggtttgt	10	7	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr3:186443035C>T	ENST00000265023.4	+	4	762	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	KNG1_ENST00000287611.2_Missense_Mutation_p.R184W|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.R184W	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	184	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TGAAGTAAAACGGGCCCAAAG	0.398													False	0	True	3:186443035	0	T	186443035	C	T	186443035	3	4	11	1	0	0	0	0	1	0	0	0	8477	527	19	1	564	1	KNG1	3	186443035	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	80986951	186443035	11579395	27	827											
FAM193A	8603	broad.mit.edu	37	chr4	2702034	2702034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcaaaggctaaggtggtcGacctcatgtccatcacagag	11	10	3	1	rs139214563	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:2702034G>A	ENST00000324666.5	+	17	3613	c.3262G>A	c.(3262-3264)Gac>Aac	p.D1088N	FAM193A_ENST00000545951.1_Missense_Mutation_p.D1088N|FAM193A_ENST00000505311.1_Missense_Mutation_p.D1088N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D1088N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D1110N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1088										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TAAGGTGGTCGACCTCATGTC	0.542													False	0	False	4:2702034	0	A	2702034	G	A	2702034	3	1	11	1	0	0	0	0	1	0	0	0	5560	1058	37	1	3320	1	FAM193A	4	2702034	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		2702034	188452242	28	828											
POLR2B	5431	broad.mit.edu	37	chr4	57871882	57871882	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgcttgcattcttatttaGagggtaaggaattacagaat	10	5	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:57871882G>A	ENST00000381227.1	+	10	1627	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	POLR2B_ENST00000441246.2_Missense_Mutation_p.R398K|POLR2B_ENST00000431623.2_Missense_Mutation_p.R330K|POLR2B_ENST00000314595.5_Missense_Mutation_p.R405K			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	405					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTCTTATTTAGAGGGTAAGGA	0.413													False	0	False	4:57871882	0	A	57871882	G	A	57871882	3	1	11	1	0	0	0	0	1	0	0	0	12284	942	33	2	1248	2	POLR2B	4	57871882	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	55169848	57871882	133282394	29	829											
LIN54	132660	broad.mit.edu	37	chr4	83905426	83905426	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacaggtttcacctctggcCtccctccaatggtaactact	7	14	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:83905426C>A	ENST00000340417.3	-	2	949	c.572G>T	c.(571-573)aGg>aTg	p.R191M	LIN54_ENST00000395282.2_Missense_Mutation_p.R191M|LIN54_ENST00000506560.1_Missense_Mutation_p.R191M|LIN54_ENST00000505397.1_Missense_Mutation_p.R191M|LIN54_ENST00000395283.2_Missense_Mutation_p.R191M|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000442461.2_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	191					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CACCTCTGGCCTCCCTCCAAT	0.478													False	0	True	4:83905426	0	A	83905426	C	A	83905426	3	1	11	1	0	0	0	0	1	0	0	0	8862	681	24	3	1725	3	LIN54	4	83905426	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	26033544	83905426	107248850	30	830											
EGF	1950	broad.mit.edu	37	chr4	110880564	110880564	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catgtgtgcagagggatacgCcctaagtcgagaccggaagt	14	9	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:110880564C>G	ENST00000265171.5	+	6	1482	c.1037C>G	c.(1036-1038)gCc>gGc	p.A346G	EGF_ENST00000509793.1_Intron|EGF_ENST00000503392.1_Missense_Mutation_p.A346G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	346	EGF-like 1.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GAGGGATACGCCCTAAGTCGA	0.498													False	0	True	4:110880564	0	G	110880564	C	G	110880564	3	3	11	1	0	0	0	0	1	0	0	0	4992	739	26	5	1059	5	EGF	4	110880564	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	26975138	110880564	80273712	31	831											
ANK2	287	broad.mit.edu	37	chr4	114275125	114275125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagatgaacagaaaggtcGaagcaagttgcccatcagag	13	7	1	4			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:114275125G>A	ENST00000357077.4	+	38	5404	c.5351G>A	c.(5350-5352)cGa>cAa	p.R1784Q	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1751Q|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1751	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGAAAGGTCGAAGCAAGTTG	0.498													False	0	False	4:114275125	0	A	114275125	G	A	114275125	3	1	11	1	0	0	0	0	1	0	0	0	621	1058	37	1	5566	1	ANK2	4	114275125	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	3394561	114275125	76879151	32	832											
IL21	59067	broad.mit.edu	37	chr4	123542066	123542066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcattctaatcatgtggCgatcttgaccttgggagctt	11	9	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:123542066C>T	ENST00000264497.3	-	1	158	c.101G>A	c.(100-102)cGc>cAc	p.R34H	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	27					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AATCATGTGGCGATCTTGACC	0.398													False	0	False	4:123542066	0	T	123542066	C	T	123542066	3	4	11	1	0	0	0	0	1	0	0	0	7720	768	27	1	407	1	IL21	4	123542066	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	9266941	123542066	67612210	33	833											
MAML3	55534	broad.mit.edu	37	chr4	140810661	140810661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgttgctgttgctgctgctg	14	11	0	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:140810661C>T	ENST00000509479.2	-	2	2785	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	MAML3_ENST00000327122.5_Silent_p.Q487Q|MAML3_ENST00000398940.1_Silent_p.Q171Q	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	639	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgttgctgtt	0.587													False	0	True	4:140810661	0	T	140810661	C	T	140810661	2	4	11	1	0	0	0	0	0	0	0	1	9274	796	28	2		2	MAML3	4	140810661	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	17268595	140810661	50343615	34	834											
TBC1D9	23158	broad.mit.edu	37	chr4	141543566	141543566	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccggggcagtgccgccgtgCcctggccgctccgcaccagg	15	18	0	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:141543566C>A	ENST00000442267.2	-	21	3658	c.3584G>T	c.(3583-3585)gGc>gTc	p.G1195V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1195						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGCCGCCGTGCCCTGGCCGCT	0.662													False	0	True	4:141543566	0	A	141543566	C	A	141543566	3	1	11	1	0	0	0	0	1	0	0	0	15709	739	26	3	220	3	TBC1D9	4	141543566	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	732905	141543566	49610710	35	835											
ADAM29	11086	broad.mit.edu	37	chr4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattgttgaaattgtagtcGtcattgataattatctgtac	9	4	2	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr4:175897289G>A	ENST00000359240.3	+	5	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	ADAM29_ENST00000445694.1_Missense_Mutation_p.V205I|ADAM29_ENST00000404450.4_Missense_Mutation_p.V205I|ADAM29_ENST00000514159.1_Missense_Mutation_p.V205I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	205	Peptidase M12B.		V -> I (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V205I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348													False	0	False	4:175897289	0	A	175897289	G	A	175897289	3	1	11	1	0	0	0	0	1	0	0	0	247	1145	40	1	615	1	ADAM29	4	175897289	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	34353723	175897289	15256987	36	836											
PRDM9	56979	broad.mit.edu	37	chr5	23526988	23526988	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtcagtcctcctcacTcaccagaggacacacacagg	9	15	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:23526988T>A	ENST00000296682.3	+	11	1973	c.1791T>A	c.(1789-1791)acT>acA	p.T597T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	597					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCCTCACTCACCAGAGGA	0.592										HNSCC(3;0.000094)			False	0	True	5:23526988	0	A	23526988	T	A	23526988	2	1	11	1	0	0	0	0	0	0	0	1	12539	1538	54	5		5	PRDM9	5	23526988	Silent	SNP	T	TCGA-2J-AABO-01A-21D-A40W-08		23526988	157388272	37	837											
MCTP1	79772	broad.mit.edu	37	chr5	94114845	94114845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcatcttcttcttcctcGtcctctagcatgtcctccac	4	16	5	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:94114845G>A	ENST00000515393.1	-	19	2579	c.2580C>T	c.(2578-2580)gaC>gaT	p.D860D	MCTP1_ENST00000505078.1_Silent_p.D376D|MCTP1_ENST00000429576.2_Silent_p.D553D|MCTP1_ENST00000312216.8_Silent_p.D639D|MCTP1_ENST00000514040.1_5'UTR	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	860					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTCTTCCTCGTCCTCTAGCA	0.423													False	0	False	5:94114845	0	A	94114845	G	A	94114845	2	1	11	1	0	0	0	0	0	0	0	1	9467	1136	40	1		1	MCTP1	5	94114845	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	70587857	94114845	86800415	38	838											
DCP2	167227	broad.mit.edu	37	chr5	112337346	112337346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaactggtagcacgccgGctaaacccactgtggaaaaa	9	13	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:112337346G>A	ENST00000389063.2	+	7	979	c.781G>A	c.(781-783)Gct>Act	p.A261T	DCP2_ENST00000543319.1_Missense_Mutation_p.A50T|DCP2_ENST00000515408.1_Missense_Mutation_p.A261T	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	261					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TAGCACGCCGGCTAAACCCAC	0.373													False	0	False	5:112337346	0	A	112337346	G	A	112337346	3	1	11	1	0	0	0	0	1	0	0	0	4325	1203	42	2	807	2	DCP2	5	112337346	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	18222501	112337346	68577914	39	839											
FTMT	94033	broad.mit.edu	37	chr5	121188321	121188321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagtgaagatgggggccccGgatgctggcctggcggagta	18	8	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:121188321G>A	ENST00000321339.1	+	1	672	c.663G>A	c.(661-663)ccG>ccA	p.P221P		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	221					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGGGGGCCCCGGATGCTGGCC	0.502													False	0	True	5:121188321	0	A	121188321	G	A	121188321	2	1	11	1	0	0	0	0	0	0	0	1	6127	1103	39	1		1	FTMT	5	121188321	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	8850975	121188321	59726939	40	840											
CSNK1G3	1456	broad.mit.edu	37	chr5	122923840	122923840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagtcttccttggcaagGcttaaaggtaattgtttttg	11	6	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:122923840G>A	ENST00000395412.1	+	7	1471	c.752G>A	c.(751-753)gGc>gAc	p.G251D	CSNK1G3_ENST00000345990.4_Missense_Mutation_p.G251D|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.G251D|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.G176D|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.G251D|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.G251D|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.G251D|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.G138D			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	251	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		CCTTGGCAAGGCTTAAAGGTA	0.284													False	0	False	5:122923840	0	A	122923840	G	A	122923840	3	1	11	1	0	0	0	0	1	0	0	0	3981	1203	42	2	774	2	CSNK1G3	5	122923840	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	1735519	122923840	57991420	41	841											
FSTL4	23105	broad.mit.edu	37	chr5	132559896	132559896	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtaccttcctctcgccacAggatgtttgcaactgcagca	9	13	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr5:132559896A>G	ENST00000265342.7	-	11	1574	c.1325T>C	c.(1324-1326)cTg>cCg	p.L442P	CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA|FSTL4_ENST00000507112.1_Intron	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	442						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTCGCCACAGGATGTTTGC	0.483													False	0	False	5:132559896	0	G	132559896	A	G	132559896	3	3	11	1	0	0	0	0	1	0	0	0	6121	188	7	4	1227	4	FSTL4	5	132559896	Missense_Mutation	SNP	A	TCGA-2J-AABO-01A-21D-A40W-08	9636056	132559896	48355364	42	842											
ABCC10	89845	broad.mit.edu	37	chr6	43406443	43406443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggatccagtttgccacCatccgagacaacatcctctt	6	16	1	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:43406443C>T	ENST00000244533.3	+	6	2312	c.1953C>T	c.(1951-1953)acC>acT	p.T651T	ABCC10_ENST00000372530.4_Silent_p.T679T	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	679	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGTTTGCCACCATCCGAGACA	0.592													False	0	False	6:43406443	0	T	43406443	C	T	43406443	2	4	11	1	0	0	0	0	0	0	0	1	50	581	21	2		2	ABCC10	6	43406443	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08		43406443	127708624	43	843											
BCLAF1	9774	broad.mit.edu	37	chr6	136590607	136590607	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagatttgtattccttgtaAtcttttggagttttttcctg	7	5	1	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr6:136590607A>G	ENST00000531224.1	-	9	2439	c.2187T>C	c.(2185-2187)gaT>gaC	p.D729D	BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Silent_p.D556D|BCLAF1_ENST00000392348.2_Silent_p.D727D|BCLAF1_ENST00000353331.4_Silent_p.D727D|BCLAF1_ENST00000527759.1_Silent_p.D727D|BCLAF1_ENST00000527536.1_Silent_p.D729D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	729					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATTCCTTGTAATCTTTTGGAG	0.363													False	0	False	6:136590607	0	G	136590607	A	G	136590607	2	3	11	1	0	0	0	0	0	0	0	1	1387	98	4	4		4	BCLAF1	6	136590607	Silent	SNP	A	TCGA-2J-AABO-01A-21D-A40W-08	93184164	136590607	34524460	44	844											
RBAK	57786	broad.mit.edu	37	chr7	5104238	5104238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgggaaatccttctcccGcaagtctgctctcagtgacc	9	13	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:5104238G>A	ENST00000396912.1	+	5	1670	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.R384H|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	384					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TCCTTCTCCCGCAAGTCTGCT	0.463													False	0	True	7:5104238	0	A	5104238	G	A	5104238	3	1	11	1	0	0	0	0	1	0	0	0	13179	1087	38	1	1165	1	RBAK	7	5104238	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		5104238	154034425	45	845											
NOS3	4846	broad.mit.edu	37	chr7	150698985	150698985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgacaatcctgtatggctccGagaccggccgggcccagagc	13	15	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr7:150698985G>A	ENST00000297494.3	+	13	1936	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	NOS3_ENST00000467517.1_Missense_Mutation_p.E527K|NOS3_ENST00000484524.1_Missense_Mutation_p.E527K|NOS3_ENST00000461406.1_Missense_Mutation_p.E321K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	527	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GTATGGCTCCGAGACCGGCCG	0.652													False	0	False	7:150698985	0	A	150698985	G	A	150698985	3	1	11	1	0	0	0	0	1	0	0	0	10612	1059	37	1	1625	1	NOS3	7	150698985	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	145594747	150698985	8439678	46	846											
LZTS1	11178	broad.mit.edu	37	chr8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-													agctcattctcacagacctcCagctccaggcccttggtgcg					rs148039718	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENST00000381569.1	-	4	1651_1698	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel	p.RTQDLEGALRTKGLEL432del	LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	432					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACAGACCTCCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCTCAGCTCCAGG	0.657													False	1	True	8:20107683	0	-	20107730	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	20107683	7	5	11	1	0	1	0	1	0	0	0	0	9201	581	21	0	453	0	LZTS1	8	20107683	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	TCGA-2J-AABO-01A-21D-A40W-08		20107683	126256339	47	847											
MOS	4342	broad.mit.edu	37	chr8	57026538	57026538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtagggccaggggcgaggGcatcgcactttgcaggggga	20	9	0	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr8:57026538G>A	ENST00000311923.1	-	1	3	c.4C>T	c.(4-6)Ccc>Tcc	p.P2S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	2							ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AGGGGCGAGGGCATCGCACTT	0.632													False	0	True	8:57026538	0	A	57026538	G	A	57026538	3	1	11	1	0	0	0	0	1	0	0	0	9779	1203	42	2	1039	2	MOS	8	57026538	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	36918855	57026538	89337484	48	848											
GABBR2	9568	broad.mit.edu	37	chr9	101216358	101216358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctggatccgctggtgccGgctgctggcatgcagtgtct	15	12	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:101216358G>A	ENST00000259455.2	-	7	1600	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	381					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.R381W(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGCTGGTGCCGGCTGCTGGCA	0.607													False	0	False	9:101216358	0	A	101216358	G	A	101216358	3	1	11	1	0	0	0	0	1	0	0	0	6198	1115	39	1	1736	1	GABBR2	9	101216358	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		101216358	39997073	49	849											
DDX31	64794	broad.mit.edu	37	chr9	135523898	135523898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttatatgatccaccaggcGtccaggagttgagataagga	11	7	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:135523898G>A	ENST00000372159.3	-	10	1247	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	DDX31_ENST00000372153.1_Missense_Mutation_p.R366C|DDX31_ENST00000310532.2_Missense_Mutation_p.R366C|DDX31_ENST00000438527.3_Missense_Mutation_p.R237C	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	366	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCCACCAGGCGTCCAGGAGTT	0.413													False	0	False	9:135523898	0	A	135523898	G	A	135523898	3	1	11	1	0	0	0	0	1	0	0	0	4381	1145	40	1	1510	1	DDX31	9	135523898	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	34307540	135523898	5689533	50	850											
OLFM1	10439	broad.mit.edu	37	chr9	138011686	138011686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacgccaccaaccagaacGctggcaacatcgtggtcagt	10	13	1	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:138011686G>A	ENST00000252854.4	+	6	1253	c.1066G>A	c.(1066-1068)Gct>Act	p.A356T	OLFM1_ENST00000371793.3_Missense_Mutation_p.A374T|OLFM1_ENST00000371796.3_Missense_Mutation_p.A347T	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	374	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CAACCAGAACGCTGGCAACAT	0.627													False	0	False	9:138011686	0	A	138011686	G	A	138011686	3	1	11	1	0	0	0	0	1	0	0	0	10920	1087	38	1	1098	1	OLFM1	9	138011686	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	2487788	138011686	3201745	51	851											
KCNT1	57582	broad.mit.edu	37	chr9	138670646	138670646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggacgccaagaccatcGtcaacgtgcagaccatgttc	11	13	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr9:138670646G>A	ENST00000298480.5	+	23	2781	c.2707G>A	c.(2707-2709)Gtc>Atc	p.V903I	KCNT1_ENST00000371757.2_Missense_Mutation_p.V903I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V862I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V882I|KCNT1_ENST00000263604.3_Missense_Mutation_p.V884I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V858I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V870I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V884I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	903						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAAGACCATCGTCAACGTGCA	0.637													False	0	False	9:138670646	0	A	138670646	G	A	138670646	3	1	11	1	0	0	0	0	1	0	0	0	8141	1145	40	1	2797	1	KCNT1	9	138670646	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	658960	138670646	2542785	52	852											
ADARB2	105	broad.mit.edu	37	chr10	1406022	1406022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctcttcgcgccgggcGcgccgccccgggcccggtcc	14	21	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:1406022G>A	ENST00000381312.1	-	3	603	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	93					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		cgcgccgggcgcgccgccccg	0.726													False	0	True	10:1406022	0	A	1406022	G	A	1406022	3	1	11	1	0	0	0	0	1	0	0	0	283	1087	38	1	1973	1	ADARB2	10	1406022	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		1406022	134128725	53	853											
TAF3	83860	broad.mit.edu	37	chr10	8006929	8006929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaacaccttcaaatatgCcccccaactttccttatatc	4	14	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:8006929C>T	ENST00000344293.5	+	3	1662	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	486					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTCAAATATGCCCCCCAACTT	0.488													False	0	True	10:8006929	0	T	8006929	C	T	8006929	3	4	11	1	0	0	0	0	1	0	0	0	15607	739	26	2	1466	2	TAF3	10	8006929	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	6600907	8006929	127527818	54	854											
ABCC2	1244	broad.mit.edu	37	chr10	101594176	101594176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccctgcctcagtccttgCgcagctggattacatgcttc	8	15	1	0	rs142715085	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:101594176C>T	ENST00000370449.4	+	24	3411	c.3298C>T	c.(3298-3300)Cgc>Tgc	p.R1100C		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1100	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.R1100C(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCAGTCCTTGCGCAGCTGGAT	0.468													False	0	False	10:101594176	0	T	101594176	C	T	101594176	3	4	11	1	0	0	0	0	1	0	0	0	53	768	27	1	3392	1	ABCC2	10	101594176	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	93587247	101594176	33940571	55	855											
SEMA4G	57715	broad.mit.edu	37	chr10	102743445	102743445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcctctgcctcatcctgGcctcctccctcctctatgtg	8	18	3	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr10:102743445G>A	ENST00000210633.3	+	14	2167	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000370250.4_Missense_Mutation_p.A692T|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000318325.2_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	692					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCTCATCCTGGCCTCCTCCCT	0.642													False	0	False	10:102743445	0	A	102743445	G	A	102743445	3	1	11	1	0	0	0	0	1	0	0	0	14117	1203	42	2	2143	2	SEMA4G	10	102743445	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	1149269	102743445	32791302	56	856											
IRF7	3665	broad.mit.edu	37	chr11	613572	613572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccttgtacatgatggtcaCgtccagcgcccctgggctgg	13	14	1	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:613572C>T	ENST00000397566.1	-	7	1319	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	IRF7_ENST00000348655.6_Missense_Mutation_p.V262M|IRF7_ENST00000397574.2_Missense_Mutation_p.V291M|IRF7_ENST00000397562.3_De_novo_Start_InFrame|IRF7_ENST00000330243.5_Missense_Mutation_p.V304M|IRF7_ENST00000397570.1_Missense_Mutation_p.V262M|IRF7_ENST00000525445.1_Missense_Mutation_p.V185M	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	291					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGATGGTCACGTCCAGCGCC	0.682													False	0	False	11:613572	0	T	613572	C	T	613572	3	4	11	1	0	0	0	0	1	0	0	0	7885	536	19	1	652	1	IRF7	11	613572	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08		613572	134392944	57	857											
NLRP14	338323	broad.mit.edu	37	chr11	7081264	7081264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttctgtgtgatgtctttCggcatccaagctgtaatctt	9	9	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:7081264C>T	ENST00000299481.4	+	9	3119	c.2773C>T	c.(2773-2775)Cgg>Tgg	p.R925W		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	925					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGATGTCTTTCGGCATCCAAG	0.428													False	0	True	11:7081264	0	T	7081264	C	T	7081264	3	4	11	1	0	0	0	0	1	0	0	0	10544	875	31	1	2803	1	NLRP14	11	7081264	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	6467692	7081264	127925252	58	858											
DENND5A	23258	broad.mit.edu	37	chr11	9192301	9192301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtatggtcaatttttgCcagacgcagctcaattgctt	9	9	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:9192301C>T	ENST00000328194.3	-	9	2250	c.1930G>A	c.(1930-1932)Gca>Aca	p.A644T	DENND5A_ENST00000530044.1_Missense_Mutation_p.A644T|DENND5A_ENST00000527700.1_5'UTR	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	644										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCAATTTTTGCCAGACGCAGC	0.413													False	0	False	11:9192301	0	T	9192301	C	T	9192301	3	4	11	1	0	0	0	0	1	0	0	0	4466	739	26	2	1993	2	DENND5A	11	9192301	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	2111037	9192301	125814215	59	859											
HIPK3	10114	broad.mit.edu	37	chr11	33373763	33373763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagtgggtactcgtcaGcaaaaattgacatcagcatt	9	9	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:33373763G>A	ENST00000303296.4	+	16	3428	c.3123G>A	c.(3121-3123)caG>caA	p.Q1041Q	HIPK3_ENST00000456517.1_Silent_p.Q1020Q|HIPK3_ENST00000525975.1_Silent_p.Q1020Q|HIPK3_ENST00000379016.3_Silent_p.Q1020Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1041					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GTACTCGTCAGCAAAAATTGA	0.413													False	0	False	11:33373763	0	A	33373763	G	A	33373763	2	1	11	1	0	0	0	0	0	0	0	1	7165	962	34	2		2	HIPK3	11	33373763	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	24181462	33373763	101632753	60	860											
CD44	960	broad.mit.edu	37	chr11	35218362	35218362	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaaacctgggattggttttCatggttgtttctaccatcag	10	7	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:35218362C>A	ENST00000428726.2	+	6	860	c.737C>A	c.(736-738)tCa>tAa	p.S246*	CD44_ENST00000415148.2_Intron|CD44_ENST00000437706.2_Nonsense_Mutation_p.S246*|CD44_ENST00000434472.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000449691.2_Nonsense_Mutation_p.S246*|CD44_ENST00000278386.6_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000433354.2_Nonsense_Mutation_p.S246*|CD44_ENST00000360158.4_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000526669.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	246	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	GATTGGTTTTCATGGTTGTTT	0.383													False	0	True	11:35218362	0	A	35218362	C	A	35218362	4	1	11	1	0	0	0	0	0	1	0	0	3040	838	29	3	759	3	CD44	11	35218362	Nonsense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	1844599	35218362	99788154	61	861											
RAG1	5896	broad.mit.edu	37	chr11	36597180	36597180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagtctgtggaagaactgCgggatcgggtgaaaggggtc	18	5	1	3	rs121918572		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:36597180C>T	ENST00000299440.5	+	2	2438	c.2326C>T	c.(2326-2328)Cgg>Tgg	p.R776W		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	776					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R776R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGAACTGCGGGATCGGGT	0.483									Familial Hemophagocytic Lymphohistiocytosis				False	0	True	11:36597180	0	T	36597180	C	T	36597180	3	4	11	1	0	0	0	0	1	0	0	0	13082	759	27	1	2328	1	RAG1	11	36597180	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	1378818	36597180	98409336	62	862											
OR5M1	390168	broad.mit.edu	37	chr11	56380401	56380401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattgccatctttttgacaCgggtgtcagagcaggccagc	11	11	2	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:56380401C>T	ENST00000526538.1	-	1	577	c.578G>A	c.(577-579)cGt>cAt	p.R193H		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CTTTTTGACACGGGTGTCAGA	0.433													False	0	True	11:56380401	0	T	56380401	C	T	56380401	3	4	11	1	0	0	0	0	1	0	0	0	11240	536	19	1	373	1	OR5M1	11	56380401	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	19783221	56380401	78626115	63	863											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076887	57076887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccctgggctaaatgctgCctctcgctgggggccaacac	12	15	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:57076887C>T	ENST00000532437.1	-	5	3609	c.3298G>A	c.(3298-3300)Gca>Aca	p.A1100T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1100T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1100	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTAAATGCTGCCTCTCGCTGG	0.607													False	0	False	11:57076887	0	T	57076887	C	T	57076887	3	4	11	1	0	0	0	0	1	0	0	0	16402	739	26	2	1915	2	TNKS1BP1	11	57076887	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	696486	57076887	77929629	64	864											
HRASLS5	117245	broad.mit.edu	37	chr11	63233706	63233706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggatgatcttgtccaccGgcaagggcaggtacgtccca	13	12	1	1	rs80217781	by1000genomes	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:63233706G>A	ENST00000540857.1	-	5	725	c.593C>T	c.(592-594)cCg>cTg	p.P198L	HRASLS5_ENST00000539221.1_Missense_Mutation_p.P208L|HRASLS5_ENST00000301790.4_Missense_Mutation_p.P208L	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	208										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTTGTCCACCGGCAAGGGCAG	0.512													False	0	False	11:63233706	0	A	63233706	G	A	63233706	3	1	11	1	0	0	0	0	1	0	0	0	7398	1116	39	1	224	1	HRASLS5	11	63233706	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	6156819	63233706	71772810	65	865											
FAT3	120114	broad.mit.edu	37	chr11	92600211	92600211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttccagggctgcctggactCggtgatactgaataacaatg	11	10	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:92600211C>T	ENST00000298047.6	+	21	11980	c.11963C>T	c.(11962-11964)tCg>tTg	p.S3988L	FAT3_ENST00000525166.1_Missense_Mutation_p.S3838L|FAT3_ENST00000533797.1_Missense_Mutation_p.S323L|FAT3_ENST00000409404.2_Missense_Mutation_p.S3988L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3988	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S3988L(2)|p.S563L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCCTGGACTCGGTGATACTG	0.617										TCGA Ovarian(4;0.039)			False	0	False	11:92600211	0	T	92600211	C	T	92600211	3	4	11	1	0	0	0	0	1	0	0	0	5731	893	31	1	12045	1	FAT3	11	92600211	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	29366505	92600211	42406305	66	866											
ABCG4	64137	broad.mit.edu	37	chr11	119030980	119030980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcattgtgtactggatgaCgggccagcccgctgagacca	13	12	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:119030980C>T	ENST00000307417.3	+	13	1845	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M|ABCG4_ENST00000449422.2_Missense_Mutation_p.T494M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	494	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.T494M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TACTGGATGACGGGCCAGCCC	0.647													False	0	True	11:119030980	0	T	119030980	C	T	119030980	3	4	11	1	0	0	0	0	1	0	0	0	70	536	19	1	1527	1	ABCG4	11	119030980	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	26430769	119030980	15975536	67	867											
CBL	867	broad.mit.edu	37	chr11	119144654	119144654	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gttctgggctggaggccatgGctctgaaatccactattgat	12	9	2	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr11:119144654G>C	ENST00000264033.4	+	4	1043	c.667G>C	c.(667-669)Gct>Cct	p.A223P		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	223	Cbl-PTB.|EF-hand-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGAGGCCATGGCTCTGAAATC	0.473			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				False	0	False	11:119144654	0	C	119144654	G	C	119144654	3	2	11	1	0	0	0	0	1	0	0	0	2720	1203	42	5	681	5	CBL	11	119144654	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	113674	119144654	15861862	68	868											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	11	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08		25398284	108453611	69	869											
KRT83	3889	broad.mit.edu	37	chr12	52715017	52715017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagatgccgcggtagggggCggcggtgatgcagcagcggc	22	9	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:52715017C>T	ENST00000293670.3	-	1	165	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	35	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGTAGGGGGCGGCGGTGATG	0.697													False	0	True	12:52715017	0	T	52715017	C	T	52715017	3	4	11	1	0	0	0	0	1	0	0	0	8547	768	27	1	1414	1	KRT83	12	52715017	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	27316733	52715017	81136878	70	870											
OR6C6	283365	broad.mit.edu	37	chr12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaaaaaggagaaattaCggagaaagaaatacattggc	9	6	0	3			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:55688832C>T	ENST00000358433.2	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGAAATTACGGAGAAAGAA	0.388													False	0	False	12:55688832	0	T	55688832	C	T	55688832	3	4	11	1	0	0	0	0	1	0	0	0	11262	536	19	1	761	1	OR6C6	12	55688832	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	2973815	55688832	78163063	71	871											
ITGA7	3679	broad.mit.edu	37	chr12	56082681	56082681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatgcagcacagccgcgcGgtcaaagctgtagagtgggc	15	11	1	1	rs17857368		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:56082681G>A	ENST00000257880.7	-	23	3256	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	ITGA7_ENST00000553804.1_Missense_Mutation_p.R973C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R973C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R969C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R876C|ITGA7_ENST00000555728.1_Missense_Mutation_p.R1013C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R969C|ITGA7_ENST00000347027.6_Missense_Mutation_p.R963C			Q13683	ITA7_HUMAN	integrin, alpha 7	1013					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACAGCCGCGCGGTCAAAGCTG	0.587													False	0	True	12:56082681	0	A	56082681	G	A	56082681	3	1	11	1	0	0	0	0	1	0	0	0	7931	1116	39	1	524	1	ITGA7	12	56082681	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	393849	56082681	77769214	72	872											
ERBB3	2065	broad.mit.edu	37	chr12	56480377	56480377	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttgtcacatggacacaattGactggagggacatcgtgagg	13	7	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:56480377G>T	ENST00000267101.3	+	4	924	c.484G>T	c.(484-486)Gac>Tac	p.D162Y	ERBB3_ENST00000415288.2_Missense_Mutation_p.D103Y|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	162					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGACACAATTGACTGGAGGGA	0.502													False	0	False	12:56480377	0	T	56480377	G	T	56480377	3	4	11	1	0	0	0	0	1	0	0	0	5240	1290	45	3	629	3	ERBB3	12	56480377	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	397696	56480377	77371518	73	873											
GAS2L3	283431	broad.mit.edu	37	chr12	101005850	101005850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgctcgggacaataccGcaaacttccttcactggtgt	8	12	2	0	rs143611209	byFrequency	TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr12:101005850G>A	ENST00000537247.1	+	6	1018	c.64G>A	c.(64-66)Gca>Aca	p.A22T	GAS2L3_ENST00000539410.1_Missense_Mutation_p.A126T|GAS2L3_ENST00000547754.1_Missense_Mutation_p.A126T|GAS2L3_ENST00000266754.5_Missense_Mutation_p.A126T			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	126					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GGACAATACCGCAAACTTCCT	0.378													False	0	False	12:101005850	0	A	101005850	G	A	101005850	3	1	11	1	0	0	0	0	1	0	0	0	6291	1087	38	1	390	1	GAS2L3	12	101005850	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	44525473	101005850	32846045	74	874											
DGKH	160851	broad.mit.edu	37	chr13	42764629	42764629	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatgaatctaaggaggaagCtaaagatgatggtgccaaag	13	4	1	4			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:42764629C>A	ENST00000261491.5	+	16	2024	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D	DGKH_ENST00000337343.4_Missense_Mutation_p.A668D|DGKH_ENST00000538674.1_Missense_Mutation_p.A423D|DGKH_ENST00000536612.1_Missense_Mutation_p.A532D|DGKH_ENST00000540693.1_Missense_Mutation_p.A668D|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000379274.2_Missense_Mutation_p.A532D	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AAGGAGGAAGCTAAAGATGAT	0.373													False	0	False	13:42764629	0	A	42764629	C	A	42764629	3	1	11	1	0	0	0	0	1	0	0	0	4500	797	28	3	2065	3	DGKH	13	42764629	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08		42764629	72405249	75	875											
LMO7	4008	broad.mit.edu	37	chr13	76379654	76379654	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccaatgtggagaactgGccaactgtacaaggaacttc	11	10	0	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr13:76379654G>A	ENST00000357063.3	+	10	2370	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*	LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Nonsense_Mutation_p.W85*|LMO7_ENST00000321797.8_Nonsense_Mutation_p.W85*|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Nonsense_Mutation_p.W370*|RP11-29G8.3_ENST00000563635.1_RNA			Q8WWI1	LMO7_HUMAN	LIM domain 7	370						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGAGAACTGGCCAACTGTAC	0.408													False	0	False	13:76379654	0	A	76379654	G	A	76379654	4	1	11	1	0	0	0	0	0	1	0	0	8908	1212	42	2	1148	2	LMO7	13	76379654	Nonsense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	33615025	76379654	38790224	76	876											
TINF2	26277	broad.mit.edu	37	chr14	24709046	24709046	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacagtcacaggaagaaacaGgtatggcaccgtggccagaa	12	9	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:24709046G>T	ENST00000267415.7	-	9	1654	c.1313C>A	c.(1312-1314)cCt>cAt	p.P438H	TINF2_ENST00000540705.1_Missense_Mutation_p.P403H|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000558566.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	438					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GGAAGAAACAGGTATGGCACC	0.458									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				False	0	False	14:24709046	0	T	24709046	G	T	24709046	3	4	11	1	0	0	0	0	1	0	0	0	16005	1000	35	3	46	3	TINF2	14	24709046	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		24709046	82640494	77	877											
SEC23A	10484	broad.mit.edu	37	chr14	39524367	39524367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtcgaatgagctgtctgtCcagccacctaagcacatctg	9	13	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:39524367C>T	ENST00000537403.1	-	10	2235	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	SEC23A_ENST00000307712.6_Missense_Mutation_p.D547N|SEC23A_ENST00000545328.2_Missense_Mutation_p.D518N|SEC23A_ENST00000536508.1_Missense_Mutation_p.D421N			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	547					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGCTGTCTGTCCAGCCACCTA	0.418													False	0	True	14:39524367	0	T	39524367	C	T	39524367	3	4	11	1	0	0	0	0	1	0	0	0	14072	855	30	2	686	2	SEC23A	14	39524367	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	14815321	39524367	67825173	78	878											
RPL36AL	6166	broad.mit.edu	37	chr14	50085694	50085694	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaccatagccactctgcttCcgatcatagcgcctccttcc	5	19	2	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085694C>T	ENST00000298289.6	-	2	288	c.129G>A	c.(127-129)cgG>cgA	p.R43R		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	43					translation	ribosome	structural constituent of ribosome					all_epithelial(31;0.0021)|Breast(41;0.0124)					CACTCTGCTTCCGATCATAGC	0.483													False	0	False	14:50085694	0	T	50085694	C	T	50085694	2	4	11	1	0	0	0	0	0	0	0	1	13667	842	30	2		2	RPL36AL	14	50085694	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	10561327	50085694	57263846	79	879			1	3		3	3	49	C		1.723123e-08
RPL36AL	6166	broad.mit.edu	37	chr14	50085724	50085724	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcctccttccctgggcataCaaagaatccttgcccttctt	6	16	1	1	rs1804401		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085724C>G	ENST00000298289.6	-	2	258	c.99G>C	c.(97-99)ttG>ttC	p.L33F		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	33					translation	ribosome	structural constituent of ribosome					all_epithelial(31;0.0021)|Breast(41;0.0124)					CCTGGGCATACAAAGAATCCT	0.478													False	0	True	14:50085724	0	G	50085724	C	G	50085724	3	3	11	1	0	0	0	0	1	0	0	0	13667	477	17	5	225	5	RPL36AL	14	50085724	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	30	50085724	57263816	80	880			1	3		3	3	49	C		1.723123e-08
RPL36AL	6166	broad.mit.edu	37	chr14	50085742	50085742	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacaaagaatccttgcccttCttatactgtgtcactttgtg	6	10	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:50085742C>T	ENST00000298289.6	-	2	240	c.81G>A	c.(79-81)aaG>aaA	p.K27K		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	27					translation	ribosome	structural constituent of ribosome					all_epithelial(31;0.0021)|Breast(41;0.0124)					CCTTGCCCTTCTTATACTGTG	0.488													False	0	False	14:50085742	0	T	50085742	C	T	50085742	2	4	11	1	0	0	0	0	0	0	0	1	13667	912	32	2		2	RPL36AL	14	50085742	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	18	50085742	57263798	81	881			1	3		3	3	49	C		1.723123e-08
DACT1	51339	broad.mit.edu	37	chr14	59113461	59113461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtggggctgtaccccgCgcctgtgcctctgccctacg	13	15	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:59113461C>T	ENST00000395153.3	+	4	2156	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V	DACT1_ENST00000335867.4_Missense_Mutation_p.A707V|DACT1_ENST00000541264.2_Missense_Mutation_p.A426V|DACT1_ENST00000556859.1_Missense_Mutation_p.A426V	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	707					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTGTACCCCGCGCCTGTGCCT	0.677													False	0	False	14:59113461	0	T	59113461	C	T	59113461	3	4	11	1	0	0	0	0	1	0	0	0	4247	768	27	1	2134	1	DACT1	14	59113461	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	9027719	59113461	48236079	82	882											
KCNH5	27133	broad.mit.edu	37	chr14	63174356	63174356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgaggcctggggtacgCttttttccgacagtattttt	12	7	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:63174356C>T	ENST00000322893.7	-	11	3105	c.2837G>A	c.(2836-2838)aGc>aAc	p.S946N	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	946	CAD (involved in subunit assembly) (By similarity).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGGGGTACGCTTTTTTCCGA	0.473													False	0	True	14:63174356	0	T	63174356	C	T	63174356	3	4	11	1	0	0	0	0	1	0	0	0	8085	797	28	2	133	2	KCNH5	14	63174356	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	4060895	63174356	44175184	83	883											
SLC8A3	6547	broad.mit.edu	37	chr14	70633740	70633740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtcgtcatcaattatgCccacggagaactccttctgg	8	11	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr14:70633740C>T	ENST00000381269.2	-	2	2153	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	SLC8A3_ENST00000534137.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G467D|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G467D|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G467D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	467	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATCAATTATGCCCACGGAGAA	0.517													False	0	True	14:70633740	0	T	70633740	C	T	70633740	3	4	11	1	0	0	0	0	1	0	0	0	14788	739	26	2	1522	2	SLC8A3	14	70633740	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	7459384	70633740	36715800	84	884											
APBA2	321	broad.mit.edu	37	chr15	29346967	29346967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccgaggccaagcaccccGgagacccccagagaggcttc	11	17	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:29346967G>A	ENST00000558402.1	+	5	1479	c.880G>A	c.(880-882)Gga>Aga	p.G294R	APBA2_ENST00000558330.1_Missense_Mutation_p.G294R|APBA2_ENST00000411764.1_Missense_Mutation_p.G294R|APBA2_ENST00000558259.1_Missense_Mutation_p.G294R|APBA2_ENST00000561069.1_Missense_Mutation_p.G294R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	294					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CAAGCACCCCGGAGACCCCCA	0.662													False	0	True	15:29346967	0	A	29346967	G	A	29346967	3	1	11	1	0	0	0	0	1	0	0	0	759	1117	39	1	882	1	APBA2	15	29346967	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		29346967	73184425	85	885											
TMEM87A	25963	broad.mit.edu	37	chr15	42503943	42503943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcaaagtgtgtgatcattCgttcctagggaaaaaaaaaa	8	5	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:42503943C>T	ENST00000389834.4	-	20	1895	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q	TMEM87A_ENST00000448392.1_Missense_Mutation_p.R483Q|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	544						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TGTGATCATTCGTTCCTAGGG	0.368													False	0	False	15:42503943	0	T	42503943	C	T	42503943	3	4	11	1	0	0	0	0	1	0	0	0	16292	884	31	1	40	1	TMEM87A	15	42503943	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	13156976	42503943	60027449	86	886											
VPS13C	54832	broad.mit.edu	37	chr15	62283987	62283987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactttttccttaatttttgCccagaccgaatcacctgaaa	5	11	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:62283987C>T	ENST00000261517.5	-	17	1441	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000395896.4_Silent_p.G456G|VPS13C_ENST00000249837.3_Silent_p.G413G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	456					protein localization			p.G456G(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAATTTTTGCCCAGACCGAA	0.383													False	0	True	15:62283987	0	T	62283987	C	T	62283987	2	4	11	1	0	0	0	0	0	0	0	1	17275	726	26	2		2	VPS13C	15	62283987	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	19780044	62283987	40247405	87	887											
PPCDC	60490	broad.mit.edu	37	chr15	75340906	75340906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacagacctgcgtcatgCgggcctgggaccgcagcaag	13	14	2	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr15:75340906C>T	ENST00000342932.3	+	5	517	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	PPCDC_ENST00000564923.1_Missense_Mutation_p.R50W|PPCDC_ENST00000563393.1_Missense_Mutation_p.R2W|PPCDC_ENST00000568649.1_Missense_Mutation_p.R82W|PPCDC_ENST00000567336.1_Missense_Mutation_p.R93W	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	125					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity			breast(1)|cervix(1)	2						CTGCGTCATGCGGGCCTGGGA	0.662													False	0	True	15:75340906	0	T	75340906	C	T	75340906	3	4	11	1	0	0	0	0	1	0	0	0	12373	759	27	1	387	1	PPCDC	15	75340906	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	13056919	75340906	27190486	88	888											
ZNF646	9726	broad.mit.edu	37	chr16	31091179	31091179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaggagaccactgtgaaGggggaggagatagagcccag	19	6	0	4			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:31091179G>A	ENST00000394979.2	+	1	3957	c.3534G>A	c.(3532-3534)aaG>aaA	p.K1178K	ZNF646_ENST00000300850.5_Silent_p.K1178K			O15015	ZN646_HUMAN	zinc finger protein 646	1178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCACTGTGAAGGGGGAGGAGA	0.602													False	0	True	16:31091179	0	A	31091179	G	A	31091179	2	1	11	1	0	0	0	0	0	0	0	1	18145	991	35	2		2	ZNF646	16	31091179	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		31091179	59263574	89	889											
GFOD2	81577	broad.mit.edu	37	chr16	67709902	67709902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcgaggctgtcaccatcCggaaggcatccaccgatgtt	12	13	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr16:67709902C>T	ENST00000268797.7	-	3	659	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	105						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGTCACCATCCGGAAGGCATC	0.537													False	0	False	16:67709902	0	T	67709902	C	T	67709902	3	4	11	1	0	0	0	0	1	0	0	0	6389	652	23	1	847	1	GFOD2	16	67709902	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	36618723	67709902	22644851	90	890											
TP53	7157	broad.mit.edu	37	chr17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcacctcaaagctgttccgtCccagtagattaccactactc	6	15	1	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:7577141C>A	ENST00000420246.2	-	8	929	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000269305.4_Missense_Mutation_p.G266V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCTGTTCCGTCCCAGTAGATT	0.517		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)			False	0	True	17:7577141	0	A	7577141	C	A	7577141	3	1	11	1	0	0	0	0	1	0	0	0	16464	855	30	3	489	3	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08		7577141	73618069	91	891											
CDK12	51755	broad.mit.edu	37	chr17	37627224	37627224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatccagttcacgcagtcGtcattccagtatctcacctg	8	13	3	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:37627224G>A	ENST00000447079.4	+	2	1172	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	CDK12_ENST00000430627.2_Missense_Mutation_p.R380H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	380					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCACGCAGTCGTCATTCCAGT	0.443			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			False	0	False	17:37627224	0	A	37627224	G	A	37627224	3	1	11	1	0	0	0	0	1	0	0	0	3151	1145	40	1	1145	1	CDK12	17	37627224	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	30050083	37627224	43567986	92	892											
KRTAP4-5	85289	broad.mit.edu	37	chr17	39305731	39305732	+	In_Frame_Ins	INS	-	-	GCAGCAGGTGGTCCT													gacacacagcagctggggcaINSgcagcaggtggtcctgcagc					rs34709169		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:39305731_39305732insGCAGCAGGTGGTCCT	ENST00000343246.4	-	1	322_323	c.288_289insAGGACCACCTGCTGC	c.(286-291)tgctgc>tgcAGGACCACCTGCTGCtgc	p.95_96insCRTTC		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	100	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			cagctggggcagcagcaggtgg	0.663													False	0	True	17:39305731	0	GCAGCAGGTGGTCCT	39305732	-	GCAGCAGGTGGTCCT	39305731	7	5	11	1	0	1	1	0	0	0	0	0	8605	188	7	0	260	0	KRTAP4-5	17	39305731	In_Frame_Ins	INS	-	TCGA-2J-AABO-01A-21D-A40W-08	1678507	39305731	41889479	93	893											
GPATCH8	23131	broad.mit.edu	37	chr17	42476539	42476539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacggcttctccgcttgcttCgactacgactacaactgctg	8	14	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:42476539C>T	ENST00000434000.1	-	9	2954	c.2672G>A	c.(2671-2673)cGa>cAa	p.R891Q	GPATCH8_ENST00000591680.1_Missense_Mutation_p.R969Q			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	969	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCGCTTGCTTCGACTACGACT	0.642													False	0	True	17:42476539	0	T	42476539	C	T	42476539	3	4	11	1	0	0	0	0	1	0	0	0	6640	884	31	1	1606	1	GPATCH8	17	42476539	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	3170808	42476539	38718671	94	894											
MAP3K14	9020	broad.mit.edu	37	chr17	43345029	43345029	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccttggcgaaagctctctCggctgggcatggagggtctg	16	11	2	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:43345029C>T	ENST00000344686.2	-	0	2175				MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAAGCTCTCTCGGCTGGGCAT	0.607													False	0	True	17:43345029	0	T	43345029	C	T	43345029	1	4	11	0	1	0	0	0	0	0	0	0	9315	871	31	1		1	MAP3K14	17	43345029	RNA	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	868490	43345029	37850181	95	895											
TEX14	56155	broad.mit.edu	37	chr17	56663333	56663333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggggggctgcagcagggCgtcgggctcattttcagcct	16	10	2	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:56663333C>T	ENST00000389934.3	-	18	3016	c.2899G>A	c.(2899-2901)Gcc>Acc	p.A967T	TEX14_ENST00000240361.8_Missense_Mutation_p.A973T|TEX14_ENST00000349033.5_Missense_Mutation_p.A967T	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	973						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCAGCAGGGCGTCGGGCTCA	0.507													False	0	True	17:56663333	0	T	56663333	C	T	56663333	3	4	11	1	0	0	0	0	1	0	0	0	15860	768	27	1	1640	1	TEX14	17	56663333	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	13318304	56663333	24531877	96	896											
UNC13D	201294	broad.mit.edu	37	chr17	73836181	73836181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggctgcgagcggctggccGaagtggctctctgcaatgag	16	11	1	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr17:73836181G>A	ENST00000207549.4	-	11	1248	c.869C>T	c.(868-870)tCg>tTg	p.S290L	UNC13D_ENST00000412096.2_Missense_Mutation_p.S290L|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	290	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGGCTGGCCGAAGTGGCTCT	0.667									Familial Hemophagocytic Lymphohistiocytosis				False	0	False	17:73836181	0	A	73836181	G	A	73836181	3	1	11	1	0	0	0	0	1	0	0	0	17071	1059	37	1	2491	1	UNC13D	17	73836181	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	17172848	73836181	7359029	97	897											
LAMA1	284217	broad.mit.edu	37	chr18	7032156	7032156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagtattccatccacgcggTaatagccagagaggcacgac	11	11	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:7032156T>C	ENST00000389658.3	-	16	2276	c.2183A>G	c.(2182-2184)tAc>tGc	p.Y728C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	728	Laminin EGF-like 5; second part.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCCACGCGGTAATAGCCAGA	0.478													False	0	False	18:7032156	0	C	7032156	T	C	7032156	3	2	11	1	0	0	0	0	1	0	0	0	8656	1638	57	4	7236	4	LAMA1	18	7032156	Missense_Mutation	SNP	T	TCGA-2J-AABO-01A-21D-A40W-08		7032156	71045092	98	898											
DSEL	92126	broad.mit.edu	37	chr18	65178609	65178609	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctcaatggttcatactcGaaagcataacccgaatttaa	5	10	2	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr18:65178609G>A	ENST00000310045.7	-	2	4740	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1079						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTCATACTCGAAAGCATAAC	0.368													False	0	True	18:65178609	0	A	65178609	G	A	65178609	2	1	11	1	0	0	0	0	0	0	0	1	4805	1049	37	1		1	DSEL	18	65178609	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	58146453	65178609	12898639	99	899											
ATP8B3	148229	broad.mit.edu	37	chr19	1791840	1791840	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtcctggagtctgtcctcGatggctgtggctcccagcag	13	14	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:1791840G>A	ENST00000539485.1	-	20	2474	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	ATP8B3_ENST00000525591.1_Silent_p.I700I|ATP8B3_ENST00000310127.6_Silent_p.I737I			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	737					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTGTCCTCGATGGCTGTGG	0.627													False	0	False	19:1791840	0	A	1791840	G	A	1791840	2	1	11	1	0	0	0	0	0	0	0	1	1200	1048	37	1		1	ATP8B3	19	1791840	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		1791840	57337143	100	900											
RAX2	84839	broad.mit.edu	37	chr19	3771573	3771573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggctgccagctcctcacgGctgtacacatccgggtagtg	12	13	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:3771573G>T	ENST00000555633.1	-	2	508	c.168C>A	c.(166-168)agC>agA	p.S56R	RAX2_ENST00000555978.1_Missense_Mutation_p.S56R			Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	56					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCTCACGGCTGTACACAT	0.627													False	0	False	19:3771573	0	T	3771573	G	T	3771573	3	4	11	1	0	0	0	0	1	0	0	0	13176	1194	42	3	394	3	RAX2	19	3771573	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	1979733	3771573	55357410	101	901											
PLIN4	729359	broad.mit.edu	37	chr19	4511956	4511956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggccacattcacagcactGgtcaccccactgccaaaggt	8	15	2	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:4511956G>A	ENST00000301286.3	-	3	1973	c.1974C>T	c.(1972-1974)acC>acT	p.T658T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	658	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCACAGCACTGGTCACCCCAC	0.582													False	0	False	19:4511956	0	A	4511956	G	A	4511956	2	1	11	1	0	0	0	0	0	0	0	1	12161	1335	47	2		2	PLIN4	19	4511956	Silent	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	740383	4511956	54617027	102	902											
SAFB	6294	broad.mit.edu	37	chr19	5654163	5654163	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagaaaagagtaaggaccaaGatgatcagaaacctggcccc	11	9	1	5	rs11542075		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:5654163G>A	ENST00000292123.5	+	12	1725	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	SAFB_ENST00000588852.1_Missense_Mutation_p.D540N|SAFB_ENST00000538656.1_Missense_Mutation_p.D383N|SAFB_ENST00000454510.1_Missense_Mutation_p.D471N|SAFB_ENST00000433404.1_Missense_Mutation_p.D370N|SAFB_ENST00000592224.1_Missense_Mutation_p.D540N	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	540	Interaction with POLR2A.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TAAGGACCAAGATGATCAGAA	0.463													False	0	False	19:5654163	0	A	5654163	G	A	5654163	3	1	11	1	0	0	0	0	1	0	0	0	13885	942	33	2	1664	2	SAFB	19	5654163	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	1142207	5654163	53474820	103	903											
OR7D2	162998	broad.mit.edu	37	chr19	9296718	9296718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctggtgaacatccagacCgagaacaaagccatctccta	8	12	1	3	rs139213903		TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:9296718C>T	ENST00000344248.2	+	1	440	c.261C>T	c.(259-261)acC>acT	p.T87T		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	87					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ACATCCAGACCGAGAACAAAG	0.507													False	0	False	19:9296718	0	T	9296718	C	T	9296718	2	4	11	1	0	0	0	0	0	0	0	1	11287	639	23	1		1	OR7D2	19	9296718	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	3642555	9296718	49832265	104	904											
SLC8A2	6543	broad.mit.edu	37	chr19	47969356	47969356	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtgatctccttctcttttGacgtgatgacctcgatggcc	10	11	2	4			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:47969356G>A	ENST00000236877.6	-	2	700	c.305C>T	c.(304-306)tCa>tTa	p.S102L	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	102					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTTCTCTTTTGACGTGATGAC	0.577													False	0	True	19:47969356	0	A	47969356	G	A	47969356	3	1	11	1	0	0	0	0	1	0	0	0	14787	1294	45	2	2496	2	SLC8A2	19	47969356	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	38672638	47969356	11159627	105	905											
ZNF835	90485	broad.mit.edu	37	chr19	57175926	57175926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctcgcccgtgtgcacgCgccggtgctgggtcaggtgc	17	15	1	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:57175926C>T	ENST00000537055.2	-	2	872	c.641G>A	c.(640-642)cGc>cAc	p.R214H		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGTGTGCACGCGCCGGTGCTG	0.721													False	0	False	19:57175926	0	T	57175926	C	T	57175926	3	4	11	1	0	0	0	0	1	0	0	0	18268	768	27	1	974	1	ZNF835	19	57175926	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	9206570	57175926	1953057	106	906											
ZNF256	10172	broad.mit.edu	37	chr19	58453978	58453978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgtggagaagtgctctgCtgataaggtgcctcctcatc	12	11	2	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr19:58453978C>T	ENST00000598928.1	-	2	271	c.71G>A	c.(70-72)aGc>aAc	p.S24N	ZNF256_ENST00000282308.3_Silent_p.Q66Q			Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	396	KRAB.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AAGTGCTCTGCTGATAAGGTG	0.532													False	0	False	19:58453978	0	T	58453978	C	T	58453978	3	4	11	1	0	0	0	0	1	0	0	0	17882	796	28	2	1689	2	ZNF256	19	58453978	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	1278052	58453978	675005	107	907											
SIGLEC1	6614	broad.mit.edu	37	chr20	3674202	3674202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacgttgggcagggggaTggagtgggcatccaggcgct	20	7	0	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:3674202T>C	ENST00000344754.4	-	13	3399	c.3400A>G	c.(3400-3402)Atc>Gtc	p.I1134V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.I1134V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1134	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGGGGGATGGAGTGGGCA	0.657													False	0	False	20:3674202	0	C	3674202	T	C	3674202	3	2	11	1	0	0	0	0	1	0	0	0	14386	1464	51	4	1765	4	SIGLEC1	20	3674202	Missense_Mutation	SNP	T	TCGA-2J-AABO-01A-21D-A40W-08		3674202	59351318	108	908											
RALGAPA2	57186	broad.mit.edu	37	chr20	20563724	20563724	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcatcggtgggactcaGttgtaaccaatgacgggcat	13	8	1	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:20563724G>T	ENST00000202677.7	-	20	2684	c.2677C>A	c.(2677-2679)Ctg>Atg	p.L893M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTGGGACTCAGTTGTAACCAA	0.468													False	0	False	20:20563724	0	T	20563724	G	T	20563724	3	4	11	1	0	0	0	0	1	0	0	0	13093	1020	36	3	3024	3	RALGAPA2	20	20563724	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	16889522	20563724	42461796	109	909											
RIMS4	140730	broad.mit.edu	37	chr20	43384834	43384834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaactgggatgcctgccGgagcagggggcctgtggctg	19	10	0	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:43384834G>A	ENST00000372851.3	-	6	817	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	RIMS4_ENST00000541604.2_Missense_Mutation_p.R252W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	251					exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GATGCCTGCCGGAGCAGGGGG	0.662													False	0	True	20:43384834	0	A	43384834	G	A	43384834	3	1	11	1	0	0	0	0	1	0	0	0	13449	1115	39	1	62	1	RIMS4	20	43384834	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	22821110	43384834	19640686	110	910											
TAF4	6874	broad.mit.edu	37	chr20	60587922	60587923	+	Frame_Shift_Ins	INS	-	-	GCCT													tgggctgcaccgttgtctggINSgcctgagacacttgcttaat							TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr20:60587922_60587923insGCCT	ENST00000252996.3	-	3	1588_1589	c.1589_1590insAGGC	c.(1588-1590)gccfs	p.-530fs		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CCGTTGTCTGGGCCTGAGACAC	0.589													False	1	True	20:60587922	0	GCCT	60587923	-	GCCT	60587922	7	5	11	1	0	1	1	0	0	0	0	0	15608	1219	43	0	1719	0	TAF4	20	60587922	Frame_Shift_Ins	INS	-	TCGA-2J-AABO-01A-21D-A40W-08	17203088	60587922	2437598	111	911											
DSCR4	10281	broad.mit.edu	37	chr21	39492431	39492431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggcaagtccagaatccGtaggagaagctggcaggctg	16	9	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:39492431G>A	ENST00000328264.3	-	2	304	c.200C>T	c.(199-201)aCg>aTg	p.T67M	DSCR4_ENST00000398948.1_Missense_Mutation_p.T67M	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	67										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						tccagaatccgtaggagaagc	0.363													False	0	False	21:39492431	0	A	39492431	G	A	39492431	3	1	11	1	0	0	0	0	1	0	0	0	4802	1145	40	1	164	1	DSCR4	21	39492431	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		39492431	8637464	112	912											
DSCAM	1826	broad.mit.edu	37	chr21	41447025	41447025	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaccagcaggagcacaaaCagcagcaagacccccaccag	8	16	0	1			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr21:41447025C>A	ENST00000400454.1	-	27	5304	c.4827G>T	c.(4825-4827)ctG>ctT	p.L1609L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1609					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGCACAAACAGCAGCAAGA	0.592													False	0	True	21:41447025	0	A	41447025	C	A	41447025	2	1	11	1	0	0	0	0	0	0	0	1	4798	465	17	3		3	DSCAM	21	41447025	Silent	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	1954594	41447025	6682870	113	913											
MYO18B	84700	broad.mit.edu	37	chr22	26165019	26165019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaagcaggtgagcttcGgagcacgactgggaaggcag	18	7	0	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:26165019G>A	ENST00000335473.7	+	4	1386	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	MYO18B_ENST00000536101.1_Missense_Mutation_p.R379Q|MYO18B_ENST00000407587.2_Missense_Mutation_p.R379Q	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	379			R -> Q (in a lung small cell carcinoma sample; somatic mutation).			nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGTGAGCTTCGGAGCACGACT	0.577													False	0	False	22:26165019	0	A	26165019	G	A	26165019	3	1	11	1	0	0	0	0	1	0	0	0	10133	1116	39	1	1146	1	MYO18B	22	26165019	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		26165019	25139547	114	914											
APOL5	80831	broad.mit.edu	37	chr22	36122258	36122258	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattgcctagatgtctttagCctcactcgtgaacctgtgcc	9	12	2	2			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:36122258C>T	ENST00000249044.2	+	3	143	c.143C>T	c.(142-144)cCc>cTc	p.P48L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	48					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						ATGTCTTTAGCCTCACTCGTG	0.443													False	0	False	22:36122258	0	T	36122258	C	T	36122258	5	4	11	1	0	0	0	0	0	0	1	0	811	753	26	2	153	2	APOL5	22	36122258	Splice_Site	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	9957239	36122258	15182308	115	915											
MYH9	4627	broad.mit.edu	37	chr22	36681954	36681954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtcagccagctcatcccGctcctgctgggcctggcgct	11	18	2	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:36681954G>A	ENST00000216181.5	-	36	5337	c.5107C>T	c.(5107-5109)Cgg>Tgg	p.R1703W	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1703					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCTCATCCCGCTCCTGCTGG	0.652			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				False	0	True	22:36681954	0	A	36681954	G	A	36681954	3	1	11	1	0	0	0	0	1	0	0	0	10109	1086	38	1	799	1	MYH9	22	36681954	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	559696	36681954	14622612	116	916											
EP300	2033	broad.mit.edu	37	chr22	41542773	41542773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgacccaagtatgatccGtggcagtgtgccaaaccaga	10	12	0	3			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chr22:41542773G>A	ENST00000263253.7	+	11	3303	c.2084G>A	c.(2083-2085)cGt>cAt	p.R695H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	695					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGTATGATCCGTGGCAGTGTG	0.393			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				False	0	False	22:41542773	0	A	41542773	G	A	41542773	3	1	11	1	0	0	0	0	1	0	0	0	5180	1145	40	1	2126	1	EP300	22	41542773	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	4860819	41542773	9761793	117	917											
TLR8	51311	broad.mit.edu	37	chrX	12939864	12939864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtgataaatgagctgcGctaccaccttgaagagagcc	12	10	0	4			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:12939864G>A	ENST00000218032.6	+	2	2792	c.2705G>A	c.(2704-2706)cGc>cAc	p.R902H	TLR8_ENST00000311912.5_Missense_Mutation_p.R920H	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	902	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AATGAGCTGCGCTACCACCTT	0.478													False	0	False	X:12939864	0	A	12939864	G	A	12939864	3	1	11	1	0	0	0	0	1	0	0	0	16039	1087	38	1	2711	1	TLR8	23	12939864	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08		12939864	142330696	118	918											
MAGEB2	4113	broad.mit.edu	37	chrX	30236753	30236753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagaaacgccgcaaggcccGagatgagacccggggtctca	14	12	1	3			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:30236753G>A	ENST00000378988.4	+	2	157	c.56G>A	c.(55-57)cGa>cAa	p.R19Q		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	19							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CGCAAGGCCCGAGATGAGACC	0.552													False	0	True	X:30236753	0	A	30236753	G	A	30236753	3	1	11	1	0	0	0	0	1	0	0	0	9243	1058	37	1	58	1	MAGEB2	23	30236753	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	17296889	30236753	125033807	119	919											
PCDH11X	27328	broad.mit.edu	37	chrX	91090535	91090535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgggacgtacattttcgCggtcctgctagcatgcgtgg	14	11	0	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:91090535C>T	ENST00000373094.1	+	1	877	c.32C>T	c.(31-33)gCg>gTg	p.A11V	PCDH11X_ENST00000373088.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A11V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A11V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	11					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACATTTTCGCGGTCCTGCTA	0.493													False	0	False	X:91090535	0	T	91090535	C	T	91090535	3	4	11	1	0	0	0	0	1	0	0	0	11576	768	27	1	34	1	PCDH11X	23	91090535	Missense_Mutation	SNP	C	TCGA-2J-AABO-01A-21D-A40W-08	60853782	91090535	64180025	120	920											
MAP7D3	79649	broad.mit.edu	37	chrX	135314079	135314079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catatgtgctcaccacaggcGacacgtccacgctcaccaca	7	17	2	0			TCGA-2J-AABO-01A-21D-A40W-08	TCGA-2J-AABO-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	16470dac-103c-4ecc-8407-af967f95b1a8	f915639e-4fa7-4f9e-a5ab-73747b07fae2	g.chrX:135314079G>A	ENST00000316077.9	-	8	1257	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	MAP7D3_ENST00000370663.5_Missense_Mutation_p.S328L|MAP7D3_ENST00000370661.1_Missense_Mutation_p.S311L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	346						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACCACAGGCGACACGTCCAC	0.572													False	0	False	X:135314079	0	A	135314079	G	A	135314079	3	1	11	1	0	0	0	0	1	0	0	0	9336	1059	37	1	1637	1	MAP7D3	23	135314079	Missense_Mutation	SNP	G	TCGA-2J-AABO-01A-21D-A40W-08	44223544	135314079	19956481	121	921											
HIVEP3	59269	broad.mit.edu	37	chr1	42046110	42046110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatctgccttggaagcctcCtcctccttcactcttttttg	5	15	4	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:42046110C>T	ENST00000372584.1	-	3	5373	c.4359G>A	c.(4357-4359)gaG>gaA	p.E1453E	HIVEP3_ENST00000247584.5_Silent_p.E1453E|HIVEP3_ENST00000372583.1_Silent_p.E1453E|HIVEP3_ENST00000429157.2_Silent_p.E1453E	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1453					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGAAGCCTCCTCCTCCTTCA	0.512													False	0	True	1:42046110	0	T	42046110	C	T	42046110	2	4	12	1	0	0	0	0	0	0	0	1	7235	680	24	2		2	HIVEP3	1	42046110	Silent	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08		42046110	207204511	1	922											
ZSWIM5	57643	broad.mit.edu	37	chr1	45484833	45484833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acactgtagagccagtgtgcGagcacagctagccagttcct	11	12	0	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:45484833G>A	ENST00000359600.5	-	14	3056	c.2851C>T	c.(2851-2853)Cgc>Tgc	p.R951C		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	951							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCCAGTGTGCGAGCACAGCTA	0.542											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:45484833	0	A	45484833	G	A	45484833	3	1	12	1	0	0	0	0	1	0	0	0	18326	1058	37	1	710	1	ZSWIM5	1	45484833	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	3438723	45484833	203765788	2	923											
AKR1A1	10327	broad.mit.edu	37	chr1	46032622	46032622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgtggagcctgccctcCggaagactctggctgacctc	13	13	1	2			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:46032622C>T	ENST00000372070.3	+	5	1033	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	AKR1A1_ENST00000471651.1_Missense_Mutation_p.R96W|AKR1A1_ENST00000351829.4_Missense_Mutation_p.R96W	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	96					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GCCTGCCCTCCGGAAGACTCT	0.607													False	0	False	1:46032622	0	T	46032622	C	T	46032622	3	4	12	1	0	0	0	0	1	0	0	0	465	643	23	1	296	1	AKR1A1	1	46032622	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	547789	46032622	203217999	3	924											
ASB17	127247	broad.mit.edu	37	chr1	76397669	76397669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaggattaccttttctgGcaaaaacccagtacagaatt	7	9	2	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:76397669G>A	ENST00000284142.6	-	1	447	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	103					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ACCTTTTCTGGCAAAAACCCA	0.363													False	0	False	1:76397669	0	A	76397669	G	A	76397669	3	1	12	1	0	0	0	0	1	0	0	0	1025	1203	42	2	591	2	ASB17	1	76397669	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	30365047	76397669	172852952	4	925											
TPR	7175	broad.mit.edu	37	chr1	186328936	186328936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaatggaaccaaccttcaTagcttgttcaagcttaacag	8	9	2	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:186328936T>C	ENST00000367478.4	-	12	1680	c.1384A>G	c.(1384-1386)Atg>Gtg	p.M462V	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCAACCTTCATAGCTTGTTCA	0.368			T	NTRK1	papillary thyroid								False	0	False	1:186328936	0	C	186328936	T	C	186328936	3	2	12	1	0	0	0	0	1	0	0	0	16499	1406	49	4	5867	4	TPR	1	186328936	Missense_Mutation	SNP	T	TCGA-2J-AABR-01A-11D-A40W-08	109931267	186328936	62921685	5	926											
NLRP3	114548	broad.mit.edu	37	chr1	247597507	247597507	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacctgagtgacaacgccctCggtgacttcggaatcagact	11	12	1	4	rs147154764		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr1:247597507C>T	ENST00000366497.2	+	6	3210	c.2430C>T	c.(2428-2430)ctC>ctT	p.L810L	NLRP3_ENST00000391828.3_Silent_p.L810L|NLRP3_ENST00000391827.2_Silent_p.L753L|NLRP3_ENST00000366496.2_Silent_p.L810L|NLRP3_ENST00000348069.2_Silent_p.L753L|NLRP3_ENST00000336119.3_Silent_p.L810L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	867					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAACGCCCTCGGTGACTTCG	0.567													False	0	False	1:247597507	0	T	247597507	C	T	247597507	2	4	12	1	0	0	0	0	0	0	0	1	10546	871	31	1		1	NLRP3	1	247597507	Silent	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	61268571	247597507	1653114	6	927											
TEKT4	150483	broad.mit.edu	37	chr2	95539829	95539830	+	Frame_Shift_Ins	INS	-	-	G													accgaggtgcaggctcatccINSgtactccaccaccttccaag					rs149873671		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:95539829_95539830insG	ENST00000295201.4	+	3	826_827	c.689_690insG	c.(688-693)ccgtacfs	p.Y231fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663													False	1	False	2:95539829	0	G	95539830	-	G	95539829	7	5	12	1	0	1	1	0	0	0	0	0	15837	652	23	0	699	0	TEKT4	2	95539829	Frame_Shift_Ins	INS	-	TCGA-2J-AABR-01A-11D-A40W-08		95539829	147659544	7	928											
IL18RAP	8807	broad.mit.edu	37	chr2	103063588	103063588	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctggtggccgtgctggcggcGagtgccctcctctacaggca	15	14	1	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:103063588G>C	ENST00000264260.2	+	10	1720	c.1131G>C	c.(1129-1131)gcG>gcC	p.A377A	IL18RAP_ENST00000409369.1_Silent_p.A235A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	377					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGCTGGCGGCGAGTGCCCTCC	0.582													False	0	False	2:103063588	0	C	103063588	G	C	103063588	2	2	12	1	0	0	0	0	0	0	0	1	7698	1045	37	5		5	IL18RAP	2	103063588	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	7523759	103063588	140135785	8	929											
NEB	4703	broad.mit.edu	37	chr2	152552104	152552104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacttacatcactcaagttAtaggcattgactttgtgctg	8	8	2	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:152552104A>G	ENST00000397345.3	-	18	1864	c.1662T>C	c.(1660-1662)taT>taC	p.Y554Y	NEB_ENST00000603639.1_Silent_p.Y554Y|NEB_ENST00000409198.1_Silent_p.Y554Y|NEB_ENST00000427231.2_Silent_p.Y554Y|NEB_ENST00000172853.10_Silent_p.Y554Y|NEB_ENST00000604864.1_Silent_p.Y554Y	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	554					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACTCAAGTTATAGGCATTGA	0.373													False	0	False	2:152552104	0	G	152552104	A	G	152552104	2	3	12	1	0	0	0	0	0	0	0	1	10370	456	16	4		4	NEB	2	152552104	Silent	SNP	A	TCGA-2J-AABR-01A-11D-A40W-08	49488516	152552104	90647269	9	930											
IRS1	3667	broad.mit.edu	37	chr2	227660111	227660111	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccaaagggcactgtgTtgcccacccgggtggcactg	13	15	0	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:227660111T>C	ENST00000305123.5	-	1	4364	c.3344A>G	c.(3343-3345)aAc>aGc	p.N1115S		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGCACTGTGTTGCCCACCCG	0.617													False	0	False	2:227660111	0	C	227660111	T	C	227660111	3	2	12	1	0	0	0	0	1	0	0	0	7890	1725	60	4	388	4	IRS1	2	227660111	Missense_Mutation	SNP	T	TCGA-2J-AABR-01A-11D-A40W-08	75108007	227660111	15539262	10	931											
PER2	8864	broad.mit.edu	37	chr2	239185809	239185809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggttgtgttcagattttgCcatcatcaggctaaaggtat	11	6	3	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr2:239185809C>T	ENST00000254657.3	-	3	535	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PER2_ENST00000440245.1_Missense_Mutation_p.A86T|PER2_ENST00000254658.3_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	86					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.A86T(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCAGATTTTGCCATCATCAGG	0.383													False	0	False	2:239185809	0	T	239185809	C	T	239185809	3	4	12	1	0	0	0	0	1	0	0	0	11798	739	26	2	3595	2	PER2	2	239185809	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	11525698	239185809	4013564	11	932											
CRIPAK	285464	broad.mit.edu	37	chr4	1389313	1389313	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcacacacatgccgatgTggagtgcccgcctgctcaca	10	15	2	0	rs71299249		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:1389313T>C	ENST00000324803.4	+	1	3974	c.1014T>C	c.(1012-1014)tgT>tgC	p.C338C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	338					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CATGCCGATGTGGAGTGCCCG	0.662													False	0	False	4:1389313	0	C	1389313	T	C	1389313	2	2	12	1	0	0	0	0	0	0	0	1	3900	1702	59	4		4	CRIPAK	4	1389313	Silent	SNP	T	TCGA-2J-AABR-01A-11D-A40W-08		1389313	189764963	12	933											
ARAP2	116984	broad.mit.edu	37	chr4	36189102	36189102	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctactctaaaaacaaaagttCtttgtgttgtaacaacttca	4	8	3	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:36189102C>A	ENST00000303965.4	-	8	2138	c.1649G>T	c.(1648-1650)aGa>aTa	p.R550I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	550	PH 1.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AACAAAAGTTCTTTGTGTTGT	0.299													False	0	True	4:36189102	0	A	36189102	C	A	36189102	3	1	12	1	0	0	0	0	1	0	0	0	841	913	32	3	3569	3	ARAP2	4	36189102	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	34799789	36189102	154965174	13	934											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	12	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-2J-AABR-01A-11D-A40W-08	4245603	40434705	150719571	14	935											
TSPAN5	10098	broad.mit.edu	37	chr4	99407920	99407920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagtgttttcccgtagcGctccaatgcaccctgcaaat	9	12	0	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:99407920G>A	ENST00000305798.3	-	3	650	c.248C>T	c.(247-249)gCg>gTg	p.A83V	TSPAN5_ENST00000505184.1_Missense_Mutation_p.A12V|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	83						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TTCCCGTAGCGCTCCAATGCA	0.478													False	0	False	4:99407920	0	A	99407920	G	A	99407920	3	1	12	1	0	0	0	0	1	0	0	0	16733	1087	38	1	582	1	TSPAN5	4	99407920	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	58973215	99407920	91746356	15	936											
TACR3	6870	broad.mit.edu	37	chr4	104577461	104577469	+	In_Frame_Del	DEL	ATGGGAAAC	ATGGGAAAC	-													tgtaatacccatgatgagcaAtgggaaacagtacaccagta							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	ATGGGAAAC	ATGGGAAAC	-	-	ATGGGAAAC	ATGGGAAAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr4:104577461_104577469delATGGGAAAC	ENST00000304883.2	-	3	910_918	c.770_778delGTTTCCCAT	c.(769-780)tgtttcccattg>ttg	p.CFP257del		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	257						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATGATGAGCAATGGGAAACAGTACACCAG	0.392													False	1	True	4:104577461	0	-	104577469	ATGGGAAAC	-	104577461	7	5	12	1	0	1	0	1	0	0	0	0	15589	98	4	0	631	0	TACR3	4	104577461	In_Frame_Del	DEL	ATGGGAAAC	TCGA-2J-AABR-01A-11D-A40W-08	5169541	104577461	86576815	16	937											
NUP155	9631	broad.mit.edu	37	chr5	37370977	37370977	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgggtacatgcggtcctcttGcaactgacggtcgatgagcc	13	12	1	2			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr5:37370977G>C	ENST00000231498.3	-	1	306	c.103C>G	c.(103-105)Caa>Gaa	p.Q35E	NUP155_ENST00000513532.1_Missense_Mutation_p.Q35E	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	35					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGGTCCTCTTGCAACTGACGG	0.582													False	0	False	5:37370977	0	C	37370977	G	C	37370977	3	2	12	1	0	0	0	0	1	0	0	0	10824	1328	46	5	4212	5	NUP155	5	37370977	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		37370977	143544283	17	938											
CHSY3	337876	broad.mit.edu	37	chr5	129519959	129519959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaattatgaacacaatcGgaagggttacatccaagacc	8	8	0	3			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr5:129519959G>A	ENST00000305031.4	+	3	1482	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	375						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GAACACAATCGGAAGGGTTAC	0.343													False	0	False	5:129519959	0	A	129519959	G	A	129519959	3	1	12	1	0	0	0	0	1	0	0	0	3436	1116	39	1	1134	1	CHSY3	5	129519959	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	92148982	129519959	51395301	18	939											
FAT2	2196	broad.mit.edu	37	chr5	150911532	150911532	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccacctgggcattggcgcCtggcagggagaccaagggtg	16	11	0	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr5:150911532C>T	ENST00000261800.5	-	13	9440		c.e13-1			NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2						epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATTGGCGCCTGGCAGGGAG	0.652													False	0	False	5:150911532	0	T	150911532	C	T	150911532	5	4	12	1	0	0	0	0	0	0	1	0	5730	695	24	2	3666	2	FAT2	5	150911532	Splice_Site	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	21391573	150911532	30003728	19	940											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	12	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-2J-AABR-01A-11D-A40W-08		7393450	163721617	20	941											
BVES	11149	broad.mit.edu	37	chr6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcataagtttggcccTttttcaaggtttggatcatg	10	8	2	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	p.K157R(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGTTTGGCCCTTTTTCAAGGT	0.438													False	0	True	6:105573335	0	C	105573335	T	C	105573335	3	2	12	1	0	0	0	0	1	0	0	0	1582	1609	56	4	632	4	BVES	6	105573335	Missense_Mutation	SNP	T	TCGA-2J-AABR-01A-11D-A40W-08	98179885	105573335	65541732	21	942											
GPR6	0	broad.mit.edu	37	chr6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-													tggtagtggcggccgaaggaGcggcggcggcggccacagca							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.					integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712													False	1	True	6:110300376	0	-	110300435	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	110300376	7	5	12	1	0	1	0	1	0	0	0	0	6747	971	34	0	63	0	GPR6	6	110300376	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	TCGA-2J-AABR-01A-11D-A40W-08	4727041	110300376	60814691	22	943											
TAF6	6878	broad.mit.edu	37	chr7	99707631	99707631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgctcagcacagggccGtccagcacactgcggatccg	12	14	1	0	rs148894017		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr7:99707631G>A	ENST00000344095.4	-	12	1749	c.1224C>T	c.(1222-1224)gaC>gaT	p.D408D	TAF6_ENST00000453269.2_Silent_p.D408D|TAF6_ENST00000452041.1_Silent_p.D408D|TAF6_ENST00000418432.2_Silent_p.D332D|TAF6_ENST00000472509.1_Silent_p.D465D|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000437822.2_Silent_p.D445D	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	408					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACAGGGCCGTCCAGCACAC	0.587													False	0	False	7:99707631	0	A	99707631	G	A	99707631	2	1	12	1	0	0	0	0	0	0	0	1	15612	1136	40	1		1	TAF6	7	99707631	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		99707631	59431032	23	944											
KCNH2	3757	broad.mit.edu	37	chr7	150656780	150656780	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catgatgacagccccatcctCgttcttcacgggcaccacat	7	16	2	2			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr7:150656780C>A	ENST00000392968.2	-	1	1184	c.64G>T	c.(64-66)Gag>Tag	p.E22*	KCNH2_ENST00000430723.3_Nonsense_Mutation_p.E118*|KCNH2_ENST00000262186.5_Nonsense_Mutation_p.E118*			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	118					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCCCCATCCTCGTTCTTCACG	0.597													False	0	False	7:150656780	0	A	150656780	C	A	150656780	4	1	12	1	0	0	0	0	0	1	0	0	8082	893	31	3	3560	3	KCNH2	7	150656780	Nonsense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	50949149	150656780	8481883	24	945											
SPATC1	375686	broad.mit.edu	37	chr8	145094826	145094826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgtcttcctgcccccGtccccagcagtggcaaacga	10	17	1	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr8:145094826G>A	ENST00000377470.3	+	2	330	c.228G>A	c.(226-228)ccG>ccA	p.P76P	SPATC1_ENST00000447830.2_Silent_p.P76P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	76	Necessary for targeting centrosomes (By similarity).									NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTGCCCCCGTCCCCAGCAG	0.632													False	0	True	8:145094826	0	A	145094826	G	A	145094826	2	1	12	1	0	0	0	0	0	0	0	1	15099	1132	40	1		1	SPATC1	8	145094826	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		145094826	1269196	25	946											
RNF20	56254	broad.mit.edu	37	chr9	104324559	104324559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccgtgctgtaacatgcGtaaaaaggatgctgttctta	10	8	1	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr9:104324559G>A	ENST00000389120.3	+	20	2873	c.2783G>A	c.(2782-2784)cGt>cAt	p.R928H		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	928					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGTAACATGCGTAAAAAGGAT	0.418													False	0	False	9:104324559	0	A	104324559	G	A	104324559	3	1	12	1	0	0	0	0	1	0	0	0	13552	1145	40	1	2857	1	RNF20	9	104324559	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		104324559	36888872	26	947											
ANAPC2	29882	broad.mit.edu	37	chr9	140080689	140080689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaccttgtggaactcaCgcaggaaggagcgctcgtac	11	13	2	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr9:140080689C>T	ENST00000323927.2	-	3	864	c.860G>A	c.(859-861)cGt>cAt	p.R287H		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	287					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GTGGAACTCACGCAGGAAGGA	0.642													False	0	False	9:140080689	0	T	140080689	C	T	140080689	3	4	12	1	0	0	0	0	1	0	0	0	603	536	19	1	1652	1	ANAPC2	9	140080689	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	35756130	140080689	1132742	27	948											
PDSS1	23590	broad.mit.edu	37	chr10	27024505	27024505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcctgtttgcctgtcaGcaggtaggttttacaaactc	9	11	1	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr10:27024505G>A	ENST00000376215.5	+	10	1076	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q	PDSS1_ENST00000376203.5_Intron|PDSS1_ENST00000470978.1_3'UTR	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	341					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						TTGCCTGTCAGCAGGTAGGTT	0.498													False	0	False	10:27024505	0	A	27024505	G	A	27024505	2	1	12	1	0	0	0	0	0	0	0	1	11761	962	34	2		2	PDSS1	10	27024505	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		27024505	108510242	28	949											
AGAP6	414189	broad.mit.edu	37	chr10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttgtagaaataagaagaaGcaactgtacaaaccatgtaa	8	5	0	3			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269													False	0	True	10:51754173	0	T	51754173	G	T	51754173	3	4	12	1	0	0	0	0	1	0	0	0	372	971	34	3	394	3	AGAP6	10	51754173	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	24729668	51754173	83780574	29	950											
CNNM2	54805	broad.mit.edu	37	chr10	104678687	104678687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcggcccccagcgatgCggcatccgcacctcagacat	11	17	1	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr10:104678687C>T	ENST00000369878.4	+	1	638	c.450C>T	c.(448-450)tgC>tgT	p.C150C	CNNM2_ENST00000433628.2_Silent_p.C150C|CNNM2_ENST00000369875.3_Silent_p.C150C	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2						ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCCAGCGATGCGGCATCCGCA	0.687													False	0	False	10:104678687	0	T	104678687	C	T	104678687	2	4	12	1	0	0	0	0	0	0	0	1	3636	776	27	1		1	CNNM2	10	104678687	Silent	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	52924514	104678687	30856060	30	951											
BCCIP	56647	broad.mit.edu	37	chr10	127520157	127520157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctccacagatcgctctgCccatgtaccagcagcttcag	7	17	2	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr10:127520157C>T	ENST00000299130.3	+	5	592	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	BCCIP_ENST00000429863.2_Missense_Mutation_p.P164S|BCCIP_ENST00000368759.5_Missense_Mutation_p.P194S|BCCIP_ENST00000278100.6_Missense_Mutation_p.P194S	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	194	Interaction with CDKN1A.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GATCGCTCTGCCCATGTACCA	0.383													False	0	True	10:127520157	0	T	127520157	C	T	127520157	3	4	12	1	0	0	0	0	1	0	0	0	1360	739	26	2	598	2	BCCIP	10	127520157	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	22841470	127520157	8014590	31	952											
DAGLA	747	broad.mit.edu	37	chr11	61511152	61511152	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggcggagctgcaggcccggCgggcaccactggccaccatg	16	16	0	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr11:61511152C>G	ENST00000257215.5	+	20	2436	c.2320C>G	c.(2320-2322)Cgg>Ggg	p.R774G		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	774					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCAGGCCCGGCGGGCACCACT	0.721													False	0	True	11:61511152	0	G	61511152	C	G	61511152	3	3	12	1	0	0	0	0	1	0	0	0	4251	759	27	5	2394	5	DAGLA	11	61511152	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08		61511152	73495364	32	953											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	12	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08		25398284	108453611	33	954											
AVIL	10677	broad.mit.edu	37	chr12	58202276	58202277	+	In_Frame_Ins	INS	-	-	GCTAGATAAAGGGAGAATGGGGCATCAACC													catggccgactcagcaccatINScgttgacggtctccacattg					rs147666040		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr12:58202276_58202277insGCTAGATAAAGGGAGAATGGGGCATCAACC	ENST00000257861.3	-	9	1424_1425	c.994_995insGGTTGATGCCCCATTCTCCCTTTATCTAGC	c.(994-996)gat>gGGTTGATGCCCCATTCTCCCTTTATCTAGCat	p.332_332D>GLMPHSPFI*H	AVIL_ENST00000537081.1_In_Frame_Ins_p.325_325D>GLMPHSPFI*H	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	332	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CTCAGCACCATCGTTGACGGTC	0.53													False	0	False	12:58202276	0	GCTAGATAAAGGGAGAATGGGGCATCAACC	58202277	-	GCTAGATAAAGGGAGAATGGGGCATCAACC	58202276	7	5	12	1	0	1	1	0	0	0	0	0	1231	1435	50	0	1508	0	AVIL	12	58202276	In_Frame_Ins	INS	-	TCGA-2J-AABR-01A-11D-A40W-08	32803992	58202276	75649619	34	955											
EDNRB	1910	broad.mit.edu	37	chr13	78477390	78477390	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaaaacctatggcttcaggGacagccagaaccacagagac	9	12	2	2	rs112618428	byFrequency	TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr13:78477390G>T	ENST00000377211.4	-	4	1124	c.972C>A	c.(970-972)gtC>gtA	p.V324V	EDNRB_ENST00000334286.5_Silent_p.V234V|EDNRB_ENST00000446573.1_Silent_p.V234V	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	234					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TGGCTTCAGGGACAGCCAGAA	0.433													False	0	True	13:78477390	0	T	78477390	G	T	78477390	2	4	12	1	0	0	0	0	0	0	0	1	4950	1161	41	3		3	EDNRB	13	78477390	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		78477390	36692488	35	956											
KLHDC2	23588	broad.mit.edu	37	chr14	50249311	50249311	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaccaaaatctcttgtaCggtaagtaactttgtacttg	6	8	2	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr14:50249311C>T	ENST00000298307.5	+	12	1957	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	KLHDC2_ENST00000554589.1_Intron|KLHDC2_ENST00000557247.1_Intron	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	366						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					ATCTCTTGTACGGTAAGTAAC	0.308													False	0	False	14:50249311	0	T	50249311	C	T	50249311	5	4	12	1	0	0	0	0	0	0	1	0	8406	550	19	1	1142	1	KLHDC2	14	50249311	Splice_Site	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08		50249311	57100229	36	957											
SLC27A2	11001	broad.mit.edu	37	chr15	50519366	50519366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccacgacagagttggagAtacattccggttggtttttc	10	8	0	2			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr15:50519366A>G	ENST00000267842.5	+	7	1680	c.1448A>G	c.(1447-1449)gAt>gGt	p.D483G	SLC27A2_ENST00000380902.4_Missense_Mutation_p.D430G|SLC27A2_ENST00000544960.1_Missense_Mutation_p.D248G	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	483					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGAGTTGGAGATACATTCCGG	0.408													False	0	False	15:50519366	0	G	50519366	A	G	50519366	3	3	12	1	0	0	0	0	1	0	0	0	14606	333	12	4	1474	4	SLC27A2	15	50519366	Missense_Mutation	SNP	A	TCGA-2J-AABR-01A-11D-A40W-08		50519366	52012026	37	958											
SRRM2	23524	broad.mit.edu	37	chr16	2814969	2814969	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctagagggagaagcgaatgTgattcttccccagaaccgaa	11	9	2	4			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr16:2814969T>G	ENST00000301740.8	+	11	4989	c.4440T>G	c.(4438-4440)tgT>tgG	p.C1480W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1480	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAAGCGAATGTGATTCTTCCC	0.532													False	0	False	16:2814969	0	G	2814969	T	G	2814969	3	3	12	1	0	0	0	0	1	0	0	0	15251	1702	59	4	4478	4	SRRM2	16	2814969	Missense_Mutation	SNP	T	TCGA-2J-AABR-01A-11D-A40W-08		2814969	87539784	38	959											
FAM86A	196483	broad.mit.edu	37	chr16	5140142	5140142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgatggaccgtcgcgacgtCccagtccagctgggccactg	13	15	0	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr16:5140142C>T	ENST00000427587.4	-	6	753	c.685G>A	c.(685-687)Gac>Aac	p.D229N	FAM86A_ENST00000458008.4_Missense_Mutation_p.D195N|FAM86A_ENST00000587133.1_Missense_Mutation_p.D168N	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	229										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						GTCGCGACGTCCCAGTCCAGC	0.602													False	0	True	16:5140142	0	T	5140142	C	T	5140142	3	4	12	1	0	0	0	0	1	0	0	0	5683	855	30	2	319	2	FAM86A	16	5140142	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	2325173	5140142	85214611	39	960											
MMP2	0	broad.mit.edu	37	chr16	55519538	55519538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgtgtgaagtatgggaaCgccgatggggagtactgcaa	16	7	0	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr16:55519538C>T	ENST00000219070.4	+	5	1190	c.681C>T	c.(679-681)aaC>aaT	p.N227N	MMP2_ENST00000437642.2_Silent_p.N177N|MMP2_ENST00000570308.1_Silent_p.N151N|MMP2_ENST00000543485.1_Silent_p.N151N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	227	Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGTATGGGAACGCCGATGGGG	0.542													False	0	False	16:55519538	0	T	55519538	C	T	55519538	2	4	12	1	0	0	0	0	0	0	0	1	9725	535	19	1		1	MMP2	16	55519538	Silent	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	50379396	55519538	34835215	40	961											
MMP15	4324	broad.mit.edu	37	chr16	58074496	58074496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgcgctggggctggaGcactccagcaaccccaatgc	13	16	0	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr16:58074496G>A	ENST00000219271.3	+	5	1589	c.804G>A	c.(802-804)gaG>gaA	p.E268E		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	268					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGGGCTGGAGCACTCCAGCA	0.607													False	0	False	16:58074496	0	A	58074496	G	A	58074496	2	1	12	1	0	0	0	0	0	0	0	1	9721	962	34	2		2	MMP15	16	58074496	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	2554958	58074496	32280257	41	962											
TP53	7157	broad.mit.edu	37	chr17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacccacagctgcacagggCaggtcttggccagttggcaa	12	13	1	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr17:7578508C>T	ENST00000420246.2	-	5	554	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000269305.4_Missense_Mutation_p.C141Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGCACAGGGCAGGTCTTGGC	0.572		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)			False	0	True	17:7578508	0	T	7578508	C	T	7578508	3	4	12	1	0	0	0	0	1	0	0	0	16464	710	25	2	876	2	TP53	17	7578508	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08		7578508	73616702	42	963											
TUBG2	27175	broad.mit.edu	37	chr17	40817827	40817827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgaccggctacaccccGctcactacagaccagtcagt	7	17	3	2			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr17:40817827G>A	ENST00000251412.7	+	8	1024	c.825G>A	c.(823-825)ccG>ccA	p.P275P		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	275					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCTACACCCCGCTCACTACAG	0.637													False	0	True	17:40817827	0	A	40817827	G	A	40817827	2	1	12	1	0	0	0	0	0	0	0	1	16849	1074	38	1		1	TUBG2	17	40817827	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	33239319	40817827	40377383	43	964											
TNRC6C	57690	broad.mit.edu	37	chr17	76047066	76047067	+	Frame_Shift_Ins	INS	-	-	ATTTGATCTTT													gatctgggaacagtggctggINSggcaacagcacaaatacaaa							TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr17:76047066_76047067insATTTGATCTTT	ENST00000588847.1	+	5	2650_2651	c.1923_1924insATTTGATCTTT	c.(1924-1926)ggcfs	p.G642fs	TNRC6C_ENST00000544502.1_Frame_Shift_Ins_p.G642fs|TNRC6C_ENST00000541771.1_Frame_Shift_Ins_p.G642fs|TNRC6C_ENST00000588061.1_Frame_Shift_Ins_p.G642fs|TNRC6C_ENST00000335749.4_Frame_Shift_Ins_p.G642fs|TNRC6C_ENST00000301624.4_Frame_Shift_Ins_p.G642fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	642	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACAGTGGCTGGGGCAACAGCAC	0.505													False	0	True	17:76047066	0	ATTTGATCTTT	76047067	-	ATTTGATCTTT	76047066	7	5	12	1	0	1	1	0	0	0	0	0	16424	1241	43	0	1925	0	TNRC6C	17	76047066	Frame_Shift_Ins	INS	-	TCGA-2J-AABR-01A-11D-A40W-08	35229239	76047066	5148144	44	965											
PSG11	5680	broad.mit.edu	37	chr19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttctcgtccactgtatgCcggtccatatataattattt	6	9	1	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000403486.1_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443													False	0	False	19:43528993	0	T	43528993	C	T	43528993	3	4	12	1	0	0	0	0	1	0	0	0	12730	739	26	2	743	2	PSG11	19	43528993	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08		43528993	15599990	45	966											
PLA2G4C	8605	broad.mit.edu	37	chr19	48571097	48571097	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccattcccactttgaagcGcaaatgcctgttttcttcac	5	15	2	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:48571097G>A	ENST00000354276.3	-	13	1380	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	PLA2G4C_ENST00000599111.1_Silent_p.C361C|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000413144.2_Silent_p.C351C|PLA2G4C_ENST00000599921.1_Silent_p.C351C	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	351	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		ACTTTGAAGCGCAAATGCCTG	0.512													False	0	False	19:48571097	0	A	48571097	G	A	48571097	2	1	12	1	0	0	0	0	0	0	0	1	12072	1079	38	1		1	PLA2G4C	19	48571097	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	5042104	48571097	10557886	46	967											
NLRP9	338321	broad.mit.edu	37	chr19	56244158	56244158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctctagcctctgtttcaCacaagtacagaccaaccagc	5	16	3	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:56244158C>T	ENST00000332836.2	-	2	1066	c.1039G>A	c.(1039-1041)Gtg>Atg	p.V347M		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	347	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCTGTTTCACACAAGTACAG	0.418													False	0	True	19:56244158	0	T	56244158	C	T	56244158	3	4	12	1	0	0	0	0	1	0	0	0	10552	478	17	2	1968	2	NLRP9	19	56244158	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	7673061	56244158	2884825	47	968											
NLRP5	126206	broad.mit.edu	37	chr19	56539375	56539375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctccaggacttctgtgcCgccttgtactacgtgttaga	10	11	2	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr19:56539375C>T	ENST00000390649.3	+	7	1776	c.1776C>T	c.(1774-1776)gcC>gcT	p.A592A		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	592	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACTTCTGTGCCGCCTTGTACT	0.532													False	0	False	19:56539375	0	T	56539375	C	T	56539375	2	4	12	1	0	0	0	0	0	0	0	1	10548	639	23	1		1	NLRP5	19	56539375	Silent	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	295217	56539375	2589608	48	969											
SIRPB1	10326	broad.mit.edu	37	chr20	1592349	1592355	+	Frame_Shift_Del	DEL	GCCAGCT	GCCAGCT	-													atcacctgcagctcttcctcGccagctacccctggaaagga					rs139138248		TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	GCCAGCT	GCCAGCT	-	-	GCCAGCT	GCCAGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr20:1592349_1592355delGCCAGCT	ENST00000568365.1	-	2	145_151	c.81_87delAGCTGGC	c.(79-87)gtagctggcfs	p.VAG27fs	SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000279477.7_Frame_Shift_Del_p.VAG27fs			O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	27					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCTCTTCCTCGCCAGCTACCCCTGGAA	0.512													False	1	False	20:1592349	0	-	1592355	GCCAGCT	-	1592349	7	5	12	1	0	1	0	1	0	0	0	0	14414	1074	38	0	2262	0	SIRPB1	20	1592349	Frame_Shift_Del	DEL	GCCAGCT	TCGA-2J-AABR-01A-11D-A40W-08		1592349	61433171	49	970											
CHD6	0	broad.mit.edu	37	chr20	40052243	40052243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaaacgggaaatgatgcGgaactgtgtccagtcaaagg	13	8	1	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr20:40052243G>A	ENST00000373233.3	-	30	4621	c.4444C>T	c.(4444-4446)Cgc>Tgc	p.R1482C		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1482					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAAATGATGCGGAACTGTGTC	0.443													False	0	False	20:40052243	0	A	40052243	G	A	40052243	3	1	12	1	0	0	0	0	1	0	0	0	3352	1116	39	1	3735	1	CHD6	20	40052243	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	38459894	40052243	22973277	50	971											
PREX1	57580	broad.mit.edu	37	chr20	47309283	47309283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagatgtagagggagccGttgatggatttggtcctctt	14	6	1	4			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr20:47309283G>A	ENST00000396220.1	-	8	985	c.963C>T	c.(961-963)aaC>aaT	p.N321N	PREX1_ENST00000371941.3_Silent_p.N321N			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	321	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGAGGGAGCCGTTGATGGATT	0.552													False	0	False	20:47309283	0	A	47309283	G	A	47309283	2	1	12	1	0	0	0	0	0	0	0	1	12552	1136	40	1		1	PREX1	20	47309283	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	7257040	47309283	15716237	51	972											
FAM65C	140876	broad.mit.edu	37	chr20	49218732	49218732	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgagggccacgccaggCccgtcctctctgtccccggt	11	20	1	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr20:49218732C>A	ENST00000327979.2	-	13	1935	c.1524G>T	c.(1522-1524)ggG>ggT	p.G508G	FAM65C_ENST00000045083.2_Silent_p.G508G|FAM65C_ENST00000535356.1_Silent_p.G512G			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	508										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACGCCAGGCCCGTCCTCTC	0.697													False	0	True	20:49218732	0	A	49218732	C	A	49218732	2	1	12	1	0	0	0	0	0	0	0	1	5641	726	26	3		3	FAM65C	20	49218732	Silent	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	1909449	49218732	13806788	52	973											
CRYBB1	1414	broad.mit.edu	37	chr22	27008105	27008105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagatttgagcactcccccGagaattctgctcgacggccc	9	16	1	3			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr22:27008105G>A	ENST00000215939.2	-	3	360	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	77	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens	p.S77L(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GCACTCCCCCGAGAATTCTGC	0.612													False	0	True	22:27008105	0	A	27008105	G	A	27008105	3	1	12	1	0	0	0	0	1	0	0	0	3933	1059	37	1	544	1	CRYBB1	22	27008105	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08		27008105	24296461	53	974											
MICALL1	85377	broad.mit.edu	37	chr22	38323617	38323617	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaccctgtcagcctctcTaccaactcctccctggcctc	6	19	2	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr22:38323617T>A	ENST00000215957.6	+	9	1791	c.1665T>A	c.(1663-1665)tcT>tcA	p.S555S	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	555	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TCAGCCTCTCTACCAACTCCT	0.632													False	0	True	22:38323617	0	A	38323617	T	A	38323617	2	1	12	1	0	0	0	0	0	0	0	1	9640	1509	53	5		5	MICALL1	22	38323617	Silent	SNP	T	TCGA-2J-AABR-01A-11D-A40W-08	11315512	38323617	12980949	54	975											
L3MBTL2	83746	broad.mit.edu	37	chr22	41609955	41609955	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccttcttctccaagaccaaGaggttctgcagcgtctcctg	9	14	4	2			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr22:41609955G>A	ENST00000216237.5	+	3	479	c.321G>A	c.(319-321)aaG>aaA	p.K107K	RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	107					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	p.K107N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAAGACCAAGAGGTTCTGCA	0.512													False	0	False	22:41609955	0	A	41609955	G	A	41609955	2	1	12	1	0	0	0	0	0	0	0	1	8643	933	33	2		2	L3MBTL2	22	41609955	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	3286338	41609955	9694611	55	976											
PKDREJ	10343	broad.mit.edu	37	chr22	46653425	46653425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagagacttcaaatatgaccGaaatgctacagaacagattt	8	7	1	4			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chr22:46653425G>A	ENST00000253255.5	-	1	5794	c.5795C>T	c.(5794-5796)tCg>tTg	p.S1932L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1932					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAATATGACCGAAATGCTACA	0.373													False	0	True	22:46653425	0	A	46653425	G	A	46653425	3	1	12	1	0	0	0	0	1	0	0	0	12039	1059	37	1	970	1	PKDREJ	22	46653425	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	5043470	46653425	4651141	56	977											
YY2	404281	broad.mit.edu	37	chrX	21875556	21875556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcacattcgaaggctgCgggaaacgcttttcccttga	11	11	0	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:21875556C>T	ENST00000429584.2	+	1	1452	c.954C>T	c.(952-954)tgC>tgT	p.C318C	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	318	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TCGAAGGCTGCGGGAAACGCT	0.532													False	0	True	X:21875556	0	T	21875556	C	T	21875556	2	4	12	1	0	0	0	0	0	0	0	1	17593	776	27	1		1	YY2	23	21875556	Silent	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08		21875556	133395004	57	978											
PGAM4	441531	broad.mit.edu	37	chrX	77224488	77224488	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcttgtccaattcatagacGatgggaataccagtcggcag	10	9	2	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:77224488G>A	ENST00000458128.1	-	1	647	c.648C>T	c.(646-648)atC>atT	p.I216I	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	216					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						ATTCATAGACGATGGGAATAC	0.537													False	0	False	X:77224488	0	A	77224488	G	A	77224488	2	1	12	1	0	0	0	0	0	0	0	1	11844	1048	37	1		1	PGAM4	23	77224488	Silent	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	55348932	77224488	78046072	58	979											
BEX2	84707	broad.mit.edu	37	chrX	102564580	102564580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatcagtgctgactgcccGcaaactatgactcaactgct	10	12	2	2			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:102564580G>A	ENST00000536889.1	-	3	778	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	BEX2_ENST00000372674.1_Missense_Mutation_p.R109W|BEX2_ENST00000372677.3_Missense_Mutation_p.R109W	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	109					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						CTGACTGCCCGCAAACTATGA	0.507													False	0	True	X:102564580	0	A	102564580	G	A	102564580	3	1	12	1	0	0	0	0	1	0	0	0	1416	1086	38	1	65	1	BEX2	23	102564580	Missense_Mutation	SNP	G	TCGA-2J-AABR-01A-11D-A40W-08	25340092	102564580	52705980	59	980											
IGSF1	3547	broad.mit.edu	37	chrX	130416639	130416639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccactggtcctcgacacCgtaggctcacattctgaccc	7	17	2	1			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:130416639C>T	ENST00000370904.1	-	13	1908	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	IGSF1_ENST00000370910.1_Missense_Mutation_p.R333Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.R342Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R342Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	342	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCTCGACACCGTAGGCTCAC	0.498													False	0	False	X:130416639	0	T	130416639	C	T	130416639	3	4	12	1	0	0	0	0	1	0	0	0	7646	652	23	1	3056	1	IGSF1	23	130416639	Missense_Mutation	SNP	C	TCGA-2J-AABR-01A-11D-A40W-08	27852059	130416639	24853921	60	981											
PLXNB3	5365	broad.mit.edu	37	chrX	153036266	153036266	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggtcgaaggcctggcAggtccccacctggtgcctgt	13	15	0	0			TCGA-2J-AABR-01A-11D-A40W-08	TCGA-2J-AABR-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	534d051f-0b40-486a-8f77-646bf003d3d0	4c28dd95-5359-4c03-b338-7038de30008f	g.chrX:153036266A>T	ENST00000538966.1	+	12	2404	c.2133A>T	c.(2131-2133)gcA>gcT	p.A711A	PLXNB3_ENST00000361971.5_Silent_p.A688A|PLXNB3_ENST00000538776.1_Silent_p.A341A|PLXNB3_ENST00000538282.1_Silent_p.A298A|PLXNB3_ENST00000538543.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	688					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGCCTGGCAGGTCCCCACC	0.622													False	0	False	X:153036266	0	T	153036266	A	T	153036266	2	4	12	1	0	0	0	0	0	0	0	1	12194	175	7	5		5	PLXNB3	23	153036266	Silent	SNP	A	TCGA-2J-AABR-01A-11D-A40W-08	22619627	153036266	2234294	61	982											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	13	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-2J-AABU-01A-11D-A40W-08		22987385	226263236	1	983											
COL24A1	255631	broad.mit.edu	37	chr1	86196283	86196283	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactttcgttcagttttgagAtgaggaagtttttgtacttc	9	5	1	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:86196283A>G	ENST00000370571.2	-	60	5457	c.5091T>C	c.(5089-5091)caT>caC	p.H1697H	COL24A1_ENST00000436319.1_Silent_p.H1676H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1697	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGTTTTGAGATGAGGAAGTT	0.393													False	0	False	1:86196283	0	G	86196283	A	G	86196283	2	3	13	1	0	0	0	0	0	0	0	1	3706	330	12	4		4	COL24A1	1	86196283	Silent	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	63208898	86196283	163054338	2	984											
RYR2	6262	broad.mit.edu	37	chr1	237794804	237794804	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcacgagactgtgatggAggtcatggtgaacgtccttg	15	7	1	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:237794804A>G	ENST00000366574.2	+	42	6835	c.6518A>G	c.(6517-6519)gAg>gGg	p.E2173G	RYR2_ENST00000360064.6_Missense_Mutation_p.E2171G|RYR2_ENST00000542537.1_Missense_Mutation_p.E2157G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2173	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTGTGATGGAGGTCATGGTG	0.433													False	0	False	1:237794804	0	G	237794804	A	G	237794804	3	3	13	1	0	0	0	0	1	0	0	0	13848	304	11	4	6684	4	RYR2	1	237794804	Missense_Mutation	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	151598521	237794804	11455817	3	985											
SMYD3	64754	broad.mit.edu	37	chr1	246078893	246078893	+	Frame_Shift_Del	DEL	T	T	-													agtactggtccctcagctgcTtccggcgctcctcactggtc							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr1:246078893delT	ENST00000490107.1	-	8	791	c.575delA	c.(574-576)aagfs	p.K192fs	SMYD3_ENST00000388985.4_Frame_Shift_Del_p.K251fs|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Frame_Shift_Del_p.K192fs	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	251	SET.					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CCTCAGCTGCTTCCGGCGCTC	0.527													False	2	False	1:246078893	0	-	246078893	T	-	246078893	7	5	13	1	0	1	0	1	0	0	0	0	14903	1609	56	0	554	0	SMYD3	1	246078893	Frame_Shift_Del	DEL	T	TCGA-2J-AABU-01A-11D-A40W-08	8284089	246078893	3171728	4	986											
NRXN1	9378	broad.mit.edu	37	chr2	50765572	50765572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagccatttgccggatatcTttgctttggccatcgatgaa	9	10	2	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:50765572T>G	ENST00000404971.1	-	11	3421	c.2082A>C	c.(2080-2082)aaA>aaC	p.K694N	NRXN1_ENST00000401669.2_Missense_Mutation_p.K654N|NRXN1_ENST00000405472.3_Missense_Mutation_p.K646N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.K646N|NRXN1_ENST00000406316.2_Missense_Mutation_p.K654N|NRXN1_ENST00000406859.3_Missense_Mutation_p.K654N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	654	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCGGATATCTTTGCTTTGGC	0.498													False	0	True	2:50765572	0	G	50765572	T	G	50765572	3	3	13	1	0	0	0	0	1	0	0	0	10733	1606	56	4	2880	4	NRXN1	2	50765572	Missense_Mutation	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08		50765572	192433801	5	987											
KIAA1841	84542	broad.mit.edu	37	chr2	61304193	61304193	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcgctgggaagaggtGgacatttcagttcattgcga	14	9	2	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:61304193G>T	ENST00000402291.1	+	6	811	c.570G>T	c.(568-570)gtG>gtT	p.V190V	KIAA1841_ENST00000295031.5_Silent_p.V190V|KIAA1841_ENST00000453873.1_Silent_p.V190V|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Silent_p.V190V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	190										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GGGAAGAGGTGGACATTTCAG	0.378													False	0	False	2:61304193	0	T	61304193	G	T	61304193	2	4	13	1	0	0	0	0	0	0	0	1	8311	1335	47	3		3	KIAA1841	2	61304193	Silent	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	10538621	61304193	181895180	6	988											
LRRTM4	80059	broad.mit.edu	37	chr2	77745555	77745555	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacataatactcctgtaaAggggaattcatttgtctttc	6	9	2	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:77745555A>G	ENST00000409088.3	-	3	1854	c.1440T>C	c.(1438-1440)ccT>ccC	p.P480P	LRRTM4_ENST00000409911.1_Silent_p.P481P|LRRTM4_ENST00000409282.1_Silent_p.P481P|LRRTM4_ENST00000409884.1_Silent_p.P480P|LRRTM4_ENST00000409093.1_Silent_p.P480P	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	480						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACTCCTGTAAAGGGGAATTCA	0.473													False	0	True	2:77745555	0	G	77745555	A	G	77745555	2	3	13	1	0	0	0	0	0	0	0	1	9104	59	3	4		4	LRRTM4	2	77745555	Silent	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	16441362	77745555	165453818	7	989											
THSD7B	80731	broad.mit.edu	37	chr2	138163324	138163324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcttggtccaagtttaCgccctgctccacgaactgtg	9	14	0	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:138163324C>T	ENST00000409968.1	+	13	2820	c.2642C>T	c.(2641-2643)aCg>aTg	p.T881M	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T881M|THSD7B_ENST00000413152.2_Missense_Mutation_p.T850M					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCAAGTTTACGCCCTGCTCC	0.502													False	0	False	2:138163324	0	T	138163324	C	T	138163324	3	4	13	1	0	0	0	0	1	0	0	0	15962	536	19	1	2595	1	THSD7B	2	138163324	Missense_Mutation	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08	60417769	138163324	105036049	8	990											
KIF5C	3800	broad.mit.edu	37	chr2	149854968	149854968	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagctcaccagaagcagctgTccagactccgagacgaaatt	9	12	1	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr2:149854968T>A	ENST00000435030.1	+	19	2523	c.2155T>A	c.(2155-2157)Tcc>Acc	p.S719T	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.S624T|KIF5C_ENST00000397413.1_Missense_Mutation_p.S487T			O60282	KIF5C_HUMAN	kinesin family member 5C	719					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GAAGCAGCTGTCCAGACTCCG	0.572													False	0	False	2:149854968	0	A	149854968	T	A	149854968	3	1	13	1	0	0	0	0	1	0	0	0	8357	1667	58	5	2151	5	KIF5C	2	149854968	Missense_Mutation	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08	11691644	149854968	93344405	9	991											
SLIT2	9353	broad.mit.edu	37	chr4	20618553	20618553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgccagggaagagtaacGtggcatctctgcgccaggcc	14	12	1	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:20618553G>A	ENST00000504154.1	+	35	4120	c.3868G>A	c.(3868-3870)Gtg>Atg	p.V1290M	SLIT2_ENST00000273739.5_Missense_Mutation_p.V1303M|SLIT2_ENST00000503837.1_Missense_Mutation_p.V1286M|SLIT2_ENST00000503823.1_Missense_Mutation_p.V1282M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1290	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAGAGTAACGTGGCATCTCT	0.562													False	0	False	4:20618553	0	A	20618553	G	A	20618553	3	1	13	1	0	0	0	0	1	0	0	0	14820	1145	40	1	4006	1	SLIT2	4	20618553	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		20618553	170535723	10	992											
TLR6	10333	broad.mit.edu	37	chr4	38830535	38830535	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatttgtagactttctgtcTcattttcttttatataataa	4	5	3	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:38830535T>A	ENST00000436693.2	-	2	679	c.560A>T	c.(559-561)gAg>gTg	p.E187V	TLR6_ENST00000381950.1_Missense_Mutation_p.E187V	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	187					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTTTCTGTCTCATTTTCTTT	0.318													False	0	False	4:38830535	0	A	38830535	T	A	38830535	3	1	13	1	0	0	0	0	1	0	0	0	16037	1551	54	5	1834	5	TLR6	4	38830535	Missense_Mutation	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08	18211982	38830535	152323741	11	993											
ARHGAP24	83478	broad.mit.edu	37	chr4	86898803	86898803	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacggtctttggtcctaataTcctgcgccccaaagtggaag	10	11	1	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:86898803T>C	ENST00000395184.1	+	8	1353	c.887T>C	c.(886-888)aTc>aCc	p.I296T	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.I201T|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.I203T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	296	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GGTCCTAATATCCTGCGCCCC	0.398													False	0	False	4:86898803	0	C	86898803	T	C	86898803	3	2	13	1	0	0	0	0	1	0	0	0	875	1435	50	4	1029	4	ARHGAP24	4	86898803	Missense_Mutation	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08	48068268	86898803	104255473	12	994											
NFKB1	4790	broad.mit.edu	37	chr4	103517377	103517377	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaacctctttgggaaAgttattgaaaccacagagca	8	8	1	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr4:103517377A>G	ENST00000226574.4	+	14	1850	c.1383A>G	c.(1381-1383)aaA>aaG	p.K461K	NFKB1_ENST00000600343.1_Silent_p.K280K|NFKB1_ENST00000505458.1_Silent_p.K460K|NFKB1_ENST00000394820.4_Silent_p.K460K	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	460	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCTTTGGGAAAGTTATTGAAA	0.433													False	0	True	4:103517377	0	G	103517377	A	G	103517377	2	3	13	1	0	0	0	0	0	0	0	1	10443	69	3	4		4	NFKB1	4	103517377	Silent	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	16618574	103517377	87636899	13	995											
TMED9	54732	broad.mit.edu	37	chr5	177022351	177022351	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attctgcagaccctcatcctCgtggccatcggtgtctggca	10	14	3	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr5:177022351C>T	ENST00000332598.6	+	5	699	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	214					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTCATCCTCGTGGCCATCG	0.592													False	0	False	5:177022351	0	T	177022351	C	T	177022351	2	4	13	1	0	0	0	0	0	0	0	1	16094	871	31	1		1	TMED9	5	177022351	Silent	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08		177022351	3892909	14	996											
F13A1	2162	broad.mit.edu	37	chr6	6225029	6225029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtccaggccgatggggggAcgccataggcatagatattg	15	9	0	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:6225029A>G	ENST00000264870.3	-	7	1128	c.863T>C	c.(862-864)gTc>gCc	p.V288A		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	288					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGATGGGGGGACGCCATAGGC	0.507													False	0	True	6:6225029	0	G	6225029	A	G	6225029	3	3	13	1	0	0	0	0	1	0	0	0	5373	275	10	4	1371	4	F13A1	6	6225029	Missense_Mutation	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08		6225029	164890038	15	997											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	13	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-2J-AABU-01A-11D-A40W-08	1168421	7393450	163721617	16	998											
SLC35B3	51000	broad.mit.edu	37	chr6	8430252	8430252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgggttttggatggcaCagtgatagaaatatatttcc	11	4	0	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:8430252C>T	ENST00000379660.4	-	3	591	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	SLC35B3_ENST00000426876.1_Missense_Mutation_p.V114M|SLC35B3_ENST00000339306.5_Missense_Mutation_p.V48M	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	48					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TTGGATGGCACAGTGATAGAA	0.378													False	0	False	6:8430252	0	T	8430252	C	T	8430252	3	4	13	1	0	0	0	0	1	0	0	0	14657	478	17	2	1099	2	SLC35B3	6	8430252	Missense_Mutation	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08	1036802	8430252	162684815	17	999											
MLLT4	4301	broad.mit.edu	37	chr6	168315909	168315909	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgacgctgcagagtcaatgcCgccctgaccatccagctctt	9	16	2	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr6:168315909C>A	ENST00000366806.2	+	18	2482	c.2340C>A	c.(2338-2340)gcC>gcA	p.A780A	MLLT4_ENST00000344191.4_Silent_p.A780A|MLLT4_ENST00000447894.2_Silent_p.A780A|MLLT4_ENST00000392112.1_Silent_p.A764A|MLLT4_ENST00000392108.3_Silent_p.A780A|MLLT4_ENST00000351017.4_Silent_p.A787A|MLLT4_ENST00000400822.3_Silent_p.A779A			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	780	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GAGTCAATGCCGCCCTGACCA	0.537			T	MLL	AL								False	0	False	6:168315909	0	A	168315909	C	A	168315909	2	1	13	1	0	0	0	0	0	0	0	1	9696	639	23	3		3	MLLT4	6	168315909	Silent	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08	159885657	168315909	2799158	18	1000											
IQCE	23288	broad.mit.edu	37	chr7	2617923	2617923	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacctgatgagaacgaagctCcggcgcctggaggaggaaaa	15	9	0	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:2617923C>T	ENST00000402050.2	+	7	697	c.513C>T	c.(511-513)ctC>ctT	p.L171L	IQCE_ENST00000325979.7_Silent_p.L106L|IQCE_ENST00000404984.1_Silent_p.L120L|IQCE_ENST00000438376.2_Silent_p.L155L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	171										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GAACGAAGCTCCGGCGCCTGG	0.612													False	0	False	7:2617923	0	T	2617923	C	T	2617923	2	4	13	1	0	0	0	0	0	0	0	1	7856	842	30	2		2	IQCE	7	2617923	Silent	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08		2617923	156520740	19	1001											
PMS2	5395	broad.mit.edu	37	chr7	6043387	6043387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaacctgagttaggtcgGcaaactcttgaatcttagat	8	8	3	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:6043387G>A	ENST00000265849.7	-	4	392	c.287C>T	c.(286-288)gCc>gTc	p.A96V	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Missense_Mutation_p.A96V|PMS2_ENST00000406569.3_Missense_Mutation_p.A96V|PMS2_ENST00000441476.2_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	96					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGTTAGGTCGGCAAACTCTTG	0.403			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	False	7:6043387	0	A	6043387	G	A	6043387	3	1	13	1	0	0	0	0	1	0	0	0	12212	1203	42	2	2349	2	PMS2	7	6043387	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	3425464	6043387	153095276	20	1002											
ELMO1	9844	broad.mit.edu	37	chr7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccttgacgatgtccgCgggtggcggcattgtaagtc	15	11	0	1	rs146510671		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502													False	0	True	7:37382282	0	T	37382282	C	T	37382282	3	4	13	1	0	0	0	0	1	0	0	0	5097	768	27	1	2254	1	ELMO1	7	37382282	Missense_Mutation	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08	31338895	37382282	121756381	21	1003											
PXDNL	137902	broad.mit.edu	37	chr8	52321490	52321490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccgagctcccgtaaacGttggagccatcgatgtaggc	12	13	0	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:52321490G>A	ENST00000356297.4	-	17	2794	c.2694C>T	c.(2692-2694)aaC>aaT	p.N898N	PXDNL_ENST00000543296.1_Silent_p.N898N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	898					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCCCGTAAACGTTGGAGCCAT	0.622													False	0	False	8:52321490	0	A	52321490	G	A	52321490	2	1	13	1	0	0	0	0	0	0	0	1	12927	1136	40	1		1	PXDNL	8	52321490	Silent	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		52321490	94042532	22	1004											
FAM91A1	157769	broad.mit.edu	37	chr8	124787436	124787436	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tactatgaggaactgctaaaGtacagccgagatcatctcat	8	9	2	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:124787436G>C	ENST00000334705.7	+	3	453	c.207G>C	c.(205-207)aaG>aaC	p.K69N	FAM91A1_ENST00000521166.1_Missense_Mutation_p.K69N	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	69										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AACTGCTAAAGTACAGCCGAG	0.373													False	0	True	8:124787436	0	C	124787436	G	C	124787436	3	2	13	1	0	0	0	0	1	0	0	0	5691	1020	36	5	217	5	FAM91A1	8	124787436	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	72465946	124787436	21576586	23	1005			1	4		2	2	58	N	G_A	9.758301e-05
FAM91A1	157769	broad.mit.edu	37	chr8	124787493	124787493	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatcggatattatggtgaaAggcttgaggataacaccatt	10	6	0	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr8:124787493A>G	ENST00000334705.7	+	3	510	c.264A>G	c.(262-264)aaA>aaG	p.K88K	FAM91A1_ENST00000521166.1_Silent_p.K88K	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	88										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTATGGTGAAAGGCTTGAGGA	0.438													False	0	True	8:124787493	0	G	124787493	A	G	124787493	2	3	13	1	0	0	0	0	0	0	0	1	5691	69	3	4		4	FAM91A1	8	124787493	Silent	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	57	124787493	21576529	24	1006			1	4		2	2	58	N	G_A	9.758301e-05
DENND4C	55667	broad.mit.edu	37	chr9	19305370	19305370	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatctttccatttcagtgGcaatgcccatatattcccct	5	12	2	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:19305370G>A	ENST00000380432.2	+	6	657	c.624G>A	c.(622-624)tgG>tgA	p.W208*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.W444*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.W444*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	208	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CATTTCAGTGGCAATGCCCAT	0.328													False	0	False	9:19305370	0	A	19305370	G	A	19305370	4	1	13	1	0	0	0	0	0	1	0	0	4465	1212	42	2	646	2	DENND4C	9	19305370	Nonsense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		19305370	121908061	25	1007											
DNAJA1	3301	broad.mit.edu	37	chr9	33026981	33026982	+	In_Frame_Ins	INS	-	-	CTTCGT													gaggaaggatgcagagagaaINSaggagaggtaagaagaatct							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:33026981_33026982insCTTCGT	ENST00000330899.4	+	3	486_487	c.303_304insCTTCGT	c.(304-306)agg>CTTCGTagg	p.101_102insLR	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_Intron	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	101					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGCAGAGAGAAAGGAGAGGTAA	0.436													False	0	True	9:33026981	0	CTTCGT	33026982	-	CTTCGT	33026981	7	5	13	1	0	1	1	0	0	0	0	0	4641	11	1	0	309	0	DNAJA1	9	33026981	In_Frame_Ins	INS	-	TCGA-2J-AABU-01A-11D-A40W-08	13721611	33026981	108186450	26	1008											
PIGO	84720	broad.mit.edu	37	chr9	35090660	35090660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgcctgccatggcacaGtaaaaggacctggaagaaaa	11	9	0	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35090660G>A	ENST00000378617.3	-	8	3051	c.2657C>T	c.(2656-2658)aCt>aTt	p.T886I	PIGO_ENST00000298004.5_Missense_Mutation_p.T469I|PIGO_ENST00000341666.3_Missense_Mutation_p.T886I|PIGO_ENST00000361778.2_Missense_Mutation_p.T469I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	886				PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8).	C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCATGGCACAGTAAAAGGACC	0.502													False	0	False	9:35090660	0	A	35090660	G	A	35090660	3	1	13	1	0	0	0	0	1	0	0	0	11963	1029	36	2	628	2	PIGO	9	35090660	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	2063679	35090660	106122771	27	1009											
CD72	971	broad.mit.edu	37	chr9	35612889	35612889	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtggccagcttggaagacaGagtttcacattgtttttggc	12	7	1	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35612889G>A	ENST00000396757.1	-	7	954	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Silent_p.L264L			P21854	CD72_HUMAN	CD72 molecule	264	C-type lectin.				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGAAGACAGAGTTTCACAT	0.418													False	0	False	9:35612889	0	A	35612889	G	A	35612889	2	1	13	1	0	0	0	0	0	0	0	1	3057	933	33	2		2	CD72	9	35612889	Silent	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	522229	35612889	105600542	28	1010											
CD72	971	broad.mit.edu	37	chr9	35612958	35612958	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgtaaaagcagcttttctGatgcattatccatcccgacg	8	10	1	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr9:35612958G>A	ENST00000396757.1	-	7	885	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Nonsense_Mutation_p.Q241*			P21854	CD72_HUMAN	CD72 molecule	241	C-type lectin.				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCTTTTCTGATGCATTATC	0.423													False	0	False	9:35612958	0	A	35612958	G	A	35612958	4	1	13	1	0	0	0	0	0	1	0	0	3057	1299	45	2	370	2	CD72	9	35612958	Nonsense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	69	35612958	105600473	29	1011											
RBP3	5949	broad.mit.edu	37	chr10	48389752	48389752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcagacgcagcctgcaGgccggcattgagcttggtga	13	12	1	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr10:48389752G>A	ENST00000224600.4	-	1	1239	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	376	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCAGCCTGCAGGCCGGCATTG	0.652													False	0	False	10:48389752	0	A	48389752	G	A	48389752	2	1	13	1	0	0	0	0	0	0	0	1	13236	991	35	2		2	RBP3	10	48389752	Silent	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		48389752	87144995	30	1012											
SF3B2	10992	broad.mit.edu	37	chr11	65826742	65826742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaactggagaactctgcagCccccaagaagaagggatttg	11	10	1	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr11:65826742C>T	ENST00000528302.1	+	10	1256	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V	SF3B2_ENST00000322535.6_Missense_Mutation_p.A418V			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	418					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AACTCTGCAGCCCCCAAGAAG	0.532													False	0	True	11:65826742	0	T	65826742	C	T	65826742	3	4	13	1	0	0	0	0	1	0	0	0	14232	739	26	2	1295	2	SF3B2	11	65826742	Missense_Mutation	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08		65826742	69179774	31	1013											
SIK3	23387	broad.mit.edu	37	chr11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-													ggtattcttgctgttgctgcTgttgctgctgctgctgccgt					rs539858	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596													False	1	True	11:116729011	0	-	116729013	TGT	-	116729011	7	5	13	1	0	1	0	1	0	0	0	0	14400	1580	55	0	955	0	SIK3	11	116729011	In_Frame_Del	DEL	TGT	TCGA-2J-AABU-01A-11D-A40W-08	50902269	116729011	18277505	32	1014											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	13	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08		25398285	108453610	33	1015											
KCNH3	23416	broad.mit.edu	37	chr12	49943305	49943305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctttctgtaccacagccGcacgcgcgacctgcgcgact	10	18	1	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:49943305G>A	ENST00000257981.6	+	9	1810	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	517					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TACCACAGCCGCACGCGCGAC	0.637													False	0	False	12:49943305	0	A	49943305	G	A	49943305	3	1	13	1	0	0	0	0	1	0	0	0	8083	1087	38	1	1584	1	KCNH3	12	49943305	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	24545020	49943305	83908590	34	1016											
LUM	4060	broad.mit.edu	37	chr12	91502249	91502249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagcatcctctttcagccGattgtgctggagatggatga	11	9	2	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr12:91502249G>A	ENST00000266718.4	-	2	962	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	170					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R170R(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCTTTCAGCCGATTGTGCTGG	0.443													False	0	False	12:91502249	0	A	91502249	G	A	91502249	3	1	13	1	0	0	0	0	1	0	0	0	9147	1057	37	1	516	1	LUM	12	91502249	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	41558944	91502249	42349646	35	1017											
POTEM	641455	broad.mit.edu	37	chr14	20019852	20019852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgaaagcgctgtcgtcGtagtctccccaggggcccac	11	15	1	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:20019852G>A	ENST00000551509.1	-	1	420	c.369C>T	c.(367-369)taC>taT	p.Y123Y		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	123										endometrium(4)|kidney(1)|lung(4)	9						CGCTGTCGTCGTAGTCTCCCC	0.597													False	0	False	14:20019852	0	A	20019852	G	A	20019852	2	1	13	1	0	0	0	0	0	0	0	1	12337	1140	40	1		1	POTEM	14	20019852	Silent	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		20019852	87329688	36	1018											
NYNRIN	57523	broad.mit.edu	37	chr14	24886612	24886612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgaaggcctttgccaAgagtggcaccccgctgtcct	11	13	1	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr14:24886612A>G	ENST00000382554.3	+	9	5975	c.5657A>G	c.(5656-5658)aAg>aGg	p.K1886R		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1886					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCCTTTGCCAAGAGTGGCACC	0.637													False	0	False	14:24886612	0	G	24886612	A	G	24886612	3	3	13	1	0	0	0	0	1	0	0	0	10864	72	3	4	5687	4	NYNRIN	14	24886612	Missense_Mutation	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	4866760	24886612	82462928	37	1019											
TYRO3	7301	broad.mit.edu	37	chr15	41863886	41863887	+	Splice_Site	INS	-	-	GGTAAGCCTCCGGAGCAGGGCTAAAGGCCGTCTCCCCATCCCCA													cacgtggccaaacttgttggINStgagcccatttttgggggag							TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:41863886_41863887insGGTAAGCCTCCGGAGCAGGGCTAAAGGCCGTCTCCCCATCCCCA	ENST00000263798.3	+	14	1977		c.e14+1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAACTTGTTGGTGAGCCCATTT	0.475													False	0	False	15:41863886	0	GGTAAGCCTCCGGAGCAGGGCTAAAGGCCGTCTCCCCATCCCCA	41863887	-	GGTAAGCCTCCGGAGCAGGGCTAAAGGCCGTCTCCCCATCCCCA	41863886	8	5	13	1	0	1	1	0	0	0	1	0	16898	1275	44	0	1808	0	TYRO3	15	41863886	Splice_Site	INS	-	TCGA-2J-AABU-01A-11D-A40W-08		41863886	60667506	38	1020											
FBN1	2200	broad.mit.edu	37	chr15	48714160	48714160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctactcaccaatgcaggacGtatggtgttgggtaaatccg	11	10	1	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:48714160G>A	ENST00000316623.5	-	61	8014	c.7559C>T	c.(7558-7560)aCg>aTg	p.T2520M		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2520	EGF-like 43; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AATGCAGGACGTATGGTGTTG	0.433													False	0	False	15:48714160	0	A	48714160	G	A	48714160	3	1	13	1	0	0	0	0	1	0	0	0	5742	1145	40	1	1080	1	FBN1	15	48714160	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	6850274	48714160	53817232	39	1021											
FSD2	123722	broad.mit.edu	37	chr15	83428187	83428187	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaaacagggatgcacAaattcgtgaagctgacaact	9	7	0	3			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr15:83428187A>T	ENST00000334574.8	-	13	2344	c.2163T>A	c.(2161-2163)ttT>ttA	p.F721L	FSD2_ENST00000541889.1_Missense_Mutation_p.F676L			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	721	B30.2/SPRY.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AGGGATGCACAAATTCGTGAA	0.353													False	0	True	15:83428187	0	T	83428187	A	T	83428187	3	4	13	1	0	0	0	0	1	0	0	0	6113	127	5	5	90	5	FSD2	15	83428187	Missense_Mutation	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	34714027	83428187	19103205	40	1022											
GTF3C1	2975	broad.mit.edu	37	chr16	27517278	27517278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaccactgttgctgtccGcacagtgggagacaaaggac	12	11	1	1	rs140459536		TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr16:27517278G>A	ENST00000356183.4	-	10	1727	c.1712C>T	c.(1711-1713)gCg>gTg	p.A571V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.A571V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	571						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTTGCTGTCCGCACAGTGGGA	0.567													False	0	False	16:27517278	0	A	27517278	G	A	27517278	3	1	13	1	0	0	0	0	1	0	0	0	6919	1087	38	1	4729	1	GTF3C1	16	27517278	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		27517278	62837475	41	1023											
ZZEF1	23140	broad.mit.edu	37	chr17	3917724	3917724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcactgctgctggacatgGctaactcgtcacagccctcc	9	15	2	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:3917724G>A	ENST00000381638.2	-	50	8355	c.8231C>T	c.(8230-8232)gCc>gTc	p.A2744V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2744							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCTGGACATGGCTAACTCGTC	0.483													False	0	False	17:3917724	0	A	3917724	G	A	3917724	3	1	13	1	0	0	0	0	1	0	0	0	18337	1203	42	2	678	2	ZZEF1	17	3917724	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		3917724	77277486	42	1024											
TP53	7157	broad.mit.edu	37	chr17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catagggcaccaccacactaTgtcgaaaagtgtttctgtca	8	11	2	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:7578208T>C	ENST00000420246.2	-	6	773	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H214R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	214	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACCACACTATGTCGAAAAGT	0.542		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)			False	0	False	17:7578208	0	C	7578208	T	C	7578208	3	2	13	1	0	0	0	0	1	0	0	0	16464	1464	51	4	653	4	TP53	17	7578208	Missense_Mutation	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08	3660484	7578208	73617002	43	1025											
KRTAP1-5	83895	broad.mit.edu	37	chr17	39183129	39183129	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccaatgccacagccAgttccgcaggagctgatctg	9	16	1	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:39183129A>G	ENST00000361883.5	-	1	325	c.279T>C	c.(277-279)acT>acC	p.T93T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	93	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TGCCACAGCCAGTTCCGCAGG	0.637													False	0	False	17:39183129	0	G	39183129	A	G	39183129	2	3	13	1	0	0	0	0	0	0	0	1	8554	175	7	4		4	KRTAP1-5	17	39183129	Silent	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	31604921	39183129	42012081	44	1026											
ADAM11	4185	broad.mit.edu	37	chr17	42851860	42851860	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatcttccccacccccagTacggcaacatgggggcgatg	10	17	1	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr17:42851860T>C	ENST00000200557.6	+	13	1247	c.1078T>C	c.(1078-1080)Tac>Cac	p.Y360H	ADAM11_ENST00000535346.1_Splice_Site_p.Y160H	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	360	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCACCCCCAGTACGGCAACAT	0.632													False	0	False	17:42851860	0	C	42851860	T	C	42851860	5	2	13	1	0	0	0	0	0	0	1	0	235	1652	57	4	1128	4	ADAM11	17	42851860	Splice_Site	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08	3668731	42851860	38343350	45	1027											
ATP8B3	148229	broad.mit.edu	37	chr19	1785511	1785511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacagggccaccacgaccGcaaaggactggtggtcgctg	14	12	0	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:1785511G>A	ENST00000539485.1	-	26	3613	c.3380C>T	c.(3379-3381)gCg>gTg	p.A1127V	ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1080V|ATP8B3_ENST00000310127.6_Missense_Mutation_p.A1117V			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1117					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCACGACCGCAAAGGACTG	0.637													False	0	False	19:1785511	0	A	1785511	G	A	1785511	3	1	13	1	0	0	0	0	1	0	0	0	1200	1087	38	1	568	1	ATP8B3	19	1785511	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		1785511	57343472	46	1028											
C19orf35	374872	broad.mit.edu	37	chr19	2278825	2278825	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcagatcgcggagggAgaggcccagtggggcgtcag	20	9	1	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:2278825A>T	ENST00000342063.3	-	3	463	c.370T>A	c.(370-372)Tcc>Acc	p.S124T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	124										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCGGAGGGAGAGGCCCAGT	0.687													False	0	True	19:2278825	0	T	2278825	A	T	2278825	3	4	13	1	0	0	0	0	1	0	0	0	1935	304	11	5	1059	5	C19orf35	19	2278825	Missense_Mutation	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	493314	2278825	56850158	47	1029											
PSG3	5671	broad.mit.edu	37	chr19	43237088	43237088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgagtcatagggaggCtctgaccattcatccaccac	10	12	3	2			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:43237088C>T	ENST00000327495.5	-	3	741	c.557G>A	c.(556-558)aGc>aAc	p.S186N	PSG3_ENST00000595140.1_Missense_Mutation_p.S186N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	186	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CATAGGGAGGCTCTGACCATT	0.488													False	0	False	19:43237088	0	T	43237088	C	T	43237088	3	4	13	1	0	0	0	0	1	0	0	0	12732	797	28	2	745	2	PSG3	19	43237088	Missense_Mutation	SNP	C	TCGA-2J-AABU-01A-11D-A40W-08	40958263	43237088	15891895	48	1030											
PNKP	11284	broad.mit.edu	37	chr19	50365046	50365046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctggcgcggctcgcggcGtctgggtttgtgttgtcgat	16	10	1	0			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:50365046G>A	ENST00000322344.3	-	14	1390	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	PNKP_ENST00000600910.1_Intron|PNKP_ENST00000596014.1_Silent_p.D427D|PNKP_ENST00000600573.1_Silent_p.D396D	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	427					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GGCTCGCGGCGTCTGGGTTTG	0.687								Other BER factors					False	0	False	19:50365046	0	A	50365046	G	A	50365046	2	1	13	1	0	0	0	0	0	0	0	1	12216	1136	40	1		1	PNKP	19	50365046	Silent	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08	7127958	50365046	8763937	49	1031											
ZNF160	90338	broad.mit.edu	37	chr19	53572263	53572263	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacactcattacacttgtaAggtttctctccagtatgaat	5	11	2	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr19:53572263A>C	ENST00000601421.1	-	3	2292	c.1416T>G	c.(1414-1416)ccT>ccG	p.P472P	ZNF160_ENST00000429604.1_Silent_p.P508P|ZNF160_ENST00000418871.1_Silent_p.P508P|ZNF160_ENST00000599056.1_Silent_p.P508P			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	508					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TACACTTGTAAGGTTTCTCTC	0.383													False	0	False	19:53572263	0	C	53572263	A	C	53572263	2	2	13	1	0	0	0	0	0	0	0	1	17822	59	3	4		4	ZNF160	19	53572263	Silent	SNP	A	TCGA-2J-AABU-01A-11D-A40W-08	3207217	53572263	5556720	50	1032											
SLC5A3	6526	broad.mit.edu	37	chr21	35468701	35468701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaacttatccgcaagagcGcaagctcccgggagttaatg	10	11	0	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chr21:35468701G>A	ENST00000608209.1	+	2	1716	c.1204G>A	c.(1204-1206)Gca>Aca	p.A402T	SLC5A3_ENST00000381151.3_Missense_Mutation_p.A402T|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCGCAAGAGCGCAAGCTCCCG	0.478													False	0	False	21:35468701	0	A	35468701	G	A	35468701	3	1	13	1	0	0	0	0	1	0	0	0	14746	1087	38	1	1206	1	SLC5A3	21	35468701	Missense_Mutation	SNP	G	TCGA-2J-AABU-01A-11D-A40W-08		35468701	12661194	51	1033											
ZRSR2	8233	broad.mit.edu	37	chrX	15827397	15827397	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggagaaggatcgagctaaTtgtcccttctacagtaaaac	9	8	1	1			TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chrX:15827397T>C	ENST00000307771.7	+	7	537	c.513T>C	c.(511-513)aaT>aaC	p.N171N		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	171					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					ATCGAGCTAATTGTCCCTTCT	0.383			"F, S, Mis"		"MDS, CLL"								False	0	False	X:15827397	0	C	15827397	T	C	15827397	2	2	13	1	0	0	0	0	0	0	0	1	18307	1490	52	4		4	ZRSR2	23	15827397	Silent	SNP	T	TCGA-2J-AABU-01A-11D-A40W-08		15827397	139443163	52	1034											
IRS4	8471	broad.mit.edu	37	chrX	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-													ctgctgctagagctgccgctGccgccgctgctgcacctctt					rs2073114	byFrequency	TCGA-2J-AABU-01A-11D-A40W-08	TCGA-2J-AABU-10A-01D-A40W-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f137e1d-fdcc-4d47-84e4-6fb48a7f236b	39946151-48c1-482f-961e-3f170e963b75	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616													False	2	True	X:107979510	0	-	107979512	GCC	-	107979510	7	5	13	1	0	1	0	1	0	0	0	0	7892	1319	46	0	3712	0	IRS4	23	107979510	In_Frame_Del	DEL	GCC	TCGA-2J-AABU-01A-11D-A40W-08	92152113	107979510	47291050	53	1035											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	14	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-2J-AABV-01A-12D-A40W-08		22987385	226263236	1	1036											
KCNC4	3749	broad.mit.edu	37	chr1	110768613	110768613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagactctaagcagaatggCgatgccaacgcagtgctgtc	11	11	2	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:110768613C>T	ENST00000369787.3	+	3	1659	c.1632C>T	c.(1630-1632)ggC>ggT	p.G544G	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.G544G|KCNC4_ENST00000413138.3_Silent_p.G544G	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	544					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCAGAATGGCGATGCCAACG	0.652													False	0	False	1:110768613	0	T	110768613	C	T	110768613	2	4	14	1	0	0	0	0	0	0	0	1	8067	755	27	1		1	KCNC4	1	110768613	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	87781228	110768613	138482008	2	1037											
NBPF16	728936	broad.mit.edu	37	chr1	148753330	148753330	+	Frame_Shift_Del	DEL	T	T	-													tgttattcgactccttcagaTtatcttgaactgcctgactt							TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:148753330delT	ENST00000417839.1	+	12	1537	c.1347delT	c.(1345-1347)gatfs	p.D449fs		NM_001102663.1	NP_001096133.1			neuroblastoma breakpoint family, member 16											breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CTCCTTCAGATTATCTTGAAC	0.493													False	2	False	1:148753330	0	-	148753330	T	-	148753330	7	5	14	1	0	1	0	1	0	0	0	0	10264	1490	52	0	3462	0	NBPF16	1	148753330	Frame_Shift_Del	DEL	T	TCGA-2J-AABV-01A-12D-A40W-08	37984717	148753330	100497291	3	1038											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	14	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-2J-AABV-01A-12D-A40W-08	3918185	152671515	96579106	4	1039											
OR6K6	128371	broad.mit.edu	37	chr1	158725052	158725052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgacagcaatggccattgaCaggtacatagctatctgcaa	9	10	1	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:158725052C>A	ENST00000368144.2	+	1	543	c.447C>A	c.(445-447)gaC>gaA	p.D149E		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGGCCATTGACAGGTACATAG	0.488													False	0	False	1:158725052	0	A	158725052	C	A	158725052	3	1	14	1	0	0	0	0	1	0	0	0	11272	477	17	3	449	3	OR6K6	1	158725052	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	6053537	158725052	90525569	5	1040											
TNN	63923	broad.mit.edu	37	chr1	175086217	175086217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagaccagggaggttccGgtggggaaggagcagagtag	21	5	0	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:175086217G>A	ENST00000239462.4	+	10	2375	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	754	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGGAGGTTCCGGTGGGGAAGG	0.637													False	0	False	1:175086217	0	A	175086217	G	A	175086217	2	1	14	1	0	0	0	0	0	0	0	1	16405	1103	39	1		1	TNN	1	175086217	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	16361165	175086217	74164404	6	1041											
OBSCN	84033	broad.mit.edu	37	chr1	228400270	228400270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcagctgctacgtgacCggcgagcccaagcccgagac	12	17	1	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:228400270C>T	ENST00000570156.2	+	2	860	c.786C>T	c.(784-786)acC>acT	p.T262T	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000284548.11_Silent_p.T262T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.T262T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	262	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTACGTGACCGGCGAGCCCA	0.711													False	0	False	1:228400270	0	T	228400270	C	T	228400270	2	4	14	1	0	0	0	0	0	0	0	1	10880	639	23	1		1	OBSCN	1	228400270	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	53314053	228400270	20850351	7	1042											
RYR2	6262	broad.mit.edu	37	chr1	237632393	237632393	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatttcttcttttgcagcGgctctaattagaggaaatcg	8	8	4	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:237632393G>A	ENST00000366574.2	+	17	1931	c.1614G>A	c.(1612-1614)gcG>gcA	p.A538A	RYR2_ENST00000542537.1_Splice_Site_p.A522A|RYR2_ENST00000360064.6_Splice_Site_p.A536A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	538					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTTGCAGCGGCTCTAATTA	0.378													False	0	False	1:237632393	0	A	237632393	G	A	237632393	5	1	14	1	0	0	0	0	0	0	1	0	13848	1130	39	1	1680	1	RYR2	1	237632393	Splice_Site	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	9232123	237632393	11618228	8	1043											
CYP26B1	56603	broad.mit.edu	37	chr2	72359477	72359477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggggaccaaggtgatgCgggggaaggtccgtgtggcc	21	8	0	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:72359477C>T	ENST00000001146.2	-	6	1621	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	CYP26B1_ENST00000412253.1_Missense_Mutation_p.R282H|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R398H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	473			R -> C.		cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAAGGTGATGCGGGGGAAGGT	0.647													False	0	True	2:72359477	0	T	72359477	C	T	72359477	3	4	14	1	0	0	0	0	1	0	0	0	4181	768	27	1	124	1	CYP26B1	2	72359477	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08		72359477	170839896	9	1044											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	14	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-2J-AABV-01A-12D-A40W-08	25487888	97847365	145352008	10	1045											
TFCP2L1	29842	broad.mit.edu	37	chr2	122038752	122038752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggctggggacgtggcaGcacacaacacatattgcagg	13	11	1	0	rs12614667		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:122038752G>A	ENST00000263707.5	-	2	255	c.158C>T	c.(157-159)gCt>gTt	p.A53V		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	53					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GGACGTGGCAGCACACAACAC	0.622													False	0	True	2:122038752	0	A	122038752	G	A	122038752	3	1	14	1	0	0	0	0	1	0	0	0	15878	971	34	2	1337	2	TFCP2L1	2	122038752	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	24191387	122038752	121160621	11	1046											
SCN1A	6323	broad.mit.edu	37	chr2	166866301	166866301	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgagagatttgatggcTccaagttctgagtaacccaa	10	9	1	4			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:166866301T>A	ENST00000423058.2	-	20	3947	c.3930A>T	c.(3928-3930)ggA>ggT	p.G1310G	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.G1310G|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.G1299G|SCN1A_ENST00000409050.1_Silent_p.G1282G	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1310						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATTTGATGGCTCCAAGTTCTG	0.378													False	0	False	2:166866301	0	A	166866301	T	A	166866301	2	1	14	1	0	0	0	0	0	0	0	1	13995	1538	54	5		5	SCN1A	2	166866301	Silent	SNP	T	TCGA-2J-AABV-01A-12D-A40W-08	44827549	166866301	76333072	12	1047											
LRP2	4036	broad.mit.edu	37	chr2	170044544	170044544	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcagagtttcatcatctcGatgcagcgcccattgtcaca	8	12	4	1	rs143637076		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:170044544G>A	ENST00000263816.3	-	49	9549	c.9264C>T	c.(9262-9264)atC>atT	p.I3088I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3088	LDL-receptor class A 25.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.I3088I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCATCATCTCGATGCAGCGCC	0.512													False	0	False	2:170044544	0	A	170044544	G	A	170044544	2	1	14	1	0	0	0	0	0	0	0	1	9018	1048	37	1		1	LRP2	2	170044544	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	3178243	170044544	73154829	13	1048											
COL5A2	1290	broad.mit.edu	37	chr2	189945762	189945762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagccccaggaaatccaCgagctccctgggaggaaaac	12	13	0	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:189945762C>T	ENST00000374866.3	-	13	1134	c.860G>A	c.(859-861)cGt>cAt	p.R287H		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	287					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGGAAATCCACGAGCTCCCTG	0.413													False	0	False	2:189945762	0	T	189945762	C	T	189945762	3	4	14	1	0	0	0	0	1	0	0	0	3720	536	19	1	3807	1	COL5A2	2	189945762	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	19901218	189945762	53253611	14	1049											
ALS2	57679	broad.mit.edu	37	chr2	202606452	202606452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatgaccaaactcctggCttcctttaccccatgaagga	8	13	0	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:202606452C>T	ENST00000264276.6	-	11	2668	c.2296G>A	c.(2296-2298)Gcc>Acc	p.A766T	ALS2_ENST00000457679.2_Missense_Mutation_p.A78T	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	766	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AAACTCCTGGCTTCCTTTACC	0.488													False	0	False	2:202606452	0	T	202606452	C	T	202606452	3	4	14	1	0	0	0	0	1	0	0	0	550	797	28	2	2773	2	ALS2	2	202606452	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	12660690	202606452	40592921	15	1050											
STAB1	23166	broad.mit.edu	37	chr3	52544021	52544021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgggcccacagggctggCccagcactgccacctgcatg	13	16	0	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:52544021C>T	ENST00000321725.6	+	23	2559	c.2483C>T	c.(2482-2484)gCc>gTc	p.A828V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	828	EGF-like 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGGGCTGGCCCAGCACTGC	0.662													False	0	True	3:52544021	0	T	52544021	C	T	52544021	3	4	14	1	0	0	0	0	1	0	0	0	15319	739	26	2	2573	2	STAB1	3	52544021	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08		52544021	145478409	16	1051											
ROBO1	6091	broad.mit.edu	37	chr3	78655890	78655890	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attggatgagtaccttggatGagatgagtctttgctggtgg	15	4	1	3			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:78655890G>T	ENST00000436010.2	-	27	5617	c.4620C>A	c.(4618-4620)ctC>ctA	p.L1540L	ROBO1_ENST00000467549.1_Silent_p.L1479L|ROBO1_ENST00000495273.1_Silent_p.L1534L|ROBO1_ENST00000464233.1_Silent_p.L1579L|ROBO1_ENST00000466906.1_5'UTR			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1579					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TACCTTGGATGAGATGAGTCT	0.448													False	0	True	3:78655890	0	T	78655890	G	T	78655890	2	4	14	1	0	0	0	0	0	0	0	1	13592	1277	45	3		3	ROBO1	3	78655890	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	26111869	78655890	119366540	17	1052											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	11	14	1	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572													False	0	True	3:129370592	0	A	129370592	T	A	129370592	3	1	14	1	0	0	0	0	1	0	0	0	16074	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-2J-AABV-01A-12D-A40W-08	50714702	129370592	68651838	18	1053											
C3orf58	205428	broad.mit.edu	37	chr3	143704424	143704424	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttggccatttgcaaagtatCttggagcttgtggaagaatg	13	5	1	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:143704424C>G	ENST00000315691.3	+	2	1232	c.697C>G	c.(697-699)Ctt>Gtt	p.L233V	C3orf58_ENST00000495414.1_Missense_Mutation_p.L24V|C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	233						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCAAAGTATCTTGGAGCTTG	0.393													False	0	False	3:143704424	0	G	143704424	C	G	143704424	3	3	14	1	0	0	0	0	1	0	0	0	2252	913	32	5	737	5	C3orf58	3	143704424	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	14333832	143704424	54318006	19	1054											
PPM1L	151742	broad.mit.edu	37	chr3	160783197	160783197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctatttttcaggcacaaCgtgtttgattgctctgctat	7	9	3	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:160783197C>T	ENST00000498165.1	+	3	682	c.581C>T	c.(580-582)aCg>aTg	p.T194M	PPM1L_ENST00000295839.9_Missense_Mutation_p.T67M|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.T15M	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	194	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.T194K(1)|p.T15K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCAGGCACAACGTGTTTGATT	0.478													False	0	False	3:160783197	0	T	160783197	C	T	160783197	3	4	14	1	0	0	0	0	1	0	0	0	12418	536	19	1	591	1	PPM1L	3	160783197	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	17078773	160783197	37239233	20	1055											
ACOX3	8310	broad.mit.edu	37	chr4	8368698	8368698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccagtcccactagagcttcGatttcagacttcctatgaca	7	13	1	3			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:8368698G>A	ENST00000356406.5	-	18	2170	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	ACOX3_ENST00000413009.2_3'UTR|ACOX3_ENST00000503233.1_Missense_Mutation_p.S698L|ACOX3_ENST00000515797.1_5'UTR	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	698					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTAGAGCTTCGATTTCAGACT	0.517													False	0	False	4:8368698	0	A	8368698	G	A	8368698	3	1	14	1	0	0	0	0	1	0	0	0	160	1059	37	1	13	1	ACOX3	4	8368698	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08		8368698	182785578	21	1056											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984668	41984668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagagcaatgcctgatgGcatcagacatgactggaaag	12	7	1	5			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:41984668G>A	ENST00000333141.5	+	1	956	c.859G>A	c.(859-861)Gca>Aca	p.A287T		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	287										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						ATGCCTGATGGCATCAGACAT	0.532													False	0	False	4:41984668	0	A	41984668	G	A	41984668	3	1	14	1	0	0	0	0	1	0	0	0	4296	1203	42	2	861	2	DCAF4L1	4	41984668	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	33615970	41984668	149169608	22	1057											
GRID2	2895	broad.mit.edu	37	chr4	93511323	93511323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaaggatgatgaggtaTttcgcactgcggttggtgac	13	7	0	3			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:93511323T>C	ENST00000282020.4	+	2	388	c.130T>C	c.(130-132)Ttt>Ctt	p.F44L	GRID2_ENST00000510992.1_Missense_Mutation_p.F44L|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	44					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGATGAGGTATTTCGCACTGC	0.383													False	0	True	4:93511323	0	C	93511323	T	C	93511323	3	2	14	1	0	0	0	0	1	0	0	0	6819	1493	52	4	136	4	GRID2	4	93511323	Missense_Mutation	SNP	T	TCGA-2J-AABV-01A-12D-A40W-08	51526655	93511323	97642953	23	1058											
PDHA2	5161	broad.mit.edu	37	chr4	96762083	96762083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggatgttctgtgtgttcGtgaggcaacaaaatttgcag	12	5	1	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:96762083G>A	ENST00000295266.4	+	1	845	c.782G>A	c.(781-783)cGt>cAt	p.R261H		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	261					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTGTGTGTTCGTGAGGCAACA	0.473													False	0	False	4:96762083	0	A	96762083	G	A	96762083	3	1	14	1	0	0	0	0	1	0	0	0	11733	1145	40	1	784	1	PDHA2	4	96762083	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	3250760	96762083	94392193	24	1059											
ANKRD50	57182	broad.mit.edu	37	chr4	125599973	125599973	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacgtttgttcaccttcagtAatgttacacccttcatcaac	5	12	4	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:125599973A>T	ENST00000504087.1	-	3	1637	c.600T>A	c.(598-600)atT>atA	p.I200I	ANKRD50_ENST00000515641.1_Silent_p.I21I	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	200										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CACCTTCAGTAATGTTACACC	0.453													False	0	False	4:125599973	0	T	125599973	A	T	125599973	2	4	14	1	0	0	0	0	0	0	0	1	677	358	13	5		5	ANKRD50	4	125599973	Silent	SNP	A	TCGA-2J-AABV-01A-12D-A40W-08	28837890	125599973	65554303	25	1060											
CDH10	1008	broad.mit.edu	37	chr5	24511502	24511502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtcaaacatatcagtaccGtcaccatcaataattcggta	5	10	4	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:24511502G>T	ENST00000264463.4	-	6	1443	c.936C>A	c.(934-936)gaC>gaA	p.D312E		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	312	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TATCAGTACCGTCACCATCAA	0.438										HNSCC(23;0.051)			False	0	False	5:24511502	0	T	24511502	G	T	24511502	3	4	14	1	0	0	0	0	1	0	0	0	3119	1136	40	3	1458	3	CDH10	5	24511502	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08		24511502	156403758	26	1061											
RICTOR	253260	broad.mit.edu	37	chr5	38954899	38954899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttccaacaaatggcagcCtgttttatggtgtactagtt	8	8	0	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:38954899C>T	ENST00000357387.3	-	27	2704	c.2674G>A	c.(2674-2676)Ggc>Agc	p.G892S	RICTOR_ENST00000296782.5_Missense_Mutation_p.G892S|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	892					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AAATGGCAGCCTGTTTTATGG	0.313													False	0	False	5:38954899	0	T	38954899	C	T	38954899	3	4	14	1	0	0	0	0	1	0	0	0	13437	681	24	2	2500	2	RICTOR	5	38954899	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	14443397	38954899	141960361	27	1062											
PCDHA1	0	broad.mit.edu	37	chr5	140167494	140167494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgagcgcgcgggatgCgggcgtgccgcctctgggca	19	13	1	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:140167494C>T	ENST00000504120.2	+	1	1619	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGATGCGGGCGTGCCG	0.682													False	0	True	5:140167494	0	T	140167494	C	T	140167494	3	4	14	1	0	0	0	0	1	0	0	0	11587	768	27	1	1621	1	PCDHA1	5	140167494	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	101212595	140167494	40747766	28	1063											
PCDHGA3	0	broad.mit.edu	37	chr5	140723837	140723837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttttctctctgaatccGcaaagcggcagcttggtcac	9	13	3	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:140723837G>A	ENST00000253812.6	+	1	237	c.237G>A	c.(235-237)ccG>ccA	p.P79P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGAATCCGCAAAGCGGCA	0.587											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	5:140723837	0	A	140723837	G	A	140723837	2	1	14	1	0	0	0	0	0	0	0	1	11623	1074	38	1		1	PCDHGA3	5	140723837	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	556343	140723837	40191423	29	1064											
ADAMTS2	9509	broad.mit.edu	37	chr5	178562924	178562924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccctgcagtccccgcGcacacagaggctgaaggcgt	11	16	1	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:178562924G>A	ENST00000251582.7	-	13	2172	c.2071C>T	c.(2071-2073)Cgc>Tgc	p.R691C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	691	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGTCCCCGCGCACACAGAGG	0.637													False	0	True	5:178562924	0	A	178562924	G	A	178562924	3	1	14	1	0	0	0	0	1	0	0	0	265	1087	38	1	1604	1	ADAMTS2	5	178562924	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	37839087	178562924	2352336	30	1065											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	14	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-2J-AABV-01A-12D-A40W-08		7393450	163721617	31	1066											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184216	26184216	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccatggggatcatgaatTcctttgtcaacgacatcttc	8	10	3	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:26184216T>G	ENST00000356530.3	+	1	259	c.193T>G	c.(193-195)Tcc>Gcc	p.S65A		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						GATCATGAATTCCTTTGTCAA	0.587													False	0	False	6:26184216	0	G	26184216	T	G	26184216	3	3	14	1	0	0	0	0	1	0	0	0	7191	1783	62	4	195	4	HIST1H2BE	6	26184216	Missense_Mutation	SNP	T	TCGA-2J-AABV-01A-12D-A40W-08	18790766	26184216	144930851	32	1067											
KIAA0408	9729	broad.mit.edu	37	chr6	127768717	127768717	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtatcaattccacattttttCgtagaattgctctggagcac	7	9	2	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:127768717C>T	ENST00000483725.3	-	5	1083	c.747G>A	c.(745-747)acG>acA	p.T249T	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	249							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACATTTTTTCGTAGAATTGC	0.388													False	0	True	6:127768717	0	T	127768717	C	T	127768717	2	4	14	1	0	0	0	0	0	0	0	1	8224	871	31	1		1	KIAA0408	6	127768717	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	101584501	127768717	43346350	33	1068											
MLXIPL	51085	broad.mit.edu	37	chr7	73008307	73008307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggcgtagggagttcAggacagctgggtgggagaca	18	8	1	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:73008307A>G	ENST00000313375.3	-	17	2494	c.2447T>C	c.(2446-2448)cTg>cCg	p.L816P	MLXIPL_ENST00000434326.1_3'UTR|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L814P|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L795P|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L797P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L723P	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	816					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TAGGGAGTTCAGGACAGCTGG	0.607													False	0	False	7:73008307	0	G	73008307	A	G	73008307	3	3	14	1	0	0	0	0	1	0	0	0	9704	188	7	4	115	4	MLXIPL	7	73008307	Missense_Mutation	SNP	A	TCGA-2J-AABV-01A-12D-A40W-08		73008307	86130356	34	1069											
FAM167A	83648	broad.mit.edu	37	chr8	11301851	11301851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggctccggaggtggtcatCgggtggtgcggctgctcccg	18	12	1	0	rs146121515		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr8:11301851C>T	ENST00000284486.4	-	2	608	c.70G>A	c.(70-72)Gat>Aat	p.D24N	FAM167A_ENST00000528897.1_Missense_Mutation_p.D24N|FAM167A_ENST00000534308.1_Missense_Mutation_p.D24N	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	24										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						AGGTGGTCATCGGGTGGTGCG	0.647													False	0	True	8:11301851	0	T	11301851	C	T	11301851	3	4	14	1	0	0	0	0	1	0	0	0	5519	884	31	1	582	1	FAM167A	8	11301851	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08		11301851	135062171	35	1070											
RGS22	26166	broad.mit.edu	37	chr8	101083654	101083654	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agattatcttcttcagtggcAggaggtggtagactgggtgg	16	5	3	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr8:101083654A>G	ENST00000360863.6	-	6	731	c.537T>C	c.(535-537)ccT>ccC	p.P179P	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Silent_p.P179P	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	179					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTCAGTGGCAGGAGGTGGTA	0.398													False	0	False	8:101083654	0	G	101083654	A	G	101083654	2	3	14	1	0	0	0	0	0	0	0	1	13384	175	7	4		4	RGS22	8	101083654	Silent	SNP	A	TCGA-2J-AABV-01A-12D-A40W-08	89781803	101083654	45280368	36	1071											
ARHGAP22	58504	broad.mit.edu	37	chr10	49791051	49791051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagctgatccccacgcaGcacaaaccagcgctgctgcc	9	16	0	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:49791051G>A	ENST00000249601.4	-	2	477	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ARHGAP22_ENST00000435790.2_Silent_p.L67L|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000417912.2_Silent_p.L61L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	61	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCCACGCAGCACAAACCAG	0.607													False	0	False	10:49791051	0	A	49791051	G	A	49791051	2	1	14	1	0	0	0	0	0	0	0	1	874	962	34	2		2	ARHGAP22	10	49791051	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08		49791051	85743696	37	1072											
PPRC1	23082	broad.mit.edu	37	chr10	103907023	103907023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagggccgccgaggccGcaacagccgttctgtcagct	14	15	2	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:103907023G>A	ENST00000278070.2	+	9	4313	c.4274G>A	c.(4273-4275)cGc>cAc	p.R1425H	PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1425	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCCGAGGCCGCAACAGCCGT	0.627													False	0	False	10:103907023	0	A	103907023	G	A	103907023	3	1	14	1	0	0	0	0	1	0	0	0	12484	1087	38	1	4308	1	PPRC1	10	103907023	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	54115972	103907023	31627724	38	1073											
OR52E6	390078	broad.mit.edu	37	chr11	5862708	5862723	+	Frame_Shift_Del	DEL	GCTGGTGAGGATCATG	GCTGGTGAGGATCATG	-													gcaatgaggctgatgattttGctggtgaggatcatggtgta							TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	GCTGGTGAGGATCATG	GCTGGTGAGGATCATG	-	-	GCTGGTGAGGATCATG	GCTGGTGAGGATCATG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:5862708_5862723delGCTGGTGAGGATCATG	ENST00000329322.5	-	1	404_419	c.405_420delCATGATCCTCACCAGC	c.(403-420)accatgatcctcaccagcfs	p.TMILTS135fs	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Frame_Shift_Del_p.TMILTS139fs	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T143T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGATTTTGCTGGTGAGGATCATGGTGTACCAAA	0.477													False	1	False	11:5862708	0	-	5862723	GCTGGTGAGGATCATG	-	5862708	7	5	14	1	0	1	0	1	0	0	0	0	11185	1310	46	0	523	0	OR52E6	11	5862708	Frame_Shift_Del	DEL	GCTGGTGAGGATCATG	TCGA-2J-AABV-01A-12D-A40W-08		5862708	129143808	39	1074											
PACS1	55690	broad.mit.edu	37	chr11	66009102	66009102	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accatggccatgactgtggtCaccaaagaaaagaacaagaa	9	9	1	4			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:66009102C>T	ENST00000320580.4	+	22	2667	c.2634C>T	c.(2632-2634)gtC>gtT	p.V878V	PACS1_ENST00000524815.1_Silent_p.V6V|PACS1_ENST00000529757.1_Silent_p.V414V	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	878					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGACTGTGGTCACCAAAGAAA	0.582													False	0	False	11:66009102	0	T	66009102	C	T	66009102	2	4	14	1	0	0	0	0	0	0	0	1	11440	813	29	2		2	PACS1	11	66009102	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	60146394	66009102	68997414	40	1075											
ATM	472	broad.mit.edu	37	chr11	108178642	108178642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtcagagcactttttccGatgctgtttggataaaaaat	9	6	1	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:108178642G>A	ENST00000278616.4	+	38	6078	c.5693G>A	c.(5692-5694)cGa>cAa	p.R1898Q	ATM_ENST00000452508.2_Missense_Mutation_p.R1898Q	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1898					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CACTTTTTCCGATGCTGTTTG	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			False	0	False	11:108178642	0	A	108178642	G	A	108178642	3	1	14	1	0	0	0	0	1	0	0	0	1113	1058	37	1	5839	1	ATM	11	108178642	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	42169540	108178642	26827874	41	1076											
ARHGEF12	23365	broad.mit.edu	37	chr11	120352231	120352231	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctcttgtgcagattcacaGagccagatcatggagtacat	9	10	3	3			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:120352231G>A	ENST00000397843.2	+	39	4666	c.4500G>A	c.(4498-4500)caG>caA	p.Q1500Q	ARHGEF12_ENST00000532993.1_Silent_p.Q1397Q|ARHGEF12_ENST00000356641.3_Silent_p.Q1481Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1500					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAGATTCACAGAGCCAGATCA	0.458			T	MLL	AML								False	0	False	11:120352231	0	A	120352231	G	A	120352231	2	1	14	1	0	0	0	0	0	0	0	1	899	933	33	2		2	ARHGEF12	11	120352231	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	12173589	120352231	14654285	42	1077											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	14	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08		25398284	108453611	43	1078											
RAPGEF3	10411	broad.mit.edu	37	chr12	48144186	48144186	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcaaagatgaggtccagctCttcatccgtgcgctgacctg	10	13	3	3			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:48144186C>T	ENST00000405493.2	-	7	777	c.568G>A	c.(568-570)Gag>Aag	p.E190K	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.E232K|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.E190K|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.E232K|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.E190K|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.E232K|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.E190K	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	190					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGGTCCAGCTCTTCATCCGTG	0.647													False	0	False	12:48144186	0	T	48144186	C	T	48144186	3	4	14	1	0	0	0	0	1	0	0	0	13124	922	32	2	2165	2	RAPGEF3	12	48144186	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	22745902	48144186	85707709	44	1079											
DDN	23109	broad.mit.edu	37	chr12	49391585	49391585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatctgggagcgggatgCggggcacagggagccgcagt	20	9	1	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:49391585C>T	ENST00000421952.2	-	2	1095	c.1074G>A	c.(1072-1074)ccG>ccA	p.P358P		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	358	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GAGCGGGATGCGGGGCACAGG	0.597													False	0	True	12:49391585	0	T	49391585	C	T	49391585	2	4	14	1	0	0	0	0	0	0	0	1	4358	755	27	1		1	DDN	12	49391585	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	1247399	49391585	84460310	45	1080											
SCN8A	6334	broad.mit.edu	37	chr12	52145205	52145205	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaacactttcctcatctGggagtgccacccctactgga	8	15	2	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:52145205G>A	ENST00000354534.6	+	14	2376	c.2198G>A	c.(2197-2199)tGg>tAg	p.W733*	SCN8A_ENST00000550891.1_Nonsense_Mutation_p.W733*|SCN8A_ENST00000545061.1_Nonsense_Mutation_p.W733*	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TTCCTCATCTGGGAGTGCCAC	0.443													False	0	True	12:52145205	0	A	52145205	G	A	52145205	4	1	14	1	0	0	0	0	0	1	0	0	14005	1357	47	2	2248	2	SCN8A	12	52145205	Nonsense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	2753620	52145205	81706690	46	1081											
DGKA	1606	broad.mit.edu	37	chr12	56333270	56333270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtctactgcaatctgtgCgagtcaagcattggtcttgg	11	10	4	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:56333270C>T	ENST00000331886.5	+	9	1120	c.666C>T	c.(664-666)tgC>tgT	p.C222C	DGKA_ENST00000394147.1_Silent_p.C222C|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.C222C	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	222					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GCAATCTGTGCGAGTCAAGCA	0.557													False	0	False	12:56333270	0	T	56333270	C	T	56333270	2	4	14	1	0	0	0	0	0	0	0	1	4495	776	27	1		1	DGKA	12	56333270	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	4188065	56333270	77518625	47	1082											
METTL3	56339	broad.mit.edu	37	chr14	21967676	21967676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcaaccagtgacctgtaCggcctgtccgaatgatgcgt	12	11	1	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:21967676C>T	ENST00000298717.4	-	8	1563	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	471					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GTGACCTGTACGGCCTGTCCG	0.443													False	0	False	14:21967676	0	T	21967676	C	T	21967676	3	4	14	1	0	0	0	0	1	0	0	0	9568	536	19	1	346	1	METTL3	14	21967676	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08		21967676	85381864	48	1083											
ALKBH1	8846	broad.mit.edu	37	chr14	78174236	78174236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaccccttccaggtctgCggtcccgggccggctctgac	13	16	2	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:78174236C>T	ENST00000216489.3	-	1	127	c.112G>A	c.(112-114)Gca>Aca	p.A38T		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	38					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCCAGGTCTGCGGTCCCGGGC	0.672													False	0	False	14:78174236	0	T	78174236	C	T	78174236	3	4	14	1	0	0	0	0	1	0	0	0	526	768	27	1	1081	1	ALKBH1	14	78174236	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	56206560	78174236	29175304	49	1084											
HERC2	8924	broad.mit.edu	37	chr15	28370319	28370319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagttgtccctcatcattgtCgccccatgtataaacctcac	5	15	3	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr15:28370319C>T	ENST00000261609.7	-	84	12931	c.12823G>A	c.(12823-12825)Gac>Aac	p.D4275N		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4275					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATCATTGTCGCCCCATGTA	0.522													False	0	False	15:28370319	0	T	28370319	C	T	28370319	3	4	14	1	0	0	0	0	1	0	0	0	7105	884	31	1	1721	1	HERC2	15	28370319	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08		28370319	74161073	50	1085											
UNC13C	440279	broad.mit.edu	37	chr15	54305604	54305604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgagggcagctctgaCggggagcgtactctacatgg	14	12	3	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr15:54305604C>T	ENST00000545554.1	+	1	504	c.504C>T	c.(502-504)gaC>gaT	p.D168D	UNC13C_ENST00000260323.11_Silent_p.D168D|UNC13C_ENST00000537900.1_Silent_p.D168D			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	168					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCAGCTCTGACGGGGAGCGTA	0.473													False	0	True	15:54305604	0	T	54305604	C	T	54305604	2	4	14	1	0	0	0	0	0	0	0	1	17070	535	19	1		1	UNC13C	15	54305604	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	25935285	54305604	48225788	51	1086											
CX3CL1	6376	broad.mit.edu	37	chr16	57413650	57413650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagaaccaggcatcatgcGgcaaacgcgcaatcatgtag	10	11	2	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:57413650G>A	ENST00000565912.1	+	1	2767	c.61G>A	c.(61-63)Ggc>Agc	p.G21S	CX3CL1_ENST00000563383.1_Missense_Mutation_p.G65S|CX3CL1_ENST00000006053.6_Missense_Mutation_p.G59S|CX3CL1_ENST00000564948.1_Intron			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	59					cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	p.G59C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCATCATGCGGCAAACGCGC	0.512													False	0	False	16:57413650	0	A	57413650	G	A	57413650	3	1	14	1	0	0	0	0	1	0	0	0	4099	1116	39	1	181	1	CX3CL1	16	57413650	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08		57413650	32941103	52	1087											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	9	16	3	0	rs28934574		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			False	0	False	17:7577094	0	A	7577094	G	A	7577094	3	1	14	1	0	0	0	0	1	0	0	0	16464	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08		7577094	73618116	53	1088											
VAMP2	6844	broad.mit.edu	37	chr17	8064816	8064816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgatgaggatgatggcGcaaatcactcccaagatgat	11	7	1	6			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:8064816G>A	ENST00000316509.6	-	4	404	c.309C>T	c.(307-309)tgC>tgT	p.C103C	VAMP2_ENST00000481878.1_Silent_p.C103C|VAMP2_ENST00000404970.3_Silent_p.C58C|RP11-599B13.6_ENST00000498285.1_Silent_p.C103C|VAMP2_ENST00000488857.1_Silent_p.C105C	NM_014232.2	NP_055047.2	P63027	VAMP2_HUMAN	vesicle-associated membrane protein 2 (synaptobrevin 2)	103					energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to plasma membrane|synaptic vesicle membrane|synaptosome										Botulinum Toxin Type B(DB00042)	GGATGATGGCGCAAATCACTC	0.517													False	0	False	17:8064816	0	A	8064816	G	A	8064816	2	1	14	1	0	0	0	0	0	0	0	1	17197	1079	38	1		1	VAMP2	17	8064816	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	487722	8064816	73130394	54	1089											
KRTAP9-2	83899	broad.mit.edu	37	chr17	39383115	39383115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacctgctgccagcccaCctgtgtgaccagctgctgcc	10	18	0	1	rs141998127	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:39383115C>T	ENST00000377721.3	+	1	216	c.209C>T	c.(208-210)aCc>aTc	p.T70I	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.T70I	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	70	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCCACCTGTGTGACC	0.652													False	0	False	17:39383115	0	T	39383115	C	T	39383115	3	4	14	1	0	0	0	0	1	0	0	0	8624	507	18	2	211	2	KRTAP9-2	17	39383115	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	31318299	39383115	41812095	55	1090											
KRT33A	3883	broad.mit.edu	37	chr17	39506938	39506938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccgggcagggtgcagcCgtggcagctggggggcacac	20	13	0	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:39506938C>T	ENST00000007735.3	-	1	126	c.82G>A	c.(82-84)Ggc>Agc	p.G28S		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	28	Head.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				AGGGTGCAGCCGTGGCAGCTG	0.642													False	0	False	17:39506938	0	T	39506938	C	T	39506938	3	4	14	1	0	0	0	0	1	0	0	0	8519	652	23	1	1160	1	KRT33A	17	39506938	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	123823	39506938	41688272	56	1091											
USP32	84669	broad.mit.edu	37	chr17	58289395	58289395	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagacttacccttgtgtctAtctattttactactatttgc	6	9	2	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:58289395A>G	ENST00000300896.4	-	19	2363	c.2169T>C	c.(2167-2169)gaT>gaC	p.D723D	USP32_ENST00000592339.1_Silent_p.D393D	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	723					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCTTGTGTCTATCTATTTTAC	0.308													False	0	True	17:58289395	0	G	58289395	A	G	58289395	2	3	14	1	0	0	0	0	0	0	0	1	17147	446	16	4		4	USP32	17	58289395	Silent	SNP	A	TCGA-2J-AABV-01A-12D-A40W-08	18782457	58289395	22905815	57	1092											
HN1	51155	broad.mit.edu	37	chr17	73132223	73132223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagacgaggctggacttgcCgccagggggatttcttctgg	15	10	2	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:73132223C>T	ENST00000476258.1	-	5	1408	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	HN1_ENST00000482348.1_Missense_Mutation_p.G101S|HN1_ENST00000409753.3_Missense_Mutation_p.G147S|HN1_ENST00000392566.2_Missense_Mutation_p.G101S|HN1_ENST00000470924.1_Missense_Mutation_p.G101S|HN1_ENST00000356033.4_Silent_p.A140A|HN1_ENST00000481647.1_Missense_Mutation_p.G101S|HN1_ENST00000405458.3_Missense_Mutation_p.G101S			Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	147						nucleus			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CTGGACTTGCCGCCAGGGGGA	0.617													False	0	False	17:73132223	0	T	73132223	C	T	73132223	3	4	14	1	0	0	0	0	1	0	0	0	7296	652	23	1	129	1	HN1	17	73132223	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	14842828	73132223	8062987	58	1093											
ZNRF4	148066	broad.mit.edu	37	chr19	5456659	5456659	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggccccccatctgggccaTtcaagtccagctacgctccc	8	20	2	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:5456659T>C	ENST00000222033.4	+	1	1234	c.1157T>C	c.(1156-1158)aTt>aCt	p.I386T		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	386						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ATCTGGGCCATTCAAGTCCAG	0.662													False	0	False	19:5456659	0	C	5456659	T	C	5456659	3	2	14	1	0	0	0	0	1	0	0	0	18296	1493	52	4	1159	4	ZNRF4	19	5456659	Missense_Mutation	SNP	T	TCGA-2J-AABV-01A-12D-A40W-08		5456659	53672324	59	1094											
OR7G3	390883	broad.mit.edu	37	chr19	9236903	9236903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaacgattaaatgtgaccCgcagatggaaaaagctttat	8	7	0	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:9236903C>A	ENST00000305444.2	-	1	723	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AAATGTGACCCGCAGATGGAA	0.448													False	0	True	19:9236903	0	A	9236903	C	A	9236903	3	1	14	1	0	0	0	0	1	0	0	0	11292	652	23	3	217	3	OR7G3	19	9236903	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	3780244	9236903	49892080	60	1095											
TYK2	7297	broad.mit.edu	37	chr19	10463185	10463185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaggaccagacatctgaCgcatagtagaacttatactc	8	11	1	3			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:10463185C>T	ENST00000525621.1	-	23	3724	c.3243G>A	c.(3241-3243)gcG>gcA	p.A1081A	TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Silent_p.A1081A|TYK2_ENST00000524462.1_Silent_p.A896A	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1081	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGACATCTGACGCATAGTAGA	0.637													False	0	False	19:10463185	0	T	10463185	C	T	10463185	2	4	14	1	0	0	0	0	0	0	0	1	16894	523	19	1		1	TYK2	19	10463185	Silent	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08	1226282	10463185	48665798	61	1096											
HRC	3270	broad.mit.edu	37	chr19	49657755	49657755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatcatcatcatcatcgTcatcttcttcatggccttgg	5	13	9	0			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:49657755T>C	ENST00000252825.4	-	1	926	c.740A>G	c.(739-741)gAc>gGc	p.D247G	HRC_ENST00000595625.1_Missense_Mutation_p.D247G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	247	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Asp-rich (acidic).				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		atcatcatcgtcatcttcttc	0.507													False	0	False	19:49657755	0	C	49657755	T	C	49657755	3	2	14	1	0	0	0	0	1	0	0	0	7399	1667	58	4	1383	4	HRC	19	49657755	Missense_Mutation	SNP	T	TCGA-2J-AABV-01A-12D-A40W-08	39194570	49657755	9471228	62	1097											
LRRC4B	94030	broad.mit.edu	37	chr19	51021882	51021882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctccacgatgacgggcGcatagcaggtgaaatgcgac	15	11	0	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:51021882G>A	ENST00000599957.1	-	3	1285	c.1088C>T	c.(1087-1089)gCg>gTg	p.A363V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.A363V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	363	LRRCT.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GATGACGGGCGCATAGCAGGT	0.667													False	0	False	19:51021882	0	A	51021882	G	A	51021882	3	1	14	1	0	0	0	0	1	0	0	0	9069	1087	38	1	1057	1	LRRC4B	19	51021882	Missense_Mutation	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08	1364127	51021882	8107101	63	1098											
ZHX3	23051	broad.mit.edu	37	chr20	39833205	39833205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccctcaggggtttttgCcagaaaactgcacccactgc	9	14	1	1			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr20:39833205C>T	ENST00000309060.3	-	4	767	c.352G>A	c.(352-354)Gca>Aca	p.A118T	ZHX3_ENST00000544979.2_Missense_Mutation_p.A118T|ZHX3_ENST00000560361.1_Missense_Mutation_p.A118T|ZHX3_ENST00000559234.1_Missense_Mutation_p.A118T|ZHX3_ENST00000557816.1_Missense_Mutation_p.A118T|ZHX3_ENST00000558993.1_Missense_Mutation_p.A118T|ZHX3_ENST00000432768.2_Missense_Mutation_p.A118T|ZHX3_ENST00000540170.1_Missense_Mutation_p.A118T			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	118					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGGTTTTTGCCAGAAAACTG	0.493													False	0	False	20:39833205	0	T	39833205	C	T	39833205	3	4	14	1	0	0	0	0	1	0	0	0	17760	739	26	2	2526	2	ZHX3	20	39833205	Missense_Mutation	SNP	C	TCGA-2J-AABV-01A-12D-A40W-08		39833205	23192315	64	1099											
TRAPPC10	7109	broad.mit.edu	37	chr21	45503147	45503147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcagccacgtgaccctGgaaccaggggccaaccagat	13	13	0	2			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr21:45503147G>A	ENST00000291574.4	+	14	2377	c.2202G>A	c.(2200-2202)ctG>ctA	p.L734L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	734					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ACGTGACCCTGGAACCAGGGG	0.572													False	0	False	21:45503147	0	A	45503147	G	A	45503147	2	1	14	1	0	0	0	0	0	0	0	1	16540	1335	47	2		2	TRAPPC10	21	45503147	Silent	SNP	G	TCGA-2J-AABV-01A-12D-A40W-08		45503147	2626748	65	1100											
TBX22	50945	broad.mit.edu	37	chrX	79282761	79282761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgaatccatagattacgAaactaaaaatagaaagaaat	5	4	0	4			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chrX:79282761A>G	ENST00000442340.1	+	7	935	c.445A>G	c.(445-447)Aaa>Gaa	p.K149E	TBX22_ENST00000373296.3_Missense_Mutation_p.K269E|TBX22_ENST00000373291.1_Missense_Mutation_p.K149E|TBX22_ENST00000373294.5_Missense_Mutation_p.K269E	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	269					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATAGATTACGAAACTAAAAAT	0.348													False	0	True	X:79282761	0	G	79282761	A	G	79282761	3	3	14	1	0	0	0	0	1	0	0	0	15740	247	9	4	827	4	TBX22	23	79282761	Missense_Mutation	SNP	A	TCGA-2J-AABV-01A-12D-A40W-08		79282761	75987799	66	1101											
DHRS3	9249	broad.mit.edu	37	chr1	12640598	12640599	+	In_Frame_Ins	INS	-	-	AGACGGCCAAGG													tacacctcctcccggttgccINScacatcacagatgaagtaat							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:12640598_12640599insAGACGGCCAAGG	ENST00000376223.2	-	2	674_675	c.291_292insCCTTGGCCGTCT	c.(289-294)gtgggc>gtgCCTTGGCCGTCTggc	p.97_98VG>VPWPSG	DHRS3_ENST00000482265.1_5'UTR	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	97					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCCCGGTTGCCCACATCACAGA	0.579													False	0	True	1:12640598	0	AGACGGCCAAGG	12640599	-	AGACGGCCAAGG	12640598	7	5	15	1	0	1	1	0	0	0	0	0	4521	623	22	0	636	0	DHRS3	1	12640598	In_Frame_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08		12640598	236610023	1	1102											
SLC6A9	6536	broad.mit.edu	37	chr1	44474177	44474178	+	Frame_Shift_Del	DEL	GT	GT	-													gtgttccaggggttattgcaGtaggcccagggcagcacgtg							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:44474177_44474178delGT	ENST00000372307.3	-	4	569_570	c.242_243delAC	c.(241-243)tacfs	p.Y81fs	SLC6A9_ENST00000537678.1_Frame_Shift_Del_p.Y81fs|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.Y146fs|SLC6A9_ENST00000372310.3_Frame_Shift_Del_p.Y146fs|SLC6A9_ENST00000360584.2_Frame_Shift_Del_p.Y219fs|SLC6A9_ENST00000475075.2_Frame_Shift_Del_p.Y35fs|SLC6A9_ENST00000357730.2_Frame_Shift_Del_p.Y165fs			P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	219						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGTTATTGCAGTAGGCCCAGGG	0.584													False	1	False	1:44474177	0	-	44474178	GT	-	44474177	7	5	15	1	0	1	0	1	0	0	0	0	14771	1024	36	0	1503	0	SLC6A9	1	44474177	Frame_Shift_Del	DEL	GT	TCGA-2L-AAQA-01A-21D-A38G-08	31833579	44474177	204776444	2	1103											
RAB3B	5865	broad.mit.edu	37	chr1	52385758	52385759	+	In_Frame_Ins	INS	-	-	CTG													gccttacactgatgttctccINStttgcactggcttcaaagaa							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:52385758_52385759insCTG	ENST00000371655.3	-	5	712_713	c.500_501insCAG	c.(499-501)aag>aaCAGg	p.167_167K>NR		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	167					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						TGATGTTCTCCTTTGCACTGGC	0.52													False	0	True	1:52385758	0	CTG	52385759	-	CTG	52385758	7	5	15	1	0	1	1	0	0	0	0	0	13011	680	24	0	162	0	RAB3B	1	52385758	In_Frame_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	7911581	52385758	196864863	3	1104											
FOXD3	27022	broad.mit.edu	37	chr1	63790114	63790131	+	In_Frame_Del	DEL	CGGCCGCCGCCGCTGCTG	CGGCCGCCGCCGCTGCTG	-													gtttctgcagcccgcagcctCggccgccgccgctgctgcgg							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	CGGCCGCCGCCGCTGCTG	CGGCCGCCGCCGCTGCTG	-	-	CGGCCGCCGCCGCTGCTG	CGGCCGCCGCCGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:63790114_63790131delCGGCCGCCGCCGCTGCTG	ENST00000371116.2	+	1	1385_1402	c.1385_1402delCGGCCGCCGCCGCTGCTG	c.(1384-1404)tcggccgccgccgctgctgcg>tcg	p.AAAAAA463del		NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	463	Poly-Ala.				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						Cccgcagcctcggccgccgccgctgctgcggccgccgc	0.697													False	1	True	1:63790114	0	-	63790131	CGGCCGCCGCCGCTGCTG	-	63790114	7	5	15	1	0	1	0	1	0	0	0	0	6038	893	31	0	1387	0	FOXD3	1	63790114	In_Frame_Del	DEL	CGGCCGCCGCCGCTGCTG	TCGA-2L-AAQA-01A-21D-A38G-08	11404356	63790114	185460507	4	1105											
NEGR1	257194	broad.mit.edu	37	chr1	72076799	72076800	+	Frame_Shift_Ins	INS	-	-	T													gcgtccgggggtcacggtgcINScagatttaatttcctgaata							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:72076799_72076800insT	ENST00000357731.4	-	5	936_937	c.697_698insA	c.(697-699)ggcfs	p.G233fs	NEGR1_ENST00000306821.3_Frame_Shift_Ins_p.G105fs|NEGR1_ENST00000434200.1_Frame_Shift_Ins_p.G187fs	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	233	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGTCACGGTGCCAGATTTAATT	0.431													False	0	False	1:72076799	0	T	72076800	-	T	72076799	7	5	15	1	0	1	1	0	0	0	0	0	10385	739	26	0	378	0	NEGR1	1	72076799	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	8286685	72076799	177173822	5	1106	8	2									
NEGR1	257194	broad.mit.edu	37	chr1	72076800	72076801	+	Frame_Shift_Ins	INS	-	-	AGTAGGGG													cgtccgggggtcacggtgccINSagatttaatttcctgaatag							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:72076800_72076801insAGTAGGGG	ENST00000357731.4	-	5	935_936	c.696_697insCCCCTACT	c.(694-699)tctggcfs	p.G233fs	NEGR1_ENST00000306821.3_Frame_Shift_Ins_p.G105fs|NEGR1_ENST00000434200.1_Frame_Shift_Ins_p.G187fs	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	233	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GTCACGGTGCCAGATTTAATTT	0.431													False	0	False	1:72076800	0	AGTAGGGG	72076801	-	AGTAGGGG	72076800	7	5	15	1	0	1	1	0	0	0	0	0	10385	594	21	0	379	0	NEGR1	1	72076800	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	1	72076800	177173821	6	1107	8	2									
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77510070	77510071	+	Frame_Shift_Ins	INS	-	-	AGCAGTGTCAAGAA													agggtcatcgcgcattccagINScatccagaggatcctccgca							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:77510070_77510071insAGCAGTGTCAAGAA	ENST00000477717.1	+	3	678_679	c.443_444insAGCAGTGTCAAGAA	c.(442-447)agcatcfs	p.SI148fs		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	148					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCGCATTCCAGCATCCAGAGGA	0.634													False	0	False	1:77510070	0	AGCAGTGTCAAGAA	77510071	-	AGCAGTGTCAAGAA	77510070	7	5	15	1	0	1	1	0	0	0	0	0	15309	971	34	0	453	0	ST6GALNAC5	1	77510070	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	5433270	77510070	171740551	7	1108											
COL24A1	255631	broad.mit.edu	37	chr1	86590761	86590761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggttgcatttccatgagttCgttagtgtgtagatttgctg	12	5	0	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:86590761C>T	ENST00000370571.2	-	3	1624	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	420					cell adhesion	collagen	extracellular matrix structural constituent	p.E420*(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCATGAGTTCGTTAGTGTGT	0.358													False	0	False	1:86590761	0	T	86590761	C	T	86590761	3	4	15	1	0	0	0	0	1	0	0	0	3706	893	31	1	4118	1	COL24A1	1	86590761	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	9080691	86590761	162659860	8	1109											
AGL	178	broad.mit.edu	37	chr1	100336383	100336383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaatttttccaagtagatGtcaacaaagcggttgagcaa	11	6	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:100336383G>A	ENST00000294724.4	+	7	1394	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	AGL_ENST00000370161.2_Missense_Mutation_p.V290I|AGL_ENST00000370165.3_Missense_Mutation_p.V306I|AGL_ENST00000370163.3_Missense_Mutation_p.V306I|AGL_ENST00000361915.3_Missense_Mutation_p.V306I|AGL_ENST00000361302.3_Missense_Mutation_p.V290I|AGL_ENST00000361522.4_Missense_Mutation_p.V289I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	306					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CCAAGTAGATGTCAACAAAGC	0.303													False	0	False	1:100336383	0	A	100336383	G	A	100336383	3	1	15	1	0	0	0	0	1	0	0	0	384	1377	48	2	1007	2	AGL	1	100336383	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	13745622	100336383	148914238	9	1110											
AP4B1	10717	broad.mit.edu	37	chr1	114445373	114445373	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatctggtttcaggggagcAtatgtgcacatgtacagata	12	6	2	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:114445373A>G	ENST00000369569.1	-	2	505	c.225T>C	c.(223-225)taT>taC	p.Y75Y	AP4B1_ENST00000256658.4_Silent_p.Y75Y|AP4B1_ENST00000369566.3_Silent_p.Y75Y|AP4B1_ENST00000369567.1_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	75					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGGGGAGCATATGTGCACA	0.498													False	0	False	1:114445373	0	G	114445373	A	G	114445373	2	3	15	1	0	0	0	0	0	0	0	1	753	224	8	4		4	AP4B1	1	114445373	Silent	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	14108990	114445373	134805248	10	1111											
ASTN1	460	broad.mit.edu	37	chr1	176833536	176833536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtccgtagggtttgatctCgctgtagcggcaccccaggt	13	11	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:176833536C>T	ENST00000367654.2	-	23	3806	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	ASTN1_ENST00000361833.2_Missense_Mutation_p.E1257K|ASTN1_ENST00000367657.3_Intron			O14525	ASTN1_HUMAN	astrotactin 1	1265					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTTTGATCTCGCTGTAGCGG	0.587													False	0	False	1:176833536	0	T	176833536	C	T	176833536	3	4	15	1	0	0	0	0	1	0	0	0	1068	893	31	1	119	1	ASTN1	1	176833536	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	62388163	176833536	72417085	11	1112											
TRIB2	28951	broad.mit.edu	37	chr2	12858610	12858610	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacttgtcgcattgcgtttcTtgtatcgggaaatacttatt	8	7	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:12858610T>G	ENST00000155926.4	+	1	1596	c.177T>G	c.(175-177)tcT>tcG	p.S59S	TRIB2_ENST00000381465.2_Intron|TRIB2_ENST00000405331.3_Silent_p.S59S	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	59					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATTGCGTTTCTTGTATCGGGA	0.567											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:12858610	0	G	12858610	T	G	12858610	2	3	15	1	0	0	0	0	0	0	0	1	16566	1596	56	4		4	TRIB2	2	12858610	Silent	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08		12858610	230340763	12	1113											
PPM1G	5496	broad.mit.edu	37	chr2	27607706	27607706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggcctgcctcagtcccaCgttccgagttggaggaaaag	12	12	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:27607706C>T	ENST00000344034.4	-	5	923	c.659G>A	c.(658-660)cGt>cAt	p.R220H	PPM1G_ENST00000350803.4_Missense_Mutation_p.R220H	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	220					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTCAGTCCCACGTTCCGAGTT	0.572													False	0	False	2:27607706	0	T	27607706	C	T	27607706	3	4	15	1	0	0	0	0	1	0	0	0	12414	536	19	1	1005	1	PPM1G	2	27607706	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	14749096	27607706	215591667	13	1114											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105915152	105915153	+	In_Frame_Ins	INS	-	-	TCCTTTCCATAC													gggatatccctgcgactgtgINSgcaaacatgcctagaagtaa							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:105915152_105915153insTCCTTTCCATAC	ENST00000393359.2	-	3	1124_1125	c.698_699insGTATGGAAAGGA	c.(697-699)gcc>gcGTATGGAAAGGAc	p.233_234insYGKD	TGFBRAP1_ENST00000258449.1_In_Frame_Ins_p.233_234insYGKD			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	233	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTGCGACTGTGGCAAACATGCC	0.53													False	0	False	2:105915152	0	TCCTTTCCATAC	105915153	-	TCCTTTCCATAC	105915152	7	5	15	1	0	1	1	0	0	0	0	0	15906	1335	47	0	1923	0	TGFBRAP1	2	105915152	In_Frame_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	78307446	105915152	137284221	14	1115											
UXS1	80146	broad.mit.edu	37	chr2	106710580	106710580	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagttctttacggaagtagtGaattgctttgtttaaacctt	9	5	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:106710580G>A	ENST00000283148.7	-	15	1277	c.1180C>T	c.(1180-1182)Cac>Tac	p.H394Y	UXS1_ENST00000409501.3_Missense_Mutation_p.H389Y|UXS1_ENST00000409032.1_Missense_Mutation_p.H221Y|UXS1_ENST00000540130.1_Missense_Mutation_p.H332Y	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	389					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CGGAAGTAGTGAATTGCTTTG	0.473													False	0	False	2:106710580	0	A	106710580	G	A	106710580	3	1	15	1	0	0	0	0	1	0	0	0	17193	1290	45	2	101	2	UXS1	2	106710580	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	795428	106710580	136488793	15	1116											
INHBB	3625	broad.mit.edu	37	chr2	121106698	121106698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgcctcctcccgggtcCgcctatacttcttcatctcc	6	20	3	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:121106698C>T	ENST00000295228.3	+	2	518	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	158					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CTCCCGGGTCCGCCTATACTT	0.557													False	0	False	2:121106698	0	T	121106698	C	T	121106698	3	4	15	1	0	0	0	0	1	0	0	0	7792	652	23	1	478	1	INHBB	2	121106698	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	14396118	121106698	122092675	16	1117											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135888166	135888166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaaaattgacagagccgGcatcagttccaattcataaa	7	9	3	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:135888166G>A	ENST00000264158.8	+	13	1154	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A327T|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A371T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	371						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GACAGAGCCGGCATCAGTTCC	0.348													False	0	False	2:135888166	0	A	135888166	G	A	135888166	3	1	15	1	0	0	0	0	1	0	0	0	13014	1203	42	2	1161	2	RAB3GAP1	2	135888166	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	14781468	135888166	107311207	17	1118											
ITGA6	0	broad.mit.edu	37	chr2	173333979	173333979	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgatatggatgggggagatTggagcttttgtgatgggcga	18	3	0	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:173333979T>A	ENST00000375221.2	+	4	717	c.514T>A	c.(514-516)Tgg>Agg	p.W172R	ITGA6_ENST00000409532.1_Missense_Mutation_p.W58R|ITGA6_ENST00000409080.1_Missense_Mutation_p.W172R|ITGA6_ENST00000264107.7_Missense_Mutation_p.W172R|ITGA6_ENST00000264106.6_Missense_Mutation_p.W172R|ITGA6_ENST00000343713.4_Missense_Mutation_p.W172R			P23229	ITA6_HUMAN	integrin, alpha 6	172					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGGGGGAGATTGGAGCTTTTG	0.448													False	0	False	2:173333979	0	A	173333979	T	A	173333979	3	1	15	1	0	0	0	0	1	0	0	0	7930	1812	63	5	528	5	ITGA6	2	173333979	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	37445813	173333979	69865394	18	1119											
SNED1	25992	broad.mit.edu	37	chr2	241976286	241976287	+	Frame_Shift_Ins	INS	-	-	CTTTCTT													tcacgggcaacccctcctacINSacctgctcctgcctctcggg							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:241976286_241976287insCTTTCTT	ENST00000310397.8	+	5	885_886	c.885_886insCTTTCTT	c.(886-888)accfs	p.T296fs	SNED1_ENST00000401884.1_Frame_Shift_Ins_p.T296fs|SNED1_ENST00000405547.3_Frame_Shift_Ins_p.T296fs|SNED1_ENST00000342631.6_Frame_Shift_Ins_p.T296fs|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	296	EGF-like 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		ACCCCTCCTACACCTGCTCCTG	0.703													False	0	False	2:241976286	0	CTTTCTT	241976287	-	CTTTCTT	241976286	7	5	15	1	0	1	1	0	0	0	0	0	14925	489	17	0	903	0	SNED1	2	241976286	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	68642307	241976286	1223087	19	1120	9	2									
SNED1	25992	broad.mit.edu	37	chr2	241976287	241976288	+	Frame_Shift_Ins	INS	-	-	ATACATTTCCATTT													cacgggcaacccctcctacaINScctgctcctgcctctcgggc							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:241976287_241976288insATACATTTCCATTT	ENST00000310397.8	+	5	886_887	c.886_887insATACATTTCCATTT	c.(886-888)accfs	p.T296fs	SNED1_ENST00000401884.1_Frame_Shift_Ins_p.T296fs|SNED1_ENST00000405547.3_Frame_Shift_Ins_p.T296fs|SNED1_ENST00000342631.6_Frame_Shift_Ins_p.T296fs|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	296	EGF-like 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCCCTCCTACACCTGCTCCTGC	0.708													False	0	False	2:241976287	0	ATACATTTCCATTT	241976288	-	ATACATTTCCATTT	241976287	7	5	15	1	0	1	1	0	0	0	0	0	14925	159	6	0	904	0	SNED1	2	241976287	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	1	241976287	1223086	20	1121	9	2									
ITPR1	3708	broad.mit.edu	37	chr3	4722339	4722339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacttcagaaacatcctccGgaaacagcagccaagaaggg	10	11	1	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:4722339G>A	ENST00000354582.6	+	25	3420	c.3070G>A	c.(3070-3072)Gga>Aga	p.G1024R	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1009R|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1000R|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1015R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1015R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1009R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1024					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACATCCTCCGGAAACAGCAG	0.433													False	0	False	3:4722339	0	A	4722339	G	A	4722339	3	1	15	1	0	0	0	0	1	0	0	0	7970	1117	39	1	3160	1	ITPR1	3	4722339	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		4722339	193300091	21	1122											
FANCD2	2177	broad.mit.edu	37	chr3	10107621	10107621	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgctaaagagcgttcattCatgtgttctctcatatttct	6	9	6	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:10107621C>T	ENST00000287647.3	+	25	2436	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	FANCD2_ENST00000383806.1_Silent_p.F781F|FANCD2_ENST00000419585.1_Silent_p.F781F|FANCD2_ENST00000383807.1_Silent_p.F781F	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	781					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGCGTTCATTCATGTGTTCTC	0.393			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	True	3:10107621	0	T	10107621	C	T	10107621	2	4	15	1	0	0	0	0	0	0	0	1	5705	825	29	2		2	FANCD2	3	10107621	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	5385282	10107621	187914809	22	1123											
TOP2B	7155	broad.mit.edu	37	chr3	25674236	25674236	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttttcttaactacttcaAtcagtttaccaacaacttga	2	10	4	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:25674236A>G	ENST00000435706.2	-	9	1262	c.1061T>C	c.(1060-1062)aTt>aCt	p.I354T	TOP2B_ENST00000264331.4_Missense_Mutation_p.I359T			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	359					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AACTACTTCAATCAGTTTACC	0.328													False	0	False	3:25674236	0	G	25674236	A	G	25674236	3	3	15	1	0	0	0	0	1	0	0	0	16449	101	4	4	3916	4	TOP2B	3	25674236	Missense_Mutation	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	15566615	25674236	172348194	23	1124											
GPR156	165829	broad.mit.edu	37	chr3	119962542	119962542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagtatcagcagaagtcCacagctgagaaaagtccaaa	9	8	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:119962542C>T	ENST00000464295.1	-	3	623	c.178G>A	c.(178-180)Gga>Aga	p.G60R	GPR156_ENST00000461057.1_Missense_Mutation_p.G60R|GPR156_ENST00000315843.3_Missense_Mutation_p.G60R			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	60						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGCAGAAGTCCACAGCTGAGA	0.433													False	0	False	3:119962542	0	T	119962542	C	T	119962542	3	4	15	1	0	0	0	0	1	0	0	0	6707	603	21	2	2298	2	GPR156	3	119962542	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	94288306	119962542	78059888	24	1125											
PIK3CA	5290	broad.mit.edu	37	chr3	178936074	178936074	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcaatttctacacgagatcCtctctctgaaatcactgagc	6	12	4	3	rs121913285		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:178936074C>G	ENST00000263967.3	+	10	1773	c.1616C>G	c.(1615-1617)cCt>cGt	p.P539R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	539	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.P539R(17)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACACGAGATCCTCTCTCTGAA	0.328	P539R(BT20_BREAST)|P539R(MFE296_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			False	0	True	3:178936074	0	G	178936074	C	G	178936074	3	3	15	1	0	0	0	0	1	0	0	0	11982	681	24	5	1650	5	PIK3CA	3	178936074	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	58973532	178936074	19086356	25	1126											
CHRNA9	55584	broad.mit.edu	37	chr4	40351422	40351422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggcctcagaaaatgtgCccctgataggtgagtccaag	12	11	1	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:40351422C>T	ENST00000310169.2	+	4	1028	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	297					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGAAAATGTGCCCCTGATAGG	0.498													False	0	True	4:40351422	0	T	40351422	C	T	40351422	3	4	15	1	0	0	0	0	1	0	0	0	3412	739	26	2	903	2	CHRNA9	4	40351422	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08		40351422	150802854	26	1127											
SYNPO2	171024	broad.mit.edu	37	chr4	119948539	119948540	+	Frame_Shift_Ins	INS	-	-	ACTT													cacagagcagggagaagatcINScacgctcggaaaaagatcac							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:119948539_119948540insACTT	ENST00000307142.4	+	3	1211_1212	c.1015_1016insACTT	c.(1015-1017)ccafs	p.P339fs	SYNPO2_ENST00000434046.2_Frame_Shift_Ins_p.P339fs|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Frame_Shift_Ins_p.P339fs	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	339						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGAGAAGATCCACGCTCGGAA	0.564													False	0	False	4:119948539	0	ACTT	119948540	-	ACTT	119948539	7	5	15	1	0	1	1	0	0	0	0	0	15539	855	30	0	1025	0	SYNPO2	4	119948539	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	79597117	119948539	71205737	27	1128											
DCHS2	54798	broad.mit.edu	37	chr4	155156138	155156138	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttccatcatgatcagaggtCgtctgagttgaaagagctgc	11	8	3	5			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:155156138C>T	ENST00000357232.3	-	25	8300	c.8301G>A	c.(8299-8301)acG>acA	p.T2767T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2767					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATCAGAGGTCGTCTGAGTTG	0.418													False	0	False	4:155156138	0	T	155156138	C	T	155156138	2	4	15	1	0	0	0	0	0	0	0	1	4313	871	31	1		1	DCHS2	4	155156138	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	35207599	155156138	35998138	28	1129											
CTNND2	1501	broad.mit.edu	37	chr5	10973809	10973809	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctgggctcctgtgggActggctgtgctgaaacctaa	13	10	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:10973809A>C	ENST00000304623.8	-	22	3623	c.3434T>G	c.(3433-3435)gTc>gGc	p.V1145G	CTNND2_ENST00000503622.1_Missense_Mutation_p.V808G|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.V712G|CTNND2_ENST00000511377.1_Missense_Mutation_p.V1054G|CTNND2_ENST00000359640.2_Missense_Mutation_p.V1087G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1145					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCTGTGGGACTGGCTGTGC	0.522													False	0	True	5:10973809	0	C	10973809	A	C	10973809	3	2	15	1	0	0	0	0	1	0	0	0	4045	275	10	4	247	4	CTNND2	5	10973809	Missense_Mutation	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08		10973809	169941451	29	1130											
PPWD1	23398	broad.mit.edu	37	chr5	64868000	64868000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggcttatccaaccagcGtatgtttttcaccagatggg	10	9	1	1	rs150307628		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:64868000G>A	ENST00000261308.5	+	5	928	c.856G>A	c.(856-858)Gta>Ata	p.V286I	PPWD1_ENST00000535264.1_Missense_Mutation_p.V256I|PPWD1_ENST00000538977.1_Missense_Mutation_p.V130I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	286					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCCAACCAGCGTATGTTTTTC	0.348													False	0	False	5:64868000	0	A	64868000	G	A	64868000	3	1	15	1	0	0	0	0	1	0	0	0	12488	1145	40	1	874	1	PPWD1	5	64868000	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	53894191	64868000	116047260	30	1131											
TNPO1	3842	broad.mit.edu	37	chr5	72195908	72195908	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcagtttataagaccctGgtgtgtattattcaatcttt	7	7	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:72195908G>A	ENST00000337273.5	+	21	2840	c.2414_splice	c.e21+1	p.W805_splice	TNPO1_ENST00000454282.1_Splice_Site_p.W755_splice|TNPO1_ENST00000506351.2_Splice_Site_p.W797_splice|TNPO1_ENST00000523768.1_Splice_Site_p.W755_splice	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	805					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.W797*(1)|p.W797L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATAAGACCCTGGTGTGTATTA	0.348													False	0	True	5:72195908	0	A	72195908	G	A	72195908	5	1	15	1	0	0	0	0	0	0	1	0	16417	1362	47	2	2496	2	TNPO1	5	72195908	Splice_Site	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	7327908	72195908	108719352	31	1132											
SRFBP1	153443	broad.mit.edu	37	chr5	121362757	121362757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgggaagcaagcagaaGgcgaaaagaacagcaatcta	11	7	2	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:121362757G>A	ENST00000339397.4	+	8	1298	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K	SRFBP1_ENST00000504881.1_Intron	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		GCAAGCAGAAGGCGAAAAGAA	0.368													False	0	False	5:121362757	0	A	121362757	G	A	121362757	3	1	15	1	0	0	0	0	1	0	0	0	15226	1000	35	2	1256	2	SRFBP1	5	121362757	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	49166849	121362757	59552503	32	1133											
DND1	373863	broad.mit.edu	37	chr5	140052939	140052939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacccacgcctccagcgccGccttgttctctggattcacc	8	18	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140052939G>A	ENST00000542735.1	-	2	102	c.59C>T	c.(58-60)gCg>gTg	p.A20V	HARS_ENST00000504156.1_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	20					multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCGCCGCCTTGTTCTC	0.642													False	0	False	5:140052939	0	A	140052939	G	A	140052939	3	1	15	1	0	0	0	0	1	0	0	0	4696	1087	38	1	1014	1	DND1	5	140052939	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	18690182	140052939	40862321	33	1134											
PCDHGA5	0	broad.mit.edu	37	chr5	140745619	140745619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacagacggttccacgggCgtggagctggcgcctcgctc	14	16	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140745619C>T	ENST00000518069.1	+	1	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCACGGGCGTGGAGCTGG	0.622													False	0	True	5:140745619	0	T	140745619	C	T	140745619	2	4	15	1	0	0	0	0	0	0	0	1	11625	755	27	1		1	PCDHGA5	5	140745619	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	692680	140745619	40169641	34	1135											
FAT2	2196	broad.mit.edu	37	chr5	150885588	150885588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggccctgagtcacttcGgagtgggggtattcccagcg	16	10	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150885588G>A	ENST00000261800.5	-	23	12600	c.12588C>T	c.(12586-12588)tcC>tcT	p.S4196S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4196					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCACTTCGGAGTGGGGGT	0.622													False	0	False	5:150885588	0	A	150885588	G	A	150885588	2	1	15	1	0	0	0	0	0	0	0	1	5730	1103	39	1		1	FAT2	5	150885588	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	10139969	150885588	30029672	35	1136											
FAT2	2196	broad.mit.edu	37	chr5	150923873	150923873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtatagaccaattgggaaAaagtgggagggttatcattg	14	3	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150923873A>G	ENST00000261800.5	-	9	6827	c.6815T>C	c.(6814-6816)tTt>tCt	p.F2272S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2272	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAATTGGGAAAAAGTGGGAGG	0.517													False	0	True	5:150923873	0	G	150923873	A	G	150923873	3	3	15	1	0	0	0	0	1	0	0	0	5730	14	1	4	6294	4	FAT2	5	150923873	Missense_Mutation	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	38285	150923873	29991387	36	1137											
SGCD	6444	broad.mit.edu	37	chr5	155771526	155771526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcagtacactcaccacCggagcaccatgcctggctct	10	15	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:155771526C>T	ENST00000435422.3	+	2	515	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	SGCD_ENST00000337851.4_Missense_Mutation_p.R11W|SGCD_ENST00000447401.1_Missense_Mutation_p.R11W|SGCD_ENST00000517913.1_Missense_Mutation_p.R11W	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	10					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTCACCACCGGAGCACCAT	0.478													False	0	False	5:155771526	0	T	155771526	C	T	155771526	3	4	15	1	0	0	0	0	1	0	0	0	14282	643	23	1	37	1	SGCD	5	155771526	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	4847653	155771526	25143734	37	1138											
HK3	3101	broad.mit.edu	37	chr5	176318141	176318141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagagtcacccacaaaacaCgcagtgaggcccctgtggcc	10	14	1	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:176318141C>T	ENST00000292432.5	-	4	402	c.311G>A	c.(310-312)cGt>cAt	p.R104H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	104	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACAAAACACGCAGTGAGGC	0.602													False	0	False	5:176318141	0	T	176318141	C	T	176318141	3	4	15	1	0	0	0	0	1	0	0	0	7239	536	19	1	2524	1	HK3	5	176318141	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	20546615	176318141	4597119	38	1139											
OR2Y1	134083	broad.mit.edu	37	chr5	180166545	180166545	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagaagaagtgattcagtcGatggccacagagaggcatgg	14	7	1	4			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:180166545G>A	ENST00000307832.2	-	1	554	c.514C>T	c.(514-516)Cga>Tga	p.R172*		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGATTCAGTCGATGGCCACAG	0.542													False	0	False	5:180166545	0	A	180166545	G	A	180166545	4	1	15	1	0	0	0	0	0	1	0	0	11103	1066	37	1	425	1	OR2Y1	5	180166545	Nonsense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	3848404	180166545	748715	39	1140											
PHF1	5252	broad.mit.edu	37	chr6	33382134	33382134	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagaattgggacagtttgctCctgggggaggtaaggggtag	19	4	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:33382134C>A	ENST00000374516.3	+	9	1138	c.867C>A	c.(865-867)ctC>ctA	p.L289L	PHF1_ENST00000374512.3_Silent_p.L289L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	289					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				ACAGTTTGCTCCTGGGGGAGG	0.498											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	6:33382134	0	A	33382134	C	A	33382134	2	1	15	1	0	0	0	0	0	0	0	1	11889	842	30	3		3	PHF1	6	33382134	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08		33382134	137732933	40	1141											
LRP11	84918	broad.mit.edu	37	chr6	150158554	150158555	+	Frame_Shift_Ins	INS	-	-	ACCCA													cgtgatgtcaatgcagcagcINScatcgtcacagaagaagtgg							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:150158554_150158555insACCCA	ENST00000239367.2	-	4	963_964	c.958_959insTGGGT	c.(958-960)ggcfs	p.-319fs	LRP11_ENST00000546019.1_Frame_Shift_Ins_p.-64fs	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11							integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		AATGCAGCAGCCATCGTCACAG	0.485													False	0	False	6:150158554	0	ACCCA	150158555	-	ACCCA	150158554	7	5	15	1	0	1	1	0	0	0	0	0	9015	739	26	0	559	0	LRP11	6	150158554	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	116776420	150158554	20956513	41	1142											
KIF25	0	broad.mit.edu	37	chr6	168440883	168440884	+	Frame_Shift_Ins	INS	-	-	AGTT													ctctaaccacagcctcctgcINStctgacagcactggtaagtc							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:168440883_168440884insAGTT	ENST00000443060.2	+	7	1024_1025	c.633_634insAGTT	c.(634-636)tctfs	p.-212fs	KIF25_ENST00000354419.2_Frame_Shift_Ins_p.-212fs|KIF25_ENST00000351261.3_Frame_Shift_Ins_p.-212fs			Q9UIL4	KIF25_HUMAN	kinesin family member 25						microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGCCTCCTGCTCTGACAGCAC	0.525													False	0	False	6:168440883	0	AGTT	168440884	-	AGTT	168440883	7	5	15	1	0	1	1	0	0	0	0	0	8343	805	28	0	651	0	KIF25	6	168440883	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	18282329	168440883	2674184	42	1143											
FIGNL1	63979	broad.mit.edu	37	chr7	50513641	50513641	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcaatgcacttgccaattaGagttttaccagtcccaggag	9	10	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:50513641G>T	ENST00000419119.1	-	2	2898	c.1345C>A	c.(1345-1347)Cta>Ata	p.L449I	FIGNL1_ENST00000395556.2_Missense_Mutation_p.L449I|FIGNL1_ENST00000433017.1_Missense_Mutation_p.L449I|FIGNL1_ENST00000356889.4_Missense_Mutation_p.L449I			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	449					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.L449L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGCCAATTAGAGTTTTACCA	0.458													False	0	False	7:50513641	0	T	50513641	G	T	50513641	3	4	15	1	0	0	0	0	1	0	0	0	5932	933	33	3	683	3	FIGNL1	7	50513641	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		50513641	108625022	43	1144											
ZNF3	7551	broad.mit.edu	37	chr7	99669508	99669508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctacattcatcacacttaTggggtctgtctcccacgggg	10	12	4	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:99669508T>C	ENST00000303915.6	-	5	1566	c.599A>G	c.(598-600)cAt>cGt	p.H200R	ZNF3_ENST00000299667.4_Missense_Mutation_p.H200R|ZNF3_ENST00000424697.1_Missense_Mutation_p.H200R|ZNF3_ENST00000413658.2_Intron			P17036	ZNF3_HUMAN	zinc finger protein 3	200					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			ATCACACTTATGGGGTCTGTC	0.433													False	0	True	7:99669508	0	C	99669508	T	C	99669508	3	2	15	1	0	0	0	0	1	0	0	0	17912	1464	51	4	874	4	ZNF3	7	99669508	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	49155867	99669508	59469155	44	1145											
CBLL1	79872	broad.mit.edu	37	chr7	107398626	107398626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgaattgagcagtgtacacGaggttctctcttcatgtgta	11	8	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:107398626G>A	ENST00000440859.2	+	6	946	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.R159Q	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	160					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CAGTGTACACGAGGTTCTCTC	0.378													False	0	False	7:107398626	0	A	107398626	G	A	107398626	3	1	15	1	0	0	0	0	1	0	0	0	2723	1058	37	1	501	1	CBLL1	7	107398626	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	7729118	107398626	51740037	45	1146											
SULF1	23213	broad.mit.edu	37	chr8	70501369	70501370	+	In_Frame_Ins	INS	-	-	GGG													actgtaccccaatgcttcccINSaacacatgtaagtaacaaac							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:70501369_70501370insGGG	ENST00000260128.4	+	8	1444_1445	c.727_728insGGG	c.(727-729)caa>cGGGaa	p.243_243Q>RE	SULF1_ENST00000402687.4_In_Frame_Ins_p.243_243Q>RE|SULF1_ENST00000458141.2_In_Frame_Ins_p.243_243Q>RE|SULF1_ENST00000419716.3_In_Frame_Ins_p.243_243Q>RE	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	243					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAATGCTTCCCAACACATGTAA	0.545													False	0	True	8:70501369	0	GGG	70501370	-	GGG	70501369	7	5	15	1	0	1	1	0	0	0	0	0	15452	595	21	0	741	0	SULF1	8	70501369	In_Frame_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08		70501369	75862653	46	1147	10	2									
SULF1	23213	broad.mit.edu	37	chr8	70501370	70501371	+	Frame_Shift_Ins	INS	-	-	AGCATTGGGGT													ctgtaccccaatgcttcccaINSacacatgtaagtaacaaact							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:70501370_70501371insAGCATTGGGGT	ENST00000260128.4	+	8	1445_1446	c.728_729insAGCATTGGGGT	c.(727-732)caacacfs	p.H244fs	SULF1_ENST00000402687.4_Frame_Shift_Ins_p.H244fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.H244fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.H244fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	244					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AATGCTTCCCAACACATGTAAG	0.545													False	0	False	8:70501370	0	AGCATTGGGGT	70501371	-	AGCATTGGGGT	70501370	7	5	15	1	0	1	1	0	0	0	0	0	15452	130	5	0	742	0	SULF1	8	70501370	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	1	70501370	75862652	47	1148	10	2									
KIF24	347240	broad.mit.edu	37	chr9	34256761	34256761	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccacctctttcctgtctAtatatgaaatctacctgtga	4	13	3	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:34256761A>G	ENST00000379166.2	-	11	2963	c.2844T>C	c.(2842-2844)taT>taC	p.Y948Y	KIF24_ENST00000402558.2_Silent_p.Y948Y|KIF24_ENST00000345050.2_Silent_p.Y814Y|KIF24_ENST00000379174.3_Silent_p.Y814Y	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	948					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTCCTGTCTATATATGAAAT	0.527													False	0	True	9:34256761	0	G	34256761	A	G	34256761	2	3	15	1	0	0	0	0	0	0	0	1	8342	456	16	4		4	KIF24	9	34256761	Silent	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08		34256761	106956670	48	1149											
GPSM1	26086	broad.mit.edu	37	chr9	139228944	139228944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggcgctggagggcgagCgtctgtgcaaggcgggcgac	20	10	1	0	rs140085951		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:139228944C>T	ENST00000440944.1	+	2	329	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	GPSM1_ENST00000392945.3_Missense_Mutation_p.R37C	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	37	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGAGGGCGAGCGTCTGTGCAA	0.652													False	0	False	9:139228944	0	T	139228944	C	T	139228944	3	4	15	1	0	0	0	0	1	0	0	0	6781	768	27	1	115	1	GPSM1	9	139228944	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	104972183	139228944	1984487	49	1150											
ARRDC1	92714	broad.mit.edu	37	chr9	140507340	140507354	+	Splice_Site	DEL	CTTTGCAGCCATCCG	CTTTGCAGCCATCCG	-													ggggctcatgcagccatcccCtttgcagccatccgggtgac					rs147183389	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	CTTTGCAGCCATCCG	CTTTGCAGCCATCCG	-	-	CTTTGCAGCCATCCG	CTTTGCAGCCATCCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:140507340_140507354delCTTTGCAGCCATCCG	ENST00000371421.4	+	2	182_189	c.118_125delCTTTGCAGCCATCCG	c.(118-126)ctttgcagc>c	p.LCS40del	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	40										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CAGCCATCCCCTTTGCAGCCATCCGGGTGACCTGC	0.633													False	1	False	9:140507340	0	-	140507354	CTTTGCAGCCATCCG	-	140507340	8	5	15	1	0	1	0	1	0	0	1	0	986	696	24	0		0	ARRDC1	9	140507340	Splice_Site	DEL	CTTTGCAGCCATCCG	TCGA-2L-AAQA-01A-21D-A38G-08	1278396	140507340	706091	50	1151											
CRTAC1	55118	broad.mit.edu	37	chr10	99696061	99696061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagctgcgctcatcgaccGcgatgttcaccagccgcttc	11	15	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:99696061G>A	ENST00000370597.3	-	3	642	c.287C>T	c.(286-288)gCg>gTg	p.A96V	CRTAC1_ENST00000370591.2_Missense_Mutation_p.A96V|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A96V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	96						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTCATCGACCGCGATGTTCAC	0.662													False	0	False	10:99696061	0	A	99696061	G	A	99696061	3	1	15	1	0	0	0	0	1	0	0	0	3919	1087	38	1	1750	1	CRTAC1	10	99696061	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		99696061	35838686	51	1152											
FAM178A	0	broad.mit.edu	37	chr10	102672997	102672997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggaaagagaacagagagtCctggggacaggtaccgtgca	16	8	0	2			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:102672997C>T	ENST00000238961.3	+	1	278	c.130C>T	c.(130-132)Cct>Tct	p.P44S	FAM178A_ENST00000370269.3_Missense_Mutation_p.P44S|FAM178A_ENST00000370271.3_Missense_Mutation_p.P44S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	44																	AACAGAGAGTCCTGGGGACAG	0.682													False	0	False	10:102672997	0	T	102672997	C	T	102672997	3	4	15	1	0	0	0	0	1	0	0	0	5539	855	30	2	132	2	FAM178A	10	102672997	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	2976936	102672997	32861750	52	1153											
MUC6	4588	broad.mit.edu	37	chr11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-													cagaaggactgggagaaaatGaggaggacagctgattagtt							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:1016412_1016414delGAG	ENST00000421673.2	-	31	6437_6439	c.6387_6389delCTC	c.(6385-6390)tcctca>tca	p.2129_2130SS>S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2129	Ser-rich.|Thr-rich.			S -> F (in Ref. 6; BAC04860).	maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.S2130delS(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGAAAATGAGGAGGACAGCT	0.522													False	2	False	11:1016412	0	-	1016414	GAG	-	1016412	7	5	15	1	0	1	0	1	0	0	0	0	10047	1294	45	0	942	0	MUC6	11	1016412	In_Frame_Del	DEL	GAG	TCGA-2L-AAQA-01A-21D-A38G-08		1016412	133990104	53	1154											
HIPK3	10114	broad.mit.edu	37	chr11	33369721	33369721	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caatttctcagaggtattttGgtaaaactaatggaatggga	10	4	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:33369721G>C	ENST00000303296.4	+	12	2621	c.2316G>C	c.(2314-2316)ttG>ttC	p.L772F	HIPK3_ENST00000379016.3_Intron|HIPK3_ENST00000525975.1_Intron|HIPK3_ENST00000456517.1_Intron	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	772	Interaction with AR (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GAGGTATTTTGGTAAAACTAA	0.363													False	0	True	11:33369721	0	C	33369721	G	C	33369721	3	2	15	1	0	0	0	0	1	0	0	0	7165	1339	47	5	2358	5	HIPK3	11	33369721	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	32353309	33369721	101636795	54	1155											
PAMR1	25891	broad.mit.edu	37	chr11	35513689	35513689	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccccccatgagccatttcGgcagctcttgcagttttcaa	7	15	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:35513689G>A	ENST00000378880.2	-	3	728	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PAMR1_ENST00000378878.3_Nonsense_Mutation_p.R95*|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Nonsense_Mutation_p.R55*|PAMR1_ENST00000278360.3_Nonsense_Mutation_p.R95*	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	95					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GAGCCATTTCGGCAGCTCTTG	0.522													False	0	False	11:35513689	0	A	35513689	G	A	35513689	4	1	15	1	0	0	0	0	0	1	0	0	11481	1124	39	1	1970	1	PAMR1	11	35513689	Nonsense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	2143968	35513689	99492827	55	1156											
PEX16	9409	broad.mit.edu	37	chr11	45936217	45936217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaggactgctcatggttgCcagggctgtggtcaccatct	13	11	3	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:45936217C>T	ENST00000532681.1	-	6	1057	c.194G>A	c.(193-195)gGc>gAc	p.G65D	PEX16_ENST00000378750.5_Missense_Mutation_p.G160D|PEX16_ENST00000241041.3_Missense_Mutation_p.G160D|PEX16_ENST00000532554.1_5'UTR			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	160					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTCATGGTTGCCAGGGCTGTG	0.582													False	0	False	11:45936217	0	T	45936217	C	T	45936217	3	4	15	1	0	0	0	0	1	0	0	0	11812	739	26	2	648	2	PEX16	11	45936217	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	10422528	45936217	89070299	56	1157											
FAM181B	220382	broad.mit.edu	37	chr11	82444594	82444594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatcgcgggtggcctcgcGcacgtcccctccttcggctc	12	17	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:82444594G>A	ENST00000329203.3	-	1	312	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	60										large_intestine(1)|lung(2)|prostate(1)	4						GTGGCCTCGCGCACGTCCCCT	0.662													False	0	False	11:82444594	0	A	82444594	G	A	82444594	3	1	15	1	0	0	0	0	1	0	0	0	5545	1087	38	1	1106	1	FAM181B	11	82444594	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	36508377	82444594	52561922	57	1158											
KCNA6	3742	broad.mit.edu	37	chr12	4920011	4920011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttctttctggtggagacGctgtgcattgtctggttcac	11	11	4	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:4920011G>A	ENST00000433855.1	+	1	1670	c.804G>A	c.(802-804)acG>acA	p.T268T	KCNA6_ENST00000280684.3_Silent_p.T268T	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	268						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGGTGGAGACGCTGTGCATTG	0.562										HNSCC(72;0.22)			False	0	False	12:4920011	0	A	4920011	G	A	4920011	2	1	15	1	0	0	0	0	0	0	0	1	8057	1074	38	1		1	KCNA6	12	4920011	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		4920011	128931884	58	1159											
NCAPD2	9918	broad.mit.edu	37	chr12	6631057	6631057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaaataaacccaatatgtCggatcctgaggaatccaggg	9	8	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:6631057C>T	ENST00000315579.5	+	15	2607	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.S558L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	603	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCCAATATGTCGGATCCTGAG	0.483													False	0	False	12:6631057	0	T	6631057	C	T	6631057	3	4	15	1	0	0	0	0	1	0	0	0	10273	893	31	1	1862	1	NCAPD2	12	6631057	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	1711046	6631057	127220838	59	1160											
PZP	5858	broad.mit.edu	37	chr12	9344794	9344795	+	Frame_Shift_Ins	INS	-	-	TCTGCCTGTGGAGTCAGGAGACAGTGAGATGAAT													ctgaggatactcactgtctcINSctgactccacaggcagagtg							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:9344794_9344795insTCTGCCTGTGGAGTCAGGAGACAGTGAGATGAAT	ENST00000261336.2	-	13	1568_1569	c.1540_1541insATTCATCTCACTGTCTCCTGACTCCACAGGCAGA	c.(1540-1542)ggafs	p.G514fs	PZP_ENST00000381997.2_Frame_Shift_Ins_p.G383fs	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTCACTGTCTCCTGACTCCACA	0.465													False	0	False	12:9344794	0	TCTGCCTGTGGAGTCAGGAGACAGTGAGATGAAT	9344795	-	TCTGCCTGTGGAGTCAGGAGACAGTGAGATGAAT	9344794	7	5	15	1	0	1	1	0	0	0	0	0	12948	855	30	0	3003	0	PZP	12	9344794	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	2713737	9344794	124507101	60	1161											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	15	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	16053490	25398284	108453611	61	1162											
CPNE8	144402	broad.mit.edu	37	chr12	39117617	39117617	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacttctgtttctaccaAgaaagagagtaaagttacct	7	7	2	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:39117617A>T	ENST00000331366.5	-	13	967	c.871T>A	c.(871-873)Ttg>Atg	p.L291M	CPNE8_ENST00000360449.3_Missense_Mutation_p.L279M	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	291										NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GTTTCTACCAAGAAAGAGAGT	0.328													False	0	True	12:39117617	0	T	39117617	A	T	39117617	3	4	15	1	0	0	0	0	1	0	0	0	3841	69	3	5	855	5	CPNE8	12	39117617	Missense_Mutation	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	13719333	39117617	94734278	62	1163											
NCKAP5L	57701	broad.mit.edu	37	chr12	50191075	50191075	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctctcagcacctccagaaTctgggccttcttccgaagga	10	14	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:50191075T>A	ENST00000335999.6	-	8	769	c.568A>T	c.(568-570)Att>Ttt	p.I190F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	186	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACCTCCAGAATCTGGGCCTTC	0.682													False	0	False	12:50191075	0	A	50191075	T	A	50191075	3	1	15	1	0	0	0	0	1	0	0	0	10292	1435	50	5	3460	5	NCKAP5L	12	50191075	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	11073458	50191075	83660820	63	1164											
BTBD11	121551	broad.mit.edu	37	chr12	108013765	108013765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctctccccgctccaggcGtcccgtggactctgcacacg	9	20	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:108013765G>A	ENST00000280758.5	+	11	2983	c.2455G>A	c.(2455-2457)Gtc>Atc	p.V819I	BTBD11_ENST00000357167.4_Missense_Mutation_p.V356I|BTBD11_ENST00000490090.2_Missense_Mutation_p.V819I|BTBD11_ENST00000420571.2_Missense_Mutation_p.V700I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	819						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGCTCCAGGCGTCCCGTGGAC	0.587													False	0	False	12:108013765	0	A	108013765	G	A	108013765	3	1	15	1	0	0	0	0	1	0	0	0	1546	1145	40	1	2602	1	BTBD11	12	108013765	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	57822690	108013765	25838130	64	1165											
DACH1	1602	broad.mit.edu	37	chr13	72014824	72014825	+	Splice_Site	DEL	TC	TC	-													ttttcaaatacagtcttccaTctagaaatgaacagtgaaaa							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr13:72014824_72014825delTC	ENST00000305425.4	-	11	2512	c.2090delGA	c.(2089-2091)gga>ga	p.G698fs	DACH1_ENST00000359684.2_Splice_Site_p.G750fs|DACH1_ENST00000313174.7_Splice_Site_p.G550fs|DACH1_ENST00000354591.4_Splice_Site_p.G496fs	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	748	Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.?(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAGTCTTCCATCTAGAAATGAA	0.307													False	1	False	13:72014824	0	-	72014825	TC	-	72014824	8	5	15	1	0	1	0	1	0	0	1	0	4245	1449	50	0	40	0	DACH1	13	72014824	Splice_Site	DEL	TC	TCGA-2L-AAQA-01A-21D-A38G-08		72014824	43155054	65	1166											
HECTD1	25831	broad.mit.edu	37	chr14	31576215	31576215	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctatcacctcgtgactcaTaaatcagtttactcatattg	4	11	5	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:31576215T>A	ENST00000399332.1	-	38	7351	c.6863A>T	c.(6862-6864)tAt>tTt	p.Y2288F	HECTD1_ENST00000553700.1_Missense_Mutation_p.Y2288F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2288	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCGTGACTCATAAATCAGTTT	0.368													False	0	True	14:31576215	0	A	31576215	T	A	31576215	3	1	15	1	0	0	0	0	1	0	0	0	7086	1406	49	5	993	5	HECTD1	14	31576215	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08		31576215	75773325	66	1167											
SERPINA1	5265	broad.mit.edu	37	chr14	94847356	94847357	+	Frame_Shift_Ins	INS	-	-	CCCGGCTTTG													acccagctggacagcttcttINSacagtgctggatgttaaaca					rs8350		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:94847356_94847357insCCCGGCTTTG	ENST00000448921.1	-	5	1340_1341	c.768_769insCAAAGCCGGG	c.(766-771)tgtaagfs	p.K257fs	SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000402629.1_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.K257fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.K257fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	257					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GACAGCTTCTTACAGTGCTGGA	0.52													False	0	False	14:94847356	0	CCCGGCTTTG	94847357	-	CCCGGCTTTG	94847356	7	5	15	1	0	1	1	0	0	0	0	0	14167	1763	61	0	499	0	SERPINA1	14	94847356	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	63271141	94847356	12502184	67	1168											
MAGEL2	54551	broad.mit.edu	37	chr15	23890209	23890209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacggctgtcctcttggGcttccagatgcttcttcttc	10	14	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:23890209G>A	ENST00000532292.1	-	1	966	c.872C>T	c.(871-873)gCc>gTc	p.A291V		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTCCTCTTGGGCTTCCAGATG	0.632													False	0	True	15:23890209	0	A	23890209	G	A	23890209	3	1	15	1	0	0	0	0	1	0	0	0	9256	1203	42	2	1072	2	MAGEL2	15	23890209	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		23890209	78641183	68	1169											
ISLR2	57611	broad.mit.edu	37	chr15	74425848	74425848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccggcaccccactgcgCgcaggactggcgttcgtgtt	13	16	0	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:74425848C>T	ENST00000361742.3	+	4	1522	c.753C>T	c.(751-753)cgC>cgT	p.R251R	ISLR2_ENST00000565159.1_Silent_p.R251R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Silent_p.R251R|ISLR2_ENST00000419208.1_Silent_p.R251R|ISLR2_ENST00000453268.2_Silent_p.R251R|ISLR2_ENST00000445793.1_Silent_p.R251R|ISLR2_ENST00000435464.1_Silent_p.R251R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	251	Ig-like.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCCCACTGCGCGCAGGACTGG	0.677													False	0	True	15:74425848	0	T	74425848	C	T	74425848	2	4	15	1	0	0	0	0	0	0	0	1	7909	755	27	1		1	ISLR2	15	74425848	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	50535639	74425848	28105544	69	1170											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			False	0	False	17:7578406	0	T	7578406	C	T	7578406	3	4	15	1	0	0	0	0	1	0	0	0	16464	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08		7578406	73616804	70	1171											
TRIM16L	147166	broad.mit.edu	37	chr17	18634465	18634465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggataaactctcgggcatccGcaaagttatcacggaatcca	9	11	2	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:18634465G>A	ENST00000449552.2	+	5	1768	c.284G>A	c.(283-285)cGc>cAc	p.R95H	TRIM16L_ENST00000395672.2_Missense_Mutation_p.R95H|TRIM16L_ENST00000395902.3_Missense_Mutation_p.R149H|TRIM16L_ENST00000414850.2_Intron|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R95H|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R95H			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	95						cytoplasm		p.R95H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TCGGGCATCCGCAAAGTTATC	0.443													False	0	False	17:18634465	0	A	18634465	G	A	18634465	3	1	15	1	0	0	0	0	1	0	0	0	16575	1087	38	1	290	1	TRIM16L	17	18634465	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	11056059	18634465	62560745	71	1172											
CCL8	6355	broad.mit.edu	37	chr17	32647821	32647821	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccctctctcccccacagCttcaagaccaaacggggcaa	8	17	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:32647821C>T	ENST00000394620.1	+	3	661	c.194_splice	c.e3-1	p.I65_splice		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	65					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TCCCCCACAGCTTCAAGACCA	0.512													False	0	False	17:32647821	0	T	32647821	C	T	32647821	5	4	15	1	0	0	0	0	0	0	1	0	2930	811	28	2	205	2	CCL8	17	32647821	Splice_Site	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	14013356	32647821	48547389	72	1173											
ZNF830	91603	broad.mit.edu	37	chr17	33288801	33288802	+	Frame_Shift_Ins	INS	-	-	TTACAGGTGCATGCCATCATGCCCAGCTAATTTTTGT													ggcagactcacgtcctgggaINSaagcagcaccgagagaaagt							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:33288801_33288802insTTACAGGTGCATGCCATCATGCCCAGCTAATTTTTGT	ENST00000361952.3	+	1	253_254	c.216_217insTTACAGGTGCATGCCATCATGCCCAGCTAATTTTTGT	c.(217-219)aagfs	p.K73fs		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	73					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				ACGTCCTGGGAAAGCAGCACCG	0.584													False	0	True	17:33288801	0	TTACAGGTGCATGCCATCATGCCCAGCTAATTTTTGT	33288802	-	TTACAGGTGCATGCCATCATGCCCAGCTAATTTTTGT	33288801	7	5	15	1	0	1	1	0	0	0	0	0	18266	233	9	0	218	0	ZNF830	17	33288801	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	640980	33288801	47906409	73	1174											
CD300C	10871	broad.mit.edu	37	chr17	72541060	72541061	+	Frame_Shift_Ins	INS	-	-	A													cccacggggcccgccacggtINScatggggtggctcagaggaa							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:72541060_72541061insA	ENST00000330793.1	-	2	447_448	c.87_88insT	c.(85-90)atgaccfs	p.T30fs		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	30	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCCGCCACGGTCATGGGGTGGC	0.569													False	0	False	17:72541060	0	A	72541061	-	A	72541060	7	5	15	1	0	1	1	0	0	0	0	0	3020	1667	58	0	598	0	CD300C	17	72541060	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	39252259	72541060	8654150	74	1175											
KIAA0195	9772	broad.mit.edu	37	chr17	73492816	73492816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttggtccctaggctcgGcatgccacctatggcatccg	10	16	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:73492816G>A	ENST00000314256.7	+	25	3643	c.3249G>A	c.(3247-3249)cgG>cgA	p.R1083R	KIAA0195_ENST00000375248.5_Silent_p.R1093R|KIAA0195_ENST00000579208.1_Silent_p.R734R|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1083					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTAGGCTCGGCATGCCACCT	0.607													False	0	False	17:73492816	0	A	73492816	G	A	73492816	2	1	15	1	0	0	0	0	0	0	0	1	8210	1190	42	2		2	KIAA0195	17	73492816	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	951756	73492816	7702394	75	1176											
EXOC7	23265	broad.mit.edu	37	chr17	74097870	74097870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccgctgcagattctcCgtctgcttgtgcacagggat	12	12	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:74097870C>T	ENST00000607838.1	-	3	295	c.201G>A	c.(199-201)acG>acA	p.T67T	EXOC7_ENST00000589210.1_Silent_p.T67T|EXOC7_ENST00000335146.7_Silent_p.T67T|EXOC7_ENST00000467929.2_Silent_p.T26T|EXOC7_ENST00000411744.2_Silent_p.T67T|EXOC7_ENST00000406660.3_Silent_p.T67T|EXOC7_ENST00000332065.5_Silent_p.T67T|EXOC7_ENST00000405575.4_Silent_p.T67T	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	67					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCAGATTCTCCGTCTGCTTGT	0.522													False	0	False	17:74097870	0	T	74097870	C	T	74097870	2	4	15	1	0	0	0	0	0	0	0	1	5342	639	23	1		1	EXOC7	17	74097870	Silent	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	605054	74097870	7097340	76	1177											
RAB40B	10966	broad.mit.edu	37	chr17	80616499	80616499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacgcccaggcgctcggCgtaggcctgggcctgctccg	16	16	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:80616499C>T	ENST00000571995.1	-	5	564	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	RAB40B_ENST00000538809.2_Intron|RAB40B_ENST00000269347.6_5'UTR	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	145					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AGGCGCTCGGCGTAGGCCTGG	0.652													False	0	False	17:80616499	0	T	80616499	C	T	80616499	3	4	15	1	0	0	0	0	1	0	0	0	13020	768	27	1	411	1	RAB40B	17	80616499	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	6518629	80616499	578711	77	1178											
CDH2	1000	broad.mit.edu	37	chr18	25570188	25570188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaataagggttttcatttaCgtcaataactgtaacagaca	6	6	2	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:25570188C>T	ENST00000269141.3	-	10	1894	c.1471G>A	c.(1471-1473)Gta>Ata	p.V491I	CDH2_ENST00000399380.3_Missense_Mutation_p.V460I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	491	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.V491I(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTTCATTTACGTCAATAACT	0.468													False	0	False	18:25570188	0	T	25570188	C	T	25570188	3	4	15	1	0	0	0	0	1	0	0	0	3128	536	19	1	1277	1	CDH2	18	25570188	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08		25570188	52507060	78	1179											
ALPK2	115701	broad.mit.edu	37	chr18	56246544	56246544	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctctcttactgattcAtccatgttgagcagattgtc	7	10	4	3			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:56246544A>T	ENST00000361673.3	-	4	1677	c.1464T>A	c.(1462-1464)gaT>gaA	p.D488E		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	488							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTACTGATTCATCCATGTTGA	0.493											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	18:56246544	0	T	56246544	A	T	56246544	3	4	15	1	0	0	0	0	1	0	0	0	545	214	8	5	5088	5	ALPK2	18	56246544	Missense_Mutation	SNP	A	TCGA-2L-AAQA-01A-21D-A38G-08	30676356	56246544	21830704	79	1180											
CTDP1	9150	broad.mit.edu	37	chr18	77477911	77477912	+	Frame_Shift_Ins	INS	-	-	GTCCGCCCTCCTGCCCTCTCCACGCTCCAGGGCCCTC													gcccagcctggccccgaggtINStcggatctacgactccaaca							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:77477911_77477912insGTCCGCCCTCCTGCCCTCTCCACGCTCCAGGGCCCTC	ENST00000299543.7	+	10	2459_2460	c.2312_2313insGTCCGCCCTCCTGCCCTCTCCACGCTCCAGGGCCCTC	c.(2311-2316)gttcggfs	p.R772fs	CTDP1_ENST00000075430.7_Frame_Shift_Ins_p.R772fs	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	772					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GGCCCCGAGGTTCGGATCTACG	0.693													False	0	False	18:77477911	0	GTCCGCCCTCCTGCCCTCTCCACGCTCCAGGGCCCTC	77477912	-	GTCCGCCCTCCTGCCCTCTCCACGCTCCAGGGCCCTC	77477911	7	5	15	1	0	1	1	0	0	0	0	0	4027	1725	60	0	2350	0	CTDP1	18	77477911	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	21231367	77477911	599337	80	1181											
MYO1F	4542	broad.mit.edu	37	chr19	8595429	8595429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcaaagccatcgaactttCgctctcgcacctcctccagg	9	16	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:8595429C>T	ENST00000338257.8	-	20	2339	c.2072G>A	c.(2071-2073)cGa>cAa	p.R691Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	691						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATCGAACTTTCGCTCTCGCAC	0.647													False	0	True	19:8595429	0	T	8595429	C	T	8595429	3	4	15	1	0	0	0	0	1	0	0	0	10140	884	31	1	1260	1	MYO1F	19	8595429	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08		8595429	50533554	81	1182											
RASAL3	64926	broad.mit.edu	37	chr19	15567402	15567402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttcccggaacagcagcGcctcacggcctccacagcgc	10	17	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:15567402G>A	ENST00000343625.6	-	10	1567	c.1487C>T	c.(1486-1488)gCg>gTg	p.A496V	RASAL3_ENST00000595098.1_5'UTR	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	496	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAACAGCAGCGCCTCACGGCC	0.617													False	0	False	19:15567402	0	A	15567402	G	A	15567402	3	1	15	1	0	0	0	0	1	0	0	0	13144	1087	38	1	1584	1	RASAL3	19	15567402	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	6971973	15567402	43561581	82	1183											
PDCD2L	84306	broad.mit.edu	37	chr19	34912428	34912428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtttccttgtcctaggtatTcctggagtggagagccactc	11	10	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:34912428T>C	ENST00000246535.3	+	6	849	c.802T>C	c.(802-804)Tcc>Ccc	p.S268P	PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	268						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCCTAGGTATTCCTGGAGTGG	0.493													False	0	False	19:34912428	0	C	34912428	T	C	34912428	3	2	15	1	0	0	0	0	1	0	0	0	11688	1783	62	4	824	4	PDCD2L	19	34912428	Missense_Mutation	SNP	T	TCGA-2L-AAQA-01A-21D-A38G-08	19345026	34912428	24216555	83	1184											
POU2F2	5452	broad.mit.edu	37	chr19	42603967	42603968	+	Frame_Shift_Ins	INS	-	-	GATCCCCCAAAAGATGGGGTAAGTGTCGGAAGAGGGAAGGATCT													tggagctggaggagctgctgINStatgtcctggcagggagtgg							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:42603967_42603968insGATCCCCCAAAAGATGGGGTAAGTGTCGGAAGAGGGAAGGATCT	ENST00000389341.5	-	6	375_376	c.309_310insAGATCCTTCCCTCTTCCGACACTTACCCCATCTTTTGGGGGATC	c.(307-312)atacagfs	p.Q104fs	POU2F2_ENST00000533720.1_Frame_Shift_Ins_p.Q104fs|POU2F2_ENST00000342301.4_Frame_Shift_Ins_p.Q104fs|POU2F2_ENST00000529067.1_Frame_Shift_Ins_p.Q104fs|POU2F2_ENST00000560558.1_Frame_Shift_Ins_p.Q65fs|POU2F2_ENST00000560398.1_Frame_Shift_Ins_p.Q126fs|POU2F2_ENST00000529952.1_Frame_Shift_Ins_p.Q104fs|POU2F2_ENST00000526816.2_Frame_Shift_Ins_p.Q104fs	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	104					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGGAGCTGCTGTATGTCCTGGC	0.614													False	0	False	19:42603967	0	GATCCCCCAAAAGATGGGGTAAGTGTCGGAAGAGGGAAGGATCT	42603968	-	GATCCCCCAAAAGATGGGGTAAGTGTCGGAAGAGGGAAGGATCT	42603967	7	5	15	1	0	1	1	0	0	0	0	0	12341	1386	48	0	1117	0	POU2F2	19	42603967	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08	7691539	42603967	16525016	84	1185											
SBK2	646643	broad.mit.edu	37	chr19	56042597	56042597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgactcgatgccaatgccGtaggccgtcacgatggctga	13	13	1	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56042597G>A	ENST00000413299.1	-	3	406	c.369C>T	c.(367-369)taC>taT	p.Y123Y	SBK2_ENST00000344158.3_Silent_p.Y123Y	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	123	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGCCAATGCCGTAGGCCGTCA	0.642													False	0	False	19:56042597	0	A	56042597	G	A	56042597	2	1	15	1	0	0	0	0	0	0	0	1	13941	1140	40	1		1	SBK2	19	56042597	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	13438630	56042597	3086386	85	1186											
ZNF787	126208	broad.mit.edu	37	chr19	56600294	56600294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcgtgcgctggtgccGcgtcagcttggaccagtggc	18	11	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56600294G>A	ENST00000270459.3	-	3	365	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W		NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN	zinc finger protein 787	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGCTGGTGCCGCGTCAGCTTG	0.721													False	0	False	19:56600294	0	A	56600294	G	A	56600294	3	1	15	1	0	0	0	0	1	0	0	0	18241	1086	38	1	908	1	ZNF787	19	56600294	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	557697	56600294	2528689	86	1187											
EMILIN3	90187	broad.mit.edu	37	chr20	39991236	39991237	+	Frame_Shift_Ins	INS	-	-	A													tcacactcactctggacgccINSttgcagcttctgctcaaagc							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:39991236_39991237insA	ENST00000332312.3	-	4	1164_1165	c.972_973insT	c.(970-975)caaggcfs	p.G325fs		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	325						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTCTGGACGCCTTGCAGCTTCT	0.668													False	0	False	20:39991236	0	A	39991237	-	A	39991236	7	5	15	1	0	1	1	0	0	0	0	0	5127	681	24	0	1331	0	EMILIN3	20	39991236	Frame_Shift_Ins	INS	-	TCGA-2L-AAQA-01A-21D-A38G-08		39991236	23034284	87	1188											
TSHZ2	128553	broad.mit.edu	37	chr20	51871827	51871827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaagacaaagatgaagcGgtgaaggagtgtgggaaaga	16	3	1	6	rs147016688	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:51871827G>A	ENST00000371497.5	+	2	2717	c.1830G>A	c.(1828-1830)gcG>gcA	p.A610A	TSHZ2_ENST00000603338.2_Silent_p.A607A|TSHZ2_ENST00000329613.6_Silent_p.A607A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	610					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A610A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGATGAAGCGGTGAAGGAGT	0.502													False	0	False	20:51871827	0	A	51871827	G	A	51871827	2	1	15	1	0	0	0	0	0	0	0	1	16707	1103	39	1		1	TSHZ2	20	51871827	Silent	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08	11880591	51871827	11153693	88	1189											
DSCAM	1826	broad.mit.edu	37	chr21	41385178	41385178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggatgggctccaggaccGtggggcgcttcagggtccgg	19	11	1	0			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:41385178G>A	ENST00000400454.1	-	33	6299	c.5822C>T	c.(5821-5823)aCg>aTg	p.T1941M		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1941				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCAGGACCGTGGGGCGCTT	0.627													False	0	False	21:41385178	0	A	41385178	G	A	41385178	3	1	15	1	0	0	0	0	1	0	0	0	4798	1145	40	1	220	1	DSCAM	21	41385178	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		41385178	6744717	89	1190											
TRIOBP	11078	broad.mit.edu	37	chr22	38153721	38153721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctctgaggtcatcagccGgggtggccctcggaaggcgg	19	11	3	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:38153721G>A	ENST00000406386.3	+	16	6044	c.5789G>A	c.(5788-5790)cGg>cAg	p.R1930Q	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R217Q|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R217Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1930					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GTCATCAGCCGGGGTGGCCCT	0.701													False	0	True	22:38153721	0	A	38153721	G	A	38153721	3	1	15	1	0	0	0	0	1	0	0	0	16636	1116	39	1	6030	1	TRIOBP	22	38153721	Missense_Mutation	SNP	G	TCGA-2L-AAQA-01A-21D-A38G-08		38153721	13150845	90	1191											
TRIOBP	11078	broad.mit.edu	37	chr22	38165362	38165362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgggcgcagcaacgagCggagttcctgcgagctagag	17	11	0	1			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:38165362C>T	ENST00000406386.3	+	21	7084	c.6829C>T	c.(6829-6831)Cgg>Tgg	p.R2277W	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R564W	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2277					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGCAACGAGCGGAGTTCCTG	0.667													False	0	False	22:38165362	0	T	38165362	C	T	38165362	3	4	15	1	0	0	0	0	1	0	0	0	16636	759	27	1	7205	1	TRIOBP	22	38165362	Missense_Mutation	SNP	C	TCGA-2L-AAQA-01A-21D-A38G-08	11641	38165362	13139204	91	1192											
ELK1	2002	broad.mit.edu	37	chrX	47500672	47500673	+	Frame_Shift_Del	DEL	AA	AA	-													ggcccggctgagcttgtcgtAattcatgttggtcttgttct							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	AA	AA	-	-	AA	AA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:47500672_47500673delAA	ENST00000247161.3	-	2	267_268	c.168_169delTT	c.(166-171)aattacfs	p.NY56fs	ELK1_ENST00000592066.1_Frame_Shift_Del_p.NY2fs|ELK1_ENST00000343894.4_Frame_Shift_Del_p.NY56fs|ELK1_ENST00000376983.3_Frame_Shift_Del_p.NY56fs	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	56					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						AGCTTGTCGTAATTCATGTTGG	0.53													False	2	False	X:47500672	0	-	47500673	AA	-	47500672	7	5	15	1	0	1	0	1	0	0	0	0	5091	362	13	0	1137	0	ELK1	23	47500672	Frame_Shift_Del	DEL	AA	TCGA-2L-AAQA-01A-21D-A38G-08		47500672	107769888	92	1193											
DGKK	139189	broad.mit.edu	37	chrX	50213545	50213556	+	RNA	DEL	GCGGCGGAGCCG	GCGGCGGAGCCG	-													tggcgaagcctcggagagcaGcggcggagccggcggcggag							TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08	GCGGCGGAGCCG	GCGGCGGAGCCG	-	-	GCGGCGGAGCCG	GCGGCGGAGCCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:50213545_50213556delGCGGCGGAGCCG	ENST00000376025.2	-	0	181_192							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGGAGAgcagcggcggagccggcggcggagc	0.693													False	1	False	X:50213545	0	-	50213556	GCGGCGGAGCCG	-	50213545	6	5	15	0	1	1	0	1	0	0	0	0	4502	962	34	0		0	DGKK	23	50213545	RNA	DEL	GCGGCGGAGCCG	TCGA-2L-AAQA-01A-21D-A38G-08	2712873	50213545	105057015	93	1194											
KIF1B	23095	broad.mit.edu	37	chr1	10384048	10384048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggacaggcctttccctcGcacagtggtagcagtagaag	13	10	0	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:10384048G>A	ENST00000377086.1	+	25	2667	c.2465G>A	c.(2464-2466)cGc>cAc	p.R822H	KIF1B_ENST00000263934.6_Missense_Mutation_p.R776H|KIF1B_ENST00000377081.1_Missense_Mutation_p.R822H			O60333	KIF1B_HUMAN	kinesin family member 1B	822					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCTTTCCCTCGCACAGTGGTA	0.443													False	0	False	1:10384048	0	A	10384048	G	A	10384048	3	1	16	1	0	0	0	0	1	0	0	0	8334	1087	38	1	3902	1	KIF1B	1	10384048	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		10384048	238866573	1	1195											
NBPF16	728936	broad.mit.edu	37	chr1	148753330	148753330	+	Frame_Shift_Del	DEL	T	T	-													tgttattcgactccttcagaTtatcttgaactgcctgactt							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:148753330delT	ENST00000417839.1	+	12	1537	c.1347delT	c.(1345-1347)gatfs	p.D449fs		NM_001102663.1	NP_001096133.1			neuroblastoma breakpoint family, member 16											breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CTCCTTCAGATTATCTTGAAC	0.493													False	2	False	1:148753330	0	-	148753330	T	-	148753330	7	5	16	1	0	1	0	1	0	0	0	0	10264	1490	52	0	3462	0	NBPF16	1	148753330	Frame_Shift_Del	DEL	T	TCGA-2L-AAQE-01A-11D-A397-08	138369282	148753330	100497291	2	1196											
FLG	2312	broad.mit.edu	37	chr1	152286796	152286796	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcctaatctagtatttTcagtcttgtttttctctttt	4	8	5	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:152286796T>A	ENST00000368799.1	-	3	601	c.566A>T	c.(565-567)gAa>gTa	p.E189V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	189					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTAGTATTTTCAGTCTTGTT	0.308									Ichthyosis				False	0	True	1:152286796	0	A	152286796	T	A	152286796	3	1	16	1	0	0	0	0	1	0	0	0	5962	1783	62	5	11623	5	FLG	1	152286796	Missense_Mutation	SNP	T	TCGA-2L-AAQE-01A-11D-A397-08	3533466	152286796	96963825	3	1197											
TMEM63A	9725	broad.mit.edu	37	chr1	226037743	226037743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagacgaagtagaggttgtgCcggtccaccatgtgcttgag	14	8	0	3			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	647						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGAGGTTGTGCCGGTCCACCA	0.602													False	0	False	1:226037743	0	T	226037743	C	T	226037743	2	4	16	1	0	0	0	0	0	0	0	1	16272	726	26	2		2	TMEM63A	1	226037743	Silent	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	73750947	226037743	23212878	4	1198											
OBSCN	84033	broad.mit.edu	37	chr1	228451984	228451984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaagtgcgaatggaggccGtgggctgcacacggaggctg	18	9	0	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr1:228451984G>A	ENST00000570156.2	+	18	5379	c.5305G>A	c.(5305-5307)Gtg>Atg	p.V1769M	OBSCN_ENST00000422127.1_Missense_Mutation_p.V1585M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1585M|OBSCN_ENST00000359599.6_Missense_Mutation_p.V241M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	757	Fibronectin type-III 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AATGGAGGCCGTGGGCTGCAC	0.662													False	0	False	1:228451984	0	A	228451984	G	A	228451984	3	1	16	1	0	0	0	0	1	0	0	0	10880	1145	40	1	4811	1	OBSCN	1	228451984	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	2414241	228451984	20798637	5	1199											
AUP1	550	broad.mit.edu	37	chr2	74754875	74754875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatacctgactgggggcGcaatctggggtgtctttgtc	13	11	2	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr2:74754875G>A	ENST00000377526.3	-	8	1138	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	343						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						GACTGGGGGCGCAATCTGGGG	0.512													False	0	False	2:74754875	0	A	74754875	G	A	74754875	3	1	16	1	0	0	0	0	1	0	0	0	1224	1087	38	1	423	1	AUP1	2	74754875	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		74754875	168444498	6	1200											
RGPD2	729857	broad.mit.edu	37	chr2	88125207	88125207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggggcggagccctgcacCgaggcgaggtaccgctcccc	16	16	0	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr2:88125207C>T	ENST00000398146.3	-	1	264	c.42G>A	c.(40-42)tcG>tcA	p.S14S	RGPD2_ENST00000327544.6_5'UTR|RGPD2_ENST00000420840.2_Intron			Q68DN6	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 2	0					intracellular transport		binding			breast(1)|pancreas(1)	2						AGCCCTGCACCGAGGCGAGGT	0.721													False	0	True	2:88125207	0	T	88125207	C	T	88125207	2	4	16	1	0	0	0	0	0	0	0	1	13365	639	23	1		1	RGPD2	2	88125207	Silent	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	13370332	88125207	155074166	7	1201											
SETMAR	6419	broad.mit.edu	37	chr3	4354912	4354945	+	Splice_Site	DEL	AGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	AGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	-													tggaatttataccgaaaggaAggtttgtctgtgaatatgct					rs138536689		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	AGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	AGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	-	-	AGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	AGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:4354912_4354945delAGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	ENST00000425863.1	+	2	487_488	c.487_488delAGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	c.(487-489)agg>g	p.R163fs	SETMAR_ENST00000430981.1_Frame_Shift_Del_p.RFVCEYAGEVLG163fs|SETMAR_ENST00000358065.4_Frame_Shift_Del_p.RFVCEYAGEVLG163fs|SUMF1_ENST00000534863.1_Intron	NM_001243723.1	NP_001230652.1	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	289	Histone-lysine N-methyltransferase.|SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ACCGAAAGGAAGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAGGATTCTCTGA	0.406								Chromatin Structure					False	1	False	3:4354912	0	-	4354945	AGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	-	4354912	8	5	16	1	0	1	0	1	0	0	1	0	14221	63	3	0	493	0	SETMAR	3	4354912	Splice_Site	DEL	AGGTTTGTCTGTGAATATGCTGGTGAGGTTTTAG	TCGA-2L-AAQE-01A-11D-A397-08		4354912	193667518	8	1202											
ITPR1	3708	broad.mit.edu	37	chr3	4735249	4735249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactctgatccagatgatgCggtcagaacgggatcggatg	14	8	2	5	rs61757109		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:4735249C>T	ENST00000354582.6	+	33	4455	c.4105C>T	c.(4105-4107)Cgg>Tgg	p.R1369W	ITPR1_ENST00000357086.4_Missense_Mutation_p.R1360W|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1345W|ITPR1_ENST00000443694.2_Missense_Mutation_p.R1354W|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1360W|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1354W			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1369					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.R1345W(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCAGATGATGCGGTCAGAACG	0.517													False	0	False	3:4735249	0	T	4735249	C	T	4735249	3	4	16	1	0	0	0	0	1	0	0	0	7970	759	27	1	4227	1	ITPR1	3	4735249	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	380337	4735249	193287181	9	1203											
IMPDH2	3615	broad.mit.edu	37	chr3	49062645	49062645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccggaacaccaaagcgcCgtgcatactctgacaccttg	9	14	1	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:49062645C>T	ENST00000326739.4	-	10	1103	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	355					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	ACCAAAGCGCCGTGCATACTC	0.562													False	0	False	3:49062645	0	T	49062645	C	T	49062645	3	4	16	1	0	0	0	0	1	0	0	0	7777	652	23	1	500	1	IMPDH2	3	49062645	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	44327396	49062645	148959785	10	1204											
IFRD2	7866	broad.mit.edu	37	chr3	50330022	50330022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgcctggggcccaccagCcgacgacgcgctggctgaac	13	18	0	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:50330022C>T	ENST00000336089.4	-	2	282	c.283G>A	c.(283-285)Gct>Act	p.A95T	IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	100							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGCCCACCAGCCGACGACGCG	0.657													False	0	False	3:50330022	0	T	50330022	C	T	50330022	3	4	16	1	0	0	0	0	1	0	0	0	7604	754	26	2		2	IFRD2	3	50330022	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	1267377	50330022	147692408	11	1205											
PLSCR2	57047	broad.mit.edu	37	chr3	146177707	146177707	+	Frame_Shift_Del	DEL	A	A	-													ggcatccatggtaccccttcAggtctacctggctgattttg							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:146177707delA	ENST00000497985.1	-	4	643	c.204delT	c.(202-204)cctfs	p.P68fs	PLSCR2_ENST00000336685.2_5'UTR	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	117					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						GTACCCCTTCAGGTCTACCTG	0.507													False	1	False	3:146177707	0	-	146177707	A	-	146177707	7	5	16	1	0	1	0	1	0	0	0	0	12179	203	7	0		0	PLSCR2	3	146177707	Frame_Shift_Del	DEL	A	TCGA-2L-AAQE-01A-11D-A397-08	95847685	146177707	51844723	12	1206											
NCBP2	22916	broad.mit.edu	37	chr3	196664485	196664485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcgtcccatttatgtaccGcatggcgttttccgcatctg	9	13	1	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr3:196664485G>A	ENST00000447325.1	-	3	434	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	NCBP2_ENST00000452404.2_Missense_Mutation_p.R81W|NCBP2_ENST00000321256.5_Missense_Mutation_p.R99W|NCBP2_ENST00000422610.1_Missense_Mutation_p.R29W|NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000427641.2_Missense_Mutation_p.R46W			P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	99					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding	p.R99W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TTTATGTACCGCATGGCGTTT	0.488													False	0	False	3:196664485	0	A	196664485	G	A	196664485	3	1	16	1	0	0	0	0	1	0	0	0	10280	1086	38	1	183	1	NCBP2	3	196664485	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	50486778	196664485	1357945	13	1207											
FBXL5	26234	broad.mit.edu	37	chr4	15628553	15628553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatccagatgctccaggttaGgacaaagctctaaaatctgc	9	10	2	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr4:15628553G>T	ENST00000341285.3	-	8	1191	c.1067C>A	c.(1066-1068)cCt>cAt	p.P356H	FBXL5_ENST00000382358.4_Missense_Mutation_p.P230H|FBXL5_ENST00000412094.2_Missense_Mutation_p.P339H	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	356					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTCCAGGTTAGGACAAAGCTC	0.328													False	0	False	4:15628553	0	T	15628553	G	T	15628553	3	4	16	1	0	0	0	0	1	0	0	0	5762	1000	35	3	1024	3	FBXL5	4	15628553	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		15628553	175525723	14	1208											
UGT3A2	167127	broad.mit.edu	37	chr5	36049023	36049023	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttaataggtttttccatcaAgcctccaacataaacagtgt	5	9	1	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:36049023A>T	ENST00000282507.3	-	4	912	c.811T>A	c.(811-813)Ttg>Atg	p.L271M	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.L237M|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	271						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTCCATCAAGCCTCCAACA	0.453													False	0	False	5:36049023	0	T	36049023	A	T	36049023	3	4	16	1	0	0	0	0	1	0	0	0	17048	69	3	5	776	5	UGT3A2	5	36049023	Missense_Mutation	SNP	A	TCGA-2L-AAQE-01A-11D-A397-08		36049023	144866237	15	1209											
VDAC1	7416	broad.mit.edu	37	chr5	133316519	133316519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaattcatctggtagccgGccagccagccctcgtaacct	8	15	2	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:133316519G>A	ENST00000265333.3	-	6	696	c.452C>T	c.(451-453)gCc>gTc	p.A151V	VDAC1_ENST00000395044.3_Missense_Mutation_p.A151V|VDAC1_ENST00000395047.2_Missense_Mutation_p.A151V	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	151					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CTGGTAGCCGGCCAGCCAGCC	0.527													False	0	True	5:133316519	0	A	133316519	G	A	133316519	3	1	16	1	0	0	0	0	1	0	0	0	17230	1203	42	2	415	2	VDAC1	5	133316519	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	97267496	133316519	47598741	16	1210											
SPOCK1	6695	broad.mit.edu	37	chr5	136315143	136315143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagccctcctcattacacCgaggtatgaaggcccctggg	10	13	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:136315143C>T	ENST00000394945.1	-	10	1176	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	SPOCK1_ENST00000282223.7_Missense_Mutation_p.R336Q|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	336	Thyroglobulin type-1.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCATTACACCGAGGTATGAA	0.542													False	0	False	5:136315143	0	T	136315143	C	T	136315143	3	4	16	1	0	0	0	0	1	0	0	0	15161	652	23	1	320	1	SPOCK1	5	136315143	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	2998624	136315143	44600117	17	1211											
PCDHA7	0	broad.mit.edu	37	chr5	140216036	140216036	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgttgggcattgcaggcccaGagaccgagctggtggatgtc	16	10	0	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:140216036G>A	ENST00000525929.1	+	1	2068	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.E690K|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGCCCAGAGACCGAGCT	0.637													False	0	False	5:140216036	0	A	140216036	G	A	140216036	3	1	16	1	0	0	0	0	1	0	0	0	11597	943	33	2	2070	2	PCDHA7	5	140216036	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	3900893	140216036	40699224	18	1212											
POU4F3	5459	broad.mit.edu	37	chr5	145719822	145719822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgaacggaagcgcaaaCgcacgtccatcgcggcgccg	14	15	0	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr5:145719822C>T	ENST00000230732.4	+	2	921	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	278					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGCGCAAACGCACGTCCAT	0.612													False	0	True	5:145719822	0	T	145719822	C	T	145719822	3	4	16	1	0	0	0	0	1	0	0	0	12349	536	19	1	838	1	POU4F3	5	145719822	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	5503786	145719822	35195438	19	1213											
BCLAF1	9774	broad.mit.edu	37	chr6	136599814	136599814	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctgtacccataaggtcGtctcattcctctattatttc	4	13	3	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr6:136599814G>A	ENST00000531224.1	-	4	457	c.205C>T	c.(205-207)Cga>Tga	p.R69*	BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R67*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	69					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCATAAGGTCGTCTCATTCCT	0.433													False	0	False	6:136599814	0	A	136599814	G	A	136599814	4	1	16	1	0	0	0	0	0	1	0	0	1387	1153	40	1	2597	1	BCLAF1	6	136599814	Nonsense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		136599814	34515253	20	1214											
FNDC1	84624	broad.mit.edu	37	chr6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-													agcagtcggtctcagccgagGacgacgaggaggaggacgcg							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65													False	2	False	6:159655079	0	-	159655081	GAC	-	159655079	7	5	16	1	0	1	0	1	0	0	0	0	6008	1174	41	0	3577	0	FNDC1	6	159655079	In_Frame_Del	DEL	GAC	TCGA-2L-AAQE-01A-11D-A397-08	23055265	159655079	11459988	21	1215											
ANK1	286	broad.mit.edu	37	chr8	41572577	41572577	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtacttggccgccacgtgcaGaggggtaaatcctttctgag	13	10	1	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr8:41572577G>A	ENST00000396942.1	-	15	1701	c.1618C>T	c.(1618-1620)Ctg>Ttg	p.L540L	ANK1_ENST00000289734.7_Silent_p.L540L|ANK1_ENST00000352337.4_Silent_p.L540L|ANK1_ENST00000396945.1_Silent_p.L540L|ANK1_ENST00000265709.8_Silent_p.L573L|ANK1_ENST00000379758.2_Silent_p.L540L|ANK1_ENST00000347528.4_Silent_p.L540L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	540	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	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)			GCCACGTGCAGAGGGGTAAAT	0.622													False	0	False	8:41572577	0	A	41572577	G	A	41572577	2	1	16	1	0	0	0	0	0	0	0	1	620	933	33	2		2	ANK1	8	41572577	Silent	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		41572577	104791445	22	1216											
ABRA	137735	broad.mit.edu	37	chr8	107782214	107782214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttctggtgtgaagtagGgggtgtgattggtttaggag	18	2	1	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr8:107782214G>A	ENST00000311955.3	-	1	259	c.205C>T	c.(205-207)Cct>Tct	p.P69S		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	69					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TGTGAAGTAGGGGGTGTGATT	0.592													False	0	True	8:107782214	0	A	107782214	G	A	107782214	3	1	16	1	0	0	0	0	1	0	0	0	100	1232	43	2	948	2	ABRA	8	107782214	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	66209637	107782214	38581808	23	1217											
COL22A1	169044	broad.mit.edu	37	chr8	139820045	139820045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccccatggggccagcaactCccatttcaccctaaaagaag	8	15	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr8:139820045C>T	ENST00000303045.6	-	10	1906	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G487E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	487	Collagen-like 1.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCAGCAACTCCCATTTCACC	0.443										HNSCC(7;0.00092)			False	0	True	8:139820045	0	T	139820045	C	T	139820045	3	4	16	1	0	0	0	0	1	0	0	0	3704	855	30	2	3644	2	COL22A1	8	139820045	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	32037831	139820045	6543977	24	1218											
CDKN2A	1029	broad.mit.edu	37	chr9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcccgggcagcgtcgtGcacgggtcgggtgagagtgg	19	12	0	1	rs121913385		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr9:21971111G>A	ENST00000579755.1	-	2	582	c.290C>T	c.(289-291)gCa>gTa	p.A97V	CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	False	9:21971111	0	A	21971111	G	A	21971111	3	1	16	1	0	0	0	0	1	0	0	0	3184	1319	46	2	231	2	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		21971111	119242320	25	1219											
ZNF189	7743	broad.mit.edu	37	chr9	104170526	104170526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggaaagggttttgtccGcaaggcccatttcattcaac	10	9	2	0	rs146668775		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr9:104170526G>A	ENST00000374861.3	+	3	718	c.434G>A	c.(433-435)cGc>cAc	p.R145H	ZNF189_ENST00000259395.4_Missense_Mutation_p.R117H|ZNF189_ENST00000339664.2_Missense_Mutation_p.R159H	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	159					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTTTTGTCCGCAAGGCCCAT	0.383													False	0	False	9:104170526	0	A	104170526	G	A	104170526	3	1	16	1	0	0	0	0	1	0	0	0	17837	1087	38	1	486	1	ZNF189	9	104170526	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	82199415	104170526	37042905	26	1220											
SMC2	10592	broad.mit.edu	37	chr9	106864325	106864325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattgcttatcagtttttgCtggctgaagataccaaagta	8	6	1	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr9:106864325C>T	ENST00000286398.7	+	8	1009	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	SMC2_ENST00000303219.8_Silent_p.L241L|SMC2_ENST00000374793.3_Silent_p.L241L|SMC2_ENST00000374787.3_Silent_p.L241L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	241					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TCAGTTTTTGCTGGCTGAAGA	0.333													False	0	True	9:106864325	0	T	106864325	C	T	106864325	2	4	16	1	0	0	0	0	0	0	0	1	14863	796	28	2		2	SMC2	9	106864325	Silent	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	2693799	106864325	34349106	27	1221											
GTF3C5	9328	broad.mit.edu	37	chr9	135917536	135917536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggacccatactgccaCccagtgtgcgccaaccgctt	8	18	0	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr9:135917536C>T	ENST00000372097.5	+	2	539	c.216C>T	c.(214-216)caC>caT	p.H72H	GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372108.5_Silent_p.H72H|GTF3C5_ENST00000342018.8_Silent_p.H72H|GTF3C5_ENST00000372099.6_Silent_p.H63H	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	72						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CATACTGCCACCCAGTGTGCG	0.612													False	0	True	9:135917536	0	T	135917536	C	T	135917536	2	4	16	1	0	0	0	0	0	0	0	1	6923	506	18	2		2	GTF3C5	9	135917536	Silent	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	29053211	135917536	5295895	28	1222											
RET	5979	broad.mit.edu	37	chr10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggactacttggaccttgCggcgtccactccatctgact	9	15	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGGACCTTGCGGCGTCCACT	0.557		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				False	0	False	10:43622039	0	T	43622039	C	T	43622039	3	4	16	1	0	0	0	0	1	0	0	0	13314	768	27	1	3130	1	RET	10	43622039	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08		43622039	91912708	29	1223											
C10orf71	118461	broad.mit.edu	37	chr10	50532475	50532475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttggagatgggtcctgccGgatccagctggtgtccagac	15	10	0	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:50532475G>A	ENST00000374144.3	+	3	2173	c.1885G>A	c.(1885-1887)Gga>Aga	p.G629R	C10orf71_ENST00000323868.4_Missense_Mutation_p.G629R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	629								p.G629*(1)		endometrium(1)	1						GGGTCCTGCCGGATCCAGCTG	0.567													False	0	False	10:50532475	0	A	50532475	G	A	50532475	3	1	16	1	0	0	0	0	1	0	0	0	1622	1117	39	1	1887	1	C10orf71	10	50532475	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	6910436	50532475	85002272	30	1224											
EIF3A	8661	broad.mit.edu	37	chr10	120830492	120830492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattattaagattgattgccGtactttggttatggtggcgc	12	5	0	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:120830492G>A	ENST00000369144.3	-	5	774	c.647C>T	c.(646-648)aCg>aTg	p.T216M	EIF3A_ENST00000541549.1_Missense_Mutation_p.T182M	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	216					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATTGATTGCCGTACTTTGGTT	0.443													False	0	False	10:120830492	0	A	120830492	G	A	120830492	3	1	16	1	0	0	0	0	1	0	0	0	5042	1145	40	1	3573	1	EIF3A	10	120830492	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	70298017	120830492	14704255	31	1225											
INPP5F	22876	broad.mit.edu	37	chr10	121541192	121541192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcagaaagcattggtggGcaaactcccaggagaccatg	13	10	0	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:121541192G>A	ENST00000361976.2	+	3	390	c.224G>A	c.(223-225)gGc>gAc	p.G75D	INPP5F_ENST00000369083.3_Missense_Mutation_p.G75D|INPP5F_ENST00000369081.1_5'UTR	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	75							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GCATTGGTGGGCAAACTCCCA	0.438													False	0	True	10:121541192	0	A	121541192	G	A	121541192	3	1	16	1	0	0	0	0	1	0	0	0	7808	1203	42	2	234	2	INPP5F	10	121541192	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	710700	121541192	13993555	32	1226											
GPR123	84435	broad.mit.edu	37	chr10	134896361	134896361	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggacgcaggccctgtgCggtgaggccttccaacgtaa	13	14	0	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr10:134896361C>T	ENST00000607359.1	+	7	1373	c.1373C>T	c.(1372-1374)gCg>gTg	p.A458V				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	211						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGGCCCTGTGCGGTGAGGCCT	0.662													False	0	False	10:134896361	0	T	134896361	C	T	134896361	5	4	16	1	0	0	0	0	0	0	1	0	6683	783	27	1		1	GPR123	10	134896361	Splice_Site	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	13355169	134896361	638386	33	1227											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643020	1643049	+	In_Frame_Del	DEL	CACAGCCCCCCTTGGAACCCCCACAGGAGA	CACAGCCCCCCTTGGAACCCCCACAGGAGA	-													cttggagcccccacaggagcCacagccccccttggaacccc					rs58877168		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	CACAGCCCCCCTTGGAACCCCCACAGGAGA	CACAGCCCCCCTTGGAACCCCCACAGGAGA	-	-	CACAGCCCCCCTTGGAACCCCCACAGGAGA	CACAGCCCCCCTTGGAACCCCCACAGGAGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:1643020_1643049delCACAGCCCCCCTTGGAACCCCCACAGGAGA	ENST00000399682.1	-	1	319_348	c.275_304delTCTCCTGTGGGGGTTCCAAGGGGGGCTGTG	c.(274-306)gtctcctgtgggggttccaaggggggctgtggc>ggc	p.VSCGGSKGGC92del		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	92	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.V92G(2)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACAGGAGCCACAGCCCCCCTTGGAACCCCCACAGGAGACACAGCCCCC	0.674													False	1	False	11:1643020	0	-	1643049	CACAGCCCCCCTTGGAACCCCCACAGGAGA	-	1643020	7	5	16	1	0	1	0	1	0	0	0	0	8614	594	21	0	386	0	KRTAP5-4	11	1643020	In_Frame_Del	DEL	CACAGCCCCCCTTGGAACCCCCACAGGAGA	TCGA-2L-AAQE-01A-11D-A397-08		1643020	133363496	34	1228											
ANO3	63982	broad.mit.edu	37	chr11	26556047	26556047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcttcagcaatgctactcGaagcagaatagtctatcaca	6	11	4	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:26556047G>A	ENST00000256737.3	+	9	1766	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	ANO3_ENST00000525139.1_Missense_Mutation_p.R289Q|ANO3_ENST00000537978.1_Missense_Mutation_p.R289Q|ANO3_ENST00000531568.1_Missense_Mutation_p.R159Q	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	305						chloride channel complex	chloride channel activity	p.R305Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AATGCTACTCGAAGCAGAATA	0.348													False	0	False	11:26556047	0	A	26556047	G	A	26556047	3	1	16	1	0	0	0	0	1	0	0	0	698	1058	37	1	948	1	ANO3	11	26556047	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	24913027	26556047	108450469	35	1229											
ELP4	26610	broad.mit.edu	37	chr11	31541617	31541617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaggtggaggtttagccGttggaacagttcttctaatt	11	7	2	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:31541617G>A	ENST00000395934.2	+	2	245	c.238G>A	c.(238-240)Gtt>Att	p.V80I	ELP4_ENST00000379163.5_Missense_Mutation_p.V80I|ELP4_ENST00000350638.5_Missense_Mutation_p.V80I			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	80					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGGTTTAGCCGTTGGAACAGT	0.348													False	0	False	11:31541617	0	A	31541617	G	A	31541617	3	1	16	1	0	0	0	0	1	0	0	0	5114	1145	40	1	244	1	ELP4	11	31541617	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	4985570	31541617	103464899	36	1230											
OR5M11	219487	broad.mit.edu	37	chr11	56310189	56310189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagaaagcttaatgagcGgcgggtcagcacagtagaag	13	7	1	3			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:56310189G>A	ENST00000528616.2	-	1	568	c.545C>T	c.(544-546)cCg>cTg	p.P182L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTTAATGAGCGGCGGGTCAGC	0.502													False	0	False	11:56310189	0	A	56310189	G	A	56310189	3	1	16	1	0	0	0	0	1	0	0	0	11242	1116	39	1	375	1	OR5M11	11	56310189	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	24768572	56310189	78696327	37	1231											
GLYATL1	92292	broad.mit.edu	37	chr11	58723412	58723412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaaaatgaagactcccGcagatttgtggggcagtttg	14	6	0	4			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:58723412G>A	ENST00000300079.5	+	7	964	c.914G>A	c.(913-915)cGc>cAc	p.R305H	GLYATL1_ENST00000317391.4_Missense_Mutation_p.R274H|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	274						mitochondrion	glycine N-acyltransferase activity	p.R305H(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GAAGACTCCCGCAGATTTGTG	0.448													False	0	True	11:58723412	0	A	58723412	G	A	58723412	3	1	16	1	0	0	0	0	1	0	0	0	6525	1087	38	1	940	1	GLYATL1	11	58723412	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	2413223	58723412	76283104	38	1232											
AHNAK	79026	broad.mit.edu	37	chr11	62287090	62287090	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttctaacttcggaccTgaaaatccaatttttggtgc	6	12	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:62287090T>C	ENST00000378024.4	-	5	15073	c.14799A>G	c.(14797-14799)tcA>tcG	p.S4933S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4933					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTCGGACCTGAAAATCCAA	0.458													False	0	False	11:62287090	0	C	62287090	T	C	62287090	2	2	16	1	0	0	0	0	0	0	0	1	414	1567	55	4		4	AHNAK	11	62287090	Silent	SNP	T	TCGA-2L-AAQE-01A-11D-A397-08	3563678	62287090	72719426	39	1233											
MARK2	2011	broad.mit.edu	37	chr11	63669692	63669692	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcgacaccatcacccTgaaaccccggccttcagctg	10	16	2	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:63669692T>C	ENST00000402010.2	+	12	1703	c.1124T>C	c.(1123-1125)cTg>cCg	p.L375P	MARK2_ENST00000377810.3_Missense_Mutation_p.L342P|MARK2_ENST00000502399.3_Missense_Mutation_p.L375P|MARK2_ENST00000350490.7_Missense_Mutation_p.L375P|MARK2_ENST00000315032.8_Missense_Mutation_p.L375P|MARK2_ENST00000509502.2_Missense_Mutation_p.L342P|MARK2_ENST00000513765.2_Missense_Mutation_p.L342P|MARK2_ENST00000413835.2_Missense_Mutation_p.L375P|MARK2_ENST00000425897.2_Missense_Mutation_p.L342P|MARK2_ENST00000408948.3_Missense_Mutation_p.L342P|MARK2_ENST00000361128.5_Missense_Mutation_p.L375P|MARK2_ENST00000377809.4_Missense_Mutation_p.L375P|MARK2_ENST00000508192.1_Missense_Mutation_p.L375P	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	375					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						ACCATCACCCTGAAACCCCGG	0.552											OREG0021038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:63669692	0	C	63669692	T	C	63669692	3	2	16	1	0	0	0	0	1	0	0	0	9380	1580	55	4	1170	4	MARK2	11	63669692	Missense_Mutation	SNP	T	TCGA-2L-AAQE-01A-11D-A397-08	1382602	63669692	71336824	40	1234											
KIAA1377	57562	broad.mit.edu	37	chr11	101834466	101834466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcactcaagcagttgcccgGcaagatgcgacattatattg	11	10	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr11:101834466G>A	ENST00000263468.8	+	6	2970	c.2700G>A	c.(2698-2700)cgG>cgA	p.R900R	KIAA1377_ENST00000537689.1_Silent_p.R701R	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	900							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAGTTGCCCGGCAAGATGCGA	0.413													False	0	False	11:101834466	0	A	101834466	G	A	101834466	2	1	16	1	0	0	0	0	0	0	0	1	8277	1190	42	2		2	KIAA1377	11	101834466	Silent	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	38164774	101834466	33172050	41	1235											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	16	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08		25398284	108453611	42	1236											
RND1	27289	broad.mit.edu	37	chr12	49254866	49254866	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caggtctgtcttgcagccaaTgagcaaaacgcgggtgctgg	14	10	2	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr12:49254866T>A	ENST00000309739.5	-	4	497	c.367A>T	c.(367-369)Att>Ttt	p.I123F		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	123					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TTGCAGCCAATGAGCAAAACG	0.552													False	0	False	12:49254866	0	A	49254866	T	A	49254866	3	1	16	1	0	0	0	0	1	0	0	0	13498	1464	51	5	339	5	RND1	12	49254866	Missense_Mutation	SNP	T	TCGA-2L-AAQE-01A-11D-A397-08	23856582	49254866	84597029	43	1237											
ANKS1B	56899	broad.mit.edu	37	chr12	99898356	99898356	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttctcattttctgaaggaaAtgtatccagagaagcagatg	10	6	2	3			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr12:99898356A>T	ENST00000547776.2	-	10	1335	c.1336T>A	c.(1336-1338)Ttt>Att	p.F446I	ANKS1B_ENST00000547010.1_Missense_Mutation_p.F26I|ANKS1B_ENST00000329257.7_Missense_Mutation_p.F446I	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	446						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCTGAAGGAAATGTATCCAGA	0.383													False	0	True	12:99898356	0	T	99898356	A	T	99898356	3	4	16	1	0	0	0	0	1	0	0	0	689	101	4	5	2766	5	ANKS1B	12	99898356	Missense_Mutation	SNP	A	TCGA-2L-AAQE-01A-11D-A397-08	50643490	99898356	33953539	44	1238											
SRRM4	84530	broad.mit.edu	37	chr12	119568554	119568554	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgctgctccaagacccTctgcaaggacagccctgagg	11	17	1	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr12:119568554T>A	ENST00000267260.4	+	8	1074	c.686T>A	c.(685-687)cTc>cAc	p.L229H	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	229	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCCAAGACCCTCTGCAAGGAC	0.652													False	0	True	12:119568554	0	A	119568554	T	A	119568554	3	1	16	1	0	0	0	0	1	0	0	0	15253	1551	54	5	716	5	SRRM4	12	119568554	Missense_Mutation	SNP	T	TCGA-2L-AAQE-01A-11D-A397-08	19670198	119568554	14283341	45	1239											
PRMT5	10419	broad.mit.edu	37	chr14	23398431	23398431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccccgagttcggaccccGcattccgctcgtggaggtcc	12	17	0	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr14:23398431G>A	ENST00000397441.2	-	1	179	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	PRMT5_ENST00000553897.1_Intron|PRMT5_ENST00000216350.8_Missense_Mutation_p.R2W|PRMT5_ENST00000397440.4_Missense_Mutation_p.R2W|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000553641.1_5'UTR	NM_001039619.1	NP_001034708.1	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	0					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TTCGGACCCCGCATTCCGCTC	0.627													False	0	True	14:23398431	0	A	23398431	G	A	23398431	3	1	16	1	0	0	0	0	1	0	0	0	12615	1086	38	1	1926	1	PRMT5	14	23398431	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		23398431	83951109	46	1240											
LTB4R	1241	broad.mit.edu	37	chr14	24784967	24784967	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtggggcttcccggcaacaGctttgtggtgtggagtatcc	15	9	0	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr14:24784967G>C	ENST00000396789.4	+	2	1835	c.110G>C	c.(109-111)aGc>aCc	p.S37T	LTB4R_ENST00000396782.2_Missense_Mutation_p.S37T|LTB4R_ENST00000345363.3_Missense_Mutation_p.S37T	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	37					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CCCGGCAACAGCTTTGTGGTG	0.577													False	0	False	14:24784967	0	C	24784967	G	C	24784967	3	2	16	1	0	0	0	0	1	0	0	0	9133	971	34	5	112	5	LTB4R	14	24784967	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	1386536	24784967	82564573	47	1241											
AHNAK2	113146	broad.mit.edu	37	chr14	105416378	105416378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaggtcaccctccagccGcacactgtccagcttggctc	10	17	1	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr14:105416378G>A	ENST00000333244.5	-	7	5529	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1804						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTCCAGCCGCACACTGTCC	0.622													False	0	False	14:105416378	0	A	105416378	G	A	105416378	3	1	16	1	0	0	0	0	1	0	0	0	415	1086	38	1	11981	1	AHNAK2	14	105416378	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	80631411	105416378	1933162	48	1242											
SNRPN	6638	broad.mit.edu	37	chr15	25223413	25223413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccccctgctcgagggacGccaataggcatgccgcctcc	10	18	0	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr15:25223413G>A	ENST00000444203.2	+	7	1684	c.645G>A	c.(643-645)acG>acA	p.T215T	SNRPN_ENST00000390687.4_Silent_p.T211T|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Silent_p.T211T|SNRPN_ENST00000554227.2_Silent_p.T215T|SNRPN_ENST00000577565.1_Silent_p.T211T|SNRPN_ENST00000400100.1_Silent_p.T211T|SNRPN_ENST00000400098.1_Silent_p.T211T|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400097.1_Silent_p.T211T			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	211	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CTCGAGGGACGCCAATAGGCA	0.557									Prader-Willi syndrome				False	0	False	15:25223413	0	A	25223413	G	A	25223413	2	1	16	1	0	0	0	0	0	0	0	1	14950	1074	38	1		1	SNRPN	15	25223413	Silent	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		25223413	77307979	49	1243											
TYRO3	7301	broad.mit.edu	37	chr15	41857341	41857342	+	Splice_Site	INS	-	-	G													cagtcctgtacagttcaggtINSaggctctccgggccgggcca							TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579													False	0	False	15:41857341	0	G	41857342	-	G	41857341	8	5	16	1	0	1	1	0	0	0	1	0	16898	1652	57	0	807	0	TYRO3	15	41857341	Splice_Site	INS	-	TCGA-2L-AAQE-01A-11D-A397-08	16633928	41857341	60674051	50	1244											
ABCC1	4363	broad.mit.edu	37	chr16	16150130	16150130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagccgtgggcaccttcaCctgggtctgcacgccctttc	11	16	3	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr16:16150130C>T	ENST00000399408.2	+	12	1830	c.1655C>T	c.(1654-1656)aCc>aTc	p.T552I	ABCC1_ENST00000346370.5_Missense_Mutation_p.T552I|ABCC1_ENST00000349029.5_Missense_Mutation_p.T552I|ABCC1_ENST00000351154.5_Missense_Mutation_p.T552I|ABCC1_ENST00000345148.5_Missense_Mutation_p.T552I|ABCC1_ENST00000399410.3_Missense_Mutation_p.T552I			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	552	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCACCTTCACCTGGGTCTGC	0.517													False	0	False	16:16150130	0	T	16150130	C	T	16150130	3	4	16	1	0	0	0	0	1	0	0	0	49	507	18	2	1701	2	ABCC1	16	16150130	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08		16150130	74204623	51	1245											
XYLT1	64131	broad.mit.edu	37	chr16	17235134	17235134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccgaaccgccatccacgGcaatgccctctgggatccgc	10	17	1	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr16:17235134G>A	ENST00000261381.6	-	7	1547	c.1463C>T	c.(1462-1464)gCc>gTc	p.A488V		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	488					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCATCCACGGCAATGCCCTC	0.577													False	0	False	16:17235134	0	A	17235134	G	A	17235134	3	1	16	1	0	0	0	0	1	0	0	0	17547	1203	42	2	1440	2	XYLT1	16	17235134	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	1085004	17235134	73119619	52	1246											
TMC7	79905	broad.mit.edu	37	chr16	19067891	19067891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgaaagcctgtgggccGttcaccaacttcaacaccac	7	16	2	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr16:19067891G>A	ENST00000421369.3	+	14	2127	c.1569G>A	c.(1567-1569)ccG>ccA	p.P523P	TMC7_ENST00000304381.5_Silent_p.P633P|TMC7_ENST00000569532.1_Silent_p.P633P	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	633						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCTGTGGGCCGTTCACCAACT	0.602													False	0	False	16:19067891	0	A	19067891	G	A	19067891	2	1	16	1	0	0	0	0	0	0	0	1	16072	1132	40	1		1	TMC7	16	19067891	Silent	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	1832757	19067891	71286862	53	1247											
ITGAX	3687	broad.mit.edu	37	chr16	31391078	31391078	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcagtgccctctgtgcagGtcaataacctgggacagagg	12	12	3	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr16:31391078G>T	ENST00000268296.4	+	25	2990	c.2869G>T	c.(2869-2871)Gtc>Ttc	p.V957F	ITGAX_ENST00000562522.1_Splice_Site_p.V957F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	957					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTCTGTGCAGGTCAATAACCT	0.627													False	0	False	16:31391078	0	T	31391078	G	T	31391078	5	4	16	1	0	0	0	0	0	0	1	0	7939	1275	44	3	2967	3	ITGAX	16	31391078	Splice_Site	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	12323187	31391078	58963675	54	1248											
TP53	7157	broad.mit.edu	37	chr17	7579575	7579575	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaaatcatccattgcttGggacggcaagggggactgta	12	9	2	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr17:7579575G>A	ENST00000420246.2	-	4	244	c.112C>T	c.(112-114)Caa>Taa	p.Q38*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q38*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q38*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q38*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q38*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	38	Interaction with HRMT1L2.|Transcription activation (acidic).				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCATTGCTTGGGACGGCAAG	0.592		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)			False	0	True	17:7579575	0	A	7579575	G	A	7579575	4	1	16	1	0	0	0	0	0	1	0	0	16464	1357	47	2	1190	2	TP53	17	7579575	Nonsense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		7579575	73615635	55	1249											
TEX14	56155	broad.mit.edu	37	chr17	56659016	56659016	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtcgaggagtaaaaatattCaccgtctggagttaaaaatt	9	5	2	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr17:56659016C>G	ENST00000389934.3	-	20	3364	c.3247G>C	c.(3247-3249)Gaa>Caa	p.E1083Q	TEX14_ENST00000240361.8_Missense_Mutation_p.E1089Q|TEX14_ENST00000349033.5_Intron	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1089						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAAAAATATTCACCGTCTGGA	0.368													False	0	False	17:56659016	0	G	56659016	C	G	56659016	3	3	16	1	0	0	0	0	1	0	0	0	15860	835	29	5	1284	5	TEX14	17	56659016	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	49079441	56659016	24536194	56	1250											
SLC14A2	8170	broad.mit.edu	37	chr18	43248375	43248375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggggctgctgatggccGtgttctcagacaaaggtgac	16	8	1	3			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr18:43248375G>A	ENST00000255226.6	+	15	2785	c.1969G>A	c.(1969-1971)Gtg>Atg	p.V657M	SLC14A2_ENST00000586448.1_Missense_Mutation_p.V657M|SLC14A2_ENST00000589658.1_Missense_Mutation_p.V134M	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	657						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGATGGCCGTGTTCTCAGA	0.557													False	0	False	18:43248375	0	A	43248375	G	A	43248375	3	1	16	1	0	0	0	0	1	0	0	0	14478	1145	40	1	2023	1	SLC14A2	18	43248375	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		43248375	34828873	57	1251											
FBN3	84467	broad.mit.edu	37	chr19	8155007	8155007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctcctggggacacagttCgcaggggtctccccagccct	12	17	1	0	rs149936210		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:8155007C>T	ENST00000600128.1	-	49	6574	c.6160G>A	c.(6160-6162)Gaa>Aaa	p.E2054K	FBN3_ENST00000270509.2_Missense_Mutation_p.E2054K|FBN3_ENST00000601739.1_Missense_Mutation_p.E2054K			Q75N90	FBN3_HUMAN	fibrillin 3	2054	TB 8.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGACACAGTTCGCAGGGGTCT	0.612													False	0	False	19:8155007	0	T	8155007	C	T	8155007	3	4	16	1	0	0	0	0	1	0	0	0	5744	893	31	1	2333	1	FBN3	19	8155007	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08		8155007	50973976	58	1252											
OR7D2	162998	broad.mit.edu	37	chr19	9296821	9296821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgtgatggcctatgacCggtttgtggctgtctgccac	13	11	1	3	rs150499443		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:9296821C>T	ENST00000344248.2	+	1	543	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	122					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GGCCTATGACCGGTTTGTGGC	0.507													False	0	False	19:9296821	0	T	9296821	C	T	9296821	3	4	16	1	0	0	0	0	1	0	0	0	11287	643	23	1	366	1	OR7D2	19	9296821	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	1141814	9296821	49832162	59	1253											
DAND5	199699	broad.mit.edu	37	chr19	13084387	13084387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggcagctcagcctcccGtcgacgggtgaagatatcca	11	14	1	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:13084387G>A	ENST00000317060.2	+	2	688	c.509G>A	c.(508-510)cGt>cAt	p.R170H	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	170	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			TCAGCCTCCCGTCGACGGGTG	0.602													False	0	True	19:13084387	0	A	13084387	G	A	13084387	3	1	16	1	0	0	0	0	1	0	0	0	4255	1145	40	1	515	1	DAND5	19	13084387	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	3787566	13084387	46044596	60	1254											
DMKN	93099	broad.mit.edu	37	chr19	36004243	36004243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccccttcgctcagggcGtctcccaggccatgtccaag	9	19	2	0	rs113646456		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:36004243G>A	ENST00000339686.3	-	1	311	c.135C>T	c.(133-135)gaC>gaT	p.D45D	DMKN_ENST00000424570.2_Silent_p.D45D|DMKN_ENST00000440396.1_Silent_p.D45D|DMKN_ENST00000451297.2_Silent_p.D45D|DMKN_ENST00000429837.1_Silent_p.D45D|DMKN_ENST00000419602.1_Silent_p.D45D|DMKN_ENST00000447113.2_Silent_p.D45D|DMKN_ENST00000418261.1_Silent_p.D45D	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	45	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGCTCAGGGCGTCTCCCAGGC	0.642													False	0	False	19:36004243	0	A	36004243	G	A	36004243	2	1	16	1	0	0	0	0	0	0	0	1	4612	1136	40	1		1	DMKN	19	36004243	Silent	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	22919856	36004243	23124740	61	1255											
ZNF780B	163131	broad.mit.edu	37	chr19	40541025	40541025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattcaaagggtttctttcCggtatgaatacttcgatgtt	8	7	2	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:40541025C>T	ENST00000434248.1	-	5	1806	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G433R	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G581R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTTTCTTTCCGGTATGAATA	0.388													False	0	True	19:40541025	0	T	40541025	C	T	40541025	3	4	16	1	0	0	0	0	1	0	0	0	18235	661	23	1	764	1	ZNF780B	19	40541025	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	4536782	40541025	18587958	62	1256											
HIF3A	64344	broad.mit.edu	37	chr19	46834437	46834437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccagagctcagaggaCgaggacgagggagtggagct	18	9	1	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:46834437C>T	ENST00000339613.2	+	13	1824	c.1569C>T	c.(1567-1569)gaC>gaT	p.D523D	HIF3A_ENST00000600383.1_Silent_p.D510D|HIF3A_ENST00000300862.3_Silent_p.D577D|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Silent_p.D510D|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000420102.2_Silent_p.D528D|HIF3A_ENST00000377670.4_Silent_p.D579D			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	579	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.D577D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCTCAGAGGACGAGGACGAGG	0.552													False	0	True	19:46834437	0	T	46834437	C	T	46834437	2	4	16	1	0	0	0	0	0	0	0	1	7152	535	19	1		1	HIF3A	19	46834437	Silent	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	6293412	46834437	12294546	63	1257											
BCAT2	587	broad.mit.edu	37	chr19	49300574	49300574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcctgttgcactaacaCggtgggcccataattcctgg	10	13	0	0	rs139881168		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:49300574C>T	ENST00000402551.1	-	8	1212	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	BCAT2_ENST00000597011.1_Missense_Mutation_p.V198M|BCAT2_ENST00000598162.1_Missense_Mutation_p.V238M|BCAT2_ENST00000599246.1_Missense_Mutation_p.V146M|BCAT2_ENST00000545387.2_Missense_Mutation_p.V146M|BCAT2_ENST00000316273.6_Missense_Mutation_p.V238M	NM_001284325.1	NP_001271254.1	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	238						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TGCACTAACACGGTGGGCCCA	0.617													False	0	False	19:49300574	0	T	49300574	C	T	49300574	3	4	16	1	0	0	0	0	1	0	0	0	1359	536	19	1	486	1	BCAT2	19	49300574	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	2466137	49300574	9828409	64	1258											
KLK13	26085	broad.mit.edu	37	chr19	51561829	51561829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccctcttttgtgccgGcacacaacatgttgtcagtg	9	13	2	0			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr19:51561829G>A	ENST00000595793.1	-	4	653	c.611C>T	c.(610-612)gCc>gTc	p.A204V	KLK13_ENST00000335422.3_Missense_Mutation_p.A52V|KLK13_ENST00000595547.1_Missense_Mutation_p.A131V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	204	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTTTGTGCCGGCACACAACAT	0.512													False	0	True	19:51561829	0	A	51561829	G	A	51561829	3	1	16	1	0	0	0	0	1	0	0	0	8451	1203	42	2	230	2	KLK13	19	51561829	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	2261255	51561829	7567154	65	1259											
CHD6	0	broad.mit.edu	37	chr20	40052243	40052243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaaacgggaaatgatgcGgaactgtgtccagtcaaagg	13	8	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr20:40052243G>A	ENST00000373233.3	-	30	4621	c.4444C>T	c.(4444-4446)Cgc>Tgc	p.R1482C		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1482					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAAATGATGCGGAACTGTGTC	0.443													False	0	False	20:40052243	0	A	40052243	G	A	40052243	3	1	16	1	0	0	0	0	1	0	0	0	3352	1116	39	1	3735	1	CHD6	20	40052243	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		40052243	22973277	66	1260											
PTK6	5753	broad.mit.edu	37	chr20	62166328	62166328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactcggcttctcgctgacCctgatcaggaaggcgcccgt	12	15	2	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr20:62166328C>T	ENST00000217185.2	-	2	342	c.315G>A	c.(313-315)agG>agA	p.R105R	PTK6_ENST00000542869.1_Intron	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	105	SH2.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TCTCGCTGACCCTGATCAGGA	0.692													False	0	True	20:62166328	0	T	62166328	C	T	62166328	2	4	16	1	0	0	0	0	0	0	0	1	12841	622	22	2		2	PTK6	20	62166328	Silent	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	22114085	62166328	859192	67	1261											
CCT8	10694	broad.mit.edu	37	chr21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgagaagccattacaAtcatttttgcagcaggatgc	9	8	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr21:30440001A>G	ENST00000286788.4	-	4	463	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	86					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368													False	0	False	21:30440001	0	G	30440001	A	G	30440001	3	3	16	1	0	0	0	0	1	0	0	0	2983	101	4	4	1437	4	CCT8	21	30440001	Missense_Mutation	SNP	A	TCGA-2L-AAQE-01A-11D-A397-08		30440001	17689894	68	1262											
TIAM1	7074	broad.mit.edu	37	chr21	32502539	32502539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagagtttacctgcactcGccaaagctcgaacctgcagc	10	13	0	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr21:32502539G>A	ENST00000286827.3	-	26	4508	c.4037C>T	c.(4036-4038)gCg>gTg	p.A1346V	TIAM1_ENST00000541036.1_Missense_Mutation_p.A1286V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1346	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACCTGCACTCGCCAAAGCTCG	0.473													False	0	False	21:32502539	0	A	32502539	G	A	32502539	3	1	16	1	0	0	0	0	1	0	0	0	15972	1087	38	1	754	1	TIAM1	21	32502539	Missense_Mutation	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08	2062538	32502539	15627356	69	1263											
DOPEY2	9980	broad.mit.edu	37	chr21	37609569	37609569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgtcccagagggtggctCgtgtgctttggaatcagctg	14	10	1	1			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr21:37609569C>T	ENST00000399151.3	+	16	2717	c.2632C>T	c.(2632-2634)Cgt>Tgt	p.R878C		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	878					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAGGGTGGCTCGTGTGCTTTG	0.587													False	0	False	21:37609569	0	T	37609569	C	T	37609569	3	4	16	1	0	0	0	0	1	0	0	0	4738	884	31	1	2690	1	DOPEY2	21	37609569	Missense_Mutation	SNP	C	TCGA-2L-AAQE-01A-11D-A397-08	5107030	37609569	10520326	70	1264											
ZNF280A	129025	broad.mit.edu	37	chr22	22869193	22869193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttgctagacttgaaatGtctgtcattgccaggccaga	10	9	2	4			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chr22:22869193G>A	ENST00000302097.3	-	2	1014	c.762C>T	c.(760-762)gaC>gaT	p.D254D		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GACTTGAAATGTCTGTCATTG	0.408													False	0	True	22:22869193	0	A	22869193	G	A	22869193	2	1	16	1	0	0	0	0	0	0	0	1	17897	1368	48	2		2	ZNF280A	22	22869193	Silent	SNP	G	TCGA-2L-AAQE-01A-11D-A397-08		22869193	28435373	71	1265											
MAGEB2	4113	broad.mit.edu	37	chrX	30237553	30237553	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctatgctgaaaccagcaagAtgaaagtcctggagtttttg	10	8	0	3			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chrX:30237553A>T	ENST00000378988.4	+	2	957	c.856A>T	c.(856-858)Atg>Ttg	p.M286L		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	286	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AACCAGCAAGATGAAAGTCCT	0.507													False	0	False	X:30237553	0	T	30237553	A	T	30237553	3	4	16	1	0	0	0	0	1	0	0	0	9243	333	12	5	858	5	MAGEB2	23	30237553	Missense_Mutation	SNP	A	TCGA-2L-AAQE-01A-11D-A397-08		30237553	125033007	72	1266											
KDM6A	7403	broad.mit.edu	37	chrX	44911012	44911030	+	Frame_Shift_Del	DEL	CTGCACAAGTAAAAGCAAC	CTGCACAAGTAAAAGCAAC	-													tttgcagacagagaatctttCtgcacaagtaaaagcaactg					rs151193716		TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	CTGCACAAGTAAAAGCAAC	CTGCACAAGTAAAAGCAAC	-	-	CTGCACAAGTAAAAGCAAC	CTGCACAAGTAAAAGCAAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chrX:44911012_44911030delCTGCACAAGTAAAAGCAAC	ENST00000377967.4	+	9	754_772	c.713_731delCTGCACAAGTAAAAGCAAC	c.(712-732)tctgcacaagtaaaagcaactfs	p.SAQVKAT238fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.SAQVKAT238fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.SAQVKAT238fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.SAQVKAT238fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	238					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAGAATCTTTCTGCACAAGTAAAAGCAACTGTCTTACAA	0.32			"D, N, F, S"		"renal, oesophageal SCC, MM"								False	1	True	X:44911012	0	-	44911030	CTGCACAAGTAAAAGCAAC	-	44911012	7	5	16	1	0	1	0	1	0	0	0	0	8187	913	32	0	747	0	KDM6A	23	44911012	Frame_Shift_Del	DEL	CTGCACAAGTAAAAGCAAC	TCGA-2L-AAQE-01A-11D-A397-08	14673459	44911012	110359548	73	1267											
MAGEE2	139599	broad.mit.edu	37	chrX	75004114	75004114	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctttgtgatttccctgTgggctctagagccccacaag	9	13	2	2			TCGA-2L-AAQE-01A-11D-A397-08	TCGA-2L-AAQE-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d57069ad-4f07-4f3d-93a2-16b0c4a51325	43d83c90-8211-4c2a-92c4-eee9c092680e	g.chrX:75004114T>C	ENST00000373359.2	-	1	965	c.773A>G	c.(772-774)cAc>cGc	p.H258R		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	258	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GATTTCCCTGTGGGCTCTAGA	0.498													False	0	True	X:75004114	0	C	75004114	T	C	75004114	3	2	16	1	0	0	0	0	1	0	0	0	9253	1696	59	4	802	4	MAGEE2	23	75004114	Missense_Mutation	SNP	T	TCGA-2L-AAQE-01A-11D-A397-08	30093102	75004114	80266446	74	1268											
CA6	765	broad.mit.edu	37	chr1	9011714	9011714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcccaaggggcttgcagCggctcccgcctcccaatttc	10	17	0	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:9011714C>T	ENST00000480186.3	+	3	497	c.492C>T	c.(490-492)agC>agT	p.S164S	CA6_ENST00000377442.2_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000476083.1_Intron			P23280	CAH6_HUMAN	carbonic anhydrase VI						one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCTTGCAGCGGCTCCCGCC	0.577													False	0	False	1:9011714	0	T	9011714	C	T	9011714	2	4	17	1	0	0	0	0	0	0	0	1	2541	783	27	1		1	CA6	1	9011714	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		9011714	240238907	1	1269											
CTRC	11330	broad.mit.edu	37	chr1	15769925	15769925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattccagcaatgatattgCcctcatcaagcttgcagagc	9	11	2	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:15769925C>T	ENST00000375943.2	+	3	201	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375949.4_Missense_Mutation_p.A123V			Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	0	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATGATATTGCCCTCATCAAG	0.592													False	0	True	1:15769925	0	T	15769925	C	T	15769925	3	4	17	1	0	0	0	0	1	0	0	0	4052	739	26	2	386	2	CTRC	1	15769925	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	6758211	15769925	233480696	2	1270											
NBPF9	400818	broad.mit.edu	37	chr1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A													agtcttgcaggactcactggGtagatggtattcgactcctt					rs558823		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron	NM_001037675.2	NP_001032764.2			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493													False	0	True	1:144825409	0	A	144825409	G	A	144825409	3	1	17	1	0	0	0	0	1	0	0	0	10267	1261	44	2	2195	2	NBPF9	1	144825409	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	129055484	144825409	104425212	3	1271	11	2									
NBPF9	400818	broad.mit.edu	37	chr1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T													caggactcactgggtagatgGtattcgactccttcaggtta							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron	NM_001037675.2	NP_001032764.2			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498													False	0	False	1:144825416	0	T	144825416	G	T	144825416	3	4	17	1	0	0	0	0	1	0	0	0	10267	1270	44	3	2202	3	NBPF9	1	144825416	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	7	144825416	104425205	4	1272	11	2									
FLG	2312	broad.mit.edu	37	chr1	152281106	152281106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaggaaagaccctgaacGtccagagctttcccctgact	10	12	0	5	rs146352383		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:152281106G>A	ENST00000368799.1	-	3	6291	c.6256C>T	c.(6256-6258)Cgt>Tgt	p.R2086C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2086	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R2086C(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAACGTCCAGAGCTT	0.562									Ichthyosis				False	0	False	1:152281106	0	A	152281106	G	A	152281106	3	1	17	1	0	0	0	0	1	0	0	0	5962	1145	40	1	5933	1	FLG	1	152281106	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	7455690	152281106	96969515	5	1273											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	17	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-2L-AAQI-01A-12D-A397-08	390409	152671515	96579106	6	1274											
NES	10763	broad.mit.edu	37	chr1	156641485	156641485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccaggttctcttgtcccGcagacttcagtgattctagg	9	11	3	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:156641485G>A	ENST00000368223.3	-	4	2627	c.2495C>T	c.(2494-2496)gCg>gTg	p.A832V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	832	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCTTGTCCCGCAGACTTCAG	0.413													False	0	True	1:156641485	0	A	156641485	G	A	156641485	3	1	17	1	0	0	0	0	1	0	0	0	10405	1087	38	1	2374	1	NES	1	156641485	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	3969970	156641485	92609136	7	1275											
NHLH1	4807	broad.mit.edu	37	chr1	160340909	160340909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatctcctacctgaaccacGtgctggacgtctgaactcag	8	13	3	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:160340909G>A	ENST00000302101.5	+	2	834	c.388G>A	c.(388-390)Gtg>Atg	p.V130M		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	130					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGAACCACGTGCTGGACGT	0.622													False	0	False	1:160340909	0	A	160340909	G	A	160340909	3	1	17	1	0	0	0	0	1	0	0	0	10471	1145	40	1	390	1	NHLH1	1	160340909	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	3699424	160340909	88909712	8	1276											
OR2M2	391194	broad.mit.edu	37	chr1	248344094	248344094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatctgatcactccccaacGcaggacaagatggtgtctgt	9	12	3	2	rs140026971		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr1:248344094G>A	ENST00000359682.2	+	1	807	c.807G>A	c.(805-807)acG>acA	p.T269T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T269T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			ACTCCCCAACGCAGGACAAGA	0.502													False	0	False	1:248344094	0	A	248344094	G	A	248344094	2	1	17	1	0	0	0	0	0	0	0	1	11078	1074	38	1		1	OR2M2	1	248344094	Silent	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	88003185	248344094	906527	9	1277											
IKZF2	22807	broad.mit.edu	37	chr2	213872107	213872107	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggaatgtgtgctcccctcGaacaatgtgtgatgaaaact	11	8	0	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:213872107G>A	ENST00000457361.1	-	8	1726	c.1558C>T	c.(1558-1560)Cga>Tga	p.R520*	AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.R494*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.R446*|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.R375*|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.R448*|IKZF2_ENST00000434687.1_Nonsense_Mutation_p.R520*|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.R526*	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGCTCCCCTCGAACAATGTGT	0.483													False	0	False	2:213872107	0	A	213872107	G	A	213872107	4	1	17	1	0	0	0	0	0	1	0	0	7665	1066	37	1	26	1	IKZF2	2	213872107	Nonsense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08		213872107	29327266	10	1278											
UGT1A10	0	broad.mit.edu	37	chr2	234545974	234545974	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaacccgtgatgcccaacaTgatcttcattggtggtatca	8	11	3	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr2:234545974T>G	ENST00000344644.5	+	1	875	c.806T>G	c.(805-807)aTg>aGg	p.M269R	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.M269R	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATGCCCAACATGATCTTCATT	0.433													False	0	False	2:234545974	0	G	234545974	T	G	234545974	3	3	17	1	0	0	0	0	1	0	0	0	17029	1464	51	4	808	4	UGT1A10	2	234545974	Missense_Mutation	SNP	T	TCGA-2L-AAQI-01A-12D-A397-08	20673867	234545974	8653399	11	1279											
SLC6A1	6529	broad.mit.edu	37	chr3	11064024	11064024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccactgtttgaccaggcGcaacatgcatcagatgacgg	10	13	1	3			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:11064024G>A	ENST00000287766.4	+	7	1005	c.584G>A	c.(583-585)cGc>cAc	p.R195H	SLC6A1_ENST00000536032.1_Missense_Mutation_p.R17H	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	195					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TTGACCAGGCGCAACATGCAT	0.597													False	0	False	3:11064024	0	A	11064024	G	A	11064024	3	1	17	1	0	0	0	0	1	0	0	0	14753	1087	38	1	602	1	SLC6A1	3	11064024	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08		11064024	186958406	12	1280											
FYCO1	79443	broad.mit.edu	37	chr3	46021250	46021250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggctcctttcaccttggCcaggcaggcacagaagtaat	10	11	1	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:46021250C>T	ENST00000296137.2	-	4	440	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	FYCO1_ENST00000535325.1_Missense_Mutation_p.A79T	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	79	RUN.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTCACCTTGGCCAGGCAGGCA	0.517													False	0	True	3:46021250	0	T	46021250	C	T	46021250	3	4	17	1	0	0	0	0	1	0	0	0	6167	739	26	2	4261	2	FYCO1	3	46021250	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	34957226	46021250	152001180	13	1281											
SFMBT1	51460	broad.mit.edu	37	chr3	52939159	52939159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggttgtccttctcagttgGcaaactgctcataaaaagca	8	9	2	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:52939159G>A	ENST00000394752.3	-	21	2976	c.2594C>T	c.(2593-2595)gCc>gTc	p.A865V	SFMBT1_ENST00000296295.6_Missense_Mutation_p.A822V|SFMBT1_ENST00000394750.1_Missense_Mutation_p.A865V|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A865V	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	865					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TTCTCAGTTGGCAAACTGCTC	0.448													False	0	False	3:52939159	0	A	52939159	G	A	52939159	3	1	17	1	0	0	0	0	1	0	0	0	14238	1203	42	2	10	2	SFMBT1	3	52939159	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	6917909	52939159	145083271	14	1282											
CACNA2D3	55799	broad.mit.edu	37	chr3	54604065	54604065	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggactccgtctgactatCgcgaagcaaacagtctcatc	8	12	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:54604065C>T	ENST00000474759.1	+	8	870	c.822C>T	c.(820-822)atC>atT	p.I274I	CACNA2D3_ENST00000288197.5_Silent_p.I274I|CACNA2D3_ENST00000490478.1_Silent_p.I180I|CACNA2D3_ENST00000415676.2_Silent_p.I274I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	274	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTCTGACTATCGCGAAGCAAA	0.463													False	0	False	3:54604065	0	T	54604065	C	T	54604065	2	4	17	1	0	0	0	0	0	0	0	1	2570	874	31	1		1	CACNA2D3	3	54604065	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	1664906	54604065	143418365	15	1283											
GPR128	84873	broad.mit.edu	37	chr3	100365534	100365534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggattcctgcgctgccGctgcaaccatactactaatt	8	12	0	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:100365534G>A	ENST00000273352.3	+	10	1500	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	GPR128_ENST00000475887.1_Missense_Mutation_p.R116H	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	411	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CTGCGCTGCCGCTGCAACCAT	0.418													False	0	True	3:100365534	0	A	100365534	G	A	100365534	3	1	17	1	0	0	0	0	1	0	0	0	6687	1087	38	1	1270	1	GPR128	3	100365534	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	45761469	100365534	97656896	16	1284											
KALRN	8997	broad.mit.edu	37	chr3	123813627	123813627	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggcctcctcgagtcagcGgtggtgggatgaggctctgc	16	12	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:123813627G>A	ENST00000360013.3	+	0	70				KALRN_ENST00000477496.1_3'UTR|KALRN_ENST00000460856.1_De_novo_Start_InFrame|KALRN_ENST00000240874.3_De_novo_Start_InFrame	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCGAGTCAGCGGTGGTGGGAT	0.602													False	0	False	3:123813627	0	A	123813627	G	A	123813627	1	1	17	1	0	0	0	0	0	0	0	0	8025	1131	39	1		1	KALRN	3	123813627	Translation_Start_Site	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	23448093	123813627	74208803	17	1285											
C3orf27	23434	broad.mit.edu	37	chr3	128292432	128292432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccacaatgcctagaagCttccaaccaccctggcccag	7	18	0	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:128292432C>T	ENST00000356020.2	-	3	1107	c.141G>A	c.(139-141)aaG>aaA	p.K47K		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	47										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		TGCCTAGAAGCTTCCAACCAC	0.627													False	0	False	3:128292432	0	T	128292432	C	T	128292432	2	4	17	1	0	0	0	0	0	0	0	1	2235	796	28	2		2	C3orf27	3	128292432	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	4478805	128292432	69729998	18	1286											
MED12L	116931	broad.mit.edu	37	chr3	150908624	150908624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtaccctcatatctcgagGagatttgtcagtcactgcct	9	11	4	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr3:150908624G>A	ENST00000474524.1	+	13	1912	c.1874G>A	c.(1873-1875)gGa>gAa	p.G625E	MED12L_ENST00000422248.2_Missense_Mutation_p.G625E|MED12L_ENST00000273432.4_Missense_Mutation_p.G485E|MED12L_ENST00000309237.4_Missense_Mutation_p.G625E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	625					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATATCTCGAGGAGATTTGTCA	0.488													False	0	False	3:150908624	0	A	150908624	G	A	150908624	3	1	17	1	0	0	0	0	1	0	0	0	9496	1174	41	2	1924	2	MED12L	3	150908624	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	22616192	150908624	47113806	19	1287											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	17	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-2L-AAQI-01A-12D-A397-08		40434705	150719571	20	1288											
ADAMTS12	81792	broad.mit.edu	37	chr5	33683131	33683131	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaaaatgttacctcttcttCttcgagtagaatgagccgaa	7	8	3	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:33683131C>A	ENST00000504830.1	-	5	1242	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E303*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	303	Peptidase M12B.|Poly-Glu.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACCTCTTCTTCTTCGAGTAGA	0.428										HNSCC(64;0.19)			False	0	True	5:33683131	0	A	33683131	C	A	33683131	4	1	17	1	0	0	0	0	0	1	0	0	257	922	32	3	3957	3	ADAMTS12	5	33683131	Nonsense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		33683131	147232129	21	1289											
DIAPH1	1729	broad.mit.edu	37	chr5	140908065	140908065	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aagctcgtctggaaacttgaGgacatcgggatagtcattct	11	8	3	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:140908065G>C	ENST00000253811.6	-	23	3246	c.3106C>G	c.(3106-3108)Ctc>Gtc	p.L1036V	DIAPH1_ENST00000398557.4_Missense_Mutation_p.L1035V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L1011V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L978V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L1027V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.L1032V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L1026V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L1023V			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1035	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAACTTGAGGACATCGGGA	0.502													False	0	False	5:140908065	0	C	140908065	G	C	140908065	3	2	17	1	0	0	0	0	1	0	0	0	4548	1000	35	5	739	5	DIAPH1	5	140908065	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	107224934	140908065	40007195	22	1290											
NDST1	3340	broad.mit.edu	37	chr5	149907823	149907823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgatgacatcttcgtggGcaaggagggcacacgcatga	13	9	1	3			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:149907823G>A	ENST00000261797.6	+	3	1473	c.971G>A	c.(970-972)gGc>gAc	p.G324D	NDST1_ENST00000523767.1_Missense_Mutation_p.G324D	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	324	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTTCGTGGGCAAGGAGGGC	0.612													False	0	True	5:149907823	0	A	149907823	G	A	149907823	3	1	17	1	0	0	0	0	1	0	0	0	10323	1203	42	2	977	2	NDST1	5	149907823	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	8999758	149907823	31007437	23	1291											
NSD1	64324	broad.mit.edu	37	chr5	176562876	176562876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcccttctcccagcccccTtttcactaggagacacaaac	5	18	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr5:176562876T>C	ENST00000439151.2	+	2	817	c.772T>C	c.(772-774)Ttt>Ctt	p.F258L	NSD1_ENST00000361032.4_Missense_Mutation_p.F258L|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000354179.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	258					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCCAGCCCCCTTTTCACTAGG	0.398			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			False	0	True	5:176562876	0	C	176562876	T	C	176562876	3	2	17	1	0	0	0	0	1	0	0	0	10737	1609	56	4	774	4	NSD1	5	176562876	Missense_Mutation	SNP	T	TCGA-2L-AAQI-01A-12D-A397-08	26655053	176562876	4352384	24	1292											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	17	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-2L-AAQI-01A-12D-A397-08		7393450	163721617	25	1293											
KDM1B	221656	broad.mit.edu	37	chr6	18171668	18171668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttactccacagatagcCaagacttatcgatgcggtat	8	11	0	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:18171668C>T	ENST00000388870.2	+	7	733	c.492C>T	c.(490-492)gcC>gcT	p.A164A	KDM1B_ENST00000297792.5_Silent_p.A164A|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Silent_p.A164A			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	164					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CACAGATAGCCAAGACTTATC	0.363													False	0	False	6:18171668	0	T	18171668	C	T	18171668	2	4	17	1	0	0	0	0	0	0	0	1	8173	581	21	2		2	KDM1B	6	18171668	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	10778218	18171668	152943399	26	1294											
RNF39	80352	broad.mit.edu	37	chr6	30043491	30043491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcccgcattaacttttgCcgctttccgcccctctcctg	6	18	1	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:30043491C>T	ENST00000244360.6	-	1	173	c.76G>A	c.(76-78)Gca>Aca	p.A26T	RNF39_ENST00000376751.3_Missense_Mutation_p.A26T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	26						cytoplasm	zinc ion binding										TTAACTTTTGCCGCTTTCCGC	0.602													False	0	False	6:30043491	0	T	30043491	C	T	30043491	3	4	17	1	0	0	0	0	1	0	0	0	13570	739	26	2	1202	2	RNF39	6	30043491	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	11871823	30043491	141071576	27	1295											
KHDRBS2	202559	broad.mit.edu	37	chr6	62887161	62887161	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgttgctgatgacatcaaGatacttcttttcttcgtctt	6	8	4	3			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr6:62887161G>A	ENST00000281156.4	-	2	426	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ATGACATCAAGATACTTCTTT	0.338													False	0	False	6:62887161	0	A	62887161	G	A	62887161	3	1	17	1	0	0	0	0	1	0	0	0	8197	942	33	2	933	2	KHDRBS2	6	62887161	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	32843670	62887161	108227906	28	1296											
CBX3	11335	broad.mit.edu	37	chr7	26246131	26246132	+	Splice_Site	INS	-	-	CTGACAA													agtggaagggatttacagagINStaagaaactttagtgcatct							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:26246131_26246132insCTGACAA	ENST00000337620.4	+	3	595		c.e3+1		CBX3_ENST00000396386.2_Splice_Site|CBX3_ENST00000409747.1_Splice_Site|CBX3_ENST00000497498.1_Splice_Site	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3						chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						GATTTACAGAGTAAGAAACTTT	0.386													False	0	False	7:26246131	0	CTGACAA	26246132	-	CTGACAA	26246131	8	5	17	1	0	1	1	0	0	0	1	0	2739	1043	36	0	174	0	CBX3	7	26246131	Splice_Site	INS	-	TCGA-2L-AAQI-01A-12D-A397-08		26246131	132892532	29	1297											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	17	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-2L-AAQI-01A-12D-A397-08	17907647	44153778	114984885	30	1298											
POM121L12	285877	broad.mit.edu	37	chr7	53103442	53103442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacccctgctgcaaggcccCgacgccctggcggctcccat	11	19	0	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:53103442C>T	ENST00000408890.4	+	1	94	c.78C>T	c.(76-78)ccC>ccT	p.P26P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	26										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCAAGGCCCCGACGCCCTGG	0.706													False	0	True	7:53103442	0	T	53103442	C	T	53103442	2	4	17	1	0	0	0	0	0	0	0	1	12310	639	23	1		1	POM121L12	7	53103442	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	8949664	53103442	106035221	31	1299											
MOSPD3	64598	broad.mit.edu	37	chr7	100212491	100212491	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagtcttgtttctcagaCccccgccagcaactggccac	9	15	2	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:100212491C>T	ENST00000393950.2	+	4	795	c.513C>T	c.(511-513)caC>caT	p.H171H	MOSPD3_ENST00000424091.2_Splice_Site_p.H161H|MOSPD3_ENST00000223054.4_Splice_Site_p.H171H|MOSPD3_ENST00000379527.2_Splice_Site_p.H171H	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	171						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTTTCTCAGACCCCCGCCAGC	0.577													False	0	True	7:100212491	0	T	100212491	C	T	100212491	5	4	17	1	0	0	0	0	0	0	1	0	9784	521	18	2	527	2	MOSPD3	7	100212491	Splice_Site	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	47109049	100212491	58926172	32	1300											
SLC13A1	6561	broad.mit.edu	37	chr7	122821122	122821122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtgagccaaaatgtggCgaccacaaagagtgtgtagg	13	7	1	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:122821122C>T	ENST00000194130.2	-	2	172	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	SLC13A1_ENST00000539873.1_5'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	45						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAAAATGTGGCGACCACAAAG	0.428													False	0	False	7:122821122	0	T	122821122	C	T	122821122	3	4	17	1	0	0	0	0	1	0	0	0	14472	768	27	1	1710	1	SLC13A1	7	122821122	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	22608631	122821122	36317541	33	1301											
DGKI	9162	broad.mit.edu	37	chr7	137148251	137148251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactgtagcacgcgggagtGgctgagatctttcagatctg	13	8	3	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr7:137148251G>A	ENST00000424189.2	-	28	3011	c.2782C>T	c.(2782-2784)Cac>Tac	p.H928Y	DGKI_ENST00000446122.1_Missense_Mutation_p.H897Y|DGKI_ENST00000288490.5_Missense_Mutation_p.H915Y|DGKI_ENST00000453654.2_Intron			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	915					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACGCGGGAGTGGCTGAGATCT	0.537													False	0	False	7:137148251	0	A	137148251	G	A	137148251	3	1	17	1	0	0	0	0	1	0	0	0	4501	1348	47	2	482	2	DGKI	7	137148251	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	14327129	137148251	21990412	34	1302											
RP1L1	94137	broad.mit.edu	37	chr8	10470671	10470671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcctcattcatgcggaCcttcttcttcatgtcatcgc	7	15	6	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:10470671C>T	ENST00000382483.3	-	4	1160	c.937G>A	c.(937-939)Gtc>Atc	p.V313I		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	313					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCATGCGGACCTTCTTCTTC	0.657													False	0	True	8:10470671	0	T	10470671	C	T	10470671	3	4	17	1	0	0	0	0	1	0	0	0	13612	507	18	2	6269	2	RP1L1	8	10470671	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		10470671	135893351	35	1303											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19316053	19316053	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcactttcatgatggggccGaatggtcgaaataagatgag	12	6	2	3	rs142456632	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:19316053G>A	ENST00000454498.2	-	5	1748	c.735C>T	c.(733-735)ttC>ttT	p.F245F	CSGALNACT1_ENST00000311540.4_Silent_p.F245F|CSGALNACT1_ENST00000522854.1_Silent_p.F245F|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000544602.1_Silent_p.F245F|CSGALNACT1_ENST00000332246.6_Silent_p.F245F	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	245					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TGATGGGGCCGAATGGTCGAA	0.458													False	0	False	8:19316053	0	A	19316053	G	A	19316053	2	1	17	1	0	0	0	0	0	0	0	1	3963	1049	37	1		1	CSGALNACT1	8	19316053	Silent	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	8845382	19316053	127047969	36	1304											
PABPC1	26986	broad.mit.edu	37	chr8	101719034	101719035	+	Splice_Site	INS	-	-	AACACACTGTGTTGACATGACTTGTGGAACCTG													gtctgtgttgatgtgttagcINStaaaaaataagaacattttg							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:101719034_101719035insAACACACTGTGTTGACATGACTTGTGGAACCTG	ENST00000318607.5	-	11	2576		c.e11-1		PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000522387.1_Splice_Site	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GATGTGTTAGCTAAAAAATAAG	0.426													False	0	True	8:101719034	0	AACACACTGTGTTGACATGACTTGTGGAACCTG	101719035	-	AACACACTGTGTTGACATGACTTGTGGAACCTG	101719034	8	5	17	1	0	1	1	0	0	0	1	0	11431	811	28	0	479	0	PABPC1	8	101719034	Splice_Site	INS	-	TCGA-2L-AAQI-01A-12D-A397-08	82402981	101719034	44644988	37	1305											
COL22A1	169044	broad.mit.edu	37	chr8	139890170	139890170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtgggctgccgccgcggCgtccagcaccaggtcctggc	17	16	0	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:139890170C>T	ENST00000303045.6	-	3	927	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	COL22A1_ENST00000435777.1_Missense_Mutation_p.A161T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	161	Poly-Ala.|VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCGCCGCGGCGTCCAGCACC	0.716										HNSCC(7;0.00092)			False	0	False	8:139890170	0	T	139890170	C	T	139890170	3	4	17	1	0	0	0	0	1	0	0	0	3704	768	27	1	4651	1	COL22A1	8	139890170	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	38171136	139890170	6473852	38	1306											
OPLAH	26873	broad.mit.edu	37	chr8	145109606	145109606	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccctcggctggccacataGaacacaggccgcgtctgacc	11	16	1	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr8:145109606G>A	ENST00000426825.1	-	19	2625	c.2544C>T	c.(2542-2544)ttC>ttT	p.F848F	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	848							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TGGCCACATAGAACACAGGCC	0.667													False	0	False	8:145109606	0	A	145109606	G	A	145109606	2	1	17	1	0	0	0	0	0	0	0	1	10944	933	33	2		2	OPLAH	8	145109606	Silent	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	5219436	145109606	1254416	39	1307											
OR1L4	254973	broad.mit.edu	37	chr9	125486817	125486817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactttttctgtgacacccaGcctgtgctaaagctctcctg	7	14	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:125486817G>T	ENST00000259466.1	+	1	549	c.549G>T	c.(547-549)caG>caT	p.Q183H		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GTGACACCCAGCCTGTGCTAA	0.512													False	0	False	9:125486817	0	T	125486817	G	T	125486817	3	4	17	1	0	0	0	0	1	0	0	0	11033	962	34	3	551	3	OR1L4	9	125486817	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08		125486817	15726614	40	1308											
SLC34A3	142680	broad.mit.edu	37	chr9	140130438	140130438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttcttcaacctggccgGcatcctgctgtggtacctgg	10	14	3	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr9:140130438G>A	ENST00000538474.1	+	13	1594	c.1370G>A	c.(1369-1371)gGc>gAc	p.G457D	SLC34A3_ENST00000361134.2_Missense_Mutation_p.G457D	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	457					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AACCTGGCCGGCATCCTGCTG	0.711											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:140130438	0	A	140130438	G	A	140130438	3	1	17	1	0	0	0	0	1	0	0	0	14649	1203	42	2	1416	2	SLC34A3	9	140130438	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	14643621	140130438	1082993	41	1309											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105363099	105363099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctctgcatatggccGgaagccctcattctcataga	10	12	3	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr10:105363099G>A	ENST00000369774.4	-	15	2152	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R493W|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R598W|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R461W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	626					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCATATGGCCGGAAGCCCTCA	0.622													False	0	False	10:105363099	0	A	105363099	G	A	105363099	3	1	17	1	0	0	0	0	1	0	0	0	14337	1115	39	1	1529	1	SH3PXD2A	10	105363099	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08		105363099	30171648	42	1310											
CNGA4	1262	broad.mit.edu	37	chr11	6261751	6261751	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgccgccagccagggaagaaGagtacctcttcatggtgggc	14	12	2	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:6261751G>A	ENST00000379936.2	+	4	842	c.727G>A	c.(727-729)Gag>Aag	p.E243K	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	243					response to stimulus|sensory perception of smell		cAMP binding	p.E243K(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGGAAGAAGAGTACCTCTT	0.552													False	0	False	11:6261751	0	A	6261751	G	A	6261751	3	1	17	1	0	0	0	0	1	0	0	0	3622	943	33	2	741	2	CNGA4	11	6261751	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08		6261751	128744765	43	1311											
OR8H2	390151	broad.mit.edu	37	chr11	55873025	55873025	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagcagattgcatttctaCgactcaaacgtaattcatca	6	9	4	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:55873025C>T	ENST00000313503.1	+	1	507	c.507C>T	c.(505-507)taC>taT	p.Y169Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	169			Y -> C (in dbSNP:rs2449148).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGCATTTCTACGACTCAAACG	0.423										HNSCC(53;0.14)			False	0	False	11:55873025	0	T	55873025	C	T	55873025	2	4	17	1	0	0	0	0	0	0	0	1	11306	547	19	1		1	OR8H2	11	55873025	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	49611274	55873025	79133491	44	1312											
MRPL16	54948	broad.mit.edu	37	chr11	59573897	59573897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgggctcagtactttccGtatgcccagcatgttggcag	11	10	1	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:59573897G>A	ENST00000300151.4	-	4	892	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	227							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						AGTACTTTCCGTATGCCCAGC	0.468													False	0	False	11:59573897	0	A	59573897	G	A	59573897	3	1	17	1	0	0	0	0	1	0	0	0	9848	1144	40	1	80	1	MRPL16	11	59573897	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	3700872	59573897	75432619	45	1313											
DIXDC1	85458	broad.mit.edu	37	chr11	111853203	111853203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaaagaaaatgatatcaGgactacaggtagctctctcc	8	9	2	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:111853203G>A	ENST00000440460.2	+	8	1204	c.907G>A	c.(907-909)Gga>Aga	p.G303R	DIXDC1_ENST00000315253.5_Missense_Mutation_p.G92R|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	304					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AATGATATCAGGACTACAGGT	0.368													False	0	False	11:111853203	0	A	111853203	G	A	111853203	3	1	17	1	0	0	0	0	1	0	0	0	4571	991	35	2	962	2	DIXDC1	11	111853203	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	52279306	111853203	23153313	46	1314											
C11orf63	79864	broad.mit.edu	37	chr11	122817261	122817261	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcttctccagattcatggCtcacccagataatggagcag	10	11	3	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr11:122817261C>A	ENST00000227349.2	+	6	1987	c.1690C>A	c.(1690-1692)Ctc>Atc	p.L564I	C11orf63_ENST00000531316.1_Missense_Mutation_p.L564I	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	564										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGATTCATGGCTCACCCAGAT	0.458													False	0	False	11:122817261	0	A	122817261	C	A	122817261	3	1	17	1	0	0	0	0	1	0	0	0	1662	797	28	3	1772	3	C11orf63	11	122817261	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	10964058	122817261	12189255	47	1315											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	17	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		25398284	108453611	48	1316											
CNTN1	1272	broad.mit.edu	37	chr12	41323657	41323657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttatcacaatggataaaCggcgatttgtgtctcagaca	8	7	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:41323657C>T	ENST00000551295.2	+	7	673	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	CNTN1_ENST00000547849.1_Missense_Mutation_p.R186W|CNTN1_ENST00000347616.1_Missense_Mutation_p.R186W|CNTN1_ENST00000360099.3_Missense_Mutation_p.R186W|CNTN1_ENST00000348761.2_Missense_Mutation_p.R175W|CNTN1_ENST00000547702.1_Missense_Mutation_p.R186W	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	186	Ig-like C2-type 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AATGGATAAACGGCGATTTGT	0.378													False	0	True	12:41323657	0	T	41323657	C	T	41323657	3	4	17	1	0	0	0	0	1	0	0	0	3663	527	19	1	578	1	CNTN1	12	41323657	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	15925373	41323657	92528238	49	1317											
KRT6B	3854	broad.mit.edu	37	chr12	52845384	52845384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctcacgctcctcggccCgcacccgctggatggcgggg	14	17	2	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:52845384C>T	ENST00000252252.3	-	1	526	c.479G>A	c.(478-480)cGg>cAg	p.R160Q		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	160	Head.			VR -> IG (in Ref. 2; AAA59466).	ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTCCTCGGCCCGCACCCGCTG	0.597													False	0	True	12:52845384	0	T	52845384	C	T	52845384	3	4	17	1	0	0	0	0	1	0	0	0	8531	652	23	1	1251	1	KRT6B	12	52845384	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	11521727	52845384	81006511	50	1318											
NCOR2	9612	broad.mit.edu	37	chr12	124816902	124816902	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cggttgtgggtgttcagcttCttgttgatctcttgcttctt	11	8	4	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:124816902C>A	ENST00000356219.3	-	44	7043	c.6888G>T	c.(6886-6888)aaG>aaT	p.K2296N	NCOR2_ENST00000397355.1_Missense_Mutation_p.K2280N|NCOR2_ENST00000429285.2_Missense_Mutation_p.K2279N|NCOR2_ENST00000404621.1_Missense_Mutation_p.K2279N|NCOR2_ENST00000405201.1_Missense_Mutation_p.K2289N|NCOR2_ENST00000404121.2_Missense_Mutation_p.K1850N	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2300					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGTTCAGCTTCTTGTTGATCT	0.607											OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:124816902	0	A	124816902	C	A	124816902	3	1	17	1	0	0	0	0	1	0	0	0	10304	912	32	3	697	3	NCOR2	12	124816902	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	71971518	124816902	9034993	51	1319											
GPR133	283383	broad.mit.edu	37	chr12	131569149	131569149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaaacctcacctactccGtctgccgctgcactcacctc	7	18	3	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr12:131569149G>A	ENST00000261654.5	+	15	2171	c.1612G>A	c.(1612-1614)Gtc>Atc	p.V538I	GPR133_ENST00000376682.4_Missense_Mutation_p.V224I|GPR133_ENST00000543617.1_Missense_Mutation_p.V57I|GPR133_ENST00000535015.1_Missense_Mutation_p.V570I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	538	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CACCTACTCCGTCTGCCGCTG	0.622													False	0	False	12:131569149	0	A	131569149	G	A	131569149	3	1	17	1	0	0	0	0	1	0	0	0	6689	1145	40	1	1670	1	GPR133	12	131569149	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	6752247	131569149	2282746	52	1320											
SLITRK5	26050	broad.mit.edu	37	chr13	88329453	88329453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcgctgagaccgacatgCgctccattaagtcggagctg	11	11	0	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr13:88329453C>T	ENST00000325089.6	+	2	2029	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	604	LRRCT 2.					integral to membrane		p.R604C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACCGACATGCGCTCCATTAA	0.567													False	0	False	13:88329453	0	T	88329453	C	T	88329453	3	4	17	1	0	0	0	0	1	0	0	0	14826	768	27	1	1812	1	SLITRK5	13	88329453	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		88329453	26840425	53	1321											
DLK1	8788	broad.mit.edu	37	chr14	101200618	101200618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcacccccaacccatgCgagaacgacggcgtctgcac	10	17	1	1	rs143814604	byFrequency	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr14:101200618C>T	ENST00000341267.4	+	5	779	c.537C>T	c.(535-537)tgC>tgT	p.C179C	DLK1_ENST00000331224.6_Silent_p.C179C	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	179	EGF-like 5.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCAACCCATGCGAGAACGACG	0.657													False	0	False	14:101200618	0	T	101200618	C	T	101200618	2	4	17	1	0	0	0	0	0	0	0	1	4594	776	27	1		1	DLK1	14	101200618	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		101200618	6148922	54	1322											
NAGPA	51172	broad.mit.edu	37	chr16	5077996	5077996	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcactctccgtgcacagtcCgtgctggctgcagttagagg	12	13	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:5077996C>A	ENST00000312251.3	-	6	1130	c.1111G>T	c.(1111-1113)Gga>Tga	p.G371*	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Nonsense_Mutation_p.G371*	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	371	EGF-like.				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GTGCACAGTCCGTGCTGGCTG	0.687													False	0	False	16:5077996	0	A	5077996	C	A	5077996	4	1	17	1	0	0	0	0	0	1	0	0	10211	661	23	3	456	3	NAGPA	16	5077996	Nonsense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		5077996	85276757	55	1323											
TMEM186	25880	broad.mit.edu	37	chr16	8890319	8890319	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgtttggtagtttctccttCgagatgggtgaactgctgcc	13	9	1	2	rs149142450		TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr16:8890319C>T	ENST00000333050.6	-	2	165	c.132G>A	c.(130-132)tcG>tcA	p.S44S	PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	44						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GTTTCTCCTTCGAGATGGGTG	0.532													False	0	False	16:8890319	0	T	8890319	C	T	8890319	2	4	17	1	0	0	0	0	0	0	0	1	16190	871	31	1		1	TMEM186	16	8890319	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	3812323	8890319	81464434	56	1324											
TP53	7157	broad.mit.edu	37	chr17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggagattctcttcctctgtgCgccggtctctcccaggacag	11	14	3	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:7577090C>G	ENST00000420246.2	-	8	980	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000269305.4_Missense_Mutation_p.R283P|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCTCTGTGCGCCGGTCTCT	0.562		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)			False	0	False	17:7577090	0	G	7577090	C	G	7577090	3	3	17	1	0	0	0	0	1	0	0	0	16464	768	27	5	438	5	TP53	17	7577090	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		7577090	73618120	57	1325											
TEX2	55852	broad.mit.edu	37	chr17	62290359	62290359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcactaaggcagacaAagaacatttctccagaacta	6	10	2	3			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:62290359A>C	ENST00000258991.3	-	2	1303	c.1219T>G	c.(1219-1221)Ttg>Gtg	p.L407V	TEX2_ENST00000584379.1_Missense_Mutation_p.L407V|TEX2_ENST00000583097.1_Missense_Mutation_p.L407V			Q8IWB9	TEX2_HUMAN	testis expressed 2	407					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AAGGCAGACAAAGAACATTTC	0.448													False	0	True	17:62290359	0	C	62290359	A	C	62290359	3	2	17	1	0	0	0	0	1	0	0	0	15863	11	1	4	2229	4	TEX2	17	62290359	Missense_Mutation	SNP	A	TCGA-2L-AAQI-01A-12D-A397-08	54713269	62290359	18904851	58	1326											
LGALS3BP	3959	broad.mit.edu	37	chr17	76968673	76968673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctgggggaggaggatgGcaaagaggcttgcgcagtag	20	6	0	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr17:76968673G>A	ENST00000262776.3	-	6	1051	c.743C>T	c.(742-744)gCc>gTc	p.A248V	LGALS3BP_ENST00000591778.1_Missense_Mutation_p.P164S	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	248					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GAGGAGGATGGCAAAGAGGCT	0.617													False	0	False	17:76968673	0	A	76968673	G	A	76968673	3	1	17	1	0	0	0	0	1	0	0	0	8795	1203	42	2	1018	2	LGALS3BP	17	76968673	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	14678314	76968673	4226537	59	1327											
RFX2	5990	broad.mit.edu	37	chr19	6013025	6013025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgcatgggctgctgccGcatggccatgtactgcgtgt	15	11	0	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:6013025G>A	ENST00000303657.5	-	8	1020	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.R291W|RFX2_ENST00000592546.1_Missense_Mutation_p.R266W	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGCTGCTGCCGCATGGCCATG	0.622													False	0	False	19:6013025	0	A	6013025	G	A	6013025	3	1	17	1	0	0	0	0	1	0	0	0	13342	1086	38	1	1344	1	RFX2	19	6013025	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08		6013025	53115958	60	1328											
MAST1	22983	broad.mit.edu	37	chr19	12969441	12969441	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcaaccagatccagcaGgcctttgtggagcgcgatat	11	13	0	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:12969441G>C	ENST00000251472.4	+	12	1293	c.1254G>C	c.(1252-1254)caG>caC	p.Q418H	MAST1_ENST00000591495.1_Missense_Mutation_p.Q414H	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	418	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGATCCAGCAGGCCTTTGTGG	0.587													False	0	False	19:12969441	0	C	12969441	G	C	12969441	3	2	17	1	0	0	0	0	1	0	0	0	9391	991	35	5	1300	5	MAST1	19	12969441	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	6956416	12969441	46159542	61	1329											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	17	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-2L-AAQI-01A-12D-A397-08	1114226	14083667	45045316	62	1330											
ATP4A	495	broad.mit.edu	37	chr19	36044045	36044045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccctcctgggccattgccGtgaagtagtcagtgaagcca	12	12	1	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:36044045G>A	ENST00000262623.3	-	18	2673	c.2645C>T	c.(2644-2646)aCg>aTg	p.T882M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	882					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCCATTGCCGTGAAGTAGTC	0.602													False	0	False	19:36044045	0	A	36044045	G	A	36044045	3	1	17	1	0	0	0	0	1	0	0	0	1149	1145	40	1	482	1	ATP4A	19	36044045	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	21960378	36044045	23084938	63	1331											
ATP4A	495	broad.mit.edu	37	chr19	36051809	36051809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccggtgacgacaaccacaGcaatgagagcgattgccagg	13	11	0	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:36051809G>A	ENST00000262623.3	-	5	474	c.446C>T	c.(445-447)gCt>gTt	p.A149V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	149					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GACAACCACAGCAATGAGAGC	0.587													False	0	False	19:36051809	0	A	36051809	G	A	36051809	3	1	17	1	0	0	0	0	1	0	0	0	1149	971	34	2	2733	2	ATP4A	19	36051809	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	7764	36051809	23077174	64	1332											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	12	14	1	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627													False	0	False	19:40395919	0	A	40395919	G	A	40395919	3	1	17	1	0	0	0	0	1	0	0	0	5818	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	4344110	40395919	18733064	65	1333											
ZNF226	7769	broad.mit.edu	37	chr19	44679811	44679812	+	Frame_Shift_Ins	INS	-	-	TTTGATTTTT													aacaaggtgatttcccttacINScaggtagggacagaactgtc							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:44679811_44679812insTTTGATTTTT	ENST00000590089.1	+	7	763_764	c.396_397insTTTGATTTTT	c.(397-399)cagfs	p.Q133fs	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Frame_Shift_Ins_p.Q133fs|ZNF226_ENST00000454662.2_Frame_Shift_Ins_p.Q133fs			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				ATTTCCCTTACCAGGTAGGGAC	0.381													False	0	False	19:44679811	0	TTTGATTTTT	44679812	-	TTTGATTTTT	44679811	7	5	17	1	0	1	1	0	0	0	0	0	17863	518	18	0	464	0	ZNF226	19	44679811	Frame_Shift_Ins	INS	-	TCGA-2L-AAQI-01A-12D-A397-08	4283892	44679811	14449172	66	1334											
CCDC8	83987	broad.mit.edu	37	chr19	46914987	46914987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgattatctgcagcctcttCcctctggttatctgcagcct	7	14	4	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:46914987C>T	ENST00000307522.3	-	1	1854	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	361						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCAGCCTCTTCCCTCTGGTTA	0.597													False	0	True	19:46914987	0	T	46914987	C	T	46914987	3	4	17	1	0	0	0	0	1	0	0	0	2874	864	30	2	539	2	CCDC8	19	46914987	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	2235176	46914987	12213996	67	1335											
PLEKHA4	0	broad.mit.edu	37	chr19	49340735	49340735	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggagatctggggggaggggtCtcctggcgcgtggggtccga	22	8	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:49340735C>G	ENST00000263265.6	-	20	2706	c.2151G>C	c.(2149-2151)gaG>gaC	p.E717D	PLEKHA4_ENST00000355496.5_3'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	717						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGGAGGGGTCTCCTGGCGCG	0.672													False	0	False	19:49340735	0	G	49340735	C	G	49340735	3	3	17	1	0	0	0	0	1	0	0	0	12127	912	32	5	192	5	PLEKHA4	19	49340735	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	2425748	49340735	9788248	68	1336											
RRAS	6237	broad.mit.edu	37	chr19	50139001	50139001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggctcaccggacagcccGcaccagctgctcaaaagcct	9	17	2	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:50139001G>A	ENST00000246792.3	-	5	664	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	188					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		CGGACAGCCCGCACCAGCTGC	0.597													False	0	True	19:50139001	0	A	50139001	G	A	50139001	3	1	17	1	0	0	0	0	1	0	0	0	13755	1086	38	1	102	1	RRAS	19	50139001	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	798266	50139001	8989982	69	1337											
ZNF880	400713	broad.mit.edu	37	chr19	52888074	52888075	+	Frame_Shift_Ins	INS	-	-	AT													tacaaatgtaatgaatgtggINScaaagcatttagagactgtt							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:52888074_52888075insAT	ENST00000422689.2	+	4	1256_1257	c.1241_1242insAT	c.(1240-1245)ggcaaafs	p.K415fs		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	415					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AATGAATGTGGCAAAGCATTTA	0.411													False	0	True	19:52888074	0	AT	52888075	-	AT	52888074	7	5	17	1	0	1	1	0	0	0	0	0	18279	1203	42	0	1255	0	ZNF880	19	52888074	Frame_Shift_Ins	INS	-	TCGA-2L-AAQI-01A-12D-A397-08	2749073	52888074	6240909	70	1338	12	2									
ZNF880	400713	broad.mit.edu	37	chr19	52888076	52888077	+	In_Frame_Ins	INS	-	-	TGAGGTCAGGAGATCGAGACCATCCTGGCT													caaatgtaatgaatgtggcaINSaagcatttagagactgttca							TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:52888076_52888077insTGAGGTCAGGAGATCGAGACCATCCTGGCT	ENST00000422689.2	+	4	1258_1259	c.1243_1244insTGAGGTCAGGAGATCGAGACCATCCTGGCT	c.(1243-1245)aaa>aTGAGGTCAGGAGATCGAGACCATCCTGGCTaa	p.415_415K>MRSGDRDHPG*		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	415					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGAATGTGGCAAAGCATTTAGA	0.411													False	0	True	19:52888076	0	TGAGGTCAGGAGATCGAGACCATCCTGGCT	52888077	-	TGAGGTCAGGAGATCGAGACCATCCTGGCT	52888076	7	5	17	1	0	1	1	0	0	0	0	0	18279	131	5	0	1257	0	ZNF880	19	52888076	In_Frame_Ins	INS	-	TCGA-2L-AAQI-01A-12D-A397-08	2	52888076	6240907	71	1339	12	2									
LILRB1	0	broad.mit.edu	37	chr19	55144109	55144109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccaacttcaccctgggcCctgtgagccgctcctacggg	12	16	1	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr19:55144109C>A	ENST00000396331.1	+	7	1213	c.856C>A	c.(856-858)Cct>Act	p.P286T	LILRB1_ENST00000427581.2_Missense_Mutation_p.P322T|LILRB1_ENST00000396332.4_Missense_Mutation_p.P286T|LILRB1_ENST00000434867.2_Missense_Mutation_p.P286T|LILRB1_ENST00000396321.2_Missense_Mutation_p.P286T|LILRB1_ENST00000418536.2_Missense_Mutation_p.P286T|LILRB1_ENST00000324602.7_Missense_Mutation_p.P286T|LILRB1_ENST00000396315.1_Missense_Mutation_p.P286T|LILRB1_ENST00000448689.1_Missense_Mutation_p.P286T|LILRB1_ENST00000396327.3_Missense_Mutation_p.P286T|LILRB1_ENST00000396317.1_Missense_Mutation_p.P286T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	286	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CACCCTGGGCCCTGTGAGCCG	0.632										HNSCC(37;0.09)			False	0	True	19:55144109	0	A	55144109	C	A	55144109	3	1	17	1	0	0	0	0	1	0	0	0	8842	623	22	3	874	3	LILRB1	19	55144109	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	2256033	55144109	3984874	72	1340											
SIRPB1	10326	broad.mit.edu	37	chr20	1551562	1551562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgacaggtgagcaccacatCgtccctgtgggcacaggtgt	13	12	0	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:1551562C>A	ENST00000381605.4	-	4	1037	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	325	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGCACCACATCGTCCCTGTGG	0.567													False	0	False	20:1551562	0	A	1551562	C	A	1551562	3	1	17	1	0	0	0	0	1	0	0	0	14414	884	31	3	231	3	SIRPB1	20	1551562	Missense_Mutation	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08		1551562	61473958	73	1341											
DNMT3B	1789	broad.mit.edu	37	chr20	31388072	31388072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaggggaatatcaaatacGtgaacgacgtgaggaacatc	12	7	1	2	rs77767360	by1000genomes	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:31388072G>A	ENST00000328111.2	+	17	2194	c.1873G>A	c.(1873-1875)Gtg>Atg	p.V625M	DNMT3B_ENST00000443239.3_Missense_Mutation_p.V563M|DNMT3B_ENST00000344505.4_Missense_Mutation_p.V605M|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V617M|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V605M|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V605M|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V529M	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	625					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TATCAAATACGTGAACGACGT	0.493													False	0	False	20:31388072	0	A	31388072	G	A	31388072	3	1	17	1	0	0	0	0	1	0	0	0	4707	1145	40	1	1975	1	DNMT3B	20	31388072	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	29836510	31388072	31637448	74	1342											
DNMT3B	1789	broad.mit.edu	37	chr20	31388677	31388677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgacttggtgattggcGgaagcccatgcaacgatctc	11	10	1	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:31388677G>A	ENST00000328111.2	+	18	2263	c.1942G>A	c.(1942-1944)Gga>Aga	p.G648R	DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	648					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGATTGGCGGAAGCCCATG	0.522													False	0	False	20:31388677	0	A	31388677	G	A	31388677	3	1	17	1	0	0	0	0	1	0	0	0	4707	1117	39	1	2048	1	DNMT3B	20	31388677	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08	605	31388677	31636843	75	1343											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31984682	31984682	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttaaaaaatgttgaaaagtCggtccagcagccagcctgga	10	8	0	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:31984682C>T	ENST00000357886.4	-	2	342	c.189G>A	c.(187-189)ccG>ccA	p.P63P	CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Silent_p.P63P|CDK5RAP1_ENST00000544843.1_Silent_p.P63P|CDK5RAP1_ENST00000477105.1_Intron|CDK5RAP1_ENST00000346416.2_Silent_p.P63P			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	63	CDK5 activation inhibition.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GTTGAAAAGTCGGTCCAGCAG	0.517													False	0	False	20:31984682	0	T	31984682	C	T	31984682	2	4	17	1	0	0	0	0	0	0	0	1	3168	871	31	1		1	CDK5RAP1	20	31984682	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	596005	31984682	31040838	76	1344											
CDH4	1002	broad.mit.edu	37	chr20	60503309	60503309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgacatcaacgacaaCgcccctgagctgctgcccaa	7	16	2	2			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr20:60503309C>T	ENST00000360469.5	+	12	1921	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	CDH4_ENST00000543233.1_Silent_p.N537N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	611	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCAACGACAACGCCCCTGAGC	0.627													False	0	False	20:60503309	0	T	60503309	C	T	60503309	2	4	17	1	0	0	0	0	0	0	0	1	3135	535	19	1		1	CDH4	20	60503309	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	28518627	60503309	2522211	77	1345											
PRODH	5625	broad.mit.edu	37	chr22	18910340	18910340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccccacctgcagcaccGccacctccagcttggtgtcc	9	20	0	0			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr22:18910340G>A	ENST00000357068.6	-	6	1104	c.839C>T	c.(838-840)gCg>gTg	p.A280V	PRODH_ENST00000334029.2_Missense_Mutation_p.A172V|PRODH_ENST00000420436.1_Missense_Mutation_p.A172V	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	280					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CTGCAGCACCGCCACCTCCAG	0.657													False	0	False	22:18910340	0	A	18910340	G	A	18910340	3	1	17	1	0	0	0	0	1	0	0	0	12624	1087	38	1	999	1	PRODH	22	18910340	Missense_Mutation	SNP	G	TCGA-2L-AAQI-01A-12D-A397-08		18910340	32394226	78	1346											
MPPED1	758	broad.mit.edu	37	chr22	43870629	43870629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggcagcctgccctaCgagtacaagatcgtgatcgc	11	14	0	2	rs139800936	by1000genomes	TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chr22:43870629C>T	ENST00000417669.2	+	4	864	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MPPED1_ENST00000414469.2_Silent_p.Y34Y|MPPED1_ENST00000443721.1_Silent_p.Y140Y|MPPED1_ENST00000538182.1_Silent_p.Y173Y|MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000542779.1_Silent_p.Y140Y			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity	p.Y140*(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCTGCCCTACGAGTACAAGA	0.582													False	0	False	22:43870629	0	T	43870629	C	T	43870629	2	4	17	1	0	0	0	0	0	0	0	1	9808	547	19	1		1	MPPED1	22	43870629	Silent	SNP	C	TCGA-2L-AAQI-01A-12D-A397-08	24960289	43870629	7433937	79	1347											
KDM6A	7403	broad.mit.edu	37	chrX	44879977	44879977	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctatgagtctagtttaaaggTaggttgttgggttttttcaa	11	3	2	1			TCGA-2L-AAQI-01A-12D-A397-08	TCGA-2L-AAQI-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bc207a75-c45b-4259-9ab1-568b3669cba7	37e90c67-83cb-401d-aca4-4500866ffa52	g.chrX:44879977T>A	ENST00000377967.4	+	6	605		c.e6+2		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(12)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGTTTAAAGGTAGGTTGTTGG	0.318			"D, N, F, S"		"renal, oesophageal SCC, MM"								False	0	True	X:44879977	0	A	44879977	T	A	44879977	5	1	17	1	0	0	0	0	0	0	1	0	8187	1652	57	5	588	5	KDM6A	23	44879977	Splice_Site	SNP	T	TCGA-2L-AAQI-01A-12D-A397-08		44879977	110390583	80	1348											
ENO1	2023	broad.mit.edu	37	chr1	8926458	8926458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaacctctgctccaatgcGcatggcttccctgaagtttg	9	12	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:8926458G>A	ENST00000234590.4	-	7	666	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	183	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCCAATGCGCATGGCTTCC	0.512													False	0	False	1:8926458	0	A	8926458	G	A	8926458	3	1	18	1	0	0	0	0	1	0	0	0	5153	1087	38	1	781	1	ENO1	1	8926458	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		8926458	240324163	1	1349											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854342	12854342	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagtaagctggtcaattatcTaacgccgattaaatatctca	6	8	3	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:12854342T>A	ENST00000332296.7	+	3	669	c.566T>A	c.(565-567)cTa>cAa	p.L189Q		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	189										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAATTATCTAACGCCGATT	0.408													False	0	False	1:12854342	0	A	12854342	T	A	12854342	3	1	18	1	0	0	0	0	1	0	0	0	12499	1522	53	5	572	5	PRAMEF1	1	12854342	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	3927884	12854342	236396279	2	1350											
IGSF21	84966	broad.mit.edu	37	chr1	18692048	18692048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttcctgcgccacagccGcaccccgagcagtgacggca	10	18	0	1	rs149943630		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:18692048G>A	ENST00000251296.1	+	6	1255	c.872G>A	c.(871-873)cGc>cAc	p.R291H		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	291						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGCCACAGCCGCACCCCGAGC	0.632													False	0	False	1:18692048	0	A	18692048	G	A	18692048	3	1	18	1	0	0	0	0	1	0	0	0	7649	1087	38	1	894	1	IGSF21	1	18692048	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	5837706	18692048	230558573	3	1351											
KIAA1522	57648	broad.mit.edu	37	chr1	33237860	33237860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcccccacctgtggcccGcaagccgtctgtgggagtcc	13	17	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:33237860G>A	ENST00000401073.2	+	6	3150	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	KIAA1522_ENST00000373481.3_Missense_Mutation_p.R979H|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R968H	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	968										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTGTGGCCCGCAAGCCGTCT	0.662													False	0	True	1:33237860	0	A	33237860	G	A	33237860	3	1	18	1	0	0	0	0	1	0	0	0	8288	1087	38	1	3102	1	KIAA1522	1	33237860	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	14545812	33237860	216012761	4	1352											
ATP5F1	515	broad.mit.edu	37	chr1	111992194	111992194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggtactttccgccgccGccacagcgggtaaggggtat	16	11	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:111992194G>A	ENST00000369722.3	+	1	637	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	ATP5F1_ENST00000483994.1_Missense_Mutation_p.A11T|ATP5F1_ENST00000369721.4_3'UTR	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	11					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTCCGCCGCCGCCACAGCGGG	0.577													False	0	True	1:111992194	0	A	111992194	G	A	111992194	3	1	18	1	0	0	0	0	1	0	0	0	1156	1087	38	1	33	1	ATP5F1	1	111992194	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	78754334	111992194	137258427	5	1353											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	18	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-2L-AAQJ-01A-12D-A397-08	40679321	152671515	96579106	6	1354											
KPRP	448834	broad.mit.edu	37	chr1	152733552	152733552	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagggagacttggcgCagccccagcccatgctgggg	15	15	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:152733552C>A	ENST00000368773.1	+	2	1546	c.1488C>A	c.(1486-1488)cgC>cgA	p.R496R	KPRP_ENST00000606109.1_Silent_p.R496R	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	496	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTTGGCGCAGCCCCAGCC	0.647													False	0	False	1:152733552	0	A	152733552	C	A	152733552	2	1	18	1	0	0	0	0	0	0	0	1	8486	697	25	3		3	KPRP	1	152733552	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	62037	152733552	96517069	7	1355											
FDPS	2224	broad.mit.edu	37	chr1	155289625	155289625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggaccccagtgtgaccgGcaaaattggcactgacatcc	12	12	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:155289625G>A	ENST00000356657.6	+	10	1127	c.965G>A	c.(964-966)gGc>gAc	p.G322D	FDPS_ENST00000368356.4_Missense_Mutation_p.G322D|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.G256D	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	322					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGTGTGACCGGCAAAATTGGC	0.567													False	0	False	1:155289625	0	A	155289625	G	A	155289625	3	1	18	1	0	0	0	0	1	0	0	0	5843	1203	42	2	999	2	FDPS	1	155289625	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	2556073	155289625	93960996	8	1356											
BCAN	63827	broad.mit.edu	37	chr1	156621427	156621427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccatcatggaggacggaGgaggtggaagctccactcca	13	12	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:156621427G>A	ENST00000329117.5	+	7	1579	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	BCAN_ENST00000361588.5_Missense_Mutation_p.G415R|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican		Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGGACGGAGGAGGTGGAAG	0.557													False	0	False	1:156621427	0	A	156621427	G	A	156621427	3	1	18	1	0	0	0	0	1	0	0	0	1349	1001	35	2	1265	2	BCAN	1	156621427	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	1331802	156621427	92629194	9	1357											
TNN	63923	broad.mit.edu	37	chr1	175105027	175105027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggatttcttcaagcgatGgaggagctatgtggaaggct	15	6	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:175105027G>T	ENST00000239462.4	+	16	3490	c.3377G>T	c.(3376-3378)tGg>tTg	p.W1126L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1126	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.W1126*(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTCAAGCGATGGAGGAGCTAT	0.537													False	0	False	1:175105027	0	T	175105027	G	T	175105027	3	4	18	1	0	0	0	0	1	0	0	0	16405	1357	47	3	3435	3	TNN	1	175105027	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	18483600	175105027	74145594	10	1358											
TNR	7143	broad.mit.edu	37	chr1	175365862	175365862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaagagatcacatattccGtcactgccatcggcccgtcc	9	14	2	1	rs138654492		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:175365862G>A	ENST00000367674.2	-	5	1766	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	TNR_ENST00000263525.2_Missense_Mutation_p.T353M			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACATATTCCGTCACTGCCAT	0.617													False	0	False	1:175365862	0	A	175365862	G	A	175365862	3	1	18	1	0	0	0	0	1	0	0	0	16420	1145	40	1	3094	1	TNR	1	175365862	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	260835	175365862	73884759	11	1359											
PM20D1	148811	broad.mit.edu	37	chr1	205819140	205819140	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcgatctggagacggTagggaaaactaggagcagca	14	9	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:205819140T>G	ENST00000367136.4	-	1	105	c.61A>C	c.(61-63)Acc>Ccc	p.T21P	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	21						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CTGGAGACGGTAGGGAAAACT	0.602													False	0	False	1:205819140	0	G	205819140	T	G	205819140	3	3	18	1	0	0	0	0	1	0	0	0	12197	1638	57	4	1499	4	PM20D1	1	205819140	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	30453278	205819140	43431481	12	1360											
APOB	338	broad.mit.edu	37	chr2	21231133	21231133	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaatcactccattactAagctccagtgtatttttttc	4	10	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:21231133A>G	ENST00000233242.1	-	26	8734	c.8607T>C	c.(8605-8607)ctT>ctC	p.L2869L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2869					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCATTACTAAGCTCCAGTG	0.393													False	0	False	2:21231133	0	G	21231133	A	G	21231133	2	3	18	1	0	0	0	0	0	0	0	1	787	349	13	4		4	APOB	2	21231133	Silent	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08		21231133	221968240	13	1361											
ITSN2	50618	broad.mit.edu	37	chr2	24533237	24533237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcagactataagatgacCcatgaggcaatgctaaaaaa	7	8	2	4			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:24533237C>T	ENST00000355123.4	-	7	1012	c.569G>A	c.(568-570)gGg>gAg	p.G190E	ITSN2_ENST00000361999.3_Missense_Mutation_p.G190E|ITSN2_ENST00000406921.3_Missense_Mutation_p.G190E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	190					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAAGATGACCCATGAGGCAA	0.343													False	0	True	2:24533237	0	T	24533237	C	T	24533237	3	4	18	1	0	0	0	0	1	0	0	0	7977	623	22	2	4711	2	ITSN2	2	24533237	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	3302104	24533237	218666136	14	1362											
BCL11A	53335	broad.mit.edu	37	chr2	60688782	60688782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtgcgtcttcatgtggCgcttcagcttgctggcctgg	14	11	3	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:60688782C>T	ENST00000335712.6	-	4	1492	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H	BCL11A_ENST00000537768.1_Missense_Mutation_p.R91H|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.R422H|BCL11A_ENST00000538214.1_Missense_Mutation_p.R388H|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.R388H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	422					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTTCATGTGGCGCTTCAGCTT	0.647			T	IGH@	B-CLL								False	0	False	2:60688782	0	T	60688782	C	T	60688782	3	4	18	1	0	0	0	0	1	0	0	0	1367	768	27	1	1352	1	BCL11A	2	60688782	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	36155545	60688782	182510591	15	1363											
POTEE	445582	broad.mit.edu	37	chr2	131976091	131976091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgctacagggagagcgGcaagagcaacgtgggcactt	14	12	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:131976091G>A	ENST00000356920.5	+	1	210	c.116G>A	c.(115-117)gGc>gAc	p.G39D	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.G39D	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	39							ATP binding										AGGGAGAGCGGCAAGAGCAAC	0.582													False	0	False	2:131976091	0	A	131976091	G	A	131976091	3	1	18	1	0	0	0	0	1	0	0	0	12333	1203	42	2	118	2	POTEE	2	131976091	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	71287309	131976091	111223282	16	1364											
ABCA12	26154	broad.mit.edu	37	chr2	215865634	215865634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcttcttgtggtctgtgCggtcttgagactcatccgga	13	9	4	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:215865634C>T	ENST00000272895.7	-	22	3193	c.2974G>A	c.(2974-2976)Gca>Aca	p.A992T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A674T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	992					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTGGTCTGTGCGGTCTTGAGA	0.448													False	0	False	2:215865634	0	T	215865634	C	T	215865634	3	4	18	1	0	0	0	0	1	0	0	0	30	768	27	1	4941	1	ABCA12	2	215865634	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	83889543	215865634	27333739	17	1365											
GLB1L	79411	broad.mit.edu	37	chr2	220101856	220101856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagctgaaagggaattgaTatgtgtcctgtgcaaagtac	11	6	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:220101856T>C	ENST00000295759.7	-	17	2216	c.1903A>G	c.(1903-1905)Atc>Gtc	p.I635V	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Missense_Mutation_p.I635V|GLB1L_ENST00000356283.3_Missense_Mutation_p.I545V|GLB1L_ENST00000409640.1_Missense_Mutation_p.I545V			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	635					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGAATTGATATGTGTCCTG	0.468													False	0	False	2:220101856	0	C	220101856	T	C	220101856	3	2	18	1	0	0	0	0	1	0	0	0	6473	1406	49	4	65	4	GLB1L	2	220101856	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	4236222	220101856	23097517	18	1366											
OXTR	5021	broad.mit.edu	37	chr3	8794835	8794835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcgtggaagaggtggcccGtgaacagcatgtagatccag	15	8	0	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:8794835G>A	ENST00000316793.3	-	4	1622	c.998C>T	c.(997-999)aCg>aTg	p.T333M	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	333					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GAGGTGGCCCGTGAACAGCAT	0.617													False	0	True	3:8794835	0	A	8794835	G	A	8794835	3	1	18	1	0	0	0	0	1	0	0	0	11406	1145	40	1	175	1	OXTR	3	8794835	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		8794835	189227595	19	1367											
TGFBR2	7048	broad.mit.edu	37	chr3	30713171	30713171	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acttgttgctagtcatatttCaagtgacaggcatcagcctc	8	10	3	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:30713171C>T	ENST00000295754.5	+	4	878	c.496C>T	c.(496-498)Caa>Taa	p.Q166*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.Q191*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	166					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGTCATATTTCAAGTGACAGG	0.473													False	0	True	3:30713171	0	T	30713171	C	T	30713171	4	4	18	1	0	0	0	0	0	1	0	0	15904	827	29	2	589	2	TGFBR2	3	30713171	Nonsense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	21918336	30713171	167309259	20	1368											
LRRC2	79442	broad.mit.edu	37	chr3	46563080	46563080	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatgttggcgatcccgttcaCtttccattatttcattgcca	6	11	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:46563080C>G	ENST00000395905.3	-	8	1390	c.998G>C	c.(997-999)aGt>aCt	p.S333T	LRRC2_ENST00000296144.3_Missense_Mutation_p.S333T	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	333										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATCCCGTTCACTTTCCATTAT	0.328													False	0	True	3:46563080	0	G	46563080	C	G	46563080	3	3	18	1	0	0	0	0	1	0	0	0	9038	565	20	5	125	5	LRRC2	3	46563080	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	15849909	46563080	151459350	21	1369											
DOCK3	1795	broad.mit.edu	37	chr3	51378785	51378785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaaggagggactgtgccGgaagatcattcactacttca	13	9	3	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:51378785G>A	ENST00000266037.9	+	38	3907	c.3884G>A	c.(3883-3885)cGg>cAg	p.R1295Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1295	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGACTGTGCCGGAAGATCATT	0.532													False	0	False	3:51378785	0	A	51378785	G	A	51378785	3	1	18	1	0	0	0	0	1	0	0	0	4718	1116	39	1	4034	1	DOCK3	3	51378785	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	4815705	51378785	146643645	22	1370											
CACNA1D	776	broad.mit.edu	37	chr3	53752385	53752385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagaacgtcagcggtgaagGcgagaaccgaggctgctgtg	17	8	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:53752385G>T	ENST00000288139.4	+	10	1566	c.1448G>T	c.(1447-1449)gGc>gTc	p.G483V	CACNA1D_ENST00000350061.5_Missense_Mutation_p.G483V|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G483V	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AGCGGTGAAGGCGAGAACCGA	0.592													False	0	False	3:53752385	0	T	53752385	G	T	53752385	3	4	18	1	0	0	0	0	1	0	0	0	2561	1203	42	3	1594	3	CACNA1D	3	53752385	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	2373600	53752385	144270045	23	1371											
CADM2	253559	broad.mit.edu	37	chr3	86010650	86010650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtggacaaaggatggcGgagaattaccagatcctgac	12	7	0	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:86010650G>A	ENST00000383699.3	+	8	1450	c.823G>A	c.(823-825)Gga>Aga	p.G275R	CADM2_ENST00000405615.2_Missense_Mutation_p.G268R|CADM2_ENST00000407528.2_Missense_Mutation_p.G266R	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	266	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AAAGGATGGCGGAGAATTACC	0.378													False	0	False	3:86010650	0	A	86010650	G	A	86010650	3	1	18	1	0	0	0	0	1	0	0	0	2587	1117	39	1	893	1	CADM2	3	86010650	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	32258265	86010650	112011780	24	1372											
ADCY5	111	broad.mit.edu	37	chr3	123021980	123021980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagttgacggccgactcCgccacgtgacacgcgttgac	12	14	0	3	rs148384901		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:123021980C>T	ENST00000462833.1	-	14	3858	c.2646G>A	c.(2644-2646)gcG>gcA	p.A882A	ADCY5_ENST00000491190.1_Silent_p.A515A|ADCY5_ENST00000309879.5_Silent_p.A532A	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	882					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGGCCGACTCCGCCACGTGAC	0.652													False	0	False	3:123021980	0	T	123021980	C	T	123021980	2	4	18	1	0	0	0	0	0	0	0	1	297	639	23	1		1	ADCY5	3	123021980	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	37011330	123021980	75000450	25	1373											
LDB2	9079	broad.mit.edu	37	chr4	16504411	16504411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttggccgcatcatattgcGtgttttctaatctagtgatt	9	8	3	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:16504411G>A	ENST00000304523.5	-	8	1300	c.977C>T	c.(976-978)aCg>aTg	p.T326M	LDB2_ENST00000502640.1_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.T324M|LDB2_ENST00000441778.2_3'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	326	LIM-binding domain (LID) (By similarity).						LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						ATCATATTGCGTGTTTTCTAA	0.537													False	0	False	4:16504411	0	A	16504411	G	A	16504411	3	1	18	1	0	0	0	0	1	0	0	0	8747	1145	40	1	148	1	LDB2	4	16504411	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		16504411	174649865	26	1374											
COX7B2	170712	broad.mit.edu	37	chr4	46737152	46737152	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctatgtcttgccatgctttGcagaatgctttgaatcttga	9	8	2	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:46737152G>C	ENST00000396533.1	-	4	308	c.58C>G	c.(58-60)Caa>Gaa	p.Q20E	COX7B2_ENST00000355591.3_Missense_Mutation_p.Q20E|COX7B2_ENST00000302930.5_Missense_Mutation_p.Q20E|COX7B2_ENST00000543208.1_Missense_Mutation_p.Q19E			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	20						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						GCCATGCTTTGCAGAATGCTT	0.423													False	0	True	4:46737152	0	C	46737152	G	C	46737152	3	2	18	1	0	0	0	0	1	0	0	0	3806	1328	46	5	191	5	COX7B2	4	46737152	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	30232741	46737152	144417124	27	1375											
CEP135	9662	broad.mit.edu	37	chr4	56877620	56877620	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcagtgcaagaaaaagaaGaaatgaagagcagagttcat	11	5	1	6			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:56877620G>T	ENST00000257287.4	+	20	2672	c.2548G>T	c.(2548-2550)Gaa>Taa	p.E850*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	850					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAAAGAAGAAATGAAGAG	0.333													False	0	True	4:56877620	0	T	56877620	G	T	56877620	4	4	18	1	0	0	0	0	0	1	0	0	3270	943	33	3	2622	3	CEP135	4	56877620	Nonsense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	10140468	56877620	134276656	28	1376											
NAA11	84779	broad.mit.edu	37	chr4	80246531	80246531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccaggaccacatacccGcccttcttcaggtccatttg	8	16	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:80246531G>A	ENST00000286794.4	-	1	673	c.501C>T	c.(499-501)ggC>ggT	p.G167G	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	167						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CCACATACCCGCCCTTCTTCA	0.532													False	0	True	4:80246531	0	A	80246531	G	A	80246531	2	1	18	1	0	0	0	0	0	0	0	1	10184	1074	38	1		1	NAA11	4	80246531	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	23368911	80246531	110907745	29	1377											
PDHA2	5161	broad.mit.edu	37	chr4	96762066	96762066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctaaaggtcgatggaatGgatgttctgtgtgttcgtga	16	4	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:96762066G>T	ENST00000295266.4	+	1	828	c.765G>T	c.(763-765)atG>atT	p.M255I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	255					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TCGATGGAATGGATGTTCTGT	0.463													False	0	True	4:96762066	0	T	96762066	G	T	96762066	3	4	18	1	0	0	0	0	1	0	0	0	11733	1348	47	3	767	3	PDHA2	4	96762066	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	16515535	96762066	94392210	30	1378											
MYOZ2	51778	broad.mit.edu	37	chr4	120079300	120079300	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaatccagacaacattGctccaggtaaccaatcccct	4	16	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:120079300G>T	ENST00000307128.5	+	4	583	c.370G>T	c.(370-372)Gct>Tct	p.A124S		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	124							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGACAACATTGCTCCAGGTAA	0.438													False	0	False	4:120079300	0	T	120079300	G	T	120079300	3	4	18	1	0	0	0	0	1	0	0	0	10163	1319	46	3	380	3	MYOZ2	4	120079300	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	23317234	120079300	71074976	31	1379											
MAML3	55534	broad.mit.edu	37	chr4	140811087	140811087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgctgctg	14	13	0	0	rs67877726		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:140811087C>T	ENST00000509479.2	-	2	2359	c.1503G>A	c.(1501-1503)caG>caA	p.Q501Q	MAML3_ENST00000398940.1_Intron|MAML3_ENST00000327122.5_Silent_p.Q345Q	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	501	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.532													False	0	True	4:140811087	0	T	140811087	C	T	140811087	2	4	18	1	0	0	0	0	0	0	0	1	9274	796	28	2		2	MAML3	4	140811087	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	20731787	140811087	50343189	32	1380											
PCDHA3	0	broad.mit.edu	37	chr5	140182409	140182409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcgcgatgcgggcgtgCcgcctctgggcagcaacgtg	18	13	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:140182409C>T	ENST00000522353.2	+	1	1627	c.1627C>T	c.(1627-1629)Ccg>Tcg	p.P543S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P543S	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCGTGCCGCCTCTGGG	0.682													False	0	False	5:140182409	0	T	140182409	C	T	140182409	3	4	18	1	0	0	0	0	1	0	0	0	11593	739	26	2	1629	2	PCDHA3	5	140182409	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		140182409	40732851	33	1381											
TCERG1	10915	broad.mit.edu	37	chr5	145886749	145886749	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagagagcactttaggcaActtctggatgaaacttctgc	10	8	2	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:145886749A>G	ENST00000296702.5	+	19	2927	c.2889A>G	c.(2887-2889)caA>caG	p.Q963Q	TCERG1_ENST00000394421.2_Silent_p.Q942Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	963	FF 5.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTTAGGCAACTTCTGGATG	0.338													False	0	False	5:145886749	0	G	145886749	A	G	145886749	2	3	18	1	0	0	0	0	0	0	0	1	15767	40	2	4		4	TCERG1	5	145886749	Silent	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	5704340	145886749	35028511	34	1382											
STK32A	202374	broad.mit.edu	37	chr5	146750320	146750320	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggtcacaggaaatggtgtCacttcttaaaaaggtaagaa	10	6	3	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:146750320C>A	ENST00000397936.3	+	9	1097	c.764C>A	c.(763-765)tCa>tAa	p.S255*	STK32A_ENST00000398523.3_Nonsense_Mutation_p.S255*	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	255	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATGGTGTCACTTCTTAAA	0.418													False	0	False	5:146750320	0	A	146750320	C	A	146750320	4	1	18	1	0	0	0	0	0	1	0	0	15379	838	29	3	827	3	STK32A	5	146750320	Nonsense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	863571	146750320	34164940	35	1383											
GM2A	2760	broad.mit.edu	37	chr5	150639359	150639359	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggataactgtgatgaagGgaaggaccctgcggtgatca	15	7	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:150639359G>C	ENST00000357164.3	+	2	450	c.125G>C	c.(124-126)gGg>gCg	p.G42A		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	42						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGATGAAGGGAAGGACCCT	0.527													False	0	True	5:150639359	0	C	150639359	G	C	150639359	3	2	18	1	0	0	0	0	1	0	0	0	6529	1232	43	5	131	5	GM2A	5	150639359	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	3889039	150639359	30275901	36	1384											
FAM71B	153745	broad.mit.edu	37	chr5	156590194	156590194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagagactggcggcccccGccatcgaggtggaagtacct	16	12	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:156590194G>A	ENST00000302938.4	-	2	1177	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	361						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCGGCCCCCGCCATCGAGGT	0.567													False	0	True	5:156590194	0	A	156590194	G	A	156590194	3	1	18	1	0	0	0	0	1	0	0	0	5648	1087	38	1	739	1	FAM71B	5	156590194	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	5950835	156590194	24325066	37	1385											
PGC	5225	broad.mit.edu	37	chr6	41704646	41704646	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtcgtagacggaatagtAggacctgaggaagacatccc	12	9	0	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:41704646A>G	ENST00000373025.3	-	9	1173	c.1111T>C	c.(1111-1113)Tac>Cac	p.Y371H		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	371					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACGGAATAGTAGGACCTGAGG	0.602													False	0	False	6:41704646	0	G	41704646	A	G	41704646	3	3	18	1	0	0	0	0	1	0	0	0	11854	420	15	4	59	4	PGC	6	41704646	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08		41704646	129410421	38	1386											
TPD52L1	0	broad.mit.edu	37	chr6	125541274	125541274	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagacgaagatgcagtagccAgtgctgacttctctagcatg	11	10	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:125541274A>T	ENST00000534000.1	+	2	366	c.70A>T	c.(70-72)Agt>Tgt	p.S24C	TPD52L1_ENST00000392482.2_5'UTR|TPD52L1_ENST00000368388.2_Missense_Mutation_p.S24C|TPD52L1_ENST00000304877.13_Missense_Mutation_p.S24C|TPD52L1_ENST00000534199.1_5'UTR|TPD52L1_ENST00000532429.1_5'UTR|TPD52L1_ENST00000368402.5_Missense_Mutation_p.S24C|HDDC2_ENST00000608456.1_5'UTR|TPD52L1_ENST00000528193.1_Missense_Mutation_p.S24C|TPD52L1_ENST00000524679.1_5'UTR|TPD52L1_ENST00000527711.1_Missense_Mutation_p.S24C	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	24					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		TGCAGTAGCCAGTGCTGACTT	0.378													False	0	False	6:125541274	0	T	125541274	A	T	125541274	3	4	18	1	0	0	0	0	1	0	0	0	16481	188	7	5	76	5	TPD52L1	6	125541274	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	83836628	125541274	45573793	39	1387											
KIAA0408	9729	broad.mit.edu	37	chr6	127771349	127771349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaccatctttgtgattcGtccttataaattcactttgt	5	9	3	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:127771349G>A	ENST00000483725.3	-	3	620	c.284C>T	c.(283-285)aCg>aTg	p.T95M	SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	95							protein binding	p.T95M(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTTGTGATTCGTCCTTATAAA	0.358													False	0	False	6:127771349	0	A	127771349	G	A	127771349	3	1	18	1	0	0	0	0	1	0	0	0	8224	1145	40	1	1816	1	KIAA0408	6	127771349	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	2230075	127771349	43343718	40	1388											
TAAR8	83551	broad.mit.edu	37	chr6	132874742	132874742	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtgcttattataactcagCcatgaatcctttgatttatg	7	7	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:132874742C>A	ENST00000275200.1	+	1	911	c.911C>A	c.(910-912)gCc>gAc	p.A304D		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	304						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TATAACTCAGCCATGAATCCT	0.343													False	0	False	6:132874742	0	A	132874742	C	A	132874742	3	1	18	1	0	0	0	0	1	0	0	0	15575	739	26	3	913	3	TAAR8	6	132874742	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	5103393	132874742	38240325	41	1389											
FNDC1	84624	broad.mit.edu	37	chr6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-													agcagtcggtctcagccgagGacgacgaggaggaggacgcg							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65													False	2	False	6:159655079	0	-	159655081	GAC	-	159655079	7	5	18	1	0	1	0	1	0	0	0	0	6008	1174	41	0	3577	0	FNDC1	6	159655079	In_Frame_Del	DEL	GAC	TCGA-2L-AAQJ-01A-12D-A397-08	26780337	159655079	11459988	42	1390											
SDK1	221935	broad.mit.edu	37	chr7	4188979	4188979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagtgggtcccgggcagCgacggggcctcccccatccg	14	18	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:4188979C>T	ENST00000404826.2	+	30	4648	c.4509C>T	c.(4507-4509)agC>agT	p.S1503S	SDK1_ENST00000389531.3_Silent_p.S1503S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1503	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCCCGGGCAGCGACGGGGCCT	0.677													False	0	False	7:4188979	0	T	4188979	C	T	4188979	2	4	18	1	0	0	0	0	0	0	0	1	14049	767	27	1		1	SDK1	7	4188979	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		4188979	154949684	43	1391											
WIPI2	26100	broad.mit.edu	37	chr7	5232787	5232787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcagctggtcttggccGtcgcgctgttgtctggttag	15	9	2	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:5232787G>A	ENST00000288828.4	+	2	345	c.113G>A	c.(112-114)cGt>cAt	p.R38H	WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000404704.3_Missense_Mutation_p.R38H|WIPI2_ENST00000485854.1_Intron	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	38					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GGTCTTGGCCGTCGCGCTGTT	0.388													False	0	False	7:5232787	0	A	5232787	G	A	5232787	3	1	18	1	0	0	0	0	1	0	0	0	17455	1145	40	1	119	1	WIPI2	7	5232787	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	1043808	5232787	153905876	44	1392											
FSCN1	6624	broad.mit.edu	37	chr7	5644983	5644983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcctgtggacttcttcttcGagttctgcgactataacaag	8	11	3	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:5644983G>A	ENST00000382361.3	+	5	1474	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	FSCN1_ENST00000340250.6_Missense_Mutation_p.E433K	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	454					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CTTCTTCTTCGAGTTCTGCGA	0.617													False	0	True	7:5644983	0	A	5644983	G	A	5644983	3	1	18	1	0	0	0	0	1	0	0	0	6109	1059	37	1	1378	1	FSCN1	7	5644983	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	412196	5644983	153493680	45	1393											
CDK13	8621	broad.mit.edu	37	chr7	40027359	40027359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaattgaacaagaataaaaAagcacgagcagcagaggcag	11	6	0	4			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:40027359A>C	ENST00000181839.4	+	2	1978	c.1373A>C	c.(1372-1374)aAa>aCa	p.K458T	CDK13_ENST00000340829.5_Missense_Mutation_p.K458T	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	458					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGAATAAAAAagcacgagca	0.488													False	0	True	7:40027359	0	C	40027359	A	C	40027359	3	2	18	1	0	0	0	0	1	0	0	0	3152	14	1	4	1379	4	CDK13	7	40027359	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	34382376	40027359	119111304	46	1394											
GLI3	2737	broad.mit.edu	37	chr7	42005299	42005299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcaaagtcaccgggcccGtggggcactttgctgtcgtc	14	13	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:42005299G>A	ENST00000395925.3	-	15	3456	c.3372C>T	c.(3370-3372)caC>caT	p.H1124H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1124					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CACCGGGCCCGTGGGGCACTT	0.657									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	True	7:42005299	0	A	42005299	G	A	42005299	2	1	18	1	0	0	0	0	0	0	0	1	6484	1136	40	1		1	GLI3	7	42005299	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	1977940	42005299	117133364	47	1395											
OGDH	4967	broad.mit.edu	37	chr7	44715672	44715672	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccaacccttcccaccTtgaggccgctgaccccgtgg	12	17	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:44715672T>C	ENST00000222673.5	+	9	1172	c.1130T>C	c.(1129-1131)cTt>cCt	p.L377P	OGDH_ENST00000444676.1_Missense_Mutation_p.L392P|OGDH_ENST00000443864.2_Missense_Mutation_p.L377P|OGDH_ENST00000449767.1_Missense_Mutation_p.L373P|OGDH_ENST00000543843.1_Missense_Mutation_p.L328P|OGDH_ENST00000447398.1_Missense_Mutation_p.L388P|OGDH_ENST00000439616.2_Missense_Mutation_p.L227P	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	377					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCTTCCCACCTTGAGGCCGCT	0.557													False	0	False	7:44715672	0	C	44715672	T	C	44715672	3	2	18	1	0	0	0	0	1	0	0	0	10907	1609	56	4	1255	4	OGDH	7	44715672	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	2710373	44715672	114422991	48	1396											
C7orf57	136288	broad.mit.edu	37	chr7	48080979	48080979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgagaaggccgtggatgCcccaccagcgtcccagatcc	11	16	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:48080979C>T	ENST00000348904.3	+	3	316	c.104C>T	c.(103-105)gCc>gTc	p.A35V	C7orf57_ENST00000420324.1_Missense_Mutation_p.A80V|C7orf57_ENST00000539619.1_Missense_Mutation_p.A35V|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.A80V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	35										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GCCGTGGATGCCCCACCAGCG	0.567													False	0	True	7:48080979	0	T	48080979	C	T	48080979	3	4	18	1	0	0	0	0	1	0	0	0	2423	739	26	2	110	2	C7orf57	7	48080979	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	3365307	48080979	111057684	49	1397											
MAGI2	9863	broad.mit.edu	37	chr7	77885649	77885649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaactgactgtgaggtcCgagaaatgtactccaaatat	10	8	0	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:77885649C>T	ENST00000354212.4	-	10	1911	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	MAGI2_ENST00000522391.1_Missense_Mutation_p.R553Q|MAGI2_ENST00000535697.1_Missense_Mutation_p.R390Q|MAGI2_ENST00000536571.1_Missense_Mutation_p.R385Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.R553Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	553						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGTGAGGTCCGAGAAATGTA	0.512													False	0	False	7:77885649	0	T	77885649	C	T	77885649	3	4	18	1	0	0	0	0	1	0	0	0	9258	652	23	1	2761	1	MAGI2	7	77885649	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	29804670	77885649	81253014	50	1398											
DOCK4	9732	broad.mit.edu	37	chr7	111368508	111368508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggggcgccgcagagtcCgctcgtagacgctgtacggg	18	12	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:111368508C>T	ENST00000428084.1	-	53	6022	c.5750G>A	c.(5749-5751)cGg>cAg	p.R1917Q	DOCK4_ENST00000437633.1_Missense_Mutation_p.R1908Q|DOCK4_ENST00000494651.2_Missense_Mutation_p.R791Q			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1908	Pro-rich.		P -> L.		cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCGCAGAGTCCGCTCGTAGAC	0.731													False	0	False	7:111368508	0	T	111368508	C	T	111368508	3	4	18	1	0	0	0	0	1	0	0	0	4719	652	23	1	181	1	DOCK4	7	111368508	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	33482859	111368508	47770155	51	1399											
FAM71F1	84691	broad.mit.edu	37	chr7	128363345	128363345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctgtctcagatttttgCcgacttacaccagcagaacc	7	14	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:128363345C>T	ENST00000315184.5	+	4	835	c.782C>T	c.(781-783)gCc>gTc	p.A261V	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	261								p.A261V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAGATTTTTGCCGACTTACAC	0.502													False	0	False	7:128363345	0	T	128363345	C	T	128363345	3	4	18	1	0	0	0	0	1	0	0	0	5652	739	26	2	796	2	FAM71F1	7	128363345	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	16994837	128363345	30775318	52	1400											
PTPRN2	5799	broad.mit.edu	37	chr7	157926586	157926586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatacgtctggctcttgaCgttctccactccggcagtct	10	13	4	1	rs142388788		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:157926586C>T	ENST00000389413.3	-	9	1442	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I	PTPRN2_ENST00000389418.4_Missense_Mutation_p.V447I|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V470I|PTPRN2_ENST00000409483.1_Missense_Mutation_p.V409I|PTPRN2_ENST00000389416.4_Missense_Mutation_p.V430I	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	447						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGGCTCTTGACGTTCTCCACT	0.612													False	0	False	7:157926586	0	T	157926586	C	T	157926586	3	4	18	1	0	0	0	0	1	0	0	0	12887	536	19	1	1768	1	PTPRN2	7	157926586	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	29563241	157926586	1212077	53	1401											
CSMD1	64478	broad.mit.edu	37	chr8	3216706	3216706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggtgcactccacacaCggcggcccccacccaggcag	12	18	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:3216706C>T	ENST00000602557.1	-	22	3830	c.3275G>A	c.(3274-3276)cGt>cAt	p.R1092H	CSMD1_ENST00000542608.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1092H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1092	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCCACACACGGCGGCCCCC	0.562													False	0	True	8:3216706	0	T	3216706	C	T	3216706	3	4	18	1	0	0	0	0	1	0	0	0	3969	536	19	1	7622	1	CSMD1	8	3216706	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		3216706	143147316	54	1402											
LOXL2	4017	broad.mit.edu	37	chr8	23191082	23191082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgtgggcctctgtgccGgtgcagtccatggagaatgg	17	8	1	2	rs72292483		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:23191082G>A	ENST00000389131.3	-	5	1167	c.798C>T	c.(796-798)acC>acT	p.T266T		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	266	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCTCTGTGCCGGTGCAGTCCA	0.617													False	0	False	8:23191082	0	A	23191082	G	A	23191082	2	1	18	1	0	0	0	0	0	0	0	1	8962	1103	39	1		1	LOXL2	8	23191082	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	19974376	23191082	123172940	55	1403											
ENTPD4	9583	broad.mit.edu	37	chr8	23294452	23294452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctcaagggtacctttgCagctttagtaaatttagcag	9	8	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:23294452C>T	ENST00000358689.4	-	10	1604	c.1369G>A	c.(1369-1371)Gca>Aca	p.A457T	ENTPD4_ENST00000521321.1_5'UTR|ENTPD4_ENST00000356206.6_Missense_Mutation_p.A449T|ENTPD4_ENST00000417069.2_Missense_Mutation_p.A449T	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	457					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGTACCTTTGCAGCTTTAGTA	0.483													False	0	False	8:23294452	0	T	23294452	C	T	23294452	3	4	18	1	0	0	0	0	1	0	0	0	5173	710	25	2	497	2	ENTPD4	8	23294452	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	103370	23294452	123069570	56	1404											
DOCK5	80005	broad.mit.edu	37	chr8	25193885	25193885	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaatcccgagtgctctacTtgaggtaatgttaactgcag	9	10	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:25193885T>C	ENST00000276440.7	+	22	2367	c.2323T>C	c.(2323-2325)Ttg>Ctg	p.L775L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	775						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGTGCTCTACTTGAGGTAATG	0.448													False	0	False	8:25193885	0	C	25193885	T	C	25193885	2	2	18	1	0	0	0	0	0	0	0	1	4720	1606	56	4		4	DOCK5	8	25193885	Silent	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	1899433	25193885	121170137	57	1405											
NRG1	3084	broad.mit.edu	37	chr8	32505842	32505842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaaccctgaggtgagaacGcccaagtcagcaactcagcc	11	14	2	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:32505842G>A	ENST00000520502.2	+	1	606	c.606G>A	c.(604-606)acG>acA	p.T202T	NRG1_ENST00000405005.3_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000341377.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	463	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGGTGAGAACGCCCAAGTCAG	0.493													False	0	True	8:32505842	0	A	32505842	G	A	32505842	2	1	18	1	0	0	0	0	0	0	0	1	10715	1074	38	1		1	NRG1	8	32505842	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	7311957	32505842	113858180	58	1406											
PAG1	55824	broad.mit.edu	37	chr8	81888976	81888976	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtgtgctgtttggagTtttttcgaagtctttaacag	12	4	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:81888976T>G	ENST00000220597.4	-	9	1812	c.1102A>C	c.(1102-1104)Act>Cct	p.T368P		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	368					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CTGTTTGGAGTTTTTTCGAAG	0.512													False	0	True	8:81888976	0	G	81888976	T	G	81888976	3	3	18	1	0	0	0	0	1	0	0	0	11456	1725	60	4	200	4	PAG1	8	81888976	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	49383134	81888976	64475046	59	1407											
COL14A1	7373	broad.mit.edu	37	chr8	121160087	121160087	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagcggaaaataaaatgaaGattttccagcgcaagatgcg	10	6	0	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:121160087G>T	ENST00000297848.3	+	2	276	c.6G>T	c.(4-6)aaG>aaT	p.K2N	COL14A1_ENST00000537875.1_Missense_Mutation_p.K2N|COL14A1_ENST00000309791.4_Missense_Mutation_p.K2N|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.K2N	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	2					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATAAAATGAAGATTTTCCAGC	0.383													False	0	False	8:121160087	0	T	121160087	G	T	121160087	3	4	18	1	0	0	0	0	1	0	0	0	3694	933	33	3	8	3	COL14A1	8	121160087	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	39271111	121160087	25203935	60	1408											
PTPRD	5789	broad.mit.edu	37	chr9	8633320	8633320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacttgagcacttaccccGcaaaactgtgagtctggtgg	10	11	2	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:8633320G>A	ENST00000381196.4	-	11	892	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	PTPRD_ENST00000358503.5_Missense_Mutation_p.R117W|PTPRD_ENST00000355233.5_Missense_Mutation_p.R117W|PTPRD_ENST00000486161.1_Missense_Mutation_p.R117W|PTPRD_ENST00000397617.3_Missense_Mutation_p.R117W|PTPRD_ENST00000540109.1_Missense_Mutation_p.R117W|PTPRD_ENST00000356435.5_Missense_Mutation_p.R117W|PTPRD_ENST00000397606.3_Missense_Mutation_p.R117W|PTPRD_ENST00000397611.3_Missense_Mutation_p.R117W|PTPRD_ENST00000463477.1_Missense_Mutation_p.R117W|PTPRD_ENST00000537002.1_Missense_Mutation_p.R117W|PTPRD_ENST00000360074.4_Missense_Mutation_p.R117W	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	117					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTTACCCCGCAAAACTGTG	0.418										TSP Lung(15;0.13)			False	0	True	9:8633320	0	A	8633320	G	A	8633320	3	1	18	1	0	0	0	0	1	0	0	0	12878	1086	38	1	5589	1	PTPRD	9	8633320	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		8633320	132580111	61	1409											
CDKN2A	1029	broad.mit.edu	37	chr9	21974769	21974770	+	In_Frame_Ins	INS	-	-	GGCCGT													tctacccgaccccgggccgcINSggccgtggccagccagtcag							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:21974769_21974770insGGCCGT	ENST00000304494.5	-	1	327_328	c.57_58insACGGCC	c.(55-60)gccgcg>gccACGGCCgcg	p.18_19insAT	CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_In_Frame_Ins_p.18_19insAT|CDKN2A_ENST00000498124.1_In_Frame_Ins_p.18_19insAT|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_In_Frame_Ins_p.18_19insAT|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	18					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.A20T(2)|p.S12fs*6(1)|p.0(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.A20_A21del(1)|p.A20S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCGGGCCGCGGCCGTGGCCA	0.743		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	1	False	9:21974769	0	GGCCGT	21974770	-	GGCCGT	21974769	7	5	18	1	0	1	1	0	0	0	0	0	3184	768	27	0	625	0	CDKN2A	9	21974769	In_Frame_Ins	INS	-	TCGA-2L-AAQJ-01A-12D-A397-08	13341449	21974769	119238662	62	1410											
SH2D3C	10044	broad.mit.edu	37	chr9	130511512	130511512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggggcagccatcgctgcGggtgaccttgtcagcagtga	17	10	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:130511512G>A	ENST00000314830.8	-	5	1230	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	SH2D3C_ENST00000420366.1_Missense_Mutation_p.R215C|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R216C|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R213C|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R19C|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R305C	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	373					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.R373S(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCATCGCTGCGGGTGACCTTG	0.617													False	0	True	9:130511512	0	A	130511512	G	A	130511512	3	1	18	1	0	0	0	0	1	0	0	0	14315	1116	39	1	1497	1	SH2D3C	9	130511512	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	108536743	130511512	10701919	63	1411											
LRRC8A	56262	broad.mit.edu	37	chr9	131669884	131669884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttctggttcaaattcccGcgcaccagctcgaagctgga	9	13	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:131669884G>A	ENST00000259324.5	+	3	964	c.441G>A	c.(439-441)ccG>ccA	p.P147P	LRRC8A_ENST00000372599.3_Silent_p.P147P|LRRC8A_ENST00000372600.4_Silent_p.P147P	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	147					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TCAAATTCCCGCGCACCAGCT	0.572													False	0	True	9:131669884	0	A	131669884	G	A	131669884	2	1	18	1	0	0	0	0	0	0	0	1	9083	1074	38	1		1	LRRC8A	9	131669884	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	1158372	131669884	9543547	64	1412											
ENTPD2	954	broad.mit.edu	37	chr9	139944888	139944888	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaccctggcactgctgttgaAgttctggggccgctgggcca	15	12	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:139944888A>T	ENST00000355097.2	-	6	924	c.877T>A	c.(877-879)Ttc>Atc	p.F293I	ENTPD2_ENST00000312665.5_Missense_Mutation_p.F293I	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	293						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTGCTGTTGAAGTTCTGGGGC	0.632											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:139944888	0	T	139944888	A	T	139944888	3	4	18	1	0	0	0	0	1	0	0	0	5171	72	3	5	626	5	ENTPD2	9	139944888	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	8275004	139944888	1268543	65	1413											
MYO3A	53904	broad.mit.edu	37	chr10	26434386	26434386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctacagaaaaatttgaaGgtaacctgaaatcacaatac	5	7	2	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:26434386G>A	ENST00000265944.5	+	22	2594	c.2428G>A	c.(2428-2430)Ggt>Agt	p.G810S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	810	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAAATTTGAAGGTAACCTGAA	0.313													False	0	False	10:26434386	0	A	26434386	G	A	26434386	3	1	18	1	0	0	0	0	1	0	0	0	10143	1000	35	2	2506	2	MYO3A	10	26434386	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		26434386	109100361	66	1414											
KIAA1462	57608	broad.mit.edu	37	chr10	30336573	30336573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttccccgcggacgtcttacGatgtgcgagggccgcagggc	15	13	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:30336573G>A	ENST00000375377.1	-	2	270	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	57										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GACGTCTTACGATGTGCGAGG	0.662													False	0	False	10:30336573	0	A	30336573	G	A	30336573	3	1	18	1	0	0	0	0	1	0	0	0	8284	1058	37	1	3922	1	KIAA1462	10	30336573	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	3902187	30336573	105198174	67	1415											
PLCE1	51196	broad.mit.edu	37	chr10	95791760	95791760	+	Frame_Shift_Del	DEL	G	G	-													gacgcttttaaaagcaaaaaGgagcgatccactttgttagt							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:95791760delG	ENST00000371380.2	+	1	1192	c.957delG	c.(955-957)aagfs	p.K319fs	PLCE1_ENST00000260766.3_Frame_Shift_Del_p.K319fs			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	319					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGCAAAAAGGAGCGATCCA	0.388													False	2	True	10:95791760	0	-	95791760	G	-	95791760	7	5	18	1	0	1	0	1	0	0	0	0	12103	991	35	0	959	0	PLCE1	10	95791760	Frame_Shift_Del	DEL	G	TCGA-2L-AAQJ-01A-12D-A397-08	65455187	95791760	39742987	68	1416											
OR51I1	390063	broad.mit.edu	37	chr11	5462461	5462461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccaggcaagcattaaacGcaacatggttgtagttgaag	12	7	0	1	rs115148889		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:5462461G>A	ENST00000380211.1	-	1	283	c.284C>T	c.(283-285)gCg>gTg	p.A95V	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATTAAACGCAACATGGTT	0.458													False	0	False	11:5462461	0	A	5462461	G	A	5462461	3	1	18	1	0	0	0	0	1	0	0	0	11168	1087	38	1	664	1	OR51I1	11	5462461	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		5462461	129544055	69	1417											
OR5J2	282775	broad.mit.edu	37	chr11	55944377	55944377	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaaggcaacaatttctttctCtgcttgcatggtacagcatt	8	9	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:55944377C>G	ENST00000312298.1	+	1	284	c.284C>G	c.(283-285)tCt>tGt	p.S95C		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATTTCTTTCTCTGCTTGCATG	0.458													False	0	True	11:55944377	0	G	55944377	C	G	55944377	3	3	18	1	0	0	0	0	1	0	0	0	11233	913	32	5	286	5	OR5J2	11	55944377	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	50481916	55944377	79062139	70	1418											
SYT12	91683	broad.mit.edu	37	chr11	66807576	66807576	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgaacgtggcggtgatgCagggcaaggacctcctggag	17	10	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:66807576C>T	ENST00000393946.2	+	7	1685	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Nonsense_Mutation_p.Q175*|SYT12_ENST00000525457.1_Nonsense_Mutation_p.Q175*			Q8IV01	SYT12_HUMAN	synaptotagmin XII	175	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GGCGGTGATGCAGGGCAAGGA	0.632													False	0	False	11:66807576	0	T	66807576	C	T	66807576	4	4	18	1	0	0	0	0	0	1	0	0	15550	711	25	2	533	2	SYT12	11	66807576	Nonsense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	10863199	66807576	68198940	71	1419											
PDE2A	5138	broad.mit.edu	37	chr11	72295749	72295749	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccgcgatgccctgatcGgccgggatgcggatctcata	13	13	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:72295749G>A	ENST00000334456.5	-	18	1628	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	PDE2A_ENST00000540345.1_Silent_p.A452A|PDE2A_ENST00000544570.1_Silent_p.A454A|PDE2A_ENST00000376450.3_Silent_p.A205A|PDE2A_ENST00000418754.2_Silent_p.A346A|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000444035.2_Silent_p.A452A	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	461	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TGCCCTGATCGGCCGGGATGC	0.622													False	0	False	11:72295749	0	A	72295749	G	A	72295749	2	1	18	1	0	0	0	0	0	0	0	1	11704	1103	39	1		1	PDE2A	11	72295749	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	5488173	72295749	62710767	72	1420											
USP35	57558	broad.mit.edu	37	chr11	77907359	77907359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaagcaggggctggttcGgcgcgtgctggaggcggcgc	21	10	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:77907359G>A	ENST00000529308.1	+	2	329	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	23					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGGCTGGTTCGGCGCGTGCTG	0.716													False	0	False	11:77907359	0	A	77907359	G	A	77907359	3	1	18	1	0	0	0	0	1	0	0	0	17150	1116	39	1	70	1	USP35	11	77907359	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	5611610	77907359	57099157	73	1421											
DYNC2H1	79659	broad.mit.edu	37	chr11	102980335	102980335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgcggacgttcggaagcTcttcatcttcactactaccc	8	14	4	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:102980335T>C	ENST00000375735.2	+	1	176	c.32T>C	c.(31-33)cTc>cCc	p.L11P	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.L11P|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L11P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	11	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTCGGAAGCTCTTCATCTTC	0.507													False	0	False	11:102980335	0	C	102980335	T	C	102980335	3	2	18	1	0	0	0	0	1	0	0	0	4876	1551	54	4	34	4	DYNC2H1	11	102980335	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	25072976	102980335	32026181	74	1422											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343367	130343367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaccaggtggagcagcCggacgacaggccccctgcac	12	17	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:130343367C>T	ENST00000299164.2	+	8	2504	c.2504C>T	c.(2503-2505)cCg>cTg	p.P835L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	835	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTGGAGCAGCCGGACGACAGG	0.697													False	0	False	11:130343367	0	T	130343367	C	T	130343367	3	4	18	1	0	0	0	0	1	0	0	0	260	652	23	1	2534	1	ADAMTS15	11	130343367	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	27363032	130343367	4663149	75	1423											
VWF	7450	broad.mit.edu	37	chr12	6138548	6138548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggagatgctcaggtggCggtcccagaccacggagagg	16	12	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:6138548C>T	ENST00000261405.5	-	22	3181	c.2927G>A	c.(2926-2928)cGc>cAc	p.R976H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	976	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTCAGGTGGCGGTCCCAGAC	0.557													False	0	False	12:6138548	0	T	6138548	C	T	6138548	3	4	18	1	0	0	0	0	1	0	0	0	17330	768	27	1	5638	1	VWF	12	6138548	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		6138548	127713347	76	1424											
LPCAT3	10162	broad.mit.edu	37	chr12	7086376	7086376	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatataaggcaatatgaataGtaggctcaggaagaagatgt	11	3	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:7086376G>C	ENST00000261407.4	-	12	1481	c.1396C>G	c.(1396-1398)Cta>Gta	p.L466V	LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	466					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AATATGAATAGTAGGCTCAGG	0.418													False	0	False	12:7086376	0	C	7086376	G	C	7086376	3	2	18	1	0	0	0	0	1	0	0	0	8974	1020	36	5	71	5	LPCAT3	12	7086376	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	947828	7086376	126765519	77	1425											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	18	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	18311908	25398284	108453611	78	1426											
IRAK3	0	broad.mit.edu	37	chr12	66641598	66641598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtaccaagtattccagtgGaagatgatgaaagccagaat	10	6	0	4			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:66641598G>A	ENST00000261233.4	+	12	1859	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	IRAK3_ENST00000457197.2_Missense_Mutation_p.E419K	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	480					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTCCAGTGGAAGATGATGA	0.428													False	0	False	12:66641598	0	A	66641598	G	A	66641598	3	1	18	1	0	0	0	0	1	0	0	0	7874	1175	41	2	1484	2	IRAK3	12	66641598	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	41243314	66641598	67210297	79	1427											
CAND1	55832	broad.mit.edu	37	chr12	67691335	67691335	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaatatagtttttgtagatCttattgaacatctgttgtca	7	4	3	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:67691335C>T	ENST00000545606.1	+	5	1077	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	214					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTTGTAGATCTTATTGAACA	0.403													False	0	False	12:67691335	0	T	67691335	C	T	67691335	3	4	18	1	0	0	0	0	1	0	0	0	2635	913	32	2	658	2	CAND1	12	67691335	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	1049737	67691335	66160560	80	1428											
RFX4	5992	broad.mit.edu	37	chr12	107090097	107090097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacttttggcaaggaatgCcgccccacatgctgcctgtg	11	13	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:107090097C>T	ENST00000392842.1	+	8	1120	c.706C>T	c.(706-708)Ccg>Tcg	p.P236S	RFX4_ENST00000357881.4_Missense_Mutation_p.P245S|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P142S	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	236					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GCAAGGAATGCCGCCCCACAT	0.552													False	0	False	12:107090097	0	T	107090097	C	T	107090097	3	4	18	1	0	0	0	0	1	0	0	0	13344	739	26	2	909	2	RFX4	12	107090097	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	39398762	107090097	26761798	81	1429											
BTBD11	121551	broad.mit.edu	37	chr12	108051434	108051434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctccaggacttacagaGgacgttggccatcagaattc	11	10	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:108051434G>T	ENST00000280758.5	+	17	3782	c.3254G>T	c.(3253-3255)aGg>aTg	p.R1085M	BTBD11_ENST00000494235.2_Missense_Mutation_p.R164M|BTBD11_ENST00000420571.2_Missense_Mutation_p.R966M|BTBD11_ENST00000357167.4_Missense_Mutation_p.R622M	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1085						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GACTTACAGAGGACGTTGGCC	0.493													False	0	False	12:108051434	0	T	108051434	G	T	108051434	3	4	18	1	0	0	0	0	1	0	0	0	1546	1000	35	3	3425	3	BTBD11	12	108051434	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	961337	108051434	25800461	82	1430											
PRDM4	11108	broad.mit.edu	37	chr12	108138409	108138409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaggtccaaagcaagtccGcacaggaatggtttctccag	11	10	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:108138409G>A	ENST00000228437.5	-	7	1765	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	436	SET.				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AAGCAAGTCCGCACAGGAATG	0.463													False	0	False	12:108138409	0	A	108138409	G	A	108138409	3	1	18	1	0	0	0	0	1	0	0	0	12535	1086	38	1	1123	1	PRDM4	12	108138409	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	86975	108138409	25713486	83	1431											
TRPV4	59341	broad.mit.edu	37	chr12	110221488	110221488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggtggccatcgcagcGggggttccccatgctgtcca	14	14	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:110221488G>A	ENST00000418703.2	-	15	2648	c.2554C>T	c.(2554-2556)Cgc>Tgc	p.R852C	TRPV4_ENST00000261740.2_Missense_Mutation_p.R852C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R792C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R745C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R818C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R792C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R805C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R805C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	852					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCATCGCAGCGGGGGTTCCCC	0.642													False	0	True	12:110221488	0	A	110221488	G	A	110221488	3	1	18	1	0	0	0	0	1	0	0	0	16681	1116	39	1	65	1	TRPV4	12	110221488	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	2083079	110221488	23630407	84	1432											
CLIP1	6249	broad.mit.edu	37	chr12	122825945	122825945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgcttttcaatgactcGttctctttggaaagcttttc	7	9	2	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:122825945G>A	ENST00000358808.2	-	10	1927	c.1773C>T	c.(1771-1773)aaC>aaT	p.N591N	CLIP1_ENST00000361654.4_Silent_p.N556N|CLIP1_ENST00000540338.1_Silent_p.N602N|CLIP1_ENST00000537178.1_Silent_p.N556N|CLIP1_ENST00000545889.1_Silent_p.N292N|CLIP1_ENST00000302528.7_Silent_p.N591N	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	602					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCAATGACTCGTTCTCTTTGG	0.468													False	0	False	12:122825945	0	A	122825945	G	A	122825945	2	1	18	1	0	0	0	0	0	0	0	1	3555	1136	40	1		1	CLIP1	12	122825945	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	12604457	122825945	11025950	85	1433											
SACS	26278	broad.mit.edu	37	chr13	23912096	23912096	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaagactttggtcagttcTttcccttttccatgagctat	8	9	2	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr13:23912096T>G	ENST00000382298.3	-	10	6507	c.5919A>C	c.(5917-5919)aaA>aaC	p.K1973N	SACS_ENST00000402364.1_Missense_Mutation_p.K1223N|SACS_ENST00000382292.3_Missense_Mutation_p.K1973N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1973					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGGTCAGTTCTTTCCCTTTTC	0.363													False	0	True	13:23912096	0	G	23912096	T	G	23912096	3	3	18	1	0	0	0	0	1	0	0	0	13883	1606	56	4	7824	4	SACS	13	23912096	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08		23912096	91257782	86	1434											
FREM2	341640	broad.mit.edu	37	chr13	39262875	39262875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccctgcaggcagtggtcCgcaaaacttggtcatcagcg	13	12	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr13:39262875C>T	ENST00000280481.7	+	1	1610	c.1394C>T	c.(1393-1395)cCg>cTg	p.P465L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	465					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P465L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGCAGTGGTCCGCAAAACTTG	0.582													False	0	False	13:39262875	0	T	39262875	C	T	39262875	3	4	18	1	0	0	0	0	1	0	0	0	6087	652	23	1	1396	1	FREM2	13	39262875	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	15350779	39262875	75907003	87	1435											
SIAH3	283514	broad.mit.edu	37	chr13	46357678	46357678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaagaacagaccggggcGtggcctcccacttgaggcgc	13	14	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr13:46357678G>A	ENST00000400405.2	-	2	756	c.650C>T	c.(649-651)aCg>aTg	p.T217M		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	217					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGACCGGGGCGTGGCCTCCCA	0.612													False	0	False	13:46357678	0	A	46357678	G	A	46357678	3	1	18	1	0	0	0	0	1	0	0	0	14382	1145	40	1	163	1	SIAH3	13	46357678	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	7094803	46357678	68812200	88	1436											
JPH4	84502	broad.mit.edu	37	chr14	24040339	24040339	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgaactgtcgctgcagCctccgaggagtggggaaccg	14	12	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:24040339C>A	ENST00000397118.3	-	6	2503	c.1601G>T	c.(1600-1602)gGc>gTc	p.G534V	JPH4_ENST00000356300.4_Missense_Mutation_p.G534V|JPH4_ENST00000544177.1_Missense_Mutation_p.G199V	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	534					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTCGCTGCAGCCTCCGAGGAG	0.667													False	0	False	14:24040339	0	A	24040339	C	A	24040339	3	1	18	1	0	0	0	0	1	0	0	0	8013	739	26	3	293	3	JPH4	14	24040339	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		24040339	83309201	89	1437											
ARHGAP5	394	broad.mit.edu	37	chr14	32623887	32623887	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttatccatctgtttttgGccaaccttgatgagacctga	7	10	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:32623887G>A	ENST00000345122.3	+	7	4557	c.4242G>A	c.(4240-4242)tgG>tgA	p.W1414*	ARHGAP5_ENST00000396582.2_Nonsense_Mutation_p.W149*|ARHGAP5_ENST00000433497.1_Nonsense_Mutation_p.W153*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.W1413*|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.W1414*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.W1413*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1414	Rho-GAP.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TCTGTTTTTGGCCAACCTTGA	0.338													False	0	False	14:32623887	0	A	32623887	G	A	32623887	4	1	18	1	0	0	0	0	0	1	0	0	888	1212	42	2	4264	2	ARHGAP5	14	32623887	Nonsense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	8583548	32623887	74725653	90	1438											
AKAP6	9472	broad.mit.edu	37	chr14	33291973	33291973	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagagcaaaagataaaaCgaagtgtttctgatatcact	7	8	3	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:33291973C>T	ENST00000280979.4	+	13	5124	c.4954C>T	c.(4954-4956)Cga>Tga	p.R1652*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1652	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAGATAAAACGAAGTGTTTC	0.418													False	0	True	14:33291973	0	T	33291973	C	T	33291973	4	4	18	1	0	0	0	0	0	1	0	0	455	528	19	1	5000	1	AKAP6	14	33291973	Nonsense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	668086	33291973	74057567	91	1439											
DIO3	1735	broad.mit.edu	37	chr14	102028119	102028119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggcgaggaggtgcctcccGatgacccgcccatctgcgtg	14	14	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:102028119G>A	ENST00000510508.4	+	1	432	c.286G>A	c.(286-288)Gat>Aat	p.D96N	DIO3_ENST00000359323.3_Missense_Mutation_p.D70N			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	70					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GGTGCCTCCCGATGACCCGCC	0.642													False	0	True	14:102028119	0	A	102028119	G	A	102028119	3	1	18	1	0	0	0	0	1	0	0	0	4556	1058	37	1	288	1	DIO3	14	102028119	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	68736146	102028119	5321421	92	1440											
KIF26A	26153	broad.mit.edu	37	chr14	104618363	104618363	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtcctcaggatccttgcctCtctgccctgcttctcgacaa	7	16	3	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:104618363C>A	ENST00000423312.2	+	3	300	c.300C>A	c.(298-300)ctC>ctA	p.L100L	KIF26A_ENST00000315264.7_5'UTR	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	100					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ATCCTTGCCTCTCTGCCCTGC	0.672													False	0	True	14:104618363	0	A	104618363	C	A	104618363	2	1	18	1	0	0	0	0	0	0	0	1	8344	900	32	3		3	KIF26A	14	104618363	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	2590244	104618363	2731177	93	1441											
VPS39	23339	broad.mit.edu	37	chr15	42457994	42457994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcagagactccacttcCgggagatcttcagtaaatat	10	10	2	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:42457994C>T	ENST00000318006.5	-	17	1863	c.1701G>A	c.(1699-1701)ccG>ccA	p.P567P	VPS39_ENST00000348544.4_Silent_p.P578P	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	578					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACTCCACTTCCGGGAGATCTT	0.473													False	0	True	15:42457994	0	T	42457994	C	T	42457994	2	4	18	1	0	0	0	0	0	0	0	1	17293	639	23	1		1	VPS39	15	42457994	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		42457994	60073398	94	1442											
TGM5	9333	broad.mit.edu	37	chr15	43552730	43552730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcctccgtgtggtgccGcacattatttctggagctct	10	12	3	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:43552730G>A	ENST00000220420.5	-	2	65	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	TGM5_ENST00000349114.4_Missense_Mutation_p.R20W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	20					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GTGTGGTGCCGCACATTATTT	0.587													False	0	False	15:43552730	0	A	43552730	G	A	43552730	3	1	18	1	0	0	0	0	1	0	0	0	15915	1086	38	1	2152	1	TGM5	15	43552730	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	1094736	43552730	58978662	95	1443											
MORF4L1	10933	broad.mit.edu	37	chr15	79186408	79186408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatttatcagggagtatgCggttaatgaagttgtggcag	13	4	2	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:79186408C>T	ENST00000331268.5	+	11	959	c.755C>T	c.(754-756)gCg>gTg	p.A252V	MORF4L1_ENST00000379535.4_Missense_Mutation_p.A238V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A213V|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558746.1_Missense_Mutation_p.A186V|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.A125V	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	252	Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AGGGAGTATGCGGTTAATGAA	0.333													False	0	False	15:79186408	0	T	79186408	C	T	79186408	3	4	18	1	0	0	0	0	1	0	0	0	9773	768	27	1	797	1	MORF4L1	15	79186408	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	35633678	79186408	23344984	96	1444											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84705713	84705713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaaccaatttcctggcGgcactgtcttgggccctcct	9	13	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:84705713G>A	ENST00000286744.5	+	29	5167	c.4943G>A	c.(4942-4944)cGg>cAg	p.R1648Q	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1648Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1648						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTTCCTGGCGGCACTGTCTT	0.527													False	0	False	15:84705713	0	A	84705713	G	A	84705713	3	1	18	1	0	0	0	0	1	0	0	0	276	1116	39	1	5053	1	ADAMTSL3	15	84705713	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	5519305	84705713	17825679	97	1445											
DNASE1	1773	broad.mit.edu	37	chr16	3706107	3706107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcttcaatccagggatGcaccagacacctatcactac	6	13	3	1	rs140530129	by1000genomes	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:3706107G>A	ENST00000246949.5	+	4	3450	c.241G>A	c.(241-243)Gca>Aca	p.A81T	DNASE1_ENST00000414110.2_Start_Codon_SNP_p.M1I|DNASE1_ENST00000407479.1_Missense_Mutation_p.A81T	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	81					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	ATCCAGGGATGCACCAGACAC	0.597													False	0	False	16:3706107	0	A	3706107	G	A	3706107	3	1	18	1	0	0	0	0	1	0	0	0	4690	1319	46	2	251	2	DNASE1	16	3706107	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		3706107	86648646	98	1446											
ABAT	18	broad.mit.edu	37	chr16	8858595	8858595	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctatttccctccccacagGtggctcccaaagggatgtcc	10	15	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:8858595G>T	ENST00000396600.2	+	8	1386	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	ABAT_ENST00000268251.8_Splice_Site_p.V150L|ABAT_ENST00000567812.1_Splice_Site_p.V165L|ABAT_ENST00000425191.2_Splice_Site_p.V150L|ABAT_ENST00000569156.1_Splice_Site_p.V150L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	150					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CTCCCCACAGGTGGCTCCCAA	0.597													False	0	False	16:8858595	0	T	8858595	G	T	8858595	5	4	18	1	0	0	0	0	0	0	1	0	27	1275	44	3	474	3	ABAT	16	8858595	Splice_Site	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	5152488	8858595	81496158	99	1447											
DNAH3	55567	broad.mit.edu	37	chr16	21080832	21080832	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctctgaactgaagatTggttccaggtacagccaggt	11	9	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:21080832T>A	ENST00000261383.3	-	23	3284	c.3285A>T	c.(3283-3285)ccA>ccT	p.P1095P	DNAH3_ENST00000415178.1_Silent_p.P1095P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1095	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AACTGAAGATTGGTTCCAGGT	0.433													False	0	False	16:21080832	0	A	21080832	T	A	21080832	2	1	18	1	0	0	0	0	0	0	0	1	4633	1799	63	5		5	DNAH3	16	21080832	Silent	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	12222237	21080832	69273921	100	1448											
SETD1A	9739	broad.mit.edu	37	chr16	30977566	30977567	+	Frame_Shift_Del	DEL	AG	AG	-													ggcaagaccctcccgacagcAggcaccgtgggccgtgtgct							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:30977566_30977567delAG	ENST00000262519.8	+	8	3050_3051	c.2364_2365delAG	c.(2362-2367)gcaggcfs	p.G789fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	789					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCCGACAGCAGGCACCGTGGG	0.658													False	1	False	16:30977566	0	-	30977567	AG	-	30977566	7	5	18	1	0	1	0	1	0	0	0	0	14211	175	7	0	2390	0	SETD1A	16	30977566	Frame_Shift_Del	DEL	AG	TCGA-2L-AAQJ-01A-12D-A397-08	9896734	30977566	59377187	101	1449											
PRSS36	146547	broad.mit.edu	37	chr16	31152793	31152793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacgagtgagacccacctgAggacacagtgagtggctgcc	14	11	0	4			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:31152793A>G	ENST00000268281.4	-	12	1956	c.1898T>C	c.(1897-1899)cTc>cCc	p.L633P	PRSS36_ENST00000569305.1_Missense_Mutation_p.L628P|PRSS36_ENST00000418068.2_Missense_Mutation_p.L633P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	633	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GACCCACCTGAGGACACAGTG	0.547													False	0	False	16:31152793	0	G	31152793	A	G	31152793	3	3	18	1	0	0	0	0	1	0	0	0	12701	304	11	4	685	4	PRSS36	16	31152793	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	175227	31152793	59201960	102	1450											
ZNF423	23090	broad.mit.edu	37	chr16	49671084	49671084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggggcacgcttgcttcCgcagcagcagctccaggtgc	14	14	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:49671084C>T	ENST00000561648.1	-	4	2032	c.1979G>A	c.(1978-1980)cGg>cAg	p.R660Q	ZNF423_ENST00000567169.1_Missense_Mutation_p.R543Q|ZNF423_ENST00000563137.2_Missense_Mutation_p.R600Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.R543Q|ZNF423_ENST00000262383.2_Missense_Mutation_p.R660Q|ZNF423_ENST00000562520.1_Missense_Mutation_p.R600Q|ZNF423_ENST00000562871.1_Missense_Mutation_p.R600Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	660					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGCTTGCTTCCGCAGCAGCAG	0.552													False	0	True	16:49671084	0	T	49671084	C	T	49671084	3	4	18	1	0	0	0	0	1	0	0	0	17981	652	23	1	1895	1	ZNF423	16	49671084	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	18518291	49671084	40683669	103	1451											
TP53	7157	broad.mit.edu	37	chr17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacctcaaagctgttccgtCccagtagattaccactactc	6	15	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:7577141C>T	ENST00000420246.2	-	8	929	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCTGTTCCGTCCCAGTAGATT	0.517		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)			False	0	True	17:7577141	0	T	7577141	C	T	7577141	3	4	18	1	0	0	0	0	1	0	0	0	16464	855	30	2	489	2	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		7577141	73618069	104	1452											
PIK3R5	23533	broad.mit.edu	37	chr17	8791989	8791989	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aggaagtcagcagatggcgcGagagggccggccccgaggcc	18	12	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:8791989G>C	ENST00000447110.1	-	10	1239	c.1115C>G	c.(1114-1116)tCg>tGg	p.S372W	PIK3R5_ENST00000584803.1_Missense_Mutation_p.S372W|PIK3R5_ENST00000581552.1_Missense_Mutation_p.S372W	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	372					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CAGATGGCGCGAGAGGGCCGG	0.632													False	0	False	17:8791989	0	C	8791989	G	C	8791989	3	2	18	1	0	0	0	0	1	0	0	0	11991	1059	37	5	1567	5	PIK3R5	17	8791989	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	1214848	8791989	72403221	105	1453											
GAS7	8522	broad.mit.edu	37	chr17	9923188	9923189	+	Frame_Shift_Ins	INS	-	-	A													ccgtctggctttcttctcccINSggcggaggggggaccattcc							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:9923188_9923189insA	ENST00000323816.4	-	3	191_192	c.17_18insT	c.(16-18)ccgfs	p.P6fs	GAS7_ENST00000579158.1_Frame_Shift_Ins_p.P22fs|GAS7_ENST00000540214.1_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000432992.2_Frame_Shift_Ins_p.P70fs|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000585266.1_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000437099.2_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000396115.1_Frame_Shift_Ins_p.P10fs|GAS7_ENST00000542249.1_Frame_Shift_Ins_p.P15fs			O60861	GAS7_HUMAN	growth arrest-specific 7	70	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TTTCTTCTCCCGGCGGAGGGGG	0.54			T	MLL	AML*								False	0	True	17:9923188	0	A	9923189	-	A	9923188	7	5	18	1	0	1	1	0	0	0	0	0	6293	639	23	0	1323	0	GAS7	17	9923188	Frame_Shift_Ins	INS	-	TCGA-2L-AAQJ-01A-12D-A397-08	1131199	9923188	71272022	106	1454											
MYO15A	51168	broad.mit.edu	37	chr17	18043920	18043920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcactcggctctacaaggcGcacactgtggccgccaagtt	11	14	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:18043920G>A	ENST00000205890.5	+	20	5639	c.5301G>A	c.(5299-5301)gcG>gcA	p.A1767A	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1767	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCTACAAGGCGCACACTGTGG	0.662											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:18043920	0	A	18043920	G	A	18043920	2	1	18	1	0	0	0	0	0	0	0	1	10130	1074	38	1		1	MYO15A	17	18043920	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	8120732	18043920	63151290	107	1455											
TIAF1	9220	broad.mit.edu	37	chr17	27401145	27401145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcttaagaacctggacccGgctctcctcaccagcgtctc	7	16	4	1	rs151013388		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:27401145G>A	ENST00000359450.6	-	1	4730	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	TIAF1_ENST00000408971.2_Missense_Mutation_p.R25W|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000354329.4_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	25					anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACCTGGACCCGGCTCTCCTCA	0.592													False	0	True	17:27401145	0	A	27401145	G	A	27401145	3	1	18	1	0	0	0	0	1	0	0	0	15970	1115	39	1	278	1	TIAF1	17	27401145	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	9357225	27401145	53794065	108	1456											
AP2B1	163	broad.mit.edu	37	chr17	33954713	33954713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgttcgaaaagctgtgCgggccattggacggtgtgcc	14	9	0	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:33954713C>T	ENST00000262325.7	+	9	1676	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	AP2B1_ENST00000589344.1_Missense_Mutation_p.R375W|AP2B1_ENST00000312678.8_Missense_Mutation_p.R375W|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.R337W|AP2B1_ENST00000538556.1_Missense_Mutation_p.R318W|AP2B1_ENST00000537622.2_Missense_Mutation_p.R375W	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	375					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AAAAGCTGTGCGGGCCATTGG	0.438													False	0	True	17:33954713	0	T	33954713	C	T	33954713	3	4	18	1	0	0	0	0	1	0	0	0	743	759	27	1	1153	1	AP2B1	17	33954713	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	6553568	33954713	47240497	109	1457											
BECN1	8678	broad.mit.edu	37	chr17	40967986	40967986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttatccagctgcgtctggGcataacgcatctggttttca	10	11	3	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:40967986G>A	ENST00000361523.4	-	8	902	c.770C>T	c.(769-771)gCc>gTc	p.A257V	BECN1_ENST00000438274.3_Missense_Mutation_p.A181V|BECN1_ENST00000590099.1_Missense_Mutation_p.A257V	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	257					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTGCGTCTGGGCATAACGCAT	0.463													False	0	True	17:40967986	0	A	40967986	G	A	40967986	3	1	18	1	0	0	0	0	1	0	0	0	1400	1203	42	2	602	2	BECN1	17	40967986	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	7013273	40967986	40227224	110	1458											
AMZ2	51321	broad.mit.edu	37	chr17	66253070	66253070	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcctttaaggaatggaAagagtggataataaaatgcc	12	4	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:66253070A>C	ENST00000359904.3	+	7	2175	c.1043A>C	c.(1042-1044)aAa>aCa	p.K348T	AMZ2_ENST00000577866.1_Missense_Mutation_p.K348T|AMZ2_ENST00000577273.1_3'UTR|AMZ2_ENST00000577985.1_Missense_Mutation_p.K348T|AMZ2_ENST00000359783.4_Missense_Mutation_p.K290T|AMZ2_ENST00000392720.2_Missense_Mutation_p.K348T|AMZ2_ENST00000580753.1_Missense_Mutation_p.K348T	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	348							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGGAATGGAAAGAGTGGATA	0.398													False	0	True	17:66253070	0	C	66253070	A	C	66253070	3	2	18	1	0	0	0	0	1	0	0	0	597	14	1	4	1065	4	AMZ2	17	66253070	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	25285084	66253070	14942140	111	1459											
GPR142	350383	broad.mit.edu	37	chr17	72363648	72363648	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcccagcgttgttagcaatgAgtattatgatgttgcccatg	10	8	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:72363648A>T	ENST00000335666.4	+	1	52	c.4A>T	c.(4-6)Agt>Tgt	p.S2C		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	2						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GTTAGCAATGAGTATTATGAT	0.527													False	0	False	17:72363648	0	T	72363648	A	T	72363648	3	4	18	1	0	0	0	0	1	0	0	0	6696	304	11	5	6	5	GPR142	17	72363648	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	6110578	72363648	8831562	112	1460											
AFMID	125061	broad.mit.edu	37	chr17	76187132	76187132	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggacctactcacagataGgaattgaaggtactagtgtg	12	6	1	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:76187132G>T	ENST00000409257.5	+	2	199	c.145G>T	c.(145-147)Gga>Tga	p.G49*	AFMID_ENST00000589256.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000588800.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000586731.1_Nonsense_Mutation_p.G32*|AFMID_ENST00000591952.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000327898.5_Nonsense_Mutation_p.G49*	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	49						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CTCACAGATAGGAATTGAAGG	0.557													False	0	False	17:76187132	0	T	76187132	G	T	76187132	4	4	18	1	0	0	0	0	0	1	0	0	362	1001	35	3	151	3	AFMID	17	76187132	Nonsense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	3823484	76187132	5008078	113	1461											
DLGAP1	9229	broad.mit.edu	37	chr18	3879329	3879329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccgggaggccttcaccGcctgctcgctgatggtgttg	14	13	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr18:3879329G>A	ENST00000315677.3	-	4	1335	c.740C>T	c.(739-741)gCg>gTg	p.A247V	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A247V|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A247V|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A247V	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	247					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGCCTTCACCGCCTGCTCGCT	0.657													False	0	False	18:3879329	0	A	3879329	G	A	3879329	3	1	18	1	0	0	0	0	1	0	0	0	4589	1087	38	1	2288	1	DLGAP1	18	3879329	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		3879329	74197919	114	1462											
SETBP1	26040	broad.mit.edu	37	chr18	42530405	42530405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatttgacaatacagaagGgaaaagggaaggttattccg	12	5	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr18:42530405G>A	ENST00000282030.5	+	4	1396	c.1100G>A	c.(1099-1101)gGg>gAg	p.G367E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	367						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AATACAGAAGGGAAAAGGGAA	0.448									Schinzel-Giedion syndrome				False	0	True	18:42530405	0	A	42530405	G	A	42530405	3	1	18	1	0	0	0	0	1	0	0	0	14210	1232	43	2	1303	2	SETBP1	18	42530405	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	38651076	42530405	35546843	115	1463											
MBD2	8932	broad.mit.edu	37	chr18	51691000	51691000	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagacttgccctgtgattggCgcagagcttgtgtgcaaagc	14	9	0	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr18:51691000C>A	ENST00000256429.3	-	5	1230	c.1002G>T	c.(1000-1002)gcG>gcT	p.A334A		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	334					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CTGTGATTGGCGCAGAGCTTG	0.473													False	0	False	18:51691000	0	A	51691000	C	A	51691000	2	1	18	1	0	0	0	0	0	0	0	1	9410	755	27	3		3	MBD2	18	51691000	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	9160595	51691000	26386248	116	1464											
PTPRS	5802	broad.mit.edu	37	chr19	5244288	5244288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccgacacccagatctcGtactccgagttggggctcag	12	14	2	1	rs144956737		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:5244288G>A	ENST00000372412.4	-	11	1430	c.1197C>T	c.(1195-1197)taC>taT	p.Y399Y	PTPRS_ENST00000592099.1_Silent_p.Y385Y|PTPRS_ENST00000348075.2_Silent_p.Y385Y|PTPRS_ENST00000353284.2_Silent_p.Y385Y|PTPRS_ENST00000357368.4_Silent_p.Y398Y|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.Y394Y|PTPRS_ENST00000588012.1_Silent_p.Y385Y|PTPRS_ENST00000587303.1_Silent_p.Y398Y			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	398	Fibronectin type-III 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCCAGATCTCGTACTCCGAGT	0.637													False	0	False	19:5244288	0	A	5244288	G	A	5244288	2	1	18	1	0	0	0	0	0	0	0	1	12890	1140	40	1		1	PTPRS	19	5244288	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		5244288	53884695	117	1465											
ZNF358	140467	broad.mit.edu	37	chr19	7584999	7584999	+	Frame_Shift_Del	DEL	T	T	-													cgcacacgggcgagcggcccTacccgtgtccgcagtgcggc							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:7584999delT	ENST00000597229.1	+	2	1041	c.871delT	c.(871-873)tacfs	p.Y291fs	ZNF358_ENST00000394341.2_Frame_Shift_Del_p.Y291fs|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	291					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CGAGCGGCCCTACCCGTGTCC	0.741													False	1	True	19:7584999	0	-	7584999	T	-	7584999	7	5	18	1	0	1	0	1	0	0	0	0	17950	1522	53	0	873	0	ZNF358	19	7584999	Frame_Shift_Del	DEL	T	TCGA-2L-AAQJ-01A-12D-A397-08	2340711	7584999	51543984	118	1466											
AKAP8L	26993	broad.mit.edu	37	chr19	15512085	15512085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcatgccctggaacatgCcgtactcggggatgatgttc	12	12	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:15512085C>T	ENST00000397410.5	-	5	822	c.692G>A	c.(691-693)gGc>gAc	p.G231D	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Missense_Mutation_p.G170D	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTGGAACATGCCGTACTCGGG	0.657													False	0	False	19:15512085	0	T	15512085	C	T	15512085	3	4	18	1	0	0	0	0	1	0	0	0	458	739	26	2	1288	2	AKAP8L	19	15512085	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	7927086	15512085	43616898	119	1467											
GPI	2821	broad.mit.edu	37	chr19	34884838	34884838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccagcacttccgcacgaCgcccctggagaagaacgccc	11	17	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:34884838C>T	ENST00000415930.3	+	12	1132	c.962C>T	c.(961-963)aCg>aTg	p.T321M	GPI_ENST00000356487.5_Missense_Mutation_p.T310M|GPI_ENST00000586425.1_Missense_Mutation_p.T310M	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	310					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTCCGCACGACGCCCCTGGAG	0.627													False	0	False	19:34884838	0	T	34884838	C	T	34884838	3	4	18	1	0	0	0	0	1	0	0	0	6657	536	19	1	1096	1	GPI	19	34884838	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	19372753	34884838	24244145	120	1468											
HPN	3249	broad.mit.edu	37	chr19	35556925	35556925	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acttccgggagtggatcttcCaggccataaaggtgaaagtt	12	8	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:35556925C>G	ENST00000262626.2	+	12	2029	c.1204C>G	c.(1204-1206)Cag>Gag	p.Q402E	HPN_ENST00000392226.1_Missense_Mutation_p.Q402E|HPN_ENST00000597419.1_Missense_Mutation_p.Q244E|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	402	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GTGGATCTTCCAGGCCATAAA	0.562													False	0	False	19:35556925	0	G	35556925	C	G	35556925	3	3	18	1	0	0	0	0	1	0	0	0	7383	595	21	5	1246	5	HPN	19	35556925	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	672087	35556925	23572058	121	1469											
PLEKHG2	64857	broad.mit.edu	37	chr19	39914871	39914871	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgttctgatttcacagtttCagtcaccacccctgtgccca	6	14	4	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:39914871C>G	ENST00000425673.1	+	17	3336	c.3011C>G	c.(3010-3012)tCa>tGa	p.S1004*	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000409794.3_Nonsense_Mutation_p.S1033*|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.S974*			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1033					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCACAGTTTCAGTCACCACC	0.547													False	0	True	19:39914871	0	G	39914871	C	G	39914871	4	3	18	1	0	0	0	0	0	1	0	0	12138	838	29	5	3168	5	PLEKHG2	19	39914871	Nonsense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	4357946	39914871	19214112	122	1470											
PSG6	5675	broad.mit.edu	37	chr19	43411814	43411814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtcctgtttcatttctcGtgacactgggtagaatgagt	12	7	2	3			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:43411814G>A	ENST00000187910.2	-	4	964	c.899C>T	c.(898-900)aCg>aTg	p.T300M	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.T300M	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTCATTTCTCGTGACACTGGG	0.488													False	0	False	19:43411814	0	A	43411814	G	A	43411814	3	1	18	1	0	0	0	0	1	0	0	0	12735	1145	40	1	459	1	PSG6	19	43411814	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	3496943	43411814	15717169	123	1471											
FPR2	2358	broad.mit.edu	37	chr19	52272706	52272706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttgcccttctgggcacCgtctggctcaaagagatgtt	12	11	3	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:52272706C>T	ENST00000598776.1	+	2	1567	c.795C>T	c.(793-795)acC>acT	p.T265T	FPR2_ENST00000598953.1_Silent_p.T265T|FPR2_ENST00000340023.6_Silent_p.T265T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	265					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTCTGGGCACCGTCTGGCTCA	0.502													False	0	False	19:52272706	0	T	52272706	C	T	52272706	2	4	18	1	0	0	0	0	0	0	0	1	6081	639	23	1		1	FPR2	19	52272706	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	8860892	52272706	6856277	124	1472											
ZNF835	90485	broad.mit.edu	37	chr19	57175831	57175831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactcgtagggcttctcacCggtgtggatgcgctggtgct	15	11	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:57175831C>T	ENST00000537055.2	-	2	967	c.736G>A	c.(736-738)Ggt>Agt	p.G246S		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGCTTCTCACCGGTGTGGATG	0.692													False	0	False	19:57175831	0	T	57175831	C	T	57175831	3	4	18	1	0	0	0	0	1	0	0	0	18268	652	23	1	879	1	ZNF835	19	57175831	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	4903125	57175831	1953152	125	1473											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673686	3673686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctgagggccagctgggCgggcgggcggctgtccacag	21	11	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:3673686C>T	ENST00000344754.4	-	14	3600	c.3601G>A	c.(3601-3603)Gcc>Acc	p.A1201T	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1201T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1201	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCCAGCTGGGCGGGCGGGCGG	0.721													False	0	True	20:3673686	0	T	3673686	C	T	3673686	3	4	18	1	0	0	0	0	1	0	0	0	14386	768	27	1	1560	1	SIGLEC1	20	3673686	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		3673686	59351834	126	1474											
PAX1	5075	broad.mit.edu	37	chr20	21687445	21687445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggtgagctccatcagccGcatcctgcgcaacaagatcg	10	14	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:21687445G>A	ENST00000398485.2	+	2	710	c.656G>A	c.(655-657)cGc>cAc	p.R219H	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.R195H	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	219	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.R125L(1)|p.R219L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TCCATCAGCCGCATCCTGCGC	0.632													False	0	False	20:21687445	0	A	21687445	G	A	21687445	3	1	18	1	0	0	0	0	1	0	0	0	11546	1087	38	1	662	1	PAX1	20	21687445	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	18013759	21687445	41338075	127	1475											
RBM12	10137	broad.mit.edu	37	chr20	34240896	34240896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagggccccctccaaatccCgatggcccacttaaattgtt	8	14	0	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:34240896C>T	ENST00000374114.3	-	3	2612	c.2349G>A	c.(2347-2349)tcG>tcA	p.S783S	CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Silent_p.S783S|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Silent_p.S783S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	783	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTCCAAATCCCGATGGCCCAC	0.562													False	0	True	20:34240896	0	T	34240896	C	T	34240896	2	4	18	1	0	0	0	0	0	0	0	1	13192	639	23	1		1	RBM12	20	34240896	Silent	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	12553451	34240896	28784624	128	1476											
RALGAPB	57148	broad.mit.edu	37	chr20	37186991	37186996	+	In_Frame_Del	DEL	ACCTGG	ACCTGG	-													attgcacttgattccacgatAcctggattttttgatgacat							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	ACCTGG	ACCTGG	-	-	ACCTGG	ACCTGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:37186991_37186996delACCTGG	ENST00000262879.6	+	23	3710_3715	c.3426_3431delACCTGG	c.(3424-3432)atacctgga>ata	p.PG1143del	RALGAPB_ENST00000397040.1_In_Frame_Del_p.PG1143del|RALGAPB_ENST00000397038.1_In_Frame_Del_p.PG921del|RALGAPB_ENST00000397042.3_In_Frame_Del_p.PG1139del			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1143					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATTCCACGATACCTGGATTTTTTGAT	0.398													False	1	False	20:37186991	0	-	37186996	ACCTGG	-	37186991	7	5	18	1	0	1	0	1	0	0	0	0	13094	381	14	0	3512	0	RALGAPB	20	37186991	In_Frame_Del	DEL	ACCTGG	TCGA-2L-AAQJ-01A-12D-A397-08	2946095	37186991	25838529	129	1477											
DIDO1	11083	broad.mit.edu	37	chr20	61512959	61512959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagttccttctcacgtcgGcacacatcctgttgggcagg	12	13	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:61512959G>A	ENST00000266070.4	-	16	4674	c.4349C>T	c.(4348-4350)gCc>gTc	p.A1450V	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1450V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1450					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTCACGTCGGCACACATCCT	0.607													False	0	True	20:61512959	0	A	61512959	G	A	61512959	3	1	18	1	0	0	0	0	1	0	0	0	4552	1203	42	2	2377	2	DIDO1	20	61512959	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	24325968	61512959	1512561	130	1478											
BAGE2	85319	broad.mit.edu	37	chr21	11098773	11098773	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcctaccgctcaggccGccctcctaacactccagctg	6	21	1	0	rs77771067		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr21:11098773G>A	ENST00000470054.1	-	0	152									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		cgctcaggccgccctcctaac	0.627													False	0	True	21:11098773	0	A	11098773	G	A	11098773	1	1	18	0	1	0	0	0	0	0	0	0	1296	1102	38	1		1	BAGE2	21	11098773	RNA	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08		11098773	37031122	131	1479											
ADARB1	104	broad.mit.edu	37	chr21	46596475	46596475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagaagcttgccaaggccCgggctgcgcagtctgccctg	13	14	1	1	rs142476560		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr21:46596475C>T	ENST00000539173.1	+	4	1294	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000348831.4_Missense_Mutation_p.R287W|ADARB1_ENST00000389863.4_Missense_Mutation_p.R287W|ADARB1_ENST00000360697.3_Missense_Mutation_p.R287W	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	287	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TGCCAAGGCCCGGGCTGCGCA	0.572													False	0	True	21:46596475	0	T	46596475	C	T	46596475	3	4	18	1	0	0	0	0	1	0	0	0	282	643	23	1	865	1	ADARB1	21	46596475	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	35497702	46596475	1533420	132	1480											
CECR2	27443	broad.mit.edu	37	chr22	18021889	18021889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggacccaggctaggcaCaccagaggagaagcaaatgt	13	11	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:18021889C>T	ENST00000400573.5	+	16	1998	c.1991C>T	c.(1990-1992)aCa>aTa	p.T664I	CECR2_ENST00000262608.8_Missense_Mutation_p.T665I|CECR2_ENST00000400585.2_Missense_Mutation_p.T523I			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGGCTAGGCACACCAGAGGAG	0.547													False	0	False	22:18021889	0	T	18021889	C	T	18021889	3	4	18	1	0	0	0	0	1	0	0	0	3229	478	17	2	2051	2	CECR2	22	18021889	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08		18021889	33282677	133	1481											
DGCR8	54487	broad.mit.edu	37	chr22	20077537	20077538	+	Frame_Shift_Del	DEL	TT	TT	-													agtagcatcccttgtctgcaTtataagaaaatgaaggacaa							TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:20077537_20077538delTT	ENST00000351989.3	+	5	1491_1492	c.1062_1063delTT	c.(1060-1065)cattatfs	p.HY354fs	DGCR8_ENST00000383024.2_Frame_Shift_Del_p.HY354fs|DGCR8_ENST00000407755.1_Frame_Shift_Del_p.HY354fs	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	354	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CTTGTCTGCATTATAAGAAAAT	0.505													False	2	False	22:20077537	0	-	20077538	TT	-	20077537	7	5	18	1	0	1	0	1	0	0	0	0	4494	1490	52	0	1076	0	DGCR8	22	20077537	Frame_Shift_Del	DEL	TT	TCGA-2L-AAQJ-01A-12D-A397-08	2055648	20077537	31227029	134	1482											
TMPRSS6	164656	broad.mit.edu	37	chr22	37471275	37471275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccggccgtggccaccacGgggatcctctcggcgtaggg	15	15	1	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:37471275G>A	ENST00000381792.2	-	11	1382	c.1242C>T	c.(1240-1242)ccC>ccT	p.P414P	TMPRSS6_ENST00000406725.1_Silent_p.P414P|TMPRSS6_ENST00000406856.1_Silent_p.P414P|TMPRSS6_ENST00000346753.3_Silent_p.P423P			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	423	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGGCCACCACGGGGATCCTCT	0.657													False	0	True	22:37471275	0	A	37471275	G	A	37471275	2	1	18	1	0	0	0	0	0	0	0	1	16333	1103	39	1		1	TMPRSS6	22	37471275	Silent	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	17393738	37471275	13833291	135	1483											
NR0B1	190	broad.mit.edu	37	chrX	30326930	30326930	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcctggtagcgcctctTtaccccctggcctctgcgcg	11	19	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:30326930T>G	ENST00000378970.4	-	1	785	c.551A>C	c.(550-552)aAa>aCa	p.K184T	NR0B1_ENST00000453287.1_Missense_Mutation_p.K184T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	184	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TAGCGCCTCTTTACCCCCTGG	0.692											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	X:30326930	0	G	30326930	T	G	30326930	3	3	18	1	0	0	0	0	1	0	0	0	10681	1841	64	4	869	4	NR0B1	23	30326930	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08		30326930	124943630	136	1484											
NR0B1	190	broad.mit.edu	37	chrX	30327066	30327066	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgccctgccgcgggtGgtcttcaccacaaaagcagc	12	14	2	0			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:30327066G>C	ENST00000378970.4	-	1	649	c.415C>G	c.(415-417)Cac>Gac	p.H139D	NR0B1_ENST00000453287.1_Missense_Mutation_p.H139D	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	139	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGCCGCGGGTGGTCTTCACCA	0.692											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	X:30327066	0	C	30327066	G	C	30327066	3	2	18	1	0	0	0	0	1	0	0	0	10681	1348	47	5	1005	5	NR0B1	23	30327066	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	136	30327066	124943494	137	1485											
FAM47A	158724	broad.mit.edu	37	chrX	34148936	34148936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagtggagactggacctcCgacgtgtcttgggatgttcc	15	10	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:34148936C>T	ENST00000346193.3	-	1	1511	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	487								p.R487Q(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTGGACCTCCGACGTGTCTT	0.642													False	0	False	X:34148936	0	T	34148936	C	T	34148936	3	4	18	1	0	0	0	0	1	0	0	0	5609	652	23	1	919	1	FAM47A	23	34148936	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	3821870	34148936	121121624	138	1486											
MED14	9282	broad.mit.edu	37	chrX	40526067	40526067	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgctggtgatggggctctcAaagccccactgggggagctg	16	11	1	1			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:40526067A>C	ENST00000324817.1	-	24	3288	c.3170T>G	c.(3169-3171)tTg>tGg	p.L1057W		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1057	Pro-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGGCTCTCAAAGCCCCACT	0.493													False	0	True	X:40526067	0	C	40526067	A	C	40526067	3	2	18	1	0	0	0	0	1	0	0	0	9499	131	5	4	1226	4	MED14	23	40526067	Missense_Mutation	SNP	A	TCGA-2L-AAQJ-01A-12D-A397-08	6377131	40526067	114744493	139	1487											
KCND1	3750	broad.mit.edu	37	chrX	48819916	48819916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagttcctgagggtgctgcCggccctgccaccgccgccag	15	16	0	1	rs145016539		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:48819916C>T	ENST00000218176.3	-	6	3167	c.1870G>A	c.(1870-1872)Ggc>Agc	p.G624S	KCND1_ENST00000376477.1_Missense_Mutation_p.G247S	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	624						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						AGGGTGCTGCCGGCCCTGCCA	0.632													False	0	False	X:48819916	0	T	48819916	C	T	48819916	3	4	18	1	0	0	0	0	1	0	0	0	8068	652	23	1	77	1	KCND1	23	48819916	Missense_Mutation	SNP	C	TCGA-2L-AAQJ-01A-12D-A397-08	8293849	48819916	106450644	140	1488											
HDX	139324	broad.mit.edu	37	chrX	83724365	83724365	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtctgtatgtttgttTgttccttgcctacttgatga	10	6	1	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:83724365T>A	ENST00000297977.5	-	3	477	c.366A>T	c.(364-366)acA>acT	p.T122T	HDX_ENST00000373177.2_Silent_p.T122T|HDX_ENST00000506585.2_Silent_p.T64T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	122						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TATGTTTGTTTGTTCCTTGCC	0.403													False	0	True	X:83724365	0	A	83724365	T	A	83724365	2	1	18	1	0	0	0	0	0	0	0	1	7073	1799	63	5		5	HDX	23	83724365	Silent	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	34904449	83724365	71546195	141	1489											
VSIG1	340547	broad.mit.edu	37	chrX	107316507	107316507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccgggattttggtcattgGaaatctgacaaattttgaac	9	7	2	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:107316507G>A	ENST00000415430.3	+	6	865	c.704G>A	c.(703-705)gGa>gAa	p.G235E	VSIG1_ENST00000217957.5_Missense_Mutation_p.G199E	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	199						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TTGGTCATTGGAAATCTGACA	0.418													False	0	True	X:107316507	0	A	107316507	G	A	107316507	3	1	18	1	0	0	0	0	1	0	0	0	17306	1174	41	2	726	2	VSIG1	23	107316507	Missense_Mutation	SNP	G	TCGA-2L-AAQJ-01A-12D-A397-08	23592142	107316507	47954053	142	1490											
ARHGAP36	158763	broad.mit.edu	37	chrX	130218925	130218925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggtctggatgtagtgcTggatgacaatcagaatgtgc	13	6	3	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:130218925T>C	ENST00000276211.5	+	7	1187	c.842T>C	c.(841-843)cTg>cCg	p.L281P	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L145P|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L269P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	281	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GATGTAGTGCTGGATGACAAT	0.488													False	0	False	X:130218925	0	C	130218925	T	C	130218925	3	2	18	1	0	0	0	0	1	0	0	0	885	1580	55	4	864	4	ARHGAP36	23	130218925	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	22902418	130218925	25051635	143	1491											
ARHGEF6	9459	broad.mit.edu	37	chrX	135789073	135789073	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttaactatttacctgtgcTgagtgagcacatttacagct	8	8	0	2			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:135789073T>A	ENST00000250617.6	-	9	2245	c.1040A>T	c.(1039-1041)cAg>cTg	p.Q347L	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q193L|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q220L|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q193L	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	347	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTACCTGTGCTGAGTGAGCAC	0.408													False	0	True	X:135789073	0	A	135789073	T	A	135789073	3	1	18	1	0	0	0	0	1	0	0	0	912	1580	55	5	1346	5	ARHGEF6	23	135789073	Missense_Mutation	SNP	T	TCGA-2L-AAQJ-01A-12D-A397-08	5570148	135789073	19481487	144	1492											
SLC2A7	155184	broad.mit.edu	37	chr1	9085071	9085071	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacagagaggttgtagccGtactggaaggctgagccaaa	13	9	0	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:9085071G>A	ENST00000400906.1	-	2	113	c.114C>T	c.(112-114)taC>taT	p.Y38Y		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	38						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGTTGTAGCCGTACTGGAAGG	0.647													False	0	False	1:9085071	0	A	9085071	G	A	9085071	2	1	19	1	0	0	0	0	0	0	0	1	14630	1140	40	1		1	SLC2A7	1	9085071	Silent	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08		9085071	240165550	1	1493											
CLCN6	1185	broad.mit.edu	37	chr1	11897102	11897102	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagcagcgcaaacggagccAgtccatgaagtcctacccat	10	14	0	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:11897102A>G	ENST00000346436.6	+	19	2079	c.2027A>G	c.(2026-2028)cAg>cGg	p.Q676R	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.Q654R|CLCN6_ENST00000376496.3_Missense_Mutation_p.Q676R	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	676					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAACGGAGCCAGTCCATGAAG	0.602													False	0	False	1:11897102	0	G	11897102	A	G	11897102	3	3	19	1	0	0	0	0	1	0	0	0	3490	188	7	4	2111	4	CLCN6	1	11897102	Missense_Mutation	SNP	A	TCGA-2L-AAQL-01A-11D-A38G-08	2812031	11897102	237353519	2	1494											
LEPR	3953	broad.mit.edu	37	chr1	66102532	66102532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagccccctgtttattcaCggacatcagagttctccagg	8	15	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:66102532C>T	ENST00000349533.6	+	20	3517	c.3332C>T	c.(3331-3333)aCg>aTg	p.T1111M	LEPR_ENST00000406510.3_Missense_Mutation_p.T178M	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1111					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTTTATTCACGGACATCAGA	0.418													False	0	False	1:66102532	0	T	66102532	C	T	66102532	3	4	19	1	0	0	0	0	1	0	0	0	8779	536	19	1	3632	1	LEPR	1	66102532	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	54205430	66102532	183148089	3	1495											
SGIP1	84251	broad.mit.edu	37	chr1	67147855	67147855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgcaatgtactatcgcCgctcaatttagaagaagtcc	7	12	1	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:67147855C>T	ENST00000371037.4	+	15	1195	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P377L|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	373	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTACTATCGCCGCTCAATTTA	0.542													False	0	False	1:67147855	0	T	67147855	C	T	67147855	3	4	19	1	0	0	0	0	1	0	0	0	14287	652	23	1	1176	1	SGIP1	1	67147855	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	1045323	67147855	182102766	4	1496											
S1PR1	1901	broad.mit.edu	37	chr1	101705012	101705012	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacaacgggagcaataacTtccgcctcttcctgctaatc	6	15	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:101705012T>G	ENST00000305352.6	+	2	847	c.472T>G	c.(472-474)Ttc>Gtc	p.F158V	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	158					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GAGCAATAACTTCCGCCTCTT	0.557											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:101705012	0	G	101705012	T	G	101705012	3	3	19	1	0	0	0	0	1	0	0	0	13872	1609	56	4	474	4	S1PR1	1	101705012	Missense_Mutation	SNP	T	TCGA-2L-AAQL-01A-11D-A38G-08	34557157	101705012	147545609	5	1497											
AMY2A	279	broad.mit.edu	37	chr1	104160198	104160198	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcttgaatgtgagcgaTatttagctccgaagggattt	11	6	1	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:104160198T>G	ENST00000414303.2	+	1	200	c.136T>G	c.(136-138)Tat>Gat	p.Y46D		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	46					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	ATGTGAGCGATATTTAGCTCC	0.423													False	0	False	1:104160198	0	G	104160198	T	G	104160198	3	3	19	1	0	0	0	0	1	0	0	0	594	1406	49	4	138	4	AMY2A	1	104160198	Missense_Mutation	SNP	T	TCGA-2L-AAQL-01A-11D-A38G-08	2455186	104160198	145090423	6	1498											
PYHIN1	149628	broad.mit.edu	37	chr1	158914733	158914733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccccaggaacagagtcaGcatccaaaaccttcagaggc	8	14	2	2	rs150828296		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:158914733G>A	ENST00000368140.1	+	7	1505	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	PYHIN1_ENST00000392252.3_Silent_p.Q411Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Silent_p.Q411Q|PYHIN1_ENST00000392254.2_Silent_p.Q420Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	420					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AACAGAGTCAGCATCCAAAAC	0.458													False	0	False	1:158914733	0	A	158914733	G	A	158914733	2	1	19	1	0	0	0	0	0	0	0	1	12944	962	34	2		2	PYHIN1	1	158914733	Silent	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	54754535	158914733	90335888	7	1499											
ADAMTS4	9507	broad.mit.edu	37	chr1	161166670	161166670	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactcagtgaagcaaagcGctgtagagaaaaagggagag	13	6	2	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:161166670G>A	ENST00000367996.5	-	2	1062	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	ADAMTS4_ENST00000367995.3_Splice_Site_p.R212C	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4						proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAAGCAAAGCGCTGTAGAGAA	0.527													False	0	False	1:161166670	0	A	161166670	G	A	161166670	5	1	19	1	0	0	0	0	0	0	1	0	268	1101	38	1	1911	1	ADAMTS4	1	161166670	Splice_Site	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	2251937	161166670	88083951	8	1500											
FMO3	2328	broad.mit.edu	37	chr1	171083214	171083214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtgtggcattgtgtccGtaaagcctaacgtgaaggaa	12	7	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:171083214G>A	ENST00000367755.4	+	7	1006	c.895G>A	c.(895-897)Gta>Ata	p.V299I	FMO3_ENST00000542847.1_Missense_Mutation_p.V279I|FMO3_ENST00000538429.1_Missense_Mutation_p.V236I|FMO3_ENST00000392085.2_Missense_Mutation_p.V299I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	299					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATTGTGTCCGTAAAGCCTAA	0.448													False	0	False	1:171083214	0	A	171083214	G	A	171083214	3	1	19	1	0	0	0	0	1	0	0	0	5996	1145	40	1	917	1	FMO3	1	171083214	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	9916544	171083214	78167407	9	1501											
TRIM67	440730	broad.mit.edu	37	chr1	231298879	231298879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcctgctttcccggggatCggggctgcaggcgggcgccg	18	14	0	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:231298879C>T	ENST00000444294.3	+	1	1022	c.164C>T	c.(163-165)tCg>tTg	p.S55L	TRIM67_ENST00000366653.5_Missense_Mutation_p.S55L|TRIM67_ENST00000366652.2_Missense_Mutation_p.S55L|TRIM67_ENST00000449018.3_Intron	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	55						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TCCCGGGGATCGGGGCTGCAG	0.741													False	0	True	1:231298879	0	T	231298879	C	T	231298879	3	4	19	1	0	0	0	0	1	0	0	0	16623	893	31	1	166	1	TRIM67	1	231298879	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	60215665	231298879	17951742	10	1502											
OR1C1	26188	broad.mit.edu	37	chr1	247920907	247920907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacagagtgtcgctctcagGcatatggggggatgaagggc	17	7	1	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:247920907G>T	ENST00000408896.2	-	1	1075	c.802C>A	c.(802-804)Cct>Act	p.P268T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCGCTCTCAGGCATATGGGGG	0.517													False	0	False	1:247920907	0	T	247920907	G	T	247920907	3	4	19	1	0	0	0	0	1	0	0	0	11020	1203	42	3	144	3	OR1C1	1	247920907	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	16622028	247920907	1329714	11	1503											
OR2T1	26696	broad.mit.edu	37	chr1	248569553	248569553	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcatctctatcatcttcttCaccgcactgatggccaatgg	6	13	6	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr1:248569553C>A	ENST00000366474.1	+	1	258	c.258C>A	c.(256-258)ttC>ttA	p.F86L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATCTTCTTCACCGCACTGA	0.443													False	0	False	1:248569553	0	A	248569553	C	A	248569553	3	1	19	1	0	0	0	0	1	0	0	0	11084	825	29	3	260	3	OR2T1	1	248569553	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	648646	248569553	681068	12	1504											
PUM2	23369	broad.mit.edu	37	chr2	20508209	20508209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccagattctgagtttcagGatttgaaaattcttcaacaa	6	7	4	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:20508209G>A	ENST00000361078.2	-	5	677	c.655C>T	c.(655-657)Cct>Tct	p.P219S	PUM2_ENST00000403432.1_Missense_Mutation_p.P219S|PUM2_ENST00000338086.5_Missense_Mutation_p.P219S|PUM2_ENST00000319801.5_Missense_Mutation_p.P219S|PUM2_ENST00000536417.1_Missense_Mutation_p.P163S|PUM2_ENST00000420234.1_5'UTR			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	219	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGTTTCAGGATTTGAAAAT	0.448													False	0	False	2:20508209	0	A	20508209	G	A	20508209	3	1	19	1	0	0	0	0	1	0	0	0	12905	1174	41	2	2603	2	PUM2	2	20508209	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08		20508209	222691164	13	1505											
ACTG2	72	broad.mit.edu	37	chr2	74146664	74146664	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagcaagcctgagtatgatGaggcagggccctccattgtc	12	11	1	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:74146664G>T	ENST00000409624.1	+	10	1736	c.1093G>T	c.(1093-1095)Gag>Tag	p.E365*	ACTG2_ENST00000409731.3_Nonsense_Mutation_p.E322*|ACTG2_ENST00000345517.3_Nonsense_Mutation_p.E365*			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	365					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						TGAGTATGATGAGGCAGGGCC	0.532													False	0	False	2:74146664	0	T	74146664	G	T	74146664	4	4	19	1	0	0	0	0	0	1	0	0	197	1291	45	3	1123	3	ACTG2	2	74146664	Nonsense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	53638455	74146664	169052709	14	1506											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	19	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-2L-AAQL-01A-11D-A38G-08	23700701	97847365	145352008	15	1507											
TTN	7273	broad.mit.edu	37	chr2	179455476	179455476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctgaacttcaggtcagCgataggtgttttgttgaccc	10	10	3	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:179455476C>T	ENST00000589042.1	-	304	61200	c.60976G>A	c.(60976-60978)Gct>Act	p.A20326T	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17758T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11261T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A18685T|TTN_ENST00000342175.6_Missense_Mutation_p.A11453T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11386T|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18685	Fibronectin type-III 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGGTCAGCGATAGGTGTT	0.443													False	0	False	2:179455476	0	T	179455476	C	T	179455476	3	4	19	1	0	0	0	0	1	0	0	0	16819	768	27	1	47239	1	TTN	2	179455476	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	81608111	179455476	63743897	16	1508											
ASNSD1	54529	broad.mit.edu	37	chr2	190535201	190535201	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgaaaatgttgtctcctttCtaaattctctgccgatttgg	7	8	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:190535201C>T	ENST00000260952.4	+	6	2094	c.1681C>T	c.(1681-1683)Cta>Tta	p.L561L	ASNSD1_ENST00000607062.1_Silent_p.L80L	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	561	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGTCTCCTTTCTAAATTCTCT	0.353													False	0	True	2:190535201	0	T	190535201	C	T	190535201	2	4	19	1	0	0	0	0	0	0	0	1	1053	912	32	2		2	ASNSD1	2	190535201	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	11079725	190535201	52664172	17	1509											
CTDSP1	58190	broad.mit.edu	37	chr2	219266400	219266400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgctcacagcggggcgCccctgcttgtggaggagaat	15	12	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr2:219266400C>T	ENST00000273062.2	+	2	517	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.P61S	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	61					protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCGGGGCGCCCCTGCTTGT	0.667													False	0	True	2:219266400	0	T	219266400	C	T	219266400	3	4	19	1	0	0	0	0	1	0	0	0	4028	739	26	2	187	2	CTDSP1	2	219266400	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	28731199	219266400	23932973	18	1510											
TGFBR2	7048	broad.mit.edu	37	chr3	30713755	30713758	+	Frame_Shift_Del	DEL	CCTC	CCTC	-													ctcgcccgggggattgctcaCctccacagtgatcacactcc							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	CCTC	CCTC	-	-	CCTC	CCTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:30713755_30713758delCCTC	ENST00000295754.5	+	4	1462_1465	c.1080_1083delCCTC	c.(1078-1083)cacctcfs	p.HL360fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.HL385fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	360	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGATTGCTCACCTCCACAGTGATC	0.608													False	1	False	3:30713755	0	-	30713758	CCTC	-	30713755	7	5	19	1	0	1	0	1	0	0	0	0	15904	506	18	0	1173	0	TGFBR2	3	30713755	Frame_Shift_Del	DEL	CCTC	TCGA-2L-AAQL-01A-11D-A38G-08		30713755	167308675	19	1511											
TTC21A	199223	broad.mit.edu	37	chr3	39177931	39177931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgccttctttgaattgGccaagaaggtgtctagccgg	11	10	2	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:39177931G>A	ENST00000301819.6	+	23	3229	c.3052G>A	c.(3052-3054)Gcc>Acc	p.A1018T	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.A969T|TTC21A_ENST00000431162.2_Missense_Mutation_p.A1017T	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1017							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTTTGAATTGGCCAAGAAGGT	0.438													False	0	False	3:39177931	0	A	39177931	G	A	39177931	3	1	19	1	0	0	0	0	1	0	0	0	16771	1203	42	2	3142	2	TTC21A	3	39177931	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	8464176	39177931	158844499	20	1512											
CELSR3	1951	broad.mit.edu	37	chr3	48696487	48696487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggtcataagctgggatgCgcccaataatgcccgacggg	15	11	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:48696487C>T	ENST00000544264.1	-	1	3861	c.3581G>A	c.(3580-3582)cGc>cAc	p.R1194H	CELSR3_ENST00000164024.4_Missense_Mutation_p.R1194H			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1194	Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCTGGGATGCGCCCAATAAT	0.537													False	0	False	3:48696487	0	T	48696487	C	T	48696487	3	4	19	1	0	0	0	0	1	0	0	0	3246	768	27	1	6497	1	CELSR3	3	48696487	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	9518556	48696487	149325943	21	1513											
DNAH1	25981	broad.mit.edu	37	chr3	52387151	52387151	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tccaggatggtgaaggagttCcaaccctacctggacctttg	11	11	0	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:52387151C>G	ENST00000420323.2	+	19	3321	c.3060C>G	c.(3058-3060)ttC>ttG	p.F1020L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1020	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAAGGAGTTCCAACCCTACC	0.602													False	0	False	3:52387151	0	G	52387151	C	G	52387151	3	3	19	1	0	0	0	0	1	0	0	0	4627	854	30	5	3130	5	DNAH1	3	52387151	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	3690664	52387151	145635279	22	1514											
NPHP3	27031	broad.mit.edu	37	chr3	132415576	132415576	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaataatcaccactcaccGcgcgatcattttgccgaaaa	5	12	3	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:132415576G>A	ENST00000337331.5	-	15	2256	c.2170C>T	c.(2170-2172)Cgt>Tgt	p.R724C	NPHP3_ENST00000326682.8_Intron	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	724					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCACTCACCGCGCGATCATT	0.458													False	0	True	3:132415576	0	A	132415576	G	A	132415576	5	1	19	1	0	0	0	0	0	0	1	0	10648	1101	38	1	1874	1	NPHP3	3	132415576	Splice_Site	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	80028425	132415576	65606854	23	1515											
HTR3E	285242	broad.mit.edu	37	chr3	183823996	183823997	+	Frame_Shift_Ins	INS	-	-	GTGATGAAGATGGTCT													cacccacctgctgcacgtggINSccaccacccagcccccaccc							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr3:183823996_183823997insGTGATGAAGATGGTCT	ENST00000415389.2	+	8	1472_1473	c.1006_1007insGTGATGAAGATGGTCT	c.(1006-1008)gccfs	p.A336fs	HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.A321fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.A351fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.A362fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.A336fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	336						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCTGCACGTGGCCACCACCCAG	0.653													False	0	False	3:183823996	0	GTGATGAAGATGGTCT	183823997	-	GTGATGAAGATGGTCT	183823996	7	5	19	1	0	1	1	0	0	0	0	0	7498	1203	42	0	1077	0	HTR3E	3	183823996	Frame_Shift_Ins	INS	-	TCGA-2L-AAQL-01A-11D-A38G-08	51408420	183823996	14198434	24	1516											
ANAPC4	29945	broad.mit.edu	37	chr4	25395511	25395511	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtctcaccaagtttgtgCaggtaaagcagctgaagttt	10	9	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:25395511C>T	ENST00000315368.3	+	11	1016	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.Q292*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	292					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.Q292*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CAAGTTTGTGCAGGTAAAGCA	0.353													False	0	False	4:25395511	0	T	25395511	C	T	25395511	4	4	19	1	0	0	0	0	0	1	0	0	604	711	25	2	912	2	ANAPC4	4	25395511	Nonsense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		25395511	165758765	25	1517											
CHRNA9	55584	broad.mit.edu	37	chr4	40339267	40339267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgcttatttgtggatccGccaaatctggcacgatgcct	10	11	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:40339267G>A	ENST00000310169.2	+	3	390	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	84					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	p.R84H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TTGTGGATCCGCCAAATCTGG	0.483													False	0	False	4:40339267	0	A	40339267	G	A	40339267	3	1	19	1	0	0	0	0	1	0	0	0	3412	1087	38	1	261	1	CHRNA9	4	40339267	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	14943756	40339267	150815009	26	1518											
F11	2160	broad.mit.edu	37	chr4	187206814	187206814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagtcacctaagattttgCgtgtctacagtggcatttta	9	7	2	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr4:187206814C>T	ENST00000264692.4	+	12	1504	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	F11_ENST00000403665.2_Missense_Mutation_p.R443C			P03951	FA11_HUMAN	coagulation factor XI	443	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.R443C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAAGATTTTGCGTGTCTACAG	0.358													False	0	False	4:187206814	0	T	187206814	C	T	187206814	3	4	19	1	0	0	0	0	1	0	0	0	5370	768	27	1	1369	1	F11	4	187206814	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	146867547	187206814	3947462	27	1519											
SLC12A7	10723	broad.mit.edu	37	chr5	1074737	1074737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagcagggcgtagcgggCggcgttcagggataggccac	19	11	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:1074737C>A	ENST00000264930.5	-	16	2060	c.2017G>T	c.(2017-2019)Gcc>Tcc	p.A673S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	673					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGTAGCGGGCGGCGTTCAGG	0.672													False	0	True	5:1074737	0	A	1074737	C	A	1074737	3	1	19	1	0	0	0	0	1	0	0	0	14469	768	27	3	1270	3	SLC12A7	5	1074737	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		1074737	179840523	28	1520											
FBXL7	23194	broad.mit.edu	37	chr5	15928366	15928366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacgggcgagaccatcaaCgtggaccgcgccctcaaggt	13	14	2	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:15928366C>T	ENST00000504595.1	+	3	976	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FBXL7_ENST00000329673.7_Silent_p.N153N|FBXL7_ENST00000510662.1_Silent_p.N118N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	165					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGACCATCAACGTGGACCGCG	0.667													False	0	False	5:15928366	0	T	15928366	C	T	15928366	2	4	19	1	0	0	0	0	0	0	0	1	5764	535	19	1		1	FBXL7	5	15928366	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	14853629	15928366	164986894	29	1521											
DDX46	9879	broad.mit.edu	37	chr5	134130654	134130654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagtaaacctattgaaGtacaagttggaggcaggagt	11	7	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:134130654G>A	ENST00000452510.2	+	14	1899	c.1741G>A	c.(1741-1743)Gta>Ata	p.V581I	DDX46_ENST00000354283.4_Missense_Mutation_p.V581I|DDX46_ENST00000509178.1_3'UTR	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	581	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCTATTGAAGTACAAGTTGG	0.468													False	0	False	5:134130654	0	A	134130654	G	A	134130654	3	1	19	1	0	0	0	0	1	0	0	0	4389	1029	36	2	1795	2	DDX46	5	134130654	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	118202288	134130654	46784606	30	1522											
PCDHA1	0	broad.mit.edu	37	chr5	140167336	140167336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcggacgcgcaggagaaCgcgctggtgtcctattcgct	15	12	0	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:140167336C>T	ENST00000504120.2	+	1	1461	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHA1_ENST00000378133.3_Silent_p.N487N|PCDHA1_ENST00000394633.3_Silent_p.N487N	NM_018900.2	NP_061723.1												p.N487K(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCGCTGGTGT	0.657													False	0	False	5:140167336	0	T	140167336	C	T	140167336	2	4	19	1	0	0	0	0	0	0	0	1	11587	535	19	1		1	PCDHA1	5	140167336	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	6036682	140167336	40747924	31	1523											
PCDHGB3	0	broad.mit.edu	37	chr5	140751953	140751953	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcatgctgcacctaatcttCgcagatagcttgcaagagat	9	10	2	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:140751953C>T	ENST00000576222.1	+	1	2123	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTAATCTTCGCAGATAGCT	0.607													False	0	False	5:140751953	0	T	140751953	C	T	140751953	2	4	19	1	0	0	0	0	0	0	0	1	11632	883	31	1		1	PCDHGB3	5	140751953	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	584617	140751953	40163307	32	1524											
ADAMTS2	9509	broad.mit.edu	37	chr5	178541162	178541162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgaacacgtcaatgtcGttgtgcttcccaggcggtgg	14	10	1	1	rs79606317		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr5:178541162G>A	ENST00000251582.7	-	22	3443	c.3342C>T	c.(3340-3342)aaC>aaT	p.N1114N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1114					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1114N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGTCAATGTCGTTGTGCTTCC	0.587													False	0	False	5:178541162	0	A	178541162	G	A	178541162	2	1	19	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178541162	Silent	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	37789209	178541162	2374098	33	1525											
PKHD1	5314	broad.mit.edu	37	chr6	51944795	51944795	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagaccctcatgtgcttcaGacagcacagatctgaggaca	9	12	3	4			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:51944795G>A	ENST00000371117.3	-	5	568	c.293C>T	c.(292-294)tCt>tTt	p.S98F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S98F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	98	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTGCTTCAGACAGCACAGA	0.473													False	0	False	6:51944795	0	A	51944795	G	A	51944795	3	1	19	1	0	0	0	0	1	0	0	0	12040	942	33	2	12222	2	PKHD1	6	51944795	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08		51944795	119170272	34	1526											
LIN28B	389421	broad.mit.edu	37	chr6	105474175	105474175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctgctctttacagagCaaactattcatggaaggatt	7	9	4	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:105474175C>A	ENST00000345080.4	+	3	404	c.201C>A	c.(199-201)agC>agA	p.S67R		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	67	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CTTTACAGAGCAAACTATTCA	0.338													False	0	True	6:105474175	0	A	105474175	C	A	105474175	3	1	19	1	0	0	0	0	1	0	0	0	8859	709	25	3	211	3	LIN28B	6	105474175	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	53529380	105474175	65640892	35	1527											
NKAIN2	154215	broad.mit.edu	37	chr6	124979616	124979616	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagtgcacacaaatggaatCtgtgggtaaagtgtggcctt	12	7	2	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr6:124979616C>A	ENST00000368416.1	+	4	618	c.558C>A	c.(556-558)atC>atA	p.I186I	NKAIN2_ENST00000368417.1_Intron|NKAIN2_ENST00000545433.1_Intron|NKAIN2_ENST00000546092.1_Intron			Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	13						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CAAATGGAATCTGTGGGTAAA	0.453													False	0	False	6:124979616	0	A	124979616	C	A	124979616	2	1	19	1	0	0	0	0	0	0	0	1	10504	928	32	3		3	NKAIN2	6	124979616	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	19505441	124979616	46135451	36	1528											
DNAH11	8701	broad.mit.edu	37	chr7	21640427	21640427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacctctgggtggatgatcGagctgagtttatgaagcatt	12	6	1	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:21640427G>A	ENST00000328843.6	+	16	3165	c.3134G>A	c.(3133-3135)cGa>cAa	p.R1045Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.R1045Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1045	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGGATGATCGAGCTGAGTTT	0.448									Kartagener syndrome				False	0	False	7:21640427	0	A	21640427	G	A	21640427	3	1	19	1	0	0	0	0	1	0	0	0	4629	1058	37	1	3196	1	DNAH11	7	21640427	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08		21640427	137498236	37	1529											
HECW1	23072	broad.mit.edu	37	chr7	43351452	43351452	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggtgcaaggagccgctcCgatacagctacaaccccgac	11	16	0	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:43351452C>T	ENST00000395891.2	+	4	723	c.118C>T	c.(118-120)Cga>Tga	p.R40*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.R40*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGAGCCGCTCCGATACAGCTA	0.617													False	0	False	7:43351452	0	T	43351452	C	T	43351452	4	4	19	1	0	0	0	0	0	1	0	0	7089	644	23	1	124	1	HECW1	7	43351452	Nonsense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	21711025	43351452	115787211	38	1530											
STYXL1	51657	broad.mit.edu	37	chr7	75634627	75634627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctttgattttcaagtcCttctgaatcttggggtcaca	10	8	4	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:75634627C>T	ENST00000451157.1	-	6	718	c.549G>A	c.(547-549)aaG>aaA	p.K183K	STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000248600.1_Silent_p.K183K|STYXL1_ENST00000340062.5_Silent_p.K87K|STYXL1_ENST00000431581.1_Silent_p.K183K|STYXL1_ENST00000359697.3_Silent_p.K183K			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	183	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TTTTCAAGTCCTTCTGAATCT	0.398													False	0	False	7:75634627	0	T	75634627	C	T	75634627	2	4	19	1	0	0	0	0	0	0	0	1	15443	680	24	2		2	STYXL1	7	75634627	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	32283175	75634627	83504036	39	1531											
PTPN12	0	broad.mit.edu	37	chr7	77212936	77212936	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatacagtaatagattTttggaggatgatatgggagt	12	2	0	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:77212936T>G	ENST00000248594.6	+	4	622	c.350T>G	c.(349-351)tTt>tGt	p.F117C	PTPN12_ENST00000415482.2_5'UTR|PTPN12_ENST00000435495.2_Intron	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	117	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GTAATAGATTTTTGGAGGATG	0.299													False	0	True	7:77212936	0	G	77212936	T	G	77212936	3	3	19	1	0	0	0	0	1	0	0	0	12858	1841	64	4	364	4	PTPN12	7	77212936	Missense_Mutation	SNP	T	TCGA-2L-AAQL-01A-11D-A38G-08	1578309	77212936	81925727	40	1532											
GRM8	0	broad.mit.edu	37	chr7	126173853	126173853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaagggacccctttcaccGttttcttcctctcccctggc	7	17	3	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:126173853G>A	ENST00000339582.2	-	9	2391	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	GRM8_ENST00000444921.2_Missense_Mutation_p.T528M|GRM8_ENST00000358373.3_Missense_Mutation_p.T528M|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	528					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCCTTTCACCGTTTTCTTCCT	0.542										HNSCC(24;0.065)			False	0	True	7:126173853	0	A	126173853	G	A	126173853	3	1	19	1	0	0	0	0	1	0	0	0	6850	1145	40	1	1205	1	GRM8	7	126173853	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	48960917	126173853	32964810	41	1533											
FLNC	2318	broad.mit.edu	37	chr7	128495281	128495282	+	Frame_Shift_Ins	INS	-	-	A													aggtctccatcaagttcaatINSgatgagcacatcccagacag							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:128495281_128495282insA	ENST00000325888.8	+	43	7425_7426	c.7164_7165insA	c.(7165-7167)gatfs	p.D2389fs	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Frame_Shift_Ins_p.D2356fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2389					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCAAGTTCAATGATGAGCACAT	0.624													False	0	False	7:128495281	0	A	128495282	-	A	128495281	7	5	19	1	0	1	1	0	0	0	0	0	5975	1461	51	0	7334	0	FLNC	7	128495281	Frame_Shift_Ins	INS	-	TCGA-2L-AAQL-01A-11D-A38G-08	2321428	128495281	30643382	42	1534											
KEL	3792	broad.mit.edu	37	chr7	142655036	142655036	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttaaggaagtccattTaccagagatgcgccagcctc	9	10	0	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr7:142655036T>G	ENST00000355265.2	-	6	1024	c.550A>C	c.(550-552)Aaa>Caa	p.K184Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	184					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAAGTCCATTTACCAGAGATG	0.517													False	0	True	7:142655036	0	G	142655036	T	G	142655036	3	3	19	1	0	0	0	0	1	0	0	0	8192	1763	61	4	1704	4	KEL	7	142655036	Missense_Mutation	SNP	T	TCGA-2L-AAQL-01A-11D-A38G-08	14159755	142655036	16483627	43	1535											
NEIL2	252969	broad.mit.edu	37	chr8	11637109	11637109	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctgttcattttttctaggtCcatggaaagaaattattcct	6	7	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:11637109C>G	ENST00000284503.6	+	3	740	c.141C>G	c.(139-141)gtC>gtG	p.V47V	NEIL2_ENST00000436750.3_Silent_p.V47V|NEIL2_ENST00000455213.2_Silent_p.V47V|NEIL2_ENST00000403422.3_5'UTR|NEIL2_ENST00000528323.1_Intron	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	47					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TTTTCTAGGTCCATGGAAAGA	0.468								Base excision repair (BER), DNA glycosylases					False	0	False	8:11637109	0	G	11637109	C	G	11637109	2	3	19	1	0	0	0	0	0	0	0	1	10387	842	30	5		5	NEIL2	8	11637109	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		11637109	134726913	44	1536											
LGI3	203190	broad.mit.edu	37	chr8	22006465	22006465	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctggctgtccaccaccatCggcttgcagtgcactgcaga	11	14	0	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:22006465C>T	ENST00000306317.2	-	8	1144	c.855G>A	c.(853-855)ccG>ccA	p.P285P	LGI3_ENST00000424267.2_Silent_p.P261P	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	285					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCACCACCATCGGCTTGCAGT	0.637													False	0	False	8:22006465	0	T	22006465	C	T	22006465	2	4	19	1	0	0	0	0	0	0	0	1	8805	871	31	1		1	LGI3	8	22006465	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	10369356	22006465	124357557	45	1537											
ATP6V1H	51606	broad.mit.edu	37	chr8	54684564	54684564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacctaaggtcctggacaCtctctccaagtttttccaaa	5	14	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr8:54684564C>T	ENST00000355221.3	-	9	1539	c.980G>A	c.(979-981)aGt>aAt	p.S327N	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.S345N|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.S305N|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.S345N	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	345					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GTCCTGGACACTCTCTCCAAG	0.373													False	0	True	8:54684564	0	T	54684564	C	T	54684564	3	4	19	1	0	0	0	0	1	0	0	0	1193	565	20	2	437	2	ATP6V1H	8	54684564	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	32678099	54684564	91679458	46	1538											
DMRT2	10655	broad.mit.edu	37	chr9	1056510	1056510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgcccacctgccttgAtttaaccatgcagtattcag	6	11	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:1056510A>G	ENST00000382251.3	+	5	1252	c.923A>G	c.(922-924)gAt>gGt	p.D308G	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.D308G|DMRT2_ENST00000302441.6_Missense_Mutation_p.D308G|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	308					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		ACCTGCCTTGATTTAACCATG	0.458													False	0	True	9:1056510	0	G	1056510	A	G	1056510	3	3	19	1	0	0	0	0	1	0	0	0	4616	333	12	4	990	4	DMRT2	9	1056510	Missense_Mutation	SNP	A	TCGA-2L-AAQL-01A-11D-A38G-08		1056510	140156921	47	1539											
GLIS3	169792	broad.mit.edu	37	chr9	4118378	4118378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacgcccttctggctgCcgggcaccgggcgcggctgg	16	17	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:4118378C>T	ENST00000324333.10	-	3	828	c.635G>A	c.(634-636)gGc>gAc	p.G212D	GLIS3_ENST00000381971.3_Missense_Mutation_p.G367D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	212					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTTCTGGCTGCCGGGCACCGG	0.736													False	0	False	9:4118378	0	T	4118378	C	T	4118378	3	4	19	1	0	0	0	0	1	0	0	0	6492	739	26	2	1724	2	GLIS3	9	4118378	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	3061868	4118378	137095053	48	1540											
PLAA	9373	broad.mit.edu	37	chr9	26919394	26919394	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaatttagctacttgatccAgaaacataggattcaaatca	5	7	2	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:26919394A>G	ENST00000397292.3	-	9	1748	c.1331T>C	c.(1330-1332)cTg>cCg	p.L444P	PLAA_ENST00000520641.1_5'UTR|PLAA_ENST00000520884.1_Missense_Mutation_p.L444P	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	444	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TACTTGATCCAGAAACATAGG	0.353													False	0	False	9:26919394	0	G	26919394	A	G	26919394	3	3	19	1	0	0	0	0	1	0	0	0	12080	188	7	4	1080	4	PLAA	9	26919394	Missense_Mutation	SNP	A	TCGA-2L-AAQL-01A-11D-A38G-08	22801016	26919394	114294037	49	1541											
COL5A1	1289	broad.mit.edu	37	chr9	137593107	137593107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaattcctcgaccgcagCgaccaccccatgatcgacat	6	17	0	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr9:137593107C>T	ENST00000371817.3	+	4	996	c.582C>T	c.(580-582)agC>agT	p.S194S	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	194	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGACCGCAGCGACCACCCCA	0.522													False	0	False	9:137593107	0	T	137593107	C	T	137593107	2	4	19	1	0	0	0	0	0	0	0	1	3719	767	27	1		1	COL5A1	9	137593107	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	110673713	137593107	3620324	50	1542											
CUBN	8029	broad.mit.edu	37	chr10	17169885	17169885	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgaggcagaccaattgcactCccttttaactctataatatc	5	11	1	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:17169885C>A	ENST00000377833.4	-	3	356	c.291G>T	c.(289-291)ggG>ggT	p.G97G	CUBN_ENST00000377823.1_Silent_p.G97G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	97					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAATTGCACTCCCTTTTAACT	0.323													False	0	True	10:17169885	0	A	17169885	C	A	17169885	2	1	19	1	0	0	0	0	0	0	0	1	4076	842	30	3		3	CUBN	10	17169885	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		17169885	118364862	51	1543											
TLL2	7093	broad.mit.edu	37	chr10	98157035	98157035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggagacgaggggctccGggatcttatcgccacaaaac	13	12	1	1	rs142713663	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:98157035G>A	ENST00000357947.3	-	11	1517	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	431	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GAGGGGCTCCGGGATCTTATC	0.577													False	0	True	10:98157035	0	A	98157035	G	A	98157035	3	1	19	1	0	0	0	0	1	0	0	0	16028	1116	39	1	1799	1	TLL2	10	98157035	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	80987150	98157035	37377712	52	1544											
KNDC1	85442	broad.mit.edu	37	chr10	135009218	135009218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgcagccaagttcagcGtcccccgcaaccacaagctg	10	17	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr10:135009218G>A	ENST00000304613.3	+	10	1648	c.1627G>A	c.(1627-1629)Gtc>Atc	p.V543I	KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	543	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGTTCAGCGTCCCCCGCAA	0.687													False	0	False	10:135009218	0	A	135009218	G	A	135009218	3	1	19	1	0	0	0	0	1	0	0	0	8476	1145	40	1	1665	1	KNDC1	10	135009218	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	36852183	135009218	525529	53	1545											
FAT3	120114	broad.mit.edu	37	chr11	92532543	92532543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatggagaagtgacctatGtcctgcaggatgactatggc	12	8	0	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:92532543G>A	ENST00000298047.6	+	9	6381	c.6364G>A	c.(6364-6366)Gtc>Atc	p.V2122I	FAT3_ENST00000409404.2_Missense_Mutation_p.V2122I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1972I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2122	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V2122L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGACCTATGTCCTGCAGGA	0.423										TCGA Ovarian(4;0.039)			False	0	False	11:92532543	0	A	92532543	G	A	92532543	3	1	19	1	0	0	0	0	1	0	0	0	5731	1377	48	2	6398	2	FAT3	11	92532543	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08		92532543	42473973	54	1546											
NCAM1	4684	broad.mit.edu	37	chr11	113078701	113078701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggctggcgagcaggatgCgaccatccacctcaaagtct	11	13	2	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:113078701C>T	ENST00000316851.7	+	6	863	c.863C>T	c.(862-864)gCg>gTg	p.A288V	NCAM1_ENST00000533760.1_Missense_Mutation_p.A180V|NCAM1_ENST00000401611.2_Missense_Mutation_p.A297V|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	298	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAGCAGGATGCGACCATCCAC	0.537													False	0	False	11:113078701	0	T	113078701	C	T	113078701	3	4	19	1	0	0	0	0	1	0	0	0	10270	768	27	1	920	1	NCAM1	11	113078701	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	20546158	113078701	21927815	55	1547											
OR4D5	219875	broad.mit.edu	37	chr11	123810974	123810974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctggtgcttctgggatcGtacacagcactgctagtcat	10	10	3	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:123810974G>A	ENST00000307033.2	+	1	725	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTCTGGGATCGTACACAGCAC	0.512													False	0	False	11:123810974	0	A	123810974	G	A	123810974	2	1	19	1	0	0	0	0	0	0	0	1	11125	1132	40	1		1	OR4D5	11	123810974	Silent	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	10732273	123810974	11195542	56	1548											
OPCML	4978	broad.mit.edu	37	chr11	132307148	132307148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttactttccgcacatcgGgcgcagcgacatcgttcaac	8	13	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr11:132307148G>A	ENST00000331898.7	-	4	1210	c.632C>T	c.(631-633)cCc>cTc	p.P211L	OPCML_ENST00000541867.1_Missense_Mutation_p.P211L|OPCML_ENST00000524381.1_Missense_Mutation_p.P204L|OPCML_ENST00000374778.4_Missense_Mutation_p.P170L|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	211	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CCGCACATCGGGCGCAGCGAC	0.542													False	0	True	11:132307148	0	A	132307148	G	A	132307148	3	1	19	1	0	0	0	0	1	0	0	0	10942	1232	43	2	421	2	OPCML	11	132307148	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	8496174	132307148	2699368	57	1549											
KRAS	3845	broad.mit.edu	37	chr12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcactgtactcctctTgacctgctgtgtcgagaata	8	11	2	2	rs121913240		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:25380276T>C	ENST00000311936.3	-	3	373	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25380276	0	C	25380276	T	C	25380276	3	2	19	1	0	0	0	0	1	0	0	0	8488	1812	63	4	520	4	KRAS	12	25380276	Missense_Mutation	SNP	T	TCGA-2L-AAQL-01A-11D-A38G-08		25380276	108471619	58	1550											
KRT76	51350	broad.mit.edu	37	chr12	53170526	53170526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggtcttgatctgttcccGctcctgggcctttacttgcc	11	13	2	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:53170526G>A	ENST00000332411.2	-	1	603	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	184	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCTGTTCCCGCTCCTGGGCC	0.557													False	0	True	12:53170526	0	A	53170526	G	A	53170526	3	1	19	1	0	0	0	0	1	0	0	0	8539	1086	38	1	1402	1	KRT76	12	53170526	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	27790250	53170526	80681369	59	1551											
PLXNC1	10154	broad.mit.edu	37	chr12	94620456	94620456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaccccttcacagcttgCgacccttctgattatgagag	7	14	2	2	rs139278274	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr12:94620456C>T	ENST00000258526.4	+	8	2115	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	622					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCACAGCTTGCGACCCTTCTG	0.483													False	0	False	12:94620456	0	T	94620456	C	T	94620456	2	4	19	1	0	0	0	0	0	0	0	1	12195	776	27	1		1	PLXNC1	12	94620456	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	41449930	94620456	39231439	60	1552											
TEP1	7011	broad.mit.edu	37	chr14	20869179	20869179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgacgctttgttcccccGtaggctcagctcccgctccc	9	19	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:20869179G>A	ENST00000262715.5	-	9	1553	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	TEP1_ENST00000556935.1_Missense_Mutation_p.R397W	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	505	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTGTTCCCCCGTAGGCTCAGC	0.542													False	0	True	14:20869179	0	A	20869179	G	A	20869179	3	1	19	1	0	0	0	0	1	0	0	0	15841	1144	40	1	6558	1	TEP1	14	20869179	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08		20869179	86480361	61	1553											
CHD8	57680	broad.mit.edu	37	chr14	21875121	21875121	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caatttcacgaagctcaggaCaatctgacaaaatcatctca	5	11	5	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:21875121C>G	ENST00000399982.2	-	13	2865	c.2801G>C	c.(2800-2802)tGt>tCt	p.C934S	CHD8_ENST00000557364.1_Missense_Mutation_p.C934S|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.C655S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	934	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGCTCAGGACAATCTGACAA	0.438													False	0	False	14:21875121	0	G	21875121	C	G	21875121	3	3	19	1	0	0	0	0	1	0	0	0	3354	478	17	5	5044	5	CHD8	14	21875121	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	1005942	21875121	85474419	62	1554											
SYNE2	23224	broad.mit.edu	37	chr14	64468799	64468799	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcatctatcaacacctaagGgtaagtatataagttctcac	6	10	3	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:64468799G>C	ENST00000358025.3	+	29	4016	c.3786G>C	c.(3784-3786)agG>agC	p.R1262S	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Splice_Site_p.R1262S|SYNE2_ENST00000554584.1_Splice_Site_p.R1262S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1262					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACACCTAAGGGTAAGTATAT	0.368													False	0	True	14:64468799	0	C	64468799	G	C	64468799	5	2	19	1	0	0	0	0	0	0	1	0	15528	1246	43	5	3896	5	SYNE2	14	64468799	Splice_Site	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	42593678	64468799	42880741	63	1555											
MAP3K9	4293	broad.mit.edu	37	chr14	71199938	71199939	+	Frame_Shift_Ins	INS	-	-	TTATATGTTTTTAAAGATTCTCTCACCACTA													gggtgggctcctcatggattINSccatcactggaggggccatc							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:71199938_71199939insTTATATGTTTTTAAAGATTCTCTCACCACTA	ENST00000553414.1	-	10	1661_1662	c.1346_1347insTAGTGGTGAGAGAATCTTTAAAAACATATAA	c.(1345-1347)ggafs	p.-449fs	MAP3K9_ENST00000555993.2_Frame_Shift_Ins_p.-730fs|MAP3K9_ENST00000381250.4_Frame_Shift_Ins_p.-693fs|MAP3K9_ENST00000554146.1_Frame_Shift_Ins_p.-444fs|MAP3K9_ENST00000554752.2_Frame_Shift_Ins_p.-716fs			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCTCATGGATTCCATCACTGGA	0.639													False	0	False	14:71199938	0	TTATATGTTTTTAAAGATTCTCTCACCACTA	71199939	-	TTATATGTTTTTAAAGATTCTCTCACCACTA	71199938	7	5	19	1	0	1	1	0	0	0	0	0	9324	1770	62	0	1174	0	MAP3K9	14	71199938	Frame_Shift_Ins	INS	-	TCGA-2L-AAQL-01A-11D-A38G-08	6731139	71199938	36149602	64	1556											
AHNAK2	113146	broad.mit.edu	37	chr14	105412337	105412337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagacaccccgaacgacgGcatcttgaacttgggcattt	11	12	1	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:105412337G>A	ENST00000333244.5	-	7	9570	c.9451C>T	c.(9451-9453)Ccg>Tcg	p.P3151S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3151						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAACGACGGCATCTTGAAC	0.597													False	0	False	14:105412337	0	A	105412337	G	A	105412337	3	1	19	1	0	0	0	0	1	0	0	0	415	1203	42	2	7940	2	AHNAK2	14	105412337	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	34212399	105412337	1937203	65	1557											
AHNAK2	113146	broad.mit.edu	37	chr14	105413912	105413912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctccagccgcgcaccatCcagctttgctctcggggcct	9	20	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr14:105413912C>T	ENST00000333244.5	-	7	7995	c.7876G>A	c.(7876-7878)Gat>Aat	p.D2626N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2626						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGCGCACCATCCAGCTTTGCT	0.592													False	0	False	14:105413912	0	T	105413912	C	T	105413912	3	4	19	1	0	0	0	0	1	0	0	0	415	855	30	2	9515	2	AHNAK2	14	105413912	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	1575	105413912	1935628	66	1558											
SPESP1	246777	broad.mit.edu	37	chr15	69238112	69238112	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttaaggagctagttacacAtggagacgcttcaactgaga	10	7	1	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:69238112A>G	ENST00000310673.3	+	2	393	c.239A>G	c.(238-240)cAt>cGt	p.H80R	NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	80					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CTAGTTACACATGGAGACGCT	0.403													False	0	False	15:69238112	0	G	69238112	A	G	69238112	3	3	19	1	0	0	0	0	1	0	0	0	15122	217	8	4	245	4	SPESP1	15	69238112	Missense_Mutation	SNP	A	TCGA-2L-AAQL-01A-11D-A38G-08		69238112	33293280	67	1559											
AKAP13	11214	broad.mit.edu	37	chr15	86124353	86124353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgcccagagcctggtGccaccaggagcaagtctggc	16	13	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr15:86124353G>A	ENST00000394518.2	+	7	3149	c.3054G>A	c.(3052-3054)gtG>gtA	p.V1018V	AKAP13_ENST00000361243.2_Silent_p.V1018V	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1018					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAGCCTGGTGCCACCAGGAG	0.572													False	0	False	15:86124353	0	A	86124353	G	A	86124353	2	1	19	1	0	0	0	0	0	0	0	1	449	1306	46	2		2	AKAP13	15	86124353	Silent	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	16886241	86124353	16407039	68	1560											
IGFALS	3483	broad.mit.edu	37	chr16	1843655	1843655	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctttcctcagggccatcCtgcatgcagggcaggctgca	11	15	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:1843655C>A	ENST00000415638.3	-	0	78				IGFALS_ENST00000215539.3_De_novo_Start_InFrame|IGFALS_ENST00000568221.1_Intron	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CAGGGCCATCCTGCATGCAGG	0.716													False	0	True	16:1843655	0	A	1843655	C	A	1843655	1	1	19	1	0	0	0	0	0	0	0	0	7627	696	24	3		3	IGFALS	16	1843655	Translation_Start_Site	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		1843655	88511098	69	1561											
TMC5	79838	broad.mit.edu	37	chr16	19488791	19488791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaaaatatcaatcattgGcattctttgttactattggc	6	6	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:19488791G>A	ENST00000396229.2	+	13	2869	c.2120G>A	c.(2119-2121)gGc>gAc	p.G707D	TMC5_ENST00000541464.1_Missense_Mutation_p.G655D|TMC5_ENST00000542583.2_Missense_Mutation_p.G707D|TMC5_ENST00000219821.5_Missense_Mutation_p.G461D|TMC5_ENST00000561503.1_Missense_Mutation_p.G348D|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Missense_Mutation_p.G707D|TMC5_ENST00000564959.1_Missense_Mutation_p.G390D	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	707						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAATCATTGGCATTCTTTGT	0.383													False	0	False	16:19488791	0	A	19488791	G	A	19488791	3	1	19	1	0	0	0	0	1	0	0	0	16070	1203	42	2	2476	2	TMC5	16	19488791	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	17645136	19488791	70865962	70	1562											
FOXF1	2294	broad.mit.edu	37	chr16	86544569	86544569	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccggccagcgagttcatgTtcgaggagggctcctttcgg	14	12	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:86544569T>C	ENST00000262426.4	+	1	437	c.394T>C	c.(394-396)Ttc>Ctc	p.F132L		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	132					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CGAGTTCATGTTCGAGGAGGG	0.632													False	0	False	16:86544569	0	C	86544569	T	C	86544569	3	2	19	1	0	0	0	0	1	0	0	0	6047	1725	60	4	396	4	FOXF1	16	86544569	Missense_Mutation	SNP	T	TCGA-2L-AAQL-01A-11D-A38G-08	67055778	86544569	3810184	71	1563											
ANKRD11	29123	broad.mit.edu	37	chr16	89350085	89350085	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgctccttgcagctctcCagggcgtcctttctgtcccg	10	17	2	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr16:89350085C>A	ENST00000301030.4	-	9	3325	c.2865G>T	c.(2863-2865)ctG>ctT	p.L955L	ANKRD11_ENST00000378330.2_Silent_p.L955L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	955	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCAGCTCTCCAGGGCGTCCT	0.612													False	0	False	16:89350085	0	A	89350085	C	A	89350085	2	1	19	1	0	0	0	0	0	0	0	1	639	581	21	3		3	ANKRD11	16	89350085	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	2805516	89350085	1004668	72	1564											
TP53	7157	broad.mit.edu	37	chr17	7578555	7578555	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgagggcaggggagtaCtgtaggaagaggaaggagac	19	3	0	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:7578555C>A	ENST00000420246.2	-	5	508		c.e5-1		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGGAGTACTGTAGGAAGA	0.552		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)			False	0	False	17:7578555	0	A	7578555	C	A	7578555	5	1	19	1	0	0	0	0	0	0	1	0	16464	579	20	3	923	3	TP53	17	7578555	Splice_Site	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		7578555	73616655	73	1565											
MYH4	4622	broad.mit.edu	37	chr17	10352050	10352050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcgactccttctgggaggcCtcaagttcagcctgagtttc	11	13	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:10352050C>A	ENST00000255381.2	-	32	4526	c.4416G>T	c.(4414-4416)gaG>gaT	p.E1472D	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1472					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTGGGAGGCCTCAAGTTCAG	0.448													False	0	False	17:10352050	0	A	10352050	C	A	10352050	3	1	19	1	0	0	0	0	1	0	0	0	10104	680	24	3	1439	3	MYH4	17	10352050	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	2773495	10352050	70843160	74	1566											
NOTUM	147111	broad.mit.edu	37	chr17	79914915	79914915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagctgctcagccacaCggtccacattcaggagcacc	8	17	3	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr17:79914915C>T	ENST00000409678.3	-	7	1114	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	244				R -> L (in Ref. 1; AAH36872).		extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTCAGCCACACGGTCCACATT	0.662													False	0	False	17:79914915	0	T	79914915	C	T	79914915	3	4	19	1	0	0	0	0	1	0	0	0	10620	536	19	1	779	1	NOTUM	17	79914915	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	69562865	79914915	1280295	75	1567											
L3MBTL4	91133	broad.mit.edu	37	chr18	6239823	6239823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagggttcttcctgtccaCggcctccagcttcattccaa	9	14	2	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:6239823C>T	ENST00000400104.3	-	9	801	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.V14M|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.V201M|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.V201M|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.V201M			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	201					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTCCTGTCCACGGCCTCCAGC	0.463													False	0	False	18:6239823	0	T	6239823	C	T	6239823	3	4	19	1	0	0	0	0	1	0	0	0	8645	536	19	1	1318	1	L3MBTL4	18	6239823	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		6239823	71837425	76	1568											
MC5R	4161	broad.mit.edu	37	chr18	13825811	13825811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggatctcaacctgaatgCcacagagggcaacctttcag	9	12	2	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:13825811C>T	ENST00000324750.3	+	1	269	c.47C>T	c.(46-48)gCc>gTc	p.A16V		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	16					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AACCTGAATGCCACAGAGGGC	0.438													False	0	False	18:13825811	0	T	13825811	C	T	13825811	3	4	19	1	0	0	0	0	1	0	0	0	9434	739	26	2	49	2	MC5R	18	13825811	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	7585988	13825811	64251437	77	1569											
DSG3	1830	broad.mit.edu	37	chr18	29049139	29049139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagacagtcagaacaatcGgtgtgagatgccacgcagct	11	10	1	3			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:29049139G>A	ENST00000257189.4	+	12	1807	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	575					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGAACAATCGGTGTGAGATG	0.527													False	0	False	18:29049139	0	A	29049139	G	A	29049139	3	1	19	1	0	0	0	0	1	0	0	0	4808	1116	39	1	1770	1	DSG3	18	29049139	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	15223328	29049139	49028109	78	1570											
ST8SIA5	29906	broad.mit.edu	37	chr18	44272163	44272163	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcagagatgttcatcgCccatttgcacatctggaggc	11	12	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:44272163C>A	ENST00000315087.7	-	3	940	c.280G>T	c.(280-282)Gcg>Tcg	p.A94S	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A130S|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A63S|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	94					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ATGTTCATCGCCCATTTGCAC	0.522													False	0	True	18:44272163	0	A	44272163	C	A	44272163	3	1	19	1	0	0	0	0	1	0	0	0	15317	739	26	3	870	3	ST8SIA5	18	44272163	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	15223024	44272163	33805085	79	1571											
MALT1	10892	broad.mit.edu	37	chr18	56401610	56401610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatattgtgtttggatatgCcacgtaagaacatttgatgt	9	5	0	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:56401610C>T	ENST00000348428.3	+	12	1730	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.A480V	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	491	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TTTGGATATGCCACGTAAGAA	0.403			T	BIRC3	MALT								False	0	False	18:56401610	0	T	56401610	C	T	56401610	3	4	19	1	0	0	0	0	1	0	0	0	9269	739	26	2	1518	2	MALT1	18	56401610	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	12129447	56401610	21675638	80	1572											
TMX3	54495	broad.mit.edu	37	chr18	66377374	66377374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaatggccacaccatggcGcataaaacttgttttaaaaa	6	9	0	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr18:66377374G>A	ENST00000299608.2	-	4	465	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TMX3_ENST00000443099.2_Missense_Mutation_p.A50V|TMX3_ENST00000562706.1_Missense_Mutation_p.A50V	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	50	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ACACCATGGCGCATAAAACTT	0.323													False	0	False	18:66377374	0	A	66377374	G	A	66377374	3	1	19	1	0	0	0	0	1	0	0	0	16350	1087	38	1	1267	1	TMX3	18	66377374	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	9975764	66377374	11699874	81	1573											
ATP8B3	148229	broad.mit.edu	37	chr19	1785279	1785279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgcacagggcggtccagtaCttgatgataagaatgacctg	12	9	0	4			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:1785279C>A	ENST00000539485.1	-	27	3674	c.3441G>T	c.(3439-3441)aaG>aaT	p.K1147N	ATP8B3_ENST00000310127.6_Missense_Mutation_p.K1137N|ATP8B3_ENST00000525591.1_Missense_Mutation_p.K1100N			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1137					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTCCAGTACTTGATGATAA	0.607													False	0	False	19:1785279	0	A	1785279	C	A	1785279	3	1	19	1	0	0	0	0	1	0	0	0	1200	564	20	3	503	3	ATP8B3	19	1785279	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		1785279	57343704	82	1574											
EEF2	1938	broad.mit.edu	37	chr19	3980040	3980040	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acatcctcgatgggctccacGtagcggcccatcatcaagat	9	14	2	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:3980040G>C	ENST00000309311.6	-	10	1459	c.1371C>G	c.(1369-1371)taC>taG	p.Y457*		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	457						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCTCCACGTAGCGGCCCA	0.627													False	0	False	19:3980040	0	C	3980040	G	C	3980040	4	2	19	1	0	0	0	0	0	1	0	0	4959	1140	40	5	1229	5	EEF2	19	3980040	Nonsense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	2194761	3980040	55148943	83	1575											
C3	718	broad.mit.edu	37	chr19	6694601	6694601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaatgaggtgcttcagccGttccgcgtcgacggcatcct	11	14	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:6694601G>A	ENST00000245907.6	-	24	3087	c.2995C>T	c.(2995-2997)Cgg>Tgg	p.R999W		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	999					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGCTTCAGCCGTTCCGCGTCG	0.622													False	0	False	19:6694601	0	A	6694601	G	A	6694601	3	1	19	1	0	0	0	0	1	0	0	0	2220	1144	40	1	2068	1	C3	19	6694601	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	2714561	6694601	52434382	84	1576											
ACTL9	284382	broad.mit.edu	37	chr19	8807951	8807951	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggcagccaccaccacGtgggtctcggctggcagagc	16	14	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:8807951G>C	ENST00000324436.3	-	1	1221	c.1101C>G	c.(1099-1101)caC>caG	p.H367Q		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	367						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCACCACCACGTGGGTCTCGG	0.677													False	0	True	19:8807951	0	C	8807951	G	C	8807951	3	2	19	1	0	0	0	0	1	0	0	0	203	1136	40	5	153	5	ACTL9	19	8807951	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	2113350	8807951	50321032	85	1577											
ZNF709	163051	broad.mit.edu	37	chr19	12576048	12576048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgactgaacgttttccCgcattctttacatttatagg	9	8	1	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:12576048C>T	ENST00000397732.3	-	4	859	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.G230R	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						AACGTTTTCCCGCATTCTTTA	0.403													False	0	True	19:12576048	0	T	12576048	C	T	12576048	3	4	19	1	0	0	0	0	1	0	0	0	18196	652	23	1	1241	1	ZNF709	19	12576048	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	3768097	12576048	46552935	86	1578											
ZNF790	388536	broad.mit.edu	37	chr19	37310991	37310991	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccattttttggtaataacttCttggtctgacacctcgactg	7	10	2	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:37310991C>A	ENST00000356725.4	-	5	375	c.255G>T	c.(253-255)aaG>aaT	p.K85N	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTAATAACTTCTTGGTCTGAC	0.323													False	0	False	19:37310991	0	A	37310991	C	A	37310991	3	1	19	1	0	0	0	0	1	0	0	0	18244	912	32	3	1659	3	ZNF790	19	37310991	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	24734943	37310991	21817992	87	1579											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	12	14	1	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627													False	0	False	19:40395919	0	A	40395919	G	A	40395919	3	1	19	1	0	0	0	0	1	0	0	0	5818	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	3084928	40395919	18733064	88	1580											
PSG7	5676	broad.mit.edu	37	chr19	43439844	43439845	+	RNA	INS	-	-	G													agtagaagaacatccttcccINSctcggaaacttttggtggct							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:43439844_43439845insG	ENST00000406070.2	-	0	237_238				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				ACATCCTTCCCCTCGGAAACTT	0.485													False	0	True	19:43439844	0	G	43439845	-	G	43439844	6	5	19	0	1	1	1	0	0	0	0	0	12736	623	22	0		0	PSG7	19	43439844	RNA	INS	-	TCGA-2L-AAQL-01A-11D-A38G-08	3043925	43439844	15689139	89	1581											
SYMPK	8189	broad.mit.edu	37	chr19	46357673	46357673	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgaggtggtcatgccatcGatgcccggcccctcctcttg	11	15	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr19:46357673G>A	ENST00000245934.7	-	2	325	c.81C>T	c.(79-81)atC>atT	p.I27I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	27	Interaction with HSF1.				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCATGCCATCGATGCCCGGCC	0.617													False	0	False	19:46357673	0	A	46357673	G	A	46357673	2	1	19	1	0	0	0	0	0	0	0	1	15521	1048	37	1		1	SYMPK	19	46357673	Silent	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	2917829	46357673	12771310	90	1582											
SIGLEC1	6614	broad.mit.edu	37	chr20	3687258	3687258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccgtcgggcacctccaCgtcggcagggaagctgaaga	15	12	0	2			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:3687258C>T	ENST00000344754.4	-	2	144	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V49M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	49	Ig-like V-type.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCACCTCCACGTCGGCAGGG	0.672													False	0	False	20:3687258	0	T	3687258	C	T	3687258	3	4	19	1	0	0	0	0	1	0	0	0	14386	536	19	1	5064	1	SIGLEC1	20	3687258	Missense_Mutation	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08		3687258	59338262	91	1583											
C20orf26	26074	broad.mit.edu	37	chr20	20056245	20056245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccactatcctcagctgcaCgttcgcaaagccaggtacag	9	14	1	0	rs116838168	byFrequency	TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:20056245C>T	ENST00000245957.5	+	6	628	c.552C>T	c.(550-552)caC>caT	p.H184H	C20orf26_ENST00000377306.1_Silent_p.H184H|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Silent_p.H184H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	184										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCAGCTGCACGTTCGCAAAG	0.478													False	0	False	20:20056245	0	T	20056245	C	T	20056245	2	4	19	1	0	0	0	0	0	0	0	1	2122	535	19	1		1	C20orf26	20	20056245	Silent	SNP	C	TCGA-2L-AAQL-01A-11D-A38G-08	16368987	20056245	42969275	92	1584											
MMP9	4318	broad.mit.edu	37	chr20	44639630	44639630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctttcctcctggccccgGcattcagggagacgcccatt	10	17	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:44639630G>A	ENST00000372330.3	+	4	609	c.590G>A	c.(589-591)gGc>gAc	p.G197D		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	197					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCTGGCCCCGGCATTCAGGGA	0.602													False	0	False	20:44639630	0	A	44639630	G	A	44639630	3	1	19	1	0	0	0	0	1	0	0	0	9736	1203	42	2	604	2	MMP9	20	44639630	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	24583385	44639630	18385890	93	1585											
RNF114	55905	broad.mit.edu	37	chr20	48561946	48561946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccaagatccggtcccacGtggctacttgttccaaatac	8	13	0	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:48561946G>A	ENST00000244061.2	+	3	321	c.319G>A	c.(319-321)Gtg>Atg	p.V107M		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	107					cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						CCGGTCCCACGTGGCTACTTG	0.458													False	0	False	20:48561946	0	A	48561946	G	A	48561946	3	1	19	1	0	0	0	0	1	0	0	0	13508	1145	40	1	329	1	RNF114	20	48561946	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	3922316	48561946	14463574	94	1586											
ARFGAP1	55738	broad.mit.edu	37	chr20	61906986	61906986	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagtcagggtgcaggatgaGaacaacgtaagcctctgccc	13	10	2	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr20:61906986G>T	ENST00000370275.4	+	2	146	c.54G>T	c.(52-54)gaG>gaT	p.E18D	ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.E18D|ARFGAP1_ENST00000547204.1_5'UTR|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.R2I|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E18D	NM_001281482.1	NP_001268411.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	18	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					TGCAGGATGAGAACAACGTAA	0.517													False	0	False	20:61906986	0	T	61906986	G	T	61906986	3	4	19	1	0	0	0	0	1	0	0	0	851	933	33	3	56	3	ARFGAP1	20	61906986	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	13345040	61906986	1118534	95	1587											
PLXNB2	23654	broad.mit.edu	37	chr22	50728171	50728171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgcagccacggaggcGgccaggcaggtgccaaaggc	17	14	0	0			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chr22:50728171G>A	ENST00000449103.1	-	3	983	c.843C>T	c.(841-843)gcC>gcT	p.A281A	PLXNB2_ENST00000359337.4_Silent_p.A281A			O15031	PLXB2_HUMAN	plexin B2	281	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGGAGGCGGCCAGGCAGG	0.662													False	0	False	22:50728171	0	A	50728171	G	A	50728171	2	1	19	1	0	0	0	0	0	0	0	1	12193	1103	39	1		1	PLXNB2	22	50728171	Silent	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08		50728171	576395	96	1588											
CNKSR2	22866	broad.mit.edu	37	chrX	21627423	21627423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctggaggattctgtcTtctctgactccgcggccatc	10	15	3	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:21627423T>C	ENST00000425654.2	+	19	2770	c.2290T>C	c.(2290-2292)Ttc>Ctc	p.F764L	CNKSR2_ENST00000279451.4_Missense_Mutation_p.F794L|CNKSR2_ENST00000543067.1_Missense_Mutation_p.F745L|CNKSR2_ENST00000379510.3_Missense_Mutation_p.F794L	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	794					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGATTCTGTCTTCTCTGACTC	0.567													False	0	False	X:21627423	0	C	21627423	T	C	21627423	3	2	19	1	0	0	0	0	1	0	0	0	3630	1609	56	4	2458	4	CNKSR2	23	21627423	Missense_Mutation	SNP	T	TCGA-2L-AAQL-01A-11D-A38G-08		21627423	133643137	97	1589											
TAF1	6872	broad.mit.edu	37	chrX	70642968	70642970	+	Splice_Site	DEL	AAG	AAG	-													ttgctttgtttaatttcagaAagaagacaaattagctcgct							TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:70642968_70642970delAAG	ENST00000373790.4	+	30	4502_4504	c.4451_4453delAAG	c.(4450-4455)aaagaa>aaa	p.E1485del	TAF1_ENST00000449580.1_Splice_Site_p.E1485del|TAF1_ENST00000276072.3_Splice_Site_p.E1506del|TAF1_ENST00000423759.1_Splice_Site_p.E1506del	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1485	Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TAATTTCAGAAAGAAGACAAATT	0.443													False	2	True	X:70642968	0	-	70642970	AAG	-	70642968	8	5	19	1	0	1	0	1	0	0	1	0	15595	28	1	0	4632	0	TAF1	23	70642968	Splice_Site	DEL	AAG	TCGA-2L-AAQL-01A-11D-A38G-08	49015545	70642968	84627592	98	1590											
ACTRT1	139741	broad.mit.edu	37	chrX	127185417	127185417	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaagaacctcgggcacttGgtacagctcatccccaaagt	8	12	1	1			TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:127185417G>A	ENST00000371124.3	-	1	965	c.769C>T	c.(769-771)Caa>Taa	p.Q257*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	257						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCGGGCACTTGGTACAGCTCA	0.542													False	0	False	X:127185417	0	A	127185417	G	A	127185417	4	1	19	1	0	0	0	0	0	1	0	0	218	1357	47	2	365	2	ACTRT1	23	127185417	Nonsense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	56542449	127185417	28085143	99	1591											
BCORL1	63035	broad.mit.edu	37	chrX	129185988	129185988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaagtgtcagtgtcccGcgggtaagtgtccgagagat	13	11	1	1	rs143047034		TCGA-2L-AAQL-01A-11D-A38G-08	TCGA-2L-AAQL-11A-11D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac8948c6-17c3-4cc4-b432-8f66595f2769	8145a789-a66e-4b2d-ae0e-2784364aff45	g.chrX:129185988G>A	ENST00000540052.1	+	11	4894	c.4850G>A	c.(4849-4851)cGc>cAc	p.R1617H	BCORL1_ENST00000359304.2_Missense_Mutation_p.R1487H|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1691H|BCORL1_ENST00000218147.7_Missense_Mutation_p.R1617H	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1617					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCAGTGTCCCGCGGGTAAGTG	0.527													False	0	True	X:129185988	0	A	129185988	G	A	129185988	3	1	19	1	0	0	0	0	1	0	0	0	1391	1087	38	1	5118	1	BCORL1	23	129185988	Missense_Mutation	SNP	G	TCGA-2L-AAQL-01A-11D-A38G-08	2000571	129185988	26084572	100	1592											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	20	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-3A-A9I5-01A-11D-A38G-08		22987385	226263236	1	1593											
GJA5	2702	broad.mit.edu	37	chr1	147230999	147230999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taagagccagagccccggacCtctttggccctctcggcctc	10	17	2	2	rs150168016		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:147230999C>G	ENST00000271348.2	-	2	509	c.348G>C	c.(346-348)gaG>gaC	p.E116D	GJA5_ENST00000369237.1_Missense_Mutation_p.E116D	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	116					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AGCCCCGGACCTCTTTGGCCC	0.622													False	0	False	1:147230999	0	G	147230999	C	G	147230999	3	3	20	1	0	0	0	0	1	0	0	0	6449	680	24	5	732	5	GJA5	1	147230999	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	124243614	147230999	102019622	2	1594											
SNX27	81609	broad.mit.edu	37	chr1	151611414	151611414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcaggtggtggacctgaTtcgagcaggcgagaaggaat	16	7	0	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:151611414T>C	ENST00000368843.3	+	2	482	c.362T>C	c.(361-363)aTt>aCt	p.I121T	SNX27_ENST00000368838.1_Missense_Mutation_p.I28T|SNX27_ENST00000458013.2_Missense_Mutation_p.I121T	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	121	PDZ.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGGACCTGATTCGAGCAGGC	0.483													False	0	False	1:151611414	0	C	151611414	T	C	151611414	3	2	20	1	0	0	0	0	1	0	0	0	14977	1493	52	4	368	4	SNX27	1	151611414	Missense_Mutation	SNP	T	TCGA-3A-A9I5-01A-11D-A38G-08	4380415	151611414	97639207	3	1595											
CD1E	913	broad.mit.edu	37	chr1	158325907	158325907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccattggggtgagaaacagCtgaggctctgctgggaaata	14	7	1	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:158325907C>T	ENST00000434258.1	+	4	921	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368154.1_Intron			P15812	CD1E_HUMAN	CD1e molecule	0					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGAGAAACAGCTGAGGCTCTG	0.542													False	0	False	1:158325907	0	T	158325907	C	T	158325907	2	4	20	1	0	0	0	0	0	0	0	1	3001	812	28	2		2	CD1E	1	158325907	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	6714493	158325907	90924714	4	1596											
FAM129A	116496	broad.mit.edu	37	chr1	184764871	184764871	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgagcatgtgcccgggAgtcctgctgtgtcctctgtt	13	11	1	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:184764871A>T	ENST00000367511.3	-	14	2220	c.2027T>A	c.(2026-2028)cTc>cAc	p.L676H	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	676					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGTGCCCGGGAGTCCTGCTGT	0.582													False	0	True	1:184764871	0	T	184764871	A	T	184764871	3	4	20	1	0	0	0	0	1	0	0	0	5472	304	11	5	763	5	FAM129A	1	184764871	Missense_Mutation	SNP	A	TCGA-3A-A9I5-01A-11D-A38G-08	26438964	184764871	64485750	5	1597											
HMCN1	83872	broad.mit.edu	37	chr1	186086639	186086639	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agatttcctagtaaccaaacAtgccccagcagtaattacct	5	12	0	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:186086639A>T	ENST00000271588.4	+	77	11961	c.11732A>T	c.(11731-11733)cAt>cTt	p.H3911L	HMCN1_ENST00000367492.2_Missense_Mutation_p.H3911L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3911	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTAACCAAACATGCCCCAGCA	0.438													False	0	False	1:186086639	0	T	186086639	A	T	186086639	3	4	20	1	0	0	0	0	1	0	0	0	7267	217	8	5	12038	5	HMCN1	1	186086639	Missense_Mutation	SNP	A	TCGA-3A-A9I5-01A-11D-A38G-08	1321768	186086639	63163982	6	1598											
FAIM3	9214	broad.mit.edu	37	chr1	207087157	207087157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccggtctgtgttcatgCccgctccgcaggcatagact	10	15	2	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:207087157C>T	ENST00000367091.3	-	2	463	c.320G>A	c.(319-321)gGc>gAc	p.G107D	FAIM3_ENST00000420007.2_Missense_Mutation_p.G107D|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	107					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TGTGTTCATGCCCGCTCCGCA	0.527													False	0	True	1:207087157	0	T	207087157	C	T	207087157	3	4	20	1	0	0	0	0	1	0	0	0	5413	739	26	2	880	2	FAIM3	1	207087157	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	21000518	207087157	42163464	7	1599											
PTPN14	5784	broad.mit.edu	37	chr1	214557519	214557519	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctgaagagatagttcTtaagcatgtgggccgtgctg	15	7	1	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:214557519T>G	ENST00000366956.5	-	13	1873	c.1679A>C	c.(1678-1680)aAg>aCg	p.K560T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	560					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GAGATAGTTCTTAAGCATGTG	0.652													False	0	False	1:214557519	0	G	214557519	T	G	214557519	3	3	20	1	0	0	0	0	1	0	0	0	12860	1609	56	4	1912	4	PTPN14	1	214557519	Missense_Mutation	SNP	T	TCGA-3A-A9I5-01A-11D-A38G-08	7470362	214557519	34693102	8	1600											
SIPA1L2	57568	broad.mit.edu	37	chr1	232600891	232600891	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttccttggctttaccttctCctttttcttcgcacccagcg	5	16	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:232600891C>G	ENST00000366630.1	-	8	2873	c.2515G>C	c.(2515-2517)Gag>Cag	p.E839Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E839Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	839					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTACCTTCTCCTTTTTCTTC	0.517													False	0	False	1:232600891	0	G	232600891	C	G	232600891	3	3	20	1	0	0	0	0	1	0	0	0	14411	864	30	5	2713	5	SIPA1L2	1	232600891	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	18043372	232600891	16649730	9	1601											
ROBO2	6092	broad.mit.edu	37	chr3	77684144	77684144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaaacacaagggagggcGgatggaccaacaaccagcat	11	9	0	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:77684144G>A	ENST00000461745.1	+	24	4784	c.3884G>A	c.(3883-3885)cGg>cAg	p.R1295Q	ROBO2_ENST00000332191.8_Missense_Mutation_p.R1356Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.R1311Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1295					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGGGAGGGCGGATGGACCAA	0.517													False	0	False	3:77684144	0	A	77684144	G	A	77684144	3	1	20	1	0	0	0	0	1	0	0	0	13593	1116	39	1	3980	1	ROBO2	3	77684144	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		77684144	120338286	10	1602											
CASR	846	broad.mit.edu	37	chr3	121980827	121980827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtacttccacgtggttggCggcaccattggattcgctct	11	12	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:121980827C>T	ENST00000498619.1	+	4	1383	c.945C>T	c.(943-945)ggC>ggT	p.G315G	CASR_ENST00000490131.1_Silent_p.G315G|CASR_ENST00000296154.5_Silent_p.G315G	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	315					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACGTGGTTGGCGGCACCATTG	0.587													False	0	False	3:121980827	0	T	121980827	C	T	121980827	2	4	20	1	0	0	0	0	0	0	0	1	2702	755	27	1		1	CASR	3	121980827	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	44296683	121980827	76041603	11	1603											
PRR23A	729627	broad.mit.edu	37	chr3	138724864	138724864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcaggatcgacgttggcgGgagctccagcaccaggtcga	15	12	0	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:138724864G>A	ENST00000383163.2	-	1	246	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	83										endometrium(3)|kidney(1)|lung(7)	11						GACGTTGGCGGGAGCTCCAGC	0.672													False	0	True	3:138724864	0	A	138724864	G	A	138724864	3	1	20	1	0	0	0	0	1	0	0	0	12670	1232	43	2	557	2	PRR23A	3	138724864	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	16744037	138724864	59297566	12	1604											
XRN1	54464	broad.mit.edu	37	chr3	142151540	142151540	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgctggttcatttttgctcGaggagccacaccatctacag	9	12	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:142151540G>A	ENST00000264951.4	-	2	388	c.271C>T	c.(271-273)Cga>Tga	p.R91*	XRN1_ENST00000463916.1_Nonsense_Mutation_p.R91*|XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000392981.2_Nonsense_Mutation_p.R91*	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	91					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	p.R91*(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATTTTTGCTCGAGGAGCCACA	0.338													False	0	False	3:142151540	0	A	142151540	G	A	142151540	4	1	20	1	0	0	0	0	0	1	0	0	17543	1066	37	1	5013	1	XRN1	3	142151540	Nonsense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	3426676	142151540	55870890	13	1605											
TNIK	23043	broad.mit.edu	37	chr3	170811703	170811703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaggtctccagcccatgCgtccccaccattcccacatt	7	17	1	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:170811703C>T	ENST00000436636.2	-	23	2990	c.2646G>A	c.(2644-2646)acG>acA	p.T882T	TNIK_ENST00000470834.1_Silent_p.T845T|TNIK_ENST00000341852.6_Silent_p.T798T|TNIK_ENST00000460047.1_Silent_p.T819T|TNIK_ENST00000488470.1_Silent_p.T827T|TNIK_ENST00000284483.8_Silent_p.T874T|TNIK_ENST00000357327.5_Silent_p.T853T|TNIK_ENST00000538048.1_Silent_p.T834T|TNIK_ENST00000369326.5_Silent_p.T860T|TNIK_ENST00000475336.1_Silent_p.T790T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	882	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCAGCCCATGCGTCCCCACCA	0.468													False	0	False	3:170811703	0	T	170811703	C	T	170811703	2	4	20	1	0	0	0	0	0	0	0	1	16395	755	27	1		1	TNIK	3	170811703	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	28660163	170811703	27210727	14	1606											
EPHB3	2049	broad.mit.edu	37	chr3	184294634	184294634	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatattcctcacagccgtGccatctccaccccgaggtgt	7	17	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:184294634G>T	ENST00000330394.2	+	5	1469	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	339						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCACAGCCGTGCCATCTCCAC	0.587													False	0	False	3:184294634	0	T	184294634	G	T	184294634	2	4	20	1	0	0	0	0	0	0	0	1	5208	1306	46	3		3	EPHB3	3	184294634	Silent	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	13482931	184294634	13727796	15	1607											
EGF	1950	broad.mit.edu	37	chr4	110909769	110909769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgagatgggtgtcccaGtgtgcccccctgcctcctcc	11	15	0	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:110909769G>A	ENST00000265171.5	+	18	3083	c.2638G>A	c.(2638-2640)Gtg>Atg	p.V880M	EGF_ENST00000509793.1_Missense_Mutation_p.V838M|EGF_ENST00000503392.1_Missense_Mutation_p.V880M	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	880	EGF-like 7; calcium-binding (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGGTGTCCCAGTGTGCCCCCC	0.463													False	0	False	4:110909769	0	A	110909769	G	A	110909769	3	1	20	1	0	0	0	0	1	0	0	0	4992	1029	36	2	2708	2	EGF	4	110909769	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		110909769	80244507	16	1608											
ARHGAP10	79658	broad.mit.edu	37	chr4	148802993	148802993	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgattatttgcagggggAcggagaggtgttctttttga	14	3	1	3			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:148802993A>G	ENST00000336498.3	+	10	1183	c.944A>G	c.(943-945)gAc>gGc	p.D315G		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	315	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGCAGGGGGACGGAGAGGTG	0.408													False	0	True	4:148802993	0	G	148802993	A	G	148802993	3	3	20	1	0	0	0	0	1	0	0	0	864	275	10	4	982	4	ARHGAP10	4	148802993	Missense_Mutation	SNP	A	TCGA-3A-A9I5-01A-11D-A38G-08	37893224	148802993	42351283	17	1609											
IRF2	3660	broad.mit.edu	37	chr4	185339858	185339858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatctactcctggttgatgCtttcctaacaaaagagacaa	6	9	1	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:185339858C>A	ENST00000393593.3	-	4	399	c.192G>T	c.(190-192)aaG>aaT	p.K64N	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	64					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CTGGTTGATGCTTTCCTAACA	0.378													False	0	True	4:185339858	0	A	185339858	C	A	185339858	3	1	20	1	0	0	0	0	1	0	0	0	7878	796	28	3	881	3	IRF2	4	185339858	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	36536865	185339858	5814418	18	1610											
FGFR4	2264	broad.mit.edu	37	chr5	176523645	176523645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgggagatcttcaccctcGggggctccccgtatcctggc	12	14	2	1	rs67419797		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr5:176523645G>A	ENST00000292408.4	+	16	2301	c.2056G>A	c.(2056-2058)Ggg>Agg	p.G686R	FGFR4_ENST00000393637.1_Missense_Mutation_p.G646R|FGFR4_ENST00000502906.1_Missense_Mutation_p.G686R|FGFR4_ENST00000393648.2_Missense_Mutation_p.G618R|FGFR4_ENST00000292410.3_Missense_Mutation_p.G646R	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	686	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CTTCACCCTCGGGGGCTCCCC	0.667										TSP Lung(9;0.080)			False	0	True	5:176523645	0	A	176523645	G	A	176523645	3	1	20	1	0	0	0	0	1	0	0	0	5908	1116	39	1	2184	1	FGFR4	5	176523645	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		176523645	4391615	19	1611											
TDP2	51567	broad.mit.edu	37	chr6	24654677	24654682	+	In_Frame_Del	DEL	GGAAAA	GGAAAA	-													ttctcatcattttggtacttGgaaaaggaataatctcttgg							TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	GGAAAA	GGAAAA	-	-	GGAAAA	GGAAAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:24654677_24654682delGGAAAA	ENST00000341060.3	-	4	815_820	c.420_425delTTTTCC	c.(418-426)ccttttcca>cca	p.140_142PFP>P	TDP2_ENST00000478285.1_5'UTR|TDP2_ENST00000378198.4_In_Frame_Del_p.198_200PFP>P|TDP2_ENST00000545995.1_In_Frame_Del_p.228_230PFP>P			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	198					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TTTGGTACTTGGAAAAGGAATAATCT	0.272								Direct reversal of damage					False	1	True	6:24654677	0	-	24654682	GGAAAA	-	24654677	7	5	20	1	0	1	0	1	0	0	0	0	15811	1348	47	0	501	0	TDP2	6	24654677	In_Frame_Del	DEL	GGAAAA	TCGA-3A-A9I5-01A-11D-A38G-08		24654677	146460390	20	1612											
DST	667	broad.mit.edu	37	chr6	56469950	56469950	+	Missense_Mutation	SNP	G	G	A													aatgtgtattcccttcccacGatgtaatgtctgaagtaatg							TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:56469950G>A	ENST00000370754.5	-	39	9376	c.9377C>T	c.(9376-9378)tCg>tTg	p.S3126L	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S2948L|DST_ENST00000312431.6_Missense_Mutation_p.S2948L|DST_ENST00000361203.3_Missense_Mutation_p.S2948L|DST_ENST00000446842.2_Missense_Mutation_p.S2622L			Q03001	DYST_HUMAN	dystonin	2948					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCTTCCCACGATGTAATGTC	0.333													False	0	False	6:56469950	0	A	56469950	G	A	56469950	3	1	20	1	0	0	0	0	1	0	0	0	4813	1073	37	1		1	DST	6	56469950	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	31815273	56469950	114645117	21	1613	13	2									
DST	667	broad.mit.edu	37	chr6	56469951	56469951	+	Missense_Mutation	SNP	A	A	T													atgtgtattcccttcccacgAtgtaatgtctgaagtaatgt							TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:56469951A>T	ENST00000370754.5	-	39	9375	c.9376T>A	c.(9376-9378)Tcg>Acg	p.S3126T	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S2948T|DST_ENST00000312431.6_Missense_Mutation_p.S2948T|DST_ENST00000361203.3_Missense_Mutation_p.S2948T|DST_ENST00000446842.2_Missense_Mutation_p.S2622T			Q03001	DYST_HUMAN	dystonin	2948					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTCCCACGATGTAATGTCT	0.333													False	0	False	6:56469951	0	T	56469951	A	T	56469951	3	4	20	1	0	0	0	0	1	0	0	0	4813	348	12	5		5	DST	6	56469951	Missense_Mutation	SNP	A	TCGA-3A-A9I5-01A-11D-A38G-08	1	56469951	114645116	22	1614	13	2									
VGLL2	245806	broad.mit.edu	37	chr6	117593645	117593645	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tattccctctgtggtgcatcCctcctgagctgatctgctga	9	13	2	3			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:117593645C>G	ENST00000326274.5	+	4	1132	c.942C>G	c.(940-942)tcC>tcG	p.S314S	VGLL2_ENST00000352536.3_Silent_p.S140S	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	314					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		GTGGTGCATCCCTCCTGAGCT	0.542													False	0	True	6:117593645	0	G	117593645	C	G	117593645	2	3	20	1	0	0	0	0	0	0	0	1	17243	610	22	5		5	VGLL2	6	117593645	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	61123694	117593645	53521422	23	1615											
LATS1	9113	broad.mit.edu	37	chr6	150004721	150004721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctctggttttaatacacGcatacttttcacaggctgtt	7	9	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:150004721G>A	ENST00000543571.1	-	4	2051	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.R502C|LATS1_ENST00000253339.5_Missense_Mutation_p.R502C	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	502					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.R502C(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTAATACACGCATACTTTTC	0.443													False	0	False	6:150004721	0	A	150004721	G	A	150004721	3	1	20	1	0	0	0	0	1	0	0	0	8697	1087	38	1	1908	1	LATS1	6	150004721	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	32411076	150004721	21110346	24	1616											
KBTBD2	25948	broad.mit.edu	37	chr7	32909811	32909811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttctgaaggcagtctgaaGtttgcttgttttactgtgat	11	5	2	3			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:32909811G>T	ENST00000304056.4	-	4	1717	c.1018C>A	c.(1018-1020)Ctt>Att	p.L340I	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	340										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GCAGTCTGAAGTTTGCTTGTT	0.403													False	0	True	7:32909811	0	T	32909811	G	T	32909811	3	4	20	1	0	0	0	0	1	0	0	0	8043	1029	36	3	857	3	KBTBD2	7	32909811	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		32909811	126228852	25	1617											
MUC17	140453	broad.mit.edu	37	chr7	100679767	100679767	+	Frame_Shift_Del	DEL	T	T	-													acttatactgaaggaagaacTcctttaacaagtataactgt							TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:100679767delT	ENST00000306151.4	+	3	5134	c.5070delT	c.(5068-5070)actfs	p.T1690fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1690	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGGAAGAACTCCTTTAACAA	0.473													False	1	False	7:100679767	0	-	100679767	T	-	100679767	7	5	20	1	0	1	0	1	0	0	0	0	10041	1538	54	0	5080	0	MUC17	7	100679767	Frame_Shift_Del	DEL	T	TCGA-3A-A9I5-01A-11D-A38G-08	67769956	100679767	58458896	26	1618											
CFTR	1080	broad.mit.edu	37	chr7	117188841	117188843	+	In_Frame_Del	DEL	GTT	GTT	-													ttcaagatagaaagaggacaGttgttggcggttgctggatc							TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	GTT	GTT	-	-	GTT	GTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:117188841_117188843delGTT	ENST00000003084.6	+	10	1488_1490	c.1356_1358delGTT	c.(1354-1359)cagttg>cag	p.L454del	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	454	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAAGAGGACAGTTGTTGGCGGTT	0.379									Cystic Fibrosis				False	2	False	7:117188841	0	-	117188843	GTT	-	117188841	7	5	20	1	0	1	0	1	0	0	0	0	3317	1020	36	0	1394	0	CFTR	7	117188841	In_Frame_Del	DEL	GTT	TCGA-3A-A9I5-01A-11D-A38G-08	16509074	117188841	41949822	27	1619											
EGR3	1960	broad.mit.edu	37	chr8	22550452	22550452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttctcggcgagtttgccGgtcatagcactcccgagctg	12	13	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:22550452G>A	ENST00000317216.2	-	1	363	c.6C>T	c.(4-6)acC>acT	p.T2T	EGR3_ENST00000519492.1_Silent_p.T2T|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	2					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CGAGTTTGCCGGTCATAGCAC	0.657													False	0	False	8:22550452	0	A	22550452	G	A	22550452	2	1	20	1	0	0	0	0	0	0	0	1	5003	1103	39	1		1	EGR3	8	22550452	Silent	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		22550452	123813570	28	1620											
ANK1	286	broad.mit.edu	37	chr8	41573238	41573238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttccacatggccctcacGggctgcaatgtgcagggggg	15	11	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:41573238G>A	ENST00000396942.1	-	14	1617	c.1534C>T	c.(1534-1536)Cgt>Tgt	p.R512C	ANK1_ENST00000379758.2_Missense_Mutation_p.R512C|ANK1_ENST00000396945.1_Missense_Mutation_p.R512C|ANK1_ENST00000347528.4_Missense_Mutation_p.R512C|ANK1_ENST00000265709.8_Missense_Mutation_p.R545C|ANK1_ENST00000289734.7_Missense_Mutation_p.R512C|ANK1_ENST00000352337.4_Missense_Mutation_p.R512C			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	512	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	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)			TGGCCCTCACGGGCTGCAATG	0.607													False	0	True	8:41573238	0	A	41573238	G	A	41573238	3	1	20	1	0	0	0	0	1	0	0	0	620	1116	39	1	4581	1	ANK1	8	41573238	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	19022786	41573238	104790784	29	1621											
KIF27	55582	broad.mit.edu	37	chr9	86498835	86498835	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccagctcctgtagctgctTttgtgtttcaatcagttcga	8	10	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:86498835T>A	ENST00000297814.2	-	10	2481	c.2338A>T	c.(2338-2340)Aag>Tag	p.K780*	KIF27_ENST00000413982.1_Nonsense_Mutation_p.K780*|KIF27_ENST00000334204.2_Nonsense_Mutation_p.K780*|KIF27_ENST00000376347.1_Nonsense_Mutation_p.K171*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	780					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTAGCTGCTTTTGTGTTTCA	0.388													False	0	True	9:86498835	0	A	86498835	T	A	86498835	4	1	20	1	0	0	0	0	0	1	0	0	8346	1850	64	5	1903	5	KIF27	9	86498835	Nonsense_Mutation	SNP	T	TCGA-3A-A9I5-01A-11D-A38G-08		86498835	54714596	30	1622											
RPL7A	6130	broad.mit.edu	37	chr9	136218131	136218131	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcagatccgccgtcactgGggtggcaatgtcctgggtcc	13	12	2	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:136218131G>T	ENST00000323345.6	+	8	741	c.711G>T	c.(709-711)tgG>tgT	p.W237C	RPL7A_ENST00000315731.4_Missense_Mutation_p.W122C|RPL7A_ENST00000463740.1_3'UTR	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	237					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GCCGTCACTGGGGTGGCAATG	0.453													False	0	True	9:136218131	0	T	136218131	G	T	136218131	3	4	20	1	0	0	0	0	1	0	0	0	13679	1241	43	3	741	3	RPL7A	9	136218131	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	49719296	136218131	4995300	31	1623											
MRC1L1	0	broad.mit.edu	37	chr10	17949641	17949641	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggaatgattgtgtagctttAcatgcgtcttctgggttttg	12	6	2	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:17949641A>G	ENST00000331429.2	+	28	4108	c.4005A>G	c.(4003-4005)ttA>ttG	p.L1335L																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGTAGCTTTACATGCGTCTT	0.423													False	0	True	10:17949641	0	G	17949641	A	G	17949641	2	3	20	1	0	0	0	0	0	0	0	1	9824	388	14	4		4	MRC1L1	10	17949641	Silent	SNP	A	TCGA-3A-A9I5-01A-11D-A38G-08		17949641	117585106	32	1624											
ZEB1	6935	broad.mit.edu	37	chr10	31799625	31799625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagatgcattttcacaatTactcacctgtccatattgtg	5	11	2	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:31799625T>C	ENST00000446923.2	+	5	849	c.458T>C	c.(457-459)tTa>tCa	p.L153S	ZEB1_ENST00000542815.3_Missense_Mutation_p.L102S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.L169S|ZEB1_ENST00000361642.5_Missense_Mutation_p.L170S|ZEB1_ENST00000560721.2_Missense_Mutation_p.L149S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	169					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTTTCACAATTACTCACCTGT	0.318													False	0	False	10:31799625	0	C	31799625	T	C	31799625	3	2	20	1	0	0	0	0	1	0	0	0	17706	1764	61	4	538	4	ZEB1	10	31799625	Missense_Mutation	SNP	T	TCGA-3A-A9I5-01A-11D-A38G-08	13849984	31799625	103735122	33	1625											
ZNF32	7580	broad.mit.edu	37	chr10	44139613	44139613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctcctgtgtggattttgCcatgcagaatacaattcccc	7	12	1	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:44139613C>T	ENST00000395797.1	-	3	895	c.707G>A	c.(706-708)gGc>gAc	p.G236D	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.G236D|ZNF32-AS3_ENST00000458063.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GTGGATTTTGCCATGCAGAAT	0.532													False	0	False	10:44139613	0	T	44139613	C	T	44139613	3	4	20	1	0	0	0	0	1	0	0	0	17921	739	26	2	118	2	ZNF32	10	44139613	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	12339988	44139613	91395134	34	1626											
ANK3	288	broad.mit.edu	37	chr10	61831534	61831534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtttcctcgagaggtggGcataaacctacataactctg	10	10	1	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:61831534G>A	ENST00000280772.2	-	37	9296	c.9105C>T	c.(9103-9105)tgC>tgT	p.C3035C	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGAGAGGTGGGCATAAACCTA	0.418													False	0	True	10:61831534	0	A	61831534	G	A	61831534	2	1	20	1	0	0	0	0	0	0	0	1	622	1195	42	2		2	ANK3	10	61831534	Silent	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	17691921	61831534	73703213	35	1627											
FAT3	120114	broad.mit.edu	37	chr11	92532244	92532244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatacagcatcttaaaccCaggaaataagttcaagataa	5	7	2	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr11:92532244C>A	ENST00000298047.6	+	9	6082	c.6065C>A	c.(6064-6066)cCa>cAa	p.P2022Q	FAT3_ENST00000525166.1_Missense_Mutation_p.P1872Q|FAT3_ENST00000409404.2_Missense_Mutation_p.P2022Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2022	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTTAAACCCAGGAAATAAG	0.408										TCGA Ovarian(4;0.039)			False	0	True	11:92532244	0	A	92532244	C	A	92532244	3	1	20	1	0	0	0	0	1	0	0	0	5731	594	21	3	6099	3	FAT3	11	92532244	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08		92532244	42474272	36	1628											
LEPREL2	10536	broad.mit.edu	37	chr12	6940383	6940383	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgctccctctccagtggGcaatctgtcccaggctatag	10	14	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:6940383G>A	ENST00000251761.8	+	0	1022				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						TCTCCAGTGGGCAATCTGTCC	0.567													False	0	True	12:6940383	0	A	6940383	G	A	6940383	1	1	20	0	1	0	0	0	0	0	0	0	8782	1203	42	2		2	LEPREL2	12	6940383	RNA	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		6940383	126911512	37	1629											
LRP6	4040	broad.mit.edu	37	chr12	12284920	12284920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtaaacccatcgcaccGccaagccacagggatacagt	8	14	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:12284920G>A	ENST00000261349.4	-	18	3881	c.3805C>T	c.(3805-3807)Cgg>Tgg	p.R1269W	LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Intron|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1269	LDL-receptor class A 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCATCGCACCGCCAAGCCACA	0.483													False	0	False	12:12284920	0	A	12284920	G	A	12284920	3	1	20	1	0	0	0	0	1	0	0	0	9024	1086	38	1	1060	1	LRP6	12	12284920	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	5344537	12284920	121566975	38	1630											
LRMP	4033	broad.mit.edu	37	chr12	25260900	25260900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccagaagtctgtggatgCcgctcccacacagcaagagg	11	12	1	2	rs116094067	by1000genomes	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:25260900C>T	ENST00000354454.3	+	21	2235	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	LRMP_ENST00000547044.1_Missense_Mutation_p.A469V|LRMP_ENST00000548766.1_Missense_Mutation_p.A469V	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	525					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TCTGTGGATGCCGCTCCCACA	0.498													False	0	False	12:25260900	0	T	25260900	C	T	25260900	3	4	20	1	0	0	0	0	1	0	0	0	9012	739	26	2	1472	2	LRMP	12	25260900	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	12975980	25260900	108590995	39	1631											
LRRK2	120892	broad.mit.edu	37	chr12	40716292	40716294	+	In_Frame_Del	DEL	TGA	TGA	-													aaaaatcttacttgatgactTgatgaagaaagcagaggaag							TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:40716292_40716294delTGA	ENST00000298910.7	+	37	5547_5549	c.5489_5491delTGA	c.(5488-5493)ttgatg>ttg	p.M1831del		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1831					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTGATGACTTGATGAAGAAAGC	0.3													False	2	False	12:40716292	0	-	40716294	TGA	-	40716292	7	5	20	1	0	1	0	1	0	0	0	0	9095	1821	63	0	5635	0	LRRK2	12	40716292	In_Frame_Del	DEL	TGA	TCGA-3A-A9I5-01A-11D-A38G-08	15455392	40716292	93135603	40	1632											
MARS	4141	broad.mit.edu	37	chr12	57898028	57898028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcctcagtgtaaagtctgCcgatcatgccctgtggtgca	11	11	3	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:57898028C>T	ENST00000262027.5	+	11	1448	c.1314C>T	c.(1312-1314)tgC>tgT	p.C438C	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Silent_p.C204C	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	438					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GTAAAGTCTGCCGATCATGCC	0.557													False	0	False	12:57898028	0	T	57898028	C	T	57898028	2	4	20	1	0	0	0	0	0	0	0	1	9383	747	26	2		2	MARS	12	57898028	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	17181736	57898028	75953867	41	1633											
IFT88	8100	broad.mit.edu	37	chr13	21205194	21205194	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttggaaaaaaaggacagtAgagtgaaaagtgcagctgca	13	4	0	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr13:21205194A>G	ENST00000382778.4	+	17	2484	c.1366A>G	c.(1366-1368)Aga>Gga	p.R456G	IFT88_ENST00000319980.6_Missense_Mutation_p.R456G|IFT88_ENST00000537103.1_Missense_Mutation_p.R428G|IFT88_ENST00000351808.5_Missense_Mutation_p.R447G|IFT88_ENST00000461115.1_3'UTR			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	456					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	p.R456G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAAGGACAGTAGAGTGAAAAG	0.338													False	0	False	13:21205194	0	G	21205194	A	G	21205194	3	3	20	1	0	0	0	0	1	0	0	0	7616	412	15	4	1428	4	IFT88	13	21205194	Missense_Mutation	SNP	A	TCGA-3A-A9I5-01A-11D-A38G-08		21205194	93964684	42	1634											
COG6	57511	broad.mit.edu	37	chr13	40293931	40293931	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acattagctctatttgaattCactgacagacgtctggaaat	7	8	3	3			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr13:40293931C>A	ENST00000416691.1	+	15	1651	c.1551C>A	c.(1549-1551)ttC>ttA	p.F517L	COG6_ENST00000455146.3_Missense_Mutation_p.F517L	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	517					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TATTTGAATTCACTGACAGAC	0.348													False	0	False	13:40293931	0	A	40293931	C	A	40293931	3	1	20	1	0	0	0	0	1	0	0	0	3685	825	29	3	1609	3	COG6	13	40293931	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	19088737	40293931	74875947	43	1635											
CELF6	60677	broad.mit.edu	37	chr15	72611989	72611989	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagccggtccttcagcaccGtcagctcgtagatgcggccg	13	14	2	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr15:72611989G>A	ENST00000539635.1	-	0	139				CELF6_ENST00000287202.5_Missense_Mutation_p.T76M|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.T76M|CELF6_ENST00000569547.1_Missense_Mutation_p.T76M|RP11-106M3.3_ENST00000570175.1_RNA			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6						mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTTCAGCACCGTCAGCTCGTA	0.672													False	0	False	15:72611989	0	A	72611989	G	A	72611989	1	1	20	1	0	0	0	0	0	0	0	0	3243	1145	40	1		1	CELF6	15	72611989	Translation_Start_Site	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		72611989	29919403	44	1636											
PTX4	390667	broad.mit.edu	37	chr16	1537593	1537593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgggccacgggcagccGcccctccagagcagccagcc	15	17	0	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:1537593G>A	ENST00000447419.2	-	2	545	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	PTX4_ENST00000293922.1_Missense_Mutation_p.R169W|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	174						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						ACGGGCAGCCGCCCCTCCAGA	0.721													False	0	True	16:1537593	0	A	1537593	G	A	1537593	3	1	20	1	0	0	0	0	1	0	0	0	12902	1086	38	1	923	1	PTX4	16	1537593	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08		1537593	88817160	45	1637											
PKD1	5310	broad.mit.edu	37	chr16	2150516	2150516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgtccaggtgccggtggCcgctccggctgtccacccca	13	19	0	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:2150516C>T	ENST00000262304.4	-	27	9657	c.9449G>A	c.(9448-9450)gGc>gAc	p.G3150D	PKD1_ENST00000423118.1_Missense_Mutation_p.G3150D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3150	PLAT.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGCCGGTGGCCGCTCCGGCT	0.672													False	0	False	16:2150516	0	T	2150516	C	T	2150516	3	4	20	1	0	0	0	0	1	0	0	0	12032	739	26	2	3542	2	PKD1	16	2150516	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	612923	2150516	88204237	46	1638											
NLRC5	84166	broad.mit.edu	37	chr16	57074566	57074566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatgtccctccagggctGcatttcttgacagcctcatg	11	12	2	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:57074566G>A	ENST00000436936.1	+	17	3100	c.2875G>A	c.(2875-2877)Gca>Aca	p.A959T	NLRC5_ENST00000539144.1_Missense_Mutation_p.A959T|NLRC5_ENST00000262510.6_Missense_Mutation_p.A959T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A959T			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	959					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCCAGGGCTGCATTTCTTGA	0.587													False	0	False	16:57074566	0	A	57074566	G	A	57074566	3	1	20	1	0	0	0	0	1	0	0	0	10538	1319	46	2	2933	2	NLRC5	16	57074566	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	54924050	57074566	33280187	47	1639											
CPNE2	221184	broad.mit.edu	37	chr16	57157386	57157386	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccagctcatgttcaccGtaaggctctccccgctggct	10	16	3	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:57157386G>A	ENST00000535318.2	+	11	1288		c.e11+1		CPNE2_ENST00000565874.1_Splice_Site|CPNE2_ENST00000290776.8_Splice_Site|CPNE2_ENST00000537605.1_Splice_Site			Q96FN4	CPNE2_HUMAN	copine II											central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CATGTTCACCGTAAGGCTCTC	0.577													False	0	False	16:57157386	0	A	57157386	G	A	57157386	5	1	20	1	0	0	0	0	0	0	1	0	3835	1159	40	1	962	1	CPNE2	16	57157386	Splice_Site	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	82820	57157386	33197367	48	1640											
TAF1C	9013	broad.mit.edu	37	chr16	84215436	84215436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttaccaaacttccacacgGcacagtggtagtcagagcgg	11	11	1	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:84215436G>A	ENST00000567759.1	-	8	1132	c.950C>T	c.(949-951)gCc>gTc	p.A317V	TAF1C_ENST00000566732.1_Missense_Mutation_p.A291V|TAF1C_ENST00000378541.4_Missense_Mutation_p.A317V|TAF1C_ENST00000341690.6_Missense_Mutation_p.A224V|TAF1C_ENST00000541676.1_Missense_Mutation_p.A224V|TAF1C_ENST00000570117.1_5'UTR	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	317					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CTTCCACACGGCACAGTGGTA	0.597													False	0	False	16:84215436	0	A	84215436	G	A	84215436	3	1	20	1	0	0	0	0	1	0	0	0	15603	1203	42	2	1687	2	TAF1C	16	84215436	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	27058050	84215436	6139317	49	1641											
FOXC2	2303	broad.mit.edu	37	chr16	86602198	86602198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccggggccgccgcggcGcaggcggcctcctggtatct	16	17	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:86602198G>A	ENST00000320354.4	+	1	1342	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	419	Ala/Pro-rich.|Poly-Ala.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ccgccgcggcGCAGGCGGCCT	0.756									Late-onset Hereditary Lymphedema				False	0	False	16:86602198	0	A	86602198	G	A	86602198	2	1	20	1	0	0	0	0	0	0	0	1	6035	1074	38	1		1	FOXC2	16	86602198	Silent	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	2386762	86602198	3752555	50	1642											
GSG2	83903	broad.mit.edu	37	chr17	3629075	3629075	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattgacttagagcaaatgCgaaccaagttgtcttccttg	10	8	1	2	rs143259437	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:3629075C>T	ENST00000325418.4	+	1	1865	c.1846C>T	c.(1846-1848)Cga>Tga	p.R616*	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	616	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										AGAGCAAATGCGAACCAAGTT	0.493													False	0	False	17:3629075	0	T	3629075	C	T	3629075	4	4	20	1	0	0	0	0	0	1	0	0	6869	760	27	1	1848	1	GSG2	17	3629075	Nonsense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08		3629075	77566135	51	1643											
SPNS2	124976	broad.mit.edu	37	chr17	4436651	4436651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgacccactggtgtgtgCcgtgggcatgctgggctctg	17	12	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:4436651C>T	ENST00000329078.3	+	8	1412	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	401					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CTGGTGTGTGCCGTGGGCATG	0.642													False	0	True	17:4436651	0	T	4436651	C	T	4436651	3	4	20	1	0	0	0	0	1	0	0	0	15157	739	26	2	1232	2	SPNS2	17	4436651	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	807576	4436651	76758559	52	1644											
SPNS2	124976	broad.mit.edu	37	chr17	4439661	4439661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgtcgtggtcctgggcgGcatgttcttcctcgccactg	12	13	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:4439661G>A	ENST00000329078.3	+	11	1757	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	516					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GTCCTGGGCGGCATGTTCTTC	0.667													False	0	False	17:4439661	0	A	4439661	G	A	4439661	3	1	20	1	0	0	0	0	1	0	0	0	15157	1203	42	2	1589	2	SPNS2	17	4439661	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	3010	4439661	76755549	53	1645											
KCNH4	23415	broad.mit.edu	37	chr17	40318480	40318480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcagcccctgctcgctgCcccgaacaacggcagctgca	11	18	0	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:40318480C>A	ENST00000264661.3	-	10	2007	c.1675G>T	c.(1675-1677)Gca>Tca	p.A559S	KCNH4_ENST00000607371.1_Missense_Mutation_p.A559S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	559					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGCTCGCTGCCCCGAACAAC	0.622													False	0	True	17:40318480	0	A	40318480	C	A	40318480	3	1	20	1	0	0	0	0	1	0	0	0	8084	739	26	3	1406	3	KCNH4	17	40318480	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	35878819	40318480	40876730	54	1646											
CCDC43	124808	broad.mit.edu	37	chr17	42757964	42757964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggatacgtttgtcagaaCcaatgttcattgtggtagca	11	6	2	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:42757964C>T	ENST00000315286.8	-	4	484	c.476G>A	c.(475-477)gGt>gAt	p.G159D	CCDC43_ENST00000588210.1_Missense_Mutation_p.G162D|C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000457422.2_Intron	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	159										lung(2)	2		Prostate(33;0.0322)				TTTGTCAGAACCAATGTTCAT	0.433													False	0	False	17:42757964	0	T	42757964	C	T	42757964	3	4	20	1	0	0	0	0	1	0	0	0	2836	507	18	2	206	2	CCDC43	17	42757964	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	2439484	42757964	38437246	55	1647											
ZNF181	339318	broad.mit.edu	37	chr19	35232753	35232753	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catactggagagaaaccttaTgaatgtattaaatgtgggaa	10	4	0	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:35232753T>C	ENST00000392232.3	+	6	1767	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	ZNF181_ENST00000459757.2_Silent_p.Y488Y|ZNF181_ENST00000492450.1_Silent_p.Y489Y			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGAAACCTTATGAATGTATTA	0.388													False	0	False	19:35232753	0	C	35232753	T	C	35232753	2	2	20	1	0	0	0	0	0	0	0	1	17832	1471	51	4		4	ZNF181	19	35232753	Silent	SNP	T	TCGA-3A-A9I5-01A-11D-A38G-08		35232753	23896230	56	1648											
RYR1	6261	broad.mit.edu	37	chr19	38976333	38976333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccctgggcaacaatcgcGtggcgcacgctctgtgcagc	14	15	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:38976333G>A	ENST00000355481.4	+	34	5169	c.5038G>A	c.(5038-5040)Gtg>Atg	p.V1680M	RYR1_ENST00000359596.3_Missense_Mutation_p.V1680M|RYR1_ENST00000360985.3_Missense_Mutation_p.V1680M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1680	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAACAATCGCGTGGCGCACGC	0.672													False	0	False	19:38976333	0	A	38976333	G	A	38976333	3	1	20	1	0	0	0	0	1	0	0	0	13847	1145	40	1	5172	1	RYR1	19	38976333	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	3743580	38976333	20152650	57	1649											
RYR1	6261	broad.mit.edu	37	chr19	39008205	39008205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccccttccgccctgcccGccggcgcccccccaccctgc	7	28	0	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:39008205G>A	ENST00000355481.4	+	66	10023	c.9892G>A	c.(9892-9894)Gcc>Acc	p.A3298T	RYR1_ENST00000359596.3_Missense_Mutation_p.A3298T|RYR1_ENST00000360985.3_Missense_Mutation_p.A3298T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3298					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGCCCTGCCCGCCGGCGCCCC	0.642													False	0	True	19:39008205	0	A	39008205	G	A	39008205	3	1	20	1	0	0	0	0	1	0	0	0	13847	1087	38	1	10154	1	RYR1	19	39008205	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	31872	39008205	20120778	58	1650											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	12	14	1	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627													False	0	False	19:40395919	0	A	40395919	G	A	40395919	3	1	20	1	0	0	0	0	1	0	0	0	5818	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	1387714	40395919	18733064	59	1651											
MEGF8	1954	broad.mit.edu	37	chr19	42860499	42860499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctaggacactgccagcCgcttcctgcaccgcctgggc	10	19	0	0	rs142361779	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:42860499C>T	ENST00000334370.4	+	25	4950	c.4315C>T	c.(4315-4317)Cgc>Tgc	p.R1439C	MEGF8_ENST00000251268.6_Missense_Mutation_p.R1506C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1506	EGF-like 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CACTGCCAGCCGCTTCCTGCA	0.652													False	0	False	19:42860499	0	T	42860499	C	T	42860499	3	4	20	1	0	0	0	0	1	0	0	0	9530	652	23	1	4413	1	MEGF8	19	42860499	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	2464580	42860499	16268484	60	1652											
PRR12	57479	broad.mit.edu	37	chr19	50101153	50101153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgaccactgcggggccCgcctcggcctccacgcccac	11	22	0	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:50101153C>T	ENST00000418929.2	+	4	3573	c.3561C>T	c.(3559-3561)ccC>ccT	p.P1187P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	366							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGCGGGGCCCGCCTCGGCCT	0.766													False	0	True	19:50101153	0	T	50101153	C	T	50101153	2	4	20	1	0	0	0	0	0	0	0	1	12660	639	23	1		1	PRR12	19	50101153	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	7240654	50101153	9027830	61	1653											
KLK15	55554	broad.mit.edu	37	chr19	51330227	51330227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccccgggtgggggcaacGcgtgggtagcaccgcggggc	19	14	0	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:51330227G>A	ENST00000326856.4	-	4	514	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	KLK15_ENST00000301421.2_Missense_Mutation_p.R130C|KLK15_ENST00000596931.1_Missense_Mutation_p.R129C|KLK15_ENST00000598239.1_Missense_Mutation_p.R130C|KLK15_ENST00000416184.1_Intron	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	130	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGGGGGCAACGCGTGGGTAGC	0.711													False	0	False	19:51330227	0	A	51330227	G	A	51330227	3	1	20	1	0	0	0	0	1	0	0	0	8453	1087	38	1	394	1	KLK15	19	51330227	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	1229074	51330227	7798756	62	1654											
ZNF274	10782	broad.mit.edu	37	chr19	58718233	58718233	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccaggccctatatgctgaaGatggaagcctgagtgcagat	12	9	0	4			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:58718233G>T	ENST00000326804.4	+	5	862	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.D103Y|ZNF274_ENST00000424679.2_Missense_Mutation_p.D30Y	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	135					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATATGCTGAAGATGGAAGCCT	0.597													False	0	False	19:58718233	0	T	58718233	G	T	58718233	3	4	20	1	0	0	0	0	1	0	0	0	17892	942	33	3	417	3	ZNF274	19	58718233	Missense_Mutation	SNP	G	TCGA-3A-A9I5-01A-11D-A38G-08	7388006	58718233	410750	63	1655											
TSHZ2	128553	broad.mit.edu	37	chr20	51872260	51872260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagccagcgtgtccaggCgctacctgtttgagaacagc	13	12	1	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr20:51872260C>T	ENST00000371497.5	+	2	3150	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	TSHZ2_ENST00000329613.6_Missense_Mutation_p.R752C|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R752C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	755					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGTGTCCAGGCGCTACCTGTT	0.512													False	0	False	20:51872260	0	T	51872260	C	T	51872260	3	4	20	1	0	0	0	0	1	0	0	0	16707	768	27	1	2269	1	TSHZ2	20	51872260	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08		51872260	11153260	64	1656											
CACNA1I	8911	broad.mit.edu	37	chr22	40075258	40075258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcatgaagcacctggaCgacagcaacaaggaggcgca	13	11	1	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:40075258C>T	ENST00000336649.4	+	35	5220	c.5220C>T	c.(5218-5220)gaC>gaT	p.D1740D	CACNA1I_ENST00000404898.1_Silent_p.D1699D|CACNA1I_ENST00000407673.1_Silent_p.D1699D|CACNA1I_ENST00000401624.1_Silent_p.D1734D|CACNA1I_ENST00000402142.3_Silent_p.D1734D|CACNA1I_ENST00000400164.3_Silent_p.D1699D			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1734					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AGCACCTGGACGACAGCAACA	0.642													False	0	False	22:40075258	0	T	40075258	C	T	40075258	2	4	20	1	0	0	0	0	0	0	0	1	2566	535	19	1		1	CACNA1I	22	40075258	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08		40075258	11229308	65	1657											
SCUBE1	80274	broad.mit.edu	37	chr22	43625113	43625113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgtagaggatgtagccgCggtgacacaggcactggaag	15	10	0	2			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:43625113C>T	ENST00000360835.4	-	9	1175	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1		EGF-like 8; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GATGTAGCCGCGGTGACACAG	0.677											OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	22:43625113	0	T	43625113	C	T	43625113	3	4	20	1	0	0	0	0	1	0	0	0	14025	768	27	1	1973	1	SCUBE1	22	43625113	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	3549855	43625113	7679453	66	1658											
ARSA	410	broad.mit.edu	37	chr22	51064677	51064677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcaagagaccggagcagCcgcctcgggacatacgcatg	13	14	0	1			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:51064677C>T	ENST00000547307.1	-	5	1283	c.878G>A	c.(877-879)gGc>gAc	p.G293D	ARSA_ENST00000356098.5_Missense_Mutation_p.G295D|ARSA_ENST00000395621.3_Missense_Mutation_p.G295D|ARSA_ENST00000216124.5_Missense_Mutation_p.G295D|ARSA_ENST00000395619.3_Missense_Mutation_p.G295D|ARSA_ENST00000547805.1_Missense_Mutation_p.G293D|ARSA_ENST00000453344.2_Missense_Mutation_p.G209D			P15289	ARSA_HUMAN	arylsulfatase A	293			G -> D (in MLD; late-onset).|G -> S (in MLD; adult type; causes a severe reduction of enzyme activity).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	ACCGGAGCAGCCGCCTCGGGA	0.652													False	0	False	22:51064677	0	T	51064677	C	T	51064677	3	4	20	1	0	0	0	0	1	0	0	0	991	739	26	2	661	2	ARSA	22	51064677	Missense_Mutation	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08	7439564	51064677	239889	67	1659											
DMD	1756	broad.mit.edu	37	chrX	32867854	32867854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcacataccagtttttgCcctgtcaggccttcgaggag	10	11	2	0			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chrX:32867854C>T	ENST00000357033.4	-	3	383	c.177G>A	c.(175-177)ggG>ggA	p.G59G	DMD_ENST00000288447.4_Silent_p.G51G|DMD_ENST00000378677.2_Silent_p.G55G	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	59	Actin-binding.|CH 1.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAGTTTTTGCCCTGTCAGGC	0.383													False	0	True	X:32867854	0	T	32867854	C	T	32867854	2	4	20	1	0	0	0	0	0	0	0	1	4610	726	26	2		2	DMD	23	32867854	Silent	SNP	C	TCGA-3A-A9I5-01A-11D-A38G-08		32867854	122402706	68	1660											
SHROOM4	57477	broad.mit.edu	37	chrX	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-													aatactggggtggcagctccTcttcctcctcctctgcctcc					rs3747282	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chrX:50350672_50350674delTCT	ENST00000460112.3	-	5	3574_3576	c.3120_3122delAGA	c.(3118-3123)gaagag>gag	p.1040_1041EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													False	1	False	X:50350672	0	-	50350674	TCT	-	50350672	7	5	20	1	0	1	0	1	0	0	0	0	14377	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-3A-A9I5-01A-11D-A38G-08	17482818	50350672	104919888	69	1661											
ANKRD36B	57730	broad.mit.edu	37	chr2	98177318	98177318	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagctcgttgtttctgagGagacactgaaaagcaaaagg	11	8	2	3			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr2:98177318G>A	ENST00000443455.1	-	0	879							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TGTTTCTGAGGAGACACTGAA	0.299													False	0	False	2:98177318	0	A	98177318	G	A	98177318	1	1	21	0	1	0	0	0	0	0	0	0	666	1174	41	2		2	ANKRD36B	2	98177318	RNA	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		98177318	145022055	1	1662											
ATG9A	79065	broad.mit.edu	37	chr2	220088423	220088423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctccagggcccgtgggcGcaggcagaagatgaggatga	16	9	1	4			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr2:220088423G>A	ENST00000409618.1	-	10	1922	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	ATG9A_ENST00000409422.1_Missense_Mutation_p.R434C|ATG9A_ENST00000361242.4_Missense_Mutation_p.R495C|ATG9A_ENST00000396761.2_Missense_Mutation_p.R495C			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	495					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCGTGGGCGCAGGCAGAAG	0.547													False	0	True	2:220088423	0	A	220088423	G	A	220088423	3	1	21	1	0	0	0	0	1	0	0	0	1106	1087	38	1	1064	1	ATG9A	2	220088423	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	121911105	220088423	23110950	2	1663											
HDLBP	3069	broad.mit.edu	37	chr2	242189325	242189325	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgggtccccctcgatgcgGatcaaattgctcttctcact	9	13	3	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr2:242189325G>A	ENST00000391975.1	-	12	1670	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	HDLBP_ENST00000427183.2_Silent_p.I448I|HDLBP_ENST00000391976.2_Silent_p.I481I|HDLBP_ENST00000310931.4_Silent_p.I481I|HDLBP_ENST00000476807.1_5'UTR	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	481	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCTCGATGCGGATCAAATTGC	0.537													False	0	False	2:242189325	0	A	242189325	G	A	242189325	2	1	21	1	0	0	0	0	0	0	0	1	7072	1164	41	2		2	HDLBP	2	242189325	Silent	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	22100902	242189325	1010048	3	1664											
C3orf20	84077	broad.mit.edu	37	chr3	14813595	14813595	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcccaactctgtcctgagCctggaggattctgaatcagt	10	11	3	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:14813595C>A	ENST00000253697.3	+	16	2969	c.2517C>A	c.(2515-2517)agC>agA	p.S839R	C3orf20_ENST00000412910.1_Missense_Mutation_p.S717R|C3orf20_ENST00000435614.1_Missense_Mutation_p.S717R	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	839						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTGTCCTGAGCCTGGAGGATT	0.572													False	0	False	3:14813595	0	A	14813595	C	A	14813595	3	1	21	1	0	0	0	0	1	0	0	0	2229	738	26	3	2571	3	C3orf20	3	14813595	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08		14813595	183208835	4	1665											
OXSM	54995	broad.mit.edu	37	chr3	25832597	25832597	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaacagttaagaagtaaaaGgaagtttttcggaactgtgc	10	6	0	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:25832597G>T	ENST00000280701.3	+	2	185	c.86G>T	c.(85-87)aGg>aTg	p.R29M	OXSM_ENST00000420173.2_Missense_Mutation_p.R29M|OXSM_ENST00000449808.1_3'UTR	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	29					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGAAGTAAAAGGAAGTTTTTC	0.403													False	0	True	3:25832597	0	T	25832597	G	T	25832597	3	4	21	1	0	0	0	0	1	0	0	0	11403	1000	35	3	88	3	OXSM	3	25832597	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	11019002	25832597	172189833	5	1666											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	11	14	1	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572													False	0	True	3:129370592	0	A	129370592	T	A	129370592	3	1	21	1	0	0	0	0	1	0	0	0	16074	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-3A-A9I7-01A-21D-A38G-08	103537995	129370592	68651838	6	1667											
ANK2	287	broad.mit.edu	37	chr4	114280346	114280346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctgccacctgttgagacCgagcactcagttcctgagga	10	12	2	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:114280346C>T	ENST00000357077.4	+	38	10625	c.10572C>T	c.(10570-10572)acC>acT	p.T3524T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.T3491T|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3491					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGTTGAGACCGAGCACTCAG	0.473													False	0	False	4:114280346	0	T	114280346	C	T	114280346	2	4	21	1	0	0	0	0	0	0	0	1	621	639	23	1		1	ANK2	4	114280346	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08		114280346	76873930	7	1668											
TRPC3	7222	broad.mit.edu	37	chr4	122835976	122835976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtagccaatggccaggaatgGaaggcccagggccacgacca	14	12	0	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:122835976G>T	ENST00000264811.5	-	3	1499	c.1081C>A	c.(1081-1083)Cca>Aca	p.P361T	TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000379645.3_Missense_Mutation_p.P434T	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	349					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCAGGAATGGAAGGCCCAGG	0.522													False	0	False	4:122835976	0	T	122835976	G	T	122835976	3	4	21	1	0	0	0	0	1	0	0	0	16662	1174	41	3	1501	3	TRPC3	4	122835976	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	8555630	122835976	68318300	8	1669											
DDX60	55601	broad.mit.edu	37	chr4	169206628	169206628	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttggaataaaacccaaattgGgcaccatttcattggagctg	9	8	1	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:169206628G>C	ENST00000393743.3	-	11	1652	c.1361C>G	c.(1360-1362)cCc>cGc	p.P454R		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	454							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCCAAATTGGGCACCATTTC	0.318													False	0	True	4:169206628	0	C	169206628	G	C	169206628	3	2	21	1	0	0	0	0	1	0	0	0	4403	1232	43	5	3889	5	DDX60	4	169206628	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	46370652	169206628	21947648	9	1670											
FRG1	2483	broad.mit.edu	37	chr4	190874258	190874258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctccagagcagtttacgGctgtcaaattatctgattcc	8	11	2	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr4:190874258G>A	ENST00000226798.4	+	4	517	c.295G>A	c.(295-297)Gct>Act	p.A99T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	99					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCAGTTTACGGCTGTCAAATT	0.279													False	0	False	4:190874258	0	A	190874258	G	A	190874258	3	1	21	1	0	0	0	0	1	0	0	0	6088	1203	42	2	309	2	FRG1	4	190874258	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	21667630	190874258	280018	10	1671											
CDH18	1016	broad.mit.edu	37	chr5	19612555	19612555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacgtactttgaggaaagcGtggtgggttgtcattgacat	13	5	1	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:19612555G>A	ENST00000507958.1	-	8	1789	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	CDH18_ENST00000511273.1_Missense_Mutation_p.R267C|CDH18_ENST00000274170.4_Missense_Mutation_p.R267C|CDH18_ENST00000502796.1_Missense_Mutation_p.R267C|CDH18_ENST00000382275.1_Missense_Mutation_p.R267C|CDH18_ENST00000506372.1_Missense_Mutation_p.R267C			Q13634	CAD18_HUMAN	cadherin 18, type 2	267	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGAGGAAAGCGTGGTGGGTTG	0.378													False	0	False	5:19612555	0	A	19612555	G	A	19612555	3	1	21	1	0	0	0	0	1	0	0	0	3126	1145	40	1	1605	1	CDH18	5	19612555	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		19612555	161302705	11	1672											
SLC27A6	28965	broad.mit.edu	37	chr5	128326140	128326140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagaactttgtcgctacCtttgcaaacaatctaaggta	8	8	1	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:128326140C>T	ENST00000262462.4	+	4	1962	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	SLC27A6_ENST00000395266.1_Missense_Mutation_p.L318F|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L318F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	318					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTGTCGCTACCTTTGCAAACA	0.318													False	0	True	5:128326140	0	T	128326140	C	T	128326140	3	4	21	1	0	0	0	0	1	0	0	0	14610	681	24	2	966	2	SLC27A6	5	128326140	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	108713585	128326140	52589120	12	1673											
CDHR2	54825	broad.mit.edu	37	chr5	176003131	176003131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctacgtggacgagcatgCctccccccgcatccccatcg	10	18	0	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr5:176003131C>T	ENST00000510636.1	+	12	1413	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V	CDHR2_ENST00000506348.1_Missense_Mutation_p.A380V|CDHR2_ENST00000261944.5_Missense_Mutation_p.A380V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	380	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACGAGCATGCCTCCCCCCGC	0.632													False	0	False	5:176003131	0	T	176003131	C	T	176003131	3	4	21	1	0	0	0	0	1	0	0	0	3142	739	26	2	1181	2	CDHR2	5	176003131	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	47676991	176003131	4912129	13	1674											
HLA-DMB	3109	broad.mit.edu	37	chr6	32906460	32906460	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcacccctctctcctcaCgtgtcctgttggtcagtgat	8	15	4	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:32906460C>T	ENST00000416244.2	-	2	532		c.e2+1		HLA-DMB_ENST00000418107.2_Splice_Site|XXbac-BPG181M17.5_ENST00000429234.1_Splice_Site			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta						antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTCTCCTCACGTGTCCTGTT	0.582													False	0	False	6:32906460	0	T	32906460	C	T	32906460	5	4	21	1	0	0	0	0	0	0	1	0	7246	550	19	1	473	1	HLA-DMB	6	32906460	Splice_Site	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08		32906460	138208607	14	1675											
ZNF318	24149	broad.mit.edu	37	chr6	43307934	43307934	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cccaaaagaagatgatgttgGtgattccttctttacctctt	7	9	2	4			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:43307934G>C	ENST00000361428.2	-	10	3879	c.3802C>G	c.(3802-3804)Cca>Gca	p.P1268A	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1268	Lys-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATGATGTTGGTGATTCCTTC	0.403													False	0	False	6:43307934	0	C	43307934	G	C	43307934	3	2	21	1	0	0	0	0	1	0	0	0	17919	1261	44	5	3041	5	ZNF318	6	43307934	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	10401474	43307934	127807133	15	1676											
PDE10A	10846	broad.mit.edu	37	chr6	165806202	165806202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtgtgctacagtgaccGcatgcttccagttgtgataa	11	9	0	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr6:165806202G>A	ENST00000366882.1	-	17	1713	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V|PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	520					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.A520V(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TACAGTGACCGCATGCTTCCA	0.438													False	0	False	6:165806202	0	A	165806202	G	A	165806202	3	1	21	1	0	0	0	0	1	0	0	0	11698	1087	38	1	808	1	PDE10A	6	165806202	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	122498268	165806202	5308865	16	1677											
RADIL	55698	broad.mit.edu	37	chr7	4917411	4917411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccgctgcccagcatcGccggcttggcccaccacgtc	10	20	0	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:4917411G>A	ENST00000399583.3	-	2	547	c.360C>T	c.(358-360)ggC>ggT	p.G120G	RADIL_ENST00000536091.1_Silent_p.G120G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	120	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCCCAGCATCGCCGGCTTGGC	0.647													False	0	False	7:4917411	0	A	4917411	G	A	4917411	2	1	21	1	0	0	0	0	0	0	0	1	13076	1074	38	1		1	RADIL	7	4917411	Silent	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		4917411	154221252	17	1678											
DENND2A	27147	broad.mit.edu	37	chr7	140301961	140301961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactactcctcctctccacCgtagaggacggcagataatc	7	15	2	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr7:140301961C>T	ENST00000275884.6	-	2	654	c.237G>A	c.(235-237)acG>acA	p.T79T	DENND2A_ENST00000496613.1_Silent_p.T79T|DENND2A_ENST00000537639.1_Silent_p.T79T|DENND2A_ENST00000492720.1_Silent_p.T79T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	79										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCTCTCCACCGTAGAGGACG	0.522													False	0	False	7:140301961	0	T	140301961	C	T	140301961	2	4	21	1	0	0	0	0	0	0	0	1	4459	639	23	1		1	DENND2A	7	140301961	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	135384550	140301961	18836702	18	1679											
ARHGEF10	9639	broad.mit.edu	37	chr8	1841800	1841800	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactacgtagatgctcttaaGaggattttggaggtacttaa	10	5	1	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:1841800G>A	ENST00000518288.1	+	13	1486	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	ARHGEF10_ENST00000520359.1_Silent_p.K378K|ARHGEF10_ENST00000398560.1_Silent_p.K402K|ARHGEF10_ENST00000349830.3_Silent_p.K416K|ARHGEF10_ENST00000398564.1_Silent_p.K441K|ARHGEF10_ENST00000262112.6_Silent_p.K441K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	441	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATGCTCTTAAGAGGATTTTGG	0.313													False	0	False	8:1841800	0	A	1841800	G	A	1841800	2	1	21	1	0	0	0	0	0	0	0	1	896	933	33	2		2	ARHGEF10	8	1841800	Silent	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		1841800	144522222	19	1680											
DDHD2	23259	broad.mit.edu	37	chr8	38110300	38110300	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggagtggaatttgagccaAtgctgatcccacatcataaa	9	9	1	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:38110300A>G	ENST00000397166.2	+	14	2203	c.1678A>G	c.(1678-1680)Atg>Gtg	p.M560V	DDHD2_ENST00000520272.2_Missense_Mutation_p.M560V|DDHD2_ENST00000517385.1_Missense_Mutation_p.M179V|DDHD2_ENST00000529845.1_Missense_Mutation_p.M11V	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	560	DDHD.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			ATTTGAGCCAATGCTGATCCC	0.453													False	0	False	8:38110300	0	G	38110300	A	G	38110300	3	3	21	1	0	0	0	0	1	0	0	0	4352	101	4	4	1790	4	DDHD2	8	38110300	Missense_Mutation	SNP	A	TCGA-3A-A9I7-01A-21D-A38G-08	36268500	38110300	108253722	20	1681											
GGH	8836	broad.mit.edu	37	chr8	63938741	63938741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaagttcagcggcattgCcacgtcaacagtatctgtgg	12	9	3	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr8:63938741C>T	ENST00000260118.6	-	5	877	c.475G>A	c.(475-477)Gca>Aca	p.A159T	GGH_ENST00000518113.1_5'UTR	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	159	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	AGCGGCATTGCCACGTCAACA	0.418													False	0	False	8:63938741	0	T	63938741	C	T	63938741	3	4	21	1	0	0	0	0	1	0	0	0	6402	739	26	2	501	2	GGH	8	63938741	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	25828441	63938741	82425281	21	1682											
CDKN2A	1029	broad.mit.edu	37	chr9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcccgggcagcgtcgtGcacgggtcgggtgagagtgg	19	12	0	1	rs121913385		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr9:21971111G>A	ENST00000579755.1	-	2	582	c.290C>T	c.(289-291)gCa>gTa	p.A97V	CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	False	9:21971111	0	A	21971111	G	A	21971111	3	1	21	1	0	0	0	0	1	0	0	0	3184	1319	46	2	231	2	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		21971111	119242320	22	1683											
PITRM1	10531	broad.mit.edu	37	chr10	3189836	3189836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctgccctgatggatgcGtacaggtgcccagagtcagg	15	12	1	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr10:3189836G>A	ENST00000380989.2	-	19	2204	c.2166C>T	c.(2164-2166)taC>taT	p.Y722Y	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.Y279Y|PITRM1_ENST00000224949.4_Silent_p.Y721Y|PITRM1_ENST00000451104.2_Silent_p.Y623Y|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000464395.1_5'UTR	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	623					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGATGGATGCGTACAGGTGCC	0.587													False	0	False	10:3189836	0	A	3189836	G	A	3189836	2	1	21	1	0	0	0	0	0	0	0	1	12022	1140	40	1		1	PITRM1	10	3189836	Silent	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		3189836	132344911	23	1684											
SLC18A3	6572	broad.mit.edu	37	chr10	50819671	50819671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacattgccgtggtggcCggcgcgctcaccacctgtaa	11	16	1	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr10:50819671C>T	ENST00000374115.3	+	1	1325	c.885C>T	c.(883-885)gcC>gcT	p.A295A	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	295					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.A295A(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCGTGGTGGCCGGCGCGCTCA	0.642													False	0	False	10:50819671	0	T	50819671	C	T	50819671	2	4	21	1	0	0	0	0	0	0	0	1	14508	639	23	1		1	SLC18A3	10	50819671	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	47629835	50819671	84715076	24	1685											
C10orf12	26148	broad.mit.edu	37	chr10	98741564	98741565	+	Frame_Shift_Ins	INS	-	-	A													agatgatatcaacctccatcINSaagacagctcggaaaagtaa							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr10:98741564_98741565insA	ENST00000286067.2	+	1	524_525	c.417_418insA	c.(418-420)aagfs	p.K140fs		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	140										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAACCTCCATCAAGACAGCTCG	0.436													False	2	False	10:98741564	0	A	98741565	-	A	98741564	7	5	21	1	0	1	1	0	0	0	0	0	1597	816	29	0	419	0	C10orf12	10	98741564	Frame_Shift_Ins	INS	-	TCGA-3A-A9I7-01A-21D-A38G-08	47921893	98741564	36793183	25	1686											
OVOL1	5017	broad.mit.edu	37	chr11	65554913	65554913	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggaactggagcgagctcccCgacgaggagcgcggcgagat	17	11	0	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr11:65554913C>G	ENST00000335987.3	+	1	421	c.69C>G	c.(67-69)ccC>ccG	p.P23P		NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	23					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GCGAGCTCCCCGACGAGGAGC	0.721													False	0	True	11:65554913	0	G	65554913	C	G	65554913	2	3	21	1	0	0	0	0	0	0	0	1	11394	639	23	5		5	OVOL1	11	65554913	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08		65554913	69451603	26	1687											
LRP5	4041	broad.mit.edu	37	chr11	68197125	68197125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacaccacggtgctcatgCccagtccacctcgtgctcct	10	17	1	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr11:68197125C>T	ENST00000294304.7	+	17	3826	c.3720C>T	c.(3718-3720)tgC>tgT	p.C1240C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1240	EGF-like 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGTGCTCATGCCCAGTCCACC	0.572													False	0	True	11:68197125	0	T	68197125	C	T	68197125	2	4	21	1	0	0	0	0	0	0	0	1	9022	747	26	2		2	LRP5	11	68197125	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	2642212	68197125	66809391	27	1688											
SLC6A13	6540	broad.mit.edu	37	chr12	368930	368930	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagaattctatacatctatgGgactccccagaggggccgta	10	11	2	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:368930G>C	ENST00000436453.1	-	2	341	c.289C>G	c.(289-291)Cca>Gca	p.P97A	SLC6A13_ENST00000445055.2_Intron|SLC6A13_ENST00000343164.4_Intron	NM_001243392.1	NP_001230321.1	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	0					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			tacatctatgGGACTCCCCAG	0.517													False	0	False	12:368930	0	C	368930	G	C	368930	3	2	21	1	0	0	0	0	1	0	0	0	14756	1247	43	5		5	SLC6A13	12	368930	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		368930	133482965	28	1689											
CACNA1C	775	broad.mit.edu	37	chr12	2797804	2797804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcccatccatccactgCggctcctgggctgagaccac	9	17	0	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:2797804C>T	ENST00000399655.1	+	46	6241	c.5976C>T	c.(5974-5976)tgC>tgT	p.C1992C	CACNA1C_ENST00000399644.1_Silent_p.C1992C|CACNA1C_ENST00000399638.1_Silent_p.C2020C|CACNA1C_ENST00000399591.1_Silent_p.C2000C|CACNA1C_ENST00000335762.5_Silent_p.C2017C|CACNA1C_ENST00000399603.1_Silent_p.C1992C|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399629.1_Silent_p.C2009C|CACNA1C_ENST00000402845.3_Silent_p.C2011C|CACNA1C_ENST00000399606.1_Silent_p.C2012C|CACNA1C_ENST00000399595.1_Silent_p.C2000C|CACNA1C_ENST00000399637.1_Silent_p.C2011C|CACNA1C_ENST00000399597.1_Silent_p.C1992C|CACNA1C_ENST00000327702.7_Silent_p.C2027C|CACNA1C_ENST00000399641.1_Silent_p.C1992C|CACNA1C_ENST00000399617.1_Silent_p.C2027C|CACNA1C_ENST00000399634.1_Silent_p.C2063C|CACNA1C_ENST00000347598.4_Silent_p.C2040C|CACNA1C_ENST00000399621.1_Silent_p.C2011C|CACNA1C_ENST00000399649.1_Silent_p.C1998C|CACNA1C_ENST00000344100.3_Silent_p.C2033C|CACNA1C_ENST00000406454.3_Silent_p.C2063C|CACNA1C_ENST00000399601.1_Silent_p.C1992C	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2075					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCATCCACTGCGGCTCCTGGG	0.721													False	0	False	12:2797804	0	T	2797804	C	T	2797804	2	4	21	1	0	0	0	0	0	0	0	1	2560	776	27	1		1	CACNA1C	12	2797804	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	2428874	2797804	131054091	29	1690											
RAD51AP1	10635	broad.mit.edu	37	chr12	4653066	4653066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaagagaaaacccctaaaAaaaggtgagaggtaagacat	9	6	0	3			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:4653066A>G	ENST00000228843.9	+	3	255	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E	RAD51AP1_ENST00000321524.7_Missense_Mutation_p.K69E|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.K69E|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.K69E|RAD51AP1_ENST00000543041.1_5'UTR	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	69					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AACCCCTAAAAAAAGGTGAGA	0.353													False	0	True	12:4653066	0	G	4653066	A	G	4653066	3	3	21	1	0	0	0	0	1	0	0	0	13065	15	1	4	215	4	RAD51AP1	12	4653066	Missense_Mutation	SNP	A	TCGA-3A-A9I7-01A-21D-A38G-08	1855262	4653066	129198829	30	1691											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	21	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	20745218	25398284	108453611	31	1692											
PTHLH	5744	broad.mit.edu	37	chr12	28116383	28116383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggcagagcgagttcgcCgttttttcttttcctgctcc	9	13	1	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:28116383C>T	ENST00000535992.1	-	3	768	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	PTHLH_ENST00000538310.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000354417.3_Missense_Mutation_p.R141Q|PTHLH_ENST00000395868.3_Missense_Mutation_p.R141Q|PTHLH_ENST00000395872.1_Missense_Mutation_p.R141Q|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000539239.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000201015.4_Missense_Mutation_p.R141Q|PTHLH_ENST00000545234.1_Missense_Mutation_p.R141Q			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	141					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GCGAGTTCGCCGTTTTTTCTT	0.542													False	0	False	12:28116383	0	T	28116383	C	T	28116383	3	4	21	1	0	0	0	0	1	0	0	0	12838	652	23	1	123	1	PTHLH	12	28116383	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	2718099	28116383	105735512	32	1693											
PDZRN4	29951	broad.mit.edu	37	chr12	41966629	41966629	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagcttgagtgtcagaataTcatgcaggctcacaggctcc	11	10	3	3			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr12:41966629T>A	ENST00000298919.7	+	10	1656	c.1268T>A	c.(1267-1269)aTc>aAc	p.I423N	PDZRN4_ENST00000402685.2_Missense_Mutation_p.I683N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.I425N			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	683	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGTCAGAATATCATGCAGGCT	0.448													False	0	False	12:41966629	0	A	41966629	T	A	41966629	3	1	21	1	0	0	0	0	1	0	0	0	11778	1435	50	5	2159	5	PDZRN4	12	41966629	Missense_Mutation	SNP	T	TCGA-3A-A9I7-01A-21D-A38G-08	13850246	41966629	91885266	33	1694											
THBS1	7057	broad.mit.edu	37	chr15	39881506	39881506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccccccacgcttcaccgGctcacagcccttcggccagg	9	21	2	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr15:39881506G>A	ENST00000260356.5	+	12	2042	c.1877G>A	c.(1876-1878)gGc>gAc	p.G626D		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	626	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CGCTTCACCGGCTCACAGCCC	0.587													False	0	False	15:39881506	0	A	39881506	G	A	39881506	3	1	21	1	0	0	0	0	1	0	0	0	15935	1203	42	2	1919	2	THBS1	15	39881506	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		39881506	62649886	34	1695											
ZNF747	65988	broad.mit.edu	37	chr16	30544358	30544358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacagctgctccaacccgGcaaagggggcttggggagcc	16	12	0	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr16:30544358G>A	ENST00000569360.1	-	3	627	c.455C>T	c.(454-456)gCc>gTc	p.A152V	ZNF747_ENST00000535210.1_Missense_Mutation_p.A152V|ZNF747_ENST00000568028.1_Missense_Mutation_p.A152V|ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000252799.3_3'UTR			Q9BV97	ZN747_HUMAN	zinc finger protein 747	40					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			kidney(1)|lung(3)|prostate(1)	5						CTCCAACCCGGCAAAGGGGGC	0.682													False	0	False	16:30544358	0	A	30544358	G	A	30544358	3	1	21	1	0	0	0	0	1	0	0	0	18212	1218	42	2		2	ZNF747	16	30544358	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		30544358	59810395	35	1696											
CLEC10A	10462	broad.mit.edu	37	chr17	6981351	6981353	+	In_Frame_Del	DEL	AGG	AGG	-													cacagatgatgaccagcagcAggaggccgaggcccagggac					rs732828	byFrequency	TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:6981351_6981353delAGG	ENST00000576617.1	-	3	416_418	c.147_149delCCT	c.(145-150)ctcctg>ctg	p.49_50LL>L	CLEC10A_ENST00000571664.1_In_Frame_Del_p.49_50LL>L|CLEC10A_ENST00000416562.2_In_Frame_Del_p.49_50LL>L|CLEC10A_ENST00000254868.4_In_Frame_Del_p.49_50LL>L			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	49					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GACCAGCAGCAGGAGGCCGAGGC	0.571													False	2	True	17:6981351	0	-	6981353	AGG	-	6981351	7	5	21	1	0	1	0	1	0	0	0	0	3518	188	7	0	838	0	CLEC10A	17	6981351	In_Frame_Del	DEL	AGG	TCGA-3A-A9I7-01A-21D-A38G-08		6981351	74213859	36	1697											
TOM1L2	146691	broad.mit.edu	37	chr17	17766051	17766051	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccccacatacgtcttgCgctgctcagccaaggagttt	12	13	2	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:17766051C>T	ENST00000581396.1	-	10	1142	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	TOM1L2_ENST00000540946.1_Missense_Mutation_p.R301H|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R354H|TOM1L2_ENST00000379504.3_Missense_Mutation_p.R399H|TOM1L2_ENST00000542206.1_Missense_Mutation_p.R251H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R354H|TOM1L2_ENST00000478943.1_Missense_Mutation_p.R132H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.R346H	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	399					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ATACGTCTTGCGCTGCTCAGC	0.527													False	0	False	17:17766051	0	T	17766051	C	T	17766051	3	4	21	1	0	0	0	0	1	0	0	0	16435	768	27	1	347	1	TOM1L2	17	17766051	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	10784700	17766051	63429159	37	1698											
KRTAP1-5	83895	broad.mit.edu	37	chr17	39183129	39183129	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccaatgccacagccAgttccgcaggagctgatctg	9	16	1	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:39183129A>G	ENST00000361883.5	-	1	325	c.279T>C	c.(277-279)acT>acC	p.T93T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	93	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TGCCACAGCCAGTTCCGCAGG	0.637													False	0	False	17:39183129	0	G	39183129	A	G	39183129	2	3	21	1	0	0	0	0	0	0	0	1	8554	175	7	4		4	KRTAP1-5	17	39183129	Silent	SNP	A	TCGA-3A-A9I7-01A-21D-A38G-08	21417078	39183129	42012081	38	1699											
FKBP10	60681	broad.mit.edu	37	chr17	39969498	39969498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcgctaccactacaacgGcacttttgaagatggcaaga	10	10	0	3			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:39969498G>A	ENST00000321562.4	+	1	316	c.212G>A	c.(211-213)gGc>gAc	p.G71D		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	71	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CACTACAACGGCACTTTTGAA	0.592													False	0	False	17:39969498	0	A	39969498	G	A	39969498	3	1	21	1	0	0	0	0	1	0	0	0	5942	1203	42	2	214	2	FKBP10	17	39969498	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	786369	39969498	41225712	39	1700											
CDC27	996	broad.mit.edu	37	chr17	45234708	45234708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagttgctaaagttctgtAaagatgtgaatttaaatgtt	9	3	1	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:45234708A>G	ENST00000066544.3	-	6	611	c.518T>C	c.(517-519)tTa>tCa	p.L173S	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.L173S|CDC27_ENST00000446365.2_Missense_Mutation_p.L112S|CDC27_ENST00000527547.1_Missense_Mutation_p.L173S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	173					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.L173S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AAAGTTCTGTAAAGATGTGAA	0.383													False	0	True	17:45234708	0	G	45234708	A	G	45234708	3	3	21	1	0	0	0	0	1	0	0	0	3089	372	13	4	2030	4	CDC27	17	45234708	Missense_Mutation	SNP	A	TCGA-3A-A9I7-01A-21D-A38G-08	5265210	45234708	35960502	40	1701											
RPTOR	57521	broad.mit.edu	37	chr17	78923328	78923328	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggcaggggctctcggaCatgctgccaacgacgcgagg	17	12	1	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr17:78923328C>G	ENST00000306801.3	+	28	3713	c.3351C>G	c.(3349-3351)gaC>gaG	p.D1117E	RPTOR_ENST00000544334.2_Missense_Mutation_p.D959E|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1117					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCTCTCGGACATGCTGCCAA	0.617													False	0	False	17:78923328	0	G	78923328	C	G	78923328	3	3	21	1	0	0	0	0	1	0	0	0	13744	477	17	5	3461	5	RPTOR	17	78923328	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	33688620	78923328	2271882	41	1702											
APCDD1	147495	broad.mit.edu	37	chr18	10485496	10485496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcgcctgtcggatcatctAtcggtcagacgagcaccacc	9	15	3	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr18:10485496A>G	ENST00000355285.5	+	4	1166	c.812A>G	c.(811-813)tAt>tGt	p.Y271C	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1						hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CGGATCATCTATCGGTCAGAC	0.602													False	0	False	18:10485496	0	G	10485496	A	G	10485496	3	3	21	1	0	0	0	0	1	0	0	0	767	449	16	4	826	4	APCDD1	18	10485496	Missense_Mutation	SNP	A	TCGA-3A-A9I7-01A-21D-A38G-08		10485496	67591752	42	1703											
C18orf8	29919	broad.mit.edu	37	chr18	21110072	21110072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagttcctgcagtaccaCgtcctcagcgactccaaacc	6	17	2	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr18:21110072C>T	ENST00000269221.3	+	17	1685	c.1575C>T	c.(1573-1575)caC>caT	p.H525H	C18orf8_ENST00000591367.1_3'UTR|C18orf8_ENST00000590868.1_Silent_p.H477H	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	525	Mic1.									endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCAGTACCACGTCCTCAGCG	0.393													False	0	False	18:21110072	0	T	21110072	C	T	21110072	2	4	21	1	0	0	0	0	0	0	0	1	1922	535	19	1		1	C18orf8	18	21110072	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	10624576	21110072	56967176	43	1704											
ZNF521	25925	broad.mit.edu	37	chr18	22806967	22806967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgagttcttcttctccccGctatgcacctgctccatgtg	7	15	3	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr18:22806967G>A	ENST00000361524.3	-	4	1063	c.915C>T	c.(913-915)agC>agT	p.S305S	ZNF521_ENST00000538137.2_Silent_p.S305S|ZNF521_ENST00000584787.1_Silent_p.S85S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	305					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCTTCTCCCCGCTATGCACCT	0.547			T	PAX5	ALL								False	0	True	18:22806967	0	A	22806967	G	A	22806967	2	1	21	1	0	0	0	0	0	0	0	1	18048	1078	38	1		1	ZNF521	18	22806967	Silent	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	1696895	22806967	55270281	44	1705											
ANKRD24	170961	broad.mit.edu	37	chr19	4217177	4217177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggaccacaaacatggagGccacgggctctagggccaca	13	13	1	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:4217177G>A	ENST00000600132.1	+	18	2296	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	ANKRD24_ENST00000262970.5_Missense_Mutation_p.A764T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A674T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	674										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AAACATGGAGGCCACGGGCTC	0.612													False	0	False	19:4217177	0	A	4217177	G	A	4217177	3	1	21	1	0	0	0	0	1	0	0	0	653	1203	42	2	2086	2	ANKRD24	19	4217177	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08		4217177	54911806	45	1706											
ZNF763	284390	broad.mit.edu	37	chr19	12088187	12088187	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgtgtctgtattttaggGaaaaagtggaaagaccagaa	11	4	2	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:12088187G>A	ENST00000343949.5	+	3	296	c.141G>A	c.(139-141)ggG>ggA	p.G47G	ZNF763_ENST00000538752.1_Splice_Site_p.G64G|ZNF763_ENST00000358987.3_Splice_Site_p.G44G|ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Splice_Site_p.G64G|ZNF763_ENST00000545530.1_Intron	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						GTATTTTAGGGAAAAAGTGGA	0.353													False	0	True	19:12088187	0	A	12088187	G	A	12088187	5	1	21	1	0	0	0	0	0	0	1	0	18219	1188	41	2	151	2	ZNF763	19	12088187	Splice_Site	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	7871010	12088187	47040796	46	1707											
RYR1	6261	broad.mit.edu	37	chr19	38958285	38958285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctcgttgtgaccgggtgCgcatcttccgggcagagaaa	14	10	2	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:38958285C>T	ENST00000355481.4	+	25	3345	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	RYR1_ENST00000360985.3_Missense_Mutation_p.R1072C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1072C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1072	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1072C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGACCGGGTGCGCATCTTCCG	0.572													False	0	False	19:38958285	0	T	38958285	C	T	38958285	3	4	21	1	0	0	0	0	1	0	0	0	13847	768	27	1	3312	1	RYR1	19	38958285	Missense_Mutation	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	26870098	38958285	20170698	47	1708											
NAPSA	9476	broad.mit.edu	37	chr19	50861863	50861863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatccgaggtccgctccgcGagtgcgagcgcgcgccaggc	15	17	0	0			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:50861863G>A	ENST00000253719.2	-	9	1418	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	404					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCGCTCCGCGAGTGCGAGCG	0.697													False	0	False	19:50861863	0	A	50861863	G	A	50861863	3	1	21	1	0	0	0	0	1	0	0	0	10233	1058	37	1	56	1	NAPSA	19	50861863	Missense_Mutation	SNP	G	TCGA-3A-A9I7-01A-21D-A38G-08	11903578	50861863	8267120	48	1709											
LILRB4	0	broad.mit.edu	37	chr19	55179374	55179374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctacgcccagctgcacagCtttaccctcagacagaaggc	8	16	1	2			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr19:55179374C>T	ENST00000391736.1	+	14	1566	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	LILRB4_ENST00000430952.2_Silent_p.S416S|LILRB4_ENST00000391734.3_Silent_p.S364S|LILRB4_ENST00000270452.2_Silent_p.S417S|LILRB4_ENST00000391733.3_Silent_p.S418S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	417						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCTGCACAGCTTTACCCTCA	0.622													False	0	True	19:55179374	0	T	55179374	C	T	55179374	2	4	21	1	0	0	0	0	0	0	0	1	8845	796	28	2		2	LILRB4	19	55179374	Silent	SNP	C	TCGA-3A-A9I7-01A-21D-A38G-08	4317511	55179374	3949609	49	1710											
DONSON	29980	broad.mit.edu	37	chr21	34958462	34958463	+	Frame_Shift_Ins	INS	-	-	AGATCGGAAGA													ttttgaggacggaatatcagINSgctcggagaatgatacatgt							TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chr21:34958462_34958463insAGATCGGAAGA	ENST00000303113.6	-	3	455_456	c.427_428insTCTTCCGATCT	c.(427-429)cctfs	p.P143fs	DONSON_ENST00000432378.1_Frame_Shift_Ins_p.P143fs|AP000304.12_ENST00000429238.1_Frame_Shift_Ins_p.-104fs|DONSON_ENST00000303071.5_Frame_Shift_Ins_p.P143fs|DONSON_ENST00000453626.1_Frame_Shift_Ins_p.P143fs			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	143					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CGGAATATCAGGCTCGGAGAAT	0.386											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	21:34958462	0	AGATCGGAAGA	34958463	-	AGATCGGAAGA	34958462	7	5	21	1	0	1	1	0	0	0	0	0	4736	1000	35	0	1304	0	DONSON	21	34958462	Frame_Shift_Ins	INS	-	TCGA-3A-A9I7-01A-21D-A38G-08		34958462	13171433	50	1711											
FAM104B	90736	broad.mit.edu	37	chrX	55185648	55185648	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttgccctctttactgccatTtcttcttcttttcctgaaaa	4	12	4	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chrX:55185648T>A	ENST00000425133.2	-	2	72	c.34A>T	c.(34-36)Aat>Tat	p.N12Y	FAM104B_ENST00000477847.2_Missense_Mutation_p.N9Y|FAM104B_ENST00000332132.4_Missense_Mutation_p.N12Y|FAM104B_ENST00000489298.1_Missense_Mutation_p.N11Y|FAM104B_ENST00000472571.2_Missense_Mutation_p.N12Y|FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000358460.4_Missense_Mutation_p.N12Y	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	12										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TTACTGCCATTTCTTCTTCTT	0.373													False	0	True	X:55185648	0	A	55185648	T	A	55185648	3	1	21	1	0	0	0	0	1	0	0	0	5422	1841	64	5	429	5	FAM104B	23	55185648	Missense_Mutation	SNP	T	TCGA-3A-A9I7-01A-21D-A38G-08		55185648	100084912	51	1712											
MAMLD1	10046	broad.mit.edu	37	chrX	149639651	149639651	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagcagcagcagcaAcagcagcagcagcctgacca	11	15	0	1			TCGA-3A-A9I7-01A-21D-A38G-08	TCGA-3A-A9I7-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b47f6bb9-23ad-4f47-bb37-b232b97a1ddc	c1a3fec7-91d6-4675-9cc3-398269c967c6	g.chrX:149639651A>G	ENST00000370401.2	+	4	2116	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	MAMLD1_ENST00000455522.2_Silent_p.Q83Q|MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000426613.2_Silent_p.Q577Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	602	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					agcagcagcaacagcagcagc	0.602													False	0	True	X:149639651	0	G	149639651	A	G	149639651	2	3	21	1	0	0	0	0	0	0	0	1	9275	40	2	4		4	MAMLD1	23	149639651	Silent	SNP	A	TCGA-3A-A9I7-01A-21D-A38G-08	94454003	149639651	5630909	52	1713											
ESPN	83715	broad.mit.edu	37	chr1	6505817	6505879	+	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-													gggcacgattgggaagcccaCacccccaccacccccaccca					rs139266211	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	-	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENST00000377828.1	+	7	1454_1516	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca	p.PPPPPPSFPPPPPPPGTQLPP430del	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	430	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGGAAGcccacacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgcccccacccccacc	0.65													False	1	True	1:6505817	0	-	6505879	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	6505817	7	5	22	1	0	1	0	1	0	0	0	0	5286	478	17	0	1312	0	ESPN	1	6505817	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	TCGA-3A-A9I9-01A-11D-A38G-08		6505817	242744804	1	1714											
PUM1	9698	broad.mit.edu	37	chr1	31409636	31409636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctcatcgatgagcacagCgcgctccgtacgtgaggcgt	12	14	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:31409636C>T	ENST00000373747.3	-	21	3391	c.3292G>A	c.(3292-3294)Gct>Act	p.A1098T	PUM1_ENST00000257075.5_Missense_Mutation_p.A1095T|PUM1_ENST00000426105.2_Missense_Mutation_p.A1097T|PUM1_ENST00000424085.2_Missense_Mutation_p.A853T|PUM1_ENST00000423018.2_Missense_Mutation_p.A953T|PUM1_ENST00000373741.4_Missense_Mutation_p.A1133T|PUM1_ENST00000440538.2_Missense_Mutation_p.A1071T|PUM1_ENST00000373742.2_Missense_Mutation_p.A1036T	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1095	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATGAGCACAGCGCGCTCCGTA	0.507													False	0	True	1:31409636	0	T	31409636	C	T	31409636	3	4	22	1	0	0	0	0	1	0	0	0	12904	768	27	1	285	1	PUM1	1	31409636	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	24903819	31409636	217840985	2	1715											
THRAP3	9967	broad.mit.edu	37	chr1	36752630	36752630	+	Missense_Mutation	SNP	C	C	T													tgaggcggcggtcaccccgtCctagccccgtgccaaaacct							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:36752630C>T	ENST00000354618.5	+	4	1023	c.799C>T	c.(799-801)Cct>Tct	p.P267S	THRAP3_ENST00000469141.2_Missense_Mutation_p.P267S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	267	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCACCCCGTCCTAGCCCCGT	0.617			T	USP6	aneurysmal bone cysts								False	0	False	1:36752630	0	T	36752630	C	T	36752630	3	4	22	1	0	0	0	0	1	0	0	0	15956	855	30	2	805	2	THRAP3	1	36752630	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	5342994	36752630	212497991	3	1716	14	2									
THRAP3	9967	broad.mit.edu	37	chr1	36752631	36752631	+	Missense_Mutation	SNP	C	C	T													gaggcggcggtcaccccgtcCtagccccgtgccaaaaccta							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:36752631C>T	ENST00000354618.5	+	4	1024	c.800C>T	c.(799-801)cCt>cTt	p.P267L	THRAP3_ENST00000469141.2_Missense_Mutation_p.P267L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	267	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCACCCCGTCCTAGCCCCGTG	0.617			T	USP6	aneurysmal bone cysts								False	0	False	1:36752631	0	T	36752631	C	T	36752631	3	4	22	1	0	0	0	0	1	0	0	0	15956	681	24	2	806	2	THRAP3	1	36752631	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	1	36752631	212497990	4	1717	14	2									
CLCC1	23155	broad.mit.edu	37	chr1	109477302	109477302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgttcctctagccacagGggctgctgaccggatcctgt	13	12	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:109477302G>A	ENST00000369971.2	-	11	1775	c.1646C>T	c.(1645-1647)cCc>cTc	p.P549L	CLCC1_ENST00000415331.1_Missense_Mutation_p.P499L|CLCC1_ENST00000482889.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369968.2_Missense_Mutation_p.P364L|CLCC1_ENST00000302500.4_Missense_Mutation_p.P428L|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.P549L|CLCC1_ENST00000348264.2_Missense_Mutation_p.P364L|CLCC1_ENST00000369969.2_Missense_Mutation_p.P428L|CLCC1_ENST00000369970.3_Missense_Mutation_p.P499L	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	549						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CTAGCCACAGGGGCTGCTGAC	0.547													False	0	True	1:109477302	0	A	109477302	G	A	109477302	3	1	22	1	0	0	0	0	1	0	0	0	3483	1232	43	2	13	2	CLCC1	1	109477302	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	72724671	109477302	139773319	5	1718											
WDR3	10885	broad.mit.edu	37	chr1	118477263	118477263	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaagcagctatcactaccttGaagtatgatcagctaggagg	10	8	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:118477263G>C	ENST00000349139.4	+	3	386	c.339G>C	c.(337-339)ttG>ttC	p.L113F	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	113						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TCACTACCTTGAAGTATGATC	0.478													False	0	False	1:118477263	0	C	118477263	G	C	118477263	3	2	22	1	0	0	0	0	1	0	0	0	17369	1281	45	5	345	5	WDR3	1	118477263	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	8999961	118477263	130773358	6	1719											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	22	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-3A-A9I9-01A-11D-A38G-08	34194252	152671515	96579106	7	1720											
CFH	3075	broad.mit.edu	37	chr1	196695962	196695962	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctttcttcccctccttatTactatggagattcagtggaa	7	10	2	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:196695962T>C	ENST00000367429.4	+	14	2368	c.2128T>C	c.(2128-2130)Tac>Cac	p.Y710H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	710	Sushi 12.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCCTCCTTATTACTATGGAGA	0.393													False	0	False	1:196695962	0	C	196695962	T	C	196695962	3	2	22	1	0	0	0	0	1	0	0	0	3306	1754	61	4	2200	4	CFH	1	196695962	Missense_Mutation	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08	44024447	196695962	52554659	8	1721											
LAMB3	3914	broad.mit.edu	37	chr1	209799171	209799171	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcattgcggagtctacCaaagcgcagggcctgctccc	14	13	1	0	rs35794952		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:209799171C>G	ENST00000391911.1	-	13	2187	c.1798G>C	c.(1798-1800)Ggt>Cgt	p.G600R	LAMB3_ENST00000367030.3_Missense_Mutation_p.G600R|LAMB3_ENST00000356082.4_Missense_Mutation_p.G600R	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	600	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CGGAGTCTACCAAAGCGCAGG	0.632													False	0	True	1:209799171	0	G	209799171	C	G	209799171	3	3	22	1	0	0	0	0	1	0	0	0	8663	594	21	5	1760	5	LAMB3	1	209799171	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	13103209	209799171	39451450	9	1722											
OBSCN	84033	broad.mit.edu	37	chr1	228562337	228562337	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctctgccaccctcaAgaacttccagcttctgacca	4	18	4	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:228562337A>G	ENST00000570156.2	+	108	25492	c.25418A>G	c.(25417-25419)aAg>aGg	p.K8473R	OBSCN_ENST00000366707.4_Missense_Mutation_p.K5150R|OBSCN_ENST00000422127.1_Missense_Mutation_p.K7516R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7516					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCACCCTCAAGAACTTCCAG	0.622													False	0	False	1:228562337	0	G	228562337	A	G	228562337	3	3	22	1	0	0	0	0	1	0	0	0	10880	72	3	4	24139	4	OBSCN	1	228562337	Missense_Mutation	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	18763166	228562337	20688284	10	1723											
OR2B11	127623	broad.mit.edu	37	chr1	247614391	247614391	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagcccccttcatatctttAtttctcagggtgtaggtgaa	9	9	3	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:247614391A>G	ENST00000318749.6	-	1	917	c.894T>C	c.(892-894)aaT>aaC	p.N298N		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCATATCTTTATTTCTCAGGG	0.473													False	0	True	1:247614391	0	G	247614391	A	G	247614391	2	3	22	1	0	0	0	0	0	0	0	1	11056	446	16	4		4	OR2B11	1	247614391	Silent	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	19052054	247614391	1636230	11	1724											
TMEM214	54867	broad.mit.edu	37	chr2	27261588	27261588	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggtacagaagtctttgcaaGaaaccattcagtccctcaag	8	10	3	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:27261588G>C	ENST00000238788.9	+	12	1374	c.1312G>C	c.(1312-1314)Gaa>Caa	p.E438Q	TMEM214_ENST00000404032.3_Missense_Mutation_p.E393Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	438						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTCTTTGCAAGAAACCATTCA	0.512													False	0	True	2:27261588	0	C	27261588	G	C	27261588	3	2	22	1	0	0	0	0	1	0	0	0	16219	943	33	5	1358	5	TMEM214	2	27261588	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08		27261588	215937785	12	1725											
PRKD3	23683	broad.mit.edu	37	chr2	37520399	37520399	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcatacatgccaaagaAtccacactctggaaactgag	7	10	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:37520399A>C	ENST00000379066.1	-	3	1066	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	PRKD3_ENST00000234179.2_Missense_Mutation_p.F102V			O94806	KPCD3_HUMAN	protein kinase D3	102					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATGCCAAAGAATCCACACTCT	0.333													False	0	False	2:37520399	0	C	37520399	A	C	37520399	3	2	22	1	0	0	0	0	1	0	0	0	12596	101	4	4	2436	4	PRKD3	2	37520399	Missense_Mutation	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	10258811	37520399	205678974	13	1726											
SOCS5	0	broad.mit.edu	37	chr2	46987120	46987120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggactttcccttttagccTgcagtatatctgtcgcgcgg	10	11	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:46987120T>C	ENST00000306503.5	+	2	1623	c.1451T>C	c.(1450-1452)cTg>cCg	p.L484P	SOCS5_ENST00000394861.2_Missense_Mutation_p.L484P	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	484	SOCS box.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCTTTTAGCCTGCAGTATATC	0.398													False	0	False	2:46987120	0	C	46987120	T	C	46987120	3	2	22	1	0	0	0	0	1	0	0	0	14997	1580	55	4	1453	4	SOCS5	2	46987120	Missense_Mutation	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08	9466721	46987120	196212253	14	1727											
SMEK2	57223	broad.mit.edu	37	chr2	55795477	55795477	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatctttaagtccaattatCcgcctcataaagcgaagggc	7	11	3	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:55795477C>T	ENST00000272313.5	-	11	1860	c.1533G>A	c.(1531-1533)cgG>cgA	p.R511R	SMEK2_ENST00000345102.5_Silent_p.R596R|SMEK2_ENST00000407823.3_Silent_p.R564R	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	574						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTCCAATTATCCGCCTCATAA	0.313													False	0	False	2:55795477	0	T	55795477	C	T	55795477	2	4	22	1	0	0	0	0	0	0	0	1	14874	842	30	2		2	SMEK2	2	55795477	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	8808357	55795477	187403896	15	1728											
DPP10	57628	broad.mit.edu	37	chr2	116510788	116510788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttaaatgggtaagcaataCcaagactgtggtaagatggt	13	4	0	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:116510788C>A	ENST00000410059.1	+	11	1469	c.989C>A	c.(988-990)aCc>aAc	p.T330N	DPP10_ENST00000310323.8_Missense_Mutation_p.T323N|DPP10_ENST00000393147.2_Missense_Mutation_p.T334N|DPP10_ENST00000409163.1_Missense_Mutation_p.T280N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	330					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTAAGCAATACCAAGACTGTG	0.363													False	0	False	2:116510788	0	A	116510788	C	A	116510788	3	1	22	1	0	0	0	0	1	0	0	0	4757	507	18	3	1202	3	DPP10	2	116510788	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	60715311	116510788	126688585	16	1729											
CCDC148	130940	broad.mit.edu	37	chr2	159077147	159077147	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcagcgattaatttctTcagttcttctagacgctgaa	7	9	5	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:159077147T>A	ENST00000283233.5	-	11	1643	c.1330A>T	c.(1330-1332)Aag>Tag	p.K444*	CCDC148_ENST00000409187.1_Nonsense_Mutation_p.K453*|CCDC148-AS1_ENST00000412781.2_RNA	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	444										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATTAATTTCTTCAGTTCTTCT	0.328													False	0	False	2:159077147	0	A	159077147	T	A	159077147	4	1	22	1	0	0	0	0	0	1	0	0	2802	1792	62	5	461	5	CCDC148	2	159077147	Nonsense_Mutation	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08	42566359	159077147	84122226	17	1730											
TTN	7273	broad.mit.edu	37	chr2	179456474	179456474	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtcacagtcttaaatttaatCcagtcctgggtgccttcttc	7	11	3	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:179456474C>G	ENST00000589042.1	-	303	60296	c.60072G>C	c.(60070-60072)tgG>tgC	p.W20024C	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W10959C|TTN_ENST00000359218.5_Missense_Mutation_p.W11084C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W11151C|TTN_ENST00000591111.1_Missense_Mutation_p.W18383C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W17456C|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18383	Fibronectin type-III 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAATTTAATCCAGTCCTGGG	0.423													False	0	False	2:179456474	0	G	179456474	C	G	179456474	3	3	22	1	0	0	0	0	1	0	0	0	16819	856	30	5	48147	5	TTN	2	179456474	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	20379327	179456474	63742899	18	1731											
TTN	7273	broad.mit.edu	37	chr2	179638079	179638079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggtaaggtcacgaagacCtctgataattttaatttctg	8	7	3	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:179638079C>T	ENST00000589042.1	-	33	7836	c.7612G>A	c.(7612-7614)Ggt>Agt	p.G2538S	TTN_ENST00000460472.2_Missense_Mutation_p.G2492S|TTN_ENST00000359218.5_Missense_Mutation_p.G2492S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2492S|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G2538S|TTN_ENST00000360870.5_Missense_Mutation_p.G2538S|TTN_ENST00000342992.6_Missense_Mutation_p.G2538S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2272							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACGAAGACCTCTGATAATT	0.353													False	0	False	2:179638079	0	T	179638079	C	T	179638079	3	4	22	1	0	0	0	0	1	0	0	0	16819	681	24	2	103696	2	TTN	2	179638079	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	181605	179638079	63561294	19	1732											
ITGA4	3676	broad.mit.edu	37	chr2	182347132	182347132	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagaactaaatatcttacatGaaatgaaaggtaaaaaggta	7	3	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:182347132G>C	ENST00000397033.2	+	8	1316	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	296					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TATCTTACATGAAATGAAAGG	0.308													False	0	True	2:182347132	0	C	182347132	G	C	182347132	3	2	22	1	0	0	0	0	1	0	0	0	7928	1291	45	5	916	5	ITGA4	2	182347132	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	2709053	182347132	60852241	20	1733											
SLC11A1	6556	broad.mit.edu	37	chr2	219251895	219251895	+	Missense_Mutation	SNP	G	G	C													ggtttcagaatcccactctgGggtggcgtcctcatcaccat							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219251895G>C	ENST00000233202.6	+	6	853	c.513G>C	c.(511-513)tgG>tgC	p.W171C	SLC11A1_ENST00000539932.1_Missense_Mutation_p.W53C	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	171					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCACTCTGGGGTGGCGTCC	0.602													False	0	True	2:219251895	0	C	219251895	G	C	219251895	3	2	22	1	0	0	0	0	1	0	0	0	14461	1241	43	5	535	5	SLC11A1	2	219251895	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	36904763	219251895	23947478	21	1734	15	2									
SLC11A1	6556	broad.mit.edu	37	chr2	219251897	219251897	+	Missense_Mutation	SNP	G	G	T													tttcagaatcccactctgggGtggcgtcctcatcaccatcg							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219251897G>T	ENST00000233202.6	+	6	855	c.515G>T	c.(514-516)gGt>gTt	p.G172V	SLC11A1_ENST00000539932.1_Missense_Mutation_p.G54V	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	172					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACTCTGGGGTGGCGTCCTC	0.602													False	0	True	2:219251897	0	T	219251897	G	T	219251897	3	4	22	1	0	0	0	0	1	0	0	0	14461	1261	44	3	537	3	SLC11A1	2	219251897	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	2	219251897	23947476	22	1735	15	2									
CRYBA2	1412	broad.mit.edu	37	chr2	219856841	219856841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgcgcagagcactggccGgaaggacagcagctggttgc	15	13	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219856841G>A	ENST00000295728.2	-	2	522	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	CRYBA2_ENST00000392096.2_Missense_Mutation_p.R96W	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	96	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCACTGGCCGGAAGGACAGC	0.622													False	0	False	2:219856841	0	A	219856841	G	A	219856841	3	1	22	1	0	0	0	0	1	0	0	0	3931	1115	39	1	319	1	CRYBA2	2	219856841	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	604944	219856841	23342532	23	1736											
CHPF	79586	broad.mit.edu	37	chr2	220406647	220406647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggcaccaggaagaaccaGtcaaagtcgtcgccgtgctg	12	12	2	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:220406647G>T	ENST00000243776.6	-	2	827	c.579C>A	c.(577-579)gaC>gaA	p.D193E	CHPF_ENST00000535926.1_Missense_Mutation_p.D31E|CHPF_ENST00000373891.2_Missense_Mutation_p.D193E	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	193						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGAAGAACCAGTCAAAGTCGT	0.672											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:220406647	0	T	220406647	G	T	220406647	3	4	22	1	0	0	0	0	1	0	0	0	3391	1020	36	3	1760	3	CHPF	2	220406647	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	549806	220406647	22792726	24	1737											
COL4A4	1286	broad.mit.edu	37	chr2	227875104	227875104	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtccagagcctgggcatgcCcagggggcaggtgggctcct	17	12	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:227875104C>A	ENST00000396625.3	-	46	4654	c.4447G>T	c.(4447-4449)Ggc>Tgc	p.G1483C	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1480C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1483	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGGCATGCCCAGGGGGCAG	0.577													False	0	True	2:227875104	0	A	227875104	C	A	227875104	3	1	22	1	0	0	0	0	1	0	0	0	3716	623	22	3	637	3	COL4A4	2	227875104	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	7468457	227875104	15324269	25	1738											
THAP4	51078	broad.mit.edu	37	chr2	242572368	242572368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctacttggataggggaCgctcactctcctcagctcat	10	13	4	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:242572368C>T	ENST00000407315.1	-	2	1635	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	402							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGATAGGGGACGCTCACTCTC	0.627													False	0	False	2:242572368	0	T	242572368	C	T	242572368	3	4	22	1	0	0	0	0	1	0	0	0	15928	536	19	1	557	1	THAP4	2	242572368	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	14697264	242572368	627005	26	1739											
ZFYVE20	64145	broad.mit.edu	37	chr3	15116060	15116060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctttctcgttccaactcCcgttcacgcaacatctgcag	5	17	3	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:15116060C>T	ENST00000253699.3	-	14	2197	c.1584G>A	c.(1582-1584)cgG>cgA	p.R528R	ZFYVE20_ENST00000476527.2_Silent_p.R528R	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	528	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTTCCAACTCCCGTTCACGCA	0.597													False	0	True	3:15116060	0	T	15116060	C	T	15116060	2	4	22	1	0	0	0	0	0	0	0	1	17749	610	22	2		2	ZFYVE20	3	15116060	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		15116060	182906370	27	1740											
SCN5A	6331	broad.mit.edu	37	chr3	38671831	38671831	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agaatcttcacagccgctctCcggatggggtggaagggact	14	10	3	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:38671831C>G	ENST00000413689.1	-	3	556	c.363G>C	c.(361-363)cgG>cgC	p.R121R	SCN5A_ENST00000423572.2_Silent_p.R121R|SCN5A_ENST00000450102.2_Silent_p.R121R|SCN5A_ENST00000425664.1_Silent_p.R121R|SCN5A_ENST00000449557.2_Silent_p.R121R|SCN5A_ENST00000414099.2_Silent_p.R121R|SCN5A_ENST00000443581.1_Silent_p.R121R|SCN5A_ENST00000455624.2_Silent_p.R121R|SCN5A_ENST00000451551.2_Silent_p.R121R|SCN5A_ENST00000333535.4_Silent_p.R121R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	121					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAGCCGCTCTCCGGATGGGGT	0.557													False	0	False	3:38671831	0	G	38671831	C	G	38671831	2	3	22	1	0	0	0	0	0	0	0	1	14003	842	30	5		5	SCN5A	3	38671831	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	23555771	38671831	159350599	28	1741											
ZNF619	285267	broad.mit.edu	37	chr3	40529155	40529155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaggccttccaccgcagttCggtatttcttcagcaccaga	8	14	2	1	rs139131960	by1000genomes	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:40529155C>T	ENST00000447116.2	+	6	1581	c.1274C>T	c.(1273-1275)tCg>tTg	p.S425L	ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.S425L|ZNF619_ENST00000456778.1_Missense_Mutation_p.S341L|ZNF619_ENST00000432264.2_Missense_Mutation_p.S385L|ZNF619_ENST00000429348.2_Missense_Mutation_p.S385L|ZNF619_ENST00000522736.1_Missense_Mutation_p.S376L|ZNF619_ENST00000314686.5_Missense_Mutation_p.S369L	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	425					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CACCGCAGTTCGGTATTTCTT	0.443													False	0	False	3:40529155	0	T	40529155	C	T	40529155	3	4	22	1	0	0	0	0	1	0	0	0	18126	893	31	1	1314	1	ZNF619	3	40529155	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	1857324	40529155	157493275	29	1742											
TRAIP	10293	broad.mit.edu	37	chr3	49867474	49867474	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcctggggcctttgcatatCttcttggggacatcctgaat	10	10	2	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:49867474C>T	ENST00000331456.2	-	12	1178	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	TRAIP_ENST00000469027.1_Silent_p.K200K	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	355	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTTGCATATCTTCTTGGGGA	0.532													False	0	False	3:49867474	0	T	49867474	C	T	49867474	2	4	22	1	0	0	0	0	0	0	0	1	16531	912	32	2		2	TRAIP	3	49867474	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	9338319	49867474	148154956	30	1743											
GPR27	2850	broad.mit.edu	37	chr3	71804286	71804286	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccagagcccccggaccacCcaggcgacccatccctgcga	10	20	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:71804286C>A	ENST00000304411.2	+	1	1086	c.1086C>A	c.(1084-1086)acC>acA	p.T362T		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	362						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CCCGGACCACCCAGGCGACCC	0.647													False	0	True	3:71804286	0	A	71804286	C	A	71804286	2	1	22	1	0	0	0	0	0	0	0	1	6731	610	22	3		3	GPR27	3	71804286	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	21936812	71804286	126218144	31	1744											
SIDT1	54847	broad.mit.edu	37	chr3	113320452	113320452	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caggctctggaaatatggtgGcatctcatcccattgctgcc	10	12	2	0	rs138220562		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:113320452G>C	ENST00000264852.4	+	11	1789	c.1063G>C	c.(1063-1065)Gca>Cca	p.A355P	SIDT1_ENST00000393830.3_Missense_Mutation_p.A355P	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	355						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AAATATGGTGGCATCTCATCC	0.413													False	0	False	3:113320452	0	C	113320452	G	C	113320452	3	2	22	1	0	0	0	0	1	0	0	0	14383	1203	42	5	1105	5	SIDT1	3	113320452	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	41516166	113320452	84701978	32	1745											
GRAMD1C	54762	broad.mit.edu	37	chr3	113595066	113595066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggaaaaaactgctcgaCtcatcccaaacgctatccag	6	14	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:113595066C>T	ENST00000358160.4	+	5	910	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	140						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AACTGCTCGACTCATCCCAAA	0.303													False	0	False	3:113595066	0	T	113595066	C	T	113595066	3	4	22	1	0	0	0	0	1	0	0	0	6796	565	20	2	436	2	GRAMD1C	3	113595066	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	274614	113595066	84427364	33	1746											
ARHGAP31	57514	broad.mit.edu	37	chr3	119121031	119121031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagatggagccctcgccgCgtaaccagcgcaaggcgctg	13	15	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:119121031C>T	ENST00000264245.4	+	10	1964	c.1432C>T	c.(1432-1434)Cgt>Tgt	p.R478C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	478					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCCTCGCCGCGTAACCAGCG	0.587													False	0	False	3:119121031	0	T	119121031	C	T	119121031	3	4	22	1	0	0	0	0	1	0	0	0	882	768	27	1	1470	1	ARHGAP31	3	119121031	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	5525965	119121031	78901399	34	1747											
DHX36	170506	broad.mit.edu	37	chr3	154032888	154032888	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtaaatcttccaataAtttttggtctaaagttccat	4	7	2	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:154032888A>C	ENST00000496811.1	-	3	630	c.550T>G	c.(550-552)Tta>Gta	p.L184V	DHX36_ENST00000308361.6_Missense_Mutation_p.L184V|DHX36_ENST00000544526.1_Missense_Mutation_p.L184V|DHX36_ENST00000329463.5_Missense_Mutation_p.L184V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	184						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTTCCAATAATTTTTGGTCT	0.289													False	0	True	3:154032888	0	C	154032888	A	C	154032888	3	2	22	1	0	0	0	0	1	0	0	0	4539	98	4	4	2568	4	DHX36	3	154032888	Missense_Mutation	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	34911857	154032888	43989542	35	1748											
GHSR	2693	broad.mit.edu	37	chr3	172165640	172165640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcccaagggtcggtgccGttctcgtgctccaccccgac	12	16	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:172165640G>A	ENST00000241256.2	-	1	606	c.564C>T	c.(562-564)aaC>aaT	p.N188N	GHSR_ENST00000427970.1_Silent_p.N188N	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	188					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGTCGGTGCCGTTCTCGTGCT	0.637													False	0	False	3:172165640	0	A	172165640	G	A	172165640	2	1	22	1	0	0	0	0	0	0	0	1	6420	1136	40	1		1	GHSR	3	172165640	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	18132752	172165640	25856790	36	1749											
ETV5	2119	broad.mit.edu	37	chr3	185783686	185783686	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgggggccctggcatgcccgGgaccccatgttcatagagtg	15	12	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:185783686G>C	ENST00000306376.5	-	8	1072	c.826C>G	c.(826-828)Ccg>Gcg	p.P276A	ETV5_ENST00000537818.1_Missense_Mutation_p.P318A|ETV5_ENST00000434744.1_Missense_Mutation_p.P276A	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	276					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GGCATGCCCGGGACCCCATGT	0.552			T	"TMPRSS2, SCL45A3"	Prostate								False	0	True	3:185783686	0	C	185783686	G	C	185783686	3	2	22	1	0	0	0	0	1	0	0	0	5314	1232	43	5	730	5	ETV5	3	185783686	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	13618046	185783686	12238744	37	1750											
MFSD7	84179	broad.mit.edu	37	chr4	678335	678335	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gagaagctggcagagatcccGatcattccccccaagcacac	9	15	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:678335G>C	ENST00000322224.4	-	6	1090	c.777C>G	c.(775-777)atC>atG	p.I259M	MFSD7_ENST00000347950.5_Missense_Mutation_p.I141M|MFSD7_ENST00000503156.1_Missense_Mutation_p.I195M|MFSD7_ENST00000404286.2_Missense_Mutation_p.I260M|MFSD7_ENST00000515118.1_Missense_Mutation_p.I163M			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	260					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CAGAGATCCCGATCATTCCCC	0.642											OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	4:678335	0	C	678335	G	C	678335	3	2	22	1	0	0	0	0	1	0	0	0	9604	1048	37	5	922	5	MFSD7	4	678335	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08		678335	190475941	38	1751											
NCAPG	64151	broad.mit.edu	37	chr4	17839269	17839269	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggactaatcaggaatgctttGaagaagcttttcttccaacc	8	9	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:17839269G>C	ENST00000251496.2	+	16	2487	c.2311G>C	c.(2311-2313)Gaa>Caa	p.E771Q		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	771					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GGAATGCTTTGAAGAAGCTTT	0.358													False	0	True	4:17839269	0	C	17839269	G	C	17839269	3	2	22	1	0	0	0	0	1	0	0	0	10275	1291	45	5	2373	5	NCAPG	4	17839269	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	17160934	17839269	173315007	39	1752											
FAM114A1	92689	broad.mit.edu	37	chr4	38933133	38933133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtgtcagtagatgtggCaaaagtgtccgaagaagaaa	14	5	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:38933133C>T	ENST00000358869.2	+	11	1399	c.1223C>T	c.(1222-1224)gCa>gTa	p.A408V	FAM114A1_ENST00000515037.1_Missense_Mutation_p.A201V	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	408						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTAGATGTGGCAAAAGTGTCC	0.453													False	0	True	4:38933133	0	T	38933133	C	T	38933133	3	4	22	1	0	0	0	0	1	0	0	0	5439	710	25	2	1257	2	FAM114A1	4	38933133	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	21093864	38933133	152221143	40	1753											
ALB	213	broad.mit.edu	37	chr4	74283893	74283893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcacagaatccttggTgaacaggcgaccatgctttt	10	10	0	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:74283893T>C	ENST00000295897.4	+	12	1606	c.1517T>C	c.(1516-1518)gTg>gCg	p.V506A	ALB_ENST00000503124.1_Missense_Mutation_p.V356A|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.V506A|ALB_ENST00000415165.2_Missense_Mutation_p.V314A|ALB_ENST00000401494.3_Missense_Mutation_p.V391A	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	506	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GAATCCTTGGTGAACAGGCGA	0.448													False	0	False	4:74283893	0	C	74283893	T	C	74283893	3	2	22	1	0	0	0	0	1	0	0	0	486	1696	59	4	1563	4	ALB	4	74283893	Missense_Mutation	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08	35350760	74283893	116870383	41	1754											
IBSP	3381	broad.mit.edu	37	chr4	88727301	88727301	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgactcatccgaagaaaatGgagatgacagttcagaagag	12	6	2	6			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:88727301G>T	ENST00000226284.5	+	5	278	c.211G>T	c.(211-213)Gga>Tga	p.G71*		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	71	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CGAAGAAAATGGAGATGACAG	0.348													False	0	False	4:88727301	0	T	88727301	G	T	88727301	4	4	22	1	0	0	0	0	0	1	0	0	7525	1349	47	3	225	3	IBSP	4	88727301	Nonsense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	14443408	88727301	102426975	42	1755											
DAPP1	27071	broad.mit.edu	37	chr4	100784951	100784951	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cagaaccaattcggatcctaGacctaacagaatgttcagct	7	11	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:100784951G>C	ENST00000296414.7	+	7	706	c.625G>C	c.(625-627)Gac>Cac	p.D209H	DAPP1_ENST00000512369.1_Missense_Mutation_p.D209H			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	209	PH.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TCGGATCCTAGACCTAACAGA	0.303													False	0	False	4:100784951	0	C	100784951	G	C	100784951	3	2	22	1	0	0	0	0	1	0	0	0	4264	942	33	5	651	5	DAPP1	4	100784951	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	12057650	100784951	90369325	43	1756											
AIMP1	9255	broad.mit.edu	37	chr4	107252827	107252827	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccattcataaatactttttAggagagaagaaggagaaaaa	8	5	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:107252827A>G	ENST00000394701.4	+	5	504		c.e5-1		AIMP1_ENST00000358008.3_Splice_Site|AIMP1_ENST00000442366.1_Splice_Site	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1						angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						AATACTTTTTAGGAGAGAAGA	0.358													False	0	True	4:107252827	0	G	107252827	A	G	107252827	5	3	22	1	0	0	0	0	0	0	1	0	433	434	15	4	480	4	AIMP1	4	107252827	Splice_Site	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	6467876	107252827	83901449	44	1757											
FAT1	2195	broad.mit.edu	37	chr4	187524664	187524664	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgtcgttcctcctcacAcccaggatgttccgtaaagc	8	13	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:187524664A>G	ENST00000441802.2	-	19	11225	c.11016T>C	c.(11014-11016)ggT>ggC	p.G3672G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3672					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCTCCTCACACCCAGGATGT	0.502										HNSCC(5;0.00058)			False	0	True	4:187524664	0	G	187524664	A	G	187524664	2	3	22	1	0	0	0	0	0	0	0	1	5729	146	6	4		4	FAT1	4	187524664	Silent	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	80271837	187524664	3629612	45	1758											
PDE8B	8622	broad.mit.edu	37	chr5	76646926	76646926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatgccagacggaaatccGgggacagcatccaacagcac	10	13	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:76646926G>A	ENST00000264917.5	+	9	1099	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	PDE8B_ENST00000342343.4_Missense_Mutation_p.G332R|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Missense_Mutation_p.G352R|PDE8B_ENST00000340978.3_Missense_Mutation_p.G305R	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	352					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.G352R(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ACGGAAATCCGGGGACAGCAT	0.502													False	0	True	5:76646926	0	A	76646926	G	A	76646926	3	1	22	1	0	0	0	0	1	0	0	0	11722	1116	39	1	1088	1	PDE8B	5	76646926	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08		76646926	104268334	46	1759											
PCDHB2	0	broad.mit.edu	37	chr5	140475321	140475321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatttcgaatccatccagaCatacacagtaaatattcagg	7	9	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:140475321C>T	ENST00000194155.4	+	1	1095	c.947C>T	c.(946-948)aCa>aTa	p.T316I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		316	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCATCCAGACATACACAGTA	0.423													False	0	False	5:140475321	0	T	140475321	C	T	140475321	3	4	22	1	0	0	0	0	1	0	0	0	11610	478	17	2	949	2	PCDHB2	5	140475321	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	63828395	140475321	40439939	47	1760											
PCDHGC5	0	broad.mit.edu	37	chr5	140869580	140869580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagagaatgcacccattgGtactctgctgctccgcctca	8	16	2	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:140869580G>A	ENST00000252087.1	+	1	773	c.773G>A	c.(772-774)gGt>gAt	p.G258D	PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		258	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCCATTGGTACTCTGCTG	0.517													False	0	False	5:140869580	0	A	140869580	G	A	140869580	3	1	22	1	0	0	0	0	1	0	0	0	11639	1261	44	2	775	2	PCDHGC5	5	140869580	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	394259	140869580	40045680	48	1761											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216585	149216585	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcccgcagccgctcaagctCtggctcttcaccctgccact	7	19	4	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:149216585C>G	ENST00000309241.5	+	8	2599	c.2567C>G	c.(2566-2568)tCt>tGt	p.S856C	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S856C|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S792C|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S817C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	856					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGCTCAAGCTCTGGCTCTTCA	0.637													False	0	False	5:149216585	0	G	149216585	C	G	149216585	3	3	22	1	0	0	0	0	1	0	0	0	12370	913	32	5	2604	5	PPARGC1B	5	149216585	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	8347005	149216585	31698675	49	1762											
DRD1	1812	broad.mit.edu	37	chr5	174869707	174869707	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccttgggggtcatctttctCtcataccggaaagggctgga	13	10	4	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:174869707C>G	ENST00000393752.2	-	2	1388	c.396G>C	c.(394-396)gaG>gaC	p.E132D		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	132					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TCATCTTTCTCTCATACCGGA	0.542													False	0	True	5:174869707	0	G	174869707	C	G	174869707	3	3	22	1	0	0	0	0	1	0	0	0	4786	912	32	5	948	5	DRD1	5	174869707	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	25653122	174869707	6045553	50	1763											
RREB1	6239	broad.mit.edu	37	chr6	7231195	7231195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggatttggccactcccagcGaagccaagaagcctgaggag	13	11	0	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:7231195G>A	ENST00000379938.2	+	10	3400	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	RREB1_ENST00000379933.3_Missense_Mutation_p.E955K|RREB1_ENST00000349384.6_Missense_Mutation_p.E955K|RREB1_ENST00000334984.6_Missense_Mutation_p.E955K	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	955					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACTCCCAGCGAAGCCAAGAA	0.617													False	0	False	6:7231195	0	A	7231195	G	A	7231195	3	1	22	1	0	0	0	0	1	0	0	0	13758	1059	37	1	2889	1	RREB1	6	7231195	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08		7231195	163883872	51	1764											
CDKAL1	54901	broad.mit.edu	37	chr6	21198312	21198342	+	Splice_Site	DEL	GCACACAATCAATTCTATGAGCAGGTAAGAG	GCACACAATCAATTCTATGAGCAGGTAAGAG	-													ttgattccaagttttatgttGcacacaatcaattctatgag							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	GCACACAATCAATTCTATGAGCAGGTAAGAG	GCACACAATCAATTCTATGAGCAGGTAAGAG	-	-	GCACACAATCAATTCTATGAGCAGGTAAGAG	GCACACAATCAATTCTATGAGCAGGTAAGAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:21198312_21198342delGCACACAATCAATTCTATGAGCAGGTAAGAG	ENST00000378610.1	+	12	1370_1393	c.1360_1383delGCACACAATCAATTCTATGAGCAGGTAAGAG	c.(1360-1383)gcacacaatcaattctatgagcagdel	p.AHNQFYEQ454fs	CDKAL1_ENST00000378624.4_Splice_Site_p.AHNQFYEQ363fs|CDKAL1_ENST00000274695.4_Splice_Site_p.AHNQFYEQ454fs			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	454	TRAM.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GTTTTATGTTGCACACAATCAATTCTATGAGCAGGTAAGAGGCACTTCAGT	0.385													False	1	False	6:21198312	0	-	21198342	GCACACAATCAATTCTATGAGCAGGTAAGAG	-	21198312	8	5	22	1	0	1	0	1	0	0	1	0	3175	1319	46	0	1406	0	CDKAL1	6	21198312	Splice_Site	DEL	GCACACAATCAATTCTATGAGCAGGTAAGAG	TCGA-3A-A9I9-01A-11D-A38G-08	13967117	21198312	149916755	52	1765											
MDGA1	266727	broad.mit.edu	37	chr6	37622148	37622148	+	Frame_Shift_Del	DEL	A	A	-													cccgggcctgcactgaagggAtgctgagggtgccaccctgg							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:37622148delA	ENST00000434837.2	-	6	2062	c.884delT	c.(883-885)atcfs	p.I295fs	MDGA1_ENST00000297153.7_Frame_Shift_Del_p.I295fs|MDGA1_ENST00000505425.1_Frame_Shift_Del_p.I295fs	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	295	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACTGAAGGGATGCTGAGGGT	0.637													False	1	True	6:37622148	0	-	37622148	A	-	37622148	7	5	22	1	0	1	0	1	0	0	0	0	9473	333	12	0	2031	0	MDGA1	6	37622148	Frame_Shift_Del	DEL	A	TCGA-3A-A9I9-01A-11D-A38G-08	16423836	37622148	133492919	53	1766	16	2									
MDGA1	266727	broad.mit.edu	37	chr6	37622150	37622193	+	Frame_Shift_Del	DEL	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	-													cgggcctgcactgaagggatGctgagggtgccaccctgggc					rs35798272		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	-	-	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:37622150_37622193delGCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	ENST00000434837.2	-	6	2017_2060	c.839_882delGCCCACTGCCCCTGGGTGCTCTGGCCCAGGGTGGCACCCTCAGC	c.(838-882)ggcccactgcccctgggtgctctggcccagggtggcaccctcagcfs	p.GPLPLGALAQGGTLS280fs	MDGA1_ENST00000297153.7_Frame_Shift_Del_p.GPLPLGALAQGGTLS280fs|MDGA1_ENST00000505425.1_Frame_Shift_Del_p.GPLPLGALAQGGTLS280fs	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	280	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.Q289H(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGAAGGGATGCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGCCAGGCCCATG	0.623													False	1	False	6:37622150	0	-	37622193	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	-	37622150	7	5	22	1	0	1	0	1	0	0	0	0	9473	1310	46	0	2033	0	MDGA1	6	37622150	Frame_Shift_Del	DEL	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	TCGA-3A-A9I9-01A-11D-A38G-08	2	37622150	133492917	54	1767	16	2									
TCTE1	202500	broad.mit.edu	37	chr6	44248064	44248064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccacatctgacaggcGcaagtcaaattccaggaggg	13	11	2	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:44248064G>A	ENST00000371505.4	-	5	1482	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Missense_Mutation_p.R151C|TCTE1_ENST00000371504.1_Missense_Mutation_p.R151C	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	454										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTGACAGGCGCAAGTCAAAT	0.582													False	0	False	6:44248064	0	A	44248064	G	A	44248064	3	1	22	1	0	0	0	0	1	0	0	0	15799	1087	38	1	149	1	TCTE1	6	44248064	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	6625914	44248064	126867003	55	1768											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111913040	111913040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctccagaacttgagtgcGcaggcaggtgacctgccggg	15	12	0	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:111913040G>A	ENST00000368761.5	-	2	728	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.R84C|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.R93C|TRAF3IP2-AS1_ENST00000532353.1_RNA	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	93					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		p.R93C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		ACTTGAGTGCGCAGGCAGGTG	0.557													False	0	True	6:111913040	0	A	111913040	G	A	111913040	3	1	22	1	0	0	0	0	1	0	0	0	16524	1087	38	1	1479	1	TRAF3IP2	6	111913040	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	67664976	111913040	59202027	56	1769											
TNFAIP3	7128	broad.mit.edu	37	chr6	138202266	138202266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaacatcctggcctgccGcagcgaggagctctgcatgg	13	13	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:138202266G>A	ENST00000237289.4	+	9	2249	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	728	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTGGCCTGCCGCAGCGAGGAG	0.657			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								False	0	False	6:138202266	0	A	138202266	G	A	138202266	3	1	22	1	0	0	0	0	1	0	0	0	16356	1087	38	1	2213	1	TNFAIP3	6	138202266	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	26289226	138202266	32912801	57	1770											
AMPH	273	broad.mit.edu	37	chr7	38502605	38502605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgaggccgtgctggtgcGggagacgcaggtgctaatgt	18	9	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:38502605G>A	ENST00000356264.2	-	10	1073	c.858C>T	c.(856-858)ccC>ccT	p.P286P	AMPH_ENST00000325590.5_Silent_p.P286P|AMPH_ENST00000428293.2_Silent_p.P286P	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	286					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGCTGGTGCGGGAGACGCAG	0.547													False	0	True	7:38502605	0	A	38502605	G	A	38502605	2	1	22	1	0	0	0	0	0	0	0	1	588	1103	39	1		1	AMPH	7	38502605	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08		38502605	120636058	58	1771											
PKD1L1	168507	broad.mit.edu	37	chr7	47842826	47842826	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccctgctacaaagatgctGgggagtgagtggcgcatcat	13	10	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:47842826G>T	ENST00000289672.2	-	53	7994	c.7944C>A	c.(7942-7944)ccC>ccA	p.P2648P	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2648					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAAAGATGCTGGGGAGTGAGT	0.463													False	0	True	7:47842826	0	T	47842826	G	T	47842826	2	4	22	1	0	0	0	0	0	0	0	1	12033	1335	47	3		3	PKD1L1	7	47842826	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	9340221	47842826	111295837	59	1772											
EPHB4	2050	broad.mit.edu	37	chr7	100421350	100421350	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagtagaagacggtgaaggtCtccttgcaggagcgcccagc	14	10	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:100421350C>T	ENST00000358173.3	-	3	795	c.327G>A	c.(325-327)gaG>gaA	p.E109E	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.E109E	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	109					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGTGAAGGTCTCCTTGCAGG	0.667													False	0	False	7:100421350	0	T	100421350	C	T	100421350	2	4	22	1	0	0	0	0	0	0	0	1	5209	912	32	2		2	EPHB4	7	100421350	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	52578524	100421350	58717313	60	1773											
RELN	5649	broad.mit.edu	37	chr7	103234836	103234836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacagaatgatgatgtcatCgactgcccactggtcatagt	11	9	2	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:103234836C>T	ENST00000428762.1	-	26	3802	c.3643G>A	c.(3643-3645)Gat>Aat	p.D1215N	RELN_ENST00000424685.2_Missense_Mutation_p.D1215N|RELN_ENST00000343529.5_Missense_Mutation_p.D1215N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1215					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGATGTCATCGACTGCCCAC	0.517													False	0	False	7:103234836	0	T	103234836	C	T	103234836	3	4	22	1	0	0	0	0	1	0	0	0	13299	884	31	1	6899	1	RELN	7	103234836	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	2813486	103234836	55903827	61	1774											
LAMB4	22798	broad.mit.edu	37	chr7	107735753	107735753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatcacaggtcaagaatgGcagactcccaagggggttac	11	11	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:107735753G>A	ENST00000388781.3	-	12	1473	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S	LAMB4_ENST00000388780.3_Missense_Mutation_p.P464S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P464S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P464S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	464	Laminin EGF-like 4.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTCAAGAATGGCAGACTCCCA	0.453													False	0	False	7:107735753	0	A	107735753	G	A	107735753	3	1	22	1	0	0	0	0	1	0	0	0	8664	1203	42	2	3987	2	LAMB4	7	107735753	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	4500917	107735753	51402910	62	1775											
ZNF746	155061	broad.mit.edu	37	chr7	149171720	149171720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggtgcaggtgaagggccGcacgcccgtgtgcgttcggt	18	11	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:149171720G>A	ENST00000340622.3	-	7	1970	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	ZNF746_ENST00000458143.2_Missense_Mutation_p.R565W			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	564					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GTGAAGGGCCGCACGCCCGTG	0.672													False	0	False	7:149171720	0	A	149171720	G	A	149171720	3	1	22	1	0	0	0	0	1	0	0	0	18211	1086	38	1	248	1	ZNF746	7	149171720	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	41435967	149171720	9966943	63	1776											
DEFB135	613209	broad.mit.edu	37	chr8	11841997	11841997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgactgcaaggtacttgCcggccaaaatgtctaaaaaa	10	9	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:11841997C>T	ENST00000382208.2	+	2	132	c.132C>T	c.(130-132)tgC>tgT	p.C44C		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	44					defense response to bacterium	extracellular region				endometrium(1)|large_intestine(2)|prostate(1)	4						AAGGTACTTGCCGGCCAAAAT	0.373													False	0	False	8:11841997	0	T	11841997	C	T	11841997	2	4	22	1	0	0	0	0	0	0	0	1	4449	747	26	2		2	DEFB135	8	11841997	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		11841997	134522025	64	1777											
NCOA2	10499	broad.mit.edu	37	chr8	71082538	71082538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcttggttataccttAgatactgtgtcacattctct	6	10	4	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:71082538A>G	ENST00000452400.2	-	6	621	c.440T>C	c.(439-441)cTa>cCa	p.L147P		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	147	PAS.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTTATACCTTAGATACTGTGT	0.418			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								False	0	False	8:71082538	0	G	71082538	A	G	71082538	3	3	22	1	0	0	0	0	1	0	0	0	10297	420	15	4	4026	4	NCOA2	8	71082538	Missense_Mutation	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08	59240541	71082538	75281484	65	1778											
MATN2	4147	broad.mit.edu	37	chr8	99019798	99019798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagtgtcctgagggacaCgtgctccgcagcgatgggaa	15	10	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:99019798C>T	ENST00000254898.5	+	10	1773	c.1542C>T	c.(1540-1542)caC>caT	p.H514H	MATN2_ENST00000520016.1_Silent_p.H514H|MATN2_ENST00000524308.1_Silent_p.H473H|MATN2_ENST00000522025.2_Silent_p.H230H|MATN2_ENST00000521689.1_Silent_p.H514H	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	514	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CTGAGGGACACGTGCTCCGCA	0.567													False	0	False	8:99019798	0	T	99019798	C	T	99019798	2	4	22	1	0	0	0	0	0	0	0	1	9401	535	19	1		1	MATN2	8	99019798	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	27937260	99019798	47344224	66	1779											
POP1	10940	broad.mit.edu	37	chr8	99170241	99170241	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggaagagcccgtggctggGcaggaagctctgactctagg	18	9	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:99170241G>T	ENST00000401707.2	+	16	2898	c.2817G>T	c.(2815-2817)ggG>ggT	p.G939G	POP1_ENST00000349693.3_Silent_p.G939G	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	939					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CCGTGGCTGGGCAGGAAGCTC	0.572													False	0	True	8:99170241	0	T	99170241	G	T	99170241	2	4	22	1	0	0	0	0	0	0	0	1	12320	1190	42	3		3	POP1	8	99170241	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	150443	99170241	47193781	67	1780											
ATAD2	29028	broad.mit.edu	37	chr8	124348628	124348628	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcacctccaggatctctatCtggattgtattctaaggcat	7	11	4	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:124348628C>G	ENST00000287394.5	-	22	3303	c.3196G>C	c.(3196-3198)Gat>Cat	p.D1066H	ATAD2_ENST00000521903.1_Missense_Mutation_p.D384H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1066	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.D1066Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGATCTCTATCTGGATTGTAT	0.373													False	0	False	8:124348628	0	G	124348628	C	G	124348628	3	3	22	1	0	0	0	0	1	0	0	0	1075	913	32	5	1004	5	ATAD2	8	124348628	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	25178387	124348628	22015394	68	1781											
TLN1	7094	broad.mit.edu	37	chr9	35700280	35700280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggaattgccagcagcaaCggccttggcggttgccatgg	14	11	0	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:35700280C>T	ENST00000314888.9	-	49	6921	c.6568G>A	c.(6568-6570)Gtt>Att	p.V2190I	TLN1_ENST00000540444.1_Missense_Mutation_p.V2078I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2190					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCAGCAACGGCCTTGGCG	0.547													False	0	False	9:35700280	0	T	35700280	C	T	35700280	3	4	22	1	0	0	0	0	1	0	0	0	16029	536	19	1	1093	1	TLN1	9	35700280	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		35700280	105513151	69	1782											
FAM189A2	9413	broad.mit.edu	37	chr9	71951186	71951186	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcctatgatactcctgGtatgtactgatcttataaat	7	7	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:71951186G>T	ENST00000257515.8	+	2	432		c.e2+1		FAM189A2_ENST00000455972.1_Splice_Site	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2							integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GATACTCCTGGTATGTACTGA	0.333													False	0	False	9:71951186	0	T	71951186	G	T	71951186	5	4	22	1	0	0	0	0	0	0	1	0	5552	1275	44	3	15	3	FAM189A2	9	71951186	Splice_Site	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	36250906	71951186	69262245	70	1783											
ENTPD8	377841	broad.mit.edu	37	chr9	140330612	140330612	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaactgtgaggttctggggGaggctcagcgggggcgtggc	20	8	3	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:140330612G>T	ENST00000371506.2	-	7	1086	c.903C>A	c.(901-903)ctC>ctA	p.L301L	ENTPD8_ENST00000472938.1_Silent_p.L301L|ENTPD8_ENST00000344119.2_Silent_p.L301L	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	301						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGTTCTGGGGGAGGCTCAGCG	0.642													False	0	True	9:140330612	0	T	140330612	G	T	140330612	2	4	22	1	0	0	0	0	0	0	0	1	5177	1161	41	3		3	ENTPD8	9	140330612	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	68379426	140330612	882819	71	1784											
ARHGAP21	57584	broad.mit.edu	37	chr10	24908567	24908567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaagatgtaagactgatGccttaaaggctgcggtgtct	12	8	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:24908567G>A	ENST00000396432.2	-	9	2743	c.2257C>T	c.(2257-2259)Cat>Tat	p.H753Y	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H540Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	752					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TAAGACTGATGCCTTAAAGGC	0.473													False	0	False	10:24908567	0	A	24908567	G	A	24908567	3	1	22	1	0	0	0	0	1	0	0	0	873	1319	46	2	3691	2	ARHGAP21	10	24908567	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08		24908567	110626180	72	1785											
TET1	80312	broad.mit.edu	37	chr10	70332929	70332940	+	In_Frame_Del	DEL	ATCTCTTAAGTT	ATCTCTTAAGTT	-													gagttgggttcacgagtagaAtctcttaagttatctgattc							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	ATCTCTTAAGTT	ATCTCTTAAGTT	-	-	ATCTCTTAAGTT	ATCTCTTAAGTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:70332929_70332940delATCTCTTAAGTT	ENST00000373644.4	+	2	1043_1054	c.834_845delATCTCTTAAGTT	c.(832-846)gaatctcttaagtta>gaa	p.SLKL279del		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	279					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.S279Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CACGAGTAGAATCTCTTAAGTTATCTGATTCT	0.434													False	1	False	10:70332929	0	-	70332940	ATCTCTTAAGTT	-	70332929	7	5	22	1	0	1	0	1	0	0	0	0	15851	98	4	0	836	0	TET1	10	70332929	In_Frame_Del	DEL	ATCTCTTAAGTT	TCGA-3A-A9I9-01A-11D-A38G-08	45424362	70332929	65201818	73	1786											
CDH23	64072	broad.mit.edu	37	chr10	73377087	73377087	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccgagtacagcgtggccatCactgagctggcacaggtcgg	14	12	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:73377087C>T	ENST00000224721.6	+	10	1091	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	CDH23_ENST00000299366.7_Silent_p.I402I|CDH23_ENST00000461841.3_Silent_p.I402I|CDH23_ENST00000398809.4_Silent_p.I357I|CDH23_ENST00000398842.3_Silent_p.I357I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	357	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCGTGGCCATCACTGAGCTGG	0.557													False	0	False	10:73377087	0	T	73377087	C	T	73377087	2	4	22	1	0	0	0	0	0	0	0	1	3131	816	29	2		2	CDH23	10	73377087	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	3044158	73377087	62157660	74	1787											
CDH23	64072	broad.mit.edu	37	chr10	73545428	73545428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcccctggaccgcgagcGgatcccagagtacaagctga	13	15	0	2	rs115113440	by1000genomes	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:73545428G>A	ENST00000224721.6	+	43	5773	c.5768G>A	c.(5767-5769)cGg>cAg	p.R1923Q		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1918	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACCGCGAGCGGATCCCAGAG	0.597													False	0	False	10:73545428	0	A	73545428	G	A	73545428	3	1	22	1	0	0	0	0	1	0	0	0	3131	1116	39	1	6268	1	CDH23	10	73545428	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	168341	73545428	61989319	75	1788											
SYNPO2L	79933	broad.mit.edu	37	chr10	75407582	75407582	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cacagagatgcgctgctcgcGagcgctggggggctcaggag	18	11	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:75407582G>C	ENST00000394810.2	-	4	1977	c.1828C>G	c.(1828-1830)Cgc>Ggc	p.R610G	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R386G	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	610	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGCTGCTCGCGAGCGCTGGGG	0.706													False	0	False	10:75407582	0	C	75407582	G	C	75407582	3	2	22	1	0	0	0	0	1	0	0	0	15540	1058	37	5	1109	5	SYNPO2L	10	75407582	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	1862154	75407582	60127165	76	1789											
AGAP5	729092	broad.mit.edu	37	chr10	75451817	75451817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacatggtttgtacagttgCttcttcttatttctacaact	5	8	3	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:75451817C>A	ENST00000443782.2	-	3	436	c.311G>T	c.(310-312)aGc>aTc	p.S104I	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Missense_Mutation_p.S127I			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						TGTACAGTTGCTTCTTCTTAT	0.274													False	0	True	10:75451817	0	A	75451817	C	A	75451817	3	1	22	1	0	0	0	0	1	0	0	0	371	797	28	3	1700	3	AGAP5	10	75451817	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	44235	75451817	60082930	77	1790											
PDCD11	22984	broad.mit.edu	37	chr10	105158241	105158241	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caagaaagatccacaaaccaGagaaagctttccagcagtca	7	11	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:105158241G>C	ENST00000369797.3	+	2	152	c.58G>C	c.(58-60)Gag>Cag	p.E20Q		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	20					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCACAAACCAGAGAAAGCTTT	0.418													False	0	False	10:105158241	0	C	105158241	G	C	105158241	3	2	22	1	0	0	0	0	1	0	0	0	11685	943	33	5	60	5	PDCD11	10	105158241	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	29706424	105158241	30376506	78	1791											
MKI67	4288	broad.mit.edu	37	chr10	129903384	129903384	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctgctttcctgagacttctCttggactgtggcttgaagat	10	9	2	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:129903384C>G	ENST00000368654.3	-	13	7095	c.6720G>C	c.(6718-6720)aaG>aaC	p.K2240N	MKI67_ENST00000368653.3_Missense_Mutation_p.K1880N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2240	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGAGACTTCTCTTGGACTGTG	0.498													False	0	False	10:129903384	0	G	129903384	C	G	129903384	3	3	22	1	0	0	0	0	1	0	0	0	9665	912	32	5	3062	5	MKI67	10	129903384	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	24745143	129903384	5631363	79	1792											
OR4B1	119765	broad.mit.edu	37	chr11	48238701	48238701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgagatccttttgattGtggtgatggcctatgattgc	12	6	0	4			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:48238701G>A	ENST00000309562.2	+	1	358	c.340G>A	c.(340-342)Gtg>Atg	p.V114M		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V114L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTTTTGATTGTGGTGATGGC	0.443													False	0	False	11:48238701	0	A	48238701	G	A	48238701	3	1	22	1	0	0	0	0	1	0	0	0	11112	1377	48	2	342	2	OR4B1	11	48238701	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08		48238701	86767815	80	1793											
SMTNL1	219537	broad.mit.edu	37	chr11	57311123	57311123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtcccagcgaagagcaGgagcaggacgtggaaaaaga	16	8	0	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:57311123G>A	ENST00000457912.1	+	3	813	c.813G>A	c.(811-813)caG>caA	p.Q271Q	SMTNL1_ENST00000399154.2_Silent_p.Q216Q|SMTNL1_ENST00000527972.1_Silent_p.Q253Q			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	253										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GCGAAGAGCAGGAGCAGGACG	0.607													False	0	True	11:57311123	0	A	57311123	G	A	57311123	2	1	22	1	0	0	0	0	0	0	0	1	14895	991	35	2		2	SMTNL1	11	57311123	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	9072422	57311123	77695393	81	1794											
DAGLA	747	broad.mit.edu	37	chr11	61508664	61508664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actacaacaaggggaagaccGctctgctctctgcagccaag	10	13	2	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:61508664G>A	ENST00000257215.5	+	19	2130	c.2014G>A	c.(2014-2016)Gct>Act	p.A672T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	672					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGGGAAGACCGCTCTGCTCTC	0.637													False	0	True	11:61508664	0	A	61508664	G	A	61508664	3	1	22	1	0	0	0	0	1	0	0	0	4251	1087	38	1	2084	1	DAGLA	11	61508664	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	4197541	61508664	73497852	82	1795											
CAPN5	726	broad.mit.edu	37	chr11	76833726	76833726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgaaaggcatcttctacCgcaagaagctgagccagccc	10	12	2	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:76833726C>T	ENST00000278559.3	+	12	1897	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.R610C|CAPN5_ENST00000529629.1_Missense_Mutation_p.R570C	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	570	C2.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CATCTTCTACCGCAAGAAGCT	0.567													False	0	False	11:76833726	0	T	76833726	C	T	76833726	3	4	22	1	0	0	0	0	1	0	0	0	2649	652	23	1	1750	1	CAPN5	11	76833726	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	15325062	76833726	58172790	83	1796											
TECTA	7007	broad.mit.edu	37	chr11	121028674	121028674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgctgcgcaacggggtgcGcggctgcttcagcaccaaga	15	13	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:121028674G>A	ENST00000392793.1	+	14	4701	c.4430G>A	c.(4429-4431)cGc>cAc	p.R1477H	TECTA_ENST00000264037.2_Missense_Mutation_p.R1477H			O75443	TECTA_HUMAN	tectorin alpha	1477					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AACGGGGTGCGCGGCTGCTTC	0.687													False	0	False	11:121028674	0	A	121028674	G	A	121028674	3	1	22	1	0	0	0	0	1	0	0	0	15829	1087	38	1	4480	1	TECTA	11	121028674	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	44194948	121028674	13977842	84	1797											
UBASH3B	84959	broad.mit.edu	37	chr11	122667631	122667631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttcaggccgctacatacGcaccaacctgaacatgcctc	6	15	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:122667631G>A	ENST00000284273.5	+	9	1622	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	416	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CGCTACATACGCACCAACCTG	0.473													False	0	False	11:122667631	0	A	122667631	G	A	122667631	3	1	22	1	0	0	0	0	1	0	0	0	16924	1087	38	1	1281	1	UBASH3B	11	122667631	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	1638957	122667631	12338885	85	1798											
FGF6	2251	broad.mit.edu	37	chr12	4554454	4554454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcacctggaggtgaaagcCgatgcccacgttgcagtaga	14	10	0	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:4554454C>T	ENST00000228837.2	-	1	326	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	95					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGGTGAAAGCCGATGCCCACG	0.652													False	0	False	12:4554454	0	T	4554454	C	T	4554454	3	4	22	1	0	0	0	0	1	0	0	0	5896	652	23	1	355	1	FGF6	12	4554454	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		4554454	129297441	86	1799											
C1S	716	broad.mit.edu	37	chr12	7172426	7172426	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aattgcagtggggatgtattCactgcactgattggggagat	14	5	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:7172426C>A	ENST00000406697.1	+	9	1168	c.540C>A	c.(538-540)ttC>ttA	p.F180L	C1S_ENST00000360817.5_Missense_Mutation_p.F180L|C1S_ENST00000402681.3_Missense_Mutation_p.F13L|C1S_ENST00000328916.3_Missense_Mutation_p.F180L			P09871	C1S_HUMAN	complement component 1, s subcomponent	180	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGGATGTATTCACTGCACTGA	0.428													False	0	True	12:7172426	0	A	7172426	C	A	7172426	3	1	22	1	0	0	0	0	1	0	0	0	1989	825	29	3	558	3	C1S	12	7172426	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	2617972	7172426	126679469	87	1800											
C1RL	51279	broad.mit.edu	37	chr12	7254607	7254607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgaggatacaaactccCtctgaccagggggcctgccc	10	16	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:7254607C>T	ENST00000266542.4	-	3	469	c.377G>A	c.(376-378)aGg>aAg	p.R126K	C1RL_ENST00000545337.1_Missense_Mutation_p.R126K|C1RL_ENST00000545280.1_Missense_Mutation_p.G50R|C1RL_ENST00000544702.1_Missense_Mutation_p.R126K	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	126	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TACAAACTCCCTCTGACCAGG	0.607													False	0	True	12:7254607	0	T	7254607	C	T	7254607	3	4	22	1	0	0	0	0	1	0	0	0	1988	681	24	2	1102	2	C1RL	12	7254607	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	82181	7254607	126597288	88	1801											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	22	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	18143678	25398285	108453610	89	1802											
NOS1	4842	broad.mit.edu	37	chr12	117693813	117693813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggaggggaggccctttaCggggaaagaaacgcaagggt	19	6	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:117693813C>T	ENST00000338101.4	-	16	2565	c.2561G>A	c.(2560-2562)cGt>cAt	p.R854H	NOS1_ENST00000344089.3_Intron|NOS1_ENST00000317775.6_Intron			P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	844	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGGCCCTTTACGGGGAAAGAA	0.602													False	0	True	12:117693813	0	T	117693813	C	T	117693813	3	4	22	1	0	0	0	0	1	0	0	0	10609	551	19	1		1	NOS1	12	117693813	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	92295528	117693813	16158082	90	1803											
POLE	5426	broad.mit.edu	37	chr12	133240667	133240667	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacattggtcgtcttgaagaCaaaattttctgggaagctgt	10	7	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:133240667C>G	ENST00000320574.5	-	23	2672	c.2629G>C	c.(2629-2631)Gtc>Ctc	p.V877L	POLE_ENST00000535270.1_Missense_Mutation_p.V850L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	877					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTCTTGAAGACAAAATTTTCT	0.517								DNA polymerases (catalytic subunits)					False	0	True	12:133240667	0	G	133240667	C	G	133240667	3	3	22	1	0	0	0	0	1	0	0	0	12265	478	17	5	4339	5	POLE	12	133240667	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	15546854	133240667	611228	91	1804											
TPP2	7174	broad.mit.edu	37	chr13	103301346	103301346	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttggaacgccttaaagacctTccatttattgtttctcatag	6	9	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr13:103301346T>A	ENST00000376052.3	+	22	2734	c.2718T>A	c.(2716-2718)ctT>ctA	p.L906L	TPP2_ENST00000376065.4_Silent_p.L906L			P29144	TPP2_HUMAN	tripeptidyl peptidase II	906					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAAAGACCTTCCATTTATTG	0.338													False	0	False	13:103301346	0	A	103301346	T	A	103301346	2	1	22	1	0	0	0	0	0	0	0	1	16495	1770	62	5		5	TPP2	13	103301346	Silent	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08		103301346	11868532	92	1805											
VTI1B	10490	broad.mit.edu	37	chr14	68118129	68118129	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaaagaatttgtagtaAaccaggcctcccaggatggc	11	10	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:68118129A>C	ENST00000554659.1	-	6	1013	c.672T>G	c.(670-672)gtT>gtG	p.V224V	ARG2_ENST00000261783.3_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	224					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		ATTTGTAGTAAACCAGGCCTC	0.453													False	0	True	14:68118129	0	C	68118129	A	C	68118129	2	2	22	1	0	0	0	0	0	0	0	1	17320	1	1	4		4	VTI1B	14	68118129	Silent	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08		68118129	39231411	93	1806											
MAP3K9	4293	broad.mit.edu	37	chr14	71200060	71200060	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccttcactgtcctcatcctCtgtgaagatgacaagagtgg	10	11	3	4			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:71200060C>G	ENST00000554752.2	-	11	2026		c.e11-1		MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		tcctcatcctctgtgaagatg	0.542													False	0	False	14:71200060	0	G	71200060	C	G	71200060	5	3	22	1	0	0	0	0	0	0	1	0	9324	927	32	5	1296	5	MAP3K9	14	71200060	Splice_Site	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	3081931	71200060	36149480	94	1807											
EML1	2009	broad.mit.edu	37	chr14	100374050	100374050	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tatgggactggcagaaagaaGaaaaactagcagatgtgaag	13	4	0	5			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:100374050G>C	ENST00000262233.6	+	10	1223	c.1084G>C	c.(1084-1086)Gaa>Caa	p.E362Q	EML1_ENST00000334192.4_Missense_Mutation_p.E381Q|EML1_ENST00000327921.9_Missense_Mutation_p.E350Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	362						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCAGAAAGAAGAAAAACTAGC	0.468													False	0	True	14:100374050	0	C	100374050	G	C	100374050	3	2	22	1	0	0	0	0	1	0	0	0	5128	943	33	5	1183	5	EML1	14	100374050	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	29173990	100374050	6975490	95	1808											
THBS1	7057	broad.mit.edu	37	chr15	39876541	39876541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaatgagctgaggcggcCtcccctatgctatcacaacg	11	14	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:39876541C>T	ENST00000260356.5	+	6	1109	c.944C>T	c.(943-945)cCt>cTt	p.P315L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	315					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTGAGGCGGCCTCCCCTATGC	0.483													False	0	False	15:39876541	0	T	39876541	C	T	39876541	3	4	22	1	0	0	0	0	1	0	0	0	15935	681	24	2	962	2	THBS1	15	39876541	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		39876541	62654851	96	1809											
RNF111	54778	broad.mit.edu	37	chr15	59359283	59359283	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtaccagctatcatgaacagGtatgtggaatttgagtcagt	11	6	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:59359283G>C	ENST00000348370.4	+	6	2119		c.e6+1		RNF111_ENST00000561186.1_Splice_Site|RNF111_ENST00000557998.1_Splice_Site|RNF111_ENST00000434298.1_Splice_Site|RNF111_ENST00000559209.1_Splice_Site	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111						multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCATGAACAGGTATGTGGAAT	0.468													False	0	False	15:59359283	0	C	59359283	G	C	59359283	5	2	22	1	0	0	0	0	0	0	1	0	13504	1275	44	5	1705	5	RNF111	15	59359283	Splice_Site	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	19482742	59359283	43172109	97	1810											
ITFG3	83986	broad.mit.edu	37	chr16	313364	313364	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacgggcaggagctgAcgcctcgctggacacccaag	15	13	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:313364A>T	ENST00000399932.3	+	9	1526	c.1075A>T	c.(1075-1077)Acg>Tcg	p.T359S	ITFG3_ENST00000442458.2_Missense_Mutation_p.T359S|ITFG3_ENST00000301678.3_Missense_Mutation_p.T359S|ITFG3_ENST00000301679.2_Missense_Mutation_p.T359S|ITFG3_ENST00000600536.1_Missense_Mutation_p.T359S|ITFG3_ENST00000450082.2_Missense_Mutation_p.T359S			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	359						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GCAGGAGCTGACGCCTCGCTG	0.652													False	0	False	16:313364	0	T	313364	A	T	313364	3	4	22	1	0	0	0	0	1	0	0	0	7921	275	10	5	1101	5	ITFG3	16	313364	Missense_Mutation	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08		313364	90041389	98	1811											
PKD1	5310	broad.mit.edu	37	chr16	2165466	2165466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtagccctggccctgaCgtgcagccattggcgcaggc	15	15	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:2165466C>T	ENST00000262304.4	-	10	2218	c.2010G>A	c.(2008-2010)acG>acA	p.T670T	PKD1_ENST00000423118.1_Silent_p.T670T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	670	LDL-receptor class A; atypical.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGGCCCTGACGTGCAGCCAT	0.711													False	0	False	16:2165466	0	T	2165466	C	T	2165466	2	4	22	1	0	0	0	0	0	0	0	1	12032	523	19	1		1	PKD1	16	2165466	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	1852102	2165466	88189287	99	1812											
ABCC11	85320	broad.mit.edu	37	chr16	48248799	48248799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaacccttaccattgacGctgtgagtttcagctttaag	7	12	1	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:48248799G>A	ENST00000394747.1	-	8	1590	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	ABCC11_ENST00000356608.2_Missense_Mutation_p.A414V|ABCC11_ENST00000537808.1_Missense_Mutation_p.A414V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A414V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A414V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	414	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TACCATTGACGCTGTGAGTTT	0.493													False	0	False	16:48248799	0	A	48248799	G	A	48248799	3	1	22	1	0	0	0	0	1	0	0	0	51	1087	38	1	2995	1	ABCC11	16	48248799	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	46083333	48248799	42105954	100	1813											
C16orf70	80262	broad.mit.edu	37	chr16	67166803	67166803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagactcatggactgaggctCcaaagtatgaggttagccct	11	9	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:67166803C>T	ENST00000219139.3	+	6	627	c.439C>T	c.(439-441)Cca>Tca	p.P147S	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.P147S	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	147										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GACTGAGGCTCCAAAGTATGA	0.512													False	0	False	16:67166803	0	T	67166803	C	T	67166803	3	4	22	1	0	0	0	0	1	0	0	0	1839	855	30	2	461	2	C16orf70	16	67166803	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	18918004	67166803	23187950	101	1814											
FAM65A	79567	broad.mit.edu	37	chr16	67576517	67576517	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acactatgccaagccctaccCataccacagcaagccccact	4	19	0	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:67576517C>G	ENST00000540839.3	+	14	2108	c.1888C>G	c.(1888-1890)Cat>Gat	p.H630D	FAM65A_ENST00000428437.2_Missense_Mutation_p.H624D|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000379312.3_Missense_Mutation_p.H614D|FAM65A_ENST00000422602.2_Missense_Mutation_p.H630D|FAM65A_ENST00000042381.4_Missense_Mutation_p.H610D			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	614	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AAGCCCTACCCATACCACAGC	0.547													False	0	True	16:67576517	0	G	67576517	C	G	67576517	3	3	22	1	0	0	0	0	1	0	0	0	5639	594	21	5	1874	5	FAM65A	16	67576517	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	409714	67576517	22778236	102	1815											
DHX38	9785	broad.mit.edu	37	chr16	72138480	72138480	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgggaatgtccccatcttCcacatccctggccgtacctt	7	15	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:72138480C>T	ENST00000268482.3	+	15	2615	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	702	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCCATCTTCCACATCCCTG	0.537													False	0	False	16:72138480	0	T	72138480	C	T	72138480	2	4	22	1	0	0	0	0	0	0	0	1	4541	854	30	2		2	DHX38	16	72138480	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	4561963	72138480	18216273	103	1816											
CDYL2	124359	broad.mit.edu	37	chr16	80718735	80718735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagggttaattcgcttccGtttatgggaggtccccttgc	14	9	0	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:80718735G>A	ENST00000299564.8	-	2	471	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.R106W|CDYL2_ENST00000563890.1_Missense_Mutation_p.R106W|CDYL2_ENST00000562812.1_Missense_Mutation_p.R106W	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	106						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						ATTCGCTTCCGTTTATGGGAG	0.557													False	0	True	16:80718735	0	A	80718735	G	A	80718735	3	1	22	1	0	0	0	0	1	0	0	0	3209	1144	40	1	1228	1	CDYL2	16	80718735	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	8580255	80718735	9636018	104	1817											
ZNF778	197320	broad.mit.edu	37	chr16	89294771	89294771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcacctgcataaacatgGaagaattcacactgggcaga	8	11	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:89294771G>A	ENST00000433976.2	+	6	2323	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.G622E	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CATAAACATGGAAGAATTCAC	0.403													False	0	False	16:89294771	0	A	89294771	G	A	89294771	3	1	22	1	0	0	0	0	1	0	0	0	18233	1174	41	2	2009	2	ZNF778	16	89294771	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	8576036	89294771	1059982	105	1818											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	12	13	1	0	rs28934575		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			False	0	False	17:7577548	0	T	7577548	C	T	7577548	3	4	22	1	0	0	0	0	1	0	0	0	16464	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		7577548	73617662	106	1819											
MYH10	4628	broad.mit.edu	37	chr17	8398511	8398511	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccttagcaaatttaatacCcttcttctctgcttcttcca	2	13	3	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:8398511C>A	ENST00000360416.3	-	31	4138	c.4000G>T	c.(4000-4002)Ggt>Tgt	p.G1334C	MYH10_ENST00000396239.1_Missense_Mutation_p.G1324C|MYH10_ENST00000379980.4_Missense_Mutation_p.G1319C|MYH10_ENST00000269243.4_Missense_Mutation_p.G1303C	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1303					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATTTAATACCCTTCTTCTCT	0.408													False	0	True	17:8398511	0	A	8398511	C	A	8398511	3	1	22	1	0	0	0	0	1	0	0	0	10097	623	22	3	2075	3	MYH10	17	8398511	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	820963	8398511	72796699	107	1820											
KCNJ12	3768	broad.mit.edu	37	chr17	21318787	21318787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggcgcaggtgccgcaacCgcttcgtcaagaagaatggc	14	13	1	2	rs144531040	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:21318787C>T	ENST00000583088.1	+	3	1028	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R45C	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GTGCCGCAACCGCTTCGTCAA	0.602										Prostate(3;0.18)			False	0	False	17:21318787	0	T	21318787	C	T	21318787	3	4	22	1	0	0	0	0	1	0	0	0	8096	652	23	1	135	1	KCNJ12	17	21318787	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	12920276	21318787	59876423	108	1821											
KIAA0100	9703	broad.mit.edu	37	chr17	26971150	26971150	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcggaaggagccaatctttaGctccgcctgcagcttccgct	11	14	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:26971150G>C	ENST00000528896.2	-	2	198	c.124C>G	c.(124-126)Cta>Gta	p.L42V	KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	42						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCAATCTTTAGCTCCGCCTGC	0.473											OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:26971150	0	C	26971150	G	C	26971150	3	2	22	1	0	0	0	0	1	0	0	0	8204	962	34	5	6735	5	KIAA0100	17	26971150	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	5652363	26971150	54224060	109	1822											
CDC27	996	broad.mit.edu	37	chr17	45206848	45206848	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacaatggctttgtttagggTatccaaagccttctctgatt	9	8	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:45206848T>A	ENST00000066544.3	-	16	2164	c.2071A>T	c.(2071-2073)Acc>Tcc	p.T691S	CDC27_ENST00000527547.1_Missense_Mutation_p.T690S|CDC27_ENST00000531206.1_Missense_Mutation_p.T697S|CDC27_ENST00000446365.2_Missense_Mutation_p.T630S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	691					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTGTTTAGGGTATCCAAAGCC	0.338													False	0	True	17:45206848	0	A	45206848	T	A	45206848	3	1	22	1	0	0	0	0	1	0	0	0	3089	1638	57	5	419	5	CDC27	17	45206848	Missense_Mutation	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08	18235698	45206848	35988362	110	1823											
SCRN2	90507	broad.mit.edu	37	chr17	45916852	45916852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctcccagctgtctccaGcacccacgcctcagtgcggt	10	18	2	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:45916852G>A	ENST00000407215.3	-	4	595	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	SCRN2_ENST00000290216.9_Silent_p.L172L|SCRN2_ENST00000584123.1_Silent_p.L180L			Q96FV2	SCRN2_HUMAN	secernin 2	172					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCTGTCTCCAGCACCCACGCC	0.622													False	0	False	17:45916852	0	A	45916852	G	A	45916852	2	1	22	1	0	0	0	0	0	0	0	1	14020	962	34	2		2	SCRN2	17	45916852	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	710004	45916852	35278358	111	1824											
PHOSPHO1	0	broad.mit.edu	37	chr17	47301945	47301945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acggccgcagagccagcagtCcccgcgcatccggccccgac	12	20	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:47301945C>A	ENST00000413580.1	-	3	959	c.542G>T	c.(541-543)gGa>gTa	p.G181V	PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.G181V|PHOSPHO1_ENST00000310544.4_Missense_Mutation_p.G156V	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	156					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	AGCCAGCAGTCCCCGCGCATC	0.701													False	0	True	17:47301945	0	A	47301945	C	A	47301945	3	1	22	1	0	0	0	0	1	0	0	0	11925	855	30	3	340	3	PHOSPHO1	17	47301945	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	1385093	47301945	33893265	112	1825											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917574	48917580	+	Frame_Shift_Del	DEL	CAGGCTG	CAGGCTG	-													tgtcggtggtcaggggtcatCaggctgcagccacctcagag							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CAGGCTG	CAGGCTG	-	-	CAGGCTG	CAGGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:48917574_48917580delCAGGCTG	ENST00000311378.4	+	2	1453_1459	c.925_931delCAGGCTG	c.(925-933)caggctgcafs	p.QAA309fs	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.QAA216fs	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	309						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	p.A311S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CAGGGGTCATCAGGCTGCAGCCACCTC	0.657													False	1	False	17:48917574	0	-	48917580	CAGGCTG	-	48917574	7	5	22	1	0	1	0	1	0	0	0	0	17443	827	29	0	931	0	WFIKKN2	17	48917574	Frame_Shift_Del	DEL	CAGGCTG	TCGA-3A-A9I9-01A-11D-A38G-08	1615629	48917574	32277636	113	1826											
MBTD1	0	broad.mit.edu	37	chr17	49272667	49272667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtaacagaaccagtcagatCcgtctgctgcttctgagcca	10	12	3	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:49272667C>T	ENST00000586178.1	-	13	1623	c.1280G>A	c.(1279-1281)gGa>gAa	p.G427E	MBTD1_ENST00000415868.1_Missense_Mutation_p.G427E|MBTD1_ENST00000376381.2_Intron	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	427					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CCAGTCAGATCCGTCTGCTGC	0.428													False	0	False	17:49272667	0	T	49272667	C	T	49272667	3	4	22	1	0	0	0	0	1	0	0	0	9427	855	30	2	626	2	MBTD1	17	49272667	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	355093	49272667	31922543	114	1827											
UTP18	51096	broad.mit.edu	37	chr17	49353296	49353296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctcatctgtgcagttccatCccggtgcacagattgtgatg	10	11	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:49353296C>A	ENST00000225298.7	+	6	838	c.781C>A	c.(781-783)Ccc>Acc	p.P261T		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	261					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GCAGTTCCATCCCGGTGCACA	0.383													False	0	True	17:49353296	0	A	49353296	C	A	49353296	3	1	22	1	0	0	0	0	1	0	0	0	17182	855	30	3	803	3	UTP18	17	49353296	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	80629	49353296	31841914	115	1828											
RNF213	57674	broad.mit.edu	37	chr17	78324169	78324169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattttgaagatggaatccGtagcgcccagctcattgcct	10	10	1	3			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:78324169G>A	ENST00000582970.1	+	31	10300	c.10157G>A	c.(10156-10158)cGt>cAt	p.R3386H	RNF213_ENST00000336301.6_Missense_Mutation_p.R1459H|RNF213_ENST00000508628.2_Missense_Mutation_p.R3435H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATGGAATCCGTAGCGCCCAG	0.353													False	0	False	17:78324169	0	A	78324169	G	A	78324169	3	1	22	1	0	0	0	0	1	0	0	0	13556	1145	40	1	10594	1	RNF213	17	78324169	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	28970873	78324169	2871041	116	1829											
PCYT2	5833	broad.mit.edu	37	chr17	79866869	79866869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcaccatcttgtatctctCctcctgagtgaacaccgggg	9	14	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:79866869C>T	ENST00000538936.2	-	3	331	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PCYT2_ENST00000331285.3_5'UTR|PCYT2_ENST00000570388.1_5'UTR|PCYT2_ENST00000570391.1_Missense_Mutation_p.E43K|PCYT2_ENST00000538721.2_Missense_Mutation_p.E75K|PCYT2_ENST00000571105.1_Missense_Mutation_p.E75K	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	75	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TTGTATCTCTCCTCCTGAGTG	0.592													False	0	True	17:79866869	0	T	79866869	C	T	79866869	3	4	22	1	0	0	0	0	1	0	0	0	11680	864	30	2	1048	2	PCYT2	17	79866869	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	1542700	79866869	1328341	117	1830											
DLGAP1	9229	broad.mit.edu	37	chr18	3879577	3879577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggctggccttgcccccGttgacgctgcccttggacgg	14	15	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr18:3879577G>A	ENST00000315677.3	-	4	1087	c.492C>T	c.(490-492)aaC>aaT	p.N164N	DLGAP1_ENST00000515196.2_Silent_p.N164N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Silent_p.N164N|DLGAP1_ENST00000581527.1_Silent_p.N164N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	164					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTTGCCCCCGTTGACGCTGC	0.711													False	0	True	18:3879577	0	A	3879577	G	A	3879577	2	1	22	1	0	0	0	0	0	0	0	1	4589	1136	40	1		1	DLGAP1	18	3879577	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08		3879577	74197671	118	1831											
FBN3	84467	broad.mit.edu	37	chr19	8190867	8190867	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgcaacgcccgttgggAcagactcccgggaaggactc	13	13	0	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:8190867A>G	ENST00000600128.1	-	22	3054	c.2640T>C	c.(2638-2640)tgT>tgC	p.C880C	FBN3_ENST00000270509.2_Silent_p.C880C|FBN3_ENST00000601739.1_Silent_p.C880C			Q75N90	FBN3_HUMAN	fibrillin 3	880	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCCGTTGGGACAGACTCCCG	0.637													False	0	True	19:8190867	0	G	8190867	A	G	8190867	2	3	22	1	0	0	0	0	0	0	0	1	5744	273	10	4		4	FBN3	19	8190867	Silent	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08		8190867	50938116	119	1832											
MUC16	94025	broad.mit.edu	37	chr19	9086442	9086457	+	Frame_Shift_Del	DEL	GCTGGACTCTGTCCTT	GCTGGACTCTGTCCTT	-													gtggacataagggtagctgaGctggactctgtccttgctga							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	GCTGGACTCTGTCCTT	GCTGGACTCTGTCCTT	-	-	GCTGGACTCTGTCCTT	GCTGGACTCTGTCCTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:9086442_9086457delGCTGGACTCTGTCCTT	ENST00000397910.4	-	1	5561_5576	c.5358_5373delAAGGACAGAGTCCAGC	c.(5356-5373)gcaaggacagagtccagcfs	p.ARTESS1786fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1786	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTAGCTGAGCTGGACTCTGTCCTTGCTGAAGACT	0.468													False	1	False	19:9086442	0	-	9086457	GCTGGACTCTGTCCTT	-	9086442	7	5	22	1	0	1	0	1	0	0	0	0	10040	962	34	0	38486	0	MUC16	19	9086442	Frame_Shift_Del	DEL	GCTGGACTCTGTCCTT	TCGA-3A-A9I9-01A-11D-A38G-08	895575	9086442	50042541	120	1833											
FBXL12	54850	broad.mit.edu	37	chr19	9921950	9921950	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaagcctctgcagatagctGagctcctgcaggccagcatc	10	14	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:9921950G>A	ENST00000247977.4	-	3	844	c.603C>T	c.(601-603)ctC>ctT	p.L201L	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000585379.1_Silent_p.L148L|FBXL12_ENST00000591009.1_Silent_p.L148L|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	201							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GCAGATAGCTGAGCTCCTGCA	0.667													False	0	False	19:9921950	0	A	9921950	G	A	9921950	2	1	22	1	0	0	0	0	0	0	0	1	5748	1277	45	2		2	FBXL12	19	9921950	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	835508	9921950	49207033	121	1834											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	22	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-3A-A9I9-01A-11D-A38G-08	4161717	14083667	45045316	122	1835											
RYR1	6261	broad.mit.edu	37	chr19	38937409	38937415	+	Splice_Site	DEL	GTAGGGC	GTAGGGC	-													ctggagccactgagaatcagGtagggcggggaagatgggga							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	GTAGGGC	GTAGGGC	-	-	GTAGGGC	GTAGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:38937409_38937415delGTAGGGC	ENST00000355481.4	+	9	931		c.e9+1		RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGAGAATCAGGTAGGGCGGGGAAGATG	0.575													False	1	True	19:38937409	0	-	38937415	GTAGGGC	-	38937409	8	5	22	1	0	1	0	1	0	0	1	0	13847	1275	44	0	835	0	RYR1	19	38937409	Splice_Site	DEL	GTAGGGC	TCGA-3A-A9I9-01A-11D-A38G-08	24853742	38937409	20191574	123	1836											
FCGBP	8857	broad.mit.edu	37	chr19	40408807	40408807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaggcacggatctggccGttggccagcaccacgggcag	17	12	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:40408807G>A	ENST00000221347.6	-	8	4039	c.4032C>T	c.(4030-4032)aaC>aaT	p.N1344N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1344	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGATCTGGCCGTTGGCCAGCA	0.587													False	0	False	19:40408807	0	A	40408807	G	A	40408807	2	1	22	1	0	0	0	0	0	0	0	1	5818	1136	40	1		1	FCGBP	19	40408807	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	1471398	40408807	18720176	124	1837											
MEGF8	1954	broad.mit.edu	37	chr19	42848986	42848986	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atacctcccagcctgacaagGtgggtaggaggcgtggccct	14	12	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:42848986G>C	ENST00000334370.4	+	12	2732		c.e12+1		MEGF8_ENST00000251268.6_Splice_Site	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8							integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCTGACAAGGTGGGTAGGAG	0.542													False	0	False	19:42848986	0	C	42848986	G	C	42848986	5	2	22	1	0	0	0	0	0	0	1	0	9530	1275	44	5	2144	5	MEGF8	19	42848986	Splice_Site	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	2440179	42848986	16279997	125	1838											
ZC3H4	23211	broad.mit.edu	37	chr19	47585472	47585472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagttctcagctctggcGcaaaatccagtgatgtaaaa	11	9	2	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:47585472G>A	ENST00000253048.5	-	10	1336	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	433							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CAGCTCTGGCGCAAAATCCAG	0.463													False	0	False	19:47585472	0	A	47585472	G	A	47585472	2	1	22	1	0	0	0	0	0	0	0	1	17653	1079	38	1		1	ZC3H4	19	47585472	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	4736486	47585472	11543511	126	1839											
PPP2R1A	5518	broad.mit.edu	37	chr19	52709296	52709296	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctaccctggtgggaggcccaGagtacgtgcactgcctgctg	14	13	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:52709296G>C	ENST00000322088.6	+	3	308	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Intron	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	84	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GGGAGGCCCAGAGTACGTGCA	0.607			Mis		clear cell ovarian carcinoma								False	0	False	19:52709296	0	C	52709296	G	C	52709296	3	2	22	1	0	0	0	0	1	0	0	0	12456	943	33	5	260	5	PPP2R1A	19	52709296	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	5123824	52709296	6419687	127	1840											
BLCAP	10904	broad.mit.edu	37	chr20	36147320	36147320	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acagggcaggccgttaggtgCccacaacgccgggatcatgc	14	13	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:36147320C>G	ENST00000414542.2	-	3	704	c.257G>C	c.(256-258)gGc>gCc	p.G86A	BLCAP_ENST00000397137.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397134.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397131.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397135.1_Missense_Mutation_p.G86A|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000373537.2_Missense_Mutation_p.G86A	NM_001167820.1|NM_001167823.1	NP_001161292.1|NP_001161295.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	86					apoptosis|cell cycle	integral to membrane				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				CCGTTAGGTGCCCACAACGCC	0.552													False	0	True	20:36147320	0	G	36147320	C	G	36147320	3	3	22	1	0	0	0	0	1	0	0	0	1447	739	26	5	10	5	BLCAP	20	36147320	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		36147320	26878200	128	1841											
KCNK15	60598	broad.mit.edu	37	chr20	43374752	43374752	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagctggagcgcctggcgctCcaggctgagccccaccgcgc	15	17	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:43374752C>A	ENST00000372861.3	+	1	332	c.201C>A	c.(199-201)ctC>ctA	p.L67L		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	67						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GCCTGGCGCTCCAGGCTGAGC	0.692													False	0	False	20:43374752	0	A	43374752	C	A	43374752	2	1	22	1	0	0	0	0	0	0	0	1	8112	842	30	3		3	KCNK15	20	43374752	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	7227432	43374752	19650768	129	1842											
DIDO1	11083	broad.mit.edu	37	chr20	61512310	61512310	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaagccgggctgcagggcGccgcaaggcggtgtgggcag	22	10	0	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:61512310G>T	ENST00000266070.4	-	16	5323	c.4998C>A	c.(4996-4998)ggC>ggA	p.G1666G	DIDO1_ENST00000395343.1_Silent_p.G1666G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1666					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTGCAGGGCGCCGCAAGGCG	0.726													False	0	False	20:61512310	0	T	61512310	G	T	61512310	2	4	22	1	0	0	0	0	0	0	0	1	4552	1074	38	3		3	DIDO1	20	61512310	Silent	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	18137558	61512310	1513210	130	1843											
BRWD1	54014	broad.mit.edu	37	chr21	40571514	40571514	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccagtctccaatgaatTgttatcagaatcacttaaat	4	9	4	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr21:40571514T>A	ENST00000342449.3	-	40	4906	c.4828A>T	c.(4828-4830)Aat>Tat	p.N1610Y	BRWD1_ENST00000380800.3_Missense_Mutation_p.N1610Y|BRWD1_ENST00000333229.2_Missense_Mutation_p.N1610Y	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1610					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCCAATGAATTGTTATCAGAA	0.373											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	21:40571514	0	A	40571514	T	A	40571514	3	1	22	1	0	0	0	0	1	0	0	0	1532	1812	63	5	2385	5	BRWD1	21	40571514	Missense_Mutation	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08		40571514	7558381	131	1844											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047922	46047922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgccctgtgtgctcccgCccggcctgctacagcttctc	10	19	1	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr21:46047922C>T	ENST00000397911.3	+	1	883	c.834C>T	c.(832-834)cgC>cgT	p.R278R	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	278						keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TGTGCTCCCGCCCGGCCTGCT	0.692													False	0	True	21:46047922	0	T	46047922	C	T	46047922	2	4	22	1	0	0	0	0	0	0	0	1	8566	726	26	2		2	KRTAP10-9	21	46047922	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	5476408	46047922	2081973	132	1845											
CACNG2	10369	broad.mit.edu	37	chr22	36962506	36962506	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgaaaagcagaatcacactCaggattgggaaaatgctgga	11	6	2	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr22:36962506C>A	ENST00000300105.6	-	3	1311	c.330G>T	c.(328-330)ctG>ctT	p.L110L		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	110					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GAATCACACTCAGGATTGGGA	0.552													False	0	False	22:36962506	0	A	36962506	C	A	36962506	2	1	22	1	0	0	0	0	0	0	0	1	2577	813	29	3		3	CACNG2	22	36962506	Silent	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08		36962506	14342060	133	1846											
ZNF157	7712	broad.mit.edu	37	chrX	47272834	47272834	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgccttctatgtgaaAgtacgcctcattgaacatca	8	9	3	2			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:47272834A>T	ENST00000377073.3	+	4	1448	c.1362A>T	c.(1360-1362)aaA>aaT	p.K454N		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	454					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCTATGTGAAAGTACGCCTCA	0.438													False	0	True	X:47272834	0	T	47272834	A	T	47272834	3	4	22	1	0	0	0	0	1	0	0	0	17820	69	3	5	1376	5	ZNF157	23	47272834	Missense_Mutation	SNP	A	TCGA-3A-A9I9-01A-11D-A38G-08		47272834	107997726	134	1847											
ELK1	2002	broad.mit.edu	37	chrX	47498346	47498346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaggcctccaaggggcttGgactggtgctcctgctcccc	13	15	0	0			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:47498346G>A	ENST00000247161.3	-	3	701	c.602C>T	c.(601-603)cCa>cTa	p.P201L	ELK1_ENST00000376983.3_Missense_Mutation_p.P201L|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.P147L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	201					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CAAGGGGCTTGGACTGGTGCT	0.632													False	0	False	X:47498346	0	A	47498346	G	A	47498346	3	1	22	1	0	0	0	0	1	0	0	0	5091	1348	47	2	700	2	ELK1	23	47498346	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	225512	47498346	107772214	135	1848											
SHROOM4	57477	broad.mit.edu	37	chrX	50350791	50350791	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcttctgctgctgggcTgcacgaaagagcctgtactt	12	11	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:50350791T>C	ENST00000376020.2	-	6	3376	c.3351A>G	c.(3349-3351)gcA>gcG	p.A1117A	SHROOM4_ENST00000460112.3_Silent_p.A1001A|SHROOM4_ENST00000289292.7_Silent_p.A1117A	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1117					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					gctgctgGGCTGCACGAAAGA	0.577													False	0	False	X:50350791	0	C	50350791	T	C	50350791	2	2	22	1	0	0	0	0	0	0	0	1	14377	1567	55	4		4	SHROOM4	23	50350791	Silent	SNP	T	TCGA-3A-A9I9-01A-11D-A38G-08	2852445	50350791	104919769	136	1849											
MAGED2	10916	broad.mit.edu	37	chrX	54841940	54841940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagagtggcagtgccagcaCtggtgccagtaccagtacca	13	11	0	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:54841940C>A	ENST00000375068.1	+	12	1879	c.1646C>A	c.(1645-1647)aCt>aAt	p.T549N	MAGED2_ENST00000375058.1_Missense_Mutation_p.T549N|MAGED2_ENST00000218439.4_Missense_Mutation_p.T549N|MAGED2_ENST00000347546.3_Missense_Mutation_p.T493N|MAGED2_ENST00000343474.6_Missense_Mutation_p.T531N|MAGED2_ENST00000375053.2_Missense_Mutation_p.T549N|MAGED2_ENST00000375062.4_Missense_Mutation_p.T464N|MAGED2_ENST00000396224.1_Missense_Mutation_p.T549N|MAGED2_ENST00000375060.1_Missense_Mutation_p.T464N			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	549										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						agtgccagcactggtgccagt	0.597													False	0	False	X:54841940	0	A	54841940	C	A	54841940	3	1	22	1	0	0	0	0	1	0	0	0	9251	565	20	3	1688	3	MAGED2	23	54841940	Missense_Mutation	SNP	C	TCGA-3A-A9I9-01A-11D-A38G-08	4491149	54841940	100428620	137	1850											
NONO	4841	broad.mit.edu	37	chrX	70514254	70514255	+	Frame_Shift_Ins	INS	-	-	AGATC													tgtgtttggccaggtagagaINSgggctgtagtcattgtggat							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:70514254_70514255insAGATC	ENST00000276079.8	+	5	731_732	c.526_527insAGATC	c.(526-528)aggfs	p.R176fs	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Frame_Shift_Ins_p.R87fs|NONO_ENST00000373841.1_Frame_Shift_Ins_p.R176fs|NONO_ENST00000373856.3_Frame_Shift_Ins_p.R176fs	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	176	DBHS.|RRM 2.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCAGGTAGAGAGGGCTGTAGTC	0.51			T	TFE3	papillary renal cancer								False	0	True	X:70514254	0	AGATC	70514255	-	AGATC	70514254	7	5	22	1	0	1	1	0	0	0	0	0	10602	295	11	0	536	0	NONO	23	70514254	Frame_Shift_Ins	INS	-	TCGA-3A-A9I9-01A-11D-A38G-08	15672314	70514254	84756306	138	1851	17	2									
NONO	4841	broad.mit.edu	37	chrX	70514256	70514257	+	Frame_Shift_Ins	INS	-	-	AAGA													tgtttggccaggtagagaggINSgctgtagtcattgtggatga							TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:70514256_70514257insAAGA	ENST00000276079.8	+	5	733_734	c.528_529insAAGA	c.(529-531)gctfs	p.A177fs	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Frame_Shift_Ins_p.A88fs|NONO_ENST00000373841.1_Frame_Shift_Ins_p.A177fs|NONO_ENST00000373856.3_Frame_Shift_Ins_p.A177fs	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	177	DBHS.|RRM 2.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGGTAGAGAGGGCTGTAGTCAT	0.51			T	TFE3	papillary renal cancer								False	0	True	X:70514256	0	AAGA	70514257	-	AAGA	70514256	7	5	22	1	0	1	1	0	0	0	0	0	10602	1223	43	0	538	0	NONO	23	70514256	Frame_Shift_Ins	INS	-	TCGA-3A-A9I9-01A-11D-A38G-08	2	70514256	84756304	139	1852	17	2									
GPR50	9248	broad.mit.edu	37	chrX	150345311	150345311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgatggttatcaccatcGttgtagacctaatcggcaac	10	11	1	1			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:150345311G>A	ENST00000218316.3	+	1	187	c.118G>A	c.(118-120)Gtt>Att	p.V40I	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	40					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TATCACCATCGTTGTAGACCT	0.512													False	0	False	X:150345311	0	A	150345311	G	A	150345311	3	1	22	1	0	0	0	0	1	0	0	0	6743	1145	40	1	120	1	GPR50	23	150345311	Missense_Mutation	SNP	G	TCGA-3A-A9I9-01A-11D-A38G-08	79831055	150345311	4925249	140	1853											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887241	12887241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgctctggggaaacgtagcGagagacatccatgtgggaga	15	8	1	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:12887241G>A	ENST00000535591.1	-	3	811	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	206										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAACGTAGCGAGAGACATCC	0.493													False	0	True	1:12887241	0	A	12887241	G	A	12887241	3	1	23	1	0	0	0	0	1	0	0	0	12501	1058	37	1	702	1	PRAMEF11	1	12887241	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		12887241	236363380	1	1854											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	23	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-3A-A9IB-01A-21D-A397-08	10100144	22987385	226263236	2	1855											
WDR78	79819	broad.mit.edu	37	chr1	67303362	67303362	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattttgtcaacagccagaTaaaaatgcttcttattcttg	6	7	3	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:67303362T>G	ENST00000371023.3	-	10	1620	c.1612A>C	c.(1612-1614)Atc>Ctc	p.I538L	WDR78_ENST00000431318.1_Intron|WDR78_ENST00000371026.3_Intron	NM_207014.2	NP_996897.2	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	0										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AACAGCCAGATAAAAATGCTT	0.299													False	0	True	1:67303362	0	G	67303362	T	G	67303362	3	3	23	1	0	0	0	0	1	0	0	0	17412	1406	49	4	1023	4	WDR78	1	67303362	Missense_Mutation	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08	44315977	67303362	181947259	3	1856											
AMPD2	271	broad.mit.edu	37	chr1	110172959	110172959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcaccggaatccgctaccGgagtacctgtcccgcggcct	10	16	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:110172959G>A	ENST00000256578.3	+	16	2610	c.2250G>A	c.(2248-2250)ccG>ccA	p.P750P	AMPD2_ENST00000528454.1_Silent_p.P632P|AMPD2_ENST00000342115.4_Silent_p.P669P|AMPD2_ENST00000528667.1_Silent_p.P750P|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Silent_p.P675P|AMPD2_ENST00000393688.3_Silent_p.P631P	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	750					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCCGCTACCGGAGTACCTGT	0.617													False	0	False	1:110172959	0	A	110172959	G	A	110172959	2	1	23	1	0	0	0	0	0	0	0	1	586	1103	39	1		1	AMPD2	1	110172959	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	42869597	110172959	139077662	4	1857											
DENND2D	79961	broad.mit.edu	37	chr1	111734941	111734942	+	Splice_Site	INS	-	-	AGATCGGAA													atgcactgagacaaggtgctINSgggacagagcacagaggatg							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:111734941_111734942insAGATCGGAA	ENST00000357640.4	-	8	1024		c.e8-2		DENND2D_ENST00000369752.5_Splice_Site	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D											breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GACAAGGTGCTGGGACAGAGCA	0.614													False	0	True	1:111734941	0	AGATCGGAA	111734942	-	AGATCGGAA	111734941	8	5	23	1	0	1	1	0	0	0	1	0	4461	1594	55	0	642	0	DENND2D	1	111734941	Splice_Site	INS	-	TCGA-3A-A9IB-01A-21D-A397-08	1561982	111734941	137515680	5	1858											
FLG2	388698	broad.mit.edu	37	chr1	152327955	152327955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaactgtgttggccataGctagactgacctgatctaga	10	10	1	5			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517													False	0	False	1:152327955	0	A	152327955	G	A	152327955	2	1	23	1	0	0	0	0	0	0	0	1	5963	962	34	2		2	FLG2	1	152327955	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	40593014	152327955	96922666	6	1859											
GPR161	23432	broad.mit.edu	37	chr1	168066276	168066276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaccagatctgccagaagGccgtgtagccaggctcccgg	12	15	1	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:168066276G>A	ENST00000367838.1	-	5	882	c.569C>T	c.(568-570)gCc>gTc	p.A190V	GPR161_ENST00000367836.1_Missense_Mutation_p.A58V|GPR161_ENST00000539777.1_Missense_Mutation_p.A112V|GPR161_ENST00000367835.1_Missense_Mutation_p.A190V|GPR161_ENST00000271357.5_Missense_Mutation_p.A190V|GPR161_ENST00000537209.1_Missense_Mutation_p.A210V|GPR161_ENST00000546300.1_Missense_Mutation_p.A76V|GPR161_ENST00000361697.2_Missense_Mutation_p.A190V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	190					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CTGCCAGAAGGCCGTGTAGCC	0.592													False	0	False	1:168066276	0	A	168066276	G	A	168066276	3	1	23	1	0	0	0	0	1	0	0	0	6711	1203	42	2	1036	2	GPR161	1	168066276	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	15738321	168066276	81184345	7	1860											
EPHX1	2052	broad.mit.edu	37	chr1	226032215	226032215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggaagttctccctggacGacctgctgaccaacgtcatg	10	14	2	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:226032215G>A	ENST00000366837.4	+	8	1253	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.D353N	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	353					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTCCCTGGACGACCTGCTGAC	0.552													False	0	False	1:226032215	0	A	226032215	G	A	226032215	3	1	23	1	0	0	0	0	1	0	0	0	5211	1058	37	1	1083	1	EPHX1	1	226032215	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	57965939	226032215	23218406	8	1861											
OSR1	130497	broad.mit.edu	37	chr2	19552943	19552943	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcctccggaaggctttgtgGcagatgtcacaggtgtaggg	16	8	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:19552943G>T	ENST00000536433.1	-	1	3734	c.624C>A	c.(622-624)tgC>tgA	p.C208*	OSR1_ENST00000272223.2_Nonsense_Mutation_p.C208*			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	208					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AGGCTTTGTGGCAGATGTCAC	0.597													False	0	False	2:19552943	0	T	19552943	G	T	19552943	4	4	23	1	0	0	0	0	0	1	0	0	11361	1195	42	3	184	3	OSR1	2	19552943	Nonsense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		19552943	223646430	9	1862											
LTBP1	4052	broad.mit.edu	37	chr2	33487847	33487847	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctggtcaaccccagctgtCtccaggcatttccactattc	7	16	2	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:33487847C>T	ENST00000404816.2	+	14	2830	c.2477C>T	c.(2476-2478)tCt>tTt	p.S826F	LTBP1_ENST00000407925.1_Missense_Mutation_p.S500F|LTBP1_ENST00000402934.1_Missense_Mutation_p.S447F|LTBP1_ENST00000354476.3_Missense_Mutation_p.S826F|LTBP1_ENST00000404525.1_Missense_Mutation_p.S447F|LTBP1_ENST00000418533.2_Missense_Mutation_p.S500F|LTBP1_ENST00000390003.4_Missense_Mutation_p.S500F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	826					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCCCAGCTGTCTCCAGGCATT	0.398													False	0	False	2:33487847	0	T	33487847	C	T	33487847	3	4	23	1	0	0	0	0	1	0	0	0	9135	913	32	2	2586	2	LTBP1	2	33487847	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	13934904	33487847	209711526	10	1863											
AAK1	22848	broad.mit.edu	37	chr2	69741760	69741765	+	In_Frame_Del	DEL	TGTTGC	TGTTGC	-													gctgttgctgttgctgttgtTgttgctgctgctgctgctgc					rs77547121		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	TGTTGC	TGTTGC	-	-	TGTTGC	TGTTGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:69741760_69741765delTGTTGC	ENST00000409085.4	-	13	1990_1995	c.1614_1619delGCAACA	c.(1612-1620)cagcaacaa>caa	p.538_540QQQ>Q	AAK1_ENST00000406297.3_In_Frame_Del_p.538_540QQQ>Q|AAK1_ENST00000409068.1_In_Frame_Del_p.538_540QQQ>Q	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	538	Gln-rich.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.Q538Q(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ttgctgttgttgttgctgctgctgct	0.544													False	1	True	2:69741760	0	-	69741765	TGTTGC	-	69741760	7	5	23	1	0	1	0	1	0	0	0	0	16	1812	63	0	1306	0	AAK1	2	69741760	In_Frame_Del	DEL	TGTTGC	TCGA-3A-A9IB-01A-21D-A397-08	36253913	69741760	173457613	11	1864											
GPAT2	150763	broad.mit.edu	37	chr2	96690527	96690527	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgcaccccctaccttctgAtgcttgaagagcagcagcgt	9	13	1	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:96690527A>G	ENST00000434632.1	-	15	1881	c.1422T>C	c.(1420-1422)caT>caC	p.H474H	GPAT2_ENST00000377137.3_Silent_p.H474H|GPAT2_ENST00000359548.4_Silent_p.H474H|GPAT2_ENST00000453542.1_Silent_p.H403H			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	474					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTACCTTCTGATGCTTGAAGA	0.652													False	0	False	2:96690527	0	G	96690527	A	G	96690527	2	3	23	1	0	0	0	0	0	0	0	1	6635	330	12	4		4	GPAT2	2	96690527	Silent	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08	26948767	96690527	146508846	12	1865											
CNGA3	1261	broad.mit.edu	37	chr2	99012788	99012788	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctctttgtggtcgtagacttCttggtgggtgttctgatttt	12	6	3	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:99012788C>G	ENST00000393504.1	+	8	1572	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L	CNGA3_ENST00000436404.2_Missense_Mutation_p.F367L|CNGA3_ENST00000409937.1_Missense_Mutation_p.F389L|CNGA3_ENST00000272602.2_Missense_Mutation_p.F385L	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	385					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCGTAGACTTCTTGGTGGGTG	0.498													False	0	False	2:99012788	0	G	99012788	C	G	99012788	3	3	23	1	0	0	0	0	1	0	0	0	3621	912	32	5	1181	5	CNGA3	2	99012788	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	2322261	99012788	144186585	13	1866											
BUB1	699	broad.mit.edu	37	chr2	111425242	111425242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgccaaagatgagtgcaCagaatattctgatttagaaa	10	5	1	5			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:111425242C>T	ENST00000535254.1	-	7	668	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	BUB1_ENST00000302759.6_Missense_Mutation_p.V221M|BUB1_ENST00000409311.1_Missense_Mutation_p.V221M	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	221					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.V221_S227>S(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GATGAGTGCACAGAATATTCT	0.368													False	0	False	2:111425242	0	T	111425242	C	T	111425242	3	4	23	1	0	0	0	0	1	0	0	0	1577	478	17	2	2668	2	BUB1	2	111425242	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	12412454	111425242	131774131	14	1867											
LY75	4065	broad.mit.edu	37	chr2	160738720	160738720	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctactgaaggctttgcatttCgcatgtgccttatcccagga	9	11	0	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:160738720C>A	ENST00000263636.4	-	7	1188	c.1161G>T	c.(1159-1161)gcG>gcT	p.A387A	LY75_ENST00000553424.1_Silent_p.A387A|LY75-CD302_ENST00000504764.1_Silent_p.A387A|LY75-CD302_ENST00000505052.1_Silent_p.A387A|LY75_ENST00000554112.1_Silent_p.A387A	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTTTGCATTTCGCATGTGCCT	0.423													False	0	True	2:160738720	0	A	160738720	C	A	160738720	2	1	23	1	0	0	0	0	0	0	0	1	9162	871	31	3		3	LY75	2	160738720	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	49313478	160738720	82460653	15	1868											
SCN3A	6328	broad.mit.edu	37	chr2	165950907	165950907	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgggcgaggtatgggtttctGaggtttcttggatccaagtt	15	5	2	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:165950907G>C	ENST00000360093.3	-	26	5004	c.4513C>G	c.(4513-4515)Cag>Gag	p.Q1505E	SCN3A_ENST00000409101.3_Missense_Mutation_p.Q1456E|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q1505E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1505						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATGGGTTTCTGAGGTTTCTTG	0.388													False	0	False	2:165950907	0	C	165950907	G	C	165950907	3	2	23	1	0	0	0	0	1	0	0	0	13999	1299	45	5	1501	5	SCN3A	2	165950907	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	5212187	165950907	77248466	16	1869											
LRP2	4036	broad.mit.edu	37	chr2	170115538	170115538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgaacacacttacccgGcaaaaggatgaactaccacc	6	13	0	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:170115538G>A	ENST00000263816.3	-	17	2795	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V	LRP2_ENST00000443831.1_Missense_Mutation_p.A700V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	837					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACTTACCCGGCAAAAGGATG	0.403													False	0	False	2:170115538	0	A	170115538	G	A	170115538	3	1	23	1	0	0	0	0	1	0	0	0	9018	1203	42	2	11709	2	LRP2	2	170115538	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	4164631	170115538	73083835	17	1870											
ITGA6	0	broad.mit.edu	37	chr2	173356027	173356027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggcgtctcttattttgCgctcgaggttatggaacagc	12	9	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:173356027C>T	ENST00000375221.2	+	23	3177	c.2974C>T	c.(2974-2976)Cgc>Tgc	p.R992C	ITGA6_ENST00000264106.6_Missense_Mutation_p.R992C|ITGA6_ENST00000409532.1_Missense_Mutation_p.R834C|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409080.1_Missense_Mutation_p.R953C|ITGA6_ENST00000264107.7_Missense_Mutation_p.R953C|ITGA6_ENST00000343713.4_Missense_Mutation_p.R948C			P23229	ITA6_HUMAN	integrin, alpha 6	992					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTTATTTTGCGCTCGAGGTT	0.493													False	0	False	2:173356027	0	T	173356027	C	T	173356027	3	4	23	1	0	0	0	0	1	0	0	0	7930	768	27	1	2943	1	ITGA6	2	173356027	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	3240489	173356027	69843346	18	1871											
HSPE1	3336	broad.mit.edu	37	chr2	198367975	198367975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacattcttggaaagtacGtagactgaaataagtcacta	9	6	2	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:198367975G>A	ENST00000233893.5	+	4	744	c.301G>A	c.(301-303)Gta>Ata	p.V101I	HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409468.1_3'UTR|HSPE1-MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I	NM_002157.2	NP_002148.1			heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			TGGAAAGTACGTAGACTGAAA	0.328													False	0	False	2:198367975	0	A	198367975	G	A	198367975	3	1	23	1	0	0	0	0	1	0	0	0	7479	1145	40	1	315	1	HSPE1	2	198367975	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	25011948	198367975	44831398	19	1872											
FANCD2	2177	broad.mit.edu	37	chr3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttctgaagcaatgtatgCcgctcctagacttcagtttt	7	10	2	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:10136015C>T	ENST00000287647.3	+	40	4024	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	3:10136015	0	T	10136015	C	T	10136015	3	4	23	1	0	0	0	0	1	0	0	0	5705	739	26	2	4085	2	FANCD2	3	10136015	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08		10136015	187886415	20	1873											
FBXO40	51725	broad.mit.edu	37	chr3	121341863	121341863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccatttccgtcccccaggGcaaaaggcaaaagtaatcta	7	12	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:121341863G>A	ENST00000338040.4	+	3	2001	c.1587G>A	c.(1585-1587)ggG>ggA	p.G529G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	529					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTCCCCCAGGGCAAAAGGCAA	0.498													False	0	True	3:121341863	0	A	121341863	G	A	121341863	2	1	23	1	0	0	0	0	0	0	0	1	5789	1190	42	2		2	FBXO40	3	121341863	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	111205848	121341863	76680567	21	1874											
MYLK	4638	broad.mit.edu	37	chr3	123333078	123333078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttggcatcgtcatccccGcaaacatcactaataattaa	4	12	2	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:123333078G>A	ENST00000360772.3	-	34	5844	c.5466C>T	c.(5464-5466)tgC>tgT	p.C1822C	MYLK_ENST00000475616.1_Silent_p.C1873C|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000583087.1_Silent_p.C113C|MYLK_ENST00000354792.5_Silent_p.C673C|MYLK_ENST00000360304.3_Silent_p.C1873C|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000578202.1_Silent_p.C112C|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000359169.1_Silent_p.C1822C|MYLK_ENST00000418370.2_Silent_p.C113C|MYLK_ENST00000346322.5_Silent_p.C1804C			Q15746	MYLK_HUMAN	myosin light chain kinase	1873	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGTCATCCCCGCAAACATCAC	0.498													False	0	True	3:123333078	0	A	123333078	G	A	123333078	2	1	23	1	0	0	0	0	0	0	0	1	10123	1079	38	1		1	MYLK	3	123333078	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	1991215	123333078	74689352	22	1875											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	11	14	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572													False	0	True	3:129370592	0	A	129370592	T	A	129370592	3	1	23	1	0	0	0	0	1	0	0	0	16074	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08	6037514	129370592	68651838	23	1876											
P2RY1	5028	broad.mit.edu	37	chr3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaatgacagggtttatgCcacgtatcaggtgacaagag	11	7	2	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478													False	0	False	3:152554482	0	T	152554482	C	T	152554482	3	4	23	1	0	0	0	0	1	0	0	0	11414	739	26	2	913	2	P2RY1	3	152554482	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	23183890	152554482	45467948	24	1877											
ACAP2	23527	broad.mit.edu	37	chr3	195027329	195027329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagcttttcggaatctgCctggagcatgcaacttctaa	10	11	2	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:195027329C>T	ENST00000326793.6	-	13	1257	c.1027G>A	c.(1027-1029)Gca>Aca	p.A343T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	343	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TCGGAATCTGCCTGGAGCATG	0.403													False	0	False	3:195027329	0	T	195027329	C	T	195027329	3	4	23	1	0	0	0	0	1	0	0	0	119	739	26	2	1353	2	ACAP2	3	195027329	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	42472847	195027329	2995101	25	1878											
LRCH3	84859	broad.mit.edu	37	chr3	197562598	197562598	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acagctgcaccgcagaggaaGaggaggccgaggtgagacag	17	9	0	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:197562598G>C	ENST00000438796.2	+	9	1200	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	LRCH3_ENST00000425562.2_Missense_Mutation_p.E386Q|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000334859.4_Missense_Mutation_p.E386Q|LRCH3_ENST00000414675.2_Missense_Mutation_p.E386Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E260Q			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	386	Poly-Glu.					extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CGCAGAGGAAGAGGAGGCCGA	0.502													False	0	True	3:197562598	0	C	197562598	G	C	197562598	3	2	23	1	0	0	0	0	1	0	0	0	8996	943	33	5	1190	5	LRCH3	3	197562598	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	2535269	197562598	459832	26	1879											
CCDC149	91050	broad.mit.edu	37	chr4	24839847	24839847	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcaaagtgtcgcacgccGattgcttcgtctccgagcct	11	14	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:24839847G>A	ENST00000504487.1	-	5	426	c.420C>T	c.(418-420)atC>atT	p.I140I	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000389609.4_Silent_p.I140I|CCDC149_ENST00000502801.1_Intron	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	140										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				GTCGCACGCCGATTGCTTCGT	0.483													False	0	False	4:24839847	0	A	24839847	G	A	24839847	2	1	23	1	0	0	0	0	0	0	0	1	2803	1048	37	1		1	CCDC149	4	24839847	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		24839847	166314429	27	1880											
CHRNA9	55584	broad.mit.edu	37	chr4	40351405	40351405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtggcagaaatcatgcCggcctcagaaaatgtgcccc	11	11	2	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:40351405C>T	ENST00000310169.2	+	4	1011	c.872C>T	c.(871-873)cCg>cTg	p.P291L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	291					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GAAATCATGCCGGCCTCAGAA	0.512													False	0	False	4:40351405	0	T	40351405	C	T	40351405	3	4	23	1	0	0	0	0	1	0	0	0	3412	652	23	1	886	1	CHRNA9	4	40351405	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	15511558	40351405	150802871	28	1881											
UBA6	55236	broad.mit.edu	37	chr4	68501258	68501258	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatctaaaagaggcctTagatttgctaagcaacgact	8	9	1	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:68501258T>C	ENST00000322244.5	-	20	1814	c.1755A>G	c.(1753-1755)ctA>ctG	p.L585L		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAAGAGGCCTTAGATTTGCTA	0.358													False	0	False	4:68501258	0	C	68501258	T	C	68501258	2	2	23	1	0	0	0	0	0	0	0	1	16916	1741	61	4		4	UBA6	4	68501258	Silent	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08	28149853	68501258	122653018	29	1882											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	23	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-3A-A9IB-01A-21D-A397-08		78610444	102304816	30	1883											
PCDHB7	0	broad.mit.edu	37	chr5	140554443	140554443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacctgcggctcccggaggCggccccggaccaggccaact	13	18	0	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:140554443C>T	ENST00000231137.3	+	1	2201	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		676					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCGGAGGCGGCCCCGGAC	0.692													False	0	False	5:140554443	0	T	140554443	C	T	140554443	3	4	23	1	0	0	0	0	1	0	0	0	11615	768	27	1	2029	1	PCDHB7	5	140554443	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	61943999	140554443	40360817	31	1884											
GEMIN5	25929	broad.mit.edu	37	chr5	154292538	154292538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacactggtaatcttggccGtatgccctgagagggtccgg	13	12	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:154292538G>A	ENST00000285873.7	-	14	1991	c.1916C>T	c.(1915-1917)aCg>aTg	p.T639M		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	639					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATCTTGGCCGTATGCCCTGA	0.522													False	0	False	5:154292538	0	A	154292538	G	A	154292538	3	1	23	1	0	0	0	0	1	0	0	0	6376	1145	40	1	2670	1	GEMIN5	5	154292538	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	13738095	154292538	26622722	32	1885											
DOCK2	1794	broad.mit.edu	37	chr5	169446049	169446049	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgagctccggaaagcCaccataccaatcttcttcga	9	13	2	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:169446049C>A	ENST00000256935.8	+	33	3398	c.3318C>A	c.(3316-3318)gcC>gcA	p.A1106A	DOCK2_ENST00000520908.1_Silent_p.A598A|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.A167A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1106	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCGGAAAGCCACCATACCAA	0.453													False	0	False	5:169446049	0	A	169446049	C	A	169446049	2	1	23	1	0	0	0	0	0	0	0	1	4717	581	21	3		3	DOCK2	5	169446049	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	15153511	169446049	11469211	33	1886											
CDHR2	54825	broad.mit.edu	37	chr5	176003158	176003158	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatccccatcgatgaccTcaccatggtggtctacgacc	8	17	2	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:176003158T>A	ENST00000510636.1	+	12	1440	c.1166T>A	c.(1165-1167)cTc>cAc	p.L389H	CDHR2_ENST00000261944.5_Missense_Mutation_p.L389H|CDHR2_ENST00000506348.1_Missense_Mutation_p.L389H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	389	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATCGATGACCTCACCATGGTG	0.667													False	0	False	5:176003158	0	A	176003158	T	A	176003158	3	1	23	1	0	0	0	0	1	0	0	0	3142	1551	54	5	1208	5	CDHR2	5	176003158	Missense_Mutation	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08	6557109	176003158	4912102	34	1887											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	23	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-3A-A9IB-01A-21D-A397-08		7393450	163721617	35	1888											
NUP153	9972	broad.mit.edu	37	chr6	17669530	17669530	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaatctcaacttacagaattCagaggagaagaaacaatgga	8	6	2	4			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:17669530C>T	ENST00000262077.2	-	7	1007	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	NUP153_ENST00000537253.1_Silent_p.L336L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	336					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTACAGAATTCAGAGGAGAAG	0.328													False	0	False	6:17669530	0	T	17669530	C	T	17669530	2	4	23	1	0	0	0	0	0	0	0	1	10823	813	29	2		2	NUP153	6	17669530	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	10276080	17669530	153445537	36	1889											
TAP1	6890	broad.mit.edu	37	chr6	32818230	32818230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcgaactgtaggcatggccGacagagcctcaatggccacc	11	13	1	1	rs147332077		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:32818230G>A	ENST00000354258.4	-	5	1456	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.S171L	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	432	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						AGGCATGGCCGACAGAGCCTC	0.532													False	0	False	6:32818230	0	A	32818230	G	A	32818230	3	1	23	1	0	0	0	0	1	0	0	0	15632	1059	37	1	1159	1	TAP1	6	32818230	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	15148700	32818230	138296837	37	1890											
DDX43	55510	broad.mit.edu	37	chr6	74115486	74115486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacctgcacatttgatgaCgcctttcaatgttatcctga	6	12	1	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:74115486C>T	ENST00000370336.4	+	6	893	c.735C>T	c.(733-735)gaC>gaT	p.D245D	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	245						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CATTTGATGACGCCTTTCAAT	0.353													False	0	False	6:74115486	0	T	74115486	C	T	74115486	2	4	23	1	0	0	0	0	0	0	0	1	4388	535	19	1		1	DDX43	6	74115486	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	41297256	74115486	96999581	38	1891											
TTK	7272	broad.mit.edu	37	chr6	80720617	80720617	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaaattgccctgcggAatttaaacctccaaaaaaag	8	9	0	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:80720617A>T	ENST00000509894.1	+	5	1385	c.556A>T	c.(556-558)Aat>Tat	p.N186Y	TTK_ENST00000230510.3_Missense_Mutation_p.N186Y|TTK_ENST00000369798.2_Missense_Mutation_p.N186Y			P33981	TTK_HUMAN	TTK protein kinase	186					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGCCCTGCGGAATTTAAACCT	0.363													False	0	False	6:80720617	0	T	80720617	A	T	80720617	3	4	23	1	0	0	0	0	1	0	0	0	16804	246	9	5	570	5	TTK	6	80720617	Missense_Mutation	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08	6605131	80720617	90394450	39	1892											
BCLAF1	9774	broad.mit.edu	37	chr6	136597648	136597649	+	Splice_Site	INS	-	-	TTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCA													gactcttcatctgtgaacctINSgcgaataagcaaagaagagg							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:136597648_136597649insTTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCA	ENST00000531224.1	-	5	1269		c.e5-2		BCLAF1_ENST00000353331.4_Splice_Site|BCLAF1_ENST00000527759.1_Splice_Site|BCLAF1_ENST00000392348.2_Splice_Site|BCLAF1_ENST00000527536.1_Splice_Site|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTGTGAACCTGCGAATAAGCA	0.441													False	0	False	6:136597648	0	TTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCA	136597649	-	TTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCA	136597648	8	5	23	1	0	1	1	0	0	0	1	0	1387	1594	55	0	1783	0	BCLAF1	6	136597648	Splice_Site	INS	-	TCGA-3A-A9IB-01A-21D-A397-08	55877031	136597648	34517419	40	1893											
AKAP12	9590	broad.mit.edu	37	chr6	151671524	151671524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtggaagagccaaagccGgaagaaccaaagcgcaaggt	14	9	0	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:151671524G>A	ENST00000402676.2	+	4	2238	c.1998G>A	c.(1996-1998)ccG>ccA	p.P666P	AKAP12_ENST00000253332.1_Silent_p.P666P|AKAP12_ENST00000354675.6_Silent_p.P568P|AKAP12_ENST00000359755.5_Silent_p.P561P	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	666					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGCCAAAGCCGGAAGAACCAA	0.493													False	0	False	6:151671524	0	A	151671524	G	A	151671524	2	1	23	1	0	0	0	0	0	0	0	1	448	1103	39	1		1	AKAP12	6	151671524	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	15073876	151671524	19443543	41	1894											
FNDC1	84624	broad.mit.edu	37	chr6	159646578	159646578	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttacagacagtacaccgTgcgctatcgagagaaggggg	13	9	1	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:159646578T>C	ENST00000297267.9	+	8	1096	c.896T>C	c.(895-897)gTg>gCg	p.V299A	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.V299A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	299	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAGTACACCGTGCGCTATCGA	0.463													False	0	False	6:159646578	0	C	159646578	T	C	159646578	3	2	23	1	0	0	0	0	1	0	0	0	6008	1696	59	4	926	4	FNDC1	6	159646578	Missense_Mutation	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08	7975054	159646578	11468489	42	1895											
FNDC1	84624	broad.mit.edu	37	chr6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-													agcagtcggtctcagccgagGacgacgaggaggaggacgcg							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65													False	2	False	6:159655079	0	-	159655081	GAC	-	159655079	7	5	23	1	0	1	0	1	0	0	0	0	6008	1174	41	0	3577	0	FNDC1	6	159655079	In_Frame_Del	DEL	GAC	TCGA-3A-A9IB-01A-21D-A397-08	8501	159655079	11459988	43	1896											
SP8	221833	broad.mit.edu	37	chr7	20825146	20825172	+	In_Frame_Del	DEL	GCAGCCGCGGCTGCTGCCGCGGCCGCC	GCAGCCGCGGCTGCTGCCGCGGCCGCC	-													agtcggacaccagggccgcgGcagccgcggctgctgccgcg					rs9771343		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	GCAGCCGCGGCTGCTGCCGCGGCCGCC	GCAGCCGCGGCTGCTGCCGCGGCCGCC	-	-	GCAGCCGCGGCTGCTGCCGCGGCCGCC	GCAGCCGCGGCTGCTGCCGCGGCCGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:20825146_20825172delGCAGCCGCGGCTGCTGCCGCGGCCGCC	ENST00000361443.4	-	3	447_473	c.210_236delGGCGGCCGCGGCAGCAGCCGCGGCTGC	c.(208-237)gcggcggccgcggcagcagccgcggctgcc>gcc	p.70_79AAAAAAAAAA>A	SP8_ENST00000418710.2_In_Frame_Del_p.88_97AAAAAAAAAA>A	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	70	Ala-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						CAGGgccgcggcagccgcggctgctgccgcggccgccgcagccgccg	0.744													False	1	False	7:20825146	0	-	20825172	GCAGCCGCGGCTGCTGCCGCGGCCGCC	-	20825146	7	5	23	1	0	1	0	1	0	0	0	0	15050	1203	42	0	1240	0	SP8	7	20825146	In_Frame_Del	DEL	GCAGCCGCGGCTGCTGCCGCGGCCGCC	TCGA-3A-A9IB-01A-21D-A397-08		20825146	138313517	44	1897											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	23	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-3A-A9IB-01A-21D-A397-08	23328632	44153778	114984885	45	1898											
ZNF789	285989	broad.mit.edu	37	chr7	99084376	99084376	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatgatgaggatggcaaaccCttcaatcaaagatctttgct	8	8	3	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:99084376C>G	ENST00000331410.5	+	5	813	c.543C>G	c.(541-543)ccC>ccG	p.P181P	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATGGCAAACCCTTCAATCAAA	0.428													False	0	True	7:99084376	0	G	99084376	C	G	99084376	2	3	23	1	0	0	0	0	0	0	0	1	18242	668	24	5		5	ZNF789	7	99084376	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	54930598	99084376	60054287	46	1899											
DLD	1738	broad.mit.edu	37	chr7	107546792	107546792	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatggttgttattggtgcAggagtaataggtgtagaatt	14	1	0	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:107546792A>C	ENST00000205402.5	+	8	944	c.663A>C	c.(661-663)gcA>gcC	p.A221A	DLD_ENST00000440410.1_Silent_p.A198A|DLD_ENST00000537148.1_Silent_p.A122A|DLD_ENST00000437604.2_Silent_p.A173A	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	221					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TTATTGGTGCAGGAGTAATAG	0.348													False	0	False	7:107546792	0	C	107546792	A	C	107546792	2	2	23	1	0	0	0	0	0	0	0	1	4581	175	7	4		4	DLD	7	107546792	Silent	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08	8462416	107546792	51591871	47	1900											
FOXP2	93986	broad.mit.edu	37	chr7	114303542	114303542	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatatacctaccagtttaGgctatggagcagctcttaat	7	8	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:114303542G>T	ENST00000408937.3	+	16	2256	c.1882G>T	c.(1882-1884)Ggc>Tgc	p.G628C	FOXP2_ENST00000393491.3_Missense_Mutation_p.G418C|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000403559.4_Missense_Mutation_p.G620C|FOXP2_ENST00000393489.3_Missense_Mutation_p.G511C|FOXP2_ENST00000393498.2_Missense_Mutation_p.G582C|FOXP2_ENST00000393494.2_Missense_Mutation_p.G603C|FOXP2_ENST00000350908.4_Missense_Mutation_p.G603C	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	603					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TACCAGTTTAGGCTATGGAGC	0.303													False	0	False	7:114303542	0	T	114303542	G	T	114303542	3	4	23	1	0	0	0	0	1	0	0	0	6069	1000	35	3	2028	3	FOXP2	7	114303542	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	6756750	114303542	44835121	48	1901											
TNFRSF10A	8797	broad.mit.edu	37	chr8	23054679	23054701	+	Frame_Shift_Del	DEL	CAGCCTCCTCCTCTGAGACCCTT	CAGCCTCCTCCTCTGAGACCCTT	-													gcaccatttgctggaaccagCagcctcctcctctgagaccc							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	CAGCCTCCTCCTCTGAGACCCTT	CAGCCTCCTCCTCTGAGACCCTT	-	-	CAGCCTCCTCCTCTGAGACCCTT	CAGCCTCCTCCTCTGAGACCCTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:23054679_23054701delCAGCCTCCTCCTCTGAGACCCTT	ENST00000221132.3	-	9	1095_1117	c.1031_1053delAAGGGTCTCAGAGGAGGAGGCTG	c.(1030-1053)gaagggtctcagaggaggaggctgfs	p.EGSQRRRL344fs		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	344					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CTGGAACCAGCAGCCTCCTCCTCTGAGACCCTTCAGCTTCTGC	0.556													False	1	True	8:23054679	0	-	23054701	CAGCCTCCTCCTCTGAGACCCTT	-	23054679	7	5	23	1	0	1	0	1	0	0	0	0	16362	697	25	0	361	0	TNFRSF10A	8	23054679	Frame_Shift_Del	DEL	CAGCCTCCTCCTCTGAGACCCTT	TCGA-3A-A9IB-01A-21D-A397-08		23054679	123309343	49	1902											
BHLHE22	27319	broad.mit.edu	37	chr8	65493724	65493724	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccggccggggccgccctttGcctcaagtacggcgaaagcg	15	15	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:65493724G>C	ENST00000321870.1	+	1	911	c.377G>C	c.(376-378)tGc>tCc	p.C126S	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	126	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GCCGCCCTTTGCCTCAAGTAC	0.746													False	0	True	8:65493724	0	C	65493724	G	C	65493724	3	2	23	1	0	0	0	0	1	0	0	0	1426	1319	46	5	379	5	BHLHE22	8	65493724	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	42439045	65493724	80870298	50	1903											
GRHL2	79977	broad.mit.edu	37	chr8	102585988	102585988	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcaacaaaggacagttctAtgccataacactcagcgaga	7	12	3	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:102585988A>G	ENST00000251808.3	+	6	1165	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	GRHL2_ENST00000395927.1_Missense_Mutation_p.Y260C	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	276						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGACAGTTCTATGCCATAACA	0.507													False	0	False	8:102585988	0	G	102585988	A	G	102585988	3	3	23	1	0	0	0	0	1	0	0	0	6811	449	16	4	849	4	GRHL2	8	102585988	Missense_Mutation	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08	37092264	102585988	43778034	51	1904											
DOCK8	81704	broad.mit.edu	37	chr9	376273	376273	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ataagggagtatttaatattGaagtgcaagctgtttcttct	9	4	2	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:376273G>C	ENST00000432829.2	+	19	2285	c.1969G>C	c.(1969-1971)Gaa>Caa	p.E657Q	DOCK8_ENST00000382329.1_Missense_Mutation_p.E192Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.E657Q|DOCK8_ENST00000453981.1_Missense_Mutation_p.E725Q|DOCK8_ENST00000382331.1_Missense_Mutation_p.E27Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	725					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATTTAATATTGAAGTGCAAGC	0.408													False	0	False	9:376273	0	C	376273	G	C	376273	3	2	23	1	0	0	0	0	1	0	0	0	4723	1291	45	5	2247	5	DOCK8	9	376273	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		376273	140837158	52	1905											
CDKN2A	1029	broad.mit.edu	37	chr9	21974727	21974744	+	In_Frame_Del	DEL	CCTCCAGCAGCGCCCGCA	CCTCCAGCAGCGCCCGCA	-													tgcgttgggcagcgcccccgCctccagcagcgcccgcacct							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	CCTCCAGCAGCGCCCGCA	CCTCCAGCAGCGCCCGCA	-	-	CCTCCAGCAGCGCCCGCA	CCTCCAGCAGCGCCCGCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:21974727_21974744delCCTCCAGCAGCGCCCGCA	ENST00000304494.5	-	1	353_370	c.83_100delTGCGGGCGCTGCTGGAGG	c.(82-102)gtgcgggcgctgctggaggcg>gcg	p.VRALLE28del	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.VRALLE28del|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.VRALLE28del|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.VRALLE28del|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	28					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.A30V(3)|p.E33*(2)|p.V28_E33del(2)|p.R29_A34del(2)|p.V28V(2)|p.A30A(2)|p.R29Q(1)|p.0(1)|p.V28_V51del(1)|p.L32R(1)|p.R29fs*9(1)|p.V28fs*15(1)|p.L31P(1)|p.E33fs*8(1)|p.A30P(1)|p.E33D(1)|p.R22fs*14(1)|p.V28G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGCGCCCCCGCCTCCAGCAGCGCCCGCACCTCCTCTAC	0.739		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	1	False	9:21974727	0	-	21974744	CCTCCAGCAGCGCCCGCA	-	21974727	7	5	23	1	0	1	0	1	0	0	0	0	3184	739	26	0	583	0	CDKN2A	9	21974727	In_Frame_Del	DEL	CCTCCAGCAGCGCCCGCA	TCGA-3A-A9IB-01A-21D-A397-08	21598454	21974727	119238704	53	1906											
EPC1	80314	broad.mit.edu	37	chr10	32581568	32581568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggcttcatcatttttgCgattctgcaaatgtgaagtt	9	6	3	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:32581568C>T	ENST00000319778.6	-	5	973	c.671G>A	c.(670-672)cGc>cAc	p.R224H	EPC1_ENST00000375110.2_Missense_Mutation_p.R174H|EPC1_ENST00000263062.8_Missense_Mutation_p.R224H	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	224					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATCATTTTTGCGATTCTGCAA	0.313													False	0	False	10:32581568	0	T	32581568	C	T	32581568	3	4	23	1	0	0	0	0	1	0	0	0	5192	768	27	1	1883	1	EPC1	10	32581568	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08		32581568	102953179	54	1907											
SEC31B	25956	broad.mit.edu	37	chr10	102267770	102267770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagaatgtgttgggcttgCcggttccaagacagtgcctt	13	9	0	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:102267770C>T	ENST00000370345.3	-	6	631	c.534G>A	c.(532-534)cgG>cgA	p.R178R	NDUFB8_ENST00000557395.1_3'UTR|SEC31B_ENST00000451524.1_Silent_p.R178R|NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000535773.1_Silent_p.R21R|SEC31B_ENST00000370329.5_Silent_p.R181R	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	178					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTTGGGCTTGCCGGTTCCAAG	0.517													False	0	False	10:102267770	0	T	102267770	C	T	102267770	2	4	23	1	0	0	0	0	0	0	0	1	14080	726	26	2		2	SEC31B	10	102267770	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	69686202	102267770	33266977	55	1908											
CHST15	51363	broad.mit.edu	37	chr10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcttcccctttttgaagcGcaaaaacccaccccagtttt	5	15	0	1	rs145631200		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	73					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTTGAAGCGCAAAAACCCA	0.453													False	0	False	10:125805512	0	A	125805512	G	A	125805512	3	1	23	1	0	0	0	0	1	0	0	0	3426	1087	38	1	1496	1	CHST15	10	125805512	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	23537742	125805512	9729235	56	1909											
SLC5A12	159963	broad.mit.edu	37	chr11	26743035	26743035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggaaggatgccccaaagCggtagacttcagaaggggtc	14	9	1	2	rs142065702		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:26743035C>T	ENST00000396005.3	-	1	536	c.227G>A	c.(226-228)cGc>cAc	p.R76H	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R76H	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	76					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.R76L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGCCCCAAAGCGGTAGACTTC	0.512													False	0	False	11:26743035	0	T	26743035	C	T	26743035	3	4	23	1	0	0	0	0	1	0	0	0	14744	768	27	1	1689	1	SLC5A12	11	26743035	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08		26743035	108263481	57	1910											
RTN3	10313	broad.mit.edu	37	chr11	63449189	63449189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccgtccgcgcccggcggCggcgggagcccaggagcctg	19	16	0	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:63449189C>T	ENST00000377819.5	+	1	235	c.81C>T	c.(79-81)ggC>ggT	p.G27G	RTN3_ENST00000540798.1_Silent_p.G27G|RTN3_ENST00000356000.3_Silent_p.G27G|RTN3_ENST00000339997.4_Silent_p.G27G|RTN3_ENST00000538995.1_3'UTR|RTN3_ENST00000341307.2_Silent_p.G27G|RTN3_ENST00000537981.1_Silent_p.G27G|RTN3_ENST00000354497.4_Silent_p.G27G	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	27					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CGCCCGGCGGCGGCGGGAGCC	0.746													False	0	True	11:63449189	0	T	63449189	C	T	63449189	2	4	23	1	0	0	0	0	0	0	0	1	13806	755	27	1		1	RTN3	11	63449189	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	36706154	63449189	71557327	58	1911											
MMP13	4322	broad.mit.edu	37	chr11	102822878	102822878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtggccgaactcatgcGcagcaacaagaaacaagttg	12	9	1	1	rs147544761		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:102822878G>A	ENST00000260302.3	-	5	690	c.662C>T	c.(661-663)gCg>gTg	p.A221V	MMP13_ENST00000340273.4_Missense_Mutation_p.A221V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	221					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAACTCATGCGCAGCAACAAG	0.423													False	0	False	11:102822878	0	A	102822878	G	A	102822878	3	1	23	1	0	0	0	0	1	0	0	0	9719	1087	38	1	777	1	MMP13	11	102822878	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	39373689	102822878	32183638	59	1912											
MMP13	4322	broad.mit.edu	37	chr11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgttatcgtcaagtttgCcagtcacctctaagccgaag	10	10	3	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:102826101C>T	ENST00000260302.3	-	2	270	c.242G>A	c.(241-243)gGc>gAc	p.G81D	MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	81					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTCAAGTTTGCCAGTCACCTC	0.473													False	0	False	11:102826101	0	T	102826101	C	T	102826101	3	4	23	1	0	0	0	0	1	0	0	0	9719	739	26	2	1209	2	MMP13	11	102826101	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	3223	102826101	32180415	60	1913											
B4GALNT3	283358	broad.mit.edu	37	chr12	662878	662878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaagtggtggcggccGcaggccaggaaggacaagtg	20	7	0	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:662878G>A	ENST00000266383.5	+	14	1802	c.1789G>A	c.(1789-1791)Gca>Aca	p.A597T		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	597						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGTGGCGGCCGCAGGCCAGGA	0.617													False	0	False	12:662878	0	A	662878	G	A	662878	3	1	23	1	0	0	0	0	1	0	0	0	1272	1087	38	1	1843	1	B4GALNT3	12	662878	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		662878	133189017	61	1914											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	23	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	24735406	25398284	108453611	62	1915											
KRT85	3891	broad.mit.edu	37	chr12	52760836	52760836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttctcctcctgcttcacGcactgtgcgttggggtcgat	10	14	2	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:52760836G>A	ENST00000257901.3	-	1	429	c.354C>T	c.(352-354)tgC>tgT	p.C118C		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	118	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTTCACGCACTGTGCGT	0.632													False	0	False	12:52760836	0	A	52760836	G	A	52760836	2	1	23	1	0	0	0	0	0	0	0	1	8549	1079	38	1		1	KRT85	12	52760836	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	27362552	52760836	81091059	63	1916											
ERBB3	2065	broad.mit.edu	37	chr12	56495712	56495712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaggggcctggacatcAggccccccatgtccattatg	10	13	2	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:56495712A>G	ENST00000267101.3	+	28	4342	c.3902A>G	c.(3901-3903)cAg>cGg	p.Q1301R	RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000553131.1_Missense_Mutation_p.Q542R|ERBB3_ENST00000549832.1_Missense_Mutation_p.Q421R|ERBB3_ENST00000450146.2_Missense_Mutation_p.Q658R|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q1242R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1301					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTGGACATCAGGCCCCCCAT	0.537													False	0	False	12:56495712	0	G	56495712	A	G	56495712	3	3	23	1	0	0	0	0	1	0	0	0	5240	188	7	4	4143	4	ERBB3	12	56495712	Missense_Mutation	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08	3734876	56495712	77356183	64	1917											
LRP1	4035	broad.mit.edu	37	chr12	57594247	57594247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgcaagaacgacaagtGcatccccttctggtggaagt	11	9	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:57594247G>A	ENST00000243077.3	+	63	10503	c.10037G>A	c.(10036-10038)tGc>tAc	p.C3346Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3346	LDL-receptor class A 21.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AACGACAAGTGCATCCCCTTC	0.617													False	0	False	12:57594247	0	A	57594247	G	A	57594247	3	1	23	1	0	0	0	0	1	0	0	0	9013	1319	46	2	10287	2	LRP1	12	57594247	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	1098535	57594247	76257648	65	1918											
DNAH10	196385	broad.mit.edu	37	chr12	124325980	124325980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtttcggaagatcttgCgggctgaagggcgcgtggag	19	6	1	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:124325980C>T	ENST00000409039.3	+	29	4919	c.4894C>T	c.(4894-4896)Cgg>Tgg	p.R1632W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1632	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R224W(1)|p.R1632W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGATCTTGCGGGCTGAAGG	0.453													False	0	True	12:124325980	0	T	124325980	C	T	124325980	3	4	23	1	0	0	0	0	1	0	0	0	4628	759	27	1	5008	1	DNAH10	12	124325980	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	66731733	124325980	9525915	66	1919											
MYO16	23026	broad.mit.edu	37	chr13	109779895	109779895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggccagggaagcggccaacGaaggtcagccctggggaggg	19	11	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:109779895G>A	ENST00000356711.2	+	31	4108	c.3982G>A	c.(3982-3984)Gaa>Aaa	p.E1328K	MYO16_ENST00000457511.2_Missense_Mutation_p.E840K|MYO16_ENST00000357550.2_Missense_Mutation_p.E1328K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1328					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGCGGCCAACGAAGGTCAGCC	0.662													False	0	False	13:109779895	0	A	109779895	G	A	109779895	3	1	23	1	0	0	0	0	1	0	0	0	10131	1059	37	1	4100	1	MYO16	13	109779895	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		109779895	5389983	67	1920											
FBN1	2200	broad.mit.edu	37	chr15	48707785	48707785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccacacaggtaaccgccctCggtattggaacagccatagc	10	14	0	0	rs149062442		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr15:48707785C>T	ENST00000316623.5	-	64	8454	c.7999G>A	c.(7999-8001)Gag>Aag	p.E2667K	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2667	EGF-like 47; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAACCGCCCTCGGTATTGGAA	0.542													False	0	False	15:48707785	0	T	48707785	C	T	48707785	3	4	23	1	0	0	0	0	1	0	0	0	5742	893	31	1	628	1	FBN1	15	48707785	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08		48707785	53823607	68	1921											
RHOT2	89941	broad.mit.edu	37	chr16	721954	721954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagctcccacgcacagtccGcacagaggccggccggttgc	13	17	0	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:721954G>A	ENST00000315082.4	+	13	1163	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	350					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CGCACAGTCCGCACAGAGGCC	0.692													False	0	False	16:721954	0	A	721954	G	A	721954	3	1	23	1	0	0	0	0	1	0	0	0	13423	1087	38	1	1099	1	RHOT2	16	721954	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		721954	89632799	69	1922											
FAM86A	196483	broad.mit.edu	37	chr16	5135725	5135725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacttcccatctgatccCggcccggcctggaaacagag	9	16	1	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:5135725C>T	ENST00000427587.4	-	8	969	c.901G>A	c.(901-903)Ggg>Agg	p.G301R	FAM86A_ENST00000458008.4_Missense_Mutation_p.G267R|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000587133.1_Missense_Mutation_p.G240R	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	301										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CATCTGATCCCGGCCCGGCCT	0.562													False	0	True	16:5135725	0	T	5135725	C	T	5135725	3	4	23	1	0	0	0	0	1	0	0	0	5683	652	23	1	95	1	FAM86A	16	5135725	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	4413771	5135725	85219028	70	1923											
NKD1	85407	broad.mit.edu	37	chr16	50664178	50664178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacatccagcaagatgctgCgggtaaagctcaccgtggcc	11	13	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:50664178C>T	ENST00000268459.3	+	7	768	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	182	Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAAGATGCTGCGGGTAAAGCT	0.592													False	0	True	16:50664178	0	T	50664178	C	T	50664178	3	4	23	1	0	0	0	0	1	0	0	0	10509	759	27	1	570	1	NKD1	16	50664178	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	45528453	50664178	39690575	71	1924											
PMFBP1	83449	broad.mit.edu	37	chr16	72163043	72163043	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttctcatgctctttgctcttCttcaactgctcccgtttgtc	5	14	5	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:72163043C>G	ENST00000537465.1	-	13	2045	c.1887G>C	c.(1885-1887)aaG>aaC	p.K629N	PMFBP1_ENST00000355636.6_Missense_Mutation_p.K479N|PMFBP1_ENST00000237353.10_Missense_Mutation_p.K624N			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	629										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTTTGCTCTTCTTCAACTGCT	0.468													False	0	False	16:72163043	0	G	72163043	C	G	72163043	3	3	23	1	0	0	0	0	1	0	0	0	12203	912	32	5	1247	5	PMFBP1	16	72163043	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	21498865	72163043	18191710	72	1925											
FANCA	2175	broad.mit.edu	37	chr16	89842201	89842201	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctggcagtaggtggagtacaGagatggggggattttatctg	17	4	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:89842201G>C	ENST00000389301.3	-	21	1879	c.1849C>G	c.(1849-1851)Ctg>Gtg	p.L617V	FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.L617V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	617					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTGGAGTACAGAGATGGGGGG	0.443			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	16:89842201	0	C	89842201	G	C	89842201	3	2	23	1	0	0	0	0	1	0	0	0	5702	933	33	5	2610	5	FANCA	16	89842201	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	17679158	89842201	512552	73	1926											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	9	15	2	1	rs121912666		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557		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)			False	0	False	17:7578190	0	C	7578190	T	C	7578190	3	2	23	1	0	0	0	0	1	0	0	0	16464	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08		7578190	73617020	74	1927											
TAOK1	57551	broad.mit.edu	37	chr17	27869675	27869675	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agattgaagcttttgactctGaaagcatgagactaggtttt	10	5	1	5			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:27869675G>C	ENST00000261716.3	+	20	3160	c.2641G>C	c.(2641-2643)Gaa>Caa	p.E881Q	TAOK1_ENST00000536202.1_Missense_Mutation_p.E733Q	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	881					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTTTGACTCTGAAAGCATGAG	0.473													False	0	True	17:27869675	0	C	27869675	G	C	27869675	3	2	23	1	0	0	0	0	1	0	0	0	15629	1291	45	5	2715	5	TAOK1	17	27869675	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	20291485	27869675	53325535	75	1928											
TMEM132E	124842	broad.mit.edu	37	chr17	32953589	32953589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccgcctgcatgccttcCgggatgcccgggaagtcaag	14	13	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:32953589C>T	ENST00000321639.5	+	2	839	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	171						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCATGCCTTCCGGGATGCCCG	0.711													False	0	True	17:32953589	0	T	32953589	C	T	32953589	3	4	23	1	0	0	0	0	1	0	0	0	16130	643	23	1	517	1	TMEM132E	17	32953589	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	5083914	32953589	48241621	76	1929											
CRHR1	1394	broad.mit.edu	37	chr17	43907805	43907805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgcaggttggtgacagCcgcctacaactacttccatg	11	12	0	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:43907805C>T	ENST00000314537.5	+	7	803	c.578C>T	c.(577-579)gCc>gTc	p.A193V	CRHR1_ENST00000339069.5_Missense_Mutation_p.A92V|CRHR1_ENST00000577353.1_Missense_Mutation_p.A193V|CRHR1_ENST00000398285.3_Missense_Mutation_p.A222V|CRHR1_ENST00000293493.7_Missense_Mutation_p.A18V|CRHR1_ENST00000352855.5_Missense_Mutation_p.A153V	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	222					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TTGGTGACAGCCGCCTACAAC	0.632													False	0	False	17:43907805	0	T	43907805	C	T	43907805	3	4	23	1	0	0	0	0	1	0	0	0	3894	739	26	2	695	2	CRHR1	17	43907805	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	10954216	43907805	37287405	77	1930											
COIL	8161	broad.mit.edu	37	chr17	55019406	55019406	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcacacctaccttgctctccTgtgtcacagcgtactccact	6	17	2	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:55019406T>A	ENST00000240316.4	-	6	1671	c.1637A>T	c.(1636-1638)cAg>cTg	p.Q546L		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	546						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CTTGCTCTCCTGTGTCACAGC	0.468													False	0	False	17:55019406	0	A	55019406	T	A	55019406	3	1	23	1	0	0	0	0	1	0	0	0	3688	1580	55	5	101	5	COIL	17	55019406	Missense_Mutation	SNP	T	TCGA-3A-A9IB-01A-21D-A397-08	11111601	55019406	26175804	78	1931											
CASKIN2	57513	broad.mit.edu	37	chr17	73498943	73498943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacaaagcttagggggccGctctgtgccctctgggaggt	15	10	2	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:73498943G>A	ENST00000321617.3	-	18	2798	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R656W	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	738	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTAGGGGGCCGCTCTGTGCCC	0.657													False	0	False	17:73498943	0	A	73498943	G	A	73498943	3	1	23	1	0	0	0	0	1	0	0	0	2687	1086	38	1	1408	1	CASKIN2	17	73498943	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	18479537	73498943	7696267	79	1932											
C18orf8	29919	broad.mit.edu	37	chr18	21098885	21098887	+	In_Frame_Del	DEL	CAT	CAT	-													tgtatgttctcttcttgaggCatcattctcggacctccaac							TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	CAT	CAT	-	-	CAT	CAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr18:21098885_21098887delCAT	ENST00000590868.1	+	6	641_643	c.541_543delCAT	c.(541-543)catdel	p.H182del	C18orf8_ENST00000269221.3_In_Frame_Del_p.H230del			Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	230										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTTCTTGAGGCATCATTCTCGGA	0.424													False	2	False	18:21098885	0	-	21098887	CAT	-	21098885	7	5	23	1	0	1	0	1	0	0	0	0	1922	710	25	0	715	0	C18orf8	18	21098885	In_Frame_Del	DEL	CAT	TCGA-3A-A9IB-01A-21D-A397-08		21098885	56978363	80	1933											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													False	0	True	19:9090831	0	G	9090831	A	G	9090831	2	3	23	1	0	0	0	0	0	0	0	1	10040	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08		9090831	50038152	81	1934											
TMEM145	284339	broad.mit.edu	37	chr19	42819577	42819577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttataaaatgttcatggccGcagcaggagtagagggtgag	14	6	1	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:42819577G>A	ENST00000598766.1	+	8	703	c.703G>A	c.(703-705)Gca>Aca	p.A235T	TMEM145_ENST00000301204.3_Missense_Mutation_p.A211T			Q8NBT3	TM145_HUMAN	transmembrane protein 145	211						integral to membrane		p.A211T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GTTCATGGCCGCAGCAggagt	0.532													False	0	False	19:42819577	0	A	42819577	G	A	42819577	3	1	23	1	0	0	0	0	1	0	0	0	16141	1087	38	1	661	1	TMEM145	19	42819577	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	33728746	42819577	16309406	82	1935											
ZNF175	7728	broad.mit.edu	37	chr19	52090881	52090881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcctttacccagaagtcaAcactcagcttgcaccagaga	7	13	2	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:52090881A>G	ENST00000262259.2	+	5	1655	c.1297A>G	c.(1297-1299)Aca>Gca	p.T433A	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	433					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCAGAAGTCAACACTCAGCTT	0.473													False	0	False	19:52090881	0	G	52090881	A	G	52090881	3	3	23	1	0	0	0	0	1	0	0	0	17828	43	2	4	1311	4	ZNF175	19	52090881	Missense_Mutation	SNP	A	TCGA-3A-A9IB-01A-21D-A397-08	9271304	52090881	7038102	83	1936											
ZNF528	84436	broad.mit.edu	37	chr19	52919334	52919334	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tactagagagagaccttatgGatgcagtcagtgtggcaaga	13	6	1	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:52919334G>C	ENST00000360465.3	+	7	1655	c.1229G>C	c.(1228-1230)gGa>gCa	p.G410A	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGACCTTATGGATGCAGTCAG	0.403													False	0	False	19:52919334	0	C	52919334	G	C	52919334	3	2	23	1	0	0	0	0	1	0	0	0	18052	1174	41	5	1243	5	ZNF528	19	52919334	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	828453	52919334	6209649	84	1937											
SLC32A1	140679	broad.mit.edu	37	chr20	37356232	37356232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacgaggagaatgaagaCggcgaggtggtgcgcgtgcg	19	7	0	3			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:37356232C>T	ENST00000217420.1	+	2	791	c.528C>T	c.(526-528)gaC>gaT	p.D176D		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	176					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGAATGAAGACGGCGAGGTGG	0.647													False	0	False	20:37356232	0	T	37356232	C	T	37356232	2	4	23	1	0	0	0	0	0	0	0	1	14645	535	19	1		1	SLC32A1	20	37356232	Silent	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08		37356232	25669288	85	1938											
RBM38	55544	broad.mit.edu	37	chr20	55966783	55966783	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtaccacactaccgacgcctCgctcaggaagtacttcgagg	10	14	1	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:55966783C>A	ENST00000356208.5	+	1	321	c.146C>A	c.(145-147)tCg>tAg	p.S49*	RP4-800J21.3_ENST00000417346.1_RNA|RBM38_ENST00000440234.2_Nonsense_Mutation_p.S49*	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	49	RRM.				3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			ACCGACGCCTCGCTCAGGAAG	0.677													False	0	False	20:55966783	0	A	55966783	C	A	55966783	4	1	23	1	0	0	0	0	0	1	0	0	13211	893	31	3		3	RBM38	20	55966783	Nonsense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	18610551	55966783	7058737	86	1939											
ISX	91464	broad.mit.edu	37	chr22	35463185	35463185	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtccttctccattgaggcGatcctaaagaggcctgccag	10	13	1	2			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:35463185G>A	ENST00000308700.6	+	1	1057	c.105G>A	c.(103-105)gcG>gcA	p.A35A	RP1-272J12.1_ENST00000448318.4_RNA|ISX_ENST00000404699.2_Silent_p.A35A	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	35						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CCATTGAGGCGATCCTAAAGA	0.602													False	0	False	22:35463185	0	A	35463185	G	A	35463185	2	1	23	1	0	0	0	0	0	0	0	1	7915	1045	37	1		1	ISX	22	35463185	Silent	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		35463185	15841381	87	1940											
AP1S2	8905	broad.mit.edu	37	chrX	15870623	15870623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtcgaagctttccctgacGactaaaaagcaacataaact	6	11	0	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:15870623G>A	ENST00000380291.1	-	2	141	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	AP1S2_ENST00000329235.2_Missense_Mutation_p.R9C|AP1S2_ENST00000545766.1_Missense_Mutation_p.R51C|AP1S2_ENST00000421527.2_Missense_Mutation_p.R51C			P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	9					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					tttccctgacgactaaaAAGC	0.338													False	0	False	X:15870623	0	A	15870623	G	A	15870623	3	1	23	1	0	0	0	0	1	0	0	0	739	1058	37	1	464	1	AP1S2	23	15870623	Missense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08		15870623	139399937	88	1941											
BEND2	139105	broad.mit.edu	37	chrX	18195833	18195833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtttggccatattttgtaCggccagcaaatggattttaa	10	6	0	0			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:18195833C>T	ENST00000380033.4	-	10	1618	c.1486G>A	c.(1486-1488)Gta>Ata	p.V496I	BEND2_ENST00000380030.3_Missense_Mutation_p.V405I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	496	BEN 1.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATATTTTGTACGGCCAGCAAA	0.383													False	0	False	X:18195833	0	T	18195833	C	T	18195833	3	4	23	1	0	0	0	0	1	0	0	0	1402	536	19	1	959	1	BEND2	23	18195833	Missense_Mutation	SNP	C	TCGA-3A-A9IB-01A-21D-A397-08	2325210	18195833	137074727	89	1942											
RPS6KA6	27330	broad.mit.edu	37	chrX	83319323	83319323	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctttttcatgctccgtcGctgggctaagcttgaagcag	11	11	1	1			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:83319323G>A	ENST00000262752.2	-	22	2207	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R734*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	734					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATGCTCCGTCGCTGGGCTAAG	0.458													False	0	False	X:83319323	0	A	83319323	G	A	83319323	4	1	23	1	0	0	0	0	0	1	0	0	13734	1095	38	1	41	1	RPS6KA6	23	83319323	Nonsense_Mutation	SNP	G	TCGA-3A-A9IB-01A-21D-A397-08	65123490	83319323	71951237	90	1943											
ESPN	83715	broad.mit.edu	37	chr1	6505817	6505879	+	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-													gggcacgattgggaagcccaCacccccaccacccccaccca					rs139266211	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	-	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENST00000377828.1	+	7	1454_1516	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca	p.PPPPPPSFPPPPPPPGTQLPP430del	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	430	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGGAAGcccacacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgcccccacccccacc	0.65													False	1	True	1:6505817	0	-	6505879	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	6505817	7	5	24	1	0	1	0	1	0	0	0	0	5286	478	17	0	1312	0	ESPN	1	6505817	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	TCGA-3A-A9IC-01A-11D-A38G-08		6505817	242744804	1	1944											
PLEKHM2	23207	broad.mit.edu	37	chr1	16056392	16056392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggagaagctggcactgGccaaatttgtggcccaagaa	12	10	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:16056392G>A	ENST00000375799.3	+	14	2403	c.2176G>A	c.(2176-2178)Gcc>Acc	p.A726T	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A706T|PLEKHM2_ENST00000477849.1_3'UTR	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	726					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GCTGGCACTGGCCAAATTTGT	0.557													False	0	False	1:16056392	0	A	16056392	G	A	16056392	3	1	24	1	0	0	0	0	1	0	0	0	12150	1203	42	2	2230	2	PLEKHM2	1	16056392	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	9550575	16056392	233194229	2	1945											
AKR7L	246181	broad.mit.edu	37	chr1	19595852	19595852	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcatacttgtacttgccGgtcagcaggccccctgcggg	11	15	2	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:19595852G>A	ENST00000420396.2	-	0	507				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TGTACTTGCCGGTCAGCAGGC	0.627													False	0	False	1:19595852	0	A	19595852	G	A	19595852	1	1	24	0	1	0	0	0	0	0	0	0	477	1103	39	1		1	AKR7L	1	19595852	RNA	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	3539460	19595852	229654769	3	1946											
CYP2J2	1573	broad.mit.edu	37	chr1	60359407	60359407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggctcagcttctcattGtttgggggcctgaaggtaaa	12	8	3	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:60359407G>T	ENST00000371204.3	-	9	1468	c.1425C>A	c.(1423-1425)aaC>aaA	p.N475K	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	475					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					GCTTCTCATTGTTTGGGGGCC	0.463													False	0	True	1:60359407	0	T	60359407	G	T	60359407	3	4	24	1	0	0	0	0	1	0	0	0	4197	1368	48	3	87	3	CYP2J2	1	60359407	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	40763555	60359407	188891214	4	1947											
IFI44L	10964	broad.mit.edu	37	chr1	79093845	79093845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctacagagccaaatgattCcctatggttttcacttcaaa	5	10	3	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:79093845C>T	ENST00000370751.4	+	2	424	c.245C>T	c.(244-246)tCc>tTc	p.S82F	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	82						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CCAAATGATTCCCTATGGTTT	0.313													False	0	True	1:79093845	0	T	79093845	C	T	79093845	3	4	24	1	0	0	0	0	1	0	0	0	7568	855	30	2	247	2	IFI44L	1	79093845	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	18734438	79093845	170156776	5	1948											
CDC14A	8556	broad.mit.edu	37	chr1	100964516	100964516	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actcccggctagccagttctCtagggaacttgaatgctgca	10	12	1	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:100964516C>T	ENST00000336454.3	+	15	1808	c.1453C>T	c.(1453-1455)Cta>Tta	p.L485L	CDC14A_ENST00000542213.1_Silent_p.L427L|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Silent_p.L485L|CDC14A_ENST00000544534.1_Silent_p.L485L	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	485					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGCCAGTTCTCTAGGGAACTT	0.458													False	0	False	1:100964516	0	T	100964516	C	T	100964516	2	4	24	1	0	0	0	0	0	0	0	1	3079	912	32	2		2	CDC14A	1	100964516	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	21870671	100964516	148286105	6	1949											
VAV3	10451	broad.mit.edu	37	chr1	108322082	108322082	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggccaatgctataggTgttcgagaaagtcgtgataa	12	7	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:108322082T>A	ENST00000370056.4	-	3	628	c.354A>T	c.(352-354)acA>acT	p.T118T	VAV3_ENST00000371846.4_Silent_p.T53T|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.T118T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	118	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATGCTATAGGTGTTCGAGAAA	0.318													False	0	False	1:108322082	0	A	108322082	T	A	108322082	2	1	24	1	0	0	0	0	0	0	0	1	17217	1683	59	5		5	VAV3	1	108322082	Silent	SNP	T	TCGA-3A-A9IC-01A-11D-A38G-08	7357566	108322082	140928539	7	1950											
VTCN1	79679	broad.mit.edu	37	chr1	117699284	117699284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatctgtgagttgcacGtttttcagccgcaaagaggc	11	11	2	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:117699284G>A	ENST00000369458.3	-	3	435	c.357C>T	c.(355-357)aaC>aaT	p.N119N	VTCN1_ENST00000359008.4_Silent_p.N122N|VTCN1_ENST00000539893.1_Silent_p.N24N|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	119	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGAGTTGCACGTTTTTCAGCC	0.453													False	0	True	1:117699284	0	A	117699284	G	A	117699284	2	1	24	1	0	0	0	0	0	0	0	1	17318	1136	40	1		1	VTCN1	1	117699284	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	9377202	117699284	131551337	8	1951											
BLZF1	8548	broad.mit.edu	37	chr1	169349763	169349763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagagcagctttacagcGtcaaaaccgtgatgcacacg	9	12	2	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:169349763G>A	ENST00000367808.3	+	5	1136	c.713G>A	c.(712-714)cGt>cAt	p.R238H	BLZF1_ENST00000329281.2_Missense_Mutation_p.R238H			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	238					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GCTTTACAGCGTCAAAACCGT	0.383													False	0	False	1:169349763	0	A	169349763	G	A	169349763	3	1	24	1	0	0	0	0	1	0	0	0	1458	1145	40	1	727	1	BLZF1	1	169349763	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	51650479	169349763	79900858	9	1952											
ASPM	259266	broad.mit.edu	37	chr1	197070385	197070385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatacaaataactgcttgggTacgcactgcagttagttttc	8	8	0	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:197070385T>C	ENST00000367409.4	-	18	8252	c.7996A>G	c.(7996-7998)Acc>Gcc	p.T2666A	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2666	IQ 29.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTGCTTGGGTACGCACTGCA	0.368													False	0	True	1:197070385	0	C	197070385	T	C	197070385	3	2	24	1	0	0	0	0	1	0	0	0	1060	1638	57	4	2481	4	ASPM	1	197070385	Missense_Mutation	SNP	T	TCGA-3A-A9IC-01A-11D-A38G-08	27720622	197070385	52180236	10	1953											
TRAF5	7188	broad.mit.edu	37	chr1	211534067	211534067	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgaggaaaacttgtgtccTgaatacccagtattttgtcc	8	9	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr1:211534067T>C	ENST00000261464.5	+	6	621	c.567T>C	c.(565-567)ccT>ccC	p.P189P	TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000336184.2_Silent_p.P189P|TRAF5_ENST00000367004.3_Silent_p.P189P	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	189					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ACTTGTGTCCTGAATACCCAG	0.373													False	0	False	1:211534067	0	C	211534067	T	C	211534067	2	2	24	1	0	0	0	0	0	0	0	1	16527	1567	55	4		4	TRAF5	1	211534067	Silent	SNP	T	TCGA-3A-A9IC-01A-11D-A38G-08	14463682	211534067	37716554	11	1954											
SNTG2	54221	broad.mit.edu	37	chr2	1204809	1204809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccatcgtcaccttcctcGcccatagctaaggacccgag	8	18	1	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:1204809G>A	ENST00000308624.5	+	9	741	c.612G>A	c.(610-612)tcG>tcA	p.S204S	SNTG2_ENST00000407292.1_Silent_p.S77S|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	204					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.S204S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CACCTTCCTCGCCCATAGCTA	0.582													False	0	True	2:1204809	0	A	1204809	G	A	1204809	2	1	24	1	0	0	0	0	0	0	0	1	14955	1074	38	1		1	SNTG2	2	1204809	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		1204809	241994564	12	1955											
LRP1B	53353	broad.mit.edu	37	chr2	141773437	141773437	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggccttctcaatccttcccAcgctgtcatctatttcatct	4	15	5	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:141773437A>T	ENST00000389484.3	-	13	2989	c.2018T>A	c.(2017-2019)gTg>gAg	p.V673E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	673					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCCTTCCCACGCTGTCATC	0.418										TSP Lung(27;0.18)			False	0	True	2:141773437	0	T	141773437	A	T	141773437	3	4	24	1	0	0	0	0	1	0	0	0	9017	159	6	5	12097	5	LRP1B	2	141773437	Missense_Mutation	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08	140568628	141773437	101425936	13	1956											
ANKAR	150709	broad.mit.edu	37	chr2	190603299	190603299	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttttcagattgttgtActggctaaagtcattagaga	9	5	3	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:190603299A>G	ENST00000520309.1	+	19	3679	c.3591A>G	c.(3589-3591)gtA>gtG	p.V1197V	ANKAR_ENST00000313581.4_Silent_p.V1197V|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1126V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1197						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGATTGTTGTACTGGCTAAAG	0.313													False	0	False	2:190603299	0	G	190603299	A	G	190603299	2	3	24	1	0	0	0	0	0	0	0	1	623	378	14	4		4	ANKAR	2	190603299	Silent	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08	48829862	190603299	52596074	14	1957											
PMS1	0	broad.mit.edu	37	chr2	190718684	190718684	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaatccgacatcattacaAtctgaaatgcctaaaggaat	6	8	2	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:190718684A>G	ENST00000441310.2	+	8	1075	c.842A>G	c.(841-843)aAt>aGt	p.N281S	PMS1_ENST00000418224.3_Missense_Mutation_p.N105S|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.N105S|PMS1_ENST00000409823.3_Missense_Mutation_p.N242S|PMS1_ENST00000447232.2_Missense_Mutation_p.N281S	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	281					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CATCATTACAATCTGAAATGC	0.284			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					False	0	False	2:190718684	0	G	190718684	A	G	190718684	3	3	24	1	0	0	0	0	1	0	0	0	12211	101	4	4	868	4	PMS1	2	190718684	Missense_Mutation	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08	115385	190718684	52480689	15	1958											
CCDC150	284992	broad.mit.edu	37	chr2	197521440	197521440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaatgaagcaatttgtgCaggaaaaacagatattttat	7	5	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:197521440C>T	ENST00000389175.4	+	3	395	c.260C>T	c.(259-261)gCa>gTa	p.A87V	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	87										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAATTTGTGCAGGAAAAACA	0.418													False	0	False	2:197521440	0	T	197521440	C	T	197521440	3	4	24	1	0	0	0	0	1	0	0	0	2805	710	25	2	270	2	CCDC150	2	197521440	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	6802756	197521440	45677933	16	1959											
HSPE1	3336	broad.mit.edu	37	chr2	198367975	198367975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacattcttggaaagtacGtagactgaaataagtcacta	9	6	2	3			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr2:198367975G>A	ENST00000233893.5	+	4	744	c.301G>A	c.(301-303)Gta>Ata	p.V101I	HSPE1_ENST00000465573.1_3'UTR|MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I	NM_002157.2	NP_002148.1			heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			TGGAAAGTACGTAGACTGAAA	0.328													False	0	False	2:198367975	0	A	198367975	G	A	198367975	3	1	24	1	0	0	0	0	1	0	0	0	7479	1145	40	1	315	1	HSPE1	2	198367975	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	846535	198367975	44831398	17	1960											
ANKRD28	23243	broad.mit.edu	37	chr3	15752737	15752737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccagctgcagctgcatGtagacaagtcctgccaaaat	8	14	0	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:15752737G>A	ENST00000399451.2	-	12	1595	c.1228C>T	c.(1228-1230)Cat>Tat	p.H410Y	ANKRD28_ENST00000383777.1_Missense_Mutation_p.H443Y|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	410						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCAGCTGCATGTAGACAAGTC	0.313													False	0	False	3:15752737	0	A	15752737	G	A	15752737	3	1	24	1	0	0	0	0	1	0	0	0	656	1377	48	2	2001	2	ANKRD28	3	15752737	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		15752737	182269693	18	1961											
TGFBR2	7048	broad.mit.edu	37	chr3	30732964	30732964	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgggaccacgacccagAggcccgtctcacagcccagt	12	16	1	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:30732964A>T	ENST00000295754.5	+	7	1959	c.1577A>T	c.(1576-1578)gAg>gTg	p.E526V	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	526	Protein kinase.		E -> Q (in esophageal cancer).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CACGACCCAGAGGCCCGTCTC	0.597													False	0	False	3:30732964	0	T	30732964	A	T	30732964	3	4	24	1	0	0	0	0	1	0	0	0	15904	304	11	5	1682	5	TGFBR2	3	30732964	Missense_Mutation	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08	14980227	30732964	167289466	19	1962											
HHATL	57467	broad.mit.edu	37	chr3	42739123	42739123	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttaggcctgcctgggctcGgatgtgccacagctcaccct	12	15	1	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:42739123G>A	ENST00000441594.1	-	7	1003	c.742C>T	c.(742-744)Cga>Tga	p.R248*	HHATL_ENST00000310417.5_Nonsense_Mutation_p.R248*	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	248					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCCTGGGCTCGGATGTGCCAC	0.617													False	0	False	3:42739123	0	A	42739123	G	A	42739123	4	1	24	1	0	0	0	0	0	1	0	0	7137	1124	39	1	796	1	HHATL	3	42739123	Nonsense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	12006159	42739123	155283307	20	1963											
MITF	4286	broad.mit.edu	37	chr3	69985877	69985877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctaaaacattgttatgCtggaaatgctagaatataat	6	7	0	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:69985877C>T	ENST00000394351.3	+	1	124	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	MITF_ENST00000352241.4_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000448226.2_Intron|MITF_ENST00000394355.2_Intron|MITF_ENST00000314557.6_Silent_p.L2L|MITF_ENST00000314589.5_Intron|MITF_ENST00000531774.1_Silent_p.L2L|MITF_ENST00000472437.1_Intron|MITF_ENST00000328528.6_Intron	NM_000248.3	NP_000239.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	0					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CATTGTTATGCTGGAAATGCT	0.348			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						False	0	False	3:69985877	0	T	69985877	C	T	69985877	2	4	24	1	0	0	0	0	0	0	0	1	9663	796	28	2		2	MITF	3	69985877	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	27246754	69985877	128036553	21	1964											
BOC	91653	broad.mit.edu	37	chr3	113005548	113005548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctgcttgggccttgtgCcagttgaagaggtggacagt	15	8	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:113005548C>T	ENST00000495514.1	+	20	3888	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	BOC_ENST00000355385.3_Missense_Mutation_p.P1062S|BOC_ENST00000273395.4_Missense_Mutation_p.P1063S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1062					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGCCTTGTGCCAGTTGAAGA	0.577													False	0	False	3:113005548	0	T	113005548	C	T	113005548	3	4	24	1	0	0	0	0	1	0	0	0	1486	739	26	2	3254	2	BOC	3	113005548	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	43019671	113005548	85016882	22	1965											
CD86	942	broad.mit.edu	37	chr3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattccaagtatatgggccGcacaagttttgattcggaca	9	9	1	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TATATGGGCCGCACAAGTTTT	0.423													False	0	False	3:121822548	0	A	121822548	G	A	121822548	3	1	24	1	0	0	0	0	1	0	0	0	3066	1087	38	1	264	1	CD86	3	121822548	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	8817000	121822548	76199882	23	1966											
SKIL	6498	broad.mit.edu	37	chr3	170078560	170078561	+	Frame_Shift_Del	DEL	TG	TG	-													tccacagaactcactcagacTgtgttggaaggggaatctat							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr3:170078560_170078561delTG	ENST00000426052.2	+	3	613_614	c.381_382delTG	c.(379-384)actgtgfs	p.V128fs	SKIL_ENST00000458537.3_Frame_Shift_Del_p.V148fs|SKIL_ENST00000413427.2_Frame_Shift_Del_p.V148fs|SKIL_ENST00000259119.4_Frame_Shift_Del_p.V148fs	NM_001145098.2	NP_001138570.1	P12757	SKIL_HUMAN	SKI-like oncogene	148					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCACTCAGACTGTGTTGGAAGG	0.45													False	2	False	3:170078560	0	-	170078561	TG	-	170078560	7	5	24	1	0	1	0	1	0	0	0	0	14439	1567	55	0	443	0	SKIL	3	170078560	Frame_Shift_Del	DEL	TG	TCGA-3A-A9IC-01A-11D-A38G-08	48256012	170078560	27943870	24	1967											
LDB2	9079	broad.mit.edu	37	chr4	16504390	16504390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcctcctcgtcgtccatgCcgttggccgcatcatattgc	9	15	1	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:16504390C>T	ENST00000304523.5	-	8	1321	c.998G>A	c.(997-999)gGc>gAc	p.G333D	RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.G331D|LDB2_ENST00000441778.2_3'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	333	LIM-binding domain (LID) (By similarity).						LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GTCGTCCATGCCGTTGGCCGC	0.522													False	0	False	4:16504390	0	T	16504390	C	T	16504390	3	4	24	1	0	0	0	0	1	0	0	0	8747	739	26	2	127	2	LDB2	4	16504390	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		16504390	174649886	25	1968											
UGT2A2	0	broad.mit.edu	37	chr4	70505048	70505048	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaggagttggtctatggtcaAtccacagcattatcatatgc	10	8	3	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:70505048A>T	ENST00000457664.2	-	1	310	c.311T>A	c.(310-312)aTt>aAt	p.I104N	UGT2A1_ENST00000514019.1_Missense_Mutation_p.I305N|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron	NM_001105677.2	NP_001099147.2																					TCTATGGTCAATCCACAGCAT	0.368													False	0	False	4:70505048	0	T	70505048	A	T	70505048	3	4	24	1	0	0	0	0	1	0	0	0	17038	101	4	5	1323	5	UGT2A2	4	70505048	Missense_Mutation	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08	54000658	70505048	120649228	26	1969											
ENAM	10117	broad.mit.edu	37	chr4	71508016	71508016	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaaatgggattggcccActccctgcagtcaacgcttc	9	14	2	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr4:71508016A>T	ENST00000396073.3	+	9	1154	c.873A>T	c.(871-873)ccA>ccT	p.P291P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	291					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGATTGGCCCACTCCCTGCAG	0.512													False	0	True	4:71508016	0	T	71508016	A	T	71508016	2	4	24	1	0	0	0	0	0	0	0	1	5144	146	6	5		5	ENAM	4	71508016	Silent	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08	1002968	71508016	119646260	27	1970											
HMGCR	3156	broad.mit.edu	37	chr5	74646647	74646647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcttgttcatgctcacagtCgctggatagctgatccttct	8	11	4	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:74646647C>T	ENST00000287936.4	+	9	970	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	HMGCR_ENST00000343975.5_Missense_Mutation_p.R272C|HMGCR_ENST00000511206.1_Missense_Mutation_p.R272C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	272					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TGCTCACAGTCGCTGGATAGC	0.368													False	0	False	5:74646647	0	T	74646647	C	T	74646647	3	4	24	1	0	0	0	0	1	0	0	0	7278	884	31	1	844	1	HMGCR	5	74646647	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		74646647	106268613	28	1971											
PCDHB12	0	broad.mit.edu	37	chr5	140589361	140589361	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcgcaagacatttgaaatTaatcaaaagtctggtgacat	7	6	2	3			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:140589361T>G	ENST00000239450.2	+	1	1071	c.882T>G	c.(880-882)atT>atG	p.I294M	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		294	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTTGAAATTAATCAAAAGT	0.398													False	0	False	5:140589361	0	G	140589361	T	G	140589361	3	3	24	1	0	0	0	0	1	0	0	0	11605	1742	61	4	884	4	PCDHB12	5	140589361	Missense_Mutation	SNP	T	TCGA-3A-A9IC-01A-11D-A38G-08	65942714	140589361	40325899	29	1972											
TCERG1	10915	broad.mit.edu	37	chr5	145838683	145838683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggcccaagcccaagcCcaggcccaggctcaggctca	11	19	2	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr5:145838683C>T	ENST00000296702.5	+	4	713	c.675C>T	c.(673-675)gcC>gcT	p.A225A	TCERG1_ENST00000394421.2_Silent_p.A225A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	225	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aagcccaagcccaggcccagg	0.701													False	0	True	5:145838683	0	T	145838683	C	T	145838683	2	4	24	1	0	0	0	0	0	0	0	1	15767	610	22	2		2	TCERG1	5	145838683	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	5249322	145838683	35076577	30	1973											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28327520	28327520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagcgcttccgaggcttcCgctacccggaggctgcaggc	15	15	0	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:28327520C>T	ENST00000377255.3	+	3	454	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R53C	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	53	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CCGAGGCTTCCGCTACCCGGA	0.632													False	0	False	6:28327520	0	T	28327520	C	T	28327520	3	4	24	1	0	0	0	0	1	0	0	0	17771	652	23	1	159	1	ZKSCAN3	6	28327520	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		28327520	142787547	31	1974											
REV3L	5980	broad.mit.edu	37	chr6	111693843	111693843	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggattactgcaaaatggttcCtggtaaatagtctcagacag	10	7	1	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:111693843C>G	ENST00000435970.1	-	15	6297	c.5481G>C	c.(5479-5481)caG>caC	p.Q1827H	REV3L_ENST00000358835.3_Missense_Mutation_p.Q1905H|REV3L_ENST00000368802.3_Missense_Mutation_p.Q1905H|REV3L_ENST00000368805.1_Missense_Mutation_p.Q1905H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1905					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAATGGTTCCTGGTAAATAG	0.383								DNA polymerases (catalytic subunits)					False	0	False	6:111693843	0	G	111693843	C	G	111693843	3	3	24	1	0	0	0	0	1	0	0	0	13319	680	24	5	3757	5	REV3L	6	111693843	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	83366323	111693843	59421224	32	1975											
SYNE1	23345	broad.mit.edu	37	chr6	152763329	152763329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccctgctgcgcctgcgCgatctgctgctgcacatctc	9	17	3	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr6:152763329C>T	ENST00000367255.5	-	31	4490	c.3889G>A	c.(3889-3891)Gcg>Acg	p.A1297T	SYNE1_ENST00000423061.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1363T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1297T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1287T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1297					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCGCCTGCGCGATCTGCTGC	0.557										HNSCC(10;0.0054)			False	0	False	6:152763329	0	T	152763329	C	T	152763329	3	4	24	1	0	0	0	0	1	0	0	0	15527	768	27	1	23041	1	SYNE1	6	152763329	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	41069486	152763329	18351738	33	1976											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067282	18067282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacactctcatcaatttccaCgcaggtctcctggttgctga	7	14	3	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:18067282C>T	ENST00000506618.2	-	1	204	c.124G>A	c.(124-126)Gtg>Atg	p.V42M		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	42					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCAATTTCCACGCAGGTCTCC	0.502													False	0	False	7:18067282	0	T	18067282	C	T	18067282	3	4	24	1	0	0	0	0	1	0	0	0	12655	536	19	1	836	1	PRPS1L1	7	18067282	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		18067282	141071381	34	1977											
PKD1L1	168507	broad.mit.edu	37	chr7	47898412	47898412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgtcaatcacaaatggCcccgagaactggccttgagc	9	13	2	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:47898412C>T	ENST00000289672.2	-	27	4271	c.4221G>A	c.(4219-4221)ggG>ggA	p.G1407G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1407	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCACAAATGGCCCCGAGAACT	0.478													False	0	True	7:47898412	0	T	47898412	C	T	47898412	2	4	24	1	0	0	0	0	0	0	0	1	12033	726	26	2		2	PKD1L1	7	47898412	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	29831130	47898412	111240251	35	1978											
DNAJC30	84277	broad.mit.edu	37	chr7	73097630	73097630	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgtgcgcgaatacgagcagtCgccctgggaataagtcctcg	13	12	0	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:73097630C>A	ENST00000395176.2	-	1	153	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	WBSCR22_ENST00000464615.1_3'UTR	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	42					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)	4						TACGAGCAGTCGCCCTGGGAA	0.607													False	0	False	7:73097630	0	A	73097630	C	A	73097630	3	1	24	1	0	0	0	0	1	0	0	0	4678	884	31	3	560	3	DNAJC30	7	73097630	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	25199218	73097630	86041033	36	1979											
GTPBP10	85865	broad.mit.edu	37	chr7	89984432	89984432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaatgacagaattttgGtagctcaaggaggtcttggt	12	4	2	3			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:89984432G>A	ENST00000222511.6	+	4	418	c.352G>A	c.(352-354)Gta>Ata	p.V118I	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	118					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						CAGAATTTTGGTAGCTCAAGG	0.318													False	0	False	7:89984432	0	A	89984432	G	A	89984432	3	1	24	1	0	0	0	0	1	0	0	0	6926	1261	44	2	366	2	GTPBP10	7	89984432	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	16886802	89984432	69154231	37	1980											
EPO	2056	broad.mit.edu	37	chr7	100320671	100320671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcactgctgacactttccGcaaactcttccgagtctact	5	14	3	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:100320671G>A	ENST00000252723.2	+	5	678	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	166					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GACACTTTCCGCAAACTCTTC	0.572													False	0	False	7:100320671	0	A	100320671	G	A	100320671	3	1	24	1	0	0	0	0	1	0	0	0	5220	1087	38	1	515	1	EPO	7	100320671	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	10336239	100320671	58817992	38	1981											
MUC17	140453	broad.mit.edu	37	chr7	100687041	100687041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaccaccgctgtccccaCgaatactacaattaagagca	6	15	0	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:100687041C>T	ENST00000306151.4	+	3	12408	c.12344C>T	c.(12343-12345)aCg>aTg	p.T4115M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4115						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGTCCCCACGAATACTACA	0.478													False	0	False	7:100687041	0	T	100687041	C	T	100687041	3	4	24	1	0	0	0	0	1	0	0	0	10041	536	19	1	12354	1	MUC17	7	100687041	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	366370	100687041	58451622	39	1982											
DPP6	1804	broad.mit.edu	37	chr7	154585899	154585899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcgacgccaccacggGggtctgcacgaaggtacgcg	14	15	2	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr7:154585899G>A	ENST00000404039.1	+	11	1642	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	DPP6_ENST00000427557.1_Missense_Mutation_p.G309E|DPP6_ENST00000377770.3_Missense_Mutation_p.G416E|DPP6_ENST00000332007.3_Missense_Mutation_p.G354E	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	416					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCCACCACGGGGGTCTGCACG	0.672													False	0	True	7:154585899	0	A	154585899	G	A	154585899	3	1	24	1	0	0	0	0	1	0	0	0	4760	1232	43	2	1405	2	DPP6	7	154585899	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	53898858	154585899	4552764	40	1983											
ADCY8	114	broad.mit.edu	37	chr8	131916097	131916097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggccccactgtttctcCggtctgaggagctcactgac	11	13	3	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr8:131916097C>T	ENST00000286355.5	-	7	3924	c.1832G>A	c.(1831-1833)cGg>cAg	p.R611Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R611Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	611					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTGTTTCTCCGGTCTGAGGA	0.478										HNSCC(32;0.087)			False	0	False	8:131916097	0	T	131916097	C	T	131916097	3	4	24	1	0	0	0	0	1	0	0	0	300	652	23	1	1971	1	ADCY8	8	131916097	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		131916097	14447925	41	1984											
ANKRD30A	91074	broad.mit.edu	37	chr10	37478443	37478443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtgtttacccaaggctAcgcatcaaaaagaaatagat	8	7	1	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr10:37478443A>G	ENST00000374660.1	+	31	2758	c.2659A>G	c.(2659-2661)Acg>Gcg	p.T887A	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000475522.1_3'UTR			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	943						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.T768A(2)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACCCAAGGCTACGCATCAAAA	0.289													False	0	False	10:37478443	0	G	37478443	A	G	37478443	3	3	24	1	0	0	0	0	1	0	0	0	658	391	14	4	2400	4	ANKRD30A	10	37478443	Missense_Mutation	SNP	A	TCGA-3A-A9IC-01A-11D-A38G-08		37478443	98056304	42	1985											
MUC6	4588	broad.mit.edu	37	chr11	1016106	1016106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatggggtgggagacacgGtaacagtggatatggggagt	20	3	0	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:1016106G>A	ENST00000421673.2	-	31	6745	c.6695C>T	c.(6694-6696)aCc>aTc	p.T2232I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2232	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGACACGGTAACAGTGGA	0.602													False	0	False	11:1016106	0	A	1016106	G	A	1016106	3	1	24	1	0	0	0	0	1	0	0	0	10047	1261	44	2	636	2	MUC6	11	1016106	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		1016106	133990410	43	1986											
SMPD1	6609	broad.mit.edu	37	chr11	6413007	6413007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggttctggcctgccgcccGcatcccggccaggtgccgga	16	16	1	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:6413007G>A	ENST00000342245.4	+	2	880	c.712G>A	c.(712-714)Gca>Aca	p.A238T	SMPD1_ENST00000356761.2_Missense_Mutation_p.A238T|SMPD1_ENST00000299397.3_Missense_Mutation_p.A238T|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Missense_Mutation_p.A237T	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	236					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CCTGCCGCCCGCATCCCGGCC	0.672													False	0	True	11:6413007	0	A	6413007	G	A	6413007	3	1	24	1	0	0	0	0	1	0	0	0	14884	1087	38	1	718	1	SMPD1	11	6413007	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	5396901	6413007	128593509	44	1987											
PRDM11	56981	broad.mit.edu	37	chr11	45246046	45246046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccaaataccaggatgacGcctacagtcagtgtgcaaca	8	13	1	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:45246046G>A	ENST00000263765.4	+	8	1372	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.A375T|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.A341T			Q9NQV5	PRD11_HUMAN	PR domain containing 11	375										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAGGATGACGCCTACAGTCA	0.577													False	0	False	11:45246046	0	A	45246046	G	A	45246046	3	1	24	1	0	0	0	0	1	0	0	0	12528	1087	38	1	1149	1	PRDM11	11	45246046	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	38833039	45246046	89760470	45	1988											
TMX2	51075	broad.mit.edu	37	chr11	57506679	57506679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtggcaaggaggcaatgCggcggccacagattgacaag	16	8	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:57506679C>T	ENST00000278422.4	+	7	703	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	TMX2_ENST00000378312.4_Missense_Mutation_p.R193W|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	231	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAGGCAATGCGGCGGCCACA	0.547													False	0	False	11:57506679	0	T	57506679	C	T	57506679	3	4	24	1	0	0	0	0	1	0	0	0	16349	759	27	1	717	1	TMX2	11	57506679	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	12260633	57506679	77499837	46	1989											
CD6	923	broad.mit.edu	37	chr11	60777109	60777109	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggtggaggtacacttcCgaggggtctggaacacagtg	17	8	1	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:60777109C>T	ENST00000313421.7	+	5	1033	c.847C>T	c.(847-849)Cga>Tga	p.R283*	CD6_ENST00000344028.5_Nonsense_Mutation_p.R283*|CD6_ENST00000346437.4_Nonsense_Mutation_p.R283*|CD6_ENST00000452451.2_Nonsense_Mutation_p.R283*|CD6_ENST00000352009.5_Nonsense_Mutation_p.R283*|CD6_ENST00000545105.1_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	283	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGTACACTTCCGAGGGGTCTG	0.642													False	0	False	11:60777109	0	T	60777109	C	T	60777109	4	4	24	1	0	0	0	0	0	1	0	0	3051	644	23	1	865	1	CD6	11	60777109	Nonsense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	3270430	60777109	74229407	47	1990											
SLC22A11	55867	broad.mit.edu	37	chr11	64329557	64329557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accatcttcgccccaacattCgtcatctactgcggcctgcg	7	17	3	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:64329557C>A	ENST00000301891.4	+	3	953	c.579C>A	c.(577-579)ttC>ttA	p.F193L	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Missense_Mutation_p.F193L|SLC22A11_ENST00000377581.3_Missense_Mutation_p.F193L	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	193					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CCCCAACATTCGTCATCTACT	0.617											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	11:64329557	0	A	64329557	C	A	64329557	3	1	24	1	0	0	0	0	1	0	0	0	14523	883	31	3	589	3	SLC22A11	11	64329557	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	3552448	64329557	70676959	48	1991											
CTTN	2017	broad.mit.edu	37	chr11	70281225	70281225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcggggtgtgcaagggccGgtacgggctcttcccagcca	17	13	1	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:70281225G>A	ENST00000301843.8	+	18	1816	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	CTTN_ENST00000376561.3_Splice_Site_p.R500_splice|CTTN_ENST00000538675.1_Splice_Site_p.R221_splice|CTTN_ENST00000346329.3_Missense_Mutation_p.R500Q	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	537	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGCAAGGGCCGGTACGGGCTC	0.627													False	0	False	11:70281225	0	A	70281225	G	A	70281225	3	1	24	1	0	0	0	0	1	0	0	0	4069	1130	39	1	1672	1	CTTN	11	70281225	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	5951668	70281225	64725291	49	1992											
UVRAG	7405	broad.mit.edu	37	chr11	75562938	75562938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatttttcagcggcgtcttcGacatcttcggaacattgctg	9	10	3	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:75562938G>A	ENST00000356136.3	+	2	369	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	UVRAG_ENST00000528420.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	43					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CGGCGTCTTCGACATCTTCGG	0.363													False	0	False	11:75562938	0	A	75562938	G	A	75562938	3	1	24	1	0	0	0	0	1	0	0	0	17192	1058	37	1	134	1	UVRAG	11	75562938	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	5281713	75562938	59443578	50	1993											
OR10S1	219873	broad.mit.edu	37	chr11	123847671	123847671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccggccctgggctgtgCggatgcgcaacacagctgcc	15	15	0	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr11:123847671C>T	ENST00000531945.1	-	1	817	c.728G>A	c.(727-729)cGc>cAc	p.R243H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R243H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGGGCTGTGCGGATGCGCAA	0.602													False	0	False	11:123847671	0	T	123847671	C	T	123847671	3	4	24	1	0	0	0	0	1	0	0	0	10986	768	27	1	271	1	OR10S1	11	123847671	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	48284733	123847671	11158845	51	1994											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	24	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		25398285	108453610	52	1995											
KRT78	196374	broad.mit.edu	37	chr12	53233575	53233575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgccctccagcagcctgCggtaagtggcaatctccaca	9	17	1	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:53233575C>T	ENST00000359499.4	-	7	922	c.911G>A	c.(910-912)cGc>cAc	p.R304H	KRT78_ENST00000304620.4_Missense_Mutation_p.R414H			Q8N1N4	K2C78_HUMAN	keratin 78	414	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGCAGCCTGCGGTAAGTGGC	0.607													False	0	False	12:53233575	0	T	53233575	C	T	53233575	3	4	24	1	0	0	0	0	1	0	0	0	8541	768	27	1	333	1	KRT78	12	53233575	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	27835290	53233575	80618320	53	1996											
CRADD	8738	broad.mit.edu	37	chr12	94244044	94244044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcctgcacatgttggaGtgatggtgcctccagcaacc	11	13	0	1	rs116316289	byFrequency	TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:94244044G>A	ENST00000542893.2	+	3	915	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000332896.3_Silent_p.E199E			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	199					apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						ACATGTTGGAGTGATGGTGCC	0.597													False	0	False	12:94244044	0	A	94244044	G	A	94244044	2	1	24	1	0	0	0	0	0	0	0	1	3868	1020	36	2		2	CRADD	12	94244044	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	41010469	94244044	39607851	54	1997											
BTBD11	121551	broad.mit.edu	37	chr12	108045502	108045502	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggctttgcagcgacactgtGagattatctgtgcgaaaagc	12	8	1	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:108045502G>A	ENST00000280758.5	+	16	3571	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K	BTBD11_ENST00000494235.2_Missense_Mutation_p.E94K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E552K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E896K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1015						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCGACACTGTGAGATTATCTG	0.463													False	0	False	12:108045502	0	A	108045502	G	A	108045502	3	1	24	1	0	0	0	0	1	0	0	0	1546	1291	45	2	3210	2	BTBD11	12	108045502	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	13801458	108045502	25806393	55	1998											
CIT	11113	broad.mit.edu	37	chr12	120198768	120198768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgttcgctgagaattttgCccttctcatgggcctcctcc	8	14	2	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:120198768C>T	ENST00000392521.2	-	20	2451	c.2396G>A	c.(2395-2397)gGc>gAc	p.G799D	CIT_ENST00000261833.7_Missense_Mutation_p.G757D|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	757					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGAATTTTGCCCTTCTCATG	0.468													False	0	True	12:120198768	0	T	120198768	C	T	120198768	3	4	24	1	0	0	0	0	1	0	0	0	3461	739	26	2	3929	2	CIT	12	120198768	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	12153266	120198768	13653127	56	1999											
CIT	11113	broad.mit.edu	37	chr12	120271946	120271946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaaatcagctcagctagGtaaaactgtatcaggttttc	8	9	3	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr12:120271946G>A	ENST00000392521.2	-	6	658	c.603C>T	c.(601-603)taC>taT	p.Y201Y	CIT_ENST00000261833.7_Silent_p.Y201Y	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	201	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTCAGCTAGGTAAAACTGTA	0.438													False	0	False	12:120271946	0	A	120271946	G	A	120271946	2	1	24	1	0	0	0	0	0	0	0	1	3461	1256	44	2		2	CIT	12	120271946	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	73178	120271946	13579949	57	2000											
LPAR6	10161	broad.mit.edu	37	chr13	48986341	48986341	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgttgtgaagtaaaaaatCctgaagggtaaagtaaaaac	10	4	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:48986341C>T	ENST00000378434.4	-	7	1843	c.219G>A	c.(217-219)agG>agA	p.R73R	LPAR6_ENST00000345941.2_Silent_p.R73R|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	73						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						AGTAAAAAATCCTGAAGGGTA	0.358													False	0	False	13:48986341	0	T	48986341	C	T	48986341	2	4	24	1	0	0	0	0	0	0	0	1	8971	854	30	2		2	LPAR6	13	48986341	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		48986341	66183537	58	2001											
PCDH17	27253	broad.mit.edu	37	chr13	58208067	58208067	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agtcgttcgcgatcaagattCtagacgagaacgacaacccg	10	11	2	3			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:58208067C>G	ENST00000377918.3	+	1	1413	c.1387C>G	c.(1387-1389)Cta>Gta	p.L463V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	463	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GATCAAGATTCTAGACGAGAA	0.602													False	0	False	13:58208067	0	G	58208067	C	G	58208067	3	3	24	1	0	0	0	0	1	0	0	0	11580	912	32	5	1389	5	PCDH17	13	58208067	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	9221726	58208067	56961811	59	2002											
DOCK9	23348	broad.mit.edu	37	chr13	99567729	99567729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtcctgcatcttgagcTcaaaagcaaaacgcctgact	7	11	2	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr13:99567729T>C	ENST00000376460.1	-	8	826	c.746A>G	c.(745-747)gAg>gGg	p.E249G	DOCK9_ENST00000448493.2_Missense_Mutation_p.E261G|DOCK9_ENST00000442173.1_Missense_Mutation_p.E249G|DOCK9_ENST00000339416.2_Missense_Mutation_p.E250G	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	250	PH.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATCTTGAGCTCAAAAGCAAA	0.353													False	0	False	13:99567729	0	C	99567729	T	C	99567729	3	2	24	1	0	0	0	0	1	0	0	0	4724	1551	54	4	5717	4	DOCK9	13	99567729	Missense_Mutation	SNP	T	TCGA-3A-A9IC-01A-11D-A38G-08	41359662	99567729	15602149	60	2003											
ATP10A	57194	broad.mit.edu	37	chr15	25940081	25940081	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgcttggcaaggaagagGaatttgtcctccaggttttt	11	8	0	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr15:25940081G>A	ENST00000356865.6	-	14	3084	c.2973C>T	c.(2971-2973)ttC>ttT	p.F991F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	991					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAAGGAAGAGGAATTTGTCCT	0.617													False	0	False	15:25940081	0	A	25940081	G	A	25940081	2	1	24	1	0	0	0	0	0	0	0	1	1120	1165	41	2		2	ATP10A	15	25940081	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		25940081	76591311	61	2004											
TPSD1	23430	broad.mit.edu	37	chr16	1306874	1306874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggaccagctgctgccgGtcagcaggatcatcgtgcac	12	14	2	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:1306874G>A	ENST00000211076.3	+	3	479	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	TPSD1_ENST00000397534.2_Missense_Mutation_p.V104I	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	111	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCTGCTGCCGGTCAGCAGGAT	0.627													False	0	False	16:1306874	0	A	1306874	G	A	1306874	3	1	24	1	0	0	0	0	1	0	0	0	16508	1261	44	2	341	2	TPSD1	16	1306874	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		1306874	89047879	62	2005											
ADCY9	115	broad.mit.edu	37	chr16	4016559	4016559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggcttgcttaggagctcGtcaaagtccccgatgagctc	11	13	1	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:4016559G>A	ENST00000294016.3	-	11	3817	c.3279C>T	c.(3277-3279)gaC>gaT	p.D1093D		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1093	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTAGGAGCTCGTCAAAGTCCC	0.597													False	0	False	16:4016559	0	A	4016559	G	A	4016559	2	1	24	1	0	0	0	0	0	0	0	1	301	1136	40	1		1	ADCY9	16	4016559	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	2709685	4016559	86338194	63	2006											
ZNF720	124411	broad.mit.edu	37	chr16	31766391	31766391	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtaaagaatgtggtaaatCatttaaagtgtcttcagccc	8	6	3	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:31766391C>A	ENST00000399681.3	+	6	1258	c.779C>A	c.(778-780)tCa>tAa	p.S260*	ZNF720_ENST00000316491.9_Intron|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron			Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						TGTGGTAAATCATTTAAAGTG	0.368													False	0	False	16:31766391	0	A	31766391	C	A	31766391	4	1	24	1	0	0	0	0	0	1	0	0	18204	841	29	3		3	ZNF720	16	31766391	Nonsense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	27749832	31766391	58588362	64	2007											
SLC6A2	6530	broad.mit.edu	37	chr16	55730216	55730216	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctgggctgttgtgtttttCgtcatgctcctggcgctggg	14	9	2	0	rs149035289		TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr16:55730216C>T	ENST00000379906.2	+	8	1482	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SLC6A2_ENST00000561820.1_Silent_p.F409F|SLC6A2_ENST00000568943.1_Silent_p.F409F|SLC6A2_ENST00000414754.3_Silent_p.F409F|SLC6A2_ENST00000567238.1_Silent_p.F304F|SLC6A2_ENST00000219833.8_Silent_p.F409F|SLC6A2_ENST00000566163.1_Silent_p.F364F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	409					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTGTGTTTTTCGTCATGCTCC	0.542													False	0	True	16:55730216	0	T	55730216	C	T	55730216	2	4	24	1	0	0	0	0	0	0	0	1	14763	883	31	1		1	SLC6A2	16	55730216	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	23963825	55730216	34624537	65	2008											
SLC13A5	284111	broad.mit.edu	37	chr17	6599137	6599137	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgaccagcaggaagaagcaGatcagcacgttgatctccgc	11	11	2	4			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:6599137G>T	ENST00000433363.2	-	7	1196	c.963C>A	c.(961-963)atC>atA	p.I321I	SLC13A5_ENST00000293800.6_Silent_p.I304I|SLC13A5_ENST00000381074.4_Silent_p.I278I|SLC13A5_ENST00000573648.1_Silent_p.I321I	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	321						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGAAGAAGCAGATCAGCACGT	0.587													False	0	False	17:6599137	0	T	6599137	G	T	6599137	2	4	24	1	0	0	0	0	0	0	0	1	14476	932	33	3		3	SLC13A5	17	6599137	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		6599137	74596073	66	2009											
TP53	7157	broad.mit.edu	37	chr17	7579321	7579322	+	Frame_Shift_Del	DEL	CA	CA	-													gggcaactgaccgtgcaagtCacagacttggctgtcccaga							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:7579321_7579322delCA	ENST00000420246.2	-	4	497_498	c.365_366delTG	c.(364-366)gtgfs	p.V122fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.V122fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V122fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	122	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGTGCAAGTCACAGACTTGGC	0.554		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)			False	2	False	17:7579321	0	-	7579322	CA	-	7579321	7	5	24	1	0	1	0	1	0	0	0	0	16464	813	29	0	936	0	TP53	17	7579321	Frame_Shift_Del	DEL	CA	TCGA-3A-A9IC-01A-11D-A38G-08	980184	7579321	73615889	67	2010											
KCNH6	81033	broad.mit.edu	37	chr17	61611489	61611489	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcactgtggtggatctcatCgtggacatcatgttcgtcgt	11	10	3	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr17:61611489C>T	ENST00000583023.1	+	5	929	c.918C>T	c.(916-918)atC>atT	p.I306I	KCNH6_ENST00000581784.1_Silent_p.I306I|KCNH6_ENST00000580652.1_Silent_p.I306I|KCNH6_ENST00000314672.5_Silent_p.I306I|KCNH6_ENST00000456941.2_Silent_p.I306I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	306					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGGATCTCATCGTGGACATCA	0.597													False	0	False	17:61611489	0	T	61611489	C	T	61611489	2	4	24	1	0	0	0	0	0	0	0	1	8086	874	31	1		1	KCNH6	17	61611489	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	54032168	61611489	19583721	68	2011											
PTPRM	5797	broad.mit.edu	37	chr18	7567856	7567856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctggcgactttggccggaCttttgctaactgcggcgggc	15	12	0	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:7567856C>A	ENST00000332175.8	+	1	1077	c.40C>A	c.(40-42)Ctt>Att	p.L14I	PTPRM_ENST00000580170.1_Missense_Mutation_p.L14I|PTPRM_ENST00000400060.4_Missense_Mutation_p.L14I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	14					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTTGGCCGGACTTTTGCTAAC	0.756													False	0	True	18:7567856	0	A	7567856	C	A	7567856	3	1	24	1	0	0	0	0	1	0	0	0	12885	565	20	3	42	3	PTPRM	18	7567856	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08		7567856	70509392	69	2012											
AQP4	361	broad.mit.edu	37	chr18	24436280	24436280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttttagaatcaggtcatcCgtctctacctgactcctgtt	8	11	3	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr18:24436280C>T	ENST00000383168.4	-	5	995	c.867G>A	c.(865-867)acG>acA	p.T289T	AQP4_ENST00000440832.3_Silent_p.T267T|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Silent_p.T267T|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	289					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	p.T289T(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TCAGGTCATCCGTCTCTACCT	0.478													False	0	False	18:24436280	0	T	24436280	C	T	24436280	2	4	24	1	0	0	0	0	0	0	0	1	830	639	23	1		1	AQP4	18	24436280	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	16868424	24436280	53640968	70	2013											
ZNF558	148156	broad.mit.edu	37	chr19	8922295	8922295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatcgtgacattcataagGtttctcccctgtatgaatgc	7	10	2	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:8922295G>A	ENST00000601372.1	-	10	1582	c.871C>T	c.(871-873)Cct>Tct	p.P291S	ZNF558_ENST00000301475.1_Missense_Mutation_p.P291S|ZNF558_ENST00000444186.2_Missense_Mutation_p.P220S			Q96NG5	ZN558_HUMAN	zinc finger protein 558	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CATTCATAAGGTTTCTCCCCT	0.448													False	0	True	19:8922295	0	A	8922295	G	A	8922295	3	1	24	1	0	0	0	0	1	0	0	0	18072	1261	44	2	341	2	ZNF558	19	8922295	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		8922295	50206688	71	2014											
MUC16	94025	broad.mit.edu	37	chr19	9063069	9063069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcccctcagagctgctgGtctttctcagtccaagggtc	11	13	3	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:9063069G>A	ENST00000397910.4	-	3	24580	c.24377C>T	c.(24376-24378)aCc>aTc	p.T8126I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8128	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGCTGCTGGTCTTTCTCAG	0.527													False	0	False	19:9063069	0	A	9063069	G	A	9063069	3	1	24	1	0	0	0	0	1	0	0	0	10040	1261	44	2	19474	2	MUC16	19	9063069	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	140774	9063069	50065914	72	2015											
OR7D4	125958	broad.mit.edu	37	chr19	9325236	9325236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtgaggcaccccatgtagGagatgtctttgctccgtgcc	13	11	1	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:9325236G>A	ENST00000308682.2	-	1	306	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCCCATGTAGGAGATGTCTTT	0.488													False	0	False	19:9325236	0	A	9325236	G	A	9325236	3	1	24	1	0	0	0	0	1	0	0	0	11288	1174	41	2	664	2	OR7D4	19	9325236	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	262167	9325236	49803747	73	2016											
ZNF507	22847	broad.mit.edu	37	chr19	32845207	32845207	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacaaattctgagtctcttCgattacactcattagctgca	7	10	3	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:32845207C>T	ENST00000311921.3	+	2	1663	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	ZNF507_ENST00000544431.1_Nonsense_Mutation_p.R491*|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.R491*|ZNF507_ENST00000587084.1_3'UTR	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGAGTCTCTTCGATTACACTC	0.463													False	0	False	19:32845207	0	T	32845207	C	T	32845207	4	4	24	1	0	0	0	0	0	1	0	0	18036	876	31	1	1473	1	ZNF507	19	32845207	Nonsense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	23519971	32845207	26283776	74	2017											
ZNF302	55900	broad.mit.edu	37	chr19	35175765	35175765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctcatcacttactaacCatcagagcactcacacggga	7	13	4	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:35175765C>T	ENST00000505242.1	+	5	1317	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000457781.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000446502.2_Missense_Mutation_p.H319Y			Q9NR11	ZN302_HUMAN	zinc finger protein 302	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTTACTAACCATCAGAGCAC	0.428													False	0	False	19:35175765	0	T	35175765	C	T	35175765	3	4	24	1	0	0	0	0	1	0	0	0	17915	594	21	2	837	2	ZNF302	19	35175765	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	2330558	35175765	23953218	75	2018											
ZNF181	339318	broad.mit.edu	37	chr19	35232753	35232753	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catactggagagaaaccttaTgaatgtattaaatgtgggaa	10	4	0	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:35232753T>C	ENST00000392232.3	+	6	1767	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	ZNF181_ENST00000459757.1_Silent_p.Y488Y|ZNF181_ENST00000492450.1_Silent_p.Y489Y			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGAAACCTTATGAATGTATTA	0.388													False	0	False	19:35232753	0	C	35232753	T	C	35232753	2	2	24	1	0	0	0	0	0	0	0	1	17832	1471	51	4		4	ZNF181	19	35232753	Silent	SNP	T	TCGA-3A-A9IC-01A-11D-A38G-08	56988	35232753	23896230	76	2019											
ZNF382	84911	broad.mit.edu	37	chr19	37117303	37117303	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgacagtactggatgggaGaaatcactcctcaataccaa	10	9	2	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:37117303G>A	ENST00000435416.1	+	3	1996	c.501G>A	c.(499-501)gaG>gaA	p.E167E	ZNF382_ENST00000292928.2_Silent_p.E168E|ZNF382_ENST00000439428.1_Silent_p.E167E|ZNF382_ENST00000423582.1_Silent_p.E119E			Q96SR6	ZN382_HUMAN	zinc finger protein 382	168	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTGGATGGGAGAAATCACTCC	0.358													False	0	True	19:37117303	0	A	37117303	G	A	37117303	2	1	24	1	0	0	0	0	0	0	0	1	17956	933	33	2		2	ZNF382	19	37117303	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	1884550	37117303	22011680	77	2020											
ZNF814	730051	broad.mit.edu	37	chr19	58384887	58384887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttctccagtgtgcatgCgctgatggtgaacaaggctg	13	9	2	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chr19:58384887C>T	ENST00000435989.2	-	3	2105	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	624					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGTGTGCATGCGCTGATGGTG	0.458													False	0	False	19:58384887	0	T	58384887	C	T	58384887	3	4	24	1	0	0	0	0	1	0	0	0	18258	768	27	1	700	1	ZNF814	19	58384887	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	21267584	58384887	744096	78	2021											
ARSF	416	broad.mit.edu	37	chrX	3002668	3002668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catgaaggctgaacgagctgGatccattatggtgaaggaag	14	6	0	3			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:3002668G>T	ENST00000381127.1	+	6	1012	c.791G>T	c.(790-792)gGa>gTa	p.G264V	ARSF_ENST00000537104.1_Missense_Mutation_p.G264V|ARSF_ENST00000359361.2_Missense_Mutation_p.G264V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	264						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAACGAGCTGGATCCATTATG	0.448													False	0	False	X:3002668	0	T	3002668	G	T	3002668	3	4	24	1	0	0	0	0	1	0	0	0	995	1174	41	3	809	3	ARSF	23	3002668	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08		3002668	152267892	79	2022											
SCML1	6322	broad.mit.edu	37	chrX	17770059	17770059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatcctcttgcattatgCcctcttgtcgacctcttcag	6	14	4	1			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:17770059C>T	ENST00000380043.3	+	6	1075	c.747C>T	c.(745-747)tgC>tgT	p.C249C	SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448													False	0	True	X:17770059	0	T	17770059	C	T	17770059	2	4	24	1	0	0	0	0	0	0	0	1	13990	747	26	2		2	SCML1	23	17770059	Silent	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	14767391	17770059	137500501	80	2023											
DMD	1756	broad.mit.edu	37	chrX	32503058	32503058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtagctctttctctctGgcctgcacatcagaaaagac	8	12	5	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:32503058G>A	ENST00000357033.4	-	21	2987	c.2781C>T	c.(2779-2781)gcC>gcT	p.A927A	DMD_ENST00000378677.2_Silent_p.A923A	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	927					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTCTCTCTGGCCTGCACAT	0.408													False	0	True	X:32503058	0	A	32503058	G	A	32503058	2	1	24	1	0	0	0	0	0	0	0	1	4610	1335	47	2		2	DMD	23	32503058	Silent	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	14732999	32503058	122767502	81	2024											
ALAS2	212	broad.mit.edu	37	chrX	55042077	55042077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccaatcccagcgccccGggacccatacagtcctacag	7	20	0	0			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:55042077G>A	ENST00000330807.5	-	8	1239	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	ALAS2_ENST00000335854.4_Missense_Mutation_p.R331W|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.R355W	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	368					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CCAGCGCCCCGGGACCCATAC	0.527													False	0	True	X:55042077	0	A	55042077	G	A	55042077	3	1	24	1	0	0	0	0	1	0	0	0	485	1115	39	1	677	1	ALAS2	23	55042077	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	22539019	55042077	100228483	82	2025											
TCEAL2	140597	broad.mit.edu	37	chrX	101382205	101382205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagctgaggatgatataCccaggaaagccaaaagaaaa	10	9	0	3			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:101382205C>T	ENST00000372780.1	+	3	622	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	TCEAL2_ENST00000329035.2_Missense_Mutation_p.P135S	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GGATGATATACCCAGGAAAGC	0.483													False	0	True	X:101382205	0	T	101382205	C	T	101382205	3	4	24	1	0	0	0	0	1	0	0	0	15753	507	18	2	405	2	TCEAL2	23	101382205	Missense_Mutation	SNP	C	TCGA-3A-A9IC-01A-11D-A38G-08	46340128	101382205	53888355	83	2026											
CXorf56	63932	broad.mit.edu	37	chrX	118678401	118678405	+	Frame_Shift_Del	DEL	AAGGT	AAGGT	-													ctactgctccatccacaatgAaggtaacaggagcattcttt							TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	AAGGT	AAGGT	-	-	AAGGT	AAGGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:118678401_118678405delAAGGT	ENST00000320339.4	-	4	458_462	c.187_191delACCTT	c.(187-192)accttcfs	p.TF63fs	CXorf56_ENST00000476164.1_Frame_Shift_Del_p.TF112fs|CXorf56_ENST00000371594.4_Frame_Shift_Del_p.TF112fs|CXorf56_ENST00000536133.1_Frame_Shift_Del_p.TF98fs|CXorf56_ENST00000486230.1_Frame_Shift_Del_p.TF112fs	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	112							protein binding			cervix(1)|endometrium(2)|lung(7)	10						ATCCACAATGAAGGTAACAGGAGCA	0.444													False	1	False	X:118678401	0	-	118678405	AAGGT	-	118678401	7	5	24	1	0	1	0	1	0	0	0	0	4137	246	9	0	346	0	CXorf56	23	118678401	Frame_Shift_Del	DEL	AAGGT	TCGA-3A-A9IC-01A-11D-A38G-08	17296196	118678401	36592159	84	2027											
MAGEA3	4102	broad.mit.edu	37	chrX	151935782	151935782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttctgcctttgtgaccgGctccctggctcgatacttga	9	13	1	2			TCGA-3A-A9IC-01A-11D-A38G-08	TCGA-3A-A9IC-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79ba3599-120a-44f6-892c-3c78b1f8205a	b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae	g.chrX:151935782G>A	ENST00000393902.3	-	3	952	c.385C>T	c.(385-387)Ccg>Tcg	p.P129S	MAGEA3_ENST00000370278.3_Missense_Mutation_p.P129S			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	129	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTGACCGGCTCCCTGGCT	0.522													False	0	False	X:151935782	0	A	151935782	G	A	151935782	3	1	24	1	0	0	0	0	1	0	0	0	9232	1203	42	2	563	2	MAGEA3	23	151935782	Missense_Mutation	SNP	G	TCGA-3A-A9IC-01A-11D-A38G-08	33257381	151935782	3334778	85	2028											
EPB41	2035	broad.mit.edu	37	chr1	29314224	29314224	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctcaaaaggcccaaatCtcaggtgtccgaggaagaag	11	9	2	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:29314224C>A	ENST00000343067.4	+	2	402	c.275C>A	c.(274-276)tCt>tAt	p.S92Y	EPB41_ENST00000356093.2_Missense_Mutation_p.S92Y|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.S92Y|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.S92Y|EPB41_ENST00000373798.1_Missense_Mutation_p.S92Y|EPB41_ENST00000373797.1_Missense_Mutation_p.S92Y	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	92					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGGCCCAAATCTCAGGTGTCC	0.443													False	0	False	1:29314224	0	A	29314224	C	A	29314224	3	1	25	1	0	0	0	0	1	0	0	0	5183	913	32	3	277	3	EPB41	1	29314224	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		29314224	219936397	1	2029											
HIST2H3D	653604	broad.mit.edu	37	chr1	149784858	149784858	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgcggatgcggcgggccaActggatgtccttgggcatga	16	12	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:149784858A>G	ENST00000331491.1	-	1	378	c.379T>C	c.(379-381)Ttg>Ctg	p.L127L		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	127					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGGCGGGCCAACTGGATGTCC	0.587													False	0	False	1:149784858	0	G	149784858	A	G	149784858	2	3	25	1	0	0	0	0	0	0	0	1	7228	40	2	4		4	HIST2H3D	1	149784858	Silent	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	120470634	149784858	99465763	2	2030											
CTSS	1520	broad.mit.edu	37	chr1	150722622	150722622	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatgtggcagcacgatatTttgagtcatattgacatttc	8	7	1	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:150722622T>G	ENST00000368985.3	-	6	913	c.653A>C	c.(652-654)aAa>aCa	p.K218T	CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.K168T	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	218					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCACGATATTTTGAGTCATA	0.393													False	0	True	1:150722622	0	G	150722622	T	G	150722622	3	3	25	1	0	0	0	0	1	0	0	0	4066	1841	64	4	354	4	CTSS	1	150722622	Missense_Mutation	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08	937764	150722622	98527999	3	2031											
ASH1L	55870	broad.mit.edu	37	chr1	155449582	155449582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatttagagccaaatgtggCagcaagacttgataccgtat	9	8	0	3			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:155449582C>T	ENST00000368346.3	-	3	3718	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T	ASH1L_ENST00000392403.3_Missense_Mutation_p.A1027T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1027					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCAAATGTGGCAGCAAGACTT	0.368													False	0	False	1:155449582	0	T	155449582	C	T	155449582	3	4	25	1	0	0	0	0	1	0	0	0	1045	710	25	2	5919	2	ASH1L	1	155449582	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	4726960	155449582	93801039	4	2032											
OR2G2	81470	broad.mit.edu	37	chr1	247751947	247751947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaacccatgaaaactatcGcctatggtggctgtttggtt	12	8	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr1:247751947G>A	ENST00000320065.1	+	1	286	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAAACTATCGCCTATGGTGG	0.527													False	0	False	1:247751947	0	A	247751947	G	A	247751947	3	1	25	1	0	0	0	0	1	0	0	0	11066	1087	38	1	288	1	OR2G2	1	247751947	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	92302365	247751947	1498674	5	2033											
CGREF1	10669	broad.mit.edu	37	chr2	27327322	27327322	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagatgggctgggttagacaCaagcgcattttctgcctgct	12	10	1	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:27327322C>A	ENST00000404694.3	-	1	283	c.279G>T	c.(277-279)ttG>ttT	p.L93F	CGREF1_ENST00000402394.1_Intron|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_Intron|CGREF1_ENST00000312734.4_Intron|CGREF1_ENST00000452318.2_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	0	EF-hand 1.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTTAGACACAAGCGCATTT	0.547													False	0	False	2:27327322	0	A	27327322	C	A	27327322	3	1	25	1	0	0	0	0	1	0	0	0	3328	493	17	3		3	CGREF1	2	27327322	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		27327322	215872051	6	2034											
BIRC6	57448	broad.mit.edu	37	chr2	32582309	32582309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgtgctgagcgcaggccGgaagatggcggctgcggctg	19	9	0	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:32582309G>A	ENST00000421745.2	+	1	214	c.80G>A	c.(79-81)cGg>cAg	p.R27Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	27					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGCGCAGGCCGGAAGATGGCG	0.746													False	0	False	2:32582309	0	A	32582309	G	A	32582309	3	1	25	1	0	0	0	0	1	0	0	0	1443	1116	39	1	82	1	BIRC6	2	32582309	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	5254987	32582309	210617064	7	2035											
RETSAT	54884	broad.mit.edu	37	chr2	85571747	85571747	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgtgtcatagtaaacaTagtagttggtggacggcaga	13	6	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:85571747T>C	ENST00000295802.4	-	7	1338	c.1226A>G	c.(1225-1227)tAt>tGt	p.Y409C	RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000263854.6_Missense_Mutation_p.Y409C|RETSAT_ENST00000457495.2_Missense_Mutation_p.Y348C	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	409					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	ATAGTAAACATAGTAGTTGGT	0.567													False	0	False	2:85571747	0	C	85571747	T	C	85571747	3	2	25	1	0	0	0	0	1	0	0	0	13317	1406	49	4	626	4	RETSAT	2	85571747	Missense_Mutation	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08	52989438	85571747	157627626	8	2036											
INPP4A	3631	broad.mit.edu	37	chr2	99163121	99163121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaagtcaggaggtctccGcaaaaagctgcacaaatttg	9	8	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:99163121G>A	ENST00000409016.4	+	13	1524	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	INPP4A_ENST00000523221.1_Missense_Mutation_p.R376H|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Missense_Mutation_p.R376H|INPP4A_ENST00000409851.3_Missense_Mutation_p.R376H|INPP4A_ENST00000074304.5_Missense_Mutation_p.R376H|INPP4A_ENST00000545415.1_Missense_Mutation_p.R376H			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGGTCTCCGCAAAAAGCTG	0.458													False	0	False	2:99163121	0	A	99163121	G	A	99163121	3	1	25	1	0	0	0	0	1	0	0	0	7802	1087	38	1	1169	1	INPP4A	2	99163121	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	13591374	99163121	144036252	9	2037											
STAT1	6772	broad.mit.edu	37	chr2	191859900	191859900	+	Silent	SNP	A	A	T													tccaattcctccaactttttAagctgctgccgaacttgctg							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:191859900A>T	ENST00000361099.3	-	10	1218	c.831T>A	c.(829-831)ctT>ctA	p.L277L	STAT1_ENST00000409465.1_Silent_p.L277L|STAT1_ENST00000392323.2_Silent_p.L279L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Silent_p.L277L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	277					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CCAACTTTTTAAGCTGCTGCC	0.458													False	0	True	2:191859900	0	T	191859900	A	T	191859900	2	4	25	1	0	0	0	0	0	0	0	1	15346	349	13	5		5	STAT1	2	191859900	Silent	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	92696779	191859900	51339473	10	2038	18	2									
STAT1	6772	broad.mit.edu	37	chr2	191859901	191859901	+	Missense_Mutation	SNP	A	A	T													ccaattcctccaactttttaAgctgctgccgaacttgctgc							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:191859901A>T	ENST00000361099.3	-	10	1217	c.830T>A	c.(829-831)cTt>cAt	p.L277H	STAT1_ENST00000409465.1_Missense_Mutation_p.L277H|STAT1_ENST00000392323.2_Missense_Mutation_p.L279H|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.L277H	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	277					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CAACTTTTTAAGCTGCTGCCG	0.458													False	0	False	2:191859901	0	T	191859901	A	T	191859901	3	4	25	1	0	0	0	0	1	0	0	0	15346	72	3	5	1490	5	STAT1	2	191859901	Missense_Mutation	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	1	191859901	51339472	11	2039	18	2									
SGOL2	151246	broad.mit.edu	37	chr2	201438010	201438030	+	In_Frame_Del	DEL	AAAGTAGTTAAAAAACGTAAG	AAAGTAGTTAAAAAACGTAAG	-													atcaaattttagattcctacAaagtagttaaaaaacgtaag							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	AAAGTAGTTAAAAAACGTAAG	AAAGTAGTTAAAAAACGTAAG	-	-	AAAGTAGTTAAAAAACGTAAG	AAAGTAGTTAAAAAACGTAAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr2:201438010_201438030delAAAGTAGTTAAAAAACGTAAG	ENST00000357799.4	+	7	3039_3059	c.2941_2961delAAAGTAGTTAAAAAACGTAAG	c.(2941-2961)aaagtagttaaaaaacgtaagdel	p.KVVKKRK981del		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	981					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.V982E(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGATTCCTACAAAGTAGTTAAAAAACGTAAGAAAGAATCAT	0.308													False	1	True	2:201438010	0	-	201438030	AAAGTAGTTAAAAAACGTAAG	-	201438010	7	5	25	1	0	1	0	1	0	0	0	0	14298	131	5	0	2963	0	SGOL2	2	201438010	In_Frame_Del	DEL	AAAGTAGTTAAAAAACGTAAG	TCGA-3A-A9IH-01A-12D-A397-08	9578109	201438010	41761363	12	2040											
GHRL	51738	broad.mit.edu	37	chr3	10331548	10331548	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcttggctggtggcttcttCgactcctttctctgctggaa	11	11	2	0	rs146899970	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:10331548C>T	ENST00000335542.8	-	4	993	c.123G>A	c.(121-123)tcG>tcA	p.S41S	GHRL_ENST00000429122.1_Silent_p.S41S|GHRL_ENST00000457360.1_Silent_p.S41S|GHRL_ENST00000449238.2_Silent_p.S28S|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000437422.2_Silent_p.S29S|GHRL_ENST00000450603.1_Silent_p.S41S|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000439975.2_Intron|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000287656.7_Silent_p.S40S|GHRL_ENST00000422159.1_Silent_p.S41S|GHRL_ENST00000430179.1_Silent_p.S40S|GHRL_ENST00000449554.2_Silent_p.S40S|GHRLOS_ENST00000605014.1_RNA			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	41					actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						GTGGCTTCTTCGACTCCTTTC	0.572													False	0	False	3:10331548	0	T	10331548	C	T	10331548	2	4	25	1	0	0	0	0	0	0	0	1	6419	871	31	1		1	GHRL	3	10331548	Silent	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		10331548	187690882	13	2041											
EIF2B5	8893	broad.mit.edu	37	chr3	183860631	183860631	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagtatggattctgaggaGccggacagccggggaggctc	16	9	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr3:183860631G>A	ENST00000273783.3	+	11	1733	c.1611G>A	c.(1609-1611)gaG>gaA	p.E537E	EIF2B5_ENST00000444495.1_Silent_p.E537E	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	537					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATTCTGAGGAGCCGGACAGCC	0.483													False	0	False	3:183860631	0	A	183860631	G	A	183860631	2	1	25	1	0	0	0	0	0	0	0	1	5034	962	34	2		2	EIF2B5	3	183860631	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	173529083	183860631	14161799	14	2042											
SPOCK3	50859	broad.mit.edu	37	chr4	167713399	167713399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggccttgaaccagtcccGcaatctgtttgccacttccc	8	15	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:167713399G>A	ENST00000357154.3	-	8	777	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	SPOCK3_ENST00000541354.1_Missense_Mutation_p.R94W|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R118W|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R163W|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R211W	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	214					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AACCAGTCCCGCAATCTGTTT	0.393													False	0	True	4:167713399	0	A	167713399	G	A	167713399	3	1	25	1	0	0	0	0	1	0	0	0	15163	1086	38	1	690	1	SPOCK3	4	167713399	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08		167713399	23440877	15	2043											
HMGB2	3148	broad.mit.edu	37	chr4	174253329	174253329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttctttgagcctgttgGcctgccagggcccttctttc	9	14	3	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr4:174253329G>A	ENST00000296503.5	-	5	1405	c.532C>T	c.(532-534)Cca>Tca	p.P178S	HMGB2_ENST00000438704.2_Missense_Mutation_p.P178S|HMGB2_ENST00000446922.2_Missense_Mutation_p.P178S			P26583	HMGB2_HUMAN	high mobility group box 2	178					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GAGCCTGTTGGCCTGCCAGGG	0.433													False	0	False	4:174253329	0	A	174253329	G	A	174253329	3	1	25	1	0	0	0	0	1	0	0	0	7273	1203	42	2	101	2	HMGB2	4	174253329	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	6539930	174253329	16900947	16	2044											
ATG10	83734	broad.mit.edu	37	chr5	81474399	81474399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaccatgggacactattaCgcaacaggttggagagtatt	13	7	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:81474399C>T	ENST00000282185.3	+	5	740	c.446C>T	c.(445-447)aCg>aTg	p.T149M	ATG10_ENST00000513634.1_Missense_Mutation_p.T149M|ATG10_ENST00000458350.3_Missense_Mutation_p.T149M|ATG10_ENST00000514253.2_3'UTR	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	149					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		GACACTATTACGCAACAGGTT	0.433													False	0	False	5:81474399	0	T	81474399	C	T	81474399	3	4	25	1	0	0	0	0	1	0	0	0	1093	536	19	1	460	1	ATG10	5	81474399	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		81474399	99440861	17	2045											
APC	324	broad.mit.edu	37	chr5	112170693	112170693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccttatggaatttgtcaGcacattgcactgagaataaa	9	7	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:112170693G>A	ENST00000457016.1	+	15	2169	c.1789G>A	c.(1789-1791)Gca>Aca	p.A597T	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A597T|APC_ENST00000508376.2_Missense_Mutation_p.A597T			P25054	APC_HUMAN	adenomatous polyposis coli	597	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAATTTGTCAGCACATTGCAC	0.398		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			False	0	False	5:112170693	0	A	112170693	G	A	112170693	3	1	25	1	0	0	0	0	1	0	0	0	765	971	34	2	1843	2	APC	5	112170693	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	30696294	112170693	68744567	18	2046											
PCDHGA2	0	broad.mit.edu	37	chr5	140719009	140719009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggattcctcttaagaatgcGcatgatgcagacgtaggtga	12	8	1	4	rs151023570		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:140719009G>A	ENST00000394576.2	+	1	471	c.471G>A	c.(469-471)gcG>gcA	p.A157A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAGAATGCGCATGATGCAG	0.498													False	0	False	5:140719009	0	A	140719009	G	A	140719009	2	1	25	1	0	0	0	0	0	0	0	1	11622	1074	38	1		1	PCDHGA2	5	140719009	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	28548316	140719009	40196251	19	2047											
DIAPH1	1729	broad.mit.edu	37	chr5	140963181	140963181	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctccttctggctcatgCcctagacagaaggcatagac	9	13	3	3			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:140963181C>T	ENST00000253811.6	-	5	544	c.404G>A	c.(403-405)gGc>gAc	p.G135D	DIAPH1_ENST00000398566.3_Splice_Site_p.G126D|DIAPH1_ENST00000518047.1_Splice_Site_p.G126D|DIAPH1_ENST00000389054.3_Splice_Site_p.G135D|DIAPH1_ENST00000389057.5_Splice_Site_p.G126D|DIAPH1_ENST00000398562.2_Splice_Site_p.G126D|DIAPH1_ENST00000520569.1_Splice_Site_p.G81D|DIAPH1_ENST00000398557.4_Splice_Site_p.G135D			O60610	DIAP1_HUMAN	diaphanous-related formin 1	135	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCTCATGCCCTAGACAGA	0.423													False	0	True	5:140963181	0	T	140963181	C	T	140963181	5	4	25	1	0	0	0	0	0	0	1	0	4548	753	26	2	3510	2	DIAPH1	5	140963181	Splice_Site	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	244172	140963181	39952079	20	2048											
SLC6A7	6534	broad.mit.edu	37	chr5	149581925	149581925	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtgtggattgaagctGctcttcagatcttctattcc	9	10	4	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr5:149581925G>T	ENST00000230671.2	+	7	1245	c.874G>T	c.(874-876)Gct>Tct	p.A292S	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A292S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	292						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GATTGAAGCTGCTCTTCAGAT	0.537													False	0	False	5:149581925	0	T	149581925	G	T	149581925	3	4	25	1	0	0	0	0	1	0	0	0	14769	1319	46	3	900	3	SLC6A7	5	149581925	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	8618744	149581925	31333335	21	2049											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	25	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-3A-A9IH-01A-12D-A397-08		7393450	163721617	22	2050											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184241	26184241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaacgacatcttcgagcGcatcgccggcgaggcttccc	11	15	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:26184241G>A	ENST00000356530.3	+	1	284	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	73					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						ATCTTCGAGCGCATCGCCGGC	0.597													False	0	False	6:26184241	0	A	26184241	G	A	26184241	3	1	25	1	0	0	0	0	1	0	0	0	7191	1087	38	1	220	1	HIST1H2BE	6	26184241	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	18790791	26184241	144930826	23	2051											
BTN2A1	11120	broad.mit.edu	37	chr6	26458905	26458906	+	In_Frame_Ins	INS	-	-	CTTCCTCCT													cacttctcccggccagcctcINScctcctcctcctcctcctca					rs140375890	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:26458905_26458906insCTTCCTCCT	ENST00000429381.1	+	2	253_254	c.41_42insCTTCCTCCT	c.(40-45)tccctc>tcCTTCCTCCTcctc	p.14_15SL>SFLLL	BTN2A1_ENST00000469185.1_In_Frame_Ins_p.14_15SL>SFLLL|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000312541.5_In_Frame_Ins_p.14_15SL>SFLLL			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	14					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CGGCCAGCCTCCCTCCTCCTCC	0.584													False	0	True	6:26458905	0	CTTCCTCCT	26458906	-	CTTCCTCCT	26458905	7	5	25	1	0	1	1	0	0	0	0	0	1567	855	30	0	43	0	BTN2A1	6	26458905	In_Frame_Ins	INS	-	TCGA-3A-A9IH-01A-12D-A397-08	274664	26458905	144656162	24	2052											
NOTCH4	4855	broad.mit.edu	37	chr6	32171920	32171920	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttggggcctcacctgtgtGtccaggcagacactggcagt	13	12	2	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:32171920G>C	ENST00000375023.3	-	19	3250	c.3112C>G	c.(3112-3114)Cac>Gac	p.H1038D		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1038	EGF-like 26.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCACCTGTGTGTCCAGGCAGA	0.622													False	0	True	6:32171920	0	C	32171920	G	C	32171920	3	2	25	1	0	0	0	0	1	0	0	0	10619	1377	48	5	2947	5	NOTCH4	6	32171920	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	5713015	32171920	138943147	25	2053											
T	6862	broad.mit.edu	37	chr6	166572035	166572035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctgggagcccgggGtgacggcgccgttgctcaca	16	14	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr6:166572035G>A	ENST00000296946.2	-	9	1544	c.1076C>T	c.(1075-1077)aCc>aTc	p.T359I	T_ENST00000366871.3_Missense_Mutation_p.T301I	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	359					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGAGCCCGGGGTGACGGCGCC	0.687									Chordoma, Familial Clustering of				False	0	True	6:166572035	0	A	166572035	G	A	166572035	3	1	25	1	0	0	0	0	1	0	0	0	15570	1261	44	2	235	2	T	6	166572035	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	134400115	166572035	4543032	26	2054											
IGF2BP3	10643	broad.mit.edu	37	chr7	23458413	23458413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcccactgtaaatgaggCgggatatttcgtatctgaag	10	9	1	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:23458413C>T	ENST00000258729.3	-	3	623	c.267G>A	c.(265-267)ccG>ccA	p.P89P	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	89	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GTAAATGAGGCGGGATATTTC	0.313													False	0	True	7:23458413	0	T	23458413	C	T	23458413	2	4	25	1	0	0	0	0	0	0	0	1	7625	755	27	1		1	IGF2BP3	7	23458413	Silent	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		23458413	135680250	27	2055											
PDE1C	5137	broad.mit.edu	37	chr7	31864537	31864537	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttcatcgattaatggactCacaatcttctcggtcatgtc	7	10	5	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:31864537C>A	ENST00000396184.3	-	14	1554	c.1350G>T	c.(1348-1350)gtG>gtT	p.V450V	PDE1C_ENST00000321453.7_Silent_p.V450V|PDE1C_ENST00000396182.2_Silent_p.V450V|PDE1C_ENST00000396193.1_Silent_p.V510V|PDE1C_ENST00000396191.1_Silent_p.V450V	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	450	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTAATGGACTCACAATCTTCT	0.507													False	0	False	7:31864537	0	A	31864537	C	A	31864537	2	1	25	1	0	0	0	0	0	0	0	1	11703	813	29	3		3	PDE1C	7	31864537	Silent	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	8406124	31864537	127274126	28	2056											
GTF2IRD1	9569	broad.mit.edu	37	chr7	74005322	74005322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcccgagagcatgtccGcatggtcatcattaaccagc	11	12	2	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:74005322G>A	ENST00000476977.1	+	24	4258	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.R871H|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R888H|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R856H			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	871						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGCATGTCCGCATGGTCATC	0.612													False	0	False	7:74005322	0	A	74005322	G	A	74005322	3	1	25	1	0	0	0	0	1	0	0	0	6915	1087	38	1	2702	1	GTF2IRD1	7	74005322	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	42140785	74005322	85133341	29	2057											
SPDYE3	441272	broad.mit.edu	37	chr7	99913460	99913460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagatctgagggtgtcAgacaaggtaaggttgttctc	13	6	3	3			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522													False	0	False	7:99913460	0	G	99913460	A	G	99913460	2	3	25	1	0	0	0	0	0	0	0	1	15112	175	7	4		4	SPDYE3	7	99913460	Silent	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	25908138	99913460	59225203	30	2058											
SLC12A9	56996	broad.mit.edu	37	chr7	100463679	100463679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcccctcaacctgctgCggccccggggtgggcccggc	16	17	1	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:100463679C>T	ENST00000354161.3	+	14	2322	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	733						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAACCTGCTGCGGCCCCGGGG	0.711													False	0	False	7:100463679	0	T	100463679	C	T	100463679	3	4	25	1	0	0	0	0	1	0	0	0	14471	759	27	1	2247	1	SLC12A9	7	100463679	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	550219	100463679	58674984	31	2059											
OR2A5	393046	broad.mit.edu	37	chr7	143748124	143748124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcatcctggtggggccGctctgcctggtgctggtctc	15	12	3	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr7:143748124G>A	ENST00000408906.2	+	1	664	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGGTGGGGCCGCTCTGCCTGG	0.597													False	0	False	7:143748124	0	A	143748124	G	A	143748124	2	1	25	1	0	0	0	0	0	0	0	1	11049	1074	38	1		1	OR2A5	7	143748124	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	43284445	143748124	15390539	32	2060											
CSMD1	64478	broad.mit.edu	37	chr8	2857619	2857619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctccactaatgtgaccGttcacaatcgggtctgggga	10	12	3	1	rs141445155	by1000genomes	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:2857619G>A	ENST00000520002.1	-	54	8622	c.8067C>T	c.(8065-8067)aaC>aaT	p.N2689N	CSMD1_ENST00000537824.1_Silent_p.N2688N|CSMD1_ENST00000400186.3_Silent_p.N2631N|CSMD1_ENST00000602723.1_Silent_p.N2631N|CSMD1_ENST00000602557.1_Silent_p.N2689N|CSMD1_ENST00000542608.1_Silent_p.N2630N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2689	Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAATGTGACCGTTCACAATCG	0.443													False	0	False	8:2857619	0	A	2857619	G	A	2857619	2	1	25	1	0	0	0	0	0	0	0	1	3969	1136	40	1		1	CSMD1	8	2857619	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08		2857619	143506403	33	2061											
ST18	9705	broad.mit.edu	37	chr8	53045690	53045690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccttgcacgagggcatcCggacaagctgaaatagggac	12	10	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:53045690C>T	ENST00000276480.7	-	21	3054	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	791						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CGAGGGCATCCGGACAAGCTG	0.463													False	0	False	8:53045690	0	T	53045690	C	T	53045690	3	4	25	1	0	0	0	0	1	0	0	0	15294	661	23	1	796	1	ST18	8	53045690	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	50188071	53045690	93318332	34	2062											
KCNB2	9312	broad.mit.edu	37	chr8	73848252	73848252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccggagctgcaggaaaCggacgaatttggacaactca	13	10	1	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:73848252C>T	ENST00000523207.1	+	3	1250	c.662C>T	c.(661-663)aCg>aTg	p.T221M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	221					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGCAGGAAACGGACGAATTT	0.473													False	0	True	8:73848252	0	T	73848252	C	T	73848252	3	4	25	1	0	0	0	0	1	0	0	0	8063	536	19	1	668	1	KCNB2	8	73848252	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	20802562	73848252	72515770	35	2063											
CDH17	1015	broad.mit.edu	37	chr8	95178163	95178163	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaactgttggcagtattttCttcatccctgtcatgtgcag	8	9	3	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:95178163C>T	ENST00000027335.3	-	10	1232	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	CDH17_ENST00000441892.2_Missense_Mutation_p.E156K|CDH17_ENST00000450165.2_Missense_Mutation_p.E370K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	370	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCAGTATTTTCTTCATCCCTG	0.418													False	0	True	8:95178163	0	T	95178163	C	T	95178163	3	4	25	1	0	0	0	0	1	0	0	0	3125	922	32	2	1426	2	CDH17	8	95178163	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	21329911	95178163	51185859	36	2064											
PARP10	84875	broad.mit.edu	37	chr8	145059772	145059798	+	In_Frame_Del	DEL	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-													ggccagggacaccaaggtccCctccaggcccagattctggg					rs146902781	byFrequency	TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	-	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr8:145059772_145059798delCCTCCAGGCCCAGATTCTGGGCCTGCT	ENST00000524918.1	-	4	541_567	c.455_481delAGCAGGCCCAGAATCTGGGCCTGGAGG	c.(454-483)gagcaggcccagaatctgggcctggagggg>ggg	p.EQAQNLGLE152del	PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_In_Frame_Del_p.EQAQNLGLE164del|PARP10_ENST00000313028.7_In_Frame_Del_p.EQAQNLGLE152del			Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	152						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAAGGTCCCCTCCAGGCCCAGATTCTGGGCCTGCTCCTCCAGGAC	0.648													False	1	False	8:145059772	0	-	145059798	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	145059772	7	5	25	1	0	1	0	1	0	0	0	0	11523	623	22	0	2628	0	PARP10	8	145059772	In_Frame_Del	DEL	CCTCCAGGCCCAGATTCTGGGCCTGCT	TCGA-3A-A9IH-01A-12D-A397-08	49881609	145059772	1304250	37	2065											
AQP7	364	broad.mit.edu	37	chr9	33386077	33386077	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatcctcgaccactgacctCattcaggaagccccgccaca	6	18	3	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:33386077C>T	ENST00000537089.1	-	5	565	c.247G>A	c.(247-249)Gag>Aag	p.E83K	AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K			O14520	AQP7_HUMAN	aquaporin 7	175					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACTGACCTCATTCAGGAAG	0.592													False	0	False	9:33386077	0	T	33386077	C	T	33386077	3	4	25	1	0	0	0	0	1	0	0	0	833	835	29	2	517	2	AQP7	9	33386077	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		33386077	107827354	38	2066											
OR13F1	138805	broad.mit.edu	37	chr9	107267379	107267379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttatggctttggtgtatgCcggacaaacccccatgttga	10	9	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:107267379C>T	ENST00000334726.2	+	1	925	c.836C>T	c.(835-837)gCc>gTc	p.A279V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTGGTGTATGCCGGACAAACC	0.418													False	0	False	9:107267379	0	T	107267379	C	T	107267379	3	4	25	1	0	0	0	0	1	0	0	0	11009	739	26	2	838	2	OR13F1	9	107267379	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	73881302	107267379	33946052	39	2067											
GOLGA1	2800	broad.mit.edu	37	chr9	127651788	127651788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcagattctgttccttctCgtctattatggctgtcaggt	9	11	4	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr9:127651788C>T	ENST00000373555.4	-	17	1858	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	509	Gln-rich.					Golgi cisterna membrane		p.E509K(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGTTCCTTCTCGTCTATTATG	0.512													False	0	False	9:127651788	0	T	127651788	C	T	127651788	3	4	25	1	0	0	0	0	1	0	0	0	6596	893	31	1	806	1	GOLGA1	9	127651788	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	20384409	127651788	13561643	40	2068											
SFXN3	81855	broad.mit.edu	37	chr10	102795364	102795364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtggtcctgattggccGcatgtcagcccaggtgccca	14	12	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr10:102795364G>A	ENST00000393459.1	+	4	745	c.272G>A	c.(271-273)cGc>cAc	p.R91H	SFXN3_ENST00000224807.5_Missense_Mutation_p.R95H			Q9BWM7	SFXN3_HUMAN	sideroflexin 3	95					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	p.R95H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CTGATTGGCCGCATGTCAGCC	0.587													False	0	False	10:102795364	0	A	102795364	G	A	102795364	3	1	25	1	0	0	0	0	1	0	0	0	14277	1087	38	1	294	1	SFXN3	10	102795364	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08		102795364	32739383	41	2069											
LRRC27	80313	broad.mit.edu	37	chr10	134155718	134155718	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttgttttgctttaaaggCatttgaaaactttgctttta	7	4	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr10:134155718C>T	ENST00000392638.2	+	4	538	c.343C>T	c.(343-345)Cat>Tat	p.H115Y	LRRC27_ENST00000368613.4_Splice_Site_p.H115Y|LRRC27_ENST00000368610.3_Splice_Site_p.H53Y|LRRC27_ENST00000344079.5_Splice_Site_p.H115Y|LRRC27_ENST00000432555.2_5'UTR|LRRC27_ENST00000368615.3_Splice_Site_p.H115Y|LRRC27_ENST00000368612.1_Splice_Site_p.H53Y|LRRC27_ENST00000368614.3_Splice_Site_p.H115Y|LRRC27_ENST00000356571.4_Intron			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	115										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCTTTAAAGGCATTTGAAAAC	0.264													False	0	False	10:134155718	0	T	134155718	C	T	134155718	5	4	25	1	0	0	0	0	0	0	1	0	9043	724	25	2	353	2	LRRC27	10	134155718	Splice_Site	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	31360354	134155718	1379029	42	2070											
OR52A4	0	broad.mit.edu	37	chr11	5142557	5142557	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaccaaaaaatatcaagcatCttgggcacaatgctggtgct	8	9	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:5142557C>A	ENST00000498233.1	-	0	841																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TATCAAGCATCTTGGGCACAA	0.438													False	0	False	11:5142557	0	A	5142557	C	A	5142557	1	1	25	0	1	0	0	0	0	0	0	0	11177	912	32	3		3	OR52A4	11	5142557	RNA	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		5142557	129863959	43	2071											
ABCC8	6833	broad.mit.edu	37	chr11	17415843	17415843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatggaagccgtggcctcGtccatgatgaagatgctggt	13	9	1	3			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:17415843G>A	ENST00000302539.4	-	37	4643	c.4518C>T	c.(4516-4518)gaC>gaT	p.D1506D	ABCC8_ENST00000389817.3_Silent_p.D1505D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1505	ABC transporter 2.		E -> K (in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP).		carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCGTGGCCTCGTCCATGATGA	0.577													False	0	False	11:17415843	0	A	17415843	G	A	17415843	2	1	25	1	0	0	0	0	0	0	0	1	58	1136	40	1		1	ABCC8	11	17415843	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	12273286	17415843	117590673	44	2072											
XRRA1	143570	broad.mit.edu	37	chr11	74559225	74559225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgctctgggctgaggcGgacagttgtgtcactcaggt	17	9	3	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:74559225G>A	ENST00000340360.6	-	15	1970	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	XRRA1_ENST00000527087.1_Missense_Mutation_p.R460C|XRRA1_ENST00000321448.8_Missense_Mutation_p.R272C	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	547					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGGCTGAGGCGGACAGTTGTG	0.592													False	0	False	11:74559225	0	A	74559225	G	A	74559225	3	1	25	1	0	0	0	0	1	0	0	0	17545	1116	39	1	759	1	XRRA1	11	74559225	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	57143382	74559225	60447291	45	2073											
FAT3	120114	broad.mit.edu	37	chr11	92538476	92538476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccatggtggaagtgagCgtcagtgatgtgaatgacaa	15	6	1	4			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr11:92538476C>T	ENST00000298047.6	+	10	9071	c.9054C>T	c.(9052-9054)agC>agT	p.S3018S	FAT3_ENST00000525166.1_Silent_p.S2868S|FAT3_ENST00000409404.2_Silent_p.S3018S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3018	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAAGTGAGCGTCAGTGATG	0.438										TCGA Ovarian(4;0.039)			False	0	False	11:92538476	0	T	92538476	C	T	92538476	2	4	25	1	0	0	0	0	0	0	0	1	5731	767	27	1		1	FAT3	11	92538476	Silent	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	17979251	92538476	42468040	46	2074											
STYK1	55359	broad.mit.edu	37	chr12	10772786	10772786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggctctccactctgatgCcggccacagctgcatacagt	10	14	2	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:10772786C>T	ENST00000075503.3	-	11	1746	c.1226G>A	c.(1225-1227)gGc>gAc	p.G409D		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	409						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CACTCTGATGCCGGCCACAGC	0.478										HNSCC(73;0.22)			False	0	False	12:10772786	0	T	10772786	C	T	10772786	3	4	25	1	0	0	0	0	1	0	0	0	15441	739	26	2	46	2	STYK1	12	10772786	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		10772786	123079109	47	2075											
PRB3	5544	broad.mit.edu	37	chr12	11420551	11420551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccttgggactggtttcctCcttgtgggggtggtccttct	14	10	1	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:11420551C>T	ENST00000279573.7	-	3	767	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PRB3_ENST00000538488.1_Missense_Mutation_p.G190E|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3		10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.627													False	0	False	12:11420551	0	T	11420551	C	T	11420551	3	4	25	1	0	0	0	0	1	0	0	0	12520	855	30	2	305	2	PRB3	12	11420551	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	647765	11420551	122431344	48	2076											
ABCC9	10060	broad.mit.edu	37	chr12	22063212	22063212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccatggataagttagacGtagagagcctaaggatttta	10	8	0	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:22063212G>A	ENST00000261200.4	-	8	1198	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	ABCC9_ENST00000261201.4_Missense_Mutation_p.T400M|ABCC9_ENST00000345162.2_Missense_Mutation_p.T400M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	400	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAGTTAGACGTAGAGAGCCT	0.348													False	0	False	12:22063212	0	A	22063212	G	A	22063212	3	1	25	1	0	0	0	0	1	0	0	0	59	1145	40	1	3716	1	ABCC9	12	22063212	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	10642661	22063212	111788683	49	2077											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	25	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	3335073	25398285	108453610	50	2078											
RACGAP1	29127	broad.mit.edu	37	chr12	50410450	50410450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgagaatctccacccggcGcacaagctgctcaaacagat	8	14	2	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:50410450G>A	ENST00000434422.1	-	3	350	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	RACGAP1_ENST00000454520.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R17C			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	17					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TCCACCCGGCGCACAAGCTGC	0.438													False	0	False	12:50410450	0	A	50410450	G	A	50410450	3	1	25	1	0	0	0	0	1	0	0	0	13056	1087	38	1	1913	1	RACGAP1	12	50410450	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	25012165	50410450	83441445	51	2079											
SRGAP1	57522	broad.mit.edu	37	chr12	64377799	64377799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgagttcagcttctccAggatctgcaagatttcttcc	9	11	4	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:64377799A>G	ENST00000355086.3	+	2	664	c.140A>G	c.(139-141)cAg>cGg	p.Q47R	SRGAP1_ENST00000357825.3_Missense_Mutation_p.Q47R|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Q7R	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	47	FCH.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGCTTCTCCAGGATCTGCAA	0.433													False	0	False	12:64377799	0	G	64377799	A	G	64377799	3	3	25	1	0	0	0	0	1	0	0	0	15227	188	7	4	146	4	SRGAP1	12	64377799	Missense_Mutation	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	13967349	64377799	69474096	52	2080											
SYT1	6857	broad.mit.edu	37	chr12	79679566	79679566	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgtgtgtttctttcaGtgccaccgtgggccttaatt	9	11	3	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr12:79679566G>A	ENST00000261205.4	+	5	823		c.e5-1		SYT1_ENST00000393240.3_Splice_Site|SYT1_ENST00000552744.1_Splice_Site|SYT1_ENST00000457153.2_Splice_Site	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I						detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GTTTCTTTCAGTGCCACCGTG	0.368													False	0	False	12:79679566	0	A	79679566	G	A	79679566	5	1	25	1	0	0	0	0	0	0	1	0	15547	1043	36	2	172	2	SYT1	12	79679566	Splice_Site	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	15301767	79679566	54172329	53	2081											
FRY	10129	broad.mit.edu	37	chr13	32759255	32759255	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgggcacattttagtgcaAtggtggccaacttgattcag	11	9	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr13:32759255A>G	ENST00000380250.3	+	26	3785	c.3289A>G	c.(3289-3291)Atg>Gtg	p.M1097V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1097					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTTTAGTGCAATGGTGGCCAA	0.413													False	0	False	13:32759255	0	G	32759255	A	G	32759255	3	3	25	1	0	0	0	0	1	0	0	0	6105	101	4	4	3391	4	FRY	13	32759255	Missense_Mutation	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08		32759255	82410623	54	2082											
TUBGCP3	10426	broad.mit.edu	37	chr13	113140311	113140311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggaccgcgagcttcacGtgtgggagctgcgccgcccc	17	14	1	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr13:113140311G>A	ENST00000261965.3	-	22	2906	c.2720C>T	c.(2719-2721)aCg>aTg	p.T907M		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	907					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CGAGCTTCACGTGTGGGAGCT	0.597													False	0	False	13:113140311	0	A	113140311	G	A	113140311	3	1	25	1	0	0	0	0	1	0	0	0	16851	1145	40	1	7	1	TUBGCP3	13	113140311	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	80381056	113140311	2029567	55	2083											
DHRS4	10901	broad.mit.edu	37	chr14	24429144	24429144	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggaggtatcgatatcctaGtctccaatgctgctgtcaac	9	10	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr14:24429144G>C	ENST00000313250.5	+	3	543	c.340G>C	c.(340-342)Gtc>Ctc	p.V114L	DHRS4_ENST00000382761.3_Missense_Mutation_p.V96L|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000558581.1_Intron|DHRS4_ENST00000421831.1_Intron|DHRS4_ENST00000558263.1_Missense_Mutation_p.V114L|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000543741.2_Missense_Mutation_p.V114L|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000397075.3_Missense_Mutation_p.V114L	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	114						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CGATATCCTAGTCTCCAATGC	0.522													False	0	False	14:24429144	0	C	24429144	G	C	24429144	3	2	25	1	0	0	0	0	1	0	0	0	4522	1029	36	5	350	5	DHRS4	14	24429144	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08		24429144	82920396	56	2084											
GABRB3	2562	broad.mit.edu	37	chr15	26866539	26866539	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcactccatgcacaaatgacTttttgtcatttaagaaatat	4	8	2	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:26866539T>A	ENST00000541819.2	-	5	653	c.551A>T	c.(550-552)aAg>aTg	p.K184M	GABRB3_ENST00000299267.4_Missense_Mutation_p.K128M|GABRB3_ENST00000545868.1_Missense_Mutation_p.K43M|GABRB3_ENST00000311550.5_Missense_Mutation_p.K128M|GABRB3_ENST00000400188.3_Missense_Mutation_p.K57M			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	128					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CACAAATGACTTTTTGTCATT	0.502													False	0	True	15:26866539	0	A	26866539	T	A	26866539	3	1	25	1	0	0	0	0	1	0	0	0	6210	1609	56	5	1062	5	GABRB3	15	26866539	Missense_Mutation	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08		26866539	75664853	57	2085											
PPIP5K1	9677	broad.mit.edu	37	chr15	43851071	43851071	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actcacttgacgtagggaaaGggcattatgcagtgtttcca	11	8	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:43851071G>C	ENST00000420765.1	-	29	3489	c.3307C>G	c.(3307-3309)Ctt>Gtt	p.L1103V	PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L1079V|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.L1103V|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L1099V|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L1036V	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1103					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						CGTAGGGAAAGGGCATTATGC	0.478													False	0	True	15:43851071	0	C	43851071	G	C	43851071	3	2	25	1	0	0	0	0	1	0	0	0	12406	1000	35	5	1130	5	PPIP5K1	15	43851071	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	16984532	43851071	58680321	58	2086											
ZNF280D	54816	broad.mit.edu	37	chr15	56958635	56958635	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctacagctagtgttgTatctgcaaaaactacagtgg	9	8	1	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:56958635T>C	ENST00000559237.1	-	15	2596	c.1913A>G	c.(1912-1914)tAc>tGc	p.Y638C	ZNF280D_ENST00000396245.1_Missense_Mutation_p.Y355C|ZNF280D_ENST00000267807.7_Missense_Mutation_p.Y651C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y638C	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GCTAGTGTTGTATCTGCAAAA	0.358													False	0	False	15:56958635	0	C	56958635	T	C	56958635	3	2	25	1	0	0	0	0	1	0	0	0	17900	1638	57	4	1015	4	ZNF280D	15	56958635	Missense_Mutation	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08	13107564	56958635	45572757	59	2087											
HERC1	8925	broad.mit.edu	37	chr15	63908760	63908760	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcacagctgcttccacaCcagaggggccaagtggaggt	13	12	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:63908760C>A	ENST00000443617.2	-	75	13897	c.13810G>T	c.(13810-13812)Gtg>Ttg	p.V4604L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4604	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGCTTCCACACCAGAGGGGCC	0.502													False	0	False	15:63908760	0	A	63908760	C	A	63908760	3	1	25	1	0	0	0	0	1	0	0	0	7104	507	18	3	791	3	HERC1	15	63908760	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	6950125	63908760	38622632	60	2088											
IDH2	3418	broad.mit.edu	37	chr15	90630770	90630770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggccatttcttctggatgGcatactggaagcagctgtgc	13	10	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr15:90630770G>A	ENST00000330062.3	-	6	829	c.716C>T	c.(715-717)gCc>gTc	p.A239V	IDH2_ENST00000539790.1_Missense_Mutation_p.A109V|IDH2_ENST00000540499.2_Missense_Mutation_p.A187V|IDH2_ENST00000559482.1_Missense_Mutation_p.A130V	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	239					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CTTCTGGATGGCATACTGGAA	0.562			M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	15:90630770	0	A	90630770	G	A	90630770	3	1	25	1	0	0	0	0	1	0	0	0	7545	1203	42	2	666	2	IDH2	15	90630770	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	26722010	90630770	11900622	61	2089											
UMOD	7369	broad.mit.edu	37	chr16	20357449	20357449	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactggccaggacgtaccGtcaacactgtcccacagggg	11	16	1	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:20357449G>A	ENST00000396134.2	-	6	1403	c.1280C>T	c.(1279-1281)aCg>aTg	p.T427M	UMOD_ENST00000396142.2_Splice_Site_p.T394M|UMOD_ENST00000396138.4_Splice_Site_p.T443M|UMOD_ENST00000570689.1_Splice_Site_p.T394M|UMOD_ENST00000302509.4_Splice_Site_p.T394M|UMOD_ENST00000424589.1_Splice_Site_p.T427M	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	394	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.T394M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGACGTACCGTCAACACTGT	0.567													False	0	False	16:20357449	0	A	20357449	G	A	20357449	5	1	25	1	0	0	0	0	0	0	1	0	17063	1159	40	1	769	1	UMOD	16	20357449	Splice_Site	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08		20357449	69997304	62	2090											
POLR3E	55718	broad.mit.edu	37	chr16	22330215	22330215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgattccgtggctgttctgCggggcatccagaaggtggcg	16	10	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:22330215C>T	ENST00000299853.5	+	13	1101	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	POLR3E_ENST00000418581.2_Missense_Mutation_p.R276W|POLR3E_ENST00000359210.4_Missense_Mutation_p.R312W|POLR3E_ENST00000564209.1_Missense_Mutation_p.R312W	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	312					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GGCTGTTCTGCGGGGCATCCA	0.478													False	0	True	16:22330215	0	T	22330215	C	T	22330215	3	4	25	1	0	0	0	0	1	0	0	0	12301	759	27	1	980	1	POLR3E	16	22330215	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	1972766	22330215	68024538	63	2091											
ZNF423	23090	broad.mit.edu	37	chr16	49672109	49672109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttgtgtttctggttggcGtgggcttggtggatatgggc	17	6	1	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:49672109G>A	ENST00000561648.1	-	4	1007	c.954C>T	c.(952-954)caC>caT	p.H318H	ZNF423_ENST00000562520.1_Silent_p.H258H|ZNF423_ENST00000563137.2_Silent_p.H258H|ZNF423_ENST00000262383.2_Silent_p.H318H|ZNF423_ENST00000562871.1_Silent_p.H258H|ZNF423_ENST00000535559.1_Silent_p.H201H|ZNF423_ENST00000567169.1_Silent_p.H201H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	318					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCTGGTTGGCGTGGGCTTGGT	0.617													False	0	False	16:49672109	0	A	49672109	G	A	49672109	2	1	25	1	0	0	0	0	0	0	0	1	17981	1136	40	1		1	ZNF423	16	49672109	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	27341894	49672109	40682644	64	2092											
KCTD19	146212	broad.mit.edu	37	chr16	67333434	67333434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctgtgcgggcccccTtcccggggctcaggggagaa	18	13	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:67333434T>C	ENST00000304372.5	-	6	873	c.818A>G	c.(817-819)aAg>aGg	p.K273R	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	273						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCGGGCCCCCTTCCCGGGGCT	0.642													False	0	True	16:67333434	0	C	67333434	T	C	67333434	3	2	25	1	0	0	0	0	1	0	0	0	8156	1609	56	4	2006	4	KCTD19	16	67333434	Missense_Mutation	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08	17661325	67333434	23021319	65	2093											
LRRC36	55282	broad.mit.edu	37	chr16	67397524	67397524	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggactttttattcccttcccCaaccgggaaataaaggattc	7	11	0	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:67397524C>G	ENST00000329956.6	+	6	628	c.609C>G	c.(607-609)ccC>ccG	p.P203P	LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Silent_p.P82P|LRRC36_ENST00000435835.3_Silent_p.P82P	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	203										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTCCCTTCCCCAACCGGGAAA	0.428													False	0	True	16:67397524	0	G	67397524	C	G	67397524	2	3	25	1	0	0	0	0	0	0	0	1	9052	581	21	5		5	LRRC36	16	67397524	Silent	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	64090	67397524	22957229	66	2094											
HYDIN	54768	broad.mit.edu	37	chr16	70902514	70902514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcatgtttctgggtaCgtccacccacttgactgtgt	10	13	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:70902514C>T	ENST00000393567.2	-	66	11419	c.11269G>A	c.(11269-11271)Gta>Ata	p.V3757I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3757										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTGGGTACGTCCACCCAC	0.527													False	0	False	16:70902514	0	T	70902514	C	T	70902514	3	4	25	1	0	0	0	0	1	0	0	0	7517	536	19	1	4180	1	HYDIN	16	70902514	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	3504990	70902514	19452239	67	2095											
SLC38A8	146167	broad.mit.edu	37	chr16	84056458	84056458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggagaggctccgtttgcGcatgctgcagtagatggaga	17	7	0	3			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:84056458G>A	ENST00000299709.3	-	6	726	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	243					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCGTTTGCGCATGCTGCAG	0.597													False	0	False	16:84056458	0	A	84056458	G	A	84056458	3	1	25	1	0	0	0	0	1	0	0	0	14690	1087	38	1	600	1	SLC38A8	16	84056458	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	13153944	84056458	6298295	68	2096											
ATP2C2	9914	broad.mit.edu	37	chr16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtgttgccaacaatgCggtcatcagaaagaacgccg	13	10	2	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr16:84476138C>T	ENST00000416219.2	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552													False	0	False	16:84476138	0	T	84476138	C	T	84476138	3	4	25	1	0	0	0	0	1	0	0	0	1148	768	27	1	1392	1	ATP2C2	16	84476138	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	419680	84476138	5878615	69	2097											
TP53	7157	broad.mit.edu	37	chr17	7578502	7578502	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggaatcaacccacagctgcAcagggcaggtcttggccagt	12	12	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:7578502A>T	ENST00000420246.2	-	5	560	c.428T>A	c.(427-429)gTg>gAg	p.V143E	TP53_ENST00000413465.2_Missense_Mutation_p.V143E|TP53_ENST00000269305.4_Missense_Mutation_p.V143E|TP53_ENST00000445888.2_Missense_Mutation_p.V143E|TP53_ENST00000359597.4_Missense_Mutation_p.V143E|TP53_ENST00000455263.2_Missense_Mutation_p.V143E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCACAGCTGCACAGGGCAGGT	0.587		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)			False	0	False	17:7578502	0	T	7578502	A	T	7578502	3	4	25	1	0	0	0	0	1	0	0	0	16464	159	6	5	870	5	TP53	17	7578502	Missense_Mutation	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08		7578502	73616708	70	2098											
MYH1	4619	broad.mit.edu	37	chr17	10398336	10398336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgcaggtccttcaccGtctgttccaggttcttcttc	9	13	4	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:10398336G>A	ENST00000226207.5	-	37	5472	c.5378C>T	c.(5377-5379)aCg>aTg	p.T1793M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1793						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTCCTTCACCGTCTGTTCCAG	0.557													False	0	False	17:10398336	0	A	10398336	G	A	10398336	3	1	25	1	0	0	0	0	1	0	0	0	10096	1145	40	1	457	1	MYH1	17	10398336	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	2819834	10398336	70796874	71	2099											
GAS2L2	246176	broad.mit.edu	37	chr17	34074090	34074090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctccccgttccctgcGgggtctgggggaggatgggg	18	13	1	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:34074090G>A	ENST00000254466.6	-	5	1057	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R328C	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	344					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGTTCCCTGCGGGGTCTGGGG	0.627													False	0	True	17:34074090	0	A	34074090	G	A	34074090	3	1	25	1	0	0	0	0	1	0	0	0	6290	1116	39	1	1620	1	GAS2L2	17	34074090	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	23675754	34074090	47121120	72	2100											
TADA2A	6871	broad.mit.edu	37	chr17	35830625	35830625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagcagtggctccgccgGcaagctgacatgtgagtaat	13	11	0	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:35830625G>A	ENST00000394395.2	+	13	1190	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	TADA2A_ENST00000225396.6_Silent_p.R339R|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	339					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GGCTCCGCCGGCAAGCTGACA	0.507													False	0	False	17:35830625	0	A	35830625	G	A	35830625	2	1	25	1	0	0	0	0	0	0	0	1	15592	1190	42	2		2	TADA2A	17	35830625	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	1756535	35830625	45364585	73	2101											
FBXO47	494188	broad.mit.edu	37	chr17	37099973	37099973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggttcttctatcatttcCtgccaaaccacctgtcctga	6	13	3	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:37099973C>T	ENST00000378079.2	-	8	1009	c.810G>A	c.(808-810)caG>caA	p.Q270Q		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	270										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CTATCATTTCCTGCCAAACCA	0.388													False	0	False	17:37099973	0	T	37099973	C	T	37099973	2	4	25	1	0	0	0	0	0	0	0	1	5796	680	24	2		2	FBXO47	17	37099973	Silent	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	1269348	37099973	44095237	74	2102											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917431	48917431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcggcccaaccatgtgcGtggcaacgtggtggtcacca	13	13	1	0	rs146708003		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr17:48917431G>A	ENST00000311378.4	+	2	1310	c.782G>A	c.(781-783)cGt>cAt	p.R261H	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R168H	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	261	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AACCATGTGCGTGGCAACGTG	0.617													False	0	False	17:48917431	0	A	48917431	G	A	48917431	3	1	25	1	0	0	0	0	1	0	0	0	17443	1145	40	1	788	1	WFIKKN2	17	48917431	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	11817458	48917431	32277779	75	2103											
MIB1	57534	broad.mit.edu	37	chr18	19429284	19429284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggacatattgctacctgtTctttatgttctccacgtgtc	8	10	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:19429284T>C	ENST00000261537.6	+	17	2785	c.2521T>C	c.(2521-2523)Tct>Cct	p.S841P	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	841					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGCTACCTGTTCTTTATGTTC	0.343													False	0	False	18:19429284	0	C	19429284	T	C	19429284	3	2	25	1	0	0	0	0	1	0	0	0	9633	1783	62	4	2587	4	MIB1	18	19429284	Missense_Mutation	SNP	T	TCGA-3A-A9IH-01A-12D-A397-08		19429284	58647964	76	2104											
SMAD4	4089	broad.mit.edu	37	chr18	48575093	48575093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttcctcatgtgatctatgCccgtctctggaggtggcctg	11	11	3	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:48575093C>A	ENST00000342988.3	+	3	825	c.287C>A	c.(286-288)gCc>gAc	p.A96D	SMAD4_ENST00000398417.2_Missense_Mutation_p.A96D|SMAD4_ENST00000588745.1_Missense_Mutation_p.A96D|SMAD4_ENST00000452201.2_Missense_Mutation_p.A96D|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	96	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTGATCTATGCCCGTCTCTGG	0.368													False	0	True	18:48575093	0	A	48575093	C	A	48575093	3	1	25	1	0	0	0	0	1	0	0	0	14840	739	26	3	293	3	SMAD4	18	48575093	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	29145809	48575093	29502155	77	2105											
DCC	1630	broad.mit.edu	37	chr18	50450207	50450207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttttacctggttacgaggCgaggaagtcatccaactcag	11	9	2	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr18:50450207C>T	ENST00000442544.2	+	4	1444	c.828C>T	c.(826-828)ggC>ggT	p.G276G	DCC_ENST00000412726.1_Silent_p.G124G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	276	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTTACGAGGCGAGGAAGTCA	0.373													False	0	True	18:50450207	0	T	50450207	C	T	50450207	2	4	25	1	0	0	0	0	0	0	0	1	4307	755	27	1		1	DCC	18	50450207	Silent	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	1875114	50450207	27627041	78	2106											
LIN37	55957	broad.mit.edu	37	chr19	36244964	36244964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgatgtgtacaagctgcCgccacccacacccccggggc	11	17	0	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:36244964C>T	ENST00000301159.9	+	7	855	c.491C>T	c.(490-492)cCg>cTg	p.P164L	AC002398.9_ENST00000591613.2_3'UTR	NM_019104.2	NP_061977	Q96GY3	LIN37_HUMAN	lin-37 homolog (C. elegans)	164	Pro-rich.						protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACAAGCTGCCGCCACCCACA	0.632													False	0	False	19:36244964	0	T	36244964	C	T	36244964	3	4	25	1	0	0	0	0	1	0	0	0	8860	652	23	1	517	1	LIN37	19	36244964	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		36244964	22884019	79	2107											
ZNF569	148266	broad.mit.edu	37	chr19	37905084	37905084	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgctcctttctcataAggcatttcacattattatga	4	10	2	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:37905084A>T	ENST00000316950.6	-	6	1033	c.476T>A	c.(475-477)cTt>cAt	p.L159H	ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.L159H	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTTCTCATAAGGCATTTCAC	0.333													False	0	False	19:37905084	0	T	37905084	A	T	37905084	3	4	25	1	0	0	0	0	1	0	0	0	18083	72	3	5	1588	5	ZNF569	19	37905084	Missense_Mutation	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	1660120	37905084	21223899	80	2108											
ZNF175	7728	broad.mit.edu	37	chr19	52091537	52091537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttgactgtgggaaatcGttcagtaagaaaccacaact	9	9	1	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:52091537G>A	ENST00000262259.2	+	5	2311	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	651					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGGAAATCGTTCAGTAAGA	0.438													False	0	False	19:52091537	0	A	52091537	G	A	52091537	2	1	25	1	0	0	0	0	0	0	0	1	17828	1132	40	1		1	ZNF175	19	52091537	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	14186453	52091537	7037446	81	2109											
PEG3	5178	broad.mit.edu	37	chr19	57328017	57328017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgctcacgttcacgttcaCgttcatgttcacgctcatta	7	14	6	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:57328017C>T	ENST00000326441.9	-	10	2156	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R474H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	598					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R598H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ttcacgttcacgttcatgttc	0.458													False	0	True	19:57328017	0	T	57328017	C	T	57328017	3	4	25	1	0	0	0	0	1	0	0	0	11788	536	19	1	2977	1	PEG3	19	57328017	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	5236480	57328017	1800966	82	2110											
ZNF551	90233	broad.mit.edu	37	chr19	58199361	58199361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttttagccaaagtgctaGcctcattcaacaccagagag	8	11	3	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr19:58199361G>T	ENST00000282296.5	+	3	1903	c.1718G>T	c.(1717-1719)aGc>aTc	p.S573I	ZNF551_ENST00000356715.4_Missense_Mutation_p.S557I|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAAAGTGCTAGCCTCATTCAA	0.458													False	0	False	19:58199361	0	T	58199361	G	T	58199361	3	4	25	1	0	0	0	0	1	0	0	0	18066	971	34	3	1680	3	ZNF551	19	58199361	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	871344	58199361	929622	83	2111											
PAX1	5075	broad.mit.edu	37	chr20	21687488	21687488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctggcgcagcccggaccGtacgaggcaagtaagcagcc	14	14	0	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:21687488G>A	ENST00000398485.2	+	2	753	c.699G>A	c.(697-699)ccG>ccA	p.P233P	PAX1_ENST00000444366.2_Silent_p.P209P|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	233					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGCCCGGACCGTACGAGGCAA	0.642													False	0	False	20:21687488	0	A	21687488	G	A	21687488	2	1	25	1	0	0	0	0	0	0	0	1	11546	1132	40	1		1	PAX1	20	21687488	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08		21687488	41338032	84	2112											
BCAS1	8537	broad.mit.edu	37	chr20	52570062	52570062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgagttcgtgtccaccGtggcctgctctgtgcactgg	14	12	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr20:52570062G>A	ENST00000395961.3	-	11	1755	c.1589C>T	c.(1588-1590)aCg>aTg	p.T530M	BCAS1_ENST00000371440.3_Missense_Mutation_p.T539M|BCAS1_ENST00000371435.2_Missense_Mutation_p.T452M|BCAS1_ENST00000434986.2_Missense_Mutation_p.T196M	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	530						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CGTGTCCACCGTGGCCTGCTC	0.562													False	0	False	20:52570062	0	A	52570062	G	A	52570062	3	1	25	1	0	0	0	0	1	0	0	0	1354	1145	40	1	173	1	BCAS1	20	52570062	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	30882574	52570062	10455458	85	2113											
CABIN1	23523	broad.mit.edu	37	chr22	24447387	24447387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggcaagcgctgattgtgCgggagaaggagccggacctg	18	8	0	3			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:24447387C>T	ENST00000398319.2	+	8	1142	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	CABIN1_ENST00000263119.5_Missense_Mutation_p.R253W|CABIN1_ENST00000405822.2_Intron	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	253					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTGATTGTGCGGGAGAAGGA	0.552													False	0	True	22:24447387	0	T	24447387	C	T	24447387	3	4	25	1	0	0	0	0	1	0	0	0	2548	759	27	1	783	1	CABIN1	22	24447387	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		24447387	26857179	86	2114											
MYO18B	84700	broad.mit.edu	37	chr22	26173732	26173732	+	Silent	SNP	G	G	A													gtggggatggcaggcagtgtGgatggcagggtctcaggtat							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:26173732G>A	ENST00000335473.7	+	8	2302	c.2052G>A	c.(2050-2052)gtG>gtA	p.V684V	MYO18B_ENST00000536101.1_Silent_p.V684V|MYO18B_ENST00000407587.2_Silent_p.V684V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	684	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGCAGTGTGGATGGCAGGG	0.592													False	0	False	22:26173732	0	A	26173732	G	A	26173732	2	1	25	1	0	0	0	0	0	0	0	1	10133	1335	47	2		2	MYO18B	22	26173732	Silent	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	1726345	26173732	25130834	87	2115	19	2									
MYO18B	84700	broad.mit.edu	37	chr22	26173733	26173733	+	Missense_Mutation	SNP	G	G	C													tggggatggcaggcagtgtgGatggcagggtctcaggtatg							TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chr22:26173733G>C	ENST00000335473.7	+	8	2303	c.2053G>C	c.(2053-2055)Gat>Cat	p.D685H	MYO18B_ENST00000536101.1_Missense_Mutation_p.D685H|MYO18B_ENST00000407587.2_Missense_Mutation_p.D685H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	685	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGCAGTGTGGATGGCAGGGT	0.587													False	0	False	22:26173733	0	C	26173733	G	C	26173733	3	2	25	1	0	0	0	0	1	0	0	0	10133	1174	41	5	2079	5	MYO18B	22	26173733	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	1	26173733	25130833	88	2116	19	2									
BEND2	139105	broad.mit.edu	37	chrX	18192194	18192194	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gattatcagtggaaggttctCgcattccttcagggatagca	11	8	3	0			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:18192194C>G	ENST00000380033.4	-	12	2069	c.1937G>C	c.(1936-1938)cGa>cCa	p.R646P	BEND2_ENST00000380030.3_Missense_Mutation_p.R555P	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	646										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGAAGGTTCTCGCATTCCTTC	0.383													False	0	False	X:18192194	0	G	18192194	C	G	18192194	3	3	25	1	0	0	0	0	1	0	0	0	1402	884	31	5	500	5	BEND2	23	18192194	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08		18192194	137078366	89	2117											
DMD	1756	broad.mit.edu	37	chrX	32591647	32591647	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagctagaaagtacatacGgccagtttttgaagacttga	10	6	0	4	rs140919039		TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:32591647G>A	ENST00000357033.4	-	15	2018	c.1812C>T	c.(1810-1812)gcC>gcT	p.A604A	DMD_ENST00000378677.2_Splice_Site_p.A600A|DMD_ENST00000288447.4_Splice_Site_p.A596A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	604					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTACATACGGCCAGTTTTT	0.308													False	0	False	X:32591647	0	A	32591647	G	A	32591647	5	1	25	1	0	0	0	0	0	0	1	0	4610	1130	39	1	9748	1	DMD	23	32591647	Splice_Site	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	14399453	32591647	122678913	90	2118											
ZXDB	158586	broad.mit.edu	37	chrX	57619818	57619818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggctgaaaattcacctgcGgagtcacaccggcgagagac	12	11	2	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:57619818G>A	ENST00000374888.1	+	1	1550	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	446	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ATTCACCTGCGGAGTCACACC	0.488													False	0	False	X:57619818	0	A	57619818	G	A	57619818	3	1	25	1	0	0	0	0	1	0	0	0	18333	1116	39	1	1339	1	ZXDB	23	57619818	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	25028171	57619818	97650742	91	2119											
NRK	203447	broad.mit.edu	37	chrX	105183982	105183982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacagaggaagcctgcAaagctattgataagttaaca	10	6	0	4			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:105183982A>G	ENST00000428173.2	+	23	4222	c.3919A>G	c.(3919-3921)Aaa>Gaa	p.K1307E	NRK_ENST00000243300.9_Missense_Mutation_p.K1306E			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1306	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAAGCCTGCAAAGCTATTGA	0.388										HNSCC(51;0.14)			False	0	True	X:105183982	0	G	105183982	A	G	105183982	3	3	25	1	0	0	0	0	1	0	0	0	10723	131	5	4	4006	4	NRK	23	105183982	Missense_Mutation	SNP	A	TCGA-3A-A9IH-01A-12D-A397-08	47564164	105183982	50086578	92	2120											
USP26	83844	broad.mit.edu	37	chrX	132159668	132159668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggatacctaacacccGcatatcatcgtaagtgaacc	6	14	1	1			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:132159668G>A	ENST00000511190.1	-	6	3050	c.2581C>T	c.(2581-2583)Cgg>Tgg	p.R861W	USP26_ENST00000370832.1_Missense_Mutation_p.R861W|USP26_ENST00000406273.1_Missense_Mutation_p.R861W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	861					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCTAACACCCGCATATCATCG	0.438													False	0	True	X:132159668	0	A	132159668	G	A	132159668	3	1	25	1	0	0	0	0	1	0	0	0	17141	1086	38	1	163	1	USP26	23	132159668	Missense_Mutation	SNP	G	TCGA-3A-A9IH-01A-12D-A397-08	26975686	132159668	23110892	93	2121											
FAM58A	92002	broad.mit.edu	37	chrX	152861517	152861517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgctcttccactttgcCggccaagtaaattgaagaca	9	11	1	2			TCGA-3A-A9IH-01A-12D-A397-08	TCGA-3A-A9IH-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb	e7c1d24a-f6f5-4a28-ac25-d549fcac82ff	g.chrX:152861517C>T	ENST00000406277.2	-	4	337	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	81					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	p.G47S(2)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTTTGCCGGCCAAGTAA	0.527													False	0	False	X:152861517	0	T	152861517	C	T	152861517	3	4	25	1	0	0	0	0	1	0	0	0	5630	652	23	1	521	1	FAM58A	23	152861517	Missense_Mutation	SNP	C	TCGA-3A-A9IH-01A-12D-A397-08	20701849	152861517	2409043	94	2122											
NBPF10	100132406	broad.mit.edu	37	chr1	145311946	145311946	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagcgtgttggcttggctAttgacatggatggtgagtac	14	6	0	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:145311946A>G	ENST00000369338.1	+	10	1385	c.1195A>G	c.(1195-1197)Att>Gtt	p.I399V	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Intron|RP11-458D21.5_ENST00000468030.1_Intron			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	672										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGCTTGGCTATTGACATGGA	0.458													False	0	False	1:145311946	0	G	145311946	A	G	145311946	3	3	26	1	0	0	0	0	1	0	0	0	10260	464	16	4		4	NBPF10	1	145311946	Missense_Mutation	SNP	A	TCGA-3A-A9IU-01A-11D-A397-08		145311946	103938675	1	2123											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858795	149858795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagctggccatccgcaacGacgaggaactgaacaagctg	11	13	0	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:149858795G>A	ENST00000331380.2	+	1	271	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	91					nucleosome assembly	nucleosome|nucleus	DNA binding	p.D91H(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CATCCGCAACGACGAGGAACT	0.597													False	0	False	1:149858795	0	A	149858795	G	A	149858795	3	1	26	1	0	0	0	0	1	0	0	0	7225	1058	37	1	273	1	HIST2H2AC	1	149858795	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	4546849	149858795	99391826	2	2124											
C1orf43	25912	broad.mit.edu	37	chr1	154192337	154192337	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggcattgtgtcccacagggAcatgaggtccccttcgagat	13	11	0	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:154192337A>T	ENST00000368521.5	-	2	341	c.143T>A	c.(142-144)gTc>gAc	p.V48D	C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000350592.3_Intron|C1orf43_ENST00000368518.1_Missense_Mutation_p.V48D|C1orf43_ENST00000368516.1_Intron|C1orf43_ENST00000368519.1_Missense_Mutation_p.V48D	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	48						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TCCCACAGGGACATGAGGTCC	0.428													False	0	True	1:154192337	0	T	154192337	A	T	154192337	3	4	26	1	0	0	0	0	1	0	0	0	2056	275	10	5	642	5	C1orf43	1	154192337	Missense_Mutation	SNP	A	TCGA-3A-A9IU-01A-11D-A397-08	4333542	154192337	95058284	3	2125											
TMEM79	84283	broad.mit.edu	37	chr1	156256255	156256255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctcactggtctctttgCcgtctcccggtaagttgggg	12	12	4	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:156256255C>T	ENST00000405535.2	+	3	1133	c.962C>T	c.(961-963)gCc>gTc	p.A321V	TMEM79_ENST00000357501.2_Silent_p.C82C|TMEM79_ENST00000295694.5_Missense_Mutation_p.A321V|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	321						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GGTCTCTTTGCCGTCTCCCGG	0.562													False	0	False	1:156256255	0	T	156256255	C	T	156256255	3	4	26	1	0	0	0	0	1	0	0	0	16285	739	26	2	968	2	TMEM79	1	156256255	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	2063918	156256255	92994366	4	2126											
KCNJ9	3765	broad.mit.edu	37	chr1	160054516	160054516	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgacctcagcgtgggcttCgacacgggagacgaccgcct	13	15	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:160054516C>T	ENST00000368088.3	+	2	938	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	232					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCGTGGGCTTCGACACGGGAG	0.682													False	0	False	1:160054516	0	T	160054516	C	T	160054516	2	4	26	1	0	0	0	0	0	0	0	1	8107	883	31	1		1	KCNJ9	1	160054516	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	3798261	160054516	89196105	5	2127											
FLVCR1	28982	broad.mit.edu	37	chr1	213061902	213061903	+	Frame_Shift_Ins	INS	-	-	TACT													acttaccctgaatctgaaggINStacttcatctggtcttctta							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:213061902_213061903insTACT	ENST00000366971.4	+	7	1577_1578	c.1379_1380insTACT	c.(1378-1383)ggtactfs	p.-461fs	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1						cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GAATCTGAAGGTACTTCATCTG	0.361													False	1	False	1:213061902	0	TACT	213061903	-	TACT	213061902	7	5	26	1	0	1	1	0	0	0	0	0	5985	1261	44	0	1405	0	FLVCR1	1	213061902	Frame_Shift_Ins	INS	-	TCGA-3A-A9IU-01A-11D-A397-08	53007386	213061902	36188719	6	2128											
PGBD5	79605	broad.mit.edu	37	chr1	230461101	230461101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtagctcaggtgagcgGcaaacgcctccacggccaag	13	12	1	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr1:230461101G>A	ENST00000321327.2	-	8	1423	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Missense_Mutation_p.A330V|PGBD5_ENST00000525115.1_Missense_Mutation_p.A376V			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	376						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CAGGTGAGCGGCAAACGCCTC	0.547													False	0	False	1:230461101	0	A	230461101	G	A	230461101	3	1	26	1	0	0	0	0	1	0	0	0	11853	1203	42	2	248	2	PGBD5	1	230461101	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	17399199	230461101	18789520	7	2129											
ROCK2	9475	broad.mit.edu	37	chr2	11337396	11337396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcttggagttgtgaccGcagctgctcaatgtcactgt	12	10	2	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:11337396G>A	ENST00000315872.6	-	27	3806	c.3358C>T	c.(3358-3360)Cgg>Tgg	p.R1120W	ROCK2_ENST00000401753.1_Missense_Mutation_p.R877W	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1120					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGTTGTGACCGCAGCTGCTCA	0.438													False	0	False	2:11337396	0	A	11337396	G	A	11337396	3	1	26	1	0	0	0	0	1	0	0	0	13597	1086	38	1	836	1	ROCK2	2	11337396	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		11337396	231861977	8	2130											
FOSL2	2355	broad.mit.edu	37	chr2	28635275	28635275	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagtagcagcggggaccaatCatcagactccttgaactccc	9	14	2	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:28635275C>T	ENST00000264716.4	+	4	1804	c.941C>T	c.(940-942)tCa>tTa	p.S314L	FOSL2_ENST00000545753.1_Missense_Mutation_p.S275L|FOSL2_ENST00000379619.1_Missense_Mutation_p.S306L	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	314					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GGGGACCAATCATCAGACTCC	0.622													False	0	False	2:28635275	0	T	28635275	C	T	28635275	3	4	26	1	0	0	0	0	1	0	0	0	6028	838	29	2	955	2	FOSL2	2	28635275	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	17297879	28635275	214564098	9	2131											
TTC27	55622	broad.mit.edu	37	chr2	33003024	33003024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagcaaaggcatttcagCgctgtgtgactctagaaccc	10	11	3	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:33003024C>T	ENST00000317907.4	+	14	1987	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	586			R -> H (in dbSNP:rs17012268).				protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GGCATTTCAGCGCTGTGTGAC	0.438													False	0	False	2:33003024	0	T	33003024	C	T	33003024	3	4	26	1	0	0	0	0	1	0	0	0	16779	768	27	1	1810	1	TTC27	2	33003024	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	4367749	33003024	210196349	10	2132											
LMAN2L	81562	broad.mit.edu	37	chr2	97400208	97400208	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccccatgcagattcttctttCcttgtccatggattttgaag	7	11	2	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:97400208C>G	ENST00000264963.4	-	3	384	c.362G>C	c.(361-363)gGa>gCa	p.G121A	LMAN2L_ENST00000534882.1_Missense_Mutation_p.E4Q|LMAN2L_ENST00000426463.2_Missense_Mutation_p.E4Q|LMAN2L_ENST00000377079.4_Missense_Mutation_p.G121A|LMAN2L_ENST00000537039.1_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	121	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						ATTCTTCTTTCCTTGTCCATG	0.468													False	0	True	2:97400208	0	G	97400208	C	G	97400208	3	3	26	1	0	0	0	0	1	0	0	0	8892	855	30	5	745	5	LMAN2L	2	97400208	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	64397184	97400208	145799165	11	2133											
NMS	129521	broad.mit.edu	37	chr2	101089991	101089991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgggcacctctttctcGccaacctaaggtaaaaaaat	7	11	3	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:101089991G>A	ENST00000376865.1	+	3	180	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	58					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CCTCTTTCTCGCCAACCTAAG	0.343													False	0	False	2:101089991	0	A	101089991	G	A	101089991	3	1	26	1	0	0	0	0	1	0	0	0	10570	1087	38	1	183	1	NMS	2	101089991	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	3689783	101089991	142109382	12	2134											
SMPD4	55627	broad.mit.edu	37	chr2	130910653	130910653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacagcctaaagagtgtgCggaccaagctggcgatctca	12	11	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:130910653C>T	ENST00000409031.1	-	19	3382	c.2234G>A	c.(2233-2235)cGc>cAc	p.R745H	SMPD4_ENST00000351288.6_Missense_Mutation_p.R716H|SMPD4_ENST00000426662.2_Missense_Mutation_p.R381H|SMPD4_ENST00000453750.1_Missense_Mutation_p.R494H|SMPD4_ENST00000339679.7_Missense_Mutation_p.R603H|SMPD4_ENST00000431183.2_Missense_Mutation_p.R643H|SMPD4_ENST00000443958.2_Missense_Mutation_p.R409H|SMPD4_ENST00000452225.2_Missense_Mutation_p.R486H	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	706					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AAAGAGTGTGCGGACCAAGCT	0.582													False	0	False	2:130910653	0	T	130910653	C	T	130910653	3	4	26	1	0	0	0	0	1	0	0	0	14887	768	27	1	374	1	SMPD4	2	130910653	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	29820662	130910653	112288720	13	2135											
ITGA6	0	broad.mit.edu	37	chr2	173333951	173333951	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtcctgagtcagaatctcagGattgaagacgatatggatgg	13	6	2	4			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:173333951G>T	ENST00000375221.2	+	4	689	c.486G>T	c.(484-486)agG>agT	p.R162S	ITGA6_ENST00000343713.4_Missense_Mutation_p.R162S|ITGA6_ENST00000409532.1_Missense_Mutation_p.R48S|ITGA6_ENST00000409080.1_Missense_Mutation_p.R162S|ITGA6_ENST00000264107.7_Missense_Mutation_p.R162S|ITGA6_ENST00000264106.6_Missense_Mutation_p.R162S			P23229	ITA6_HUMAN	integrin, alpha 6	162					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGAATCTCAGGATTGAAGACG	0.473													False	0	False	2:173333951	0	T	173333951	G	T	173333951	3	4	26	1	0	0	0	0	1	0	0	0	7930	1165	41	3	500	3	ITGA6	2	173333951	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	42423298	173333951	69865422	14	2136											
CHRNA1	1134	broad.mit.edu	37	chr2	175612881	175612881	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgatttaattcaatgagtcGacctgcaaacacggctaggg	10	9	1	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr2:175612881G>A	ENST00000348749.5	-	9	1422	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	CHRNA1_ENST00000261007.5_Nonsense_Mutation_p.R474*|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Nonsense_Mutation_p.R369*|CHRNA1_ENST00000409542.1_Nonsense_Mutation_p.R367*	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	474					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TCAATGAGTCGACCTGCAAAC	0.502													False	0	False	2:175612881	0	A	175612881	G	A	175612881	4	1	26	1	0	0	0	0	0	1	0	0	3404	1066	37	1	32	1	CHRNA1	2	175612881	Nonsense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	2278930	175612881	67586492	15	2137											
GRM2	2912	broad.mit.edu	37	chr3	51743211	51743211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctttttgcactggaccGcatcaaccgtgacccgcacc	8	16	1	1	rs144180122	by1000genomes	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:51743211G>A	ENST00000395052.3	+	2	446	c.212G>A	c.(211-213)cGc>cAc	p.R71H	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R71H	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	71					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCACTGGACCGCATCAACCGT	0.632													False	0	False	3:51743211	0	A	51743211	G	A	51743211	3	1	26	1	0	0	0	0	1	0	0	0	6844	1087	38	1	214	1	GRM2	3	51743211	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		51743211	146279219	16	2138											
STAB1	23166	broad.mit.edu	37	chr3	52555958	52555958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatgaaggggatggccgtGtgtgtacaggtaagcagatg	17	5	0	2	rs144247661	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:52555958G>A	ENST00000321725.6	+	58	6338	c.6262G>A	c.(6262-6264)Gtg>Atg	p.V2088M		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2088	EGF-like 14.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.V2088L(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGATGGCCGTGTGTGTACAGG	0.642													False	0	True	3:52555958	0	A	52555958	G	A	52555958	3	1	26	1	0	0	0	0	1	0	0	0	15319	1377	48	2	6492	2	STAB1	3	52555958	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	812747	52555958	145466472	17	2139											
ILDR1	286676	broad.mit.edu	37	chr3	121720701	121720701	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacatcacttcatttatcacGagatctgctcctacacagta	4	13	4	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:121720701G>A	ENST00000273691.3	-	4	495	c.390C>T	c.(388-390)ctC>ctT	p.L130L	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000344209.5_Silent_p.L130L|ILDR1_ENST00000462014.1_Silent_p.L142L	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	130	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CATTTATCACGAGATCTGCTC	0.517													False	0	False	3:121720701	0	A	121720701	G	A	121720701	2	1	26	1	0	0	0	0	0	0	0	1	7759	1045	37	1		1	ILDR1	3	121720701	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	69164743	121720701	76301729	18	2140											
TNIK	23043	broad.mit.edu	37	chr3	170786732	170786732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataacctttaatctttgacCttcttctaccgtgagatcaa	4	10	4	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:170786732C>T	ENST00000436636.2	-	30	3948	c.3604G>A	c.(3604-3606)Ggt>Agt	p.G1202S	TNIK_ENST00000369326.5_Missense_Mutation_p.G1180S|TNIK_ENST00000460047.1_Missense_Mutation_p.G1139S|TNIK_ENST00000488470.1_Missense_Mutation_p.G1147S|TNIK_ENST00000357327.5_Missense_Mutation_p.G1173S|TNIK_ENST00000475336.1_Missense_Mutation_p.G1110S|TNIK_ENST00000284483.8_Missense_Mutation_p.G1194S|TNIK_ENST00000470834.1_Missense_Mutation_p.G1165S|TNIK_ENST00000538048.1_Missense_Mutation_p.G1154S|TNIK_ENST00000341852.6_Missense_Mutation_p.G1118S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1202	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AATCTTTGACCTTCTTCTACC	0.388													False	0	False	3:170786732	0	T	170786732	C	T	170786732	3	4	26	1	0	0	0	0	1	0	0	0	16395	681	24	2	494	2	TNIK	3	170786732	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	49066031	170786732	27235698	19	2141											
PCYT1A	5130	broad.mit.edu	37	chr3	195975170	195975170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagtcaaatattccatcgGcataaactctcacaggtcgc	6	11	2	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr3:195975170G>A	ENST00000292823.2	-	5	414	c.242C>T	c.(241-243)gCc>gTc	p.A81V	PCYT1A_ENST00000431016.1_Missense_Mutation_p.A81V|RP11-447L10.1_ENST00000431391.1_3'UTR|PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000419333.1_Missense_Mutation_p.A81V	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	81	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	TATTCCATCGGCATAAACTCT	0.383													False	0	False	3:195975170	0	A	195975170	G	A	195975170	3	1	26	1	0	0	0	0	1	0	0	0	11678	1203	42	2	885	2	PCYT1A	3	195975170	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	25188438	195975170	2047260	20	2142											
SORCS2	57537	broad.mit.edu	37	chr4	7533314	7533314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagcctggtgtcaccacCgtcatcgacaatttctacat	6	15	3	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr4:7533314C>T	ENST00000507866.2	+	3	715	c.606C>T	c.(604-606)acC>acT	p.T202T	SORCS2_ENST00000511199.1_3'UTR|SORCS2_ENST00000329016.9_Silent_p.T30T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	202						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GTGTCACCACCGTCATCGACA	0.602													False	0	False	4:7533314	0	T	7533314	C	T	7533314	2	4	26	1	0	0	0	0	0	0	0	1	15011	639	23	1		1	SORCS2	4	7533314	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08		7533314	183620962	21	2143											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	26	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-3A-A9IU-01A-11D-A397-08	32901391	40434705	150719571	22	2144											
ACOT12	134526	broad.mit.edu	37	chr5	80667586	80667586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctccatgcttgtgctgaAtgctctagtaacttttgctt	7	10	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr5:80667586A>G	ENST00000307624.3	-	3	269	c.241T>C	c.(241-243)Ttc>Ctc	p.F81L	ACOT12_ENST00000513751.1_Missense_Mutation_p.F81L	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	81	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTTGTGCTGAATGCTCTAGTA	0.393													False	0	False	5:80667586	0	G	80667586	A	G	80667586	3	3	26	1	0	0	0	0	1	0	0	0	150	101	4	4	1478	4	ACOT12	5	80667586	Missense_Mutation	SNP	A	TCGA-3A-A9IU-01A-11D-A397-08		80667586	100247674	23	2145											
GPR98	84059	broad.mit.edu	37	chr5	90046453	90046453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaaaaggaacatatggccGtataaccatagcatgggaag	10	7	0	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr5:90046453G>A	ENST00000405460.2	+	53	11156	c.11060G>A	c.(11059-11061)cGt>cAt	p.R3687H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3687					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACATATGGCCGTATAACCATA	0.343													False	0	False	5:90046453	0	A	90046453	G	A	90046453	3	1	26	1	0	0	0	0	1	0	0	0	6768	1145	40	1	11270	1	GPR98	5	90046453	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	9378867	90046453	90868807	24	2146											
LNPEP	4012	broad.mit.edu	37	chr5	96342191	96342191	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaattattcaaaatatcaAtcggtatcattactggataa	5	5	3	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr5:96342191A>G	ENST00000231368.5	+	11	2699	c.2007A>G	c.(2005-2007)caA>caG	p.Q669Q	LNPEP_ENST00000395770.3_Silent_p.Q655Q	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	669					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CAAAATATCAATCGGTATCAT	0.308													False	0	False	5:96342191	0	G	96342191	A	G	96342191	2	3	26	1	0	0	0	0	0	0	0	1	8917	98	4	4		4	LNPEP	5	96342191	Silent	SNP	A	TCGA-3A-A9IU-01A-11D-A397-08	6295738	96342191	84573069	25	2147											
PCDHA3	0	broad.mit.edu	37	chr5	140181070	140181070	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaccgcgaggaactgtgCgggcggagcgcggagtgcag	19	9	0	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr5:140181070C>T	ENST00000522353.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	PCDHA3_ENST00000532566.2_Silent_p.C96C|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACTGTGCGGGCGGAGCG	0.552													False	0	True	5:140181070	0	T	140181070	C	T	140181070	2	4	26	1	0	0	0	0	0	0	0	1	11593	776	27	1		1	PCDHA3	5	140181070	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	43838879	140181070	40734190	26	2148											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	26	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-3A-A9IU-01A-11D-A397-08		7393450	163721617	27	2149											
ELOVL2	54898	broad.mit.edu	37	chr6	10984107	10984107	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgcaggtggctcttgCatatctttcttcattggctt	8	11	4	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr6:10984107C>A	ENST00000354666.3	-	8	881	c.798G>T	c.(796-798)atG>atT	p.M266I		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	266					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GTGGCTCTTGCATATCTTTCT	0.353													False	0	False	6:10984107	0	A	10984107	C	A	10984107	3	1	26	1	0	0	0	0	1	0	0	0	5106	710	25	3	96	3	ELOVL2	6	10984107	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	3590657	10984107	160130960	28	2150											
ABCA13	154664	broad.mit.edu	37	chr7	48411864	48411864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgctactctggccatcGttctgaaaacaagtggcatc	10	11	2	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr7:48411864G>A	ENST00000435803.1	+	33	10927	c.10903G>A	c.(10903-10905)Gtt>Att	p.V3635I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3635					transport	integral to membrane	ATP binding|ATPase activity	p.V3635I(1)|p.V3580I(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTGGCCATCGTTCTGAAAAC	0.468													False	0	False	7:48411864	0	A	48411864	G	A	48411864	3	1	26	1	0	0	0	0	1	0	0	0	31	1145	40	1	10862	1	ABCA13	7	48411864	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		48411864	110726799	29	2151											
MGAM	8972	broad.mit.edu	37	chr7	141767225	141767225	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagccctgtcctggagcgCgtgagtatggaggcctccga	15	12	1	1	rs7778384	by1000genomes	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr7:141767225C>T	ENST00000475668.2	+	42	5058	c.5004C>T	c.(5002-5004)cgC>cgT	p.R1668R	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1668	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTGGAGCGCGTGAGTATGG	0.592													False	0	False	7:141767225	0	T	141767225	C	T	141767225	5	4	26	1	0	0	0	0	0	0	1	0	9608	783	27	1		1	MGAM	7	141767225	Splice_Site	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	93355361	141767225	17371438	30	2152											
OR2A12	346525	broad.mit.edu	37	chr7	143792898	143792898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccagtctggggagggccGcagaaaggccttctctacct	13	12	2	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr7:143792898G>A	ENST00000408949.2	+	1	758	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R233L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GGGGAGGGCCGCAGAAAGGCC	0.592													False	0	False	7:143792898	0	A	143792898	G	A	143792898	3	1	26	1	0	0	0	0	1	0	0	0	11043	1087	38	1	700	1	OR2A12	7	143792898	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	2025673	143792898	15345765	31	2153											
TNKS	8658	broad.mit.edu	37	chr8	9609296	9609296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctttagcagagttggccGtaggaggagcctccaatgca	13	11	0	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr8:9609296G>A	ENST00000310430.6	+	19	3036	c.3010G>A	c.(3010-3012)Gta>Ata	p.V1004I	TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1004					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAGTTGGCCGTAGGAGGAGC	0.542													False	0	False	8:9609296	0	A	9609296	G	A	9609296	3	1	26	1	0	0	0	0	1	0	0	0	16401	1145	40	1	3084	1	TNKS	8	9609296	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		9609296	136754726	32	2154											
RALYL	138046	broad.mit.edu	37	chr8	85774611	85774611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagagtggcagtcacaaCgactcgcagggggaaaggag	15	10	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr8:85774611C>T	ENST00000521268.1	+	6	1599	c.494C>T	c.(493-495)aCg>aTg	p.T165M	RALYL_ENST00000521376.1_Missense_Mutation_p.T76M|RALYL_ENST00000517638.1_Missense_Mutation_p.T178M|RALYL_ENST00000522455.1_Missense_Mutation_p.T165M|RALYL_ENST00000518566.1_Missense_Mutation_p.T154M|RALYL_ENST00000523850.1_Missense_Mutation_p.T92M|RALYL_ENST00000521695.1_Missense_Mutation_p.T165M	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	165							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GCAGTCACAACGACTCGCAGG	0.483													False	0	False	8:85774611	0	T	85774611	C	T	85774611	3	4	26	1	0	0	0	0	1	0	0	0	13099	536	19	1	555	1	RALYL	8	85774611	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	76165315	85774611	60589411	33	2155											
TG	7038	broad.mit.edu	37	chr8	133923730	133923730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgttacatggaaatcaCggcttgaggacatcccagtg	11	8	1	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr8:133923730C>T	ENST00000220616.4	+	19	4151	c.4111C>T	c.(4111-4113)Cgg>Tgg	p.R1371W	TG_ENST00000377869.1_Missense_Mutation_p.R1371W	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1371					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGGAAATCACGGCTTGAGGA	0.478													False	0	False	8:133923730	0	T	133923730	C	T	133923730	3	4	26	1	0	0	0	0	1	0	0	0	15895	527	19	1	4185	1	TG	8	133923730	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	48149119	133923730	12440292	34	2156											
KDM4C	23081	broad.mit.edu	37	chr9	7049110	7049110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgggcccatgtcatgtgCgccgttgcggtcccagaagt	15	11	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:7049110C>T	ENST00000381309.3	+	17	2899	c.2334C>T	c.(2332-2334)tgC>tgT	p.C778C	KDM4C_ENST00000543771.1_Silent_p.C778C|KDM4C_ENST00000428870.2_Silent_p.C465C|KDM4C_ENST00000535193.1_Silent_p.C800C|KDM4C_ENST00000381306.3_Silent_p.C778C|KDM4C_ENST00000442236.2_Silent_p.C523C|KDM4C_ENST00000536108.1_Intron	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	778					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ATGTCATGTGCGCCGTTGCGG	0.433													False	0	False	9:7049110	0	T	7049110	C	T	7049110	2	4	26	1	0	0	0	0	0	0	0	1	8180	776	27	1		1	KDM4C	9	7049110	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08		7049110	134164321	35	2157											
CDKN2A	1029	broad.mit.edu	37	chr9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacatcgcgatggcccagctCctcagccaggtccacgggca	12	16	1	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	False	9:21971000	0	A	21971000	C	A	21971000	4	1	26	1	0	0	0	0	0	1	0	0	3184	864	30	3	120	3	CDKN2A	9	21971000	Nonsense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	14921890	21971000	119242431	36	2158											
PRSS3	5646	broad.mit.edu	37	chr9	33796802	33796803	+	Splice_Site	INS	-	-	TGG													agctcactgctacaagacgtINSaagtgtggggcccctgactg							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:33796802_33796803insTGG	ENST00000361005.5	+	2	371		c.e2+2		PRSS3_ENST00000429677.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Splice_Site|PRSS3_ENST00000342836.4_Splice_Site	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3						digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CTACAAGACGTAAGTGTGGGGC	0.594													False	0	False	9:33796802	0	TGG	33796803	-	TGG	33796802	8	5	26	1	0	1	1	0	0	0	1	0	12698	1652	57	0	423	0	PRSS3	9	33796802	Splice_Site	INS	-	TCGA-3A-A9IU-01A-11D-A397-08	11825802	33796802	107416629	37	2159											
RORB	6096	broad.mit.edu	37	chr9	77282784	77282784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaccgaggaggagatcGctttgttctcatctgctgtt	12	9	2	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:77282784G>A	ENST00000376896.3	+	8	1690	c.1078G>A	c.(1078-1080)Gct>Act	p.A360T	RORB_ENST00000396204.2_Missense_Mutation_p.A371T	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B		Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGAGGAGATCGCTTTGTTCTC	0.388													False	0	False	9:77282784	0	A	77282784	G	A	77282784	3	1	26	1	0	0	0	0	1	0	0	0	13608	1087	38	1	1108	1	RORB	9	77282784	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	43485982	77282784	63930647	38	2160											
TNC	3371	broad.mit.edu	37	chr9	117848514	117848514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtccctggggcattggCgatcccggcagtcttcccct	12	15	1	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:117848514C>T	ENST00000350763.4	-	3	1907	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	TNC_ENST00000542877.1_Missense_Mutation_p.R499H|TNC_ENST00000535648.1_Missense_Mutation_p.R499H|TNC_ENST00000345230.3_Missense_Mutation_p.R499H|TNC_ENST00000423613.2_Missense_Mutation_p.R499H|TNC_ENST00000341037.4_Missense_Mutation_p.R499H|TNC_ENST00000346706.3_Missense_Mutation_p.R499H|TNC_ENST00000537320.1_Missense_Mutation_p.R499H|TNC_ENST00000340094.3_Missense_Mutation_p.R499H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	499	EGF-like 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.R499H(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGGGCATTGGCGATCCCGGCA	0.597													False	0	False	9:117848514	0	T	117848514	C	T	117848514	3	4	26	1	0	0	0	0	1	0	0	0	16352	768	27	1	5213	1	TNC	9	117848514	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	40565730	117848514	23364917	39	2161											
CERCAM	51148	broad.mit.edu	37	chr9	131193524	131193524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggacccttactcgggccGcactctgaccaagggcgagg	13	15	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr9:131193524G>A	ENST00000372842.1	+	10	4055	c.911G>A	c.(910-912)cGc>cAc	p.R304H	CERCAM_ENST00000372838.4_Missense_Mutation_p.R382H			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	382					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TACTCGGGCCGCACTCTGACC	0.627													False	0	False	9:131193524	0	A	131193524	G	A	131193524	3	1	26	1	0	0	0	0	1	0	0	0	3289	1087	38	1	1179	1	CERCAM	9	131193524	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	13345010	131193524	10019907	40	2162											
ARHGAP21	57584	broad.mit.edu	37	chr10	24874291	24874291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcaaggctgtggggaacaCgggaaactcgctctcgctgt	14	10	2	0	rs1143061		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr10:24874291C>T	ENST00000396432.2	-	26	5413	c.4927G>A	c.(4927-4929)Gtg>Atg	p.V1643M		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1642	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGGGGAACACGGGAAACTCG	0.532													False	0	True	10:24874291	0	T	24874291	C	T	24874291	3	4	26	1	0	0	0	0	1	0	0	0	873	536	19	1	953	1	ARHGAP21	10	24874291	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08		24874291	110660456	41	2163											
PTPRJ	5795	broad.mit.edu	37	chr11	48186036	48186036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggattgtgtatgaccttcGaatgcataggcctttaatgg	12	6	0	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr11:48186036G>T	ENST00000418331.2	+	24	4176	c.3824G>T	c.(3823-3825)cGa>cTa	p.R1275L		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1275	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATGACCTTCGAATGCATAGG	0.428													False	0	False	11:48186036	0	T	48186036	G	T	48186036	3	4	26	1	0	0	0	0	1	0	0	0	12883	1058	37	3	3927	3	PTPRJ	11	48186036	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		48186036	86820480	42	2164											
ARAP1	116985	broad.mit.edu	37	chr11	72408662	72408662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccttcgctccaccagcaCcagcacctggttctcactgt	6	19	1	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr11:72408662C>T	ENST00000359373.5	-	20	3621	c.2770G>A	c.(2770-2772)Gtg>Atg	p.V924M	ARAP1_ENST00000334211.8_Missense_Mutation_p.V679M|ARAP1_ENST00000393609.3_Missense_Mutation_p.V924M|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Missense_Mutation_p.V679M|ARAP1_ENST00000429686.1_Missense_Mutation_p.V618M|ARAP1_ENST00000455638.2_Missense_Mutation_p.V924M|ARAP1_ENST00000393605.3_Missense_Mutation_p.V684M			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	924					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCCACCAGCACCAGCACCTGG	0.637													False	0	True	11:72408662	0	T	72408662	C	T	72408662	3	4	26	1	0	0	0	0	1	0	0	0	840	507	18	2	1646	2	ARAP1	11	72408662	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	24222626	72408662	62597854	43	2165											
TYR	7299	broad.mit.edu	37	chr11	88924443	88924443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgcccgagggacctttacGgcgtaatcctggaaaccatg	11	12	0	0	rs148815276	by1000genomes	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr11:88924443G>A	ENST00000263321.5	+	2	1395	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	298					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GGACCTTTACGGCGTAATCCT	0.468													False	0	False	11:88924443	0	A	88924443	G	A	88924443	3	1	26	1	0	0	0	0	1	0	0	0	16897	1116	39	1	899	1	TYR	11	88924443	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	16515781	88924443	46082073	44	2166											
PRH2	5555	broad.mit.edu	37	chr12	11083320	11083320	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agggaccacctttgggaggaCagcaatctcaaccctctgct	10	13	2	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:11083320C>G	ENST00000396400.3	+	3	198	c.160C>G	c.(160-162)Cag>Gag	p.Q54E	PRH2_ENST00000381847.3_Missense_Mutation_p.Q54E|PRR4_ENST00000536668.1_Intron	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	54						extracellular space	protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						TTTGGGAGGACAGCAATCTCA	0.552													False	0	False	12:11083320	0	G	11083320	C	G	11083320	3	3	26	1	0	0	0	0	1	0	0	0	12559	479	17	5	170	5	PRH2	12	11083320	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08		11083320	122768575	45	2167											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	26	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	14314964	25398284	108453611	46	2168											
NELL2	4753	broad.mit.edu	37	chr12	45105106	45105106	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaacagctgtgagacaaGgttatctgatgagactctgg	12	7	2	3			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:45105106G>T	ENST00000429094.2	-	11	1662	c.1158C>A	c.(1156-1158)acC>acA	p.T386T	NELL2_ENST00000333837.4_Silent_p.T409T|NELL2_ENST00000549027.1_Silent_p.T385T|NELL2_ENST00000395487.2_Silent_p.T385T|NELL2_ENST00000437801.2_Silent_p.T436T|NELL2_ENST00000551601.1_Silent_p.T385T|NELL2_ENST00000452445.2_Silent_p.T386T	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	386	VWFC 2.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGTGAGACAAGGTTATCTGAT	0.398													False	0	False	12:45105106	0	T	45105106	G	T	45105106	2	4	26	1	0	0	0	0	0	0	0	1	10402	987	35	3		3	NELL2	12	45105106	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	19706822	45105106	88746789	47	2169											
IL26	55801	broad.mit.edu	37	chr12	68619408	68619408	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctttgatatagagagcGtcaacagcttgggacaatgt	12	7	1	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr12:68619408G>A	ENST00000229134.4	-	1	193	c.129C>T	c.(127-129)gaC>gaT	p.D43D	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	43					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TATAGAGAGCGTCAACAGCTT	0.438													False	0	False	12:68619408	0	A	68619408	G	A	68619408	2	1	26	1	0	0	0	0	0	0	0	1	7729	1136	40	1		1	IL26	12	68619408	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	23514302	68619408	65232487	48	2170											
FANCM	57697	broad.mit.edu	37	chr14	45665470	45665470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacttctcttagacttccGcaggaaggaaaaggaacctg	9	10	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr14:45665470G>A	ENST00000267430.5	+	21	5521	c.5436G>A	c.(5434-5436)ccG>ccA	p.P1812P	FANCM_ENST00000542564.2_Silent_p.P1786P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1812	Interaction with FAAP24 and EME1.		P -> A (in dbSNP:rs3736772).		DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTAGACTTCCGCAGGAAGGAA	0.438								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	14:45665470	0	A	45665470	G	A	45665470	2	1	26	1	0	0	0	0	0	0	0	1	5711	1074	38	1		1	FANCM	14	45665470	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		45665470	61684070	49	2171											
EML1	2009	broad.mit.edu	37	chr14	100405582	100405582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacatcaatgccgtctgtcGggcccatgagaagaaactcc	10	13	2	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr14:100405582G>A	ENST00000262233.6	+	21	2379	c.2240G>A	c.(2239-2241)cGg>cAg	p.R747Q	EML1_ENST00000327921.9_Missense_Mutation_p.R735Q|EML1_ENST00000334192.4_Missense_Mutation_p.R766Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	747						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.R766Q(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCCGTCTGTCGGGCCCATGAG	0.552													False	0	True	14:100405582	0	A	100405582	G	A	100405582	3	1	26	1	0	0	0	0	1	0	0	0	5128	1116	39	1	2383	1	EML1	14	100405582	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	54740112	100405582	6943958	50	2172											
ATP10A	57194	broad.mit.edu	37	chr15	25953374	25953374	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgcacaaggtgcgcaggccTtccgccgcatacacgttgag	12	13	0	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr15:25953374T>G	ENST00000356865.6	-	11	2529	c.2418A>C	c.(2416-2418)gaA>gaC	p.E806D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	806					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGCGCAGGCCTTCCGCCGCAT	0.577													False	0	False	15:25953374	0	G	25953374	T	G	25953374	3	3	26	1	0	0	0	0	1	0	0	0	1120	1606	56	4	2125	4	ATP10A	15	25953374	Missense_Mutation	SNP	T	TCGA-3A-A9IU-01A-11D-A397-08		25953374	76578018	51	2173											
VPS33B	26276	broad.mit.edu	37	chr15	91557033	91557033	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccaggatccaaactcaCcttttgagggctgaagatca	8	12	2	3			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr15:91557033C>T	ENST00000333371.3	-	5	711		c.e5+1		VPS33B_ENST00000557358.1_Intron|VPS33B_ENST00000535906.1_Splice_Site|VPS33B_ENST00000535843.1_Splice_Site	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)						cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCCAAACTCACCTTTTGAGGG	0.522													False	0	False	15:91557033	0	T	91557033	C	T	91557033	5	4	26	1	0	0	0	0	0	0	1	0	17286	521	18	2	1571	2	VPS33B	15	91557033	Splice_Site	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	65603659	91557033	10974359	52	2174											
SSTR5	0	broad.mit.edu	37	chr16	1129924	1129924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgccacccgcgcaccgCgccgcagccaacgggcttat	11	20	0	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr16:1129924C>T	ENST00000293897.4	+	1	1144	c.1056C>T	c.(1054-1056)cgC>cgT	p.R352R	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.R352R	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	352				PPAHR -> RPRT (in Ref. 1; AAA20828).	negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CCGCGCACCGCGCCGCAGCCA	0.711													False	0	False	16:1129924	0	T	1129924	C	T	1129924	2	4	26	1	0	0	0	0	0	0	0	1	15283	755	27	1		1	SSTR5	16	1129924	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08		1129924	89224829	53	2175											
PKD1	5310	broad.mit.edu	37	chr16	2156826	2156826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgcttggagccgctgcTgcaattgaggcagcggccct	13	15	0	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr16:2156826T>C	ENST00000262304.4	-	17	7397	c.7189A>G	c.(7189-7191)Agc>Ggc	p.S2397G	PKD1_ENST00000423118.1_Missense_Mutation_p.S2397G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2397	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAGCCGCTGCTGCAATTGAGG	0.662													False	0	False	16:2156826	0	C	2156826	T	C	2156826	3	2	26	1	0	0	0	0	1	0	0	0	12032	1580	55	4	5842	4	PKD1	16	2156826	Missense_Mutation	SNP	T	TCGA-3A-A9IU-01A-11D-A397-08	1026902	2156826	88197927	54	2176											
ADCY9	115	broad.mit.edu	37	chr16	4016903	4016903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagaaccacctcctggcCgatgaggctggcgggccgcc	15	15	0	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr16:4016903C>T	ENST00000294016.3	-	11	3473	c.2935G>A	c.(2935-2937)Ggc>Agc	p.G979S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	979					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCTCCTGGCCGATGAGGCTG	0.582													False	0	False	16:4016903	0	T	4016903	C	T	4016903	3	4	26	1	0	0	0	0	1	0	0	0	301	652	23	1	1130	1	ADCY9	16	4016903	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	1860077	4016903	86337850	55	2177											
HSDL1	83693	broad.mit.edu	37	chr16	84164829	84164829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgatgctttttctggccGtataccaggctccaaccaaa	8	12	1	1	rs143907842		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr16:84164829G>A	ENST00000219439.4	-	3	274	c.98C>T	c.(97-99)aCg>aTg	p.T33M	HSDL1_ENST00000434463.3_Missense_Mutation_p.T33M	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	33	Required for mitochondria translocation.					mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						TTTTCTGGCCGTATACCAGGC	0.493													False	0	False	16:84164829	0	A	84164829	G	A	84164829	3	1	26	1	0	0	0	0	1	0	0	0	7440	1145	40	1	910	1	HSDL1	16	84164829	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	80147926	84164829	6189924	56	2178											
MNT	4335	broad.mit.edu	37	chr17	2297598	2297599	+	Splice_Site	INS	-	-	ACACACACACA													acacacacacacacacacacINSctgttcttctccaatttgtt							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:2297598_2297599insACACACACACA	ENST00000174618.4	-	3	1100_1101		c.e3+1			NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor						multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		cacacacacacCTGTTCTTCTC	0.634													False	0	True	17:2297598	0	ACACACACACA	2297599	-	ACACACACACA	2297598	8	5	26	1	0	1	1	0	0	0	1	0	9745	521	18	0	1068	0	MNT	17	2297598	Splice_Site	INS	-	TCGA-3A-A9IU-01A-11D-A397-08		2297598	78897612	57	2179											
TP53	7157	broad.mit.edu	37	chr17	7579479	7579479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggggccacggggggagCagcctctggcattctgggag	19	10	2	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:7579479C>T	ENST00000420246.2	-	4	340	c.208G>A	c.(208-210)Gct>Act	p.A70T	TP53_ENST00000413465.2_Missense_Mutation_p.A70T|TP53_ENST00000455263.2_Missense_Mutation_p.A70T|TP53_ENST00000445888.2_Missense_Mutation_p.A70T|TP53_ENST00000359597.4_Missense_Mutation_p.A70T|TP53_ENST00000269305.4_Missense_Mutation_p.A70T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	70	Interaction with HRMT1L2.|Interaction with WWOX.		A -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G59fs*23(3)|p.E68fs*76(1)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.A70T(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACGGGGGGAGCAGCCTCTGGC	0.597		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)			False	0	False	17:7579479	0	T	7579479	C	T	7579479	3	4	26	1	0	0	0	0	1	0	0	0	16464	710	25	2	1094	2	TP53	17	7579479	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	5281881	7579479	73615731	58	2180											
SLC16A5	9121	broad.mit.edu	37	chr17	73100117	73100119	+	In_Frame_Del	DEL	CTT	CTT	-													tatgttttctacatgtccagCttcttcctcatctcagctgc							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:73100117_73100119delCTT	ENST00000450736.2	+	5	1621_1623	c.1206_1208delCTT	c.(1204-1209)agcttc>agc	p.F404del	SLC16A5_ENST00000538213.2_In_Frame_Del_p.F444del|SLC16A5_ENST00000329783.4_In_Frame_Del_p.F404del|SLC16A5_ENST00000580123.1_In_Frame_Del_p.F404del			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	404					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	ACATGTCCAGCTTCTTCCTCATC	0.581													False	2	False	17:73100117	0	-	73100119	CTT	-	73100117	7	5	26	1	0	1	0	1	0	0	0	0	14492	796	28	0	1220	0	SLC16A5	17	73100117	In_Frame_Del	DEL	CTT	TCGA-3A-A9IU-01A-11D-A397-08	65520638	73100117	8095093	59	2181											
QRICH2	84074	broad.mit.edu	37	chr17	74288916	74288916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatctctaccaggttggGccaaaccagactgatccatt	9	12	1	3			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:74288916G>A	ENST00000262765.5	-	4	1573	c.1394C>T	c.(1393-1395)gCc>gTc	p.A465V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	465	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						accaggttgggccaaaccaga	0.557													False	0	True	17:74288916	0	A	74288916	G	A	74288916	3	1	26	1	0	0	0	0	1	0	0	0	12959	1203	42	2	3661	2	QRICH2	17	74288916	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	1188799	74288916	6906294	60	2182											
NPLOC4	55666	broad.mit.edu	37	chr17	79556050	79556050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggcgtccttgcatggcaGcaaacactcatcacggacca	11	14	2	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr17:79556050G>A	ENST00000374747.5	-	12	1330	c.1201C>T	c.(1201-1203)Ctg>Ttg	p.L401L	NPLOC4_ENST00000539314.1_Silent_p.L240L|NPLOC4_ENST00000331134.6_Silent_p.L401L			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	401					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TTGCATGGCAGCAAACACTCA	0.498													False	0	False	17:79556050	0	A	79556050	G	A	79556050	2	1	26	1	0	0	0	0	0	0	0	1	10654	962	34	2		2	NPLOC4	17	79556050	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	5267134	79556050	1639160	61	2183											
PPP4R1	9989	broad.mit.edu	37	chr18	9583116	9583116	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgataatcaaaaccctaccCaacgtgaaggatcactgatc	7	11	2	3			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:9583116C>A	ENST00000400556.3	-	9	990	c.917G>T	c.(916-918)tGg>tTg	p.W306L	PPP4R1_ENST00000580583.1_Intron|PPP4R1_ENST00000400555.3_Splice_Site_p.W289L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	306					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						AAACCCTACCCAACGTGAAGG	0.328													False	0	True	18:9583116	0	A	9583116	C	A	9583116	5	1	26	1	0	0	0	0	0	0	1	0	12477	608	21	3	1983	3	PPP4R1	18	9583116	Splice_Site	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08		9583116	68494132	62	2184											
CELF4	56853	broad.mit.edu	37	chr18	34901802	34901802	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcagctactacctcctcGgctctcgctgtccgcaggct	10	17	1	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:34901802G>A	ENST00000420428.2	-	3	807	c.412C>T	c.(412-414)Cga>Tga	p.R138*	CELF4_ENST00000601019.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000412753.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000361795.5_Nonsense_Mutation_p.R138*|CELF4_ENST00000588597.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000334919.5_Nonsense_Mutation_p.R138*|CELF4_ENST00000591287.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000591282.1_Nonsense_Mutation_p.R138*|CELF4_ENST00000603232.1_Nonsense_Mutation_p.R138*	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	138	Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CTACCTCCTCGGCTCTCGCTG	0.647											OREG0024927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	18:34901802	0	A	34901802	G	A	34901802	4	1	26	1	0	0	0	0	0	1	0	0	3241	1124	39	1	1088	1	CELF4	18	34901802	Nonsense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	25318686	34901802	43175446	63	2185											
DSEL	92126	broad.mit.edu	37	chr18	65180274	65180274	+	Missense_Mutation	SNP	C	C	A													tcgccagtccacttaagccaCtgcgcacattctcccagttg							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:65180274C>A	ENST00000310045.7	-	2	3075	c.1602G>T	c.(1600-1602)caG>caT	p.Q534H	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	524						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACTTAAGCCACTGCGCACATT	0.512													False	0	False	18:65180274	0	A	65180274	C	A	65180274	3	1	26	1	0	0	0	0	1	0	0	0	4805	564	20	3	2070	3	DSEL	18	65180274	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	30278472	65180274	12896974	64	2186	20	2									
DSEL	92126	broad.mit.edu	37	chr18	65180275	65180275	+	Missense_Mutation	SNP	T	T	A													cgccagtccacttaagccacTgcgcacattctcccagttga							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr18:65180275T>A	ENST00000310045.7	-	2	3074	c.1601A>T	c.(1600-1602)cAg>cTg	p.Q534L	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	524						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTTAAGCCACTGCGCACATTC	0.517													False	0	False	18:65180275	0	A	65180275	T	A	65180275	3	1	26	1	0	0	0	0	1	0	0	0	4805	1580	55	5	2071	5	DSEL	18	65180275	Missense_Mutation	SNP	T	TCGA-3A-A9IU-01A-11D-A397-08	1	65180275	12896973	65	2187	20	2									
ABHD8	79575	broad.mit.edu	37	chr19	17405196	17405196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcgtggtagacctcgtcGccctcgggccagtactggcc	14	15	0	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:17405196G>A	ENST00000247706.3	-	4	1289	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	350							hydrolase activity	p.G350G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						AGACCTCGTCGCCCTCGGGCC	0.612													False	0	True	19:17405196	0	A	17405196	G	A	17405196	2	1	26	1	0	0	0	0	0	0	0	1	87	1074	38	1		1	ABHD8	19	17405196	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		17405196	41723787	66	2188											
FFAR2	2867	broad.mit.edu	37	chr19	35941577	35941578	+	Frame_Shift_Ins	INS	-	-	AGAAATA													gggtgtgggtcaaggagaagINSggatgccaagttcggacttc							TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:35941577_35941578insAGAAATA	ENST00000599180.1	+	2	1041_1042	c.961_962insAGAAATA	c.(961-963)gggfs	p.G321fs	FFAR2_ENST00000246549.2_Frame_Shift_Ins_p.G321fs|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	321						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCAAGGAGAAGGGATGCCAAGT	0.594													False	0	True	19:35941577	0	AGAAATA	35941578	-	AGAAATA	35941577	7	5	26	1	0	1	1	0	0	0	0	0	5868	1000	35	0	963	0	FFAR2	19	35941577	Frame_Shift_Ins	INS	-	TCGA-3A-A9IU-01A-11D-A397-08	18536381	35941577	23187406	67	2189											
APLP1	333	broad.mit.edu	37	chr19	36362933	36362933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatacacttgcagtggtcgGcaaaggtgaggcagtctctg	13	10	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:36362933G>A	ENST00000221891.4	+	6	1037	c.845G>A	c.(844-846)gGc>gAc	p.G282D	APLP1_ENST00000537454.2_Missense_Mutation_p.G243D|APLP1_ENST00000586861.1_Missense_Mutation_p.G276D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	282					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGTGGTCGGCAAAGGTGAG	0.582													False	0	False	19:36362933	0	A	36362933	G	A	36362933	3	1	26	1	0	0	0	0	1	0	0	0	780	1203	42	2	867	2	APLP1	19	36362933	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	421356	36362933	22766050	68	2190											
RASIP1	54922	broad.mit.edu	37	chr19	49232704	49232704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgggtgctcagggcccgcGcgcactgtgcagtgacgcgg	18	14	1	1			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:49232704G>A	ENST00000222145.4	-	5	1527	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	441					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CAGGGCCCGCGCGCACTGTGC	0.741													False	0	True	19:49232704	0	A	49232704	G	A	49232704	2	1	26	1	0	0	0	0	0	0	0	1	13157	1074	38	1		1	RASIP1	19	49232704	Silent	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	12869771	49232704	9896279	69	2191											
LILRB3	11025	broad.mit.edu	37	chr19	54723027	54723029	+	In_Frame_Del	DEL	CGT	CGT	-													tgtgtttgctgtgacgctgaCgtcggaggaggaggaagagg					rs61734492	byFrequency	TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	CGT	CGT	-	-	CGT	CGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:54723027_54723029delCGT	ENST00000391750.1	-	9	1531_1533	c.1395_1397delACG	c.(1393-1398)cgacgt>cgt	p.465_466RR>R	LILRB3_ENST00000424807.1_In_Frame_Del_p.465_466RR>R|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_In_Frame_Del_p.465_466RR>R|LILRA6_ENST00000270464.5_In_Frame_Del_p.465_466RR>R|LILRA6_ENST00000440558.2_In_Frame_Del_p.465_466RR>R|LILRB3_ENST00000245620.9_In_Frame_Del_p.465_466RR>R|LILRB3_ENST00000346401.6_In_Frame_Del_p.477_478RR>R|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000407860.2_In_Frame_Del_p.482_483RR>R			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	465					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGACGCTGACGTCggaggagga	0.606													False	1	False	19:54723027	0	-	54723029	CGT	-	54723027	7	5	26	1	0	1	0	1	0	0	0	0	8844	536	19	0	525	0	LILRB3	19	54723027	In_Frame_Del	DEL	CGT	TCGA-3A-A9IU-01A-11D-A397-08	5490323	54723027	4405956	70	2192											
NLRP8	126205	broad.mit.edu	37	chr19	56466968	56466968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttttcaggaattttttgCggccttgttttatgttctct	8	7	2	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:56466968C>T	ENST00000291971.3	+	3	1615	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	NLRP8_ENST00000590542.1_Missense_Mutation_p.A515V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	515	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAATTTTTTGCGGCCTTGTTT	0.468													False	0	False	19:56466968	0	T	56466968	C	T	56466968	3	4	26	1	0	0	0	0	1	0	0	0	10551	768	27	1	1554	1	NLRP8	19	56466968	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	1743941	56466968	2662015	71	2193											
A1BG	1	broad.mit.edu	37	chr19	58862886	58862886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcaggtgaaagaagatgcGatctgggctggtgctgctcc	15	8	2	3			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr19:58862886G>A	ENST00000263100.3	-	5	842	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	261	Ig-like V-type 3.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AAGAAGATGCGATCTGGGCTG	0.637													False	0	False	19:58862886	0	A	58862886	G	A	58862886	3	1	26	1	0	0	0	0	1	0	0	0	1	1058	37	1	722	1	A1BG	19	58862886	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	2395918	58862886	266097	72	2194											
DNMT3B	1789	broad.mit.edu	37	chr20	31388677	31388677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgacttggtgattggcGgaagcccatgcaacgatctc	11	10	1	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr20:31388677G>A	ENST00000328111.2	+	18	2263	c.1942G>A	c.(1942-1944)Gga>Aga	p.G648R	DNMT3B_ENST00000348286.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G628R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G628R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G552R|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G640R|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G586R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	648					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGATTGGCGGAAGCCCATG	0.522													False	0	False	20:31388677	0	A	31388677	G	A	31388677	3	1	26	1	0	0	0	0	1	0	0	0	4707	1117	39	1	2048	1	DNMT3B	20	31388677	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		31388677	31636843	73	2195											
OGFR	11054	broad.mit.edu	37	chr20	61444872	61444872	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggggacgagccagcCgagagcccatcggagacccc	14	16	0	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr20:61444872C>T	ENST00000370461.1	+	5	4026	c.1749C>T	c.(1747-1749)gcC>gcT	p.A583A	OGFR_ENST00000290291.6_Silent_p.A635A			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	635	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					ACGAGCCAGCCGAGAGCCCAT	0.736													False	0	True	20:61444872	0	T	61444872	C	T	61444872	2	4	26	1	0	0	0	0	0	0	0	1	10911	639	23	1		1	OGFR	20	61444872	Silent	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	30056195	61444872	1580648	74	2196											
GMEB2	26205	broad.mit.edu	37	chr20	62250746	62250746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacactcacgtcgggagtcGccatggctcagcggaagggg	16	12	2	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr20:62250746G>A	ENST00000266068.1	-	1	483	c.5C>T	c.(4-6)gCg>gTg	p.A2V	GMEB2_ENST00000370077.1_Missense_Mutation_p.A2V			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	2					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GTCGGGAGTCGCCATGGCTCA	0.632													False	0	False	20:62250746	0	A	62250746	G	A	62250746	3	1	26	1	0	0	0	0	1	0	0	0	6533	1087	38	1	1623	1	GMEB2	20	62250746	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08	805874	62250746	774774	75	2197											
ZBED4	9889	broad.mit.edu	37	chr22	50279783	50279783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagggggagcactcgagcGtgcagtgcttcagccatacg	15	11	1	0			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chr22:50279783G>A	ENST00000216268.5	+	2	2950	c.2473G>A	c.(2473-2475)Gtg>Atg	p.V825M		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCACTCGAGCGTGCAGTGCTT	0.627													False	0	False	22:50279783	0	A	50279783	G	A	50279783	3	1	26	1	0	0	0	0	1	0	0	0	17603	1145	40	1	2475	1	ZBED4	22	50279783	Missense_Mutation	SNP	G	TCGA-3A-A9IU-01A-11D-A397-08		50279783	1024783	76	2198											
ESX1	80712	broad.mit.edu	37	chrX	103498998	103499033	+	In_Frame_Del	DEL	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	-													tggcccctccacggtcgtctGgggcggctcctcctgctctt					rs141891783		TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	-	-	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chrX:103498998_103499033delGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	ENST00000372588.4	-	2	391_426	c.308_343delTGCTCGAGCTGAAGCAAGAGCAGGAGGAGCCGCCCC	c.(307-345)ctgctcgagctgaagcaagagcaggaggagccgccccag>cag	p.LLELKQEQEEPP103del		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	103					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ACGGTCGTCTGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCAGGGGCGGCTC	0.712													False	1	False	X:103498998	0	-	103499033	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	-	103498998	7	5	26	1	0	1	0	1	0	0	0	0	5295	1357	47	0	889	0	ESX1	23	103498998	In_Frame_Del	DEL	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	TCGA-3A-A9IU-01A-11D-A397-08		103498998	51771562	77	2199											
GPR112	139378	broad.mit.edu	37	chrX	135429875	135429875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctcccacttctggaagcaCacagattacaccaaccttga	5	14	2	2			TCGA-3A-A9IU-01A-11D-A397-08	TCGA-3A-A9IU-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	912bafe3-1218-44c3-ba4e-16aeac4f598e	c7a38788-c7eb-42b3-a1f2-75d82c600d91	g.chrX:135429875C>A	ENST00000394143.1	+	6	4301	c.4010C>A	c.(4009-4011)aCa>aAa	p.T1337K	GPR112_ENST00000370652.1_Missense_Mutation_p.T1337K|GPR112_ENST00000412101.1_Missense_Mutation_p.T1132K|GPR112_ENST00000287534.4_Missense_Mutation_p.T1274K|GPR112_ENST00000394141.1_Missense_Mutation_p.T1132K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1337					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTGGAAGCACACAGATTACA	0.463													False	0	True	X:135429875	0	A	135429875	C	A	135429875	3	1	26	1	0	0	0	0	1	0	0	0	6675	478	17	3	4020	3	GPR112	23	135429875	Missense_Mutation	SNP	C	TCGA-3A-A9IU-01A-11D-A397-08	31930877	135429875	19840685	78	2200											
ESPN	83715	broad.mit.edu	37	chr1	6505817	6505879	+	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-													gggcacgattgggaagcccaCacccccaccacccccaccca					rs139266211	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	-	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENST00000377828.1	+	7	1454_1516	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca	p.PPPPPPSFPPPPPPPGTQLPP430del	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	430	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGGAAGcccacacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgcccccacccccacc	0.65													False	1	True	1:6505817	0	-	6505879	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	6505817	7	5	27	1	0	1	0	1	0	0	0	0	5286	478	17	0	1312	0	ESPN	1	6505817	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	TCGA-3A-A9IX-01A-11D-A40W-08		6505817	242744804	1	2201											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	27	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-3A-A9IX-01A-11D-A40W-08	16481568	22987385	226263236	2	2202											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	27	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-3A-A9IX-01A-11D-A40W-08	129684130	152671515	96579106	3	2203											
SLC27A3	11000	broad.mit.edu	37	chr1	153747855	153747855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgtgtgccagcgcacgcGcgctccctggaaggagaagt	17	12	0	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:153747855G>A	ENST00000271857.2	+	1	1026	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SLC27A3_ENST00000368661.3_Missense_Mutation_p.R8H|SLC27A3_ENST00000484014.1_3'UTR			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	8					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCGCACGCGCGCTCCCTGG	0.677													False	0	True	1:153747855	0	A	153747855	G	A	153747855	3	1	27	1	0	0	0	0	1	0	0	0	14607	1087	38	1	25	1	SLC27A3	1	153747855	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	1076340	153747855	95502766	4	2204											
ZNF496	84838	broad.mit.edu	37	chr1	247473673	247473673	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccaatgatgaactctccaTagaagccagtctgggcagga	10	12	2	3			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:247473673T>C	ENST00000294753.4	-	6	1201	c.737A>G	c.(736-738)tAt>tGt	p.Y246C	ZNF496_ENST00000366498.2_Missense_Mutation_p.Y282C|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	246	KRAB.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAACTCTCCATAGAAGCCAGT	0.507													False	0	False	1:247473673	0	C	247473673	T	C	247473673	3	2	27	1	0	0	0	0	1	0	0	0	18028	1406	49	4	1042	4	ZNF496	1	247473673	Missense_Mutation	SNP	T	TCGA-3A-A9IX-01A-11D-A40W-08	93725818	247473673	1776948	5	2205											
GREB1	9687	broad.mit.edu	37	chr2	11772081	11772081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcactccaaccaccggccGtcacgaacatgggctcttta	7	15	3	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:11772081G>A	ENST00000381486.2	+	27	4958	c.4658G>A	c.(4657-4659)cGt>cAt	p.R1553H	GREB1_ENST00000396123.1_Missense_Mutation_p.R551H|GREB1_ENST00000234142.5_Missense_Mutation_p.R1553H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1553						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACCACCGGCCGTCACGAACAT	0.443													False	0	False	2:11772081	0	A	11772081	G	A	11772081	3	1	27	1	0	0	0	0	1	0	0	0	6807	1145	40	1	4868	1	GREB1	2	11772081	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		11772081	231427292	6	2206											
FIGN	55137	broad.mit.edu	37	chr2	164466403	164466403	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtgggattaaaagtcGtttcatgaagtacctccgaa	11	6	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:164466403G>A	ENST00000333129.3	-	3	2253	c.1939C>T	c.(1939-1941)Cga>Tga	p.R647*	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	647						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATTAAAAGTCGTTTCATGAAG	0.443													False	0	True	2:164466403	0	A	164466403	G	A	164466403	4	1	27	1	0	0	0	0	0	1	0	0	5931	1153	40	1	344	1	FIGN	2	164466403	Nonsense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	152694322	164466403	78732970	7	2207											
CASP10	843	broad.mit.edu	37	chr2	202073970	202073970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttggagctgtctactcttCggatgaggccctcattccca	9	12	3	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:202073970C>T	ENST00000286186.6	+	9	1535	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L	CASP10_ENST00000346817.5_Missense_Mutation_p.S324L|CASP10_ENST00000313728.7_Missense_Mutation_p.S300L|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000448480.1_Missense_Mutation_p.S324L|CASP10_ENST00000272879.5_Missense_Mutation_p.S367L	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	367					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTCTACTCTTCGGATGAGGCC	0.527													False	0	False	2:202073970	0	T	202073970	C	T	202073970	3	4	27	1	0	0	0	0	1	0	0	0	2689	893	31	1	1130	1	CASP10	2	202073970	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	37607567	202073970	41125403	8	2208											
ANKZF1	55139	broad.mit.edu	37	chr2	220096743	220096743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacttgtgaccagacctTccagaaccaccaagaacagg	7	13	1	4			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:220096743T>C	ENST00000323348.5	+	3	416	c.242T>C	c.(241-243)tTc>tCc	p.F81S	ANKZF1_ENST00000410034.3_Missense_Mutation_p.F81S|ANKZF1_ENST00000409849.1_Intron	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	81						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCAGACCTTCCAGAACCAC	0.438													False	0	False	2:220096743	0	C	220096743	T	C	220096743	3	2	27	1	0	0	0	0	1	0	0	0	693	1783	62	4	248	4	ANKZF1	2	220096743	Missense_Mutation	SNP	T	TCGA-3A-A9IX-01A-11D-A40W-08	18022773	220096743	23102630	9	2209											
PID1	55022	broad.mit.edu	37	chr2	229890686	229890686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccaaacttggaatggccGgatttccaggagggcattgg	15	8	0	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:229890686G>A	ENST00000392054.3	-	4	748	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	PID1_ENST00000354069.6_Missense_Mutation_p.R139W|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.R106W|PID1_ENST00000409462.1_Missense_Mutation_p.R57W	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	139	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGGAATGGCCGGATTTCCAGG	0.567													False	0	False	2:229890686	0	A	229890686	G	A	229890686	3	1	27	1	0	0	0	0	1	0	0	0	11951	1115	39	1	341	1	PID1	2	229890686	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	9793943	229890686	13308687	10	2210											
CNTN6	27255	broad.mit.edu	37	chr3	1418745	1418745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagtcggtctgaactcGtcattacgtgggaggtaatt	14	6	2	1	rs140014929		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:1418745G>A	ENST00000446702.2	+	17	2779	c.2152G>A	c.(2152-2154)Gtc>Atc	p.V718I	CNTN6_ENST00000539053.1_Missense_Mutation_p.V646I|CNTN6_ENST00000350110.2_Missense_Mutation_p.V718I			Q9UQ52	CNTN6_HUMAN	contactin 6	718	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.V718I(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCTGAACTCGTCATTACGTG	0.373													False	0	False	3:1418745	0	A	1418745	G	A	1418745	3	1	27	1	0	0	0	0	1	0	0	0	3668	1145	40	1	2214	1	CNTN6	3	1418745	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		1418745	196603685	11	2211											
MST1R	4486	broad.mit.edu	37	chr3	49932714	49932714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctggatggactctttccGcagcagtggcacacaggatt	12	10	1	0	rs144584611		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:49932714G>A	ENST00000296474.3	-	14	3184	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1053					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACTCTTTCCGCAGCAGTGGC	0.567													False	0	False	3:49932714	0	A	49932714	G	A	49932714	3	1	27	1	0	0	0	0	1	0	0	0	9958	1086	38	1	1073	1	MST1R	3	49932714	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	48513969	49932714	148089716	12	2212											
WDR82	80335	broad.mit.edu	37	chr3	52292632	52292632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgggcctgtgtgtttaccatCcaacacagctacttttatac	7	12	0	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:52292632C>A	ENST00000296490.3	-	8	1113	c.832G>T	c.(832-834)Gat>Tat	p.D278Y		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	278					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TGTTTACCATCCAACACAGCT	0.448													False	0	False	3:52292632	0	A	52292632	C	A	52292632	3	1	27	1	0	0	0	0	1	0	0	0	17415	855	30	3	117	3	WDR82	3	52292632	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	2359918	52292632	145729798	13	2213											
ROBO2	6092	broad.mit.edu	37	chr3	77600066	77600066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacattcaacgttccgacgCgggttactacatctgccagg	9	13	2	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:77600066C>T	ENST00000461745.1	+	8	2057	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	ROBO2_ENST00000332191.8_Missense_Mutation_p.A386V|ROBO2_ENST00000487694.3_Missense_Mutation_p.A402V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	386	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGTTCCGACGCGGGTTACTAC	0.473													False	0	True	3:77600066	0	T	77600066	C	T	77600066	3	4	27	1	0	0	0	0	1	0	0	0	13593	768	27	1	1189	1	ROBO2	3	77600066	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	25307434	77600066	120422364	14	2214											
MED12L	116931	broad.mit.edu	37	chr3	151082925	151082925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagatcctcagtgacaatgCggccaatcgctacagctttg	9	12	1	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:151082925C>T	ENST00000474524.1	+	20	3049	c.3011C>T	c.(3010-3012)gCg>gTg	p.A1004V	MED12L_ENST00000273432.4_Missense_Mutation_p.A864V|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1004					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGACAATGCGGCCAATCGC	0.473													False	0	False	3:151082925	0	T	151082925	C	T	151082925	3	4	27	1	0	0	0	0	1	0	0	0	9496	768	27	1	3089	1	MED12L	3	151082925	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	73482859	151082925	46939505	15	2215											
SI	6476	broad.mit.edu	37	chr3	164786914	164786914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttataaccatgattatcaaCgaagaagcaccaaggaataa	7	7	1	2	rs149498200		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:164786914C>T	ENST00000264382.3	-	4	387	c.325G>A	c.(325-327)Gtt>Att	p.V109I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	109	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGATTATCAACGAAGAAGCAC	0.363										HNSCC(35;0.089)			False	0	False	3:164786914	0	T	164786914	C	T	164786914	3	4	27	1	0	0	0	0	1	0	0	0	14378	536	19	1	5338	1	SI	3	164786914	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	13703989	164786914	33235516	16	2216											
FAM71B	153745	broad.mit.edu	37	chr5	156592698	156592698	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatagcaaaagagatcttccCgtgtgtcagaagagggacac	11	8	2	3	rs146865558		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr5:156592698C>A	ENST00000302938.4	-	1	577	c.482G>T	c.(481-483)cGg>cTg	p.R161L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	161						nucleus		p.R161L(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGATCTTCCCGTGTGTCAGA	0.498													False	0	True	5:156592698	0	A	156592698	C	A	156592698	3	1	27	1	0	0	0	0	1	0	0	0	5648	652	23	3	1343	3	FAM71B	5	156592698	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		156592698	24322562	17	2217											
FAM8A1	51439	broad.mit.edu	37	chr6	17608527	17608527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatcgaacagcttatgacaTtgtagcaggaaccattgtgg	10	7	0	1	rs141097358	by1000genomes	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:17608527T>C	ENST00000259963.3	+	5	1254	c.1199T>C	c.(1198-1200)aTt>aCt	p.I400T		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	400	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCTTATGACATTGTAGCAGGA	0.398													False	0	False	6:17608527	0	C	17608527	T	C	17608527	3	2	27	1	0	0	0	0	1	0	0	0	5689	1493	52	4	1217	4	FAM8A1	6	17608527	Missense_Mutation	SNP	T	TCGA-3A-A9IX-01A-11D-A40W-08		17608527	153506540	18	2218											
GPR116	221395	broad.mit.edu	37	chr6	46830721	46830721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttgtaagtgatggtcccGccaatgggactctcagggct	12	10	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:46830721G>A	ENST00000283296.7	-	15	2391	c.2103C>T	c.(2101-2103)ggC>ggT	p.G701G	GPR116_ENST00000265417.7_Silent_p.G701G|GPR116_ENST00000456426.2_Silent_p.G559G|GPR116_ENST00000362015.4_Silent_p.G701G|GPR116_ENST00000545669.1_Silent_p.G130G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	701					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGATGGTCCCGCCAATGGGAC	0.537													False	0	True	6:46830721	0	A	46830721	G	A	46830721	2	1	27	1	0	0	0	0	0	0	0	1	6679	1074	38	1		1	GPR116	6	46830721	Silent	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	29222194	46830721	124284346	19	2219											
SDK1	221935	broad.mit.edu	37	chr7	4119186	4119186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctatgacgggaaaacGtccatctccaggtggattgt	12	10	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:4119186G>A	ENST00000404826.2	+	22	3433	c.3294G>A	c.(3292-3294)acG>acA	p.T1098T	SDK1_ENST00000389531.3_Silent_p.T1098T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1098	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACGGGAAAACGTCCATCTCCA	0.572													False	0	False	7:4119186	0	A	4119186	G	A	4119186	2	1	27	1	0	0	0	0	0	0	0	1	14049	1132	40	1		1	SDK1	7	4119186	Silent	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		4119186	155019477	20	2220											
RELN	5649	broad.mit.edu	37	chr7	103474008	103474008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcacacagcctgtgcccGcaggtggagcaatccagatg	11	12	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:103474008G>A	ENST00000428762.1	-	3	608	c.449C>T	c.(448-450)gCg>gTg	p.A150V	RELN_ENST00000343529.5_Missense_Mutation_p.A150V|RELN_ENST00000424685.2_Missense_Mutation_p.A150V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	150	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCTGTGCCCGCAGGTGGAGC	0.473													False	0	True	7:103474008	0	A	103474008	G	A	103474008	3	1	27	1	0	0	0	0	1	0	0	0	13299	1087	38	1	10185	1	RELN	7	103474008	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	99354822	103474008	55664655	21	2221											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138434008	138434008	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgttaaatgtgggaggggCtgttttagattgcactgtgg	15	5	0	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:138434008C>A	ENST00000310018.2	-	12	1366	c.1084G>T	c.(1084-1086)Gcc>Tcc	p.A362S	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A362S|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A362S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	362					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGGGAGGGGCTGTTTTAGAT	0.453													False	0	True	7:138434008	0	A	138434008	C	A	138434008	3	1	27	1	0	0	0	0	1	0	0	0	1174	797	28	3	1482	3	ATP6V0A4	7	138434008	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	34960000	138434008	20704655	22	2222											
CSMD1	64478	broad.mit.edu	37	chr8	3263557	3263557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggactgcaccttcacagCggggcacggtggagctccag	15	13	1	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr8:3263557C>T	ENST00000602557.1	-	16	2816	c.2261G>A	c.(2260-2262)cGc>cAc	p.R754H	CSMD1_ENST00000602723.1_Missense_Mutation_p.R754H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R754H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R753H|CSMD1_ENST00000520002.1_Missense_Mutation_p.R754H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R753H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R753H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	754	Sushi 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCTTCACAGCGGGGCACGGT	0.532													False	0	True	8:3263557	0	T	3263557	C	T	3263557	3	4	27	1	0	0	0	0	1	0	0	0	3969	768	27	1	8660	1	CSMD1	8	3263557	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		3263557	143100465	23	2223											
FAM120A	23196	broad.mit.edu	37	chr9	96326634	96326634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaaaacggagtgatggccGaggagaagccggctccccag	15	11	0	3			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:96326634G>A	ENST00000277165.6	+	18	3363	c.3169G>A	c.(3169-3171)Gag>Aag	p.E1057K	FAM120A_ENST00000340893.4_Missense_Mutation_p.E1011K|FAM120A_ENST00000333936.5_Missense_Mutation_p.E1085K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1057	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGTGATGGCCGAGGAGAAGCC	0.537													False	0	False	9:96326634	0	A	96326634	G	A	96326634	3	1	27	1	0	0	0	0	1	0	0	0	5451	1059	37	1	3239	1	FAM120A	9	96326634	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		96326634	44886797	24	2224											
CARD9	64170	broad.mit.edu	37	chr9	139265516	139265516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctttggagctcagcagcGcggtcaggtcctgcaccttc	11	14	3	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:139265516G>A	ENST00000371732.5	-	4	569	c.404C>T	c.(403-405)gCg>gTg	p.A135V	CARD9_ENST00000315908.7_Missense_Mutation_p.A135V|CARD9_ENST00000371734.3_Missense_Mutation_p.A135V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	135					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCTCAGCAGCGCGGTCAGGTC	0.612													False	0	False	9:139265516	0	A	139265516	G	A	139265516	3	1	27	1	0	0	0	0	1	0	0	0	2672	1087	38	1	1299	1	CARD9	9	139265516	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	42938882	139265516	1947915	25	2225											
RBP3	5949	broad.mit.edu	37	chr10	48389530	48389530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacacacccaggacggaggCgtcagcaaaactatcgaagc	10	13	1	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr10:48389530C>T	ENST00000224600.4	-	1	1461	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	450	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGACGGAGGCGTCAGCAAAA	0.617													False	0	False	10:48389530	0	T	48389530	C	T	48389530	3	4	27	1	0	0	0	0	1	0	0	0	13236	768	27	1	2411	1	RBP3	10	48389530	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		48389530	87145217	26	2226											
OR52M1	119772	broad.mit.edu	37	chr11	4566917	4566917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctgcctctgatgatccGcctgcggctgcccctttata	8	16	2	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:4566917G>A	ENST00000360213.1	+	1	497	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGATGATCCGCCTGCGGCTG	0.522													False	0	False	11:4566917	0	A	4566917	G	A	4566917	3	1	27	1	0	0	0	0	1	0	0	0	11194	1087	38	1	499	1	OR52M1	11	4566917	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		4566917	130439599	27	2227											
PLEKHA7	144100	broad.mit.edu	37	chr11	16872763	16872763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaatatttgcggcttatgCgatcctcaggggccacagga	13	9	1	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:16872763C>T	ENST00000355661.3	-	8	681	c.671G>A	c.(670-672)cGc>cAc	p.R224H	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R224H|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R224H			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	224	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.R224H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCGGCTTATGCGATCCTCAGG	0.483													False	0	False	11:16872763	0	T	16872763	C	T	16872763	3	4	27	1	0	0	0	0	1	0	0	0	12130	768	27	1	2758	1	PLEKHA7	11	16872763	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	12305846	16872763	118133753	28	2228											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190613	17190613	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actagctattttgtcaaataGttttgccatgtcagtactga	7	7	2	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:17190613G>C	ENST00000265970.7	-	1	675	c.676C>G	c.(676-678)Cta>Gta	p.L226V	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	226					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTGTCAAATAGTTTTGCCATG	0.378													False	0	True	11:17190613	0	C	17190613	G	C	17190613	3	2	27	1	0	0	0	0	1	0	0	0	11978	1020	36	5	4512	5	PIK3C2A	11	17190613	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	317850	17190613	117815903	29	2229											
KCNA4	3739	broad.mit.edu	37	chr11	30033662	30033662	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gccagagttttcatttgggtCtcaaagcgtaggcctgacac	11	10	2	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:30033662C>G	ENST00000328224.6	-	2	1797	c.564G>C	c.(562-564)gaG>gaC	p.E188D		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	188						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCATTTGGGTCTCAAAGCGTA	0.493													False	0	False	11:30033662	0	G	30033662	C	G	30033662	3	3	27	1	0	0	0	0	1	0	0	0	8055	912	32	5	1401	5	KCNA4	11	30033662	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	12843049	30033662	104972854	30	2230											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	27	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		25398284	108453611	31	2231											
TROAP	10024	broad.mit.edu	37	chr12	49717988	49717988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttagaagatctccctttCctccagcaaaatgtcatctc	4	14	4	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:49717988C>T	ENST00000380327.5	+	4	488	c.388C>T	c.(388-390)Cct>Tct	p.P130S	TROAP_ENST00000257909.3_Intron|TROAP_ENST00000551245.1_Intron|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000548311.1_Intron|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000549534.1_3'UTR	NM_001100620.1	NP_001094090.1	Q12815	TROAP_HUMAN	trophinin associated protein	335					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						ATCTCCCTTTCCTCCAGCAAA	0.522													False	0	True	12:49717988	0	T	49717988	C	T	49717988	3	4	27	1	0	0	0	0	1	0	0	0	16658	855	30	2	398	2	TROAP	12	49717988	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	24319704	49717988	84133907	32	2232											
MBNL2	10150	broad.mit.edu	37	chr13	97999092	97999092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgaggaaactgtgcccGgggagagaccgactgccgct	15	13	0	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr13:97999092G>A	ENST00000345429.6	+	5	1356	c.575G>A	c.(574-576)cGg>cAg	p.R192Q	MBNL2_ENST00000343600.4_Missense_Mutation_p.R192Q|MBNL2_ENST00000376673.3_Missense_Mutation_p.R192Q|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000397601.1_Missense_Mutation_p.R192Q	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	192					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AACTGTGCCCGGGGAGAGACC	0.607													False	0	True	13:97999092	0	A	97999092	G	A	97999092	3	1	27	1	0	0	0	0	1	0	0	0	9421	1116	39	1	589	1	MBNL2	13	97999092	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		97999092	17170786	33	2233											
TEP1	7011	broad.mit.edu	37	chr14	20858856	20858856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaggaaccctttggccaGccagagacagcaggtatttc	10	12	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:20858856G>A	ENST00000262715.5	-	15	2358	c.2318C>T	c.(2317-2319)gCt>gTt	p.A773V	TEP1_ENST00000556935.1_Missense_Mutation_p.A665V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	773					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTTTGGCCAGCCAGAGACAG	0.438													False	0	True	14:20858856	0	A	20858856	G	A	20858856	3	1	27	1	0	0	0	0	1	0	0	0	15841	971	34	2	5729	2	TEP1	14	20858856	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		20858856	86490684	34	2234											
NOVA1	4857	broad.mit.edu	37	chr14	27064659	27064659	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacagcttgatggtggctccAgtttctttttgcaactgaac	10	9	1	2	rs115769795	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:27064659A>T	ENST00000539517.2	-	2	554	c.237T>A	c.(235-237)acT>acA	p.T79T	NOVA1_ENST00000465357.2_Silent_p.T79T|NOVA1_ENST00000574031.1_Silent_p.T79T|NOVA1_ENST00000551754.1_5'UTR|NOVA1_ENST00000547619.1_Silent_p.T79T|NOVA1_ENST00000344429.5_Silent_p.T79T|NOVA1_ENST00000267422.7_5'UTR	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	79	KH 1.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGGTGGCTCCAGTTTCTTTTT	0.423													False	0	False	14:27064659	0	T	27064659	A	T	27064659	2	4	27	1	0	0	0	0	0	0	0	1	10622	175	7	5		5	NOVA1	14	27064659	Silent	SNP	A	TCGA-3A-A9IX-01A-11D-A40W-08	6205803	27064659	80284881	35	2235											
PSMC6	5706	broad.mit.edu	37	chr14	53194224	53194224	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttattctctacaggtatgttCgcaattcgtgctgatcatga	8	8	2	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:53194224C>T	ENST00000445930.2	+	14	1107	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	PSMC6_ENST00000606149.1_Silent_p.F353F|PSMC6_ENST00000557557.1_3'UTR			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	353					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					CAGGTATGTTCGCAATTCGTG	0.323													False	0	False	14:53194224	0	T	53194224	C	T	53194224	2	4	27	1	0	0	0	0	0	0	0	1	12767	883	31	1		1	PSMC6	14	53194224	Silent	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	26129565	53194224	54155316	36	2236											
KCNH5	27133	broad.mit.edu	37	chr14	63269191	63269191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactctaccgccaaggcgcGcagacacccatcgctggcca	10	17	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:63269191G>A	ENST00000322893.7	-	9	1946	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	560					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCAAGGCGCGCAGACACCCA	0.512													False	0	True	14:63269191	0	A	63269191	G	A	63269191	3	1	27	1	0	0	0	0	1	0	0	0	8085	1087	38	1	1334	1	KCNH5	14	63269191	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	10074967	63269191	44080349	37	2237											
THBS1	7057	broad.mit.edu	37	chr15	39884787	39884787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggactctgactcagacCgcattggagatacctgtgac	11	11	2	4			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr15:39884787C>T	ENST00000260356.5	+	17	2716	c.2551C>T	c.(2551-2553)Cgc>Tgc	p.R851C		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	851					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGACTCAGACCGCATTGGAGA	0.453													False	0	False	15:39884787	0	T	39884787	C	T	39884787	3	4	27	1	0	0	0	0	1	0	0	0	15935	652	23	1	2613	1	THBS1	15	39884787	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		39884787	62646605	38	2238											
TYRO3	7301	broad.mit.edu	37	chr15	41857341	41857342	+	Splice_Site	INS	-	-	G													cagtcctgtacagttcaggtINSaggctctccgggccgggcca							TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579													False	0	False	15:41857341	0	G	41857342	-	G	41857341	8	5	27	1	0	1	1	0	0	0	1	0	16898	1652	57	0	807	0	TYRO3	15	41857341	Splice_Site	INS	-	TCGA-3A-A9IX-01A-11D-A40W-08	1972554	41857341	60674051	39	2239											
RHBDF1	64285	broad.mit.edu	37	chr16	108512	108512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatctggcagcgtttccGgtacaggtcgaacttgccaa	12	10	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:108512G>A	ENST00000262316.6	-	18	2537	c.2395C>T	c.(2395-2397)Cgg>Tgg	p.R799W		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	799					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CAGCGTTTCCGGTACAGGTCG	0.552													False	0	False	16:108512	0	A	108512	G	A	108512	3	1	27	1	0	0	0	0	1	0	0	0	13398	1115	39	1	176	1	RHBDF1	16	108512	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		108512	90246241	40	2240											
SEPHS2	22928	broad.mit.edu	37	chr16	30456632	30456632	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttctaccaaggggtaaaaGaagtccgtggtctgcaccag	11	10	3	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:30456632G>T	ENST00000478753.2	-	1	870	c.417C>A	c.(415-417)ttC>ttA	p.F139L	SEPHS2_ENST00000542752.1_Missense_Mutation_p.F82L|SEPHS2_ENST00000500504.2_Missense_Mutation_p.F139L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	139					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGGGGTAAAAGAAGTCCGTGG	0.602													False	0	True	16:30456632	0	T	30456632	G	T	30456632	3	4	27	1	0	0	0	0	1	0	0	0	14136	933	33	3	933	3	SEPHS2	16	30456632	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	30348120	30456632	59898121	41	2241											
HERPUD1	9709	broad.mit.edu	37	chr16	56973198	56973198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgggtcctggtttctccGgttacacaccctatgggtgg	13	12	1	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:56973198G>A	ENST00000439977.2	+	5	678	c.481G>A	c.(481-483)Ggt>Agt	p.G161S	HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Missense_Mutation_p.G136S|HERPUD1_ENST00000300302.5_Missense_Mutation_p.G160S|HERPUD1_ENST00000344114.4_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	161						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TGGTTTCTCCGGTTACACACC	0.493			T	ERG	prostate								False	0	False	16:56973198	0	A	56973198	G	A	56973198	3	1	27	1	0	0	0	0	1	0	0	0	7110	1116	39	1	499	1	HERPUD1	16	56973198	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	26516566	56973198	33381555	42	2242											
PHF12	57649	broad.mit.edu	37	chr17	27239855	27239855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggccggggccagccttgCcggtgtgagaggcctggtag	20	10	0	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:27239855C>T	ENST00000577226.1	-	9	2080	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Silent_p.R578R|PHF12_ENST00000332830.4_Silent_p.R578R			Q96QT6	PHF12_HUMAN	PHD finger protein 12	578	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCCAGCCTTGCCGGTGTGAGA	0.637													False	0	False	17:27239855	0	T	27239855	C	T	27239855	2	4	27	1	0	0	0	0	0	0	0	1	11892	726	26	2		2	PHF12	17	27239855	Silent	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		27239855	53955355	43	2243											
CYB561	1534	broad.mit.edu	37	chr17	61513435	61513435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccagggcgatgacgagcGcaaagatgtgcagcagcccg	14	12	0	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:61513435G>A	ENST00000584031.1	-	3	580	c.281C>T	c.(280-282)gCg>gTg	p.A94V	CYB561_ENST00000448884.2_Missense_Mutation_p.A94V|CYB561_ENST00000582297.1_Missense_Mutation_p.A94V|CYB561_ENST00000542042.1_Missense_Mutation_p.A161V|CYB561_ENST00000581573.1_Missense_Mutation_p.A94V|CYB561_ENST00000582034.1_Missense_Mutation_p.A65V|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000392976.1_Missense_Mutation_p.A94V|CYB561_ENST00000582997.1_Missense_Mutation_p.A101V|CYB561_ENST00000392975.2_Missense_Mutation_p.A94V|CYB561_ENST00000360793.3_Missense_Mutation_p.A94V			P49447	CY561_HUMAN	cytochrome b561	94	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GATGACGAGCGCAAAGATGTG	0.612													False	0	False	17:61513435	0	A	61513435	G	A	61513435	3	1	27	1	0	0	0	0	1	0	0	0	4144	1087	38	1	490	1	CYB561	17	61513435	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	34273580	61513435	19681775	44	2244											
SMAD4	4089	broad.mit.edu	37	chr18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggacccttctggaggagatCgcttttgtttgggtcaactc	12	9	2	1	rs80338963		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2.		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413													False	0	False	18:48591918	0	T	48591918	C	T	48591918	3	4	27	1	0	0	0	0	1	0	0	0	14840	884	31	1	1111	1	SMAD4	18	48591918	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08		48591918	29485330	45	2245											
SLC7A9	11136	broad.mit.edu	37	chr19	33334838	33334838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagcatgtgaccctcccGgcccgccacgtaaatgagtc	10	14	0	3	rs121908484		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:33334838G>A	ENST00000023064.4	-	10	1188	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	SLC7A9_ENST00000590341.1_Missense_Mutation_p.R333W|SLC7A9_ENST00000587772.1_Missense_Mutation_p.R333W	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	333			R -> W (in CSNU; frequent mutation; severe loss of amino acid transport activity).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TGACCCTCCCGGCCCGCCACG	0.567													False	0	True	19:33334838	0	A	33334838	G	A	33334838	3	1	27	1	0	0	0	0	1	0	0	0	14785	1115	39	1	482	1	SLC7A9	19	33334838	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		33334838	25794145	46	2246											
ALDH16A1	126133	broad.mit.edu	37	chr19	49964157	49964157	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccctgccctggctgtggGtaaatgatggcctggggggt	17	9	0	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:49964157G>A	ENST00000293350.4	+	5	740		c.e5+1		ALDH16A1_ENST00000540132.1_Splice_Site|ALDH16A1_ENST00000433981.2_Splice_Site|ALDH16A1_ENST00000455361.2_Splice_Site	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1								oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTGGCTGTGGGTAAATGATGG	0.557													False	0	True	19:49964157	0	A	49964157	G	A	49964157	5	1	27	1	0	0	0	0	0	0	1	0	488	1275	44	2	596	2	ALDH16A1	19	49964157	Splice_Site	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	16629319	49964157	9164826	47	2247											
POLD1	5424	broad.mit.edu	37	chr19	50909518	50909518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattccagtccaagcagaCgggccggcgggacaccaagg	13	13	1	1			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:50909518C>T	ENST00000440232.2	+	11	1375	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M	POLD1_ENST00000599857.1_Missense_Mutation_p.T441M|POLD1_ENST00000595904.1_Missense_Mutation_p.T441M	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	441					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCCAAGCAGACGGGCCGGCGG	0.622								DNA polymerases (catalytic subunits)					False	0	True	19:50909518	0	T	50909518	C	T	50909518	3	4	27	1	0	0	0	0	1	0	0	0	12259	536	19	1	1360	1	POLD1	19	50909518	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	945361	50909518	8219465	48	2248											
MAVS	57506	broad.mit.edu	37	chr20	3844972	3844972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttccagcccctggcccGttccacccccagggcaagcc	8	22	0	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr20:3844972G>A	ENST00000428216.2	+	6	823	c.695G>A	c.(694-696)cGt>cAt	p.R232H	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.R91H	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	232					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCCTGGCCCGTTCCACCCCC	0.622													False	0	True	20:3844972	0	A	3844972	G	A	3844972	3	1	27	1	0	0	0	0	1	0	0	0	9405	1145	40	1	713	1	MAVS	20	3844972	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		3844972	59180548	49	2249											
TMPRSS15	5651	broad.mit.edu	37	chr21	19653400	19653400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcatcatggcaatgtcGttgtcctttcttcgcctatt	8	10	2	1	rs148756781		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:19653400G>A	ENST00000284885.3	-	22	2658	c.2625C>T	c.(2623-2625)aaC>aaT	p.N875N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	875	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGGCAATGTCGTTGTCCTTTC	0.348													False	0	False	21:19653400	0	A	19653400	G	A	19653400	2	1	27	1	0	0	0	0	0	0	0	1	16328	1136	40	1		1	TMPRSS15	21	19653400	Silent	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08		19653400	28476495	50	2250											
KCNJ6	3763	broad.mit.edu	37	chr21	39087258	39087258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggtctccctcacgttgcCgtgatgaacattgcactttc	8	12	2	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:39087258C>T	ENST00000609713.1	-	3	791	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	KCNJ6_ENST00000288309.6_Missense_Mutation_p.G68S	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CTCACGTTGCCGTGATGAACA	0.488													False	0	False	21:39087258	0	T	39087258	C	T	39087258	3	4	27	1	0	0	0	0	1	0	0	0	8105	652	23	1	1077	1	KCNJ6	21	39087258	Missense_Mutation	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	19433858	39087258	9042637	51	2251											
COL6A2	0	broad.mit.edu	37	chr21	47549129	47549129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcaccgtggcctggcggCgagcccccggtcaccttcct	13	17	1	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:47549129C>T	ENST00000357838.4	+	28	2563	c.2481C>T	c.(2479-2481)ggC>ggT	p.G827G	COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000397763.1_Silent_p.G827G	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	564	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGCCTGGCGGCGAGCCCCCGG	0.672													False	0	False	21:47549129	0	T	47549129	C	T	47549129	2	4	27	1	0	0	0	0	0	0	0	1	3723	755	27	1		1	COL6A2	21	47549129	Silent	SNP	C	TCGA-3A-A9IX-01A-11D-A40W-08	8461871	47549129	580766	52	2252											
WWC3	55841	broad.mit.edu	37	chrX	10102530	10102530	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagcagccagcctcgtgaAggagcggcccagccgccggg	16	14	0	2			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:10102530A>G	ENST00000380861.4	+	19	3048	c.2657A>G	c.(2656-2658)aAg>aGg	p.K886R	WWC3_ENST00000454666.1_Missense_Mutation_p.K886R	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	886										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCCTCGTGAAGGAGCGGCCC	0.547													False	0	False	X:10102530	0	G	10102530	A	G	10102530	3	3	27	1	0	0	0	0	1	0	0	0	17497	72	3	4	2727	4	WWC3	23	10102530	Missense_Mutation	SNP	A	TCGA-3A-A9IX-01A-11D-A40W-08		10102530	145168030	53	2253											
BRWD3	254065	broad.mit.edu	37	chrX	79971717	79971717	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tataaagactgatttctatgTcaccttttgcagttcgacat	6	8	2	2	rs146207659		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:79971717T>A	ENST00000373275.4	-	20	2480	c.2264A>T	c.(2263-2265)gAc>gTc	p.D755V	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	755										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GATTTCTATGTCACCTTTTGC	0.323													False	0	False	X:79971717	0	A	79971717	T	A	79971717	3	1	27	1	0	0	0	0	1	0	0	0	1533	1667	58	5	3232	5	BRWD3	23	79971717	Missense_Mutation	SNP	T	TCGA-3A-A9IX-01A-11D-A40W-08	69869187	79971717	75298843	54	2254			1	5		2	2	22	T		3.798777e-05
BRWD3	254065	broad.mit.edu	37	chrX	79971738	79971738	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccttttgcagttcgacatTcttcctgtaccctaataaca	4	13	1	0			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:79971738T>A	ENST00000373275.4	-	20	2459	c.2243A>T	c.(2242-2244)gAa>gTa	p.E748V	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	748										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGTTCGACATTCTTCCTGTAC	0.299													False	0	False	X:79971738	0	A	79971738	T	A	79971738	3	1	27	1	0	0	0	0	1	0	0	0	1533	1783	62	5	3253	5	BRWD3	23	79971738	Missense_Mutation	SNP	T	TCGA-3A-A9IX-01A-11D-A40W-08	21	79971738	75298822	55	2255			1	5		2	2	22	T		3.798777e-05
CENPI	2491	broad.mit.edu	37	chrX	100357364	100357364	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggttagcttcagaagaaattGatattctattaaatattgca	7	4	2	3			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:100357364G>T	ENST00000372927.1	+	3	605	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	CENPI_ENST00000423383.1_Missense_Mutation_p.D110Y|CENPI_ENST00000218507.5_Missense_Mutation_p.D110Y|CENPI_ENST00000372926.1_Missense_Mutation_p.D110Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	110					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGAAGAAATTGATATTCTATT	0.313													False	0	False	X:100357364	0	T	100357364	G	T	100357364	3	4	27	1	0	0	0	0	1	0	0	0	3256	1290	45	3	334	3	CENPI	23	100357364	Missense_Mutation	SNP	G	TCGA-3A-A9IX-01A-11D-A40W-08	20385626	100357364	54913196	56	2256											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887282	12887282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacgagcttctgaagattcCtcaagtggcccaggtatggg	13	9	2	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:12887282C>T	ENST00000535591.1	-	3	770	c.575G>A	c.(574-576)aGg>aAg	p.R192K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	192										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGAAGATTCCTCAAGTGGCC	0.498													False	0	False	1:12887282	0	T	12887282	C	T	12887282	3	4	28	1	0	0	0	0	1	0	0	0	12501	681	24	2	743	2	PRAMEF11	1	12887282	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		12887282	236363339	1	2257											
NBPF3	84224	broad.mit.edu	37	chr1	21798122	21798123	+	In_Frame_Ins	INS	-	-	GAT													cccagttaagggagaagttaINScaggaagggagagatgcctc							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:21798122_21798123insGAT	ENST00000318220.6	+	8	1387_1388	c.339_340insGAT	c.(340-342)cag>GATcag	p.113_114insD	NBPF3_ENST00000454000.2_In_Frame_Ins_p.99_100insD|NBPF3_ENST00000342104.5_In_Frame_Ins_p.169_170insD|NBPF3_ENST00000318249.5_In_Frame_Ins_p.169_170insD			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	169						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGAGAAGTTACAGGAAGGGAG	0.52													False	0	False	1:21798122	0	GAT	21798123	-	GAT	21798122	7	5	28	1	0	1	1	0	0	0	0	0	10265	388	14	0	521	0	NBPF3	1	21798122	In_Frame_Ins	INS	-	TCGA-3A-A9IZ-01A-12D-A40W-08	8910840	21798122	227452499	2	2258											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	28	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-3A-A9IZ-01A-12D-A40W-08	1189263	22987385	226263236	3	2259											
ZSCAN20	7579	broad.mit.edu	37	chr1	33957115	33957115	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagccatcagagccacagaTggcccaggagaggccgtggc	14	13	1	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:33957115T>C	ENST00000361328.3	+	6	1410	c.1257T>C	c.(1255-1257)gaT>gaC	p.D419D	ZSCAN20_ENST00000373413.2_Silent_p.D365D	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	419					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGCCACAGATGGCCCAGGAG	0.607													False	0	False	1:33957115	0	C	33957115	T	C	33957115	2	2	28	1	0	0	0	0	0	0	0	1	18314	1461	51	4		4	ZSCAN20	1	33957115	Silent	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	10969730	33957115	215293506	4	2260											
CSMD2	114784	broad.mit.edu	37	chr1	34383705	34383705	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcttaccagagggaggAgccttctgtcccagtgactt	12	10	1	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:34383705A>T	ENST00000373381.4	-	5	1086	c.910T>A	c.(910-912)Tcc>Acc	p.S304T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	264	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGAGGGAGGAGCCTTCTGTC	0.537													False	0	True	1:34383705	0	T	34383705	A	T	34383705	3	4	28	1	0	0	0	0	1	0	0	0	3970	304	11	5	9933	5	CSMD2	1	34383705	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	426590	34383705	214866916	5	2261											
ZCCHC11	23318	broad.mit.edu	37	chr1	52933891	52933891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaacttttccaagccaattAaaatttgctccctgttgtgt	5	9	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:52933891A>G	ENST00000371544.3	-	15	3189	c.2927T>C	c.(2926-2928)tTa>tCa	p.L976S	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L976S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	976					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAAGCCAATTAAAATTTGCTC	0.308													False	0	True	1:52933891	0	G	52933891	A	G	52933891	3	3	28	1	0	0	0	0	1	0	0	0	17663	372	13	4	2074	4	ZCCHC11	1	52933891	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	18550186	52933891	196316730	6	2262											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77528872	77528872	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgctataaatcatcctgAgaataaacctgtgttctaag	6	8	2	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:77528872A>G	ENST00000477717.1	+	5	1227	c.992A>G	c.(991-993)gAg>gGg	p.E331G		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	331					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AATCATCCTGAGAATAAACCT	0.433													False	0	False	1:77528872	0	G	77528872	A	G	77528872	3	3	28	1	0	0	0	0	1	0	0	0	15309	304	11	4	1010	4	ST6GALNAC5	1	77528872	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	24594981	77528872	171721749	7	2263											
LPHN2	23266	broad.mit.edu	37	chr1	82453016	82453016	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcttcaagatttataTcatttagaggtatcctatct	5	9	4	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:82453016T>C	ENST00000370715.1	+	20	3717	c.3501T>C	c.(3499-3501)taT>taC	p.Y1167Y	LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370728.1_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370717.2_Intron|LPHN2_ENST00000370730.1_Intron			O95490	LPHN2_HUMAN	latrophilin 2	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGATTTATATCATTTAGAGG	0.303													False	0	False	1:82453016	0	C	82453016	T	C	82453016	2	2	28	1	0	0	0	0	0	0	0	1	8978	1450	50	4		4	LPHN2	1	82453016	Silent	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	4924144	82453016	166797605	8	2264											
DENND2D	79961	broad.mit.edu	37	chr1	111730759	111730759	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gactgttactgtacctgcagGaggattcttgctcttctcgg	11	10	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:111730759G>C	ENST00000357640.4	-	11	1562	c.1333C>G	c.(1333-1335)Cct>Gct	p.P445A	DENND2D_ENST00000369752.5_Missense_Mutation_p.P442A	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	445										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GTACCTGCAGGAGGATTCTTG	0.468													False	0	False	1:111730759	0	C	111730759	G	C	111730759	3	2	28	1	0	0	0	0	1	0	0	0	4461	1174	41	5	90	5	DENND2D	1	111730759	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	29277743	111730759	137519862	9	2265											
NGF	4803	broad.mit.edu	37	chr1	115828736	115828736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcacacacacacaggcCgtatctatccggataaaccg	8	14	1	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:115828736C>T	ENST00000369512.2	-	3	849	c.681G>A	c.(679-681)acG>acA	p.T227T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	227					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	ACACACAGGCCGTATCTATCC	0.587													False	0	False	1:115828736	0	T	115828736	C	T	115828736	2	4	28	1	0	0	0	0	0	0	0	1	10463	639	23	1		1	NGF	1	115828736	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	4097977	115828736	133421885	10	2266											
HMGCS2	3158	broad.mit.edu	37	chr1	120299899	120299900	+	Frame_Shift_Ins	INS	-	-	GTGAGACCTGGTCCCTAAAAAAATAAAAAATAAAAAT													caagaagagaactcacccgaINSaagcctccagccccttatat							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:120299899_120299900insGTGAGACCTGGTCCCTAAAAAAATAAAAAATAAAAAT	ENST00000369406.3	-	5	1061_1062	c.1012_1013insATTTTTATTTTTTATTTTTTTAGGGACCAGGTCTCAC	c.(1012-1014)ttcfs	p.F338fs	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Frame_Shift_Ins_p.F296fs	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	338					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AACTCACCCGAAAGCCTCCAGC	0.535													False	0	True	1:120299899	0	GTGAGACCTGGTCCCTAAAAAAATAAAAAATAAAAAT	120299900	-	GTGAGACCTGGTCCCTAAAAAAATAAAAAATAAAAAT	120299899	7	5	28	1	0	1	1	0	0	0	0	0	7280	246	9	0	533	0	HMGCS2	1	120299899	Frame_Shift_Ins	INS	-	TCGA-3A-A9IZ-01A-12D-A40W-08	4471163	120299899	128950722	11	2267											
FLG	2312	broad.mit.edu	37	chr1	152275642	152275642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacatgactggctgtatcgCggtgagaggatccggggtgt	17	7	0	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:152275642C>T	ENST00000368799.1	-	3	11755	c.11720G>A	c.(11719-11721)cGc>cAc	p.R3907H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3907	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTGTATCGCGGTGAGAGGA	0.502									Ichthyosis				False	0	False	1:152275642	0	T	152275642	C	T	152275642	3	4	28	1	0	0	0	0	1	0	0	0	5962	768	27	1	469	1	FLG	1	152275642	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	31975743	152275642	96974979	12	2268											
FLG	2312	broad.mit.edu	37	chr1	152282178	152282178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacactgactgtgtgtctgaCtcttctgagtgtccctcgct	10	12	3	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:152282178C>A	ENST00000368799.1	-	3	5219	c.5184G>T	c.(5182-5184)gaG>gaT	p.E1728D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1728	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTGTCTGACTCTTCTGAGT	0.597									Ichthyosis				False	0	False	1:152282178	0	A	152282178	C	A	152282178	3	1	28	1	0	0	0	0	1	0	0	0	5962	564	20	3	7005	3	FLG	1	152282178	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	6536	152282178	96968443	13	2269											
TBX19	9095	broad.mit.edu	37	chr1	168262442	168262442	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acatagtgcgtgttggaagtGcccatcgaatggtaacaaac	11	8	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:168262442G>C	ENST00000367821.3	+	3	580	c.529G>C	c.(529-531)Gcc>Ccc	p.A177P		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	177					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TGTTGGAAGTGCCCATCGAAT	0.463													False	0	True	1:168262442	0	C	168262442	G	C	168262442	3	2	28	1	0	0	0	0	1	0	0	0	15736	1319	46	5	539	5	TBX19	1	168262442	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	15980264	168262442	80988179	14	2270											
XCL2	6846	broad.mit.edu	37	chr1	168510202	168510202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagactactagccagtcagGgtcacagctgtattggtcga	12	9	2	1	rs149372418	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													False	0	True	1:168510202	0	A	168510202	G	A	168510202	2	1	28	1	0	0	0	0	0	0	0	1	17508	1219	43	2		2	XCL2	1	168510202	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	247760	168510202	80740419	15	2271											
ATAD2B	54454	broad.mit.edu	37	chr2	24051724	24051724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagtaacactcaccaacaCatttttcagccaattcacct	2	14	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:24051724C>T	ENST00000238789.5	-	15	2157	c.1814G>A	c.(1813-1815)tGt>tAt	p.C605Y	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	605							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCACCAACACATTTTTCAGC	0.368													False	0	False	2:24051724	0	T	24051724	C	T	24051724	3	4	28	1	0	0	0	0	1	0	0	0	1076	478	17	2	2618	2	ATAD2B	2	24051724	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		24051724	219147649	16	2272											
DNMT3A	1788	broad.mit.edu	37	chr2	25468126	25468126	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtgtgctcctaccttgCagttttggcacattcctcca	10	12	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:25468126C>G	ENST00000264709.3	-	13	1887	c.1550G>C	c.(1549-1551)tGc>tCc	p.C517S	DNMT3A_ENST00000402667.1_Missense_Mutation_p.C294S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.C517S|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C328S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	517	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTACCTTGCAGTTTTGGCA	0.597			"Mis, F, N, S"		AML								False	0	False	2:25468126	0	G	25468126	C	G	25468126	3	3	28	1	0	0	0	0	1	0	0	0	4706	710	25	5	1232	5	DNMT3A	2	25468126	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	1416402	25468126	217731247	17	2273											
STON1	11037	broad.mit.edu	37	chr2	48808480	48808480	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgagaagcttgaacatctCcagtcagctgagaaccaaga	10	9	2	4			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:48808480C>T	ENST00000309835.3	+	1	718	c.708C>T	c.(706-708)ctC>ctT	p.L236L	STON1-GTF2A1L_ENST00000394754.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L236L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L236L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L236L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L236L|STON1_ENST00000404752.1_Silent_p.L236L|STON1_ENST00000406226.1_Silent_p.L236L					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGAACATCTCCAGTCAGCTG	0.413													False	0	False	2:48808480	0	T	48808480	C	T	48808480	2	4	28	1	0	0	0	0	0	0	0	1	15398	842	30	2		2	STON1	2	48808480	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	23340354	48808480	194390893	18	2274											
FER1L5	90342	broad.mit.edu	37	chr2	97365699	97365721	+	RNA	DEL	GCCCCCAAGCTACCTCCTAGAAC	GCCCCCAAGCTACCTCCTAGAAC	-													tttagatggcgggatcagatGcccccaagctacctcctaga							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	GCCCCCAAGCTACCTCCTAGAAC	GCCCCCAAGCTACCTCCTAGAAC	-	-	GCCCCCAAGCTACCTCCTAGAAC	GCCCCCAAGCTACCTCCTAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:97365699_97365721delGCCCCCAAGCTACCTCCTAGAAC	ENST00000457909.1	+	0	4315_4337							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GGGATCAGATGCCCCCAAGCTACCTCCTAGAACGCTATGCCAA	0.529													False	1	False	2:97365699	0	-	97365721	GCCCCCAAGCTACCTCCTAGAAC	-	97365699	6	5	28	0	1	1	0	1	0	0	0	0	5854	1319	46	0		0	FER1L5	2	97365699	RNA	DEL	GCCCCCAAGCTACCTCCTAGAAC	TCGA-3A-A9IZ-01A-12D-A40W-08	48557219	97365699	145833674	19	2275											
WDR33	55339	broad.mit.edu	37	chr2	128471486	128471486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggacccctgcagtcctgGccaccccggaaaggccccct	13	18	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:128471486G>A	ENST00000322313.4	-	18	3137	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	993					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGCAGTCCTGGCCACCCCGGA	0.662													False	0	False	2:128471486	0	A	128471486	G	A	128471486	2	1	28	1	0	0	0	0	0	0	0	1	17371	1190	42	2		2	WDR33	2	128471486	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	31105787	128471486	114727887	20	2276											
POTEE	445582	broad.mit.edu	37	chr2	131984442	131984442	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtacatgagcaaaaacagcAagtcgtgaaatttttaatca	7	6	1	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:131984442A>C	ENST00000356920.5	+	4	951	c.857A>C	c.(856-858)cAa>cCa	p.Q286P	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.Q296P|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	286							ATP binding										CAAAAACAGCAAGTCGTGAAA	0.328													False	0	False	2:131984442	0	C	131984442	A	C	131984442	3	2	28	1	0	0	0	0	1	0	0	0	12333	130	5	4	871	4	POTEE	2	131984442	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	3512956	131984442	111214931	21	2277											
GALNT5	11227	broad.mit.edu	37	chr2	158157419	158157419	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctcacccagcaaagggagCtgcgaaagaaactgaagtgc	11	11	1	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:158157419C>G	ENST00000259056.4	+	7	2832	c.2347C>G	c.(2347-2349)Ctg>Gtg	p.L783V	GALNT5_ENST00000463418.1_3'UTR	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	783					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCAAAGGGAGCTGCGAAAGAA	0.498													False	0	False	2:158157419	0	G	158157419	C	G	158157419	3	3	28	1	0	0	0	0	1	0	0	0	6259	796	28	5	2373	5	GALNT5	2	158157419	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	26172977	158157419	85041954	22	2278											
GRB14	2888	broad.mit.edu	37	chr2	165353909	165353909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgagtccttcttcaaccGcaactgaaagggcttcagtg	10	11	3	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr2:165353909G>A	ENST00000263915.3	-	10	1734	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	GRB14_ENST00000543549.1_Missense_Mutation_p.A312V	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	399					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTTCAACCGCAACTGAAAG	0.393													False	0	False	2:165353909	0	A	165353909	G	A	165353909	3	1	28	1	0	0	0	0	1	0	0	0	6804	1087	38	1	446	1	GRB14	2	165353909	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	7196490	165353909	77845464	23	2279											
XPC	7508	broad.mit.edu	37	chr3	14209834	14209834	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaggcagaagagatcgagaGaaggctgtactttctctcac	11	9	2	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:14209834G>A	ENST00000285021.7	-	4	673	c.459C>T	c.(457-459)ttC>ttT	p.F153F	XPC_ENST00000449060.2_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	153	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGATCGAGAGAAGGCTGTAC	0.418			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	True	3:14209834	0	A	14209834	G	A	14209834	2	1	28	1	0	0	0	0	0	0	0	1	17525	933	33	2		2	XPC	3	14209834	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08		14209834	183812596	24	2280											
RPL15	6138	broad.mit.edu	37	chr3	23959499	23959499	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccggcctgataaagcgcgccGactgggctacaaggccaagc	13	14	0	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:23959499G>C	ENST00000307839.5	+	2	788	c.149G>C	c.(148-150)cGa>cCa	p.R50P	RPL15_ENST00000354811.5_Missense_Mutation_p.R50P|RPL15_ENST00000456530.2_Missense_Mutation_p.R50P|RPL15_ENST00000415719.1_Missense_Mutation_p.R50P|RPL15_ENST00000413699.1_Missense_Mutation_p.R50P|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000435882.1_Missense_Mutation_p.R50P	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	50					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						AAAGCGCGCCGACTGGGCTAC	0.557													False	0	False	3:23959499	0	C	23959499	G	C	23959499	3	2	28	1	0	0	0	0	1	0	0	0	13641	1058	37	5	151	5	RPL15	3	23959499	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	9749665	23959499	174062931	25	2281											
SEMA3G	56920	broad.mit.edu	37	chr3	52471991	52471991	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgccaccactcaccttcCtggctctggcccaggcactg	8	19	2	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:52471991C>G	ENST00000231721.2	-	14	1733	c.1734G>C	c.(1732-1734)caG>caC	p.Q578H		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	578	Ig-like C2-type.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		ACTCACCTTCCTGGCTCTGGC	0.672													False	0	False	3:52471991	0	G	52471991	C	G	52471991	3	3	28	1	0	0	0	0	1	0	0	0	14111	680	24	5	626	5	SEMA3G	3	52471991	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	28512492	52471991	145550439	26	2282											
MYH15	22989	broad.mit.edu	37	chr3	108149680	108149680	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatttgataattgattaccTgaagctctttaaccgtcttc	5	8	2	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:108149680T>G	ENST00000273353.3	-	27	3427	c.3371A>C	c.(3370-3372)cAg>cCg	p.Q1124P		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1124						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATTGATTACCTGAAGCTCTTT	0.368													False	0	False	3:108149680	0	G	108149680	T	G	108149680	5	3	28	1	0	0	0	0	0	0	1	0	10101	1594	55	4	2533	4	MYH15	3	108149680	Splice_Site	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	55677689	108149680	89872750	27	2283											
FNDC3B	64778	broad.mit.edu	37	chr3	172028627	172028627	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attttttttaggcaccaattGacaacggttcaaaaatcacc	5	9	2	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr3:172028627G>C	ENST00000336824.4	+	11	1309	c.1210G>C	c.(1210-1212)Gac>Cac	p.D404H	FNDC3B_ENST00000415807.2_Missense_Mutation_p.D404H|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D404H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	404	Fibronectin type-III 2.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGCACCAATTGACAACGGTTC	0.343													False	0	False	3:172028627	0	C	172028627	G	C	172028627	3	2	28	1	0	0	0	0	1	0	0	0	6010	1290	45	5	1248	5	FNDC3B	3	172028627	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	63878947	172028627	25993803	28	2284											
SLC9A3	6550	broad.mit.edu	37	chr5	476656	476656	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccccagcccgcagtgcccAcctcctgccgcggcttgtac	10	21	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:476656A>G	ENST00000264938.3	-	12	1900		c.e12+1		CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Splice_Site	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCAGTGCCCACCTCCTGCCG	0.701													False	0	True	5:476656	0	G	476656	A	G	476656	5	3	28	1	0	0	0	0	0	0	1	0	14793	173	6	4	636	4	SLC9A3	5	476656	Splice_Site	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08		476656	180438604	29	2285											
SLC6A3	6531	broad.mit.edu	37	chr5	1432653	1432653	+	Frame_Shift_Del	DEL	A	A	-													tctccactggagtcaccaggAtgggcatccgagcagttggg							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:1432653delA	ENST00000270349.9	-	4	706	c.579delT	c.(577-579)catfs	p.H193fs	SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.H193fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	193					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGTCACCAGGATGGGCATCCG	0.597													False	1	False	5:1432653	0	-	1432653	A	-	1432653	7	5	28	1	0	1	0	1	0	0	0	0	14765	330	12	0	1331	0	SLC6A3	5	1432653	Frame_Shift_Del	DEL	A	TCGA-3A-A9IZ-01A-12D-A40W-08	955997	1432653	179482607	30	2286											
ADAMTS12	81792	broad.mit.edu	37	chr5	33881302	33881302	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccactgagatggcagagGggggcagaggaagccatcat	17	8	1	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:33881302G>A	ENST00000504830.1	-	2	746	c.411C>T	c.(409-411)ccC>ccT	p.P137P	ADAMTS12_ENST00000352040.3_Silent_p.P137P|ADAMTS12_ENST00000515401.1_Silent_p.P137P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	137					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GATGGCAGAGGGGGGCAGAGG	0.532										HNSCC(64;0.19)			False	0	True	5:33881302	0	A	33881302	G	A	33881302	2	1	28	1	0	0	0	0	0	0	0	1	257	1219	43	2		2	ADAMTS12	5	33881302	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	32448649	33881302	147033958	31	2287											
NIPBL	25836	broad.mit.edu	37	chr5	37022228	37022228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtctgaggttgttgctGtagaccccagtattctagca	11	8	2	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:37022228G>A	ENST00000282516.8	+	28	5903	c.5404G>A	c.(5404-5406)Gta>Ata	p.V1802I	NIPBL_ENST00000448238.2_Missense_Mutation_p.V1802I	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1802					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGTTGTTGCTGTAGACCCCAG	0.358													False	0	False	5:37022228	0	A	37022228	G	A	37022228	3	1	28	1	0	0	0	0	1	0	0	0	10496	1377	48	2	5510	2	NIPBL	5	37022228	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	3140926	37022228	143893032	32	2288											
HCN1	348980	broad.mit.edu	37	chr5	45262090	45262090	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaagactgaggaagattctCttggaagagcagctgctggt	13	6	1	4			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:45262090C>T	ENST00000303230.4	-	8	2663	c.2606G>A	c.(2605-2607)aGa>aAa	p.R869K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	869						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGAAGATTCTCTTGGAAGAGC	0.537													False	0	False	5:45262090	0	T	45262090	C	T	45262090	3	4	28	1	0	0	0	0	1	0	0	0	7043	913	32	2	70	2	HCN1	5	45262090	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	8239862	45262090	135653170	33	2289											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	28	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-3A-A9IZ-01A-12D-A40W-08	33348354	78610444	102304816	34	2290											
SLC12A2	6558	broad.mit.edu	37	chr5	127488461	127488461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactgcagcattcaattcGtctttctggagtggaagacc	10	10	3	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:127488461G>A	ENST00000262461.2	+	15	2516	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R776H	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	776					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATTCAATTCGTCTTTCTGGA	0.413													False	0	False	5:127488461	0	A	127488461	G	A	127488461	3	1	28	1	0	0	0	0	1	0	0	0	14464	1145	40	1	2385	1	SLC12A2	5	127488461	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	48878017	127488461	53426799	35	2291											
PCDHGB7	0	broad.mit.edu	37	chr5	140799066	140799066	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcgctcagcgccaatgtgaGcctgcgcgtgttggtgggcg	17	12	1	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:140799066G>C	ENST00000398594.2	+	1	1640	c.1640G>C	c.(1639-1641)aGc>aCc	p.S547T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAATGTGAGCCTGCGCGTG	0.711													False	0	False	5:140799066	0	C	140799066	G	C	140799066	3	2	28	1	0	0	0	0	1	0	0	0	11636	971	34	5	1642	5	PCDHGB7	5	140799066	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	13310605	140799066	40116194	36	2292											
DOCK2	1794	broad.mit.edu	37	chr5	169267840	169267840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagtcatcaccatgggccGggatcacattctgattgtga	11	10	4	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:169267840G>A	ENST00000256935.8	+	27	2863	c.2783G>A	c.(2782-2784)cGg>cAg	p.R928Q	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R420Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	928					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCATGGGCCGGGATCACATT	0.453													False	0	True	5:169267840	0	A	169267840	G	A	169267840	3	1	28	1	0	0	0	0	1	0	0	0	4717	1116	39	1	2889	1	DOCK2	5	169267840	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	28468774	169267840	11647420	37	2293											
ADAMTS2	9509	broad.mit.edu	37	chr5	178585787	178585787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgtgatcgtggtattcatCgtggcccgtgtctggcttct	14	10	3	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr5:178585787C>T	ENST00000251582.7	-	6	1170	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D357N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	357	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGGTATTCATCGTGGCCCGTG	0.612													False	0	False	5:178585787	0	T	178585787	C	T	178585787	3	4	28	1	0	0	0	0	1	0	0	0	265	884	31	1	2709	1	ADAMTS2	5	178585787	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	9317947	178585787	2329473	38	2294											
KIAA0319	9856	broad.mit.edu	37	chr6	24582552	24582552	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggggtggcttattaaattCcattcatagttgtaggttgt	12	4	1	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr6:24582552C>T	ENST00000535378.1	-	7	1731	c.1089G>A	c.(1087-1089)tgG>tgA	p.W363*	KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000378214.3_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.W327*	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	372	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTATTAAATTCCATTCATAGT	0.388													False	0	False	6:24582552	0	T	24582552	C	T	24582552	4	4	28	1	0	0	0	0	0	1	0	0	8218	856	30	2	2166	2	KIAA0319	6	24582552	Nonsense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		24582552	146532515	39	2295											
SESN1	27244	broad.mit.edu	37	chr6	109309803	109309828	+	Frame_Shift_Del	DEL	TTCAGGAGTGCAAACAACAGTTTTGA	TTCAGGAGTGCAAACAACAGTTTTGA	-													tacattcttttggtaaccttTtcaggagtgcaaacaacagt							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	TTCAGGAGTGCAAACAACAGTTTTGA	TTCAGGAGTGCAAACAACAGTTTTGA	-	-	TTCAGGAGTGCAAACAACAGTTTTGA	TTCAGGAGTGCAAACAACAGTTTTGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr6:109309803_109309828delTTCAGGAGTGCAAACAACAGTTTTGA	ENST00000436639.2	-	9	2232_2257	c.1487_1512delTCAAAACTGTTGTTTGCACTCCTGAA	c.(1486-1512)atcaaaactgttgtttgcactcctgaafs	p.IKTVVCTPE496fs	SESN1_ENST00000302071.2_Frame_Shift_Del_p.IKTVVCTPE371fs|SESN1_ENST00000356644.7_Frame_Shift_Del_p.IKTVVCTPE437fs	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	437					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		p.E504Q(1)		cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TGGTAACCTTTTCAGGAGTGCAAACAACAGTTTTGATATAAACTTT	0.341													False	1	True	6:109309803	0	-	109309828	TTCAGGAGTGCAAACAACAGTTTTGA	-	109309803	7	5	28	1	0	1	0	1	0	0	0	0	14205	1838	64	0	151	0	SESN1	6	109309803	Frame_Shift_Del	DEL	TTCAGGAGTGCAAACAACAGTTTTGA	TCGA-3A-A9IZ-01A-12D-A40W-08	84727251	109309803	61805264	40	2296											
CREB5	9586	broad.mit.edu	37	chr7	28610110	28610110	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agccatgccgtcgcctcagtCcagctctgtcatcactcagg	9	16	5	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:28610110C>A	ENST00000357727.2	+	5	809	c.419C>A	c.(418-420)tCc>tAc	p.S140Y	CREB5_ENST00000409603.1_Missense_Mutation_p.S107Y|CREB5_ENST00000396299.2_Missense_Mutation_p.S107Y|CREB5_ENST00000396300.2_Missense_Mutation_p.S133Y	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	140					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TCGCCTCAGTCCAGCTCTGTC	0.622													False	0	False	7:28610110	0	A	28610110	C	A	28610110	3	1	28	1	0	0	0	0	1	0	0	0	3883	855	30	3	437	3	CREB5	7	28610110	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		28610110	130528553	41	2297											
ZNF117	51351	broad.mit.edu	37	chr7	64439374	64439457	+	In_Frame_Del	DEL	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	-													cacattcttcacatttgtagGgtttctcttcagtatgaatt					rs145373826	by1000genomes	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	-	-	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:64439374_64439457delGGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	ENST00000282869.5	-	4	1776_1859	c.492_575delTTACAAATGTAAAGAATGTGGCAAAGCCTTTAACCAGACCTCACACCTTATTAGACATAAGAGAATTCATACTGAAGAGAAACC	c.(490-576)ccttacaaatgtaaagaatgtggcaaagcctttaaccagacctcacaccttattagacataagagaattcatactgaagagaaaccc>ccc	p.164_192PYKCKECGKAFNQTSHLIRHKRIHTEEKP>P		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	164						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R185I(2)|p.H183L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				ACATTTGTAGGGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAAGGTTTTTCTC	0.359													False	1	False	7:64439374	0	-	64439457	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	-	64439374	7	5	28	1	0	1	0	1	0	0	0	0	17800	1232	43	0	880	0	ZNF117	7	64439374	In_Frame_Del	DEL	GGTTTCTCTTCAGTATGAATTCTCTTATGTCTAATAAGGTGTGAGGTCTGGTTAAAGGCTTTGCCACATTCTTTACATTTGTAA	TCGA-3A-A9IZ-01A-12D-A40W-08	35829264	64439374	94699289	42	2298											
SPDYE3	441272	broad.mit.edu	37	chr7	99913460	99913460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagatctgagggtgtcAgacaaggtaaggttgttctc	13	6	3	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522													False	0	False	7:99913460	0	G	99913460	A	G	99913460	2	3	28	1	0	0	0	0	0	0	0	1	15112	175	7	4		4	SPDYE3	7	99913460	Silent	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	35474086	99913460	59225203	43	2299											
SLC26A3	1811	broad.mit.edu	37	chr7	107432381	107432382	+	Frame_Shift_Ins	INS	-	-	CACATTGTTTTTTCCTTATG													cgaccagcagagcaaatgctINSaaacctgtaaacacacaagc							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:107432381_107432382insCACATTGTTTTTTCCTTATG	ENST00000340010.5	-	4	459_460	c.275_276insCATAAGGAAAAAACAATGTG	c.(274-276)ttafs	p.L92fs	SLC26A3_ENST00000422236.2_Frame_Shift_Ins_p.L57fs	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	92					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.L92S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAGCAAATGCTAAACCTGTAAA	0.421													False	0	True	7:107432381	0	CACATTGTTTTTTCCTTATG	107432382	-	CACATTGTTTTTTCCTTATG	107432381	7	5	28	1	0	1	1	0	0	0	0	0	14598	1519	53	0	2090	0	SLC26A3	7	107432381	Frame_Shift_Ins	INS	-	TCGA-3A-A9IZ-01A-12D-A40W-08	7518921	107432381	51706282	44	2300											
TMEM168	64418	broad.mit.edu	37	chr7	112407372	112407372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaaaaaaggttcagaccGcataaccaatttgccaaatg	6	10	1	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:112407372G>A	ENST00000312814.6	-	5	2534	c.1974C>T	c.(1972-1974)tgC>tgT	p.C658C	TMEM168_ENST00000454074.1_Silent_p.C658C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGTTCAGACCGCATAACCAAT	0.433													False	0	False	7:112407372	0	A	112407372	G	A	112407372	2	1	28	1	0	0	0	0	0	0	0	1	16165	1079	38	1		1	TMEM168	7	112407372	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	4974991	112407372	46731291	45	2301											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518053	113518053	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagtgattgcccagagcttaCtaatccttcattttcatgcc	6	11	2	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr7:113518053C>G	ENST00000284601.3	-	4	3162	c.3094G>C	c.(3094-3096)Gta>Cta	p.V1032L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1032					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCAGAGCTTACTAATCCTTCA	0.403													False	0	False	7:113518053	0	G	113518053	C	G	113518053	3	3	28	1	0	0	0	0	1	0	0	0	12445	565	20	5	278	5	PPP1R3A	7	113518053	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	1110681	113518053	45620610	46	2302											
ERI1	90459	broad.mit.edu	37	chr8	8875864	8875864	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaaaaaagtaattgactggAtgaaattgaaggaattagga	10	1	0	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:8875864A>T	ENST00000523898.1	+	6	1319	c.640A>T	c.(640-642)Atg>Ttg	p.M214L	ERI1_ENST00000519292.1_Missense_Mutation_p.M214L|ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000250263.7_Missense_Mutation_p.M214L			Q8IV48	ERI1_HUMAN	exoribonuclease 1	214	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	AATTGACTGGATGAAATTGAA	0.308													False	0	False	8:8875864	0	T	8875864	A	T	8875864	3	4	28	1	0	0	0	0	1	0	0	0	5259	333	12	5	658	5	ERI1	8	8875864	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08		8875864	137488158	47	2303											
PTDSS1	9791	broad.mit.edu	37	chr8	97342493	97342493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttggtatgcagaacactAtggtcaccgagaaaaggtat	11	6	1	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:97342493A>G	ENST00000517309.1	+	11	1552	c.1226A>G	c.(1225-1227)tAt>tGt	p.Y409C	PTDSS1_ENST00000522072.1_Missense_Mutation_p.Y206C|PTDSS1_ENST00000455950.2_Missense_Mutation_p.Y263C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	409					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GCAGAACACTATGGTCACCGA	0.463													False	0	False	8:97342493	0	G	97342493	A	G	97342493	3	3	28	1	0	0	0	0	1	0	0	0	12812	449	16	4	1268	4	PTDSS1	8	97342493	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	88466629	97342493	49021529	48	2304											
OXR1	55074	broad.mit.edu	37	chr8	107705020	107705020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactggtattcgacctgcacGagttgtatcttcaacttctg	8	11	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:107705020G>A	ENST00000445937.1	+	7	851	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	OXR1_ENST00000497705.1_Missense_Mutation_p.R130Q|OXR1_ENST00000517566.2_Missense_Mutation_p.R197Q|OXR1_ENST00000312046.6_Missense_Mutation_p.R190Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Missense_Mutation_p.R197Q|OXR1_ENST00000442977.2_Missense_Mutation_p.R198Q	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	198					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CGACCTGCACGAGTTGTATCT	0.348													False	0	False	8:107705020	0	A	107705020	G	A	107705020	3	1	28	1	0	0	0	0	1	0	0	0	11402	1058	37	1	815	1	OXR1	8	107705020	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	10362527	107705020	38659002	49	2305											
ABRA	137735	broad.mit.edu	37	chr8	107782407	107782407	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccccgctttccttttcGcccggagccatgctgcccac	7	21	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:107782407G>A	ENST00000311955.3	-	1	66	c.12C>T	c.(10-12)ggC>ggT	p.G4G		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	4					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTTCCTTTTCGCCCGGAGCCA	0.592													False	0	True	8:107782407	0	A	107782407	G	A	107782407	2	1	28	1	0	0	0	0	0	0	0	1	100	1074	38	1		1	ABRA	8	107782407	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	77387	107782407	38581615	50	2306											
FBXL6	26233	broad.mit.edu	37	chr8	145580308	145580308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgacaggcagctgaagGggaatgctattacggttgat	14	8	0	2	rs148685592		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr8:145580308G>A	ENST00000331890.5	-	6	1009	c.945C>T	c.(943-945)ccC>ccT	p.P315P	FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Silent_p.P309P	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	315					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCAGCTGAAGGGGAATGCTAT	0.647													False	0	True	8:145580308	0	A	145580308	G	A	145580308	2	1	28	1	0	0	0	0	0	0	0	1	5763	1219	43	2		2	FBXL6	8	145580308	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	37797901	145580308	783714	51	2307											
AQP7	364	broad.mit.edu	37	chr9	33395132	33395132	+	Frame_Shift_Del	DEL	G	G	-													ctctcgcaccatcttcctctGcagtatttcctggatctttg							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:33395132delG	ENST00000539936.1	-	3	326	c.88delC	c.(88-90)cagfs	p.Q30fs	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	30					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		ATCTTCCTCTGCAGTATTTCC	0.572													False	1	False	9:33395132	0	-	33395132	G	-	33395132	7	5	28	1	0	1	0	1	0	0	0	0	833	1328	46	0	964	0	AQP7	9	33395132	Frame_Shift_Del	DEL	G	TCGA-3A-A9IZ-01A-12D-A40W-08		33395132	107818299	52	2308											
PRUNE2	158471	broad.mit.edu	37	chr9	79318726	79318726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttctttcatttaaggaGgctggctgacatgtgtctgg	11	8	3	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:79318726G>A	ENST00000428286.1	-	9	7926	c.6726C>T	c.(6724-6726)gcC>gcT	p.A2242A	PRUNE2_ENST00000376718.3_Silent_p.A2601A			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2601					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CATTTAAGGAGGCTGGCTGAC	0.428													False	0	True	9:79318726	0	A	79318726	G	A	79318726	2	1	28	1	0	0	0	0	0	0	0	1	12717	987	35	2		2	PRUNE2	9	79318726	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	45923594	79318726	61894705	53	2309											
PPP3R2	5535	broad.mit.edu	37	chr9	104357018	104357018	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccatcaccgtcggtgtcGaagacgtcgatcactcgccg	10	15	3	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:104357018G>A	ENST00000374806.1	-	1	265	c.195C>T	c.(193-195)ttC>ttT	p.F65F	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	62	EF-hand 2.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CGTCGGTGTCGAAGACGTCGA	0.577													False	0	False	9:104357018	0	A	104357018	G	A	104357018	2	1	28	1	0	0	0	0	0	0	0	1	12475	1049	37	1		1	PPP3R2	9	104357018	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	25038292	104357018	36856413	54	2310											
NOTCH1	4851	broad.mit.edu	37	chr9	139412288	139412288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgagacgcactcgttgaCgtcgatctcgcatcgggggc	14	12	1	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr9:139412288C>T	ENST00000277541.6	-	8	1432	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	453	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGTTGACGTCGATCTCG	0.657			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			False	0	False	9:139412288	0	T	139412288	C	T	139412288	3	4	28	1	0	0	0	0	1	0	0	0	10615	536	19	1	6418	1	NOTCH1	9	139412288	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	35055270	139412288	1801143	55	2311											
CUBN	8029	broad.mit.edu	37	chr10	16882333	16882333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttataattgttacctgcGgtgagtcctgaagctgtaag	10	7	1	2	rs150358307	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:16882333G>A	ENST00000377833.4	-	62	10093	c.10028C>T	c.(10027-10029)cCg>cTg	p.P3343L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3343	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTACCTGCGGTGAGTCCTG	0.423													False	0	False	10:16882333	0	A	16882333	G	A	16882333	3	1	28	1	0	0	0	0	1	0	0	0	4076	1116	39	1	867	1	CUBN	10	16882333	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08		16882333	118652414	56	2312											
C10orf76	79591	broad.mit.edu	37	chr10	103792843	103792843	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agagcctggatgcagtgttgGaataagcaattaatattgtc	11	5	0	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:103792843G>C	ENST00000370033.4	-	4	365	c.246C>G	c.(244-246)ttC>ttG	p.F82L	C10orf76_ENST00000311122.5_Missense_Mutation_p.F82L	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	82						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TGCAGTGTTGGAATAAGCAAT	0.453													False	0	False	10:103792843	0	C	103792843	G	C	103792843	3	2	28	1	0	0	0	0	1	0	0	0	1624	1165	41	5	1915	5	C10orf76	10	103792843	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	86910510	103792843	31741904	57	2313											
ATRNL1	26033	broad.mit.edu	37	chr10	117221467	117221474	+	Frame_Shift_Del	DEL	TTATCAAT	TTATCAAT	-													acagacagccttttgattgaTtatcaatttaccttcagctt							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	TTATCAAT	TTATCAAT	-	-	TTATCAAT	TTATCAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr10:117221467_117221474delTTATCAAT	ENST00000355044.3	+	22	3465_3472	c.3339_3346delTTATCAAT	c.(3337-3348)gattatcaatttfs	p.YQF1114fs	ATRNL1_ENST00000423111.2_Frame_Shift_Del_p.YQF165fs|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1114						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTTGATTGATTATCAATTTACCTTCAG	0.322													False	1	False	10:117221467	0	-	117221474	TTATCAAT	-	117221467	7	5	28	1	0	1	0	1	0	0	0	0	1211	1490	52	0	3425	0	ATRNL1	10	117221467	Frame_Shift_Del	DEL	TTATCAAT	TCGA-3A-A9IZ-01A-12D-A40W-08	13428624	117221467	18313280	58	2314											
OR51A7	119687	broad.mit.edu	37	chr11	4928955	4928955	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcagtacttctaattatgtCtttggaccgctttcttgcca	6	11	4	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:4928955C>A	ENST00000359350.4	+	1	356	c.356C>A	c.(355-357)tCt>tAt	p.S119Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTAATTATGTCTTTGGACCGC	0.403													False	0	True	11:4928955	0	A	4928955	C	A	4928955	3	1	28	1	0	0	0	0	1	0	0	0	11156	913	32	3	358	3	OR51A7	11	4928955	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		4928955	130077561	59	2315											
ZNF215	7762	broad.mit.edu	37	chr11	6953847	6953847	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatttacaacatccaaacaAcagtaaagatatggtgaccc	6	9	0	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:6953847A>G	ENST00000278319.5	+	3	932	c.344A>G	c.(343-345)aAc>aGc	p.N115S	ZNF215_ENST00000414517.2_Missense_Mutation_p.N115S|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.N115S	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	115	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CATCCAAACAACAGTAAAGAT	0.378													False	0	False	11:6953847	0	G	6953847	A	G	6953847	3	3	28	1	0	0	0	0	1	0	0	0	17854	43	2	4	346	4	ZNF215	11	6953847	Missense_Mutation	SNP	A	TCGA-3A-A9IZ-01A-12D-A40W-08	2024892	6953847	128052669	60	2316											
KCNA4	3739	broad.mit.edu	37	chr11	30032887	30032887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggaatactcggaccagacGaatgattctgaggatggcaa	12	9	1	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:30032887G>A	ENST00000328224.6	-	2	2572	c.1339C>T	c.(1339-1341)Cgt>Tgt	p.R447C		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	447						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CGGACCAGACGAATGATTCTG	0.587													False	0	False	11:30032887	0	A	30032887	G	A	30032887	3	1	28	1	0	0	0	0	1	0	0	0	8055	1058	37	1	626	1	KCNA4	11	30032887	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	23079040	30032887	104973629	61	2317											
OR9Q2	219957	broad.mit.edu	37	chr11	57958767	57958767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaacacaggccagtcctccGagggagaccgagtggtgtct	13	12	1	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:57958767G>A	ENST00000311591.3	+	1	862	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E269K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCAGTCCTCCGAGGGAGACCG	0.552													False	0	False	11:57958767	0	A	57958767	G	A	57958767	3	1	28	1	0	0	0	0	1	0	0	0	11324	1059	37	1	807	1	OR9Q2	11	57958767	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	27925880	57958767	77047749	62	2318											
OR1S2	219958	broad.mit.edu	37	chr11	57970714	57970714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctattgatgagctttctcaGggcacctttcatatccttat	6	10	3	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:57970714G>A	ENST00000302592.6	-	1	939	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGCTTTCTCAGGGCACCTTTC	0.418													False	0	True	11:57970714	0	A	57970714	G	A	57970714	2	1	28	1	0	0	0	0	0	0	0	1	11041	991	35	2		2	OR1S2	11	57970714	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	11947	57970714	77035802	63	2319											
PLEKHB1	58473	broad.mit.edu	37	chr11	73364058	73364058	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctggaggcaaactccacccCggtgagtctcccgttctctc	10	16	2	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:73364058C>G	ENST00000354190.5	+	5	820	c.389C>G	c.(388-390)cCg>cGg	p.P130R	PLEKHB1_ENST00000227214.6_Splice_Site_p.P111R|PLEKHB1_ENST00000543085.1_Splice_Site_p.P60R|PLEKHB1_ENST00000398494.4_Splice_Site_p.P111R|PLEKHB1_ENST00000398492.4_Splice_Site_p.P130R|PLEKHB1_ENST00000535129.1_Splice_Site_p.P111R	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	130					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						AACTCCACCCCGGTGAGTCTC	0.582													False	0	True	11:73364058	0	G	73364058	C	G	73364058	5	3	28	1	0	0	0	0	0	0	1	0	12133	666	23	5	407	5	PLEKHB1	11	73364058	Splice_Site	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	15393344	73364058	61642458	64	2320											
PANX1	24145	broad.mit.edu	37	chr11	93911725	93911725	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catgagagatggagcctgctCagttccaggtgttaccgaga	13	9	1	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr11:93911725C>T	ENST00000227638.3	+	3	897	c.512C>T	c.(511-513)tCa>tTa	p.S171L	PANX1_ENST00000436171.2_Missense_Mutation_p.S171L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	171					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGAGCCTGCTCAGTTCCAGGT	0.483													False	0	False	11:93911725	0	T	93911725	C	T	93911725	3	4	28	1	0	0	0	0	1	0	0	0	11488	838	29	2	522	2	PANX1	11	93911725	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	20547667	93911725	41094791	65	2321											
PRMT8	56341	broad.mit.edu	37	chr12	3649855	3649855	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcatgtgtccactcaaccCagctgcccaggacggggcaa	10	15	2	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:3649855C>A	ENST00000382622.3	+	2	549	c.159C>A	c.(157-159)ccC>ccA	p.P53P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Silent_p.P44P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	53					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCACTCAACCCAGCTGCCCAG	0.602													False	0	True	12:3649855	0	A	3649855	C	A	3649855	2	1	28	1	0	0	0	0	0	0	0	1	12618	581	21	3		3	PRMT8	12	3649855	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		3649855	130202040	66	2322											
EPS8	0	broad.mit.edu	37	chr12	15807213	15807213	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggctagttcaggacctccTgttgcctgcaccacctaaga	9	14	1	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:15807213T>G	ENST00000281172.5	-	13	1552	c.1116A>C	c.(1114-1116)acA>acC	p.T372T	EPS8_ENST00000543612.1_Silent_p.T372T|EPS8_ENST00000542903.1_Silent_p.T112T|EPS8_ENST00000540613.1_Silent_p.T112T|EPS8_ENST00000543523.1_Silent_p.T372T	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	372					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CAGGACCTCCTGTTGCCTGCA	0.373													False	0	False	12:15807213	0	G	15807213	T	G	15807213	2	3	28	1	0	0	0	0	0	0	0	1	5226	1567	55	4		4	EPS8	12	15807213	Silent	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	12157358	15807213	118044682	67	2323											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	28	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	9591071	25398284	108453611	68	2324											
CCDC41	51134	broad.mit.edu	37	chr12	94761622	94761622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgccatctgtgaagcccGcaatttctcttcatactgat	6	12	4	2	rs111647062		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:94761622G>A	ENST00000397809.5	-	11	1840	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W|CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	423										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGTGAAGCCCGCAATTTCTCT	0.373													False	0	True	12:94761622	0	A	94761622	G	A	94761622	3	1	28	1	0	0	0	0	1	0	0	0	2834	1086	38	1	842	1	CCDC41	12	94761622	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	69363338	94761622	39090273	69	2325											
WSB2	55884	broad.mit.edu	37	chr12	118481162	118481162	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttttgctacttcggcttttgGcttcaaaccctttagggatg	9	9	1	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:118481162G>C	ENST00000315436.3	-	3	344	c.203C>G	c.(202-204)gCc>gGc	p.A68G	WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.A70G|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.A85G	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	68					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGGCTTTTGGCTTCAAACCC	0.493													False	0	False	12:118481162	0	C	118481162	G	C	118481162	3	2	28	1	0	0	0	0	1	0	0	0	17489	1203	42	5	1039	5	WSB2	12	118481162	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	23719540	118481162	15370733	70	2326											
SBNO1	55206	broad.mit.edu	37	chr12	123834971	123834971	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagcaagcagtaaatcTtgccctggctccaccatctt	7	13	2	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr12:123834971T>C	ENST00000420886.2	-	1	17	c.18A>G	c.(16-18)caA>caG	p.Q6Q	SBNO1_ENST00000602750.1_Silent_p.Q6Q|SBNO1_ENST00000602398.1_Silent_p.Q6Q|SBNO1_ENST00000267176.4_Silent_p.Q6Q	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	6							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GCAGTAAATCTTGCCCTGGCT	0.383													False	0	False	12:123834971	0	C	123834971	T	C	123834971	2	2	28	1	0	0	0	0	0	0	0	1	13942	1606	56	4		4	SBNO1	12	123834971	Silent	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	5353809	123834971	10016924	71	2327											
SLC15A1	6564	broad.mit.edu	37	chr13	99339977	99339977	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacttcagggcagctgtcaTtctgcagcagtaaggcaaaa	10	10	4	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr13:99339977T>C	ENST00000376503.5	-	21	1740	c.1685A>G	c.(1684-1686)aAt>aGt	p.N562S		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	562					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GCAGCTGTCATTCTGCAGCAG	0.408													False	0	False	13:99339977	0	C	99339977	T	C	99339977	5	2	28	1	0	0	0	0	0	0	1	0	14479	1507	52	4	453	4	SLC15A1	13	99339977	Splice_Site	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08		99339977	15829901	72	2328											
PSMB11	122706	broad.mit.edu	37	chr14	23511502	23511502	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	accatcacctcacctgcctcGggctggcggctgggctgtgc	13	16	2	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr14:23511502G>C	ENST00000408907.2	+	1	127	c.68G>C	c.(67-69)cGg>cCg	p.R23P		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	23					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CACCTGCCTCGGGCTGGCGGC	0.637													False	0	True	14:23511502	0	C	23511502	G	C	23511502	3	2	28	1	0	0	0	0	1	0	0	0	12752	1116	39	5	70	5	PSMB11	14	23511502	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08		23511502	83838038	73	2329											
RCOR1	23186	broad.mit.edu	37	chr14	103180896	103180896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtttctgccaatgccaCtgctgctaccacggtgctga	11	13	1	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr14:103180896C>T	ENST00000262241.6	+	8	1221	c.995C>T	c.(994-996)aCt>aTt	p.T332I	RCOR1_ENST00000570597.1_Missense_Mutation_p.T329I	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	329	Interaction with KDM1A.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GCCAATGCCACTGCTGCTACC	0.413													False	0	False	14:103180896	0	T	103180896	C	T	103180896	3	4	28	1	0	0	0	0	1	0	0	0	13261	565	20	2	1016	2	RCOR1	14	103180896	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	79669394	103180896	4168644	74	2330											
FBN1	2200	broad.mit.edu	37	chr15	48766481	48766481	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgaagccatcacctgtgtatCcttccttgcacagacagcgg	9	13	1	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:48766481C>G	ENST00000316623.5	-	34	4636	c.4181G>C	c.(4180-4182)gGa>gCa	p.G1394A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1394	EGF-like 23; calcium-binding.		Missing (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACCTGTGTATCCTTCCTTGCA	0.473													False	0	True	15:48766481	0	G	48766481	C	G	48766481	3	3	28	1	0	0	0	0	1	0	0	0	5742	855	30	5	4566	5	FBN1	15	48766481	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		48766481	53764911	75	2331											
CYP1A1	1543	broad.mit.edu	37	chr15	75014944	75014944	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttatcaggacctcagcctcCttgctcacatgctcttccag	6	16	4	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr15:75014944C>A	ENST00000379727.3	-	2	693	c.495G>T	c.(493-495)aaG>aaT	p.K165N	CYP1A1_ENST00000395048.2_Missense_Mutation_p.K165N|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Missense_Mutation_p.K165N|CYP1A1_ENST00000395049.4_Missense_Mutation_p.K165N			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	165					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CCTCAGCCTCCTTGCTCACAT	0.572									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				False	0	False	15:75014944	0	A	75014944	C	A	75014944	3	1	28	1	0	0	0	0	1	0	0	0	4174	680	24	3	1067	3	CYP1A1	15	75014944	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	26248463	75014944	27516448	76	2332											
HAGH	3029	broad.mit.edu	37	chr16	1869148	1869148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggggctccgagcctccgGgcttgctcacgaagtaacaa	13	13	1	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:1869148G>A	ENST00000397356.3	-	5	915	c.509C>T	c.(508-510)cCc>cTc	p.P170L	HAGH_ENST00000397353.2_Missense_Mutation_p.P122L|HAGH_ENST00000566709.1_Missense_Mutation_p.P122L|HAGH_ENST00000455446.2_Intron	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	170					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CGAGCCTCCGGGCTTGCTCAC	0.627													False	0	True	16:1869148	0	A	1869148	G	A	1869148	3	1	28	1	0	0	0	0	1	0	0	0	6992	1232	43	2	437	2	HAGH	16	1869148	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08		1869148	88485605	77	2333											
PRM1	5619	broad.mit.edu	37	chr16	11374992	11374992	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gggcccacttactcatggctCtcctccgtgtctggcagctc	10	16	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:11374992C>G	ENST00000312511.3	-	1	215	c.104G>C	c.(103-105)aGa>aCa	p.R35T	RMI2_ENST00000572173.1_Intron	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN	protamine 1	35					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		large_intestine(2)|skin(2)	4						ACTCATGGCTCTCCTCCGTGT	0.617													False	0	False	16:11374992	0	G	11374992	C	G	11374992	3	3	28	1	0	0	0	0	1	0	0	0	12608	913	32	5	59	5	PRM1	16	11374992	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	9505844	11374992	78979761	78	2334											
C16orf45	89927	broad.mit.edu	37	chr16	15677014	15677014	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tacccatctactttcacaggGagcaagaagaagacaaggaa	9	9	2	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:15677014G>C	ENST00000300006.4	+	5	780	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000452191.2_Splice_Site_p.E124Q|C16orf45_ENST00000561692.1_Splice_Site_p.E93Q|C16orf45_ENST00000566490.1_Intron	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	141										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						CTTTCACAGGGAGCAAGAAGA	0.378													False	0	True	16:15677014	0	C	15677014	G	C	15677014	5	2	28	1	0	0	0	0	0	0	1	0	1824	1188	41	5	498	5	C16orf45	16	15677014	Splice_Site	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	4302022	15677014	74677739	79	2335											
ABCC6	368	broad.mit.edu	37	chr16	16284067	16284068	+	Frame_Shift_Ins	INS	-	-	GG													cagcgacacagagaagaggaINSggccggaggtccgcaaggcg							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:16284067_16284068insGG	ENST00000205557.7	-	12	1617_1618	c.1588_1589insCC	c.(1588-1590)ctcfs	p.L530fs	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	530	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGAGAAGAGGAGGCCGGAGGTC	0.594													False	2	False	16:16284067	0	GG	16284068	-	GG	16284067	7	5	28	1	0	1	1	0	0	0	0	0	57	304	11	0	3002	0	ABCC6	16	16284067	Frame_Shift_Ins	INS	-	TCGA-3A-A9IZ-01A-12D-A40W-08	607053	16284067	74070686	80	2336											
CDR2	1039	broad.mit.edu	37	chr16	22385600	22385600	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cggctcgtcctccttcatctCaaactcctctaccaggtttt	5	16	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:22385600C>G	ENST00000268383.2	-	1	338	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	CDR2_ENST00000569045.1_Intron	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	11						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCCTTCATCTCAAACTCCTCT	0.736													False	0	True	16:22385600	0	G	22385600	C	G	22385600	3	3	28	1	0	0	0	0	1	0	0	0	3195	835	29	5	1353	5	CDR2	16	22385600	Missense_Mutation	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	6101533	22385600	67969153	81	2337											
PKD1L2	114780	broad.mit.edu	37	chr16	81232548	81232548	+	RNA	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatctccaggcggtgcctcCcagggcccatcagtttctgg	13	14	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr16:81232548C>G	ENST00000337114.4	-	0	1261				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCGGTGCCTCCCAGGGCCCAT	0.567													False	0	True	16:81232548	0	G	81232548	C	G	81232548	1	3	28	0	1	0	0	0	0	0	0	0	12034	623	22	5		5	PKD1L2	16	81232548	RNA	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	58846948	81232548	9122205	82	2338											
TP53	7157	broad.mit.edu	37	chr17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggttcatgccgcccatgcagGaactgttacacatgtagttg	11	10	1	0	rs28934573		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:7577559G>T	ENST00000420246.2	-	7	854	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572		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)			False	0	False	17:7577559	0	T	7577559	G	T	7577559	3	4	28	1	0	0	0	0	1	0	0	0	16464	1174	41	3	568	3	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08		7577559	73617651	83	2339											
PFAS	5198	broad.mit.edu	37	chr17	8170106	8170106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgaggagccaggcctcGtgctggaggtgcaggagcca	17	11	0	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:8170106G>A	ENST00000314666.6	+	23	2990	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M	PFAS_ENST00000545834.1_Missense_Mutation_p.V529M	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	953					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCAGGCCTCGTGCTGGAGGT	0.662													False	0	False	17:8170106	0	A	8170106	G	A	8170106	3	1	28	1	0	0	0	0	1	0	0	0	11823	1145	40	1	2943	1	PFAS	17	8170106	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	592547	8170106	73025104	84	2340											
STARD3	0	broad.mit.edu	37	chr17	37817295	37817295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatacttgtcatcagggatcGccacctcacacagtgccaag	9	13	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:37817295G>A	ENST00000336308.5	+	13	1314	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	STARD3_ENST00000394250.4_Missense_Mutation_p.A348T|STARD3_ENST00000580611.1_Missense_Mutation_p.A340T|STARD3_ENST00000544210.2_Missense_Mutation_p.A366T	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	366	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCAGGGATCGCCACCTCACA	0.617													False	0	False	17:37817295	0	A	37817295	G	A	37817295	3	1	28	1	0	0	0	0	1	0	0	0	15339	1087	38	1	1155	1	STARD3	17	37817295	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	29647189	37817295	43377915	85	2341											
SLC4A1	6521	broad.mit.edu	37	chr17	42336630	42336630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggaagcgtataggcacCggcagctccaccgcctccag	12	14	0	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:42336630C>T	ENST00000262418.6	-	9	932	c.777G>A	c.(775-777)ccG>ccA	p.P259P	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	259					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.P259P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTATAGGCACCGGCAGCTCCA	0.652													False	0	False	17:42336630	0	T	42336630	C	T	42336630	2	4	28	1	0	0	0	0	0	0	0	1	14730	639	23	1		1	SLC4A1	17	42336630	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08	4519335	42336630	38858580	86	2342											
COL1A1	1277	broad.mit.edu	37	chr17	48267045	48267062	+	In_Frame_Del	DEL	GGCCAGGAGGACCGACTC	GGCCAGGAGGACCGACTC	-													gctgcagagacttacagaggGgccaggaggaccgactcggc					rs72653149		TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	GGCCAGGAGGACCGACTC	GGCCAGGAGGACCGACTC	-	-	GGCCAGGAGGACCGACTC	GGCCAGGAGGACCGACTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:48267045_48267062delGGCCAGGAGGACCGACTC	ENST00000225964.5	-	38	2763_2780	c.2645_2662delGAGTCGGTCCTCCTGGCC	c.(2644-2664)cgagtcggtcctcctggcccc>ccc	p.RVGPPG882del		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	882	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTTACAGAGGGGCCAGGAGGACCGACTCGGCCAGCAGC	0.61			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						False	1	False	17:48267045	0	-	48267062	GGCCAGGAGGACCGACTC	-	48267045	7	5	28	1	0	1	0	1	0	0	0	0	3700	1232	43	0	1788	0	COL1A1	17	48267045	In_Frame_Del	DEL	GGCCAGGAGGACCGACTC	TCGA-3A-A9IZ-01A-12D-A40W-08	5930415	48267045	32928165	87	2343											
SDK2	54549	broad.mit.edu	37	chr17	71381998	71381998	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccatacctgccatcggatTagcacggaggtggtggtgtg	16	9	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr17:71381998T>A	ENST00000392650.3	-	32	4557	c.4557A>T	c.(4555-4557)ctA>ctT	p.L1519L	SDK2_ENST00000388726.3_Silent_p.L1519L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1519	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCATCGGATTAGCACGGAGG	0.647													False	0	False	17:71381998	0	A	71381998	T	A	71381998	2	1	28	1	0	0	0	0	0	0	0	1	14050	1741	61	5		5	SDK2	17	71381998	Silent	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08	23114953	71381998	9813212	88	2344											
DSG2	1829	broad.mit.edu	37	chr18	29116237	29116237	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacgacaactgtcccacacTgatagagcctgtgcagacaa	8	13	0	3			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr18:29116237T>G	ENST00000261590.8	+	11	1705	c.1496T>G	c.(1495-1497)cTg>cGg	p.L499R		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	499	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGTCCCACACTGATAGAGCCT	0.428													False	0	False	18:29116237	0	G	29116237	T	G	29116237	3	3	28	1	0	0	0	0	1	0	0	0	4807	1580	55	4	1538	4	DSG2	18	29116237	Missense_Mutation	SNP	T	TCGA-3A-A9IZ-01A-12D-A40W-08		29116237	48961011	89	2345											
VAV1	7409	broad.mit.edu	37	chr19	6829851	6829851	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtaagcgcaggggagactcCtatgacctcaaggactttgt	12	9	1	2			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:6829851C>G	ENST00000304076.2	+	14	1414	c.1320C>G	c.(1318-1320)tcC>tcG	p.S440S	VAV1_ENST00000596764.1_Silent_p.S408S|VAV1_ENST00000602142.1_Silent_p.S440S|VAV1_ENST00000539284.1_Silent_p.S343S|VAV1_ENST00000599806.1_Silent_p.S385S	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	440	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGGGAGACTCCTATGACCTCA	0.527													False	0	False	19:6829851	0	G	6829851	C	G	6829851	2	3	28	1	0	0	0	0	0	0	0	1	17215	668	24	5		5	VAV1	19	6829851	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		6829851	52299132	90	2346											
MUC16	94025	broad.mit.edu	37	chr19	9090465	9090513	+	Frame_Shift_Del	DEL	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	-													gggaccaaggtggcagtcatTtcggactcttctccaggagc							TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	-	-	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:9090465_9090513delTTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	ENST00000397910.4	-	1	1505_1553	c.1302_1350delTACATCTATGACTCCACTTGAGACCTCTGCTCCTGGAGAAGAGTCCGAA	c.(1300-1350)aatacatctatgactccacttgagacctctgctcctggagaagagtccgaafs	p.NTSMTPLETSAPGEESE434fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	434	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T435K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCAGTCATTTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTATTCAAAGTTC	0.486													False	1	False	19:9090465	0	-	9090513	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	-	9090465	7	5	28	1	0	1	0	1	0	0	0	0	10040	1838	64	0	42509	0	MUC16	19	9090465	Frame_Shift_Del	DEL	TTCGGACTCTTCTCCAGGAGCAGAGGTCTCAAGTGGAGTCATAGATGTA	TCGA-3A-A9IZ-01A-12D-A40W-08	2260614	9090465	50038518	91	2347											
FCGBP	8857	broad.mit.edu	37	chr19	40424379	40424379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatagttgccacacagcccGcacacctggtcttggaagcg	10	13	1	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:40424379G>A	ENST00000221347.6	-	4	1831	c.1824C>T	c.(1822-1824)tgC>tgT	p.C608C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	608	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACACAGCCCGCACACCTGGT	0.617													False	0	True	19:40424379	0	A	40424379	G	A	40424379	2	1	28	1	0	0	0	0	0	0	0	1	5818	1079	38	1		1	FCGBP	19	40424379	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	31333914	40424379	18704604	92	2348											
IZUMO1	284359	broad.mit.edu	37	chr19	49245529	49245529	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cagtttaactcacagtccagGatcatgtcttccatttgagg	8	10	3	1			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:49245529G>C	ENST00000332955.2	-	7	1084	c.537C>G	c.(535-537)atC>atG	p.I179M		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	179	Ig-like C2-type.				fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CACAGTCCAGGATCATGTCTT	0.478													False	0	False	19:49245529	0	C	49245529	G	C	49245529	3	2	28	1	0	0	0	0	1	0	0	0	7983	1164	41	5	531	5	IZUMO1	19	49245529	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	8821150	49245529	9883454	93	2349											
SHANK1	50944	broad.mit.edu	37	chr19	51200361	51200361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcctctcacctccctggGccaatcccatccattaagct	5	19	1	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr19:51200361G>A	ENST00000293441.1	-	14	1974	c.1956C>T	c.(1954-1956)ggC>ggT	p.G652G	SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391814.1_Silent_p.G652G	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	652					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTCCCTGGGCCAATCCCAT	0.647													False	0	True	19:51200361	0	A	51200361	G	A	51200361	2	1	28	1	0	0	0	0	0	0	0	1	14345	1190	42	2		2	SHANK1	19	51200361	Silent	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08	1954832	51200361	7928622	94	2350											
RBM12	10137	broad.mit.edu	37	chr20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaggtattcctgcactggGcattcccgcaccaggcagtc	10	14	0	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557													False	0	True	20:34241168	0	A	34241168	G	A	34241168	3	1	28	1	0	0	0	0	1	0	0	0	13192	1203	42	2	725	2	RBM12	20	34241168	Missense_Mutation	SNP	G	TCGA-3A-A9IZ-01A-12D-A40W-08		34241168	28784352	95	2351											
PHF21B	112885	broad.mit.edu	37	chr22	45309867	45309915	+	Frame_Shift_Del	DEL	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	-													aagatgccatggaggggtgaAggggacagtgatggggaggg					rs151004825	byFrequency	TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	-	-	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chr22:45309867_45309915delAGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	ENST00000313237.5	-	5	768_816	c.618_666delCCACCCCTCCTCTCTTCCCCTCACCCCTCCCTCCCCATCACTGTCCCCT	c.(616-666)ctccacccctcctctcttcccctcacccctccctccccatcactgtcccctfs	p.LHPSSLPLTPPSPSLSP206fs	PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000396103.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	206							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		ggaggggtgaaggggacagtgatggggagggaggggtgaggggaagagaggaggggtggaggggacagt	0.647													False	1	True	22:45309867	0	-	45309915	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	-	45309867	7	5	28	1	0	1	0	1	0	0	0	0	11903	59	3	0	965	0	PHF21B	22	45309867	Frame_Shift_Del	DEL	AGGGGACAGTGATGGGGAGGGAGGGGTGAGGGGAAGAGAGGAGGGGTGG	TCGA-3A-A9IZ-01A-12D-A40W-08		45309867	5994699	96	2352											
PNMA5	114824	broad.mit.edu	37	chrX	152159333	152159333	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgtgcacggctttctgCagcaggggctctaagcgcag	13	12	3	0			TCGA-3A-A9IZ-01A-12D-A40W-08	TCGA-3A-A9IZ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6baafe4a-8cdb-4775-8f5b-575d68e9d1ba	33790505-3f29-412f-ad68-7dbe0943b342	g.chrX:152159333C>G	ENST00000439251.1	-	2	1248	c.810G>C	c.(808-810)ctG>ctC	p.L270L	PNMA5_ENST00000535214.1_Silent_p.L270L|PNMA5_ENST00000452693.1_Silent_p.L270L|PNMA5_ENST00000361887.5_Silent_p.L270L	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	270					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCTTTCTGCAGCAGGGGCT	0.542													False	0	False	X:152159333	0	G	152159333	C	G	152159333	2	3	28	1	0	0	0	0	0	0	0	1	12225	697	25	5		5	PNMA5	23	152159333	Silent	SNP	C	TCGA-3A-A9IZ-01A-12D-A40W-08		152159333	3111227	97	2353											
PLOD1	5351	broad.mit.edu	37	chr1	12030859	12030859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacggagaagctctaccccGgctactacaccagggtgggc	13	13	1	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:12030859G>A	ENST00000196061.4	+	17	1915	c.1888G>A	c.(1888-1890)Ggc>Agc	p.G630S	PLOD1_ENST00000376369.3_Missense_Mutation_p.G677S	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	630					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCTCTACCCCGGCTACTACAC	0.607													False	0	True	1:12030859	0	A	12030859	G	A	12030859	3	1	29	1	0	0	0	0	1	0	0	0	12170	1116	39	1	1954	1	PLOD1	1	12030859	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		12030859	237219762	1	2354											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12908073	12908073	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgacaacaagagtgtTgagattcccaatgaacacac	7	9	1	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:12908073T>C	ENST00000317869.6	-	2	295	c.70A>G	c.(70-72)Aac>Gac	p.N24D		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACAAGAGTGTTGAGATTCCCA	0.453													False	0	False	1:12908073	0	C	12908073	T	C	12908073	3	2	29	1	0	0	0	0	1	0	0	0	7310	1812	63	4	813	4	HNRNPCL1	1	12908073	Missense_Mutation	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	877214	12908073	236342548	2	2355											
CSMD2	114784	broad.mit.edu	37	chr1	34092119	34092119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaagcctctggctggtgCgaggcctttggcgctgaact	16	10	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:34092119C>T	ENST00000373381.4	-	33	5439	c.5263G>A	c.(5263-5265)Gca>Aca	p.A1755T	CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.A628T|CSMD2_ENST00000373388.2_5'UTR	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1715	Sushi 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGGCTGGTGCGAGGCCTTTG	0.542													False	0	False	1:34092119	0	T	34092119	C	T	34092119	3	4	29	1	0	0	0	0	1	0	0	0	3970	768	27	1	5468	1	CSMD2	1	34092119	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	21184046	34092119	215158502	3	2356											
HIVEP3	59269	broad.mit.edu	37	chr1	41976495	41976495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaggcctgcccgggcctCcgccggtcctctccctctcc	11	21	2	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:41976495C>T	ENST00000372584.1	-	8	7859	c.6845G>A	c.(6844-6846)gGa>gAa	p.G2282E	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2283E|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G2283E|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2282E	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2283					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCCGGGCCTCCGCCGGTCCT	0.682													False	0	False	1:41976495	0	T	41976495	C	T	41976495	3	4	29	1	0	0	0	0	1	0	0	0	7235	855	30	2	376	2	HIVEP3	1	41976495	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	7884376	41976495	207274126	4	2357											
SSX2IP	117178	broad.mit.edu	37	chr1	85124124	85124124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctctctgcttagttcccCggcatcttcttcaacatcgg	6	15	5	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:85124124C>T	ENST00000437941.2	-	8	1226	c.874G>A	c.(874-876)Ggg>Agg	p.G292R	SSX2IP_ENST00000605755.1_Missense_Mutation_p.G292R|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000342203.3_Missense_Mutation_p.G319R|SSX2IP_ENST00000370612.4_Missense_Mutation_p.G319R	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	319					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTAGTTCCCCGGCATCTTCT	0.438													False	0	True	1:85124124	0	T	85124124	C	T	85124124	3	4	29	1	0	0	0	0	1	0	0	0	15286	652	23	1	913	1	SSX2IP	1	85124124	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	43147629	85124124	164126497	5	2358											
HSD3B1	3283	broad.mit.edu	37	chr1	120057235	120057235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggttcccttgtggaccgGcacaaggagaccctgaagtc	13	11	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:120057235G>A	ENST00000235547.6	+	4	1234	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	HSD3B1_ENST00000528909.1_Silent_p.R363R|HSD3B1_ENST00000369413.3_Silent_p.R363R	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	363					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TTGTGGACCGGCACAAGGAGA	0.517													False	0	False	1:120057235	0	A	120057235	G	A	120057235	2	1	29	1	0	0	0	0	0	0	0	1	7437	1190	42	2		2	HSD3B1	1	120057235	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	34933111	120057235	129193386	6	2359											
NBPF10	100132406	broad.mit.edu	37	chr1	145324377	145324377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgctggaggtagtagCgcctgaagtcttgcaggact	16	8	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:145324377C>A	ENST00000342960.5	+	28	3607	c.3572C>A	c.(3571-3573)gCg>gAg	p.A1191E	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1191										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGGTAGTAGCGCCTGAAGTC	0.483													False	0	False	1:145324377	0	A	145324377	C	A	145324377	3	1	29	1	0	0	0	0	1	0	0	0	10260	768	27	3	3682	3	NBPF10	1	145324377	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	25267142	145324377	103926244	7	2360											
S100A3	6274	broad.mit.edu	37	chr1	153520200	153520200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggggcagtccttgaagtaCtcgtggcagtagagacagag	16	7	0	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:153520200C>A	ENST00000368713.3	-	3	460	c.264G>T	c.(262-264)gaG>gaT	p.E88D	S100A4_ENST00000368714.1_Intron|S100A3_ENST00000368712.1_Missense_Mutation_p.E88D	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	88							calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTGAAGTACTCGTGGCAGT	0.597													False	0	False	1:153520200	0	A	153520200	C	A	153520200	3	1	29	1	0	0	0	0	1	0	0	0	13858	564	20	3	45	3	S100A3	1	153520200	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	8195823	153520200	95730421	8	2361											
UBQLN4	56893	broad.mit.edu	37	chr1	156012004	156012004	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagttgggggttccccgcGaagagcggcacattcaccat	13	12	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:156012004G>A	ENST00000368309.3	-	8	1382	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	430						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGTTCCCCGCGAAGAGCGGCA	0.617													False	0	False	1:156012004	0	A	156012004	G	A	156012004	2	1	29	1	0	0	0	0	0	0	0	1	16983	1049	37	1		1	UBQLN4	1	156012004	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	2491804	156012004	93238617	9	2362											
NUF2	83540	broad.mit.edu	37	chr1	163317716	163317716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgttaagcaatacaaacGcacagtaattgagtatggag	10	5	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:163317716G>A	ENST00000271452.3	+	12	1391	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	NUF2_ENST00000524800.1_Missense_Mutation_p.R324H|NUF2_ENST00000367900.3_Missense_Mutation_p.R371H	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	371	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.R371H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CAATACAAACGCACAGTAATT	0.318													False	0	False	1:163317716	0	A	163317716	G	A	163317716	3	1	29	1	0	0	0	0	1	0	0	0	10815	1087	38	1	1154	1	NUF2	1	163317716	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	7305712	163317716	85932905	10	2363											
HMCN1	83872	broad.mit.edu	37	chr1	186030997	186030997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggaggcaggatgctaCggctgatgcagaccacaatg	14	10	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:186030997C>T	ENST00000271588.4	+	47	7556	c.7327C>T	c.(7327-7329)Cgg>Tgg	p.R2443W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R2443W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2443	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGGATGCTACGGCTGATGCA	0.398													False	0	False	1:186030997	0	T	186030997	C	T	186030997	3	4	29	1	0	0	0	0	1	0	0	0	7267	527	19	1	7513	1	HMCN1	1	186030997	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	22713281	186030997	63219624	11	2364											
ASPM	259266	broad.mit.edu	37	chr1	197072286	197072286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttctcactttcataccaCgataagctgactgtaaagtt	5	9	2	1	rs149033840		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:197072286C>T	ENST00000367409.4	-	18	6351	c.6095G>A	c.(6094-6096)cGt>cAt	p.R2032H	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2032	IQ 14.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTCATACCACGATAAGCTGA	0.333													False	0	False	1:197072286	0	T	197072286	C	T	197072286	3	4	29	1	0	0	0	0	1	0	0	0	1060	536	19	1	4382	1	ASPM	1	197072286	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	11041289	197072286	52178335	12	2365											
DISP1	84976	broad.mit.edu	37	chr1	223175862	223175862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaatagttgagcgagacGtttctcataccttgaagctg	10	7	1	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:223175862G>A	ENST00000284476.6	+	8	1287	c.1123G>A	c.(1123-1125)Gtt>Att	p.V375I		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	375					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGAGCGAGACGTTTCTCATAC	0.527											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:223175862	0	A	223175862	G	A	223175862	3	1	29	1	0	0	0	0	1	0	0	0	4569	1145	40	1	1149	1	DISP1	1	223175862	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	26103576	223175862	26074759	13	2366											
CDC42BPA	8476	broad.mit.edu	37	chr1	227223274	227223274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaagtggttggagctttGtttacacaagttatatggca	12	5	0	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:227223274G>A	ENST00000366769.3	-	24	4420	c.3129C>T	c.(3127-3129)aaC>aaT	p.N1043N	CDC42BPA_ENST00000366765.3_Silent_p.N1056N|CDC42BPA_ENST00000366767.3_Silent_p.N962N|CDC42BPA_ENST00000366764.2_Silent_p.N1015N|CDC42BPA_ENST00000366766.2_Silent_p.N1078N|CDC42BPA_ENST00000535525.1_Silent_p.N1023N|CDC42BPA_ENST00000334218.5_Silent_p.N1043N	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1056					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTGGAGCTTTGTTTACACAAG	0.373													False	0	True	1:227223274	0	A	227223274	G	A	227223274	2	1	29	1	0	0	0	0	0	0	0	1	3095	1368	48	2		2	CDC42BPA	1	227223274	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	4047412	227223274	22027347	14	2367											
WNT3A	89780	broad.mit.edu	37	chr1	228246856	228246856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagcaccgggagtcccGcggctgggtggagaccctgc	18	12	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:228246856G>A	ENST00000284523.1	+	4	827	c.749G>A	c.(748-750)cGc>cAc	p.R250H	WNT3A_ENST00000366753.2_Missense_Mutation_p.R250H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	250					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CGGGAGTCCCGCGGCTGGGTG	0.657													False	0	True	1:228246856	0	A	228246856	G	A	228246856	3	1	29	1	0	0	0	0	1	0	0	0	17473	1087	38	1	763	1	WNT3A	1	228246856	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	1023582	228246856	21003765	15	2368											
OR2M4	26245	broad.mit.edu	37	chr1	248402386	248402386	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttctcctcatctacatagaGaaacagctccacacccccat	4	16	3	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:248402386G>T	ENST00000306687.1	+	1	156	c.156G>T	c.(154-156)gaG>gaT	p.E52D		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACATAGAGAAACAGCTCC	0.478													False	0	True	1:248402386	0	T	248402386	G	T	248402386	3	4	29	1	0	0	0	0	1	0	0	0	11080	933	33	3	158	3	OR2M4	1	248402386	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	20155530	248402386	848235	16	2369											
ANKRD36B	57730	broad.mit.edu	37	chr2	98205990	98205991	+	RNA	INS	-	-	TCC													ctcccggcccccattaccttINStccttcctgtctctcttatt							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:98205990_98205991insTCC	ENST00000443455.1	-	0	336_337							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CCCATTACCTTTCCTTCCTGTC	0.579													False	1	True	2:98205990	0	TCC	98205991	-	TCC	98205990	6	5	29	0	1	1	1	0	0	0	0	0	666	1838	64	0		0	ANKRD36B	2	98205990	RNA	INS	-	TCGA-3A-A9J0-01A-11D-A40W-08		98205990	144993383	17	2370											
GCC2	9648	broad.mit.edu	37	chr2	109092224	109092224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagacccagactgtgaaggAagaacttgaatctcttcgat	9	9	1	5			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:109092224A>G	ENST00000309863.6	+	9	3692	c.2978A>G	c.(2977-2979)gAa>gGa	p.E993G		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	993					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTGTGAAGGAAGAACTTGAA	0.313													False	0	True	2:109092224	0	G	109092224	A	G	109092224	3	3	29	1	0	0	0	0	1	0	0	0	6329	246	9	4	3012	4	GCC2	2	109092224	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	10886234	109092224	134107149	18	2371											
CKAP2L	150468	broad.mit.edu	37	chr2	113514074	113514074	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgactactggtttctttgAtgactgaactttactaaggg	9	7	1	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:113514074A>G	ENST00000541405.1	-	4	902	c.379T>C	c.(379-381)Tca>Cca	p.S127P	CKAP2L_ENST00000302450.6_Missense_Mutation_p.S292P			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	292						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GGTTTCTTTGATGACTGAACT	0.403													False	0	False	2:113514074	0	G	113514074	A	G	113514074	3	3	29	1	0	0	0	0	1	0	0	0	3466	333	12	4	1387	4	CKAP2L	2	113514074	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	4421850	113514074	129685299	19	2372											
GPR39	2863	broad.mit.edu	37	chr2	133402714	133402714	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gccgtatgctggatgcccaaCcagattcggaggatcatggc	13	11	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:133402714C>G	ENST00000329321.3	+	2	1366	c.897C>G	c.(895-897)aaC>aaG	p.N299K	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	299						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATGCCCAACCAGATTCGGA	0.547													False	0	False	2:133402714	0	G	133402714	C	G	133402714	3	3	29	1	0	0	0	0	1	0	0	0	6739	506	18	5	903	5	GPR39	2	133402714	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	19888640	133402714	109796659	20	2373											
ERBB4	2066	broad.mit.edu	37	chr2	212589855	212589855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcacattctcgatggcaGcagtcactgacgtaaggtcc	10	13	2	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:212589855G>A	ENST00000342788.4	-	6	997	c.687C>T	c.(685-687)tgC>tgT	p.C229C	ERBB4_ENST00000402597.1_Silent_p.C229C|ERBB4_ENST00000436443.1_Silent_p.C229C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	229	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTCGATGGCAGCAGTCACTGA	0.483										TSP Lung(8;0.080)			False	0	False	2:212589855	0	A	212589855	G	A	212589855	2	1	29	1	0	0	0	0	0	0	0	1	5241	963	34	2		2	ERBB4	2	212589855	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	79187141	212589855	30609518	21	2374											
ABCB6	10058	broad.mit.edu	37	chr2	220080843	220080843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgagcagctccacccGccgagacgtgaactgctgca	12	13	0	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:220080843G>A	ENST00000265316.3	-	5	1346	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	ABCB6_ENST00000439002.2_Missense_Mutation_p.R298W	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	344	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTCCACCCGCCGAGACGTG	0.687													False	0	True	2:220080843	0	A	220080843	G	A	220080843	3	1	29	1	0	0	0	0	1	0	0	0	45	1086	38	1	1558	1	ABCB6	2	220080843	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	7490988	220080843	23118530	22	2375											
LRRFIP1	9208	broad.mit.edu	37	chr2	238671269	238671269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccagtgaagtggaggtgAaaaatgaaatcgtggcgaat	15	4	0	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:238671269A>G	ENST00000244815.5	+	10	1081	c.841A>G	c.(841-843)Aaa>Gaa	p.K281E	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.K249E|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.K305E	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	305					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGTGGAGGTGAAAAATGAAAT	0.433													False	0	True	2:238671269	0	G	238671269	A	G	238671269	3	3	29	1	0	0	0	0	1	0	0	0	9089	247	9	4	1631	4	LRRFIP1	2	238671269	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	18590426	238671269	4528104	23	2376											
KIF1A	547	broad.mit.edu	37	chr2	241697827	241697827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagaaggggtctccgccGgtcaccacgttgtcacagtc	11	13	4	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:241697827G>A	ENST00000498729.2	-	26	2778	c.2532C>T	c.(2530-2532)acC>acT	p.T844T	KIF1A_ENST00000320389.7_Silent_p.T835T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	835					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.T835T(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTCTCCGCCGGTCACCACGT	0.637													False	0	False	2:241697827	0	A	241697827	G	A	241697827	2	1	29	1	0	0	0	0	0	0	0	1	8333	1103	39	1		1	KIF1A	2	241697827	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	3026558	241697827	1501546	24	2377											
PASK	23178	broad.mit.edu	37	chr2	242065640	242065640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccatctcgatggtagcagCtcccggagtaggcaccctcc	11	15	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:242065640C>T	ENST00000403638.3	-	10	2781	c.2690G>A	c.(2689-2691)aGc>aAc	p.S897N	PASK_ENST00000405260.1_Missense_Mutation_p.S897N|PASK_ENST00000358649.4_Missense_Mutation_p.S897N|PASK_ENST00000234040.4_Missense_Mutation_p.S897N|PASK_ENST00000544142.1_Missense_Mutation_p.S711N|PASK_ENST00000539818.1_Missense_Mutation_p.S681N	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	897					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ATGGTAGCAGCTCCCGGAGTA	0.647													False	0	False	2:242065640	0	T	242065640	C	T	242065640	3	4	29	1	0	0	0	0	1	0	0	0	11540	797	28	2	1317	2	PASK	2	242065640	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	367813	242065640	1133733	25	2378											
ITPR1	3708	broad.mit.edu	37	chr3	4718357	4718357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgacccaggtggtgctcCggggaggaggctttttgccc	16	10	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:4718357C>T	ENST00000354582.6	+	24	3189	c.2839C>T	c.(2839-2841)Cgg>Tgg	p.R947W	ITPR1_ENST00000357086.4_Missense_Mutation_p.R938W|ITPR1_ENST00000443694.2_Missense_Mutation_p.R932W|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.R923W|ITPR1_ENST00000302640.8_Missense_Mutation_p.R932W|ITPR1_ENST00000423119.2_Missense_Mutation_p.R938W			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	947					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGTGGTGCTCCGGGGAGGAGG	0.562													False	0	True	3:4718357	0	T	4718357	C	T	4718357	3	4	29	1	0	0	0	0	1	0	0	0	7970	643	23	1	2925	1	ITPR1	3	4718357	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		4718357	193304073	26	2379											
STAC	6769	broad.mit.edu	37	chr3	36547239	36547239	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttttattttctctttcaggGatctctttccaaagacccat	4	11	3	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:36547239G>A	ENST00000273183.3	+	8	1133	c.833G>A	c.(832-834)gGa>gAa	p.G278E	STAC_ENST00000457375.2_Splice_Site_p.G217E|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	278					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						ctctttcAGGGATCTCTTTCC	0.338													False	0	True	3:36547239	0	A	36547239	G	A	36547239	5	1	29	1	0	0	0	0	0	0	1	0	15321	1188	41	2	863	2	STAC	3	36547239	Splice_Site	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	31828882	36547239	161475191	27	2380											
DCLK3	85443	broad.mit.edu	37	chr3	36779648	36779648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcatacattgggcccTtccccatatccagctcactg	5	17	2	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:36779648T>C	ENST00000416516.2	-	2	993	c.503A>G	c.(502-504)aAg>aGg	p.K168R		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	168						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CATTGGGCCCTTCCCCATATC	0.567													False	0	True	3:36779648	0	C	36779648	T	C	36779648	3	2	29	1	0	0	0	0	1	0	0	0	4318	1609	56	4	1459	4	DCLK3	3	36779648	Missense_Mutation	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	232409	36779648	161242782	28	2381											
CTNNB1	1499	broad.mit.edu	37	chr3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccactaccacagctcctTctctgagtggtaaaggcaat	9	12	1	1	rs121913407		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:41266136T>C	ENST00000349496.5	+	3	413	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CACAGCTCCTTCTCTGAGTGG	0.502		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				False	0	False	3:41266136	0	C	41266136	T	C	41266136	3	2	29	1	0	0	0	0	1	0	0	0	4041	1783	62	4	139	4	CTNNB1	3	41266136	Missense_Mutation	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	4486488	41266136	156756294	29	2382											
ALS2CL	259173	broad.mit.edu	37	chr3	46728567	46728567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcctggcccagcgatgcgCccaccgagccctctgagctc	13	18	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:46728567C>T	ENST00000318962.4	-	5	523	c.440G>A	c.(439-441)gGc>gAc	p.G147D	ALS2CL_ENST00000415953.1_Missense_Mutation_p.G147D	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	147					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CAGCGATGCGCCCACCGAGCC	0.677													False	0	True	3:46728567	0	T	46728567	C	T	46728567	3	4	29	1	0	0	0	0	1	0	0	0	551	739	26	2	2509	2	ALS2CL	3	46728567	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	5462431	46728567	151293863	30	2383											
MYH15	22989	broad.mit.edu	37	chr3	108172884	108172884	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcttctggaatttgattcGcatcagtttgccctgtgctc	8	10	3	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:108172884G>A	ENST00000273353.3	-	22	2484	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	810	IQ.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AATTTGATTCGCATCAGTTTG	0.448													False	0	False	3:108172884	0	A	108172884	G	A	108172884	4	1	29	1	0	0	0	0	0	1	0	0	10101	1095	38	1	3496	1	MYH15	3	108172884	Nonsense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	61444317	108172884	89849546	31	2384											
TBCCD1	55171	broad.mit.edu	37	chr3	186276243	186276243	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttttcagtcaggtcaggaGactgagatttgtttctggga	12	5	4	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:186276243G>A	ENST00000424280.1	-	3	934	c.455C>T	c.(454-456)tCt>tTt	p.S152F	TBCCD1_ENST00000338733.5_Missense_Mutation_p.S152F|TBCCD1_ENST00000446782.1_Missense_Mutation_p.S56F	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	152					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CAGGTCAGGAGACTGAGATTT	0.403													False	0	False	3:186276243	0	A	186276243	G	A	186276243	3	1	29	1	0	0	0	0	1	0	0	0	15714	942	33	2	1238	2	TBCCD1	3	186276243	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	78103359	186276243	11746187	32	2385											
RFC4	5984	broad.mit.edu	37	chr3	186518951	186518951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcactgcaaccacttcttcCtggaaagcaacttcatccac	5	15	2	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:186518951C>T	ENST00000392481.2	-	3	446	c.165G>A	c.(163-165)caG>caA	p.Q55Q	RFC4_ENST00000433496.1_Silent_p.Q55Q|RFC4_ENST00000296273.2_Silent_p.Q55Q	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	55					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CCACTTCTTCCTGGAAAGCAA	0.383													False	0	False	3:186518951	0	T	186518951	C	T	186518951	2	4	29	1	0	0	0	0	0	0	0	1	13326	680	24	2		2	RFC4	3	186518951	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	242708	186518951	11503479	33	2386											
HSD17B13	345275	broad.mit.edu	37	chr4	88243945	88243945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaacgactccaagtaggAgtagatgatggtgatcagaa	11	8	1	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:88243945A>G	ENST00000328546.4	-	1	113	c.49T>C	c.(49-51)Tcc>Ccc	p.S17P	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Missense_Mutation_p.S17P	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	17						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TCCAAGTAGGAGTAGATGATG	0.468													False	0	False	4:88243945	0	G	88243945	A	G	88243945	3	3	29	1	0	0	0	0	1	0	0	0	7429	304	11	4	881	4	HSD17B13	4	88243945	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08		88243945	102910331	34	2387											
ANKRD50	57182	broad.mit.edu	37	chr4	125599951	125599952	+	Frame_Shift_Ins	INS	-	-	A													acagtcccagataagctggtINSagacgtttgttcaccttcag							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:125599951_125599952insA	ENST00000504087.1	-	3	1658_1659	c.621_622insT	c.(619-624)tctaccfs	p.T208fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.T29fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	208										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GATAAGCTGGTAGACGTTTGTT	0.475													False	1	False	4:125599951	0	A	125599952	-	A	125599951	7	5	29	1	0	1	1	0	0	0	0	0	677	1638	57	0	3675	0	ANKRD50	4	125599951	Frame_Shift_Ins	INS	-	TCGA-3A-A9J0-01A-11D-A40W-08	37356006	125599951	65554325	35	2388											
DCLK2	166614	broad.mit.edu	37	chr4	151160950	151160950	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggagactttgggcttgcGactgtggtagaaggcccttt	15	8	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:151160950G>A	ENST00000296550.7	+	11	2377	c.1623G>A	c.(1621-1623)gcG>gcA	p.A541A	DCLK2_ENST00000302176.8_Silent_p.A558A|DCLK2_ENST00000506325.1_Silent_p.A540A	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	541	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTGGGCTTGCGACTGTGGTAG	0.458													False	0	False	4:151160950	0	A	151160950	G	A	151160950	2	1	29	1	0	0	0	0	0	0	0	1	4317	1045	37	1		1	DCLK2	4	151160950	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	25560999	151160950	39993326	36	2389											
FAT1	2195	broad.mit.edu	37	chr4	187510158	187510158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgattgctgaattcgggcGgtaacggtggtagctcatca	13	8	2	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:187510158G>A	ENST00000441802.2	-	27	13564	c.13355C>T	c.(13354-13356)cCg>cTg	p.P4452L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4452					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAATTCGGGCGGTAACGGTGG	0.537										HNSCC(5;0.00058)			False	0	False	4:187510158	0	A	187510158	G	A	187510158	3	1	29	1	0	0	0	0	1	0	0	0	5729	1116	39	1	415	1	FAT1	4	187510158	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	36349208	187510158	3644118	37	2390											
MAP1B	4131	broad.mit.edu	37	chr5	71494871	71494871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcttatgagaagaccaccCggacctcagatgtgggtggc	13	10	2	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:71494871C>T	ENST00000296755.7	+	5	5987	c.5689C>T	c.(5689-5691)Cgg>Tgg	p.R1897W		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1897						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAGACCACCCGGACCTCAGA	0.453													False	0	True	5:71494871	0	T	71494871	C	T	71494871	3	4	29	1	0	0	0	0	1	0	0	0	9295	643	23	1	5707	1	MAP1B	5	71494871	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		71494871	109420389	38	2391											
MAP1B	4131	broad.mit.edu	37	chr5	71495084	71495084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagaccaccagcccccccGaagtgagtggttacagctat	9	13	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:71495084G>A	ENST00000296755.7	+	5	6200	c.5902G>A	c.(5902-5904)Gaa>Aaa	p.E1968K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1968						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGCCCCCCCGAAGTGAGTGG	0.478													False	0	True	5:71495084	0	A	71495084	G	A	71495084	3	1	29	1	0	0	0	0	1	0	0	0	9295	1059	37	1	5920	1	MAP1B	5	71495084	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	213	71495084	109420176	39	2392											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	29	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-3A-A9J0-01A-11D-A40W-08	7115360	78610444	102304816	40	2393											
ADAMTS19	171019	broad.mit.edu	37	chr5	128863477	128863477	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacaagagtctgagtgtgCaggtcaatcttcgtgtgata	11	7	3	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:128863477C>T	ENST00000274487.4	+	5	1250	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	369	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCTGAGTGTGCAGGTCAATCT	0.299													False	0	False	5:128863477	0	T	128863477	C	T	128863477	4	4	29	1	0	0	0	0	0	1	0	0	264	711	25	2	1123	2	ADAMTS19	5	128863477	Nonsense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	50253033	128863477	52051783	41	2394											
PCDHB7	0	broad.mit.edu	37	chr5	140552501	140552501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatgtcttgggctggcgccGaaccgcttcggtattttgtg	14	9	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:140552501G>A	ENST00000231137.3	+	1	259	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		29					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGGCGCCGAACCGCTTCG	0.517													False	0	False	5:140552501	0	A	140552501	G	A	140552501	3	1	29	1	0	0	0	0	1	0	0	0	11615	1059	37	1	87	1	PCDHB7	5	140552501	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	11689024	140552501	40362759	42	2395											
TNXB	7148	broad.mit.edu	37	chr6	32063700	32063700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggtggcacaggtagggcCggtgtagcctgggtcgcaca	19	10	0	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:32063700C>T	ENST00000375244.3	-	3	2131	c.1930G>A	c.(1930-1932)Ggc>Agc	p.G644S	TNXB_ENST00000375247.2_Missense_Mutation_p.G644S|TNXB_ENST00000479795.1_Missense_Mutation_p.G644S			P22105	TENX_HUMAN	tenascin XB	644	EGF-like 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGTAGGGCCGGTGTAGCCT	0.687													False	0	False	6:32063700	0	T	32063700	C	T	32063700	3	4	29	1	0	0	0	0	1	0	0	0	16428	652	23	1	12951	1	TNXB	6	32063700	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		32063700	139051367	43	2396											
PRSS35	167681	broad.mit.edu	37	chr6	84233890	84233890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccggggtcagaggattgccGaagggaggccttcctttcag	16	10	2	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:84233890G>A	ENST00000536636.1	+	3	1075	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	PRSS35_ENST00000369700.3_Missense_Mutation_p.E244K	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	244	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GAGGATTGCCGAAGGGAGGCC	0.567													False	0	False	6:84233890	0	A	84233890	G	A	84233890	3	1	29	1	0	0	0	0	1	0	0	0	12700	1059	37	1	732	1	PRSS35	6	84233890	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	52170190	84233890	86881177	44	2397											
EPHA7	2045	broad.mit.edu	37	chr6	93956606	93956606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaattttggcctttcagcaCgctccttttgccaacaatcc	5	14	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:93956606C>T	ENST00000369303.4	-	15	2814	c.2630G>A	c.(2629-2631)cGt>cAt	p.R877H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	877	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R877L(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTTTCAGCACGCTCCTTTTG	0.423													False	0	False	6:93956606	0	T	93956606	C	T	93956606	3	4	29	1	0	0	0	0	1	0	0	0	5204	536	19	1	378	1	EPHA7	6	93956606	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	9722716	93956606	77158461	45	2398											
LAMA4	3910	broad.mit.edu	37	chr6	112496518	112496518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaggaatacacctacgttCgtaagcctcatctgcctcct	8	13	2	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:112496518C>T	ENST00000230538.7	-	11	1751	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	LAMA4_ENST00000424408.2_Missense_Mutation_p.E445K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E445K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E445K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	452	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACCTACGTTCGTAAGCCTCA	0.483													False	0	False	6:112496518	0	T	112496518	C	T	112496518	3	4	29	1	0	0	0	0	1	0	0	0	8659	893	31	1	4233	1	LAMA4	6	112496518	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	18539912	112496518	58618549	46	2399											
IFNGR1	3459	broad.mit.edu	37	chr6	137524778	137524778	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcgctaactggcactgaatCtcgtcacaatcatcttcctt	5	13	4	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:137524778C>A	ENST00000367739.4	-	5	712	c.591G>T	c.(589-591)gaG>gaT	p.E197D	IFNGR1_ENST00000543628.1_Missense_Mutation_p.E169D|IFNGR1_ENST00000367735.2_3'UTR	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	197					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GGCACTGAATCTCGTCACAAT	0.378													False	0	False	6:137524778	0	A	137524778	C	A	137524778	3	1	29	1	0	0	0	0	1	0	0	0	7599	912	32	3	890	3	IFNGR1	6	137524778	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	25028260	137524778	33590289	47	2400											
LPA	4018	broad.mit.edu	37	chr6	161006101	161006101	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggatagtataatgggatCctccgatgccaatgtggtgt	12	6	0	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:161006101C>T	ENST00000447678.1	-	27	4386	c.4266G>A	c.(4264-4266)agG>agA	p.R1422R	LPA_ENST00000316300.5_Silent_p.R1422R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3930	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.R1422S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAATGGGATCCTCCGATGCC	0.443													False	0	False	6:161006101	0	T	161006101	C	T	161006101	2	4	29	1	0	0	0	0	0	0	0	1	8965	854	30	2		2	LPA	6	161006101	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	23481323	161006101	10108966	48	2401											
GLI3	2737	broad.mit.edu	37	chr7	42018305	42018305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtccagccacctgcacaCgaactccttcttctctccat	5	18	2	0	rs148502119		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:42018305C>T	ENST00000395925.3	-	11	1624	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	514					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CACCTGCACACGAACTCCTTC	0.443									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	False	7:42018305	0	T	42018305	C	T	42018305	3	4	29	1	0	0	0	0	1	0	0	0	6484	536	19	1	3222	1	GLI3	7	42018305	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		42018305	117120358	49	2402											
ADCY1	107	broad.mit.edu	37	chr7	45699701	45699701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggactacgaggtagaaccGggttacggacatgagaggaa	17	6	0	2	rs149589767		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:45699701G>A	ENST00000297323.7	+	7	1390	c.1368G>A	c.(1366-1368)ccG>ccA	p.P456P	ADCY1_ENST00000432715.1_Silent_p.P231P	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	456			P -> L (in dbSNP:rs12721473).		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGGTAGAACCGGGTTACGGAC	0.507													False	0	True	7:45699701	0	A	45699701	G	A	45699701	2	1	29	1	0	0	0	0	0	0	0	1	292	1103	39	1		1	ADCY1	7	45699701	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	3681396	45699701	113438962	50	2403											
WBSCR17	64409	broad.mit.edu	37	chr7	71142270	71142270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacagcaatattgtatccGtgccatggctggggaccaca	10	12	0	0	rs145007893		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:71142270G>A	ENST00000333538.5	+	9	2113	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	493	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TATTGTATCCGTGCCATGGCT	0.537													False	0	False	7:71142270	0	A	71142270	G	A	71142270	2	1	29	1	0	0	0	0	0	0	0	1	17348	1132	40	1		1	WBSCR17	7	71142270	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	25442569	71142270	87996393	51	2404											
OR2A14	135941	broad.mit.edu	37	chr7	143826573	143826573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcctatgatcgctatgCggacatctgccaccccttac	8	14	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:143826573C>T	ENST00000408899.2	+	1	423	c.368C>T	c.(367-369)gCg>gTg	p.A123V		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GATCGCTATGCGGACATCTGC	0.493													False	0	False	7:143826573	0	T	143826573	C	T	143826573	3	4	29	1	0	0	0	0	1	0	0	0	11044	768	27	1	370	1	OR2A14	7	143826573	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	72684303	143826573	15312090	52	2405											
NUB1	51667	broad.mit.edu	37	chr7	151072988	151072988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgattccaatcctgaaaccGacaaccgtcaagaaagtcct	6	12	1	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:151072988G>A	ENST00000568733.1	+	13	1588	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N	NUB1_ENST00000355851.4_Missense_Mutation_p.D484N|NUB1_ENST00000413040.2_Missense_Mutation_p.D494N|NUB1_ENST00000566856.1_Missense_Mutation_p.D470N			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	484	UBA 3.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCCTGAAACCGACAACCGTCA	0.493													False	0	False	7:151072988	0	A	151072988	G	A	151072988	3	1	29	1	0	0	0	0	1	0	0	0	10782	1058	37	1	1454	1	NUB1	7	151072988	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	7246415	151072988	8065675	53	2406											
LMBR1	64327	broad.mit.edu	37	chr7	156520649	156520649	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttggcattgctgttTcatcaaccaataggcaaaga	7	9	2	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:156520649T>C	ENST00000353442.5	-	12	1204	c.968A>G	c.(967-969)gAa>gGa	p.E323G	LMBR1_ENST00000540390.1_Missense_Mutation_p.E302G|LMBR1_ENST00000359422.4_Missense_Mutation_p.E171G|LMBR1_ENST00000354505.4_Missense_Mutation_p.E364G	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1							integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CATTGCTGTTTCATCAACCAA	0.363													False	0	True	7:156520649	0	C	156520649	T	C	156520649	3	2	29	1	0	0	0	0	1	0	0	0	8893	1783	62	4	528	4	LMBR1	7	156520649	Missense_Mutation	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	5447661	156520649	2618014	54	2407											
LZTS1	11178	broad.mit.edu	37	chr8	20107374	20107374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgctggtacatggccacGtagctctgctgcagctgttt	11	12	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr8:20107374G>A	ENST00000381569.1	-	4	2007	c.1650C>T	c.(1648-1650)taC>taT	p.Y550Y	LZTS1_ENST00000522290.1_Silent_p.Y491Y|LZTS1_ENST00000265801.6_Silent_p.Y550Y			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	550					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ACATGGCCACGTAGCTCTGCT	0.627													False	0	False	8:20107374	0	A	20107374	G	A	20107374	2	1	29	1	0	0	0	0	0	0	0	1	9201	1140	40	1		1	LZTS1	8	20107374	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		20107374	126256648	55	2408											
TEK	7010	broad.mit.edu	37	chr9	27158047	27158047	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaaagttgtttggaagagaGaaaaggctagtaagatcaat	11	2	1	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr9:27158047G>T	ENST00000380036.4	+	2	713	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	TEK_ENST00000406359.4_Nonsense_Mutation_p.E91*|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	91	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTGGAAGAGAGAAAAGGCTAG	0.448													False	0	True	9:27158047	0	T	27158047	G	T	27158047	4	4	29	1	0	0	0	0	0	1	0	0	15833	943	33	3	277	3	TEK	9	27158047	Nonsense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		27158047	114055384	56	2409											
TRPM6	140803	broad.mit.edu	37	chr9	77376995	77376995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcgaagggcctgtatctgCggagaggattgatccaaaag	14	7	1	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr9:77376995C>T	ENST00000451710.3	-	26	4829	c.4592G>A	c.(4591-4593)cGc>cAc	p.R1531H	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526H|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531H|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1531H			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1531					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCTGTATCTGCGGAGAGGATT	0.418													False	0	False	9:77376995	0	T	77376995	C	T	77376995	3	4	29	1	0	0	0	0	1	0	0	0	16673	768	27	1	1532	1	TRPM6	9	77376995	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	50218948	77376995	63836436	57	2410											
C9orf89	84270	broad.mit.edu	37	chr9	95869990	95869990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgcctggtgcaggacacGcctttcctgacaggccatgg	13	14	0	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr9:95869990G>A	ENST00000375464.2	+	2	170	c.42G>A	c.(40-42)acG>acA	p.T14T		NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	14	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TGCAGGACACGCCTTTCCTGA	0.562													False	0	False	9:95869990	0	A	95869990	G	A	95869990	2	1	29	1	0	0	0	0	0	0	0	1	2523	1074	38	1		1	C9orf89	9	95869990	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	18492995	95869990	45343441	58	2411											
IL2RA	3559	broad.mit.edu	37	chr10	6063598	6063598	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaaccatctgccccaccacGaaatgataaattctctctgt	4	13	3	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr10:6063598G>A	ENST00000379959.3	-	4	599	c.426C>T	c.(424-426)ttC>ttT	p.F142F	IL2RA_ENST00000379954.1_Intron|IL2RA_ENST00000256876.6_Silent_p.F142F	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	142	Sushi 2.				cell proliferation	integral to membrane	interleukin-2 receptor activity	p.F142F(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCCACCACGAAATGATAAA	0.512													False	0	True	10:6063598	0	A	6063598	G	A	6063598	2	1	29	1	0	0	0	0	0	0	0	1	7736	1049	37	1		1	IL2RA	10	6063598	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		6063598	129471149	59	2412											
ARHGAP21	57584	broad.mit.edu	37	chr10	24959236	24959236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatgttcttttcaacgTaactgttttgggacctggcc	10	8	2	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr10:24959236T>G	ENST00000396432.2	-	3	640	c.154A>C	c.(154-156)Acg>Ccg	p.T52P		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	51	PDZ.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTTTTCAACGTAACTGTTTTG	0.343													False	0	False	10:24959236	0	G	24959236	T	G	24959236	3	3	29	1	0	0	0	0	1	0	0	0	873	1638	57	4	5818	4	ARHGAP21	10	24959236	Missense_Mutation	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	18895638	24959236	110575511	60	2413											
CPXM2	119587	broad.mit.edu	37	chr10	125557591	125557591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcgggccaccatggggaCgggtagctcattgagaacag	16	9	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr10:125557591C>T	ENST00000241305.3	-	6	944	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	264	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACCATGGGGACGGGTAGCTCA	0.483													False	0	True	10:125557591	0	T	125557591	C	T	125557591	3	4	29	1	0	0	0	0	1	0	0	0	3861	536	19	1	1516	1	CPXM2	10	125557591	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	100598355	125557591	9977156	61	2414											
FAR1	84188	broad.mit.edu	37	chr11	13749183	13749183	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaactaagaagtacgtattGaatgaagaaatgtctggcct	11	5	1	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:13749183G>T	ENST00000532502.1	+	2	2038	c.210G>T	c.(208-210)ttG>ttT	p.L70F	FAR1_ENST00000354817.3_Missense_Mutation_p.L446F			Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	446					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						AGTACGTATTGAATGAAGAAA	0.373													False	0	True	11:13749183	0	T	13749183	G	T	13749183	3	4	29	1	0	0	0	0	1	0	0	0	5714	1281	45	3	1376	3	FAR1	11	13749183	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		13749183	121257333	62	2415											
UVRAG	7405	broad.mit.edu	37	chr11	75851957	75851957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcccagcctgtgaccaccGtcccctccatgggagagacc	10	17	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:75851957G>A	ENST00000356136.3	+	15	1841	c.1600G>A	c.(1600-1602)Gtc>Atc	p.V534I	UVRAG_ENST00000528420.1_Missense_Mutation_p.V433I|UVRAG_ENST00000531818.1_Missense_Mutation_p.V162I|UVRAG_ENST00000533454.1_Missense_Mutation_p.V162I|UVRAG_ENST00000539288.1_Missense_Mutation_p.V162I|UVRAG_ENST00000538870.1_Missense_Mutation_p.V90I|UVRAG_ENST00000532130.1_Missense_Mutation_p.V162I	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	534					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TGTGACCACCGTCCCCTCCAT	0.493													False	0	False	11:75851957	0	A	75851957	G	A	75851957	3	1	29	1	0	0	0	0	1	0	0	0	17192	1145	40	1	1658	1	UVRAG	11	75851957	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	62102774	75851957	59154559	63	2416											
MCAM	4162	broad.mit.edu	37	chr11	119182565	119182565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggttcaggccgggtatgCtgggcacagacgccacgcag	16	12	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:119182565C>T	ENST00000392814.1	-	5	1814	c.1085G>A	c.(1084-1086)aGc>aAc	p.S362N	MCAM_ENST00000264036.4_Missense_Mutation_p.S413N			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	413	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCCGGGTATGCTGGGCACAGA	0.617													False	0	False	11:119182565	0	T	119182565	C	T	119182565	3	4	29	1	0	0	0	0	1	0	0	0	9435	797	28	2	730	2	MCAM	11	119182565	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	43330608	119182565	15823951	64	2417											
PKNOX2	63876	broad.mit.edu	37	chr11	125281736	125281736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgccaccaatataatgcGttcttggctcttccagcatc	7	13	2	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:125281736G>A	ENST00000298282.9	+	10	1182	c.911G>A	c.(910-912)cGt>cAt	p.R304H	PKNOX2_ENST00000542175.1_Missense_Mutation_p.R240H|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	304						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AATATAATGCGTTCTTGGCTC	0.517													False	0	False	11:125281736	0	A	125281736	G	A	125281736	3	1	29	1	0	0	0	0	1	0	0	0	12052	1145	40	1	937	1	PKNOX2	11	125281736	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	6099171	125281736	9724780	65	2418											
APLP2	334	broad.mit.edu	37	chr11	129993656	129993656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgaggattattgtatgGctgtgtgtaaagcgatgagt	14	3	1	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:129993656G>A	ENST00000263574.5	+	7	1144	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T	APLP2_ENST00000278756.7_Missense_Mutation_p.A368T|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000543137.1_Missense_Mutation_p.A265T|APLP2_ENST00000338167.5_Missense_Mutation_p.A358T|APLP2_ENST00000528499.1_Intron	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	358	BPTI/Kunitz inhibitor.				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TTATTGTATGGCTGTGTGTAA	0.562													False	0	False	11:129993656	0	A	129993656	G	A	129993656	3	1	29	1	0	0	0	0	1	0	0	0	781	1203	42	2	1098	2	APLP2	11	129993656	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	4711920	129993656	5012860	66	2419											
FGD4	121512	broad.mit.edu	37	chr12	32754273	32754273	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttccagcagagatggtgaAtaaaatcttttctaatattt	7	5	2	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:32754273A>G	ENST00000427716.2	+	6	1176	c.752A>G	c.(751-753)aAt>aGt	p.N251S	FGD4_ENST00000534526.2_Missense_Mutation_p.N388S|FGD4_ENST00000531134.1_Missense_Mutation_p.N336S|FGD4_ENST00000546442.1_Missense_Mutation_p.N158S|FGD4_ENST00000525053.1_Missense_Mutation_p.N363S|FGD4_ENST00000266482.3_Missense_Mutation_p.N3S|FGD4_ENST00000381025.3_Missense_Mutation_p.N3S	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	251	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GAGATGGTGAATAAAATCTTT	0.348													False	0	False	12:32754273	0	G	32754273	A	G	32754273	3	3	29	1	0	0	0	0	1	0	0	0	5875	101	4	4	766	4	FGD4	12	32754273	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08		32754273	101097622	67	2420											
ULK1	8408	broad.mit.edu	37	chr12	132396530	132396530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagaccctggcctcccCggctgacaccgctggcttcc	11	18	0	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:132396530C>T	ENST00000321867.4	+	13	1343	c.992C>T	c.(991-993)cCg>cTg	p.P331L		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	331	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTGGCCTCCCCGGCTGACACC	0.632													False	0	True	12:132396530	0	T	132396530	C	T	132396530	3	4	29	1	0	0	0	0	1	0	0	0	17059	652	23	1	1042	1	ULK1	12	132396530	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	99642257	132396530	1455365	68	2421											
ZNF605	100289635	broad.mit.edu	37	chr12	133502024	133502024	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttgaaggtggtcccacactCattgcatccatagtatttat	8	9	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:133502024C>G	ENST00000360187.4	-	5	2209	c.1861G>C	c.(1861-1863)Gag>Cag	p.E621Q	ZNF605_ENST00000392321.3_Missense_Mutation_p.E652Q	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		GTCCCACACTCATTGCATCCA	0.383													False	0	False	12:133502024	0	G	133502024	C	G	133502024	3	3	29	1	0	0	0	0	1	0	0	0	18114	835	29	5	68	5	ZNF605	12	133502024	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	1105494	133502024	349871	69	2422											
RNF17	56163	broad.mit.edu	37	chr13	25444786	25444786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatgatagtggagtcagCggggaatcagaatccgagag	15	6	2	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:25444786C>T	ENST00000255324.5	+	32	4408	c.4356C>T	c.(4354-4356)agC>agT	p.S1452S	RNF17_ENST00000339524.3_Silent_p.S462S|RNF17_ENST00000381921.1_Silent_p.S1410S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1452					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTGGAGTCAGCGGGGAATCAG	0.438													False	0	True	13:25444786	0	T	25444786	C	T	25444786	2	4	29	1	0	0	0	0	0	0	0	1	13540	767	27	1		1	RNF17	13	25444786	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		25444786	89725092	70	2423											
KL	9365	broad.mit.edu	37	chr13	33635841	33635841	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacataatatccaatggaatCgatgacgggctgcatgctga	10	8	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:33635841C>T	ENST00000380099.3	+	4	2633	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	875	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCAATGGAATCGATGACGGGC	0.517													False	0	False	13:33635841	0	T	33635841	C	T	33635841	2	4	29	1	0	0	0	0	0	0	0	1	8381	874	31	1		1	KL	13	33635841	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	8191055	33635841	81534037	71	2424											
CPB2	1361	broad.mit.edu	37	chr13	46638808	46638808	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtgtttggaagcaaagttCctattcaggtctgttccgat	10	8	2	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:46638808C>T	ENST00000181383.4	-	8	787	c.771G>A	c.(769-771)agG>agA	p.R257R	CPB2_ENST00000439329.3_Silent_p.R220R|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	257					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		AAGCAAAGTTCCTATTCAGGT	0.413													False	0	False	13:46638808	0	T	46638808	C	T	46638808	2	4	29	1	0	0	0	0	0	0	0	1	3820	854	30	2		2	CPB2	13	46638808	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	13002967	46638808	68531070	72	2425											
PCDH8	5100	broad.mit.edu	37	chr13	53420319	53420319	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggccagcacgatgatgacGatcagcggcgtgtcccattg	13	13	1	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:53420319G>A	ENST00000377942.3	-	1	2456	c.2253C>T	c.(2251-2253)atC>atT	p.I751I	PCDH8_ENST00000338862.4_Silent_p.I751I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	751					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGATGATGACGATCAGCGGCG	0.701													False	0	False	13:53420319	0	A	53420319	G	A	53420319	2	1	29	1	0	0	0	0	0	0	0	1	11585	1048	37	1		1	PCDH8	13	53420319	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	6781511	53420319	61749559	73	2426											
SLAIN1	122060	broad.mit.edu	37	chr13	78293775	78293775	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcctgagatggaagcagcGagacgttccctgtgctttag	12	10	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:78293775G>A	ENST00000466548.1	+	3	695	c.669G>A	c.(667-669)gcG>gcA	p.A223A	SLAIN1_ENST00000418532.1_Silent_p.A4A|SLAIN1_ENST00000267219.8_Silent_p.A4A|SLAIN1_ENST00000488699.1_Silent_p.A81A	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	223										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TGGAAGCAGCGAGACGTTCCC	0.468													False	0	False	13:78293775	0	A	78293775	G	A	78293775	2	1	29	1	0	0	0	0	0	0	0	1	14446	1045	37	1		1	SLAIN1	13	78293775	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	24873456	78293775	36876103	74	2427											
ZIC2	7546	broad.mit.edu	37	chr13	100637726	100637726	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggcagcggcggcggcGgctgcggcggcggcggccgc	24	15	0	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:100637726G>T	ENST00000376335.3	+	3	1682	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	463	Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cggcggcggcggctgcggcgg	0.816													False	0	True	13:100637726	0	T	100637726	G	T	100637726	2	4	29	1	0	0	0	0	0	0	0	1	17762	1103	39	3		3	ZIC2	13	100637726	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	22343951	100637726	14532152	75	2428											
FERMT2	10979	broad.mit.edu	37	chr14	53386031	53386031	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcagaagccaagttctcttCttttcccaccagagagcatg	7	12	3	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr14:53386031C>T	ENST00000395631.2	-	3	417	c.201G>A	c.(199-201)aaG>aaA	p.K67K	FERMT2_ENST00000553373.1_Silent_p.K67K|FERMT2_ENST00000399304.3_Silent_p.K67K|FERMT2_ENST00000343279.4_Silent_p.K67K|FERMT2_ENST00000341590.3_Silent_p.K67K			Q96AC1	FERM2_HUMAN	fermitin family member 2	67					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AAGTTCTCTTCTTTTCCCACC	0.393													False	0	True	14:53386031	0	T	53386031	C	T	53386031	2	4	29	1	0	0	0	0	0	0	0	1	5858	912	32	2		2	FERMT2	14	53386031	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		53386031	53963509	76	2429											
WDR89	112840	broad.mit.edu	37	chr14	64066609	64066609	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtgggctctttggttcctaAggaacatttaacaatgtgca	10	7	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr14:64066609A>T	ENST00000394942.2	-	2	140	c.52T>A	c.(52-54)Tta>Ata	p.L18I	WDR89_ENST00000267522.3_Missense_Mutation_p.L18I	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	18										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TTGGTTCCTAAGGAACATTTA	0.368													False	0	False	14:64066609	0	T	64066609	A	T	64066609	3	4	29	1	0	0	0	0	1	0	0	0	17420	69	3	5	1115	5	WDR89	14	64066609	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	10680578	64066609	43282931	77	2430											
RYR3	6263	broad.mit.edu	37	chr15	34130031	34130031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagaaggccatggaaggGcaaaaacagtacacgcagtc	11	10	0	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:34130031G>A	ENST00000389232.4	+	89	11920	c.11850G>A	c.(11848-11850)ggG>ggA	p.G3950G	RYR3_ENST00000415757.3_Silent_p.G3945G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3950	EF-hand.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G3949G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGGAAGGGCAAAAACAGT	0.408													False	0	True	15:34130031	0	A	34130031	G	A	34130031	2	1	29	1	0	0	0	0	0	0	0	1	13849	1190	42	2		2	RYR3	15	34130031	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		34130031	68401361	78	2431											
MYO5C	55930	broad.mit.edu	37	chr15	52534277	52534277	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccttgccaggaatcctcGgctgtaggcctgcattgtga	11	13	0	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:52534277G>A	ENST00000261839.7	-	20	2685	c.2524C>T	c.(2524-2526)Cga>Tga	p.R842*	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	842	IQ 4.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGGAATCCTCGGCTGTAGGCC	0.542													False	0	False	15:52534277	0	A	52534277	G	A	52534277	4	1	29	1	0	0	0	0	0	1	0	0	10147	1124	39	1	2792	1	MYO5C	15	52534277	Nonsense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	18404246	52534277	49997115	79	2432											
UNC13C	440279	broad.mit.edu	37	chr15	54825264	54825264	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggattttttggacaaaaCgtaagtttttttgcccagtt	8	5	0	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:54825264C>T	ENST00000545554.1	+	25	5696	c.5696C>T	c.(5695-5697)aCa>aTa	p.T1899I	UNC13C_ENST00000260323.11_Splice_Site_p.T1899I|UNC13C_ENST00000537900.1_Splice_Site_p.T1897I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1899	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGGACAAAACGTAAGTTTTT	0.338													False	0	True	15:54825264	0	T	54825264	C	T	54825264	5	4	29	1	0	0	0	0	0	0	1	0	17070	550	19	1	5790	1	UNC13C	15	54825264	Splice_Site	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	2290987	54825264	47706128	80	2433											
CIB2	10518	broad.mit.edu	37	chr15	78401612	78401612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catagtttgccttgagctctCggggagccgactcgcagagc	13	12	1	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:78401612C>T	ENST00000258930.3	-	4	639	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	CIB2_ENST00000539011.1_Missense_Mutation_p.R61Q|CIB2_ENST00000557846.1_Missense_Mutation_p.R55Q|CIB2_ENST00000560618.1_Missense_Mutation_p.R61Q	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	104	EF-hand 2.						calcium ion binding	p.R104Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CTTGAGCTCTCGGGGAGCCGA	0.552													False	0	True	15:78401612	0	T	78401612	C	T	78401612	3	4	29	1	0	0	0	0	1	0	0	0	3444	884	31	1	264	1	CIB2	15	78401612	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	23576348	78401612	24129780	81	2434											
RGMA	56963	broad.mit.edu	37	chr15	93588701	93588701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcctctggcatgcggaCggcaaaggtcaggtagcggc	14	12	2	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:93588701C>T	ENST00000329082.7	-	4	1151	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	RGMA_ENST00000542321.2_Missense_Mutation_p.V278I|RGMA_ENST00000557301.1_Missense_Mutation_p.V302I|RGMA_ENST00000556658.1_Missense_Mutation_p.V185I|RGMA_ENST00000425933.2_Missense_Mutation_p.V278I|RGMA_ENST00000543599.1_Missense_Mutation_p.V278I|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000538818.1_Missense_Mutation_p.V185I	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	294					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GGCATGCGGACGGCAAAGGTC	0.622													False	0	False	15:93588701	0	T	93588701	C	T	93588701	3	4	29	1	0	0	0	0	1	0	0	0	13359	536	19	1	476	1	RGMA	15	93588701	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	15187089	93588701	8942691	82	2435											
WDR90	197335	broad.mit.edu	37	chr16	708985	708985	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcaggggacgccgtcttcctCtgggatgtcctggcccctac	13	15	2	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:708985C>G	ENST00000549091.1	+	24	3077	c.2985C>G	c.(2983-2985)ctC>ctG	p.L995L	WDR90_ENST00000293879.4_Silent_p.L995L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	995										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCGTCTTCCTCTGGGATGTCC	0.642													False	0	False	16:708985	0	G	708985	C	G	708985	2	3	29	1	0	0	0	0	0	0	0	1	17421	900	32	5		5	WDR90	16	708985	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		708985	89645768	83	2436											
CACNA1H	8912	broad.mit.edu	37	chr16	1246017	1246017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctccgcgccatcaaccgcGtgcctagtaagtgaccggcc	10	18	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:1246017G>A	ENST00000348261.5	+	5	885	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V213M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V213M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	213					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CATCAACCGCGTGCCTAGTAA	0.652													False	0	False	16:1246017	0	A	1246017	G	A	1246017	3	1	29	1	0	0	0	0	1	0	0	0	2565	1145	40	1	651	1	CACNA1H	16	1246017	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	537032	1246017	89108736	84	2437											
USP31	57478	broad.mit.edu	37	chr16	23119457	23119457	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaactcctgggcatcAtgttgggaatttccccggta	11	10	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:23119457A>G	ENST00000219689.7	-	2	680	c.681T>C	c.(679-681)caT>caC	p.H227H		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	227					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CCTGGGCATCATGTTGGGAAT	0.478													False	0	False	16:23119457	0	G	23119457	A	G	23119457	2	3	29	1	0	0	0	0	0	0	0	1	17146	214	8	4		4	USP31	16	23119457	Silent	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	21873440	23119457	67235296	85	2438											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251421	25251421	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aactctccggtgggcgctgaAatgagaactgttggtgaaac	13	8	1	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:25251421A>C	ENST00000328086.7	-	7	3423	c.2620T>G	c.(2620-2622)Ttc>Gtc	p.F874V		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	874					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGGGCGCTGAAATGAGAACTG	0.458													False	0	True	16:25251421	0	C	25251421	A	C	25251421	3	2	29	1	0	0	0	0	1	0	0	0	17770	14	1	4	287	4	ZKSCAN2	16	25251421	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	2131964	25251421	65103332	86	2439											
ATXN2L	11273	broad.mit.edu	37	chr16	28841228	28841228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttcgtcagcgagagctgCgtgcggcccagttggctcga	15	11	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:28841228C>T	ENST00000336783.4	+	8	1050	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	ATXN2L_ENST00000395547.2_Missense_Mutation_p.R295C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R295C|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R295C|ATXN2L_ENST00000570200.1_Missense_Mutation_p.R295C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R295C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R295C	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	295						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCGAGAGCTGCGTGCGGCCCA	0.577													False	0	True	16:28841228	0	T	28841228	C	T	28841228	3	4	29	1	0	0	0	0	1	0	0	0	1216	768	27	1	913	1	ATXN2L	16	28841228	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	3589807	28841228	61513525	87	2440											
KIF22	3835	broad.mit.edu	37	chr16	29814108	29814108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccccctacagaagctaagCagcatggacccggccatgct	10	15	0	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:29814108C>A	ENST00000561482.1	+	9	1732	c.1095C>A	c.(1093-1095)agC>agA	p.S365R	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.S365R|KIF22_ENST00000160827.4_Missense_Mutation_p.S433R|KIF22_ENST00000400751.5_Missense_Mutation_p.S365R	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	433					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGAAGCTAAGCAGCATGGACC	0.617													False	0	False	16:29814108	0	A	29814108	C	A	29814108	3	1	29	1	0	0	0	0	1	0	0	0	8340	709	25	3	1333	3	KIF22	16	29814108	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	972880	29814108	60540645	88	2441											
SEPT1	1731	broad.mit.edu	37	chr16	30393182	30393182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacgccccggcgctcaatGgccagggtctgtgtcaagcg	13	14	4	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:30393182G>A	ENST00000321367.3	-	5	390	c.345C>T	c.(343-345)gcC>gcT	p.A115A	SEPT1_ENST00000605106.1_Silent_p.A73A|SEPT1_ENST00000571393.1_Silent_p.A68A	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	68					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GGCGCTCAATGGCCAGGGTCT	0.562													False	0	False	16:30393182	0	A	30393182	G	A	30393182	2	1	29	1	0	0	0	0	0	0	0	1	14140	1335	47	2		2	SEPT1	16	30393182	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	579074	30393182	59961571	89	2442											
ABCC12	94160	broad.mit.edu	37	chr16	48174686	48174686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttcaaccggatggccGtgcggtagttgatggcccag	13	13	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:48174686G>A	ENST00000311303.3	-	4	914	c.569C>T	c.(568-570)aCg>aTg	p.T190M	ABCC12_ENST00000416054.1_Missense_Mutation_p.T190M|ABCC12_ENST00000448542.1_Missense_Mutation_p.T190M	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	190	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCGGATGGCCGTGCGGTAGTT	0.532													False	0	False	16:48174686	0	A	48174686	G	A	48174686	3	1	29	1	0	0	0	0	1	0	0	0	52	1145	40	1	3614	1	ABCC12	16	48174686	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	17781504	48174686	42180067	90	2443											
SLC12A3	0	broad.mit.edu	37	chr16	56904081	56904081	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcggcctcattttcgctttCgccaatgccgtgggtgtggc	12	12	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:56904081C>T	ENST00000438926.2	+	5	704	c.675C>T	c.(673-675)ttC>ttT	p.F225F	SLC12A3_ENST00000262502.5_Silent_p.F224F|SLC12A3_ENST00000566786.1_Silent_p.F224F|SLC12A3_ENST00000563236.1_Silent_p.F225F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	225					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTTTCGCTTTCGCCAATGCCG	0.647													False	0	True	16:56904081	0	T	56904081	C	T	56904081	2	4	29	1	0	0	0	0	0	0	0	1	14465	883	31	1		1	SLC12A3	16	56904081	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	8729395	56904081	33450672	91	2444											
DHX38	9785	broad.mit.edu	37	chr16	72132878	72132878	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccaactccctcctacAaatataacgagtgggccgat	7	14	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:72132878A>T	ENST00000268482.3	+	6	1326	c.817A>T	c.(817-819)Aaa>Taa	p.K273*	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	273					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCTCCTACAAATATAACGA	0.592													False	0	True	16:72132878	0	T	72132878	A	T	72132878	4	4	29	1	0	0	0	0	0	1	0	0	4541	131	5	5	835	5	DHX38	16	72132878	Nonsense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	15228797	72132878	18221875	92	2445											
SPATA2L	124044	broad.mit.edu	37	chr16	89764252	89764252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcctgtaggccagctcCgccgggggcgagtcagggcc	19	13	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:89764252C>T	ENST00000289805.5	-	3	833	c.765G>A	c.(763-765)gcG>gcA	p.A255A	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	255										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGCCAGCTCCGCCGGGGGCG	0.701													False	0	False	16:89764252	0	T	89764252	C	T	89764252	2	4	29	1	0	0	0	0	0	0	0	1	15091	639	23	1		1	SPATA2L	16	89764252	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	17631374	89764252	590501	93	2446											
SCARF1	8578	broad.mit.edu	37	chr17	1538332	1538332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagggctgccctttttcCgattcagggcctggcgcgga	15	13	1	0	rs147642060	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:1538332C>T	ENST00000263071.4	-	11	2262	c.2213G>A	c.(2212-2214)cGg>cAg	p.R738Q	SCARF1_ENST00000348987.3_Missense_Mutation_p.R652Q|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	738	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCTTTTTCCGATTCAGGGC	0.632													False	0	False	17:1538332	0	T	1538332	C	T	1538332	3	4	29	1	0	0	0	0	1	0	0	0	13963	652	23	1	283	1	SCARF1	17	1538332	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		1538332	79656878	94	2447											
TP53	7157	broad.mit.edu	37	chr17	7578370	7578370	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagccccagctgctcaCcatcgctatctgagcagcgc	8	18	3	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:7578370C>T	ENST00000420246.2	-	5	692		c.e5+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCTGCTCACCATCGCTATC	0.632		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)			False	0	False	17:7578370	0	T	7578370	C	T	7578370	5	4	29	1	0	0	0	0	0	0	1	0	16464	521	18	2	738	2	TP53	17	7578370	Splice_Site	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	6040038	7578370	73616840	95	2448											
ERBB2	2064	broad.mit.edu	37	chr17	37863277	37863277	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacatgaagctgcggctcccTgccagtcccgagacccacct	10	17	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:37863277T>A	ENST00000406381.2	+	4	528	c.18T>A	c.(16-18)ccT>ccA	p.P6P	ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540147.1_Silent_p.P6P|ERBB2_ENST00000584601.1_Silent_p.P6P|ERBB2_ENST00000578199.1_Silent_p.P6P|ERBB2_ENST00000269571.5_Silent_p.P36P|ERBB2_ENST00000584450.1_Silent_p.P36P|ERBB2_ENST00000541774.1_Silent_p.P21P|ERBB2_ENST00000540042.1_Silent_p.P6P	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	36					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGCGGCTCCCTGCCAGTCCCG	0.642		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			False	0	True	17:37863277	0	A	37863277	T	A	37863277	2	1	29	1	0	0	0	0	0	0	0	1	5238	1567	55	5		5	ERBB2	17	37863277	Silent	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	30284907	37863277	43331933	96	2449											
LIPG	9388	broad.mit.edu	37	chr18	47110141	47110141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtctggggaaacccagcGgaagtaagtgcctcctgctc	13	11	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:47110141G>A	ENST00000261292.4	+	8	1651	c.1373G>A	c.(1372-1374)cGg>cAg	p.R458Q	LIPG_ENST00000427224.2_Missense_Mutation_p.R384Q	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	458	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GAAACCCAGCGGAAGTAAGTG	0.562													False	0	False	18:47110141	0	A	47110141	G	A	47110141	3	1	29	1	0	0	0	0	1	0	0	0	8876	1116	39	1	1403	1	LIPG	18	47110141	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		47110141	30967107	97	2450											
TCF4	6925	broad.mit.edu	37	chr18	52899837	52899837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcaggttctcatcaccctCgtcatcggatttgatctcag	8	12	4	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:52899837C>T	ENST00000354452.3	-	17	2163	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	TCF4_ENST00000561992.1_Missense_Mutation_p.E388K|TCF4_ENST00000568740.1_Missense_Mutation_p.E493K|TCF4_ENST00000566286.1_Missense_Mutation_p.E515K|TCF4_ENST00000457482.3_Missense_Mutation_p.E358K|TCF4_ENST00000565018.2_Missense_Mutation_p.E518K|TCF4_ENST00000570177.2_Missense_Mutation_p.E388K|TCF4_ENST00000356073.4_Missense_Mutation_p.E518K|TCF4_ENST00000537578.1_Missense_Mutation_p.E494K|TCF4_ENST00000540999.1_Missense_Mutation_p.E494K|TCF4_ENST00000544241.2_Missense_Mutation_p.E447K|TCF4_ENST00000566279.1_Missense_Mutation_p.E458K|TCF4_ENST00000561831.3_Missense_Mutation_p.E358K|TCF4_ENST00000543082.1_Missense_Mutation_p.E476K|TCF4_ENST00000567880.1_Missense_Mutation_p.E458K|TCF4_ENST00000537856.3_Missense_Mutation_p.E388K|TCF4_ENST00000564228.1_Missense_Mutation_p.E447K|TCF4_ENST00000564403.2_Missense_Mutation_p.E524K|TCF4_ENST00000398339.1_Missense_Mutation_p.E620K|TCF4_ENST00000568673.1_Missense_Mutation_p.E494K|TCF4_ENST00000564999.1_Missense_Mutation_p.E518K|TCF4_ENST00000570287.2_Missense_Mutation_p.E358K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	518					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCATCACCCTCGTCATCGGAT	0.468													False	0	False	18:52899837	0	T	52899837	C	T	52899837	3	4	29	1	0	0	0	0	1	0	0	0	15777	893	31	1	475	1	TCF4	18	52899837	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	5789696	52899837	25177411	98	2451											
KIAA1468	57614	broad.mit.edu	37	chr18	59912054	59912054	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcctgagcctaaagagcgaGatcagcttctccacatactt	7	12	2	3			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:59912054G>A	ENST00000256858.6	+	11	1926	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	KIAA1468_ENST00000398130.2_Missense_Mutation_p.D560N			Q9P260	K1468_HUMAN	KIAA1468	560							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TAAAGAGCGAGATCAGCTTCT	0.378													False	0	False	18:59912054	0	A	59912054	G	A	59912054	3	1	29	1	0	0	0	0	1	0	0	0	8286	942	33	2	1720	2	KIAA1468	18	59912054	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	7012217	59912054	18165194	99	2452											
PHLPP1	23239	broad.mit.edu	37	chr18	60563163	60563163	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgactgctgtggataaacTttgtatgtctggaaactgtg	11	5	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:60563163T>G	ENST00000400316.4	+	6	2608	c.827T>G	c.(826-828)cTt>cGt	p.L276R	PHLPP1_ENST00000262719.5_Missense_Mutation_p.L788R	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	788					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						GTGGATAAACTTTGTATGTCT	0.383													False	0	True	18:60563163	0	G	60563163	T	G	60563163	3	3	29	1	0	0	0	0	1	0	0	0	11923	1609	56	4	2385	4	PHLPP1	18	60563163	Missense_Mutation	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	651109	60563163	17514085	100	2453											
FBN3	84467	broad.mit.edu	37	chr19	8180474	8180474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggaacccttcgtgttctCgcagtccccatggaggcaga	11	12	1	1	rs146523311		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:8180474C>T	ENST00000600128.1	-	30	4177	c.3763G>A	c.(3763-3765)Gag>Aag	p.E1255K	FBN3_ENST00000270509.2_Missense_Mutation_p.E1255K|FBN3_ENST00000601739.1_Missense_Mutation_p.E1255K			Q75N90	FBN3_HUMAN	fibrillin 3	1255	EGF-like 18; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTCGTGTTCTCGCAGTCCCCA	0.607													False	0	False	19:8180474	0	T	8180474	C	T	8180474	3	4	29	1	0	0	0	0	1	0	0	0	5744	893	31	1	4806	1	FBN3	19	8180474	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		8180474	50948509	101	2454											
OR7G1	125962	broad.mit.edu	37	chr19	9225729	9225729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagccacaggtggaaaaCgctttatactttcctcttgc	8	11	1	1	rs138779373	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:9225729C>T	ENST00000293614.1	-	1	710	c.711G>A	c.(709-711)gcG>gcA	p.A237A	OR7G1_ENST00000541538.1_Silent_p.A237A			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AGGTGGAAAACGCTTTATACT	0.418													False	0	True	19:9225729	0	T	9225729	C	T	9225729	2	4	29	1	0	0	0	0	0	0	0	1	11290	523	19	1		1	OR7G1	19	9225729	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	1045255	9225729	49903254	102	2455											
ZNF562	54811	broad.mit.edu	37	chr19	9764114	9764114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttagtgaaggatttcccacaGttcttagtcttttcggattt	8	7	2	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:9764114G>T	ENST00000448622.1	-	6	954	c.792C>A	c.(790-792)aaC>aaA	p.N264K	ZNF562_ENST00000453792.2_Missense_Mutation_p.N195K|ZNF562_ENST00000537617.1_Missense_Mutation_p.N148K|ZNF562_ENST00000453372.2_Missense_Mutation_p.N264K|ZNF562_ENST00000541032.1_Missense_Mutation_p.N227K|ZNF562_ENST00000590155.1_Missense_Mutation_p.N263K|ZNF562_ENST00000293648.4_Missense_Mutation_p.N192K	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						ATTTCCCACAGTTCTTAGTCT	0.378													False	0	False	19:9764114	0	T	9764114	G	T	9764114	3	4	29	1	0	0	0	0	1	0	0	0	18076	1020	36	3	492	3	ZNF562	19	9764114	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	538385	9764114	49364869	103	2456											
ZNF181	339318	broad.mit.edu	37	chr19	35232318	35232318	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacatctaagaattcatacTcaagaaaaactctatgagtg	6	7	4	3	rs2607243		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:35232318T>G	ENST00000392232.3	+	6	1332	c.1164T>G	c.(1162-1164)acT>acG	p.T388T	ZNF181_ENST00000459757.2_Silent_p.T343T|ZNF181_ENST00000492450.1_Silent_p.T344T			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAATTCATACTCAAGAAAAAC	0.388													False	0	False	19:35232318	0	G	35232318	T	G	35232318	2	3	29	1	0	0	0	0	0	0	0	1	17832	1538	54	4		4	ZNF181	19	35232318	Silent	SNP	T	TCGA-3A-A9J0-01A-11D-A40W-08	25468204	35232318	23896665	104	2457											
KLK15	55554	broad.mit.edu	37	chr19	51330356	51330356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgacccgagacgtggtccGtagttgctctgggccatcgc	13	12	1	2	rs61751959		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:51330356G>A	ENST00000326856.4	-	4	385	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	KLK15_ENST00000596931.1_Missense_Mutation_p.R86W|KLK15_ENST00000598239.1_Missense_Mutation_p.R87W|KLK15_ENST00000301421.2_Missense_Mutation_p.R87W|KLK15_ENST00000416184.1_Missense_Mutation_p.R87W	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	87	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GACGTGGTCCGTAGTTGCTCT	0.652													False	0	False	19:51330356	0	A	51330356	G	A	51330356	3	1	29	1	0	0	0	0	1	0	0	0	8453	1144	40	1	523	1	KLK15	19	51330356	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	16098038	51330356	7798627	105	2458											
LILRA1	11024	broad.mit.edu	37	chr19	55106342	55106342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctgggaacacacagggCggtatcgctgtttctacggt	12	11	2	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:55106342C>T	ENST00000453777.1	+	4	453	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R95W|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	95	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACACACAGGGCGGTATCGCTG	0.572													False	0	True	19:55106342	0	T	55106342	C	T	55106342	3	4	29	1	0	0	0	0	1	0	0	0	8836	759	27	1	293	1	LILRA1	19	55106342	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	3775986	55106342	4022641	106	2459											
NLRP7	199713	broad.mit.edu	37	chr19	55450945	55450945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcggccaggaggctcagCgtccgcagcgcgccccgcag	16	17	1	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:55450945C>T	ENST00000588756.1	-	6	1728	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	NLRP7_ENST00000328092.5_Silent_p.T414T|NLRP7_ENST00000590030.1_Silent_p.T414T|NLRP7_ENST00000448121.2_Silent_p.T414T|NLRP7_ENST00000446217.1_Silent_p.T442T|NLRP7_ENST00000592784.1_Silent_p.T414T|NLRP7_ENST00000340844.2_Silent_p.T414T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	414	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGAGGCTCAGCGTCCGCAGCG	0.711													False	0	False	19:55450945	0	T	55450945	C	T	55450945	2	4	29	1	0	0	0	0	0	0	0	1	10550	755	27	1		1	NLRP7	19	55450945	Silent	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	344603	55450945	3678038	107	2460											
SYT5	6861	broad.mit.edu	37	chr19	55690401	55690401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccggggttgggggctcCgggaacatggtggcggggtc	22	10	0	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:55690401C>T	ENST00000590851.1	-	1	357	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	SYT5_ENST00000537500.1_Silent_p.P3P|SYT5_ENST00000354308.3_Silent_p.P3P			O00445	SYT5_HUMAN	synaptotagmin V	0					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TTGGGGGCTCCGGGAACATGG	0.677													False	0	True	19:55690401	0	T	55690401	C	T	55690401	3	4	29	1	0	0	0	0	1	0	0	0	15559	639	23	1	1183	1	SYT5	19	55690401	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	239456	55690401	3438582	108	2461											
FASTKD5	60493	broad.mit.edu	37	chr20	3128938	3128938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaaaaatgtttaaaaacCtaggtactttgcggcctaag	8	6	0	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:3128938C>T	ENST00000380266.3	-	2	1100	c.779G>A	c.(778-780)aGg>aAg	p.R260K	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	260					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GTTTAAAAACCTAGGTACTTT	0.398													False	0	False	20:3128938	0	T	3128938	C	T	3128938	3	4	29	1	0	0	0	0	1	0	0	0	5728	681	24	2	1519	2	FASTKD5	20	3128938	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		3128938	59896582	109	2462											
MYH7B	57644	broad.mit.edu	37	chr20	33586211	33586212	+	Frame_Shift_Del	DEL	AC	AC	-													agcacgcagcgtgggcgactAcagacggaaagcggtgaggc							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:33586211_33586212delAC	ENST00000262873.7	+	31	4079_4080	c.3987_3988delAC	c.(3985-3990)ctacagfs	p.Q1330fs		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1288						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GTGGGCGACTACAGACGGAAAG	0.649													False	1	False	20:33586211	0	-	33586212	AC	-	33586211	7	5	29	1	0	1	0	1	0	0	0	0	10107	378	14	0	4109	0	MYH7B	20	33586211	Frame_Shift_Del	DEL	AC	TCGA-3A-A9J0-01A-11D-A40W-08	30457273	33586211	29439309	110	2463											
PPP1R16B	26051	broad.mit.edu	37	chr20	37536753	37536753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggccatcctgtggcagCggagtgcagctgaggatcag	17	9	1	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:37536753C>T	ENST00000299824.1	+	10	1300	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R329W	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	371					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCTGTGGCAGCGGAGTGCAGC	0.602													False	0	False	20:37536753	0	T	37536753	C	T	37536753	3	4	29	1	0	0	0	0	1	0	0	0	12440	759	27	1	1145	1	PPP1R16B	20	37536753	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	3950542	37536753	25488767	111	2464											
WFDC10A	140832	broad.mit.edu	37	chr20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaggataccgtgacaagaAgaggatgcagagtaggtgat	17	4	0	5			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region	serine-type endopeptidase inhibitor activity			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	20:44258532	0	T	44258532	A	T	44258532	3	4	29	1	0	0	0	0	1	0	0	0	17431	72	3	5	82	5	WFDC10A	20	44258532	Missense_Mutation	SNP	A	TCGA-3A-A9J0-01A-11D-A40W-08	6721779	44258532	18766988	112	2465											
SLC12A5	57468	broad.mit.edu	37	chr20	44685140	44685142	+	In_Frame_Del	DEL	AGA	AGA	-													caaggacaagtcggtggcagAgaagaataagggccccagtc							TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:44685140_44685142delAGA	ENST00000243964.3	+	23	3145_3147	c.3047_3049delAGA	c.(3046-3051)gagaag>gag	p.K1017del	SLC12A5_ENST00000454036.1_In_Frame_Del_p.K1040del	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1040					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCGGTGGCAGAGAAGAATAAGGG	0.635													False	2	False	20:44685140	0	-	44685142	AGA	-	44685140	7	5	29	1	0	1	0	1	0	0	0	0	14467	304	11	0	3262	0	SLC12A5	20	44685140	In_Frame_Del	DEL	AGA	TCGA-3A-A9J0-01A-11D-A40W-08	426608	44685140	18340380	113	2466											
ARFGEF2	10564	broad.mit.edu	37	chr20	47569336	47569336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaatatctatttggccaGcaaaaatctcatcaatcaaa	3	9	4	0			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:47569336G>A	ENST00000371917.4	+	5	518	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	173					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TATTTGGCCAGCAAAAATCTC	0.443													False	0	False	20:47569336	0	A	47569336	G	A	47569336	3	1	29	1	0	0	0	0	1	0	0	0	855	971	34	2	536	2	ARFGEF2	20	47569336	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	2884196	47569336	15456184	114	2467											
DSCAM	1826	broad.mit.edu	37	chr21	41710288	41710288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgatgtttttcattggtCgaatgcttgcaggccctgga	12	8	1	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr21:41710288C>T	ENST00000400454.1	-	8	2000	c.1523G>A	c.(1522-1524)cGa>cAa	p.R508Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	508	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTCATTGGTCGAATGCTTGC	0.403													False	0	False	21:41710288	0	T	41710288	C	T	41710288	3	4	29	1	0	0	0	0	1	0	0	0	4798	884	31	1	4619	1	DSCAM	21	41710288	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08		41710288	6419607	115	2468											
COL6A2	0	broad.mit.edu	37	chr21	47545822	47545822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaacctcgagtggattgCgggcggcacctggacaccct	13	13	0	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr21:47545822C>T	ENST00000300527.4	+	26	2197	c.2093C>T	c.(2092-2094)gCg>gTg	p.A698V	COL6A2_ENST00000310645.5_Missense_Mutation_p.A698V|COL6A2_ENST00000409416.1_Missense_Mutation_p.A698V|COL6A2_ENST00000357838.4_Missense_Mutation_p.A698V|COL6A2_ENST00000397763.1_Missense_Mutation_p.A698V	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	698	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGTGGATTGCGGGCGGCACC	0.602													False	0	True	21:47545822	0	T	47545822	C	T	47545822	3	4	29	1	0	0	0	0	1	0	0	0	3723	768	27	1	2191	1	COL6A2	21	47545822	Missense_Mutation	SNP	C	TCGA-3A-A9J0-01A-11D-A40W-08	5835534	47545822	584073	116	2469											
PPM1F	9647	broad.mit.edu	37	chr22	22277807	22277807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcccgggaagctgcatcGgcctccccagacacgtaggg	14	15	0	1			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr22:22277807G>A	ENST00000407142.1	-	6	1579	c.519C>T	c.(517-519)gcC>gcT	p.A173A	PPM1F_ENST00000538191.1_Silent_p.A237A|PPM1F_ENST00000263212.5_Silent_p.A341A			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	341					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AAGCTGCATCGGCCTCCCCAG	0.632													False	0	False	22:22277807	0	A	22277807	G	A	22277807	2	1	29	1	0	0	0	0	0	0	0	1	12413	1103	39	1		1	PPM1F	22	22277807	Silent	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		22277807	29026759	117	2470											
TBC1D10A	83874	broad.mit.edu	37	chr22	30722767	30722767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagagagctgagttcgtcgGtggttgcggcgtcggggccc	19	10	0	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr22:30722767G>A	ENST00000215790.7	-	1	268	c.104C>T	c.(103-105)aCc>aTc	p.T35I	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.T35I|TBC1D10A_ENST00000490449.1_5'UTR	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	35						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GAGTTCGTCGGTGGTTGCGGC	0.711													False	0	False	22:30722767	0	A	30722767	G	A	30722767	3	1	29	1	0	0	0	0	1	0	0	0	15680	1261	44	2	1458	2	TBC1D10A	22	30722767	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08	8444960	30722767	20581799	118	2471											
TMEM47	83604	broad.mit.edu	37	chrX	34657384	34657384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcaaaaagcatgaccGcaacaggtctatagaaacgc	9	11	1	2			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chrX:34657384G>A	ENST00000275954.3	-	2	605	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	116						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AAGCATGACCGCAACAGGTCT	0.443													False	0	False	X:34657384	0	A	34657384	G	A	34657384	3	1	29	1	0	0	0	0	1	0	0	0	16253	1087	38	1	206	1	TMEM47	23	34657384	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		34657384	120613176	119	2472											
PCDH11Y	83259	broad.mit.edu	37	chrY	4968431	4968431	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atggaaacagagtcacactaGaccttcctattgatctagaa	7	9	2	4			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chrY:4968431G>C	ENST00000333703.4	+	5	3292	c.2779G>C	c.(2779-2781)Gac>Cac	p.D927H	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D938H|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D938H	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	938					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCACACTAGACCTTCCTAT	0.428													False	0	False	Y:4968431	0	C	4968431	G	C	4968431	3	2	29	1	0	0	0	0	1	0	0	0	11577	942	33	5	2854	5	PCDH11Y	24	4968431	Missense_Mutation	SNP	G	TCGA-3A-A9J0-01A-11D-A40W-08		4968431	54405135	120	2473											
PRDM16	63976	broad.mit.edu	37	chr1	3331138	3331138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcagggtagaaaagcGgaaggtcacagaccccgtgg	15	10	1	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:3331138G>A	ENST00000378398.3	+	11	2700	c.2618G>A	c.(2617-2619)cGg>cAg	p.R873Q	PRDM16_ENST00000270722.5_Missense_Mutation_p.R873Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.R874Q|PRDM16_ENST00000378391.2_Missense_Mutation_p.R873Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.R873Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	873	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTAGAAAAGCGGAAGGTCACA	0.687			T	EVI1	"MDS, AML"								False	0	False	1:3331138	0	A	3331138	G	A	3331138	3	1	30	1	0	0	0	0	1	0	0	0	12533	1116	39	1	2656	1	PRDM16	1	3331138	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		3331138	245919483	1	2474											
HP1BP3	50809	broad.mit.edu	37	chr1	21071440	21071440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggtcttcttggcaggCgttttggccttaggaggtgc	16	8	3	0	rs144814158		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:21071440C>T	ENST00000375003.2	-	9	2556	c.1056G>A	c.(1054-1056)acG>acA	p.T352T	HP1BP3_ENST00000312239.5_Silent_p.T504T			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	504	H15 3.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TCTTGGCAGGCGTTTTGGCCT	0.527													False	0	False	1:21071440	0	T	21071440	C	T	21071440	2	4	30	1	0	0	0	0	0	0	0	1	7375	755	27	1		1	HP1BP3	1	21071440	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	17740302	21071440	228179181	2	2475											
TAL1	6886	broad.mit.edu	37	chr1	47685731	47685731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgctgagcttcttgtcCgggggatgtgtggggatcag	16	7	3	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:47685731C>T	ENST00000371883.3	-	4	1239	c.663G>A	c.(661-663)ccG>ccA	p.P221P	TAL1_ENST00000371884.2_Silent_p.P219P|TAL1_ENST00000294339.3_Silent_p.P219P|TAL1_ENST00000459729.1_5'UTR			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	219	Helix-loop-helix motif.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GCTTCTTGTCCGGGGGATGTG	0.587			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								False	0	True	1:47685731	0	T	47685731	C	T	47685731	2	4	30	1	0	0	0	0	0	0	0	1	15623	639	23	1		1	TAL1	1	47685731	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	26614291	47685731	201564890	3	2476											
FGGY	55277	broad.mit.edu	37	chr1	60106978	60106978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggatatctgtatattccGgctttggcagcgttgcactc	10	10	1	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:60106978G>A	ENST00000371218.4	+	12	1432	c.1248G>A	c.(1246-1248)ccG>ccA	p.P416P	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371210.1_Intron|FGGY_ENST00000303721.7_Intron	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	407					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TGTATATTCCGGCTTTGGCAG	0.368													False	0	False	1:60106978	0	A	60106978	G	A	60106978	2	1	30	1	0	0	0	0	0	0	0	1	5911	1103	39	1		1	FGGY	1	60106978	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	12421247	60106978	189143643	4	2477											
FAM49A	81553	broad.mit.edu	37	chr2	16745312	16745312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaacaagagggcacacCgcattccaagctttttcttg	7	13	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr2:16745312C>T	ENST00000381323.3	-	5	463	c.243G>A	c.(241-243)gcG>gcA	p.A81A	FAM49A_ENST00000355549.2_Silent_p.A81A|FAM49A_ENST00000406434.1_Silent_p.A81A	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	81						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GAGGGCACACCGCATTCCAAG	0.408													False	0	False	2:16745312	0	T	16745312	C	T	16745312	2	4	30	1	0	0	0	0	0	0	0	1	5615	639	23	1		1	FAM49A	2	16745312	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		16745312	226454061	5	2478											
SAG	6295	broad.mit.edu	37	chr2	234229331	234229331	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagaggacattgacgtgatCggcttgaccttccgcaggga	13	10	0	4			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr2:234229331C>T	ENST00000409110.1	+	5	467	c.237C>T	c.(235-237)atC>atT	p.I79I	SAG_ENST00000449594.2_5'UTR|SAG_ENST00000461532.1_3'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	79					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TTGACGTGATCGGCTTGACCT	0.607													False	0	False	2:234229331	0	T	234229331	C	T	234229331	2	4	30	1	0	0	0	0	0	0	0	1	13887	874	31	1		1	SAG	2	234229331	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	217484019	234229331	8970042	6	2479											
GRM7	2917	broad.mit.edu	37	chr3	7728108	7728108	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtacactatcccaccaacAgtatagcttttgactgcttt	6	11	0	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr3:7728108A>C	ENST00000486284.1	+	10	3037	c.2763A>C	c.(2761-2763)acA>acC	p.T921T	GRM7_ENST00000389336.4_Intron|GRM7_ENST00000403881.1_Intron|GRM7_ENST00000357716.4_Intron|GRM7_ENST00000402647.2_Silent_p.T921T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	0					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCCCACCAACAGTATAGCTTT	0.323													False	0	False	3:7728108	0	C	7728108	A	C	7728108	2	2	30	1	0	0	0	0	0	0	0	1	6849	175	7	4		4	GRM7	3	7728108	Silent	SNP	A	TCGA-3E-AAAY-01A-11D-A38G-08		7728108	190294322	7	2480											
ZPLD1	131368	broad.mit.edu	37	chr3	102196331	102196331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaacgccatcaccagcGcactgatatcaggaatggtc	10	12	2	2	rs79539385	by1000genomes	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr3:102196331G>A	ENST00000306176.1	+	11	1265	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T	ZPLD1_ENST00000491959.1_Missense_Mutation_p.A373T|ZPLD1_ENST00000466937.1_Missense_Mutation_p.A373T	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	373						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CATCACCAGCGCACTGATATC	0.473													False	0	False	3:102196331	0	A	102196331	G	A	102196331	3	1	30	1	0	0	0	0	1	0	0	0	18303	1087	38	1	1207	1	ZPLD1	3	102196331	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	94468223	102196331	95826099	8	2481											
FBXL5	26234	broad.mit.edu	37	chr4	15627448	15627448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttccacgcagttgaagtaAttttgcttgtagatgttttc	8	6	0	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr4:15627448A>G	ENST00000341285.3	-	9	1401	c.1277T>C	c.(1276-1278)aTt>aCt	p.I426T	FBXL5_ENST00000382358.4_Missense_Mutation_p.I300T|FBXL5_ENST00000412094.2_Missense_Mutation_p.I409T	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	426					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGTTGAAGTAATTTTGCTTGT	0.393													False	0	True	4:15627448	0	G	15627448	A	G	15627448	3	3	30	1	0	0	0	0	1	0	0	0	5762	101	4	4	810	4	FBXL5	4	15627448	Missense_Mutation	SNP	A	TCGA-3E-AAAY-01A-11D-A38G-08		15627448	175526828	9	2482											
REEP2	51308	broad.mit.edu	37	chr5	137777145	137777145	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgctcacggatatagtgctCtcctggtgaggtccagcgtc	12	12	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:137777145C>T	ENST00000378339.2	+	3	369	c.177C>T	c.(175-177)ctC>ctT	p.L59L	REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000506158.1_Silent_p.L21L|REEP2_ENST00000254901.5_Silent_p.L59L	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	59						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATATAGTGCTCTCCTGGTGAG	0.592													False	0	False	5:137777145	0	T	137777145	C	T	137777145	2	4	30	1	0	0	0	0	0	0	0	1	13284	900	32	2		2	REEP2	5	137777145	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		137777145	43138115	10	2483											
PCDHAC2	0	broad.mit.edu	37	chr5	140347507	140347507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccaacaccattgtggccGttctcagtgtcaatgaccaa	7	14	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:140347507G>A	ENST00000289269.5	+	1	1688	c.1156G>A	c.(1156-1158)Gtt>Att	p.V386I	PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		386	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTGTGGCCGTTCTCAGTGT	0.557													False	0	False	5:140347507	0	A	140347507	G	A	140347507	3	1	30	1	0	0	0	0	1	0	0	0	11601	1145	40	1	1158	1	PCDHAC2	5	140347507	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	2570362	140347507	40567753	11	2484											
PCDHB2	0	broad.mit.edu	37	chr5	140475695	140475695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccgagcacaacataaccGtgctggtctccgacgtcaat	8	13	2	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:140475695G>A	ENST00000194155.4	+	1	1469	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		441	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACATAACCGTGCTGGTCTC	0.602													False	0	False	5:140475695	0	A	140475695	G	A	140475695	3	1	30	1	0	0	0	0	1	0	0	0	11610	1145	40	1	1323	1	PCDHB2	5	140475695	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	128188	140475695	40439565	12	2485											
PCDHB3	0	broad.mit.edu	37	chr5	140481822	140481822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaggcgttcgagttccGcgtgggcgccacagaccgtg	15	14	0	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:140481822G>A	ENST00000231130.2	+	1	1589	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.R530H(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGCGTGGGCGCC	0.667													False	0	False	5:140481822	0	A	140481822	G	A	140481822	3	1	30	1	0	0	0	0	1	0	0	0	11611	1087	38	1	1591	1	PCDHB3	5	140481822	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	6127	140481822	40433438	13	2486											
LCP2	3937	broad.mit.edu	37	chr5	169685144	169685145	+	In_Frame_Ins	INS	-	-	CAGGCAGATTGAGAAAGAAGGAAA													gagctcataggaagtagtgcINStggctggggcaaaggtctct							TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:169685144_169685145insCAGGCAGATTGAGAAAGAAGGAAA	ENST00000046794.5	-	16	1611_1612	c.996_997insTTTCCTTCTTTCTCAATCTGCCTG	c.(994-999)ccagca>ccaTTTCCTTCTTTCTCAATCTGCCTGgca	p.332_333PA>PFPSFSICLA	LCP2_ENST00000521416.1_In_Frame_Ins_p.127_128PA>PFPSFSICLA	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	332					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGAAGTAGTGCTGGCTGGGGCA	0.5													False	0	True	5:169685144	0	CAGGCAGATTGAGAAAGAAGGAAA	169685145	-	CAGGCAGATTGAGAAAGAAGGAAA	169685144	7	5	30	1	0	1	1	0	0	0	0	0	8743	797	28	0	628	0	LCP2	5	169685144	In_Frame_Ins	INS	-	TCGA-3E-AAAY-01A-11D-A38G-08	29203322	169685144	11230116	14	2487											
RASGEF1C	255426	broad.mit.edu	37	chr5	179548100	179548100	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtagcacagcctgttgAaccatttcacataagcctcc	7	14	1	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:179548100A>C	ENST00000393371.2	-	6	1060	c.764T>G	c.(763-765)tTc>tGc	p.F255C	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.F255C|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.F104C|RASGEF1C_ENST00000519883.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	255	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCCTGTTGAACCATTTCAC	0.557													False	0	False	5:179548100	0	C	179548100	A	C	179548100	3	2	30	1	0	0	0	0	1	0	0	0	13150	246	9	4	668	4	RASGEF1C	5	179548100	Missense_Mutation	SNP	A	TCGA-3E-AAAY-01A-11D-A38G-08	9862956	179548100	1367160	15	2488											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	30	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-3E-AAAY-01A-11D-A38G-08		7393450	163721617	16	2489											
AIM1	202	broad.mit.edu	37	chr6	106987390	106987390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcgtacattggatccatgCggcctctgaaaatggtaaaa	10	8	1	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr6:106987390C>T	ENST00000369066.3	+	7	4094	c.3607C>T	c.(3607-3609)Cgg>Tgg	p.R1203W		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1203	Beta/gamma crystallin 'Greek key' 4.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGGATCCATGCGGCCTCTGAA	0.438													False	0	False	6:106987390	0	T	106987390	C	T	106987390	3	4	30	1	0	0	0	0	1	0	0	0	430	759	27	1	3633	1	AIM1	6	106987390	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	99593940	106987390	64127677	17	2490											
DNAH11	8701	broad.mit.edu	37	chr7	21628848	21628848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgggcaatcctgatcacGctttagtttatcaaaagtat	7	7	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr7:21628848G>A	ENST00000328843.6	+	12	2027	c.1996G>A	c.(1996-1998)Gct>Act	p.A666T	DNAH11_ENST00000409508.3_Missense_Mutation_p.A666T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	666	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCCTGATCACGCTTTAGTTTA	0.303									Kartagener syndrome				False	0	False	7:21628848	0	A	21628848	G	A	21628848	3	1	30	1	0	0	0	0	1	0	0	0	4629	1087	38	1	2042	1	DNAH11	7	21628848	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		21628848	137509815	18	2491											
BAZ1B	9031	broad.mit.edu	37	chr7	72892025	72892025	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatctgaatgctggaaggTttttgccagttaactcttgg	10	8	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr7:72892025T>G	ENST00000339594.4	-	7	2104	c.1766A>C	c.(1765-1767)aAc>aCc	p.N589T	BAZ1B_ENST00000404251.1_Missense_Mutation_p.N589T	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	589					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCTGGAAGGTTTTTGCCAGT	0.458													False	0	True	7:72892025	0	G	72892025	T	G	72892025	3	3	30	1	0	0	0	0	1	0	0	0	1334	1725	60	4	2737	4	BAZ1B	7	72892025	Missense_Mutation	SNP	T	TCGA-3E-AAAY-01A-11D-A38G-08	51263177	72892025	86246638	19	2492											
HOOK3	84376	broad.mit.edu	37	chr8	42805542	42805542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttcagagtacatccaaGccattatgatgatggaggaa	10	6	1	3			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr8:42805542G>A	ENST00000307602.4	+	6	612	c.412G>A	c.(412-414)Gcc>Acc	p.A138T		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	138	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTACATCCAAGCCATTATGAT	0.353			T	RET	papillary thyroid								False	0	False	8:42805542	0	A	42805542	G	A	42805542	3	1	30	1	0	0	0	0	1	0	0	0	7331	971	34	2	434	2	HOOK3	8	42805542	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		42805542	103558480	20	2493											
ZFHX4	79776	broad.mit.edu	37	chr8	77767067	77767067	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccagaaaaatgcttgatcAtattgcccgcgaagtcgggc	10	10	1	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr8:77767067A>G	ENST00000521891.2	+	10	8358	c.7910A>G	c.(7909-7911)cAt>cGt	p.H2637R	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2592R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2592R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2611R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2592						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGCTTGATCATATTGCCCGC	0.507										HNSCC(33;0.089)			False	0	False	8:77767067	0	G	77767067	A	G	77767067	3	3	30	1	0	0	0	0	1	0	0	0	17718	217	8	4	7944	4	ZFHX4	8	77767067	Missense_Mutation	SNP	A	TCGA-3E-AAAY-01A-11D-A38G-08	34961525	77767067	68596955	21	2494											
ZC3H3	23144	broad.mit.edu	37	chr8	144620233	144620233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactttgtaagccgagagcGgggtctccccagagaggggc	15	11	2	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr8:144620233G>A	ENST00000262577.5	-	2	1335	c.1304C>T	c.(1303-1305)cCg>cTg	p.P435L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	435					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AGCCGAGAGCGGGGTCTCCCC	0.642													False	0	True	8:144620233	0	A	144620233	G	A	144620233	3	1	30	1	0	0	0	0	1	0	0	0	17652	1116	39	1	1586	1	ZC3H3	8	144620233	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	66853166	144620233	1743789	22	2495											
CDKN2A	1029	broad.mit.edu	37	chr9	21974747	21974747	+	Frame_Shift_Del	DEL	T	T	-													cctccagcagcgcccgcaccTcctctacccgaccccgggcc							TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:21974747delT	ENST00000304494.5	-	1	350	c.80delA	c.(79-81)gagfs	p.E27fs	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E27fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E27fs|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E27fs|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	27					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCCCGCACCTCCTCTACCCG	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	1	False	9:21974747	0	-	21974747	T	-	21974747	7	5	30	1	0	1	0	1	0	0	0	0	3184	1551	54	0	603	0	CDKN2A	9	21974747	Frame_Shift_Del	DEL	T	TCGA-3E-AAAY-01A-11D-A38G-08		21974747	119238684	23	2496											
C9orf24	84688	broad.mit.edu	37	chr9	34381395	34381395	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgagccgctccggcctaggAgggcattccaagggcattcc	13	13	0	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:34381395A>T	ENST00000297623.2	-	4	642	c.444T>A	c.(442-444)ccT>ccA	p.P148P	C9orf24_ENST00000379133.3_Silent_p.P13P|C9orf24_ENST00000379126.3_Silent_p.P13P|C9orf24_ENST00000379124.1_Silent_p.P13P|C9orf24_ENST00000379127.1_Silent_p.P13P	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	148										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		CCGGCCTAGGAGGGCATTCCA	0.617													False	0	True	9:34381395	0	T	34381395	A	T	34381395	2	4	30	1	0	0	0	0	0	0	0	1	2495	291	11	5		5	C9orf24	9	34381395	Silent	SNP	A	TCGA-3E-AAAY-01A-11D-A38G-08	12406648	34381395	106832036	24	2497											
TRPM3	80036	broad.mit.edu	37	chr9	73151305	73151305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggaaggcagctctgtccGcaattgcttgaggggcattg	15	9	1	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:73151305G>A	ENST00000377110.3	-	25	4931	c.4688C>T	c.(4687-4689)gCg>gTg	p.A1563V	TRPM3_ENST00000377106.1_Missense_Mutation_p.A1435V|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1567V|TRPM3_ENST00000377105.1_Missense_Mutation_p.A1422V|TRPM3_ENST00000396285.1_Missense_Mutation_p.A1422V|TRPM3_ENST00000423814.3_Missense_Mutation_p.A1590V|TRPM3_ENST00000360823.2_Missense_Mutation_p.A1425V|TRPM3_ENST00000396292.4_Missense_Mutation_p.A1435V|TRPM3_ENST00000358082.3_Missense_Mutation_p.A1425V|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.A1412V|TRPM3_ENST00000408909.2_Missense_Mutation_p.A1422V			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCTCTGTCCGCAATTGCTTG	0.493													False	0	False	9:73151305	0	A	73151305	G	A	73151305	3	1	30	1	0	0	0	0	1	0	0	0	16670	1087	38	1	439	1	TRPM3	9	73151305	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	38769910	73151305	68062126	25	2498											
TGFBR1	7046	broad.mit.edu	37	chr9	101891209	101891209	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agatgggctctgctttgtctCtgtcacagagaccacagaca	10	11	3	3			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:101891209C>T	ENST00000374994.4	+	2	287	c.170C>T	c.(169-171)tCt>tTt	p.S57F	TGFBR1_ENST00000552516.1_Missense_Mutation_p.S57F|TGFBR1_ENST00000550253.1_5'UTR|TGFBR1_ENST00000374990.2_Missense_Mutation_p.S57F	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	57					activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGCTTTGTCTCTGTCACAGAG	0.408													False	0	False	9:101891209	0	T	101891209	C	T	101891209	3	4	30	1	0	0	0	0	1	0	0	0	15903	913	32	2	176	2	TGFBR1	9	101891209	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	28739904	101891209	39322222	26	2499											
OR1L1	26737	broad.mit.edu	37	chr9	125424481	125424481	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctgcacattcttctgActaatcagctcatcttctgt	4	15	6	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:125424481A>G	ENST00000373686.1	+	1	637	c.637A>G	c.(637-639)Act>Gct	p.T213A	OR1L1_ENST00000309623.1_Missense_Mutation_p.T163A			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CATTCTTCTGACTAATCAGCT	0.438													False	0	False	9:125424481	0	G	125424481	A	G	125424481	3	3	30	1	0	0	0	0	1	0	0	0	11031	275	10	4	489	4	OR1L1	9	125424481	Missense_Mutation	SNP	A	TCGA-3E-AAAY-01A-11D-A38G-08	23533272	125424481	15788950	27	2500											
RASGEF1A	221002	broad.mit.edu	37	chr10	43701485	43701485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaccggccccgcctccaCgctcccccatgccaggctgc	9	24	0	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr10:43701485C>T	ENST00000395809.1	-	2	2586	c.80G>A	c.(79-81)cGt>cAt	p.R27H	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R35H|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R27H			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	27					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.R27H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCCGCCTCCACGCTCCCCCAT	0.637													False	0	False	10:43701485	0	T	43701485	C	T	43701485	3	4	30	1	0	0	0	0	1	0	0	0	13148	536	19	1	1413	1	RASGEF1A	10	43701485	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		43701485	91833262	28	2501											
RTKN2	219790	broad.mit.edu	37	chr10	64005797	64005797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacatgctgttcgttcttTactttcaaatttcacatcac	3	10	4	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr10:64005797T>C	ENST00000373789.3	-	3	373	c.277A>G	c.(277-279)Aaa>Gaa	p.K93E	RTKN2_ENST00000395260.3_Missense_Mutation_p.K93E|RTKN2_ENST00000395265.1_Missense_Mutation_p.K93E	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	93					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTTCGTTCTTTACTTTCAAAT	0.279													False	0	True	10:64005797	0	C	64005797	T	C	64005797	3	2	30	1	0	0	0	0	1	0	0	0	13802	1763	61	4	1592	4	RTKN2	10	64005797	Missense_Mutation	SNP	T	TCGA-3E-AAAY-01A-11D-A38G-08	20304312	64005797	71528950	29	2502											
DLG5	9231	broad.mit.edu	37	chr10	79570968	79570968	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctggagagtggagtgGgtaccggcagggtccaggtg	19	9	0	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr10:79570968G>T	ENST00000372391.2	-	23	4352	c.4347C>A	c.(4345-4347)acC>acA	p.T1449T	DLG5_ENST00000372388.2_Silent_p.T1109T|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1449					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GAGTGGAGTGGGTACCGGCAG	0.647													False	0	True	10:79570968	0	T	79570968	G	T	79570968	2	4	30	1	0	0	0	0	0	0	0	1	4588	1219	43	3		3	DLG5	10	79570968	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	15565171	79570968	55963779	30	2503											
IGF2	3481	broad.mit.edu	37	chr11	2154783	2154783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcgacacgtccctctcGgacttggcgggggtagcaca	16	12	1	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:2154783G>A	ENST00000416167.2	-	3	1436	c.270C>T	c.(268-270)tcC>tcT	p.S90S	IGF2_ENST00000418738.2_Silent_p.S90S|IGF2_ENST00000300632.5_Silent_p.S90S|IGF2_ENST00000434045.2_Silent_p.S146S|IGF2_ENST00000381395.1_Silent_p.S90S|IGF2_ENST00000381392.1_Silent_p.S93S|IGF2_ENST00000381389.1_Silent_p.S90S|IGF2_ENST00000381406.4_Silent_p.S93S			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	90	D.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CGTCCCTCTCGGACTTGGCGG	0.652													False	0	False	11:2154783	0	A	2154783	G	A	2154783	2	1	30	1	0	0	0	0	0	0	0	1	7622	1103	39	1		1	IGF2	11	2154783	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		2154783	132851733	31	2504											
INS-IGF2	0	broad.mit.edu	37	chr11	2182109	2182109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccaccaggtgtgagccGcacaggtgttggttcacaaa	12	11	1	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:2182109G>A	ENST00000397270.1	-	2	151	c.93C>T	c.(91-93)tgC>tgT	p.C31C	INS_ENST00000250971.3_Silent_p.C31C|INS_ENST00000512523.1_Silent_p.C31C|INS_ENST00000397262.1_Silent_p.C31C|INS_ENST00000381330.4_Silent_p.C31C	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN		31					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GGTGTGAGCCGCACAGGTGTT	0.652													False	0	False	11:2182109	0	A	2182109	G	A	2182109	2	1	30	1	0	0	0	0	0	0	0	1	7813	1079	38	1		1	INS-IGF2	11	2182109	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	27326	2182109	132824407	32	2505											
PIK3C2A	5286	broad.mit.edu	37	chr11	17156533	17156533	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcataaattgctgcagttaaTtggtttatgcttacttgaac	7	6	1	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:17156533T>C	ENST00000265970.7	-	10	1940	c.1941A>G	c.(1939-1941)caA>caG	p.Q647Q	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.Q267Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	647					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTGCAGTTAATTGGTTTATGC	0.373													False	0	False	11:17156533	0	C	17156533	T	C	17156533	2	2	30	1	0	0	0	0	0	0	0	1	11978	1490	52	4		4	PIK3C2A	11	17156533	Silent	SNP	T	TCGA-3E-AAAY-01A-11D-A38G-08	14974424	17156533	117849983	33	2506											
ABTB2	25841	broad.mit.edu	37	chr11	34218927	34218927	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttggggttctccatggactCcatctgtggacaccgcagaa	12	11	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:34218927C>A	ENST00000435224.2	-	3	1613	c.1189G>T	c.(1189-1191)Gag>Tag	p.E397*	ABTB2_ENST00000298992.2_Nonsense_Mutation_p.E211*|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	211							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TCCATGGACTCCATCTGTGGA	0.632													False	0	False	11:34218927	0	A	34218927	C	A	34218927	4	1	30	1	0	0	0	0	0	1	0	0	103	864	30	3	1948	3	ABTB2	11	34218927	Nonsense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	17062394	34218927	100787589	34	2507											
FAT3	120114	broad.mit.edu	37	chr11	92577822	92577822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcactcgattcccacgcGctcatgacctacagcacggc	8	16	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:92577822G>A	ENST00000298047.6	+	18	11306	c.11289G>A	c.(11287-11289)gcG>gcA	p.A3763A	FAT3_ENST00000525166.1_Silent_p.A3613A|FAT3_ENST00000533797.1_Silent_p.A98A|FAT3_ENST00000409404.2_Silent_p.A3763A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3763					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTCCCACGCGCTCATGACCT	0.532										TCGA Ovarian(4;0.039)			False	0	False	11:92577822	0	A	92577822	G	A	92577822	2	1	30	1	0	0	0	0	0	0	0	1	5731	1074	38	1		1	FAT3	11	92577822	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	58358895	92577822	42428694	35	2508											
ROBO3	64221	broad.mit.edu	37	chr11	124743218	124743218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccaggagatggacatgGgcttctacagctgcgtggcc	13	11	2	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:124743218G>A	ENST00000397801.1	+	10	1741	c.1549G>A	c.(1549-1551)Ggc>Agc	p.G517S	ROBO3_ENST00000538940.1_Missense_Mutation_p.G495S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	517	Ig-like C2-type 5.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GATGGACATGGGCTTCTACAG	0.542													False	0	True	11:124743218	0	A	124743218	G	A	124743218	3	1	30	1	0	0	0	0	1	0	0	0	13594	1232	43	2	1587	2	ROBO3	11	124743218	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	32165396	124743218	10263298	36	2509											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	30	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		25398284	108453611	37	2510											
KCNH3	23416	broad.mit.edu	37	chr12	49950199	49950199	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcggaccagcccaagTtctctttccgcgtgggccag	13	14	1	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:49950199T>C	ENST00000257981.6	+	13	2775	c.2515T>C	c.(2515-2517)Ttc>Ctc	p.F839L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	839					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCAGCCCAAGTTCTCTTTCCG	0.622													False	0	False	12:49950199	0	C	49950199	T	C	49950199	3	2	30	1	0	0	0	0	1	0	0	0	8083	1725	60	4	2565	4	KCNH3	12	49950199	Missense_Mutation	SNP	T	TCGA-3E-AAAY-01A-11D-A38G-08	24551915	49950199	83901696	38	2511											
SRRM4	84530	broad.mit.edu	37	chr12	119568524	119568524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagggcagaagtcccgccGaaggcactcccgccgctgct	14	15	0	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:119568524G>A	ENST00000267260.4	+	8	1044	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	219	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AAGTCCCGCCGAAGGCACTCC	0.657													False	0	False	12:119568524	0	A	119568524	G	A	119568524	3	1	30	1	0	0	0	0	1	0	0	0	15253	1058	37	1	686	1	SRRM4	12	119568524	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	69618325	119568524	14283371	39	2512											
HPD	3242	broad.mit.edu	37	chr12	122292622	122292622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcaccgtctgcagcacaGcaaacttcaccttcccaaac	4	17	3	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:122292622G>A	ENST00000543163.1	-	8	729	c.284C>T	c.(283-285)gCt>gTt	p.A95V	HPD_ENST00000289004.4_Missense_Mutation_p.A134V	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	134					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CTGCAGCACAGCAAACTTCAC	0.597													False	0	True	12:122292622	0	A	122292622	G	A	122292622	3	1	30	1	0	0	0	0	1	0	0	0	7379	971	34	2	812	2	HPD	12	122292622	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	2724098	122292622	11559273	40	2513											
IPO5	3843	broad.mit.edu	37	chr13	98671972	98671972	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgtgtaaacgttgaagagGtccttccacactggttgtct	10	9	1	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr13:98671972G>T	ENST00000261574.5	+	27	3208	c.3028G>T	c.(3028-3030)Gtc>Ttc	p.V1010F	IPO5_ENST00000490680.1_Missense_Mutation_p.V992F|IPO5_ENST00000539640.1_Missense_Mutation_p.V867F	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	992					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CGTTGAAGAGGTCCTTCCACA	0.413													False	0	False	13:98671972	0	T	98671972	G	T	98671972	3	4	30	1	0	0	0	0	1	0	0	0	7846	1261	44	3	3126	3	IPO5	13	98671972	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		98671972	16497906	41	2514											
VPS13C	54832	broad.mit.edu	37	chr15	62283987	62283987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactttttccttaatttttgCccagaccgaatcacctgaaa	5	11	1	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr15:62283987C>T	ENST00000261517.5	-	17	1441	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	VPS13C_ENST00000249837.3_Silent_p.G413G|VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000395896.4_Silent_p.G456G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	456					protein localization			p.G456G(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAATTTTTGCCCAGACCGAA	0.383													False	0	True	15:62283987	0	T	62283987	C	T	62283987	2	4	30	1	0	0	0	0	0	0	0	1	17275	726	26	2		2	VPS13C	15	62283987	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		62283987	40247405	42	2515											
MAZ	4150	broad.mit.edu	37	chr16	29819148	29819148	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggcaagagcttctccCggtgtgcacggggcctcggc	15	13	1	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr16:29819148C>T	ENST00000219782.6	+	2	1148	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	MAZ_ENST00000566906.2_Intron|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000545521.1_Splice_Site_p.R325W|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000322945.6_Splice_Site_p.R348W	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	348					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGCTTCTCCCGGTGTGCACG	0.701													False	0	True	16:29819148	0	T	29819148	C	T	29819148	5	4	30	1	0	0	0	0	0	0	1	0	9407	666	23	1	1048	1	MAZ	16	29819148	Splice_Site	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		29819148	60535605	43	2516											
COL1A1	1277	broad.mit.edu	37	chr17	48273541	48273541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggcagcaccagtagcaCcatcatttccacgagcaccc	8	18	1	0	rs72645356		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:48273541C>T	ENST00000225964.5	-	15	1095	c.977G>A	c.(976-978)gGt>gAt	p.G326D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	326	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCAGTAGCACCATCATTTCC	0.632			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						False	0	False	17:48273541	0	T	48273541	C	T	48273541	3	4	30	1	0	0	0	0	1	0	0	0	3700	507	18	2	3565	2	COL1A1	17	48273541	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		48273541	32921669	44	2517											
ACE	1636	broad.mit.edu	37	chr17	61558987	61558987	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacctccctggagctcTcccccatgcctcccgagttc	6	20	3	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:61558987T>C	ENST00000290866.4	+	7	1030	c.1006T>C	c.(1006-1008)Tcc>Ccc	p.S336P	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.S336P|ACE_ENST00000538928.1_Missense_Mutation_p.S336P	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	336	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCTGGAGCTCTCCCCCATGCC	0.657													False	0	True	17:61558987	0	C	61558987	T	C	61558987	3	2	30	1	0	0	0	0	1	0	0	0	136	1551	54	4	1032	4	ACE	17	61558987	Missense_Mutation	SNP	T	TCGA-3E-AAAY-01A-11D-A38G-08	13285446	61558987	19636223	45	2518											
SCN4A	6329	broad.mit.edu	37	chr17	62045516	62045516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccataccatgtgtcattgccGtaccacgtgtcattgctgta	8	12	2	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:62045516G>A	ENST00000578147.1	-	6	979	c.903C>T	c.(901-903)taC>taT	p.Y301Y	SCN4A_ENST00000435607.1_Silent_p.Y301Y			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	301					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGTCATTGCCGTACCACGTGT	0.552													False	0	False	17:62045516	0	A	62045516	G	A	62045516	2	1	30	1	0	0	0	0	0	0	0	1	14001	1140	40	1		1	SCN4A	17	62045516	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	486529	62045516	19149694	46	2519											
ST8SIA5	29906	broad.mit.edu	37	chr18	44268880	44268880	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgcagcacctggacagagtaGacctgccaggcagggagaca	14	11	0	3	rs151163620		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr18:44268880G>C	ENST00000315087.7	-	4	974	c.314C>G	c.(313-315)tCt>tGt	p.S105C	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S74C|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S141C|ST8SIA5_ENST00000590497.1_Intron	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	105					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GGACAGAGTAGACCTGCCAGG	0.587													False	0	False	18:44268880	0	C	44268880	G	C	44268880	3	2	30	1	0	0	0	0	1	0	0	0	15317	942	33	5	832	5	ST8SIA5	18	44268880	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		44268880	33808368	47	2520											
RETN	56729	broad.mit.edu	37	chr19	7735211	7735211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatggactggaccggagcGcgctgctgtcgtgtgcagcc	17	12	0	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:7735211G>A	ENST00000221515.2	+	4	391	c.303G>A	c.(301-303)gcG>gcA	p.A101A	RETN_ENST00000381324.2_Silent_p.A75A	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	101							hormone activity			ovary(1)	1						GGACCGGAGCGCGCTGCTGTC	0.706													False	0	True	19:7735211	0	A	7735211	G	A	7735211	2	1	30	1	0	0	0	0	0	0	0	1	13315	1074	38	1		1	RETN	19	7735211	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		7735211	51393772	48	2521											
OR7G2	390882	broad.mit.edu	37	chr19	9213690	9213690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccagcatctttgggatcGtggttgtgcttaaacaaatg	10	8	2	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:9213690G>A	ENST00000305456.2	-	1	292	c.293C>T	c.(292-294)aCg>aTg	p.T98M		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTTTGGGATCGTGGTTGTGCT	0.488													False	0	False	19:9213690	0	A	9213690	G	A	9213690	3	1	30	1	0	0	0	0	1	0	0	0	11291	1145	40	1	746	1	OR7G2	19	9213690	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	1478479	9213690	49915293	49	2522											
ABHD8	79575	broad.mit.edu	37	chr19	17412369	17412369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccagtggccccacggcGttggggggcgtgcccagcag	16	15	1	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:17412369G>A	ENST00000247706.3	-	2	296	c.57C>T	c.(55-57)aaC>aaT	p.N19N	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	19							hydrolase activity	p.N19N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCCCCACGGCGTTGGGGGGCG	0.652													False	0	False	19:17412369	0	A	17412369	G	A	17412369	2	1	30	1	0	0	0	0	0	0	0	1	87	1136	40	1		1	ABHD8	19	17412369	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	8198679	17412369	41716614	50	2523											
PDE4C	5143	broad.mit.edu	37	chr19	18331091	18331091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccggagcggctggtttcGgacaggtgggtcaactcccg	15	12	1	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:18331091G>A	ENST00000355502.3	-	11	1618	c.747C>T	c.(745-747)tcC>tcT	p.S249S	PDE4C_ENST00000594617.3_Silent_p.S249S|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_Silent_p.S18S|PDE4C_ENST00000594465.3_Silent_p.S249S|PDE4C_ENST00000262805.12_Silent_p.S217S|PDE4C_ENST00000447275.3_Silent_p.S143S|PDE4C_ENST00000598111.2_Silent_p.S19S|PDE4C_ENST00000597297.1_Silent_p.S19S			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	249					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGCTGGTTTCGGACAGGTGGG	0.597													False	0	False	19:18331091	0	A	18331091	G	A	18331091	2	1	30	1	0	0	0	0	0	0	0	1	11709	1103	39	1		1	PDE4C	19	18331091	Silent	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	918722	18331091	40797892	51	2524											
SIGLEC7	27036	broad.mit.edu	37	chr19	51647799	51647799	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggatggggacctctgtgtcCcccctgcacccctccaccac	9	19	1	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:51647799C>G	ENST00000317643.6	+	2	639	c.570C>G	c.(568-570)tcC>tcG	p.S190S	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	190	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCTCTGTGTCCCCCCTGCACC	0.662													False	0	True	19:51647799	0	G	51647799	C	G	51647799	2	3	30	1	0	0	0	0	0	0	0	1	14394	610	22	5		5	SIGLEC7	19	51647799	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	33316708	51647799	7481184	52	2525											
ZNF613	79898	broad.mit.edu	37	chr19	52448449	52448449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgggaaaggcttcaGccagaagacatgtttaatat	11	5	1	3			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:52448449G>A	ENST00000293471.6	+	6	1992	c.1313G>A	c.(1312-1314)aGc>aAc	p.S438N	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.S402N	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGGCTTCAGCCAGAAGACA	0.443													False	0	False	19:52448449	0	A	52448449	G	A	52448449	3	1	30	1	0	0	0	0	1	0	0	0	18121	971	34	2	1327	2	ZNF613	19	52448449	Missense_Mutation	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08	800650	52448449	6680534	53	2526											
NLRP2	55655	broad.mit.edu	37	chr19	55501405	55501405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggttggtgtcttgttcCgctaccactcagcagtgggc	12	12	2	0	rs148932752		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:55501405C>T	ENST00000543010.1	+	9	2525	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	NLRP2_ENST00000339757.7_Silent_p.S772S|NLRP2_ENST00000538819.1_Silent_p.S770S|NLRP2_ENST00000263437.6_Silent_p.S791S|NLRP2_ENST00000427260.2_Silent_p.S771S|NLRP2_ENST00000537859.1_Silent_p.S772S|NLRP2_ENST00000448584.2_Silent_p.S794S|NLRP2_ENST00000391721.4_Silent_p.S770S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	794					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGTCTTGTTCCGCTACCACTC	0.512													False	0	False	19:55501405	0	T	55501405	C	T	55501405	2	4	30	1	0	0	0	0	0	0	0	1	10545	639	23	1		1	NLRP2	19	55501405	Silent	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	3052956	55501405	3627578	54	2527											
DEFB119	245932	broad.mit.edu	37	chr20	29965177	29965177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaatagaggtagggctgttCgttctttttgcaagaggccc	13	8	1	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr20:29965177C>T	ENST00000376321.3	-	2	246	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DEFB119_ENST00000339144.3_3'UTR|DEFB119_ENST00000492344.1_5'UTR	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	43					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAGGGCTGTTCGTTCTTTTTG	0.433													False	0	True	20:29965177	0	T	29965177	C	T	29965177	3	4	30	1	0	0	0	0	1	0	0	0	4436	893	31	1	131	1	DEFB119	20	29965177	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		29965177	33060343	55	2528											
TRAPPC10	7109	broad.mit.edu	37	chr21	45478983	45478983	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgtatcttgggcgaataGgaggagcttgcctttgtttt	12	6	1	0			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr21:45478983G>A	ENST00000291574.4	+	6	853		c.e6-1		TRAPPC10_ENST00000380221.3_Splice_Site	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10						vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TGGGCGAATAGGAGGAGCTTG	0.448													False	0	False	21:45478983	0	A	45478983	G	A	45478983	5	1	30	1	0	0	0	0	0	0	1	0	16540	1014	35	2	700	2	TRAPPC10	21	45478983	Splice_Site	SNP	G	TCGA-3E-AAAY-01A-11D-A38G-08		45478983	2650912	56	2529											
KIF4A	24137	broad.mit.edu	37	chrX	69615826	69615826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctcccttactgaagtgCgtggtcaagtttcggagtca	10	10	3	1			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chrX:69615826C>T	ENST00000374403.3	+	22	2498	c.2416C>T	c.(2416-2418)Cgt>Tgt	p.R806C	KIF4A_ENST00000374388.3_Missense_Mutation_p.R806C	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	806	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TACTGAAGTGCGTGGTCAAGT	0.398													False	0	False	X:69615826	0	T	69615826	C	T	69615826	3	4	30	1	0	0	0	0	1	0	0	0	8353	768	27	1	2498	1	KIF4A	23	69615826	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08		69615826	85654734	57	2530											
SRPX2	27286	broad.mit.edu	37	chrX	99925874	99925874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagggtattgaccgagacCgctacatggaacctgtcacc	11	12	1	2			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chrX:99925874C>T	ENST00000373004.3	+	11	1716	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	430					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGACCGAGACCGCTACATGGA	0.512											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	X:99925874	0	T	99925874	C	T	99925874	3	4	30	1	0	0	0	0	1	0	0	0	15247	652	23	1	1326	1	SRPX2	23	99925874	Missense_Mutation	SNP	C	TCGA-3E-AAAY-01A-11D-A38G-08	30310048	99925874	55344686	58	2531											
MEGF6	1953	broad.mit.edu	37	chr1	3411193	3411193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccagctcgcagtgccgCcccgtccagcccaggccaca	9	21	1	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:3411193C>T	ENST00000356575.4	-	31	4210	c.3984G>A	c.(3982-3984)ggG>ggA	p.G1328G	MEGF6_ENST00000294599.4_Silent_p.G1093G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1328	EGF-like 24.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGCAGTGCCGCCCCGTCCAGC	0.711													False	0	True	1:3411193	0	T	3411193	C	T	3411193	2	4	31	1	0	0	0	0	0	0	0	1	9529	726	26	2		2	MEGF6	1	3411193	Silent	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		3411193	245839428	1	2532											
SPTA1	6708	broad.mit.edu	37	chr1	158605758	158605758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacaaactgagccagccGcaactggatctcctcttgcc	7	15	3	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:158605758G>A	ENST00000368147.4	-	38	5557	c.5377C>T	c.(5377-5379)Cgg>Tgg	p.R1793W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCCAGCCGCAACTGGATC	0.522													False	0	True	1:158605758	0	A	158605758	G	A	158605758	3	1	31	1	0	0	0	0	1	0	0	0	15198	1086	38	1	1942	1	SPTA1	1	158605758	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	155194565	158605758	90644863	2	2533											
CDC73	79577	broad.mit.edu	37	chr1	193111023	193111023	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaaaattgctgcaatcAaagccaaaattatggctaag	8	6	1	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:193111023A>G	ENST00000367435.3	+	7	740	c.556A>G	c.(556-558)Aaa>Gaa	p.K186E		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	186				AIKA -> CNQT (in Ref. 2; BAB15608).	cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TGCTGCAATCAAAGCCAAAAT	0.363													False	0	True	1:193111023	0	G	193111023	A	G	193111023	3	3	31	1	0	0	0	0	1	0	0	0	3108	131	5	4	582	4	CDC73	1	193111023	Missense_Mutation	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08	34505265	193111023	56139598	3	2534											
CFHR2	3080	broad.mit.edu	37	chr1	196918732	196918732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaaatccttttggactcGcataacgtgcgcagaagaag	9	9	1	2	rs144596551	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:196918732G>A	ENST00000367415.5	+	2	306	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CFHR2_ENST00000476712.2_Missense_Mutation_p.R69H|CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000367421.3_Missense_Mutation_p.R69H	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2		Sushi 1.					extracellular region		p.R69H(1)		large_intestine(2)|ovary(1)|skin(3)	6						TTTTGGACTCGCATAACGTGC	0.393													False	0	False	1:196918732	0	A	196918732	G	A	196918732	3	1	31	1	0	0	0	0	1	0	0	0	3308	1087	38	1	212	1	CFHR2	1	196918732	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	3807709	196918732	52331889	4	2535											
ZC3H11A	9877	broad.mit.edu	37	chr1	203821424	203821424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgattttgagaaactaaTatgggagatttcaggaggca	13	3	1	3			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:203821424T>C	ENST00000545588.1	+	17	6157	c.2330T>C	c.(2329-2331)aTa>aCa	p.I777T	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAAACTAATATGGGAGATT	0.473													False	0	False	1:203821424	0	C	203821424	T	C	203821424	3	2	31	1	0	0	0	0	1	0	0	0	17643	1406	49	4	2392	4	ZC3H11A	1	203821424	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08	6902692	203821424	45429197	5	2536											
NUAK2	81788	broad.mit.edu	37	chr1	205273036	205273036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatccccactcacaaacaCgtcgcctgcgtccaagagct	9	16	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:205273036C>T	ENST00000367157.3	-	7	1555	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	477					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTCACAAACACGTCGCCTGCG	0.587													False	0	False	1:205273036	0	T	205273036	C	T	205273036	3	4	31	1	0	0	0	0	1	0	0	0	10781	536	19	1	461	1	NUAK2	1	205273036	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	1451612	205273036	43977585	6	2537											
ANGEL2	90806	broad.mit.edu	37	chr1	213178773	213178773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaggtttccttcctgtccGcatcttatattcacagtgat	6	11	3	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:213178773G>A	ENST00000366962.3	-	5	890	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120W|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77W|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77W	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	246										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTTCCTGTCCGCATCTTATAT	0.368													False	0	False	1:213178773	0	A	213178773	G	A	213178773	3	1	31	1	0	0	0	0	1	0	0	0	609	1086	38	1	918	1	ANGEL2	1	213178773	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	7905737	213178773	36071848	7	2538											
URB2	9816	broad.mit.edu	37	chr1	229763503	229763503	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctttcttccaaataaagaAcaagtaagtttaatgtgaaa	6	5	1	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:229763503A>G	ENST00000258243.2	+	2	259	c.123A>G	c.(121-123)gaA>gaG	p.E41E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	41						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAAATAAAGAACAAGTAAGTT	0.294													False	0	False	1:229763503	0	G	229763503	A	G	229763503	2	3	31	1	0	0	0	0	0	0	0	1	17109	40	2	4		4	URB2	1	229763503	Silent	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08	16584730	229763503	19487118	8	2539											
NLRP3	114548	broad.mit.edu	37	chr1	247587616	247587616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacccatccacaagatcGtgagaaaaccctccagaatc	5	16	0	3	rs145092553		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr1:247587616G>A	ENST00000366497.2	+	4	1651	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	NLRP3_ENST00000336119.3_Missense_Mutation_p.V291M|NLRP3_ENST00000391827.2_Missense_Mutation_p.V291M|NLRP3_ENST00000348069.2_Missense_Mutation_p.V291M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.V291M|NLRP3_ENST00000366496.2_Missense_Mutation_p.V291M	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	291	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCACAAGATCGTGAGAAAACC	0.562													False	0	False	1:247587616	0	A	247587616	G	A	247587616	3	1	31	1	0	0	0	0	1	0	0	0	10546	1145	40	1	881	1	NLRP3	1	247587616	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	17824113	247587616	1663005	9	2540											
GREB1	9687	broad.mit.edu	37	chr2	11780474	11780474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcgccagacggtcgtccGcctggagctcgaggacgagt	15	13	0	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr2:11780474G>A	ENST00000381486.2	+	33	6044	c.5744G>A	c.(5743-5745)cGc>cAc	p.R1915H	GREB1_ENST00000234142.5_Missense_Mutation_p.R1915H|GREB1_ENST00000396123.1_Missense_Mutation_p.R913H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1915						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGGTCGTCCGCCTGGAGCTC	0.622													False	0	False	2:11780474	0	A	11780474	G	A	11780474	3	1	31	1	0	0	0	0	1	0	0	0	6807	1087	38	1	5978	1	GREB1	2	11780474	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08		11780474	231418899	10	2541											
TEKT4	150483	broad.mit.edu	37	chr2	95537525	95537526	+	In_Frame_Ins	INS	-	-	AGATCG													agtcggagcggcagcggcacINSgagagccagcagctggccac							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr2:95537525_95537526insAGATCG	ENST00000295201.4	+	1	338_339	c.201_202insAGATCG	c.(202-204)gag>AGATCGgag	p.67_68insRS	TEKT4_ENST00000427593.2_In_Frame_Ins_p.67_68insRS|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	67					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGCAGCGGCACGAGAGCCAGCA	0.673													False	0	False	2:95537525	0	AGATCG	95537526	-	AGATCG	95537525	7	5	31	1	0	1	1	0	0	0	0	0	15837	535	19	0	203	0	TEKT4	2	95537525	In_Frame_Ins	INS	-	TCGA-3E-AAAZ-01A-11D-A38G-08	83757051	95537525	147661848	11	2542											
DTYMK	1841	broad.mit.edu	37	chr2	242625239	242625239	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccgagtgatcctccacgtCacttttcttttgcaagtagg	8	12	2	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr2:242625239C>T	ENST00000305784.2	-	2	391	c.184G>A	c.(184-186)Gac>Aac	p.D62N	DTYMK_ENST00000493095.1_5'UTR	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	62					cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TCCTCCACGTCACTTTTCTTT	0.438													False	0	False	2:242625239	0	T	242625239	C	T	242625239	3	4	31	1	0	0	0	0	1	0	0	0	4828	826	29	2	470	2	DTYMK	2	242625239	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	147087714	242625239	574134	12	2543											
CHL1	10752	broad.mit.edu	37	chr3	439920	439920	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catttcttaggtaaaggtatCgggaagatatcaggagtaaa	11	4	2	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:439920C>T	ENST00000256509.2	+	25	3747	c.3105C>T	c.(3103-3105)atC>atT	p.I1035I	CHL1_ENST00000397491.2_Silent_p.I1019I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1019					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.I1035I(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GTAAAGGTATCGGGAAGATAT	0.353													False	0	True	3:439920	0	T	439920	C	T	439920	2	4	31	1	0	0	0	0	0	0	0	1	3372	874	31	1		1	CHL1	3	439920	Silent	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		439920	197582510	13	2544											
DLEC1	9940	broad.mit.edu	37	chr3	38103746	38103746	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctgaacaagaagcttgaaGattcatgcaggaagaagctt	11	6	1	5			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:38103746G>T	ENST00000308059.6	+	4	781	c.760G>T	c.(760-762)Gat>Tat	p.D254Y	DLEC1_ENST00000452631.2_Missense_Mutation_p.D254Y|DLEC1_ENST00000346219.3_Missense_Mutation_p.D254Y			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	254					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAAGCTTGAAGATTCATGCAG	0.463													False	0	False	3:38103746	0	T	38103746	G	T	38103746	3	4	31	1	0	0	0	0	1	0	0	0	4582	942	33	3	774	3	DLEC1	3	38103746	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	37663826	38103746	159918684	14	2545											
FILIP1L	11259	broad.mit.edu	37	chr3	99569205	99569205	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagagagtagcattcttGtttgcttttgttgaaagcgt	10	5	2	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:99569205G>A	ENST00000331335.5	-	5	1785	c.1315C>T	c.(1315-1317)Caa>Taa	p.Q439*	CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Nonsense_Mutation_p.Q199*|FILIP1L_ENST00000354552.3_Nonsense_Mutation_p.Q439*|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Nonsense_Mutation_p.Q199*|FILIP1L_ENST00000487087.1_Nonsense_Mutation_p.Q15*	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	439						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TAGCATTCTTGTTTGCTTTTG	0.358													False	0	True	3:99569205	0	A	99569205	G	A	99569205	4	1	31	1	0	0	0	0	0	1	0	0	5935	1386	48	2	2121	2	FILIP1L	3	99569205	Nonsense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	61465459	99569205	98453225	15	2546											
IMPG2	50939	broad.mit.edu	37	chr3	100951770	100951770	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcactttgcttctccactccAggggttgaccagacactctg	9	14	2	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:100951770A>T	ENST00000193391.7	-	15	3275	c.3088T>A	c.(3088-3090)Tgg>Agg	p.W1030R		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1030	EGF-like 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTCCACTCCAGGGGTTGACC	0.463													False	0	True	3:100951770	0	T	100951770	A	T	100951770	3	4	31	1	0	0	0	0	1	0	0	0	7779	188	7	5	657	5	IMPG2	3	100951770	Missense_Mutation	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08	1382565	100951770	97070660	16	2547											
COL6A6	131873	broad.mit.edu	37	chr3	130361862	130361862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcagtatgtgcgagaccGcagtcgtaagtaccctgctt	10	11	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr3:130361862G>A	ENST00000358511.6	+	30	5253	c.5222G>A	c.(5221-5223)cGc>cAc	p.R1741H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1741H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1741	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGCGAGACCGCAGTCGTAAG	0.393													False	0	False	3:130361862	0	A	130361862	G	A	130361862	3	1	31	1	0	0	0	0	1	0	0	0	3726	1087	38	1	5340	1	COL6A6	3	130361862	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	29410092	130361862	67660568	17	2548											
ZFR	51663	broad.mit.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	13	13	0	0	rs139769264		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483													False	0	True	5:32407029	0	T	32407029	A	T	32407029	2	4	31	1	0	0	0	0	0	0	0	1	17742	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08		32407029	148508231	18	2549											
PCDHA2	0	broad.mit.edu	37	chr5	140175222	140175222	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacctgagctcacgggcAccgttcaaatacttattaag	8	11	2	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:140175222A>G	ENST00000526136.1	+	1	673	c.673A>G	c.(673-675)Acc>Gcc	p.T225A	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.T225A|PCDHA2_ENST00000520672.2_Missense_Mutation_p.T225A	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCACGGGCACCGTTCAAAT	0.423													False	0	False	5:140175222	0	G	140175222	A	G	140175222	3	3	31	1	0	0	0	0	1	0	0	0	11592	159	6	4	675	4	PCDHA2	5	140175222	Missense_Mutation	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08	107768193	140175222	40740038	19	2550											
FAM71B	153745	broad.mit.edu	37	chr5	156590130	156590130	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgctgcacacttgctGgtcgtaatactgcctgcaaa	8	12	1	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr5:156590130G>T	ENST00000302938.4	-	2	1241	c.1146C>A	c.(1144-1146)acC>acA	p.T382T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	382						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACACTTGCTGGTCGTAATAC	0.567													False	0	False	5:156590130	0	T	156590130	G	T	156590130	2	4	31	1	0	0	0	0	0	0	0	1	5648	1335	47	3		3	FAM71B	5	156590130	Silent	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	16414908	156590130	24325130	20	2551											
GCNT2	2651	broad.mit.edu	37	chr6	10586309	10586309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagtagccaattgagcccGccaaaaagttatgagaagct	9	9	0	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:10586309G>A	ENST00000265012.4	+	1	331	c.87G>A	c.(85-87)ccG>ccA	p.P29P	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	30						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AATTGAGCCCGCCAAAAAGTT	0.403													False	0	True	6:10586309	0	A	10586309	G	A	10586309	2	1	31	1	0	0	0	0	0	0	0	1	6344	1074	38	1		1	GCNT2	6	10586309	Silent	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08		10586309	160528758	21	2552											
XPO5	57510	broad.mit.edu	37	chr6	43491668	43491668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcacctccgtctccagcaTtggctttgtttttttgaaaa	7	11	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:43491668T>C	ENST00000265351.7	-	32	3763	c.3553A>G	c.(3553-3555)Atg>Gtg	p.M1185V	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	1185					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GTCTCCAGCATTGGCTTTGTT	0.463													False	0	False	6:43491668	0	C	43491668	T	C	43491668	3	2	31	1	0	0	0	0	1	0	0	0	17531	1493	52	4	65	4	XPO5	6	43491668	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08	32905359	43491668	127623399	22	2553											
GPRC6A	0	broad.mit.edu	37	chr6	117113727	117113727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgaagtaaatgagcatgcCaaatgtaatgaatttggctt	9	4	0	3			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:117113727C>T	ENST00000310357.3	-	6	2380	c.2359G>A	c.(2359-2361)Ggc>Agc	p.G787S	GPRC6A_ENST00000368549.3_Missense_Mutation_p.G716S|GPRC6A_ENST00000530250.1_Missense_Mutation_p.G612S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	787					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATGAGCATGCCAAATGTAATG	0.378													False	0	True	6:117113727	0	T	117113727	C	T	117113727	3	4	31	1	0	0	0	0	1	0	0	0	6775	594	21	2	425	2	GPRC6A	6	117113727	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	73622059	117113727	54001340	23	2554											
TULP4	56995	broad.mit.edu	37	chr6	158922970	158922970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctggacaggtgattttcGgaagcgtggaaatgggccgc	15	8	0	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr6:158922970G>A	ENST00000367097.3	+	13	3632	c.2275G>A	c.(2275-2277)Gga>Aga	p.G759R	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	759					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGTGATTTTCGGAAGCGTGGA	0.612													False	0	False	6:158922970	0	A	158922970	G	A	158922970	3	1	31	1	0	0	0	0	1	0	0	0	16860	1117	39	1	2325	1	TULP4	6	158922970	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	41809243	158922970	12192097	24	2555											
PTPN12	0	broad.mit.edu	37	chr7	77230064	77230064	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgattctattctggacatGataagcttaatgaggaaata	8	4	2	3			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr7:77230064G>A	ENST00000248594.6	+	8	908	c.636G>A	c.(634-636)atG>atA	p.M212I	PTPN12_ENST00000435495.2_Missense_Mutation_p.M82I|PTPN12_ENST00000415482.2_Missense_Mutation_p.M93I	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	212	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTCTGGACATGATAAGCTTAA	0.328													False	0	False	7:77230064	0	A	77230064	G	A	77230064	3	1	31	1	0	0	0	0	1	0	0	0	12858	1290	45	2	666	2	PTPN12	7	77230064	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08		77230064	81908599	25	2556											
CFTR	1080	broad.mit.edu	37	chr7	117188841	117188843	+	In_Frame_Del	DEL	GTT	GTT	-													ttcaagatagaaagaggacaGttgttggcggttgctggatc							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	GTT	GTT	-	-	GTT	GTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr7:117188841_117188843delGTT	ENST00000003084.6	+	10	1488_1490	c.1356_1358delGTT	c.(1354-1359)cagttg>cag	p.L454del	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	454	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAAGAGGACAGTTGTTGGCGGTT	0.379									Cystic Fibrosis				False	2	False	7:117188841	0	-	117188843	GTT	-	117188841	7	5	31	1	0	1	0	1	0	0	0	0	3317	1020	36	0	1394	0	CFTR	7	117188841	In_Frame_Del	DEL	GTT	TCGA-3E-AAAZ-01A-11D-A38G-08	39958777	117188841	41949822	26	2557											
GRM8	0	broad.mit.edu	37	chr7	126173814	126173814	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctggtagttgtaaccttcaCagcgttcacagtgccagcag	10	12	2	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr7:126173814C>G	ENST00000339582.2	-	9	2430	c.1622G>C	c.(1621-1623)tGt>tCt	p.C541S	GRM8_ENST00000444921.2_Missense_Mutation_p.C541S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.C541S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	541					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTAACCTTCACAGCGTTCACA	0.562										HNSCC(24;0.065)			False	0	False	7:126173814	0	G	126173814	C	G	126173814	3	3	31	1	0	0	0	0	1	0	0	0	6850	478	17	5	1166	5	GRM8	7	126173814	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	8984973	126173814	32964849	27	2558											
DEFB135	613209	broad.mit.edu	37	chr8	11841997	11841997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgactgcaaggtacttgCcggccaaaatgtctaaaaaa	10	9	1	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr8:11841997C>T	ENST00000382208.2	+	2	132	c.132C>T	c.(130-132)tgC>tgT	p.C44C		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	44					defense response to bacterium	extracellular region				endometrium(1)|large_intestine(2)|prostate(1)	4						AAGGTACTTGCCGGCCAAAAT	0.373													False	0	False	8:11841997	0	T	11841997	C	T	11841997	2	4	31	1	0	0	0	0	0	0	0	1	4449	747	26	2		2	DEFB135	8	11841997	Silent	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		11841997	134522025	28	2559											
BAALC	79870	broad.mit.edu	37	chr8	104225200	104225200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccgatctacagccccaGgtggaatacccaacccagag	9	16	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr8:104225200G>A	ENST00000309982.5	+	2	402	c.214G>A	c.(214-216)Ggt>Agt	p.G72S	BAALC_ENST00000297574.6_Missense_Mutation_p.G107S|BAALC_ENST00000438105.2_Intron|RP11-318M2.2_ENST00000499522.2_RNA|RP11-318M2.2_ENST00000523614.2_RNA	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	107						centrosome|membrane|nucleus				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TACAGCCCCAGGTGGAATACC	0.577													False	0	False	8:104225200	0	A	104225200	G	A	104225200	3	1	31	1	0	0	0	0	1	0	0	0	1283	1000	35	2	220	2	BAALC	8	104225200	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	92383203	104225200	42138822	29	2560											
C9orf3	84909	broad.mit.edu	37	chr9	97843044	97843044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctacaaaagtgtggagagGttccttcaggaggatcaggt	14	7	2	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:97843044G>T	ENST00000375315.2	+	14	2301	c.2301G>T	c.(2299-2301)agG>agT	p.R767S	C9orf3_ENST00000297979.5_Missense_Mutation_p.R668S|C9orf3_ENST00000433691.2_Missense_Mutation_p.R108S|C9orf3_ENST00000425634.2_Missense_Mutation_p.R129S	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	767					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GTGTGGAGAGGTTCCTTCAGG	0.502													False	0	False	9:97843044	0	T	97843044	G	T	97843044	3	4	31	1	0	0	0	0	1	0	0	0	2497	1252	44	3	2050	3	C9orf3	9	97843044	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08		97843044	43370387	30	2561											
OR1N2	138882	broad.mit.edu	37	chr9	125315452	125315452	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taaataaatactgacacatgGaaggtttttatctgcgcaga	8	6	1	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:125315452G>T	ENST00000373688.2	+	1	62	c.4G>T	c.(4-6)Gaa>Taa	p.E2*		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTGACACATGGAAGGTTTTTA	0.408													False	0	False	9:125315452	0	T	125315452	G	T	125315452	4	4	31	1	0	0	0	0	0	1	0	0	11038	1175	41	3	6	3	OR1N2	9	125315452	Nonsense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	27472408	125315452	15897979	31	2562											
TRAF2	7186	broad.mit.edu	37	chr9	139795034	139795034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtcgggagtcgtccacgctCcccaagcagttatgaccttg	11	13	0	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:139795034C>T	ENST00000359662.3	+	4	473	c.428C>T	c.(427-429)tCc>tTc	p.S143F	TRAF2_ENST00000247668.2_Intron|TRAF2_ENST00000536468.1_Intron			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	125					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CGTCCACGCTCCCCAAGCAGT	0.557													False	0	True	9:139795034	0	T	139795034	C	T	139795034	3	4	31	1	0	0	0	0	1	0	0	0	16521	870	30	2		2	TRAF2	9	139795034	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	14479582	139795034	1418397	32	2563											
CACNA1B	774	broad.mit.edu	37	chr9	141014657	141014657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaagcgctccatctccaCgctggcccagcggccccgtg	11	18	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr9:141014657C>T	ENST00000277549.5	+	45	6222	c.3653C>T	c.(3652-3654)aCg>aTg	p.T1218M	CACNA1B_ENST00000371357.1_Missense_Mutation_p.T2023M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.T2025M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.T2024M|CACNA1B_ENST00000371372.1_Missense_Mutation_p.T2024M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T2022M			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2024					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCATCTCCACGCTGGCCCAG	0.687													False	0	False	9:141014657	0	T	141014657	C	T	141014657	3	4	31	1	0	0	0	0	1	0	0	0	2559	536	19	1	6245	1	CACNA1B	9	141014657	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	1219623	141014657	198774	33	2564											
FRMD4A	55691	broad.mit.edu	37	chr10	13696478	13696478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctccaatttcacttgaCggtgtcgagcttctctggct	11	11	2	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr10:13696478C>T	ENST00000357447.2	-	23	3356	c.2988G>A	c.(2986-2988)ccG>ccA	p.P996P	FRMD4A_ENST00000378503.1_Silent_p.P996P|FRMD4A_ENST00000358621.4_Silent_p.P981P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	996	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTTCACTTGACGGTGTCGAGC	0.547													False	0	False	10:13696478	0	T	13696478	C	T	13696478	2	4	31	1	0	0	0	0	0	0	0	1	6093	523	19	1		1	FRMD4A	10	13696478	Silent	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		13696478	121838269	34	2565											
IGSF22	283284	broad.mit.edu	37	chr11	18738405	18738405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggacaccgtgatttcataCttgtcatccctcttcagctc	6	14	4	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:18738405C>A	ENST00000513874.1	-	10	1255	c.1116G>T	c.(1114-1116)aaG>aaT	p.K372N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	372										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGATTTCATACTTGTCATCCC	0.527													False	0	False	11:18738405	0	A	18738405	C	A	18738405	3	1	31	1	0	0	0	0	1	0	0	0	7650	564	20	3	2920	3	IGSF22	11	18738405	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		18738405	116268111	35	2566											
OR5M3	219482	broad.mit.edu	37	chr11	56237502	56237502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagccgtaagtccataatgTtgctgccagactcgtcagaa	9	11	1	2	rs148100298	by1000genomes	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:56237502T>C	ENST00000312240.2	-	1	512	c.472A>G	c.(472-474)Aca>Gca	p.T158A		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T158A(1)|p.T158P(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GTCCATAATGTTGCTGCCAGA	0.428													False	0	False	11:56237502	0	C	56237502	T	C	56237502	3	2	31	1	0	0	0	0	1	0	0	0	11243	1725	60	4	453	4	OR5M3	11	56237502	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08	37499097	56237502	78769014	36	2567											
MUS81	80198	broad.mit.edu	37	chr11	65632538	65632539	+	Frame_Shift_Del	DEL	AG	AG	-													acccctgggaaccctgaatcAggggccatgacctctccaaa							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:65632538_65632539delAG	ENST00000308110.4	+	13	1672_1673	c.1323_1324delAG	c.(1321-1326)tcagggfs	p.G442fs	MUS81_ENST00000533035.1_Frame_Shift_Del_p.G367fs	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	442					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		ACCCTGAATCAGGGGCCATGAC	0.589								Homologous recombination					False	1	True	11:65632538	0	-	65632539	AG	-	65632538	7	5	31	1	0	1	0	1	0	0	0	0	10055	175	7	0	1373	0	MUS81	11	65632538	Frame_Shift_Del	DEL	AG	TCGA-3E-AAAZ-01A-11D-A38G-08	9395036	65632538	69373978	37	2568											
PRKRIR	5612	broad.mit.edu	37	chr11	76063580	76063580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaatttatccgacactccAgcagtgcctgaaagttatct	7	11	1	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:76063580A>G	ENST00000260045.3	-	5	719	c.614T>C	c.(613-615)cTg>cCg	p.L205P		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	205					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CCGACACTCCAGCAGTGCCTG	0.438													False	0	False	11:76063580	0	G	76063580	A	G	76063580	3	3	31	1	0	0	0	0	1	0	0	0	12602	188	7	4	1675	4	PRKRIR	11	76063580	Missense_Mutation	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08	10431042	76063580	58942936	38	2569											
ATM	472	broad.mit.edu	37	chr11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaagtattcttcaggatttCgtaatattgccgtcaaagaa	8	6	3	1	rs138398778		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr11:108117798C>T	ENST00000278616.4	+	8	1394	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_ENST00000452508.2_Missense_Mutation_p.R337C	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCAGGATTTCGTAATATTGC	0.323			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			False	0	True	11:108117798	0	T	108117798	C	T	108117798	3	4	31	1	0	0	0	0	1	0	0	0	1113	884	31	1	1035	1	ATM	11	108117798	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	32054218	108117798	26888718	39	2570											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	31	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		25398284	108453611	40	2571											
AVPR1A	0	broad.mit.edu	37	chr12	63543857	63543857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcacccttgctctggcGcgacgccgtcttcccgcgga	11	18	3	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:63543857G>A	ENST00000299178.2	-	1	865	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	254					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.R254C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTGCTCTGGCGCGACGCCGTC	0.617													False	0	False	12:63543857	0	A	63543857	G	A	63543857	3	1	31	1	0	0	0	0	1	0	0	0	1235	1087	38	1	504	1	AVPR1A	12	63543857	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	38145573	63543857	70308038	41	2572											
MDM1	56890	broad.mit.edu	37	chr12	68719231	68719231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaagctacctgattggctGcaaaagctggagcagtttct	10	8	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:68719231G>A	ENST00000303145.7	-	4	709	c.623C>T	c.(622-624)gCa>gTa	p.A208V	MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000545724.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	208						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGATTGGCTGCAAAAGCTGG	0.338													False	0	False	12:68719231	0	A	68719231	G	A	68719231	3	1	31	1	0	0	0	0	1	0	0	0	9479	1319	46	2	1565	2	MDM1	12	68719231	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	5175374	68719231	65132664	42	2573											
ANAPC7	51434	broad.mit.edu	37	chr12	110815272	110815272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggctttatctaataatgttTtggctttctcctgtgtcact	8	8	3	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:110815272T>C	ENST00000455511.3	-	9	1385	c.1385A>G	c.(1384-1386)aAa>aGa	p.K462R	ANAPC7_ENST00000450008.2_Missense_Mutation_p.K462R|ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	462					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TAATAATGTTTTGGCTTTCTC	0.423													False	0	True	12:110815272	0	C	110815272	T	C	110815272	3	2	31	1	0	0	0	0	1	0	0	0	606	1841	64	4	430	4	ANAPC7	12	110815272	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08	42096041	110815272	23036623	43	2574											
LHX5	64211	broad.mit.edu	37	chr12	113906184	113906184	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcctggaggtccggggaCaaactgcggtccgtacagga	16	11	0	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:113906184C>G	ENST00000261731.3	-	3	996	c.423G>C	c.(421-423)ttG>ttC	p.L141F		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	141						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GGTCCGGGGACAAACTGCGGT	0.642													False	0	True	12:113906184	0	G	113906184	C	G	113906184	3	3	31	1	0	0	0	0	1	0	0	0	8826	477	17	5	797	5	LHX5	12	113906184	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	3090912	113906184	19945711	44	2575											
MLEC	9761	broad.mit.edu	37	chr12	121134267	121134267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccaacccctatgcctcGgacaacagcagcctcatgtt	6	17	1	0	rs144716658		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:121134267G>A	ENST00000412616.2	+	3	615	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	MLEC_ENST00000228506.3_Silent_p.S266S|MLEC_ENST00000535413.1_3'UTR			Q14165	MLEC_HUMAN	malectin	266					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CCTATGCCTCGGACAACAGCA	0.502													False	0	False	12:121134267	0	A	121134267	G	A	121134267	3	1	31	1	0	0	0	0	1	0	0	0	9680	1103	39	1	816	1	MLEC	12	121134267	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	7228083	121134267	12717628	45	2576											
DNAH10	196385	broad.mit.edu	37	chr12	124326011	124326011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgtggaggactggatgaCggcagttttgaatgagatga	17	5	0	4			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr12:124326011C>T	ENST00000409039.3	+	29	4950	c.4925C>T	c.(4924-4926)aCg>aTg	p.T1642M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1642	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACTGGATGACGGCAGTTTTG	0.463													False	0	False	12:124326011	0	T	124326011	C	T	124326011	3	4	31	1	0	0	0	0	1	0	0	0	4628	536	19	1	5039	1	DNAH10	12	124326011	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	3191744	124326011	9525884	46	2577											
MYO16	23026	broad.mit.edu	37	chr13	109777647	109777647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctccgtagtgaaatgaaCgctccctaccataaagagaa	9	11	0	3			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr13:109777647C>T	ENST00000356711.2	+	30	3783	c.3657C>T	c.(3655-3657)aaC>aaT	p.N1219N	MYO16_ENST00000457511.2_Silent_p.N731N|MYO16_ENST00000357550.2_Silent_p.N1219N	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1219					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GTGAAATGAACGCTCCCTACC	0.458													False	0	False	13:109777647	0	T	109777647	C	T	109777647	2	4	31	1	0	0	0	0	0	0	0	1	10131	535	19	1		1	MYO16	13	109777647	Silent	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		109777647	5392231	47	2578											
BAHD1	22893	broad.mit.edu	37	chr15	40756141	40756141	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tccgagtccgggacaccgtcCttctcaaatcaggcccacga	9	16	2	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr15:40756141C>G	ENST00000561234.1	+	4	2153	c.1894C>G	c.(1894-1896)Ctt>Gtt	p.L632V	BAHD1_ENST00000560846.1_Missense_Mutation_p.L633V|BAHD1_ENST00000416165.1_Missense_Mutation_p.L633V			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	633	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GGACACCGTCCTTCTCAAATC	0.592													False	0	False	15:40756141	0	G	40756141	C	G	40756141	3	3	31	1	0	0	0	0	1	0	0	0	1301	681	24	5	1907	5	BAHD1	15	40756141	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		40756141	61775251	48	2579											
LINGO1	84894	broad.mit.edu	37	chr15	77906745	77906745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggagtcgttgccgcccgCgttggccgcgatgcacaggt	15	13	0	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr15:77906745C>T	ENST00000355300.6	-	2	1678	c.1504G>A	c.(1504-1506)Gcg>Acg	p.A502T	LINGO1_ENST00000561030.1_Missense_Mutation_p.A496T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	502	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TTGCCGCCCGCGTTGGCCGCG	0.637													False	0	True	15:77906745	0	T	77906745	C	T	77906745	3	4	31	1	0	0	0	0	1	0	0	0	8867	768	27	1	362	1	LINGO1	15	77906745	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	37150604	77906745	24624647	49	2580											
HS3ST6	64711	broad.mit.edu	37	chr16	1962193	1962193	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgcccatccagggttcGgggcatcagactcctgcggg	14	13	2	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:1962193G>A	ENST00000454677.2	-	2	543	c.478C>T	c.(478-480)Cga>Tga	p.R160*	HS3ST6_ENST00000443547.1_Nonsense_Mutation_p.R112*|HS3ST6_ENST00000293937.3_Nonsense_Mutation_p.R143*			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	112										endometrium(2)|lung(2)	4						TCCAGGGTTCGGGGCATCAGA	0.692													False	0	True	16:1962193	0	A	1962193	G	A	1962193	4	1	31	1	0	0	0	0	0	1	0	0	7416	1124	39	1	605	1	HS3ST6	16	1962193	Nonsense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08		1962193	88392560	50	2581											
DNAH3	55567	broad.mit.edu	37	chr16	21049118	21049118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttgcgctaagaacttggCcagattgacatcaagcaatg	9	9	2	3			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:21049118C>T	ENST00000261383.3	-	34	4914	c.4915G>A	c.(4915-4917)Gcc>Acc	p.A1639T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1639T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1639					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGAACTTGGCCAGATTGACA	0.498													False	0	False	16:21049118	0	T	21049118	C	T	21049118	3	4	31	1	0	0	0	0	1	0	0	0	4633	739	26	2	7550	2	DNAH3	16	21049118	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	19086925	21049118	69305635	51	2582											
ZNF688	146542	broad.mit.edu	37	chr16	30581656	30581656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagctgggtcagggttgcGttccaccagcacttcaggac	12	11	2	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:30581656G>A	ENST00000223459.6	-	3	1516	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	ZNF688_ENST00000395219.1_Missense_Mutation_p.R124C	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCAGGGTTGCGTTCCACCAGC	0.607													False	0	False	16:30581656	0	A	30581656	G	A	30581656	3	1	31	1	0	0	0	0	1	0	0	0	18176	1145	40	1	422	1	ZNF688	16	30581656	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	9532538	30581656	59773097	52	2583											
CPNE2	221184	broad.mit.edu	37	chr16	57153169	57153169	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggagacgatggcaagtgGatgctggtccacaggactga	15	9	0	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:57153169G>A	ENST00000535318.2	+	7	931	c.570G>A	c.(568-570)tgG>tgA	p.W190*	CPNE2_ENST00000537605.1_Nonsense_Mutation_p.W88*|CPNE2_ENST00000565874.1_Nonsense_Mutation_p.W190*|CPNE2_ENST00000290776.8_Nonsense_Mutation_p.W190*			Q96FN4	CPNE2_HUMAN	copine II	190	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				ATGGCAAGTGGATGCTGGTCC	0.582													False	0	False	16:57153169	0	A	57153169	G	A	57153169	4	1	31	1	0	0	0	0	0	1	0	0	3835	1183	41	2	588	2	CPNE2	16	57153169	Nonsense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	26571513	57153169	33201584	53	2584											
ZNF821	55565	broad.mit.edu	37	chr16	71894200	71894200	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggcctcccgatcccgctgCagccggcgtgcccgctgctc	12	19	0	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:71894200C>A	ENST00000425432.1	-	8	1339	c.960G>T	c.(958-960)ctG>ctT	p.L320L	ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_Silent_p.L278L|ZNF821_ENST00000446827.2_Silent_p.L278L|ZNF821_ENST00000565601.1_Silent_p.L320L|ZNF821_ENST00000564134.1_3'UTR	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						GATCCCGCTGCAGCCGGCGTG	0.672													False	0	False	16:71894200	0	A	71894200	C	A	71894200	2	1	31	1	0	0	0	0	0	0	0	1	18260	697	25	3		3	ZNF821	16	71894200	Silent	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	14741031	71894200	18460553	54	2585											
CHMP1A	5119	broad.mit.edu	37	chr16	89718035	89718035	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgccttcttggccagcttcTccagctgcttcgccgtgaac	9	17	2	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr16:89718035T>C	ENST00000397901.3	-	3	303	c.47A>G	c.(46-48)gAg>gGg	p.E16G	CHMP1A_ENST00000550102.1_Missense_Mutation_p.E16G|CHMP1A_ENST00000535997.2_5'UTR|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000253475.5_Silent_p.G9G	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	16					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GGCCAGCTTCTCCAGCTGCTT	0.632													False	0	False	16:89718035	0	C	89718035	T	C	89718035	3	2	31	1	0	0	0	0	1	0	0	0	3375	1551	54	4	715	4	CHMP1A	16	89718035	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08	17823835	89718035	636718	55	2586											
SLC16A13	201232	broad.mit.edu	37	chr17	6941599	6941599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcacatttgcccccTttttccagtggctgctcagc	6	17	2	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:6941599T>C	ENST00000308027.6	+	3	780	c.472T>C	c.(472-474)Ttt>Ctt	p.F158L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	158						integral to membrane|plasma membrane	symporter activity	p.F158L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTTGCCCCCTTTTTCCAGTG	0.652													False	0	True	17:6941599	0	C	6941599	T	C	6941599	3	2	31	1	0	0	0	0	1	0	0	0	14487	1609	56	4	482	4	SLC16A13	17	6941599	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08		6941599	74253611	56	2587											
COASY	80347	broad.mit.edu	37	chr17	40714982	40714982	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacccgccagaagtcgtGttgacagatttccagaccct	9	15	0	4			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:40714982G>A	ENST00000449624.1	+	0	178				COASY_ENST00000421097.2_Silent_p.V114V|COASY_ENST00000393818.2_Silent_p.V114V|COASY_ENST00000420359.1_Silent_p.V114V|COASY_ENST00000590958.1_Silent_p.V143V			Q13057	COASY_HUMAN	CoA synthase						coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGAAGTCGTGTTGACAGATT	0.562													False	0	False	17:40714982	0	A	40714982	G	A	40714982	1	1	31	1	0	0	0	0	0	0	0	0	3675	1364	48	2		2	COASY	17	40714982	Translation_Start_Site	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	33773383	40714982	40480228	57	2588											
C17orf53	78995	broad.mit.edu	37	chr17	42225373	42225373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgttacaccccactgctCcctcagaggctttgggcctg	10	15	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:42225373C>T	ENST00000319977.4	+	3	439	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	C17orf53_ENST00000245382.6_Missense_Mutation_p.P68S|C17orf53_ENST00000585683.1_Missense_Mutation_p.P68S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	68										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCCCACTGCTCCCTCAGAGGC	0.622													False	0	True	17:42225373	0	T	42225373	C	T	42225373	3	4	31	1	0	0	0	0	1	0	0	0	1874	855	30	2	212	2	C17orf53	17	42225373	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	1510391	42225373	38969837	58	2589											
RNF43	54894	broad.mit.edu	37	chr17	56440904	56440904	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacctgctcagcagcagctcGatcctcagtgatgtcaaaga	9	12	3	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:56440904G>A	ENST00000584437.1	-	3	2388	c.433C>T	c.(433-435)Cga>Tga	p.R145*	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R18*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R104*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R145*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R18*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R104*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R145*			Q68DV7	RNF43_HUMAN	ring finger protein 43	145						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.R145*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGCAGCTCGATCCTCAGTG	0.597													False	0	False	17:56440904	0	A	56440904	G	A	56440904	4	1	31	1	0	0	0	0	0	1	0	0	13574	1066	37	1	1946	1	RNF43	17	56440904	Nonsense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	14215531	56440904	24754306	59	2590											
ENPP7	339221	broad.mit.edu	37	chr17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgccatggcccgagacGgggtgaaggcacgctacatg	16	11	0	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	61					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647													False	0	True	17:77705082	0	A	77705082	G	A	77705082	3	1	31	1	0	0	0	0	1	0	0	0	5167	1116	39	1	183	1	ENPP7	17	77705082	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	21264178	77705082	3490128	60	2591											
SMAD2	4087	broad.mit.edu	37	chr18	45368211	45368211	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgaagctttatgacatgcttGagcaacgcactgaaggggat	12	7	0	4			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr18:45368211G>C	ENST00000402690.2	-	11	1785	c.1391C>G	c.(1390-1392)tCa>tGa	p.S464*	SMAD2_ENST00000356825.4_Nonsense_Mutation_p.S434*|SMAD2_ENST00000262160.6_Nonsense_Mutation_p.S464*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.S434*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	464	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	p.S464*(4)|p.R462fs*>4(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TGACATGCTTGAGCAACGCAC	0.423													False	0	False	18:45368211	0	C	45368211	G	C	45368211	4	2	31	1	0	0	0	0	0	1	0	0	14838	1294	45	5	16	5	SMAD2	18	45368211	Nonsense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08		45368211	32709037	61	2592											
SMAD4	4089	broad.mit.edu	37	chr18	48591889	48591889	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctattgttactgttgAtggatacgtggacccttctg	10	10	1	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr18:48591889A>C	ENST00000342988.3	+	9	1590	c.1052A>C	c.(1051-1053)gAt>gCt	p.D351A	SMAD4_ENST00000398417.2_Missense_Mutation_p.D351A|SMAD4_ENST00000588745.1_Missense_Mutation_p.D255A	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	351	MH2.		D -> N (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTTACTGTTGATGGATACGTG	0.438													False	0	False	18:48591889	0	C	48591889	A	C	48591889	3	2	31	1	0	0	0	0	1	0	0	0	14840	333	12	4	1082	4	SMAD4	18	48591889	Missense_Mutation	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08	3223678	48591889	29485359	62	2593											
ZNF98	148198	broad.mit.edu	37	chr19	22575373	22575373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtagaaaggtttgaggCctcattataggctttcccac	10	8	1	2	rs140852501	by1000genomes	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:22575373C>T	ENST00000357774.5	-	4	785	c.664G>A	c.(664-666)Gcc>Acc	p.A222T		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGGTTTGAGGCCTCATTATAG	0.383													False	0	False	19:22575373	0	T	22575373	C	T	22575373	3	4	31	1	0	0	0	0	1	0	0	0	18285	739	26	2	1058	2	ZNF98	19	22575373	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		22575373	36553610	63	2594											
NUDT19	390916	broad.mit.edu	37	chr19	33183406	33183406	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacccgcgccacttcctgcgGctgtgcgcccacctcgactg	11	19	0	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:33183406G>C	ENST00000397061.3	+	1	540	c.540G>C	c.(538-540)cgG>cgC	p.R180R		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	180	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					ACTTCCTGCGGCTGTGCGCCC	0.731													False	0	False	19:33183406	0	C	33183406	G	C	33183406	2	2	31	1	0	0	0	0	0	0	0	1	10804	1190	42	5		5	NUDT19	19	33183406	Silent	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	10608033	33183406	25945577	64	2595											
ZNF382	84911	broad.mit.edu	37	chr19	37118421	37118421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcattgtccatcagaaaaCtcacaaggtagaaaccacgg	7	12	3	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:37118421C>T	ENST00000435416.1	+	3	3114	c.1619C>T	c.(1618-1620)aCt>aTt	p.T540I	ZNF382_ENST00000439428.1_Missense_Mutation_p.T540I|ZNF382_ENST00000292928.2_Missense_Mutation_p.T541I|ZNF382_ENST00000423582.1_Missense_Mutation_p.T492I			Q96SR6	ZN382_HUMAN	zinc finger protein 382	541	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATCAGAAAACTCACAAGGTA	0.383													False	0	True	19:37118421	0	T	37118421	C	T	37118421	3	4	31	1	0	0	0	0	1	0	0	0	17956	565	20	2	1632	2	ZNF382	19	37118421	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	3935015	37118421	22010562	65	2596											
ZNF585B	92285	broad.mit.edu	37	chr19	37676154	37676154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggctgctctgatgaacaCtgaacactgatttctgaacg	10	10	2	5			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:37676154C>T	ENST00000532828.2	-	5	2536	c.2285G>A	c.(2284-2286)aGt>aAt	p.S762N	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S707N|ZNF585B_ENST00000312908.5_Missense_Mutation_p.S350N|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	762					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGATGAACACTGAACACTGA	0.463													False	0	True	19:37676154	0	T	37676154	C	T	37676154	3	4	31	1	0	0	0	0	1	0	0	0	18101	565	20	2	28	2	ZNF585B	19	37676154	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	557733	37676154	21452829	66	2597											
RSPH6A	81492	broad.mit.edu	37	chr19	46307696	46307696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgacctgcgtggcggcCgagatgcgggctatctgggc	19	11	1	2	rs146411467		TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:46307696C>T	ENST00000221538.3	-	3	1609	c.1467G>A	c.(1465-1467)tcG>tcA	p.S489S	RSPH6A_ENST00000597055.1_Silent_p.S489S|RSPH6A_ENST00000600188.1_Silent_p.S225S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	489						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GCGTGGCGGCCGAGATGCGGG	0.642													False	0	False	19:46307696	0	T	46307696	C	T	46307696	2	4	31	1	0	0	0	0	0	0	0	1	13786	639	23	1		1	RSPH6A	19	46307696	Silent	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	8631542	46307696	12821287	67	2598											
SAE1	10055	broad.mit.edu	37	chr19	47646755	47646755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtttgtcttacaggctgCgggcctctcgggtgcttctt	12	10	3	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:47646755C>T	ENST00000413379.3	+	2	205	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000598840.1_Missense_Mutation_p.R35W|SAE1_ENST00000392776.3_Missense_Mutation_p.R35W|SAE1_ENST00000270225.7_Missense_Mutation_p.R35W	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	35					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	p.R35W(2)		endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTACAGGCTGCGGGCCTCTCG	0.458													False	0	True	19:47646755	0	T	47646755	C	T	47646755	3	4	31	1	0	0	0	0	1	0	0	0	13884	759	27	1	109	1	SAE1	19	47646755	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	1339059	47646755	11482228	68	2599											
CGB2	114336	broad.mit.edu	37	chr19	49535356	49535356	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgctaagagagagacatgTcaaaggtagggtagatcgac	13	8	1	3			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:49535356T>C	ENST00000359342.6	+	1	122	c.4T>C	c.(4-6)Tca>Cca	p.S2P	CTB-60B18.6_ENST00000591656.1_Intron	NM_033378.1	NP_203696.2			chorionic gonadotropin, beta polypeptide 2									p.S2P(1)		large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GAGAGACATGTCAAAGGTAGG	0.547													False	0	False	19:49535356	0	C	49535356	T	C	49535356	3	2	31	1	0	0	0	0	1	0	0	0	3321	1667	58	4	6	4	CGB2	19	49535356	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08	1888601	49535356	9593627	69	2600											
LILRB5	0	broad.mit.edu	37	chr19	54759236	54759236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctgtactggcccccgtGggagcggctcacagggccca	14	15	2	0	rs685082	byFrequency	TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:54759236G>A	ENST00000450632.1	-	5	915	c.838C>T	c.(838-840)Cac>Tac	p.H280Y	LILRB5_ENST00000449561.2_Missense_Mutation_p.H289Y|LILRB5_ENST00000345866.6_Missense_Mutation_p.H189Y|LILRB5_ENST00000316219.5_Missense_Mutation_p.H289Y			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	289	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCCCCGTGGGAGCGGCTC	0.672													False	0	True	19:54759236	0	A	54759236	G	A	54759236	3	1	31	1	0	0	0	0	1	0	0	0	8846	1348	47	2	946	2	LILRB5	19	54759236	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	5223880	54759236	4369747	70	2601											
NLRP2	55655	broad.mit.edu	37	chr19	55494938	55494938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggaggtgatggctcaGttcaaagaaatatccctgca	12	7	2	3			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr19:55494938G>A	ENST00000543010.1	+	6	2015	c.1872G>A	c.(1870-1872)caG>caA	p.Q624Q	NLRP2_ENST00000391721.4_Silent_p.Q600Q|NLRP2_ENST00000263437.6_Silent_p.Q621Q|NLRP2_ENST00000339757.7_Silent_p.Q602Q|NLRP2_ENST00000537859.1_Silent_p.Q602Q|NLRP2_ENST00000538819.1_Silent_p.Q600Q|NLRP2_ENST00000427260.2_Silent_p.Q601Q|NLRP2_ENST00000448584.2_Silent_p.Q624Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	624					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGATGGCTCAGTTCAAAGAAA	0.502													False	0	False	19:55494938	0	A	55494938	G	A	55494938	2	1	31	1	0	0	0	0	0	0	0	1	10545	1020	36	2		2	NLRP2	19	55494938	Silent	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08	735702	55494938	3634045	71	2602											
SIRPA	140885	broad.mit.edu	37	chr20	1902132	1902132	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagtcccacggcttctcAcccagagacatcaccctgaa	8	16	2	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:1902132A>T	ENST00000358771.4	+	3	680	c.528A>T	c.(526-528)tcA>tcT	p.S176S	SIRPA_ENST00000400068.3_Silent_p.S176S|SIRPA_ENST00000356025.3_Silent_p.S176S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	176	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.S176S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACGGCTTCTCACCCAGAGACA	0.582													False	0	True	20:1902132	0	T	1902132	A	T	1902132	2	4	31	1	0	0	0	0	0	0	0	1	14413	146	6	5		5	SIRPA	20	1902132	Silent	SNP	A	TCGA-3E-AAAZ-01A-11D-A38G-08		1902132	61123388	72	2603											
PDYN	5173	broad.mit.edu	37	chr20	1961195	1961195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcctcttggggtatttgCgcaaaaagcccccatagcgt	10	12	1	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:1961195C>T	ENST00000217305.2	-	4	764	c.539G>A	c.(538-540)cGc>cAc	p.R180H	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R180H|PDYN_ENST00000539905.1_Missense_Mutation_p.R180H	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGGTATTTGCGCAAAAAGCC	0.602													False	0	False	20:1961195	0	T	1961195	C	T	1961195	3	4	31	1	0	0	0	0	1	0	0	0	11767	768	27	1	229	1	PDYN	20	1961195	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	59063	1961195	61064325	73	2604											
SEL1L2	80343	broad.mit.edu	37	chr20	13846127	13846127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtcaggaatttctcagCccagtggcctagttcacaga	10	11	3	1			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:13846127C>T	ENST00000284951.5	-	16	1512	c.1438G>A	c.(1438-1440)Gct>Act	p.A480T	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	480						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AATTTCTCAGCCCAGTGGCCT	0.433													False	0	True	20:13846127	0	T	13846127	C	T	13846127	3	4	31	1	0	0	0	0	1	0	0	0	14092	739	26	2	648	2	SEL1L2	20	13846127	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08	11884932	13846127	49179393	74	2605											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-													atgcagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55													False	1	True	20:46279833	0	-	46279834	GC	-	46279833	7	5	31	1	0	1	0	1	0	0	0	0	10298	962	34	0	3859	0	NCOA3	20	46279833	Frame_Shift_Del	DEL	GC	TCGA-3E-AAAZ-01A-11D-A38G-08	32433706	46279833	16745687	75	2606											
BACH1	571	broad.mit.edu	37	chr21	30693720	30693720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgatgtcaccatctttgTggagggacagcggttccgcg	15	10	2	0			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr21:30693720T>C	ENST00000399921.1	+	2	362	c.119T>C	c.(118-120)gTg>gCg	p.V40A	BACH1_ENST00000286800.3_Missense_Mutation_p.V40A	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	40	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ACCATCTTTGTGGAGGGACAG	0.517													False	0	False	21:30693720	0	C	30693720	T	C	30693720	3	2	31	1	0	0	0	0	1	0	0	0	1287	1696	59	4	121	4	BACH1	21	30693720	Missense_Mutation	SNP	T	TCGA-3E-AAAZ-01A-11D-A38G-08		30693720	17436175	76	2607											
PES1	23481	broad.mit.edu	37	chr22	30976083	30976083	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccaggccggtcgacaatctGatgggtgatgcgggagtctg	16	10	2	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chr22:30976083G>T	ENST00000402281.1	-	13	1700	c.709C>A	c.(709-711)Cag>Aag	p.Q237K	PES1_ENST00000402284.3_Missense_Mutation_p.Q359K|PES1_ENST00000354694.7_Missense_Mutation_p.Q376K|PES1_ENST00000335214.6_Missense_Mutation_p.Q371K|PES1_ENST00000405677.1_Missense_Mutation_p.Q237K	NM_001282327.1	NP_001269256.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	376	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TCGACAATCTGATGGGTGATG	0.577													False	0	False	22:30976083	0	T	30976083	G	T	30976083	3	4	31	1	0	0	0	0	1	0	0	0	11801	1299	45	3	660	3	PES1	22	30976083	Missense_Mutation	SNP	G	TCGA-3E-AAAZ-01A-11D-A38G-08		30976083	20328483	77	2608											
HTR2C	3358	broad.mit.edu	37	chrX	114082716	114082716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagcatagccgtttcaattCgcggactaaggccatcatga	10	10	2	2			TCGA-3E-AAAZ-01A-11D-A38G-08	TCGA-3E-AAAZ-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2be6181-6c54-4ab7-bea5-d5f94e8b65e5	a03f6870-eb79-4f62-9b59-5e12dffc9a97	g.chrX:114082716C>T	ENST00000276198.1	+	5	1228	c.500C>T	c.(499-501)tCg>tTg	p.S167L	HTR2C_ENST00000371951.1_Missense_Mutation_p.S167L|HTR2C_ENST00000371950.3_Intron	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	167					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.S167L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CGTTTCAATTCGCGGACTAAG	0.408													False	0	False	X:114082716	0	T	114082716	C	T	114082716	3	4	31	1	0	0	0	0	1	0	0	0	7493	893	31	1	510	1	HTR2C	23	114082716	Missense_Mutation	SNP	C	TCGA-3E-AAAZ-01A-11D-A38G-08		114082716	41187844	78	2609											
TMEM82	388595	broad.mit.edu	37	chr1	16069389	16069389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaaagtttacttcttcGtgggctgtgccaagtgagtg	12	8	1	2			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:16069389G>A	ENST00000375782.1	+	2	286	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	TMEM82_ENST00000465575.1_Intron|RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	50	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTACTTCTTCGTGGGCTGTGC	0.662													False	0	False	1:16069389	0	A	16069389	G	A	16069389	3	1	32	1	0	0	0	0	1	0	0	0	16288	1145	40	1	154	1	TMEM82	1	16069389	Missense_Mutation	SNP	G	TCGA-F2-6879-01A-11D-2154-08		16069389	233181232	1	2610											
HMGB4	127540	broad.mit.edu	37	chr1	34329926	34329927	+	In_Frame_Ins	INS	-	-	CTGTAC													aaagagttctctagaaagtgINSttcggaaaaatggagatcca							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:34329926_34329927insCTGTAC	ENST00000522796.1	+	4	2039_2040	c.134_135insCTGTAC	c.(133-138)tgttcg>tgCTGTACttcg	p.45_46CS>CCTS	HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_In_Frame_Ins_p.45_46CS>CCTS			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	45						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCTAGAAAGTGTTCGGAAAAAT	0.396													False	0	False	1:34329926	0	CTGTAC	34329927	-	CTGTAC	34329926	7	5	32	1	0	1	1	0	0	0	0	0	7275	1377	48	0	136	0	HMGB4	1	34329926	In_Frame_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	18260537	34329926	214920695	2	2611											
RSPO1	284654	broad.mit.edu	37	chr1	38079563	38079563	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcgctcatttcacattgCgctggcaggaagagaaggga	12	10	2	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:38079563C>T	ENST00000356545.2	-	7	1225	c.438G>A	c.(436-438)gcG>gcA	p.A146A	RSPO1_ENST00000373059.1_Splice_Site_p.A119A|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401068.1_Splice_Site_p.A146A|RSPO1_ENST00000401069.1_Splice_Site_p.A146A|RSPO1_ENST00000401071.2_Intron	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	146					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCACATTGCGCTGGCAGGA	0.617													False	0	False	1:38079563	0	T	38079563	C	T	38079563	5	4	32	1	0	0	0	0	0	0	1	0	13788	782	27	1	361	1	RSPO1	1	38079563	Splice_Site	SNP	C	TCGA-F2-6879-01A-11D-2154-08	3749637	38079563	211171058	3	2612											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76878080	76878081	+	Frame_Shift_Ins	INS	-	-	GCAAAAG													ttactgtgatggagtttttaINSagaaggaaactgggaaggac							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:76878080_76878081insGCAAAAG	ENST00000328299.3	+	3	749_750	c.601_602insGCAAAAG	c.(601-603)aagfs	p.K201fs	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	201					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGGAGTTTTTAAGAAGGAAACT	0.396													False	0	False	1:76878080	0	GCAAAAG	76878081	-	GCAAAAG	76878080	7	5	32	1	0	1	1	0	0	0	0	0	15307	363	13	0	611	0	ST6GALNAC3	1	76878080	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	38798517	76878080	172372541	4	2613											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	32	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-F2-6879-01A-11D-2154-08	75793435	152671515	96579106	5	2614											
PGLYRP3	114771	broad.mit.edu	37	chr1	153275021	153275022	+	Frame_Shift_Ins	INS	-	-	TC													acatatttggctgggaggttINScattttagggcagtgtgtct							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:153275021_153275022insTC	ENST00000290722.1	-	5	643_644	c.591_592insGA	c.(589-594)atgaacfs	p.N198fs		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	198					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGGGAGGTTCATTTTAGGGC	0.465													False	0	False	1:153275021	0	TC	153275022	-	TC	153275021	7	5	32	1	0	1	1	0	0	0	0	0	11864	1783	62	0	445	0	PGLYRP3	1	153275021	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	603506	153275021	95975600	6	2615											
DUSP27	92235	broad.mit.edu	37	chr1	167095421	167095421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaggagaaactgtaCgagcagtggaagaaggggca	19	4	0	2			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:167095421C>T	ENST00000361200.2	+	6	1219	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000271385.5_Silent_p.Y351Y|DUSP27_ENST00000485151.1_3'UTR			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	351					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.Y351Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAACTGTACGAGCAGTGGA	0.662													False	0	False	1:167095421	0	T	167095421	C	T	167095421	2	4	32	1	0	0	0	0	0	0	0	1	4854	547	19	1		1	DUSP27	1	167095421	Silent	SNP	C	TCGA-F2-6879-01A-11D-2154-08	13820400	167095421	82155200	7	2616											
LAMC2	3918	broad.mit.edu	37	chr1	183206610	183206611	+	Frame_Shift_Ins	INS	-	-	CT													gaaagaagaagcacagcagcINStcttacagaatggaaaaagt							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:183206610_183206611insCT	ENST00000264144.4	+	18	2790_2791	c.2725_2726insCT	c.(2725-2727)ctcfs	p.L909fs	LAMC2_ENST00000493293.1_Frame_Shift_Ins_p.L909fs	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	909	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGCACAGCAGCTCTTACAGAAT	0.396													False	0	False	1:183206610	0	CT	183206611	-	CT	183206610	7	5	32	1	0	1	1	0	0	0	0	0	8666	797	28	0	2795	0	LAMC2	1	183206610	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	16111189	183206610	66044011	8	2617											
B3GALT2	8707	broad.mit.edu	37	chr1	193150555	193150555	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcctggcagccagtcAtgatgattgaaaaacaaaaa	9	9	2	3			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:193150555A>C	ENST00000367434.4	-	2	893	c.138T>G	c.(136-138)caT>caG	p.H46Q	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	46					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						GCAGCCAGTCATGATGATTGA	0.428													False	0	False	1:193150555	0	C	193150555	A	C	193150555	3	2	32	1	0	0	0	0	1	0	0	0	1252	214	8	4	1134	4	B3GALT2	1	193150555	Missense_Mutation	SNP	A	TCGA-F2-6879-01A-11D-2154-08	9943945	193150555	56100066	9	2618											
SYT14	255928	broad.mit.edu	37	chr1	210187063	210187064	+	Frame_Shift_Ins	INS	-	-	GAAACCCCAAACATTAAGTTAGCTTACTACCTTA													ttctctatattaataagaagINSttctgttttgaaaatgttgg							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:210187063_210187064insGAAACCCCAAACATTAAGTTAGCTTACTACCTTA	ENST00000367015.1	+	3	339_340	c.33_34insGAAACCCCAAACATTAAGTTAGCTTACTACCTTA	c.(34-36)ttcfs	p.F12fs	SYT14_ENST00000367019.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000537238.1_Frame_Shift_Ins_p.F12fs|SYT14_ENST00000422431.1_Frame_Shift_Ins_p.F95fs|SYT14_ENST00000472886.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000534859.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000399639.2_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000271745.7_3'UTR			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	50						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTAATAAGAAGTTCTGTTTTGA	0.351													False	0	False	1:210187063	0	GAAACCCCAAACATTAAGTTAGCTTACTACCTTA	210187064	-	GAAACCCCAAACATTAAGTTAGCTTACTACCTTA	210187063	7	5	32	1	0	1	1	0	0	0	0	0	15552	1020	36	0	296	0	SYT14	1	210187063	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	17036508	210187063	39063558	10	2619											
HLX	3142	broad.mit.edu	37	chr1	221057767	221057767	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacacggagcggactgagggGagtgagcgttctctgcacca	16	10	1	2			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:221057767G>A	ENST00000366903.6	+	4	2689	c.1188G>A	c.(1186-1188)ggG>ggA	p.G396G	HLX_ENST00000549319.1_Silent_p.G182G	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	396	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GGACTGAGGGGAGTGAGCGTT	0.652													False	0	True	1:221057767	0	A	221057767	G	A	221057767	2	1	32	1	0	0	0	0	0	0	0	1	7263	1161	41	2		2	HLX	1	221057767	Silent	SNP	G	TCGA-F2-6879-01A-11D-2154-08	10870704	221057767	28192854	11	2620											
OBSCN	84033	broad.mit.edu	37	chr1	228479741	228479741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagagatggggacagataCatcctgaggcaggaggggac	16	8	1	3			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:228479741C>T	ENST00000570156.2	+	44	11843	c.11769C>T	c.(11767-11769)taC>taT	p.Y3923Y	OBSCN_ENST00000366707.4_Silent_p.Y613Y|OBSCN_ENST00000284548.11_Silent_p.Y3494Y|OBSCN_ENST00000422127.1_Silent_p.Y3494Y|OBSCN_ENST00000366709.4_Silent_p.Y613Y|OBSCN_ENST00000359599.6_Silent_p.Y2341Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2961	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGACAGATACATCCTGAGGC	0.632													False	0	False	1:228479741	0	T	228479741	C	T	228479741	2	4	32	1	0	0	0	0	0	0	0	1	10880	489	17	2		2	OBSCN	1	228479741	Silent	SNP	C	TCGA-F2-6879-01A-11D-2154-08	7421974	228479741	20770880	12	2621											
RAB4A	5867	broad.mit.edu	37	chr1	229424583	229424584	+	Frame_Shift_Ins	INS	-	-	AGCATATTTAATTTTAGAACATTAACAGGCTTATA													ggatacagcaggacaagaacINSgattcaggtagcttttctct							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:229424583_229424584insAGCATATTTAATTTTAGAACATTAACAGGCTTATA	ENST00000366690.4	+	3	428_429	c.220_221insAGCATATTTAATTTTAGAACATTAACAGGCTTATA	c.(220-222)cgafs	p.R74fs	RAB4A_ENST00000473894.1_Intron	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	69							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				AGGACAAGAACGATTCAGGTAG	0.302													False	0	False	1:229424583	0	AGCATATTTAATTTTAGAACATTAACAGGCTTATA	229424584	-	AGCATATTTAATTTTAGAACATTAACAGGCTTATA	229424583	7	5	32	1	0	1	1	0	0	0	0	0	13025	528	19	0	230	0	RAB4A	1	229424583	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	944842	229424583	19826038	13	2622											
COX7A2L	9167	broad.mit.edu	37	chr2	42580484	42580485	+	Splice_Site	INS	-	-	TTA													aaaccacaggctttaatcccINStgtagagaaaaaaaggaaaa							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:42580484_42580485insTTA	ENST00000378669.1	-	3	902		c.e3-1		COX7A2L_ENST00000463055.1_Splice_Site|COX7A2L_ENST00000482463.1_Splice_Site|COX7A2L_ENST00000234301.2_Splice_Site			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like						respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			lung(4)	4						GCTTTAATCCCTGTAGAGAAAA	0.441													False	0	True	2:42580484	0	TTA	42580485	-	TTA	42580484	8	5	32	1	0	1	1	0	0	0	1	0	3804	695	24	0	280	0	COX7A2L	2	42580484	Splice_Site	INS	-	TCGA-F2-6879-01A-11D-2154-08		42580484	200618889	14	2623											
OSBPL6	114880	broad.mit.edu	37	chr2	179193055	179193055	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccagaaaccagacaaacatGagggctttatgctgaagaaa	9	8	0	5			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:179193055G>A	ENST00000190611.4	+	5	644	c.268G>A	c.(268-270)Gag>Aag	p.E90K	OSBPL6_ENST00000357080.4_Missense_Mutation_p.E90K|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E69K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E90K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E90K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E90K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E90K	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	90	PH.				lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGACAAACATGAGGGCTTTAT	0.378													False	0	False	2:179193055	0	A	179193055	G	A	179193055	3	1	32	1	0	0	0	0	1	0	0	0	11349	1291	45	2	321	2	OSBPL6	2	179193055	Missense_Mutation	SNP	G	TCGA-F2-6879-01A-11D-2154-08	136612571	179193055	64006318	15	2624											
ZDBF2	57683	broad.mit.edu	37	chr2	207174767	207174767	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtctcagataatgagagaaGatgacataaaaattaatgct	9	4	1	5			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:207174767G>A	ENST00000374423.3	+	5	5901	c.5515G>A	c.(5515-5517)Gat>Aat	p.D1839N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1839							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATGAGAGAAGATGACATAAA	0.413													False	0	False	2:207174767	0	A	207174767	G	A	207174767	3	1	32	1	0	0	0	0	1	0	0	0	17682	942	33	2	5525	2	ZDBF2	2	207174767	Missense_Mutation	SNP	G	TCGA-F2-6879-01A-11D-2154-08	27981712	207174767	36024606	16	2625											
TTLL4	9654	broad.mit.edu	37	chr2	219604884	219604885	+	Frame_Shift_Ins	INS	-	-	TCACAGTT													ccgtgatgagaatgaagaggINSaggagggtgagtaggaaacc							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:219604884_219604885insTCACAGTT	ENST00000392102.1	+	4	1931_1932	c.1591_1592insTCACAGTT	c.(1591-1593)gagfs	p.E531fs	TTLL4_ENST00000258398.4_Frame_Shift_Ins_p.E531fs|TTLL4_ENST00000457313.1_Frame_Shift_Ins_p.E366fs|TTLL4_ENST00000442769.1_Frame_Shift_Ins_p.E531fs	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	531					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GAATGAAGAGGAGGAGGGTGAG	0.475													False	0	True	2:219604884	0	TCACAGTT	219604885	-	TCACAGTT	219604884	7	5	32	1	0	1	1	0	0	0	0	0	16813	1175	41	0	1597	0	TTLL4	2	219604884	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	12430117	219604884	23594489	17	2626											
ZNF662	389114	broad.mit.edu	37	chr3	42950359	42950359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccctggtgctcggttcctCggggagctctggatggagag	16	11	1	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:42950359C>T	ENST00000541208.1	+	3	478	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	ZNF662_ENST00000430067.2_3'UTR|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000440367.2_Missense_Mutation_p.R37W|ZNF662_ENST00000328199.6_Missense_Mutation_p.R97W|ZNF662_ENST00000422021.1_Missense_Mutation_p.R37W			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CTCGGTTCCTCGGGGAGCTCT	0.542													False	0	True	3:42950359	0	T	42950359	C	T	42950359	3	4	32	1	0	0	0	0	1	0	0	0	18154	875	31	1	302	1	ZNF662	3	42950359	Missense_Mutation	SNP	C	TCGA-F2-6879-01A-11D-2154-08		42950359	155072071	18	2627											
GTF2E1	2960	broad.mit.edu	37	chr3	120469592	120469593	+	Frame_Shift_Ins	INS	-	-	TACTG													acttcgatcagttttgaataINSatttaaagggagacaagttt							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:120469592_120469593insTACTG	ENST00000283875.5	+	2	286_287	c.193_194insTACTG	c.(193-195)aatfs	p.N65fs		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	65	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AGTTTTGAATAATTTAAAGGGA	0.431													False	0	True	3:120469592	0	TACTG	120469593	-	TACTG	120469592	7	5	32	1	0	1	1	0	0	0	0	0	6903	362	13	0	195	0	GTF2E1	3	120469592	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	77519233	120469592	77552838	19	2628											
ATP2C1	27032	broad.mit.edu	37	chr3	130672697	130672698	+	Frame_Shift_Ins	INS	-	-	TATCAAAACCATCACTCTAA													ccattgatgagtccagcttgINSacaggtgagacaacgccttg							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:130672697_130672698insTATCAAAACCATCACTCTAA	ENST00000510168.1	+	9	1114_1115	c.564_565insTATCAAAACCATCACTCTAA	c.(565-567)acafs	p.T189fs	ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.T134fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.T223fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.T184fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	189					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AGTCCAGCTTGACAGGTGAGAC	0.431									Hailey-Hailey disease				False	0	False	3:130672697	0	TATCAAAACCATCACTCTAA	130672698	-	TATCAAAACCATCACTCTAA	130672697	7	5	32	1	0	1	1	0	0	0	0	0	1147	1281	45	0	594	0	ATP2C1	3	130672697	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	10203105	130672697	67349733	20	2629											
IGSF10	285313	broad.mit.edu	37	chr3	151160955	151160955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtaagcattactactcttCgctccgaaccagtggaactg	8	11	1	0			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:151160955C>T	ENST00000282466.3	-	5	5779	c.5780G>A	c.(5779-5781)cGa>cAa	p.R1927Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1927	Ig-like C2-type 5.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACTACTCTTCGCTCCGAACC	0.433													False	0	False	3:151160955	0	T	151160955	C	T	151160955	3	4	32	1	0	0	0	0	1	0	0	0	7647	884	31	1	2147	1	IGSF10	3	151160955	Missense_Mutation	SNP	C	TCGA-F2-6879-01A-11D-2154-08	20488258	151160955	46861475	21	2630											
SAMD7	344658	broad.mit.edu	37	chr3	169644398	169644398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatggaaaaaattaatccCaagggactagcaggcctagg	11	7	0	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:169644398C>T	ENST00000428432.2	+	6	737	c.348C>T	c.(346-348)ccC>ccT	p.P116P	SAMD7_ENST00000335556.3_Silent_p.P116P	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	116										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAATTAATCCCAAGGGACTAG	0.478													False	0	True	3:169644398	0	T	169644398	C	T	169644398	2	4	32	1	0	0	0	0	0	0	0	1	13903	581	21	2		2	SAMD7	3	169644398	Silent	SNP	C	TCGA-F2-6879-01A-11D-2154-08	18483443	169644398	28378032	22	2631											
NLGN1	22871	broad.mit.edu	37	chr3	173993296	173993297	+	Frame_Shift_Ins	INS	-	-	TGAAAAATATAAATTTA													ccattattctgaaggtaaccINSgttggagcaattcaaccaaa					rs143069241		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:173993296_173993297insTGAAAAATATAAATTTA	ENST00000457714.1	+	5	1267_1268	c.838_839insTGAAAAATATAAATTTA	c.(838-840)cgtfs	p.R280fs	NLGN1_ENST00000361589.4_Frame_Shift_Ins_p.R280fs|NLGN1_ENST00000401917.3_Frame_Shift_Ins_p.R320fs|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Frame_Shift_Ins_p.R280fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	297					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGAAGGTAACCGTTGGAGCAAT	0.421													False	0	False	3:173993296	0	TGAAAAATATAAATTTA	173993297	-	TGAAAAATATAAATTTA	173993296	7	5	32	1	0	1	1	0	0	0	0	0	10529	652	23	0	848	0	NLGN1	3	173993296	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	4348898	173993296	24029134	23	2632											
CPN2	1370	broad.mit.edu	37	chr3	194062372	194062372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggttctggaagagggctgGgtgcagcgccgtaaggttgt	18	7	1	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:194062372G>A	ENST00000323830.3	-	2	1149	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S	CPN2_ENST00000429275.1_Missense_Mutation_p.P354S	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	354					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAGAGGGCTGGGTGCAGCGCC	0.562													False	0	True	3:194062372	0	A	194062372	G	A	194062372	3	1	32	1	0	0	0	0	1	0	0	0	3833	1232	43	2	581	2	CPN2	3	194062372	Missense_Mutation	SNP	G	TCGA-F2-6879-01A-11D-2154-08	20069076	194062372	3960058	24	2633											
FAT4	79633	broad.mit.edu	37	chr4	126241496	126241502	+	Frame_Shift_Del	DEL	CAATACC	CAATACC	-													gatattttagatgaaaatgaCaataccccttctttccctaa							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	CAATACC	CAATACC	-	-	CAATACC	CAATACC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr4:126241496_126241502delCAATACC	ENST00000394329.3	+	1	3943_3949	c.3930_3936delCAATACC	c.(3928-3936)gacaataccfs	p.DNT1310fs		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1310	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T1312S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGAAAATGACAATACCCCTTCTTTCC	0.391													False	1	False	4:126241496	0	-	126241502	CAATACC	-	126241496	7	5	32	1	0	1	0	1	0	0	0	0	5732	477	17	0	3932	0	FAT4	4	126241496	Frame_Shift_Del	DEL	CAATACC	TCGA-F2-6879-01A-11D-2154-08		126241496	64912780	25	2634											
CLGN	1047	broad.mit.edu	37	chr4	141320151	141320154	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													aggcttcctttgtttacaacTgtttgatcaactaacacctc					rs145227876		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	TGTT	TGTT	-	-	TGTT	TGTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr4:141320151_141320154delTGTT	ENST00000325617.5	-	8	1175_1178	c.735_738delAACA	c.(733-738)caaacafs	p.QT245fs	CLGN_ENST00000537281.1_Frame_Shift_Del_p.QT245fs|CLGN_ENST00000414773.1_Frame_Shift_Del_p.QT245fs	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	245					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TGTTTACAACTGTTTGATCAACTA	0.353													False	1	True	4:141320151	0	-	141320154	TGTT	-	141320151	7	5	32	1	0	1	0	1	0	0	0	0	3547	1567	55	0	1126	0	CLGN	4	141320151	Frame_Shift_Del	DEL	TGTT	TCGA-F2-6879-01A-11D-2154-08	15078655	141320151	49834125	26	2635											
TLL1	7092	broad.mit.edu	37	chr4	167021967	167021968	+	Frame_Shift_Ins	INS	-	-	ACATGATTGCAAGGAAGGTATGGAACGGAATACACTTTTTTTGACAACAT													gatgacacaatcaacaagaaINSgggatttcatataagataca							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr4:167021967_167021968insACATGATTGCAAGGAAGGTATGGAACGGAATACACTTTTTTTGACAACAT	ENST00000061240.2	+	21	3628_3629	c.2981_2982insACATGATTGCAAGGAAGGTATGGAACGGAATACACTTTTTTTGACAACAT	c.(2980-2985)aagggafs	p.G995fs	TLL1_ENST00000507499.1_Frame_Shift_Ins_p.G1018fs	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	995	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATCAACAAGAAGGGATTTCATA	0.337													False	0	True	4:167021967	0	ACATGATTGCAAGGAAGGTATGGAACGGAATACACTTTTTTTGACAACAT	167021968	-	ACATGATTGCAAGGAAGGTATGGAACGGAATACACTTTTTTTGACAACAT	167021967	7	5	32	1	0	1	1	0	0	0	0	0	16027	72	3	0	3063	0	TLL1	4	167021967	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	25701816	167021967	24132309	27	2636											
ADAMTS16	170690	broad.mit.edu	37	chr5	5303737	5303737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcagtggcctgtaagaGcaccaacccctcggccagag	14	14	0	2			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:5303737G>A	ENST00000274181.7	+	20	3182	c.3044G>A	c.(3043-3045)aGc>aAc	p.S1015N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1015	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCTGTAAGAGCACCAACCCC	0.627													False	0	False	5:5303737	0	A	5303737	G	A	5303737	3	1	32	1	0	0	0	0	1	0	0	0	261	971	34	2	3122	2	ADAMTS16	5	5303737	Missense_Mutation	SNP	G	TCGA-F2-6879-01A-11D-2154-08		5303737	175611523	28	2637											
ZFR	51663	broad.mit.edu	37	chr5	32364367	32364367	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgattgctttctctacTagtaactccatagcctaaaa	5	11	1	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:32364367T>C	ENST00000265069.8	-	18	2952	c.2850A>G	c.(2848-2850)ctA>ctG	p.L950L	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	950	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTTTCTCTACTAGTAACTCCA	0.343													False	0	False	5:32364367	0	C	32364367	T	C	32364367	2	2	32	1	0	0	0	0	0	0	0	1	17742	1509	53	4		4	ZFR	5	32364367	Silent	SNP	T	TCGA-F2-6879-01A-11D-2154-08	27060630	32364367	148550893	29	2638											
EGFLAM	133584	broad.mit.edu	37	chr5	38337656	38337656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttgacatcaagctgggCgcattgaactgtacggcttt	10	11	2	2			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:38337656C>T	ENST00000322350.5	+	2	478	c.132C>T	c.(130-132)ggC>ggT	p.G44G	EGFLAM_ENST00000354891.3_Silent_p.G44G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	44	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCAAGCTGGGCGCATTGAACT	0.512													False	0	True	5:38337656	0	T	38337656	C	T	38337656	2	4	32	1	0	0	0	0	0	0	0	1	4996	755	27	1		1	EGFLAM	5	38337656	Silent	SNP	C	TCGA-F2-6879-01A-11D-2154-08	5973289	38337656	142577604	30	2639											
SKIV2L2	23517	broad.mit.edu	37	chr5	54618274	54618275	+	Frame_Shift_Ins	INS	-	-	ATGTTTTA													aagcccaggatagaagagtcINSaataactgaagacttaaggt							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:54618274_54618275insATGTTTTA	ENST00000230640.5	+	2	508_509	c.254_255insATGTTTTA	c.(253-258)tcaatafs	p.I86fs	SKIV2L2_ENST00000545714.1_Intron|SKIV2L2_ENST00000504388.1_3'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	86					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATAGAAGAGTCAATAACTGAAG	0.327													False	0	False	5:54618274	0	ATGTTTTA	54618275	-	ATGTTTTA	54618274	7	5	32	1	0	1	1	0	0	0	0	0	14441	838	29	0	260	0	SKIV2L2	5	54618274	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	16280618	54618274	126296986	31	2640											
WDR41	55255	broad.mit.edu	37	chr5	76785382	76785383	+	In_Frame_Ins	INS	-	-	TTGGGAAGAGGTTTTAGGGAATTTTATGTTAAACAC													gtttgttcttcacctattgtINSctgtaaaggagatttcttgt							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:76785382_76785383insTTGGGAAGAGGTTTTAGGGAATTTTATGTTAAACAC	ENST00000296679.4	-	2	441_442	c.66_67insGTGTTTAACATAAAATTCCCTAAAACCTCTTCCCAA	c.(64-69)cagaca>cagGTGTTTAACATAAAATTCCCTAAAACCTCTTCCCAAaca	p.21_22insQVFNIKFPKTSS	WDR41_ENST00000507029.1_Intron|WDR41_ENST00000414719.2_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	21										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TCACCTATTGTCTGTAAAGGAG	0.322													False	0	False	5:76785382	0	TTGGGAAGAGGTTTTAGGGAATTTTATGTTAAACAC	76785383	-	TTGGGAAGAGGTTTTAGGGAATTTTATGTTAAACAC	76785382	7	5	32	1	0	1	1	0	0	0	0	0	17378	1667	58	0	1360	0	WDR41	5	76785382	In_Frame_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	22167108	76785382	104129878	32	2641											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	32	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-F2-6879-01A-11D-2154-08	1825062	78610444	102304816	33	2642											
SLC27A6	28965	broad.mit.edu	37	chr5	128302126	128302127	+	Frame_Shift_Ins	INS	-	-	GAAG													gcccatgtcttcctgaaccaINSttcctctctgaaaaaggggg							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:128302126_128302127insGAAG	ENST00000262462.4	+	1	1306_1307	c.296_297insGAAG	c.(295-300)cattccfs	p.HS99fs	SLC27A6_ENST00000506176.1_Frame_Shift_Ins_p.HS99fs|SLC27A6_ENST00000395266.1_Frame_Shift_Ins_p.HS99fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	99					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTCCTGAACCATTCCTCTCTGA	0.54													False	0	False	5:128302126	0	GAAG	128302127	-	GAAG	128302126	7	5	32	1	0	1	1	0	0	0	0	0	14610	217	8	0	298	0	SLC27A6	5	128302126	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	49691682	128302126	52613134	34	2643	21	2									
SLC27A6	28965	broad.mit.edu	37	chr5	128302127	128302128	+	Frame_Shift_Ins	INS	-	-	CA													cccatgtcttcctgaaccatINStcctctctgaaaaaggggga							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:128302127_128302128insCA	ENST00000262462.4	+	1	1307_1308	c.297_298insCA	c.(298-300)tccfs	p.S100fs	SLC27A6_ENST00000506176.1_Frame_Shift_Ins_p.S100fs|SLC27A6_ENST00000395266.1_Frame_Shift_Ins_p.S100fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	100					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCCTGAACCATTCCTCTCTGAA	0.545													False	0	False	5:128302127	0	CA	128302128	-	CA	128302127	7	5	32	1	0	1	1	0	0	0	0	0	14610	1490	52	0	299	0	SLC27A6	5	128302127	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	1	128302127	52613133	35	2644	21	2									
TIGD6	81789	broad.mit.edu	37	chr5	149375053	149375054	+	In_Frame_Ins	INS	-	-	AGGCAG													ggaagcatgttatgagcagaINSgcagttgtctatgagcaaga							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:149375053_149375054insAGGCAG	ENST00000296736.3	-	2	1632_1633	c.858_859insCTGCCT	c.(856-861)tgctct>tgcCTGCCTtct	p.286_287CS>CLPS	TIGD6_ENST00000515406.2_In_Frame_Ins_p.286_287CS>CLPS	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	286	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTATGAGCAGAGCAGTTGTCTA	0.505													False	0	True	5:149375053	0	AGGCAG	149375054	-	AGGCAG	149375053	7	5	32	1	0	1	1	0	0	0	0	0	15982	304	11	0	710	0	TIGD6	5	149375053	In_Frame_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	21072926	149375053	31540207	36	2645											
ARSI	340075	broad.mit.edu	37	chr5	149677192	149677192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggatccaatcgccatagCcggggtctcctgtcagcagc	13	13	2	0			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:149677192C>T	ENST00000328668.7	-	2	1874	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	432						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCGCCATAGCCGGGGTCTCC	0.657													False	0	False	5:149677192	0	T	149677192	C	T	149677192	3	4	32	1	0	0	0	0	1	0	0	0	998	739	26	2	418	2	ARSI	5	149677192	Missense_Mutation	SNP	C	TCGA-F2-6879-01A-11D-2154-08	302139	149677192	31238068	37	2646											
GABRB2	0	broad.mit.edu	37	chr5	160886786	160886787	+	Frame_Shift_Ins	INS	-	-	TT													cagagtcaagtttaaaggtaINSttacattataggacagcctc							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:160886786_160886787insTT	ENST00000393959.1	-	4	300_301	c.301_302insAA	c.(301-303)atafs	p.I101fs	GABRB2_ENST00000517901.1_Frame_Shift_Ins_p.I38fs|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Frame_Shift_Ins_p.I101fs|GABRB2_ENST00000274547.2_Frame_Shift_Ins_p.I101fs|GABRB2_ENST00000520240.1_Frame_Shift_Ins_p.I101fs			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	101					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTTTAAAGGTATTACATTATAG	0.401													False	2	False	5:160886786	0	TT	160886787	-	TT	160886786	7	5	32	1	0	1	1	0	0	0	0	0	6209	449	16	0	1264	0	GABRB2	5	160886786	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	11209594	160886786	20028474	38	2647											
FLT4	2324	broad.mit.edu	37	chr5	180039610	180039610	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagttcagcatgatgcggcGtctgcaggatcacgtgggct	15	10	3	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:180039610G>A	ENST00000261937.6	-	26	3511	c.3433C>T	c.(3433-3435)Cgc>Tgc	p.R1145C	FLT4_ENST00000502649.1_Splice_Site_p.R1145C|FLT4_ENST00000393347.3_Splice_Site_p.R1145C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1145	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATGCGGCGTCTGCAGGAT	0.667													False	0	False	5:180039610	0	A	180039610	G	A	180039610	5	1	32	1	0	0	0	0	0	0	1	0	5984	1159	40	1	686	1	FLT4	5	180039610	Splice_Site	SNP	G	TCGA-F2-6879-01A-11D-2154-08	19152824	180039610	875650	39	2648											
TCTE1	202500	broad.mit.edu	37	chr6	44254103	44254103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgcgtttccagctgccGccatggtgggccacgtggca	13	13	0	0	rs146051785		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr6:44254103G>A	ENST00000371505.4	-	3	566	c.444C>T	c.(442-444)ggC>ggT	p.G148G	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	148										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAGCTGCCGCCATGGTGGG	0.607													False	0	False	6:44254103	0	A	44254103	G	A	44254103	2	1	32	1	0	0	0	0	0	0	0	1	15799	1074	38	1		1	TCTE1	6	44254103	Silent	SNP	G	TCGA-F2-6879-01A-11D-2154-08		44254103	126860964	40	2649											
RIMS1	0	broad.mit.edu	37	chr6	73043409	73043409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacactggagcataatgacGgcagccagtcagacacagct	10	12	1	2			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr6:73043409G>A	ENST00000264839.7	+	25	3784	c.3784G>A	c.(3784-3786)Ggc>Agc	p.G1262S	RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000538414.1_Missense_Mutation_p.G219S|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1236S|RIMS1_ENST00000521978.1_Missense_Mutation_p.G1413S|RIMS1_ENST00000348717.5_Missense_Mutation_p.G1196S|RIMS1_ENST00000517960.1_Missense_Mutation_p.G1196S|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.G733S			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1413					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCATAATGACGGCAGCCAGTC	0.522													False	0	False	6:73043409	0	A	73043409	G	A	73043409	3	1	32	1	0	0	0	0	1	0	0	0	13446	1116	39	1	4514	1	RIMS1	6	73043409	Missense_Mutation	SNP	G	TCGA-F2-6879-01A-11D-2154-08	28789306	73043409	98071658	41	2650											
GPR6	0	broad.mit.edu	37	chr6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-													tggtagtggcggccgaaggaGcggcggcggcggccacagca							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.					integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712													False	1	True	6:110300376	0	-	110300435	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	110300376	7	5	32	1	0	1	0	1	0	0	0	0	6747	971	34	0	63	0	GPR6	6	110300376	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	TCGA-F2-6879-01A-11D-2154-08	37256967	110300376	60814691	42	2651											
LTV1	84946	broad.mit.edu	37	chr6	144184326	144184327	+	Frame_Shift_Ins	INS	-	-	TACTAGAGTTACTTCT													agaatacagatgattaatggINScagtgatcttcctaaagtat							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr6:144184326_144184327insTACTAGAGTTACTTCT	ENST00000367576.5	+	10	1354_1355	c.1220_1221insTACTAGAGTTACTTCT	c.(1219-1224)ggcagtfs	p.S408fs		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	408										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		ATGATTAATGGCAGTGATCTTC	0.351													False	0	False	6:144184326	0	TACTAGAGTTACTTCT	144184327	-	TACTAGAGTTACTTCT	144184326	7	5	32	1	0	1	1	0	0	0	0	0	9143	1203	42	0	1258	0	LTV1	6	144184326	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	33883950	144184326	26930741	43	2652											
MSR1	0	broad.mit.edu	37	chr8	15967630	15967630	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccagcatcttcagaatgTgaacaggctcttgtccccca	7	14	3	2			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:15967630T>C	ENST00000350896.3	-	9	1328	c.1131A>G	c.(1129-1131)tcA>tcG	p.S377S	MSR1_ENST00000355282.2_Silent_p.S377S|MSR1_ENST00000262101.5_Silent_p.S440S|MSR1_ENST00000445506.2_Silent_p.S458S	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	440	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTTCAGAATGTGAACAGGCTC	0.378													False	0	False	8:15967630	0	C	15967630	T	C	15967630	2	2	32	1	0	0	0	0	0	0	0	1	9953	1683	59	4		4	MSR1	8	15967630	Silent	SNP	T	TCGA-F2-6879-01A-11D-2154-08		15967630	130396392	44	2653											
TMEM67	91147	broad.mit.edu	37	chr8	94767364	94767364	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccagaggcaagatgcccgAggtaagacggtttgcggtgg	16	8	0	3			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:94767364A>G	ENST00000453321.3	+	1	280	c.222A>G	c.(220-222)cgA>cgG	p.R74R	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	74					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AAGATGCCCGAGGTAAGACGG	0.552													False	0	False	8:94767364	0	G	94767364	A	G	94767364	5	3	32	1	0	0	0	0	0	0	1	0	16278	318	11	4	224	4	TMEM67	8	94767364	Splice_Site	SNP	A	TCGA-F2-6879-01A-11D-2154-08	78799734	94767364	51596658	45	2654											
ZFPM2	23414	broad.mit.edu	37	chr8	106815014	106815014	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgaatccagaaagcgaaCgaaacagccctgatgtcagc	9	12	1	2			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:106815014C>T	ENST00000407775.2	+	8	2954	c.2704C>T	c.(2704-2706)Cga>Tga	p.R902*	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.R633*|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.R770*|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.R770*|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	902					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R902*(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAAGCGAACGAAACAGCCC	0.458													False	0	True	8:106815014	0	T	106815014	C	T	106815014	4	4	32	1	0	0	0	0	0	1	0	0	17741	528	19	1	2734	1	ZFPM2	8	106815014	Nonsense_Mutation	SNP	C	TCGA-F2-6879-01A-11D-2154-08	12047650	106815014	39549008	46	2655											
TRHR	7201	broad.mit.edu	37	chr8	110131289	110131289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctaggtcaccaagatgCtggcagtggttgtaattctg	11	10	2	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:110131289C>T	ENST00000518632.1	+	3	1153	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	TRHR_ENST00000311762.2_Silent_p.L268L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	268						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CACCAAGATGCTGGCAGTGGT	0.418													False	0	False	8:110131289	0	T	110131289	C	T	110131289	2	4	32	1	0	0	0	0	0	0	0	1	16563	796	28	2		2	TRHR	8	110131289	Silent	SNP	C	TCGA-F2-6879-01A-11D-2154-08	3316275	110131289	36232733	47	2656											
PKHD1L1	93035	broad.mit.edu	37	chr8	110509285	110509286	+	In_Frame_Ins	INS	-	-	CCAGAGAATGAACAC													gacatgctgggattatggaaINStttattttcaggtaattatg							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:110509285_110509286insCCAGAGAATGAACAC	ENST00000378402.5	+	64	10569_10570	c.10465_10466insCCAGAGAATGAACAC	c.(10465-10467)att>aCCAGAGAATGAACACtt	p.3489_3489I>TRE*TL		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3489					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGATTATGGAATTTATTTTCAG	0.347										HNSCC(38;0.096)			False	0	True	8:110509285	0	CCAGAGAATGAACAC	110509286	-	CCAGAGAATGAACAC	110509285	7	5	32	1	0	1	1	0	0	0	0	0	12041	101	4	0	10719	0	PKHD1L1	8	110509285	In_Frame_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	377996	110509285	35854737	48	2657											
KLHL38	340359	broad.mit.edu	37	chr8	124664206	124664206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaggccttgtacagccGtgtcgggagtttggcaaggc	17	9	0	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:124664206G>A	ENST00000325995.7	-	1	984	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	321										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TTGTACAGCCGTGTCGGGAGT	0.592													False	0	False	8:124664206	0	A	124664206	G	A	124664206	3	1	32	1	0	0	0	0	1	0	0	0	8440	1144	40	1	796	1	KLHL38	8	124664206	Missense_Mutation	SNP	G	TCGA-F2-6879-01A-11D-2154-08	14154921	124664206	21699816	49	2658											
PTK2	5747	broad.mit.edu	37	chr8	141774447	141774448	+	Frame_Shift_Ins	INS	-	-	AAAAGTTATTGATA													catctgacctcctggtatttINScatataattaaagtaggcaa							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:141774447_141774448insAAAAGTTATTGATA	ENST00000519465.1	-	1	174_175	c.3_4insTATCAATAACTTTT	c.(1-6)atgaaafs	p.K2fs	PTK2_ENST00000521059.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000520151.1_Frame_Shift_Ins_p.K2fs			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	0					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCCTGGTATTTCATATAATTAA	0.327													False	0	True	8:141774447	0	AAAAGTTATTGATA	141774448	-	AAAAGTTATTGATA	141774447	7	5	32	1	0	1	1	0	0	0	0	0	12839	1798	62	0		0	PTK2	8	141774447	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	17110241	141774447	4589575	50	2659											
CDKN2A	1029	broad.mit.edu	37	chr9	21974768	21974775	+	Frame_Shift_Del	DEL	GCGGCCGT	GCGGCCGT	-													cctctacccgaccccgggccGcggccgtggccagccagtca							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	GCGGCCGT	GCGGCCGT	-	-	GCGGCCGT	GCGGCCGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr9:21974768_21974775delGCGGCCGT	ENST00000304494.5	-	1	322_329	c.52_59delACGGCCGC	c.(52-60)acggccgcgfs	p.TAA18fs	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.TAA18fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.TAA18fs|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.TAA18fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	18					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.T18P(2)|p.A20T(2)|p.S12fs*6(1)|p.A20E(1)|p.0(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.T18M(1)|p.A20_A21del(1)|p.A20S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCCCGGGCCGCGGCCGTGGCCAGCCAG	0.745		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	1	False	9:21974768	0	-	21974775	GCGGCCGT	-	21974768	7	5	32	1	0	1	0	1	0	0	0	0	3184	1087	38	0	624	0	CDKN2A	9	21974768	Frame_Shift_Del	DEL	GCGGCCGT	TCGA-F2-6879-01A-11D-2154-08		21974768	119238663	51	2660											
COL5A1	1289	broad.mit.edu	37	chr9	137674564	137674564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatgggcatcaagggtgatCgggtgagcatctcaggtttg	15	7	2	2			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr9:137674564C>T	ENST00000371817.3	+	29	2896	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	828	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAAGGGTGATCGGGTGAGCAT	0.587													False	0	True	9:137674564	0	T	137674564	C	T	137674564	3	4	32	1	0	0	0	0	1	0	0	0	3719	875	31	1	2596	1	COL5A1	9	137674564	Missense_Mutation	SNP	C	TCGA-F2-6879-01A-11D-2154-08	115699796	137674564	3538867	52	2661											
PRTFDC1	56952	broad.mit.edu	37	chr10	25197528	25197529	+	Frame_Shift_Ins	INS	-	-	TTGAGGTTATGAA													gggtatttggagattcttgcINSaggggagcacagctactcat							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr10:25197528_25197529insTTGAGGTTATGAA	ENST00000376376.3	-	4	441_442	c.425_426insTTCATAACCTCAA	c.(424-426)ctgfs	p.-142fs	PRTFDC1_ENST00000376378.1_Intron|RN7SKP241_ENST00000464584.2_RNA|PRTFDC1_ENST00000320152.6_Intron			Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1						adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						gagattcttgcaggggagcaca	0.5													False	0	True	10:25197528	0	TTGAGGTTATGAA	25197529	-	TTGAGGTTATGAA	25197528	7	5	32	1	0	1	1	0	0	0	0	0	12713	725	25	0		0	PRTFDC1	10	25197528	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08		25197528	110337219	53	2662											
SIGIRR	59307	broad.mit.edu	37	chr11	406437	406439	+	In_Frame_Del	DEL	GTC	GTC	-													agaatcagcatggggtccttGtcgtcctgcagctgcgtctg							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	GTC	GTC	-	-	GTC	GTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:406437_406439delGTC	ENST00000431843.2	-	9	1285_1287	c.979_981delGAC	c.(979-981)gacdel	p.D327del	SIGIRR_ENST00000531205.1_In_Frame_Del_p.D327del|SIGIRR_ENST00000332725.3_In_Frame_Del_p.D327del|SIGIRR_ENST00000397632.3_In_Frame_Del_p.D327del|SIGIRR_ENST00000382520.2_In_Frame_Del_p.D327del	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	327					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGGTCCTTGTCGTCCTGCAGC	0.65													False	2	False	11:406437	0	-	406439	GTC	-	406437	7	5	32	1	0	1	0	1	0	0	0	0	14385	1368	48	0	259	0	SIGIRR	11	406437	In_Frame_Del	DEL	GTC	TCGA-F2-6879-01A-11D-2154-08		406437	134600079	54	2663											
IGF2	3481	broad.mit.edu	37	chr11	2154347	2154348	+	Frame_Shift_Ins	INS	-	-	T													cttggcgagcacgtgaccccINSggcgggcacgcaggagggca							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:2154347_2154348insT	ENST00000416167.2	-	4	1578_1579	c.412_413insA	c.(412-414)cggfs	p.R138fs	IGF2_ENST00000381406.4_Frame_Shift_Ins_p.R141fs|IGF2_ENST00000381395.1_Frame_Shift_Ins_p.R138fs|IGF2_ENST00000300632.5_Frame_Shift_Ins_p.R138fs|IGF2_ENST00000381392.1_Frame_Shift_Ins_p.R141fs|IGF2_ENST00000418738.2_Frame_Shift_Ins_p.R138fs|IGF2_ENST00000337883.6_Frame_Shift_Ins_p.R138fs|IGF2_ENST00000381389.1_Frame_Shift_Ins_p.R138fs|IGF2_ENST00000434045.2_Frame_Shift_Ins_p.R194fs			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	138					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CACGTGACCCCGGCGGGCACGC	0.678													False	0	True	11:2154347	0	T	2154348	-	T	2154347	7	5	32	1	0	1	1	0	0	0	0	0	7622	652	23	0	133	0	IGF2	11	2154347	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	1747910	2154347	132852169	55	2664	22	2									
IGF2	3481	broad.mit.edu	37	chr11	2154349	2154350	+	Frame_Shift_Ins	INS	-	-	GGCTTCT													tggcgagcacgtgaccccggINScgggcacgcaggagggcagg							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:2154349_2154350insGGCTTCT	ENST00000416167.2	-	4	1576_1577	c.410_411insAGAAGCC	c.(409-411)cgcfs	p.-137fs	IGF2_ENST00000381406.4_Frame_Shift_Ins_p.-140fs|IGF2_ENST00000381395.1_Frame_Shift_Ins_p.-137fs|IGF2_ENST00000300632.5_Frame_Shift_Ins_p.-137fs|IGF2_ENST00000381392.1_Frame_Shift_Ins_p.-140fs|IGF2_ENST00000418738.2_Frame_Shift_Ins_p.-137fs|IGF2_ENST00000337883.6_Frame_Shift_Ins_p.-137fs|IGF2_ENST00000381389.1_Frame_Shift_Ins_p.-137fs|IGF2_ENST00000434045.2_Frame_Shift_Ins_p.-193fs			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)						glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CGTGACCCCGGCGGGCACGCAG	0.668													False	0	True	11:2154349	0	GGCTTCT	2154350	-	GGCTTCT	2154349	7	5	32	1	0	1	1	0	0	0	0	0	7622	1190	42	0	135	0	IGF2	11	2154349	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	2	2154349	132852167	56	2665	22	2									
NPAS4	266743	broad.mit.edu	37	chr11	66190209	66190209	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgccagagtgcaggcaacaaActcgtgcttattcgaggccg	12	12	0	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:66190209A>T	ENST00000311034.2	+	4	671	c.495A>T	c.(493-495)aaA>aaT	p.K165N		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	165					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CAGGCAACAAACTCGTGCTTA	0.552													False	0	True	11:66190209	0	T	66190209	A	T	66190209	3	4	32	1	0	0	0	0	1	0	0	0	10633	40	2	5	509	5	NPAS4	11	66190209	Missense_Mutation	SNP	A	TCGA-F2-6879-01A-11D-2154-08	64035860	66190209	68816307	57	2666											
ATM	472	broad.mit.edu	37	chr11	108199895	108199896	+	In_Frame_Ins	INS	-	-	CAACCAATTTAAATTATATTT													atcatcggaatttgaaaacaINSagcaagctctcctgaaaaga							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:108199895_108199896insCAACCAATTTAAATTATATTT	ENST00000452508.2	+	50	7426_7427	c.7237_7238insCAACCAATTTAAATTATATTT	c.(7237-7239)aag>aCAACCAATTTAAATTATATTTag	p.2413_2413K>TTNLNYI*	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_In_Frame_Ins_p.2413_2413K>TTNLNYI*			Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2413	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.K2413Q(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATTTGAAAACAAGCAAGCTCTC	0.356			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			False	0	True	11:108199895	0	CAACCAATTTAAATTATATTT	108199896	-	CAACCAATTTAAATTATATTT	108199895	7	5	32	1	0	1	1	0	0	0	0	0	1113	131	5	0	7427	0	ATM	11	108199895	In_Frame_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	42009686	108199895	26806621	58	2667											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	32	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-F2-6879-01A-11D-2154-08		25398284	108453611	59	2668											
ZMYM2	7750	broad.mit.edu	37	chr13	20567380	20567381	+	Frame_Shift_Ins	INS	-	-	A													agaactcgtcagtggaagatINSgatgatgatgttgtttttat							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:20567380_20567381insA	ENST00000382881.3	+	3	412_413	c.168_169insA	c.(169-171)gatfs	p.D57fs	ZMYM2_ENST00000382871.2_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382874.2_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382869.3_Frame_Shift_Ins_p.D57fs			Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAGTGGAAGATGATGATGATGT	0.396													False	0	True	13:20567380	0	A	20567381	-	A	20567380	7	5	32	1	0	1	1	0	0	0	0	0	17783	1461	51	0	170	0	ZMYM2	13	20567380	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08		20567380	94602498	60	2669	23	2									
ZMYM2	7750	broad.mit.edu	37	chr13	20567381	20567382	+	Frame_Shift_Ins	INS	-	-	AAAAAAGAATTAAA													gaactcgtcagtggaagatgINSatgatgatgttgtttttatc							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:20567381_20567382insAAAAAAGAATTAAA	ENST00000382881.3	+	3	413_414	c.169_170insAAAAAAGAATTAAA	c.(169-171)gatfs	p.D57fs	ZMYM2_ENST00000382871.2_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382874.2_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382869.3_Frame_Shift_Ins_p.D57fs			Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGTGGAAGATGATGATGATGTT	0.391													False	0	True	13:20567381	0	AAAAAAGAATTAAA	20567382	-	AAAAAAGAATTAAA	20567381	7	5	32	1	0	1	1	0	0	0	0	0	17783	1290	45	0	171	0	ZMYM2	13	20567381	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	1	20567381	94602497	61	2670	23	2									
MIPEP	4285	broad.mit.edu	37	chr13	24444305	24444306	+	Frame_Shift_Ins	INS	-	-	CAGTGATAATATAATAGTATCC													tactactcaaatccaagattINSttaacattgaggtccactgc							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:24444305_24444306insCAGTGATAATATAATAGTATCC	ENST00000382172.3	-	6	730_731	c.632_633insGGATACTATTATATTATCACTG	c.(631-633)aaafs	p.-211fs		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase						protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AATCCAAGATTTTAACATTGAG	0.332													False	0	True	13:24444305	0	CAGTGATAATATAATAGTATCC	24444306	-	CAGTGATAATATAATAGTATCC	24444305	7	5	32	1	0	1	1	0	0	0	0	0	9659	1838	64	0	1564	0	MIPEP	13	24444305	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	3876924	24444305	90725573	62	2671											
HTR2A	3356	broad.mit.edu	37	chr13	47466615	47466615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggattctggatggcgaCgtagcggtccagcgagatgg	18	7	1	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:47466615C>T	ENST00000378688.4	-	2	654	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	HTR2A_ENST00000542664.1_Missense_Mutation_p.V175I|HTR2A_ENST00000543956.1_Missense_Mutation_p.V91I			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	175					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGGATGGCGACGTAGCGGTCC	0.537													False	0	False	13:47466615	0	T	47466615	C	T	47466615	3	4	32	1	0	0	0	0	1	0	0	0	7491	536	19	1	900	1	HTR2A	13	47466615	Missense_Mutation	SNP	C	TCGA-F2-6879-01A-11D-2154-08	23022310	47466615	67703263	63	2672											
NEK5	341676	broad.mit.edu	37	chr13	52667356	52667357	+	Frame_Shift_Ins	INS	-	-	AGCTTAAGCTTTGG													acagcagcaattttgggtctINSttctatcatttttatctgaa							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:52667356_52667357insAGCTTAAGCTTTGG	ENST00000355568.4	-	13	1180_1181	c.1041_1042insCCAAAGCTTAAGCT	c.(1039-1044)gaaagafs	p.R348fs		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	348							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ATTTTGGGTCTTTCTATCATTT	0.411													False	0	True	13:52667356	0	AGCTTAAGCTTTGG	52667357	-	AGCTTAAGCTTTGG	52667356	7	5	32	1	0	1	1	0	0	0	0	0	10395	1617	56	0	1124	0	NEK5	13	52667356	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	5200741	52667356	62502522	64	2673											
NRXN3	9369	broad.mit.edu	37	chr14	79746678	79746678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggagccctcctcgccggcCggcctggacgcttgggatct	14	16	1	0			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr14:79746678C>T	ENST00000281127.7	+	1	923	c.44C>T	c.(43-45)cCg>cTg	p.P15L	NRXN3_ENST00000557594.1_Missense_Mutation_p.P15L|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.P15L|NRXN3_ENST00000554719.1_Intron	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	15					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCTCGCCGGCCGGCCTGGACG	0.572													False	0	True	14:79746678	0	T	79746678	C	T	79746678	3	4	32	1	0	0	0	0	1	0	0	0	10735	652	23	1	2229	1	NRXN3	14	79746678	Missense_Mutation	SNP	C	TCGA-F2-6879-01A-11D-2154-08		79746678	27602862	65	2674											
ACTC1	70	broad.mit.edu	37	chr15	35084689	35084689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaccagccagatccagaCgcatgatggcatggggcaaa	12	13	0	3			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr15:35084689C>T	ENST00000290378.4	-	4	1191	c.536G>A	c.(535-537)cGt>cAt	p.R179H	ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	179					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CAGATCCAGACGCATGATGGC	0.547													False	0	False	15:35084689	0	T	35084689	C	T	35084689	3	4	32	1	0	0	0	0	1	0	0	0	195	536	19	1	613	1	ACTC1	15	35084689	Missense_Mutation	SNP	C	TCGA-F2-6879-01A-11D-2154-08		35084689	67446703	66	2675											
CCDC33	80125	broad.mit.edu	37	chr15	74536401	74536403	+	In_Frame_Del	DEL	AAG	AAG	-													tcggtcacctgtctccctctAagaaggagaccatcatggtc					rs74360605		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr15:74536401_74536403delAAG	ENST00000398814.3	+	2	528_530	c.97_99delAAG	c.(97-99)aagdel	p.K34del	CCDC33_ENST00000321288.5_In_Frame_Del_p.K237del	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	237							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCTCCCTCTAAGAAGGAGACCA	0.606													False	2	False	15:74536401	0	-	74536403	AAG	-	74536401	7	5	32	1	0	1	0	1	0	0	0	0	2827	363	13	0	103	0	CCDC33	15	74536401	In_Frame_Del	DEL	AAG	TCGA-F2-6879-01A-11D-2154-08	39451712	74536401	27994991	67	2676											
NKD1	85407	broad.mit.edu	37	chr16	50666302	50666302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgggatagaaaactacaCgtcccaatttgggcctggta	11	11	0	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr16:50666302C>T	ENST00000268459.3	+	9	1030	c.806C>T	c.(805-807)aCg>aTg	p.T269M		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	269					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GAAAACTACACGTCCCAATTT	0.597													False	0	False	16:50666302	0	T	50666302	C	T	50666302	3	4	32	1	0	0	0	0	1	0	0	0	10509	536	19	1	840	1	NKD1	16	50666302	Missense_Mutation	SNP	C	TCGA-F2-6879-01A-11D-2154-08		50666302	39688451	68	2677											
C17orf97	400566	broad.mit.edu	37	chr17	263345	263345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcaagggcttccacccCgaccccgaggccctcaaggg	11	19	2	0			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:263345C>T	ENST00000360127.6	+	2	727	c.711C>T	c.(709-711)ccC>ccT	p.P237P	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	267	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GCTTCCACCCCGACCCCGAGG	0.726													False	0	True	17:263345	0	T	263345	C	T	263345	2	4	32	1	0	0	0	0	0	0	0	1	1906	639	23	1		1	C17orf97	17	263345	Silent	SNP	C	TCGA-F2-6879-01A-11D-2154-08		263345	80931865	69	2678											
MYBBP1A	10514	broad.mit.edu	37	chr17	4458561	4458561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagcggtcggcaggccggGcgccactctgcgtcgcttct	14	15	2	0			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:4458561G>A	ENST00000254718.4	-	1	365	c.59C>T	c.(58-60)gCc>gTc	p.A20V	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A20V			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	20	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGCAGGCCGGGCGCCACTCTG	0.637													False	0	True	17:4458561	0	A	4458561	G	A	4458561	3	1	32	1	0	0	0	0	1	0	0	0	10075	1203	42	2	4071	2	MYBBP1A	17	4458561	Missense_Mutation	SNP	G	TCGA-F2-6879-01A-11D-2154-08	4195216	4458561	76736649	70	2679											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	9	15	2	1	rs121912666		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557		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)			False	0	False	17:7578190	0	C	7578190	T	C	7578190	3	2	32	1	0	0	0	0	1	0	0	0	16464	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-F2-6879-01A-11D-2154-08	3119629	7578190	73617020	71	2680											
FBXW10	10517	broad.mit.edu	37	chr17	18668178	18668178	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagattgccaggtaaaaggTgagaaagaagtgccttaaat	12	4	0	3			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:18668178T>C	ENST00000308799.4	+	7	1861		c.e7+2		FBXW10_ENST00000301938.4_Splice_Site|FBXW10_ENST00000395667.1_Splice_Site|FBXW10_ENST00000395665.4_Splice_Site			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10											NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AGGTAAAAGGTGAGAAAGAAG	0.443													False	0	False	17:18668178	0	C	18668178	T	C	18668178	5	2	32	1	0	0	0	0	0	0	1	0	5803	1710	59	4	1587	4	FBXW10	17	18668178	Splice_Site	SNP	T	TCGA-F2-6879-01A-11D-2154-08	11089988	18668178	62527032	72	2681											
SUZ12	23512	broad.mit.edu	37	chr17	30322748	30322749	+	Frame_Shift_Ins	INS	-	-	AAATAAAT													tagatagtgaagatgaaaagINSgatcctgaatggctaagaga							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:30322748_30322749insAAATAAAT	ENST00000322652.5	+	14	1990_1991	c.1761_1762insAAATAAAT	c.(1762-1764)gatfs	p.D588fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.D565fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	588	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AAGATGAAAAGGATCCTGAATG	0.327			T	JAZF1	endometrial stromal tumours								False	0	False	17:30322748	0	AAATAAAT	30322749	-	AAATAAAT	30322748	7	5	32	1	0	1	1	0	0	0	0	0	15498	991	35	0	1815	0	SUZ12	17	30322748	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	11654570	30322748	50872462	73	2682	24	2									
SUZ12	23512	broad.mit.edu	37	chr17	30322749	30322750	+	Frame_Shift_Ins	INS	-	-	TTGATTT													agatagtgaagatgaaaaggINSatcctgaatggctaagagaa							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:30322749_30322750insTTGATTT	ENST00000322652.5	+	14	1991_1992	c.1762_1763insTTGATTT	c.(1762-1764)gatfs	p.D588fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.D565fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	588	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AGATGAAAAGGATCCTGAATGG	0.327			T	JAZF1	endometrial stromal tumours								False	0	False	17:30322749	0	TTGATTT	30322750	-	TTGATTT	30322749	7	5	32	1	0	1	1	0	0	0	0	0	15498	1174	41	0	1816	0	SUZ12	17	30322749	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	1	30322749	50872461	74	2683	24	2									
SLFN5	162394	broad.mit.edu	37	chr17	33585831	33585832	+	Frame_Shift_Ins	INS	-	-	TAGAACCATT													ctgcgggagaaacagaatgaINSaatcatcctgcgagcagtat							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:33585831_33585832insTAGAACCATT	ENST00000542451.1	+	2	235_236	c.122_123insTAGAACCATT	c.(121-126)gaaatcfs	p.EI41fs	SLFN5_ENST00000299977.4_Frame_Shift_Ins_p.EI41fs|SLFN5_ENST00000592325.1_Frame_Shift_Ins_p.EI41fs			Q08AF3	SLFN5_HUMAN	schlafen family member 5	41					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AAACAGAATGAAATCATCCTGC	0.485													False	0	True	17:33585831	0	TAGAACCATT	33585832	-	TAGAACCATT	33585831	7	5	32	1	0	1	1	0	0	0	0	0	14817	246	9	0	124	0	SLFN5	17	33585831	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	3263082	33585831	47609379	75	2684											
PLCD3	113026	broad.mit.edu	37	chr17	43192471	43192471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagctcctacctgcctcccGaatgagtttcttggctttgc	8	15	1	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:43192471G>A	ENST00000322765.5	-	11	1812	c.1699C>T	c.(1699-1701)Cgg>Tgg	p.R567W	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	568	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	CCTGCCTCCCGAATGAGTTTC	0.657													False	0	True	17:43192471	0	A	43192471	G	A	43192471	3	1	32	1	0	0	0	0	1	0	0	0	12101	1049	37	1	691	1	PLCD3	17	43192471	Missense_Mutation	SNP	G	TCGA-F2-6879-01A-11D-2154-08	9606640	43192471	38002739	76	2685											
MYCBPAP	84073	broad.mit.edu	37	chr17	48608775	48608775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatgtcgaggaggctttgCgcctctgcaggtgactctcg	14	10	2	2			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:48608775C>T	ENST00000323776.5	+	19	3103	c.2941C>T	c.(2941-2943)Cgc>Tgc	p.R981C	MYCBPAP_ENST00000436259.2_3'UTR	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	944					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GGAGGCTTTGCGCCTCTGCAG	0.522													False	0	False	17:48608775	0	T	48608775	C	T	48608775	3	4	32	1	0	0	0	0	1	0	0	0	10086	768	27	1	3015	1	MYCBPAP	17	48608775	Missense_Mutation	SNP	C	TCGA-F2-6879-01A-11D-2154-08	5416304	48608775	32586435	77	2686											
INTS2	57508	broad.mit.edu	37	chr17	59969024	59969025	+	Frame_Shift_Ins	INS	-	-	CTTTTATATCTATTAACTTA													gatgaagtggagtagaggttINStcacacagctgtctataaat							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:59969024_59969025insCTTTTATATCTATTAACTTA	ENST00000251334.6	-	14	2079_2080	c.1724_1725insTAAGTTAATAGATATAAAAG	c.(1723-1725)gaafs	p.E575fs	INTS2_ENST00000444766.3_Frame_Shift_Ins_p.E583fs			Q9H0H0	INT2_HUMAN	integrator complex subunit 2	583					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GAGTAGAGGTTTCACACAGCTG	0.337													False	0	True	17:59969024	0	CTTTTATATCTATTAACTTA	59969025	-	CTTTTATATCTATTAACTTA	59969024	7	5	32	1	0	1	1	0	0	0	0	0	7828	1838	64	0	1913	0	INTS2	17	59969024	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08	11360249	59969024	21226186	78	2687											
NUP85	79902	broad.mit.edu	37	chr17	73229049	73229049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatgccgcctttgccacGctcgtgtcagacaggtgggt	14	11	1	1	rs150650595		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:73229049G>A	ENST00000447371.2	+	14	1420	c.996G>A	c.(994-996)acG>acA	p.T332T	NUP85_ENST00000579298.1_Silent_p.T455T|NUP85_ENST00000540768.1_Silent_p.T103T|NUP85_ENST00000579324.1_Silent_p.T388T|NUP85_ENST00000245544.4_Silent_p.T500T|NUP85_ENST00000541827.1_Silent_p.T454T			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	500					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CCTTTGCCACGCTCGTGTCAG	0.602													False	0	False	17:73229049	0	A	73229049	G	A	73229049	2	1	32	1	0	0	0	0	0	0	0	1	10838	1074	38	1		1	NUP85	17	73229049	Silent	SNP	G	TCGA-F2-6879-01A-11D-2154-08	13260025	73229049	7966161	79	2688											
LAMA1	284217	broad.mit.edu	37	chr18	6943188	6943188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtacataccaggatagcCaccaacataaatgggattgt	8	11	0	0			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr18:6943188C>T	ENST00000389658.3	-	62	9151	c.9058G>A	c.(9058-9060)Ggc>Agc	p.G3020S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	3020	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGATAGCCACCAACATAA	0.502													False	0	False	18:6943188	0	T	6943188	C	T	6943188	3	4	32	1	0	0	0	0	1	0	0	0	8656	594	21	2	177	2	LAMA1	18	6943188	Missense_Mutation	SNP	C	TCGA-F2-6879-01A-11D-2154-08		6943188	71134060	80	2689											
CDH7	1005	broad.mit.edu	37	chr18	63526217	63526217	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcactatacttgacatcaatGataacgcccctgaatttgcc	5	12	2	3			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr18:63526217G>A	ENST00000536984.2	+	9	2123	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	CDH7_ENST00000323011.3_Missense_Mutation_p.D477N|CDH7_ENST00000397968.2_Missense_Mutation_p.D477N			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	477	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGACATCAATGATAACGCCCC	0.428													False	0	False	18:63526217	0	A	63526217	G	A	63526217	3	1	32	1	0	0	0	0	1	0	0	0	3138	1290	45	2	1459	2	CDH7	18	63526217	Missense_Mutation	SNP	G	TCGA-F2-6879-01A-11D-2154-08	56583029	63526217	14551031	81	2690											
ZNF627	199692	broad.mit.edu	37	chr19	11727808	11727809	+	Frame_Shift_Ins	INS	-	-	TTTTCTT													tgaaaggactcatcctggagINSgaaagccctatgattgtaag							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr19:11727808_11727809insTTTTCTT	ENST00000361113.5	+	4	698_699	c.490_491insTTTTCTT	c.(490-492)ggafs	p.G164fs	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TCATCCTGGAGGAAAGCCCTAT	0.416													False	0	True	19:11727808	0	TTTTCTT	11727809	-	TTTTCTT	11727808	7	5	32	1	0	1	1	0	0	0	0	0	18134	1001	35	0	504	0	ZNF627	19	11727808	Frame_Shift_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08		11727808	47401175	82	2691											
GRIN2D	2906	broad.mit.edu	37	chr19	48918276	48918276	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatcgatggcgtctggaacgGcatgatcggggaggtgaggg	20	6	1	2			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr19:48918276G>C	ENST00000263269.3	+	6	1656	c.1568G>C	c.(1567-1569)gGc>gCc	p.G523A		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	523						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GTCTGGAACGGCATGATCGGG	0.637													False	0	False	19:48918276	0	C	48918276	G	C	48918276	3	2	32	1	0	0	0	0	1	0	0	0	6829	1203	42	5	1586	5	GRIN2D	19	48918276	Missense_Mutation	SNP	G	TCGA-F2-6879-01A-11D-2154-08	37190468	48918276	10210707	83	2692											
ZIM2	23619	broad.mit.edu	37	chr19	57286068	57286068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtttctcaacagtgatcGcactcaacagttttctcttg	7	10	3	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr19:57286068G>A	ENST00000391708.3	-	12	2114	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	ZIM2_ENST00000593711.1_Silent_p.C524C|ZIM2_ENST00000599935.1_Silent_p.C524C|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Silent_p.C524C|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Silent_p.C524C|AC006115.3_ENST00000595954.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2									p.C524C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AACAGTGATCGCACTCAACAG	0.458													False	0	False	19:57286068	0	A	57286068	G	A	57286068	2	1	32	1	0	0	0	0	0	0	0	1	17767	1079	38	1		1	ZIM2	19	57286068	Silent	SNP	G	TCGA-F2-6879-01A-11D-2154-08	8367792	57286068	1842915	84	2693											
MYT1	4661	broad.mit.edu	37	chr20	62838994	62838994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccaaccccatcggcagcGccactgcctcctccaagggc	9	19	0	0			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr20:62838994G>A	ENST00000536311.1	+	7	809	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	MYT1_ENST00000328439.1_Missense_Mutation_p.A149T|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	149					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CATCGGCAGCGCCACTGCCTC	0.552													False	0	False	20:62838994	0	A	62838994	G	A	62838994	3	1	32	1	0	0	0	0	1	0	0	0	10173	1087	38	1	463	1	MYT1	20	62838994	Missense_Mutation	SNP	G	TCGA-F2-6879-01A-11D-2154-08		62838994	186526	85	2694											
KCNE1	3753	broad.mit.edu	37	chr21	35821678	35821679	+	In_Frame_Ins	INS	-	-	ACCTGATTT													tgtccttctcttgccaggcaINStcggactcgatgtagacgtt							TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr21:35821678_35821679insACCTGATTT	ENST00000337385.3	-	3	629_630	c.254_255insAAATCAGGT	c.(253-255)gat>gaAAATCAGGTt	p.85_85D>ENQV	KCNE1_ENST00000399286.2_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000399284.1_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000416357.2_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000432085.1_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000399289.3_In_Frame_Ins_p.85_85D>ENQV	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	85			D -> N (predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential between the mutant and the wildt-ype channels; dbSNP:rs1805128).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CTTGCCAGGCATCGGACTCGAT	0.55													False	0	False	21:35821678	0	ACCTGATTT	35821679	-	ACCTGATTT	35821678	7	5	32	1	0	1	1	0	0	0	0	0	8071	214	8	0	138	0	KCNE1	21	35821678	In_Frame_Ins	INS	-	TCGA-F2-6879-01A-11D-2154-08		35821678	12308217	86	2695											
TRPM2	7226	broad.mit.edu	37	chr21	45838383	45838383	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaactacctccagaacCgacagttccagcaaaagcag	9	12	0	2	rs143493112	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr21:45838383C>T	ENST00000397928.1	+	22	3851	c.3406C>T	c.(3406-3408)Cga>Tga	p.R1136*	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.R1136*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.R1116*|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.R1136*	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1136						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCTCCAGAACCGACAGTTCCA	0.607													False	0	False	21:45838383	0	T	45838383	C	T	45838383	4	4	32	1	0	0	0	0	0	1	0	0	16669	644	23	1	3492	1	TRPM2	21	45838383	Nonsense_Mutation	SNP	C	TCGA-F2-6879-01A-11D-2154-08	10016705	45838383	2291512	87	2696											
COL18A1	80781	broad.mit.edu	37	chr21	46925862	46925862	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctacgtccgcgtgcagaaCgggttccggaaggtccaggt	14	12	1	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr21:46925862C>A	ENST00000359759.4	+	36	4464	c.4443C>A	c.(4441-4443)aaC>aaA	p.N1481K	COL18A1_ENST00000400337.2_Missense_Mutation_p.N1066K|COL18A1_ENST00000355480.5_Missense_Mutation_p.N1246K|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1481	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCGTGCAGAACGGGTTCCGGA	0.667													False	0	True	21:46925862	0	A	46925862	C	A	46925862	3	1	32	1	0	0	0	0	1	0	0	0	3698	535	19	3	4694	3	COL18A1	21	46925862	Missense_Mutation	SNP	C	TCGA-F2-6879-01A-11D-2154-08	1087479	46925862	1204033	88	2697											
CXorf21	80231	broad.mit.edu	37	chrX	30577625	30577625	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taggagtgctaatttcagtaAtttcagttgacatcaattgc	8	6	3	1			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chrX:30577625A>C	ENST00000378962.3	-	3	1170	c.848T>G	c.(847-849)aTt>aGt	p.I283S		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	283										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AATTTCAGTAATTTCAGTTGA	0.383													False	0	True	X:30577625	0	C	30577625	A	C	30577625	3	2	32	1	0	0	0	0	1	0	0	0	4126	101	4	4	61	4	CXorf21	23	30577625	Missense_Mutation	SNP	A	TCGA-F2-6879-01A-11D-2154-08		30577625	124692935	89	2698											
AFF2	2334	broad.mit.edu	37	chrX	148037698	148037698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagattgtgccaaagtctcGggaattcattgaaacagatt	9	7	2	3			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chrX:148037698G>A	ENST00000370460.2	+	11	2602	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	AFF2_ENST00000342251.3_Missense_Mutation_p.R675Q|AFF2_ENST00000286437.5_Missense_Mutation_p.R349Q|AFF2_ENST00000370457.5_Missense_Mutation_p.R675Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	708					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAGTCTCGGGAATTCATT	0.488													False	0	True	X:148037698	0	A	148037698	G	A	148037698	3	1	32	1	0	0	0	0	1	0	0	0	357	1116	39	1	2220	1	AFF2	23	148037698	Missense_Mutation	SNP	G	TCGA-F2-6879-01A-11D-2154-08	117460073	148037698	7232862	90	2699											
CSMD2	114784	broad.mit.edu	37	chr1	34158555	34158555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgcagccggcctctgcttCgatggtccagatgcagttga	14	11	1	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:34158555C>T	ENST00000373381.4	-	25	4203	c.4027G>A	c.(4027-4029)Gaa>Aaa	p.E1343K	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.E216K	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1303	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTCTGCTTCGATGGTCCAG	0.562													False	0	False	1:34158555	0	T	34158555	C	T	34158555	3	4	33	1	0	0	0	0	1	0	0	0	3970	893	31	1	6736	1	CSMD2	1	34158555	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		34158555	215092066	1	2700											
DPYD	1806	broad.mit.edu	37	chr1	98157326	98157326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaattcactacatcatacgGcagccggaactgaggaattt	8	9	2	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:98157326G>A	ENST00000370192.3	-	7	809	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	237					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACATCATACGGCAGCCGGAAC	0.363													False	0	False	1:98157326	0	A	98157326	G	A	98157326	3	1	33	1	0	0	0	0	1	0	0	0	4775	1203	42	2	2436	2	DPYD	1	98157326	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	63998771	98157326	151093295	2	2701											
GPSM2	29899	broad.mit.edu	37	chr1	109465166	109465168	+	In_Frame_Del	DEL	CTT	CTT	-													ccatacagcttcaacaacaaCttcttccactccccctaaaa					rs79761186		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:109465166_109465168delCTT	ENST00000406462.1	+	14	2341_2343	c.1568_1570delCTT	c.(1567-1572)acttct>act	p.S525del	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_In_Frame_Del_p.S525del			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	525					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCAACAACAACTTCTTCCACTCC	0.374													False	2	True	1:109465166	0	-	109465168	CTT	-	109465166	7	5	33	1	0	1	0	1	0	0	0	0	6782	565	20	0	1614	0	GPSM2	1	109465166	In_Frame_Del	DEL	CTT	TCGA-F2-A44G-01A-11D-A26I-08	11307840	109465166	139785455	3	2702											
SETDB1	9869	broad.mit.edu	37	chr1	150921869	150921869	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggaaagccagcttgcccagtCacggaagcaggtagccaaaa	12	11	1	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:150921869C>G	ENST00000271640.5	+	12	1638	c.1448C>G	c.(1447-1449)tCa>tGa	p.S483*	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Nonsense_Mutation_p.S483*	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTGCCCAGTCACGGAAGCAG	0.453													False	0	False	1:150921869	0	G	150921869	C	G	150921869	4	3	33	1	0	0	0	0	0	1	0	0	14219	838	29	5	1490	5	SETDB1	1	150921869	Nonsense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	41456703	150921869	98328752	4	2703											
LMX1A	4009	broad.mit.edu	37	chr1	165177322	165177322	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagctcagcctctgggtgttCtgctgatcttgctgctgctg	13	11	4	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:165177322C>T	ENST00000342310.3	-	7	1177	c.795G>A	c.(793-795)caG>caA	p.Q265Q	LMX1A_ENST00000367893.4_Silent_p.Q265Q|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Silent_p.Q265Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	265	Gln-rich.|Poly-Gln.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCTGGGTGTTCTGCTGATCTT	0.572													False	0	False	1:165177322	0	T	165177322	C	T	165177322	2	4	33	1	0	0	0	0	0	0	0	1	8914	912	32	2		2	LMX1A	1	165177322	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	14255453	165177322	84073299	5	2704											
MALL	7851	broad.mit.edu	37	chr2	110849265	110849265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgagaaacgaggtgagcGagacatacatcacccatcct	10	10	1	4			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:110849265G>A	ENST00000272462.2	-	2	961	c.188C>T	c.(187-189)tCg>tTg	p.S63L	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	63	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		CGAGGTGAGCGAGACATACAT	0.448													False	0	False	2:110849265	0	A	110849265	G	A	110849265	3	1	33	1	0	0	0	0	1	0	0	0	9268	1059	37	1	285	1	MALL	2	110849265	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		110849265	132350108	6	2705											
CYP27A1	1593	broad.mit.edu	37	chr2	219678840	219678840	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggtgtggtgccagccGggcaagtgccccagcacaag	17	11	0	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:219678840G>C	ENST00000258415.4	+	6	1541	c.1114G>C	c.(1114-1116)Ggg>Cgg	p.G372R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	372					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GGTGCCAGCCGGGCAAGTGCC	0.587													False	0	True	2:219678840	0	C	219678840	G	C	219678840	3	2	33	1	0	0	0	0	1	0	0	0	4183	1116	39	5	1136	5	CYP27A1	2	219678840	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	108829575	219678840	23520533	7	2706											
MYLK	4638	broad.mit.edu	37	chr3	123411658	123411658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttgtataagcctctgtcCtcaggcagtgccttctcgat	8	13	3	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:123411658C>T	ENST00000360772.3	-	20	3867	c.3489G>A	c.(3487-3489)gaG>gaA	p.E1163E	MYLK_ENST00000475616.1_Silent_p.E1163E|MYLK_ENST00000359169.1_Silent_p.E1163E|MYLK_ENST00000360304.3_Silent_p.E1163E|MYLK_ENST00000346322.5_Silent_p.E1094E|MYLK_ENST00000510775.1_5'UTR			Q15746	MYLK_HUMAN	myosin light chain kinase	1163	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCCTCTGTCCTCAGGCAGTG	0.592													False	0	False	3:123411658	0	T	123411658	C	T	123411658	2	4	33	1	0	0	0	0	0	0	0	1	10123	680	24	2		2	MYLK	3	123411658	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		123411658	74610772	8	2707											
EPHA5	2044	broad.mit.edu	37	chr4	66535410	66535410	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgggggtgtcgccgccGccgcttgggggccgccggcg	21	13	0	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:66535410G>A	ENST00000273854.3	-	1	651	c.51C>T	c.(49-51)ggC>ggT	p.G17G	EPHA5_ENST00000354839.4_Silent_p.G17G|EPHA5_ENST00000511294.1_Silent_p.G17G|EPHA5_ENST00000432638.2_Silent_p.G17G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	17					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGTCGCCGCCGCCGCTTgggg	0.756										TSP Lung(17;0.13)			False	0	True	4:66535410	0	A	66535410	G	A	66535410	2	1	33	1	0	0	0	0	0	0	0	1	5202	1074	38	1		1	EPHA5	4	66535410	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		66535410	124618866	9	2708											
HELQ	113510	broad.mit.edu	37	chr4	84342813	84342813	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatttttcagatacagtcCaaatgttggtctctttgagc	7	7	2	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:84342813C>T	ENST00000295488.3	-	15	3014	c.2852G>A	c.(2851-2853)tGg>tAg	p.W951*	HELQ_ENST00000510985.1_Nonsense_Mutation_p.W884*	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	951							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGATACAGTCCAAATGTTGGT	0.358								Other identified genes with known or suspected DNA repair function					False	0	True	4:84342813	0	T	84342813	C	T	84342813	4	4	33	1	0	0	0	0	0	1	0	0	7094	595	21	2	469	2	HELQ	4	84342813	Nonsense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	17807403	84342813	106811463	10	2709											
METTL14	57721	broad.mit.edu	37	chr4	119609076	119609076	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgattttgtcttttctcAgttgggagctgaaagtgccg	11	7	3	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:119609076A>G	ENST00000388822.5	+	2	233		c.e2-1		METTL14_ENST00000506780.1_Splice_Site			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GTCTTTTCTCAGTTGGGAGCT	0.383													False	0	False	4:119609076	0	G	119609076	A	G	119609076	5	3	33	1	0	0	0	0	0	0	1	0	9565	202	7	4	71	4	METTL14	4	119609076	Splice_Site	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08	35266263	119609076	71545200	11	2710											
METTL14	57721	broad.mit.edu	37	chr4	119626803	119626803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaaggaactgtgaagcGtagcacagacggggacttca	13	8	2	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:119626803G>A	ENST00000388822.5	+	10	1060	c.893G>A	c.(892-894)cGt>cAt	p.R298H	METTL14_ENST00000506780.1_Missense_Mutation_p.R260H			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	p.R298P(3)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						ACTGTGAAGCGTAGCACAGAC	0.373													False	0	False	4:119626803	0	A	119626803	G	A	119626803	3	1	33	1	0	0	0	0	1	0	0	0	9565	1145	40	1	931	1	METTL14	4	119626803	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	17727	119626803	71527473	12	2711											
DDX60L	91351	broad.mit.edu	37	chr4	169374381	169374381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagccacacagaggcaaCgcagtctgcagaaatcttcc	9	12	2	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:169374381C>T	ENST00000511577.1	-	8	1137	c.890G>A	c.(889-891)cGt>cAt	p.R297H	DDX60L_ENST00000260184.7_Missense_Mutation_p.R297H|DDX60L_ENST00000505890.1_Missense_Mutation_p.R297H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	297							ATP binding|ATP-dependent helicase activity|RNA binding	p.R297L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACAGAGGCAACGCAGTCTGCA	0.458													False	0	False	4:169374381	0	T	169374381	C	T	169374381	3	4	33	1	0	0	0	0	1	0	0	0	4404	536	19	1	4354	1	DDX60L	4	169374381	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	49747578	169374381	21779895	13	2712											
ANKH	56172	broad.mit.edu	37	chr5	14756009	14756009	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attgaggcacatcccaccagGaaactgtatttgtgttttaa	8	8	0	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:14756009G>A	ENST00000284268.6	-	4	807	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	159					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATCCCACCAGGAAACTGTATT	0.453													False	0	True	5:14756009	0	A	14756009	G	A	14756009	2	1	33	1	0	0	0	0	0	0	0	1	627	1165	41	2		2	ANKH	5	14756009	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		14756009	166159251	14	2713											
RAD17	5884	broad.mit.edu	37	chr5	68692363	68692363	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaacctcagtggtttctaaTaaataaaaaggtaaaaaaaa	5	5	2	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:68692363T>A	ENST00000509734.1	+	15	2273	c.1595T>A	c.(1594-1596)aTa>aAa	p.I532K	RAD17_ENST00000358030.2_Missense_Mutation_p.I356K|RAD17_ENST00000521422.1_Missense_Mutation_p.I356K|RAD17_ENST00000354312.3_Missense_Mutation_p.I521K|RAD17_ENST00000305138.4_Missense_Mutation_p.I521K|RAD17_ENST00000345306.6_Missense_Mutation_p.I521K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000361732.2_Missense_Mutation_p.I521K|RAD17_ENST00000380774.3_Missense_Mutation_p.I532K|RAD17_ENST00000282891.6_Missense_Mutation_p.I435K|RAD17_ENST00000354868.5_Missense_Mutation_p.I521K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	532	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGGTTTCTAATAAATAAAAAG	0.343								Other conserved DNA damage response genes					False	0	True	5:68692363	0	A	68692363	T	A	68692363	3	1	33	1	0	0	0	0	1	0	0	0	13058	1406	49	5	1658	5	RAD17	5	68692363	Missense_Mutation	SNP	T	TCGA-F2-A44G-01A-11D-A26I-08	53936354	68692363	112222897	15	2714											
HEXB	3074	broad.mit.edu	37	chr5	73981215	73981215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaggtggcggaggcggctCgggccccgagcgtctcggcc	19	14	1	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:73981215C>T	ENST00000261416.7	+	1	247	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	HEXB_ENST00000511181.1_Intron	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	44					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		GGAGGCGGCTCGGGCCCCGAG	0.711													False	0	True	5:73981215	0	T	73981215	C	T	73981215	3	4	33	1	0	0	0	0	1	0	0	0	7121	875	31	1	132	1	HEXB	5	73981215	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	5288852	73981215	106934045	16	2715											
VCAN	1462	broad.mit.edu	37	chr5	82818108	82818108	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattaatgtttatattattgAggtcagagaaaataagacag	8	3	1	3			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:82818108A>G	ENST00000265077.3	+	7	4548	c.3983A>G	c.(3982-3984)gAg>gGg	p.E1328G	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E1328G|VCAN_ENST00000512590.2_Missense_Mutation_p.E1280G|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1328	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TATATTATTGAGGTCAGAGAA	0.403													False	0	False	5:82818108	0	G	82818108	A	G	82818108	3	3	33	1	0	0	0	0	1	0	0	0	17222	304	11	4	4005	4	VCAN	5	82818108	Missense_Mutation	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08	8836893	82818108	98097152	17	2716											
TRPC7	57113	broad.mit.edu	37	chr5	135587384	135587384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgagacattgtgcagcGtgtcgtcctgcacgtgctgg	15	10	0	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:135587384G>A	ENST00000513104.1	-	6	1814	c.1532C>T	c.(1531-1533)aCg>aTg	p.T511M	TRPC7_ENST00000426057.2_Missense_Mutation_p.T395M|TRPC7_ENST00000355180.3_Missense_Mutation_p.T450M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	511					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTGTGCAGCGTGTCGTCCTG	0.602													False	0	False	5:135587384	0	A	135587384	G	A	135587384	3	1	33	1	0	0	0	0	1	0	0	0	16667	1145	40	1	1084	1	TRPC7	5	135587384	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	52769276	135587384	45327876	18	2717											
PCDHB11	0	broad.mit.edu	37	chr5	140581425	140581425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtctacttggtggtggCgttggcctcggtgtcttcgc	14	12	2	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:140581425C>T	ENST00000354757.3	+	1	2078	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A328V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		693					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A693V(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGTGGTGGCGTTGGCCTCG	0.692													False	0	True	5:140581425	0	T	140581425	C	T	140581425	3	4	33	1	0	0	0	0	1	0	0	0	11604	768	27	1	2080	1	PCDHB11	5	140581425	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	4994041	140581425	40333835	19	2718											
PCDHGA8	0	broad.mit.edu	37	chr5	140772668	140772668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagatcgggaggagctctgCgctcagagcccgcggtgtct	15	11	3	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:140772668C>T	ENST00000398604.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTCTGCGCTCAGAGCC	0.498													False	0	False	5:140772668	0	T	140772668	C	T	140772668	2	4	33	1	0	0	0	0	0	0	0	1	11628	776	27	1		1	PCDHGA8	5	140772668	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	191243	140772668	40142592	20	2719											
ZMIZ2	83637	broad.mit.edu	37	chr7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-													aagcggcagctgctgcagctGtggctgctgcggcagccact					rs142075074	by1000genomes	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678													False	1	False	7:44797065	0	-	44797109	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	44797065	7	5	33	1	0	1	0	1	0	0	0	0	17780	1377	48	0	471	0	ZMIZ2	7	44797065	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	TCGA-F2-A44G-01A-11D-A26I-08		44797065	114341598	21	2720											
ZNF716	441234	broad.mit.edu	37	chr7	57528950	57528950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccttactaaacataagagAattcatactggagagaaacc	6	9	1	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:57528950A>G	ENST00000420713.1	+	4	895	c.783A>G	c.(781-783)agA>agG	p.R261R		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AACATAAGAGAATTCATACTG	0.393													False	0	False	7:57528950	0	G	57528950	A	G	57528950	2	3	33	1	0	0	0	0	0	0	0	1	18202	243	9	4		4	ZNF716	7	57528950	Silent	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08	12731885	57528950	101609713	22	2721											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138447711	138447711	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agttctaggaagctttgtttCaaggcctgctggttctggtt	12	7	3	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:138447711C>G	ENST00000310018.2	-	6	633	c.351G>C	c.(349-351)ttG>ttC	p.L117F	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.L117F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	117					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.L117F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCTTTGTTTCAAGGCCTGCT	0.463													False	0	True	7:138447711	0	G	138447711	C	G	138447711	3	3	33	1	0	0	0	0	1	0	0	0	1174	825	29	5	2239	5	ATP6V0A4	7	138447711	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	80918761	138447711	20690952	23	2722											
ATG9B	285973	broad.mit.edu	37	chr7	150716447	150716447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacctctgcccagggaacCgagctcagctcctcctgaaa	9	16	2	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:150716447C>T	ENST00000605938.1	-	6	1053	c.978G>A	c.(976-978)tcG>tcA	p.S326S	ATG9B_ENST00000444312.1_Intron|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Silent_p.S326S	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	326					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGGGAACCGAGCTCAGCT	0.667													False	0	False	7:150716447	0	T	150716447	C	T	150716447	2	4	33	1	0	0	0	0	0	0	0	1	1107	639	23	1		1	ATG9B	7	150716447	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	12268736	150716447	8422216	24	2723											
DLGAP2	9228	broad.mit.edu	37	chr8	1626541	1626541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccccacccagtacagcgCggtgagaactgtacggaccc	10	17	0	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:1626541C>T	ENST00000421627.2	+	9	2344	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	816					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAGTACAGCGCGGTGAGAACT	0.632													False	0	False	8:1626541	0	T	1626541	C	T	1626541	3	4	33	1	0	0	0	0	1	0	0	0	4590	768	27	1	2240	1	DLGAP2	8	1626541	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		1626541	144737481	25	2724											
ZFPM2	23414	broad.mit.edu	37	chr8	106815377	106815377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccaggcttcctcaaatGggtgtgctgcgctgaagaaa	13	9	1	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:106815377G>A	ENST00000407775.2	+	8	3317	c.3067G>A	c.(3067-3069)Ggg>Agg	p.G1023R	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G891R|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G754R|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G891R|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1023					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTCCTCAAATGGGTGTGCTGC	0.433													False	0	True	8:106815377	0	A	106815377	G	A	106815377	3	1	33	1	0	0	0	0	1	0	0	0	17741	1348	47	2	3097	2	ZFPM2	8	106815377	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	105188836	106815377	39548645	26	2725											
CDK20	23552	broad.mit.edu	37	chr9	90584165	90584165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaggaattgacccagcagatCcaatgcctggggagagacgt	13	9	0	3			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr9:90584165C>A	ENST00000375883.3	-	6	1030	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	CDK20_ENST00000325303.8_Missense_Mutation_p.D263Y|CDK20_ENST00000605159.1_Missense_Mutation_p.D242Y|CDK20_ENST00000336654.5_Missense_Mutation_p.D255Y|CDK20_ENST00000375871.4_Missense_Mutation_p.W200C	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	263	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						CCCAGCAGATCCAATGCCTGG	0.597													False	0	False	9:90584165	0	A	90584165	C	A	90584165	3	1	33	1	0	0	0	0	1	0	0	0	3160	856	30	3	261	3	CDK20	9	90584165	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		90584165	50629266	27	2726											
DPCD	25911	broad.mit.edu	37	chr10	103348197	103348197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctccttcgtttttttccCtcagggtccggccctccggg	12	15	1	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:103348197C>T	ENST00000416979.2	+	4	1042	c.614C>T	c.(613-615)cCt>cTt	p.P205L	DPCD_ENST00000470165.1_Intron|DPCD_ENST00000370147.1_Intron|DPCD_ENST00000370148.2_Intron|DPCD_ENST00000370151.4_Intron			Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	31							protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						GTTTTTTTCCCTCAGGGTCCG	0.667													False	0	True	10:103348197	0	T	103348197	C	T	103348197	3	4	33	1	0	0	0	0	1	0	0	0	4741	696	24	2		2	DPCD	10	103348197	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		103348197	32186550	28	2727											
GPR26	2849	broad.mit.edu	37	chr10	125426350	125426350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcccagccgccgcgctcGccctgtcctggctcggcttc	10	21	0	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:125426350G>A	ENST00000284674.1	+	1	480	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	143					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CGCCGCGCTCGCCCTGTCCTG	0.711													False	0	True	10:125426350	0	A	125426350	G	A	125426350	3	1	33	1	0	0	0	0	1	0	0	0	6730	1087	38	1	429	1	GPR26	10	125426350	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	22078153	125426350	10108397	29	2728											
CPXM2	119587	broad.mit.edu	37	chr10	125506294	125506294	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggtcacccacgctgtcGtctcttctgcccccgcagct	11	17	3	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:125506294G>A	ENST00000241305.3	-	14	2411	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	753					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCACGCTGTCGTCTCTTCTGC	0.577													False	0	False	10:125506294	0	A	125506294	G	A	125506294	4	1	33	1	0	0	0	0	0	1	0	0	3861	1153	40	1	17	1	CPXM2	10	125506294	Nonsense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	79944	125506294	10028453	30	2729											
OR51B5	282763	broad.mit.edu	37	chr11	5364521	5364521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagaggactcccagcacCgtgggcattgtggtcagggc	15	12	1	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:5364521C>T	ENST00000300773.2	-	1	288	c.234G>A	c.(232-234)acG>acA	p.T78T	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	78			T -> K (in dbSNP:rs57273781).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCAGCACCGTGGGCATTG	0.537													False	0	False	11:5364521	0	T	5364521	C	T	5364521	2	4	33	1	0	0	0	0	0	0	0	1	11159	639	23	1		1	OR51B5	11	5364521	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		5364521	129641995	31	2730											
RTN3	10313	broad.mit.edu	37	chr11	63520109	63520109	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtagaagatctggttgacTccttgaaggttagttgtttc	12	5	1	4			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:63520109T>A	ENST00000377819.5	+	5	3023	c.2869T>A	c.(2869-2871)Tcc>Acc	p.S957T	RTN3_ENST00000537981.1_Missense_Mutation_p.S161T|RTN3_ENST00000339997.4_Missense_Mutation_p.S938T|RTN3_ENST00000540798.1_Missense_Mutation_p.S845T|RTN3_ENST00000356000.3_Missense_Mutation_p.S180T|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Missense_Mutation_p.S161T	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	957	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCTGGTTGACTCCTTGAAGGT	0.413													False	0	False	11:63520109	0	A	63520109	T	A	63520109	3	1	33	1	0	0	0	0	1	0	0	0	13806	1551	54	5	2887	5	RTN3	11	63520109	Missense_Mutation	SNP	T	TCGA-F2-A44G-01A-11D-A26I-08	58155588	63520109	71486407	32	2731											
MMP3	4314	broad.mit.edu	37	chr11	102708080	102708080	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcaatccctggaaagtcttCagctatttgcttgggaaagc	10	9	3	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:102708080C>A	ENST00000299855.5	-	9	1538	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	428	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GGAAAGTCTTCAGCTATTTGC	0.393													False	0	False	11:102708080	0	A	102708080	C	A	102708080	4	1	33	1	0	0	0	0	0	1	0	0	9733	835	29	3	159	3	MMP3	11	102708080	Nonsense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	39187971	102708080	32298436	33	2732											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	33	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		25398284	108453611	34	2733											
KRT76	51350	broad.mit.edu	37	chr12	53170616	53170616	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaatcacttcctgaattcCcccaggaaagcccccagggc	7	16	1	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:53170616C>A	ENST00000332411.2	-	1	513	c.460G>T	c.(460-462)Gga>Tga	p.G154*		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	154	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCTGAATTCCCCCAGGAAAG	0.577													False	0	True	12:53170616	0	A	53170616	C	A	53170616	4	1	33	1	0	0	0	0	0	1	0	0	8539	632	22	3	1492	3	KRT76	12	53170616	Nonsense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	27772332	53170616	80681279	35	2734											
ZFYVE26	23503	broad.mit.edu	37	chr14	68274196	68274196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacagggacagcaggccccGgctggccttgtgcagcaggc	15	13	0	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr14:68274196G>A	ENST00000347230.4	-	5	943	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R269W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	269					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGCAGGCCCCGGCTGGCCTTG	0.612													False	0	True	14:68274196	0	A	68274196	G	A	68274196	3	1	33	1	0	0	0	0	1	0	0	0	17751	1115	39	1	6966	1	ZFYVE26	14	68274196	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		68274196	39075344	36	2735											
AQR	9716	broad.mit.edu	37	chr15	35168180	35168180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctatctccagaatctgagCagcctcttccatcaaaatgt	5	12	5	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr15:35168180C>A	ENST00000156471.5	-	28	3418	c.3193G>T	c.(3193-3195)Gct>Tct	p.A1065S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1065						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGAATCTGAGCAGCCTCTTCC	0.343													False	0	False	15:35168180	0	A	35168180	C	A	35168180	3	1	33	1	0	0	0	0	1	0	0	0	837	710	25	3	1296	3	AQR	15	35168180	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		35168180	67363212	37	2736											
CCNF	899	broad.mit.edu	37	chr16	2495532	2495532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtgcctgcacctgaccGtggagtgtgtggaccggtac	15	12	0	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:2495532G>T	ENST00000397066.4	+	10	1091	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	335	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GCACCTGACCGTGGAGTGTGT	0.607													False	0	False	16:2495532	0	T	2495532	G	T	2495532	3	4	33	1	0	0	0	0	1	0	0	0	2945	1145	40	3	1041	3	CCNF	16	2495532	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		2495532	87859221	38	2737											
GRIN2A	0	broad.mit.edu	37	chr16	9934952	9934952	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcacattcatcccctcattGgttgaattgctgtaaagaaa	6	9	3	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:9934952G>T	ENST00000396573.2	-	7	1647	c.1338C>A	c.(1336-1338)acC>acA	p.T446T	GRIN2A_ENST00000404927.2_Silent_p.T446T|GRIN2A_ENST00000330684.3_Silent_p.T446T|GRIN2A_ENST00000396575.2_Silent_p.T446T|GRIN2A_ENST00000562109.1_Silent_p.T446T|GRIN2A_ENST00000535259.1_Silent_p.T289T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	446					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCCCTCATTGGTTGAATTGC	0.403													False	0	False	16:9934952	0	T	9934952	G	T	9934952	2	4	33	1	0	0	0	0	0	0	0	1	6826	1335	47	3		3	GRIN2A	16	9934952	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	7439420	9934952	80419801	39	2738											
MYH2	4620	broad.mit.edu	37	chr17	10432367	10432367	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggaggcccgctctgcctcGatttcctcctccagctcctc	9	19	1	0	rs139130605		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:10432367G>A	ENST00000245503.5	-	27	3768	c.3384C>T	c.(3382-3384)atC>atT	p.I1128I	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I1128I|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1128					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTCTGCCTCGATTTCCTCCT	0.582													False	0	False	17:10432367	0	A	10432367	G	A	10432367	2	1	33	1	0	0	0	0	0	0	0	1	10102	1048	37	1		1	MYH2	17	10432367	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		10432367	70762843	40	2739											
DNAH9	1770	broad.mit.edu	37	chr17	11837209	11837209	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcactcaggtcccctatgatGatttgcgctacctgtttgga	9	11	2	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:11837209G>A	ENST00000262442.4	+	65	12378	c.12310G>A	c.(12310-12312)Gat>Aat	p.D4104N	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.D416N|DNAH9_ENST00000454412.2_Missense_Mutation_p.D4028N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCCTATGATGATTTGCGCTA	0.532													False	0	False	17:11837209	0	A	11837209	G	A	11837209	3	1	33	1	0	0	0	0	1	0	0	0	4638	1290	45	2	12568	2	DNAH9	17	11837209	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	1404842	11837209	69358001	41	2740											
MLLT6	4302	broad.mit.edu	37	chr17	36869292	36869292	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcccatctgcctctgtccAgagggcctcagccctgggct	10	17	3	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:36869292A>G	ENST00000378137.5	+	9	997	c.906A>G	c.(904-906)ccA>ccG	p.P302P	MLLT6_ENST00000325718.7_Intron			P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	631					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCCTCTGTCCAGAGGGCCTCA	0.607			T	MLL	AL								False	0	False	17:36869292	0	G	36869292	A	G	36869292	2	3	33	1	0	0	0	0	0	0	0	1	9697	203	7	4		4	MLLT6	17	36869292	Silent	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08	25032083	36869292	44325918	42	2741											
SEPT9	10801	broad.mit.edu	37	chr17	75471704	75471704	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcagagggagggcagcTggaggctgctccagtgtgca	18	10	0	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:75471704T>A	ENST00000427180.1	+	1	380	c.104T>A	c.(103-105)cTg>cAg	p.L35Q	SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000592420.1_Intron	NM_001113495.1	NP_001106967.1	Q9UHD8	SEPT9_HUMAN	septin 9	219					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGAGGGCAGCTGGAGGCTGCT	0.662													False	0	False	17:75471704	0	A	75471704	T	A	75471704	3	1	33	1	0	0	0	0	1	0	0	0	14152	1580	55	5	924	5	SEPT9	17	75471704	Missense_Mutation	SNP	T	TCGA-F2-A44G-01A-11D-A26I-08	38602412	75471704	5723506	43	2742											
EEF2	1938	broad.mit.edu	37	chr19	3980040	3980040	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acatcctcgatgggctccacGtagcggcccatcatcaagat	9	14	2	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:3980040G>T	ENST00000309311.6	-	10	1459	c.1371C>A	c.(1369-1371)taC>taA	p.Y457*		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	457						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCTCCACGTAGCGGCCCA	0.627													False	0	False	19:3980040	0	T	3980040	G	T	3980040	4	4	33	1	0	0	0	0	0	1	0	0	4959	1140	40	3	1229	3	EEF2	19	3980040	Nonsense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08		3980040	55148943	44	2743											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	33	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-F2-A44G-01A-11D-A26I-08	10103627	14083667	45045316	45	2744											
JAK3	3718	broad.mit.edu	37	chr19	17943473	17943473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagggcacctgtattgtcGcctagcgggtcatagcggca	13	12	1	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:17943473G>A	ENST00000458235.1	-	19	2634	c.2535C>T	c.(2533-2535)ggC>ggT	p.G845G	JAK3_ENST00000527670.1_Silent_p.G845G|JAK3_ENST00000534444.1_Silent_p.G845G	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	845	Protein kinase 2.			GD -> AH (in Ref. 1; AAA19626).	B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CTGTATTGTCGCCTAGCGGGT	0.617		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								False	0	False	19:17943473	0	A	17943473	G	A	17943473	2	1	33	1	0	0	0	0	0	0	0	1	7989	1074	38	1		1	JAK3	19	17943473	Silent	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	3859806	17943473	41185510	46	2745											
DHDH	27294	broad.mit.edu	37	chr19	49447742	49447742	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagttatgaggccaagcaCgtctgggagtgcctacgcaa	13	9	1	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:49447742C>T	ENST00000221403.2	+	6	913	c.873C>T	c.(871-873)caC>caT	p.H291H	DHDH_ENST00000523250.1_Silent_p.H152H|DHDH_ENST00000522614.1_Intron	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	291					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		AGGCCAAGCACGTCTGGGAGT	0.617													False	0	False	19:49447742	0	T	49447742	C	T	49447742	2	4	33	1	0	0	0	0	0	0	0	1	4509	535	19	1		1	DHDH	19	49447742	Silent	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	31504269	49447742	9681241	47	2746											
NLRP2	55655	broad.mit.edu	37	chr19	55494630	55494632	+	In_Frame_Del	DEL	GAA	GAA	-													acaccctggagaaggaggagGaagaggatagggacggccac					rs3745905	byFrequency	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:55494630_55494632delGAA	ENST00000543010.1	+	6	1707_1709	c.1564_1566delGAA	c.(1564-1566)gaadel	p.E523del	NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	523	NACHT.|Poly-Glu.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAGGAGGAGGAAGAGGATAGGG	0.567													False	1	True	19:55494630	0	-	55494632	GAA	-	55494630	7	5	33	1	0	1	0	1	0	0	0	0	10545	1175	41	0	1582	0	NLRP2	19	55494630	In_Frame_Del	DEL	GAA	TCGA-F2-A44G-01A-11D-A26I-08	6046888	55494630	3634353	48	2747											
ZNF667	63934	broad.mit.edu	37	chr19	56953504	56953504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctttttgaagcctctcCcacatttattatatttatgt	3	8	2	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:56953504C>T	ENST00000504904.3	-	7	1579	c.860G>A	c.(859-861)gGg>gAg	p.G287E	ZNF667_ENST00000342634.3_Missense_Mutation_p.G415E|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.G287E			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GAAGCCTCTCCCACATTTATT	0.363													False	0	True	19:56953504	0	T	56953504	C	T	56953504	3	4	33	1	0	0	0	0	1	0	0	0	18157	623	22	2	976	2	ZNF667	19	56953504	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	1458874	56953504	2175479	49	2748											
ZNF835	90485	broad.mit.edu	37	chr19	57175237	57175237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggggcaggtgtagggccGctcgcccgtgtgcgtgcgct	18	13	0	0			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:57175237G>A	ENST00000537055.2	-	2	1561	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GTGTAGGGCCGCTCGCCCGTG	0.672													False	0	False	19:57175237	0	A	57175237	G	A	57175237	3	1	33	1	0	0	0	0	1	0	0	0	18268	1086	38	1	285	1	ZNF835	19	57175237	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	221733	57175237	1953746	50	2749											
GNAS	2778	broad.mit.edu	37	chr20	57429663	57429663	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgactccggggcggcccctgAcgccccagccgatcccgact	12	20	0	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr20:57429663A>C	ENST00000371100.4	+	1	1895	c.1343A>C	c.(1342-1344)gAc>gCc	p.D448A	GNAS_ENST00000371099.2_Missense_Mutation_p.D448A|GNAS_ENST00000371102.4_Missense_Mutation_p.D448A|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.T385P|GNAS_ENST00000371075.3_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCGGCCCCTGACGCCCCAGCC	0.771			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			False	0	False	20:57429663	0	C	57429663	A	C	57429663	3	2	33	1	0	0	0	0	1	0	0	0	6555	275	10	4	2087	4	GNAS	20	57429663	Missense_Mutation	SNP	A	TCGA-F2-A44G-01A-11D-A26I-08		57429663	5595857	51	2750											
APOBEC3B	9582	broad.mit.edu	37	chr22	39382043	39382043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagagattaccgaagggCgctctgcaggctgagtcagg	16	8	2	2			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr22:39382043C>T	ENST00000402182.3	+	3	456	c.401C>T	c.(400-402)gCg>gTg	p.A134V	APOBEC3B_ENST00000333467.3_Missense_Mutation_p.A134V|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.A134V			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	134					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TACCGAAGGGCGCTCTGCAGG	0.607													False	0	True	22:39382043	0	T	39382043	C	T	39382043	3	4	33	1	0	0	0	0	1	0	0	0	792	768	27	1	411	1	APOBEC3B	22	39382043	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08		39382043	11922523	52	2751											
MED14	9282	broad.mit.edu	37	chrX	40539348	40539348	+	Frame_Shift_Del	DEL	T	T	-													tcggcacagtggggagtttgTtgatggcatttaatggagcc							TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:40539348delT	ENST00000324817.1	-	21	2766	c.2648delA	c.(2647-2649)aacfs	p.N883fs	MED14_ENST00000496531.1_Intron	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	883					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGAGTTTGTTGATGGCATT	0.463													False	2	False	X:40539348	0	-	40539348	T	-	40539348	7	5	33	1	0	1	0	1	0	0	0	0	9499	1725	60	0	1760	0	MED14	23	40539348	Frame_Shift_Del	DEL	T	TCGA-F2-A44G-01A-11D-A26I-08		40539348	114731212	53	2752											
CSTF2	1478	broad.mit.edu	37	chrX	100078981	100078981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatgagaattgtggatcCggaaattgccctggtgagtg	15	5	0	3			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:100078981C>T	ENST00000415585.2	+	5	573	c.551C>T	c.(550-552)cCg>cTg	p.P184L	CSTF2_ENST00000372972.2_Missense_Mutation_p.P184L			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	184	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						ATTGTGGATCCGGAAATTGCC	0.468													False	0	False	X:100078981	0	T	100078981	C	T	100078981	3	4	33	1	0	0	0	0	1	0	0	0	4009	652	23	1	569	1	CSTF2	23	100078981	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	59539633	100078981	55191579	54	2753											
BHLHB9	80823	broad.mit.edu	37	chrX	102004384	102004384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaggagttggaacctgCggctggggccgattgcaaac	16	9	0	1	rs141213425	byFrequency	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:102004384C>T	ENST00000372735.1	+	4	1046	c.461C>T	c.(460-462)gCg>gTg	p.A154V	BHLHB9_ENST00000457056.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A154V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A154V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	154						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGGAACCTGCGGCTGGGGCC	0.493													False	0	False	X:102004384	0	T	102004384	C	T	102004384	3	4	33	1	0	0	0	0	1	0	0	0	1425	768	27	1	463	1	BHLHB9	23	102004384	Missense_Mutation	SNP	C	TCGA-F2-A44G-01A-11D-A26I-08	1925403	102004384	53266176	55	2754											
TEX13A	56157	broad.mit.edu	37	chrX	104463929	104463929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttgtggaggggatataGtgggtatgtctgagaaggag	18	2	1	1			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:104463929G>T	ENST00000372578.3	-	3	1060	c.949C>A	c.(949-951)Cta>Ata	p.L317I	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L317I|TEX13A_ENST00000413579.1_Missense_Mutation_p.T316N|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AGGGGATATAGTGGGTATGTC	0.557													False	0	False	X:104463929	0	T	104463929	G	T	104463929	3	4	33	1	0	0	0	0	1	0	0	0	15858	1020	36	3	286	3	TEX13A	23	104463929	Missense_Mutation	SNP	G	TCGA-F2-A44G-01A-11D-A26I-08	2459545	104463929	50806631	56	2755											
SORT1	6272	broad.mit.edu	37	chr1	109883487	109883487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatctgaggtaaagattgTgccaaacccagtgtctgaaa	9	8	3	3			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr1:109883487T>C	ENST00000256637.6	-	10	1181	c.1123A>G	c.(1123-1125)Aca>Gca	p.T375A	SORT1_ENST00000538502.1_Missense_Mutation_p.T238A	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	375					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GTAAAGATTGTGCCAAACCCA	0.443													False	0	False	1:109883487	0	C	109883487	T	C	109883487	3	2	34	1	0	0	0	0	1	0	0	0	15015	1696	59	4	1416	4	SORT1	1	109883487	Missense_Mutation	SNP	T	TCGA-F2-A44H-01A-11D-A26I-08		109883487	139367134	1	2756											
C2orf71	388939	broad.mit.edu	37	chr2	29295765	29295765	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatcccaaaggaatcacatgGggtgcttgtccccagcttca	9	12	2	0			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr2:29295765G>T	ENST00000331664.5	-	1	1362	c.1363C>A	c.(1363-1365)Cca>Aca	p.P455T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	455					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GAATCACATGGGGTGCTTGTC	0.552													False	0	True	2:29295765	0	T	29295765	G	T	29295765	3	4	34	1	0	0	0	0	1	0	0	0	2207	1232	43	3	2511	3	C2orf71	2	29295765	Missense_Mutation	SNP	G	TCGA-F2-A44H-01A-11D-A26I-08		29295765	213903608	2	2757											
APLF	200558	broad.mit.edu	37	chr2	68729986	68729986	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttagttgacaaatacattTtccgcattctctctataccc	4	11	2	1			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr2:68729986T>A	ENST00000303795.4	+	3	463	c.292T>A	c.(292-294)Ttc>Atc	p.F98I		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	98	FHA-like.				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAAATACATTTTCCGCATTCT	0.373													False	0	True	2:68729986	0	A	68729986	T	A	68729986	3	1	34	1	0	0	0	0	1	0	0	0	778	1841	64	5	302	5	APLF	2	68729986	Missense_Mutation	SNP	T	TCGA-F2-A44H-01A-11D-A26I-08	39434221	68729986	174469387	3	2758											
ST3GAL5	8869	broad.mit.edu	37	chr2	86075293	86075293	+	Frame_Shift_Del	DEL	T	T	-													caaacttgggacgacattccTtctgcaagacttgctgagca							TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr2:86075293delT	ENST00000377332.3	-	4	461	c.353delA	c.(352-354)aagfs	p.K118fs	ST3GAL5_ENST00000393805.1_Frame_Shift_Del_p.K90fs|ST3GAL5_ENST00000393808.3_Frame_Shift_Del_p.K95fs	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	118					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ACGACATTCCTTCTGCAAGAC	0.433													False	2	False	2:86075293	0	-	86075293	T	-	86075293	7	5	34	1	0	1	0	1	0	0	0	0	15300	1609	56	0	919	0	ST3GAL5	2	86075293	Frame_Shift_Del	DEL	T	TCGA-F2-A44H-01A-11D-A26I-08	17345307	86075293	157124080	4	2759											
MFF	56947	broad.mit.edu	37	chr2	228197304	228197305	+	Splice_Site	INS	-	-	ATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTAT													caacccctcaaaatgaagaaINSgtaagtagaactttagtatc							TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr2:228197304_228197305insATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTAT	ENST00000353339.3	+	5	870	c.429_429insATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTAT	c.(430-432)atc>atATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTATc	p.-144fs	MFF_ENST00000304593.9_Splice_Site_p.-118fs|MFF_ENST00000409616.1_Splice_Site_p.-118fs|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000349901.7_Splice_Site_p.-118fs|MFF_ENST00000409565.1_Splice_Site_p.-118fs|MFF_ENST00000337110.7_Splice_Site_p.-118fs|MFF_ENST00000392059.1_Splice_Site_p.-144fs|MFF_ENST00000354503.6_Splice_Site_p.-118fs	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor							integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAAATGAAGAAGTAAGTAGAAC	0.381													False	0	True	2:228197304	0	ATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTAT	228197305	-	ATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTAT	228197304	8	5	34	1	0	1	1	0	0	0	1	0	9586	86	3	0	439	0	MFF	2	228197304	Splice_Site	INS	-	TCGA-F2-A44H-01A-11D-A26I-08	142122011	228197304	15002069	5	2760											
AGGF1	55109	broad.mit.edu	37	chr5	76349893	76349893	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcagtgatacctgtgAtggctgtgaaccagggcagg	15	9	0	3			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr5:76349893A>T	ENST00000312916.7	+	10	1953	c.1571A>T	c.(1570-1572)gAt>gTt	p.D524V		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	524					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GATACCTGTGATGGCTGTGAA	0.408													False	0	False	5:76349893	0	T	76349893	A	T	76349893	3	4	34	1	0	0	0	0	1	0	0	0	382	333	12	5	1609	5	AGGF1	5	76349893	Missense_Mutation	SNP	A	TCGA-F2-A44H-01A-11D-A26I-08		76349893	104565367	6	2761											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	34	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-F2-A44H-01A-11D-A26I-08	2260551	78610444	102304816	7	2762											
SYNE1	23345	broad.mit.edu	37	chr6	152651474	152651474	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttggcacatcttctcgtgTtcttggtaagcactggtggt	12	8	3	0			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr6:152651474T>C	ENST00000367255.5	-	78	14947	c.14346A>G	c.(14344-14346)gaA>gaG	p.E4782E	SYNE1_ENST00000448038.1_Silent_p.E4711E|SYNE1_ENST00000423061.1_Silent_p.E4711E|SYNE1_ENST00000341594.5_Silent_p.E4529E|SYNE1_ENST00000265368.4_Silent_p.E4782E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4782					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCTCGTGTTCTTGGTAAG	0.478										HNSCC(10;0.0054)			False	0	False	6:152651474	0	C	152651474	T	C	152651474	2	2	34	1	0	0	0	0	0	0	0	1	15527	1722	60	4		4	SYNE1	6	152651474	Silent	SNP	T	TCGA-F2-A44H-01A-11D-A26I-08		152651474	18463593	8	2763											
ELMO1	9844	broad.mit.edu	37	chr7	37354484	37354484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatagaagtttgaactatcGgcatgctggagtgcaaaata	10	5	0	2			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr7:37354484G>A	ENST00000310758.4	-	4	809	c.162C>T	c.(160-162)gcC>gcT	p.A54A	ELMO1_ENST00000442504.1_Silent_p.A54A|ELMO1_ENST00000448602.1_Silent_p.A54A	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	54					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTGAACTATCGGCATGCTGGA	0.328													False	0	False	7:37354484	0	A	37354484	G	A	37354484	2	1	34	1	0	0	0	0	0	0	0	1	5097	1103	39	1		1	ELMO1	7	37354484	Silent	SNP	G	TCGA-F2-A44H-01A-11D-A26I-08		37354484	121784179	9	2764											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	34	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-F2-A44H-01A-11D-A26I-08	6799294	44153778	114984885	10	2765											
ASH2L	9070	broad.mit.edu	37	chr8	37974234	37974234	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtgtctactagtgggAatttaaatggtaagtgttta	12	3	1	0			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr8:37974234A>T	ENST00000343823.6	+	8	1153	c.844A>T	c.(844-846)Aat>Tat	p.N282Y	ASH2L_ENST00000524263.1_3'UTR|ASH2L_ENST00000428278.2_Missense_Mutation_p.N188Y|ASH2L_ENST00000545394.1_Missense_Mutation_p.N143Y|ASH2L_ENST00000521652.1_Missense_Mutation_p.N188Y|ASH2L_ENST00000250635.7_Missense_Mutation_p.N188Y	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	282					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TACTAGTGGGAATTTAAATGG	0.378													False	0	True	8:37974234	0	T	37974234	A	T	37974234	3	4	34	1	0	0	0	0	1	0	0	0	1046	246	9	5	874	5	ASH2L	8	37974234	Missense_Mutation	SNP	A	TCGA-F2-A44H-01A-11D-A26I-08		37974234	108389788	11	2766											
PXDNL	137902	broad.mit.edu	37	chr8	52321508	52321508	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgttggagccatcgatgtaGgctgtttgctggttgatctg	14	7	1	1			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr8:52321508G>C	ENST00000356297.4	-	17	2776	c.2676C>G	c.(2674-2676)gcC>gcG	p.A892A	PXDNL_ENST00000543296.1_Silent_p.A892A	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	892					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCGATGTAGGCTGTTTGCT	0.617													False	0	False	8:52321508	0	C	52321508	G	C	52321508	2	2	34	1	0	0	0	0	0	0	0	1	12927	987	35	5		5	PXDNL	8	52321508	Silent	SNP	G	TCGA-F2-A44H-01A-11D-A26I-08	14347274	52321508	94042514	12	2767											
ZNF484	83744	broad.mit.edu	37	chr9	95610736	95610736	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcttctaaaatggaataTgggtcatctcttgtgaagag	9	5	4	2			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr9:95610736T>C	ENST00000395505.2	-	3	317	c.225A>G	c.(223-225)ccA>ccG	p.P75P	ZNF484_ENST00000375495.3_Silent_p.P111P|ZNF484_ENST00000395506.3_Silent_p.P113P|ZNF484_ENST00000332591.6_Silent_p.P75P|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	111	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAATGGAATATGGGTCATCTC	0.363													False	0	True	9:95610736	0	C	95610736	T	C	95610736	2	2	34	1	0	0	0	0	0	0	0	1	18020	1451	51	4		4	ZNF484	9	95610736	Silent	SNP	T	TCGA-F2-A44H-01A-11D-A26I-08		95610736	45602695	13	2768											
RRP8	23378	broad.mit.edu	37	chr11	6622389	6622389	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccccattcaccgctggcgaaGatccctggcgatgcggtcca	11	16	1	1			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr11:6622389G>T	ENST00000254605.6	-	3	1024	c.907C>A	c.(907-909)Ctt>Att	p.L303I	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	303					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CGCTGGCGAAGATCCCTGGCG	0.572													False	0	False	11:6622389	0	T	6622389	G	T	6622389	3	4	34	1	0	0	0	0	1	0	0	0	13769	942	33	3	483	3	RRP8	11	6622389	Missense_Mutation	SNP	G	TCGA-F2-A44H-01A-11D-A26I-08		6622389	128384127	14	2769											
SLC6A5	9152	broad.mit.edu	37	chr11	20676316	20676316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccattcttagctcaacacCgcggggagcgttacaagaac	10	13	2	1	rs141654146	byFrequency	TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr11:20676316C>T	ENST00000525748.1	+	16	2569	c.2296C>T	c.(2296-2298)Cgc>Tgc	p.R766C	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	766					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGCTCAACACCGCGGGGAGCG	0.542													False	0	False	11:20676316	0	T	20676316	C	T	20676316	3	4	34	1	0	0	0	0	1	0	0	0	14767	652	23	1	2358	1	SLC6A5	11	20676316	Missense_Mutation	SNP	C	TCGA-F2-A44H-01A-11D-A26I-08	14053927	20676316	114330200	15	2770											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649792	+	In_Frame_Del	DEL	TCCCAG	TCCCAG	-													ctcaggtgaacagcccccccTcccagcccccccagcccgtc							TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	TCCCAG	TCCCAG	-	-	TCCCAG	TCCCAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr12:3649787_3649792delTCCCAG	ENST00000382622.3	+	2	481_486	c.91_96delTCCCAG	c.(91-96)tcccagdel	p.SQ31del	PRMT8_ENST00000452611.2_In_Frame_Del_p.SQ22del|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCCCCAGC	0.65													False	1	True	12:3649787	0	-	3649792	TCCCAG	-	3649787	7	5	34	1	0	1	0	1	0	0	0	0	12618	1551	54	0	97	0	PRMT8	12	3649787	In_Frame_Del	DEL	TCCCAG	TCGA-F2-A44H-01A-11D-A26I-08		3649787	130202108	16	2771											
MLF2	8079	broad.mit.edu	37	chr12	6858098	6858098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggggacgctgctgccGgaatcgggaggtctcccgcc	15	15	1	0			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr12:6858098G>A	ENST00000203630.5	-	8	1254	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	MLF2_ENST00000539187.1_Missense_Mutation_p.R204W|MLF2_ENST00000435120.1_Missense_Mutation_p.R204W|MLF2_ENST00000542154.1_Missense_Mutation_p.R204W			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	204					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						CGCTGCTGCCGGAATCGGGAG	0.687													False	0	False	12:6858098	0	A	6858098	G	A	6858098	3	1	34	1	0	0	0	0	1	0	0	0	9683	1115	39	1	140	1	MLF2	12	6858098	Missense_Mutation	SNP	G	TCGA-F2-A44H-01A-11D-A26I-08	3208311	6858098	126993797	17	2772											
TBX3	6926	broad.mit.edu	37	chr12	115112388	115112388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggctcctgcgctcctccGcgcccaggccgcgagtgctg	14	19	0	0			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr12:115112388G>A	ENST00000349155.2	-	6	2255	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	TBX3_ENST00000257566.3_Missense_Mutation_p.A451V	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	451					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GCGCTCCTCCGCGCCCAGGCC	0.751													False	0	False	12:115112388	0	A	115112388	G	A	115112388	3	1	34	1	0	0	0	0	1	0	0	0	15741	1087	38	1	887	1	TBX3	12	115112388	Missense_Mutation	SNP	G	TCGA-F2-A44H-01A-11D-A26I-08	108254290	115112388	18739507	18	2773											
POTEM	641455	broad.mit.edu	37	chr14	20019865	20019865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgtcgtagtctccccagGggcccactttgctcttgccg	11	15	2	0			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr14:20019865G>T	ENST00000551509.1	-	1	407	c.356C>A	c.(355-357)cCc>cAc	p.P119H		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	119										endometrium(4)|kidney(1)|lung(4)	9						GTCTCCCCAGGGGCCCACTTT	0.602													False	0	True	14:20019865	0	T	20019865	G	T	20019865	3	4	34	1	0	0	0	0	1	0	0	0	12337	1232	43	3	1210	3	POTEM	14	20019865	Missense_Mutation	SNP	G	TCGA-F2-A44H-01A-11D-A26I-08		20019865	87329675	19	2774											
MYH7	4625	broad.mit.edu	37	chr14	23885302	23885302	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctggatctccatctcattgaGgtctccttccatcttcttct	5	14	6	1			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr14:23885302G>C	ENST00000355349.3	-	34	5026	c.4864C>G	c.(4864-4866)Ctc>Gtc	p.L1622V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1622					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATCTCATTGAGGTCTCCTTCC	0.607													False	0	False	14:23885302	0	C	23885302	G	C	23885302	3	2	34	1	0	0	0	0	1	0	0	0	10106	1000	35	5	971	5	MYH7	14	23885302	Missense_Mutation	SNP	G	TCGA-F2-A44H-01A-11D-A26I-08	3865437	23885302	83464238	20	2775											
TRIM37	4591	broad.mit.edu	37	chr17	57158534	57158534	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcattcactttagtgacgTgttgctcataaatttctgcc	6	10	4	1			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr17:57158534T>A	ENST00000376149.3	-	6	859	c.50A>T	c.(49-51)cAc>cTc	p.H17L	TRIM37_ENST00000393065.2_Missense_Mutation_p.H105L|TRIM37_ENST00000262294.7_Missense_Mutation_p.H139L|TRIM37_ENST00000393066.3_Missense_Mutation_p.H139L			O94972	TRI37_HUMAN	tripartite motif containing 37	139						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTAGTGACGTGTTGCTCATA	0.373									Mulibrey Nanism				False	0	False	17:57158534	0	A	57158534	T	A	57158534	3	1	34	1	0	0	0	0	1	0	0	0	16594	1696	59	5	2562	5	TRIM37	17	57158534	Missense_Mutation	SNP	T	TCGA-F2-A44H-01A-11D-A26I-08		57158534	24036676	21	2776											
ALPK2	115701	broad.mit.edu	37	chr18	56274646	56274646	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcctgaccattcttataCcaagttacctctggcttggg	9	11	2	1			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr18:56274646C>T	ENST00000361673.3	-	3	348	c.135G>A	c.(133-135)tgG>tgA	p.W45*		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	45	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATTCTTATACCAAGTTACCT	0.348													False	0	False	18:56274646	0	T	56274646	C	T	56274646	4	4	34	1	0	0	0	0	0	1	0	0	545	508	18	2	6421	2	ALPK2	18	56274646	Nonsense_Mutation	SNP	C	TCGA-F2-A44H-01A-11D-A26I-08		56274646	21802602	22	2777											
BST2	684	broad.mit.edu	37	chr19	17515193	17515193	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaccctcaagctcctcCactttcttttgtccttgggc	5	16	3	0			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr19:17515193C>A	ENST00000252593.6	-	2	411	c.339G>T	c.(337-339)gtG>gtT	p.V113V	BST2_ENST00000527220.1_Intron	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	113					B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						CAAGCTCCTCCACTTTCTTTT	0.582													False	0	False	19:17515193	0	A	17515193	C	A	17515193	2	1	34	1	0	0	0	0	0	0	0	1	1541	581	21	3		3	BST2	19	17515193	Silent	SNP	C	TCGA-F2-A44H-01A-11D-A26I-08		17515193	41613790	23	2778											
SLC8A2	6543	broad.mit.edu	37	chr19	47968987	47968987	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctatgcgtctttgctcaccTggaccacaccgggggaaaaa	10	12	3	0			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr19:47968987T>C	ENST00000236877.6	-	2	1069	c.674A>G	c.(673-675)cAg>cGg	p.Q225R	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	225					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTTGCTCACCTGGACCACACC	0.478													False	0	False	19:47968987	0	C	47968987	T	C	47968987	5	2	34	1	0	0	0	0	0	0	1	0	14787	1594	55	4	2127	4	SLC8A2	19	47968987	Splice_Site	SNP	T	TCGA-F2-A44H-01A-11D-A26I-08	30453794	47968987	11159996	24	2779											
LILRA6	79168	broad.mit.edu	37	chr19	54744909	54744909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatacagaacaaatctgtcGtagccgacatcagagccaca	7	11	2	2			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr19:54744909G>A	ENST00000440558.2	-	5	801	c.753C>T	c.(751-753)taC>taT	p.Y251Y	LILRA6_ENST00000245621.5_Silent_p.Y251Y|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Silent_p.Y251Y|LILRA6_ENST00000419410.2_Silent_p.Y251Y					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAAATCTGTCGTAGCCGACAT	0.652													False	0	False	19:54744909	0	A	54744909	G	A	54744909	2	1	34	1	0	0	0	0	0	0	0	1	8841	1140	40	1		1	LILRA6	19	54744909	Silent	SNP	G	TCGA-F2-A44H-01A-11D-A26I-08	6775922	54744909	4384074	25	2780											
MCM3AP	8888	broad.mit.edu	37	chr21	47704430	47704430	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaggttcgcccaaaacCgcagatgatacagggaagct	12	9	0	2			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chr21:47704430C>T	ENST00000397708.1	-	2	1025	c.771G>A	c.(769-771)gcG>gcA	p.A257A	MCM3AP_ENST00000291688.1_Silent_p.A257A			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	257					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CGCCCAAAACCGCAGATGATA	0.468													False	0	False	21:47704430	0	T	47704430	C	T	47704430	2	4	34	1	0	0	0	0	0	0	0	1	9455	639	23	1		1	MCM3AP	21	47704430	Silent	SNP	C	TCGA-F2-A44H-01A-11D-A26I-08		47704430	425465	26	2781											
RBM10	8241	broad.mit.edu	37	chrX	47045114	47045114	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcctgtccctcttgcaGcaaaaccttgagattcaccg	6	15	3	1			TCGA-F2-A44H-01A-11D-A26I-08	TCGA-F2-A44H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b059c399-13e4-4524-9505-49b477983cfa	bc622231-2dda-44dc-b430-9f4738960c07	g.chrX:47045114G>C	ENST00000377604.3	+	21	3097		c.e21-1		RBM10_ENST00000345781.6_Splice_Site|RBM10_ENST00000329236.7_Splice_Site	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10						mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCCTCTTGCAGCAAAACCTTG	0.562													False	0	False	X:47045114	0	C	47045114	G	C	47045114	5	2	34	1	0	0	0	0	0	0	1	0	13190	985	34	5	2433	5	RBM10	23	47045114	Splice_Site	SNP	G	TCGA-F2-A44H-01A-11D-A26I-08		47045114	108225446	27	2782											
FBXO44	93611	broad.mit.edu	37	chr1	11716084	11716084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaggactgggaccagccCgtggccgactggaagatctt	14	11	1	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:11716084C>T	ENST00000376770.1	+	3	690	c.192C>T	c.(190-192)ccC>ccT	p.P64P	FBXO44_ENST00000376768.1_Silent_p.P64P|FBXO44_ENST00000251547.5_Silent_p.P64P|FBXO44_ENST00000251546.4_Silent_p.P64P|FBXO44_ENST00000376760.1_Silent_p.P64P|FBXO44_ENST00000376762.4_Silent_p.P64P	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	64					protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACCAGCCCGTGGCCGACT	0.627													False	0	True	1:11716084	0	T	11716084	C	T	11716084	2	4	35	1	0	0	0	0	0	0	0	1	5793	639	23	1		1	FBXO44	1	11716084	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		11716084	237534537	1	2783											
ARID1A	8289	broad.mit.edu	37	chr1	27099479	27099479	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatggcagcatgaggaaagGtgactgatctgattgctatt	12	5	1	4			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:27099479G>A	ENST00000324856.7	+	14	4086		c.e14+1		ARID1A_ENST00000457599.2_Splice_Site|ARID1A_ENST00000374152.2_Splice_Site|ARID1A_ENST00000540690.1_Splice_Site	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGAGGAAAGGTGACTGATCT	0.488			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								False	0	False	1:27099479	0	A	27099479	G	A	27099479	5	1	35	1	0	0	0	0	0	0	1	0	915	1275	44	2	3770	2	ARID1A	1	27099479	Splice_Site	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	15383395	27099479	222151142	2	2784											
ARID1A	8289	broad.mit.edu	37	chr1	27099947	27099947	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgtggcgatgggaccaCgacagcactatccctatgga	12	10	0	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:27099947C>T	ENST00000324856.7	+	15	4197	c.3826C>T	c.(3826-3828)Cga>Tga	p.R1276*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1276*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R893*|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1276					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R1276*(7)|p.G1274fs*7(2)|p.M1273fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGGGACCACGACAGCACTA	0.602			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								False	0	False	1:27099947	0	T	27099947	C	T	27099947	4	4	35	1	0	0	0	0	0	1	0	0	915	528	19	1	3884	1	ARID1A	1	27099947	Nonsense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	468	27099947	222150674	3	2785											
MANEAL	149175	broad.mit.edu	37	chr1	38260133	38260133	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacccgcggaggccgagccCgcccccgtgcagagcctgcg	15	19	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:38260133C>A	ENST00000373045.6	+	1	660	c.279C>A	c.(277-279)ccC>ccA	p.P93P	MANEAL_ENST00000397631.3_Silent_p.P93P	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	93	Pro-rich.					Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGCCGAGCCCGCCCCCGTGC	0.791													False	0	True	1:38260133	0	A	38260133	C	A	38260133	2	1	35	1	0	0	0	0	0	0	0	1	9289	639	23	3		3	MANEAL	1	38260133	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	11160186	38260133	210990488	4	2786											
TIE1	7075	broad.mit.edu	37	chr1	43778910	43778910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccaatatccaagtacGttgtggaggtgcaggtggct	15	8	0	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:43778910G>A	ENST00000372476.3	+	13	2111	c.2032G>A	c.(2032-2034)Gtt>Att	p.V678I	TIE1_ENST00000433781.2_Missense_Mutation_p.V323I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	678	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCCAAGTACGTTGTGGAGGT	0.632													False	0	False	1:43778910	0	A	43778910	G	A	43778910	3	1	35	1	0	0	0	0	1	0	0	0	15975	1145	40	1	2082	1	TIE1	1	43778910	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	5518777	43778910	205471711	5	2787											
SGIP1	84251	broad.mit.edu	37	chr1	67137671	67137671	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttccacaccaactccagaaCttataaggtgagtgtgaaag	9	9	0	3			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:67137671C>A	ENST00000371037.4	+	11	630	c.553C>A	c.(553-555)Ctt>Att	p.L185I	AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.L189I|SGIP1_ENST00000371039.1_Missense_Mutation_p.L153I|SGIP1_ENST00000371035.3_Missense_Mutation_p.L142I|SGIP1_ENST00000371036.3_Missense_Mutation_p.L152I	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	185	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AACTCCAGAACTTATAAGGTG	0.403													False	0	False	1:67137671	0	A	67137671	C	A	67137671	3	1	35	1	0	0	0	0	1	0	0	0	14287	565	20	3	595	3	SGIP1	1	67137671	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	23358761	67137671	182112950	6	2788											
EXTL2	2135	broad.mit.edu	37	chr1	101339575	101339576	+	Frame_Shift_Ins	INS	-	-	ATGTATTTTTTTAAGCAAC													gagtatcttaagggcatgctINSatcatagatattaacaagct							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:101339575_101339576insATGTATTTTTTTAAGCAAC	ENST00000370114.3	-	5	2351_2352	c.915_916insGTTGCTTAAAAAAATACAT	c.(913-918)gatagcfs	p.S306fs	EXTL2_ENST00000535414.1_Frame_Shift_Ins_p.S293fs|EXTL2_ENST00000370113.3_Frame_Shift_Ins_p.S306fs	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	306					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		AAGGGCATGCTATCATAGATAT	0.351													False	0	False	1:101339575	0	ATGTATTTTTTTAAGCAAC	101339576	-	ATGTATTTTTTTAAGCAAC	101339575	7	5	35	1	0	1	1	0	0	0	0	0	5359	1522	53	0	80	0	EXTL2	1	101339575	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	34201904	101339575	147911046	7	2789											
KIFAP3	22920	broad.mit.edu	37	chr1	169985603	169985603	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaatttctaaaaagcatacCtaggagtgcagtgagcttgg	10	6	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:169985603C>A	ENST00000367765.1	-	10	2564	c.1063G>T	c.(1063-1065)Ggc>Tgc	p.G355C	KIFAP3_ENST00000361580.2_Splice_Site_p.G395C|KIFAP3_ENST00000540905.1_Splice_Site_p.G97C|KIFAP3_ENST00000538366.1_Splice_Site_p.G317C|KIFAP3_ENST00000367767.1_Splice_Site_p.G351C	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	395					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAAGCATACCTAGGAGTGCA	0.413													False	0	False	1:169985603	0	A	169985603	C	A	169985603	5	1	35	1	0	0	0	0	0	0	1	0	8361	695	24	3	1239	3	KIFAP3	1	169985603	Splice_Site	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	68646028	169985603	79265018	8	2790											
DDX59	83479	broad.mit.edu	37	chr1	200613582	200613582	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatcccagaagagtctttTtgaattattattgatgaaag	7	4	1	5			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:200613582T>C	ENST00000331314.6	-	8	1873	c.1660A>G	c.(1660-1662)Aaa>Gaa	p.K554E	DDX59_ENST00000367348.3_Intron|DDX59_ENST00000447706.2_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	554	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AAGAGTCTTTTTGAATTATTA	0.363													False	0	True	1:200613582	0	C	200613582	T	C	200613582	3	2	35	1	0	0	0	0	1	0	0	0	4401	1850	64	4	203	4	DDX59	1	200613582	Missense_Mutation	SNP	T	TCGA-F2-A7TX-01A-33D-A38G-08	30627979	200613582	48637039	9	2791											
CYB5R1	51706	broad.mit.edu	37	chr1	202935980	202935980	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggagcccacagccaggccgAgcagagtgaccagccccacc	12	17	0	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:202935980A>T	ENST00000367249.4	-	2	136	c.62T>A	c.(61-63)cTc>cAc	p.L21H		NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	21					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGCCAGGCCGAGCAGAGTGAC	0.657													False	0	False	1:202935980	0	T	202935980	A	T	202935980	3	4	35	1	0	0	0	0	1	0	0	0	4151	304	11	5	887	5	CYB5R1	1	202935980	Missense_Mutation	SNP	A	TCGA-F2-A7TX-01A-33D-A38G-08	2322398	202935980	46314641	10	2792											
KLHDC8A	55220	broad.mit.edu	37	chr1	205312564	205312564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcaaggcggtccactggtCggcctccggggagtagacct	17	12	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:205312564C>T	ENST00000367156.3	-	5	985	c.169G>A	c.(169-171)Gac>Aac	p.D57N	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.D57N|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.D57N|KLHDC8A_ENST00000460687.1_Intron	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	57										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTCCACTGGTCGGCCTCCGGG	0.701													False	0	False	1:205312564	0	T	205312564	C	T	205312564	3	4	35	1	0	0	0	0	1	0	0	0	8412	884	31	1	903	1	KLHDC8A	1	205312564	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	2376584	205312564	43938057	11	2793											
AIDA	64853	broad.mit.edu	37	chr1	222885606	222885606	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagagtcgaagtcggcgccTctcctaaaactggcgcccca	10	15	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:222885606T>G	ENST00000340020.6	-	1	260	c.54A>C	c.(52-54)agA>agC	p.R18S	AIDA_ENST00000355727.2_Missense_Mutation_p.R18S|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000541237.1_Intron	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	18					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						AGTCGGCGCCTCTCCTAAAAC	0.672													False	0	False	1:222885606	0	G	222885606	T	G	222885606	3	3	35	1	0	0	0	0	1	0	0	0	423	1548	54	4	906	4	AIDA	1	222885606	Missense_Mutation	SNP	T	TCGA-F2-A7TX-01A-33D-A38G-08	17573042	222885606	26365015	12	2794											
HEATR1	55127	broad.mit.edu	37	chr1	236751303	236751303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattatcatcacctaatcggGctaaaacagcttcttttatg	5	9	3	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr1:236751303G>A	ENST00000366582.3	-	13	1685	c.1571C>T	c.(1570-1572)gCc>gTc	p.A524V	HEATR1_ENST00000366581.2_Missense_Mutation_p.A524V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	524					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACCTAATCGGGCTAAAACAGC	0.328													False	0	True	1:236751303	0	A	236751303	G	A	236751303	3	1	35	1	0	0	0	0	1	0	0	0	7074	1203	42	2	4995	2	HEATR1	1	236751303	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	13865697	236751303	12499318	13	2795											
KCNK3	3777	broad.mit.edu	37	chr2	26950912	26950912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagacgcagccgcagtacGtggccttcagcttcgtctac	11	14	2	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:26950912G>A	ENST00000302909.3	+	2	786	c.661G>A	c.(661-663)Gtg>Atg	p.V221M		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	221					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGCAGTACGTGGCCTTCAG	0.617													False	0	False	2:26950912	0	A	26950912	G	A	26950912	3	1	35	1	0	0	0	0	1	0	0	0	8117	1145	40	1	667	1	KCNK3	2	26950912	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08		26950912	216248461	14	2796											
PLEKHH2	130271	broad.mit.edu	37	chr2	43958705	43958705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgacaactctaccttcCgaagccctgcagacagaagc	7	16	2	3			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:43958705C>T	ENST00000282406.4	+	19	3017	c.2907C>T	c.(2905-2907)tcC>tcT	p.S969S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	969	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCTACCTTCCGAAGCCCTGC	0.328													False	0	False	2:43958705	0	T	43958705	C	T	43958705	2	4	35	1	0	0	0	0	0	0	0	1	12146	639	23	1		1	PLEKHH2	2	43958705	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	17007793	43958705	199240668	15	2797											
MYO7B	4648	broad.mit.edu	37	chr2	128354060	128354060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaggacactctgctggaGgtacagagaagccaggtgct	13	10	2	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:128354060G>A	ENST00000389524.4	+	19	2321	c.2268G>A	c.(2266-2268)gaG>gaA	p.E756E	MYO7B_ENST00000409816.2_Silent_p.E756E|MYO7B_ENST00000428314.1_Silent_p.E756E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	756	IQ 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTCTGCTGGAGGTACAGAGAA	0.637													False	0	False	2:128354060	0	A	128354060	G	A	128354060	2	1	35	1	0	0	0	0	0	0	0	1	10150	991	35	2		2	MYO7B	2	128354060	Silent	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	84395355	128354060	114845313	16	2798											
ARHGAP15	55843	broad.mit.edu	37	chr2	144193264	144193265	+	Frame_Shift_Ins	INS	-	-	GTAAAGAAACT													atcaaaaatgcaattgacagINSattggtatgtatttgttttg							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:144193264_144193265insGTAAAGAAACT	ENST00000295095.6	+	7	736_737	c.569_570insGTAAAGAAACT	c.(568-573)agattgfs	p.L191fs	AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	191					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GCAATTGACAGATTGGTATGTA	0.322													False	0	False	2:144193264	0	GTAAAGAAACT	144193265	-	GTAAAGAAACT	144193264	7	5	35	1	0	1	1	0	0	0	0	0	868	942	33	0	591	0	ARHGAP15	2	144193264	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	15839204	144193264	99006109	17	2799	25	2									
ARHGAP15	55843	broad.mit.edu	37	chr2	144193267	144193268	+	Splice_Site	DEL	TG	TG	-													caaaaatgcaattgacagatTggtatgtatttgttttggct							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:144193267_144193268delTG	ENST00000295095.6	+	7	739_740	c.572_573delTG	c.(571-573)ttg>t	p.L191fs	AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	191					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ATTGACAGATTGGTATGTATTT	0.327													False	1	True	2:144193267	0	-	144193268	TG	-	144193267	8	5	35	1	0	1	0	1	0	0	1	0	868	1826	63	0	594	0	ARHGAP15	2	144193267	Splice_Site	DEL	TG	TCGA-F2-A7TX-01A-33D-A38G-08	3	144193267	99006106	18	2800	25	2									
MBD5	0	broad.mit.edu	37	chr2	149227347	149227347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctgttgccggcagtgGcaacactgaaggacatagca	14	9	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:149227347G>A	ENST00000407073.1	+	9	2832	c.1835G>A	c.(1834-1836)gGc>gAc	p.G612D	MBD5_ENST00000404807.1_Missense_Mutation_p.G612D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	612						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCCGGCAGTGGCAACACTGAA	0.488													False	0	False	2:149227347	0	A	149227347	G	A	149227347	3	1	35	1	0	0	0	0	1	0	0	0	9414	1203	42	2	1849	2	MBD5	2	149227347	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	5034080	149227347	93972026	19	2801											
STK16	8576	broad.mit.edu	37	chr2	220113194	220113194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgatgaccgtggacccGcatcagcgtcctcacattcc	9	15	2	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr2:220113194G>A	ENST00000409638.3	+	8	1003	c.831G>A	c.(829-831)ccG>ccA	p.P277P	STK16_ENST00000396738.2_Silent_p.P277P|STK16_ENST00000409743.1_Silent_p.P245P|STK16_ENST00000409260.1_Silent_p.P322P|STK16_ENST00000409516.3_Silent_p.P159P	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	277	Protein kinase.		P -> L (in dbSNP:rs35454203).		protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGGACCCGCATCAGCGTC	0.567													False	0	True	2:220113194	0	A	220113194	G	A	220113194	2	1	35	1	0	0	0	0	0	0	0	1	15371	1074	38	1		1	STK16	2	220113194	Silent	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	70885847	220113194	23086179	20	2802											
QARS	5859	broad.mit.edu	37	chr3	49137511	49137511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgccctctgaaaacttgCccttgcgcattgcctgaggg	10	15	1	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr3:49137511C>T	ENST00000306125.6	-	14	1515	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D	QARS_ENST00000414533.1_Missense_Mutation_p.G382D			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	393					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGAAAACTTGCCCTTGCGCAT	0.552													False	0	True	3:49137511	0	T	49137511	C	T	49137511	3	4	35	1	0	0	0	0	1	0	0	0	12950	739	26	2	1193	2	QARS	3	49137511	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		49137511	148884919	21	2803											
TXK	7294	broad.mit.edu	37	chr4	48114421	48114421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaattacagggttctctggGcagaaaatcataaagtgcct	9	7	2	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:48114421G>A	ENST00000264316.4	-	4	368	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	95	SH3.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGTTCTCTGGGCAGAAAATCA	0.502													False	0	True	4:48114421	0	A	48114421	G	A	48114421	3	1	35	1	0	0	0	0	1	0	0	0	16870	1203	42	2	1348	2	TXK	4	48114421	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08		48114421	143039855	22	2804											
NUDT6	11162	broad.mit.edu	37	chr4	123843664	123843664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagcggtaacccgccgaagGcccggggccgtaggttcggg	17	14	0	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:123843664G>T	ENST00000304430.5	-	1	97	c.64C>A	c.(64-66)Cct>Act	p.P22T	NUDT6_ENST00000339154.2_Intron	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	22						mitochondrion|nucleus	growth factor activity|hydrolase activity			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CCCGCCGAAGGCCCGGGGCCG	0.682													False	0	True	4:123843664	0	T	123843664	G	T	123843664	3	4	35	1	0	0	0	0	1	0	0	0	10811	1203	42	3	906	3	NUDT6	4	123843664	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	75729243	123843664	67310612	23	2805											
NR3C2	0	broad.mit.edu	37	chr4	149181227	149181228	+	Frame_Shift_Ins	INS	-	-	TCCTA													cacacaccaaacatatttttINSgaaggtcttgaagatccagt							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:149181227_149181228insTCCTA	ENST00000358102.3	-	3	2161_2162	c.1799_1800insTAGGA	c.(1798-1800)tcafs	p.-600fs	NR3C2_ENST00000344721.4_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000512865.1_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000355292.3_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000511528.1_Frame_Shift_Ins_p.-600fs|NR3C2_ENST00000342437.4_Frame_Shift_Ins_p.-600fs	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AACATATTTTTGAAGGTCTTGA	0.421													False	0	True	4:149181227	0	TCCTA	149181228	-	TCCTA	149181227	7	5	35	1	0	1	1	0	0	0	0	0	10699	1799	63	0	1182	0	NR3C2	4	149181227	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	25337563	149181227	41973049	24	2806	26	2									
NR3C2	0	broad.mit.edu	37	chr4	149181228	149181229	+	Frame_Shift_Ins	INS	-	-	TGTGTAGTTTACTTGTACAGCT													acacaccaaacatatttttgINSaaggtcttgaagatccagta							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:149181228_149181229insTGTGTAGTTTACTTGTACAGCT	ENST00000358102.3	-	3	2160_2161	c.1798_1799insAGCTGTACAAGTAAACTACACA	c.(1798-1800)tcafs	p.S600fs	NR3C2_ENST00000344721.4_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000512865.1_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000355292.3_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000511528.1_Frame_Shift_Ins_p.S600fs|NR3C2_ENST00000342437.4_Frame_Shift_Ins_p.S600fs	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	600	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ACATATTTTTGAAGGTCTTGAA	0.421													False	0	False	4:149181228	0	TGTGTAGTTTACTTGTACAGCT	149181229	-	TGTGTAGTTTACTTGTACAGCT	149181228	7	5	35	1	0	1	1	0	0	0	0	0	10699	1294	45	0	1183	0	NR3C2	4	149181228	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	1	149181228	41973048	25	2807	26	2									
GUCY1B3	2983	broad.mit.edu	37	chr4	156723556	156723557	+	Frame_Shift_Ins	INS	-	-	AAAGGTGATGCTGGCAGCCCTGAGACTATTATGA													cggcacaagcgtccagtgccINStgccaaaagatatgacaatg							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:156723556_156723557insAAAGGTGATGCTGGCAGCCCTGAGACTATTATGA	ENST00000507146.1	+	11	1663_1664	c.1163_1164insAAAGGTGATGCTGGCAGCCCTGAGACTATTATGA	c.(1162-1167)cctgccfs	p.A389fs	GUCY1B3_ENST00000503520.1_Intron|GUCY1B3_ENST00000513437.1_Frame_Shift_Ins_p.A346fs|GUCY1B3_ENST00000505154.1_Frame_Shift_Ins_p.A346fs|GUCY1B3_ENST00000264424.8_Frame_Shift_Ins_p.A414fs|GUCY1B3_ENST00000505764.1_Frame_Shift_Ins_p.A394fs|GUCY1B3_ENST00000502959.1_Frame_Shift_Ins_p.A436fs			Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	414					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CGTCCAGTGCCTGCCAAAAGAT	0.485													False	0	True	4:156723556	0	AAAGGTGATGCTGGCAGCCCTGAGACTATTATGA	156723557	-	AAAGGTGATGCTGGCAGCCCTGAGACTATTATGA	156723556	7	5	35	1	0	1	1	0	0	0	0	0	6942	681	24	0	1276	0	GUCY1B3	4	156723556	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	7542328	156723556	34430720	26	2808											
SH3RF1	57630	broad.mit.edu	37	chr4	170190304	170190305	+	In_Frame_Ins	INS	-	-	AGATAAATATTACACAGTAGTGCCAAAGGT													gcaagaccttcgcagaagcaINStcaaggcgctctagacacac							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr4:170190304_170190305insAGATAAATATTACACAGTAGTGCCAAAGGT	ENST00000284637.9	-	2	400_401	c.59_60insACCTTTGGCACTACTGTGTAATATTTATCT	c.(58-60)gat>gaACCTTTGGCACTACTGTGTAATATTTATCTt	p.20_20D>EPLALLCNIYL		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	20						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCGCAGAAGCATCAAGGCGCTC	0.455													False	0	False	4:170190304	0	AGATAAATATTACACAGTAGTGCCAAAGGT	170190305	-	AGATAAATATTACACAGTAGTGCCAAAGGT	170190304	7	5	35	1	0	1	1	0	0	0	0	0	14339	214	8	0	2650	0	SH3RF1	4	170190304	In_Frame_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	13466748	170190304	20963972	27	2809											
DNAH5	1767	broad.mit.edu	37	chr5	13811871	13811871	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcgatacaagtctgggaaaGactcggtgtacagctgacga	13	8	1	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:13811871G>A	ENST00000265104.4	-	44	7396	c.7292C>T	c.(7291-7293)tCt>tTt	p.S2431F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2431	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCTGGGAAAGACTCGGTGTA	0.428									Kartagener syndrome				False	0	True	5:13811871	0	A	13811871	G	A	13811871	3	1	35	1	0	0	0	0	1	0	0	0	4634	942	33	2	6726	2	DNAH5	5	13811871	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08		13811871	167103389	28	2810											
DNAJC21	134218	broad.mit.edu	37	chr5	34950433	34950434	+	Frame_Shift_Ins	INS	-	-	TAAATATAATACT													aaccatgtgatgatccaaaaINSagtgaagctaaaaggtaagt							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:34950433_34950434insTAAATATAATACT	ENST00000382021.2	+	11	1706_1707	c.1479_1480insTAAATATAATACT	c.(1480-1482)agtfs	p.S494fs	DNAJC21_ENST00000342382.4_Frame_Shift_Ins_p.S449fs|DNAJC21_ENST00000512136.1_3'UTR|DNAJC21_ENST00000303525.7_Frame_Shift_Ins_p.S462fs	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	449					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ATGATCCAAAAAGTGAAGCTAA	0.312													False	0	True	5:34950433	0	TAAATATAATACT	34950434	-	TAAATATAATACT	34950433	7	5	35	1	0	1	1	0	0	0	0	0	4670	11	1	0	1521	0	DNAJC21	5	34950433	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	21138562	34950433	145964827	29	2811											
SLC1A3	6507	broad.mit.edu	37	chr5	36608640	36608640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtgcagaacattacaaagGaggatgttaaaagttacctg	10	5	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:36608640G>A	ENST00000265113.4	+	2	591	c.115G>A	c.(115-117)Gag>Aag	p.E39K	SLC1A3_ENST00000381918.3_Missense_Mutation_p.E39K|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	39					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CATTACAAAGGAGGATGTTAA	0.453													False	0	False	5:36608640	0	A	36608640	G	A	36608640	3	1	35	1	0	0	0	0	1	0	0	0	14514	1175	41	2	117	2	SLC1A3	5	36608640	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	1658207	36608640	144306620	30	2812											
ZNF366	0	broad.mit.edu	37	chr5	71739855	71739855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctccagcacctcgggggCgtgctccgacttggtggaca	13	14	0	0	rs112462947	byFrequency	TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:71739855C>T	ENST00000318442.5	-	5	2453	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACCTCGGGGGCGTGCTCCGAC	0.642													False	0	True	5:71739855	0	T	71739855	C	T	71739855	3	4	35	1	0	0	0	0	1	0	0	0	17953	768	27	1	275	1	ZNF366	5	71739855	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	35131215	71739855	109175405	31	2813											
PCDHGA2	0	broad.mit.edu	37	chr5	140720414	140720414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtctgcacacgggcgagGtgcgcacggcgcgagccctg	18	13	1	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr5:140720414G>A	ENST00000394576.2	+	1	1876	c.1876G>A	c.(1876-1878)Gtg>Atg	p.V626M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.V626L(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGGCGAGGTGCGCACGGC	0.687													False	0	False	5:140720414	0	A	140720414	G	A	140720414	3	1	35	1	0	0	0	0	1	0	0	0	11622	1261	44	2	1878	2	PCDHGA2	5	140720414	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	68980559	140720414	40194846	32	2814											
UBR2	23304	broad.mit.edu	37	chr6	42620364	42620364	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acataatggatatgcctggtCagagtccatgctgcaaaggg	12	8	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr6:42620364C>T	ENST00000372899.1	+	25	3008	c.2750C>T	c.(2749-2751)tCa>tTa	p.S917L	UBR2_ENST00000372883.3_Missense_Mutation_p.S421L|UBR2_ENST00000372901.1_Missense_Mutation_p.S917L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	917					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TATGCCTGGTCAGAGTCCATG	0.373													False	0	False	6:42620364	0	T	42620364	C	T	42620364	3	4	35	1	0	0	0	0	1	0	0	0	16986	838	29	2	2994	2	UBR2	6	42620364	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		42620364	128494703	33	2815											
SYNE1	23345	broad.mit.edu	37	chr6	152527344	152527344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttctgttcttccagccGcatgctggctgatttccatt	7	12	3	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr6:152527344G>A	ENST00000367255.5	-	126	23579	c.22978C>T	c.(22978-22980)Cgg>Tgg	p.R7660W	SYNE1_ENST00000341594.5_Missense_Mutation_p.R7272W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2184W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7660W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7589W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7589W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7660					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCCAGCCGCATGCTGGCT	0.478										HNSCC(10;0.0054)			False	0	False	6:152527344	0	A	152527344	G	A	152527344	3	1	35	1	0	0	0	0	1	0	0	0	15527	1086	38	1	3572	1	SYNE1	6	152527344	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	109906980	152527344	18587723	34	2816											
CYP2W1	54905	broad.mit.edu	37	chr7	1026862	1026862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccgcacttctgatgggCcggcacccggacgtgcaggg	17	13	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:1026862C>T	ENST00000340150.6	+	6	793	c.771C>T	c.(769-771)ggC>ggT	p.G257G	CYP2W1_ENST00000308919.7_Silent_p.G313G			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	313					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TTCTGATGGGCCGGCACCCGG	0.716													False	0	True	7:1026862	0	T	1026862	C	T	1026862	2	4	35	1	0	0	0	0	0	0	0	1	4201	726	26	2		2	CYP2W1	7	1026862	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		1026862	158111801	35	2817											
DNAH11	8701	broad.mit.edu	37	chr7	21611423	21611423	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttactgtgttttttacaaaGgatatatttgccaccacttt	5	7	0	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:21611423G>T	ENST00000328843.6	+	8	1456		c.e8-1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTTTACAAAGGATATATTTG	0.338									Kartagener syndrome				False	0	True	7:21611423	0	T	21611423	G	T	21611423	5	4	35	1	0	0	0	0	0	0	1	0	4629	1014	35	3	1455	3	DNAH11	7	21611423	Splice_Site	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	20584561	21611423	137527240	36	2818											
ASZ1	136991	broad.mit.edu	37	chr7	117008694	117008694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttacaggtaactcagtaAtaacattctgtacagctgtt	6	7	2	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr7:117008694A>G	ENST00000284629.2	-	11	1195	c.1133T>C	c.(1132-1134)aTt>aCt	p.I378T		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	378					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TAACTCAGTAATAACATTCTG	0.308													False	0	False	7:117008694	0	G	117008694	A	G	117008694	3	3	35	1	0	0	0	0	1	0	0	0	1073	101	4	4	306	4	ASZ1	7	117008694	Missense_Mutation	SNP	A	TCGA-F2-A7TX-01A-33D-A38G-08	95397271	117008694	42129969	37	2819											
HNF4G	3174	broad.mit.edu	37	chr8	76459877	76459877	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggaatcaatgtagatattgtCgattaagaaagtgttttaga	10	2	1	3			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:76459877C>A	ENST00000396423.2	+	3	437	c.313C>A	c.(313-315)Cga>Aga	p.R105R	HNF4G_ENST00000354370.1_Silent_p.R68R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	68					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TAGATATTGTCGATTAAGAAA	0.294													False	0	False	8:76459877	0	A	76459877	C	A	76459877	2	1	35	1	0	0	0	0	0	0	0	1	7301	876	31	3		3	HNF4G	8	76459877	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		76459877	69904145	38	2820											
UBR5	51366	broad.mit.edu	37	chr8	103335695	103335696	+	Frame_Shift_Ins	INS	-	-	ATGAATG													aaatgcaactgctccagcatINSgataaagaggattatttctc							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:103335695_103335696insATGAATG	ENST00000521922.1	-	14	2133_2134	c.1609_1610insCATTCAT	c.(1609-1611)catfs	p.H537fs	UBR5_ENST00000520539.1_Frame_Shift_Ins_p.H543fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.H543fs			O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	543					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCTCCAGCATGATAAAGAGGA	0.322													False	0	False	8:103335695	0	ATGAATG	103335696	-	ATGAATG	103335695	7	5	35	1	0	1	1	0	0	0	0	0	16989	1464	51	0	6955	0	UBR5	8	103335695	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	26875818	103335695	43028327	39	2821											
OC90	729330	broad.mit.edu	37	chr8	133048648	133048648	+	Frame_Shift_Del	DEL	C	C	-													gagagtgatcagtctgtcagCctcagtctctgcagccactg							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:133048648delC	ENST00000262283.5	-	13	1384	c.1285delG	c.(1285-1287)gctfs	p.A429fs	OC90_ENST00000443356.2_Frame_Shift_Del_p.A233fs|OC90_ENST00000254627.3_Intron|OC90_ENST00000603859.1_Intron			Q02509	OC90_HUMAN	otoconin 90	233	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGTCTGTCAGCCTCAGTCTCT	0.443													False	2	False	8:133048648	0	-	133048648	C	-	133048648	7	5	35	1	0	1	0	1	0	0	0	0	10882	754	26	0		0	OC90	8	133048648	Frame_Shift_Del	DEL	C	TCGA-F2-A7TX-01A-33D-A38G-08	29712953	133048648	13315374	40	2822											
FAM135B	51059	broad.mit.edu	37	chr8	139209792	139209792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagctctgggatgtcccGcatgatcaccaggaagtgga	14	10	2	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:139209792G>A	ENST00000395297.1	-	8	960	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	264										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGGATGTCCCGCATGATCACC	0.622										HNSCC(54;0.14)			False	0	True	8:139209792	0	A	139209792	G	A	139209792	3	1	35	1	0	0	0	0	1	0	0	0	5485	1086	38	1	3482	1	FAM135B	8	139209792	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	6161144	139209792	7154230	41	2823											
FAM135B	51059	broad.mit.edu	37	chr8	139380170	139380170	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctctctgaaagagatccacAttataaaatttatgtagctc	5	9	1	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr8:139380170A>T	ENST00000395297.1	-	2	227	c.57T>A	c.(55-57)aaT>aaA	p.N19K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	19										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGAGATCCACATTATAAAATT	0.378										HNSCC(54;0.14)			False	0	False	8:139380170	0	T	139380170	A	T	139380170	3	4	35	1	0	0	0	0	1	0	0	0	5485	214	8	5	4239	5	FAM135B	8	139380170	Missense_Mutation	SNP	A	TCGA-F2-A7TX-01A-33D-A38G-08	170378	139380170	6983852	42	2824											
LRRC19	64922	broad.mit.edu	37	chr9	26995759	26995760	+	Frame_Shift_Ins	INS	-	-	TGGTAGATGATGATGGATTTATTGAAGACAA													tgtaccatattgggcatttgINSatagcaataaaaatgagaag							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr9:26995759_26995760insTGGTAGATGATGATGGATTTATTGAAGACAA	ENST00000380055.5	-	5	982_983	c.872_873insTTGTCTTCAATAAATCCATCATCATCTACCA	c.(871-873)atcfs	p.-291fs	IFT74_ENST00000429045.2_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000380062.5_Intron|LRRC19_ENST00000482770.1_5'UTR	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19							integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		TTGGGCATTTGATAGCAATAAA	0.366													False	0	False	9:26995759	0	TGGTAGATGATGATGGATTTATTGAAGACAA	26995760	-	TGGTAGATGATGATGGATTTATTGAAGACAA	26995759	7	5	35	1	0	1	1	0	0	0	0	0	9037	1280	45	0	243	0	LRRC19	9	26995759	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08		26995759	114217672	43	2825											
OR13C2	392376	broad.mit.edu	37	chr9	107367884	107367884	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttcagaaaaaattccaccaGaatggtgtggttttcccatt	7	9	1	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr9:107367884G>C	ENST00000542196.1	-	1	67	c.25C>G	c.(25-27)Ctg>Gtg	p.L9V		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L9V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AATTCCACCAGAATGGTGTGG	0.373													False	0	False	9:107367884	0	C	107367884	G	C	107367884	3	2	35	1	0	0	0	0	1	0	0	0	11002	933	33	5	934	5	OR13C2	9	107367884	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	80372125	107367884	33845547	44	2826											
RXRA	6256	broad.mit.edu	37	chr9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcctgccggctctgcgctCcatcgggctcaaatgcctgg	12	17	2	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr9:137328351C>T	ENST00000540193.1	+	9	1912	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607													False	0	False	9:137328351	0	T	137328351	C	T	137328351	3	4	35	1	0	0	0	0	1	0	0	0	13842	855	30	2	1318	2	RXRA	9	137328351	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	29960467	137328351	3885080	45	2827											
CAMK1D	57118	broad.mit.edu	37	chr10	12870810	12870810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagtttcatttcttcttcgtCgggggtctcaggagttggag	13	7	4	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr10:12870810C>T	ENST00000378847.3	+	11	1419	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	361	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCTTCTTCGTCGGGGGTCTCA	0.592													False	0	True	10:12870810	0	T	12870810	C	T	12870810	3	4	35	1	0	0	0	0	1	0	0	0	2617	893	31	1	1159	1	CAMK1D	10	12870810	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		12870810	122663937	46	2828											
ABLIM1	3983	broad.mit.edu	37	chr10	116307515	116307515	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgcctgcccattcttgatatCtcttccgcagccggcacaat	7	16	2	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr10:116307515C>G	ENST00000533213.2	-	5	815	c.514G>C	c.(514-516)Gat>Cat	p.D172H	ABLIM1_ENST00000277895.5_Missense_Mutation_p.D232H|ABLIM1_ENST00000369252.4_Missense_Mutation_p.D172H			O14639	ABLM1_HUMAN	actin binding LIM protein 1	232	LIM zinc-binding 2.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTCTTGATATCTCTTCCGCAG	0.537													False	0	False	10:116307515	0	G	116307515	C	G	116307515	3	3	35	1	0	0	0	0	1	0	0	0	94	913	32	5	1802	5	ABLIM1	10	116307515	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	103436705	116307515	19227232	47	2829											
TRIM68	55128	broad.mit.edu	37	chr11	4623634	4623634	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atactctgttttcgggtttcCacctgtatctgtggagccaa	9	10	2	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:4623634C>A	ENST00000300747.5	-	4	820	c.531G>T	c.(529-531)gtG>gtT	p.V177V		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	177					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCGGGTTTCCACCTGTATCT	0.463													False	0	False	11:4623634	0	A	4623634	C	A	4623634	2	1	35	1	0	0	0	0	0	0	0	1	16624	581	21	3		3	TRIM68	11	4623634	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		4623634	130382882	48	2830											
OR5P3	120066	broad.mit.edu	37	chr11	7846922	7846923	+	Frame_Shift_Ins	INS	-	-	T													atagatccagaagagatagcINStggaattatttcaaaagtaa							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:7846922_7846923insT	ENST00000328375.1	-	1	596_597	c.597_598insA	c.(595-600)ccagctfs	p.A200fs	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAAGAGATAGCTGGAATTATTT	0.411													False	1	False	11:7846922	0	T	7846923	-	T	7846922	7	5	35	1	0	1	1	0	0	0	0	0	11247	797	28	0	340	0	OR5P3	11	7846922	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	3223288	7846922	127159594	49	2831											
ADM	133	broad.mit.edu	37	chr11	10327978	10327978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcttcgggacgtgcacGgtgcagaagctggcacacca	14	13	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:10327978G>A	ENST00000526492.1	+	4	542	c.379G>A	c.(379-381)Ggt>Agt	p.G127S	ADM_ENST00000525063.1_Silent_p.T116T|ADM_ENST00000534464.1_Silent_p.T69T|ADM_ENST00000530439.1_Silent_p.T48T|ADM_ENST00000278175.5_Silent_p.T116T|ADM_ENST00000528655.1_Silent_p.T116T			P35318	ADML_HUMAN	adrenomedullin	0					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GGACGTGCACGGTGCAGAAGC	0.642													False	0	False	11:10327978	0	A	10327978	G	A	10327978	3	1	35	1	0	0	0	0	1	0	0	0	321	1103	39	1	358	1	ADM	11	10327978	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	2481056	10327978	124678538	50	2832											
MTNR1B	4544	broad.mit.edu	37	chr11	92715454	92715454	+	Silent	SNP	G	G	A													gctccacccatcattggtgtGcagcaccaggcagatgctct							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:92715454G>A	ENST00000257068.2	+	2	1071	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	355					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TCATTGGTGTGCAGCACCAGG	0.582													False	0	False	11:92715454	0	A	92715454	G	A	92715454	2	1	35	1	0	0	0	0	0	0	0	1	10019	1306	46	2		2	MTNR1B	11	92715454	Silent	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	82387476	92715454	42291062	51	2833	27	2									
MTNR1B	4544	broad.mit.edu	37	chr11	92715455	92715455	+	Nonsense_Mutation	SNP	C	C	T													ctccacccatcattggtgtgCagcaccaggcagatgctctc							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:92715455C>T	ENST00000257068.2	+	2	1072	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	356					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CATTGGTGTGCAGCACCAGGC	0.587													False	0	False	11:92715455	0	T	92715455	C	T	92715455	4	4	35	1	0	0	0	0	0	1	0	0	10019	711	25	2	1072	2	MTNR1B	11	92715455	Nonsense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	1	92715455	42291061	52	2834	27	2									
NPAT	4863	broad.mit.edu	37	chr11	108040579	108040579	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaaaggcatatgaagaaCctggaagagaaaaagccatt	10	6	1	3			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:108040579C>T	ENST00000278612.8	-	15	3007	c.2902G>A	c.(2902-2904)Gtt>Att	p.V968I		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	968					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATATGAAGAACCTGGAAGAGA	0.423													False	0	False	11:108040579	0	T	108040579	C	T	108040579	5	4	35	1	0	0	0	0	0	0	1	0	10634	521	18	2	1397	2	NPAT	11	108040579	Splice_Site	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	15325124	108040579	26965937	53	2835											
TECTA	7007	broad.mit.edu	37	chr11	121023690	121023690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgactgcagccactactgCgtggagggctgtcactgcga	14	11	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr11:121023690C>T	ENST00000392793.1	+	13	4477	c.4206C>T	c.(4204-4206)tgC>tgT	p.C1402C	TECTA_ENST00000264037.2_Silent_p.C1402C			O75443	TECTA_HUMAN	tectorin alpha	1402	TIL 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCACTACTGCGTGGAGGGCT	0.622													False	0	False	11:121023690	0	T	121023690	C	T	121023690	2	4	35	1	0	0	0	0	0	0	0	1	15829	776	27	1		1	TECTA	11	121023690	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	12983111	121023690	13982826	54	2836											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	35	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		25398284	108453611	55	2837											
ANO6	196527	broad.mit.edu	37	chr12	45815050	45815050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacctgggtaaccataccaCatgcaggcaagttctgcttt	9	11	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:45815050C>A	ENST00000320560.8	+	18	2616	c.2414C>A	c.(2413-2415)aCa>aAa	p.T805K	ANO6_ENST00000423947.3_Missense_Mutation_p.T826K|ANO6_ENST00000425752.2_Missense_Mutation_p.T805K|ANO6_ENST00000435642.1_Missense_Mutation_p.T805K|ANO6_ENST00000441606.2_Missense_Mutation_p.T787K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	805					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AACCATACCACATGCAGGCAA	0.373													False	0	False	12:45815050	0	A	45815050	C	A	45815050	3	1	35	1	0	0	0	0	1	0	0	0	701	478	17	3	2504	3	ANO6	12	45815050	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	20416766	45815050	88036845	56	2838											
IQCD	115811	broad.mit.edu	37	chr12	113645289	113645289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccaattccttttcaagaGtatcaatgatttgttggtta	7	8	2	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:113645289G>A	ENST00000546692.1	-	2	1056	c.683C>T	c.(682-684)aCt>aTt	p.T228I	IQCD_ENST00000299732.2_Missense_Mutation_p.T228I|IQCD_ENST00000416617.2_Missense_Mutation_p.T228I			Q96DY2	IQCD_HUMAN	IQ motif containing D	228										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTTTTCAAGAGTATCAATGAT	0.378													False	0	False	12:113645289	0	A	113645289	G	A	113645289	3	1	35	1	0	0	0	0	1	0	0	0	7855	1029	36	2	368	2	IQCD	12	113645289	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	67830239	113645289	20206606	57	2839											
CCDC62	84660	broad.mit.edu	37	chr12	123273474	123273475	+	In_Frame_Ins	INS	-	-	TTTGAAAATGGTTATCCT													attgaagtcaacaaactaaaINSaggtaaggaagagacctaca							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:123273474_123273475insTTTGAAAATGGTTATCCT	ENST00000253079.6	+	5	1012_1013	c.668_669insTTTGAAAATGGTTATCCT	c.(667-672)aaagag>aaTTTGAAAATGGTTATCCTagag	p.223_223K>NLKMVIL	CCDC62_ENST00000392441.4_In_Frame_Ins_p.223_223K>NLKMVIL|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392440.2_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	223						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AACAAACTAAAAGGTAAGGAAG	0.351													False	0	True	12:123273474	0	TTTGAAAATGGTTATCCT	123273475	-	TTTGAAAATGGTTATCCT	123273474	7	5	35	1	0	1	1	0	0	0	0	0	2854	14	1	0	686	0	CCDC62	12	123273474	In_Frame_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	9628185	123273474	10578421	58	2840											
TMEM132D	121256	broad.mit.edu	37	chr12	130184899	130184899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacctgcactttgggccGgctcaggtagactttgtccc	11	13	1	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:130184899G>A	ENST00000422113.2	-	2	750	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	142						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTTTGGGCCGGCTCAGGTAG	0.527													False	0	False	12:130184899	0	A	130184899	G	A	130184899	3	1	35	1	0	0	0	0	1	0	0	0	16129	1115	39	1	2907	1	TMEM132D	12	130184899	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	6911425	130184899	3666996	59	2841											
RIMBP2	23504	broad.mit.edu	37	chr12	130921729	130921729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcagagtccacggactcGccctgggcggagagggtccg	16	13	0	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr12:130921729G>A	ENST00000261655.4	-	10	1876	c.1713C>T	c.(1711-1713)ggC>ggT	p.G571G	RIMBP2_ENST00000536002.1_Silent_p.G479G|RIMBP2_ENST00000535703.1_Silent_p.G479G	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	571	Fibronectin type-III 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCACGGACTCGCCCTGGGCGG	0.662													False	0	True	12:130921729	0	A	130921729	G	A	130921729	2	1	35	1	0	0	0	0	0	0	0	1	13442	1074	38	1		1	RIMBP2	12	130921729	Silent	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	736830	130921729	2930166	60	2842											
PSMA6	5687	broad.mit.edu	37	chr14	35761738	35761738	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattaccattttttcacccgAgggtcggctctaccaagtag	8	12	2	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:35761738A>G	ENST00000261479.4	+	1	176	c.56A>G	c.(55-57)gAg>gGg	p.E19G	PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.E19G|PSMA6_ENST00000556506.1_Missense_Mutation_p.E19G|PSMA6_ENST00000540871.1_Intron|KIAA0391_ENST00000557565.1_Intron	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TTTTCACCCGAGGGTCGGCTC	0.582													False	0	True	14:35761738	0	G	35761738	A	G	35761738	3	3	35	1	0	0	0	0	1	0	0	0	12747	304	11	4	58	4	PSMA6	14	35761738	Missense_Mutation	SNP	A	TCGA-F2-A7TX-01A-33D-A38G-08		35761738	71587802	61	2843											
SSTR1	0	broad.mit.edu	37	chr14	38678945	38678945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccttcctagtcacctcCacgttgttgcgccactggcc	9	17	1	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:38678945C>T	ENST00000267377.2	+	3	968	c.351C>T	c.(349-351)tcC>tcT	p.S117S		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	117					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TAGTCACCTCCACGTTGTTGC	0.577													False	0	False	14:38678945	0	T	38678945	C	T	38678945	2	4	35	1	0	0	0	0	0	0	0	1	15279	581	21	2		2	SSTR1	14	38678945	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	2917207	38678945	68670595	62	2844											
LTBP2	4053	broad.mit.edu	37	chr14	74968210	74968210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacaggtgtagccctcccGcacgcgcacacagcggccat	11	17	1	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr14:74968210G>A	ENST00000261978.4	-	35	5640	c.5254C>T	c.(5254-5256)Cgg>Tgg	p.R1752W	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1708W	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1752	EGF-like 19; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGCCCTCCCGCACGCGCACA	0.622											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	14:74968210	0	A	74968210	G	A	74968210	3	1	35	1	0	0	0	0	1	0	0	0	9136	1086	38	1	219	1	LTBP2	14	74968210	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	36289265	74968210	32381330	63	2845											
DLL4	54567	broad.mit.edu	37	chr15	41226899	41226899	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgacagcaacccctgtcgcaAtggaggcagctgtaaggtga	13	10	0	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:41226899A>T	ENST00000249749.5	+	7	1280	c.1004A>T	c.(1003-1005)aAt>aTt	p.N335I		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	335	EGF-like 4.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCTGTCGCAATGGAGGCAGC	0.592													False	0	False	15:41226899	0	T	41226899	A	T	41226899	3	4	35	1	0	0	0	0	1	0	0	0	4598	101	4	5	1030	5	DLL4	15	41226899	Missense_Mutation	SNP	A	TCGA-F2-A7TX-01A-33D-A38G-08		41226899	61304493	64	2846											
DMXL2	23312	broad.mit.edu	37	chr15	51791633	51791633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgcatttcacaatccattCctaccaccaatatcccatct	1	16	2	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:51791633C>T	ENST00000251076.5	-	18	4075	c.3788G>A	c.(3787-3789)gGa>gAa	p.G1263E	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.G1263E	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1263						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACAATCCATTCCTACCACCAA	0.423													False	0	False	15:51791633	0	T	51791633	C	T	51791633	3	4	35	1	0	0	0	0	1	0	0	0	4625	855	30	2	5429	2	DMXL2	15	51791633	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	10564734	51791633	50739759	65	2847											
UNC13C	440279	broad.mit.edu	37	chr15	54306714	54306714	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acacctctctggcactcacaGagtgattttttcactgctaa	6	12	3	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:54306714G>C	ENST00000545554.1	+	1	1614	c.1614G>C	c.(1612-1614)caG>caC	p.Q538H	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q538H|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q538H			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	538					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCACTCACAGAGTGATTTTT	0.368													False	0	False	15:54306714	0	C	54306714	G	C	54306714	3	2	35	1	0	0	0	0	1	0	0	0	17070	933	33	5	1616	5	UNC13C	15	54306714	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	2515081	54306714	48224678	66	2848											
RFX7	64864	broad.mit.edu	37	chr15	56535410	56535410	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagggccacccccgagTtgggggcgctggggggaagc	20	12	0	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr15:56535410T>C	ENST00000423270.1	-	1	73	c.74A>G	c.(73-75)aAc>aGc	p.N25S	RFX7_ENST00000317318.6_Missense_Mutation_p.N25S|RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000422057.1_5'UTR	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	672					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CACCCCCGAGTTGGGGGCGCT	0.652													False	0	False	15:56535410	0	C	56535410	T	C	56535410	3	2	35	1	0	0	0	0	1	0	0	0	13347	1725	60	4	4344	4	RFX7	15	56535410	Missense_Mutation	SNP	T	TCGA-F2-A7TX-01A-33D-A38G-08	2228696	56535410	45995982	67	2849											
XYLT1	64131	broad.mit.edu	37	chr16	17228362	17228362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccatccgtgtgcagggaCgtctcggcccgtcgaagacc	12	16	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:17228362C>T	ENST00000261381.6	-	9	2079	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	665					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.T665T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTGCAGGGACGTCTCGGCCC	0.607													False	0	False	16:17228362	0	T	17228362	C	T	17228362	2	4	35	1	0	0	0	0	0	0	0	1	17547	523	19	1		1	XYLT1	16	17228362	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		17228362	73126391	68	2850											
DNAH3	55567	broad.mit.edu	37	chr16	21082034	21082034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcatttcctcttacccgGcattctgcttctattggttt	5	12	4	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:21082034G>A	ENST00000261383.3	-	22	3197	c.3198C>T	c.(3196-3198)tgC>tgT	p.C1066C	DNAH3_ENST00000415178.1_Silent_p.C1066C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1066	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCTTACCCGGCATTCTGCTT	0.428													False	0	False	16:21082034	0	A	21082034	G	A	21082034	2	1	35	1	0	0	0	0	0	0	0	1	4633	1195	42	2		2	DNAH3	16	21082034	Silent	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	3853672	21082034	69272719	69	2851											
AP1G1	164	broad.mit.edu	37	chr16	71773244	71773245	+	Splice_Site	INS	-	-	TGAGTAATGAGATGTGGTTATTAAGAAAAAGAAGTAATAATT													aggagcagcagctggagcacINSctaaaggaaatattttaatg							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:71773244_71773245insTGAGTAATGAGATGTGGTTATTAAGAAAAAGAAGTAATAATT	ENST00000299980.4	-	20	2441	c.2000_2000insAATTATTACTTCTTTTTCTTAATAACCACATCTCATTACTCA	c.(1999-2001)ggt>gAATTATTACTTCTTTTTCTTAATAACCACATCTCATTACTCAgt	p.667_667G>ELLLLFLNNHISLLS	AP1G1_ENST00000564155.1_Splice_Site_p.92_92G>ELLLLFLNNHISLLS|AP1G1_ENST00000423132.2_Splice_Site_p.670_670G>ELLLLFLNNHISLLS|AP1G1_ENST00000433195.2_Splice_Site_p.690_690G>ELLLLFLNNHISLLS|AP1G1_ENST00000393512.3_Splice_Site_p.670_670G>ELLLLFLNNHISLLS|AP1G1_ENST00000569748.1_Splice_Site_p.667_667G>ELLLLFLNNHISLLS	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	667					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AGCTGGAGCACCTAAAGGAAAT	0.441													False	0	False	16:71773244	0	TGAGTAATGAGATGTGGTTATTAAGAAAAAGAAGTAATAATT	71773245	-	TGAGTAATGAGATGTGGTTATTAAGAAAAAGAAGTAATAATT	71773244	8	5	35	1	0	1	1	0	0	0	1	0	734	521	18	0	484	0	AP1G1	16	71773244	Splice_Site	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	50691210	71773244	18581509	70	2852	28	2									
AP1G1	164	broad.mit.edu	37	chr16	71773246	71773247	+	Splice_Site	INS	-	-	G													gagcagcagctggagcacctINSaaaggaaatattttaatgga							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:71773246_71773247insG	ENST00000299980.4	-	20	2441		c.e20-2		AP1G1_ENST00000564155.1_Splice_Site|AP1G1_ENST00000423132.2_Splice_Site|AP1G1_ENST00000433195.2_Splice_Site|AP1G1_ENST00000393512.3_Splice_Site|AP1G1_ENST00000569748.1_Splice_Site	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit						endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTGGAGCACCTAAAGGAAATAT	0.446													False	0	True	16:71773246	0	G	71773247	-	G	71773246	8	5	35	1	0	1	1	0	0	0	1	0	734	1536	53	0	486	0	AP1G1	16	71773246	Splice_Site	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	2	71773246	18581507	71	2853	28	2									
CMIP	80790	broad.mit.edu	37	chr16	81479102	81479102	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aattcctgaggcgctgggagCcgcaccacctaacgctggcc	12	15	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr16:81479102C>G	ENST00000537098.3	+	1	328	c.256C>G	c.(256-258)Ccg>Gcg	p.P86A		NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	52	PH.					cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						GCGCTGGGAGCCGCACCACCT	0.667													False	0	False	16:81479102	0	G	81479102	C	G	81479102	3	3	35	1	0	0	0	0	1	0	0	0	3601	739	26	5	258	5	CMIP	16	81479102	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	9705856	81479102	8875651	72	2854											
TP53	7157	broad.mit.edu	37	chr17	7578260	7578260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacgcaaatttccttccaCtcggataagatgctgaggag	9	11	0	2			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:7578260C>T	ENST00000420246.2	-	6	721	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	TP53_ENST00000445888.2_Missense_Mutation_p.V197M|TP53_ENST00000359597.4_Missense_Mutation_p.V197M|TP53_ENST00000413465.2_Missense_Mutation_p.V197M|TP53_ENST00000455263.2_Missense_Mutation_p.V197M|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.V197M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	197	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> E (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V197M(10)|p.0?(8)|p.V197L(6)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.V104L(1)|p.V65L(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTTCCTTCCACTCGGATAAGA	0.552		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)			False	0	False	17:7578260	0	T	7578260	C	T	7578260	3	4	35	1	0	0	0	0	1	0	0	0	16464	565	20	2	705	2	TP53	17	7578260	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08		7578260	73616950	73	2855											
GRN	2896	broad.mit.edu	37	chr17	42428464	42428464	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacactgtgtgtgacctgatCcagagtaagtgcctctccaa	10	11	1	3			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:42428464C>A	ENST00000053867.3	+	8	830	c.768C>A	c.(766-768)atC>atA	p.I256I	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_3'UTR	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	256					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTGACCTGATCCAGAGTAAGT	0.607											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:42428464	0	A	42428464	C	A	42428464	2	1	35	1	0	0	0	0	0	0	0	1	6851	845	30	3		3	GRN	17	42428464	Silent	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	34850204	42428464	38766746	74	2856											
MAPT	4137	broad.mit.edu	37	chr17	44060673	44060673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccccagagaggccacacGccaaccttcggggacaggac	14	15	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:44060673G>A	ENST00000344290.5	+	6	825	c.503G>A	c.(502-504)cGc>cAc	p.R168H	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.R168H|MAPT_ENST00000262410.5_Missense_Mutation_p.R168H|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.R168H|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000574436.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	168					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GAGGCCACACGCCAACCTTCG	0.697													False	0	False	17:44060673	0	A	44060673	G	A	44060673	3	1	35	1	0	0	0	0	1	0	0	0	9364	1087	38	1	521	1	MAPT	17	44060673	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	1632209	44060673	37134537	75	2857											
HOXB3	3213	broad.mit.edu	37	chr17	46627995	46627995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccgttggcttggaggaCgtgcggctcatactcgggcg	16	13	1	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr17:46627995C>T	ENST00000470495.1	-	2	2444	c.997G>A	c.(997-999)Gtc>Atc	p.V333I	HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.V199I|HOXB3_ENST00000460160.1_Missense_Mutation_p.V201I|HOXB3_ENST00000472863.1_Missense_Mutation_p.V260I|HOXB3_ENST00000489475.1_Missense_Mutation_p.V260I|HOXB3_ENST00000476342.1_Missense_Mutation_p.V333I|HOXB3_ENST00000311626.4_Missense_Mutation_p.V333I|HOXB3_ENST00000498678.1_Missense_Mutation_p.V333I|HOXB3_ENST00000485909.2_Missense_Mutation_p.V201I|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	333					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GCTTGGAGGACGTGCGGCTCA	0.721											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:46627995	0	T	46627995	C	T	46627995	3	4	35	1	0	0	0	0	1	0	0	0	7349	536	19	1	302	1	HOXB3	17	46627995	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	2567322	46627995	34567215	76	2858											
ACTL9	284382	broad.mit.edu	37	chr19	8808381	8808381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcggtcaggtggttgcccGccaggtccagacgctccgtg	16	13	1	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:8808381G>A	ENST00000324436.3	-	1	791	c.671C>T	c.(670-672)gCg>gTg	p.A224V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	224						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GTGGTTGCCCGCCAGGTCCAG	0.662													False	0	True	19:8808381	0	A	8808381	G	A	8808381	3	1	35	1	0	0	0	0	1	0	0	0	203	1087	38	1	583	1	ACTL9	19	8808381	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08		8808381	50320602	77	2859											
NWD1	284434	broad.mit.edu	37	chr19	16860012	16860012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgggaacagggagccaccGtcttccttagagagatccaa	11	12	1	2	rs142661674		TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:16860012G>A	ENST00000524140.2	+	6	977	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	NWD1_ENST00000523826.1_5'UTR|NWD1_ENST00000339803.6_Missense_Mutation_p.V52I|NWD1_ENST00000549814.1_Missense_Mutation_p.V187I|NWD1_ENST00000379808.3_Missense_Mutation_p.V187I|NWD1_ENST00000552788.1_Missense_Mutation_p.V187I	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	187							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGAGCCACCGTCTTCCTTAG	0.582													False	0	False	19:16860012	0	A	16860012	G	A	16860012	3	1	35	1	0	0	0	0	1	0	0	0	10849	1145	40	1	160	1	NWD1	19	16860012	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	8051631	16860012	42268971	78	2860											
MYO9B	4650	broad.mit.edu	37	chr19	17313080	17313080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctagatgagttcacccgtGgctacaccaagaacgacttc	9	12	1	3			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:17313080G>A	ENST00000595618.1	+	28	4956	c.4804G>A	c.(4804-4806)Ggc>Agc	p.G1602S	MYO9B_ENST00000594824.1_Missense_Mutation_p.G1602S|MYO9B_ENST00000397274.2_Missense_Mutation_p.G1602S	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1602	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTTCACCCGTGGCTACACCAA	0.597													False	0	False	19:17313080	0	A	17313080	G	A	17313080	3	1	35	1	0	0	0	0	1	0	0	0	10152	1348	47	2	4910	2	MYO9B	19	17313080	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	453068	17313080	41815903	79	2861											
RYR1	6261	broad.mit.edu	37	chr19	38976774	38976774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgacggtgggcagcacgctCgcgaccccgtcgggggctcc	17	16	0	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:38976774C>T	ENST00000355481.4	+	34	5610	c.5479C>T	c.(5479-5481)Cgc>Tgc	p.R1827C	RYR1_ENST00000359596.3_Missense_Mutation_p.R1827C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1827C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1827	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGCACGCTCGCGACCCCGT	0.692													False	0	False	19:38976774	0	T	38976774	C	T	38976774	3	4	35	1	0	0	0	0	1	0	0	0	13847	884	31	1	5613	1	RYR1	19	38976774	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	21663694	38976774	20152209	80	2862											
CCDC8	83987	broad.mit.edu	37	chr19	46915715	46915715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccgccgcgggccctggCggctcttgtctctggaggtc	15	16	2	0			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:46915715C>T	ENST00000307522.3	-	1	1126	c.353G>A	c.(352-354)cGc>cAc	p.R118H		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	118						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CGGGCCCTGGCGGCTCTTGTC	0.637													False	0	False	19:46915715	0	T	46915715	C	T	46915715	3	4	35	1	0	0	0	0	1	0	0	0	2874	768	27	1	1267	1	CCDC8	19	46915715	Missense_Mutation	SNP	C	TCGA-F2-A7TX-01A-33D-A38G-08	7938941	46915715	12213268	81	2863											
ZNF154	7710	broad.mit.edu	37	chr19	58216263	58216263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctccagcatcacatcacGgtacaggcatctttgagcct	8	13	4	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:58216263G>A	ENST00000512439.2	-	2	314	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.R40C			Q13106	ZN154_HUMAN	zinc finger protein 154	40	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCACATCACGGTACAGGCAT	0.507													False	0	False	19:58216263	0	A	58216263	G	A	58216263	3	1	35	1	0	0	0	0	1	0	0	0	17818	1116	39	1	1203	1	ZNF154	19	58216263	Missense_Mutation	SNP	G	TCGA-F2-A7TX-01A-33D-A38G-08	11300548	58216263	912720	82	2864											
CHMP2A	27243	broad.mit.edu	37	chr19	59063528	59063530	+	In_Frame_Del	DEL	TCT	TCT	-													ccgctcaaactccatcatgaTcttctggatctggggcaact							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr19:59063528_59063530delTCT	ENST00000600118.1	-	3	796_798	c.371_373delAGA	c.(370-375)aagatc>atc	p.K124del	CHMP2A_ENST00000312547.2_In_Frame_Del_p.K124del|CHMP2A_ENST00000601220.1_In_Frame_Del_p.K124del			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	124	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TCCATCATGATCTTCTGGATCTG	0.517													False	2	False	19:59063528	0	-	59063530	TCT	-	59063528	7	5	35	1	0	1	0	1	0	0	0	0	3377	1435	50	0	307	0	CHMP2A	19	59063528	In_Frame_Del	DEL	TCT	TCGA-F2-A7TX-01A-33D-A38G-08	847265	59063528	65455	83	2865											
STAU1	6780	broad.mit.edu	37	chr20	47734946	47734947	+	Splice_Site	INS	-	-	ATTGCG													ctggtttctttatgggtgtcINSttaaaaaagaagaagaaaaa							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr20:47734946_47734947insATTGCG	ENST00000371856.2	-	10	1524		c.e10-1		STAU1_ENST00000360426.4_Splice_Site|STAU1_ENST00000347458.5_Splice_Site|STAU1_ENST00000371828.3_Splice_Site|STAU1_ENST00000371802.1_Splice_Site|STAU1_ENST00000340954.7_Splice_Site|STAU1_ENST00000371792.1_Splice_Site	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1							microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTATGGGTGTCTTAAAAAAGAA	0.371													False	0	False	20:47734946	0	ATTGCG	47734947	-	ATTGCG	47734946	8	5	35	1	0	1	1	0	0	0	1	0	15354	927	32	0	640	0	STAU1	20	47734946	Splice_Site	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08		47734946	15290574	84	2866											
SYCP2	10388	broad.mit.edu	37	chr20	58449064	58449065	+	Frame_Shift_Ins	INS	-	-	TCTCTTTATCAGATATATCTGAAGGTAGTAA													gataaggtgatatagattttINSgttatgcagtcataatcctg							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr20:58449064_58449065insTCTCTTTATCAGATATATCTGAAGGTAGTAA	ENST00000357552.3	-	35	3626_3627	c.3401_3402insTTACTACCTTCAGATATATCTGATAAAGAGA	c.(3400-3402)acafs	p.-1134fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.-1134fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATATAGATTTTGTTATGCAGTC	0.302													False	0	True	20:58449064	0	TCTCTTTATCAGATATATCTGAAGGTAGTAA	58449065	-	TCTCTTTATCAGATATATCTGAAGGTAGTAA	58449064	7	5	35	1	0	1	1	0	0	0	0	0	15514	1799	63	0	1234	0	SYCP2	20	58449064	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08	10714118	58449064	4576456	85	2867											
TAF4	6874	broad.mit.edu	37	chr20	60585136	60585136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggtggtcgcccctggtAccgtgcgctgaggagtcccc	15	13	0	1			TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chr20:60585136A>G	ENST00000252996.4	-	4	1726	c.1727T>C	c.(1726-1728)gTa>gCa	p.V576A	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CGCCCCTGGTACCGTGCGCTG	0.617													False	0	False	20:60585136	0	G	60585136	A	G	60585136	3	3	35	1	0	0	0	0	1	0	0	0	15608	391	14	4	1578	4	TAF4	20	60585136	Missense_Mutation	SNP	A	TCGA-F2-A7TX-01A-33D-A38G-08	2136072	60585136	2440384	86	2868											
HUWE1	10075	broad.mit.edu	37	chrX	53563494	53563495	+	Frame_Shift_Ins	INS	-	-	G													ggaagatggattgatggtgtINSaggtgactcgatcaccaggt							TCGA-F2-A7TX-01A-33D-A38G-08	TCGA-F2-A7TX-10B-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04d11793-f998-472a-81df-bca545178c43	d52d53f1-cb19-490a-853c-a8d6f6a5b7aa	g.chrX:53563494_53563495insG	ENST00000342160.3	-	78	12728_12729	c.12271_12272insC	c.(12271-12273)tacfs	p.Y4091fs	HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.Y4091fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4091	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATTGATGGTGTAGGTGACTCGA	0.505													False	0	False	X:53563494	0	G	53563495	-	G	53563494	7	5	35	1	0	1	1	0	0	0	0	0	7511	1638	57	0	876	0	HUWE1	23	53563494	Frame_Shift_Ins	INS	-	TCGA-F2-A7TX-01A-33D-A38G-08		53563494	101707066	87	2869											
TAS1R2	80834	broad.mit.edu	37	chr1	19181067	19181067	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggcccaggactcggaggcGatccacacggcgccagtgaa	14	13	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:19181067G>A	ENST00000375371.3	-	3	918	c.897C>T	c.(895-897)atC>atT	p.I299I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	299					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ACTCGGAGGCGATCCACACGG	0.642													False	0	False	1:19181067	0	A	19181067	G	A	19181067	2	1	36	1	0	0	0	0	0	0	0	1	15645	1048	37	1		1	TAS1R2	1	19181067	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		19181067	230069554	1	2870											
ARID1A	8289	broad.mit.edu	37	chr1	27101098	27101098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatttccattccagtttggCcgagaccgtgtctctgcacc	8	14	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:27101098C>T	ENST00000324856.7	+	18	4751	c.4380C>T	c.(4378-4380)ggC>ggT	p.G1460G	ARID1A_ENST00000374152.2_Silent_p.G1077G|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1460					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCAGTTTGGCCGAGACCGTG	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								False	0	False	1:27101098	0	T	27101098	C	T	27101098	2	4	36	1	0	0	0	0	0	0	0	1	915	726	26	2		2	ARID1A	1	27101098	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	7920031	27101098	222149523	2	2871											
MECR	51102	broad.mit.edu	37	chr1	29543138	29543138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatggattgataggggccGccagcatcttcacacggaca	12	11	2	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:29543138G>A	ENST00000373791.3	-	2	380	c.8C>T	c.(7-9)gCg>gTg	p.A3V	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Missense_Mutation_p.A79V	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	79					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GATAGGGGCCGCCAGCATCTT	0.463													False	0	False	1:29543138	0	A	29543138	G	A	29543138	3	1	36	1	0	0	0	0	1	0	0	0	9491	1087	38	1	921	1	MECR	1	29543138	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2442040	29543138	219707483	3	2872											
MAP7D1	55700	broad.mit.edu	37	chr1	36638181	36638181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttaaagccgagcaacgcCgtgcagccctggaggaacgg	14	12	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:36638181C>T	ENST00000316156.4	+	4	1030	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.R193C|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R193C			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	193						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CGAGCAACGCCGTGCAGCCCT	0.627													False	0	False	1:36638181	0	T	36638181	C	T	36638181	3	4	36	1	0	0	0	0	1	0	0	0	9334	652	23	1	591	1	MAP7D1	1	36638181	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	7095043	36638181	212612440	4	2873											
GRIK3	2899	broad.mit.edu	37	chr1	37346245	37346245	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacccacctgtactgtcGtcatagaccacggtggctga	11	14	1	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:37346245G>A	ENST00000373091.3	-	3	556	c.540C>T	c.(538-540)gaC>gaT	p.D180D	GRIK3_ENST00000373093.4_Silent_p.D180D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	180					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.D180D(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTGTACTGTCGTCATAGACCA	0.612													False	0	False	1:37346245	0	A	37346245	G	A	37346245	2	1	36	1	0	0	0	0	0	0	0	1	6822	1136	40	1		1	GRIK3	1	37346245	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	708064	37346245	211904376	5	2874											
AGBL4	84871	broad.mit.edu	37	chr1	49511348	49511348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgagtgtatgtatatgGgtagcagtaagcaaactggt	14	4	0	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:49511348G>A	ENST00000371839.1	-	5	618	c.502C>T	c.(502-504)Cca>Tca	p.P168S	AGBL4_ENST00000371838.1_Missense_Mutation_p.P168S|AGBL4_ENST00000371836.1_Missense_Mutation_p.P168S	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	168					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TATGTATATGGGTAGCAGTAA	0.458													False	0	True	1:49511348	0	A	49511348	G	A	49511348	3	1	36	1	0	0	0	0	1	0	0	0	377	1232	43	2	1049	2	AGBL4	1	49511348	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	12165103	49511348	199739273	6	2875											
SGIP1	84251	broad.mit.edu	37	chr1	67147697	67147697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttttctgatacatccccGgaacatgttactccggagtt	7	11	1	1	rs146689605	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:67147697G>A	ENST00000371037.4	+	15	1037	c.960G>A	c.(958-960)ccG>ccA	p.P320P	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.P324P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	320	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATACATCCCCGGAACATGTTA	0.522													False	0	True	1:67147697	0	A	67147697	G	A	67147697	2	1	36	1	0	0	0	0	0	0	0	1	14287	1103	39	1		1	SGIP1	1	67147697	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	17636349	67147697	182102924	7	2876											
WDR63	126820	broad.mit.edu	37	chr1	85575766	85575766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaaacaagtttagaccaCtgtccaaccaagataagcct	8	10	0	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:85575766C>T	ENST00000294664.6	+	16	1914	c.1734C>T	c.(1732-1734)caC>caT	p.H578H	WDR63_ENST00000326813.8_Silent_p.H539H|WDR63_ENST00000370596.1_Silent_p.H539H	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	578										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTTTAGACCACTGTCCAACCA	0.388													False	0	False	1:85575766	0	T	85575766	C	T	85575766	2	4	36	1	0	0	0	0	0	0	0	1	17398	564	20	2		2	WDR63	1	85575766	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	18428069	85575766	163674855	8	2877											
DENND2C	163259	broad.mit.edu	37	chr1	115130471	115130471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggttccctttggaaaacaCgctccccacgctcagtgaca	8	14	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:115130471C>T	ENST00000393274.1	-	19	3159	c.2534G>A	c.(2533-2535)cGt>cAt	p.R845H	DENND2C_ENST00000393276.3_Missense_Mutation_p.R788H|DENND2C_ENST00000393277.1_Missense_Mutation_p.R733H|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	845	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGAAAACACGCTCCCCACG	0.478													False	0	False	1:115130471	0	T	115130471	C	T	115130471	3	4	36	1	0	0	0	0	1	0	0	0	4460	536	19	1	264	1	DENND2C	1	115130471	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	29554705	115130471	134120150	9	2878											
GBA	2629	broad.mit.edu	37	chr1	155210420	155210420	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgccttgactcactcaCctgatgcccacgacactgcc	6	19	2	2	rs104886460		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155210420C>T	ENST00000327247.5	-	3	348		c.e3+1		GBA_ENST00000368373.3_Splice_Site|GBA_ENST00000427500.2_Splice_Site|GBA_ENST00000493842.1_Splice_Site|GBA_ENST00000536770.1_Splice_Site|GBA_ENST00000428024.2_Intron	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid						carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GACTCACTCACCTGATGCCCA	0.527									Gaucher disease type I				False	0	True	1:155210420	0	T	155210420	C	T	155210420	5	4	36	1	0	0	0	0	0	0	1	0	6309	521	18	2	1534	2	GBA	1	155210420	Splice_Site	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	40079949	155210420	94040201	10	2879											
GBA	2629	broad.mit.edu	37	chr1	155210490	155210490	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccatgatgcttaccctacTcaaaggcttgggacattcct	8	12	1	1	rs1141804		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155210490T>C	ENST00000327247.5	-	3	278	c.46A>G	c.(46-48)Agt>Ggt	p.S16G	GBA_ENST00000368373.3_Missense_Mutation_p.S16G|GBA_ENST00000427500.2_Missense_Mutation_p.S16G|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000536770.1_Missense_Mutation_p.S16G|GBA_ENST00000428024.2_Intron	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	16					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	CTTACCCTACTCAAAGGCTTG	0.547									Gaucher disease type I				False	0	False	1:155210490	0	C	155210490	T	C	155210490	3	2	36	1	0	0	0	0	1	0	0	0	6309	1551	54	4	1604	4	GBA	1	155210490	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	70	155210490	94040131	11	2880											
PKLR	5313	broad.mit.edu	37	chr1	155262971	155262971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaatatccccctcaccggCcagttgtggtcagcacaatg	8	16	2	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155262971C>T	ENST00000392414.3	-	9	1453	c.1340G>A	c.(1339-1341)gGc>gAc	p.G447D	PKLR_ENST00000342741.4_Missense_Mutation_p.G478D	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	478					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CCCTCACCGGCCAGTTGTGGT	0.607													False	0	False	1:155262971	0	T	155262971	C	T	155262971	3	4	36	1	0	0	0	0	1	0	0	0	12045	739	26	2	303	2	PKLR	1	155262971	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	52481	155262971	93987650	12	2881											
ASH1L	55870	broad.mit.edu	37	chr1	155408246	155408246	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatttacactctgaacAacagcctcaattacatctgt	4	11	4	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155408246A>G	ENST00000368346.3	-	5	6339	c.5700T>C	c.(5698-5700)gtT>gtC	p.V1900V	ASH1L_ENST00000392403.3_Silent_p.V1900V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1900					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACTCTGAACAACAGCCTCAA	0.453													False	0	False	1:155408246	0	G	155408246	A	G	155408246	2	3	36	1	0	0	0	0	0	0	0	1	1045	117	5	4		4	ASH1L	1	155408246	Silent	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	145275	155408246	93842375	13	2882											
ARHGEF11	9826	broad.mit.edu	37	chr1	156926239	156926239	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttagggaagaacggtagCcacttgtccttgtcaggagc	13	9	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:156926239C>T	ENST00000368194.3	-	19	2683	c.1644G>A	c.(1642-1644)tgG>tgA	p.W548*	ARHGEF11_ENST00000361409.2_Nonsense_Mutation_p.W508*	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	508					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGAACGGTAGCCACTTGTCCT	0.552													False	0	False	1:156926239	0	T	156926239	C	T	156926239	4	4	36	1	0	0	0	0	0	1	0	0	898	740	26	2	3136	2	ARHGEF11	1	156926239	Nonsense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	1517993	156926239	92324382	14	2883											
ETV3L	440695	broad.mit.edu	37	chr1	157068573	157068573	+	Silent	SNP	C	C	T													agcagcaagtggggggatggCggcgcccgcacttcccacaa							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:157068573C>T	ENST00000454449.2	-	3	695	c.411G>A	c.(409-411)ccG>ccA	p.P137P		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	137						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGGGGATGGCGGCGCCCGCA	0.592													False	0	False	1:157068573	0	T	157068573	C	T	157068573	2	4	36	1	0	0	0	0	0	0	0	1	5312	755	27	1		1	ETV3L	1	157068573	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	142334	157068573	92182048	15	2884	29	2									
ETV3L	440695	broad.mit.edu	37	chr1	157068581	157068581	+	Missense_Mutation	SNP	G	G	A													gtggggggatggcggcgcccGcacttcccacaaaggatagt							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:157068581G>A	ENST00000454449.2	-	3	687	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	135						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGCGGCGCCCGCACTTCCCAC	0.577													False	0	True	1:157068581	0	A	157068581	G	A	157068581	3	1	36	1	0	0	0	0	1	0	0	0	5312	1086	38	1	694	1	ETV3L	1	157068581	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	8	157068581	92182040	16	2885	29	2									
OR10X1	128367	broad.mit.edu	37	chr1	158548759	158548759	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cattcttctaaaagcattttTcatgtccttattcctcaggc	4	11	4	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:158548759T>A	ENST00000368150.1	-	1	930	c.931A>T	c.(931-933)Aaa>Taa	p.K311*		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAAGCATTTTTCATGTCCTTA	0.438													False	0	True	1:158548759	0	A	158548759	T	A	158548759	4	1	36	1	0	0	0	0	0	1	0	0	10990	1792	62	5	44	5	OR10X1	1	158548759	Nonsense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	1480178	158548759	90701862	17	2886											
SPTA1	6708	broad.mit.edu	37	chr1	158612287	158612287	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgcacctgctcagatcGgccatcgacttcatgtgcaa	9	14	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:158612287G>A	ENST00000368148.3	-	33	4831	c.4651C>T	c.(4651-4653)Cga>Tga	p.R1551*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.R1551*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1551					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCTCAGATCGGCCATCGACT	0.438													False	0	False	1:158612287	0	A	158612287	G	A	158612287	4	1	36	1	0	0	0	0	0	1	0	0	15198	1124	39	1	2688	1	SPTA1	1	158612287	Nonsense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	63528	158612287	90638334	18	2887											
OLFML2B	25903	broad.mit.edu	37	chr1	161953664	161953664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggttgtagctatccacgGcatacagcaccccacagatg	10	13	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:161953664G>A	ENST00000294794.3	-	8	2477	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V|OLFML2B_ENST00000367940.2_Missense_Mutation_p.A686V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	685	Olfactomedin-like.							p.A685V(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTATCCACGGCATACAGCAC	0.562													False	0	False	1:161953664	0	A	161953664	G	A	161953664	3	1	36	1	0	0	0	0	1	0	0	0	10926	1203	42	2	202	2	OLFML2B	1	161953664	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	3341377	161953664	87296957	19	2888											
THADA	63892	broad.mit.edu	37	chr2	43768407	43768407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatacttctccaacaaCataccagcaccatctgcgca	3	17	3	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:43768407C>T	ENST00000405006.4	-	21	3506	c.3155G>A	c.(3154-3156)tGt>tAt	p.C1052Y	THADA_ENST00000330266.7_Missense_Mutation_p.C762Y|THADA_ENST00000415080.2_Missense_Mutation_p.C762Y|THADA_ENST00000405975.2_Missense_Mutation_p.C1052Y	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1052							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTCCAACAACATACCAGCAC	0.413													False	0	False	2:43768407	0	T	43768407	C	T	43768407	3	4	36	1	0	0	0	0	1	0	0	0	15922	478	17	2	2778	2	THADA	2	43768407	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		43768407	199430966	20	2889											
BCL11A	53335	broad.mit.edu	37	chr2	60688454	60688454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcccacgcccacgaccgcGccccgcgagctgttctcgtg	11	20	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:60688454G>A	ENST00000335712.6	-	4	1820	c.1593C>T	c.(1591-1593)ggC>ggT	p.G531G	BCL11A_ENST00000358510.4_Silent_p.G497G|BCL11A_ENST00000356842.4_Silent_p.G531G|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.G497G|BCL11A_ENST00000537768.1_Silent_p.G200G|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	531					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCACGACCGCGCCCCGCGAGC	0.697			T	IGH@	B-CLL								False	0	True	2:60688454	0	A	60688454	G	A	60688454	2	1	36	1	0	0	0	0	0	0	0	1	1367	1074	38	1		1	BCL11A	2	60688454	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	16920047	60688454	182510919	21	2890											
ALMS1	7840	broad.mit.edu	37	chr2	73646378	73646378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccctctctggaggaggGcatattgacgcaatcagaaa	10	11	2	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:73646378G>A	ENST00000264448.6	+	3	689	c.578G>A	c.(577-579)gGc>gAc	p.G193D	ALMS1_ENST00000409009.1_Missense_Mutation_p.G151D|ALMS1_ENST00000377715.1_Missense_Mutation_p.G193D	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	193					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGGAGGAGGGCATATTGACG	0.418													False	0	True	2:73646378	0	A	73646378	G	A	73646378	3	1	36	1	0	0	0	0	1	0	0	0	535	1203	42	2	588	2	ALMS1	2	73646378	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	12957924	73646378	169552995	22	2891											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	36	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-F2-A8YN-01A-11D-A377-08	24200987	97847365	145352008	23	2892											
STEAP3	55240	broad.mit.edu	37	chr2	120005741	120005741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctgcttgccgctgcgcCgcgcccaccgctacgacctg	11	19	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:120005741C>T	ENST00000354888.5	+	4	1483	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	STEAP3_ENST00000450943.2_Missense_Mutation_p.R327C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R327C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R327C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R337C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	327	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCGCTGCGCCGCGCCCACCG	0.647													False	0	True	2:120005741	0	T	120005741	C	T	120005741	3	4	36	1	0	0	0	0	1	0	0	0	15361	652	23	1	1019	1	STEAP3	2	120005741	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	22158376	120005741	123193632	24	2893											
WDR33	55339	broad.mit.edu	37	chr2	128466262	128466262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctcttacctttgcctcctCggtcttcagaagggcctcct	8	15	3	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:128466262C>T	ENST00000322313.4	-	21	3928	c.3770G>A	c.(3769-3771)cGa>cAa	p.R1257Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1257					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTTGCCTCCTCGGTCTTCAGA	0.612													False	0	False	2:128466262	0	T	128466262	C	T	128466262	3	4	36	1	0	0	0	0	1	0	0	0	17371	884	31	1	248	1	WDR33	2	128466262	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	8460521	128466262	114733111	25	2894											
LRP1B	53353	broad.mit.edu	37	chr2	141200074	141200074	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagtcacagacactcaccGcagttggcctcgtctgatgc	10	14	3	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:141200074G>A	ENST00000389484.3	-	66	11384	c.10414_splice	c.e66+1	p.C3471_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3471	LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACACTCACCGCAGTTGGCCT	0.448										TSP Lung(27;0.18)			False	0	False	2:141200074	0	A	141200074	G	A	141200074	5	1	36	1	0	0	0	0	0	0	1	0	9017	1101	38	1	3490	1	LRP1B	2	141200074	Splice_Site	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	12733812	141200074	101999299	26	2895											
LRP1B	53353	broad.mit.edu	37	chr2	141267495	141267495	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccctggccagtgttcatAccgcagcctgctgtggaaag	12	13	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:141267495A>G	ENST00000389484.3	-	52	9370		c.e52+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTGTTCATACCGCAGCCTG	0.512										TSP Lung(27;0.18)			False	0	False	2:141267495	0	G	141267495	A	G	141267495	5	3	36	1	0	0	0	0	0	0	1	0	9017	405	14	4	5559	4	LRP1B	2	141267495	Splice_Site	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	67421	141267495	101931878	27	2896											
XIRP2	129446	broad.mit.edu	37	chr2	168100148	168100148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttattagagatggttcggGccaaatgctggaaattaaaa	11	4	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:168100148G>A	ENST00000409195.1	+	9	2335	c.2246G>A	c.(2245-2247)gGc>gAc	p.G749D	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G527D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G749D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	574					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGGTTCGGGCCAAATGCTG	0.383													False	0	True	2:168100148	0	A	168100148	G	A	168100148	3	1	36	1	0	0	0	0	1	0	0	0	17514	1203	42	2	2276	2	XIRP2	2	168100148	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	26832653	168100148	75099225	28	2897											
CRYGD	1421	broad.mit.edu	37	chr2	208988967	208988967	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcatagagcatccagcagcCgctgtccacgcgcgccgagt	11	16	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:208988967C>G	ENST00000264376.4	-	2	148	c.121G>C	c.(121-123)Ggc>Cgc	p.G41R		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	41	Beta/gamma crystallin 'Greek key' 2.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		ATCCAGCAGCCGCTGTCCACG	0.662													False	0	False	2:208988967	0	G	208988967	C	G	208988967	3	3	36	1	0	0	0	0	1	0	0	0	3940	652	23	5	411	5	CRYGD	2	208988967	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	40888819	208988967	34210406	29	2898											
USP37	57695	broad.mit.edu	37	chr2	219414540	219414540	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatgaacatacctgattgtCtgagtaagaaagctgcctgc	9	8	1	4			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:219414540C>A	ENST00000258399.3	-	6	833	c.421G>T	c.(421-423)Gac>Tac	p.D141Y	USP37_ENST00000415516.1_Missense_Mutation_p.D69Y|USP37_ENST00000418019.1_Missense_Mutation_p.D141Y|USP37_ENST00000338465.5_Missense_Mutation_p.D141Y|USP37_ENST00000454775.1_Missense_Mutation_p.D141Y	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	141					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACCTGATTGTCTGAGTAAGAA	0.488													False	0	False	2:219414540	0	A	219414540	C	A	219414540	3	1	36	1	0	0	0	0	1	0	0	0	17152	913	32	3	2602	3	USP37	2	219414540	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	10425573	219414540	23784833	30	2899											
SP140	11262	broad.mit.edu	37	chr2	231174695	231174695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggggagctgttctgttgCgacacttgttcaagagtctt	14	7	3	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:231174695C>T	ENST00000392045.3	+	23	2229	c.2115C>T	c.(2113-2115)tgC>tgT	p.C705C	SP140_ENST00000486687.2_Silent_p.C629C|SP140_ENST00000417495.3_Silent_p.C591C|SP140_ENST00000343805.6_Silent_p.C645C|SP140_ENST00000420434.3_Silent_p.C678C|SP140_ENST00000350136.5_Silent_p.C574C	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	705					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C705C(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGTTCTGTTGCGACACTTGTT	0.512													False	0	False	2:231174695	0	T	231174695	C	T	231174695	2	4	36	1	0	0	0	0	0	0	0	1	15042	776	27	1		1	SP140	2	231174695	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	11760155	231174695	12024678	31	2900											
KBTBD8	84541	broad.mit.edu	37	chr3	67054666	67054666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgttggacgactgtttgCgcgatgccagttgcaatgga	13	7	0	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:67054666C>T	ENST00000295568.4	+	3	1328	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C	KBTBD8_ENST00000417314.2_Silent_p.C425C|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	425										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413													False	0	False	3:67054666	0	T	67054666	C	T	67054666	2	4	36	1	0	0	0	0	0	0	0	1	8049	776	27	1		1	KBTBD8	3	67054666	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		67054666	130967764	32	2901											
ROBO1	6091	broad.mit.edu	37	chr3	78666996	78666996	+	Silent	SNP	G	G	A													ctctccaggtccccaacactGgaggcaggtgtctgctcaag							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:78666996G>A	ENST00000436010.2	-	25	4951	c.3954C>T	c.(3952-3954)tcC>tcT	p.S1318S	ROBO1_ENST00000464233.1_Silent_p.S1357S|ROBO1_ENST00000495273.1_Silent_p.S1312S|ROBO1_ENST00000467549.1_Silent_p.S1257S			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1357					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCCCAACACTGGAGGCAGGTG	0.572													False	0	False	3:78666996	0	A	78666996	G	A	78666996	2	1	36	1	0	0	0	0	0	0	0	1	13592	1335	47	2		2	ROBO1	3	78666996	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	11612330	78666996	119355434	33	2902	30	2									
ROBO1	6091	broad.mit.edu	37	chr3	78666997	78666997	+	Missense_Mutation	SNP	G	G	T													tctccaggtccccaacactgGaggcaggtgtctgctcaagc							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:78666997G>T	ENST00000436010.2	-	25	4950	c.3953C>A	c.(3952-3954)tCc>tAc	p.S1318Y	ROBO1_ENST00000464233.1_Missense_Mutation_p.S1357Y|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1312Y|ROBO1_ENST00000467549.1_Missense_Mutation_p.S1257Y			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1357					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCCAACACTGGAGGCAGGTGT	0.572													False	0	False	3:78666997	0	T	78666997	G	T	78666997	3	4	36	1	0	0	0	0	1	0	0	0	13592	1174	41	3	905	3	ROBO1	3	78666997	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	1	78666997	119355433	34	2903	30	2									
HCLS1	3059	broad.mit.edu	37	chr3	121354642	121354642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctccatttcattgaagcCgacagcgctctgcaggcagg	12	13	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:121354642C>T	ENST00000314583.3	-	9	722	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.G174S	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	211					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCATTGAAGCCGACAGCGCTC	0.557													False	0	False	3:121354642	0	T	121354642	C	T	121354642	3	4	36	1	0	0	0	0	1	0	0	0	7042	652	23	1	853	1	HCLS1	3	121354642	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	42687645	121354642	76667788	35	2904											
CD86	942	broad.mit.edu	37	chr3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattccaagtatatgggccGcacaagttttgattcggaca	9	9	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.R79H	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TATATGGGCCGCACAAGTTTT	0.423													False	0	False	3:121822548	0	A	121822548	G	A	121822548	3	1	36	1	0	0	0	0	1	0	0	0	3066	1087	38	1	264	1	CD86	3	121822548	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	467906	121822548	76199882	36	2905											
ADCY5	111	broad.mit.edu	37	chr3	123046467	123046467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccagcccacagacccGcttctgggtgcagcgcagga	13	17	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:123046467G>A	ENST00000462833.1	-	7	3157	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	ADCY5_ENST00000491190.1_Missense_Mutation_p.R282W|ADCY5_ENST00000309879.5_Missense_Mutation_p.R299W	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	649					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCACAGACCCGCTTCTGGGTG	0.627													False	0	True	3:123046467	0	A	123046467	G	A	123046467	3	1	36	1	0	0	0	0	1	0	0	0	297	1086	38	1	1900	1	ADCY5	3	123046467	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	1223919	123046467	74975963	37	2906											
MYLK	4638	broad.mit.edu	37	chr3	123419230	123419230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtctcagcaggcttggCgttgcccacgggtttcaagg	15	11	2	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:123419230C>T	ENST00000360772.3	-	19	3463	c.3085G>A	c.(3085-3087)Gcc>Acc	p.A1029T	MYLK_ENST00000346322.5_Missense_Mutation_p.A960T|MYLK_ENST00000475616.1_Missense_Mutation_p.A1029T|MYLK_ENST00000360304.3_Missense_Mutation_p.A1029T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1029T			Q15746	MYLK_HUMAN	myosin light chain kinase	1029	6 X 12 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCAGGCTTGGCGTTGCCCACG	0.607													False	0	False	3:123419230	0	T	123419230	C	T	123419230	3	4	36	1	0	0	0	0	1	0	0	0	10123	768	27	1	2727	1	MYLK	3	123419230	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	372763	123419230	74603200	38	2907											
SRPRB	58477	broad.mit.edu	37	chr3	133535748	133535748	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatggcaaaatcagcaaagTtaattcaacagcagctggag	9	8	2	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:133535748T>G	ENST00000466490.2	+	7	859	c.574T>G	c.(574-576)Tta>Gta	p.L192V		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	192						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						ATCAGCAAAGTTAATTCAACA	0.348													False	0	False	3:133535748	0	G	133535748	T	G	133535748	3	3	36	1	0	0	0	0	1	0	0	0	15245	1722	60	4	596	4	SRPRB	3	133535748	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	10116518	133535748	64486682	39	2908											
P2RY1	5028	broad.mit.edu	37	chr3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaatgacagggtttatgCcacgtatcaggtgacaagag	11	7	2	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478													False	0	False	3:152554482	0	T	152554482	C	T	152554482	3	4	36	1	0	0	0	0	1	0	0	0	11414	739	26	2	913	2	P2RY1	3	152554482	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	19018734	152554482	45467948	40	2909											
RARRES1	0	broad.mit.edu	37	chr3	158428704	158428735	+	Splice_Site	DEL	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	-													acatttccccaaacgtccctCaccttcctgaagtaaagact							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	-	-	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:158428704_158428735delCACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	ENST00000237696.5	-	3	620_638	c.340_358delTTTAACTCCACAGTCTTTACTTCAGGAAGGTG	c.(340-360)tttaactccacagtctttact>ct	p.FNSTVFT114fs	RARRES1_ENST00000498640.1_Intron|RARRES1_ENST00000479756.1_Splice_Site_p.FNSTVFT114fs	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	114					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	AAACGTCCCTCACCTTCCTGAAGTAAAGACTGTGGAGTTAAACAGGATACTT	0.453													False	1	True	3:158428704	0	-	158428735	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	-	158428704	8	5	36	1	0	1	0	1	0	0	1	0	13134	835	29	0	557	0	RARRES1	3	158428704	Splice_Site	DEL	CACCTTCCTGAAGTAAAGACTGTGGAGTTAAA	TCGA-F2-A8YN-01A-11D-A377-08	5874222	158428704	39593726	41	2910											
SST	6750	broad.mit.edu	37	chr3	187387014	187387014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggttccagggcatcattctCcgtctggttgggttcagaca	12	10	4	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:187387014C>T	ENST00000287641.3	-	2	297	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	64					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	GCATCATTCTCCGTCTGGTTG	0.522													False	0	False	3:187387014	0	T	187387014	C	T	187387014	3	4	36	1	0	0	0	0	1	0	0	0	15278	864	30	2	164	2	SST	3	187387014	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	28958310	187387014	10635416	42	2911											
ALB	213	broad.mit.edu	37	chr4	74275113	74275113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacatccttacttttatgCcccggaactccttttctttg	5	12	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr4:74275113C>T	ENST00000295897.4	+	5	613	c.524C>T	c.(523-525)gCc>gTc	p.A175V	ALB_ENST00000509063.1_Missense_Mutation_p.A175V|ALB_ENST00000401494.3_Missense_Mutation_p.A60V|ALB_ENST00000415165.2_Intron|ALB_ENST00000503124.1_Missense_Mutation_p.A25V|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	175	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TACTTTTATGCCCCGGAACTC	0.353													False	0	True	4:74275113	0	T	74275113	C	T	74275113	3	4	36	1	0	0	0	0	1	0	0	0	486	739	26	2	542	2	ALB	4	74275113	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		74275113	116879163	43	2912											
SORBS2	8470	broad.mit.edu	37	chr4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggatgctgttgtccgGcaagctcccccttttctttt	10	12	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr4:186544317G>A	ENST00000431808.1	-	14	2817	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522													False	0	False	4:186544317	0	A	186544317	G	A	186544317	3	1	36	1	0	0	0	0	1	0	0	0	15008	1203	42	2	1084	2	SORBS2	4	186544317	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	112269204	186544317	4609959	44	2913											
C9	735	broad.mit.edu	37	chr5	39331865	39331865	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggttacagagtccattgtaGaactcattgtcaaaaggtgt	10	7	2	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:39331865G>C	ENST00000263408.4	-	5	623	c.528C>G	c.(526-528)ttC>ttG	p.F176L	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	176	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GTCCATTGTAGAACTCATTGT	0.438													False	0	False	5:39331865	0	C	39331865	G	C	39331865	3	2	36	1	0	0	0	0	1	0	0	0	2463	933	33	5	1179	5	C9	5	39331865	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		39331865	141583395	45	2914											
PCSK1	5122	broad.mit.edu	37	chr5	95765020	95765021	+	Splice_Site	INS	-	-	TAC													gtgattttcaagtgaaccaaINStctataaaaggaaagaaata							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:95765020_95765021insTAC	ENST00000311106.3	-	2	418_419	c.181_182insGTA	c.(181-183)att>aGTAtt	p.60_61insS	PCSK1_ENST00000508626.1_Splice_Site_p.13_14insS|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	60					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGTGAACCAATCTATAAAAGG	0.322													False	0	False	5:95765020	0	TAC	95765021	-	TAC	95765020	8	5	36	1	0	1	1	0	0	0	1	0	11668	115	4	0	2131	0	PCSK1	5	95765020	Splice_Site	INS	-	TCGA-F2-A8YN-01A-11D-A377-08	56433155	95765020	85150240	46	2915											
SNCAIP	9627	broad.mit.edu	37	chr5	121776408	121776408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggatggcaacagtgccGttcacgtagcctcacagcat	10	13	2	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:121776408G>A	ENST00000261367.7	+	9	2950	c.1522G>A	c.(1522-1524)Gtt>Att	p.V508I	CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.V63I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V508I|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.V95I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V401I|SNCAIP_ENST00000503116.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.V461I|SNCAIP_ENST00000542191.1_Missense_Mutation_p.V19I|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	461					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAACAGTGCCGTTCACGTAGC	0.428													False	0	False	5:121776408	0	A	121776408	G	A	121776408	3	1	36	1	0	0	0	0	1	0	0	0	14921	1145	40	1	1403	1	SNCAIP	5	121776408	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	26011388	121776408	59138852	47	2916											
PCDHB6	0	broad.mit.edu	37	chr5	140530477	140530477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggctaacgctgatcgcGctggatggcgggtctccgcc	14	14	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:140530477G>A	ENST00000231136.1	+	1	639	c.639G>A	c.(637-639)gcG>gcA	p.A213A	PCDHB6_ENST00000543635.1_Silent_p.A77A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		213	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGATCGCGCTGGATGGCG	0.602													False	0	False	5:140530477	0	A	140530477	G	A	140530477	2	1	36	1	0	0	0	0	0	0	0	1	11614	1074	38	1		1	PCDHB6	5	140530477	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	18754069	140530477	40384783	48	2917											
PCDHGA10	0	broad.mit.edu	37	chr5	140795043	140795043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctctcaccgcggactcGcgaaagagtcacctgatctt	9	14	4	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:140795043G>A	ENST00000398610.2	+	1	2301	c.2301G>A	c.(2299-2301)tcG>tcA	p.S767S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGGACTCGCGAAAGAGTC	0.562													False	0	False	5:140795043	0	A	140795043	G	A	140795043	2	1	36	1	0	0	0	0	0	0	0	1	11619	1074	38	1		1	PCDHGA10	5	140795043	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	264566	140795043	40120217	49	2918											
RMND5B	64777	broad.mit.edu	37	chr5	177574596	177574596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggctgtgattgagcagcGgcagtgcactggggtctgga	17	8	1	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:177574596G>A	ENST00000515098.1	+	10	1274	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	RMND5B_ENST00000313386.4_Missense_Mutation_p.R308Q|RMND5B_ENST00000542098.1_Missense_Mutation_p.R295Q			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	308										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTGAGCAGCGGCAGTGCACT	0.577													False	0	False	5:177574596	0	A	177574596	G	A	177574596	3	1	36	1	0	0	0	0	1	0	0	0	13477	1116	39	1	949	1	RMND5B	5	177574596	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	36779553	177574596	3340664	50	2919											
BTN2A2	10385	broad.mit.edu	37	chr6	26390289	26390289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctagctgtcatcctgaccGcatctccctggatggtgtcc	9	16	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:26390289G>A	ENST00000356709.4	+	5	892	c.781G>A	c.(781-783)Gca>Aca	p.A261T	BTN2A2_ENST00000432533.2_Missense_Mutation_p.A167T|BTN2A2_ENST00000482536.1_Missense_Mutation_p.A51T|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A261T|BTN2A2_ENST00000352867.2_Missense_Mutation_p.A145T|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A261T	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	261					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CATCCTGACCGCATCTCCCTG	0.463													False	0	False	6:26390289	0	A	26390289	G	A	26390289	3	1	36	1	0	0	0	0	1	0	0	0	1568	1087	38	1	795	1	BTN2A2	6	26390289	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		26390289	144724778	51	2920											
CFB	629	broad.mit.edu	37	chr6	31917095	31917095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatacattggcaaggatcGcaaaaacccaagggaggatt	11	8	0	0	rs150398964		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:31917095G>A	ENST00000456570.1	+	21	2805	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	CFB_ENST00000477310.1_Missense_Mutation_p.R766H|CFB_ENST00000425368.2_Missense_Mutation_p.R415H|CFB_ENST00000556679.1_Missense_Mutation_p.R917H|CFB_ENST00000497841.1_3'UTR			P00751	CFAB_HUMAN	complement factor B	415					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.R415H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCAAGGATCGCAAAAACCCA	0.522													False	0	False	6:31917095	0	A	31917095	G	A	31917095	3	1	36	1	0	0	0	0	1	0	0	0	3301	1087	38	1	1278	1	CFB	6	31917095	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	5526806	31917095	139197972	52	2921											
TNXB	7148	broad.mit.edu	37	chr6	32017099	32017099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcccctcgtggaggccGtacagatgcatcttgtattt	11	12	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:32017099G>A	ENST00000375244.3	-	28	9906	c.9705C>T	c.(9703-9705)taC>taT	p.Y3235Y	TNXB_ENST00000375247.2_Silent_p.Y3233Y			P22105	TENX_HUMAN	tenascin XB	3280	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGTGGAGGCCGTACAGATGCA	0.697													False	0	False	6:32017099	0	A	32017099	G	A	32017099	2	1	36	1	0	0	0	0	0	0	0	1	16428	1140	40	1		1	TNXB	6	32017099	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	100004	32017099	139097968	53	2922											
PACSIN1	0	broad.mit.edu	37	chr6	34499564	34499564	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagctcagctttaaggccGgtaggacggctgggcggggc	18	10	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:34499564G>A	ENST00000538621.1	+	9	1470	c.1225_splice	c.e9+1	p.G409_splice	PACSIN1_ENST00000374043.2_Splice_Site_p.G367_splice|PACSIN1_ENST00000244458.2_Splice_Site_p.G409_splice	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	409	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTTTAAGGCCGGTAGGACGGC	0.657													False	0	False	6:34499564	0	A	34499564	G	A	34499564	5	1	36	1	0	0	0	0	0	0	1	0	11442	1130	39	1	1255	1	PACSIN1	6	34499564	Splice_Site	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2482465	34499564	136615503	54	2923											
FUT9	10690	broad.mit.edu	37	chr6	96651947	96651947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaagtatctgaaggaagtcGacaaaaacaataagttatac	7	6	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:96651947G>A	ENST00000302103.5	+	3	1242	c.916G>A	c.(916-918)Gac>Aac	p.D306N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	306					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GAAGGAAGTCGACAAAAACAA	0.368													False	0	False	6:96651947	0	A	96651947	G	A	96651947	3	1	36	1	0	0	0	0	1	0	0	0	6153	1058	37	1	918	1	FUT9	6	96651947	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	62152383	96651947	74463120	55	2924											
CD164	8763	broad.mit.edu	37	chr6	109690132	109690132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcctgcacacccaagacCaggacaattcctccaatgaa	6	15	0	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:109690132C>T	ENST00000368961.5	-	4	600	c.420G>A	c.(418-420)ctG>ctA	p.L140L	CD164_ENST00000506649.1_5'UTR|CD164_ENST00000504373.1_Silent_p.L138L|CD164_ENST00000413644.2_Silent_p.L172L|CD164_ENST00000512821.1_Intron|CD164_ENST00000310786.4_Silent_p.L172L|CD164_ENST00000275080.7_Silent_p.L159L|CD164_ENST00000324953.5_Silent_p.L153L			Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	172	Thr-rich.				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		CACCCAAGACCAGGACAATTC	0.388													False	0	False	6:109690132	0	T	109690132	C	T	109690132	2	4	36	1	0	0	0	0	0	0	0	1	2992	581	21	2		2	CD164	6	109690132	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	13038185	109690132	61424935	56	2925											
LAMA4	3910	broad.mit.edu	37	chr6	112460431	112460431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgatgtctctcaccacgGcataaccggagccatcgaag	10	12	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:112460431G>A	ENST00000230538.7	-	24	3570	c.3173C>T	c.(3172-3174)gCc>gTc	p.A1058V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A1051V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1051V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1051V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1058	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTCACCACGGCATAACCGGA	0.488													False	0	False	6:112460431	0	A	112460431	G	A	112460431	3	1	36	1	0	0	0	0	1	0	0	0	8659	1203	42	2	2362	2	LAMA4	6	112460431	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2770299	112460431	58654636	57	2926											
OLIG3	167826	broad.mit.edu	37	chr6	137815036	137815036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcatccgcttgcgttcgCgtccgttgatcttcagcctc	10	15	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:137815036C>T	ENST00000367734.2	-	1	495	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CTTGCGTTCGCGTCCGTTGAT	0.617													False	0	False	6:137815036	0	T	137815036	C	T	137815036	3	4	36	1	0	0	0	0	1	0	0	0	10930	768	27	1	550	1	OLIG3	6	137815036	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	25354605	137815036	33300031	58	2927											
STX11	8676	broad.mit.edu	37	chr6	144507954	144507954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggtggccgacgtgaagCggctgggaaagcagaacgcc	17	10	0	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:144507954C>T	ENST00000367568.4	+	2	373	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	64					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CGACGTGAAGCGGCTGGGAAA	0.622									Familial Hemophagocytic Lymphohistiocytosis				False	0	False	6:144507954	0	T	144507954	C	T	144507954	3	4	36	1	0	0	0	0	1	0	0	0	15419	759	27	1	192	1	STX11	6	144507954	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	6692918	144507954	26607113	59	2928											
HOXA9	3205	broad.mit.edu	37	chr7	27203297	27203297	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaaccagatcttgacctgCctctcggtgaggttgagcag	13	10	2	4			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:27203297C>G	ENST00000343483.6	-	2	816	c.744G>C	c.(742-744)agG>agC	p.R248S	RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.R88S|HOXA9_ENST00000396345.1_3'UTR|HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000465941.1_5'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	248							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TCTTGACCTGCCTCTCGGTGA	0.483			T	"NUP98, MSI2"	AML*								False	0	False	7:27203297	0	G	27203297	C	G	27203297	3	3	36	1	0	0	0	0	1	0	0	0	7345	738	26	5	78	5	HOXA9	7	27203297	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		27203297	131935366	60	2929											
PDE1C	5137	broad.mit.edu	37	chr7	32109952	32109952	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgatctgttccggttgcagGtatttcagagagttgctctc	11	9	3	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:32109952G>T	ENST00000396184.3	-	2	258	c.54C>A	c.(52-54)taC>taA	p.Y18*	PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.Y18*	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	18					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCGGTTGCAGGTATTTCAGAG	0.502													False	0	False	7:32109952	0	T	32109952	G	T	32109952	4	4	36	1	0	0	0	0	0	1	0	0	11703	1256	44	3	1918	3	PDE1C	7	32109952	Nonsense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	4906655	32109952	127028711	61	2930											
SFRP4	6424	broad.mit.edu	37	chr7	37956044	37956044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttccagggcatgtgccgGcacatagggatgcgcaccgc	14	12	0	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:37956044G>A	ENST00000436072.2	-	1	473	c.96C>T	c.(94-96)tgC>tgT	p.C32C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	32	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCATGTGCCGGCACATAGGGA	0.672													False	0	False	7:37956044	0	A	37956044	G	A	37956044	2	1	36	1	0	0	0	0	0	0	0	1	14244	1195	42	2		2	SFRP4	7	37956044	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	5846092	37956044	121182619	62	2931											
STARD3NL	0	broad.mit.edu	37	chr7	38256892	38256892	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaagtgttacctcaagaagCagaagaagaaaacagtaagt	9	6	1	4			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:38256892C>G	ENST00000009041.7	+	6	796	c.539C>G	c.(538-540)gCa>gGa	p.A180G	STARD3NL_ENST00000544203.1_Missense_Mutation_p.A173G|STARD3NL_ENST00000396013.1_Missense_Mutation_p.A180G|STARD3NL_ENST00000434197.1_Missense_Mutation_p.A162G	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	180	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CCTCAAGAAGCAGAAGAAGAA	0.483													False	0	True	7:38256892	0	G	38256892	C	G	38256892	3	3	36	1	0	0	0	0	1	0	0	0	15340	710	25	5	557	5	STARD3NL	7	38256892	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	300848	38256892	120881771	63	2932											
FKBP6	8468	broad.mit.edu	37	chr7	72754662	72754662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgttgcttctgcgccggcGatcagcaccccctgaagagc	11	16	2	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:72754662G>A	ENST00000252037.4	+	6	680	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	FKBP6_ENST00000413573.2_Missense_Mutation_p.R174Q|FKBP6_ENST00000431982.2_Missense_Mutation_p.R199Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	204					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGCGCCGGCGATCAGCACCC	0.537													False	0	False	7:72754662	0	A	72754662	G	A	72754662	3	1	36	1	0	0	0	0	1	0	0	0	5952	1058	37	1	679	1	FKBP6	7	72754662	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	34497770	72754662	86384001	64	2933											
CHD7	55636	broad.mit.edu	37	chr8	61769311	61769311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccaagcaggcctttcgcGcacacccacaaggcatctcc	8	18	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:61769311G>A	ENST00000423902.2	+	34	7951	c.7472G>A	c.(7471-7473)cGc>cAc	p.R2491H	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2491					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGCCTTTCGCGCACACCCACA	0.488													False	0	False	8:61769311	0	A	61769311	G	A	61769311	3	1	36	1	0	0	0	0	1	0	0	0	3353	1087	38	1	7602	1	CHD7	8	61769311	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		61769311	84594711	65	2934											
CSPP1	79848	broad.mit.edu	37	chr8	68015300	68015300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacaaacgagggaatatgCctcctatggaacatgatggg	13	7	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:68015300C>T	ENST00000262210.5	+	7	1010	c.979C>T	c.(979-981)Cct>Tct	p.P327S	CSPP1_ENST00000412460.1_Missense_Mutation_p.P33S	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	362						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGGGAATATGCCTCCTATGGA	0.348													False	0	False	8:68015300	0	T	68015300	C	T	68015300	3	4	36	1	0	0	0	0	1	0	0	0	3987	739	26	2	1118	2	CSPP1	8	68015300	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	6245989	68015300	78348722	66	2935											
PABPC1	26986	broad.mit.edu	37	chr8	101719035	101719036	+	Splice_Site	DEL	TA	TA	-													gtctgtgttgatgtgttagcTaaaaaataagaacattttgt							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:101719035_101719036delTA	ENST00000318607.5	-	11	2576		c.e11-2		PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000522387.1_Splice_Site|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATGTGTTAGCTAAAAAATAAGA	0.426													False	1	True	8:101719035	0	-	101719036	TA	-	101719035	8	5	36	1	0	1	0	1	0	0	1	0	11431	1536	53	0	480	0	PABPC1	8	101719035	Splice_Site	DEL	TA	TCGA-F2-A8YN-01A-11D-A377-08	33703735	101719035	44644987	67	2936											
BAI1	575	broad.mit.edu	37	chr8	143569790	143569790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttccccatgaagggctggCgggccacgggtgactgggcc	17	13	0	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:143569790C>T	ENST00000517894.1	+	14	3268	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	BAI1_ENST00000323289.5_Missense_Mutation_p.R792W			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	792					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAGGGCTGGCGGGCCACGGG	0.632													False	0	True	8:143569790	0	T	143569790	C	T	143569790	3	4	36	1	0	0	0	0	1	0	0	0	1302	759	27	1	2424	1	BAI1	8	143569790	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	41850755	143569790	2794232	68	2937											
PTCH1	5727	broad.mit.edu	37	chr9	98244279	98244279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgccccttcccagaagcagTccaaaggtgtaataatcaaa	7	12	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr9:98244279T>C	ENST00000430669.2	-	5	1085	c.500A>G	c.(499-501)gAc>gGc	p.D167G	PTCH1_ENST00000331920.6_Missense_Mutation_p.D233G|PTCH1_ENST00000421141.1_Missense_Mutation_p.D82G|PTCH1_ENST00000437951.1_Missense_Mutation_p.D167G|PTCH1_ENST00000429896.2_Missense_Mutation_p.D82G|PTCH1_ENST00000375274.2_Missense_Mutation_p.D232G|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000418258.1_Missense_Mutation_p.D82G|PTCH1_ENST00000468211.2_Missense_Mutation_p.D167G			Q13635	PTC1_HUMAN	patched 1	233					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCAGAAGCAGTCCAAAGGTGT	0.433													False	0	False	9:98244279	0	C	98244279	T	C	98244279	3	2	36	1	0	0	0	0	1	0	0	0	12806	1667	58	4	3721	4	PTCH1	9	98244279	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08		98244279	42969152	69	2938											
SUSD1	64420	broad.mit.edu	37	chr9	114904607	114904607	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaactcaccttggcaAtgtaattttggggactccca	8	9	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr9:114904607A>G	ENST00000374270.3	-	5	871	c.699T>C	c.(697-699)caT>caC	p.H233H	SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Silent_p.H233H|SUSD1_ENST00000374264.2_Silent_p.H233H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	233	Sushi 1.					integral to membrane	calcium ion binding	p.H233H(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CACCTTGGCAATGTAATTTTG	0.408													False	0	False	9:114904607	0	G	114904607	A	G	114904607	2	3	36	1	0	0	0	0	0	0	0	1	15489	98	4	4		4	SUSD1	9	114904607	Silent	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	16660328	114904607	26308824	70	2939											
GPAM	57678	broad.mit.edu	37	chr10	113932067	113932067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggtagaaacagaagcgGcaaattcgtctagcaaaggg	12	7	1	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:113932067G>A	ENST00000348367.4	-	9	864	c.667C>T	c.(667-669)Ccg>Tcg	p.P223S	GPAM_ENST00000369425.1_Missense_Mutation_p.P223S|GPAM_ENST00000423155.1_Missense_Mutation_p.P223S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	223					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AACAGAAGCGGCAAATTCGTC	0.383													False	0	False	10:113932067	0	A	113932067	G	A	113932067	3	1	36	1	0	0	0	0	1	0	0	0	6634	1203	42	2	1875	2	GPAM	10	113932067	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		113932067	21602680	71	2940											
CHST15	51363	broad.mit.edu	37	chr10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcttcccctttttgaagcGcaaaaacccaccccagtttt	5	15	0	1	rs145631200		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	73					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTTGAAGCGCAAAAACCCA	0.453													False	0	False	10:125805512	0	A	125805512	G	A	125805512	3	1	36	1	0	0	0	0	1	0	0	0	3426	1087	38	1	1496	1	CHST15	10	125805512	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	11873445	125805512	9729235	72	2941											
GPR123	84435	broad.mit.edu	37	chr10	134884542	134884542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacactgccgagggggccGgacaccacagtcaccagaca	12	15	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:134884542G>A	ENST00000607359.1	+	1	110	c.110G>A	c.(109-111)cGg>cAg	p.R37Q				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGAGGGGGCCGGACACCACAG	0.657													False	0	False	10:134884542	0	A	134884542	G	A	134884542	3	1	36	1	0	0	0	0	1	0	0	0	6683	1131	39	1		1	GPR123	10	134884542	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	9079030	134884542	650205	73	2942											
MUC5B	727897	broad.mit.edu	37	chr11	1264911	1264911	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaccgagtcacccccttcTccagggacgaccaccccggg	9	20	2	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:1264911T>C	ENST00000447027.1	+	31	6868	c.6810T>C	c.(6808-6810)tcT>tcC	p.S2270S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.S2267S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2267	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.S2267S(1)|p.S2270S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCCCTTCTCCAGGGACGA	0.677													False	0	False	11:1264911	0	C	1264911	T	C	1264911	2	2	36	1	0	0	0	0	0	0	0	1	10046	1538	54	4		4	MUC5B	11	1264911	Silent	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08		1264911	133741605	74	2943											
OR52I1	390037	broad.mit.edu	37	chr11	4615445	4615445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggatggattccactcgGcatgagcccatgtattgctt	10	10	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:4615445G>A	ENST00000450052.2	+	2	249	c.249G>A	c.(247-249)cgG>cgA	p.R83R	OR52I1_ENST00000530443.2_Silent_p.R59R			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCCACTCGGCATGAGCCCA	0.517													False	0	False	11:4615445	0	A	4615445	G	A	4615445	2	1	36	1	0	0	0	0	0	0	0	1	11188	1190	42	2		2	OR52I1	11	4615445	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	3350534	4615445	130391071	75	2944											
SYT9	143425	broad.mit.edu	37	chr11	7437383	7437383	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaggcaatggacataacAggagcatcaggtggggcatt	13	6	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:7437383A>G	ENST00000318881.6	+	4	1392	c.1155A>G	c.(1153-1155)acA>acG	p.T385T		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	385	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGGACATAACAGGAGCATCAG	0.408													False	0	False	11:7437383	0	G	7437383	A	G	7437383	2	3	36	1	0	0	0	0	0	0	0	1	15563	175	7	4		4	SYT9	11	7437383	Silent	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	2821938	7437383	127569133	76	2945											
DENND5A	23258	broad.mit.edu	37	chr11	9187392	9187392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagcttaccttattgcgGcattccttcagcaggccctc	7	16	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:9187392G>A	ENST00000328194.3	-	11	2594	c.2274C>T	c.(2272-2274)tgC>tgT	p.C758C	DENND5A_ENST00000527700.1_Silent_p.C101C|DENND5A_ENST00000530044.1_Silent_p.C758C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	758										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTATTGCGGCATTCCTTCA	0.498													False	0	False	11:9187392	0	A	9187392	G	A	9187392	2	1	36	1	0	0	0	0	0	0	0	1	4466	1195	42	2		2	DENND5A	11	9187392	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	1750009	9187392	125819124	77	2946											
LGR4	55366	broad.mit.edu	37	chr11	27389696	27389696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaacgattcgcagcagtcGcaaacagtcaggttgccctg	11	11	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:27389696G>A	ENST00000379214.4	-	18	3017	c.2574C>T	c.(2572-2574)tgC>tgT	p.C858C	LGR4_ENST00000389858.4_Silent_p.C834C	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	858						integral to membrane|plasma membrane	protein-hormone receptor activity	p.C858C(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CGCAGCAGTCGCAAACAGTCA	0.458													False	0	False	11:27389696	0	A	27389696	G	A	27389696	2	1	36	1	0	0	0	0	0	0	0	1	8808	1079	38	1		1	LGR4	11	27389696	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	18202304	27389696	107616820	78	2947											
OR5L1	219437	broad.mit.edu	37	chr11	55579771	55579771	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaaagtggccaccgtgTtctacacagtcgtgattcct	9	12	1	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:55579771T>A	ENST00000333973.2	+	1	918	c.829T>A	c.(829-831)Ttc>Atc	p.F277I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGCCACCGTGTTCTACACAGT	0.458													False	0	False	11:55579771	0	A	55579771	T	A	55579771	3	1	36	1	0	0	0	0	1	0	0	0	11238	1725	60	5	831	5	OR5L1	11	55579771	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	28190075	55579771	79426745	79	2948											
SLC22A10	387775	broad.mit.edu	37	chr11	63057849	63057849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaatcctcagtgaagatgCcctcttgagaatctctatcc	8	11	3	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:63057849C>T	ENST00000332793.6	+	1	214	c.212C>T	c.(211-213)gCc>gTc	p.A71V	SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.A19V|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	71						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTGAAGATGCCCTCTTGAGA	0.493													False	0	True	11:63057849	0	T	63057849	C	T	63057849	3	4	36	1	0	0	0	0	1	0	0	0	14522	739	26	2	214	2	SLC22A10	11	63057849	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	7478078	63057849	71948667	80	2949											
GPR137	56834	broad.mit.edu	37	chr11	64054047	64054047	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctgccgggctggtgcctgcGctgccacctgctgtgaccct	14	16	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:64054047G>C	ENST00000539851.1	+	2	518	c.51G>C	c.(49-51)gcG>gcC	p.A17A	GPR137_ENST00000313074.3_Silent_p.A17A|GPR137_ENST00000411458.1_Silent_p.A75A|GPR137_ENST00000438980.2_Silent_p.A17A|GPR137_ENST00000377702.4_Silent_p.A17A	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	17						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGGTGCCTGCGCTGCCACCTG	0.632													False	0	False	11:64054047	0	C	64054047	G	C	64054047	2	2	36	1	0	0	0	0	0	0	0	1	6691	1074	38	5		5	GPR137	11	64054047	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	996198	64054047	70952469	81	2950											
FAT3	120114	broad.mit.edu	37	chr11	92577374	92577374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggaggcctggacagcgGcaagtatgtcctgaatgtgt	15	9	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:92577374G>A	ENST00000298047.6	+	18	10858	c.10841G>A	c.(10840-10842)gGc>gAc	p.G3614D	FAT3_ENST00000525166.1_Missense_Mutation_p.G3464D|FAT3_ENST00000409404.2_Missense_Mutation_p.G3614D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3614	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGGACAGCGGCAAGTATGTC	0.498										TCGA Ovarian(4;0.039)			False	0	False	11:92577374	0	A	92577374	G	A	92577374	3	1	36	1	0	0	0	0	1	0	0	0	5731	1203	42	2	10911	2	FAT3	11	92577374	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	28523327	92577374	42429142	82	2951											
TMEM45B	120224	broad.mit.edu	37	chr11	129722430	129722430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttcttcctgatcattgGgctgtgttggtcagtgaagt	13	6	3	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:129722430G>A	ENST00000281441.3	+	2	141	c.53G>A	c.(52-54)gGg>gAg	p.G18E	TMEM45B_ENST00000524567.1_Missense_Mutation_p.G18E	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	18						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTGATCATTGGGCTGTGTTGG	0.507													False	0	True	11:129722430	0	A	129722430	G	A	129722430	3	1	36	1	0	0	0	0	1	0	0	0	16252	1232	43	2	55	2	TMEM45B	11	129722430	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	37145056	129722430	5284086	83	2952											
TAS2R8	50836	broad.mit.edu	37	chr12	10959184	10959184	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaaagcatcccagcaggatCcagtgcaccaccatatcaat	7	14	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:10959184C>T	ENST00000240615.2	-	1	708	c.396G>A	c.(394-396)tgG>tgA	p.W132*		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	132					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCAGCAGGATCCAGTGCACCA	0.413													False	0	False	12:10959184	0	T	10959184	C	T	10959184	4	4	36	1	0	0	0	0	0	1	0	0	15669	856	30	2	536	2	TAS2R8	12	10959184	Nonsense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		10959184	122892711	84	2953											
GRIN2B	2904	broad.mit.edu	37	chr12	13716777	13716777	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcggaactggtccaggtagAagtcccgtagcccttccttg	11	12	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:13716777A>T	ENST00000279593.3	-	13	3604	c.3395T>A	c.(3394-3396)tTc>tAc	p.F1132Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1132					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCAGGTAGAAGTCCCGTAG	0.597													False	0	False	12:13716777	0	T	13716777	A	T	13716777	3	4	36	1	0	0	0	0	1	0	0	0	6827	246	9	5	1063	5	GRIN2B	12	13716777	Missense_Mutation	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	2757593	13716777	120135118	85	2954											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	36	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	11681508	25398285	108453610	86	2955											
ITPR2	3709	broad.mit.edu	37	chr12	26816711	26816712	+	Frame_Shift_Del	DEL	AT	AT	-													gcatatctttgatcccccagAtcttcaagtctcagcatcga							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:26816711_26816712delAT	ENST00000381340.3	-	15	2035_2036	c.1619_1620delAT	c.(1618-1620)gatfs	p.D540fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	540					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GATCCCCCAGATCTTCAAGTCT	0.46													False	1	False	12:26816711	0	-	26816712	AT	-	26816711	7	5	36	1	0	1	0	1	0	0	0	0	7971	330	12	0	6657	0	ITPR2	12	26816711	Frame_Shift_Del	DEL	AT	TCGA-F2-A8YN-01A-11D-A377-08	1418426	26816711	107035184	87	2956											
STAB2	55576	broad.mit.edu	37	chr12	103988268	103988268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcggtgttgtcctggccGctggggcccagactgtatag	14	12	0	1	rs151009841	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:103988268G>A	ENST00000388887.2	+	3	515	c.311G>A	c.(310-312)cGc>cAc	p.R104H		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	104					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTCCTGGCCGCTGGGGCCCA	0.493													False	0	False	12:103988268	0	A	103988268	G	A	103988268	3	1	36	1	0	0	0	0	1	0	0	0	15320	1087	38	1	321	1	STAB2	12	103988268	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	77171557	103988268	29863627	88	2957											
ALDH1L2	160428	broad.mit.edu	37	chr12	105464556	105464556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaggaagcttgaacacagGggtcccatctttctctgcag	10	10	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:105464556G>A	ENST00000258494.9	-	3	360	c.220C>T	c.(220-222)Cct>Tct	p.P74S	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P74S	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	74	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTGAACACAGGGGTCCCATCT	0.413													False	0	True	12:105464556	0	A	105464556	G	A	105464556	3	1	36	1	0	0	0	0	1	0	0	0	495	1232	43	2	2635	2	ALDH1L2	12	105464556	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	1476288	105464556	28387339	89	2958											
ATP12A	479	broad.mit.edu	37	chr13	25255720	25255720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccccagaaatttactcCgtggagctcagcggaactaa	8	11	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:25255720C>T	ENST00000218548.6	+	2	363	c.30C>T	c.(28-30)tcC>tcT	p.S10S	ATP12A_ENST00000381946.3_Silent_p.S10S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	10					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAATTTACTCCGTGGAGCTCA	0.522													False	0	False	13:25255720	0	T	25255720	C	T	25255720	2	4	36	1	0	0	0	0	0	0	0	1	1126	639	23	1		1	ATP12A	13	25255720	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		25255720	89914158	90	2959											
TRPC4	7223	broad.mit.edu	37	chr13	38211315	38211315	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgaagctaatcctcgagattCcagttgaatatttctctcaa	6	9	2	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:38211315C>G	ENST00000379705.3	-	11	3516	c.2659G>C	c.(2659-2661)Gaa>Caa	p.E887Q	TRPC4_ENST00000447043.1_Missense_Mutation_p.E746Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.E803Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.E892Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.E738Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.E746Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.E714Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.E714Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	887	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTCGAGATTCCAGTTGAATA	0.458													False	0	False	13:38211315	0	G	38211315	C	G	38211315	3	3	36	1	0	0	0	0	1	0	0	0	16663	864	30	5	278	5	TRPC4	13	38211315	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	12955595	38211315	76958563	91	2960											
FARP1	10160	broad.mit.edu	37	chr13	98896791	98896791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaccggctcctcctggaCgggttgggtactgagatgct	14	12	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:98896791C>T	ENST00000376581.5	+	3	254	c.218C>T	c.(217-219)aCg>aTg	p.T73M	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron	NM_001001715.2	NP_001001715.2	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	0	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.T73M(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCCTCCTGGACGGGTTGGGTA	0.488													False	0	True	13:98896791	0	T	98896791	C	T	98896791	3	4	36	1	0	0	0	0	1	0	0	0	5716	536	19	1	224	1	FARP1	13	98896791	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	60685476	98896791	16273087	92	2961											
NALCN	259232	broad.mit.edu	37	chr13	101736104	101736104	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgtgcgatcttcagtcGgctcttcaggtcttcccatc	10	13	5	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:101736104G>A	ENST00000251127.6	-	31	3622	c.3541C>T	c.(3541-3543)Cga>Tga	p.R1181*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1181						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCTTCAGTCGGCTCTTCAGG	0.512													False	0	False	13:101736104	0	A	101736104	G	A	101736104	4	1	36	1	0	0	0	0	0	1	0	0	10215	1124	39	1	1731	1	NALCN	13	101736104	Nonsense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2839313	101736104	13433774	93	2962											
OR11H12	440153	broad.mit.edu	37	chr14	19377838	19377838	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catgttcctgggaaatttctCctttttagagatatggtatg	9	6	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:19377838C>A	ENST00000550708.1	+	1	317	c.245C>A	c.(244-246)tCc>tAc	p.S82Y		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S82F(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAAATTTCTCCTTTTTAGAG	0.423													False	0	False	14:19377838	0	A	19377838	C	A	19377838	3	1	36	1	0	0	0	0	1	0	0	0	10995	855	30	3	247	3	OR11H12	14	19377838	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		19377838	87971702	94	2963											
SLC22A17	51310	broad.mit.edu	37	chr14	23816760	23816760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaccagggaagcaatgccGgtaagggtcatggagagaag	17	6	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:23816760G>A	ENST00000354772.3	-	8	1628	c.1125C>T	c.(1123-1125)acC>acT	p.T375T	SLC22A17_ENST00000206544.8_Silent_p.T375T|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.T375T|SLC22A17_ENST00000397260.3_Silent_p.T264T	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	375					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AAGCAATGCCGGTAAGGGTCA	0.622													False	0	False	14:23816760	0	A	23816760	G	A	23816760	2	1	36	1	0	0	0	0	0	0	0	1	14529	1103	39	1		1	SLC22A17	14	23816760	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	4438922	23816760	83532780	95	2964											
DHRS4L1	728635	broad.mit.edu	37	chr14	24517390	24517390	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacattaatgggaaggcccTagccctaatgataaaggcag	12	8	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:24517390T>C	ENST00000558293.1	+	0	463					NR_102693.1				dehydrogenase/reductase (SDR family) member 4 like 1																		GGGAAGGCCCTAGCCCTAATG	0.507													False	0	True	14:24517390	0	C	24517390	T	C	24517390	1	2	36	0	1	0	0	0	0	0	0	0	4523	1522	53	4		4	DHRS4L1	14	24517390	RNA	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	700630	24517390	82832150	96	2965											
NYNRIN	57523	broad.mit.edu	37	chr14	24886290	24886290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtgggagatgagcagcGcaaacattgaagggctcaag	16	6	1	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:24886290G>A	ENST00000382554.3	+	9	5653	c.5335G>A	c.(5335-5337)Gca>Aca	p.A1779T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1779					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GATGAGCAGCGCAAACATTGA	0.617													False	0	False	14:24886290	0	A	24886290	G	A	24886290	3	1	36	1	0	0	0	0	1	0	0	0	10864	1087	38	1	5365	1	NYNRIN	14	24886290	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	368900	24886290	82463250	97	2966											
CFL2	1073	broad.mit.edu	37	chr14	35182567	35182567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaacttcacaaaagatgtGtaggggtcctctacagtatc	9	9	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:35182567G>A	ENST00000341223.3	-	2	355	c.204C>T	c.(202-204)taC>taT	p.Y68Y	CFL2_ENST00000556161.1_Silent_p.Y51Y|CFL2_ENST00000555765.1_Silent_p.Y51Y|CFL2_ENST00000298159.6_Silent_p.Y68Y	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	68	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CAAAAGATGTGTAGGGGTCCT	0.398													False	0	False	14:35182567	0	A	35182567	G	A	35182567	2	1	36	1	0	0	0	0	0	0	0	1	3314	1372	48	2		2	CFL2	14	35182567	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	10296277	35182567	72166973	98	2967											
ZFP36L1	677	broad.mit.edu	37	chr14	69256429	69256429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggactcggacatgggccGgaagaggaaggtggtcgggg	22	6	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:69256429G>A	ENST00000439696.2	-	2	1139	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R280W	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	280					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GACATGGGCCGGAAGAGGAAG	0.632											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	14:69256429	0	A	69256429	G	A	69256429	3	1	36	1	0	0	0	0	1	0	0	0	17729	1115	39	1	182	1	ZFP36L1	14	69256429	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	34073862	69256429	38093111	99	2968											
ATP10A	57194	broad.mit.edu	37	chr15	25947218	25947218	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aatagtttcagggactccgtCctgcaggcggtcttcaatcc	10	12	3	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:25947218C>G	ENST00000356865.6	-	13	2716	c.2605G>C	c.(2605-2607)Gac>Cac	p.D869H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	869					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGACTCCGTCCTGCAGGCGG	0.527													False	0	False	15:25947218	0	G	25947218	C	G	25947218	3	3	36	1	0	0	0	0	1	0	0	0	1120	855	30	5	1930	5	ATP10A	15	25947218	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		25947218	76584174	100	2969											
ONECUT1	3175	broad.mit.edu	37	chr15	53081647	53081647	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgagcgtgaagctaccgctCacgttgcccgccaggcgctg	13	14	1	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:53081647C>T	ENST00000305901.5	-	1	562	c.435G>A	c.(433-435)gtG>gtA	p.V145V	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	145					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		AGCTACCGCTCACGTTGCCCG	0.642													False	0	False	15:53081647	0	T	53081647	C	T	53081647	2	4	36	1	0	0	0	0	0	0	0	1	10936	813	29	2		2	ONECUT1	15	53081647	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	27134429	53081647	49449745	101	2970											
HERC1	8925	broad.mit.edu	37	chr15	64025227	64025227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttgatctgacagatttcCgtagccagtacacacagaag	10	9	1	4			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:64025227C>T	ENST00000443617.2	-	14	2851	c.2764G>A	c.(2764-2766)Gga>Aga	p.G922R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	922					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.G922*(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACAGATTTCCGTAGCCAGTA	0.458													False	0	False	15:64025227	0	T	64025227	C	T	64025227	3	4	36	1	0	0	0	0	1	0	0	0	7104	661	23	1	12081	1	HERC1	15	64025227	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	10943580	64025227	38506165	102	2971											
RBBP6	5930	broad.mit.edu	37	chr16	24580170	24580170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttattctcgatcattcaGccgctcacattctcgttcct	4	15	6	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:24580170G>T	ENST00000319715.4	+	17	2591	c.2159G>T	c.(2158-2160)aGc>aTc	p.S720I	RBBP6_ENST00000348022.2_Missense_Mutation_p.S686I|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	720					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGATCATTCAGCCGCTCACAT	0.438													False	0	False	16:24580170	0	T	24580170	G	T	24580170	3	4	36	1	0	0	0	0	1	0	0	0	13182	971	34	3	2279	3	RBBP6	16	24580170	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		24580170	65774583	103	2972											
KIAA0556	23247	broad.mit.edu	37	chr16	27720186	27720226	+	Frame_Shift_Del	DEL	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	-													gtcgccccacgatgtggataTccggaacacagccacgcctg					rs115314923	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	-	-	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:27720186_27720226delTCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	ENST00000261588.4	+	13	1569_1609	c.1550_1590delTCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	c.(1549-1590)atccggaacacagccacgcctggggagctgggccgcctcgtcfs	p.IRNTATPGELGRLV517fs	CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000568831.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	517								p.T522M(1)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GATGTGGATATCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTCAACAGGAACT	0.527													False	1	True	16:27720186	0	-	27720226	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	-	27720186	7	5	36	1	0	1	0	1	0	0	0	0	8233	1435	50	0	1600	0	KIAA0556	16	27720186	Frame_Shift_Del	DEL	TCCGGAACACAGCCACGCCTGGGGAGCTGGGCCGCCTCGTC	TCGA-F2-A8YN-01A-11D-A377-08	3140016	27720186	62634567	104	2973											
SEPHS2	22928	broad.mit.edu	37	chr16	30456111	30456111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgtgatatctgtggccGcatgggcattaaatgtgtgc	13	8	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:30456111G>A	ENST00000478753.2	-	1	1391	c.938C>T	c.(937-939)gCg>gTg	p.A313V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	313					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ATCTGTGGCCGCATGGGCATT	0.448													False	0	False	16:30456111	0	A	30456111	G	A	30456111	3	1	36	1	0	0	0	0	1	0	0	0	14136	1087	38	1	412	1	SEPHS2	16	30456111	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2735925	30456111	59898642	105	2974											
KCTD19	146212	broad.mit.edu	37	chr16	67333359	67333359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcccagcgcagagtccGggtacttgaccagcagaccc	13	15	0	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:67333359G>A	ENST00000304372.5	-	6	948	c.893C>T	c.(892-894)cCg>cTg	p.P298L	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	298						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CGCAGAGTCCGGGTACTTGAC	0.622													False	0	True	16:67333359	0	A	67333359	G	A	67333359	3	1	36	1	0	0	0	0	1	0	0	0	8156	1116	39	1	1931	1	KCTD19	16	67333359	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	36877248	67333359	23021394	106	2975											
NIP7	51388	broad.mit.edu	37	chr16	69373736	69373736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacccagggggaaaaatgCggcctttgactgaagaggag	14	9	0	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:69373736C>T	ENST00000254940.5	+	1	404	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000254941.6_Missense_Mutation_p.R2W|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000569637.2_Missense_Mutation_p.R2W	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	2					ribosome assembly	nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGGAAAAATGCGGCCTTTGAC	0.592											OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	16:69373736	0	T	69373736	C	T	69373736	3	4	36	1	0	0	0	0	1	0	0	0	10489	759	27	1	6	1	NIP7	16	69373736	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	2040377	69373736	20981017	107	2976											
HYDIN	54768	broad.mit.edu	37	chr16	71101253	71101253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctccacgtccaccacgagtGccagctcgtatttctgcaca	7	17	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:71101253G>T	ENST00000393567.2	-	15	2165	c.2015C>A	c.(2014-2016)gCa>gAa	p.A672E	HYDIN_ENST00000448089.2_Missense_Mutation_p.A672E|HYDIN_ENST00000393550.2_Missense_Mutation_p.A687E|HYDIN_ENST00000321489.5_Missense_Mutation_p.A672E|HYDIN_ENST00000288168.10_Missense_Mutation_p.A689E|HYDIN_ENST00000541601.1_Missense_Mutation_p.A689E|HYDIN_ENST00000448691.1_Missense_Mutation_p.A672E|HYDIN_ENST00000538248.1_Missense_Mutation_p.A699E	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	672								p.A672E(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CACCACGAGTGCCAGCTCGTA	0.532													False	0	False	16:71101253	0	T	71101253	G	T	71101253	3	4	36	1	0	0	0	0	1	0	0	0	7517	1319	46	3	13647	3	HYDIN	16	71101253	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	1727517	71101253	19253500	108	2977											
ZZEF1	23140	broad.mit.edu	37	chr17	3936124	3936124	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttcagagtgtggtacctGggggaagccaaccagcacga	14	11	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:3936124G>A	ENST00000381638.2	-	41	6881	c.6757C>T	c.(6757-6759)Cag>Tag	p.Q2253*		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2253							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGTGGTACCTGGGGGAAGCCA	0.537													False	0	True	17:3936124	0	A	3936124	G	A	3936124	4	1	36	1	0	0	0	0	0	1	0	0	18337	1357	47	2	2188	2	ZZEF1	17	3936124	Nonsense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		3936124	77259086	109	2978											
TP53	7157	broad.mit.edu	37	chr17	7578180	7578190	+	Frame_Shift_Del	DEL	AGGCGGCTCAT	AGGCGGCTCAT	-													ccagttgcaaaccagacctcAggcggctcatagggcaccac					rs121912666		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	AGGCGGCTCAT	AGGCGGCTCAT	-	-	AGGCGGCTCAT	AGGCGGCTCAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:7578180_7578190delAGGCGGCTCAT	ENST00000420246.2	-	6	791_801	c.659_669delATGAGCCGCCT	c.(658-669)tatgagccgcctfs	p.YEPP220fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.YEPP220fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.E221*(14)|p.Y220S(12)|p.?(12)|p.0?(8)|p.P222P(5)|p.P222L(5)|p.P223P(4)|p.P223L(4)|p.E128*(3)|p.Y220*(3)|p.P223fs*1(3)|p.E221fs*4(3)|p.P222T(3)|p.E221E(2)|p.E221G(2)|p.E221fs*26(2)|p.P223H(2)|p.E221D(2)|p.P222S(2)|p.E221K(2)|p.P223R(1)|p.P223S(1)|p.P222fs*24(1)|p.P223A(1)|p.P223fs*24(1)|p.Y127S(1)|p.Y220_P223delYEPP(1)|p.P222Q(1)|p.P130fs*1(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)|p.D208fs*1(1)|p.E221fs*2(1)|p.Y220fs*25(1)|p.V218_E221delVPYE(1)|p.P222A(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P222fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCAGACCTCAGGCGGCTCATAGGGCACCAC	0.55		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)			False	1	False	17:7578180	0	-	7578190	AGGCGGCTCAT	-	7578180	7	5	36	1	0	1	0	1	0	0	0	0	16464	175	7	0	625	0	TP53	17	7578180	Frame_Shift_Del	DEL	AGGCGGCTCAT	TCGA-F2-A8YN-01A-11D-A377-08	3642056	7578180	73617030	110	2979											
MYH13	8735	broad.mit.edu	37	chr17	10209864	10209864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgcaggtccttcaccGtctgctccaggttcttcttc	10	14	4	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:10209864G>A	ENST00000418404.3	-	36	5541	c.5378C>T	c.(5377-5379)aCg>aTg	p.T1793M	MYH13_ENST00000570743.1_Missense_Mutation_p.T1793M|MYH13_ENST00000252172.4_Missense_Mutation_p.T1793M			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1793					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCCTTCACCGTCTGCTCCAG	0.552													False	0	False	17:10209864	0	A	10209864	G	A	10209864	3	1	36	1	0	0	0	0	1	0	0	0	10099	1145	40	1	458	1	MYH13	17	10209864	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2631684	10209864	70985346	111	2980											
KCNJ12	3768	broad.mit.edu	37	chr17	21319451	21319451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaccgcatctttctggtgtCgcccatcaccatcttgcatg	9	14	4	0	rs144590967	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:21319451C>T	ENST00000583088.1	+	3	1692	c.797C>T	c.(796-798)tCg>tTg	p.S266L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S266L	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TTTCTGGTGTCGCCCATCACC	0.607										Prostate(3;0.18)			False	0	False	17:21319451	0	T	21319451	C	T	21319451	3	4	36	1	0	0	0	0	1	0	0	0	8096	893	31	1	799	1	KCNJ12	17	21319451	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	11109587	21319451	59875759	112	2981											
KRT26	353288	broad.mit.edu	37	chr17	38926251	38926251	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcatctttgcggttctGctcagccaagtcctcatact	7	13	5	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:38926251G>A	ENST00000335552.4	-	4	853	c.805C>T	c.(805-807)Cag>Tag	p.Q269*		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	269	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTGCGGTTCTGCTCAGCCAAG	0.522													False	0	False	17:38926251	0	A	38926251	G	A	38926251	4	1	36	1	0	0	0	0	0	1	0	0	8513	1328	46	2	621	2	KRT26	17	38926251	Nonsense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	17606800	38926251	42268959	113	2982											
NPEPPS	9520	broad.mit.edu	37	chr17	45669380	45669380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctatatcatatagcaAaggtgcatctgtcatccgaa	8	8	3	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:45669380A>G	ENST00000322157.4	+	11	1556	c.1319A>G	c.(1318-1320)aAa>aGa	p.K440R	NPEPPS_ENST00000530173.1_Missense_Mutation_p.K436R|NPEPPS_ENST00000544660.1_Missense_Mutation_p.K360R|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	440					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCATATAGCAAAGGTGCATCT	0.378													False	0	True	17:45669380	0	G	45669380	A	G	45669380	3	3	36	1	0	0	0	0	1	0	0	0	10643	14	1	4	1361	4	NPEPPS	17	45669380	Missense_Mutation	SNP	A	TCGA-F2-A8YN-01A-11D-A377-08	6743129	45669380	35525830	114	2983											
SAMD14	201191	broad.mit.edu	37	chr17	48191617	48191617	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctgccagggcccactGgggatcttggggctgctgct	15	14	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:48191617G>T	ENST00000330175.4	-	8	1193	c.876C>A	c.(874-876)ccC>ccA	p.P292P	SAMD14_ENST00000503131.1_Silent_p.P320P	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	292										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AGGGCCCACTGGGGATCTTGG	0.597													False	0	True	17:48191617	0	T	48191617	G	T	48191617	2	4	36	1	0	0	0	0	0	0	0	1	13898	1335	47	3		3	SAMD14	17	48191617	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2522237	48191617	33003593	115	2984											
L3MBTL4	91133	broad.mit.edu	37	chr18	5969486	5969486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccgaggggaaggtccCgaaaagggtgggctgacacc	16	12	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr18:5969486C>T	ENST00000284898.6	-	18	1747	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R507Q|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320Q|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516Q	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	516					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GGGAAGGTCCCGAAAAGGGTG	0.607													False	0	True	18:5969486	0	T	5969486	C	T	5969486	3	4	36	1	0	0	0	0	1	0	0	0	8645	652	23	1	336	1	L3MBTL4	18	5969486	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		5969486	72107762	116	2985											
NDUFV2	4729	broad.mit.edu	37	chr18	9122540	9122540	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttttacaagtacctccaatGagagtatatgaagtagcaac	8	7	0	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr18:9122540G>A	ENST00000400033.1	+	6	456	c.339G>A	c.(337-339)atG>atA	p.M113I	RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.M110I|RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000582375.1_RNA			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	110					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	TACCTCCAATGAGAGTATATG	0.328													False	0	False	18:9122540	0	A	9122540	G	A	9122540	3	1	36	1	0	0	0	0	1	0	0	0	10368	1290	45	2	348	2	NDUFV2	18	9122540	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	3153054	9122540	68954708	117	2986											
CD97	976	broad.mit.edu	37	chr19	14499539	14499539	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggtggtgccctcagaaCtcctcgtgtgtcaatgccac	11	15	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:14499539C>T	ENST00000242786.5	+	3	179	c.99C>T	c.(97-99)aaC>aaT	p.N33N	CD97_ENST00000358600.3_Silent_p.N33N|CD97_ENST00000587728.1_3'UTR|CD97_ENST00000357355.3_Silent_p.N33N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	33	EGF-like 1.				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCCTCAGAACTCCTCGTGTG	0.587													False	0	False	19:14499539	0	T	14499539	C	T	14499539	2	4	36	1	0	0	0	0	0	0	0	1	3072	564	20	2		2	CD97	19	14499539	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		14499539	44629444	118	2987											
CPAMD8	27151	broad.mit.edu	37	chr19	17010311	17010311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtagaagagcactcggCgtccagccacttcatacctc	8	14	1	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:17010311C>T	ENST00000443236.1	-	37	4995	c.4964G>A	c.(4963-4965)cGc>cAc	p.R1655H		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1608						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GAGCACTCGGCGTCCAGCCAC	0.577													False	0	False	19:17010311	0	T	17010311	C	T	17010311	3	4	36	1	0	0	0	0	1	0	0	0	3818	768	27	1	858	1	CPAMD8	19	17010311	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	2510772	17010311	42118672	119	2988											
CPAMD8	27151	broad.mit.edu	37	chr19	17057923	17057923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcgctgaaggacagaaCgacccagatgggctcagcct	13	12	1	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:17057923C>T	ENST00000443236.1	-	21	2795	c.2764G>A	c.(2764-2766)Gtt>Att	p.V922I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	875						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGGACAGAACGACCCAGATG	0.597													False	0	False	19:17057923	0	T	17057923	C	T	17057923	3	4	36	1	0	0	0	0	1	0	0	0	3818	536	19	1	3122	1	CPAMD8	19	17057923	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	47612	17057923	42071060	120	2989											
ZNF536	9745	broad.mit.edu	37	chr19	30935392	30935392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacgttgtgcgacttcgCggcttcgcaggaggaggagc	17	10	0	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:30935392C>T	ENST00000355537.3	+	2	1070	c.923C>T	c.(922-924)gCg>gTg	p.A308V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCGACTTCGCGGCTTCGCAG	0.642													False	0	False	19:30935392	0	T	30935392	C	T	30935392	3	4	36	1	0	0	0	0	1	0	0	0	18057	768	27	1	925	1	ZNF536	19	30935392	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	13877469	30935392	28193591	121	2990											
CYP2A7	1549	broad.mit.edu	37	chr19	41383142	41383142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctttttaaccctgcGggccaaactcatggggatca	11	11	2	0	rs151290022		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:41383142G>A	ENST00000301146.4	-	7	1655	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	CYP2A7_ENST00000291764.3_Missense_Mutation_p.R321C|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	372						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTAACCCTGCGGGCCAAACTC	0.547													False	0	True	19:41383142	0	A	41383142	G	A	41383142	3	1	36	1	0	0	0	0	1	0	0	0	4188	1116	39	1	382	1	CYP2A7	19	41383142	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	10447750	41383142	17745841	122	2991											
NR1H2	7376	broad.mit.edu	37	chr19	50881485	50881485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgggccacgagctttgCcgtgtctgtggggacaaggc	16	10	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:50881485C>T	ENST00000253727.5	+	5	496	c.261C>T	c.(259-261)tgC>tgT	p.C87C	NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Silent_p.C87C|NR1H2_ENST00000599105.1_Silent_p.C87C|NR1H2_ENST00000593926.1_Silent_p.C87C|NR1H2_ENST00000411902.2_Intron	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	87					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACGAGCTTTGCCGTGTCTGTG	0.637													False	0	False	19:50881485	0	T	50881485	C	T	50881485	2	4	36	1	0	0	0	0	0	0	0	1	10685	747	26	2		2	NR1H2	19	50881485	Silent	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	9498343	50881485	8247498	123	2992											
RBM12	10137	broad.mit.edu	37	chr20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaggtattcctgcactggGcattcccgcaccaggcagtc	10	14	0	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557													False	0	True	20:34241168	0	A	34241168	G	A	34241168	3	1	36	1	0	0	0	0	1	0	0	0	13192	1203	42	2	725	2	RBM12	20	34241168	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		34241168	28784352	124	2993											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-													atgcagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55													False	1	True	20:46279833	0	-	46279834	GC	-	46279833	7	5	36	1	0	1	0	1	0	0	0	0	10298	962	34	0	3859	0	NCOA3	20	46279833	Frame_Shift_Del	DEL	GC	TCGA-F2-A8YN-01A-11D-A377-08	12038665	46279833	16745687	125	2994											
SLMO2	51012	broad.mit.edu	37	chr20	57613612	57613612	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctatatgtctgtccaacacaTcaactccaaccacacttggg	5	14	2	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:57613612T>A	ENST00000355937.4	-	2	288	c.110A>T	c.(109-111)gAt>gTt	p.D37V	SLMO2_ENST00000371033.5_Missense_Mutation_p.D37V	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	37	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			GTCCAACACATCAACTCCAAC	0.478													False	0	False	20:57613612	0	A	57613612	T	A	57613612	3	1	36	1	0	0	0	0	1	0	0	0	14831	1435	50	5	494	5	SLMO2	20	57613612	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	11333779	57613612	5411908	126	2995											
MYO18B	84700	broad.mit.edu	37	chr22	26164808	26164808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagggagtgaagggaagcacGtaaggccccaaatccctggg	15	9	0	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:26164808G>T	ENST00000335473.7	+	4	1175	c.925G>T	c.(925-927)Gta>Tta	p.V309L	MYO18B_ENST00000536101.1_Missense_Mutation_p.V309L|MYO18B_ENST00000407587.2_Missense_Mutation_p.V309L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	309						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGGAAGCACGTAAGGCCCCA	0.557													False	0	False	22:26164808	0	T	26164808	G	T	26164808	3	4	36	1	0	0	0	0	1	0	0	0	10133	1145	40	3	935	3	MYO18B	22	26164808	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08		26164808	25139758	127	2996											
ZNRF3	84133	broad.mit.edu	37	chr22	29445400	29445400	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagagcctctattccccgCagacccccgcctacatccgc	7	20	1	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:29445400C>T	ENST00000544604.2	+	8	1406	c.1231C>T	c.(1231-1233)Cag>Tag	p.Q411*	ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q311*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	411						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CTATTCCCCGCAGACCCCCGC	0.682													False	0	False	22:29445400	0	T	29445400	C	T	29445400	4	4	36	1	0	0	0	0	0	1	0	0	18295	711	25	2	957	2	ZNRF3	22	29445400	Nonsense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	3280592	29445400	21859166	128	2997											
DRG1	4733	broad.mit.edu	37	chr22	31819348	31819348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgccgatgtgactctacGtagtgatgctacagctgatg	11	8	1	3			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:31819348G>A	ENST00000331457.4	+	6	826	c.665G>A	c.(664-666)cGt>cAt	p.R222H		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	222					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	p.R222H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						GTGACTCTACGTAGTGATGCT	0.478													False	0	False	22:31819348	0	A	31819348	G	A	31819348	3	1	36	1	0	0	0	0	1	0	0	0	4791	1145	40	1	687	1	DRG1	22	31819348	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	2373948	31819348	19485218	129	2998											
RANGAP1	5905	broad.mit.edu	37	chr22	41647029	41647029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctactgcatcctgcactgCcatcctcacagtagcttcgt	6	16	1	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:41647029C>T	ENST00000455915.2	-	12	2934	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	RANGAP1_ENST00000407260.4_Missense_Mutation_p.A434T|RANGAP1_ENST00000356244.3_Missense_Mutation_p.A489T|RANGAP1_ENST00000405486.1_Missense_Mutation_p.A489T			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	489					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTGCACTGCCATCCTCACA	0.557													False	0	False	22:41647029	0	T	41647029	C	T	41647029	3	4	36	1	0	0	0	0	1	0	0	0	13112	739	26	2	314	2	RANGAP1	22	41647029	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08	9827681	41647029	9657537	130	2999											
TCF20	6942	broad.mit.edu	37	chr22	42609709	42609709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctggccacttagttgccGcactctctcgccttgatcct	8	16	2	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:42609709G>A	ENST00000359486.3	-	1	1739	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	TCF20_ENST00000335626.4_Missense_Mutation_p.R535W	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTAGTTGCCGCACTCTCTCG	0.557													False	0	False	22:42609709	0	A	42609709	G	A	42609709	3	1	36	1	0	0	0	0	1	0	0	0	15772	1086	38	1	4317	1	TCF20	22	42609709	Missense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	962680	42609709	8694857	131	3000											
SLC25A6	293	broad.mit.edu	37	chrX	1508553	1508553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctgctccttggggatgCggacaatgcagtccacgatg	13	13	0	0			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:1508553C>T	ENST00000381401.5	-	2	893	c.179G>A	c.(178-180)cGc>cAc	p.R60H	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	60					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTTGGGGATGCGGACAATGCA	0.607													False	0	False	X:1508553	0	T	1508553	C	T	1508553	3	4	36	1	0	0	0	0	1	0	0	0	14593	768	27	1	729	1	SLC25A6	23	1508553	Missense_Mutation	SNP	C	TCGA-F2-A8YN-01A-11D-A377-08		1508553	153762007	132	3001											
FAM104B	90736	broad.mit.edu	37	chrX	55172586	55172586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaggtctggttgatatgGgagtaaagaccttggcatgg	14	5	2	2			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:55172586G>A	ENST00000425133.2	-	3	320	c.282C>T	c.(280-282)tcC>tcT	p.S94S	FAM104B_ENST00000489298.1_Silent_p.S92S|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000477847.2_Silent_p.S90S|FAM104B_ENST00000472571.2_3'UTR	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	0								p.S94S(1)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGTTGATATGGGAGTAAAGAC	0.478													False	0	True	X:55172586	0	A	55172586	G	A	55172586	2	1	36	1	0	0	0	0	0	0	0	1	5422	1219	43	2		2	FAM104B	23	55172586	Silent	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	53664033	55172586	100097974	133	3002											
IRS4	8471	broad.mit.edu	37	chrX	107976904	107976904	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtaataaaagaaagtcGgttaggtctcttagctttat	8	4	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:107976904G>A	ENST00000372129.2	-	1	2747	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	891						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAAGAAAGTCGGTTAGGTCTC	0.443													False	0	False	X:107976904	0	A	107976904	G	A	107976904	4	1	36	1	0	0	0	0	0	1	0	0	7892	1124	39	1	1106	1	IRS4	23	107976904	Nonsense_Mutation	SNP	G	TCGA-F2-A8YN-01A-11D-A377-08	52804318	107976904	47293656	134	3003											
HTR2C	3358	broad.mit.edu	37	chrX	114141599	114141599	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atttttcattaccaatattcTgtctgttctttgtgagaagt	6	6	4	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:114141599T>A	ENST00000276198.1	+	6	1726	c.998T>A	c.(997-999)cTg>cAg	p.L333Q	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.L333Q	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	333					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCAATATTCTGTCTGTTCTT	0.383													False	0	True	X:114141599	0	A	114141599	T	A	114141599	3	1	36	1	0	0	0	0	1	0	0	0	7493	1580	55	5	1012	5	HTR2C	23	114141599	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	6164695	114141599	41128961	135	3004											
DKC1	1736	broad.mit.edu	37	chrX	154001414	154001414	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatgcctgtagctattgcaTtaatgaccacagcggtcatc	8	11	1	1			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:154001414T>A	ENST00000369550.5	+	11	1255	c.1045T>A	c.(1045-1047)Tta>Ata	p.L349I	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	349	PUA.				cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCTATTGCATTAATGACCAC	0.408									Congenital Dyskeratosis				False	0	False	X:154001414	0	A	154001414	T	A	154001414	3	1	36	1	0	0	0	0	1	0	0	0	4572	1490	52	5	1087	5	DKC1	23	154001414	Missense_Mutation	SNP	T	TCGA-F2-A8YN-01A-11D-A377-08	39859815	154001414	1269146	136	3005											
CHD5	26038	broad.mit.edu	37	chr1	6202252	6202252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggaaaactcgttctccCgaatcaccgagcggctctcc	8	15	3	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:6202252C>T	ENST00000262450.3	-	15	2471	c.2372G>A	c.(2371-2373)cGg>cAg	p.R791Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	791	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCGTTCTCCCGAATCACCGA	0.557													False	0	True	1:6202252	0	T	6202252	C	T	6202252	3	4	37	1	0	0	0	0	1	0	0	0	3351	652	23	1	3600	1	CHD5	1	6202252	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08		6202252	243048369	1	3006											
EPHA8	2046	broad.mit.edu	37	chr1	22923888	22923888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcggaaccccacacctacGaggagccaggccgggcgggc	15	15	0	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:22923888G>A	ENST00000166244.3	+	10	1921	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	617						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCACACCTACGAGGAGCCAGG	0.637													False	0	False	1:22923888	0	A	22923888	G	A	22923888	3	1	37	1	0	0	0	0	1	0	0	0	5205	1059	37	1	2060	1	EPHA8	1	22923888	Missense_Mutation	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08	16721636	22923888	226326733	2	3007											
EPHA8	2046	broad.mit.edu	37	chr1	22927844	22927844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgacctccgagggggcagCggtggcggtgggggcctcac	19	11	1	1			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:22927844C>T	ENST00000166244.3	+	16	2853	c.2781C>T	c.(2779-2781)agC>agT	p.S927S		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	927						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGGGGGCAGCGGTGGCGGTG	0.692													False	0	True	1:22927844	0	T	22927844	C	T	22927844	2	4	37	1	0	0	0	0	0	0	0	1	5205	767	27	1		1	EPHA8	1	22927844	Silent	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	3956	22927844	226322777	3	3008											
HMCN1	83872	broad.mit.edu	37	chr1	186057376	186057376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgggatcccacctcccaCgatagcatggttaaagaacc	8	14	0	1			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:186057376C>T	ENST00000271588.4	+	62	9774	c.9545C>T	c.(9544-9546)aCg>aTg	p.T3182M	HMCN1_ENST00000367492.2_Missense_Mutation_p.T3182M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3182	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCACCTCCCACGATAGCATGG	0.443													False	0	False	1:186057376	0	T	186057376	C	T	186057376	3	4	37	1	0	0	0	0	1	0	0	0	7267	536	19	1	9791	1	HMCN1	1	186057376	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	163129532	186057376	63193245	4	3009											
PRG4	10216	broad.mit.edu	37	chr1	186281436	186281436	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgctttgaacgtgctaTaggaccttctcaaacacaca	7	12	1	1			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr1:186281436T>A	ENST00000445192.2	+	11	3968	c.3923T>A	c.(3922-3924)aTa>aAa	p.I1308K	PRG4_ENST00000367484.3_Missense_Mutation_p.I837K|PRG4_ENST00000367485.4_Missense_Mutation_p.I1215K|TPR_ENST00000367478.4_3'UTR|PRG4_ENST00000367483.4_Missense_Mutation_p.I1267K|PRG4_ENST00000367486.3_Missense_Mutation_p.I1265K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1308					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAACGTGCTATAGGACCTTCT	0.418													False	0	False	1:186281436	0	A	186281436	T	A	186281436	3	1	37	1	0	0	0	0	1	0	0	0	12557	1406	49	5	3961	5	PRG4	1	186281436	Missense_Mutation	SNP	T	TCGA-FB-A4P5-01A-11D-A26I-08	224060	186281436	62969185	5	3010											
APOB	338	broad.mit.edu	37	chr2	21251239	21251239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagttcaagatattggcaaTatgggaagccacaaagttct	10	6	2	2			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr2:21251239T>C	ENST00000233242.1	-	13	1916	c.1789A>G	c.(1789-1791)Att>Gtt	p.I597V	APOB_ENST00000399256.4_Missense_Mutation_p.I597V	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	597	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATTGGCAATATGGGAAGCC	0.418													False	0	False	2:21251239	0	C	21251239	T	C	21251239	3	2	37	1	0	0	0	0	1	0	0	0	787	1406	49	4	11970	4	APOB	2	21251239	Missense_Mutation	SNP	T	TCGA-FB-A4P5-01A-11D-A26I-08		21251239	221948134	6	3011											
CNGA3	1261	broad.mit.edu	37	chr2	99013339	99013339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaggacggccaacatccGcagcattggctactcagacc	10	16	1	1			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr2:99013339G>A	ENST00000393504.1	+	8	2123	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	CNGA3_ENST00000409937.1_Missense_Mutation_p.R573H|CNGA3_ENST00000436404.2_Missense_Mutation_p.R551H|CNGA3_ENST00000272602.2_Missense_Mutation_p.R569H	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	569			R -> H (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCCAACATCCGCAGCATTGGC	0.582													False	0	False	2:99013339	0	A	99013339	G	A	99013339	3	1	37	1	0	0	0	0	1	0	0	0	3621	1087	38	1	1732	1	CNGA3	2	99013339	Missense_Mutation	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08	77762100	99013339	144186034	7	3012											
TLR9	54106	broad.mit.edu	37	chr3	52255986	52255986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacccggctgggcagaccGggcacggcagcctgcacctc	13	17	1	1			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr3:52255986G>A	ENST00000494383.1	-	5	2805	c.2806C>T	c.(2806-2808)Cgg>Tgg	p.R936W	TLR9_ENST00000360658.2_Silent_p.P782P|TLR9_ENST00000597542.1_Silent_p.P806P			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TGGGCAGACCGGGCACGGCAG	0.647													False	0	True	3:52255986	0	A	52255986	G	A	52255986	3	1	37	1	0	0	0	0	1	0	0	0	16040	1103	39	1	756	1	TLR9	3	52255986	Missense_Mutation	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08		52255986	145766444	8	3013											
DCBLD2	131566	broad.mit.edu	37	chr3	98518461	98518461	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaagtggatgtggagggctGaccaactgaagttgtggggt	18	4	0	2			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr3:98518461G>A	ENST00000326840.6	-	16	2445	c.2083C>T	c.(2083-2085)Cag>Tag	p.Q695*	DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Q709*	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	695					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTGGAGGGCTGACCAACTGAA	0.527													False	0	False	3:98518461	0	A	98518461	G	A	98518461	4	1	37	1	0	0	0	0	0	1	0	0	4306	1299	45	2	248	2	DCBLD2	3	98518461	Nonsense_Mutation	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08	46262475	98518461	99503969	9	3014											
SEMA5A	9037	broad.mit.edu	37	chr5	9066644	9066644	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggctttgcatgtgtatcGgaatcgttgctcatagtggc	14	8	1	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:9066644G>A	ENST00000382496.5	-	17	2853	c.2188C>T	c.(2188-2190)Cga>Tga	p.R730*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	730	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CATGTGTATCGGAATCGTTGC	0.557													False	0	False	5:9066644	0	A	9066644	G	A	9066644	4	1	37	1	0	0	0	0	0	1	0	0	14118	1124	39	1	1064	1	SEMA5A	5	9066644	Nonsense_Mutation	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08		9066644	171848616	10	3015											
PCDHGB3	0	broad.mit.edu	37	chr5	140751764	140751764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcagactcgggatacaaCgcctggctgtcctaccacat	10	14	0	1	rs57763341		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:140751764C>T	ENST00000576222.1	+	1	1934	c.1803C>T	c.(1801-1803)aaC>aaT	p.N601N	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGATACAACGCCTGGCTGT	0.672													False	0	False	5:140751764	0	T	140751764	C	T	140751764	2	4	37	1	0	0	0	0	0	0	0	1	11632	535	19	1		1	PCDHGB3	5	140751764	Silent	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	131685120	140751764	40163496	11	3016											
PCDHGB4	0	broad.mit.edu	37	chr5	140769030	140769030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgagcagctgcgcgccttcGaactcacactgcaggcccgc	11	17	1	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:140769030G>A	ENST00000519479.1	+	1	1579	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCCTTCGAACTCACACT	0.677													False	0	False	5:140769030	0	A	140769030	G	A	140769030	3	1	37	1	0	0	0	0	1	0	0	0	11633	1059	37	1	1581	1	PCDHGB4	5	140769030	Missense_Mutation	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08	17266	140769030	40146230	12	3017											
SLC6A7	6534	broad.mit.edu	37	chr5	149576606	149576606	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctctccccacaccaggCgccggcgcagccatgctgct	10	20	1	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:149576606C>T	ENST00000230671.2	+	4	722	c.351C>T	c.(349-351)ggC>ggT	p.G117G	SLC6A7_ENST00000524041.1_Splice_Site_p.G117G	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	117						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCACACCAGGCGCCGGCGCAG	0.637													False	0	False	5:149576606	0	T	149576606	C	T	149576606	5	4	37	1	0	0	0	0	0	0	1	0	14769	782	27	1	365	1	SLC6A7	5	149576606	Splice_Site	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	8807576	149576606	31338654	13	3018											
GRM6	2916	broad.mit.edu	37	chr5	178410024	178410024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgttgaaggtctcgggcaCgccacgggccttgatggcgt	15	12	1	2			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr5:178410024C>T	ENST00000231188.5	-	9	2501	c.2323G>A	c.(2323-2325)Gtg>Atg	p.V775M	GRM6_ENST00000517717.1_Missense_Mutation_p.V775M|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	775					detection of visible light|visual perception	integral to plasma membrane		p.V775M(2)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTCTCGGGCACGCCACGGGCC	0.597													False	0	False	5:178410024	0	T	178410024	C	T	178410024	3	4	37	1	0	0	0	0	1	0	0	0	6848	536	19	1	318	1	GRM6	5	178410024	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	28833418	178410024	2505236	14	3019											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	37	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-FB-A4P5-01A-11D-A26I-08		7393450	163721617	15	3020											
RADIL	55698	broad.mit.edu	37	chr7	4917630	4917630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcggggtcatcgctggcGcccaggctggagaaggtgga	19	10	1	1			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr7:4917630G>A	ENST00000399583.3	-	2	328	c.141C>T	c.(139-141)ggC>ggT	p.G47G	RADIL_ENST00000536091.1_Silent_p.G47G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	47					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CATCGCTGGCGCCCAGGCTGG	0.627													False	0	True	7:4917630	0	A	4917630	G	A	4917630	2	1	37	1	0	0	0	0	0	0	0	1	13076	1074	38	1		1	RADIL	7	4917630	Silent	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08		4917630	154221033	16	3021											
SP4	6671	broad.mit.edu	37	chr7	21516727	21516727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggacaagatggagtaaaagTccagcaagctactatagctc	10	8	0	1			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr7:21516727T>C	ENST00000222584.3	+	4	1927	c.1709T>C	c.(1708-1710)gTc>gCc	p.V570A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	570					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GGAGTAAAAGTCCAGCAAGCT	0.378													False	0	False	7:21516727	0	C	21516727	T	C	21516727	3	2	37	1	0	0	0	0	1	0	0	0	15046	1667	58	4	1723	4	SP4	7	21516727	Missense_Mutation	SNP	T	TCGA-FB-A4P5-01A-11D-A26I-08	16599097	21516727	137621936	17	3022											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	37	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-FB-A4P5-01A-11D-A26I-08	22637051	44153778	114984885	18	3023											
HAS2	3037	broad.mit.edu	37	chr8	122641537	122641537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagactccaaagagtgtgGttccaattattctcaggata	10	7	1	2			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr8:122641537G>T	ENST00000303924.4	-	2	581	c.44C>A	c.(43-45)aCc>aAc	p.T15N		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	15						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AAAGAGTGTGGTTCCAATTAT	0.378													False	0	False	8:122641537	0	T	122641537	G	T	122641537	3	4	37	1	0	0	0	0	1	0	0	0	7009	1261	44	3	1626	3	HAS2	8	122641537	Missense_Mutation	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08		122641537	23722485	19	3024											
TRAPPC9	83696	broad.mit.edu	37	chr8	141461429	141461429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaccaccacgagcagcGtctggtggtcctcagcacac	12	15	2	0	rs142839408		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr8:141461429G>A	ENST00000389328.4	-	2	352	c.338C>T	c.(337-339)aCg>aTg	p.T113M	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.T15M|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.T15M	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	15					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CACGAGCAGCGTCTGGTGGTC	0.537													False	0	False	8:141461429	0	A	141461429	G	A	141461429	3	1	37	1	0	0	0	0	1	0	0	0	16548	1145	40	1	3490	1	TRAPPC9	8	141461429	Missense_Mutation	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08	18819892	141461429	4902593	20	3025											
TRPM6	140803	broad.mit.edu	37	chr9	77386696	77386696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggaagtatttttccacGcactgctcctcaaaatcatg	6	11	3	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr9:77386696G>A	ENST00000451710.3	-	25	3696	c.3459C>T	c.(3457-3459)tgC>tgT	p.C1153C	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.C1153C|TRPM6_ENST00000360774.1_Silent_p.C1153C|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.C1148C|TRPM6_ENST00000449912.2_Silent_p.C1148C			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1153					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATTTTTCCACGCACTGCTCCT	0.358													False	0	False	9:77386696	0	A	77386696	G	A	77386696	2	1	37	1	0	0	0	0	0	0	0	1	16673	1079	38	1		1	TRPM6	9	77386696	Silent	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08		77386696	63826735	21	3026											
TGFBR1	7046	broad.mit.edu	37	chr9	101900288	101900288	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcctctagagaagaacgttCgtggttccgtgaggcagaga	13	9	1	4	rs111854391		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr9:101900288C>A	ENST00000374994.4	+	4	839	c.722C>A	c.(721-723)tCg>tAg	p.S241*	TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.S172*|TGFBR1_ENST00000374990.2_Nonsense_Mutation_p.S164*|TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.S245*	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	241	Protein kinase.		S -> L (in LDS1A).		activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	p.S241L(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GAAGAACGTTCGTGGTTCCGT	0.418													False	0	False	9:101900288	0	A	101900288	C	A	101900288	4	1	37	1	0	0	0	0	0	1	0	0	15903	893	31	3	736	3	TGFBR1	9	101900288	Nonsense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	24513592	101900288	39313143	22	3027											
PPAPDC3	84814	broad.mit.edu	37	chr9	134165668	134165668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatatctgtatgtccaagcGgctgggggtgtgcgctggcc	16	10	1	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr9:134165668G>A	ENST00000372264.3	+	1	588	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.R95Q	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	95						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		ATGTCCAAGCGGCTGGGGGTG	0.652													False	0	False	9:134165668	0	A	134165668	G	A	134165668	3	1	37	1	0	0	0	0	1	0	0	0	12365	1116	39	1	286	1	PPAPDC3	9	134165668	Missense_Mutation	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08	32265380	134165668	7047763	23	3028											
DIP2C	22982	broad.mit.edu	37	chr10	395301	395301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaaggccacgtggtcgcCgtcctgaaggtggcccctct	13	15	1	1			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr10:395301C>T	ENST00000280886.6	-	25	3166	c.3079G>A	c.(3079-3081)Ggc>Agc	p.G1027S		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1027						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACGTGGTCGCCGTCCTGAAGG	0.652													False	0	False	10:395301	0	T	395301	C	T	395301	3	4	37	1	0	0	0	0	1	0	0	0	4559	652	23	1	1643	1	DIP2C	10	395301	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08		395301	135139446	24	3029											
JMJD1C	221037	broad.mit.edu	37	chr10	64967951	64967956	+	In_Frame_Del	DEL	CTAAAC	CTAAAC	-													atgttctggtatcttgcctaCtaaaccttcactttctggtt					rs76933962		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	CTAAAC	CTAAAC	-	-	CTAAAC	CTAAAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr10:64967951_64967956delCTAAAC	ENST00000399262.2	-	10	3691_3696	c.3473_3478delGTTTAG	c.(3472-3480)ggtttagta>gta	p.GL1158del	JMJD1C_ENST00000399251.1_In_Frame_Del_p.GL939del|JMJD1C_ENST00000542921.1_In_Frame_Del_p.GL976del|JMJD1C_ENST00000402544.1_In_Frame_Del_p.GL939del	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1158					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.G939_L940delGL(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATCTTGCCTACTAAACCTTCACTTTC	0.422													False	1	True	10:64967951	0	-	64967956	CTAAAC	-	64967951	7	5	37	1	0	1	0	1	0	0	0	0	8000	565	20	0	4212	0	JMJD1C	10	64967951	In_Frame_Del	DEL	CTAAAC	TCGA-FB-A4P5-01A-11D-A26I-08	64572650	64967951	70566796	25	3030											
OR10AG1	282770	broad.mit.edu	37	chr11	55735162	55735162	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatcagtttccccatccTttgaaactgatgtggtttgg	9	8	1	3			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:55735162T>G	ENST00000312345.2	-	1	828	c.778A>C	c.(778-780)Agg>Cgg	p.R260R		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTCCCCATCCTTTGAAACTGA	0.383													False	0	True	11:55735162	0	G	55735162	T	G	55735162	2	3	37	1	0	0	0	0	0	0	0	1	10965	1608	56	4		4	OR10AG1	11	55735162	Silent	SNP	T	TCGA-FB-A4P5-01A-11D-A26I-08		55735162	79271354	26	3031											
TCN1	6947	broad.mit.edu	37	chr11	59629067	59629067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggttgacaacttcggcGgttgagtagttcccattgaa	12	7	0	3			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:59629067G>A	ENST00000257264.3	-	4	593	c.489C>T	c.(487-489)acC>acT	p.T163T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	163					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAACTTCGGCGGTTGAGTAGT	0.448													False	0	False	11:59629067	0	A	59629067	G	A	59629067	2	1	37	1	0	0	0	0	0	0	0	1	15788	1103	39	1		1	TCN1	11	59629067	Silent	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08	3893905	59629067	75377449	27	3032											
CCDC87	55231	broad.mit.edu	37	chr11	66360267	66360267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgggcctcaggaggcactcCcgctgctatcccgctgccgg	13	17	1	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:66360267C>T	ENST00000333861.3	-	1	287	c.220G>A	c.(220-222)Gga>Aga	p.G74R		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	74										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGAGGCACTCCCGCTGCTATC	0.657											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:66360267	0	T	66360267	C	T	66360267	3	4	37	1	0	0	0	0	1	0	0	0	2883	632	22	2	2333	2	CCDC87	11	66360267	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	6731200	66360267	68646249	28	3033											
LRP5	4041	broad.mit.edu	37	chr11	68115353	68115353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccaaccgccgggacgtaCggctggtggacgccggcgga	17	13	0	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr11:68115353C>T	ENST00000294304.7	+	2	236	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	44	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGGGACGTACGGCTGGTGGA	0.647													False	0	False	11:68115353	0	T	68115353	C	T	68115353	3	4	37	1	0	0	0	0	1	0	0	0	9022	527	19	1	136	1	LRP5	11	68115353	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	1755086	68115353	66891163	29	3034											
PHLDA1	22822	broad.mit.edu	37	chr12	76424934	76424934	+	Frame_Shift_Del	DEL	C	C	-													tgttgctgctgctgctgctgCtgttgctgctgctgctgctg							TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr12:76424934delC	ENST00000266671.5	-	1	2778	c.588delG	c.(586-588)cagfs	p.Q204fs	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Frame_Shift_Del_p.Q63fs			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	204	PH.|Poly-Gln.			Missing (in Ref. 1; AAF64165, 2; CAA90576 and 3).	apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				gctgctgctgctgttgctgct	0.647													False	1	True	12:76424934	0	-	76424934	C	-	76424934	7	5	37	1	0	1	0	1	0	0	0	0	11917	796	28	0	621	0	PHLDA1	12	76424934	Frame_Shift_Del	DEL	C	TCGA-FB-A4P5-01A-11D-A26I-08		76424934	57426961	30	3035	31	2									
PHLDA1	22822	broad.mit.edu	37	chr12	76424936	76424940	+	Frame_Shift_Del	DEL	GTTGC	GTTGC	-													ttgctgctgctgctgctgctGttgctgctgctgctgctggt					rs57875368	by1000genomes	TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	GTTGC	GTTGC	-	-	GTTGC	GTTGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr12:76424936_76424940delGTTGC	ENST00000266671.5	-	1	2772_2776	c.582_586delGCAAC	c.(580-588)cagcaacagfs	p.QQQ194fs	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Frame_Shift_Del_p.QQQ53fs			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	194	PH.|Poly-Gln.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				tgctgctgctgttgctgctgctgct	0.649													False	1	True	12:76424936	0	-	76424940	GTTGC	-	76424936	7	5	37	1	0	1	0	1	0	0	0	0	11917	1386	48	0	623	0	PHLDA1	12	76424936	Frame_Shift_Del	DEL	GTTGC	TCGA-FB-A4P5-01A-11D-A26I-08	2	76424936	57426959	31	3036	31	2									
CCDC60	160777	broad.mit.edu	37	chr12	119773039	119773039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccaactcgggggctgtcCggcccttttatgcctcggag	12	16	0	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr12:119773039C>T	ENST00000327554.2	+	1	523	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	CCDC60_ENST00000536742.1_Missense_Mutation_p.R20W|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000539847.1_Missense_Mutation_p.R20W	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	20										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGGGCTGTCCGGCCCTTTTA	0.502													False	0	False	12:119773039	0	T	119773039	C	T	119773039	3	4	37	1	0	0	0	0	1	0	0	0	2852	643	23	1	60	1	CCDC60	12	119773039	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	43348103	119773039	14078856	32	3037											
COX6A1	1337	broad.mit.edu	37	chr12	120876314	120876314	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcctacccccatctccgcaTcaggaccaaggtacgccctt	7	19	2	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr12:120876314T>G	ENST00000229379.2	+	2	273	c.236T>G	c.(235-237)aTc>aGc	p.I79S	AL021546.6_ENST00000551806.1_Missense_Mutation_p.H55Q	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	79					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATCTCCGCATCAGGACCAAG	0.557													False	0	False	12:120876314	0	G	120876314	T	G	120876314	3	3	37	1	0	0	0	0	1	0	0	0	3797	1435	50	4	242	4	COX6A1	12	120876314	Missense_Mutation	SNP	T	TCGA-FB-A4P5-01A-11D-A26I-08	1103275	120876314	12975581	33	3038											
TRPC4	7223	broad.mit.edu	37	chr13	38320594	38320594	+	Splice_Site	DEL	T	T	-													caaggagtataggaggcaccTaaaaaaaaaaaaggcagagg					rs80164537		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr13:38320594delT	ENST00000379705.3	-	3	1236		c.e3-2		TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Splice_Site|TRPC4_ENST00000358477.2_Splice_Site|TRPC4_ENST00000379673.2_Splice_Site|TRPC4_ENST00000447043.1_Splice_Site|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Splice_Site|TRPC4_ENST00000379681.3_Splice_Site			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4						axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGGAGGCACCTAAAAAAAAAA	0.338													False	1	True	13:38320594	0	-	38320594	T	-	38320594	8	5	37	1	0	1	0	1	0	0	1	0	16663	1536	53	0	2607	0	TRPC4	13	38320594	Splice_Site	DEL	T	TCGA-FB-A4P5-01A-11D-A26I-08		38320594	76849284	34	3039											
FREM2	341640	broad.mit.edu	37	chr13	39357268	39357268	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagatgttggtgagctgttCattcccatcaggaggagcgg	15	7	2	2			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr13:39357268C>A	ENST00000280481.7	+	5	5919	c.5703C>A	c.(5701-5703)ttC>ttA	p.F1901L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1901	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGAGCTGTTCATTCCCATCA	0.448													False	0	False	13:39357268	0	A	39357268	C	A	39357268	3	1	37	1	0	0	0	0	1	0	0	0	6087	825	29	3	5721	3	FREM2	13	39357268	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	1036674	39357268	75812610	35	3040											
DGKH	160851	broad.mit.edu	37	chr13	42774011	42774011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgggagttattacagagatCgtacaagaatttagaacaaa	9	6	0	3			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr13:42774011C>T	ENST00000261491.5	+	20	2480	c.2459C>T	c.(2458-2460)tCg>tTg	p.S820L	DGKH_ENST00000538674.1_Missense_Mutation_p.S575L|DGKH_ENST00000536612.1_Missense_Mutation_p.S684L|DGKH_ENST00000379274.2_Missense_Mutation_p.S684L|DGKH_ENST00000540693.1_Missense_Mutation_p.S820L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.S820L	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTACAGAGATCGTACAAGAAT	0.333													False	0	False	13:42774011	0	T	42774011	C	T	42774011	3	4	37	1	0	0	0	0	1	0	0	0	4500	893	31	1	2537	1	DGKH	13	42774011	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	3416743	42774011	72395867	36	3041											
SPSB3	90864	broad.mit.edu	37	chr16	1828584	1828584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggatggcggcagcgtggaGtactcggggtcggagtccga	19	8	0	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr16:1828584G>A	ENST00000566339.1	-	3	486	c.156C>T	c.(154-156)taC>taT	p.Y52Y	SPSB3_ENST00000301717.4_Silent_p.Y52Y	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	52					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GCAGCGTGGAGTACTCGGGGT	0.652													False	0	False	16:1828584	0	A	1828584	G	A	1828584	2	1	37	1	0	0	0	0	0	0	0	1	15196	1024	36	2		2	SPSB3	16	1828584	Silent	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08		1828584	88526169	37	3042											
KCTD11	147040	broad.mit.edu	37	chr17	7256580	7256580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcacttctctgctcgcCggggaccccatcactatgag	11	14	2	1	rs35280612		TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:7256580C>T	ENST00000333751.3	+	1	1373	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	107					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CTCTGCTCGCCGGGGACCCCA	0.642													False	0	True	17:7256580	0	T	7256580	C	T	7256580	3	4	37	1	0	0	0	0	1	0	0	0	8148	643	23	1	321	1	KCTD11	17	7256580	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08		7256580	73938630	38	3043											
RCVRN	5957	broad.mit.edu	37	chr17	9808122	9808122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggggagactgaccatgaCgatctccagcacttcattct	10	11	3	4			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:9808122C>T	ENST00000226193.5	-	1	816	c.376G>A	c.(376-378)Gtc>Atc	p.V126I		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	126	EF-hand 3.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CTGACCATGACGATCTCCAGC	0.642													False	0	False	17:9808122	0	T	9808122	C	T	9808122	3	4	37	1	0	0	0	0	1	0	0	0	13265	536	19	1	238	1	RCVRN	17	9808122	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	2551542	9808122	71387088	39	3044											
CACNB1	782	broad.mit.edu	37	chr17	37339981	37339981	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccaccttgggagaggtgatCttgatgtaaacaatgatggg	13	7	1	4			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:37339981C>T	ENST00000394303.3	-	11	1242	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	CACNB1_ENST00000394310.3_Silent_p.K345K|CACNB1_ENST00000344140.5_Silent_p.K390K	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	345					axon guidance	voltage-gated calcium channel complex		p.K390N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GAGAGGTGATCTTGATGTAAA	0.567													False	0	False	17:37339981	0	T	37339981	C	T	37339981	2	4	37	1	0	0	0	0	0	0	0	1	2572	912	32	2		2	CACNB1	17	37339981	Silent	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	27531859	37339981	43855229	40	3045											
CA10	56934	broad.mit.edu	37	chr17	50008436	50008436	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgttgactggcgactgccGtttccccacagagcaaagat	10	11	0	3			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:50008436G>A	ENST00000570565.1	-	0	210				CA10_ENST00000451037.2_Missense_Mutation_p.R65W|CA10_ENST00000340813.6_Missense_Mutation_p.R71W|CA10_ENST00000285273.4_Missense_Mutation_p.R65W|CA10_ENST00000442502.2_Missense_Mutation_p.R65W			Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGCGACTGCCGTTTCCCCACA	0.473													False	0	True	17:50008436	0	A	50008436	G	A	50008436	1	1	37	1	0	0	0	0	0	0	0	0	2531	1144	40	1		1	CA10	17	50008436	Translation_Start_Site	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08	12668455	50008436	31186774	41	3046											
USP32	84669	broad.mit.edu	37	chr17	58292024	58292024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatatcttcctctttaatgCgcagcctttgagatagatat	7	9	2	2			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:58292024C>T	ENST00000300896.4	-	17	2173	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	USP32_ENST00000592339.1_Missense_Mutation_p.R330H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	660					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTCTTTAATGCGCAGCCTTTG	0.408													False	0	False	17:58292024	0	T	58292024	C	T	58292024	3	4	37	1	0	0	0	0	1	0	0	0	17147	768	27	1	2907	1	USP32	17	58292024	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	8283588	58292024	22903186	42	3047											
ITGB4	3691	broad.mit.edu	37	chr17	73748594	73748594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactacgacagcttccttatGtacagcgatgacgttctacg	9	11	1	1			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:73748594G>A	ENST00000200181.3	+	32	4231	c.4044G>A	c.(4042-4044)atG>atA	p.M1348I	ITGB4_ENST00000579662.1_Missense_Mutation_p.M1348I|ITGB4_ENST00000450894.3_Missense_Mutation_p.M1348I|ITGB4_ENST00000449880.2_Missense_Mutation_p.M1348I|ITGB4_ENST00000339591.3_Missense_Mutation_p.M1348I|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1348					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTCCTTATGTACAGCGATG	0.627													False	0	False	17:73748594	0	A	73748594	G	A	73748594	3	1	37	1	0	0	0	0	1	0	0	0	7947	1377	48	2	4166	2	ITGB4	17	73748594	Missense_Mutation	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08	15456570	73748594	7446616	43	3048											
SEPT9	10801	broad.mit.edu	37	chr17	75398245	75398245	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactgtggccagctccaccCagaaattccaggacctgggc	10	16	0	1			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr17:75398245C>T	ENST00000329047.8	+	2	939	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000423034.2_Nonsense_Mutation_p.Q54*|SEPT9_ENST00000590294.1_Nonsense_Mutation_p.Q43*|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000591198.1_Nonsense_Mutation_p.Q42*|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000427177.1_Nonsense_Mutation_p.Q61*	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	61					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CAGCTCCACCCAGAAATTCCA	0.627													False	0	True	17:75398245	0	T	75398245	C	T	75398245	4	4	37	1	0	0	0	0	0	1	0	0	14152	595	21	2	276	2	SEPT9	17	75398245	Nonsense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	1649651	75398245	5796965	44	3049											
SERPINB11	89778	broad.mit.edu	37	chr18	61377522	61377522	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agataacatcttcttttcttCgctgagtctgctttatgctc	6	10	4	2			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr18:61377522C>T	ENST00000544088.1	+	0	157				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TTCTTTTCTTCGCTGAGTCTG	0.428													False	0	False	18:61377522	0	T	61377522	C	T	61377522	1	4	37	0	1	0	0	0	0	0	0	0	14179	893	31	1		1	SERPINB11	18	61377522	RNA	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08		61377522	16699726	45	3050											
ZNF561	93134	broad.mit.edu	37	chr19	9721440	9721440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccagtgtgaatttgaatGtgatcattaaggcatgagga	11	4	1	4			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:9721440G>A	ENST00000302851.3	-	6	1260	c.897C>T	c.(895-897)caC>caT	p.H299H	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Silent_p.H163H|ZNF561_ENST00000424629.1_Silent_p.H230H	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GAATTTGAATGTGATCATTAA	0.373													False	0	False	19:9721440	0	A	9721440	G	A	9721440	2	1	37	1	0	0	0	0	0	0	0	1	18075	1368	48	2		2	ZNF561	19	9721440	Silent	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08		9721440	49407543	46	3051											
ZNF430	80264	broad.mit.edu	37	chr19	21239860	21239860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taactggttctcaacccttaCtagacacagaagaattcata	5	10	2	3			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:21239860C>T	ENST00000261560.5	+	5	927	c.746C>T	c.(745-747)aCt>aTt	p.T249I		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCAACCCTTACTAGACACAGA	0.348													False	0	False	19:21239860	0	T	21239860	C	T	21239860	3	4	37	1	0	0	0	0	1	0	0	0	17987	565	20	2	764	2	ZNF430	19	21239860	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	11518420	21239860	37889123	47	3052											
ZNF208	7757	broad.mit.edu	37	chr19	22171675	22171675	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcattgccactcctccagagAgaattctatggccacatccc	7	15	1	2			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:22171675A>T	ENST00000397126.4	-	2	188	c.40T>A	c.(40-42)Tct>Act	p.S14T	ZNF208_ENST00000601773.1_Missense_Mutation_p.S14T|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000599916.1_Missense_Mutation_p.S14T	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCCTCCAGAGAGAATTCTATG	0.403													False	0	True	19:22171675	0	T	22171675	A	T	22171675	3	4	37	1	0	0	0	0	1	0	0	0	17849	304	11	5	3814	5	ZNF208	19	22171675	Missense_Mutation	SNP	A	TCGA-FB-A4P5-01A-11D-A26I-08	931815	22171675	36957308	48	3053											
ZNF616	90317	broad.mit.edu	37	chr19	52619638	52619638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccagtgtgactccttTggtgtcttacaaaatatgaa	8	8	2	2			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chr19:52619638T>C	ENST00000600228.1	-	4	1040	c.779A>G	c.(778-780)cAa>cGa	p.Q260R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTGACTCCTTTGGTGTCTTAC	0.383													False	0	True	19:52619638	0	C	52619638	T	C	52619638	3	2	37	1	0	0	0	0	1	0	0	0	18124	1812	63	4	1570	4	ZNF616	19	52619638	Missense_Mutation	SNP	T	TCGA-FB-A4P5-01A-11D-A26I-08	30447963	52619638	6509345	49	3054											
MED14	9282	broad.mit.edu	37	chrX	40573077	40573077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatctgtggttacaagcCgatgtctaagaatctgattc	10	7	3	3			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:40573077C>T	ENST00000324817.1	-	5	723	c.605G>A	c.(604-606)cGg>cAg	p.R202Q		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	202	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTTACAAGCCGATGTCTAAG	0.383													False	0	False	X:40573077	0	T	40573077	C	T	40573077	3	4	37	1	0	0	0	0	1	0	0	0	9499	652	23	1	3867	1	MED14	23	40573077	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08		40573077	114697483	50	3055											
TBC1D25	4943	broad.mit.edu	37	chrX	48418156	48418156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaattcatccgcagcaCggtcctcaaggatgtactgc	10	13	2	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:48418156C>T	ENST00000376771.4	+	6	1201	c.860C>T	c.(859-861)aCg>aTg	p.T287M	TBC1D25_ENST00000537536.1_Missense_Mutation_p.T33M	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	287	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ATCCGCAGCACGGTCCTCAAG	0.627													False	0	False	X:48418156	0	T	48418156	C	T	48418156	3	4	37	1	0	0	0	0	1	0	0	0	15697	536	19	1	882	1	TBC1D25	23	48418156	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	7845079	48418156	106852404	51	3056											
TFE3	7030	broad.mit.edu	37	chrX	48896768	48896768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcggcggcctgttcccgaCgctcacgcctctcctgctcc	10	21	2	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:48896768C>T	ENST00000315869.7	-	3	657	c.398G>A	c.(397-399)cGt>cAt	p.R133H	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	133					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CTGTTCCCGACGCTCACGCCT	0.662			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								False	0	False	X:48896768	0	T	48896768	C	T	48896768	3	4	37	1	0	0	0	0	1	0	0	0	15882	536	19	1	1361	1	TFE3	23	48896768	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	478612	48896768	106373792	52	3057											
SLC7A3	84889	broad.mit.edu	37	chrX	70146745	70146745	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcaatgaggaacaaacaTagacaatttggccagagagt	10	7	0	3			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:70146745T>C	ENST00000374299.3	-	9	1577	c.1433A>G	c.(1432-1434)tAt>tGt	p.Y478C	SLC7A3_ENST00000298085.4_Missense_Mutation_p.Y478C			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	478					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGAACAAACATAGACAATTTG	0.488													False	0	True	X:70146745	0	C	70146745	T	C	70146745	3	2	37	1	0	0	0	0	1	0	0	0	14778	1406	49	4	442	4	SLC7A3	23	70146745	Missense_Mutation	SNP	T	TCGA-FB-A4P5-01A-11D-A26I-08	21249977	70146745	85123815	53	3058											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177404	89177404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttatcaatgctcgcagacGcattctcccggatatgcttc	8	12	2	1			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:89177404G>A	ENST00000561129.2	+	1	450	c.320G>A	c.(319-321)cGc>cAc	p.R107H	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R107H			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	107						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCTCGCAGACGCATTCTCCCG	0.493													False	0	False	X:89177404	0	A	89177404	G	A	89177404	3	1	37	1	0	0	0	0	1	0	0	0	15909	1087	38	1	322	1	TGIF2LX	23	89177404	Missense_Mutation	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08	19030659	89177404	66093156	54	3059											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299285	125299285	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtcgcgggagccgctcacaGctacggtgtcactcagccag	13	15	3	0			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:125299285G>C	ENST00000538699.1	-	2	703	c.623C>G	c.(622-624)gCt>gGt	p.A208G	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A208G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	208										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCGCTCACAGCTACGGTGTC	0.647													False	0	False	X:125299285	0	C	125299285	G	C	125299285	3	2	37	1	0	0	0	0	1	0	0	0	4290	971	34	5	772	5	DCAF12L2	23	125299285	Missense_Mutation	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08	36121881	125299285	29971275	55	3060											
FRMD7	90167	broad.mit.edu	37	chrX	131216469	131216469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccgaaagcctgaagaaaGcatggtattccacacaagtc	8	11	0	2			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:131216469G>A	ENST00000298542.4	-	9	1002	c.827C>T	c.(826-828)gCt>gTt	p.A276V	FRMD7_ENST00000370879.1_Missense_Mutation_p.A156V|FRMD7_ENST00000464296.1_Missense_Mutation_p.A261V	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	276	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTGAAGAAAGCATGGTATTC	0.468													False	0	True	X:131216469	0	A	131216469	G	A	131216469	3	1	37	1	0	0	0	0	1	0	0	0	6097	971	34	2	1333	2	FRMD7	23	131216469	Missense_Mutation	SNP	G	TCGA-FB-A4P5-01A-11D-A26I-08	5917184	131216469	24054091	56	3061											
PASD1	139135	broad.mit.edu	37	chrX	150840063	150840063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcagccaaacacattaCgccacgttgtcattcctgat	7	12	1	2			TCGA-FB-A4P5-01A-11D-A26I-08	TCGA-FB-A4P5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3c284834-b0e8-490a-a7c7-e7b880122282	e9984562-78e0-444d-92ca-64a3135fb628	g.chrX:150840063C>T	ENST00000370357.4	+	13	1494	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	417						nucleus	signal transducer activity	p.R417C(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AAACACATTACGCCACGTTGT	0.498													False	0	False	X:150840063	0	T	150840063	C	T	150840063	3	4	37	1	0	0	0	0	1	0	0	0	11539	536	19	1	1295	1	PASD1	23	150840063	Missense_Mutation	SNP	C	TCGA-FB-A4P5-01A-11D-A26I-08	19623594	150840063	4430497	57	3062											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	38	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-FB-A4P6-01A-12D-A26I-08		22987385	226263236	1	3063											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	38	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-FB-A4P6-01A-12D-A26I-08	129684130	152671515	96579106	2	3064											
HAAO	23498	broad.mit.edu	37	chr2	42996988	42996988	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagggaatggtggctccttGagcagctggtctgcacccac	14	11	1	2			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:42996988G>T	ENST00000294973.6	-	7	550	c.495C>A	c.(493-495)ctC>ctA	p.L165L		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	165	Linker (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	p.L165L(1)		breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						GTGGCTCCTTGAGCAGCTGGT	0.637													False	0	False	2:42996988	0	T	42996988	G	T	42996988	2	4	38	1	0	0	0	0	0	0	0	1	6984	1277	45	3		3	HAAO	2	42996988	Silent	SNP	G	TCGA-FB-A4P6-01A-12D-A26I-08		42996988	200202385	3	3065											
SLC5A7	60482	broad.mit.edu	37	chr2	108627182	108627183	+	Frame_Shift_Ins	INS	-	-	TTCTG													ttcttgtcaaaaatgaaaatINSattaaattagatgaacttgc							TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:108627182_108627183insTTCTG	ENST00000264047.2	+	9	1884_1885	c.1608_1609insTTCTG	c.(1609-1611)attfs	p.I537fs	SLC5A7_ENST00000409059.1_Frame_Shift_Ins_p.I537fs|SLC5A7_ENST00000540517.1_Frame_Shift_Ins_p.I432fs	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	537					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AAAATGAAAATATTAAATTAGA	0.386													False	0	False	2:108627182	0	TTCTG	108627183	-	TTCTG	108627182	7	5	38	1	0	1	1	0	0	0	0	0	14750	1403	49	0	1638	0	SLC5A7	2	108627182	Frame_Shift_Ins	INS	-	TCGA-FB-A4P6-01A-12D-A26I-08	65630194	108627182	134572191	4	3066											
NEB	4703	broad.mit.edu	37	chr2	152346579	152346580	+	Frame_Shift_Ins	INS	-	-	ATATGTGCAAA													tgggagctctgtggtttttgINScatgtttgtaagctgaaaaa							TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:152346579_152346580insATATGTGCAAA	ENST00000604864.1	-	179	25308_25309	c.25309_25310insTTTGCACATAT	c.(25309-25311)gcafs	p.A8437fs	NEB_ENST00000397345.3_Frame_Shift_Ins_p.A8437fs|NEB_ENST00000509223.2_Frame_Shift_Ins_p.A350fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.A8437fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.A8437fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.A6581fs|RIF1_ENST00000457745.1_Intron|NEB_ENST00000172853.10_Frame_Shift_Ins_p.A6581fs|NEB_ENST00000397336.2_Frame_Shift_Ins_p.A412fs			P20929	NEBU_HUMAN	nebulin	6581					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGGTTTTTGCATGTTTGTAA	0.411													False	0	False	2:152346579	0	ATATGTGCAAA	152346580	-	ATATGTGCAAA	152346579	7	5	38	1	0	1	1	0	0	0	0	0	10370	1319	46	0	275	0	NEB	2	152346579	Frame_Shift_Ins	INS	-	TCGA-FB-A4P6-01A-12D-A26I-08	43719397	152346579	90852794	5	3067											
CSRNP3	80034	broad.mit.edu	37	chr2	166535613	166535615	+	In_Frame_Del	DEL	GAC	GAC	-													gcttggcacctagtgagtcaGacgaggaggaggaggaagaa					rs61747278	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:166535613_166535615delGAC	ENST00000409420.1	+	5	1454_1456	c.1204_1206delGAC	c.(1204-1206)gacdel	p.D402del	CSRNP3_ENST00000342316.4_In_Frame_Del_p.D370del|CSRNP3_ENST00000314499.7_In_Frame_Del_p.D370del			Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	370					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TAGTGAGTCAGACgaggaggagg	0.537													False	1	False	2:166535613	0	-	166535615	GAC	-	166535613	7	5	38	1	0	1	0	1	0	0	0	0	3990	942	33	0	1122	0	CSRNP3	2	166535613	In_Frame_Del	DEL	GAC	TCGA-FB-A4P6-01A-12D-A26I-08	14189034	166535613	76663760	6	3068											
MLPH	79083	broad.mit.edu	37	chr2	238449105	238449107	+	In_Frame_Del	DEL	GAA	GAA	-													agacctcgtccgaggaggagGaagccaaggacgaaaaggca					rs2271809	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:238449105_238449107delGAA	ENST00000410032.1	+	8	1183_1185	c.790_792delGAA	c.(790-792)gaadel	p.E264del	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_In_Frame_Del_p.E339del|MLPH_ENST00000338530.4_In_Frame_Del_p.E379del|MLPH_ENST00000264605.3_In_Frame_Del_p.E407del|MLPH_ENST00000445024.2_In_Frame_Del_p.E407del			Q9BV36	MELPH_HUMAN	melanophilin	259							metal ion binding	p.E407E(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CGAGGAGGAGGAAGCCAAGGACG	0.621													False	1	True	2:238449105	0	-	238449107	GAA	-	238449105	7	5	38	1	0	1	0	1	0	0	0	0	9700	1175	41	0	1253	0	MLPH	2	238449105	In_Frame_Del	DEL	GAA	TCGA-FB-A4P6-01A-12D-A26I-08	71913492	238449105	4750268	7	3069											
EIF4A2	1974	broad.mit.edu	37	chr3	186505331	186505331	+	Frame_Shift_Del	DEL	C	C	-													gatgttatcatgagggaattCcggtcagggtcaagtcgtgt							TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr3:186505331delC	ENST00000323963.5	+	9	1021	c.957delC	c.(955-957)ttcfs	p.F319fs	EIF4A2_ENST00000356531.5_Frame_Shift_Del_p.F224fs|EIF4A2_ENST00000440191.2_Frame_Shift_Del_p.F320fs			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	319	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGAGGGAATTCCGGTCAGGGT	0.403			T	BCL6	NHL								False	2	False	3:186505331	0	-	186505331	C	-	186505331	7	5	38	1	0	1	0	1	0	0	0	0	5057	854	30	0	991	0	EIF4A2	3	186505331	Frame_Shift_Del	DEL	C	TCGA-FB-A4P6-01A-12D-A26I-08		186505331	11517099	8	3070											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	38	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-FB-A4P6-01A-12D-A26I-08		40434705	150719571	9	3071											
TNIP3	79931	broad.mit.edu	37	chr4	122078300	122078317	+	In_Frame_Del	DEL	TCTCTGCCTGTCGTCCTT	TCTCTGCCTGTCGTCCTT	-													tcgcgctgcctgtcgtcctcTctctgcctgtcgtcctttct					rs10000692	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	TCTCTGCCTGTCGTCCTT	TCTCTGCCTGTCGTCCTT	-	-	TCTCTGCCTGTCGTCCTT	TCTCTGCCTGTCGTCCTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr4:122078300_122078317delTCTCTGCCTGTCGTCCTT	ENST00000057513.3	-	4	509_526	c.295_312delAAGGACGACAGGCAGAGA	c.(295-312)aaggacgacaggcagagadel	p.KDDRQR99del	TNIP3_ENST00000507879.1_In_Frame_Del_p.KDDRQR169del|TNIP3_ENST00000454328.1_In_Frame_Del_p.KDDRQR99del|TNIP3_ENST00000509841.1_In_Frame_Del_p.KDDRQR176del	NM_024873.5	NP_079149.3	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	99			K -> E (in dbSNP:rs10000692).					p.D101N(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TGTCGTCCTCTCTCTGCCTGTCGTCCTTTCTCTGCCTC	0.624													False	1	False	4:122078300	0	-	122078317	TCTCTGCCTGTCGTCCTT	-	122078300	7	5	38	1	0	1	0	1	0	0	0	0	16398	1548	54	0	697	0	TNIP3	4	122078300	In_Frame_Del	DEL	TCTCTGCCTGTCGTCCTT	TCGA-FB-A4P6-01A-12D-A26I-08	81643595	122078300	69075976	10	3072											
KLHL2	11275	broad.mit.edu	37	chr4	166235300	166235301	+	Frame_Shift_Ins	INS	-	-	AGAGATTTATATCATAT													acaggttgcagatatgaacaINStgtgcagaagaaatgcaggt							TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr4:166235300_166235301insAGAGATTTATATCATAT	ENST00000226725.6	+	13	1850_1851	c.1591_1592insAGAGATTTATATCATAT	c.(1591-1593)atgfs	p.M531fs	KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000538127.1_Frame_Shift_Ins_p.M443fs|KLHL2_ENST00000514860.1_Frame_Shift_Ins_p.M535fs|KLHL2_ENST00000506761.1_Frame_Shift_Ins_p.M365fs|KLHL2_ENST00000421009.2_Frame_Shift_Ins_p.M434fs	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	531					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGATATGAACATGTGCAGAAGA	0.356													False	0	False	4:166235300	0	AGAGATTTATATCATAT	166235301	-	AGAGATTTATATCATAT	166235300	7	5	38	1	0	1	1	0	0	0	0	0	8424	217	8	0	1683	0	KLHL2	4	166235300	Frame_Shift_Ins	INS	-	TCGA-FB-A4P6-01A-12D-A26I-08	44157000	166235300	24918976	11	3073											
CSPP1	79848	broad.mit.edu	37	chr8	68062082	68062082	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacccagatgcaagaacataTgaagataaaagggctgttgt	10	6	0	4			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr8:68062082T>C	ENST00000262210.5	+	16	2056	c.2025T>C	c.(2023-2025)taT>taC	p.Y675Y	CSPP1_ENST00000412460.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	710	Poly-Gly.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAAGAACATATGAAGATAAAA	0.358													False	0	False	8:68062082	0	C	68062082	T	C	68062082	2	2	38	1	0	0	0	0	0	0	0	1	3987	1471	51	4		4	CSPP1	8	68062082	Silent	SNP	T	TCGA-FB-A4P6-01A-12D-A26I-08		68062082	78301940	12	3074											
ENTPD2	954	broad.mit.edu	37	chr9	139944753	139944754	+	Frame_Shift_Ins	INS	-	-	CCGCCTGCCCT													accacaaagttcccagccacINStgggggctggaagaccccat							TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr9:139944753_139944754insCCGCCTGCCCT	ENST00000355097.2	-	6	1058_1059	c.1011_1012insAGGGCAGGCGG	c.(1009-1014)ccagtgfs	p.V338fs	ENTPD2_ENST00000312665.5_Frame_Shift_Ins_p.V338fs	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	338						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTCCCAGCCACTGGGGGCTGGA	0.614											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	9:139944753	0	CCGCCTGCCCT	139944754	-	CCGCCTGCCCT	139944753	7	5	38	1	0	1	1	0	0	0	0	0	5171	565	20	0	491	0	ENTPD2	9	139944753	Frame_Shift_Ins	INS	-	TCGA-FB-A4P6-01A-12D-A26I-08		139944753	1268678	13	3075											
OR52D1	390066	broad.mit.edu	37	chr11	5510540	5510541	+	Frame_Shift_Ins	INS	-	-	GGCT													cactgtcaatattgtctatgINSggctaactgtggctctgctg					rs72233167	by1000genomes	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr11:5510540_5510541insGGCT	ENST00000322641.5	+	1	626_627	c.604_605insGGCT	c.(604-606)gggfs	p.-203fs	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTGTCTATGGGCTAACTGTG	0.49													False	1	True	11:5510540	0	GGCT	5510541	-	GGCT	5510540	7	5	38	1	0	1	1	0	0	0	0	0	11182	1348	47	0	606	0	OR52D1	11	5510540	Frame_Shift_Ins	INS	-	TCGA-FB-A4P6-01A-12D-A26I-08		5510540	129495976	14	3076											
SIK3	23387	broad.mit.edu	37	chr11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-													ggtattcttgctgttgctgcTgttgctgctgctgctgccgt					rs539858	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596													False	1	True	11:116729011	0	-	116729013	TGT	-	116729011	7	5	38	1	0	1	0	1	0	0	0	0	14400	1580	55	0	955	0	SIK3	11	116729011	In_Frame_Del	DEL	TGT	TCGA-FB-A4P6-01A-12D-A26I-08	111218471	116729011	18277505	15	3077											
TYRO3	7301	broad.mit.edu	37	chr15	41860561	41860562	+	Splice_Site	INS	-	-	A													tcaagacaatggaacccaggINStaagacagaaccctcccctc							TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr15:41860561_41860562insA	ENST00000263798.3	+	8	1331		c.e8+1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGAACCCAGGTAAGACAGAAC	0.53													False	0	False	15:41860561	0	A	41860562	-	A	41860561	8	5	38	1	0	1	1	0	0	0	1	0	16898	1275	44	0	1138	0	TYRO3	15	41860561	Splice_Site	INS	-	TCGA-FB-A4P6-01A-12D-A26I-08		41860561	60670831	16	3078											
LRRC30	339291	broad.mit.edu	37	chr18	7231272	7231272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcggtccctgctgaagCggggcatgcaccacgtcagc	13	16	1	1			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr18:7231272C>T	ENST00000383467.2	+	1	150	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	46										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGCTGAAGCGGGGCATGCA	0.597													False	0	True	18:7231272	0	T	7231272	C	T	7231272	3	4	38	1	0	0	0	0	1	0	0	0	9047	759	27	1	138	1	LRRC30	18	7231272	Missense_Mutation	SNP	C	TCGA-FB-A4P6-01A-12D-A26I-08		7231272	70845976	17	3079											
TMEM91	641649	broad.mit.edu	37	chr19	41888851	41888861	+	Frame_Shift_Del	DEL	GGGGACTGGGC	GGGGACTGGGC	-													gtctgtgtgtgggacttggaGgggactgggcataaaagaga							TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GGGGACTGGGC	GGGGACTGGGC	-	-	GGGGACTGGGC	GGGGACTGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr19:41888851_41888861delGGGGACTGGGC	ENST00000539627.1	+	3	706_716	c.385_395delGGGGACTGGGC	c.(385-396)ggggactgggcafs	p.GDWA129fs	TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000392002.2_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000542945.1_Frame_Shift_Del_p.GDWA129fs|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000356385.4_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000604123.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron					transmembrane protein 91											lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGACTTGGAGGGGACTGGGCATAAAAGAGA	0.531													False	1	False	19:41888851	0	-	41888861	GGGGACTGGGC	-	41888851	7	5	38	1	0	1	0	1	0	0	0	0	16302	1015	35	0		0	TMEM91	19	41888851	Frame_Shift_Del	DEL	GGGGACTGGGC	TCGA-FB-A4P6-01A-12D-A26I-08		41888851	17240132	18	3080											
KCNA7	3743	broad.mit.edu	37	chr19	49573363	49573365	+	In_Frame_Del	DEL	GGA	GGA	-													tccctgggggtgcccagagtGgaggtggtagctcaggtacc					rs79563011		TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GGA	GGA	-	-	GGA	GGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr19:49573363_49573365delGGA	ENST00000221444.1	-	2	1681_1683	c.1326_1328delTCC	c.(1324-1329)cctcca>cca	p.442_443PP>P		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	442						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		TGCCCAGAGTGGAGGTGGTAGCT	0.631													False	1	False	19:49573363	0	-	49573365	GGA	-	49573363	7	5	38	1	0	1	0	1	0	0	0	0	8058	1348	47	0	46	0	KCNA7	19	49573363	In_Frame_Del	DEL	GGA	TCGA-FB-A4P6-01A-12D-A26I-08	7684512	49573363	9555620	19	3081											
PCNT	5116	broad.mit.edu	37	chr21	47819624	47819625	+	Frame_Shift_Ins	INS	-	-	AATACAAT													agaaattaaacgtctggaggINSagatgaacatcaacatcagg							TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr21:47819624_47819625insAATACAAT	ENST00000359568.5	+	25	4812_4813	c.4705_4706insAATACAAT	c.(4705-4707)gagfs	p.-1569fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin						cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACGTCTGGAGGAGATGAACATC	0.411													False	0	False	21:47819624	0	AATACAAT	47819625	-	AATACAAT	47819624	7	5	38	1	0	1	1	0	0	0	0	0	11658	1175	41	0	4803	0	PCNT	21	47819624	Frame_Shift_Ins	INS	-	TCGA-FB-A4P6-01A-12D-A26I-08		47819624	310271	20	3082	32	2									
PCNT	5116	broad.mit.edu	37	chr21	47819626	47819627	+	Frame_Shift_Ins	INS	-	-	AATGTTTT													aaattaaacgtctggaggagINSatgaacatcaacatcaggaa							TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr21:47819626_47819627insAATGTTTT	ENST00000359568.5	+	25	4814_4815	c.4707_4708insAATGTTTT	c.(4708-4710)atgfs	p.M1570fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1570					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTCTGGAGGAGATGAACATCAA	0.411													False	0	False	21:47819626	0	AATGTTTT	47819627	-	AATGTTTT	47819626	7	5	38	1	0	1	1	0	0	0	0	0	11658	933	33	0	4805	0	PCNT	21	47819626	Frame_Shift_Ins	INS	-	TCGA-FB-A4P6-01A-12D-A26I-08	2	47819626	310269	21	3083	32	2									
RPS6KA1	6195	broad.mit.edu	37	chr1	26872417	26872417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggatcccaagccgccccGtctgcggctctgggccctga	13	17	2	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:26872417G>A	ENST00000531382.1	+	1	75	c.26G>A	c.(25-27)cGt>cAt	p.R9H	RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374168.2_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000374166.4_Intron	NM_001006665.1	NP_001006666.1	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	0					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AAGCCGCCCCGTCTGCGGCTC	0.716													False	0	True	1:26872417	0	A	26872417	G	A	26872417	3	1	39	1	0	0	0	0	1	0	0	0	13729	1145	40	1	144	1	RPS6KA1	1	26872417	Missense_Mutation	SNP	G	TCGA-FB-A545-01A-11D-A26I-08		26872417	222378204	1	3084											
BAI2	576	broad.mit.edu	37	chr1	32196436	32196436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatggtagagccgggcaCggtgcgaggcatggtccggc	17	11	1	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:32196436C>T	ENST00000373658.3	-	29	4686	c.4345G>A	c.(4345-4347)Gtg>Atg	p.V1449M	BAI2_ENST00000257070.4_Missense_Mutation_p.V1416M|BAI2_ENST00000440175.2_Missense_Mutation_p.V1058M|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398547.1_Missense_Mutation_p.V1382M|BAI2_ENST00000527361.1_Missense_Mutation_p.V1416M|BAI2_ENST00000398556.3_Missense_Mutation_p.V1364M|BAI2_ENST00000373655.2_Missense_Mutation_p.V1449M|BAI2_ENST00000398538.1_Missense_Mutation_p.V1437M|BAI2_ENST00000398542.1_Missense_Mutation_p.V1349M	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1449					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GAGCCGGGCACGGTGCGAGGC	0.647													False	0	False	1:32196436	0	T	32196436	C	T	32196436	3	4	39	1	0	0	0	0	1	0	0	0	1303	536	19	1	432	1	BAI2	1	32196436	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08	5324019	32196436	217054185	2	3085											
C1orf87	127795	broad.mit.edu	37	chr1	60491098	60491098	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcattttggtaacccaaatCttgatggttaagcaatgttt	7	6	2	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:60491098C>G	ENST00000371201.3	-	8	1209	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	C1orf87_ENST00000450089.2_Missense_Mutation_p.D139H	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	368							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TAACCCAAATCTTGATGGTTA	0.363													False	0	False	1:60491098	0	G	60491098	C	G	60491098	3	3	39	1	0	0	0	0	1	0	0	0	2080	913	32	5	558	5	C1orf87	1	60491098	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08	28294662	60491098	188759523	3	3086											
COL24A1	255631	broad.mit.edu	37	chr1	86497562	86497562	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatatttagtgatactcactCtaagcccaggaaaccccgga	8	11	2	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:86497562C>G	ENST00000370571.2	-	14	2414	c.2048G>C	c.(2047-2049)aGa>aCa	p.R683T	COL24A1_ENST00000436319.1_Splice_Site_p.R683T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	683	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GATACTCACTCTAAGCCCAGG	0.338													False	0	True	1:86497562	0	G	86497562	C	G	86497562	5	3	39	1	0	0	0	0	0	0	1	0	3706	927	32	5	3284	5	COL24A1	1	86497562	Splice_Site	SNP	C	TCGA-FB-A545-01A-11D-A26I-08	26006464	86497562	162753059	4	3087											
GPSM2	29899	broad.mit.edu	37	chr1	109465166	109465168	+	In_Frame_Del	DEL	CTT	CTT	-													ccatacagcttcaacaacaaCttcttccactccccctaaaa					rs79761186		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:109465166_109465168delCTT	ENST00000406462.1	+	14	2341_2343	c.1568_1570delCTT	c.(1567-1572)acttct>act	p.S525del	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_In_Frame_Del_p.S525del			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	525					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCAACAACAACTTCTTCCACTCC	0.374													False	2	True	1:109465166	0	-	109465168	CTT	-	109465166	7	5	39	1	0	1	0	1	0	0	0	0	6782	565	20	0	1614	0	GPSM2	1	109465166	In_Frame_Del	DEL	CTT	TCGA-FB-A545-01A-11D-A26I-08	22967604	109465166	139785455	5	3088											
USH2A	7399	broad.mit.edu	37	chr1	215960150	215960150	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtggctggtaaagttgaagtCacacctgccacaatgttctg	11	9	2	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:215960150C>T	ENST00000366943.2	-	52	10635	c.10249G>A	c.(10249-10251)Gac>Aac	p.D3417N	USH2A_ENST00000307340.3_Missense_Mutation_p.D3417N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3417	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGTTGAAGTCACACCTGCCA	0.493										HNSCC(13;0.011)			False	0	False	1:215960150	0	T	215960150	C	T	215960150	3	4	39	1	0	0	0	0	1	0	0	0	17120	826	29	2	5443	2	USH2A	1	215960150	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08	106494984	215960150	33290471	6	3089											
SPATA17	128153	broad.mit.edu	37	chr1	217947827	217947827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagcttgtacaagcgcccGttcttttcctcggtctgaaa	9	12	2	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:217947827G>A	ENST00000366933.4	+	7	726	c.671G>A	c.(670-672)cGt>cAt	p.R224H		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	224						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ACAAGCGCCCGTTCTTTTCCT	0.403													False	0	True	1:217947827	0	A	217947827	G	A	217947827	3	1	39	1	0	0	0	0	1	0	0	0	15084	1145	40	1	697	1	SPATA17	1	217947827	Missense_Mutation	SNP	G	TCGA-FB-A545-01A-11D-A26I-08	1987677	217947827	31302794	7	3090											
UNC50	25972	broad.mit.edu	37	chr2	99226308	99226308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagacacacagccggagCgaaacgctacaaatatctga	10	11	1	2			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr2:99226308C>T	ENST00000409975.1	+	1	1267	c.137C>T	c.(136-138)gCg>gTg	p.A46V	UNC50_ENST00000409347.1_Missense_Mutation_p.A46V|UNC50_ENST00000357765.2_Missense_Mutation_p.A29V			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	29					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACAGCCGGAGCGAAACGCTAC	0.493													False	0	False	2:99226308	0	T	99226308	C	T	99226308	3	4	39	1	0	0	0	0	1	0	0	0	17074	768	27	1	88	1	UNC50	2	99226308	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08		99226308	143973065	8	3091											
TTN	7273	broad.mit.edu	37	chr2	179655562	179655562	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcagcagttatctcagttTcctgtcttatctgatgttta	7	8	3	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr2:179655562T>C	ENST00000589042.1	-	11	1897	c.1673A>G	c.(1672-1674)gAa>gGa	p.E558G	TTN_ENST00000360870.5_Missense_Mutation_p.E558G|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E558G|TTN_ENST00000342992.6_Missense_Mutation_p.E558G|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	558							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCTCAGTTTCCTGTCTTAT	0.393													False	0	True	2:179655562	0	C	179655562	T	C	179655562	3	2	39	1	0	0	0	0	1	0	0	0	16819	1783	62	4	109723	4	TTN	2	179655562	Missense_Mutation	SNP	T	TCGA-FB-A545-01A-11D-A26I-08	80429254	179655562	63543811	9	3092											
TMEM198	130612	broad.mit.edu	37	chr2	220414568	220414568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcaggccccccagtgCgggtatagccatatctgtct	10	15	3	0			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr2:220414568C>T	ENST00000344458.2	+	6	1660	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	TMEM198_ENST00000373883.3_Missense_Mutation_p.R359W			Q66K66	TM198_HUMAN	transmembrane protein 198	359						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCCCCAGTGCGGGTATAGCC	0.622													False	0	True	2:220414568	0	T	220414568	C	T	220414568	3	4	39	1	0	0	0	0	1	0	0	0	16201	759	27	1	1089	1	TMEM198	2	220414568	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08	40759006	220414568	22784805	10	3093											
SATB1	6304	broad.mit.edu	37	chr3	18462359	18462359	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagcgggctcccgttctgcTccaggcgggcaatcttggct	13	14	2	0			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:18462359T>G	ENST00000338745.6	-	2	1835	c.101A>C	c.(100-102)gAg>gCg	p.E34A	SATB1_ENST00000454909.2_Missense_Mutation_p.E34A|SATB1_ENST00000417717.2_Missense_Mutation_p.E34A|SATB1_ENST00000493952.2_Missense_Mutation_p.E34A|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	34					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCGTTCTGCTCCAGGCGGGC	0.507													False	0	False	3:18462359	0	G	18462359	T	G	18462359	3	3	39	1	0	0	0	0	1	0	0	0	13933	1551	54	4	2230	4	SATB1	3	18462359	Missense_Mutation	SNP	T	TCGA-FB-A545-01A-11D-A26I-08		18462359	179560071	11	3094											
DLEC1	9940	broad.mit.edu	37	chr3	38087134	38087134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcggaaaatgagcgggtcaTgagccaggctggagtacagg	17	7	1	2			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:38087134T>C	ENST00000308059.6	+	2	533	c.512T>C	c.(511-513)aTg>aCg	p.M171T	DLEC1_ENST00000452631.2_Missense_Mutation_p.M171T|DLEC1_ENST00000346219.3_Missense_Mutation_p.M171T			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	171					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGCGGGTCATGAGCCAGGCT	0.532													False	0	False	3:38087134	0	C	38087134	T	C	38087134	3	2	39	1	0	0	0	0	1	0	0	0	4582	1464	51	4	518	4	DLEC1	3	38087134	Missense_Mutation	SNP	T	TCGA-FB-A545-01A-11D-A26I-08	19624775	38087134	159935296	12	3095											
MST1	4485	broad.mit.edu	37	chr3	49723069	49723069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcgaatggggtccttggGtccatcgtgtagcaccaggg	15	9	0	0			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:49723069G>A	ENST00000449682.2	-	11	1708	c.1347C>T	c.(1345-1347)gaC>gaT	p.D449D	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	435					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGTCCTTGGGTCCATCGTGT	0.612													False	0	True	3:49723069	0	A	49723069	G	A	49723069	2	1	39	1	0	0	0	0	0	0	0	1	9957	1252	44	2		2	MST1	3	49723069	Silent	SNP	G	TCGA-FB-A545-01A-11D-A26I-08	11635935	49723069	148299361	13	3096											
MST1R	4486	broad.mit.edu	37	chr3	49936017	49936017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactccttctgctggccgcaCatgttcccacaccagccaca	6	19	1	0			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:49936017C>T	ENST00000296474.3	-	4	1680	c.1653G>A	c.(1651-1653)atG>atA	p.M551I	MST1R_ENST00000344206.4_Missense_Mutation_p.M551I	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	551					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCTGGCCGCACATGTTCCCAC	0.602													False	0	False	3:49936017	0	T	49936017	C	T	49936017	3	4	39	1	0	0	0	0	1	0	0	0	9958	478	17	2	2617	2	MST1R	3	49936017	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08	212948	49936017	148086413	14	3097											
IFT122	55764	broad.mit.edu	37	chr3	129195581	129195581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgggctttacaaggacCgctatgcctacagggatagc	11	11	0	0			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:129195581C>T	ENST00000296266.3	+	12	1429	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C	IFT122_ENST00000349441.2_Missense_Mutation_p.R251C|IFT122_ENST00000431818.2_Missense_Mutation_p.R212C|IFT122_ENST00000507564.1_Missense_Mutation_p.R354C|IFT122_ENST00000440957.2_Missense_Mutation_p.R153C|IFT122_ENST00000504021.1_Missense_Mutation_p.R256C|IFT122_ENST00000347300.2_Missense_Mutation_p.R303C|IFT122_ENST00000348417.2_Missense_Mutation_p.R362C	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	362					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TTACAAGGACCGCTATGCCTA	0.537													False	0	False	3:129195581	0	T	129195581	C	T	129195581	3	4	39	1	0	0	0	0	1	0	0	0	7605	652	23	1	1283	1	IFT122	3	129195581	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08	79259564	129195581	68826849	15	3098											
GAK	2580	broad.mit.edu	37	chr4	864531	864531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtcttgctgctcctccCggctggaaaacaggattttg	11	10	1	0			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr4:864531C>T	ENST00000314167.4	-	19	2326	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	GAK_ENST00000511163.1_Missense_Mutation_p.R660Q|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	739					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGCTCCTCCCGGCTGGAAAA	0.562													False	0	True	4:864531	0	T	864531	C	T	864531	3	4	39	1	0	0	0	0	1	0	0	0	6238	652	23	1	1759	1	GAK	4	864531	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08		864531	190289745	16	3099											
ATP8A1	10396	broad.mit.edu	37	chr4	42580334	42580334	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctaatgtaaccaataagctGataggaatgagattgttgaa	9	4	1	3			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr4:42580334G>A	ENST00000381668.5	-	12	1302	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	ATP8A1_ENST00000264449.10_Silent_p.I357I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	357					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCAATAAGCTGATAGGAATGA	0.348													False	0	False	4:42580334	0	A	42580334	G	A	42580334	2	1	39	1	0	0	0	0	0	0	0	1	1196	1280	45	2		2	ATP8A1	4	42580334	Silent	SNP	G	TCGA-FB-A545-01A-11D-A26I-08	41715803	42580334	148573942	17	3100											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	39	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-FB-A545-01A-11D-A26I-08		78610444	102304816	18	3101											
ZNF354A	6940	broad.mit.edu	37	chr5	178139093	178139093	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcgatatgaattttataatGattagtaagggatgacctat	8	3	0	3			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr5:178139093G>A	ENST00000335815.2	-	5	1983	c.1786C>T	c.(1786-1788)Cat>Tat	p.H596Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	596					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ATTTTATAATGATTAGTAAGG	0.373													False	0	False	5:178139093	0	A	178139093	G	A	178139093	3	1	39	1	0	0	0	0	1	0	0	0	17947	1290	45	2	35	2	ZNF354A	5	178139093	Missense_Mutation	SNP	G	TCGA-FB-A545-01A-11D-A26I-08	99528649	178139093	2776167	19	3102											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	39	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-FB-A545-01A-11D-A26I-08		7393450	163721617	20	3103											
CYB5R4	51167	broad.mit.edu	37	chr6	84649843	84649843	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agttccaagaattagaagatCtctttttgttggcagctgga	10	6	1	3			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr6:84649843C>T	ENST00000369681.5	+	13	1317	c.1177C>T	c.(1177-1179)Ctc>Ttc	p.L393F	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4						cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATTAGAAGATCTCTTTTTGTT	0.348													False	0	False	6:84649843	0	T	84649843	C	T	84649843	3	4	39	1	0	0	0	0	1	0	0	0	4154	913	32	2	1227	2	CYB5R4	6	84649843	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08	77256393	84649843	86465224	21	3104											
ARMC2	84071	broad.mit.edu	37	chr6	109197507	109197508	+	In_Frame_Ins	INS	-	-	ATATTT													tgaaataaaggagcaagaaaINStgttcaaaggaacaacatct							TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr6:109197507_109197508insATATTT	ENST00000392644.4	+	5	793_794	c.625_626insATATTT	c.(625-627)atg>aATATTTtg	p.209_209M>NIL	ARMC2_ENST00000368972.3_In_Frame_Ins_p.44_44M>NIL	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	209							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GGAGCAAGAAATGTTCAAAGGA	0.351													False	0	True	6:109197507	0	ATATTT	109197508	-	ATATTT	109197507	7	5	39	1	0	1	1	0	0	0	0	0	955	101	4	0	639	0	ARMC2	6	109197507	In_Frame_Ins	INS	-	TCGA-FB-A545-01A-11D-A26I-08	24547664	109197507	61917560	22	3105	33	2									
ARMC2	84071	broad.mit.edu	37	chr6	109197509	109197510	+	Frame_Shift_Ins	INS	-	-	TTGAAGTA													aaataaaggagcaagaaatgINSttcaaaggaacaacatcttt							TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr6:109197509_109197510insTTGAAGTA	ENST00000392644.4	+	5	795_796	c.627_628insTTGAAGTA	c.(628-630)ttcfs	p.F210fs	ARMC2_ENST00000368972.3_Frame_Shift_Ins_p.F45fs	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	210							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AGCAAGAAATGTTCAAAGGAAC	0.347													False	0	False	6:109197509	0	TTGAAGTA	109197510	-	TTGAAGTA	109197509	7	5	39	1	0	1	1	0	0	0	0	0	955	1377	48	0	641	0	ARMC2	6	109197509	Frame_Shift_Ins	INS	-	TCGA-FB-A545-01A-11D-A26I-08	2	109197509	61917558	23	3106	33	2									
ZMIZ2	83637	broad.mit.edu	37	chr7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-													aagcggcagctgctgcagctGtggctgctgcggcagccact					rs142075074	by1000genomes	TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678													False	1	False	7:44797065	0	-	44797109	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	44797065	7	5	39	1	0	1	0	1	0	0	0	0	17780	1377	48	0	471	0	ZMIZ2	7	44797065	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	TCGA-FB-A545-01A-11D-A26I-08		44797065	114341598	24	3107											
COBL	23242	broad.mit.edu	37	chr7	51098568	51098570	+	In_Frame_Del	DEL	TCT	TCT	-													actctccagcaattaataggTcttcttcatcatttgaggct					rs74996531		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr7:51098568_51098570delTCT	ENST00000265136.7	-	9	1608_1610	c.1443_1445delAGA	c.(1441-1446)gaagac>gac	p.E481del	COBL_ENST00000395542.2_In_Frame_Del_p.E563del	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	481				Missing (in Ref. 5; AAH29275).						NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AATTAATAGGTCTTCTTCATCAT	0.409													False	2	False	7:51098568	0	-	51098570	TCT	-	51098568	7	5	39	1	0	1	0	1	0	0	0	0	3676	1667	58	0	2360	0	COBL	7	51098568	In_Frame_Del	DEL	TCT	TCGA-FB-A545-01A-11D-A26I-08	6301503	51098568	108040095	25	3108											
POM121	9883	broad.mit.edu	37	chr7	72413745	72413745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggtgcagccaccagctcCggctttggagccaccaccca	10	17	0	0			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr7:72413745C>T	ENST00000395270.1	+	14	3459	c.2418C>T	c.(2416-2418)tcC>tcT	p.S806S	POM121_ENST00000446813.1_Silent_p.S806S|POM121_ENST00000358357.3_Silent_p.S806S|POM121_ENST00000257622.4_Silent_p.S806S|POM121_ENST00000434423.2_Silent_p.S1071S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1071	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCACCAGCTCCGGCTTTGGAG	0.657													False	0	False	7:72413745	0	T	72413745	C	T	72413745	2	4	39	1	0	0	0	0	0	0	0	1	12308	639	23	1		1	POM121	7	72413745	Silent	SNP	C	TCGA-FB-A545-01A-11D-A26I-08	21315177	72413745	86724918	26	3109											
KLHL38	340359	broad.mit.edu	37	chr8	124664070	124664070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaccagcatgggctccCccagcctccactgattgagt	11	16	0	2			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr8:124664070C>T	ENST00000325995.7	-	1	1120	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	366										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CATGGGCTCCCCCAGCCTCCA	0.572													False	0	True	8:124664070	0	T	124664070	C	T	124664070	3	4	39	1	0	0	0	0	1	0	0	0	8440	623	22	2	660	2	KLHL38	8	124664070	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08		124664070	21699952	27	3110											
CDKN2A	1029	broad.mit.edu	37	chr9	21971063	21971068	+	In_Frame_Del	DEL	GGTGCA	GGTGCA	-													gtccagccgcgccccggcccGgtgcagcaccaccagcgtgt					rs34886500		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	GGTGCA	GGTGCA	-	-	GGTGCA	GGTGCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:21971063_21971068delGGTGCA	ENST00000479692.2	-	2	151_156	c.137_142delTGCACC	c.(136-144)ctgcaccgg>cgg	p.LH46del	CDKN2A_ENST00000361570.3_In_Frame_Del_p.AP153del|CDKN2A_ENST00000497750.1_In_Frame_Del_p.LH46del|CDKN2A_ENST00000530628.2_In_Frame_Del_p.AP112del|CDKN2A_ENST00000498628.2_In_Frame_Del_p.LH46del|CDKN2A_ENST00000579755.1_In_Frame_Del_p.AP112del|CDKN2A_ENST00000494262.1_In_Frame_Del_p.LH46del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.LH97del|CDKN2A_ENST00000578845.2_In_Frame_Del_p.LH46del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.LH97del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.LH97del|CDKN2A_ENST00000304494.5_In_Frame_Del_p.LH97del			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	97					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L97R(5)|p.L97P(4)|p.H98P(3)|p.H98R(2)|p.H83fs*2(2)|p.R99W(2)|p.H98Y(1)|p.A153A(1)|p.H98H(1)|p.0(1)|p.L97fs*21(1)|p.T93_D105del(1)|p.R137fs*48(1)|p.A68fs*3(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCCCGGCCCGGTGCAGCACCACCAG	0.748		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	1	False	9:21971063	0	-	21971068	GGTGCA	-	21971063	7	5	39	1	0	1	0	1	0	0	0	0	3184	1116	39	0	183	0	CDKN2A	9	21971063	In_Frame_Del	DEL	GGTGCA	TCGA-FB-A545-01A-11D-A26I-08		21971063	119242368	28	3111											
AQP7	364	broad.mit.edu	37	chr9	33386077	33386077	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatcctcgaccactgacctCattcaggaagccccgccaca	6	18	3	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:33386077C>T	ENST00000537089.1	-	5	565	c.247G>A	c.(247-249)Gag>Aag	p.E83K	AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K|AQP7_ENST00000541274.1_Intron			O14520	AQP7_HUMAN	aquaporin 7	175					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACTGACCTCATTCAGGAAG	0.592													False	0	False	9:33386077	0	T	33386077	C	T	33386077	3	4	39	1	0	0	0	0	1	0	0	0	833	835	29	2	517	2	AQP7	9	33386077	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08	11415014	33386077	107827354	29	3112											
PCSK5	5125	broad.mit.edu	37	chr9	78790149	78790153	+	Frame_Shift_Del	DEL	AATGA	AATGA	-													aatggaatgaaatggaatggAatgaaatggaatggaatgga					rs4281168		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	AATGA	AATGA	-	-	AATGA	AATGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:78790149_78790153delAATGA	ENST00000376767.3	+	14	2516_2520	c.2004_2008delAATGA	c.(2002-2010)ggaatgaaafs	p.MK669fs	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						aatggaatggaatgaaatggaatgg	0.41													False	1	True	9:78790149	0	-	78790153	AATGA	-	78790149	7	5	39	1	0	1	0	1	0	0	0	0	11671	261	9	0		0	PCSK5	9	78790149	Frame_Shift_Del	DEL	AATGA	TCGA-FB-A545-01A-11D-A26I-08	45404072	78790149	62423282	30	3113											
GSN	2934	broad.mit.edu	37	chr9	124062285	124062285	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgcccgaggcgcgggTgagtgcccggggggccccgg	23	13	0	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000436847.1_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000373808.2_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697													False	0	True	9:124062285	0	G	124062285	T	G	124062285	5	3	39	1	0	0	0	0	0	0	1	0	6872	1710	59	4	148	4	GSN	9	124062285	Splice_Site	SNP	T	TCGA-FB-A545-01A-11D-A26I-08	45272136	124062285	17151146	31	3114											
KCNT1	57582	broad.mit.edu	37	chr9	138641963	138641963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtccaggtggagttctacGtcaacgagaacaccttcaag	12	10	3	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:138641963G>A	ENST00000298480.5	+	3	348	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	KCNT1_ENST00000263604.3_Missense_Mutation_p.V73I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V53I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V73I|KCNT1_ENST00000488444.2_Missense_Mutation_p.V73I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V59I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V44I|KCNT1_ENST00000371757.2_Missense_Mutation_p.V92I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	92						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGAGTTCTACGTCAACGAGAA	0.607													False	0	False	9:138641963	0	A	138641963	G	A	138641963	3	1	39	1	0	0	0	0	1	0	0	0	8141	1145	40	1	284	1	KCNT1	9	138641963	Missense_Mutation	SNP	G	TCGA-FB-A545-01A-11D-A26I-08	14579678	138641963	2571468	32	3115											
PCDH15	65217	broad.mit.edu	37	chr10	55616938	55616938	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagacaaaatcaattactctGtaagatcttctatctttttt	4	7	5	2			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr10:55616938G>T	ENST00000373965.2	-	29	4218	c.3824C>A	c.(3823-3825)aCa>aAa	p.T1275K	PCDH15_ENST00000320301.6_Missense_Mutation_p.T1268K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T1268K|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1268K|PCDH15_ENST00000395438.1_Missense_Mutation_p.T1268K|PCDH15_ENST00000437009.1_Missense_Mutation_p.T1197K|PCDH15_ENST00000409834.1_Missense_Mutation_p.T879K|PCDH15_ENST00000395433.1_Missense_Mutation_p.T1246K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.T1273K|PCDH15_ENST00000395432.2_Missense_Mutation_p.T1231K|PCDH15_ENST00000395445.1_Missense_Mutation_p.T1275K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1268					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAATTACTCTGTAAGATCTTC	0.313										HNSCC(58;0.16)			False	0	False	10:55616938	0	T	55616938	G	T	55616938	3	4	39	1	0	0	0	0	1	0	0	0	11579	1377	48	3	3707	3	PCDH15	10	55616938	Missense_Mutation	SNP	G	TCGA-FB-A545-01A-11D-A26I-08		55616938	79917809	33	3116											
QSER1	79832	broad.mit.edu	37	chr11	32955744	32955744	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatattttatcaaatgtAgatgatatcttagcagctac	6	5	2	3			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr11:32955744A>G	ENST00000399302.2	+	4	2888	c.2553A>G	c.(2551-2553)gtA>gtG	p.V851V	QSER1_ENST00000527788.1_Silent_p.V612V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	851										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TATCAAATGTAGATGATATCT	0.383													False	0	False	11:32955744	0	G	32955744	A	G	32955744	2	3	39	1	0	0	0	0	0	0	0	1	12961	407	15	4		4	QSER1	11	32955744	Silent	SNP	A	TCGA-FB-A545-01A-11D-A26I-08		32955744	102050772	34	3117											
CD44	960	broad.mit.edu	37	chr11	35218359	35218359	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaaacctgggattggtTttcatggttgtttctaccat	10	7	2	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr11:35218359T>G	ENST00000428726.2	+	6	857	c.734T>G	c.(733-735)tTt>tGt	p.F245C	CD44_ENST00000434472.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.F245C|CD44_ENST00000263398.6_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.F245C|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.F245C	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	245	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TGGGATTGGTTTTCATGGTTG	0.378													False	0	True	11:35218359	0	G	35218359	T	G	35218359	3	3	39	1	0	0	0	0	1	0	0	0	3040	1841	64	4	756	4	CD44	11	35218359	Missense_Mutation	SNP	T	TCGA-FB-A545-01A-11D-A26I-08	2262615	35218359	99788157	35	3118											
KCNA6	3742	broad.mit.edu	37	chr12	4920057	4920057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctggtgcgcttctccGcctgccctagcaagccggcc	11	18	1	0			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:4920057G>A	ENST00000433855.1	+	1	1716	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	KCNA6_ENST00000280684.3_Missense_Mutation_p.A284T	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	284						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GCGCTTCTCCGCCTGCCCTAG	0.542										HNSCC(72;0.22)			False	0	False	12:4920057	0	A	4920057	G	A	4920057	3	1	39	1	0	0	0	0	1	0	0	0	8057	1087	38	1	852	1	KCNA6	12	4920057	Missense_Mutation	SNP	G	TCGA-FB-A545-01A-11D-A26I-08		4920057	128931838	36	3119											
SOX5	6660	broad.mit.edu	37	chr12	24048945	24048945	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatacggagaggctggtcGcttggaagacatcctggaag	14	10	0	2			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:24048945G>A	ENST00000546136.1	-	1	15	c.13C>T	c.(13-15)Cga>Tga	p.R5*	SOX5_ENST00000451604.2_Nonsense_Mutation_p.R18*|SOX5_ENST00000541847.1_Nonsense_Mutation_p.R8*|SOX5_ENST00000545921.1_Nonsense_Mutation_p.R8*|SOX5_ENST00000309359.1_Nonsense_Mutation_p.R5*|SOX5_ENST00000537393.1_Nonsense_Mutation_p.R18*|SOX5_ENST00000441133.2_Nonsense_Mutation_p.R18*|SOX5_ENST00000541536.1_Nonsense_Mutation_p.R5*|SOX5_ENST00000381381.2_Nonsense_Mutation_p.R5*			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	18					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GAGGCTGGTCGCTTGGAAGAC	0.493													False	0	False	12:24048945	0	A	24048945	G	A	24048945	4	1	39	1	0	0	0	0	0	1	0	0	15034	1095	38	1	2305	1	SOX5	12	24048945	Nonsense_Mutation	SNP	G	TCGA-FB-A545-01A-11D-A26I-08	19128888	24048945	109802950	37	3120											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	39	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08	1349339	25398284	108453611	38	3121											
TMEM132D	121256	broad.mit.edu	37	chr12	130184677	130184677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcccctccggctggtccaCggacttcctcctcccggcaa	10	19	0	0			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:130184677C>T	ENST00000422113.2	-	2	972	c.646G>A	c.(646-648)Gtg>Atg	p.V216M		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	216						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCTGGTCCACGGACTTCCTC	0.692													False	0	False	12:130184677	0	T	130184677	C	T	130184677	3	4	39	1	0	0	0	0	1	0	0	0	16129	536	19	1	2685	1	TMEM132D	12	130184677	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08	104786393	130184677	3667218	39	3122											
NUFIP1	26747	broad.mit.edu	37	chr13	45523975	45523984	+	Splice_Site	DEL	TGAAGGGAAA	TGAAGGGAAA	-													ttctcctccttatcagactcTgaagggaaaagaagtcagat					rs77897726		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	TGAAGGGAAA	TGAAGGGAAA	-	-	TGAAGGGAAA	TGAAGGGAAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr13:45523975_45523984delTGAAGGGAAA	ENST00000379161.4	-	8	1068		c.e8-2			NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1						box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TATCAGACTCTGAAGGGAAAAGAAGTCAGA	0.405													False	1	True	13:45523975	0	-	45523984	TGAAGGGAAA	-	45523975	8	5	39	1	0	1	0	1	0	0	1	0	10816	1594	55	0	479	0	NUFIP1	13	45523975	Splice_Site	DEL	TGAAGGGAAA	TCGA-FB-A545-01A-11D-A26I-08		45523975	69645903	40	3123											
COMMD4	54939	broad.mit.edu	37	chr15	75631625	75631625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacgcggccagcctgtgcCgctgttatgaggagaagcaa	14	11	0	2			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr15:75631625C>T	ENST00000267935.8	+	6	521	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	COMMD4_ENST00000564815.1_Missense_Mutation_p.R86C|COMMD4_ENST00000338995.6_Missense_Mutation_p.R108C|COMMD4_ENST00000562789.1_Missense_Mutation_p.R114C|COMMD4_ENST00000567195.1_Intron	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	108						cytoplasm	protein binding	p.R108C(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CAGCCTGTGCCGCTGTTATGA	0.612													False	0	False	15:75631625	0	T	75631625	C	T	75631625	3	4	39	1	0	0	0	0	1	0	0	0	3741	652	23	1	344	1	COMMD4	15	75631625	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08		75631625	26899767	41	3124											
ADAMTS7	11173	broad.mit.edu	37	chr15	79090455	79090455	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagagctggaacacaccttTctggggaagaagcaccaggg	15	9	1	2			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr15:79090455T>C	ENST00000388820.4	-	3	667	c.457A>G	c.(457-459)Aaa>Gaa	p.K153E	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	153					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AACACACCTTTCTGGGGAAGA	0.652													False	0	True	15:79090455	0	C	79090455	T	C	79090455	5	2	39	1	0	0	0	0	0	0	1	0	271	1797	62	4	4691	4	ADAMTS7	15	79090455	Splice_Site	SNP	T	TCGA-FB-A545-01A-11D-A26I-08	3458830	79090455	23440937	42	3125											
NTRK3	4916	broad.mit.edu	37	chr15	88483870	88483870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttcacagccacaagcAtcttgtccttggtcgggctg	9	13	2	0			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr15:88483870A>G	ENST00000394480.2	-	15	2021	c.1700T>C	c.(1699-1701)aTg>aCg	p.M567T	NTRK3_ENST00000558676.1_Missense_Mutation_p.M559T|NTRK3_ENST00000542733.2_Missense_Mutation_p.M469T|NTRK3_ENST00000557856.1_Missense_Mutation_p.M559T|NTRK3_ENST00000355254.2_Missense_Mutation_p.M567T|NTRK3_ENST00000357724.2_Missense_Mutation_p.M559T|NTRK3_ENST00000360948.2_Missense_Mutation_p.M567T	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3		Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCCACAAGCATCTTGTCCTT	0.592			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			False	0	False	15:88483870	0	G	88483870	A	G	88483870	3	3	39	1	0	0	0	0	1	0	0	0	10776	217	8	4	843	4	NTRK3	15	88483870	Missense_Mutation	SNP	A	TCGA-FB-A545-01A-11D-A26I-08	9393415	88483870	14047522	43	3126											
ATXN2L	11273	broad.mit.edu	37	chr16	28841310	28841310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaacgacgatgggcgcaCtgaagaggagaagcacagtg	17	7	0	4			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr16:28841310C>T	ENST00000336783.4	+	8	1132	c.965C>T	c.(964-966)aCt>aTt	p.T322I	ATXN2L_ENST00000325215.6_Missense_Mutation_p.T322I|ATXN2L_ENST00000570200.1_Missense_Mutation_p.T322I|ATXN2L_ENST00000382686.4_Missense_Mutation_p.T322I|ATXN2L_ENST00000395547.2_Missense_Mutation_p.T322I|ATXN2L_ENST00000564304.1_Missense_Mutation_p.T322I|ATXN2L_ENST00000340394.8_Missense_Mutation_p.T322I	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	322						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GATGGGCGCACTGAAGAGGAG	0.612													False	0	False	16:28841310	0	T	28841310	C	T	28841310	3	4	39	1	0	0	0	0	1	0	0	0	1216	565	20	2	995	2	ATXN2L	16	28841310	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08		28841310	61513443	44	3127											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			False	0	False	17:7577121	0	A	7577121	G	A	7577121	3	1	39	1	0	0	0	0	1	0	0	0	16464	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FB-A545-01A-11D-A26I-08		7577121	73618089	45	3128											
POTEC	388468	broad.mit.edu	37	chr18	14542998	14542998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcttcataaaggagtcgtCgtggtctccagaagtgccca	10	11	3	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr18:14542998C>T	ENST00000358970.5	-	1	147	c.148G>A	c.(148-150)Gac>Aac	p.D50N	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	50										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGGAGTCGTCGTGGTCTCCA	0.592													False	0	False	18:14542998	0	T	14542998	C	T	14542998	3	4	39	1	0	0	0	0	1	0	0	0	12331	884	31	1	1524	1	POTEC	18	14542998	Missense_Mutation	SNP	C	TCGA-FB-A545-01A-11D-A26I-08		14542998	63534250	46	3129											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	39	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-FB-A545-01A-11D-A26I-08		14083667	45045316	47	3130											
TOX2	84969	broad.mit.edu	37	chr20	42635419	42635419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacagccacctgctgtcggGccagctgcccacggtgagtc	14	15	0	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr20:42635419G>T	ENST00000358131.5	+	3	633	c.425G>T	c.(424-426)gGc>gTc	p.G142V	TOX2_ENST00000423191.2_Missense_Mutation_p.G91V|TOX2_ENST00000341197.4_Missense_Mutation_p.G133V|TOX2_ENST00000372999.1_Missense_Mutation_p.G91V	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCTGTCGGGCCAGCTGCCC	0.587													False	0	True	20:42635419	0	T	42635419	G	T	42635419	3	4	39	1	0	0	0	0	1	0	0	0	16461	1203	42	3	538	3	TOX2	20	42635419	Missense_Mutation	SNP	G	TCGA-FB-A545-01A-11D-A26I-08		42635419	20390101	48	3131											
ZNF74	7625	broad.mit.edu	37	chr22	20760941	20760941	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagagccttcagccagAaccactgtctcattaaacat	8	13	2	2			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr22:20760941A>G	ENST00000400451.2	+	5	2132	c.1618A>G	c.(1618-1620)Aac>Gac	p.N540D	ZNF74_ENST00000356671.5_Missense_Mutation_p.N540D|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.N508D|ZNF74_ENST00000403682.3_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	540					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTTCAGCCAGAACCACTGTCT	0.547													False	0	False	22:20760941	0	G	20760941	A	G	20760941	3	3	39	1	0	0	0	0	1	0	0	0	18209	246	9	4	1636	4	ZNF74	22	20760941	Missense_Mutation	SNP	A	TCGA-FB-A545-01A-11D-A26I-08		20760941	30543625	49	3132											
TRIOBP	11078	broad.mit.edu	37	chr22	38119251	38119251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggctccggggagaaagcGggttgtccctggagcggcac	17	11	0	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr22:38119251G>A	ENST00000406386.3	+	7	943	c.688G>A	c.(688-690)Ggg>Agg	p.G230R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	230					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGGAGAAAGCGGGTTGTCCCT	0.647													False	0	True	22:38119251	0	A	38119251	G	A	38119251	3	1	39	1	0	0	0	0	1	0	0	0	16636	1116	39	1	706	1	TRIOBP	22	38119251	Missense_Mutation	SNP	G	TCGA-FB-A545-01A-11D-A26I-08	17358310	38119251	13185315	50	3133											
CXorf57	55086	broad.mit.edu	37	chrX	105879775	105879775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtttttgttctctagtgGcatattttgtgtgtacacag	10	5	1	0			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:105879775G>A	ENST00000372548.4	+	7	1415	c.1306G>A	c.(1306-1308)Gca>Aca	p.A436T	CXorf57_ENST00000372544.2_Missense_Mutation_p.A436T	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	436										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCTCTAGTGGCATATTTTGT	0.343													False	0	False	X:105879775	0	A	105879775	G	A	105879775	3	1	39	1	0	0	0	0	1	0	0	0	4138	1203	42	2	1332	2	CXorf57	23	105879775	Missense_Mutation	SNP	G	TCGA-FB-A545-01A-11D-A26I-08		105879775	49390785	51	3134											
COL4A5	1287	broad.mit.edu	37	chrX	107925082	107925082	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggccagcctgggctaaagGgtctaccaggaccccaagga	13	13	1	0			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:107925082G>T	ENST00000328300.6	+	47	4424	c.4180G>T	c.(4180-4182)Ggt>Tgt	p.G1394C	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1388C	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1388	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGGCTAAAGGGTCTACCAGG	0.458									Alport syndrome with Diffuse Leiomyomatosis				False	0	True	X:107925082	0	T	107925082	G	T	107925082	3	4	39	1	0	0	0	0	1	0	0	0	3717	1232	43	3	4351	3	COL4A5	23	107925082	Missense_Mutation	SNP	G	TCGA-FB-A545-01A-11D-A26I-08	2045307	107925082	47345478	52	3135											
SPANXD	64648	broad.mit.edu	37	chrX	140785784	140785784	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtatggtcgaggactcagaTgtttttagttttttcggagc	12	5	1	1			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:140785784T>A	ENST00000370515.3	-	2	465	c.132A>T	c.(130-132)acA>acT	p.T44T		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					AGGACTCAGATGTTTTTAGTT	0.478													False	0	False	X:140785784	0	A	140785784	T	A	140785784	2	1	39	1	0	0	0	0	0	0	0	1	15070	1451	51	5		5	SPANXD	23	140785784	Silent	SNP	T	TCGA-FB-A545-01A-11D-A26I-08	32860702	140785784	14484776	53	3136											
MECP2	4204	broad.mit.edu	37	chrX	153296531	153296531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcgcttcctgccggggcGtttgatcaccatgacctggg	12	12	1	2	rs61750225	byFrequency	TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:153296531G>A	ENST00000303391.6	-	4	997	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	MECP2_ENST00000453960.2_Missense_Mutation_p.R262C|MECP2_ENST00000407218.1_3'UTR	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	250					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCCGGGGCGTTTGATCACC	0.642													False	0	True	X:153296531	0	A	153296531	G	A	153296531	3	1	39	1	0	0	0	0	1	0	0	0	9490	1145	40	1	716	1	MECP2	23	153296531	Missense_Mutation	SNP	G	TCGA-FB-A545-01A-11D-A26I-08	12510747	153296531	1974029	54	3137											
CSMD2	114784	broad.mit.edu	37	chr1	34401481	34401481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtagcggaccttgtcacCgaggttgaaggttgaaccct	13	10	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:34401481C>T	ENST00000373381.4	-	4	768	c.592G>A	c.(592-594)Ggt>Agt	p.G198S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	158	Sushi 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCTTGTCACCGAGGTTGAAG	0.597													False	0	False	1:34401481	0	T	34401481	C	T	34401481	3	4	40	1	0	0	0	0	1	0	0	0	3970	652	23	1	10255	1	CSMD2	1	34401481	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		34401481	214849140	1	3138											
PTPRF	5792	broad.mit.edu	37	chr1	44069850	44069850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagtcccggaccatgccGgtggagcaaggtgtgtgctg	15	11	0	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:44069850G>A	ENST00000359947.4	+	16	3367	c.3027G>A	c.(3025-3027)ccG>ccA	p.P1009P	PTPRF_ENST00000372414.3_Silent_p.P1009P|PTPRF_ENST00000438120.1_Silent_p.P1000P|PTPRF_ENST00000422171.2_Silent_p.P357P|PTPRF_ENST00000372413.3_Silent_p.P1000P|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1009					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.P999P(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGACCATGCCGGTGGAGCAAG	0.622													False	0	False	1:44069850	0	A	44069850	G	A	44069850	2	1	40	1	0	0	0	0	0	0	0	1	12880	1103	39	1		1	PTPRF	1	44069850	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	9668369	44069850	205180771	2	3139											
RAD54L	8438	broad.mit.edu	37	chr1	46739341	46739341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcggtgacccgaagccGtagcagtgacaaagtagtgc	14	10	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:46739341G>A	ENST00000371975.4	+	14	2206	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	RAD54L_ENST00000442598.1_Missense_Mutation_p.R511H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	511	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACCCGAAGCCGTAGCAGTGAC	0.542								Direct reversal of damage;Homologous recombination					False	0	False	1:46739341	0	A	46739341	G	A	46739341	3	1	40	1	0	0	0	0	1	0	0	0	13072	1145	40	1	1586	1	RAD54L	1	46739341	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	2669491	46739341	202511280	3	3140											
LRRC40	55631	broad.mit.edu	37	chr1	70641617	70641617	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aattgaattcagatgtttaaGatgttctgcctctaacattt	6	6	3	3			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:70641617G>C	ENST00000370952.3	-	7	932	c.853C>G	c.(853-855)Ctt>Gtt	p.L285V		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	285										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						AGATGTTTAAGATGTTCTGCC	0.348													False	0	False	1:70641617	0	C	70641617	G	C	70641617	3	2	40	1	0	0	0	0	1	0	0	0	9060	942	33	5	991	5	LRRC40	1	70641617	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	23902276	70641617	178609004	4	3141											
NEGR1	257194	broad.mit.edu	37	chr1	71873147	71873147	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttattgtagaatggcattCttcaggtagaatatgctggt	10	4	2	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:71873147C>T	ENST00000357731.5	-	7	1286	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	ZRANB2-AS2_ENST00000608579.1_RNA|NEGR1_ENST00000306821.3_Silent_p.K221K|NEGR1_ENST00000434200.1_Silent_p.K303K|ZRANB2-AS2_ENST00000430605.1_RNA	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1						cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GAATGGCATTCTTCAGGTAGA	0.428													False	0	False	1:71873147	0	T	71873147	C	T	71873147	2	4	40	1	0	0	0	0	0	0	0	1	10385	912	32	2		2	NEGR1	1	71873147	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	1231530	71873147	177377474	5	3142											
INTS3	65123	broad.mit.edu	37	chr1	153723618	153723618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgccatggctgtttacaCgtacctccgcctcatcgtgg	9	14	1	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:153723618C>T	ENST00000456435.1	+	7	1200	c.14C>T	c.(13-15)aCg>aTg	p.T5M	INTS3_ENST00000435409.2_Missense_Mutation_p.T211M|INTS3_ENST00000512605.1_Missense_Mutation_p.T5M|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000318967.2_Missense_Mutation_p.T211M|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000476843.1_3'UTR			Q68E01	INT3_HUMAN	integrator complex subunit 3	212					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTGTTTACACGTACCTCCGC	0.567													False	0	False	1:153723618	0	T	153723618	C	T	153723618	3	4	40	1	0	0	0	0	1	0	0	0	7829	536	19	1	658	1	INTS3	1	153723618	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	81850471	153723618	95527003	6	3143											
RAB25	57111	broad.mit.edu	37	chr1	156038083	156038083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatcgtggtgcagtggggGccctcctggtgtttgaccta	14	10	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:156038083G>A	ENST00000361084.5	+	3	503	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	88					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCAGTGGGGGCCCTCCTGGT	0.557													False	0	True	1:156038083	0	A	156038083	G	A	156038083	3	1	40	1	0	0	0	0	1	0	0	0	12991	1203	42	2	272	2	RAB25	1	156038083	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	2314465	156038083	93212538	7	3144											
PEX19	5824	broad.mit.edu	37	chr1	160250012	160250012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctggaggtagagattcccGatgactctgcaaccattctg	10	11	3	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:160250012G>A	ENST00000368072.5	-	6	640	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	DCAF8_ENST00000556710.1_Missense_Mutation_p.R60W|PEX19_ENST00000440949.3_Missense_Mutation_p.R117W|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_Missense_Mutation_p.R60W	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGATTCCCGATGACTCTGC	0.428													False	0	True	1:160250012	0	A	160250012	G	A	160250012	3	1	40	1	0	0	0	0	1	0	0	0	11813	1057	37	1	292	1	PEX19	1	160250012	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	4211929	160250012	89000609	8	3145											
OLFML2B	25903	broad.mit.edu	37	chr1	161953822	161953822	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatcgtccagggccgggtaGatgagccataggccattctc	12	12	2	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:161953822G>A	ENST00000294794.3	-	8	2319	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	OLFML2B_ENST00000367940.2_Silent_p.I633I|OLFML2B_ENST00000367938.1_Silent_p.I115I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	632	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGGCCGGGTAGATGAGCCATA	0.617													False	0	False	1:161953822	0	A	161953822	G	A	161953822	2	1	40	1	0	0	0	0	0	0	0	1	10926	932	33	2		2	OLFML2B	1	161953822	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	1703810	161953822	87296799	9	3146											
PLA2G4A	5321	broad.mit.edu	37	chr1	186916023	186916023	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctggggcagtgccttttcCatattgttcaacagagtttt	10	8	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:186916023C>A	ENST00000367466.3	+	12	1346	c.1194C>A	c.(1192-1194)tcC>tcA	p.S398S	PLA2G4A_ENST00000442353.2_Silent_p.S338S	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	398	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GTGCCTTTTCCATATTGTTCA	0.358													False	0	False	1:186916023	0	A	186916023	C	A	186916023	2	1	40	1	0	0	0	0	0	0	0	1	12070	581	21	3		3	PLA2G4A	1	186916023	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	24962201	186916023	62334598	10	3147											
B3GALT2	8707	broad.mit.edu	37	chr1	193149903	193149903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctggcttcagtaacttatTgattaaatattcagtgttga	7	5	3	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:193149903T>C	ENST00000367434.4	-	2	1545	c.790A>G	c.(790-792)Aat>Gat	p.N264D	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	264					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AGTAACTTATTGATTAAATAT	0.388													False	0	False	1:193149903	0	C	193149903	T	C	193149903	3	2	40	1	0	0	0	0	1	0	0	0	1252	1812	63	4	482	4	B3GALT2	1	193149903	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	6233880	193149903	56100718	11	3148											
PLXNA2	5362	broad.mit.edu	37	chr1	208257827	208257827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcatagcctcgctggccGgactgcggctggggcagatt	14	13	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:208257827G>A	ENST00000367033.3	-	10	2953	c.2196C>T	c.(2194-2196)tcC>tcT	p.S732S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	732					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTCGCTGGCCGGACTGCGGCT	0.592													False	0	False	1:208257827	0	A	208257827	G	A	208257827	2	1	40	1	0	0	0	0	0	0	0	1	12189	1103	39	1		1	PLXNA2	1	208257827	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	15107924	208257827	40992794	12	3149											
ACOXL	55289	broad.mit.edu	37	chr2	111556628	111556628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctgtccgggatgaaaaCggaagcttgtacccaggagt	13	9	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:111556628C>T	ENST00000389811.4	+	7	722	c.498C>T	c.(496-498)aaC>aaT	p.N166N	ACOXL_ENST00000340561.4_Silent_p.N166N|ACOXL_ENST00000439055.1_Silent_p.N166N			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	166					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GGGATGAAAACGGAAGCTTGT	0.502													False	0	True	2:111556628	0	T	111556628	C	T	111556628	2	4	40	1	0	0	0	0	0	0	0	1	161	535	19	1		1	ACOXL	2	111556628	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		111556628	131642745	13	3150											
GPD2	2820	broad.mit.edu	37	chr2	157435503	157435503	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaattagcctactgccttcaGacattgacaggtacttataa	6	9	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:157435503G>T	ENST00000310454.6	+	14	2242	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	GPD2_ENST00000409125.4_Missense_Mutation_p.D397Y|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409674.1_Missense_Mutation_p.D624Y|GPD2_ENST00000438166.2_Missense_Mutation_p.D624Y	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	624	EF-hand 1.				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACTGCCTTCAGACATTGACAG	0.333													False	0	False	2:157435503	0	T	157435503	G	T	157435503	3	4	40	1	0	0	0	0	1	0	0	0	6652	942	33	3	1920	3	GPD2	2	157435503	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	45878875	157435503	85763870	14	3151											
SCN3A	6328	broad.mit.edu	37	chr2	165953881	165953881	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attgttaacatcactaatgtCaaacatgttacccgttgtca	5	9	3	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:165953881C>A	ENST00000360093.3	-	23	4611	c.4120G>T	c.(4120-4122)Gac>Tac	p.D1374Y	SCN3A_ENST00000409101.3_Missense_Mutation_p.D1325Y|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1374Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1374						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCACTAATGTCAAACATGTTA	0.423													False	0	True	2:165953881	0	A	165953881	C	A	165953881	3	1	40	1	0	0	0	0	1	0	0	0	13999	826	29	3	1906	3	SCN3A	2	165953881	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	8518378	165953881	77245492	15	3152											
RAPH1	65059	broad.mit.edu	37	chr2	204354426	204354427	+	Frame_Shift_Ins	INS	-	-	GAGGTAAATAAATGGAACTTTTTCCCTGGTATTTTGTTATTAA													ctggaatgggaggaattactINSaatagagtgtacttcagcat							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:204354426_204354427insGAGGTAAATAAATGGAACTTTTTCCCTGGTATTTTGTTATTAA	ENST00000319170.5	-	4	911_912	c.612_613insTTAATAACAAAATACCAGGGAAAAAGTTCCATTTATTTACCTC	c.(610-615)attagtfs	p.S205fs	RAPH1_ENST00000423104.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000308091.4_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000418114.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000374489.2_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000419464.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000453034.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000439222.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000457812.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000374488.2_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000374493.3_Frame_Shift_Ins_p.S205fs	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	205					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGGAATTACTAATAGAGTGTA	0.45													False	0	False	2:204354426	0	GAGGTAAATAAATGGAACTTTTTCCCTGGTATTTTGTTATTAA	204354427	-	GAGGTAAATAAATGGAACTTTTTCCCTGGTATTTTGTTATTAA	204354426	7	5	40	1	0	1	1	0	0	0	0	0	13129	1522	53	0	3354	0	RAPH1	2	204354426	Frame_Shift_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	38400545	204354426	38844947	16	3153											
IL17RE	132014	broad.mit.edu	37	chr3	9956176	9956176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctccatgcttcactcagCtccccgggaggagaagatgc	11	14	2	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:9956176C>T	ENST00000454190.2	+	14	1399	c.1314C>T	c.(1312-1314)agC>agT	p.S438S	IL17RE_ENST00000421412.1_Intron|IL17RE_ENST00000295980.3_Intron|IL17RE_ENST00000383814.3_Intron	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	0						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CTTCACTCAGCTCCCCGGGAG	0.612													False	0	False	3:9956176	0	T	9956176	C	T	9956176	2	4	40	1	0	0	0	0	0	0	0	1	7693	812	28	2		2	IL17RE	3	9956176	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		9956176	188066254	17	3154											
OR5K3	403277	broad.mit.edu	37	chr3	98109887	98109887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgactgctatgtggccatAtgcaacccactgcagtacca	8	12	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:98109887A>G	ENST00000383695.1	+	1	378	c.378A>G	c.(376-378)atA>atG	p.I126M	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATGTGGCCATATGCAACCCAC	0.478													False	0	False	3:98109887	0	G	98109887	A	G	98109887	3	3	40	1	0	0	0	0	1	0	0	0	11236	439	16	4	380	4	OR5K3	3	98109887	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	88153711	98109887	99912543	18	3155											
ACAD9	28976	broad.mit.edu	37	chr3	128625055	128625055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggactatccgtacgagcGcatactgcgtgacacccgca	11	13	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:128625055G>A	ENST00000308982.7	+	12	1322	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	414						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCGTACGAGCGCATACTGCGT	0.632													False	0	False	3:128625055	0	A	128625055	G	A	128625055	3	1	40	1	0	0	0	0	1	0	0	0	111	1087	38	1	1287	1	ACAD9	3	128625055	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	30515168	128625055	69397375	19	3156											
AMOTL2	51421	broad.mit.edu	37	chr3	134090033	134090033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccaggtggttctcaccGccctggtgctcctggccctg	12	16	2	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:134090033G>A	ENST00000514516.1	-	2	595	c.417C>T	c.(415-417)ggC>ggT	p.G139G	AMOTL2_ENST00000422605.2_Silent_p.G81G|AMOTL2_ENST00000249883.5_Silent_p.G81G|AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000513145.1_Silent_p.G81G	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	81										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGTTCTCACCGCCCTGGTGCT	0.677													False	0	True	3:134090033	0	A	134090033	G	A	134090033	2	1	40	1	0	0	0	0	0	0	0	1	584	1074	38	1		1	AMOTL2	3	134090033	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	5464978	134090033	63932397	20	3157											
TRIM42	287015	broad.mit.edu	37	chr3	140401600	140401600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagaactacctgcacgggcGtctcaccaagcgctacatgc	10	15	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:140401600G>A	ENST00000286349.3	+	2	829	c.638G>A	c.(637-639)cGt>cAt	p.R213H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	213						intracellular	zinc ion binding	p.R213H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTGCACGGGCGTCTCACCAAG	0.612													False	0	False	3:140401600	0	A	140401600	G	A	140401600	3	1	40	1	0	0	0	0	1	0	0	0	16600	1145	40	1	644	1	TRIM42	3	140401600	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	6311567	140401600	57620830	21	3158											
EVC	2121	broad.mit.edu	37	chr4	5798842	5798842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgccctggccaccctgacGcagatgcggctatcggggaa	13	14	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:5798842G>A	ENST00000382674.2	+	14	2164	c.1980G>A	c.(1978-1980)acG>acA	p.T660T	EVC_ENST00000264956.6_Silent_p.T660T|EVC_ENST00000515113.1_3'UTR			P57679	EVC_HUMAN	Ellis van Creveld syndrome	660					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCACCCTGACGCAGATGCGGC	0.672													False	0	False	4:5798842	0	A	5798842	G	A	5798842	2	1	40	1	0	0	0	0	0	0	0	1	5317	1074	38	1		1	EVC	4	5798842	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		5798842	185355434	22	3159											
PCDH7	5099	broad.mit.edu	37	chr4	30723222	30723222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacctgggcatcgtgaccGgatcgggtgaggtgactttc	15	10	0	4			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:30723222G>A	ENST00000361762.2	+	1	1186	c.178G>A	c.(178-180)Gga>Aga	p.G60R	PCDH7_ENST00000543491.1_Missense_Mutation_p.G60R	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	60	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CATCGTGACCGGATCGGGTGA	0.677													False	0	False	4:30723222	0	A	30723222	G	A	30723222	3	1	40	1	0	0	0	0	1	0	0	0	11584	1117	39	1	180	1	PCDH7	4	30723222	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	24924380	30723222	160431054	23	3160											
GABRB1	2560	broad.mit.edu	37	chr4	47163392	47163392	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtaccagacacctacTttctgaatgacaagaaatca	7	10	3	4			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:47163392T>C	ENST00000295454.3	+	4	659	c.367T>C	c.(367-369)Ttt>Ctt	p.F123L	GABRB1_ENST00000538619.1_Missense_Mutation_p.F53L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	123					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGACACCTACTTTCTGAATGA	0.443													False	0	True	4:47163392	0	C	47163392	T	C	47163392	3	2	40	1	0	0	0	0	1	0	0	0	6208	1609	56	4	381	4	GABRB1	4	47163392	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	16440170	47163392	143990884	24	3161											
LRRC66	339977	broad.mit.edu	37	chr4	52860732	52860732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcataagtgaacatgcccGgaaactcatcccctaaggga	8	11	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:52860732G>A	ENST00000343457.3	-	4	2462	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	819						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAACATGCCCGGAAACTCATC	0.463													False	0	True	4:52860732	0	A	52860732	G	A	52860732	3	1	40	1	0	0	0	0	1	0	0	0	9080	1116	39	1	190	1	LRRC66	4	52860732	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	5697340	52860732	138293544	25	3162											
MTHFD2L	441024	broad.mit.edu	37	chr4	75041057	75041057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggaagaacttttggacGtaactgatcaattgaatatg	9	6	2	3			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:75041057G>A	ENST00000395759.2	+	3	415	c.388G>A	c.(388-390)Gta>Ata	p.V130I	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000433372.1_5'UTR|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.V72I	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	72					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ACTTTTGGACGTAACTGATCA	0.368													False	0	False	4:75041057	0	A	75041057	G	A	75041057	3	1	40	1	0	0	0	0	1	0	0	0	9997	1145	40	1	398	1	MTHFD2L	4	75041057	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	22180325	75041057	116113219	26	3163											
HSD17B11	51170	broad.mit.edu	37	chr4	88293960	88293961	+	Frame_Shift_Ins	INS	-	-	ACCTTGTGTGTGAGATTTC													cattgcaggaagaaatgcctINSttgtagtctacaaatagttt							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:88293960_88293961insACCTTGTGTGTGAGATTTC	ENST00000358290.4	-	4	772_773	c.457_458insGAAATCTCACACACAAGGT	c.(457-459)aagfs	p.K153fs	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Frame_Shift_Ins_p.K109fs	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	153					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AAGAAATGCCTTTGTAGTCTAC	0.371													False	0	True	4:88293960	0	ACCTTGTGTGTGAGATTTC	88293961	-	ACCTTGTGTGTGAGATTTC	88293960	7	5	40	1	0	1	1	0	0	0	0	0	7427	1609	56	0	460	0	HSD17B11	4	88293960	Frame_Shift_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	13252903	88293960	102860316	27	3164											
IBSP	3381	broad.mit.edu	37	chr4	88732603	88732603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatgaaaacgaagaaagCgaagcagaagtggatgaaaa	13	3	0	4			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:88732603C>T	ENST00000226284.5	+	7	562	c.495C>T	c.(493-495)agC>agT	p.S165S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	165	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification			p.S165S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		acgaagaaagcgaagcagaag	0.458													False	0	False	4:88732603	0	T	88732603	C	T	88732603	2	4	40	1	0	0	0	0	0	0	0	1	7525	767	27	1		1	IBSP	4	88732603	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	438643	88732603	102421673	28	3165											
KIAA0922	23240	broad.mit.edu	37	chr4	154542991	154542991	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcagtttacctgctgcccaGagagaggcaggtatgtaatg	13	8	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:154542991G>T	ENST00000409663.3	+	28	3898	c.3846G>T	c.(3844-3846)caG>caT	p.Q1282H	KIAA0922_ENST00000440693.1_Missense_Mutation_p.Q1199H|KIAA0922_ENST00000409959.3_Missense_Mutation_p.Q1283H	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1282						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGCTGCCCAGAGAGAGGCAG	0.423													False	0	True	4:154542991	0	T	154542991	G	T	154542991	3	4	40	1	0	0	0	0	1	0	0	0	8251	933	33	3	3959	3	KIAA0922	4	154542991	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	65810388	154542991	36611285	29	3166											
ADAMTS16	170690	broad.mit.edu	37	chr5	5235183	5235183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcactctgaagctctgcaAcagtcagaaatgtccccggg	10	13	3	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:5235183A>G	ENST00000274181.7	+	13	2045	c.1907A>G	c.(1906-1908)aAc>aGc	p.N636S	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	636	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AAGCTCTGCAACAGTCAGAAA	0.502													False	0	False	5:5235183	0	G	5235183	A	G	5235183	3	3	40	1	0	0	0	0	1	0	0	0	261	43	2	4	1957	4	ADAMTS16	5	5235183	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08		5235183	175680077	30	3167											
FAM105A	54491	broad.mit.edu	37	chr5	14610393	14610393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctccctgctgaccgagaaCgaccgccactaccacattcc	6	18	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:14610393C>T	ENST00000274217.3	+	8	1161	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	347								p.N347N(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGACCGAGAACGACCGCCACT	0.532													False	0	False	5:14610393	0	T	14610393	C	T	14610393	2	4	40	1	0	0	0	0	0	0	0	1	5423	535	19	1		1	FAM105A	5	14610393	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	9375210	14610393	166304867	31	3168											
KLHL3	26249	broad.mit.edu	37	chr5	136997650	136997650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagtcggacatgttccAtcagctttgccatgtgctct	11	10	2	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:136997650A>G	ENST00000508657.1	-	7	1325	c.611T>C	c.(610-612)aTg>aCg	p.M204T	KLHL3_ENST00000394937.3_Missense_Mutation_p.M236T|KLHL3_ENST00000506491.1_Missense_Mutation_p.M154T|KLHL3_ENST00000541417.1_Missense_Mutation_p.M116T|KLHL3_ENST00000309755.4_Missense_Mutation_p.M236T|KLHL3_ENST00000506873.1_5'UTR	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	236						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GACATGTTCCATCAGCTTTGC	0.443													False	0	False	5:136997650	0	G	136997650	A	G	136997650	3	3	40	1	0	0	0	0	1	0	0	0	8433	217	8	4	1092	4	KLHL3	5	136997650	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	122387257	136997650	43917610	32	3169											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	40	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-FB-A5VM-01A-11D-A32N-08		7393450	163721617	33	3170											
HIVEP1	3096	broad.mit.edu	37	chr6	12121002	12121002	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgccaaacttgaacaggTttataatatagcagtgacat	8	6	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:12121002T>C	ENST00000379388.2	+	4	1306	c.974T>C	c.(973-975)gTt>gCt	p.V325A		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	325					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGAACAGGTTTATAATATA	0.423													False	0	True	6:12121002	0	C	12121002	T	C	12121002	3	2	40	1	0	0	0	0	1	0	0	0	7233	1725	60	4	984	4	HIVEP1	6	12121002	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	4727552	12121002	158994065	34	3171											
BTN3A1	0	broad.mit.edu	37	chr6	26413540	26413540	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attattgtgttctcggctgtGagagcttcatatcagggaga	12	6	3	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:26413540G>A	ENST00000289361.6	+	10	1530	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	BTN3A1_ENST00000414912.2_Missense_Mutation_p.E336K	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	388	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTCGGCTGTGAGAGCTTCAT	0.512													False	0	False	6:26413540	0	A	26413540	G	A	26413540	3	1	40	1	0	0	0	0	1	0	0	0	1569	1291	45	2	1364	2	BTN3A1	6	26413540	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	14292538	26413540	144701527	35	3172											
KIFC1	3833	broad.mit.edu	37	chr6	33374225	33374225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccattaacagcagcctgTccacgctggggctggttatc	12	12	0	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:33374225T>C	ENST00000428849.2	+	8	2239	c.1789T>C	c.(1789-1791)Tcc>Ccc	p.S597P		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	597					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CAGCAGCCTGTCCACGCTGGG	0.637													False	0	False	6:33374225	0	C	33374225	T	C	33374225	3	2	40	1	0	0	0	0	1	0	0	0	8362	1667	58	4	1819	4	KIFC1	6	33374225	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	6960685	33374225	137740842	36	3173											
ITPR3	3710	broad.mit.edu	37	chr6	33659689	33659689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtgggcgacattctccGcaagccctccaaagatgtga	12	12	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:33659689G>A	ENST00000374316.5	+	55	8502	c.7442G>A	c.(7441-7443)cGc>cAc	p.R2481H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2481H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2481					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GACATTCTCCGCAAGCCCTCC	0.592													False	0	False	6:33659689	0	A	33659689	G	A	33659689	3	1	40	1	0	0	0	0	1	0	0	0	7972	1087	38	1	7656	1	ITPR3	6	33659689	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	285464	33659689	137455378	37	3174											
BAI3	577	broad.mit.edu	37	chr6	69728368	69728369	+	Frame_Shift_Ins	INS	-	-	G													atgatggactttcagaattcINSatacttaatgactggaaatg							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:69728368_69728369insG	ENST00000370598.1	+	13	2905_2906	c.2084_2085insG	c.(2083-2088)tcatacfs	p.Y696fs		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	696					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTCAGAATTCATACTTAATGA	0.327													False	0	False	6:69728368	0	G	69728369	-	G	69728368	7	5	40	1	0	1	1	0	0	0	0	0	1304	838	29	0	2126	0	BAI3	6	69728368	Frame_Shift_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	36068679	69728368	101386699	38	3175											
PHIP	55023	broad.mit.edu	37	chr6	79735751	79735752	+	Frame_Shift_Ins	INS	-	-	AGGTAATTGTCTTAATCCCTATACATTGTTGTTGTTG													tcggatcattttatcacaacINSttccagctgctatcatggta							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:79735751_79735752insAGGTAATTGTCTTAATCCCTATACATTGTTGTTGTTG	ENST00000275034.4	-	8	897_898	c.730_731insCAACAACAACAATGTATAGGGATTAAGACAATTACCT	c.(730-732)agtfs	p.S244fs		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	244					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTTATCACAACTTCCAGCTGCT	0.441													False	0	False	6:79735751	0	AGGTAATTGTCTTAATCCCTATACATTGTTGTTGTTG	79735752	-	AGGTAATTGTCTTAATCCCTATACATTGTTGTTGTTG	79735751	7	5	40	1	0	1	1	0	0	0	0	0	11911	565	20	0	4866	0	PHIP	6	79735751	Frame_Shift_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	10007383	79735751	91379316	39	3176											
MDN1	23195	broad.mit.edu	37	chr6	90422465	90422465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccccaggtttcatgtgctCgcaaagaagaaacatgtttc	8	11	1	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:90422465C>T	ENST00000369393.3	-	48	7374	c.7259G>A	c.(7258-7260)cGa>cAa	p.R2420Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R2420Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2420					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCATGTGCTCGCAAAGAAGA	0.448													False	0	False	6:90422465	0	T	90422465	C	T	90422465	3	4	40	1	0	0	0	0	1	0	0	0	9482	884	31	1	9751	1	MDN1	6	90422465	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	10686714	90422465	80692602	40	3177											
SLC16A10	117247	broad.mit.edu	37	chr6	111493921	111493921	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtaggttctctctccatgGggatgattttcttttgctgc	12	8	3	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:111493921G>T	ENST00000368851.5	+	2	542	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	123					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TCTCTCCATGGGGATGATTTT	0.428													False	0	True	6:111493921	0	T	111493921	G	T	111493921	3	4	40	1	0	0	0	0	1	0	0	0	14484	1232	43	3	373	3	SLC16A10	6	111493921	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	21071456	111493921	59621146	41	3178											
ELMO1	9844	broad.mit.edu	37	chr7	36917614	36917614	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaaggagagctacttaCgtttgtcctgcaaggaatcg	11	10	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:36917614C>T	ENST00000310758.4	-	19	2470		c.e19+1		ELMO1_ENST00000396040.2_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000396045.3_Splice_Site|ELMO1_ENST00000341056.3_Splice_Site	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1						actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAGCTACTTACGTTTGTCCTG	0.488													False	0	False	7:36917614	0	T	36917614	C	T	36917614	5	4	40	1	0	0	0	0	0	0	1	0	5097	550	19	1	376	1	ELMO1	7	36917614	Splice_Site	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		36917614	122221049	42	3179											
GJC3	349149	broad.mit.edu	37	chr7	99521174	99521174	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agttcatctccaactcaggcAtctctgggtccaactggtct	8	13	5	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:99521174A>T	ENST00000312891.2	-	2	833	c.834T>A	c.(832-834)gaT>gaA	p.D278E		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	278						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					caactcaggcatctctgggtc	0.388													False	0	False	7:99521174	0	T	99521174	A	T	99521174	3	4	40	1	0	0	0	0	1	0	0	0	6461	214	8	5	9	5	GJC3	7	99521174	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	62603560	99521174	59617489	43	3180											
SLC12A9	56996	broad.mit.edu	37	chr7	100460407	100460407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctaaccctctcaccctccGtgcgccagggggctcagcat	9	17	3	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:100460407G>A	ENST00000354161.3	+	13	1941	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	SLC12A9_ENST00000540482.1_Missense_Mutation_p.V606M|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V517M|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V606M|SLC12A9_ENST00000415287.1_Missense_Mutation_p.V517M	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	606						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCACCCTCCGTGCGCCAGGG	0.637													False	0	False	7:100460407	0	A	100460407	G	A	100460407	3	1	40	1	0	0	0	0	1	0	0	0	14471	1145	40	1	1862	1	SLC12A9	7	100460407	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	939233	100460407	58678256	44	3181											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432633	117432633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcctcttctaattcattcGtctttttcttttcctcttcc	2	13	6	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:117432633G>A	ENST00000160373.3	-	4	708	c.617C>T	c.(616-618)aCg>aTg	p.T206M		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	206										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TAATTCATTCGTCTTTTTCTT	0.463													False	0	True	7:117432633	0	A	117432633	G	A	117432633	3	1	40	1	0	0	0	0	1	0	0	0	4070	1145	40	1	4454	1	CTTNBP2	7	117432633	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	16972226	117432633	41706030	45	3182											
RP1L1	94137	broad.mit.edu	37	chr8	10470231	10470231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgagccctcggggaggccGgtgctggaggctgggctggc	20	12	0	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:10470231G>A	ENST00000382483.3	-	4	1600	c.1377C>T	c.(1375-1377)acC>acT	p.T459T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	459					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGGGGAGGCCGGTGCTGGAGG	0.726													False	0	False	8:10470231	0	A	10470231	G	A	10470231	2	1	40	1	0	0	0	0	0	0	0	1	13612	1103	39	1		1	RP1L1	8	10470231	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		10470231	135893791	46	3183											
RIMS2	9699	broad.mit.edu	37	chr8	105026802	105026802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcgcaggacgaaggggccGacagcttccacagcttccac	12	14	0	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:105026802G>A	ENST00000507740.1	+	17	2971	c.2735G>A	c.(2734-2736)cGa>cAa	p.R912Q	RIMS2_ENST00000406091.3_Missense_Mutation_p.R1098Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.R838Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R937Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1160	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGAAGGGGCCGACAGCTTCCA	0.443										HNSCC(12;0.0054)			False	0	False	8:105026802	0	A	105026802	G	A	105026802	3	1	40	1	0	0	0	0	1	0	0	0	13447	1058	37	1	3563	1	RIMS2	8	105026802	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	94556571	105026802	41337220	47	3184											
KCNQ3	3786	broad.mit.edu	37	chr8	133142050	133142050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagctgtagggtggttccGgggggcctgtctcagaatag	18	7	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:133142050G>A	ENST00000388996.4	-	15	2498	c.2078C>T	c.(2077-2079)cCg>cTg	p.P693L	KCNQ3_ENST00000521134.1_Missense_Mutation_p.P573L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P681L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	693					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E694fs*12(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGTGGTTCCGGGGGGCCTGT	0.547													False	0	True	8:133142050	0	A	133142050	G	A	133142050	3	1	40	1	0	0	0	0	1	0	0	0	8134	1116	39	1	544	1	KCNQ3	8	133142050	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	28115248	133142050	13221972	48	3185											
KCNQ3	3786	broad.mit.edu	37	chr8	133153411	133153411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagcgtaggctttcatgCggaaggccgtgcggaaacgc	15	9	1	1	rs141821338		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:133153411C>T	ENST00000388996.4	-	10	1850	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R357H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R477H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	477					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R477H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGCTTTCATGCGGAAGGCCGT	0.473													False	0	False	8:133153411	0	T	133153411	C	T	133153411	3	4	40	1	0	0	0	0	1	0	0	0	8134	768	27	1	1212	1	KCNQ3	8	133153411	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	11361	133153411	13210611	49	3186											
COMMD5	28991	broad.mit.edu	37	chr8	146076505	146076505	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctccggcaggttggcgctGaccccaagacgctgcacagc	12	16	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:146076505G>A	ENST00000450361.2	-	2	640	c.219C>T	c.(217-219)gtC>gtT	p.V73V	COMMD5_ENST00000402718.3_Silent_p.V73V|COMMD5_ENST00000305103.3_Silent_p.V73V	NM_001081003.1	NP_001074472.1	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	73						nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GGTTGGCGCTGACCCCAAGAC	0.647													False	0	False	8:146076505	0	A	146076505	G	A	146076505	2	1	40	1	0	0	0	0	0	0	0	1	3742	1277	45	2		2	COMMD5	8	146076505	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	12923094	146076505	287517	50	3187											
PRSS3	5646	broad.mit.edu	37	chr9	33796802	33796803	+	Splice_Site	INS	-	-	TGG													agctcactgctacaagacgtINSaagtgtggggcccctgactg							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:33796802_33796803insTGG	ENST00000361005.5	+	2	371		c.e2+2		PRSS3_ENST00000342836.4_Splice_Site|PRSS3_ENST00000429677.3_Splice_Site|PRSS3_ENST00000379405.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3						digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CTACAAGACGTAAGTGTGGGGC	0.594													False	0	False	9:33796802	0	TGG	33796803	-	TGG	33796802	8	5	40	1	0	1	1	0	0	0	1	0	12698	1652	57	0	423	0	PRSS3	9	33796802	Splice_Site	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08		33796802	107416629	51	3188											
DUPD1	338599	broad.mit.edu	37	chr10	76797813	76797813	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgaccggctgcggcccatGacgcagtgaaccaggatctt	13	13	1	3			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:76797813G>A	ENST00000338487.5	-	3	443	c.444C>T	c.(442-444)gtC>gtT	p.V148V		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	148	Substrate binding (Probable).|Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGCGGCCCATGACGCAGTGAA	0.617													False	0	False	10:76797813	0	A	76797813	G	A	76797813	2	1	40	1	0	0	0	0	0	0	0	1	4834	1277	45	2		2	DUPD1	10	76797813	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		76797813	58736934	52	3189											
PWWP2B	170394	broad.mit.edu	37	chr10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttcagccccccgagaccAcccgccccgagccacccccg	10	23	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756													False	0	True	10:134218293	0	C	134218293	A	C	134218293	3	2	40	1	0	0	0	0	1	0	0	0	12925	159	6	4	295	4	PWWP2B	10	134218293	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	57420480	134218293	1316454	53	3190											
IGSF22	283284	broad.mit.edu	37	chr11	18736985	18736985	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agggcgggtgttaccctccaCagtgacgatggcagtactgt	14	10	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:18736985C>G	ENST00000513874.1	-	11	1664	c.1525G>C	c.(1525-1527)Gtg>Ctg	p.V509L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	509										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTACCCTCCACAGTGACGATG	0.547													False	0	False	11:18736985	0	G	18736985	C	G	18736985	3	3	40	1	0	0	0	0	1	0	0	0	7650	478	17	5	2507	5	IGSF22	11	18736985	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		18736985	116269531	54	3191											
ANO5	203859	broad.mit.edu	37	chr11	22281145	22281145	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatttgctagtttcatggaAagtgatgcatccttaaagca	8	7	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:22281145A>G	ENST00000324559.8	+	15	1805	c.1488A>G	c.(1486-1488)gaA>gaG	p.E496E		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	496						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTCATGGAAAGTGATGCAT	0.413													False	0	True	11:22281145	0	G	22281145	A	G	22281145	2	3	40	1	0	0	0	0	0	0	0	1	700	11	1	4		4	ANO5	11	22281145	Silent	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	3544160	22281145	112725371	55	3192											
FBXO3	26273	broad.mit.edu	37	chr11	33763529	33763529	+	Silent	SNP	T	T	C													cgtctctcctcttcatcatcTtcatctgattcatccatatc							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:33763529T>C	ENST00000526785.1	-	10	4753	c.1002A>G	c.(1000-1002)gaA>gaG	p.E334E	FBXO3_ENST00000265651.3_Silent_p.E447E|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000531080.1_Silent_p.E134E|FBXO3_ENST00000532057.1_Silent_p.E134E			Q9UK99	FBX3_HUMAN	F-box protein 3	447	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CTTCATCATCTTCATCTGATT	0.478													False	0	True	11:33763529	0	C	33763529	T	C	33763529	2	2	40	1	0	0	0	0	0	0	0	1	5779	1606	56	4		4	FBXO3	11	33763529	Silent	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	11482384	33763529	101242987	56	3193	34	2									
FBXO3	26273	broad.mit.edu	37	chr11	33763531	33763531	+	Missense_Mutation	SNP	C	C	T													tctctcctcttcatcatcttCatctgattcatccatatctg							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:33763531C>T	ENST00000526785.1	-	10	4751	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	FBXO3_ENST00000265651.3_Missense_Mutation_p.E447K|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000531080.1_Missense_Mutation_p.E134K|FBXO3_ENST00000532057.1_Missense_Mutation_p.E134K			Q9UK99	FBX3_HUMAN	F-box protein 3	447	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TCATCATCTTCATCTGATTCA	0.483													False	0	True	11:33763531	0	T	33763531	C	T	33763531	3	4	40	1	0	0	0	0	1	0	0	0	5779	835	29	2	80	2	FBXO3	11	33763531	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	2	33763531	101242985	57	3194	34	2									
OR5M3	219482	broad.mit.edu	37	chr11	56237570	56237570	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtcgaatacagacaacccttGacattttactgccataaagc	6	11	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:56237570G>C	ENST00000312240.2	-	1	444	c.404C>G	c.(403-405)tCa>tGa	p.S135*		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GACAACCCTTGACATTTTACT	0.408													False	0	False	11:56237570	0	C	56237570	G	C	56237570	4	2	40	1	0	0	0	0	0	1	0	0	11243	1294	45	5	521	5	OR5M3	11	56237570	Nonsense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	22474039	56237570	78768946	58	3195											
GIF	2694	broad.mit.edu	37	chr11	59599213	59599213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtgattaacattttccGcgatattgttgatagaagag	9	5	1	4			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:59599213G>A	ENST00000541311.1	-	8	1289	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	GIF_ENST00000257248.2_Missense_Mutation_p.A377V			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	377					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	p.A377V(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						AACATTTTCCGCGATATTGTT	0.368													False	0	False	11:59599213	0	A	59599213	G	A	59599213	3	1	40	1	0	0	0	0	1	0	0	0	6421	1087	38	1	131	1	GIF	11	59599213	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	3361643	59599213	75407303	59	3196											
PLCB3	5331	broad.mit.edu	37	chr11	64026576	64026576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaggacctgatgggccGtatcctggtgaagaacaaga	12	12	0	4			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:64026576G>A	ENST00000540288.1	+	13	1488	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	PLCB3_ENST00000325234.5_Missense_Mutation_p.R395H|PLCB3_ENST00000279230.6_Missense_Mutation_p.R462H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	462	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTGATGGGCCGTATCCTGGTG	0.706													False	0	False	11:64026576	0	A	64026576	G	A	64026576	3	1	40	1	0	0	0	0	1	0	0	0	12098	1145	40	1	1435	1	PLCB3	11	64026576	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	4427363	64026576	70979940	60	3197											
KRAS	3845	broad.mit.edu	37	chr12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgcactgtactcctcTtgacctgctgtgtcgagaat	8	12	2	2	rs17851045		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:25380275T>G	ENST00000311936.3	-	3	374	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25380275	0	G	25380275	T	G	25380275	3	3	40	1	0	0	0	0	1	0	0	0	8488	1606	56	4	519	4	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08		25380275	108471620	61	3198											
RBM19	9904	broad.mit.edu	37	chr12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgcctgaaggccttgCgggcctccaggggctccagg	15	14	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:114377796C>T	ENST00000545145.2	-	15	1985	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	RBM19_ENST00000392561.3_Missense_Mutation_p.R636H|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	636	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAGGCCTTGCGGGCCTCCAG	0.622													False	0	True	12:114377796	0	T	114377796	C	T	114377796	3	4	40	1	0	0	0	0	1	0	0	0	13200	768	27	1	1015	1	RBM19	12	114377796	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	88997521	114377796	19474099	62	3199											
MCF2L	23263	broad.mit.edu	37	chr13	113656268	113656268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgccgggacctctgggCgctgtggctgctgctgaagg	18	11	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr13:113656268C>A	ENST00000423482.2	+	1	238	c.44C>A	c.(43-45)gCg>gAg	p.A15E	MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000397024.1_Missense_Mutation_p.A15E|MCF2L_ENST00000375597.4_Missense_Mutation_p.A15E|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000535094.2_Intron	NM_024979.4	NP_079255.4	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GACCTCTGGGCGCTGTGGCTG	0.756													False	0	True	13:113656268	0	A	113656268	C	A	113656268	3	1	40	1	0	0	0	0	1	0	0	0	9446	783	27	3		3	MCF2L	13	113656268	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		113656268	1513610	63	3200											
PACS2	23241	broad.mit.edu	37	chr14	105818795	105818797	+	In_Frame_Del	DEL	CTC	CTC	-													acagacctggccctgaccttCtccttgcaggtgagtctttc							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:105818795_105818797delCTC	ENST00000325438.8	+	3	792_794	c.288_290delCTC	c.(286-291)ttctcc>ttc	p.S97del	PACS2_ENST00000447393.1_In_Frame_Del_p.S97del|PACS2_ENST00000430725.2_In_Frame_Del_p.S30del|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000458164.2_In_Frame_Del_p.S97del			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	97					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCTGACCTTCTCCTTGCAGGTG	0.616											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	1	False	14:105818795	0	-	105818797	CTC	-	105818795	7	5	40	1	0	1	0	1	0	0	0	0	11441	912	32	0	298	0	PACS2	14	105818795	In_Frame_Del	DEL	CTC	TCGA-FB-A5VM-01A-11D-A32N-08		105818795	1530745	64	3201											
RGMA	56963	broad.mit.edu	37	chr15	93595475	93595475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcctggctgtctccggcCggtgggagcgtgcgcaggcg	18	14	1	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:93595475C>T	ENST00000329082.7	-	3	664	c.393G>A	c.(391-393)ccG>ccA	p.P131P	RGMA_ENST00000556658.1_Silent_p.P22P|RGMA_ENST00000557301.1_Silent_p.P139P|RGMA_ENST00000538818.1_Silent_p.P22P|RGMA_ENST00000425933.2_Silent_p.P115P|RGMA_ENST00000543599.1_Silent_p.P115P|RGMA_ENST00000542321.2_Silent_p.P115P|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000556087.1_Silent_p.P115P	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	131					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGTCTCCGGCCGGTGGGAGCG	0.647													False	0	True	15:93595475	0	T	93595475	C	T	93595475	2	4	40	1	0	0	0	0	0	0	0	1	13359	639	23	1		1	RGMA	15	93595475	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		93595475	8935917	65	3202											
FLYWCH1	84256	broad.mit.edu	37	chr16	2979735	2979735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgagagtgtgaaggccGgccaggagccatcccccaag	16	12	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:2979735G>A	ENST00000399667.2	+	3	412	c.49G>A	c.(49-51)Ggc>Agc	p.G17S	FLYWCH1_ENST00000253928.9_Missense_Mutation_p.G17S|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.G17S			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	17						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						TGTGAAGGCCGGCCAGGAGCC	0.692													False	0	True	16:2979735	0	A	2979735	G	A	2979735	3	1	40	1	0	0	0	0	1	0	0	0	5987	1116	39	1	51	1	FLYWCH1	16	2979735	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		2979735	87375018	66	3203											
SEPHS2	22928	broad.mit.edu	37	chr16	30455811	30455811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtcaatgatccgggccGttcggtttcccttttccaca	9	13	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:30455811G>A	ENST00000478753.2	-	1	1691	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	SEPHS2_ENST00000500504.2_Missense_Mutation_p.T413M|SEPHS2_ENST00000542752.1_Missense_Mutation_p.T356M			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	413					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						GATCCGGGCCGTTCGGTTTCC	0.537													False	0	False	16:30455811	0	A	30455811	G	A	30455811	3	1	40	1	0	0	0	0	1	0	0	0	14136	1145	40	1	112	1	SEPHS2	16	30455811	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	27476076	30455811	59898942	67	3204											
PHKB	5257	broad.mit.edu	37	chr16	47683068	47683068	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgattattttcgacctaagtGatttctacatgtctcaggat	7	8	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:47683068G>A	ENST00000455779.1	+	19	1914	c.1729G>A	c.(1729-1731)Gat>Aat	p.D577N	PHKB_ENST00000566044.1_Missense_Mutation_p.D577N|PHKB_ENST00000299167.8_Missense_Mutation_p.D584N|PHKB_ENST00000323584.5_Missense_Mutation_p.D584N			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	584					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CGACCTAAGTGATTTCTACAT	0.343													False	0	False	16:47683068	0	A	47683068	G	A	47683068	3	1	40	1	0	0	0	0	1	0	0	0	11914	1290	45	2	1879	2	PHKB	16	47683068	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	17227257	47683068	42671685	68	3205											
PARD6A	50855	broad.mit.edu	37	chr16	67695975	67695975	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctactgcctgagacccacCgacgggtgcggctgcacaag	12	15	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:67695975C>T	ENST00000458121.2	+	3	554	c.463C>T	c.(463-465)Cga>Tga	p.R155*	PARD6A_ENST00000602551.1_Nonsense_Mutation_p.R126*|PARD6A_ENST00000219255.3_Nonsense_Mutation_p.R156*	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	156	Interaction with PARD3 and CDC42 (By similarity).				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGAGACCCACCGACGGGTGCG	0.647													False	0	False	16:67695975	0	T	67695975	C	T	67695975	4	4	40	1	0	0	0	0	0	1	0	0	11513	644	23	1	476	1	PARD6A	16	67695975	Nonsense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	20012907	67695975	22658778	69	3206											
PMFBP1	83449	broad.mit.edu	37	chr16	72159998	72159998	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttgtccagctgggcctGcaggctcattaaggactcct	11	12	1	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:72159998G>A	ENST00000537465.1	-	15	2295	c.2137C>T	c.(2137-2139)Cag>Tag	p.Q713*	PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q563*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.Q708*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	713										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGCTGGGCCTGCAGGCTCATT	0.527													False	0	False	16:72159998	0	A	72159998	G	A	72159998	4	1	40	1	0	0	0	0	0	1	0	0	12203	1328	46	2	989	2	PMFBP1	16	72159998	Nonsense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	4464023	72159998	18194755	70	3207											
WSCD1	23302	broad.mit.edu	37	chr17	5984019	5984019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actccagaagtttctccgccGaacacagttcctgctgttct	7	14	2	1	rs148296936		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:5984019G>A	ENST00000574946.1	+	2	431	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	WSCD1_ENST00000317744.5_Missense_Mutation_p.R14Q|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.R14Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1	14						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TTTCTCCGCCGAACACAGTTC	0.672													False	0	False	17:5984019	0	A	5984019	G	A	5984019	3	1	40	1	0	0	0	0	1	0	0	0	17490	1058	37	1	43	1	WSCD1	17	5984019	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		5984019	75211191	71	3208											
LLGL1	3996	broad.mit.edu	37	chr17	18138848	18138848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcgagggctgctgctgaCggggtaggtgtgcgtgctta	18	8	0	1	rs141275484		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:18138848C>T	ENST00000316843.4	+	11	1445	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	450					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CTGCTGCTGACGGGGTAGGTG	0.652													False	0	True	17:18138848	0	T	18138848	C	T	18138848	3	4	40	1	0	0	0	0	1	0	0	0	8886	536	19	1	1391	1	LLGL1	17	18138848	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	12154829	18138848	63056362	72	3209											
TAOK1	57551	broad.mit.edu	37	chr17	27807459	27807459	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgactttggctctgcttccAtggcatcacctgccaattcc	7	15	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:27807459A>T	ENST00000261716.3	+	7	1042	c.523A>T	c.(523-525)Atg>Ttg	p.M175L	TAOK1_ENST00000536202.1_Missense_Mutation_p.M175L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	175	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CTCTGCTTCCATGGCATCACC	0.418													False	0	False	17:27807459	0	T	27807459	A	T	27807459	3	4	40	1	0	0	0	0	1	0	0	0	15629	217	8	5	545	5	TAOK1	17	27807459	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	9668611	27807459	53387751	73	3210											
FBXL20	84961	broad.mit.edu	37	chr17	37420484	37420484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtcatagagttctatccGctcaaggctatgacagctct	9	11	4	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:37420484G>A	ENST00000264658.6	-	14	1407	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	FBXL20_ENST00000394294.3_Missense_Mutation_p.R351W|FBXL20_ENST00000583610.1_Missense_Mutation_p.R383W|FBXL20_ENST00000577399.1_Missense_Mutation_p.R385W	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	383						cytoplasm		p.R383W(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AGTTCTATCCGCTCAAGGCTA	0.512													False	0	False	17:37420484	0	A	37420484	G	A	37420484	3	1	40	1	0	0	0	0	1	0	0	0	5757	1086	38	1	171	1	FBXL20	17	37420484	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	9613025	37420484	43774726	74	3211											
KRTAP9-3	83900	broad.mit.edu	37	chr17	39389179	39389179	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaccacctgctgcaggacCacttgtttccagcccacctg	9	16	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:39389179C>A	ENST00000411528.2	+	1	465	c.426C>A	c.(424-426)acC>acA	p.T142T		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	142	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCAGGACCACTTGTTTCC	0.567													False	0	False	17:39389179	0	A	39389179	C	A	39389179	2	1	40	1	0	0	0	0	0	0	0	1	8625	581	21	3		3	KRTAP9-3	17	39389179	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	1968695	39389179	41806031	75	3212											
XYLT2	64132	broad.mit.edu	37	chr17	48431870	48431870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtggttcacggccgcGccatccgccagctgaagcgt	14	14	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:48431870G>A	ENST00000017003.2	+	3	779	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	XYLT2_ENST00000507602.1_Missense_Mutation_p.A244T	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	244					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCACGGCCGCGCCATCCGCCA	0.612													False	0	False	17:48431870	0	A	48431870	G	A	48431870	3	1	40	1	0	0	0	0	1	0	0	0	17548	1087	38	1	740	1	XYLT2	17	48431870	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	9042691	48431870	32763340	76	3213											
ABCA10	10349	broad.mit.edu	37	chr17	67183986	67183986	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatctccagtatttcttgtCacatgtattttctcttgttt	4	9	5	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:67183986C>A	ENST00000269081.4	-	20	3075	c.2166G>T	c.(2164-2166)gtG>gtT	p.V722V	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	722					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TATTTCTTGTCACATGTATTT	0.348													False	0	False	17:67183986	0	A	67183986	C	A	67183986	2	1	40	1	0	0	0	0	0	0	0	1	29	813	29	3		3	ABCA10	17	67183986	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	18752116	67183986	14011224	77	3214											
DSG4	147409	broad.mit.edu	37	chr18	28991322	28991322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaggagcctcaggggccGcaaggaagaggagctctacc	15	13	2	1	rs145949758		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:28991322G>A	ENST00000359747.4	+	14	2352	c.2323G>A	c.(2323-2325)Gca>Aca	p.A775T	DSG4_ENST00000308128.4_Missense_Mutation_p.A756T|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	756					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ctcaggggccgcaAGGAAGAG	0.617													False	0	False	18:28991322	0	A	28991322	G	A	28991322	3	1	40	1	0	0	0	0	1	0	0	0	4809	1087	38	1	2445	1	DSG4	18	28991322	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		28991322	49085926	78	3215											
GALNT1	2589	broad.mit.edu	37	chr18	33289706	33289706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccagcagtggcttcttcGaaacgtcaccctgccagaaa	9	14	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:33289706G>A	ENST00000269195.5	+	11	1755	c.1652G>A	c.(1651-1653)cGa>cAa	p.R551Q	GALNT1_ENST00000537549.1_Missense_Mutation_p.R491Q	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	551	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TGGCTTCTTCGAAACGTCACC	0.453													False	0	True	18:33289706	0	A	33289706	G	A	33289706	3	1	40	1	0	0	0	0	1	0	0	0	6250	1058	37	1	1694	1	GALNT1	18	33289706	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	4298384	33289706	44787542	79	3216											
COL5A3	50509	broad.mit.edu	37	chr19	10071228	10071228	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggtcttcgtctgtcctttCcggagctgtccccagagaag	12	12	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:10071228C>T	ENST00000264828.3	-	67	5182	c.5097G>A	c.(5095-5097)cgG>cgA	p.R1699R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1699	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTGTCCTTTCCGGAGCTGTC	0.587													False	0	True	19:10071228	0	T	10071228	C	T	10071228	2	4	40	1	0	0	0	0	0	0	0	1	3721	842	30	2		2	COL5A3	19	10071228	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		10071228	49057755	80	3217											
SNRPA	6626	broad.mit.edu	37	chr19	41268935	41268935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcccaccaggggccatgCccccgcagcagcttatgcca	10	17	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:41268935C>T	ENST00000243563.3	+	4	1106	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	186	Pro-rich.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGGGGCCATGCCCCCGCAGCA	0.612													False	0	True	19:41268935	0	T	41268935	C	T	41268935	3	4	40	1	0	0	0	0	1	0	0	0	14939	739	26	2	570	2	SNRPA	19	41268935	Missense_Mutation	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	31197707	41268935	17860048	81	3218											
CIC	23152	broad.mit.edu	37	chr19	42799006	42799006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccgccttccaggcccgctAtgcagacatctttccctcca	7	18	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:42799006A>G	ENST00000572681.2	+	21	7276	c.7208A>G	c.(7207-7209)tAt>tGt	p.Y2403C	CIC_ENST00000575354.2_Missense_Mutation_p.Y1497C|CIC_ENST00000160740.3_Missense_Mutation_p.Y1495C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGGCCCGCTATGCAGACATC	0.587			"Mis, F, S"		oligodendroglioma								False	0	False	19:42799006	0	G	42799006	A	G	42799006	3	3	40	1	0	0	0	0	1	0	0	0	3447	449	16	4	4568	4	CIC	19	42799006	Missense_Mutation	SNP	A	TCGA-FB-A5VM-01A-11D-A32N-08	1530071	42799006	16329977	82	3219											
LIPE	3991	broad.mit.edu	37	chr19	42912459	42912459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtctgcaggaatggccGgatggcaggcgtgaactgtg	18	7	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:42912459G>A	ENST00000244289.4	-	3	1711	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_5'UTR	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	479					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	p.R479W(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGGAATGGCCGGATGGCAGGC	0.627													False	0	False	19:42912459	0	A	42912459	G	A	42912459	3	1	40	1	0	0	0	0	1	0	0	0	8874	1115	39	1	1827	1	LIPE	19	42912459	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	113453	42912459	16216524	83	3220											
KCNN4	3783	broad.mit.edu	37	chr19	44280710	44280710	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tacctggacctctttggcatGaaaggccacgatgaggcaga	12	10	1	3			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:44280710G>C	ENST00000262888.3	-	2	633	c.238C>G	c.(238-240)Cat>Gat	p.H80D		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	80					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TCTTTGGCATGAAAGGCCACG	0.592													False	0	True	19:44280710	0	C	44280710	G	C	44280710	3	2	40	1	0	0	0	0	1	0	0	0	8131	1290	45	5	1073	5	KCNN4	19	44280710	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	1368251	44280710	14848273	84	3221											
ZNF470	388566	broad.mit.edu	37	chr19	57089013	57089014	+	In_Frame_Ins	INS	-	-	TAA													tattgattgtgggaaggcttINStcactgatcacataggactt							TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:57089013_57089014insTAA	ENST00000330619.8	+	6	1902_1903	c.1216_1217insTAA	c.(1216-1218)ttc>tTAAtc	p.406_406F>LI	ZNF470_ENST00000391709.3_In_Frame_Ins_p.406_406F>LI|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGGGAAGGCTTTCACTGATCAC	0.426													False	0	True	19:57089013	0	TAA	57089014	-	TAA	57089013	7	5	40	1	0	1	1	0	0	0	0	0	18012	1841	64	0	1230	0	ZNF470	19	57089013	In_Frame_Ins	INS	-	TCGA-FB-A5VM-01A-11D-A32N-08	12808303	57089013	2039970	85	3222											
TRIB3	57761	broad.mit.edu	37	chr20	372045	372045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacccagctcctctacgccTttttcactcggacccatggg	8	16	2	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:372045T>C	ENST00000217233.3	+	3	959	c.406T>C	c.(406-408)Ttt>Ctt	p.F136L	TRIB3_ENST00000422053.2_Missense_Mutation_p.F163L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	136	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CCTCTACGCCTTTTTCACTCG	0.672													False	0	True	20:372045	0	C	372045	T	C	372045	3	2	40	1	0	0	0	0	1	0	0	0	16567	1609	56	4	412	4	TRIB3	20	372045	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08		372045	62653475	86	3223											
LRRN4	164312	broad.mit.edu	37	chr20	6021941	6021941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgttggccgccagcacGcacacgcggtaggtggtgcc	15	15	0	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:6021941G>A	ENST00000378858.4	-	5	2174	c.1950C>T	c.(1948-1950)tgC>tgT	p.C650C		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	650	Fibronectin type-III.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGCCAGCACGCACACGCGGT	0.721													False	0	True	20:6021941	0	A	6021941	G	A	6021941	2	1	40	1	0	0	0	0	0	0	0	1	9099	1079	38	1		1	LRRN4	20	6021941	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	5649896	6021941	57003579	87	3224											
DHX35	60625	broad.mit.edu	37	chr20	37623503	37623503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttcgattgattgtagctTcagccactctggatgcagac	9	10	3	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:37623503T>C	ENST00000252011.3	+	8	655	c.622T>C	c.(622-624)Tca>Cca	p.S208P	DHX35_ENST00000373323.4_Missense_Mutation_p.S177P|DHX35_ENST00000373325.2_Missense_Mutation_p.S208P	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	208	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GATTGTAGCTTCAGCCACTCT	0.408													False	0	False	20:37623503	0	C	37623503	T	C	37623503	3	2	40	1	0	0	0	0	1	0	0	0	4538	1783	62	4	652	4	DHX35	20	37623503	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	31601562	37623503	25402017	88	3225											
CASS4	57091	broad.mit.edu	37	chr20	55012332	55012332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacgtgccagaaagcgaggGttggtggaagtgtttgctcc	15	8	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:55012332G>T	ENST00000371336.3	+	2	350	c.149G>T	c.(148-150)gGt>gTt	p.G50V	CASS4_ENST00000360314.3_Missense_Mutation_p.G50V|CASS4_ENST00000434344.1_Missense_Mutation_p.G50V	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	50	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAAAGCGAGGGTTGGTGGAAG	0.602													False	0	True	20:55012332	0	T	55012332	G	T	55012332	3	4	40	1	0	0	0	0	1	0	0	0	2703	1261	44	3	155	3	CASS4	20	55012332	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	17388829	55012332	8013188	89	3226											
ZBP1	81030	broad.mit.edu	37	chr20	56186849	56186849	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggagcctcatctcatTgctgtgtcccagctgcaccc	10	16	2	0			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:56186849T>G	ENST00000340462.4	-	5	1019	c.739A>C	c.(739-741)Aat>Cat	p.N247H	ZBP1_ENST00000343535.4_Missense_Mutation_p.N270H|ZBP1_ENST00000371173.3_Missense_Mutation_p.N270H|ZBP1_ENST00000395822.3_Missense_Mutation_p.N195H			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	270						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTCATCTCATTGCTGTGTCCC	0.632													False	0	False	20:56186849	0	G	56186849	T	G	56186849	3	3	40	1	0	0	0	0	1	0	0	0	17604	1812	63	4	493	4	ZBP1	20	56186849	Missense_Mutation	SNP	T	TCGA-FB-A5VM-01A-11D-A32N-08	1174517	56186849	6838671	90	3227											
LAMA5	3911	broad.mit.edu	37	chr20	60921843	60921843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacagtcggtggcatggccGtagcagttacaggctagaga	14	8	0	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:60921843G>A	ENST00000252999.3	-	8	1152	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	LAMA5_ENST00000370692.3_Silent_p.Y362Y|LAMA5_ENST00000370677.3_Silent_p.Y362Y	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	362	Laminin EGF-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCATGGCCGTAGCAGTTAC	0.667													False	0	False	20:60921843	0	A	60921843	G	A	60921843	2	1	40	1	0	0	0	0	0	0	0	1	8660	1140	40	1		1	LAMA5	20	60921843	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	4734994	60921843	2103677	91	3228											
SUMO3	6612	broad.mit.edu	37	chr21	46229016	46229016	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgtcgaacctgaatctgatCtgcctcattgacaagccctg	8	14	3	3			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr21:46229016C>T	ENST00000332859.6	-	3	328	c.168G>A	c.(166-168)caG>caA	p.Q56Q	SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000397893.3_Silent_p.Q56Q|SUMO3_ENST00000397898.3_Silent_p.Q56Q|SUMO3_ENST00000411651.2_Silent_p.Q94Q	NM_006936.2	NP_008867.2	P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	56	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		TGAATCTGATCTGCCTCATTG	0.532													False	0	True	21:46229016	0	T	46229016	C	T	46229016	2	4	40	1	0	0	0	0	0	0	0	1	15471	912	32	2		2	SUMO3	21	46229016	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08		46229016	1900879	92	3229											
CACNA1I	8911	broad.mit.edu	37	chr22	40015365	40015365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaacctgtcagccatccGcaccgtgcgcgtcctgaggc	10	17	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:40015365G>A	ENST00000336649.4	+	6	533	c.533G>A	c.(532-534)cGc>cAc	p.R178H	CACNA1I_ENST00000400164.3_Missense_Mutation_p.R178H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R178H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R178H			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	178					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCAGCCATCCGCACCGTGCGC	0.617													False	0	False	22:40015365	0	A	40015365	G	A	40015365	3	1	40	1	0	0	0	0	1	0	0	0	2566	1087	38	1	547	1	CACNA1I	22	40015365	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		40015365	11289201	93	3230											
TNRC6B	23112	broad.mit.edu	37	chr22	40662850	40662850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacctaaggatgaggaaccCagtggttgggaagagccatc	13	9	0	2			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:40662850C>T	ENST00000454349.2	+	5	2827	c.2616C>T	c.(2614-2616)ccC>ccT	p.P872P	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Silent_p.P872P|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	872	Pro-rich.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ATGAGGAACCCAGTGGTTGGG	0.552													False	0	True	22:40662850	0	T	40662850	C	T	40662850	2	4	40	1	0	0	0	0	0	0	0	1	16423	581	21	2		2	TNRC6B	22	40662850	Silent	SNP	C	TCGA-FB-A5VM-01A-11D-A32N-08	647485	40662850	10641716	94	3231											
BRWD3	254065	broad.mit.edu	37	chrX	79932804	79932804	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcactaagtagttttctcttGattcctgtccggggctctct	9	11	2	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:79932804G>A	ENST00000373275.4	-	41	4929	c.4713C>T	c.(4711-4713)atC>atT	p.I1571I	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1571										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTTTTCTCTTGATTCCTGTCC	0.368													False	0	False	X:79932804	0	A	79932804	G	A	79932804	2	1	40	1	0	0	0	0	0	0	0	1	1533	1280	45	2		2	BRWD3	23	79932804	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08		79932804	75337756	95	3232											
RGAG1	57529	broad.mit.edu	37	chrX	109695238	109695238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctctagagtaatgtccGcacagttaacaatggccaaa	8	11	1	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:109695238G>A	ENST00000465301.2	+	3	1639	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	465										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGTAATGTCCGCACAGTTAAC	0.512													False	0	False	X:109695238	0	A	109695238	G	A	109695238	3	1	40	1	0	0	0	0	1	0	0	0	13353	1087	38	1	1395	1	RGAG1	23	109695238	Missense_Mutation	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	29762434	109695238	45575322	96	3233											
ATP2B3	492	broad.mit.edu	37	chrX	152806983	152806983	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgtctctctgggcctctcGttctatgcgccgccaggaga	11	14	4	1			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:152806983G>T	ENST00000370186.1	+	3	701	c.375G>T	c.(373-375)tcG>tcT	p.S125S	ATP2B3_ENST00000359149.3_Silent_p.S125S|ATP2B3_ENST00000263519.4_Silent_p.S125S|ATP2B3_ENST00000370181.2_Silent_p.S125S|ATP2B3_ENST00000349466.2_Silent_p.S125S|ATP2B3_ENST00000393842.1_Silent_p.S125S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	125					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCCTCTCGTTCTATGCGC	0.622													False	0	False	X:152806983	0	T	152806983	G	T	152806983	2	4	40	1	0	0	0	0	0	0	0	1	1145	1132	40	3		3	ATP2B3	23	152806983	Silent	SNP	G	TCGA-FB-A5VM-01A-11D-A32N-08	43111745	152806983	2463577	97	3234											
CA6	765	broad.mit.edu	37	chr1	9011554	9011554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaagcacaaaggccaaaGgcagtggctttgttcaccct	12	11	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:9011554G>A	ENST00000480186.3	+	3	337	c.332G>A	c.(331-333)aGg>aAg	p.R111K	CA6_ENST00000377436.3_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377443.2_Intron|CA6_ENST00000377442.2_Intron			P23280	CAH6_HUMAN	carbonic anhydrase VI						one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGGCCAAAGGCAGTGGCTT	0.552													False	0	True	1:9011554	0	A	9011554	G	A	9011554	3	1	41	1	0	0	0	0	1	0	0	0	2541	1015	35	2		2	CA6	1	9011554	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		9011554	240239067	1	3235											
MANEAL	149175	broad.mit.edu	37	chr1	38265867	38265867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagagaaggagcagtggCtcatgtgaggggcctgtaaa	15	6	2	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:38265867C>T	ENST00000373045.6	+	4	1747	c.1366C>T	c.(1366-1368)Ctc>Ttc	p.L456F	MANEAL_ENST00000329006.5_Missense_Mutation_p.L234F|MANEAL_ENST00000525897.1_Missense_Mutation_p.L262F|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000397631.3_3'UTR	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	456						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGAGCAGTGGCTCATGTGAGG	0.582													False	0	False	1:38265867	0	T	38265867	C	T	38265867	3	4	41	1	0	0	0	0	1	0	0	0	9289	797	28	2	1380	2	MANEAL	1	38265867	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	29254313	38265867	210984754	2	3236											
SLC35D1	23169	broad.mit.edu	37	chr1	67487220	67487220	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggtaacaaaggcttacccCatcacacaggagagggtgaa	11	9	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:67487220C>A	ENST00000235345.5	-	9	880	c.795G>T	c.(793-795)atG>atT	p.M265I	SLC35D1_ENST00000506472.2_Missense_Mutation_p.M186I	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	265					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	AGGCTTACCCCATCACACAGG	0.423													False	0	True	1:67487220	0	A	67487220	C	A	67487220	3	1	41	1	0	0	0	0	1	0	0	0	14661	594	21	3	288	3	SLC35D1	1	67487220	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	29221353	67487220	181763401	3	3237											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150528719	150528719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtgatgattctacctgtCgccttgtttcggggaacctc	13	10	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:150528719C>T	ENST00000271643.4	+	9	1689	c.1453C>T	c.(1453-1455)Cgc>Tgc	p.R485C	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R485C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R508C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R485C	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	485					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTCTACCTGTCGCCTTGTTTC	0.612													False	0	False	1:150528719	0	T	150528719	C	T	150528719	3	4	41	1	0	0	0	0	1	0	0	0	277	884	31	1	1479	1	ADAMTSL4	1	150528719	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	83041499	150528719	98721902	4	3238											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	41	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-FB-A78T-01A-12D-A32N-08	2142796	152671515	96579106	5	3239											
LCE1A	353131	broad.mit.edu	37	chr1	152800035	152800035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgccccactcctaagtgCcccccaaagtgtccccctaa	6	18	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:152800035C>T	ENST00000335123.2	+	1	87	c.87C>T	c.(85-87)tgC>tgT	p.C29C		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	29	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctcctaagtgccccccaaagt	0.667													False	0	True	1:152800035	0	T	152800035	C	T	152800035	2	4	41	1	0	0	0	0	0	0	0	1	8710	747	26	2		2	LCE1A	1	152800035	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	128520	152800035	96450586	6	3240											
PBXIP1	57326	broad.mit.edu	37	chr1	154918319	154918319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggccagctcctgttgccGcactggggctagctctgtgc	14	13	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:154918319G>A	ENST00000368463.3	-	10	1902	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	PBXIP1_ENST00000539880.1_Missense_Mutation_p.R438W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R456W|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R582W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	611					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCTGTTGCCGCACTGGGGCT	0.627													False	0	False	1:154918319	0	A	154918319	G	A	154918319	3	1	41	1	0	0	0	0	1	0	0	0	11564	1086	38	1	372	1	PBXIP1	1	154918319	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	2118284	154918319	94332302	7	3241											
TRIM46	80128	broad.mit.edu	37	chr1	155149492	155149492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcaactctgccgggtgCggcgcacccacagcgggcac	13	15	2	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:155149492C>T	ENST00000392451.2	+	4	837	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	TRIM46_ENST00000368383.3_Missense_Mutation_p.R252W|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000334634.4_Missense_Mutation_p.R252W|TRIM46_ENST00000543729.1_Missense_Mutation_p.R259W|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.R126W|TRIM46_ENST00000368385.4_Missense_Mutation_p.R252W|TRIM46_ENST00000368382.1_Missense_Mutation_p.R229W			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	252						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGCCGGGTGCGGCGCACCCA	0.572											OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:155149492	0	T	155149492	C	T	155149492	3	4	41	1	0	0	0	0	1	0	0	0	16604	759	27	1	768	1	TRIM46	1	155149492	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	231173	155149492	94101129	8	3242											
POU2F1	5451	broad.mit.edu	37	chr1	167384904	167384904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagcttggtctctgccgccGcagcatctgcagggaactct	11	13	3	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:167384904G>A	ENST00000367862.5	+	16	2360	c.2125G>A	c.(2125-2127)Gca>Aca	p.A709T	POU2F1_ENST00000541643.3_Missense_Mutation_p.A697T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.A720T|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000429375.2_Missense_Mutation_p.A657T	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	697					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CTCTGCCGCCGCAGCATCTGC	0.602													False	0	False	1:167384904	0	A	167384904	G	A	167384904	3	1	41	1	0	0	0	0	1	0	0	0	12340	1087	38	1	2147	1	POU2F1	1	167384904	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	12235412	167384904	81865717	9	3243											
PRELP	5549	broad.mit.edu	37	chr1	203452587	203452587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctctactgtgatagccGcaacctgcgaaaggtccctg	10	14	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:203452587G>A	ENST00000343110.2	+	2	402	c.275G>A	c.(274-276)cGc>cAc	p.R92H		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	92					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTGATAGCCGCAACCTGCGA	0.587													False	0	False	1:203452587	0	A	203452587	G	A	203452587	3	1	41	1	0	0	0	0	1	0	0	0	12549	1087	38	1	277	1	PRELP	1	203452587	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	36067683	203452587	45798034	10	3244											
CR2	1380	broad.mit.edu	37	chr1	207642232	207642232	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtaactgcaaacttttTctgtgatgaagggtgagtgt	13	4	1	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:207642232T>A	ENST00000367057.3	+	4	911	c.722T>A	c.(721-723)tTc>tAc	p.F241Y	CR2_ENST00000367059.3_Missense_Mutation_p.F241Y|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.F241Y|CR2_ENST00000367058.3_Missense_Mutation_p.F241Y	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	241	Sushi 4.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GCAAACTTTTTCTGTGATGAA	0.433													False	0	True	1:207642232	0	A	207642232	T	A	207642232	3	1	41	1	0	0	0	0	1	0	0	0	3865	1783	62	5	736	5	CR2	1	207642232	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	4189645	207642232	41608389	11	3245											
OBSCN	84033	broad.mit.edu	37	chr1	228480445	228480445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactggggagtactcgtgcGtgtgcgggcaggagaggacc	18	9	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr1:228480445G>A	ENST00000570156.2	+	45	12186	c.12112G>A	c.(12112-12114)Gtg>Atg	p.V4038M	OBSCN_ENST00000366709.4_Missense_Mutation_p.V728M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V3609M|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2456M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V728M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V3609M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3079	Ig-like 41.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTACTCGTGCGTGTGCGGGCA	0.577													False	0	True	1:228480445	0	A	228480445	G	A	228480445	3	1	41	1	0	0	0	0	1	0	0	0	10880	1145	40	1	10979	1	OBSCN	1	228480445	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	20838213	228480445	20770176	12	3246											
VSNL1	7447	broad.mit.edu	37	chr2	17830679	17830679	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgtgttctcctttgcagttCtttccttatggagacgcctc	9	12	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:17830679C>A	ENST00000406397.1	+	3	690	c.165C>A	c.(163-165)ttC>ttA	p.F55L	VSNL1_ENST00000295156.4_Missense_Mutation_p.F55L|VSNL1_ENST00000404666.2_Missense_Mutation_p.F55L			P62760	VISL1_HUMAN	visinin-like 1	55	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTTGCAGTTCTTTCCTTATG	0.572													False	0	True	2:17830679	0	A	17830679	C	A	17830679	3	1	41	1	0	0	0	0	1	0	0	0	17311	912	32	3	171	3	VSNL1	2	17830679	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08		17830679	225368694	13	3247											
TEKT4	150483	broad.mit.edu	37	chr2	95542449	95542449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacagtctcttcatcgacCgccagaagtgcatggcccat	8	15	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:95542449C>T	ENST00000295201.4	+	6	1380	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	415					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTTCATCGACCGCCAGAAGTG	0.602													False	0	False	2:95542449	0	T	95542449	C	T	95542449	3	4	41	1	0	0	0	0	1	0	0	0	15837	652	23	1	1265	1	TEKT4	2	95542449	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	77711770	95542449	147656924	14	3248											
NCAPH	23397	broad.mit.edu	37	chr2	97033078	97033078	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagagcatgtggagtctgctGacagcgctctccggaaagga	14	10	2	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:97033078G>A	ENST00000455200.1	+	15	2227	c.1932G>A	c.(1930-1932)ctG>ctA	p.L644L	NCAPH_ENST00000240423.4_Silent_p.L655L|NCAPH_ENST00000427946.1_Silent_p.L519L			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	655					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGAGTCTGCTGACAGCGCTCT	0.478													False	0	False	2:97033078	0	A	97033078	G	A	97033078	2	1	41	1	0	0	0	0	0	0	0	1	10277	1277	45	2		2	NCAPH	2	97033078	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1490629	97033078	146166295	15	3249											
TMEM131	23505	broad.mit.edu	37	chr2	98377121	98377121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggagaaacctgttttGtttgaagaaactttagcaaa	9	6	0	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:98377121G>T	ENST00000186436.5	-	38	5271	c.5043C>A	c.(5041-5043)aaC>aaA	p.N1681K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1681	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AACCTGTTTTGTTTGAAGAAA	0.507													False	0	True	2:98377121	0	T	98377121	G	T	98377121	3	4	41	1	0	0	0	0	1	0	0	0	16126	1368	48	3	624	3	TMEM131	2	98377121	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1344043	98377121	144822252	16	3250											
ZC3H6	376940	broad.mit.edu	37	chr2	113089550	113089550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactagcaattctggttccGgggctctgcctccatatgcc	10	13	2	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:113089550G>A	ENST00000409871.1	+	12	3456	c.3055G>A	c.(3055-3057)Ggg>Agg	p.G1019R	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G1019R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1019							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TTCTGGTTCCGGGGCTCTGCC	0.507													False	0	True	2:113089550	0	A	113089550	G	A	113089550	3	1	41	1	0	0	0	0	1	0	0	0	17654	1116	39	1	3101	1	ZC3H6	2	113089550	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	14712429	113089550	130109823	17	3251											
TTN	7273	broad.mit.edu	37	chr2	179425623	179425623	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttaactgttaacaaagtAtgattgtctgttgagatgat	8	4	2	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:179425623A>C	ENST00000589042.1	-	326	85460	c.85236T>G	c.(85234-85236)caT>caG	p.H28412Q	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H19539Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H26771Q|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H19347Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H19472Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H25844Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26771	Fibronectin type-III 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAACAAAGTATGATTGTCTG	0.433													False	0	False	2:179425623	0	C	179425623	A	C	179425623	3	2	41	1	0	0	0	0	1	0	0	0	16819	446	16	4	22891	4	TTN	2	179425623	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	66336073	179425623	63773750	18	3252											
TTN	7273	broad.mit.edu	37	chr2	179464373	179464373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcactcctgcgagactgcGgaataactaaagtgcaagta	10	9	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:179464373G>A	ENST00000589042.1	-	289	56479	c.56255C>T	c.(56254-56256)cCg>cTg	p.P18752L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9879L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P17111L|TTN_ENST00000460472.2_Missense_Mutation_p.P9687L|TTN_ENST00000359218.5_Missense_Mutation_p.P9812L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P16184L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17111	Fibronectin type-III 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGAGACTGCGGAATAACTAA	0.428													False	0	False	2:179464373	0	A	179464373	G	A	179464373	3	1	41	1	0	0	0	0	1	0	0	0	16819	1116	39	1	51734	1	TTN	2	179464373	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	38750	179464373	63735000	19	3253											
MARS2	92935	broad.mit.edu	37	chr2	198570923	198570923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtagccacttgcactgggGcattccggtgcccggggatg	15	11	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:198570923G>A	ENST00000282276.6	+	1	837	c.794G>A	c.(793-795)gGc>gAc	p.G265D	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	265					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTGCACTGGGGCATTCCGGTG	0.552													False	0	True	2:198570923	0	A	198570923	G	A	198570923	3	1	41	1	0	0	0	0	1	0	0	0	9384	1203	42	2	796	2	MARS2	2	198570923	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	19106550	198570923	44628450	20	3254											
TNS1	7145	broad.mit.edu	37	chr2	218683151	218683151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctgggattgatggcccGccagccgaagccaggactag	14	12	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:218683151G>A	ENST00000171887.4	-	24	4044	c.3592C>T	c.(3592-3594)Cgg>Tgg	p.R1198W	TNS1_ENST00000430930.1_Missense_Mutation_p.R1177W|TNS1_ENST00000419504.1_Missense_Mutation_p.R1185W	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1198						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTGATGGCCCGCCAGCCGAAG	0.632													False	0	True	2:218683151	0	A	218683151	G	A	218683151	3	1	41	1	0	0	0	0	1	0	0	0	16425	1086	38	1	1655	1	TNS1	2	218683151	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	20112228	218683151	24516222	21	3255											
ZNF142	7701	broad.mit.edu	37	chr2	219507561	219507561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagagctgcaggggatgcgGccaatgcctgtgtgtcggga	17	9	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:219507561G>A	ENST00000411696.2	-	7	4457	c.3678C>T	c.(3676-3678)ggC>ggT	p.G1226G	ZNF142_ENST00000449707.1_Silent_p.G1226G			P52746	ZN142_HUMAN	zinc finger protein 142	1226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGGGATGCGGCCAATGCCTG	0.577													False	0	False	2:219507561	0	A	219507561	G	A	219507561	2	1	41	1	0	0	0	0	0	0	0	1	17814	1190	42	2		2	ZNF142	2	219507561	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	824410	219507561	23691812	22	3256											
UGT1A7	0	broad.mit.edu	37	chr2	234591304	234591304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccaaacccctgtcacgGcatatgatctctacagccac	5	16	3	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr2:234591304G>A	ENST00000373426.3	+	1	721	c.721G>A	c.(721-723)Gca>Aca	p.A241T	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCTGTCACGGCATATGATCT	0.413													False	0	False	2:234591304	0	A	234591304	G	A	234591304	3	1	41	1	0	0	0	0	1	0	0	0	17034	1203	42	2	723	2	UGT1A7	2	234591304	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	15083743	234591304	8608069	23	3257											
ZNF385D	79750	broad.mit.edu	37	chr3	21706481	21706481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaggaggggctggtggaCggacaagggccgggagagca	21	7	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:21706481C>T	ENST00000281523.2	-	2	580	c.62G>A	c.(61-63)cGt>cAt	p.R21H	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	21						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCTGGTGGACGGACAAGGGC	0.517													False	0	True	3:21706481	0	T	21706481	C	T	21706481	3	4	41	1	0	0	0	0	1	0	0	0	17961	536	19	1	1153	1	ZNF385D	3	21706481	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08		21706481	176315949	24	3258											
UBP1	7342	broad.mit.edu	37	chr3	33467138	33467138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactgctggtgacgttgcaGcacacatcacatactgaaag	9	10	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:33467138G>A	ENST00000283629.3	-	2	738	c.209C>T	c.(208-210)gCt>gTt	p.A70V	UBP1_ENST00000447368.2_Missense_Mutation_p.A70V|UBP1_ENST00000283628.5_Missense_Mutation_p.A70V	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	70					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGACGTTGCAGCACACATCAC	0.423													False	0	True	3:33467138	0	A	33467138	G	A	33467138	3	1	41	1	0	0	0	0	1	0	0	0	16979	971	34	2	1473	2	UBP1	3	33467138	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	11760657	33467138	164555292	25	3259											
ARHGAP31	57514	broad.mit.edu	37	chr3	119132851	119132851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgagtcgagtctggggcCctttattccctcagagcctc	10	14	3	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:119132851C>T	ENST00000264245.4	+	12	2607	c.2075C>T	c.(2074-2076)cCc>cTc	p.P692L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	692	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGTCTGGGGCCCTTTATTCCC	0.562													False	0	True	3:119132851	0	T	119132851	C	T	119132851	3	4	41	1	0	0	0	0	1	0	0	0	882	623	22	2	2121	2	ARHGAP31	3	119132851	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	85665713	119132851	78889579	26	3260											
POLQ	10721	broad.mit.edu	37	chr3	121192310	121192310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatctctctatttggggGcaacttcaattccaaaaata	5	9	4	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:121192310G>A	ENST00000264233.5	-	21	6558	c.6430C>T	c.(6430-6432)Ccc>Tcc	p.P2144S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2144					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTATTTGGGGGCAACTTCAAT	0.368								DNA polymerases (catalytic subunits)					False	0	True	3:121192310	0	A	121192310	G	A	121192310	3	1	41	1	0	0	0	0	1	0	0	0	12277	1203	42	2	1382	2	POLQ	3	121192310	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	2059459	121192310	76830120	27	3261											
PARP9	83666	broad.mit.edu	37	chr3	122274267	122274267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcagctttaaaggcagCaacagtagggtcctcattgc	11	9	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:122274267C>A	ENST00000462315.1	-	4	1044	c.751G>T	c.(751-753)Gct>Tct	p.A251S	PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.A251S|PARP9_ENST00000477522.2_Missense_Mutation_p.A251S|PARP9_ENST00000360356.2_Missense_Mutation_p.A286S	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	286	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TTAAAGGCAGCAACAGTAGGG	0.448													False	0	False	3:122274267	0	A	122274267	C	A	122274267	3	1	41	1	0	0	0	0	1	0	0	0	11534	710	25	3	1793	3	PARP9	3	122274267	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	1081957	122274267	75748163	28	3262											
ALG1L2	0	broad.mit.edu	37	chr3	129817028	129817028	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtggtgacctgggatgGggtggggacaggcaatgagg	21	6	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:129817028G>C	ENST00000507643.1	+	0	647							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										ACCTGGGATGGGGTGGGGACA	0.542													False	0	True	3:129817028	0	C	129817028	G	C	129817028	1	2	41	0	1	0	0	0	0	0	0	0	518	1247	43	5		5	ALG1L2	3	129817028	RNA	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	7542761	129817028	68205402	29	3263											
CLSTN2	64084	broad.mit.edu	37	chr3	140282022	140282022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccatcatcctgagtcccGgagtagcatccagcacagtt	9	13	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:140282022G>A	ENST00000458420.3	+	15	2649	c.2459G>A	c.(2458-2460)cGg>cAg	p.R820Q		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	820					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTGAGTCCCGGAGTAGCATC	0.512										HNSCC(16;0.037)			False	0	True	3:140282022	0	A	140282022	G	A	140282022	3	1	41	1	0	0	0	0	1	0	0	0	3585	1116	39	1	2517	1	CLSTN2	3	140282022	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	10464994	140282022	57740408	30	3264											
ABCF3	55324	broad.mit.edu	37	chr3	183911015	183911015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcctttgctcagatgactAtgccctggtgaggcctcatt	11	11	2	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr3:183911015A>G	ENST00000429586.2	+	19	2061	c.1876A>G	c.(1876-1878)Atg>Gtg	p.M626V	ABCF3_ENST00000292808.5_Missense_Mutation_p.M620V|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	626	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCAGATGACTATGCCCTGGTG	0.557													False	0	False	3:183911015	0	G	183911015	A	G	183911015	3	3	41	1	0	0	0	0	1	0	0	0	67	449	16	4	1950	4	ABCF3	3	183911015	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	43628993	183911015	14111415	31	3265											
WDFY3	23001	broad.mit.edu	37	chr4	85708746	85708746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgtgtgggtcccaggcGccaaaccaatgaggcaattt	11	9	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr4:85708746G>A	ENST00000322366.6	-	23	4197	c.3790C>T	c.(3790-3792)Cgc>Tgc	p.R1264C	WDFY3_ENST00000295888.4_Missense_Mutation_p.R1264C			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1264						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTCCCAGGCGCCAAACCAAT	0.473													False	0	False	4:85708746	0	A	85708746	G	A	85708746	3	1	41	1	0	0	0	0	1	0	0	0	17354	1087	38	1	6974	1	WDFY3	4	85708746	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		85708746	105445530	32	3266											
SDHA	6389	broad.mit.edu	37	chr5	236660	236660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaactcgctcttggacCtggttgtctttggtcgggca	14	10	2	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:236660C>T	ENST00000264932.6	+	10	1493	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L	SDHA_ENST00000504309.1_Silent_p.L460L|SDHA_ENST00000510361.1_Silent_p.L412L	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	460					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCTCTTGGACCTGGTTGTCTT	0.597									Familial Paragangliomas				False	0	False	5:236660	0	T	236660	C	T	236660	2	4	41	1	0	0	0	0	0	0	0	1	14044	680	24	2		2	SDHA	5	236660	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08		236660	180678600	33	3267											
TRIO	7204	broad.mit.edu	37	chr5	14369548	14369548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagactggtgtggcggggcGgataagctgggcccaaactc	17	9	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:14369548G>A	ENST00000344204.4	+	18	3156	c.3132G>A	c.(3130-3132)gcG>gcA	p.A1044A	TRIO_ENST00000537187.1_Silent_p.A1044A|TRIO_ENST00000509967.2_Silent_p.A995A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1044					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTGGCGGGGCGGATAAGCTGG	0.587													False	0	True	5:14369548	0	A	14369548	G	A	14369548	2	1	41	1	0	0	0	0	0	0	0	1	16635	1103	39	1		1	TRIO	5	14369548	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	14132888	14369548	166545712	34	3268											
POLK	51426	broad.mit.edu	37	chr5	74886218	74886218	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcaatacagcctatgtcaaGaactttgcagtgagcttgct	9	9	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:74886218G>C	ENST00000241436.4	+	11	1481	c.1309G>C	c.(1309-1311)Gaa>Caa	p.E437Q	POLK_ENST00000515295.1_Missense_Mutation_p.E437Q|POLK_ENST00000380481.3_Missense_Mutation_p.E347Q|POLK_ENST00000352007.5_Intron|POLK_ENST00000504026.1_Missense_Mutation_p.E437Q|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Intron	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	437					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCTATGTCAAGAACTTTGCAG	0.338								DNA polymerases (catalytic subunits)					False	0	False	5:74886218	0	C	74886218	G	C	74886218	3	2	41	1	0	0	0	0	1	0	0	0	12273	943	33	5	1347	5	POLK	5	74886218	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	60516670	74886218	106029042	35	3269											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	41	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-FB-A78T-01A-12D-A32N-08	3724226	78610444	102304816	36	3270											
PCDHA9	0	broad.mit.edu	37	chr5	140229343	140229343	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcgagagtgtgtccgcctaCgagctggtggttaccgcgcg	16	12	0	1	rs150560525	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:140229343C>A	ENST00000378122.3	+	1	1987	c.1263C>A	c.(1261-1263)taC>taA	p.Y421*	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Nonsense_Mutation_p.Y421*|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCGCCTACGAGCTGGTGG	0.642													False	0	False	5:140229343	0	A	140229343	C	A	140229343	4	1	41	1	0	0	0	0	0	1	0	0	11599	547	19	3	1265	3	PCDHA9	5	140229343	Nonsense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	61618899	140229343	40685917	37	3271											
PCDHA10	0	broad.mit.edu	37	chr5	140235770	140235770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggcaccttcgtgggccGcatcgcgcaggacctggggc	15	15	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:140235770G>A	ENST00000307360.5	+	1	137	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R46H|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.657													False	0	False	5:140235770	0	A	140235770	G	A	140235770	3	1	41	1	0	0	0	0	1	0	0	0	11588	1087	38	1	139	1	PCDHA10	5	140235770	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	6427	140235770	40679490	38	3272											
PPP2R2B	5521	broad.mit.edu	37	chr5	146080672	146080672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgctagtaattctcccGtgtggttgaattctaccgta	9	10	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:146080672G>A	ENST00000394413.3	-	2	674	c.104C>T	c.(103-105)aCg>aTg	p.T35M	PPP2R2B_ENST00000453001.1_Missense_Mutation_p.T35M|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.T24M|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.T93M|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.T35M|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.T41M|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.T101M|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.T24M|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.T38M|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.T35M			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	35					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAATTCTCCCGTGTGGTTGAA	0.423													False	0	True	5:146080672	0	A	146080672	G	A	146080672	3	1	41	1	0	0	0	0	1	0	0	0	12459	1145	40	1	1259	1	PPP2R2B	5	146080672	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	5844902	146080672	34834588	39	3273											
NOP16	51491	broad.mit.edu	37	chr5	175815524	175815524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctgcctccgggttttgCccttggccttgggcatcgcg	12	14	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr5:175815524C>T	ENST00000389158.5	-	1	452	c.17G>A	c.(16-18)gGc>gAc	p.G6D	NOP16_ENST00000510123.1_Missense_Mutation_p.G6D|NOP16_ENST00000509257.1_Missense_Mutation_p.G6D|NOP16_ENST00000507413.1_Missense_Mutation_p.G6D			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	6						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CCGGGTTTTGCCCTTGGCCTT	0.602													False	0	True	5:175815524	0	T	175815524	C	T	175815524	3	4	41	1	0	0	0	0	1	0	0	0	10605	739	26	2	538	2	NOP16	5	175815524	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	29734852	175815524	5099736	40	3274											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	41	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-FB-A78T-01A-12D-A32N-08		7393450	163721617	41	3275											
HIST1H2BM	8342	broad.mit.edu	37	chr6	27782982	27782982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtccaccccgacaccgGcatctcttccaaggctatgg	10	16	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:27782982G>A	ENST00000359465.4	+	1	161	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	54					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						CCCGACACCGGCATCTCTTCC	0.542													False	0	False	6:27782982	0	A	27782982	G	A	27782982	3	1	41	1	0	0	0	0	1	0	0	0	7199	1203	42	2	163	2	HIST1H2BM	6	27782982	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	20389532	27782982	143332085	42	3276											
MAS1L	116511	broad.mit.edu	37	chr6	29455344	29455344	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcagcagcgaccaggtggagGatgtataccatgtagggatt	14	7	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:29455344G>T	ENST00000377127.3	-	1	394	c.336C>A	c.(334-336)atC>atA	p.I112I		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	112						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCAGGTGGAGGATGTATACCA	0.527													False	0	False	6:29455344	0	T	29455344	G	T	29455344	2	4	41	1	0	0	0	0	0	0	0	1	9388	1164	41	3		3	MAS1L	6	29455344	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1672362	29455344	141659723	43	3277											
AGPAT1	10554	broad.mit.edu	37	chr6	32139088	32139088	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacttcatgttctcgacGttgcgtcctcgcacggcaca	8	16	3	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:32139088G>A	ENST00000412465.2	-	0	440				AGPAT1_ENST00000375107.3_Silent_p.N62N|AGPAT1_ENST00000395496.1_Silent_p.N62N|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395497.1_Silent_p.N62N|AGPAT1_ENST00000336984.6_Silent_p.N62N|AGPAT1_ENST00000395499.1_Silent_p.N62N|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000375104.2_Silent_p.N62N			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1						energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						TGTTCTCGACGTTGCGTCCTC	0.562													False	0	False	6:32139088	0	A	32139088	G	A	32139088	1	1	41	1	0	0	0	0	0	0	0	0	386	1136	40	1		1	AGPAT1	6	32139088	Translation_Start_Site	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	2683744	32139088	138975979	44	3278											
MDN1	23195	broad.mit.edu	37	chr6	90372687	90372687	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatttctcatcatcctcttCtgaaagggaaggcactgagc	9	10	4	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:90372687C>A	ENST00000369393.3	-	86	14352		c.e86-1		MDN1_ENST00000428876.1_Splice_Site			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATCCTCTTCTGAAAGGGAA	0.512													False	0	False	6:90372687	0	A	90372687	C	A	90372687	5	1	41	1	0	0	0	0	0	0	1	0	9482	927	32	3	2622	3	MDN1	6	90372687	Splice_Site	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	58233599	90372687	80742380	45	3279											
SASH1	23328	broad.mit.edu	37	chr6	148855953	148855953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctttaagctgctggaggagGaagacttggatgagttaaat	13	5	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr6:148855953G>A	ENST00000367467.3	+	16	2486	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	671	SAM 1.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCTGGAGGAGGAAGACTTGGA	0.478													False	0	True	6:148855953	0	A	148855953	G	A	148855953	3	1	41	1	0	0	0	0	1	0	0	0	13928	1175	41	2	2073	2	SASH1	6	148855953	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	58483266	148855953	22259114	46	3280											
PIK3CG	5294	broad.mit.edu	37	chr7	106508903	106508903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggcactgcctcaagaaCggagaagagattcacgtggt	14	8	2	4			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:106508903C>T	ENST00000359195.3	+	2	1207	c.897C>T	c.(895-897)aaC>aaT	p.N299N	PIK3CG_ENST00000496166.1_Silent_p.N299N|PIK3CG_ENST00000440650.2_Silent_p.N299N	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	299					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.N299N(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCCTCAAGAACGGAGAAGAGA	0.587													False	0	False	7:106508903	0	T	106508903	C	T	106508903	2	4	41	1	0	0	0	0	0	0	0	1	11985	535	19	1		1	PIK3CG	7	106508903	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08		106508903	52629760	47	3281											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138738203	138738203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccggcactaaccttttcCgtatttgttttcatgagttt	6	10	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr7:138738203C>T	ENST00000242351.5	-	12	2759	c.2443G>A	c.(2443-2445)Gga>Aga	p.G815R	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.G937R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	815	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TAACCTTTTCCGTATTTGTTT	0.363													False	0	False	7:138738203	0	T	138738203	C	T	138738203	3	4	41	1	0	0	0	0	1	0	0	0	17658	661	23	1	273	1	ZC3HAV1	7	138738203	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	32229300	138738203	20400460	48	3282											
AGPAT5	55326	broad.mit.edu	37	chr8	6588234	6588234	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgggtcctgtctctgcagttGactggattgttgctgacatc	12	9	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:6588234G>T	ENST00000285518.6	+	3	604	c.292G>T	c.(292-294)Gac>Tac	p.D98Y		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	98					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		CTCTGCAGTTGACTGGATTGT	0.517													False	0	False	8:6588234	0	T	6588234	G	T	6588234	3	4	41	1	0	0	0	0	1	0	0	0	390	1290	45	3	302	3	AGPAT5	8	6588234	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		6588234	139775788	49	3283											
SFTPC	6440	broad.mit.edu	37	chr8	22019355	22019355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaagatggatgtgggcaGcaaagaggtcctgatggaga	16	6	0	4			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:22019355G>A	ENST00000521315.1	+	1	46	c.14G>A	c.(13-15)aGc>aAc	p.S5N	SFTPC_ENST00000318561.3_Missense_Mutation_p.S5N|SFTPC_ENST00000524255.1_Missense_Mutation_p.S5N|SFTPC_ENST00000437090.2_Missense_Mutation_p.S5N|SFTPC_ENST00000522109.1_Missense_Mutation_p.S5N|SFTPC_ENST00000520605.1_Missense_Mutation_p.S5N			P11686	PSPC_HUMAN	surfactant protein C	5					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GATGTGGGCAGCAAAGAGGTC	0.582													False	0	False	8:22019355	0	A	22019355	G	A	22019355	3	1	41	1	0	0	0	0	1	0	0	0	14273	971	34	2	16	2	SFTPC	8	22019355	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	15431121	22019355	124344667	50	3284											
PENK	5179	broad.mit.edu	37	chr8	57353857	57353857	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcataaatcctccgtatcTtttttccatttcaggaactt	3	11	3	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:57353857T>C	ENST00000314922.3	-	2	854	c.778A>G	c.(778-780)Aga>Gga	p.R260G	PENK_ENST00000451791.2_Missense_Mutation_p.R260G	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	260					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTCCGTATCTTTTTTCCATT	0.498													False	0	True	8:57353857	0	C	57353857	T	C	57353857	3	2	41	1	0	0	0	0	1	0	0	0	11795	1617	56	4	29	4	PENK	8	57353857	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	35334502	57353857	89010165	51	3285											
KCNB2	9312	broad.mit.edu	37	chr8	73849840	73849840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcgctcactaccccgcaGcacatcagtaccatcctctt	4	17	3	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:73849840G>A	ENST00000523207.1	+	3	2838	c.2250G>A	c.(2248-2250)caG>caA	p.Q750Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	750					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTACCCCGCAGCACATCAGTA	0.572													False	0	False	8:73849840	0	A	73849840	G	A	73849840	2	1	41	1	0	0	0	0	0	0	0	1	8063	962	34	2		2	KCNB2	8	73849840	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	16495983	73849840	72514182	52	3286											
COL22A1	169044	broad.mit.edu	37	chr8	139838972	139838972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagaggttttcctgaaccGgaaggttgtgacaaaggcgt	14	8	0	3	rs138591562		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:139838972G>A	ENST00000303045.6	-	6	1344	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R300W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	300	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCCTGAACCGGAAGGTTGTG	0.517										HNSCC(7;0.00092)			False	0	False	8:139838972	0	A	139838972	G	A	139838972	3	1	41	1	0	0	0	0	1	0	0	0	3704	1115	39	1	4222	1	COL22A1	8	139838972	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	65989132	139838972	6525050	53	3287											
CYP11B2	1585	broad.mit.edu	37	chr8	143994080	143994080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgctggggattataccGctcaggcctcgggaacaagg	14	12	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr8:143994080G>A	ENST00000323110.2	-	8	1266	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	422					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGATTATACCGCTCAGGCCTC	0.622									Familial Hyperaldosteronism type I				False	0	False	8:143994080	0	A	143994080	G	A	143994080	3	1	41	1	0	0	0	0	1	0	0	0	4171	1086	38	1	255	1	CYP11B2	8	143994080	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	4155108	143994080	2369942	54	3288											
KIAA1432	57589	broad.mit.edu	37	chr9	5720313	5720313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccttttcagtagacctgcAgtcatctagaggtagctata	8	10	3	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:5720313A>G	ENST00000414202.2	+	5	763	c.572A>G	c.(571-573)cAg>cGg	p.Q191R	KIAA1432_ENST00000418622.3_Missense_Mutation_p.Q112R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.Q191R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.Q112R|KIAA1432_ENST00000449720.2_Missense_Mutation_p.Q112R	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	191						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GTAGACCTGCAGTCATCTAGA	0.388													False	0	False	9:5720313	0	G	5720313	A	G	5720313	3	3	41	1	0	0	0	0	1	0	0	0	8283	188	7	4	349	4	KIAA1432	9	5720313	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08		5720313	135493118	55	3289											
CDKN2A	1029	broad.mit.edu	37	chr9	21971143	21971152	+	Frame_Shift_Del	DEL	CAGTTGGGCT	CAGTTGGGCT	-													tgagagtggcggggtcggcgCagttgggctccgcgccgtgg							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	CAGTTGGGCT	CAGTTGGGCT	-	-	CAGTTGGGCT	CAGTTGGGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:21971143_21971152delCAGTTGGGCT	ENST00000479692.2	-	2	67_76	c.53_62delAGCCCAACTG	c.(52-63)gagcccaactgcfs	p.EPNC18fs	CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.GAQL83fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.GAQL124fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.GAQL83fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.EPNC69fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.EPNC18fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.EPNC69fs|RP11-145E5.5_ENST00000404796.2_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	69					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E69V(3)|p.N71K(3)|p.P70L(2)|p.C72fs*74(2)|p.N71D(2)|p.E61fs*49(2)|p.N71fs*50(1)|p.P70A(1)|p.V59fs*45(1)|p.P70S(1)|p.N71N(1)|p.N71I(1)|p.E61fs*50(1)|p.C72S(1)|p.C72Y(1)|p.C72fs*71(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.C72G(1)|p.A68fs*3(1)|p.0(1)|p.L127fs*>47(1)|p.L63fs*75(1)|p.E69fs*51(1)|p.Q126R(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.N71fs*1(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGGGTCGGCGCAGTTGGGCTCCGCGCCGTG	0.719		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	1	True	9:21971143	0	-	21971152	CAGTTGGGCT	-	21971143	7	5	41	1	0	1	0	1	0	0	0	0	3184	710	25	0	263	0	CDKN2A	9	21971143	Frame_Shift_Del	DEL	CAGTTGGGCT	TCGA-FB-A78T-01A-12D-A32N-08	16250830	21971143	119242288	56	3290											
TMEM8B	51754	broad.mit.edu	37	chr9	35853151	35853151	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctctaggtgctgtatttgcTgggagctatgctgctgtcca	12	9	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:35853151T>A	ENST00000377988.2	+	12	2268	c.980T>A	c.(979-981)cTg>cAg	p.L327Q	TMEM8B_ENST00000377991.4_Missense_Mutation_p.L327Q	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	327					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CTGTATTTGCTGGGAGCTATG	0.582													False	0	True	9:35853151	0	A	35853151	T	A	35853151	3	1	41	1	0	0	0	0	1	0	0	0	16297	1580	55	5	1204	5	TMEM8B	9	35853151	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	13882008	35853151	105360280	57	3291											
TMEFF1	8577	broad.mit.edu	37	chr9	103261139	103261140	+	In_Frame_Ins	INS	-	-	ATATATTTGGCTTTTTATTAC													agatggagatggtttgaaatINSgtgcatgccaatttcaggtg							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:103261139_103261140insATATATTTGGCTTTTTATTAC	ENST00000374879.4	+	2	721_722	c.289_290insATATATTTGGCTTTTTATTAC	c.(289-291)tgt>tATATATTTGGCTTTTTATTACgt	p.97_97C>YIFGFLLR	TMEFF1_ENST00000334943.6_In_Frame_Ins_p.58_58C>YIFGFLLR|MSANTD3-TMEFF1_ENST00000502978.1_In_Frame_Ins_p.60_60M>IYIWLFIT	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TGGTTTGAAATGTGCATGCCAA	0.327													False	0	False	9:103261139	0	ATATATTTGGCTTTTTATTAC	103261140	-	ATATATTTGGCTTTTTATTAC	103261139	7	5	41	1	0	1	1	0	0	0	0	0	16095	1464	51	0	295	0	TMEFF1	9	103261139	In_Frame_Ins	INS	-	TCGA-FB-A78T-01A-12D-A32N-08	67407988	103261139	37952292	58	3292											
ZNF483	158399	broad.mit.edu	37	chr9	114304261	114304261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaccttgttctgaaccGcaaggagaaaaccgccggag	11	11	2	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:114304261G>A	ENST00000309235.5	+	6	1204	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	349					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R349H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTTCTGAACCGCAAGGAGAAA	0.423													False	0	False	9:114304261	0	A	114304261	G	A	114304261	3	1	41	1	0	0	0	0	1	0	0	0	18019	1087	38	1	1064	1	ZNF483	9	114304261	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	11043122	114304261	26909170	59	3293											
FAM129B	64855	broad.mit.edu	37	chr9	130271305	130271305	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacacggacgtgctggacaCatcaaatcgctgctgcagcc	11	13	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:130271305C>A	ENST00000373312.3	-	10	1480	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L	FAM129B_ENST00000373314.3_Missense_Mutation_p.V410L|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	423							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTGCTGGACACATCAAATCGC	0.622													False	0	False	9:130271305	0	A	130271305	C	A	130271305	3	1	41	1	0	0	0	0	1	0	0	0	5473	478	17	3	993	3	FAM129B	9	130271305	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	15967044	130271305	10942126	60	3294											
EDF1	8721	broad.mit.edu	37	chr9	139756786	139756786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttccaatgtcctttccccGgagcttgaggcctgaaatga	9	12	0	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:139756786G>A	ENST00000224073.1	-	5	424	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	EDF1_ENST00000371649.1_3'UTR	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	133	HTH cro/C1-type.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCCTTTCCCCGGAGCTTGAGG	0.597													False	0	True	9:139756786	0	A	139756786	G	A	139756786	3	1	41	1	0	0	0	0	1	0	0	0	4944	1115	39	1	53	1	EDF1	9	139756786	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	9485481	139756786	1456645	61	3295											
ENTPD2	954	broad.mit.edu	37	chr9	139944405	139944405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagccccatcgaagtccGcaaaaagtccacagtgtaga	11	12	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr9:139944405G>A	ENST00000355097.2	-	7	1113	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	ENTPD2_ENST00000312665.5_Missense_Mutation_p.R356W	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	356						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATCGAAGTCCGCAAAAAGTCC	0.647											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:139944405	0	A	139944405	G	A	139944405	3	1	41	1	0	0	0	0	1	0	0	0	5171	1086	38	1	433	1	ENTPD2	9	139944405	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	187619	139944405	1269026	62	3296											
MRC1L1	0	broad.mit.edu	37	chr10	17949700	17949700	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcctacaaaggatatatttGtaaaagaccaaaaagtaagt	6	5	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:17949700G>C	ENST00000331429.2	+	28	4167	c.4064G>C	c.(4063-4065)tGt>tCt	p.C1355S																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGATATATTTGTAAAAGACCA	0.373													False	0	True	10:17949700	0	C	17949700	G	C	17949700	3	2	41	1	0	0	0	0	1	0	0	0	9824	1377	48	5	4174	5	MRC1L1	10	17949700	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		17949700	117585047	63	3297											
AGAP11	119385	broad.mit.edu	37	chr10	88767456	88767456	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acttgatgaacagttatactCatttgcggtaagtggcactt	9	7	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:88767456C>A	ENST00000444431.1	+	0	2704				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CAGTTATACTCATTTGCGGTA	0.318													False	0	False	10:88767456	0	A	88767456	C	A	88767456	1	1	41	0	1	0	0	0	0	0	0	0	367	838	29	3		3	AGAP11	10	88767456	RNA	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	70817756	88767456	46767291	64	3298											
ATRNL1	26033	broad.mit.edu	37	chr10	117061456	117061456	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcaatggcatggagtgtatGtggtgcagcagtacgaaacg	15	6	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr10:117061456G>C	ENST00000355044.3	+	17	2847	c.2721G>C	c.(2719-2721)atG>atC	p.M907I	ATRNL1_ENST00000423111.2_Missense_Mutation_p.M4I	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	907	PSI 4.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGGAGTGTATGTGGTGCAGCA	0.453													False	0	False	10:117061456	0	C	117061456	G	C	117061456	3	2	41	1	0	0	0	0	1	0	0	0	1211	1377	48	5	2787	5	ATRNL1	10	117061456	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	28294000	117061456	18473291	65	3299											
PSMA1	5682	broad.mit.edu	37	chr11	14536026	14536026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaatccaaacactcctgaCgcataaaattactaaaaaag	5	9	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:14536026C>T	ENST00000530457.1	-	5	721	c.191G>A	c.(190-192)cGt>cAt	p.R64H	PSMA1_ENST00000419365.2_Missense_Mutation_p.R89H|PSMA1_ENST00000396394.2_Missense_Mutation_p.R89H|PSMA1_ENST00000418988.2_Missense_Mutation_p.R95H|PSMA1_ENST00000555531.1_Missense_Mutation_p.R89H|PSMA1_ENST00000396393.1_Missense_Mutation_p.R89H			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ACACTCCTGACGCATAAAATT	0.308													False	0	False	11:14536026	0	T	14536026	C	T	14536026	3	4	41	1	0	0	0	0	1	0	0	0	12742	536	19	1	599	1	PSMA1	11	14536026	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08		14536026	120470490	66	3300											
KCNJ11	3767	broad.mit.edu	37	chr11	17408690	17408690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcctcagctacaatggGcacaaagcgctggccccaca	9	16	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:17408690G>A	ENST00000339994.4	-	1	1516	c.949C>T	c.(949-951)Ccc>Tcc	p.P317S	KCNJ11_ENST00000528731.1_Missense_Mutation_p.P230S	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	230						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GCTACAATGGGCACAAAGCGC	0.607											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:17408690	0	A	17408690	G	A	17408690	3	1	41	1	0	0	0	0	1	0	0	0	8095	1203	42	2	227	2	KCNJ11	11	17408690	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	2872664	17408690	117597826	67	3301											
NR1H3	10062	broad.mit.edu	37	chr11	47281348	47281348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttggagctcagactctgCggtggagctgtggaagccag	15	9	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:47281348C>T	ENST00000467728.1	+	2	1288	c.50C>T	c.(49-51)gCg>gTg	p.A17V	NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.A17V|NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.A17V|NR1H3_ENST00000407404.1_Missense_Mutation_p.A17V|NR1H3_ENST00000405576.1_5'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	17					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TCAGACTCTGCGGTGGAGCTG	0.632											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:47281348	0	T	47281348	C	T	47281348	3	4	41	1	0	0	0	0	1	0	0	0	10686	768	27	1	56	1	NR1H3	11	47281348	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	29872658	47281348	87725168	68	3302											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076139	57076139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctccacattctggggcGccaagtcctgggtccagtcc	12	14	1	1	rs143761660		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:57076139G>A	ENST00000532437.1	-	5	4357	c.4046C>T	c.(4045-4047)gCg>gTg	p.A1349V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1349V			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1349	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATTCTGGGGCGCCAAGTCCTG	0.647													False	0	False	11:57076139	0	A	57076139	G	A	57076139	3	1	41	1	0	0	0	0	1	0	0	0	16402	1087	38	1	1167	1	TNKS1BP1	11	57076139	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	9794791	57076139	77930377	69	3303											
ZDHHC5	25921	broad.mit.edu	37	chr11	57456082	57456082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatggtgtgccacctgccGcttttaccgtccccctcgat	9	15	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:57456082G>A	ENST00000287169.3	+	4	1691	c.329G>A	c.(328-330)cGc>cAc	p.R110H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R57H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	110						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCACCTGCCGCTTTTACCGT	0.522													False	0	False	11:57456082	0	A	57456082	G	A	57456082	3	1	41	1	0	0	0	0	1	0	0	0	17701	1087	38	1	339	1	ZDHHC5	11	57456082	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	379943	57456082	77550434	70	3304											
PATL1	219988	broad.mit.edu	37	chr11	59421522	59421523	+	Frame_Shift_Ins	INS	-	-	ATTCCTTTATGGCTTCTTAATTCAGCTTTTAATTTTAACA													atggaggtgagttgtgtccgINSgtctaaacattggggcctga							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:59421522_59421523insATTCCTTTATGGCTTCTTAATTCAGCTTTTAATTTTAACA	ENST00000300146.9	-	9	1138_1139	c.1054_1055insTGTTAAAATTAAAAGCTGAATTAAGAAGCCATAAAGGAAT	c.(1054-1056)ccgfs	p.P352fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	352	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AGTTGTGTCCGGTCTAAACATT	0.431													False	0	False	11:59421522	0	ATTCCTTTATGGCTTCTTAATTCAGCTTTTAATTTTAACA	59421523	-	ATTCCTTTATGGCTTCTTAATTCAGCTTTTAATTTTAACA	59421522	7	5	41	1	0	1	1	0	0	0	0	0	11543	1116	39	0	1301	0	PATL1	11	59421522	Frame_Shift_Ins	INS	-	TCGA-FB-A78T-01A-12D-A32N-08	1965440	59421522	75584994	71	3305											
MS4A1	931	broad.mit.edu	37	chr11	60235931	60235931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccaatagaaaatgacaGctctccttaagtgatttctt	5	10	3	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:60235931G>T	ENST00000534668.1	+	7	1173	c.884G>T	c.(883-885)aGc>aTc	p.S295I	MS4A1_ENST00000389939.2_Missense_Mutation_p.S295I|MS4A1_ENST00000345732.4_Missense_Mutation_p.S295I|MS4A1_ENST00000532073.1_Missense_Mutation_p.S282I|MS4A1_ENST00000528313.1_Missense_Mutation_p.S128I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	295					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GAAAATGACAGCTCTCCTTAA	0.373													False	0	False	11:60235931	0	T	60235931	G	T	60235931	3	4	41	1	0	0	0	0	1	0	0	0	9921	971	34	3	906	3	MS4A1	11	60235931	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	814409	60235931	74770585	72	3306											
MEN1	0	broad.mit.edu	37	chr11	64577300	64577300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcgcctcggatctgggcGgtgaagcgggcatagagggc	19	10	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:64577300G>A	ENST00000337652.1	-	2	785	c.282C>T	c.(280-282)acC>acT	p.T94T	MEN1_ENST00000394376.1_Silent_p.T94T|MEN1_ENST00000394374.2_Silent_p.T94T|MEN1_ENST00000377321.1_Silent_p.T94T|MEN1_ENST00000312049.6_Silent_p.T94T|MEN1_ENST00000377316.2_Silent_p.T94T|MEN1_ENST00000377313.1_Silent_p.T94T|MEN1_ENST00000377326.3_Silent_p.T94T|MEN1_ENST00000315422.4_Silent_p.T94T|MEN1_ENST00000443283.1_Silent_p.T94T	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	94			Missing (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.A95fs*24(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGATCTGGGCGGTGAAGCGGG	0.647			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				False	0	False	11:64577300	0	A	64577300	G	A	64577300	2	1	41	1	0	0	0	0	0	0	0	1	9539	1103	39	1		1	MEN1	11	64577300	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	4341369	64577300	70429216	73	3307											
NPAS4	266743	broad.mit.edu	37	chr11	66188745	66188745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgccgctggccgaagCggacaaggtccggctgtcct	15	14	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:66188745C>T	ENST00000311034.2	+	1	271	c.95C>T	c.(94-96)gCg>gTg	p.A32V		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	32	Helix-loop-helix motif.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGCCGAAGCGGACAAGGTC	0.647													False	0	False	11:66188745	0	T	66188745	C	T	66188745	3	4	41	1	0	0	0	0	1	0	0	0	10633	768	27	1	97	1	NPAS4	11	66188745	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	1611445	66188745	68817771	74	3308											
ARAP1	116985	broad.mit.edu	37	chr11	72406856	72406856	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaagagcgtgggcccaaaCacaattgccaggttgtgcac	13	10	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:72406856C>G	ENST00000359373.5	-	24	4178	c.3327G>C	c.(3325-3327)gtG>gtC	p.V1109V	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Silent_p.V864V|ARAP1_ENST00000429686.1_Silent_p.V803V|ARAP1_ENST00000334211.8_Silent_p.V864V|ARAP1_ENST00000455638.2_Silent_p.V1109V|ARAP1_ENST00000393609.3_Silent_p.V1109V|ARAP1_ENST00000393605.3_Silent_p.V869V			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1109	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGGCCCAAACACAATTGCCA	0.552													False	0	True	11:72406856	0	G	72406856	C	G	72406856	2	3	41	1	0	0	0	0	0	0	0	1	840	465	17	5		5	ARAP1	11	72406856	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	6218111	72406856	62599660	75	3309											
CASP1	834	broad.mit.edu	37	chr11	104904955	104904955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgagagtcccagcgtcCctgccaggtaactgtcttct	10	14	2	1	rs2509649		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:104904955C>T	ENST00000533400.1	-	2	289	c.254G>A	c.(253-255)gGg>gAg	p.G85E	CASP1_ENST00000531166.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000528974.1_Missense_Mutation_p.G46E|CASP1_ENST00000598974.1_Missense_Mutation_p.G85E|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E|CASP1_ENST00000593315.1_Missense_Mutation_p.G85E|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000594519.1_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	85	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.G85E(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCCCAGCGTCCCTGCCAGGTA	0.468													False	0	True	11:104904955	0	T	104904955	C	T	104904955	3	4	41	1	0	0	0	0	1	0	0	0	2688	623	22	2	992	2	CASP1	11	104904955	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	32498099	104904955	30101561	76	3310											
TEX12	56158	broad.mit.edu	37	chr11	112040055	112040055	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggccaagagaattggagGtaagctgtatgcctatggag	15	5	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:112040055G>A	ENST00000280358.4	+	2	195		c.e2+1		TEX12_ENST00000530752.1_Splice_Site|RP11-356J5.4_ENST00000527589.1_RNA|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000525468.1_Splice_Site	NM_031275.4	NP_112565.1	Q9BXU0	TEX12_HUMAN	testis expressed 12											endometrium(1)|large_intestine(2)|lung(1)	4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AGAATTGGAGGTAAGCTGTAT	0.373													False	0	False	11:112040055	0	A	112040055	G	A	112040055	5	1	41	1	0	0	0	0	0	0	1	0	15857	1275	44	2	66	2	TEX12	11	112040055	Splice_Site	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	7135100	112040055	22966461	77	3311											
CBL	867	broad.mit.edu	37	chr11	119145571	119145571	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttgctcaggaattggaaCagccttgctgtaactcatcc	8	11	3	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr11:119145571C>A	ENST00000264033.4	+	5	1153	c.777C>A	c.(775-777)aaC>aaA	p.N259K		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	259	Cbl-PTB.|SH2-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGAATTGGAACAGCCTTGCTG	0.448			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				False	0	False	11:119145571	0	A	119145571	C	A	119145571	3	1	41	1	0	0	0	0	1	0	0	0	2720	477	17	3	795	3	CBL	11	119145571	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	7105516	119145571	15860945	78	3312											
NANOG	79923	broad.mit.edu	37	chr12	7945647	7945647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgcagagaagagtgtcGcaaaaaaggaagacaaggtc	12	7	1	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:7945647G>A	ENST00000229307.4	+	2	472	c.253G>A	c.(253-255)Gca>Aca	p.A85T	NANOG_ENST00000526286.1_Missense_Mutation_p.A85T	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	85					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		GAAGAGTGTCGCAAAAAAGGA	0.478													False	0	False	12:7945647	0	A	7945647	G	A	7945647	3	1	41	1	0	0	0	0	1	0	0	0	10217	1087	38	1	259	1	NANOG	12	7945647	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		7945647	125906248	79	3313											
RBMS2	5939	broad.mit.edu	37	chr12	56956368	56956368	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtcaagctgtgtcagccGtaagttggagtacatgtgcg	13	8	2	0	rs140037879		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:56956368G>A	ENST00000262031.5	+	2	328		c.e2+1		RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000549945.1_Splice_Site|RBMS2_ENST00000550726.1_Intron|RBMS2_ENST00000552247.2_Splice_Site	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2						RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						TGTGTCAGCCGTAAGTTGGAG	0.488													False	0	False	12:56956368	0	A	56956368	G	A	56956368	5	1	41	1	0	0	0	0	0	0	1	0	13228	1159	40	1	240	1	RBMS2	12	56956368	Splice_Site	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	49010721	56956368	76895527	80	3314											
GLI1	2735	broad.mit.edu	37	chr12	57859598	57859598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggggatgctggatgggCgggaggacctcgagagagag	21	5	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:57859598C>T	ENST00000228682.2	+	7	743	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	GLI1_ENST00000546141.1_Missense_Mutation_p.R177W|GLI1_ENST00000543426.1_Missense_Mutation_p.R90W	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	218					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GCTGGATGGGCGGGAGGACCT	0.552													False	0	True	12:57859598	0	T	57859598	C	T	57859598	3	4	41	1	0	0	0	0	1	0	0	0	6482	759	27	1	674	1	GLI1	12	57859598	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	903230	57859598	75992297	81	3315											
TRHDE	29953	broad.mit.edu	37	chr12	72955964	72955964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggattatttaaccattcataAgtatggtaatgcagccagaa	8	6	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:72955964A>C	ENST00000261180.4	+	8	1769	c.1673A>C	c.(1672-1674)aAg>aCg	p.K558T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	558					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCATTCATAAGTATGGTAAT	0.269													False	0	False	12:72955964	0	C	72955964	A	C	72955964	3	2	41	1	0	0	0	0	1	0	0	0	16562	72	3	4	1703	4	TRHDE	12	72955964	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	15096366	72955964	60895931	82	3316											
CCDC41	51134	broad.mit.edu	37	chr12	94761622	94761622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgccatctgtgaagcccGcaatttctcttcatactgat	6	12	4	2	rs111647062		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:94761622G>A	ENST00000397809.5	-	11	1840	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W|CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	423										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGTGAAGCCCGCAATTTCTCT	0.373													False	0	True	12:94761622	0	A	94761622	G	A	94761622	3	1	41	1	0	0	0	0	1	0	0	0	2834	1086	38	1	842	1	CCDC41	12	94761622	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	21805658	94761622	39090273	83	3317											
FAM71C	196472	broad.mit.edu	37	chr12	100042352	100042352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaataaccatccacaacagcGtaaaaaaacagctccacctg	4	13	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:100042352G>A	ENST00000324341.1	+	1	822	c.400G>A	c.(400-402)Gta>Ata	p.V134I	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	134										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CCACAACAGCGTAAAAAAACA	0.483													False	0	False	12:100042352	0	A	100042352	G	A	100042352	3	1	41	1	0	0	0	0	1	0	0	0	5649	1145	40	1	402	1	FAM71C	12	100042352	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	5280730	100042352	33809543	84	3318											
BRAP	8315	broad.mit.edu	37	chr12	112103575	112103575	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcagtcaggtccatcActgggaggctggcgccctac	14	12	3	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:112103575A>T	ENST00000419234.4	-	6	957	c.764T>A	c.(763-765)gTg>gAg	p.V255E	BRAP_ENST00000539060.1_Missense_Mutation_p.V76E|BRAP_ENST00000327551.6_Missense_Mutation_p.V225E	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	255					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CAGGTCCATCACTGGGAGGCT	0.502													False	0	False	12:112103575	0	T	112103575	A	T	112103575	3	4	41	1	0	0	0	0	1	0	0	0	1504	159	6	5	1042	5	BRAP	12	112103575	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	12061223	112103575	21748320	85	3319											
P2RX7	5027	broad.mit.edu	37	chr12	121592733	121592733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacagtgtctttgacaccGcagactacaccttccctttg	7	14	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr12:121592733G>A	ENST00000546057.1	+	2	414	c.271G>A	c.(271-273)Gca>Aca	p.A91T	P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.A91T|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_5'UTR	NM_002562.5	NP_002553	A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	91						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTTGACACCGCAGACTACAC	0.557													False	0	False	12:121592733	0	A	121592733	G	A	121592733	3	1	41	1	0	0	0	0	1	0	0	0	11413	1087	38	1	277	1	P2RX7	12	121592733	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	9489158	121592733	12259162	86	3320											
ZMYM5	9205	broad.mit.edu	37	chr13	20399225	20399226	+	Frame_Shift_Ins	INS	-	-	ATACATTTCAAGAGCAACTGGAAGAGAAAAATTT													tctactgaaagctgtagctgINStgaagtcttttccttttttt							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:20399225_20399226insATACATTTCAAGAGCAACTGGAAGAGAAAAATTT	ENST00000337963.4	-	8	1665_1666	c.1401_1402insAAATTTTTCTCTTCCAGTTGCTCTTGAAATGTAT	c.(1399-1404)tcacagfs	p.Q468fs		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	468						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		agctgtagctgtgaagtctttt	0.361													False	0	False	13:20399225	0	ATACATTTCAAGAGCAACTGGAAGAGAAAAATTT	20399226	-	ATACATTTCAAGAGCAACTGGAAGAGAAAAATTT	20399225	7	5	41	1	0	1	1	0	0	0	0	0	17786	1386	48	0	611	0	ZMYM5	13	20399225	Frame_Shift_Ins	INS	-	TCGA-FB-A78T-01A-12D-A32N-08		20399225	94770653	87	3321											
SPATA13	221178	broad.mit.edu	37	chr13	24860488	24860488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggactggtggtggggccGcagtgaagataaggaagcct	17	7	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:24860488G>A	ENST00000424834.2	+	8	2911	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	SPATA13_ENST00000382095.4_Missense_Mutation_p.R188H|SPATA13_ENST00000382108.3_Missense_Mutation_p.R813H|SPATA13_ENST00000343003.6_Missense_Mutation_p.R132H|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.R691H|SPATA13_ENST00000409126.1_Missense_Mutation_p.R110H|SPATA13_ENST00000399949.2_Missense_Mutation_p.R110H			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	188					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGTGGGGCCGCAGTGAAGAT	0.572													False	0	False	13:24860488	0	A	24860488	G	A	24860488	3	1	41	1	0	0	0	0	1	0	0	0	15082	1087	38	1	2456	1	SPATA13	13	24860488	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	4461263	24860488	90309390	88	3322											
LNX2	0	broad.mit.edu	37	chr13	28136823	28136823	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctcggttgccaaagcgcctCtctcgaagcacagtaagatg	11	12	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:28136823C>G	ENST00000316334.3	-	5	1080	c.951G>C	c.(949-951)gaG>gaC	p.E317D		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	317	PDZ 1.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CAAAGCGCCTCTCTCGAAGCA	0.488													False	0	True	13:28136823	0	G	28136823	C	G	28136823	3	3	41	1	0	0	0	0	1	0	0	0	8919	912	32	5	1145	5	LNX2	13	28136823	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	3276335	28136823	87033055	89	3323											
ZIC2	7546	broad.mit.edu	37	chr13	100635062	100635062	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctttttccgctatatgcgGcagcagtgcatcaagcagga	11	11	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr13:100635062G>C	ENST00000376335.3	+	1	1037	c.744G>C	c.(742-744)cgG>cgC	p.R248R		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	248	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTATATGCGGCAGCAGTGCA	0.562													False	0	False	13:100635062	0	C	100635062	G	C	100635062	2	2	41	1	0	0	0	0	0	0	0	1	17762	1190	42	5		5	ZIC2	13	100635062	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	72498239	100635062	14534816	90	3324											
MBIP	51562	broad.mit.edu	37	chr14	36783734	36783735	+	Frame_Shift_Ins	INS	-	-	T													taccttgattacaatcaataINSacattgcaaaattccctgac							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:36783734_36783735insT	ENST00000416007.4	-	4	641_642	c.554_555insA	c.(553-555)gttfs	p.V185fs	MBIP_ENST00000359527.7_Frame_Shift_Ins_p.V185fs|MBIP_ENST00000318473.7_Frame_Shift_Ins_p.V185fs	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	185	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TACAATCAATAACATTGCAAAA	0.277													False	0	False	14:36783734	0	T	36783735	-	T	36783734	7	5	41	1	0	1	1	0	0	0	0	0	9416	349	13	0	503	0	MBIP	14	36783734	Frame_Shift_Ins	INS	-	TCGA-FB-A78T-01A-12D-A32N-08		36783734	70565806	91	3325											
FANCM	57697	broad.mit.edu	37	chr14	45623197	45623197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggttatgaattattgcaGcaaatgggaatgagatcatt	10	4	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:45623197G>A	ENST00000267430.5	+	6	1210	c.1125G>A	c.(1123-1125)caG>caA	p.Q375Q	FANCM_ENST00000542564.2_Silent_p.Q349Q|FANCM_ENST00000556036.1_Silent_p.Q375Q	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	375					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTATTGCAGCAAATGGGAA	0.284								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	14:45623197	0	A	45623197	G	A	45623197	2	1	41	1	0	0	0	0	0	0	0	1	5711	962	34	2		2	FANCM	14	45623197	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	8839463	45623197	61726343	92	3326											
TMEM30B	161291	broad.mit.edu	37	chr14	61746986	61746986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtggccgccgaacgcgcGcaccgggtagttgtaggtga	16	11	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:61746986G>A	ENST00000555868.1	-	1	1572	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	TMEM30B_ENST00000355702.2_Missense_Mutation_p.R294C|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	294						integral to membrane		p.V293fs*>57(1)		breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		CCGAACGCGCGCACCGGGTAG	0.657													False	0	True	14:61746986	0	A	61746986	G	A	61746986	3	1	41	1	0	0	0	0	1	0	0	0	16236	1087	38	1	179	1	TMEM30B	14	61746986	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	16123789	61746986	45602554	93	3327											
CDC42BPB	9578	broad.mit.edu	37	chr14	103450025	103450025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgtatttgcccatgccGtcctccatcgcctgcaggat	10	16	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr14:103450025G>A	ENST00000361246.2	-	7	1047	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	253	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGCCCATGCCGTCCTCCATCG	0.582													False	0	False	14:103450025	0	A	103450025	G	A	103450025	2	1	41	1	0	0	0	0	0	0	0	1	3096	1136	40	1		1	CDC42BPB	14	103450025	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	41703039	103450025	3899515	94	3328											
APBA2	321	broad.mit.edu	37	chr15	29397624	29397624	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcggccaggccttcagcgtgGcctaccaggagttcctgcga	13	14	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:29397624G>T	ENST00000558402.1	+	12	2166	c.1567G>T	c.(1567-1569)Gcc>Tcc	p.A523S	APBA2_ENST00000411764.1_Missense_Mutation_p.A511S|APBA2_ENST00000558330.1_Missense_Mutation_p.A511S|APBA2_ENST00000561069.1_Missense_Mutation_p.A523S|APBA2_ENST00000558259.1_Missense_Mutation_p.A523S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	523	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTTCAGCGTGGCCTACCAGGA	0.612													False	0	False	15:29397624	0	T	29397624	G	T	29397624	3	4	41	1	0	0	0	0	1	0	0	0	759	1203	42	3	1597	3	APBA2	15	29397624	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		29397624	73133768	95	3329											
TYRO3	7301	broad.mit.edu	37	chr15	41857341	41857342	+	Splice_Site	INS	-	-	G													cagtcctgtacagttcaggtINSaggctctccgggccgggcca							TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579													False	0	False	15:41857341	0	G	41857342	-	G	41857341	8	5	41	1	0	1	1	0	0	0	1	0	16898	1652	57	0	807	0	TYRO3	15	41857341	Splice_Site	INS	-	TCGA-FB-A78T-01A-12D-A32N-08	12459717	41857341	60674051	96	3330											
LMAN1L	79748	broad.mit.edu	37	chr15	75109005	75109005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgtgtgctggccagcgaCgggcacatcccctctgagca	12	15	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:75109005C>T	ENST00000309664.5	+	4	610	c.471C>T	c.(469-471)gaC>gaT	p.D157D	LMAN1L_ENST00000379709.3_Silent_p.D157D	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	157	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCCAGCGACGGGCACATCC	0.677													False	0	True	15:75109005	0	T	75109005	C	T	75109005	2	4	41	1	0	0	0	0	0	0	0	1	8890	535	19	1		1	LMAN1L	15	75109005	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	33251664	75109005	27422387	97	3331											
ADAMTS7	11173	broad.mit.edu	37	chr15	79051843	79051843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcggcagcactgggtgcGgatggtgggcagctggcagc	20	10	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr15:79051843G>A	ENST00000388820.4	-	24	5191	c.4981C>T	c.(4981-4983)Cgc>Tgc	p.R1661C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1661	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CACTGGGTGCGGATGGTGGGC	0.726													False	0	False	15:79051843	0	A	79051843	G	A	79051843	3	1	41	1	0	0	0	0	1	0	0	0	271	1116	39	1	83	1	ADAMTS7	15	79051843	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	3942838	79051843	23479549	98	3332											
KIAA0556	23247	broad.mit.edu	37	chr16	27751992	27751992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggcaggctcccatcagacGatgtcatcggtgagggtcct	14	11	2	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:27751992G>A	ENST00000261588.4	+	15	2393	c.2374G>A	c.(2374-2376)Gat>Aat	p.D792N		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	792										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCCATCAGACGATGTCATCGG	0.632													False	0	False	16:27751992	0	A	27751992	G	A	27751992	3	1	41	1	0	0	0	0	1	0	0	0	8233	1058	37	1	2432	1	KIAA0556	16	27751992	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		27751992	62602761	99	3333											
SETD1A	9739	broad.mit.edu	37	chr16	30976932	30976932	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgcaggcttctccatGctcttctggagacgacatgg	11	15	3	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:30976932G>C	ENST00000262519.8	+	8	2416	c.1730G>C	c.(1729-1731)tGc>tCc	p.C577S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	577	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCTTCTCCATGCTCTTCTGGA	0.657													False	0	False	16:30976932	0	C	30976932	G	C	30976932	3	2	41	1	0	0	0	0	1	0	0	0	14211	1319	46	5	1756	5	SETD1A	16	30976932	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	3224940	30976932	59377821	100	3334											
SLC5A2	6524	broad.mit.edu	37	chr16	31500513	31500513	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgattcccgagttctccttcGgctcgggcagctgtgtgcag	13	12	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:31500513G>C	ENST00000330498.3	+	12	1538	c.1519G>C	c.(1519-1521)Ggc>Cgc	p.G507R		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	507					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GTTCTCCTTCGGCTCGGGCAG	0.637													False	0	False	16:31500513	0	C	31500513	G	C	31500513	3	2	41	1	0	0	0	0	1	0	0	0	14745	1116	39	5	1565	5	SLC5A2	16	31500513	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	523581	31500513	58854240	101	3335											
ZFHX3	463	broad.mit.edu	37	chr16	72828136	72828136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaactgaggacatggagggGctttcaaagtcttcaatccc	10	9	3	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:72828136G>T	ENST00000268489.5	-	9	9117	c.8445C>A	c.(8443-8445)agC>agA	p.S2815R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1901R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2815					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACATGGAGGGGCTTTCAAAGT	0.463													False	0	True	16:72828136	0	T	72828136	G	T	72828136	3	4	41	1	0	0	0	0	1	0	0	0	17717	1194	42	3	2674	3	ZFHX3	16	72828136	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	41327623	72828136	17526617	102	3336											
ZFHX3	463	broad.mit.edu	37	chr16	72992317	72992317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccacattggccctgacGccctcactgttaaagcttaa	7	14	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr16:72992317G>A	ENST00000268489.5	-	2	2400	c.1728C>T	c.(1726-1728)ggC>ggT	p.G576G	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	576					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGCCCTGACGCCCTCACTGT	0.502													False	0	True	16:72992317	0	A	72992317	G	A	72992317	2	1	41	1	0	0	0	0	0	0	0	1	17717	1074	38	1		1	ZFHX3	16	72992317	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	164181	72992317	17362436	103	3337											
SRR	63826	broad.mit.edu	37	chr17	2224891	2224891	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggaggaggaatgcttgctgGaatagcaattacagttaagg	14	4	0	0	rs141694122		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:2224891G>C	ENST00000344595.5	+	6	893	c.575G>C	c.(574-576)gGa>gCa	p.G192A	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	192					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATGCTTGCTGGAATAGCAATT	0.403													False	0	False	17:2224891	0	C	2224891	G	C	2224891	3	2	41	1	0	0	0	0	1	0	0	0	15248	1174	41	5	593	5	SRR	17	2224891	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		2224891	78970319	104	3338											
NUP88	4927	broad.mit.edu	37	chr17	5322895	5322895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagtccctcccggagccGcaagaacacgacgtggttag	11	13	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:5322895G>A	ENST00000573584.1	-	1	585	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	26					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TCCCGGAGCCGCAAGAACACG	0.632													False	0	False	17:5322895	0	A	5322895	G	A	5322895	3	1	41	1	0	0	0	0	1	0	0	0	10839	1086	38	1	2217	1	NUP88	17	5322895	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	3098004	5322895	75872315	105	3339											
BCL6B	255877	broad.mit.edu	37	chr17	6927434	6927434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaattttccggggccgtgCgggagtcggggtggacgtgc	18	9	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:6927434C>T	ENST00000293805.5	+	3	304	c.212C>T	c.(211-213)gCg>gTg	p.A71V	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	71	BTB.					nucleus	zinc ion binding			skin(1)	1						CGGGGCCGTGCGGGAGTCGGG	0.597													False	0	True	17:6927434	0	T	6927434	C	T	6927434	3	4	41	1	0	0	0	0	1	0	0	0	1381	768	27	1	218	1	BCL6B	17	6927434	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	1604539	6927434	74267776	106	3340											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:7577538C>A	ENST00000420246.2	-	7	875	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_ENST00000269305.4_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_Missense_Mutation_p.R248L|TP53_ENST00000413465.2_Missense_Mutation_p.R248L|TP53_ENST00000359597.4_Missense_Mutation_p.R248L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			False	0	False	17:7577538	0	A	7577538	C	A	7577538	3	1	41	1	0	0	0	0	1	0	0	0	16464	652	23	3	547	3	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	650104	7577538	73617672	107	3341											
MYH4	4622	broad.mit.edu	37	chr17	10363351	10363351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagctgctggttgatgCgggtgaccatccacaggaac	13	11	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:10363351C>T	ENST00000255381.2	-	14	1444	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	445	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGTTGATGCGGGTGACCAT	0.478													False	0	True	17:10363351	0	T	10363351	C	T	10363351	3	4	41	1	0	0	0	0	1	0	0	0	10104	768	27	1	4593	1	MYH4	17	10363351	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	2785813	10363351	70831859	108	3342											
UNC45B	146862	broad.mit.edu	37	chr17	33501285	33501285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggactttatagacatgCgggtgaagcggcttctgaag	14	6	1	4			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:33501285C>T	ENST00000268876.5	+	14	1958	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	UNC45B_ENST00000591048.1_Missense_Mutation_p.R540W|UNC45B_ENST00000394570.2_Missense_Mutation_p.R619W|UNC45B_ENST00000378449.1_Missense_Mutation_p.R540W|UNC45B_ENST00000433649.1_Missense_Mutation_p.R619W	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	621					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TATAGACATGCGGGTGAAGCG	0.547													False	0	True	17:33501285	0	T	33501285	C	T	33501285	3	4	41	1	0	0	0	0	1	0	0	0	17073	759	27	1	1911	1	UNC45B	17	33501285	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	23137934	33501285	47693925	109	3343											
HSPB9	94086	broad.mit.edu	37	chr17	40275109	40275109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaatggctgatggtgaccGgacagcagcaactggacgtc	14	11	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:40275109G>A	ENST00000355067.3	+	1	354	c.241G>A	c.(241-243)Gga>Aga	p.G81R	CTD-2132N18.3_ENST00000592574.1_Intron	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	81					response to stress	cytoplasm|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GATGGTGACCGGACAGCAGCA	0.597													False	0	False	17:40275109	0	A	40275109	G	A	40275109	3	1	41	1	0	0	0	0	1	0	0	0	7474	1117	39	1	243	1	HSPB9	17	40275109	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	6773824	40275109	40920101	110	3344											
TRIM37	4591	broad.mit.edu	37	chr17	57093004	57093004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctccttttctcaaccGcaggcaagccactgaaaact	5	14	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:57093004G>A	ENST00000376149.3	-	21	2986	c.2177C>T	c.(2176-2178)gCg>gTg	p.A726V	TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V|TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V|TRIM37_ENST00000262294.7_Missense_Mutation_p.A848V			O94972	TRI37_HUMAN	tripartite motif containing 37	848						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	p.A848V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTCTCAACCGCAGGCAAGCC	0.398									Mulibrey Nanism				False	0	False	17:57093004	0	A	57093004	G	A	57093004	3	1	41	1	0	0	0	0	1	0	0	0	16594	1087	38	1	375	1	TRIM37	17	57093004	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	16817895	57093004	24102206	111	3345											
FOXJ1	2302	broad.mit.edu	37	chr17	74136135	74136135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacgtgcggattggtggcGtagtccacgtcgtcgggggg	18	9	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:74136135G>A	ENST00000322957.6	-	2	696	c.342C>T	c.(340-342)taC>taT	p.Y114Y		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	114					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GATTGGTGGCGTAGTCCACGT	0.692													False	0	False	17:74136135	0	A	74136135	G	A	74136135	2	1	41	1	0	0	0	0	0	0	0	1	6053	1140	40	1		1	FOXJ1	17	74136135	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	17043131	74136135	7059075	112	3346											
TNRC6C	57690	broad.mit.edu	37	chr17	76046827	76046827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgcttggagtggggccGcaaatcaggaggacaagtca	15	9	2	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr17:76046827G>A	ENST00000335749.4	+	3	2253	c.1684G>A	c.(1684-1686)Gca>Aca	p.A562T	TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	562	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGTGGGGCCGCAAATCAGGA	0.582													False	0	False	17:76046827	0	A	76046827	G	A	76046827	3	1	41	1	0	0	0	0	1	0	0	0	16424	1087	38	1	1686	1	TNRC6C	17	76046827	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1910692	76046827	5148383	113	3347											
POTEC	388468	broad.mit.edu	37	chr18	14542996	14542996	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatcttcataaaggagtcGtcgtggtctccagaagtgcc	11	10	3	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr18:14542996G>A	ENST00000358970.5	-	1	149	c.150C>T	c.(148-150)gaC>gaT	p.D50D	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	50										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TAAAGGAGTCGTCGTGGTCTC	0.587													False	0	False	18:14542996	0	A	14542996	G	A	14542996	2	1	41	1	0	0	0	0	0	0	0	1	12331	1136	40	1		1	POTEC	18	14542996	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		14542996	63534252	114	3348											
SMAD4	4089	broad.mit.edu	37	chr18	48604736	48604736	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acccaagacagagcatcaaaGaaacaccttgctggattgaa	8	10	1	4			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr18:48604736G>T	ENST00000342988.3	+	12	2096	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	520	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.E520*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAGCATCAAAGAAACACCTTG	0.488													False	0	True	18:48604736	0	T	48604736	G	T	48604736	4	4	41	1	0	0	0	0	0	1	0	0	14840	943	33	3	1600	3	SMAD4	18	48604736	Nonsense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	34061740	48604736	29472512	115	3349											
PLIN4	729359	broad.mit.edu	37	chr19	4511842	4511842	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctggacagtccctttggcGacattcactgcccccatgag	10	14	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:4511842G>A	ENST00000301286.3	-	3	2087	c.2088C>T	c.(2086-2088)gtC>gtT	p.V696V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	696	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCCTTTGGCGACATTCACTG	0.602													False	0	False	19:4511842	0	A	4511842	G	A	4511842	2	1	41	1	0	0	0	0	0	0	0	1	12161	1045	37	1		1	PLIN4	19	4511842	Silent	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		4511842	54617141	116	3350											
ABHD8	79575	broad.mit.edu	37	chr19	17412239	17412239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctgcatccgaggatgCggatgatggtggaggtgggg	21	6	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:17412239C>T	ENST00000247706.3	-	2	426	c.187G>A	c.(187-189)Gca>Aca	p.A63T	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	63							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCCGAGGATGCGGATGATGGT	0.667													False	0	False	19:17412239	0	T	17412239	C	T	17412239	3	4	41	1	0	0	0	0	1	0	0	0	87	768	27	1	1148	1	ABHD8	19	17412239	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	12900397	17412239	41716744	117	3351											
ZNF626	199777	broad.mit.edu	37	chr19	20807353	20807353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagtatgaattctccTatgtgtagtaaggattgagg	10	7	2	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:20807353T>C	ENST00000601440.1	-	4	1476	c.1330A>G	c.(1330-1332)Agg>Ggg	p.R444G	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGAATTCTCCTATGTGTAGTA	0.373													False	0	False	19:20807353	0	C	20807353	T	C	20807353	3	2	41	1	0	0	0	0	1	0	0	0	18133	1521	53	4	260	4	ZNF626	19	20807353	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	3395114	20807353	38321630	118	3352											
KIAA0355	9710	broad.mit.edu	37	chr19	34832943	34832943	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgccccctccaccacggGcaccccaggctggggcacac	11	20	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:34832943G>T	ENST00000299505.6	+	10	2977	c.2104G>T	c.(2104-2106)Gca>Tca	p.A702S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	702										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCCACCACGGGCACCCCAGGC	0.612													False	0	True	19:34832943	0	T	34832943	G	T	34832943	3	4	41	1	0	0	0	0	1	0	0	0	8220	1203	42	3	2138	3	KIAA0355	19	34832943	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	14025590	34832943	24296040	119	3353											
ZNF585A	199704	broad.mit.edu	37	chr19	37643141	37643141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgaaggctttcccacattCgtggcattcatactgtctct	8	11	2	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:37643141C>T	ENST00000356958.4	-	5	1918	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E499K|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E499K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E499K(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCACATTCGTGGCATTCA	0.403													False	0	False	19:37643141	0	T	37643141	C	T	37643141	3	4	41	1	0	0	0	0	1	0	0	0	18100	893	31	1	653	1	ZNF585A	19	37643141	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	2810198	37643141	21485842	120	3354											
SARS2	54938	broad.mit.edu	37	chr19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgctgtagccctcgcgcGcatactcgtacaggaggttc	13	13	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:39421234	0	A	39421234	G	A	39421234	3	1	41	1	0	0	0	0	1	0	0	0	13925	1087	38	1	1558	1	SARS2	19	39421234	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	1778093	39421234	19707749	121	3355											
GYS1	2997	broad.mit.edu	37	chr19	49485993	49485993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacccataaaaatggccccGcacaaactcctggattcgag	8	13	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:49485993G>A	ENST00000323798.3	-	6	1121	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	GYS1_ENST00000540532.1_Intron|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.R245W|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	309					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AAATGGCCCCGCACAAACTCC	0.542													False	0	True	19:49485993	0	A	49485993	G	A	49485993	3	1	41	1	0	0	0	0	1	0	0	0	6959	1086	38	1	1332	1	GYS1	19	49485993	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	10064759	49485993	9642990	122	3356											
MYBPC2	4606	broad.mit.edu	37	chr19	50963351	50963351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgtggggcacgaacgCgctggtggagtggcaggccc	21	9	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:50963351C>T	ENST00000357701.5	+	24	2897	c.2846C>T	c.(2845-2847)gCg>gTg	p.A949V		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	949	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGCACGAACGCGCTGGTGGAG	0.537													False	0	False	19:50963351	0	T	50963351	C	T	50963351	3	4	41	1	0	0	0	0	1	0	0	0	10079	768	27	1	2940	1	MYBPC2	19	50963351	Missense_Mutation	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	1477358	50963351	8165632	123	3357											
KLK13	26085	broad.mit.edu	37	chr19	51561829	51561829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccctcttttgtgccgGcacacaacatgttgtcagtg	9	13	2	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:51561829G>A	ENST00000595793.1	-	4	653	c.611C>T	c.(610-612)gCc>gTc	p.A204V	KLK13_ENST00000335422.3_Missense_Mutation_p.A52V|KLK13_ENST00000595547.1_Missense_Mutation_p.A131V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	204	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTTTGTGCCGGCACACAACAT	0.512													False	0	True	19:51561829	0	A	51561829	G	A	51561829	3	1	41	1	0	0	0	0	1	0	0	0	8451	1203	42	2	230	2	KLK13	19	51561829	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	598478	51561829	7567154	124	3358											
HAS1	3036	broad.mit.edu	37	chr19	52220299	52220299	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgaaggctacccagtatcGcaggctgcttaggaagctga	12	9	0	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr19:52220299G>A	ENST00000540069.2	-	3	907	c.847C>T	c.(847-849)Cga>Tga	p.R283*	HAS1_ENST00000594621.1_Nonsense_Mutation_p.R138*|HAS1_ENST00000222115.1_Nonsense_Mutation_p.R284*|HAS1_ENST00000601714.1_Nonsense_Mutation_p.R291*			Q92839	HAS1_HUMAN	hyaluronan synthase 1	284					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACCCAGTATCGCAGGCTGCTT	0.602													False	0	False	19:52220299	0	A	52220299	G	A	52220299	4	1	41	1	0	0	0	0	0	1	0	0	7008	1095	38	1	898	1	HAS1	19	52220299	Nonsense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	658470	52220299	6908684	125	3359											
NCOA6	23054	broad.mit.edu	37	chr20	33345146	33345146	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccggagagctgacaggctGctgaaatccctggggaagtg	15	10	0	3			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:33345146G>A	ENST00000374796.2	-	8	3975	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q469*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	469	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGACAGGCTGCTGAAATCCC	0.557													False	0	False	20:33345146	0	A	33345146	G	A	33345146	4	1	41	1	0	0	0	0	0	1	0	0	10301	1328	46	2	4822	2	NCOA6	20	33345146	Nonsense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		33345146	29680374	126	3360											
PTPRT	11122	broad.mit.edu	37	chr20	40980846	40980846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagaggtggtgggtttcaTtccggagcttgaacactttc	12	8	1	2			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:40980846T>C	ENST00000373198.4	-	10	1875	c.1640A>G	c.(1639-1641)aAt>aGt	p.N547S	PTPRT_ENST00000373184.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373193.3_Missense_Mutation_p.N547S|PTPRT_ENST00000356100.2_Missense_Mutation_p.N547S|PTPRT_ENST00000373187.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373190.1_Missense_Mutation_p.N547S|PTPRT_ENST00000373201.1_Missense_Mutation_p.N547S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGGGTTTCATTCCGGAGCTT	0.567													False	0	False	20:40980846	0	C	40980846	T	C	40980846	3	2	41	1	0	0	0	0	1	0	0	0	12891	1493	52	4	2834	4	PTPRT	20	40980846	Missense_Mutation	SNP	T	TCGA-FB-A78T-01A-12D-A32N-08	7635700	40980846	22044674	127	3361											
TOX2	84969	broad.mit.edu	37	chr20	42695426	42695426	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctgctcacctggcccAtccaaccccaccagcagcgg	9	19	1	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chr20:42695426A>T	ENST00000358131.5	+	7	1567	c.1359A>T	c.(1357-1359)ccA>ccT	p.P453P	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Silent_p.P471P|TOX2_ENST00000372999.1_Silent_p.P429P|TOX2_ENST00000423191.2_Silent_p.P429P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	453	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CACCTGGCCCATCCAACCCCA	0.627													False	0	True	20:42695426	0	T	42695426	A	T	42695426	2	4	41	1	0	0	0	0	0	0	0	1	16461	204	8	5		5	TOX2	20	42695426	Silent	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	1714580	42695426	20330094	128	3362											
PHKA2	5256	broad.mit.edu	37	chrX	18929061	18929061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacttagaactttagtcgGcaaagtcatgggaacaactg	11	8	1	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:18929061G>A	ENST00000379942.4	-	20	2820	c.2155C>T	c.(2155-2157)Ccg>Tcg	p.P719S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	719					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ACTTTAGTCGGCAAAGTCATG	0.363													False	0	False	X:18929061	0	A	18929061	G	A	18929061	3	1	41	1	0	0	0	0	1	0	0	0	11913	1203	42	2	1608	2	PHKA2	23	18929061	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08		18929061	136341499	129	3363											
MAGEB6	158809	broad.mit.edu	37	chrX	26213152	26213152	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgtatgaagacgctttgataGatgaggtagagagagcattg	14	3	0	7			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:26213152G>C	ENST00000379034.1	+	2	1338	c.1189G>C	c.(1189-1191)Gat>Cat	p.D397H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	397										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGCTTTGATAGATGAGGTAGA	0.502													False	0	False	X:26213152	0	C	26213152	G	C	26213152	3	2	41	1	0	0	0	0	1	0	0	0	9246	942	33	5	1191	5	MAGEB6	23	26213152	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	7284091	26213152	129057408	130	3364											
DLG3	1741	broad.mit.edu	37	chrX	69672545	69672545	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcctccgcttcggcctggaGgagggcttcgcagaggtggg	18	12	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:69672545G>T	ENST00000374355.3	+	1	391	c.74G>T	c.(73-75)aGg>aTg	p.R25M	DLG3_ENST00000194900.4_Intron|DLG3_ENST00000374360.3_Intron	NM_020730.2	NP_065781.1	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	0					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TCGGCCTGGAGGAGGGCTTCG	0.697													False	0	False	X:69672545	0	T	69672545	G	T	69672545	3	4	41	1	0	0	0	0	1	0	0	0	4586	1000	35	3	1249	3	DLG3	23	69672545	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	43459393	69672545	85598015	131	3365											
STAG2	10735	broad.mit.edu	37	chrX	123181288	123181288	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaagacaatatgaagcagAacggaataaaatgattggaa	9	4	0	4			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:123181288A>C	ENST00000371160.1	+	9	1042	c.752A>C	c.(751-753)gAa>gCa	p.E251A	STAG2_ENST00000371144.3_Missense_Mutation_p.E251A|STAG2_ENST00000218089.9_Missense_Mutation_p.E251A|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.E251A|STAG2_ENST00000371145.3_Missense_Mutation_p.E251A|STAG2_ENST00000354548.5_Missense_Mutation_p.E182A	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	251					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TATGAAGCAGAACGGAATAAA	0.338													False	0	False	X:123181288	0	C	123181288	A	C	123181288	3	2	41	1	0	0	0	0	1	0	0	0	15325	246	9	4	778	4	STAG2	23	123181288	Missense_Mutation	SNP	A	TCGA-FB-A78T-01A-12D-A32N-08	53508743	123181288	32089272	132	3366											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685938	125685938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggtccatccgccacagCgccacagtgccgtcgcggga	13	17	0	0			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:125685938C>T	ENST00000371126.1	-	1	896	c.654G>A	c.(652-654)gcG>gcA	p.A218A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	218										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCGCCACAGCGCCACAGTGC	0.652													False	0	True	X:125685938	0	T	125685938	C	T	125685938	2	4	41	1	0	0	0	0	0	0	0	1	4289	755	27	1		1	DCAF12L1	23	125685938	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	2504650	125685938	29584622	133	3367											
ARHGAP36	158763	broad.mit.edu	37	chrX	130222630	130222630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagccagctgtgccttcCggcactgcccgttcccatga	12	15	0	1			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:130222630C>T	ENST00000276211.5	+	12	1860	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	ARHGAP36_ENST00000370921.1_Silent_p.S369S|ARHGAP36_ENST00000370922.1_Silent_p.S493S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	505					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGTGCCTTCCGGCACTGCCC	0.542													False	0	False	X:130222630	0	T	130222630	C	T	130222630	2	4	41	1	0	0	0	0	0	0	0	1	885	639	23	1		1	ARHGAP36	23	130222630	Silent	SNP	C	TCGA-FB-A78T-01A-12D-A32N-08	4536692	130222630	25047930	134	3368											
GPR112	139378	broad.mit.edu	37	chrX	135487991	135487991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaatccagaagactcggcGgaagatgatcctgcatgacc	10	12	0	5			TCGA-FB-A78T-01A-12D-A32N-08	TCGA-FB-A78T-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7b11642c-98d8-4ff5-bcd6-ced9bdc1e088	d08ddfec-c4ce-47c9-b4c0-3195db8bd2ce	g.chrX:135487991G>A	ENST00000394143.1	+	23	9086	c.8795G>A	c.(8794-8796)cGg>cAg	p.R2932Q	GPR112_ENST00000370652.1_Missense_Mutation_p.R2932Q|GPR112_ENST00000287534.4_Missense_Mutation_p.R2685Q|GPR112_ENST00000394141.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000412101.1_Missense_Mutation_p.R2727Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2932					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2932Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAGACTCGGCGGAAGATGATC	0.458													False	0	False	X:135487991	0	A	135487991	G	A	135487991	3	1	41	1	0	0	0	0	1	0	0	0	6675	1116	39	1	8873	1	GPR112	23	135487991	Missense_Mutation	SNP	G	TCGA-FB-A78T-01A-12D-A32N-08	5265361	135487991	19782569	135	3369											
UBE4B	10277	broad.mit.edu	37	chr1	10197233	10197233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttgccgtcgctatatccGcagactccgggctatccggg	12	13	0	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:10197233G>A	ENST00000377157.3	+	16	2659	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	UBE4B_ENST00000343090.6_Missense_Mutation_p.R778H|UBE4B_ENST00000253251.8_Missense_Mutation_p.R649H	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	778					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CGCTATATCCGCAGACTCCGG	0.527													False	0	False	1:10197233	0	A	10197233	G	A	10197233	3	1	42	1	0	0	0	0	1	0	0	0	16967	1087	38	1	2399	1	UBE4B	1	10197233	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		10197233	239053388	1	3370											
BAI2	576	broad.mit.edu	37	chr1	32196581	32196581	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggcccgagtggtccacGgacaggaagctggggtagcc	16	13	0	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:32196581G>A	ENST00000373658.3	-	29	4541	c.4200C>T	c.(4198-4200)tcC>tcT	p.S1400S	BAI2_ENST00000527361.1_Silent_p.S1367S|BAI2_ENST00000440175.2_Silent_p.S1009S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Silent_p.S1367S|BAI2_ENST00000398547.1_Silent_p.S1333S|BAI2_ENST00000398542.1_Silent_p.S1300S|BAI2_ENST00000398556.3_Silent_p.S1315S|BAI2_ENST00000398538.1_Silent_p.S1388S|BAI2_ENST00000373655.2_Silent_p.S1400S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1400					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGTGGTCCACGGACAGGAAGC	0.692													False	0	False	1:32196581	0	A	32196581	G	A	32196581	2	1	42	1	0	0	0	0	0	0	0	1	1303	1103	39	1		1	BAI2	1	32196581	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	21999348	32196581	217054040	2	3371											
RSPO1	284654	broad.mit.edu	37	chr1	38079563	38079563	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcgctcatttcacattgCgctggcaggaagagaaggga	12	10	2	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:38079563C>T	ENST00000356545.2	-	7	1225	c.438G>A	c.(436-438)gcG>gcA	p.A146A	RSPO1_ENST00000401068.1_Splice_Site_p.A146A|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401069.1_Splice_Site_p.A146A|RSPO1_ENST00000373059.1_Splice_Site_p.A119A|RSPO1_ENST00000401070.1_Intron	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	146					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCACATTGCGCTGGCAGGA	0.617													False	0	False	1:38079563	0	T	38079563	C	T	38079563	5	4	42	1	0	0	0	0	0	0	1	0	13788	782	27	1	361	1	RSPO1	1	38079563	Splice_Site	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	5882982	38079563	211171058	3	3372											
RNF220	55182	broad.mit.edu	37	chr1	44878230	44878230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagtctccccacttgcGcttctcagatgcagatggca	9	14	2	3			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:44878230G>A	ENST00000355387.2	+	2	911	c.461G>A	c.(460-462)cGc>cAc	p.R154H	RNF220_ENST00000361799.2_Missense_Mutation_p.R154H|RNF220_ENST00000372247.2_Missense_Mutation_p.R154H			Q5VTB9	RN220_HUMAN	ring finger protein 220	154					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCCCACTTGCGCTTCTCAGAT	0.537													False	0	False	1:44878230	0	A	44878230	G	A	44878230	3	1	42	1	0	0	0	0	1	0	0	0	13562	1087	38	1	463	1	RNF220	1	44878230	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	6798667	44878230	204372391	4	3373											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	42	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-FB-AAPS-01A-12D-A397-08	107793285	152671515	96579106	5	3374											
SPTA1	6708	broad.mit.edu	37	chr1	158592846	158592846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccagcaactgttcccagCgcttcagcagagcggcataa	9	14	1	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:158592846C>T	ENST00000368147.4	-	43	6227	c.6047G>A	c.(6046-6048)cGc>cAc	p.R2016H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R2016H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGTTCCCAGCGCTTCAGCAG	0.478													False	0	False	1:158592846	0	T	158592846	C	T	158592846	3	4	42	1	0	0	0	0	1	0	0	0	15198	768	27	1	1252	1	SPTA1	1	158592846	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	5921331	158592846	90657775	6	3375											
APOB	338	broad.mit.edu	37	chr2	21234547	21234547	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcttaagtccttcttgactGaccttgaagttgaaaatgtt	8	7	1	4			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:21234547G>T	ENST00000233242.1	-	26	5320	c.5193C>A	c.(5191-5193)gtC>gtA	p.V1731V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1731					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTCTTGACTGACCTTGAAGT	0.453													False	0	True	2:21234547	0	T	21234547	G	T	21234547	2	4	42	1	0	0	0	0	0	0	0	1	787	1277	45	3		3	APOB	2	21234547	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		21234547	221964826	7	3376											
LHCGR	3973	broad.mit.edu	37	chr2	48915275	48915275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagccattaattctgggtttCgaactgcaaaataaatttta	6	6	1	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:48915275C>T	ENST00000294954.7	-	11	1682	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	LHCGR_ENST00000344775.3_Missense_Mutation_p.R492Q|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Silent_p.S317S|LHCGR_ENST00000405626.1_Missense_Mutation_p.R527Q|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	554					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTCTGGGTTTCGAACTGCAAA	0.368													False	0	True	2:48915275	0	T	48915275	C	T	48915275	3	4	42	1	0	0	0	0	1	0	0	0	8814	884	31	1	442	1	LHCGR	2	48915275	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	27680728	48915275	194284098	8	3377											
MAP4K4	9448	broad.mit.edu	37	chr2	102486181	102486181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagtgaggagtcggggaCgacggatgaggaggacgacg	19	7	0	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:102486181C>T	ENST00000413150.2	+	19	2118	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	MAP4K4_ENST00000350198.4_Missense_Mutation_p.T692M|MAP4K4_ENST00000302217.5_Missense_Mutation_p.T576M|MAP4K4_ENST00000350878.4_Missense_Mutation_p.T749M|MAP4K4_ENST00000456652.1_Missense_Mutation_p.T572M|MAP4K4_ENST00000425019.1_Missense_Mutation_p.T742M|MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000347699.4_Missense_Mutation_p.T773M|MAP4K4_ENST00000324219.4_Missense_Mutation_p.T854M	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	773					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAGTCGGGGACGACGGATGAG	0.582													False	0	False	2:102486181	0	T	102486181	C	T	102486181	3	4	42	1	0	0	0	0	1	0	0	0	9329	536	19	1	2647	1	MAP4K4	2	102486181	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	53570906	102486181	140713192	9	3378											
TTN	7273	broad.mit.edu	37	chr2	179444687	179444687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagctttgacagcatcacGagtttcaccgggatcaccaa	10	11	3	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:179444687G>A	ENST00000589042.1	-	318	67551	c.67327C>T	c.(67327-67329)Cgt>Tgt	p.R22443C	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19875C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13503C|TTN_ENST00000460472.2_Missense_Mutation_p.R13378C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13570C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R20802C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20802	Ig-like 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGCATCACGAGTTTCACCG	0.413													False	0	False	2:179444687	0	A	179444687	G	A	179444687	3	1	42	1	0	0	0	0	1	0	0	0	16819	1058	37	1	40832	1	TTN	2	179444687	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	76958506	179444687	63754686	10	3379											
SPHKAP	80309	broad.mit.edu	37	chr2	228882781	228882781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgtctgctaattcttccGcaaagtctgtaatgcagtag	9	10	3	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:228882781G>A	ENST00000392056.3	-	7	2835	c.2789C>T	c.(2788-2790)gCg>gTg	p.A930V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	930	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding	p.A930V(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAATTCTTCCGCAAAGTCTGT	0.473													False	0	False	2:228882781	0	A	228882781	G	A	228882781	3	1	42	1	0	0	0	0	1	0	0	0	15130	1087	38	1	2337	1	SPHKAP	2	228882781	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	49438094	228882781	14316592	11	3380											
MLPH	79083	broad.mit.edu	37	chr2	238449105	238449107	+	In_Frame_Del	DEL	GAA	GAA	-													agacctcgtccgaggaggagGaagccaaggacgaaaaggca					rs2271809	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:238449105_238449107delGAA	ENST00000410032.1	+	8	1183_1185	c.790_792delGAA	c.(790-792)gaadel	p.E264del	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_In_Frame_Del_p.E339del|MLPH_ENST00000445024.2_In_Frame_Del_p.E407del|MLPH_ENST00000338530.4_In_Frame_Del_p.E379del|MLPH_ENST00000264605.3_In_Frame_Del_p.E407del			Q9BV36	MELPH_HUMAN	melanophilin	259							metal ion binding	p.E407E(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CGAGGAGGAGGAAGCCAAGGACG	0.621													False	1	True	2:238449105	0	-	238449107	GAA	-	238449105	7	5	42	1	0	1	0	1	0	0	0	0	9700	1175	41	0	1253	0	MLPH	2	238449105	In_Frame_Del	DEL	GAA	TCGA-FB-AAPS-01A-12D-A397-08	9566324	238449105	4750268	12	3381											
SETD2	29072	broad.mit.edu	37	chr3	47098594	47098594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggagctgccacatgtGgcaccactggtactggtgga	13	12	0	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr3:47098594G>A	ENST00000409792.3	-	15	6722	c.6680C>T	c.(6679-6681)cCa>cTa	p.P2227L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2227	Low charge region.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGCCACATGTGGCACCACTGG	0.552			"N, F, S, Mis"		clear cell renal carcinoma								False	0	False	3:47098594	0	A	47098594	G	A	47098594	3	1	42	1	0	0	0	0	1	0	0	0	14212	1348	47	2	1042	2	SETD2	3	47098594	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		47098594	150923836	13	3382											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	42	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-FB-AAPS-01A-12D-A397-08		40434705	150719571	14	3383											
SCD5	79966	broad.mit.edu	37	chr4	83719510	83719510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagcaccagggagtacaCggcccccaagtggagcaagc	14	12	0	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:83719510C>T	ENST00000319540.4	-	1	500	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	SCD5_ENST00000273908.4_Missense_Mutation_p.V61M|SCD5_ENST00000282709.4_Missense_Mutation_p.V61M	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	61					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				AGGGAGTACACGGCCCCCAAG	0.711													False	0	False	4:83719510	0	T	83719510	C	T	83719510	3	4	42	1	0	0	0	0	1	0	0	0	13967	536	19	1	1037	1	SCD5	4	83719510	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	43284805	83719510	107434766	15	3384											
SYNPO2	171024	broad.mit.edu	37	chr4	119978661	119978661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttactctagtaaaccaaccGatggactagagaaagcaaac	8	9	1	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:119978661G>A	ENST00000307142.4	+	5	3554	c.3358G>A	c.(3358-3360)Gat>Aat	p.D1120N	SYNPO2_ENST00000448416.2_Silent_p.P121P	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	774						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TAAACCAACCGATGGACTAGA	0.488													False	0	True	4:119978661	0	A	119978661	G	A	119978661	3	1	42	1	0	0	0	0	1	0	0	0	15539	1058	37	1	3488	1	SYNPO2	4	119978661	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	36259151	119978661	71175615	16	3385											
FTMT	94033	broad.mit.edu	37	chr5	121187809	121187809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccccgccgccccctggccGcagccgcctcctcccgggac	10	26	0	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:121187809G>A	ENST00000321339.1	+	1	160	c.151G>A	c.(151-153)Gca>Aca	p.A51T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	51					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCCCCTGGCCGCAGCCGCCTC	0.771													False	0	False	5:121187809	0	A	121187809	G	A	121187809	3	1	42	1	0	0	0	0	1	0	0	0	6127	1087	38	1	153	1	FTMT	5	121187809	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		121187809	59727451	17	3386											
CHSY3	337876	broad.mit.edu	37	chr5	129520070	129520070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcataattacatgctcagccGcaaaatttctgaacttcgct	6	11	2	1	rs140992502		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:129520070G>A	ENST00000305031.4	+	3	1593	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	412						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATGCTCAGCCGCAAAATTTCT	0.478													False	0	False	5:129520070	0	A	129520070	G	A	129520070	3	1	42	1	0	0	0	0	1	0	0	0	3436	1087	38	1	1245	1	CHSY3	5	129520070	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	8332261	129520070	51395190	18	3387											
RAD50	10111	broad.mit.edu	37	chr5	131953986	131953987	+	Splice_Site	DEL	AG	AG	-													ttattataagactcttgaccAgtaagtattagactggggat							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:131953986_131953987delAG	ENST00000265335.6	+	21	3776	c.3389delAG	c.(3388-3390)cag>cg	p.Q1130fs	RAD50_ENST00000378823.3_Splice_Site_p.Q991fs			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1130					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTCTTGACCAGTAAGTATTAG	0.292								Homologous recombination					False	1	True	5:131953986	0	-	131953987	AG	-	131953986	8	5	42	1	0	1	0	1	0	0	1	0	13063	202	7	0	3471	0	RAD50	5	131953986	Splice_Site	DEL	AG	TCGA-FB-AAPS-01A-12D-A397-08	2433916	131953986	48961274	19	3388											
FAT2	2196	broad.mit.edu	37	chr5	150932824	150932824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtccgtctccatgaccGtaaagctgtagtaggtctca	11	11	2	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:150932824G>A	ENST00000261800.5	-	5	4082	c.4070C>T	c.(4069-4071)aCg>aTg	p.T1357M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1357	Cadherin 12.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCATGACCGTAAAGCTGTA	0.587													False	0	False	5:150932824	0	A	150932824	G	A	150932824	3	1	42	1	0	0	0	0	1	0	0	0	5730	1145	40	1	9055	1	FAT2	5	150932824	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	18978838	150932824	29982436	20	3389											
SNCB	6620	broad.mit.edu	37	chr5	176053513	176053513	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgttccttggttttttcAgccactggagcagggagggg	15	9	1	0	rs111621148		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:176053513A>G	ENST00000310112.3	-	5	418	c.168T>C	c.(166-168)gcT>gcC	p.A56A	SNCB_ENST00000393693.2_Silent_p.A56A|SNCB_ENST00000506696.1_Silent_p.A56A|SNCB_ENST00000510387.1_Silent_p.A56A	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	56	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTTTTTTCAGCCACTGGAG	0.607													False	0	False	5:176053513	0	G	176053513	A	G	176053513	2	3	42	1	0	0	0	0	0	0	0	1	14922	175	7	4		4	SNCB	5	176053513	Silent	SNP	A	TCGA-FB-AAPS-01A-12D-A397-08	25120689	176053513	4861747	21	3390											
RREB1	6239	broad.mit.edu	37	chr6	7229268	7229268	+	Missense_Mutation	SNP	G	G	T													ctgcggaggtgcatcagcgaGcaacaccgttttgtctgcga							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr6:7229268G>T	ENST00000379938.2	+	10	1473	c.936G>T	c.(934-936)gaG>gaT	p.E312D	RREB1_ENST00000379933.3_Missense_Mutation_p.E312D|RREB1_ENST00000349384.6_Missense_Mutation_p.E312D|RREB1_ENST00000334984.6_Missense_Mutation_p.E312D	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	312					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCATCAGCGAGCAACACCGTT	0.522													False	0	False	6:7229268	0	T	7229268	G	T	7229268	3	4	42	1	0	0	0	0	1	0	0	0	13758	962	34	3	962	3	RREB1	6	7229268	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		7229268	163885799	22	3391	35	2									
RREB1	6239	broad.mit.edu	37	chr6	7229269	7229269	+	Nonsense_Mutation	SNP	C	C	T													tgcggaggtgcatcagcgagCaacaccgttttgtctgcgac							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr6:7229269C>T	ENST00000379938.2	+	10	1474	c.937C>T	c.(937-939)Caa>Taa	p.Q313*	RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q313*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q313*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q313*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	313					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CATCAGCGAGCAACACCGTTT	0.522													False	0	False	6:7229269	0	T	7229269	C	T	7229269	4	4	42	1	0	0	0	0	0	1	0	0	13758	711	25	2	963	2	RREB1	6	7229269	Nonsense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	1	7229269	163885798	23	3392	35	2									
HECW1	23072	broad.mit.edu	37	chr7	43484438	43484438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggggaccccgagacccCgcggacacactacatccgca	11	18	0	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr7:43484438C>T	ENST00000395891.2	+	11	2272	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L	HECW1_ENST00000453890.1_Missense_Mutation_p.P556L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCGAGACCCCGCGGACACAC	0.692													False	0	True	7:43484438	0	T	43484438	C	T	43484438	3	4	42	1	0	0	0	0	1	0	0	0	7089	652	23	1	1701	1	HECW1	7	43484438	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08		43484438	115654225	24	3393											
KRBA1	84626	broad.mit.edu	37	chr7	149421894	149421894	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtccctcagccactggAgacaccagaggggtccccca	10	17	2	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr7:149421894A>G	ENST00000255992.10	+	9	1479	c.1080A>G	c.(1078-1080)ggA>ggG	p.G360G	KRBA1_ENST00000485033.2_Silent_p.G360G|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.G360G	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	360										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCACTGGAGACACCAGAG	0.642													False	0	False	7:149421894	0	G	149421894	A	G	149421894	2	3	42	1	0	0	0	0	0	0	0	1	8489	291	11	4		4	KRBA1	7	149421894	Silent	SNP	A	TCGA-FB-AAPS-01A-12D-A397-08	105937456	149421894	9716769	25	3394											
CSMD1	64478	broad.mit.edu	37	chr8	4494899	4494899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgttgaggctgtccatcGtaaactgataaaatatcaaa	7	8	1	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:4494899G>A	ENST00000602557.1	-	2	822	c.267C>T	c.(265-267)taC>taT	p.Y89Y	CSMD1_ENST00000539096.1_Silent_p.Y89Y|CSMD1_ENST00000520002.1_Silent_p.Y89Y|CSMD1_ENST00000537824.1_Silent_p.Y89Y|CSMD1_ENST00000602723.1_Silent_p.Y89Y|CSMD1_ENST00000400186.3_Silent_p.Y89Y|CSMD1_ENST00000542608.1_Silent_p.Y89Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	89	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGTCCATCGTAAACTGATA	0.378													False	0	False	8:4494899	0	A	4494899	G	A	4494899	2	1	42	1	0	0	0	0	0	0	0	1	3969	1140	40	1		1	CSMD1	8	4494899	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		4494899	141869123	26	3395											
SGK223	0	broad.mit.edu	37	chr8	8176529	8176529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagcaggaagcacacgCgccgctcgtacgcctcgggc	14	15	0	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:8176529C>T	ENST00000520004.1	-	6	3620	c.3356G>A	c.(3355-3357)cGc>cAc	p.R1119H	SGK223_ENST00000330777.4_Missense_Mutation_p.R1119H			Q86YV5	SG223_HUMAN		1119	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										GAAGCACACGCGCCGCTCGTA	0.667													False	0	False	8:8176529	0	T	8176529	C	T	8176529	3	4	42	1	0	0	0	0	1	0	0	0	14291	768	27	1	856	1	SGK223	8	8176529	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	3681630	8176529	138187493	27	3396											
MOS	4342	broad.mit.edu	37	chr8	57025548	57025548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatccaccaaaagcagccGcgcgctcggcctctgcgccg	12	17	1	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:57025548G>A	ENST00000311923.1	-	1	993	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	332	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AAAAGCAGCCGCGCGCTCGGC	0.572													False	0	True	8:57025548	0	A	57025548	G	A	57025548	3	1	42	1	0	0	0	0	1	0	0	0	9779	1086	38	1	49	1	MOS	8	57025548	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	48849019	57025548	89338474	28	3397											
TMEM215	401498	broad.mit.edu	37	chr9	32784266	32784266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttggtttcatgttcaccGtctctgggatgaaaggggag	13	7	4	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:32784266G>A	ENST00000342743.5	+	2	450	c.85G>A	c.(85-87)Gtc>Atc	p.V29I		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	29						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CATGTTCACCGTCTCTGGGAT	0.582													False	0	False	9:32784266	0	A	32784266	G	A	32784266	3	1	42	1	0	0	0	0	1	0	0	0	16220	1145	40	1	87	1	TMEM215	9	32784266	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		32784266	108429165	29	3398											
RPL12	6136	broad.mit.edu	37	chr9	130213570	130213570	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagcacgcaccgactttgatCtcgttggggtcgaacttcgg	13	11	1	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:130213570C>A	ENST00000361436.5	-	1	114	c.27G>T	c.(25-27)gaG>gaT	p.E9D	RPL12_ENST00000536368.1_Missense_Mutation_p.E9D|RPL12_ENST00000497322.1_5'UTR	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	9					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						CGACTTTGATCTCGTTGGGGT	0.642													False	0	False	9:130213570	0	A	130213570	C	A	130213570	3	1	42	1	0	0	0	0	1	0	0	0	13637	912	32	3	498	3	RPL12	9	130213570	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	97429304	130213570	10999861	30	3399											
CERCAM	51148	broad.mit.edu	37	chr9	131186737	131186737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccaccaagaaccgccagCgccggggctgcttccgtgtc	11	18	0	1	rs143495365		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:131186737C>T	ENST00000372842.1	+	6	3520	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	CERCAM_ENST00000372838.4_Missense_Mutation_p.R204C			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	204					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GAACCGCCAGCGCCGGGGCTG	0.647													False	0	False	9:131186737	0	T	131186737	C	T	131186737	3	4	42	1	0	0	0	0	1	0	0	0	3289	768	27	1	628	1	CERCAM	9	131186737	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	973167	131186737	10026694	31	3400											
CUBN	8029	broad.mit.edu	37	chr10	16982060	16982060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggcctggaagcccgtgCcgctgccagaaccatctgag	13	13	1	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:16982060C>T	ENST00000377833.4	-	37	5584	c.5519G>A	c.(5518-5520)gGc>gAc	p.G1840D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1840	CUB 12.		G -> S (in dbSNP:rs2271462).		cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGCCCGTGCCGCTGCCAGA	0.413													False	0	False	10:16982060	0	T	16982060	C	T	16982060	3	4	42	1	0	0	0	0	1	0	0	0	4076	739	26	2	5476	2	CUBN	10	16982060	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08		16982060	118552687	32	3401											
CUBN	8029	broad.mit.edu	37	chr10	17145151	17145151	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttcagttttgataacccaGaagcagttaacatcatgaac	6	8	2	3			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:17145151G>A	ENST00000377833.4	-	13	1568	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	501	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGATAACCCAGAAGCAGTTAA	0.358													False	0	False	10:17145151	0	A	17145151	G	A	17145151	2	1	42	1	0	0	0	0	0	0	0	1	4076	933	33	2		2	CUBN	10	17145151	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	163091	17145151	118389596	33	3402											
SLC39A12	221074	broad.mit.edu	37	chr10	18292166	18292166	+	Frame_Shift_Del	DEL	G	G	-													catcctgatgaattttataaGctccctaactgccttcatgg							TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:18292166delG	ENST00000377371.3	+	12	2021	c.1823delG	c.(1822-1824)agcfs	p.S609fs	SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000539911.1_Frame_Shift_Del_p.S476fs|SLC39A12_ENST00000377374.4_Frame_Shift_Del_p.S573fs|SLC39A12_ENST00000377369.2_Frame_Shift_Del_p.S610fs			Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	610					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AATTTTATAAGCTCCCTAACT	0.418													False	1	False	10:18292166	0	-	18292166	G	-	18292166	7	5	42	1	0	1	0	1	0	0	0	0	14695	971	34	0	1868	0	SLC39A12	10	18292166	Frame_Shift_Del	DEL	G	TCGA-FB-AAPS-01A-12D-A397-08	1147015	18292166	117242581	34	3403											
CDH23	64072	broad.mit.edu	37	chr10	73485201	73485201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccccggcccctggaccGggagcggaactcatcccacg	14	17	1	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:73485201G>A	ENST00000224721.6	+	29	3523	c.3518G>A	c.(3517-3519)cGg>cAg	p.R1173Q	C10orf105_ENST00000398786.2_Intron	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1168	Cadherin 11.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCCCTGGACCGGGAGCGGAAC	0.652													False	0	True	10:73485201	0	A	73485201	G	A	73485201	3	1	42	1	0	0	0	0	1	0	0	0	3131	1116	39	1	3924	1	CDH23	10	73485201	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	55193035	73485201	62049546	35	3404											
LGR4	55366	broad.mit.edu	37	chr11	27390249	27390249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaaaacagcctgctactGtagcacctaggaaagccaaa	11	10	0	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr11:27390249G>A	ENST00000379214.4	-	18	2464	c.2021C>T	c.(2020-2022)aCa>aTa	p.T674I	LGR4_ENST00000389858.4_Missense_Mutation_p.T650I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	674						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GCCTGCTACTGTAGCACCTAG	0.438													False	0	False	11:27390249	0	A	27390249	G	A	27390249	3	1	42	1	0	0	0	0	1	0	0	0	8808	1377	48	2	838	2	LGR4	11	27390249	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		27390249	107616267	36	3405											
ALX4	60529	broad.mit.edu	37	chr11	44296947	44296947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggccagctgttcccgcGcatacacgtctgggtagtgg	13	12	2	0	rs145166164	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr11:44296947G>A	ENST00000329255.3	-	2	831	c.728C>T	c.(727-729)gCg>gTg	p.A243V		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	243					hair follicle development			p.A243E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGTTCCCGCGCATACACGTC	0.617													False	0	False	11:44296947	0	A	44296947	G	A	44296947	3	1	42	1	0	0	0	0	1	0	0	0	558	1087	38	1	519	1	ALX4	11	44296947	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	16906698	44296947	90709569	37	3406											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	42	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08		25398284	108453611	38	3407											
LRP1	4035	broad.mit.edu	37	chr12	57598946	57598946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaaggagtttctgtgccGgaaccagcgctgcctctcct	11	13	2	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:57598946G>A	ENST00000243077.3	+	73	11715	c.11249G>A	c.(11248-11250)cGg>cAg	p.R3750Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3750	LDL-receptor class A 31.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTCTGTGCCGGAACCAGCGC	0.637													False	0	False	12:57598946	0	A	57598946	G	A	57598946	3	1	42	1	0	0	0	0	1	0	0	0	9013	1116	39	1	11539	1	LRP1	12	57598946	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	32200662	57598946	76252949	39	3408											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100466468	100466468	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acttggaaaatcctttccatCtggatagtaatattctgtga	7	7	2	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:100466468C>T	ENST00000279907.7	-	12	1743	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D161N|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D511N	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	511										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCCTTTCCATCTGGATAGTAA	0.274													False	0	False	12:100466468	0	T	100466468	C	T	100466468	3	4	42	1	0	0	0	0	1	0	0	0	17053	913	32	2	2927	2	UHRF1BP1L	12	100466468	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	42867522	100466468	33385427	40	3409											
FLT1	2321	broad.mit.edu	37	chr13	28979946	28979946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttctattattgccatgcGctgagtgatgctctcaattc	7	11	2	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:28979946G>A	ENST00000282397.4	-	11	1773	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	FLT1_ENST00000541932.1_Missense_Mutation_p.R508C|FLT1_ENST00000539099.1_Missense_Mutation_p.R508C	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	508	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATTGCCATGCGCTGAGTGATG	0.368													False	0	False	13:28979946	0	A	28979946	G	A	28979946	3	1	42	1	0	0	0	0	1	0	0	0	5981	1087	38	1	2837	1	FLT1	13	28979946	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		28979946	86189932	41	3410											
MTUS2	23281	broad.mit.edu	37	chr13	29599068	29599068	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacccatttccataaggaatTtcaccaacttcagggctttg	6	11	2	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:29599068T>A	ENST00000431530.3	+	1	321	c.263T>A	c.(262-264)tTt>tAt	p.F88Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	78						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CATAAGGAATTTCACCAACTT	0.453													False	0	True	13:29599068	0	A	29599068	T	A	29599068	3	1	42	1	0	0	0	0	1	0	0	0	10033	1841	64	5	265	5	MTUS2	13	29599068	Missense_Mutation	SNP	T	TCGA-FB-AAPS-01A-12D-A397-08	619122	29599068	85570810	42	3411											
FREM2	341640	broad.mit.edu	37	chr13	39425162	39425162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctccgcctggtactcgGcactccacaaagcaactctc	9	16	1	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:39425162G>A	ENST00000280481.7	+	10	6875	c.6659G>A	c.(6658-6660)gGc>gAc	p.G2220D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2220	Calx-beta 4.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGGTACTCGGCACTCCACAA	0.468													False	0	False	13:39425162	0	A	39425162	G	A	39425162	3	1	42	1	0	0	0	0	1	0	0	0	6087	1203	42	2	6697	2	FREM2	13	39425162	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	9826094	39425162	75744716	43	3412											
MYO16	23026	broad.mit.edu	37	chr13	109859074	109859074	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcagatcctgcaccacgctGagcccagggtgcctccccca	10	18	0	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:109859074G>A	ENST00000356711.2	+	35	5593	c.5467G>A	c.(5467-5469)Gag>Aag	p.E1823K	MYO16_ENST00000357550.2_Missense_Mutation_p.E1823K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1823					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCACCACGCTGAGCCCAGGGT	0.602													False	0	False	13:109859074	0	A	109859074	G	A	109859074	3	1	42	1	0	0	0	0	1	0	0	0	10131	1291	45	2	5601	2	MYO16	13	109859074	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	70433912	109859074	5310804	44	3413											
PTGER2	5732	broad.mit.edu	37	chr14	52781689	52781689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctctcgatcgggcacccCtacttctaccagcgccgcgt	8	18	2	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:52781689C>T	ENST00000245457.5	+	1	577	c.423C>T	c.(421-423)ccC>ccT	p.P141P	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	141						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TCGGGCACCCCTACTTCTACC	0.642													False	0	True	14:52781689	0	T	52781689	C	T	52781689	2	4	42	1	0	0	0	0	0	0	0	1	12820	668	24	2		2	PTGER2	14	52781689	Silent	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08		52781689	54567851	45	3414											
SMOC1	64093	broad.mit.edu	37	chr14	70418995	70418995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgagacccgaccctgggCgtggtgcatcgaggtagatg	16	11	0	2	rs111874562		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:70418995C>T	ENST00000381280.4	+	2	493	c.240C>T	c.(238-240)ggC>ggT	p.G80G	SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.G80G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	80	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGACCCTGGGCGTGGTGCATC	0.597													False	0	True	14:70418995	0	T	70418995	C	T	70418995	2	4	42	1	0	0	0	0	0	0	0	1	14881	755	27	1		1	SMOC1	14	70418995	Silent	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	17637306	70418995	36930545	46	3415											
KCNK10	54207	broad.mit.edu	37	chr14	88729828	88729828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggagttggagtcggagcCggagccgggggttgcccgtt	20	10	0	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:88729828C>T	ENST00000340700.5	-	2	556	c.105G>A	c.(103-105)ccG>ccA	p.P35P	KCNK10_ENST00000319231.5_Silent_p.P40P|KCNK10_ENST00000312350.5_Silent_p.P40P	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	35					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAGTCGGAGCCGGAGCCGGGG	0.642													False	0	True	14:88729828	0	T	88729828	C	T	88729828	2	4	42	1	0	0	0	0	0	0	0	1	8109	639	23	1		1	KCNK10	14	88729828	Silent	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	18310833	88729828	18619712	47	3416											
ATG2B	55102	broad.mit.edu	37	chr14	96779761	96779761	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggttcatcagcaatattcaaGaagtataaaatctataatca	5	6	5	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:96779761G>T	ENST00000359933.4	-	24	4547	c.3654C>A	c.(3652-3654)ttC>ttA	p.F1218L		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1218										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAATATTCAAGAAGTATAAAA	0.303													False	0	False	14:96779761	0	T	96779761	G	T	96779761	3	4	42	1	0	0	0	0	1	0	0	0	1098	933	33	3	2658	3	ATG2B	14	96779761	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	8049933	96779761	10569779	48	3417											
ASPG	374569	broad.mit.edu	37	chr14	104570767	104570767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcgcggcctggtcatcGtcaactgtacccactgcctc	10	17	2	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:104570767G>A	ENST00000551177.1	+	8	972	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	ASPG_ENST00000455920.2_Missense_Mutation_p.V294I|ASPG_ENST00000546892.2_Missense_Mutation_p.V294I	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	294	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CCTGGTCATCGTCAACTGTAC	0.657													False	0	False	14:104570767	0	A	104570767	G	A	104570767	3	1	42	1	0	0	0	0	1	0	0	0	1056	1145	40	1	910	1	ASPG	14	104570767	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	7791006	104570767	2778773	49	3418											
MAPKBP1	23005	broad.mit.edu	37	chr15	42109604	42109604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagtgatgggcaagtccGcatgatcagctgtggagcag	15	9	1	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr15:42109604G>A	ENST00000457542.2	+	15	2016	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R460H|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R583H|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R416H|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R577H	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	583										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGGCAAGTCCGCATGATCAGC	0.612													False	0	False	15:42109604	0	A	42109604	G	A	42109604	3	1	42	1	0	0	0	0	1	0	0	0	9359	1087	38	1	1806	1	MAPKBP1	15	42109604	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		42109604	60421788	50	3419											
FSD2	123722	broad.mit.edu	37	chr15	83438550	83438550	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggggccagccctgtTgtgagctgtgacccaaaatt	15	10	0	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr15:83438550T>C	ENST00000334574.8	-	8	1535	c.1354A>G	c.(1354-1356)Aac>Gac	p.N452D	FSD2_ENST00000541889.1_Intron			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	452	Fibronectin type-III 1.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CCAGCCCTGTTGTGAGCTGTG	0.478													False	0	False	15:83438550	0	C	83438550	T	C	83438550	3	2	42	1	0	0	0	0	1	0	0	0	6113	1812	63	4	919	4	FSD2	15	83438550	Missense_Mutation	SNP	T	TCGA-FB-AAPS-01A-12D-A397-08	41328946	83438550	19092842	51	3420											
MPG	4350	broad.mit.edu	37	chr16	133094	133094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcacagaactccgaggccGcatcgtggagaccgaggcat	14	12	0	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr16:133094G>A	ENST00000219431.4	+	4	590	c.359G>A	c.(358-360)cGc>cAc	p.R120H	MPG_ENST00000397817.1_Missense_Mutation_p.R103H	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	120			R -> C (in dbSNP:rs2308313).		depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTCCGAGGCCGCATCGTGGAG	0.637								Base excision repair (BER), DNA glycosylases					False	0	False	16:133094	0	A	133094	G	A	133094	3	1	42	1	0	0	0	0	1	0	0	0	9791	1087	38	1	397	1	MPG	16	133094	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		133094	90221659	52	3421											
ATP2C2	9914	broad.mit.edu	37	chr16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtgttgccaacaatgCggtcatcagaaagaacgccg	13	10	2	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr16:84476138C>T	ENST00000416219.2	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552													False	0	False	16:84476138	0	T	84476138	C	T	84476138	3	4	42	1	0	0	0	0	1	0	0	0	1148	768	27	1	1392	1	ATP2C2	16	84476138	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	84343044	84476138	5878615	53	3422											
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	14	12	3	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:7578395G>A	ENST00000420246.2	-	5	667	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCTCATGGTGGGGGCAG	0.642		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)			False	0	False	17:7578395	0	A	7578395	G	A	7578395	3	1	42	1	0	0	0	0	1	0	0	0	16464	1348	47	2	763	2	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		7578395	73616815	54	3423											
RDM1	201299	broad.mit.edu	37	chr17	34257116	34257116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaaagctgcttccggtcGcatgccttttgggctctgtg	12	10	1	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:34257116G>A	ENST00000394529.3	-	1	657	c.171C>T	c.(169-171)tgC>tgT	p.C57C	RDM1_ENST00000293273.6_Silent_p.C80C|RDM1_ENST00000425909.3_Silent_p.C80C|RDM1_ENST00000430160.2_Silent_p.C57C|RDM1_ENST00000591402.1_Silent_p.C57C|RDM1_ENST00000419453.2_Silent_p.C57C|RDM1_ENST00000394527.1_Silent_p.C57C|RDM1_ENST00000394528.3_Silent_p.C80C|RDM1_ENST00000431884.2_Silent_p.C80C	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN	RAD52 motif 1	80	Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.|RRM.				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCTTCCGGTCGCATGCCTTTT	0.483								Other identified genes with known or suspected DNA repair function					False	0	False	17:34257116	0	A	34257116	G	A	34257116	2	1	42	1	0	0	0	0	0	0	0	1	13276	1079	38	1		1	RDM1	17	34257116	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	26678721	34257116	46938094	55	3424											
TUBG1	7283	broad.mit.edu	37	chr17	40767013	40767013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatcgatgagtaccatgCggccacacggccagactaca	10	14	1	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:40767013C>T	ENST00000251413.3	+	11	1372	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	437					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GAGTACCATGCGGCCACACGG	0.577													False	0	False	17:40767013	0	T	40767013	C	T	40767013	3	4	42	1	0	0	0	0	1	0	0	0	16848	768	27	1	1352	1	TUBG1	17	40767013	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	6509897	40767013	40428197	56	3425											
AOC3	8639	broad.mit.edu	37	chr17	41006599	41006599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcaggccgccttcctcGtgggaagcgccacccctcgc	13	17	0	0	rs151291423		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:41006599G>A	ENST00000308423.2	+	2	1895	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	AOC3_ENST00000591562.1_Missense_Mutation_p.V36M	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	579					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CGCCTTCCTCGTGGGAAGCGC	0.652													False	0	False	17:41006599	0	A	41006599	G	A	41006599	3	1	42	1	0	0	0	0	1	0	0	0	730	1145	40	1	1741	1	AOC3	17	41006599	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	239586	41006599	40188611	57	3426											
AMZ2	51321	broad.mit.edu	37	chr17	66251858	66251858	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagactttaacccatgagatCggacacatatttggactgcg	9	10	0	2	rs138911562		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:66251858C>T	ENST00000359904.3	+	6	1900	c.768C>T	c.(766-768)atC>atT	p.I256I	AMZ2_ENST00000580753.1_Silent_p.I256I|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000359783.4_Silent_p.I198I|AMZ2_ENST00000577866.1_Silent_p.I256I|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577985.1_Silent_p.I256I|AMZ2_ENST00000392720.2_Silent_p.I256I	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	256							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCCATGAGATCGGACACATAT	0.478													False	0	False	17:66251858	0	T	66251858	C	T	66251858	2	4	42	1	0	0	0	0	0	0	0	1	597	874	31	1		1	AMZ2	17	66251858	Silent	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	25245259	66251858	14943352	58	3427											
NAPG	8774	broad.mit.edu	37	chr18	10530778	10530778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattctagcctgaaaactgGttttttaaaatggaagccag	8	7	2	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr18:10530778G>T	ENST00000322897.6	+	2	137	c.68G>T	c.(67-69)gGt>gTt	p.G23V	NAPG_ENST00000542979.1_Intron	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	23					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						CTGAAAACTGGTTTTTTAAAA	0.353													False	0	True	18:10530778	0	T	10530778	G	T	10530778	3	4	42	1	0	0	0	0	1	0	0	0	10231	1261	44	3	74	3	NAPG	18	10530778	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08		10530778	67546470	59	3428											
NXNL1	115861	broad.mit.edu	37	chr19	17571500	17571500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagaactcatctgtgagcCgcacgaagaagtccttgagg	11	10	2	4			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:17571500C>T	ENST00000301944.2	-	1	263	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	60	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						ATCTGTGAGCCGCACGAAGAA	0.612													False	0	False	19:17571500	0	T	17571500	C	T	17571500	3	4	42	1	0	0	0	0	1	0	0	0	10856	652	23	1	467	1	NXNL1	19	17571500	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08		17571500	41557483	60	3429											
ZNF254	9534	broad.mit.edu	37	chr19	24309885	24309885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcaaagcttttagccaGtcctcaacccttactacaca	6	13	1	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:24309885G>A	ENST00000357002.4	+	4	1198	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_ENST00000342944.6_Silent_p.Q276Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	361					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAGTCCTCAACCC	0.393													False	0	False	19:24309885	0	A	24309885	G	A	24309885	2	1	42	1	0	0	0	0	0	0	0	1	17881	1020	36	2		2	ZNF254	19	24309885	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	6738385	24309885	34819098	61	3430											
WDR62	284403	broad.mit.edu	37	chr19	36572414	36572414	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcagacaacaccattcGcttctggaacttggacagca	7	12	3	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:36572414G>T	ENST00000401500.2	+	10	1348	c.1313G>T	c.(1312-1314)cGc>cTc	p.R438L	WDR62_ENST00000388999.3_Missense_Mutation_p.R438L|WDR62_ENST00000270301.7_Missense_Mutation_p.R438L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	438					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AACACCATTCGCTTCTGGAAC	0.463													False	0	False	19:36572414	0	T	36572414	G	T	36572414	3	4	42	1	0	0	0	0	1	0	0	0	17397	1087	38	3	1351	3	WDR62	19	36572414	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	12262529	36572414	22556569	62	3431											
CATSPERG	57828	broad.mit.edu	37	chr19	38858385	38858385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaggactacagtgaggacGaaatctaccgcttcaacagc	9	11	3	1	rs147603617		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:38858385G>A	ENST00000409235.3	+	25	3014	c.2899G>A	c.(2899-2901)Gaa>Aaa	p.E967K	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E927K	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	967					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAGTGAGGACGAAATCTACCG	0.592													False	0	True	19:38858385	0	A	38858385	G	A	38858385	3	1	42	1	0	0	0	0	1	0	0	0	2712	1059	37	1	2993	1	CATSPERG	19	38858385	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	2285971	38858385	20270598	63	3432											
XRCC1	7515	broad.mit.edu	37	chr19	44055781	44055781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcacccactccttacgcaCgatgcggcctcccaggccta	8	19	0	0	rs2271980		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:44055781C>A	ENST00000262887.5	-	10	1688	c.1141G>T	c.(1141-1143)Gtg>Ttg	p.V381L	XRCC1_ENST00000543982.1_Missense_Mutation_p.V350L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	381	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCCTTACGCACGATGCGGCCT	0.622								Other BER factors					False	0	False	19:44055781	0	A	44055781	C	A	44055781	3	1	42	1	0	0	0	0	1	0	0	0	17536	536	19	3	792	3	XRCC1	19	44055781	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	5197396	44055781	15073202	64	3433											
DGCR2	9993	broad.mit.edu	37	chr22	19050735	19050735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgaatgccacctcccagCgaccttccaaggagcggttc	9	15	0	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr22:19050735C>A	ENST00000545799.1	-	5	796	c.596G>T	c.(595-597)cGc>cTc	p.R199L	DGCR2_ENST00000537045.1_Missense_Mutation_p.R161L|DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000263196.7_Missense_Mutation_p.R202L			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	202	C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CACCTCCCAGCGACCTTCCAA	0.587													False	0	False	22:19050735	0	A	19050735	C	A	19050735	3	1	42	1	0	0	0	0	1	0	0	0	4491	768	27	3	1071	3	DGCR2	22	19050735	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08		19050735	32253831	65	3434											
MIOX	55586	broad.mit.edu	37	chr22	50926164	50926164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacagtggacttcgtcaGgagcaaggtaggcgtttcct	13	10	1	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr22:50926164G>A	ENST00000395732.3	+	3	192	c.170G>A	c.(169-171)aGg>aAg	p.R57K	MIOX_ENST00000216075.6_Missense_Mutation_p.R57K|MIOX_ENST00000395733.3_Missense_Mutation_p.R57K			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	57					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACTTCGTCAGGAGCAAGGTA	0.657													False	0	False	22:50926164	0	A	50926164	G	A	50926164	3	1	42	1	0	0	0	0	1	0	0	0	9657	1000	35	2	180	2	MIOX	22	50926164	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	31875429	50926164	378402	66	3435											
CXorf21	80231	broad.mit.edu	37	chrX	30577641	30577641	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtaatttcagttgacatcaAttgcaataggcggctaaaga	9	6	2	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:30577641A>T	ENST00000378962.3	-	3	1154	c.832T>A	c.(832-834)Ttg>Atg	p.L278M		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	278										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GTTGACATCAATTGCAATAGG	0.398													False	0	False	X:30577641	0	T	30577641	A	T	30577641	3	4	42	1	0	0	0	0	1	0	0	0	4126	98	4	5	77	5	CXorf21	23	30577641	Missense_Mutation	SNP	A	TCGA-FB-AAPS-01A-12D-A397-08		30577641	124692919	67	3436											
IRS4	8471	broad.mit.edu	37	chrX	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-													ctgctgctagagctgccgctGccgccgctgctgcacctctt					rs2073114	byFrequency	TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616													False	2	True	X:107979510	0	-	107979512	GCC	-	107979510	7	5	42	1	0	1	0	1	0	0	0	0	7892	1319	46	0	3712	0	IRS4	23	107979510	In_Frame_Del	DEL	GCC	TCGA-FB-AAPS-01A-12D-A397-08	77401869	107979510	47291050	68	3437											
ACSL4	2182	broad.mit.edu	37	chrX	108924283	108924283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatgctgtgaatctcaaatCcttcagggtactctgcttta	8	10	3	1			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:108924283C>T	ENST00000340800.2	-	7	1226	c.722G>A	c.(721-723)gGa>gAa	p.G241E	ACSL4_ENST00000348502.6_Missense_Mutation_p.G200E|ACSL4_ENST00000469796.2_Missense_Mutation_p.G241E	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	241					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AATCTCAAATCCTTCAGGGTA	0.343													False	0	False	X:108924283	0	T	108924283	C	T	108924283	3	4	42	1	0	0	0	0	1	0	0	0	179	855	30	2	1457	2	ACSL4	23	108924283	Missense_Mutation	SNP	C	TCGA-FB-AAPS-01A-12D-A397-08	944773	108924283	46346277	69	3438											
SAGE1	55511	broad.mit.edu	37	chrX	134989524	134989524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatggaaaatgaccaaccGcaacctaataacgtattgtc	7	9	0	2			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:134989524G>A	ENST00000535938.1	+	9	1097	c.930G>A	c.(928-930)ccG>ccA	p.P310P	SAGE1_ENST00000370709.3_Silent_p.P310P|SAGE1_ENST00000324447.3_Silent_p.P310P|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	310										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATGACCAACCGCAACCTAATA	0.408													False	0	False	X:134989524	0	A	134989524	G	A	134989524	2	1	42	1	0	0	0	0	0	0	0	1	13888	1074	38	1		1	SAGE1	23	134989524	Silent	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	26065241	134989524	20281036	70	3439											
CNGA2	1260	broad.mit.edu	37	chrX	150912423	150912423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggggattacatttgccGcaaaggggacatcggcaagg	14	9	0	0			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:150912423G>A	ENST00000329903.4	+	6	1481	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	483					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					tacatttgccgcaaaggggac	0.527													False	0	False	X:150912423	0	A	150912423	G	A	150912423	3	1	42	1	0	0	0	0	1	0	0	0	3620	1087	38	1	1470	1	CNGA2	23	150912423	Missense_Mutation	SNP	G	TCGA-FB-AAPS-01A-12D-A397-08	15922899	150912423	4358137	71	3440											
TMEM52	339456	broad.mit.edu	37	chr1	1849760	1849760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtcgcagggctgccgtGctggtggcagatgtggctgg	18	11	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:1849760G>A	ENST00000378602.3	-	1	476	c.236C>T	c.(235-237)gCa>gTa	p.A79V	TMEM52_ENST00000310991.3_Missense_Mutation_p.A94V			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	94						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGGCTGCCGTGCTGGTGGCAG	0.637													False	0	False	1:1849760	0	A	1849760	G	A	1849760	3	1	43	1	0	0	0	0	1	0	0	0	16260	1319	46	2	356	2	TMEM52	1	1849760	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		1849760	247400861	1	3441											
C1QB	713	broad.mit.edu	37	chr1	22986137	22986137	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggataaaaggagagaaagGtaccatgggatttagcagga	15	3	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:22986137G>A	ENST00000509305.1	+	2	527		c.e2+1		C1QB_ENST00000314933.6_Splice_Site			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain						complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGAGAAAGGTACCATGGGA	0.577													False	0	False	1:22986137	0	A	22986137	G	A	22986137	5	1	43	1	0	0	0	0	0	0	1	0	1970	1275	44	2	190	2	C1QB	1	22986137	Splice_Site	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	21136377	22986137	226264484	2	3442											
MACF1	23499	broad.mit.edu	37	chr1	39800921	39800922	+	Frame_Shift_Del	DEL	CT	CT	-													gtgtcattgacacacccttaCtctgaatgtgattttaaact							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:39800921_39800922delCT	ENST00000372915.3	+	36	8763_8764	c.8676_8677delCT	c.(8674-8679)tactctfs	p.S2893fs	MACF1_ENST00000567887.1_Frame_Shift_Del_p.S2925fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Del_p.S1328fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Frame_Shift_Del_p.S2888fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2893					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACACCCTTACTCTGAATGTGA	0.332													False	2	False	1:39800921	0	-	39800922	CT	-	39800921	7	5	43	1	0	1	0	1	0	0	0	0	9207	576	20	0	8752	0	MACF1	1	39800921	Frame_Shift_Del	DEL	CT	TCGA-FB-AAPU-01A-31D-A40W-08	16814784	39800921	209449700	3	3443											
TMEM53	79639	broad.mit.edu	37	chr1	45120689	45120689	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgacgggtctgcaggaGctccagcacgtagcggtaca	15	11	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:45120689G>C	ENST00000372237.3	-	3	539	c.376C>G	c.(376-378)Ctc>Gtc	p.L126V	TMEM53_ENST00000372235.3_Missense_Mutation_p.L96V|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372242.3_Missense_Mutation_p.L126V|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	126						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GTCTGCAGGAGCTCCAGCACG	0.612											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:45120689	0	C	45120689	G	C	45120689	3	2	43	1	0	0	0	0	1	0	0	0	16261	971	34	5	461	5	TMEM53	1	45120689	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	5319768	45120689	204129932	4	3444											
DMRTA2	63950	broad.mit.edu	37	chr1	50884890	50884890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagggcccaggccggccGccaggcccccacggtggtgg	17	18	0	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:50884890G>A	ENST00000404795.3	-	3	1468	c.1076C>T	c.(1075-1077)gCg>gTg	p.A359V	DMRTA2_ENST00000418121.1_Missense_Mutation_p.A359V	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	359	Ala-rich.|Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						CAGGCCGGCCGCCAGGCCCCC	0.766													False	0	True	1:50884890	0	A	50884890	G	A	50884890	3	1	43	1	0	0	0	0	1	0	0	0	4619	1087	38	1	556	1	DMRTA2	1	50884890	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	5764201	50884890	198365731	5	3445											
ZZZ3	26009	broad.mit.edu	37	chr1	78031331	78031331	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgttctcttccatgtcatctGtttgctggaaagtagtttgg	10	7	3	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:78031331G>C	ENST00000370801.3	-	15	3181	c.2706C>G	c.(2704-2706)aaC>aaG	p.N902K	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.N408K	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	902					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CATGTCATCTGTTTGCTGGAA	0.388													False	0	True	1:78031331	0	C	78031331	G	C	78031331	3	2	43	1	0	0	0	0	1	0	0	0	18338	1368	48	5	9	5	ZZZ3	1	78031331	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	27146441	78031331	171219290	6	3446											
MCOLN2	255231	broad.mit.edu	37	chr1	85417986	85417986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaattgtctgtaggtcaatGcctttaagatgaaaggagat	11	4	2	4			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:85417986G>A	ENST00000370608.3	-	6	754	c.687C>T	c.(685-687)ggC>ggT	p.G229G	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Silent_p.G201G	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	229						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GTAGGTCAATGCCTTTAAGAT	0.328													False	0	False	1:85417986	0	A	85417986	G	A	85417986	2	1	43	1	0	0	0	0	0	0	0	1	9463	1306	46	2		2	MCOLN2	1	85417986	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	7386655	85417986	163832635	7	3447											
ABCA4	24	broad.mit.edu	37	chr1	94578575	94578575	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcattccttaaccagatcaaGaccagaaataaagataaagg	7	8	1	4			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:94578575G>C	ENST00000370225.3	-	2	200	c.114C>G	c.(112-114)gtC>gtG	p.V38V	ABCA4_ENST00000535735.1_Silent_p.V38V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	38					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCAGATCAAGACCAGAAATA	0.443													False	0	False	1:94578575	0	C	94578575	G	C	94578575	2	2	43	1	0	0	0	0	0	0	0	1	34	929	33	5		5	ABCA4	1	94578575	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	9160589	94578575	154672046	8	3448											
NBPF16	728936	broad.mit.edu	37	chr1	148753330	148753330	+	Frame_Shift_Del	DEL	T	T	-													tgttattcgactccttcagaTtatcttgaactgcctgactt							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:148753330delT	ENST00000417839.1	+	12	1537	c.1347delT	c.(1345-1347)gatfs	p.D449fs		NM_001102663.1	NP_001096133.1			neuroblastoma breakpoint family, member 16											breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CTCCTTCAGATTATCTTGAAC	0.493													False	2	False	1:148753330	0	-	148753330	T	-	148753330	7	5	43	1	0	1	0	1	0	0	0	0	10264	1490	52	0	3462	0	NBPF16	1	148753330	Frame_Shift_Del	DEL	T	TCGA-FB-AAPU-01A-31D-A40W-08	54174755	148753330	100497291	9	3449											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	43	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-FB-AAPU-01A-31D-A40W-08	3918185	152671515	96579106	10	3450											
DCST2	127579	broad.mit.edu	37	chr1	154998864	154998864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgatgaagaagcataGgccatacatgacgcctggga	14	8	0	4			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:154998864G>T	ENST00000368424.3	-	10	1583	c.1525C>A	c.(1525-1527)Cta>Ata	p.L509I	DCST2_ENST00000295536.5_Missense_Mutation_p.L509I	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	509						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGAAGCATAGGCCATACATG	0.637													False	0	False	1:154998864	0	T	154998864	G	T	154998864	3	4	43	1	0	0	0	0	1	0	0	0	4328	991	35	3	820	3	DCST2	1	154998864	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	2327349	154998864	94251757	11	3451											
DCST1	149095	broad.mit.edu	37	chr1	155018875	155018875	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cactgcccattctgctgctgCtggtggtgctgtgtggcttg	14	11	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:155018875C>G	ENST00000295542.1	+	13	1504	c.1408C>G	c.(1408-1410)Ctg>Gtg	p.L470V	DCST1_ENST00000392480.1_Missense_Mutation_p.L470V|DCST1_ENST00000423025.2_Missense_Mutation_p.L445V|DCST1_ENST00000368419.2_Missense_Mutation_p.L470V	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	470						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCTGCTGCTGCTGGTGGTGCT	0.627													False	0	True	1:155018875	0	G	155018875	C	G	155018875	3	3	43	1	0	0	0	0	1	0	0	0	4327	796	28	5	1454	5	DCST1	1	155018875	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	20011	155018875	94231746	12	3452											
CCDC19	25790	broad.mit.edu	37	chr1	159850480	159850480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagtttttgttgctgccttCgttccatgtcctgccagcaa	8	12	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:159850480C>T	ENST00000426543.2	-	8	1108	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	CCDC19_ENST00000368099.4_Missense_Mutation_p.R303Q|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	303						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTGCTGCCTTCGTTCCATGTC	0.478													False	0	False	1:159850480	0	T	159850480	C	T	159850480	3	4	43	1	0	0	0	0	1	0	0	0	2816	884	31	1	767	1	CCDC19	1	159850480	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	4831605	159850480	89400141	13	3453											
ADCY10	55811	broad.mit.edu	37	chr1	167830232	167830232	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctaggcctaggacattGgccatgaacatctggatggt	13	8	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:167830232G>T	ENST00000367848.1	-	15	1907	c.1410C>A	c.(1408-1410)gcC>gcA	p.A470A	ADCY10_ENST00000545172.1_Silent_p.A409A|ADCY10_ENST00000367851.4_Silent_p.A562A			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	562					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTAGGACATTGGCCATGAACA	0.373													False	0	False	1:167830232	0	T	167830232	G	T	167830232	2	4	43	1	0	0	0	0	0	0	0	1	293	1335	47	3		3	ADCY10	1	167830232	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	7979752	167830232	81420389	14	3454											
F5	2153	broad.mit.edu	37	chr1	169510226	169510226	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtttgtctggctgaggtctaGagaaagggttgtatggctgg	17	4	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:169510226G>A	ENST00000367796.3	-	13	4318	c.4117C>T	c.(4117-4119)Cta>Tta	p.L1373L	F5_ENST00000367797.3_Silent_p.L1368L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1368	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGAGGTCTAGAGAAAGGGTT	0.522													False	0	False	1:169510226	0	A	169510226	G	A	169510226	2	1	43	1	0	0	0	0	0	0	0	1	5381	933	33	2		2	F5	1	169510226	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	1679994	169510226	79740395	15	3455											
F5	2153	broad.mit.edu	37	chr1	169510489	169510489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagggttgtatggctgAggtctggagaaaggggcatc	18	4	1	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:169510489A>G	ENST00000367796.3	-	13	4055	c.3854T>C	c.(3853-3855)cTc>cCc	p.L1285P	F5_ENST00000367797.3_Missense_Mutation_p.L1280P			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1280	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		L -> I (in dbSNP:rs1046712).		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTATGGCTGAGGTCTGGAGA	0.498													False	0	False	1:169510489	0	G	169510489	A	G	169510489	3	3	43	1	0	0	0	0	1	0	0	0	5381	304	11	4	2887	4	F5	1	169510489	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	263	169510489	79740132	16	3456											
TNN	63923	broad.mit.edu	37	chr1	175086303	175086303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtgggcccagaagggggCccaggagagcaagaaggctg	19	9	0	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:175086303C>A	ENST00000239462.4	+	10	2461	c.2348C>A	c.(2347-2349)gCc>gAc	p.A783D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	783	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGAAGGGGGCCCAGGAGAGC	0.572													False	0	True	1:175086303	0	A	175086303	C	A	175086303	3	1	43	1	0	0	0	0	1	0	0	0	16405	739	26	3	2382	3	TNN	1	175086303	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	5575814	175086303	74164318	17	3457											
PAPPA2	60676	broad.mit.edu	37	chr1	176564265	176564265	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgtgacaatgtggaaTtgatctcccagtacaatgga	10	8	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:176564265T>C	ENST00000367662.3	+	3	2689	c.1525T>C	c.(1525-1527)Ttg>Ctg	p.L509L	PAPPA2_ENST00000367661.3_Silent_p.L509L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	509	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAATGTGGAATTGATCTCCCA	0.537													False	0	False	1:176564265	0	C	176564265	T	C	176564265	2	2	43	1	0	0	0	0	0	0	0	1	11501	1490	52	4		4	PAPPA2	1	176564265	Silent	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	1477962	176564265	72686356	18	3458											
PAPPA2	60676	broad.mit.edu	37	chr1	176659486	176659486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaagagtgagctgtgccGggaaccagagcccactagtg	13	12	0	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:176659486G>A	ENST00000367662.3	+	5	3515	c.2351G>A	c.(2350-2352)cGg>cAg	p.R784Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R784Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	784					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGCTGTGCCGGGAACCAGAG	0.577													False	0	True	1:176659486	0	A	176659486	G	A	176659486	3	1	43	1	0	0	0	0	1	0	0	0	11501	1116	39	1	2365	1	PAPPA2	1	176659486	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	95221	176659486	72591135	19	3459											
FH	2271	broad.mit.edu	37	chr1	241671912	241671912	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcctatacctgcccaagAgtaagtggaacagcatcctg	8	12	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:241671912A>G	ENST00000366560.3	-	5	767	c.729T>C	c.(727-729)acT>acC	p.T243T		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	243					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CCTGCCCAAGAGTAAGTGGAA	0.398			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer				False	0	False	1:241671912	0	G	241671912	A	G	241671912	2	3	43	1	0	0	0	0	0	0	0	1	5915	291	11	4		4	FH	1	241671912	Silent	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	65012426	241671912	7578709	20	3460											
PXDN	7837	broad.mit.edu	37	chr2	1653014	1653014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgcacacgttgctgcaGtgctgtccgtcggagaagcg	14	11	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:1653014G>A	ENST00000252804.4	-	17	2588	c.2538C>T	c.(2536-2538)caC>caT	p.H846H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	846					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGTTGCTGCAGTGCTGTCCGT	0.647													False	0	False	2:1653014	0	A	1653014	G	A	1653014	2	1	43	1	0	0	0	0	0	0	0	1	12926	1020	36	2		2	PXDN	2	1653014	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		1653014	241546359	21	3461											
ITSN2	50618	broad.mit.edu	37	chr2	24521586	24521586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttagagtttaacctgacaAtttcttcttgttctctattc	4	8	3	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:24521586A>G	ENST00000355123.4	-	13	1885	c.1442T>C	c.(1441-1443)aTt>aCt	p.I481T	ITSN2_ENST00000361999.3_Missense_Mutation_p.I481T|ITSN2_ENST00000406921.3_Missense_Mutation_p.I481T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	481					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAACCTGACAATTTCTTCTTG	0.398													False	0	True	2:24521586	0	G	24521586	A	G	24521586	3	3	43	1	0	0	0	0	1	0	0	0	7977	101	4	4	3814	4	ITSN2	2	24521586	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	22868572	24521586	218677787	22	3462											
KCNG3	170850	broad.mit.edu	37	chr2	42719978	42719978	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagaagcagtgcgtcctaccCggagggctccctcccagggc	14	15	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:42719978C>G	ENST00000306078.1	-	1	1259	c.664G>C	c.(664-666)Ggg>Cgg	p.G222R	KCNG3_ENST00000394973.4_Intron	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	222						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						GCGTCCTACCCGGAGGGCTCC	0.711													False	0	True	2:42719978	0	G	42719978	C	G	42719978	5	3	43	1	0	0	0	0	0	0	1	0	8079	666	23	5	654	5	KCNG3	2	42719978	Splice_Site	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	18198392	42719978	200479395	23	3463											
STEAP3	55240	broad.mit.edu	37	chr2	120005698	120005698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgctcagcttcttctgCgccgccctgcacgccctcta	10	18	4	0	rs145832236		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:120005698C>T	ENST00000354888.5	+	4	1440	c.936C>T	c.(934-936)tgC>tgT	p.C312C	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Silent_p.C312C|STEAP3_ENST00000409811.1_Silent_p.C312C|STEAP3_ENST00000393108.2_Silent_p.C312C|STEAP3_ENST00000393110.2_Silent_p.C322C|STEAP3_ENST00000450943.2_Silent_p.C312C|STEAP3_ENST00000393106.2_Silent_p.C312C|STEAP3_ENST00000393107.2_Silent_p.C312C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	312	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCTTCTTCTGCGCCGCCCTGC	0.677													False	0	False	2:120005698	0	T	120005698	C	T	120005698	2	4	43	1	0	0	0	0	0	0	0	1	15361	776	27	1		1	STEAP3	2	120005698	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	77285720	120005698	123193675	24	3464											
RND3	390	broad.mit.edu	37	chr2	151326505	151326505	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagataatgaaagattcacAtcacagtgcagctcttcgct	7	9	3	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:151326505A>G	ENST00000375734.2	-	5	980	c.731T>C	c.(730-732)aTg>aCg	p.M244T	RND3_ENST00000263895.4_Missense_Mutation_p.M244T|RND3_ENST00000409557.1_Missense_Mutation_p.M115T	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	244					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		AAAGATTCACATCACAGTGCA	0.423													False	0	True	2:151326505	0	G	151326505	A	G	151326505	3	3	43	1	0	0	0	0	1	0	0	0	13500	217	8	4	7	4	RND3	2	151326505	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	31320807	151326505	91872868	25	3465											
SGOL2	151246	broad.mit.edu	37	chr2	201436126	201436126	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcaaattgaggataatgatGactttcaattgcagaaaact	7	5	2	4			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:201436126G>A	ENST00000357799.4	+	7	1155	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	353					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GGATAATGATGACTTTCAATT	0.373													False	0	False	2:201436126	0	A	201436126	G	A	201436126	3	1	43	1	0	0	0	0	1	0	0	0	14298	1290	45	2	1079	2	SGOL2	2	201436126	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	50109621	201436126	41763247	26	3466											
UGT1A10	0	broad.mit.edu	37	chr2	234545236	234545236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctgacctgtggctttgCcgaggcagggaagctgctgg	16	10	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:234545236C>T	ENST00000344644.5	+	1	137	c.68C>T	c.(67-69)gCc>gTc	p.A23V	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.A23V	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGTGGCTTTGCCGAGGCAGGG	0.592													False	0	False	2:234545236	0	T	234545236	C	T	234545236	3	4	43	1	0	0	0	0	1	0	0	0	17029	739	26	2	70	2	UGT1A10	2	234545236	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	33109110	234545236	8654137	27	3467											
SPP2	6694	broad.mit.edu	37	chr2	234959698	234959698	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaattcccagtcactgAgtccgtatctgtttcgggca	10	10	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:234959698A>T	ENST00000168148.3	+	2	257	c.169A>T	c.(169-171)Agt>Tgt	p.S57C	SPP2_ENST00000373368.1_Missense_Mutation_p.S57C|SPP2_ENST00000492481.1_3'UTR	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	57					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		CCAGTCACTGAGTCCGTATCT	0.468													False	0	False	2:234959698	0	T	234959698	A	T	234959698	3	4	43	1	0	0	0	0	1	0	0	0	15169	304	11	5	175	5	SPP2	2	234959698	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	414462	234959698	8239675	28	3468											
OGG1	4968	broad.mit.edu	37	chr3	9798512	9798512	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagcggtgagtgtaccTaggtgtcctccctaggtttc	12	12	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:9798512T>A	ENST00000339511.5	+	6	1266	c.960T>A	c.(958-960)ccT>ccA	p.P320P	OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302003.7_Intron|OGG1_ENST00000344629.7_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron	NM_016819.3	NP_058212.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	0			S -> T (in dbSNP:rs1801128).		depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					TGAGTGTACCTAGGTGTCCTC	0.572								Base excision repair (BER), DNA glycosylases					False	0	False	3:9798512	0	A	9798512	T	A	9798512	2	1	43	1	0	0	0	0	0	0	0	1	10913	1509	53	5		5	OGG1	3	9798512	Silent	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08		9798512	188223918	29	3469											
CYP8B1	1582	broad.mit.edu	37	chr3	42917299	42917299	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcccagcactggaccccAgagaaccatggctatgctcc	9	16	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:42917299A>C	ENST00000316161.4	-	1	334	c.10T>G	c.(10-12)Tgg>Ggg	p.W4G	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.W4G	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	4					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		ACTGGACCCCAGAGAACCATG	0.592													False	0	True	3:42917299	0	C	42917299	A	C	42917299	3	2	43	1	0	0	0	0	1	0	0	0	4223	188	7	4	1499	4	CYP8B1	3	42917299	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	33118787	42917299	155105131	30	3470											
CCDC58	131076	broad.mit.edu	37	chr3	122081856	122081856	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacttcttcaacattcagttCtgactgcatccatttcaact	3	13	5	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:122081856C>T	ENST00000291458.5	-	4	349	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	CCDC58_ENST00000466854.1_5'UTR|CCDC58_ENST00000479899.1_Missense_Mutation_p.E101K|CCDC58_ENST00000497726.1_Missense_Mutation_p.E24K	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	115										large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		ACATTCAGTTCTGACTGCATC	0.313													False	0	False	3:122081856	0	T	122081856	C	T	122081856	3	4	43	1	0	0	0	0	1	0	0	0	2849	922	32	2	99	2	CCDC58	3	122081856	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	79164557	122081856	75940574	31	3471											
MYLK	4638	broad.mit.edu	37	chr3	123418920	123418920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggtctttccgttcagcGtccagatgatggtggctggg	16	8	2	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:123418920G>A	ENST00000360772.3	-	19	3773	c.3395C>T	c.(3394-3396)aCg>aTg	p.T1132M	MYLK_ENST00000346322.5_Missense_Mutation_p.T1063M|MYLK_ENST00000360304.3_Missense_Mutation_p.T1132M|MYLK_ENST00000475616.1_Missense_Mutation_p.T1132M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1132M			Q15746	MYLK_HUMAN	myosin light chain kinase	1132	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCGTTCAGCGTCCAGATGAT	0.567													False	0	False	3:123418920	0	A	123418920	G	A	123418920	3	1	43	1	0	0	0	0	1	0	0	0	10123	1145	40	1	2417	1	MYLK	3	123418920	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	1337064	123418920	74603510	32	3472											
XRN1	54464	broad.mit.edu	37	chr3	142094760	142094760	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttgagatttaaacccAcatttgctttatggtctcca	6	8	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:142094760A>C	ENST00000264951.4	-	25	2975	c.2858T>G	c.(2857-2859)gTg>gGg	p.V953G	XRN1_ENST00000392981.2_Missense_Mutation_p.V953G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	953					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATTTAAACCCACATTTGCTTT	0.403													False	0	True	3:142094760	0	C	142094760	A	C	142094760	3	2	43	1	0	0	0	0	1	0	0	0	17543	159	6	4	2334	4	XRN1	3	142094760	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	18675840	142094760	55927670	33	3473											
CCNL1	57018	broad.mit.edu	37	chr3	156866115	156866115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggagcgagatcgttcaCgcctgtccctatgatgtccc	10	13	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:156866115C>T	ENST00000295926.3	-	11	1614	c.1496G>A	c.(1495-1497)cGt>cAt	p.R499H	CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	499					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGATCGTTCACGCCTGTCCCT	0.512													False	0	False	3:156866115	0	T	156866115	C	T	156866115	3	4	43	1	0	0	0	0	1	0	0	0	2954	536	19	1	88	1	CCNL1	3	156866115	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	14771355	156866115	41156315	34	3474											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	43	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-FB-AAPU-01A-31D-A40W-08		40434705	150719571	35	3475											
LIMCH1	22998	broad.mit.edu	37	chr4	41605916	41605916	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgattatagtaggaagctGaaaaatgtaagtgttttaac	9	3	0	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:41605916G>A	ENST00000313860.7	+	5	423	c.369G>A	c.(367-369)ctG>ctA	p.L123L	LIMCH1_ENST00000508501.1_Silent_p.L123L|LIMCH1_ENST00000512632.1_Silent_p.L123L|LIMCH1_ENST00000511496.1_Intron|LIMCH1_ENST00000512946.1_Silent_p.L123L|LIMCH1_ENST00000512820.1_Silent_p.L123L|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000513024.1_5'UTR	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	123	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTAGGAAGCTGAAAAATGTAA	0.338													False	0	True	4:41605916	0	A	41605916	G	A	41605916	2	1	43	1	0	0	0	0	0	0	0	1	8849	1277	45	2		2	LIMCH1	4	41605916	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	1171211	41605916	149548360	36	3476											
FIP1L1	81608	broad.mit.edu	37	chr4	54248462	54248462	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tagtgctaatcctccatctgGaattgaagatgaaactgctg	9	8	1	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:54248462G>C	ENST00000507166.1	+	4	188	c.188G>C	c.(187-189)gGa>gCa	p.G63A	FIP1L1_ENST00000337488.6_Missense_Mutation_p.G63A|FIP1L1_ENST00000306932.6_Missense_Mutation_p.G48A|FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000358575.5_Missense_Mutation_p.G48A|FIP1L1_ENST00000507922.1_Missense_Mutation_p.G48A			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	63	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCTCCATCTGGAATTGAAGAT	0.333			T	PDGFRA	idiopathic hypereosinophilic syndrome								False	0	False	4:54248462	0	C	54248462	G	C	54248462	3	2	43	1	0	0	0	0	1	0	0	0	5936	1174	41	5	202	5	FIP1L1	4	54248462	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	12642546	54248462	136905814	37	3477											
ADAMTS3	9508	broad.mit.edu	37	chr4	73205337	73205337	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccgcgtgtctgcggcgtctCattgtttcattcagctgctg	11	13	4	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:73205337C>G	ENST00000286657.4	-	5	771	c.735G>C	c.(733-735)atG>atC	p.M245I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	245					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCGGCGTCTCATTGTTTCAT	0.488													False	0	False	4:73205337	0	G	73205337	C	G	73205337	3	3	43	1	0	0	0	0	1	0	0	0	267	826	29	5	2954	5	ADAMTS3	4	73205337	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	18956875	73205337	117948939	38	3478											
ADAMTS3	9508	broad.mit.edu	37	chr4	73414444	73414444	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaatcttttccaaatgcCgtgatgttaaagaacaactg	7	7	1	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:73414444C>G	ENST00000286657.4	-	3	291	c.255G>C	c.(253-255)acG>acC	p.T85T	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	85					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCCAAATGCCGTGATGTTAA	0.493													False	0	False	4:73414444	0	G	73414444	C	G	73414444	2	3	43	1	0	0	0	0	0	0	0	1	267	639	23	5		5	ADAMTS3	4	73414444	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	209107	73414444	117739832	39	3479											
PLK4	0	broad.mit.edu	37	chr4	128816239	128816239	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgaaaaatgttggttgGgctacacaggtgagaagttt	13	3	0	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:128816239G>C	ENST00000270861.5	+	14	2968	c.2694G>C	c.(2692-2694)tgG>tgC	p.W898C	PLK4_ENST00000513090.1_Missense_Mutation_p.W866C|PLK4_ENST00000514379.1_Missense_Mutation_p.W857C|PLK4_ENST00000515069.1_Missense_Mutation_p.W820C|PLK4_ENST00000507249.1_Missense_Mutation_p.W837C	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	898	POLO box.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ATGTTGGTTGGGCTACACAGG	0.323													False	0	True	4:128816239	0	C	128816239	G	C	128816239	3	2	43	1	0	0	0	0	1	0	0	0	12167	1241	43	5	2748	5	PLK4	4	128816239	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	55401795	128816239	62338037	40	3480											
SORBS2	8470	broad.mit.edu	37	chr4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggatgctgttgtccgGcaagctcccccttttctttt	10	12	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:186544317G>A	ENST00000431808.1	-	14	2817	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522													False	0	False	4:186544317	0	A	186544317	G	A	186544317	3	1	43	1	0	0	0	0	1	0	0	0	15008	1203	42	2	1084	2	SORBS2	4	186544317	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	57728078	186544317	4609959	41	3481											
PLK2	10769	broad.mit.edu	37	chr5	57750426	57750426	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagttacatctttgtAagagcatgttcagggcatat	8	7	4	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:57750426A>C	ENST00000274289.3	-	14	2342	c.2042T>G	c.(2041-2043)tTa>tGa	p.L681*	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	681					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACATCTTTGTAAGAGCATGTT	0.408													False	0	False	5:57750426	0	C	57750426	A	C	57750426	4	2	43	1	0	0	0	0	0	1	0	0	12165	372	13	4	19	4	PLK2	5	57750426	Nonsense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08		57750426	123164834	42	3482											
F2RL1	2150	broad.mit.edu	37	chr5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctttgccgaagtgtccGcactgtaaagcagatgcaag	10	11	1	1	rs149001132		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	365					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.R365H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448													False	0	False	5:76129526	0	A	76129526	G	A	76129526	3	1	43	1	0	0	0	0	1	0	0	0	5377	1087	38	1	1100	1	F2RL1	5	76129526	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	18379100	76129526	104785734	43	3483											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	43	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-FB-AAPU-01A-31D-A40W-08	2480918	78610444	102304816	44	3484											
TSSK1B	83942	broad.mit.edu	37	chr5	112769663	112769663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaagggttcagttccccGggaactctccccctccttgt	8	17	2	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:112769663G>A	ENST00000390666.3	-	1	1065	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	292					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCAGTTCCCCGGGAACTCTCC	0.637													False	0	True	5:112769663	0	A	112769663	G	A	112769663	3	1	43	1	0	0	0	0	1	0	0	0	16751	1115	39	1	233	1	TSSK1B	5	112769663	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	34159219	112769663	68145597	45	3485											
ZNF608	57507	broad.mit.edu	37	chr5	123980108	123980111	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													gtccttccagttcacaggagTctttcgatcatcatttttca							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	TCTT	TCTT	-	-	TCTT	TCTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:123980108_123980111delTCTT	ENST00000306315.5	-	5	4384_4387	c.3949_3952delAAGA	c.(3949-3954)aagactfs	p.KT1317fs	ZNF608_ENST00000504926.1_Frame_Shift_Del_p.KT890fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1317						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTCACAGGAGTCTTTCGATCATCA	0.461													False	1	True	5:123980108	0	-	123980111	TCTT	-	123980108	7	5	43	1	0	1	0	1	0	0	0	0	18117	1667	58	0	606	0	ZNF608	5	123980108	Frame_Shift_Del	DEL	TCTT	TCGA-FB-AAPU-01A-31D-A40W-08	11210445	123980108	56935152	46	3486											
ZNF608	57507	broad.mit.edu	37	chr5	123984759	123984759	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcccggggcagcagcagcagAcctcgctctcttccctctgc	11	18	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:123984759A>T	ENST00000306315.5	-	4	1753	c.1318T>A	c.(1318-1320)Tct>Act	p.S440T	ZNF608_ENST00000504926.1_Missense_Mutation_p.S13T	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	440						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCAGCAGCAGACCTCGCTCTC	0.597													False	0	True	5:123984759	0	T	123984759	A	T	123984759	3	4	43	1	0	0	0	0	1	0	0	0	18117	275	10	5	3244	5	ZNF608	5	123984759	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	4651	123984759	56930501	47	3487											
RAPGEF6	51735	broad.mit.edu	37	chr5	130766686	130766687	+	Frame_Shift_Ins	INS	-	-	AA													aactgtcccatagtttggttINScatacgtgtcagacagagaa							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:130766686_130766687insAA	ENST00000507093.1	-	27	4535_4536	c.4354_4355insTT	c.(4354-4356)gaafs	p.E1452fs	RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.E1452fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.E1457fs|FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.E1494fs|RAPGEF6_ENST00000509018.1_Frame_Shift_Ins_p.E1444fs	NM_001164388.1	NP_001157860.1	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1444			Q -> R (in dbSNP:rs1291602).		Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATAGTTTGGTTCATACGTGTCA	0.47													False	0	False	5:130766686	0	AA	130766687	-	AA	130766686	7	5	43	1	0	1	1	0	0	0	0	0	13127	1783	62	0	486	0	RAPGEF6	5	130766686	Frame_Shift_Ins	INS	-	TCGA-FB-AAPU-01A-31D-A40W-08	6781927	130766686	50148574	48	3488	36	2									
RAPGEF6	51735	broad.mit.edu	37	chr5	130766688	130766689	+	In_Frame_Ins	INS	-	-	CTGCTGCACATATCCATTCACAGT													ctgtcccatagtttggttcaINStacgtgtcagacagagaact							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:130766688_130766689insCTGCTGCACATATCCATTCACAGT	ENST00000507093.1	-	27	4533_4534	c.4352_4353insACTGTGAATGGATATGTGCAGCAG	c.(4351-4353)tat>taACTGTGAATGGATATGTGCAGCAGt	p.1451_1451Y>*L*MDMCSS	RAPGEF6_ENST00000296859.6_In_Frame_Ins_p.1451_1451Y>*L*MDMCSS|RAPGEF6_ENST00000307984.5_In_Frame_Ins_p.1456_1456Y>*L*MDMCSS|FNIP1_ENST00000514667.1_In_Frame_Ins_p.1493_1493Y>*L*MDMCSS|RAPGEF6_ENST00000509018.1_In_Frame_Ins_p.1443_1443Y>*L*MDMCSS	NM_001164388.1	NP_001157860.1	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1443					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGTTTGGTTCATACGTGTCAGA	0.48													False	0	False	5:130766688	0	CTGCTGCACATATCCATTCACAGT	130766689	-	CTGCTGCACATATCCATTCACAGT	130766688	7	5	43	1	0	1	1	0	0	0	0	0	13127	224	8	0	488	0	RAPGEF6	5	130766688	In_Frame_Ins	INS	-	TCGA-FB-AAPU-01A-31D-A40W-08	2	130766688	50148572	49	3489	36	2									
PCDHB15	0	broad.mit.edu	37	chr5	140626038	140626038	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttttgagctaagcagccttTcaggagaaattcgactaatt	8	8	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:140626038T>A	ENST00000231173.3	+	1	892	c.892T>A	c.(892-894)Tca>Aca	p.S298T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		298	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCAGCCTTTCAGGAGAAAT	0.403													False	0	True	5:140626038	0	A	140626038	T	A	140626038	3	1	43	1	0	0	0	0	1	0	0	0	11608	1783	62	5	894	5	PCDHB15	5	140626038	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	9859350	140626038	40289222	50	3490											
PCDHGA10	0	broad.mit.edu	37	chr5	140793564	140793564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacagccaccgacagggaCgaaggtgccaatggagaagt	14	10	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:140793564C>T	ENST00000398610.2	+	1	822	c.822C>T	c.(820-822)gaC>gaT	p.D274D	PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGACAGGGACGAAGGTGCCA	0.458													False	0	False	5:140793564	0	T	140793564	C	T	140793564	2	4	43	1	0	0	0	0	0	0	0	1	11619	535	19	1		1	PCDHGA10	5	140793564	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	167526	140793564	40121696	51	3491											
JAKMIP2	9832	broad.mit.edu	37	chr5	147040819	147040819	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctctggatctctccatcacGtaccttcaccgtccttgaca	5	17	4	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:147040819G>C	ENST00000265272.5	-	3	786	c.319C>G	c.(319-321)Cgt>Ggt	p.R107G	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R107G|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R65G	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	107						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCATCACGTACCTTCACC	0.557													False	0	False	5:147040819	0	C	147040819	G	C	147040819	3	2	43	1	0	0	0	0	1	0	0	0	7991	1145	40	5	2189	5	JAKMIP2	5	147040819	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	6247255	147040819	33874441	52	3492											
ADRB2	154	broad.mit.edu	37	chr5	148206693	148206693	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tattcttatgaaaatgtggaCttttggcaacttctggtgcg	10	6	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:148206693C>G	ENST00000305988.4	+	1	538	c.299C>G	c.(298-300)aCt>aGt	p.T100S		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	100					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	AAAATGTGGACTTTTGGCAAC	0.527													False	0	True	5:148206693	0	G	148206693	C	G	148206693	3	3	43	1	0	0	0	0	1	0	0	0	341	565	20	5	301	5	ADRB2	5	148206693	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	1165874	148206693	32708567	53	3493											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	43	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-FB-AAPU-01A-31D-A40W-08		7393450	163721617	54	3494											
RBM24	221662	broad.mit.edu	37	chr6	17292038	17292038	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttgtgcagccgggagtggtCattccacacgtccagccgac	12	13	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:17292038C>G	ENST00000379052.5	+	4	635	c.399C>G	c.(397-399)gtC>gtG	p.V133V	RBM24_ENST00000318204.5_Silent_p.V88V|RBM24_ENST00000425446.2_Silent_p.V75V|RBM24_ENST00000508508.1_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	133					cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CGGGAGTGGTCATTCCACACG	0.542													False	0	False	6:17292038	0	G	17292038	C	G	17292038	2	3	43	1	0	0	0	0	0	0	0	1	13203	813	29	5		5	RBM24	6	17292038	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	9898588	17292038	153823029	55	3495											
MRPS18B	28973	broad.mit.edu	37	chr6	30587358	30587359	+	In_Frame_Ins	INS	-	-	GAAATATCT													ccttataaggatgagccctgINSgaaatatctggaatcagaag							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:30587358_30587359insGAAATATCT	ENST00000259873.4	+	2	324_325	c.167_168insGAAATATCT	c.(166-171)tggaaa>tgGAAATATCTgaaa	p.57_58insYLK	MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_In_Frame_Ins_p.57_58insYLK	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	57					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GATGAGCCCTGGAAATATCTGG	0.49													False	1	True	6:30587358	0	GAAATATCT	30587359	-	GAAATATCT	30587358	7	5	43	1	0	1	1	0	0	0	0	0	9896	1357	47	0	173	0	MRPS18B	6	30587358	In_Frame_Ins	INS	-	TCGA-FB-AAPU-01A-31D-A40W-08	13295320	30587358	140527709	56	3496											
DAAM2	23500	broad.mit.edu	37	chr6	39866704	39866704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggaggggcctgagagcGgtggaggtggtgagtacctt	19	7	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:39866704G>A	ENST00000538976.1	+	22	2852	c.2670G>A	c.(2668-2670)gcG>gcA	p.A890A	DAAM2_ENST00000274867.4_Silent_p.A890A|DAAM2_ENST00000398904.2_Silent_p.A890A|RP11-61I13.3_ENST00000437947.1_RNA	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	890	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCCTGAGAGCGGTGGAGGTGG	0.577													False	0	False	6:39866704	0	A	39866704	G	A	39866704	2	1	43	1	0	0	0	0	0	0	0	1	4241	1103	39	1		1	DAAM2	6	39866704	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	9279346	39866704	131248363	57	3497											
KCNQ5	56479	broad.mit.edu	37	chr6	73834247	73834247	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcaagcaggtttgtgatttCtctcttgctacatgtttgtt	8	7	3	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:73834247C>A	ENST00000370392.1	+	9	1343	c.1259C>A	c.(1258-1260)tCt>tAt	p.S420Y	KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000403813.2_Intron|KCNQ5_ENST00000370398.1_Intron|KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000414165.2_Intron			Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	0					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTTGTGATTTCTCTCTTGCTA	0.358													False	0	True	6:73834247	0	A	73834247	C	A	73834247	3	1	43	1	0	0	0	0	1	0	0	0	8136	928	32	3		3	KCNQ5	6	73834247	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	33967543	73834247	97280820	58	3498											
KLHL32	114792	broad.mit.edu	37	chr6	97423967	97423967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagcagaggagtgatggcAtcctctgcgacatcaccctg	11	12	3	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:97423967A>G	ENST00000369261.4	+	3	481	c.118A>G	c.(118-120)Atc>Gtc	p.I40V	KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Missense_Mutation_p.I40V|KLHL32_ENST00000539200.1_Missense_Mutation_p.I40V	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	40										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GAGTGATGGCATCCTCTGCGA	0.507													False	0	False	6:97423967	0	G	97423967	A	G	97423967	3	3	43	1	0	0	0	0	1	0	0	0	8436	217	8	4	124	4	KLHL32	6	97423967	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	23589720	97423967	73691100	59	3499											
HACE1	57531	broad.mit.edu	37	chr6	105198307	105198307	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgatctgaggctgaatggctCttgtcattcgaagttcagta	11	7	4	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:105198307C>G	ENST00000262903.4	-	20	2528	c.2252G>C	c.(2251-2253)aGa>aCa	p.R751T	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.R536T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	751	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTGAATGGCTCTTGTCATTCG	0.368													False	0	False	6:105198307	0	G	105198307	C	G	105198307	3	3	43	1	0	0	0	0	1	0	0	0	6987	913	32	5	497	5	HACE1	6	105198307	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	7774340	105198307	65916760	60	3500											
THBS2	7058	broad.mit.edu	37	chr6	169639743	169639743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaaaggatggactggcGcaggttgcaggcgggcaggt	17	9	0	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:169639743G>A	ENST00000366787.3	-	8	1329	c.1080C>T	c.(1078-1080)tgC>tgT	p.C360C		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	360	VWFC.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ATGGACTGGCGCAGGTTGCAG	0.512													False	0	False	6:169639743	0	A	169639743	G	A	169639743	2	1	43	1	0	0	0	0	0	0	0	1	15936	1079	38	1		1	THBS2	6	169639743	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	64441436	169639743	1475324	61	3501											
SDK1	221935	broad.mit.edu	37	chr7	4247761	4247761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaggcagacagccagaacGaaacggagaaaatgaaggtc	15	7	0	4			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:4247761G>A	ENST00000404826.2	+	37	5384	c.5245G>A	c.(5245-5247)Gaa>Aaa	p.E1749K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1729K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1749	Fibronectin type-III 11.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGCCAGAACGAAACGGAGAA	0.552													False	0	True	7:4247761	0	A	4247761	G	A	4247761	3	1	43	1	0	0	0	0	1	0	0	0	14049	1059	37	1	5391	1	SDK1	7	4247761	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		4247761	154890902	62	3502											
CBX3	11335	broad.mit.edu	37	chr7	26246131	26246144	+	Splice_Site	DEL	GTAAGAAACTTTAG	GTAAGAAACTTTAG	-													aagtggaagggatttacagaGtaagaaactttagtgcatct							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	GTAAGAAACTTTAG	GTAAGAAACTTTAG	-	-	GTAAGAAACTTTAG	GTAAGAAACTTTAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:26246131_26246144delGTAAGAAACTTTAG	ENST00000337620.4	+	3	595		c.e3+1		CBX3_ENST00000409747.1_Splice_Site|CBX3_ENST00000497498.1_Splice_Site|CBX3_ENST00000396386.2_Splice_Site	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3						chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						GATTTACAGAGTAAGAAACTTTAGTGCATCTTTA	0.369													False	1	True	7:26246131	0	-	26246144	GTAAGAAACTTTAG	-	26246131	8	5	43	1	0	1	0	1	0	0	1	0	2739	1043	36	0	174	0	CBX3	7	26246131	Splice_Site	DEL	GTAAGAAACTTTAG	TCGA-FB-AAPU-01A-31D-A40W-08	21998370	26246131	132892532	63	3503											
PEG10	23089	broad.mit.edu	37	chr7	94293789	94293789	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcactacgctgacaaTtgtcctgccaaggcctcaaa	10	12	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:94293789T>A	ENST00000482108.1	+	2	1400	c.921T>A	c.(919-921)aaT>aaA	p.N307K	PEG10_ENST00000488574.1_Missense_Mutation_p.N307K	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	307					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACGCTGACAATTGTCCTGCCA	0.582													False	0	False	7:94293789	0	A	94293789	T	A	94293789	3	1	43	1	0	0	0	0	1	0	0	0	11787	1490	52	5	1155	5	PEG10	7	94293789	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	68047658	94293789	64844874	64	3504											
GIMAP1	170575	broad.mit.edu	37	chr7	150417597	150417597	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgattacgtgagcaacAcagagaaccgggccttgcgc	12	12	0	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:150417597A>C	ENST00000307194.5	+	3	645	c.505A>C	c.(505-507)Aca>Cca	p.T169P		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTGAGCAACACAGAGAACCG	0.647													False	0	False	7:150417597	0	C	150417597	A	C	150417597	3	2	43	1	0	0	0	0	1	0	0	0	6424	159	6	4	511	4	GIMAP1	7	150417597	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	56123808	150417597	8721066	65	3505											
NOS3	4846	broad.mit.edu	37	chr7	150699033	150699033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctggggagactcttcCggaaggcttttgatccccgg	14	11	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:150699033C>T	ENST00000297494.3	+	13	1984	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	NOS3_ENST00000467517.1_Missense_Mutation_p.R543W|NOS3_ENST00000461406.1_Missense_Mutation_p.R337W|NOS3_ENST00000484524.1_Missense_Mutation_p.R543W	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	543	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GAGACTCTTCCGGAAGGCTTT	0.632													False	0	False	7:150699033	0	T	150699033	C	T	150699033	3	4	43	1	0	0	0	0	1	0	0	0	10612	643	23	1	1673	1	NOS3	7	150699033	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	281436	150699033	8439630	66	3506											
ADRA1A	148	broad.mit.edu	37	chr8	26722090	26722090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacgatggttgggtagcGcagcgggtagctcacgccga	18	9	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:26722090G>A	ENST00000380573.3	-	2	1420	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	ADRA1A_ENST00000380587.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380572.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000358857.5_Missense_Mutation_p.R133C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000519229.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000380581.2_Missense_Mutation_p.R133C			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	133					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GTTGGGTAGCGCAGCGGGTAG	0.617													False	0	False	8:26722090	0	A	26722090	G	A	26722090	3	1	43	1	0	0	0	0	1	0	0	0	334	1087	38	1	1302	1	ADRA1A	8	26722090	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		26722090	119641932	67	3507											
EXTL3	2137	broad.mit.edu	37	chr8	28575489	28575489	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagggactggctttcggcCtattggtggtggagctgggg	18	8	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:28575489C>A	ENST00000220562.4	+	3	2815	c.1913C>A	c.(1912-1914)cCt>cAt	p.P638H	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.P254H	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	638						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGCTTTCGGCCTATTGGTGGT	0.557													False	0	False	8:28575489	0	A	28575489	C	A	28575489	3	1	43	1	0	0	0	0	1	0	0	0	5360	681	24	3	1915	3	EXTL3	8	28575489	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	1853399	28575489	117788533	68	3508											
INTS9	55756	broad.mit.edu	37	chr8	28717081	28717081	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgccctgacaggcaataCtgaaaaaaattaaatcactt	8	8	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:28717081C>A	ENST00000416984.2	-	2	369		c.e2-1		INTS9_ENST00000521777.1_Splice_Site|INTS9_ENST00000397363.4_Intron|INTS9_ENST00000521022.1_Splice_Site	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9						snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		ACAGGCAATACTGAAAAAAAT	0.383													False	0	False	8:28717081	0	A	28717081	C	A	28717081	5	1	43	1	0	0	0	0	0	0	1	0	7835	579	20	3	2031	3	INTS9	8	28717081	Splice_Site	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	141592	28717081	117646941	69	3509											
KCNQ3	3786	broad.mit.edu	37	chr8	133184899	133184899	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtgcttctgacggtgTtgctcctgcaccttgagggc	12	11	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:133184899T>A	ENST00000388996.4	-	7	1506	c.1086A>T	c.(1084-1086)caA>caT	p.Q362H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.Q242H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.Q362H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	362					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCTGACGGTGTTGCTCCTGCA	0.587													False	0	False	8:133184899	0	A	133184899	T	A	133184899	3	1	43	1	0	0	0	0	1	0	0	0	8134	1722	60	5	1568	5	KCNQ3	8	133184899	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	104467818	133184899	13179123	70	3510											
CCIN	881	broad.mit.edu	37	chr9	36170825	36170825	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggttatatctcccgggtCggggtagtggactgctttga	14	7	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36170825C>T	ENST00000335119.2	+	1	1437	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	442					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCTCCCGGGTCGGGGTAGTGG	0.552													False	0	True	9:36170825	0	T	36170825	C	T	36170825	2	4	43	1	0	0	0	0	0	0	0	1	2899	871	31	1		1	CCIN	9	36170825	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08		36170825	105042606	71	3511											
RNF38	152006	broad.mit.edu	37	chr9	36351123	36351123	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctactaacctcgtaattttCtacttctccatcttctacat	1	13	5	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36351123C>G	ENST00000357058.3	-	9	1609	c.1003G>C	c.(1003-1005)Gaa>Caa	p.E335Q	RNF38_ENST00000353739.4_Missense_Mutation_p.E368Q|RNF38_ENST00000350199.4_Missense_Mutation_p.E335Q|RNF38_ENST00000377877.4_Missense_Mutation_p.E342Q|RNF38_ENST00000377885.2_Missense_Mutation_p.E335Q|RNF38_ENST00000259605.6_Missense_Mutation_p.E418Q	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	418	Pro-rich.						zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			TCGTAATTTTCTACTTCTCCA	0.378													False	0	True	9:36351123	0	G	36351123	C	G	36351123	3	3	43	1	0	0	0	0	1	0	0	0	13569	922	32	5	311	5	RNF38	9	36351123	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	180298	36351123	104862308	72	3512											
RNF38	152006	broad.mit.edu	37	chr9	36351150	36351150	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccatcttctacatctaattCaaagctgaaagttgggccca	6	11	4	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36351150C>T	ENST00000357058.3	-	9	1582	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	RNF38_ENST00000353739.4_Missense_Mutation_p.E359K|RNF38_ENST00000350199.4_Missense_Mutation_p.E326K|RNF38_ENST00000377877.4_Missense_Mutation_p.E333K|RNF38_ENST00000377885.2_Missense_Mutation_p.E326K|RNF38_ENST00000259605.6_Missense_Mutation_p.E409K	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	409	Pro-rich.						zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACATCTAATTCAAAGCTGAAA	0.358													False	0	True	9:36351150	0	T	36351150	C	T	36351150	3	4	43	1	0	0	0	0	1	0	0	0	13569	835	29	2	338	2	RNF38	9	36351150	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	27	36351150	104862281	73	3513											
PCSK5	5125	broad.mit.edu	37	chr9	78686787	78686787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccagcccccctcacccgGcaagcctttgaaaacggcgt	10	17	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:78686787G>A	ENST00000545128.1	+	7	1405	c.867G>A	c.(865-867)cgG>cgA	p.R289R	PCSK5_ENST00000376752.4_Silent_p.R289R|PCSK5_ENST00000376767.3_Silent_p.R289R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	289	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCTCACCCGGCAAGCCTTTG	0.507													False	0	False	9:78686787	0	A	78686787	G	A	78686787	2	1	43	1	0	0	0	0	0	0	0	1	11671	1190	42	2		2	PCSK5	9	78686787	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	42335637	78686787	62526644	74	3514											
TEX10	54881	broad.mit.edu	37	chr9	103090198	103090198	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggagccaagatgagcaagttGcaatggtaagccagccagcc	13	10	0	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:103090198G>C	ENST00000374902.4	-	8	1848	c.1672C>G	c.(1672-1674)Caa>Gaa	p.Q558E	TEX10_ENST00000535814.1_Missense_Mutation_p.Q561E	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	558						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGAGCAAGTTGCAATGGTAAG	0.398													False	0	False	9:103090198	0	C	103090198	G	C	103090198	3	2	43	1	0	0	0	0	1	0	0	0	15854	1328	46	5	1149	5	TEX10	9	103090198	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	24403411	103090198	38123233	75	3515											
ABCA1	19	broad.mit.edu	37	chr9	107591266	107591282	+	Frame_Shift_Del	DEL	CCAGAGGATGCTGTTGT	CCAGAGGATGCTGTTGT	-													ctactaatgaaccagctaaaCcagaggatgctgttgtccag					rs144845639	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	CCAGAGGATGCTGTTGT	CCAGAGGATGCTGTTGT	-	-	CCAGAGGATGCTGTTGT	CCAGAGGATGCTGTTGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:107591266_107591282delCCAGAGGATGCTGTTGT	ENST00000374736.3	-	15	2424_2440	c.2030_2046delACAACAGCATCCTCTGG	c.(2029-2046)gacaacagcatcctctggfs	p.DNSILW677fs	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	677					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACCAGCTAAACCAGAGGATGCTGTTGTCCAGGCCCAT	0.539													False	1	False	9:107591266	0	-	107591282	CCAGAGGATGCTGTTGT	-	107591266	7	5	43	1	0	1	0	1	0	0	0	0	28	508	18	0	4883	0	ABCA1	9	107591266	Frame_Shift_Del	DEL	CCAGAGGATGCTGTTGT	TCGA-FB-AAPU-01A-31D-A40W-08	4501068	107591266	33622165	76	3516											
EPB41L4B	54566	broad.mit.edu	37	chr9	111970268	111970268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttacacttcacatgatccGcaacaggggaaggcaaaagt	10	9	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:111970268G>A	ENST00000374566.3	-	18	2331	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	605						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACATGATCCGCAACAGGGGA	0.423													False	0	False	9:111970268	0	A	111970268	G	A	111970268	3	1	43	1	0	0	0	0	1	0	0	0	5188	1087	38	1	924	1	EPB41L4B	9	111970268	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	4379002	111970268	29243163	77	3517											
AMBP	259	broad.mit.edu	37	chr9	116837247	116837247	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccactccacttactggatttGtgatagagaaacttcccatc	6	12	0	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:116837247G>C	ENST00000265132.3	-	3	592	c.330C>G	c.(328-330)caC>caG	p.H110Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	110					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TACTGGATTTGTGATAGAGAA	0.438													False	0	True	9:116837247	0	C	116837247	G	C	116837247	3	2	43	1	0	0	0	0	1	0	0	0	564	1368	48	5	760	5	AMBP	9	116837247	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	4866979	116837247	24376184	78	3518											
ASTN2	23245	broad.mit.edu	37	chr9	120053699	120053699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgggccagctgcccggagCtgctcatggagacgtggaag	16	11	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:120053699C>A	ENST00000313400.4	-	2	636	c.536G>T	c.(535-537)aGc>aTc	p.S179I	ASTN2_ENST00000373996.3_Missense_Mutation_p.S179I|ASTN2_ENST00000361209.2_Missense_Mutation_p.S179I|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	179						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTGCCCGGAGCTGCTCATGGA	0.592													False	0	False	9:120053699	0	A	120053699	C	A	120053699	3	1	43	1	0	0	0	0	1	0	0	0	1069	797	28	3	3646	3	ASTN2	9	120053699	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	3216452	120053699	21159732	79	3519											
OR56A3	390083	broad.mit.edu	37	chr11	5969013	5969013	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catcactgatcactttgtagTcaaggctgccatgtttattt	7	9	3	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:5969013T>A	ENST00000329564.6	+	1	444	c.437T>A	c.(436-438)gTc>gAc	p.V146D		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTTTGTAGTCAAGGCTGCC	0.448													False	0	False	11:5969013	0	A	5969013	T	A	5969013	3	1	43	1	0	0	0	0	1	0	0	0	11202	1667	58	5	439	5	OR56A3	11	5969013	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08		5969013	129037503	80	3520											
PRKCDBP	112464	broad.mit.edu	37	chr11	6340448	6340448	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggcagccccaggtctcccgGgatcttcctcggtgtcctgc	12	17	2	0	rs144277485		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:6340448G>C	ENST00000303927.3	-	2	901	c.731C>G	c.(730-732)cCc>cGc	p.P244R	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.P276R	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	244										large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTCTCCCGGGATCTTCCTC	0.667													False	0	True	11:6340448	0	C	6340448	G	C	6340448	3	2	43	1	0	0	0	0	1	0	0	0	12586	1232	43	5	58	5	PRKCDBP	11	6340448	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	371435	6340448	128666068	81	3521											
EIF3F	8665	broad.mit.edu	37	chr11	8014505	8014505	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacagccgagaggcccccaAccccatccacctcactgtgg	8	19	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:8014505A>C	ENST00000533626.1	+	6	1213	c.587A>C	c.(586-588)aAc>aCc	p.N196T	EIF3F_ENST00000309828.4_Missense_Mutation_p.N196T|EIF3F_ENST00000449102.2_Missense_Mutation_p.N47T|EIF3F_ENST00000537635.1_Missense_Mutation_p.N211T			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	196	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGGCCCCCAACCCCATCCAC	0.557													False	0	True	11:8014505	0	C	8014505	A	C	8014505	3	2	43	1	0	0	0	0	1	0	0	0	5048	43	2	4	601	4	EIF3F	11	8014505	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	1674057	8014505	126992011	82	3522											
AMPD3	272	broad.mit.edu	37	chr11	10500085	10500085	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gctcttagaaagaaaagtttCaagatgattcggtcccagtc	9	8	2	4			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:10500085C>G	ENST00000396554.3	+	3	602	c.261C>G	c.(259-261)ttC>ttG	p.F87L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	78					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGAAAAGTTTCAAGATGATTC	0.537													False	0	True	11:10500085	0	G	10500085	C	G	10500085	3	3	43	1	0	0	0	0	1	0	0	0	587	825	29	5	291	5	AMPD3	11	10500085	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	2485580	10500085	124506431	83	3523											
KCNC1	3746	broad.mit.edu	37	chr11	17794037	17794037	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atattccgcggccaccgcagCtgggatctcccaattattgt	9	13	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:17794037C>A	ENST00000379472.3	+	2	1426	c.1396C>A	c.(1396-1398)Ctg>Atg	p.L466M	KCNC1_ENST00000265969.6_Missense_Mutation_p.L466M	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	466						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCCACCGCAGCTGGGATCTCC	0.448													False	0	False	11:17794037	0	A	17794037	C	A	17794037	3	1	43	1	0	0	0	0	1	0	0	0	8064	796	28	3	1402	3	KCNC1	11	17794037	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	7293952	17794037	117212479	84	3524											
PC	5091	broad.mit.edu	37	chr11	66638342	66638342	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagagcctctgagtaggcccGggtgtaattctcctccagct	11	13	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:66638342G>C	ENST00000393960.1	-	8	936	c.655C>G	c.(655-657)Cgg>Ggg	p.R219G	PC_ENST00000524491.1_Missense_Mutation_p.R179G|PC_ENST00000393958.2_Missense_Mutation_p.R219G|PC_ENST00000355677.3_Missense_Mutation_p.R219G|PC_ENST00000393955.2_Missense_Mutation_p.R219G	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	219	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GAGTAGGCCCGGGTGTAATTC	0.622													False	0	True	11:66638342	0	C	66638342	G	C	66638342	3	2	43	1	0	0	0	0	1	0	0	0	11565	1115	39	5	2945	5	PC	11	66638342	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	48844305	66638342	68368174	85	3525											
UCP3	7352	broad.mit.edu	37	chr11	73718034	73718034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctgctgtgcctgccccCaggaacttcacagccatggt	11	15	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:73718034C>T	ENST00000314032.4	-	2	606	c.54G>A	c.(52-54)ctG>ctA	p.L18L	UCP3_ENST00000426995.2_Silent_p.L18L|UCP3_ENST00000348534.4_Silent_p.L18L	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	18					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TGCCTGCCCCCAGGAACTTCA	0.597													False	0	True	11:73718034	0	T	73718034	C	T	73718034	2	4	43	1	0	0	0	0	0	0	0	1	17016	581	21	2		2	UCP3	11	73718034	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	7079692	73718034	61288482	86	3526											
BIRC2	329	broad.mit.edu	37	chr11	102221640	102221640	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggtgttgggaatctggagatGatccatgggtagaacatgcc	15	6	1	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:102221640G>C	ENST00000227758.2	+	3	2360	c.961G>C	c.(961-963)Gat>Cat	p.D321H	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.D272H|BIRC2_ENST00000532672.1_Missense_Mutation_p.D300H	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	321					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATCTGGAGATGATCCATGGGT	0.383													False	0	False	11:102221640	0	C	102221640	G	C	102221640	3	2	43	1	0	0	0	0	1	0	0	0	1440	1290	45	5	967	5	BIRC2	11	102221640	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	28503606	102221640	32784876	87	3527											
RAD52	5893	broad.mit.edu	37	chr12	1023204	1023204	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcagaggtctgggctgGgtctgctctagacgagggct	17	8	4	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:1023204G>C	ENST00000358495.3	-	11	1189	c.1051C>G	c.(1051-1053)Cca>Gca	p.P351A	RAD52_ENST00000430095.2_Missense_Mutation_p.P351A|RAD52_ENST00000539046.1_Missense_Mutation_p.P274A|RAD52_ENST00000535376.1_5'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	351					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GTCTGGGCTGGGTCTGCTCTA	0.527								Homologous recombination					False	0	True	12:1023204	0	C	1023204	G	C	1023204	3	2	43	1	0	0	0	0	1	0	0	0	13070	1232	43	5	213	5	RAD52	12	1023204	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		1023204	132828691	88	3528											
TULP3	7289	broad.mit.edu	37	chr12	3042674	3042674	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgatttatctcgtgaaggaGaaagttatgtcggcaagctt	11	5	1	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:3042674G>A	ENST00000448120.2	+	7	838	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	TULP3_ENST00000397132.2_Missense_Mutation_p.E263K	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	263					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCGTGAAGGAGAAAGTTATGT	0.398													False	0	True	12:3042674	0	A	3042674	G	A	3042674	3	1	43	1	0	0	0	0	1	0	0	0	16859	943	33	2	813	2	TULP3	12	3042674	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	2019470	3042674	130809221	89	3529											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	43	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	22355611	25398285	108453610	90	3530											
PTPRB	0	broad.mit.edu	37	chr12	71029558	71029558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaccactactctggagCcttgtttctggagaaagaga	10	9	3	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:71029558C>T	ENST00000334414.6	-	2	388	c.344G>A	c.(343-345)gGc>gAc	p.G115D	PTPRB_ENST00000551525.1_Missense_Mutation_p.G114D|PTPRB_ENST00000550358.1_Missense_Mutation_p.G115D|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TACTCTGGAGCCTTGTTTCTG	0.493													False	0	False	12:71029558	0	T	71029558	C	T	71029558	3	4	43	1	0	0	0	0	1	0	0	0	12875	739	26	2	6493	2	PTPRB	12	71029558	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	45631273	71029558	62822337	91	3531											
CABP1	9478	broad.mit.edu	37	chr12	121098645	121098645	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgagatgctttccgagaggTaacggacagaggcaggcagg	17	8	0	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:121098645T>C	ENST00000453000.1	+	4	1259		c.e4+2		CABP1_ENST00000288616.3_Splice_Site|CABP1_ENST00000351200.2_Splice_Site|CABP1_ENST00000316803.3_Splice_Site			Q9NZU7	CABP1_HUMAN	calcium binding protein 1							cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCCGAGAGGTAACGGACAGA	0.498													False	0	False	12:121098645	0	C	121098645	T	C	121098645	5	2	43	1	0	0	0	0	0	0	1	0	2551	1652	57	4	1188	4	CABP1	12	121098645	Splice_Site	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	50069087	121098645	12753250	92	3532											
OXGR1	27199	broad.mit.edu	37	chr13	97639242	97639242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgaatgaccctcaagatatGgaagggtaaaaaacatacgt	9	8	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr13:97639242G>T	ENST00000298440.1	-	4	1015	c.772C>A	c.(772-774)Cat>Aat	p.H258N	OXGR1_ENST00000543457.1_Missense_Mutation_p.H258N	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	258						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			CTCAAGATATGGAAGGGTAAA	0.438													False	0	False	13:97639242	0	T	97639242	G	T	97639242	3	4	43	1	0	0	0	0	1	0	0	0	11400	1348	47	3	245	3	OXGR1	13	97639242	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		97639242	17530636	93	3533											
POTEG	404785	broad.mit.edu	37	chr14	19566012	19566012	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattacaattttatacatagAatttgccagttactttctga	4	6	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:19566012A>C	ENST00000409832.3	+	6	1108	c.1056A>C	c.(1054-1056)gtA>gtC	p.V352V	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	352										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTATACATAGAATTTGCCAGT	0.269													False	0	False	14:19566012	0	C	19566012	A	C	19566012	5	2	43	1	0	0	0	0	0	0	1	0	12335	260	9	4	1078	4	POTEG	14	19566012	Splice_Site	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08		19566012	87783528	94	3534											
MAP4K5	11183	broad.mit.edu	37	chr14	50911762	50911762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataatgctagccataccaaTagaagaagtctctgccacag	7	10	1	2	rs55815015	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:50911762T>C	ENST00000013125.4	-	18	1654	c.1336A>G	c.(1336-1338)Att>Gtt	p.I446V		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	446			I -> V (in dbSNP:rs55815015).		activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					GCCATACCAATAGAAGAAGTC	0.413													False	0	False	14:50911762	0	C	50911762	T	C	50911762	3	2	43	1	0	0	0	0	1	0	0	0	9330	1406	49	4	1264	4	MAP4K5	14	50911762	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	31345750	50911762	56437778	95	3535											
BDKRB2	0	broad.mit.edu	37	chr14	96703485	96703485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaatgtttctgtctgttcGtgaggactccgtgcccacca	9	12	3	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:96703485G>A	ENST00000306005.3	+	2	237	c.41G>A	c.(40-42)cGt>cAt	p.R14H	BDKRB2_ENST00000539359.1_5'UTR|BDKRB2_ENST00000542454.2_5'UTR|RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.R14H|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R14H	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	14			R -> C (in dbSNP:rs1046248).		arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CTGTCTGTTCGTGAGGACTCC	0.527													False	0	False	14:96703485	0	A	96703485	G	A	96703485	3	1	43	1	0	0	0	0	1	0	0	0	1397	1145	40	1	43	1	BDKRB2	14	96703485	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	45791723	96703485	10646055	96	3536											
CPEB1	64506	broad.mit.edu	37	chr15	83215935	83215935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgatctccacaaaagcagcGctgactgctttcaggtaact	8	11	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:83215935G>T	ENST00000563800.1	-	10	3258	c.1533C>A	c.(1531-1533)agC>agA	p.S511R	CPEB1_ENST00000261723.6_Missense_Mutation_p.S487R|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.S409R|CPEB1_ENST00000562019.1_Missense_Mutation_p.S489R|CPEB1_ENST00000398591.2_Missense_Mutation_p.S414R|CPEB1_ENST00000564522.1_Missense_Mutation_p.S409R|CPEB1_ENST00000568128.1_Missense_Mutation_p.S484R|CPEB1_ENST00000450751.2_Missense_Mutation_p.S409R|CPEB1_ENST00000423133.2_Missense_Mutation_p.S409R|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.A219E|CPEB1_ENST00000398592.2_Missense_Mutation_p.S258R			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	489	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAAAAGCAGCGCTGACTGCTT	0.463													False	0	False	15:83215935	0	T	83215935	G	T	83215935	3	4	43	1	0	0	0	0	1	0	0	0	3823	1078	38	3	245	3	CPEB1	15	83215935	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		83215935	19315457	97	3537											
CDH8	1006	broad.mit.edu	37	chr16	62055298	62055298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagagcatttccgctagccGttctggcatggtcccaccag	10	14	1	1	rs139797882		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr16:62055298G>A	ENST00000577390.1	-	2	964	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	CDH8_ENST00000299345.6_Missense_Mutation_p.R4W|CDH8_ENST00000577730.1_Missense_Mutation_p.R4W|CDH8_ENST00000584337.1_Missense_Mutation_p.R4W	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	4					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCCGCTAGCCGTTCTGGCATG	0.443													False	0	False	16:62055298	0	A	62055298	G	A	62055298	3	1	43	1	0	0	0	0	1	0	0	0	3139	1144	40	1	2433	1	CDH8	16	62055298	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		62055298	28299455	98	3538											
MEOX1	4222	broad.mit.edu	37	chr17	41738449	41738449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacctgaactctcctttcTccgcctggatgatttcttct	5	15	4	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:41738449T>C	ENST00000318579.4	-	1	873	c.454A>G	c.(454-456)Aga>Gga	p.R152G	MEOX1_ENST00000549132.1_Silent_p.G122G|MEOX1_ENST00000393661.2_Missense_Mutation_p.R37G|MEOX1_ENST00000329168.3_Missense_Mutation_p.R152G	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	152						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CTCTCCTTTCTCCGCCTGGAT	0.572													False	0	False	17:41738449	0	C	41738449	T	C	41738449	3	2	43	1	0	0	0	0	1	0	0	0	9540	1559	54	4	322	4	MEOX1	17	41738449	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08		41738449	39456761	99	3539											
B4GALNT2	124872	broad.mit.edu	37	chr17	47230177	47230177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagaagggctgccccgCccactgcccctgctggtcca	12	17	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:47230177C>T	ENST00000300404.2	+	4	608	c.549C>T	c.(547-549)cgC>cgT	p.R183R	B4GALNT2_ENST00000504681.1_Silent_p.R97R|B4GALNT2_ENST00000393354.2_Silent_p.R123R	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	183					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GGCTGCCCCGCCCACTGCCCC	0.617													False	0	True	17:47230177	0	T	47230177	C	T	47230177	2	4	43	1	0	0	0	0	0	0	0	1	1271	726	26	2		2	B4GALNT2	17	47230177	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	5491728	47230177	33965033	100	3540											
HELZ	9931	broad.mit.edu	37	chr17	65163782	65163782	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccagtcgtccagccaaagTatcttcagaaagtgtttcag	8	11	3	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:65163782T>A	ENST00000358691.5	-	14	1727	c.1561A>T	c.(1561-1563)Act>Tct	p.T521S	HELZ_ENST00000580168.1_Missense_Mutation_p.T521S	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCAGCCAAAGTATCTTCAGAA	0.433													False	0	False	17:65163782	0	A	65163782	T	A	65163782	3	1	43	1	0	0	0	0	1	0	0	0	7096	1638	57	5	4347	5	HELZ	17	65163782	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	17933605	65163782	16031428	101	3541											
WIPI1	55062	broad.mit.edu	37	chr17	66430712	66430712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaccttttcatccctctcCggaactcatagagcttttgc	6	14	3	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:66430712C>A	ENST00000262139.5	-	7	676	c.677G>T	c.(676-678)cGg>cTg	p.R226L	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.R144L	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	226					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CATCCCTCTCCGGAACTCATA	0.512													False	0	False	17:66430712	0	A	66430712	C	A	66430712	3	1	43	1	0	0	0	0	1	0	0	0	17454	652	23	3	691	3	WIPI1	17	66430712	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	1266930	66430712	14764498	102	3542			1	6		2	2	23	C		9.593584e-05
WIPI1	55062	broad.mit.edu	37	chr17	66430734	66430734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaactcatagagcttttgccCatcagggacagagaacaccc	9	12	2	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:66430734C>A	ENST00000262139.5	-	7	654	c.655G>T	c.(655-657)Ggg>Tgg	p.G219W	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.G137W	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	219					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						AGCTTTTGCCCATCAGGGACA	0.498													False	0	True	17:66430734	0	A	66430734	C	A	66430734	3	1	43	1	0	0	0	0	1	0	0	0	17454	594	21	3	713	3	WIPI1	17	66430734	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	22	66430734	14764476	103	3543			1	6		2	2	23	C		9.593584e-05
KIAA0195	9772	broad.mit.edu	37	chr17	73488859	73488859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcctctgcgagcttgCccgcctcattggtacaggtc	13	14	2	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:73488859C>T	ENST00000314256.7	+	15	2295	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	KIAA0195_ENST00000579208.1_Missense_Mutation_p.A285V|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A644V	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	634					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCGAGCTTGCCCGCCTCATT	0.647													False	0	True	17:73488859	0	T	73488859	C	T	73488859	3	4	43	1	0	0	0	0	1	0	0	0	8210	739	26	2	1955	2	KIAA0195	17	73488859	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	7058125	73488859	7706351	104	3544											
TNRC6C	57690	broad.mit.edu	37	chr17	76047129	76047153	+	Frame_Shift_Del	DEL	CCCCCAACAGAACTGGGCTAGCAAA	CCCCCAACAGAACTGGGCTAGCAAA	-													ggggagactttaaaacctggCccccaacagaactgggctag					rs114241857	by1000genomes	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	CCCCCAACAGAACTGGGCTAGCAAA	CCCCCAACAGAACTGGGCTAGCAAA	-	-	CCCCCAACAGAACTGGGCTAGCAAA	CCCCCAACAGAACTGGGCTAGCAAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:76047129_76047153delCCCCCAACAGAACTGGGCTAGCAAA	ENST00000588847.1	+	5	2713_2737	c.1986_2010delCCCCCAACAGAACTGGGCTAGCAAA	c.(1984-2010)ggcccccaacagaactgggctagcaaafs	p.GPQQNWASK662fs	TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.GPQQNWASK662fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	662	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TAAAACCTGGCCCCCAACAGAACTGGGCTAGCAAACCCCAAGACA	0.538													False	1	False	17:76047129	0	-	76047153	CCCCCAACAGAACTGGGCTAGCAAA	-	76047129	7	5	43	1	0	1	0	1	0	0	0	0	16424	726	26	0	1988	0	TNRC6C	17	76047129	Frame_Shift_Del	DEL	CCCCCAACAGAACTGGGCTAGCAAA	TCGA-FB-AAPU-01A-31D-A40W-08	2558270	76047129	5148081	105	3545											
RNF125	54941	broad.mit.edu	37	chr18	29622203	29622203	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaagtacatagataagtatgGaccactacaagaacttgagg	10	6	0	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr18:29622203G>C	ENST00000217740.3	+	3	872	c.380G>C	c.(379-381)gGa>gCa	p.G127A	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	127					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GATAAGTATGGACCACTACAA	0.328													False	0	False	18:29622203	0	C	29622203	G	C	29622203	3	2	43	1	0	0	0	0	1	0	0	0	13513	1174	41	5	390	5	RNF125	18	29622203	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		29622203	48455045	106	3546											
ARID3A	1820	broad.mit.edu	37	chr19	971935	971936	+	Frame_Shift_Del	DEL	GC	GC	-													ctctgctcccaacaaaggagGcggcggcggcggcggcagca					rs138086881	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:971935_971936delGC	ENST00000263620.3	+	9	1979_1980	c.1652_1653delGC	c.(1651-1653)ggcfs	p.G556fs		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	556	Gly-rich.|Important for cytoplasmic localization (By similarity).		G -> S (in dbSNP:rs1051505).			cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAAAGGAggcggcggcggcg	0.653													False	1	True	19:971935	0	-	971936	GC	-	971935	7	5	43	1	0	1	0	1	0	0	0	0	918	1203	42	0	1682	0	ARID3A	19	971935	Frame_Shift_Del	DEL	GC	TCGA-FB-AAPU-01A-31D-A40W-08		971935	58157048	107	3547											
HDGFRP2	0	broad.mit.edu	37	chr19	4501203	4501203	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccctctgtcccacccagAtctctcagccccagtgaatg	7	18	3	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:4501203A>G	ENST00000301284.4	+	15	1869	c.1805A>G	c.(1804-1806)gAt>gGt	p.D602G	HDGFRP2_ENST00000586684.1_Splice_Site_p.D602G	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		597					transcription, DNA-dependent	nucleus	DNA binding|protein binding										TCCCACCCAGATCTCTCAGCC	0.657													False	0	True	19:4501203	0	G	4501203	A	G	4501203	5	3	43	1	0	0	0	0	0	0	1	0	7067	347	12	4	1852	4	HDGFRP2	19	4501203	Splice_Site	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	3529268	4501203	54627780	108	3548											
CARM1	10498	broad.mit.edu	37	chr19	11022882	11022882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttcttgatgttggctgtgGctctgggatcctgtcgtttt	13	8	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:11022882G>A	ENST00000327064.4	+	5	771	c.581G>A	c.(580-582)gGc>gAc	p.G194D	CARM1_ENST00000344150.4_Missense_Mutation_p.G194D	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	194					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GTTGGCTGTGGCTCTGGGATC	0.592													False	0	False	19:11022882	0	A	11022882	G	A	11022882	3	1	43	1	0	0	0	0	1	0	0	0	2675	1203	42	2	599	2	CARM1	19	11022882	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	6521679	11022882	48106101	109	3549											
AKAP8	10270	broad.mit.edu	37	chr19	15483674	15483674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcttacccgatcccgatcCcgcatccgaggctgcgagcg	13	16	0	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:15483674C>T	ENST00000269701.2	-	5	909	c.849G>A	c.(847-849)cgG>cgA	p.R283R		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	283					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GATCCCGATCCCGCATCCGAG	0.592													False	0	True	19:15483674	0	T	15483674	C	T	15483674	2	4	43	1	0	0	0	0	0	0	0	1	457	610	22	2		2	AKAP8	19	15483674	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	4460792	15483674	43645309	110	3550											
UPK1A	11045	broad.mit.edu	37	chr19	36168781	36168781	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tatctcgtggtttgggtttgCcatcctgatgtggacggtga	14	7	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:36168781C>G	ENST00000222275.2	+	6	716	c.716C>G	c.(715-717)gCc>gGc	p.A239G	UPK1A_ENST00000379013.2_Missense_Mutation_p.P272A	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	239					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTTGGGTTTGCCATCCTGATG	0.657													False	0	False	19:36168781	0	G	36168781	C	G	36168781	3	3	43	1	0	0	0	0	1	0	0	0	17091	739	26	5	738	5	UPK1A	19	36168781	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	20685107	36168781	22960202	111	3551											
SIPA1L3	23094	broad.mit.edu	37	chr19	38590667	38590667	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaccaagcatgggaccggGcggggcctgcccttgaagga	16	13	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:38590667G>T	ENST00000222345.6	+	5	2240	c.1731G>T	c.(1729-1731)ggG>ggT	p.G577G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	577					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATGGGACCGGGCGGGGCCTGC	0.632													False	0	True	19:38590667	0	T	38590667	G	T	38590667	2	4	43	1	0	0	0	0	0	0	0	1	14412	1190	42	3		3	SIPA1L3	19	38590667	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	2421886	38590667	20538316	112	3552											
RSPH6A	81492	broad.mit.edu	37	chr19	46299149	46299150	+	In_Frame_Ins	INS	-	-	CCTCCTCCTCCTCGC													gtcatctgtctcctcgccctINScctcctcctcctcgccctcc							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:46299149_46299150insCCTCCTCCTCCTCGC	ENST00000221538.3	-	6	2273_2274	c.2131_2132insGCGAGGAGGAGGAGG	c.(2131-2133)gag>gGCGAGGAGGAGGAGGag	p.710_711insGEEEE	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Ins_p.446_447insGEEEE	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	710	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ctcctcgccctcctcctcctcc	0.559													False	0	True	19:46299149	0	CCTCCTCCTCCTCGC	46299150	-	CCTCCTCCTCCTCGC	46299149	7	5	43	1	0	1	1	0	0	0	0	0	13786	1551	54	0	25	0	RSPH6A	19	46299149	In_Frame_Ins	INS	-	TCGA-FB-AAPU-01A-31D-A40W-08	7708482	46299149	12829834	113	3553											
ZNF600	162966	broad.mit.edu	37	chr19	53270312	53270312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtctacgatggcatgtaaGggatgatacctgactgaagg	13	6	1	3	rs150744538		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:53270312G>T	ENST00000338230.3	-	3	964	c.697C>A	c.(697-699)Ctt>Att	p.L233I		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGGCATGTAAGGGATGATACC	0.408													False	0	True	19:53270312	0	T	53270312	G	T	53270312	3	4	43	1	0	0	0	0	1	0	0	0	18113	1000	35	3	1475	3	ZNF600	19	53270312	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	6971163	53270312	5858671	114	3554											
CASS4	57091	broad.mit.edu	37	chr20	55033569	55033569	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcactcagagcaagctggtCatcatggtgggacagaagct	12	9	4	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:55033569C>T	ENST00000371336.3	+	6	2328	c.2127C>T	c.(2125-2127)gtC>gtT	p.V709V	CASS4_ENST00000434344.1_Silent_p.V272V|CASS4_ENST00000360314.3_Silent_p.V709V	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	709					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCAAGCTGGTCATCATGGTGG	0.617													False	0	False	20:55033569	0	T	55033569	C	T	55033569	2	4	43	1	0	0	0	0	0	0	0	1	2703	813	29	2		2	CASS4	20	55033569	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08		55033569	7991951	115	3555											
CDH4	1002	broad.mit.edu	37	chr20	60511862	60511862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggtcttcgactacgAggggagcggctccaccgcag	14	14	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:60511862A>G	ENST00000360469.5	+	16	2700	c.2612A>G	c.(2611-2613)gAg>gGg	p.E871G	CDH4_ENST00000543233.1_Missense_Mutation_p.E797G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	871					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TTCGACTACGAGGGGAGCGGC	0.627													False	0	True	20:60511862	0	G	60511862	A	G	60511862	3	3	43	1	0	0	0	0	1	0	0	0	3135	304	11	4	2674	4	CDH4	20	60511862	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	5478293	60511862	2513658	116	3556											
LSM14B	149986	broad.mit.edu	37	chr20	60701454	60701454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacggcccgctggcggccaGctccctgctcagccagcagt	12	18	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:60701454G>A	ENST00000253001.4	+	3	592	c.386G>A	c.(385-387)aGc>aAc	p.S129N	LSM14B_ENST00000279068.6_Missense_Mutation_p.S129N|LSM14B_ENST00000370915.1_Missense_Mutation_p.S129N			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	129					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTGGCGGCCAGCTCCCTGCTC	0.627													False	0	False	20:60701454	0	A	60701454	G	A	60701454	3	1	43	1	0	0	0	0	1	0	0	0	9117	971	34	2	396	2	LSM14B	20	60701454	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	189592	60701454	2324066	117	3557											
ADAMTS1	9510	broad.mit.edu	37	chr21	28214913	28214913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgctttagaccactgccGtggaattctgccatcgactg	9	11	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr21:28214913G>A	ENST00000284984.3	-	2	1276	c.822C>T	c.(820-822)caC>caT	p.H274H		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1		Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GACCACTGCCGTGGAATTCTG	0.483													False	0	False	21:28214913	0	A	28214913	G	A	28214913	2	1	43	1	0	0	0	0	0	0	0	1	255	1136	40	1		1	ADAMTS1	21	28214913	Silent	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08		28214913	19914982	118	3558											
TMPRSS3	64699	broad.mit.edu	37	chr21	43815480	43815480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcaaggccaaaaagcgatCggaatgagaagggggcttca	13	8	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr21:43815480C>T	ENST00000291532.3	-	2	1002	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	TMPRSS3_ENST00000398397.3_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R100Q	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	16					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AAAAAGCGATCGGAATGAGAA	0.517													False	0	False	21:43815480	0	T	43815480	C	T	43815480	3	4	43	1	0	0	0	0	1	0	0	0	16330	884	31	1	1448	1	TMPRSS3	21	43815480	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	15600567	43815480	4314415	119	3559											
TRMT2A	27037	broad.mit.edu	37	chr22	20103778	20103778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagggcaccatgcaaaaCgcgcagggccttgtccctct	11	15	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:20103778C>T	ENST00000252136.7	-	2	770	c.382G>A	c.(382-384)Gtt>Att	p.V128I	RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.V128I|TRMT2A_ENST00000403707.3_Missense_Mutation_p.V128I|TRMT2A_ENST00000439169.2_Missense_Mutation_p.V128I	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	128	RRM.				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						CCATGCAAAACGCGCAGGGCC	0.647													False	0	True	22:20103778	0	T	20103778	C	T	20103778	3	4	43	1	0	0	0	0	1	0	0	0	16648	536	19	1	1539	1	TRMT2A	22	20103778	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08		20103778	31200788	120	3560											
TOP3B	8940	broad.mit.edu	37	chr22	22316871	22316871	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgggtgggttcgtctgcttCtccagcatcttcacctcgcc	10	15	4	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:22316871C>T	ENST00000398793.2	-	13	1889	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	TOP3B_ENST00000357179.5_Silent_p.E485E|TOP3B_ENST00000413067.2_Silent_p.E214E	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	485					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCGTCTGCTTCTCCAGCATCT	0.662													False	0	False	22:22316871	0	T	22316871	C	T	22316871	2	4	43	1	0	0	0	0	0	0	0	1	16451	912	32	2		2	TOP3B	22	22316871	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	2213093	22316871	28987695	121	3561											
SUSD2	56241	broad.mit.edu	37	chr22	24579030	24579030	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	catcctctcctccagatgccCaagagagctgctccatgcgc	8	17	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:24579030C>G	ENST00000358321.3	+	2	343	c.82C>G	c.(82-84)Caa>Gaa	p.Q28E		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	28	SMB.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TCCAGATGCCCAAGAGAGCTG	0.642													False	0	True	22:24579030	0	G	24579030	C	G	24579030	3	3	43	1	0	0	0	0	1	0	0	0	15490	595	21	5	88	5	SUSD2	22	24579030	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	2262159	24579030	26725536	122	3562											
SUSD2	56241	broad.mit.edu	37	chr22	24579094	24579094	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcctgccacccgacgtgctCtggccttggcacctgctgct	10	17	1	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:24579094C>G	ENST00000358321.3	+	2	407	c.146C>G	c.(145-147)tCt>tGt	p.S49C		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	49	SMB.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCGACGTGCTCTGGCCTTGGC	0.632													False	0	False	22:24579094	0	G	24579094	C	G	24579094	3	3	43	1	0	0	0	0	1	0	0	0	15490	913	32	5	152	5	SUSD2	22	24579094	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	64	24579094	26725472	123	3563											
THOC5	8563	broad.mit.edu	37	chr22	29915009	29915009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttacctagggatgcaaacTgtttgtggagggccaggcgg	16	8	0	0			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:29915009T>C	ENST00000490103.1	-	15	1597	c.1475A>G	c.(1474-1476)cAg>cGg	p.Q492R	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397873.2_Missense_Mutation_p.Q492R|THOC5_ENST00000397872.1_Missense_Mutation_p.Q492R	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	492					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGATGCAAACTGTTTGTGGAG	0.507													False	0	False	22:29915009	0	C	29915009	T	C	29915009	3	2	43	1	0	0	0	0	1	0	0	0	15950	1580	55	4	600	4	THOC5	22	29915009	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	5335915	29915009	21389557	124	3564											
TMPRSS6	164656	broad.mit.edu	37	chr22	37466587	37466587	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcgatgagggcccccccaCagatgtgtcgaccccgaacc	11	17	0	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:37466587C>A	ENST00000381792.2	-	15	1918	c.1778G>T	c.(1777-1779)tGt>tTt	p.C593F	TMPRSS6_ENST00000346753.3_Missense_Mutation_p.C602F|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.C593F|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.C593F			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	602	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGCCCCCCCACAGATGTGTCG	0.662													False	0	False	22:37466587	0	A	37466587	C	A	37466587	3	1	43	1	0	0	0	0	1	0	0	0	16333	478	17	3	646	3	TMPRSS6	22	37466587	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	7551578	37466587	13837979	125	3565											
JOSD1	9929	broad.mit.edu	37	chr22	39084975	39084975	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctccaatccactcgggcatCttgagtttggagtcgaggtt	11	11	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:39084975C>A	ENST00000216039.5	-	3	1153	c.474G>T	c.(472-474)aaG>aaT	p.K158N		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	158	Josephin.						peptidase activity			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					ACTCGGGCATCTTGAGTTTGG	0.547													False	0	False	22:39084975	0	A	39084975	C	A	39084975	3	1	43	1	0	0	0	0	1	0	0	0	8008	912	32	3	142	3	JOSD1	22	39084975	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	1618388	39084975	12219591	126	3566											
L3MBTL2	83746	broad.mit.edu	37	chr22	41620150	41620150	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcgcctacggctcctcTacgaggatggtgacagtgac	15	11	1	2			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:41620150T>A	ENST00000216237.5	+	9	1227	c.1069T>A	c.(1069-1071)Tac>Aac	p.Y357N		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	357					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACGGCTCCTCTACGAGGATGG	0.612													False	0	False	22:41620150	0	A	41620150	T	A	41620150	3	1	43	1	0	0	0	0	1	0	0	0	8643	1522	53	5	1103	5	L3MBTL2	22	41620150	Missense_Mutation	SNP	T	TCGA-FB-AAPU-01A-31D-A40W-08	2535175	41620150	9684416	127	3567											
BIK	638	broad.mit.edu	37	chr22	43524566	43524566	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgttcttagaagtttcatgGacggtttcaccacacttaag	8	8	3	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:43524566G>C	ENST00000216115.2	+	4	388	c.325G>C	c.(325-327)Gac>Cac	p.D109H		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	109					apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				AAGTTTCATGGACGGTTTCAC	0.517													False	0	False	22:43524566	0	C	43524566	G	C	43524566	3	2	43	1	0	0	0	0	1	0	0	0	1436	1174	41	5	335	5	BIK	22	43524566	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	1904416	43524566	7780000	128	3568											
PIR	8544	broad.mit.edu	37	chrX	15497935	15497946	+	Splice_Site	DEL	GATTTTTTAACT	GATTTTTTAACT	-													aaacagtaaaaacggatccaGattttttaactgaaataaaa							TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	GATTTTTTAACT	GATTTTTTAACT	-	-	GATTTTTTAACT	GATTTTTTAACT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:15497935_15497946delGATTTTTTAACT	ENST00000380421.3	-	3	557_566	c.97_106delAGTTAAAAAATC	c.(97-108)agttaaaaaatc>tc	p.S*KI33del	PIR_ENST00000380420.5_Splice_Site_p.S*KI33del|PIR_ENST00000476381.1_5'UTR|BMX_ENST00000357607.2_Intron	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	33					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					AACGGATCCAGATTTTTTAACTGAAATAAAAA	0.335													False	1	True	X:15497935	0	-	15497946	GATTTTTTAACT	-	15497935	8	5	43	1	0	1	0	1	0	0	1	0	12013	933	33	0	798	0	PIR	23	15497935	Splice_Site	DEL	GATTTTTTAACT	TCGA-FB-AAPU-01A-31D-A40W-08		15497935	139772625	129	3569											
MAP3K15	389840	broad.mit.edu	37	chrX	19418752	19418752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtactgcctgctgtattgGttatcatctctttgaccaaa	7	11	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:19418752G>T	ENST00000338883.4	-	14	1873	c.1874C>A	c.(1873-1875)aCc>aAc	p.T625N	MAP3K15_ENST00000359173.3_Missense_Mutation_p.T60N|MAP3K15_ENST00000469203.2_Missense_Mutation_p.T457N|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	625							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGCTGTATTGGTTATCATCTC	0.433													False	0	False	X:19418752	0	T	19418752	G	T	19418752	3	4	43	1	0	0	0	0	1	0	0	0	9316	1261	44	3	2131	3	MAP3K15	23	19418752	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	3920817	19418752	135851808	130	3570											
CXorf27	25763	broad.mit.edu	37	chrX	37850202	37850202	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtggaccgcgttgtgcAagatgaacgagacgtccaaa	12	10	0	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:37850202A>T	ENST00000341016.3	+	1	133	c.110A>T	c.(109-111)cAa>cTa	p.Q37L	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	37							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CGCGTTGTGCAAGATGAACGA	0.478													False	0	False	X:37850202	0	T	37850202	A	T	37850202	3	4	43	1	0	0	0	0	1	0	0	0	4130	130	5	5	112	5	CXorf27	23	37850202	Missense_Mutation	SNP	A	TCGA-FB-AAPU-01A-31D-A40W-08	18431450	37850202	117420358	131	3571											
DGKK	139189	broad.mit.edu	37	chrX	50136189	50136189	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaataagtcgaacacttgaGatgggttaaggtattgcttg	11	5	1	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:50136189G>T	ENST00000376025.2	-	0	1615							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GAACACTTGAGATGGGTTAAG	0.453													False	0	False	X:50136189	0	T	50136189	G	T	50136189	1	4	43	0	1	0	0	0	0	0	0	0	4502	942	33	3		3	DGKK	23	50136189	RNA	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	12285987	50136189	105134371	132	3572											
SHROOM4	57477	broad.mit.edu	37	chrX	50378166	50378166	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccttctgtggcaaggggaCcacaggctcagatgccctgc	12	14	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:50378166C>G	ENST00000376020.2	-	4	932	c.907G>C	c.(907-909)Gtc>Ctc	p.V303L	SHROOM4_ENST00000460112.3_Missense_Mutation_p.V187L|SHROOM4_ENST00000289292.7_Missense_Mutation_p.V303L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	303					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGCAAGGGGACCACAGGCTCA	0.587													False	0	False	X:50378166	0	G	50378166	C	G	50378166	3	3	43	1	0	0	0	0	1	0	0	0	14377	507	18	5	3598	5	SHROOM4	23	50378166	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	241977	50378166	104892394	133	3573											
RNF128	79589	broad.mit.edu	37	chrX	105970227	105970227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatggtgcttcctgctggcCctgagtccgcaggcacccgg	14	15	0	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:105970227C>T	ENST00000255499.2	+	1	334	c.84C>T	c.(82-84)gcC>gcT	p.A28A	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	28						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TCCTGCTGGCCCTGAGTCCGC	0.711													False	0	True	X:105970227	0	T	105970227	C	T	105970227	2	4	43	1	0	0	0	0	0	0	0	1	13515	610	22	2		2	RNF128	23	105970227	Silent	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	55592061	105970227	49300333	134	3574											
ACSL4	2182	broad.mit.edu	37	chrX	108921610	108921610	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatacataacaatggccatGtctgaaggcgttggtctact	10	8	2	1			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:108921610G>T	ENST00000340800.2	-	8	1317	c.813C>A	c.(811-813)gaC>gaA	p.D271E	ACSL4_ENST00000469796.2_Missense_Mutation_p.D271E|ACSL4_ENST00000348502.6_Missense_Mutation_p.D230E	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	271					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CAATGGCCATGTCTGAAGGCG	0.378													False	0	False	X:108921610	0	T	108921610	G	T	108921610	3	4	43	1	0	0	0	0	1	0	0	0	179	1368	48	3	1362	3	ACSL4	23	108921610	Missense_Mutation	SNP	G	TCGA-FB-AAPU-01A-31D-A40W-08	2951383	108921610	46348950	135	3575											
KIAA1210	57481	broad.mit.edu	37	chrX	118221500	118221500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttggtgcttgacttcaggCtttgataaagatttggaagg	12	5	1	3			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:118221500C>A	ENST00000402510.2	-	11	3692	c.3693G>T	c.(3691-3693)aaG>aaT	p.K1231N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1231										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGACTTCAGGCTTTGATAAAG	0.448													False	0	True	X:118221500	0	A	118221500	C	A	118221500	3	1	43	1	0	0	0	0	1	0	0	0	8264	796	28	3	1452	3	KIAA1210	23	118221500	Missense_Mutation	SNP	C	TCGA-FB-AAPU-01A-31D-A40W-08	9299890	118221500	37049060	136	3576											
C1orf127	148345	broad.mit.edu	37	chr1	11007918	11007918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacaggctcagggtttgCgtggatggagggctggacgt	18	9	1	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:11007918C>T	ENST00000377004.4	-	12	2273	c.2274G>A	c.(2272-2274)acG>acA	p.T758T	C1orf127_ENST00000377008.4_Silent_p.T591T	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	609										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TCAGGGTTTGCGTGGATGGAG	0.672													False	0	False	1:11007918	0	T	11007918	C	T	11007918	2	4	44	1	0	0	0	0	0	0	0	1	2009	755	27	1		1	C1orf127	1	11007918	Silent	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08		11007918	238242703	1	3577											
VPS13D	55187	broad.mit.edu	37	chr1	12516159	12516159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaagtggtgaacaccttGtagccggcatccatggcctg	11	13	0	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:12516159G>A	ENST00000358136.3	+	66	12569	c.12439G>A	c.(12439-12441)Gta>Ata	p.V4147I	VPS13D_ENST00000496628.1_Intron|VPS13D_ENST00000356315.4_Missense_Mutation_p.V4122I|VPS13D_ENST00000543766.1_Missense_Mutation_p.V145I	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4146					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGAACACCTTGTAGCCGGCAT	0.532													False	0	False	1:12516159	0	A	12516159	G	A	12516159	3	1	44	1	0	0	0	0	1	0	0	0	17276	1377	48	2	12697	2	VPS13D	1	12516159	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	1508241	12516159	236734462	2	3578											
UBR4	23352	broad.mit.edu	37	chr1	19439055	19439055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctggcggacctcctcccGcatggccgcagcccctcggc	13	19	0	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:19439055G>A	ENST00000375267.2	-	78	11767	c.11764C>T	c.(11764-11766)Cgg>Tgg	p.R3922W	UBR4_ENST00000375217.2_Missense_Mutation_p.R3915W|UBR4_ENST00000375226.2_Missense_Mutation_p.R3898W|UBR4_ENST00000375254.3_Missense_Mutation_p.R3922W|UBR4_ENST00000375218.3_3'UTR			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3922					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCTCCTCCCGCATGGCCGCA	0.602													False	0	True	1:19439055	0	A	19439055	G	A	19439055	3	1	44	1	0	0	0	0	1	0	0	0	16988	1086	38	1	3903	1	UBR4	1	19439055	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	6922896	19439055	229811566	3	3579											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	44	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-FB-AAPY-01A-11D-A40W-08	3548330	22987385	226263236	4	3580											
GRIK3	2899	broad.mit.edu	37	chr1	37307495	37307495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcgaaccggtcattccCgtatagcgtcctgtctgatt	9	14	2	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:37307495C>T	ENST00000373091.3	-	10	1388	c.1372G>A	c.(1372-1374)Ggg>Agg	p.G458R	GRIK3_ENST00000373093.4_Missense_Mutation_p.G458R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	458					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGGTCATTCCCGTATAGCGTC	0.572													False	0	True	1:37307495	0	T	37307495	C	T	37307495	3	4	44	1	0	0	0	0	1	0	0	0	6822	652	23	1	1415	1	GRIK3	1	37307495	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	14320110	37307495	211943126	5	3581											
NBPF10	100132406	broad.mit.edu	37	chr1	145325997	145325997	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagggcctgaagtcttgcaAgactcactggatagatgtta	11	7	2	3			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:145325997A>G	ENST00000342960.5	+	30	3905	c.3870A>G	c.(3868-3870)caA>caG	p.Q1290Q	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1290										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGTCTTGCAAGACTCACTGG	0.468													False	0	False	1:145325997	0	G	145325997	A	G	145325997	2	3	44	1	0	0	0	0	0	0	0	1	10260	69	3	4		4	NBPF10	1	145325997	Silent	SNP	A	TCGA-FB-AAPY-01A-11D-A40W-08	108018502	145325997	103924624	6	3582											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	44	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-FB-AAPY-01A-11D-A40W-08	7345518	152671515	96579106	7	3583											
DCAF8	50717	broad.mit.edu	37	chr1	160213756	160213756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttggccccttaccattagCtaagtctgttctgccatctg	7	12	3	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:160213756C>T	ENST00000368073.3	-	3	477	c.43G>A	c.(43-45)Gct>Act	p.A15T	DCAF8_ENST00000326837.2_Missense_Mutation_p.A15T|DCAF8_ENST00000368074.1_Missense_Mutation_p.A15T|DCAF8_ENST00000608310.1_Missense_Mutation_p.A169T|DCAF8_ENST00000556710.1_Missense_Mutation_p.A169T|DCAF8_ENST00000610139.1_Missense_Mutation_p.A15T|DCAF8_ENST00000475733.1_Missense_Mutation_p.A15T			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	15						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TTACCATTAGCTAAGTCTGTT	0.463													False	0	False	1:160213756	0	T	160213756	C	T	160213756	3	4	44	1	0	0	0	0	1	0	0	0	4301	797	28	2	1798	2	DCAF8	1	160213756	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	7542241	160213756	89036865	8	3584											
ADSS	159	broad.mit.edu	37	chr1	244574656	244574656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaacaggtagttctttaaaCgcccttgcatttgatatgtc	7	8	1	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:244574656C>T	ENST00000366535.3	-	12	1567	c.1251G>A	c.(1249-1251)gcG>gcA	p.A417A		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	417					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	GTTCTTTAAACGCCCTTGCAT	0.333													False	0	True	1:244574656	0	T	244574656	C	T	244574656	2	4	44	1	0	0	0	0	0	0	0	1	347	523	19	1		1	ADSS	1	244574656	Silent	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	84360900	244574656	4675965	9	3585											
SLC4A5	57835	broad.mit.edu	37	chr2	74477486	74477486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctgataattgtcggtgGcatcccccagaagcccacca	8	15	0	2			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:74477486G>A	ENST00000394019.2	-	17	2034	c.1637C>T	c.(1636-1638)gCc>gTc	p.A546V	SLC4A5_ENST00000423644.1_Missense_Mutation_p.A546V|SLC4A5_ENST00000357822.5_Missense_Mutation_p.A546V|SLC4A5_ENST00000358683.4_Missense_Mutation_p.A482V|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.A546V|SLC4A5_ENST00000346834.4_Missense_Mutation_p.A546V|SLC4A5_ENST00000377634.4_Missense_Mutation_p.A546V|SLC4A5_ENST00000359484.4_Missense_Mutation_p.A482V	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	546						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATTGTCGGTGGCATCCCCCAG	0.527											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:74477486	0	A	74477486	G	A	74477486	3	1	44	1	0	0	0	0	1	0	0	0	14737	1203	42	2	1836	2	SLC4A5	2	74477486	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08		74477486	168721887	10	3586											
ZNF385B	151126	broad.mit.edu	37	chr2	180308144	180308145	+	In_Frame_Ins	INS	-	-	TAGGAAGTTGAGAAA													gctgcgagaggtgaggacagINSgaaggctggggccaaaggct							TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:180308144_180308145insTAGGAAGTTGAGAAA	ENST00000410066.1	-	10	1851_1852	c.1248_1249insTTTCTCAACTTCCTA	c.(1246-1251)ttcctg>ttcTTTCTCAACTTCCTActg	p.416_417FL>FFLNFLL	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_In_Frame_Ins_p.314_315FL>FFLNFLL|ZNF385B_ENST00000336917.5_In_Frame_Ins_p.314_315FL>FFLNFLL|ZNF385B_ENST00000409343.1_In_Frame_Ins_p.340_341FL>FFLNFLL	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	416						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GGTGAGGACAGGAAGGCTGGGG	0.579													False	0	False	2:180308144	0	TAGGAAGTTGAGAAA	180308145	-	TAGGAAGTTGAGAAA	180308144	7	5	44	1	0	1	1	0	0	0	0	0	17960	991	35	0	170	0	ZNF385B	2	180308144	In_Frame_Ins	INS	-	TCGA-FB-AAPY-01A-11D-A40W-08	105830658	180308144	62891229	11	3587											
KIF1A	547	broad.mit.edu	37	chr2	241712602	241712602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcatccttcagctcgCggatcagcttgttgttgggg	11	12	4	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:241712602C>T	ENST00000498729.2	-	13	1355	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	KIF1A_ENST00000320389.7_Missense_Mutation_p.R370H	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	370					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTTCAGCTCGCGGATCAGCTT	0.617													False	0	False	2:241712602	0	T	241712602	C	T	241712602	3	4	44	1	0	0	0	0	1	0	0	0	8333	768	27	1	4103	1	KIF1A	2	241712602	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	61404458	241712602	1486771	12	3588											
FLNB	2317	broad.mit.edu	37	chr3	58120468	58120468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaattgatgcccgagatgCcggggaaggcctgcttgctg	15	10	0	2			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:58120468C>T	ENST00000357272.4	+	27	4805	c.4640C>T	c.(4639-4641)gCc>gTc	p.A1547V	FLNB_ENST00000490882.1_Missense_Mutation_p.A1578V|FLNB_ENST00000493452.1_Missense_Mutation_p.A1378V|FLNB_ENST00000295956.4_Missense_Mutation_p.A1547V|FLNB_ENST00000429972.2_Missense_Mutation_p.A1547V|FLNB_ENST00000348383.5_Missense_Mutation_p.A1547V|FLNB_ENST00000358537.3_Missense_Mutation_p.A1547V|FLNB_ENST00000419752.2_Missense_Mutation_p.A1378V			O75369	FLNB_HUMAN	filamin B, beta	1547					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCCGAGATGCCGGGGAAGGC	0.483													False	0	False	3:58120468	0	T	58120468	C	T	58120468	3	4	44	1	0	0	0	0	1	0	0	0	5974	739	26	2	4843	2	FLNB	3	58120468	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08		58120468	139901962	13	3589											
KLF15	28999	broad.mit.edu	37	chr3	126070729	126070729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgaagggcttctcacccGtgtgccggcgcaggtgggcc	17	13	1	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:126070729G>A	ENST00000296233.3	-	2	1267	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	346						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CTTCTCACCCGTGTGCCGGCG	0.592													False	0	True	3:126070729	0	A	126070729	G	A	126070729	3	1	44	1	0	0	0	0	1	0	0	0	8393	1145	40	1	221	1	KLF15	3	126070729	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	67950261	126070729	71951701	14	3590											
EIF2B5	8893	broad.mit.edu	37	chr3	183854501	183854501	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcttttgttgctggaaagcTgctcaaatcaaagaacattt	8	7	3	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:183854501T>A	ENST00000273783.3	+	2	419	c.297T>A	c.(295-297)gcT>gcA	p.A99A	EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000432569.1_Silent_p.A99A|EIF2B5_ENST00000444495.1_Silent_p.A99A	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	99					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCTGGAAAGCTGCTCAAATCA	0.423													False	0	False	3:183854501	0	A	183854501	T	A	183854501	2	1	44	1	0	0	0	0	0	0	0	1	5034	1567	55	5		5	EIF2B5	3	183854501	Silent	SNP	T	TCGA-FB-AAPY-01A-11D-A40W-08	57783772	183854501	14167929	15	3591											
TP63	8626	broad.mit.edu	37	chr3	189582120	189582120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggagctgttatccgcGccatgcctgtctacaaaaaa	9	12	2	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:189582120G>A	ENST00000264731.3	+	5	768	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T|TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000354600.5_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	227					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTATCCGCGCCATGCCTGT	0.517										HNSCC(45;0.13)			False	0	False	3:189582120	0	A	189582120	G	A	189582120	3	1	44	1	0	0	0	0	1	0	0	0	16475	1087	38	1	743	1	TP63	3	189582120	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	5727619	189582120	8440310	16	3592											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	44	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-FB-AAPY-01A-11D-A40W-08		40434705	150719571	17	3593											
KIAA0922	23240	broad.mit.edu	37	chr4	154533457	154533458	+	In_Frame_Ins	INS	-	-	CTTCATGAG													agatcattgtgaaaatttgaINSagaaggtggacacaaagcct							TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr4:154533457_154533458insCTTCATGAG	ENST00000409959.3	+	26	3521_3522	c.3472_3473insCTTCATGAG	c.(3472-3474)aag>aCTTCATGAGag	p.1158_1158K>TS*E	KIAA0922_ENST00000440693.1_In_Frame_Ins_p.1074_1074K>TS*E|KIAA0922_ENST00000409663.3_In_Frame_Ins_p.1157_1157K>TS*E	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1157						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGAAAATTTGAAGAAGGTGGAC	0.351													False	0	False	4:154533457	0	CTTCATGAG	154533458	-	CTTCATGAG	154533457	7	5	44	1	0	1	1	0	0	0	0	0	8251	247	9	0	3574	0	KIAA0922	4	154533457	In_Frame_Ins	INS	-	TCGA-FB-AAPY-01A-11D-A40W-08	114098752	154533457	36620819	18	3594											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	44	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-FB-AAPY-01A-11D-A40W-08		78610444	102304816	19	3595											
PPIP5K2	23262	broad.mit.edu	37	chr5	102509562	102509562	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgcttctaattttagGtattctagaggtgttctgtc	9	7	4	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:102509562G>A	ENST00000321521.9	+	21	2988	c.2415G>A	c.(2413-2415)gtG>gtA	p.V805V	PPIP5K2_ENST00000414217.1_Splice_Site_p.V805V|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Splice_Site_p.V805V			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	805					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTAATTTTAGGTATTCTAGAG	0.303													False	0	False	5:102509562	0	A	102509562	G	A	102509562	5	1	44	1	0	0	0	0	0	0	1	0	12407	1275	44	2	2493	2	PPIP5K2	5	102509562	Splice_Site	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	23899118	102509562	78405698	20	3596											
PCDHA2	0	broad.mit.edu	37	chr5	140176342	140176342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaaggtgcgcgcagtggAcgctgactcaggctacaacg	16	11	1	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:140176342A>G	ENST00000526136.1	+	1	1793	c.1793A>G	c.(1792-1794)gAc>gGc	p.D598G	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D598G|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D598G	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCAGTGGACGCTGACTCA	0.662													False	0	False	5:140176342	0	G	140176342	A	G	140176342	3	3	44	1	0	0	0	0	1	0	0	0	11592	275	10	4	1795	4	PCDHA2	5	140176342	Missense_Mutation	SNP	A	TCGA-FB-AAPY-01A-11D-A40W-08	37666780	140176342	40738918	21	3597											
CDYL	9425	broad.mit.edu	37	chr6	4892101	4892101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacttcaacagacgccacaCggagaagcagaaggagagca	12	11	1	4			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:4892101C>T	ENST00000328908.5	+	4	472	c.341C>T	c.(340-342)aCg>aTg	p.T114M	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.T60M			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	114	Chromo.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGACGCCACACGGAGAAGCAG	0.507													False	0	False	6:4892101	0	T	4892101	C	T	4892101	3	4	44	1	0	0	0	0	1	0	0	0	3208	536	19	1	185	1	CDYL	6	4892101	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08		4892101	166222966	22	3598											
MAK	4117	broad.mit.edu	37	chr6	10764813	10764813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtcctgaaaactgcccccGaccagtttttgtgttccagg	9	13	0	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:10764813G>A	ENST00000313243.2	-	14	2126	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.R582W|MAK_ENST00000538030.1_3'UTR|MAK_ENST00000354489.2_Missense_Mutation_p.R582W			P20794	MAK_HUMAN	male germ cell-associated kinase	582					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	p.R582R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AACTGCCCCCGACCAGTTTTT	0.398													False	0	True	6:10764813	0	A	10764813	G	A	10764813	3	1	44	1	0	0	0	0	1	0	0	0	9264	1057	37	1	131	1	MAK	6	10764813	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	5872712	10764813	160350254	23	3599											
XPO5	57510	broad.mit.edu	37	chr6	43540277	43540277	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacactgttcttcagaTacaccttctccaatcgagac	5	14	3	3			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:43540277T>C	ENST00000265351.7	-	3	476	c.266A>G	c.(265-267)tAt>tGt	p.Y89C		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	89	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GTTCTTCAGATACACCTTCTC	0.423													False	0	False	6:43540277	0	C	43540277	T	C	43540277	3	2	44	1	0	0	0	0	1	0	0	0	17531	1406	49	4	3468	4	XPO5	6	43540277	Missense_Mutation	SNP	T	TCGA-FB-AAPY-01A-11D-A40W-08	32775464	43540277	127574790	24	3600											
ACAT2	39	broad.mit.edu	37	chr6	160199713	160199718	+	In_Frame_Del	DEL	TAGCCT	TAGCCT	-													caatattgaaggaggggctaTagccttgggccaccctcttg							TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	TAGCCT	TAGCCT	-	-	TAGCCT	TAGCCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:160199713_160199718delTAGCCT	ENST00000367048.4	+	9	2806_2811	c.1046_1051delTAGCCT	c.(1045-1053)atagccttg>atg	p.349_351IAL>M	TCP1_ENST00000321394.7_3'UTR|ACAT2_ENST00000472052.1_3'UTR|ACAT2_ENST00000541436.1_In_Frame_Del_p.378_380IAL>M	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	349						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGAGGGGCTATAGCCTTGGGCCACCC	0.456													False	1	False	6:160199713	0	-	160199718	TAGCCT	-	160199713	7	5	44	1	0	1	0	1	0	0	0	0	122	1406	49	0	1080	0	ACAT2	6	160199713	In_Frame_Del	DEL	TAGCCT	TCGA-FB-AAPY-01A-11D-A40W-08	116659436	160199713	10915354	25	3601											
NAPEPLD	222236	broad.mit.edu	37	chr7	102760426	102760426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtgactgataaggaccGcatctattggagggagttca	14	6	2	2			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:102760426G>A	ENST00000417955.1	-	3	693	c.539C>T	c.(538-540)gCg>gTg	p.A180V	NAPEPLD_ENST00000341533.4_Missense_Mutation_p.A180V|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.A253V|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.A180V|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.A180V			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	180					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GATAAGGACCGCATCTATTGG	0.463													False	0	False	7:102760426	0	A	102760426	G	A	102760426	3	1	44	1	0	0	0	0	1	0	0	0	10230	1087	38	1	654	1	NAPEPLD	7	102760426	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08		102760426	56378237	26	3602											
PARP12	64761	broad.mit.edu	37	chr7	139756817	139756817	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattctcagaattagagaaaTcatgggatctcttacagcta	8	7	3	2			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:139756817T>A	ENST00000263549.3	-	3	1472	c.599A>T	c.(598-600)gAt>gTt	p.D200V		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	200						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ATTAGAGAAATCATGGGATCT	0.438													False	0	True	7:139756817	0	A	139756817	T	A	139756817	3	1	44	1	0	0	0	0	1	0	0	0	11525	1435	50	5	1546	5	PARP12	7	139756817	Missense_Mutation	SNP	T	TCGA-FB-AAPY-01A-11D-A40W-08	36996391	139756817	19381846	27	3603											
RBM12B	389677	broad.mit.edu	37	chr8	94747495	94747496	+	Frame_Shift_Del	DEL	TA	TA	-													ttgtgaaacatgtccgggccTatctctctctagtgaccctg					rs111589624	by1000genomes	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr8:94747495_94747496delTA	ENST00000399300.2	-	3	1356_1357	c.1143_1144delTA	c.(1141-1146)gataggfs	p.DR381fs	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Frame_Shift_Del_p.DR381fs	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	381							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGTCCGGGCCTATCTCTCTCTA	0.361													False	1	True	8:94747495	0	-	94747496	TA	-	94747495	7	5	44	1	0	1	0	1	0	0	0	0	13193	1521	53	0	1865	0	RBM12B	8	94747495	Frame_Shift_Del	DEL	TA	TCGA-FB-AAPY-01A-11D-A40W-08		94747495	51616527	28	3604											
DMRT3	58524	broad.mit.edu	37	chr9	990483	990483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggagcagagcgaacttcCgcagaacctgagagtctagc	13	11	1	3	rs145231691	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:990483C>T	ENST00000190165.2	+	2	935	c.897C>T	c.(895-897)tcC>tcT	p.S299S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	299					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGCGAACTTCCGCAGAACCTG	0.577													False	0	False	9:990483	0	T	990483	C	T	990483	2	4	44	1	0	0	0	0	0	0	0	1	4617	639	23	1		1	DMRT3	9	990483	Silent	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08		990483	140222948	29	3605											
DMRT2	10655	broad.mit.edu	37	chr9	1056404	1056404	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgctctgtttctgcccaacCgcatggtgcctggacctgac	10	15	2	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:1056404C>G	ENST00000382251.3	+	5	1146	c.817C>G	c.(817-819)Cgc>Ggc	p.R273G	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.R273G|DMRT2_ENST00000302441.6_Missense_Mutation_p.R273G			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	273					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TCTGCCCAACCGCATGGTGCC	0.473													False	0	False	9:1056404	0	G	1056404	C	G	1056404	3	3	44	1	0	0	0	0	1	0	0	0	4616	652	23	5	884	5	DMRT2	9	1056404	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	65921	1056404	140157027	30	3606											
SMU1	55234	broad.mit.edu	37	chr9	33068870	33068870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcaccacactgacttcGccagctaaggcctgggcaat	12	13	0	1	rs113018466	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													False	0	False	9:33068870	0	A	33068870	G	A	33068870	2	1	44	1	0	0	0	0	0	0	0	1	14897	1074	38	1		1	SMU1	9	33068870	Silent	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	32012466	33068870	108144561	31	3607											
PARD3	56288	broad.mit.edu	37	chr10	34663823	34663823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcccttgggtggaaggcGtcttcctggcgaaagaccag	14	10	1	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:34663823G>A	ENST00000374789.3	-	11	1972	c.1647C>T	c.(1645-1647)gaC>gaT	p.D549D	PARD3_ENST00000545260.1_Silent_p.D505D|PARD3_ENST00000374794.3_Silent_p.D505D|PARD3_ENST00000346874.4_Silent_p.D549D|PARD3_ENST00000544292.1_Silent_p.D279D|PARD3_ENST00000350537.4_Silent_p.D549D|PARD3_ENST00000340077.5_Silent_p.D549D|PARD3_ENST00000374790.3_Silent_p.D505D|PARD3_ENST00000374776.1_Silent_p.D549D|PARD3_ENST00000545693.1_Silent_p.D549D|PARD3_ENST00000374773.1_Silent_p.D549D|PARD3_ENST00000374788.3_Silent_p.D549D	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	549					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGTGGAAGGCGTCTTCCTGGC	0.478													False	0	False	10:34663823	0	A	34663823	G	A	34663823	2	1	44	1	0	0	0	0	0	0	0	1	11511	1136	40	1		1	PARD3	10	34663823	Silent	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08		34663823	100870924	32	3608											
NPFFR1	64106	broad.mit.edu	37	chr10	72025941	72025941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacagtatgcatgtgccGgttcttgagcacgatgaaac	13	8	1	3			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:72025941G>A	ENST00000277942.6	-	2	213	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1							integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						TGCATGTGCCGGTTCTTGAGC	0.562													False	0	False	10:72025941	0	A	72025941	G	A	72025941	3	1	44	1	0	0	0	0	1	0	0	0	10645	1115	39	1	1089	1	NPFFR1	10	72025941	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	37362118	72025941	63508806	33	3609											
DMBT1	1755	broad.mit.edu	37	chr10	124339199	124339199	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccgtgtgtgatgactActgggacaccaatgatgcca	13	10	0	3			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:124339199A>G	ENST00000338354.3	+	10	891	c.785A>G	c.(784-786)tAc>tGc	p.Y262C	DMBT1_ENST00000368956.2_Missense_Mutation_p.Y262C|DMBT1_ENST00000344338.3_Missense_Mutation_p.Y262C|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.Y262C|DMBT1_ENST00000330163.4_Missense_Mutation_p.Y262C|DMBT1_ENST00000368909.3_Missense_Mutation_p.Y262C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	262	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTGATGACTACTGGGACACC	0.617													False	0	False	10:124339199	0	G	124339199	A	G	124339199	3	3	44	1	0	0	0	0	1	0	0	0	4607	391	14	4	823	4	DMBT1	10	124339199	Missense_Mutation	SNP	A	TCGA-FB-AAPY-01A-11D-A40W-08	52313258	124339199	11195548	34	3610											
CPXM2	119587	broad.mit.edu	37	chr10	125539748	125539748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtggtcatctcgttccGgcggtgataataattattag	12	6	2	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:125539748G>A	ENST00000241305.3	-	7	1067	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	305					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ATCTCGTTCCGGCGGTGATAA	0.448													False	0	False	10:125539748	0	A	125539748	G	A	125539748	3	1	44	1	0	0	0	0	1	0	0	0	3861	1115	39	1	1389	1	CPXM2	10	125539748	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	1200549	125539748	9994999	35	3611											
C11orf40	143501	broad.mit.edu	37	chr11	4594586	4594586	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgccaaggtgtggccgttAtcacccatcaccacactaga	8	14	3	1	rs143067877		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:4594586A>T	ENST00000307616.1	-	2	257	c.258T>A	c.(256-258)gaT>gaA	p.D86E		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	86										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTGGCCGTTATCACCCATCA	0.473													False	0	False	11:4594586	0	T	4594586	A	T	4594586	3	4	44	1	0	0	0	0	1	0	0	0	1647	446	16	5	406	5	C11orf40	11	4594586	Missense_Mutation	SNP	A	TCGA-FB-AAPY-01A-11D-A40W-08		4594586	130411930	36	3612											
AGBL2	79841	broad.mit.edu	37	chr11	47681762	47681762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcaaggatgggtatgccGccatggcagcacagcctctc	13	12	1	0	rs138759912	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:47681762G>A	ENST00000525123.1	-	19	2957	c.2672C>T	c.(2671-2673)gCg>gTg	p.A891V	AGBL2_ENST00000298861.4_Missense_Mutation_p.A891V|AGBL2_ENST00000357610.3_Missense_Mutation_p.A893V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	891					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TGGGTATGCCGCCATGGCAGC	0.507													False	0	False	11:47681762	0	A	47681762	G	A	47681762	3	1	44	1	0	0	0	0	1	0	0	0	376	1087	38	1	40	1	AGBL2	11	47681762	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	43087176	47681762	87324754	37	3613											
NRXN2	9379	broad.mit.edu	37	chr11	64375284	64375284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaaagtcctcgtcgtccGtgggggggaggctggagtca	17	8	1	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:64375284G>A	ENST00000265459.6	-	23	4984	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M	NRXN2_ENST00000377559.3_Missense_Mutation_p.T1438M|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1501M|NRXN2_ENST00000301894.2_Missense_Mutation_p.T462M|NRXN2_ENST00000377551.1_Missense_Mutation_p.T1508M	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1508					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTCGTCGTCCGTGGGGGGGAG	0.687													False	0	False	11:64375284	0	A	64375284	G	A	64375284	3	1	44	1	0	0	0	0	1	0	0	0	10734	1145	40	1	619	1	NRXN2	11	64375284	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	16693522	64375284	70631232	38	3614											
MAP4K2	5871	broad.mit.edu	37	chr11	64566932	64566932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccttcctgcgtggggcGccaaatttcacctggtgaac	11	12	1	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:64566932G>A	ENST00000294066.2	-	14	1105	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	MAP4K2_ENST00000377350.3_Silent_p.G338G	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	338					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TGCGTGGGGCGCCAAATTTCA	0.597													False	0	False	11:64566932	0	A	64566932	G	A	64566932	2	1	44	1	0	0	0	0	0	0	0	1	9327	1074	38	1		1	MAP4K2	11	64566932	Silent	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	191648	64566932	70439584	39	3615											
OR4D5	219875	broad.mit.edu	37	chr11	123810641	123810641	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caactcttcttcttccacttCattggaggcatcaagatctt	5	12	6	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:123810641C>A	ENST00000307033.2	+	1	392	c.318C>A	c.(316-318)ttC>ttA	p.F106L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTTCCACTTCATTGGAGGCA	0.498													False	0	False	11:123810641	0	A	123810641	C	A	123810641	3	1	44	1	0	0	0	0	1	0	0	0	11125	825	29	3	320	3	OR4D5	11	123810641	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	59243709	123810641	11195875	40	3616											
OR8B12	219858	broad.mit.edu	37	chr11	124412927	124412927	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataaagacagtgacaatgggCattccaacgtcaacagccac	8	11	1	2			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:124412927C>A	ENST00000306842.2	-	1	648	c.624G>T	c.(622-624)atG>atT	p.M208I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGACAATGGGCATTCCAACGT	0.453													False	0	True	11:124412927	0	A	124412927	C	A	124412927	3	1	44	1	0	0	0	0	1	0	0	0	11294	710	25	3	310	3	OR8B12	11	124412927	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	602286	124412927	10593589	41	3617											
NTM	50863	broad.mit.edu	37	chr11	132177680	132177680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcctccaatgacgtggcCgcgcccgtggtacggagagt	15	12	0	2			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:132177680C>T	ENST00000374786.1	+	4	1103	c.624C>T	c.(622-624)gcC>gcT	p.A208A	NTM_ENST00000374791.3_Silent_p.A208A|NTM_ENST00000425719.2_Silent_p.A208A|NTM_ENST00000539799.1_Silent_p.A208A|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Silent_p.A199A|NTM_ENST00000374784.1_Silent_p.A208A	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	208	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ATGACGTGGCCGCGCCCGTGG	0.582													False	0	False	11:132177680	0	T	132177680	C	T	132177680	2	4	44	1	0	0	0	0	0	0	0	1	10767	639	23	1		1	NTM	11	132177680	Silent	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	7764753	132177680	2828836	42	3618											
KRT2	3849	broad.mit.edu	37	chr12	53045775	53045777	+	In_Frame_Del	DEL	CCG	CCG	-													agccgcctccaccgaagcccCcgccaccaccaccatggcgg					rs11835758	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	CCG	CCG	-	-	CCG	CCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:53045775_53045777delCCG	ENST00000309680.3	-	1	171_173	c.150_152delCGG	c.(148-153)ggcggg>ggg	p.50_51GG>G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	50	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ACCGAAGCCCCCGCCACCACCAC	0.621													False	1	True	12:53045775	0	-	53045777	CCG	-	53045775	7	5	44	1	0	1	0	1	0	0	0	0	8507	623	22	0	1803	0	KRT2	12	53045775	In_Frame_Del	DEL	CCG	TCGA-FB-AAPY-01A-11D-A40W-08		53045775	80806120	43	3619											
LRP1	4035	broad.mit.edu	37	chr12	57578958	57578958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgtccagcttaaagacAtcaaagtcttcaaccgggac	9	12	3	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:57578958A>G	ENST00000243077.3	+	40	6899	c.6433A>G	c.(6433-6435)Atc>Gtc	p.I2145V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2145					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTTAAAGACATCAAAGTCTT	0.627													False	0	False	12:57578958	0	G	57578958	A	G	57578958	3	3	44	1	0	0	0	0	1	0	0	0	9013	217	8	4	6591	4	LRP1	12	57578958	Missense_Mutation	SNP	A	TCGA-FB-AAPY-01A-11D-A40W-08	4533183	57578958	76272937	44	3620											
MDM1	56890	broad.mit.edu	37	chr12	68720759	68720759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatctgtgggtcatggtaaGggactcttctttttgaaata	10	5	4	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:68720759G>A	ENST00000303145.7	-	3	262	c.176C>T	c.(175-177)cCt>cTt	p.P59L	MDM1_ENST00000430606.2_Missense_Mutation_p.P59L|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000411698.2_Missense_Mutation_p.P59L|MDM1_ENST00000393543.3_3'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	59						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GTCATGGTAAGGGACTCTTCT	0.413													False	0	True	12:68720759	0	A	68720759	G	A	68720759	3	1	44	1	0	0	0	0	1	0	0	0	9479	1000	35	2	2187	2	MDM1	12	68720759	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	11141801	68720759	65131136	45	3621											
RBM19	9904	broad.mit.edu	37	chr12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgcctgaaggccttgCgggcctccaggggctccagg	15	14	0	2			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:114377796C>T	ENST00000545145.2	-	15	1985	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	RBM19_ENST00000261741.5_Missense_Mutation_p.R636H|RBM19_ENST00000392561.3_Missense_Mutation_p.R636H	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	636	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAGGCCTTGCGGGCCTCCAG	0.622													False	0	True	12:114377796	0	T	114377796	C	T	114377796	3	4	44	1	0	0	0	0	1	0	0	0	13200	768	27	1	1015	1	RBM19	12	114377796	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	45657037	114377796	19474099	46	3622											
LCP1	3936	broad.mit.edu	37	chr13	46730641	46730641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttcattgggatgacatgCcgacaatcaggatcattttc	11	8	3	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr13:46730641C>T	ENST00000398576.2	-	8	811	c.423G>A	c.(421-423)cgG>cgA	p.R141R	LCP1_ENST00000323076.2_Silent_p.R141R			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	141	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	p.R141R(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGATGACATGCCGACAATCAG	0.383			T	BCL6	NHL								False	0	False	13:46730641	0	T	46730641	C	T	46730641	2	4	44	1	0	0	0	0	0	0	0	1	8742	726	26	2		2	LCP1	13	46730641	Silent	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08		46730641	68439237	47	3623											
ESR2	0	broad.mit.edu	37	chr14	64735549	64735549	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttcgtaacacttccgaaGtcggcaggcctggcagctct	10	14	1	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr14:64735549G>T	ENST00000557772.1	-	3	615	c.616C>A	c.(616-618)Ctt>Att	p.L206I	ESR2_ENST00000542956.1_Missense_Mutation_p.L206I|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000553796.1_Missense_Mutation_p.L206I|ESR2_ENST00000358599.5_Missense_Mutation_p.L206I|ESR2_ENST00000341099.4_Missense_Mutation_p.L206I|ESR2_ENST00000554572.1_Missense_Mutation_p.L206I|ESR2_ENST00000555278.1_Missense_Mutation_p.L206I|ESR2_ENST00000267525.6_Missense_Mutation_p.L206I|ESR2_ENST00000353772.3_Missense_Mutation_p.L206I|ESR2_ENST00000357782.2_Missense_Mutation_p.L206I	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	206					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CACTTCCGAAGTCGGCAGGCC	0.478													False	0	False	14:64735549	0	T	64735549	G	T	64735549	3	4	44	1	0	0	0	0	1	0	0	0	5289	1029	36	3	1086	3	ESR2	14	64735549	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08		64735549	42613991	48	3624											
ATP10A	57194	broad.mit.edu	37	chr15	25953443	25953443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgatgcctccctctggcGtcaactaggttggagaataa	10	9	2	2			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:25953443G>A	ENST00000356865.6	-	11	2460	c.2349C>T	c.(2347-2349)gaC>gaT	p.D783D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	783					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCCTCTGGCGTCAACTAGGT	0.502													False	0	False	15:25953443	0	A	25953443	G	A	25953443	2	1	44	1	0	0	0	0	0	0	0	1	1120	1136	40	1		1	ATP10A	15	25953443	Silent	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08		25953443	76577949	49	3625											
ATP10A	57194	broad.mit.edu	37	chr15	26026228	26026228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctctccatccaggttggCggtctcgatgtggcatagcc	13	12	2	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:26026228C>T	ENST00000356865.6	-	2	703	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	198					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCAGGTTGGCGGTCTCGATG	0.602													False	0	False	15:26026228	0	T	26026228	C	T	26026228	3	4	44	1	0	0	0	0	1	0	0	0	1120	768	27	1	3987	1	ATP10A	15	26026228	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	72785	26026228	76505164	50	3626											
CACNA1H	8912	broad.mit.edu	37	chr16	1260913	1260913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggcctcggctggtggcGccaagatcctgggtgttctg	15	12	1	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:1260913G>A	ENST00000348261.5	+	21	4413	c.4165G>A	c.(4165-4167)Gcc>Acc	p.A1389T	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1389T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1389T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1389					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGCTGGTGGCGCCAAGATCCT	0.687													False	0	False	16:1260913	0	A	1260913	G	A	1260913	3	1	44	1	0	0	0	0	1	0	0	0	2565	1087	38	1	4243	1	CACNA1H	16	1260913	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08		1260913	89093840	51	3627											
ITGAX	3687	broad.mit.edu	37	chr16	31373160	31373160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgccttcccccaggtaCggagaccacaagcagtagct	10	14	1	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:31373160C>T	ENST00000268296.4	+	10	1137	c.1016C>T	c.(1015-1017)aCg>aTg	p.T339M	ITGAX_ENST00000562522.1_Missense_Mutation_p.T339M	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	339	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCCCAGGTACGGAGACCACA	0.572													False	0	False	16:31373160	0	T	31373160	C	T	31373160	3	4	44	1	0	0	0	0	1	0	0	0	7939	536	19	1	1054	1	ITGAX	16	31373160	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	30112247	31373160	58981593	52	3628											
CCDC102A	92922	broad.mit.edu	37	chr16	57559977	57559977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcccccaggctgcgcgcCtcccagcagtcctcagactc	9	21	1	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:57559977C>T	ENST00000258214.2	-	3	894	c.648G>A	c.(646-648)gaG>gaA	p.E216E		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	216										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GGCTGCGCGCCTCCCAGCAGT	0.716													False	0	True	16:57559977	0	T	57559977	C	T	57559977	2	4	44	1	0	0	0	0	0	0	0	1	2756	680	24	2		2	CCDC102A	16	57559977	Silent	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	26186817	57559977	32794776	53	3629											
TP53	7157	broad.mit.edu	37	chr17	7577558	7577558	+	Frame_Shift_Del	DEL	G	G	-													cggttcatgccgcccatgcaGgaactgttacacatgtagtt							TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:7577558delG	ENST00000420246.2	-	7	855	c.723delC	c.(721-723)tccfs	p.S241fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S241fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S241fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242fs*5(9)|p.0?(8)|p.?(5)|p.S241del(5)|p.S241F(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCCCATGCAGGAACTGTTAC	0.577		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)			False	2	False	17:7577558	0	-	7577558	G	-	7577558	7	5	44	1	0	1	0	1	0	0	0	0	16464	987	35	0	567	0	TP53	17	7577558	Frame_Shift_Del	DEL	G	TCGA-FB-AAPY-01A-11D-A40W-08		7577558	73617652	54	3630											
MAP2K4	6416	broad.mit.edu	37	chr17	11998898	11998898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcattcttttccagagaattCggtcaacagtggatgaaaaa	8	7	3	2			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:11998898C>T	ENST00000415385.3	+	5	486	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	MAP2K4_ENST00000353533.5_Missense_Mutation_p.R134W|MAP2K4_ENST00000581941.1_3'UTR	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	134	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.R134W(2)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CCAGAGAATTCGGTCAACAGT	0.338			"D, Mis, N"		"pancreatic, breast, colorectal"								False	0	False	17:11998898	0	T	11998898	C	T	11998898	3	4	44	1	0	0	0	0	1	0	0	0	9306	875	31	1	414	1	MAP2K4	17	11998898	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	4421340	11998898	69196312	55	3631											
SARM1	23098	broad.mit.edu	37	chr17	26715525	26715525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcactggacaagtgcatGcaagaccatgactgcaagga	13	9	0	2			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:26715525G>A	ENST00000457710.3	+	7	2259	c.1788G>A	c.(1786-1788)atG>atA	p.M596I	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	630	TIR.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		ACAAGTGCATGCAAGACCATG	0.542													False	0	True	17:26715525	0	A	26715525	G	A	26715525	3	1	44	1	0	0	0	0	1	0	0	0	13922	1319	46	2	1914	2	SARM1	17	26715525	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	14716627	26715525	54479685	56	3632											
KRTAP4-2	85291	broad.mit.edu	37	chr17	39334112	39334112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctggccacagctggggCggcagcaggtgggctggcag	20	10	1	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:39334112C>T	ENST00000377726.2	-	1	348	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	102	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament		p.R102H(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGCTGGGGCGGCAGCAGGT	0.657													False	0	True	17:39334112	0	T	39334112	C	T	39334112	3	4	44	1	0	0	0	0	1	0	0	0	8602	768	27	1	109	1	KRTAP4-2	17	39334112	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	12618587	39334112	41861098	57	3633											
GJC1	10052	broad.mit.edu	37	chr17	42882797	42882797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcgttgtcctcctccGtttcttccagagcccggtgt	8	16	2	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:42882797G>A	ENST00000426548.1	-	3	658	c.389C>T	c.(388-390)aCg>aTg	p.T130M	GJC1_ENST00000330514.4_Missense_Mutation_p.T130M|GJC1_ENST00000590758.1_Missense_Mutation_p.T130M|GJC1_ENST00000592524.1_Missense_Mutation_p.T130M	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	130					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GTCCTCCTCCGTTTCTTCCAG	0.483													False	0	True	17:42882797	0	A	42882797	G	A	42882797	3	1	44	1	0	0	0	0	1	0	0	0	6459	1145	40	1	805	1	GJC1	17	42882797	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	3548685	42882797	38312413	58	3634											
CDC27	996	broad.mit.edu	37	chr17	45219271	45219271	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaatttggcacagtaccCaaccagtattgtagtggtga	9	9	0	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:45219271C>T	ENST00000066544.3	-	12	1592	c.1499G>A	c.(1498-1500)tGg>tAg	p.W500*	CDC27_ENST00000527547.1_Nonsense_Mutation_p.W499*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.W506*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.W439*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	500					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GCACAGTACCCAACCAGTATT	0.358													False	0	True	17:45219271	0	T	45219271	C	T	45219271	4	4	44	1	0	0	0	0	0	1	0	0	3089	595	21	2	1007	2	CDC27	17	45219271	Nonsense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	2336474	45219271	35975939	59	3635											
KCNH6	81033	broad.mit.edu	37	chr17	61611293	61611293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggagtacaagctgcaggCgccgcgcatccaccgctgga	14	15	0	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:61611293C>T	ENST00000583023.1	+	5	733	c.722C>T	c.(721-723)gCg>gTg	p.A241V	KCNH6_ENST00000314672.5_Missense_Mutation_p.A241V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A241V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A241V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A241V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	241					regulation of transcription, DNA-dependent|signal transduction			p.A241V(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AAGCTGCAGGCGCCGCGCATC	0.672													False	0	False	17:61611293	0	T	61611293	C	T	61611293	3	4	44	1	0	0	0	0	1	0	0	0	8086	768	27	1	740	1	KCNH6	17	61611293	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	16392022	61611293	19583917	60	3636											
LRRC37A3	374819	broad.mit.edu	37	chr17	62893346	62893346	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcggggacatgacacaCgctagtgccgggcactgagc	15	13	0	2			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:62893346C>A	ENST00000584306.1	-	3	560	c.30G>T	c.(28-30)gcG>gcT	p.A10A	LRRC37A3_ENST00000319651.5_Silent_p.A10A|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584959.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	10						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACATGACACACGCTAGTGCCG	0.572													False	0	True	17:62893346	0	A	62893346	C	A	62893346	2	1	44	1	0	0	0	0	0	0	0	1	9055	523	19	3		3	LRRC37A3	17	62893346	Silent	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	1282053	62893346	18301864	61	3637											
APCDD1	147495	broad.mit.edu	37	chr18	10471951	10471951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtaccttcaccacaacCtcgaccacctggtcgaggag	9	15	1	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:10471951C>T	ENST00000355285.5	+	3	1021	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1						hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TCACCACAACCTCGACCACCT	0.572													False	0	False	18:10471951	0	T	10471951	C	T	10471951	3	4	44	1	0	0	0	0	1	0	0	0	767	681	24	2	677	2	APCDD1	18	10471951	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08		10471951	67605297	62	3638											
ROCK1	6093	broad.mit.edu	37	chr18	18562785	18562785	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcatctgtccttcatttcctCtatactgtcttcagatgaaa	5	11	5	2			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:18562785C>T	ENST00000399799.2	-	21	3438	c.2498G>A	c.(2497-2499)aGa>aAa	p.R833K		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCATTTCCTCTATACTGTCT	0.333													False	0	False	18:18562785	0	T	18562785	C	T	18562785	3	4	44	1	0	0	0	0	1	0	0	0	13596	913	32	2	1618	2	ROCK1	18	18562785	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	8090834	18562785	59514463	63	3639											
SMAD4	4089	broad.mit.edu	37	chr18	48581229	48581229	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttgtccactgaaggacattCaattcaaaccatccagcatc	6	12	2	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:48581229C>A	ENST00000342988.3	+	5	1071	c.533C>A	c.(532-534)tCa>tAa	p.S178*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S178*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S178*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	178					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAAGGACATTCAATTCAAACC	0.438													False	0	True	18:48581229	0	A	48581229	C	A	48581229	4	1	44	1	0	0	0	0	0	1	0	0	14840	838	29	3	547	3	SMAD4	18	48581229	Nonsense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	30018444	48581229	29496019	64	3640											
PLIN4	729359	broad.mit.edu	37	chr19	4511859	4511859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgacattcactgcccccaTgagcccagtagtgactgtgt	11	13	1	2			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:4511859T>C	ENST00000301286.3	-	3	2070	c.2071A>G	c.(2071-2073)Atg>Gtg	p.M691V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	691	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACTGCCCCCATGAGCCCAGTA	0.592													False	0	False	19:4511859	0	C	4511859	T	C	4511859	3	2	44	1	0	0	0	0	1	0	0	0	12161	1464	51	4	2018	4	PLIN4	19	4511859	Missense_Mutation	SNP	T	TCGA-FB-AAPY-01A-11D-A40W-08		4511859	54617124	65	3641											
DNMT1	1786	broad.mit.edu	37	chr19	10254528	10254528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagatctctttgatccgGccaattcggtagggctcagg	12	10	2	3			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:10254528G>A	ENST00000340748.4	-	28	3217	c.2982C>T	c.(2980-2982)ggC>ggT	p.G994G	DNMT1_ENST00000359526.4_Silent_p.G1010G|DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Silent_p.G994G			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	994	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTTTGATCCGGCCAATTCGGT	0.542													False	0	False	19:10254528	0	A	10254528	G	A	10254528	2	1	44	1	0	0	0	0	0	0	0	1	4705	1190	42	2		2	DNMT1	19	10254528	Silent	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	5742669	10254528	48874455	66	3642											
AKT2	208	broad.mit.edu	37	chr19	40762881	40762881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagagtctgatcaggggcctCgggcctctccttgtacccaa	11	13	3	2			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:40762881C>T	ENST00000392038.2	-	3	425	c.127G>A	c.(127-129)Gag>Aag	p.E43K	AKT2_ENST00000424901.1_Missense_Mutation_p.E43K|AKT2_ENST00000579047.1_5'UTR|AKT2_ENST00000311278.6_Missense_Mutation_p.E43K	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	43	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TCAGGGGCCTCGGGCCTCTCC	0.562			A		"ovarian, pancreatic "								False	0	True	19:40762881	0	T	40762881	C	T	40762881	3	4	44	1	0	0	0	0	1	0	0	0	480	893	31	1	1366	1	AKT2	19	40762881	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	30508353	40762881	18366102	67	3643											
PRKD2	25865	broad.mit.edu	37	chr19	47201092	47201093	+	Frame_Shift_Ins	INS	-	-	ATGTA													gcaccaccctcattagggggINSatgtaccccagggagctgcg							TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:47201092_47201093insATGTA	ENST00000291281.4	-	8	1361_1362	c.1136_1137insTACAT	c.(1135-1137)atcfs	p.-379fs	PRKD2_ENST00000601806.1_Frame_Shift_Ins_p.-222fs|PRKD2_ENST00000600194.1_Frame_Shift_Ins_p.-222fs|PRKD2_ENST00000595515.1_Frame_Shift_Ins_p.-379fs|PRKD2_ENST00000433867.1_Frame_Shift_Ins_p.-379fs			Q9BZL6	KPCD2_HUMAN	protein kinase D2						cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCATTAGGGGGATGTACCCCAG	0.574													False	1	True	19:47201092	0	ATGTA	47201093	-	ATGTA	47201092	7	5	44	1	0	1	1	0	0	0	0	0	12595	1164	41	0	1543	0	PRKD2	19	47201092	Frame_Shift_Ins	INS	-	TCGA-FB-AAPY-01A-11D-A40W-08	6438211	47201092	11927891	68	3644											
ZNF114	163071	broad.mit.edu	37	chr19	48789965	48789965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtgcagaagaagccctacGaatgtgaagaatgtgggaaa	13	5	0	4			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:48789965G>A	ENST00000595607.1	+	6	1578	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	ZNF114_ENST00000315849.1_Missense_Mutation_p.E362K|ZNF114_ENST00000600687.1_Missense_Mutation_p.E362K|ZNF114_ENST00000597695.1_Missense_Mutation_p.E328K			Q8NC26	ZN114_HUMAN	zinc finger protein 114	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		GAAGCCCTACGAATGTGAAGA	0.388													False	0	False	19:48789965	0	A	48789965	G	A	48789965	3	1	44	1	0	0	0	0	1	0	0	0	17799	1059	37	1	1094	1	ZNF114	19	48789965	Missense_Mutation	SNP	G	TCGA-FB-AAPY-01A-11D-A40W-08	1588873	48789965	10339018	69	3645											
CNOT3	4849	broad.mit.edu	37	chr19	54649652	54649652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcccccacagcacaggCgctggtcgccacctcccctc	8	21	1	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:54649652C>T	ENST00000406403.1	+	8	2313	c.710C>T	c.(709-711)gCg>gTg	p.A237V	CNOT3_ENST00000358389.3_Missense_Mutation_p.A56V|CNOT3_ENST00000221232.5_Missense_Mutation_p.A237V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	237					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACAGCACAGGCGCTGGTCGCC	0.632													False	0	False	19:54649652	0	T	54649652	C	T	54649652	3	4	44	1	0	0	0	0	1	0	0	0	3643	768	27	1	740	1	CNOT3	19	54649652	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	5859687	54649652	4479331	70	3646											
TNNT1	7138	broad.mit.edu	37	chr19	55653261	55653261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccttctgggatctttggCgggatcaaaggaggcaccac	12	12	3	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:55653261C>T	ENST00000588981.1	-	7	360	c.156G>A	c.(154-156)ccG>ccA	p.P52P	TNNT1_ENST00000536926.1_Silent_p.P41P|TNNT1_ENST00000291901.8_Silent_p.P52P|TNNT1_ENST00000587758.1_Silent_p.P41P|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000356783.5_Silent_p.P41P|TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000592920.1_5'UTR	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	52					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGATCTTTGGCGGGATCAAAG	0.597													False	0	True	19:55653261	0	T	55653261	C	T	55653261	2	4	44	1	0	0	0	0	0	0	0	1	16412	755	27	1		1	TNNT1	19	55653261	Silent	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	1003609	55653261	3475722	71	3647											
KRTAP19-3	337970	broad.mit.edu	37	chr21	31864178	31864178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagccagaacccagtctgCggaagctgccacatccacag	9	16	1	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr21:31864178C>T	ENST00000334063.4	-	1	97	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	33						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						ACCCAGTCTGCGGAAGCTGCC	0.582													False	0	False	21:31864178	0	T	31864178	C	T	31864178	3	4	44	1	0	0	0	0	1	0	0	0	8580	768	27	1	151	1	KRTAP19-3	21	31864178	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08		31864178	16265717	72	3648											
KDM6A	7403	broad.mit.edu	37	chrX	44833922	44833922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctttcagcattatctgcaTaccagaggtactacagttta	6	10	2	1			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:44833922T>C	ENST00000377967.4	+	4	387	c.346T>C	c.(346-348)Tac>Cac	p.Y116H	KDM6A_ENST00000382899.4_Missense_Mutation_p.Y116H|KDM6A_ENST00000543216.1_Missense_Mutation_p.Y116H|KDM6A_ENST00000536777.1_Missense_Mutation_p.Y116H	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	116					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(14)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTATCTGCATACCAGAGGTA	0.348			"D, N, F, S"		"renal, oesophageal SCC, MM"								False	0	False	X:44833922	0	C	44833922	T	C	44833922	3	2	44	1	0	0	0	0	1	0	0	0	8187	1406	49	4	360	4	KDM6A	23	44833922	Missense_Mutation	SNP	T	TCGA-FB-AAPY-01A-11D-A40W-08		44833922	110436638	73	3649											
FAM104B	90736	broad.mit.edu	37	chrX	55172659	55172659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatcgggttcagtaacaAtctggtttaagttgccttct	9	8	3	0	rs5018687	by1000genomes	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:55172659A>G	ENST00000425133.2	-	3	247	c.209T>C	c.(208-210)aTt>aCt	p.I70T	FAM104B_ENST00000477847.2_Missense_Mutation_p.I66T|FAM104B_ENST00000332132.4_Missense_Mutation_p.I70T|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000358460.4_Missense_Mutation_p.I69T|FAM104B_ENST00000489298.1_Missense_Mutation_p.I68T	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	69								p.I70T(2)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TTCAGTAACAATCTGGTTTAA	0.458													False	0	False	X:55172659	0	G	55172659	A	G	55172659	3	3	44	1	0	0	0	0	1	0	0	0	5422	101	4	4	246	4	FAM104B	23	55172659	Missense_Mutation	SNP	A	TCGA-FB-AAPY-01A-11D-A40W-08	10338737	55172659	100097901	74	3650											
AFF2	2334	broad.mit.edu	37	chrX	148072839	148072839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggactgtgttggctgCgcatcgatgcccacttgttg	13	11	0	0			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:148072839C>T	ENST00000370460.2	+	21	4392	c.3913C>T	c.(3913-3915)Cgc>Tgc	p.R1305C	AFF2_ENST00000286437.5_Missense_Mutation_p.R946C|AFF2_ENST00000342251.3_Missense_Mutation_p.R1272C|AFF2_ENST00000370457.5_Missense_Mutation_p.R1270C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1305					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTGGCTGCGCATCGATGC	0.542													False	0	False	X:148072839	0	T	148072839	C	T	148072839	3	4	44	1	0	0	0	0	1	0	0	0	357	768	27	1	4050	1	AFF2	23	148072839	Missense_Mutation	SNP	C	TCGA-FB-AAPY-01A-11D-A40W-08	92900180	148072839	7197721	75	3651											
TAS1R2	80834	broad.mit.edu	37	chr1	19183978	19183978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccaggaagtagagcacCggctggacattgttggagat	15	7	0	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:19183978C>T	ENST00000375371.3	-	2	351	c.330G>A	c.(328-330)ccG>ccA	p.P110P	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	110					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGTAGAGCACCGGCTGGACAT	0.542													False	0	False	1:19183978	0	T	19183978	C	T	19183978	2	4	45	1	0	0	0	0	0	0	0	1	15645	639	23	1		1	TAS1R2	1	19183978	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08		19183978	230066643	1	3652											
EPHA8	2046	broad.mit.edu	37	chr1	22924191	22924191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactccggggaagtctgctaCgggaggctgcgggtgccagg	19	10	1	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:22924191C>T	ENST00000166244.3	+	11	2025	c.1953C>T	c.(1951-1953)taC>taT	p.Y651Y		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	651	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGTCTGCTACGGGAGGCTGC	0.692													False	0	True	1:22924191	0	T	22924191	C	T	22924191	2	4	45	1	0	0	0	0	0	0	0	1	5205	547	19	1		1	EPHA8	1	22924191	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	3740213	22924191	226326430	2	3653											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	45	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-FB-AAPZ-01A-11D-A40W-08	63194	22987385	226263236	3	3654											
THRAP3	9967	broad.mit.edu	37	chr1	36752394	36752394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcttctaaggatagccGgccatctcaggctgccgggg	13	13	3	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:36752394G>A	ENST00000354618.5	+	4	787	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	THRAP3_ENST00000469141.2_Missense_Mutation_p.R188Q	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	188	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGATAGCCGGCCATCTCAG	0.527			T	USP6	aneurysmal bone cysts								False	0	False	1:36752394	0	A	36752394	G	A	36752394	3	1	45	1	0	0	0	0	1	0	0	0	15956	1116	39	1	569	1	THRAP3	1	36752394	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	13765009	36752394	212498227	4	3655											
DENND2C	163259	broad.mit.edu	37	chr1	115130448	115130448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggaggtgtgggacttacGgaatggttccctttggaaaa	15	6	0	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:115130448G>A	ENST00000393274.1	-	19	3182	c.2557C>T	c.(2557-2559)Cgt>Tgt	p.R853C	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R796C|DENND2C_ENST00000393277.1_Missense_Mutation_p.R741C	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	853	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGGACTTACGGAATGGTTCC	0.483													False	0	False	1:115130448	0	A	115130448	G	A	115130448	3	1	45	1	0	0	0	0	1	0	0	0	4460	1116	39	1	241	1	DENND2C	1	115130448	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	78378054	115130448	134120173	5	3656											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	45	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-FB-AAPZ-01A-11D-A40W-08	37541067	152671515	96579106	6	3657											
GBA	2629	broad.mit.edu	37	chr1	155209725	155209725	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccatactcagctccatccGtcgcccactgcgtgtactct	6	19	2	0	rs1141814		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:155209725G>A	ENST00000428024.3	-	0	337				GBA_ENST00000327247.5_Missense_Mutation_p.R87W|GBA_ENST00000427500.3_Missense_Mutation_p.R87W|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000368373.3_Missense_Mutation_p.R87W|GBA_ENST00000536770.1_Intron	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid						carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	AGCTCCATCCGTCGCCCACTG	0.592									Gaucher disease type I				False	0	False	1:155209725	0	A	155209725	G	A	155209725	1	1	45	1	0	0	0	0	0	0	0	0	6309	1144	40	1		1	GBA	1	155209725	Translation_Start_Site	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	2538210	155209725	94040896	7	3658											
CRB1	23418	broad.mit.edu	37	chr1	197313436	197313436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgtgaattggaaattgaCgaatgttggtcccagccttg	11	7	0	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:197313436C>T	ENST00000367400.3	+	3	813	c.678C>T	c.(676-678)gaC>gaT	p.D226D	CRB1_ENST00000538660.1_Silent_p.D226D|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Silent_p.D157D	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	226	EGF-like 6; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGGAAATTGACGAATGTTGGT	0.418													False	0	False	1:197313436	0	T	197313436	C	T	197313436	2	4	45	1	0	0	0	0	0	0	0	1	3871	535	19	1		1	CRB1	1	197313436	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	42103711	197313436	51937185	8	3659											
LBR	3930	broad.mit.edu	37	chr1	225611758	225611758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttaccacttcaccatcgGcaaatttcctacttggcatt	4	14	2	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr1:225611758G>A	ENST00000338179.2	-	2	145	c.20C>T	c.(19-21)gCc>gTc	p.A7V	LBR_ENST00000272163.4_Missense_Mutation_p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	7	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTCACCATCGGCAAATTTCCT	0.373													False	0	False	1:225611758	0	A	225611758	G	A	225611758	3	1	45	1	0	0	0	0	1	0	0	0	8703	1203	42	2	1879	2	LBR	1	225611758	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	28298322	225611758	23638863	9	3660											
ITSN2	50618	broad.mit.edu	37	chr2	24432754	24432754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcagagccagaggaaacaGcaaactgcttgaccatgtag	10	10	1	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:24432754G>A	ENST00000355123.4	-	35	4849	c.4406C>T	c.(4405-4407)gCt>gTt	p.A1469V	ITSN2_ENST00000361999.3_Missense_Mutation_p.A1442V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1469	PH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGAAACAGCAAACTGCTT	0.448													False	0	False	2:24432754	0	A	24432754	G	A	24432754	3	1	45	1	0	0	0	0	1	0	0	0	7977	971	34	2	711	2	ITSN2	2	24432754	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		24432754	218766619	10	3661											
EHBP1	23301	broad.mit.edu	37	chr2	63223823	63223823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtagtaggagaattggcaGcactagagaatgagcaaaag	13	4	0	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:63223823G>A	ENST00000263991.5	+	21	3720	c.3238G>A	c.(3238-3240)Gca>Aca	p.A1080T	EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.A1009T|EHBP1_ENST00000354487.3_Missense_Mutation_p.A1045T|EHBP1_ENST00000405289.1_Missense_Mutation_p.A1045T|EHBP1_ENST00000431489.1_Missense_Mutation_p.A1009T	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1080						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGAATTGGCAGCACTAGAGAA	0.443													False	0	False	2:63223823	0	A	63223823	G	A	63223823	3	1	45	1	0	0	0	0	1	0	0	0	5005	971	34	2	3316	2	EHBP1	2	63223823	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	38791069	63223823	179975550	11	3662											
TCF7L1	83439	broad.mit.edu	37	chr2	85532397	85532397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagcctggtctccagtcGgttctctcctcacatggtgg	11	14	3	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:85532397G>A	ENST00000282111.3	+	8	1135	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	287	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						GTCTCCAGTCGGTTCTCTCCT	0.627													False	0	False	2:85532397	0	A	85532397	G	A	85532397	3	1	45	1	0	0	0	0	1	0	0	0	15779	1116	39	1	890	1	TCF7L1	2	85532397	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	22308574	85532397	157666976	12	3663											
CD8B	926	broad.mit.edu	37	chr2	87085431	87085431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtctcagccagtagatgCgcatgttactgagggagatt	13	8	1	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:87085431C>T	ENST00000390655.6	-	2	210	c.152G>A	c.(151-153)cGc>cAc	p.R51H	CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Missense_Mutation_p.R51H|CD8B_ENST00000349455.3_Missense_Mutation_p.R51H|CD8B_ENST00000331469.2_Missense_Mutation_p.R51H|CD8B_ENST00000393759.2_Missense_Mutation_p.R51H	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	51	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CCAGTAGATGCGCATGTTACT	0.552													False	0	False	2:87085431	0	T	87085431	C	T	87085431	3	4	45	1	0	0	0	0	1	0	0	0	3068	768	27	1	774	1	CD8B	2	87085431	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	1553034	87085431	156113942	13	3664											
RBM45	129831	broad.mit.edu	37	chr2	178990889	178990889	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagaagaatctaacaaacggCaaagaacttactgattcttg	8	7	2	4			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:178990889C>G	ENST00000286070.5	+	9	1503	c.1411C>G	c.(1411-1413)Caa>Gaa	p.Q471E	RBM45_ENST00000464647.1_3'UTR	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	473					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TAACAAACGGCAAAGAACTTA	0.348													False	0	True	2:178990889	0	G	178990889	C	G	178990889	3	3	45	1	0	0	0	0	1	0	0	0	13218	711	25	5	1445	5	RBM45	2	178990889	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	91905458	178990889	64208484	14	3665											
DNAH7	56171	broad.mit.edu	37	chr2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcccagtgcctggggcGcaaaccaggattacagatca	12	13	1	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R850C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCCTGGGGCGCAAACCAGGA	0.453													False	0	False	2:196825327	0	A	196825327	G	A	196825327	3	1	45	1	0	0	0	0	1	0	0	0	4636	1087	38	1	9718	1	DNAH7	2	196825327	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	17834438	196825327	46374046	15	3666											
RHOA	387	broad.mit.edu	37	chr3	49412957	49412957	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtccttgctgaagactatGagcaagcatgtctttccaca	9	10	1	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr3:49412957G>A	ENST00000418115.1	-	2	450	c.66C>T	c.(64-66)ctC>ctT	p.L22L	RHOA_ENST00000454011.2_Silent_p.L22L|RHOA_ENST00000422781.1_Silent_p.L22L	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	22					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TGAAGACTATGAGCAAGCATG	0.473													False	0	True	3:49412957	0	A	49412957	G	A	49412957	2	1	45	1	0	0	0	0	0	0	0	1	13410	1277	45	2		2	RHOA	3	49412957	Silent	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		49412957	148609473	16	3667											
TRAT1	50852	broad.mit.edu	37	chr3	108572493	108572493	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgaaacacagatgtgctaCgcctcacttgatcacagcgt	8	11	2	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr3:108572493C>A	ENST00000295756.6	+	6	560	c.330C>A	c.(328-330)taC>taA	p.Y110*	TRAT1_ENST00000426646.1_Nonsense_Mutation_p.Y73*	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	110					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGATGTGCTACGCCTCACTTG	0.413													False	0	False	3:108572493	0	A	108572493	C	A	108572493	4	1	45	1	0	0	0	0	0	1	0	0	16549	547	19	3	352	3	TRAT1	3	108572493	Nonsense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	59159536	108572493	89449937	17	3668											
HS3ST1	9957	broad.mit.edu	37	chr4	11401393	11401393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttctccgcggccgccacGtcggggtgcaggctgagcat	15	14	1	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr4:11401393G>A	ENST00000002596.5	-	2	1411	c.237C>T	c.(235-237)gaC>gaT	p.D79D		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	79						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.D79D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CGGCCGCCACGTCGGGGTGCA	0.662													False	0	False	4:11401393	0	A	11401393	G	A	11401393	2	1	45	1	0	0	0	0	0	0	0	1	7410	1136	40	1		1	HS3ST1	4	11401393	Silent	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		11401393	179752883	18	3669											
PROL1	58503	broad.mit.edu	37	chr4	71275677	71275677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcaaattctcgccaaccGtcctcacacagtattgctca	4	15	4	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr4:71275677G>A	ENST00000399575.2	+	3	806	c.632G>A	c.(631-633)cGt>cAt	p.R211H		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	211	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTCGCCAACCGTCCTCACACA	0.448													False	0	False	4:71275677	0	A	71275677	G	A	71275677	3	1	45	1	0	0	0	0	1	0	0	0	12630	1145	40	1	638	1	PROL1	4	71275677	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	59874284	71275677	119878599	19	3670											
C5orf34	375444	broad.mit.edu	37	chr5	43508741	43508741	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagtagctgaagagtttcGaaaatctagggctcgctgta	12	7	1	2	rs143336043		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:43508741G>A	ENST00000306862.2	-	3	598	c.223C>T	c.(223-225)Cga>Tga	p.R75*	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	75								p.R75*(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GAAGAGTTTCGAAAATCTAGG	0.289													False	0	True	5:43508741	0	A	43508741	G	A	43508741	4	1	45	1	0	0	0	0	0	1	0	0	2310	1066	37	1	1737	1	C5orf34	5	43508741	Nonsense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		43508741	137406519	20	3671											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	45	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-FB-AAPZ-01A-11D-A40W-08	35101703	78610444	102304816	21	3672											
MEF2C	4208	broad.mit.edu	37	chr5	88027589	88027589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctggtggaataagaactCggagatctggtttacggtta	13	6	1	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:88027589C>T	ENST00000504921.2	-	7	1439	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	MEF2C_ENST00000510942.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000424173.2_Missense_Mutation_p.R254Q|MEF2C_ENST00000508569.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000539796.1_Missense_Mutation_p.R208Q|MEF2C_ENST00000340208.5_Missense_Mutation_p.R274Q|MEF2C_ENST00000514028.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000506554.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000437473.2_Missense_Mutation_p.R256Q|MEF2C_ENST00000514015.1_Missense_Mutation_p.R256Q			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	256					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R256L(2)|p.R254L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AATAAGAACTCGGAGATCTGG	0.378										HNSCC(66;0.2)			False	0	False	5:88027589	0	T	88027589	C	T	88027589	3	4	45	1	0	0	0	0	1	0	0	0	9524	884	31	1	674	1	MEF2C	5	88027589	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	9417145	88027589	92887671	22	3673											
ADAMTS19	171019	broad.mit.edu	37	chr5	129039960	129039960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgtggcaaaggcatacGtcatcggaccgttagatgta	12	8	1	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:129039960G>A	ENST00000274487.4	+	21	3315	c.3170G>A	c.(3169-3171)cGt>cAt	p.R1057H	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1057	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAGGCATACGTCATCGGACC	0.423													False	0	False	5:129039960	0	A	129039960	G	A	129039960	3	1	45	1	0	0	0	0	1	0	0	0	264	1145	40	1	3252	1	ADAMTS19	5	129039960	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	41012371	129039960	51875300	23	3674											
KCTD16	57528	broad.mit.edu	37	chr5	143853641	143853641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgagagaaaacatccTtggcaatctgaacttttaag	7	8	1	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr5:143853641T>C	ENST00000507359.3	+	3	2342	c.1251T>C	c.(1249-1251)ccT>ccC	p.P417P	KCTD16_ENST00000512467.1_Silent_p.P417P	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16							cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GAAAACATCCTTGGCAATCTG	0.378													False	0	False	5:143853641	0	C	143853641	T	C	143853641	2	2	45	1	0	0	0	0	0	0	0	1	8153	1596	56	4		4	KCTD16	5	143853641	Silent	SNP	T	TCGA-FB-AAPZ-01A-11D-A40W-08	14813681	143853641	37061619	24	3675											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	45	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-FB-AAPZ-01A-11D-A40W-08		7393450	163721617	25	3676											
ENPP4	22875	broad.mit.edu	37	chr6	46108833	46108833	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaactgtagccctcatAtgaatgtttatctcaaagaa	6	7	2	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:46108833A>C	ENST00000321037.4	+	3	1101	c.871A>C	c.(871-873)Atg>Ctg	p.M291L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	291						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAGCCCTCATATGAATGTTTA	0.323													False	0	False	6:46108833	0	C	46108833	A	C	46108833	3	2	45	1	0	0	0	0	1	0	0	0	5164	449	16	4	877	4	ENPP4	6	46108833	Missense_Mutation	SNP	A	TCGA-FB-AAPZ-01A-11D-A40W-08	38715383	46108833	125006234	26	3677											
HEY2	23493	broad.mit.edu	37	chr6	126080635	126080635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggccacgtttgcccatgCggattcagccctccgaatgc	10	16	1	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:126080635C>T	ENST00000368364.3	+	5	898	c.701C>T	c.(700-702)gCg>gTg	p.A234V	HEY2_ENST00000368365.1_Missense_Mutation_p.A188V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	234					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TTTGCCCATGCGGATTCAGCC	0.647													False	0	False	6:126080635	0	T	126080635	C	T	126080635	3	4	45	1	0	0	0	0	1	0	0	0	7126	768	27	1	719	1	HEY2	6	126080635	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	79971802	126080635	45034432	27	3678											
PEX7	5191	broad.mit.edu	37	chr6	137193340	137193340	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttttttttttgtagttttCaccatttcatgcttctgtgc	5	8	3	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:137193340C>T	ENST00000318471.4	+	8	833	c.752C>T	c.(751-753)tCa>tTa	p.S251L	PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	251					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TTGTAGTTTTCACCATTTCAT	0.303													False	0	True	6:137193340	0	T	137193340	C	T	137193340	3	4	45	1	0	0	0	0	1	0	0	0	11820	838	29	2	782	2	PEX7	6	137193340	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	11112705	137193340	33921727	28	3679											
IYD	389434	broad.mit.edu	37	chr6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagtacatggtttcgccGcaaatggcaagaaaaaagtc	9	8	0	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433													False	0	False	6:150715311	0	A	150715311	G	A	150715311	3	1	45	1	0	0	0	0	1	0	0	0	7982	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	13521971	150715311	20399756	29	3680											
SEPT7	989	broad.mit.edu	37	chr7	35923505	35923505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactttgttttataggaccGtttacctcttgctgtggtag	9	7	1	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:35923505G>A	ENST00000494488.2	+	8	686	c.686G>A	c.(685-687)cGt>cAt	p.R229H	SEPT7_ENST00000435235.1_Missense_Mutation_p.R190H|SEPT7_ENST00000399034.2_Missense_Mutation_p.R244H|SEPT7_ENST00000399035.3_Missense_Mutation_p.R242H|SEPT7_ENST00000469679.2_Intron|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000350320.6_Missense_Mutation_p.R242H			Q16181	SEPT7_HUMAN	septin 7	243					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TTATAGGACCGTTTACCTCTT	0.358													False	0	True	7:35923505	0	A	35923505	G	A	35923505	3	1	45	1	0	0	0	0	1	0	0	0	14150	1145	40	1	756	1	SEPT7	7	35923505	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		35923505	123215158	30	3681											
PKD1L1	168507	broad.mit.edu	37	chr7	47933504	47933504	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccagggtcgtcagggtcGaaggactgggtccctctgag	16	12	2	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:47933504G>A	ENST00000289672.2	-	15	2474	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	808	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGTCAGGGTCGAAGGACTGGG	0.617													False	0	False	7:47933504	0	A	47933504	G	A	47933504	2	1	45	1	0	0	0	0	0	0	0	1	12033	1049	37	1		1	PKD1L1	7	47933504	Silent	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	12009999	47933504	111205159	31	3682											
SUMF2	25870	broad.mit.edu	37	chr7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaagagtgggagtttgCcgcccgagggggcttgaagg	21	6	0	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:56142409C>T	ENST00000434526.2	+	5	603	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	172						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	7:56142409	0	T	56142409	C	T	56142409	3	4	45	1	0	0	0	0	1	0	0	0	15468	739	26	2	590	2	SUMF2	7	56142409	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	8208905	56142409	102996254	32	3683											
COL1A2	1278	broad.mit.edu	37	chr7	94042405	94042405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttactctagggtgatcctgGcaaaaacggtgataaaggtc	11	7	1	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr7:94042405G>A	ENST00000297268.6	+	26	1985	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	505					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGATCCTGGCAAAAACGGT	0.398										HNSCC(75;0.22)			False	0	False	7:94042405	0	A	94042405	G	A	94042405	3	1	45	1	0	0	0	0	1	0	0	0	3701	1203	42	2	1616	2	COL1A2	7	94042405	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	37899996	94042405	65096258	33	3684											
ALDOB	229	broad.mit.edu	37	chr9	104187206	104187206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccagtgcactggcctgCagggcccgtccataagagaa	13	13	0	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr9:104187206C>T	ENST00000374855.4	-	8	1042	c.918G>A	c.(916-918)ctG>ctA	p.L306L		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	306					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CACTGGCCTGCAGGGCCCGTC	0.552													False	0	False	9:104187206	0	T	104187206	C	T	104187206	2	4	45	1	0	0	0	0	0	0	0	1	508	697	25	2		2	ALDOB	9	104187206	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08		104187206	37026225	34	3685											
TACC2	10579	broad.mit.edu	37	chr10	123988930	123988931	+	Frame_Shift_Del	DEL	TG	TG	-													tagctcaccccgtctctctcTgtggtgcacttgactatctg					rs138735982	byFrequency	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr10:123988930_123988931delTG	ENST00000369005.1	+	15	8306_8307	c.7966_7967delTG	c.(7966-7968)tgtfs	p.C2656fs	TACC2_ENST00000369004.3_Frame_Shift_Del_p.C746fs|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000334433.3_Frame_Shift_Del_p.C2656fs|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000358010.1_Frame_Shift_Del_p.C802fs|TACC2_ENST00000260733.3_Frame_Shift_Del_p.C734fs|TACC2_ENST00000513429.1_Frame_Shift_Del_p.C802fs|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000360561.3_Frame_Shift_Del_p.C734fs|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000368999.1_Frame_Shift_Del_p.C746fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2656						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGTCTCTCTCTGTGGTGCACTT	0.574													False	2	True	10:123988930	0	-	123988931	TG	-	123988930	7	5	45	1	0	1	0	1	0	0	0	0	15584	1580	55	0	8092	0	TACC2	10	123988930	Frame_Shift_Del	DEL	TG	TCGA-FB-AAPZ-01A-11D-A40W-08		123988930	11545817	35	3686											
HTRA1	5654	broad.mit.edu	37	chr10	124266340	124266340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaccacccagcgaggcgGcaaagagctggggctccgca	15	14	0	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr10:124266340G>A	ENST00000368984.3	+	4	1039	c.911G>A	c.(910-912)gGc>gAc	p.G304D		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	304	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CAGCGAGGCGGCAAAGAGCTG	0.617													False	0	False	10:124266340	0	A	124266340	G	A	124266340	3	1	45	1	0	0	0	0	1	0	0	0	7503	1203	42	2	925	2	HTRA1	10	124266340	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	277410	124266340	11268407	36	3687											
MKI67	4288	broad.mit.edu	37	chr10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcctgctggtttgggcGtaagcatggctttccctgct	11	13	0	0	rs117795868	by1000genomes	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGCGTAAGCATGGC	0.463													False	0	False	10:129906577	0	A	129906577	G	A	129906577	3	1	45	1	0	0	0	0	1	0	0	0	9665	1145	40	1	6255	1	MKI67	10	129906577	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	5640237	129906577	5628170	37	3688											
MUC5B	727897	broad.mit.edu	37	chr11	1268736	1268736	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctccaggaccacagccacAgccacacccagcaagacccg	7	20	0	1	rs71469870		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr11:1268736A>G	ENST00000447027.1	+	31	10693	c.10635A>G	c.(10633-10635)acA>acG	p.T3545T	MUC5B_ENST00000529681.1_Silent_p.T3542T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3542	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACAGCCACAGCCACACCCA	0.687													False	0	True	11:1268736	0	G	1268736	A	G	1268736	2	3	45	1	0	0	0	0	0	0	0	1	10046	175	7	4		4	MUC5B	11	1268736	Silent	SNP	A	TCGA-FB-AAPZ-01A-11D-A40W-08		1268736	133737780	38	3689											
GLYAT	10249	broad.mit.edu	37	chr11	58477299	58477299	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgggaacatgttgcagtgtGtaactcattttttgcatagc	10	6	1	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr11:58477299G>T	ENST00000344743.3	-	6	972	c.831C>A	c.(829-831)taC>taA	p.Y277*	GLYAT_ENST00000529732.1_Nonsense_Mutation_p.Y277*	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	277					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GTTGCAGTGTGTAACTCATTT	0.463													False	0	True	11:58477299	0	T	58477299	G	T	58477299	4	4	45	1	0	0	0	0	0	1	0	0	6524	1372	48	3	63	3	GLYAT	11	58477299	Nonsense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	57208563	58477299	76529217	39	3690											
ANO1	55107	broad.mit.edu	37	chr11	69978186	69978186	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttcatggccctctgggGtaagcagggctccagagcac	13	12	3	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr11:69978186G>A	ENST00000355303.5	+	11	1563		c.e11+1		ANO1_ENST00000531349.1_Splice_Site|RP11-805J14.3_ENST00000530525.1_RNA|ANO1_ENST00000530676.1_Splice_Site|ANO1_ENST00000398543.2_Splice_Site|ANO1_ENST00000316296.5_Splice_Site|ANO1_ENST00000538023.1_Splice_Site	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel						multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GCCCTCTGGGGTAAGCAGGGC	0.597													False	0	True	11:69978186	0	A	69978186	G	A	69978186	5	1	45	1	0	0	0	0	0	0	1	0	695	1275	44	2	1301	2	ANO1	11	69978186	Splice_Site	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	11500887	69978186	65028330	40	3691											
NTF3	4908	broad.mit.edu	37	chr12	5603793	5603793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacatcacggcggaaacGgtacgcggagcataagagtc	13	10	1	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:5603793G>A	ENST00000423158.3	+	2	664	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.R138Q	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	138					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.R138Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGGCGGAAACGGTACGCGGAG	0.602													False	0	False	12:5603793	0	A	5603793	G	A	5603793	3	1	45	1	0	0	0	0	1	0	0	0	10764	1116	39	1	458	1	NTF3	12	5603793	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		5603793	128248102	41	3692											
VWF	7450	broad.mit.edu	37	chr12	6105363	6105363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaaaggtcacgatgtgCcgagtggagctgcctgtgca	13	11	2	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:6105363C>T	ENST00000261405.5	-	35	6122	c.5868G>A	c.(5866-5868)cgG>cgA	p.R1956R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1956	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACGATGTGCCGAGTGGAGC	0.522													False	0	False	12:6105363	0	T	6105363	C	T	6105363	2	4	45	1	0	0	0	0	0	0	0	1	17330	726	26	2		2	VWF	12	6105363	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	501570	6105363	127746532	42	3693											
CLEC1B	51266	broad.mit.edu	37	chr12	10147796	10147796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacctcattcgacttctggCgagataatccgacccaacga	8	13	2	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:10147796C>A	ENST00000428126.2	-	6	658	c.389G>T	c.(388-390)cGc>cTc	p.R130L	CLEC1B_ENST00000348658.4_Missense_Mutation_p.R130L|CLEC1B_ENST00000298527.6_Missense_Mutation_p.R163L			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	163	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CGACTTCTGGCGAGATAATCC	0.433													False	0	False	12:10147796	0	A	10147796	C	A	10147796	3	1	45	1	0	0	0	0	1	0	0	0	3529	768	27	3	209	3	CLEC1B	12	10147796	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	4042433	10147796	123704099	43	3694											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	45	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	15250489	25398285	108453610	44	3695											
ABCD2	225	broad.mit.edu	37	chr12	40012541	40012541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattctcgagtgcacataccGcaaatagccttttctatgtg	7	10	2	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr12:40012541G>A	ENST00000308666.3	-	1	1012	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	293	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TGCACATACCGCAAATAGCCT	0.413													False	0	False	12:40012541	0	A	40012541	G	A	40012541	3	1	45	1	0	0	0	0	1	0	0	0	61	1086	38	1	1385	1	ABCD2	12	40012541	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	14614256	40012541	93839354	45	3696											
SKA3	221150	broad.mit.edu	37	chr13	21742393	21742393	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccgctcaagtccaaaatcTgaaagttgtggactacgtgg	10	9	2	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr13:21742393T>A	ENST00000314759.5	-	4	601	c.477A>T	c.(475-477)tcA>tcT	p.S159S	SKA3_ENST00000400018.3_Silent_p.S159S	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	159					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCCAAAATCTGAAAGTTGTG	0.438													False	0	False	13:21742393	0	A	21742393	T	A	21742393	2	1	45	1	0	0	0	0	0	0	0	1	14435	1567	55	5		5	SKA3	13	21742393	Silent	SNP	T	TCGA-FB-AAPZ-01A-11D-A40W-08		21742393	93427485	46	3697											
OR4Q3	441669	broad.mit.edu	37	chr14	20215715	20215715	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctattgtcctgggaaacctCttgatagtggtaacagtgca	11	8	1	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:20215715C>A	ENST00000331723.1	+	1	129	c.129C>A	c.(127-129)ctC>ctA	p.L43L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGAAACCTCTTGATAGTGG	0.408													False	0	False	14:20215715	0	A	20215715	C	A	20215715	2	1	45	1	0	0	0	0	0	0	0	1	11149	900	32	3		3	OR4Q3	14	20215715	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08		20215715	87133825	47	3698											
SYNE2	23224	broad.mit.edu	37	chr14	64681074	64681074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcacgagcggtctggctgcGagacccctgtcagcgtggac	16	13	2	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:64681074G>A	ENST00000357395.3	+	107	19518	c.8374G>A	c.(8374-8376)Gag>Aag	p.E2792K	SYNE2_ENST00000458046.2_Missense_Mutation_p.E41K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2792K|SYNE2_ENST00000555022.1_Missense_Mutation_p.E285K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6407K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3041K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6407K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6349K|SYNE2_ENST00000554805.1_Missense_Mutation_p.E190K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6407					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTCTGGCTGCGAGACCCCTGT	0.632													False	0	False	14:64681074	0	A	64681074	G	A	64681074	3	1	45	1	0	0	0	0	1	0	0	0	15528	1059	37	1	19637	1	SYNE2	14	64681074	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	44465359	64681074	42668466	48	3699											
NRXN3	9369	broad.mit.edu	37	chr14	79175640	79175640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaagatgaaaatctatggCgaagttgtgtttaagtgtga	11	4	1	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:79175640C>T	ENST00000554719.1	+	4	674	c.183C>T	c.(181-183)ggC>ggT	p.G61G	NRXN3_ENST00000335750.5_Silent_p.G61G|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane		p.G61G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAATCTATGGCGAAGTTGTGT	0.468													False	0	False	14:79175640	0	T	79175640	C	T	79175640	2	4	45	1	0	0	0	0	0	0	0	1	10735	755	27	1		1	NRXN3	14	79175640	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	14494566	79175640	28173900	49	3700											
BEGAIN	57596	broad.mit.edu	37	chr14	101004539	101004539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgtccccgtcccccccctCgctgggtgcatagccgggca	11	20	0	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr14:101004539C>T	ENST00000556751.1	-	5	4761	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	BEGAIN_ENST00000443071.2_Missense_Mutation_p.E517K|BEGAIN_ENST00000355173.2_Missense_Mutation_p.E517K			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	517						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCCCCCCCCTCGCTGGGTGCA	0.731													False	0	False	14:101004539	0	T	101004539	C	T	101004539	3	4	45	1	0	0	0	0	1	0	0	0	1401	893	31	1	236	1	BEGAIN	14	101004539	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	21828899	101004539	6345001	50	3701											
ATP10A	57194	broad.mit.edu	37	chr15	25924552	25924552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggcccttgaagtcctgatCggcctgagtggggctggaca	15	11	0	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr15:25924552C>T	ENST00000356865.6	-	21	4547	c.4436G>A	c.(4435-4437)cGa>cAa	p.R1479Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1479					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AAGTCCTGATCGGCCTGAGTG	0.512													False	0	False	15:25924552	0	T	25924552	C	T	25924552	3	4	45	1	0	0	0	0	1	0	0	0	1120	884	31	1	67	1	ATP10A	15	25924552	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08		25924552	76606840	51	3702											
FEM1B	10116	broad.mit.edu	37	chr15	68570843	68570843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctcaaccggtctgaaAgcgacatccgctatctgctt	8	13	3	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr15:68570843A>G	ENST00000306917.4	+	1	703	c.88A>G	c.(88-90)Agc>Ggc	p.S30G		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	30					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCGGTCTGAAAGCGACATCCG	0.632													False	0	True	15:68570843	0	G	68570843	A	G	68570843	3	3	45	1	0	0	0	0	1	0	0	0	5850	72	3	4	90	4	FEM1B	15	68570843	Missense_Mutation	SNP	A	TCGA-FB-AAPZ-01A-11D-A40W-08	42646291	68570843	33960549	52	3703											
PDXDC1	23042	broad.mit.edu	37	chr16	15116567	15116567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcatttgcagagtcaaCggttgcaggaaagtttgaag	12	5	2	2	rs151168975	by1000genomes	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:15116567C>T	ENST00000396410.4	+	13	1193	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384W|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351W|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366W|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338W|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275W|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339W|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343W	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	366					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	p.R366W(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCAGAGTCAACGGTTGCAGGA	0.368													False	0	False	16:15116567	0	T	15116567	C	T	15116567	3	4	45	1	0	0	0	0	1	0	0	0	11764	527	19	1	1146	1	PDXDC1	16	15116567	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08		15116567	75238186	53	3704											
ACSM3	6296	broad.mit.edu	37	chr16	20781387	20781387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcaccaggaagatgctaCgtcatgccaagtgttttcag	11	9	3	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:20781387C>T	ENST00000289416.5	+	2	506	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	ACSM3_ENST00000440284.2_Missense_Mutation_p.R11C	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	11					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GAAGATGCTACGTCATGCCAA	0.438													False	0	False	16:20781387	0	T	20781387	C	T	20781387	3	4	45	1	0	0	0	0	1	0	0	0	185	536	19	1	33	1	ACSM3	16	20781387	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	5664820	20781387	69573366	54	3705											
CDIPT	10423	broad.mit.edu	37	chr16	29872467	29872467	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggccacatccaaactcaTgctgatttggaagaacagcg	9	11	1	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:29872467T>C	ENST00000219789.6	-	3	1170	c.292A>G	c.(292-294)Atg>Gtg	p.M98V	CDIPT_ENST00000561555.1_Missense_Mutation_p.M122V|CDIPT_ENST00000570016.1_Missense_Mutation_p.M98V|CDIPT_ENST00000569956.1_Missense_Mutation_p.M98V|CDIPT_ENST00000566113.1_Missense_Mutation_p.M53V|CDIPT_ENST00000563415.1_Missense_Mutation_p.M98V	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	98						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity			endometrium(1)|lung(3)	4						TCCAAACTCATGCTGATTTGG	0.607													False	0	False	16:29872467	0	C	29872467	T	C	29872467	3	2	45	1	0	0	0	0	1	0	0	0	3146	1464	51	4	365	4	CDIPT	16	29872467	Missense_Mutation	SNP	T	TCGA-FB-AAPZ-01A-11D-A40W-08	9091080	29872467	60482286	55	3706											
ZNF48	197407	broad.mit.edu	37	chr16	30410328	30410328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggtgacagttctgcccGcatcaagcaccagcgtgggc	12	12	2	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:30410328G>A	ENST00000320159.2	+	2	2133	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGTTCTGCCCGCATCAAGCAC	0.592													False	0	True	16:30410328	0	A	30410328	G	A	30410328	3	1	45	1	0	0	0	0	1	0	0	0	18017	1087	38	1	1763	1	ZNF48	16	30410328	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	537861	30410328	59944425	56	3707											
ADAMTS18	170692	broad.mit.edu	37	chr16	77327045	77327045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcacacagccctcctgCagctcaggtctggggagact	11	15	2	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr16:77327045C>T	ENST00000282849.5	-	20	3535	c.3117G>A	c.(3115-3117)ctG>ctA	p.L1039L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1039	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGCCCTCCTGCAGCTCAGGTC	0.607													False	0	False	16:77327045	0	T	77327045	C	T	77327045	2	4	45	1	0	0	0	0	0	0	0	1	263	697	25	2		2	ADAMTS18	16	77327045	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	46916717	77327045	13027708	57	3708											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		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)			False	0	True	17:7578212	0	A	7578212	G	A	7578212	4	1	45	1	0	0	0	0	0	1	0	0	16464	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		7578212	73616998	58	3709											
ELAC2	60528	broad.mit.edu	37	chr17	12898183	12898183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgcatgcttgcagtgccGcaccagacaggtctgaaact	10	12	1	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr17:12898183G>A	ENST00000338034.4	-	21	2166	c.1927C>T	c.(1927-1929)Cgg>Tgg	p.R643W	ELAC2_ENST00000426905.3_Missense_Mutation_p.R603W|ELAC2_ENST00000395962.2_Missense_Mutation_p.R624W	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	643					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TTGCAGTGCCGCACCAGACAG	0.632													False	0	False	17:12898183	0	A	12898183	G	A	12898183	3	1	45	1	0	0	0	0	1	0	0	0	5079	1086	38	1	569	1	ELAC2	17	12898183	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	5319971	12898183	68297027	59	3710											
MYOM1	8736	broad.mit.edu	37	chr18	3086037	3086046	+	Splice_Site	DEL	TCTGTTATAA	TCTGTTATAA	-													tacatttataatcgcctaccTctgttataagcagggtacat					rs146346828	by1000genomes	TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	TCTGTTATAA	TCTGTTATAA	-	-	TCTGTTATAA	TCTGTTATAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr18:3086037_3086046delTCTGTTATAA	ENST00000356443.4	-	30	4574_4583	c.4241_4250delTTATAACAGA	c.(4240-4251)cttataacagag>cg	p.LITE1414fs	MYOM1_ENST00000261606.7_Splice_Site_p.LITE1318fs|MYOM1_ENST00000400569.3_Splice_Site_p.LITE1414fs	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1414	Ig-like C2-type 4.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATCGCCTACCTCTGTTATAAGCAGGGTACA	0.371													False	1	False	18:3086037	0	-	3086046	TCTGTTATAA	-	3086037	8	5	45	1	0	1	0	1	0	0	1	0	10158	1565	54	0	843	0	MYOM1	18	3086037	Splice_Site	DEL	TCTGTTATAA	TCGA-FB-AAPZ-01A-11D-A40W-08		3086037	74991211	60	3711											
ROCK1	6093	broad.mit.edu	37	chr18	18625398	18625398	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtattccatcaccatgtagaGataacgatcatcttggaatg	8	8	3	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr18:18625398G>A	ENST00000399799.2	-	5	1385	c.445C>T	c.(445-447)Ctc>Ttc	p.L149F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ACCATGTAGAGATAACGATCA	0.328													False	0	False	18:18625398	0	A	18625398	G	A	18625398	3	1	45	1	0	0	0	0	1	0	0	0	13596	942	33	2	3735	2	ROCK1	18	18625398	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	15539361	18625398	59451850	61	3712											
RNF165	494470	broad.mit.edu	37	chr18	44030346	44030346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagacacacctccgccGtacgggagagctatgaggta	12	13	0	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr18:44030346G>A	ENST00000269439.7	+	5	754	c.703G>A	c.(703-705)Gta>Ata	p.V235I	RNF165_ENST00000543885.1_Missense_Mutation_p.V43I	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	235							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CACCTCCGCCGTACGGGAGAG	0.522													False	0	False	18:44030346	0	A	44030346	G	A	44030346	3	1	45	1	0	0	0	0	1	0	0	0	13535	1145	40	1	721	1	RNF165	18	44030346	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	25404948	44030346	34046902	62	3713											
ZNF546	339327	broad.mit.edu	37	chr19	40520572	40520572	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatagaactcatactggTgagaaaccctatgaatgtaa	7	8	2	3			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:40520572T>C	ENST00000347077.4	+	7	1611	c.1395T>C	c.(1393-1395)ggT>ggC	p.G465G	ZNF546_ENST00000600094.1_Silent_p.G439G|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCATACTGGTGAGAAACCCT	0.403													False	0	False	19:40520572	0	C	40520572	T	C	40520572	2	2	45	1	0	0	0	0	0	0	0	1	18061	1683	59	4		4	ZNF546	19	40520572	Silent	SNP	T	TCGA-FB-AAPZ-01A-11D-A40W-08		40520572	18608411	63	3714											
PSG8	0	broad.mit.edu	37	chr19	43259170	43259170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgactgggtaactgcGgatgccaccatattggtccc	13	11	0	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:43259170G>A	ENST00000404209.4	-	4	1054	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	PSG8_ENST00000401467.2_Missense_Mutation_p.R227C|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.R320C|PSG8_ENST00000406636.3_Missense_Mutation_p.R198C	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	320	Ig-like C2-type 2.					extracellular region		p.R320C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGTAACTGCGGATGCCACCA	0.483													False	0	False	19:43259170	0	A	43259170	G	A	43259170	3	1	45	1	0	0	0	0	1	0	0	0	12737	1116	39	1	351	1	PSG8	19	43259170	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	2738598	43259170	15869813	64	3715											
PSG11	5680	broad.mit.edu	37	chr19	43523094	43523094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaccattcatccaccaCaggtagcttgcgtccggagt	9	14	2	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:43523094C>T	ENST00000401740.1	-	3	640	c.537G>A	c.(535-537)ctG>ctA	p.L179L	PSG11_ENST00000306322.7_Silent_p.L57L|PSG11_ENST00000320078.7_Silent_p.L179L|PSG11_ENST00000403486.1_Silent_p.L57L|PSG11_ENST00000595312.1_5'UTR			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	179	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCATCCACCACAGGTAGCTTG	0.512													False	0	False	19:43523094	0	T	43523094	C	T	43523094	2	4	45	1	0	0	0	0	0	0	0	1	12730	465	17	2		2	PSG11	19	43523094	Silent	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08	263924	43523094	15605889	65	3716											
TNNI3	7137	broad.mit.edu	37	chr19	55665406	55665406	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccacactcaccttctcggTgtcctccttcttcacctgct	5	19	4	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:55665406T>G	ENST00000344887.5	-	7	683	c.541A>C	c.(541-543)Acc>Ccc	p.T181P	TNNI3_ENST00000588882.1_Missense_Mutation_p.T156P	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	181					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACCTTCTCGGTGTCCTCCTTC	0.627													False	0	False	19:55665406	0	G	55665406	T	G	55665406	3	3	45	1	0	0	0	0	1	0	0	0	16410	1696	59	4	99	4	TNNI3	19	55665406	Missense_Mutation	SNP	T	TCGA-FB-AAPZ-01A-11D-A40W-08	12142312	55665406	3463577	66	3717											
ZNF132	7691	broad.mit.edu	37	chr19	58944797	58944797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgtgaactttctggtgccGaacaagtgtagatctttcac	11	8	3	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr19:58944797G>A	ENST00000254166.3	-	3	2414	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	672						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTCTGGTGCCGAACAAGTGTA	0.448													False	0	False	19:58944797	0	A	58944797	G	A	58944797	3	1	45	1	0	0	0	0	1	0	0	0	17805	1057	37	1	110	1	ZNF132	19	58944797	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	3279391	58944797	184186	67	3718											
PHACTR3	116154	broad.mit.edu	37	chr20	58381152	58381152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgaagctaaggaaccggCcaagcaaacaggaactagaa	11	10	0	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr20:58381152C>T	ENST00000371015.1	+	8	1698	c.1231C>T	c.(1231-1233)Cca>Tca	p.P411S	PHACTR3_ENST00000541461.1_Missense_Mutation_p.P370S|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P300S|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P300S|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P408S|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P370S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P370S	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	411						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGGAACCGGCCAAGCAAACA	0.512													False	0	False	20:58381152	0	T	58381152	C	T	58381152	3	4	45	1	0	0	0	0	1	0	0	0	11880	739	26	2	1261	2	PHACTR3	20	58381152	Missense_Mutation	SNP	C	TCGA-FB-AAPZ-01A-11D-A40W-08		58381152	4644368	68	3719											
APP	351	broad.mit.edu	37	chr21	27327982	27327982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttgggatccaccatgcGcacatgctcgaaatgcttta	8	11	1	0			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr21:27327982G>A	ENST00000358918.3	-	12	1745	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	APP_ENST00000354192.3_Missense_Mutation_p.R385C|APP_ENST00000346798.3_Missense_Mutation_p.R516C|APP_ENST00000440126.3_Missense_Mutation_p.R492C|APP_ENST00000357903.3_Missense_Mutation_p.R497C|APP_ENST00000439274.2_Missense_Mutation_p.R460C|APP_ENST00000448388.2_Missense_Mutation_p.R406C|APP_ENST00000359726.3_Missense_Mutation_p.R460C|APP_ENST00000348990.5_Missense_Mutation_p.R441C	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	516	Heparin-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TCCACCATGCGCACATGCTCG	0.502													False	0	False	21:27327982	0	A	27327982	G	A	27327982	3	1	45	1	0	0	0	0	1	0	0	0	817	1087	38	1	794	1	APP	21	27327982	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08		27327982	20801913	69	3720											
DSCAM	1826	broad.mit.edu	37	chr21	42080519	42080519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgccgttggggtggacGtggcggatcccggggacatc	19	9	0	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr21:42080519G>A	ENST00000400454.1	-	2	699	c.222C>T	c.(220-222)caC>caT	p.H74H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	74	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGGGTGGACGTGGCGGATCC	0.542													False	0	False	21:42080519	0	A	42080519	G	A	42080519	2	1	45	1	0	0	0	0	0	0	0	1	4798	1136	40	1		1	DSCAM	21	42080519	Silent	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	14752537	42080519	6049376	70	3721											
MX2	4600	broad.mit.edu	37	chr21	42749046	42749046	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctcactttgaacaatcaGccaccaccaggaaacaggag	7	12	2	1	rs142593261		TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chr21:42749046G>T	ENST00000330714.3	+	2	397	c.213G>T	c.(211-213)caG>caT	p.Q71H	MX2_ENST00000543692.1_Missense_Mutation_p.Q71H	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	71					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TGAACAATCAGCCACCACCAG	0.552													False	0	True	21:42749046	0	T	42749046	G	T	42749046	3	4	45	1	0	0	0	0	1	0	0	0	10065	962	34	3	215	3	MX2	21	42749046	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	668527	42749046	5380849	71	3722											
CYBB	1536	broad.mit.edu	37	chrX	37653065	37653065	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgaaagagaataaaggTaagcctctcattatctgact	8	8	2	2			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chrX:37653065T>C	ENST00000378588.4	+	5	550		c.e5+2		TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Intron|CYBB_ENST00000545017.1_Splice_Site	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide						electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						AGAATAAAGGTAAGCCTCTCA	0.373													False	0	False	X:37653065	0	C	37653065	T	C	37653065	5	2	45	1	0	0	0	0	0	0	1	0	4158	1652	57	4	503	4	CYBB	23	37653065	Splice_Site	SNP	T	TCGA-FB-AAPZ-01A-11D-A40W-08		37653065	117617495	72	3723											
ZIC3	7547	broad.mit.edu	37	chrX	136651124	136651124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgccaacagcagcgaccGtaagaagcacatgcatgtgc	10	12	0	1			TCGA-FB-AAPZ-01A-11D-A40W-08	TCGA-FB-AAPZ-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2feaf6e8-f76a-4c02-9536-689e3ad149de	3b27aea6-7bdb-48d4-9fef-c5748fef457d	g.chrX:136651124G>A	ENST00000287538.5	+	2	1674	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	ZIC3_ENST00000370606.3_Missense_Mutation_p.R375H|ZIC3_ENST00000478471.1_3'UTR	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	375					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGCAGCGACCGTAAGAAGCAC	0.502													False	0	False	X:136651124	0	A	136651124	G	A	136651124	3	1	45	1	0	0	0	0	1	0	0	0	17763	1145	40	1	1130	1	ZIC3	23	136651124	Missense_Mutation	SNP	G	TCGA-FB-AAPZ-01A-11D-A40W-08	98998059	136651124	18619436	73	3724											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12251922	12251922	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgagcaagcaggagggGtgccggctgtgcgcgccgct	19	12	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:12251922G>T	ENST00000376259.3	+	4	488	c.399G>T	c.(397-399)ggG>ggT	p.G133G	TNFRSF1B_ENST00000536782.1_Silent_p.G133G|TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	133					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	AGCAGGAGGGGTGCCGGCTGT	0.692													False	0	True	1:12251922	0	T	12251922	G	T	12251922	2	4	46	1	0	0	0	0	0	0	0	1	16376	1248	44	3		3	TNFRSF1B	1	12251922	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		12251922	236998699	1	3725											
INADL	10207	broad.mit.edu	37	chr1	62455974	62455974	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatatttgtggtgggaAttaacccggaaggacctgct	13	7	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:62455974A>C	ENST00000371158.2	+	28	3919	c.3805A>C	c.(3805-3807)Att>Ctt	p.I1269L	INADL_ENST00000543708.1_Missense_Mutation_p.I53L|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.I1269L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1269	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGTGGTGGGAATTAACCCGGA	0.428													False	0	False	1:62455974	0	C	62455974	A	C	62455974	3	2	46	1	0	0	0	0	1	0	0	0	7781	101	4	4	3911	4	INADL	1	62455974	Missense_Mutation	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08	50204052	62455974	186794647	2	3726											
CLCA1	1179	broad.mit.edu	37	chr1	86961301	86961301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagttaacgcagccagaCggagagtgataccccagcag	14	10	0	3			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:86961301C>T	ENST00000234701.3	+	13	2407	c.2056C>T	c.(2056-2058)Cgg>Tgg	p.R686W	CLCA1_ENST00000394711.1_Missense_Mutation_p.R686W			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	686					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CGCAGCCAGACGGAGAGTGAT	0.453													False	0	False	1:86961301	0	T	86961301	C	T	86961301	3	4	46	1	0	0	0	0	1	0	0	0	3480	527	19	1	2102	1	CLCA1	1	86961301	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	24505327	86961301	162289320	3	3727											
NBPF10	100132406	broad.mit.edu	37	chr1	145324377	145324377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgctggaggtagtagCgcctgaagtcttgcaggact	16	8	1	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:145324377C>A	ENST00000342960.5	+	28	3607	c.3572C>A	c.(3571-3573)gCg>gAg	p.A1191E	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1191										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGGTAGTAGCGCCTGAAGTC	0.483													False	0	False	1:145324377	0	A	145324377	C	A	145324377	3	1	46	1	0	0	0	0	1	0	0	0	10260	768	27	3	3682	3	NBPF10	1	145324377	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	58363076	145324377	103926244	4	3728											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150527952	150527952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgccggccccgtggcttcCgcttctatgtccgtcacact	9	17	2	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:150527952C>T	ENST00000271643.4	+	8	1518	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R428C|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R428C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R451C|RP11-54A4.2_ENST00000442435.2_RNA	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	428					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGTGGCTTCCGCTTCTATGT	0.607													False	0	False	1:150527952	0	T	150527952	C	T	150527952	3	4	46	1	0	0	0	0	1	0	0	0	277	652	23	1	1304	1	ADAMTSL4	1	150527952	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	5203575	150527952	98722669	5	3729											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	46	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-FB-AAQ0-01A-31D-A40W-08	2143563	152671515	96579106	6	3730											
MEF2D	4209	broad.mit.edu	37	chr1	156437921	156437921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcataggatcccccggctGggctgctgagaccatcgcca	11	15	1	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:156437921G>A	ENST00000348159.4	-	11	1898	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	MEF2D_ENST00000340875.5_Missense_Mutation_p.P472L|MEF2D_ENST00000368240.2_Missense_Mutation_p.P466L|MEF2D_ENST00000353795.3_Missense_Mutation_p.P427L|MEF2D_ENST00000360595.3_Missense_Mutation_p.P466L|MEF2D_ENST00000464356.2_Missense_Mutation_p.P465L	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	473					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCCCCGGCTGGGCTGCTGAG	0.706													False	0	True	1:156437921	0	A	156437921	G	A	156437921	3	1	46	1	0	0	0	0	1	0	0	0	9525	1348	47	2	155	2	MEF2D	1	156437921	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	3766406	156437921	92812700	7	3731											
LHX9	56956	broad.mit.edu	37	chr1	197889248	197889248	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaagctggccctcgagtcCgagctcacctgctttgccaa	10	14	1	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:197889248C>T	ENST00000367390.3	+	3	321	c.294C>T	c.(292-294)tcC>tcT	p.S98S	LHX9_ENST00000561173.1_Silent_p.S113S|LHX9_ENST00000337020.2_Silent_p.S107S|LHX9_ENST00000367387.4_Silent_p.S107S|LHX9_ENST00000367391.1_Silent_p.S98S	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	107	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.S107S(1)|p.S98S(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CCCTCGAGTCCGAGCTCACCT	0.557													False	0	False	1:197889248	0	T	197889248	C	T	197889248	2	4	46	1	0	0	0	0	0	0	0	1	8829	639	23	1		1	LHX9	1	197889248	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	41451327	197889248	51361373	8	3732											
WNT3A	89780	broad.mit.edu	37	chr1	228238515	228238515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggggtggctgtagcgagGacatcgagtttggtgggatg	20	4	0	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:228238515G>A	ENST00000284523.1	+	3	550	c.472G>A	c.(472-474)Gac>Aac	p.D158N	WNT3A_ENST00000366753.2_Missense_Mutation_p.D158N	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	158					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTGTAGCGAGGACATCGAGTT	0.657													False	0	False	1:228238515	0	A	228238515	G	A	228238515	3	1	46	1	0	0	0	0	1	0	0	0	17473	1174	41	2	482	2	WNT3A	1	228238515	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	30349267	228238515	21012106	9	3733											
HIST3H3	8290	broad.mit.edu	37	chr1	228612733	228612733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagccccaccaggtaagaCtcgcacgcctcctgcagcgc	9	18	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:228612733C>A	ENST00000366696.1	-	1	293	c.294G>T	c.(292-294)gaG>gaT	p.E98D		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	98					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				CCAGGTAAGACTCGCACGCCT	0.602													False	0	False	1:228612733	0	A	228612733	C	A	228612733	3	1	46	1	0	0	0	0	1	0	0	0	7231	564	20	3	120	3	HIST3H3	1	228612733	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	374218	228612733	20637888	10	3734											
PLD5	200150	broad.mit.edu	37	chr1	242271086	242271086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaaggagtcgaactctaaCgcttcgtaaaactaatgctt	7	8	1	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr1:242271086C>T	ENST00000536534.2	-	8	1367	c.1126G>A	c.(1126-1128)Gtt>Att	p.V376I	PLD5_ENST00000442594.2_Missense_Mutation_p.V284I|PLD5_ENST00000427495.1_Missense_Mutation_p.V314I			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5							integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CGAACTCTAACGCTTCGTAAA	0.358													False	0	False	1:242271086	0	T	242271086	C	T	242271086	3	4	46	1	0	0	0	0	1	0	0	0	12118	536	19	1	496	1	PLD5	1	242271086	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	13658353	242271086	6979535	11	3735											
KDM3A	55818	broad.mit.edu	37	chr2	86693827	86693827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaacatgcaccttccccatCggatgtttcaaatgcaccag	7	13	1	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:86693827C>T	ENST00000409556.1	+	11	1705	c.1340C>T	c.(1339-1341)tCg>tTg	p.S447L	KDM3A_ENST00000542128.1_Missense_Mutation_p.S395L|KDM3A_ENST00000312912.5_Missense_Mutation_p.S447L|KDM3A_ENST00000409064.1_Missense_Mutation_p.S447L|KDM3A_ENST00000485171.1_3'UTR			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	447			S -> P (in dbSNP:rs34605051).		androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CCTTCCCCATCGGATGTTTCA	0.448													False	0	False	2:86693827	0	T	86693827	C	T	86693827	3	4	46	1	0	0	0	0	1	0	0	0	8176	893	31	1	1374	1	KDM3A	2	86693827	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		86693827	156505546	12	3736											
NEB	4703	broad.mit.edu	37	chr2	152376273	152376273	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttatcgaaattttctcGgtatttaacctaacagcaaa	4	8	2	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:152376273G>A	ENST00000397345.3	-	154	22691	c.22489C>T	c.(22489-22491)Cga>Tga	p.R7497*	NEB_ENST00000172853.10_Nonsense_Mutation_p.R5796*|NEB_ENST00000603639.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000427231.2_Nonsense_Mutation_p.R7497*|NEB_ENST00000604864.1_Nonsense_Mutation_p.R7497*|NEB_ENST00000409198.1_Nonsense_Mutation_p.R5796*	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	5796					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAATTTTCTCGGTATTTAACC	0.353													False	0	False	2:152376273	0	A	152376273	G	A	152376273	4	1	46	1	0	0	0	0	0	1	0	0	10370	1124	39	1	3204	1	NEB	2	152376273	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	65682446	152376273	90823100	13	3737											
TTN	7273	broad.mit.edu	37	chr2	179436797	179436797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcattctgagctgaaacacGgaaagagtattcttcaccct	7	10	4	3			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:179436797G>A	ENST00000589042.1	-	326	74286	c.74062C>T	c.(74062-74064)Cgt>Tgt	p.R24688C	TTN_ENST00000342992.6_Missense_Mutation_p.R22120C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15748C|TTN_ENST00000460472.2_Missense_Mutation_p.R15623C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15815C|TTN_ENST00000591111.1_Missense_Mutation_p.R23047C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23047	Fibronectin type-III 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGAAACACGGAAAGAGTAT	0.478													False	0	False	2:179436797	0	A	179436797	G	A	179436797	3	1	46	1	0	0	0	0	1	0	0	0	16819	1116	39	1	34065	1	TTN	2	179436797	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	27060524	179436797	63762576	14	3738											
ABCA12	26154	broad.mit.edu	37	chr2	215891634	215891634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgatatatttaagagggCatcttcaaagttttccagaa	8	6	2	3			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr2:215891634C>T	ENST00000272895.7	-	10	1309	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A46T|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	364					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTAAGAGGGCATCTTCAAAG	0.353													False	0	True	2:215891634	0	T	215891634	C	T	215891634	3	4	46	1	0	0	0	0	1	0	0	0	30	710	25	2	6873	2	ABCA12	2	215891634	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	36454837	215891634	27307739	15	3739											
CAND2	23066	broad.mit.edu	37	chr3	12869094	12869094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgggctgaaggaccactaCgacatccgggtaagaccaag	13	11	0	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:12869094C>T	ENST00000456430.2	+	13	3407	c.3366C>T	c.(3364-3366)taC>taT	p.Y1122Y	CAND2_ENST00000295989.5_Silent_p.Y1005Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1122					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGACCACTACGACATCCGGG	0.562													False	0	False	3:12869094	0	T	12869094	C	T	12869094	2	4	46	1	0	0	0	0	0	0	0	1	2636	547	19	1		1	CAND2	3	12869094	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		12869094	185153336	16	3740											
RPL32	6161	broad.mit.edu	37	chr3	12877678	12877678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttccacgatggctttgCggttcttggaggaaacattg	11	9	2	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:12877678C>T	ENST00000429711.2	-	4	422	c.323G>A	c.(322-324)cGc>cAc	p.R108H	RPL32_ENST00000396957.1_Missense_Mutation_p.R108H|RPL32_ENST00000273223.6_Missense_Mutation_p.R126H|RPL32_ENST00000396953.2_Missense_Mutation_p.R108H|RPL32_ENST00000435983.1_Missense_Mutation_p.R108H	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	108					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GATGGCTTTGCGGTTCTTGGA	0.507													False	0	False	3:12877678	0	T	12877678	C	T	12877678	3	4	46	1	0	0	0	0	1	0	0	0	13661	768	27	1	88	1	RPL32	3	12877678	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	8584	12877678	185144752	17	3741											
SLC4A7	9497	broad.mit.edu	37	chr3	27473146	27473151	+	In_Frame_Del	DEL	CTGAAA	CTGAAA	-													tcgcaaagagtggcgggaggCtgaaaggccttcccctgaga							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	CTGAAA	CTGAAA	-	-	CTGAAA	CTGAAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:27473146_27473151delCTGAAA	ENST00000295736.5	-	7	831_836	c.761_766delTTTCAG	c.(760-768)ctttcagcc>ccc	p.254_256LSA>P	SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000440156.1_In_Frame_Del_p.250_252LSA>P|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000446700.1_In_Frame_Del_p.246_248LSA>P|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000445684.1_In_Frame_Del_p.250_252LSA>P|SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000425128.2_In_Frame_Del_p.246_248LSA>P|SLC4A7_ENST00000454389.1_In_Frame_Del_p.263_265LSA>P	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	254						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TGGCGGGAGGCTGAAAGGCCTTCCCC	0.388													False	1	True	3:27473146	0	-	27473151	CTGAAA	-	27473146	7	5	46	1	0	1	0	1	0	0	0	0	14738	797	28	0	2954	0	SLC4A7	3	27473146	In_Frame_Del	DEL	CTGAAA	TCGA-FB-AAQ0-01A-31D-A40W-08	14595468	27473146	170549284	18	3742											
BAP1	8314	broad.mit.edu	37	chr3	52439281	52439281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgggatggggcttgtgCgcatgaaccagccgcctcct	15	12	0	1	rs143891879		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:52439281C>T	ENST00000460680.1	-	11	1432	c.961G>A	c.(961-963)Gca>Aca	p.A321T	BAP1_ENST00000296288.5_Missense_Mutation_p.A303T	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	321					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGGGCTTGTGCGCATGAACCA	0.597			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							False	0	False	3:52439281	0	T	52439281	C	T	52439281	3	4	46	1	0	0	0	0	1	0	0	0	1315	768	27	1	1256	1	BAP1	3	52439281	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	24966135	52439281	145583149	19	3743											
MORC1	27136	broad.mit.edu	37	chr3	108746697	108746697	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatattgtgctcatggtGcccagtgggatggaaggtag	17	5	1	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:108746697G>T	ENST00000232603.5	-	17	1687	c.1605C>A	c.(1603-1605)ggC>ggA	p.G535G	MORC1_ENST00000483760.1_Silent_p.G535G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	535					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGCTCATGGTGCCCAGTGGGA	0.398													False	0	True	3:108746697	0	T	108746697	G	T	108746697	2	4	46	1	0	0	0	0	0	0	0	1	9768	1306	46	3		3	MORC1	3	108746697	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	56307416	108746697	89275733	20	3744											
ALG1L	200810	broad.mit.edu	37	chr3	125649457	125649457	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggccattttcttcatgtttCaccagctcatgtaaactgca	6	11	4	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:125649457C>T	ENST00000340333.3	-	5	454	c.291G>A	c.(289-291)gtG>gtA	p.V97V		NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	97							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						CTTCATGTTTCACCAGCTCAT	0.597													False	0	True	3:125649457	0	T	125649457	C	T	125649457	2	4	46	1	0	0	0	0	0	0	0	1	517	813	29	2		2	ALG1L	3	125649457	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	16902760	125649457	72372973	21	3745											
CNBP	7555	broad.mit.edu	37	chr3	128889325	128889325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcaattgtgcattcccGtgcaaggtgccctgactcgc	10	14	1	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:128889325G>A	ENST00000422453.2	-	5	665	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CNBP_ENST00000441626.2_Missense_Mutation_p.R171W|CNBP_ENST00000502976.1_Missense_Mutation_p.R162W|CNBP_ENST00000504813.1_Missense_Mutation_p.R159W|CNBP_ENST00000451728.2_Missense_Mutation_p.R170W|CNBP_ENST00000446936.2_Missense_Mutation_p.R164W|CNBP_ENST00000500450.2_Missense_Mutation_p.R152W	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	169					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GTGCATTCCCGTGCAAGGTGC	0.448													False	0	True	3:128889325	0	A	128889325	G	A	128889325	3	1	46	1	0	0	0	0	1	0	0	0	3615	1144	40	1	32	1	CNBP	3	128889325	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	3239868	128889325	69133105	22	3746											
TRIM42	287015	broad.mit.edu	37	chr3	140406735	140406735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatagagaatctagaagtgtCcaggcagaaggaaattgaaa	12	4	1	4			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:140406735C>T	ENST00000286349.3	+	3	1402	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	404						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTAGAAGTGTCCAGGCAGAAG	0.433													False	0	False	3:140406735	0	T	140406735	C	T	140406735	3	4	46	1	0	0	0	0	1	0	0	0	16600	855	30	2	1221	2	TRIM42	3	140406735	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	11517410	140406735	57615695	23	3747											
DHX36	170506	broad.mit.edu	37	chr3	154018452	154018452	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaactttatcatcctccatCatttctataacatctacagt	1	12	5	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr3:154018452C>T	ENST00000496811.1	-	11	1472	c.1392G>A	c.(1390-1392)atG>atA	p.M464I	DHX36_ENST00000544526.1_Missense_Mutation_p.M464I|DHX36_ENST00000329463.5_Missense_Mutation_p.M464I|DHX36_ENST00000308361.6_Missense_Mutation_p.M464I	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	464						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CATCCTCCATCATTTCTATAA	0.313													False	0	False	3:154018452	0	T	154018452	C	T	154018452	3	4	46	1	0	0	0	0	1	0	0	0	4539	826	29	2	1694	2	DHX36	3	154018452	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	13611717	154018452	44003978	24	3748											
GBA3	57733	broad.mit.edu	37	chr4	22737642	22737642	+	RNA	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaaaggcccttgtgtctggGacacatttactcatcaggga	11	9	3	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:22737642G>T	ENST00000508166.1	+	0	199				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.2_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTGTGTCTGGGACACATTTAC	0.448													False	0	True	4:22737642	0	T	22737642	G	T	22737642	1	4	46	0	1	0	0	0	0	0	0	0	6311	1174	41	3		3	GBA3	4	22737642	RNA	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		22737642	168416634	25	3749											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	46	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-FB-AAQ0-01A-31D-A40W-08	17697063	40434705	150719571	26	3750											
GRID2	2895	broad.mit.edu	37	chr4	94376883	94376883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtggactttacgacacGttacatggactactcagtgg	12	8	1	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:94376883G>A	ENST00000282020.4	+	11	1874	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	GRID2_ENST00000510992.1_Missense_Mutation_p.R444H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	539					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTTACGACACGTTACATGGAC	0.443													False	0	False	4:94376883	0	A	94376883	G	A	94376883	3	1	46	1	0	0	0	0	1	0	0	0	6819	1145	40	1	1658	1	GRID2	4	94376883	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	53942178	94376883	96777393	27	3751											
TBC1D9	23158	broad.mit.edu	37	chr4	141543578	141543578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgtgccctggccgctcCgcaccaggaccgtgtcctct	11	20	1	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr4:141543578C>T	ENST00000442267.2	-	21	3646	c.3572G>A	c.(3571-3573)cGg>cAg	p.R1191Q		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1191						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGGCCGCTCCGCACCAGGAC	0.662													False	0	False	4:141543578	0	T	141543578	C	T	141543578	3	4	46	1	0	0	0	0	1	0	0	0	15709	652	23	1	232	1	TBC1D9	4	141543578	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	47166695	141543578	49610698	28	3752											
WDR70	55100	broad.mit.edu	37	chr5	37725121	37725121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactggatcccctgaagtcGcataaacctgaacctcctgt	8	13	0	3			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr5:37725121G>A	ENST00000265107.4	+	16	1839	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	561										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCTGAAGTCGCATAAACCTG	0.527													False	0	False	5:37725121	0	A	37725121	G	A	37725121	2	1	46	1	0	0	0	0	0	0	0	1	17405	1074	38	1		1	WDR70	5	37725121	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		37725121	143190139	29	3753											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	46	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-FB-AAQ0-01A-31D-A40W-08	40885323	78610444	102304816	30	3754											
PCDHB13	0	broad.mit.edu	37	chr5	140594777	140594777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccaatacctgagaacgCgcctgaaactgtggttgcac	10	13	0	2	rs148992616		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr5:140594777C>T	ENST00000341948.4	+	1	1269	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		361	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A361V(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGAGAACGCGCCTGAAACT	0.448													False	0	False	5:140594777	0	T	140594777	C	T	140594777	3	4	46	1	0	0	0	0	1	0	0	0	11606	768	27	1	1084	1	PCDHB13	5	140594777	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	61984333	140594777	40320483	31	3755											
TAP1	6890	broad.mit.edu	37	chr6	32820990	32820990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgccgctgcataactgaCaacgaaggcggtagggtgac	14	10	0	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:32820990C>T	ENST00000354258.4	-	1	765	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	202					antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						GCATAACTGACAACGAAGGCG	0.657													False	0	False	6:32820990	0	T	32820990	C	T	32820990	3	4	46	1	0	0	0	0	1	0	0	0	15632	478	17	2	1866	2	TAP1	6	32820990	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		32820990	138294077	32	3756											
SLC35B2	347734	broad.mit.edu	37	chr6	44223304	44223304	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagtccgtaaagcgctcAcccggtgatgtggctgtggc	15	11	1	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:44223304A>T	ENST00000393810.1	-	3	426	c.283T>A	c.(283-285)Tga>Aga	p.*95R	SLC35B2_ENST00000393812.3_Silent_p.G146G|SLC35B2_ENST00000538577.1_Silent_p.G53G|SLC35B2_ENST00000537814.1_Silent_p.G13G|SLC35B2_ENST00000495706.1_5'UTR			Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TAAAGCGCTCACCCGGTGATG	0.572													False	0	True	6:44223304	0	T	44223304	A	T	44223304	4	4	46	1	0	0	0	0	0	0	0	0	14656	146	6	5	864	5	SLC35B2	6	44223304	Nonstop_Mutation	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08	11402314	44223304	126891763	33	3757											
MDN1	23195	broad.mit.edu	37	chr6	90432759	90432759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataacacccaggggactggTcaaccagcatcaactgacac	8	14	2	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:90432759T>C	ENST00000369393.3	-	40	5997	c.5882A>G	c.(5881-5883)gAc>gGc	p.D1961G	MDN1_ENST00000428876.1_Missense_Mutation_p.D1961G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1961					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGGGACTGGTCAACCAGCAT	0.478													False	0	False	6:90432759	0	C	90432759	T	C	90432759	3	2	46	1	0	0	0	0	1	0	0	0	9482	1667	58	4	11160	4	MDN1	6	90432759	Missense_Mutation	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	46209455	90432759	80682308	34	3758											
UTRN	7402	broad.mit.edu	37	chr6	144759999	144759999	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccctggatgatgatgtaAaatctctacaaaagctgcta	8	10	1	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:144759999A>C	ENST00000367545.3	+	11	1360	c.1360A>C	c.(1360-1362)Aaa>Caa	p.K454Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	454	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGATGATGTAAAATCTCTACA	0.433													False	0	True	6:144759999	0	C	144759999	A	C	144759999	3	2	46	1	0	0	0	0	1	0	0	0	17187	15	1	4	1402	4	UTRN	6	144759999	Missense_Mutation	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08	54327240	144759999	26355068	35	3759											
IYD	389434	broad.mit.edu	37	chr6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagtacatggtttcgccGcaaatggcaagaaaaaagtc	9	8	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433													False	0	False	6:150715311	0	A	150715311	G	A	150715311	3	1	46	1	0	0	0	0	1	0	0	0	7982	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	5955312	150715311	20399756	36	3760											
TIAM2	26230	broad.mit.edu	37	chr6	155575617	155575617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgagggagaacttcaggCgtcacataaagtgtgaatta	11	6	3	3			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:155575617C>T	ENST00000461783.3	+	28	5651	c.4378C>T	c.(4378-4380)Cgt>Tgt	p.R1460C	TIAM2_ENST00000529824.2_Missense_Mutation_p.R1489C|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1484C|TIAM2_ENST00000456144.1_Missense_Mutation_p.R1489C|TIAM2_ENST00000528391.2_Missense_Mutation_p.R796C|TIAM2_ENST00000275246.7_Missense_Mutation_p.R385C|TIAM2_ENST00000318981.5_Missense_Mutation_p.R1460C|TIAM2_ENST00000367174.2_Missense_Mutation_p.R836C|TIAM2_ENST00000456877.2_Missense_Mutation_p.R772C|RP11-477D19.2_ENST00000435295.1_RNA			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1460	PH 2.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAACTTCAGGCGTCACATAAA	0.458													False	0	False	6:155575617	0	T	155575617	C	T	155575617	3	4	46	1	0	0	0	0	1	0	0	0	15973	768	27	1	4468	1	TIAM2	6	155575617	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	4860306	155575617	15539450	37	3761											
IGF2R	3482	broad.mit.edu	37	chr6	160517606	160517606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagttcagtcacgagactgCcgactgccagtacctcttct	9	14	4	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr6:160517606C>T	ENST00000356956.1	+	45	6939	c.6791C>T	c.(6790-6792)gCc>gTc	p.A2264V	IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2264					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CACGAGACTGCCGACTGCCAG	0.537													False	0	True	6:160517606	0	T	160517606	C	T	160517606	3	4	46	1	0	0	0	0	1	0	0	0	7626	739	26	2	6969	2	IGF2R	6	160517606	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	4941989	160517606	10597461	38	3762											
LRRC17	10234	broad.mit.edu	37	chr7	102585031	102585031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccgcaaagaagcaaagcGtaataattactatagtagga	8	7	0	1	rs117261467	byFrequency	TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr7:102585031G>A	ENST00000339431.4	+	4	1598	c.1303G>A	c.(1303-1305)Gta>Ata	p.V435I	FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000455112.2_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000436908.1_Intron|LRRC17_ENST00000249377.4_3'UTR	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	435					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAAGCAAAGCGTAATAATTAC	0.318													False	0	False	7:102585031	0	A	102585031	G	A	102585031	3	1	46	1	0	0	0	0	1	0	0	0	9035	1145	40	1	1331	1	LRRC17	7	102585031	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		102585031	56553632	39	3763											
OR9A4	130075	broad.mit.edu	37	chr7	141618819	141618819	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagtcatcatcatgattgtCtgtgtggataaacgtctgca	9	8	5	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr7:141618819C>T	ENST00000548136.1	+	1	203	c.144C>T	c.(142-144)gtC>gtT	p.V48V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCATGATTGTCTGTGTGGATA	0.453													False	0	True	7:141618819	0	T	141618819	C	T	141618819	2	4	46	1	0	0	0	0	0	0	0	1	11317	900	32	2		2	OR9A4	7	141618819	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	39033788	141618819	17519844	40	3764											
XKR4	114786	broad.mit.edu	37	chr8	56015735	56015735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacatcgccgcggccaacagCggcagcaacagcagcggggc	14	15	0	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:56015735C>A	ENST00000327381.6	+	1	787	c.687C>A	c.(685-687)agC>agA	p.S229R		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CGGCCAACAGCGGCAGCAACA	0.647													False	0	False	8:56015735	0	A	56015735	C	A	56015735	3	1	46	1	0	0	0	0	1	0	0	0	17517	767	27	3	689	3	XKR4	8	56015735	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		56015735	90348287	41	3765											
CYP7A1	1581	broad.mit.edu	37	chr8	59404241	59404241	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attgtagctcccgatccaaaGggcatgtagtaatactttaa	8	8	0	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:59404241G>C	ENST00000301645.3	-	6	1445	c.1308C>G	c.(1306-1308)ccC>ccG	p.P436P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	436					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCGATCCAAAGGGCATGTAGT	0.353									Neonatal Giant Cell Hepatitis				False	0	True	8:59404241	0	C	59404241	G	C	59404241	2	2	46	1	0	0	0	0	0	0	0	1	4221	987	35	5		5	CYP7A1	8	59404241	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	3388506	59404241	86959781	42	3766											
PREX2	80243	broad.mit.edu	37	chr8	69033248	69033248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatcttcccagcagcgtcCggactcttgctcagaacatc	9	14	3	1	rs143386950		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:69033248C>T	ENST00000288368.4	+	30	3965	c.3688C>T	c.(3688-3690)Cgg>Tgg	p.R1230W		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1230					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCAGCGTCCGGACTCTTGC	0.383													False	0	False	8:69033248	0	T	69033248	C	T	69033248	3	4	46	1	0	0	0	0	1	0	0	0	12553	643	23	1	4035	1	PREX2	8	69033248	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	9629007	69033248	77330774	43	3767											
ZFHX4	79776	broad.mit.edu	37	chr8	77765105	77765105	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgctagaaaaatttgctcGtcaatacagggaggcctatg	11	8	1	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr8:77765105G>A	ENST00000521891.2	+	10	6396	c.5948G>A	c.(5947-5949)cGt>cAt	p.R1983H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1957H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1938H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1938H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1938	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1983H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATTTGCTCGTCAATACAGG	0.458										HNSCC(33;0.089)			False	0	False	8:77765105	0	A	77765105	G	A	77765105	3	1	46	1	0	0	0	0	1	0	0	0	17718	1145	40	1	5982	1	ZFHX4	8	77765105	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	8731857	77765105	68598917	44	3768											
MLLT3	4300	broad.mit.edu	37	chr9	20414334	20414334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgctGctgctgctactgctgctgct	12	14	0	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:20414334G>A	ENST00000380338.4	-	5	796	c.510C>T	c.(508-510)agC>agT	p.S170S	MLLT3_ENST00000429426.2_Silent_p.S167S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	170	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctgctac	0.537			T	MLL	ALL								False	0	True	9:20414334	0	A	20414334	G	A	20414334	2	1	46	1	0	0	0	0	0	0	0	1	9695	1310	46	2		2	MLLT3	9	20414334	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		20414334	120799097	45	3769											
LHX6	26468	broad.mit.edu	37	chr9	124967022	124967022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgcccacgggcagatgCggaagtgccggcagcgttag	19	11	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:124967022C>T	ENST00000340587.3	-	9	1292	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	LHX6_ENST00000373754.2_Silent_p.P335P|LHX6_ENST00000559895.1_3'UTR|LHX6_ENST00000541397.2_Silent_p.P353P|LHX6_ENST00000373755.2_3'UTR|LHX6_ENST00000464484.2_Silent_p.P22P|LHX6_ENST00000482062.1_3'UTR|LHX6_ENST00000394319.4_3'UTR	NM_199160.3	NP_954629.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	0					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						CGGGCAGATGCGGAAGTGCCG	0.682													False	0	False	9:124967022	0	T	124967022	C	T	124967022	2	4	46	1	0	0	0	0	0	0	0	1	8827	755	27	1		1	LHX6	9	124967022	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	104552688	124967022	16246409	46	3770											
C9orf139	401563	broad.mit.edu	37	chr9	139929195	139929195	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcctgccatccttcctgttTgtgctgccaggctggcaggg	13	13	0	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr9:139929195T>A	ENST00000314330.2	+	3	1776	c.262T>A	c.(262-264)Tgt>Agt	p.C88S		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	88										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		CCTTCCTGTTTGTGCTGCCAG	0.677													False	0	True	9:139929195	0	A	139929195	T	A	139929195	3	1	46	1	0	0	0	0	1	0	0	0	2479	1812	63	5	268	5	C9orf139	9	139929195	Missense_Mutation	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	14962173	139929195	1284236	47	3771											
ZNF485	220992	broad.mit.edu	37	chr10	44104721	44104721	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcttctctcttccaaacCaaaactaattactcagttgg	6	11	3	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:44104721C>A	ENST00000361807.3	+	4	364	c.170C>A	c.(169-171)cCa>cAa	p.P57Q	ZNF485_ENST00000374435.3_Missense_Mutation_p.P57Q|ZNF485_ENST00000374437.2_Intron	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TCTTCCAAACCAAAACTAATT	0.468													False	0	True	10:44104721	0	A	44104721	C	A	44104721	3	1	46	1	0	0	0	0	1	0	0	0	18021	594	21	3	180	3	ZNF485	10	44104721	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		44104721	91430026	48	3772											
PPP1R3C	5507	broad.mit.edu	37	chr10	93389939	93389939	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcatggtaagaaatgcagaaCtcaattttctgctcagttgg	10	7	3	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:93389939C>G	ENST00000238994.5	-	2	783	c.699G>C	c.(697-699)gaG>gaC	p.E233D		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	233	CBM21.|Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				AAATGCAGAACTCAATTTTCT	0.408													False	0	False	10:93389939	0	G	93389939	C	G	93389939	3	3	46	1	0	0	0	0	1	0	0	0	12447	564	20	5	258	5	PPP1R3C	10	93389939	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	49285218	93389939	42144808	49	3773											
C10orf90	118611	broad.mit.edu	37	chr10	128193207	128193207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcaaaagatctctgatgccGacctggatgggcgccattgg	14	10	1	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr10:128193207G>A	ENST00000284694.7	-	3	682	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	C10orf90_ENST00000454341.1_Missense_Mutation_p.R188W|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.R141W|C10orf90_ENST00000544758.1_Missense_Mutation_p.R285W|C10orf90_ENST00000392694.1_Missense_Mutation_p.R141W	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	188										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTGATGCCGACCTGGATGG	0.627											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	10:128193207	0	A	128193207	G	A	128193207	3	1	46	1	0	0	0	0	1	0	0	0	1631	1057	37	1	1565	1	C10orf90	10	128193207	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	34803268	128193207	7341540	50	3774											
DCDC1	341019	broad.mit.edu	37	chr11	30926703	30926703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttcagccttgtcacacgaCaaatcaacctaattttttaa	3	10	3	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:30926703C>A	ENST00000597505.1	-	29	4112	c.4113G>T	c.(4111-4113)ttG>ttT	p.L1371F	DCDC1_ENST00000406071.2_Missense_Mutation_p.L106F|DCDC1_ENST00000339794.5_Missense_Mutation_p.L450F			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTCACACGACAAATCAACCt	0.363													False	0	True	11:30926703	0	A	30926703	C	A	30926703	3	1	46	1	0	0	0	0	1	0	0	0	4309	493	17	3		3	DCDC1	11	30926703	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		30926703	104079813	51	3775											
QSER1	79832	broad.mit.edu	37	chr11	32956817	32956817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagtgtctgaaactggcgGtaacagtccatcagataaag	10	7	2	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:32956817G>A	ENST00000399302.2	+	4	3961	c.3626G>A	c.(3625-3627)gGt>gAt	p.G1209D	QSER1_ENST00000527788.1_Missense_Mutation_p.G970D	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1209										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GAAACTGGCGGTAACAGTCCA	0.423													False	0	False	11:32956817	0	A	32956817	G	A	32956817	3	1	46	1	0	0	0	0	1	0	0	0	12961	1261	44	2	3632	2	QSER1	11	32956817	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	2030114	32956817	102049699	52	3776											
DYNC2H1	79659	broad.mit.edu	37	chr11	103057008	103057008	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaatctcctccagactttcAcaaacctatggatacctact	4	13	2	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:103057008A>T	ENST00000375735.2	+	42	6815	c.6671A>T	c.(6670-6672)cAc>cTc	p.H2224L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H2224L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2224					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCAGACTTTCACAAACCTATG	0.393													False	0	False	11:103057008	0	T	103057008	A	T	103057008	3	4	46	1	0	0	0	0	1	0	0	0	4876	159	6	5	6837	5	DYNC2H1	11	103057008	Missense_Mutation	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08	70100191	103057008	31949508	53	3777											
PPP2R1B	5519	broad.mit.edu	37	chr11	111626165	111626165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttccacagcaaggaggcGcactgaatcctaaaggaaca	10	11	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:111626165G>A	ENST00000527614.1	-	6	762	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R233C|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.R106C|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R72C|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R233C|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R169C	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	233							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GCAAGGAGGCGCACTGAATCC	0.448													False	0	False	11:111626165	0	A	111626165	G	A	111626165	3	1	46	1	0	0	0	0	1	0	0	0	12457	1087	38	1	1371	1	PPP2R1B	11	111626165	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	8569157	111626165	23380351	54	3778											
PUS3	83480	broad.mit.edu	37	chr11	125763815	125763816	+	Frame_Shift_Ins	INS	-	-	TCAA													catggaataaatgtgggtgcINStcaattcgtcccctacgtac							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr11:125763815_125763816insTCAA	ENST00000530811.1	-	3	1355_1356	c.1310_1311insTTGA	c.(1309-1311)gagfs	p.E437fs	HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Frame_Shift_Ins_p.E437fs			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	437						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		AATGTGGGTGCTCAATTCGTCC	0.465													False	1	False	11:125763815	0	TCAA	125763816	-	TCAA	125763815	7	5	46	1	0	1	1	0	0	0	0	0	12911	796	28	0	138	0	PUS3	11	125763815	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ0-01A-31D-A40W-08	14137650	125763815	9242701	55	3779											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	46	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		25398285	108453610	56	3780											
PRPF40B	25766	broad.mit.edu	37	chr12	50025192	50025200	+	In_Frame_Del	DEL	TCCAGGGAT	TCCAGGGAT	-													actcatttccagatgcccccTccagggatccccccaccctt							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	TCCAGGGAT	TCCAGGGAT	-	-	TCCAGGGAT	TCCAGGGAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:50025192_50025200delTCCAGGGAT	ENST00000261897.1	+	2	560_568	c.9_17delTCCAGGGAT	c.(7-18)cctccagggatc>ccc	p.PGI4del	PRPF40B_ENST00000380281.1_In_Frame_Del_p.PGI10del|PRPF40B_ENST00000548825.2_In_Frame_Del_p.PGI32del			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	10	Pro-rich.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AGATGCCCCCTCCAGGGATCCCCCCACCC	0.584													False	1	True	12:50025192	0	-	50025200	TCCAGGGAT	-	50025192	7	5	46	1	0	1	0	1	0	0	0	0	12648	1538	54	0	33	0	PRPF40B	12	50025192	In_Frame_Del	DEL	TCCAGGGAT	TCGA-FB-AAQ0-01A-31D-A40W-08	24626907	50025192	83826703	57	3781											
DNAH10	196385	broad.mit.edu	37	chr12	124323215	124323215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcagcgacccactctgCgtccaggagcacatgatcaa	12	13	2	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr12:124323215C>T	ENST00000409039.3	+	28	4786	c.4761C>T	c.(4759-4761)tgC>tgT	p.C1587C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1587	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCCACTCTGCGTCCAGGAGC	0.537													False	0	False	12:124323215	0	T	124323215	C	T	124323215	2	4	46	1	0	0	0	0	0	0	0	1	4628	776	27	1		1	DNAH10	12	124323215	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	74298023	124323215	9528680	58	3782											
MCF2L	23263	broad.mit.edu	37	chr13	113678964	113678964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctctccccaggtgggcGggggcaggacggaagcccgg	19	12	1	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr13:113678964G>A	ENST00000397030.1	+	3	306	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	MCF2L_ENST00000375597.4_Missense_Mutation_p.R55Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R114Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R87Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R63Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R57Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R55Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.R87Q|MCF2L_ENST00000397024.1_Missense_Mutation_p.R55Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R61Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R61Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	87	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCAGGTGGGCGGGGGCAGGAC	0.612													False	0	True	13:113678964	0	A	113678964	G	A	113678964	3	1	46	1	0	0	0	0	1	0	0	0	9446	1116	39	1	446	1	MCF2L	13	113678964	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		113678964	1490914	59	3783											
HECTD1	25831	broad.mit.edu	37	chr14	31575880	31575880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctatgctaagtggaggccCagaacctgatggattcttca	10	10	3	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:31575880C>T	ENST00000399332.1	-	38	7686	c.7198G>A	c.(7198-7200)Ggg>Agg	p.G2400R	HECTD1_ENST00000553700.1_Missense_Mutation_p.G2400R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2400	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGTGGAGGCCCAGAACCTGAT	0.378													False	0	True	14:31575880	0	T	31575880	C	T	31575880	3	4	46	1	0	0	0	0	1	0	0	0	7086	594	21	2	658	2	HECTD1	14	31575880	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		31575880	75773660	60	3784											
CGRRF1	10668	broad.mit.edu	37	chr14	55004518	55004518	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattgtatcaatatttactcTtggctcaaggtcaatttcat	5	7	5	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:55004518T>G	ENST00000216420.7	+	5	781	c.649T>G	c.(649-651)Ttg>Gtg	p.L217V	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	217					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						ATATTTACTCTTGGCTCAAGG	0.338													False	0	False	14:55004518	0	G	55004518	T	G	55004518	3	3	46	1	0	0	0	0	1	0	0	0	3329	1606	56	4	667	4	CGRRF1	14	55004518	Missense_Mutation	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	23428638	55004518	52345022	61	3785											
DICER1	23405	broad.mit.edu	37	chr14	95572489	95572489	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catactcaggggaaggaaatTtactgagtggggtaagatca	13	5	2	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr14:95572489T>A	ENST00000526495.1	-	20	3167	c.2876A>T	c.(2875-2877)aAa>aTa	p.K959I	DICER1_ENST00000527414.1_Missense_Mutation_p.K959I|DICER1_ENST00000541352.1_Missense_Mutation_p.K959I|DICER1_ENST00000393063.1_Missense_Mutation_p.K959I|DICER1_ENST00000343455.3_Missense_Mutation_p.K959I			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	959	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGAAGGAAATTTACTGAGTGG	0.373			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				False	0	True	14:95572489	0	A	95572489	T	A	95572489	3	1	46	1	0	0	0	0	1	0	0	0	4551	1841	64	5	2932	5	DICER1	14	95572489	Missense_Mutation	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	40567971	95572489	11777051	62	3786											
MKRN3	7681	broad.mit.edu	37	chr15	23811532	23811532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtgtagaaagctgggcGgatgccattgagtttgttcc	15	7	0	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:23811532G>A	ENST00000314520.3	+	1	1079	c.603G>A	c.(601-603)gcG>gcA	p.A201A	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	201						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AAAGCTGGGCGGATGCCATTG	0.592													False	0	False	15:23811532	0	A	23811532	G	A	23811532	2	1	46	1	0	0	0	0	0	0	0	1	9675	1103	39	1		1	MKRN3	15	23811532	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		23811532	78719860	63	3787											
RASGRF1	5923	broad.mit.edu	37	chr15	79323771	79323771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccagtttggacttggcGtagtccaggctgttgcgctc	12	12	0	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:79323771G>A	ENST00000419573.3	-	8	1507	c.1233C>T	c.(1231-1233)taC>taT	p.Y411Y	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.Y411Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	411	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGGACTTGGCGTAGTCCAGGC	0.637													False	0	False	15:79323771	0	A	79323771	G	A	79323771	2	1	46	1	0	0	0	0	0	0	0	1	13151	1140	40	1		1	RASGRF1	15	79323771	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	55512239	79323771	23207621	64	3788											
IGF1R	3480	broad.mit.edu	37	chr15	99482481	99482481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagatgattcagatggccGgagagattgcagacggcatg	15	7	1	5			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr15:99482481G>A	ENST00000268035.6	+	18	3960	c.3349G>A	c.(3349-3351)Gga>Aga	p.G1117R	IGF1R_ENST00000558762.1_Missense_Mutation_p.G1116R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1117	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCAGATGGCCGGAGAGATTGC	0.438													False	0	True	15:99482481	0	A	99482481	G	A	99482481	3	1	46	1	0	0	0	0	1	0	0	0	7621	1117	39	1	3419	1	IGF1R	15	99482481	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	20158710	99482481	3048911	65	3789											
MYH11	4629	broad.mit.edu	37	chr16	15841926	15841926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcggaactcctggaagaCgatccggttggggaagccct	15	10	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:15841926C>T	ENST00000452625.2	-	18	2266	c.2179G>A	c.(2179-2181)Gtc>Atc	p.V727I	MYH11_ENST00000300036.5_Missense_Mutation_p.V720I|MYH11_ENST00000576790.2_Missense_Mutation_p.V720I|MYH11_ENST00000396324.3_Missense_Mutation_p.V727I	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	720	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCTGGAAGACGATCCGGTTG	0.647			T	CBFB	AML								False	0	False	16:15841926	0	T	15841926	C	T	15841926	3	4	46	1	0	0	0	0	1	0	0	0	10098	536	19	1	3895	1	MYH11	16	15841926	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		15841926	74512827	66	3790											
IL4R	3566	broad.mit.edu	37	chr16	27356274	27356274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgtggtcagtgcggataaCtatacactggacctgtgggc	14	9	1	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:27356274C>A	ENST00000395762.2	+	5	553	c.294C>A	c.(292-294)aaC>aaA	p.N98K	IL4R_ENST00000543915.2_Missense_Mutation_p.N98K|IL4R_ENST00000380922.3_Missense_Mutation_p.N83K|IL4R_ENST00000449195.1_Missense_Mutation_p.N98K|IL4R_ENST00000170630.2_Missense_Mutation_p.N98K	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	98					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GTGCGGATAACTATACACTGG	0.642													False	0	False	16:27356274	0	A	27356274	C	A	27356274	3	1	46	1	0	0	0	0	1	0	0	0	7748	564	20	3	304	3	IL4R	16	27356274	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	11514348	27356274	62998479	67	3791											
AMFR	267	broad.mit.edu	37	chr16	56423115	56423115	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accatcgaaatggaagaagtGattgtgttggtttaagcgag	13	4	0	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:56423115G>C	ENST00000290649.5	-	9	1468	c.1258C>G	c.(1258-1260)Cac>Gac	p.H420D		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	420					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGGAAGAAGTGATTGTGTTGG	0.423													False	0	False	16:56423115	0	C	56423115	G	C	56423115	3	2	46	1	0	0	0	0	1	0	0	0	571	1290	45	5	697	5	AMFR	16	56423115	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	29066841	56423115	33931638	68	3792											
USP10	9100	broad.mit.edu	37	chr16	84806216	84806216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcacctgaaacgattcGtttatgagaagactggtggg	13	7	0	3			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr16:84806216G>A	ENST00000219473.7	+	12	2181	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	USP10_ENST00000570191.1_Missense_Mutation_p.V694I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	690					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GAAACGATTCGTTTATGAGAA	0.443													False	0	True	16:84806216	0	A	84806216	G	A	84806216	3	1	46	1	0	0	0	0	1	0	0	0	17125	1145	40	1	2114	1	USP10	16	84806216	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	28383101	84806216	5548537	69	3793											
ASPA	443	broad.mit.edu	37	chr17	3397713	3397713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgattacccccgggatgAaaatggagaaattgctgcta	11	7	0	3			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:3397713A>G	ENST00000263080.2	+	5	862	c.704A>G	c.(703-705)gAa>gGa	p.E235G	ASPA_ENST00000456349.2_Missense_Mutation_p.E235G|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	235					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CCCCGGGATGAAAATGGAGAA	0.343													False	0	True	17:3397713	0	G	3397713	A	G	3397713	3	3	46	1	0	0	0	0	1	0	0	0	1054	246	9	4	722	4	ASPA	17	3397713	Missense_Mutation	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08		3397713	77797497	70	3794											
TP53	7157	broad.mit.edu	37	chr17	7578235	7578235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtttctgtcatccaaaTactccacacgcaaatttcct	4	12	2	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:7578235T>G	ENST00000420246.2	-	6	746	c.614A>C	c.(613-615)tAt>tCt	p.Y205S	TP53_ENST00000269305.4_Missense_Mutation_p.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000445888.2_Missense_Mutation_p.Y205S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCATCCAAATACTCCACACG	0.542		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)			False	0	True	17:7578235	0	G	7578235	T	G	7578235	3	3	46	1	0	0	0	0	1	0	0	0	16464	1406	49	4	680	4	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	4180522	7578235	73616975	71	3795											
HNF1B	6928	broad.mit.edu	37	chr17	36070591	36070597	+	Frame_Shift_Del	DEL	TCACCAT	TCACCAT	-													ctgtaaaaccgactggctggTcaccatggcgctgttgccat							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	TCACCAT	TCACCAT	-	-	TCACCAT	TCACCAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:36070591_36070597delTCACCAT	ENST00000560016.1	-	5	1253_1259	c.1120_1126delATGGTGA	c.(1120-1128)atggtgaccfs	p.MVT374fs	HNF1B_ENST00000225893.4_Frame_Shift_Del_p.MVT374fs|HNF1B_ENST00000427275.2_Frame_Shift_Del_p.MVT348fs|HNF1B_ENST00000561193.1_Frame_Shift_Del_p.MVT348fs			P35680	HNF1B_HUMAN	HNF1 homeobox B	374					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GACTGGCTGGTCACCATGGCGCTGTTG	0.536													False	1	False	17:36070591	0	-	36070597	TCACCAT	-	36070591	7	5	46	1	0	1	0	1	0	0	0	0	7299	1667	58	0	567	0	HNF1B	17	36070591	Frame_Shift_Del	DEL	TCACCAT	TCGA-FB-AAQ0-01A-31D-A40W-08	28492356	36070591	45124619	72	3796											
ACLY	47	broad.mit.edu	37	chr17	40030190	40030190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcagatgctggtcatgaacGaggcaggtttgcggatcaaa	14	8	2	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr17:40030190G>A	ENST00000352035.2	-	23	2646	c.2516C>T	c.(2515-2517)tCg>tTg	p.S839L	ACLY_ENST00000590151.1_Missense_Mutation_p.S839L|ACLY_ENST00000393896.2_Missense_Mutation_p.S829L|ACLY_ENST00000537919.1_Missense_Mutation_p.S568L|ACLY_ENST00000353196.1_Missense_Mutation_p.S829L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	839					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GGTCATGAACGAGGCAGGTTT	0.587													False	0	False	17:40030190	0	A	40030190	G	A	40030190	3	1	46	1	0	0	0	0	1	0	0	0	143	1059	37	1	817	1	ACLY	17	40030190	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	3959599	40030190	41165020	73	3797											
GNAL	2774	broad.mit.edu	37	chr18	11752449	11752449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcatggggtgtttgggcgGcaacagcaagacgacggaag	18	7	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr18:11752449G>A	ENST00000423027.3	+	1	338	c.17G>A	c.(16-18)gGc>gAc	p.G6D	GNAL_ENST00000535121.1_Missense_Mutation_p.G6D|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Missense_Mutation_p.G6D			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	6					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TGTTTGGGCGGCAACAGCAAG	0.557													False	0	False	18:11752449	0	A	11752449	G	A	11752449	3	1	46	1	0	0	0	0	1	0	0	0	6552	1203	42	2	399	2	GNAL	18	11752449	Missense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		11752449	66324799	74	3798											
NOL4	8715	broad.mit.edu	37	chr18	31538269	31538269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttctccgaatcgtcatgGtcctcgtggtcatcttcgtc	8	13	4	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr18:31538269G>A	ENST00000261592.5	-	7	1467	c.1170C>T	c.(1168-1170)gaC>gaT	p.D390D	NOL4_ENST00000535475.1_Silent_p.D235D|NOL4_ENST00000535384.1_Silent_p.D105D|NOL4_ENST00000269185.4_Silent_p.D276D|NOL4_ENST00000589544.1_Silent_p.D390D|NOL4_ENST00000538587.1_Silent_p.D316D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	390						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AATCGTCATGGTCCTCGTGGT	0.493													False	0	False	18:31538269	0	A	31538269	G	A	31538269	2	1	46	1	0	0	0	0	0	0	0	1	10592	1252	44	2		2	NOL4	18	31538269	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	19785820	31538269	46538979	75	3799											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	46	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-FB-AAQ0-01A-31D-A40W-08		14083667	45045316	76	3800											
TSHZ3	57616	broad.mit.edu	37	chr19	31769290	31769290	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcgacttccttcttgAcctccacattcagttttggg	7	13	2	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:31769290A>C	ENST00000240587.4	-	2	1736	c.1409T>G	c.(1408-1410)gTc>gGc	p.V470G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	470					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTCCTTCTTGACCTCCACATT	0.532													False	0	False	19:31769290	0	C	31769290	A	C	31769290	3	2	46	1	0	0	0	0	1	0	0	0	16708	275	10	4	1840	4	TSHZ3	19	31769290	Missense_Mutation	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08	17685623	31769290	27359693	77	3801											
TSHZ3	57616	broad.mit.edu	37	chr19	31770055	31770055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgctgcagtccttacagCggaacttgctggcccccgtg	12	15	0	0			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:31770055C>T	ENST00000240587.4	-	2	971	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	215					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTCCTTACAGCGGAACTTGCT	0.612													False	0	False	19:31770055	0	T	31770055	C	T	31770055	3	4	46	1	0	0	0	0	1	0	0	0	16708	768	27	1	2605	1	TSHZ3	19	31770055	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	765	31770055	27358928	78	3802											
ZNF181	339318	broad.mit.edu	37	chr19	35232275	35232275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgaactgtggaaagtcttTtagtcgtgtgtcccatctta	9	7	2	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:35232275T>C	ENST00000392232.3	+	6	1289	c.1121T>C	c.(1120-1122)tTt>tCt	p.F374S	ZNF181_ENST00000459757.2_Missense_Mutation_p.F329S|ZNF181_ENST00000492450.1_Missense_Mutation_p.F330S			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F266S(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGAAAGTCTTTTAGTCGTGTG	0.398													False	0	True	19:35232275	0	C	35232275	T	C	35232275	3	2	46	1	0	0	0	0	1	0	0	0	17832	1841	64	4	1003	4	ZNF181	19	35232275	Missense_Mutation	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	3462220	35232275	23896708	79	3803											
HAUS5	23354	broad.mit.edu	37	chr19	36104957	36104957	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtatggccaccaggacagtcCacaggtgagaagcatatgct	12	10	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:36104957C>G	ENST00000203166.5	+	4	240	c.215C>G	c.(214-216)cCa>cGa	p.P72R	HAUS5_ENST00000379045.2_Missense_Mutation_p.P72R	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	72					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.P72L(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CAGGACAGTCCACAGGTGAGA	0.537													False	0	False	19:36104957	0	G	36104957	C	G	36104957	3	3	46	1	0	0	0	0	1	0	0	0	7016	594	21	5	229	5	HAUS5	19	36104957	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	872682	36104957	23024026	80	3804											
ZNF420	147923	broad.mit.edu	37	chr19	37618172	37618172	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggattatttggaagccaaAggcaagatggagaagcaaca	13	5	0	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:37618172A>C	ENST00000337995.3	+	5	494	c.279A>C	c.(277-279)aaA>aaC	p.K93N	ZNF420_ENST00000304239.7_Missense_Mutation_p.K93N|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGAAGCCAAAGGCAAGATGG	0.368													False	0	True	19:37618172	0	C	37618172	A	C	37618172	3	2	46	1	0	0	0	0	1	0	0	0	17980	69	3	4	289	4	ZNF420	19	37618172	Missense_Mutation	SNP	A	TCGA-FB-AAQ0-01A-31D-A40W-08	1513215	37618172	21510811	81	3805											
EMP3	2014	broad.mit.edu	37	chr19	48833591	48833591	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tactggcgccttgatctatgCcattcacgccgaggagatcc	10	13	2	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:48833591C>G	ENST00000270221.6	+	5	657	c.356C>G	c.(355-357)gCc>gGc	p.A119G	EMP3_ENST00000596315.1_Missense_Mutation_p.A50G|EMP3_ENST00000597279.1_Missense_Mutation_p.A119G	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	119					cell growth|negative regulation of cell proliferation	integral to membrane				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TTGATCTATGCCATTCACGCC	0.607													False	0	False	19:48833591	0	G	48833591	C	G	48833591	3	3	46	1	0	0	0	0	1	0	0	0	5135	739	26	5	370	5	EMP3	19	48833591	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	11215419	48833591	10295392	82	3806											
SLC17A7	57030	broad.mit.edu	37	chr19	49935855	49935855	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagtccgcgatctggccgccGatgggcacgatgatggtcat	14	11	2	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:49935855G>T	ENST00000221485.3	-	9	1242	c.1071C>A	c.(1069-1071)atC>atA	p.I357I	SLC17A7_ENST00000600601.1_Silent_p.I290I|SLC17A7_ENST00000543531.1_Silent_p.I345I	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	357					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TCTGGCCGCCGATGGGCACGA	0.672													False	0	False	19:49935855	0	T	49935855	G	T	49935855	2	4	46	1	0	0	0	0	0	0	0	1	14503	1048	37	3		3	SLC17A7	19	49935855	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	1102264	49935855	9193128	83	3807											
LILRA3	0	broad.mit.edu	37	chr19	54803682	54803682	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggctcccctgacaccTgagggtcacaggactccctt	9	17	1	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:54803682T>G	ENST00000391745.1	-	7	509	c.193A>C	c.(193-195)Agg>Cgg	p.R65R	LILRA3_ENST00000391744.3_Silent_p.R48R|LILRA3_ENST00000251390.3_Silent_p.R48R					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCTGACACCTGAGGGTCACA	0.547													False	0	False	19:54803682	0	G	54803682	T	G	54803682	2	3	46	1	0	0	0	0	0	0	0	1	8838	1579	55	4		4	LILRA3	19	54803682	Silent	SNP	T	TCGA-FB-AAQ0-01A-31D-A40W-08	4867827	54803682	4325301	84	3808											
NLRP9	338321	broad.mit.edu	37	chr19	56244180	56244180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtacagaccaaccagcaCgtaaagggattatggcacaa	9	10	0	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:56244180C>T	ENST00000332836.2	-	2	1044	c.1017G>A	c.(1015-1017)acG>acA	p.T339T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	339	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CCAACCAGCACGTAAAGGGAT	0.413													False	0	False	19:56244180	0	T	56244180	C	T	56244180	2	4	46	1	0	0	0	0	0	0	0	1	10552	523	19	1		1	NLRP9	19	56244180	Silent	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08	1440498	56244180	2884803	85	3809											
PEG3	5178	broad.mit.edu	37	chr19	57327998	57327998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcctaaaggtttccccGcgctcacgttcacgttcacg	10	15	3	0	rs143113379		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr19:57327998G>A	ENST00000326441.9	-	10	2175	c.1812C>T	c.(1810-1812)cgC>cgT	p.R604R	PEG3_ENST00000423103.2_Silent_p.R604R|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.R478R|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Silent_p.R480R|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	604					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGTTTCCCCGCGCtcacgtt	0.463													False	0	True	19:57327998	0	A	57327998	G	A	57327998	2	1	46	1	0	0	0	0	0	0	0	1	11788	1074	38	1		1	PEG3	19	57327998	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	1083818	57327998	1800985	86	3810											
GART	2618	broad.mit.edu	37	chr21	34878358	34878358	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagataacaatatcaatttGtgcagagctatttggttccc	9	7	1	2			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr21:34878358G>A	ENST00000381831.3	-	19	2769	c.2506C>T	c.(2506-2508)Caa>Taa	p.Q836*	GART_ENST00000381815.4_Nonsense_Mutation_p.Q836*|GART_ENST00000381839.3_Nonsense_Mutation_p.Q836*|GART_ENST00000543717.1_Nonsense_Mutation_p.Q388*	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	836	GART.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATATCAATTTGTGCAGAGCTA	0.418													False	0	True	21:34878358	0	A	34878358	G	A	34878358	4	1	46	1	0	0	0	0	0	1	0	0	6286	1386	48	2	542	2	GART	21	34878358	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08		34878358	13251537	87	3811											
PCBP3	54039	broad.mit.edu	37	chr21	47355186	47355186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctggacgccagcccaccGgccagcactcatgagctcac	11	17	3	1			TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chr21:47355186G>A	ENST00000400314.1	+	14	1214	c.876G>A	c.(874-876)ccG>ccA	p.P292P	PCBP3_ENST00000400309.1_Silent_p.P291P|PCBP3_ENST00000449640.1_Silent_p.P292P|PCBP3_ENST00000400308.1_Silent_p.P266P|PCBP3_ENST00000400304.1_Silent_p.P282P|PCBP3_ENST00000400310.1_Silent_p.P272P			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	292					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCAGCCCACCGGCCAGCACTC	0.582													False	0	False	21:47355186	0	A	47355186	G	A	47355186	2	1	46	1	0	0	0	0	0	0	0	1	11570	1103	39	1		1	PCBP3	21	47355186	Silent	SNP	G	TCGA-FB-AAQ0-01A-31D-A40W-08	12476828	47355186	774709	88	3812											
DMD	1756	broad.mit.edu	37	chrX	32486730	32486730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaattctgattgatatttcCggctaatttcagagggcgct	9	8	2	3	rs139772014		TCGA-FB-AAQ0-01A-31D-A40W-08	TCGA-FB-AAQ0-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	77589c29-e28c-4585-ab6e-05ab8e3c965c	0eb76165-29c0-4220-b6dd-094907cb9510	g.chrX:32486730C>T	ENST00000357033.4	-	23	3253	c.3047G>A	c.(3046-3048)cGg>cAg	p.R1016Q	DMD_ENST00000378677.2_Missense_Mutation_p.R1012Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1016					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGATATTTCCGGCTAATTTC	0.433													False	0	False	X:32486730	0	T	32486730	C	T	32486730	3	4	46	1	0	0	0	0	1	0	0	0	4610	652	23	1	8481	1	DMD	23	32486730	Missense_Mutation	SNP	C	TCGA-FB-AAQ0-01A-31D-A40W-08		32486730	122783830	89	3813											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	47	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-FB-AAQ1-01A-12D-A40W-08		22987385	226263236	1	3814											
OXCT2	64064	broad.mit.edu	37	chr1	40236249	40236249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcacgttgaaattgcgggCgcttctcctgaagaccacgt	13	11	1	3			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:40236249C>T	ENST00000327582.5	-	1	771	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	227					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	AAATTGCGGGCGCTTCTCCTG	0.622											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:40236249	0	T	40236249	C	T	40236249	3	4	47	1	0	0	0	0	1	0	0	0	11398	768	27	1	878	1	OXCT2	1	40236249	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	17248864	40236249	209014372	2	3815											
TMEM59	9528	broad.mit.edu	37	chr1	54518728	54518728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccggtggcaagacgccGtatcacccaagaccgagtca	12	14	2	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:54518728G>A	ENST00000234831.5	-	1	383	c.134C>T	c.(133-135)aCg>aTg	p.T45M	TMEM59_ENST00000371341.1_Intron|TMEM59_ENST00000371337.3_Missense_Mutation_p.T45M	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	45						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						GCAAGACGCCGTATCACCCAA	0.657													False	0	False	1:54518728	0	A	54518728	G	A	54518728	3	1	47	1	0	0	0	0	1	0	0	0	16267	1145	40	1	869	1	TMEM59	1	54518728	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	14282479	54518728	194731893	3	3816											
FLG	2312	broad.mit.edu	37	chr1	152282228	152282228	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctaccactggaccctcGgtttccactgtctccgacta	8	16	1	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:152282228G>A	ENST00000368799.1	-	3	5169	c.5134C>T	c.(5134-5136)Cga>Tga	p.R1712*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1712	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGACCCTCGGTTTCCACTG	0.587									Ichthyosis				False	0	False	1:152282228	0	A	152282228	G	A	152282228	4	1	47	1	0	0	0	0	0	1	0	0	5962	1124	39	1	7055	1	FLG	1	152282228	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	97763500	152282228	96968393	4	3817											
ATP8B2	57198	broad.mit.edu	37	chr1	154316375	154316375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactctgcctccaggagtacGcaggggaagggctgaggacc	15	12	1	1	rs141457358	by1000genomes	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:154316375G>A	ENST00000368489.3	+	18	1864	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	608					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGAGTACGCAGGGGAAGG	0.592													False	0	False	1:154316375	0	A	154316375	G	A	154316375	3	1	47	1	0	0	0	0	1	0	0	0	1199	1087	38	1	2064	1	ATP8B2	1	154316375	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	2034147	154316375	94934246	5	3818											
PRG4	10216	broad.mit.edu	37	chr1	186276544	186276591	+	In_Frame_Del	DEL	CCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	CCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	-													aggagcctgcacccaccactCccaaggagcctgcacccacc					rs146182118		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	CCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	CCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	-	-	CCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	CCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr1:186276544_186276591delCCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	ENST00000445192.2	+	7	1738_1785	c.1693_1740delCCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	c.(1693-1740)cccaaggagcctgcacccaccacccccaagaagcctgccccaactaccdel	p.PKEPAPTTPKKPAPTT565del	PRG4_ENST00000367486.3_In_Frame_Del_p.PKEPAPTTPKKPAPTT522del|PRG4_ENST00000367485.4_In_Frame_Del_p.PKEPAPTTPKKPAPTT472del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.PKEPAPTTPKKPAPTT524del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	565	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T572A(1)|p.A569A(1)|p.A577A(1)|p.T579T(1)|p.T571T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACTCCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACCCCCAAGGAGC	0.637													False	1	True	1:186276544	0	-	186276591	CCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	-	186276544	7	5	47	1	0	1	0	1	0	0	0	0	12557	855	30	0	1715	0	PRG4	1	186276544	In_Frame_Del	DEL	CCCAAGGAGCCTGCACCCACCACCCCCAAGAAGCCTGCCCCAACTACC	TCGA-FB-AAQ1-01A-12D-A40W-08	31960169	186276544	62974077	6	3819											
THADA	63892	broad.mit.edu	37	chr2	43787408	43787408	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtttttgataacttcatcaGaagatcaaatgctaaaattt	5	5	3	3	rs78531159		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:43787408G>A	ENST00000405006.4	-	16	2779	c.2428C>T	c.(2428-2430)Ctg>Ttg	p.L810L	THADA_ENST00000402360.2_Silent_p.L810L|THADA_ENST00000330266.7_Silent_p.L520L|THADA_ENST00000404790.1_Silent_p.L810L|THADA_ENST00000415080.2_Silent_p.L520L|THADA_ENST00000405975.2_Silent_p.L810L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	810							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AACTTCATCAGAAGATCAAAT	0.338													False	0	False	2:43787408	0	A	43787408	G	A	43787408	2	1	47	1	0	0	0	0	0	0	0	1	15922	933	33	2		2	THADA	2	43787408	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		43787408	199411965	7	3820											
PRKRA	8575	broad.mit.edu	37	chr2	179309229	179309229	+	Splice_Site	DEL	T	T	-													ggggtcaggaactgcaaagcTaaatattttttaaaagtgtt							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:179309229delT	ENST00000325748.4	-	4	518		c.e4-2		PRKRA_ENST00000487082.1_Splice_Site|PRKRA_ENST00000438687.3_Splice_Site|PRKRA_ENST00000432031.2_Splice_Site	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator						immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ACTGCAAAGCTAAATATTTTT	0.338													False	1	True	2:179309229	0	-	179309229	T	-	179309229	8	5	47	1	0	1	0	1	0	0	1	0	12600	1536	53	0	645	0	PRKRA	2	179309229	Splice_Site	DEL	T	TCGA-FB-AAQ1-01A-12D-A40W-08	135521821	179309229	63890144	8	3821											
HECW2	57520	broad.mit.edu	37	chr2	197187274	197187274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacgcttgatgatgggaCggctcttggcaaatttgtct	12	7	2	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:197187274C>T	ENST00000260983.3	-	7	994	c.812G>A	c.(811-813)cGt>cAt	p.R271H	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GATGATGGGACGGCTCTTGGC	0.423													False	0	False	2:197187274	0	T	197187274	C	T	197187274	3	4	47	1	0	0	0	0	1	0	0	0	7090	536	19	1	3998	1	HECW2	2	197187274	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	17878045	197187274	46012099	9	3822											
FZD7	8324	broad.mit.edu	37	chr2	202900003	202900003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttccccttctcatgcccCcgtcagctcaaggtgccccc	7	21	3	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:202900003C>T	ENST00000286201.1	+	1	694	c.633C>T	c.(631-633)ccC>ccT	p.P211P		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	211					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCTCATGCCCCCGTCAGCTCA	0.711											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	2:202900003	0	T	202900003	C	T	202900003	2	4	47	1	0	0	0	0	0	0	0	1	6177	610	22	2		2	FZD7	2	202900003	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	5712729	202900003	40299370	10	3823											
SPEG	10290	broad.mit.edu	37	chr2	220356970	220356970	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttcttgcgaaaggttctctCtgtacatccctggtgagtga	10	10	3	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:220356970C>A	ENST00000312358.7	+	40	9731	c.9599C>A	c.(9598-9600)tCt>tAt	p.S3200Y	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3200	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AAGGTTCTCTCTGTACATCCC	0.612													False	0	True	2:220356970	0	A	220356970	C	A	220356970	3	1	47	1	0	0	0	0	1	0	0	0	15118	913	32	3	9769	3	SPEG	2	220356970	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	17456967	220356970	22842403	11	3824											
UBE2F	140739	broad.mit.edu	37	chr2	238940869	238940869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttttatttcaggatgtcGtttggggattaaactctttg	9	5	2	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr2:238940869G>A	ENST00000272930.4	+	8	612	c.418G>A	c.(418-420)Gtt>Att	p.V140I	UBE2F_ENST00000409332.1_Missense_Mutation_p.V118I|UBE2F-SCLY_ENST00000449191.1_Intron|UBE2F_ENST00000409633.1_Missense_Mutation_p.V140I|UBE2F_ENST00000409953.1_Missense_Mutation_p.V116I|UBE2F_ENST00000414443.1_Missense_Mutation_p.V108I	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	140					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TCAGGATGTCGTTTGGGGATT	0.338													False	0	True	2:238940869	0	A	238940869	G	A	238940869	3	1	47	1	0	0	0	0	1	0	0	0	16939	1145	40	1	444	1	UBE2F	2	238940869	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	18583899	238940869	4258504	12	3825											
DCLK3	85443	broad.mit.edu	37	chr3	36759634	36759634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggatatagaggatcacGccagcagcccacatgtccac	10	13	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:36759634G>A	ENST00000416516.2	-	4	2110	c.1620C>T	c.(1618-1620)ggC>ggT	p.G540G	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	540	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.G540G(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AGAGGATCACGCCAGCAGCCC	0.547													False	0	False	3:36759634	0	A	36759634	G	A	36759634	2	1	47	1	0	0	0	0	0	0	0	1	4318	1074	38	1		1	DCLK3	3	36759634	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		36759634	161262796	13	3826											
BSN	8927	broad.mit.edu	37	chr3	49662573	49662574	+	In_Frame_Ins	INS	-	-	GTA													gtccccgcaggacgctgcagINSgtagacagcaggacacagag							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:49662573_49662574insGTA	ENST00000296452.4	+	2	504_505	c.390_391insGTA	c.(391-393)gta>GTAgta	p.131_131V>VV		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	131					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGACGCTGCAGGTAGACAGCAG	0.653													False	1	False	3:49662573	0	GTA	49662574	-	GTA	49662573	7	5	47	1	0	1	1	0	0	0	0	0	1537	991	35	0	396	0	BSN	3	49662573	In_Frame_Ins	INS	-	TCGA-FB-AAQ1-01A-12D-A40W-08	12902939	49662573	148359857	14	3827											
BCHE	590	broad.mit.edu	37	chr3	165547794	165547794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taacacccaccaaaatctggGtttttttaaattgtccaagt	5	9	1	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr3:165547794G>T	ENST00000264381.3	-	2	1194	c.1028C>A	c.(1027-1029)aCc>aAc	p.T343N	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	343					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CAAAATCTGGGTTTTTTTAAA	0.383													False	0	True	3:165547794	0	T	165547794	G	T	165547794	3	4	47	1	0	0	0	0	1	0	0	0	1362	1261	44	3	792	3	BCHE	3	165547794	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	115885221	165547794	32474636	15	3828											
BEND4	389206	broad.mit.edu	37	chr4	42127607	42127607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagagacctacctctgtcGgctggtcagctggctgtggt	13	12	2	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:42127607G>A	ENST00000502486.1	-	4	1718	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	BEND4_ENST00000504360.1_Missense_Mutation_p.P376L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	380										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TACCTCTGTCGGCTGGTCAGC	0.458													False	0	False	4:42127607	0	A	42127607	G	A	42127607	3	1	47	1	0	0	0	0	1	0	0	0	1404	1116	39	1	477	1	BEND4	4	42127607	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		42127607	149026669	16	3829											
TIGD2	166815	broad.mit.edu	37	chr4	90034245	90034245	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtacggaattggtgaatcCacagttcgtgatattaaaaa	10	5	0	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:90034245C>A	ENST00000317005.2	+	1	278	c.120C>A	c.(118-120)tcC>tcA	p.S40S		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	40	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTGGTGAATCCACAGTTCGTG	0.363													False	0	False	4:90034245	0	A	90034245	C	A	90034245	2	1	47	1	0	0	0	0	0	0	0	1	15978	581	21	3		3	TIGD2	4	90034245	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	47906638	90034245	101120031	17	3830											
AP1AR	55435	broad.mit.edu	37	chr4	113181980	113181980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcattatgattccattgccGaaaaacaaaaagatcttgat	7	7	1	3			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:113181980G>A	ENST00000274000.5	+	5	599	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	AP1AR_ENST00000309703.6_Missense_Mutation_p.E82K	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	82	Interaction with AP1G1.				protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						TTCCATTGCCGAAAAACAAAA	0.299													False	0	True	4:113181980	0	A	113181980	G	A	113181980	3	1	47	1	0	0	0	0	1	0	0	0	732	1059	37	1	262	1	AP1AR	4	113181980	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	23147735	113181980	77972296	18	3831											
STOX2	56977	broad.mit.edu	37	chr4	184930914	184930914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgccagctacgatccctcGggaagtagagatggaaatca	11	11	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr4:184930914G>A	ENST00000308497.4	+	3	2358	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	STOX2_ENST00000438269.1_Missense_Mutation_p.R308Q	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	308					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		ACGATCCCTCGGGAAGTAGAG	0.502													False	0	True	4:184930914	0	A	184930914	G	A	184930914	3	1	47	1	0	0	0	0	1	0	0	0	15402	1116	39	1	933	1	STOX2	4	184930914	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	71748934	184930914	6223362	19	3832											
NIPBL	25836	broad.mit.edu	37	chr5	36985035	36985035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgttcttcaggaagatAttgttggaagtcttaaatct	8	5	5	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:36985035A>G	ENST00000282516.8	+	10	2252	c.1753A>G	c.(1753-1755)Att>Gtt	p.I585V	NIPBL_ENST00000448238.2_Missense_Mutation_p.I585V|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	585					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCAGGAAGATATTGTTGGAAG	0.373													False	0	False	5:36985035	0	G	36985035	A	G	36985035	3	3	47	1	0	0	0	0	1	0	0	0	10496	449	16	4	1787	4	NIPBL	5	36985035	Missense_Mutation	SNP	A	TCGA-FB-AAQ1-01A-12D-A40W-08		36985035	143930225	20	3833											
IL31RA	133396	broad.mit.edu	37	chr5	55203287	55203287	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcttatgccaaagaaggCggtatgaatggacaagaccc	12	9	0	3			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:55203287C>T	ENST00000396834.1	+	12	1792	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	IL31RA_ENST00000447346.2_Splice_Site_p.G451G|IL31RA_ENST00000490985.1_Splice_Site_p.G309G|IL31RA_ENST00000354961.4_Splice_Site_p.G432G|IL31RA_ENST00000396836.2_Splice_Site_p.G451G|IL31RA_ENST00000359040.5_Splice_Site_p.G451G|IL31RA_ENST00000297015.3_Splice_Site_p.G309G	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	419	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAAAGAAGGCGGTATGAATG	0.463													False	0	False	5:55203287	0	T	55203287	C	T	55203287	5	4	47	1	0	0	0	0	0	0	1	0	7741	782	27	1	1391	1	IL31RA	5	55203287	Splice_Site	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	18218252	55203287	125711973	21	3834											
DEPDC1B	55789	broad.mit.edu	37	chr5	59941390	59941390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgcggtggacaagacgGcaagctggcacctctccaat	12	12	2	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:59941390G>A	ENST00000265036.5	-	4	574	c.507C>T	c.(505-507)tgC>tgT	p.C169C	DEPDC1B_ENST00000545085.1_Silent_p.C142C|DEPDC1B_ENST00000453022.2_Silent_p.C169C	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	169					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GGACAAGACGGCAAGCTGGCA	0.438													False	0	False	5:59941390	0	A	59941390	G	A	59941390	2	1	47	1	0	0	0	0	0	0	0	1	4470	1195	42	2		2	DEPDC1B	5	59941390	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	4738103	59941390	120973870	22	3835											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	47	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-FB-AAQ1-01A-12D-A40W-08	18669054	78610444	102304816	23	3836											
SPINK5	11005	broad.mit.edu	37	chr5	147510862	147510862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaccgagtattgcccaggaTaggttatctttgtccaaagg	10	9	1	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr5:147510862T>C	ENST00000359874.3	+	32	3168	c.3095T>C	c.(3094-3096)aTa>aCa	p.I1032T	SPINK5_ENST00000256084.7_Missense_Mutation_p.I1002T	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1002	Kazal-like 15.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCCAGGATAGGTTATCTT	0.428													False	0	False	5:147510862	0	C	147510862	T	C	147510862	3	2	47	1	0	0	0	0	1	0	0	0	15144	1406	49	4	3233	4	SPINK5	5	147510862	Missense_Mutation	SNP	T	TCGA-FB-AAQ1-01A-12D-A40W-08	68900418	147510862	33404398	24	3837											
OR10C1	442194	broad.mit.edu	37	chr6	29408444	29408444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatcctgggctcctacGggcgtatcctcgttaccatc	9	16	1	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:29408444G>A	ENST00000444197.2	+	1	1362	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGCTCCTACGGGCGTATCCT	0.582													False	0	True	6:29408444	0	A	29408444	G	A	29408444	3	1	47	1	0	0	0	0	1	0	0	0	10966	1116	39	1	654	1	OR10C1	6	29408444	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		29408444	141706623	25	3838											
VARS	7407	broad.mit.edu	37	chr6	31748522	31748522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccaaaccggagagcatcGgtgccacattcaggaatccc	9	13	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:31748522G>A	ENST00000375663.3	-	24	3197	c.2757C>T	c.(2755-2757)acC>acT	p.T919T	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	919					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGAGAGCATCGGTGCCACATT	0.612													False	0	False	6:31748522	0	A	31748522	G	A	31748522	2	1	47	1	0	0	0	0	0	0	0	1	17207	1103	39	1		1	VARS	6	31748522	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	2340078	31748522	139366545	26	3839											
TNXB	7148	broad.mit.edu	37	chr6	32012898	32012898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggatcttgctctggtcGccgtccacgagcaaggcctg	13	12	2	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:32012898G>A	ENST00000375244.3	-	32	11013	c.10812C>T	c.(10810-10812)ggC>ggT	p.G3604G	TNXB_ENST00000375247.2_Silent_p.G3602G|TNXB_ENST00000451343.1_Silent_p.G33G			P22105	TENX_HUMAN	tenascin XB	3649	Fibronectin type-III 28.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCTCTGGTCGCCGTCCACGA	0.647													False	0	False	6:32012898	0	A	32012898	G	A	32012898	2	1	47	1	0	0	0	0	0	0	0	1	16428	1074	38	1		1	TNXB	6	32012898	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	264376	32012898	139102169	27	3840											
IP6K3	117283	broad.mit.edu	37	chr6	33690903	33690903	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttgtctgaacccctccactGagagttttcttccatagtac	6	13	2	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:33690903G>T	ENST00000451316.1	-	7	1362	c.827C>A	c.(826-828)tCa>tAa	p.S276*	IP6K3_ENST00000293756.4_Nonsense_Mutation_p.S276*	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	276					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CCCCTCCACTGAGAGTTTTCT	0.453													False	0	False	6:33690903	0	T	33690903	G	T	33690903	4	4	47	1	0	0	0	0	0	1	0	0	7840	1294	45	3	409	3	IP6K3	6	33690903	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	1678005	33690903	137424164	28	3841											
SLC22A16	85413	broad.mit.edu	37	chr6	110763856	110763856	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccaagtatcctgtcaaAgccaccagcagggttccaac	8	14	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr6:110763856A>G	ENST00000368919.3	-	4	840	c.774T>C	c.(772-774)gcT>gcC	p.A258A	SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Silent_p.A258A|SLC22A16_ENST00000330550.4_Silent_p.A224A	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	258					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ATCCTGTCAAAGCCACCAGCA	0.507													False	0	True	6:110763856	0	G	110763856	A	G	110763856	2	3	47	1	0	0	0	0	0	0	0	1	14528	59	3	4		4	SLC22A16	6	110763856	Silent	SNP	A	TCGA-FB-AAQ1-01A-12D-A40W-08	77072953	110763856	60351211	29	3842											
RELN	5649	broad.mit.edu	37	chr7	103180720	103180720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcgagtagaaccagaaCgggctttcaagggtatctcc	13	9	2	2	rs116394157	by1000genomes	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr7:103180720C>T	ENST00000428762.1	-	44	7013	c.6854G>A	c.(6853-6855)cGt>cAt	p.R2285H	RELN_ENST00000343529.5_Missense_Mutation_p.R2285H|RELN_ENST00000424685.2_Missense_Mutation_p.R2285H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2285					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAACCAGAACGGGCTTTCAA	0.527													False	0	True	7:103180720	0	T	103180720	C	T	103180720	3	4	47	1	0	0	0	0	1	0	0	0	13299	536	19	1	3616	1	RELN	7	103180720	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08		103180720	55957943	30	3843											
RBM28	55131	broad.mit.edu	37	chr7	127975996	127975996	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttcttcatcatcatcAtcgtcatcatcatcgttttc	2	14	9	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr7:127975996A>G	ENST00000223073.2	-	7	828	c.714T>C	c.(712-714)gaT>gaC	p.D238D	RBM28_ENST00000415472.2_Silent_p.D97D	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28		Asp/Glu-rich (acidic).				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						catcatcatcatcgtcatcat	0.398													False	0	True	7:127975996	0	G	127975996	A	G	127975996	2	3	47	1	0	0	0	0	0	0	0	1	13207	214	8	4		4	RBM28	7	127975996	Silent	SNP	A	TCGA-FB-AAQ1-01A-12D-A40W-08	24795276	127975996	31162667	31	3844											
NRF1	4899	broad.mit.edu	37	chr7	129349051	129349051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtccggagtgatgtccGcacagaagagcaaaagcaga	12	8	0	4			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr7:129349051G>A	ENST00000393232.1	+	6	860	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	248					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.R248L(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AGTGATGTCCGCACAGAAGAG	0.493													False	0	False	7:129349051	0	A	129349051	G	A	129349051	3	1	47	1	0	0	0	0	1	0	0	0	10714	1087	38	1	761	1	NRF1	7	129349051	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	1373055	129349051	29789612	32	3845											
EBF2	64641	broad.mit.edu	37	chr8	25890660	25890660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacagcttttcttttcGcagcatcgactgtagattgg	8	10	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:25890660G>A	ENST00000520164.1	-	6	1029	c.492C>T	c.(490-492)tgC>tgT	p.C164C	EBF2_ENST00000408929.3_Silent_p.C16C	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	164					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTTTCTTTTCGCAGCATCGAC	0.393													False	0	False	8:25890660	0	A	25890660	G	A	25890660	2	1	47	1	0	0	0	0	0	0	0	1	4911	1079	38	1		1	EBF2	8	25890660	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		25890660	120473362	33	3846											
INTS9	55756	broad.mit.edu	37	chr8	28669965	28669965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaggagtcacctggaccGcaccaaaaagctcctaaaag	9	12	2	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:28669965G>A	ENST00000416984.2	-	7	919	c.560C>T	c.(559-561)gCg>gTg	p.A187V	INTS9_ENST00000397363.4_Missense_Mutation_p.A102V|INTS9_ENST00000521777.1_Missense_Mutation_p.A184V|INTS9_ENST00000521022.1_Missense_Mutation_p.A208V	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	208					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CACCTGGACCGCACCAAAAAG	0.463													False	0	False	8:28669965	0	A	28669965	G	A	28669965	3	1	47	1	0	0	0	0	1	0	0	0	7835	1087	38	1	1393	1	INTS9	8	28669965	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	2779305	28669965	117694057	34	3847											
WRN	7486	broad.mit.edu	37	chr8	31004955	31004955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttcccccagctattctgGcaacaaacaagatactggtg	8	11	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:31004955G>A	ENST00000298139.5	+	30	3784	c.3535G>A	c.(3535-3537)Gca>Aca	p.A1179T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1179	HRDC.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGCTATTCTGGCAACAAACAA	0.338			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				False	0	False	8:31004955	0	A	31004955	G	A	31004955	3	1	47	1	0	0	0	0	1	0	0	0	17486	1203	42	2	3649	2	WRN	8	31004955	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	2334990	31004955	115359067	35	3848											
KCNB2	9312	broad.mit.edu	37	chr8	73848256	73848256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggagctgcaggaaacggaCgaatttggacaactcaatga	12	9	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr8:73848256C>T	ENST00000523207.1	+	3	1254	c.666C>T	c.(664-666)gaC>gaT	p.D222D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	222					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGGAAACGGACGAATTTGGAC	0.473													False	0	False	8:73848256	0	T	73848256	C	T	73848256	2	4	47	1	0	0	0	0	0	0	0	1	8063	535	19	1		1	KCNB2	8	73848256	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	42843301	73848256	72515766	36	3849											
TOR2A	27433	broad.mit.edu	37	chr9	130496760	130496760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtgggggctgggtcccGcacaaaggccttcagcgcct	15	13	1	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr9:130496760G>A	ENST00000373281.5	-	2	258	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	TOR2A_ENST00000458505.3_Intron|TOR2A_ENST00000373284.5_Missense_Mutation_p.R79W|TOR2A_ENST00000336067.6_Missense_Mutation_p.R79W|TOR2A_ENST00000472723.1_5'UTR	NM_130459.3	NP_569726.2	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	79					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						GCTGGGTCCCGCACAAAGGCC	0.662											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	9:130496760	0	A	130496760	G	A	130496760	3	1	47	1	0	0	0	0	1	0	0	0	16458	1086	38	1	915	1	TOR2A	9	130496760	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		130496760	10716671	37	3850											
ODF2	4957	broad.mit.edu	37	chr9	131256879	131256879	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgaagctggctgagtgccaaGaccaactgcagggctatgag	14	10	0	3			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr9:131256879G>T	ENST00000434106.3	+	17	2206	c.1843G>T	c.(1843-1845)Gac>Tac	p.D615Y	ODF2_ENST00000546203.1_Missense_Mutation_p.D596Y|ODF2_ENST00000372807.5_Missense_Mutation_p.D610Y|ODF2_ENST00000444119.2_Missense_Mutation_p.D591Y|ODF2_ENST00000372791.3_Missense_Mutation_p.D596Y|ODF2_ENST00000372814.3_Missense_Mutation_p.D659Y|ODF2_ENST00000393533.2_Missense_Mutation_p.D615Y|ODF2_ENST00000604420.1_Missense_Mutation_p.D615Y|ODF2_ENST00000393527.3_Missense_Mutation_p.D591Y|ODF2_ENST00000351030.3_Missense_Mutation_p.D610Y|ODF2_ENST00000448249.3_Missense_Mutation_p.D534Y	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TGAGTGCCAAGACCAACTGCA	0.582													False	0	False	9:131256879	0	T	131256879	G	T	131256879	3	4	47	1	0	0	0	0	1	0	0	0	10895	942	33	3	1960	3	ODF2	9	131256879	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	760119	131256879	9956552	38	3851											
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	18	8	0	3			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:281566A>G	ENST00000534750.1	+	4	2037	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662													False	0	True	11:281566	0	G	281566	A	G	281566	3	3	47	1	0	0	0	0	1	0	0	0	10549	304	11	4	1846	4	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-FB-AAQ1-01A-12D-A40W-08		281566	134724950	39	3852											
CD81	975	broad.mit.edu	37	chr11	2411735	2411735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctgggagacaagcccGcgcccaacaccttctatgta	11	13	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:2411735G>A	ENST00000263645.5	+	2	416	c.160G>A	c.(160-162)Gcg>Acg	p.A54T	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A92T|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000526072.1_5'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	54					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGACAAGCCCGCGCCCAACAC	0.617													False	0	True	11:2411735	0	A	2411735	G	A	2411735	3	1	47	1	0	0	0	0	1	0	0	0	3062	1087	38	1	166	1	CD81	11	2411735	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	2130169	2411735	132594781	40	3853											
TPCN2	219931	broad.mit.edu	37	chr11	68853221	68853221	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacttcgatgactttgcgGtgagccctgcgccctgtccc	10	15	0	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:68853221G>A	ENST00000294309.3	+	21	2021		c.e21+1		TPCN2_ENST00000542467.1_Intron|TPCN2_ENST00000442692.2_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGACTTTGCGGTGAGCCCTGC	0.687													False	0	False	11:68853221	0	A	68853221	G	A	68853221	5	1	47	1	0	0	0	0	0	0	1	0	16479	1275	44	2	2003	2	TPCN2	11	68853221	Splice_Site	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	66441486	68853221	66153295	41	3854											
MMP13	4322	broad.mit.edu	37	chr11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgttatcgtcaagtttgCcagtcacctctaagccgaag	10	10	3	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:102826101C>T	ENST00000260302.3	-	2	270	c.242G>A	c.(241-243)gGc>gAc	p.G81D	MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	81					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTCAAGTTTGCCAGTCACCTC	0.473													False	0	False	11:102826101	0	T	102826101	C	T	102826101	3	4	47	1	0	0	0	0	1	0	0	0	9719	739	26	2	1209	2	MMP13	11	102826101	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	33972880	102826101	32180415	42	3855											
PRDM10	56980	broad.mit.edu	37	chr11	129800938	129800938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttggctctgcgcatgtcGtcggctgtcagcgtgctctg	14	13	3	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr11:129800938G>A	ENST00000358825.5	-	11	1734	c.1503C>T	c.(1501-1503)gaC>gaT	p.D501D	PRDM10_ENST00000528746.1_Silent_p.D475D|PRDM10_ENST00000423662.2_Silent_p.D415D|PRDM10_ENST00000360871.3_Silent_p.D501D|PRDM10_ENST00000304538.6_Silent_p.D415D|PRDM10_ENST00000526082.1_Silent_p.D415D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGCGCATGTCGTCGGCTGTCA	0.622													False	0	False	11:129800938	0	A	129800938	G	A	129800938	2	1	47	1	0	0	0	0	0	0	0	1	12527	1136	40	1		1	PRDM10	11	129800938	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	26974837	129800938	5205578	43	3856											
GRIN2B	2904	broad.mit.edu	37	chr12	13717533	13717533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagttcattacagactggCgctcctcgatcgccacccca	10	15	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:13717533C>T	ENST00000609686.1	-	13	2848	c.2639G>A	c.(2638-2640)cGc>cAc	p.R880H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R880P(1)|p.R880H(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TACAGACTGGCGCTCCTCGAT	0.537													False	0	False	12:13717533	0	T	13717533	C	T	13717533	3	4	47	1	0	0	0	0	1	0	0	0	6827	768	27	1	1819	1	GRIN2B	12	13717533	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08		13717533	120134362	44	3857											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	47	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	11680751	25398284	108453611	45	3858											
TMTC1	83857	broad.mit.edu	37	chr12	29659861	29659861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattttccttcagcagtttgCtgtctggaaccagctgtaag	10	9	2	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:29659861C>T	ENST00000256062.5	-	18	2716	c.2243G>A	c.(2242-2244)aGc>aAc	p.S748N	TMTC1_ENST00000539277.1_Missense_Mutation_p.S856N|TMTC1_ENST00000552618.1_Missense_Mutation_p.S880N|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.S918N	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	856						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CAGCAGTTTGCTGTCTGGAAC	0.443													False	0	False	12:29659861	0	T	29659861	C	T	29659861	3	4	47	1	0	0	0	0	1	0	0	0	16342	797	28	2	85	2	TMTC1	12	29659861	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	4261577	29659861	104192034	46	3859											
FAM19A2	338811	broad.mit.edu	37	chr12	62148670	62148670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccatccacacatgatggaGcagctcgcgtggtgcctgcc	11	15	0	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:62148670G>T	ENST00000416284.3	-	3	1826	c.242C>A	c.(241-243)gCt>gAt	p.A81D	FAM19A2_ENST00000551619.1_Missense_Mutation_p.A81D|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	81						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		ACATGATGGAGCAGCTCGCGT	0.498													False	0	False	12:62148670	0	T	62148670	G	T	62148670	3	4	47	1	0	0	0	0	1	0	0	0	5568	971	34	3	165	3	FAM19A2	12	62148670	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	32488809	62148670	71703225	47	3860											
DNAH10	196385	broad.mit.edu	37	chr12	124397822	124397822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagaggcggctgattgccGcagacaaactcatctcgggt	14	10	2	3			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr12:124397822G>A	ENST00000409039.3	+	59	9983	c.9958G>A	c.(9958-9960)Gca>Aca	p.A3320T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3320					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTGATTGCCGCAGACAAACT	0.537													False	0	False	12:124397822	0	A	124397822	G	A	124397822	3	1	47	1	0	0	0	0	1	0	0	0	4628	1087	38	1	10192	1	DNAH10	12	124397822	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	62249152	124397822	9454073	48	3861											
SLC7A7	9056	broad.mit.edu	37	chr14	23244654	23244654	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	catccttgagttcacttacaTtgaagagcagagaaggcact	9	9	1	4			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:23244654T>A	ENST00000397532.3	-	7	1619	c.1094A>T	c.(1093-1095)aAt>aTt	p.N365I	SLC7A7_ENST00000554517.1_Splice_Site_p.N99I|SLC7A7_ENST00000397529.2_Splice_Site_p.N365I|SLC7A7_ENST00000555702.1_Splice_Site_p.N365I|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000285850.7_Splice_Site_p.N365I|SLC7A7_ENST00000397528.4_Splice_Site_p.N365I			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	365			N -> Y (in LPI).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TTCACTTACATTGAAGAGCAG	0.473													False	0	False	14:23244654	0	A	23244654	T	A	23244654	5	1	47	1	0	0	0	0	0	0	1	0	14783	1507	52	5	457	5	SLC7A7	14	23244654	Splice_Site	SNP	T	TCGA-FB-AAQ1-01A-12D-A40W-08		23244654	84104886	49	3862											
FBXO33	254170	broad.mit.edu	37	chr14	39868915	39868915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaatcaatgctttcttcGgtgacttcaagcactttcag	6	10	5	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:39868915G>A	ENST00000298097.7	-	4	1810	c.1473C>T	c.(1471-1473)acC>acT	p.T491T	FBXO33_ENST00000554190.1_3'UTR	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	491										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TGCTTTCTTCGGTGACTTCAA	0.478													False	0	False	14:39868915	0	A	39868915	G	A	39868915	2	1	47	1	0	0	0	0	0	0	0	1	5783	1103	39	1		1	FBXO33	14	39868915	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	16624261	39868915	67480625	50	3863											
EIF2B2	8892	broad.mit.edu	37	chr14	75473358	75473358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacactctggcactggcaGcaaaacaccattccacccca	5	18	2	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr14:75473358G>A	ENST00000266126.5	+	6	852	c.772G>A	c.(772-774)Gca>Aca	p.A258T	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	258					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GGCACTGGCAGCAAAACACCA	0.498													False	0	False	14:75473358	0	A	75473358	G	A	75473358	3	1	47	1	0	0	0	0	1	0	0	0	5031	971	34	2	794	2	EIF2B2	14	75473358	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	35604443	75473358	31876182	51	3864											
TYRO3	7301	broad.mit.edu	37	chr15	41857341	41857342	+	Splice_Site	INS	-	-	G													cagtcctgtacagttcaggtINSaggctctccgggccgggcca							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579													False	0	False	15:41857341	0	G	41857342	-	G	41857341	8	5	47	1	0	1	1	0	0	0	1	0	16898	1652	57	0	807	0	TYRO3	15	41857341	Splice_Site	INS	-	TCGA-FB-AAQ1-01A-12D-A40W-08		41857341	60674051	52	3865											
DNAH3	55567	broad.mit.edu	37	chr16	20975272	20975272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacatcggctcgatgttggCcaggtccgagatacaaaaga	12	9	0	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr16:20975272C>T	ENST00000261383.3	-	53	9933	c.9934G>A	c.(9934-9936)Gcc>Acc	p.A3312T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3312					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCGATGTTGGCCAGGTCCGAG	0.507													False	0	False	16:20975272	0	T	20975272	C	T	20975272	3	4	47	1	0	0	0	0	1	0	0	0	4633	739	26	2	2455	2	DNAH3	16	20975272	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08		20975272	69379481	53	3866											
SMCHD1	23347	broad.mit.edu	37	chr18	2666912	2666912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttatacctgctacagtcGgtcaatcagttactactgac	6	12	2	1	rs7229488		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr18:2666912G>A	ENST00000320876.6	+	3	644	c.306G>A	c.(304-306)tcG>tcA	p.S102S	SMCHD1_ENST00000261598.8_Silent_p.S102S	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	102					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGCTACAGTCGGTCAATCAGT	0.388													False	0	False	18:2666912	0	A	2666912	G	A	2666912	2	1	47	1	0	0	0	0	0	0	0	1	14868	1103	39	1		1	SMCHD1	18	2666912	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		2666912	75410336	54	3867											
C18orf8	29919	broad.mit.edu	37	chr18	21099089	21099089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaataggacgggaaagtttgCcctgaacgtggtggacaacc	13	8	0	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr18:21099089C>T	ENST00000269221.3	+	9	910	c.800C>T	c.(799-801)gCc>gTc	p.A267V	C18orf8_ENST00000590868.1_Missense_Mutation_p.A219V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	267										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGAAAGTTTGCCCTGAACGTG	0.428													False	0	True	18:21099089	0	T	21099089	C	T	21099089	3	4	47	1	0	0	0	0	1	0	0	0	1922	739	26	2	834	2	C18orf8	18	21099089	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	18432177	21099089	56978159	55	3868											
PIAS2	9063	broad.mit.edu	37	chr18	44470558	44470558	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacctaaactcgtgggctTgatgagaacatcaaggacat	9	9	1	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr18:44470558T>C	ENST00000585916.1	-	2	483	c.484A>G	c.(484-486)Aag>Gag	p.K162E	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Missense_Mutation_p.K162E	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	162	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CTCGTGGGCTTGATGAGAACA	0.398													False	0	False	18:44470558	0	C	44470558	T	C	44470558	3	2	47	1	0	0	0	0	1	0	0	0	11945	1821	63	4	1508	4	PIAS2	18	44470558	Missense_Mutation	SNP	T	TCGA-FB-AAQ1-01A-12D-A40W-08	23371469	44470558	33606690	56	3869											
PRAM1	84106	broad.mit.edu	37	chr19	8564207	8564207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggggtttccgggccggcGcaccaggctccggcagcgag	18	14	0	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:8564207G>A	ENST00000423345.4	-	2	1005	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PRAM1_ENST00000255612.3_Missense_Mutation_p.A162V			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	210	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CCGGGCCGGCGCACCAGGCTC	0.672													False	0	False	19:8564207	0	A	8564207	G	A	8564207	3	1	47	1	0	0	0	0	1	0	0	0	12497	1087	38	1	1560	1	PRAM1	19	8564207	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		8564207	50564776	57	3870											
ZNF560	147741	broad.mit.edu	37	chr19	9577789	9577789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtttagtaagatctgagcGttctgtgaaggcttttccac	10	7	2	3	rs145243922		TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:9577789G>A	ENST00000301480.4	-	10	2047	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R612C(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGATCTGAGCGTTCTGTGAAG	0.418													False	0	False	19:9577789	0	A	9577789	G	A	9577789	3	1	47	1	0	0	0	0	1	0	0	0	18074	1145	40	1	542	1	ZNF560	19	9577789	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	1013582	9577789	49551194	58	3871											
CILP2	148113	broad.mit.edu	37	chr19	19655586	19655586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgaaggtgcgcgcctaCgccaacgacaagttcacccc	10	15	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:19655586C>T	ENST00000586018.1	+	8	2352	c.2250C>T	c.(2248-2250)taC>taT	p.Y750Y	CILP2_ENST00000291495.5_Silent_p.Y744Y			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	744						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGCGCGCCTACGCCAACGACA	0.682													False	0	False	19:19655586	0	T	19655586	C	T	19655586	2	4	47	1	0	0	0	0	0	0	0	1	3453	547	19	1		1	CILP2	19	19655586	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	10077797	19655586	39473397	59	3872											
LRFN1	57622	broad.mit.edu	37	chr19	39804696	39804696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagctcggctgccacgagCcgacgctcagccgcagaatc	13	15	1	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:39804696C>T	ENST00000248668.4	-	1	1280	c.1281G>A	c.(1279-1281)cgG>cgA	p.R427R		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	427	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTGCCACGAGCCGACGCTCAG	0.677													False	0	False	19:39804696	0	T	39804696	C	T	39804696	2	4	47	1	0	0	0	0	0	0	0	1	8999	726	26	2		2	LRFN1	19	39804696	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	20149110	39804696	19324287	60	3873											
FCGBP	8857	broad.mit.edu	37	chr19	40368750	40368750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagcgtcacgtctacccGccagttccagtcatagctga	12	13	3	1	rs141203655	by1000genomes	TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:40368750G>A	ENST00000221347.6	-	28	12605	c.12598C>T	c.(12598-12600)Cgg>Tgg	p.R4200W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4200	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGTCTACCCGCCAGTTCCAG	0.602													False	0	True	19:40368750	0	A	40368750	G	A	40368750	3	1	47	1	0	0	0	0	1	0	0	0	5818	1086	38	1	3655	1	FCGBP	19	40368750	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	564054	40368750	18760233	61	3874											
CEACAM6	4680	broad.mit.edu	37	chr19	42260672	42260672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgaaagagtggatggcaacAgtctaattgtaggatatgta	13	4	1	1			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:42260672A>C	ENST00000199764.6	+	2	447	c.229A>C	c.(229-231)Agt>Cgt	p.S77R	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	77	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GGATGGCAACAGTCTAATTGT	0.502													False	0	False	19:42260672	0	C	42260672	A	C	42260672	3	2	47	1	0	0	0	0	1	0	0	0	3219	188	7	4	235	4	CEACAM6	19	42260672	Missense_Mutation	SNP	A	TCGA-FB-AAQ1-01A-12D-A40W-08	1891922	42260672	16868311	62	3875											
GYS1	2997	broad.mit.edu	37	chr19	49485993	49485993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacccataaaaatggccccGcacaaactcctggattcgag	8	13	0	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:49485993G>A	ENST00000323798.3	-	6	1121	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	GYS1_ENST00000263276.6_Missense_Mutation_p.R245W|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	309					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AAATGGCCCCGCACAAACTCC	0.542													False	0	True	19:49485993	0	A	49485993	G	A	49485993	3	1	47	1	0	0	0	0	1	0	0	0	6959	1086	38	1	1332	1	GYS1	19	49485993	Missense_Mutation	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08	7225321	49485993	9642990	63	3876											
HAS1	3036	broad.mit.edu	37	chr19	52217079	52217079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagccaggccgcgaaggcCgccttggccagtgccacgcc	14	18	0	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:52217079C>T	ENST00000540069.2	-	5	1395	c.1335G>A	c.(1333-1335)gcG>gcA	p.A445A	HAS1_ENST00000601714.1_Silent_p.A453A|HAS1_ENST00000222115.1_Silent_p.A446A			Q92839	HAS1_HUMAN	hyaluronan synthase 1	446					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCGCGAAGGCCGCCTTGGCCA	0.697													False	0	False	19:52217079	0	T	52217079	C	T	52217079	2	4	47	1	0	0	0	0	0	0	0	1	7008	639	23	1		1	HAS1	19	52217079	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	2731086	52217079	6911904	64	3877											
ZSCAN18	65982	broad.mit.edu	37	chr19	58600197	58600197	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcccgcaggggagcccagCagcatccctgtcaacagtgg	14	14	1	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr19:58600197C>A	ENST00000240727.6	-	3	810	c.411G>T	c.(409-411)ctG>ctT	p.L137L	ZSCAN18_ENST00000601144.1_Silent_p.L137L|ZSCAN18_ENST00000600404.1_Silent_p.L193L|ZSCAN18_ENST00000421612.2_Silent_p.L2L	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	137					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGAGCCCAGCAGCATCCCTG	0.602													False	0	False	19:58600197	0	A	58600197	C	A	58600197	2	1	47	1	0	0	0	0	0	0	0	1	18312	697	25	3		3	ZSCAN18	19	58600197	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	6383118	58600197	528786	65	3878											
AVP	551	broad.mit.edu	37	chr20	3065237	3065237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggacatggccctcttgccGcccctcgggcagttctggaa	12	15	2	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr20:3065237G>A	ENST00000380293.3	-	1	133	c.84C>T	c.(82-84)ggC>ggT	p.G28G		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	28					cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		CCCTCTTGCCGCCCCTCGGGC	0.647													False	0	True	20:3065237	0	A	3065237	G	A	3065237	2	1	47	1	0	0	0	0	0	0	0	1	1233	1074	38	1		1	AVP	20	3065237	Silent	SNP	G	TCGA-FB-AAQ1-01A-12D-A40W-08		3065237	59960283	66	3879											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-													atgcagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55													False	1	True	20:46279833	0	-	46279834	GC	-	46279833	7	5	47	1	0	1	0	1	0	0	0	0	10298	962	34	0	3859	0	NCOA3	20	46279833	Frame_Shift_Del	DEL	GC	TCGA-FB-AAQ1-01A-12D-A40W-08	43214596	46279833	16745687	67	3880											
PTPN1	5770	broad.mit.edu	37	chr20	49195731	49195731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggaaagacccttcttcCgttgatatcaagaaagtgct	9	8	2	4			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr20:49195731C>T	ENST00000371621.3	+	7	903	c.729C>T	c.(727-729)tcC>tcT	p.S243S	PTPN1_ENST00000541713.1_Silent_p.S170S	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	243	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	p.S243S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	ACCCTTCTTCCGTTGATATCA	0.483													False	0	False	20:49195731	0	T	49195731	C	T	49195731	2	4	47	1	0	0	0	0	0	0	0	1	12856	639	23	1		1	PTPN1	20	49195731	Silent	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08	2915898	49195731	13829789	68	3881											
SGSM1	129049	broad.mit.edu	37	chr22	25294312	25294312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgagttcatgtccatcaCgggcagcctggacatggccc	13	13	2	0			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr22:25294312C>T	ENST00000400358.4	+	19	2453	c.2396C>T	c.(2395-2397)aCg>aTg	p.T799M	SGSM1_ENST00000400359.4_Missense_Mutation_p.T854M	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	854	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ATGTCCATCACGGGCAGCCTG	0.612													False	0	True	22:25294312	0	T	25294312	C	T	25294312	3	4	47	1	0	0	0	0	1	0	0	0	14303	536	19	1	2639	1	SGSM1	22	25294312	Missense_Mutation	SNP	C	TCGA-FB-AAQ1-01A-12D-A40W-08		25294312	26010254	69	3882											
SAMM50	25813	broad.mit.edu	37	chr22	44384997	44384997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctttgcttaggagactAcctaggtggagaagcgtact	11	10	0	2			TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chr22:44384997A>G	ENST00000350028.4	+	13	1239	c.1082A>G	c.(1081-1083)tAc>tGc	p.Y361C	SAMM50_ENST00000396202.3_Missense_Mutation_p.Y151C	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	361					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTAGGAGACTACCTAGGTGGA	0.517													False	0	False	22:44384997	0	G	44384997	A	G	44384997	3	3	47	1	0	0	0	0	1	0	0	0	13908	391	14	4	1132	4	SAMM50	22	44384997	Missense_Mutation	SNP	A	TCGA-FB-AAQ1-01A-12D-A40W-08	19090685	44384997	6919569	70	3883											
RBMX	27316	broad.mit.edu	37	chrX	135958816	135958817	+	Splice_Site	DEL	TG	TG	-													atggaatatccaccgtcatcTgcatcaaaaatagaaaagaa							TCGA-FB-AAQ1-01A-12D-A40W-08	TCGA-FB-AAQ1-11A-11D-A40W-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e8f0e3bc-8015-4853-bd15-5c71403806f7	89c6ffd7-52a4-4066-b5bb-e826b90217af	g.chrX:135958816_135958817delTG	ENST00000562646.1	-	5	543		c.e5-2		RBMX_ENST00000565438.1_Splice_Site|RBMX_ENST00000320676.7_Splice_Site|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Splice_Site			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked							catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCGTCATCTGCATCAAAAAT	0.396													False	1	False	X:135958816	0	-	135958817	TG	-	135958816	8	5	47	1	0	1	0	1	0	0	1	0	13230	1594	55	0	863	0	RBMX	23	135958816	Splice_Site	DEL	TG	TCGA-FB-AAQ1-01A-12D-A40W-08		135958816	19311744	71	3884											
SLC25A33	84275	broad.mit.edu	37	chr1	9642431	9642431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacggcgcgcctggtgttcCgggaagaaggctaccttgcc	15	12	0	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:9642431C>T	ENST00000302692.6	+	7	1048	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	280					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGTGTTCCGGGAAGAAGG	0.488													False	0	True	1:9642431	0	T	9642431	C	T	9642431	3	4	48	1	0	0	0	0	1	0	0	0	14577	643	23	1	864	1	SLC25A33	1	9642431	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08		9642431	239608190	1	3885											
RCC2	55920	broad.mit.edu	37	chr1	17740096	17740096	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaagccccacgcccagGgaagtcaaacagcttcacca	10	15	2	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:17740096G>C	ENST00000375436.4	-	9	1331	c.1144C>G	c.(1144-1146)Cct>Gct	p.P382A	RCC2_ENST00000375433.3_Missense_Mutation_p.P382A	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	382					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CCACGCCCAGGGAAGTCAAAC	0.582													False	0	True	1:17740096	0	C	17740096	G	C	17740096	3	2	48	1	0	0	0	0	1	0	0	0	13253	1232	43	5	444	5	RCC2	1	17740096	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	8097665	17740096	231510525	2	3886											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	48	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-FB-AAQ2-01A-31D-A40W-08	5247289	22987385	226263236	3	3887											
SSBP3	23648	broad.mit.edu	37	chr1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgggtggtggtctcatgCcgctgccgtaattctgcaac	13	10	2	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	222	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGGTCTCATGCCGCTGCCGTA	0.562													False	0	False	1:54708959	0	T	54708959	C	T	54708959	3	4	48	1	0	0	0	0	1	0	0	0	15263	739	26	2	537	2	SSBP3	1	54708959	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	31721574	54708959	194541662	4	3888											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507071	74507071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaagttttgaactaataaaCgctctgaagccttttgggat	8	6	1	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:74507071C>T	ENST00000354431.4	-	7	1735	c.1544G>A	c.(1543-1545)cGt>cAt	p.R515H	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R515H	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	515								p.R515H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AACTAATAAACGCTCTGAAGC	0.363													False	0	True	1:74507071	0	T	74507071	C	T	74507071	3	4	48	1	0	0	0	0	1	0	0	0	9092	536	19	1	338	1	LRRIQ3	1	74507071	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	19798112	74507071	174743550	5	3889											
GSTM5	2949	broad.mit.edu	37	chr1	110256173	110256173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctgcgctacattgcccGcaagcacaacctgtgtgagt	9	14	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:110256173G>A	ENST00000369813.1	+	2	1027	c.122G>A	c.(121-123)cGc>cAc	p.R41H	GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000256593.3_Missense_Mutation_p.R82H|GSTM5_ENST00000369812.5_Missense_Mutation_p.R101H			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	82	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TACATTGCCCGCAAGCACAAC	0.557													False	0	True	1:110256173	0	A	110256173	G	A	110256173	3	1	48	1	0	0	0	0	1	0	0	0	6888	1087	38	1	259	1	GSTM5	1	110256173	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	35749102	110256173	138994448	6	3890											
OR6K3	391114	broad.mit.edu	37	chr1	158686997	158686997	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacactttttgaagacagaaCagttttttaatcgcattgtt	6	6	0	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:158686997C>G	ENST00000368146.1	-	1	956	c.957G>C	c.(955-957)ctG>ctC	p.L319L	OR6K3_ENST00000368145.1_Silent_p.L303L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAAGACAGAACAGTTTTTTAA	0.388													False	0	False	1:158686997	0	G	158686997	C	G	158686997	2	3	48	1	0	0	0	0	0	0	0	1	11271	465	17	5		5	OR6K3	1	158686997	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	48430824	158686997	90563624	7	3891											
ATP1A2	477	broad.mit.edu	37	chr1	160098496	160098496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaactgcctggtgaagAacctggaggcggtggagacg	18	7	0	4			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:160098496A>G	ENST00000361216.3	+	9	1161	c.1072A>G	c.(1072-1074)Aac>Gac	p.N358D	ATP1A2_ENST00000392233.3_Missense_Mutation_p.N358D	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	358					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTGGTGAAGAACCTGGAGGC	0.587													False	0	False	1:160098496	0	G	160098496	A	G	160098496	3	3	48	1	0	0	0	0	1	0	0	0	1133	246	9	4	1106	4	ATP1A2	1	160098496	Missense_Mutation	SNP	A	TCGA-FB-AAQ2-01A-31D-A40W-08	1411499	160098496	89152125	8	3892											
ATP1A4	480	broad.mit.edu	37	chr1	160151577	160151577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatctccaagactcgccGcaactcacttttccagcagg	6	16	3	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:160151577G>A	ENST00000368081.4	+	19	3311	c.2840G>A	c.(2839-2841)cGc>cAc	p.R947H	ATP1A4_ENST00000470705.1_Missense_Mutation_p.R83H|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	947					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGACTCGCCGCAACTCACTT	0.527													False	0	False	1:160151577	0	A	160151577	G	A	160151577	3	1	48	1	0	0	0	0	1	0	0	0	1135	1087	38	1	2914	1	ATP1A4	1	160151577	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	53081	160151577	89099044	9	3893											
ASTN1	460	broad.mit.edu	37	chr1	176845741	176845741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcgcttggcctggagcgcCgtcctgtgttgtccactccc	12	16	0	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:176845741C>T	ENST00000367654.3	-	21	3630	c.3419G>A	c.(3418-3420)cGg>cAg	p.R1140Q	ASTN1_ENST00000424564.2_Missense_Mutation_p.R1132Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.R1132Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.R1132Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1		Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.R1132L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCTGGAGCGCCGTCCTGTGTT	0.572													False	0	False	1:176845741	0	T	176845741	C	T	176845741	3	4	48	1	0	0	0	0	1	0	0	0	1068	652	23	1	505	1	ASTN1	1	176845741	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	16694164	176845741	72404880	10	3894											
TPO	7173	broad.mit.edu	37	chr2	1426896	1426896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accgccatgtacgccacgatGcagaggtgagccttgcggag	14	12	0	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:1426896G>T	ENST00000345913.4	+	3	265	c.174G>T	c.(172-174)atG>atT	p.M58I	TPO_ENST00000539820.1_Missense_Mutation_p.M58I|TPO_ENST00000349624.3_Missense_Mutation_p.M58I|TPO_ENST00000329066.4_Missense_Mutation_p.M58I|TPO_ENST00000382269.3_Missense_Mutation_p.M58I|TPO_ENST00000337415.3_Missense_Mutation_p.M58I|TPO_ENST00000382198.1_Missense_Mutation_p.M58I|TPO_ENST00000346956.3_Missense_Mutation_p.M58I|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.M58I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	58					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGCCACGATGCAGAGGTGAG	0.597													False	0	False	2:1426896	0	T	1426896	G	T	1426896	3	4	48	1	0	0	0	0	1	0	0	0	16493	1319	46	3	180	3	TPO	2	1426896	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		1426896	241772477	11	3895											
LTBP1	4052	broad.mit.edu	37	chr2	33572565	33572565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactgggcagtgccgctccCggacctccacaggtaagtcc	12	15	0	1	rs144093447		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:33572565C>T	ENST00000404816.2	+	26	4341	c.3988C>T	c.(3988-3990)Cgg>Tgg	p.R1330W	LTBP1_ENST00000390003.4_Missense_Mutation_p.R1005W|LTBP1_ENST00000272273.5_Missense_Mutation_p.R228W|LTBP1_ENST00000402934.1_Missense_Mutation_p.R951W|LTBP1_ENST00000407925.1_Missense_Mutation_p.R1004W|LTBP1_ENST00000354476.3_Missense_Mutation_p.R1331W|LTBP1_ENST00000404525.1_Missense_Mutation_p.R951W|LTBP1_ENST00000418533.2_Missense_Mutation_p.R962W			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1330					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.R1331R(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTGCCGCTCCCGGACCTCCAC	0.557													False	0	True	2:33572565	0	T	33572565	C	T	33572565	3	4	48	1	0	0	0	0	1	0	0	0	9135	643	23	1	4145	1	LTBP1	2	33572565	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	32145669	33572565	209626808	12	3896											
NPHP1	4867	broad.mit.edu	37	chr2	110922260	110922260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattaacaagacagaagatgCccgcctctgaaatcgctttc	8	11	1	4			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:110922260C>T	ENST00000316534.4	-	8	849	c.776G>A	c.(775-777)gGc>gAc	p.G259D	NPHP1_ENST00000393272.3_Missense_Mutation_p.G259D|NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	259					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ACAGAAGATGCCCGCCTCTGA	0.458													False	0	True	2:110922260	0	T	110922260	C	T	110922260	3	4	48	1	0	0	0	0	1	0	0	0	10647	739	26	2	1477	2	NPHP1	2	110922260	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	77349695	110922260	132277113	13	3897											
ZNF385B	151126	broad.mit.edu	37	chr2	180308122	180308122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgaggacacggctgccGccgctgcgagaggtgaggac	18	12	0	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:180308122G>A	ENST00000410066.1	-	10	1874	c.1271C>T	c.(1270-1272)gCg>gTg	p.A424V	ZNF385B_ENST00000409343.1_Missense_Mutation_p.A348V|ZNF385B_ENST00000336917.5_Missense_Mutation_p.A322V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.A322V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	424						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CACGGCTGCCGCCGCTGCGAG	0.607													False	0	False	2:180308122	0	A	180308122	G	A	180308122	3	1	48	1	0	0	0	0	1	0	0	0	17960	1087	38	1	148	1	ZNF385B	2	180308122	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	69385862	180308122	62891251	14	3898											
SETD5	55209	broad.mit.edu	37	chr3	9506122	9506122	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagacttgttgagcccAttaaagaaatggaagtctcg	9	8	2	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:9506122A>G	ENST00000402466.1	+	19	2964	c.2196A>G	c.(2194-2196)ccA>ccG	p.P732P	SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Silent_p.P830P|SETD5_ENST00000407969.1_Silent_p.P849P|SETD5_ENST00000302463.6_Silent_p.P732P|SETD5_ENST00000406341.1_Silent_p.P830P			Q9C0A6	SETD5_HUMAN	SET domain containing 5	830										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TGTTGAGCCCATTAAAGAAAT	0.428													False	0	True	3:9506122	0	G	9506122	A	G	9506122	2	3	48	1	0	0	0	0	0	0	0	1	14215	204	8	4		4	SETD5	3	9506122	Silent	SNP	A	TCGA-FB-AAQ2-01A-31D-A40W-08		9506122	188516308	15	3899											
KALRN	8997	broad.mit.edu	37	chr3	123813705	123813705	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgacggaccgcttctgggaCcagtggtatctctggtatct	12	10	3	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:123813705C>G	ENST00000360013.3	+	1	148	c.21C>G	c.(19-21)gaC>gaG	p.D7E	KALRN_ENST00000477496.1_3'UTR|KALRN_ENST00000240874.3_Missense_Mutation_p.D7E|KALRN_ENST00000460856.1_Missense_Mutation_p.D7E	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	7					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCTTCTGGGACCAGTGGTATC	0.557													False	0	False	3:123813705	0	G	123813705	C	G	123813705	3	3	48	1	0	0	0	0	1	0	0	0	8025	506	18	5	23	5	KALRN	3	123813705	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	114307583	123813705	74208725	16	3900											
RASA2	5922	broad.mit.edu	37	chr3	141292025	141292025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcctgtgaaatcgatcctAttaaattgaaagagggagat	9	5	0	4			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:141292025A>G	ENST00000286364.3	+	13	1356	c.1321A>G	c.(1321-1323)Att>Gtt	p.I441V	RASA2_ENST00000452898.1_Missense_Mutation_p.I441V			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	441	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AATCGATCCTATTAAATTGAA	0.264													False	0	False	3:141292025	0	G	141292025	A	G	141292025	3	3	48	1	0	0	0	0	1	0	0	0	13140	449	16	4	1371	4	RASA2	3	141292025	Missense_Mutation	SNP	A	TCGA-FB-AAQ2-01A-31D-A40W-08	17478320	141292025	56730405	17	3901											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	48	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-FB-AAQ2-01A-31D-A40W-08		40434705	150719571	18	3902											
PROL1	58503	broad.mit.edu	37	chr4	71275677	71275677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcaaattctcgccaaccGtcctcacacagtattgctca	4	15	4	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:71275677G>A	ENST00000399575.2	+	3	806	c.632G>A	c.(631-633)cGt>cAt	p.R211H		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	211	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTCGCCAACCGTCCTCACACA	0.448													False	0	False	4:71275677	0	A	71275677	G	A	71275677	3	1	48	1	0	0	0	0	1	0	0	0	12630	1145	40	1	638	1	PROL1	4	71275677	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	30840972	71275677	119878599	19	3903											
DSPP	1834	broad.mit.edu	37	chr4	88534264	88534264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatattatgaccctgaagGcaaagaagatccccataatg	8	8	0	5			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:88534264G>A	ENST00000399271.1	+	4	1046	c.926G>A	c.(925-927)gGc>gAc	p.G309D	DSPP_ENST00000282478.7_Missense_Mutation_p.G309D|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	309					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GACCCTGAAGGCAAAGAAGAT	0.438													False	0	False	4:88534264	0	A	88534264	G	A	88534264	3	1	48	1	0	0	0	0	1	0	0	0	4812	1203	42	2	936	2	DSPP	4	88534264	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	17258587	88534264	102620012	20	3904											
TET2	54790	broad.mit.edu	37	chr4	106155430	106155430	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctccttcagatcaagAaattgaaacaagaccaaaag	8	9	2	4			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:106155430A>T	ENST00000540549.1	+	3	1191	c.331A>T	c.(331-333)Aaa>Taa	p.K111*	TET2_ENST00000545826.1_Nonsense_Mutation_p.K111*|TET2_ENST00000305737.2_Nonsense_Mutation_p.K111*|TET2_ENST00000513237.1_Nonsense_Mutation_p.K132*|TET2_ENST00000413648.2_Nonsense_Mutation_p.K111*|TET2_ENST00000380013.4_Nonsense_Mutation_p.K111*|TET2_ENST00000394764.1_Nonsense_Mutation_p.K111*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	111					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L107fs*8(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCAGATCAAGAAATTGAAACA	0.413			"Mis N, F"		MDS								False	0	True	4:106155430	0	T	106155430	A	T	106155430	4	4	48	1	0	0	0	0	0	1	0	0	15852	247	9	5	333	5	TET2	4	106155430	Nonsense_Mutation	SNP	A	TCGA-FB-AAQ2-01A-31D-A40W-08	17621166	106155430	84998846	21	3905											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239387	5239387	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcaccaccacaccaacCgtgagtactttagagctgcc	7	16	0	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:5239387C>T	ENST00000274181.7	+	15	2416	c.2278C>T	c.(2278-2280)Cag>Tag	p.Q760*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	760	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCACACCAACCGTGAGTACTT	0.512													False	0	False	5:5239387	0	T	5239387	C	T	5239387	5	4	48	1	0	0	0	0	0	0	1	0	261	666	23	1	2336	1	ADAMTS16	5	5239387	Splice_Site	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08		5239387	175675873	22	3906											
DNAH5	1767	broad.mit.edu	37	chr5	13900472	13900472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacaattcccctgtgcctGgagccttcaccaataatgaa	6	13	1	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:13900472G>A	ENST00000265104.4	-	15	2206	c.2102C>T	c.(2101-2103)cCa>cTa	p.P701L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	701	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCTGTGCCTGGAGCCTTCAC	0.413									Kartagener syndrome				False	0	False	5:13900472	0	A	13900472	G	A	13900472	3	1	48	1	0	0	0	0	1	0	0	0	4634	1348	47	2	12032	2	DNAH5	5	13900472	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	8661085	13900472	167014788	23	3907											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	48	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-FB-AAQ2-01A-31D-A40W-08	64709972	78610444	102304816	24	3908											
TTC37	9652	broad.mit.edu	37	chr5	94803623	94803623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctcagtaggtaccaacGtgcagttgatgcaatagatt	11	7	1	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:94803623G>A	ENST00000358746.2	-	42	4865	c.4567C>T	c.(4567-4569)Cgt>Tgt	p.R1523C		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1523							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGGTACCAACGTGCAGTTGAT	0.358													False	0	False	5:94803623	0	A	94803623	G	A	94803623	3	1	48	1	0	0	0	0	1	0	0	0	16789	1145	40	1	135	1	TTC37	5	94803623	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	16193179	94803623	86111637	25	3909											
GABRA6	2559	broad.mit.edu	37	chr5	161128572	161128572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccaatagtttcatcttcCgaggccaataaagtgctcac	7	11	3	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:161128572C>T	ENST00000523217.1	+	9	1367	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	GABRA6_ENST00000274545.5_Silent_p.S385S	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	385					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.S385S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTCATCTTCCGAGGCCAATA	0.453										TCGA Ovarian(5;0.080)			False	0	False	5:161128572	0	T	161128572	C	T	161128572	2	4	48	1	0	0	0	0	0	0	0	1	6207	639	23	1		1	GABRA6	5	161128572	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	66324949	161128572	19786688	26	3910											
LAMA4	3910	broad.mit.edu	37	chr6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttcacagttaggtccaGcataattttcgttacaaatg	6	9	1	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388													False	0	False	6:112522827	0	A	112522827	G	A	112522827	3	1	48	1	0	0	0	0	1	0	0	0	8659	971	34	2	5126	2	LAMA4	6	112522827	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		112522827	58592240	27	3911											
ABCB4	5244	broad.mit.edu	37	chr7	87069091	87069091	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagggcacgtgcaatggcGatcctctgcttctgcccacc	10	16	2	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:87069091G>A	ENST00000265723.4	-	14	1734	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	ABCB4_ENST00000358400.3_Silent_p.I541I|ABCB4_ENST00000545634.1_Silent_p.I541I|ABCB4_ENST00000453593.1_Silent_p.I541I|ABCB4_ENST00000359206.3_Silent_p.I541I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	541	ABC transporter 1.		I -> F (in PFIC3).		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTGCAATGGCGATCCTCTGCT	0.532													False	0	False	7:87069091	0	A	87069091	G	A	87069091	2	1	48	1	0	0	0	0	0	0	0	1	43	1048	37	1		1	ABCB4	7	87069091	Silent	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		87069091	72069572	28	3912											
WNT2	7472	broad.mit.edu	37	chr7	116960785	116960785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacacagctgccgctggctgCtcaccaggcctggcacatta	11	15	1	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:116960785C>A	ENST00000265441.3	-	2	445	c.146G>T	c.(145-147)aGc>aTc	p.S49I	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	49					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCGCTGGCTGCTCACCAGGCC	0.592													False	0	True	7:116960785	0	A	116960785	C	A	116960785	3	1	48	1	0	0	0	0	1	0	0	0	17470	797	28	3	952	3	WNT2	7	116960785	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	29891694	116960785	42177878	29	3913											
CUL1	8454	broad.mit.edu	37	chr7	148427298	148427298	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacgacctcagagccggcatCcagcaggtgtacacacggca	12	14	1	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:148427298C>A	ENST00000325222.4	+	2	363	c.84C>A	c.(82-84)atC>atA	p.I28I	CUL1_ENST00000409469.1_Silent_p.I28I|CUL1_ENST00000602748.1_Silent_p.I28I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAGCCGGCATCCAGCAGGTGT	0.547													False	0	False	7:148427298	0	A	148427298	C	A	148427298	2	1	48	1	0	0	0	0	0	0	0	1	4079	845	30	3		3	CUL1	7	148427298	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	31466513	148427298	10711365	30	3914											
ARHGEF10	9639	broad.mit.edu	37	chr8	1857468	1857468	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttggtcgtttcagcccctctCatgacagccgtgtgatgagc	11	12	2	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:1857468C>T	ENST00000518288.1	+	19	2210	c.2047C>T	c.(2047-2049)Cat>Tat	p.H683Y	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.H684Y|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.H684Y|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.H621Y|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.H659Y			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	684					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CAGCCCCTCTCATGACAGCCG	0.502													False	0	False	8:1857468	0	T	1857468	C	T	1857468	3	4	48	1	0	0	0	0	1	0	0	0	896	826	29	2	2041	2	ARHGEF10	8	1857468	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08		1857468	144506554	31	3915											
KCNQ3	3786	broad.mit.edu	37	chr8	133150166	133150166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttatcctggaaagcatgtCgagatgcccggcagaatact	10	10	0	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:133150166C>T	ENST00000388996.4	-	12	2086	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	KCNQ3_ENST00000521134.1_Missense_Mutation_p.D436N|KCNQ3_ENST00000519445.1_Missense_Mutation_p.D556N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	556					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GAAAGCATGTCGAGATGCCCG	0.453													False	0	False	8:133150166	0	T	133150166	C	T	133150166	3	4	48	1	0	0	0	0	1	0	0	0	8134	884	31	1	968	1	KCNQ3	8	133150166	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	131292698	133150166	13213856	32	3916											
ANXA1	301	broad.mit.edu	37	chr9	75775747	75775747	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgatgaagatactctaaTtgagattttggcatcaagaa	8	5	2	5			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:75775747T>G	ENST00000376911.1	+	5	1295	c.413T>G	c.(412-414)aTt>aGt	p.I138S	ANXA1_ENST00000257497.6_Missense_Mutation_p.I138S			P04083	ANXA1_HUMAN	annexin A1	138					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GATACTCTAATTGAGATTTTG	0.358													False	0	False	9:75775747	0	G	75775747	T	G	75775747	3	3	48	1	0	0	0	0	1	0	0	0	714	1493	52	4	431	4	ANXA1	9	75775747	Missense_Mutation	SNP	T	TCGA-FB-AAQ2-01A-31D-A40W-08		75775747	65437684	33	3917											
OMD	4958	broad.mit.edu	37	chr9	95179346	95179346	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaccaagaaggagtctTtccagagatttaggaagagg	12	5	1	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:95179346T>A	ENST00000375550.4	-	2	770	c.495A>T	c.(493-495)gaA>gaT	p.E165D	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	165					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						GAAGGAGTCTTTCCAGAGATT	0.353			T	USP6	aneurysmal bone cysts								False	0	True	9:95179346	0	A	95179346	T	A	95179346	3	1	48	1	0	0	0	0	1	0	0	0	10933	1838	64	5	778	5	OMD	9	95179346	Missense_Mutation	SNP	T	TCGA-FB-AAQ2-01A-31D-A40W-08	19403599	95179346	46034085	34	3918											
ALDOB	229	broad.mit.edu	37	chr9	104187759	104187759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagctgcaggaacagtacGgtggagagctgttacggtgg	16	7	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:104187759G>A	ENST00000374855.4	-	7	899	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	259					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGAACAGTACGGTGGAGAGCT	0.507													False	0	False	9:104187759	0	A	104187759	G	A	104187759	3	1	48	1	0	0	0	0	1	0	0	0	508	1116	39	1	331	1	ALDOB	9	104187759	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	9008413	104187759	37025672	35	3919											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130649855	130649855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagcctgtgctcaaccaCgaatgagacttctccctggg	9	14	2	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:130649855C>T	ENST00000373146.1	-	6	899	c.720G>A	c.(718-720)tcG>tcA	p.S240S	ST6GALNAC6_ENST00000373141.1_Silent_p.S206S|ST6GALNAC6_ENST00000291839.5_Silent_p.S240S|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373144.3_Silent_p.S206S|ST6GALNAC6_ENST00000373142.1_Silent_p.S240S|ST6GALNAC6_ENST00000542456.1_Silent_p.S40S			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	240					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCTCAACCACGAATGAGACT	0.597													False	0	False	9:130649855	0	T	130649855	C	T	130649855	2	4	48	1	0	0	0	0	0	0	0	1	15310	523	19	1		1	ST6GALNAC6	9	130649855	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	26462096	130649855	10563576	36	3920											
GATA3	2625	broad.mit.edu	37	chr10	8100325	8100325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaccctggctggacggcgGcaaagccctgggcagccacc	13	17	0	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr10:8100325G>A	ENST00000379328.3	+	3	867	c.299G>A	c.(298-300)gGc>gAc	p.G100D	GATA3_ENST00000346208.3_Missense_Mutation_p.G100D	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	100					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CTGGACGGCGGCAAAGCCCTG	0.677			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						False	0	False	10:8100325	0	A	8100325	G	A	8100325	3	1	48	1	0	0	0	0	1	0	0	0	6298	1203	42	2	305	2	GATA3	10	8100325	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		8100325	127434422	37	3921											
PSTK	118672	broad.mit.edu	37	chr10	124746879	124746879	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagccttctcagagatgacaTttaagcaaagatgggtaaga	10	6	1	4			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr10:124746879T>C	ENST00000368887.3	+	6	1347	c.907T>C	c.(907-909)Ttt>Ctt	p.F303L	PSTK_ENST00000405485.1_3'UTR|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	303							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		agagatgacatttaagcaaag	0.423													False	0	True	10:124746879	0	C	124746879	T	C	124746879	3	2	48	1	0	0	0	0	1	0	0	0	12796	1493	52	4	929	4	PSTK	10	124746879	Missense_Mutation	SNP	T	TCGA-FB-AAQ2-01A-31D-A40W-08	116646554	124746879	10787868	38	3922											
ZC3H12C	85463	broad.mit.edu	37	chr11	110007605	110007605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaggatgaaaaagaggCgtctgaagagaatgcaagct	16	4	1	4			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:110007605C>T	ENST00000453089.2	+	1	1027	c.146C>T	c.(145-147)gCg>gTg	p.A49V	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A81V|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.A80V			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	80							endonuclease activity|nucleic acid binding|zinc ion binding	p.A80V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GAAAAAGAGGCGTCTGAAGAG	0.448													False	0	False	11:110007605	0	T	110007605	C	T	110007605	3	4	48	1	0	0	0	0	1	0	0	0	17646	768	27	1	245	1	ZC3H12C	11	110007605	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08		110007605	24998911	39	3923											
OR8B2	26595	broad.mit.edu	37	chr11	124253123	124253123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagccaaggttgcctacCatggtgacaatgtagatcac	9	10	2	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:124253123C>T	ENST00000375013.2	-	1	135	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGTTGCCTACCATGGTGACAA	0.418													False	0	False	11:124253123	0	T	124253123	C	T	124253123	3	4	48	1	0	0	0	0	1	0	0	0	11295	594	21	2	827	2	OR8B2	11	124253123	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	14245518	124253123	10753393	40	3924											
LEPREL2	10536	broad.mit.edu	37	chr12	6939687	6939687	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagaggaggatggggctgcGagccaggggggcctctatga	20	7	1	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:6939687G>A	ENST00000251761.8	+	0	855				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						ATGGGGCTGCGAGCCAGGGGG	0.642													False	0	False	12:6939687	0	A	6939687	G	A	6939687	1	1	48	0	1	0	0	0	0	0	0	0	8782	1045	37	1		1	LEPREL2	12	6939687	RNA	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		6939687	126912208	41	3925											
C1RL	51279	broad.mit.edu	37	chr12	7249506	7249506	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acacggtggacagggtggttCcccagtttcagcatctcatc	11	12	2	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:7249506C>T	ENST00000266542.4	-	6	1037	c.945G>A	c.(943-945)ggG>ggA	p.G315G	C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	315	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGGGTGGTTCCCCAGTTTCA	0.552													False	0	True	12:7249506	0	T	7249506	C	T	7249506	2	4	48	1	0	0	0	0	0	0	0	1	1988	842	30	2		2	C1RL	12	7249506	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	309819	7249506	126602389	42	3926											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	48	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	18148778	25398284	108453611	43	3927											
ACSS3	79611	broad.mit.edu	37	chr12	81647110	81647110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttcccatggtaccgtgGcagactgtgctgttgttggc	12	11	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:81647110G>A	ENST00000548058.1	+	14	2654	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T	ACSS3_ENST00000548324.1_Missense_Mutation_p.A264T|ACSS3_ENST00000261206.3_Missense_Mutation_p.A581T			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	582						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGGTACCGTGGCAGACTGTGC	0.373													False	0	False	12:81647110	0	A	81647110	G	A	81647110	3	1	48	1	0	0	0	0	1	0	0	0	190	1203	42	2	1798	2	ACSS3	12	81647110	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	56248826	81647110	52204785	44	3928											
SPERT	220082	broad.mit.edu	37	chr13	46287859	46287859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggtgaagaaggaccaCgtcgccctgcaggtgccccg	16	12	0	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr13:46287859C>T	ENST00000378966.3	+	2	1007	c.591C>T	c.(589-591)caC>caT	p.H197H	SPERT_ENST00000310521.1_Silent_p.H233H			Q8NA61	SPERT_HUMAN	spermatid associated	233						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGAAGGACCACGTCGCCCTGC	0.682													False	0	False	13:46287859	0	T	46287859	C	T	46287859	2	4	48	1	0	0	0	0	0	0	0	1	15121	535	19	1		1	SPERT	13	46287859	Silent	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08		46287859	68882019	45	3929											
DACH1	1602	broad.mit.edu	37	chr13	72147123	72147124	+	Frame_Shift_Ins	INS	-	-	GTTATTAAGGTAATTCTTTT													aattagagggtggggcatcaINStcataaaaggaagttccagt							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr13:72147123_72147124insGTTATTAAGGTAATTCTTTT	ENST00000305425.4	-	4	1575_1576	c.1153_1154insAAAAGAATTACCTTAATAAC	c.(1153-1155)atgfs	p.M385fs	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Frame_Shift_Ins_p.M437fs|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	435					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GTGGGGCATCATCATAAAAGGA	0.406													False	0	True	13:72147123	0	GTTATTAAGGTAATTCTTTT	72147124	-	GTTATTAAGGTAATTCTTTT	72147123	7	5	48	1	0	1	1	0	0	0	0	0	4245	217	8	0	1004	0	DACH1	13	72147123	Frame_Shift_Ins	INS	-	TCGA-FB-AAQ2-01A-31D-A40W-08	25859264	72147123	43022755	46	3930											
IPO5	3843	broad.mit.edu	37	chr13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcacatcgttgagaatgCggttcaaaaagaactgagac	11	7	1	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr13:98658520C>T	ENST00000261574.5	+	17	1868	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	545					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378													False	0	False	13:98658520	0	T	98658520	C	T	98658520	3	4	48	1	0	0	0	0	1	0	0	0	7846	768	27	1	1746	1	IPO5	13	98658520	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	26511397	98658520	16511358	47	3931											
ZFYVE26	23503	broad.mit.edu	37	chr14	68233050	68233050	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagcagcccggcatccacctCtgggttggtgaggcccttgg	15	13	1	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr14:68233050C>T	ENST00000347230.4	-	32	6043	c.5905G>A	c.(5905-5907)Gag>Aag	p.E1969K	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1969K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1969					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCATCCACCTCTGGGTTGGTG	0.577													False	0	False	14:68233050	0	T	68233050	C	T	68233050	3	4	48	1	0	0	0	0	1	0	0	0	17751	922	32	2	1758	2	ZFYVE26	14	68233050	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08		68233050	39116490	48	3932											
PLA2G4D	283748	broad.mit.edu	37	chr15	42362977	42362977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcctgcggcctggccGgaacatggagggagagctgg	18	11	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:42362977G>A	ENST00000290472.3	-	18	2075	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	661	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGGCCTGGCCGGAACATGGAG	0.657													False	0	False	15:42362977	0	A	42362977	G	A	42362977	3	1	48	1	0	0	0	0	1	0	0	0	12073	1115	39	1	487	1	PLA2G4D	15	42362977	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		42362977	60168415	49	3933											
UBL7	84993	broad.mit.edu	37	chr15	74743165	74743165	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcaagcatattgggatcagCgaagacagagaagaggtcct	12	7	2	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:74743165C>A	ENST00000567435.1	-	6	971	c.508G>T	c.(508-510)Gct>Tct	p.A170S	UBL7_ENST00000565335.1_Missense_Mutation_p.A170S|UBL7_ENST00000395081.2_Missense_Mutation_p.A170S|UBL7_ENST00000361351.4_Missense_Mutation_p.A170S|UBL7_ENST00000564488.1_Missense_Mutation_p.A170S			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	170							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TTGGGATCAGCGAAGACAGAG	0.502													False	0	False	15:74743165	0	A	74743165	C	A	74743165	3	1	48	1	0	0	0	0	1	0	0	0	16974	768	27	3	658	3	UBL7	15	74743165	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	32380188	74743165	27788227	50	3934											
RASGRF1	5923	broad.mit.edu	37	chr15	79350772	79350772	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctccacgatctgcagcagGtgcaggtatttctgcattaa	10	10	3	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:79350772G>T	ENST00000419573.3	-	3	709	c.435C>A	c.(433-435)caC>caA	p.H145Q	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.H145Q	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	145					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCTGCAGCAGGTGCAGGTATT	0.562													False	0	True	15:79350772	0	T	79350772	G	T	79350772	3	4	48	1	0	0	0	0	1	0	0	0	13151	1252	44	3	3490	3	RASGRF1	15	79350772	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	4607607	79350772	23180620	51	3935											
FAM169B	283777	broad.mit.edu	37	chr15	98995216	98995216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagcaggtagcatgcacCggtgccatcaccacacagtc	11	14	1	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:98995216C>T	ENST00000558256.1	-	5	457	c.208G>A	c.(208-210)Ggt>Agt	p.G70S	FAM169B_ENST00000332908.4_Missense_Mutation_p.G70S	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	70										large_intestine(3)|lung(3)|urinary_tract(1)	7						TAGCATGCACCGGTGCCATCA	0.592													False	0	False	15:98995216	0	T	98995216	C	T	98995216	3	4	48	1	0	0	0	0	1	0	0	0	5524	652	23	1	382	1	FAM169B	15	98995216	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	19644444	98995216	3536176	52	3936											
WDR90	197335	broad.mit.edu	37	chr16	701015	701015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctctggggcccagtggGcaaagctgcccgtgactcct	12	15	1	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:701015G>A	ENST00000549091.1	+	6	672	c.580G>A	c.(580-582)Gca>Aca	p.A194T	WDR90_ENST00000293879.4_Missense_Mutation_p.A194T	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	194										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCCAGTGGGCAAAGCTGCC	0.607													False	0	True	16:701015	0	A	701015	G	A	701015	3	1	48	1	0	0	0	0	1	0	0	0	17421	1203	42	2	602	2	WDR90	16	701015	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		701015	89653738	53	3937											
IL4R	3566	broad.mit.edu	37	chr16	27367137	27367166	+	In_Frame_Del	DEL	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	-													tcccacttccagcctacaggGagcccttcgagcagcacctc							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	-	-	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:27367137_27367166delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	ENST00000395762.2	+	8	938_967	c.679_708delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	c.(679-708)gagcccttcgagcagcacctcctgctgggcdel	p.EPFEQHLLLG227del	IL4R_ENST00000543915.2_In_Frame_Del_p.EPFEQHLLLG227del|IL4R_ENST00000170630.2_In_Frame_Del_p.EPFEQHLLLG227del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_In_Frame_Del_p.EPFEQHLLLG212del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	227					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AGCCTACAGGGAGCCCTTCGAGCAGCACCTCCTGCTGGGCGTCAGCGTTT	0.622													False	1	False	16:27367137	0	-	27367166	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	-	27367137	7	5	48	1	0	1	0	1	0	0	0	0	7748	1175	41	0	719	0	IL4R	16	27367137	In_Frame_Del	DEL	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	TCGA-FB-AAQ2-01A-31D-A40W-08	26666122	27367137	62987616	54	3938											
IRX6	79190	broad.mit.edu	37	chr16	55362807	55362807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagagggccgattggagcGcagggagtgcggcctggctg	20	9	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:55362807G>A	ENST00000290552.7	+	5	2249	c.917G>A	c.(916-918)cGc>cAc	p.R306H	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	306						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CGATTGGAGCGCAGGGAGTGC	0.662													False	0	False	16:55362807	0	A	55362807	G	A	55362807	3	1	48	1	0	0	0	0	1	0	0	0	7898	1087	38	1	935	1	IRX6	16	55362807	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	27995670	55362807	34991946	55	3939											
TP53	7157	broad.mit.edu	37	chr17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgcgccggtctctcccagGacaggcacaaacacgcacct	10	16	1	0	rs17849781		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:7577106G>A	ENST00000420246.2	-	8	964	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCTCCCAGGACAGGCACAA	0.552		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)			False	0	False	17:7577106	0	A	7577106	G	A	7577106	3	1	48	1	0	0	0	0	1	0	0	0	16464	1174	41	2	454	2	TP53	17	7577106	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		7577106	73618104	56	3940											
KRTAP9-3	83900	broad.mit.edu	37	chr17	39389124	39389124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaccagagctgtggctccaActgctgccagccctgctgcc	10	16	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:39389124A>G	ENST00000411528.2	+	1	410	c.371A>G	c.(370-372)aAc>aGc	p.N124S		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	124	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGTGGCTCCAACTGCTGCCAG	0.597													False	0	False	17:39389124	0	G	39389124	A	G	39389124	3	3	48	1	0	0	0	0	1	0	0	0	8625	43	2	4	373	4	KRTAP9-3	17	39389124	Missense_Mutation	SNP	A	TCGA-FB-AAQ2-01A-31D-A40W-08	31812018	39389124	41806086	57	3941											
CCDC40	55036	broad.mit.edu	37	chr17	78039368	78039368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggtgggcatgaagcacCgcgacgaggcgcacagggcg	18	12	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:78039368C>T	ENST00000397545.4	+	10	1552	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	CCDC40_ENST00000374877.3_Missense_Mutation_p.R509C|CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000269318.5_Missense_Mutation_p.R509C	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	509					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		p.R509G(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CATGAAGCACCGCGACGAGGC	0.692													False	0	False	17:78039368	0	T	78039368	C	T	78039368	3	4	48	1	0	0	0	0	1	0	0	0	2833	652	23	1	1563	1	CCDC40	17	78039368	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	38650244	78039368	3155842	58	3942											
RNF152	220441	broad.mit.edu	37	chr18	59483165	59483165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgaggaggaagaccaagaCgcaagccaccaagatgacag	13	11	0	4			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr18:59483165C>T	ENST00000312828.3	-	2	1631	c.532G>A	c.(532-534)Gtc>Atc	p.V178I		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	178					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AAGACCAAGACGCAAGCCACC	0.592													False	0	False	18:59483165	0	T	59483165	C	T	59483165	3	4	48	1	0	0	0	0	1	0	0	0	13532	536	19	1	83	1	RNF152	18	59483165	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08		59483165	18594083	59	3943											
ZNF536	9745	broad.mit.edu	37	chr19	30935540	30935540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaggtgttcagccaggcGtggttcctcaagggtcacat	14	10	4	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:30935540G>A	ENST00000355537.3	+	2	1218	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGCCAGGCGTGGTTCCTCA	0.652													False	0	False	19:30935540	0	A	30935540	G	A	30935540	2	1	48	1	0	0	0	0	0	0	0	1	18057	1132	40	1		1	ZNF536	19	30935540	Silent	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		30935540	28193443	60	3944											
RYR1	6261	broad.mit.edu	37	chr19	39016037	39016037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggtactctgtgcagacGtcactgatcgtggccacact	11	13	2	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:39016037G>A	ENST00000355481.4	+	70	10637	c.10506G>A	c.(10504-10506)acG>acA	p.T3502T	RYR1_ENST00000359596.3_Silent_p.T3507T|RYR1_ENST00000360985.3_Silent_p.T3507T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3507					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGTGCAGACGTCACTGATCG	0.627													False	0	False	19:39016037	0	A	39016037	G	A	39016037	2	1	48	1	0	0	0	0	0	0	0	1	13847	1132	40	1		1	RYR1	19	39016037	Silent	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	8080497	39016037	20112946	61	3945											
CEACAM4	1089	broad.mit.edu	37	chr19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctcgaccactgtatgCggcccctgggatatttgctt	10	12	1	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral to plasma membrane|membrane fraction		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488													False	0	False	19:42132119	0	T	42132119	C	T	42132119	3	4	48	1	0	0	0	0	1	0	0	0	3217	768	27	1	478	1	CEACAM4	19	42132119	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	3116082	42132119	16996864	62	3946											
TEX101	83639	broad.mit.edu	37	chr19	43922079	43922079	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccaacctgtgtggctttgggGacctgtttcagtgctccttc	11	12	1	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:43922079G>T	ENST00000602198.1	+	7	937	c.495G>T	c.(493-495)ggG>ggT	p.G165G	TEX101_ENST00000598265.1_Silent_p.G147G|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Silent_p.G165G	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	147						anchored to membrane|plasma membrane		p.G165G(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGGCTTTGGGGACCTGTTTCA	0.493													False	0	True	19:43922079	0	T	43922079	G	T	43922079	2	4	48	1	0	0	0	0	0	0	0	1	15855	1161	41	3		3	TEX101	19	43922079	Silent	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	1789960	43922079	15206904	63	3947											
PRKD2	25865	broad.mit.edu	37	chr19	47193872	47193872	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttacctgcagaatggccacTtcattccggagctggctctc	10	13	2	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:47193872T>C	ENST00000433867.1	-	14	2271	c.1794A>G	c.(1792-1794)gaA>gaG	p.E598E	PRKD2_ENST00000291281.4_Silent_p.E598E|PRKD2_ENST00000600194.1_Silent_p.E441E|PRKD2_ENST00000601806.1_Silent_p.E441E|PRKD2_ENST00000595515.1_Silent_p.E598E	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	598	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GAATGGCCACTTCATTCCGGA	0.577													False	0	False	19:47193872	0	C	47193872	T	C	47193872	2	2	48	1	0	0	0	0	0	0	0	1	12595	1606	56	4		4	PRKD2	19	47193872	Silent	SNP	T	TCGA-FB-AAQ2-01A-31D-A40W-08	3271793	47193872	11935111	64	3948											
SULT2B1	6820	broad.mit.edu	37	chr19	49079301	49079301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagaacacccaagatgtgCgggacgacgacatctttatc	11	11	1	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:49079301C>T	ENST00000323090.4	+	1	505	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	SULT2B1_ENST00000201586.2_Missense_Mutation_p.R59W	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	59					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CCAAGATGTGCGGGACGACGA	0.632													False	0	True	19:49079301	0	T	49079301	C	T	49079301	3	4	48	1	0	0	0	0	1	0	0	0	15464	759	27	1	207	1	SULT2B1	19	49079301	Missense_Mutation	SNP	C	TCGA-FB-AAQ2-01A-31D-A40W-08	1885429	49079301	10049682	65	3949											
NUP62	23636	broad.mit.edu	37	chr19	50412073	50412073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcaggctctccagctgcGcgtaggtcatggcggagctg	15	11	3	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:50412073G>A	ENST00000596217.1	-	2	2879	c.992C>T	c.(991-993)gCg>gTg	p.A331V	NUP62_ENST00000352066.3_Missense_Mutation_p.A331V|NUP62_ENST00000597029.1_Missense_Mutation_p.A331V|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.A331V|IL4I1_ENST00000341114.3_Intron|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.A331V			P37198	NUP62_HUMAN	nucleoporin 62kDa	331	Ala-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTCCAGCTGCGCGTAGGTCAT	0.682													False	0	False	19:50412073	0	A	50412073	G	A	50412073	3	1	48	1	0	0	0	0	1	0	0	0	10836	1087	38	1	580	1	NUP62	19	50412073	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	1332772	50412073	8716910	66	3950											
ZNF845	91664	broad.mit.edu	37	chr19	53855452	53855452	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagctttcagtttcaaatcAaaccttgaaagacataggat	7	7	3	2			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:53855452A>G	ENST00000458035.1	+	4	1641	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000595091.1_Silent_p.S508S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388													False	0	True	19:53855452	0	G	53855452	A	G	53855452	2	3	48	1	0	0	0	0	0	0	0	1	18273	117	5	4		4	ZNF845	19	53855452	Silent	SNP	A	TCGA-FB-AAQ2-01A-31D-A40W-08	3443379	53855452	5273531	67	3951											
TM9SF4	9777	broad.mit.edu	37	chr20	30749115	30749115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaatttcctagtctccGggggctctgcattctacgtc	11	11	3	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr20:30749115G>A	ENST00000217315.5	+	17	2015	c.1675G>A	c.(1675-1677)Ggg>Agg	p.G559R	TM9SF4_ENST00000398022.2_Missense_Mutation_p.G576R			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	576						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTAGTCTCCGGGGGCTCTGC	0.502													False	0	True	20:30749115	0	A	30749115	G	A	30749115	3	1	48	1	0	0	0	0	1	0	0	0	16062	1116	39	1	1792	1	TM9SF4	20	30749115	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		30749115	32276405	68	3952											
ZNF831	128611	broad.mit.edu	37	chr20	57769239	57769239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaggctacctcctccccGcccactccaacgtgtgaggc	11	17	0	1			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr20:57769239G>A	ENST00000371030.2	+	1	3165	c.3165G>A	c.(3163-3165)ccG>ccA	p.P1055P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1055						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTCCTCCCCGCCCACTCCAA	0.647													False	0	True	20:57769239	0	A	57769239	G	A	57769239	2	1	48	1	0	0	0	0	0	0	0	1	18267	1074	38	1		1	ZNF831	20	57769239	Silent	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	27020124	57769239	5256281	69	3953											
BMX	660	broad.mit.edu	37	chrX	15554529	15554529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaggccaacaaggtccccGactctgtgtccctgggaaat	10	13	1	0			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:15554529G>A	ENST00000357607.2	+	13	1389	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	BMX_ENST00000348343.6_Missense_Mutation_p.D401N|BMX_ENST00000342014.6_Missense_Mutation_p.D401N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	401					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CAAGGTCCCCGACTCTGTGTC	0.408													False	0	True	X:15554529	0	A	15554529	G	A	15554529	3	1	48	1	0	0	0	0	1	0	0	0	1478	1058	37	1	1247	1	BMX	23	15554529	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08		15554529	139716031	70	3954											
RBM10	8241	broad.mit.edu	37	chrX	47039289	47039289	+	Frame_Shift_Del	DEL	G	G	-													cttcccacagccatcattttGcgcaacctgaacccacacag							TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:47039289delG	ENST00000377604.3	+	10	1654	c.912delG	c.(910-912)ttgfs	p.L304fs	RBM10_ENST00000329236.7_Frame_Shift_Del_p.L227fs|RBM10_ENST00000345781.6_Frame_Shift_Del_p.L227fs|RBM10_ENST00000468791.1_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	304	RRM 2.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCATCATTTTGCGCAACCTGA	0.612													False	1	True	X:47039289	0	-	47039289	G	-	47039289	7	5	48	1	0	1	0	1	0	0	0	0	13190	1310	46	0	946	0	RBM10	23	47039289	Frame_Shift_Del	DEL	G	TCGA-FB-AAQ2-01A-31D-A40W-08	31484760	47039289	108231271	71	3955											
AFF2	2334	broad.mit.edu	37	chrX	148055040	148055040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaattatgctgatgccGccctctccttcactgaatgt	8	12	2	3			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:148055040G>A	ENST00000370460.2	+	16	3786	c.3307G>A	c.(3307-3309)Gcc>Acc	p.A1103T	AFF2_ENST00000342251.3_Missense_Mutation_p.A1070T|AFF2_ENST00000370457.5_Missense_Mutation_p.A1068T|AFF2_ENST00000286437.5_Missense_Mutation_p.A744T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1103					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.A1103T(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGATGCCGCCCTCTCCTT	0.468													False	0	True	X:148055040	0	A	148055040	G	A	148055040	3	1	48	1	0	0	0	0	1	0	0	0	357	1087	38	1	3424	1	AFF2	23	148055040	Missense_Mutation	SNP	G	TCGA-FB-AAQ2-01A-31D-A40W-08	101015751	148055040	7215520	72	3956											
AJAP1	55966	broad.mit.edu	37	chr1	4832475	4832475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatattcacggcctataaCgagaccctgcagtgttctca	8	12	2	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:4832475C>T	ENST00000378191.4	+	4	1434	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	AJAP1_ENST00000378190.3_Silent_p.N351N	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	351	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGGCCTATAACGAGACCCTGC	0.597													False	0	False	1:4832475	0	T	4832475	C	T	4832475	2	4	49	1	0	0	0	0	0	0	0	1	438	535	19	1		1	AJAP1	1	4832475	Silent	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		4832475	244418146	1	3957											
RERE	473	broad.mit.edu	37	chr1	8555136	8555153	+	In_Frame_Del	DEL	TTCAGAGTGGTGTCATCC	TTCAGAGTGGTGTCATCC	-													gacttactgtgttcagtgcaTtcagagtggtgtcatcccga							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	TTCAGAGTGGTGTCATCC	TTCAGAGTGGTGTCATCC	-	-	TTCAGAGTGGTGTCATCC	TTCAGAGTGGTGTCATCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:8555136_8555153delTTCAGAGTGGTGTCATCC	ENST00000337907.3	-	11	1708_1725	c.1074_1091delGGATGACACCACTCTGAA	c.(1072-1092)cgggatgacaccactctgaat>cgt	p.DDTTLN359del	RERE_ENST00000400908.2_In_Frame_Del_p.DDTTLN359del|RERE_ENST00000377464.1_In_Frame_Del_p.DDTTLN91del|RERE_ENST00000400907.2_In_Frame_Del_p.DDTTLN359del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	359	ELM2.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTCAGTGCATTCAGAGTGGTGTCATCCCGAGAGGCTG	0.491													False	1	False	1:8555136	0	-	8555153	TTCAGAGTGGTGTCATCC	-	8555136	7	5	49	1	0	1	0	1	0	0	0	0	13310	1493	52	0	3665	0	RERE	1	8555136	In_Frame_Del	DEL	TTCAGAGTGGTGTCATCC	TCGA-FB-AAQ3-01A-11D-A40W-08	3722661	8555136	240695485	2	3958											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	49	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-FB-AAQ3-01A-11D-A40W-08	14432249	22987385	226263236	3	3959											
NIPAL3	57185	broad.mit.edu	37	chr1	24782657	24782657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtgacagtcaaggccGtggctgggatgcttgtcttg	16	8	2	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:24782657G>A	ENST00000003912.3	+	9	1136	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	NIPAL3_ENST00000339255.2_Missense_Mutation_p.V223M|NIPAL3_ENST00000374399.4_Missense_Mutation_p.V223M			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	223						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						AGTCAAGGCCGTGGCTGGGAT	0.557													False	0	False	1:24782657	0	A	24782657	G	A	24782657	3	1	49	1	0	0	0	0	1	0	0	0	10494	1145	40	1	693	1	NIPAL3	1	24782657	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	1795272	24782657	224467964	4	3960											
MACF1	23499	broad.mit.edu	37	chr1	39784230	39784230	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgcccagcaggaaatgatGaagccaggccaggcagagga	14	10	0	3			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:39784230G>A	ENST00000564288.1	+	30	4665	c.3888G>A	c.(3886-3888)atG>atA	p.M1296I	MACF1_ENST00000545844.1_Missense_Mutation_p.M1301I|MACF1_ENST00000567887.1_Missense_Mutation_p.M1333I|MACF1_ENST00000361689.2_Missense_Mutation_p.M1301I|MACF1_ENST00000539005.1_Missense_Mutation_p.M1301I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.M1301I|MACF1_ENST00000317713.7_Missense_Mutation_p.M1301I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1301				TA -> LP (in Ref. 4; AAL39000).	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGAAATGATGAAGCCAGGCC	0.512													False	0	False	1:39784230	0	A	39784230	G	A	39784230	3	1	49	1	0	0	0	0	1	0	0	0	9207	1290	45	2	4017	2	MACF1	1	39784230	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	15001573	39784230	209466391	5	3961											
GLMN	11146	broad.mit.edu	37	chr1	92737044	92737044	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taagaccattggaagctgatCaatatggatgccctgtacaa	9	8	1	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:92737044C>G	ENST00000370360.3	-	8	982	c.901G>C	c.(901-903)Gat>Cat	p.D301H	GLMN_ENST00000534881.1_Missense_Mutation_p.D301H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	301					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GGAAGCTGATCAATATGGATG	0.318									Multiple Glomus Tumors (of the Skin), Familial				False	0	False	1:92737044	0	G	92737044	C	G	92737044	3	3	49	1	0	0	0	0	1	0	0	0	6493	826	29	5	931	5	GLMN	1	92737044	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	52952814	92737044	156513577	6	3962											
FLG	2312	broad.mit.edu	37	chr1	152284369	152284369	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	attgtctggagctgtctgcaGagtgcccgtgaccggctctg	14	11	3	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:152284369G>C	ENST00000368799.1	-	3	3028	c.2993C>G	c.(2992-2994)tCt>tGt	p.S998C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	998	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S998Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTCTGCAGAGTGCCCGTG	0.562									Ichthyosis				False	0	False	1:152284369	0	C	152284369	G	C	152284369	3	2	49	1	0	0	0	0	1	0	0	0	5962	942	33	5	9196	5	FLG	1	152284369	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	59547325	152284369	96966252	7	3963											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	49	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-FB-AAQ3-01A-11D-A40W-08	387146	152671515	96579106	8	3964											
ELK4	2005	broad.mit.edu	37	chr1	205589059	205589059	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaagggcaaataaatgaaAgcaatggtgacaccataaag	9	5	0	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:205589059A>C	ENST00000289703.4	-	3	1454	c.1115T>G	c.(1114-1116)cTt>cGt	p.L372R	ELK4_ENST00000357992.4_Intron	NM_021795.2	NP_068567.1			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AATAAATGAAAGCAATGGTGA	0.408			T	SLC45A3	prostate								False	0	True	1:205589059	0	C	205589059	A	C	205589059	3	2	49	1	0	0	0	0	1	0	0	0	5093	72	3	4	330	4	ELK4	1	205589059	Missense_Mutation	SNP	A	TCGA-FB-AAQ3-01A-11D-A40W-08	52917544	205589059	43661562	9	3965											
GALNT2	2590	broad.mit.edu	37	chr1	230338964	230338964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcaggacccttacgcccGcaacaagttcaaccaggtgg	12	14	1	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:230338964G>A	ENST00000366672.4	+	3	374	c.302G>A	c.(301-303)cGc>cAc	p.R101H	GALNT2_ENST00000541865.1_Missense_Mutation_p.R11H|GALNT2_ENST00000543760.1_Missense_Mutation_p.R63H	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	101					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CCTTACGCCCGCAACAAGTTC	0.547													False	0	True	1:230338964	0	A	230338964	G	A	230338964	3	1	49	1	0	0	0	0	1	0	0	0	6256	1087	38	1	312	1	GALNT2	1	230338964	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	24749905	230338964	18911657	10	3966											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	49	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-FB-AAQ3-01A-11D-A40W-08		97847365	145352008	11	3967											
FIGN	55137	broad.mit.edu	37	chr2	164467285	164467285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgtttgaaatgctgttgtCgggcattctgtacataggac	12	6	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:164467285C>T	ENST00000333129.3	-	3	1371	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	353						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATGCTGTTGTCGGGCATTCTG	0.448													False	0	True	2:164467285	0	T	164467285	C	T	164467285	3	4	49	1	0	0	0	0	1	0	0	0	5931	884	31	1	1226	1	FIGN	2	164467285	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	66619920	164467285	78732088	12	3968											
PLEKHM3	389072	broad.mit.edu	37	chr2	208842157	208842157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgaaagctggtacgtgGcataaaggttttgattccca	12	6	0	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:208842157G>A	ENST00000457206.1	-	3	1191	c.764C>T	c.(763-765)gCc>gTc	p.A255V	PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A255V|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A255V			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	255	PH 1.				intracellular signal transduction		metal ion binding	p.A255V(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGTACGTGGCATAAAGGTT	0.448													False	0	False	2:208842157	0	A	208842157	G	A	208842157	3	1	49	1	0	0	0	0	1	0	0	0	12151	1203	42	2	1545	2	PLEKHM3	2	208842157	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	44374872	208842157	34357216	13	3969											
MREG	55686	broad.mit.edu	37	chr2	216861118	216861118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgggacacatcatgggGcatactccataaattcttct	9	9	3	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:216861118G>A	ENST00000263268.6	-	2	461	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	56						apical plasma membrane				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		ACATCATGGGGCATACTCCAT	0.438													False	0	True	2:216861118	0	A	216861118	G	A	216861118	3	1	49	1	0	0	0	0	1	0	0	0	9827	1203	42	2	494	2	MREG	2	216861118	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	8018961	216861118	26338255	14	3970											
ANKRD28	23243	broad.mit.edu	37	chr3	15762489	15762489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctccatgtgttgatgcaGcagcaaagtgcaaaggagta	12	7	0	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:15762489G>A	ENST00000399451.2	-	8	1206	c.839C>T	c.(838-840)gCt>gTt	p.A280V	ANKRD28_ENST00000383777.1_Missense_Mutation_p.A313V|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	280						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TGTTGATGCAGCAGCAAAGTG	0.373													False	0	True	3:15762489	0	A	15762489	G	A	15762489	3	1	49	1	0	0	0	0	1	0	0	0	656	971	34	2	2406	2	ANKRD28	3	15762489	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08		15762489	182259941	15	3971											
SETD2	29072	broad.mit.edu	37	chr3	47098937	47098937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtagaaagtttattgcGgtctttaattcgtactttct	7	7	3	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:47098937G>A	ENST00000409792.3	-	15	6379	c.6337C>T	c.(6337-6339)Cgc>Tgc	p.R2113C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTATTGCGGTCTTTAATT	0.403			"N, F, S, Mis"		clear cell renal carcinoma								False	0	False	3:47098937	0	A	47098937	G	A	47098937	3	1	49	1	0	0	0	0	1	0	0	0	14212	1116	39	1	1385	1	SETD2	3	47098937	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	31336448	47098937	150923493	16	3972											
KALRN	8997	broad.mit.edu	37	chr3	124385955	124385955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggttgttctgcaagccGccaacgctgacatccagcag	12	12	1	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:124385955G>A	ENST00000291478.5	+	14	1697	c.1534G>A	c.(1534-1536)Gcc>Acc	p.A512T	KALRN_ENST00000459915.1_Missense_Mutation_p.A301T|KALRN_ENST00000428018.2_Missense_Mutation_p.A480T|KALRN_ENST00000393496.1_Missense_Mutation_p.A550T|KALRN_ENST00000360013.3_Missense_Mutation_p.A2209T	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGCAAGCCGCCAACGCTGA	0.507													False	0	False	3:124385955	0	A	124385955	G	A	124385955	3	1	49	1	0	0	0	0	1	0	0	0	8025	1087	38	1	6967	1	KALRN	3	124385955	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	77287018	124385955	73636475	17	3973											
MCM2	4171	broad.mit.edu	37	chr3	127327253	127327253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagaactaccagcgtatccGaatccaggagagtccaggca	10	12	1	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:127327253G>A	ENST00000265056.7	+	7	1374	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	377					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CAGCGTATCCGAATCCAGGAG	0.577													False	0	False	3:127327253	0	A	127327253	G	A	127327253	3	1	49	1	0	0	0	0	1	0	0	0	9453	1058	37	1	1156	1	MCM2	3	127327253	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	2941298	127327253	70695177	18	3974											
APBB2	323	broad.mit.edu	37	chr4	40895355	40895355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgatgcagttgttgaccGcaacactacttttaccgggg	11	11	0	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:40895355G>A	ENST00000295974.8	-	11	1954	c.1325C>T	c.(1324-1326)gCg>gTg	p.A442V	APBB2_ENST00000508593.1_Missense_Mutation_p.A443V|APBB2_ENST00000513140.1_Missense_Mutation_p.A421V|APBB2_ENST00000506352.1_Missense_Mutation_p.A421V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	442	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.A421V(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTTGTTGACCGCAACACTACT	0.502													False	0	False	4:40895355	0	A	40895355	G	A	40895355	3	1	49	1	0	0	0	0	1	0	0	0	763	1087	38	1	983	1	APBB2	4	40895355	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08		40895355	150258921	19	3975											
DCUN1D4	23142	broad.mit.edu	37	chr4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaggaaaaatctggccccTttttccagtttttcaccaat	5	10	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383													False	0	True	4:52777312	0	C	52777312	T	C	52777312	3	2	49	1	0	0	0	0	1	0	0	0	4341	1609	56	4	726	4	DCUN1D4	4	52777312	Missense_Mutation	SNP	T	TCGA-FB-AAQ3-01A-11D-A40W-08	11881957	52777312	138376964	20	3976											
INPP4B	8821	broad.mit.edu	37	chr4	143033802	143033802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagtgactcaaacattctGgctggaagcttgacctctac	10	10	3	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:143033802G>A	ENST00000513000.1	-	23	2602	c.2169C>T	c.(2167-2169)gcC>gcT	p.A723A	INPP4B_ENST00000508116.1_Silent_p.A723A|INPP4B_ENST00000262992.4_Silent_p.A723A|INPP4B_ENST00000308502.4_Silent_p.A723A|INPP4B_ENST00000509777.1_Silent_p.A723A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	723					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAAACATTCTGGCTGGAAGCT	0.368													False	0	True	4:143033802	0	A	143033802	G	A	143033802	2	1	49	1	0	0	0	0	0	0	0	1	7803	1335	47	2		2	INPP4B	4	143033802	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	90256490	143033802	48120474	21	3977											
SNCAIP	9627	broad.mit.edu	37	chr5	121786604	121786604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccaacaactctgaggacCccaagactaccccagtgagg	8	15	1	3			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:121786604C>T	ENST00000261367.7	+	12	3631	c.2203C>T	c.(2203-2205)Ccc>Tcc	p.P735S	CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P322S|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P246S|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P628S|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P290S|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P688S|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P735S|CTC-210G5.1_ENST00000506053.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	688					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTCTGAGGACCCCAAGACTAC	0.547													False	0	True	5:121786604	0	T	121786604	C	T	121786604	3	4	49	1	0	0	0	0	1	0	0	0	14921	623	22	2	2096	2	SNCAIP	5	121786604	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		121786604	59128656	22	3978											
FAM13B	0	broad.mit.edu	37	chr5	137288332	137288332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatacctttaatttgcttccGcagttttgtaagctctgtca	6	9	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:137288332G>A	ENST00000033079.3	-	16	2300	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	FAM13B_ENST00000425075.2_Missense_Mutation_p.R521W|FAM13B_ENST00000420893.2_Missense_Mutation_p.R617W	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	617					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						ATTTGCTTCCGCAGTTTTGTA	0.313													False	0	False	5:137288332	0	A	137288332	G	A	137288332	3	1	49	1	0	0	0	0	1	0	0	0	5489	1086	38	1	930	1	FAM13B	5	137288332	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	15501728	137288332	43626928	23	3979											
PCDHA8	0	broad.mit.edu	37	chr5	140223264	140223264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggatcagttgatgtaggCgaagagcaagatttaaatgt	13	4	1	3			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:140223264C>T	ENST00000531613.1	+	1	2358	c.2358C>T	c.(2356-2358)ggC>ggT	p.G786G	PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.G786G|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATGTAGGCGAAGAGCAAG	0.448													False	0	False	5:140223264	0	T	140223264	C	T	140223264	2	4	49	1	0	0	0	0	0	0	0	1	11598	755	27	1		1	PCDHA8	5	140223264	Silent	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	2934932	140223264	40691996	24	3980											
PCDHGB7	0	broad.mit.edu	37	chr5	140798660	140798660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taacagatgaggccctggatCgggagcagaccccagagtac	13	11	0	4			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:140798660C>T	ENST00000398594.2	+	1	1234	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCTGGATCGGGAGCAGAC	0.473													False	0	True	5:140798660	0	T	140798660	C	T	140798660	3	4	49	1	0	0	0	0	1	0	0	0	11636	875	31	1	1236	1	PCDHGB7	5	140798660	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	575396	140798660	40116600	25	3981											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124629	26124629	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtacctggcggcggtgttaGagtacctgaccgccgagatc	14	11	0	3			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:26124629G>A	ENST00000602637.1	+	1	199	c.169G>A	c.(169-171)Gag>Aag	p.E57K	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E57K			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	57					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GGCGGTGTTAGAGTACCTGAC	0.662													False	0	False	6:26124629	0	A	26124629	G	A	26124629	3	1	49	1	0	0	0	0	1	0	0	0	7177	943	33	2	171	2	HIST1H2AC	6	26124629	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08		26124629	144990438	26	3982											
PHIP	55023	broad.mit.edu	37	chr6	79668316	79668316	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacattagggaagaaacccGccttaaaaaaacaaaatata	5	9	0	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:79668316G>A	ENST00000275034.4	-	32	3825	c.3658C>T	c.(3658-3660)Cgg>Tgg	p.R1220W	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1220	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GAAGAAACCCGCCTTAAAAAA	0.328													False	0	True	6:79668316	0	A	79668316	G	A	79668316	5	1	49	1	0	0	0	0	0	0	1	0	11911	1101	38	1	1843	1	PHIP	6	79668316	Splice_Site	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	53543687	79668316	91446751	27	3983											
PRDM13	59336	broad.mit.edu	37	chr6	100061933	100061933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgctctacggctcaccGgccaccaccgcttattaccc	8	18	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:100061933G>A	ENST00000369215.4	+	4	1727	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACGGCTCACCGGCCACCACCG	0.632													False	0	False	6:100061933	0	A	100061933	G	A	100061933	2	1	49	1	0	0	0	0	0	0	0	1	12530	1103	39	1		1	PRDM13	6	100061933	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	20393617	100061933	71053134	28	3984											
MAN1A1	4121	broad.mit.edu	37	chr6	119509656	119509656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctccataacttctggccGtaagatgtagtatttttcat	7	8	3	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:119509656G>A	ENST00000368468.3	-	11	2074	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	545					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.R545W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACTTCTGGCCGTAAGATGTAG	0.413													False	0	False	6:119509656	0	A	119509656	G	A	119509656	3	1	49	1	0	0	0	0	1	0	0	0	9277	1144	40	1	340	1	MAN1A1	6	119509656	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	19447723	119509656	51605411	29	3985											
LATS1	9113	broad.mit.edu	37	chr6	149983251	149983251	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatggatgagcttttatttCatcagcaccattcttgccta	6	9	3	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:149983251C>A	ENST00000543571.1	-	8	3554	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.E1003*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	1003	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTTTTATTTCATCAGCACCA	0.408													False	0	True	6:149983251	0	A	149983251	C	A	149983251	4	1	49	1	0	0	0	0	0	1	0	0	8697	835	29	3	389	3	LATS1	6	149983251	Nonsense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	30473595	149983251	21131816	30	3986											
EEPD1	80820	broad.mit.edu	37	chr7	36194002	36194002	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacctgtcccatagccgcaaGttcagcgcagcctgtaactt	9	14	1	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:36194002G>C	ENST00000242108.4	+	2	787	c.69G>C	c.(67-69)aaG>aaC	p.K23N	EEPD1_ENST00000534978.1_Missense_Mutation_p.K23N	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	23					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ATAGCCGCAAGTTCAGCGCAG	0.632													False	0	False	7:36194002	0	C	36194002	G	C	36194002	3	2	49	1	0	0	0	0	1	0	0	0	4962	1020	36	5	71	5	EEPD1	7	36194002	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08		36194002	122944661	31	3987											
BMP1	649	broad.mit.edu	37	chr8	22037986	22037986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggcgcatctctgtcacacCcggggagaaggtacgtgtgg	16	10	2	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:22037986C>A	ENST00000306385.5	+	8	1737	c.1067C>A	c.(1066-1068)cCc>cAc	p.P356H	BMP1_ENST00000397814.3_Missense_Mutation_p.P356H|BMP1_ENST00000306349.8_Missense_Mutation_p.P356H|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.P356H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	356	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCTGTCACACCCGGGGAGAAG	0.612													False	0	True	8:22037986	0	A	22037986	C	A	22037986	3	1	49	1	0	0	0	0	1	0	0	0	1461	623	22	3	1097	3	BMP1	8	22037986	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		22037986	124326036	32	3988											
CHMP7	91782	broad.mit.edu	37	chr8	23114047	23114047	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgttggggtgtaccagctGatgcagagtgaacagcttct	14	7	1	3			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:23114047G>A	ENST00000397677.1	+	5	1380	c.732G>A	c.(730-732)ctG>ctA	p.L244L	CHMP7_ENST00000313219.7_Silent_p.L244L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	244					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGTACCAGCTGATGCAGAGTG	0.517													False	0	False	8:23114047	0	A	23114047	G	A	23114047	2	1	49	1	0	0	0	0	0	0	0	1	3384	1277	45	2		2	CHMP7	8	23114047	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	1076061	23114047	123249975	33	3989											
PI15	51050	broad.mit.edu	37	chr8	75761394	75761394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accatataaagtaggggtacCatgttcatcttgtcctccaa	7	10	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:75761394C>A	ENST00000260113.2	+	6	862	c.683C>A	c.(682-684)cCa>cAa	p.P228Q	PI15_ENST00000523773.1_Missense_Mutation_p.P228Q|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	228						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTAGGGGTACCATGTTCATCT	0.393													False	0	False	8:75761394	0	A	75761394	C	A	75761394	3	1	49	1	0	0	0	0	1	0	0	0	11937	594	21	3	701	3	PI15	8	75761394	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	52647347	75761394	70602628	34	3990											
DERL1	79139	broad.mit.edu	37	chr8	124027758	124027758	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccattctgatcagcagctcGcctcatgctagcagggggca	12	13	3	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:124027758G>A	ENST00000259512.4	-	8	985	c.685C>T	c.(685-687)Cga>Tga	p.R229*	DERL1_ENST00000523036.1_Nonsense_Mutation_p.R129*|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000405944.3_Nonsense_Mutation_p.R209*|DERL1_ENST00000519018.1_Nonsense_Mutation_p.R129*|DERL1_ENST00000419562.2_Nonsense_Mutation_p.R129*	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	229					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCAGCAGCTCGCCTCATGCTA	0.627													False	0	False	8:124027758	0	A	124027758	G	A	124027758	4	1	49	1	0	0	0	0	0	1	0	0	4476	1095	38	1	74	1	DERL1	8	124027758	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	48266364	124027758	22336264	35	3991											
OR1L1	26737	broad.mit.edu	37	chr9	125424096	125424096	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgctgtgttcctccccatCtaccttatcacagtgatagg	7	12	2	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:125424096C>A	ENST00000373686.1	+	1	252	c.252C>A	c.(250-252)atC>atA	p.I84I	OR1L1_ENST00000309623.1_Silent_p.I34I			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCCTCCCCATCTACCTTATCA	0.493													False	0	False	9:125424096	0	A	125424096	C	A	125424096	2	1	49	1	0	0	0	0	0	0	0	1	11031	903	32	3		3	OR1L1	9	125424096	Silent	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		125424096	15789335	36	3992											
PPRC1	23082	broad.mit.edu	37	chr10	103900075	103900075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccctgttctagctggcCctgtacctgttgaccctggg	12	13	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:103900075C>T	ENST00000278070.2	+	5	1849	c.1810C>T	c.(1810-1812)Cct>Tct	p.P604S	PPRC1_ENST00000413464.2_Missense_Mutation_p.P604S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	604					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCTAGCTGGCCCTGTACCTGT	0.577													False	0	True	10:103900075	0	T	103900075	C	T	103900075	3	4	49	1	0	0	0	0	1	0	0	0	12484	623	22	2	1828	2	PPRC1	10	103900075	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		103900075	31634672	37	3993											
DOCK1	1793	broad.mit.edu	37	chr10	129216680	129216680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaccatgcagctgacgaacGacaagatcaacagcatggtg	11	10	1	3			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:129216680G>A	ENST00000280333.6	+	45	4613	c.4504G>A	c.(4504-4506)Gac>Aac	p.D1502N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1502	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCTGACGAACGACAAGATCAA	0.587													False	0	True	10:129216680	0	A	129216680	G	A	129216680	3	1	49	1	0	0	0	0	1	0	0	0	4714	1058	37	1	4682	1	DOCK1	10	129216680	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	25316605	129216680	6318067	38	3994											
OR52R1	119695	broad.mit.edu	37	chr11	4824947	4824947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagctctcaaaatcatcaCgtatgacataccaatgacaa	4	12	3	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:4824947C>T	ENST00000380382.1	-	1	900	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	OR52R1_ENST00000356069.2_Missense_Mutation_p.V222M|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAATCATCACGTATGACATA	0.473													False	0	False	11:4824947	0	T	4824947	C	T	4824947	3	4	49	1	0	0	0	0	1	0	0	0	11199	536	19	1	286	1	OR52R1	11	4824947	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		4824947	130181569	39	3995											
OR5P2	120065	broad.mit.edu	37	chr11	7818171	7818171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcagccagaaggacgcattCgactgttgcaaagaaagccg	13	10	0	2	rs147652902		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:7818171C>T	ENST00000329434.2	-	1	349	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E107K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGACGCATTCGACTGTTGCA	0.493													False	0	False	11:7818171	0	T	7818171	C	T	7818171	3	4	49	1	0	0	0	0	1	0	0	0	11246	893	31	1	653	1	OR5P2	11	7818171	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	2993224	7818171	127188345	40	3996											
SLC22A11	55867	broad.mit.edu	37	chr11	64337198	64337198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgatcctgatgagccGccaagccctgcccctgctgc	9	19	0	3			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:64337198G>A	ENST00000301891.4	+	9	1831	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	SLC22A11_ENST00000377581.3_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.R378H	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	486					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CTGATGAGCCGCCAAGCCCTG	0.612													False	0	False	11:64337198	0	A	64337198	G	A	64337198	3	1	49	1	0	0	0	0	1	0	0	0	14523	1087	38	1	1491	1	SLC22A11	11	64337198	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	56519027	64337198	70669318	41	3997											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	49	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		25398284	108453611	42	3998											
WNT10B	7480	broad.mit.edu	37	chr12	49360058	49360058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgttgcaggcccggccCcttgtccctggggagcccat	13	15	1	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:49360058C>T	ENST00000301061.4	-	5	1338	c.990G>A	c.(988-990)agG>agA	p.R330R	WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	330					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						AGGCCCGGCCCCTTGTCCCTG	0.642													False	0	True	12:49360058	0	T	49360058	C	T	49360058	2	4	49	1	0	0	0	0	0	0	0	1	17467	622	22	2		2	WNT10B	12	49360058	Silent	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	23961774	49360058	84491837	43	3999											
KRT2	3849	broad.mit.edu	37	chr12	53045775	53045777	+	In_Frame_Del	DEL	CCG	CCG	-													agccgcctccaccgaagcccCcgccaccaccaccatggcgg					rs11835758	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	CCG	CCG	-	-	CCG	CCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:53045775_53045777delCCG	ENST00000309680.3	-	1	171_173	c.150_152delCGG	c.(148-153)ggcggg>ggg	p.50_51GG>G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	50	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ACCGAAGCCCCCGCCACCACCAC	0.621													False	1	True	12:53045775	0	-	53045777	CCG	-	53045775	7	5	49	1	0	1	0	1	0	0	0	0	8507	623	22	0	1803	0	KRT2	12	53045775	In_Frame_Del	DEL	CCG	TCGA-FB-AAQ3-01A-11D-A40W-08	3685717	53045775	80806120	44	4000											
PPFIA2	8499	broad.mit.edu	37	chr12	81769706	81769706	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aattctttcttccatatcttCcttttgtgccatggcctaca	4	12	3	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:81769706C>G	ENST00000550584.2	-	9	1295	c.1000G>C	c.(1000-1002)Gaa>Caa	p.E334Q	PPFIA2_ENST00000407050.4_Missense_Mutation_p.E260Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E181Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E316Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E235Q|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E316Q	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	260										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCATATCTTCCTTTTGTGCC	0.308													False	0	False	12:81769706	0	G	81769706	C	G	81769706	3	3	49	1	0	0	0	0	1	0	0	0	12379	864	30	5	2865	5	PPFIA2	12	81769706	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	28723931	81769706	52082189	45	4001											
PLXNC1	10154	broad.mit.edu	37	chr12	94658986	94658986	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctgttgtggcaggttccGgaattcagtactgtggtatg	15	6	1	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:94658986G>T	ENST00000258526.4	+	21	3831	c.3582G>T	c.(3580-3582)ccG>ccT	p.P1194P	PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Silent_p.P241P	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1194					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGCAGGTTCCGGAATTCAGTA	0.453													False	0	False	12:94658986	0	T	94658986	G	T	94658986	2	4	49	1	0	0	0	0	0	0	0	1	12195	1103	39	3		3	PLXNC1	12	94658986	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	12889280	94658986	39192909	46	4002											
MED13L	23389	broad.mit.edu	37	chr12	116413394	116413394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgcaggaagccaaaagCcagcgctggtcgtgagacag	14	10	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:116413394C>A	ENST00000281928.3	-	24	5720	c.5514G>T	c.(5512-5514)tgG>tgT	p.W1838C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1838					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGCCAAAAGCCAGCGCTGGT	0.483													False	0	False	12:116413394	0	A	116413394	C	A	116413394	3	1	49	1	0	0	0	0	1	0	0	0	9498	740	26	3	1150	3	MED13L	12	116413394	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	21754408	116413394	17438501	47	4003											
FZD10	11211	broad.mit.edu	37	chr12	130648664	130648664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcagcatggacgtcaacGcgctcaccggcttcgtgctc	13	14	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:130648664G>A	ENST00000539839.1	+	1	1661	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	FZD10_ENST00000229030.4_Missense_Mutation_p.A393T	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A393S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGACGTCAACGCGCTCACCGG	0.657													False	0	False	12:130648664	0	A	130648664	G	A	130648664	3	1	49	1	0	0	0	0	1	0	0	0	6171	1087	38	1	1179	1	FZD10	12	130648664	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	14235270	130648664	3203231	48	4004											
CIDEB	27141	broad.mit.edu	37	chr14	24779887	24779887	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatgtcggtctgctaccGtcccccagggaacgagacac	12	13	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:24779887G>A	ENST00000336557.5	-	0	714				CIDEB_ENST00000258807.5_De_novo_Start_OutOfFrame|LTB4R2_ENST00000528054.1_Missense_Mutation_p.R37H|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R6H|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R6H			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b						apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		GTCTGCTACCGTCCCCCAGGG	0.662													False	0	False	14:24779887	0	A	24779887	G	A	24779887	1	1	49	1	0	0	0	0	0	0	0	0	3449	1145	40	1		1	CIDEB	14	24779887	Translation_Start_Site	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08		24779887	82569653	49	4005											
EML1	2009	broad.mit.edu	37	chr14	100380996	100380996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatgccactctctgggacGctgtgggtcaccgtcccgtc	12	15	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:100380996G>A	ENST00000262233.6	+	15	1853	c.1714G>A	c.(1714-1716)Gct>Act	p.A572T	EML1_ENST00000327921.9_Missense_Mutation_p.A560T|EML1_ENST00000334192.4_Missense_Mutation_p.A591T	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	572						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCTCTGGGACGCTGTGGGTCA	0.453													False	0	False	14:100380996	0	A	100380996	G	A	100380996	3	1	49	1	0	0	0	0	1	0	0	0	5128	1087	38	1	1833	1	EML1	14	100380996	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	75601109	100380996	6968544	50	4006											
MKRN3	7681	broad.mit.edu	37	chr15	23811290	23811290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtcgctattcgcacgacCtttctggtcggaagatggcc	11	12	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr15:23811290C>A	ENST00000314520.3	+	1	837	c.361C>A	c.(361-363)Ctt>Att	p.L121I	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	121						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTCGCACGACCTTTCTGGTCG	0.602													False	0	True	15:23811290	0	A	23811290	C	A	23811290	3	1	49	1	0	0	0	0	1	0	0	0	9675	681	24	3	363	3	MKRN3	15	23811290	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		23811290	78720102	51	4007											
APBA2	321	broad.mit.edu	37	chr15	29347038	29347038	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagtggccccacgagcaGgtaggaccctggctgtcctg	14	13	0	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr15:29347038G>T	ENST00000558402.1	+	5	1550	c.951G>T	c.(949-951)caG>caT	p.Q317H	APBA2_ENST00000411764.1_Splice_Site_p.Q317H|APBA2_ENST00000558330.1_Splice_Site_p.Q317H|APBA2_ENST00000558259.1_Splice_Site_p.Q317H|APBA2_ENST00000561069.1_Splice_Site_p.Q317H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	317					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCCACGAGCAGGTAGGACCCT	0.657													False	0	False	15:29347038	0	T	29347038	G	T	29347038	5	4	49	1	0	0	0	0	0	0	1	0	759	1014	35	3	953	3	APBA2	15	29347038	Splice_Site	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	5535748	29347038	73184354	52	4008											
ZNF500	26048	broad.mit.edu	37	chr16	4815918	4815918	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttcacaatcaggatcTcttcctgttccaggtcctgc	6	16	3	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:4815918T>A	ENST00000219478.6	-	2	361	c.62A>T	c.(61-63)gAg>gTg	p.E21V	ZNF500_ENST00000545009.1_Missense_Mutation_p.E21V			O60304	ZN500_HUMAN	zinc finger protein 500	21					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						AATCAGGATCTCTTCCTGTTC	0.602													False	0	False	16:4815918	0	A	4815918	T	A	4815918	3	1	49	1	0	0	0	0	1	0	0	0	18031	1551	54	5	1400	5	ZNF500	16	4815918	Missense_Mutation	SNP	T	TCGA-FB-AAQ3-01A-11D-A40W-08		4815918	85538835	53	4009											
PDXDC1	23042	broad.mit.edu	37	chr16	15116567	15116567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcatttgcagagtcaaCggttgcaggaaagtttgaag	12	5	2	2	rs151168975	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:15116567C>T	ENST00000396410.4	+	13	1193	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384W|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275W|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339W|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338W|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366W|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351W|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343W	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	366					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	p.R366W(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCAGAGTCAACGGTTGCAGGA	0.368													False	0	False	16:15116567	0	T	15116567	C	T	15116567	3	4	49	1	0	0	0	0	1	0	0	0	11764	527	19	1	1146	1	PDXDC1	16	15116567	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	10300649	15116567	75238186	54	4010											
ERN2	10595	broad.mit.edu	37	chr16	23702206	23702206	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctctgagtctggcgggtaGtagggcaggaagaggctctc	17	9	3	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:23702206G>C	ENST00000256797.4	-	22	3039	c.2871C>G	c.(2869-2871)taC>taG	p.Y957*	ERN2_ENST00000457008.2_Nonsense_Mutation_p.Y857*	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	909					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGGCGGGTAGTAGGGCAGGA	0.632													False	0	False	16:23702206	0	C	23702206	G	C	23702206	4	2	49	1	0	0	0	0	0	1	0	0	5270	1024	36	5	57	5	ERN2	16	23702206	Nonsense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	8585639	23702206	66652547	55	4011											
SYNRG	11276	broad.mit.edu	37	chr17	35960421	35960421	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcacataccttgagggggtCttatcccacctgcaacagga	9	13	2	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:35960421C>G	ENST00000339208.6	-	2	247	c.107G>C	c.(106-108)aGa>aCa	p.R36T	SYNRG_ENST00000345615.4_Missense_Mutation_p.R36T|SYNRG_ENST00000591288.1_Missense_Mutation_p.R36T|SYNRG_ENST00000394378.2_Missense_Mutation_p.R36T|SYNRG_ENST00000585472.1_Missense_Mutation_p.R36T|SYNRG_ENST00000502449.2_Missense_Mutation_p.R36T|SYNRG_ENST00000346661.4_Missense_Mutation_p.R36T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	36					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGAGGGGGTCTTATCCCACC	0.308													False	0	False	17:35960421	0	G	35960421	C	G	35960421	3	3	49	1	0	0	0	0	1	0	0	0	15542	913	32	5	3994	5	SYNRG	17	35960421	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		35960421	45234789	56	4012											
SMAD4	4089	broad.mit.edu	37	chr18	48603039	48603066	+	Frame_Shift_Del	DEL	TGCAGCAGCAGGCGGCTACTGCACAAGC	TGCAGCAGCAGGCGGCTACTGCACAAGC	-													gcgtcagtgtcatcgacagaTgcagcagcaggcggctactg							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	TGCAGCAGCAGGCGGCTACTGCACAAGC	TGCAGCAGCAGGCGGCTACTGCACAAGC	-	-	TGCAGCAGCAGGCGGCTACTGCACAAGC	TGCAGCAGCAGGCGGCTACTGCACAAGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr18:48603039_48603066delTGCAGCAGCAGGCGGCTACTGCACAAGC	ENST00000588745.1	+	7	1052_1079	c.1052_1079delTGCAGCAGCAGGCGGCTACTGCACAAGC	c.(1051-1080)atgcagcagcaggcggctactgcacaagctfs	p.MQQQAATAQA351fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.MQQQAATAQA447fs|SMAD4_ENST00000342988.3_Frame_Shift_Del_p.MQQQAATAQA447fs			Q13485	SMAD4_HUMAN	SMAD family member 4	447	MH2.		D -> N (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.Q450fs*17(1)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCT	0.452													False	1	False	18:48603039	0	-	48603066	TGCAGCAGCAGGCGGCTACTGCACAAGC	-	48603039	7	5	49	1	0	1	0	1	0	0	0	0	14840	1464	51	0	1378	0	SMAD4	18	48603039	Frame_Shift_Del	DEL	TGCAGCAGCAGGCGGCTACTGCACAAGC	TCGA-FB-AAQ3-01A-11D-A40W-08		48603039	29474209	57	4013											
EEF2	1938	broad.mit.edu	37	chr19	3976682	3976682	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccgggcaggatctgccagTggtcaaacacacactggggg	14	12	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:3976682T>A	ENST00000309311.6	-	15	2535	c.2447A>T	c.(2446-2448)cAc>cTc	p.H816L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	816						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GATCTGCCAGTGGTCAAACAC	0.657													False	0	False	19:3976682	0	A	3976682	T	A	3976682	3	1	49	1	0	0	0	0	1	0	0	0	4959	1696	59	5	133	5	EEF2	19	3976682	Missense_Mutation	SNP	T	TCGA-FB-AAQ3-01A-11D-A40W-08		3976682	55152301	58	4014											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	49	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-FB-AAQ3-01A-11D-A40W-08	10106985	14083667	45045316	59	4015											
NWD1	284434	broad.mit.edu	37	chr19	16884049	16884049	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagctggttccagttgtgCgcacaccctgtgctggtgcc	13	13	0	1	rs144961672	by1000genomes	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:16884049C>T	ENST00000524140.2	+	11	2941	c.2523C>T	c.(2521-2523)tgC>tgT	p.C841C	NWD1_ENST00000549814.1_Silent_p.C841C|NWD1_ENST00000523826.1_Silent_p.C635C|NWD1_ENST00000339803.6_Silent_p.C706C|NWD1_ENST00000379808.3_Silent_p.C841C|NWD1_ENST00000552788.1_Silent_p.C841C	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	841							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCAGTTGTGCGCACACCCTG	0.622													False	0	False	19:16884049	0	T	16884049	C	T	16884049	2	4	49	1	0	0	0	0	0	0	0	1	10849	776	27	1		1	NWD1	19	16884049	Silent	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	2800382	16884049	42244934	60	4016											
PDE4C	5143	broad.mit.edu	37	chr19	18331319	18331319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgccagcttctgccccGtgtcctctgggagccgaggc	12	16	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:18331319G>A	ENST00000355502.3	-	10	1473	c.602C>T	c.(601-603)aCg>aTg	p.T201M	PDE4C_ENST00000539010.1_De_novo_Start_InFrame|PDE4C_ENST00000262805.12_Missense_Mutation_p.T169M|PDE4C_ENST00000594465.3_Missense_Mutation_p.T201M|PDE4C_ENST00000447275.3_Missense_Mutation_p.T95M|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594617.3_Missense_Mutation_p.T201M|PDE4C_ENST00000597297.1_Intron			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	201					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CTTCTGCCCCGTGTCCTCTGG	0.657													False	0	True	19:18331319	0	A	18331319	G	A	18331319	3	1	49	1	0	0	0	0	1	0	0	0	11709	1145	40	1	1576	1	PDE4C	19	18331319	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	1447270	18331319	40797664	61	4017											
CILP2	148113	broad.mit.edu	37	chr19	19656676	19656676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccagtgccgggagccaCcggccggacgacccagcctc	12	19	0	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:19656676C>T	ENST00000586018.1	+	8	3442	c.3340C>T	c.(3340-3342)Ccg>Tcg	p.P1114S	CILP2_ENST00000291495.5_Missense_Mutation_p.P1108S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1108						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGGGAGCCACCGGCCGGACG	0.657													False	0	True	19:19656676	0	T	19656676	C	T	19656676	3	4	49	1	0	0	0	0	1	0	0	0	3453	507	18	2	3352	2	CILP2	19	19656676	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	1325357	19656676	39472307	62	4018											
PEG3	5178	broad.mit.edu	37	chr19	57335649	57335649	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttctggttggtacatctcCttgtaattctccagcagagt	8	11	3	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:57335649C>A	ENST00000598410.1	-	0	378				ZIM2_ENST00000601070.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000593931.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000221722.5_De_novo_Start_OutOfFrame|PEG3_ENST00000423103.2_Missense_Mutation_p.K125N|ZIM2_ENST00000599935.1_De_novo_Start_OutOfFrame|PEG3_ENST00000326441.9_Missense_Mutation_p.K125N|PEG3_ENST00000593695.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000593711.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000391708.3_De_novo_Start_OutOfFrame	NM_001146185.1|NM_001146187.1	NP_001139657.1|NP_001139659.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3						apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTACATCTCCTTGTAATTCT	0.547													False	0	False	19:57335649	0	A	57335649	C	A	57335649	1	1	49	1	0	0	0	0	0	0	0	0	11788	680	24	3		3	PEG3	19	57335649	Translation_Start_Site	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	37678973	57335649	1793334	63	4019											
AVP	551	broad.mit.edu	37	chr20	3065264	3065264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagttctggaagtagcaCgcggaggagaaggccagtag	18	7	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:3065264C>T	ENST00000380293.3	-	1	106	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	19			A -> T (in ADNDI; probably causes insufficient processing of precursor).|A -> V (in ADNDI).		cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		GGAAGTAGCACGCGGAGGAGA	0.637													False	0	False	20:3065264	0	T	3065264	C	T	3065264	2	4	49	1	0	0	0	0	0	0	0	1	1233	523	19	1		1	AVP	20	3065264	Silent	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08		3065264	59960256	64	4020											
ITPA	3704	broad.mit.edu	37	chr20	3193873	3193873	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcacagaaaattgaccGtatgtctctgttttgtttta	10	6	1	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:3193873G>A	ENST00000380113.3	+	2	316		c.e2+1		ITPA_ENST00000483354.1_Splice_Site|ITPA_ENST00000399838.3_Intron|ITPA_ENST00000455664.2_Splice_Site	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1	Q9BY32	ITPA_HUMAN	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)						nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AAAATTGACCGTATGTCTCTG	0.403													False	0	False	20:3193873	0	A	3193873	G	A	3193873	5	1	49	1	0	0	0	0	0	0	1	0	7965	1159	40	1	131	1	ITPA	20	3193873	Splice_Site	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	128609	3193873	59831647	65	4021											
RBM12	10137	broad.mit.edu	37	chr20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaggtattcctgcactggGcattcccgcaccaggcagtc	10	14	0	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557													False	0	True	20:34241168	0	A	34241168	G	A	34241168	3	1	49	1	0	0	0	0	1	0	0	0	13192	1203	42	2	725	2	RBM12	20	34241168	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	31047295	34241168	28784352	66	4022											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46011916	46011917	+	In_Frame_Ins	INS	-	-	CTA													cacagcaggcctgctggcagINSggggaggaggtgcagcaagc							TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr21:46011916_46011917insCTA	ENST00000400368.1	-	1	469_470	c.449_450insTAG	c.(448-450)ccc>ccTAGc	p.150_151insS	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	150	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CCTGCTGGCAGGGGGAGGAGGT	0.599													False	0	True	21:46011916	0	CTA	46011917	-	CTA	46011916	7	5	49	1	0	1	1	0	0	0	0	0	8563	987	35	0	651	0	KRTAP10-6	21	46011916	In_Frame_Ins	INS	-	TCGA-FB-AAQ3-01A-11D-A40W-08		46011916	2117979	67	4023											
UBE2G2	7327	broad.mit.edu	37	chr21	46191357	46191357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactgctcccggtcatcgcGccacattttggacgcatcca	9	15	1	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr21:46191357G>A	ENST00000345496.2	-	6	703	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_Missense_Mutation_p.R117C	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	145					protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		CGGTCATCGCGCCACATTTTG	0.532													False	0	False	21:46191357	0	A	46191357	G	A	46191357	3	1	49	1	0	0	0	0	1	0	0	0	16941	1087	38	1	68	1	UBE2G2	21	46191357	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	179441	46191357	1938538	68	4024											
CLCN4	0	broad.mit.edu	37	chrX	10188809	10188809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcccctgaagctgcggcGcatcctgaacctcagcccgt	9	17	1	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:10188809G>A	ENST00000380833.4	+	12	2475	c.2084G>A	c.(2083-2085)cGc>cAc	p.R695H	CLCN4_ENST00000380829.1_Missense_Mutation_p.R664H|CLCN4_ENST00000421085.2_Missense_Mutation_p.R601H	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	695						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCTGCGGCGCATCCTGAAC	0.592													False	0	False	X:10188809	0	A	10188809	G	A	10188809	3	1	49	1	0	0	0	0	1	0	0	0	3488	1087	38	1	2122	1	CLCN4	23	10188809	Missense_Mutation	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08		10188809	145081751	69	4025											
DCAF8L2	347442	broad.mit.edu	37	chrX	27766129	27766129	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgggactgtatacaattActgtgaatcccgccaatacc	8	10	0	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:27766129A>G	ENST00000451261.2	+	5	1516	c.1117A>G	c.(1117-1119)Act>Gct	p.T373A		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GTATACAATTACTGTGAATCC	0.403													False	0	False	X:27766129	0	G	27766129	A	G	27766129	3	3	49	1	0	0	0	0	1	0	0	0	4303	391	14	4	1119	4	DCAF8L2	23	27766129	Missense_Mutation	SNP	A	TCGA-FB-AAQ3-01A-11D-A40W-08	17577320	27766129	127504431	70	4026											
MAGEB1	4112	broad.mit.edu	37	chrX	30269201	30269201	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgattgggactttcccagGaatgggcttctgatgcctct	11	9	2	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:30269201G>A	ENST00000378981.3	+	4	912	c.591G>A	c.(589-591)agG>agA	p.R197R	MAGEB1_ENST00000397548.2_Silent_p.R197R|MAGEB1_ENST00000397550.1_Silent_p.R197R	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	197	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ACTTTCCCAGGAATGGGCTTC	0.488													False	0	False	X:30269201	0	A	30269201	G	A	30269201	2	1	49	1	0	0	0	0	0	0	0	1	9239	1165	41	2		2	MAGEB1	23	30269201	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	2503072	30269201	125001359	71	4027											
PRAF2	11230	broad.mit.edu	37	chrX	48931491	48931491	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgagagcgaggccgatgccGaagcagagaaggtagttggt	18	7	0	2			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:48931491G>A	ENST00000376390.4	-	1	239	c.156C>T	c.(154-156)ttC>ttT	p.F52F	PRAF2_ENST00000491199.1_5'UTR|WDR45_ENST00000553851.1_Intron|PRAF2_ENST00000376386.3_Silent_p.F52F|AF196779.12_ENST00000376358.3_Intron	NM_007213.1	NP_009144.1			PRA1 domain family, member 2											endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						GGCCGATGCCGAAGCAGAGAA	0.657													False	0	False	X:48931491	0	A	48931491	G	A	48931491	2	1	49	1	0	0	0	0	0	0	0	1	12496	1049	37	1		1	PRAF2	23	48931491	Silent	SNP	G	TCGA-FB-AAQ3-01A-11D-A40W-08	18662290	48931491	106339069	72	4028											
STAG2	10735	broad.mit.edu	37	chrX	123181240	123181240	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agctttggtgaatgtggcacTaaatcttagcattaatatgg	10	5	1	1			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:123181240T>A	ENST00000371160.1	+	9	994	c.704T>A	c.(703-705)cTa>cAa	p.L235Q	STAG2_ENST00000218089.9_Missense_Mutation_p.L235Q|STAG2_ENST00000371145.3_Missense_Mutation_p.L235Q|STAG2_ENST00000354548.5_Missense_Mutation_p.L166Q|STAG2_ENST00000371157.3_Missense_Mutation_p.L235Q|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.L235Q	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	235					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATGTGGCACTAAATCTTAGC	0.328													False	0	True	X:123181240	0	A	123181240	T	A	123181240	3	1	49	1	0	0	0	0	1	0	0	0	15325	1522	53	5	730	5	STAG2	23	123181240	Missense_Mutation	SNP	T	TCGA-FB-AAQ3-01A-11D-A40W-08	74249749	123181240	32089320	73	4029											
MCF2	4168	broad.mit.edu	37	chrX	138678769	138678769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttctccactttcaacaCgccttttgcaaaaaacaatg	4	13	2	0			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:138678769C>T	ENST00000520602.1	-	22	2681	c.2396G>A	c.(2395-2397)cGt>cAt	p.R799H	MCF2_ENST00000519895.1_Missense_Mutation_p.R815H|MCF2_ENST00000370573.4_Missense_Mutation_p.R739H|MCF2_ENST00000414978.1_Missense_Mutation_p.R799H|MCF2_ENST00000536274.1_Missense_Mutation_p.R700H|MCF2_ENST00000370578.4_Missense_Mutation_p.R884H|MCF2_ENST00000370576.4_Missense_Mutation_p.R739H|MCF2_ENST00000338585.6_Missense_Mutation_p.R755H			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	739	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ACTTTCAACACGCCTTTTGCA	0.383													False	0	False	X:138678769	0	T	138678769	C	T	138678769	3	4	49	1	0	0	0	0	1	0	0	0	9445	536	19	1	617	1	MCF2	23	138678769	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	15497529	138678769	16591791	74	4030											
FATE1	89885	broad.mit.edu	37	chrX	150890398	150890398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggacagatgcagtggCgcagactagcctggaagagt	15	10	0	3	rs144817068		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:150890398C>T	ENST00000370350.3	+	4	450	c.365C>T	c.(364-366)gCg>gTg	p.A122V		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	122						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCAGTGGCGCAGACTAGC	0.547													False	0	False	X:150890398	0	T	150890398	C	T	150890398	3	4	49	1	0	0	0	0	1	0	0	0	5733	768	27	1	379	1	FATE1	23	150890398	Missense_Mutation	SNP	C	TCGA-FB-AAQ3-01A-11D-A40W-08	12211629	150890398	4380162	75	4031											
PANK4	55229	broad.mit.edu	37	chr1	2444410	2444410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgccgttcctcccagccCagcgcgtccagggagcgcac	12	18	0	0			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:2444410C>T	ENST00000378466.3	-	13	1656	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L	PANK4_ENST00000435556.3_Silent_p.L509L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	548					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCTCCCAGCCCAGCGCGTCCA	0.677													False	0	True	1:2444410	0	T	2444410	C	T	2444410	2	4	50	1	0	0	0	0	0	0	0	1	11487	581	21	2		2	PANK4	1	2444410	Silent	SNP	C	TCGA-H6-8124-01A-11D-2396-08		2444410	246806211	1	4032											
AJAP1	55966	broad.mit.edu	37	chr1	4772528	4772528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccaacacatttccgggcGtttacggccccaccacggtc	9	16	0	0	rs138033447		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:4772528G>A	ENST00000378191.4	+	2	979	c.598G>A	c.(598-600)Gtt>Att	p.V200I	AJAP1_ENST00000378190.3_Missense_Mutation_p.V200I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	200	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATTTCCGGGCGTTTACGGCCC	0.652													False	0	True	1:4772528	0	A	4772528	G	A	4772528	3	1	50	1	0	0	0	0	1	0	0	0	438	1145	40	1	604	1	AJAP1	1	4772528	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08	2328118	4772528	244478093	2	4033											
DEPDC1	55635	broad.mit.edu	37	chr1	68952619	68952619	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacacatatatttaacttaCaatttgctaggcacttcatg	4	9	1	0			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:68952619C>A	ENST00000456315.2	-	6	884		c.e6+1		DEPDC1_ENST00000370966.5_Splice_Site	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1						intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ATTTAACTTACAATTTGCTAG	0.328													False	0	False	1:68952619	0	A	68952619	C	A	68952619	5	1	50	1	0	0	0	0	0	0	1	0	4469	492	17	3	1693	3	DEPDC1	1	68952619	Splice_Site	SNP	C	TCGA-H6-8124-01A-11D-2396-08	64180091	68952619	180298002	3	4034											
CASQ2	845	broad.mit.edu	37	chr1	116243875	116243877	+	In_Frame_Del	DEL	TCG	TCG	-													agttgggctattcatcatcaTcgtcatcactgtcatcatta					rs7413162	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:116243875_116243877delTCG	ENST00000261448.5	-	11	1424_1426	c.1185_1187delCGA	c.(1183-1188)gacgat>gat	p.395_396DD>D	CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	395	Asp/Glu-rich (acidic).				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		Ttcatcatcatcgtcatcactgt	0.404													False	1	True	1:116243875	0	-	116243877	TCG	-	116243875	7	5	50	1	0	1	0	1	0	0	0	0	2701	1435	50	0	16	0	CASQ2	1	116243875	In_Frame_Del	DEL	TCG	TCGA-H6-8124-01A-11D-2396-08	47291256	116243875	133006746	4	4035											
IGSF8	93185	broad.mit.edu	37	chr1	160063798	160063798	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgggcacagatcgcccAaaggacactgccaggtgtgt	13	13	0	1			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:160063798A>C	ENST00000368086.1	-	3	822	c.606T>G	c.(604-606)ttT>ttG	p.F202L	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.F202L			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	202	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGATCGCCCAAAGGACACTG	0.637													False	0	True	1:160063798	0	C	160063798	A	C	160063798	3	2	50	1	0	0	0	0	1	0	0	0	7654	127	5	4	1251	4	IGSF8	1	160063798	Missense_Mutation	SNP	A	TCGA-H6-8124-01A-11D-2396-08	43819923	160063798	89186823	5	4036											
KLHDC8A	55220	broad.mit.edu	37	chr1	205312365	205312365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccacttgcctttggccGtgacagaaatgcccatggcg	12	14	0	2			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr1:205312365G>A	ENST00000367156.3	-	5	1184	c.368C>T	c.(367-369)aCg>aTg	p.T123M	KLHDC8A_ENST00000539253.1_Missense_Mutation_p.T123M|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.T123M|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000460687.1_Intron	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	123										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCCTTTGGCCGTGACAGAAAT	0.592													False	0	False	1:205312365	0	A	205312365	G	A	205312365	3	1	50	1	0	0	0	0	1	0	0	0	8412	1145	40	1	704	1	KLHDC8A	1	205312365	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08	45248567	205312365	43938256	6	4037											
PXDN	7837	broad.mit.edu	37	chr2	1670184	1670184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcggggggtggcctgtggCgctgcactccagcgtgacgc	19	13	0	1			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:1670184C>T	ENST00000252804.4	-	10	1143	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	365	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGCCTGTGGCGCTGCACTCC	0.587													False	0	False	2:1670184	0	T	1670184	C	T	1670184	3	4	50	1	0	0	0	0	1	0	0	0	12926	768	27	1	3402	1	PXDN	2	1670184	Missense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08		1670184	241529189	7	4038											
PLCD4	84812	broad.mit.edu	37	chr2	219500518	219500518	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attccagagccctgactacaGgtgatcagcggtcagcaact	10	12	2	3			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:219500518G>C	ENST00000450993.2	+	14	2235		c.e14-1		PLCD4_ENST00000417849.1_Splice_Site|PLCD4_ENST00000432688.1_Splice_Site	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4						intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTGACTACAGGTGATCAGCG	0.532													False	0	False	2:219500518	0	C	219500518	G	C	219500518	5	2	50	1	0	0	0	0	0	0	1	0	12102	1014	35	5	1946	5	PLCD4	2	219500518	Splice_Site	SNP	G	TCGA-H6-8124-01A-11D-2396-08	217830334	219500518	23698855	8	4039											
UGT1A4	0	broad.mit.edu	37	chr2	234627639	234627639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgccagaggccaccaggCggtggtcctcaccccagagg	13	16	1	2	rs141408391		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr2:234627639C>T	ENST00000373409.3	+	1	216	c.173C>T	c.(172-174)gCg>gTg	p.A58V	UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		GGCCACCAGGCGGTGGTCCTC	0.572													False	0	False	2:234627639	0	T	234627639	C	T	234627639	3	4	50	1	0	0	0	0	1	0	0	0	17031	768	27	1	175	1	UGT1A4	2	234627639	Missense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08	15127121	234627639	8571734	9	4040											
CELSR3	1951	broad.mit.edu	37	chr3	48699138	48699138	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgacgaaagcgtgcccggttCgccgaggttactttcctggc	13	13	0	0			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:48699138C>T	ENST00000544264.1	-	1	1210	c.930G>A	c.(928-930)gcG>gcA	p.A310A	CELSR3_ENST00000164024.4_Silent_p.A310A			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	310					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.A310A(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCCCGGTTCGCCGAGGTTA	0.706													False	0	False	3:48699138	0	T	48699138	C	T	48699138	2	4	50	1	0	0	0	0	0	0	0	1	3246	871	31	1		1	CELSR3	3	48699138	Silent	SNP	C	TCGA-H6-8124-01A-11D-2396-08		48699138	149323292	10	4041											
TOPBP1	11073	broad.mit.edu	37	chr3	133327737	133327737	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttgctcctcctgactgaaGaaggcgtttgaagcctgctt	10	11	0	4			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:133327737G>A	ENST00000260810.5	-	26	4374	c.4243C>T	c.(4243-4245)Ctt>Ttt	p.L1415F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1415	BRCT 8.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CCTGACTGAAGAAGGCGTTTG	0.368								Other conserved DNA damage response genes					False	0	False	3:133327737	0	A	133327737	G	A	133327737	3	1	50	1	0	0	0	0	1	0	0	0	16452	942	33	2	337	2	TOPBP1	3	133327737	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08	84628599	133327737	64694693	11	4042											
RAP2B	5912	broad.mit.edu	37	chr3	152880927	152880962	+	In_Frame_Del	DEL	AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	-													tcatggagacgtcggccaaaAacaaagcctcggtagacgag					rs138892831		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	-	-	AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr3:152880927_152880962delAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	ENST00000323534.2	+	1	899_934	c.445_480delAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	c.(445-480)aacaaagcctcggtagacgagctatttgccgagatcdel	p.NKASVDELFAEI149del		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	149					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GTCGGCCAAAAACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATCGTGCGGCAGA	0.661													False	1	False	3:152880927	0	-	152880962	AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	-	152880927	7	5	50	1	0	1	0	1	0	0	0	0	13120	14	1	0	447	0	RAP2B	3	152880927	In_Frame_Del	DEL	AACAAAGCCTCGGTAGACGAGCTATTTGCCGAGATC	TCGA-H6-8124-01A-11D-2396-08	19553190	152880927	45141503	12	4043											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306490	2306490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcgaccgcagagtccaggGaagtgggcgatttggggttg	19	7	0	1			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:2306490G>A	ENST00000290974.2	-	8	1916	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S496F|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S456F	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	526					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						AGAGTCCAGGGAAGTGGGCGA	0.667													False	0	True	4:2306490	0	A	2306490	G	A	2306490	3	1	50	1	0	0	0	0	1	0	0	0	17753	1174	41	2	1110	2	ZFYVE28	4	2306490	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08		2306490	188847786	13	4044											
LRPAP1	4043	broad.mit.edu	37	chr4	3516576	3516582	+	Frame_Shift_Del	DEL	AGCTTCT	AGCTTCT	-													ccacgctctctgcgtgcctcAgcttctcgtgcgcaatctcc							TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	AGCTTCT	AGCTTCT	-	-	AGCTTCT	AGCTTCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:3516576_3516582delAGCTTCT	ENST00000500728.2	-	7	1054_1060	c.908_914delAGAAGCT	c.(907-915)gagaagctgfs	p.EKL303fs	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	303	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGCGTGCCTCAGCTTCTCGTGCGCAAT	0.614													False	1	False	4:3516576	0	-	3516582	AGCTTCT	-	3516576	7	5	50	1	0	1	0	1	0	0	0	0	9026	188	7	0	167	0	LRPAP1	4	3516576	Frame_Shift_Del	DEL	AGCTTCT	TCGA-H6-8124-01A-11D-2396-08	1210086	3516576	187637700	14	4045											
GRID2	2895	broad.mit.edu	37	chr4	94006305	94006305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggctgtggactcacccGgagcaacaggaatgatgact	14	9	1	2			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr4:94006305G>A	ENST00000282020.4	+	3	662	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	135					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGACTCACCCGGAGCAACAGG	0.537													False	0	True	4:94006305	0	A	94006305	G	A	94006305	3	1	50	1	0	0	0	0	1	0	0	0	6819	1116	39	1	414	1	GRID2	4	94006305	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08	90489729	94006305	97147971	15	4046											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	50	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-H6-8124-01A-11D-2396-08		78610444	102304816	16	4047											
IL12B	3593	broad.mit.edu	37	chr5	158750144	158750144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgaatggcttagaacctcGcctcctttgtgacaggtgta	11	10	0	2	rs142017503		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr5:158750144G>A	ENST00000231228.2	-	3	737	c.282C>T	c.(280-282)ggC>ggT	p.G94G		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	94	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAGAACCTCGCCTCCTTTGT	0.478													False	0	False	5:158750144	0	A	158750144	G	A	158750144	2	1	50	1	0	0	0	0	0	0	0	1	7675	1074	38	1		1	IL12B	5	158750144	Silent	SNP	G	TCGA-H6-8124-01A-11D-2396-08	80139700	158750144	22165116	17	4048											
DLL1	28514	broad.mit.edu	37	chr6	170597430	170597430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggggacggcagaaaacGgagcagccctctccgtagta	13	13	1	1			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr6:170597430G>A	ENST00000366756.3	-	4	900	c.567C>T	c.(565-567)tcC>tcT	p.S189S		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	189	DSL.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGCAGAAAACGGAGCAGCCCT	0.632													False	0	False	6:170597430	0	A	170597430	G	A	170597430	2	1	50	1	0	0	0	0	0	0	0	1	4596	1103	39	1		1	DLL1	6	170597430	Silent	SNP	G	TCGA-H6-8124-01A-11D-2396-08		170597430	517637	18	4049											
CBX3	11335	broad.mit.edu	37	chr7	26246131	26246132	+	Splice_Site	INS	-	-	CTGACAA													agtggaagggatttacagagINStaagaaactttagtgcatct							TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:26246131_26246132insCTGACAA	ENST00000337620.4	+	3	595		c.e3+1		CBX3_ENST00000497498.1_Splice_Site|CBX3_ENST00000396386.2_Splice_Site|CBX3_ENST00000409747.1_Splice_Site	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3						chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						GATTTACAGAGTAAGAAACTTT	0.386													False	0	False	7:26246131	0	CTGACAA	26246132	-	CTGACAA	26246131	8	5	50	1	0	1	1	0	0	0	1	0	2739	1043	36	0	174	0	CBX3	7	26246131	Splice_Site	INS	-	TCGA-H6-8124-01A-11D-2396-08		26246131	132892532	19	4050											
POM121L12	285877	broad.mit.edu	37	chr7	53103972	53103972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggttcgaggtctcagacaGcaagggtggcaggcggaacc	17	9	1	1			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:53103972G>A	ENST00000408890.4	+	1	624	c.608G>A	c.(607-609)aGc>aAc	p.S203N		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	203										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GTCTCAGACAGCAAGGGTGGC	0.667													False	0	False	7:53103972	0	A	53103972	G	A	53103972	3	1	50	1	0	0	0	0	1	0	0	0	12310	971	34	2	610	2	POM121L12	7	53103972	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08	26857841	53103972	106034691	20	4051											
ADAM22	53616	broad.mit.edu	37	chr7	87564445	87564445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgctcgggcggcgaagacGaaagtcggcacgacgcgctc	15	14	0	1			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:87564445G>A	ENST00000398204.4	+	2	513	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ADAM22_ENST00000398201.4_Missense_Mutation_p.E64K|ADAM22_ENST00000439864.1_Missense_Mutation_p.E64K|ADAM22_ENST00000265727.7_Missense_Mutation_p.E64K|ADAM22_ENST00000315984.7_Missense_Mutation_p.E64K|ADAM22_ENST00000398209.3_Missense_Mutation_p.E64K	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	64					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CGGCGAAGACGAAAGTCGGCA	0.687													False	0	True	7:87564445	0	A	87564445	G	A	87564445	3	1	50	1	0	0	0	0	1	0	0	0	244	1059	37	1	196	1	ADAM22	7	87564445	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08	34460473	87564445	71574218	21	4052											
CUX1	1523	broad.mit.edu	37	chr7	101870648	101870648	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtgctttaattacagaAagcactccaaagacctccgc	7	12	0	2			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr7:101870648A>C	ENST00000360264.3	+	21	3185	c.3165A>C	c.(3163-3165)gaA>gaC	p.E1055D	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000546411.2_Splice_Site_p.E942D|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Splice_Site_p.E1022D|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Splice_Site_p.E886D|CUX1_ENST00000292535.7_Splice_Site_p.E1044D|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Splice_Site_p.E988D|CUX1_ENST00000560541.1_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1044					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TAATTACAGAAAGCACTCCAA	0.512													False	0	True	7:101870648	0	C	101870648	A	C	101870648	5	2	50	1	0	0	0	0	0	0	1	0	4089	28	1	4	3281	4	CUX1	7	101870648	Splice_Site	SNP	A	TCGA-H6-8124-01A-11D-2396-08	14306203	101870648	57268015	22	4053											
HR	55806	broad.mit.edu	37	chr8	21986391	21986391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcatggcctccttccagCgcagtccctctttgctgccc	8	17	1	0			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:21986391C>T	ENST00000381418.4	-	2	1773	c.293G>A	c.(292-294)cGc>cAc	p.R98H	HR_ENST00000312841.8_Missense_Mutation_p.R98H	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	98							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTCCTTCCAGCGCAGTCCCTC	0.652													False	0	False	8:21986391	0	T	21986391	C	T	21986391	3	4	50	1	0	0	0	0	1	0	0	0	7394	768	27	1	3348	1	HR	8	21986391	Missense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08		21986391	124377631	23	4054											
CLU	1191	broad.mit.edu	37	chr8	27463908	27463908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagccacttctgcagacgCgtgcgtagaacttcatgcag	11	12	2	3			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:27463908C>T	ENST00000316403.10	-	4	785	c.380G>A	c.(379-381)cGc>cAc	p.R127H	CLU_ENST00000405140.3_Missense_Mutation_p.R127H|CLU_ENST00000560366.1_Missense_Mutation_p.R179H|CLU_ENST00000523500.1_Missense_Mutation_p.R127H|CLU_ENST00000546343.1_Missense_Mutation_p.R138H			P10909	CLUS_HUMAN	clusterin	127					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TCTGCAGACGCGTGCGTAGAA	0.572													False	0	True	8:27463908	0	T	27463908	C	T	27463908	3	4	50	1	0	0	0	0	1	0	0	0	3591	768	27	1	993	1	CLU	8	27463908	Missense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08	5477517	27463908	118900114	24	4055											
ADCK5	203054	broad.mit.edu	37	chr8	145616829	145616829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttcgagaatgagggccGcaacgcagagcgctgtgcgc	16	11	0	3			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr8:145616829G>A	ENST00000308860.6	+	8	892	c.848G>A	c.(847-849)cGc>cAc	p.R283H	ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	283	Protein kinase.			R -> G (in Ref. 2; AAH85013).		integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AATGAGGGCCGCAACGCAGAG	0.677													False	0	False	8:145616829	0	A	145616829	G	A	145616829	3	1	50	1	0	0	0	0	1	0	0	0	291	1087	38	1	878	1	ADCK5	8	145616829	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08	118152921	145616829	747193	25	4056											
CDKN2A	1029	broad.mit.edu	37	chr9	21974782	21974782	+	Nonsense_Mutation	SNP	C	C	T													cgggccgcggccgtggccagCcagtcagccgaaggctccat					rs138677674		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:21974782C>T	ENST00000304494.5	-	1	315	c.45G>A	c.(43-45)tgG>tgA	p.W15*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W15*|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	15					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.W15*(3)|p.S12fs*6(1)|p.L16fs*9(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGTGGCCAGCCAGTCAGCCG	0.756		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21974782	0	T	21974782	C	T	21974782	4	4	50	1	0	0	0	0	0	1	0	0	3184	740	26	2	638	2	CDKN2A	9	21974782	Nonsense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08		21974782	119238649	26	4057	37	2									
CDKN2A	1029	broad.mit.edu	37	chr9	21974786	21974786	+	Missense_Mutation	SNP	T	T	C													ccgcggccgtggccagccagTcagccgaaggctccatgctg							TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:21974786T>C	ENST00000304494.5	-	1	311	c.41A>G	c.(40-42)gAc>gGc	p.D14G	CDKN2A_ENST00000446177.1_Missense_Mutation_p.D14G|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D14G|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D14G|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	14			D -> E (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.S12fs*6(1)|p.0(1)|p.D14V(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCCAGCCAGTCAGCCGAAGG	0.761		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21974786	0	C	21974786	T	C	21974786	3	2	50	1	0	0	0	0	1	0	0	0	3184	1667	58	4	642	4	CDKN2A	9	21974786	Missense_Mutation	SNP	T	TCGA-H6-8124-01A-11D-2396-08	4	21974786	119238645	27	4058	37	2									
AQP7	364	broad.mit.edu	37	chr9	33386412	33386412	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggatactcactgtagaagagActgtagatggtggcagccgc	14	8	1	3			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:33386412A>T	ENST00000537089.1	-	4	438	c.120T>A	c.(118-120)agT>agA	p.S40R	AQP7_ENST00000539936.1_Missense_Mutation_p.S132R|AQP7_ENST00000377425.4_Missense_Mutation_p.S75R|AQP7_ENST00000541274.1_Missense_Mutation_p.S40R			O14520	AQP7_HUMAN	aquaporin 7	132					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TGTAGAAGAGACTGTAGATGG	0.577													False	0	False	9:33386412	0	T	33386412	A	T	33386412	3	4	50	1	0	0	0	0	1	0	0	0	833	272	10	5	648	5	AQP7	9	33386412	Missense_Mutation	SNP	A	TCGA-H6-8124-01A-11D-2396-08	11411626	33386412	107827019	28	4059											
TGFBR1	7046	broad.mit.edu	37	chr9	101911535	101911535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctaggcttacagcattgcGgattaagaaaacattatcgc	9	8	0	1	rs113605875		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:101911535G>A	ENST00000374994.4	+	9	1577	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	TGFBR1_ENST00000374990.2_Missense_Mutation_p.R410Q|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R491Q|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R418Q	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	487	Protein kinase.		R -> P (in LDS1A and LDS2A).|R -> Q (in LDS2A and AAT5).|R -> W (in LDS2A).		activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACAGCATTGCGGATTAAGAAA	0.373													False	0	False	9:101911535	0	A	101911535	G	A	101911535	3	1	50	1	0	0	0	0	1	0	0	0	15903	1116	39	1	1494	1	TGFBR1	9	101911535	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08	68525123	101911535	39301896	29	4060											
WDR31	114987	broad.mit.edu	37	chr9	116093321	116093321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcagccacgacagagacGgtatccatgtgagctgggct	13	10	0	2			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr9:116093321G>A	ENST00000374193.4	-	4	438	c.192C>T	c.(190-192)acC>acT	p.T64T	WDR31_ENST00000374195.3_Intron|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Silent_p.T63T	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	64										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CGACAGAGACGGTATCCATGT	0.428													False	0	False	9:116093321	0	A	116093321	G	A	116093321	2	1	50	1	0	0	0	0	0	0	0	1	17370	1103	39	1		1	WDR31	9	116093321	Silent	SNP	G	TCGA-H6-8124-01A-11D-2396-08	14181786	116093321	25120110	30	4061											
PRTFDC1	56952	broad.mit.edu	37	chr10	25138811	25138811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaccgtgctcattgatgaCgcatatgtgctgaaacaata	8	8	1	3			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr10:25138811C>A	ENST00000320152.6	-	9	668	c.640G>T	c.(640-642)Gtc>Ttc	p.V214F	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R188L	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	214					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TCATTGATGACGCATATGTGC	0.378													False	0	False	10:25138811	0	A	25138811	C	A	25138811	3	1	50	1	0	0	0	0	1	0	0	0	12713	536	19	3	41	3	PRTFDC1	10	25138811	Missense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08		25138811	110395936	31	4062											
ADD3	120	broad.mit.edu	37	chr10	111876161	111876161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcacacctggcaaatacctAtatctcagtgagttcttcag	8	11	3	1			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr10:111876161A>G	ENST00000277900.8	+	4	844	c.479A>G	c.(478-480)tAt>tGt	p.Y160C	ADD3_ENST00000360162.3_Missense_Mutation_p.Y160C|ADD3_ENST00000356080.4_Missense_Mutation_p.Y160C|ADD3_ENST00000497125.1_3'UTR	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	160						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GCAAATACCTATATCTCAGTG	0.403													False	0	False	10:111876161	0	G	111876161	A	G	111876161	3	3	50	1	0	0	0	0	1	0	0	0	306	449	16	4	489	4	ADD3	10	111876161	Missense_Mutation	SNP	A	TCGA-H6-8124-01A-11D-2396-08	86737350	111876161	23658586	32	4063											
MAP4K2	5871	broad.mit.edu	37	chr11	64564293	64564293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctaccccgagtaacagGgtgaatccaggtgacagcag	11	13	0	2			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:64564293G>A	ENST00000294066.2	-	21	1571	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	MAP4K2_ENST00000377350.3_Missense_Mutation_p.P486S	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	494	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CGAGTAACAGGGTGAATCCAG	0.637													False	0	True	11:64564293	0	A	64564293	G	A	64564293	3	1	50	1	0	0	0	0	1	0	0	0	9327	1232	43	2	1030	2	MAP4K2	11	64564293	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08		64564293	70442223	33	4064											
ARHGEF17	9828	broad.mit.edu	37	chr11	73076866	73076866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtactgtcagctgcccaCgggcaccactcagtcccaca	9	18	2	0			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:73076866C>T	ENST00000263674.3	+	20	6219	c.5869C>T	c.(5869-5871)Cgg>Tgg	p.R1957W		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1957					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGCTGCCCACGGGCACCACT	0.652													False	0	True	11:73076866	0	T	73076866	C	T	73076866	3	4	50	1	0	0	0	0	1	0	0	0	902	527	19	1	5947	1	ARHGEF17	11	73076866	Missense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08	8512573	73076866	61929650	34	4065											
MAML2	84441	broad.mit.edu	37	chr11	95724867	95724867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactggggcctgtgttctgGcctaccacagagtgttgatc	14	10	1	2			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr11:95724867G>A	ENST00000524717.1	-	3	3444	c.2160C>T	c.(2158-2160)ggC>ggT	p.G720G		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	720					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CTGTGTTCTGGCCTACCACAG	0.428			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								False	0	False	11:95724867	0	A	95724867	G	A	95724867	2	1	50	1	0	0	0	0	0	0	0	1	9273	1190	42	2		2	MAML2	11	95724867	Silent	SNP	G	TCGA-H6-8124-01A-11D-2396-08	22648001	95724867	39281649	35	4066											
ARHGDIB	397	broad.mit.edu	37	chr12	15095522	15095522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtcttgcttgtcatcGtcggtgaagaaggacttgtt	14	6	2	2			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:15095522G>A	ENST00000228945.4	-	6	684	c.540C>T	c.(538-540)gaC>gaT	p.D180D	ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Silent_p.D180D|ARHGDIB_ENST00000541546.1_Silent_p.D180D	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	180					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GCTTGTCATCGTCGGTGAAGA	0.567													False	0	False	12:15095522	0	A	15095522	G	A	15095522	2	1	50	1	0	0	0	0	0	0	0	1	893	1136	40	1		1	ARHGDIB	12	15095522	Silent	SNP	G	TCGA-H6-8124-01A-11D-2396-08		15095522	118756373	36	4067											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	50	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08	10302762	25398284	108453611	37	4068											
KRT2	3849	broad.mit.edu	37	chr12	53045775	53045777	+	In_Frame_Del	DEL	CCG	CCG	-													agccgcctccaccgaagcccCcgccaccaccaccatggcgg					rs11835758	byFrequency	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	CCG	CCG	-	-	CCG	CCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:53045775_53045777delCCG	ENST00000309680.3	-	1	171_173	c.150_152delCGG	c.(148-153)ggcggg>ggg	p.50_51GG>G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	50	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ACCGAAGCCCCCGCCACCACCAC	0.621													False	1	True	12:53045775	0	-	53045777	CCG	-	53045775	7	5	50	1	0	1	0	1	0	0	0	0	8507	623	22	0	1803	0	KRT2	12	53045775	In_Frame_Del	DEL	CCG	TCGA-H6-8124-01A-11D-2396-08	27647491	53045775	80806120	38	4069											
LRP1	4035	broad.mit.edu	37	chr12	57573330	57573330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaggcgtggagacagtcGtctctgcaggttcttcctgg	14	11	2	1			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:57573330G>A	ENST00000243077.3	+	29	5423	c.4957G>A	c.(4957-4959)Gtc>Atc	p.V1653I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1653					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGAGACAGTCGTCTCTGCAGG	0.632													False	0	False	12:57573330	0	A	57573330	G	A	57573330	3	1	50	1	0	0	0	0	1	0	0	0	9013	1145	40	1	5071	1	LRP1	12	57573330	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08	4527555	57573330	76278565	39	4070											
DUSP6	1848	broad.mit.edu	37	chr12	89743153	89743153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcccagcgtcctctcgaagtCcagcagctgacccatgaagt	9	15	1	2			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr12:89743153C>A	ENST00000279488.7	-	3	2255	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	DUSP6_ENST00000308385.6_Missense_Mutation_p.D196Y|DUSP6_ENST00000547291.1_Missense_Mutation_p.D217Y	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	342	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CTCTCGAAGTCCAGCAGCTGA	0.478													False	0	False	12:89743153	0	A	89743153	C	A	89743153	3	1	50	1	0	0	0	0	1	0	0	0	4859	855	30	3	125	3	DUSP6	12	89743153	Missense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08	32169823	89743153	44108742	40	4071											
N4BP2L2	10443	broad.mit.edu	37	chr13	33110585	33110585	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaaggttcagattcttTacaactgttctcaaaaccat	6	9	3	2			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:33110585T>C	ENST00000267068.3	-	2	744	c.580A>G	c.(580-582)Aaa>Gaa	p.K194E	N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.K194E|N4BP2L2_ENST00000504114.1_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	194										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCAGATTCTTTACAACTGTTC	0.299													False	0	True	13:33110585	0	C	33110585	T	C	33110585	3	2	50	1	0	0	0	0	1	0	0	0	10179	1763	61	4	3052	4	N4BP2L2	13	33110585	Missense_Mutation	SNP	T	TCGA-H6-8124-01A-11D-2396-08		33110585	82059293	41	4072											
SOHLH2	54937	broad.mit.edu	37	chr13	36744857	36744857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaggaattcagagacagCgctgcactggaaatgtgagt	13	7	1	2			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr13:36744857C>T	ENST00000379881.3	-	10	1156	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	SOHLH2_ENST00000554962.1_Silent_p.A433A|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A433A	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TCAGAGACAGCGCTGCACTGG	0.388													False	0	False	13:36744857	0	T	36744857	C	T	36744857	2	4	50	1	0	0	0	0	0	0	0	1	15004	755	27	1		1	SOHLH2	13	36744857	Silent	SNP	C	TCGA-H6-8124-01A-11D-2396-08	3634272	36744857	78425021	42	4073											
COX8C	341947	broad.mit.edu	37	chr14	93813699	93813699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcccgctccccgcttcGcccactcggggcccccgcgc	11	23	0	0			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr14:93813699G>A	ENST00000342144.2	+	1	163	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	29						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TCCCCGCTTCGCCCACTCGGG	0.756													False	0	True	14:93813699	0	A	93813699	G	A	93813699	3	1	50	1	0	0	0	0	1	0	0	0	3809	1087	38	1	87	1	COX8C	14	93813699	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08		93813699	13535841	43	4074											
OGFOD1	55239	broad.mit.edu	37	chr16	56509440	56509441	+	Frame_Shift_Ins	INS	-	-	GTTTTTTT													tgggagccagaatatggcggINSttttacttcttacattgcca					rs147207036	by1000genomes	TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr16:56509440_56509441insGTTTTTTT	ENST00000566157.1	+	12	1553_1554	c.1430_1431insGTTTTTTT	c.(1429-1434)ggttttfs	p.-478fs	OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.-435fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1								iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GAATATGGCGGTTTTACTTCTT	0.366													False	0	True	16:56509440	0	GTTTTTTT	56509441	-	GTTTTTTT	56509440	7	5	50	1	0	1	1	0	0	0	0	0	10909	1261	44	0	1476	0	OGFOD1	16	56509440	Frame_Shift_Ins	INS	-	TCGA-H6-8124-01A-11D-2396-08		56509440	33845313	44	4075											
KIAA0753	9851	broad.mit.edu	37	chr17	6524291	6524291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcaccttttttggtgacaGtttcttttccaggagagatt	8	7	2	2			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:6524291G>T	ENST00000361413.3	-	7	1490	c.1132C>A	c.(1132-1134)Ctg>Atg	p.L378M	KIAA0753_ENST00000572370.1_Missense_Mutation_p.L79M|KIAA0753_ENST00000542606.1_Missense_Mutation_p.L79M	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	378						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTTGGTGACAGTTTCTTTTCC	0.373													False	0	True	17:6524291	0	T	6524291	G	T	6524291	3	4	50	1	0	0	0	0	1	0	0	0	8241	1020	36	3	1823	3	KIAA0753	17	6524291	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08		6524291	74670919	45	4076											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	12	8	0	0			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:7577568C>T	ENST00000420246.2	-	7	845	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000269305.4_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAACTGTTACACATGTAGTT	0.572		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)			False	0	False	17:7577568	0	T	7577568	C	T	7577568	3	4	50	1	0	0	0	0	1	0	0	0	16464	478	17	2	577	2	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08	1053277	7577568	73617642	46	4077											
COIL	8161	broad.mit.edu	37	chr17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcgctctcggcggggggCaagagccccccctccaggta	15	17	1	1			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr17:55038183C>G	ENST00000240316.4	-	1	232	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	66						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697													False	0	True	17:55038183	0	G	55038183	C	G	55038183	3	3	50	1	0	0	0	0	1	0	0	0	3688	709	25	5	1560	5	COIL	17	55038183	Missense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08	47460615	55038183	26157027	47	4078											
SLC1A6	6511	broad.mit.edu	37	chr19	15083616	15083616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaggcgcaggcgcgtgCgcagtgctctctgctgcagg	16	13	2	0			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:15083616C>T	ENST00000598504.1	-	4	1466	c.107G>A	c.(106-108)cGc>cAc	p.R36H	SLC1A6_ENST00000544886.2_Missense_Mutation_p.R36H|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R36H|SLC1A6_ENST00000430939.2_Silent_p.A40A|SLC1A6_ENST00000221742.3_Missense_Mutation_p.R36H	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	36					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CAGGCGCGTGCGCAGTGCTCT	0.677													False	0	False	19:15083616	0	T	15083616	C	T	15083616	3	4	50	1	0	0	0	0	1	0	0	0	14517	768	27	1	1623	1	SLC1A6	19	15083616	Missense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08		15083616	44045367	48	4079											
MYO9B	4650	broad.mit.edu	37	chr19	17213029	17213029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcctgaagaacctcaagCaccgcttcctgcaacaaaag	6	15	1	2			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:17213029C>A	ENST00000595618.1	+	2	654	c.502C>A	c.(502-504)Cac>Aac	p.H168N	MYO9B_ENST00000594824.1_Missense_Mutation_p.H168N|MYO9B_ENST00000397274.2_Missense_Mutation_p.H168N|MYO9B_ENST00000593411.1_3'UTR	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	168	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAACCTCAAGCACCGCTTCCT	0.572													False	0	False	19:17213029	0	A	17213029	C	A	17213029	3	1	50	1	0	0	0	0	1	0	0	0	10152	710	25	3	504	3	MYO9B	19	17213029	Missense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08	2129413	17213029	41915954	49	4080											
ZNF585A	199704	broad.mit.edu	37	chr19	37644488	37644488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatttttctacattgatTatggtcccataatttctctc	6	8	2	1			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:37644488T>C	ENST00000356958.4	-	5	571	c.313A>G	c.(313-315)Aat>Gat	p.N105D	ZNF585A_ENST00000355533.2_Missense_Mutation_p.N50D|ZNF585A_ENST00000292841.5_Missense_Mutation_p.N50D|ZNF585A_ENST00000392157.2_Missense_Mutation_p.N50D|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTACATTGATTATGGTCCCAT	0.323													False	0	False	19:37644488	0	C	37644488	T	C	37644488	3	2	50	1	0	0	0	0	1	0	0	0	18100	1754	61	4	2000	4	ZNF585A	19	37644488	Missense_Mutation	SNP	T	TCGA-H6-8124-01A-11D-2396-08	20431459	37644488	21484495	50	4081											
FCGBP	8857	broad.mit.edu	37	chr19	40363276	40363276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacaggcagggccacagcctCgccgtccacggtgacctggg	14	16	0	1			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr19:40363276C>T	ENST00000221347.6	-	32	14801	c.14794G>A	c.(14794-14796)Gag>Aag	p.E4932K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4932	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCACAGCCTCGCCGTCCACG	0.652													False	0	False	19:40363276	0	T	40363276	C	T	40363276	3	4	50	1	0	0	0	0	1	0	0	0	5818	893	31	1	1443	1	FCGBP	19	40363276	Missense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08	2718788	40363276	18765707	51	4082											
XKR7	343702	broad.mit.edu	37	chr20	30584387	30584387	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgcgggactcgcgggaCgacaagcggccgctgtccta	16	13	0	0			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chr20:30584387C>T	ENST00000562532.2	+	3	1041	c.867C>T	c.(865-867)gaC>gaT	p.D289D		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACTCGCGGGACGACAAGCGGC	0.701													False	0	False	20:30584387	0	T	30584387	C	T	30584387	2	4	50	1	0	0	0	0	0	0	0	1	17520	535	19	1		1	XKR7	20	30584387	Silent	SNP	C	TCGA-H6-8124-01A-11D-2396-08		30584387	32441133	52	4083											
ARAF	369	broad.mit.edu	37	chrX	47426043	47426043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttcccctggcagcccccGcacccagcactgtgacccgg	9	21	0	1	rs66933407		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:47426043G>A	ENST00000377045.4	+	7	757	c.563G>A	c.(562-564)cGc>cAc	p.R188H	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	188					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.R188H(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGCAGCCCCCGCACCCAGCAC	0.622													False	0	True	X:47426043	0	A	47426043	G	A	47426043	3	1	50	1	0	0	0	0	1	0	0	0	839	1087	38	1	585	1	ARAF	23	47426043	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08		47426043	107844517	53	4084											
CLCN5	1184	broad.mit.edu	37	chrX	49854844	49854844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggcttagaatacatcGtgcctctgatggctgcagcc	12	11	1	2	rs138935720		TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:49854844G>A	ENST00000376088.3	+	13	2457	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	CLCN5_ENST00000307367.2_Missense_Mutation_p.V536M|CLCN5_ENST00000376091.3_Missense_Mutation_p.V606M|CLCN5_ENST00000376108.3_Missense_Mutation_p.V536M	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	536	CBS 1.				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AGAATACATCGTGCCTCTGAT	0.502													False	0	False	X:49854844	0	A	49854844	G	A	49854844	3	1	50	1	0	0	0	0	1	0	0	0	3489	1145	40	1	1858	1	CLCN5	23	49854844	Missense_Mutation	SNP	G	TCGA-H6-8124-01A-11D-2396-08	2428801	49854844	105415716	54	4085											
DGKK	139189	broad.mit.edu	37	chrX	50213545	50213556	+	RNA	DEL	GCGGCGGAGCCG	GCGGCGGAGCCG	-													tggcgaagcctcggagagcaGcggcggagccggcggcggag							TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	GCGGCGGAGCCG	GCGGCGGAGCCG	-	-	GCGGCGGAGCCG	GCGGCGGAGCCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:50213545_50213556delGCGGCGGAGCCG	ENST00000376025.2	-	0	181_192							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGGAGAgcagcggcggagccggcggcggagc	0.693													False	1	False	X:50213545	0	-	50213556	GCGGCGGAGCCG	-	50213545	6	5	50	0	1	1	0	1	0	0	0	0	4502	962	34	0		0	DGKK	23	50213545	RNA	DEL	GCGGCGGAGCCG	TCGA-H6-8124-01A-11D-2396-08	358701	50213545	105057015	55	4086											
FLNA	0	broad.mit.edu	37	chrX	153587767	153587767	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcccaggccgcccgtgcCagctcccctggtccaaacag	11	19	0	0			TCGA-H6-8124-01A-11D-2396-08	TCGA-H6-8124-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	575ab748-dec0-42a8-85a6-1e337f07b129	3952ea3a-0fab-4436-a3ec-3bbd1c7e24a2	g.chrX:153587767C>A	ENST00000422373.1	-	25	4398	c.4150G>T	c.(4150-4152)Ggc>Tgc	p.G1384C	FLNA_ENST00000369850.3_Missense_Mutation_p.G1384C|FLNA_ENST00000344736.4_Missense_Mutation_p.G1384C|FLNA_ENST00000360319.4_Missense_Mutation_p.G1384C	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1384					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGCCCGTGCCAGCTCCCCTG	0.647													False	0	False	X:153587767	0	A	153587767	C	A	153587767	3	1	50	1	0	0	0	0	1	0	0	0	5973	594	21	3	3889	3	FLNA	23	153587767	Missense_Mutation	SNP	C	TCGA-H6-8124-01A-11D-2396-08	103374222	153587767	1682793	56	4087											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	51	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-H6-A45N-01A-11D-A26I-08		22987385	226263236	1	4088											
BEND5	79656	broad.mit.edu	37	chr1	49208355	49208355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcggggtaataggacgaCgtatttgcttcctcactgaa	13	8	1	1	rs143430976		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:49208355C>T	ENST00000371833.3	-	4	920	c.834G>A	c.(832-834)acG>acA	p.T278T	AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	278										large_intestine(5)|lung(2)|skin(1)	8						AATAGGACGACGTATTTGCTT	0.478													False	0	False	1:49208355	0	T	49208355	C	T	49208355	2	4	51	1	0	0	0	0	0	0	0	1	1405	523	19	1		1	BEND5	1	49208355	Silent	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	26220970	49208355	200042266	2	4089											
ZCCHC11	23318	broad.mit.edu	37	chr1	52940826	52940826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatttcactgcttttgctgGtagaaagagatgaagagtcc	10	7	1	4			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:52940826G>A	ENST00000371544.3	-	13	2667	c.2405C>T	c.(2404-2406)aCc>aTc	p.T802I	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T802I	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	802					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCTTTTGCTGGTAGAAAGAGA	0.363													False	0	False	1:52940826	0	A	52940826	G	A	52940826	3	1	51	1	0	0	0	0	1	0	0	0	17663	1261	44	2	2604	2	ZCCHC11	1	52940826	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08	3732471	52940826	196309795	3	4090											
RPRD2	23248	broad.mit.edu	37	chr1	150444672	150444672	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagcacagaagaaaagggggCccctatagaaaccttgggtt	12	8	0	3			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:150444672C>G	ENST00000401000.4	+	10	3235	c.3170C>G	c.(3169-3171)gCc>gGc	p.A1057G	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.A1083G			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1083	Poly-Gln.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAAAAGGGGGCCCCTATAGAA	0.532													False	0	True	1:150444672	0	G	150444672	C	G	150444672	3	3	51	1	0	0	0	0	1	0	0	0	13696	739	26	5	3290	5	RPRD2	1	150444672	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	97503846	150444672	98805949	4	4091											
CD5L	922	broad.mit.edu	37	chr1	157805907	157805907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacccgcccttcacagcGgtggaggccccccaccagcc	9	22	1	0			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:157805907G>A	ENST00000368174.4	-	3	190	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	32	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTTCACAGCGGTGGAGGCCC	0.617													False	0	False	1:157805907	0	A	157805907	G	A	157805907	3	1	51	1	0	0	0	0	1	0	0	0	3050	1116	39	1	965	1	CD5L	1	157805907	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08	7361235	157805907	91444714	5	4092											
C2orf71	388939	broad.mit.edu	37	chr2	29296606	29296606	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagaggctccgggaagtcCactttgccttcaggctcatg	11	13	2	1			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:29296606C>T	ENST00000331664.5	-	1	521	c.522G>A	c.(520-522)gtG>gtA	p.V174V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	174					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCGGGAAGTCCACTTTGCCTT	0.502													False	0	False	2:29296606	0	T	29296606	C	T	29296606	2	4	51	1	0	0	0	0	0	0	0	1	2207	581	21	2		2	C2orf71	2	29296606	Silent	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08		29296606	213902767	6	4093											
SAP130	79595	broad.mit.edu	37	chr2	128712656	128712656	+	Frame_Shift_Del	DEL	C	C	-													ggaggaaagactgccacccaCagtgactgatggaggtggtg					rs112429524		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:128712656delC	ENST00000259234.6	-	16	2509	c.2323delG	c.(2323-2325)gtgfs	p.V775fs	SAP130_ENST00000357702.5_Frame_Shift_Del_p.V802fs|SAP130_ENST00000259235.3_Frame_Shift_Del_p.V767fs			Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	767	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CTGCCACCCACAGTGACTGAT	0.532													False	1	True	2:128712656	0	-	128712656	C	-	128712656	7	5	51	1	0	1	0	1	0	0	0	0	13910	478	17	0	871	0	SAP130	2	128712656	Frame_Shift_Del	DEL	C	TCGA-H6-A45N-01A-11D-A26I-08	99416050	128712656	114486717	7	4094											
KCNH7	90134	broad.mit.edu	37	chr2	163302689	163302689	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgaagtttattaaaatatCtatgataaacataatatcca	3	5	2	2			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:163302689C>T	ENST00000332142.5	-	7	1492	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D458N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	465					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATTAAAATATCTATGATAAAC	0.363													False	0	False	2:163302689	0	T	163302689	C	T	163302689	3	4	51	1	0	0	0	0	1	0	0	0	8087	913	32	2	2303	2	KCNH7	2	163302689	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	34590033	163302689	79896684	8	4095											
NBEAL1	65065	broad.mit.edu	37	chr2	204000806	204000807	+	Frame_Shift_Ins	INS	-	-	TG													agtttagacctcagtggaatINStgactcatgtgaaatgagtg							TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:204000806_204000807insTG	ENST00000449802.1	+	27	4466_4467	c.4133_4134insTG	c.(4132-4137)attgacfs	p.D1379fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1379							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCAGTGGAATTGACTCATGTG	0.436													False	1	False	2:204000806	0	TG	204000807	-	TG	204000806	7	5	51	1	0	1	1	0	0	0	0	0	10255	1493	52	0	4235	0	NBEAL1	2	204000806	Frame_Shift_Ins	INS	-	TCGA-H6-A45N-01A-11D-A26I-08	40698117	204000806	39198567	9	4096											
MYL1	4632	broad.mit.edu	37	chr2	211179819	211179819	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagttcctccaaaagaacCtgtcaaaatgattcttggaa	8	8	2	2			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:211179819C>A	ENST00000352451.3	-	0	95					NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast						muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		CCAAAAGAACCTGTCAAAATG	0.463													False	0	False	2:211179819	0	A	211179819	C	A	211179819	1	1	51	1	0	0	0	0	0	0	0	0	10110	696	24	3		3	MYL1	2	211179819	Translation_Start_Site	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	7179013	211179819	32019554	10	4097											
FN1	2335	broad.mit.edu	37	chr2	216263993	216263993	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtttaccttaaaaccaattCttggagcaggcgtccatgtg	9	9	1	0			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:216263993C>T	ENST00000354785.4	-	21	3704	c.3335G>A	c.(3334-3336)aGa>aAa	p.R1112K	FN1_ENST00000336916.4_Missense_Mutation_p.R1112K|FN1_ENST00000357867.4_Missense_Mutation_p.R1112K|FN1_ENST00000356005.4_Missense_Mutation_p.R1112K|FN1_ENST00000345488.5_Missense_Mutation_p.R1112K|FN1_ENST00000446046.1_Missense_Mutation_p.R1112K|FN1_ENST00000443816.1_Missense_Mutation_p.R1112K|FN1_ENST00000357009.2_Missense_Mutation_p.R1112K|FN1_ENST00000323926.6_Missense_Mutation_p.R1112K|FN1_ENST00000432072.2_Missense_Mutation_p.R1112K|FN1_ENST00000359671.1_Missense_Mutation_p.R1112K|FN1_ENST00000421182.1_Missense_Mutation_p.R1112K|FN1_ENST00000346544.3_Missense_Mutation_p.R1112K			P02751	FINC_HUMAN	fibronectin 1	1112	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAACCAATTCTTGGAGCAGG	0.493													False	0	False	2:216263993	0	T	216263993	C	T	216263993	3	4	51	1	0	0	0	0	1	0	0	0	6002	913	32	2	4202	2	FN1	2	216263993	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	5084174	216263993	26935380	11	4098											
PRKAG3	53632	broad.mit.edu	37	chr2	219694941	219694941	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccgtggccagctccacatcAtctgtgctggagcctgcagc	11	15	2	0			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:219694941A>T	ENST00000439262.2	-	4	413	c.318T>A	c.(316-318)gaT>gaA	p.D106E	PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000529249.1_Missense_Mutation_p.D131E|PRKAG3_ENST00000392098.3_Missense_Mutation_p.D131E	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	131					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCACATCATCTGTGCTGG	0.647													False	0	False	2:219694941	0	T	219694941	A	T	219694941	3	4	51	1	0	0	0	0	1	0	0	0	12578	214	8	5	1116	5	PRKAG3	2	219694941	Missense_Mutation	SNP	A	TCGA-H6-A45N-01A-11D-A26I-08	3430948	219694941	23504432	12	4099											
TPRG1	285386	broad.mit.edu	37	chr3	188933150	188933150	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agacttctggagagaccattCaaggcttctggctcttgaca	10	10	4	3			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr3:188933150C>T	ENST00000345063.3	+	3	447	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	TPRG1_ENST00000433971.1_Nonsense_Mutation_p.Q94*	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	94										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AGAGACCATTCAAGGCTTCTG	0.483													False	0	False	3:188933150	0	T	188933150	C	T	188933150	4	4	51	1	0	0	0	0	0	1	0	0	16501	827	29	2	286	2	TPRG1	3	188933150	Nonsense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08		188933150	9089280	13	4100											
SPATA5	166378	broad.mit.edu	37	chr4	123855729	123855729	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tactttttattttatttcttCaacaacaagagtcaatttta	2	6	3	1			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr4:123855729C>T	ENST00000274008.4	+	5	1052	c.983C>T	c.(982-984)tCa>tTa	p.S328L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTTATTTCTTCAACAACAAGA	0.343													False	0	True	4:123855729	0	T	123855729	C	T	123855729	3	4	51	1	0	0	0	0	1	0	0	0	15093	838	29	2	1001	2	SPATA5	4	123855729	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08		123855729	67298547	14	4101											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	51	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-H6-A45N-01A-11D-A26I-08		78610444	102304816	15	4102											
NRN1	51299	broad.mit.edu	37	chr6	6002623	6002623	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttcgtcttgtcgtccaggcCctgcgggtagttggccatgc	14	12	1	0			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:6002623C>G	ENST00000244766.2	-	2	380	c.163G>C	c.(163-165)Ggc>Cgc	p.G55R	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	55				GL -> AW (in Ref. 3; AAP97232).		anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TCGTCCAGGCCCTGCGGGTAG	0.612													False	0	True	6:6002623	0	G	6002623	C	G	6002623	3	3	51	1	0	0	0	0	1	0	0	0	10726	623	22	5	273	5	NRN1	6	6002623	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08		6002623	165112444	16	4103											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	51	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-H6-A45N-01A-11D-A26I-08	1390827	7393450	163721617	17	4104											
TMEM14B	81853	broad.mit.edu	37	chr6	10755436	10755436	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctactactatggaaaattCatgcctgtaggtttaattgc	7	8	1	0			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:10755436C>T	ENST00000473276.1	+	3	194	c.85C>T	c.(85-87)Cat>Tat	p.H29Y	TMEM14B_ENST00000379530.3_Silent_p.F54F|TMEM14B_ENST00000379542.5_Silent_p.F88F|TMEM14B_ENST00000475942.1_Silent_p.F88F|TMEM14B_ENST00000467317.1_Silent_p.F88F|TMEM14B_ENST00000461342.1_Silent_p.F54F|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000481240.1_Silent_p.F54F|TMEM14B_ENST00000491103.1_3'UTR|SYCP2L_ENST00000543878.1_Intron			Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	0						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				ATGGAAAATTCATGCCTGTAG	0.368													False	0	False	6:10755436	0	T	10755436	C	T	10755436	3	4	51	1	0	0	0	0	1	0	0	0	16146	825	29	2	278	2	TMEM14B	6	10755436	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	3361986	10755436	160359631	18	4105											
CAPN11	11131	broad.mit.edu	37	chr6	44137135	44137136	+	Frame_Shift_Ins	INS	-	-	AACAAACCAGGATGTGTAGGGACATACTGCATGCAGGTAGGGAA													aaccagagctttgaggagctINSgcgagcagcctgtctaagaa							TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:44137135_44137136insAACAAACCAGGATGTGTAGGGACATACTGCATGCAGGTAGGGAA	ENST00000398776.1	+	3	244_245	c.206_207insAACAAACCAGGATGTGTAGGGACATACTGCATGCAGGTAGGGAA	c.(205-210)ctgcgafs	p.R70fs	CAPN11_ENST00000542245.1_Frame_Shift_Ins_p.R70fs	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	70					proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTTGAGGAGCTGCGAGCAGCCT	0.579													False	0	False	6:44137135	0	AACAAACCAGGATGTGTAGGGACATACTGCATGCAGGTAGGGAA	44137136	-	AACAAACCAGGATGTGTAGGGACATACTGCATGCAGGTAGGGAA	44137135	7	5	51	1	0	1	1	0	0	0	0	0	2644	1580	55	0	216	0	CAPN11	6	44137135	Frame_Shift_Ins	INS	-	TCGA-H6-A45N-01A-11D-A26I-08	33381699	44137135	126977932	19	4106											
BACH2	60468	broad.mit.edu	37	chr6	90660239	90660239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccccgctcccgtcctccGcgtaggaataggaagagcag	12	15	0	1			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:90660239G>A	ENST00000257749.4	-	7	2293	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V	BACH2_ENST00000343122.3_Missense_Mutation_p.A529V|BACH2_ENST00000537989.1_Missense_Mutation_p.A529V|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	529						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCGTCCTCCGCGTAGGAATA	0.622													False	0	False	6:90660239	0	A	90660239	G	A	90660239	3	1	51	1	0	0	0	0	1	0	0	0	1288	1087	38	1	951	1	BACH2	6	90660239	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08	46523104	90660239	80454828	20	4107											
PSMB1	5689	broad.mit.edu	37	chr6	170852698	170852698	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggaattctaccttcttcatCaagtccaccgatgatgttgt	7	10	4	1			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:170852698C>G	ENST00000262193.6	-	4	522	c.424G>C	c.(424-426)Gat>Cat	p.D142H	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	142					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	CCTTCTTCATCAAGTCCACCG	0.423													False	0	False	6:170852698	0	G	170852698	C	G	170852698	3	3	51	1	0	0	0	0	1	0	0	0	12750	826	29	5	313	5	PSMB1	6	170852698	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	80192459	170852698	262369	21	4108											
ANKMY2	57037	broad.mit.edu	37	chr7	16655415	16655415	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgataattttgtgcagcgggCctgccaactttgggggcagt	14	8	0	1			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:16655415C>A	ENST00000306999.2	-	5	728	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	162						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GTGCAGCGGGCCTGCCAACTT	0.428													False	0	True	7:16655415	0	A	16655415	C	A	16655415	3	1	51	1	0	0	0	0	1	0	0	0	635	739	26	3	864	3	ANKMY2	7	16655415	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08		16655415	142483248	22	4109											
GARS	2617	broad.mit.edu	37	chr7	30662035	30662035	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtatcttgccatttgtgatGagtgctacattacagaaatg	9	6	1	3			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:30662035G>A	ENST00000389266.3	+	12	1811	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	524					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CATTTGTGATGAGTGCTACAT	0.423													False	0	False	7:30662035	0	A	30662035	G	A	30662035	3	1	51	1	0	0	0	0	1	0	0	0	6285	1291	45	2	1616	2	GARS	7	30662035	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08	14006620	30662035	128476628	23	4110											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	51	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-H6-A45N-01A-11D-A26I-08	13491743	44153778	114984885	24	4111											
MGAM	8972	broad.mit.edu	37	chr7	141759383	141759383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgaaggctgatgggatgCgggtcatcctcattctggtt	14	8	3	2			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:141759383C>T	ENST00000475668.2	+	32	3985	c.3931C>T	c.(3931-3933)Cgg>Tgg	p.R1311W	MGAM_ENST00000549489.2_Missense_Mutation_p.R1311W			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1311	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGATGGGATGCGGGTCATCCT	0.512													False	0	True	7:141759383	0	T	141759383	C	T	141759383	3	4	51	1	0	0	0	0	1	0	0	0	9608	759	27	1	4053	1	MGAM	7	141759383	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	97605605	141759383	17379280	25	4112											
DLGAP2	9228	broad.mit.edu	37	chr8	1626396	1626396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagacacggacgttttaaaCgttctaacagcgtcacggcc	10	12	2	1			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:1626396C>T	ENST00000421627.2	+	9	2199	c.2065C>T	c.(2065-2067)Cgt>Tgt	p.R689C		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	768					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGTTTTAAACGTTCTAACAG	0.557													False	0	True	8:1626396	0	T	1626396	C	T	1626396	3	4	51	1	0	0	0	0	1	0	0	0	4590	536	19	1	2095	1	DLGAP2	8	1626396	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08		1626396	144737626	26	4113											
UNC13B	10497	broad.mit.edu	37	chr9	35236562	35236562	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actgtgtggattgcgctgaaGactattcgtcagtcggatga	13	7	1	3			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:35236562G>C	ENST00000378495.3	+	4	471	c.249G>C	c.(247-249)aaG>aaC	p.K83N	UNC13B_ENST00000378496.4_Missense_Mutation_p.K83N|UNC13B_ENST00000396787.1_Missense_Mutation_p.K83N	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	83					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTGCGCTGAAGACTATTCGTC	0.493													False	0	False	9:35236562	0	C	35236562	G	C	35236562	3	2	51	1	0	0	0	0	1	0	0	0	17069	933	33	5	263	5	UNC13B	9	35236562	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08		35236562	105976869	27	4114											
GAD2	2572	broad.mit.edu	37	chr10	26575376	26575376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacaaggccttacagtgcGgacgccacgttgatgttttt	12	9	0	2			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:26575376G>A	ENST00000376261.3	+	13	1842	c.1339G>A	c.(1339-1341)Gga>Aga	p.G447R	GAD2_ENST00000259271.3_Missense_Mutation_p.G447R	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	447					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.G447R(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTTACAGTGCGGACGCCACGT	0.433													False	0	False	10:26575376	0	A	26575376	G	A	26575376	3	1	51	1	0	0	0	0	1	0	0	0	6222	1117	39	1	1389	1	GAD2	10	26575376	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08		26575376	108959371	28	4115											
MAT1A	4143	broad.mit.edu	37	chr10	82036258	82036258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcgcatctcctccagCgtgatgtcttcgttgtgctg	11	14	2	1			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:82036258C>T	ENST00000372213.3	-	6	902	c.642G>A	c.(640-642)acG>acA	p.T214T		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	214					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCTCCTCCAGCGTGATGTCTT	0.587													False	0	False	10:82036258	0	T	82036258	C	T	82036258	2	4	51	1	0	0	0	0	0	0	0	1	9396	755	27	1		1	MAT1A	10	82036258	Silent	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	55460882	82036258	53498489	29	4116											
EBF3	253738	broad.mit.edu	37	chr10	131665458	131665458	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agaactgcttggatttgtagGagagggtcacttcgacgacg	14	7	1	2			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:131665458G>C	ENST00000368648.3	-	10	1031	c.959C>G	c.(958-960)tCc>tGc	p.S320C	EBF3_ENST00000355311.5_Missense_Mutation_p.S329C	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	329	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGATTTGTAGGAGAGGGTCAC	0.577													False	0	False	10:131665458	0	C	131665458	G	C	131665458	3	2	51	1	0	0	0	0	1	0	0	0	4912	1174	41	5	724	5	EBF3	10	131665458	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08	49629200	131665458	3869289	30	4117											
PWWP2B	170394	broad.mit.edu	37	chr10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttcagccccccgagaccAcccgccccgagccacccccg	10	23	1	1			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756													False	0	True	10:134218293	0	C	134218293	A	C	134218293	3	2	51	1	0	0	0	0	1	0	0	0	12925	159	6	4	295	4	PWWP2B	10	134218293	Missense_Mutation	SNP	A	TCGA-H6-A45N-01A-11D-A26I-08	2552835	134218293	1316454	31	4118											
PPFIBP2	8495	broad.mit.edu	37	chr11	7618802	7618802	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggaacaggtgagtgtcctCacagaccaagtagaagccca	11	11	1	3			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:7618802C>T	ENST00000299492.4	+	5	772	c.384C>T	c.(382-384)ctC>ctT	p.L128L	PPFIBP2_ENST00000528883.1_Silent_p.L16L|PPFIBP2_ENST00000533792.1_5'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	128				L -> I (in Ref. 2; AAH21714).	cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGAGTGTCCTCACAGACCAAG	0.512													False	0	False	11:7618802	0	T	7618802	C	T	7618802	2	4	51	1	0	0	0	0	0	0	0	1	12383	813	29	2		2	PPFIBP2	11	7618802	Silent	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08		7618802	127387714	32	4119											
ATL3	25923	broad.mit.edu	37	chr11	63398868	63398868	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggtcttcttaaaatggtccaGagcaagttgtttgaattcac	9	7	3	2			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:63398868G>C	ENST00000398868.3	-	12	1459	c.1183C>G	c.(1183-1185)Ctg>Gtg	p.L395V	ATL3_ENST00000538786.1_Missense_Mutation_p.L377V|ATL3_ENST00000332645.4_Missense_Mutation_p.L422V	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	395					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AAATGGTCCAGAGCAAGTTGT	0.408													False	0	False	11:63398868	0	C	63398868	G	C	63398868	3	2	51	1	0	0	0	0	1	0	0	0	1112	933	33	5	450	5	ATL3	11	63398868	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08	55780066	63398868	71607648	33	4120											
TRPC6	7225	broad.mit.edu	37	chr11	101362330	101362330	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caagttttaaacggctgagaTttgggcgaccgtgatcacca	11	9	1	2			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:101362330T>A	ENST00000344327.3	-	3	1509	c.1085A>T	c.(1084-1086)aAt>aTt	p.N362I	TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.N362I|TRPC6_ENST00000360497.4_Missense_Mutation_p.N362I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	362					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACGGCTGAGATTTGGGCGACC	0.428													False	0	True	11:101362330	0	A	101362330	T	A	101362330	3	1	51	1	0	0	0	0	1	0	0	0	16666	1493	52	5	1754	5	TRPC6	11	101362330	Missense_Mutation	SNP	T	TCGA-H6-A45N-01A-11D-A26I-08	37963462	101362330	33644186	34	4121											
TRPC6	7225	broad.mit.edu	37	chr11	101362468	101362468	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgacagttttttgtagtcaTtctaggaaaaacaaagcaaa	7	5	2	1			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:101362468T>A	ENST00000344327.3	-	3	1371	c.947A>T	c.(946-948)aAt>aTt	p.N316I	TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Splice_Site_p.N316I|TRPC6_ENST00000360497.4_Splice_Site_p.N316I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	316					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTTGTAGTCATTCTAGGAAAA	0.368													False	0	False	11:101362468	0	A	101362468	T	A	101362468	5	1	51	1	0	0	0	0	0	0	1	0	16666	1507	52	5	1892	5	TRPC6	11	101362468	Splice_Site	SNP	T	TCGA-H6-A45N-01A-11D-A26I-08	138	101362468	33644048	35	4122											
MMP1	4312	broad.mit.edu	37	chr11	102668153	102668153	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcatttgcttcaatttttCaaccactgggccactatttc	5	12	2	0			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:102668153C>T	ENST00000315274.6	-	2	251	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	62					blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TTCAATTTTTCAACCACTGGG	0.433													False	0	True	11:102668153	0	T	102668153	C	T	102668153	3	4	51	1	0	0	0	0	1	0	0	0	9715	835	29	2	1261	2	MMP1	11	102668153	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	1305685	102668153	32338363	36	4123											
DCPS	28960	broad.mit.edu	37	chr11	126174162	126174162	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgggacaaaatcattTtcctacacgggaaggtacca	10	11	1	0			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:126174162T>A	ENST00000263579.4	+	1	516	c.187T>A	c.(187-189)Ttc>Atc	p.F63I	RP11-712L6.5_ENST00000524964.1_5'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	63					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CAAAATCATTTTCCTACACGG	0.547													False	0	True	11:126174162	0	A	126174162	T	A	126174162	3	1	51	1	0	0	0	0	1	0	0	0	4326	1841	64	5	189	5	DCPS	11	126174162	Missense_Mutation	SNP	T	TCGA-H6-A45N-01A-11D-A26I-08	23506009	126174162	8832354	37	4124											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	51	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08		25398284	108453611	38	4125											
OASL	8638	broad.mit.edu	37	chr12	121471375	121471375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctccatcctcaggtcctCgagcccgaggtccagcaggt	11	16	1	0			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:121471375C>T	ENST00000257570.5	-	2	640	c.370G>A	c.(370-372)Gag>Aag	p.E124K	OASL_ENST00000339275.5_Missense_Mutation_p.E124K	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	124					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCAGGTCCTCGAGCCCGAGG	0.577													False	0	False	12:121471375	0	T	121471375	C	T	121471375	3	4	51	1	0	0	0	0	1	0	0	0	10870	893	31	1	1194	1	OASL	12	121471375	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	96073091	121471375	12380520	39	4126											
TRPC4	7223	broad.mit.edu	37	chr13	38320594	38320594	+	Splice_Site	DEL	T	T	-													caaggagtataggaggcaccTaaaaaaaaaaaaggcagagg					rs80164537		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr13:38320594delT	ENST00000379705.3	-	3	1236		c.e3-2		TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Splice_Site|TRPC4_ENST00000426868.2_Splice_Site|TRPC4_ENST00000447043.1_Splice_Site|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Splice_Site|TRPC4_ENST00000379673.2_Splice_Site|TRPC4_ENST00000379681.3_Splice_Site			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4						axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGGAGGCACCTAAAAAAAAAA	0.338													False	1	True	13:38320594	0	-	38320594	T	-	38320594	8	5	51	1	0	1	0	1	0	0	1	0	16663	1536	53	0	2607	0	TRPC4	13	38320594	Splice_Site	DEL	T	TCGA-H6-A45N-01A-11D-A26I-08		38320594	76849284	40	4127											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32928116	32928116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaaagttaccaaagaaaGgtacatttacatactactgt	6	6	0	2			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr15:32928116G>A	ENST00000567348.1	+	11	2156	c.1483G>A	c.(1483-1485)Ggt>Agt	p.G495S	ARHGAP11A_ENST00000543522.1_Splice_Site_p.G306S|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.G467S|ARHGAP11A_ENST00000565905.1_Splice_Site_p.G306S|ARHGAP11A_ENST00000361627.3_Splice_Site_p.G495S	NM_199357.1	NP_955389.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	495					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.G495C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ACCAAAGAAAGGTACATTTAC	0.294													False	0	True	15:32928116	0	A	32928116	G	A	32928116	3	1	51	1	0	0	0	0	1	0	0	0	865	1014	35	2	1525	2	ARHGAP11A	15	32928116	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08		32928116	69603276	41	4128											
VAC14	55697	broad.mit.edu	37	chr16	70814758	70814758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgcctgcctctgcccaGgtctcagctcatccagctcg	9	18	4	0			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:70814758G>A	ENST00000261776.5	-	9	1291	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	344					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCTCTGCCCAGGTCTCAGCTC	0.612													False	0	False	16:70814758	0	A	70814758	G	A	70814758	3	1	51	1	0	0	0	0	1	0	0	0	17195	1000	35	2	1361	2	VAC14	16	70814758	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08		70814758	19539995	42	4129											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	9	16	3	0	rs28934574		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:7577094G>C	ENST00000420246.2	-	8	976	c.844C>G	c.(844-846)Cgg>Ggg	p.R282G	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R282G|TP53_ENST00000359597.4_Missense_Mutation_p.R282G|TP53_ENST00000455263.2_Missense_Mutation_p.R282G|TP53_ENST00000445888.2_Missense_Mutation_p.R282G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			False	0	False	17:7577094	0	C	7577094	G	C	7577094	3	2	51	1	0	0	0	0	1	0	0	0	16464	1115	39	5	442	5	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08		7577094	73618116	43	4130											
CACNG5	27091	broad.mit.edu	37	chr17	64881142	64881142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgtttatgaagcggtacAccgcggaggacatgtacagg	13	9	0	1			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:64881142A>G	ENST00000533854.1	+	6	850	c.613A>G	c.(613-615)Acc>Gcc	p.T205A	CACNG5_ENST00000307139.3_Missense_Mutation_p.T205A			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	205				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GAAGCGGTACACCGCGGAGGA	0.607													False	0	False	17:64881142	0	G	64881142	A	G	64881142	3	3	51	1	0	0	0	0	1	0	0	0	2580	159	6	4	948	4	CACNG5	17	64881142	Missense_Mutation	SNP	A	TCGA-H6-A45N-01A-11D-A26I-08	57304048	64881142	16314068	44	4131											
RANBP3	8498	broad.mit.edu	37	chr19	5931417	5931417	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctcaggacccactgacctCaagtgcacacacctcatcgg	8	17	3	1			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:5931417C>T	ENST00000340578.6	-	8	748	c.691G>A	c.(691-693)Gag>Aag	p.E231K	RANBP3_ENST00000034275.8_Missense_Mutation_p.E163K|RANBP3_ENST00000541471.1_Missense_Mutation_p.E103K|RANBP3_ENST00000591092.1_Intron|RANBP3_ENST00000439268.2_Intron	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	231					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CCACTGACCTCAAGTGCACAC	0.647													False	0	False	19:5931417	0	T	5931417	C	T	5931417	3	4	51	1	0	0	0	0	1	0	0	0	13108	835	29	2	1052	2	RANBP3	19	5931417	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08		5931417	53197566	45	4132											
ADAMTS10	81794	broad.mit.edu	37	chr19	8660766	8660766	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtctggggggccggttgttCaggcagagccccaggcccga	17	12	2	1			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:8660766C>G	ENST00000270328.4	-	11	1625	c.1359G>C	c.(1357-1359)ctG>ctC	p.L453L	ADAMTS10_ENST00000597188.1_Silent_p.L453L			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	453	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCCGGTTGTTCAGGCAGAGCC	0.592													False	0	False	19:8660766	0	G	8660766	C	G	8660766	2	3	51	1	0	0	0	0	0	0	0	1	256	813	29	5		5	ADAMTS10	19	8660766	Silent	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	2729349	8660766	50468217	46	4133											
PRKACA	5566	broad.mit.edu	37	chr19	14208284	14208284	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcccaccagtccacggcCttgttgtagccctggagcaa	12	14	0	0			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:14208284C>T	ENST00000308677.4	-	8	850	c.654G>A	c.(652-654)aaG>aaA	p.K218K	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.K210K	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	218	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						AGTCCACGGCCTTGTTGTAGC	0.637													False	0	False	19:14208284	0	T	14208284	C	T	14208284	2	4	51	1	0	0	0	0	0	0	0	1	12573	680	24	2		2	PRKACA	19	14208284	Silent	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	5547518	14208284	44920699	47	4134											
BCKDHA	593	broad.mit.edu	37	chr19	41928149	41928149	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcggcgagggggcagccagtGagggggacgcccatgccggc	20	12	0	1			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:41928149G>A	ENST00000269980.2	+	6	1095	c.727G>A	c.(727-729)Gag>Aag	p.E243K	BCKDHA_ENST00000595085.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000457836.2_Missense_Mutation_p.E221K|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.E277K	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	243					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGCAGCCAGTGAGGGGGACGC	0.642													False	0	False	19:41928149	0	A	41928149	G	A	41928149	3	1	51	1	0	0	0	0	1	0	0	0	1363	1291	45	2	749	2	BCKDHA	19	41928149	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08	27719865	41928149	17200834	48	4135											
ZNF224	7767	broad.mit.edu	37	chr19	44612263	44612263	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagttcacagtgtagaaaaGccatacaaatgtgaggactg	10	6	1	2			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:44612263G>C	ENST00000336976.6	+	6	2204	c.1950G>C	c.(1948-1950)aaG>aaC	p.K650N	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	650					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GTGTAGAAAAGCCATACAAAT	0.448													False	0	True	19:44612263	0	C	44612263	G	C	44612263	3	2	51	1	0	0	0	0	1	0	0	0	17861	962	34	5	1964	5	ZNF224	19	44612263	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08	2684114	44612263	14516720	49	4136											
PPP1R12C	54776	broad.mit.edu	37	chr19	55607482	55607482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccccagccccaccaggccGgcgctccttggacaagtcct	9	21	0	0			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:55607482G>A	ENST00000263433.3	-	8	1105	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R290W|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R364W	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	364						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCACCAGGCCGGCGCTCCTTG	0.652													False	0	False	19:55607482	0	A	55607482	G	A	55607482	3	1	51	1	0	0	0	0	1	0	0	0	12430	1115	39	1	1318	1	PPP1R12C	19	55607482	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08	10995219	55607482	3521501	50	4137											
ZBTB45	84878	broad.mit.edu	37	chr19	59028970	59028970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccccaagcctctgcccaTtgagggtctcaagcagagag	11	14	2	2			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:59028970T>C	ENST00000594051.1	-	2	551	c.71A>G	c.(70-72)aAt>aGt	p.N24S	ZBTB45_ENST00000354590.3_Missense_Mutation_p.N24S|ZBTB45_ENST00000600990.1_Missense_Mutation_p.N24S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCTCTGCCCATTGAGGGTCTC	0.612											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:59028970	0	C	59028970	T	C	59028970	3	2	51	1	0	0	0	0	1	0	0	0	17629	1493	52	4	1472	4	ZBTB45	19	59028970	Missense_Mutation	SNP	T	TCGA-H6-A45N-01A-11D-A26I-08	3421488	59028970	100013	51	4138											
CEP250	11190	broad.mit.edu	37	chr20	34090746	34090746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagagagctcgagaaggatCgggagactcagaggaacgtc	15	8	2	4			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:34090746C>T	ENST00000397527.1	+	30	5269	c.4549C>T	c.(4549-4551)Cgg>Tgg	p.R1517W	CEP250_ENST00000342580.4_Missense_Mutation_p.R1461W	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1517	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGAGAAGGATCGGGAGACTCA	0.512													False	0	True	20:34090746	0	T	34090746	C	T	34090746	3	4	51	1	0	0	0	0	1	0	0	0	3275	875	31	1	4655	1	CEP250	20	34090746	Missense_Mutation	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08		34090746	28934774	52	4139											
CDH22	64405	broad.mit.edu	37	chr20	44856262	44856262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcacctgcatcaccgaCgtgcctgggcccgggggacc	13	17	2	0	rs148516074		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:44856262C>T	ENST00000372262.3	-	3	955	c.555G>A	c.(553-555)acG>acA	p.T185T	CDH22_ENST00000537909.1_Silent_p.T185T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	185	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCATCACCGACGTGCCTGGGC	0.682													False	0	False	20:44856262	0	T	44856262	C	T	44856262	2	4	51	1	0	0	0	0	0	0	0	1	3130	523	19	1		1	CDH22	20	44856262	Silent	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	10765516	44856262	18169258	53	4140											
CASS4	57091	broad.mit.edu	37	chr20	55033728	55033728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacgtaccccagccctgcCgcgctggggcacctccaggc	11	20	1	0	rs112583744		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:55033728C>T	ENST00000371336.3	+	6	2487	c.2286C>T	c.(2284-2286)gcC>gcT	p.A762A	CASS4_ENST00000434344.1_Silent_p.A325A|CASS4_ENST00000360314.3_Silent_p.A762A	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	762					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCAGCCCTGCCGCGCTGGGGC	0.637													False	0	False	20:55033728	0	T	55033728	C	T	55033728	2	4	51	1	0	0	0	0	0	0	0	1	2703	639	23	1		1	CASS4	20	55033728	Silent	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08	10177466	55033728	7991792	54	4141											
SAMSN1	64092	broad.mit.edu	37	chr21	15858390	15858390	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acttatttaaggagatgtctGagctcaaggataggggctca	12	6	3	2			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr21:15858390G>C	ENST00000285670.2	-	9	1343	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*	SAMSN1_ENST00000400564.1_Nonsense_Mutation_p.S154*|SAMSN1_ENST00000400566.1_Nonsense_Mutation_p.S322*	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	322					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGAGATGTCTGAGCTCAAGGA	0.403													False	0	False	21:15858390	0	C	15858390	G	C	15858390	4	2	51	1	0	0	0	0	0	1	0	0	13909	1294	45	5	160	5	SAMSN1	21	15858390	Nonsense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08		15858390	32271505	55	4142											
CACNA1I	8911	broad.mit.edu	37	chr22	40061961	40061961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgctcggactgcatggccGccaactaccgctgggtccat	11	16	0	0			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr22:40061961G>A	ENST00000336649.4	+	26	4072	c.4072G>A	c.(4072-4074)Gcc>Acc	p.A1358T	CACNA1I_ENST00000401624.1_Missense_Mutation_p.A1352T|CACNA1I_ENST00000400164.3_Missense_Mutation_p.A1317T|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A1317T|CACNA1I_ENST00000402142.3_Missense_Mutation_p.A1352T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A1317T			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1352					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTGCATGGCCGCCAACTACCG	0.597													False	0	False	22:40061961	0	A	40061961	G	A	40061961	3	1	51	1	0	0	0	0	1	0	0	0	2566	1087	38	1	4144	1	CACNA1I	22	40061961	Missense_Mutation	SNP	G	TCGA-H6-A45N-01A-11D-A26I-08		40061961	11242605	56	4143											
SMARCA1	6594	broad.mit.edu	37	chrX	128599617	128599617	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attttgtgtaacatacaaatCaagaatctatcttcttcctc	3	9	4	1			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:128599617C>T	ENST00000371122.4	-	23	3039	c.2910G>A	c.(2908-2910)ttG>ttA	p.L970L	SMARCA1_ENST00000371121.3_Silent_p.L958L|SMARCA1_ENST00000371123.1_Silent_p.L958L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	970	SANT 2.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACATACAAATCAAGAATCTAT	0.363													False	0	False	X:128599617	0	T	128599617	C	T	128599617	2	4	51	1	0	0	0	0	0	0	0	1	14848	825	29	2		2	SMARCA1	23	128599617	Silent	SNP	C	TCGA-H6-A45N-01A-11D-A26I-08		128599617	26670943	57	4144											
GPR112	139378	broad.mit.edu	37	chrX	135429571	135429571	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcacatttcttcatctgccAcatatcgtgtacacacacca	4	14	4	0			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:135429571A>G	ENST00000394143.1	+	6	3997	c.3706A>G	c.(3706-3708)Aca>Gca	p.T1236A	GPR112_ENST00000287534.4_Missense_Mutation_p.T1173A|GPR112_ENST00000394141.1_Missense_Mutation_p.T1031A|GPR112_ENST00000370652.1_Missense_Mutation_p.T1236A|GPR112_ENST00000412101.1_Missense_Mutation_p.T1031A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1236					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCATCTGCCACATATCGTGT	0.473													False	0	False	X:135429571	0	G	135429571	A	G	135429571	3	3	51	1	0	0	0	0	1	0	0	0	6675	159	6	4	3716	4	GPR112	23	135429571	Missense_Mutation	SNP	A	TCGA-H6-A45N-01A-11D-A26I-08	6829954	135429571	19840989	58	4145											
UBR4	23352	broad.mit.edu	37	chr1	19477078	19477078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcactggtacctctccaGgacagttccactggtcgtag	10	14	1	0			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:19477078G>A	ENST00000375267.2	-	49	7426	c.7423C>T	c.(7423-7425)Ctg>Ttg	p.L2475L	UBR4_ENST00000375254.3_Silent_p.L2475L|UBR4_ENST00000375226.2_Silent_p.L2475L|UBR4_ENST00000375217.2_Silent_p.L2475L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2475					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TACCTCTCCAGGACAGTTCCA	0.522													False	0	False	1:19477078	0	A	19477078	G	A	19477078	2	1	52	1	0	0	0	0	0	0	0	1	16988	991	35	2		2	UBR4	1	19477078	Silent	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08		19477078	229773543	1	4146											
KIAA0754	643314	broad.mit.edu	37	chr1	39878506	39878506	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgcccagcccagaggagGgtacctcaattgctgcagtg	12	13	1	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:39878506G>T	ENST00000530275.1	+	1	2356	c.2161G>T	c.(2161-2163)Ggt>Tgt	p.G721C	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	721										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCAGAGGAGGGTACCTCAAT	0.542													False	0	True	1:39878506	0	T	39878506	G	T	39878506	3	4	52	1	0	0	0	0	1	0	0	0	8242	1232	43	3	2571	3	KIAA0754	1	39878506	Missense_Mutation	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08	20401428	39878506	209372115	2	4147											
OR2M3	127062	broad.mit.edu	37	chr1	248366501	248366501	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccttcatgggaaactctgtCatggttctcctcatctacct	7	13	6	0			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:248366501C>T	ENST00000456743.1	+	1	170	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			GAAACTCTGTCATGGTTCTCC	0.547													False	0	False	1:248366501	0	T	248366501	C	T	248366501	2	4	52	1	0	0	0	0	0	0	0	1	11079	813	29	2		2	OR2M3	1	248366501	Silent	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08	208487995	248366501	884120	3	4148											
OR2T4	127074	broad.mit.edu	37	chr1	248525639	248525639	+	Frame_Shift_Del	DEL	A	A	-													tttcaagctcctatttactcAtcctcctcaccatccacggg					rs34079073		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:248525639delA	ENST00000366475.1	+	1	757	c.757delA	c.(757-759)atcfs	p.I253fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTATTTACTCATCCTCCTCAC	0.522													False	1	False	1:248525639	0	-	248525639	A	-	248525639	7	5	52	1	0	1	0	1	0	0	0	0	11095	217	8	0	759	0	OR2T4	1	248525639	Frame_Shift_Del	DEL	A	TCGA-HV-A5A3-01A-11D-A26I-08	159138	248525639	724982	4	4149											
PSME4	23198	broad.mit.edu	37	chr2	54133986	54133986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatcaacagtgctctgataTgttgttttttcccatggagc	8	9	2	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:54133986T>C	ENST00000404125.1	-	25	2859	c.2804A>G	c.(2803-2805)cAt>cGt	p.H935R	PSME4_ENST00000421748.2_Missense_Mutation_p.H79R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	935					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGCTCTGATATGTTGTTTTTT	0.323													False	0	False	2:54133986	0	C	54133986	T	C	54133986	3	2	52	1	0	0	0	0	1	0	0	0	12785	1464	51	4	2815	4	PSME4	2	54133986	Missense_Mutation	SNP	T	TCGA-HV-A5A3-01A-11D-A26I-08		54133986	189065387	5	4150											
ATP5G3	518	broad.mit.edu	37	chr2	176044902	176044902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgcaactctggatccagctCggatctattaatgaaaaaaa	7	8	2	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:176044902C>A	ENST00000284727.4	-	3	3068	c.44G>T	c.(43-45)cGa>cTa	p.R15L	ATP5G3_ENST00000392541.3_Missense_Mutation_p.R15L|ATP5G3_ENST00000409194.1_Missense_Mutation_p.R15L	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	15					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GGATCCAGCTCGGATCTATTA	0.343													False	0	False	2:176044902	0	A	176044902	C	A	176044902	3	1	52	1	0	0	0	0	1	0	0	0	1159	884	31	3	400	3	ATP5G3	2	176044902	Missense_Mutation	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08	121910916	176044902	67154471	6	4151											
CPO	130749	broad.mit.edu	37	chr2	207827279	207827279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaccatgcactcttatgggCagttaattctcacaccttac	6	12	2	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:207827279C>A	ENST00000272852.3	+	7	764	c.718C>A	c.(718-720)Cag>Aag	p.Q240K		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	240					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTCTTATGGGCAGTTAATTCT	0.458													False	0	True	2:207827279	0	A	207827279	C	A	207827279	3	1	52	1	0	0	0	0	1	0	0	0	3843	711	25	3	744	3	CPO	2	207827279	Missense_Mutation	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08	31782377	207827279	35372094	7	4152											
HACL1	26061	broad.mit.edu	37	chr3	15613278	15613279	+	Splice_Site	INS	-	-	G													atcaagttcctctaaaagctINStaaaaaaaaaaaaacacaca					rs56298314	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:15613278_15613279insG	ENST00000451445.2	-	9	871		c.e9-2		HACL1_ENST00000435217.2_Splice_Site|HACL1_ENST00000321169.5_Splice_Site|HACL1_ENST00000456194.2_Splice_Site|HACL1_ENST00000457447.2_Intron			Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1						fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTCTAAAAGCTTAAAAAAAAAA	0.322													False	0	True	3:15613278	0	G	15613279	-	G	15613278	8	5	52	1	0	1	1	0	0	0	1	0	6988	1623	56	0	768	0	HACL1	3	15613278	Splice_Site	INS	-	TCGA-HV-A5A3-01A-11D-A26I-08		15613278	182409152	8	4153											
ALDH1L1	10840	broad.mit.edu	37	chr3	125876347	125876347	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttcttatctccgtgaatgaGggtcctaggaagcagaagag	12	7	2	4			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:125876347G>C	ENST00000393434.2	-	4	716	c.367C>G	c.(367-369)Ctc>Gtc	p.L123V	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L133V|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L123V|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L123V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	123	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGTGAATGAGGGTCCTAGGA	0.597													False	0	True	3:125876347	0	C	125876347	G	C	125876347	3	2	52	1	0	0	0	0	1	0	0	0	494	1000	35	5	2421	5	ALDH1L1	3	125876347	Missense_Mutation	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08	110263069	125876347	72146083	9	4154											
CPB1	1360	broad.mit.edu	37	chr3	148563350	148563350	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatctgacaatccactcgtaCtcccaaatgatgatctaccc	4	14	2	3			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:148563350C>A	ENST00000491148.1	+	10	1252	c.918C>A	c.(916-918)taC>taA	p.Y306*	CPB1_ENST00000282957.4_Nonsense_Mutation_p.Y306*			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	306					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCCACTCGTACTCCCAAATGA	0.443													False	0	False	3:148563350	0	A	148563350	C	A	148563350	4	1	52	1	0	0	0	0	0	1	0	0	3819	576	20	3	952	3	CPB1	3	148563350	Nonsense_Mutation	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08	22687003	148563350	49459080	10	4155											
IGF2BP2	10644	broad.mit.edu	37	chr3	185364845	185364845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgcccgataattctgaCgatcacttcctcattttcat	6	11	4	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:185364845C>T	ENST00000382199.2	-	15	1770	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.V565I|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.V502I|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.V516I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	559	KH 4.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATAATTCTGACGATCACTTCC	0.507													False	0	False	3:185364845	0	T	185364845	C	T	185364845	3	4	52	1	0	0	0	0	1	0	0	0	7624	536	19	1	132	1	IGF2BP2	3	185364845	Missense_Mutation	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08	36801495	185364845	12657585	11	4156											
DRD5	0	broad.mit.edu	37	chr4	9784049	9784050	+	Frame_Shift_Ins	INS	-	-	GTCAGCAG													cctccatcctgaacctgtgcINSgtcatcagcgtggaccgcta							TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr4:9784049_9784050insGTCAGCAG	ENST00000304374.2	+	1	792_793	c.396_397insGTCAGCAG	c.(397-399)gtcfs	p.-133fs		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5						activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGAACCTGTGCGTCATCAGCGT	0.624													False	0	False	4:9784049	0	GTCAGCAG	9784050	-	GTCAGCAG	9784049	7	5	52	1	0	1	1	0	0	0	0	0	4790	776	27	0	398	0	DRD5	4	9784049	Frame_Shift_Ins	INS	-	TCGA-HV-A5A3-01A-11D-A26I-08		9784049	181370227	12	4157											
ADAMTS12	81792	broad.mit.edu	37	chr5	33577113	33577113	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccattggaaatagtgcctttGtttggtttcagaactctccg	9	9	2	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:33577113G>C	ENST00000504830.1	-	19	3353	c.3018C>G	c.(3016-3018)aaC>aaG	p.N1006K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N921K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1006	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTGCCTTTGTTTGGTTTCA	0.527										HNSCC(64;0.19)			False	0	True	5:33577113	0	C	33577113	G	C	33577113	3	2	52	1	0	0	0	0	1	0	0	0	257	1368	48	5	1790	5	ADAMTS12	5	33577113	Missense_Mutation	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08		33577113	147338147	13	4158											
MAST4	375449	broad.mit.edu	37	chr5	66462696	66462696	+	Missense_Mutation	SNP	G	G	T													gtaggggaaaccaaagggaaGgaccctgccccagcccagcc							TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:66462696G>T	ENST00000404260.3	+	29	8006	c.7698G>T	c.(7696-7698)aaG>aaT	p.K2566N	MAST4_ENST00000405643.1_Missense_Mutation_p.K2384N|MAST4_ENST00000403666.1_Missense_Mutation_p.K2374N|MAST4_ENST00000261569.7_Missense_Mutation_p.K2369N|MAST4_ENST00000403625.2_Missense_Mutation_p.K2563N			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2566						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAAAGGGAAGGACCCTGCCC	0.652													False	0	False	5:66462696	0	T	66462696	G	T	66462696	3	4	52	1	0	0	0	0	1	0	0	0	9394	991	35	3	7933	3	MAST4	5	66462696	Missense_Mutation	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08	32885583	66462696	114452564	14	4159	38	2									
MAST4	375449	broad.mit.edu	37	chr5	66462697	66462697	+	Missense_Mutation	SNP	G	G	T													taggggaaaccaaagggaagGaccctgccccagcccagcct							TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:66462697G>T	ENST00000404260.3	+	29	8007	c.7699G>T	c.(7699-7701)Gac>Tac	p.D2567Y	MAST4_ENST00000405643.1_Missense_Mutation_p.D2385Y|MAST4_ENST00000403666.1_Missense_Mutation_p.D2375Y|MAST4_ENST00000261569.7_Missense_Mutation_p.D2370Y|MAST4_ENST00000403625.2_Missense_Mutation_p.D2564Y			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2567						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAAAGGGAAGGACCCTGCCCC	0.647													False	0	False	5:66462697	0	T	66462697	G	T	66462697	3	4	52	1	0	0	0	0	1	0	0	0	9394	1174	41	3	7934	3	MAST4	5	66462697	Missense_Mutation	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08	1	66462697	114452563	15	4160	38	2									
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	52	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-HV-A5A3-01A-11D-A26I-08	12147747	78610444	102304816	16	4161											
PCDHB14	0	broad.mit.edu	37	chr5	140604697	140604697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaccgcgggtccccggcGttgagcagcgaggcgctggt	17	13	0	2	rs147849897	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:140604697G>A	ENST00000239449.4	+	1	1620	c.1620G>A	c.(1618-1620)gcG>gcA	p.A540A	PCDHB14_ENST00000515856.2_Silent_p.A387A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		540	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A540A(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCCCCGGCGTTGAGCAGCG	0.682													False	0	False	5:140604697	0	A	140604697	G	A	140604697	2	1	52	1	0	0	0	0	0	0	0	1	11607	1132	40	1		1	PCDHB14	5	140604697	Silent	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08	61994253	140604697	40310563	17	4162											
FAT2	2196	broad.mit.edu	37	chr5	150945261	150945261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggttgatgctgaaggctgCgagtccagtgccagcacgca	14	10	0	2	rs142737825	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:150945261C>T	ENST00000261800.5	-	1	3244	c.3232G>A	c.(3232-3234)Gca>Aca	p.A1078T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1078	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGGCTGCGAGTCCAGTG	0.597													False	0	False	5:150945261	0	T	150945261	C	T	150945261	3	4	52	1	0	0	0	0	1	0	0	0	5730	768	27	1	9909	1	FAT2	5	150945261	Missense_Mutation	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08	10340564	150945261	29969999	18	4163											
HECW1	23072	broad.mit.edu	37	chr7	43484825	43484869	+	In_Frame_Del	DEL	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	-													cagcccctcgtgctacagctCctcgtgctacagcacgtcct							TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	-	-	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:43484825_43484869delCCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	ENST00000453890.1	+	10	2378_2422	c.2054_2098delCCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	c.(2053-2100)tcctcgtgctacagcacgtcctgctacagcagctcgtgctacagcgcc>tcc	p.SCYSTSCYSSSCYSA686del	HECW1_ENST00000395891.1_In_Frame_Del_p.SCYSTSCYSSSCYSA686del			Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	686	Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.S675L(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGCTACAGCTCCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCGCCTCGTGCTA	0.657													False	1	False	7:43484825	0	-	43484869	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	-	43484825	7	5	52	1	0	1	0	1	0	0	0	0	7089	855	30	0	2088	0	HECW1	7	43484825	In_Frame_Del	DEL	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	TCGA-HV-A5A3-01A-11D-A26I-08		43484825	115653838	19	4164											
PDAP1	11333	broad.mit.edu	37	chr7	98995523	98995523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccgggcagcctcctccCgctgtttccggatgatggcc	11	16	1	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:98995523C>T	ENST00000350498.3	-	5	729	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	PDAP1_ENST00000496335.1_5'UTR	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	150					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	AGCCTCCTCCCGCTGTTTCCG	0.602													False	0	True	7:98995523	0	T	98995523	C	T	98995523	3	4	52	1	0	0	0	0	1	0	0	0	11681	652	23	1	104	1	PDAP1	7	98995523	Missense_Mutation	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08	55510698	98995523	60143140	20	4165											
FAM180A	389558	broad.mit.edu	37	chr7	135418752	135418752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcccggctgtgaggagcGcatcaagtcgtgcctcaggg	14	12	2	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:135418752G>A	ENST00000338588.3	-	3	758	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	165						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TGTGAGGAGCGCATCAAGTCG	0.597													False	0	False	7:135418752	0	A	135418752	G	A	135418752	3	1	52	1	0	0	0	0	1	0	0	0	5543	1087	38	1	32	1	FAM180A	7	135418752	Missense_Mutation	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08	36423229	135418752	23719911	21	4166											
OR2A5	393046	broad.mit.edu	37	chr7	143747854	143747854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttggtaatgatgtcctaCgatcggtacatggctatctg	10	8	2	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:143747854C>T	ENST00000408906.2	+	1	394	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGATGTCCTACGATCGGTACA	0.468													False	0	False	7:143747854	0	T	143747854	C	T	143747854	2	4	52	1	0	0	0	0	0	0	0	1	11049	547	19	1		1	OR2A5	7	143747854	Silent	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08	8329102	143747854	15390809	22	4167											
ST8SIA6	338596	broad.mit.edu	37	chr10	17363216	17363216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctttagactcttcgagCgtgtagtatactttgaaaga	9	7	1	3			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:17363216C>T	ENST00000377602.4	-	8	932	c.858G>A	c.(856-858)acG>acA	p.T286T		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	286					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACTCTTCGAGCGTGTAGTATA	0.433													False	0	False	10:17363216	0	T	17363216	C	T	17363216	2	4	52	1	0	0	0	0	0	0	0	1	15318	755	27	1		1	ST8SIA6	10	17363216	Silent	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08		17363216	118171531	23	4168											
PCDH15	65217	broad.mit.edu	37	chr10	55826528	55826528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacttacttttacttgacCcacaaaggcattggcttctt	5	12	1	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:55826528C>A	ENST00000373965.2	-	19	2624	c.2230G>T	c.(2230-2232)Ggt>Tgt	p.G744C	PCDH15_ENST00000395433.1_Missense_Mutation_p.G715C|PCDH15_ENST00000414778.1_Missense_Mutation_p.G742C|PCDH15_ENST00000437009.1_Missense_Mutation_p.G666C|PCDH15_ENST00000395432.2_Missense_Mutation_p.G700C|PCDH15_ENST00000395445.1_Missense_Mutation_p.G744C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.G715C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G737C|PCDH15_ENST00000373955.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G348C|PCDH15_ENST00000361849.3_Missense_Mutation_p.G737C|PCDH15_ENST00000320301.6_Missense_Mutation_p.G737C|PCDH15_ENST00000395438.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	737	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G742S(2)|p.G737S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTACTTGACCCACAAAGGCA	0.328										HNSCC(58;0.16)			False	0	True	10:55826528	0	A	55826528	C	A	55826528	3	1	52	1	0	0	0	0	1	0	0	0	11579	623	22	3	5341	3	PCDH15	10	55826528	Missense_Mutation	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08	38463312	55826528	79708219	24	4169											
ABLIM1	3983	broad.mit.edu	37	chr10	116444085	116444085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgatgagggtccgtgaGctcagtcatttccaaggtca	14	8	3	3			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:116444085G>A	ENST00000533213.2	-	1	329	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	ABLIM1_ENST00000369252.4_Missense_Mutation_p.L10F			O14639	ABLM1_HUMAN	actin binding LIM protein 1	0					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGGTCCGTGAGCTCAGTCATT	0.463													False	0	False	10:116444085	0	A	116444085	G	A	116444085	3	1	52	1	0	0	0	0	1	0	0	0	94	971	34	2	2552	2	ABLIM1	10	116444085	Missense_Mutation	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08	60617557	116444085	19090662	25	4170											
MUC2	4583	broad.mit.edu	37	chr11	1077612	1077612	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgccagggtcagcaccccgcActacagccccgggctgctca	11	19	2	0			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:1077612A>T	ENST00000441003.2	+	3	389	c.362A>T	c.(361-363)cAc>cTc	p.H121L	MUC2_ENST00000359061.5_Missense_Mutation_p.H121L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	121	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCACCCCGCACTACAGCCCC	0.682													False	0	False	11:1077612	0	T	1077612	A	T	1077612	3	4	52	1	0	0	0	0	1	0	0	0	10042	159	6	5	372	5	MUC2	11	1077612	Missense_Mutation	SNP	A	TCGA-HV-A5A3-01A-11D-A26I-08		1077612	133928904	26	4171											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	52	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08		25398284	108453611	27	4172											
ENOX1	55068	broad.mit.edu	37	chr13	43934128	43934128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcagtagcattttctgGtaatcctccgacaaacacgg	7	12	2	0			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr13:43934128G>A	ENST00000261488.6	-	7	1025	c.448C>T	c.(448-450)Cca>Tca	p.P150S	ENOX1_ENST00000540032.1_5'UTR|ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.P150S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	150	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCATTTTCTGGTAATCCTCCG	0.388													False	0	False	13:43934128	0	A	43934128	G	A	43934128	3	1	52	1	0	0	0	0	1	0	0	0	5158	1261	44	2	1527	2	ENOX1	13	43934128	Missense_Mutation	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08		43934128	71235750	28	4173											
NEK9	91754	broad.mit.edu	37	chr14	75590766	75590766	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taccattacaatattccagcTcaatcagcagcgtggtattg	7	10	2	0			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:75590766T>G	ENST00000238616.5	-	2	538	c.380A>C	c.(379-381)gAg>gCg	p.E127A		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	127	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ATATTCCAGCTCAATCAGCAG	0.408													False	0	False	14:75590766	0	G	75590766	T	G	75590766	3	3	52	1	0	0	0	0	1	0	0	0	10399	1551	54	4	2643	4	NEK9	14	75590766	Missense_Mutation	SNP	T	TCGA-HV-A5A3-01A-11D-A26I-08		75590766	31758774	29	4174											
FLRT2	23768	broad.mit.edu	37	chr14	86087923	86087923	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagtcttggcttatcaTttccctggggctctactcac	8	13	4	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:86087923T>A	ENST00000330753.4	+	2	832	c.65T>A	c.(64-66)aTt>aAt	p.I22N	FLRT2_ENST00000554746.1_Missense_Mutation_p.I22N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	22					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGGCTTATCATTTCCCTGGGG	0.507													False	0	True	14:86087923	0	A	86087923	T	A	86087923	3	1	52	1	0	0	0	0	1	0	0	0	5979	1493	52	5	67	5	FLRT2	14	86087923	Missense_Mutation	SNP	T	TCGA-HV-A5A3-01A-11D-A26I-08	10497157	86087923	21261617	30	4175											
GABRB3	2562	broad.mit.edu	37	chr15	26825521	26825521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccacgatggagaactgCgggagctcaatcctttccac	10	13	1	1	rs146431931		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:26825521C>T	ENST00000541819.2	-	7	897	c.795G>A	c.(793-795)ccG>ccA	p.P265P	GABRB3_ENST00000299267.4_Silent_p.P209P|GABRB3_ENST00000545868.1_Silent_p.P124P|GABRB3_ENST00000400188.3_Silent_p.P138P|GABRB3_ENST00000311550.5_Silent_p.P209P			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	209					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGGAGAACTGCGGGAGCTCAA	0.562													False	0	True	15:26825521	0	T	26825521	C	T	26825521	2	4	52	1	0	0	0	0	0	0	0	1	6210	755	27	1		1	GABRB3	15	26825521	Silent	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08		26825521	75705871	31	4176											
CYP11A1	1583	broad.mit.edu	37	chr15	74636261	74636261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggtagatggcatcaatgAatcgctgggcctcggggttc	14	9	2	2			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:74636261A>G	ENST00000358632.4	-	4	919	c.224T>C	c.(223-225)tTc>tCc	p.F75S	CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Missense_Mutation_p.F233S|CYP11A1_ENST00000419019.2_Missense_Mutation_p.F75S	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	233					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GGCATCAATGAATCGCTGGGC	0.572													False	0	False	15:74636261	0	G	74636261	A	G	74636261	3	3	52	1	0	0	0	0	1	0	0	0	4169	246	9	4	891	4	CYP11A1	15	74636261	Missense_Mutation	SNP	A	TCGA-HV-A5A3-01A-11D-A26I-08	47810740	74636261	27895131	32	4177											
ZNF629	23361	broad.mit.edu	37	chr16	30793072	30793072	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgggtggcagctcctatgGagcaggagggctgcgacttc	16	11	0	0			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:30793072G>A	ENST00000262525.4	-	3	2784	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	859					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCTCCTATGGAGCAGGAGGG	0.572													False	0	False	16:30793072	0	A	30793072	G	A	30793072	2	1	52	1	0	0	0	0	0	0	0	1	18136	1161	41	2		2	ZNF629	16	30793072	Silent	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08		30793072	59561681	33	4178											
CDH8	1006	broad.mit.edu	37	chr16	61851519	61851519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcagcatcttcaaccaCgattttgactgtcgccgtgt	7	13	4	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:61851519C>T	ENST00000577390.1	-	7	2095	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	CDH8_ENST00000299345.6_Missense_Mutation_p.V381M|CDH8_ENST00000584337.1_Missense_Mutation_p.V381M|CDH8_ENST00000577730.1_Missense_Mutation_p.V381M	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	381	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTTCAACCACGATTTTGACT	0.483													False	0	False	16:61851519	0	T	61851519	C	T	61851519	3	4	52	1	0	0	0	0	1	0	0	0	3139	536	19	1	1282	1	CDH8	16	61851519	Missense_Mutation	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08	31058447	61851519	28503234	34	4179											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs121912651		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	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)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	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)			False	0	False	17:7577539	0	A	7577539	G	A	7577539	3	1	52	1	0	0	0	0	1	0	0	0	16464	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08		7577539	73617671	35	4180											
ZNF18	7566	broad.mit.edu	37	chr17	11881816	11881818	+	In_Frame_Del	DEL	GTT	GTT	-													attaggcaaatgctgacctaGttgtttctcagaaatccttt							TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	GTT	GTT	-	-	GTT	GTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:11881816_11881818delGTT	ENST00000322748.3	-	9	1710_1712	c.1106_1108delAAC	c.(1105-1110)caacta>cta	p.Q369del	ZNF18_ENST00000580613.1_Intron|ZNF18_ENST00000580306.1_In_Frame_Del_p.Q369del|ZNF18_ENST00000454073.3_In_Frame_Del_p.Q368del	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	369					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TGCTGACCTAGTTGTTTCTCAGA	0.502													False	2	False	17:11881816	0	-	11881818	GTT	-	11881816	7	5	52	1	0	1	0	1	0	0	0	0	17830	1020	36	0	545	0	ZNF18	17	11881816	In_Frame_Del	DEL	GTT	TCGA-HV-A5A3-01A-11D-A26I-08	4304277	11881816	69313394	36	4181											
EPB41L3	23136	broad.mit.edu	37	chr18	5398076	5398076	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaattctgttggttttcGcgcagactctaataaactga	8	7	2	3			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:5398076G>A	ENST00000341928.2	-	17	2756	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R806*|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R103*|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R637*|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R111*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	806	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTTGGTTTTCGCGCAGACTCT	0.453													False	0	False	18:5398076	0	A	5398076	G	A	5398076	4	1	52	1	0	0	0	0	0	1	0	0	5186	1095	38	1	871	1	EPB41L3	18	5398076	Nonsense_Mutation	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08		5398076	72679172	37	4182											
SMAD4	4089	broad.mit.edu	37	chr18	48603028	48603028	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctttgatttgcgtcagtgTcatcgacagatgcagcagca	11	9	3	2			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:48603028T>A	ENST00000342988.3	+	11	1867	c.1329T>A	c.(1327-1329)tgT>tgA	p.C443*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.C347*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.C443*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	443	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGCGTCAGTGTCATCGACAGA	0.453													False	0	False	18:48603028	0	A	48603028	T	A	48603028	4	1	52	1	0	0	0	0	0	1	0	0	14840	1673	58	5	1367	5	SMAD4	18	48603028	Nonsense_Mutation	SNP	T	TCGA-HV-A5A3-01A-11D-A26I-08	43204952	48603028	29474220	38	4183											
ZNF676	163223	broad.mit.edu	37	chr19	22362994	22362994	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgaaggctttgccacattCttcacatttgtagcgtttct	8	10	3	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:22362994C>A	ENST00000397121.2	-	3	1842	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.388													False	0	False	19:22362994	0	A	22362994	C	A	22362994	4	1	52	1	0	0	0	0	0	1	0	0	18166	922	32	3	245	3	ZNF676	19	22362994	Nonsense_Mutation	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08		22362994	36765989	39	4184											
SHANK1	50944	broad.mit.edu	37	chr19	51189519	51189519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcaaagaaacctttgggtCggtgtttgcccagggacgcg	15	9	0	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:51189519C>T	ENST00000293441.1	-	20	2570	c.2552G>A	c.(2551-2553)cGa>cAa	p.R851Q	SHANK1_ENST00000359082.3_Missense_Mutation_p.R842Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.R859Q|SHANK1_ENST00000391813.1_Missense_Mutation_p.R238Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	851					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTTTGGGTCGGTGTTTGCC	0.612													False	0	False	19:51189519	0	T	51189519	C	T	51189519	3	4	52	1	0	0	0	0	1	0	0	0	14345	884	31	1	3949	1	SHANK1	19	51189519	Missense_Mutation	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08	28826525	51189519	7939464	40	4185											
NLRP12	91662	broad.mit.edu	37	chr19	54327405	54327405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggacaggcgacagaggccGtccctgcctgcggttcgtag	16	12	0	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:54327405G>A	ENST00000324134.6	-	1	192	c.24C>T	c.(22-24)gaC>gaT	p.D8D	NLRP12_ENST00000391775.3_Silent_p.D8D|NLRP12_ENST00000535162.1_Silent_p.D8D|NLRP12_ENST00000345770.5_Silent_p.D8D|NLRP12_ENST00000391772.1_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D|NLRP12_ENST00000351894.4_Silent_p.D8D|NLRP12_ENST00000391773.1_Silent_p.D8D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	8	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.D8E(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GACAGAGGCCGTCCCTGCCTG	0.612													False	0	False	19:54327405	0	A	54327405	G	A	54327405	2	1	52	1	0	0	0	0	0	0	0	1	10542	1136	40	1		1	NLRP12	19	54327405	Silent	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08	3137886	54327405	4801578	41	4186											
PTPRH	5794	broad.mit.edu	37	chr19	55711614	55711614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttcctacctgtggagatGctgacattctgcctggagcc	13	11	1	2			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:55711614G>A	ENST00000376350.3	-	7	1432	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	PTPRH_ENST00000263434.5_Silent_p.S292S|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	470	Fibronectin type-III 5.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S470S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTGGAGATGCTGACATTCT	0.542													False	0	False	19:55711614	0	A	55711614	G	A	55711614	2	1	52	1	0	0	0	0	0	0	0	1	12882	1310	46	2		2	PTPRH	19	55711614	Silent	SNP	G	TCGA-HV-A5A3-01A-11D-A26I-08	1384209	55711614	3417369	42	4187											
COX4I2	84701	broad.mit.edu	37	chr20	30232606	30232606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatcaccttgacggacgagCggaaagcccagcagctgcag	13	13	1	1			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:30232606C>T	ENST00000376075.3	+	5	490	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	139					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GACGGACGAGCGGAAAGCCCA	0.582													False	0	False	20:30232606	0	T	30232606	C	T	30232606	3	4	52	1	0	0	0	0	1	0	0	0	3793	759	27	1	429	1	COX4I2	20	30232606	Missense_Mutation	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08		30232606	32792914	43	4188											
CTSA	5476	broad.mit.edu	37	chr20	44520255	44520255	+	Frame_Shift_Del	DEL	G	G	-													ttcctgctgctgctgctgctGctgctgctagtgtcctgggc							TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:44520255delG	ENST00000372484.3	+	2	384	c.102delG	c.(100-102)ctgfs	p.L37fs	CTSA_ENST00000372459.2_Frame_Shift_Del_p.L19fs|CTSA_ENST00000354880.5_Frame_Shift_Del_p.L37fs|CTSA_ENST00000191018.5_Frame_Shift_Del_p.L19fs	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	19					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				tgctgctgctgctgctgctAG	0.697													False	1	True	20:44520255	0	-	44520255	G	-	44520255	7	5	52	1	0	1	0	1	0	0	0	0	4054	1306	46	0	108	0	CTSA	20	44520255	Frame_Shift_Del	DEL	G	TCGA-HV-A5A3-01A-11D-A26I-08	14287649	44520255	18505265	44	4189	39	2									
CTSA	5476	broad.mit.edu	37	chr20	44520257	44520261	+	Frame_Shift_Del	DEL	TGCTG	TGCTG	-													cctgctgctgctgctgctgcTgctgctagtgtcctgggcgt					rs79061377	by1000genomes	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	TGCTG	TGCTG	-	-	TGCTG	TGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:44520257_44520261delTGCTG	ENST00000372484.3	+	2	386_390	c.104_108delTGCTG	c.(103-108)ctgctgfs	p.LL35fs	CTSA_ENST00000372459.2_Frame_Shift_Del_p.LL17fs|CTSA_ENST00000354880.5_Frame_Shift_Del_p.LL35fs|CTSA_ENST00000191018.5_Frame_Shift_Del_p.LL17fs	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	17					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	p.L36fs*121(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ctgctgctgctgctgctAGTGTCCT	0.698													False	1	True	20:44520257	0	-	44520261	TGCTG	-	44520257	7	5	52	1	0	1	0	1	0	0	0	0	4054	1580	55	0	110	0	CTSA	20	44520257	Frame_Shift_Del	DEL	TGCTG	TCGA-HV-A5A3-01A-11D-A26I-08	2	44520257	18505263	45	4190	39	2									
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057613	46057627	+	In_Frame_Del	DEL	CTGCTGTGTGCCTGT	CTGCTGTGTGCCTGT	-													tcctccccctgccagcaggcCtgctgtgtgcctgtctgctg					rs66931310	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	CTGCTGTGTGCCTGT	CTGCTGTGTGCCTGT	-	-	CTGCTGTGTGCCTGT	CTGCTGTGTGCCTGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr21:46057613_46057627delCTGCTGTGTGCCTGT	ENST00000380095.1	+	1	341_355	c.279_293delCTGCTGTGTGCCTGT	c.(277-294)gcctgctgtgtgcctgtc>gcc	p.CCVPV104del	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	104	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						gccagcaggcctgctgtgtgcctgtctgctgtgtg	0.628													False	1	True	21:46057613	0	-	46057627	CTGCTGTGTGCCTGT	-	46057613	7	5	52	1	0	1	0	1	0	0	0	0	8556	668	24	0	281	0	KRTAP10-10	21	46057613	In_Frame_Del	DEL	CTGCTGTGTGCCTGT	TCGA-HV-A5A3-01A-11D-A26I-08		46057613	2072282	46	4191											
PCNT	5116	broad.mit.edu	37	chr21	47855894	47855896	+	In_Frame_Del	DEL	GAA	GAA	-													acagtgagagacctggagtcGaaggacgaggtgcctggcag							TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr21:47855894_47855896delGAA	ENST00000359568.5	+	39	8936_8938	c.8829_8831delGAA	c.(8827-8832)tcgaag>tcg	p.K2944del	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2944					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCTGGAGTCGAAGGACGAGGTG	0.586													False	1	False	21:47855894	0	-	47855896	GAA	-	47855894	7	5	52	1	0	1	0	1	0	0	0	0	11658	1045	37	0	8983	0	PCNT	21	47855894	In_Frame_Del	DEL	GAA	TCGA-HV-A5A3-01A-11D-A26I-08	1798281	47855894	274001	47	4192											
WNT7B	7477	broad.mit.edu	37	chr22	46327243	46327243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtacgtgaaggcagcctcaCggctccctgcggggacagac	14	14	1	2			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:46327243C>T	ENST00000339464.4	-	3	679	c.305G>A	c.(304-306)cGt>cAt	p.R102H	WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H|WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	102					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCCTCACGGCTCCCTGC	0.701													False	0	False	22:46327243	0	T	46327243	C	T	46327243	3	4	52	1	0	0	0	0	1	0	0	0	17479	536	19	1	752	1	WNT7B	22	46327243	Missense_Mutation	SNP	C	TCGA-HV-A5A3-01A-11D-A26I-08		46327243	4977323	48	4193											
ESPN	83715	broad.mit.edu	37	chr1	6505817	6505879	+	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-													gggcacgattgggaagcccaCacccccaccacccccaccca					rs139266211	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	-	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENST00000377828.1	+	7	1454_1516	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca	p.PPPPPPSFPPPPPPPGTQLPP430del	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	430	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGGAAGcccacacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgcccccacccccacc	0.65													False	1	True	1:6505817	0	-	6505879	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	6505817	7	5	53	1	0	1	0	1	0	0	0	0	5286	478	17	0	1312	0	ESPN	1	6505817	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	TCGA-HV-A5A4-01A-11D-A26I-08		6505817	242744804	1	4194											
PTCHD2	57540	broad.mit.edu	37	chr1	11596541	11596541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagattgtggcactcaacaCgggcgtgtccatcctctaca	9	13	2	1			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:11596541C>T	ENST00000294484.6	+	21	4115	c.3977C>T	c.(3976-3978)aCg>aTg	p.T1326M	PTCHD2_ENST00000304391.6_Silent_p.H212H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.T1326M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1326					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCACTCAACACGGGCGTGTCC	0.607													False	0	True	1:11596541	0	T	11596541	C	T	11596541	3	4	53	1	0	0	0	0	1	0	0	0	12809	536	19	1	4055	1	PTCHD2	1	11596541	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08	5090724	11596541	237654080	2	4195											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	53	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-HV-A5A4-01A-11D-A26I-08	11390844	22987385	226263236	3	4196											
TNFAIP8L2	79626	broad.mit.edu	37	chr1	151131265	151131265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtggctcatctcttcaTagatgagacaagcagtgagg	11	9	4	3			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:151131265T>C	ENST00000368910.3	+	2	218	c.92T>C	c.(91-93)aTa>aCa	p.I31T		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	31					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATCTCTTCATAGATGAGACA	0.567													False	0	False	1:151131265	0	C	151131265	T	C	151131265	3	2	53	1	0	0	0	0	1	0	0	0	16360	1406	49	4	94	4	TNFAIP8L2	1	151131265	Missense_Mutation	SNP	T	TCGA-HV-A5A4-01A-11D-A26I-08	128143880	151131265	98119356	4	4197											
AQP10	89872	broad.mit.edu	37	chr1	154296116	154296116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggccatcctggacagaCggaacaagggagtccctgcg	13	12	1	1			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:154296116C>T	ENST00000484864.1	+	5	577	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	AQP10_ENST00000324978.3_Missense_Mutation_p.R181W|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	181					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.R181W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGGACAGACGGAACAAGGG	0.612													False	0	False	1:154296116	0	T	154296116	C	T	154296116	3	4	53	1	0	0	0	0	1	0	0	0	824	527	19	1	559	1	AQP10	1	154296116	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08	3164851	154296116	94954505	5	4198											
PRKRA	8575	broad.mit.edu	37	chr2	179309229	179309229	+	Splice_Site	DEL	T	T	-													ggggtcaggaactgcaaagcTaaatattttttaaaagtgtt							TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:179309229delT	ENST00000325748.4	-	4	518		c.e4-2		PRKRA_ENST00000487082.1_Splice_Site|PRKRA_ENST00000432031.2_Splice_Site|PRKRA_ENST00000438687.3_Splice_Site	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator						immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ACTGCAAAGCTAAATATTTTT	0.338													False	1	True	2:179309229	0	-	179309229	T	-	179309229	8	5	53	1	0	1	0	1	0	0	1	0	12600	1536	53	0	645	0	PRKRA	2	179309229	Splice_Site	DEL	T	TCGA-HV-A5A4-01A-11D-A26I-08		179309229	63890144	6	4199											
TTN	7273	broad.mit.edu	37	chr2	179599224	179599224	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgaatttgtttcttgtctttGaaccagctaatttcaaatgg	7	7	3	1			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:179599224G>C	ENST00000589042.1	-	52	15551	c.15327C>G	c.(15325-15327)ttC>ttG	p.F5109L	TTN_ENST00000342992.6_Missense_Mutation_p.F3865L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.F4792L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4792	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGTCTTTGAACCAGCTAA	0.383													False	0	True	2:179599224	0	C	179599224	G	C	179599224	3	2	53	1	0	0	0	0	1	0	0	0	16819	1281	45	5	89446	5	TTN	2	179599224	Missense_Mutation	SNP	G	TCGA-HV-A5A4-01A-11D-A26I-08	289995	179599224	63600149	7	4200											
SNED1	25992	broad.mit.edu	37	chr2	241991878	241991878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtacatgggacgccggtgCcaggcaggtgagagggtcag	20	8	1	1			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:241991878C>T	ENST00000310397.8	+	15	2076	c.2076C>T	c.(2074-2076)tgC>tgT	p.C692C	SNED1_ENST00000401884.1_Silent_p.C692C|SNED1_ENST00000342631.6_Silent_p.C692C|SNED1_ENST00000405547.3_Silent_p.C692C|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	692	EGF-like 10.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GACGCCGGTGCCAGGCAGGTG	0.637													False	0	True	2:241991878	0	T	241991878	C	T	241991878	2	4	53	1	0	0	0	0	0	0	0	1	14925	747	26	2		2	SNED1	2	241991878	Silent	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08	62392654	241991878	1207495	8	4201											
FYCO1	79443	broad.mit.edu	37	chr3	46008034	46008034	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcgtcctggagctccTggacagcacaggccagtgcc	13	14	0	0			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:46008034T>C	ENST00000296137.2	-	8	2997	c.2792A>G	c.(2791-2793)cAg>cGg	p.Q931R	FYCO1_ENST00000535325.1_Missense_Mutation_p.Q931R	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	931					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGGAGCTCCTGGACAGCACA	0.627													False	0	False	3:46008034	0	C	46008034	T	C	46008034	3	2	53	1	0	0	0	0	1	0	0	0	6167	1580	55	4	1688	4	FYCO1	3	46008034	Missense_Mutation	SNP	T	TCGA-HV-A5A4-01A-11D-A26I-08		46008034	152014396	9	4202											
PRKCD	5580	broad.mit.edu	37	chr3	53218900	53218900	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcaccccagactgcggcatGaatgtgcaccataaatgccg	9	14	1	2			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:53218900G>T	ENST00000394729.2	+	9	1126	c.798G>T	c.(796-798)atG>atT	p.M266I	PRKCD_ENST00000330452.3_Missense_Mutation_p.M266I	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	266					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		ACTGCGGCATGAATGTGCACC	0.597													False	0	False	3:53218900	0	T	53218900	G	T	53218900	3	4	53	1	0	0	0	0	1	0	0	0	12585	1290	45	3	828	3	PRKCD	3	53218900	Missense_Mutation	SNP	G	TCGA-HV-A5A4-01A-11D-A26I-08	7210866	53218900	144803530	10	4203											
PDZRN3	23024	broad.mit.edu	37	chr3	73433778	73433778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgagctccaggagctcgcGgaagcgctcgcactcgtcca	12	15	0	1			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:73433778G>A	ENST00000263666.4	-	10	2053	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C	PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304C|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	647							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGAGCTCGCGGAAGCGCTCG	0.662													False	0	False	3:73433778	0	A	73433778	G	A	73433778	3	1	53	1	0	0	0	0	1	0	0	0	11777	1116	39	1	1265	1	PDZRN3	3	73433778	Missense_Mutation	SNP	G	TCGA-HV-A5A4-01A-11D-A26I-08	20214878	73433778	124588652	11	4204											
STXBP5L	9515	broad.mit.edu	37	chr3	120673880	120673880	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgagaacaggtgctataCgaatgtatccttaaattttg	10	6	0	1			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:120673880C>T	ENST00000273666.6	+	3	554	c.283C>T	c.(283-285)Cga>Tga	p.R95*	STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.R95*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	95					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGGTGCTATACGAATGTATCC	0.363													False	0	False	3:120673880	0	T	120673880	C	T	120673880	4	4	53	1	0	0	0	0	0	1	0	0	15439	528	19	1	289	1	STXBP5L	3	120673880	Nonsense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08	47240102	120673880	77348550	12	4205											
DKK2	27123	broad.mit.edu	37	chr4	107845202	107845202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccttcgcacagtcgcaaCgctggaaaatttccagccca	9	15	0	0			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:107845202C>T	ENST00000285311.3	-	4	1394	c.689G>A	c.(688-690)cGt>cAt	p.R230H	DKK2_ENST00000510463.1_Missense_Mutation_p.R184H|DKK2_ENST00000513208.1_Missense_Mutation_p.R130H	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	230	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.R230H(3)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACAGTCGCAACGCTGGAAAAT	0.488													False	0	False	4:107845202	0	T	107845202	C	T	107845202	3	4	53	1	0	0	0	0	1	0	0	0	4575	536	19	1	94	1	DKK2	4	107845202	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08		107845202	83309074	13	4206											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	53	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-HV-A5A4-01A-11D-A26I-08		78610444	102304816	14	4207											
PCDHB16	0	broad.mit.edu	37	chr5	140564033	140564033	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaggctgctgagcgagcgCgacgcagccaagcagaggct	16	13	0	2			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:140564033C>A	ENST00000361016.2	+	1	3054	c.1899C>A	c.(1897-1899)cgC>cgA	p.R633R		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		633	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCAGCCA	0.692													False	0	True	5:140564033	0	A	140564033	C	A	140564033	2	1	53	1	0	0	0	0	0	0	0	1	11609	755	27	3		3	PCDHB16	5	140564033	Silent	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08	61953589	140564033	40351227	15	4208											
PDGFRB	5159	broad.mit.edu	37	chr5	149513526	149513526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgatgttctcaccctggCggaccacagtctgcactgcg	13	13	2	1			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:149513526C>T	ENST00000261799.4	-	5	1146	c.677G>A	c.(676-678)cGc>cAc	p.R226H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	226	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCACCCTGGCGGACCACAGT	0.542			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								False	0	False	5:149513526	0	T	149513526	C	T	149513526	3	4	53	1	0	0	0	0	1	0	0	0	11730	768	27	1	2719	1	PDGFRB	5	149513526	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08	8949493	149513526	31401734	16	4209											
DOCK2	1794	broad.mit.edu	37	chr5	169509808	169509808	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctctcaaaagctggccagCaaatcggctgaagaaggcaa	10	10	2	2			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:169509808C>A	ENST00000256935.8	+	52	5519	c.5439C>A	c.(5437-5439)agC>agA	p.S1813R	DOCK2_ENST00000520908.1_Missense_Mutation_p.S1305R|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.S874R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1813					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGGCCAGCAAATCGGCTG	0.512													False	0	True	5:169509808	0	A	169509808	C	A	169509808	3	1	53	1	0	0	0	0	1	0	0	0	4717	709	25	3	5645	3	DOCK2	5	169509808	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08	19996282	169509808	11405452	17	4210											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	53	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-HV-A5A4-01A-11D-A26I-08		7393450	163721617	18	4211											
BRD2	6046	broad.mit.edu	37	chr6	32944179	32944179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacttctcaagtccttgCactctgctggacccccgctc	6	19	2	0			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:32944179C>T	ENST00000395289.2	+	6	2364	c.763C>T	c.(763-765)Cac>Tac	p.H255Y	BRD2_ENST00000443797.2_Missense_Mutation_p.H135Y|BRD2_ENST00000374831.4_Missense_Mutation_p.H255Y|BRD2_ENST00000449085.2_Missense_Mutation_p.H208Y|BRD2_ENST00000374825.4_Missense_Mutation_p.H255Y|BRD2_ENST00000395287.1_Missense_Mutation_p.H255Y			P25440	BRD2_HUMAN	bromodomain containing 2	255					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CAAGTCCTTGCACTCTGCTGG	0.562													False	0	False	6:32944179	0	T	32944179	C	T	32944179	3	4	53	1	0	0	0	0	1	0	0	0	1509	710	25	2	781	2	BRD2	6	32944179	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08	25550729	32944179	138170888	19	4212											
BACH2	60468	broad.mit.edu	37	chr6	90660535	90660535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctggaggagaagatcacGctcctccggtccagctctcc	12	15	2	2			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:90660535G>A	ENST00000257749.4	-	7	1997	c.1290C>T	c.(1288-1290)agC>agT	p.S430S	BACH2_ENST00000537989.1_Silent_p.S430S|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Silent_p.S430S	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	430						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGAAGATCACGCTCCTCCGGT	0.592													False	0	False	6:90660535	0	A	90660535	G	A	90660535	2	1	53	1	0	0	0	0	0	0	0	1	1288	1078	38	1		1	BACH2	6	90660535	Silent	SNP	G	TCGA-HV-A5A4-01A-11D-A26I-08	57716356	90660535	80454532	20	4213											
SYNE1	23345	broad.mit.edu	37	chr6	152614868	152614868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagcttcatagagtgtgCgctgcttctcactgatctac	8	12	3	2	rs80265744	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:152614868C>T	ENST00000367255.5	-	95	18468	c.17867G>A	c.(17866-17868)cGc>cAc	p.R5956H	SYNE1_ENST00000423061.1_Missense_Mutation_p.R5885H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R5568H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R480H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5956H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5885H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5956					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAGAGTGTGCGCTGCTTCTC	0.468										HNSCC(10;0.0054)			False	0	False	6:152614868	0	T	152614868	C	T	152614868	3	4	53	1	0	0	0	0	1	0	0	0	15527	768	27	1	8807	1	SYNE1	6	152614868	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08	61954333	152614868	18500199	21	4214											
TNRC18	84629	broad.mit.edu	37	chr7	5410118	5410118	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctcggctgcttccagcttCtccaaggcctgggctccagc	10	17	2	0			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:5410118C>A	ENST00000399537.4	-	11	4455	c.4107G>T	c.(4105-4107)gaG>gaT	p.E1369D	TNRC18_ENST00000430969.1_Missense_Mutation_p.E1369D			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1369							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTCCAGCTTCTCCAAGGCCT	0.662													False	0	False	7:5410118	0	A	5410118	C	A	5410118	3	1	53	1	0	0	0	0	1	0	0	0	16421	912	32	3	4879	3	TNRC18	7	5410118	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08		5410118	153728545	22	4215											
MAGI2	9863	broad.mit.edu	37	chr7	78636417	78636417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtactcacatggcaccgtgCggaggtagaggttgtcacga	14	9	2	1			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:78636417C>T	ENST00000354212.4	-	2	660	c.407G>A	c.(406-408)cGc>cAc	p.R136H	MAGI2_ENST00000419488.1_Missense_Mutation_p.R136H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R136H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	136	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGCACCGTGCGGAGGTAGAG	0.373													False	0	False	7:78636417	0	T	78636417	C	T	78636417	3	4	53	1	0	0	0	0	1	0	0	0	9258	768	27	1	4044	1	MAGI2	7	78636417	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08	73226299	78636417	80502246	23	4216											
CYP3A5	0	broad.mit.edu	37	chr7	99258126	99258126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcatcccctcaccttaTtgggcaaaactgcatcaatc	8	13	3	0			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:99258126T>C	ENST00000343703.5	-	11	1378	c.992A>G	c.(991-993)aAt>aGt	p.N331S	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.N341S					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					CCTCACCTTATTGGGCAAAAC	0.458													False	0	False	7:99258126	0	C	99258126	T	C	99258126	3	2	53	1	0	0	0	0	1	0	0	0	4205	1493	52	4	502	4	CYP3A5	7	99258126	Missense_Mutation	SNP	T	TCGA-HV-A5A4-01A-11D-A26I-08	20621709	99258126	59880537	24	4217											
C9orf66	157983	broad.mit.edu	37	chr9	215392	215392	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgggcgcgccacggagtgtCtcataaacggctccttcctt	11	13	1	0			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:215392C>T	ENST00000382387.2	-	1	501	c.5G>A	c.(4-6)aGa>aAa	p.R2K	DOCK8_ENST00000453981.1_Intron|DOCK8_ENST00000432829.2_Intron	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	2										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CACGGAGTGTCTCATAAACGG	0.597													False	0	False	9:215392	0	T	215392	C	T	215392	3	4	53	1	0	0	0	0	1	0	0	0	2510	913	32	2	886	2	C9orf66	9	215392	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08		215392	140998039	25	4218											
NOL8	55035	broad.mit.edu	37	chr9	95077968	95077968	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgtaagttttcctctttCgcaatcatcattctcaattc	3	12	5	0			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:95077968C>T	ENST00000545558.1	-	7	1431	c.939G>A	c.(937-939)gcG>gcA	p.A313A	NOL8_ENST00000542053.1_Silent_p.A245A|NOL8_ENST00000535387.1_Silent_p.A313A|NOL8_ENST00000358855.4_Silent_p.A245A|NOL8_ENST00000442668.2_Silent_p.A313A			Q76FK4	NOL8_HUMAN	nucleolar protein 8	313					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTTCCTCTTTCGCAATCATCA	0.368													False	0	True	9:95077968	0	T	95077968	C	T	95077968	2	4	53	1	0	0	0	0	0	0	0	1	10595	871	31	1		1	NOL8	9	95077968	Silent	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08	94862576	95077968	46135463	26	4219											
GLT6D1	360203	broad.mit.edu	37	chr9	138516347	138516347	+	Frame_Shift_Del	DEL	A	A	-													caccagggggccatcgagccAccacctctcggtgcccactt					rs34217442		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:138516347delA	ENST00000371763.1	-	5	680	c.427delT	c.(427-429)tggfs	p.W143fs		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	143					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCATCGAGCCACCACCTCTCG	0.552													False	1	False	9:138516347	0	-	138516347	A	-	138516347	7	5	53	1	0	1	0	1	0	0	0	0	6513	159	6	0	407	0	GLT6D1	9	138516347	Frame_Shift_Del	DEL	A	TCGA-HV-A5A4-01A-11D-A26I-08	43438379	138516347	2697084	27	4220											
CACNA1B	774	broad.mit.edu	37	chr9	140919489	140919489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcacctgtctccagaagGtggaggaacagccagaggat	13	11	1	2			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:140919489G>A	ENST00000277549.5	+	20	3296	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1052M|CACNA1B_ENST00000371372.1_Missense_Mutation_p.V1051M|CACNA1B_ENST00000545473.1_Missense_Mutation_p.V35M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371367.5_Missense_Mutation_p.V35M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1052M			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1051					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTCCAGAAGGTGGAGGAACA	0.562													False	0	False	9:140919489	0	A	140919489	G	A	140919489	3	1	53	1	0	0	0	0	1	0	0	0	2559	1261	44	2	3229	2	CACNA1B	9	140919489	Missense_Mutation	SNP	G	TCGA-HV-A5A4-01A-11D-A26I-08	2403142	140919489	293942	28	4221											
PDCD4	27250	broad.mit.edu	37	chr10	112649342	112649342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatggaattttatgtaatAcctatattgatagttacaaa	7	3	0	2			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr10:112649342A>G	ENST00000393104.2	+	8	1156	c.796A>G	c.(796-798)Acc>Gcc	p.T266A	PDCD4_ENST00000280154.7_Missense_Mutation_p.T277A|PDCD4_ENST00000481353.1_3'UTR	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	277	MI 1.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TTTATGTAATACCTATATTGA	0.313													False	0	False	10:112649342	0	G	112649342	A	G	112649342	3	3	53	1	0	0	0	0	1	0	0	0	11689	391	14	4	865	4	PDCD4	10	112649342	Missense_Mutation	SNP	A	TCGA-HV-A5A4-01A-11D-A26I-08		112649342	22885405	29	4222											
APBB1	322	broad.mit.edu	37	chr11	6432332	6432332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattctggtcacggtgggcCgtggcggcccgccggagctg	18	13	2	0			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr11:6432332C>T	ENST00000609360.1	-	2	345	c.246G>A	c.(244-246)acG>acA	p.T82T	APBB1_ENST00000311051.3_Silent_p.T82T|APBB1_ENST00000389906.2_Silent_p.T82T|APBB1_ENST00000299402.6_Silent_p.T82T	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CACGGTGGGCCGTGGCGGCCC	0.667													False	0	False	11:6432332	0	T	6432332	C	T	6432332	2	4	53	1	0	0	0	0	0	0	0	1	761	639	23	1		1	APBB1	11	6432332	Silent	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08		6432332	128574184	30	4223											
DCP1B	196513	broad.mit.edu	37	chr12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG													gctgctgctgctgctgctgcINStggtggagagtctgcggagg							TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr12:2062350_2062351insTGG	ENST00000540622.1	-	4	435_436	c.377_378insCCA	c.(376-378)cag>caCCAg	p.125_126insH	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH|DCP1B_ENST00000280665.6_In_Frame_Ins_p.251_252insH			Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.55													False	2	True	12:2062350	0	TGG	2062351	-	TGG	2062350	7	5	53	1	0	1	1	0	0	0	0	0	4324	796	28	0	1109	0	DCP1B	12	2062350	In_Frame_Ins	INS	-	TCGA-HV-A5A4-01A-11D-A26I-08		2062350	131789545	31	4224											
OR10G2	26534	broad.mit.edu	37	chr14	22102229	22102231	+	In_Frame_Del	DEL	TAG	TAG	-													agatgaaaatacaggggacaTagtagactgtgaccacgatt							TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	TAG	TAG	-	-	TAG	TAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:22102229_22102231delTAG	ENST00000542433.1	-	1	865_867	c.768_770delCTA	c.(766-771)tactat>tat	p.256_257YY>Y		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		ACAGGGGACATAGTAGACTGTGA	0.552													False	2	False	14:22102229	0	-	22102231	TAG	-	22102229	7	5	53	1	0	1	0	1	0	0	0	0	10967	1406	49	0	165	0	OR10G2	14	22102229	In_Frame_Del	DEL	TAG	TCGA-HV-A5A4-01A-11D-A26I-08		22102229	85247311	32	4225											
IQCH	64799	broad.mit.edu	37	chr15	67555549	67555549	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttatatactccccaggcttcCaaatggtaagtaaaatagcc	6	10	0	0			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:67555549C>G	ENST00000335894.4	+	3	330	c.264C>G	c.(262-264)tcC>tcG	p.S88S	IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000512104.1_Silent_p.S88S|IQCH_ENST00000546225.1_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	88										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCCAGGCTTCCAAATGGTAAG	0.313													False	0	True	15:67555549	0	G	67555549	C	G	67555549	2	3	53	1	0	0	0	0	0	0	0	1	7861	581	21	5		5	IQCH	15	67555549	Silent	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08		67555549	34975843	33	4226											
CACNA1H	8912	broad.mit.edu	37	chr16	1270897	1270897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccccccagagaagaggcGggggctgtacctcacagtcc	13	14	1	3			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:1270897G>A	ENST00000348261.5	+	35	7213	c.6965G>A	c.(6964-6966)cGg>cAg	p.R2322Q	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R2316Q|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R2316Q	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2322					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GAGAAGAGGCGGGGGCTGTAC	0.652													False	0	True	16:1270897	0	A	1270897	G	A	1270897	3	1	53	1	0	0	0	0	1	0	0	0	2565	1116	39	1	7099	1	CACNA1H	16	1270897	Missense_Mutation	SNP	G	TCGA-HV-A5A4-01A-11D-A26I-08		1270897	89083856	34	4227											
UMOD	7369	broad.mit.edu	37	chr16	20357476	20357476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcccacaggggccatccCgggctggggtcactacagac	13	15	1	1	rs141355380		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:20357476C>T	ENST00000396134.2	-	6	1376	c.1253G>A	c.(1252-1254)cGg>cAg	p.R418Q	UMOD_ENST00000302509.4_Missense_Mutation_p.R385Q|UMOD_ENST00000570689.1_Missense_Mutation_p.R385Q|UMOD_ENST00000424589.1_Missense_Mutation_p.R418Q|UMOD_ENST00000396142.2_Missense_Mutation_p.R385Q|UMOD_ENST00000396138.4_Missense_Mutation_p.R434Q	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	385	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGGCCATCCCGGGCTGGGGT	0.587													False	0	True	16:20357476	0	T	20357476	C	T	20357476	3	4	53	1	0	0	0	0	1	0	0	0	17063	652	23	1	796	1	UMOD	16	20357476	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08	19086579	20357476	69997277	35	4228											
TRADD	8717	broad.mit.edu	37	chr16	67189164	67189164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttcgcagcgcatcctccaGctcagccagttcttcatccc	6	17	3	0			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:67189164G>T	ENST00000345057.4	-	4	931	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	TRADD_ENST00000486556.1_Missense_Mutation_p.L95M	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	155					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCATCCTCCAGCTCAGCCAGT	0.692													False	0	False	16:67189164	0	T	67189164	G	T	67189164	3	4	53	1	0	0	0	0	1	0	0	0	16519	962	34	3	483	3	TRADD	16	67189164	Missense_Mutation	SNP	G	TCGA-HV-A5A4-01A-11D-A26I-08	46831688	67189164	23165589	36	4229											
GFAP	2670	broad.mit.edu	37	chr17	42992592	42992592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttttgctgttccaggaagCgaaccttctcgatgtagctg	11	9	1	0			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:42992592C>T	ENST00000253408.5	-	1	328	c.263G>A	c.(262-264)cGc>cAc	p.R88H	GFAP_ENST00000435360.2_Missense_Mutation_p.R88H|GFAP_ENST00000586793.1_Missense_Mutation_p.R88H|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	88	Coil 1A.|Rod.		R -> C (in ALEXD; dbSNP:rs61622935).|R -> S (in ALEXD).			cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTCCAGGAAGCGAACCTTCTC	0.607													False	0	False	17:42992592	0	T	42992592	C	T	42992592	3	4	53	1	0	0	0	0	1	0	0	0	6382	768	27	1	1200	1	GFAP	17	42992592	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08		42992592	38202618	37	4230											
GAA	2548	broad.mit.edu	37	chr17	78086379	78086379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccccaccaccccagggCgctggtgaaggctcggggga	15	15	0	1			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:78086379C>T	ENST00000302262.3	+	13	1976	c.1757C>T	c.(1756-1758)gCg>gTg	p.A586V	GAA_ENST00000390015.3_Missense_Mutation_p.A586V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	586					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CACCCCAGGGCGCTGGTGAAG	0.682													False	0	True	17:78086379	0	T	78086379	C	T	78086379	3	4	53	1	0	0	0	0	1	0	0	0	6189	768	27	1	1803	1	GAA	17	78086379	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08	35093787	78086379	3108831	38	4231											
RNF213	57674	broad.mit.edu	37	chr17	78282819	78282819	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttaactctttgcggggcaggAttcccgaggaggccttgtca	13	10	2	0	rs143170125		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:78282819A>T	ENST00000582970.1	+	14	2646	c.2503A>T	c.(2503-2505)Att>Ttt	p.I835F	RNF213_ENST00000508628.2_Splice_Site_p.I884F|RNF213_ENST00000319921.4_Splice_Site_p.I835F|RNF213_ENST00000456466.1_Splice_Site_p.I835F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	835										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCGGGGCAGGATTCCCGAGGA	0.478													False	0	False	17:78282819	0	T	78282819	A	T	78282819	5	4	53	1	0	0	0	0	0	0	1	0	13556	347	12	5	2704	5	RNF213	17	78282819	Splice_Site	SNP	A	TCGA-HV-A5A4-01A-11D-A26I-08	196440	78282819	2912391	39	4232											
NPC1	4864	broad.mit.edu	37	chr18	21136301	21136301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtcagtgagaggggccCggatgatgagctgctccgtc	16	9	1	3	rs77080672	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr18:21136301C>T	ENST00000269228.5	-	8	1786	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.R161Q	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	411					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAGAGGGGCCCGGATGATGAG	0.557													False	0	True	18:21136301	0	T	21136301	C	T	21136301	3	4	53	1	0	0	0	0	1	0	0	0	10638	652	23	1	2676	1	NPC1	18	21136301	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08		21136301	56940947	40	4233											
SMAD4	4089	broad.mit.edu	37	chr18	48604736	48604736	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acccaagacagagcatcaaaGaaacaccttgctggattgaa	8	10	1	4			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr18:48604736G>T	ENST00000342988.3	+	12	2096	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	520	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.E520*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAGCATCAAAGAAACACCTTG	0.488													False	0	True	18:48604736	0	T	48604736	G	T	48604736	4	4	53	1	0	0	0	0	0	1	0	0	14840	943	33	3	1600	3	SMAD4	18	48604736	Nonsense_Mutation	SNP	G	TCGA-HV-A5A4-01A-11D-A26I-08	27468435	48604736	29472512	41	4234											
TJP3	27134	broad.mit.edu	37	chr19	3740730	3740730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacccgacagggccgctaCccgccctacgaacgagtggt	12	16	0	1	rs139746746	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:3740730C>T	ENST00000541714.2	+	14	2274	c.1812C>T	c.(1810-1812)taC>taT	p.Y604Y	TJP3_ENST00000539908.2_Silent_p.Y568Y|TJP3_ENST00000262968.9_Silent_p.Y637Y|TJP3_ENST00000382008.3_Silent_p.Y618Y|TJP3_ENST00000587686.1_Silent_p.Y623Y|TJP3_ENST00000589378.1_Silent_p.Y613Y	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	618	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGCCGCTACCCGCCCTACG	0.667													False	0	True	19:3740730	0	T	3740730	C	T	3740730	2	4	53	1	0	0	0	0	0	0	0	1	16013	518	18	2		2	TJP3	19	3740730	Silent	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08		3740730	55388253	42	4235											
PLIN4	729359	broad.mit.edu	37	chr19	4513275	4513275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacacagcatctttggtgcCggtcagcacagccttggagg	14	11	2	0			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:4513275C>T	ENST00000301286.3	-	3	654	c.655G>A	c.(655-657)Ggc>Agc	p.G219S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	219	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTTTGGTGCCGGTCAGCACA	0.577													False	0	False	19:4513275	0	T	4513275	C	T	4513275	3	4	53	1	0	0	0	0	1	0	0	0	12161	652	23	1	3434	1	PLIN4	19	4513275	Missense_Mutation	SNP	C	TCGA-HV-A5A4-01A-11D-A26I-08	772545	4513275	54615708	43	4236											
KLK2	3817	broad.mit.edu	37	chr19	51378013	51378013	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagtctcggattgtgggagGctgggagtgtgagaagcatt	17	6	1	1			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:51378013G>T	ENST00000325321.3	+	2	308	c.83G>T	c.(82-84)gGc>gTc	p.G28V	KLK2_ENST00000391810.2_Intron|KLK2_ENST00000358049.4_Missense_Mutation_p.G28V|AC037199.1_ENST00000594218.1_Missense_Mutation_p.P10T|KLK2_ENST00000597509.1_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	28	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		ATTGTGGGAGGCTGGGAGTGT	0.622			T	ETV4	prostate								False	0	False	19:51378013	0	T	51378013	G	T	51378013	3	4	53	1	0	0	0	0	1	0	0	0	8454	1203	42	3	89	3	KLK2	19	51378013	Missense_Mutation	SNP	G	TCGA-HV-A5A4-01A-11D-A26I-08	46864738	51378013	7750970	44	4237											
PEG3	5178	broad.mit.edu	37	chr19	57327380	57327380	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgatggttgatagcatcGaagctctgaatggtagactc	11	8	2	4			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:57327380G>A	ENST00000326441.9	-	10	2793	c.2430C>T	c.(2428-2430)ttC>ttT	p.F810F	PEG3_ENST00000593695.1_Silent_p.F684F|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.F810F|PEG3_ENST00000598410.1_Silent_p.F686F|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	810					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F810F(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGATAGCATCGAAGCTCTGAA	0.468													False	0	False	19:57327380	0	A	57327380	G	A	57327380	2	1	53	1	0	0	0	0	0	0	0	1	11788	1049	37	1		1	PEG3	19	57327380	Silent	SNP	G	TCGA-HV-A5A4-01A-11D-A26I-08	5949367	57327380	1801603	45	4238											
PES1	23481	broad.mit.edu	37	chr22	30975143	30975143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcccctccatcctctgcTcttccagggctgccagccgg	8	20	2	0			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:30975143T>C	ENST00000402281.1	-	15	2076	c.1085A>G	c.(1084-1086)gAg>gGg	p.E362G	PES1_ENST00000335214.6_Missense_Mutation_p.E496G|PES1_ENST00000354694.7_Missense_Mutation_p.E501G|PES1_ENST00000405677.1_Missense_Mutation_p.E362G|PES1_ENST00000402284.3_Missense_Mutation_p.E484G	NM_001282327.1	NP_001269256.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	501	BRCT.|Sufficient for interaction with MAP1B (By similarity).				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CATCCTCTGCTCTTCCAGGGC	0.602													False	0	False	22:30975143	0	C	30975143	T	C	30975143	3	2	53	1	0	0	0	0	1	0	0	0	11801	1551	54	4	276	4	PES1	22	30975143	Missense_Mutation	SNP	T	TCGA-HV-A5A4-01A-11D-A26I-08		30975143	20329423	46	4239											
PLXNB2	23654	broad.mit.edu	37	chr22	50717108	50717109	+	Frame_Shift_Ins	INS	-	-	GGAGCCC													tccgacaggatctgcgctgtINSggagcccggacgccactctg							TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:50717108_50717109insGGAGCCC	ENST00000449103.1	-	29	4703_4704	c.4563_4564insGGGCTCC	c.(4561-4566)tccacafs	p.T1522fs	PLXNB2_ENST00000359337.4_Frame_Shift_Ins_p.T1522fs			O15031	PLXB2_HUMAN	plexin B2	1522					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATCTGCGCTGTGGAGCCCGGAC	0.639													False	1	False	22:50717108	0	GGAGCCC	50717109	-	GGAGCCC	50717108	7	5	53	1	0	1	1	0	0	0	0	0	12193	1696	59	0	988	0	PLXNB2	22	50717108	Frame_Shift_Ins	INS	-	TCGA-HV-A5A4-01A-11D-A26I-08	19741965	50717108	587458	47	4240											
IRS4	8471	broad.mit.edu	37	chrX	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-													ctgctgctagagctgccgctGccgccgctgctgcacctctt					rs2073114	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616													False	2	True	X:107979510	0	-	107979512	GCC	-	107979510	7	5	53	1	0	1	0	1	0	0	0	0	7892	1319	46	0	3712	0	IRS4	23	107979510	In_Frame_Del	DEL	GCC	TCGA-HV-A5A4-01A-11D-A26I-08		107979510	47291050	48	4241											
ZCCHC16	340595	broad.mit.edu	37	chrX	111697971	111697971	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacataatggagaagtgcacGaaatcatcatctaccatgca	8	9	3	1			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:111697971G>A	ENST00000340433.2	+	1	245	c.15G>A	c.(13-15)acG>acA	p.T5T		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	5							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGAAGTGCACGAAATCATCAT	0.458													False	0	True	X:111697971	0	A	111697971	G	A	111697971	2	1	53	1	0	0	0	0	0	0	0	1	17667	1045	37	1		1	ZCCHC16	23	111697971	Silent	SNP	G	TCGA-HV-A5A4-01A-11D-A26I-08	3718461	111697971	43572589	49	4242											
VGLL1	51442	broad.mit.edu	37	chrX	135618242	135618242	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacagaagcctataaagacGgaatggaattcccggtgtgt	11	7	0	2			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:135618242G>A	ENST00000370634.3	+	2	233	c.63G>A	c.(61-63)acG>acA	p.T21T		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	p.T21T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CTATAAAGACGGAATGGAATT	0.493													False	0	True	X:135618242	0	A	135618242	G	A	135618242	2	1	53	1	0	0	0	0	0	0	0	1	17242	1103	39	1		1	VGLL1	23	135618242	Silent	SNP	G	TCGA-HV-A5A4-01A-11D-A26I-08	23920271	135618242	19652318	50	4243											
CASQ2	845	broad.mit.edu	37	chr1	116243875	116243877	+	In_Frame_Del	DEL	TCG	TCG	-													agttgggctattcatcatcaTcgtcatcactgtcatcatta					rs7413162	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr1:116243875_116243877delTCG	ENST00000261448.5	-	11	1424_1426	c.1185_1187delCGA	c.(1183-1188)gacgat>gat	p.395_396DD>D	CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	395	Asp/Glu-rich (acidic).				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		Ttcatcatcatcgtcatcactgt	0.404													False	1	True	1:116243875	0	-	116243877	TCG	-	116243875	7	5	54	1	0	1	0	1	0	0	0	0	2701	1435	50	0	16	0	CASQ2	1	116243875	In_Frame_Del	DEL	TCG	TCGA-HV-A5A5-01A-11D-A26I-08		116243875	133006746	1	4244											
NOTCH2	4853	broad.mit.edu	37	chr1	120458964	120458964	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacttcttcctcctactaccCttggcatcctttgcctcctt	4	17	1	0			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr1:120458964C>G	ENST00000256646.2	-	34	6600	c.6381G>C	c.(6379-6381)aaG>aaC	p.K2127N		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2127					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTACTACCCTTGGCATCCT	0.507			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				False	0	True	1:120458964	0	G	120458964	C	G	120458964	3	3	54	1	0	0	0	0	1	0	0	0	10616	680	24	5	1038	5	NOTCH2	1	120458964	Missense_Mutation	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08	4215089	120458964	128791657	2	4245											
SLC27A3	11000	broad.mit.edu	37	chr1	153747985	153747996	+	In_Frame_Del	DEL	CCTGCTGCTGCC	CCTGCTGCTGCC	-													gcgggctccatggctgccctCctgctgctgcccctgctgct					rs143599353		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	CCTGCTGCTGCC	CCTGCTGCTGCC	-	-	CCTGCTGCTGCC	CCTGCTGCTGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr1:153747985_153747996delCCTGCTGCTGCC	ENST00000271857.2	+	1	1156_1167	c.396_407delCCTGCTGCTGCC	c.(394-408)ctcctgctgctgccc>ctc	p.LLLP133del	SLC27A3_ENST00000484014.1_Intron|SLC27A3_ENST00000368661.3_In_Frame_Del_p.LLLP52del			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	52					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGCTGCCCTCctgctgctgcccctgctgctg	0.642													False	1	True	1:153747985	0	-	153747996	CCTGCTGCTGCC	-	153747985	7	5	54	1	0	1	0	1	0	0	0	0	14607	842	30	0	155	0	SLC27A3	1	153747985	In_Frame_Del	DEL	CCTGCTGCTGCC	TCGA-HV-A5A5-01A-11D-A26I-08	33289021	153747985	95502636	3	4246											
LRRTM4	80059	broad.mit.edu	37	chr2	77746270	77746270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaccttggctaatggagCgaatcctgttccattgtaag	9	9	1	0			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr2:77746270C>T	ENST00000409088.3	-	3	1139	c.725G>A	c.(724-726)cGc>cAc	p.R242H	LRRTM4_ENST00000409884.1_Missense_Mutation_p.R242H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R243H|LRRTM4_ENST00000409093.1_Missense_Mutation_p.R242H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R243H	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	242						integral to membrane		p.R242H(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCTAATGGAGCGAATCCTGTT	0.448													False	0	False	2:77746270	0	T	77746270	C	T	77746270	3	4	54	1	0	0	0	0	1	0	0	0	9104	768	27	1	1061	1	LRRTM4	2	77746270	Missense_Mutation	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08		77746270	165453103	4	4247											
WNT7A	7476	broad.mit.edu	37	chr3	13860786	13860786	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacaggctccacgtgaacGgcctcgttgtacttgtcctt	10	14	0	1			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr3:13860786G>A	ENST00000285018.4	-	4	1009	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	235					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CCACGTGAACGGCCTCGTTGT	0.622													False	0	False	3:13860786	0	A	13860786	G	A	13860786	2	1	54	1	0	0	0	0	0	0	0	1	17478	1103	39	1		1	WNT7A	3	13860786	Silent	SNP	G	TCGA-HV-A5A5-01A-11D-A26I-08		13860786	184161644	5	4248											
HRASLS	57110	broad.mit.edu	37	chr3	192988436	192988436	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagtttgtgacagctgctgTtggtgtcttctcattcctgg	12	8	2	2			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr3:192988436T>A	ENST00000264735.2	+	4	858	c.764T>A	c.(763-765)gTt>gAt	p.V255D	HRASLS_ENST00000602513.1_Missense_Mutation_p.V150D	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	150										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		ACAGCTGCTGTTGGTGTCTTC	0.378													False	0	False	3:192988436	0	A	192988436	T	A	192988436	3	1	54	1	0	0	0	0	1	0	0	0	7396	1725	60	5	459	5	HRASLS	3	192988436	Missense_Mutation	SNP	T	TCGA-HV-A5A5-01A-11D-A26I-08	179127650	192988436	5033994	6	4249											
ANK2	287	broad.mit.edu	37	chr4	114277476	114277476	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccagctgtgattcatgaaTgtgcagaggaggatgattca	12	6	2	4			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr4:114277476T>G	ENST00000357077.4	+	38	7755	c.7702T>G	c.(7702-7704)Tgt>Ggt	p.C2568G	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.C2535G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2535					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GATTCATGAATGTGCAGAGGA	0.433													False	0	False	4:114277476	0	G	114277476	T	G	114277476	3	3	54	1	0	0	0	0	1	0	0	0	621	1464	51	4	7917	4	ANK2	4	114277476	Missense_Mutation	SNP	T	TCGA-HV-A5A5-01A-11D-A26I-08		114277476	76876800	7	4250											
ANKRD50	57182	broad.mit.edu	37	chr4	125592599	125592599	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagatcttaatgctgtccaAccatcttgatcagtatgatt	7	9	3	3			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr4:125592599A>G	ENST00000504087.1	-	4	2870	c.1833T>C	c.(1831-1833)ggT>ggC	p.G611G	ANKRD50_ENST00000515641.1_Silent_p.G432G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	611										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATGCTGTCCAACCATCTTGAT	0.453													False	0	False	4:125592599	0	G	125592599	A	G	125592599	2	3	54	1	0	0	0	0	0	0	0	1	677	30	2	4		4	ANKRD50	4	125592599	Silent	SNP	A	TCGA-HV-A5A5-01A-11D-A26I-08	11315123	125592599	65561677	8	4251											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184368445	184368445	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagcattgaagttatttctCaagaaaaaggtggtggtaaa	11	3	1	2			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr4:184368445C>T	ENST00000504169.1	+	3	1815	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	536	DRBM.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGTTATTTCTCAAGAAAAAGG	0.383													False	0	False	4:184368445	0	T	184368445	C	T	184368445	2	4	54	1	0	0	0	0	0	0	0	1	3185	813	29	2		2	CDKN2AIP	4	184368445	Silent	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08	58775846	184368445	6785831	9	4252											
CDH10	1008	broad.mit.edu	37	chr5	24505322	24505322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgaatgaatgttaaagAttctgtcaaggtcagtatgg	10	5	3	3			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr5:24505322A>G	ENST00000264463.4	-	8	1799	c.1292T>C	c.(1291-1293)aTc>aCc	p.I431T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	431	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AATGTTAAAGATTCTGTCAAG	0.368										HNSCC(23;0.051)			False	0	False	5:24505322	0	G	24505322	A	G	24505322	3	3	54	1	0	0	0	0	1	0	0	0	3119	333	12	4	1094	4	CDH10	5	24505322	Missense_Mutation	SNP	A	TCGA-HV-A5A5-01A-11D-A26I-08		24505322	156409938	10	4253											
GLRX	2745	broad.mit.edu	37	chr5	95152244	95152244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagctccaatctgctttagCcgcgtcagcagttccccact	8	15	2	1			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr5:95152244C>T	ENST00000379979.4	-	2	345	c.294G>A	c.(292-294)cgG>cgA	p.R98R	GLRX_ENST00000508780.1_Silent_p.R98R|GLRX_ENST00000505427.1_Silent_p.R98R|GLRX_ENST00000507605.1_5'UTR|GLRX_ENST00000512469.2_Silent_p.R98R|GLRX_ENST00000237858.6_Silent_p.R98R	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	98	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	TCTGCTTTAGCCGCGTCAGCA	0.507													False	0	False	5:95152244	0	T	95152244	C	T	95152244	2	4	54	1	0	0	0	0	0	0	0	1	6504	726	26	2		2	GLRX	5	95152244	Silent	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08	70646922	95152244	85763016	11	4254											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	54	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-HV-A5A5-01A-11D-A26I-08		7393450	163721617	12	4255											
GPLD1	2822	broad.mit.edu	37	chr6	24450108	24450108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtccaacacagccaaggccGagccaaaccgacctgagggc	11	15	0	1	rs149093201		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:24450108G>A	ENST00000230036.1	-	15	1465	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	452						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGCCAAGGCCGAGCCAAACCG	0.622													False	0	False	6:24450108	0	A	24450108	G	A	24450108	3	1	54	1	0	0	0	0	1	0	0	0	6660	1059	37	1	1211	1	GPLD1	6	24450108	Missense_Mutation	SNP	G	TCGA-HV-A5A5-01A-11D-A26I-08	17056658	24450108	146664959	13	4256											
KLHL32	114792	broad.mit.edu	37	chr6	97424015	97424015	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggaacagaaattccatgctCacaaggcagtcctagcagca	9	11	1	1			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:97424015C>A	ENST00000369261.4	+	3	529	c.166C>A	c.(166-168)Cac>Aac	p.H56N	KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000539200.1_Missense_Mutation_p.H56N|KLHL32_ENST00000536676.1_Missense_Mutation_p.H56N	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	56	BTB.									breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		ATTCCATGCTCACAAGGCAGT	0.463													False	0	False	6:97424015	0	A	97424015	C	A	97424015	3	1	54	1	0	0	0	0	1	0	0	0	8436	826	29	3	172	3	KLHL32	6	97424015	Missense_Mutation	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08	72973907	97424015	73691052	14	4257											
SGK1	6446	broad.mit.edu	37	chr6	134491968	134491973	+	In_Frame_Del	DEL	TTTGGG	TTTGGG	-													agagacagatactcaccacaTttgggttaaaagggggagta							TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	TTTGGG	TTTGGG	-	-	TTTGGG	TTTGGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:134491968_134491973delTTTGGG	ENST00000367858.5	-	13	2001_2006	c.1404_1409delCCCAAA	c.(1402-1410)aacccaaat>aat	p.468_470NPN>N	SGK1_ENST00000413996.3_In_Frame_Del_p.387_389NPN>N|SGK1_ENST00000528577.1_In_Frame_Del_p.401_403NPN>N|SGK1_ENST00000475719.2_In_Frame_Del_p.329_331NPN>N|SGK1_ENST00000367857.5_In_Frame_Del_p.363_365NPN>N|SGK1_ENST00000237305.7_In_Frame_Del_p.373_375NPN>N	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	373					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ACTCACCACATTTGGGTTAAAAGGGG	0.388													False	1	True	6:134491968	0	-	134491973	TTTGGG	-	134491968	7	5	54	1	0	1	0	1	0	0	0	0	14288	1493	52	0	179	0	SGK1	6	134491968	In_Frame_Del	DEL	TTTGGG	TCGA-HV-A5A5-01A-11D-A26I-08	37067953	134491968	36623099	15	4258											
IL20RA	53832	broad.mit.edu	37	chr6	137323028	137323028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgagtactgtaacgtttgCgggcccaagactgccaacgc	11	11	0	2			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:137323028C>T	ENST00000367748.1	-	6	1582	c.996G>A	c.(994-996)ccG>ccA	p.P332P	IL20RA_ENST00000316649.5_Silent_p.P443P|IL20RA_ENST00000541547.1_Silent_p.P394P	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	443						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GTAACGTTTGCGGGCCCAAGA	0.587													False	0	True	6:137323028	0	T	137323028	C	T	137323028	2	4	54	1	0	0	0	0	0	0	0	1	7718	755	27	1		1	IL20RA	6	137323028	Silent	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08	2831060	137323028	33792039	16	4259											
TCP10	6953	broad.mit.edu	37	chr6	167789546	167789546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccggagttttgcggacttCgggaagatggatgcataatc	13	8	0	1			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr6:167789546C>T	ENST00000366827.2	-	6	807	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	TCP10_ENST00000397829.4_Missense_Mutation_p.R199Q			Q12799	TCP10_HUMAN	t-complex 10	226						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TTGCGGACTTCGGGAAGATGG	0.612													False	0	True	6:167789546	0	T	167789546	C	T	167789546	3	4	54	1	0	0	0	0	1	0	0	0	15792	884	31	1	396	1	TCP10	6	167789546	Missense_Mutation	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08	30466518	167789546	3325521	17	4260											
CBX3	11335	broad.mit.edu	37	chr7	26246131	26246132	+	Splice_Site	INS	-	-	CTGACAA													agtggaagggatttacagagINStaagaaactttagtgcatct							TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr7:26246131_26246132insCTGACAA	ENST00000337620.4	+	3	595		c.e3+1		CBX3_ENST00000396386.2_Splice_Site|CBX3_ENST00000497498.1_Splice_Site|CBX3_ENST00000409747.1_Splice_Site	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3						chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						GATTTACAGAGTAAGAAACTTT	0.386													False	0	False	7:26246131	0	CTGACAA	26246132	-	CTGACAA	26246131	8	5	54	1	0	1	1	0	0	0	1	0	2739	1043	36	0	174	0	CBX3	7	26246131	Splice_Site	INS	-	TCGA-HV-A5A5-01A-11D-A26I-08		26246131	132892532	18	4261											
CDK6	1021	broad.mit.edu	37	chr7	92462588	92462588	+	Missense_Mutation	SNP	G	G	T													aggcgccctccccgatctccGccacgcattcgtactgctgg							TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr7:92462588G>T	ENST00000265734.4	-	2	461	c.50C>A	c.(49-51)gCg>gAg	p.A17E	CDK6_ENST00000424848.2_Missense_Mutation_p.A17E	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	17	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCCGATCTCCGCCACGCATTC	0.721			T	MLLT10	ALL								False	0	False	7:92462588	0	T	92462588	G	T	92462588	3	4	54	1	0	0	0	0	1	0	0	0	3171	1087	38	3	958	3	CDK6	7	92462588	Missense_Mutation	SNP	G	TCGA-HV-A5A5-01A-11D-A26I-08	66216457	92462588	66676075	19	4262	40	2									
CDK6	1021	broad.mit.edu	37	chr7	92462589	92462589	+	Missense_Mutation	SNP	C	C	T													ggcgccctccccgatctccgCcacgcattcgtactgctggt							TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr7:92462589C>T	ENST00000265734.4	-	2	460	c.49G>A	c.(49-51)Gcg>Acg	p.A17T	CDK6_ENST00000424848.2_Missense_Mutation_p.A17T	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	17	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCGATCTCCGCCACGCATTCG	0.721			T	MLLT10	ALL								False	0	False	7:92462589	0	T	92462589	C	T	92462589	3	4	54	1	0	0	0	0	1	0	0	0	3171	739	26	2	959	2	CDK6	7	92462589	Missense_Mutation	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08	1	92462589	66676074	20	4263	40	2									
IMPDH1	3614	broad.mit.edu	37	chr7	128035057	128035057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtactcgccaggggcctccGtagtggcggccagcagggag	17	12	0	0			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr7:128035057G>A	ENST00000338791.6	-	14	1786	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M	IMPDH1_ENST00000480861.1_Missense_Mutation_p.T389M|IMPDH1_ENST00000348127.6_Missense_Mutation_p.T443M|IMPDH1_ENST00000470772.1_Missense_Mutation_p.T393M|IMPDH1_ENST00000354269.5_Missense_Mutation_p.T469M|IMPDH1_ENST00000496200.1_Missense_Mutation_p.T369M|IMPDH1_ENST00000378717.4_Missense_Mutation_p.T410M|IMPDH1_ENST00000419067.2_Missense_Mutation_p.T446M|IMPDH1_ENST00000343214.4_Missense_Mutation_p.T369M	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	394					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	AGGGGCCTCCGTAGTGGCGGC	0.642													False	0	False	7:128035057	0	A	128035057	G	A	128035057	3	1	54	1	0	0	0	0	1	0	0	0	7776	1145	40	1	379	1	IMPDH1	7	128035057	Missense_Mutation	SNP	G	TCGA-HV-A5A5-01A-11D-A26I-08	35572468	128035057	31103606	21	4264											
LZTS1	11178	broad.mit.edu	37	chr8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-													agctcattctcacagacctcCagctccaggcccttggtgcg					rs148039718	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENST00000381569.1	-	4	1651_1698	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel	p.RTQDLEGALRTKGLEL432del	LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	432					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACAGACCTCCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCTCAGCTCCAGG	0.657													False	1	True	8:20107683	0	-	20107730	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	20107683	7	5	54	1	0	1	0	1	0	0	0	0	9201	581	21	0	453	0	LZTS1	8	20107683	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	TCGA-HV-A5A5-01A-11D-A26I-08		20107683	126256339	22	4265											
DOCK8	81704	broad.mit.edu	37	chr9	428461	428461	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agagtaccacctacctgactCactgctttgcaacactccgt	6	15	1	2			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr9:428461C>G	ENST00000432829.2	+	35	4550	c.4234C>G	c.(4234-4236)Cac>Gac	p.H1412D	DOCK8_ENST00000469391.1_Missense_Mutation_p.H1380D|DOCK8_ENST00000382329.1_Missense_Mutation_p.H947D|DOCK8_ENST00000453981.1_Missense_Mutation_p.H1480D	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1480	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTACCTGACTCACTGCTTTGC	0.483													False	0	False	9:428461	0	G	428461	C	G	428461	3	3	54	1	0	0	0	0	1	0	0	0	4723	826	29	5	4576	5	DOCK8	9	428461	Missense_Mutation	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08		428461	140784970	23	4266											
KIF24	347240	broad.mit.edu	37	chr9	34311094	34311094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaattcctgagatttgatgCgcaggctgcttgtctgaaga	11	7	1	4			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr9:34311094C>T	ENST00000379166.2	-	2	370	c.251G>A	c.(250-252)cGc>cAc	p.R84H	KIF24_ENST00000379174.3_Missense_Mutation_p.R84H|KIF24_ENST00000402558.2_Missense_Mutation_p.R84H|KIF24_ENST00000345050.2_Missense_Mutation_p.R84H	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	84					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGATTTGATGCGCAGGCTGCT	0.418													False	0	False	9:34311094	0	T	34311094	C	T	34311094	3	4	54	1	0	0	0	0	1	0	0	0	8342	768	27	1	3903	1	KIF24	9	34311094	Missense_Mutation	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08	33882633	34311094	106902337	24	4267											
CCDC88B	283234	broad.mit.edu	37	chr11	64116904	64116904	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagcgccaggaatttctGcgagaaaaggaaagccagca	12	10	1	1			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr11:64116904G>C	ENST00000356786.5	+	15	2762	c.2718G>C	c.(2716-2718)ctG>ctC	p.L906L	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.L58L	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	906					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGAATTTCTGCGAGAAAAGG	0.652													False	0	False	11:64116904	0	C	64116904	G	C	64116904	2	2	54	1	0	0	0	0	0	0	0	1	2885	1306	46	5		5	CCDC88B	11	64116904	Silent	SNP	G	TCGA-HV-A5A5-01A-11D-A26I-08		64116904	70889612	25	4268											
MMP13	4322	broad.mit.edu	37	chr11	102816457	102816457	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcggatagtctttatccatAatatggttagtatcatcata	6	7	3	0			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr11:102816457A>T	ENST00000260302.3	-	9	1261	c.1233T>A	c.(1231-1233)atT>atA	p.I411I	MMP13_ENST00000340273.4_Silent_p.I411I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	411	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		CTTTATCCATAATATGGTTAG	0.303													False	0	False	11:102816457	0	T	102816457	A	T	102816457	2	4	54	1	0	0	0	0	0	0	0	1	9719	358	13	5		5	MMP13	11	102816457	Silent	SNP	A	TCGA-HV-A5A5-01A-11D-A26I-08	38699553	102816457	32190059	26	4269											
SIK3	23387	broad.mit.edu	37	chr11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-													ggtattcttgctgttgctgcTgttgctgctgctgctgccgt					rs539858	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q|SIK3_ENST00000488337.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596													False	1	True	11:116729011	0	-	116729013	TGT	-	116729011	7	5	54	1	0	1	0	1	0	0	0	0	14400	1580	55	0	955	0	SIK3	11	116729011	In_Frame_Del	DEL	TGT	TCGA-HV-A5A5-01A-11D-A26I-08	13912554	116729011	18277505	27	4270											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	54	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08		25398284	108453611	28	4271											
ADAMTS20	80070	broad.mit.edu	37	chr12	43886398	43886398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaacaaaagttctttaatGtggtagcaccatcaaaatta	6	6	2	1			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr12:43886398G>A	ENST00000389420.3	-	6	985	c.986C>T	c.(985-987)aCa>aTa	p.T329I	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T329I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	329	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTTCTTTAATGTGGTAGCACC	0.363													False	0	False	12:43886398	0	A	43886398	G	A	43886398	3	1	54	1	0	0	0	0	1	0	0	0	266	1377	48	2	4881	2	ADAMTS20	12	43886398	Missense_Mutation	SNP	G	TCGA-HV-A5A5-01A-11D-A26I-08	18488114	43886398	89965497	29	4272											
KBTBD6	89890	broad.mit.edu	37	chr13	41705969	41705969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtccagactatccaagcGcaggacagccagcagctggg	12	14	0	1			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr13:41705969G>A	ENST00000379485.1	-	1	913	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R161C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	227							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTATCCAAGCGCAGGACAGCC	0.577													False	0	False	13:41705969	0	A	41705969	G	A	41705969	3	1	54	1	0	0	0	0	1	0	0	0	8047	1087	38	1	1349	1	KBTBD6	13	41705969	Missense_Mutation	SNP	G	TCGA-HV-A5A5-01A-11D-A26I-08		41705969	73463909	30	4273											
NEK5	341676	broad.mit.edu	37	chr13	52661584	52661584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctcggcagaagatggacGaagaccctatttattgaatg	12	7	0	4			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr13:52661584G>A	ENST00000355568.4	-	15	1421	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	428							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R485G(1)|p.R428G(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAGATGGACGAAGACCCTAT	0.343													False	0	False	13:52661584	0	A	52661584	G	A	52661584	3	1	54	1	0	0	0	0	1	0	0	0	10395	1058	37	1	876	1	NEK5	13	52661584	Missense_Mutation	SNP	G	TCGA-HV-A5A5-01A-11D-A26I-08	10955615	52661584	62508294	31	4274											
PCK2	5106	broad.mit.edu	37	chr14	24569250	24569250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggcttctttggggttgcCcctggtacctctgccaccac	10	15	2	0			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr14:24569250C>T	ENST00000545054.2	+	7	1578	c.660C>T	c.(658-660)gcC>gcT	p.A220A	PCK2_ENST00000559250.1_Silent_p.A366A|PCK2_ENST00000216780.4_Silent_p.A354A|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Silent_p.A354A|PCK2_ENST00000561286.1_Silent_p.A220A|PCK2_ENST00000558096.1_Silent_p.A220A			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	354					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TTGGGGTTGCCCCTGGTACCT	0.502													False	0	True	14:24569250	0	T	24569250	C	T	24569250	2	4	54	1	0	0	0	0	0	0	0	1	11650	610	22	2		2	PCK2	14	24569250	Silent	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08		24569250	82780290	32	4275											
ASB2	51676	broad.mit.edu	37	chr14	94413764	94413764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggtcttgttggcgtcgGcaccctgtgacagcagaaac	13	10	1	2			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr14:94413764G>A	ENST00000555019.1	-	7	1413	c.983C>T	c.(982-984)gCc>gTc	p.A328V	ASB2_ENST00000315988.4_Missense_Mutation_p.A280V|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	280					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GTTGGCGTCGGCACCCTGTGA	0.617													False	0	False	14:94413764	0	A	94413764	G	A	94413764	3	1	54	1	0	0	0	0	1	0	0	0	1027	1203	42	2	940	2	ASB2	14	94413764	Missense_Mutation	SNP	G	TCGA-HV-A5A5-01A-11D-A26I-08	69844514	94413764	12935776	33	4276											
VKORC1	79001	broad.mit.edu	37	chr16	31102595	31102595	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggatccaggccaggtagaCagaaccagcgagagacacca	12	12	0	3			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr16:31102595C>A	ENST00000319788.7	-	4	644	c.434G>T	c.(433-435)tGt>tTt	p.C145F	VKORC1_ENST00000354895.4_Missense_Mutation_p.C81F|VKORC1_ENST00000498155.1_Missense_Mutation_p.C150F|VKORC1_ENST00000300851.6_Missense_Mutation_p.C138F|VKORC1_ENST00000394971.3_Missense_Mutation_p.C149F|VKORC1_ENST00000394975.2_Missense_Mutation_p.V118F|RP11-196G11.1_ENST00000529564.1_Intron			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GCCAGGTAGACAGAACCAGCG	0.557													False	0	False	16:31102595	0	A	31102595	C	A	31102595	3	1	54	1	0	0	0	0	1	0	0	0	17256	478	17	3	143	3	VKORC1	16	31102595	Missense_Mutation	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08		31102595	59252158	34	4277											
MT1B	4490	broad.mit.edu	37	chr16	56686964	56686964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctcatcagagaagtgccGctgctgtgcctgatgttggg	15	9	2	2			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr16:56686964G>A	ENST00000334346.2	+	3	228	c.173G>A	c.(172-174)cGc>cAc	p.R58H	MT1B_ENST00000562399.1_Silent_p.P57P	NM_005947.2	NP_005938.1	P07438	MT1B_HUMAN	metallothionein 1B	58	Alpha.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						GAGAAGTGCCGCTGCTGTGCC	0.542													False	0	False	16:56686964	0	A	56686964	G	A	56686964	3	1	54	1	0	0	0	0	1	0	0	0	9965	1087	38	1	183	1	MT1B	16	56686964	Missense_Mutation	SNP	G	TCGA-HV-A5A5-01A-11D-A26I-08	25584369	56686964	33667789	35	4278											
SPNS3	201305	broad.mit.edu	37	chr17	4356344	4356344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactgaccatcatgaccggCgtcattggggtcatcttggg	13	11	4	2			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr17:4356344C>T	ENST00000355530.2	+	8	1237	c.957C>T	c.(955-957)ggC>ggT	p.G319G	SPNS3_ENST00000333476.2_Silent_p.G192G|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	319					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TCATGACCGGCGTCATTGGGG	0.567													False	0	False	17:4356344	0	T	4356344	C	T	4356344	2	4	54	1	0	0	0	0	0	0	0	1	15158	755	27	1		1	SPNS3	17	4356344	Silent	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08		4356344	76838866	36	4279											
TP53	7157	broad.mit.edu	37	chr17	7578235	7578235	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtttctgtcatccaaaTactccacacgcaaatttcct	4	12	2	0			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr17:7578235T>A	ENST00000420246.2	-	6	746	c.614A>T	c.(613-615)tAt>tTt	p.Y205F	TP53_ENST00000269305.4_Missense_Mutation_p.Y205F|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y205F|TP53_ENST00000413465.2_Missense_Mutation_p.Y205F|TP53_ENST00000445888.2_Missense_Mutation_p.Y205F|TP53_ENST00000359597.4_Missense_Mutation_p.Y205F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCATCCAAATACTCCACACG	0.542		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)			False	0	True	17:7578235	0	A	7578235	T	A	7578235	3	1	54	1	0	0	0	0	1	0	0	0	16464	1406	49	5	680	5	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-HV-A5A5-01A-11D-A26I-08	3221891	7578235	73616975	37	4280											
ZNF286B	729288	broad.mit.edu	37	chr17	18565373	18565373	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagttctctgatgttgaatAagagctgatgaatgaatgaa	11	3	1	8	rs147985634	by1000genomes	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr17:18565373A>G	ENST00000545289.1	-	5	1696	c.1446T>C	c.(1444-1446)ctT>ctC	p.L482L	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GATGTTGAATAAGAGCTGATG	0.388													False	0	False	17:18565373	0	G	18565373	A	G	18565373	2	3	54	1	0	0	0	0	0	0	0	1	17907	349	13	4		4	ZNF286B	17	18565373	Silent	SNP	A	TCGA-HV-A5A5-01A-11D-A26I-08	10987138	18565373	62629837	38	4281											
CD226	10666	broad.mit.edu	37	chr18	67614045	67614045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcaggaatagtagccaaCatcatcttcagaggcattcc	9	10	3	2			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr18:67614045C>T	ENST00000280200.4	-	3	575	c.307G>A	c.(307-309)Gtt>Att	p.V103I	CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.V103I|CD226_ENST00000581982.1_Intron	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	103	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TAGTAGCCAACATCATCTTCA	0.418													False	0	False	18:67614045	0	T	67614045	C	T	67614045	3	4	54	1	0	0	0	0	1	0	0	0	3009	478	17	2	723	2	CD226	18	67614045	Missense_Mutation	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08		67614045	10463203	39	4282											
LRFN1	57622	broad.mit.edu	37	chr19	39804836	39804836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcacacctccacgggcgCcgtcgcttccccagcagcat	9	20	0	0			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr19:39804836C>T	ENST00000248668.4	-	1	1140	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	381	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCCACGGGCGCCGTCGCTTCC	0.692													False	0	False	19:39804836	0	T	39804836	C	T	39804836	3	4	54	1	0	0	0	0	1	0	0	0	8999	739	26	2	1182	2	LRFN1	19	39804836	Missense_Mutation	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08		39804836	19324147	40	4283											
PSG4	5672	broad.mit.edu	37	chr19	43702149	43702149	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaacagaggatactcacGgaggagattcagggtgactg	16	6	2	3			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr19:43702149G>A	ENST00000405312.3	-	3	946	c.709C>T	c.(709-711)Cca>Tca	p.P237S	PSG4_ENST00000244295.9_Splice_Site_p.H237Y|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	237	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.P237T(1)|p.H237N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGATACTCACGGAGGAGATTC	0.527													False	0	False	19:43702149	0	A	43702149	G	A	43702149	5	1	54	1	0	0	0	0	0	0	1	0	12733	1130	39	1	566	1	PSG4	19	43702149	Splice_Site	SNP	G	TCGA-HV-A5A5-01A-11D-A26I-08	3897313	43702149	15426834	41	4284											
CRKL	1399	broad.mit.edu	37	chr22	21272254	21272254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggttcgactcctcggaccGctccgcctggtatatggggc	13	14	0	0			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chr22:21272254G>A	ENST00000354336.3	+	1	541	c.32G>A	c.(31-33)cGc>cAc	p.R11H		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	11					JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			TCCTCGGACCGCTCCGCCTGG	0.692													False	0	False	22:21272254	0	A	21272254	G	A	21272254	3	1	54	1	0	0	0	0	1	0	0	0	3908	1087	38	1	34	1	CRKL	22	21272254	Missense_Mutation	SNP	G	TCGA-HV-A5A5-01A-11D-A26I-08		21272254	30032312	42	4285											
PHKA2	5256	broad.mit.edu	37	chrX	18956750	18956750	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagcattttctcacctgaaCagcatcaccactgaagactc	5	15	2	3			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:18956750C>G	ENST00000379942.4	-	10	1701	c.1036G>C	c.(1036-1038)Gtt>Ctt	p.V346L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	346					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CTCACCTGAACAGCATCACCA	0.368													False	0	False	X:18956750	0	G	18956750	C	G	18956750	3	3	54	1	0	0	0	0	1	0	0	0	11913	478	17	5	2767	5	PHKA2	23	18956750	Missense_Mutation	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08		18956750	136313810	43	4286											
MAP3K15	389840	broad.mit.edu	37	chrX	19392682	19392682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctcagcagtggtggcacGtttgtgggggtcaggctcga	17	8	2	0			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:19392682G>A	ENST00000338883.4	-	20	2685	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	MAP3K15_ENST00000359173.3_Missense_Mutation_p.R331C|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R728C|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	896	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GTGGTGGCACGTTTGTGGGGG	0.537													False	0	True	X:19392682	0	A	19392682	G	A	19392682	3	1	54	1	0	0	0	0	1	0	0	0	9316	1145	40	1	1295	1	MAP3K15	23	19392682	Missense_Mutation	SNP	G	TCGA-HV-A5A5-01A-11D-A26I-08	435932	19392682	135877878	44	4287											
GAGE2A	729447	broad.mit.edu	37	chrX	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagctgctcaggagggaCaggatgagggagcatctgca	16	9	2	1	rs147803166	by1000genomes	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562													False	0	False	X:49355893	0	G	49355893	C	G	49355893	3	3	54	1	0	0	0	0	1	0	0	0	6232	479	17	5	1282	5	GAGE2A	23	49355893	Missense_Mutation	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08	29963211	49355893	105914667	45	4288											
GPR174	84636	broad.mit.edu	37	chrX	78426854	78426854	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcagtgtgcgacgatTttggtttctcatgtacccct	9	11	2	0			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:78426854T>A	ENST00000276077.1	+	1	386	c.350T>A	c.(349-351)tTt>tAt	p.F117Y		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	117						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GTGCGACGATTTTGGTTTCTC	0.468										HNSCC(63;0.18)			False	0	True	X:78426854	0	A	78426854	T	A	78426854	3	1	54	1	0	0	0	0	1	0	0	0	6718	1841	64	5	352	5	GPR174	23	78426854	Missense_Mutation	SNP	T	TCGA-HV-A5A5-01A-11D-A26I-08	29070961	78426854	76843706	46	4289											
POF1B	79983	broad.mit.edu	37	chrX	84560887	84560887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcatccattttagcctgCaacattgggcctgtgcaagt	8	11	1	0			TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:84560887C>T	ENST00000262753.4	-	13	1492	c.1347G>A	c.(1345-1347)ttG>ttA	p.L449L	POF1B_ENST00000373145.3_Silent_p.L449L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	449							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTTAGCCTGCAACATTGGGC	0.388													False	0	False	X:84560887	0	T	84560887	C	T	84560887	2	4	54	1	0	0	0	0	0	0	0	1	12251	709	25	2		2	POF1B	23	84560887	Silent	SNP	C	TCGA-HV-A5A5-01A-11D-A26I-08	6134033	84560887	70709673	47	4290											
IRS4	8471	broad.mit.edu	37	chrX	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-													ctgctgctagagctgccgctGccgccgctgctgcacctctt					rs2073114	byFrequency	TCGA-HV-A5A5-01A-11D-A26I-08	TCGA-HV-A5A5-10A-01D-A26I-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	750ef0d5-c92c-4c0f-98f1-c69d1f32a5ab	42147311-f42e-4455-ad47-13f586fdca52	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616													False	2	True	X:107979510	0	-	107979512	GCC	-	107979510	7	5	54	1	0	1	0	1	0	0	0	0	7892	1319	46	0	3712	0	IRS4	23	107979510	In_Frame_Del	DEL	GCC	TCGA-HV-A5A5-01A-11D-A26I-08	23418623	107979510	47291050	48	4291											
SPEN	23013	broad.mit.edu	37	chr1	16262018	16262018	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccctgagccacctctccCagggcgaggtgagaatgaac	12	13	1	3			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:16262018C>T	ENST00000375759.3	+	11	9487	c.9283C>T	c.(9283-9285)Cag>Tag	p.Q3095*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3095					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCACCTCTCCCAGGGCGAGGT	0.617													False	0	True	1:16262018	0	T	16262018	C	T	16262018	4	4	55	1	0	0	0	0	0	1	0	0	15120	595	21	2	9325	2	SPEN	1	16262018	Nonsense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08		16262018	232988603	1	4292											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	55	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-HV-A5A6-01A-11D-A26I-08	6725367	22987385	226263236	2	4293											
LUZP1	7798	broad.mit.edu	37	chr1	23420022	23420022	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggcagtgtggaagagatgcCatcctcaatccgtaggtcat	12	10	2	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:23420022C>G	ENST00000302291.4	-	4	1534	c.733G>C	c.(733-735)Ggc>Cgc	p.G245R	LUZP1_ENST00000418342.1_Missense_Mutation_p.G245R|LUZP1_ENST00000314174.5_Missense_Mutation_p.G245R|LUZP1_ENST00000374623.3_Missense_Mutation_p.G245R			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	245						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GAAGAGATGCCATCCTCAATC	0.393													False	0	False	1:23420022	0	G	23420022	C	G	23420022	3	3	55	1	0	0	0	0	1	0	0	0	9148	594	21	5	2505	5	LUZP1	1	23420022	Missense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	432637	23420022	225830599	3	4294											
LPPR4	0	broad.mit.edu	37	chr1	99762345	99762345	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctctccaaaagaagaaatGgggtcggactagagcccaac	11	11	1	3			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:99762345G>C	ENST00000370185.3	+	3	957	c.460G>C	c.(460-462)Ggg>Cgg	p.G154R	LPPR4_ENST00000457765.1_Missense_Mutation_p.G154R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		154							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AAGAAGAAATGGGGTCGGACT	0.463													False	0	True	1:99762345	0	C	99762345	G	C	99762345	3	2	55	1	0	0	0	0	1	0	0	0	8989	1348	47	5	470	5	LPPR4	1	99762345	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	76342323	99762345	149488276	4	4295											
CEPT1	10390	broad.mit.edu	37	chr1	111702113	111702113	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atagtagttctcctctgggaGaactttttgatcatggctgt	10	7	3	2			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:111702113G>T	ENST00000545121.1	+	3	659	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	CEPT1_ENST00000357172.4_Nonsense_Mutation_p.E151*	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	151						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TCCTCTGGGAGAACTTTTTGA	0.378													False	0	False	1:111702113	0	T	111702113	G	T	111702113	4	4	55	1	0	0	0	0	0	1	0	0	3287	943	33	3	457	3	CEPT1	1	111702113	Nonsense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	11939768	111702113	137548508	5	4296											
CAPZA1	829	broad.mit.edu	37	chr1	113162484	113162484	+	Missense_Mutation	SNP	T	T	A													aagatggccgacttcgatgaTcgtgtgtcggatgaggagaa							TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:113162484T>A	ENST00000263168.3	+	1	690	c.18T>A	c.(16-18)gaT>gaA	p.D6E	ST7L_ENST00000463235.1_Intron|CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	6					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTCGATGATCGTGTGTCGG	0.672													False	0	False	1:113162484	0	A	113162484	T	A	113162484	3	1	55	1	0	0	0	0	1	0	0	0	2660	1432	50	5	20	5	CAPZA1	1	113162484	Missense_Mutation	SNP	T	TCGA-HV-A5A6-01A-11D-A26I-08	1460371	113162484	136088137	6	4297	41	2									
CAPZA1	829	broad.mit.edu	37	chr1	113162485	113162485	+	Missense_Mutation	SNP	C	C	T													agatggccgacttcgatgatCgtgtgtcggatgaggagaag							TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:113162485C>T	ENST00000263168.3	+	1	691	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	ST7L_ENST00000463235.1_Intron|CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	7					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCGATGATCGTGTGTCGGA	0.667													False	0	True	1:113162485	0	T	113162485	C	T	113162485	3	4	55	1	0	0	0	0	1	0	0	0	2660	884	31	1	21	1	CAPZA1	1	113162485	Missense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	1	113162485	136088136	7	4298	41	2									
TUFT1	7286	broad.mit.edu	37	chr1	151552137	151552137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcagctccagaattcaAaagctgtgatccagtcaaag	8	10	2	2			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:151552137A>G	ENST00000368849.3	+	11	999	c.937A>G	c.(937-939)Aaa>Gaa	p.K313E	TUFT1_ENST00000353024.3_Missense_Mutation_p.K254E|TUFT1_ENST00000538902.1_Missense_Mutation_p.K332E|TUFT1_ENST00000368848.2_Missense_Mutation_p.K288E|TUFT1_ENST00000392712.3_Missense_Mutation_p.K258E	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	313					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGAATTCAAAAGCTGTGAT	0.547													False	0	True	1:151552137	0	G	151552137	A	G	151552137	3	3	55	1	0	0	0	0	1	0	0	0	16856	15	1	4	979	4	TUFT1	1	151552137	Missense_Mutation	SNP	A	TCGA-HV-A5A6-01A-11D-A26I-08	38389652	151552137	97698484	8	4299											
NFASC	23114	broad.mit.edu	37	chr1	204957892	204957892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggacgcaggtgggctctGgggaagccgtcacagaggag	18	10	2	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:204957892G>A	ENST00000367172.4	+	25	3374	c.3046G>A	c.(3046-3048)Ggg>Agg	p.G1016R	NFASC_ENST00000367171.4_Missense_Mutation_p.G1001R|NFASC_ENST00000339876.6_Missense_Mutation_p.G909R|NFASC_ENST00000338586.6_Missense_Mutation_p.G1016R|NFASC_ENST00000404076.1_Missense_Mutation_p.G995R|NFASC_ENST00000539706.1_Missense_Mutation_p.G1012R|NFASC_ENST00000404907.1_Missense_Mutation_p.G1012R|NFASC_ENST00000367169.4_Missense_Mutation_p.G909R|NFASC_ENST00000401399.1_Missense_Mutation_p.G909R|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367170.4_Missense_Mutation_p.G1016R|NFASC_ENST00000338515.6_Missense_Mutation_p.G1016R|NFASC_ENST00000513543.1_Missense_Mutation_p.G1012R|NFASC_ENST00000360049.4_Missense_Mutation_p.G1012R			O94856	NFASC_HUMAN	neurofascin	1016	Fibronectin type-III 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGTGGGCTCTGGGGAAGCCGT	0.592													False	0	True	1:204957892	0	A	204957892	G	A	204957892	3	1	55	1	0	0	0	0	1	0	0	0	10427	1348	47	2	3220	2	NFASC	1	204957892	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	53405755	204957892	44292729	9	4300											
KCNH1	3756	broad.mit.edu	37	chr1	210856924	210856924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcacccacgttgtccaggCgcaagtcgctcttggtgatg	11	14	2	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:210856924C>T	ENST00000367007.4	-	11	2757	c.2588G>A	c.(2587-2589)cGc>cAc	p.R863H	KCNH1_ENST00000271751.4_Missense_Mutation_p.R890H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	890					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTTGTCCAGGCGCAAGTCGCT	0.592													False	0	False	1:210856924	0	T	210856924	C	T	210856924	3	4	55	1	0	0	0	0	1	0	0	0	8081	768	27	1	304	1	KCNH1	1	210856924	Missense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	5899032	210856924	38393697	10	4301											
OR2T4	127074	broad.mit.edu	37	chr1	248525639	248525639	+	Frame_Shift_Del	DEL	A	A	-													tttcaagctcctatttactcAtcctcctcaccatccacggg					rs34079073		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr1:248525639delA	ENST00000366475.1	+	1	757	c.757delA	c.(757-759)atcfs	p.I253fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTATTTACTCATCCTCCTCAC	0.522													False	1	False	1:248525639	0	-	248525639	A	-	248525639	7	5	55	1	0	1	0	1	0	0	0	0	11095	217	8	0	759	0	OR2T4	1	248525639	Frame_Shift_Del	DEL	A	TCGA-HV-A5A6-01A-11D-A26I-08	37668715	248525639	724982	11	4302											
C2orf44	80304	broad.mit.edu	37	chr2	24262175	24262175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacaggtggggcccaggAcaacccacagacacattcaa	10	13	1	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:24262175A>G	ENST00000295148.4	-	2	247	c.190T>C	c.(190-192)Tcc>Ccc	p.S64P	C2orf44_ENST00000406895.3_Missense_Mutation_p.S64P	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	64							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGCCCAGGACAACCCACAG	0.517			T	ALK	NSCLC								False	0	False	2:24262175	0	G	24262175	A	G	24262175	3	3	55	1	0	0	0	0	1	0	0	0	2184	275	10	4	1987	4	C2orf44	2	24262175	Missense_Mutation	SNP	A	TCGA-HV-A5A6-01A-11D-A26I-08		24262175	218937198	12	4303											
CAD	790	broad.mit.edu	37	chr2	27449518	27449518	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccctttgcctgagctcagGtacgaggatgagggagatat	13	8	1	3			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:27449518G>A	ENST00000264705.4	+	14	2318		c.e14+1		CAD_ENST00000403525.1_Splice_Site	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase						'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTGAGCTCAGGTACGAGGATG	0.542													False	0	False	2:27449518	0	A	27449518	G	A	27449518	5	1	55	1	0	0	0	0	0	0	1	0	2585	1275	44	2	2211	2	CAD	2	27449518	Splice_Site	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	3187343	27449518	215749855	13	4304											
NCKAP5	344148	broad.mit.edu	37	chr2	133542913	133542913	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagctctggtttggaaCtgcttggagcaatgctaagg	13	9	1	0			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:133542913C>A	ENST00000409261.1	-	14	1844	c.1471G>T	c.(1471-1473)Gtt>Ttt	p.V491F	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.V491F|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	491							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGTTTGGAACTGCTTGGAGC	0.502													False	0	False	2:133542913	0	A	133542913	C	A	133542913	3	1	55	1	0	0	0	0	1	0	0	0	10291	565	20	3	4286	3	NCKAP5	2	133542913	Missense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	106093395	133542913	109656460	14	4305											
B3GALT1	8708	broad.mit.edu	37	chr2	168726199	168726199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaccgattcgggatgtccGcagtaagtggtatatgccca	13	9	0	0	rs148250645	by1000genomes	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr2:168726199G>A	ENST00000392690.3	+	1	742	c.650G>A	c.(649-651)cGc>cAc	p.R217H	AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.R217H			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1						lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CGGGATGTCCGCAGTAAGTGG	0.453													False	0	False	2:168726199	0	A	168726199	G	A	168726199	3	1	55	1	0	0	0	0	1	0	0	0	1251	1087	38	1	652	1	B3GALT1	2	168726199	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	35183286	168726199	74473174	15	4306											
ZNF860	344787	broad.mit.edu	37	chr3	32032006	32032006	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ataaggcaattcatactggaGagaaaccttacaagtgtaat	8	6	1	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr3:32032006G>C	ENST00000360311.4	+	2	1984	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TCATACTGGAGAGAAACCTTA	0.418													False	0	True	3:32032006	0	C	32032006	G	C	32032006	3	2	55	1	0	0	0	0	1	0	0	0	18276	943	33	5	1437	5	ZNF860	3	32032006	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08		32032006	165990424	16	4307											
ECT2	1894	broad.mit.edu	37	chr3	172534509	172534509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcattctctttctccaaaaCtccaaaaagagctcttcgaa	4	12	3	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr3:172534509C>T	ENST00000417960.1	+	24	2918	c.2441C>T	c.(2440-2442)aCt>aTt	p.T814I	ECT2_ENST00000232458.5_Missense_Mutation_p.T815I|ECT2_ENST00000427830.1_Missense_Mutation_p.T815I|ECT2_ENST00000540509.1_Missense_Mutation_p.T846I|ECT2_ENST00000441497.2_Missense_Mutation_p.T815I|ECT2_ENST00000392692.3_Missense_Mutation_p.T846I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	815					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTCTCCAAAACTCCAAAAAGA	0.378													False	0	True	3:172534509	0	T	172534509	C	T	172534509	3	4	55	1	0	0	0	0	1	0	0	0	4931	565	20	2	2530	2	ECT2	3	172534509	Missense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	140502503	172534509	25487921	17	4308											
KLHL5	51088	broad.mit.edu	37	chr4	39083623	39083623	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gataatattgagtgcctgttAtctacagcttgccttcttca	7	9	3	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr4:39083623A>T	ENST00000261425.3	+	5	896	c.744A>T	c.(742-744)ttA>ttT	p.L248F	KLHL5_ENST00000381930.3_Missense_Mutation_p.L294F|KLHL5_ENST00000504108.1_Missense_Mutation_p.L294F|KLHL5_ENST00000261426.5_Missense_Mutation_p.L233F|KLHL5_ENST00000508137.2_Missense_Mutation_p.L107F|KLHL5_ENST00000359687.2_Missense_Mutation_p.L294F	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	294	BTB.					cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGTGCCTGTTATCTACAGCTT	0.343													False	0	False	4:39083623	0	T	39083623	A	T	39083623	3	4	55	1	0	0	0	0	1	0	0	0	8442	446	16	5	896	5	KLHL5	4	39083623	Missense_Mutation	SNP	A	TCGA-HV-A5A6-01A-11D-A26I-08		39083623	152070653	18	4309											
LRIT3	345193	broad.mit.edu	37	chr4	110791281	110791281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggtggcaaagaatggaaGtaagcttcctccagccagca	11	9	0	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr4:110791281G>A	ENST00000327908.3	+	4	1591	c.827G>A	c.(826-828)aGt>aAt	p.S276N	LRIT3_ENST00000409621.2_Missense_Mutation_p.S276N|LRIT3_ENST00000379920.3_Missense_Mutation_p.S414N|LRIT3_ENST00000594814.1_Missense_Mutation_p.S459N			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	414	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AAGAATGGAAGTAAGCTTCCT	0.468													False	0	False	4:110791281	0	A	110791281	G	A	110791281	3	1	55	1	0	0	0	0	1	0	0	0	9011	1029	36	2	1251	2	LRIT3	4	110791281	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	71707658	110791281	80362995	19	4310											
C4orf21	55345	broad.mit.edu	37	chr4	113511003	113511003	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtagaaacagggctcaatgTagagatgttttcttctggtg	13	5	3	2			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr4:113511003T>A	ENST00000505019.1	-	11	3129	c.3004A>T	c.(3004-3006)Aca>Tca	p.T1002S	C4orf21_ENST00000309071.5_Missense_Mutation_p.T1002S	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	1002										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GGGCTCAATGTAGAGATGTTT	0.358													False	0	False	4:113511003	0	A	113511003	T	A	113511003	3	1	55	1	0	0	0	0	1	0	0	0	2271	1638	57	5	3382	5	C4orf21	4	113511003	Missense_Mutation	SNP	T	TCGA-HV-A5A6-01A-11D-A26I-08	2719722	113511003	77643273	20	4311											
AHRR	57491	broad.mit.edu	37	chr5	434610	434610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcaacaggtgtacatctcGcacctggggcacggcgtgcg	15	13	1	0			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:434610G>A	ENST00000316418.5	+	12	1865	c.1821G>A	c.(1819-1821)tcG>tcA	p.S607S	AHRR_ENST00000512529.1_Silent_p.S435S|AHRR_ENST00000506456.1_Silent_p.S445S|AHRR_ENST00000505113.1_Silent_p.S589S	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	589	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGTACATCTCGCACCTGGGGC	0.667													False	0	False	5:434610	0	A	434610	G	A	434610	2	1	55	1	0	0	0	0	0	0	0	1	417	1074	38	1		1	AHRR	5	434610	Silent	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08		434610	180480650	21	4312											
CDH9	1007	broad.mit.edu	37	chr5	26889954	26889954	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttatttacctgcccaggTtttgcattttcacaaacaaa	4	9	1	0			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:26889954T>C	ENST00000231021.4	-	9	1675	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	501	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCTGCCCAGGTTTTGCATTTT	0.308													False	0	True	5:26889954	0	C	26889954	T	C	26889954	2	2	55	1	0	0	0	0	0	0	0	1	3140	1722	60	4		4	CDH9	5	26889954	Silent	SNP	T	TCGA-HV-A5A6-01A-11D-A26I-08	26455344	26889954	154025306	22	4313											
PCDHGB7	0	broad.mit.edu	37	chr5	140798705	140798705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatcgcagccacagacAggggcaagcctccgttatcc	9	16	1	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:140798705A>G	ENST00000398594.2	+	1	1279	c.1279A>G	c.(1279-1281)Agg>Ggg	p.R427G	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCACAGACAGGGGCAAGCC	0.512													False	0	True	5:140798705	0	G	140798705	A	G	140798705	3	3	55	1	0	0	0	0	1	0	0	0	11636	179	7	4	1281	4	PCDHGB7	5	140798705	Missense_Mutation	SNP	A	TCGA-HV-A5A6-01A-11D-A26I-08	113908751	140798705	40116555	23	4314											
KIF4B	285643	broad.mit.edu	37	chr5	154394186	154394186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaaggctgaaggggatcGtctaaaagagggtattaata	12	5	1	2			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr5:154394186G>A	ENST00000435029.4	+	1	927	c.767G>A	c.(766-768)cGt>cAt	p.R256H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	256	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAAGGGGATCGTCTAAAAGAG	0.438													False	0	False	5:154394186	0	A	154394186	G	A	154394186	3	1	55	1	0	0	0	0	1	0	0	0	8354	1145	40	1	769	1	KIF4B	5	154394186	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	13595481	154394186	26521074	24	4315											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	55	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-HV-A5A6-01A-11D-A26I-08		7393450	163721617	25	4316											
JARID2	3720	broad.mit.edu	37	chr6	15497190	15497190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctacatcgagtcggtccgCgctcaggtggagaagttcgg	14	10	2	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr6:15497190C>T	ENST00000341776.2	+	7	1978	c.1734C>T	c.(1732-1734)cgC>cgT	p.R578R	JARID2_ENST00000541660.1_Silent_p.R540R|JARID2_ENST00000397311.3_Silent_p.R406R	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	578	JmjN.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGTCGGTCCGCGCTCAGGTGG	0.652													False	0	False	6:15497190	0	T	15497190	C	T	15497190	2	4	55	1	0	0	0	0	0	0	0	1	7995	755	27	1		1	JARID2	6	15497190	Silent	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	8103740	15497190	155617877	26	4317											
TTBK1	84630	broad.mit.edu	37	chr6	43251409	43251409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggagggggcccgagcGcccctggagaacggcctcgc	19	13	0	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr6:43251409G>A	ENST00000259750.4	+	14	3014	c.2931G>A	c.(2929-2931)gcG>gcA	p.A977A		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	977						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGCCCGAGCGCCCCTGGAGA	0.697													False	0	True	6:43251409	0	A	43251409	G	A	43251409	2	1	55	1	0	0	0	0	0	0	0	1	16760	1074	38	1		1	TTBK1	6	43251409	Silent	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	27754219	43251409	127863658	27	4318											
MTO1	25821	broad.mit.edu	37	chr6	74210401	74210401	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcggctatgaatgaatcAtccaagactgatcaatactt	7	9	2	4			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr6:74210401A>G	ENST00000498286.1	+	12	2299	c.2022A>G	c.(2020-2022)tcA>tcG	p.S674S	MTO1_ENST00000415954.2_Silent_p.S714S|MTO1_ENST00000370305.1_Silent_p.S625S|MTO1_ENST00000370300.4_Silent_p.S699S			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	699					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TGAATGAATCATCCAAGACTG	0.398													False	0	False	6:74210401	0	G	74210401	A	G	74210401	2	3	55	1	0	0	0	0	0	0	0	1	10020	204	8	4		4	MTO1	6	74210401	Silent	SNP	A	TCGA-HV-A5A6-01A-11D-A26I-08	30958992	74210401	96904666	28	4319											
CHST12	55501	broad.mit.edu	37	chr7	2473140	2473140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgcccgcctcggcgcGcgaggccttccgcgctggcc	14	20	0	0			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:2473140G>A	ENST00000258711.6	+	2	1001	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	289					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCCTCGGCGCGCGAGGCCTTC	0.652													False	0	True	7:2473140	0	A	2473140	G	A	2473140	3	1	55	1	0	0	0	0	1	0	0	0	3423	1087	38	1	868	1	CHST12	7	2473140	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08		2473140	156665523	29	4320											
FAM126A	84668	broad.mit.edu	37	chr7	23000935	23000935	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagctagatcccattctccAttataactataaaattagat	4	8	1	3			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:23000935A>G	ENST00000432176.2	-	9	982	c.750T>C	c.(748-750)aaT>aaC	p.N250N	FAM126A_ENST00000409923.1_Silent_p.N250N|FAM126A_ENST00000498833.1_5'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	250						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CCCATTCTCCATTATAACTAT	0.294													False	0	False	7:23000935	0	G	23000935	A	G	23000935	2	3	55	1	0	0	0	0	0	0	0	1	5465	214	8	4		4	FAM126A	7	23000935	Silent	SNP	A	TCGA-HV-A5A6-01A-11D-A26I-08	20527795	23000935	136137728	30	4321											
OR2A14	135941	broad.mit.edu	37	chr7	143826995	143826995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtacatggcccccaagtccCgccatcctgaggagcagcag	11	16	0	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr7:143826995C>T	ENST00000408899.2	+	1	845	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCCCAAGTCCCGCCATCCTGA	0.542													False	0	True	7:143826995	0	T	143826995	C	T	143826995	3	4	55	1	0	0	0	0	1	0	0	0	11044	652	23	1	792	1	OR2A14	7	143826995	Missense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	120826060	143826995	15311668	31	4322											
AP3M2	10947	broad.mit.edu	37	chr8	42023053	42023053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggaaacttccgcctgCtgtcttaccatgtcagtgca	9	12	2	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr8:42023053C>T	ENST00000518421.1	+	7	1069	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Silent_p.L260L|AP3M2_ENST00000517922.1_Silent_p.L260L|AP3M2_ENST00000396926.3_Silent_p.L260L	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	260	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CTTCCGCCTGCTGTCTTACCA	0.453													False	0	False	8:42023053	0	T	42023053	C	T	42023053	2	4	55	1	0	0	0	0	0	0	0	1	750	796	28	2		2	AP3M2	8	42023053	Silent	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08		42023053	104340969	32	4323											
WDR11	55717	broad.mit.edu	37	chr10	122626196	122626196	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgtcaatgagaatgcAgccgccctcgtagtgagtga	12	10	1	3			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr10:122626196A>T	ENST00000263461.6	+	8	1356	c.1110A>T	c.(1108-1110)gcA>gcT	p.A370A		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	370						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGAGAATGCAGCCGCCCTCG	0.473													False	0	False	10:122626196	0	T	122626196	A	T	122626196	2	4	55	1	0	0	0	0	0	0	0	1	17357	175	7	5		5	WDR11	10	122626196	Silent	SNP	A	TCGA-HV-A5A6-01A-11D-A26I-08		122626196	12908551	33	4324											
PTPN5	84867	broad.mit.edu	37	chr11	18763931	18763931	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtccaggaagtcatcctcGatcttctcctccatccactc	6	16	3	0			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:18763931G>A	ENST00000396170.1	-	7	1771	c.507C>T	c.(505-507)atC>atT	p.I169I	PTPN5_ENST00000358540.2_Silent_p.I201I|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Silent_p.I177I|PTPN5_ENST00000396171.4_Silent_p.I201I|PTPN5_ENST00000396167.2_Silent_p.I169I|PTPN5_ENST00000477854.1_Silent_p.I5I	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	201						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						AGTCATCCTCGATCTTCTCCT	0.617													False	0	False	11:18763931	0	A	18763931	G	A	18763931	2	1	55	1	0	0	0	0	0	0	0	1	12870	1048	37	1		1	PTPN5	11	18763931	Silent	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08		18763931	116242585	34	4325											
AHNAK	79026	broad.mit.edu	37	chr11	62299013	62299013	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcatattctccctttactTtaggacctttcatatgcaag	4	10	3	0			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:62299013T>G	ENST00000378024.4	-	5	3150	c.2876A>C	c.(2875-2877)aAa>aCa	p.K959T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	959					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCCTTTACTTTAGGACCTTT	0.483													False	0	True	11:62299013	0	G	62299013	T	G	62299013	3	3	55	1	0	0	0	0	1	0	0	0	414	1841	64	4	14916	4	AHNAK	11	62299013	Missense_Mutation	SNP	T	TCGA-HV-A5A6-01A-11D-A26I-08	43535082	62299013	72707503	35	4326											
SF1	7536	broad.mit.edu	37	chr11	64533556	64533556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggctcctggagaagctgCggcagccgcctgctgctgtt	16	12	0	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:64533556C>T	ENST00000377390.3	-	13	1991	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000377394.3_Intron|SF1_ENST00000227503.9_Intron|SF1_ENST00000433274.2_Missense_Mutation_p.A526T|SF1_ENST00000334944.5_Missense_Mutation_p.A552T	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	552	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGAGAAGCTGCGGCAGCCGCC	0.682													False	0	False	11:64533556	0	T	64533556	C	T	64533556	3	4	55	1	0	0	0	0	1	0	0	0	14226	768	27	1	403	1	SF1	11	64533556	Missense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	2234543	64533556	70472960	36	4327											
ATG2A	23130	broad.mit.edu	37	chr11	64678283	64678283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctctgccctcacctccGtgtactcaggctcagaggtg	10	16	4	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:64678283G>A	ENST00000421419.2	-	11	1724	c.1610C>T	c.(1609-1611)aCg>aTg	p.T537M	ATG2A_ENST00000377264.3_Missense_Mutation_p.T537M			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	537							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCTCACCTCCGTGTACTCAGG	0.677													False	0	False	11:64678283	0	A	64678283	G	A	64678283	3	1	55	1	0	0	0	0	1	0	0	0	1097	1145	40	1	4330	1	ATG2A	11	64678283	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	144727	64678283	70328233	37	4328											
ADRBK1	156	broad.mit.edu	37	chr11	67048254	67048254	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtggagctcaacatccaCgtgagtgggcttgggtgggg	17	7	1	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:67048254C>T	ENST00000308595.5	+	7	845	c.555C>T	c.(553-555)caC>caT	p.H185H	ADRBK1_ENST00000526285.1_Splice_Site_p.H185H	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	185	N-terminal.			SDKFTRFCQWKNVELNIH -> RISSHGFASGRMWSSTST (in Ref. 3; AAB60689).	activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCAACATCCACGTGAGTGGGC	0.597													False	0	False	11:67048254	0	T	67048254	C	T	67048254	5	4	55	1	0	0	0	0	0	0	1	0	343	550	19	1	581	1	ADRBK1	11	67048254	Splice_Site	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	2369971	67048254	67958262	38	4329											
USP28	57646	broad.mit.edu	37	chr11	113675589	113675589	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgaatattctcttctcaCctttcatcatagctaagatt	3	11	4	2			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr11:113675589C>T	ENST00000003302.4	-	20	2648		c.e20+1		USP28_ENST00000544967.1_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000260188.5_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCTCTTCTCACCTTTCATCAT	0.428													False	0	False	11:113675589	0	T	113675589	C	T	113675589	5	4	55	1	0	0	0	0	0	0	1	0	17142	521	18	2	677	2	USP28	11	113675589	Splice_Site	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	46627335	113675589	21330927	39	4330											
VWF	7450	broad.mit.edu	37	chr12	6080794	6080794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagactgggagtccccccGcggtgagccagtcaccacct	13	15	1	2			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:6080794G>A	ENST00000261405.5	-	44	7773	c.7519C>T	c.(7519-7521)Cgg>Tgg	p.R2507W		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2507					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GAGTCCCCCCGCGGTGAGCCA	0.612													False	0	True	12:6080794	0	A	6080794	G	A	6080794	3	1	55	1	0	0	0	0	1	0	0	0	17330	1086	38	1	958	1	VWF	12	6080794	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08		6080794	127771101	40	4331											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	55	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	19317490	25398284	108453611	41	4332											
IFT81	28981	broad.mit.edu	37	chr12	110655943	110655943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggaacaattaatggaatGtaagaaacagtgctttctga	9	4	1	2	rs150790899	by1000genomes	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:110655943G>A	ENST00000242591.5	+	19	2449	c.1943G>A	c.(1942-1944)tGt>tAt	p.C648Y	IFT81_ENST00000552912.1_Missense_Mutation_p.C648Y	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	648					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TTAATGGAATGTAAGAAACAG	0.388													False	0	False	12:110655943	0	A	110655943	G	A	110655943	3	1	55	1	0	0	0	0	1	0	0	0	7615	1377	48	2	2125	2	IFT81	12	110655943	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	85257659	110655943	23195952	42	4333											
PIWIL1	9271	broad.mit.edu	37	chr12	130827607	130827607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaattatttggccgtggaCggcagagaggaacagcagga	17	6	0	1	rs144603967	by1000genomes	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr12:130827607C>T	ENST00000245255.3	+	3	423	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	51					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGGCCGTGGACGGCAGAGAGG	0.443													False	0	False	12:130827607	0	T	130827607	C	T	130827607	3	4	55	1	0	0	0	0	1	0	0	0	12026	527	19	1	157	1	PIWIL1	12	130827607	Missense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	20171664	130827607	3024288	43	4334											
EXOC5	10640	broad.mit.edu	37	chr14	57698417	57698417	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attaaactccatcagcttgcTggaaagattggtggttcttt	9	7	2	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr14:57698417T>A	ENST00000413566.2	-	11	1314	c.955A>T	c.(955-957)Agc>Tgc	p.S319C	EXOC5_ENST00000340918.7_Missense_Mutation_p.S254C	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	319					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATCAGCTTGCTGGAAAGATTG	0.303													False	0	False	14:57698417	0	A	57698417	T	A	57698417	3	1	55	1	0	0	0	0	1	0	0	0	5339	1580	55	5	1203	5	EXOC5	14	57698417	Missense_Mutation	SNP	T	TCGA-HV-A5A6-01A-11D-A26I-08		57698417	49651123	44	4335											
AHNAK2	113146	broad.mit.edu	37	chr14	105420573	105420573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcctgaggggttccctcGcaaagtctagggtcaccgag	12	13	2	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr14:105420573G>A	ENST00000333244.5	-	7	1334	c.1215C>T	c.(1213-1215)tgC>tgT	p.C405C		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	405						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGTTCCCTCGCAAAGTCTAG	0.622													False	0	False	14:105420573	0	A	105420573	G	A	105420573	2	1	55	1	0	0	0	0	0	0	0	1	415	1079	38	1		1	AHNAK2	14	105420573	Silent	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	47722156	105420573	1928967	45	4336											
PGPEP1L	145814	broad.mit.edu	37	chr15	99512680	99512680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctcgggaaaagatcacGtcgacaccctccacagctac	8	15	2	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr15:99512680G>A	ENST00000535714.1	-	4	988	c.183C>T	c.(181-183)gaC>gaT	p.D61D	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000378919.6_Silent_p.D115D	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	115					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						AAAAGATCACGTCGACACCCT	0.632													False	0	False	15:99512680	0	A	99512680	G	A	99512680	2	1	55	1	0	0	0	0	0	0	0	1	11873	1136	40	1		1	PGPEP1L	15	99512680	Silent	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08		99512680	3018712	46	4337											
MEFV	4210	broad.mit.edu	37	chr16	3293394	3293394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacgctggacgcctggtacTcattttccttcatcattatc	7	12	3	0			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:3293394T>C	ENST00000219596.1	-	10	2132	c.2093A>G	c.(2092-2094)gAg>gGg	p.E698G	MEFV_ENST00000339854.4_Missense_Mutation_p.E518G|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.E487G	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	698	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CGCCTGGTACTCATTTTCCTT	0.532													False	0	False	16:3293394	0	C	3293394	T	C	3293394	3	2	55	1	0	0	0	0	1	0	0	0	9526	1551	54	4	256	4	MEFV	16	3293394	Missense_Mutation	SNP	T	TCGA-HV-A5A6-01A-11D-A26I-08		3293394	87061359	47	4338											
SLC6A2	6530	broad.mit.edu	37	chr16	55733527	55733527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcaggccgggtctatactgGagactgtgctggaagttcgt	14	8	2	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:55733527G>T	ENST00000379906.2	+	11	1806	c.1551G>T	c.(1549-1551)tgG>tgT	p.W517C	SLC6A2_ENST00000561820.1_Missense_Mutation_p.W517C|SLC6A2_ENST00000568943.1_Missense_Mutation_p.W517C|SLC6A2_ENST00000219833.8_Missense_Mutation_p.W517C|SLC6A2_ENST00000566163.1_Missense_Mutation_p.W472C|SLC6A2_ENST00000414754.3_Missense_Mutation_p.W517C|SLC6A2_ENST00000567238.1_Missense_Mutation_p.W412C	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	517					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTCTATACTGGAGACTGTGCT	0.592													False	0	False	16:55733527	0	T	55733527	G	T	55733527	3	4	55	1	0	0	0	0	1	0	0	0	14763	1183	41	3	1684	3	SLC6A2	16	55733527	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	52440133	55733527	34621226	48	4339											
IL34	146433	broad.mit.edu	37	chr16	70688501	70688501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggagatgtggcccttgaCgcagaatgaggagtgcactg	15	7	0	4			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:70688501C>T	ENST00000429149.2	+	3	644	c.89C>T	c.(88-90)aCg>aTg	p.T30M	IL34_ENST00000566361.1_Missense_Mutation_p.T5M|IL34_ENST00000288098.2_Missense_Mutation_p.T30M|IL34_ENST00000569641.1_Intron	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	30					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TGGCCCTTGACGCAGAATGAG	0.572											OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	16:70688501	0	T	70688501	C	T	70688501	3	4	55	1	0	0	0	0	1	0	0	0	7744	536	19	1	95	1	IL34	16	70688501	Missense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	14954974	70688501	19666252	49	4340											
ZNF821	55565	broad.mit.edu	37	chr16	71913839	71913839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttggatttgtctgtttcCgacgggacatgtttccctga	10	8	1	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:71913839C>T	ENST00000425432.1	-	3	390	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000565601.1_Missense_Mutation_p.R4Q|ZNF821_ENST00000564134.1_Missense_Mutation_p.R4Q|ZNF821_ENST00000313565.6_Missense_Mutation_p.R4Q|ZNF821_ENST00000446827.2_Missense_Mutation_p.R4Q	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R4L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TGTCTGTTTCCGACGGGACAT	0.438													False	0	False	16:71913839	0	T	71913839	C	T	71913839	3	4	55	1	0	0	0	0	1	0	0	0	18260	652	23	1	1121	1	ZNF821	16	71913839	Missense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	1225338	71913839	18440914	50	4341											
HP	3240	broad.mit.edu	37	chr16	72094379	72094379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatctgcctaccttcaaagGattatgcagaagtagggcgt	10	10	2	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr16:72094379G>A	ENST00000357763.4	+	8	946	c.919G>A	c.(919-921)Gat>Aat	p.D307N	HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Intron|HP_ENST00000355906.5_Missense_Mutation_p.D271N|HP_ENST00000398131.2_Missense_Mutation_p.D212N|HP_ENST00000565574.1_Missense_Mutation_p.D212N|HP_ENST00000570083.1_Missense_Mutation_p.D212N			P00738	HPT_HUMAN	haptoglobin	0	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ACCTTCAAAGGATTATGCAGA	0.458													False	0	False	16:72094379	0	A	72094379	G	A	72094379	3	1	55	1	0	0	0	0	1	0	0	0	7374	1174	41	2	837	2	HP	16	72094379	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	180540	72094379	18260374	51	4342											
ZBTB4	57659	broad.mit.edu	37	chr17	7366346	7366348	+	In_Frame_Del	DEL	TCA	TCA	-													caccagcctttgattcctccTcatcctcctcctcctcctct					rs78260319	byFrequency	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	TCA	TCA	-	-	TCA	TCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr17:7366346_7366348delTCA	ENST00000311403.4	-	4	2292_2294	c.1953_1955delTGA	c.(1951-1956)gatgag>gag	p.D651del	ZBTB4_ENST00000380599.4_In_Frame_Del_p.D651del	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	651	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TGATtcctcctcatcctcctcct	0.611													False	1	False	17:7366346	0	-	7366348	TCA	-	7366346	7	5	55	1	0	1	0	1	0	0	0	0	17624	1551	54	0	1090	0	ZBTB4	17	7366346	In_Frame_Del	DEL	TCA	TCGA-HV-A5A6-01A-11D-A26I-08		7366346	73828864	52	4343											
TP53	7157	broad.mit.edu	37	chr17	7574003	7574003	+	Frame_Shift_Del	DEL	G	G	-													caaggcctcattcagctctcGgaacatctcgaagcgctcac							TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr17:7574003delG	ENST00000269305.4	-	10	1213	c.1024delC	c.(1024-1026)cgafs	p.R342fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Del_p.R342fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	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	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGCTCTCGGAACATCTCG	0.557		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)			False	2	False	17:7574003	0	-	7574003	G	-	7574003	7	5	55	1	0	1	0	1	0	0	0	0	16464	1124	39	0	165	0	TP53	17	7574003	Frame_Shift_Del	DEL	G	TCGA-HV-A5A6-01A-11D-A26I-08	207657	7574003	73621207	53	4344											
MYO1F	4542	broad.mit.edu	37	chr19	8609328	8609328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcacacgtcgtccaagacGctcatgatgcctggggggct	14	13	1	2			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:8609328G>A	ENST00000338257.8	-	14	1644	c.1377C>T	c.(1375-1377)agC>agT	p.S459S		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	459	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGTCCAAGACGCTCATGATGC	0.667													False	0	False	19:8609328	0	A	8609328	G	A	8609328	2	1	55	1	0	0	0	0	0	0	0	1	10140	1078	38	1		1	MYO1F	19	8609328	Silent	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08		8609328	50519655	54	4345											
EMR3	84658	broad.mit.edu	37	chr19	14749135	14749135	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatagtgcaaagcaccggcGatgatggagcacagcacctg	13	10	0	2			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:14749135G>A	ENST00000253673.5	-	11	1366	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	EMR3_ENST00000344373.4_Silent_p.I370I|EMR3_ENST00000443157.2_Silent_p.I296I|EMR3_ENST00000599900.1_Silent_p.I207I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	422					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AAGCACCGGCGATGATGGAGC	0.582													False	0	False	19:14749135	0	A	14749135	G	A	14749135	2	1	55	1	0	0	0	0	0	0	0	1	5138	1048	37	1		1	EMR3	19	14749135	Silent	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	6139807	14749135	44379848	55	4346											
RYR1	6261	broad.mit.edu	37	chr19	38939147	38939147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccttctgcttccgcatctCcaaggtcagtggggtttgtg	11	12	3	0			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:38939147C>T	ENST00000355481.4	+	10	1084	c.953C>T	c.(952-954)tCc>tTc	p.S318F	RYR1_ENST00000359596.3_Missense_Mutation_p.S318F|RYR1_ENST00000360985.3_Missense_Mutation_p.S318F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	318	MIR 4.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTCCGCATCTCCAAGGTCAGT	0.642													False	0	False	19:38939147	0	T	38939147	C	T	38939147	3	4	55	1	0	0	0	0	1	0	0	0	13847	855	30	2	991	2	RYR1	19	38939147	Missense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	24190012	38939147	20189836	56	4347											
SYT3	84258	broad.mit.edu	37	chr19	51133050	51133050	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccggaccttggtctgAaactttttcttgcggtcagg	11	11	3	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:51133050A>T	ENST00000338916.4	-	3	1686	c.1053T>A	c.(1051-1053)ttT>ttA	p.F351L	SYT3_ENST00000600079.1_Missense_Mutation_p.F351L|SYT3_ENST00000544769.1_Missense_Mutation_p.F351L|SYT3_ENST00000593901.1_Missense_Mutation_p.F351L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	351	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCTTGGTCTGAAACTTTTTCT	0.632													False	0	True	19:51133050	0	T	51133050	A	T	51133050	3	4	55	1	0	0	0	0	1	0	0	0	15557	243	9	5	743	5	SYT3	19	51133050	Missense_Mutation	SNP	A	TCGA-HV-A5A6-01A-11D-A26I-08	12193903	51133050	7995933	57	4348											
ZNF784	147808	broad.mit.edu	37	chr19	56135868	56135868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggtccagtggctcctgGgatcgcgactccggagtcgg	15	13	0	0			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr19:56135868G>A	ENST00000325351.4	-	1	99	c.60C>T	c.(58-60)tcC>tcT	p.S20S	ZNF784_ENST00000591479.1_Silent_p.S20S	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GTGGCTCCTGGGATCGCGACT	0.716													False	0	True	19:56135868	0	A	56135868	G	A	56135868	2	1	55	1	0	0	0	0	0	0	0	1	18238	1219	43	2		2	ZNF784	19	56135868	Silent	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	5002818	56135868	2993115	58	4349											
PCSK2	5126	broad.mit.edu	37	chr20	17417442	17417442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgattgacatctacagcGccagctggggccccacagac	11	14	1	3	rs144151196		TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr20:17417442G>A	ENST00000262545.2	+	8	1114	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	PCSK2_ENST00000536609.1_Missense_Mutation_p.A232T|PCSK2_ENST00000377899.1_Missense_Mutation_p.A248T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	267	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATCTACAGCGCCAGCTGGGG	0.617													False	0	False	20:17417442	0	A	17417442	G	A	17417442	3	1	55	1	0	0	0	0	1	0	0	0	11669	1087	38	1	829	1	PCSK2	20	17417442	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08		17417442	45608078	59	4350											
CCT8	10694	broad.mit.edu	37	chr21	30434482	30434482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaagtattaacaccatcGtctactgccctttctatgtc	5	11	2	1	rs148753136	byFrequency	TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr21:30434482G>A	ENST00000286788.4	-	11	1385	c.1179C>T	c.(1177-1179)gaC>gaT	p.D393D	CCT8_ENST00000542732.1_Silent_p.D374D|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Silent_p.D320D	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	393					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	p.D393D(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TAACACCATCGTCTACTGCCC	0.358													False	0	False	21:30434482	0	A	30434482	G	A	30434482	2	1	55	1	0	0	0	0	0	0	0	1	2983	1136	40	1		1	CCT8	21	30434482	Silent	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08		30434482	17695413	60	4351											
BCR	613	broad.mit.edu	37	chr22	23596046	23596046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccgggcagaggagcagcGccggcaccaagatgggctgc	17	12	0	3			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr22:23596046G>A	ENST00000305877.8	+	2	2091	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H	BCR_ENST00000359540.3_Missense_Mutation_p.R447H	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	447					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GAGGAGCAGCGCCGGCACCAA	0.622			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								False	0	False	22:23596046	0	A	23596046	G	A	23596046	3	1	55	1	0	0	0	0	1	0	0	0	1392	1087	38	1	1346	1	BCR	22	23596046	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08		23596046	27708520	61	4352											
MOV10L1	54456	broad.mit.edu	37	chr22	50589311	50589311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctttcggtgcttgtggcGcacataatcccctgttggtg	12	10	0	0			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chr22:50589311G>A	ENST00000262794.5	+	21	2958	c.2875G>A	c.(2875-2877)Gca>Aca	p.A959T	MOV10L1_ENST00000395852.1_Missense_Mutation_p.A86T|MOV10L1_ENST00000354853.2_Intron|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A959T|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A939T|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A959T|MOV10L1_ENST00000395843.1_Intron	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	959					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGCTTGTGGCGCACATAATCC	0.577													False	0	False	22:50589311	0	A	50589311	G	A	50589311	3	1	55	1	0	0	0	0	1	0	0	0	9786	1087	38	1	3010	1	MOV10L1	22	50589311	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08	26993265	50589311	715255	62	4353											
ARHGAP6	395	broad.mit.edu	37	chrX	11187680	11187680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaacagcgatgatggccGtgctctcctcagcccgggct	12	15	2	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chrX:11187680G>A	ENST00000337414.4	-	9	2626	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.T382M|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.T410M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.T382M|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.T617M|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.T585M|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.T394M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	585	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GATGATGGCCGTGCTCTCCTC	0.483													False	0	False	X:11187680	0	A	11187680	G	A	11187680	3	1	55	1	0	0	0	0	1	0	0	0	889	1145	40	1	1312	1	ARHGAP6	23	11187680	Missense_Mutation	SNP	G	TCGA-HV-A5A6-01A-11D-A26I-08		11187680	144082880	63	4354											
SLC7A3	84889	broad.mit.edu	37	chrX	70149579	70149579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaccagaacggggaaccCgggcaccaaactccgcatag	11	15	0	1			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chrX:70149579C>T	ENST00000374299.3	-	2	413	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R90Q			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	90					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACGGGGAACCCGGGCACCAAA	0.542													False	0	True	X:70149579	0	T	70149579	C	T	70149579	3	4	55	1	0	0	0	0	1	0	0	0	14778	652	23	1	1634	1	SLC7A3	23	70149579	Missense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	58961899	70149579	85120981	64	4355											
COL4A5	1287	broad.mit.edu	37	chrX	107849999	107849999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggatttgcattacctgggCcacctgggccaccaggactt	11	13	0	0			TCGA-HV-A5A6-01A-11D-A26I-08	TCGA-HV-A5A6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cef48024-e351-4de9-a83b-f3c10fe9e0f7	bc5bef8e-3ef9-4f30-9ed9-5b861c924522	g.chrX:107849999C>A	ENST00000328300.6	+	29	2516	c.2272C>A	c.(2272-2274)Cca>Aca	p.P758T	COL4A5_ENST00000361603.2_Missense_Mutation_p.P758T	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	758	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATTACCTGGGCCACCTGGGCC	0.507									Alport syndrome with Diffuse Leiomyomatosis				False	0	True	X:107849999	0	A	107849999	C	A	107849999	3	1	55	1	0	0	0	0	1	0	0	0	3717	739	26	3	2386	3	COL4A5	23	107849999	Missense_Mutation	SNP	C	TCGA-HV-A5A6-01A-11D-A26I-08	37700420	107849999	47420561	65	4356											
AADACL3	126767	broad.mit.edu	37	chr1	12779503	12779503	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atatttgagaagctcagaatCtgttctatgccccaattttt	6	8	3	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:12779503C>G	ENST00000359318.5	+	2	229	c.24C>G	c.(22-24)atC>atG	p.I8M	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	8							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTCAGAATCTGTTCTATGC	0.478													False	0	False	1:12779503	0	G	12779503	C	G	12779503	3	3	56	1	0	0	0	0	1	0	0	0	12	903	32	5	34	5	AADACL3	1	12779503	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		12779503	236471118	1	4357											
LUZP1	7798	broad.mit.edu	37	chr1	23418504	23418504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgatgatggctctagaccGcaacgcctctctggggctaa	11	11	2	3	rs146031719	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:23418504G>A	ENST00000302291.4	-	4	3052	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	751						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCTAGACCGCAACGCCTCT	0.478													False	0	False	1:23418504	0	A	23418504	G	A	23418504	3	1	56	1	0	0	0	0	1	0	0	0	9148	1086	38	1	987	1	LUZP1	1	23418504	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	10639001	23418504	225832117	2	4358											
CSF3R	1441	broad.mit.edu	37	chr1	36939177	36939177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgcccgtccttgggcaCgcagtccaggatggagtccc	13	15	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:36939177C>T	ENST00000373103.1	-	6	1079	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	CSF3R_ENST00000338937.5_Missense_Mutation_p.V178M|CSF3R_ENST00000361632.4_Missense_Mutation_p.V178M|CSF3R_ENST00000373106.1_Missense_Mutation_p.V178M|CSF3R_ENST00000440588.2_Missense_Mutation_p.V178M|CSF3R_ENST00000373104.1_Missense_Mutation_p.V178M|CSF3R_ENST00000418048.2_Missense_Mutation_p.V178M|CSF3R_ENST00000331941.5_Missense_Mutation_p.V178M	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	178	Fibronectin type-III 1.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCTTGGGCACGCAGTCCAGG	0.607													False	0	False	1:36939177	0	T	36939177	C	T	36939177	3	4	56	1	0	0	0	0	1	0	0	0	3962	536	19	1	2216	1	CSF3R	1	36939177	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	13520673	36939177	212311444	3	4359											
ZC3H12A	80149	broad.mit.edu	37	chr1	37947303	37947303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctatgacgacagattcAttgtgaagctggcctacgag	12	8	1	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:37947303A>G	ENST00000373087.6	+	4	801	c.685A>G	c.(685-687)Att>Gtt	p.I229V		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	229					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGACAGATTCATTGTGAAGCT	0.572													False	0	False	1:37947303	0	G	37947303	A	G	37947303	3	3	56	1	0	0	0	0	1	0	0	0	17644	217	8	4	695	4	ZC3H12A	1	37947303	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	1008126	37947303	211303318	4	4360											
ADAM30	11085	broad.mit.edu	37	chr1	120438703	120438703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggagaaaacgcgcagatgtCggggcaacagaagtctcttg	14	8	1	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:120438703C>T	ENST00000369400.1	-	1	415	c.257G>A	c.(256-258)cGa>cAa	p.R86Q		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	86					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCGCAGATGTCGGGGCAACAG	0.527													False	0	True	1:120438703	0	T	120438703	C	T	120438703	3	4	56	1	0	0	0	0	1	0	0	0	248	884	31	1	2119	1	ADAM30	1	120438703	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	82491400	120438703	128811918	5	4361											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	56	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-HV-A7OL-01A-11D-A33T-08	32232812	152671515	96579106	6	4362											
KPRP	448834	broad.mit.edu	37	chr1	152732580	152732580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggcgtcctgcagtgtgCcagcctcagggaagattctc	14	11	2	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:152732580C>T	ENST00000368773.1	+	2	574	c.516C>T	c.(514-516)tgC>tgT	p.C172C	KPRP_ENST00000606109.1_Silent_p.C172C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	172	Gln-rich.					cytoplasm		p.C172C(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCAGTGTGCCAGCCTCAGG	0.522													False	0	False	1:152732580	0	T	152732580	C	T	152732580	2	4	56	1	0	0	0	0	0	0	0	1	8486	747	26	2		2	KPRP	1	152732580	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	61065	152732580	96518041	7	4363											
C1orf110	339512	broad.mit.edu	37	chr1	162824686	162824686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggggggaccctgtgccGgagataatgggcatttctgg	16	9	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:162824686G>A	ENST00000367910.1	-	4	898	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	260										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						ACCCTGTGCCGGAGATAATGG	0.502													False	0	False	1:162824686	0	A	162824686	G	A	162824686	3	1	56	1	0	0	0	0	1	0	0	0	1998	1115	39	1	134	1	C1orf110	1	162824686	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	10092106	162824686	86425935	8	4364											
MIA3	375056	broad.mit.edu	37	chr1	222802593	222802593	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgagtgagaagataaggctCtctgagggagaagccaaaga	14	5	1	6			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:222802593C>T	ENST00000344922.5	+	4	2056	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.L677L|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	677					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.L677L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGATAAGGCTCTCTGAGGGAG	0.488													False	0	True	1:222802593	0	T	222802593	C	T	222802593	2	4	56	1	0	0	0	0	0	0	0	1	9632	900	32	2		2	MIA3	1	222802593	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	59977907	222802593	26448028	9	4365											
OR11L1	391189	broad.mit.edu	37	chr1	248004586	248004586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaacaaatgcacagcacggCaattgacaggatgaagatgg	11	7	0	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:248004586C>A	ENST00000355784.2	-	1	668	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A205S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACAGCACGGCAATTGACAGG	0.478													False	0	False	1:248004586	0	A	248004586	C	A	248004586	3	1	56	1	0	0	0	0	1	0	0	0	10998	710	25	3	359	3	OR11L1	1	248004586	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	25201993	248004586	1246035	10	4366											
OR2L2	26246	broad.mit.edu	37	chr1	248202246	248202246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttctccttgctgtctaccGcatgcactctgcagaaggga	11	12	3	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:248202246G>A	ENST00000366479.2	+	1	773	c.677G>A	c.(676-678)cGc>cAc	p.R226H	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R226L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			GCTGTCTACCGCATGCACTCT	0.483													False	0	False	1:248202246	0	A	248202246	G	A	248202246	3	1	56	1	0	0	0	0	1	0	0	0	11075	1087	38	1	679	1	OR2L2	1	248202246	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	197660	248202246	1048375	11	4367											
ODC1	4953	broad.mit.edu	37	chr2	10583672	10583672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcacgaaggtctcaggatCggtacagccgcttcctacat	10	13	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:10583672C>T	ENST00000234111.4	-	7	1120	c.610G>A	c.(610-612)Gat>Aat	p.D204N	ODC1_ENST00000405333.1_Missense_Mutation_p.D204N	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	204					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	GTCTCAGGATCGGTACAGCCG	0.478													False	0	False	2:10583672	0	T	10583672	C	T	10583672	3	4	56	1	0	0	0	0	1	0	0	0	10893	884	31	1	799	1	ODC1	2	10583672	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		10583672	232615701	12	4368											
ATL2	64225	broad.mit.edu	37	chr2	38525479	38525479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatacatagcaaacatgaccGcaaacagtgtggctggggta	11	8	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:38525479G>A	ENST00000378954.4	-	12	1440	c.1439C>T	c.(1438-1440)gCg>gTg	p.A480V	ATL2_ENST00000406122.1_Missense_Mutation_p.A309V|ATL2_ENST00000402054.1_Missense_Mutation_p.A309V|ATL2_ENST00000419554.2_Missense_Mutation_p.A480V|ATL2_ENST00000452935.2_Missense_Mutation_p.A462V|ATL2_ENST00000539122.1_Missense_Mutation_p.A309V|ATL2_ENST00000546051.1_Missense_Mutation_p.A309V|ATL2_ENST00000332337.4_Missense_Mutation_p.A462V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	480					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AAACATGACCGCAAACAGTGT	0.408													False	0	False	2:38525479	0	A	38525479	G	A	38525479	3	1	56	1	0	0	0	0	1	0	0	0	1111	1087	38	1	432	1	ATL2	2	38525479	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	27941807	38525479	204673894	13	4369											
PSME4	23198	broad.mit.edu	37	chr2	54120082	54120082	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggaaggcatcatcaaAattcctgaatataccctata	7	9	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:54120082A>T	ENST00000404125.1	-	36	4109	c.4054T>A	c.(4054-4056)Ttt>Att	p.F1352I	PSME4_ENST00000421748.2_Missense_Mutation_p.F496I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1352					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.F1238V(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCATCATCAAAATTCCTGAAT	0.363													False	0	True	2:54120082	0	T	54120082	A	T	54120082	3	4	56	1	0	0	0	0	1	0	0	0	12785	14	1	5	1521	5	PSME4	2	54120082	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	15594603	54120082	189079291	14	4370											
GPAT2	150763	broad.mit.edu	37	chr2	96690307	96690307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagggccacgtgcgcccGcagcaggctcagtgagtgct	15	14	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:96690307G>A	ENST00000434632.1	-	16	1996	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	GPAT2_ENST00000453542.1_Missense_Mutation_p.R442W|GPAT2_ENST00000377137.3_Missense_Mutation_p.R513W|GPAT2_ENST00000359548.4_Missense_Mutation_p.R513W			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	513					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						ACGTGCGCCCGCAGCAGGCTC	0.642													False	0	True	2:96690307	0	A	96690307	G	A	96690307	3	1	56	1	0	0	0	0	1	0	0	0	6635	1086	38	1	882	1	GPAT2	2	96690307	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	42570225	96690307	146509066	15	4371											
UNC50	25972	broad.mit.edu	37	chr2	99226304	99226304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggcaagacacacagccGgagcgaaacgctacaaatat	10	11	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:99226304G>A	ENST00000409975.1	+	1	1263	c.133G>A	c.(133-135)Gga>Aga	p.G45R	UNC50_ENST00000357765.2_Missense_Mutation_p.G28R|UNC50_ENST00000409347.1_Missense_Mutation_p.G45R			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	28					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACACACAGCCGGAGCGAAACG	0.483													False	0	False	2:99226304	0	A	99226304	G	A	99226304	3	1	56	1	0	0	0	0	1	0	0	0	17074	1117	39	1	84	1	UNC50	2	99226304	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	2535997	99226304	143973069	16	4372											
RGPD3	653489	broad.mit.edu	37	chr2	107032411	107032411	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttctgaaccaattcTtctttagtaaattcagcata	5	9	4	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:107032411T>G	ENST00000409886.3	-	21	5046	c.4959A>C	c.(4957-4959)gaA>gaC	p.E1653D	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1653D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1653					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GAACCAATTCTTCTTTAGTAA	0.378													False	0	False	2:107032411	0	G	107032411	T	G	107032411	3	3	56	1	0	0	0	0	1	0	0	0	13366	1606	56	4	329	4	RGPD3	2	107032411	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	7806107	107032411	136166962	17	4373											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257073	114257073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgagggcggcggcccgagCgacccctcagagtttggcac	15	14	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:114257073C>T	ENST00000306507.5	+	1	413	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	80					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GCGGCCCGAGCGACCCCTCAG	0.697													False	0	False	2:114257073	0	T	114257073	C	T	114257073	2	4	56	1	0	0	0	0	0	0	0	1	6040	767	27	1		1	FOXD4L1	2	114257073	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	7224662	114257073	128942300	18	4374											
GORASP2	26003	broad.mit.edu	37	chr2	171818252	171818252	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgaatccagctactacAttaccaggtaaccaccaggg	7	13	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:171818252A>C	ENST00000234160.4	+	8	1718	c.903A>C	c.(901-903)acA>acC	p.T301T	GORASP2_ENST00000452526.2_Silent_p.T313T|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	301	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CAGCTACTACATTACCAGGTA	0.393													False	0	False	2:171818252	0	C	171818252	A	C	171818252	2	2	56	1	0	0	0	0	0	0	0	1	6621	204	8	4		4	GORASP2	2	171818252	Silent	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	57561179	171818252	71381121	19	4375											
SPHKAP	80309	broad.mit.edu	37	chr2	228855826	228855826	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcggcatctggacactctgGctccaggtcaaagttgatca	10	12	4	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:228855826G>T	ENST00000392056.3	-	11	4895	c.4849C>A	c.(4849-4851)Cca>Aca	p.P1617T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1588T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1617						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGACACTCTGGCTCCAGGTCA	0.557													False	0	False	2:228855826	0	T	228855826	G	T	228855826	3	4	56	1	0	0	0	0	1	0	0	0	15130	1203	42	3	261	3	SPHKAP	2	228855826	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	57037574	228855826	14343547	20	4376											
TGM4	7047	broad.mit.edu	37	chr3	44935102	44935102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcctgatgaggacgagcGcaaagagtacatcctcaatg	11	10	1	3	rs147559877		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:44935102G>A	ENST00000296125.4	+	5	532	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	155					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GAGGACGAGCGCAAAGAGTAC	0.507													False	0	False	3:44935102	0	A	44935102	G	A	44935102	3	1	56	1	0	0	0	0	1	0	0	0	15914	1087	38	1	482	1	TGM4	3	44935102	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		44935102	153087328	21	4377											
CDCP1	64866	broad.mit.edu	37	chr3	45153640	45153640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggtggaaccatgggaggTgtaaggccattttcactcct	14	8	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:45153640T>C	ENST00000296129.1	-	3	724	c.590A>G	c.(589-591)cAc>cGc	p.H197R	CDCP1_ENST00000425231.2_Missense_Mutation_p.H197R	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	197						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CCATGGGAGGTGTAAGGCCAT	0.522													False	0	False	3:45153640	0	C	45153640	T	C	45153640	3	2	56	1	0	0	0	0	1	0	0	0	3116	1696	59	4	1956	4	CDCP1	3	45153640	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	218538	45153640	152868790	22	4378											
TLR9	54106	broad.mit.edu	37	chr3	52257640	52257640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcgccagtttgacgatgCggttgtaggacaacagcaga	14	9	0	2	rs147300053		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:52257640C>T	ENST00000597542.1	-	9	1721	c.764G>A	c.(763-765)cGc>cAc	p.R255H	TLR9_ENST00000360658.2_Missense_Mutation_p.R231H|TLR9_ENST00000494383.1_Silent_p.P384P			Q9NR96	TLR9_HUMAN	toll-like receptor 9	231					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TTTGACGATGCGGTTGTAGGA	0.617													False	0	False	3:52257640	0	T	52257640	C	T	52257640	3	4	56	1	0	0	0	0	1	0	0	0	16040	768	27	1	2410	1	TLR9	3	52257640	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	7104000	52257640	145764790	23	4379											
STAB1	23166	broad.mit.edu	37	chr3	52551596	52551596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccgtgagggttacagcGgggatggcatccggacctgc	17	11	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:52551596G>A	ENST00000321725.6	+	44	4670	c.4594G>A	c.(4594-4596)Ggg>Agg	p.G1532R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1532	EGF-like 12.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGTTACAGCGGGGATGGCAT	0.622													False	0	True	3:52551596	0	A	52551596	G	A	52551596	3	1	56	1	0	0	0	0	1	0	0	0	15319	1116	39	1	4768	1	STAB1	3	52551596	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	293956	52551596	145470834	24	4380											
VGLL3	389136	broad.mit.edu	37	chr3	87017871	87017871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagcaggaatcctggccGcatgcactgaaggcatcagc	15	11	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:87017871G>A	ENST00000398399.2	-	3	1169	c.806C>T	c.(805-807)gCg>gTg	p.A269V	VGLL3_ENST00000383698.3_Missense_Mutation_p.A269V	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AATCCTGGCCGCATGCACTGA	0.572													False	0	False	3:87017871	0	A	87017871	G	A	87017871	3	1	56	1	0	0	0	0	1	0	0	0	17244	1087	38	1	182	1	VGLL3	3	87017871	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	34466275	87017871	111004559	25	4381											
CEP97	79598	broad.mit.edu	37	chr3	101446386	101446386	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggaaataatcttaagGtgaatggtttcttttttgtt	10	3	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:101446386G>A	ENST00000341893.3	+	3	1097		c.e3+1		CEP97_ENST00000327230.4_Splice_Site|CEP97_ENST00000494050.1_Splice_Site			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa							centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TAATCTTAAGGTGAATGGTTT	0.343													False	0	False	3:101446386	0	A	101446386	G	A	101446386	5	1	56	1	0	0	0	0	0	0	1	0	3286	1275	44	2	356	2	CEP97	3	101446386	Splice_Site	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	14428515	101446386	96576044	26	4382											
CPNE4	131034	broad.mit.edu	37	chr3	131442441	131442441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtacactgggtttatgCaggtgcgaatcacctcagtc	11	9	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:131442441C>T	ENST00000512055.1	-	7	2335	c.209G>A	c.(208-210)tGc>tAc	p.C70Y	CPNE4_ENST00000502818.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000511604.1_Missense_Mutation_p.C70Y|CPNE4_ENST00000512332.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000429747.1_Missense_Mutation_p.C70Y			Q96A23	CPNE4_HUMAN	copine IV	70	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGGTTTATGCAGGTGCGAAT	0.418													False	0	False	3:131442441	0	T	131442441	C	T	131442441	3	4	56	1	0	0	0	0	1	0	0	0	3837	710	25	2	1520	2	CPNE4	3	131442441	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	29996055	131442441	66579989	27	4383											
GPR149	344758	broad.mit.edu	37	chr3	154056055	154056055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatggcaagggcataaccGgaacgctggggacaaaaaca	14	8	0	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:154056055G>A	ENST00000389740.2	-	4	1728	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	543						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGGCATAACCGGAACGCTGGG	0.423													False	0	False	3:154056055	0	A	154056055	G	A	154056055	2	1	56	1	0	0	0	0	0	0	0	1	6700	1103	39	1		1	GPR149	3	154056055	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	22613614	154056055	43966375	28	4384											
ST6GAL1	6480	broad.mit.edu	37	chr3	186769122	186769122	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaaaaactaccattcgcctGatgaactctcaggtaaaatt	5	10	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:186769122G>C	ENST00000169298.3	+	5	1367	c.693G>C	c.(691-693)ctG>ctC	p.L231L	ST6GAL1_ENST00000448044.1_Silent_p.L231L|ST6GAL1_ENST00000457772.2_5'UTR	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	231					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCATTCGCCTGATGAACTCTC	0.453													False	0	False	3:186769122	0	C	186769122	G	C	186769122	2	2	56	1	0	0	0	0	0	0	0	1	15303	1277	45	5		5	ST6GAL1	3	186769122	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	32713067	186769122	11253308	29	4385											
MUC4	4585	broad.mit.edu	37	chr3	195517556	195517556	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccttctggatcaaatgTtactaaggctgctgaggtga	11	7	2	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:195517556T>A	ENST00000463781.3	-	2	1354	c.895A>T	c.(895-897)Aca>Tca	p.T299S	MUC4_ENST00000475231.1_Missense_Mutation_p.T299S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	304					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGATCAAATGTTACTAAGGCT	0.483													False	0	False	3:195517556	0	A	195517556	T	A	195517556	3	1	56	1	0	0	0	0	1	0	0	0	10045	1725	60	5		5	MUC4	3	195517556	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	8748434	195517556	2504874	30	4386											
ENAM	10117	broad.mit.edu	37	chr4	71508260	71508260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggaacgtaaacaagtagctCgtccaggaaatccagtttat	10	8	0	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:71508260C>A	ENST00000396073.3	+	9	1398	c.1117C>A	c.(1117-1119)Cgt>Agt	p.R373S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	373					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACAAGTAGCTCGTCCAGGAAA	0.438													False	0	False	4:71508260	0	A	71508260	C	A	71508260	3	1	56	1	0	0	0	0	1	0	0	0	5144	884	31	3	1147	3	ENAM	4	71508260	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		71508260	119646016	31	4387											
WDFY3	23001	broad.mit.edu	37	chr4	85715780	85715780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaagaatttgctcggcGcacaacagtaagaagtctga	10	9	2	4			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:85715780G>A	ENST00000322366.6	-	21	3786	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C	WDFY3_ENST00000295888.4_Missense_Mutation_p.R1127C			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1127						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTGCTCGGCGCACAACAGTA	0.448													False	0	False	4:85715780	0	A	85715780	G	A	85715780	3	1	56	1	0	0	0	0	1	0	0	0	17354	1087	38	1	7393	1	WDFY3	4	85715780	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	14207520	85715780	105438496	32	4388											
NPNT	255743	broad.mit.edu	37	chr4	106888442	106888444	+	In_Frame_Del	DEL	GTG	GTG	-													ctcatgcattcaggggacctGtgcctgtcattcaggcacaa							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	GTG	GTG	-	-	GTG	GTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:106888442_106888444delGTG	ENST00000379987.2	+	11	1659_1661	c.1443_1445delGTG	c.(1441-1446)ctgtgc>ctc	p.C482del	NPNT_ENST00000514622.1_In_Frame_Del_p.C453del|NPNT_ENST00000305572.8_In_Frame_Del_p.C453del|NPNT_ENST00000506666.1_In_Frame_Del_p.C483del|NPNT_ENST00000453617.2_In_Frame_Del_p.C499del|NPNT_ENST00000427316.2_In_Frame_Del_p.C512del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	482	MAM.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CAGGGGACCTGTGCCTGTCATTC	0.591													False	1	False	4:106888442	0	-	106888444	GTG	-	106888442	7	5	56	1	0	1	0	1	0	0	0	0	10658	1364	48	0	1634	0	NPNT	4	106888442	In_Frame_Del	DEL	GTG	TCGA-HV-A7OL-01A-11D-A33T-08	21172662	106888442	84265834	33	4389											
SLC12A7	10723	broad.mit.edu	37	chr5	1081769	1081769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcacgtagggcagtgcgCtggcacggctctcctctgcc	14	14	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:1081769C>T	ENST00000264930.5	-	9	1263	c.1220G>A	c.(1219-1221)aGc>aAc	p.S407N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	407					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGGCAGTGCGCTGGCACGGCT	0.657													False	0	False	5:1081769	0	T	1081769	C	T	1081769	3	4	56	1	0	0	0	0	1	0	0	0	14469	797	28	2	2095	2	SLC12A7	5	1081769	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		1081769	179833491	34	4390											
ERBB2IP	55914	broad.mit.edu	37	chr5	65288599	65288599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtaccatgtcgctgtctacGaggggaagaggagactgtca	15	8	2	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:65288599G>A	ENST00000284037.5	+	3	442	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R18Q	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	18					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CGCTGTCTACGAGGGGAAGAG	0.363													False	0	False	5:65288599	0	A	65288599	G	A	65288599	3	1	56	1	0	0	0	0	1	0	0	0	5239	1058	37	1	55	1	ERBB2IP	5	65288599	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	64206830	65288599	115626661	35	4391											
PCDHGA6	0	broad.mit.edu	37	chr5	140755802	140755802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggcgctcagactgcagCgctggcacaagtcacgcctg	13	14	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:140755802C>T	ENST00000517434.1	+	1	2152	c.2152C>T	c.(2152-2154)Cgc>Tgc	p.R718C	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACTGCAGCGCTGGCACAA	0.647													False	0	False	5:140755802	0	T	140755802	C	T	140755802	3	4	56	1	0	0	0	0	1	0	0	0	11626	768	27	1	2154	1	PCDHGA6	5	140755802	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	75467203	140755802	40159458	36	4392											
TCERG1	10915	broad.mit.edu	37	chr5	145838618	145838683	+	In_Frame_Del	DEL	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	-													ctcaggcccaggcacaagctCaggcccaggctcaggctcag					rs111965890	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	-	-	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:145838618_145838683delCAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	ENST00000296702.5	+	4	648_713	c.610_675delCAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	c.(610-675)caggcccaggctcaggctcaggcccaggcccaggcccaggcccaggcccaggcccaagcccaagccdel	p.QAQAQAQAQAQAQAQAQAQAQA204del	TCERG1_ENST00000394421.2_In_Frame_Del_p.QAQAQAQAQAQAQAQAQAQAQA204del	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	204	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.Q212Q(1)|p.A211A(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ggcacaagctcaggcccaggctcaggctcaggcccaggcccaggcccaggcccaggcccaggcccaagcccaagcccaggcccagg	0.68													False	1	True	5:145838618	0	-	145838683	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	-	145838618	7	5	56	1	0	1	0	1	0	0	0	0	15767	827	29	0	624	0	TCERG1	5	145838618	In_Frame_Del	DEL	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	TCGA-HV-A7OL-01A-11D-A33T-08	5082816	145838618	35076642	37	4393											
CNOT6	57472	broad.mit.edu	37	chr5	179992902	179992902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctactgtccatcatgggcGctaaactgggactacaggaa	12	10	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:179992902G>A	ENST00000393356.1	+	9	1066	c.642G>A	c.(640-642)gcG>gcA	p.A214A	CNOT6_ENST00000261951.4_Silent_p.A214A			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	214					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CATCATGGGCGCTAAACTGGG	0.418													False	0	False	5:179992902	0	A	179992902	G	A	179992902	2	1	56	1	0	0	0	0	0	0	0	1	3645	1074	38	1		1	CNOT6	5	179992902	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	34154284	179992902	922358	38	4394											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	56	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-HV-A7OL-01A-11D-A33T-08		7393450	163721617	39	4395											
DNAH8	1769	broad.mit.edu	37	chr6	38690644	38690644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaggctcctccctctaCggaagaggctgcccctcccc	10	18	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:38690644C>T	ENST00000449981.2	+	2	168	c.59C>T	c.(58-60)aCg>aTg	p.T20M						dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTCCCTCTACGGAAGAGGCT	0.592													False	0	False	6:38690644	0	T	38690644	C	T	38690644	3	4	56	1	0	0	0	0	1	0	0	0	4637	551	19	1		1	DNAH8	6	38690644	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	31297194	38690644	132424423	40	4396											
FAM135A	57579	broad.mit.edu	37	chr6	71232278	71232278	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaagctgccattgcataCcaggaacttcagtgagtagt	11	8	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:71232278C>T	ENST00000418814.2	+	13	1706	c.1092C>T	c.(1090-1092)taC>taT	p.Y364Y	FAM135A_ENST00000505868.1_Silent_p.Y364Y|FAM135A_ENST00000505769.1_Silent_p.Y364Y|FAM135A_ENST00000370479.3_Silent_p.Y347Y|FAM135A_ENST00000457062.2_Silent_p.Y347Y|FAM135A_ENST00000361499.3_Silent_p.Y364Y	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	364										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CCATTGCATACCAGGAACTTC	0.333													False	0	False	6:71232278	0	T	71232278	C	T	71232278	2	4	56	1	0	0	0	0	0	0	0	1	5484	518	18	2		2	FAM135A	6	71232278	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	32541634	71232278	99882789	41	4397											
RRAGD	58528	broad.mit.edu	37	chr6	90097155	90097155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttggaaacatcttcccgGcatatcttattagtgctctc	7	11	3	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:90097155G>A	ENST00000369415.4	-	2	579	c.303C>T	c.(301-303)tgC>tgT	p.C101C	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Intron	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	101					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	p.C101C(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CATCTTCCCGGCATATCTTAT	0.428													False	0	False	6:90097155	0	A	90097155	G	A	90097155	2	1	56	1	0	0	0	0	0	0	0	1	13754	1195	42	2		2	RRAGD	6	90097155	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	18864877	90097155	81017912	42	4398											
ARG1	383	broad.mit.edu	37	chr6	131894445	131894445	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcgccaagtccagaaccaTagggattattggagctcctt	11	10	0	1	rs149310631		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:131894445T>C	ENST00000368087.3	+	1	162	c.23T>C	c.(22-24)aTa>aCa	p.I8T	ARG1_ENST00000498260.1_3'UTR|ARG1_ENST00000356962.2_Missense_Mutation_p.I8T			P05089	ARGI1_HUMAN	arginase 1	8					arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TCCAGAACCATAGGGATTATT	0.423													False	0	False	6:131894445	0	C	131894445	T	C	131894445	3	2	56	1	0	0	0	0	1	0	0	0	859	1406	49	4	25	4	ARG1	6	131894445	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	41797290	131894445	39220622	43	4399											
ECT2L	345930	broad.mit.edu	37	chr6	139206663	139206663	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagaaatgataccagcAttccgaactttcctgaagag	9	9	0	4			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:139206663A>C	ENST00000423192.1	+	16	2210	c.2049A>C	c.(2047-2049)gcA>gcC	p.A683A	ECT2L_ENST00000541398.1_Intron|ECT2L_ENST00000367682.2_Silent_p.A683A			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	683	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGATACCAGCATTCCGAACTT	0.443			"N, Splice, Mis"		ETP ALL								False	0	False	6:139206663	0	C	139206663	A	C	139206663	2	2	56	1	0	0	0	0	0	0	0	1	4932	204	8	4		4	ECT2L	6	139206663	Silent	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	7312218	139206663	31908404	44	4400											
POM121L12	285877	broad.mit.edu	37	chr7	53104235	53104235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctcgaggtcacccagtctGctggcccctttggctcctaa	9	17	2	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:53104235G>T	ENST00000408890.4	+	1	887	c.871G>T	c.(871-873)Gct>Tct	p.A291S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	291										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CACCCAGTCTGCTGGCCCCTT	0.607													False	0	False	7:53104235	0	T	53104235	G	T	53104235	3	4	56	1	0	0	0	0	1	0	0	0	12310	1319	46	3	873	3	POM121L12	7	53104235	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		53104235	106034428	45	4401											
COL1A2	1278	broad.mit.edu	37	chr7	94052353	94052353	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccaaggtccagttggcCgaactggagaagtaggtgca	15	8	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:94052353C>T	ENST00000297268.6	+	40	2959	c.2488C>T	c.(2488-2490)Cga>Tga	p.R830*		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	830			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCAGTTGGCCGAACTGGAGA	0.567										HNSCC(75;0.22)			False	0	False	7:94052353	0	T	94052353	C	T	94052353	4	4	56	1	0	0	0	0	0	1	0	0	3701	644	23	1	2646	1	COL1A2	7	94052353	Nonsense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	40948118	94052353	65086310	46	4402											
MEPCE	56257	broad.mit.edu	37	chr7	100030663	100030663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagacgagggcctgaagcGcatgtttcgccggatctacc	15	11	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:100030663G>A	ENST00000310512.2	+	2	2181	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	MEPCE_ENST00000414441.1_Missense_Mutation_p.R129H	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	598	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCTGAAGCGCATGTTTCGC	0.592													False	0	False	7:100030663	0	A	100030663	G	A	100030663	3	1	56	1	0	0	0	0	1	0	0	0	9544	1087	38	1	1799	1	MEPCE	7	100030663	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	5978310	100030663	59108000	47	4403											
PCOLCE	5118	broad.mit.edu	37	chr7	100204241	100204241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggagaaaacagaggaatctCcttcagcccctggtgagtct	11	11	3	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:100204241C>T	ENST00000223061.5	+	6	1208	c.928C>T	c.(928-930)Cct>Tct	p.P310S		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	310					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGAGGAATCTCCTTCAGCCCC	0.572													False	0	False	7:100204241	0	T	100204241	C	T	100204241	3	4	56	1	0	0	0	0	1	0	0	0	11662	855	30	2	950	2	PCOLCE	7	100204241	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	173578	100204241	58934422	48	4404											
ABCB8	11194	broad.mit.edu	37	chr7	150741223	150741223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgggccagtgcaggccGcacggtgctggtaattgccc	16	13	0	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:150741223G>A	ENST00000358849.4	+	15	2024	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	ABCB8_ENST00000542328.1_Missense_Mutation_p.R556H|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.R661H|ABCB8_ENST00000498578.1_Missense_Mutation_p.R644H	NM_001282291.1|NM_001282293.1|NM_007188.3	NP_001269220.1|NP_001269222.1|NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	661	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGCAGGCCGCACGGTGCTG	0.642													False	0	False	7:150741223	0	A	150741223	G	A	150741223	3	1	56	1	0	0	0	0	1	0	0	0	47	1087	38	1	1989	1	ABCB8	7	150741223	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	50536982	150741223	8397440	49	4405											
MYOM2	9172	broad.mit.edu	37	chr8	2041801	2041801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgtgtttctcaggttcGtggtgcacggcttaaccacg	11	12	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:2041801G>A	ENST00000262113.4	+	17	2149	c.2008G>A	c.(2008-2010)Gtg>Atg	p.V670M	MYOM2_ENST00000523438.1_Missense_Mutation_p.V95M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	670	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTCAGGTTCGTGGTGCACGG	0.498													False	0	False	8:2041801	0	A	2041801	G	A	2041801	3	1	56	1	0	0	0	0	1	0	0	0	10159	1145	40	1	2070	1	MYOM2	8	2041801	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		2041801	144322221	50	4406											
LZTS1	11178	broad.mit.edu	37	chr8	20112535	20112535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattttggagctggacttgCcgtgaccggagtcctgggag	15	10	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:20112535C>T	ENST00000381569.1	-	2	515	c.158G>A	c.(157-159)gGc>gAc	p.G53D	LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D|LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	53					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTGGACTTGCCGTGACCGGA	0.577													False	0	False	8:20112535	0	T	20112535	C	T	20112535	3	4	56	1	0	0	0	0	1	0	0	0	9201	739	26	2	1644	2	LZTS1	8	20112535	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	18070734	20112535	126251487	51	4407											
SFTPC	6440	broad.mit.edu	37	chr8	22019355	22019355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaagatggatgtgggcaGcaaagaggtcctgatggaga	16	6	0	4			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:22019355G>A	ENST00000521315.1	+	1	46	c.14G>A	c.(13-15)aGc>aAc	p.S5N	SFTPC_ENST00000318561.3_Missense_Mutation_p.S5N|SFTPC_ENST00000524255.1_Missense_Mutation_p.S5N|SFTPC_ENST00000437090.2_Missense_Mutation_p.S5N|SFTPC_ENST00000522109.1_Missense_Mutation_p.S5N|SFTPC_ENST00000520605.1_Missense_Mutation_p.S5N			P11686	PSPC_HUMAN	surfactant protein C	5					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GATGTGGGCAGCAAAGAGGTC	0.582													False	0	False	8:22019355	0	A	22019355	G	A	22019355	3	1	56	1	0	0	0	0	1	0	0	0	14273	971	34	2	16	2	SFTPC	8	22019355	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	1906820	22019355	124344667	52	4408											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	23	8	0	1	rs121913388		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21971120	0	A	21971120	G	A	21971120	4	1	56	1	0	0	0	0	0	1	0	0	3184	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		21971120	119242311	53	4409											
PRUNE2	158471	broad.mit.edu	37	chr9	79438590	79438590	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaatggccacttttatttcTccatctgacagctcctttag	5	12	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:79438590T>C	ENST00000376718.3	-	6	837	c.714A>G	c.(712-714)ggA>ggG	p.G238G	PRUNE2_ENST00000376713.3_Silent_p.G238G|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	238					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTTTATTTCTCCATCTGACA	0.373													False	0	False	9:79438590	0	C	79438590	T	C	79438590	2	2	56	1	0	0	0	0	0	0	0	1	12717	1538	54	4		4	PRUNE2	9	79438590	Silent	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	57467470	79438590	61774841	54	4410											
FBXW2	0	broad.mit.edu	37	chr9	123527025	123527025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaatcaggctctctgtccGcaagtccatgatgtacaggt	9	11	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:123527025G>A	ENST00000608872.1	-	8	1364	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	FBXW2_ENST00000340778.5_Missense_Mutation_p.R328W|FBXW2_ENST00000493559.1_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2						proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CTCTCTGTCCGCAAGTCCATG	0.517													False	0	False	9:123527025	0	A	123527025	G	A	123527025	3	1	56	1	0	0	0	0	1	0	0	0	5806	1086	38	1	191	1	FBXW2	9	123527025	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	44088435	123527025	17686406	55	4411											
ANGPTL2	23452	broad.mit.edu	37	chr9	129854112	129854112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaaagactttgcggccGgaccagtcctccatggtcac	10	14	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:129854112G>A	ENST00000373425.3	-	4	1736	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Silent_p.S71S|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	373	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding	p.S373S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CTTTGCGGCCGGACCAGTCCT	0.552													False	0	False	9:129854112	0	A	129854112	G	A	129854112	2	1	56	1	0	0	0	0	0	0	0	1	614	1103	39	1		1	ANGPTL2	9	129854112	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	6327087	129854112	11359319	56	4412											
PRRX2	51450	broad.mit.edu	37	chr9	132481624	132481624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggagcgcgtgttcgagcGcacgcactaccccgacgcct	13	16	0	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:132481624G>A	ENST00000372469.4	+	2	601	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	125						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				GTGTTCGAGCGCACGCACTAC	0.701													False	0	True	9:132481624	0	A	132481624	G	A	132481624	3	1	56	1	0	0	0	0	1	0	0	0	12689	1087	38	1	380	1	PRRX2	9	132481624	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	2627512	132481624	8731807	57	4413											
FIBCD1	84929	broad.mit.edu	37	chr9	133779512	133779512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgagtgagtactgccagCcggtccaggaggaccactcc	12	13	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:133779512C>T	ENST00000372338.4	-	7	1567	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D	FIBCD1_ENST00000372337.2_Missense_Mutation_p.G284D|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Missense_Mutation_p.G442D	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	442	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GTACTGCCAGCCGGTCCAGGA	0.637													False	0	False	9:133779512	0	T	133779512	C	T	133779512	3	4	56	1	0	0	0	0	1	0	0	0	5924	739	26	2	64	2	FIBCD1	9	133779512	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	1297888	133779512	7433919	58	4414											
COL5A1	1289	broad.mit.edu	37	chr9	137593148	137593148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggcatcatcgtgtttgGcacccggatcctggatgagg	13	10	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:137593148G>A	ENST00000371817.3	+	4	1037	c.623G>A	c.(622-624)gGc>gAc	p.G208D	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	208	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATCGTGTTTGGCACCCGGATC	0.552													False	0	False	9:137593148	0	A	137593148	G	A	137593148	3	1	56	1	0	0	0	0	1	0	0	0	3719	1203	42	2	637	2	COL5A1	9	137593148	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	3813636	137593148	3620283	59	4415											
CUBN	8029	broad.mit.edu	37	chr10	16919089	16919089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagcttcccgtcacagcGgaacgagctggaaaaggcat	11	12	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:16919089G>A	ENST00000377833.4	-	57	8978	c.8913C>T	c.(8911-8913)tcC>tcT	p.S2971S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2971	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGTCACAGCGGAACGAGCTG	0.453													False	0	False	10:16919089	0	A	16919089	G	A	16919089	2	1	56	1	0	0	0	0	0	0	0	1	4076	1103	39	1		1	CUBN	10	16919089	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		16919089	118615658	60	4416											
ARMC3	219681	broad.mit.edu	37	chr10	23250963	23250963	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtctcgaacaatgctaagaGacaatcaaggattggaccat	9	8	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:23250963G>A	ENST00000298032.5	+	7	772	c.688G>A	c.(688-690)Gac>Aac	p.D230N	ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.D230N|ARMC3_ENST00000409049.3_Missense_Mutation_p.D230N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	230							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATGCTAAGAGACAATCAAGG	0.368													False	0	False	10:23250963	0	A	23250963	G	A	23250963	3	1	56	1	0	0	0	0	1	0	0	0	956	942	33	2	710	2	ARMC3	10	23250963	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	6331874	23250963	112283784	61	4417											
DUSP13	0	broad.mit.edu	37	chr10	76855494	76855494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaacttgcctgcagcgGcattcacaacgtgggtgatt	12	11	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:76855494G>A	ENST00000491677.2	-	7	1162	c.620C>T	c.(619-621)gCc>gTc	p.A207V	DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000472493.2_Missense_Mutation_p.A78V|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	70						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCTGCAGCGGCATTCACAAC	0.577													False	0	False	10:76855494	0	A	76855494	G	A	76855494	3	1	56	1	0	0	0	0	1	0	0	0	4843	1203	42	2	371	2	DUSP13	10	76855494	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	53604531	76855494	58679253	62	4418											
SFXN4	119559	broad.mit.edu	37	chr10	120914629	120914629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttccttgtccatgaccGcaatccccttaatggattca	6	14	1	1	rs151157939		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:120914629G>A	ENST00000355697.2	-	11	696	c.677C>T	c.(676-678)gCg>gTg	p.A226V	SFXN4_ENST00000330036.6_Missense_Mutation_p.A217V|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	226					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GTCCATGACCGCAATCCCCTT	0.478													False	0	False	10:120914629	0	A	120914629	G	A	120914629	3	1	56	1	0	0	0	0	1	0	0	0	14278	1087	38	1	352	1	SFXN4	10	120914629	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	44059135	120914629	14620118	63	4419											
TTC17	55761	broad.mit.edu	37	chr11	43471655	43471655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagaacacatagattttgCcacccctatacagcagccag	6	14	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:43471655C>T	ENST00000039989.4	+	20	2824	c.2810C>T	c.(2809-2811)gCc>gTc	p.A937V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	937							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATAGATTTTGCCACCCCTATA	0.473													False	0	False	11:43471655	0	T	43471655	C	T	43471655	3	4	56	1	0	0	0	0	1	0	0	0	16768	739	26	2	2888	2	TTC17	11	43471655	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		43471655	91534861	64	4420											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466302	57466302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggccaaccagacacgcaAtggaagcctatcttatgaca	8	13	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:57466302A>G	ENST00000287169.3	+	11	2756	c.1394A>G	c.(1393-1395)aAt>aGt	p.N465S	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.N412S	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	465						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CAGACACGCAATGGAAGCCTA	0.557													False	0	False	11:57466302	0	G	57466302	A	G	57466302	3	3	56	1	0	0	0	0	1	0	0	0	17701	101	4	4	1432	4	ZDHHC5	11	57466302	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	13994647	57466302	77540214	65	4421											
CTNND1	1500	broad.mit.edu	37	chr11	57559074	57559074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccacgtctcggcgcagctgGaacgcgtccgggtctcacca	13	16	2	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:57559074G>A	ENST00000524630.1	+	3	637	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000428599.2_Missense_Mutation_p.E42K|CTNND1_ENST00000529873.1_5'UTR|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000415361.2_Intron|CTNND1_ENST00000399050.4_Missense_Mutation_p.E42K|CTNND1_ENST00000528621.1_5'UTR|CTNND1_ENST00000526938.1_Missense_Mutation_p.E42K|CTNND1_ENST00000530748.1_5'UTR|CTNND1_ENST00000399039.4_Missense_Mutation_p.E42K|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000534579.1_5'UTR|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000360682.6_Missense_Mutation_p.E42K|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529919.1_Missense_Mutation_p.E42K|CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000532649.1_5'UTR|CTNND1_ENST00000529526.1_5'UTR|RP11-691N7.6_ENST00000531074.1_3'UTR|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000361332.4_Missense_Mutation_p.E42K|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000526357.1_5'UTR|CTNND1_ENST00000532844.1_5'UTR|CTNND1_ENST00000361796.4_Missense_Mutation_p.E42K|CTNND1_ENST00000361391.6_Missense_Mutation_p.E42K|CTNND1_ENST00000358694.6_Missense_Mutation_p.E42K|CTNND1_ENST00000533667.1_Intron			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	42					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GGCGCAGCTGGAACGCGTCCG	0.637													False	0	False	11:57559074	0	A	57559074	G	A	57559074	3	1	56	1	0	0	0	0	1	0	0	0	4044	1175	41	2	126	2	CTNND1	11	57559074	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	92772	57559074	77447442	66	4422											
DAGLA	747	broad.mit.edu	37	chr11	61511762	61511762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcccccacggctctttgCcggctcagccgacccctcct	8	21	2	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:61511762C>T	ENST00000257215.5	+	20	3046	c.2930C>T	c.(2929-2931)gCc>gTc	p.A977V		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	977					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGGCTCTTTGCCGGCTCAGCC	0.672													False	0	False	11:61511762	0	T	61511762	C	T	61511762	3	4	56	1	0	0	0	0	1	0	0	0	4251	739	26	2	3004	2	DAGLA	11	61511762	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	3952688	61511762	73494754	67	4423											
ATG2A	23130	broad.mit.edu	37	chr11	64666137	64666137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcacgtcgcggcatccGctcactcgtgtgtaggtaca	14	12	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:64666137G>A	ENST00000421419.2	-	32	4762	c.4648C>T	c.(4648-4650)Cgg>Tgg	p.R1550W	ATG2A_ENST00000377264.3_Missense_Mutation_p.R1548W			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1548							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGCGGCATCCGCTCACTCGTG	0.607													False	0	False	11:64666137	0	A	64666137	G	A	64666137	3	1	56	1	0	0	0	0	1	0	0	0	1097	1086	38	1	1214	1	ATG2A	11	64666137	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	3154375	64666137	70340379	68	4424											
SYT12	91683	broad.mit.edu	37	chr11	66807334	66807334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgcggggaccacccagccGcaaaggcagtctcagcattg	12	15	1	0	rs34985365		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:66807334G>A	ENST00000393946.2	+	7	1443	c.281G>A	c.(280-282)cGc>cAc	p.R94H	SYT12_ENST00000525457.1_Missense_Mutation_p.R94H|SYT12_ENST00000527043.1_Missense_Mutation_p.R94H|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	94						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCACCCAGCCGCAAAGGCAGT	0.637													False	0	False	11:66807334	0	A	66807334	G	A	66807334	3	1	56	1	0	0	0	0	1	0	0	0	15550	1087	38	1	291	1	SYT12	11	66807334	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	2141197	66807334	68199182	69	4425											
SHANK2	22941	broad.mit.edu	37	chr11	70332955	70332955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgggctccctgggcgtgGcactcggcatgggggatgac	17	11	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:70332955G>A	ENST00000338508.4	-	32	3445	c.3446C>T	c.(3445-3447)gCc>gTc	p.A1149V	SHANK2_ENST00000409161.1_Missense_Mutation_p.A552V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A553V|SHANK2_ENST00000423696.2_Missense_Mutation_p.A769V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	769					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTGGGCGTGGCACTCGGCAT	0.687													False	0	False	11:70332955	0	A	70332955	G	A	70332955	3	1	56	1	0	0	0	0	1	0	0	0	14346	1203	42	2	2114	2	SHANK2	11	70332955	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	3525621	70332955	64673561	70	4426											
NUMA1	0	broad.mit.edu	37	chr11	71724163	71724163	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactccacttccagaaactgCcggccaaggttggcccgctc	9	16	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:71724163C>T	ENST00000393695.3	-	15	4717	c.4386G>A	c.(4384-4386)cgG>cgA	p.R1462R	NUMA1_ENST00000358965.6_Silent_p.R1462R|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1462					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCAGAAACTGCCGGCCAAGGT	0.622			T	RARA	APL								False	0	False	11:71724163	0	T	71724163	C	T	71724163	2	4	56	1	0	0	0	0	0	0	0	1	10818	726	26	2		2	NUMA1	11	71724163	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	1391208	71724163	63282353	71	4427											
ARAP1	116985	broad.mit.edu	37	chr11	72404390	72404390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggacctccttgtagagccGcaagcagctgctgttgagga	13	12	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:72404390G>A	ENST00000359373.5	-	29	4785	c.3934C>T	c.(3934-3936)Cgg>Tgg	p.R1312W	ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1312W|ARAP1_ENST00000429686.1_Missense_Mutation_p.R1006W|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Missense_Mutation_p.R1067W|ARAP1_ENST00000393605.3_Missense_Mutation_p.R1072W|ARAP1_ENST00000334211.8_Missense_Mutation_p.R1067W|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1312W			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1312	PH 4.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TTGTAGAGCCGCAAGCAGCTG	0.612													False	0	False	11:72404390	0	A	72404390	G	A	72404390	3	1	56	1	0	0	0	0	1	0	0	0	840	1086	38	1	446	1	ARAP1	11	72404390	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	680227	72404390	62602126	72	4428											
CREBZF	58487	broad.mit.edu	37	chr11	85375165	85375165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtacgcgtttgcccagcTcccgattctcggcccgcagc	10	18	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:85375165T>C	ENST00000527447.1	-	1	981	c.755A>G	c.(754-756)gAg>gGg	p.E252G	CREBZF_ENST00000398294.2_Missense_Mutation_p.E170G|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	252	Leucine-zipper.				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TTTGCCCAGCTCCCGATTCTC	0.622											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:85375165	0	C	85375165	T	C	85375165	3	2	56	1	0	0	0	0	1	0	0	0	3886	1551	54	4	313	4	CREBZF	11	85375165	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	12970775	85375165	49631351	73	4429											
NCAM1	4684	broad.mit.edu	37	chr11	113078690	113078690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgctgagaacaaggctggCgagcaggatgcgaccatcca	13	10	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:113078690C>T	ENST00000316851.7	+	6	852	c.852C>T	c.(850-852)ggC>ggT	p.G284G	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G293G|NCAM1_ENST00000533760.1_Silent_p.G176G	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	294	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ACAAGGCTGGCGAGCAGGATG	0.532													False	0	False	11:113078690	0	T	113078690	C	T	113078690	2	4	56	1	0	0	0	0	0	0	0	1	10270	755	27	1		1	NCAM1	11	113078690	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	27703525	113078690	21927826	74	4430											
CBL	867	broad.mit.edu	37	chr11	119148958	119148958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgataaggatgtaaagaTtgagccctgtggacacctca	10	7	1	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:119148958T>C	ENST00000264033.4	+	8	1554	c.1178T>C	c.(1177-1179)aTt>aCt	p.I393T		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	393	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_Q409del(13)|p.E369_Q409del(1)|p.?(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GATGTAAAGATTGAGCCCTGT	0.368			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				False	0	False	11:119148958	0	C	119148958	T	C	119148958	3	2	56	1	0	0	0	0	1	0	0	0	2720	1493	52	4	1208	4	CBL	11	119148958	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	6070268	119148958	15857558	75	4431											
USP2	9099	broad.mit.edu	37	chr11	119230302	119230302	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtcccgcatgtagagCctctggaggcagtaatctct	12	11	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:119230302C>A	ENST00000260187.2	-	4	1188	c.894G>T	c.(892-894)agG>agT	p.R298S	USP2_ENST00000525735.1_Missense_Mutation_p.R89S|USP2_ENST00000455332.2_Missense_Mutation_p.R55S	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	298					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GCATGTAGAGCCTCTGGAGGC	0.582													False	0	False	11:119230302	0	A	119230302	C	A	119230302	3	1	56	1	0	0	0	0	1	0	0	0	17135	738	26	3	963	3	USP2	11	119230302	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	81344	119230302	15776214	76	4432											
DDX47	51202	broad.mit.edu	37	chr12	12980302	12980302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgaagcccaaaggtttgCccgaatggtatgcatctttc	10	11	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:12980302C>T	ENST00000358007.3	+	11	1251	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V	DDX47_ENST00000352940.4_Missense_Mutation_p.A361V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	410						nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CAAAGGTTTGCCCGAATGGTA	0.428													False	0	True	12:12980302	0	T	12980302	C	T	12980302	3	4	56	1	0	0	0	0	1	0	0	0	4390	739	26	2	1271	2	DDX47	12	12980302	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		12980302	120871593	77	4433											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	56	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	12417982	25398284	108453611	78	4434											
PFKM	5213	broad.mit.edu	37	chr12	48536575	48536575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttgcagacctgtgaccGcatcaagcagtcagcagctg	11	13	2	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:48536575G>A	ENST00000340802.6	+	20	2101	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	PFKM_ENST00000312352.7_Missense_Mutation_p.R555H|PFKM_ENST00000359794.5_Missense_Mutation_p.R555H|PFKM_ENST00000395233.2_Missense_Mutation_p.R524H|PFKM_ENST00000547587.1_Missense_Mutation_p.R555H|PFKM_ENST00000551804.1_Missense_Mutation_p.R524H	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	555					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTGTGACCGCATCAAGCAG	0.488													False	0	False	12:48536575	0	A	48536575	G	A	48536575	3	1	56	1	0	0	0	0	1	0	0	0	11834	1087	38	1	1951	1	PFKM	12	48536575	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	23138291	48536575	85315320	79	4435											
CCNT1	904	broad.mit.edu	37	chr12	49087735	49087735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaggagattctgggcaGcatatgcatattgtgacttc	12	6	1	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:49087735G>A	ENST00000261900.3	-	9	1484	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	421					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						ATTCTGGGCAGCATATGCATA	0.463													False	0	False	12:49087735	0	A	49087735	G	A	49087735	3	1	56	1	0	0	0	0	1	0	0	0	2957	971	34	2	922	2	CCNT1	12	49087735	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	551160	49087735	84764160	80	4436											
OSBPL8	114882	broad.mit.edu	37	chr12	76791663	76791663	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataacttggtccagctcttTagagtaccacgaatctacag	7	11	2	1	rs35436760	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:76791663T>C	ENST00000261183.3	-	8	962	c.483A>G	c.(481-483)ctA>ctG	p.L161L	OSBPL8_ENST00000393250.4_Silent_p.L119L|OSBPL8_ENST00000393249.2_Silent_p.L119L	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	161	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TCCAGCTCTTTAGAGTACCAC	0.363													False	0	True	12:76791663	0	C	76791663	T	C	76791663	2	2	56	1	0	0	0	0	0	0	0	1	11351	1741	61	4		4	OSBPL8	12	76791663	Silent	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	27703928	76791663	57060232	81	4437											
ANKS1B	56899	broad.mit.edu	37	chr12	99640630	99640630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggatcattgtcatcctgtCgggagaggtcatctgcaaaa	13	8	4	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:99640630C>T	ENST00000547776.2	-	13	1768	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	ANKS1B_ENST00000329257.7_Missense_Mutation_p.R590Q|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.R170Q	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	590						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTCATCCTGTCGGGAGAGGTC	0.468													False	0	True	12:99640630	0	T	99640630	C	T	99640630	3	4	56	1	0	0	0	0	1	0	0	0	689	884	31	1	2321	1	ANKS1B	12	99640630	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	22848967	99640630	34211265	82	4438											
CUX2	23316	broad.mit.edu	37	chr12	111758041	111758041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccagaacggggccccggCcttggtgaagcaggaggagg	19	10	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:111758041C>A	ENST00000261726.6	+	17	2382	c.2228C>A	c.(2227-2229)gCc>gAc	p.A743D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	743						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGGCCCCGGCCTTGGTGAAG	0.756													False	0	False	12:111758041	0	A	111758041	C	A	111758041	3	1	56	1	0	0	0	0	1	0	0	0	4090	739	26	3	2294	3	CUX2	12	111758041	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	12117411	111758041	22093854	83	4439											
GPR133	283383	broad.mit.edu	37	chr12	131487822	131487822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcacgccccaggtcacCgtggagggctcctctgccat	13	16	2	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:131487822C>T	ENST00000261654.5	+	10	1678	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	GPR133_ENST00000376682.4_Silent_p.T59T|GPR133_ENST00000535015.1_Silent_p.T405T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	373					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCAGGTCACCGTGGAGGGCT	0.612													False	0	False	12:131487822	0	T	131487822	C	T	131487822	2	4	56	1	0	0	0	0	0	0	0	1	6689	639	23	1		1	GPR133	12	131487822	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	19729781	131487822	2364073	84	4440											
IRS2	8660	broad.mit.edu	37	chr13	110434482	110434482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccgggacccggcccccCgcacccgccgccggtgctgc	14	22	0	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:110434482C>T	ENST00000375856.3	-	1	4433	c.3919G>A	c.(3919-3921)Ggg>Agg	p.G1307R		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1307					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CCCGGCCCCCCGCACCCGCCG	0.692													False	0	True	13:110434482	0	T	110434482	C	T	110434482	3	4	56	1	0	0	0	0	1	0	0	0	7891	652	23	1	105	1	IRS2	13	110434482	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		110434482	4735396	85	4441											
POTEM	641455	broad.mit.edu	37	chr14	20019883	20019883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggcccactttgctcttgCcgctccccctgcagcagggg	13	16	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:20019883C>T	ENST00000551509.1	-	1	389	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	113										endometrium(4)|kidney(1)|lung(4)	9						TTTGCTCTTGCCGCTCCCCCT	0.602													False	0	False	14:20019883	0	T	20019883	C	T	20019883	3	4	56	1	0	0	0	0	1	0	0	0	12337	739	26	2	1228	2	POTEM	14	20019883	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		20019883	87329657	86	4442											
YLPM1	56252	broad.mit.edu	37	chr14	75230759	75230759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcctcctgctcagccGtccccttcgcagtccccacc	6	22	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:75230759G>A	ENST00000325680.7	+	1	691	c.567G>A	c.(565-567)ccG>ccA	p.P189P	YLPM1_ENST00000552421.1_Silent_p.P189P|YLPM1_ENST00000238571.3_Silent_p.P189P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	32	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTGCTCAGCCGTCCCCTTCGC	0.597													False	0	False	14:75230759	0	A	75230759	G	A	75230759	2	1	56	1	0	0	0	0	0	0	0	1	17570	1132	40	1		1	YLPM1	14	75230759	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	55210876	75230759	32118781	87	4443											
STON2	85439	broad.mit.edu	37	chr14	81743580	81743580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccattgacacttgtggccGtcctgagtgtgaaaggcaag	12	11	0	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:81743580G>A	ENST00000555447.1	-	6	2487	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	STON2_ENST00000267540.2_Missense_Mutation_p.T692M	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	692	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACTTGTGGCCGTCCTGAGTGT	0.557													False	0	False	14:81743580	0	A	81743580	G	A	81743580	3	1	56	1	0	0	0	0	1	0	0	0	15400	1145	40	1	648	1	STON2	14	81743580	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	6512821	81743580	25605960	88	4444											
LGMN	5641	broad.mit.edu	37	chr14	93199026	93199026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attataccagccatttgaacCtgccacgatcaccacccagt	5	15	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:93199026C>T	ENST00000393218.2	-	3	443	c.106G>A	c.(106-108)Ggt>Agt	p.G36S	LGMN_ENST00000555699.1_Missense_Mutation_p.G36S|LGMN_ENST00000334869.4_Missense_Mutation_p.G36S|LGMN_ENST00000557434.1_Missense_Mutation_p.G36S	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	36					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CCATTTGAACCTGCCACGATC	0.443													False	0	False	14:93199026	0	T	93199026	C	T	93199026	3	4	56	1	0	0	0	0	1	0	0	0	8807	681	24	2	1247	2	LGMN	14	93199026	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	11455446	93199026	14150514	89	4445											
GABRA5	2558	broad.mit.edu	37	chr15	27128316	27128316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtctgtctttcagagcGcatcactcaggtgaggaccg	12	11	5	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:27128316G>A	ENST00000335625.5	+	5	1100	c.212G>A	c.(211-213)cGc>cAc	p.R71H	GABRA5_ENST00000557449.1_Intron|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.R71H|GABRA5_ENST00000400081.3_Missense_Mutation_p.R71H	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	71					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTTCAGAGCGCATCACTCAG	0.612													False	0	False	15:27128316	0	A	27128316	G	A	27128316	3	1	56	1	0	0	0	0	1	0	0	0	6206	1087	38	1	222	1	GABRA5	15	27128316	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		27128316	75403076	90	4446											
RYR3	6263	broad.mit.edu	37	chr15	33954961	33954961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtttgatgatgatgatgttCggcagatcctcctcctgatt	10	8	0	6			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:33954961C>T	ENST00000389232.4	+	35	5300	c.5230C>T	c.(5230-5232)Cgg>Tgg	p.R1744W	RYR3_ENST00000415757.3_Missense_Mutation_p.R1744W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1744	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1744R(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATGATGTTCGGCAGATCCT	0.552													False	0	False	15:33954961	0	T	33954961	C	T	33954961	3	4	56	1	0	0	0	0	1	0	0	0	13849	875	31	1	5368	1	RYR3	15	33954961	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	6826645	33954961	68576431	91	4447											
RYR3	6263	broad.mit.edu	37	chr15	34130099	34130099	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaagctgatgagaatgacaTgtttaattacgttgattttg	10	3	0	5			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:34130099T>C	ENST00000389232.4	+	89	11988	c.11918T>C	c.(11917-11919)aTg>aCg	p.M3973T	RYR3_ENST00000415757.3_Missense_Mutation_p.M3968T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3973					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGAATGACATGTTTAATTAC	0.428													False	0	False	15:34130099	0	C	34130099	T	C	34130099	3	2	56	1	0	0	0	0	1	0	0	0	13849	1464	51	4	12272	4	RYR3	15	34130099	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	175138	34130099	68401293	92	4448											
MYO9A	4649	broad.mit.edu	37	chr15	72338352	72338352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacttgaatgggttaataaCtattagaatactgccaacat	6	6	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:72338352C>T	ENST00000356056.5	-	2	1025	c.553G>A	c.(553-555)Gtt>Att	p.V185I	MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.V185I|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.V185I|MYO9A_ENST00000424560.1_Missense_Mutation_p.V185I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	185	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGTTAATAACTATTAGAATA	0.328													False	0	False	15:72338352	0	T	72338352	C	T	72338352	3	4	56	1	0	0	0	0	1	0	0	0	10151	565	20	2	7257	2	MYO9A	15	72338352	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	38208253	72338352	30193040	93	4449											
WDR90	197335	broad.mit.edu	37	chr16	703653	703653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttccggagcccaatgcaCgttgtctgctctctcaggtg	11	13	3	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:703653C>T	ENST00000549091.1	+	12	1454	c.1362C>T	c.(1360-1362)caC>caT	p.H454H	WDR90_ENST00000293879.4_Silent_p.H454H	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	454										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCCCAATGCACGTTGTCTGCT	0.637													False	0	False	16:703653	0	T	703653	C	T	703653	2	4	56	1	0	0	0	0	0	0	0	1	17421	535	19	1		1	WDR90	16	703653	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		703653	89651100	94	4450											
TBL3	10607	broad.mit.edu	37	chr16	2024605	2024605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagagggcagcgttaccCgcctgtggaaggcgatacac	15	11	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:2024605C>T	ENST00000568546.1	+	5	432	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	102					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CAGCGTTACCCGCCTGTGGAA	0.672													False	0	True	16:2024605	0	T	2024605	C	T	2024605	3	4	56	1	0	0	0	0	1	0	0	0	15725	652	23	1	322	1	TBL3	16	2024605	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	1320952	2024605	88330148	95	4451											
CREBBP	1387	broad.mit.edu	37	chr16	3801767	3801767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcacccagggtcacattctCgccctggatctctgtgaaac	9	14	4	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:3801767C>T	ENST00000262367.5	-	20	4548	c.3739G>A	c.(3739-3741)Gag>Aag	p.E1247K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E1209K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1247	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTCACATTCTCGCCCTGGATC	0.502			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						False	0	False	16:3801767	0	T	3801767	C	T	3801767	3	4	56	1	0	0	0	0	1	0	0	0	3884	893	31	1	3637	1	CREBBP	16	3801767	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	1777162	3801767	86552986	96	4452											
C16orf71	146562	broad.mit.edu	37	chr16	4787893	4787893	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctggctgaagatcctgcCgatggcgacaagtccagggc	15	11	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:4787893C>A	ENST00000299320.5	+	3	700	c.222C>A	c.(220-222)gcC>gcA	p.A74A	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Silent_p.A74A	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	74										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						AAGATCCTGCCGATGGCGACA	0.572													False	0	False	16:4787893	0	A	4787893	C	A	4787893	2	1	56	1	0	0	0	0	0	0	0	1	1840	639	23	3		3	C16orf71	16	4787893	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	986126	4787893	85566860	97	4453											
DNAH3	55567	broad.mit.edu	37	chr16	20976524	20976524	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccttggccacgcgatcGtacacctccatggccctcac	7	19	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:20976524G>A	ENST00000261383.3	-	53	8681	c.8682C>T	c.(8680-8682)taC>taT	p.Y2894Y	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2894	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCACGCGATCGTACACCTCCA	0.562													False	0	False	16:20976524	0	A	20976524	G	A	20976524	2	1	56	1	0	0	0	0	0	0	0	1	4633	1140	40	1		1	DNAH3	16	20976524	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	16188631	20976524	69378229	98	4454											
ATP2A1	487	broad.mit.edu	37	chr16	28912189	28912189	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtggagccctcgcacaaGtccaagattgtggagtacct	12	11	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:28912189G>C	ENST00000395503.4	+	15	2236	c.2052G>C	c.(2050-2052)aaG>aaC	p.K684N	ATP2A1_ENST00000357084.3_Missense_Mutation_p.K684N|ATP2A1_ENST00000536376.1_Missense_Mutation_p.K559N	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	684					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCTCGCACAAGTCCAAGATTG	0.627													False	0	False	16:28912189	0	C	28912189	G	C	28912189	3	2	56	1	0	0	0	0	1	0	0	0	1140	1020	36	5	2110	5	ATP2A1	16	28912189	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	7935665	28912189	61442564	99	4455											
PRPF8	10594	broad.mit.edu	37	chr17	1576724	1576724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcacttaggcaggatgCggcactcgaagccacacatg	13	12	0	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:1576724C>T	ENST00000572621.1	-	22	3849	c.3584G>A	c.(3583-3585)cGc>cAc	p.R1195H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1195H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1195						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGGCAGGATGCGGCACTCGAA	0.572													False	0	False	17:1576724	0	T	1576724	C	T	1576724	3	4	56	1	0	0	0	0	1	0	0	0	12651	768	27	1	3507	1	PRPF8	17	1576724	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		1576724	79618486	100	4456											
TP53	7157	broad.mit.edu	37	chr17	7578538	7578538	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagttggcaaaacatcttgTtgagggcaggggagtactgt	14	7	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:7578538T>A	ENST00000420246.2	-	5	524	c.392A>T	c.(391-393)aAc>aTc	p.N131I	TP53_ENST00000455263.2_Missense_Mutation_p.N131I|TP53_ENST00000413465.2_Missense_Mutation_p.N131I|TP53_ENST00000269305.4_Missense_Mutation_p.N131I|TP53_ENST00000445888.2_Missense_Mutation_p.N131I|TP53_ENST00000359597.4_Missense_Mutation_p.N131I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	131	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAACATCTTGTTGAGGGCAGG	0.557		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)			False	0	False	17:7578538	0	A	7578538	T	A	7578538	3	1	56	1	0	0	0	0	1	0	0	0	16464	1725	60	5	906	5	TP53	17	7578538	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	6001814	7578538	73616672	101	4457											
DHRS7C	201140	broad.mit.edu	37	chr17	9684814	9684814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaccttgctggggtcagcCacgctgatcaaggcatcata	10	12	3	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:9684814C>T	ENST00000330255.5	-	2	264	c.252G>A	c.(250-252)gtG>gtA	p.V84V	DHRS7C_ENST00000571134.1_Silent_p.V84V	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C							extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TGGGGTCAGCCACGCTGATCA	0.552													False	0	False	17:9684814	0	T	9684814	C	T	9684814	2	4	56	1	0	0	0	0	0	0	0	1	4527	581	21	2		2	DHRS7C	17	9684814	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	2106276	9684814	71510396	102	4458											
KRT14	3861	broad.mit.edu	37	chr17	39740094	39740094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcatctcgttcagaatgCggctcaggtccacgccaggt	11	14	3	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:39740094C>T	ENST00000167586.6	-	4	931	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	282	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GTTCAGAATGCGGCTCAGGTC	0.562													False	0	False	17:39740094	0	T	39740094	C	T	39740094	3	4	56	1	0	0	0	0	1	0	0	0	8501	768	27	1	593	1	KRT14	17	39740094	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	30055280	39740094	41455116	103	4459											
EFTUD2	9343	broad.mit.edu	37	chr17	42953434	42953434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagcctctcctgcaccGcatgcttgatcagccgctct	8	18	3	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:42953434G>A	ENST00000426333.2	-	10	1034	c.737C>T	c.(736-738)gCg>gTg	p.A246V	EFTUD2_ENST00000591382.1_Missense_Mutation_p.A246V|EFTUD2_ENST00000592576.1_Missense_Mutation_p.A236V|EFTUD2_ENST00000402521.3_Missense_Mutation_p.A211V	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	246						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTCCTGCACCGCATGCTTGAT	0.517													False	0	False	17:42953434	0	A	42953434	G	A	42953434	3	1	56	1	0	0	0	0	1	0	0	0	4991	1087	38	1	2257	1	EFTUD2	17	42953434	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	3213340	42953434	38241776	104	4460											
GFAP	2670	broad.mit.edu	37	chr17	42990738	42990738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggtgaggtctggcttggCcacgtcaagctccacatgga	14	11	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:42990738C>T	ENST00000253408.5	-	4	744	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.A227T|GFAP_ENST00000586793.1_Missense_Mutation_p.A227T	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	227	Linker 12.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCTGGCTTGGCCACGTCAAGC	0.607													False	0	False	17:42990738	0	T	42990738	C	T	42990738	3	4	56	1	0	0	0	0	1	0	0	0	6382	739	26	2	772	2	GFAP	17	42990738	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	37304	42990738	38204472	105	4461											
RNF43	54894	broad.mit.edu	37	chr17	56448270	56448270	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagggcgaagtgtgagtctAccttgctagccagtgacagg	15	8	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:56448270A>G	ENST00000584437.1	-	2	2331		c.e2+1		BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Splice_Site|RNF43_ENST00000581868.1_Splice_Site|RNF43_ENST00000577716.1_Splice_Site|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000577625.1_Splice_Site|RNF43_ENST00000583753.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43							endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGTGAGTCTACCTTGCTAGC	0.582													False	0	False	17:56448270	0	G	56448270	A	G	56448270	5	3	56	1	0	0	0	0	0	0	1	0	13574	405	14	4	2006	4	RNF43	17	56448270	Splice_Site	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	13457532	56448270	24746940	106	4462											
ARHGAP28	79822	broad.mit.edu	37	chr18	6859874	6859874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggataaagaagggagttttgCggttcccaggagtgactctg	15	6	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:6859874C>T	ENST00000419673.2	+	4	444	c.227C>T	c.(226-228)gCg>gTg	p.A76V	ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.A235V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	58					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGGAGTTTTGCGGTTCCCAGG	0.433													False	0	False	18:6859874	0	T	6859874	C	T	6859874	3	4	56	1	0	0	0	0	1	0	0	0	879	768	27	1	237	1	ARHGAP28	18	6859874	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		6859874	71217374	107	4463											
ANKRD12	23253	broad.mit.edu	37	chr18	9255365	9255365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattttggaaagagaatttTtttaaaagtgatgaaactga	9	1	0	4			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:9255365T>C	ENST00000262126.4	+	9	2340	c.2100T>C	c.(2098-2100)ttT>ttC	p.F700F	ANKRD12_ENST00000400020.3_Silent_p.F677F|ANKRD12_ENST00000383440.2_Silent_p.F677F	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						aagagaatttttttaaaagtg	0.279													False	0	True	18:9255365	0	C	9255365	T	C	9255365	2	2	56	1	0	0	0	0	0	0	0	1	640	1838	64	4		4	ANKRD12	18	9255365	Silent	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	2395491	9255365	68821883	108	4464											
ARID3A	1820	broad.mit.edu	37	chr19	964984	964984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgccaggcggggcacacGgcatgctctcctcacccaag	11	17	2	0	rs143163296		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:964984G>A	ENST00000263620.3	+	6	1429	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	368						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGCACACGGCATGCTCTC	0.642													False	0	False	19:964984	0	A	964984	G	A	964984	3	1	56	1	0	0	0	0	1	0	0	0	918	1116	39	1	1120	1	ARID3A	19	964984	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		964984	58163999	109	4465											
C3	718	broad.mit.edu	37	chr19	6714178	6714178	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccctcctcctcttaccGtactccttcacctcaaactc	2	21	3	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:6714178G>A	ENST00000245907.6	-	6	773	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	227					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCTCTTACCGTACTCCTTCA	0.612													False	0	False	19:6714178	0	A	6714178	G	A	6714178	5	1	56	1	0	0	0	0	0	0	1	0	2220	1159	40	1	4454	1	C3	19	6714178	Splice_Site	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	5749194	6714178	52414805	110	4466											
ILF3	3609	broad.mit.edu	37	chr19	10793838	10793838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgatcctgacaaagcacgGcaagaacccagtcatggagc	11	13	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:10793838G>A	ENST00000449870.1	+	14	1903	c.1586G>A	c.(1585-1587)gGc>gAc	p.G529D	ILF3_ENST00000407004.3_Missense_Mutation_p.G529D|ILF3_ENST00000590261.1_Missense_Mutation_p.G525D|ILF3_ENST00000250241.8_Missense_Mutation_p.G525D|ILF3_ENST00000420083.1_Missense_Mutation_p.G525D|ILF3_ENST00000318511.3_Missense_Mutation_p.G525D|ILF3_ENST00000589998.1_Missense_Mutation_p.G525D|ILF3_ENST00000592763.1_Missense_Mutation_p.G529D|ILF3_ENST00000588657.1_Missense_Mutation_p.G529D	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	525	DRBM 2.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ACAAAGCACGGCAAGAACCCA	0.557													False	0	False	19:10793838	0	A	10793838	G	A	10793838	3	1	56	1	0	0	0	0	1	0	0	0	7762	1203	42	2	1636	2	ILF3	19	10793838	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	4079660	10793838	48335145	111	4467											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	56	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-HV-A7OL-01A-11D-A33T-08	3289829	14083667	45045316	112	4468											
UPF1	5976	broad.mit.edu	37	chr19	18960909	18960909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaatcaccttgtgaggGcaaaatgcaaagaggtgacc	11	7	1	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:18960909G>A	ENST00000262803.5	+	4	759	c.487G>A	c.(487-489)Gca>Aca	p.A163T	UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000599848.1_Missense_Mutation_p.A163T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	163	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	p.A163T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCTTGTGAGGGCAAAATGCAA	0.517													False	0	True	19:18960909	0	A	18960909	G	A	18960909	3	1	56	1	0	0	0	0	1	0	0	0	17087	1203	42	2	501	2	UPF1	19	18960909	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	4877242	18960909	40168074	113	4469											
PEPD	5184	broad.mit.edu	37	chr19	33991872	33991872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtactggacgtcgtccacgGcatacttctccttgaagtgc	10	13	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:33991872G>A	ENST00000244137.7	-	4	398	c.365C>T	c.(364-366)gCc>gTc	p.A122V	PEPD_ENST00000436370.3_Intron|PEPD_ENST00000397032.4_Missense_Mutation_p.A122V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D						cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	p.A122V(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					GTCGTCCACGGCATACTTCTC	0.557													False	0	False	19:33991872	0	A	33991872	G	A	33991872	3	1	56	1	0	0	0	0	1	0	0	0	11796	1203	42	2	1164	2	PEPD	19	33991872	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	15030963	33991872	25137111	114	4470											
MAP4K1	11184	broad.mit.edu	37	chr19	39100239	39100239	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggattctctactcacgacAgcagtctgcatctgggatcc	9	12	4	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:39100239A>G	ENST00000591517.1	-	13	1031	c.1003T>C	c.(1003-1005)Tgt>Cgt	p.C335R	MAP4K1_ENST00000586296.1_Splice_Site_p.C335R|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.C331R|MAP4K1_ENST00000396857.2_Missense_Mutation_p.C335R|MAP4K1_ENST00000589002.1_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	335					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TACTCACGACAGCAGTCTGCA	0.582													False	0	False	19:39100239	0	G	39100239	A	G	39100239	3	3	56	1	0	0	0	0	1	0	0	0	9326	188	7	4	1640	4	MAP4K1	19	39100239	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	5108367	39100239	20028744	115	4471											
CEACAM4	1089	broad.mit.edu	37	chr19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctcgaccactgtatgCggcccctgggatatttgctt	10	12	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral to plasma membrane|membrane fraction		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488													False	0	False	19:42132119	0	T	42132119	C	T	42132119	3	4	56	1	0	0	0	0	1	0	0	0	3217	768	27	1	478	1	CEACAM4	19	42132119	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	3031880	42132119	16996864	116	4472											
TRPM4	54795	broad.mit.edu	37	chr19	49671336	49671336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcgtcgtgggctggtgCgggctgcccagagcacaggt	18	11	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:49671336C>T	ENST00000252826.5	+	4	556	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	TRPM4_ENST00000427978.2_Missense_Mutation_p.R144W|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	144					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGGGCTGGTGCGGGCTGCCCA	0.731													False	0	True	19:49671336	0	T	49671336	C	T	49671336	3	4	56	1	0	0	0	0	1	0	0	0	16671	759	27	1	444	1	TRPM4	19	49671336	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	7539217	49671336	9457647	117	4473											
PRMT1	0	broad.mit.edu	37	chr19	50189963	50189963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcggcaccatcggcatgCggcccaacgccaagaacaac	9	16	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:50189963C>T	ENST00000532489.1	+	10	1380	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	PRMT1_ENST00000454376.2_Missense_Mutation_p.R338W|PRMT1_ENST00000391851.4_Missense_Mutation_p.R320W			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	319						cytoplasm	protein methyltransferase activity	p.R314W(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CATCGGCATGCGGCCCAACGC	0.647													False	0	False	19:50189963	0	T	50189963	C	T	50189963	3	4	56	1	0	0	0	0	1	0	0	0	12611	759	27	1	1050	1	PRMT1	19	50189963	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	518627	50189963	8939020	118	4474											
KLK7	5650	broad.mit.edu	37	chr19	51480876	51480876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggtcattgggttggccGcaagggaaagttccccagga	15	10	1	0	rs17855561		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:51480876G>A	ENST00000391807.1	-	6	779	c.678C>T	c.(676-678)tgC>tgT	p.C226C	KLK7_ENST00000336317.4_Silent_p.C113C|KLK7_ENST00000597707.1_Silent_p.C154C|KLK7_ENST00000595820.1_Silent_p.C226C|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	226	Peptidase S1.			C -> W (in Ref. 6; AAH32005).	epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	p.C226C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGGGTTGGCCGCAAGGGAAAG	0.517													False	0	False	19:51480876	0	A	51480876	G	A	51480876	2	1	56	1	0	0	0	0	0	0	0	1	8459	1079	38	1		1	KLK7	19	51480876	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	1290913	51480876	7648107	119	4475											
ZNF677	342926	broad.mit.edu	37	chr19	53740485	53740485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgagtaagatttgaacGttcagtaaaggctttgccac	10	7	1	3	rs140137479		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:53740485G>A	ENST00000333952.4	-	5	1660	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ZNF677_ENST00000598513.1_Missense_Mutation_p.R499C			Q86XU0	ZN677_HUMAN	zinc finger protein 677	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGATTTGAACGTTCAGTAAAG	0.383													False	0	False	19:53740485	0	A	53740485	G	A	53740485	3	1	56	1	0	0	0	0	1	0	0	0	18167	1145	40	1	263	1	ZNF677	19	53740485	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	2259609	53740485	5388498	120	4476											
KIR2DL1	3802	broad.mit.edu	37	chr19	55284925	55284925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtttaacgacactttgCgcctcattggagaacaccat	9	10	1	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:55284925C>T	ENST00000336077.6	+	3	251	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R71C|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	71	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CGACACTTTGCGCCTCATTGG	0.507													False	0	False	19:55284925	0	T	55284925	C	T	55284925	3	4	56	1	0	0	0	0	1	0	0	0	8366	768	27	1	221	1	KIR2DL1	19	55284925	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	1544440	55284925	3844058	121	4477											
ZNF581	51545	broad.mit.edu	37	chr19	56156512	56156512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacacactgcagaaacacaCgcggtggaagcatccatgag	11	11	0	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:56156512C>T	ENST00000587252.1	+	2	848	c.575C>T	c.(574-576)aCg>aTg	p.T192M	ZNF581_ENST00000270451.5_Missense_Mutation_p.T192M|ZNF581_ENST00000588537.1_Missense_Mutation_p.T192M			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CAGAAACACACGCGGTGGAAG	0.632													False	0	True	19:56156512	0	T	56156512	C	T	56156512	3	4	56	1	0	0	0	0	1	0	0	0	18096	536	19	1	577	1	ZNF581	19	56156512	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	871587	56156512	2972471	122	4478											
TRIM28	10155	broad.mit.edu	37	chr19	59061796	59061796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcttcttcgagacgcGcatgaacgaggccttcggtg	14	12	1	2			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:59061796G>A	ENST00000253024.5	+	17	2673	c.2384G>A	c.(2383-2385)cGc>cAc	p.R795H	TRIM28_ENST00000341753.6_Missense_Mutation_p.R713H	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	795	Bromo.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTCGAGACGCGCATGAACGAG	0.602													False	0	False	19:59061796	0	A	59061796	G	A	59061796	3	1	56	1	0	0	0	0	1	0	0	0	16585	1087	38	1	2450	1	TRIM28	19	59061796	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	2905284	59061796	67187	123	4479											
RASSF2	9770	broad.mit.edu	37	chr20	4771183	4771183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtcctcacattgccacggcGacgcaccccaacatcactgc	7	19	2	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:4771183G>A	ENST00000379400.3	-	7	646	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R151C	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	151					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TTGCCACGGCGACGCACCCCA	0.592													False	0	False	20:4771183	0	A	4771183	G	A	4771183	3	1	56	1	0	0	0	0	1	0	0	0	13165	1058	37	1	553	1	RASSF2	20	4771183	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08		4771183	58254337	124	4480											
ADA	100	broad.mit.edu	37	chr20	43257762	43257762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgtccatgccaatgacGttcagcagcccctctgctgt	10	14	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:43257762G>A	ENST00000372874.4	-	3	278	c.144C>T	c.(142-144)aaC>aaT	p.N48N	ADA_ENST00000537820.1_Silent_p.N48N	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	48					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGCCAATGACGTTCAGCAGCC	0.592									Adenosine Deaminase Deficiency				False	0	False	20:43257762	0	A	43257762	G	A	43257762	2	1	56	1	0	0	0	0	0	0	0	1	230	1136	40	1		1	ADA	20	43257762	Silent	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	38486579	43257762	19767758	125	4481											
PABPC1L	80336	broad.mit.edu	37	chr20	43545506	43545506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatgctgctgaatgaccGcaaagtgtgagtggctgggc	17	7	0	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:43545506G>A	ENST00000255136.3	+	3	579	c.497G>A	c.(496-498)cGc>cAc	p.R166H	PABPC1L_ENST00000217073.2_Missense_Mutation_p.R166H|PABPC1L_ENST00000217074.4_Missense_Mutation_p.R166H|PABPC1L_ENST00000537323.1_Missense_Mutation_p.R166H	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	166	RRM 2.						nucleotide binding|RNA binding	p.R166H(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CTGAATGACCGCAAAGTGTGA	0.592													False	0	False	20:43545506	0	A	43545506	G	A	43545506	3	1	56	1	0	0	0	0	1	0	0	0	11432	1087	38	1	507	1	PABPC1L	20	43545506	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	287744	43545506	19480014	126	4482											
ZNF217	7764	broad.mit.edu	37	chr20	52198591	52198591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcctccctcgaggacgGcattcctccttgtggagagt	12	12	0	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:52198591G>A	ENST00000371471.2	-	2	1200	c.775C>T	c.(775-777)Ccg>Tcg	p.P259S	ZNF217_ENST00000302342.3_Missense_Mutation_p.P259S			O75362	ZN217_HUMAN	zinc finger protein 217	259					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTCGAGGACGGCATTCCTCCT	0.512													False	0	False	20:52198591	0	A	52198591	G	A	52198591	3	1	56	1	0	0	0	0	1	0	0	0	17855	1203	42	2	2387	2	ZNF217	20	52198591	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	8653085	52198591	10826929	127	4483											
ADRM1	11047	broad.mit.edu	37	chr20	60883799	60883799	+	Missense_Mutation	SNP	G	G	T													gacaagaaggacgaagaggaGgacatgagcctggactgagc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:60883799G>T	ENST00000253003.2	+	10	1252	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	LAMA5_ENST00000492698.1_Intron	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	402	Interaction with UCHL5.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			ACGAAGAGGAGGACATGAGCC	0.557													False	0	False	20:60883799	0	T	60883799	G	T	60883799	3	4	56	1	0	0	0	0	1	0	0	0	345	991	35	3	1240	3	ADRM1	20	60883799	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	8685208	60883799	2141721	128	4484	42	2									
ADRM1	11047	broad.mit.edu	37	chr20	60883800	60883800	+	Missense_Mutation	SNP	G	G	T													acaagaaggacgaagaggagGacatgagcctggactgagcc							TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:60883800G>T	ENST00000253003.2	+	10	1253	c.1207G>T	c.(1207-1209)Gac>Tac	p.D403Y	LAMA5_ENST00000492698.1_Intron	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	403	Interaction with UCHL5.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CGAAGAGGAGGACATGAGCCT	0.562													False	0	False	20:60883800	0	T	60883800	G	T	60883800	3	4	56	1	0	0	0	0	1	0	0	0	345	1174	41	3	1241	3	ADRM1	20	60883800	Missense_Mutation	SNP	G	TCGA-HV-A7OL-01A-11D-A33T-08	1	60883800	2141720	129	4485	42	2									
C20orf195	79025	broad.mit.edu	37	chr20	62187669	62187669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgaccgaaaggcgtcggCggctcaccaggactgggccc	15	13	1	1	rs117659219	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:62187669C>T	ENST00000370098.3	+	2	745	c.653C>T	c.(652-654)gCg>gTg	p.A218V	C20orf195_ENST00000370097.1_Missense_Mutation_p.A218V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	218										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AAGGCGTCGGCGGCTCACCAG	0.622													False	0	False	20:62187669	0	T	62187669	C	T	62187669	3	4	56	1	0	0	0	0	1	0	0	0	2116	768	27	1	655	1	C20orf195	20	62187669	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	1303869	62187669	837851	130	4486											
UMODL1	89766	broad.mit.edu	37	chr21	43543258	43543258	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgggaccctcatgcagAgcgtaagaccaggagagcca	14	10	1	3			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr21:43543258A>C	ENST00000400424.2	+	17	3325	c.2929A>C	c.(2929-2931)Agc>Cgc	p.S977R	UMODL1_ENST00000408989.2_Missense_Mutation_p.S1177R|UMODL1_ENST00000408910.2_Missense_Mutation_p.S1049R|UMODL1_ENST00000400427.1_Missense_Mutation_p.S1105R|UMODL1_ENST00000400423.2_3'UTR	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1							cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTCATGCAGAGCGTAAGACC	0.622													False	0	False	21:43543258	0	C	43543258	A	C	43543258	3	2	56	1	0	0	0	0	1	0	0	0	17064	304	11	4	3591	4	UMODL1	21	43543258	Missense_Mutation	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08		43543258	4586637	131	4487											
RFPL1	5988	broad.mit.edu	37	chr22	29834846	29834846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaattttcttcccttgtgCacttttcccctggcagtgga	9	11	1	0	rs61734572		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr22:29834846C>T	ENST00000354373.2	+	1	275	c.66C>T	c.(64-66)tgC>tgT	p.C22C	RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	22							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TTCCCTTGTGCACTTTTCCCC	0.478													False	0	False	22:29834846	0	T	29834846	C	T	29834846	2	4	56	1	0	0	0	0	0	0	0	1	13332	718	25	2		2	RFPL1	22	29834846	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		29834846	21469720	132	4488											
SCML1	6322	broad.mit.edu	37	chrX	17770059	17770059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatcctcttgcattatgCcctcttgtcgacctcttcag	6	14	4	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:17770059C>T	ENST00000380043.3	+	6	1075	c.747C>T	c.(745-747)tgC>tgT	p.C249C	SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C|SCML1_ENST00000380045.3_Silent_p.C155C	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448													False	0	True	X:17770059	0	T	17770059	C	T	17770059	2	4	56	1	0	0	0	0	0	0	0	1	13990	747	26	2		2	SCML1	23	17770059	Silent	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08		17770059	137500501	133	4489											
PCDH11X	27328	broad.mit.edu	37	chrX	91090548	91090548	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcgcggtcctgctagcAtgcgtggtgttccactctgg	12	11	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:91090548A>G	ENST00000373094.1	+	1	890	c.45A>G	c.(43-45)gcA>gcG	p.A15A	PCDH11X_ENST00000406881.1_Silent_p.A15A|PCDH11X_ENST00000373088.1_Silent_p.A15A|PCDH11X_ENST00000504220.2_Silent_p.A15A|PCDH11X_ENST00000373097.1_Silent_p.A15A|PCDH11X_ENST00000361724.1_Silent_p.A15A|PCDH11X_ENST00000395337.2_Silent_p.A15A|PCDH11X_ENST00000361655.2_Silent_p.A15A|PCDH11X_ENST00000298274.8_Silent_p.A15A	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	15					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCCTGCTAGCATGCGTGGTGT	0.478													False	0	False	X:91090548	0	G	91090548	A	G	91090548	2	3	56	1	0	0	0	0	0	0	0	1	11576	204	8	4		4	PCDH11X	23	91090548	Silent	SNP	A	TCGA-HV-A7OL-01A-11D-A33T-08	73320489	91090548	64180012	134	4490											
DIAPH2	1730	broad.mit.edu	37	chrX	96185760	96185760	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcagtttataaatgcccTtgtcacttctccttatgagc	6	11	2	1			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:96185760T>G	ENST00000324765.8	+	10	1354	c.1007T>G	c.(1006-1008)cTt>cGt	p.L336R	DIAPH2_ENST00000373049.4_Missense_Mutation_p.L336R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L336R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L336R|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L332R			O60879	DIAP2_HUMAN	diaphanous-related formin 2	336	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATAAATGCCCTTGTCACTTCT	0.303													False	0	True	X:96185760	0	G	96185760	T	G	96185760	3	3	56	1	0	0	0	0	1	0	0	0	4549	1609	56	4	1045	4	DIAPH2	23	96185760	Missense_Mutation	SNP	T	TCGA-HV-A7OL-01A-11D-A33T-08	5095212	96185760	59084800	135	4491											
NSDHL	50814	broad.mit.edu	37	chrX	152037520	152037520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccaccttcacacccatgCgggtcgcactggctggcaca	10	17	1	0			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:152037520C>T	ENST00000370274.3	+	8	1176	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	NSDHL_ENST00000440023.1_Missense_Mutation_p.R328W	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	328					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CACACCCATGCGGGTCGCACT	0.582													False	0	True	X:152037520	0	T	152037520	C	T	152037520	3	4	56	1	0	0	0	0	1	0	0	0	10738	759	27	1	1008	1	NSDHL	23	152037520	Missense_Mutation	SNP	C	TCGA-HV-A7OL-01A-11D-A33T-08	55851760	152037520	3233040	136	4492											
AADACL3	126767	broad.mit.edu	37	chr1	12785321	12785321	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtctgcggtgacagtttCggaggggcaatagccgcagt	17	8	1	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:12785321C>T	ENST00000332530.3	+	3	427	c.201C>T	c.(199-201)ttC>ttT	p.F67F	AADACL3_ENST00000359318.5_Silent_p.F137F	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	137							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACAGTTTCGGAGGGGCAA	0.572													False	0	True	1:12785321	0	T	12785321	C	T	12785321	2	4	57	1	0	0	0	0	0	0	0	1	12	883	31	1		1	AADACL3	1	12785321	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08		12785321	236465300	1	4493											
UBR4	23352	broad.mit.edu	37	chr1	19488970	19488970	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactcctccacccagtctgAgtctacttcaatggcccgct	6	17	3	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:19488970A>G	ENST00000375267.2	-	35	4903	c.4900T>C	c.(4900-4902)Tca>Cca	p.S1634P	UBR4_ENST00000375254.3_Missense_Mutation_p.S1634P|UBR4_ENST00000375217.2_Missense_Mutation_p.S1634P|UBR4_ENST00000375226.2_Missense_Mutation_p.S1634P			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1634					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCCAGTCTGAGTCTACTTCA	0.507													False	0	False	1:19488970	0	G	19488970	A	G	19488970	3	3	57	1	0	0	0	0	1	0	0	0	16988	304	11	4	10939	4	UBR4	1	19488970	Missense_Mutation	SNP	A	TCGA-HV-AA8V-01A-11D-A40W-08	6703649	19488970	229761651	2	4494											
NBPF9	400818	broad.mit.edu	37	chr1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A													agtcttgcaggactcactggGtagatggtattcgactcctt					rs558823		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	NM_001037675.2	NP_001032764.2			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493													False	0	True	1:144825409	0	A	144825409	G	A	144825409	3	1	57	1	0	0	0	0	1	0	0	0	10267	1261	44	2	2195	2	NBPF9	1	144825409	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	125336439	144825409	104425212	3	4495	43	2									
NBPF9	400818	broad.mit.edu	37	chr1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T													caggactcactgggtagatgGtattcgactccttcaggtta							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron	NM_001037675.2	NP_001032764.2			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498													False	0	False	1:144825416	0	T	144825416	G	T	144825416	3	4	57	1	0	0	0	0	1	0	0	0	10267	1270	44	3	2202	3	NBPF9	1	144825416	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	7	144825416	104425205	4	4496	43	2									
FLG	2312	broad.mit.edu	37	chr1	152285654	152285654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcctcatttcgtgtttGtctgcttgcacttctggatc	8	10	3	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:152285654G>T	ENST00000368799.1	-	3	1743	c.1708C>A	c.(1708-1710)Caa>Aaa	p.Q570K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	570	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCGTGTTTGTCTGCTTGCA	0.537									Ichthyosis				False	0	True	1:152285654	0	T	152285654	G	T	152285654	3	4	57	1	0	0	0	0	1	0	0	0	5962	1386	48	3	10481	3	FLG	1	152285654	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	7460238	152285654	96964967	5	4497											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	57	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-HV-AA8V-01A-11D-A40W-08	385861	152671515	96579106	6	4498											
ADCY10	55811	broad.mit.edu	37	chr1	167802257	167802257	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctcttgggcctgccgattCacataatgaaagtgtctgtt	9	10	3	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:167802257C>A	ENST00000367848.1	-	25	3782	c.3285G>T	c.(3283-3285)gtG>gtT	p.V1095V	ADCY10_ENST00000367851.4_Silent_p.V1187V|ADCY10_ENST00000545172.1_Silent_p.V1034V			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1187					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCTGCCGATTCACATAATGAA	0.488													False	0	False	1:167802257	0	A	167802257	C	A	167802257	2	1	57	1	0	0	0	0	0	0	0	1	293	813	29	3		3	ADCY10	1	167802257	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	15130742	167802257	81448364	7	4499											
MAP4K3	8491	broad.mit.edu	37	chr2	39526942	39526942	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tccatattccagttgcagatCctaatagtacaaaataaaat	4	8	0	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:39526942C>A	ENST00000263881.3	-	16	1444	c.1120G>T	c.(1120-1122)Gat>Tat	p.D374Y	MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Splice_Site_p.D290Y|MAP4K3_ENST00000341681.5_Splice_Site_p.D353Y	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	374					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGTTGCAGATCCTAATAGTAC	0.264													False	0	False	2:39526942	0	A	39526942	C	A	39526942	5	1	57	1	0	0	0	0	0	0	1	0	9328	869	30	3	1640	3	MAP4K3	2	39526942	Splice_Site	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08		39526942	203672431	8	4500											
FZD7	8324	broad.mit.edu	37	chr2	202900208	202900208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctacctggtggacatgCggcgcttcagctacccagag	11	14	2	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:202900208C>T	ENST00000286201.1	+	1	899	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	280					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGTGGACATGCGGCGCTTCAG	0.662											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:202900208	0	T	202900208	C	T	202900208	3	4	57	1	0	0	0	0	1	0	0	0	6177	759	27	1	840	1	FZD7	2	202900208	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	163373266	202900208	40299165	9	4501											
ABCB6	10058	broad.mit.edu	37	chr2	220078577	220078577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcagtgacaaagtatgCgcaaagcagggagccggcga	14	10	1	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:220078577C>T	ENST00000265316.3	-	9	1865	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	ABCB6_ENST00000439002.2_Missense_Mutation_p.A471T	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	517	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAAAGTATGCGCAAAGCAGG	0.562													False	0	False	2:220078577	0	T	220078577	C	T	220078577	3	4	57	1	0	0	0	0	1	0	0	0	45	768	27	1	1023	1	ABCB6	2	220078577	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	17178369	220078577	23120796	10	4502											
IRS1	3667	broad.mit.edu	37	chr2	227660886	227660886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggacagcctcgtgggccGggccaggcggctattggtct	17	12	1	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:227660886G>A	ENST00000305123.5	-	1	3589	c.2569C>T	c.(2569-2571)Cgg>Tgg	p.R857W		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTCGTGGGCCGGGCCAGGCGG	0.662													False	0	True	2:227660886	0	A	227660886	G	A	227660886	3	1	57	1	0	0	0	0	1	0	0	0	7890	1115	39	1	1163	1	IRS1	2	227660886	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	7582309	227660886	15538487	11	4503											
HJURP	55355	broad.mit.edu	37	chr2	234749480	234749480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagttgagcccagtagaCtttttctgcaccccaggggt	11	11	1	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:234749480C>A	ENST00000411486.2	-	8	2011	c.1946G>T	c.(1945-1947)aGt>aTt	p.S649I	HJURP_ENST00000432087.1_Missense_Mutation_p.S595I|HJURP_ENST00000441687.1_Missense_Mutation_p.S564I	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	649					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GCCCAGTAGACTTTTTCTGCA	0.488													False	0	True	2:234749480	0	A	234749480	C	A	234749480	3	1	57	1	0	0	0	0	1	0	0	0	7236	565	20	3	308	3	HJURP	2	234749480	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	7088594	234749480	8449893	12	4504											
CNTN4	152330	broad.mit.edu	37	chr3	3084848	3084848	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacaacccgaaagccacGtaagaacagacttgctcaga	9	11	1	4			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:3084848G>A	ENST00000397461.1	+	21	3082		c.e21+1		CNTN4_ENST00000397459.2_Splice_Site|CNTN4_ENST00000418658.1_Splice_Site|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Splice_Site|CNTN4_ENST00000358480.3_Splice_Site|CNTN4_ENST00000448906.2_Splice_Site	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4						axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CGAAAGCCACGTAAGAACAGA	0.428													False	0	False	3:3084848	0	A	3084848	G	A	3084848	5	1	57	1	0	0	0	0	0	0	1	0	3666	1159	40	1	2773	1	CNTN4	3	3084848	Splice_Site	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		3084848	194937582	13	4505											
SACM1L	22908	broad.mit.edu	37	chr3	45751115	45751115	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccaacactagtcctgaattCcaagaaatgagtctcttgga	7	10	1	3			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:45751115C>T	ENST00000389061.5	+	5	663	c.459C>T	c.(457-459)ttC>ttT	p.F153F	SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Silent_p.F92F|SACM1L_ENST00000418611.1_Silent_p.F50F	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	153	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GTCCTGAATTCCAAGAAATGA	0.343													False	0	False	3:45751115	0	T	45751115	C	T	45751115	2	4	57	1	0	0	0	0	0	0	0	1	13882	854	30	2		2	SACM1L	3	45751115	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	42666267	45751115	152271315	14	4506											
CACNA1D	776	broad.mit.edu	37	chr3	53769492	53769492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagcgctgccctggccGcagaggaccccatccgcagc	13	17	0	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:53769492G>A	ENST00000288139.4	+	21	2891	c.2773G>A	c.(2773-2775)Gca>Aca	p.A925T	CACNA1D_ENST00000350061.5_Missense_Mutation_p.A905T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGCCCTGGCCGCAGAGGACCC	0.627													False	0	False	3:53769492	0	A	53769492	G	A	53769492	3	1	57	1	0	0	0	0	1	0	0	0	2561	1087	38	1	2963	1	CACNA1D	3	53769492	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	8018377	53769492	144252938	15	4507											
GATA2	2624	broad.mit.edu	37	chr3	128199973	128199973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccggagtggctgaagggCgggaggtggcccacaggtgc	20	9	0	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:128199973C>T	ENST00000341105.2	-	6	1663	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P	GATA2_ENST00000487848.1_Silent_p.P444P|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Silent_p.P430P	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	444					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P444P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGCTGAAGGGCGGGAGGTGGC	0.657			Mis		AML(CML blast transformation)								False	0	True	3:128199973	0	T	128199973	C	T	128199973	2	4	57	1	0	0	0	0	0	0	0	1	6297	755	27	1		1	GATA2	3	128199973	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	74430481	128199973	69822457	16	4508											
LRRIQ4	344657	broad.mit.edu	37	chr3	169550783	169550783	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatcttttcagctttgaaaGaattacggctggaggacaac	9	7	2	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:169550783G>A	ENST00000340806.6	+	4	1342	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	448										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGCTTTGAAAGAATTACGGCT	0.403													False	0	True	3:169550783	0	A	169550783	G	A	169550783	3	1	57	1	0	0	0	0	1	0	0	0	9093	943	33	2	1356	2	LRRIQ4	3	169550783	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	41350810	169550783	28471647	17	4509											
PARL	55486	broad.mit.edu	37	chr3	183547482	183547482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaaatcagttcatgaccGtaagtaacataccatctgga	6	10	3	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:183547482G>A	ENST00000317096.4	-	10	1104	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	348					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	p.Y348Y(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTCATGACCGTAAGTAACAT	0.423													False	0	True	3:183547482	0	A	183547482	G	A	183547482	2	1	57	1	0	0	0	0	0	0	0	1	11519	1140	40	1		1	PARL	3	183547482	Silent	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	13996699	183547482	14474948	18	4510											
UGT2B17	7367	broad.mit.edu	37	chr4	69416515	69416515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgttatcatgttgatccGcaaacaagggaatgcccacc	8	11	1	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr4:69416515G>A	ENST00000317746.2	-	5	1235	c.1193C>T	c.(1192-1194)gCg>gTg	p.A398V		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	398					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ATGTTGATCCGCAAACAAGGG	0.463													False	0	False	4:69416515	0	A	69416515	G	A	69416515	3	1	57	1	0	0	0	0	1	0	0	0	17043	1087	38	1	407	1	UGT2B17	4	69416515	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		69416515	121737761	19	4511											
C4orf17	84103	broad.mit.edu	37	chr4	100460359	100460359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgattcattctgagcttgCcgagataaacctgttaactc	7	9	2	3			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr4:100460359C>T	ENST00000514652.1	+	7	1022	c.668C>T	c.(667-669)gCc>gTc	p.A223V	C4orf17_ENST00000326581.4_Missense_Mutation_p.A223V			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	223								p.A223V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TCTGAGCTTGCCGAGATAAAC	0.433													False	0	False	4:100460359	0	T	100460359	C	T	100460359	3	4	57	1	0	0	0	0	1	0	0	0	2269	739	26	2	690	2	C4orf17	4	100460359	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	31043844	100460359	90693917	20	4512											
SORBS2	8470	broad.mit.edu	37	chr4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggatgctgttgtccgGcaagctcccccttttctttt	10	12	1	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr4:186544317G>A	ENST00000431808.1	-	14	2817	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000437304.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522													False	0	False	4:186544317	0	A	186544317	G	A	186544317	3	1	57	1	0	0	0	0	1	0	0	0	15008	1203	42	2	1084	2	SORBS2	4	186544317	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	86083958	186544317	4609959	21	4513											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	57	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-HV-AA8V-01A-11D-A40W-08		78610444	102304816	22	4514											
CMYA5	202333	broad.mit.edu	37	chr5	79084856	79084856	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacccaatgataactactTtttctatgtgagggccatca	6	11	2	2	rs146960317	by1000genomes	TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr5:79084856T>G	ENST00000446378.2	+	10	11649	c.11618T>G	c.(11617-11619)tTt>tGt	p.F3873C	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3873	Fibronectin type-III 2.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATAACTACTTTTTCTATGTG	0.393													False	0	True	5:79084856	0	G	79084856	T	G	79084856	3	3	57	1	0	0	0	0	1	0	0	0	3613	1841	64	4	11656	4	CMYA5	5	79084856	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08	474412	79084856	101830404	23	4515											
PCDHGA5	0	broad.mit.edu	37	chr5	140744450	140744450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctggatgtggtaagcGgaactgatggacaaaagtat	12	6	2	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr5:140744450G>A	ENST00000518069.1	+	1	553	c.553G>A	c.(553-555)Gga>Aga	p.G185R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGTAAGCGGAACTGATGG	0.552													False	0	False	5:140744450	0	A	140744450	G	A	140744450	3	1	57	1	0	0	0	0	1	0	0	0	11625	1117	39	1	555	1	PCDHGA5	5	140744450	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	61659594	140744450	40170810	24	4516											
BMP5	653	broad.mit.edu	37	chr6	55739380	55739380	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttactgagtactccgactctTcaggattttcttcattggtc	7	10	4	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr6:55739380T>A	ENST00000370830.3	-	1	982	c.284A>T	c.(283-285)gAa>gTa	p.E95V	BMP5_ENST00000446683.2_Missense_Mutation_p.E95V	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	95					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCCGACTCTTCAGGATTTTC	0.507													False	0	False	6:55739380	0	A	55739380	T	A	55739380	3	1	57	1	0	0	0	0	1	0	0	0	1468	1783	62	5	1108	5	BMP5	6	55739380	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08		55739380	115375687	25	4517											
NT5E	4907	broad.mit.edu	37	chr6	86197162	86197162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggctcctctcaatcatgCcgctttagagaatgcaacat	8	11	2	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr6:86197162C>T	ENST00000257770.3	+	5	1108	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NT5E_ENST00000369651.3_Silent_p.C353C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	353					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CTCAATCATGCCGCTTTAGAG	0.413													False	0	False	6:86197162	0	T	86197162	C	T	86197162	2	4	57	1	0	0	0	0	0	0	0	1	10761	747	26	2		2	NT5E	6	86197162	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	30457782	86197162	84917905	26	4518											
BEND3	57673	broad.mit.edu	37	chr6	107391539	107391539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacaggcactgcagccccGggagaagtccacgtcgctga	13	15	0	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr6:107391539G>A	ENST00000429433.2	-	5	1505	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	BEND3_ENST00000369042.1_Missense_Mutation_p.R286W	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	286	BEN 1.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CTGCAGCCCCGGGAGAAGTCC	0.637													False	0	True	6:107391539	0	A	107391539	G	A	107391539	3	1	57	1	0	0	0	0	1	0	0	0	1403	1115	39	1	1634	1	BEND3	6	107391539	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	21194377	107391539	63723528	27	4519											
RELN	5649	broad.mit.edu	37	chr7	103194237	103194237	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttgtttacattatttccatCgataatgaagtcatcaacaa	5	7	2	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr7:103194237C>A	ENST00000428762.1	-	39	5998	c.5839G>T	c.(5839-5841)Gat>Tat	p.D1947Y	RELN_ENST00000343529.5_Missense_Mutation_p.D1947Y|RELN_ENST00000424685.2_Missense_Mutation_p.D1947Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1947					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTATTTCCATCGATAATGAAG	0.358													False	0	False	7:103194237	0	A	103194237	C	A	103194237	3	1	57	1	0	0	0	0	1	0	0	0	13299	884	31	3	4651	3	RELN	7	103194237	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08		103194237	55944426	28	4520											
CALD1	800	broad.mit.edu	37	chr7	134613527	134613527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgcctaccagaggaatgacGatgatgaagaggaggcagcc	14	9	0	5			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr7:134613527G>A	ENST00000361388.2	+	4	560	c.94G>A	c.(94-96)Gat>Aat	p.D32N	CALD1_ENST00000361901.2_Missense_Mutation_p.D32N|CALD1_ENST00000495522.1_Missense_Mutation_p.D26N|CALD1_ENST00000424922.1_Missense_Mutation_p.D26N|CALD1_ENST00000422748.1_Missense_Mutation_p.D32N|CALD1_ENST00000543443.1_Missense_Mutation_p.D37N|CALD1_ENST00000361675.2_Missense_Mutation_p.D32N|CALD1_ENST00000417172.1_Missense_Mutation_p.D32N|CALD1_ENST00000393118.2_Missense_Mutation_p.D26N	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	252	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAGGAATGACGATGATGAAGA	0.587													False	0	False	7:134613527	0	A	134613527	G	A	134613527	3	1	57	1	0	0	0	0	1	0	0	0	2601	1058	37	1	157	1	CALD1	7	134613527	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	31419290	134613527	24525136	29	4521											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138394450	138394450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcaggacagcaaatacgGcaaaaataataaaaaccccg	7	10	1	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr7:138394450G>A	ENST00000310018.2	-	21	2630	c.2348C>T	c.(2347-2349)gCc>gTc	p.A783V	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A783V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A783V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	783					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCAAATACGGCAAAAATAAT	0.532													False	0	False	7:138394450	0	A	138394450	G	A	138394450	3	1	57	1	0	0	0	0	1	0	0	0	1174	1203	42	2	182	2	ATP6V0A4	7	138394450	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	3780923	138394450	20744213	30	4522											
CLDN23	137075	broad.mit.edu	37	chr8	8560232	8560232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgctgctggcaggacgaGcccaacttcgtgctggcagg	16	12	0	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:8560232G>A	ENST00000519106.1	+	1	785	c.324G>A	c.(322-324)gaG>gaA	p.E108E		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	108					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		GGCAGGACGAGCCCAACTTCG	0.697													False	0	True	8:8560232	0	A	8560232	G	A	8560232	2	1	57	1	0	0	0	0	0	0	0	1	3507	962	34	2		2	CLDN23	8	8560232	Silent	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		8560232	137803790	31	4523											
ENTPD4	9583	broad.mit.edu	37	chr8	23297388	23297388	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagtttggtgaacatcacatCccaagttaaattcagctaac	6	10	2	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:23297388C>A	ENST00000358689.4	-	9	1158	c.923G>T	c.(922-924)gGa>gTa	p.G308V	ENTPD4_ENST00000417069.2_Missense_Mutation_p.G300V|ENTPD4_ENST00000356206.6_Missense_Mutation_p.G300V	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	308					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AACATCACATCCCAAGTTAAA	0.403													False	0	True	8:23297388	0	A	23297388	C	A	23297388	3	1	57	1	0	0	0	0	1	0	0	0	5173	855	30	3	947	3	ENTPD4	8	23297388	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	14737156	23297388	123066634	32	4524											
ADAM7	8756	broad.mit.edu	37	chr8	24324330	24324330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggattcttcagaataaaCgaccaaagatacctcattga	8	8	3	3	rs143068519	byFrequency	TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:24324330C>T	ENST00000175238.6	+	6	491	c.408C>T	c.(406-408)aaC>aaT	p.N136N	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.N136N|ADAM7_ENST00000441335.2_Silent_p.N136N|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	136					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TCAGAATAAACGACCAAAGAT	0.373													False	0	True	8:24324330	0	T	24324330	C	T	24324330	2	4	57	1	0	0	0	0	0	0	0	1	251	535	19	1		1	ADAM7	8	24324330	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	1026942	24324330	122039692	33	4525											
GPR124	25960	broad.mit.edu	37	chr8	37693106	37693106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctccatccagctgccccCgagtctattctcatcccttc	6	19	2	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:37693106C>T	ENST00000412232.2	+	13	1881	c.1868C>T	c.(1867-1869)cCg>cTg	p.P623L	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	623					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CAGCTGCCCCCGAGTCTATTC	0.647													False	0	True	8:37693106	0	T	37693106	C	T	37693106	3	4	57	1	0	0	0	0	1	0	0	0	6684	652	23	1	1897	1	GPR124	8	37693106	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	13368776	37693106	108670916	34	4526											
CLVS1	157807	broad.mit.edu	37	chr8	62212502	62212502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagactatagagaaagctcGcctggaactgaatgaaaacc	10	8	0	4			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:62212502G>A	ENST00000519846.1	+	3	588	c.116G>A	c.(115-117)cGc>cAc	p.R39H	CLVS1_ENST00000325897.4_Missense_Mutation_p.R39H|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	39					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGAAAGCTCGCCTGGAACTG	0.433													False	0	False	8:62212502	0	A	62212502	G	A	62212502	3	1	57	1	0	0	0	0	1	0	0	0	3594	1087	38	1	118	1	CLVS1	8	62212502	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	24519396	62212502	84151520	35	4527											
FAM84B	157638	broad.mit.edu	37	chr8	127569401	127569401	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggagcattccacctcgtgCagccgcggatcgtagggctg	14	13	0	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:127569401C>A	ENST00000304916.3	-	2	689	c.234G>T	c.(232-234)ctG>ctT	p.L78L	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	78						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			CCACCTCGTGCAGCCGCGGAT	0.716													False	0	False	8:127569401	0	A	127569401	C	A	127569401	2	1	57	1	0	0	0	0	0	0	0	1	5682	697	25	3		3	FAM84B	8	127569401	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	65356899	127569401	18794621	36	4528											
BAI1	575	broad.mit.edu	37	chr8	143603456	143603456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaccgcctcatccgcaagcGcttcctctgcctgggctggg	12	16	2	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:143603456G>A	ENST00000517894.1	+	21	4049	c.3155G>A	c.(3154-3156)cGc>cAc	p.R1052H	BAI1_ENST00000323289.5_Missense_Mutation_p.R1052H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1052					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ATCCGCAAGCGCTTCCTCTGC	0.657													False	0	False	8:143603456	0	A	143603456	G	A	143603456	3	1	57	1	0	0	0	0	1	0	0	0	1302	1087	38	1	3233	1	BAI1	8	143603456	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	16034055	143603456	2760566	37	4529											
FBXL6	26233	broad.mit.edu	37	chr8	145580129	145580129	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctaggctagggaagcctggTccgggagccacccctcgtcc	13	15	1	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:145580129T>A	ENST00000331890.5	-	7	1120	c.1056A>T	c.(1054-1056)ggA>ggT	p.G352G	FBXL6_ENST00000455319.2_Silent_p.G346G|FBXL6_ENST00000526524.1_5'UTR	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	352					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GGAAGCCTGGTCCGGGAGCCA	0.652													False	0	False	8:145580129	0	A	145580129	T	A	145580129	2	1	57	1	0	0	0	0	0	0	0	1	5763	1654	58	5		5	FBXL6	8	145580129	Silent	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08	1976673	145580129	783893	38	4530											
ALDH1A1	216	broad.mit.edu	37	chr9	75531895	75531895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatatacttcttagcccGctcaacactccttcgaacaa	5	13	2	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr9:75531895G>A	ENST00000297785.3	-	9	1030	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	ALDH1A1_ENST00000376939.1_3'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	326					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTCTTAGCCCGCTCAACACTC	0.458													False	0	True	9:75531895	0	A	75531895	G	A	75531895	3	1	57	1	0	0	0	0	1	0	0	0	490	1086	38	1	549	1	ALDH1A1	9	75531895	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		75531895	65681536	39	4531											
FOXB2	442425	broad.mit.edu	37	chr9	79635329	79635329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgggctgggctcggccgcCgccgctgccgccgcggccgc	17	19	0	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr9:79635329C>T	ENST00000376708.1	+	1	759	c.759C>T	c.(757-759)gcC>gcT	p.A253A		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	253	Poly-Ala.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						GCTCGgccgccgccgctgccg	0.746													False	0	True	9:79635329	0	T	79635329	C	T	79635329	2	4	57	1	0	0	0	0	0	0	0	1	6033	639	23	1		1	FOXB2	9	79635329	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	4103434	79635329	61578102	40	4532											
IPO7	10527	broad.mit.edu	37	chr11	9459508	9459508	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacagtggcttaatgatgttGactgtttcttggggtaagtg	13	5	1	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:9459508G>A	ENST00000379719.3	+	21	2618	c.2476G>A	c.(2476-2478)Gac>Aac	p.D826N		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	826					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TAATGATGTTGACTGTTTCTT	0.313													False	0	False	11:9459508	0	A	9459508	G	A	9459508	3	1	57	1	0	0	0	0	1	0	0	0	7847	1290	45	2	2558	2	IPO7	11	9459508	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		9459508	125547008	41	4533											
AMPD3	272	broad.mit.edu	37	chr11	10503680	10503680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgatccgggagaagtatgCgcggctcgcctaccaccgct	12	13	0	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:10503680C>T	ENST00000444303.2	+	3	492	c.20C>T	c.(19-21)gCg>gTg	p.A7V	AMPD3_ENST00000396554.3_Missense_Mutation_p.A175V	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	166					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GAGAAGTATGCGCGGCTCGCC	0.607													False	0	False	11:10503680	0	T	10503680	C	T	10503680	3	4	57	1	0	0	0	0	1	0	0	0	587	768	27	1	558	1	AMPD3	11	10503680	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	1044172	10503680	124502836	42	4534											
DEPDC7	91614	broad.mit.edu	37	chr11	33050274	33050274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcaacctaagaggcagTccaccatggtcaacagcagt	8	13	2	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:33050274T>C	ENST00000311388.3	+	4	1067	c.691T>C	c.(691-693)Tcc>Ccc	p.S231P	DEPDC7_ENST00000241051.3_Missense_Mutation_p.S240P	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	240					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TAAGAGGCAGTCCACCATGGT	0.413													False	0	False	11:33050274	0	C	33050274	T	C	33050274	3	2	57	1	0	0	0	0	1	0	0	0	4474	1667	58	4	782	4	DEPDC7	11	33050274	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08	22546594	33050274	101956242	43	4535											
CADM1	23705	broad.mit.edu	37	chr11	115047275	115047275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgtctgcgtctgctgcGtcatcggctcctttggcttc	12	13	3	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:115047275G>A	ENST00000452722.3	-	10	1268	c.1248C>T	c.(1246-1248)gaC>gaT	p.D416D	CADM1_ENST00000542447.2_Silent_p.D388D|CADM1_ENST00000537058.1_Silent_p.D427D|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Silent_p.D417D|CADM1_ENST00000331581.6_Silent_p.D445D	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1						adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.D416D(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CGTCTGCTGCGTCATCGGCTC	0.453													False	0	False	11:115047275	0	A	115047275	G	A	115047275	2	1	57	1	0	0	0	0	0	0	0	1	2586	1136	40	1		1	CADM1	11	115047275	Silent	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08	81997001	115047275	19959241	44	4536											
ACRBP	84519	broad.mit.edu	37	chr12	6747481	6747483	+	In_Frame_Del	DEL	CTC	CTC	-													cctagagtcaaggtgctgaaCtcctggctccatcgaagcac							TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr12:6747481_6747483delCTC	ENST00000229243.2	-	10	1690_1692	c.1597_1599delGAG	c.(1597-1599)gagdel	p.E533del	ACRBP_ENST00000414226.2_In_Frame_Del_p.E500del	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	533						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGGTGCTGAACTCCTGGCTCCAT	0.542													False	1	False	12:6747481	0	-	6747483	CTC	-	6747481	7	5	57	1	0	1	0	1	0	0	0	0	170	564	20	0	36	0	ACRBP	12	6747481	In_Frame_Del	DEL	CTC	TCGA-HV-AA8V-01A-11D-A40W-08		6747481	127104414	45	4537											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	57	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	18650803	25398284	108453611	46	4538											
LRRIQ1	84125	broad.mit.edu	37	chr12	85449402	85449402	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caacaagaaaaagaaaaaaaTtctttgttaaaacagcagaa	5	5	1	3			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr12:85449402T>A	ENST00000393217.2	+	8	892	c.831T>A	c.(829-831)aaT>aaA	p.N277K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	277	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGAAAAAAATTCTTTGTTAA	0.279													False	0	True	12:85449402	0	A	85449402	T	A	85449402	3	1	57	1	0	0	0	0	1	0	0	0	9091	1490	52	5	857	5	LRRIQ1	12	85449402	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08	60051118	85449402	48402493	47	4539											
ACSBG1	23205	broad.mit.edu	37	chr15	78500376	78500376	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgggcattattcaccttcTctggcactgagagctcgaga	10	11	2	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr15:78500376T>A	ENST00000258873.4	-	2	405	c.200A>T	c.(199-201)gAg>gTg	p.E67V	ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	67					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ATTCACCTTCTCTGGCACTGA	0.597													False	0	False	15:78500376	0	A	78500376	T	A	78500376	3	1	57	1	0	0	0	0	1	0	0	0	173	1551	54	5	2026	5	ACSBG1	15	78500376	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08		78500376	24031016	48	4540											
TP53	7157	broad.mit.edu	37	chr17	7578478	7578478	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcgggtgccgggcgggGgtgtggaatcaacccacagc	19	11	1	0	rs137852790		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr17:7578478G>C	ENST00000420246.2	-	5	584	c.452C>G	c.(451-453)cCc>cGc	p.P151R	TP53_ENST00000413465.2_Missense_Mutation_p.P151R|TP53_ENST00000359597.4_Missense_Mutation_p.P151R|TP53_ENST00000445888.2_Missense_Mutation_p.P151R|TP53_ENST00000269305.4_Missense_Mutation_p.P151R|TP53_ENST00000455263.2_Missense_Mutation_p.P151R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGGGCGGGGGTGTGGAATC	0.607		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)			False	0	True	17:7578478	0	C	7578478	G	C	7578478	3	2	57	1	0	0	0	0	1	0	0	0	16464	1232	43	5	846	5	TP53	17	7578478	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		7578478	73616732	49	4541											
NPC1	4864	broad.mit.edu	37	chr18	21121386	21121386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgcacggctggcatcaCggacaatgctcctgtcgggg	16	11	1	0	rs146874573		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr18:21121386C>T	ENST00000269228.5	-	15	2811	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.V435M	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	753	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCTGGCATCACGGACAATGCT	0.512													False	0	False	18:21121386	0	T	21121386	C	T	21121386	3	4	57	1	0	0	0	0	1	0	0	0	10638	536	19	1	1623	1	NPC1	18	21121386	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08		21121386	56955862	50	4542											
SMAD4	4089	broad.mit.edu	37	chr18	48575159	48575159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttaaatattgtcagtatgCgtttgacttaaaatgtgata	8	3	1	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr18:48575159C>T	ENST00000342988.3	+	3	891	c.353C>T	c.(352-354)gCg>gTg	p.A118V	SMAD4_ENST00000452201.2_Missense_Mutation_p.A118V|SMAD4_ENST00000398417.2_Missense_Mutation_p.A118V|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.A118V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	118	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)|p.A118V(2)|p.A118E(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTCAGTATGCGTTTGACTTA	0.398													False	0	False	18:48575159	0	T	48575159	C	T	48575159	3	4	57	1	0	0	0	0	1	0	0	0	14840	768	27	1	359	1	SMAD4	18	48575159	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	27453773	48575159	29502089	51	4543											
KHSRP	8570	broad.mit.edu	37	chr19	6417818	6417818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatctctccactccggccaAtgaccacgccaacagaatgc	6	17	2	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr19:6417818A>G	ENST00000398148.3	-	11	1105	c.1013T>C	c.(1012-1014)aTt>aCt	p.I338T		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	338	Gly-rich.|KH 3.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						ACTCCGGCCAATGACCACGCC	0.642											OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:6417818	0	G	6417818	A	G	6417818	3	3	57	1	0	0	0	0	1	0	0	0	8201	101	4	4	1162	4	KHSRP	19	6417818	Missense_Mutation	SNP	A	TCGA-HV-AA8V-01A-11D-A40W-08		6417818	52711165	52	4544											
NPEPL1	79716	broad.mit.edu	37	chr20	57268896	57268896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccctgcagggtgagccGgcacaacagcccctcggccg	13	18	0	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr20:57268896G>A	ENST00000356091.6	+	2	542	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.R57Q|NPEPL1_ENST00000525817.1_Missense_Mutation_p.R37Q	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	85					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			AGGGTGAGCCGGCACAACAGC	0.682													False	0	False	20:57268896	0	A	57268896	G	A	57268896	3	1	57	1	0	0	0	0	1	0	0	0	10642	1116	39	1	106	1	NPEPL1	20	57268896	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		57268896	5756624	53	4545											
GNAS	2778	broad.mit.edu	37	chr20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggacctgcttcgctgcCgtgtcctgacttctggaatc	10	13	2	1	rs11554273		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr20:57484420C>T	ENST00000371100.4	+	8	3082	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			False	0	False	20:57484420	0	T	57484420	C	T	57484420	3	4	57	1	0	0	0	0	1	0	0	0	6555	652	23	1	3448	1	GNAS	20	57484420	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	215524	57484420	5541100	54	4546											
NDUFV3	4731	broad.mit.edu	37	chr21	44317096	44317096	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctacggtttctttgtctgcGgaatcagggaagagtgaaaa	12	6	4	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr21:44317096G>T	ENST00000340344.4	+	2	174	c.108G>T	c.(106-108)gcG>gcT	p.A36A	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Silent_p.A36A	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	CTTTGTCTGCGGAATCAGGGA	0.418													False	0	False	21:44317096	0	T	44317096	G	T	44317096	2	4	57	1	0	0	0	0	0	0	0	1	10369	1103	39	3		3	NDUFV3	21	44317096	Silent	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		44317096	3812799	55	4547											
CECR1	51816	broad.mit.edu	37	chr22	17662742	17662742	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggccagctgtttgagggtCctcaggtcagccttcatccc	11	13	3	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr22:17662742C>T	ENST00000399839.1	-	9	1680	c.1410G>A	c.(1408-1410)agG>agA	p.R470R	CECR1_ENST00000399837.2_Silent_p.R470R|CECR1_ENST00000262607.3_Silent_p.R470R|CECR1_ENST00000449907.2_Silent_p.R428R|CECR1_ENST00000330232.4_Silent_p.R229R	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	470					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GTTTGAGGGTCCTCAGGTCAG	0.547													False	0	False	22:17662742	0	T	17662742	C	T	17662742	2	4	57	1	0	0	0	0	0	0	0	1	3228	854	30	2		2	CECR1	22	17662742	Silent	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08		17662742	33641824	56	4548											
MED15	51586	broad.mit.edu	37	chr22	20939239	20939239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacatccgctcacctgtctTcaaccattccctgtaccgca	4	18	3	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr22:20939239T>C	ENST00000263205.7	+	15	1970	c.1901T>C	c.(1900-1902)tTc>tCc	p.F634S	MED15_ENST00000292733.7_Missense_Mutation_p.F594S|MED15_ENST00000406969.1_Missense_Mutation_p.F568S|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.F523S|MED15_ENST00000541476.1_Missense_Mutation_p.F568S|MED15_ENST00000425759.2_Missense_Mutation_p.F483S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	634					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TCACCTGTCTTCAACCATTCC	0.647													False	0	False	22:20939239	0	C	20939239	T	C	20939239	3	2	57	1	0	0	0	0	1	0	0	0	9500	1783	62	4	1959	4	MED15	22	20939239	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08	3276497	20939239	30365327	57	4549											
MYH9	4627	broad.mit.edu	37	chr22	36685180	36685180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggtcctccatctccgtgCggaactgcttgttgagccgc	11	13	1	1			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr22:36685180C>T	ENST00000216181.5	-	32	4738	c.4508G>A	c.(4507-4509)cGc>cAc	p.R1503H		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1503					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CATCTCCGTGCGGAACTGCTT	0.637			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				False	0	False	22:36685180	0	T	36685180	C	T	36685180	3	4	57	1	0	0	0	0	1	0	0	0	10109	768	27	1	1414	1	MYH9	22	36685180	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	15745941	36685180	14619386	58	4550											
MAGEB10	139422	broad.mit.edu	37	chrX	27839749	27839749	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgatagctttcccagagGccctgtagatgagaaagtaa	10	9	0	4			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:27839749G>T	ENST00000356790.2	+	3	571	c.326G>T	c.(325-327)gGc>gTc	p.G109V		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	109										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TTTCCCAGAGGCCCTGTAGAT	0.433													False	0	True	X:27839749	0	T	27839749	G	T	27839749	3	4	57	1	0	0	0	0	1	0	0	0	9240	1203	42	3	328	3	MAGEB10	23	27839749	Missense_Mutation	SNP	G	TCGA-HV-AA8V-01A-11D-A40W-08		27839749	127430811	59	4551											
MORF4L2	9643	broad.mit.edu	37	chrX	102931572	102931572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaagccatggttttaaTtcttcaggaatcttcacttt	5	9	5	0			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:102931572T>A	ENST00000423833.2	-	3	1609	c.384A>T	c.(382-384)gaA>gaT	p.E128D	MORF4L2_ENST00000441076.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000433176.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000422154.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000451301.1_Missense_Mutation_p.E128D|MORF4L2_ENST00000360458.1_Missense_Mutation_p.E128D			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	128					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						ATGGTTTTAATTCTTCAGGAA	0.478													False	0	False	X:102931572	0	A	102931572	T	A	102931572	3	1	57	1	0	0	0	0	1	0	0	0	9774	1490	52	5	486	5	MORF4L2	23	102931572	Missense_Mutation	SNP	T	TCGA-HV-AA8V-01A-11D-A40W-08	75091823	102931572	52338988	60	4552											
PNMA5	114824	broad.mit.edu	37	chrX	152159280	152159280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctaagagatgtttcagaCgaatcatgtctgtgctgcgc	12	8	3	2			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:152159280C>T	ENST00000439251.1	-	2	1301	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCAGACGAATCATGTC	0.562													False	0	False	X:152159280	0	T	152159280	C	T	152159280	3	4	57	1	0	0	0	0	1	0	0	0	12225	536	19	1	487	1	PNMA5	23	152159280	Missense_Mutation	SNP	C	TCGA-HV-AA8V-01A-11D-A40W-08	49227708	152159280	3111280	61	4553											
PER3	8863	broad.mit.edu	37	chr1	7887612	7887612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtcgccatcgtttttgCcatgtccattcctgggggcg	12	11	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:7887612C>T	ENST00000377532.3	+	17	2847	c.2623C>T	c.(2623-2625)Cca>Tca	p.P875S	PER3_ENST00000361923.2_Missense_Mutation_p.P867S			P56645	PER3_HUMAN	period circadian clock 3	867	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGTTTTTGCCATGTCCATT	0.537													False	0	False	1:7887612	0	T	7887612	C	T	7887612	3	4	58	1	0	0	0	0	1	0	0	0	11799	739	26	2	2665	2	PER3	1	7887612	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		7887612	241363009	1	4554											
RERE	473	broad.mit.edu	37	chr1	8418382	8418382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtcagcgatgccatgcGctctgcgtggatacgctcgg	15	12	2	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:8418382G>A	ENST00000337907.3	-	21	4847	c.4213C>T	c.(4213-4215)Cgc>Tgc	p.R1405C	RERE_ENST00000377464.1_Missense_Mutation_p.R1137C|RERE_ENST00000476556.1_Missense_Mutation_p.R851C|RERE_ENST00000400908.2_Missense_Mutation_p.R1405C|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1405					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GATGCCATGCGCTCTGCGTGG	0.642													False	0	False	1:8418382	0	A	8418382	G	A	8418382	3	1	58	1	0	0	0	0	1	0	0	0	13310	1087	38	1	503	1	RERE	1	8418382	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	530770	8418382	240832239	2	4555											
RAD54L	8438	broad.mit.edu	37	chr1	46726266	46726266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctattctcagtaaggttttgCggcctcatcagagagaggta	11	8	3	2	rs149141765		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:46726266C>T	ENST00000371975.4	+	6	1134	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	RAD54L_ENST00000442598.1_Missense_Mutation_p.R154W	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	154					meiosis	nucleus	ATP binding|DNA binding|helicase activity	p.R154W(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TAAGGTTTTGCGGCCTCATCA	0.537								Direct reversal of damage;Homologous recombination					False	0	False	1:46726266	0	T	46726266	C	T	46726266	3	4	58	1	0	0	0	0	1	0	0	0	13072	759	27	1	482	1	RAD54L	1	46726266	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	38307884	46726266	202524355	3	4556											
NBPF16	728936	broad.mit.edu	37	chr1	148753330	148753330	+	Frame_Shift_Del	DEL	T	T	-													tgttattcgactccttcagaTtatcttgaactgcctgactt							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:148753330delT	ENST00000417839.1	+	12	1537	c.1347delT	c.(1345-1347)gatfs	p.D449fs		NM_001102663.1	NP_001096133.1			neuroblastoma breakpoint family, member 16											breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CTCCTTCAGATTATCTTGAAC	0.493													False	2	False	1:148753330	0	-	148753330	T	-	148753330	7	5	58	1	0	1	0	1	0	0	0	0	10264	1490	52	0	3462	0	NBPF16	1	148753330	Frame_Shift_Del	DEL	T	TCGA-HV-AA8X-01A-11D-A397-08	102027064	148753330	100497291	4	4557											
RPRD2	23248	broad.mit.edu	37	chr1	150443776	150443776	+	Frame_Shift_Del	DEL	T	T	-													tacccccgagagctctccaaTtctgtatctacatatcgacc							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:150443776delT	ENST00000401000.4	+	10	2339	c.2274delT	c.(2272-2274)aatfs	p.N758fs	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Frame_Shift_Del_p.N758fs|RPRD2_ENST00000369068.4_Frame_Shift_Del_p.N784fs			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	784	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCTCTCCAATTCTGTATCTA	0.507													False	2	False	1:150443776	0	-	150443776	T	-	150443776	7	5	58	1	0	1	0	1	0	0	0	0	13696	1490	52	0	2394	0	RPRD2	1	150443776	Frame_Shift_Del	DEL	T	TCGA-HV-AA8X-01A-11D-A397-08	1690446	150443776	98806845	5	4558											
CR1	1378	broad.mit.edu	37	chr1	207749012	207749012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccattggagcacgaagccGccaatttgtcaacgtgagtt	11	11	1	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:207749012G>A	ENST00000367049.4	+	28	4524	c.4524G>A	c.(4522-4524)ccG>ccA	p.P1508P	CR1_ENST00000367051.1_Silent_p.P1058P|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Silent_p.P1058P|CR1_ENST00000367053.1_Silent_p.P1058P|CR1_ENST00000400960.2_Silent_p.P1058P|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1058	Sushi 23.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCACGAAGCCGCCAATTTGTC	0.448													False	0	False	1:207749012	0	A	207749012	G	A	207749012	2	1	58	1	0	0	0	0	0	0	0	1	3863	1074	38	1		1	CR1	1	207749012	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	57305236	207749012	41501609	6	4559											
TMEM63A	9725	broad.mit.edu	37	chr1	226037743	226037743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagacgaagtagaggttgtgCcggtccaccatgtgcttgag	14	8	0	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	647						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGAGGTTGTGCCGGTCCACCA	0.602													False	0	False	1:226037743	0	T	226037743	C	T	226037743	2	4	58	1	0	0	0	0	0	0	0	1	16272	726	26	2		2	TMEM63A	1	226037743	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	18288731	226037743	23212878	7	4560											
C1orf101	257044	broad.mit.edu	37	chr1	244724041	244724041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggatccattcttcttaaGtttgccagattagtaactac	6	10	2	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:244724041G>A	ENST00000366534.4	+	10	1155	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Silent_p.K216K|C1orf101_ENST00000366533.4_Silent_p.K367K	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	367						integral to membrane		p.K367N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTCTTCTTAAGTTTGCCAGAT	0.408													False	0	True	1:244724041	0	A	244724041	G	A	244724041	2	1	58	1	0	0	0	0	0	0	0	1	1991	1020	36	2		2	C1orf101	1	244724041	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	18686298	244724041	4526580	8	4561											
SOX11	6664	broad.mit.edu	37	chr2	5833606	5833606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggacgaggaaccaccGcaccagcagctcctgcagcc	13	15	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:5833606G>A	ENST00000322002.3	+	1	808	c.753G>A	c.(751-753)ccG>ccA	p.P251P		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	251					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGGAACCACCGCACCAGCAGC	0.657													False	0	False	2:5833606	0	A	5833606	G	A	5833606	2	1	58	1	0	0	0	0	0	0	0	1	15022	1074	38	1		1	SOX11	2	5833606	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08		5833606	237365767	9	4562											
C2orf71	388939	broad.mit.edu	37	chr2	29296840	29296840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgggatgaagaggttttGgttcctgggatcagtccttc	14	7	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:29296840G>A	ENST00000331664.5	-	1	287	c.288C>T	c.(286-288)acC>acT	p.T96T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	96					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AAGAGGTTTTGGTTCCTGGGA	0.483													False	0	True	2:29296840	0	A	29296840	G	A	29296840	2	1	58	1	0	0	0	0	0	0	0	1	2207	1335	47	2		2	C2orf71	2	29296840	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	23463234	29296840	213902533	10	4563											
VWA3B	200403	broad.mit.edu	37	chr2	98928694	98928694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttccccgcggccgggcGtctaggactcagcagccacg	12	18	2	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:98928694G>A	ENST00000477737.1	+	28	3971	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1256										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCGGCCGGGCGTCTAGGACTC	0.607													False	0	False	2:98928694	0	A	98928694	G	A	98928694	3	1	58	1	0	0	0	0	1	0	0	0	17325	1145	40	1	3873	1	VWA3B	2	98928694	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	69631854	98928694	144270679	11	4564											
DPP10	57628	broad.mit.edu	37	chr2	116066832	116066832	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggaactgggaagtaacagCcctccacagagaaactggaa	11	9	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:116066832C>A	ENST00000410059.1	+	2	558	c.78C>A	c.(76-78)agC>agA	p.S26R	DPP10_ENST00000310323.8_Missense_Mutation_p.S19R|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30R	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	26	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAAGTAACAGCCCTCCACAGA	0.403													False	0	True	2:116066832	0	A	116066832	C	A	116066832	3	1	58	1	0	0	0	0	1	0	0	0	4757	738	26	3	255	3	DPP10	2	116066832	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	17138138	116066832	127132541	12	4565											
NEB	4703	broad.mit.edu	37	chr2	152420121	152420121	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtggacatttacttaccGcactcctcatcttttggaaa	6	10	2	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:152420121G>A	ENST00000397345.3	-	119	18894	c.18692C>T	c.(18691-18693)gCg>gTg	p.A6231V	NEB_ENST00000172853.10_Splice_Site_p.A4530V|NEB_ENST00000603639.1_Splice_Site_p.A6231V|NEB_ENST00000427231.2_Splice_Site_p.A6231V|NEB_ENST00000604864.1_Splice_Site_p.A6231V|NEB_ENST00000409198.1_Splice_Site_p.A4530V	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	6213					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.A4530E(1)|p.A6231E(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTACTTACCGCACTCCTCAT	0.473													False	0	False	2:152420121	0	A	152420121	G	A	152420121	5	1	58	1	0	0	0	0	0	0	1	0	10370	1101	38	1	7250	1	NEB	2	152420121	Splice_Site	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	36353289	152420121	90779252	13	4566											
TTN	7273	broad.mit.edu	37	chr2	179438185	179438185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacttcagggtttttgggcGgatcagggggtccataagga	15	7	3	0	rs55992239		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:179438185G>A	ENST00000589042.1	-	326	72898	c.72674C>T	c.(72673-72675)cCg>cTg	p.P24225L	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21657L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15160L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15352L|TTN_ENST00000591111.1_Missense_Mutation_p.P22584L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15285L|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22584	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTTGGGCGGATCAGGGGG	0.438													False	0	False	2:179438185	0	A	179438185	G	A	179438185	3	1	58	1	0	0	0	0	1	0	0	0	16819	1116	39	1	35453	1	TTN	2	179438185	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	27018064	179438185	63761188	14	4567											
TTN	7273	broad.mit.edu	37	chr2	179635138	179635138	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtttctaaatcaacttaCtctccacgtgcagtctggca	7	11	4	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:179635138C>T	ENST00000589042.1	-	35	8605		c.e35+1		TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000360870.5_Splice_Site|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000359218.5_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCAACTTACTCTCCACGTG	0.433													False	0	False	2:179635138	0	T	179635138	C	T	179635138	5	4	58	1	0	0	0	0	0	0	1	0	16819	579	20	2	102919	2	TTN	2	179635138	Splice_Site	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	196953	179635138	63564235	15	4568											
FN1	2335	broad.mit.edu	37	chr2	216274779	216274779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcttcaggcctttgatgGtgtaggagtttaagtggcct	14	7	1	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:216274779G>A	ENST00000354785.4	-	14	2369	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I	FN1_ENST00000345488.5_Missense_Mutation_p.T667I|FN1_ENST00000421182.1_Missense_Mutation_p.T667I|FN1_ENST00000356005.4_Missense_Mutation_p.T667I|FN1_ENST00000432072.2_Missense_Mutation_p.T667I|FN1_ENST00000443816.1_Missense_Mutation_p.T667I|FN1_ENST00000446046.1_Missense_Mutation_p.T667I|FN1_ENST00000323926.6_Missense_Mutation_p.T667I|FN1_ENST00000357867.4_Missense_Mutation_p.T667I|FN1_ENST00000336916.4_Missense_Mutation_p.T667I|FN1_ENST00000359671.1_Missense_Mutation_p.T667I|FN1_ENST00000346544.3_Missense_Mutation_p.T667I|FN1_ENST00000357009.2_Missense_Mutation_p.T667I			P02751	FINC_HUMAN	fibronectin 1	667	Fibronectin type-III 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTTTGATGGTGTAGGAGTT	0.488													False	0	False	2:216274779	0	A	216274779	G	A	216274779	3	1	58	1	0	0	0	0	1	0	0	0	6002	1261	44	2	5565	2	FN1	2	216274779	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	36639641	216274779	26924594	16	4569											
CAND2	23066	broad.mit.edu	37	chr3	12856671	12856671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtacagcgatgacgatgaCatgagctggaaggtgcgccg	16	8	0	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:12856671C>T	ENST00000456430.2	+	8	1079	c.1038C>T	c.(1036-1038)gaC>gaT	p.D346D	CAND2_ENST00000295989.5_Silent_p.D253D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	346	Poly-Asp.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATGACGATGACATGAGCTGGA	0.617													False	0	False	3:12856671	0	T	12856671	C	T	12856671	2	4	58	1	0	0	0	0	0	0	0	1	2636	477	17	2		2	CAND2	3	12856671	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		12856671	185165759	17	4570											
NEK10	152110	broad.mit.edu	37	chr3	27385769	27385769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggaacaatcttacctgcttAtgagtctatttttcaccaag	6	9	3	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:27385769A>T	ENST00000429845.2	-	6	718	c.356T>A	c.(355-357)aTa>aAa	p.I119K	NEK10_ENST00000341435.5_Missense_Mutation_p.I119K			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	119							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTACCTGCTTATGAGTCTATT	0.368													False	0	False	3:27385769	0	T	27385769	A	T	27385769	3	4	58	1	0	0	0	0	1	0	0	0	10390	449	16	5	1862	5	NEK10	3	27385769	Missense_Mutation	SNP	A	TCGA-HV-AA8X-01A-11D-A397-08	14529098	27385769	170636661	18	4571											
STAB1	23166	broad.mit.edu	37	chr3	52554552	52554552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaccactttgagacccGgcccctgcgactggtgaggg	14	13	0	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:52554552G>A	ENST00000321725.6	+	53	5712	c.5636G>A	c.(5635-5637)cGg>cAg	p.R1879Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1879					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTTGAGACCCGGCCCCTGCGA	0.652													False	0	True	3:52554552	0	A	52554552	G	A	52554552	3	1	58	1	0	0	0	0	1	0	0	0	15319	1116	39	1	5846	1	STAB1	3	52554552	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	25168783	52554552	145467878	19	4572											
HPS3	84343	broad.mit.edu	37	chr3	148875180	148875180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtcaaaacccagagctGcattcaccttctcagtgagg	9	12	3	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:148875180G>A	ENST00000296051.2	+	9	1693	c.1553G>A	c.(1552-1554)tGc>tAc	p.C518Y	HPS3_ENST00000460120.1_Missense_Mutation_p.C353Y	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	518						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACCCAGAGCTGCATTCACCTT	0.448									Hermansky-Pudlak syndrome				False	0	False	3:148875180	0	A	148875180	G	A	148875180	3	1	58	1	0	0	0	0	1	0	0	0	7387	1319	46	2	1587	2	HPS3	3	148875180	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	96320628	148875180	49147250	20	4573											
GPR171	29909	broad.mit.edu	37	chr3	150916417	150916417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgagcaatcagttatgaCttctgtctggctgagggtat	13	6	3	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:150916417C>T	ENST00000309180.5	-	3	987	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	253						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAGTTATGACTTCTGTCTGG	0.458													False	0	False	3:150916417	0	T	150916417	C	T	150916417	3	4	58	1	0	0	0	0	1	0	0	0	6714	565	20	2	206	2	GPR171	3	150916417	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	2041237	150916417	47106013	21	4574											
MAD2L1	4085	broad.mit.edu	37	chr4	120987848	120987848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacgatttcggcgctcccGcgcagggtgattccctgctc	12	16	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr4:120987848G>A	ENST00000296509.6	-	1	381	c.42C>T	c.(40-42)cgC>cgT	p.R14R		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)		HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CGGCGCTCCCGCGCAGGGTGA	0.632													False	0	True	4:120987848	0	A	120987848	G	A	120987848	2	1	58	1	0	0	0	0	0	0	0	1	9211	1074	38	1		1	MAD2L1	4	120987848	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08		120987848	70166428	22	4575											
ADAMTS16	170690	broad.mit.edu	37	chr5	5303758	5303758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaacccctcggccagagCgcagctgctgcccgacgctg	11	19	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:5303758C>T	ENST00000274181.7	+	20	3203	c.3065C>T	c.(3064-3066)gCg>gTg	p.A1022V		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1022	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCGGCCAGAGCGCAGCTGCTG	0.627													False	0	False	5:5303758	0	T	5303758	C	T	5303758	3	4	58	1	0	0	0	0	1	0	0	0	261	768	27	1	3143	1	ADAMTS16	5	5303758	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		5303758	175611502	23	4576											
CCNO	10309	broad.mit.edu	37	chr5	54527370	54527370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacgggccgcgagacccGcagcatgcggtccgccagcg	15	17	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:54527370G>A	ENST00000282572.4	-	3	1042	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W		NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	296					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			CGCGAGACCCGCAGCATGCGG	0.667													False	0	True	5:54527370	0	A	54527370	G	A	54527370	3	1	58	1	0	0	0	0	1	0	0	0	2956	1086	38	1	170	1	CCNO	5	54527370	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	49223612	54527370	126387890	24	4577											
ZFYVE16	9765	broad.mit.edu	37	chr5	79745505	79745505	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	catttgtcctaaatgctaatCtactcgtgaatgtcaaattc	5	9	2	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:79745505C>G	ENST00000338008.5	+	8	3379	c.3199C>G	c.(3199-3201)Cta>Gta	p.L1067V	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.L1067V|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.L1067V	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1067					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAATGCTAATCTACTCGTGAA	0.323													False	0	False	5:79745505	0	G	79745505	C	G	79745505	3	3	58	1	0	0	0	0	1	0	0	0	17747	912	32	5	3225	5	ZFYVE16	5	79745505	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	25218135	79745505	101169755	25	4578											
NR2F1	7025	broad.mit.edu	37	chr5	92924048	92924048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgcgtcgtggccttcatgGaccacatccgcatcttccag	9	16	2	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:92924048G>A	ENST00000327111.3	+	2	2576	c.889G>A	c.(889-891)Gac>Aac	p.D297N		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	297					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GGCCTTCATGGACCACATCCG	0.657													False	0	False	5:92924048	0	A	92924048	G	A	92924048	3	1	58	1	0	0	0	0	1	0	0	0	10695	1174	41	2	895	2	NR2F1	5	92924048	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	13178543	92924048	87991212	26	4579											
TRIM36	55521	broad.mit.edu	37	chr5	114506859	114506859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagtctgtcgctgtggCaagttccgtcgtcttcccac	12	12	2	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:114506859C>T	ENST00000379618.2	-	2	632	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	TRIM36_ENST00000282369.3_Intron|TRIM36_ENST00000514154.1_Intron	NM_001017397.1	NP_001017397.1	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	0						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GTCGCTGTGGCAAGTTCCGTC	0.473													False	0	False	5:114506859	0	T	114506859	C	T	114506859	3	4	58	1	0	0	0	0	1	0	0	0	16593	710	25	2	2222	2	TRIM36	5	114506859	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	21582811	114506859	66408401	27	4580											
DMXL1	1657	broad.mit.edu	37	chr5	118484750	118484750	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcccaggactttgtgatGcatgtaagtatttttgaatg	9	6	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:118484750G>T	ENST00000311085.8	+	18	3308	c.3228G>T	c.(3226-3228)atG>atT	p.M1076I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M1076I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1076										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTTTGTGATGCATGTAAGTA	0.413													False	0	False	5:118484750	0	T	118484750	G	T	118484750	3	4	58	1	0	0	0	0	1	0	0	0	4624	1319	46	3	3298	3	DMXL1	5	118484750	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	3977891	118484750	62430510	28	4581											
PCDHA8	0	broad.mit.edu	37	chr5	140222650	140222650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagcgagcaagctggtgCcgcggtctgtgggcgcgggc	20	12	1	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:140222650C>T	ENST00000531613.1	+	1	1744	c.1744C>T	c.(1744-1746)Ccg>Tcg	p.P582S	PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P582S|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTGGTGCCGCGGTCTGT	0.682													False	0	False	5:140222650	0	T	140222650	C	T	140222650	3	4	58	1	0	0	0	0	1	0	0	0	11598	739	26	2	1746	2	PCDHA8	5	140222650	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	21737900	140222650	40692610	29	4582											
PCDHGA3	0	broad.mit.edu	37	chr5	140725536	140725536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagagcctcgtggtggccGtccaggaccacggccagccc	14	16	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:140725536G>A	ENST00000253812.6	+	1	1936	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGGCCGTCCAGGACCA	0.711													False	0	False	5:140725536	0	A	140725536	G	A	140725536	3	1	58	1	0	0	0	0	1	0	0	0	11623	1145	40	1	1938	1	PCDHGA3	5	140725536	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	502886	140725536	40189724	30	4583											
VPS52	6293	broad.mit.edu	37	chr6	33234430	33234430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagatgaaaaggtattcGcggcaggaattgtctaggag	13	6	2	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:33234430G>A	ENST00000445902.2	-	12	1403	c.1185C>T	c.(1183-1185)cgC>cgT	p.R395R	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.R270R|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	395					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AAAGGTATTCGCGGCAGGAAT	0.512													False	0	False	6:33234430	0	A	33234430	G	A	33234430	2	1	58	1	0	0	0	0	0	0	0	1	17298	1074	38	1		1	VPS52	6	33234430	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08		33234430	137880637	31	4584											
UBR2	23304	broad.mit.edu	37	chr6	42571440	42571440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaagaaagtgaattgccaGcagatttagagatggtgtaa	11	3	0	4			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:42571440G>A	ENST00000372899.1	+	5	904	c.646G>A	c.(646-648)Gca>Aca	p.A216T	UBR2_ENST00000372903.2_Missense_Mutation_p.A216T|UBR2_ENST00000372901.1_Missense_Mutation_p.A216T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	216					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.A216T(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGAATTGCCAGCAGATTTAGA	0.313													False	0	False	6:42571440	0	A	42571440	G	A	42571440	3	1	58	1	0	0	0	0	1	0	0	0	16986	971	34	2	664	2	UBR2	6	42571440	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	9337010	42571440	128543627	32	4585											
MEP1A	4224	broad.mit.edu	37	chr6	46761185	46761185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttttaccttgctttttgCccacatagcagctgtaccgg	7	12	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:46761185C>T	ENST00000230588.4	+	1	59	c.50C>T	c.(49-51)gCc>gTc	p.A17V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	17					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.A17V(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGCTTTTTGCCCACATAGCA	0.348													False	0	True	6:46761185	0	T	46761185	C	T	46761185	3	4	58	1	0	0	0	0	1	0	0	0	9542	739	26	2	52	2	MEP1A	6	46761185	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	4189745	46761185	124353882	33	4586											
BEND3	57673	broad.mit.edu	37	chr6	107391144	107391144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaagagctcggggaagagCcggtggaggaggaagacggc	20	7	0	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:107391144C>T	ENST00000429433.2	-	5	1900	c.1251G>A	c.(1249-1251)cgG>cgA	p.R417R	BEND3_ENST00000369042.1_Silent_p.R417R	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	417	BEN 2.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CGGGGAAGAGCCGGTGGAGGA	0.632													False	0	False	6:107391144	0	T	107391144	C	T	107391144	2	4	58	1	0	0	0	0	0	0	0	1	1403	726	26	2		2	BEND3	6	107391144	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	60629959	107391144	63723923	34	4587											
TMEM200A	114801	broad.mit.edu	37	chr6	130761706	130761706	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaggcgccggccccgggcaGatgttgtggttgttcgtggc	17	11	1	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:130761706G>T	ENST00000392429.1	+	2	2517	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	TMEM200A_ENST00000296978.3_Missense_Mutation_p.D47Y|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D47Y	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	47						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCCCCGGGCAGATGTTGTGGT	0.507													False	0	False	6:130761706	0	T	130761706	G	T	130761706	3	4	58	1	0	0	0	0	1	0	0	0	16205	942	33	3	141	3	TMEM200A	6	130761706	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	23370562	130761706	40353361	35	4588											
BCLAF1	9774	broad.mit.edu	37	chr6	136590752	136590753	+	Splice_Site	INS	-	-	TTTG													ccttaattttttatctccctINSataaaagacagatataaaat					rs79318021		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:136590752_136590753insTTTG	ENST00000531224.1	-	9	2296		c.e9-2		BCLAF1_ENST00000392348.2_Splice_Site|BCLAF1_ENST00000527536.1_Splice_Site|BCLAF1_ENST00000353331.4_Splice_Site|BCLAF1_ENST00000527759.1_Splice_Site|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Splice_Site	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTATCTCCCTATAAAAGACAG	0.356													False	0	False	6:136590752	0	TTTG	136590753	-	TTTG	136590752	8	5	58	1	0	1	1	0	0	0	1	0	1387	1536	53	0	740	0	BCLAF1	6	136590752	Splice_Site	INS	-	TCGA-HV-AA8X-01A-11D-A397-08	5829046	136590752	34524315	36	4589											
HOXA5	3202	broad.mit.edu	37	chr7	27182747	27182747	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggctcgctctgcgcactCgcctgctcgctgctggcagg	13	17	1	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:27182747C>T	ENST00000222726.3	-	1	540	c.480G>A	c.(478-480)gcG>gcA	p.A160A	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	160					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A160A(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TCTGCGCACTCGCCTGCTCGC	0.692													False	0	False	7:27182747	0	T	27182747	C	T	27182747	2	4	58	1	0	0	0	0	0	0	0	1	7342	871	31	1		1	HOXA5	7	27182747	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		27182747	131955916	37	4590											
SLC12A9	56996	broad.mit.edu	37	chr7	100463601	100463601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgggccagcggggccttgCcccctgagcggctgagccgg	17	17	0	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:100463601C>T	ENST00000354161.3	+	14	2244	c.2119C>T	c.(2119-2121)Ccc>Tcc	p.P707S		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	707						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGGGCCTTGCCCCCTGAGCG	0.711													False	0	True	7:100463601	0	T	100463601	C	T	100463601	3	4	58	1	0	0	0	0	1	0	0	0	14471	739	26	2	2169	2	SLC12A9	7	100463601	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	73280854	100463601	58675062	38	4591											
TSPAN12	23554	broad.mit.edu	37	chr7	120478922	120478922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaacagcaatcatgaccGgatgaaccacaggaaagtaa	9	9	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:120478922G>A	ENST00000222747.3	-	4	801	c.194C>T	c.(193-195)cCg>cTg	p.P65L	TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	65					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction		p.P65Q(1)		endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AATCATGACCGGATGAACCAC	0.373													False	0	False	7:120478922	0	A	120478922	G	A	120478922	3	1	58	1	0	0	0	0	1	0	0	0	16719	1116	39	1	743	1	TSPAN12	7	120478922	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	20015321	120478922	38659741	39	4592											
ASB15	142685	broad.mit.edu	37	chr7	123269120	123269120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgcgctgtattttggcGtttctaataatgacgttcat	9	7	2	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:123269120G>A	ENST00000451558.1	+	12	1593	c.1072G>A	c.(1072-1074)Gtt>Att	p.V358I	ASB15_ENST00000275699.3_Missense_Mutation_p.V358I|ASB15_ENST00000434204.1_Missense_Mutation_p.V358I|ASB15_ENST00000540573.1_Missense_Mutation_p.V358I|ASB15_ENST00000451215.1_Missense_Mutation_p.V358I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	358					intracellular signal transduction			p.V358I(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GTATTTTGGCGTTTCTAATAA	0.458													False	0	True	7:123269120	0	A	123269120	G	A	123269120	3	1	58	1	0	0	0	0	1	0	0	0	1023	1145	40	1	1098	1	ASB15	7	123269120	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	2790198	123269120	35869543	40	4593											
MAPK15	225689	broad.mit.edu	37	chr8	144804265	144804265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctccccggcttcctccGgaggcccggcccggccggag	14	20	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:144804265G>A	ENST00000338033.4	+	14	1598	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	493					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCTTCCTCCGGAGGCCCGGC	0.652													False	0	False	8:144804265	0	A	144804265	G	A	144804265	2	1	58	1	0	0	0	0	0	0	0	1	9344	1103	39	1		1	MAPK15	8	144804265	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08		144804265	1559757	41	4594											
RBM17	84991	broad.mit.edu	37	chr10	6157416	6157416	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttttgtttgcctttcagCggttgttgacttgaatggga	12	6	2	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:6157416C>T	ENST00000446108.1	+	12	1747	c.1103C>T	c.(1102-1104)gCg>gTg	p.A368V	RBM17_ENST00000379888.4_Splice_Site_p.A368V|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	368	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TGCCTTTCAGCGGTTGTTGAC	0.353													False	0	False	10:6157416	0	T	6157416	C	T	6157416	5	4	58	1	0	0	0	0	0	0	1	0	13198	782	27	1	1145	1	RBM17	10	6157416	Splice_Site	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		6157416	129377331	42	4595											
MYO3A	53904	broad.mit.edu	37	chr10	26432452	26432452	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcccctcttagatatgtttCtgcaaaagccaatgggttta	9	9	2	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:26432452C>A	ENST00000265944.5	+	21	2504	c.2338C>A	c.(2338-2340)Ctg>Atg	p.L780M	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	780	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGATATGTTTCTGCAAAAGCC	0.383													False	0	True	10:26432452	0	A	26432452	C	A	26432452	3	1	58	1	0	0	0	0	1	0	0	0	10143	912	32	3	2412	3	MYO3A	10	26432452	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	20275036	26432452	109102295	43	4596											
LZTS2	84445	broad.mit.edu	37	chr10	102765276	102765276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgcgagaggactgtgCggcccaggcacagcgggcac	17	14	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:102765276C>T	ENST00000370220.1	+	3	4193	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	LZTS2_ENST00000370223.3_Missense_Mutation_p.A377V			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	377					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGGACTGTGCGGCCCAGGCA	0.657													False	0	False	10:102765276	0	T	102765276	C	T	102765276	3	4	58	1	0	0	0	0	1	0	0	0	9202	768	27	1	1140	1	LZTS2	10	102765276	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	76332824	102765276	32769471	44	4597											
PNLIP	5406	broad.mit.edu	37	chr10	118318720	118318721	+	Frame_Shift_Ins	INS	-	-	A													acagatgggtcactatgctgINSatagatatcctgggaaaaca							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:118318720_118318721insA	ENST00000369221.2	+	10	1013_1014	c.985_986insA	c.(985-987)gatfs	p.D329fs		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	329					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TCACTATGCTGATAGATATCCT	0.401													False	1	True	10:118318720	0	A	118318721	-	A	118318720	7	5	58	1	0	1	1	0	0	0	0	0	12218	1290	45	0	1019	0	PNLIP	10	118318720	Frame_Shift_Ins	INS	-	TCGA-HV-AA8X-01A-11D-A397-08	15553444	118318720	17216027	45	4598											
INPP5F	22876	broad.mit.edu	37	chr10	121551520	121551521	+	Frame_Shift_Ins	INS	-	-	GAGG													cagaggcagagcactggggaINSgagggacggtcggcccctct							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:121551520_121551521insGAGG	ENST00000361976.2	+	5	750_751	c.584_585insGAGG	c.(583-588)gagaggfs	p.-196fs	INPP5F_ENST00000369081.1_Frame_Shift_Ins_p.-100fs|INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.-196fs	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F								phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCACTGGGGAGAGGGACGGTC	0.5													False	1	False	10:121551520	0	GAGG	121551521	-	GAGG	121551520	7	5	58	1	0	1	1	0	0	0	0	0	7808	304	11	0	602	0	INPP5F	10	121551520	Frame_Shift_Ins	INS	-	TCGA-HV-AA8X-01A-11D-A397-08	3232800	121551520	13983227	46	4599											
LRP5	4041	broad.mit.edu	37	chr11	68216515	68216515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctcttcccgccccctccgTccccctgcacggactcatcc	5	23	2	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:68216515T>C	ENST00000294304.7	+	23	4931	c.4825T>C	c.(4825-4827)Tcc>Ccc	p.S1609P	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1609	Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCCCCTCCGTCCCCCTGCAC	0.582													False	0	True	11:68216515	0	C	68216515	T	C	68216515	3	2	58	1	0	0	0	0	1	0	0	0	9022	1667	58	4	4915	4	LRP5	11	68216515	Missense_Mutation	SNP	T	TCGA-HV-AA8X-01A-11D-A397-08		68216515	66790001	47	4600											
GDPD4	220032	broad.mit.edu	37	chr11	76982196	76982196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctttccaaacatgccaCgtagaaggccacaggccaga	8	13	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:76982196C>T	ENST00000315938.4	-	6	629	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	GDPD4_ENST00000376217.2_Missense_Mutation_p.V127M	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	127					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AAACATGCCACGTAGAAGGCC	0.483													False	0	False	11:76982196	0	T	76982196	C	T	76982196	3	4	58	1	0	0	0	0	1	0	0	0	6371	536	19	1	1227	1	GDPD4	11	76982196	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	8765681	76982196	58024320	48	4601											
ROBO3	64221	broad.mit.edu	37	chr11	124749808	124749808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggaaagcggtccaggccGtgcccctggcagcccagcgg	16	14	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:124749808G>A	ENST00000397801.1	+	26	4114	c.3922G>A	c.(3922-3924)Gtg>Atg	p.V1308M	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Missense_Mutation_p.V71M|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1286M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1308					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGTCCAGGCCGTGCCCCTGGC	0.692													False	0	False	11:124749808	0	A	124749808	G	A	124749808	3	1	58	1	0	0	0	0	1	0	0	0	13594	1145	40	1	4024	1	ROBO3	11	124749808	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	47767612	124749808	10256708	49	4602											
NOP2	4839	broad.mit.edu	37	chr12	6672578	6672578	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgagccggttcaggtattcaGaacgagaccgcccttcctcc	10	14	2	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:6672578G>A	ENST00000541778.1	-	8	1267	c.779C>T	c.(778-780)tCt>tTt	p.S260F	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F|NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000322166.5_Missense_Mutation_p.S264F|NOP2_ENST00000399466.2_Missense_Mutation_p.S260F|NOP2_ENST00000537442.1_Missense_Mutation_p.S264F			P46087	NOP2_HUMAN	NOP2 nucleolar protein	264					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAGGTATTCAGAACGAGACCG	0.542											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:6672578	0	A	6672578	G	A	6672578	3	1	58	1	0	0	0	0	1	0	0	0	10606	942	33	2	1683	2	NOP2	12	6672578	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08		6672578	127179317	50	4603											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	58	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	18725706	25398284	108453611	51	4604											
TUBA1B	10376	broad.mit.edu	37	chr12	49523505	49523505	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatggagatgcactcacGctgcgggaaggaaaaaagat	15	6	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:49523505G>A	ENST00000336023.5	-	2	98	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	2					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						ATGCACTCACGCTGCGGGAAG	0.468													False	0	False	12:49523505	0	A	49523505	G	A	49523505	5	1	58	1	0	0	0	0	0	0	1	0	16828	1101	38	1	1363	1	TUBA1B	12	49523505	Splice_Site	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	24125221	49523505	84328390	52	4605											
OSBPL8	114882	broad.mit.edu	37	chr12	76779953	76779953	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgcatttctaatacctgttCagcaatataaaaagttttgc	5	7	2	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:76779953C>A	ENST00000261183.3	-	14	2007	c.1528G>T	c.(1528-1530)Gaa>Taa	p.E510*	OSBPL8_ENST00000393250.4_Nonsense_Mutation_p.E468*|OSBPL8_ENST00000393249.2_Nonsense_Mutation_p.E468*	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	510					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AATACCTGTTCAGCAATATAA	0.318													False	0	False	12:76779953	0	A	76779953	C	A	76779953	4	1	58	1	0	0	0	0	0	1	0	0	11351	835	29	3	1185	3	OSBPL8	12	76779953	Nonsense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	27256448	76779953	57071942	53	4606											
KSR2	283455	broad.mit.edu	37	chr12	117977587	117977587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgtaggggagaaggcgGcgtggcactaggagggaggg	24	4	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:117977587G>A	ENST00000425217.1	-	10	1591	c.1537C>T	c.(1537-1539)Ccg>Tcg	p.P513S	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.P542S|KSR2_ENST00000302438.5_Missense_Mutation_p.P239S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	542	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAGAAGGCGGCGTGGCACTA	0.647													False	0	False	12:117977587	0	A	117977587	G	A	117977587	3	1	58	1	0	0	0	0	1	0	0	0	8633	1203	42	2	1272	2	KSR2	12	117977587	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	41197634	117977587	15874308	54	4607											
OR4K17	390436	broad.mit.edu	37	chr14	20586444	20586444	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttatctacatttggcccttCggcaaccactctgtagataa	6	11	2	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:20586444C>T	ENST00000315543.4	+	1	879	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTGGCCCTTCGGCAACCACT	0.418													False	0	False	14:20586444	0	T	20586444	C	T	20586444	2	4	58	1	0	0	0	0	0	0	0	1	11139	883	31	1		1	OR4K17	14	20586444	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		20586444	86763096	55	4608											
NPAS3	64067	broad.mit.edu	37	chr14	34270091	34270091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggacgttaacagccccGgctttggcctcgaccccaag	11	15	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:34270091G>A	ENST00000346562.2	+	11	2556	c.2482G>A	c.(2482-2484)Ggc>Agc	p.G828S	NPAS3_ENST00000551492.1_Missense_Mutation_p.G865S|NPAS3_ENST00000548645.1_Missense_Mutation_p.G830S|NPAS3_ENST00000357798.5_Missense_Mutation_p.G847S|NPAS3_ENST00000356141.4_Missense_Mutation_p.G860S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	860					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TAACAGCCCCGGCTTTGGCCT	0.652													False	0	True	14:34270091	0	A	34270091	G	A	34270091	3	1	58	1	0	0	0	0	1	0	0	0	10632	1116	39	1	2679	1	NPAS3	14	34270091	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	13683647	34270091	73079449	56	4609											
MGAT2	4247	broad.mit.edu	37	chr14	50088597	50088597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagacctgccgaagaatgCcgctttgaaattggggtgca	13	9	0	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:50088597C>T	ENST00000305386.2	+	1	1109	c.611C>T	c.(610-612)gCc>gTc	p.A204V	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	204					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					CCGAAGAATGCCGCTTTGAAA	0.502													False	0	False	14:50088597	0	T	50088597	C	T	50088597	3	4	58	1	0	0	0	0	1	0	0	0	9610	739	26	2	613	2	MGAT2	14	50088597	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	15818506	50088597	57260943	57	4610											
GPHN	10243	broad.mit.edu	37	chr14	67626189	67626189	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagatccattttggcaggGtttttatgaaaccagggtat	10	7	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:67626189G>T	ENST00000478722.1	+	19	3015	c.1894G>T	c.(1894-1896)Gtt>Ttt	p.V632F	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.V568F|GPHN_ENST00000315266.5_Missense_Mutation_p.V599F|GPHN_ENST00000543237.1_Missense_Mutation_p.V645F	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	599	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTTTGGCAGGGTTTTTATGAA	0.333			T	MLL	AL								False	0	True	14:67626189	0	T	67626189	G	T	67626189	3	4	58	1	0	0	0	0	1	0	0	0	6656	1261	44	3	1968	3	GPHN	14	67626189	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	17537592	67626189	39723351	58	4611											
C15orf41	84529	broad.mit.edu	37	chr15	36989551	36989551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatgagcatgaggtcctGctgagagacttgcttctaga	13	8	2	5			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:36989551G>A	ENST00000566621.1	+	8	754	c.504G>A	c.(502-504)ctG>ctA	p.L168L	C15orf41_ENST00000569302.1_Silent_p.L168L|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000437989.2_Silent_p.L168L|C15orf41_ENST00000562877.1_Silent_p.L70L|C15orf41_ENST00000338183.4_Silent_p.L70L|C15orf41_ENST00000567389.1_Silent_p.L70L	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	168							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		ATGAGGTCCTGCTGAGAGACT	0.423													False	0	False	15:36989551	0	A	36989551	G	A	36989551	2	1	58	1	0	0	0	0	0	0	0	1	1804	1306	46	2		2	C15orf41	15	36989551	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08		36989551	65541841	59	4612											
RPAP1	26015	broad.mit.edu	37	chr15	41813192	41813192	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagactggctcgggctggCgagcaatgagtcaggtagca	16	9	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:41813192C>T	ENST00000304330.4	-	22	3308	c.3192G>A	c.(3190-3192)tcG>tcA	p.S1064S	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1064	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTCGGGCTGGCGAGCAATGAG	0.662													False	0	False	15:41813192	0	T	41813192	C	T	41813192	2	4	58	1	0	0	0	0	0	0	0	1	13620	755	27	1		1	RPAP1	15	41813192	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	4823641	41813192	60718200	60	4613											
ACAN	176	broad.mit.edu	37	chr15	89382241	89382241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgaggtgatgcatggcatcGaggacagcgaggccaccctg	16	11	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:89382241G>A	ENST00000439576.2	+	3	792	c.418G>A	c.(418-420)Gag>Aag	p.E140K	ACAN_ENST00000352105.7_Missense_Mutation_p.E140K|ACAN_ENST00000559004.1_Missense_Mutation_p.E140K|ACAN_ENST00000561243.1_Missense_Mutation_p.E140K|ACAN_ENST00000558207.1_Missense_Mutation_p.E140K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	140					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCATGGCATCGAGGACAGCGA	0.612													False	0	False	15:89382241	0	A	89382241	G	A	89382241	3	1	58	1	0	0	0	0	1	0	0	0	117	1059	37	1	424	1	ACAN	15	89382241	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	47569049	89382241	13149151	61	4614											
ST8SIA2	8128	broad.mit.edu	37	chr15	93007522	93007522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacctcccaggccagcccGcataccatgcccttggagtt	8	17	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:93007522G>A	ENST00000268164.3	+	6	1272	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	ST8SIA2_ENST00000539113.1_Silent_p.P324P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	345					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AGGCCAGCCCGCATACCATGC	0.572													False	0	True	15:93007522	0	A	93007522	G	A	93007522	2	1	58	1	0	0	0	0	0	0	0	1	15314	1074	38	1		1	ST8SIA2	15	93007522	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	3625281	93007522	9523870	62	4615											
SLC5A11	115584	broad.mit.edu	37	chr16	24883505	24883505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttctgtgctgatgttgGcctggatcttcctacccatc	9	11	2	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:24883505G>A	ENST00000347898.3	+	5	959	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	SLC5A11_ENST00000565769.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A113T|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A113T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A49T	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	113					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCTGATGTTGGCCTGGATCTT	0.517													False	0	False	16:24883505	0	A	24883505	G	A	24883505	3	1	58	1	0	0	0	0	1	0	0	0	14743	1203	42	2	351	2	SLC5A11	16	24883505	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08		24883505	65471248	63	4616											
OGFOD1	55239	broad.mit.edu	37	chr16	56509440	56509441	+	Frame_Shift_Ins	INS	-	-	GTTTTTTT													tgggagccagaatatggcggINSttttacttcttacattgcca					rs147207036	by1000genomes	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:56509440_56509441insGTTTTTTT	ENST00000566157.1	+	12	1553_1554	c.1430_1431insGTTTTTTT	c.(1429-1434)ggttttfs	p.-478fs	OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.-435fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1								iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GAATATGGCGGTTTTACTTCTT	0.366													False	0	True	16:56509440	0	GTTTTTTT	56509441	-	GTTTTTTT	56509440	7	5	58	1	0	1	1	0	0	0	0	0	10909	1261	44	0	1476	0	OGFOD1	16	56509440	Frame_Shift_Ins	INS	-	TCGA-HV-AA8X-01A-11D-A397-08	31625935	56509440	33845313	64	4617											
TPPP3	51673	broad.mit.edu	37	chr16	67424140	67424140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcacgtagccactgtcGtccaggatgtcctgccgtcc	11	16	1	0	rs137924465	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:67424140G>A	ENST00000564104.1	-	3	1309	c.468C>T	c.(466-468)gaC>gaT	p.D156D	TPPP3_ENST00000562206.1_Silent_p.D156D|TPPP3_ENST00000290942.5_Silent_p.D156D|TPPP3_ENST00000393957.2_Silent_p.D156D			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	156					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		AGCCACTGTCGTCCAGGATGT	0.627													False	0	False	16:67424140	0	A	67424140	G	A	67424140	2	1	58	1	0	0	0	0	0	0	0	1	16498	1136	40	1		1	TPPP3	16	67424140	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	10914700	67424140	22930613	65	4618											
C16orf74	404550	broad.mit.edu	37	chr16	85743833	85743833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggggcgtgatgatgatgtCgggcacgtccaggtgcttgt	19	7	0	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:85743833C>T	ENST00000602583.1	-	1	623	c.73G>A	c.(73-75)Gac>Aac	p.D25N	C16orf74_ENST00000602719.1_Missense_Mutation_p.D37N|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000284245.4_Missense_Mutation_p.D37N			Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	37																	ATGATGATGTCGGGCACGTCC	0.662													False	0	True	16:85743833	0	T	85743833	C	T	85743833	3	4	58	1	0	0	0	0	1	0	0	0	1843	884	31	1	129	1	C16orf74	16	85743833	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	18319693	85743833	4610920	66	4619											
TP53	7157	broad.mit.edu	37	chr17	7577505	7577505	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aagtggctcctgacctggagTcttccagtgtgatgatggtg	14	8	1	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:7577505T>A	ENST00000420246.2	-	7	908	c.776A>T	c.(775-777)gAc>gTc	p.D259V	TP53_ENST00000413465.2_Missense_Mutation_p.D259V|TP53_ENST00000445888.2_Missense_Mutation_p.D259V|TP53_ENST00000269305.4_Missense_Mutation_p.D259V|TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000455263.2_Missense_Mutation_p.D259V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	259	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACCTGGAGTCTTCCAGTGT	0.587		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)			False	0	False	17:7577505	0	A	7577505	T	A	7577505	3	1	58	1	0	0	0	0	1	0	0	0	16464	1667	58	5	514	5	TP53	17	7577505	Missense_Mutation	SNP	T	TCGA-HV-AA8X-01A-11D-A397-08		7577505	73617705	67	4620											
SLFN13	146857	broad.mit.edu	37	chr17	33771812	33771812	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaacacttctacgattttGgtgctgtactctacccgagg	8	11	2	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:33771812G>T	ENST00000285013.6	-	3	1163	c.888C>A	c.(886-888)acC>acA	p.T296T	SLFN13_ENST00000542635.1_Silent_p.T296T|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000526861.1_Silent_p.T296T|SLFN13_ENST00000533791.1_Silent_p.T296T|SLFN13_ENST00000534689.1_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	296						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTACGATTTTGGTGCTGTACT	0.413													False	0	True	17:33771812	0	T	33771812	G	T	33771812	2	4	58	1	0	0	0	0	0	0	0	1	14816	1335	47	3		3	SLFN13	17	33771812	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	26194307	33771812	47423398	68	4621											
PLEKHH3	79990	broad.mit.edu	37	chr17	40825305	40825305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacggcctctgggtcccCgcaactttcctagggggcca	13	15	1	0	rs139853357		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:40825305C>T	ENST00000293349.6	-	6	1088	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	PLEKHH3_ENST00000591022.1_Missense_Mutation_p.G220R|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G220R|PLEKHH3_ENST00000456950.2_5'UTR			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	220					signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCTGGGTCCCCGCAACTTTCC	0.597													False	0	True	17:40825305	0	T	40825305	C	T	40825305	3	4	58	1	0	0	0	0	1	0	0	0	12147	652	23	1	1755	1	PLEKHH3	17	40825305	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	7053493	40825305	40369905	69	4622											
CACNA1G	8913	broad.mit.edu	37	chr17	48650072	48650072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccttgcggtctggacTatgaggcctacaacagctcc	10	15	1	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:48650072T>C	ENST00000352832.5	+	6	1276	c.904T>C	c.(904-906)Tat>Cat	p.Y302H	CACNA1G_ENST00000416767.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Y302H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	302					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGTCTGGACTATGAGGCCTA	0.637													False	0	False	17:48650072	0	C	48650072	T	C	48650072	3	2	58	1	0	0	0	0	1	0	0	0	2564	1522	53	4	926	4	CACNA1G	17	48650072	Missense_Mutation	SNP	T	TCGA-HV-AA8X-01A-11D-A397-08	7824767	48650072	32545138	70	4623											
VEZF1	7716	broad.mit.edu	37	chr17	56060674	56060674	+	Frame_Shift_Del	DEL	A	A	-													ggaagcaatggtttctgatcAgggggctccacggcagagct							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:56060674delA	ENST00000584396.1	-	2	175	c.87delT	c.(85-87)cctfs	p.P29fs	VEZF1_ENST00000581208.1_Frame_Shift_Del_p.P38fs			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	38					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GTTTCTGATCAGGGGGCTCCA	0.473													False	1	True	17:56060674	0	-	56060674	A	-	56060674	7	5	58	1	0	1	0	1	0	0	0	0	17239	175	7	0	1471	0	VEZF1	17	56060674	Frame_Shift_Del	DEL	A	TCGA-HV-AA8X-01A-11D-A397-08	7410602	56060674	25134536	71	4624											
OSBPL1A	114876	broad.mit.edu	37	chr18	21894217	21894217	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaatccataagattacctctCttgactgctgaaggctattc	7	10	1	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21894217C>G	ENST00000319481.3	-	12	1171	c.965G>C	c.(964-966)aGa>aCa	p.R322T		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	322	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GATTACCTCTCTTGACTGCTG	0.378													False	0	True	18:21894217	0	G	21894217	C	G	21894217	3	3	58	1	0	0	0	0	1	0	0	0	11345	913	32	5	1955	5	OSBPL1A	18	21894217	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		21894217	56183031	72	4625			1	7		4	4	4381	C		3.879381e-07
OSBPL1A	114876	broad.mit.edu	37	chr18	21894274	21894274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaatggtgtcatcaaagCatttaataaagaagaggcag	10	5	2	3			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21894274C>T	ENST00000319481.3	-	12	1114	c.908G>A	c.(907-909)tGc>tAc	p.C303Y		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	303	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GTCATCAAAGCATTTAATAAA	0.363													False	0	False	18:21894274	0	T	21894274	C	T	21894274	3	4	58	1	0	0	0	0	1	0	0	0	11345	710	25	2	2012	2	OSBPL1A	18	21894274	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	57	21894274	56182974	73	4626			1	7		4	4	4381	C		3.879381e-07
OSBPL1A	114876	broad.mit.edu	37	chr18	21897296	21897296	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcataatacttactgtttCctataccatgaaaggactcc	5	10	1	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21897296C>T	ENST00000319481.3	-	10	1007	c.801G>A	c.(799-801)agG>agA	p.R267R		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	267	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTACTGTTTCCTATACCATG	0.313													False	0	True	18:21897296	0	T	21897296	C	T	21897296	2	4	58	1	0	0	0	0	0	0	0	1	11345	854	30	2		2	OSBPL1A	18	21897296	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	3022	21897296	56179952	74	4627			1	7		4	4	4381	C		3.879381e-07
OSBPL1A	114876	broad.mit.edu	37	chr18	21898597	21898597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctcatatcgtttcaatgCtttgtagatgacctgtcaaa	7	10	3	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21898597C>A	ENST00000319481.3	-	9	906	c.700G>T	c.(700-702)Gca>Tca	p.A234S		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	234					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CGTTTCAATGCTTTGTAGATG	0.279													False	0	True	18:21898597	0	A	21898597	C	A	21898597	3	1	58	1	0	0	0	0	1	0	0	0	11345	797	28	3	2232	3	OSBPL1A	18	21898597	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	1301	21898597	56178651	75	4628			1	7		4	4	4381	C		3.879381e-07
SMAD4	4089	broad.mit.edu	37	chr18	48575209	48575209	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatccatatcactacgaaCgagttgtatcacctggaatt	7	9	2	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:48575209C>T	ENST00000342988.3	+	3	941	c.403C>T	c.(403-405)Cga>Tga	p.R135*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R135*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R135*|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.R135*|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	135	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R135*(4)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCACTACGAACGAGTTGTATC	0.328													False	0	True	18:48575209	0	T	48575209	C	T	48575209	4	4	58	1	0	0	0	0	0	1	0	0	14840	528	19	1	409	1	SMAD4	18	48575209	Nonsense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	26676612	48575209	29502039	76	4629											
ALPK2	115701	broad.mit.edu	37	chr18	56204451	56204451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attattagcagttaatgttgTtggcttctcccaaggaaaac	8	7	1	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:56204451T>C	ENST00000361673.3	-	5	3181	c.2968A>G	c.(2968-2970)Aca>Gca	p.T990A	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	990							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTAATGTTGTTGGCTTCTCC	0.488													False	0	False	18:56204451	0	C	56204451	T	C	56204451	3	2	58	1	0	0	0	0	1	0	0	0	545	1725	60	4	3580	4	ALPK2	18	56204451	Missense_Mutation	SNP	T	TCGA-HV-AA8X-01A-11D-A397-08	7629242	56204451	21872797	77	4630											
ZNF266	0	broad.mit.edu	37	chr19	9526402	9526402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactctttggttttaagttgCactttccattctgaagctga	7	8	2	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:9526402C>T	ENST00000592904.1	-	4	2208	c.132G>A	c.(130-132)gtG>gtA	p.V44V	ZNF266_ENST00000361451.2_Silent_p.V44V|ZNF266_ENST00000592292.1_Silent_p.V44V|ZNF266_ENST00000588221.1_Silent_p.V44V|ZNF266_ENST00000361151.1_Silent_p.V44V|ZNF266_ENST00000588933.1_Silent_p.V44V|ZNF266_ENST00000590306.1_Silent_p.V44V			Q14584	ZN266_HUMAN	zinc finger protein 266	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTTAAGTTGCACTTTCCATT	0.418													False	0	False	19:9526402	0	T	9526402	C	T	9526402	2	4	58	1	0	0	0	0	0	0	0	1	17888	697	25	2		2	ZNF266	19	9526402	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		9526402	49602581	78	4631											
ABHD8	79575	broad.mit.edu	37	chr19	17411740	17411740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcatgtcctcagccagcGcatagaaggtgtaggctgcg	13	12	1	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:17411740G>A	ENST00000247706.3	-	2	925	c.686C>T	c.(685-687)gCg>gTg	p.A229V	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	229							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CTCAGCCAGCGCATAGAAGGT	0.602													False	0	True	19:17411740	0	A	17411740	G	A	17411740	3	1	58	1	0	0	0	0	1	0	0	0	87	1087	38	1	649	1	ABHD8	19	17411740	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	7885338	17411740	41717243	79	4632											
RSPH6A	81492	broad.mit.edu	37	chr19	46299167	46299168	+	In_Frame_Ins	INS	-	-	CCTCCTCCTCCTCGC													ctcctcctcctcctcgccctINScctcctcctcctctgtggct							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:46299167_46299168insCCTCCTCCTCCTCGC	ENST00000221538.3	-	6	2255_2256	c.2113_2114insGCGAGGAGGAGGAGG	c.(2113-2115)gag>gGCGAGGAGGAGGAGGag	p.704_705insGEEEE	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Ins_p.440_441insGEEEE	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	704	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ctcctcgccctcctcctcctcc	0.589													False	0	True	19:46299167	0	CCTCCTCCTCCTCGC	46299168	-	CCTCCTCCTCCTCGC	46299167	7	5	58	1	0	1	1	0	0	0	0	0	13786	1551	54	0	43	0	RSPH6A	19	46299167	In_Frame_Ins	INS	-	TCGA-HV-AA8X-01A-11D-A397-08	28887427	46299167	12829816	80	4633											
IL4I1	259307	broad.mit.edu	37	chr19	50399114	50399114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttggcggccaccagcccGgccacaccagcgccaaccac	9	21	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:50399114G>A	ENST00000595948.1	-	5	896	c.276C>T	c.(274-276)gcC>gcT	p.A92A	IL4I1_ENST00000341114.3_Silent_p.A92A|IL4I1_ENST00000391826.2_Silent_p.A70A	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	70						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CCACCAGCCCGGCCACACCAG	0.627													False	0	True	19:50399114	0	A	50399114	G	A	50399114	2	1	58	1	0	0	0	0	0	0	0	1	7747	1103	39	1		1	IL4I1	19	50399114	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	4099947	50399114	8729869	81	4634											
SIGLEC7	27036	broad.mit.edu	37	chr19	51647834	51647834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccacccgctcctcagtgcTcaccctcatcccacagcccc	4	24	3	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:51647834T>C	ENST00000317643.6	+	2	674	c.605T>C	c.(604-606)cTc>cCc	p.L202P	SIGLEC7_ENST00000305628.7_Intron|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	202	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TCCTCAGTGCTCACCCTCATC	0.657													False	0	False	19:51647834	0	C	51647834	T	C	51647834	3	2	58	1	0	0	0	0	1	0	0	0	14394	1551	54	4	611	4	SIGLEC7	19	51647834	Missense_Mutation	SNP	T	TCGA-HV-AA8X-01A-11D-A397-08	1248720	51647834	7481149	82	4635											
TSEN34	79042	broad.mit.edu	37	chr19	54696142	54696142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccacgagctgcgctaCagtatctacagagacctgtg	10	14	1	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:54696142C>T	ENST00000396383.1	+	4	974	c.663C>T	c.(661-663)taC>taT	p.Y221Y	TSEN34_ENST00000429671.2_Silent_p.Y221Y|TSEN34_ENST00000396388.2_Silent_p.Y221Y|TSEN34_ENST00000302937.4_Silent_p.Y221Y			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	221					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGCTGCGCTACAGTATCTACA	0.642													False	0	False	19:54696142	0	T	54696142	C	T	54696142	2	4	58	1	0	0	0	0	0	0	0	1	16696	489	17	2		2	TSEN34	19	54696142	Silent	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08	3048308	54696142	4432841	83	4636											
LILRB1	0	broad.mit.edu	37	chr19	55144146	55144146	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggggccagtacagatgctAcggtgcacacaacctctcct	11	14	1	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:55144146A>C	ENST00000396331.1	+	7	1250	c.893A>C	c.(892-894)tAc>tCc	p.Y298S	LILRB1_ENST00000396327.3_Missense_Mutation_p.Y298S|LILRB1_ENST00000324602.7_Missense_Mutation_p.Y298S|LILRB1_ENST00000396332.4_Missense_Mutation_p.Y298S|LILRB1_ENST00000434867.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396321.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000448689.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000396317.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000427581.2_Missense_Mutation_p.Y334S|LILRB1_ENST00000396315.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000418536.2_Missense_Mutation_p.Y298S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	298	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TACAGATGCTACGGTGCACAC	0.672										HNSCC(37;0.09)			False	0	False	19:55144146	0	C	55144146	A	C	55144146	3	2	58	1	0	0	0	0	1	0	0	0	8842	391	14	4	911	4	LILRB1	19	55144146	Missense_Mutation	SNP	A	TCGA-HV-AA8X-01A-11D-A397-08	448004	55144146	3984837	84	4637											
KIR3DL2	3812	broad.mit.edu	37	chr19	55378105	55378105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagataccagcgtgtacacGgaacttccaaatgctgagcc	9	12	0	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:55378105G>A	ENST00000326321.3	+	9	1320	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	KIR3DL1_ENST00000402254.2_Silent_p.T429T|KIR3DL2_ENST00000270442.5_Silent_p.T412T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	429					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCGTGTACACGGAACTTCCAA	0.522													False	0	False	19:55378105	0	A	55378105	G	A	55378105	2	1	58	1	0	0	0	0	0	0	0	1	8371	1103	39	1		1	KIR3DL2	19	55378105	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	233959	55378105	3750878	85	4638											
KIF16B	55614	broad.mit.edu	37	chr20	16360059	16360059	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatgttcacattttaaaCactctaggatctcctgttct	5	10	5	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:16360059C>G	ENST00000354981.2	-	19	2745	c.2588G>C	c.(2587-2589)tGt>tCt	p.C863S	KIF16B_ENST00000408042.1_Missense_Mutation_p.C863S|KIF16B_ENST00000378003.2_Missense_Mutation_p.C89S|KIF16B_ENST00000355755.3_Missense_Mutation_p.C863S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	863	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACATTTTAAACACTCTAGGAT	0.403													False	0	True	20:16360059	0	G	16360059	C	G	16360059	3	3	58	1	0	0	0	0	1	0	0	0	8328	478	17	5	1397	5	KIF16B	20	16360059	Missense_Mutation	SNP	C	TCGA-HV-AA8X-01A-11D-A397-08		16360059	46665461	86	4639											
MYH7B	57644	broad.mit.edu	37	chr20	33588844	33588844	+	Frame_Shift_Del	DEL	G	G	-													caggacacaagtgcacacctGgaacggatgaagaagacgct							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:33588844delG	ENST00000262873.7	+	39	5576	c.5484delG	c.(5482-5484)ctgfs	p.L1828fs		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1786						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GTGCACACCTGGAACGGATGA	0.652													False	2	False	20:33588844	0	-	33588844	G	-	33588844	7	5	58	1	0	1	0	1	0	0	0	0	10107	1335	47	0	5638	0	MYH7B	20	33588844	Frame_Shift_Del	DEL	G	TCGA-HV-AA8X-01A-11D-A397-08	17228785	33588844	29436676	87	4640											
MCM5	4174	broad.mit.edu	37	chr22	35796511	35796511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgacgaggggcaggcccGcaaatcgcagctgcagaggc	17	13	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr22:35796511G>A	ENST00000216122.4	+	2	234	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MCM5_ENST00000382011.5_Missense_Mutation_p.R27H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	27					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGGCAGGCCCGCAAATCGCAG	0.647													False	0	True	22:35796511	0	A	35796511	G	A	35796511	3	1	58	1	0	0	0	0	1	0	0	0	9457	1087	38	1	82	1	MCM5	22	35796511	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08		35796511	15508055	88	4641											
KDM6A	7403	broad.mit.edu	37	chrX	44969494	44969503	+	Splice_Site	DEL	AGTAAGTCAA	AGTAAGTCAA	-													gtctatgaccaatttacattAgtaagtcaaatcaacatgtg							TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	AGTAAGTCAA	AGTAAGTCAA	-	-	AGTAAGTCAA	AGTAAGTCAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:44969494_44969503delAGTAAGTCAA	ENST00000377967.4	+	28	4217	c.4176delAGTAAGTCAA	c.(4174-4176)tta>tt	p.L1392fs	KDM6A_ENST00000543216.1_Splice_Site_p.L1313fs|KDM6A_ENST00000536777.1_Splice_Site_p.L1347fs|KDM6A_ENST00000382899.4_Splice_Site_p.L1399fs|KDM6A_ENST00000479423.1_3'UTR	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1392					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AATTTACATTAGTAAGTCAAATCAACATGT	0.376			"D, N, F, S"		"renal, oesophageal SCC, MM"								False	1	False	X:44969494	0	-	44969503	AGTAAGTCAA	-	44969494	8	5	58	1	0	1	0	1	0	0	1	0	8187	434	15	0	4286	0	KDM6A	23	44969494	Splice_Site	DEL	AGTAAGTCAA	TCGA-HV-AA8X-01A-11D-A397-08		44969494	110301066	89	4642											
DLG3	1741	broad.mit.edu	37	chrX	69713266	69713266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagagtttccgcctctctcGaaagtttccattttacaaga	6	10	1	2			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:69713266G>A	ENST00000374355.3	+	7	1120	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	DLG3_ENST00000542398.1_Missense_Mutation_p.R122Q|DLG3_ENST00000374360.3_Intron|DLG3_ENST00000194900.4_Intron	NM_020730.2	NP_065781.1	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	592	PDZ 2.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CGCCTCTCTCGAAAGTTTCCA	0.448													False	0	True	X:69713266	0	A	69713266	G	A	69713266	3	1	58	1	0	0	0	0	1	0	0	0	4586	1058	37	1	2002	1	DLG3	23	69713266	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	24743772	69713266	85557294	90	4643											
BRWD3	254065	broad.mit.edu	37	chrX	79985487	79985487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatactgccaaattcttgccGttccatctcgacttccacta	5	14	2	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:79985487G>A	ENST00000373275.4	-	13	1376	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	387										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AATTCTTGCCGTTCCATCTCG	0.299													False	0	False	X:79985487	0	A	79985487	G	A	79985487	3	1	58	1	0	0	0	0	1	0	0	0	1533	1145	40	1	4364	1	BRWD3	23	79985487	Missense_Mutation	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	10272221	79985487	75285073	91	4644											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299404	125299404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggctgttggggttttcGccgccggtggccagaagcgt	17	11	0	1			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:125299404G>A	ENST00000538699.1	-	2	584	c.504C>T	c.(502-504)ggC>ggT	p.G168G	DCAF12L2_ENST00000360028.2_Silent_p.G168G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	168										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGGGTTTTCGCCGCCGGTGG	0.672													False	0	False	X:125299404	0	A	125299404	G	A	125299404	2	1	58	1	0	0	0	0	0	0	0	1	4290	1074	38	1		1	DCAF12L2	23	125299404	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	45313917	125299404	29971156	92	4645											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686253	125686253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgttacacttggtgccGcacaccacctgcctggagtt	11	13	0	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:125686253G>A	ENST00000371126.1	-	1	581	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	113										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACTTGGTGCCGCACACCACCT	0.637													False	0	False	X:125686253	0	A	125686253	G	A	125686253	2	1	58	1	0	0	0	0	0	0	0	1	4289	1079	38	1		1	DCAF12L1	23	125686253	Silent	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	386849	125686253	29584307	93	4646											
GDI1	2664	broad.mit.edu	37	chrX	153665646	153665646	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggggaccggtctcaccGtaagtgcggccccggcgccc	15	16	1	0			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:153665646G>A	ENST00000447750.2	+	1	380		c.e1+1			NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1						protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGTCTCACCGTAAGTGCGGC	0.697													False	0	False	X:153665646	0	A	153665646	G	A	153665646	5	1	58	1	0	0	0	0	0	0	1	0	6365	1159	40	1	48	1	GDI1	23	153665646	Splice_Site	SNP	G	TCGA-HV-AA8X-01A-11D-A397-08	27979393	153665646	1604914	94	4647											
CCDC27	148870	broad.mit.edu	37	chr1	3673402	3673402	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctcagtcgcatctcAgagctgcctgagaaagagga	12	11	2	3			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:3673402A>T	ENST00000294600.2	+	4	743	c.659A>T	c.(658-660)cAg>cTg	p.Q220L		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	220										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GTCGCATCTCAGAGCTGCCTG	0.572													False	0	False	1:3673402	0	T	3673402	A	T	3673402	3	4	59	1	0	0	0	0	1	0	0	0	2822	188	7	5	673	5	CCDC27	1	3673402	Missense_Mutation	SNP	A	TCGA-HZ-7919-01A-11D-2154-08		3673402	245577219	1	4648											
KIF1B	23095	broad.mit.edu	37	chr1	10425167	10425167	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcttgtcttaggtatgcagaGaaggagaagaaaaatcttag	11	4	3	3			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:10425167G>C	ENST00000377086.1	+	42	4578	c.4376G>C	c.(4375-4377)aGa>aCa	p.R1459T	KIF1B_ENST00000263934.6_Missense_Mutation_p.R1413T|KIF1B_ENST00000377081.1_Missense_Mutation_p.R1459T			O60333	KIF1B_HUMAN	kinesin family member 1B	1459					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGTATGCAGAGAAGGAGAAGA	0.393													False	0	True	1:10425167	0	C	10425167	G	C	10425167	3	2	59	1	0	0	0	0	1	0	0	0	8334	942	33	5	5881	5	KIF1B	1	10425167	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	6751765	10425167	238825454	2	4649			1	8		3	3	334	G		4.464099e-07
KIF1B	23095	broad.mit.edu	37	chr1	10425187	10425187	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gaaggagaagaaaaatcttaGatacgtcagtggcatatgtg	12	4	2	3			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:10425187G>C	ENST00000377086.1	+	42	4598	c.4396G>C	c.(4396-4398)Gat>Cat	p.D1466H	KIF1B_ENST00000263934.6_Missense_Mutation_p.D1420H|KIF1B_ENST00000377081.1_Missense_Mutation_p.D1466H			O60333	KIF1B_HUMAN	kinesin family member 1B	1466					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAAAATCTTAGATACGTCAGT	0.448													False	0	False	1:10425187	0	C	10425187	G	C	10425187	3	2	59	1	0	0	0	0	1	0	0	0	8334	942	33	5	5901	5	KIF1B	1	10425187	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	20	10425187	238825434	3	4650			1	8		3	3	334	G		4.464099e-07
KIF1B	23095	broad.mit.edu	37	chr1	10425500	10425500	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccactttttgctgctgcgtGagagacttggtgacagcatc	12	10	0	3			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:10425500G>A	ENST00000377086.1	+	43	4748	c.4546G>A	c.(4546-4548)Gag>Aag	p.E1516K	KIF1B_ENST00000263934.6_Missense_Mutation_p.E1470K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E1516K			O60333	KIF1B_HUMAN	kinesin family member 1B	1516					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCTGCTGCGTGAGAGACTTGG	0.507													False	0	True	1:10425500	0	A	10425500	G	A	10425500	3	1	59	1	0	0	0	0	1	0	0	0	8334	1291	45	2	6055	2	KIF1B	1	10425500	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	313	10425500	238825121	4	4651			1	8		3	3	334	G		4.464099e-07
ANGPTL7	10218	broad.mit.edu	37	chr1	11252354	11252354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacgactgctcttccctctAccagaagaactaccgcatct	5	16	3	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:11252354A>G	ENST00000376819.3	+	2	643	c.404A>G	c.(403-405)tAc>tGc	p.Y135C	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	135	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		TCTTCCCTCTACCAGAAGAAC	0.502													False	0	False	1:11252354	0	G	11252354	A	G	11252354	3	3	59	1	0	0	0	0	1	0	0	0	619	391	14	4	410	4	ANGPTL7	1	11252354	Missense_Mutation	SNP	A	TCGA-HZ-7919-01A-11D-2154-08	826854	11252354	237998267	5	4652											
PALMD	54873	broad.mit.edu	37	chr1	100111897	100111897	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagctgagctggtgaaGggaagactccaggccatcac	14	9	1	4			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:100111897G>C	ENST00000263174.4	+	1	399	c.24G>C	c.(22-24)aaG>aaC	p.K8N	PALMD_ENST00000605497.1_Missense_Mutation_p.K8N	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	8					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGCTGGTGAAGGGAAGACTCC	0.517													False	0	True	1:100111897	0	C	100111897	G	C	100111897	3	2	59	1	0	0	0	0	1	0	0	0	11479	991	35	5	26	5	PALMD	1	100111897	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	88859543	100111897	149138724	6	4653											
RSBN1	54665	broad.mit.edu	37	chr1	114340098	114340098	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtagtccaagaagtctgggaGataagcagccgctccatgca	12	10	1	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:114340098G>C	ENST00000261441.5	-	2	1327	c.1264C>G	c.(1264-1266)Ctc>Gtc	p.L422V		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	422						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTCTGGGAGATAAGCAGCC	0.393													False	0	False	1:114340098	0	C	114340098	G	C	114340098	3	2	59	1	0	0	0	0	1	0	0	0	13775	942	33	5	1168	5	RSBN1	1	114340098	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	14228201	114340098	134910523	7	4654											
LCE1E	353135	broad.mit.edu	37	chr1	152759802	152759802	+	Missense_Mutation	SNP	G	G	T													tgccagcagagccagcagcaGtgccagccccctcccaagtg							TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:152759802G>T	ENST00000368770.3	+	2	80	c.27G>T	c.(25-27)caG>caT	p.Q9H	LCE1E_ENST00000368771.1_Missense_Mutation_p.Q9H	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	9	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGCAGCAGTGCCAGCCCC	0.602													False	0	True	1:152759802	0	T	152759802	G	T	152759802	3	4	59	1	0	0	0	0	1	0	0	0	8714	1020	36	3	29	3	LCE1E	1	152759802	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	38419704	152759802	96490819	8	4655	44	2									
LCE1E	353135	broad.mit.edu	37	chr1	152759809	152759809	+	Missense_Mutation	SNP	C	C	T													agagccagcagcagtgccagCcccctcccaagtgcactccc							TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:152759809C>T	ENST00000368770.3	+	2	87	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	LCE1E_ENST00000368771.1_Missense_Mutation_p.P12S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	12	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTGCCAGCCCCctcccaa	0.602													False	0	True	1:152759809	0	T	152759809	C	T	152759809	3	4	59	1	0	0	0	0	1	0	0	0	8714	739	26	2	36	2	LCE1E	1	152759809	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	7	152759809	96490812	9	4656	44	2									
MUC1	4582	broad.mit.edu	37	chr1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatcgtgggctggcggggTggtggagcccagggctggcc	21	10	0	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000342482.4_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL								False	0	True	1:155161799	0	G	155161799	T	G	155161799	3	3	59	1	0	0	0	0	1	0	0	0	10037	1711	59	4		4	MUC1	1	155161799	Missense_Mutation	SNP	T	TCGA-HZ-7919-01A-11D-2154-08	2401990	155161799	94088822	10	4657											
RNPEP	6051	broad.mit.edu	37	chr1	201966564	201966564	+	Silent	SNP	C	C	T													tccttggcagatgtcatcatCcatgagatctcccacagttg							TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:201966564C>T	ENST00000295640.4	+	5	1015	c.972C>T	c.(970-972)atC>atT	p.I324I	RNPEP_ENST00000367286.3_Silent_p.I285I|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	324					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		ATGTCATCATCCATGAGATCT	0.547													False	0	False	1:201966564	0	T	201966564	C	T	201966564	2	4	59	1	0	0	0	0	0	0	0	1	13588	845	30	2		2	RNPEP	1	201966564	Silent	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	46804765	201966564	47284057	11	4658	45	2									
RNPEP	6051	broad.mit.edu	37	chr1	201966573	201966573	+	Silent	SNP	C	C	T													gatgtcatcatccatgagatCtcccacagttggtttgggaa							TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:201966573C>T	ENST00000295640.4	+	5	1024	c.981C>T	c.(979-981)atC>atT	p.I327I	RNPEP_ENST00000367286.3_Silent_p.I288I|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	327					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCCATGAGATCTCCCACAGTT	0.542													False	0	False	1:201966573	0	T	201966573	C	T	201966573	2	4	59	1	0	0	0	0	0	0	0	1	13588	903	32	2		2	RNPEP	1	201966573	Silent	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	9	201966573	47284048	12	4659	45	2									
BTG2	7832	broad.mit.edu	37	chr1	203276480	203276480	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaggccccactggccgccTcctgtgggctcctcacctgc	12	18	1	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:203276480T>G	ENST00000290551.4	+	2	462	c.391T>G	c.(391-393)Tcc>Gcc	p.S131A		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	131					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			ACTGGCCGCCTCCTGTGGGCT	0.652													False	0	False	1:203276480	0	G	203276480	T	G	203276480	3	3	59	1	0	0	0	0	1	0	0	0	1561	1551	54	4	397	4	BTG2	1	203276480	Missense_Mutation	SNP	T	TCGA-HZ-7919-01A-11D-2154-08	1309907	203276480	45974141	13	4660											
MARK1	4139	broad.mit.edu	37	chr1	220752846	220752846	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttacaaaaaacaatagggAagggaaattttgccaaagtc	9	5	0	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:220752846A>C	ENST00000366918.4	+	2	799	c.202A>C	c.(202-204)Aag>Cag	p.K68Q	MARK1_ENST00000366917.4_Missense_Mutation_p.K68Q|MARK1_ENST00000485104.1_3'UTR|MARK1_ENST00000402574.1_5'UTR			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	68	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AACAATAGGGAAGGGAAATTT	0.433													False	0	True	1:220752846	0	C	220752846	A	C	220752846	3	2	59	1	0	0	0	0	1	0	0	0	9379	247	9	4	208	4	MARK1	1	220752846	Missense_Mutation	SNP	A	TCGA-HZ-7919-01A-11D-2154-08	17476366	220752846	28497775	14	4661											
GREB1	9687	broad.mit.edu	37	chr2	11742547	11742547	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttagggagtggacttatatCatgaaaataagaagtacttc	9	4	1	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr2:11742547C>T	ENST00000381486.2	+	17	2845	c.2545C>T	c.(2545-2547)Cat>Tat	p.H849Y	GREB1_ENST00000234142.5_Missense_Mutation_p.H849Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	849						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGACTTATATCATGAAAATAA	0.507													False	0	False	2:11742547	0	T	11742547	C	T	11742547	3	4	59	1	0	0	0	0	1	0	0	0	6807	826	29	2	2715	2	GREB1	2	11742547	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08		11742547	231456826	15	4662											
PLEKHH2	130271	broad.mit.edu	37	chr2	43965587	43965587	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgacacatcctgagctgcaGaatgaaatttgctgtcagct	9	10	1	4			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr2:43965587G>C	ENST00000282406.4	+	20	3161	c.3051G>C	c.(3049-3051)caG>caC	p.Q1017H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1017	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGAGCTGCAGAATGAAATTT	0.393													False	0	False	2:43965587	0	C	43965587	G	C	43965587	3	2	59	1	0	0	0	0	1	0	0	0	12146	933	33	5	3125	5	PLEKHH2	2	43965587	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	32223040	43965587	199233786	16	4663											
ARHGAP15	55843	broad.mit.edu	37	chr2	143913143	143913143	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggagctgtgcaaatgagaatCaaaaatgccaacagccacca	9	10	1	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr2:143913143C>A	ENST00000409869.1	+	3	261	c.84C>A	c.(82-84)atC>atA	p.I28I	ARHGAP15_ENST00000295095.6_Silent_p.I28I			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	28					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAATGAGAATCAAAAATGCCA	0.448													False	0	True	2:143913143	0	A	143913143	C	A	143913143	2	1	59	1	0	0	0	0	0	0	0	1	868	816	29	3		3	ARHGAP15	2	143913143	Silent	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	99947556	143913143	99286230	17	4664											
HACL1	26061	broad.mit.edu	37	chr3	15613278	15613278	+	Splice_Site	DEL	T	T	-													tatcaagttcctctaaaagcTtaaaaaaaaaaaaacacaca							TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:15613278delT	ENST00000451445.2	-	9	871		c.e9-2		HACL1_ENST00000456194.2_Splice_Site|HACL1_ENST00000435217.2_Splice_Site|HACL1_ENST00000457447.2_Intron|HACL1_ENST00000321169.5_Splice_Site			Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1						fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTCTAAAAGCTTAAAAAAAAA	0.323													False	2	False	3:15613278	0	-	15613278	T	-	15613278	8	5	59	1	0	1	0	1	0	0	1	0	6988	1623	56	0	768	0	HACL1	3	15613278	Splice_Site	DEL	T	TCGA-HZ-7919-01A-11D-2154-08		15613278	182409152	18	4665											
ANKRD28	23243	broad.mit.edu	37	chr3	15718557	15718557	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tattaacaaggcactagtttCatgaccctataattgtggca	7	8	1	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:15718557C>T	ENST00000399451.2	-	26	3074	c.2707G>A	c.(2707-2709)Gaa>Aaa	p.E903K	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.E936K	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	903						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCACTAGTTTCATGACCCTAT	0.358													False	0	True	3:15718557	0	T	15718557	C	T	15718557	3	4	59	1	0	0	0	0	1	0	0	0	656	835	29	2	466	2	ANKRD28	3	15718557	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	105279	15718557	182303873	19	4666											
FBXO40	51725	broad.mit.edu	37	chr3	121345596	121345596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctgggagtttaatgaaGtcacctccatgtctgagcac	11	9	2	3			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:121345596G>A	ENST00000338040.4	+	4	2383	c.1969G>A	c.(1969-1971)Gtc>Atc	p.V657I		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	657					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTTTAATGAAGTCACCTCCAT	0.458													False	0	False	3:121345596	0	A	121345596	G	A	121345596	3	1	59	1	0	0	0	0	1	0	0	0	5789	1029	36	2	1979	2	FBXO40	3	121345596	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	105627039	121345596	76676834	20	4667											
ATP13A5	344905	broad.mit.edu	37	chr3	193081933	193081933	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtctgcttcttgcaagGggcatgggatgcagttggcc	15	9	2	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:193081933G>T	ENST00000342358.4	-	2	317	c.200C>A	c.(199-201)cCc>cAc	p.P67H		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	67					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCTTGCAAGGGGCATGGGAT	0.537													False	0	True	3:193081933	0	T	193081933	G	T	193081933	3	4	59	1	0	0	0	0	1	0	0	0	1131	1232	43	3	3570	3	ATP13A5	3	193081933	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	71736337	193081933	4940497	21	4668											
FBXO45	200933	broad.mit.edu	37	chr3	196311085	196311085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatgagttcctgggggttGcttttagaggacttccaaag	13	6	0	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:196311085G>A	ENST00000311630.6	+	3	1054	c.757G>A	c.(757-759)Gct>Act	p.A253T	FBXO45_ENST00000440469.1_Missense_Mutation_p.A74T	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	253	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCTGGGGGTTGCTTTTAGAGG	0.418													False	0	False	3:196311085	0	A	196311085	G	A	196311085	3	1	59	1	0	0	0	0	1	0	0	0	5794	1319	46	2	767	2	FBXO45	3	196311085	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	3229152	196311085	1711345	22	4669											
SLC2A9	56606	broad.mit.edu	37	chr4	9998478	9998478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggcgaatatggacacagTcacagaccagagcaaagtca	11	9	2	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:9998478T>C	ENST00000506583.1	-	5	467	c.250A>G	c.(250-252)Act>Gct	p.T84A	SLC2A9_ENST00000309065.3_Missense_Mutation_p.T84A|SLC2A9_ENST00000264784.3_Missense_Mutation_p.T113A			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	113					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATGGACACAGTCACAGACCAG	0.468													False	0	False	4:9998478	0	C	9998478	T	C	9998478	3	2	59	1	0	0	0	0	1	0	0	0	14632	1667	58	4	1325	4	SLC2A9	4	9998478	Missense_Mutation	SNP	T	TCGA-HZ-7919-01A-11D-2154-08		9998478	181155798	23	4670											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	59	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-HZ-7919-01A-11D-2154-08	30436227	40434705	150719571	24	4671											
YIPF7	285525	broad.mit.edu	37	chr4	44638040	44638040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaattgtcctgcgtaacccGatgacatgagcatctctgat	8	10	1	3			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:44638040G>A	ENST00000415895.4	-	3	254	c.179C>T	c.(178-180)tCg>tTg	p.S60L	YIPF7_ENST00000332990.5_Missense_Mutation_p.S84L			Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7							endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TGCGTAACCCGATGACATGAG	0.408													False	0	True	4:44638040	0	A	44638040	G	A	44638040	3	1	59	1	0	0	0	0	1	0	0	0	17567	1059	37	1	607	1	YIPF7	4	44638040	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	4203335	44638040	146516236	25	4672											
DMP1	1758	broad.mit.edu	37	chr4	88583249	88583249	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgataaagatgacgatgaaGatgacagtggagatgacacc	12	5	0	8			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:88583249G>T	ENST00000339673.6	+	6	418	c.319G>T	c.(319-321)Gat>Tat	p.D107Y	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D91Y|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	107					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TGACGATGAAGATGACAGTGG	0.507													False	0	False	4:88583249	0	T	88583249	G	T	88583249	3	4	59	1	0	0	0	0	1	0	0	0	4613	942	33	3	337	3	DMP1	4	88583249	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	43945209	88583249	102571027	26	4673											
TRIML1	339976	broad.mit.edu	37	chr4	189060986	189060986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcagagcgaggatgagCagggcagctacgggaggatg	19	7	0	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:189060986C>A	ENST00000332517.3	+	1	414	c.274C>A	c.(274-276)Cag>Aag	p.Q92K		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	92					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CGAGGATGAGCAGGGCAGCTA	0.647													False	0	False	4:189060986	0	A	189060986	C	A	189060986	3	1	59	1	0	0	0	0	1	0	0	0	16633	711	25	3	276	3	TRIML1	4	189060986	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	100477737	189060986	2093290	27	4674											
MAST4	375449	broad.mit.edu	37	chr5	66461307	66461307	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccacctggaattgagagtgaGaagagtgaaaagctctccag	12	8	1	4			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr5:66461307G>C	ENST00000404260.3	+	29	6617	c.6309G>C	c.(6307-6309)gaG>gaC	p.E2103D	MAST4_ENST00000403666.1_Missense_Mutation_p.E1911D|MAST4_ENST00000403625.2_Missense_Mutation_p.E2100D|MAST4_ENST00000261569.7_Missense_Mutation_p.E1906D|MAST4_ENST00000405643.1_Missense_Mutation_p.E1921D			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2103						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTGAGAGTGAGAAGAGTGAAA	0.562													False	0	False	5:66461307	0	C	66461307	G	C	66461307	3	2	59	1	0	0	0	0	1	0	0	0	9394	933	33	5	6544	5	MAST4	5	66461307	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08		66461307	114453953	28	4675											
PCDHGA6	0	broad.mit.edu	37	chr5	140754472	140754472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaggatgaaggagtccaCggggaagtaacttattcctt	12	8	0	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr5:140754472C>T	ENST00000517434.1	+	1	822	c.822C>T	c.(820-822)caC>caT	p.H274H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGAGTCCACGGGGAAGTAA	0.433													False	0	True	5:140754472	0	T	140754472	C	T	140754472	2	4	59	1	0	0	0	0	0	0	0	1	11626	535	19	1		1	PCDHGA6	5	140754472	Silent	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	74293165	140754472	40160788	29	4676											
C6orf195	154386	broad.mit.edu	37	chr6	2624100	2624100	+	Translation_Start_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acctgctactttcttatgttGattcttctatgtccattatg	5	9	3	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:2624100G>C	ENST00000296847.3	-	0	480					NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195											cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TTCTTATGTTGATTCTTCTAT	0.418													False	0	False	6:2624100	0	C	2624100	G	C	2624100	1	2	59	1	0	0	0	0	0	0	0	0	2367	1305	45	5		5	C6orf195	6	2624100	Translation_Start_Site	SNP	G	TCGA-HZ-7919-01A-11D-2154-08		2624100	168490967	30	4677											
DEK	7913	broad.mit.edu	37	chr6	18258216	18258216	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gttgtaaagcagtttgtgtaGatttctaagttcatcggttt	10	4	2	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:18258216G>C	ENST00000397239.3	-	4	772	c.325C>G	c.(325-327)Cta>Gta	p.L109V	DEK_ENST00000244776.7_Missense_Mutation_p.L75V	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	109					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			AGTTTGTGTAGATTTCTAAGT	0.333			T	NUP214	AML								False	0	False	6:18258216	0	C	18258216	G	C	18258216	3	2	59	1	0	0	0	0	1	0	0	0	4454	933	33	5	834	5	DEK	6	18258216	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	15634116	18258216	152856851	31	4678											
UBR2	23304	broad.mit.edu	37	chr6	42541728	42541728	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggagagcctacatattcttGcaggtaaaatattttaattt	7	5	1	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:42541728G>C	ENST00000372899.1	+	2	593	c.335G>C	c.(334-336)tGc>tCc	p.C112S	UBR2_ENST00000372903.2_Missense_Mutation_p.C112S|UBR2_ENST00000372901.1_Missense_Mutation_p.C112S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	112					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACATATTCTTGCAGGTAAAAT	0.328													False	0	False	6:42541728	0	C	42541728	G	C	42541728	3	2	59	1	0	0	0	0	1	0	0	0	16986	1319	46	5	341	5	UBR2	6	42541728	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	24283512	42541728	128573339	32	4679											
TAAR9	134860	broad.mit.edu	37	chr6	132859638	132859638	+	RNA	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cacacacctacaaactttctGattgcgtcgctggcctgtgc	8	14	1	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:132859638G>C	ENST00000434551.1	+	0	210					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		CAAACTTTCTGATTGCGTCGC	0.512													False	0	False	6:132859638	0	C	132859638	G	C	132859638	1	2	59	0	1	0	0	0	0	0	0	0	15576	1277	45	5		5	TAAR9	6	132859638	RNA	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	90317910	132859638	38255429	33	4680											
PKD1L1	168507	broad.mit.edu	37	chr7	47869028	47869028	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtaattttttttactttttCaacctcgcctgcacagtcag	6	10	2	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr7:47869028C>G	ENST00000289672.2	-	44	6780	c.6730G>C	c.(6730-6732)Gaa>Caa	p.E2244Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2244					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTTACTTTTTCAACCTCGCCT	0.408													False	0	True	7:47869028	0	G	47869028	C	G	47869028	3	3	59	1	0	0	0	0	1	0	0	0	12033	835	29	5	1875	5	PKD1L1	7	47869028	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08		47869028	111269635	34	4681											
ZNF789	285989	broad.mit.edu	37	chr7	99084963	99084963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggagaatgtgggaaaaCgtttagttttaagaggaatc	13	2	0	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr7:99084963C>T	ENST00000331410.5	+	5	1400	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGTGGGAAAACGTTTAGTTTT	0.403													False	0	True	7:99084963	0	T	99084963	C	T	99084963	3	4	59	1	0	0	0	0	1	0	0	0	18242	536	19	1	1186	1	ZNF789	7	99084963	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	51215935	99084963	60053700	35	4682											
FAM135B	51059	broad.mit.edu	37	chr8	139180258	139180258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaggtactccgagttccGgatatccagggacagctggc	14	10	0	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr8:139180258G>A	ENST00000395297.1	-	12	1308	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	380										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCGAGTTCCGGATATCCAGG	0.597										HNSCC(54;0.14)			False	0	False	8:139180258	0	A	139180258	G	A	139180258	3	1	59	1	0	0	0	0	1	0	0	0	5485	1115	39	1	3118	1	FAM135B	8	139180258	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08		139180258	7183764	36	4683											
SMU1	55234	broad.mit.edu	37	chr9	33068870	33068870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcaccacactgacttcGccagctaaggcctgggcaat	12	13	0	1	rs113018466	byFrequency	TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													False	0	False	9:33068870	0	A	33068870	G	A	33068870	2	1	59	1	0	0	0	0	0	0	0	1	14897	1074	38	1		1	SMU1	9	33068870	Silent	SNP	G	TCGA-HZ-7919-01A-11D-2154-08		33068870	108144561	37	4684											
SPTAN1	6709	broad.mit.edu	37	chr9	131386635	131386635	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccatgaggagaacatctcttCaaagatgaagggcctgaacg	11	9	2	5			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:131386635C>G	ENST00000372739.3	+	46	5971	c.5861C>G	c.(5860-5862)tCa>tGa	p.S1954*	SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.S1949*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.S1954*	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1949					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AACATCTCTTCAAAGATGAAG	0.527													False	0	True	9:131386635	0	G	131386635	C	G	131386635	4	3	59	1	0	0	0	0	0	1	0	0	15199	838	29	5	6039	5	SPTAN1	9	131386635	Nonsense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	98317765	131386635	9826796	38	4685											
ZER1	10444	broad.mit.edu	37	chr9	131513437	131513437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggttgcaacgctcgatGcgggcgatgtcaaaaagcaa	13	9	1	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:131513437G>A	ENST00000291900.2	-	7	1555	c.1149C>T	c.(1147-1149)cgC>cgT	p.R383R		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	383					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						AACGCTCGATGCGGGCGATGT	0.627													False	0	False	9:131513437	0	A	131513437	G	A	131513437	2	1	59	1	0	0	0	0	0	0	0	1	17708	1306	46	2		2	ZER1	9	131513437	Silent	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	126802	131513437	9699994	39	4686											
MRPS2	51116	broad.mit.edu	37	chr9	138393703	138393703	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gccgtagatttcaacgacaaGattttgaatgagcccctcaa	8	10	2	4			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:138393703G>C	ENST00000371785.1	+	4	392	c.183G>C	c.(181-183)aaG>aaC	p.K61N	MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.K61N			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	61					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TCAACGACAAGATTTTGAATG	0.572													False	0	False	9:138393703	0	C	138393703	G	C	138393703	3	2	59	1	0	0	0	0	1	0	0	0	9898	933	33	5	193	5	MRPS2	9	138393703	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	6880266	138393703	2819728	40	4687											
SORCS3	22986	broad.mit.edu	37	chr10	106924113	106924113	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggtgtgttcatctcctcCgatgggggcaacacatggag	13	9	2	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr10:106924113C>T	ENST00000369701.3	+	12	2012	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	595						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCATCTCCTCCGATGGGGGCA	0.433													False	0	False	10:106924113	0	T	106924113	C	T	106924113	2	4	59	1	0	0	0	0	0	0	0	1	15012	639	23	1		1	SORCS3	10	106924113	Silent	SNP	C	TCGA-HZ-7919-01A-11D-2154-08		106924113	28610634	41	4688											
INPP5F	22876	broad.mit.edu	37	chr10	121510593	121510593	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctattttattttagctactGatctacttcttgcctggaat	5	9	2	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr10:121510593G>A	ENST00000361976.2	+	2	269	c.103G>A	c.(103-105)Gat>Aat	p.D35N	INPP5F_ENST00000369083.3_Missense_Mutation_p.D35N	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	35							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTTAGCTACTGATCTACTTCT	0.328											OREG0020583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	10:121510593	0	A	121510593	G	A	121510593	3	1	59	1	0	0	0	0	1	0	0	0	7808	1290	45	2	109	2	INPP5F	10	121510593	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	14586480	121510593	14024154	42	4689											
MUC5B	727897	broad.mit.edu	37	chr11	1268340	1268340	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accaacccctcctcaactccAgggacaactcccatcccccc	3	23	1	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:1268340A>T	ENST00000447027.1	+	31	10297	c.10239A>T	c.(10237-10239)ccA>ccT	p.P3413P	MUC5B_ENST00000529681.1_Silent_p.P3410P|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3410	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cctcaactccagggacaactc	0.637													False	0	True	11:1268340	0	T	1268340	A	T	1268340	2	4	59	1	0	0	0	0	0	0	0	1	10046	175	7	5		5	MUC5B	11	1268340	Silent	SNP	A	TCGA-HZ-7919-01A-11D-2154-08		1268340	133738176	43	4690											
TCP11L1	55346	broad.mit.edu	37	chr11	33094069	33094069	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taccttgcctcgggtcatcaGaagccattgcccacagtccc	8	16	2	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:33094069G>A	ENST00000334274.4	+	10	1777	c.1377G>A	c.(1375-1377)caG>caA	p.Q459Q	TCP11L1_ENST00000324357.9_Silent_p.Q238Q|TCP11L1_ENST00000531632.2_Silent_p.Q459Q|TCP11L1_ENST00000432887.1_Silent_p.Q459Q	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	459										kidney(1)|liver(2)|lung(2)|skin(1)	6						CGGGTCATCAGAAGCCATTGC	0.463													False	0	False	11:33094069	0	A	33094069	G	A	33094069	2	1	59	1	0	0	0	0	0	0	0	1	15796	933	33	2		2	TCP11L1	11	33094069	Silent	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	31825729	33094069	101912447	44	4691											
OR5T3	390154	broad.mit.edu	37	chr11	56019769	56019769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttggatatatacaggaatCcactgaagaacaagactgaa	9	6	0	4			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:56019769C>T	ENST00000303059.3	+	1	94	c.94C>T	c.(94-96)Cca>Tca	p.P32S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATACAGGAATCCACTGAAGAA	0.358													False	0	False	11:56019769	0	T	56019769	C	T	56019769	3	4	59	1	0	0	0	0	1	0	0	0	11251	855	30	2	96	2	OR5T3	11	56019769	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	22925700	56019769	78986747	45	4692											
ZNF259	8882	broad.mit.edu	37	chr11	116652933	116652933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtccaggattggaactgtCgcccagtgtgaaaggatttt	12	8	0	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:116652933C>T	ENST00000227322.3	-	12	1179	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	374					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TTGGAACTGTCGCCCAGTGTG	0.458													False	0	False	11:116652933	0	T	116652933	C	T	116652933	3	4	59	1	0	0	0	0	1	0	0	0	17884	884	31	1	271	1	ZNF259	11	116652933	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	60633164	116652933	18353583	46	4693											
SIDT2	51092	broad.mit.edu	37	chr11	117058103	117058103	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctcattgcaggtcaccctcGagtcctggctgattcttttc	8	13	3	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:117058103G>C	ENST00000324225.4	+	11	1556	c.1025G>C	c.(1024-1026)cGa>cCa	p.R342P	SIDT2_ENST00000431081.2_Missense_Mutation_p.R346P	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	342						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGTCACCCTCGAGTCCTGGCT	0.522													False	0	False	11:117058103	0	C	117058103	G	C	117058103	3	2	59	1	0	0	0	0	1	0	0	0	14384	1058	37	5	1067	5	SIDT2	11	117058103	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	405170	117058103	17948413	47	4694											
ESAM	90952	broad.mit.edu	37	chr11	124626110	124626110	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgtcctcacctaatgcTggtgcaaagaaagtctggaa	11	8	2	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:124626110T>C	ENST00000278927.5	-	4	729	c.600A>G	c.(598-600)ccA>ccG	p.P200P	ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	200	Ig-like C2-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CACCTAATGCTGGTGCAAAGA	0.562													False	0	False	11:124626110	0	C	124626110	T	C	124626110	2	2	59	1	0	0	0	0	0	0	0	1	5279	1567	55	4		4	ESAM	11	124626110	Silent	SNP	T	TCGA-HZ-7919-01A-11D-2154-08	7568007	124626110	10380406	48	4695											
KCNA5	3741	broad.mit.edu	37	chr12	5155075	5155075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccctagagaagtgtaacGtcaaggccaagagcaacgtg	12	11	1	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:5155075G>A	ENST00000252321.3	+	1	1991	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	588						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GAAGTGTAACGTCAAGGCCAA	0.592													False	0	False	12:5155075	0	A	5155075	G	A	5155075	3	1	59	1	0	0	0	0	1	0	0	0	8056	1145	40	1	1764	1	KCNA5	12	5155075	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08		5155075	128696820	49	4696											
CD163L1	283316	broad.mit.edu	37	chr12	7531847	7531847	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcacctcaacttttccagCacacctgctgcttccaccca	3	18	2	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:7531847C>A	ENST00000313599.3	-	9	2155	c.2098G>T	c.(2098-2100)Gct>Tct	p.A700S	CD163L1_ENST00000396630.1_Missense_Mutation_p.A700S|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.A710S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	700	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACTTTTCCAGCACACCTGCTG	0.463													False	0	False	12:7531847	0	A	7531847	C	A	7531847	3	1	59	1	0	0	0	0	1	0	0	0	2991	710	25	3	2307	3	CD163L1	12	7531847	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	2376772	7531847	126320048	50	4697											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	59	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	17866438	25398285	108453610	51	4698											
KRT4	3851	broad.mit.edu	37	chr12	53202606	53202606	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaaggaccacggacgtgtcgCtgacatgggtctgcatctgg	14	10	2	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:53202606C>G	ENST00000551956.1	-	5	1355	c.863G>C	c.(862-864)aGc>aCc	p.S288T	KRT4_ENST00000458244.2_Missense_Mutation_p.S268T|KRT4_ENST00000293774.4_Missense_Mutation_p.S362T			B4DRS2	B4DRS2_HUMAN	keratin 4	288						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGACGTGTCGCTGACATGGGT	0.577													False	0	False	12:53202606	0	G	53202606	C	G	53202606	3	3	59	1	0	0	0	0	1	0	0	0	8527	797	28	5	719	5	KRT4	12	53202606	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	27804321	53202606	80649289	52	4699											
PRIM1	5557	broad.mit.edu	37	chr12	57144844	57144844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagaatatactgcgcctAtatcaatcttgtatggattc	8	7	2	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:57144844A>G	ENST00000338193.6	-	2	275	c.239T>C	c.(238-240)aTa>aCa	p.I80T	PRIM1_ENST00000552408.1_5'UTR	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	80					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						TACTGCGCCTATATCAATCTT	0.328													False	0	False	12:57144844	0	G	57144844	A	G	57144844	3	3	59	1	0	0	0	0	1	0	0	0	12566	449	16	4	1071	4	PRIM1	12	57144844	Missense_Mutation	SNP	A	TCGA-HZ-7919-01A-11D-2154-08	3942238	57144844	76707051	53	4700											
GPR12	0	broad.mit.edu	37	chr13	27333003	27333003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgggcgagactggacGggatgcagccgcagcaaatg	15	11	1	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr13:27333003G>A	ENST00000405846.3	-	2	1183	c.962C>T	c.(961-963)cCg>cTg	p.P321L	GPR12_ENST00000381436.2_Missense_Mutation_p.P321L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	321						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GAGACTGGACGGGATGCAGCC	0.557													False	0	True	13:27333003	0	A	27333003	G	A	27333003	3	1	59	1	0	0	0	0	1	0	0	0	6681	1116	39	1	46	1	GPR12	13	27333003	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08		27333003	87836875	54	4701											
MDGA2	161357	broad.mit.edu	37	chr14	47504469	47504469	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtctccttctctggtgaccaAtggtgatttttcctgtggaa	10	9	2	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr14:47504469A>T	ENST00000426342.1	-	8	1416	c.670T>A	c.(670-672)Ttg>Atg	p.L224M	MDGA2_ENST00000439988.3_Missense_Mutation_p.L522M|MDGA2_ENST00000357362.3_Missense_Mutation_p.L224M|MDGA2_ENST00000399232.2_Missense_Mutation_p.L453M	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	453	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTGGTGACCAATGGTGATTTT	0.378													False	0	False	14:47504469	0	T	47504469	A	T	47504469	3	4	59	1	0	0	0	0	1	0	0	0	9474	98	4	5	1553	5	MDGA2	14	47504469	Missense_Mutation	SNP	A	TCGA-HZ-7919-01A-11D-2154-08		47504469	59845071	55	4702											
TTLL5	23093	broad.mit.edu	37	chr14	76330128	76330128	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcaggcagctatcagcttCaatttgccctgcagcaactt	8	13	2	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr14:76330128C>T	ENST00000298832.9	+	29	3650	c.3445C>T	c.(3445-3447)Caa>Taa	p.Q1149*	TTLL5_ENST00000557636.1_Nonsense_Mutation_p.Q1164*|TTLL5_ENST00000554510.1_Nonsense_Mutation_p.Q658*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.Q700*	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1149					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTATCAGCTTCAATTTGCCCT	0.522													False	0	False	14:76330128	0	T	76330128	C	T	76330128	4	4	59	1	0	0	0	0	0	1	0	0	16814	827	29	2	3555	2	TTLL5	14	76330128	Nonsense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	28825659	76330128	31019412	56	4703											
DUOXA2	405753	broad.mit.edu	37	chr15	45406819	45406819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcatgaccctgtggaacGgcgtactgcctttttacccc	10	14	0	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:45406819G>A	ENST00000323030.5	+	1	301	c.16G>A	c.(16-18)Ggc>Agc	p.G6S		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	6					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CCTGTGGAACGGCGTACTGCC	0.632													False	0	False	15:45406819	0	A	45406819	G	A	45406819	3	1	59	1	0	0	0	0	1	0	0	0	4833	1116	39	1	18	1	DUOXA2	15	45406819	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08		45406819	57124573	57	4704											
GLCE	26035	broad.mit.edu	37	chr15	69553486	69553486	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatccaatccagattgcacAgtatggattaagtcattaca	6	9	1	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:69553486A>C	ENST00000261858.2	+	4	875	c.647A>C	c.(646-648)cAg>cCg	p.Q216P	GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Missense_Mutation_p.Q152P	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	216					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CAGATTGCACAGTATGGATTA	0.373													False	0	False	15:69553486	0	C	69553486	A	C	69553486	3	2	59	1	0	0	0	0	1	0	0	0	6477	188	7	4	653	4	GLCE	15	69553486	Missense_Mutation	SNP	A	TCGA-HZ-7919-01A-11D-2154-08	24146667	69553486	32977906	58	4705											
THSD4	79875	broad.mit.edu	37	chr15	71704038	71704038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggtagtaaaaggcaatcGcaaatgtgagttgaactgcc	11	6	0	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:71704038G>A	ENST00000355327.3	+	7	1162	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	THSD4_ENST00000261862.6_Missense_Mutation_p.R343H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	343						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAAGGCAATCGCAAATGTGAG	0.423													False	0	False	15:71704038	0	A	71704038	G	A	71704038	3	1	59	1	0	0	0	0	1	0	0	0	15960	1087	38	1	1050	1	THSD4	15	71704038	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	2150552	71704038	30827354	59	4706											
ARIH1	25820	broad.mit.edu	37	chr15	72858942	72858942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcatgatcctgttaaatGtaaggtgagtttgtctgaca	11	5	1	3			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:72858942G>A	ENST00000379887.4	+	8	1264	c.950G>A	c.(949-951)tGt>tAt	p.C317Y		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	317					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						CCTGTTAAATGTAAGGTGAGT	0.318													False	0	False	15:72858942	0	A	72858942	G	A	72858942	3	1	59	1	0	0	0	0	1	0	0	0	925	1377	48	2	980	2	ARIH1	15	72858942	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	1154904	72858942	29672450	60	4707											
BNC1	646	broad.mit.edu	37	chr15	83926674	83926674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctggcactgtggacttgCgttattgggtaaaccagact	13	8	0	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:83926674C>T	ENST00000345382.2	-	5	2590	c.2505G>A	c.(2503-2505)acG>acA	p.T835T	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.T828T	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	835					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGTGGACTTGCGTTATTGGGT	0.517													False	0	False	15:83926674	0	T	83926674	C	T	83926674	2	4	59	1	0	0	0	0	0	0	0	1	1479	755	27	1		1	BNC1	15	83926674	Silent	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	11067732	83926674	18604718	61	4708											
AKAP13	11214	broad.mit.edu	37	chr15	86212982	86212982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatctaagcagcagggattTaattactgtacatcagccat	8	8	2	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:86212982T>C	ENST00000394518.2	+	14	5117	c.5022T>C	c.(5020-5022)ttT>ttC	p.F1674F	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.F1678F|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1674					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGCAGGGATTTAATTACTGTA	0.348													False	0	True	15:86212982	0	C	86212982	T	C	86212982	2	2	59	1	0	0	0	0	0	0	0	1	449	1751	61	4		4	AKAP13	15	86212982	Silent	SNP	T	TCGA-HZ-7919-01A-11D-2154-08	2286308	86212982	16318410	62	4709											
SRRM2	23524	broad.mit.edu	37	chr16	2813635	2813636	+	Frame_Shift_Del	DEL	TG	TG	-													gccctggatccctctctctcTgtgcaggagtaaaatctagc					rs72768765	byFrequency	TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:2813635_2813636delTG	ENST00000301740.8	+	11	3655_3656	c.3106_3107delTG	c.(3106-3108)tgtfs	p.C1036fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1036	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTCTCTCTCTGTGCAGGAGTA	0.48													False	2	True	16:2813635	0	-	2813636	TG	-	2813635	7	5	59	1	0	1	0	1	0	0	0	0	15251	1580	55	0	3144	0	SRRM2	16	2813635	Frame_Shift_Del	DEL	TG	TCGA-HZ-7919-01A-11D-2154-08		2813635	87541118	63	4710											
ZNF174	7727	broad.mit.edu	37	chr16	3452365	3452365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggagattgtgaccctcGtggaagattttcacagagca	12	8	1	4			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:3452365G>A	ENST00000268655.4	+	1	946	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	ZNF174_ENST00000571936.1_Missense_Mutation_p.V121M|ZNF174_ENST00000575752.1_Missense_Mutation_p.V121M|ZNF174_ENST00000344823.5_Missense_Mutation_p.V121M|ZNF174_ENST00000572544.1_Missense_Mutation_p.V121M	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	121	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TGTGACCCTCGTGGAAGATTT	0.498													False	0	False	16:3452365	0	A	3452365	G	A	3452365	3	1	59	1	0	0	0	0	1	0	0	0	17827	1145	40	1	363	1	ZNF174	16	3452365	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	638730	3452365	86902388	64	4711											
ITGAL	0	broad.mit.edu	37	chr16	30505643	30505643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccaagagccacagggcGgaggacactggagccaggtc	15	11	0	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:30505643G>A	ENST00000356798.6	+	12	1504	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.G359R|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	442					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCCACAGGGCGGAGGACACTG	0.647													False	0	False	16:30505643	0	A	30505643	G	A	30505643	3	1	59	1	0	0	0	0	1	0	0	0	7936	1117	39	1	1370	1	ITGAL	16	30505643	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	27053278	30505643	59849110	65	4712											
CDH11	1009	broad.mit.edu	37	chr16	64981819	64981819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaggtttgatgtctttgCgggggataaatccattgata	11	6	2	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:64981819C>T	ENST00000268603.4	-	13	2693	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	CDH11_ENST00000566827.1_Missense_Mutation_p.R567H|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	693					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GATGTCTTTGCGGGGGATAAA	0.488			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			False	0	True	16:64981819	0	T	64981819	C	T	64981819	3	4	59	1	0	0	0	0	1	0	0	0	3120	768	27	1	316	1	CDH11	16	64981819	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	34476176	64981819	25372934	66	4713											
ST3GAL2	6483	broad.mit.edu	37	chr16	70415640	70415640	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctggccttggccagcatgtcGatgatgtgggcctcgaagtc	14	11	0	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:70415640G>C	ENST00000393640.4	-	6	3112	c.1005C>G	c.(1003-1005)atC>atG	p.I335M	ST3GAL2_ENST00000342907.2_Missense_Mutation_p.I335M|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	335					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CCAGCATGTCGATGATGTGGG	0.667													False	0	False	16:70415640	0	C	70415640	G	C	70415640	3	2	59	1	0	0	0	0	1	0	0	0	15297	1048	37	5	51	5	ST3GAL2	16	70415640	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	5433821	70415640	19939113	67	4714											
MBTPS1	8720	broad.mit.edu	37	chr16	84120998	84120998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaagaaaagcgggcgaTgttatcttcaaagtcaatgc	10	8	3	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:84120998T>C	ENST00000343411.3	-	9	1594	c.1099A>G	c.(1099-1101)Atc>Gtc	p.I367V	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	367	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGCGGGCGATGTTATCTTCA	0.408													False	0	False	16:84120998	0	C	84120998	T	C	84120998	3	2	59	1	0	0	0	0	1	0	0	0	9428	1464	51	4	2119	4	MBTPS1	16	84120998	Missense_Mutation	SNP	T	TCGA-HZ-7919-01A-11D-2154-08	13705358	84120998	6233755	68	4715											
FANCA	2175	broad.mit.edu	37	chr16	89838200	89838200	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccctcagtctttcagaaatCactgccacctgtgccgatat	7	14	4	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:89838200C>T	ENST00000389301.3	-	23	2067	c.2037G>A	c.(2035-2037)gtG>gtA	p.V679V	FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Silent_p.V679V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	679					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTTCAGAAATCACTGCCACCT	0.527			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	16:89838200	0	T	89838200	C	T	89838200	2	4	59	1	0	0	0	0	0	0	0	1	5702	813	29	2		2	FANCA	16	89838200	Silent	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	5717202	89838200	516553	69	4716											
ALDH3A2	224	broad.mit.edu	37	chr17	19575061	19575061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggatgggagcttatcacgGaaaacatagttttgatactt	11	5	1	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr17:19575061G>T	ENST00000176643.6	+	9	1681	c.1235G>T	c.(1234-1236)gGa>gTa	p.G412V	ALDH3A2_ENST00000395575.2_Missense_Mutation_p.G412V|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.G412V|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.G412V|ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.G412V			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	412			G -> R (in SLS).		cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	GCTTATCACGGAAAACATAGT	0.413													False	0	True	17:19575061	0	T	19575061	G	T	19575061	3	4	59	1	0	0	0	0	1	0	0	0	498	1174	41	3	1269	3	ALDH3A2	17	19575061	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08		19575061	61620149	70	4717											
MXRA7	439921	broad.mit.edu	37	chr17	74681156	74681156	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaaggggctgcagcctacctCtgctcctcctccagctcctc	9	18	1	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr17:74681156C>G	ENST00000355797.3	-	3	506	c.498G>C	c.(496-498)caG>caC	p.Q166H	MXRA7_ENST00000589082.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000585519.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000592148.1_Missense_Mutation_p.Q209H|MXRA7_ENST00000375036.2_Missense_Mutation_p.Q166H|MXRA7_ENST00000588114.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000449428.2_Missense_Mutation_p.Q166H	NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	166						integral to membrane				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CAGCCTACCTCTGCTCCTCCT	0.622													False	0	False	17:74681156	0	G	74681156	C	G	74681156	3	3	59	1	0	0	0	0	1	0	0	0	10071	912	32	5	179	5	MXRA7	17	74681156	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	55106095	74681156	6514054	71	4718											
RBBP8	5932	broad.mit.edu	37	chr18	20516852	20516852	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cagctgtggaagccctaactCtgcagatacatctagtgact	9	11	2	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr18:20516852C>G	ENST00000399722.2	+	2	389	c.38C>G	c.(37-39)tCt>tGt	p.S13C	RBBP8_ENST00000399725.2_Missense_Mutation_p.S13C|RBBP8_ENST00000327155.5_Missense_Mutation_p.S13C|RBBP8_ENST00000360790.5_Missense_Mutation_p.S13C	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	13					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGCCCTAACTCTGCAGATACA	0.358								Homologous recombination					False	0	False	18:20516852	0	G	20516852	C	G	20516852	3	3	59	1	0	0	0	0	1	0	0	0	13184	913	32	5	40	5	RBBP8	18	20516852	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08		20516852	57560396	72	4719											
FHOD3	80206	broad.mit.edu	37	chr18	34289290	34289290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctctgcctccagcgtctcGtcctccagcagcacgttgga	10	16	2	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr18:34289290G>A	ENST00000257209.4	+	15	2066	c.1944G>A	c.(1942-1944)tcG>tcA	p.S648S	FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000359247.4_Silent_p.S631S|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Silent_p.S823S|FHOD3_ENST00000445677.1_Silent_p.S610S	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	631					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCAGCGTCTCGTCCTCCAGCA	0.567													False	0	False	18:34289290	0	A	34289290	G	A	34289290	2	1	59	1	0	0	0	0	0	0	0	1	5923	1132	40	1		1	FHOD3	18	34289290	Silent	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	13772438	34289290	43787958	73	4720											
SMAD4	4089	broad.mit.edu	37	chr18	48604787	48604787	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accgggccctccagctcctaGacgaagtacttcataccatg	8	15	1	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr18:48604787G>C	ENST00000342988.3	+	12	2147	c.1609G>C	c.(1609-1611)Gac>Cac	p.D537H	SMAD4_ENST00000398417.2_Missense_Mutation_p.D537H|SMAD4_ENST00000588745.1_Missense_Mutation_p.D441H|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	537	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.D537Y(3)|p.?(2)|p.L536fs*11(1)|p.L536fs*14(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCAGCTCCTAGACGAAGTACT	0.488													False	0	False	18:48604787	0	C	48604787	G	C	48604787	3	2	59	1	0	0	0	0	1	0	0	0	14840	942	33	5	1651	5	SMAD4	18	48604787	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	14315497	48604787	29472461	74	4721											
SH3GL1	6455	broad.mit.edu	37	chr19	4364084	4364084	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctggcgcaggagcagcaCctggatctccttcaggtctt	13	12	3	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr19:4364084C>T	ENST00000269886.3	-	5	644		c.e5+1		SH3GL1_ENST00000598564.1_Splice_Site|SH3GL1_ENST00000417295.2_Splice_Site|AC007292.6_ENST00000594444.1_RNA	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1						central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AGGAGCAGCACCTGGATCTCC	0.647			T	MLL	AL								False	0	False	19:4364084	0	T	4364084	C	T	4364084	5	4	59	1	0	0	0	0	0	0	1	0	14331	521	18	2	664	2	SH3GL1	19	4364084	Splice_Site	SNP	C	TCGA-HZ-7919-01A-11D-2154-08		4364084	54764899	75	4722											
LMTK3	114783	broad.mit.edu	37	chr19	49000674	49000674	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatctgctcgctgttcccctGagggggtcccaagtccaaga	12	13	1	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr19:49000674G>A	ENST00000600059.1	-	11	3879	c.3652C>T	c.(3652-3654)Cag>Tag	p.Q1218*	LMTK3_ENST00000270238.3_Nonsense_Mutation_p.Q1247*					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTGTTCCCCTGAGGGGGTCCC	0.662													False	0	False	19:49000674	0	A	49000674	G	A	49000674	4	1	59	1	0	0	0	0	0	1	0	0	8913	1299	45	2	750	2	LMTK3	19	49000674	Nonsense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	44636590	49000674	10128309	76	4723											
SPHK2	56848	broad.mit.edu	37	chr19	49129495	49129495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggcgcggggcccggcgCagagccactcgcaccttccg	16	18	0	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr19:49129495C>T	ENST00000443164.1	+	1	1278	c.573C>T	c.(571-573)cgC>cgT	p.R191R	SPHK2_ENST00000245222.4_Silent_p.R129R|SPHK2_ENST00000599033.1_3'UTR|SPHK2_ENST00000599029.1_Silent_p.R93R|SPHK2_ENST00000598088.1_Silent_p.R129R|SPHK2_ENST00000599748.1_Silent_p.R93R|SPHK2_ENST00000601712.1_Silent_p.R93R|SPHK2_ENST00000600537.1_Silent_p.R70R|SPHK2_ENST00000340932.3_Silent_p.R93R			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	129	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		gggcccggcgcAGAGCCACTC	0.701													False	0	False	19:49129495	0	T	49129495	C	T	49129495	2	4	59	1	0	0	0	0	0	0	0	1	15129	697	25	2		2	SPHK2	19	49129495	Silent	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	128821	49129495	9999488	77	4724											
RIN2	54453	broad.mit.edu	37	chr20	19981313	19981313	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggttgcacaggaaagaccctCcttgtgagaccttacatcac	9	12	1	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr20:19981313C>G	ENST00000255006.6	+	12	2717	c.2568C>G	c.(2566-2568)ctC>ctG	p.L856L	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Silent_p.L374L	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	807	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GAAAGACCCTCCTTGTGAGAC	0.498													False	0	False	20:19981313	0	G	19981313	C	G	19981313	2	3	59	1	0	0	0	0	0	0	0	1	13451	842	30	5		5	RIN2	20	19981313	Silent	SNP	C	TCGA-HZ-7919-01A-11D-2154-08		19981313	43044207	78	4725											
TOX2	84969	broad.mit.edu	37	chr20	42694633	42694633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccctcacgcccagggCgccctcctcagtccacctgt	8	22	2	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr20:42694633C>T	ENST00000358131.5	+	6	1396	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G	TOX2_ENST00000423191.2_Silent_p.G372G|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Silent_p.G414G|TOX2_ENST00000372999.1_Silent_p.G372G	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	396	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ACGCCCAGGGCGCCCTCCTCA	0.711													False	0	True	20:42694633	0	T	42694633	C	T	42694633	2	4	59	1	0	0	0	0	0	0	0	1	16461	755	27	1		1	TOX2	20	42694633	Silent	SNP	C	TCGA-HZ-7919-01A-11D-2154-08	22713320	42694633	20330887	79	4726											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-													atgcagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55													False	1	True	20:46279833	0	-	46279834	GC	-	46279833	7	5	59	1	0	1	0	1	0	0	0	0	10298	962	34	0	3859	0	NCOA3	20	46279833	Frame_Shift_Del	DEL	GC	TCGA-HZ-7919-01A-11D-2154-08	3585200	46279833	16745687	80	4727											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971155	45971155	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgattggcaggcgctgggctCacaggccgcctggcagcagg	17	12	1	1			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr21:45971155C>T	ENST00000391621.1	-	1	233	c.187G>A	c.(187-189)Gag>Aag	p.E63K	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	63	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GCGCTGGGCTCACAGGCCGCC	0.711													False	0	False	21:45971155	0	T	45971155	C	T	45971155	3	4	59	1	0	0	0	0	1	0	0	0	8559	835	29	2	584	2	KRTAP10-2	21	45971155	Missense_Mutation	SNP	C	TCGA-HZ-7919-01A-11D-2154-08		45971155	2158740	81	4728											
COL6A2	0	broad.mit.edu	37	chr21	47545202	47545202	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgacgtcatgacctacgTgagggagacctgcgggtgct	16	9	1	4			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr21:47545202T>A	ENST00000300527.4	+	24	1897	c.1793T>A	c.(1792-1794)gTg>gAg	p.V598E	COL6A2_ENST00000409416.1_Missense_Mutation_p.V598E|COL6A2_ENST00000397763.1_Missense_Mutation_p.V598E|COL6A2_ENST00000357838.4_Missense_Mutation_p.V598E|COL6A2_ENST00000310645.5_Missense_Mutation_p.V598E	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	598	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ATGACCTACGTGAGGGAGACC	0.687													False	0	False	21:47545202	0	A	47545202	T	A	47545202	3	1	59	1	0	0	0	0	1	0	0	0	3723	1696	59	5	1883	5	COL6A2	21	47545202	Missense_Mutation	SNP	T	TCGA-HZ-7919-01A-11D-2154-08	1574047	47545202	584693	82	4729											
SLC5A1	6523	broad.mit.edu	37	chr22	32464533	32464533	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cggtttggaggccagcggatCcaggtctacctttcccttct	11	13	2	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr22:32464533C>A	ENST00000266088.4	+	5	673	c.423C>A	c.(421-423)atC>atA	p.I141I	SLC5A1_ENST00000543737.1_Silent_p.I14I	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	141					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GCCAGCGGATCCAGGTCTACC	0.602													False	0	False	22:32464533	0	A	32464533	C	A	32464533	2	1	59	1	0	0	0	0	0	0	0	1	14741	845	30	3		3	SLC5A1	22	32464533	Silent	SNP	C	TCGA-HZ-7919-01A-11D-2154-08		32464533	18840033	83	4730											
ENTHD1	150350	broad.mit.edu	37	chr22	40257992	40257992	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgtgatgacttgcttagAtttttcccggatataataac	7	7	0	3			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr22:40257992A>C	ENST00000325157.6	-	3	620	c.370T>G	c.(370-372)Tct>Gct	p.S124A		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	124	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ACTTGCTTAGATTTTTCCCGG	0.353													False	0	True	22:40257992	0	C	40257992	A	C	40257992	3	2	59	1	0	0	0	0	1	0	0	0	5169	333	12	4	1473	4	ENTHD1	22	40257992	Missense_Mutation	SNP	A	TCGA-HZ-7919-01A-11D-2154-08	7793459	40257992	11046574	84	4731											
SLC25A6	293	broad.mit.edu	37	chrX	1508186	1508186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggtagatgatgatgccCtgcacggagacactgaagcc	13	12	0	5			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:1508186C>T	ENST00000381401.5	-	2	1260	c.546G>A	c.(544-546)caG>caA	p.Q182Q	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	182					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TGATGATGCCCTGCACGGAGA	0.627													False	0	True	X:1508186	0	T	1508186	C	T	1508186	2	4	59	1	0	0	0	0	0	0	0	1	14593	680	24	2		2	SLC25A6	23	1508186	Silent	SNP	C	TCGA-HZ-7919-01A-11D-2154-08		1508186	153762374	85	4732											
DCAF8L2	347442	broad.mit.edu	37	chrX	27766766	27766766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctttggttcctcctgcGtcacgtgacgcagagaggtc	12	12	1	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:27766766G>A	ENST00000451261.2	+	5	2153	c.1754G>A	c.(1753-1755)cGt>cAt	p.R585H		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TTCCTCCTGCGTCACGTGACG	0.493													False	0	False	X:27766766	0	A	27766766	G	A	27766766	3	1	59	1	0	0	0	0	1	0	0	0	4303	1145	40	1	1756	1	DCAF8L2	23	27766766	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	26258580	27766766	127503794	86	4733											
DGKK	139189	broad.mit.edu	37	chrX	50213545	50213556	+	RNA	DEL	GCGGCGGAGCCG	GCGGCGGAGCCG	-													tggcgaagcctcggagagcaGcggcggagccggcggcggag							TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	GCGGCGGAGCCG	GCGGCGGAGCCG	-	-	GCGGCGGAGCCG	GCGGCGGAGCCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:50213545_50213556delGCGGCGGAGCCG	ENST00000376025.2	-	0	181_192							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGGAGAgcagcggcggagccggcggcggagc	0.693													False	1	False	X:50213545	0	-	50213556	GCGGCGGAGCCG	-	50213545	6	5	59	0	1	1	0	1	0	0	0	0	4502	962	34	0		0	DGKK	23	50213545	RNA	DEL	GCGGCGGAGCCG	TCGA-HZ-7919-01A-11D-2154-08	22446779	50213545	105057015	87	4734											
BRWD3	254065	broad.mit.edu	37	chrX	79985487	79985487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatactgccaaattcttgccGttccatctcgacttccacta	5	14	2	0			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:79985487G>A	ENST00000373275.4	-	13	1376	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	387										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AATTCTTGCCGTTCCATCTCG	0.299													False	0	False	X:79985487	0	A	79985487	G	A	79985487	3	1	59	1	0	0	0	0	1	0	0	0	1533	1145	40	1	4364	1	BRWD3	23	79985487	Missense_Mutation	SNP	G	TCGA-HZ-7919-01A-11D-2154-08	29771942	79985487	75285073	88	4735											
RBMX	27316	broad.mit.edu	37	chrX	135958816	135958817	+	Splice_Site	DEL	TG	TG	-													atggaatatccaccgtcatcTgcatcaaaaatagaaaagaa							TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:135958816_135958817delTG	ENST00000562646.1	-	5	543		c.e5-2		RBMX_ENST00000570135.1_Splice_Site|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Splice_Site|RBMX_ENST00000320676.7_Splice_Site			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked							catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCGTCATCTGCATCAAAAAT	0.396													False	1	False	X:135958816	0	-	135958817	TG	-	135958816	8	5	59	1	0	1	0	1	0	0	1	0	13230	1594	55	0	863	0	RBMX	23	135958816	Splice_Site	DEL	TG	TCGA-HZ-7919-01A-11D-2154-08	55973329	135958816	19311744	89	4736											
FLNA	0	broad.mit.edu	37	chrX	153583275	153583275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggctggggggccgtgTagaagatgtcgaaagtgccg	18	9	0	2			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:153583275T>C	ENST00000422373.1	-	30	5359	c.5111A>G	c.(5110-5112)tAc>tGc	p.Y1704C	FLNA_ENST00000369850.3_Missense_Mutation_p.Y1712C|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Missense_Mutation_p.Y1704C|FLNA_ENST00000344736.4_Missense_Mutation_p.Y1704C	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1712					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGGGCCGTGTAGAAGATGTC	0.617											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	X:153583275	0	C	153583275	T	C	153583275	3	2	59	1	0	0	0	0	1	0	0	0	5973	1638	57	4	2880	4	FLNA	23	153583275	Missense_Mutation	SNP	T	TCGA-HZ-7919-01A-11D-2154-08	17624459	153583275	1687285	90	4737											
C1orf173	127254	broad.mit.edu	37	chr1	75037471	75037471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagttcctgtcctgcatcGcttctgtctccagagtgcac	9	15	2	1	rs138615520		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:75037471G>A	ENST00000326665.5	-	14	4141	c.3923C>T	c.(3922-3924)gCg>gTg	p.A1308V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1308	Glu-rich.							p.A1308V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTCCTGCATCGCTTCTGTCTC	0.542													False	0	False	1:75037471	0	A	75037471	G	A	75037471	3	1	60	1	0	0	0	0	1	0	0	0	2029	1087	38	1	673	1	C1orf173	1	75037471	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08		75037471	174213150	1	4738											
ELTD1	64123	broad.mit.edu	37	chr1	79392719	79392719	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtttcaataagaagttgtcaGatgatgaaagcaaaggacca	10	5	2	4			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:79392719G>T	ENST00000370742.3	-	8	998	c.935C>A	c.(934-936)tCt>tAt	p.S312Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	312					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAAGTTGTCAGATGATGAAAG	0.318													False	0	False	1:79392719	0	T	79392719	G	T	79392719	3	4	60	1	0	0	0	0	1	0	0	0	5116	942	33	3	1169	3	ELTD1	1	79392719	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08	4355248	79392719	169857902	2	4739											
CDC14A	8556	broad.mit.edu	37	chr1	100843110	100843110	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgtatcttagtttctatgCagattttggaccgctgaact	8	8	2	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:100843110C>A	ENST00000370125.2	+	3	637	c.149C>A	c.(148-150)gCa>gAa	p.A50E	CDC14A_ENST00000542213.1_5'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.A50E|CDC14A_ENST00000336454.3_Missense_Mutation_p.A50E|CDC14A_ENST00000361544.6_Missense_Mutation_p.A50E|CDC14A_ENST00000370124.3_Missense_Mutation_p.A50E			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	50	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGTTTCTATGCAGATTTTGGA	0.279													False	0	False	1:100843110	0	A	100843110	C	A	100843110	3	1	60	1	0	0	0	0	1	0	0	0	3079	710	25	3	159	3	CDC14A	1	100843110	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	21450391	100843110	148407511	3	4740											
KCNT2	343450	broad.mit.edu	37	chr1	196227479	196227479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccttttctgctcagtcttCgggcccactgcatgcttttt	9	13	3	0			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:196227479C>T	ENST00000367433.5	-	25	3085	c.2984G>A	c.(2983-2985)cGa>cAa	p.R995Q	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.R1019Q|KCNT2_ENST00000367431.4_Missense_Mutation_p.R953Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.R952Q	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1019						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R1019Q(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTCAGTCTTCGGGCCCACTG	0.512													False	0	True	1:196227479	0	T	196227479	C	T	196227479	3	4	60	1	0	0	0	0	1	0	0	0	8142	884	31	1	363	1	KCNT2	1	196227479	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	95384369	196227479	53023142	4	4741											
SRGAP2	23380	broad.mit.edu	37	chr1	206574946	206574948	+	In_Frame_Del	DEL	ACA	ACA	-													gcagcgcctcatggagatgtAcaacaacgtcttctgccccc							TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	ACA	ACA	-	-	ACA	ACA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:206574946_206574948delACA	ENST00000414007.1	+	4	578_580	c.578_580delACA	c.(577-582)tacaac>tac	p.N195del	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	335					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ATGGAGATGTACAACAACGTCTT	0.532													False	2	False	1:206574946	0	-	206574948	ACA	-	206574946	7	5	60	1	0	1	0	1	0	0	0	0	15228	391	14	0	756	0	SRGAP2	1	206574946	In_Frame_Del	DEL	ACA	TCGA-HZ-7922-01A-11D-2154-08	10347467	206574946	42675675	5	4742											
TRIM58	25893	broad.mit.edu	37	chr1	248039221	248039221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatgtaaagctggatccCgccacggcgcacccgagtct	13	13	1	0			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:248039221C>T	ENST00000366481.3	+	6	939	c.891C>T	c.(889-891)ccC>ccT	p.P297P	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	297	B30.2/SPRY.					intracellular	zinc ion binding	p.P297P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCTGGATCCCGCCACGGCGC	0.537													False	0	True	1:248039221	0	T	248039221	C	T	248039221	2	4	60	1	0	0	0	0	0	0	0	1	16614	639	23	1		1	TRIM58	1	248039221	Silent	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	41464275	248039221	1211400	6	4743											
XDH	7498	broad.mit.edu	37	chr2	31625970	31625970	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcactgtgcaagccccgcaGcccccctctccacagccgag	8	20	2	0			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:31625970G>T	ENST00000379416.3	-	3	189	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	47	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAGCCCCGCAGCCCCCCTCTC	0.577													False	0	True	2:31625970	0	T	31625970	G	T	31625970	2	4	60	1	0	0	0	0	0	0	0	1	17510	958	34	3		3	XDH	2	31625970	Silent	SNP	G	TCGA-HZ-7922-01A-11D-2154-08		31625970	211573403	7	4744											
DYSF	8291	broad.mit.edu	37	chr2	71795377	71795377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaccccaagttttctgacGtcacgggcaagatcaagcta	8	13	3	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:71795377G>A	ENST00000258104.3	+	26	2996	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	DYSF_ENST00000429174.2_Missense_Mutation_p.V907I|DYSF_ENST00000409651.1_Missense_Mutation_p.V939I|DYSF_ENST00000409366.1_Missense_Mutation_p.V908I|DYSF_ENST00000409744.1_Missense_Mutation_p.V894I|DYSF_ENST00000394120.2_Missense_Mutation_p.V908I|DYSF_ENST00000409582.3_Missense_Mutation_p.V924I|DYSF_ENST00000409762.1_Missense_Mutation_p.V924I|DYSF_ENST00000410020.3_Missense_Mutation_p.V925I|DYSF_ENST00000410041.1_Missense_Mutation_p.V925I|DYSF_ENST00000413539.2_Missense_Mutation_p.V938I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	907						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTTTTCTGACGTCACGGGCAA	0.592													False	0	False	2:71795377	0	A	71795377	G	A	71795377	3	1	60	1	0	0	0	0	1	0	0	0	4889	1145	40	1	3013	1	DYSF	2	71795377	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08	40169407	71795377	171403996	8	4745											
TTN	7273	broad.mit.edu	37	chr2	179579858	179579858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attatcttgtacttcttgccGctcctaagttctctcttgtc	5	12	4	0			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:179579858G>A	ENST00000589042.1	-	90	26279	c.26055C>T	c.(26053-26055)agC>agT	p.S8685S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.S8368S|TTN_ENST00000342992.6_Silent_p.S7441S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8368	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTCTTGCCGCTCCTAAGTT	0.443													False	0	False	2:179579858	0	A	179579858	G	A	179579858	2	1	60	1	0	0	0	0	0	0	0	1	16819	1078	38	1		1	TTN	2	179579858	Silent	SNP	G	TCGA-HZ-7922-01A-11D-2154-08	107784481	179579858	63619515	9	4746											
ABCA12	26154	broad.mit.edu	37	chr2	215835096	215835096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagtaagttcttctgtgcGgtggggaatagttaaattta	12	3	2	1			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:215835096G>A	ENST00000272895.7	-	37	5810	c.5591C>T	c.(5590-5592)cCg>cTg	p.P1864L	ABCA12_ENST00000389661.4_Missense_Mutation_p.P1546L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1864					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTTCTGTGCGGTGGGGAATA	0.358													False	0	False	2:215835096	0	A	215835096	G	A	215835096	3	1	60	1	0	0	0	0	1	0	0	0	30	1116	39	1	2264	1	ABCA12	2	215835096	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08	36255238	215835096	27364277	10	4747											
ATRIP	84126	broad.mit.edu	37	chr3	48491541	48491541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagataatttcgaattagagGtacttcaggcacaatacaaa	7	6	1	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:48491541G>A	ENST00000412052.1	+	2	529	c.67G>A	c.(67-69)Gta>Ata	p.V23I	ATRIP_ENST00000346691.4_Missense_Mutation_p.V116I|ATRIP_ENST00000357105.6_5'UTR|ATRIP_ENST00000320211.3_Missense_Mutation_p.V116I	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	116					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAATTAGAGGTACTTCAGGC	0.333								Other conserved DNA damage response genes					False	0	False	3:48491541	0	A	48491541	G	A	48491541	3	1	60	1	0	0	0	0	1	0	0	0	1209	1261	44	2	352	2	ATRIP	3	48491541	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08		48491541	149530889	11	4748											
ROBO1	6091	broad.mit.edu	37	chr3	78734918	78734918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtaacttccaaatatgcCtttgtgatgatgcttccagc	7	10	1	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:78734918C>A	ENST00000436010.2	-	8	2200	c.1203G>T	c.(1201-1203)aaG>aaT	p.K401N	ROBO1_ENST00000495273.1_Missense_Mutation_p.K404N|ROBO1_ENST00000464233.1_Missense_Mutation_p.K440N|ROBO1_ENST00000467549.1_Missense_Mutation_p.K404N			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	440	Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCAAATATGCCTTTGTGATGA	0.383													False	0	True	3:78734918	0	A	78734918	C	A	78734918	3	1	60	1	0	0	0	0	1	0	0	0	13592	680	24	3	3723	3	ROBO1	3	78734918	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	30243377	78734918	119287512	12	4749											
PLA1A	51365	broad.mit.edu	37	chr3	119327676	119327676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaacccttctgcgtgcaaCgaatgctaatgtgattgccg	10	10	1	2	rs145457987	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:119327676C>T	ENST00000273371.4	+	3	407	c.335C>T	c.(334-336)aCg>aTg	p.T112M	PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_Missense_Mutation_p.T96M|PLA1A_ENST00000495992.1_Missense_Mutation_p.T112M	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	112					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCGTGCAACGAATGCTAAT	0.438													False	0	False	3:119327676	0	T	119327676	C	T	119327676	3	4	60	1	0	0	0	0	1	0	0	0	12057	536	19	1	345	1	PLA1A	3	119327676	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	40592758	119327676	78694754	13	4750											
SI	6476	broad.mit.edu	37	chr3	164764706	164764706	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcccatgaagcagtattgtCtcctaaccaatgcgcagcat	7	12	1	1			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:164764706C>A	ENST00000264382.3	-	16	1872	c.1810G>T	c.(1810-1812)Gac>Tac	p.D604Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	604	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCAGTATTGTCTCCTAACCAA	0.393										HNSCC(35;0.089)			False	0	False	3:164764706	0	A	164764706	C	A	164764706	3	1	60	1	0	0	0	0	1	0	0	0	14378	913	32	3	3805	3	SI	3	164764706	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	45437030	164764706	33257724	14	4751											
MAEA	10296	broad.mit.edu	37	chr4	1283769	1283769	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagtacccgaccctcaAggtgggcgcctgcgccgcgc	14	17	1	0			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:1283769A>G	ENST00000303400.4	+	1	131	c.68A>G	c.(67-69)aAg>aGg	p.K23R	MAEA_ENST00000514708.1_Splice_Site_p.K23R|MAEA_ENST00000264750.6_Splice_Site_p.K23R|MAEA_ENST00000452175.2_Splice_Site_p.K12R|MAEA_ENST00000505177.2_Splice_Site_p.K23R	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	23	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CCGACCCTCAAGGTGGGCGCC	0.716													False	0	False	4:1283769	0	G	1283769	A	G	1283769	5	3	60	1	0	0	0	0	0	0	1	0	9216	86	3	4	70	4	MAEA	4	1283769	Splice_Site	SNP	A	TCGA-HZ-7922-01A-11D-2154-08		1283769	189870507	15	4752											
LRBA	987	broad.mit.edu	37	chr4	151791686	151791686	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaatacatacgagggttttGtatcttcactgaagaatcag	8	6	3	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:151791686G>C	ENST00000535741.1	-	20	2913	c.2440C>G	c.(2440-2442)Caa>Gaa	p.Q814E	LRBA_ENST00000357115.3_Missense_Mutation_p.Q814E|LRBA_ENST00000507224.1_Missense_Mutation_p.Q814E|LRBA_ENST00000510413.1_Missense_Mutation_p.Q814E			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	814						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CGAGGGTTTTGTATCTTCACT	0.313													False	0	True	4:151791686	0	C	151791686	G	C	151791686	3	2	60	1	0	0	0	0	1	0	0	0	8993	1386	48	5	6307	5	LRBA	4	151791686	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08	150507917	151791686	39362590	16	4753											
GOLPH3	64083	broad.mit.edu	37	chr5	32126388	32126388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagacattccacttcaGggtctaagtcgagaagctgc	9	12	3	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr5:32126388G>A	ENST00000265070.6	-	4	1142	c.827C>T	c.(826-828)cCt>cTt	p.P276L		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	276					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TTCCACTTCAGGGTCTAAGTC	0.542													False	0	True	5:32126388	0	A	32126388	G	A	32126388	3	1	60	1	0	0	0	0	1	0	0	0	6613	1000	35	2	73	2	GOLPH3	5	32126388	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08		32126388	148788872	17	4754											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	60	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-HZ-7922-01A-11D-2154-08	46484056	78610444	102304816	18	4755											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	60	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-HZ-7922-01A-11D-2154-08		7393450	163721617	19	4756											
LPA	4018	broad.mit.edu	37	chr6	161032642	161032642	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tatgcgagtgtggtgtcataGatgaccaagcttggcaggtt	14	6	1	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr6:161032642G>C	ENST00000447678.1	-	17	2675	c.2555C>G	c.(2554-2556)tCt>tGt	p.S852C	LPA_ENST00000316300.5_Missense_Mutation_p.S852C	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3360	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTGTCATAGATGACCAAGC	0.493													False	0	False	6:161032642	0	C	161032642	G	C	161032642	3	2	60	1	0	0	0	0	1	0	0	0	8965	942	33	5	3663	5	LPA	6	161032642	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08	153639192	161032642	10082425	20	4757											
TNRC18	84629	broad.mit.edu	37	chr7	5410273	5410273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaggaagcaggtgctgcCgagtacaggcacggcctctt	13	12	1	0			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:5410273C>T	ENST00000399537.4	-	11	4300	c.3952G>A	c.(3952-3954)Ggc>Agc	p.G1318S	TNRC18_ENST00000430969.1_Missense_Mutation_p.G1318S			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1318							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGGTGCTGCCGAGTACAGGC	0.662													False	0	False	7:5410273	0	T	5410273	C	T	5410273	3	4	60	1	0	0	0	0	1	0	0	0	16421	652	23	1	5034	1	TNRC18	7	5410273	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08		5410273	153728390	21	4758											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	60	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-HZ-7922-01A-11D-2154-08	38743505	44153778	114984885	22	4759											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	11	12	1	1	rs147859349		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													False	0	False	7:72398976	0	G	72398976	A	G	72398976	3	3	60	1	0	0	0	0	1	0	0	0	12308	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-HZ-7922-01A-11D-2154-08	28245198	72398976	86739687	23	4760											
FLNC	2318	broad.mit.edu	37	chr7	128477594	128477594	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagaaagccatcgcctAtgggcctggtatgtgtgagc	12	12	0	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:128477594A>G	ENST00000325888.8	+	4	1103	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	FLNC_ENST00000346177.6_Missense_Mutation_p.Y281C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	281					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCCATCGCCTATGGGCCTGGT	0.602													False	0	False	7:128477594	0	G	128477594	A	G	128477594	3	3	60	1	0	0	0	0	1	0	0	0	5975	449	16	4	856	4	FLNC	7	128477594	Missense_Mutation	SNP	A	TCGA-HZ-7922-01A-11D-2154-08	56078618	128477594	30661069	24	4761											
GDF6	392255	broad.mit.edu	37	chr8	97156945	97156945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccatggagttcatcagcGtctggatgatggcgtggttg	16	7	3	1			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:97156945G>A	ENST00000287020.5	-	2	1313	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	405					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GTTCATCAGCGTCTGGATGAT	0.602													False	0	False	8:97156945	0	A	97156945	G	A	97156945	3	1	60	1	0	0	0	0	1	0	0	0	6362	1145	40	1	157	1	GDF6	8	97156945	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08		97156945	49207077	25	4762											
PARP10	84875	broad.mit.edu	37	chr8	145059772	145059798	+	In_Frame_Del	DEL	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-													ggccagggacaccaaggtccCctccaggcccagattctggg					rs146902781	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	-	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:145059772_145059798delCCTCCAGGCCCAGATTCTGGGCCTGCT	ENST00000524918.1	-	4	541_567	c.455_481delAGCAGGCCCAGAATCTGGGCCTGGAGG	c.(454-483)gagcaggcccagaatctgggcctggagggg>ggg	p.EQAQNLGLE152del	PARP10_ENST00000313028.7_In_Frame_Del_p.EQAQNLGLE152del|PARP10_ENST00000525773.1_In_Frame_Del_p.EQAQNLGLE164del|PARP10_ENST00000533665.1_5'UTR			Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	152						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAAGGTCCCCTCCAGGCCCAGATTCTGGGCCTGCTCCTCCAGGAC	0.648													False	1	False	8:145059772	0	-	145059798	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	145059772	7	5	60	1	0	1	0	1	0	0	0	0	11523	623	22	0	2628	0	PARP10	8	145059772	In_Frame_Del	DEL	CCTCCAGGCCCAGATTCTGGGCCTGCT	TCGA-HZ-7922-01A-11D-2154-08	47902827	145059772	1304250	26	4763											
IFNA7	3444	broad.mit.edu	37	chr9	21201945	21201945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggacagagatggcttgagTcttctggaactggtggccat	15	7	2	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:21201945T>C	ENST00000239347.3	-	1	259	c.220A>G	c.(220-222)Act>Gct	p.T74A		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	74					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATGGCTTGAGTCTTCTGGAAC	0.493													False	0	False	9:21201945	0	C	21201945	T	C	21201945	3	2	60	1	0	0	0	0	1	0	0	0	7592	1667	58	4	353	4	IFNA7	9	21201945	Missense_Mutation	SNP	T	TCGA-HZ-7922-01A-11D-2154-08		21201945	120011486	27	4764											
SH2D3C	10044	broad.mit.edu	37	chr9	130507114	130507114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggctggaggtctcagtcGctgcccactctcggctgcca	13	15	2	0	rs142472912	by1000genomes	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:130507114G>A	ENST00000314830.8	-	7	1642	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	SH2D3C_ENST00000373277.4_Missense_Mutation_p.A353V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A442V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A352V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A350V|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.A156V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	510					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTCTCAGTCGCTGCCCACTC	0.627													False	0	False	9:130507114	0	A	130507114	G	A	130507114	3	1	60	1	0	0	0	0	1	0	0	0	14315	1087	38	1	1077	1	SH2D3C	9	130507114	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08	109305169	130507114	10706317	28	4765											
UBAC1	10422	broad.mit.edu	37	chr9	138836942	138836944	+	In_Frame_Del	DEL	CCT	CCT	-													ttccgtcagctcatctctggCctcctcatcggtggcgctgg					rs66767056		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:138836942_138836944delCCT	ENST00000371756.3	-	7	1023_1025	c.806_808delAGG	c.(805-810)gaggcc>gcc	p.E269del	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	269				Missing (in Ref. 1; AAD51084).		Golgi apparatus|plasma membrane	protein binding	p.E269delE(1)|p.E269fs*6(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TCATCTCTGGCCTCCTCATCGGT	0.621													False	2	False	9:138836942	0	-	138836944	CCT	-	138836942	7	5	60	1	0	1	0	1	0	0	0	0	16918	739	26	0	425	0	UBAC1	9	138836942	In_Frame_Del	DEL	CCT	TCGA-HZ-7922-01A-11D-2154-08	8329828	138836942	2376489	29	4766											
TBC1D12	23232	broad.mit.edu	37	chr10	96269882	96269882	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcgagaggccagtctggaAttaattaagttggacatatc	11	6	1	1			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr10:96269882A>G	ENST00000225235.4	+	8	1745	c.1635A>G	c.(1633-1635)gaA>gaG	p.E545E	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	545	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCAGTCTGGAATTAATTAAGT	0.353													False	0	True	10:96269882	0	G	96269882	A	G	96269882	2	3	60	1	0	0	0	0	0	0	0	1	15683	98	4	4		4	TBC1D12	10	96269882	Silent	SNP	A	TCGA-HZ-7922-01A-11D-2154-08		96269882	39264865	30	4767											
OR4D5	219875	broad.mit.edu	37	chr11	123810383	123810383	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactggggctctctcaggtTtgggagcttcggtttgtttt	13	8	2	0			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr11:123810383T>C	ENST00000307033.2	+	1	134	c.60T>C	c.(58-60)gtT>gtC	p.V20V		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTCTCAGGTTTGGGAGCTTC	0.443													False	0	True	11:123810383	0	C	123810383	T	C	123810383	2	2	60	1	0	0	0	0	0	0	0	1	11125	1828	64	4		4	OR4D5	11	123810383	Silent	SNP	T	TCGA-HZ-7922-01A-11D-2154-08		123810383	11196133	31	4768											
KCNA6	3742	broad.mit.edu	37	chr12	4920010	4920010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttctttctggtggagaCgctgtgcattgtctggttca	11	11	4	1			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:4920010C>T	ENST00000433855.1	+	1	1669	c.803C>T	c.(802-804)aCg>aTg	p.T268M	KCNA6_ENST00000280684.3_Missense_Mutation_p.T268M	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	268						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTGGTGGAGACGCTGTGCATT	0.562										HNSCC(72;0.22)			False	0	False	12:4920010	0	T	4920010	C	T	4920010	3	4	60	1	0	0	0	0	1	0	0	0	8057	536	19	1	805	1	KCNA6	12	4920010	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08		4920010	128931885	32	4769											
KRAS	3845	broad.mit.edu	37	chr12	25380275	25380275	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgcactgtactcctcTtgacctgctgtgtcgagaat	8	12	2	2	rs17851045		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:25380275T>A	ENST00000311936.3	-	3	374	c.183A>T	c.(181-183)caA>caT	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25380275	0	A	25380275	T	A	25380275	3	1	60	1	0	0	0	0	1	0	0	0	8488	1606	56	5	519	5	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-HZ-7922-01A-11D-2154-08	20460265	25380275	108471620	33	4770											
ARID2	196528	broad.mit.edu	37	chr12	46231283	46231283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatttgtatgtttttcaggcAtggaaattttgggaaatctt	9	3	2	0			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:46231283A>G	ENST00000334344.6	+	10	1295	c.1123A>G	c.(1123-1125)Atg>Gtg	p.M375V	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.M226V|ARID2_ENST00000444670.1_Missense_Mutation_p.M4V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	375					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTTCAGGCATGGAAATTTT	0.308			"N, S, F"		hepatocellular carcinoma								False	0	False	12:46231283	0	G	46231283	A	G	46231283	3	3	60	1	0	0	0	0	1	0	0	0	917	217	8	4	1161	4	ARID2	12	46231283	Missense_Mutation	SNP	A	TCGA-HZ-7922-01A-11D-2154-08	20851008	46231283	87620612	34	4771											
SPRYD3	84926	broad.mit.edu	37	chr12	53459657	53459657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctactttgactttctcccCgcagctcagcattccaatgg	6	14	3	1			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:53459657C>T	ENST00000301463.4	-	11	1374	c.1288G>A	c.(1288-1290)Ggg>Agg	p.G430R	SPRYD3_ENST00000547837.1_Missense_Mutation_p.G467R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	430								p.G430W(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ACTTTCTCCCCGCAGCTCAGC	0.567											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	12:53459657	0	T	53459657	C	T	53459657	3	4	60	1	0	0	0	0	1	0	0	0	15191	652	23	1	44	1	SPRYD3	12	53459657	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	7228374	53459657	80392238	35	4772											
RAB3IP	117177	broad.mit.edu	37	chr12	70209146	70209146	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttttctgtttgtatagttGatcagatgttttgggaggtt	11	3	3	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:70209146G>A	ENST00000550536.1	+	11	1808	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	RAB3IP_ENST00000550847.1_Missense_Mutation_p.D142N|RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000483530.2_3'UTR|AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000247833.7_Missense_Mutation_p.D435N|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D229N|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D229N|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D229N	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	451					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TTGTATAGTTGATCAGATGTT	0.363													False	0	False	12:70209146	0	A	70209146	G	A	70209146	3	1	60	1	0	0	0	0	1	0	0	0	13017	1290	45	2	1393	2	RAB3IP	12	70209146	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08	16749489	70209146	63642749	36	4773											
GTF3A	2971	broad.mit.edu	37	chr13	28001293	28001293	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggactaccatctgagccGccacattctgactcacacag	8	15	3	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:28001293G>T	ENST00000381140.4	+	2	460	c.266G>T	c.(265-267)cGc>cTc	p.R89L	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088	Q92664	TF3A_HUMAN	general transcription factor IIIA	89					regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		CATCTGAGCCGCCACATTCTG	0.453													False	0	False	13:28001293	0	T	28001293	G	T	28001293	3	4	60	1	0	0	0	0	1	0	0	0	6918	1087	38	3	272	3	GTF3A	13	28001293	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08		28001293	87168585	37	4774											
PCDH9	5101	broad.mit.edu	37	chr13	67802227	67802227	+	Missense_Mutation	SNP	C	C	A													gaaatcattggggaggatcaCcacctcaagttcaaagaaac							TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:67802227C>A	ENST00000544246.1	-	2	1037	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	PCDH9_ENST00000377865.2_Missense_Mutation_p.V116L|PCDH9_ENST00000377861.3_Missense_Mutation_p.V116L|PCDH9_ENST00000456367.1_Missense_Mutation_p.V116L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V116L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	116	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGGAGGATCACCACCTCAAGT	0.408													False	0	False	13:67802227	0	A	67802227	C	A	67802227	3	1	60	1	0	0	0	0	1	0	0	0	11586	507	18	3	3383	3	PCDH9	13	67802227	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	39800934	67802227	47367651	38	4775	46	2									
PCDH9	5101	broad.mit.edu	37	chr13	67802228	67802228	+	Silent	SNP	C	C	A													aaatcattggggaggatcacCacctcaagttcaaagaaaca							TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:67802228C>A	ENST00000544246.1	-	2	1036	c.345G>T	c.(343-345)gtG>gtT	p.V115V	PCDH9_ENST00000377865.2_Silent_p.V115V|PCDH9_ENST00000377861.3_Silent_p.V115V|PCDH9_ENST00000456367.1_Silent_p.V115V|PCDH9_ENST00000328454.5_Silent_p.V115V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	115	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGGATCACCACCTCAAGTT	0.413													False	0	False	13:67802228	0	A	67802228	C	A	67802228	2	1	60	1	0	0	0	0	0	0	0	1	11586	581	21	3		3	PCDH9	13	67802228	Silent	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	1	67802228	47367650	39	4776	46	2									
C14orf39	317761	broad.mit.edu	37	chr14	60945081	60945081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatataatcttcatgtttaCgaaaaacatcacatgttggc	6	8	3	0			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:60945081C>T	ENST00000321731.3	-	5	419	c.260G>A	c.(259-261)cGt>cAt	p.R87H		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	87										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTCATGTTTACGAAAAACATC	0.264													False	0	False	14:60945081	0	T	60945081	C	T	60945081	3	4	60	1	0	0	0	0	1	0	0	0	1781	536	19	1	1559	1	C14orf39	14	60945081	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08		60945081	46404459	40	4777											
CGNL1	84952	broad.mit.edu	37	chr15	57823890	57823890	+	Frame_Shift_Del	DEL	C	C	-													ttgtgatttccttcttaggaCaaggtgtctcaactggagat							TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:57823890delC	ENST00000281282.5	+	14	3282	c.3204delC	c.(3202-3204)gacfs	p.D1068fs		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1068				D -> A (in Ref. 1; AAT37906).		myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTTCTTAGGACAAGGTGTCTC	0.448													False	1	False	15:57823890	0	-	57823890	C	-	57823890	7	5	60	1	0	1	0	1	0	0	0	0	3327	477	17	0	3254	0	CGNL1	15	57823890	Frame_Shift_Del	DEL	C	TCGA-HZ-7922-01A-11D-2154-08		57823890	44707502	41	4778											
ADAMTS7	11173	broad.mit.edu	37	chr15	79067130	79067130	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtatctgcctttgtatTtgggcctgtggggagaaccg	13	9	1	1	rs138755716		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:79067130T>C	ENST00000388820.4	-	12	1922	c.1712A>G	c.(1711-1713)aAa>aGa	p.K571R	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	571	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCCTTTGTATTTGGGCCTGTG	0.647													False	0	True	15:79067130	0	C	79067130	T	C	79067130	3	2	60	1	0	0	0	0	1	0	0	0	271	1841	64	4	3400	4	ADAMTS7	15	79067130	Missense_Mutation	SNP	T	TCGA-HZ-7922-01A-11D-2154-08	21243240	79067130	23464262	42	4779											
MGRN1	0	broad.mit.edu	37	chr16	4702743	4702743	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccgggtgctctacagcctgGagttcaccttcgacgccgat	11	15	2	0			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:4702743G>T	ENST00000399577.5	+	4	454	c.361G>T	c.(361-363)Gag>Tag	p.E121*	MGRN1_ENST00000586183.1_Nonsense_Mutation_p.E121*|MGRN1_ENST00000262370.7_Nonsense_Mutation_p.E121*|MGRN1_ENST00000588994.1_Nonsense_Mutation_p.E121*|MGRN1_ENST00000415496.1_Nonsense_Mutation_p.E121*	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	121					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTACAGCCTGGAGTTCACCTT	0.662													False	0	False	16:4702743	0	T	4702743	G	T	4702743	4	4	60	1	0	0	0	0	0	1	0	0	9626	1175	41	3	375	3	MGRN1	16	4702743	Nonsense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08		4702743	85652010	43	4780											
MYLPF	29895	broad.mit.edu	37	chr16	30389182	30389182	+	Frame_Shift_Del	DEL	C	C	-													gtcgactacaaaaacatctgCtacgtcatcacgcacggcga							TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:30389182delC	ENST00000322861.7	+	7	552	c.471delC	c.(469-471)tgcfs	p.C157fs		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	157	EF-hand 3.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			AAAACATCTGCTACGTCATCA	0.672													False	1	False	16:30389182	0	-	30389182	C	-	30389182	7	5	60	1	0	1	0	1	0	0	0	0	10127	805	28	0	497	0	MYLPF	16	30389182	Frame_Shift_Del	DEL	C	TCGA-HZ-7922-01A-11D-2154-08	25686439	30389182	59965571	44	4781											
RLTPR	146206	broad.mit.edu	37	chr16	67682073	67682073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatggatgaccggcagggCggactggagggcgggacggg	24	7	0	1			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:67682073C>T	ENST00000334583.6	+	14	1518	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V	RLTPR_ENST00000545661.1_Intron	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	397										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACCGGCAGGGCGGACTGGAGG	0.692													False	0	True	16:67682073	0	T	67682073	C	T	67682073	3	4	60	1	0	0	0	0	1	0	0	0	13473	768	27	1	1244	1	RLTPR	16	67682073	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	37292891	67682073	22672680	45	4782											
PSKH1	5681	broad.mit.edu	37	chr16	67961230	67961230	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttgtccttggtctctagccCtggcctagtgtgtccaacct	9	14	1	0			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:67961230C>G	ENST00000291041.5	+	3	1130	c.960C>G	c.(958-960)ccC>ccG	p.P320P		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	320	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GTCTCTAGCCCTGGCCTAGTG	0.587													False	0	True	16:67961230	0	G	67961230	C	G	67961230	2	3	60	1	0	0	0	0	0	0	0	1	12740	668	24	5		5	PSKH1	16	67961230	Silent	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	279157	67961230	22393523	46	4783											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	12	9	0	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552		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)			False	0	False	17:7578263	0	A	7578263	G	A	7578263	4	1	60	1	0	0	0	0	0	1	0	0	16464	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08		7578263	73616947	47	4784											
KDM6B	23135	broad.mit.edu	37	chr17	7752472	7752472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcgactgctgccccccGcacaggccaaggaggaggct	14	15	0	1			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:7752472G>A	ENST00000254846.5	+	11	3255	c.2866G>A	c.(2866-2868)Gca>Aca	p.A956T	KDM6B_ENST00000448097.2_Missense_Mutation_p.A956T	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	956					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCTGCCCCCCGCACAGGCCAA	0.692													False	0	True	17:7752472	0	A	7752472	G	A	7752472	3	1	60	1	0	0	0	0	1	0	0	0	8188	1087	38	1	2896	1	KDM6B	17	7752472	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08	174209	7752472	73442738	48	4785											
NCOR1	9611	broad.mit.edu	37	chr17	16089977	16089977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcacttcaagatgagaggAacgataatcagggactgcga	11	8	3	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:16089977A>G	ENST00000268712.3	-	3	390	c.133T>C	c.(133-135)Tcc>Ccc	p.S45P	NCOR1_ENST00000395851.1_Missense_Mutation_p.S45P|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	45	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATGAGAGGAACGATAATCA	0.403													False	0	False	17:16089977	0	G	16089977	A	G	16089977	3	3	60	1	0	0	0	0	1	0	0	0	10303	246	9	4	7365	4	NCOR1	17	16089977	Missense_Mutation	SNP	A	TCGA-HZ-7922-01A-11D-2154-08	8337505	16089977	65105233	49	4786											
DNAI2	64446	broad.mit.edu	37	chr17	72308199	72308199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccaggcaccgggagatgCggctgaaggagaagggtaag	19	7	0	3			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:72308199C>T	ENST00000579490.1	+	11	1858	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	DNAI2_ENST00000446837.2_Missense_Mutation_p.R518W|DNAI2_ENST00000311014.6_Missense_Mutation_p.R518W|DNAI2_ENST00000582036.1_Missense_Mutation_p.R506W|DNAI2_ENST00000307504.5_Missense_Mutation_p.R375W			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	518					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCGGGAGATGCGGCTGAAGGA	0.657									Kartagener syndrome				False	0	False	17:72308199	0	T	72308199	C	T	72308199	3	4	60	1	0	0	0	0	1	0	0	0	4640	759	27	1	1594	1	DNAI2	17	72308199	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	56218222	72308199	8887011	50	4787											
CAPNS1	826	broad.mit.edu	37	chr19	36633201	36633201	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccccttatctcttcgcaGcgaggcggctgcgcagtaca	10	16	1	0			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:36633201G>A	ENST00000246533.3	+	3	807		c.e3-1		CAPNS1_ENST00000590874.1_Splice_Site|CAPNS1_ENST00000587718.1_Splice_Site|CAPNS1_ENST00000588815.1_Splice_Site|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588780.1_Splice_Site	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1						positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTCTTCGCAGCGAGGCGGCT	0.652													False	0	False	19:36633201	0	A	36633201	G	A	36633201	5	1	60	1	0	0	0	0	0	0	1	0	2653	985	34	2	215	2	CAPNS1	19	36633201	Splice_Site	SNP	G	TCGA-HZ-7922-01A-11D-2154-08		36633201	22495782	51	4788											
FCGBP	8857	broad.mit.edu	37	chr19	40368392	40368392	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagagccttgcaaagaatgTcacggtccccaccacccatg	8	16	1	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:40368392T>C	ENST00000221347.6	-	28	12963	c.12956A>G	c.(12955-12957)gAc>gGc	p.D4319G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4319						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAAAGAATGTCACGGTCCCC	0.622													False	0	False	19:40368392	0	C	40368392	T	C	40368392	3	2	60	1	0	0	0	0	1	0	0	0	5818	1667	58	4	3297	4	FCGBP	19	40368392	Missense_Mutation	SNP	T	TCGA-HZ-7922-01A-11D-2154-08	3735191	40368392	18760591	52	4789											
VRK3	51231	broad.mit.edu	37	chr19	50504080	50504080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttttgcttctgtggtccTgagtcacaggtgagggtgga	14	7	2	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:50504080T>C	ENST00000443401.2	-	5	516	c.38A>G	c.(37-39)cAg>cGg	p.Q13R	VRK3_ENST00000599538.1_Silent_p.S193S|VRK3_ENST00000601341.1_Silent_p.S143S|VRK3_ENST00000316763.3_Silent_p.S193S|VRK3_ENST00000601912.1_Silent_p.S143S|VRK3_ENST00000594948.1_Silent_p.S193S|VRK3_ENST00000593919.1_Silent_p.S193S|VRK3_ENST00000377011.2_Silent_p.S143S|VRK3_ENST00000594092.1_Silent_p.S193S|VRK3_ENST00000424804.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	0						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCTGTGGTCCTGAGTCACAGG	0.542													False	0	False	19:50504080	0	C	50504080	T	C	50504080	3	2	60	1	0	0	0	0	1	0	0	0	17305	1567	55	4	881	4	VRK3	19	50504080	Missense_Mutation	SNP	T	TCGA-HZ-7922-01A-11D-2154-08	10135688	50504080	8624903	53	4790											
KLK1	3816	broad.mit.edu	37	chr19	51322554	51322554	+	Missense_Mutation	SNP	A	A	T													acaagggacgtagccccatgAtgtgacaccttggagcacac							TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:51322554A>T	ENST00000448701.2	-	6	1703	c.379T>A	c.(379-381)Tca>Aca	p.S127T	KLK1_ENST00000301420.2_Missense_Mutation_p.S229T			P06870	KLK1_HUMAN	kallikrein 1	229	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGCCCCATGATGTGACACCT	0.582													False	0	False	19:51322554	0	T	51322554	A	T	51322554	3	4	60	1	0	0	0	0	1	0	0	0	8447	333	12	5	107	5	KLK1	19	51322554	Missense_Mutation	SNP	A	TCGA-HZ-7922-01A-11D-2154-08	818474	51322554	7806429	54	4791	47	2									
KLK1	3816	broad.mit.edu	37	chr19	51322555	51322555	+	Silent	SNP	T	T	G													caagggacgtagccccatgaTgtgacaccttggagcacacc							TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:51322555T>G	ENST00000448701.2	-	6	1702	c.378A>C	c.(376-378)acA>acC	p.T126T	KLK1_ENST00000301420.2_Silent_p.T228T			P06870	KLK1_HUMAN	kallikrein 1	228	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCCCATGATGTGACACCTT	0.577													False	0	False	19:51322555	0	G	51322555	T	G	51322555	2	3	60	1	0	0	0	0	0	0	0	1	8447	1451	51	4		4	KLK1	19	51322555	Silent	SNP	T	TCGA-HZ-7922-01A-11D-2154-08	1	51322555	7806428	55	4792	47	2									
NLRP4	147945	broad.mit.edu	37	chr19	56369355	56369355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgagggagttgccgccaaCgagtttggctgacttgattt	13	8	0	3			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:56369355C>T	ENST00000301295.6	+	3	1018	c.596C>T	c.(595-597)aCg>aTg	p.T199M	NLRP4_ENST00000587891.1_Missense_Mutation_p.T124M|NLRP4_ENST00000346986.5_Missense_Mutation_p.T199M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	199	NACHT.						ATP binding	p.T199M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTGCCGCCAACGAGTTTGGCT	0.517													False	0	False	19:56369355	0	T	56369355	C	T	56369355	3	4	60	1	0	0	0	0	1	0	0	0	10547	536	19	1	602	1	NLRP4	19	56369355	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	5046800	56369355	2759628	56	4793											
KRTAP6-1	337966	broad.mit.edu	37	chr21	31986063	31986063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccatagccacagagggagCgggagccatagccatagcca	13	12	0	1	rs28567421	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:31986063C>T	ENST00000329122.2	-	1	186	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	54						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						ACAGAGGGAGCGGGAGCCATA	0.587													False	0	True	21:31986063	0	T	31986063	C	T	31986063	3	4	60	1	0	0	0	0	1	0	0	0	8620	768	27	1	58	1	KRTAP6-1	21	31986063	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08		31986063	16143832	57	4794											
DOPEY2	9980	broad.mit.edu	37	chr21	37609603	37609603	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgaacaaagagacccGggagcatcacgtcacctgcg	11	13	3	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:37609603G>C	ENST00000399151.3	+	16	2751	c.2666G>C	c.(2665-2667)cGg>cCg	p.R889P		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	889					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGAGACCCGGGAGCATCAC	0.592													False	0	True	21:37609603	0	C	37609603	G	C	37609603	3	2	60	1	0	0	0	0	1	0	0	0	4738	1116	39	5	2724	5	DOPEY2	21	37609603	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08	5623540	37609603	10520292	58	4795											
AGPAT3	56894	broad.mit.edu	37	chr21	45389013	45389013	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctccagagctccaaggtcctCgctaagaaggagctgctcta	10	13	1	2	rs146737372	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:45389013C>A	ENST00000398063.2	+	4	855	c.363C>A	c.(361-363)ctC>ctA	p.L121L	AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Silent_p.L121L|AGPAT3_ENST00000398058.1_Silent_p.L121L|AGPAT3_ENST00000327505.2_Silent_p.L121L|AGPAT3_ENST00000291572.8_Silent_p.L121L|AGPAT3_ENST00000398061.1_Silent_p.L121L	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	121					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CCAAGGTCCTCGCTAAGAAGG	0.637													False	0	False	21:45389013	0	A	45389013	C	A	45389013	2	1	60	1	0	0	0	0	0	0	0	1	388	871	31	3		3	AGPAT3	21	45389013	Silent	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	7779410	45389013	2740882	59	4796											
NEFH	4744	broad.mit.edu	37	chr22	29886317	29886317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaagccaagaaggaagaGgctgaagataagaaaaaagt	13	3	0	6			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:29886317G>A	ENST00000310624.6	+	4	2721	c.2688G>A	c.(2686-2688)gaG>gaA	p.E896E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	902	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGAAGGAAGAGGCTGAAGATA	0.512													False	0	False	22:29886317	0	A	29886317	G	A	29886317	2	1	60	1	0	0	0	0	0	0	0	1	10382	991	35	2		2	NEFH	22	29886317	Silent	SNP	G	TCGA-HZ-7922-01A-11D-2154-08		29886317	21418249	60	4797											
ACE2	59272	broad.mit.edu	37	chrX	15582310	15582310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggctgttgtcattcagacGgaaagcatcattgatacggc	11	8	3	2	rs144869363	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:15582310G>A	ENST00000427411.1	-	18	2362	c.2146C>T	c.(2146-2148)Cgt>Tgt	p.R716C	ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000252519.3_Missense_Mutation_p.R716C	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	716					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TCATTCAGACGGAAAGCATCA	0.428													False	0	False	X:15582310	0	A	15582310	G	A	15582310	3	1	60	1	0	0	0	0	1	0	0	0	137	1116	39	1	279	1	ACE2	23	15582310	Missense_Mutation	SNP	G	TCGA-HZ-7922-01A-11D-2154-08		15582310	139688250	61	4798											
SHROOM4	57477	broad.mit.edu	37	chrX	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-													aatactggggtggcagctccTcttcctcctcctctgcctcc					rs3747282	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:50350672_50350674delTCT	ENST00000460112.3	-	5	3574_3576	c.3120_3122delAGA	c.(3118-3123)gaagag>gag	p.1040_1041EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													False	1	False	X:50350672	0	-	50350674	TCT	-	50350672	7	5	60	1	0	1	0	1	0	0	0	0	14377	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-HZ-7922-01A-11D-2154-08	34768362	50350672	104919888	62	4799											
NLGN3	54413	broad.mit.edu	37	chrX	70389792	70389792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacaccctgaccctgcggCgctccccggatgacatccca	8	19	0	2			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:70389792C>T	ENST00000374051.3	+	7	2654	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	NLGN3_ENST00000536169.1_Missense_Mutation_p.R758C|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Missense_Mutation_p.R798C	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	798					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.R778C(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GACCCTGCGGCGCTCCCCGGA	0.612													False	0	False	X:70389792	0	T	70389792	C	T	70389792	3	4	60	1	0	0	0	0	1	0	0	0	10531	768	27	1	2418	1	NLGN3	23	70389792	Missense_Mutation	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	20039120	70389792	84880768	63	4800											
AMOT	154796	broad.mit.edu	37	chrX	112048283	112048283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacgggcagtggccagctcCgcttccagcttctccttctc	10	16	2	0			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:112048283C>T	ENST00000371959.3	-	5	1667	c.1668G>A	c.(1666-1668)gcG>gcA	p.A556A	AMOT_ENST00000524145.1_Silent_p.A556A|AMOT_ENST00000371962.1_Silent_p.A324A|AMOT_ENST00000304758.1_Silent_p.A147A|AMOT_ENST00000371958.1_Silent_p.A324A	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	556					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TGGCCAGCTCCGCTTCCAGCT	0.527													False	0	False	X:112048283	0	T	112048283	C	T	112048283	2	4	60	1	0	0	0	0	0	0	0	1	582	639	23	1		1	AMOT	23	112048283	Silent	SNP	C	TCGA-HZ-7922-01A-11D-2154-08	41658491	112048283	43222277	64	4801											
ACTRT2	140625	broad.mit.edu	37	chr1	2938408	2938410	+	In_Frame_Del	DEL	AGA	AGA	-													tccctcagcagaggccaaccAgaagaagtactttgtggggg					rs4013154		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:2938408_2938410delAGA	ENST00000378404.2	+	1	363_365	c.158_160delAGA	c.(157-162)cagaag>cag	p.K55del		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	55				Missing (in Ref. 5; AAH29499).		cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GAGGCCAACCAGAAGAAGTACTT	0.611													False	2	False	1:2938408	0	-	2938410	AGA	-	2938408	7	5	61	1	0	1	0	1	0	0	0	0	219	188	7	0	160	0	ACTRT2	1	2938408	In_Frame_Del	DEL	AGA	TCGA-HZ-7925-01A-11D-2154-08		2938408	246312213	1	4802											
SPEN	23013	broad.mit.edu	37	chr1	16259132	16259133	+	Frame_Shift_Ins	INS	-	-	TTTTCTC													tccccaaaaggaggatggttINStatcatcccagttgaaaagt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:16259132_16259133insTTTTCTC	ENST00000375759.3	+	11	6601_6602	c.6397_6398insTTTTCTC	c.(6397-6399)ttafs	p.L2133fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2133	Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGGATGGTTTATCATCCCAG	0.564													False	0	True	1:16259132	0	TTTTCTC	16259133	-	TTTTCTC	16259132	7	5	61	1	0	1	1	0	0	0	0	0	15120	1838	64	0	6439	0	SPEN	1	16259132	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	13320724	16259132	232991489	2	4803	48	2									
SPEN	23013	broad.mit.edu	37	chr1	16259134	16259135	+	Frame_Shift_Ins	INS	-	-	CAACT													cccaaaaggaggatggtttaINStcatcccagttgaaaagtga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:16259134_16259135insCAACT	ENST00000375759.3	+	11	6603_6604	c.6399_6400insCAACT	c.(6400-6402)tcafs	p.S2134fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2134	Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGGATGGTTTATCATCCCAGTT	0.559													False	0	False	1:16259134	0	CAACT	16259135	-	CAACT	16259134	7	5	61	1	0	1	1	0	0	0	0	0	15120	446	16	0	6441	0	SPEN	1	16259134	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	16259134	232991487	3	4804	48	2									
ZBTB40	9923	broad.mit.edu	37	chr1	22828135	22828136	+	Frame_Shift_Ins	INS	-	-	CATC													tgcagtaaaaacagcactatINStagacaggaagccagaagat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:22828135_22828136insCATC	ENST00000375647.4	+	4	1189_1190	c.982_983insCATC	c.(982-984)ttafs	p.L328fs	ZBTB40_ENST00000404138.1_Frame_Shift_Ins_p.L328fs|ZBTB40_ENST00000374651.4_Intron	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	328					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AACAGCACTATTAGACAGGAAG	0.426													False	0	False	1:22828135	0	CATC	22828136	-	CATC	22828135	7	5	61	1	0	1	1	0	0	0	0	0	17625	1490	52	0	992	0	ZBTB40	1	22828135	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	6569001	22828135	226422486	4	4805	49	2									
ZBTB40	9923	broad.mit.edu	37	chr1	22828137	22828138	+	Frame_Shift_Ins	INS	-	-	TG													cagtaaaaacagcactattaINSgacaggaagccagaagatgt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:22828137_22828138insTG	ENST00000375647.4	+	4	1191_1192	c.984_985insTG	c.(985-987)gacfs	p.D329fs	ZBTB40_ENST00000404138.1_Frame_Shift_Ins_p.D329fs|ZBTB40_ENST00000374651.4_Intron	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	329					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGCACTATTAGACAGGAAGCC	0.431													False	0	False	1:22828137	0	TG	22828138	-	TG	22828137	7	5	61	1	0	1	1	0	0	0	0	0	17625	417	15	0	994	0	ZBTB40	1	22828137	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	22828137	226422484	5	4806	49	2									
MACF1	23499	broad.mit.edu	37	chr1	39800633	39800634	+	In_Frame_Ins	INS	-	-	TCACTCTCT													aaaatgaatttctaggaaagINSgatatgttaattgcttgtaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:39800633_39800634insTCACTCTCT	ENST00000372915.3	+	36	8475_8476	c.8388_8389insTCACTCTCT	c.(8389-8391)gat>TCACTCTCTgat	p.2796_2797insSLS	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_In_Frame_Ins_p.2828_2829insSLS|MACF1_ENST00000564288.1_In_Frame_Ins_p.2791_2792insSLS|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_In_Frame_Ins_p.1231_1232insSLS|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2796					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTCTAGGAAAGGATATGTTAAT	0.351													False	0	False	1:39800633	0	TCACTCTCT	39800634	-	TCACTCTCT	39800633	7	5	61	1	0	1	1	0	0	0	0	0	9207	991	35	0	8464	0	MACF1	1	39800633	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	16972496	39800633	209449988	6	4807	50	2									
MACF1	23499	broad.mit.edu	37	chr1	39800634	39800635	+	Frame_Shift_Ins	INS	-	-	ATCACTAA													aaatgaatttctaggaaaggINSatatgttaattgcttgtaat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:39800634_39800635insATCACTAA	ENST00000372915.3	+	36	8476_8477	c.8389_8390insATCACTAA	c.(8389-8391)gatfs	p.-2797fs	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.-2829fs|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.-2792fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.-1232fs|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTAGGAAAGGATATGTTAATT	0.356													False	0	False	1:39800634	0	ATCACTAA	39800635	-	ATCACTAA	39800634	7	5	61	1	0	1	1	0	0	0	0	0	9207	1174	41	0	8465	0	MACF1	1	39800634	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	39800634	209449987	7	4808	50	2									
CCDC30	728621	broad.mit.edu	37	chr1	43047133	43047134	+	In_Frame_Ins	INS	-	-	ACATAG													ggaaaagataaaagaagcaaINScacaaaatgaagctaaagta							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:43047133_43047134insACATAG	ENST00000340612.4	+	7	1168_1169	c.1168_1169insACATAG	c.(1168-1170)aca>aACATAGca	p.390_390T>NIA	CCDC30_ENST00000342022.4_In_Frame_Ins_p.390_390T>NIA|CCDC30_ENST00000507855.1_In_Frame_Ins_p.179_179T>NIA|CCDC30_ENST00000390640.4_In_Frame_Ins_p.179_179T>NIA|CCDC30_ENST00000428554.2_In_Frame_Ins_p.390_390T>NIA			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	390										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAAAGAAGCAACACAAAATGAA	0.406													False	0	False	1:43047133	0	ACATAG	43047134	-	ACATAG	43047133	7	5	61	1	0	1	1	0	0	0	0	0	2826	43	2	0	1194	0	CCDC30	1	43047133	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3246499	43047133	206203488	8	4809											
DIO1	1733	broad.mit.edu	37	chr1	54370396	54370397	+	Frame_Shift_Ins	INS	-	-	TTCTGTT													tgaccttcatttatgttcaaINSatttgaccagttcaagaggc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:54370396_54370397insTTCTGTT	ENST00000361921.3	+	2	419_420	c.395_396insTTCTGTT	c.(394-399)aaatttfs	p.KF132fs	DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000322679.6_Frame_Shift_Ins_p.KF132fs|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Frame_Shift_Ins_p.KF68fs|DIO1_ENST00000524406.1_Frame_Shift_Ins_p.KF3fs|DIO1_ENST00000388876.3_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	132					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						TTTATGTTCAAATTTGACCAGT	0.391													False	0	True	1:54370396	0	TTCTGTT	54370397	-	TTCTGTT	54370396	7	5	61	1	0	1	1	0	0	0	0	0	4554	14	1	0	401	0	DIO1	1	54370396	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	11323263	54370396	194880225	9	4810											
IFI44	10561	broad.mit.edu	37	chr1	79116059	79116060	+	In_Frame_Ins	INS	-	-	ATATTTTCCATTAAA													atttatagtgaagatcatatINStattggagcatatgcagaag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:79116059_79116060insATATTTTCCATTAAA	ENST00000370747.4	+	2	264_265	c.179_180insATATTTTCCATTAAA	c.(178-183)attatt>atATATTTTCCATTAAAtatt	p.60_61II>IYFPLNI	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	60					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GAAGATCATATTATTGGAGCAT	0.381													False	0	False	1:79116059	0	ATATTTTCCATTAAA	79116060	-	ATATTTTCCATTAAA	79116059	7	5	61	1	0	1	1	0	0	0	0	0	7567	1493	52	0	181	0	IFI44	1	79116059	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	24745663	79116059	170134562	10	4811											
GBP5	115362	broad.mit.edu	37	chr1	89732190	89732191	+	Frame_Shift_Ins	INS	-	-	TGGATCTCGTG													ttggtgagcaggtaagtcaaINSagataaagcatttctttttt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:89732190_89732191insTGGATCTCGTG	ENST00000370459.3	-	6	833_834	c.706_707insCACGAGATCCA	c.(706-708)tttfs	p.F236fs	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Frame_Shift_Ins_p.F236fs|GBP5_ENST00000481145.1_5'UTR			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	236						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AGGTAAGTCAAAGATAAAGCAT	0.381													False	0	True	1:89732190	0	TGGATCTCGTG	89732191	-	TGGATCTCGTG	89732190	7	5	61	1	0	1	1	0	0	0	0	0	6320	14	1	0	1077	0	GBP5	1	89732190	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	10616131	89732190	159518431	11	4812	51	2									
GBP5	115362	broad.mit.edu	37	chr1	89732192	89732193	+	Frame_Shift_Ins	INS	-	-	TATTATTTTTAGGATTTTCCTTCAATTTAATGTAAACT													ggtgagcaggtaagtcaaagINSataaagcatttcttttttgg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:89732192_89732193insTATTATTTTTAGGATTTTCCTTCAATTTAATGTAAACT	ENST00000370459.3	-	6	831_832	c.704_705insAGTTTACATTAAATTGAAGGAAAATCCTAAAAATAATA	c.(703-705)atcfs	p.-235fs	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Frame_Shift_Ins_p.-235fs|GBP5_ENST00000481145.1_5'UTR			Q96PP8	GBP5_HUMAN	guanylate binding protein 5							plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTAAGTCAAAGATAAAGCATTT	0.371													False	0	False	1:89732192	0	TATTATTTTTAGGATTTTCCTTCAATTTAATGTAAACT	89732193	-	TATTATTTTTAGGATTTTCCTTCAATTTAATGTAAACT	89732192	7	5	61	1	0	1	1	0	0	0	0	0	6320	932	33	0	1079	0	GBP5	1	89732192	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	89732192	159518429	12	4813	51	2									
HFM1	164045	broad.mit.edu	37	chr1	91778989	91778990	+	Translation_Start_Site	INS	-	-	CATTAATAGTATATAGTAGA													ttttctttgcatagtgatttINSgatttccaaacctcttgggt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:91778989_91778990insCATTAATAGTATATAGTAGA	ENST00000462405.1	-	0	1232_1233				HFM1_ENST00000294696.5_Frame_Shift_Ins_p.Q335fs|HFM1_ENST00000370425.3_Frame_Shift_Ins_p.Q1103fs|HFM1_ENST00000370424.3_Frame_Shift_Ins_p.Q782fs			A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)								ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CATAGTGATTTGATTTCCAAAC	0.317													False	0	True	1:91778989	0	CATTAATAGTATATAGTAGA	91778990	-	CATTAATAGTATATAGTAGA	91778989	6	5	61	1	0	1	1	0	0	0	0	0	7130	1812	63	0		0	HFM1	1	91778989	Translation_Start_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2046797	91778989	157471632	13	4814											
CDC7	8317	broad.mit.edu	37	chr1	91978733	91978734	+	Frame_Shift_Ins	INS	-	-	AAACTGTAATTCTTTT													acaaaacaaatcccacataaINStcacaggaaacaagattcca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:91978733_91978734insAAACTGTAATTCTTTT	ENST00000428239.1	+	7	950_951	c.691_692insAAACTGTAATTCTTTT	c.(691-693)atcfs	p.I231fs	CDC7_ENST00000430031.2_Frame_Shift_Ins_p.I203fs|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.I231fs	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	231	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		ATCCCACATAATCACAGGAAAC	0.441													False	0	False	1:91978733	0	AAACTGTAATTCTTTT	91978734	-	AAACTGTAATTCTTTT	91978733	7	5	61	1	0	1	1	0	0	0	0	0	3107	101	4	0	713	0	CDC7	1	91978733	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	199744	91978733	157271888	14	4815											
CCDC18	343099	broad.mit.edu	37	chr1	93659267	93659268	+	In_Frame_Ins	INS	-	-	ATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTA													ggaatgtataaaattaaaggINStggacttacttgaacaaacc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:93659267_93659268insATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTA	ENST00000343253.7	+	6	1166_1167	c.664_665insATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTA	c.(664-666)gtg>gATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTAtg	p.222_222V>DTLFKTTKEIIPGM	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_In_Frame_Ins_p.340_340V>DTLFKTTKEIIPGM|CCDC18_ENST00000401026.3_In_Frame_Ins_p.222_222V>DTLFKTTKEIIPGM|CCDC18_ENST00000338949.4_In_Frame_Ins_p.21_21V>DTLFKTTKEIIPGM			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	222										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAAATTAAAGGTGGACTTACTT	0.317													False	0	False	1:93659267	0	ATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTA	93659268	-	ATACTTTGTTTAAGACTACTAAAGAGATTATCCCAGGTA	93659267	7	5	61	1	0	1	1	0	0	0	0	0	2815	1261	44	0	1040	0	CCDC18	1	93659267	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1680534	93659267	155591354	15	4816											
WDR47	22911	broad.mit.edu	37	chr1	109538340	109538341	+	Frame_Shift_Ins	INS	-	-	GAAATATTAACTTACTACTAATGGT													gggtggtgtagtaaaactagINStcacagaagaaccattagat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:109538340_109538341insGAAATATTAACTTACTACTAATGGT	ENST00000369965.4	-	8	1815_1816	c.1555_1556insACCATTAGTAGTAAGTTAATATTTC	c.(1555-1557)actfs	p.T519fs	WDR47_ENST00000400794.3_Frame_Shift_Ins_p.T526fs|WDR47_ENST00000369962.3_Frame_Shift_Ins_p.T518fs|WDR47_ENST00000361054.3_Frame_Shift_Ins_p.T490fs|WDR47_ENST00000357672.3_Frame_Shift_Ins_p.T490fs	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN	WD repeat domain 47	518										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGTAAAACTAGTCACAGAAGAA	0.401													False	0	False	1:109538340	0	GAAATATTAACTTACTACTAATGGT	109538341	-	GAAATATTAACTTACTACTAATGGT	109538340	7	5	61	1	0	1	1	0	0	0	0	0	17384	1029	36	0	1238	0	WDR47	1	109538340	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	15879073	109538340	139712281	16	4817											
CHIA	27159	broad.mit.edu	37	chr1	111860714	111860715	+	Frame_Shift_Ins	INS	-	-	GTTTGAAGAT													cccgactgacaccggcagcaINSacgcctacctcaatgtggtg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:111860714_111860715insGTTTGAAGAT	ENST00000369740.1	+	8	815_816	c.712_713insGTTTGAAGAT	c.(712-714)aacfs	p.N238fs	CHIA_ENST00000483391.1_Frame_Shift_Ins_p.N77fs|CHIA_ENST00000353665.6_Frame_Shift_Ins_p.N77fs|CHIA_ENST00000343320.6_Frame_Shift_Ins_p.N238fs|CHIA_ENST00000451398.2_Frame_Shift_Ins_p.N77fs|CHIA_ENST00000430615.1_Frame_Shift_Ins_p.N130fs|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	238					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CACCGGCAGCAACGCCTACCTC	0.51													False	0	False	1:111860714	0	GTTTGAAGAT	111860715	-	GTTTGAAGAT	111860714	7	5	61	1	0	1	1	0	0	0	0	0	3365	130	5	0	738	0	CHIA	1	111860714	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2322374	111860714	137389907	17	4818											
SYCP1	6847	broad.mit.edu	37	chr1	115401257	115401258	+	Frame_Shift_Ins	INS	-	-	AAAATATCCAT													taagtacagaagctgaactgINSagacagaaagaaagtaagtt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:115401257_115401258insAAAATATCCAT	ENST00000369522.3	+	6	621_622	c.381_382insAAAATATCCAT	c.(382-384)agafs	p.R128fs	SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.R128fs	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	128					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGCTGAACTGAGACAGAAAGA	0.342													False	0	False	1:115401257	0	AAAATATCCAT	115401258	-	AAAATATCCAT	115401257	7	5	61	1	0	1	1	0	0	0	0	0	15513	1277	45	0	399	0	SYCP1	1	115401257	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3540543	115401257	133849364	18	4819											
POGZ	23126	broad.mit.edu	37	chr1	151400880	151400881	+	Frame_Shift_Ins	INS	-	-	GCAAC													tgtcggcttaacaaactgggINStacctggggctttaaaagag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:151400880_151400881insGCAAC	ENST00000271715.2	-	6	891_892	c.577_578insGTTGC	c.(577-579)accfs	p.T193fs	POGZ_ENST00000392723.1_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000361398.3_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000409503.1_Frame_Shift_Ins_p.T193fs|POGZ_ENST00000368863.2_Frame_Shift_Ins_p.T98fs|POGZ_ENST00000491586.1_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000531094.1_Frame_Shift_Ins_p.T140fs|POGZ_ENST00000540984.1_Intron	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	193					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AACAAACTGGGTACCTGGGGCT	0.5													False	0	True	1:151400880	0	GCAAC	151400881	-	GCAAC	151400880	7	5	61	1	0	1	1	0	0	0	0	0	12255	1261	44	0	3724	0	POGZ	1	151400880	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	35999623	151400880	97849741	19	4820											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	61	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-HZ-7925-01A-11D-2154-08	1270635	152671515	96579106	20	4821											
ASH1L	55870	broad.mit.edu	37	chr1	155447927	155447928	+	In_Frame_Ins	INS	-	-	GACACT													ttggagaactttctgaacagINStcaatctgtaaaggtgtctg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:155447927_155447928insGACACT	ENST00000368346.3	-	3	5372_5373	c.4733_4734insAGTGTC	c.(4732-4734)gac>gaAGTGTCc	p.1578_1578D>EVS	ASH1L_ENST00000392403.3_In_Frame_Ins_p.1578_1578D>EVS			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1578					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCTGAACAGTCAATCTGTAA	0.455													False	0	False	1:155447927	0	GACACT	155447928	-	GACACT	155447927	7	5	61	1	0	1	1	0	0	0	0	0	1045	1020	36	0	4264	0	ASH1L	1	155447927	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2776412	155447927	93802694	21	4822											
IGSF8	93185	broad.mit.edu	37	chr1	160062127	160062128	+	In_Frame_Ins	INS	-	-	TATCTCTCTCCTCCA													gggcactgcccgcctggtacINScagctgtagtcggcatgctg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:160062127_160062128insTATCTCTCTCCTCCA	ENST00000368086.1	-	5	1886_1887	c.1670_1671insTGGAGGAGAGAGATA	c.(1669-1671)tgg>tgTGGAGGAGAGAGATAg	p.557_557W>CGGER*	IGSF8_ENST00000314485.7_In_Frame_Ins_p.557_557W>CGGER*			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	557	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCGCCTGGTACCAGCTGTAGTC	0.644													False	0	False	1:160062127	0	TATCTCTCTCCTCCA	160062128	-	TATCTCTCTCCTCCA	160062127	7	5	61	1	0	1	1	0	0	0	0	0	7654	508	18	0	178	0	IGSF8	1	160062127	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	4614200	160062127	89188494	22	4823											
C1orf112	55732	broad.mit.edu	37	chr1	169822098	169822100	+	In_Frame_Del	DEL	GCT	GCT	-													ctccaagaaaggatggataaGctaaaacgttacatacatac							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	GCT	GCT	-	-	GCT	GCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:169822098_169822100delGCT	ENST00000286031.6	+	24	3232_3234	c.2532_2534delGCT	c.(2530-2535)aagcta>aaa	p.L845del	C1orf112_ENST00000359326.4_In_Frame_Del_p.L845del|C1orf112_ENST00000498289.1_3'UTR|SCYL3_ENST00000367772.4_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	845										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGATGGATAAGCTAAAACGTTAC	0.433													False	1	False	1:169822098	0	-	169822100	GCT	-	169822098	7	5	61	1	0	1	0	1	0	0	0	0	2000	962	34	0	2618	0	C1orf112	1	169822098	In_Frame_Del	DEL	GCT	TCGA-HZ-7925-01A-11D-2154-08	9759971	169822098	79428523	23	4824											
KLHL20	27252	broad.mit.edu	37	chr1	173726276	173726277	+	In_Frame_Ins	INS	-	-	ATC													aggaggccatgatggatcctINScttatctcaatagtgttgaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:173726276_173726277insATC	ENST00000209884.4	+	7	1265_1266	c.1129_1130insATC	c.(1129-1131)tct>tATCct	p.377_377S>YP	KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_188S>YP	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	377					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGATGGATCCTCTTATCTCAAT	0.371													False	0	False	1:173726276	0	ATC	173726277	-	ATC	173726276	7	5	61	1	0	1	1	0	0	0	0	0	8425	1551	54	0	1151	0	KLHL20	1	173726276	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3904178	173726276	75524345	24	4825	52	2									
KLHL20	27252	broad.mit.edu	37	chr1	173726278	173726279	+	In_Frame_Ins	INS	-	-	GAAGCA													gaggccatgatggatcctctINStatctcaatagtgttgaaag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:173726278_173726279insGAAGCA	ENST00000209884.4	+	7	1267_1268	c.1131_1132insGAAGCA	c.(1132-1134)tat>GAAGCAtat	p.377_378insEA	KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_189insEA	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	377					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ATGGATCCTCTTATCTCAATAG	0.366													False	0	False	1:173726278	0	GAAGCA	173726279	-	GAAGCA	173726278	7	5	61	1	0	1	1	0	0	0	0	0	8425	1596	56	0	1153	0	KLHL20	1	173726278	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	173726278	75524343	25	4826	52	2									
CENPL	91687	broad.mit.edu	37	chr1	173776634	173776635	+	In_Frame_Ins	INS	-	-	AGGGAC													tttatgcagaaggaatgcaaINSccttttgagggtcaacatct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:173776634_173776635insAGGGAC	ENST00000356198.2	-	4	475_476	c.190_191insGTCCCT	c.(190-192)gtt>gGTCCCTtt	p.64_64V>GPF	CENPL_ENST00000345664.6_In_Frame_Ins_p.64_64V>GPF|CENPL_ENST00000367710.3_In_Frame_Ins_p.64_64V>GPF	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	64					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AAGGAATGCAACCTTTTGAGGG	0.287													False	0	False	1:173776634	0	AGGGAC	173776635	-	AGGGAC	173776634	7	5	61	1	0	1	1	0	0	0	0	0	3259	43	2	0	997	0	CENPL	1	173776634	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	50356	173776634	75473987	26	4827											
MR1	3140	broad.mit.edu	37	chr1	181019221	181019222	+	Frame_Shift_Ins	INS	-	-	TCAC													cacaggatttctgcagtatgINScatatgacgggcaggatttc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:181019221_181019222insTCAC	ENST00000367580.5	+	3	408_409	c.403_404insTCAC	c.(403-405)gcafs	p.A135fs	MR1_ENST00000434571.2_Frame_Shift_Ins_p.A135fs|MR1_ENST00000282990.6_Frame_Shift_Ins_p.A135fs|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	135	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						TCTGCAGTATGCATATGACGGG	0.515													False	0	False	1:181019221	0	TCAC	181019222	-	TCAC	181019221	7	5	61	1	0	1	1	0	0	0	0	0	9819	1319	46	0	413	0	MR1	1	181019221	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	7242587	181019221	68231400	27	4828											
ATP2B4	493	broad.mit.edu	37	chr1	203690411	203690412	+	Frame_Shift_Ins	INS	-	-	AG													ccctggccacagagccccctINSacggaatctctgttgaagcg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:203690411_203690412insAG	ENST00000357681.5	+	17	3808_3809	c.2685_2686insAG	c.(2686-2688)acgfs	p.T896fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T884fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T896fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T896fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T896fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	896					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGAGCCCCCTACGGAATCTCT	0.515													False	0	False	1:203690411	0	AG	203690412	-	AG	203690411	7	5	61	1	0	1	1	0	0	0	0	0	1146	1509	53	0	2747	0	ATP2B4	1	203690411	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	22671190	203690411	45560210	28	4829	53	2									
ATP2B4	493	broad.mit.edu	37	chr1	203690413	203690414	+	Frame_Shift_Ins	INS	-	-	TT													ctggccacagagccccctacINSggaatctctgttgaagcggc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:203690413_203690414insTT	ENST00000357681.5	+	17	3810_3811	c.2687_2688insTT	c.(2686-2691)acggaafs	p.E897fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.E885fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.E897fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.E897fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.E897fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	897					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGCCCCCTACGGAATCTCTGT	0.515													False	0	False	1:203690413	0	TT	203690414	-	TT	203690413	7	5	61	1	0	1	1	0	0	0	0	0	1146	536	19	0	2749	0	ATP2B4	1	203690413	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	203690413	45560208	29	4830	53	2									
ZC3H11A	9877	broad.mit.edu	37	chr1	203798664	203798664	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaacaaattgtctgtccaGtccaatccttcccctcagct	5	15	2	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:203798664G>T	ENST00000545588.1	+	5	4211	c.384G>T	c.(382-384)caG>caT	p.Q128H	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q128H|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q128H	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	128							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTCTGTCCAGTCCAATCCTT	0.478													False	0	True	1:203798664	0	T	203798664	G	T	203798664	3	4	61	1	0	0	0	0	1	0	0	0	17643	1020	36	3	398	3	ZC3H11A	1	203798664	Missense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	108251	203798664	45451957	30	4831											
C4BPB	725	broad.mit.edu	37	chr1	207265131	207265132	+	Frame_Shift_Ins	INS	-	-	TGAAGAAGAAAATA													gccagtgtctagaggaccacINSacctgggcacctccctttcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:207265131_207265132insTGAAGAAGAAAATA	ENST00000243611.5	+	3	669_670	c.375_376insTGAAGAAGAAAATA	c.(376-378)accfs	p.T126fs	C4BPB_ENST00000451804.2_Frame_Shift_Ins_p.T116fs|C4BPB_ENST00000391923.1_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000367078.3_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000367076.3_Frame_Shift_Ins_p.T125fs	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	126	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						TAGAGGACCACACCTGGGCACC	0.45													False	0	False	1:207265131	0	TGAAGAAGAAAATA	207265132	-	TGAAGAAGAAAATA	207265131	7	5	61	1	0	1	1	0	0	0	0	0	2267	477	17	0	385	0	C4BPB	1	207265131	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3466467	207265131	41985490	31	4832											
CAMK1G	57172	broad.mit.edu	37	chr1	209779732	209779733	+	Frame_Shift_Ins	INS	-	-	TTGTAAA													atcactgactttggtctgtcINScaagatggaacagaatggca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:209779732_209779733insTTGTAAA	ENST00000009105.1	+	6	748_749	c.503_504insTTGTAAA	c.(502-507)tccaagfs	p.K169fs	CAMK1G_ENST00000361322.2_Frame_Shift_Ins_p.K169fs			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	169	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TTTGGTCTGTCCAAGATGGAAC	0.475													False	0	False	1:209779732	0	TTGTAAA	209779733	-	TTGTAAA	209779732	7	5	61	1	0	1	1	0	0	0	0	0	2618	855	30	0	521	0	CAMK1G	1	209779732	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2514601	209779732	39470889	32	4833											
KCNH1	3756	broad.mit.edu	37	chr1	211256132	211256132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccttacctctgccaggCgggagtgcttgtggacattc	12	12	1	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:211256132C>T	ENST00000367007.4	-	5	717	c.548G>A	c.(547-549)cGc>cAc	p.R183H	KCNH1_ENST00000271751.4_Missense_Mutation_p.R183H	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	183					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCTGCCAGGCGGGAGTGCTT	0.547													False	0	True	1:211256132	0	T	211256132	C	T	211256132	3	4	61	1	0	0	0	0	1	0	0	0	8081	768	27	1	2449	1	KCNH1	1	211256132	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	1476400	211256132	37994489	33	4834											
USH2A	7399	broad.mit.edu	37	chr1	216498693	216498693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatagtcactccttgaTtaagctgtgtaatgtttgta	8	6	1	2			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:216498693T>C	ENST00000366943.2	-	6	1483	c.1097A>G	c.(1096-1098)aAt>aGt	p.N366S	USH2A_ENST00000366942.3_Missense_Mutation_p.N366S|USH2A_ENST00000307340.3_Missense_Mutation_p.N366S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	366	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTCCTTGATTAAGCTGTGT	0.363										HNSCC(13;0.011)			False	0	False	1:216498693	0	C	216498693	T	C	216498693	3	2	61	1	0	0	0	0	1	0	0	0	17120	1493	52	4	14793	4	USH2A	1	216498693	Missense_Mutation	SNP	T	TCGA-HZ-7925-01A-11D-2154-08	5242561	216498693	32751928	34	4835											
SUSD4	55061	broad.mit.edu	37	chr1	223408416	223408417	+	Frame_Shift_Ins	INS	-	-	GTTTGAATTAAACATTCCATTTTTATCCT													atgtgtgggaaataaaggacINSagggaaaagatgttcaggtc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:223408416_223408417insGTTTGAATTAAACATTCCATTTTTATCCT	ENST00000344029.6	-	6	895_896	c.750_751insAGGATAAAAATGGAATGTTTAATTCAAAC	c.(748-753)cctgtcfs	p.V251fs	SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000343846.3_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000478605.1_Intron	NM_001037175.2	NP_001032252.1	Q5VX71	SUSD4_HUMAN	sushi domain containing 4	0	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AAATAAAGGACAGGGAAAAGAT	0.406													False	0	True	1:223408416	0	GTTTGAATTAAACATTCCATTTTTATCCT	223408417	-	GTTTGAATTAAACATTCCATTTTTATCCT	223408416	7	5	61	1	0	1	1	0	0	0	0	0	15492	478	17	0	890	0	SUSD4	1	223408416	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	6909723	223408416	25842205	35	4836											
H3F3A	3020	broad.mit.edu	37	chr1	226252133	226252134	+	Frame_Shift_Ins	INS	-	-	CAAATCTGGAAATTATGATCAGTATAAAA													tggctacaaaagccgctcgcINSaagagtgcgccctctactgg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:226252133_226252134insCAAATCTGGAAATTATGATCAGTATAAAA	ENST00000366814.3	+	2	202_203	c.81_82insCAAATCTGGAAATTATGATCAGTATAAAA	c.(82-84)aagfs	p.-27fs	H3F3A_ENST00000366813.1_Frame_Shift_Ins_p.-27fs|H3F3A_ENST00000366816.1_Frame_Shift_Ins_p.-27fs|H3F3A_ENST00000366815.3_Frame_Shift_Ins_p.-27fs					H3 histone, family 3A											central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		AAGCCGCTCGCAAGAGTGCGCC	0.485			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:226252133	0	CAAATCTGGAAATTATGATCAGTATAAAA	226252134	-	CAAATCTGGAAATTATGATCAGTATAAAA	226252133	7	5	61	1	0	1	1	0	0	0	0	0	6980	697	25	0	83	0	H3F3A	1	226252133	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2843717	226252133	22998488	36	4837											
ZNF678	339500	broad.mit.edu	37	chr1	227842194	227842195	+	In_Frame_Ins	INS	-	-	ATAAAAATAAAAAGTTATTCTTCT													aaggtaaggggcagaaagaaINStattgcaatagacttactca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:227842194_227842195insATAAAAATAAAAAGTTATTCTTCT	ENST00000343776.4	+	4	588_589	c.243_244insATAAAAATAAAAAGTTATTCTTCT	c.(244-246)tat>ATAAAAATAAAAAGTTATTCTTCTtat	p.81_82insIKIKSYSS	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_In_Frame_Ins_p.136_137insIKIKSYSS			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	136					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GGCAGAAAGAATATTGCAATAG	0.386													False	0	True	1:227842194	0	ATAAAAATAAAAAGTTATTCTTCT	227842195	-	ATAAAAATAAAAAGTTATTCTTCT	227842194	7	5	61	1	0	1	1	0	0	0	0	0	18168	98	4	0	422	0	ZNF678	1	227842194	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1590061	227842194	21408427	37	4838											
DISC1	27185	broad.mit.edu	37	chr1	231830345	231830345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagacttggcccaggccGcaaggaacagctccaggcca	12	15	0	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:231830345G>A	ENST00000439617.2	+	2	894	c.841G>A	c.(841-843)Gca>Aca	p.A281T	DISC1_ENST00000539444.1_Missense_Mutation_p.A281T|DISC1_ENST00000535983.1_Missense_Mutation_p.A281T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.A281T|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000317586.4_Missense_Mutation_p.A281T|DISC1_ENST00000602281.1_Missense_Mutation_p.A281T|DISC1_ENST00000366636.4_Missense_Mutation_p.A281T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Missense_Mutation_p.A281T	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	281	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCCCAGGCCGCAAGGAACAG	0.612													False	0	False	1:231830345	0	A	231830345	G	A	231830345	3	1	61	1	0	0	0	0	1	0	0	0	4568	1087	38	1	847	1	DISC1	1	231830345	Missense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	3988151	231830345	17420276	38	4839											
RYR2	6262	broad.mit.edu	37	chr1	237789076	237789077	+	Frame_Shift_Ins	INS	-	-	AATATTTAAAGAATACACTTGGGCAAATAATTCTGAGGCCTTGTAATTT													agaagaagcaagcagaaaaaINSccagttgagagtgactccaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:237789076_237789077insAATATTTAAAGAATACACTTGGGCAAATAATTCTGAGGCCTTGTAATTT	ENST00000366574.2	+	40	6455_6456	c.6138_6139insAATATTTAAAGAATACACTTGGGCAAATAATTCTGAGGCCTTGTAATTT	c.(6139-6141)ccafs	p.P2047fs	RYR2_ENST00000360064.6_Frame_Shift_Ins_p.P2045fs|RYR2_ENST00000542537.1_Frame_Shift_Ins_p.P2031fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2047	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGCAGAAAAACCAGTTGAGAG	0.431													False	0	True	1:237789076	0	AATATTTAAAGAATACACTTGGGCAAATAATTCTGAGGCCTTGTAATTT	237789077	-	AATATTTAAAGAATACACTTGGGCAAATAATTCTGAGGCCTTGTAATTT	237789076	7	5	61	1	0	1	1	0	0	0	0	0	13848	40	2	0	6296	0	RYR2	1	237789076	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	5958731	237789076	11461545	39	4840											
OPN3	23596	broad.mit.edu	37	chr1	241761207	241761208	+	In_Frame_Ins	INS	-	-	CTTTGC													tccaacagaccaggaaggtgINSaatatcattaaaaagcacat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:241761207_241761208insCTTTGC	ENST00000366554.2	-	3	891_892	c.785_786insGCAAAG	c.(784-786)ttc>ttGCAAAGc	p.262_262F>LQS	OPN3_ENST00000331838.5_In_Frame_Ins_p.183_183F>LQS|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	262					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCAGGAAGGTGAATATCATTAA	0.386													False	0	False	1:241761207	0	CTTTGC	241761208	-	CTTTGC	241761207	7	5	61	1	0	1	1	0	0	0	0	0	10949	1281	45	0	430	0	OPN3	1	241761207	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3972131	241761207	7489414	40	4841											
WDR64	128025	broad.mit.edu	37	chr1	241913019	241913020	+	Frame_Shift_Ins	INS	-	-	CTTAGAGAAAGCTTGGCTT													caacgggactatcaaaatgaINStccaggtttacaatcccact							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:241913019_241913020insCTTAGAGAAAGCTTGGCTT	ENST00000366552.2	+	13	1942_1943	c.1735_1736insCTTAGAGAAAGCTTGGCTT	c.(1735-1737)atcfs	p.I579fs	WDR64_ENST00000437684.2_Frame_Shift_Ins_p.I579fs	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	579										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TATCAAAATGATCCAGGTTTAC	0.51													False	0	False	1:241913019	0	CTTAGAGAAAGCTTGGCTT	241913020	-	CTTAGAGAAAGCTTGGCTT	241913019	7	5	61	1	0	1	1	0	0	0	0	0	17399	333	12	0	1785	0	WDR64	1	241913019	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	151812	241913019	7337602	41	4842											
TRIM58	25893	broad.mit.edu	37	chr1	248039551	248039552	+	Frame_Shift_Ins	INS	-	-	CCCAGTAATG													ctcttctccaactggaaagtINScctcgctgcattgggatttt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:248039551_248039552insCCCAGTAATG	ENST00000366481.3	+	6	1269_1270	c.1221_1222insCCCAGTAATG	c.(1222-1224)cctfs	p.-408fs	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58							intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACTGGAAAGTCCTCGCTGCAT	0.485													False	0	False	1:248039551	0	CCCAGTAATG	248039552	-	CCCAGTAATG	248039551	7	5	61	1	0	1	1	0	0	0	0	0	16614	1664	58	0	1243	0	TRIM58	1	248039551	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	6126532	248039551	1211070	42	4843											
OR2W3	343171	broad.mit.edu	37	chr1	248059353	248059355	+	In_Frame_Del	DEL	CTC	CTC	-													tggggctgtggggtggccaaCtccttggccatgtctcctgt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr1:248059353_248059355delCTC	ENST00000360358.3	+	1	465_467	c.465_467delCTC	c.(463-468)aactcc>aac	p.S156del	OR2W3_ENST00000537741.1_In_Frame_Del_p.S156del	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S156F(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGTGGCCAACTCCTTGGCCATG	0.64													False	1	False	1:248059353	0	-	248059355	CTC	-	248059353	7	5	61	1	0	1	0	1	0	0	0	0	11101	564	20	0	467	0	OR2W3	1	248059353	In_Frame_Del	DEL	CTC	TCGA-HZ-7925-01A-11D-2154-08	19802	248059353	1191268	43	4844											
GEN1	348654	broad.mit.edu	37	chr2	17941373	17941374	+	Splice_Site	INS	-	-	GATTATCTGCTGTTATGTGAAACACACTTTACAAA													catgaagccccacctcaggtINSatagtaaaagctcttacagt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:17941373_17941374insGATTATCTGCTGTTATGTGAAACACACTTTACAAA	ENST00000381254.2	+	2	375		c.e2+2		GEN1_ENST00000317402.7_Splice_Site|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease						DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCACCTCAGGTATAGTAAAAGC	0.376								Homologous recombination					False	0	False	2:17941373	0	GATTATCTGCTGTTATGTGAAACACACTTTACAAA	17941374	-	GATTATCTGCTGTTATGTGAAACACACTTTACAAA	17941373	8	5	61	1	0	1	1	0	0	0	1	0	6380	1652	57	0	165	0	GEN1	2	17941373	Splice_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08		17941373	225258000	44	4845											
ITSN2	50618	broad.mit.edu	37	chr2	24533465	24533466	+	Frame_Shift_Ins	INS	-	-	TACTTTGTTTCTAAAGAGTCATTATTTCATGTAAA													agtgggcatcattaagggagINSgaaggttggtccctgaagtc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:24533465_24533466insTACTTTGTTTCTAAAGAGTCATTATTTCATGTAAA	ENST00000355123.4	-	6	891_892	c.448_449insTTTACATGAAATAATGACTCTTTAGAAACAAAGTA	c.(448-450)cctfs	p.P150fs	ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.P150fs|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.P150fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	150					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTAAGGGAGGAAGGTTGGTC	0.48													False	0	False	2:24533465	0	TACTTTGTTTCTAAAGAGTCATTATTTCATGTAAA	24533466	-	TACTTTGTTTCTAAAGAGTCATTATTTCATGTAAA	24533465	7	5	61	1	0	1	1	0	0	0	0	0	7977	1000	35	0	4835	0	ITSN2	2	24533465	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	6592092	24533465	218665908	45	4846											
SNX17	9784	broad.mit.edu	37	chr2	27598008	27598009	+	Frame_Shift_Ins	INS	-	-	CTTGATCTTGTCAGCT													aatctctgcaagagaaagtcINStccaagaaggaggtgagccc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:27598008_27598009insCTTGATCTTGTCAGCT	ENST00000233575.2	+	9	984_985	c.762_763insCTTGATCTTGTCAGCT	c.(763-765)tccfs	p.S255fs	SNX17_ENST00000543024.1_Frame_Shift_Ins_p.S41fs|SNX17_ENST00000542478.1_Frame_Shift_Ins_p.S41fs|SNX17_ENST00000537606.1_Frame_Shift_Ins_p.S230fs	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	255					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGAAAGTCTCCAAGAAGGA	0.535													False	0	False	2:27598008	0	CTTGATCTTGTCAGCT	27598009	-	CTTGATCTTGTCAGCT	27598008	7	5	61	1	0	1	1	0	0	0	0	0	14968	900	32	0	796	0	SNX17	2	27598008	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3064543	27598008	215601365	46	4847											
PPM1B	5495	broad.mit.edu	37	chr2	44428513	44428514	+	Frame_Shift_Ins	INS	-	-	TGGGTTTATCCAAAAATGCACCC													ctggtcattttttgcagtttINSatgatggtcatgctggatcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:44428513_44428514insTGGGTTTATCCAAAAATGCACCC	ENST00000378551.2	+	2	587_588	c.175_176insTGGGTTTATCCAAAAATGCACCC	c.(175-177)tatfs	p.Y59fs	PPM1B_ENST00000409895.4_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000409432.3_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000282412.4_Frame_Shift_Ins_p.Y59fs	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	59					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTTGCAGTTTATGATGGTCAT	0.45													False	0	True	2:44428513	0	TGGGTTTATCCAAAAATGCACCC	44428514	-	TGGGTTTATCCAAAAATGCACCC	44428513	7	5	61	1	0	1	1	0	0	0	0	0	12410	1754	61	0	177	0	PPM1B	2	44428513	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	16830505	44428513	198770860	47	4848											
AFTPH	54812	broad.mit.edu	37	chr2	64780441	64780442	+	Frame_Shift_Ins	INS	-	-	GTCCAATCTC													cacataggacagatgaaaatINSattgatactccaggaacccc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:64780441_64780442insGTCCAATCTC	ENST00000238856.4	+	2	2147_2148	c.1833_1834insGTCCAATCTC	c.(1834-1836)attfs	p.I612fs	AFTPH_ENST00000238855.7_Frame_Shift_Ins_p.I612fs|AFTPH_ENST00000409933.1_Frame_Shift_Ins_p.I612fs|AFTPH_ENST00000422803.1_Frame_Shift_Ins_p.I612fs|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Frame_Shift_Ins_p.I243fs	NM_001002243.2|NM_017657.4	NP_001002243.1|NP_060127.3	Q6ULP2	AFTIN_HUMAN	aftiphilin	612					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CAGATGAAAATATTGATACTCC	0.455													False	0	False	2:64780441	0	GTCCAATCTC	64780442	-	GTCCAATCTC	64780441	7	5	61	1	0	1	1	0	0	0	0	0	364	1403	49	0	1835	0	AFTPH	2	64780441	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	20351928	64780441	178418932	48	4849											
PTCD3	55037	broad.mit.edu	37	chr2	86364188	86364189	+	Frame_Shift_Ins	INS	-	-	ATCCAGTGTAAGTTCAGTAACAGAA													gaagtagtagagctggcaagINStgccttcagcttacctattt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:86364188_86364189insATCCAGTGTAAGTTCAGTAACAGAA	ENST00000254630.7	+	23	1970_1971	c.1904_1905insATCCAGTGTAAGTTCAGTAACAGAA	c.(1903-1908)agtgccfs	p.SA635fs		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	635						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAGCTGGCAAGTGCCTTCAGCT	0.446													False	0	False	2:86364188	0	ATCCAGTGTAAGTTCAGTAACAGAA	86364189	-	ATCCAGTGTAAGTTCAGTAACAGAA	86364188	7	5	61	1	0	1	1	0	0	0	0	0	12805	1029	36	0	1994	0	PTCD3	2	86364188	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	21583747	86364188	156835185	49	4850											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	61	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-HZ-7925-01A-11D-2154-08	11483177	97847365	145352008	50	4851											
TTL	150465	broad.mit.edu	37	chr2	113260636	113260637	+	In_Frame_Ins	INS	-	-	TTTCTGCATATTATATAC													ttcaaaaagagtattcaaagINSaactacgggaagtatgaaga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:113260636_113260637insTTTCTGCATATTATATAC	ENST00000233336.5	+	5	944_945	c.753_754insTTTCTGCATATTATATAC	c.(754-756)aac>TTTCTGCATATTATATACaac	p.251_252insFLHIIY		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	251	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGTATTCAAAGAACTACGGGAA	0.376			T	ETV6	ALL								False	0	False	2:113260636	0	TTTCTGCATATTATATAC	113260637	-	TTTCTGCATATTATATAC	113260636	7	5	61	1	0	1	1	0	0	0	0	0	16805	933	33	0	771	0	TTL	2	113260636	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	15413271	113260636	129938737	51	4852											
NCKAP5	344148	broad.mit.edu	37	chr2	133542683	133542683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgcggccatggccttgGccctgtgggcccctctccct	12	18	1	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:133542683G>A	ENST00000409261.1	-	14	2074	c.1701C>T	c.(1699-1701)ggC>ggT	p.G567G	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.G567G	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	567							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CATGGCCTTGGCCCTGTGGGC	0.542													False	0	True	2:133542683	0	A	133542683	G	A	133542683	2	1	61	1	0	0	0	0	0	0	0	1	10291	1190	42	2		2	NCKAP5	2	133542683	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	20282047	133542683	109656690	52	4853											
ZRANB3	84083	broad.mit.edu	37	chr2	136071173	136071174	+	Frame_Shift_Ins	INS	-	-	G													cttcaaagctggtattcaatINStcctatgtgggaaaaaataa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:136071173_136071174insG	ENST00000401392.1	-	8	1063_1064	c.851_852insC	c.(850-852)gaafs	p.E284fs	ZRANB3_ENST00000536680.1_Frame_Shift_Ins_p.E284fs|ZRANB3_ENST00000264159.6_Frame_Shift_Ins_p.E284fs			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	284						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGGTATTCAATTCCTATGTGGG	0.342													False	0	False	2:136071173	0	G	136071174	-	G	136071173	7	5	61	1	0	1	1	0	0	0	0	0	18306	1490	52	0	2443	0	ZRANB3	2	136071173	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2528490	136071173	107128200	53	4854	54	2									
ZRANB3	84083	broad.mit.edu	37	chr2	136071175	136071176	+	Splice_Site	INS	-	-	TTTTACTGTTTTTAATTAAGCAAGTTATTTATATATTGCAGAATTT													tcaaagctggtattcaattcINSctatgtgggaaaaaataaca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:136071175_136071176insTTTTACTGTTTTTAATTAAGCAAGTTATTTATATATTGCAGAATTT	ENST00000401392.1	-	8	1062	c.850_850insAAATTCTGCAATATATAAATAACTTGCTTAATTAAAAACAGTAAAA	c.(850-852)gaa>AAATTCTGCAATATATAAATAACTTGCTTAATTAAAAACAGTAAAAgaa	p.E284fs	ZRANB3_ENST00000536680.1_Splice_Site_p.E284fs|ZRANB3_ENST00000264159.6_Splice_Site_p.E284fs			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	284						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTATTCAATTCCTATGTGGGAA	0.342													False	0	False	2:136071175	0	TTTTACTGTTTTTAATTAAGCAAGTTATTTATATATTGCAGAATTT	136071176	-	TTTTACTGTTTTTAATTAAGCAAGTTATTTATATATTGCAGAATTT	136071175	8	5	61	1	0	1	1	0	0	0	1	0	18306	869	30	0	2445	0	ZRANB3	2	136071175	Splice_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	136071175	107128198	54	4855	54	2									
UBXN4	23190	broad.mit.edu	37	chr2	136540358	136540359	+	Frame_Shift_Ins	INS	-	-	CATTATATCTACTAACACA													tgctggaaaaacgtggagacINSgactttaaaaaggaggggaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:136540358_136540359insCATTATATCTACTAACACA	ENST00000272638.9	+	13	1739_1740	c.1428_1429insCATTATATCTACTAACACA	c.(1429-1431)gacfs	p.D477fs	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	477					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACGTGGAGACGACTTTAAAAA	0.371													False	0	False	2:136540358	0	CATTATATCTACTAACACA	136540359	-	CATTATATCTACTAACACA	136540358	7	5	61	1	0	1	1	0	0	0	0	0	17000	535	19	0	1478	0	UBXN4	2	136540358	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	469183	136540358	106659015	55	4856	55	2									
UBXN4	23190	broad.mit.edu	37	chr2	136540359	136540360	+	Frame_Shift_Ins	INS	-	-	T													gctggaaaaacgtggagacgINSactttaaaaaggaggggaaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:136540359_136540360insT	ENST00000272638.9	+	13	1740_1741	c.1429_1430insT	c.(1429-1431)gacfs	p.D477fs	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	477					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ACGTGGAGACGACTTTAAAAAG	0.371													False	0	False	2:136540359	0	T	136540360	-	T	136540359	7	5	61	1	0	1	1	0	0	0	0	0	17000	1058	37	0	1479	0	UBXN4	2	136540359	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	136540359	106659014	56	4857	55	2									
GTDC1	79712	broad.mit.edu	37	chr2	144899594	144899595	+	Frame_Shift_Ins	INS	-	-	T													gattccatattaaaaactgaINSgttgaatacaaccacatcag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:144899594_144899595insT	ENST00000409214.1	-	6	653_654	c.375_376insA	c.(373-378)aactcafs	p.S126fs	GTDC1_ENST00000409298.1_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000344850.4_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000542155.1_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000392867.3_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000392869.1_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000241391.5_Frame_Shift_Ins_p.S126fs|GTDC1_ENST00000463875.2_5'UTR	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	126					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TTAAAAACTGAGTTGAATACAA	0.391													False	0	False	2:144899594	0	T	144899595	-	T	144899594	7	5	61	1	0	1	1	0	0	0	0	0	6898	304	11	0	1028	0	GTDC1	2	144899594	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	8359235	144899594	98299779	57	4858	56	2									
GTDC1	79712	broad.mit.edu	37	chr2	144899595	144899596	+	Translation_Start_Site	INS	-	-	TTCTTCATGCCAGTTTTAACTT													attccatattaaaaactgagINSttgaatacaaccacatcagc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:144899595_144899596insTTCTTCATGCCAGTTTTAACTT	ENST00000463875.2	-	0	334_335				GTDC1_ENST00000409298.1_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000344850.4_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000542155.1_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000392867.3_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000392869.1_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000241391.5_Frame_Shift_Ins_p.N125fs|GTDC1_ENST00000409214.1_Frame_Shift_Ins_p.N125fs			Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1						biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TAAAAACTGAGTTGAATACAAC	0.396													False	0	False	2:144899595	0	TTCTTCATGCCAGTTTTAACTT	144899596	-	TTCTTCATGCCAGTTTTAACTT	144899595	6	5	61	1	0	1	1	0	0	0	0	0	6898	1020	36	0		0	GTDC1	2	144899595	Translation_Start_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	144899595	98299778	58	4859	56	2									
NEB	4703	broad.mit.edu	37	chr2	152487757	152487758	+	Frame_Shift_Ins	INS	-	-	TATA													aggctggcggtagatgttatINScactcagtatttcggtagct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:152487757_152487758insTATA	ENST00000604864.1	-	64	9516_9517	c.9517_9518insTATA	c.(9517-9519)gatfs	p.D3173fs	NEB_ENST00000172853.10_Intron|NEB_ENST00000427231.2_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000409198.1_Intron|NEB_ENST00000603639.1_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.D3173fs			P20929	NEBU_HUMAN	nebulin	3173					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTAGATGTTATCACTCAGTATT	0.48													False	0	False	2:152487757	0	TATA	152487758	-	TATA	152487757	7	5	61	1	0	1	1	0	0	0	0	0	10370	1435	50	0	16636	0	NEB	2	152487757	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	7588162	152487757	90711616	59	4860	57	2									
NEB	4703	broad.mit.edu	37	chr2	152487758	152487759	+	Frame_Shift_Ins	INS	-	-	TTTAATG													ggctggcggtagatgttatcINSactcagtatttcggtagctc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:152487758_152487759insTTTAATG	ENST00000604864.1	-	64	9515_9516	c.9516_9517insCATTAAA	c.(9514-9519)agtgatfs	p.D3173fs	NEB_ENST00000172853.10_Intron|NEB_ENST00000427231.2_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000409198.1_Intron|NEB_ENST00000603639.1_Frame_Shift_Ins_p.D3173fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.D3173fs			P20929	NEBU_HUMAN	nebulin	3173					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGATGTTATCACTCAGTATTT	0.475													False	0	False	2:152487758	0	TTTAATG	152487759	-	TTTAATG	152487758	7	5	61	1	0	1	1	0	0	0	0	0	10370	826	29	0	16637	0	NEB	2	152487758	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	152487758	90711615	60	4861	57	2									
COBLL1	22837	broad.mit.edu	37	chr2	165600362	165600363	+	Frame_Shift_Ins	INS	-	-	AAATATCA													ggtctcagctggaggaagtgINSgtgccttggcttttggtttt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:165600362_165600363insAAATATCA	ENST00000375458.2	-	2	285_286	c.64_65insTGATATTT	c.(64-66)ccafs	p.P22fs	COBLL1_ENST00000409184.3_Frame_Shift_Ins_p.P60fs|COBLL1_ENST00000392717.2_Frame_Shift_Ins_p.P60fs|COBLL1_ENST00000342193.4_Frame_Shift_Ins_p.P22fs|COBLL1_ENST00000194871.6_Frame_Shift_Ins_p.P75fs|COBLL1_ENST00000491126.2_Intron	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	60										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGGAGGAAGTGGTGCCTTGGCT	0.307													False	0	False	2:165600362	0	AAATATCA	165600363	-	AAATATCA	165600362	7	5	61	1	0	1	1	0	0	0	0	0	3677	1348	47	0	3487	0	COBLL1	2	165600362	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	13112604	165600362	77599011	61	4862											
TTN	7273	broad.mit.edu	37	chr2	179516022	179516023	+	Frame_Shift_Ins	INS	-	-	TTTTTAGGGTCTGAAT													cagctactttcttttctggaINSacaacttcttttggaacttc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:179516022_179516023insTTTTTAGGGTCTGAAT	ENST00000589042.1	-	208	39796_39797	c.39572_39573insATTCAGACCCTAAAAA	c.(39571-39573)gttfs	p.-13191fs	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.-10757fs|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Frame_Shift_Ins_p.-11684fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTTCTGGAACAACTTCTTT	0.371													False	0	False	2:179516022	0	TTTTTAGGGTCTGAAT	179516023	-	TTTTTAGGGTCTGAAT	179516022	7	5	61	1	0	1	1	0	0	0	0	0	16819	233	9	0	68318	0	TTN	2	179516022	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	13915660	179516022	63683351	62	4863											
TTN	7273	broad.mit.edu	37	chr2	179621444	179621444	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattttgctctcctcctttgTgaaagaggaatctgccactg	8	10	2	2			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:179621444T>C	ENST00000589042.1	-	46	10983	c.10759A>G	c.(10759-10761)Aca>Gca	p.T3587A	TTN_ENST00000360870.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T3416A|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3273							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCCTTTGTGAAAGAGGAA	0.403													False	0	False	2:179621444	0	C	179621444	T	C	179621444	3	2	61	1	0	0	0	0	1	0	0	0	16819	1696	59	4	100497	4	TTN	2	179621444	Missense_Mutation	SNP	T	TCGA-HZ-7925-01A-11D-2154-08	105422	179621444	63577929	63	4864											
DUSP19	0	broad.mit.edu	37	chr2	183943878	183943879	+	In_Frame_Ins	INS	-	-	GCA													tggcgttattaagccatggtINStgctcctaggtgagtatatc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:183943878_183943879insGCA	ENST00000354221.4	+	1	392_393	c.217_218insGCA	c.(217-219)ttg>tGCAtg	p.73_73L>CM	DUSP19_ENST00000342619.6_In_Frame_Ins_p.73_73L>CM|DUSP19_ENST00000469344.1_3'UTR	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	73					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TAAGCCATGGTTGCTCCTAGGT	0.455													False	0	False	2:183943878	0	GCA	183943879	-	GCA	183943878	7	5	61	1	0	1	1	0	0	0	0	0	4848	1722	60	0	219	0	DUSP19	2	183943878	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	4322434	183943878	59255495	64	4865											
DNAH7	56171	broad.mit.edu	37	chr2	196729645	196729646	+	In_Frame_Ins	INS	-	-	CCTTGTCTTGTTTCG													acgctgaaaaagctcatgaaINSaatcttcatacatgtagttt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:196729645_196729646insCCTTGTCTTGTTTCG	ENST00000312428.6	-	41	6833_6834	c.6733_6734insCGAAACAAGACAAGG	c.(6733-6735)ttt>tCGAAACAAGACAAGGtt	p.2245_2245F>SKQDKV		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2245					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGCTCATGAAAATCTTCATAC	0.401													False	0	True	2:196729645	0	CCTTGTCTTGTTTCG	196729646	-	CCTTGTCTTGTTTCG	196729645	7	5	61	1	0	1	1	0	0	0	0	0	4636	14	1	0	5440	0	DNAH7	2	196729645	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	12785767	196729645	46469728	65	4866											
DNAH7	56171	broad.mit.edu	37	chr2	196737189	196737190	+	Frame_Shift_Ins	INS	-	-	TCCTGTTATTGAA													agaaattcatctggaaatttINSataacttaaaaattttttaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:196737189_196737190insTCCTGTTATTGAA	ENST00000312428.6	-	40	6517_6518	c.6417_6418insTTCAATAACAGGA	c.(6415-6420)tataaafs	p.YK2139fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2139	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTGGaaatttataacttaaaa	0.282													False	0	True	2:196737189	0	TCCTGTTATTGAA	196737190	-	TCCTGTTATTGAA	196737189	7	5	61	1	0	1	1	0	0	0	0	0	4636	1763	61	0	5760	0	DNAH7	2	196737189	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	7544	196737189	46462184	66	4867											
PLCL1	5334	broad.mit.edu	37	chr2	198953688	198953689	+	Frame_Shift_Ins	INS	-	-	CAGGTTTACAGAAAAGTACA													atcaccagtgacaatactccINSttcagtctcacttgtgatga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:198953688_198953689insCAGGTTTACAGAAAAGTACA	ENST00000428675.1	+	3	3220_3221	c.2822_2823insCAGGTTTACAGAAAAGTACA	c.(2821-2826)ccttcafs	p.S942fs	PLCL1_ENST00000437704.2_Frame_Shift_Ins_p.S844fs	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	942					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GACAATACTCCTTCAGTCTCAC	0.465													False	0	False	2:198953688	0	CAGGTTTACAGAAAAGTACA	198953689	-	CAGGTTTACAGAAAAGTACA	198953688	7	5	61	1	0	1	1	0	0	0	0	0	12108	681	24	0	2832	0	PLCL1	2	198953688	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2216499	198953688	44245685	67	4868											
SP140	11262	broad.mit.edu	37	chr2	231112711	231112712	+	In_Frame_Ins	INS	-	-	TCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT													acagggagaggaggaaggcaINSggaacagtcccagaaaaaga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:231112711_231112712insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	ENST00000343805.6	+	7	845_846	c.745_746insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	c.(745-747)agg>aTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGTgg	p.249_249R>ISESVCNFHIISLD*W	SP140_ENST00000392045.3_In_Frame_Ins_p.275_275R>ISESVCNFHIISLD*W|SP140_ENST00000350136.5_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000420434.3_In_Frame_Ins_p.275_275R>ISESVCNFHIISLD*W|SP140_ENST00000486687.2_Intron	NM_001278452.1	NP_001265381.1	Q13342	LY10_HUMAN	SP140 nuclear body protein	275					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAGGAAGGCAGGAACAGTCCC	0.48													False	0	False	2:231112711	0	TCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	231112712	-	TCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	231112711	7	5	61	1	0	1	1	0	0	0	0	0	15042	179	7	0	970	0	SP140	2	231112711	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	32159023	231112711	12086662	68	4869											
UGT1A6	0	broad.mit.edu	37	chr2	234677033	234677034	+	In_Frame_Ins	INS	-	-	CAC													gaccctgaatgttctggaaaINStgacttctgaagatttagaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:234677033_234677034insCAC	ENST00000305139.6	+	4	1388_1389	c.1249_1250insCAC	c.(1249-1251)atg>aCACtg	p.417_417M>TL	UGT1A4_ENST00000373409.3_In_Frame_Ins_p.419_419M>TL|UGT1A5_ENST00000373414.3_In_Frame_Ins_p.419_419M>TL|UGT1A1_ENST00000305208.5_In_Frame_Ins_p.418_418M>TL|UGT1A1_ENST00000360418.3_In_Frame_Ins_p.418_418M>TL|UGT1A3_ENST00000482026.1_In_Frame_Ins_p.419_419M>TL|UGT1A6_ENST00000406651.1_In_Frame_Ins_p.150_150M>TL|UGT1A6_ENST00000373424.1_In_Frame_Ins_p.150_150M>TL|UGT1A7_ENST00000373426.3_In_Frame_Ins_p.415_415M>TL|UGT1A10_ENST00000373445.1_In_Frame_Ins_p.415_415M>TL|UGT1A8_ENST00000373450.4_In_Frame_Ins_p.415_415M>TL|UGT1A9_ENST00000354728.4_In_Frame_Ins_p.415_415M>TL|UGT1A10_ENST00000344644.5_In_Frame_Ins_p.415_415M>TL	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TGTTCTGGAAATGACTTCTGAA	0.416													False	0	True	2:234677033	0	CAC	234677034	-	CAC	234677033	7	5	61	1	0	1	1	0	0	0	0	0	17033	101	4	0	1263	0	UGT1A6	2	234677033	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3564322	234677033	8522340	69	4870	58	2									
UGT1A6	0	broad.mit.edu	37	chr2	234677034	234677035	+	Frame_Shift_Ins	INS	-	-	CCAAA													accctgaatgttctggaaatINSgacttctgaagatttagaaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:234677034_234677035insCCAAA	ENST00000305139.6	+	4	1389_1390	c.1250_1251insCCAAA	c.(1249-1254)atgactfs	p.MT417fs	UGT1A4_ENST00000373409.3_Frame_Shift_Ins_p.MT419fs|UGT1A5_ENST00000373414.3_Frame_Shift_Ins_p.MT419fs|UGT1A1_ENST00000305208.5_Frame_Shift_Ins_p.MT418fs|UGT1A1_ENST00000360418.3_Frame_Shift_Ins_p.MT418fs|UGT1A3_ENST00000482026.1_Frame_Shift_Ins_p.MT419fs|UGT1A6_ENST00000406651.1_Frame_Shift_Ins_p.MT150fs|UGT1A6_ENST00000373424.1_Frame_Shift_Ins_p.MT150fs|UGT1A7_ENST00000373426.3_Frame_Shift_Ins_p.MT415fs|UGT1A10_ENST00000373445.1_Frame_Shift_Ins_p.MT415fs|UGT1A8_ENST00000373450.4_Frame_Shift_Ins_p.MT415fs|UGT1A9_ENST00000354728.4_Frame_Shift_Ins_p.MT415fs|UGT1A10_ENST00000344644.5_Frame_Shift_Ins_p.MT415fs	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GTTCTGGAAATGACTTCTGAAG	0.416													False	0	False	2:234677034	0	CCAAA	234677035	-	CCAAA	234677034	7	5	61	1	0	1	1	0	0	0	0	0	17033	1464	51	0	1264	0	UGT1A6	2	234677034	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	234677034	8522339	70	4871	58	2									
LRRFIP1	9208	broad.mit.edu	37	chr2	238668816	238668817	+	Frame_Shift_Ins	INS	-	-	CTCTGTTTTAATACAATAATAAAAAAGAAAACCATTTT													atgacaaaagaagagttaaaINStgccctcaagtcgacagggg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr2:238668816_238668817insCTCTGTTTTAATACAATAATAAAAAAGAAAACCATTTT	ENST00000308482.9	+	19	1496_1497	c.1427_1428insCTCTGTTTTAATACAATAATAAAAAAGAAAACCATTTT	c.(1426-1431)aatgccfs	p.A477fs	LRRFIP1_ENST00000244815.5_Frame_Shift_Ins_p.A263fs|LRRFIP1_ENST00000392000.4_Frame_Shift_Ins_p.A287fs|LRRFIP1_ENST00000289175.6_Frame_Shift_Ins_p.A231fs	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	529					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GAAGAGTTAAATGCCCTCAAGT	0.46													False	0	True	2:238668816	0	CTCTGTTTTAATACAATAATAAAAAAGAAAACCATTTT	238668817	-	CTCTGTTTTAATACAATAATAAAAAAGAAAACCATTTT	238668816	7	5	61	1	0	1	1	0	0	0	0	0	9089	101	4	0	1571	0	LRRFIP1	2	238668816	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3991782	238668816	4530557	71	4872											
RAD18	56852	broad.mit.edu	37	chr3	8983479	8983480	+	Frame_Shift_Ins	INS	-	-	CCTCA													actctaaagcaaactgcagcINSagatgattccttgaagcaca					rs143654080		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:8983479_8983480insCCTCA	ENST00000264926.2	-	5	391_392	c.275_276insTGAGG	c.(274-276)ctgfs	p.-92fs	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)						DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CAAACTGCAGCAGATGATTCCT	0.381								Rad6 pathway					False	0	False	3:8983479	0	CCTCA	8983480	-	CCTCA	8983479	7	5	61	1	0	1	1	0	0	0	0	0	13059	697	25	0	1247	0	RAD18	3	8983479	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		8983479	189038951	72	4873											
SETD5	55209	broad.mit.edu	37	chr3	9483355	9483356	+	Frame_Shift_Ins	INS	-	-	AAATTACTTCATAATTAAGGAAAACATGCTAATATTTTCAGGTT													agatttggctttggacactcINSttataatagagtatcgtggg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:9483355_9483356insAAATTACTTCATAATTAAGGAAAACATGCTAATATTTTCAGGTT	ENST00000406341.1	+	8	1079_1080	c.889_890insAAATTACTTCATAATTAAGGAAAACATGCTAATATTTTCAGGTT	c.(889-891)cttfs	p.L297fs	SETD5_ENST00000407969.1_Frame_Shift_Ins_p.L316fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.L199fs|SETD5_ENST00000402466.1_Frame_Shift_Ins_p.L199fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.L297fs			Q9C0A6	SETD5_HUMAN	SET domain containing 5	297	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTTGGACACTCTTATAATAGAG	0.431													False	0	False	3:9483355	0	AAATTACTTCATAATTAAGGAAAACATGCTAATATTTTCAGGTT	9483356	-	AAATTACTTCATAATTAAGGAAAACATGCTAATATTTTCAGGTT	9483355	7	5	61	1	0	1	1	0	0	0	0	0	14215	913	32	0	915	0	SETD5	3	9483355	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	499876	9483355	188539075	73	4874											
SLC22A14	9389	broad.mit.edu	37	chr3	38349147	38349150	+	Frame_Shift_Del	DEL	TTTG	TTTG	-													atgaacagctttcacctgtaTttgttctttcgctttggcat					rs78021456		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TTTG	TTTG	-	-	TTTG	TTTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:38349147_38349150delTTTG	ENST00000273173.4	+	3	802_805	c.711_714delTTTG	c.(709-714)tatttgfs	p.YL237fs	SLC22A14_ENST00000448498.1_Frame_Shift_Del_p.YL237fs	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	237						integral to plasma membrane	organic cation transmembrane transporter activity	p.L238fs*25(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TTCACCTGTATTTGTTCTTTCGCT	0.564													False	1	True	3:38349147	0	-	38349150	TTTG	-	38349147	7	5	61	1	0	1	0	1	0	0	0	0	14526	1500	52	0	721	0	SLC22A14	3	38349147	Frame_Shift_Del	DEL	TTTG	TCGA-HZ-7925-01A-11D-2154-08	28865792	38349147	159673283	74	4875											
BBX	56987	broad.mit.edu	37	chr3	107491556	107491557	+	Frame_Shift_Ins	INS	-	-	TTTTCAATTATATCTGTTTTAAA													cgatggtggaagaattaaagINSaattagagaagggaaaggaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:107491556_107491557insTTTTCAATTATATCTGTTTTAAA	ENST00000402543.1	+	12	1407_1408	c.988_989insTTTTCAATTATATCTGTTTTAAA	c.(988-990)gaafs	p.E330fs	BBX_ENST00000416476.2_Intron|BBX_ENST00000415149.2_Frame_Shift_Ins_p.E330fs|BBX_ENST00000406780.1_Frame_Shift_Ins_p.E330fs|BBX_ENST00000325805.8_Frame_Shift_Ins_p.E330fs			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAGAATTAAAGAATTAGAGAAG	0.327													False	0	False	3:107491556	0	TTTTCAATTATATCTGTTTTAAA	107491557	-	TTTTCAATTATATCTGTTTTAAA	107491556	7	5	61	1	0	1	1	0	0	0	0	0	1347	943	33	0	1018	0	BBX	3	107491556	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	69142409	107491556	90530874	75	4876											
MORC1	27136	broad.mit.edu	37	chr3	108746689	108746690	+	In_Frame_Ins	INS	-	-	AAATTGACTAAAGTGGTT													ttttgatggtgatattgtgcINStcatggtgcccagtgggatg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:108746689_108746690insAAATTGACTAAAGTGGTT	ENST00000483760.1	-	17	1655_1656	c.1612_1613insAACCACTTTAGTCAATTT	c.(1612-1614)agc>aAACCACTTTAGTCAATTTgc	p.538_538S>KPL*SIC	MORC1_ENST00000232603.5_In_Frame_Ins_p.538_538S>KPL*SIC			Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	538					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGATATTGTGCTCATGGTGCCC	0.396													False	0	False	3:108746689	0	AAATTGACTAAAGTGGTT	108746690	-	AAATTGACTAAAGTGGTT	108746689	7	5	61	1	0	1	1	0	0	0	0	0	9768	797	28	0	1389	0	MORC1	3	108746689	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1255133	108746689	89275741	76	4877											
CD80	941	broad.mit.edu	37	chr3	119263675	119263676	+	Frame_Shift_Ins	INS	-	-	CCCA													attgtgaccacaggacagcgINSttgccacttctttcacttcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:119263675_119263676insCCCA	ENST00000264246.3	-	3	501_502	c.139_140insTGGG	c.(139-141)acgfs	p.T47fs	CD80_ENST00000383668.3_Frame_Shift_Ins_p.T47fs|CD80_ENST00000383669.3_Frame_Shift_Ins_p.T47fs|CD80_ENST00000478182.1_Frame_Shift_Ins_p.T47fs	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	47	Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	ACAGGACAGCGTTGCCACTTCT	0.441													False	0	False	3:119263675	0	CCCA	119263676	-	CCCA	119263675	7	5	61	1	0	1	1	0	0	0	0	0	3061	1145	40	0	742	0	CD80	3	119263675	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	10516986	119263675	78758755	77	4878	59	2									
CD80	941	broad.mit.edu	37	chr3	119263676	119263677	+	Frame_Shift_Ins	INS	-	-	C													ttgtgaccacaggacagcgtINStgccacttctttcacttcct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:119263676_119263677insC	ENST00000264246.3	-	3	500_501	c.138_139insG	c.(136-141)gcaacgfs	p.T47fs	CD80_ENST00000383668.3_Frame_Shift_Ins_p.T47fs|CD80_ENST00000383669.3_Frame_Shift_Ins_p.T47fs|CD80_ENST00000478182.1_Frame_Shift_Ins_p.T47fs	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	47	Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	CAGGACAGCGTTGCCACTTCTT	0.441													False	0	False	3:119263676	0	C	119263677	-	C	119263676	7	5	61	1	0	1	1	0	0	0	0	0	3061	1725	60	0	743	0	CD80	3	119263676	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	119263676	78758754	78	4879	59	2									
ATP2C1	27032	broad.mit.edu	37	chr3	130686063	130686064	+	Frame_Shift_Ins	INS	-	-	AAAACTATAAT													ttcatggattctataacccaINSgctgttagcagaattgttga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:130686063_130686064insAAAACTATAAT	ENST00000510168.1	+	15	1747_1748	c.1197_1198insAAAACTATAAT	c.(1198-1200)gctfs	p.A400fs	ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.A434fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.A395fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.A345fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.A400fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	400					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TCTATAACCCAGCTGTTAGCAG	0.342									Hailey-Hailey disease				False	0	False	3:130686063	0	AAAACTATAAT	130686064	-	AAAACTATAAT	130686063	7	5	61	1	0	1	1	0	0	0	0	0	1147	175	7	0	1251	0	ATP2C1	3	130686063	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	11422387	130686063	67336367	79	4880											
PLCH1	23007	broad.mit.edu	37	chr3	155199717	155199718	+	Frame_Shift_Ins	INS	-	-	AGATGTCAAAACT													tgccctctctcctatattcaINScaggttgttagagaaagatt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:155199717_155199718insAGATGTCAAAACT	ENST00000460012.1	-	23	4364_4365	c.4007_4008insAGTTTTGACATCT	c.(4006-4008)tgtfs	p.C1336fs	PLCH1_ENST00000414191.1_Frame_Shift_Ins_p.C1336fs|PLCH1_ENST00000340059.7_Frame_Shift_Ins_p.C1374fs|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Frame_Shift_Ins_p.C1336fs|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1374					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCTATATTCACAGGTTGTTAG	0.426													False	0	False	3:155199717	0	AGATGTCAAAACT	155199718	-	AGATGTCAAAACT	155199717	7	5	61	1	0	1	1	0	0	0	0	0	12106	157	6	0	963	0	PLCH1	3	155199717	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	24513654	155199717	42822713	80	4881											
BCHE	590	broad.mit.edu	37	chr3	165547549	165547550	+	Frame_Shift_Ins	INS	-	-	GAATTTGTCTTTGGTTTACCTCTGGAAAGAAGAG													aaggcagggcatatgaaattINSataatccccaacaacatcac							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:165547549_165547550insGAATTTGTCTTTGGTTTACCTCTGGAAAGAAGAG	ENST00000264381.3	-	2	1438_1439	c.1272_1273insCTCTTCTTTCCAGAGGTAAACCAAAGACAAATTC	c.(1270-1275)tataatfs	p.N425fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	425					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CATATGAAATTATAATCCCCAA	0.426													False	0	False	3:165547549	0	GAATTTGTCTTTGGTTTACCTCTGGAAAGAAGAG	165547550	-	GAATTTGTCTTTGGTTTACCTCTGGAAAGAAGAG	165547549	7	5	61	1	0	1	1	0	0	0	0	0	1362	1754	61	0	547	0	BCHE	3	165547549	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	10347832	165547549	32474881	81	4882											
ZBBX	79740	broad.mit.edu	37	chr3	167090732	167090733	+	Translation_Start_Site	INS	-	-	TTTTGACTATTTTGTGAATTCTTATCTTCATTTTTC													aaagttattctgatttgtaaINSacacttctgtaaaagtaaca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:167090732_167090733insTTTTGACTATTTTGTGAATTCTTATCTTCATTTTTC	ENST00000392766.2	-	0	297_298				ZBBX_ENST00000392767.2_De_novo_Start_InFrame|ZBBX_ENST00000392764.1_De_novo_Start_InFrame|ZBBX_ENST00000307529.5_De_novo_Start_InFrame|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_De_novo_Start_InFrame	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing							intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGATTTGTAAACACTTCTGTA	0.302													False	0	True	3:167090732	0	TTTTGACTATTTTGTGAATTCTTATCTTCATTTTTC	167090733	-	TTTTGACTATTTTGTGAATTCTTATCTTCATTTTTC	167090732	6	5	61	1	0	1	1	0	0	0	0	0	17600	29	1	0		0	ZBBX	3	167090732	Translation_Start_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1543183	167090732	30931698	82	4883											
WDR53	348793	broad.mit.edu	37	chr3	196281320	196281321	+	Frame_Shift_Ins	INS	-	-	ACCAAAATATATTAGTAGCTGATCAAACTAGTTGTATA													gtgggtacgttttgtgggacINStcttctgttttttctcaact							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:196281320_196281321insACCAAAATATATTAGTAGCTGATCAAACTAGTTGTATA	ENST00000433160.1	-	3	630_631	c.361_362insTATACAACTAGTTTGATCAGCTACTAATATATTTTGGT	c.(361-363)agtfs	p.S121fs	WDR53_ENST00000332629.5_Frame_Shift_Ins_p.S280fs|WDR53_ENST00000429115.1_Frame_Shift_Ins_p.S119fs			Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	280										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TTTTGTGGGACTCTTCTGTTTT	0.455													False	0	False	3:196281320	0	ACCAAAATATATTAGTAGCTGATCAAACTAGTTGTATA	196281321	-	ACCAAAATATATTAGTAGCTGATCAAACTAGTTGTATA	196281320	7	5	61	1	0	1	1	0	0	0	0	0	17389	565	20	0	241	0	WDR53	3	196281320	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	29190588	196281320	1741110	83	4884											
SENP5	205564	broad.mit.edu	37	chr3	196626633	196626634	+	Frame_Shift_Ins	INS	-	-	AACCTATACACAGCAC													gatgtctttaatgaagacttINSttctaataggtatataaatg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr3:196626633_196626634insAACCTATACACAGCAC	ENST00000323460.5	+	3	1859_1860	c.1610_1611insAACCTATACACAGCAC	c.(1609-1614)ttttctfs	p.FS537fs	SENP5_ENST00000445299.2_Frame_Shift_Ins_p.FS537fs|SENP5_ENST00000419026.1_Frame_Shift_Ins_p.FS27fs	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	537					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AATGAAGACTTTTCTAATAGGT	0.307													False	0	True	3:196626633	0	AACCTATACACAGCAC	196626634	-	AACCTATACACAGCAC	196626633	7	5	61	1	0	1	1	0	0	0	0	0	14130	1841	64	0	1616	0	SENP5	3	196626633	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	345313	196626633	1395797	84	4885											
TLR6	10333	broad.mit.edu	37	chr4	38829078	38829079	+	In_Frame_Ins	INS	-	-	GATCTA													acaaagtttctctcatgaagINSacaaatctgtatatcttctt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:38829078_38829079insGATCTA	ENST00000381950.1	-	1	2081_2082	c.2016_2017insTAGATC	c.(2014-2019)tgtctt>tgtTAGATCctt	p.672_673CL>C*IL	TLR6_ENST00000436693.2_In_Frame_Ins_p.672_673CL>C*IL			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	672	TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTCATGAAGACAAATCTGTA	0.371													False	0	False	4:38829078	0	GATCTA	38829079	-	GATCTA	38829078	7	5	61	1	0	1	1	0	0	0	0	0	16037	942	33	0	377	0	TLR6	4	38829078	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		38829078	152325198	85	4886											
KCTD8	386617	broad.mit.edu	37	chr4	44177184	44177185	+	In_Frame_Ins	INS	-	-	GGG													agctcattacaggaagtcccINSactttcacttcctttatcag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:44177184_44177185insGGG	ENST00000360029.3	-	2	1327_1328	c.1044_1045insCCC	c.(1042-1047)agtggg>agtCCCggg	p.348_349SG>SPG		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	348						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CAGGAAGTCCCACTTTCACTTC	0.455										HNSCC(17;0.042)			False	0	True	4:44177184	0	GGG	44177185	-	GGG	44177184	7	5	61	1	0	1	1	0	0	0	0	0	8165	594	21	0	380	0	KCTD8	4	44177184	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	5348106	44177184	146977092	86	4887	60	2									
KCTD8	386617	broad.mit.edu	37	chr4	44177185	44177186	+	Frame_Shift_Ins	INS	-	-	AACAAAT													gctcattacaggaagtcccaINSctttcacttcctttatcagt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:44177185_44177186insAACAAAT	ENST00000360029.3	-	2	1326_1327	c.1043_1044insATTTGTT	c.(1042-1044)agtfs	p.S348fs		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	348						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						AGGAAGTCCCACTTTCACTTCC	0.455										HNSCC(17;0.042)			False	0	True	4:44177185	0	AACAAAT	44177186	-	AACAAAT	44177185	7	5	61	1	0	1	1	0	0	0	0	0	8165	156	6	0	381	0	KCTD8	4	44177185	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	44177185	146977091	87	4888	60	2									
POLR2B	5431	broad.mit.edu	37	chr4	57891701	57891702	+	Frame_Shift_Ins	INS	-	-	AAAAATTAAACAA													agcccatggagggtagatctINScggtaagaactgtatcatca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:57891701_57891702insAAAAATTAAACAA	ENST00000381227.1	+	24	3650_3651	c.3237_3238insAAAAATTAAACAA	c.(3238-3240)cgtfs	p.R1080fs	POLR2B_ENST00000314595.5_Frame_Shift_Ins_p.R1080fs|POLR2B_ENST00000441246.2_Frame_Shift_Ins_p.R1073fs|POLR2B_ENST00000431623.2_Frame_Shift_Ins_p.R1005fs			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1080					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGGGTAGATCTCGGTAAGAACT	0.386													False	0	False	4:57891701	0	AAAAATTAAACAA	57891702	-	AAAAATTAAACAA	57891701	7	5	61	1	0	1	1	0	0	0	0	0	12284	1538	54	0	3327	0	POLR2B	4	57891701	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	13714516	57891701	133262575	88	4889											
SLC4A4	8671	broad.mit.edu	37	chr4	72338763	72338764	+	In_Frame_Ins	INS	-	-	TTG													ctccatgcttgcaaattttcINSaacatgctgtcatggtcctc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:72338763_72338764insTTG	ENST00000512686.1	+	11	2043_2044	c.1847_1848insTTG	c.(1846-1851)tcaaca>tcTTGaaca	p.616_617ST>S*T	SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Intron			Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGCAAATTTTCAACATGCTGTC	0.431													False	0	False	4:72338763	0	TTG	72338764	-	TTG	72338763	7	5	61	1	0	1	1	0	0	0	0	0	14736	841	29	0		0	SLC4A4	4	72338763	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	14447062	72338763	118815513	89	4890	61	2									
SLC4A4	8671	broad.mit.edu	37	chr4	72338765	72338766	+	Frame_Shift_Ins	INS	-	-	AG													ccatgcttgcaaattttcaaINScatgctgtcatggtcctcag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:72338765_72338766insAG	ENST00000512686.1	+	11	2045_2046	c.1849_1850insAG	c.(1849-1851)acafs	p.T617fs	SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Intron			Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CAAATTTTCAACATGCTGTCAT	0.426													False	0	False	4:72338765	0	AG	72338766	-	AG	72338765	7	5	61	1	0	1	1	0	0	0	0	0	14736	58	2	0		0	SLC4A4	4	72338765	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	72338765	118815511	90	4891	61	2									
ANKRD17	26057	broad.mit.edu	37	chr4	73987410	73987411	+	In_Frame_Ins	INS	-	-	TAAATCCCTTTATTACAA													ccagaagcagccagacttagINSaggtgtgtaatcagaaacat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:73987410_73987411insTAAATCCCTTTATTACAA	ENST00000358602.4	-	19	3674_3675	c.3558_3559insTTGTAATAAAGGGATTTA	c.(3556-3561)cctcta>cctTTGTAATAAAGGGATTTActa	p.1187_1188ins**RDLL	ANKRD17_ENST00000330838.6_In_Frame_Ins_p.936_937ins**RDLL|ANKRD17_ENST00000509867.2_In_Frame_Ins_p.1074_1075ins**RDLL|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1187					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCAGACTTAGAGGTGTGTAAT	0.371													False	0	False	4:73987410	0	TAAATCCCTTTATTACAA	73987411	-	TAAATCCCTTTATTACAA	73987410	7	5	61	1	0	1	1	0	0	0	0	0	646	933	33	0	4316	0	ANKRD17	4	73987410	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1648645	73987410	117166866	91	4892											
SLC10A6	345274	broad.mit.edu	37	chr4	87754576	87754577	+	Splice_Site	INS	-	-	AATAGCTGTTCTTAATTATATAACTCTTTATGCAG													gaacaggttgtcatactgatINSgctgaaagtaaaattaatac					rs150227719	by1000genomes	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:87754576_87754577insAATAGCTGTTCTTAATTATATAACTCTTTATGCAG	ENST00000273905.6	-	2	525_526	c.378_379insCTGCATAAAGAGTTATATAATTAAGAACAGCTATT	c.(376-381)agcatc>agcCTGCATAAAGAGTTATATAATTAAGAACAGCTATTatc	p.I127fs	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	127						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GTCATACTGATGCTGAAAGTAA	0.436													False	0	False	4:87754576	0	AATAGCTGTTCTTAATTATATAACTCTTTATGCAG	87754577	-	AATAGCTGTTCTTAATTATATAACTCTTTATGCAG	87754576	8	5	61	1	0	1	1	0	0	0	1	0	14459	1478	51	0	774	0	SLC10A6	4	87754576	Splice_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	13767166	87754576	103399700	92	4893											
UNC5C	8633	broad.mit.edu	37	chr4	96127941	96127942	+	Frame_Shift_Ins	INS	-	-	CAGATAA													gtgtctgagagtcatccatgINSggtggcctaggaggagagca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:96127941_96127942insCAGATAA	ENST00000453304.1	-	11	2087_2088	c.1739_1740insTTATCTG	c.(1738-1740)cccfs	p.-580fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)						apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGTCATCCATGGGTGGCCTAGG	0.53													False	0	True	4:96127941	0	CAGATAA	96127942	-	CAGATAA	96127941	7	5	61	1	0	1	1	0	0	0	0	0	17077	1335	47	0	1079	0	UNC5C	4	96127941	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	8373365	96127941	95026335	93	4894											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99342510	99342511	+	In_Frame_Ins	INS	-	-	AATCAGTTGAAA													gatgggggagtcaaacagacINStgctgtctgcccttatacga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:99342510_99342511insAATCAGTTGAAA	ENST00000408927.3	+	12	1518_1519	c.1405_1406insAATCAGTTGAAA	c.(1405-1407)ctg>cAATCAGTTGAAAtg	p.469_469L>QSVEM	RAP1GDS1_ENST00000264572.7_In_Frame_Ins_p.378_378L>QSVEM|RAP1GDS1_ENST00000408900.3_In_Frame_Ins_p.420_420L>QSVEM|RAP1GDS1_ENST00000380158.4_In_Frame_Ins_p.421_421L>QSVEM|RAP1GDS1_ENST00000453712.2_In_Frame_Ins_p.469_469L>QSVEM|RAP1GDS1_ENST00000339360.5_In_Frame_Ins_p.470_470L>QSVEM	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	469							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GTCAAACAGACTGCTGTCTGCC	0.431			T	NUP98	T-ALL								False	0	False	4:99342510	0	AATCAGTTGAAA	99342511	-	AATCAGTTGAAA	99342510	7	5	61	1	0	1	1	0	0	0	0	0	13118	564	20	0	1454	0	RAP1GDS1	4	99342510	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3214569	99342510	91811766	94	4895											
SLC39A8	64116	broad.mit.edu	37	chr4	103236987	103236988	+	Translation_Start_Site	INS	-	-	AGACCAAGTCATTCAGAAGGTATATTAGAAGCATTTTTT													atctcttcagcagttaaacaINSctgaaatagaataaacaaaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:103236987_103236988insAGACCAAGTCATTCAGAAGGTATATTAGAAGCATTTTTT	ENST00000510255.1	-	0	147				SLC39A8_ENST00000394833.2_Splice_Site_p.73_74insKKCF*YTF*MTWS|SLC39A8_ENST00000356736.4_Splice_Site_p.73_74insKKCF*YTF*MTWS|SLC39A8_ENST00000424970.2_Splice_Site_p.73_74insKKCF*YTF*MTWS			Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8							integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		GCAGTTAAACACTGAAATAGAA	0.351													False	0	False	4:103236987	0	AGACCAAGTCATTCAGAAGGTATATTAGAAGCATTTTTT	103236988	-	AGACCAAGTCATTCAGAAGGTATATTAGAAGCATTTTTT	103236987	6	5	61	1	0	1	1	0	0	0	0	0	14704	173	6	0		0	SLC39A8	4	103236987	Translation_Start_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3894477	103236987	87917289	95	4896											
KIAA1109	84162	broad.mit.edu	37	chr4	123140719	123140733	+	Splice_Site	DEL	TGTTGTAAGTGTTTA	TGTTGTAAGTGTTTA	-													aaagttcatgggcgtcttccTgttgtaagtgtttacacatg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TGTTGTAAGTGTTTA	TGTTGTAAGTGTTTA	-	-	TGTTGTAAGTGTTTA	TGTTGTAAGTGTTTA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:123140719_123140733delTGTTGTAAGTGTTTA	ENST00000264501.4	+	21	2845_2848	c.2472_2475delTGTTGTAAGTGTTTA	c.(2470-2475)cctgtt>cc	p.PV824del	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Splice_Site_p.PV824del|KIAA1109_ENST00000455637.1_Splice_Site_p.PV824del			Q2LD37	K1109_HUMAN	KIAA1109	824					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGCGTCTTCCTGTTGTAAGTGTTTACACATGAAAG	0.367													False	1	False	4:123140719	0	-	123140733	TGTTGTAAGTGTTTA	-	123140719	8	5	61	1	0	1	0	1	0	0	1	0	8258	1567	55	0	2546	0	KIAA1109	4	123140719	Splice_Site	DEL	TGTTGTAAGTGTTTA	TCGA-HZ-7925-01A-11D-2154-08	19903732	123140719	68013557	96	4897											
INTU	27152	broad.mit.edu	37	chr4	128564887	128564888	+	Frame_Shift_Ins	INS	-	-	AGGTATGTCATCCT													gtttaccaaaattttaagaaINSggaaaagacttttacccaag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:128564887_128564888insAGGTATGTCATCCT	ENST00000335251.5	+	2	461_462	c.358_359insAGGTATGTCATCCT	c.(358-360)aggfs	p.R120fs	INTU_ENST00000296461.5_Frame_Shift_Ins_p.R120fs	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	120										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AATTTTAAGAAGGAAAAGACTT	0.351													False	0	False	4:128564887	0	AGGTATGTCATCCT	128564888	-	AGGTATGTCATCCT	128564887	7	5	61	1	0	1	1	0	0	0	0	0	7836	63	3	0	364	0	INTU	4	128564887	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	5424168	128564887	62589389	97	4898											
ELMOD2	255520	broad.mit.edu	37	chr4	141464739	141464740	+	Splice_Site	INS	-	-	CAGCTAGCCAAA													aacactttcatcagttttacINStgtgagtattaaaatgagtt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:141464739_141464740insCAGCTAGCCAAA	ENST00000323570.3	+	8	867_868	c.735_736insCAGCTAGCCAAA	c.(736-738)tgt>CAGCTAGCCAAAtgt	p.245_246insQLAK		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	245	ELMO.				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					ATCAGTTTTACTGTGAGTATTA	0.312													False	0	False	4:141464739	0	CAGCTAGCCAAA	141464740	-	CAGCTAGCCAAA	141464739	8	5	61	1	0	1	1	0	0	0	1	0	5101	579	20	0	761	0	ELMOD2	4	141464739	Splice_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	12899852	141464739	49689537	98	4899											
TLR2	7097	broad.mit.edu	37	chr4	154625025	154625026	+	Frame_Shift_Ins	INS	-	-	CA													ggctgcatattccaaggtttINStacttattttatgatctgag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:154625025_154625026insCA	ENST00000260010.6	+	1	2374_2375	c.966_967insCA	c.(967-969)tacfs	p.Y323fs		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	323					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TTCCAAGGTTTTACTTATTTTA	0.332													False	0	True	4:154625025	0	CA	154625026	-	CA	154625025	7	5	61	1	0	1	1	0	0	0	0	0	16033	1838	64	0	968	0	TLR2	4	154625025	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	13160286	154625025	36529251	99	4900	62	2									
TLR2	7097	broad.mit.edu	37	chr4	154625026	154625027	+	In_Frame_Ins	INS	-	-	AACCTGAAACAA													gctgcatattccaaggttttINSacttattttatgatctgagc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:154625026_154625027insAACCTGAAACAA	ENST00000260010.6	+	1	2375_2376	c.967_968insAACCTGAAACAA	c.(967-969)tac>tAACCTGAAACAAac	p.323_323Y>*PETN		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	323					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TCCAAGGTTTTACTTATTTTAT	0.332													False	0	True	4:154625026	0	AACCTGAAACAA	154625027	-	AACCTGAAACAA	154625026	7	5	61	1	0	1	1	0	0	0	0	0	16033	1754	61	0	969	0	TLR2	4	154625026	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	154625026	36529250	100	4901	62	2									
FAT1	2195	broad.mit.edu	37	chr4	187542013	187542014	+	Frame_Shift_Ins	INS	-	-	AAGAAAGTCAC													aaatcaactgtgagaatgcaINScttgaatcagcatctgtagc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr4:187542013_187542014insAAGAAAGTCAC	ENST00000441802.2	-	10	5935_5936	c.5726_5727insGTGACTTTCTT	c.(5725-5727)agtfs	p.-1908fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGAGAATGCACTTGAATCAGC	0.426										HNSCC(5;0.00058)			False	0	False	4:187542013	0	AAGAAAGTCAC	187542014	-	AAGAAAGTCAC	187542013	7	5	61	1	0	1	1	0	0	0	0	0	5729	156	6	0	8111	0	FAT1	4	187542013	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	32916987	187542013	3612263	101	4902											
KIAA0947	23379	broad.mit.edu	37	chr5	5463215	5463216	+	In_Frame_Ins	INS	-	-	TTCATTTCTTTACTTAGGGTTCCTTTACTA													agctcactcagtgttctttgINSgaaactctgtctgaggttct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:5463215_5463216insTTCATTTCTTTACTTAGGGTTCCTTTACTA	ENST00000296564.7	+	13	3990_3991	c.3768_3769insTTCATTTCTTTACTTAGGGTTCCTTTACTA	c.(3769-3771)gaa>TTCATTTCTTTACTTAGGGTTCCTTTACTAgaa	p.1256_1257insFISLLRVPLL		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1256										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGTGTTCTTTGGAAACTCTGTC	0.381													False	0	True	5:5463215	0	TTCATTTCTTTACTTAGGGTTCCTTTACTA	5463216	-	TTCATTTCTTTACTTAGGGTTCCTTTACTA	5463215	7	5	61	1	0	1	1	0	0	0	0	0	8252	1339	47	0	3818	0	KIAA0947	5	5463215	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		5463215	175452045	102	4903											
DNAH5	1767	broad.mit.edu	37	chr5	13762877	13762878	+	Translation_Start_Site	INS	-	-	TCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT													agaaaagaaggaagccatagINSctttcgtccaggaacaaaga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:13762877_13762878insTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT	ENST00000504001.3	-	0	741_742				DNAH5_ENST00000265104.4_Frame_Shift_Ins_p.A3412fs			Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGAAGCCATAGCTTTCGTCCAG	0.46									Kartagener syndrome				False	0	True	5:13762877	0	TCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT	13762878	-	TCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT	13762877	6	5	61	1	0	1	1	0	0	0	0	0	4634	971	34	0		0	DNAH5	5	13762877	Translation_Start_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	8299662	13762877	167152383	103	4904											
PRDM9	56979	broad.mit.edu	37	chr5	23524634	23524635	+	Frame_Shift_Ins	INS	-	-	TTCCCAGTATC													aaagagctcatggcagggagINSaggtaggcatcactattact							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:23524634_23524635insTTCCCAGTATC	ENST00000296682.3	+	10	1324_1325	c.1142_1143insTTCCCAGTATC	c.(1141-1146)agagaafs	p.RE381fs		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	381				Missing (in Ref. 4; AAF87242).	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGGCAGGGAGAGGTAGGCATC	0.446										HNSCC(3;0.000094)			False	0	False	5:23524634	0	TTCCCAGTATC	23524635	-	TTCCCAGTATC	23524634	7	5	61	1	0	1	1	0	0	0	0	0	12539	942	33	0	1176	0	PRDM9	5	23524634	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	9761757	23524634	157390626	104	4905											
FYB	2533	broad.mit.edu	37	chr5	39153670	39153671	+	Frame_Shift_Ins	INS	-	-	CAAAT													tggtggaggtggtggcagggINSaagttgttgagtaagacgtc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:39153670_39153671insCAAAT	ENST00000351578.6	-	3	1361_1362	c.1171_1172insATTTG	c.(1171-1173)tccfs	p.S391fs	FYB_ENST00000505428.1_Frame_Shift_Ins_p.S391fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.S401fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.S391fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.S391fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	391	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGTGGCAGGGAAGTTGTTGAG	0.47													False	0	True	5:39153670	0	CAAAT	39153671	-	CAAAT	39153670	7	5	61	1	0	1	1	0	0	0	0	0	6166	1174	41	0	1385	0	FYB	5	39153670	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	15629036	39153670	141761590	105	4906											
PRKAA1	5562	broad.mit.edu	37	chr5	40769602	40769603	+	Frame_Shift_Ins	INS	-	-	TTGTCTTTTTCTCCTAGATTTTGTTAGTCTATAGTGTCATATTTAATTCTAAT													atctgacatcatgtttgaaaINSgacctgaaagtgcacaaaat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:40769602_40769603insTTGTCTTTTTCTCCTAGATTTTGTTAGTCTATAGTGTCATATTTAATTCTAAT	ENST00000296800.4	-	5	495_496	c.484_485insATTAGAATTAAATATGACACTATAGACTAACAAAATCTAGGAGAAAAAGACAA	c.(484-486)cttfs	p.L162fs	PRKAA1_ENST00000397128.2_Frame_Shift_Ins_p.L171fs|PRKAA1_ENST00000354209.3_Frame_Shift_Ins_p.L186fs			Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	171	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CATGTTTGAAAGACCTGAAAGT	0.332													False	0	True	5:40769602	0	TTGTCTTTTTCTCCTAGATTTTGTTAGTCTATAGTGTCATATTTAATTCTAAT	40769603	-	TTGTCTTTTTCTCCTAGATTTTGTTAGTCTATAGTGTCATATTTAATTCTAAT	40769602	7	5	61	1	0	1	1	0	0	0	0	0	12569	72	3	0	1187	0	PRKAA1	5	40769602	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1615932	40769602	140145658	106	4907											
DDX4	54514	broad.mit.edu	37	chr5	55075881	55075882	+	Frame_Shift_Ins	INS	-	-	AAAT													ttgccgtggaggatttggtcINStaggaagtccaagttagtac							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:55075881_55075882insAAAT	ENST00000505374.1	+	8	576_577	c.484_485insAAAT	c.(484-486)ctafs	p.L162fs	DDX4_ENST00000511853.1_Intron|DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Frame_Shift_Ins_p.L142fs|DDX4_ENST00000353507.5_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	162	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGGATTTGGTCTAGGAAGTCCA	0.371													False	0	False	5:55075881	0	AAAT	55075882	-	AAAT	55075881	7	5	61	1	0	1	1	0	0	0	0	0	4385	912	32	0	551	0	DDX4	5	55075881	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	14306279	55075881	125839379	107	4908											
GPBP1	65056	broad.mit.edu	37	chr5	56527147	56527149	+	Splice_Site	DEL	TTG	TTG	-													acagtttgaagctgaggattTtgtaagttttttatgacttt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TTG	TTG	-	-	TTG	TTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:56527147_56527149delTTG	ENST00000424459.3	+	5	1684_1685	c.410_411delTTG	c.(409-411)ttt>t	p.F137del	GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000264779.6_Splice_Site_p.F144del|GPBP1_ENST00000454432.2_Splice_Site_p.F137del|GPBP1_ENST00000538707.1_Splice_Site_p.F144del|GPBP1_ENST00000511209.1_Splice_Site_p.F144del|GPBP1_ENST00000506184.2_Splice_Site_p.F137del	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GCTGAGGATTTTGTAAGTTTTTT	0.399													False	1	True	5:56527147	0	-	56527149	TTG	-	56527147	8	5	61	1	0	1	0	1	0	0	1	0	6641	1855	64	0	445	0	GPBP1	5	56527147	Splice_Site	DEL	TTG	TCGA-HZ-7925-01A-11D-2154-08	1451266	56527147	124388113	108	4909											
RAD17	5884	broad.mit.edu	37	chr5	68669819	68669820	+	Translation_Start_Site	INS	-	-	ATGTAAATATAATCACA													agcgagaaaaagaggaaatcINStatcttccttagaacagatt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:68669819_68669820insATGTAAATATAATCACA	ENST00000521422.1	+	0	414_415				RAD17_ENST00000504177.1_Intron|RAD17_ENST00000509734.1_Frame_Shift_Ins_p.L69fs|RAD17_ENST00000358030.2_De_novo_Start_OutOfFrame|RAD17_ENST00000354868.5_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000361732.2_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000345306.6_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000354312.3_Frame_Shift_Ins_p.L58fs|RAD17_ENST00000380774.3_Frame_Shift_Ins_p.L69fs|RAD17_ENST00000305138.4_Frame_Shift_Ins_p.L58fs			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)						cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AAGAGGAAATCTATCTTCCTTA	0.351								Other conserved DNA damage response genes					False	0	True	5:68669819	0	ATGTAAATATAATCACA	68669820	-	ATGTAAATATAATCACA	68669819	6	5	61	1	0	1	1	0	0	0	0	0	13058	912	32	0		0	RAD17	5	68669819	Translation_Start_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	12142672	68669819	112245441	109	4910											
BDP1	55814	broad.mit.edu	37	chr5	70805871	70805872	+	In_Frame_Ins	INS	-	-	TCTATTTCCTCAGTGGCATCAATCACCTCT													aggaaatagacaaaaatttgINSgaagaaactggaagaagaaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:70805871_70805872insTCTATTTCCTCAGTGGCATCAATCACCTCT	ENST00000358731.4	+	17	3215_3216	c.2952_2953insTCTATTTCCTCAGTGGCATCAATCACCTCT	c.(2953-2955)gaa>TCTATTTCCTCAGTGGCATCAATCACCTCTgaa	p.984_985insSISSVASITS	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	984	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACAAAAATTTGGAAGAAACTGG	0.446													False	0	False	5:70805871	0	TCTATTTCCTCAGTGGCATCAATCACCTCT	70805872	-	TCTATTTCCTCAGTGGCATCAATCACCTCT	70805871	7	5	61	1	0	1	1	0	0	0	0	0	1399	1339	47	0	3018	0	BDP1	5	70805871	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2136052	70805871	110109389	110	4911			1	9		4	3	1004	N	-	3.828509e-05
BDP1	55814	broad.mit.edu	37	chr5	70806578	70806579	+	In_Frame_Ins	INS	-	-	CTCCATTTC													ccagaggaggtcaagcctgtINSaggtaaaatggagacagatt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:70806578_70806579insCTCCATTTC	ENST00000358731.4	+	17	3922_3923	c.3659_3660insCTCCATTTC	c.(3658-3663)gtaggt>gtCTCCATTTCaggt	p.1220_1221VG>VSISG	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1220	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTCAAGCCTGTAGGTAAAATGG	0.416													False	0	False	5:70806578	0	CTCCATTTC	70806579	-	CTCCATTTC	70806578	7	5	61	1	0	1	1	0	0	0	0	0	1399	1638	57	0	3725	0	BDP1	5	70806578	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	707	70806578	110108682	111	4912			1	9		4	3	1004	N	-	3.828509e-05
BDP1	55814	broad.mit.edu	37	chr5	70806873	70806874	+	Frame_Shift_Ins	INS	-	-	TG													gaaaaacagacatttctccaINSagggaaaacgagctagagga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:70806873_70806874insTG	ENST00000358731.4	+	17	4217_4218	c.3954_3955insTG	c.(3955-3957)aggfs	p.R1319fs	BDP1_ENST00000380675.2_De_novo_Start_OutOfFrame	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1319	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACATTTCTCCAAGGGAAAACGA	0.416													False	0	True	5:70806873	0	TG	70806874	-	TG	70806873	7	5	61	1	0	1	1	0	0	0	0	0	1399	117	5	0	4020	0	BDP1	5	70806873	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	295	70806873	110108387	112	4913	63	2	1	9		4	3	1004	N	-	3.828509e-05
BDP1	55814	broad.mit.edu	37	chr5	70806874	70806875	+	Frame_Shift_Ins	INS	-	-	T													aaaaacagacatttctccaaINSgggaaaacgagctagaggag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:70806874_70806875insT	ENST00000358731.4	+	17	4218_4219	c.3955_3956insT	c.(3955-3957)aggfs	p.R1319fs	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1319	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CATTTCTCCAAGGGAAAACGAG	0.411													False	0	True	5:70806874	0	T	70806875	-	T	70806874	7	5	61	1	0	1	1	0	0	0	0	0	1399	63	3	0	4021	0	BDP1	5	70806874	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	70806874	110108386	113	4914	63	2	1	9		4	3	1004	N	-	3.828509e-05
WDR41	55255	broad.mit.edu	37	chr5	76785385	76785386	+	In_Frame_Ins	INS	-	-	GGAAGAGGTTTTAGGGAATTTTATGTTAAACACCTTTAAAAT													tgttcttcacctattgtctgINStaaaggagatttcttgtatt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:76785385_76785386insGGAAGAGGTTTTAGGGAATTTTATGTTAAACACCTTTAAAAT	ENST00000296679.4	-	2	438_439	c.63_64insATTTTAAAGGTGTTTAACATAAAATTCCCTAAAACCTCTTCC	c.(61-66)ttacag>ttaATTTTAAAGGTGTTTAACATAAAATTCCCTAAAACCTCTTCCcag	p.21_22LQ>LILKVFNIKFPKTSSQ	WDR41_ENST00000507029.1_Intron|WDR41_ENST00000414719.2_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	21										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CCTATTGTCTGTAAAGGAGATT	0.317													False	0	True	5:76785385	0	GGAAGAGGTTTTAGGGAATTTTATGTTAAACACCTTTAAAAT	76785386	-	GGAAGAGGTTTTAGGGAATTTTATGTTAAACACCTTTAAAAT	76785385	7	5	61	1	0	1	1	0	0	0	0	0	17378	1386	48	0	1363	0	WDR41	5	76785385	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	5978511	76785385	104129875	114	4915											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	61	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-HZ-7925-01A-11D-2154-08	1825059	78610444	102304816	115	4916											
MSH3	4437	broad.mit.edu	37	chr5	80064776	80064777	+	In_Frame_Ins	INS	-	-	GTGGTTCCAATTGTC													ttgcaagaaatacgaaaaatINSactaaaaaatccttctgcac							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:80064776_80064777insGTGGTTCCAATTGTC	ENST00000265081.6	+	15	2287_2288	c.2207_2208insGTGGTTCCAATTGTC	c.(2206-2211)atacta>atGTGGTTCCAATTGTCacta	p.736_736I>MWFQLS		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	736					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATACGAAAAATACTAAAAAATC	0.322								Mismatch excision repair (MMR)					False	0	False	5:80064776	0	GTGGTTCCAATTGTC	80064777	-	GTGGTTCCAATTGTC	80064776	7	5	61	1	0	1	1	0	0	0	0	0	9938	1406	49	0	2265	0	MSH3	5	80064776	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1454332	80064776	100850484	116	4917											
GPR98	84059	broad.mit.edu	37	chr5	89933756	89933757	+	Frame_Shift_Ins	INS	-	-	T													aatgaaactgtaacactttcINStctagacaggtaataaccca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:89933756_89933757insT	ENST00000405460.2	+	11	2327_2328	c.2231_2232insT	c.(2230-2235)tctctafs	p.L745fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	745	Calx-beta 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTAACACTTTCTCTAGACAGGT	0.297													False	1	False	5:89933756	0	T	89933757	-	T	89933756	7	5	61	1	0	1	1	0	0	0	0	0	6768	913	32	0	2273	0	GPR98	5	89933756	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	9868980	89933756	90981504	117	4918	64	2									
GPR98	84059	broad.mit.edu	37	chr5	89933758	89933759	+	Frame_Shift_Ins	INS	-	-	TAAAATA													tgaaactgtaacactttctcINStagacaggtaataacccatt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:89933758_89933759insTAAAATA	ENST00000405460.2	+	11	2329_2330	c.2233_2234insTAAAATA	c.(2233-2235)ctafs	p.-745fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACACTTTCTCTAGACAGGTAA	0.297													False	0	False	5:89933758	0	TAAAATA	89933759	-	TAAAATA	89933758	7	5	61	1	0	1	1	0	0	0	0	0	6768	912	32	0	2275	0	GPR98	5	89933758	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	89933758	90981502	118	4919	64	2									
FER	2241	broad.mit.edu	37	chr5	108207143	108207144	+	Frame_Shift_Ins	INS	-	-	GAACAATAAGCATAAGAAATGT													aatgtccataaagagattcaINSaatgtcggttgaacagatag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:108207143_108207144insGAACAATAAGCATAAGAAATGT	ENST00000281092.4	+	7	1127_1128	c.743_744insGAACAATAAGCATAAGAAATGT	c.(742-747)caaatgfs	p.M249fs	FER_ENST00000438717.2_Frame_Shift_Ins_p.M74fs|FER_ENST00000536402.1_Frame_Shift_Ins_p.M249fs	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	249	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAAGAGATTCAAATGTCGGTTG	0.317													False	0	True	5:108207143	0	GAACAATAAGCATAAGAAATGT	108207144	-	GAACAATAAGCATAAGAAATGT	108207143	7	5	61	1	0	1	1	0	0	0	0	0	5853	130	5	0	761	0	FER	5	108207143	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	18273385	108207143	72708117	119	4920											
WDR36	134430	broad.mit.edu	37	chr5	110428229	110428230	+	Frame_Shift_Ins	INS	-	-	ACATAAA													ccttgggacttttcagcaacINSgacattccacacgtggtgcg					rs149994285	byFrequency	TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:110428229_110428230insACATAAA	ENST00000513710.2	+	1	247_248	c.243_244insACATAAA	c.(244-246)gacfs	p.D82fs	WDR36_ENST00000505303.1_Frame_Shift_Ins_p.D26fs|WDR36_ENST00000506538.2_Frame_Shift_Ins_p.D82fs			Q8NI36	WDR36_HUMAN	WD repeat domain 36	82					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTTTCAGCAACGACATTCCACA	0.594													False	0	False	5:110428229	0	ACATAAA	110428230	-	ACATAAA	110428229	7	5	61	1	0	1	1	0	0	0	0	0	17374	535	19	0	245	0	WDR36	5	110428229	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2221086	110428229	70487031	120	4921											
AQPEP	0	broad.mit.edu	37	chr5	115327959	115327959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcctatgttgtctcccaCgagattggacaccaggcatg	9	12	2	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:115327959C>T	ENST00000357872.4	+	5	1369	c.1245C>T	c.(1243-1245)caC>caT	p.H415H	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		415					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TTGTCTCCCACGAGATTGGAC	0.388													False	0	False	5:115327959	0	T	115327959	C	T	115327959	2	4	61	1	0	0	0	0	0	0	0	1	836	535	19	1		1	AQPEP	5	115327959	Silent	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	4899730	115327959	65587301	121	4922											
BRD8	10902	broad.mit.edu	37	chr5	137502395	137502396	+	In_Frame_Ins	INS	-	-	TTTCATTTT													tgtaggaccagcttctaaaaINSgccgggaaagagtgggagca					rs138533060		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:137502395_137502396insTTTCATTTT	ENST00000254900.5	-	10	1179_1180	c.808_809insAAAATGAAA	c.(808-810)ctt>cAAAATGAAAtt	p.270_270L>QNEI	BRD8_ENST00000230901.5_In_Frame_Ins_p.343_343L>QNEI|BRD8_ENST00000455658.2_In_Frame_Ins_p.229_229L>QNEI|BRD8_ENST00000411594.2_Intron|BRD8_ENST00000402931.1_In_Frame_Ins_p.270_270L>QNEI	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	270					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGCTTCTAAAAGCCGGGAAAGA	0.441													False	0	True	5:137502395	0	TTTCATTTT	137502396	-	TTTCATTTT	137502395	7	5	61	1	0	1	1	0	0	0	0	0	1513	72	3	0	3034	0	BRD8	5	137502395	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	22174436	137502395	43412865	122	4923											
PCDHA8	0	broad.mit.edu	37	chr5	140222482	140222482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctgcagccgctggaccacGaggagctagagctgctgcag	15	13	0	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:140222482G>A	ENST00000531613.1	+	1	1576	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E526K|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACCACGAGGAGCTAGA	0.677													False	0	False	5:140222482	0	A	140222482	G	A	140222482	3	1	61	1	0	0	0	0	1	0	0	0	11598	1059	37	1	1578	1	PCDHA8	5	140222482	Missense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	2720087	140222482	40692778	123	4924											
PCDHB7	0	broad.mit.edu	37	chr5	140552655	140552656	+	In_Frame_Ins	INS	-	-	CCACTC													attttactgctcagttcgctINStactggtgatctacttctaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:140552655_140552656insCCACTC	ENST00000231137.3	+	1	413_414	c.239_240insCCACTC	c.(238-243)cttact>ctCCACTCtact	p.80_81LT>LHST		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		80	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGTTCGCTTACTGGTGATC	0.47													False	0	False	5:140552655	0	CCACTC	140552656	-	CCACTC	140552655	7	5	61	1	0	1	1	0	0	0	0	0	11615	1609	56	0	241	0	PCDHB7	5	140552655	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	330173	140552655	40362605	124	4925											
PCDHGA7	0	broad.mit.edu	37	chr5	140763524	140763525	+	Frame_Shift_Ins	INS	-	-	CGAGTTCAGA													gtgactatgacgtctttaagINStagctcaatccctgaagaca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:140763524_140763525insCGAGTTCAGA	ENST00000518325.1	+	1	1058_1059	c.1058_1059insCGAGTTCAGA	c.(1057-1062)agtagcfs	p.S354fs	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTCTTTAAGTAGCTCAATCC	0.436													False	0	False	5:140763524	0	CGAGTTCAGA	140763525	-	CGAGTTCAGA	140763524	7	5	61	1	0	1	1	0	0	0	0	0	11627	1029	36	0	1060	0	PCDHGA7	5	140763524	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	210869	140763524	40151736	125	4926											
AFAP1L1	134265	broad.mit.edu	37	chr5	148697359	148697360	+	Frame_Shift_Ins	INS	-	-	AGTT													gcctgaagtgcaacactctgINStatttccacaaggatcacat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:148697359_148697360insAGTT	ENST00000296721.4	+	12	1433_1434	c.1335_1336insAGTT	c.(1336-1338)tatfs	p.Y446fs	AFAP1L1_ENST00000515000.1_Frame_Shift_Ins_p.Y446fs	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	446	PH 2.						protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACACTCTGTATTTCCACAA	0.594											OREG0016911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	5:148697359	0	AGTT	148697360	-	AGTT	148697359	7	5	61	1	0	1	1	0	0	0	0	0	354	1364	48	0	1381	0	AFAP1L1	5	148697359	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	7933835	148697359	32217901	126	4927											
CLINT1	9685	broad.mit.edu	37	chr5	157218881	157218882	+	Frame_Shift_Ins	INS	-	-	TCATTGAATGATAGATTAGTAT													gctgattgtgagccactaacINSaagttctaccgctggctgtg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:157218881_157218882insTCATTGAATGATAGATTAGTAT	ENST00000523094.1	-	10	1360_1361	c.1155_1156insATACTAATCTATCATTCAATGA	c.(1153-1158)cttgttfs	p.V386fs	CLINT1_ENST00000411809.2_Frame_Shift_Ins_p.V404fs|CLINT1_ENST00000523908.1_Frame_Shift_Ins_p.V404fs|CLINT1_ENST00000296951.5_Frame_Shift_Ins_p.V386fs|CLINT1_ENST00000530742.1_Frame_Shift_Ins_p.V386fs	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	404					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCCACTAACAAGTTCTACCG	0.54													False	0	False	5:157218881	0	TCATTGAATGATAGATTAGTAT	157218882	-	TCATTGAATGATAGATTAGTAT	157218881	7	5	61	1	0	1	1	0	0	0	0	0	3554	478	17	0	679	0	CLINT1	5	157218881	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	8521522	157218881	23696379	127	4928											
LCP2	3937	broad.mit.edu	37	chr5	169685144	169685145	+	Frame_Shift_Ins	INS	-	-	CAGGCAGA													gagctcataggaagtagtgcINStggctggggcaaaggtctct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:169685144_169685145insCAGGCAGA	ENST00000046794.5	-	16	1611_1612	c.996_997insTCTGCCTG	c.(994-999)ccagcafs	p.A333fs	LCP2_ENST00000521416.1_Frame_Shift_Ins_p.A128fs	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	333					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGAAGTAGTGCTGGCTGGGGCA	0.5													False	0	True	5:169685144	0	CAGGCAGA	169685145	-	CAGGCAGA	169685144	7	5	61	1	0	1	1	0	0	0	0	0	8743	797	28	0	628	0	LCP2	5	169685144	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	12466263	169685144	11230116	128	4929											
CPEB4	80315	broad.mit.edu	37	chr5	173337529	173337529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtttgtgtctacaggatCgccccaggacattcgacatg	11	11	1	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:173337529C>T	ENST00000265085.5	+	2	2583	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	CPEB4_ENST00000519835.1_Missense_Mutation_p.R377C|CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377C|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377C	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	377							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTACAGGATCGCCCCAGGAC	0.368													False	0	False	5:173337529	0	T	173337529	C	T	173337529	3	4	61	1	0	0	0	0	1	0	0	0	3826	884	31	1	1135	1	CPEB4	5	173337529	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	3652385	173337529	7577731	129	4930											
DRD1	1812	broad.mit.edu	37	chr5	174869195	174869196	+	Frame_Shift_Ins	INS	-	-	ATGTT													atcaatgcagaagggctgcgINStctccccagacccacagaag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr5:174869195_174869196insATGTT	ENST00000393752.2	-	2	1899_1900	c.907_908insAACAT	c.(907-909)acgfs	p.T303fs		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	303					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GAAGGGCTGCGTCTCCCCAGAC	0.475													False	0	False	5:174869195	0	ATGTT	174869196	-	ATGTT	174869195	7	5	61	1	0	1	1	0	0	0	0	0	4786	1145	40	0	436	0	DRD1	5	174869195	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1531666	174869195	6046065	130	4931											
EEF1E1	9521	broad.mit.edu	37	chr6	8097696	8097697	+	Frame_Shift_Ins	INS	-	-	TTAATCA													attgtttgtctgaagaactgINSgaatcttaaaaagaaaaaaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:8097696_8097697insTTAATCA	ENST00000379715.5	-	2	147_148	c.91_92insTGATTAA	c.(91-93)ccafs	p.P31fs	EEF1E1_ENST00000429723.2_Frame_Shift_Ins_p.P31fs|EEF1E1-MUTED_ENST00000397456.2_Frame_Shift_Ins_p.P31fs|EEF1E1_ENST00000507463.1_Frame_Shift_Ins_p.P31fs	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	31					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					CTGAAGAACTGGAATCTTAAAA	0.351													False	0	False	6:8097696	0	TTAATCA	8097697	-	TTAATCA	8097696	7	5	61	1	0	1	1	0	0	0	0	0	4957	1348	47	0	484	0	EEF1E1	6	8097696	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		8097696	163017371	131	4932	65	2									
EEF1E1	9521	broad.mit.edu	37	chr6	8097697	8097698	+	Frame_Shift_Ins	INS	-	-	A													ttgtttgtctgaagaactggINSaatcttaaaaagaaaaaaaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:8097697_8097698insA	ENST00000379715.5	-	2	146_147	c.90_91insT	c.(88-93)attccafs	p.P31fs	EEF1E1_ENST00000429723.2_Frame_Shift_Ins_p.P31fs|EEF1E1-MUTED_ENST00000397456.2_Frame_Shift_Ins_p.P31fs|EEF1E1_ENST00000507463.1_Frame_Shift_Ins_p.P31fs	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	31					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					TGAAGAACTGGAATCTTAAAAA	0.351													False	2	False	6:8097697	0	A	8097698	-	A	8097697	7	5	61	1	0	1	1	0	0	0	0	0	4957	1174	41	0	485	0	EEF1E1	6	8097697	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	8097697	163017370	132	4933	65	2									
PHACTR1	221692	broad.mit.edu	37	chr6	13230385	13230385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcagacggatgaggagCggctggagctgaggcaacag	18	9	0	3			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:13230385C>T	ENST00000379350.1	+	9	1480	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	PHACTR1_ENST00000332995.7_Missense_Mutation_p.R451W|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R306W|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	451						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGATGAGGAGCGGCTGGAGCT	0.587													False	0	False	6:13230385	0	T	13230385	C	T	13230385	3	4	61	1	0	0	0	0	1	0	0	0	11878	759	27	1	1381	1	PHACTR1	6	13230385	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	5132688	13230385	157884682	133	4934											
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158765	26158766	+	In_Frame_Ins	INS	-	-	ATA													aaggccgtcaccaagtacacINScagttccaagtaactttgcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:26158765_26158766insATA	ENST00000289316.2	+	1	392_393	c.368_369insATA	c.(367-372)accagt>acATAcagt	p.123_124TS>TYS	HIST1H2BD_ENST00000377777.4_In_Frame_Ins_p.123_124TS>TYS	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	123					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACCAAGTACACCAGTTCCAAGT	0.52													False	0	False	6:26158765	0	ATA	26158766	-	ATA	26158765	7	5	61	1	0	1	1	0	0	0	0	0	7190	507	18	0	370	0	HIST1H2BD	6	26158765	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	12928380	26158765	144956302	134	4935	66	2									
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158766	26158767	+	Frame_Shift_Ins	INS	-	-	ACTGAAT													aggccgtcaccaagtacaccINSagttccaagtaactttgcca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:26158766_26158767insACTGAAT	ENST00000289316.2	+	1	393_394	c.369_370insACTGAAT	c.(370-372)agtfs	p.S124fs	HIST1H2BD_ENST00000377777.4_Frame_Shift_Ins_p.S124fs	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	124					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CCAAGTACACCAGTTCCAAGTA	0.52													False	0	False	6:26158766	0	ACTGAAT	26158767	-	ACTGAAT	26158766	7	5	61	1	0	1	1	0	0	0	0	0	7190	581	21	0	371	0	HIST1H2BD	6	26158766	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	26158766	144956301	135	4936	66	2									
TNXB	7148	broad.mit.edu	37	chr6	32046935	32046935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctccttgcccccaacaCgcaccgcccggggccgccca	8	23	1	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:32046935C>T	ENST00000375244.3	-	11	4451	c.4250G>A	c.(4249-4251)cGt>cAt	p.R1417H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H			P22105	TENX_HUMAN	tenascin XB	1504	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCAACACGCACCGCCCG	0.662													False	0	False	6:32046935	0	T	32046935	C	T	32046935	3	4	61	1	0	0	0	0	1	0	0	0	16428	536	19	1	10599	1	TNXB	6	32046935	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	5888169	32046935	139068132	136	4937											
RXRB	6257	broad.mit.edu	37	chr6	33165666	33165667	+	Frame_Shift_Ins	INS	-	-	GACTGCTCTCT													taaggtctttgcggatggtgINScgtttgaagaagcccttgca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:33165666_33165667insGACTGCTCTCT	ENST00000374680.3	-	4	903_904	c.692_693insAGAGAGCAGTC	c.(691-693)cgcfs	p.-231fs	RXRB_ENST00000413614.2_Frame_Shift_Ins_p.-135fs|RXRB_ENST00000374685.4_Frame_Shift_Ins_p.-231fs|RXRB_ENST00000544186.1_Frame_Shift_Ins_p.-41fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGCGGATGGTGCGTTTGAAGAA	0.53													False	0	False	6:33165666	0	GACTGCTCTCT	33165667	-	GACTGCTCTCT	33165666	7	5	61	1	0	1	1	0	0	0	0	0	13843	1306	46	0	936	0	RXRB	6	33165666	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1118731	33165666	137949401	137	4938											
MLN	4295	broad.mit.edu	37	chr6	33768838	33768839	+	Frame_Shift_Ins	INS	-	-	GAAA													cttacctgcatcctctggagINSttcgccataggtgaagatgg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:33768838_33768839insGAAA	ENST00000430124.2	-	2	167_168	c.102_103insTTTC	c.(100-105)gaactcfs	p.L35fs	MLN_ENST00000507738.1_Frame_Shift_Ins_p.L35fs|MLN_ENST00000266003.5_Frame_Shift_Ins_p.L35fs	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	35					cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						ATCCTCTGGAGTTCGCCATAGG	0.574													False	0	False	6:33768838	0	GAAA	33768839	-	GAAA	33768838	7	5	61	1	0	1	1	0	0	0	0	0	9698	1029	36	0	260	0	MLN	6	33768838	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	603172	33768838	137346229	138	4939											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34824118	34824119	+	Frame_Shift_Ins	INS	-	-	AAAA													cagagcaaaatggagaagtgINSgcatgaagagacgggtctga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:34824118_34824119insAAAA	ENST00000192788.5	+	10	1394_1395	c.1223_1224insAAAA	c.(1222-1227)tggcatfs	p.WH408fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.WH408fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	408										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ATGGAGAAGTGGCATGAAGAGA	0.535													False	0	False	6:34824118	0	AAAA	34824119	-	AAAA	34824118	7	5	61	1	0	1	1	0	0	0	0	0	17052	1357	47	0	1261	0	UHRF1BP1	6	34824118	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1055280	34824118	136290949	139	4940	67	2									
UHRF1BP1	54887	broad.mit.edu	37	chr6	34824119	34824120	+	In_Frame_Ins	INS	-	-	ATTTTAGCCCAAGAT													agagcaaaatggagaagtggINScatgaagagacgggtctgaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:34824119_34824120insATTTTAGCCCAAGAT	ENST00000192788.5	+	10	1395_1396	c.1224_1225insATTTTAGCCCAAGAT	c.(1225-1227)cat>ATTTTAGCCCAAGATcat	p.408_409insILAQD	UHRF1BP1_ENST00000452449.2_In_Frame_Ins_p.408_409insILAQD	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	408										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGAGAAGTGGCATGAAGAGAC	0.53													False	0	False	6:34824119	0	ATTTTAGCCCAAGAT	34824120	-	ATTTTAGCCCAAGAT	34824119	7	5	61	1	0	1	1	0	0	0	0	0	17052	1212	42	0	1262	0	UHRF1BP1	6	34824119	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	34824119	136290948	140	4941	67	2									
TNFRSF21	27242	broad.mit.edu	37	chr6	47254274	47254275	+	In_Frame_Ins	INS	-	-	CCCCAT													tcaacatggcggtatgtgccINSaatgagattcgaggccttct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:47254274_47254275insCCCCAT	ENST00000296861.2	-	2	546_547	c.153_154insATGGGG	c.(151-156)attggc>attATGGGGggc	p.51_52IG>IMGG		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	51					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CGGTATGTGCCAATGAGATTCG	0.515													False	0	False	6:47254274	0	CCCCAT	47254275	-	CCCCAT	47254274	7	5	61	1	0	1	1	0	0	0	0	0	16377	594	21	0	1833	0	TNFRSF21	6	47254274	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	12430155	47254274	123860793	141	4942											
CD109	135228	broad.mit.edu	37	chr6	74492428	74492429	+	Frame_Shift_Ins	INS	-	-	ACAAAATGAATGTCAATCACTTGAG													ctttgggtagcagtccacatINSgtccgaaagcattttccaga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:74492428_74492429insACAAAATGAATGTCAATCACTTGAG	ENST00000287097.5	+	18	2167_2168	c.2055_2056insACAAAATGAATGTCAATCACTTGAG	c.(2056-2058)gtcfs	p.V686fs	CD109_ENST00000437994.2_Frame_Shift_Ins_p.V686fs|CD109_ENST00000422508.2_Frame_Shift_Ins_p.V609fs			Q6YHK3	CD109_HUMAN	CD109 molecule	686	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGTCCACATGTCCGAAAGCA	0.351													False	0	False	6:74492428	0	ACAAAATGAATGTCAATCACTTGAG	74492429	-	ACAAAATGAATGTCAATCACTTGAG	74492428	7	5	61	1	0	1	1	0	0	0	0	0	2986	1461	51	0	2125	0	CD109	6	74492428	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	27238154	74492428	96622639	142	4943											
GRIK2	2898	broad.mit.edu	37	chr6	102503417	102503429	+	Frame_Shift_Del	DEL	TTTTTATACAAAT	TTTTTATACAAAT	-													tttttgtggcagtgggagaaTttttatacaaatccaaaaaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TTTTTATACAAAT	TTTTTATACAAAT	-	-	TTTTTATACAAAT	TTTTTATACAAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:102503417_102503429delTTTTTATACAAAT	ENST00000369138.1	+	15	3014_3026	c.2524_2536delTTTTTATACAAAT	c.(2524-2538)tttttatacaaatccfs	p.FLYKS842fs	GRIK2_ENST00000318991.6_Frame_Shift_Del_p.FLYKS842fs|GRIK2_ENST00000413795.1_Frame_Shift_Del_p.FLYKS842fs|GRIK2_ENST00000369137.3_Frame_Shift_Del_p.FLYKS766fs|GRIK2_ENST00000369134.4_Frame_Shift_Del_p.FLYKS793fs|GRIK2_ENST00000421544.1_Frame_Shift_Del_p.FLYKS842fs	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	842					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.Y844*(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGTGGGAGAATTTTTATACAAATCCAAAAAAAA	0.371													False	1	False	6:102503417	0	-	102503429	TTTTTATACAAAT	-	102503417	7	5	61	1	0	1	0	1	0	0	0	0	6821	1493	52	0	2582	0	GRIK2	6	102503417	Frame_Shift_Del	DEL	TTTTTATACAAAT	TCGA-HZ-7925-01A-11D-2154-08	28010989	102503417	68611650	143	4944											
POPDC3	64208	broad.mit.edu	37	chr6	105609597	105609598	+	Frame_Shift_Ins	INS	-	-	GATTGCTTTG													ccaagcccagacagcagaacINSagagaaaacccaaccccagc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:105609597_105609598insGATTGCTTTG	ENST00000254765.3	-	2	465_466	c.187_188insCAAAGCAATC	c.(187-189)tgtfs	p.C63fs	BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	63						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GACAGCAGAACAGAGAAAACCC	0.421													False	0	False	6:105609597	0	GATTGCTTTG	105609598	-	GATTGCTTTG	105609597	7	5	61	1	0	1	1	0	0	0	0	0	12325	478	17	0	699	0	POPDC3	6	105609597	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3106180	105609597	65505470	144	4945											
THEMIS	387357	broad.mit.edu	37	chr6	128134142	128134143	+	Frame_Shift_Ins	INS	-	-	TGTGTTTTGCTTA													gtgggggatgtgaggctgagINSctttcatatctccgcatcat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:128134142_128134143insTGTGTTTTGCTTA	ENST00000368250.1	-	5	1904_1905	c.1406_1407insTAAGCAAAACACA	c.(1405-1407)agcfs	p.-469fs	THEMIS_ENST00000537166.1_Frame_Shift_Ins_p.-513fs|THEMIS_ENST00000368248.2_Frame_Shift_Ins_p.-548fs|THEMIS_ENST00000543064.1_Frame_Shift_Ins_p.-548fs			Q8N1K5	THMS1_HUMAN	thymocyte selection associated						negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.S548T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GTGAGGCTGAGCTTTCATATCT	0.465													False	0	True	6:128134142	0	TGTGTTTTGCTTA	128134143	-	TGTGTTTTGCTTA	128134142	7	5	61	1	0	1	1	0	0	0	0	0	15942	962	34	0	414	0	THEMIS	6	128134142	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	22524545	128134142	42980925	145	4946											
HIVEP2	3097	broad.mit.edu	37	chr6	143095710	143095711	+	Frame_Shift_Ins	INS	-	-	TTTTCCTATA													tgtgctgatgctgtgtttccINSgatttgctcaggctctattt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:143095710_143095711insTTTTCCTATA	ENST00000367604.1	-	4	804_805	c.165_166insTATAGGAAAA	c.(163-168)atcggafs	p.G56fs	HIVEP2_ENST00000367603.2_Frame_Shift_Ins_p.G56fs|HIVEP2_ENST00000012134.2_Frame_Shift_Ins_p.G56fs			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I55I(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCTGTGTTTCCGATTTGCTCAG	0.495													False	0	False	6:143095710	0	TTTTCCTATA	143095711	-	TTTTCCTATA	143095710	7	5	61	1	0	1	1	0	0	0	0	0	7234	661	23	0	7198	0	HIVEP2	6	143095710	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	14961568	143095710	28019357	146	4947											
UTRN	7402	broad.mit.edu	37	chr6	144999699	144999700	+	Frame_Shift_Ins	INS	-	-	TAGATAATGCAAGTGTTAGGAATCAGTATATCTTT													tggaatgacttaaaagcaaaINSatctgctagcatcaggtcag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:144999699_144999700insTAGATAATGCAAGTGTTAGGAATCAGTATATCTTT	ENST00000367545.3	+	51	7637_7638	c.7637_7638insTAGATAATGCAAGTGTTAGGAATCAGTATATCTTT	c.(7636-7641)aaatctfs	p.KS2546fs	UTRN_ENST00000367526.4_Frame_Shift_Ins_p.KS101fs	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2546					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTAAAAGCAAAATCTGCTAGCA	0.371													False	0	True	6:144999699	0	TAGATAATGCAAGTGTTAGGAATCAGTATATCTTT	144999700	-	TAGATAATGCAAGTGTTAGGAATCAGTATATCTTT	144999699	7	5	61	1	0	1	1	0	0	0	0	0	17187	14	1	0	7839	0	UTRN	6	144999699	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1903989	144999699	26115368	147	4948											
SYNE1	23345	broad.mit.edu	37	chr6	152642949	152642950	+	Frame_Shift_Ins	INS	-	-	TTTTAGTTGAACATACTTGTTT													atttcacagaattgatctgaINSgtctccaccatttctcggtc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr6:152642949_152642950insTTTTAGTTGAACATACTTGTTT	ENST00000367255.5	-	83	16590_16591	c.15989_15990insAAACAAGTATGTTCAACTAAAA	c.(15988-15990)actfs	p.-5330fs	SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.-5330fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.-5259fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.-5259fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.-5003fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATTGATCTGAGTCTCCACCAT	0.391										HNSCC(10;0.0054)			False	0	False	6:152642949	0	TTTTAGTTGAACATACTTGTTT	152642950	-	TTTTAGTTGAACATACTTGTTT	152642949	7	5	61	1	0	1	1	0	0	0	0	0	15527	291	11	0	10732	0	SYNE1	6	152642949	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	7643250	152642949	18472118	148	4949											
COL28A1	340267	broad.mit.edu	37	chr7	7398398	7398399	+	Frame_Shift_Ins	INS	-	-	CAATACAAAT													catcgaaccacatattcaccINSacagtttccaggcttcaagg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:7398398_7398399insCAATACAAAT	ENST00000399429.3	-	35	3383_3384	c.3243_3244insATTTGTATTG	c.(3241-3246)tgtggtfs	p.CG1081fs		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1081	BPTI/Kunitz inhibitor.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACATATTCACCACAGTTTCCAG	0.391													False	0	False	7:7398398	0	CAATACAAAT	7398399	-	CAATACAAAT	7398398	7	5	61	1	0	1	1	0	0	0	0	0	3709	594	21	0	137	0	COL28A1	7	7398398	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		7398398	151740265	149	4950											
STK31	56164	broad.mit.edu	37	chr7	23775195	23775196	+	Frame_Shift_Ins	INS	-	-	ATCTCTATATTACTTTGCTGTTGGCT													gcttgatttttgaaaaggaaINSataaaaatgagaattaaagc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:23775195_23775196insATCTCTATATTACTTTGCTGTTGGCT	ENST00000354639.3	+	7	917_918	c.453_454insATCTCTATATTACTTTGCTGTTGGCT	c.(454-456)atafs	p.-152fs	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Frame_Shift_Ins_p.-152fs|STK31_ENST00000433467.2_Frame_Shift_Ins_p.-175fs|STK31_ENST00000355870.3_Frame_Shift_Ins_p.-175fs	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31								ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGAAAAGGAAATAAAAATGAG	0.386													False	0	True	7:23775195	0	ATCTCTATATTACTTTGCTGTTGGCT	23775196	-	ATCTCTATATTACTTTGCTGTTGGCT	23775195	7	5	61	1	0	1	1	0	0	0	0	0	15378	11	1	0	548	0	STK31	7	23775195	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	16376797	23775195	135363468	150	4951											
HOXA3	3200	broad.mit.edu	37	chr7	27148069	27148069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccggggggcacggggctgCgacttggagactggcccccc	17	15	0	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:27148069C>T	ENST00000396352.4	-	3	996	c.797G>A	c.(796-798)cGc>cAc	p.R266H	HOXA3_ENST00000317201.2_Missense_Mutation_p.R266H|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	266					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CACGGGGCTGCGACTTGGAGA	0.602													False	0	False	7:27148069	0	T	27148069	C	T	27148069	3	4	61	1	0	0	0	0	1	0	0	0	7340	768	27	1	538	1	HOXA3	7	27148069	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	3372874	27148069	131990594	151	4952											
NEUROD6	63974	broad.mit.edu	37	chr7	31378366	31378367	+	In_Frame_Ins	INS	-	-	GCGTATGAATCCTTC													cctgccaccaagtttgtagtINStggctgggaaagacctttgc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:31378366_31378367insGCGTATGAATCCTTC	ENST00000297142.3	-	2	838_839	c.516_517insGAAGGATTCATACGC	c.(514-519)ccaact>ccaGAAGGATTCATACGCact	p.172_173PT>PEGFIRT		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	172					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AAGTTTGTAGTTGGCTGGGAAA	0.51													False	0	False	7:31378366	0	GCGTATGAATCCTTC	31378367	-	GCGTATGAATCCTTC	31378366	7	5	61	1	0	1	1	0	0	0	0	0	10419	1725	60	0	500	0	NEUROD6	7	31378366	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	4230297	31378366	127760297	152	4953											
GRB10	2887	broad.mit.edu	37	chr7	50683966	50683967	+	Frame_Shift_Ins	INS	-	-	CTTAATAAGC													cgcaaacacacatacagcttINStttccatgatttctttccca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:50683966_50683967insCTTAATAAGC	ENST00000403097.1	-	10	1686_1687	c.906_907insGCTTATTAAG	c.(904-909)aaaaagfs	p.K303fs	GRB10_ENST00000398812.2_Frame_Shift_Ins_p.K309fs|GRB10_ENST00000402497.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000407526.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000439599.1_Frame_Shift_Ins_p.K303fs|GRB10_ENST00000406641.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000335866.3_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000357271.5_Intron|GRB10_ENST00000402578.1_Frame_Shift_Ins_p.K251fs|GRB10_ENST00000401949.1_Frame_Shift_Ins_p.K309fs|GRB10_ENST00000398810.2_Frame_Shift_Ins_p.K251fs			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	309	PH.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ACATACAGCTTTTTCCATGATT	0.406									Russell-Silver syndrome				False	0	True	7:50683966	0	CTTAATAAGC	50683967	-	CTTAATAAGC	50683966	7	5	61	1	0	1	1	0	0	0	0	0	6803	1850	64	0	895	0	GRB10	7	50683966	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	19305600	50683966	108454697	153	4954											
COBL	23242	broad.mit.edu	37	chr7	51153000	51153001	+	Splice_Site	INS	-	-	TTAAT													aatctgtgacccaagagataINScctatgaagtacaaagaagg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:51153000_51153001insTTAAT	ENST00000265136.7	-	7	1123_1124	c.958_959insATTAA	c.(958-960)gta>gATTAAta	p.V320fs	COBL_ENST00000395542.2_Splice_Site_p.V345fs|COBL_ENST00000395540.2_Splice_Site_p.V320fs|COBL_ENST00000441453.1_Splice_Site_p.V320fs	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	320	Pro-rich.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCCAAGAGATACCTATGAAGTA	0.51													False	0	False	7:51153000	0	TTAAT	51153001	-	TTAAT	51153000	8	5	61	1	0	1	1	0	0	0	1	0	3676	405	14	0	2854	0	COBL	7	51153000	Splice_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	469034	51153000	107985663	154	4955											
ZNF273	10793	broad.mit.edu	37	chr7	64388279	64388280	+	In_Frame_Ins	INS	-	-	TGTCCATATTTTCCATATCTTCTCAGTATC													aagtccttcataaattctcaINSaattcaaatatacataagaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:64388279_64388280insTGTCCATATTTTCCATATCTTCTCAGTATC	ENST00000476120.1	+	4	644_645	c.573_574insTGTCCATATTTTCCATATCTTCTCAGTATC	c.(574-576)aat>TGTCCATATTTTCCATATCTTCTCAGTATCaat	p.191_192insCPYFPYLLSI	ZNF273_ENST00000319636.5_In_Frame_Ins_p.126_127insCPYFPYLLSI|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				ATAAATTCTCAAATTCAAATAT	0.302													False	0	True	7:64388279	0	TGTCCATATTTTCCATATCTTCTCAGTATC	64388280	-	TGTCCATATTTTCCATATCTTCTCAGTATC	64388279	7	5	61	1	0	1	1	0	0	0	0	0	17891	117	5	0	587	0	ZNF273	7	64388279	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	13235279	64388279	94750384	155	4956											
LRRC4	64101	broad.mit.edu	37	chr7	127669550	127669551	+	In_Frame_Ins	INS	-	-	CACAGTAACAGT													ttgggcagcaaccacttcacINSggaggacatagggggagtcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:127669550_127669551insCACAGTAACAGT	ENST00000249363.3	-	2	1400_1401	c.1143_1144insACTGTTACTGTG	c.(1141-1146)tccgtg>tccACTGTTACTGTGgtg	p.381_382SV>STVTVV	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	381	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AACCACTTCACGGAGGACATAG	0.579													False	0	False	7:127669550	0	CACAGTAACAGT	127669551	-	CACAGTAACAGT	127669550	7	5	61	1	0	1	1	0	0	0	0	0	9059	536	19	0	821	0	LRRC4	7	127669550	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	63281271	127669550	31469113	156	4957											
TAS2R3	50831	broad.mit.edu	37	chr7	141464367	141464368	+	In_Frame_Ins	INS	-	-	AGAATTCTATTAAAAAACTAT													ggtatggatgctgttgggtgINScactgctcttatcctgtggt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:141464367_141464368insAGAATTCTATTAAAAAACTAT	ENST00000247879.2	+	1	471_472	c.409_410insAGAATTCTATTAAAAAACTAT	c.(409-411)gca>gAGAATTCTATTAAAAAACTATca	p.137_137A>ENSIKKLS	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	137					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GCTGTTGGGTGCACTGCTCTTA	0.485													False	0	False	7:141464367	0	AGAATTCTATTAAAAAACTAT	141464368	-	AGAATTCTATTAAAAAACTAT	141464367	7	5	61	1	0	1	1	0	0	0	0	0	15654	1319	46	0	411	0	TAS2R3	7	141464367	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	13794817	141464367	17674296	157	4958											
RNF32	140545	broad.mit.edu	37	chr7	156437351	156437352	+	Frame_Shift_Ins	INS	-	-	T													taaaaagagatacaaaggcaINSataatagatactggacttaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:156437351_156437352insT	ENST00000392741.2	+	2	262_263	c.174_175insT	c.(175-177)atafs	p.I59fs	RNF32_ENST00000343665.4_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000432459.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000405335.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	59						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATACAAAGGCAATAATAGATAC	0.361													False	0	False	7:156437351	0	T	156437352	-	T	156437351	7	5	61	1	0	1	1	0	0	0	0	0	13567	117	5	0	180	0	RNF32	7	156437351	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	14972984	156437351	2701312	158	4959	68	2									
RNF32	140545	broad.mit.edu	37	chr7	156437352	156437353	+	Frame_Shift_Ins	INS	-	-	TTTAGAGGAGTATTATG													aaaaagagatacaaaggcaaINStaatagatactggacttaaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr7:156437352_156437353insTTTAGAGGAGTATTATG	ENST00000392741.2	+	2	263_264	c.175_176insTTTAGAGGAGTATTATG	c.(175-177)atafs	p.-59fs	RNF32_ENST00000343665.4_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000432459.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000405335.1_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32							aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TACAAAGGCAATAATAGATACT	0.361													False	0	False	7:156437352	0	TTTAGAGGAGTATTATG	156437353	-	TTTAGAGGAGTATTATG	156437352	7	5	61	1	0	1	1	0	0	0	0	0	13567	101	4	0	181	0	RNF32	7	156437352	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	156437352	2701311	159	4960	68	2									
LEPROTL1	23484	broad.mit.edu	37	chr8	29961992	29961993	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAAATA													ctccctattgtatttgccagINSagcacatctggtaagtgaat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:29961992_29961993insAAAAAGAAAAATA	ENST00000442880.2	+	3	357_358	c.269_270insAAAAAGAAAAATA	c.(268-273)agagcafs	p.A91fs	LEPROTL1_ENST00000518192.1_Frame_Shift_Ins_p.A114fs|LEPROTL1_ENST00000523116.1_Frame_Shift_Ins_p.A91fs|LEPROTL1_ENST00000518001.1_Frame_Shift_Ins_p.A30fs|LEPROTL1_ENST00000321250.8_Frame_Shift_Ins_p.A91fs			O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	91						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)	5				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GTATTTGCCAGAGCACATCTGG	0.356													False	0	False	8:29961992	0	AAAAAGAAAAATA	29961993	-	AAAAAGAAAAATA	29961992	7	5	61	1	0	1	1	0	0	0	0	0	8784	942	33	0	279	0	LEPROTL1	8	29961992	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		29961992	116402030	160	4961											
TEX15	56154	broad.mit.edu	37	chr8	30701885	30701886	+	In_Frame_Ins	INS	-	-	GATTTTAAAGAAAAA													tgtcaagtcagactgcgagtINSctttactaactttaatttcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:30701885_30701886insGATTTTAAAGAAAAA	ENST00000256246.2	-	1	4722_4723	c.4648_4649insTTTTTCTTTAAAATC	c.(4648-4650)gac>gTTTTTCTTTAAAATCac	p.1550_1550D>VFL*NH		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1550										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGACTGCGAGTCTTTACTAACT	0.386													False	0	True	8:30701885	0	GATTTTAAAGAAAAA	30701886	-	GATTTTAAAGAAAAA	30701885	7	5	61	1	0	1	1	0	0	0	0	0	15861	1667	58	0	3736	0	TEX15	8	30701885	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	739893	30701885	115662137	161	4962											
ADAM9	8754	broad.mit.edu	37	chr8	38940590	38940591	+	In_Frame_Ins	INS	-	-	GCTTAC													gacagtggacctacatacaaINStggcaagtaatatagaagaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:38940590_38940591insGCTTAC	ENST00000487273.2	+	18	2144_2145	c.2066_2067insGCTTAC	c.(2065-2070)aatgaa>aaGCTTACtgaa	p.689_689N>KLT		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	689	EGF-like.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CCTACATACAATGGCAAGTAAT	0.441													False	0	False	8:38940590	0	GCTTAC	38940591	-	GCTTAC	38940590	7	5	61	1	0	1	1	0	0	0	0	0	253	101	4	0	2136	0	ADAM9	8	38940590	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	8238705	38940590	107423432	162	4963											
RP1	6101	broad.mit.edu	37	chr8	55538238	55538239	+	In_Frame_Ins	INS	-	-	CACTTGACT													aagaacttcaaaacttatggINStaacaccaatgataggttca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:55538238_55538239insCACTTGACT	ENST00000220676.1	+	4	1944_1945	c.1796_1797insCACTTGACT	c.(1795-1800)ggtaac>ggCACTTGACTtaac	p.599_600GN>GT*LN		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	599					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAACTTATGGTAACACCAATG	0.366													False	0	False	8:55538238	0	CACTTGACT	55538239	-	CACTTGACT	55538238	7	5	61	1	0	1	1	0	0	0	0	0	13611	1261	44	0	1806	0	RP1	8	55538238	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	16597648	55538238	90825784	163	4964											
C8orf34	116328	broad.mit.edu	37	chr8	69358644	69358645	+	In_Frame_Ins	INS	-	-	TAATGTACCCACGCAAAG													gaagcctaaaaaatcaaaaaINSgtgaccttgctgtgtctaat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:69358644_69358645insTAATGTACCCACGCAAAG	ENST00000337103.4	+	2	1815_1816	c.223_224insTAATGTACCCACGCAAAG	c.(223-225)agt>aTAATGTACCCACGCAAAGgt	p.75_75S>IMYPRKG	C8orf34_ENST00000539993.1_In_Frame_Ins_p.100_100S>IMYPRKG|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_In_Frame_Ins_p.186_186S>IMYPRKG|C8orf34_ENST00000348340.2_In_Frame_Ins_p.100_100S>IMYPRKG|C8orf34_ENST00000523686.1_In_Frame_Ins_p.100_100S>IMYPRKG			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	100			K -> N (in a colorectal cancer sample; somatic mutation).		signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AAAATCAAAAAGTGACCTTGCT	0.332													False	0	True	8:69358644	0	TAATGTACCCACGCAAAG	69358645	-	TAATGTACCCACGCAAAG	69358644	7	5	61	1	0	1	1	0	0	0	0	0	2442	72	3	0	229	0	C8orf34	8	69358644	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	13820406	69358644	77005378	164	4965											
ATP6V0D2	245972	broad.mit.edu	37	chr8	87151756	87151757	+	In_Frame_Ins	INS	-	-	ATACATGAGTCTCTT													gaaaaaatctgtgaaagaaaINSttctggggaagtgccacccc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:87151756_87151757insATACATGAGTCTCTT	ENST00000285393.3	+	3	515_516	c.373_374insATACATGAGTCTCTT	c.(373-375)att>aATACATGAGTCTCTTtt	p.125_125I>NT*VSF	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	125					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TGTGAAAGAAATTCTGGGGAAG	0.426													False	0	True	8:87151756	0	ATACATGAGTCTCTT	87151757	-	ATACATGAGTCTCTT	87151756	7	5	61	1	0	1	1	0	0	0	0	0	1178	101	4	0	383	0	ATP6V0D2	8	87151756	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	17793112	87151756	59212266	165	4966											
KLF10	7071	broad.mit.edu	37	chr8	103663560	103663561	+	Frame_Shift_Ins	INS	-	-	ACGAGGA													ctggtgccattcgggctcacINScaccggaggctttgaactct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:103663560_103663561insACGAGGA	ENST00000395884.3	-	3	1868_1869	c.966_967insTCCTCGT	c.(964-969)gtggtgfs	p.V323fs	KLF10_ENST00000285407.6_Frame_Shift_Ins_p.V334fs	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	334					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TTCGGGCTCACCACCGGAGGCT	0.554													False	0	False	8:103663560	0	ACGAGGA	103663561	-	ACGAGGA	103663560	7	5	61	1	0	1	1	0	0	0	0	0	8388	507	18	0	450	0	KLF10	8	103663560	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	16511804	103663560	42700462	166	4967											
OXR1	55074	broad.mit.edu	37	chr8	107726158	107726159	+	Frame_Shift_Ins	INS	-	-	TAAATCTT													atagtagtaaaaaagattgaINSggagtctgaaacaattgagg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:107726158_107726159insTAAATCTT	ENST00000517566.2	+	10	2039_2040	c.1901_1902insTAAATCTT	c.(1900-1905)gaggagfs	p.EE634fs	OXR1_ENST00000531443.1_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000442977.2_Frame_Shift_Ins_p.EE635fs|OXR1_ENST00000452423.2_Frame_Shift_Ins_p.EE124fs|OXR1_ENST00000445937.1_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000312046.6_Frame_Shift_Ins_p.EE627fs	NM_001198533.1	NP_001185462.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	635					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAGATTGAGGAGTCTGAAA	0.361													False	0	False	8:107726158	0	TAAATCTT	107726159	-	TAAATCTT	107726158	7	5	61	1	0	1	1	0	0	0	0	0	11402	304	11	0	2142	0	OXR1	8	107726158	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	4062598	107726158	38637864	167	4968											
COL14A1	7373	broad.mit.edu	37	chr8	121209115	121209116	+	Frame_Shift_Ins	INS	-	-	AAAAACAGTCCATCTTAATGTCTTTT													gtattggaagattcaacttcINSagactggttcggcatttctt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:121209115_121209116insAAAAACAGTCCATCTTAATGTCTTTT	ENST00000297848.3	+	6	792_793	c.522_523insAAAAACAGTCCATCTTAATGTCTTTT	c.(523-525)agafs	p.R175fs	COL14A1_ENST00000309791.4_Frame_Shift_Ins_p.R175fs|COL14A1_ENST00000537875.1_Frame_Shift_Ins_p.R175fs|COL14A1_ENST00000247781.3_Frame_Shift_Ins_p.R175fs|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	175	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATTCAACTTCAGACTGGTTCG	0.411													False	0	False	8:121209115	0	AAAAACAGTCCATCTTAATGTCTTTT	121209116	-	AAAAACAGTCCATCTTAATGTCTTTT	121209115	7	5	61	1	0	1	1	0	0	0	0	0	3694	825	29	0	540	0	COL14A1	8	121209115	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	13482957	121209115	25154907	168	4969											
TG	7038	broad.mit.edu	37	chr8	133984913	133984914	+	Frame_Shift_Ins	INS	-	-	TAATAAA													gtgaggagaatggaggagccINStggcgcattttggactgtgg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:133984913_133984914insTAATAAA	ENST00000220616.4	+	34	6166_6167	c.6126_6127insTAATAAA	c.(6127-6129)tggfs	p.W2043fs	TG_ENST00000519543.1_Frame_Shift_Ins_p.W197fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.W1986fs|TG_ENST00000542445.1_Frame_Shift_Ins_p.W413fs|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2043					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGGAGGAGCCTGGCGCATTTT	0.48													False	0	False	8:133984913	0	TAATAAA	133984914	-	TAATAAA	133984913	7	5	61	1	0	1	1	0	0	0	0	0	15895	668	24	0	6260	0	TG	8	133984913	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	12775798	133984913	12379109	169	4970											
PTK2	5747	broad.mit.edu	37	chr8	141774447	141774448	+	In_Frame_Ins	INS	-	-	AAAAGTTATTGATACTTACTGTCTTTTTAGAGC													catctgacctcctggtatttINScatataattaaagtaggcaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:141774447_141774448insAAAAGTTATTGATACTTACTGTCTTTTTAGAGC	ENST00000519465.1	-	1	174_175	c.3_4insGCTCTAAAAAGACAGTAAGTATCAATAACTTTT	c.(1-6)atgaaa>atgGCTCTAAAAAGACAGTAAGTATCAATAACTTTTaaa	p.1_2MK>MALKRQ*VSITFK	PTK2_ENST00000517887.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000520151.1_In_Frame_Ins_p.1_2MK>MALKRQ*VSITFK|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000535192.1_Intron			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	0					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCCTGGTATTTCATATAATTAA	0.327													False	0	True	8:141774447	0	AAAAGTTATTGATACTTACTGTCTTTTTAGAGC	141774448	-	AAAAGTTATTGATACTTACTGTCTTTTTAGAGC	141774447	7	5	61	1	0	1	1	0	0	0	0	0	12839	1798	62	0		0	PTK2	8	141774447	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	7789534	141774447	4589575	170	4971	69	2									
PTK2	5747	broad.mit.edu	37	chr8	141774449	141774450	+	Translation_Start_Site	INS	-	-	TT													tctgacctcctggtatttcaINStataattaaagtaggcaaag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr8:141774449_141774450insTT	ENST00000519465.1	-	0	172_173				PTK2_ENST00000517887.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000520151.1_Start_Codon_Ins|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000535192.1_Intron			Q05397	FAK1_HUMAN	protein tyrosine kinase 2						axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTGGTATTTCATATAATTAAAG	0.327													False	1	False	8:141774449	0	TT	141774450	-	TT	141774449	6	5	61	1	0	1	1	0	0	0	0	0	12839	232	8	0		0	PTK2	8	141774449	Translation_Start_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	141774449	4589573	171	4972	69	2									
JAK2	3717	broad.mit.edu	37	chr9	5050796	5050797	+	In_Frame_Ins	INS	-	-	CAAAAATTT													tgagaatagccaaagaaaacINSgatcaaaccccactggccat					rs41302214		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:5050796_5050797insCAAAAATTT	ENST00000381652.3	+	6	1073_1074	c.579_580insCAAAAATTT	c.(580-582)gat>CAAAAATTTgat	p.193_194insQKF	JAK2_ENST00000539801.1_In_Frame_Ins_p.193_194insQKF|JAK2_ENST00000544510.1_In_Frame_Ins_p.44_45insQKF	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	193	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CCAAAGAAAACGATCAAACCCC	0.356		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				False	0	False	9:5050796	0	CAAAAATTT	5050797	-	CAAAAATTT	5050796	7	5	61	1	0	1	1	0	0	0	0	0	7988	535	19	0	593	0	JAK2	9	5050796	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		5050796	136162635	172	4973	70	2									
JAK2	3717	broad.mit.edu	37	chr9	5050797	5050798	+	Frame_Shift_Ins	INS	-	-	AAGGAAATATCTC													gagaatagccaaagaaaacgINSatcaaaccccactggccatc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:5050797_5050798insAAGGAAATATCTC	ENST00000381652.3	+	6	1074_1075	c.580_581insAAGGAAATATCTC	c.(580-582)gatfs	p.D194fs	JAK2_ENST00000539801.1_Frame_Shift_Ins_p.D194fs|JAK2_ENST00000544510.1_Frame_Shift_Ins_p.D45fs	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	194	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CAAAGAAAACGATCAAACCCCA	0.356		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				False	0	False	9:5050797	0	AAGGAAATATCTC	5050798	-	AAGGAAATATCTC	5050797	7	5	61	1	0	1	1	0	0	0	0	0	7988	1058	37	0	594	0	JAK2	9	5050797	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	5050797	136162634	173	4974	70	2									
PTPRD	5789	broad.mit.edu	37	chr9	8449812	8449813	+	In_Frame_Ins	INS	-	-	ATTTTACTATTA													ttgttcggtatgctgcttttINStctagagtcggactctgccc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:8449812_8449813insATTTTACTATTA	ENST00000381196.4	-	31	4443_4444	c.3900_3901insTAATAGTAAAAT	c.(3898-3903)agaaaa>agaTAATAGTAAAATaaa	p.1300_1301RK>R***NK	PTPRD_ENST00000540109.1_In_Frame_Ins_p.1300_1301RK>R***NK|PTPRD_ENST00000360074.4_In_Frame_Ins_p.1287_1288RK>R***NK|PTPRD_ENST00000358503.5_In_Frame_Ins_p.1278_1279RK>R***NK|PTPRD_ENST00000486161.1_In_Frame_Ins_p.893_894RK>R***NK|PTPRD_ENST00000356435.5_In_Frame_Ins_p.1300_1301RK>R***NK|PTPRD_ENST00000355233.5_In_Frame_Ins_p.894_895RK>R***NK|PTPRD_ENST00000397606.3_In_Frame_Ins_p.879_880RK>R***NK|PTPRD_ENST00000397611.3_In_Frame_Ins_p.890_891RK>R***NK|PTPRD_ENST00000537002.1_In_Frame_Ins_p.890_891RK>R***NK|PTPRD_ENST00000397617.3_In_Frame_Ins_p.879_880RK>R***NK	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1300					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGCTGCTTTTTCTAGAGTCGG	0.421										TSP Lung(15;0.13)			False	0	True	9:8449812	0	ATTTTACTATTA	8449813	-	ATTTTACTATTA	8449812	7	5	61	1	0	1	1	0	0	0	0	0	12878	1850	64	0	1935	0	PTPRD	9	8449812	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3399015	8449812	132763619	174	4975											
UBE2R2	54926	broad.mit.edu	37	chr9	33912085	33912086	+	Frame_Shift_Ins	INS	-	-	ATGAATACCCATATTTACA													gaaaagacaaagaatatgctINSgaaattattaggtaaggttt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:33912085_33912086insATGAATACCCATATTTACA	ENST00000263228.3	+	4	677_678	c.486_487insATGAATACCCATATTTACA	c.(487-489)gaafs	p.E163fs		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	163					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		AAGAATATGCTGAAATTATTAG	0.351													False	0	True	9:33912085	0	ATGAATACCCATATTTACA	33912086	-	ATGAATACCCATATTTACA	33912085	7	5	61	1	0	1	1	0	0	0	0	0	16955	1567	55	0	500	0	UBE2R2	9	33912085	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	25462273	33912085	107301346	175	4976											
TRPM6	140803	broad.mit.edu	37	chr9	77423011	77423011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttctagtgtagttgctgCgatatgctctaccaatgagg	11	7	2	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:77423011C>T	ENST00000451710.3	-	14	1814	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	TRPM6_ENST00000449912.2_Missense_Mutation_p.R521H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R526H|TRPM6_ENST00000360774.1_Missense_Mutation_p.R526H|TRPM6_ENST00000361255.3_Missense_Mutation_p.R521H|TRPM6_ENST00000376872.3_Missense_Mutation_p.R526H			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	526					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGTTGCTGCGATATGCTCT	0.388													False	0	False	9:77423011	0	T	77423011	C	T	77423011	3	4	61	1	0	0	0	0	1	0	0	0	16673	768	27	1	4595	1	TRPM6	9	77423011	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	43510926	77423011	63790420	176	4977											
VPS13A	23230	broad.mit.edu	37	chr9	79968551	79968552	+	Frame_Shift_Ins	INS	-	-	CATCATA													gaagtagcctatataggcatINStacaaggttagatgcattaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:79968551_79968552insCATCATA	ENST00000360280.3	+	54	7906_7907	c.7646_7647insCATCATA	c.(7645-7650)attacafs	p.T2550fs	VPS13A_ENST00000357409.5_Frame_Shift_Ins_p.T2550fs|VPS13A_ENST00000376634.4_Frame_Shift_Ins_p.T2550fs|VPS13A_ENST00000376636.3_Frame_Shift_Ins_p.T2511fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2550					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATATAGGCATTACAAGGTTAG	0.307													False	0	False	9:79968551	0	CATCATA	79968552	-	CATCATA	79968551	7	5	61	1	0	1	1	0	0	0	0	0	17273	1493	52	0	7860	0	VPS13A	9	79968551	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2545540	79968551	61244880	177	4978											
BSPRY	54836	broad.mit.edu	37	chr9	116116618	116116619	+	Splice_Site	INS	-	-	ATTTTCTCCT													ggaagaatcaaagagcagtgINSgtaattcctcttctttcctc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:116116618_116116619insATTTTCTCCT	ENST00000374183.4	+	2	339	c.300_300insATTTTCTCCT	c.(301-303)agc>agATTTTCTCCTc	p.S101fs	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	101					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAAGAGCAGTGGTAATTCCTCT	0.525													False	0	False	9:116116618	0	ATTTTCTCCT	116116619	-	ATTTTCTCCT	116116618	8	5	61	1	0	1	1	0	0	0	1	0	1539	1362	47	0	306	0	BSPRY	9	116116618	Splice_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	36148067	116116618	25096813	178	4979											
ENG	2022	broad.mit.edu	37	chr9	130588944	130588944	+	Frame_Shift_Del	DEL	C	C	-													gctcttggaaggtgaccaggCtggaattctggggagacatg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:130588944delC	ENST00000344849.3	-	4	648	c.368delG	c.(367-369)agcfs	p.S123fs	ENG_ENST00000373203.4_Frame_Shift_Del_p.S123fs			P17813	EGLN_HUMAN	endoglin	123				SSLVTFQEP -> FQPGHLPRA (in Ref. 5).	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGTGACCAGGCTGGAATTCTG	0.597									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				False	1	False	9:130588944	0	-	130588944	C	-	130588944	7	5	61	1	0	1	0	1	0	0	0	0	5149	797	28	0	1682	0	ENG	9	130588944	Frame_Shift_Del	DEL	C	TCGA-HZ-7925-01A-11D-2154-08	14472326	130588944	10624487	179	4980											
SPTAN1	6709	broad.mit.edu	37	chr9	131347071	131347072	+	Frame_Shift_Ins	INS	-	-	CATCCCCTTTATGCTAC													agcagaaattgctggacatgINSaaccacgcatcaaagcagtt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr9:131347071_131347072insCATCCCCTTTATGCTAC	ENST00000372739.3	+	18	2619_2620	c.2509_2510insCATCCCCTTTATGCTAC	c.(2509-2511)gaafs	p.E837fs	SPTAN1_ENST00000358161.5_Frame_Shift_Ins_p.E837fs|SPTAN1_ENST00000372731.4_Frame_Shift_Ins_p.E837fs	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	837					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCTGGACATGAACCACGCATC	0.48													False	0	False	9:131347071	0	CATCCCCTTTATGCTAC	131347072	-	CATCCCCTTTATGCTAC	131347071	7	5	61	1	0	1	1	0	0	0	0	0	15199	1291	45	0	2575	0	SPTAN1	9	131347071	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	758127	131347071	9866360	180	4981											
SLC39A12	221074	broad.mit.edu	37	chr10	18266903	18266904	+	Frame_Shift_Ins	INS	-	-	CATAGCTACAGCATAGATATTCCCTTACAAAGAATTCTTATCATTTTTT													gagaaaatccatcaatttcaINSaaggaaacaaaacaacataa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:18266903_18266904insCATAGCTACAGCATAGATATTCCCTTACAAAGAATTCTTATCATTTTTT	ENST00000377371.3	+	5	1022_1023	c.824_825insCATAGCTACAGCATAGATATTCCCTTACAAAGAATTCTTATCATTTTTT	c.(823-828)caaaggfs	p.QR275fs	SLC39A12_ENST00000377374.4_Frame_Shift_Ins_p.QR275fs|SLC39A12_ENST00000539911.1_Frame_Shift_Ins_p.QR141fs|SLC39A12_ENST00000377369.2_Frame_Shift_Ins_p.QR275fs			Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	275					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATCAATTTCAAAGGAAACAAA	0.371													False	0	True	10:18266903	0	CATAGCTACAGCATAGATATTCCCTTACAAAGAATTCTTATCATTTTTT	18266904	-	CATAGCTACAGCATAGATATTCCCTTACAAAGAATTCTTATCATTTTTT	18266903	7	5	61	1	0	1	1	0	0	0	0	0	14695	130	5	0	838	0	SLC39A12	10	18266903	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		18266903	117267844	181	4982											
ZNF438	220929	broad.mit.edu	37	chr10	31139086	31139087	+	In_Frame_Ins	INS	-	-	CTCCTG													ctcctggccagcaacctgcaINStcagggcatagttctgggtg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:31139086_31139087insCTCCTG	ENST00000331737.6	-	7	675_676	c.217_218insCAGGAG	c.(217-219)atg>aCAGGAGtg	p.73_73M>TGV	ZNF438_ENST00000452305.1_In_Frame_Ins_p.73_73M>TGV|ZNF438_ENST00000361310.3_In_Frame_Ins_p.83_83M>TGV|ZNF438_ENST00000442986.1_In_Frame_Ins_p.83_83M>TGV|ZNF438_ENST00000538351.1_In_Frame_Ins_p.34_34M>TGV|ZNF438_ENST00000413025.1_In_Frame_Ins_p.83_83M>TGV|ZNF438_ENST00000444692.2_In_Frame_Ins_p.73_73M>TGV|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000436087.2_In_Frame_Ins_p.83_83M>TGV	NM_001143771.1	NP_001137243.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AGCAACCTGCATCAGGGCATAG	0.525													False	0	False	10:31139086	0	CTCCTG	31139087	-	CTCCTG	31139086	7	5	61	1	0	1	1	0	0	0	0	0	17993	217	8	0	2246	0	ZNF438	10	31139086	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	12872183	31139086	104395661	182	4983											
CSTF2T	23283	broad.mit.edu	37	chr10	53457491	53457492	+	Frame_Shift_Ins	INS	-	-	TTTTT													gtggatttctggatttgttcINSctttaaaatcaggatactct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:53457491_53457492insTTTTT	ENST00000331173.4	-	1	1863_1864	c.1818_1819insAAAAA	c.(1816-1821)aaggaafs	p.E607fs	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	607					mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TGGATTTGTTCCTTTAAAATCA	0.421													False	0	True	10:53457491	0	TTTTT	53457492	-	TTTTT	53457491	7	5	61	1	0	1	1	0	0	0	0	0	4010	864	30	0	35	0	CSTF2T	10	53457491	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	22318405	53457491	82077256	183	4984	71	2									
CSTF2T	23283	broad.mit.edu	37	chr10	53457492	53457493	+	Frame_Shift_Ins	INS	-	-	TTTCTTTCTGTTTTCCTTTTTT													tggatttctggatttgttccINStttaaaatcaggatactctg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:53457492_53457493insTTTCTTTCTGTTTTCCTTTTTT	ENST00000331173.4	-	1	1862_1863	c.1817_1818insAAAAAAGGAAAACAGAAAGAAA	c.(1816-1818)aagfs	p.K606fs	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	606					mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGATTTGTTCCTTTAAAATCAG	0.426													False	0	True	10:53457492	0	TTTCTTTCTGTTTTCCTTTTTT	53457493	-	TTTCTTTCTGTTTTCCTTTTTT	53457492	7	5	61	1	0	1	1	0	0	0	0	0	4010	680	24	0	36	0	CSTF2T	10	53457492	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	53457492	82077255	184	4985	71	2									
BICC1	80114	broad.mit.edu	37	chr10	60560808	60560809	+	Splice_Site	INS	-	-	TGACAATTATCTGCA													gaaaaactcacacttacagtINSatgtattttaatctttaaag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:60560808_60560809insTGACAATTATCTGCA	ENST00000373886.3	+	14	2019		c.e14+2		BICC1_ENST00000263103.1_Splice_Site	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)						multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACACTTACAGTATGTATTTTAA	0.366													False	0	True	10:60560808	0	TGACAATTATCTGCA	60560809	-	TGACAATTATCTGCA	60560808	8	5	61	1	0	1	1	0	0	0	1	0	1432	1652	57	0	2071	0	BICC1	10	60560808	Splice_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	7103316	60560808	74973939	185	4986											
ANK3	288	broad.mit.edu	37	chr10	62149348	62149349	+	Translation_Start_Site	INS	-	-	TATGCCAGAGCAT													cggcttccttgtaaaaggtgINSatatcctcaggcacctctaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:62149348_62149349insTATGCCAGAGCAT	ENST00000280772.1	-	0	139_140				ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTAAAAGGTGATATCCTCAGG	0.406													False	0	False	10:62149348	0	TATGCCAGAGCAT	62149349	-	TATGCCAGAGCAT	62149348	6	5	61	1	0	1	1	0	0	0	0	0	622	1305	45	0		0	ANK3	10	62149348	Translation_Start_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1588540	62149348	73385399	186	4987											
CCAR1	55749	broad.mit.edu	37	chr10	70509434	70509435	+	Frame_Shift_Ins	INS	-	-	AAAA													ttcagttttcaaagttttctINSttagattggtaggttattcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:70509434_70509435insAAAA	ENST00000265872.6	+	10	1229_1230	c.1110_1111insAAAA	c.(1111-1113)ttafs	p.L371fs	CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.L356fs|CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.L356fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	371					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CAAAGTTTTCTTTAGATTGGTA	0.396													False	0	True	10:70509434	0	AAAA	70509435	-	AAAA	70509434	7	5	61	1	0	1	1	0	0	0	0	0	2750	1596	56	0	1144	0	CCAR1	10	70509434	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	8360086	70509434	65025313	187	4988	72	2									
CCAR1	55749	broad.mit.edu	37	chr10	70509436	70509437	+	Frame_Shift_Ins	INS	-	-	ACTAATATTTCTA													cagttttcaaagttttctttINSagattggtaggttattcccc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:70509436_70509437insACTAATATTTCTA	ENST00000265872.6	+	10	1231_1232	c.1112_1113insACTAATATTTCTA	c.(1111-1116)ttagatfs	p.D372fs	CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.D357fs|CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.D357fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	372					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AAGTTTTCTTTAGATTGGTAGG	0.396													False	0	True	10:70509436	0	ACTAATATTTCTA	70509437	-	ACTAATATTTCTA	70509436	7	5	61	1	0	1	1	0	0	0	0	0	2750	1764	61	0	1146	0	CCAR1	10	70509436	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	70509436	65025311	188	4989	72	2									
SORBS1	10580	broad.mit.edu	37	chr10	97117530	97117531	+	Frame_Shift_Ins	INS	-	-	CCCTATT													gagccccgtctgattccctcINSttcactgcatggaagttgga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:97117530_97117531insCCCTATT	ENST00000371227.4	-	21	2036_2037	c.1847_1848insAATAGGG	c.(1846-1848)aagfs	p.-616fs	SORBS1_ENST00000354106.3_Frame_Shift_Ins_p.-632fs|SORBS1_ENST00000371241.1_Frame_Shift_Ins_p.-368fs|SORBS1_ENST00000361941.3_Frame_Shift_Ins_p.-662fs|SORBS1_ENST00000371247.2_Frame_Shift_Ins_p.-662fs|SORBS1_ENST00000277982.5_Frame_Shift_Ins_p.-684fs|SORBS1_ENST00000607232.1_Frame_Shift_Ins_p.-429fs|SORBS1_ENST00000393949.1_Frame_Shift_Ins_p.-632fs|SORBS1_ENST00000306402.6_Frame_Shift_Ins_p.-409fs|SORBS1_ENST00000371249.2_Frame_Shift_Ins_p.-500fs|SORBS1_ENST00000347291.4_Frame_Shift_Ins_p.-474fs|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000353505.5_Frame_Shift_Ins_p.-513fs|SORBS1_ENST00000371246.2_Frame_Shift_Ins_p.-684fs|SORBS1_ENST00000371239.1_Frame_Shift_Ins_p.-439fs|SORBS1_ENST00000371245.3_Frame_Shift_Ins_p.-513fs			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1						focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGATTCCCTCTTCACTGCATG	0.406													False	0	False	10:97117530	0	CCCTATT	97117531	-	CCCTATT	97117530	7	5	61	1	0	1	1	0	0	0	0	0	15007	912	32	0	2000	0	SORBS1	10	97117530	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	26608094	97117530	38417217	189	4990											
PDZD8	118987	broad.mit.edu	37	chr10	119043489	119043490	+	Frame_Shift_Ins	INS	-	-	TC													ctagcttcagcatcaacacgINSaggaggcaggcctaagaggg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:119043489_119043490insTC	ENST00000334464.5	-	5	2993_2994	c.2754_2755insGA	c.(2752-2757)cctcgtfs	p.R919fs		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	919					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GCATCAACACGAGGAGGCAGGC	0.431													False	0	False	10:119043489	0	TC	119043490	-	TC	119043489	7	5	61	1	0	1	1	0	0	0	0	0	11773	1058	37	0	713	0	PDZD8	10	119043489	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	21925959	119043489	16491258	190	4991	73	2									
PDZD8	118987	broad.mit.edu	37	chr10	119043491	119043492	+	Frame_Shift_Ins	INS	-	-	ACAAC													agcttcagcatcaacacgagINSgaggcaggcctaagagggtt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr10:119043491_119043492insACAAC	ENST00000334464.5	-	5	2991_2992	c.2752_2753insGTTGT	c.(2752-2754)cctfs	p.P918fs		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	918					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ATCAACACGAGGAGGCAGGCCT	0.431													False	0	True	10:119043491	0	ACAAC	119043492	-	ACAAC	119043491	7	5	61	1	0	1	1	0	0	0	0	0	11773	1000	35	0	715	0	PDZD8	10	119043491	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	119043491	16491256	191	4992	73	2									
CDHR5	53841	broad.mit.edu	37	chr11	619121	619122	+	In_Frame_Ins	INS	-	-	TCAGCCGAT													tcagggggtctggggacctcINSggaagtggtgctggtccagg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:619121_619122insTCAGCCGAT	ENST00000358353.3	-	14	1759_1760	c.1437_1438insATCGGCTGA	c.(1435-1440)tccgag>tccATCGGCTGAgag	p.479_480SE>SIG*E	CDHR5_ENST00000397542.2_In_Frame_Ins_p.479_480SE>SIG*E|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	479					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CTGGGGACCTCGGAAGTGGTGC	0.688													False	0	False	11:619121	0	TCAGCCGAT	619122	-	TCAGCCGAT	619121	7	5	61	1	0	1	1	0	0	0	0	0	3145	893	31	0	1111	0	CDHR5	11	619121	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		619121	134387395	192	4993											
OR51F2	119694	broad.mit.edu	37	chr11	4843497	4843497	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatcatggccaatgtcttTctgctaatccctcctgtgct	6	13	4	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:4843497T>G	ENST00000322110.5	+	1	947	c.882T>G	c.(880-882)ttT>ttG	p.F294L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAATGTCTTTCTGCTAATCC	0.423													False	0	True	11:4843497	0	G	4843497	T	G	4843497	3	3	61	1	0	0	0	0	1	0	0	0	11165	1780	62	4	884	4	OR51F2	11	4843497	Missense_Mutation	SNP	T	TCGA-HZ-7925-01A-11D-2154-08	4224376	4843497	130163019	193	4994											
TRIM22	10346	broad.mit.edu	37	chr11	5729472	5729473	+	Frame_Shift_Ins	INS	-	-	TACTT													agagtgtattccgagtaccaINSgatctgagtgggatgctgca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:5729472_5729473insTACTT	ENST00000379965.3	+	6	1120_1121	c.843_844insTACTT	c.(844-846)gatfs	p.D282fs	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	282					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCCGAGTACCAGATCTGAGTGG	0.426													False	0	False	11:5729472	0	TACTT	5729473	-	TACTT	5729472	7	5	61	1	0	1	1	0	0	0	0	0	16579	175	7	0	861	0	TRIM22	11	5729472	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	885975	5729472	129277044	194	4995											
SMPD1	6609	broad.mit.edu	37	chr11	6412799	6412800	+	Frame_Shift_Ins	INS	-	-	CCTC													tcctgggctccacctgtgggINScactgggacattttctcatc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:6412799_6412800insCCTC	ENST00000342245.4	+	2	672_673	c.504_505insCCTC	c.(505-507)cacfs	p.H169fs	SMPD1_ENST00000356761.2_Frame_Shift_Ins_p.H169fs|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Frame_Shift_Ins_p.H169fs|SMPD1_ENST00000527275.1_Frame_Shift_Ins_p.H168fs	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	167	Saposin B-type.				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CCACCTGTGGGCACTGGGACAT	0.619													False	0	True	11:6412799	0	CCTC	6412800	-	CCTC	6412799	7	5	61	1	0	1	1	0	0	0	0	0	14884	1190	42	0	510	0	SMPD1	11	6412799	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	683327	6412799	128593717	195	4996											
FAR1	84188	broad.mit.edu	37	chr11	13732418	13732419	+	Splice_Site	INS	-	-	ATATTTTACTATAAAATAAAAAGCTACT													ttggaaagaaccttttccagINStaagttgttagaaaccttta							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:13732418_13732419insATATTTTACTATAAAATAAAAAGCTACT	ENST00000354817.3	+	5	867		c.e5+1		FAR1_ENST00000527202.1_Splice_Site	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1						ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ACCTTTTCCAGTAAGTTGTTAG	0.351													False	0	False	11:13732418	0	ATATTTTACTATAAAATAAAAAGCTACT	13732419	-	ATATTTTACTATAAAATAAAAAGCTACT	13732418	8	5	61	1	0	1	1	0	0	0	1	0	5714	1043	36	0	738	0	FAR1	11	13732418	Splice_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	7319619	13732418	121274098	196	4997											
LDHAL6A	160287	broad.mit.edu	37	chr11	18485613	18485614	+	Frame_Shift_Ins	INS	-	-	GTGATCTATGTCTAGCTTGTGAATTA													tatgaaaatgccaaatattgINStctccagcaaaggttaatgt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:18485613_18485614insGTGATCTATGTCTAGCTTGTGAATTA	ENST00000280706.2	+	2	1029_1030	c.232_233insGTGATCTATGTCTAGCTTGTGAATTA	c.(232-234)gtcfs	p.V78fs	LDHAL6A_ENST00000396213.3_Frame_Shift_Ins_p.V78fs	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	78					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	GCCAAATATTGTCTCCAGCAAA	0.351													False	0	False	11:18485613	0	GTGATCTATGTCTAGCTTGTGAATTA	18485614	-	GTGATCTATGTCTAGCTTGTGAATTA	18485613	7	5	61	1	0	1	1	0	0	0	0	0	8750	1377	48	0	238	0	LDHAL6A	11	18485613	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	4753195	18485613	116520903	197	4998											
LUZP2	338645	broad.mit.edu	37	chr11	25004806	25004807	+	Frame_Shift_Ins	INS	-	-	TAATT													tcccacccaggaatattgccINStctaagcttccagatgcagc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:25004806_25004807insTAATT	ENST00000533227.1	+	9	761_762	c.474_475insTAATT	c.(475-477)tctfs	p.S159fs	LUZP2_ENST00000336930.6_Frame_Shift_Ins_p.S245fs	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	245						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GGAATATTGCCTCTAAGCTTCC	0.441													False	0	False	11:25004806	0	TAATT	25004807	-	TAATT	25004806	7	5	61	1	0	1	1	0	0	0	0	0	9149	668	24	0	766	0	LUZP2	11	25004806	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	6519193	25004806	110001710	198	4999											
LGR4	55366	broad.mit.edu	37	chr11	27407010	27407011	+	In_Frame_Ins	INS	-	-	TCCCTTTTAATTCCATAT													ggtaatatggttggcatctaINSaacgcctaacagaaacaaaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:27407010_27407011insTCCCTTTTAATTCCATAT	ENST00000480977.2	-	3	273_274	c.262_263insATATGGAATTAAAAGGGA	c.(262-264)tta>tATATGGAATTAAAAGGGAta	p.88_88L>YMELKGI	LGR4_ENST00000379214.4_In_Frame_Ins_p.136_136L>YMELKGI|LGR4_ENST00000389858.4_In_Frame_Ins_p.112_112L>YMELKGI			Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	88						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GTTGGCATCTAAACGCCTAACA	0.426													False	0	True	11:27407010	0	TCCCTTTTAATTCCATAT	27407011	-	TCCCTTTTAATTCCATAT	27407010	7	5	61	1	0	1	1	0	0	0	0	0	8808	372	13	0	2504	0	LGR4	11	27407010	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2402204	27407010	107599506	199	5000											
GLYATL1	92292	broad.mit.edu	37	chr11	58722819	58722820	+	Frame_Shift_Ins	INS	-	-	ACCTCAGTGC													aggccacccagatgatgaatINSttgaaaggtacaaaaacatg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:58722819_58722820insACCTCAGTGC	ENST00000300079.5	+	6	627_628	c.577_578insACCTCAGTGC	c.(577-579)tttfs	p.F193fs	GLYATL1_ENST00000317391.4_Frame_Shift_Ins_p.F162fs|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	162						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AGATGATGAATTTGAAAGGTAC	0.396													False	0	True	11:58722819	0	ACCTCAGTGC	58722820	-	ACCTCAGTGC	58722819	7	5	61	1	0	1	1	0	0	0	0	0	6525	1493	52	0	599	0	GLYATL1	11	58722819	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	31315809	58722819	76283697	200	5001											
NXF1	10482	broad.mit.edu	37	chr11	62564003	62564004	+	Frame_Shift_Ins	INS	-	-	A													catggtaggcatccaggagcINSccttgtcggtctccagagtc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:62564003_62564004insA	ENST00000532297.1	-	15	1843_1844	c.1214_1215insT	c.(1213-1215)gggfs	p.G405fs	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Frame_Shift_Ins_p.G405fs			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	405	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATCCAGGAGCCCTTGTCGGTC	0.51													False	0	True	11:62564003	0	A	62564004	-	A	62564003	7	5	61	1	0	1	1	0	0	0	0	0	10850	726	26	0	676	0	NXF1	11	62564003	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3841184	62564003	72442513	201	5002											
MEN1	0	broad.mit.edu	37	chr11	64575469	64575470	+	Frame_Shift_Ins	INS	-	-	ACATAGGA													attgggcccaaacactacccINSaggcatgatcctcagacagg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:64575469_64575470insACATAGGA	ENST00000377316.2	-	2	922_923	c.547_548insTCCTATGT	c.(547-549)tggfs	p.W183fs	MEN1_ENST00000377326.3_Frame_Shift_Ins_p.W183fs|MEN1_ENST00000337652.1_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000312049.6_Frame_Shift_Ins_p.W183fs|MEN1_ENST00000394376.1_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000377321.1_Splice_Site_p.W183fs|MEN1_ENST00000394374.2_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000443283.1_Frame_Shift_Ins_p.W188fs|MEN1_ENST00000315422.4_Frame_Shift_Ins_p.W183fs|MEN1_ENST00000377313.1_Frame_Shift_Ins_p.W188fs			O00255	MEN1_HUMAN	multiple endocrine neoplasia I	188					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.W183*(1)|p.W183R(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AAACACTACCCAGGCATGATCC	0.639			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				False	0	True	11:64575469	0	ACATAGGA	64575470	-	ACATAGGA	64575469	7	5	61	1	0	1	1	0	0	0	0	0	9539	595	21	0	1316	0	MEN1	11	64575469	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2011466	64575469	70431047	202	5003											
EHBP1L1	254102	broad.mit.edu	37	chr11	65350390	65350391	+	In_Frame_Ins	INS	-	-	TATCTTCTATCTTCA													tagcagagtctgacatattgINSgtagcccaggagatagaggt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:65350390_65350391insTATCTTCTATCTTCA	ENST00000309295.4	+	9	2512_2513	c.2247_2248insTATCTTCTATCTTCA	c.(2248-2250)gta>TATCTTCTATCTTCAgta	p.749_750insYLLSS		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	749	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTGACATATTGGTAGCCCAGGA	0.505													False	0	False	11:65350390	0	TATCTTCTATCTTCA	65350391	-	TATCTTCTATCTTCA	65350390	7	5	61	1	0	1	1	0	0	0	0	0	5006	1339	47	0	2281	0	EHBP1L1	11	65350390	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	774921	65350390	69656126	203	5004											
B3GNT6	192134	broad.mit.edu	37	chr11	76750683	76750684	+	In_Frame_Ins	INS	-	-	AAAAAGGAA													cttagcactgcagcagtggtINStcctccaggcgccaaggtcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:76750683_76750684insAAAAAGGAA	ENST00000533140.1	+	2	226_227	c.88_89insAAAAAGGAA	c.(88-90)ttc>tAAAAAGGAAtc	p.30_30F>*KGI	B3GNT6_ENST00000354301.5_In_Frame_Ins_p.30_30F>*KGI|B3GNT6_ENST00000421061.1_Intron			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	30					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GCAGCAGTGGTTCCTCCAGGCG	0.678											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:76750683	0	AAAAAGGAA	76750684	-	AAAAAGGAA	76750683	7	5	61	1	0	1	1	0	0	0	0	0	1265	1725	60	0	90	0	B3GNT6	11	76750683	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	11400293	76750683	58255833	204	5005											
NAALAD2	10003	broad.mit.edu	37	chr11	89891358	89891358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaggagtgggaatcccccGaatacctgtacatcccattg	10	11	0	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:89891358G>A	ENST00000534061.1	+	7	1072	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	NAALAD2_ENST00000321955.4_Missense_Mutation_p.R281Q|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	281	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGAATCCCCCGAATACCTGTA	0.313													False	0	True	11:89891358	0	A	89891358	G	A	89891358	3	1	61	1	0	0	0	0	1	0	0	0	10195	1058	37	1	868	1	NAALAD2	11	89891358	Missense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	13140675	89891358	45115158	205	5006											
FAT3	120114	broad.mit.edu	37	chr11	92532233	92532234	+	Frame_Shift_Ins	INS	-	-	ATGTAGTG													atgagcccttaaaatacagcINSatcttaaacccaggaaataa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:92532233_92532234insATGTAGTG	ENST00000525166.1	+	9	5626_5627	c.5604_5605insATGTAGTG	c.(5605-5607)atcfs	p.I1869fs	FAT3_ENST00000409404.2_Frame_Shift_Ins_p.I2019fs|FAT3_ENST00000298047.6_Frame_Shift_Ins_p.I2019fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2019	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAAAATACAGCATCTTAAACCC	0.406										TCGA Ovarian(4;0.039)			False	0	False	11:92532233	0	ATGTAGTG	92532234	-	ATGTAGTG	92532233	7	5	61	1	0	1	1	0	0	0	0	0	5731	709	25	0	6088	0	FAT3	11	92532233	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2640875	92532233	42474283	206	5007											
ATM	472	broad.mit.edu	37	chr11	108173724	108173725	+	In_Frame_Ins	INS	-	-	TATAAC													cagtggaggcacaaaatgtgINSaaattcttcaattattaaag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr11:108173724_108173725insTATAAC	ENST00000452508.2	+	37	5653_5654	c.5464_5465insTATAAC	c.(5464-5466)gaa>gTATAACaa	p.1822_1822E>V*Q	ATM_ENST00000278616.4_In_Frame_Ins_p.1822_1822E>V*Q			Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1822					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E1822*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CACAAAATGTGAAATTCTTCAA	0.337			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			False	0	True	11:108173724	0	TATAAC	108173725	-	TATAAC	108173724	7	5	61	1	0	1	1	0	0	0	0	0	1113	1291	45	0	5602	0	ATM	11	108173724	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	15641491	108173724	26832792	207	5008											
KCNA6	3742	broad.mit.edu	37	chr12	4920089	4920090	+	In_Frame_Ins	INS	-	-	TGGGGT													agccggccttcttccggaacINSatcatgaacatcattgactt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:4920089_4920090insTGGGGT	ENST00000280684.3	+	1	1748_1749	c.882_883insTGGGGT	c.(883-885)atc>TGGGGTatc	p.294_295insWG	KCNA6_ENST00000433855.1_In_Frame_Ins_p.294_295insWG			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	294						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TCTTCCGGAACATCATGAACAT	0.569										HNSCC(72;0.22)			False	0	False	12:4920089	0	TGGGGT	4920090	-	TGGGGT	4920089	7	5	61	1	0	1	1	0	0	0	0	0	8057	477	17	0	884	0	KCNA6	12	4920089	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		4920089	128931806	208	5009											
SLC2A3	6515	broad.mit.edu	37	chr12	8075534	8075535	+	Frame_Shift_Ins	INS	-	-	CCTAT													gttcggccacaataaaccagINSggaatggggcctggtccaat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:8075534_8075535insCCTAT	ENST00000075120.7	-	9	1394_1395	c.1154_1155insATAGG	c.(1153-1155)cccfs	p.-385fs		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3						carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CAATAAACCAGGGAATGGGGCC	0.535													False	0	True	12:8075534	0	CCTAT	8075535	-	CCTAT	8075534	7	5	61	1	0	1	1	0	0	0	0	0	14625	987	35	0	343	0	SLC2A3	12	8075534	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3155445	8075534	125776361	209	5010											
C3AR1	719	broad.mit.edu	37	chr12	8212240	8212241	+	Frame_Shift_Ins	INS	-	-	TATTTAA													aaagtctggataatctaatgINSagctggagagaccaaatttg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:8212240_8212241insTATTTAA	ENST00000307637.4	-	2	744_745	c.541_542insTTAAATA	c.(541-543)tcafs	p.S181fs		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	181					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ATAATCTAATGAGCTGGAGAGA	0.426													False	0	False	12:8212240	0	TATTTAA	8212241	-	TATTTAA	8212240	7	5	61	1	0	1	1	0	0	0	0	0	2221	1294	45	0	910	0	C3AR1	12	8212240	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	136706	8212240	125639655	210	5011											
C12orf60	144608	broad.mit.edu	37	chr12	14976418	14976419	+	Frame_Shift_Del	DEL	TA	TA	-													ccaggttcttccaaaaccacTatgatagacaccttgaaaaa					rs10556010		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:14976418_14976419delTA	ENST00000330828.2	+	2	753_754	c.549_550delTA	c.(547-552)actatgfs	p.M184fs	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	184										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CCAAAACCACTATGATAGACAC	0.401													False	1	False	12:14976418	0	-	14976419	TA	-	14976418	7	5	61	1	0	1	0	1	0	0	0	0	1712	1509	53	0	551	0	C12orf60	12	14976418	Frame_Shift_Del	DEL	TA	TCGA-HZ-7925-01A-11D-2154-08	6764178	14976418	118875477	211	5012											
PYROXD1	79912	broad.mit.edu	37	chr12	21609031	21609032	+	Splice_Site	INS	-	-	GAAATTAAATAATATAAAA													cttaaaggaacaaaagaggtINSatcttttcatatactaattg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:21609031_21609032insGAAATTAAATAATATAAAA	ENST00000538582.1	+	7	1290		c.e7+2		PYROXD1_ENST00000240651.9_Splice_Site|PYROXD1_ENST00000545178.1_Splice_Site			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1								oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						ACAAAAGAGGTATCTTTTCATA	0.322													False	0	False	12:21609031	0	GAAATTAAATAATATAAAA	21609032	-	GAAATTAAATAATATAAAA	21609031	8	5	61	1	0	1	1	0	0	0	1	0	12945	1652	57	0	778	0	PYROXD1	12	21609031	Splice_Site	INS	-	TCGA-HZ-7925-01A-11D-2154-08	6632613	21609031	112242864	212	5013											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	61	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	3789253	25398284	108453611	213	5014											
CCDC91	55297	broad.mit.edu	37	chr12	28459820	28459821	+	Frame_Shift_Ins	INS	-	-	ACACAAGAGAGGAAAG													atacagcttcagcaaaaaatINSttcaagtctggagattaaac							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:28459820_28459821insACACAAGAGAGGAAAG	ENST00000545336.1	+	8	832_833	c.413_414insACACAAGAGAGGAAAG	c.(412-417)atttcafs	p.S139fs	CCDC91_ENST00000381259.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000306172.5_Frame_Shift_Ins_p.S109fs|CCDC91_ENST00000539107.1_Frame_Shift_Ins_p.S139fs			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	139					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					CAGCAAAAAATTTCAAGTCTGG	0.327													False	0	True	12:28459820	0	ACACAAGAGAGGAAAG	28459821	-	ACACAAGAGAGGAAAG	28459820	7	5	61	1	0	1	1	0	0	0	0	0	2891	1493	52	0	427	0	CCDC91	12	28459820	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3061536	28459820	105392075	214	5015	74	2									
CCDC91	55297	broad.mit.edu	37	chr12	28459822	28459823	+	Frame_Shift_Ins	INS	-	-	TA													acagcttcagcaaaaaatttINScaagtctggagattaaactc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:28459822_28459823insTA	ENST00000545336.1	+	8	834_835	c.415_416insTA	c.(415-417)tcafs	p.S139fs	CCDC91_ENST00000381259.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Frame_Shift_Ins_p.S139fs|CCDC91_ENST00000306172.5_Frame_Shift_Ins_p.S109fs|CCDC91_ENST00000539107.1_Frame_Shift_Ins_p.S139fs			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	139					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GCAAAAAATTTCAAGTCTGGAG	0.332													False	0	True	12:28459822	0	TA	28459823	-	TA	28459822	7	5	61	1	0	1	1	0	0	0	0	0	2891	1783	62	0	429	0	CCDC91	12	28459822	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	28459822	105392073	215	5016	74	2									
SP7	121340	broad.mit.edu	37	chr12	53723136	53723137	+	Frame_Shift_Ins	INS	-	-	TGCTAAT													ttgagtcccgcagagggctaINSgagccaccaaatttgctgca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:53723136_53723137insTGCTAAT	ENST00000537210.2	-	2	264_265	c.35_36insATTAGCA	c.(34-36)tctfs	p.-12fs	SP7_ENST00000536324.2_Frame_Shift_Ins_p.-30fs|SP7_ENST00000303846.3_Frame_Shift_Ins_p.-30fs			Q8TDD2	SP7_HUMAN	Sp7 transcription factor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GCAGAGGGCTAGAGCCACCAAA	0.569													False	0	False	12:53723136	0	TGCTAAT	53723137	-	TGCTAAT	53723136	7	5	61	1	0	1	1	0	0	0	0	0	15049	407	15	0	1209	0	SP7	12	53723136	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	25263314	53723136	80128759	216	5017											
ATP2B1	490	broad.mit.edu	37	chr12	89984864	89984865	+	Frame_Shift_Ins	INS	-	-	AAAGAAACAAATTGAAACTGGG													tccactgtcaacagcattgtINStatttttgttgggagagggt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:89984864_89984865insAAAGAAACAAATTGAAACTGGG	ENST00000428670.3	-	21	4015_4016	c.3559_3560insCCCAGTTTCAATTTGTTTCTTT	c.(3559-3561)aacfs	p.N1187fs	ATP2B1_ENST00000393164.2_Frame_Shift_Ins_p.N930fs|ATP2B1_ENST00000261173.2_Frame_Shift_Ins_p.N1187fs|ATP2B1_ENST00000348959.3_Frame_Shift_Ins_p.N1151fs|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000359142.3_3'UTR			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1225					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AACAGCATTGTTATTTTTGTTG	0.441													False	0	False	12:89984864	0	AAAGAAACAAATTGAAACTGGG	89984865	-	AAAGAAACAAATTGAAACTGGG	89984864	7	5	61	1	0	1	1	0	0	0	0	0	1143	1725	60	0	106	0	ATP2B1	12	89984864	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	36261728	89984864	43867031	217	5018											
APPL2	55198	broad.mit.edu	37	chr12	105610895	105610896	+	Frame_Shift_Ins	INS	-	-	ATATCTGAGAAGGTATC													gtgttgaaattacttcttcaINStcacctttgccaagagcaaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:105610895_105610896insATATCTGAGAAGGTATC	ENST00000258530.3	-	4	461_462	c.236_237insGATACCTTCTCAGATAT	c.(235-237)gatfs	p.D79fs	APPL2_ENST00000539978.2_Frame_Shift_Ins_p.D36fs|APPL2_ENST00000551662.1_Frame_Shift_Ins_p.D79fs	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	79	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTACTTCTTCATCACCTTTGCC	0.376													False	0	False	12:105610895	0	ATATCTGAGAAGGTATC	105610896	-	ATATCTGAGAAGGTATC	105610895	7	5	61	1	0	1	1	0	0	0	0	0	820	214	8	0	1829	0	APPL2	12	105610895	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	15626031	105610895	28241000	218	5019											
CCDC63	160762	broad.mit.edu	37	chr12	111322040	111322041	+	Frame_Shift_Ins	INS	-	-	AGCTCCT													ggagatgatgcacaagaggaINScccaacgaatccaggtcagg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:111322040_111322041insAGCTCCT	ENST00000545036.1	+	7	1197_1198	c.940_941insAGCTCCT	c.(940-942)accfs	p.T314fs	CCDC63_ENST00000308208.5_Frame_Shift_Ins_p.T354fs|CCDC63_ENST00000552694.1_Frame_Shift_Ins_p.T275fs			Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	354										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCACAAGAGGACCCAACGAATC	0.554													False	0	True	12:111322040	0	AGCTCCT	111322041	-	AGCTCCT	111322040	7	5	61	1	0	1	1	0	0	0	0	0	2855	275	10	0	1086	0	CCDC63	12	111322040	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	5711145	111322040	22529855	219	5020											
ATXN2	6311	broad.mit.edu	37	chr12	111908548	111908549	+	Splice_Site	DEL	TG	TG	-													tgttggggcatatttggtacTgcagaaaaaaaagcagactg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:111908548_111908549delTG	ENST00000542287.2	-	19	2366		c.e19-2		ATXN2_ENST00000389153.4_Splice_Site|ATXN2_ENST00000377617.3_Splice_Site|ATXN2_ENST00000535949.1_Splice_Site|ATXN2_ENST00000550104.1_Splice_Site			Q99700	ATX2_HUMAN	ataxin 2						cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TATTTGGTACTGCAGAAAAAAA	0.51													False	1	False	12:111908548	0	-	111908549	TG	-	111908548	8	5	61	1	0	1	0	1	0	0	1	0	1215	1594	55	0	972	0	ATXN2	12	111908548	Splice_Site	DEL	TG	TCGA-HZ-7925-01A-11D-2154-08	586508	111908548	21943347	220	5021											
RPL6	6128	broad.mit.edu	37	chr12	112846370	112846371	+	Frame_Shift_Ins	INS	-	-	GAAAAGAAAAAGAAGGAGA													ggctttttagctttgaggttINSaccctttttcaccttgccac							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr12:112846370_112846371insGAAAAGAAAAAGAAGGAGA	ENST00000424576.2	-	2	275_276	c.90_91insTCTCCTTCTTTTTCTTTTC	c.(88-93)ggtaacfs	p.N31fs	RPL6_ENST00000202773.9_Frame_Shift_Ins_p.N31fs	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	31					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						GCTTTGAGGTTACCCTTTTTCA	0.47													False	0	True	12:112846370	0	GAAAAGAAAAAGAAGGAGA	112846371	-	GAAAAGAAAAAGAAGGAGA	112846370	7	5	61	1	0	1	1	0	0	0	0	0	13677	1754	61	0	799	0	RPL6	12	112846370	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	937822	112846370	21005525	221	5022											
DZIP1	22873	broad.mit.edu	37	chr13	96242648	96242649	+	In_Frame_Ins	INS	-	-	AGATAT													tatgtctttctgattccacaINSctttttagtactctatgcaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr13:96242648_96242649insAGATAT	ENST00000361396.2	-	16	2508_2509	c.1670_1671insATATCT	c.(1669-1671)agt>agATATCTt	p.557_557S>RYL	DZIP1_ENST00000361156.3_In_Frame_Ins_p.557_557S>RYL|DZIP1_ENST00000376829.2_In_Frame_Ins_p.576_576S>RYL|DZIP1_ENST00000347108.3_In_Frame_Ins_p.576_576S>RYL	NM_014934.4	NP_055749.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	576					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CTGATTCCACACTTTTTAGTAC	0.361													False	0	True	13:96242648	0	AGATAT	96242649	-	AGATAT	96242648	7	5	61	1	0	1	1	0	0	0	0	0	4893	156	6	0	903	0	DZIP1	13	96242648	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		96242648	18927230	222	5023	75	2									
DZIP1	22873	broad.mit.edu	37	chr13	96242649	96242650	+	Frame_Shift_Ins	INS	-	-	ATTAAACAAA													atgtctttctgattccacacINStttttagtactctatgcaac							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr13:96242649_96242650insATTAAACAAA	ENST00000361396.2	-	16	2507_2508	c.1669_1670insTTTGTTTAAT	c.(1669-1671)agtfs	p.S557fs	DZIP1_ENST00000361156.3_Frame_Shift_Ins_p.S557fs|DZIP1_ENST00000376829.2_Frame_Shift_Ins_p.S576fs|DZIP1_ENST00000347108.3_Frame_Shift_Ins_p.S576fs	NM_014934.4	NP_055749.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	576					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TGATTCCACACTTTTTAGTACT	0.361													False	0	True	13:96242649	0	ATTAAACAAA	96242650	-	ATTAAACAAA	96242649	7	5	61	1	0	1	1	0	0	0	0	0	4893	565	20	0	904	0	DZIP1	13	96242649	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	96242649	18927229	223	5024	75	2									
HAUS4	54930	broad.mit.edu	37	chr14	23417134	23417135	+	In_Frame_Ins	INS	-	-	ACT													tctgctccttctgctggctcINSttggcatcctggcactgctg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:23417134_23417135insACT	ENST00000206474.7	-	7	902_903	c.650_651insAGT	c.(649-651)aag>aaAGTg	p.217_218insV	HAUS4_ENST00000555986.1_In_Frame_Ins_p.172_173insV|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000342454.8_In_Frame_Ins_p.172_173insV|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000490506.1_In_Frame_Ins_p.93_94insV|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000541587.1_In_Frame_Ins_p.217_218insV|RP11-298I3.5_ENST00000555074.1_In_Frame_Ins_p.46_47QE>QSE|HAUS4_ENST00000555367.1_In_Frame_Ins_p.172_173insV|HAUS4_ENST00000554446.1_Intron			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	217					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCTGCTGGCTCTTGGCATCCTG	0.559													False	0	False	14:23417134	0	ACT	23417135	-	ACT	23417134	7	5	61	1	0	1	1	0	0	0	0	0	7015	912	32	0	456	0	HAUS4	14	23417134	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		23417134	83932406	224	5025											
ACIN1	22985	broad.mit.edu	37	chr14	23549369	23549370	+	Frame_Shift_Ins	INS	-	-	GAATGTC													attaggaggagataactgaaINStgaggacagcgggggctggg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:23549369_23549370insGAATGTC	ENST00000262710.1	-	6	1675_1676	c.1348_1349insGACATTC	c.(1348-1350)attfs	p.I450fs	ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.I450fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.I392fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.I410fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	450					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGATAACTGAATGAGGACAGCG	0.495													False	0	False	14:23549369	0	GAATGTC	23549370	-	GAATGTC	23549369	7	5	61	1	0	1	1	0	0	0	0	0	142	101	4	0	2879	0	ACIN1	14	23549369	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	132235	23549369	83800171	225	5026											
AP1G2	8906	broad.mit.edu	37	chr14	24031614	24031615	+	Frame_Shift_Ins	INS	-	-	ACCCCCTAGC													cagcaatgccagcacttcctINScttcgtccaccttcagacat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:24031614_24031615insACCCCCTAGC	ENST00000308724.5	-	15	2265_2266	c.1510_1511insGCTAGGGGGT	c.(1510-1512)gagfs	p.E504fs	AP1G2_ENST00000397120.3_Frame_Shift_Ins_p.E504fs|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	504					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CAGCACTTCCTCTTCGTCCACC	0.574											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	14:24031614	0	ACCCCCTAGC	24031615	-	ACCCCCTAGC	24031614	7	5	61	1	0	1	1	0	0	0	0	0	735	1551	54	0	874	0	AP1G2	14	24031614	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	482245	24031614	83317926	226	5027											
CTSG	1511	broad.mit.edu	37	chr14	25043947	25043947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggcggatggctctgcgCgcagtgatgtgttgctgggt	20	7	1	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:25043947C>T	ENST00000216336.2	-	3	309	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	91	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.A91A(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGGCTCTGCGCGCAGTGATGT	0.532													False	0	True	14:25043947	0	T	25043947	C	T	25043947	2	4	61	1	0	0	0	0	0	0	0	1	4060	755	27	1		1	CTSG	14	25043947	Silent	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	1012333	25043947	82305593	227	5028											
HEATR5A	25938	broad.mit.edu	37	chr14	31765237	31765238	+	In_Frame_Ins	INS	-	-	ACAATTTTTTTATTTTTA													gtgatagcagtaagtagactINSgacttcatcaagttcttggt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:31765237_31765238insACAATTTTTTTATTTTTA	ENST00000543095.2	-	34	5680_5681	c.5496_5497insTAAAAATAAAAAAATTGT	c.(5494-5499)gtcagt>gtcTAAAAATAAAAAAATTGTagt	p.1832_1833VS>V*K*KNCS	HEATR5A_ENST00000439348.1_In_Frame_Ins_p.1751_1752VS>V*K*KNCS|HEATR5A_ENST00000389961.3_In_Frame_Ins_p.1826_1827VS>V*K*KNCS|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_In_Frame_Ins_p.1539_1540VS>V*K*KNCS	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1826							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GTAAGTAGACTGACTTCATCAA	0.366													False	0	True	14:31765237	0	ACAATTTTTTTATTTTTA	31765238	-	ACAATTTTTTTATTTTTA	31765237	7	5	61	1	0	1	1	0	0	0	0	0	7078	1580	55	0	655	0	HEATR5A	14	31765237	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	6721290	31765237	75584303	228	5029											
ATG2B	55102	broad.mit.edu	37	chr14	96808039	96808044	+	Splice_Site	DEL	CTACAA	CTACAA	-													gagagctttggctcagtttcCtacaataaagtgacaaaaat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CTACAA	CTACAA	-	-	CTACAA	CTACAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:96808039_96808044delCTACAA	ENST00000359933.4	-	6	1638		c.e6-1			NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B											breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCTCAGTTTCCTACAATAAAGTGACa	0.301													False	1	False	14:96808039	0	-	96808044	CTACAA	-	96808039	8	5	61	1	0	1	0	1	0	0	1	0	1098	695	24	0	5640	0	ATG2B	14	96808039	Splice_Site	DEL	CTACAA	TCGA-HZ-7925-01A-11D-2154-08	65042802	96808039	10541501	229	5030											
EIF5	1983	broad.mit.edu	37	chr14	103804729	103804730	+	In_Frame_Ins	INS	-	-	CTACCT													cagaaagggcaaagacaaggINSaaaatggctccgtatccagc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr14:103804729_103804730insCTACCT	ENST00000216554.3	+	7	1181_1182	c.505_506insCTACCT	c.(505-507)gaa>gCTACCTaa	p.169_169E>AT*	EIF5_ENST00000392715.2_In_Frame_Ins_p.169_169E>AT*|EIF5_ENST00000558506.1_In_Frame_Ins_p.169_169E>AT*	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	169					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			caaagacaaggaaaATGGCTCC	0.421													False	0	True	14:103804729	0	CTACCT	103804730	-	CTACCT	103804729	7	5	61	1	0	1	1	0	0	0	0	0	5072	1175	41	0	523	0	EIF5	14	103804729	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	6996690	103804729	3544811	230	5031											
ZSCAN29	146050	broad.mit.edu	37	chr15	43658416	43658418	+	In_Frame_Del	DEL	CCT	CCT	-													agccacagcctcttctgctcCctcctcatgctgccagcccc					rs10556664		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:43658416_43658418delCCT	ENST00000396976.2	-	3	1246_1248	c.1112_1114delAGG	c.(1111-1116)gaggga>gga	p.E371del	ZSCAN29_ENST00000562072.1_In_Frame_Del_p.E370del|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	371					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCTTCTGCTCCCTCCTCATGCTG	0.601													False	2	True	15:43658416	0	-	43658418	CCT	-	43658416	7	5	61	1	0	1	0	1	0	0	0	0	18318	632	22	0	1456	0	ZSCAN29	15	43658416	In_Frame_Del	DEL	CCT	TCGA-HZ-7925-01A-11D-2154-08		43658416	58872976	231	5032											
MAP1A	4130	broad.mit.edu	37	chr15	43822015	43822016	+	In_Frame_Ins	INS	-	-	ATT													caatggcgagccaagccgggINSctgtgctggatgccctgctg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:43822015_43822016insATT	ENST00000382031.1	+	6	8948_8949	c.8917_8918insATT	c.(8917-8919)gct>gATTct	p.2973_2973A>DS	MAP1A_ENST00000399453.1_In_Frame_Ins_p.2735_2735A>DS|MAP1A_ENST00000300231.5_In_Frame_Ins_p.2735_2735A>DS			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2735						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCAAGCCGGGCTGTGCTGGAT	0.574													False	0	True	15:43822015	0	ATT	43822016	-	ATT	43822015	7	5	61	1	0	1	1	0	0	0	0	0	9294	1203	42	0	8209	0	MAP1A	15	43822015	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	163599	43822015	58709377	232	5033	76	2									
MAP1A	4130	broad.mit.edu	37	chr15	43822016	43822017	+	Frame_Shift_Ins	INS	-	-	AT													aatggcgagccaagccgggcINStgtgctggatgccctgctgg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:43822016_43822017insAT	ENST00000382031.1	+	6	8949_8950	c.8918_8919insAT	c.(8917-8922)gctgtgfs	p.V2974fs	MAP1A_ENST00000399453.1_Frame_Shift_Ins_p.V2736fs|MAP1A_ENST00000300231.5_Frame_Shift_Ins_p.V2736fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2736						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAAGCCGGGCTGTGCTGGATG	0.579													False	0	False	15:43822016	0	AT	43822017	-	AT	43822016	7	5	61	1	0	1	1	0	0	0	0	0	9294	797	28	0	8210	0	MAP1A	15	43822016	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	43822016	58709376	233	5034	76	2									
ARPP19	10776	broad.mit.edu	37	chr15	52849410	52849411	+	Frame_Shift_Ins	INS	-	-	AGGTATGTACATATGTGTATATGTA													tctggactagtcactttatcINSttccatttcctaaaataatt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:52849410_52849411insAGGTATGTACATATGTGTATATGTA	ENST00000566423.1	-	3	187_188	c.54_55insTACATATACACATATGTACATACCT	c.(52-57)gaagatfs	p.D19fs	ARPP19_ENST00000561650.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000569281.2_Frame_Shift_Ins_p.D19fs|ARPP19_ENST00000249822.4_Frame_Shift_Ins_p.D19fs|ARPP19_ENST00000563277.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000561971.1_Frame_Shift_Ins_p.D38fs|ARPP19_ENST00000568196.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000564163.1_Frame_Shift_Ins_p.D38fs|ARPP19_ENST00000569723.1_Intron|ARPP19_ENST00000563566.1_Frame_Shift_Ins_p.D3fs|ARPP19_ENST00000567669.1_Frame_Shift_Ins_p.D19fs			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	19					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GTCACTTTATCTTCCATTTCCT	0.312													False	0	False	15:52849410	0	AGGTATGTACATATGTGTATATGTA	52849411	-	AGGTATGTACATATGTGTATATGTA	52849410	7	5	61	1	0	1	1	0	0	0	0	0	981	913	32	0	291	0	ARPP19	15	52849410	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	9027394	52849410	49681982	234	5035											
RFX7	64864	broad.mit.edu	37	chr15	56386171	56386172	+	Frame_Shift_Ins	INS	-	-	GTAATAGCAC													atcaagtttactcaacaaaaINScattggttatttttttactg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:56386171_56386172insGTAATAGCAC	ENST00000559447.2	-	9	3734_3735	c.3463_3464insGTGCTATTAC	c.(3463-3465)gttfs	p.V1155fs	RFX7_ENST00000422057.1_Frame_Shift_Ins_p.V1155fs|RFX7_ENST00000317318.6_Frame_Shift_Ins_p.V1252fs|RFX7_ENST00000423270.1_Frame_Shift_Ins_p.V1252fs			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1155					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACTCAACAAAACATTGGTTATT	0.421													False	0	True	15:56386171	0	GTAATAGCAC	56386172	-	GTAATAGCAC	56386171	7	5	61	1	0	1	1	0	0	0	0	0	13347	43	2	0	631	0	RFX7	15	56386171	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3536761	56386171	46145221	235	5036											
TLN2	83660	broad.mit.edu	37	chr15	62993388	62993388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctatcacggccggaacGgcttcagttgttaacctcac	10	12	3	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:62993388G>A	ENST00000561311.1	+	16	1901	c.1671G>A	c.(1669-1671)acG>acA	p.T557T	TLN2_ENST00000306829.6_Silent_p.T557T			Q9Y4G6	TLN2_HUMAN	talin 2	557					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGGCCGGAACGGCTTCAGTTG	0.418													False	0	False	15:62993388	0	A	62993388	G	A	62993388	2	1	61	1	0	0	0	0	0	0	0	1	16030	1103	39	1		1	TLN2	15	62993388	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	6607217	62993388	39538004	236	5037											
GLCE	26035	broad.mit.edu	37	chr15	69548620	69548621	+	Frame_Shift_Ins	INS	-	-	GAAG													tgaattctctcatagctattINSccaaagtctatgcacagaga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:69548620_69548621insGAAG	ENST00000559420.2	+	1	488_489	c.283_284insGAAG	c.(283-285)tccfs	p.-94fs	GLCE_ENST00000261858.2_Frame_Shift_Ins_p.-158fs			O94923	GLCE_HUMAN	glucuronic acid epimerase						heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TCATAGCTATTCCAAAGTCTAT	0.416													False	0	False	15:69548620	0	GAAG	69548621	-	GAAG	69548620	7	5	61	1	0	1	1	0	0	0	0	0	6477	1783	62	0	477	0	GLCE	15	69548620	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	6555232	69548620	32982772	237	5038											
RASGRF1	5923	broad.mit.edu	37	chr15	79296394	79296394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgccggcggctcggtgaCgatgtcttggtgatggacag	16	10	1	2	rs140968213		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr15:79296394C>T	ENST00000419573.3	-	16	2521	c.2247G>A	c.(2245-2247)tcG>tcA	p.S749S	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S733S|RASGRF1_ENST00000394745.3_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	749	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCTCGGTGACGATGTCTTGG	0.637													False	0	False	15:79296394	0	T	79296394	C	T	79296394	2	4	61	1	0	0	0	0	0	0	0	1	13151	523	19	1		1	RASGRF1	15	79296394	Silent	SNP	C	TCGA-HZ-7925-01A-11D-2154-08	9747774	79296394	23234998	238	5039											
GLYR1	84656	broad.mit.edu	37	chr16	4861283	4861284	+	Frame_Shift_Ins	INS	-	-	TTTTT													gaaatcaggcttaaagtttcINScttgcaggatatctgaggag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:4861283_4861284insTTTTT	ENST00000321919.9	-	15	1550_1551	c.1474_1475insAAAAA	c.(1474-1476)ggafs	p.G492fs	GLYR1_ENST00000591451.1_Frame_Shift_Ins_p.G486fs|GLYR1_ENST00000381983.3_Frame_Shift_Ins_p.G475fs|GLYR1_ENST00000436648.5_Frame_Shift_Ins_p.G411fs	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	492					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.G492*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CTTAAAGTTTCCTTGCAGGATA	0.46													False	0	False	16:4861283	0	TTTTT	4861284	-	TTTTT	4861283	7	5	61	1	0	1	1	0	0	0	0	0	6528	855	30	0	194	0	GLYR1	16	4861283	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		4861283	85493470	239	5040	77	2									
GLYR1	84656	broad.mit.edu	37	chr16	4861284	4861285	+	Frame_Shift_Ins	INS	-	-	TTTCTTTTTT													aaatcaggcttaaagtttccINSttgcaggatatctgaggaga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:4861284_4861285insTTTCTTTTTT	ENST00000321919.9	-	15	1549_1550	c.1473_1474insAAAAAAGAAA	c.(1471-1476)caaggafs	p.G492fs	GLYR1_ENST00000591451.1_Frame_Shift_Ins_p.G486fs|GLYR1_ENST00000381983.3_Frame_Shift_Ins_p.G475fs|GLYR1_ENST00000436648.5_Frame_Shift_Ins_p.G411fs	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	492					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.G492*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TTAAAGTTTCCTTGCAGGATAT	0.46													False	0	False	16:4861284	0	TTTCTTTTTT	4861285	-	TTTCTTTTTT	4861284	7	5	61	1	0	1	1	0	0	0	0	0	6528	690	24	0	195	0	GLYR1	16	4861284	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	4861284	85493469	240	5041	77	2									
MKL2	57496	broad.mit.edu	37	chr16	14334575	14334576	+	Frame_Shift_Ins	INS	-	-	AAAAT													atttttacaagttagaaatgINSccttttcacaattattcatc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:14334575_14334576insAAAAT	ENST00000573051.1	+	9	1188_1189	c.1030_1031insAAAAT	c.(1030-1032)gccfs	p.A344fs	MKL2_ENST00000572567.1_3'UTR|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000341243.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000571589.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTTAGAAATGCCTTTTCACAA	0.371													False	0	False	16:14334575	0	AAAAT	14334576	-	AAAAT	14334575	7	5	61	1	0	1	1	0	0	0	0	0	9669	1334	46	0		0	MKL2	16	14334575	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	9473291	14334575	76020178	241	5042	78	2									
MKL2	57496	broad.mit.edu	37	chr16	14334576	14334577	+	In_Frame_Ins	INS	-	-	ATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAA													tttttacaagttagaaatgcINScttttcacaattattcatcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:14334576_14334577insATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAA	ENST00000573051.1	+	9	1189_1190	c.1031_1032insATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAA	c.(1030-1035)gccttt>gcATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAActtt	p.344_345AF>ALLSTNK*QHSTFGNF	MKL2_ENST00000572567.1_3'UTR|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000341243.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000571589.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTTAGAAATGCCTTTTCACAAT	0.371													False	0	True	16:14334576	0	ATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAA	14334577	-	ATTACTGAGCACAAATAAATGACAACATTCAACTTTTGGTAA	14334576	7	5	61	1	0	1	1	0	0	0	0	0	9669	754	26	0		0	MKL2	16	14334576	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	14334576	76020177	242	5043	78	2									
C16orf87	388272	broad.mit.edu	37	chr16	46836909	46836910	+	Frame_Shift_Ins	INS	-	-	TGTCGTTT													tttttctatttatttctgccINSaaggcgactgaaaacacgaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:46836909_46836910insTGTCGTTT	ENST00000394806.2	-	3	248_249	c.236_237insAAACGACA	c.(235-237)ttgfs	p.-79fs	C16orf87_ENST00000285697.4_Frame_Shift_Ins_p.-140fs			Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87											large_intestine(4)|urinary_tract(1)	5						TTATTTCTGCCAAGGCGACTGA	0.337													False	0	False	16:46836909	0	TGTCGTTT	46836910	-	TGTCGTTT	46836909	7	5	61	1	0	1	1	0	0	0	0	0	1850	593	21	0	48	0	C16orf87	16	46836909	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	32502333	46836909	43517844	243	5044											
BRD7	29117	broad.mit.edu	37	chr16	50367590	50367592	+	In_Frame_Del	DEL	AAG	AAG	-													ttgcttttaaacttatcttcAagcatatctttgtctttcct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:50367590_50367592delAAG	ENST00000394688.3	-	8	1063_1065	c.904_906delCTT	c.(904-906)cttdel	p.L302del	BRD7_ENST00000394689.2_In_Frame_Del_p.L302del			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	302					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ACTTATCTTCAAGCATATCTTTG	0.335													False	1	False	16:50367590	0	-	50367592	AAG	-	50367590	7	5	61	1	0	1	0	1	0	0	0	0	1512	117	5	0	1092	0	BRD7	16	50367590	In_Frame_Del	DEL	AAG	TCGA-HZ-7925-01A-11D-2154-08	3530681	50367590	39987163	244	5045											
SALL1	6299	broad.mit.edu	37	chr16	51172999	51173000	+	Frame_Shift_Ins	INS	-	-	CCCTGCTC													atgtgtcaacatgtgctgctINStcaaattaccctttgtggaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:51172999_51173000insCCCTGCTC	ENST00000251020.4	-	2	3166_3167	c.3133_3134insGAGCAGGG	c.(3133-3135)aagfs	p.K1045fs	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Frame_Shift_Ins_p.K948fs	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1045					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CATGTGCTGCTTCAAATTACCC	0.475													False	0	False	16:51172999	0	CCCTGCTC	51173000	-	CCCTGCTC	51172999	7	5	61	1	0	1	1	0	0	0	0	0	13889	1609	56	0	848	0	SALL1	16	51172999	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	805409	51172999	39181754	245	5046											
RLTPR	146206	broad.mit.edu	37	chr16	67686232	67686234	+	In_Frame_Del	DEL	AGA	AGA	-													ccccgaggagaaggaagaggAgaaggagaaggtaagtggtt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:67686232_67686234delAGA	ENST00000334583.6	+	27	3135_3137	c.2807_2809delAGA	c.(2806-2811)gagaag>gag	p.K937del	RLTPR_ENST00000545661.1_In_Frame_Del_p.K901del	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	937	Pro-rich.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		aaggaagaggagaaggagaaggT	0.557													False	1	True	16:67686232	0	-	67686234	AGA	-	67686232	7	5	61	1	0	1	0	1	0	0	0	0	13473	304	11	0	2913	0	RLTPR	16	67686232	In_Frame_Del	DEL	AGA	TCGA-HZ-7925-01A-11D-2154-08	16513233	67686232	22668521	246	5047											
CENPT	80152	broad.mit.edu	37	chr16	67863789	67863789	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctcttctaccctgctGggtccttgtgctcctgttgc	9	15	3	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr16:67863789G>C	ENST00000562787.1	-	12	1613	c.1065C>G	c.(1063-1065)ccC>ccG	p.P355P	CENPT_ENST00000440851.2_Silent_p.P355P|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000219172.3_Silent_p.P355P	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	355					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	p.P355P(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTACCCTGCTGGGTCCTTGTG	0.547													False	0	True	16:67863789	0	C	67863789	G	C	67863789	2	2	61	1	0	0	0	0	0	0	0	1	3265	1335	47	5		5	CENPT	16	67863789	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	177557	67863789	22490964	247	5048											
TP53	7157	broad.mit.edu	37	chr17	7578525	7578525	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggtcttggccagttgGcaaaacatcttgttgagggc	15	8	2	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:7578525G>T	ENST00000420246.2	-	5	537	c.405C>A	c.(403-405)tgC>tgA	p.C135*	TP53_ENST00000455263.2_Nonsense_Mutation_p.C135*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C135*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C135*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C135*|TP53_ENST00000269305.4_Nonsense_Mutation_p.C135*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGCCAGTTGGCAAAACATCT	0.567		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)			False	0	False	17:7578525	0	T	7578525	G	T	7578525	4	4	61	1	0	0	0	0	0	1	0	0	16464	1195	42	3	893	3	TP53	17	7578525	Nonsense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08		7578525	73616685	248	5049											
DNAH9	1770	broad.mit.edu	37	chr17	11593732	11593733	+	Frame_Shift_Ins	INS	-	-	GAACTTG													tattcactggatctgaagatINSattcgggcacagctacccca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:11593732_11593733insGAACTTG	ENST00000454412.2	+	20	4593_4594	c.4593_4594insGAACTTG	c.(4594-4596)attfs	p.I1532fs	DNAH9_ENST00000262442.3_Frame_Shift_Ins_p.I1532fs			Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1532	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATCTGAAGATATTCGGGCACA	0.49													False	0	False	17:11593732	0	GAACTTG	11593733	-	GAACTTG	11593732	7	5	61	1	0	1	1	0	0	0	0	0	4638	1403	49	0	4671	0	DNAH9	17	11593732	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	4015207	11593732	69601478	249	5050											
ZNF286A	57335	broad.mit.edu	37	chr17	15609784	15609785	+	Frame_Shift_Ins	INS	-	-	CA													ctgcacaaagggatgtgatgINSctggagaactataggaacct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:15609784_15609785insCA	ENST00000464847.2	+	3	763_764	c.210_211insCA	c.(211-213)ctgfs	p.L71fs	ZNF286A_ENST00000585194.1_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000593105.1_Frame_Shift_Ins_p.L61fs|ZNF286A_ENST00000395894.2_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000581529.1_Intron|ZNF286A_ENST00000395893.2_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000583566.1_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000580259.1_Intron|ZNF286A_ENST00000413242.2_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000421016.1_Frame_Shift_Ins_p.L71fs|ZNF286A_ENST00000472486.1_Frame_Shift_Ins_p.L61fs			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GGGATGTGATGCTGGAGAACTA	0.401													False	0	False	17:15609784	0	CA	15609785	-	CA	15609784	7	5	61	1	0	1	1	0	0	0	0	0	17906	1319	46	0	220	0	ZNF286A	17	15609784	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	4016052	15609784	65585426	250	5051	79	2									
ZNF286A	57335	broad.mit.edu	37	chr17	15609786	15609787	+	Frame_Shift_Ins	INS	-	-	TAAGAGG													gcacaaagggatgtgatgctINSggagaactataggaacctag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:15609786_15609787insTAAGAGG	ENST00000464847.2	+	3	765_766	c.212_213insTAAGAGG	c.(211-216)ctggagfs	p.E72fs	ZNF286A_ENST00000585194.1_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000593105.1_Frame_Shift_Ins_p.E62fs|ZNF286A_ENST00000395894.2_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000581529.1_Intron|ZNF286A_ENST00000395893.2_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000583566.1_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000580259.1_Intron|ZNF286A_ENST00000413242.2_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000421016.1_Frame_Shift_Ins_p.E72fs|ZNF286A_ENST00000472486.1_Frame_Shift_Ins_p.E62fs			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GATGTGATGCTGGAGAACTATA	0.401													False	0	False	17:15609786	0	TAAGAGG	15609787	-	TAAGAGG	15609786	7	5	61	1	0	1	1	0	0	0	0	0	17906	1580	55	0	222	0	ZNF286A	17	15609786	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	15609786	65585424	251	5052	79	2									
ATAD5	79915	broad.mit.edu	37	chr17	29161911	29161912	+	Frame_Shift_Ins	INS	-	-	TGTGGTCCCTTGTTTAGGATTTACTTTTTTAG													gtctcatatgaggaatttttINSaaaaagtcacaaggaaaata							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:29161911_29161912insTGTGGTCCCTTGTTTAGGATTTACTTTTTTAG	ENST00000321990.4	+	2	1190_1191	c.812_813insTGTGGTCCCTTGTTTAGGATTTACTTTTTTAG	c.(811-816)ttaaaafs	p.LK271fs	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	271					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAGGAATTTTTAAAAAGTCACA	0.351													False	0	True	17:29161911	0	TGTGGTCCCTTGTTTAGGATTTACTTTTTTAG	29161912	-	TGTGGTCCCTTGTTTAGGATTTACTTTTTTAG	29161911	7	5	61	1	0	1	1	0	0	0	0	0	1080	1764	61	0	818	0	ATAD5	17	29161911	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	13552125	29161911	52033299	252	5053											
EVI2B	2124	broad.mit.edu	37	chr17	29632121	29632122	+	Frame_Shift_Ins	INS	-	-	AGCTA													ttttgacagttgatgttggtINStgtgtggatggattatgaac							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:29632121_29632122insAGCTA	ENST00000330927.4	-	2	660_661	c.506_507insTAGCT	c.(505-507)caafs	p.Q169fs	EVI2B_ENST00000577894.1_Frame_Shift_Ins_p.Q169fs|EVI2B_ENST00000544462.1_Frame_Shift_Ins_p.Q184fs|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	169						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTGATGTTGGTTGTGTGGATGG	0.342													False	0	True	17:29632121	0	AGCTA	29632122	-	AGCTA	29632121	7	5	61	1	0	1	1	0	0	0	0	0	5320	1722	60	0	843	0	EVI2B	17	29632121	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	470210	29632121	51563089	253	5054											
SUZ12	23512	broad.mit.edu	37	chr17	30322748	30322749	+	Frame_Shift_Ins	INS	-	-	AAATAAATGTT													tagatagtgaagatgaaaagINSgatcctgaatggctaagaga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:30322748_30322749insAAATAAATGTT	ENST00000322652.5	+	14	1990_1991	c.1761_1762insAAATAAATGTT	c.(1762-1764)gatfs	p.D588fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.D565fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	588	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AAGATGAAAAGGATCCTGAATG	0.327			T	JAZF1	endometrial stromal tumours								False	0	False	17:30322748	0	AAATAAATGTT	30322749	-	AAATAAATGTT	30322748	7	5	61	1	0	1	1	0	0	0	0	0	15498	991	35	0	1815	0	SUZ12	17	30322748	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	690627	30322748	50872462	254	5055	80	2									
SUZ12	23512	broad.mit.edu	37	chr17	30322750	30322751	+	Frame_Shift_Ins	INS	-	-	TTTATGGCCTCTACATG													gatagtgaagatgaaaaggaINStcctgaatggctaagagaaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:30322750_30322751insTTTATGGCCTCTACATG	ENST00000322652.5	+	14	1992_1993	c.1763_1764insTTTATGGCCTCTACATG	c.(1762-1767)gatcctfs	p.P589fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.P566fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	589	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GATGAAAAGGATCCTGAATGGC	0.327			T	JAZF1	endometrial stromal tumours								False	0	False	17:30322750	0	TTTATGGCCTCTACATG	30322751	-	TTTATGGCCTCTACATG	30322750	7	5	61	1	0	1	1	0	0	0	0	0	15498	333	12	0	1817	0	SUZ12	17	30322750	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	30322750	50872460	255	5056	80	2									
TNS4	84951	broad.mit.edu	37	chr17	38643522	38643523	+	Frame_Shift_Ins	INS	-	-	GTTTC													gcatgttctttggccagtggINStggagagtggggtgttctgg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:38643522_38643523insGTTTC	ENST00000254051.6	-	4	1211_1212	c.1053_1054insGAAAC	c.(1051-1056)ccaccafs	p.P352fs		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	352					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TTGGCCAGTGGTGGAGAGTGGG	0.584													False	0	False	17:38643522	0	GTTTC	38643523	-	GTTTC	38643522	7	5	61	1	0	1	1	0	0	0	0	0	16427	1261	44	0	1133	0	TNS4	17	38643522	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	8320772	38643522	42551688	256	5057											
EZH1	2145	broad.mit.edu	37	chr17	40870623	40870624	+	In_Frame_Ins	INS	-	-	TGA													tggggtctgacatctctgttINSagttctcgatacctatttaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:40870623_40870624insTGA	ENST00000590078.1	-	8	779_780	c.569_570insTCA	c.(568-570)cta>ctTCAa	p.190_191insQ	EZH1_ENST00000415827.2_In_Frame_Ins_p.251_252insQ|EZH1_ENST00000435174.1_In_Frame_Ins_p.121_122insQ|EZH1_ENST00000592743.1_In_Frame_Ins_p.260_261insQ|EZH1_ENST00000585893.1_In_Frame_Ins_p.220_221insQ|EZH1_ENST00000428826.2_In_Frame_Ins_p.260_261insQ			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	260					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ACATCTCTGTTAGTTCTCGATA	0.505													False	0	False	17:40870623	0	TGA	40870624	-	TGA	40870623	7	5	61	1	0	1	1	0	0	0	0	0	5366	1741	61	0	1515	0	EZH1	17	40870623	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2227101	40870623	40324587	257	5058											
GPATCH8	23131	broad.mit.edu	37	chr17	42475080	42475081	+	Frame_Shift_Ins	INS	-	-	GA													gggcagcatgtgggacagggINStgaaaggtgaagggcccagg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:42475080_42475081insGA	ENST00000591680.1	-	8	4394_4395	c.4364_4365insTC	c.(4363-4365)cacfs	p.H1455fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.H1377fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1455						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTGGGACAGGGTGAAAGGTGAA	0.594													False	0	True	17:42475080	0	GA	42475081	-	GA	42475080	7	5	61	1	0	1	1	0	0	0	0	0	6640	1252	44	0	147	0	GPATCH8	17	42475080	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1604457	42475080	38720130	258	5059											
KPNB1	3837	broad.mit.edu	37	chr17	45758029	45758030	+	Frame_Shift_Ins	INS	-	-	G													ctgaggaaactgaagaaccaINSagcttggtaagatcttgcct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:45758029_45758030insG	ENST00000540627.1	+	20	2706_2707	c.2189_2190insG	c.(2188-2193)caagctfs	p.A731fs	KPNB1_ENST00000290158.4_Frame_Shift_Ins_p.A876fs|KPNB1_ENST00000537679.1_Frame_Shift_Ins_p.A660fs|KPNB1_ENST00000535458.2_Frame_Shift_Ins_p.A731fs			Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	876					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CTGAAGAACCAAGCTTGGTAAG	0.46													False	0	False	17:45758029	0	G	45758030	-	G	45758029	7	5	61	1	0	1	1	0	0	0	0	0	8485	130	5	0	2706	0	KPNB1	17	45758029	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3282949	45758029	35437181	259	5060											
MPO	4353	broad.mit.edu	37	chr17	56356676	56356676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagagccaccgggaagccGttgcgcttgaccccgggcgt	14	15	0	2			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:56356676G>A	ENST00000340482.3	-	4	932	c.756C>T	c.(754-756)aaC>aaT	p.N252N	MPO_ENST00000225275.3_Silent_p.N220N			P05164	PERM_HUMAN	myeloperoxidase	220					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCGGGAAGCCGTTGCGCTTGA	0.731													False	0	False	17:56356676	0	A	56356676	G	A	56356676	2	1	61	1	0	0	0	0	0	0	0	1	9799	1136	40	1		1	MPO	17	56356676	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	10598647	56356676	24838534	260	5061											
INTS2	57508	broad.mit.edu	37	chr17	59969014	59969015	+	Frame_Shift_Ins	INS	-	-	TTCTTTTATATCT													agtaattgaggatgaagtggINSagtagaggtttcacacagct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:59969014_59969015insTTCTTTTATATCT	ENST00000251334.6	-	14	2089_2090	c.1734_1735insAGATATAAAAGAA	c.(1732-1737)actccafs	p.P579fs	INTS2_ENST00000444766.3_Frame_Shift_Ins_p.P587fs			Q9H0H0	INT2_HUMAN	integrator complex subunit 2	587					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GGATGAAGTGGAGTAGAGGTTT	0.351													False	0	False	17:59969014	0	TTCTTTTATATCT	59969015	-	TTCTTTTATATCT	59969014	7	5	61	1	0	1	1	0	0	0	0	0	7828	1174	41	0	1903	0	INTS2	17	59969014	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3612338	59969014	21226196	261	5062											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856364	62856365	+	In_Frame_Ins	INS	-	-	GTATCTGCTCCT													agcggtatttttttctggaaINStgtacgatgggtttagatgt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:62856364_62856365insGTATCTGCTCCT	ENST00000584306.1	-	11	4429_4430	c.3899_3900insAGGAGCAGATAC	c.(3898-3900)cat>caAGGAGCAGATACt	p.1300_1300H>QGADT	LRRC37A3_ENST00000319651.5_In_Frame_Ins_p.1300_1300H>QGADT|LRRC37A3_ENST00000339474.5_In_Frame_Ins_p.418_418H>QGADT|LRRC37A3_ENST00000400877.3_In_Frame_Ins_p.338_338H>QGADT|LRRC37A3_ENST00000334962.5_In_Frame_Ins_p.277_277H>QGADT	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1300						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTTTCTGGAATGTACGATGGG	0.411													False	0	False	17:62856364	0	GTATCTGCTCCT	62856365	-	GTATCTGCTCCT	62856364	7	5	61	1	0	1	1	0	0	0	0	0	9055	98	4	0	1020	0	LRRC37A3	17	62856364	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2887350	62856364	18338846	262	5063											
HELZ	9931	broad.mit.edu	37	chr17	65103458	65103459	+	Frame_Shift_Ins	INS	-	-	AAAAATATCAGTATTTA													ggccccattaggtgattctgINSttgcaagttagcaaaagtcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:65103458_65103459insAAAAATATCAGTATTTA	ENST00000358691.5	-	31	5233_5234	c.5067_5068insTAAATACTGATATTTTT	c.(5065-5070)caacagfs	p.Q1690fs	HELZ_ENST00000580168.1_Frame_Shift_Ins_p.Q1691fs	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGTGATTCTGTTGCAAGTTAG	0.485													False	0	False	17:65103458	0	AAAAATATCAGTATTTA	65103459	-	AAAAATATCAGTATTTA	65103458	7	5	61	1	0	1	1	0	0	0	0	0	7096	1386	48	0	772	0	HELZ	17	65103458	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2247094	65103458	16091752	263	5064											
HELZ	9931	broad.mit.edu	37	chr17	65103750	65103751	+	In_Frame_Ins	INS	-	-	ACAGCG													gtggcatttcagctagttccINScgtgtttcactttgatcacg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:65103750_65103751insACAGCG	ENST00000358691.5	-	31	4941_4942	c.4775_4776insCGCTGT	c.(4774-4776)cgg>cgCGCTGTg	p.1592_1593insAV	HELZ_ENST00000580168.1_In_Frame_Ins_p.1593_1594insAV	NM_014877.3	NP_055692.2			helicase with zinc finger									p.R1592Q(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAGCTAGTTCCCGTGTTTCACT	0.421													False	0	True	17:65103750	0	ACAGCG	65103751	-	ACAGCG	65103750	7	5	61	1	0	1	1	0	0	0	0	0	7096	610	22	0	1064	0	HELZ	17	65103750	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	292	65103750	16091460	264	5065											
KPNA2	3838	broad.mit.edu	37	chr17	66033612	66033623	+	Splice_Site	DEL	GTAAAAAATGTA	GTAAAAAATGTA	-													aggaaaaccgcaacaaccagGtaaaaaatgtattttagttt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	GTAAAAAATGTA	GTAAAAAATGTA	-	-	GTAAAAAATGTA	GTAAAAAATGTA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr17:66033612_66033623delGTAAAAAATGTA	ENST00000537025.2	+	3	833		c.e3+1		KPNA2_ENST00000330459.3_Splice_Site			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)						DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAACAACCAGGTAAAAAATGTATTTTAGTTTA	0.368													False	1	True	17:66033612	0	-	66033623	GTAAAAAATGTA	-	66033612	8	5	61	1	0	1	0	1	0	0	1	0	8480	1275	44	0	220	0	KPNA2	17	66033612	Splice_Site	DEL	GTAAAAAATGTA	TCGA-HZ-7925-01A-11D-2154-08	929862	66033612	15161598	265	5066											
CHMP1B	57132	broad.mit.edu	37	chr18	11851926	11851927	+	Frame_Shift_Ins	INS	-	-	TCATTCTCAA													gaagacacgatgagcagcacINSgacgacgctcaccactcccc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:11851926_11851927insTCATTCTCAA	ENST00000526991.2	+	1	532_533	c.416_417insTCATTCTCAA	c.(415-420)acgacgfs	p.T140fs	GNAL_ENST00000535121.1_Intron|GNAL_ENST00000423027.3_Intron|RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000334049.6_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	140	Interaction with IST1.				cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|lung(1)|urinary_tract(1)	3						ATGAGCAGCACGACGACGCTCA	0.545													False	0	True	18:11851926	0	TCATTCTCAA	11851927	-	TCATTCTCAA	11851926	7	5	61	1	0	1	1	0	0	0	0	0	3376	536	19	0	418	0	CHMP1B	18	11851926	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		11851926	66225322	266	5067											
DCC	1630	broad.mit.edu	37	chr18	50589756	50589757	+	Frame_Shift_Ins	INS	-	-	GATAGAAAAT													tttgaatgtacagtctctggINSaaagcctgtgcccactgtga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:50589756_50589757insGATAGAAAAT	ENST00000581580.1	+	3	297_298	c.32_33insGATAGAAAAT	c.(31-36)ggaaagfs	p.GK11fs	DCC_ENST00000412726.1_Frame_Shift_Ins_p.GK204fs|DCC_ENST00000442544.2_Frame_Shift_Ins_p.GK356fs|DCC_ENST00000580146.1_3'UTR			P43146	DCC_HUMAN	deleted in colorectal carcinoma	356					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAGTCTCTGGAAAGCCTGTGC	0.361													False	0	True	18:50589756	0	GATAGAAAAT	50589757	-	GATAGAAAAT	50589756	7	5	61	1	0	1	1	0	0	0	0	0	4307	1174	41	0	1089	0	DCC	18	50589756	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	38737830	50589756	27487492	267	5068											
WDR7	23335	broad.mit.edu	37	chr18	54547375	54547376	+	Frame_Shift_Ins	INS	-	-	TAGAACAAATCAATATACAAAAAGACAC													gactagtggtggatccaactINSactcgctggccagacatact							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:54547375_54547376insTAGAACAAATCAATATACAAAAAGACAC	ENST00000254442.3	+	21	3716_3717	c.3505_3506insTAGAACAAATCAATATACAAAAAGACAC	c.(3505-3507)tacfs	p.Y1169fs	WDR7_ENST00000357574.3_Frame_Shift_Ins_p.Y1136fs|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1169										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGGATCCAACTACTCGCTGGCC	0.396													False	0	False	18:54547375	0	TAGAACAAATCAATATACAAAAAGACAC	54547376	-	TAGAACAAATCAATATACAAAAAGACAC	54547375	7	5	61	1	0	1	1	0	0	0	0	0	17404	1522	53	0	3583	0	WDR7	18	54547375	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3957619	54547375	23529873	268	5069											
SERPINB7	8710	broad.mit.edu	37	chr18	61465967	61465968	+	In_Frame_Ins	INS	-	-	GAAAAAAAAATTGAGGGA													gaaaccataaattgccatttINScaaatctcccaaggtatgtc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:61465967_61465968insGAAAAAAAAATTGAGGGA	ENST00000398019.2	+	6	909_910	c.584_585insGAAAAAAAAATTGAGGGA	c.(583-588)ttcaaa>ttGAAAAAAAAATTGAGGGAcaaa	p.195_195F>LKKKLRD	SERPINB7_ENST00000336429.2_In_Frame_Ins_p.195_195F>LKKKLRD|SERPINB7_ENST00000546027.1_In_Frame_Ins_p.195_195F>LKKKLRD|SERPINB7_ENST00000540675.1_In_Frame_Ins_p.178_178F>LKKKLRD	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	195					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AATTGCCATTTCAAATCTCCCA	0.411													False	0	True	18:61465967	0	GAAAAAAAAATTGAGGGA	61465968	-	GAAAAAAAAATTGAGGGA	61465967	7	5	61	1	0	1	1	0	0	0	0	0	14187	1783	62	0	602	0	SERPINB7	18	61465967	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	6918592	61465967	16611281	269	5070											
RTTN	25914	broad.mit.edu	37	chr18	67684837	67684838	+	Frame_Shift_Ins	INS	-	-	TTTTATAAATAATTTTC													gagtaacttcaaccaaagaaINStagtcagattacttagatgt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr18:67684837_67684838insTTTTATAAATAATTTTC	ENST00000255674.6	-	46	6512_6513	c.6226_6227insGAAAATTATTTATAAAA	c.(6226-6228)attfs	p.I2076fs	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2076							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAACCAAAGAATAGTCAGATTA	0.366													False	0	False	18:67684837	0	TTTTATAAATAATTTTC	67684838	-	TTTTATAAATAATTTTC	67684837	7	5	61	1	0	1	1	0	0	0	0	0	13816	101	4	0	469	0	RTTN	18	67684837	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	6218870	67684837	10392411	270	5071											
REXO1	57455	broad.mit.edu	37	chr19	1825928	1825930	+	In_Frame_Del	DEL	CTC	CTC	-													agccccttctcctcactcttCtcttccttggggggctaaga					rs3217458		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:1825928_1825930delCTC	ENST00000170168.4	-	3	2018_2020	c.1924_1926delGAG	c.(1924-1926)gagdel	p.E642del		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	642						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCACTCTTCTCTTCCTTGGGG	0.606													False	1	True	19:1825928	0	-	1825930	CTC	-	1825928	7	5	61	1	0	1	0	1	0	0	0	0	13320	912	32	0	1795	0	REXO1	19	1825928	In_Frame_Del	DEL	CTC	TCGA-HZ-7925-01A-11D-2154-08		1825928	57303055	271	5072											
MUC16	94025	broad.mit.edu	37	chr19	8994466	8994467	+	Frame_Shift_Ins	INS	-	-	CCCTGATT													gaacttcctggagccaggccINSacatgttctcctcataccgc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:8994466_8994467insCCCTGATT	ENST00000397910.4	-	64	41628_41629	c.41425_41426insAATCAGGG	c.(41425-41427)tggfs	p.W13809fs	MUC16_ENST00000380951.5_Frame_Shift_Ins_p.W450fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13812	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGCCAGGCCACATGTTCTCC	0.54													False	0	False	19:8994466	0	CCCTGATT	8994467	-	CCCTGATT	8994466	7	5	61	1	0	1	1	0	0	0	0	0	10040	595	21	0	2181	0	MUC16	19	8994466	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	7168538	8994466	50134517	272	5073											
MUC16	94025	broad.mit.edu	37	chr19	9046560	9046561	+	Frame_Shift_Ins	INS	-	-	TTCACAGATCA													gtctgtggaggatgagtgacINSccaggaagccattgtatctg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:9046560_9046561insTTCACAGATCA	ENST00000397910.4	-	5	35273_35274	c.35070_35071insTGATCTGTGAA	c.(35068-35073)tgggtcfs	p.V11691fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11693	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATGAGTGACCCAGGAAGCCA	0.525													False	0	True	19:9046560	0	TTCACAGATCA	9046561	-	TTCACAGATCA	9046560	7	5	61	1	0	1	1	0	0	0	0	0	10040	507	18	0	8772	0	MUC16	19	9046560	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	52094	9046560	50082423	273	5074											
MUC16	94025	broad.mit.edu	37	chr19	9070917	9070918	+	Frame_Shift_Ins	INS	-	-	CAACC													aatagcacctgtgggcacatINSaagaaaaggcagtatttgtc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:9070917_9070918insCAACC	ENST00000397910.4	-	3	16731_16732	c.16528_16529insGGTTG	c.(16528-16530)tatfs	p.Y5510fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5512	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGGGCACATAAGAAAAGGCA	0.5													False	0	False	19:9070917	0	CAACC	9070918	-	CAACC	9070917	7	5	61	1	0	1	1	0	0	0	0	0	10040	1406	49	0	27322	0	MUC16	19	9070917	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	24357	9070917	50058066	274	5075											
MUC16	94025	broad.mit.edu	37	chr19	9091031	9091032	+	Frame_Shift_Ins	INS	-	-	CTTTTTCCATGACACTA													ggagaggagaagggatatccINSagtggttgatagaatcagtt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:9091031_9091032insCTTTTTCCATGACACTA	ENST00000397910.4	-	1	986_987	c.783_784insTAGTGTCATGGAAAAAG	c.(781-786)actggafs	p.G262fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	262	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGGATATCCAGTGGTTGATA	0.45													False	0	False	19:9091031	0	CTTTTTCCATGACACTA	9091032	-	CTTTTTCCATGACACTA	9091031	7	5	61	1	0	1	1	0	0	0	0	0	10040	603	21	0	43075	0	MUC16	19	9091031	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	20114	9091031	50037952	275	5076	81	2									
MUC16	94025	broad.mit.edu	37	chr19	9091033	9091034	+	In_Frame_Ins	INS	-	-	CAA													agaggagaagggatatccagINStggttgatagaatcagttcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:9091033_9091034insCAA	ENST00000397910.4	-	1	984_985	c.781_782insTTG	c.(781-783)act>aTTGct	p.261_261T>IA		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	261	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGATATCCAGTGGTTGATAGA	0.46													False	0	False	19:9091033	0	CAA	9091034	-	CAA	9091033	7	5	61	1	0	1	1	0	0	0	0	0	10040	1029	36	0	43077	0	MUC16	19	9091033	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	9091033	50037950	276	5077	81	2									
ZNF763	284390	broad.mit.edu	37	chr19	12089428	12089429	+	In_Frame_Ins	INS	-	-	GGAAATAAAGGTTTT													ggagagaaaccgtatgaatgINStaaacaatgtgttaaatcct							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:12089428_12089429insGGAAATAAAGGTTTT	ENST00000358987.3	+	4	816_817	c.689_690insGGAAATAAAGGTTTT	c.(688-693)tgtaaa>tgGGAAATAAAGGTTTTtaaa	p.230_230C>WEIKVF	ZNF763_ENST00000343949.5_In_Frame_Ins_p.233_233C>WEIKVF|ZNF763_ENST00000590798.1_In_Frame_Ins_p.250_250C>WEIKVF|ZNF763_ENST00000538752.1_In_Frame_Ins_p.250_250C>WEIKVF|ZNF763_ENST00000545530.1_In_Frame_Ins_p.108_108C>WEIKVF					zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CCGTATGAATGTAAACAATGTG	0.371													False	0	True	19:12089428	0	GGAAATAAAGGTTTT	12089429	-	GGAAATAAAGGTTTT	12089428	7	5	61	1	0	1	1	0	0	0	0	0	18219	1377	48	0	712	0	ZNF763	19	12089428	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2998395	12089428	47039555	277	5078											
ZNF221	7638	broad.mit.edu	37	chr19	44471413	44471414	+	Frame_Shift_Ins	INS	-	-	TCTCTGATGTTTC													tcagagactccacagtggagINSaaaagccattgaaatctgga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:44471413_44471414insTCTCTGATGTTTC	ENST00000251269.5	+	6	2087_2088	c.1759_1760insTCTCTGATGTTTC	c.(1759-1761)gaafs	p.E587fs	ZNF221_ENST00000592350.1_Frame_Shift_Ins_p.E587fs|ZNF221_ENST00000587682.1_Frame_Shift_Ins_p.E587fs	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CCACAGTGGAGAAAAGCCATTG	0.441													False	0	True	19:44471413	0	TCTCTGATGTTTC	44471414	-	TCTCTGATGTTTC	44471413	7	5	61	1	0	1	1	0	0	0	0	0	17858	943	33	0	1773	0	ZNF221	19	44471413	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	32381985	44471413	14657570	278	5079											
SYT3	84258	broad.mit.edu	37	chr19	51133283	51133283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccagtcccctggtacaGctctggcttaatctgcccaa	10	14	2	0			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:51133283G>A	ENST00000338916.4	-	3	1453	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	SYT3_ENST00000544769.1_Silent_p.L274L|SYT3_ENST00000600079.1_Silent_p.L274L|SYT3_ENST00000593901.1_Silent_p.L274L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	274						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCCTGGTACAGCTCTGGCTTA	0.677													False	0	False	19:51133283	0	A	51133283	G	A	51133283	2	1	61	1	0	0	0	0	0	0	0	1	15557	962	34	2		2	SYT3	19	51133283	Silent	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	6661870	51133283	7995700	279	5080											
ZNF578	147660	broad.mit.edu	37	chr19	53014946	53014947	+	Frame_Shift_Ins	INS	-	-	CAGTATGAAGTCTACG													ctgtggtaaggcttttattcINSatcagtcaagccttgcacgt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:53014946_53014947insCAGTATGAAGTCTACG	ENST00000421239.2	+	6	1556_1557	c.1312_1313insCAGTATGAAGTCTACG	c.(1312-1314)catfs	p.H438fs	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H438Y(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GGCTTTTATTCATCAGTCAAGC	0.386													False	0	False	19:53014946	0	CAGTATGAAGTCTACG	53014947	-	CAGTATGAAGTCTACG	53014946	7	5	61	1	0	1	1	0	0	0	0	0	18093	826	29	0	1322	0	ZNF578	19	53014946	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1881663	53014946	6114037	280	5081											
ZNF548	147694	broad.mit.edu	37	chr19	57910346	57910347	+	In_Frame_Ins	INS	-	-	TCCCTGTAT													ttatgaatgtaacaaatgtgINSggaaattctttaagtacagt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:57910346_57910347insTCCCTGTAT	ENST00000366197.5	+	3	941_942	c.691_692insTCCCTGTAT	c.(691-693)ggg>gTCCCTGTATgg	p.231_231G>VPVW	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_In_Frame_Ins_p.243_243G>VPVW|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAACAAATGTGGGAAATTCTTT	0.381													False	0	True	19:57910346	0	TCCCTGTAT	57910347	-	TCCCTGTAT	57910346	7	5	61	1	0	1	1	0	0	0	0	0	18063	1348	47	0	741	0	ZNF548	19	57910346	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	4895400	57910346	1218637	281	5082											
VN1R1	57191	broad.mit.edu	37	chr19	57967487	57967488	+	Frame_Shift_Ins	INS	-	-	TTATGGAT													cctgtgataataaaagacaaINSacttacatccagtgtcattc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr19:57967487_57967488insTTATGGAT	ENST00000321039.3	-	1	366_367	c.367_368insATCCATAA	c.(367-369)tttfs	p.F123fs	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	123					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		ATAAAAGACAAACTTACATCCA	0.441													False	0	True	19:57967487	0	TTATGGAT	57967488	-	TTATGGAT	57967487	7	5	61	1	0	1	1	0	0	0	0	0	17262	14	1	0	697	0	VN1R1	19	57967487	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	57141	57967487	1161496	282	5083											
NOP56	10528	broad.mit.edu	37	chr20	2636100	2636105	+	In_Frame_Del	DEL	GCTGAC	GCTGAC	-													aagctggagaagctggaggaGctgacaatggatggggccaa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	GCTGAC	GCTGAC	-	-	GCTGAC	GCTGAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:2636100_2636105delGCTGAC	ENST00000329276.5	+	6	1215_1220	c.699_704delGCTGAC	c.(697-705)gagctgaca>gaa	p.LT234del		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	234					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AGCTGGAGGAGCTGACAATGGATGGG	0.519													False	1	False	20:2636100	0	-	2636105	GCTGAC	-	2636100	7	5	61	1	0	1	0	1	0	0	0	0	10607	962	34	0	721	0	NOP56	20	2636100	In_Frame_Del	DEL	GCTGAC	TCGA-HZ-7925-01A-11D-2154-08		2636100	60389420	283	5084											
ATRN	8455	broad.mit.edu	37	chr20	3543080	3543081	+	Frame_Shift_Ins	INS	-	-	TA													ggcttgcagatgatctctacINScgatatgatgtggataccca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:3543080_3543081insTA	ENST00000262919.5	+	9	1673_1674	c.1605_1606insTA	c.(1606-1608)cgafs	p.R536fs	ATRN_ENST00000446916.2_Frame_Shift_Ins_p.R536fs	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	536					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATGATCTCTACCGATATGATGT	0.446													False	0	False	20:3543080	0	TA	3543081	-	TA	3543080	7	5	61	1	0	1	1	0	0	0	0	0	1210	518	18	0	1639	0	ATRN	20	3543080	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	906980	3543080	59482440	284	5085	82	2									
ATRN	8455	broad.mit.edu	37	chr20	3543081	3543082	+	Frame_Shift_Ins	INS	-	-	TGAAAATGTCCAAA													gcttgcagatgatctctaccINSgatatgatgtggatacccag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:3543081_3543082insTGAAAATGTCCAAA	ENST00000262919.5	+	9	1674_1675	c.1606_1607insTGAAAATGTCCAAA	c.(1606-1608)cgafs	p.R536fs	ATRN_ENST00000446916.2_Frame_Shift_Ins_p.R536fs	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	536					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TGATCTCTACCGATATGATGTG	0.441													False	0	False	20:3543081	0	TGAAAATGTCCAAA	3543082	-	TGAAAATGTCCAAA	3543081	7	5	61	1	0	1	1	0	0	0	0	0	1210	644	23	0	1640	0	ATRN	20	3543081	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	3543081	59482439	285	5086	82	2									
LRRN4	164312	broad.mit.edu	37	chr20	6031626	6031627	+	Frame_Shift_Ins	INS	-	-	GATTTTTG													gtctctgatccaccctgactINScaactgaaacacagaaggga							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:6031626_6031627insGATTTTTG	ENST00000378858.4	-	3	882_883	c.658_659insCAAAAATC	c.(658-660)gagfs	p.E220fs		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	220						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCACCCTGACTCAACTGAAACA	0.554													False	0	False	20:6031626	0	GATTTTTG	6031627	-	GATTTTTG	6031626	7	5	61	1	0	1	1	0	0	0	0	0	9099	1551	54	0	1575	0	LRRN4	20	6031626	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2488545	6031626	56993894	286	5087											
PAK7	57144	broad.mit.edu	37	chr20	9560880	9560881	+	Frame_Shift_Ins	INS	-	-	TTTGCCTTTTAAGGGAAAAT													atgggttttaaatgcacttgINSctccaaatggcatcatcggt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:9560880_9560881insTTTGCCTTTTAAGGGAAAAT	ENST00000378429.3	-	5	1447_1448	c.901_902insATTTTCCCTTAAAAGGCAAA	c.(901-903)gcafs	p.A301fs	PAK7_ENST00000353224.5_Frame_Shift_Ins_p.A301fs|PAK7_ENST00000378423.1_Frame_Shift_Ins_p.A301fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	301	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AAATGCACTTGCTCCAAATGGC	0.54													False	0	False	20:9560880	0	TTTGCCTTTTAAGGGAAAAT	9560881	-	TTTGCCTTTTAAGGGAAAAT	9560880	7	5	61	1	0	1	1	0	0	0	0	0	11473	1319	46	0	1285	0	PAK7	20	9560880	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	3529254	9560880	53464640	287	5088											
PAK7	57144	broad.mit.edu	37	chr20	9561464	9561465	+	Frame_Shift_Ins	INS	-	-	AAGCCTTT													aggctccctgatctggggtgINSggtgggctttctttccttag							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:9561464_9561465insAAGCCTTT	ENST00000378429.3	-	5	863_864	c.317_318insAAAGGCTT	c.(316-318)cccfs	p.-106fs	PAK7_ENST00000353224.5_Frame_Shift_Ins_p.-106fs|PAK7_ENST00000378423.1_Frame_Shift_Ins_p.-106fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7								ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GATCTGGGGTGGGTGGGCTTTC	0.545													False	0	True	20:9561464	0	AAGCCTTT	9561465	-	AAGCCTTT	9561464	7	5	61	1	0	1	1	0	0	0	0	0	11473	1335	47	0	1869	0	PAK7	20	9561464	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	584	9561464	53464056	288	5089											
NAA20	51126	broad.mit.edu	37	chr20	20007556	20007557	+	Frame_Shift_Ins	INS	-	-	A													ggagttactagaggagatttINScagaaaggtgagattcagtt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:20007556_20007557insA	ENST00000310450.4	+	4	385_386	c.298_299insA	c.(298-300)tcafs	p.S100fs	NAA20_ENST00000398602.2_Frame_Shift_Ins_p.S88fs|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Frame_Shift_Ins_p.S100fs	NM_181528.3	NP_852669.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	100	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						AGAGGAGATTTCAGAAAGGTGA	0.446													False	0	True	20:20007556	0	A	20007557	-	A	20007556	7	5	61	1	0	1	1	0	0	0	0	0	10187	1783	62	0	333	0	NAA20	20	20007556	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	10446092	20007556	43017964	289	5090	83	2									
NAA20	51126	broad.mit.edu	37	chr20	20007557	20007558	+	Frame_Shift_Ins	INS	-	-	ACATAAATAT													gagttactagaggagatttcINSagaaaggtgagattcagttt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:20007557_20007558insACATAAATAT	ENST00000310450.4	+	4	386_387	c.299_300insACATAAATAT	c.(298-303)tcagaafs	p.E101fs	NAA20_ENST00000398602.2_Frame_Shift_Ins_p.E89fs|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Frame_Shift_Ins_p.E101fs	NM_181528.3	NP_852669.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	101	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						GAGGAGATTTCAGAAAGGTGAG	0.446													False	0	False	20:20007557	0	ACATAAATAT	20007558	-	ACATAAATAT	20007557	7	5	61	1	0	1	1	0	0	0	0	0	10187	838	29	0	334	0	NAA20	20	20007557	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	20007557	43017963	290	5091	83	2									
EDEM2	55741	broad.mit.edu	37	chr20	33703415	33703416	+	Frame_Shift_Ins	INS	-	-	CACTGGAT													tcccatggccccgaactaacINSagtgtttttctgaaatttcg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:33703415_33703416insCACTGGAT	ENST00000374492.3	-	11	1662_1663	c.1557_1558insATCCAGTG	c.(1555-1560)actgttfs	p.V520fs	EDEM2_ENST00000374491.2_Frame_Shift_Ins_p.V483fs|EDEM2_ENST00000542871.1_Frame_Shift_Ins_p.V244fs|EDEM2_ENST00000541621.1_Frame_Shift_Ins_p.V299fs	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	520					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCCGAACTAACAGTGTTTTTCT	0.525													False	0	False	20:33703415	0	CACTGGAT	33703416	-	CACTGGAT	33703415	7	5	61	1	0	1	1	0	0	0	0	0	4942	478	17	0	182	0	EDEM2	20	33703415	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	13695858	33703415	29322105	291	5092											
RBL1	5933	broad.mit.edu	37	chr20	35663905	35663906	+	Frame_Shift_Ins	INS	-	-	TTTCTAAC													agaaattggagacaatggttINSgcatatctaaaaaaaaataa							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:35663905_35663906insTTTCTAAC	ENST00000373664.3	-	15	1975_1976	c.1909_1910insGTTAGAAA	c.(1909-1911)caafs	p.Q637fs	RBL1_ENST00000344359.3_Frame_Shift_Ins_p.Q637fs	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	637	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGACAATGGTTGCATATCtaaa	0.361													False	0	False	20:35663905	0	TTTCTAAC	35663906	-	TTTCTAAC	35663905	7	5	61	1	0	1	1	0	0	0	0	0	13188	1812	63	0	1337	0	RBL1	20	35663905	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1960490	35663905	27361615	292	5093											
PTPRT	11122	broad.mit.edu	37	chr20	40827957	40827962	+	In_Frame_Del	DEL	TCGGCA	TCGGCA	-													tgagcttggtggtgggtttgTcggcagaggccacaggcccc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TCGGCA	TCGGCA	-	-	TCGGCA	TCGGCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:40827957_40827962delTCGGCA	ENST00000373198.3	-	17	2710_2715	c.2475_2480delTGCCGA	c.(2473-2481)tctgccgac>tcc	p.AD826del	PTPRT_ENST00000373190.1_In_Frame_Del_p.AD804del|PTPRT_ENST00000373201.1_In_Frame_Del_p.AD794del|PTPRT_ENST00000373187.1_In_Frame_Del_p.AD804del|PTPRT_ENST00000356100.2_In_Frame_Del_p.AD813del|PTPRT_ENST00000373193.3_In_Frame_Del_p.AD807del|PTPRT_ENST00000373184.1_In_Frame_Del_p.AD794del	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	804					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTGGGTTTGTCGGCAGAGGCCACAG	0.553													False	1	False	20:40827957	0	-	40827962	TCGGCA	-	40827957	7	5	61	1	0	1	0	1	0	0	0	0	12891	1667	58	0	1975	0	PTPRT	20	40827957	In_Frame_Del	DEL	TCGGCA	TCGA-HZ-7925-01A-11D-2154-08	5164052	40827957	22197563	293	5094											
PTPRT	11122	broad.mit.edu	37	chr20	40944568	40944569	+	Frame_Shift_Ins	INS	-	-	TACAGCATCT													gctcacgggcaccgaaaagcINSactcaataatgtcagctgcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:40944568_40944569insTACAGCATCT	ENST00000373198.3	-	12	2168_2169	c.1933_1934insAGATGCTGTA	c.(1933-1935)tgcfs	p.C645fs	PTPRT_ENST00000373190.1_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373201.1_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373187.1_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000356100.2_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373193.3_Frame_Shift_Ins_p.C645fs|PTPRT_ENST00000373184.1_Frame_Shift_Ins_p.C645fs	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	645	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCGAAAAGCACTCAATAATG	0.53													False	0	False	20:40944568	0	TACAGCATCT	40944569	-	TACAGCATCT	40944568	7	5	61	1	0	1	1	0	0	0	0	0	12891	710	25	0	2532	0	PTPRT	20	40944568	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	116611	40944568	22080952	294	5095											
SERINC3	10955	broad.mit.edu	37	chr20	43135628	43135629	+	Frame_Shift_Ins	INS	-	-	GTTTTTA													ataaaaggcgcttgtgaaagINSacagtaaagctggagaaagg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:43135628_43135629insGTTTTTA	ENST00000342374.4	-	6	779_780	c.622_623insTAAAAAC	c.(622-624)tctfs	p.S208fs	SERINC3_ENST00000541235.1_Frame_Shift_Ins_p.S153fs|SERINC3_ENST00000255175.1_Frame_Shift_Ins_p.S208fs	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	208						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GCTTGTGAAAGACAGTAAAGCT	0.381													False	0	False	20:43135628	0	GTTTTTA	43135629	-	GTTTTTA	43135628	7	5	61	1	0	1	1	0	0	0	0	0	14162	942	33	0	818	0	SERINC3	20	43135628	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2191060	43135628	19889892	295	5096											
SYCP2	10388	broad.mit.edu	37	chr20	58449064	58449065	+	Frame_Shift_Ins	INS	-	-	TCTC													gataaggtgatatagattttINSgttatgcagtcataatcctg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:58449064_58449065insTCTC	ENST00000357552.3	-	35	3626_3627	c.3401_3402insGAGA	c.(3400-3402)acafs	p.-1134fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.-1134fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATATAGATTTTGTTATGCAGTC	0.302													False	0	True	20:58449064	0	TCTC	58449065	-	TCTC	58449064	7	5	61	1	0	1	1	0	0	0	0	0	15514	1799	63	0	1234	0	SYCP2	20	58449064	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	15313436	58449064	4576456	296	5097											
SLCO4A1	28231	broad.mit.edu	37	chr20	61297929	61297931	+	Splice_Site	DEL	TGA	TGA	-													cagccagctacggcgggaggTgagggccagatggcacctgg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr20:61297929_61297931delTGA	ENST00000370507.1	+	6	1568		c.e6+2		SLCO4A1_ENST00000217159.1_Splice_Site|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000470412.1_Splice_Site			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1						sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CGGCGGGAGGTGAGGGCCAGATG	0.655													False	1	False	20:61297929	0	-	61297931	TGA	-	61297929	8	5	61	1	0	1	0	1	0	0	1	0	14809	1710	59	0	1496	0	SLCO4A1	20	61297929	Splice_Site	DEL	TGA	TCGA-HZ-7925-01A-11D-2154-08	2848865	61297929	1727591	297	5098											
KCNE1	3753	broad.mit.edu	37	chr21	35821678	35821679	+	In_Frame_Ins	INS	-	-	ACCTGATTT													tgtccttctcttgccaggcaINStcggactcgatgtagacgtt							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr21:35821678_35821679insACCTGATTT	ENST00000337385.3	-	3	629_630	c.254_255insAAATCAGGT	c.(253-255)gat>gaAAATCAGGTt	p.85_85D>ENQV	KCNE1_ENST00000399286.2_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000399289.3_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000432085.1_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000399284.1_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000416357.2_In_Frame_Ins_p.85_85D>ENQV	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	85			D -> N (predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential between the mutant and the wildt-ype channels; dbSNP:rs1805128).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CTTGCCAGGCATCGGACTCGAT	0.55													False	0	False	21:35821678	0	ACCTGATTT	35821679	-	ACCTGATTT	35821678	7	5	61	1	0	1	1	0	0	0	0	0	8071	214	8	0	138	0	KCNE1	21	35821678	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		35821678	12308217	298	5099											
PEX26	55670	broad.mit.edu	37	chr22	18566374	18566375	+	Frame_Shift_Ins	INS	-	-	CTCAATGATT													cggaggctgaggagctagtgINSgtgggctctgcagcctttgg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:18566374_18566375insCTCAATGATT	ENST00000428061.2	+	3	543_544	c.543_544insCTCAATGATT	c.(544-546)gtgfs	p.V182fs	PEX26_ENST00000329627.6_Frame_Shift_Ins_p.V182fs|PEX26_ENST00000399744.3_Frame_Shift_Ins_p.V182fs	NM_001199319.1	NP_001186248.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	182					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGGAGCTAGTGGTGGGCTCTGC	0.569													False	0	False	22:18566374	0	CTCAATGATT	18566375	-	CTCAATGATT	18566374	7	5	61	1	0	1	1	0	0	0	0	0	11815	1335	47	0	553	0	PEX26	22	18566374	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		18566374	32738192	299	5100											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31845480	31845481	+	Frame_Shift_Ins	INS	-	-	TAAATATACTTATTTGTCAA													aaggccactcagaagattggINSaagaagcaggtctctgaact							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:31845480_31845481insTAAATATACTTATTTGTCAA	ENST00000344710.5	-	10	1253_1254	c.1096_1097insTTGACAAATAAGTATATTTA	c.(1096-1098)tccfs	p.S366fs	EIF4ENIF1_ENST00000397523.1_Frame_Shift_Ins_p.S517fs|EIF4ENIF1_ENST00000382180.2_Frame_Shift_Ins_p.S196fs|EIF4ENIF1_ENST00000330125.5_Frame_Shift_Ins_p.S541fs|EIF4ENIF1_ENST00000397525.1_Frame_Shift_Ins_p.S541fs	NM_001164502.1	NP_001157974.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	541						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGAAGATTGGAAGAAGCAGGT	0.475													False	0	False	22:31845480	0	TAAATATACTTATTTGTCAA	31845481	-	TAAATATACTTATTTGTCAA	31845480	7	5	61	1	0	1	1	0	0	0	0	0	5067	1174	41	0	1370	0	EIF4ENIF1	22	31845480	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	13279106	31845480	19459086	300	5101											
TCF20	6942	broad.mit.edu	37	chr22	42608966	42608967	+	Frame_Shift_Ins	INS	-	-	CTGAA													tgggccttgtggttccttctINSaggctaccagccatcccctg							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:42608966_42608967insCTGAA	ENST00000359486.3	-	1	2481_2482	c.2345_2346insTTCAG	c.(2344-2346)ctafs	p.-782fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.-782fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TGGTTCCTTCTAGGCTACCAGC	0.495													False	0	False	22:42608966	0	CTGAA	42608967	-	CTGAA	42608966	7	5	61	1	0	1	1	0	0	0	0	0	15772	1509	53	0	3574	0	TCF20	22	42608966	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	10763486	42608966	8695600	301	5102	84	2									
TCF20	6942	broad.mit.edu	37	chr22	42608968	42608969	+	Frame_Shift_Ins	INS	-	-	AA													ggccttgtggttccttctagINSgctaccagccatcccctgat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chr22:42608968_42608969insAA	ENST00000359486.3	-	1	2479_2480	c.2343_2344insTT	c.(2341-2346)agcctafs	p.L782fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.L782fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTTCCTTCTAGGCTACCAGCCA	0.485													False	0	False	22:42608968	0	AA	42608969	-	AA	42608968	7	5	61	1	0	1	1	0	0	0	0	0	15772	991	35	0	3576	0	TCF20	22	42608968	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	2	42608968	8695598	302	5103	84	2									
SLC38A5	92745	broad.mit.edu	37	chrX	48320638	48320639	+	Frame_Shift_Ins	INS	-	-	GCTG													cgaaacaaggaaaaacagcaINStgcaggtcagagagagacca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:48320638_48320639insGCTG	ENST00000376876.3	-	9	1456_1457	c.613_614insCAGC	c.(613-615)atgfs	p.M205fs	SLC38A5_ENST00000317669.5_Frame_Shift_Ins_p.M205fs|SLC38A5_ENST00000376875.1_Frame_Shift_Ins_p.M154fs			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	205					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GAAAAACAGCATGCAGGTCAGA	0.54													False	0	False	X:48320638	0	GCTG	48320639	-	GCTG	48320638	7	5	61	1	0	1	1	0	0	0	0	0	14687	217	8	0	836	0	SLC38A5	23	48320638	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08		48320638	106949922	303	5104											
KLHL4	0	broad.mit.edu	37	chrX	86880784	86880785	+	Frame_Shift_Ins	INS	-	-	TATATGA													ttatgctgtaggaggcatggINSatgctatgaaaggtaaaaat							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:86880784_86880785insTATATGA	ENST00000373119.4	+	6	1457_1458	c.1312_1313insTATATGA	c.(1312-1314)gatfs	p.D438fs	KLHL4_ENST00000373114.4_Frame_Shift_Ins_p.D438fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	438						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGGAGGCATGGATGCTATGAAA	0.381													False	0	False	X:86880784	0	TATATGA	86880785	-	TATATGA	86880784	7	5	61	1	0	1	1	0	0	0	0	0	8441	1174	41	0	1334	0	KLHL4	23	86880784	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	38560146	86880784	68389776	304	5105											
DRP2	1821	broad.mit.edu	37	chrX	100503213	100503214	+	Frame_Shift_Ins	INS	-	-	AGAAGAGAAAAAAAATATAGCCAAAAGTAGAA													cgtttggaggaggaaagaggINScatcctggtcaacgtgccac							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:100503213_100503214insAGAAGAGAAAAAAAATATAGCCAAAAGTAGAA	ENST00000395209.3	+	13	1915_1916	c.1388_1389insAGAAGAGAAAAAAAATATAGCCAAAAGTAGAA	c.(1387-1392)ggcatcfs	p.I464fs	DRP2_ENST00000538510.1_Frame_Shift_Ins_p.I464fs|DRP2_ENST00000402866.1_Frame_Shift_Ins_p.I464fs|DRP2_ENST00000541709.1_Frame_Shift_Ins_p.I386fs	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	464					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GAGGAAAGAGGCATCCTGGTCA	0.495													False	0	False	X:100503213	0	AGAAGAGAAAAAAAATATAGCCAAAAGTAGAA	100503214	-	AGAAGAGAAAAAAAATATAGCCAAAAGTAGAA	100503213	7	5	61	1	0	1	1	0	0	0	0	0	4794	1203	42	0	1430	0	DRP2	23	100503213	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	13622429	100503213	54767347	305	5106											
ESX1	80712	broad.mit.edu	37	chrX	103498998	103499033	+	In_Frame_Del	DEL	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	-													tggcccctccacggtcgtctGgggcggctcctcctgctctt					rs141891783		TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	-	-	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:103498998_103499033delGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	ENST00000372588.4	-	2	391_426	c.308_343delTGCTCGAGCTGAAGCAAGAGCAGGAGGAGCCGCCCC	c.(307-345)ctgctcgagctgaagcaagagcaggaggagccgccccag>cag	p.LLELKQEQEEPP103del		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	103					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ACGGTCGTCTGGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCAGGGGCGGCTC	0.712													False	1	False	X:103498998	0	-	103499033	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	-	103498998	7	5	61	1	0	1	0	1	0	0	0	0	5295	1357	47	0	889	0	ESX1	23	103498998	In_Frame_Del	DEL	GGGGCGGCTCCTCCTGCTCTTGCTTCAGCTCGAGCA	TCGA-HZ-7925-01A-11D-2154-08	2995785	103498998	51771562	306	5107											
GRIA3	2892	broad.mit.edu	37	chrX	122538758	122538759	+	Frame_Shift_Ins	INS	-	-	A													ggcatggttggggaacttgtINSctatggggtgagttttttcc							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:122538758_122538759insA	ENST00000371256.5	+	10	1545_1546	c.1493_1494insA	c.(1492-1497)gtctatfs	p.Y499fs	GRIA3_ENST00000264357.5_Frame_Shift_Ins_p.Y499fs|GRIA3_ENST00000542149.1_Frame_Shift_Ins_p.Y499fs|GRIA3_ENST00000371251.1_Frame_Shift_Ins_p.Y499fs|GRIA3_ENST00000541091.1_Frame_Shift_Ins_p.Y483fs	NM_007325.4	NP_015564.4	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	499					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGGGAACTTGTCTATGGGGTGA	0.376													False	0	False	X:122538758	0	A	122538759	-	A	122538758	7	5	61	1	0	1	1	0	0	0	0	0	6816	1667	58	0	1531	0	GRIA3	23	122538758	Frame_Shift_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	19039760	122538758	32731802	307	5108	85	2									
GRIA3	2892	broad.mit.edu	37	chrX	122538759	122538760	+	In_Frame_Ins	INS	-	-	ATTACA													gcatggttggggaacttgtcINStatggggtgagttttttcca							TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:122538759_122538760insATTACA	ENST00000371256.5	+	10	1546_1547	c.1494_1495insATTACA	c.(1495-1497)tat>ATTACAtat	p.498_499insIT	GRIA3_ENST00000264357.5_In_Frame_Ins_p.498_499insIT|GRIA3_ENST00000542149.1_In_Frame_Ins_p.498_499insIT|GRIA3_ENST00000371251.1_In_Frame_Ins_p.498_499insIT|GRIA3_ENST00000541091.1_In_Frame_Ins_p.482_483insIT	NM_007325.4	NP_015564.4	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	498					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGGAACTTGTCTATGGGGTGAG	0.371													False	0	False	X:122538759	0	ATTACA	122538760	-	ATTACA	122538759	7	5	61	1	0	1	1	0	0	0	0	0	6816	900	32	0	1532	0	GRIA3	23	122538759	In_Frame_Ins	INS	-	TCGA-HZ-7925-01A-11D-2154-08	1	122538759	32731801	308	5109	85	2									
L1CAM	3897	broad.mit.edu	37	chrX	153135631	153135631	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtcttgttgtggttctGgtaggtgacacggtcggctg	17	7	2	1			TCGA-HZ-7925-01A-11D-2154-08	TCGA-HZ-7925-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	923b6998-e4e5-4912-9081-b7bc081918e6	2c4fb285-71ad-4896-807b-6303c36b37fd	g.chrX:153135631G>A	ENST00000370060.1	-	9	1060	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q293*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q286*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q291*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q293*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	291	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGTGGTTCTGGTAGGTGACA	0.642													False	0	False	X:153135631	0	A	153135631	G	A	153135631	4	1	61	1	0	0	0	0	0	1	0	0	8639	1357	47	2	2986	2	L1CAM	23	153135631	Nonsense_Mutation	SNP	G	TCGA-HZ-7925-01A-11D-2154-08	30596872	153135631	2134929	309	5110											
MEGF6	1953	broad.mit.edu	37	chr1	3415047	3415047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggcagccagctctgacGtcccgggggaggcactctac	14	15	2	1			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:3415047G>A	ENST00000356575.4	-	26	3466	c.3240C>T	c.(3238-3240)gaC>gaT	p.D1080D	MEGF6_ENST00000294599.4_Silent_p.D889D	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1080						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CAGCTCTGACGTCCCGGGGGA	0.706													False	0	False	1:3415047	0	A	3415047	G	A	3415047	2	1	62	1	0	0	0	0	0	0	0	1	9529	1136	40	1		1	MEGF6	1	3415047	Silent	SNP	G	TCGA-HZ-7926-01A-11D-2154-08		3415047	245835574	1	5111											
NBPF1	55672	broad.mit.edu	37	chr1	16918794	16918794	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtagactgtggccagcGtgccaggtaaccgtctgcag	15	10	1	2			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:16918794G>A	ENST00000430580.2	-	0	712					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGTGGCCAGCGTGCCAGGTAA	0.502													False	0	False	1:16918794	0	A	16918794	G	A	16918794	1	1	62	1	0	0	0	0	0	0	0	0	10259	1160	40	1		1	NBPF1	1	16918794	Translation_Start_Site	SNP	G	TCGA-HZ-7926-01A-11D-2154-08	13503747	16918794	232331827	2	5112											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	62	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-HZ-7926-01A-11D-2154-08	6068591	22987385	226263236	3	5113											
CCDC18	343099	broad.mit.edu	37	chr1	93672842	93672842	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttaatgaatgaaaaccgaGaattaaaggtccgtgttgca	9	6	0	3			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:93672842G>T	ENST00000343253.7	+	9	1598	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Nonsense_Mutation_p.E366*|CCDC18_ENST00000338949.4_Nonsense_Mutation_p.E165*|CCDC18_ENST00000557479.1_Nonsense_Mutation_p.E484*			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	366										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAAAACCGAGAATTAAAGGT	0.333													False	0	False	1:93672842	0	T	93672842	G	T	93672842	4	4	62	1	0	0	0	0	0	1	0	0	2815	943	33	3	1484	3	CCDC18	1	93672842	Nonsense_Mutation	SNP	G	TCGA-HZ-7926-01A-11D-2154-08	70685457	93672842	155577779	4	5114											
AMPD1	270	broad.mit.edu	37	chr1	115216703	115216704	+	Splice_Site	INS	-	-	GTTGTTTCC													aagtactgtagcacgggactINSctgaaaaagaaaagtaaaaa							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:115216703_115216704insGTTGTTTCC	ENST00000369538.3	-	13	1935	c.1888_1888insGGAAACAAC	c.(1888-1890)agt>GGAAACAACagt	p.629_630insGNN	AMPD1_ENST00000353928.6_Splice_Site_p.600_601insGNN|AMPD1_ENST00000520113.2_Splice_Site_p.633_634insGNN	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	600					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AGCACGGGACTCTGAAAAAGAA	0.351													False	0	False	1:115216703	0	GTTGTTTCC	115216704	-	GTTGTTTCC	115216703	8	5	62	1	0	1	1	0	0	0	1	0	585	1565	54	0	454	0	AMPD1	1	115216703	Splice_Site	INS	-	TCGA-HZ-7926-01A-11D-2154-08	21543861	115216703	134033918	5	5115											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	62	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-HZ-7926-01A-11D-2154-08	37454812	152671515	96579106	6	5116											
MUC1	4582	broad.mit.edu	37	chr1	155160807	155160807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgagaggaggtaccgtGctatggtgagtgctactggc	18	6	0	2			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:155160807G>A	ENST00000368395.1	-	3	791	c.720C>T	c.(718-720)agC>agT	p.S240S	MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000342482.4_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1020	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGGTACCGTGCTATGGTGAG	0.507			T	IGH@	B-NHL								False	0	False	1:155160807	0	A	155160807	G	A	155160807	2	1	62	1	0	0	0	0	0	0	0	1	10037	1334	46	2		2	MUC1	1	155160807	Silent	SNP	G	TCGA-HZ-7926-01A-11D-2154-08	2489292	155160807	94089814	7	5117											
OR10K1	391109	broad.mit.edu	37	chr1	158435756	158435756	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccactgcgctactcagtgctCatgggacatggggtgtgtat	13	10	2	0			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:158435756C>T	ENST00000289451.2	+	1	485	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ACTCAGTGCTCATGGGACATG	0.547													False	0	False	1:158435756	0	T	158435756	C	T	158435756	2	4	62	1	0	0	0	0	0	0	0	1	10981	813	29	2		2	OR10K1	1	158435756	Silent	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	3274949	158435756	90814865	8	5118											
DDR2	4921	broad.mit.edu	37	chr1	162688902	162688902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttcctgctgctgcctAtcttgagttctgcaaaagct	9	11	2	1			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:162688902A>G	ENST00000367922.3	+	4	487	c.49A>G	c.(49-51)Atc>Gtc	p.I17V	DDR2_ENST00000367921.3_Missense_Mutation_p.I17V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2						cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCTGCTGCCTATCTTGAGTTC	0.438													False	0	False	1:162688902	0	G	162688902	A	G	162688902	3	3	62	1	0	0	0	0	1	0	0	0	4362	449	16	4	51	4	DDR2	1	162688902	Missense_Mutation	SNP	A	TCGA-HZ-7926-01A-11D-2154-08	4253146	162688902	86561719	9	5119											
TDRD5	163589	broad.mit.edu	37	chr1	179631421	179631433	+	Splice_Site	DEL	GGTTAGATCCTTG	GGTTAGATCCTTG	-													tgtaaagaaatgccacagaaGgttagatccttggaaaaata							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	GGTTAGATCCTTG	GGTTAGATCCTTG	-	-	GGTTAGATCCTTG	GGTTAGATCCTTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:179631421_179631433delGGTTAGATCCTTG	ENST00000367614.1	+	14	2702	c.2343delGGTTAGATCCTTG	c.(2341-2343)aag>aa	p.K781fs	TDRD5_ENST00000294848.8_Splice_Site_p.K781fs|TDRD5_ENST00000444136.1_Splice_Site_p.K835fs	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	781					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGCCACAGAAGGTTAGATCCTTGGAAAAATAGA	0.479													False	1	False	1:179631421	0	-	179631433	GGTTAGATCCTTG	-	179631421	8	5	62	1	0	1	0	1	0	0	1	0	15815	1014	35	0	2393	0	TDRD5	1	179631421	Splice_Site	DEL	GGTTAGATCCTTG	TCGA-HZ-7926-01A-11D-2154-08	16942519	179631421	69619200	10	5120											
CENPF	1063	broad.mit.edu	37	chr1	214813479	214813480	+	Frame_Shift_Ins	INS	-	-	TTTATTT													agagtccaaagccttgctgaINSgtgctttagagttaaaaaag							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:214813479_214813480insTTTATTT	ENST00000366955.3	+	12	1966_1967	c.1798_1799insTTTATTT	c.(1798-1800)agtfs	p.S600fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	600					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCCTTGCTGAGTGCTTTAGAG	0.332													False	0	False	1:214813479	0	TTTATTT	214813480	-	TTTATTT	214813479	7	5	62	1	0	1	1	0	0	0	0	0	3254	304	11	0	1840	0	CENPF	1	214813479	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	35182058	214813479	34437142	11	5121											
MIA3	375056	broad.mit.edu	37	chr1	222835427	222835427	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgggcctctacctcatcctCgatggtcagctgaggcatct	10	14	4	1			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:222835427C>T	ENST00000344922.5	+	25	5168	c.5143C>T	c.(5143-5145)Cga>Tga	p.R1715*	MIA3_ENST00000344441.6_Nonsense_Mutation_p.R1715*|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Nonsense_Mutation_p.R593*	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1715	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACCTCATCCTCGATGGTCAGC	0.443													False	0	False	1:222835427	0	T	222835427	C	T	222835427	4	4	62	1	0	0	0	0	0	1	0	0	9632	876	31	1	5241	1	MIA3	1	222835427	Nonsense_Mutation	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	8021948	222835427	26415194	12	5122											
DISC1	27185	broad.mit.edu	37	chr1	231829947	231829948	+	Frame_Shift_Ins	INS	-	-	GAAACCCCATCTCTACTACAAATACAAAAAAAAAAAA													gggtggcagcaagagtttgcINSagccatggatagttctgaga							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:231829947_231829948insGAAACCCCATCTCTACTACAAATACAAAAAAAAAAAA	ENST00000439617.2	+	2	496_497	c.443_444insGAAACCCCATCTCTACTACAAATACAAAAAAAAAAAA	c.(442-447)gcagccfs	p.A149fs	DISC1_ENST00000366633.3_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000537876.1_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000535983.1_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000317586.4_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602281.1_Frame_Shift_Ins_p.A149fs|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000366636.4_Frame_Shift_Ins_p.A149fs	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	149	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CAAGAGTTTGCAGCCATGGATA	0.624													False	0	False	1:231829947	0	GAAACCCCATCTCTACTACAAATACAAAAAAAAAAAA	231829948	-	GAAACCCCATCTCTACTACAAATACAAAAAAAAAAAA	231829947	7	5	62	1	0	1	1	0	0	0	0	0	4568	710	25	0	449	0	DISC1	1	231829947	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	8994520	231829947	17420674	13	5123											
NLRP3	114548	broad.mit.edu	37	chr1	247592989	247592989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctcagtgacaattctctGggggacccagggatgagagt	14	9	2	2			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:247592989G>A	ENST00000366497.2	+	5	3039	c.2259G>A	c.(2257-2259)ctG>ctA	p.L753L	NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000336119.3_Silent_p.L753L|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Silent_p.L753L|NLRP3_ENST00000366496.2_Silent_p.L753L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	810					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAATTCTCTGGGGGACCCAG	0.527													False	0	True	1:247592989	0	A	247592989	G	A	247592989	2	1	62	1	0	0	0	0	0	0	0	1	10546	1335	47	2		2	NLRP3	1	247592989	Silent	SNP	G	TCGA-HZ-7926-01A-11D-2154-08	15763042	247592989	1657632	14	5124											
OR14A16	284532	broad.mit.edu	37	chr1	247978542	247978544	+	In_Frame_Del	DEL	AGG	AGG	-													gttggacccacagtaggataAggagaaggtgccagctgtgt					rs74163811		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:247978542_247978544delAGG	ENST00000357627.1	-	1	487_489	c.488_490delCCT	c.(487-492)tcctta>tta	p.S163del		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CAGTAGGATAAGGAGAAGGTGCC	0.453													False	1	False	1:247978542	0	-	247978544	AGG	-	247978542	7	5	62	1	0	1	0	1	0	0	0	0	11013	69	3	0	443	0	OR14A16	1	247978542	In_Frame_Del	DEL	AGG	TCGA-HZ-7926-01A-11D-2154-08	385553	247978542	1272079	15	5125											
PPM1B	5495	broad.mit.edu	37	chr2	44428513	44428514	+	Frame_Shift_Ins	INS	-	-	TGGGTTTATCCAA													ctggtcattttttgcagtttINSatgatggtcatgctggatcc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:44428513_44428514insTGGGTTTATCCAA	ENST00000378551.2	+	2	587_588	c.175_176insTGGGTTTATCCAA	c.(175-177)tatfs	p.Y59fs	PPM1B_ENST00000282412.4_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000409895.4_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000409432.3_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378540.4_3'UTR	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	59					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTTGCAGTTTATGATGGTCAT	0.45													False	0	True	2:44428513	0	TGGGTTTATCCAA	44428514	-	TGGGTTTATCCAA	44428513	7	5	62	1	0	1	1	0	0	0	0	0	12410	1754	61	0	177	0	PPM1B	2	44428513	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08		44428513	198770860	16	5126											
EHBP1	23301	broad.mit.edu	37	chr2	63206454	63206455	+	Frame_Shift_Ins	INS	-	-	CAATT													cagaaaagttgaaagaaaggINStcaaaggcatctggaggtga							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:63206454_63206455insCAATT	ENST00000263991.5	+	16	3179_3180	c.2697_2698insCAATT	c.(2698-2700)tcafs	p.S900fs	EHBP1_ENST00000405015.3_Frame_Shift_Ins_p.S865fs|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000431489.1_Frame_Shift_Ins_p.S865fs|EHBP1_ENST00000405289.1_Frame_Shift_Ins_p.S865fs|EHBP1_ENST00000354487.3_Frame_Shift_Ins_p.S865fs	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	900						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGAAAGAAAGGTCAAAGGCATC	0.421													False	0	False	2:63206454	0	CAATT	63206455	-	CAATT	63206454	7	5	62	1	0	1	1	0	0	0	0	0	5005	1252	44	0	2755	0	EHBP1	2	63206454	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	18777941	63206454	179992919	17	5127											
UGP2	7360	broad.mit.edu	37	chr2	64117306	64117306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgacatttggaaaaaAtgtttcattaaaggtatgtt	9	2	1	2			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:64117306A>G	ENST00000337130.5	+	9	1882	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S	UGP2_ENST00000467648.2_Missense_Mutation_p.N458S|UGP2_ENST00000394417.2_Missense_Mutation_p.N458S|UGP2_ENST00000445915.2_Missense_Mutation_p.N478S	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	469	Oligomerization (By similarity).				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TTTGGAAAAAATGTTTCATTA	0.289													False	0	True	2:64117306	0	G	64117306	A	G	64117306	3	3	62	1	0	0	0	0	1	0	0	0	17027	101	4	4	1440	4	UGP2	2	64117306	Missense_Mutation	SNP	A	TCGA-HZ-7926-01A-11D-2154-08	910852	64117306	179082067	18	5128											
PAIP2B	400961	broad.mit.edu	37	chr2	71417026	71417026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgacagtccatttaactgCtgttgcaactgtcccatggc	8	12	0	1			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:71417026C>T	ENST00000244221.8	-	3	430	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	88					negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding			large_intestine(1)|lung(1)	2						CATTTAACTGCTGTTGCAACT	0.453													False	0	False	2:71417026	0	T	71417026	C	T	71417026	2	4	62	1	0	0	0	0	0	0	0	1	11466	796	28	2		2	PAIP2B	2	71417026	Silent	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	7299720	71417026	171782347	19	5129											
IL1R1	3554	broad.mit.edu	37	chr2	102792134	102792135	+	Frame_Shift_Ins	INS	-	-	AAAAATAAGAGATTTGATAAAGTCAGTATCACAAACA													taatggaacagagtaaaggcINSttattgttgtaaaactactt							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:102792134_102792135insAAAAATAAGAGATTTGATAAAGTCAGTATCACAAACA	ENST00000424272.1	+	11	1573_1574	c.1332_1333insAAAAATAAGAGATTTGATAAAGTCAGTATCACAAACA	c.(1333-1335)ttafs	p.L445fs	IL1R1_ENST00000409929.1_Intron|IL1R1_ENST00000409329.1_Frame_Shift_Ins_p.L445fs|IL1R1_ENST00000410023.1_Intron|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Intron|IL1R1_ENST00000409288.1_Frame_Shift_Ins_p.L445fs|AC007271.3_ENST00000428188.1_RNA			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	0	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AGAGTAAAGGCTTATTGTTGTA	0.381													False	0	False	2:102792134	0	AAAAATAAGAGATTTGATAAAGTCAGTATCACAAACA	102792135	-	AAAAATAAGAGATTTGATAAAGTCAGTATCACAAACA	102792134	7	5	62	1	0	1	1	0	0	0	0	0	7708	812	28	0		0	IL1R1	2	102792134	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	31375108	102792134	140407239	20	5130											
GALNT5	11227	broad.mit.edu	37	chr2	158152271	158152272	+	Frame_Shift_Ins	INS	-	-	TATAAATG													ttaagtagaaagaaagtggcINSctgtccagtaatcgaagtca							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:158152271_158152272insTATAAATG	ENST00000259056.4	+	4	2323_2324	c.1838_1839insTATAAATG	c.(1837-1842)gcctgtfs	p.C614fs		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	614					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAGAAAGTGGCCTGTCCAGTAA	0.366													False	0	False	2:158152271	0	TATAAATG	158152272	-	TATAAATG	158152271	7	5	62	1	0	1	1	0	0	0	0	0	6259	739	26	0	1852	0	GALNT5	2	158152271	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	55360137	158152271	85047102	21	5131											
SCN3A	6328	broad.mit.edu	37	chr2	165950945	165950946	+	Frame_Shift_Ins	INS	-	-	TCACA													tttcttcattgcattgtaatINSattttttctgttcctctgtc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:165950945_165950946insTCACA	ENST00000283254.7	-	26	4941_4942	c.4474_4475insTGTGA	c.(4474-4476)tatfs	p.Y1492fs	SCN3A_ENST00000409101.3_Frame_Shift_Ins_p.Y1443fs|SCN3A_ENST00000360093.3_Frame_Shift_Ins_p.Y1492fs	NM_001081676.1|NM_006922.3	NP_001075145.1|NP_008853.3	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1492						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGCATTGTAATATTTTTTCTGT	0.361													False	0	True	2:165950945	0	TCACA	165950946	-	TCACA	165950945	7	5	62	1	0	1	1	0	0	0	0	0	13999	1406	49	0	1539	0	SCN3A	2	165950945	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	7798674	165950945	77248428	22	5132											
PGAP1	80055	broad.mit.edu	37	chr2	197767430	197767431	+	Frame_Shift_Ins	INS	-	-	GAAAGAAGAAATAATATATAGC													taaatttatgtgtcgagcatINSttagaatccaatagttgttt							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:197767430_197767431insGAAAGAAGAAATAATATATAGC	ENST00000409188.1	-	5	743_744	c.559_560insGCTATATATTATTTCTTCTTTC	c.(559-561)aatfs	p.N187fs	PGAP1_ENST00000354764.3_Frame_Shift_Ins_p.N229fs|PGAP1_ENST00000409475.1_Frame_Shift_Ins_p.N229fs|PGAP1_ENST00000485830.1_5'UTR			Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	229					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTGTCGAGCATTTAGAATCCAA	0.351													False	0	True	2:197767430	0	GAAAGAAGAAATAATATATAGC	197767431	-	GAAAGAAGAAATAATATATAGC	197767430	7	5	62	1	0	1	1	0	0	0	0	0	11846	1493	52	0	2174	0	PGAP1	2	197767430	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	31816485	197767430	45431943	23	5133											
MAP2	4133	broad.mit.edu	37	chr2	210543383	210543384	+	In_Frame_Ins	INS	-	-	TTTTTTAATTGC													gagaaagaagctcaacataaINSagaccagactgcagctctgc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:210543383_210543384insTTTTTTAATTGC	ENST00000360351.4	+	5	856_857	c.350_351insTTTTTTAATTGC	c.(349-354)aaagac>aaTTTTTTAATTGCagac	p.117_117K>NFLIA	MAP2_ENST00000361559.4_In_Frame_Ins_p.117_117K>NFLIA|MAP2_ENST00000392194.1_In_Frame_Ins_p.117_117K>NFLIA|MAP2_ENST00000447185.1_In_Frame_Ins_p.117_117K>NFLIA|MAP2_ENST00000199940.6_In_Frame_Ins_p.117_117K>NFLIA	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	117					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GCTCAACATAAAGACCAGACTG	0.441													False	0	True	2:210543383	0	TTTTTTAATTGC	210543384	-	TTTTTTAATTGC	210543383	7	5	62	1	0	1	1	0	0	0	0	0	9302	14	1	0	356	0	MAP2	2	210543383	In_Frame_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	12775953	210543383	32655990	24	5134											
MAP2	4133	broad.mit.edu	37	chr2	210559008	210559008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcatgtcaatcaatttgcCgatgtcttgcctagattcca	7	10	3	1	rs146432517		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:210559008C>T	ENST00000360351.4	+	7	2620	c.2114C>T	c.(2113-2115)cCg>cTg	p.P705L	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P701L|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	705			P -> L (in a colorectal cancer sample; somatic mutation).		central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.P705L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATCAATTTGCCGATGTCTTGC	0.438													False	0	False	2:210559008	0	T	210559008	C	T	210559008	3	4	62	1	0	0	0	0	1	0	0	0	9302	652	23	1	2128	1	MAP2	2	210559008	Missense_Mutation	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	15625	210559008	32640365	25	5135											
ERBB4	2066	broad.mit.edu	37	chr2	212589903	212589903	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgtcacattgttctgcAcacaccgtccttgtcactgc	7	16	3	0			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:212589903A>G	ENST00000342788.4	-	6	949	c.639T>C	c.(637-639)tgT>tgC	p.C213C	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Silent_p.C213C|ERBB4_ENST00000436443.1_Silent_p.C213C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	213	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATTGTTCTGCACACACCGTCC	0.507										TSP Lung(8;0.080)			False	0	True	2:212589903	0	G	212589903	A	G	212589903	2	3	62	1	0	0	0	0	0	0	0	1	5241	157	6	4		4	ERBB4	2	212589903	Silent	SNP	A	TCGA-HZ-7926-01A-11D-2154-08	2030895	212589903	30609470	26	5136											
OBSL1	23363	broad.mit.edu	37	chr2	220420834	220420834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaccatggatgaagaggCggtggatgtgcccatcctgg	15	9	0	3	rs138086602	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:220420834C>T	ENST00000404537.1	-	14	4573	c.4517G>A	c.(4516-4518)cGc>cAc	p.R1506H	OBSL1_ENST00000603926.1_Missense_Mutation_p.R1506H|OBSL1_ENST00000265317.5_Missense_Mutation_p.R405H|OBSL1_ENST00000265318.4_Missense_Mutation_p.A1373T|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1414H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1506	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.R1506H(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GATGAAGAGGCGGTGGATGTG	0.697													False	0	False	2:220420834	0	T	220420834	C	T	220420834	3	4	62	1	0	0	0	0	1	0	0	0	10881	768	27	1	1228	1	OBSL1	2	220420834	Missense_Mutation	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	7830931	220420834	22778539	27	5137											
SEPT2	4735	broad.mit.edu	37	chr2	242283288	242283289	+	In_Frame_Ins	INS	-	-	AACACATTGCTA													aacccagagcacaatgacttINStctgaagctgagaaccatgc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:242283288_242283289insAACACATTGCTA	ENST00000391973.2	+	9	1346_1347	c.818_819insAACACATTGCTA	c.(817-822)tttctg>ttAACACATTGCTAtctg	p.273_273F>LTHCY	SEPT2_ENST00000391971.2_In_Frame_Ins_p.273_273F>LTHCY|SEPT2_ENST00000407971.1_In_Frame_Ins_p.233_233F>LTHCY|SEPT2_ENST00000360051.3_In_Frame_Ins_p.273_273F>LTHCY|SEPT2_ENST00000401990.1_In_Frame_Ins_p.283_283F>LTHCY|SEPT2_ENST00000402092.2_In_Frame_Ins_p.273_273F>LTHCY	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	273					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CACAATGACTTTCTGAAGCTGA	0.49													False	0	True	2:242283288	0	AACACATTGCTA	242283289	-	AACACATTGCTA	242283288	7	5	62	1	0	1	1	0	0	0	0	0	14145	1841	64	0	848	0	SEPT2	2	242283288	In_Frame_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	21862454	242283288	916085	28	5138											
IP6K2	51447	broad.mit.edu	37	chr3	48726088	48726088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcccaggagttcacggCgcaggtaccgcccattgtgg	15	13	1	0			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:48726088C>T	ENST00000328631.5	-	6	1122	c.899G>A	c.(898-900)cGc>cAc	p.R300H		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	300					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GAGTTCACGGCGCAGGTACCG	0.567													False	0	False	3:48726088	0	T	48726088	C	T	48726088	3	4	62	1	0	0	0	0	1	0	0	0	7839	768	27	1	385	1	IP6K2	3	48726088	Missense_Mutation	SNP	C	TCGA-HZ-7926-01A-11D-2154-08		48726088	149296342	29	5139											
ATP2C1	27032	broad.mit.edu	37	chr3	130686063	130686064	+	Frame_Shift_Ins	INS	-	-	AAAACTATAAT													ttcatggattctataacccaINSgctgttagcagaattgttga							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:130686063_130686064insAAAACTATAAT	ENST00000510168.1	+	15	1747_1748	c.1197_1198insAAAACTATAAT	c.(1198-1200)gctfs	p.A400fs	ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.A395fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.A434fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.A345fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.A384fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	400					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TCTATAACCCAGCTGTTAGCAG	0.342									Hailey-Hailey disease				False	0	False	3:130686063	0	AAAACTATAAT	130686064	-	AAAACTATAAT	130686063	7	5	62	1	0	1	1	0	0	0	0	0	1147	175	7	0	1251	0	ATP2C1	3	130686063	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	81959975	130686063	67336367	30	5140	86	2									
ATP2C1	27032	broad.mit.edu	37	chr3	130686064	130686065	+	Frame_Shift_Ins	INS	-	-	AGTT													tcatggattctataacccagINSctgttagcagaattgttgag							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:130686064_130686065insAGTT	ENST00000510168.1	+	15	1748_1749	c.1198_1199insAGTT	c.(1198-1200)gctfs	p.A400fs	ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.A395fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.A434fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.A345fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.A384fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	400					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CTATAACCCAGCTGTTAGCAGA	0.342									Hailey-Hailey disease				False	0	False	3:130686064	0	AGTT	130686065	-	AGTT	130686064	7	5	62	1	0	1	1	0	0	0	0	0	1147	971	34	0	1252	0	ATP2C1	3	130686064	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	1	130686064	67336366	31	5141	86	2									
MED12L	116931	broad.mit.edu	37	chr3	150883771	150883772	+	Splice_Site	INS	-	-	TAATGAGGCCAAAAATAAC													aacaaagataaccaagaggtINSagttaatttttttttaattc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:150883771_150883772insTAATGAGGCCAAAAATAAC	ENST00000474524.1	+	10	1532		c.e10+2		MED12L_ENST00000273432.4_Splice_Site|MED12L_ENST00000309237.4_Splice_Site|MED12L_ENST00000422248.2_Splice_Site	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACCAAGAGGTAGTTAATTTTT	0.337													False	0	False	3:150883771	0	TAATGAGGCCAAAAATAAC	150883772	-	TAATGAGGCCAAAAATAAC	150883771	8	5	62	1	0	1	1	0	0	0	1	0	9496	1652	57	0	1534	0	MED12L	3	150883771	Splice_Site	INS	-	TCGA-HZ-7926-01A-11D-2154-08	20197707	150883771	47138659	32	5142											
RSRC1	51319	broad.mit.edu	37	chr3	157921019	157921020	+	Frame_Shift_Ins	INS	-	-	GTAAGCAGATTTTG													gggaaggacaaggaattacaINStaacatcaaacgtgggtaag							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:157921019_157921020insGTAAGCAGATTTTG	ENST00000295930.3	+	4	641_642	c.479_480insGTAAGCAGATTTTG	c.(478-483)cataacfs	p.HN160fs	RSRC1_ENST00000475278.2_Frame_Shift_Ins_p.HN160fs|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Frame_Shift_Ins_p.HN160fs|RSRC1_ENST00000464171.1_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	160					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			aaggaATTACATAACATCAAAC	0.411													False	0	False	3:157921019	0	GTAAGCAGATTTTG	157921020	-	GTAAGCAGATTTTG	157921019	7	5	62	1	0	1	1	0	0	0	0	0	13793	217	8	0	489	0	RSRC1	3	157921019	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	7037248	157921019	40101411	33	5143											
SI	6476	broad.mit.edu	37	chr3	164783214	164783215	+	Frame_Shift_Ins	INS	-	-	ATGTAAGAAATTATTTT													ctaagggaccaatgctggtgINStcaaacctgcaccataaaag							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:164783214_164783215insATGTAAGAAATTATTTT	ENST00000264382.3	-	7	703_704	c.641_642insAAAATAATTTCTTACAT	c.(640-642)gacfs	p.D214fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	214	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAATGCTGGTGTCAAACCTGCA	0.302										HNSCC(35;0.089)			False	0	False	3:164783214	0	ATGTAAGAAATTATTTT	164783215	-	ATGTAAGAAATTATTTT	164783214	7	5	62	1	0	1	1	0	0	0	0	0	14378	1368	48	0	5009	0	SI	3	164783214	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	6862195	164783214	33239216	34	5144											
DHX15	1665	broad.mit.edu	37	chr4	24578203	24578204	+	In_Frame_Ins	INS	-	-	CGATAC													agctcgcaactccttctcctINStttctttctccctctctcgc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:24578203_24578204insCGATAC	ENST00000336812.4	-	2	325_326	c.169_170insGTATCG	c.(169-171)aag>aGTATCGag	p.57_57K>SIE		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	57					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ctccttctccttttctttctcc	0.48													False	0	True	4:24578203	0	CGATAC	24578204	-	CGATAC	24578203	7	5	62	1	0	1	1	0	0	0	0	0	4531	1609	56	0	2269	0	DHX15	4	24578203	In_Frame_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08		24578203	166576073	35	5145											
PTTG2	10744	broad.mit.edu	37	chr4	37962609	37962610	+	Frame_Shift_Del	DEL	AT	AT	-													gtttgcagtctccttcaagcAttctgtcgaccctggatgtt							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:37962609_37962610delAT	ENST00000504686.1	+	1	554_555	c.554_555delAT	c.(553-555)catfs	p.H185fs	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000261439.4_Intron	NM_006607.2	NP_006598.2	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	0					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						TCCTTCAAGCATTCTGTCGACC	0.441													False	1	False	4:37962609	0	-	37962610	AT	-	37962609	7	5	62	1	0	1	0	1	0	0	0	0	12900	217	8	0	556	0	PTTG2	4	37962609	Frame_Shift_Del	DEL	AT	TCGA-HZ-7926-01A-11D-2154-08	13384406	37962609	153191667	36	5146											
ATP8A1	10396	broad.mit.edu	37	chr4	42627669	42627669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaaaaatgaattagcagCtcttctgaactgagagtaga	10	5	2	5			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:42627669C>T	ENST00000381668.5	-	3	457	c.226G>A	c.(226-228)Gct>Act	p.A76T	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A76T|ATP8A1_ENST00000510289.1_3'UTR	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	76					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAATTAGCAGCTCTTCTGAAC	0.353													False	0	False	4:42627669	0	T	42627669	C	T	42627669	3	4	62	1	0	0	0	0	1	0	0	0	1196	797	28	2	3486	2	ATP8A1	4	42627669	Missense_Mutation	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	4665060	42627669	148526607	37	5147											
RUFY3	22902	broad.mit.edu	37	chr4	71629301	71629302	+	Frame_Shift_Ins	INS	-	-	AGGTTATAAGA													tctcggacaaaataaatcctINStctgggggcctctagaactg							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:71629301_71629302insAGGTTATAAGA	ENST00000226328.4	+	3	948_949	c.385_386insAGGTTATAAGA	c.(385-387)ttcfs	p.F129fs	RUFY3_ENST00000536664.1_Frame_Shift_Ins_p.F113fs|RUFY3_ENST00000381006.3_Frame_Shift_Ins_p.F129fs|RUFY3_ENST00000417478.2_Frame_Shift_Ins_p.F189fs|RUFY3_ENST00000502653.1_Frame_Shift_Ins_p.F76fs	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	129	RUN.				negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AAATAAATCCTTCTGGGGGCCT	0.371													False	0	False	4:71629301	0	AGGTTATAAGA	71629302	-	AGGTTATAAGA	71629301	7	5	62	1	0	1	1	0	0	0	0	0	13819	1609	56	0	757	0	RUFY3	4	71629301	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	29001632	71629301	119524975	38	5148											
ANKRD17	26057	broad.mit.edu	37	chr4	74124072	74124083	+	In_Frame_Del	DEL	CCGCCTCCACCG	CCGCCTCCACCG	-													tggtgccgccgccgccacctCcgcctccaccgccgcctcca					rs138773964	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CCGCCTCCACCG	CCGCCTCCACCG	-	-	CCGCCTCCACCG	CCGCCTCCACCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:74124072_74124083delCCGCCTCCACCG	ENST00000358602.4	-	1	419_430	c.303_314delCGGTGGAGGCGG	c.(301-315)ggcggtggaggcgga>gga	p.101_105GGGGG>G	ANKRD17_ENST00000330838.6_In_Frame_Del_p.101_105GGGGG>G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	101	Gly-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			gccgccacctccgcctccaccgccgcctccac	0.651													False	1	False	4:74124072	0	-	74124083	CCGCCTCCACCG	-	74124072	7	5	62	1	0	1	0	1	0	0	0	0	646	855	30	0	7633	0	ANKRD17	4	74124072	In_Frame_Del	DEL	CCGCCTCCACCG	TCGA-HZ-7926-01A-11D-2154-08	2494771	74124072	117030204	39	5149											
HELQ	113510	broad.mit.edu	37	chr4	84353360	84353360	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgaccagctctgccaatcatCtgtttatattgattcctctt	5	12	4	1			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:84353360C>T	ENST00000295488.3	-	10	2271	c.2109G>A	c.(2107-2109)caG>caA	p.Q703Q	HELQ_ENST00000510985.1_Silent_p.Q636Q	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	703	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TGCCAATCATCTGTTTATATT	0.358								Other identified genes with known or suspected DNA repair function					False	0	False	4:84353360	0	T	84353360	C	T	84353360	2	4	62	1	0	0	0	0	0	0	0	1	7094	912	32	2		2	HELQ	4	84353360	Silent	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	10229288	84353360	106800916	40	5150											
ARHGAP24	83478	broad.mit.edu	37	chr4	86915838	86915839	+	Frame_Shift_Ins	INS	-	-	A													aagccccaagatggagtgagINScaacaacaatgaaattcaga							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:86915838_86915839insA	ENST00000395184.1	+	9	1497_1498	c.1031_1032insA	c.(1030-1035)agcaacfs	p.SN344fs	ARHGAP24_ENST00000395183.2_Frame_Shift_Ins_p.SN249fs|ARHGAP24_ENST00000264343.4_Frame_Shift_Ins_p.SN251fs	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	344					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GATGGAGTGAGCAACAACAATG	0.47													False	0	True	4:86915838	0	A	86915839	-	A	86915838	7	5	62	1	0	1	1	0	0	0	0	0	875	971	34	0	1177	0	ARHGAP24	4	86915838	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	2562478	86915838	104238438	41	5151	87	2									
ARHGAP24	83478	broad.mit.edu	37	chr4	86915840	86915841	+	Frame_Shift_Ins	INS	-	-	GTTTTTATTTATTTCT													gccccaagatggagtgagcaINSacaacaatgaaattcagaag							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:86915840_86915841insGTTTTTATTTATTTCT	ENST00000395184.1	+	9	1499_1500	c.1033_1034insGTTTTTATTTATTTCT	c.(1033-1035)aacfs	p.N345fs	ARHGAP24_ENST00000395183.2_Frame_Shift_Ins_p.N250fs|ARHGAP24_ENST00000264343.4_Frame_Shift_Ins_p.N252fs	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	345					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TGGAGTGAGCAACAACAATGAA	0.47													False	0	True	4:86915840	0	GTTTTTATTTATTTCT	86915841	-	GTTTTTATTTATTTCT	86915840	7	5	62	1	0	1	1	0	0	0	0	0	875	130	5	0	1179	0	ARHGAP24	4	86915840	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	2	86915840	104238436	42	5152	87	2									
MTTP	4547	broad.mit.edu	37	chr4	100512445	100512445	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caggctcatcaagacaaagtGatcaaaattaaggccttgga	9	8	3	2			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:100512445G>C	ENST00000457717.1	+	6	811	c.555G>C	c.(553-555)gtG>gtC	p.V185V	MTTP_ENST00000265517.5_Silent_p.V185V|MTTP_ENST00000511045.1_Silent_p.V212V	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	185	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AAGACAAAGTGATCAAAATTA	0.403													False	0	False	4:100512445	0	C	100512445	G	C	100512445	2	2	62	1	0	0	0	0	0	0	0	1	10031	1277	45	5		5	MTTP	4	100512445	Silent	SNP	G	TCGA-HZ-7926-01A-11D-2154-08	13596605	100512445	90641831	43	5153											
ETFDH	2110	broad.mit.edu	37	chr4	159627479	159627480	+	Frame_Shift_Ins	INS	-	-	TTAAAAACATGAAATGTTAAGTG													atttacactggaatcttttaINSctggatattgagaggaatgg							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:159627479_159627480insTTAAAAACATGAAATGTTAAGTG	ENST00000307738.5	+	10	1401_1402	c.1283_1284insTTAAAAACATGAAATGTTAAGTG	c.(1282-1287)tactggfs	p.W429fs	ETFDH_ENST00000511912.1_Frame_Shift_Ins_p.W476fs			Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	476					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GGAATCTTTTACTGGATATTGA	0.391													False	0	False	4:159627479	0	TTAAAAACATGAAATGTTAAGTG	159627480	-	TTAAAAACATGAAATGTTAAGTG	159627479	7	5	62	1	0	1	1	0	0	0	0	0	5303	391	14	0	1466	0	ETFDH	4	159627479	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	59115034	159627479	31526797	44	5154											
CDH10	1008	broad.mit.edu	37	chr5	24535262	24535262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcattgacatctgtcagcGtgatgttcacagtggttgtc	11	8	4	2			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:24535262G>A	ENST00000264463.4	-	5	1280	c.773C>T	c.(772-774)aCg>aTg	p.T258M		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	258	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCTGTCAGCGTGATGTTCAC	0.483										HNSCC(23;0.051)			False	0	False	5:24535262	0	A	24535262	G	A	24535262	3	1	62	1	0	0	0	0	1	0	0	0	3119	1145	40	1	1625	1	CDH10	5	24535262	Missense_Mutation	SNP	G	TCGA-HZ-7926-01A-11D-2154-08		24535262	156379998	45	5155											
DDX4	54514	broad.mit.edu	37	chr5	55059848	55059848	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatattttgtataggtttttCaaacagcaggtttgaagatg	9	3	1	2			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:55059848C>G	ENST00000505374.1	+	6	382	c.290C>G	c.(289-291)tCa>tGa	p.S97*	DDX4_ENST00000354991.5_Nonsense_Mutation_p.S97*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.S97*|DDX4_ENST00000508580.1_3'UTR|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S97*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	97	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATAGGTTTTTCAAACAGCAGG	0.318													False	0	True	5:55059848	0	G	55059848	C	G	55059848	4	3	62	1	0	0	0	0	0	1	0	0	4385	838	29	5	308	5	DDX4	5	55059848	Nonsense_Mutation	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	30524586	55059848	125855412	46	5156											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	62	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-HZ-7926-01A-11D-2154-08	23550596	78610444	102304816	47	5157											
ACOT12	134526	broad.mit.edu	37	chr5	80640766	80640767	+	Frame_Shift_Ins	INS	-	-	ACAA													ttttccttatcatcagcagcINSattgtaaatgagaaaagcac							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:80640766_80640767insACAA	ENST00000307624.3	-	8	895_896	c.867_868insTTGT	c.(865-870)aatgctfs	p.A290fs		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	290	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	p.A290S(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TCATCAGCAGCATTGTAAATGA	0.47													False	0	False	5:80640766	0	ACAA	80640767	-	ACAA	80640766	7	5	62	1	0	1	1	0	0	0	0	0	150	710	25	0	831	0	ACOT12	5	80640766	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	2030322	80640766	100274494	48	5158											
VCAN	1462	broad.mit.edu	37	chr5	82835841	82835841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaattttaagtgacactgGagcagaaggacccacggtgg	13	7	0	3			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:82835841G>A	ENST00000265077.3	+	8	7584	c.7019G>A	c.(7018-7020)gGa>gAa	p.G2340E	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.G1353E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2340	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGTGACACTGGAGCAGAAGGA	0.468													False	0	False	5:82835841	0	A	82835841	G	A	82835841	3	1	62	1	0	0	0	0	1	0	0	0	17222	1174	41	2	7045	2	VCAN	5	82835841	Missense_Mutation	SNP	G	TCGA-HZ-7926-01A-11D-2154-08	2195075	82835841	98079419	49	5159											
GPR98	84059	broad.mit.edu	37	chr5	90086832	90086833	+	Frame_Shift_Ins	INS	-	-	AAACTCAACAAAG													gtacctgagatagaggaagaINSttatgtgatccagcttgttt							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:90086832_90086833insAAACTCAACAAAG	ENST00000405460.2	+	70	14282_14283	c.14186_14187insAAACTCAACAAAG	c.(14185-14190)gattatfs	p.DY4729fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.DY390fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4729	Calx-beta 32.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATAGAGGAAGATTATGTGATCC	0.441													False	0	False	5:90086832	0	AAACTCAACAAAG	90086833	-	AAACTCAACAAAG	90086832	7	5	62	1	0	1	1	0	0	0	0	0	6768	333	12	0	14464	0	GPR98	5	90086832	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	7250991	90086832	90828428	50	5160											
SLCO4C1	353189	broad.mit.edu	37	chr5	101576431	101576431	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatggcatacctaataatcGaaggaccataaattgtattc	6	7	0	0			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:101576431G>A	ENST00000310954.6	-	11	2153	c.1867C>T	c.(1867-1869)Cga>Tga	p.R623*		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	623					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	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)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCTAATAATCGAAGGACCATA	0.323													False	0	False	5:101576431	0	A	101576431	G	A	101576431	4	1	62	1	0	0	0	0	0	1	0	0	14810	1066	37	1	319	1	SLCO4C1	5	101576431	Nonsense_Mutation	SNP	G	TCGA-HZ-7926-01A-11D-2154-08	11489599	101576431	79338829	51	5161											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834438	101834438	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcgaggacttcggggtTcccttggccctcctgtcctt	12	14	0	0			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:101834438T>G	ENST00000506729.1	-	1	282	c.111A>C	c.(109-111)ggA>ggC	p.G37G	SLCO6A1_ENST00000379810.1_Silent_p.G37G|SLCO6A1_ENST00000389019.3_Silent_p.G37G|SLCO6A1_ENST00000513675.1_Silent_p.G37G|SLCO6A1_ENST00000379807.3_Silent_p.G37G			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	37						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACTTCGGGGTTCCCTTGGCCC	0.602													False	0	True	5:101834438	0	G	101834438	T	G	101834438	2	3	62	1	0	0	0	0	0	0	0	1	14812	1770	62	4		4	SLCO6A1	5	101834438	Silent	SNP	T	TCGA-HZ-7926-01A-11D-2154-08	258007	101834438	79080822	52	5162											
BRD8	10902	broad.mit.edu	37	chr5	137502365	137502366	+	In_Frame_Ins	INS	-	-	CGTCCC													agtgaaggaagcaagaggtgINStggtgaactgtgtaggacca							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:137502365_137502366insCGTCCC	ENST00000254900.5	-	10	1209_1210	c.838_839insGGGACG	c.(838-840)aca>aGGGACGca	p.280_280T>RDA	BRD8_ENST00000230901.5_In_Frame_Ins_p.353_353T>RDA|BRD8_ENST00000455658.2_In_Frame_Ins_p.239_239T>RDA|BRD8_ENST00000411594.2_Intron|BRD8_ENST00000402931.1_In_Frame_Ins_p.280_280T>RDA	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	280					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGCAAGAGGTGTGGTGAACTGT	0.46													False	0	False	5:137502365	0	CGTCCC	137502366	-	CGTCCC	137502365	7	5	62	1	0	1	1	0	0	0	0	0	1513	1377	48	0	3004	0	BRD8	5	137502365	In_Frame_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	35667927	137502365	43412895	53	5163	88	2									
BRD8	10902	broad.mit.edu	37	chr5	137502367	137502368	+	Frame_Shift_Ins	INS	-	-	A													tgaaggaagcaagaggtgtgINSgtgaactgtgtaggaccagc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:137502367_137502368insA	ENST00000254900.5	-	10	1207_1208	c.836_837insT	c.(835-837)accfs	p.T279fs	BRD8_ENST00000230901.5_Frame_Shift_Ins_p.T352fs|BRD8_ENST00000455658.2_Frame_Shift_Ins_p.T238fs|BRD8_ENST00000411594.2_Intron|BRD8_ENST00000402931.1_Frame_Shift_Ins_p.T279fs	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	279					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAGAGGTGTGGTGAACTGTGT	0.455													False	0	False	5:137502367	0	A	137502368	-	A	137502367	7	5	62	1	0	1	1	0	0	0	0	0	1513	1335	47	0	3006	0	BRD8	5	137502367	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	2	137502367	43412893	54	5164	88	2									
PCDHB3	0	broad.mit.edu	37	chr5	140482066	140482066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgctcaaggccacggaGcccgggctgttcggcgtgtg	16	13	1	0			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:140482066G>A	ENST00000231130.2	+	1	1833	c.1833G>A	c.(1831-1833)gaG>gaA	p.E611E		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		611	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.E611D(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCACGGAGCCCGGGCTGT	0.706													False	0	True	5:140482066	0	A	140482066	G	A	140482066	2	1	62	1	0	0	0	0	0	0	0	1	11611	962	34	2		2	PCDHB3	5	140482066	Silent	SNP	G	TCGA-HZ-7926-01A-11D-2154-08	2979699	140482066	40433194	55	5165											
TCERG1	10915	broad.mit.edu	37	chr5	145838618	145838683	+	In_Frame_Del	DEL	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	-													ctcaggcccaggcacaagctCaggcccaggctcaggctcag					rs111965890	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	-	-	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:145838618_145838683delCAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	ENST00000296702.5	+	4	648_713	c.610_675delCAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	c.(610-675)caggcccaggctcaggctcaggcccaggcccaggcccaggcccaggcccaggcccaagcccaagccdel	p.QAQAQAQAQAQAQAQAQAQAQA204del	TCERG1_ENST00000394421.2_In_Frame_Del_p.QAQAQAQAQAQAQAQAQAQAQA204del	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	204	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.Q212Q(1)|p.A211A(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ggcacaagctcaggcccaggctcaggctcaggcccaggcccaggcccaggcccaggcccaggcccaagcccaagcccaggcccagg	0.68													False	1	True	5:145838618	0	-	145838683	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	-	145838618	7	5	62	1	0	1	0	1	0	0	0	0	15767	827	29	0	624	0	TCERG1	5	145838618	In_Frame_Del	DEL	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	TCGA-HZ-7926-01A-11D-2154-08	5356552	145838618	35076642	56	5166											
HAVCR1	26762	broad.mit.edu	37	chr5	156479558	156479572	+	In_Frame_Del	DEL	TTGGAACAGTCGTCA	TTGGAACAGTCGTCA	-													tgttgttggaacagttgtcgTtggaacagtcgtcattggaa					rs139041445	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	TTGGAACAGTCGTCA	TTGGAACAGTCGTCA	-	-	TTGGAACAGTCGTCA	TTGGAACAGTCGTCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:156479558_156479572delTTGGAACAGTCGTCA	ENST00000339252.3	-	3	1005_1019	c.473_487delTGACGACTGTTCCAA	c.(472-489)atgacgactgttccaacg>acg	p.MTTVP158del	HAVCR1_ENST00000425854.1_In_Frame_Del_p.MTTVP158del|HAVCR1_ENST00000522693.1_In_Frame_Del_p.MTTVP158del|HAVCR1_ENST00000544197.1_In_Frame_Del_p.MTTVP158del|HAVCR1_ENST00000523175.1_In_Frame_Del_p.MTTVP158del	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	157	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity	p.T160_V161insT(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGTTGTCGTTGGAACAGTCGTCATTGGAACAGT	0.488													False	1	False	5:156479558	0	-	156479572	TTGGAACAGTCGTCA	-	156479558	7	5	62	1	0	1	0	1	0	0	0	0	7020	1725	60	0	631	0	HAVCR1	5	156479558	In_Frame_Del	DEL	TTGGAACAGTCGTCA	TCGA-HZ-7926-01A-11D-2154-08	10640940	156479558	24435702	57	5167											
RREB1	6239	broad.mit.edu	37	chr6	7231788	7231808	+	In_Frame_Del	DEL	GAGGGGCCGGAAAAGGGGGAT	GAGGGGCCGGAAAAGGGGGAT	-													ccagcgggcacgtcgaagaaGaggggccggaaaagggggat					rs35521383	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	GAGGGGCCGGAAAAGGGGGAT	GAGGGGCCGGAAAAGGGGGAT	-	-	GAGGGGCCGGAAAAGGGGGAT	GAGGGGCCGGAAAAGGGGGAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:7231788_7231808delGAGGGGCCGGAAAAGGGGGAT	ENST00000379938.2	+	10	3993_4013	c.3456_3476delGAGGGGCCGGAAAAGGGGGAT	c.(3454-3477)aagaggggccggaaaagggggatg>aag	p.RGRKRGM1153del	RREB1_ENST00000334984.6_In_Frame_Del_p.RGRKRGM1153del|RREB1_ENST00000349384.6_In_Frame_Del_p.RGRKRGM1153del|RREB1_ENST00000379933.3_In_Frame_Del_p.RGRKRGM1153del	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1153					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGTCGAAGAAGAGGGGCCGGAAAAGGGGGATGAGGAGCCGA	0.665													False	1	True	6:7231788	0	-	7231808	GAGGGGCCGGAAAAGGGGGAT	-	7231788	7	5	62	1	0	1	0	1	0	0	0	0	13758	933	33	0	3482	0	RREB1	6	7231788	In_Frame_Del	DEL	GAGGGGCCGGAAAAGGGGGAT	TCGA-HZ-7926-01A-11D-2154-08		7231788	163883279	58	5168											
HIST1H4E	8367	broad.mit.edu	37	chr6	26204947	26204948	+	Frame_Shift_Ins	INS	-	-	A													accgtaaggtcctgcgagatINSaacatccagggcattaccaa							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:26204947_26204948insA	ENST00000360441.4	+	1	90_91	c.75_76insA	c.(76-78)aacfs	p.N26fs		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	26					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TCCTGCGAGATAACATCCAGGG	0.584													False	2	False	6:26204947	0	A	26204948	-	A	26204947	7	5	62	1	0	1	1	0	0	0	0	0	7216	1403	49	0	77	0	HIST1H4E	6	26204947	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	18973159	26204947	144910120	59	5169											
HIST1H3F	8968	broad.mit.edu	37	chr6	26250790	26250791	+	In_Frame_Ins	INS	-	-	ACC													cagctgcttgcgcggggcttINStgccgccagtggacttacga							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:26250790_26250791insACC	ENST00000446824.2	-	1	44_45	c.43_44insGGT	c.(43-45)aaa>aGGTaa	p.15_15K>R*		NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	15					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						GCGCGGGGCTTTGCCGCCAGTG	0.574													False	0	True	6:26250790	0	ACC	26250791	-	ACC	26250790	7	5	62	1	0	1	1	0	0	0	0	0	7207	1841	64	0	370	0	HIST1H3F	6	26250790	In_Frame_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	45843	26250790	144864277	60	5170											
NKAPL	222698	broad.mit.edu	37	chr6	28227796	28227797	+	Frame_Shift_Ins	INS	-	-	T													tctgacacaaattctgactcINStgatgatgataaaaagagag							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:28227796_28227797insT	ENST00000343684.3	+	1	699_700	c.647_648insT	c.(646-651)tctgatfs	p.D217fs		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	217	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AATTCTGACTCTGATGATGATA	0.302													False	1	True	6:28227796	0	T	28227797	-	T	28227796	7	5	62	1	0	1	1	0	0	0	0	0	10508	913	32	0	649	0	NKAPL	6	28227796	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	1977006	28227796	142887271	61	5171											
SCAND3	114821	broad.mit.edu	37	chr6	28539912	28539913	+	In_Frame_Ins	INS	-	-	AAATATTGATATGTAAGG													ggatagtcatttttagctttINStatccaaaatgaaggaagtg							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:28539912_28539913insAAATATTGATATGTAAGG	ENST00000452236.2	-	4	4370_4371	c.3753_3754insCCTTACATATCAATATTT	c.(3751-3756)ataaaa>ataCCTTACATATCAATATTTaaa	p.1251_1252IK>IPYISIFK		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1251					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tttttagcttttatccaaaatg	0.376													False	0	True	6:28539912	0	AAATATTGATATGTAAGG	28539913	-	AAATATTGATATGTAAGG	28539912	7	5	62	1	0	1	1	0	0	0	0	0	13956	1850	64	0	227	0	SCAND3	6	28539912	In_Frame_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	312116	28539912	142575155	62	5172											
CUL9	23113	broad.mit.edu	37	chr6	43155033	43155033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgggctgtaccctttgccGtacctccagcccgaacctca	9	16	1	0	rs148427416		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:43155033G>A	ENST00000252050.4	+	6	1521	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	CUL9_ENST00000372647.2_Silent_p.P479P|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	479					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCCTTTGCCGTACCTCCAGC	0.532													False	0	False	6:43155033	0	A	43155033	G	A	43155033	2	1	62	1	0	0	0	0	0	0	0	1	4086	1132	40	1		1	CUL9	6	43155033	Silent	SNP	G	TCGA-HZ-7926-01A-11D-2154-08	14615121	43155033	127960034	63	5173											
PRDM13	59336	broad.mit.edu	37	chr6	100061823	100061823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagcgctgcgcgctgccgCccctcgacccgggcggtctc	14	19	1	0			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:100061823C>T	ENST00000369215.4	+	4	1617	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CGCGCTGCCGCCCCTCGACCC	0.731													False	0	True	6:100061823	0	T	100061823	C	T	100061823	3	4	62	1	0	0	0	0	1	0	0	0	12530	739	26	2	1326	2	PRDM13	6	100061823	Missense_Mutation	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	56906790	100061823	71053244	64	5174											
RWDD1	51389	broad.mit.edu	37	chr6	116910112	116910113	+	Frame_Shift_Ins	INS	-	-	TCCATACATTTATAATAATTACTAATTTGGTTAT													ctagaagagaagaagaaaagINSaaacaaaaagaaaaagaagc					rs149510582	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:116910112_116910113insTCCATACATTTATAATAATTACTAATTTGGTTAT	ENST00000466444.2	+	4	594_595	c.378_379insTCCATACATTTATAATAATTACTAATTTGGTTAT	c.(379-381)aaafs	p.K127fs	RWDD1_ENST00000392526.1_Frame_Shift_Ins_p.K31fs|RWDD1_ENST00000487832.2_Frame_Shift_Ins_p.K31fs	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	127				TRREEEKKQKE -> LEERRKNKR (in Ref. 1; AAD27733).			protein binding	p.K126N(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		aagaagaaaagaaacaaaaaga	0.292													False	0	True	6:116910112	0	TCCATACATTTATAATAATTACTAATTTGGTTAT	116910113	-	TCCATACATTTATAATAATTACTAATTTGGTTAT	116910112	7	5	62	1	0	1	1	0	0	0	0	0	13833	933	33	0	392	0	RWDD1	6	116910112	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	16848289	116910112	54204955	65	5175											
RMND1	55005	broad.mit.edu	37	chr6	151766776	151766777	+	In_Frame_Ins	INS	-	-	GGG													tattcaaaccactagctgttINSttatcaggaaggaacaaatc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:151766776_151766777insGGG	ENST00000367303.4	-	2	292_293	c.170_171insCCC	c.(169-171)aaa>aaCCCa	p.57_57K>NP	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	57										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CACTAGCTGTTTTATCAGGAAG	0.386													False	0	True	6:151766776	0	GGG	151766777	-	GGG	151766776	7	5	62	1	0	1	1	0	0	0	0	0	13475	1838	64	0	1222	0	RMND1	6	151766776	In_Frame_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	34856664	151766776	19348291	66	5176	89	2									
RMND1	55005	broad.mit.edu	37	chr6	151766777	151766778	+	Translation_Start_Site	INS	-	-	TCTAAATGGTTTATAAAAATATTAAAGAGGCATTTCTCATCTG													attcaaaccactagctgtttINStatcaggaaggaacaaatcc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:151766777_151766778insTCTAAATGGTTTATAAAAATATTAAAGAGGCATTTCTCATCTG	ENST00000491268.1	-	0	182_183				RMND1_ENST00000367303.4_Frame_Shift_Ins_p.K57fs			Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		ACTAGCTGTTTTATCAGGAAGG	0.381													False	0	True	6:151766777	0	TCTAAATGGTTTATAAAAATATTAAAGAGGCATTTCTCATCTG	151766778	-	TCTAAATGGTTTATAAAAATATTAAAGAGGCATTTCTCATCTG	151766777	6	5	62	1	0	1	1	0	0	0	0	0	13475	1841	64	0		0	RMND1	6	151766777	Translation_Start_Site	INS	-	TCGA-HZ-7926-01A-11D-2154-08	1	151766777	19348290	67	5177	89	2									
LPA	4018	broad.mit.edu	37	chr6	161020669	161020670	+	Frame_Shift_Ins	INS	-	-	ATAAGCGAAGGAAGGG													ggtagtagcagtcctgtaccINSccgggggtttcctcagtcag							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:161020669_161020670insATAAGCGAAGGAAGGG	ENST00000316300.5	-	20	3193_3194	c.3149_3150insCCCTTCCTTCGCTTAT	c.(3148-3150)gggfs	p.-1050fs	LPA_ENST00000447678.1_Frame_Shift_Ins_p.-1050fs			P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTCCTGTACCCCGGGGGTTTC	0.436													False	0	True	6:161020669	0	ATAAGCGAAGGAAGGG	161020670	-	ATAAGCGAAGGAAGGG	161020669	7	5	62	1	0	1	1	0	0	0	0	0	8965	610	22	0	3052	0	LPA	6	161020669	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	9253892	161020669	10094398	68	5178											
COL28A1	340267	broad.mit.edu	37	chr7	7398398	7398399	+	Frame_Shift_Ins	INS	-	-	CAATACAAATACAGCACTAT													catcgaaccacatattcaccINSacagtttccaggcttcaagg							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:7398398_7398399insCAATACAAATACAGCACTAT	ENST00000399429.3	-	35	3383_3384	c.3243_3244insATAGTGCTGTATTTGTATTG	c.(3241-3246)tgtggtfs	p.G1082fs		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1082	BPTI/Kunitz inhibitor.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACATATTCACCACAGTTTCCAG	0.391													False	0	False	7:7398398	0	CAATACAAATACAGCACTAT	7398399	-	CAATACAAATACAGCACTAT	7398398	7	5	62	1	0	1	1	0	0	0	0	0	3709	594	21	0	137	0	COL28A1	7	7398398	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08		7398398	151740265	69	5179											
TAX1BP1	8887	broad.mit.edu	37	chr7	27824905	27824906	+	Frame_Shift_Ins	INS	-	-	ATTTGCATATCTTTAAGAAAACTATGTATTC													gtcagtaacacataaagcaaINSttgaaaaagaaaccgaatta							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:27824905_27824906insATTTGCATATCTTTAAGAAAACTATGTATTC	ENST00000396319.2	+	6	824_825	c.736_737insATTTGCATATCTTTAAGAAAACTATGTATTC	c.(736-738)attfs	p.I246fs	TAX1BP1_ENST00000409980.1_Frame_Shift_Ins_p.I246fs|TAX1BP1_ENST00000433216.2_Frame_Shift_Ins_p.I89fs|TAX1BP1_ENST00000265393.6_Frame_Shift_Ins_p.I246fs|TAX1BP1_ENST00000543117.1_Frame_Shift_Ins_p.I246fs	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	246					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ACATAAAGCAATTGAAAAAGAA	0.277													False	0	False	7:27824905	0	ATTTGCATATCTTTAAGAAAACTATGTATTC	27824906	-	ATTTGCATATCTTTAAGAAAACTATGTATTC	27824905	7	5	62	1	0	1	1	0	0	0	0	0	15676	101	4	0	754	0	TAX1BP1	7	27824905	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	20426507	27824905	131313758	70	5180											
CTTNBP2	83992	broad.mit.edu	37	chr7	117351641	117351642	+	Frame_Shift_Ins	INS	-	-	ACAGAAACCAAGGACAACAAGATACAAATACCTTTAAATTGATAAAA													ttgtgtaagttccaattcacINSttcttttgagttgttgttga							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:117351641_117351642insACAGAAACCAAGGACAACAAGATACAAATACCTTTAAATTGATAAAA	ENST00000160373.3	-	23	5032_5033	c.4941_4942insTTTTATCAATTTAAAGGTATTTGTATCTTGTTGTCCTTGGTTTCTGT	c.(4939-4944)gaagtgfs	p.EV1647fs	CFTR_ENST00000429014.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1647										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCCAATTCACTTCTTTTGAGT	0.371													False	0	False	7:117351641	0	ACAGAAACCAAGGACAACAAGATACAAATACCTTTAAATTGATAAAA	117351642	-	ACAGAAACCAAGGACAACAAGATACAAATACCTTTAAATTGATAAAA	117351641	7	5	62	1	0	1	1	0	0	0	0	0	4070	565	20	0	53	0	CTTNBP2	7	117351641	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	89526736	117351641	41787022	71	5181											
RBM28	55131	broad.mit.edu	37	chr7	127963635	127963642	+	Frame_Shift_Del	DEL	GCACGAAT	GCACGAAT	-													cctctgcagccttcgtcccaGcacgaatcactgcagaaaga							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	GCACGAAT	GCACGAAT	-	-	GCACGAAT	GCACGAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:127963635_127963642delGCACGAAT	ENST00000223073.1	-	13	1456_1463	c.1342_1349delATTCGTGC	c.(1342-1350)attcgtgctfs	p.IRA448fs	RBM28_ENST00000415472.2_Frame_Shift_Del_p.IRA307fs	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	448					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTCGTCCCAGCACGAATCACTGCAGAA	0.471													False	1	False	7:127963635	0	-	127963642	GCACGAAT	-	127963635	7	5	62	1	0	1	0	1	0	0	0	0	13207	971	34	0	958	0	RBM28	7	127963635	Frame_Shift_Del	DEL	GCACGAAT	TCGA-HZ-7926-01A-11D-2154-08	10611994	127963635	31175028	72	5182											
OR2A14	135941	broad.mit.edu	37	chr7	143826730	143826732	+	In_Frame_Del	DEL	CTT	CTT	-													gggcctcatgaaatcaaccaCttcttctgtgaaatcctgtc					rs66549240		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:143826730_143826732delCTT	ENST00000408899.2	+	1	580_582	c.525_527delCTT	c.(523-528)cacttc>cac	p.F177del		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	177				Missing (in Ref. 2; AAK95081).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AAATCAACCACTTCTTCTGTGAA	0.562													False	2	False	7:143826730	0	-	143826732	CTT	-	143826730	7	5	62	1	0	1	0	1	0	0	0	0	11044	564	20	0	527	0	OR2A14	7	143826730	In_Frame_Del	DEL	CTT	TCGA-HZ-7926-01A-11D-2154-08	15863095	143826730	15311933	73	5183											
LZTS1	11178	broad.mit.edu	37	chr8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-													agctcattctcacagacctcCagctccaggcccttggtgcg					rs148039718	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENST00000381569.1	-	4	1651_1698	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel	p.RTQDLEGALRTKGLEL432del	LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	432					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACAGACCTCCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCTCAGCTCCAGG	0.657													False	1	True	8:20107683	0	-	20107730	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	20107683	7	5	62	1	0	1	0	1	0	0	0	0	9201	581	21	0	453	0	LZTS1	8	20107683	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	TCGA-HZ-7926-01A-11D-2154-08		20107683	126256339	74	5184											
SDCBP	6386	broad.mit.edu	37	chr8	59488619	59488620	+	Splice_Site	INS	-	-	TTAAC													aggcttaaatcaatagataaINStgtaagtattttaaatacct							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:59488619_59488620insTTAAC	ENST00000523483.1	+	6	1975_1976	c.461_462insTTAAC	c.(460-465)aatggt>aaTTAACtggt	p.G155fs	SDCBP_ENST00000447267.2_Intron|SDCBP_ENST00000424270.2_Splice_Site_p.G129fs|SDCBP_ENST00000447182.2_Splice_Site_p.G134fs|SDCBP_ENST00000413219.2_Splice_Site_p.G135fs|SDCBP_ENST00000260130.4_Splice_Site_p.G135fs|SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000422546.2_Splice_Site_p.G134fs			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	135	PDZ 1.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TCAATAGATAATGTAAGTATTT	0.272													False	0	False	8:59488619	0	TTAAC	59488620	-	TTAAC	59488619	8	5	62	1	0	1	1	0	0	0	1	0	14036	115	4	0	415	0	SDCBP	8	59488619	Splice_Site	INS	-	TCGA-HZ-7926-01A-11D-2154-08	39380936	59488619	86875403	75	5185											
UBR5	51366	broad.mit.edu	37	chr8	103338872	103338873	+	Frame_Shift_Ins	INS	-	-	TAAGCAGTTTTAC													tctaacattttcttcctttgINSactaaaaggaactacacccc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:103338872_103338873insTAAGCAGTTTTAC	ENST00000521922.1	-	13	2006_2007	c.1482_1483insGTAAAACTGCTTA	c.(1480-1485)agtcaafs	p.Q495fs	UBR5_ENST00000220959.4_Frame_Shift_Ins_p.Q501fs|UBR5_ENST00000520539.1_Frame_Shift_Ins_p.Q501fs			O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	501					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCTTCCTTTGACTAAAAGGAA	0.342													False	0	False	8:103338872	0	TAAGCAGTTTTAC	103338873	-	TAAGCAGTTTTAC	103338872	7	5	62	1	0	1	1	0	0	0	0	0	16989	1299	45	0	7086	0	UBR5	8	103338872	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	43850253	103338872	43025150	76	5186											
OXR1	55074	broad.mit.edu	37	chr8	107719418	107719419	+	In_Frame_Ins	INS	-	-	GTTTTCCAAAGT													tagttcatccaattgtatggINStgtctccgtctttcctcact							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:107719418_107719419insGTTTTCCAAAGT	ENST00000497705.1	+	7	1507_1508	c.1468_1469insGTTTTCCAAAGT	c.(1468-1470)gtg>gGTTTTCCAAAGTtg	p.490_490V>GFPKL	OXR1_ENST00000452423.2_Intron|OXR1_ENST00000445937.1_Intron|OXR1_ENST00000312046.6_Intron|OXR1_ENST00000531443.1_Intron|OXR1_ENST00000517566.2_Intron|OXR1_ENST00000442977.2_Intron			Q8N573	OXR1_HUMAN	oxidation resistance 1	0					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CAATTGTATGGTGTCTCCGTCT	0.416													False	0	False	8:107719418	0	GTTTTCCAAAGT	107719419	-	GTTTTCCAAAGT	107719418	7	5	62	1	0	1	1	0	0	0	0	0	11402	1276	44	0		0	OXR1	8	107719418	In_Frame_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	4380546	107719418	38644604	77	5187											
DENND4C	55667	broad.mit.edu	37	chr9	19346636	19346637	+	Frame_Shift_Ins	INS	-	-	CTACTTCTCTTATT													gaaatagaaagctatatgaaINScctaaaaagtcccctaggta							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:19346636_19346637insCTACTTCTCTTATT	ENST00000602925.1	+	22	4138_4139	c.3722_3723insCTACTTCTCTTATT	c.(3721-3726)aacctafs	p.L1242fs	DENND4C_ENST00000307015.9_Frame_Shift_Ins_p.L479fs|DENND4C_ENST00000434457.2_Frame_Shift_Ins_p.L1291fs|DENND4C_ENST00000540671.1_Frame_Shift_Ins_p.L336fs|DENND4C_ENST00000380432.2_Frame_Shift_Ins_p.L1006fs			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1006						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGCTATATGAACCTAAAAAGTC	0.386													False	0	False	9:19346636	0	CTACTTCTCTTATT	19346637	-	CTACTTCTCTTATT	19346636	7	5	62	1	0	1	1	0	0	0	0	0	4465	43	2	0	3084	0	DENND4C	9	19346636	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08		19346636	121866795	78	5188											
CDKN2A	1029	broad.mit.edu	37	chr9	21971003	21971004	+	Frame_Shift_Ins	INS	-	-	A													tcgcgatggcccagctcctcINSagccaggtccacgggcagac							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:21971003_21971004insA	ENST00000479692.2	-	2	215_216	c.201_202insT	c.(199-204)gctgagfs	p.E68fs	CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.E119fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.E119fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000530628.2_Stop_Codon_Ins|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.E68fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Stop_Codon_Ins|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.E119fs|CDKN2A_ENST00000361570.3_Stop_Codon_Ins|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.E119fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	119			A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V.|Missing (in melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCAGCTCCTCAGCCAGGTCCA	0.728		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	1	False	9:21971003	0	A	21971004	-	A	21971003	7	5	62	1	0	1	1	0	0	0	0	0	3184	838	29	0	123	0	CDKN2A	9	21971003	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	2624367	21971003	119242428	79	5189											
NPR2	4882	broad.mit.edu	37	chr9	35806459	35806460	+	In_Frame_Ins	INS	-	-	GCCGAA													tgccaataacttggagaagcINStggtggaggaacgcacacag							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:35806459_35806460insGCCGAA	ENST00000342694.2	+	16	2698_2699	c.2443_2444insGCCGAA	c.(2443-2445)ctg>cGCCGAAtg	p.815_815L>RRM		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	815					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTTGGAGAAGCTGGTGGAGGAA	0.54													False	0	False	9:35806459	0	GCCGAA	35806460	-	GCCGAA	35806459	7	5	62	1	0	1	1	0	0	0	0	0	10663	796	28	0	2505	0	NPR2	9	35806459	In_Frame_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	13835456	35806459	105406972	80	5190											
ASTN2	23245	broad.mit.edu	37	chr9	119903693	119903693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcgatgggcgtgttagcGcggaaactctccttgaactt	11	10	2	1	rs115011238	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:119903693G>A	ENST00000313400.4	-	4	1180	c.1080C>T	c.(1078-1080)cgC>cgT	p.R360R	ASTN2_ENST00000373996.3_Silent_p.R360R|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	360						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCGTGTTAGCGCGGAAACTCT	0.587													False	0	False	9:119903693	0	A	119903693	G	A	119903693	2	1	62	1	0	0	0	0	0	0	0	1	1069	1102	38	1		1	ASTN2	9	119903693	Silent	SNP	G	TCGA-HZ-7926-01A-11D-2154-08	84097234	119903693	21309738	81	5191											
ZBTB34	403341	broad.mit.edu	37	chr9	129642528	129642529	+	Frame_Shift_Ins	INS	-	-	CTCTATCTGA													ctcctatggttctgtgctccINSagcacgcatactcctattcc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:129642528_129642529insCTCTATCTGA	ENST00000319119.4	+	2	935_936	c.850_851insCTCTATCTGA	c.(850-852)cagfs	p.Q284fs	ZBTB34_ENST00000373452.2_Frame_Shift_Ins_p.Q280fs	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						TTCTGTGCTCCAGCACGCATAC	0.53													False	0	False	9:129642528	0	CTCTATCTGA	129642529	-	CTCTATCTGA	129642528	7	5	62	1	0	1	1	0	0	0	0	0	17620	595	21	0	840	0	ZBTB34	9	129642528	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	9738835	129642528	11570903	82	5192											
SETX	23064	broad.mit.edu	37	chr9	135202274	135202275	+	Frame_Shift_Ins	INS	-	-	CG													tcttcatctgctgctttcacINSttcagagtgttttgggcagt							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:135202274_135202275insCG	ENST00000224140.5	-	10	4892_4893	c.4710_4711insCG	c.(4708-4713)gaagtgfs	p.V1571fs	SETX_ENST00000372169.2_Frame_Shift_Ins_p.V1571fs|SETX_ENST00000393220.1_Frame_Shift_Ins_p.V1571fs	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1571					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCTGCTTTCACTTCAGAGTGTT	0.426													False	0	False	9:135202274	0	CG	135202275	-	CG	135202274	7	5	62	1	0	1	1	0	0	0	0	0	14222	565	20	0	3390	0	SETX	9	135202274	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	5559746	135202274	6011157	83	5193	90	2									
SETX	23064	broad.mit.edu	37	chr9	135202275	135202276	+	Frame_Shift_Ins	INS	-	-	CTCTAAAAAATAAG													cttcatctgctgctttcactINStcagagtgttttgggcagta							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:135202275_135202276insCTCTAAAAAATAAG	ENST00000224140.5	-	10	4891_4892	c.4709_4710insCTTATTTTTTAGAG	c.(4708-4710)gaafs	p.E1570fs	SETX_ENST00000372169.2_Frame_Shift_Ins_p.E1570fs|SETX_ENST00000393220.1_Frame_Shift_Ins_p.E1570fs	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1570					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGCTTTCACTTCAGAGTGTTT	0.421													False	0	False	9:135202275	0	CTCTAAAAAATAAG	135202276	-	CTCTAAAAAATAAG	135202275	7	5	62	1	0	1	1	0	0	0	0	0	14222	1606	56	0	3391	0	SETX	9	135202275	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	1	135202275	6011156	84	5194	90	2									
UBAC1	10422	broad.mit.edu	37	chr9	138836942	138836944	+	In_Frame_Del	DEL	CCT	CCT	-													ttccgtcagctcatctctggCctcctcatcggtggcgctgg					rs66767056		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:138836942_138836944delCCT	ENST00000371756.3	-	7	1023_1025	c.806_808delAGG	c.(805-810)gaggcc>gcc	p.E269del	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	269				Missing (in Ref. 1; AAD51084).		Golgi apparatus|plasma membrane	protein binding	p.E269delE(1)|p.E269fs*6(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TCATCTCTGGCCTCCTCATCGGT	0.621													False	2	False	9:138836942	0	-	138836944	CCT	-	138836942	7	5	62	1	0	1	0	1	0	0	0	0	16918	739	26	0	425	0	UBAC1	9	138836942	In_Frame_Del	DEL	CCT	TCGA-HZ-7926-01A-11D-2154-08	3634667	138836942	2376489	85	5195											
MYO3A	53904	broad.mit.edu	37	chr10	26243817	26243817	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aactaggatattgacgaagaGattgaagcagaatataacat	9	4	0	4			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:26243817G>T	ENST00000265944.5	+	4	349	c.183G>T	c.(181-183)gaG>gaT	p.E61D	MYO3A_ENST00000376301.1_Missense_Mutation_p.E61D|MYO3A_ENST00000543632.1_Missense_Mutation_p.E61D|MYO3A_ENST00000376302.1_Missense_Mutation_p.E61D	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	61	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTGACGAAGAGATTGAAGCAG	0.323													False	0	False	10:26243817	0	T	26243817	G	T	26243817	3	4	62	1	0	0	0	0	1	0	0	0	10143	933	33	3	189	3	MYO3A	10	26243817	Missense_Mutation	SNP	G	TCGA-HZ-7926-01A-11D-2154-08		26243817	109290930	86	5196											
GAD2	2572	broad.mit.edu	37	chr10	26589784	26589785	+	In_Frame_Ins	INS	-	-	ATC													gtcagctaccaacccttgggINSagacaaggtcaatttcttcc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:26589784_26589785insATC	ENST00000376261.3	+	16	2155_2156	c.1652_1653insATC	c.(1651-1656)ggagac>ggATCagac	p.551_552GD>GSD	GAD2_ENST00000259271.3_In_Frame_Ins_p.551_552GD>GSD	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	551					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.G551E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CAACCCTTGGGAGACAAGGTCA	0.47													False	0	True	10:26589784	0	ATC	26589785	-	ATC	26589784	7	5	62	1	0	1	1	0	0	0	0	0	6222	1174	41	0	1714	0	GAD2	10	26589784	In_Frame_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	345967	26589784	108944963	87	5197	91	2									
GAD2	2572	broad.mit.edu	37	chr10	26589786	26589787	+	In_Frame_Ins	INS	-	-	AGAATTAGA													cagctaccaacccttgggagINSacaaggtcaatttcttccgc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:26589786_26589787insAGAATTAGA	ENST00000376261.3	+	16	2157_2158	c.1654_1655insAGAATTAGA	c.(1654-1656)gac>gAGAATTAGAac	p.552_552D>EN*N	GAD2_ENST00000259271.3_In_Frame_Ins_p.552_552D>EN*N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	552					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ACCCTTGGGAGACAAGGTCAAT	0.47													False	0	False	10:26589786	0	AGAATTAGA	26589787	-	AGAATTAGA	26589786	7	5	62	1	0	1	1	0	0	0	0	0	6222	942	33	0	1716	0	GAD2	10	26589786	In_Frame_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	2	26589786	108944961	88	5198	91	2									
HK1	3098	broad.mit.edu	37	chr10	71144193	71144194	+	Frame_Shift_Ins	INS	-	-	CTCCAGAC													ggtggaaatgcacaacaagaINStctacgccattcctattgaa							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:71144193_71144194insCTCCAGAC	ENST00000359426.6	+	11	1779_1780	c.1675_1676insCTCCAGAC	c.(1675-1677)atcfs	p.I559fs	HK1_ENST00000298649.3_Frame_Shift_Ins_p.I558fs|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000448642.2_Frame_Shift_Ins_p.I594fs|HK1_ENST00000360289.2_Frame_Shift_Ins_p.I547fs|HK1_ENST00000404387.2_Frame_Shift_Ins_p.I563fs	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	559	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GCACAACAAGATCTACGCCATT	0.505													False	0	False	10:71144193	0	CTCCAGAC	71144194	-	CTCCAGAC	71144193	7	5	62	1	0	1	1	0	0	0	0	0	7237	333	12	0	1895	0	HK1	10	71144193	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	44554407	71144193	64390554	89	5199											
KCNMA1	3778	broad.mit.edu	37	chr10	78647070	78647071	+	Frame_Shift_Ins	INS	-	-	CTTTTTTTTTACACATATTTGCATA													ctgtttgtcccgggactcccINStggacttgggccggttctgt							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:78647070_78647071insCTTTTTTTTTACACATATTTGCATA	ENST00000286627.5	-	27	4442_4443	c.3490_3491insTATGCAAATATGTGTAAAAAAAAAG	c.(3490-3492)aggfs	p.-1163fs	KCNMA1_ENST00000354353.5_Frame_Shift_Ins_p.-1224fs|KCNMA1_ENST00000372440.1_Frame_Shift_Ins_p.-1163fs|KCNMA1_ENST00000406533.3_Frame_Shift_Ins_p.-1225fs|KCNMA1_ENST00000404771.3_Frame_Shift_Ins_p.-1221fs|KCNMA1_ENST00000404857.1_Frame_Shift_Ins_p.-1204fs|KCNMA1_ENST00000286628.8_Frame_Shift_Ins_p.-1221fs|KCNMA1_ENST00000372443.1_Frame_Shift_Ins_p.-1190fs	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.R1164M(2)|p.R1226M(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCGGGACTCCCTGGACTTGGGC	0.554													False	0	True	10:78647070	0	CTTTTTTTTTACACATATTTGCATA	78647071	-	CTTTTTTTTTACACATATTTGCATA	78647070	7	5	62	1	0	1	1	0	0	0	0	0	8123	681	24	0	78	0	KCNMA1	10	78647070	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	7502877	78647070	56887677	90	5200											
PDCD4	27250	broad.mit.edu	37	chr10	112647589	112647590	+	Frame_Shift_Ins	INS	-	-	AAACATTT													gatgtggaaaaatcatttgaINStaaattgttgaaagatctac							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:112647589_112647590insAAACATTT	ENST00000280154.7	+	6	996_997	c.722_723insAAACATTT	c.(721-726)gataaafs	p.DK241fs	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000393104.2_Frame_Shift_Ins_p.DK230fs	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	241	MI 1.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AAATCATTTGATAAATTGTTGA	0.396													False	0	True	10:112647589	0	AAACATTT	112647590	-	AAACATTT	112647589	7	5	62	1	0	1	1	0	0	0	0	0	11689	333	12	0	754	0	PDCD4	10	112647589	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	34000519	112647589	22887158	91	5201											
UBQLN3	50613	broad.mit.edu	37	chr11	5529285	5529285	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtggcagctgtggttGtatctcatcctgtaactgtg	12	9	1	0			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:5529285G>T	ENST00000311659.4	-	2	1651	c.1504C>A	c.(1504-1506)Caa>Aaa	p.Q502K	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	502										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTGTGGTTGTATCTCATCC	0.587													False	0	False	11:5529285	0	T	5529285	G	T	5529285	3	4	62	1	0	0	0	0	1	0	0	0	16982	1386	48	3	467	3	UBQLN3	11	5529285	Missense_Mutation	SNP	G	TCGA-HZ-7926-01A-11D-2154-08		5529285	129477231	92	5202											
GIF	2694	broad.mit.edu	37	chr11	59596985	59596985	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgaaattggctgtgatgTgctcgtggttgaagggtatg	17	3	0	3			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:59596985T>C	ENST00000541311.1	-	9	1385	c.1151A>G	c.(1150-1152)cAc>cGc	p.H384R	GIF_ENST00000257248.2_Missense_Mutation_p.H409R			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	409					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGCTGTGATGTGCTCGTGGTT	0.443													False	0	False	11:59596985	0	C	59596985	T	C	59596985	3	2	62	1	0	0	0	0	1	0	0	0	6421	1696	59	4	31	4	GIF	11	59596985	Missense_Mutation	SNP	T	TCGA-HZ-7926-01A-11D-2154-08	54067700	59596985	75409531	93	5203											
FAT3	120114	broad.mit.edu	37	chr11	92086172	92086173	+	Frame_Shift_Ins	INS	-	-	ATACCTATTCTTTTCATCA													atggagcgaatggagagatcINSgaatctgtttccattgtggc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:92086172_92086173insATACCTATTCTTTTCATCA	ENST00000525166.1	+	1	466_467	c.444_445insATACCTATTCTTTTCATCA	c.(445-447)gaafs	p.E149fs	FAT3_ENST00000298047.6_Frame_Shift_Ins_p.E299fs|FAT3_ENST00000409404.2_Frame_Shift_Ins_p.E299fs|FAT3_ENST00000541502.1_Frame_Shift_Ins_p.E299fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	299	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGGAGAGATCGAATCTGTTTC	0.436										TCGA Ovarian(4;0.039)			False	0	False	11:92086172	0	ATACCTATTCTTTTCATCA	92086173	-	ATACCTATTCTTTTCATCA	92086172	7	5	62	1	0	1	1	0	0	0	0	0	5731	874	31	0	896	0	FAT3	11	92086172	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	32489187	92086172	42920344	94	5204											
MRE11A	4361	broad.mit.edu	37	chr11	94192656	94192657	+	Frame_Shift_Ins	INS	-	-	TTTAACCTCTCTG													ttccaactggtatttcactaINSattcctcaatggcatctttc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:94192656_94192657insTTTAACCTCTCTG	ENST00000323929.3	-	13	1639_1640	c.1417_1418insCAGAGAGGTTAAA	c.(1417-1419)ttafs	p.L473fs	MRE11A_ENST00000407439.3_Frame_Shift_Ins_p.L476fs|MRE11A_ENST00000323977.3_Frame_Shift_Ins_p.L473fs|MRE11A_ENST00000393241.4_Frame_Shift_Ins_p.L473fs	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	473					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GTATTTCACTAATTCCTCAATG	0.401								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				False	0	False	11:94192656	0	TTTAACCTCTCTG	94192657	-	TTTAACCTCTCTG	94192656	7	5	62	1	0	1	1	0	0	0	0	0	9826	372	13	0	740	0	MRE11A	11	94192656	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	2106484	94192656	40813860	95	5205											
SIK3	23387	broad.mit.edu	37	chr11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-													ggtattcttgctgttgctgcTgttgctgctgctgctgccgt					rs539858	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596													False	1	True	11:116729011	0	-	116729013	TGT	-	116729011	7	5	62	1	0	1	0	1	0	0	0	0	14400	1580	55	0	955	0	SIK3	11	116729011	In_Frame_Del	DEL	TGT	TCGA-HZ-7926-01A-11D-2154-08	22536355	116729011	18277505	96	5206											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	62	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-7926-01A-11D-2154-08		25398284	108453611	97	5207											
SLC38A1	81539	broad.mit.edu	37	chr12	46591599	46591600	+	Splice_Site	INS	-	-	TTTCTGATTAGTTTTCCATTTAAATTTA													gcatgttagcagatgtaactINScctgtaaaataagacaaaag							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:46591599_46591600insTTTCTGATTAGTTTTCCATTTAAATTTA	ENST00000552197.1	-	16	1949_1950	c.1265_1266insTAAATTTAAATGGAAAACTAATCAGAAA	c.(1264-1266)gga>ggTAAATTTAAATGGAAAACTAATCAGAAAa	p.-422fs	SLC38A1_ENST00000439706.1_Splice_Site_p.-422fs|SLC38A1_ENST00000549049.1_Splice_Site_p.-422fs|SLC38A1_ENST00000546893.1_Splice_Site_p.-422fs|SLC38A1_ENST00000398637.5_Splice_Site_p.-422fs	NM_001278390.1	NP_001265319.1	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1						cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CAGATGTAACTCCTGTAAAATA	0.342													False	0	False	12:46591599	0	TTTCTGATTAGTTTTCCATTTAAATTTA	46591600	-	TTTCTGATTAGTTTTCCATTTAAATTTA	46591599	8	5	62	1	0	1	1	0	0	0	1	0	14681	1565	54	0	205	0	SLC38A1	12	46591599	Splice_Site	INS	-	TCGA-HZ-7926-01A-11D-2154-08	21193315	46591599	87260296	98	5208											
OSBPL8	114882	broad.mit.edu	37	chr12	76783492	76783493	+	Frame_Shift_Ins	INS	-	-	C													aaagaacggggttccaaaatINSaaatgtaggcagaaccacct							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:76783492_76783493insC	ENST00000261183.3	-	12	1763_1764	c.1284_1285insG	c.(1282-1287)tttattfs	p.I429fs	OSBPL8_ENST00000393250.4_Frame_Shift_Ins_p.I387fs|OSBPL8_ENST00000393249.2_Frame_Shift_Ins_p.I387fs	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	429					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GGTTCCAAAATAAATGTAGGCA	0.366													False	0	True	12:76783492	0	C	76783493	-	C	76783492	7	5	62	1	0	1	1	0	0	0	0	0	11351	1406	49	0	1436	0	OSBPL8	12	76783492	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	30191893	76783492	57068403	99	5209	92	2									
OSBPL8	114882	broad.mit.edu	37	chr12	76783493	76783494	+	In_Frame_Ins	INS	-	-	GGCTCT													aagaacggggttccaaaataINSaatgtaggcagaaccacctt							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:76783493_76783494insGGCTCT	ENST00000261183.3	-	12	1762_1763	c.1283_1284insAGAGCC	c.(1282-1284)ttt>ttAGAGCCt	p.428_428F>LEP	OSBPL8_ENST00000393250.4_In_Frame_Ins_p.386_386F>LEP|OSBPL8_ENST00000393249.2_In_Frame_Ins_p.386_386F>LEP	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	428					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GTTCCAAAATAAATGTAGGCAG	0.371													False	0	True	12:76783493	0	GGCTCT	76783494	-	GGCTCT	76783493	7	5	62	1	0	1	1	0	0	0	0	0	11351	359	13	0	1437	0	OSBPL8	12	76783493	In_Frame_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	1	76783493	57068402	100	5210	92	2									
CHST11	50515	broad.mit.edu	37	chr12	105150940	105150940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcatgatggtcctgaccGggcgggggaagtacagcgac	17	10	1	2			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:105150940G>A	ENST00000303694.5	+	3	857	c.418G>A	c.(418-420)Ggg>Agg	p.G140R	CHST11_ENST00000549260.1_Missense_Mutation_p.G135R	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	140					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GGTCCTGACCGGGCGGGGGAA	0.597													False	0	True	12:105150940	0	A	105150940	G	A	105150940	3	1	62	1	0	0	0	0	1	0	0	0	3422	1116	39	1	428	1	CHST11	12	105150940	Missense_Mutation	SNP	G	TCGA-HZ-7926-01A-11D-2154-08	28367447	105150940	28700955	101	5211											
SBNO1	55206	broad.mit.edu	37	chr12	123834966	123834967	+	In_Frame_Ins	INS	-	-	TTTTTTTTT													actcaaagcagcaagcagtaINSaatcttgccctggctccacc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:123834966_123834967insTTTTTTTTT	ENST00000602750.1	-	2	164_165	c.22_23insAAAAAAAAA	c.(22-24)tta>tAAAAAAAAAta	p.8_8L>*KKI	SBNO1_ENST00000420886.2_In_Frame_Ins_p.8_8L>*KKI|SBNO1_ENST00000602398.1_In_Frame_Ins_p.8_8L>*KKI|SBNO1_ENST00000267176.4_In_Frame_Ins_p.8_8L>*KKI			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	8							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGCAAGCAGTAAATCTTGCCCT	0.391													False	0	True	12:123834966	0	TTTTTTTTT	123834967	-	TTTTTTTTT	123834966	7	5	62	1	0	1	1	0	0	0	0	0	13942	372	13	0	4282	0	SBNO1	12	123834966	In_Frame_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	18684026	123834966	10016929	102	5212	93	2									
SBNO1	55206	broad.mit.edu	37	chr12	123834968	123834969	+	Frame_Shift_Ins	INS	-	-	GATAG													tcaaagcagcaagcagtaaaINStcttgccctggctccaccat							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:123834968_123834969insGATAG	ENST00000602750.1	-	2	162_163	c.20_21insCTATC	c.(19-21)gatfs	p.-7fs	SBNO1_ENST00000420886.2_Frame_Shift_Ins_p.-7fs|SBNO1_ENST00000602398.1_Frame_Shift_Ins_p.-7fs|SBNO1_ENST00000267176.4_Frame_Shift_Ins_p.-7fs			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)								ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAAGCAGTAAATCTTGCCCTGG	0.386													False	0	True	12:123834968	0	GATAG	123834969	-	GATAG	123834968	7	5	62	1	0	1	1	0	0	0	0	0	13942	98	4	0	4284	0	SBNO1	12	123834968	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	2	123834968	10016927	103	5213	93	2									
PABPC3	5042	broad.mit.edu	37	chr13	25671664	25671664	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacctcatccattccaaaAtaagcccagtgctatccgcc	5	16	1	1			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:25671664A>C	ENST00000281589.3	+	1	1365	c.1328A>C	c.(1327-1329)aAt>aCt	p.N443T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	443					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCATTCCAAAATAAGCCCAGT	0.507													False	0	True	13:25671664	0	C	25671664	A	C	25671664	3	2	62	1	0	0	0	0	1	0	0	0	11433	101	4	4	1330	4	PABPC3	13	25671664	Missense_Mutation	SNP	A	TCGA-HZ-7926-01A-11D-2154-08		25671664	89498214	104	5214											
FLT3	2322	broad.mit.edu	37	chr13	28622533	28622533	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaaaactcttcatattggtCaatttcataatcttcacttg	3	9	6	0			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:28622533C>T	ENST00000380982.4	-	9	1165	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	FLT3_ENST00000537084.1_Missense_Mutation_p.D362N|FLT3_ENST00000241453.7_Missense_Mutation_p.D362N			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	362					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCATATTGGTCAATTTCATAA	0.323			"Mis, O"		"AML, ALL"								False	0	False	13:28622533	0	T	28622533	C	T	28622533	3	4	62	1	0	0	0	0	1	0	0	0	5982	826	29	2	1961	2	FLT3	13	28622533	Missense_Mutation	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	2950869	28622533	86547345	105	5215											
HSPH1	10808	broad.mit.edu	37	chr13	31722231	31722232	+	Splice_Site	INS	-	-	CATTGTACAAACTTTA													ctaaagacttcatgaacactINSagagagaaaagaaaaaggca							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:31722231_31722232insCATTGTACAAACTTTA	ENST00000380406.5	-	9	1458		c.e9-2		HSPH1_ENST00000429785.2_Splice_Site|HSPH1_ENST00000445273.2_Splice_Site|HSPH1_ENST00000320027.5_Splice_Site|HSPH1_ENST00000380405.4_Splice_Site			Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1						positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TCATGAACACTAGAGAGAAAAG	0.376													False	0	True	13:31722231	0	CATTGTACAAACTTTA	31722232	-	CATTGTACAAACTTTA	31722231	8	5	62	1	0	1	1	0	0	0	1	0	7481	1536	53	0	1369	0	HSPH1	13	31722231	Splice_Site	INS	-	TCGA-HZ-7926-01A-11D-2154-08	3099698	31722231	83447647	106	5216											
PDS5B	23047	broad.mit.edu	37	chr13	33316778	33316779	+	In_Frame_Ins	INS	-	-	AATGTATTTAATGGATGCTTTTTAAGAAAAGAAAAAATTCTT													ctacttggaatgaaaaataaINStcacagtaaatcaggaactt							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:33316778_33316779insAATGTATTTAATGGATGCTTTTTAAGAAAAGAAAAAATTCTT	ENST00000315596.10	+	23	2711_2712	c.2525_2526insAATGTATTTAATGGATGCTTTTTAAGAAAAGAAAAAATTCTT	c.(2524-2529)aatcac>aaAATGTATTTAATGGATGCTTTTTAAGAAAAGAAAAAATTCTTtcac	p.842_842N>KMYLMDAF*EKKKFF		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	842					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ATGAAAAATAATCACAGTAAAT	0.332													False	0	False	13:33316778	0	AATGTATTTAATGGATGCTTTTTAAGAAAAGAAAAAATTCTT	33316779	-	AATGTATTTAATGGATGCTTTTTAAGAAAAGAAAAAATTCTT	33316778	7	5	62	1	0	1	1	0	0	0	0	0	11760	101	4	0	2611	0	PDS5B	13	33316778	In_Frame_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	1594547	33316778	81853100	107	5217											
IPO5	3843	broad.mit.edu	37	chr13	98658599	98658600	+	Frame_Shift_Ins	INS	-	-	GACAC													gtctggctgttgggaaggaaINSaaagtaagtaattttttttt							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:98658599_98658600insGACAC	ENST00000261574.5	+	17	1947_1948	c.1767_1768insGACAC	c.(1768-1770)aaafs	p.K590fs	IPO5_ENST00000490680.1_Frame_Shift_Ins_p.K572fs|IPO5_ENST00000539640.1_Frame_Shift_Ins_p.K447fs|IPO5_ENST00000493492.2_3'UTR	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	572					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTGGGAAGGAAAAAGTAAGTAA	0.391													False	0	True	13:98658599	0	GACAC	98658600	-	GACAC	98658599	7	5	62	1	0	1	1	0	0	0	0	0	7846	11	1	0	1825	0	IPO5	13	98658599	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	65341821	98658599	16511279	108	5218											
TEP1	7011	broad.mit.edu	37	chr14	20850875	20850876	+	Splice_Site	INS	-	-	CCTATCCCACGTCCT													tcaccagcagcagtcgcatcINStggcaagactcaggactcag							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:20850875_20850876insCCTATCCCACGTCCT	ENST00000556935.1	-	26	3763		c.e26-1		TEP1_ENST00000262715.5_Splice_Site			Q99973	TEP1_HUMAN	telomerase-associated protein 1						telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCAGTCGCATCTGGCAAGACTC	0.649													False	0	False	14:20850875	0	CCTATCCCACGTCCT	20850876	-	CCTATCCCACGTCCT	20850875	8	5	62	1	0	1	1	0	0	0	1	0	15841	927	32	0	3948	0	TEP1	14	20850875	Splice_Site	INS	-	TCGA-HZ-7926-01A-11D-2154-08		20850875	86498665	109	5219											
ATL1	51062	broad.mit.edu	37	chr14	51094836	51094836	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaatctgtgaagctattcCgaggggtgaagaagatgggt	15	4	1	5			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:51094836C>T	ENST00000441560.2	+	13	1688	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	ATL1_ENST00000354525.4_Nonsense_Mutation_p.R403*|ATL1_ENST00000358385.6_Nonsense_Mutation_p.R403*|ATL1_ENST00000357032.3_Nonsense_Mutation_p.R403*	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	403					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						GAAGCTATTCCGAGGGGTGAA	0.443													False	0	False	14:51094836	0	T	51094836	C	T	51094836	4	4	62	1	0	0	0	0	0	1	0	0	1110	644	23	1	1253	1	ATL1	14	51094836	Nonsense_Mutation	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	30243961	51094836	56254704	110	5220											
DAAM1	23002	broad.mit.edu	37	chr14	59822036	59822037	+	Frame_Shift_Ins	INS	-	-	ACAC													aacaaaattgctgacacaaaINSatccagcatcgacaagtaag							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:59822036_59822037insACAC	ENST00000395125.1	+	20	2563_2564	c.2540_2541insACAC	c.(2539-2544)aaatccfs	p.S848fs	DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.S848fs|DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.S838fs|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	848	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GCTGACACAAAATCCAGCATCG	0.436													False	0	True	14:59822036	0	ACAC	59822037	-	ACAC	59822036	7	5	62	1	0	1	1	0	0	0	0	0	4240	14	1	0	2618	0	DAAM1	14	59822036	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	8727200	59822036	47527504	111	5221	94	2									
DAAM1	23002	broad.mit.edu	37	chr14	59822038	59822039	+	Frame_Shift_Ins	INS	-	-	AAAAACATGATTA													caaaattgctgacacaaaatINSccagcatcgacaagtaagta							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:59822038_59822039insAAAAACATGATTA	ENST00000395125.1	+	20	2565_2566	c.2542_2543insAAAAACATGATTA	c.(2542-2544)tccfs	p.S848fs	DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.S848fs|DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.S838fs|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	848	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGACACAAAATCCAGCATCGAC	0.436													False	0	False	14:59822038	0	AAAAACATGATTA	59822039	-	AAAAACATGATTA	59822038	7	5	62	1	0	1	1	0	0	0	0	0	4240	1435	50	0	2620	0	DAAM1	14	59822038	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	2	59822038	47527502	112	5222	94	2									
KCNK13	56659	broad.mit.edu	37	chr14	90650874	90650874	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagccagaacgcccactatGagagccaaggcctctatcgc	10	15	1	2			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:90650874G>T	ENST00000282146.4	+	2	1195	c.754G>T	c.(754-756)Gag>Tag	p.E252*		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	252						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CGCCCACTATGAGAGCCAAGG	0.493													False	0	False	14:90650874	0	T	90650874	G	T	90650874	4	4	62	1	0	0	0	0	0	1	0	0	8111	1291	45	3	760	3	KCNK13	14	90650874	Nonsense_Mutation	SNP	G	TCGA-HZ-7926-01A-11D-2154-08	30828836	90650874	16698666	113	5223											
TTC7B	145567	broad.mit.edu	37	chr14	91196540	91196541	+	Splice_Site	INS	-	-	AATG													tgaatattagaaagtattacINSctagaaggggagaaaattgg							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:91196540_91196541insAATG	ENST00000328459.6	-	5	698	c.577_577insCATT	c.(577-579)gta>CATTgta	p.V193fs	TTC7B_ENST00000357056.2_Splice_Site_p.V193fs	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	193							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GAAAGTATTACCTAGAAGGGGA	0.421													False	0	False	14:91196540	0	AATG	91196541	-	AATG	91196540	8	5	62	1	0	1	1	0	0	0	1	0	16797	521	18	0	2018	0	TTC7B	14	91196540	Splice_Site	INS	-	TCGA-HZ-7926-01A-11D-2154-08	545666	91196540	16153000	114	5224	95	2									
TTC7B	145567	broad.mit.edu	37	chr14	91196541	91196542	+	Splice_Site	INS	-	-	TGTCTCCAGTTTAGTTATTATAA													gaatattagaaagtattaccINStagaaggggagaaaattgga							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:91196541_91196542insTGTCTCCAGTTTAGTTATTATAA	ENST00000328459.6	-	5	698		c.e5-1		TTC7B_ENST00000357056.2_Splice_Site	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B								binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				AAAGTATTACCTAGAAGGGGAG	0.426													False	0	False	14:91196541	0	TGTCTCCAGTTTAGTTATTATAA	91196542	-	TGTCTCCAGTTTAGTTATTATAA	91196541	8	5	62	1	0	1	1	0	0	0	1	0	16797	695	24	0	2019	0	TTC7B	14	91196541	Splice_Site	INS	-	TCGA-HZ-7926-01A-11D-2154-08	1	91196541	16152999	115	5225	95	2									
SERINC4	619189	broad.mit.edu	37	chr15	44087392	44087393	+	Frame_Shift_Ins	INS	-	-	A													cccttgatgaaggtcttttcINScagttctgctccctcatagc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:44087392_44087393insA	ENST00000299969.6	-	10	1284_1285	c.1139_1140insT	c.(1138-1140)tggfs	p.W380fs	RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000594896.1_Intron|SERINC4_ENST00000319327.6_Frame_Shift_Ins_p.E455fs|SERINC4_ENST00000249714.3_Frame_Shift_Ins_p.E211fs			A6NH21	SERC4_HUMAN	serine incorporator 4	0					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		AAGGTCTTTTCCAGTTCTGCTC	0.505													False	0	False	15:44087392	0	A	44087393	-	A	44087392	7	5	62	1	0	1	1	0	0	0	0	0	14163	864	30	0	197	0	SERINC4	15	44087392	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08		44087392	58444000	116	5226	96	2									
SERINC4	619189	broad.mit.edu	37	chr15	44087394	44087395	+	Frame_Shift_Ins	INS	-	-	AACT													cttgatgaaggtcttttccaINSgttctgctccctcatagctg							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:44087394_44087395insAACT	ENST00000299969.6	-	10	1282_1283	c.1137_1138insAGTT	c.(1135-1140)aactggfs	p.W380fs	RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000594896.1_Intron|SERINC4_ENST00000319327.6_Frame_Shift_Ins_p.L454fs|SERINC4_ENST00000249714.3_Frame_Shift_Ins_p.L210fs			A6NH21	SERC4_HUMAN	serine incorporator 4	0					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		GGTCTTTTCCAGTTCTGCTCCC	0.505													False	0	False	15:44087394	0	AACT	44087395	-	AACT	44087394	7	5	62	1	0	1	1	0	0	0	0	0	14163	188	7	0	199	0	SERINC4	15	44087394	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	2	44087394	58443998	117	5227	96	2									
HERC1	8925	broad.mit.edu	37	chr15	64021813	64021814	+	Frame_Shift_Ins	INS	-	-	GGAACTTTTT													atgttccaagtagaaatttaINStcactattcttttctagctc							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:64021813_64021814insGGAACTTTTT	ENST00000443617.2	-	15	2990_2991	c.2903_2904insAAAAAGTTCC	c.(2902-2904)gatfs	p.D968fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	968					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTAGAAATTTATCACTATTCTT	0.366													False	0	False	15:64021813	0	GGAACTTTTT	64021814	-	GGAACTTTTT	64021813	7	5	62	1	0	1	1	0	0	0	0	0	7104	446	16	0	11937	0	HERC1	15	64021813	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	19934419	64021813	38509579	118	5228											
CCDC33	80125	broad.mit.edu	37	chr15	74536401	74536403	+	In_Frame_Del	DEL	AAG	AAG	-													tcggtcacctgtctccctctAagaaggagaccatcatggtc					rs74360605		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:74536401_74536403delAAG	ENST00000398814.3	+	2	528_530	c.97_99delAAG	c.(97-99)aagdel	p.K34del	CCDC33_ENST00000321288.5_In_Frame_Del_p.K237del	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	237							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCTCCCTCTAAGAAGGAGACCA	0.606													False	2	False	15:74536401	0	-	74536403	AAG	-	74536401	7	5	62	1	0	1	0	1	0	0	0	0	2827	363	13	0	103	0	CCDC33	15	74536401	In_Frame_Del	DEL	AAG	TCGA-HZ-7926-01A-11D-2154-08	10514588	74536401	27994991	119	5229											
CSK	1445	broad.mit.edu	37	chr15	75091650	75091650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacacgggagcaggctgagCggcttctgtacccgccggag	15	13	2	1			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:75091650C>T	ENST00000220003.9	+	5	1009	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CSK_ENST00000309470.9_Missense_Mutation_p.R94W|CSK_ENST00000567571.1_Missense_Mutation_p.R94W|CSK_ENST00000439220.2_Missense_Mutation_p.R94W	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	94	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GCAGGCTGAGCGGCTTCTGTA	0.637													False	0	False	15:75091650	0	T	75091650	C	T	75091650	3	4	62	1	0	0	0	0	1	0	0	0	3968	759	27	1	294	1	CSK	15	75091650	Missense_Mutation	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	555249	75091650	27439742	120	5230											
AKAP13	11214	broad.mit.edu	37	chr15	86064742	86064743	+	Frame_Shift_Ins	INS	-	-	TCTTCGCAGCCTATCTTTATCAA													acttggtatttttgggttccINSaccctccgtcactgtacaag							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:86064742_86064743insTCTTCGCAGCCTATCTTTATCAA	ENST00000394518.2	+	3	212_213	c.117_118insTCTTCGCAGCCTATCTTTATCAA	c.(118-120)accfs	p.T40fs	AKAP13_ENST00000560302.1_Frame_Shift_Ins_p.T40fs|AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.T40fs	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	40					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTTTGGGTTCCACCCTCCGTCA	0.426													False	0	True	15:86064742	0	TCTTCGCAGCCTATCTTTATCAA	86064743	-	TCTTCGCAGCCTATCTTTATCAA	86064742	7	5	62	1	0	1	1	0	0	0	0	0	449	581	21	0	123	0	AKAP13	15	86064742	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	10973092	86064742	16466650	121	5231	97	2									
AKAP13	11214	broad.mit.edu	37	chr15	86064744	86064745	+	Frame_Shift_Ins	INS	-	-	AT													ttggtatttttgggttccacINScctccgtcactgtacaagta							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:86064744_86064745insAT	ENST00000394518.2	+	3	214_215	c.119_120insAT	c.(118-123)accctcfs	p.L41fs	AKAP13_ENST00000560302.1_Frame_Shift_Ins_p.L41fs|AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.L41fs	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	41					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTGGGTTCCACCCTCCGTCACT	0.431													False	0	True	15:86064744	0	AT	86064745	-	AT	86064744	7	5	62	1	0	1	1	0	0	0	0	0	449	507	18	0	125	0	AKAP13	15	86064744	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	2	86064744	16466648	122	5232	97	2									
TSC2	7249	broad.mit.edu	37	chr16	2137908	2137908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtcaccccgctggactaCgagtgcaacctggtgtccct	10	15	1	0	rs45467993		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:2137908C>T	ENST00000219476.3	+	39	5664	c.5034C>T	c.(5032-5034)taC>taT	p.Y1678Y	TSC2_ENST00000401874.2_Silent_p.Y1611Y|TSC2_ENST00000568454.1_Silent_p.Y1622Y|TSC2_ENST00000382538.6_Silent_p.Y1563Y|TSC2_ENST00000353929.4_Silent_p.Y1635Y|TSC2_ENST00000350773.4_Silent_p.Y1655Y|TSC2_ENST00000439673.2_Silent_p.Y1575Y	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1678	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGCTGGACTACGAGTGCAACC	0.642			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				False	0	False	16:2137908	0	T	2137908	C	T	2137908	2	4	62	1	0	0	0	0	0	0	0	1	16689	547	19	1		1	TSC2	16	2137908	Silent	SNP	C	TCGA-HZ-7926-01A-11D-2154-08		2137908	88216845	123	5233											
ZNF75A	7627	broad.mit.edu	37	chr16	3367798	3367798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacaggtgagcagccatatActtgtagcatatgcaggaga	11	8	0	2			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:3367798A>G	ENST00000574298.1	+	6	1293	c.820A>G	c.(820-822)Act>Gct	p.T274A	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						GCAGCCATATACTTGTAGCAT	0.463													False	0	False	16:3367798	0	G	3367798	A	G	3367798	3	3	62	1	0	0	0	0	1	0	0	0	18215	391	14	4	830	4	ZNF75A	16	3367798	Missense_Mutation	SNP	A	TCGA-HZ-7926-01A-11D-2154-08	1229890	3367798	86986955	124	5234											
ARHGAP17	55114	broad.mit.edu	37	chr16	24942223	24942224	+	Frame_Shift_Ins	INS	-	-	ACTACATTTTATTTAA													ggttccttggctttggtactINSggtctcggtctcggtaaggt							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:24942223_24942224insACTACATTTTATTTAA	ENST00000289968.6	-	19	2465_2466	c.2396_2397insTTAAATAAAATGTAGT	c.(2395-2397)ccafs	p.-799fs	ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.-721fs|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCTTTGGTACTGGTCTCGGTCT	0.614													False	0	False	16:24942223	0	ACTACATTTTATTTAA	24942224	-	ACTACATTTTATTTAA	24942223	7	5	62	1	0	1	1	0	0	0	0	0	869	1567	55	0	256	0	ARHGAP17	16	24942223	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08	21574425	24942223	65412530	125	5235											
OR1E1	8387	broad.mit.edu	37	chr17	3301042	3301043	+	Frame_Shift_Ins	INS	-	-	TGAAGGG													ccttgaggatggaggagacaINSattcttgcataggacccaag							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:3301042_3301043insTGAAGGG	ENST00000322608.2	-	1	661_662	c.662_663insCCCTTCA	c.(661-663)attfs	p.-221fs		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						TGGAGGAGACAATTCTTGCATA	0.485													False	0	False	17:3301042	0	TGAAGGG	3301043	-	TGAAGGG	3301042	7	5	62	1	0	1	1	0	0	0	0	0	11022	126	5	0	285	0	OR1E1	17	3301042	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08		3301042	77894168	126	5236											
MED1	5469	broad.mit.edu	37	chr17	37565585	37565585	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgagtcttttctttcccTaagtccccagtggtcagtaa	7	10	3	1			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:37565585T>G	ENST00000300651.6	-	17	3112	c.2889A>C	c.(2887-2889)ttA>ttC	p.L963F	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	963	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTCTTTCCCTAAGTCCCCAG	0.483										HNSCC(31;0.082)			False	0	True	17:37565585	0	G	37565585	T	G	37565585	3	3	62	1	0	0	0	0	1	0	0	0	9492	1519	53	4	1860	4	MED1	17	37565585	Missense_Mutation	SNP	T	TCGA-HZ-7926-01A-11D-2154-08	34264543	37565585	43629625	127	5237											
CDC27	996	broad.mit.edu	37	chr17	45214727	45214728	+	Splice_Site	INS	-	-	TCTGGAGGATTT													tccctgcagcacaccaggccINSttaaaaaaatgggaacaaaa							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:45214727_45214728insTCTGGAGGATTT	ENST00000066544.3	-	14	1798		c.e14-1		CDC27_ENST00000446365.2_Splice_Site|CDC27_ENST00000531206.1_Splice_Site|CDC27_ENST00000527547.1_Splice_Site	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CACACCAGGCCTTAAAAAAATG	0.351													False	0	False	17:45214727	0	TCTGGAGGATTT	45214728	-	TCTGGAGGATTT	45214727	8	5	62	1	0	1	1	0	0	0	1	0	3089	695	24	0	794	0	CDC27	17	45214727	Splice_Site	INS	-	TCGA-HZ-7926-01A-11D-2154-08	7649142	45214727	35980483	128	5238											
PDE6G	5148	broad.mit.edu	37	chr17	79620348	79620348	+	Frame_Shift_Del	DEL	G	G	-													aggttcatggtgaggctgacGgagacaccgcggcaaccttg					rs60243881		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:79620348delG	ENST00000573076.1	-	2	613	c.138delC	c.(136-138)tccfs	p.S46fs	PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000331056.5_5'UTR|PDE6G_ENST00000571004.1_5'UTR|PDE6G_ENST00000571224.1_5'UTR			P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	0					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGAGGCTGACGGAGACACCGC	0.667													False	2	False	17:79620348	0	-	79620348	G	-	79620348	7	5	62	1	0	1	0	1	0	0	0	0	11717	1131	39	0		0	PDE6G	17	79620348	Frame_Shift_Del	DEL	G	TCGA-HZ-7926-01A-11D-2154-08	34405621	79620348	1574862	129	5239											
PLIN4	729359	broad.mit.edu	37	chr19	4511376	4511377	+	Frame_Shift_Del	DEL	CA	CA	-													agcaccggtcaccccactgcCaagggtgttctttgtacctg					rs71263980		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:4511376_4511377delCA	ENST00000301286.3	-	3	2552_2553	c.2553_2554delTG	c.(2551-2556)cttggcfs	p.G852fs		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	852	27 X 33 AA approximate tandem repeat.			NTLG -> DTVC (in Ref. 2; BAB67774).		lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACCCCACTGCCAAGGGTGTTCT	0.584													False	1	False	19:4511376	0	-	4511377	CA	-	4511376	7	5	62	1	0	1	0	1	0	0	0	0	12161	594	21	0	1535	0	PLIN4	19	4511376	Frame_Shift_Del	DEL	CA	TCGA-HZ-7926-01A-11D-2154-08		4511376	54617607	130	5240											
ZNF358	140467	broad.mit.edu	37	chr19	7585344	7585370	+	In_Frame_Del	DEL	GCCGCGGCCGCTGCAGCTGCAGCAGCG	GCCGCGGCCGCTGCAGCTGCAGCAGCG	-													gtgcagccgctgctgcagctGccgcggccgctgcagctgca					rs71752719		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	GCCGCGGCCGCTGCAGCTGCAGCAGCG	GCCGCGGCCGCTGCAGCTGCAGCAGCG	-	-	GCCGCGGCCGCTGCAGCTGCAGCAGCG	GCCGCGGCCGCTGCAGCTGCAGCAGCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:7585344_7585370delGCCGCGGCCGCTGCAGCTGCAGCAGCG	ENST00000597229.1	+	2	1386_1412	c.1216_1242delGCCGCGGCCGCTGCAGCTGCAGCAGCG	c.(1216-1242)gccgcggccgctgcagctgcagcagcgdel	p.AAAAAAAAA406del	ZNF358_ENST00000394341.2_In_Frame_Del_p.AAAAAAAAA406del|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	406	Poly-Ala.				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						tgctgcagctgccgcggccgctgcagctgcagcagcggccgccgGCC	0.692													False	1	True	19:7585344	0	-	7585370	GCCGCGGCCGCTGCAGCTGCAGCAGCG	-	7585344	7	5	62	1	0	1	0	1	0	0	0	0	17950	1319	46	0	1218	0	ZNF358	19	7585344	In_Frame_Del	DEL	GCCGCGGCCGCTGCAGCTGCAGCAGCG	TCGA-HZ-7926-01A-11D-2154-08	3073968	7585344	51543639	131	5241											
CLEC4M	10332	broad.mit.edu	37	chr19	7833838	7833838	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacgttgacaattactggatCtgcaaaaagcccgcagcctg	10	11	1	1			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:7833838C>A	ENST00000327325.5	+	7	1282	c.1164C>A	c.(1162-1164)atC>atA	p.I388I	CLEC4M_ENST00000596707.1_Silent_p.I321I|CLEC4M_ENST00000394122.2_Silent_p.I376I|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000248228.4_Silent_p.I366I|CLEC4M_ENST00000334806.5_Silent_p.I337I|CLEC4M_ENST00000595496.1_Silent_p.I252I|CLEC4M_ENST00000359059.5_Silent_p.I321I|CLEC4M_ENST00000596363.1_3'UTR	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	388	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ATTACTGGATCTGCAAAAAGC	0.498													False	0	False	19:7833838	0	A	7833838	C	A	7833838	2	1	62	1	0	0	0	0	0	0	0	1	3541	903	32	3		3	CLEC4M	19	7833838	Silent	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	248494	7833838	51295145	132	5242											
TRMT1	55621	broad.mit.edu	37	chr19	13227177	13227177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagagcacccgggcggagcGgaaagtgaggcttagccaca	16	10	0	2			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:13227177G>A	ENST00000592062.1	-	3	607	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000221504.8_Missense_Mutation_p.R13C|TRMT1_ENST00000437766.1_Missense_Mutation_p.R13C|TRMT1_ENST00000357720.4_Missense_Mutation_p.R13C			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	13							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CGGGCGGAGCGGAAAGTGAGG	0.657													False	0	True	19:13227177	0	A	13227177	G	A	13227177	3	1	62	1	0	0	0	0	1	0	0	0	16644	1116	39	1	2006	1	TRMT1	19	13227177	Missense_Mutation	SNP	G	TCGA-HZ-7926-01A-11D-2154-08	5393339	13227177	45901806	133	5243											
CABP5	56344	broad.mit.edu	37	chr19	48537514	48537514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccattaacatcagcctcccGgacaacctcagagatctccc	5	17	3	1			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:48537514G>A	ENST00000293255.2	-	5	584	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	152	EF-hand 4.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TCAGCCTCCCGGACAACCTCA	0.617													False	0	True	19:48537514	0	A	48537514	G	A	48537514	3	1	62	1	0	0	0	0	1	0	0	0	2554	1115	39	1	75	1	CABP5	19	48537514	Missense_Mutation	SNP	G	TCGA-HZ-7926-01A-11D-2154-08	35310337	48537514	10591469	134	5244											
ZSCAN1	284312	broad.mit.edu	37	chr19	58549468	58549468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggagcagttcctgggCgcgctgcccagcaagatgcg	16	12	0	1			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:58549468C>T	ENST00000282326.1	+	3	511	c.264C>T	c.(262-264)ggC>ggT	p.G88G	ZSCAN1_ENST00000601162.1_Silent_p.G88G|ZSCAN1_ENST00000391700.1_Silent_p.G88G	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	88	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGTTCCTGGGCGCGCTGCCCA	0.697													False	0	True	19:58549468	0	T	58549468	C	T	58549468	2	4	62	1	0	0	0	0	0	0	0	1	18308	755	27	1		1	ZSCAN1	19	58549468	Silent	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	10011954	58549468	579515	135	5245											
FOXS1	2307	broad.mit.edu	37	chr20	30432695	30432695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccggcaggaaagccaaaCgctgggcatgaggaagatga	15	8	0	3			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:30432695C>T	ENST00000375978.3	-	1	725	c.651G>A	c.(649-651)gcG>gcA	p.A217A		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	217					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GAAAGCCAAACGCTGGGCATG	0.617													False	0	True	20:30432695	0	T	30432695	C	T	30432695	2	4	62	1	0	0	0	0	0	0	0	1	6077	523	19	1		1	FOXS1	20	30432695	Silent	SNP	C	TCGA-HZ-7926-01A-11D-2154-08		30432695	32592825	136	5246											
MATN4	8785	broad.mit.edu	37	chr20	43926857	43926857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagatgtcatcctgggagCggccatccgtgaagaccagg	14	12	1	3			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:43926857C>T	ENST00000537548.1	-	8	1623	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	MATN4_ENST00000342716.4_Missense_Mutation_p.R460H|MATN4_ENST00000372754.1_Missense_Mutation_p.R501H|MATN4_ENST00000353917.5_Missense_Mutation_p.R378H|MATN4_ENST00000372756.1_Missense_Mutation_p.R460H|MATN4_ENST00000372751.4_Missense_Mutation_p.R311H|MATN4_ENST00000360607.6_Missense_Mutation_p.R419H			O95460	MATN4_HUMAN	matrilin 4	501	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ATCCTGGGAGCGGCCATCCGT	0.672													False	0	False	20:43926857	0	T	43926857	C	T	43926857	3	4	62	1	0	0	0	0	1	0	0	0	9403	768	27	1	382	1	MATN4	20	43926857	Missense_Mutation	SNP	C	TCGA-HZ-7926-01A-11D-2154-08	13494162	43926857	19098663	137	5247											
CYP24A1	0	broad.mit.edu	37	chr20	52789467	52789469	+	In_Frame_Del	DEL	CTT	CTT	-													caggatcagcagcccgtagcCttctttgcggtagtcgcgat							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:52789467_52789469delCTT	ENST00000216862.3	-	2	821_823	c.428_430delAAG	c.(427-432)gaaggc>ggc	p.E143del	CYP24A1_ENST00000395955.3_In_Frame_Del_p.E143del	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	143					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AGCCCGTAGCCTTCTTTGCGGTA	0.631													False	2	False	20:52789467	0	-	52789469	CTT	-	52789467	7	5	62	1	0	1	0	1	0	0	0	0	4179	681	24	0	1154	0	CYP24A1	20	52789467	In_Frame_Del	DEL	CTT	TCGA-HZ-7926-01A-11D-2154-08	8862610	52789467	10236053	138	5248											
SON	6651	broad.mit.edu	37	chr21	34926874	34926875	+	Frame_Shift_Ins	INS	-	-	GCTAATG													gtagtatgccagaaagagctINStcagagtcttcttcagagga							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr21:34926874_34926875insGCTAATG	ENST00000381679.4	+	3	5365_5366	c.5337_5338insGCTAATG	c.(5338-5340)tcafs	p.S1780fs	SON_ENST00000300278.4_Frame_Shift_Ins_p.S1780fs|SON_ENST00000381692.2_Intron|SON_ENST00000356577.4_Frame_Shift_Ins_p.S1780fs|SON_ENST00000290239.6_Frame_Shift_Ins_p.S1780fs			P18583	SON_HUMAN	SON DNA binding protein	1780					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CAGAAAGAGCTTCAGAGTCTTC	0.416													False	0	False	21:34926874	0	GCTAATG	34926875	-	GCTAATG	34926874	7	5	62	1	0	1	1	0	0	0	0	0	15006	1596	56	0	5347	0	SON	21	34926874	Frame_Shift_Ins	INS	-	TCGA-HZ-7926-01A-11D-2154-08		34926874	13203021	139	5249											
CYTH4	27128	broad.mit.edu	37	chr22	37688745	37688746	+	Splice_Site	INS	-	-	ACTTGCCC													gctcctggaggacatccaggINStgagtgcacactcgtgtcca							TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr22:37688745_37688746insACTTGCCC	ENST00000405206.3	+	2	185		c.e2+1		CYTH4_ENST00000439667.1_Splice_Site|CYTH4_ENST00000402997.1_Splice_Site|CYTH4_ENST00000248901.6_Splice_Site			Q9UIA0	CYH4_HUMAN	cytohesin 4						regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GGACATCCAGGTGAGTGCACAC	0.604													False	0	False	22:37688745	0	ACTTGCCC	37688746	-	ACTTGCCC	37688745	8	5	62	1	0	1	1	0	0	0	1	0	4231	1275	44	0	109	0	CYTH4	22	37688745	Splice_Site	INS	-	TCGA-HZ-7926-01A-11D-2154-08		37688745	13615821	140	5250											
SHROOM2	357	broad.mit.edu	37	chrX	9907312	9907312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgtcggcccccaaggCggagctgctgatcaagatga	13	13	1	3			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chrX:9907312C>T	ENST00000380913.3	+	8	4307	c.4217C>T	c.(4216-4218)gCg>gTg	p.A1406V	SHROOM2_ENST00000418909.2_Missense_Mutation_p.A241V	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1406	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCCCCCAAGGCGGAGCTGCTG	0.597													False	0	False	X:9907312	0	T	9907312	C	T	9907312	3	4	62	1	0	0	0	0	1	0	0	0	14375	768	27	1	4247	1	SHROOM2	23	9907312	Missense_Mutation	SNP	C	TCGA-HZ-7926-01A-11D-2154-08		9907312	145363248	141	5251											
ARID1A	8289	broad.mit.edu	37	chr1	27106228	27106228	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttggcattagcccagcaCagagccaccggaacatcaag	9	13	1	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:27106228C>T	ENST00000324856.7	+	20	6210	c.5839C>T	c.(5839-5841)Cag>Tag	p.Q1947*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1730*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1564*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q275*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1947					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TAGCCCAGCACAGAGCCACCG	0.532			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								False	0	False	1:27106228	0	T	27106228	C	T	27106228	4	4	63	1	0	0	0	0	0	1	0	0	915	479	17	2	5917	2	ARID1A	1	27106228	Nonsense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08		27106228	222144393	1	5252											
BAI2	576	broad.mit.edu	37	chr1	32222194	32222194	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcctggcggttgaagcGcaggtagagggagtacttgg	17	8	0	2			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:32222194G>C	ENST00000373658.3	-	4	585	c.244C>G	c.(244-246)Cgc>Ggc	p.R82G	BAI2_ENST00000398542.1_Missense_Mutation_p.R70G|BAI2_ENST00000257070.4_Missense_Mutation_p.R82G|BAI2_ENST00000398538.1_Missense_Mutation_p.R70G|BAI2_ENST00000527361.1_Missense_Mutation_p.R82G|BAI2_ENST00000398556.3_Missense_Mutation_p.R85G|BAI2_ENST00000398547.1_Missense_Mutation_p.R70G|BAI2_ENST00000373655.2_Missense_Mutation_p.R82G	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	82					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CGGTTGAAGCGCAGGTAGAGG	0.647													False	0	False	1:32222194	0	C	32222194	G	C	32222194	3	2	63	1	0	0	0	0	1	0	0	0	1303	1087	38	5	4633	5	BAI2	1	32222194	Missense_Mutation	SNP	G	TCGA-HZ-8001-01A-11D-2201-08	5115966	32222194	217028427	2	5253											
CCDC28B	79140	broad.mit.edu	37	chr1	32669888	32669888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgtggggaggaggaggacGatgaagaggaagaggatggg	23	1	0	3			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:32669888G>A	ENST00000421922.2	+	4	533	c.433G>A	c.(433-435)Gat>Aat	p.D145N	CCDC28B_ENST00000373602.5_Missense_Mutation_p.D145N|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	145										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGAGGAGGACGATGAAGAGGA	0.577													False	0	False	1:32669888	0	A	32669888	G	A	32669888	3	1	63	1	0	0	0	0	1	0	0	0	2824	1058	37	1	443	1	CCDC28B	1	32669888	Missense_Mutation	SNP	G	TCGA-HZ-8001-01A-11D-2201-08	447694	32669888	216580733	3	5254											
ATPAF1	64756	broad.mit.edu	37	chr1	47123857	47123857	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caatgttaaagattgaactgAgagtcttgaaagagacaata	9	4	1	5			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:47123857A>T	ENST00000576409.1	-	4	562	c.500T>A	c.(499-501)cTc>cAc	p.L167H	ATPAF1_ENST00000574428.1_Missense_Mutation_p.L144H|ATPAF1_ENST00000371937.4_Missense_Mutation_p.L144H|ATPAF1_ENST00000542495.1_5'UTR|ATPAF1_ENST00000532925.1_Missense_Mutation_p.L56H|ATPAF1_ENST00000329231.4_Missense_Mutation_p.L167H			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	144					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GATTGAACTGAGAGTCTTGAA	0.323													False	0	False	1:47123857	0	T	47123857	A	T	47123857	3	4	63	1	0	0	0	0	1	0	0	0	1204	304	11	5	579	5	ATPAF1	1	47123857	Missense_Mutation	SNP	A	TCGA-HZ-8001-01A-11D-2201-08	14453969	47123857	202126764	4	5255											
CCDC18	343099	broad.mit.edu	37	chr1	93704961	93704962	+	Frame_Shift_Ins	INS	-	-	CTAACTTGTCTCTGACTAAAAAAAAAGCC													agatggagaaaataaagcaaINStgcacctctctcaattagat							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:93704961_93704962insCTAACTTGTCTCTGACTAAAAAAAAAGCC	ENST00000343253.7	+	20	3197_3198	c.2695_2696insCTAACTTGTCTCTGACTAAAAAAAAAGCC	c.(2695-2697)atgfs	p.M899fs	CCDC18_ENST00000338949.4_Frame_Shift_Ins_p.M655fs|CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.M1018fs|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.M900fs|CCDC18_ENST00000334652.5_Frame_Shift_Ins_p.M195fs			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	899										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAATAAAGCAATGCACCTCTCT	0.361													False	0	False	1:93704961	0	CTAACTTGTCTCTGACTAAAAAAAAAGCC	93704962	-	CTAACTTGTCTCTGACTAAAAAAAAAGCC	93704961	7	5	63	1	0	1	1	0	0	0	0	0	2815	101	4	0	3130	0	CCDC18	1	93704961	Frame_Shift_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08	46581104	93704961	155545660	5	5256											
SORT1	6272	broad.mit.edu	37	chr1	109888457	109888458	+	Frame_Shift_Ins	INS	-	-	GTTATATTTAGTA													caatagttttgaagctttttINScccaagtctgaagttctcca							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:109888457_109888458insGTTATATTTAGTA	ENST00000256637.6	-	8	936_937	c.878_879insTACTAAATATAAC	c.(877-879)ggafs	p.-293fs	SORT1_ENST00000538502.1_Frame_Shift_Ins_p.-156fs	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1						endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGAAGCTTTTTCCCAAGTCTGA	0.396													False	0	True	1:109888457	0	GTTATATTTAGTA	109888458	-	GTTATATTTAGTA	109888457	7	5	63	1	0	1	1	0	0	0	0	0	15015	1770	62	0	1668	0	SORT1	1	109888457	Frame_Shift_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08	16183496	109888457	139362164	6	5257											
LAMC1	3915	broad.mit.edu	37	chr1	182992997	182992997	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagggcgggcggccgcagcGctgcatgcccgagttcgtca	17	14	1	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:182992997G>T	ENST00000258341.4	+	1	403	c.146G>T	c.(145-147)cGc>cTc	p.R49L		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	49	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCCGCAGCGCTGCATGCCC	0.721													False	0	False	1:182992997	0	T	182992997	G	T	182992997	3	4	63	1	0	0	0	0	1	0	0	0	8665	1087	38	3	148	3	LAMC1	1	182992997	Missense_Mutation	SNP	G	TCGA-HZ-8001-01A-11D-2201-08	73104540	182992997	66257624	7	5258											
LRRN2	10446	broad.mit.edu	37	chr1	204588995	204588995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcggtaggacgagcggggCgtataccagggccggatctg	18	10	1	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:204588995C>T	ENST00000367175.1	-	1	2338	c.126G>A	c.(124-126)acG>acA	p.T42T	LRRN2_ENST00000367177.3_Silent_p.T42T|LRRN2_ENST00000367176.3_Silent_p.T42T			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	42	LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACGAGCGGGGCGTATACCAGG	0.667													False	0	True	1:204588995	0	T	204588995	C	T	204588995	2	4	63	1	0	0	0	0	0	0	0	1	9097	755	27	1		1	LRRN2	1	204588995	Silent	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	21595998	204588995	44661626	8	5259											
OBSCN	84033	broad.mit.edu	37	chr1	228467880	228467880	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggtgtgtctcttgcagCgcgggaggtgacagtgacag	17	10	1	2			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:228467880C>T	ENST00000570156.2	+	34	9025	c.8951C>T	c.(8950-8952)gCg>gTg	p.A2984V	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Splice_Site_p.A2555V|OBSCN_ENST00000359599.6_Splice_Site_p.A1402V|OBSCN_ENST00000422127.1_Splice_Site_p.A2555V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1985	Ig-like 29.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTCTTGCAGCGCGGGAGGTG	0.642													False	0	False	1:228467880	0	T	228467880	C	T	228467880	5	4	63	1	0	0	0	0	0	0	1	0	10880	782	27	1	7774	1	OBSCN	1	228467880	Splice_Site	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	23878885	228467880	20782741	9	5260											
MSH2	4436	broad.mit.edu	37	chr2	47637485	47637486	+	Frame_Shift_Ins	INS	-	-	C													tttacccggaggagagactgINSctggagacatggggaaactg					rs141718852		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:47637485_47637486insC	ENST00000406134.1	+	3	681_682	c.619_620insC	c.(619-621)gctfs	p.A207fs	MSH2_ENST00000543555.1_Frame_Shift_Ins_p.A141fs|MSH2_ENST00000233146.2_Frame_Shift_Ins_p.A207fs			P43246	MSH2_HUMAN	mutS homolog 2	207					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGAGAGACTGCTGGAGACATG	0.45			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	1	False	2:47637485	0	C	47637486	-	C	47637485	7	5	63	1	0	1	1	0	0	0	0	0	9937	1319	46	0	629	0	MSH2	2	47637485	Frame_Shift_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08		47637485	195561888	10	5261											
FSHR	0	broad.mit.edu	37	chr2	49190896	49190896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accccatgatatcttcacatGggttgaatgcatctggctta	8	10	3	2			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:49190896G>T	ENST00000406846.2	-	10	1183	c.1064C>A	c.(1063-1065)cCa>cAa	p.P355Q	FSHR_ENST00000541117.1_Missense_Mutation_p.P91Q|FSHR_ENST00000346173.3_Missense_Mutation_p.P293Q|FSHR_ENST00000304421.4_Missense_Mutation_p.P329Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	355					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ATCTTCACATGGGTTGAATGC	0.453									Gonadal Dysgenesis, 46 XX				False	0	True	2:49190896	0	T	49190896	G	T	49190896	3	4	63	1	0	0	0	0	1	0	0	0	6115	1348	47	3	1027	3	FSHR	2	49190896	Missense_Mutation	SNP	G	TCGA-HZ-8001-01A-11D-2201-08	1553411	49190896	194008477	11	5262											
ACTG2	72	broad.mit.edu	37	chr2	74135852	74135852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagcacctgaagagcaccCcaccctgctcacagaggctc	9	16	1	3			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:74135852C>T	ENST00000409624.1	+	5	951	c.308C>T	c.(307-309)cCc>cTc	p.P103L	ACTG2_ENST00000345517.3_Missense_Mutation_p.P103L|ACTG2_ENST00000409731.3_Missense_Mutation_p.P60L			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	103					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GAAGAGCACCCCACCCTGCTC	0.527													False	0	True	2:74135852	0	T	74135852	C	T	74135852	3	4	63	1	0	0	0	0	1	0	0	0	197	623	22	2	318	2	ACTG2	2	74135852	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	24944956	74135852	169063521	12	5263											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	63	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-HZ-8001-01A-11D-2201-08	23711513	97847365	145352008	13	5264											
TTN	7273	broad.mit.edu	37	chr2	179574354	179574354	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattggacactttgcatgtGtacaaaccagcgtcgttcat	8	10	2	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:179574354G>T	ENST00000589042.1	-	99	28916	c.28692C>A	c.(28690-28692)taC>taA	p.Y9564*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y8320*|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y9247*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9247							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGCATGTGTACAAACCAG	0.438													False	0	False	2:179574354	0	T	179574354	G	T	179574354	4	4	63	1	0	0	0	0	0	1	0	0	16819	1372	48	3	75893	3	TTN	2	179574354	Nonsense_Mutation	SNP	G	TCGA-HZ-8001-01A-11D-2201-08	81726989	179574354	63625019	14	5265											
TRIP12	9320	broad.mit.edu	37	chr2	230660000	230660000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactaatgccaacaaaggtGcattacccactggttccact	7	12	0	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:230660000G>A	ENST00000283943.5	-	25	3816	c.3638C>T	c.(3637-3639)gCa>gTa	p.A1213V	TRIP12_ENST00000389044.4_Missense_Mutation_p.A1261V|TRIP12_ENST00000389045.3_Missense_Mutation_p.A943V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1213					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAACAAAGGTGCATTACCCAC	0.408													False	0	False	2:230660000	0	A	230660000	G	A	230660000	3	1	63	1	0	0	0	0	1	0	0	0	16639	1319	46	2	2408	2	TRIP12	2	230660000	Missense_Mutation	SNP	G	TCGA-HZ-8001-01A-11D-2201-08	51085646	230660000	12539373	15	5266											
COPS7B	64708	broad.mit.edu	37	chr2	232672287	232672288	+	Frame_Shift_Ins	INS	-	-	A													tgaacgggagtgtccccctcINSacgctgagcagaggcagccc							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:232672287_232672288insA	ENST00000409295.1	+	6	771_772	c.625_626insA	c.(625-627)cacfs	p.H209fs	COPS7B_ENST00000410017.1_Frame_Shift_Ins_p.T266fs|COPS7B_ENST00000350033.3_Frame_Shift_Ins_p.H243fs|COPS7B_ENST00000410024.1_Frame_Shift_Ins_p.H243fs|COPS7B_ENST00000409091.1_Frame_Shift_Ins_p.H136fs|COPS7B_ENST00000373608.3_Frame_Shift_Ins_p.T261fs			Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	243					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTGTCCCCCTCACGCTGAGCAG	0.614													False	1	False	2:232672287	0	A	232672288	-	A	232672287	7	5	63	1	0	1	1	0	0	0	0	0	3762	826	29	0	749	0	COPS7B	2	232672287	Frame_Shift_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08	2012287	232672287	10527086	16	5267											
NKTR	4820	broad.mit.edu	37	chr3	42675204	42675206	+	In_Frame_Del	DEL	TGT	TGT	-													ttactgagaagagatatgccTgttgttactgcagaacctga					rs149734658	byFrequency	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:42675204_42675206delTGT	ENST00000232978.8	+	10	1094_1096	c.906_908delTGT	c.(904-909)cctgtt>cct	p.V304del	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	304					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAGATATGCCTGTTGTTACTGCA	0.433													False	2	False	3:42675204	0	-	42675206	TGT	-	42675204	7	5	63	1	0	1	0	1	0	0	0	0	10516	1567	55	0	940	0	NKTR	3	42675204	In_Frame_Del	DEL	TGT	TCGA-HZ-8001-01A-11D-2201-08		42675204	155347226	17	5268											
PRR23B	389151	broad.mit.edu	37	chr3	138738751	138738751	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttgcacggagggcgttcCgggagcggcgagcgcgcgtg	20	12	0	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:138738751C>T	ENST00000329447.5	-	1	1017	c.753G>A	c.(751-753)ccG>ccA	p.P251P	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	251	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGGCGTTCCGGGAGCGGCG	0.667													False	0	True	3:138738751	0	T	138738751	C	T	138738751	2	4	63	1	0	0	0	0	0	0	0	1	12671	639	23	1		1	PRR23B	3	138738751	Silent	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	96063547	138738751	59283679	18	5269											
ATR	545	broad.mit.edu	37	chr3	142185227	142185227	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggttcatggctagcatggTtagcatgggtacccagaatt	12	7	1	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:142185227T>G	ENST00000350721.4	-	40	6957	c.6836A>C	c.(6835-6837)aAc>aCc	p.N2279T	ATR_ENST00000383101.3_Missense_Mutation_p.N2215T|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2279					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTAGCATGGTTAGCATGGGT	0.368								Other conserved DNA damage response genes					False	0	False	3:142185227	0	G	142185227	T	G	142185227	3	3	63	1	0	0	0	0	1	0	0	0	1208	1725	60	4	1130	4	ATR	3	142185227	Missense_Mutation	SNP	T	TCGA-HZ-8001-01A-11D-2201-08	3446476	142185227	55837203	19	5270											
MED12L	116931	broad.mit.edu	37	chr3	151129293	151129293	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcccctgactggctctcaGaggtgatacatgtggaaatg	12	10	1	3			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:151129293G>A	ENST00000474524.1	+	39	6071	c.6033G>A	c.(6031-6033)caG>caA	p.Q2011Q	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2011	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGCTCTCAGAGGTGATACA	0.478													False	0	False	3:151129293	0	A	151129293	G	A	151129293	2	1	63	1	0	0	0	0	0	0	0	1	9496	933	33	2		2	MED12L	3	151129293	Silent	SNP	G	TCGA-HZ-8001-01A-11D-2201-08	8944066	151129293	46893137	20	5271											
ZNF721	170960	broad.mit.edu	37	chr4	435583	435583	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtctccacacgtgtagggTttctctccagtatgaatttt	8	10	2	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:435583T>G	ENST00000338977.5	-	2	2685	c.2637A>C	c.(2635-2637)aaA>aaC	p.K879N	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.K891N|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ACGTGTAGGGTTTCTCTCCAG	0.383													False	0	True	4:435583	0	G	435583	T	G	435583	3	3	63	1	0	0	0	0	1	0	0	0	18205	1722	60	4	102	4	ZNF721	4	435583	Missense_Mutation	SNP	T	TCGA-HZ-8001-01A-11D-2201-08		435583	190718693	21	5272											
PGM2	55276	broad.mit.edu	37	chr4	37863199	37863199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaacattttttccagcCacagaagtacaatctgcagc	7	10	1	3			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:37863199C>A	ENST00000381967.4	+	14	1905	c.1805C>A	c.(1804-1806)cCa>cAa	p.P602Q	PGM2_ENST00000537241.1_Missense_Mutation_p.P442Q	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	602					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTTTTCCAGCCACAGAAGTAC	0.403													False	0	False	4:37863199	0	A	37863199	C	A	37863199	3	1	63	1	0	0	0	0	1	0	0	0	11867	594	21	3	1859	3	PGM2	4	37863199	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	37427616	37863199	153291077	22	5273											
TLR6	10333	broad.mit.edu	37	chr4	38830874	38830874	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaactgtcaactctgatagaAagctcatgtcagagacctga	8	9	4	4			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:38830874A>G	ENST00000436693.2	-	2	340	c.221T>C	c.(220-222)tTt>tCt	p.F74S	TLR6_ENST00000381950.1_Missense_Mutation_p.F74S	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	74					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTGATAGAAAGCTCATGTC	0.378													False	0	True	4:38830874	0	G	38830874	A	G	38830874	3	3	63	1	0	0	0	0	1	0	0	0	16037	14	1	4	2173	4	TLR6	4	38830874	Missense_Mutation	SNP	A	TCGA-HZ-8001-01A-11D-2201-08	967675	38830874	152323402	23	5274											
C4orf40	401137	broad.mit.edu	37	chr4	71024100	71024100	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatattccttatggcaTacggaatttaccacctcctc	5	12	1	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:71024100T>C	ENST00000344526.5	+	3	320	c.131T>C	c.(130-132)aTa>aCa	p.I44T	C4orf40_ENST00000502294.1_Missense_Mutation_p.I44T|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	44			I -> L (in dbSNP:rs1612460).	I -> V (in Ref. 1; CAE45962).		extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTTATGGCATACGGAATTTA	0.438													False	0	False	4:71024100	0	C	71024100	T	C	71024100	3	2	63	1	0	0	0	0	1	0	0	0	2286	1406	49	4	141	4	C4orf40	4	71024100	Missense_Mutation	SNP	T	TCGA-HZ-8001-01A-11D-2201-08	32193226	71024100	120130176	24	5275											
ENAM	10117	broad.mit.edu	37	chr4	71510452	71510452	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgagttagctactgaggaAcaatttaagagtataaatgt	10	3	0	3			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:71510452A>G	ENST00000396073.3	+	9	3590	c.3309A>G	c.(3307-3309)gaA>gaG	p.E1103E	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1103					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTACTGAGGAACAATTTAAGA	0.428													False	0	False	4:71510452	0	G	71510452	A	G	71510452	2	3	63	1	0	0	0	0	0	0	0	1	5144	40	2	4		4	ENAM	4	71510452	Silent	SNP	A	TCGA-HZ-8001-01A-11D-2201-08	486352	71510452	119643824	25	5276											
HELQ	113510	broad.mit.edu	37	chr4	84375061	84375061	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagttttcagtaaagctaTcatagtcaccaaacatgtcc	7	9	3	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:84375061T>C	ENST00000295488.3	-	2	497	c.335A>G	c.(334-336)gAt>gGt	p.D112G	HELQ_ENST00000440639.2_5'UTR|HELQ_ENST00000510985.1_Missense_Mutation_p.D112G	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	112							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTAAAGCTATCATAGTCACC	0.378								Other identified genes with known or suspected DNA repair function					False	0	False	4:84375061	0	C	84375061	T	C	84375061	3	2	63	1	0	0	0	0	1	0	0	0	7094	1435	50	4	3038	4	HELQ	4	84375061	Missense_Mutation	SNP	T	TCGA-HZ-8001-01A-11D-2201-08	12864609	84375061	106779215	26	5277											
SFRP2	6423	broad.mit.edu	37	chr4	154709592	154709592	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtcgggccaggggaagccGaaggcggacatgaccggggc	19	10	0	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:154709592G>A	ENST00000274063.4	-	1	680	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	132	FZ.			Missing (in Ref. 7; AAB70792).	brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				AGGGGAAGCCGAAGGCGGACA	0.662													False	0	False	4:154709592	0	A	154709592	G	A	154709592	2	1	63	1	0	0	0	0	0	0	0	1	14243	1049	37	1		1	SFRP2	4	154709592	Silent	SNP	G	TCGA-HZ-8001-01A-11D-2201-08	70334531	154709592	36444684	27	5278											
CARD6	84674	broad.mit.edu	37	chr5	40843472	40843473	+	Frame_Shift_Ins	INS	-	-	T													tgccaggaagaatgagaaggINSaatatgacacaccagaagtc							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:40843472_40843473insT	ENST00000381677.3	+	2	577_578	c.502_503insT	c.(502-504)gaafs	p.E168fs	CARD6_ENST00000254691.5_Frame_Shift_Ins_p.E168fs			Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	168					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAATGAGAAGGAATATGACACA	0.381													False	0	False	5:40843472	0	T	40843473	-	T	40843472	7	5	63	1	0	1	1	0	0	0	0	0	2670	1175	41	0	508	0	CARD6	5	40843472	Frame_Shift_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08		40843472	140071788	28	5279	98	2									
CARD6	84674	broad.mit.edu	37	chr5	40843473	40843474	+	Frame_Shift_Ins	INS	-	-	CTGTATTCTC													gccaggaagaatgagaaggaINSatatgacacaccagaagtca							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:40843473_40843474insCTGTATTCTC	ENST00000381677.3	+	2	578_579	c.503_504insCTGTATTCTC	c.(502-507)gaatatfs	p.EY168fs	CARD6_ENST00000254691.5_Frame_Shift_Ins_p.EY168fs			Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	168					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AATGAGAAGGAATATGACACAC	0.381													False	0	False	5:40843473	0	CTGTATTCTC	40843474	-	CTGTATTCTC	40843473	7	5	63	1	0	1	1	0	0	0	0	0	2670	246	9	0	509	0	CARD6	5	40843473	Frame_Shift_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08	1	40843473	140071787	29	5280	98	2									
AP3B1	8546	broad.mit.edu	37	chr5	77423982	77423983	+	In_Frame_Ins	INS	-	-	AGG													ccaagctggaaatgatctctINSatctattaaaaatagggaaa							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:77423982_77423983insAGG	ENST00000519295.1	-	17	1963_1964	c.1692_1693insCCT	c.(1690-1695)gataga>gatCCTaga	p.564_565DR>DPR	AP3B1_ENST00000255194.6_In_Frame_Ins_p.613_614DR>DPR	NM_003664.3	NP_003655.3	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	613					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AAATGATCTCTATCTATTAAAA	0.371									Hermansky-Pudlak syndrome				False	0	True	5:77423982	0	AGG	77423983	-	AGG	77423982	7	5	63	1	0	1	1	0	0	0	0	0	746	1530	53	0	1488	0	AP3B1	5	77423982	In_Frame_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08	36580509	77423982	103491278	30	5281	99	2									
AP3B1	8546	broad.mit.edu	37	chr5	77423984	77423985	+	Splice_Site	INS	-	-	AG													aagctggaaatgatctctatINSctattaaaaatagggaaaaa							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:77423984_77423985insAG	ENST00000519295.1	-	17	1962	c.1691_1691insCT	c.(1690-1692)gat>gCTat	p.D564fs	AP3B1_ENST00000255194.6_Splice_Site_p.D613fs	NM_003664.3	NP_003655.3	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	613					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGATCTCTATCTATTAAAAAT	0.366									Hermansky-Pudlak syndrome				False	0	True	5:77423984	0	AG	77423985	-	AG	77423984	8	5	63	1	0	1	1	0	0	0	1	0	746	1449	50	0	1490	0	AP3B1	5	77423984	Splice_Site	INS	-	TCGA-HZ-8001-01A-11D-2201-08	2	77423984	103491276	31	5282	99	2									
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	63	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-HZ-8001-01A-11D-2201-08	1186460	78610444	102304816	32	5283											
GPR98	84059	broad.mit.edu	37	chr5	90086832	90086833	+	Frame_Shift_Ins	INS	-	-	AAACTCAACAAAG													gtacctgagatagaggaagaINSttatgtgatccagcttgttt							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:90086832_90086833insAAACTCAACAAAG	ENST00000405460.2	+	70	14282_14283	c.14186_14187insAAACTCAACAAAG	c.(14185-14190)gattatfs	p.DY4729fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.DY390fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4729	Calx-beta 32.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATAGAGGAAGATTATGTGATCC	0.441													False	0	False	5:90086832	0	AAACTCAACAAAG	90086833	-	AAACTCAACAAAG	90086832	7	5	63	1	0	1	1	0	0	0	0	0	6768	333	12	0	14464	0	GPR98	5	90086832	Frame_Shift_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08	11476388	90086832	90828428	33	5284											
FBN2	2201	broad.mit.edu	37	chr5	127866347	127866347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagtacacatgttaggaCgggaacaaaatccatctcca	7	10	1	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:127866347C>T	ENST00000508053.1	-	9	1351	c.377G>A	c.(376-378)cGt>cAt	p.R126H	FBN2_ENST00000508989.1_Intron|FBN2_ENST00000262464.4_Missense_Mutation_p.R126H			P35556	FBN2_HUMAN	fibrillin 2	126	EGF-like 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATGTTAGGACGGGAACAAAA	0.338													False	0	True	5:127866347	0	T	127866347	C	T	127866347	3	4	63	1	0	0	0	0	1	0	0	0	5743	536	19	1	8613	1	FBN2	5	127866347	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	37779515	127866347	53048913	34	5285											
MDGA1	266727	broad.mit.edu	37	chr6	37631799	37631799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgagggtgtccccctcccGgatggtgtagacacgctcgc	13	14	0	2			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:37631799G>A	ENST00000297153.7	-	2	1329	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	MDGA1_ENST00000505425.1_Missense_Mutation_p.R51W|MDGA1_ENST00000434837.3_Missense_Mutation_p.R51W			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	51	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TCCCCCTCCCGGATGGTGTAG	0.637													False	0	True	6:37631799	0	A	37631799	G	A	37631799	3	1	63	1	0	0	0	0	1	0	0	0	9473	1115	39	1	2780	1	MDGA1	6	37631799	Missense_Mutation	SNP	G	TCGA-HZ-8001-01A-11D-2201-08		37631799	133483268	35	5286											
MDN1	23195	broad.mit.edu	37	chr6	90459470	90459471	+	Splice_Site	INS	-	-	AT													catggcatcaataagaacacINSctaggaagaaacaaacagca							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:90459470_90459471insAT	ENST00000369393.3	-	25	3522	c.3407_3407insAT	c.(3406-3408)ggt>gATgt	p.G1136fs	MDN1_ENST00000428876.1_Splice_Site_p.G1136fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1136					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AATAAGAACACCTAGGAAGAAA	0.337													False	0	False	6:90459470	0	AT	90459471	-	AT	90459470	8	5	63	1	0	1	1	0	0	0	1	0	9482	521	18	0	13695	0	MDN1	6	90459470	Splice_Site	INS	-	TCGA-HZ-8001-01A-11D-2201-08	52827671	90459470	80655597	36	5287	100	2									
MDN1	23195	broad.mit.edu	37	chr6	90459471	90459472	+	Splice_Site	INS	-	-	AGA													atggcatcaataagaacaccINStaggaagaaacaaacagcaa							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:90459471_90459472insAGA	ENST00000369393.3	-	25	3522		c.e25-1		MDN1_ENST00000428876.1_Splice_Site			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATAAGAACACCTAGGAAGAAAC	0.337													False	0	False	6:90459471	0	AGA	90459472	-	AGA	90459471	8	5	63	1	0	1	1	0	0	0	1	0	9482	695	24	0	13696	0	MDN1	6	90459471	Splice_Site	INS	-	TCGA-HZ-8001-01A-11D-2201-08	1	90459471	80655596	37	5288	100	2									
SIM1	6492	broad.mit.edu	37	chr6	100896021	100896021	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggcagggtggcgccttaCgcaaatggtgcgcgcagcgc	18	12	0	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:100896021C>T	ENST00000369208.3	-	8	1633		c.e8+1		SIM1_ENST00000262901.4_Splice_Site			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1						cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGCGCCTTACGCAAATGGTG	0.617													False	0	False	6:100896021	0	T	100896021	C	T	100896021	5	4	63	1	0	0	0	0	0	0	1	0	14404	550	19	1	1469	1	SIM1	6	100896021	Splice_Site	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	10436550	100896021	70219046	38	5289											
GPRC6A	0	broad.mit.edu	37	chr6	117116998	117116999	+	Splice_Site	DEL	GC	GC	-													ggagcatttagattgaatttGctatattaaaagtgaaaaaa					rs78807485		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:117116998_117116999delGC	ENST00000310357.3	-	5	1570	c.1549delGC	c.(1549-1551)gca>ca	p.A517fs	GPRC6A_ENST00000530250.1_Splice_Site_p.A342fs|GPRC6A_ENST00000368549.3_Splice_Site_p.A446fs	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	517					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GATTGAATTTGCTATATTAAAA	0.302													False	1	False	6:117116998	0	-	117116999	GC	-	117116998	8	5	63	1	0	1	0	1	0	0	1	0	6775	1333	46	0	1239	0	GPRC6A	6	117116998	Splice_Site	DEL	GC	TCGA-HZ-8001-01A-11D-2201-08	16220977	117116998	53998069	39	5290											
RELN	5649	broad.mit.edu	37	chr7	103124188	103124188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtgatcccgttgttgaCgctgtattgcagcagcactg	12	11	0	2	rs115035120	by1000genomes	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:103124188C>T	ENST00000428762.1	-	62	10252	c.10093G>A	c.(10093-10095)Gtc>Atc	p.V3365I	RELN_ENST00000473945.1_5'UTR|RELN_ENST00000343529.5_Missense_Mutation_p.V3365I|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.V3365I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3365					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.V3365I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCGTTGTTGACGCTGTATTGC	0.552													False	0	False	7:103124188	0	T	103124188	C	T	103124188	3	4	63	1	0	0	0	0	1	0	0	0	13299	536	19	1	305	1	RELN	7	103124188	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08		103124188	56014475	40	5291											
NUP205	23165	broad.mit.edu	37	chr7	135258466	135258466	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagggagtcgccattcaggGtcaacagggaactcgacttc	13	10	2	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:135258466G>T	ENST00000285968.6	+	3	262	c.236G>T	c.(235-237)gGt>gTt	p.G79V	NUP205_ENST00000489493.1_3'UTR|NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	79					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCCATTCAGGGTCAACAGGGA	0.398													False	0	True	7:135258466	0	T	135258466	G	T	135258466	3	4	63	1	0	0	0	0	1	0	0	0	10827	1261	44	3	246	3	NUP205	7	135258466	Missense_Mutation	SNP	G	TCGA-HZ-8001-01A-11D-2201-08	32134278	135258466	23880197	41	5292											
RP1L1	94137	broad.mit.edu	37	chr8	10468915	10468915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattggggcctggggacggcGtggggcctggctggcgtgtc	21	9	0	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:10468915G>A	ENST00000382483.3	-	4	2916	c.2693C>T	c.(2692-2694)aCg>aTg	p.T898M		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	898					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGGGACGGCGTGGGGCCTGG	0.701													False	0	False	8:10468915	0	A	10468915	G	A	10468915	3	1	63	1	0	0	0	0	1	0	0	0	13612	1145	40	1	4513	1	RP1L1	8	10468915	Missense_Mutation	SNP	G	TCGA-HZ-8001-01A-11D-2201-08		10468915	135895107	42	5293											
MTUS1	57509	broad.mit.edu	37	chr8	17612188	17612192	+	Frame_Shift_Del	DEL	TGTCT	TGTCT	-													tcctttggagaccatttgtgTgtcttcagtctcagtgactt							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	TGTCT	TGTCT	-	-	TGTCT	TGTCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:17612188_17612192delTGTCT	ENST00000262102.6	-	2	1349_1353	c.1125_1129delAGACA	c.(1123-1131)gaagacacafs	p.EDT375fs	MTUS1_ENST00000381869.3_Frame_Shift_Del_p.EDT375fs|MTUS1_ENST00000519263.1_Frame_Shift_Del_p.EDT375fs|MTUS1_ENST00000381862.3_Frame_Shift_Del_p.EDT375fs	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	375						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ACCATTTGTGTGTCTTCAGTCTCAG	0.444													False	1	True	8:17612188	0	-	17612192	TGTCT	-	17612188	7	5	63	1	0	1	0	1	0	0	0	0	10032	1696	59	0	3058	0	MTUS1	8	17612188	Frame_Shift_Del	DEL	TGTCT	TCGA-HZ-8001-01A-11D-2201-08	7143273	17612188	128751834	43	5294											
CSMD3	114788	broad.mit.edu	37	chr8	114326968	114326968	+	Frame_Shift_Del	DEL	C	C	-													atccatatggaaaaccagggCtttctatagtgccattaagt							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:114326968delC	ENST00000297405.5	-	2	477	c.233delG	c.(232-234)agcfs	p.S78fs	CSMD3_ENST00000455883.2_Frame_Shift_Del_p.S78fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.S78fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.S38fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	78	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAACCAGGGCTTTCTATAGT	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	1	True	8:114326968	0	-	114326968	C	-	114326968	7	5	63	1	0	1	0	1	0	0	0	0	3971	797	28	0	11170	0	CSMD3	8	114326968	Frame_Shift_Del	DEL	C	TCGA-HZ-8001-01A-11D-2201-08	96714780	114326968	32037054	44	5295											
PTPRD	5789	broad.mit.edu	37	chr9	8492935	8492935	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttgtgtaggctgtgacggtGagggagtaggaagtttcagg	19	3	1	2			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:8492935G>A	ENST00000381196.4	-	24	2937	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	PTPRD_ENST00000356435.5_Silent_p.L798L|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Silent_p.L785L|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000358503.5_Silent_p.L776L|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Silent_p.L798L|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	798	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGTGACGGTGAGGGAGTAGG	0.493										TSP Lung(15;0.13)			False	0	False	9:8492935	0	A	8492935	G	A	8492935	2	1	63	1	0	0	0	0	0	0	0	1	12878	1277	45	2		2	PTPRD	9	8492935	Silent	SNP	G	TCGA-HZ-8001-01A-11D-2201-08		8492935	132720496	45	5296											
RECK	8434	broad.mit.edu	37	chr9	36058869	36058869	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactaaaacatctgttgcagCgagccccagattattgccca	8	12	1	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:36058869C>T	ENST00000377966.3	+	3	771	c.205C>T	c.(205-207)Cga>Tga	p.R69*	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	69	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TCTGTTGCAGCGAGCCCCAGA	0.333													False	0	False	9:36058869	0	T	36058869	C	T	36058869	4	4	63	1	0	0	0	0	0	1	0	0	13279	760	27	1	215	1	RECK	9	36058869	Nonsense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	27565934	36058869	105154562	46	5297											
CRB2	286204	broad.mit.edu	37	chr9	126129592	126129592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcgccttcagcttccGccatgctgcgggtttcctgt	11	16	1	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:126129592G>A	ENST00000373631.3	+	5	897	c.896G>A	c.(895-897)cGc>cAc	p.R299H	CRB2_ENST00000359999.3_Missense_Mutation_p.R299H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	299	EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TTCAGCTTCCGCCATGCTGCG	0.687													False	0	False	9:126129592	0	A	126129592	G	A	126129592	3	1	63	1	0	0	0	0	1	0	0	0	3872	1087	38	1	914	1	CRB2	9	126129592	Missense_Mutation	SNP	G	TCGA-HZ-8001-01A-11D-2201-08	90070723	126129592	15083839	47	5298											
STXBP1	6812	broad.mit.edu	37	chr9	130442473	130442473	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acttgacaccaaacactaccCttatatctctacccgttcct	2	16	1	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:130442473C>G	ENST00000373302.3	+	17	1638	c.1499C>G	c.(1498-1500)cCt>cGt	p.P500R	STXBP1_ENST00000373299.1_Missense_Mutation_p.P500R|STXBP1_ENST00000481942.1_Intron	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	500					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AAACACTACCCTTATATCTCT	0.488													False	0	True	9:130442473	0	G	130442473	C	G	130442473	3	3	63	1	0	0	0	0	1	0	0	0	15434	681	24	5	1565	5	STXBP1	9	130442473	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	4312881	130442473	10770958	48	5299											
PNPLA7	375775	broad.mit.edu	37	chr9	140357967	140357967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggacatgctggcacgcacGtaccaccacagggagcctgg	14	13	0	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:140357967G>A	ENST00000406427.1	-	29	3579	c.3243C>T	c.(3241-3243)taC>taT	p.Y1081Y	PNPLA7_ENST00000371457.1_Silent_p.Y662Y|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Silent_p.Y1056Y	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1056	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGCACGCACGTACCACCACA	0.657													False	0	True	9:140357967	0	A	140357967	G	A	140357967	2	1	63	1	0	0	0	0	0	0	0	1	12239	1140	40	1		1	PNPLA7	9	140357967	Silent	SNP	G	TCGA-HZ-8001-01A-11D-2201-08	9915494	140357967	855464	49	5300											
COL13A1	1305	broad.mit.edu	37	chr10	71683572	71683572	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccagggagaagcaggtgtCgatggccaggttggcccccc	15	14	0	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:71683572C>T	ENST00000356340.3	+	22	1748	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	COL13A1_ENST00000398968.3_Silent_p.V385V|COL13A1_ENST00000520267.1_Silent_p.V347V|COL13A1_ENST00000398966.3_Silent_p.V382V|COL13A1_ENST00000398972.3_Silent_p.V404V|COL13A1_ENST00000357811.3_Silent_p.V382V|COL13A1_ENST00000520133.1_Silent_p.V353V|COL13A1_ENST00000398969.3_Silent_p.V347V|COL13A1_ENST00000398974.3_Silent_p.V392V|COL13A1_ENST00000398964.3_Silent_p.V375V|COL13A1_ENST00000354547.3_Silent_p.V382V|COL13A1_ENST00000398971.3_Silent_p.V404V|COL13A1_ENST00000517713.1_Silent_p.V382V|COL13A1_ENST00000398978.3_Silent_p.V404V|COL13A1_ENST00000522165.1_Silent_p.V385V|COL13A1_ENST00000398973.3_Silent_p.V404V			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	404	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAGCAGGTGTCGATGGCCAGG	0.592													False	0	False	10:71683572	0	T	71683572	C	T	71683572	2	4	63	1	0	0	0	0	0	0	0	1	3693	871	31	1		1	COL13A1	10	71683572	Silent	SNP	C	TCGA-HZ-8001-01A-11D-2201-08		71683572	63851175	50	5301											
IRF7	3665	broad.mit.edu	37	chr11	613476	613476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgctgggggtctgtggCccggacagctgggtctgggg	19	10	2	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:613476C>T	ENST00000397566.1	-	7	1415	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	IRF7_ENST00000525445.1_Missense_Mutation_p.A217T|IRF7_ENST00000330243.5_Missense_Mutation_p.A336T|IRF7_ENST00000397570.1_Missense_Mutation_p.A294T|IRF7_ENST00000348655.6_Missense_Mutation_p.A294T|IRF7_ENST00000397574.2_Missense_Mutation_p.A323T|IRF7_ENST00000397562.3_Missense_Mutation_p.A30T	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	323					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTCTGTGGCCCGGACAGCT	0.672													False	0	True	11:613476	0	T	613476	C	T	613476	3	4	63	1	0	0	0	0	1	0	0	0	7885	739	26	2	556	2	IRF7	11	613476	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08		613476	134393040	51	5302											
ABCC8	6833	broad.mit.edu	37	chr11	17415843	17415843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatggaagccgtggcctcGtccatgatgaagatgctggt	13	9	1	3			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:17415843G>A	ENST00000302539.4	-	37	4643	c.4518C>T	c.(4516-4518)gaC>gaT	p.D1506D	ABCC8_ENST00000389817.3_Silent_p.D1505D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1505	ABC transporter 2.		E -> K (in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP).		carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCGTGGCCTCGTCCATGATGA	0.577													False	0	False	11:17415843	0	A	17415843	G	A	17415843	2	1	63	1	0	0	0	0	0	0	0	1	58	1136	40	1		1	ABCC8	11	17415843	Silent	SNP	G	TCGA-HZ-8001-01A-11D-2201-08	16802367	17415843	117590673	52	5303											
HIPK3	10114	broad.mit.edu	37	chr11	33308618	33308619	+	In_Frame_Ins	INS	-	-	TTC													atgctggaaaagagggacaaINSatgaaattgtagcaatcaaa							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:33308618_33308619insTTC	ENST00000303296.4	+	2	963_964	c.658_659insTTC	c.(658-660)aat>aTTCat	p.220_220N>IH	HIPK3_ENST00000525975.1_In_Frame_Ins_p.220_220N>IH|HIPK3_ENST00000456517.1_In_Frame_Ins_p.220_220N>IH|HIPK3_ENST00000379016.3_In_Frame_Ins_p.220_220N>IH	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	220	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AAGAGGGACAAATGAAATTGTA	0.391													False	0	True	11:33308618	0	TTC	33308619	-	TTC	33308618	7	5	63	1	0	1	1	0	0	0	0	0	7165	14	1	0	660	0	HIPK3	11	33308618	In_Frame_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08	15892775	33308618	101697898	53	5304											
OR5L2	26338	broad.mit.edu	37	chr11	55595169	55595169	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggacggtgtgttctctgattCactcgtccttagctcttagg	11	10	3	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:55595169C>A	ENST00000378397.1	+	1	475	c.475C>A	c.(475-477)Cac>Aac	p.H159N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCTCTGATTCACTCGTCCTT	0.483										HNSCC(27;0.073)			False	0	False	11:55595169	0	A	55595169	C	A	55595169	3	1	63	1	0	0	0	0	1	0	0	0	11239	826	29	3	477	3	OR5L2	11	55595169	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	22286551	55595169	79411347	54	5305											
KLRC3	3823	broad.mit.edu	37	chr12	10569320	10569320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggatgatgactgctgttaCgaaacacaccaatccatgag	9	9	0	3			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:10569320C>T	ENST00000396439.2	-	5	577	c.533G>A	c.(532-534)cGt>cAt	p.R178H	NKG2-E_ENST00000539033.1_Missense_Mutation_p.R178H|KLRC3_ENST00000381903.2_Missense_Mutation_p.R178H|KLRC3_ENST00000381904.2_Missense_Mutation_p.R178H	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACTGCTGTTACGAAACACACC	0.294													False	0	False	12:10569320	0	T	10569320	C	T	10569320	3	4	63	1	0	0	0	0	1	0	0	0	8467	536	19	1	297	1	KLRC3	12	10569320	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08		10569320	123282575	55	5306											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	63	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	14828964	25398284	108453611	56	5307											
CNPY2	10330	broad.mit.edu	37	chr12	56705037	56705037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatctgagtcgattcggatGccttgtaggtccagttcact	10	9	2	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:56705037G>A	ENST00000273308.4	-	4	906	c.366C>T	c.(364-366)ggC>ggT	p.G122G	RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Silent_p.G122G	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	122	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						CGATTCGGATGCCTTGTAGGT	0.502													False	0	False	12:56705037	0	A	56705037	G	A	56705037	2	1	63	1	0	0	0	0	0	0	0	1	3651	1306	46	2		2	CNPY2	12	56705037	Silent	SNP	G	TCGA-HZ-8001-01A-11D-2201-08	31306753	56705037	77146858	57	5308											
ANKRD13A	88455	broad.mit.edu	37	chr12	110463620	110463621	+	In_Frame_Ins	INS	-	-	AAAACA													accgaggaggaaaaaaagagINSatataaaggtaatcaccacc							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:110463620_110463621insAAAACA	ENST00000261739.4	+	8	1041_1042	c.875_876insAAAACA	c.(874-879)agatat>agAAAACAatat	p.292_293RY>RKQY		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	292										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GAAAAAAAGAGATATAAAGGTA	0.401													False	0	False	12:110463620	0	AAAACA	110463621	-	AAAACA	110463620	7	5	63	1	0	1	1	0	0	0	0	0	641	942	33	0	905	0	ANKRD13A	12	110463620	In_Frame_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08	53758583	110463620	23388275	58	5309	101	2									
ANKRD13A	88455	broad.mit.edu	37	chr12	110463622	110463623	+	Frame_Shift_Ins	INS	-	-	CCAGCAAA													cgaggaggaaaaaaagagatINSataaaggtaatcaccaccac							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:110463622_110463623insCCAGCAAA	ENST00000261739.4	+	8	1043_1044	c.877_878insCCAGCAAA	c.(877-879)tatfs	p.Y293fs		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	293										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AAAAAAGAGATATAAAGGTAAT	0.401													False	0	False	12:110463622	0	CCAGCAAA	110463623	-	CCAGCAAA	110463622	7	5	63	1	0	1	1	0	0	0	0	0	641	1406	49	0	907	0	ANKRD13A	12	110463622	Frame_Shift_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08	2	110463622	23388273	59	5310	101	2									
LHX5	64211	broad.mit.edu	37	chr12	113905137	113905137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcggacgcatgcgccgCggactccggaagaaggcgtg	16	14	0	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:113905137C>T	ENST00000261731.3	-	4	1338	c.765G>A	c.(763-765)ccG>ccA	p.P255P		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	255						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GCATGCGCCGCGGACTCCGGA	0.657													False	0	False	12:113905137	0	T	113905137	C	T	113905137	2	4	63	1	0	0	0	0	0	0	0	1	8826	755	27	1		1	LHX5	12	113905137	Silent	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	3441515	113905137	19946758	60	5311											
DNAH10	196385	broad.mit.edu	37	chr12	124352474	124352474	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccagttagccaagatgttgGatgcgttgctagaaggagaa	13	7	0	3			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:124352474G>T	ENST00000409039.3	+	42	6998	c.6973G>T	c.(6973-6975)Gat>Tat	p.D2325Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2325					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGATGTTGGATGCGTTGCT	0.512													False	0	False	12:124352474	0	T	124352474	G	T	124352474	3	4	63	1	0	0	0	0	1	0	0	0	4628	1174	41	3	7139	3	DNAH10	12	124352474	Missense_Mutation	SNP	G	TCGA-HZ-8001-01A-11D-2201-08	10447337	124352474	9499421	61	5312											
PIWIL1	9271	broad.mit.edu	37	chr12	130830394	130830395	+	In_Frame_Ins	INS	-	-	AACAAT													ggtgtgaatacaaggcagaaINScctagaccatgttaaagaat							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:130830394_130830395insAACAAT	ENST00000245255.3	+	4	559_560	c.287_288insAACAAT	c.(286-291)aaccta>aaAACAATccta	p.96_96N>KTI		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	96					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACAAGGCAGAACCTAGACCATG	0.396													False	0	False	12:130830394	0	AACAAT	130830395	-	AACAAT	130830394	7	5	63	1	0	1	1	0	0	0	0	0	12026	43	2	0	297	0	PIWIL1	12	130830394	In_Frame_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08	6477920	130830394	3021501	62	5313											
SLC10A2	6555	broad.mit.edu	37	chr13	103718456	103718456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttccacgttgcatcccatGgagaacatcaccaaggccaa	7	13	1	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr13:103718456G>A	ENST00000245312.3	-	1	740	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	48					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGCATCCCATGGAGAACATCA	0.493													False	0	False	13:103718456	0	A	103718456	G	A	103718456	2	1	63	1	0	0	0	0	0	0	0	1	14455	1335	47	2		2	SLC10A2	13	103718456	Silent	SNP	G	TCGA-HZ-8001-01A-11D-2201-08		103718456	11451422	63	5314											
MDGA2	161357	broad.mit.edu	37	chr14	47343307	47343307	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taggagtatattttgtatttCttgttgctgtactttgcttt	8	4	1	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:47343307C>T	ENST00000426342.1	-	13	2386	c.1640G>A	c.(1639-1641)aGa>aAa	p.R547K	MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.R845K|MDGA2_ENST00000399232.2_Missense_Mutation_p.R776K|MDGA2_ENST00000357362.3_Missense_Mutation_p.R547K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	776	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTTGTATTTCTTGTTGCTGT	0.373													False	0	True	14:47343307	0	T	47343307	C	T	47343307	3	4	63	1	0	0	0	0	1	0	0	0	9474	913	32	2	563	2	MDGA2	14	47343307	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08		47343307	60006233	64	5315											
BTBD6	90135	broad.mit.edu	37	chr14	105716868	105716868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccgtcctggacggcagCgaactcagctactttgggca	13	12	1	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:105716868C>T	ENST00000463376.2	+	3	1633	c.1092C>T	c.(1090-1092)agC>agT	p.S364S	BTBD6_ENST00000392554.3_Silent_p.S439S|BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000327471.3_Silent_p.S364S|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000536364.1_Silent_p.S439S|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	439						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		TGGACGGCAGCGAACTCAGCT	0.592													False	0	False	14:105716868	0	T	105716868	C	T	105716868	2	4	63	1	0	0	0	0	0	0	0	1	1552	767	27	1		1	BTBD6	14	105716868	Silent	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	58373561	105716868	1632672	65	5316											
CASC5	57082	broad.mit.edu	37	chr15	40898600	40898600	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgttaccctagatattgaaaCccccaaggagtcctcttcag	7	12	2	2			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr15:40898600C>G	ENST00000346991.5	+	4	475	c.85C>G	c.(85-87)Ccc>Gcc	p.P29A	CASC5_ENST00000399668.2_Missense_Mutation_p.P29A|CASC5_ENST00000527044.1_Missense_Mutation_p.P29A			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	29	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GATATTGAAACCCCCAAGGAG	0.318													False	0	True	15:40898600	0	G	40898600	C	G	40898600	3	3	63	1	0	0	0	0	1	0	0	0	2683	507	18	5	95	5	CASC5	15	40898600	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08		40898600	61632792	66	5317											
HS3ST2	9956	broad.mit.edu	37	chr16	22926868	22926868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgaaaccgttgggcaggaCttcaggtgggaataagccca	13	8	1	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:22926868C>A	ENST00000261374.3	+	2	1523	c.1089C>A	c.(1087-1089)gaC>gaA	p.D363E		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	363						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TTGGGCAGGACTTCAGGTGGG	0.463													False	0	False	16:22926868	0	A	22926868	C	A	22926868	3	1	63	1	0	0	0	0	1	0	0	0	7411	564	20	3	1095	3	HS3ST2	16	22926868	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08		22926868	67427885	67	5318											
SNX20	124460	broad.mit.edu	37	chr16	50711341	50711341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtcctgggtgcgggaggtCggggccagtggctggtgctt	21	8	0	0	rs34428900		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:50711341C>T	ENST00000300590.3	-	2	269	c.97G>A	c.(97-99)Gac>Aac	p.D33N	SNX20_ENST00000330943.4_Missense_Mutation_p.D33N|SNX20_ENST00000423026.2_Missense_Mutation_p.D33N	NM_153337.2	NP_699168.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	33					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TGCGGGAGGTCGGGGCCAGTG	0.617													False	0	True	16:50711341	0	T	50711341	C	T	50711341	3	4	63	1	0	0	0	0	1	0	0	0	14972	884	31	1	1008	1	SNX20	16	50711341	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	27784473	50711341	39643412	68	5319											
RBL2	5934	broad.mit.edu	37	chr16	53488708	53488709	+	Frame_Shift_Ins	INS	-	-	CATT													ggttcaggaacagagactgcINStgaaagggtgcagatgaaaa							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:53488708_53488709insCATT	ENST00000262133.6	+	8	1270_1271	c.1133_1134insCATT	c.(1132-1137)gctgaafs	p.E379fs	RBL2_ENST00000544545.1_Frame_Shift_Ins_p.E163fs|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	379					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACAGAGACTGCTGAAAGGGTGC	0.465													False	0	False	16:53488708	0	CATT	53488709	-	CATT	53488708	7	5	63	1	0	1	1	0	0	0	0	0	13189	797	28	0	1163	0	RBL2	16	53488708	Frame_Shift_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08	2777367	53488708	36866045	69	5320											
TMEM231	79583	broad.mit.edu	37	chr16	75579249	75579249	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaatgagaagcgctcttaCgttgtatcgggcatctaggc	12	9	2	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:75579249C>T	ENST00000568377.1	-	3	708		c.e3+1		RP11-77K12.7_ENST00000460606.1_Splice_Site|TMEM231_ENST00000569294.1_Splice_Site|RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000565067.1_Intron|TMEM231_ENST00000258173.6_Splice_Site	NM_001077416.1	NP_001070884	Q9H6L2	TM231_HUMAN	transmembrane protein 231							integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGCGCTCTTACGTTGTATCGG	0.507													False	0	False	16:75579249	0	T	75579249	C	T	75579249	5	4	63	1	0	0	0	0	0	0	1	0	16231	550	19	1	383	1	TMEM231	16	75579249	Splice_Site	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	22090541	75579249	14775504	70	5321											
RABEP1	9135	broad.mit.edu	37	chr17	5257748	5257749	+	In_Frame_Ins	INS	-	-	CAT													ccagtagtgtgtgctttaacINStcaagaagaatcttcagccc							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:5257748_5257749insCAT	ENST00000546142.2	+	8	1245_1246	c.1058_1059insCAT	c.(1057-1062)actcaa>acCATtcaa	p.353_354TQ>TIQ	RABEP1_ENST00000537505.1_In_Frame_Ins_p.310_311TQ>TIQ|RABEP1_ENST00000408982.2_In_Frame_Ins_p.353_354TQ>TIQ|RABEP1_ENST00000341923.6_In_Frame_Ins_p.353_354TQ>TIQ|RABEP1_ENST00000262477.6_In_Frame_Ins_p.353_354TQ>TIQ			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	353					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGTGCTTTAACTCAAGAAGAAT	0.322													False	0	False	17:5257748	0	CAT	5257749	-	CAT	5257748	7	5	63	1	0	1	1	0	0	0	0	0	13040	565	20	0	1088	0	RABEP1	17	5257748	In_Frame_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08		5257748	75937462	71	5322											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			False	0	False	17:7577538	0	T	7577538	C	T	7577538	3	4	63	1	0	0	0	0	1	0	0	0	16464	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	2319790	7577538	73617672	72	5323											
GPR179	440435	broad.mit.edu	37	chr17	36499508	36499508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcgagggcggcctcggcCccctctaggggcacctgcat	14	15	1	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:36499508C>T	ENST00000342292.4	-	1	185	c.165G>A	c.(163-165)ggG>ggA	p.G55G		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	55						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CGGCCTCGGCCCCCTCTAGGG	0.637													False	0	True	17:36499508	0	T	36499508	C	T	36499508	2	4	63	1	0	0	0	0	0	0	0	1	6720	610	22	2		2	GPR179	17	36499508	Silent	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	28921970	36499508	44695702	73	5324											
SMARCE1	6605	broad.mit.edu	37	chr17	38792702	38792702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttcatcagtgagatctCgccacatgccaccaataatc	5	13	4	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:38792702C>T	ENST00000348513.6	-	6	1094	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	SMARCE1_ENST00000578044.1_Missense_Mutation_p.R35Q|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R70Q|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R70Q|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R35Q|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R87Q|SMARCE1_ENST00000544009.1_Missense_Mutation_p.R35Q	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	105					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				AGTGAGATCTCGCCACATGCC	0.408													False	0	False	17:38792702	0	T	38792702	C	T	38792702	3	4	63	1	0	0	0	0	1	0	0	0	14860	884	31	1	945	1	SMARCE1	17	38792702	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	2293194	38792702	42402508	74	5325											
TRIM37	4591	broad.mit.edu	37	chr17	57093064	57093064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccaaagctttacactgcCggtcttcagtttttggcaga	8	10	2	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:57093064C>T	ENST00000376149.3	-	21	2926	c.2117G>A	c.(2116-2118)cGg>cAg	p.R706Q	TRIM37_ENST00000393066.3_Missense_Mutation_p.R828Q|TRIM37_ENST00000393065.2_Missense_Mutation_p.R794Q|TRIM37_ENST00000262294.7_Missense_Mutation_p.R828Q			O94972	TRI37_HUMAN	tripartite motif containing 37	828						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTACACTGCCGGTCTTCAGT	0.502									Mulibrey Nanism				False	0	False	17:57093064	0	T	57093064	C	T	57093064	3	4	63	1	0	0	0	0	1	0	0	0	16594	652	23	1	435	1	TRIM37	17	57093064	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	18300362	57093064	24102146	75	5326											
GPI	2821	broad.mit.edu	37	chr19	34868485	34868485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacattggcattggcggctcCgacctggtgaggagaaaact	13	9	0	2			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:34868485C>T	ENST00000356487.5	+	5	721	c.480C>T	c.(478-480)tcC>tcT	p.S160S	GPI_ENST00000586425.1_Silent_p.S160S|GPI_ENST00000415930.3_Intron	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	160					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTGGCGGCTCCGACCTGGTGA	0.597													False	0	False	19:34868485	0	T	34868485	C	T	34868485	2	4	63	1	0	0	0	0	0	0	0	1	6657	639	23	1		1	GPI	19	34868485	Silent	SNP	C	TCGA-HZ-8001-01A-11D-2201-08		34868485	24260498	76	5327											
MAP3K10	4294	broad.mit.edu	37	chr19	40711866	40711866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggcggcacaggagcagCgcttccaggaggagcagctg	18	11	0	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:40711866C>T	ENST00000253055.3	+	5	1525	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	413					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACAGGAGCAGCGCTTCCAGGA	0.672													False	0	False	19:40711866	0	T	40711866	C	T	40711866	3	4	63	1	0	0	0	0	1	0	0	0	9311	768	27	1	1255	1	MAP3K10	19	40711866	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	5843381	40711866	18417117	77	5328											
NLRP5	126206	broad.mit.edu	37	chr19	56545008	56545008	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgggaggcacccacctgAaggaagaggatgtaaggatg	15	7	0	2			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:56545008A>C	ENST00000390649.3	+	9	2548	c.2548A>C	c.(2548-2550)Aag>Cag	p.K850Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	850						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CACCCACCTGAAGGAAGAGGA	0.478													False	0	True	19:56545008	0	C	56545008	A	C	56545008	3	2	63	1	0	0	0	0	1	0	0	0	10548	247	9	4	2582	4	NLRP5	19	56545008	Missense_Mutation	SNP	A	TCGA-HZ-8001-01A-11D-2201-08	15833142	56545008	2583975	78	5329											
ZNF583	147949	broad.mit.edu	37	chr19	56925441	56925442	+	Frame_Shift_Ins	INS	-	-	CTAAG													tgttggagaactacaggagcINSttggtatcattgggtaagga							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:56925441_56925442insCTAAG	ENST00000333201.9	+	3	333_334	c.123_124insCTAAG	c.(124-126)ttgfs	p.-42fs	ZNF583_ENST00000291598.7_Frame_Shift_Ins_p.-42fs	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ACTACAGGAGCTTGGTATCATT	0.441													False	0	False	19:56925441	0	CTAAG	56925442	-	CTAAG	56925441	7	5	63	1	0	1	1	0	0	0	0	0	18098	796	28	0	129	0	ZNF583	19	56925441	Frame_Shift_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08	380433	56925441	2203542	79	5330	102	2									
ZNF583	147949	broad.mit.edu	37	chr19	56925443	56925444	+	Frame_Shift_Ins	INS	-	-	AAAAA													ttggagaactacaggagcttINSggtatcattgggtaaggaca							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:56925443_56925444insAAAAA	ENST00000333201.9	+	3	335_336	c.125_126insAAAAA	c.(124-129)ttggtafs	p.V43fs	ZNF583_ENST00000291598.7_Frame_Shift_Ins_p.V43fs	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TACAGGAGCTTGGTATCATTGG	0.441													False	0	False	19:56925443	0	AAAAA	56925444	-	AAAAA	56925443	7	5	63	1	0	1	1	0	0	0	0	0	18098	1821	63	0	131	0	ZNF583	19	56925443	Frame_Shift_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08	2	56925443	2203540	80	5331	102	2									
DEFB119	245932	broad.mit.edu	37	chr20	29976959	29976959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaacacagcaccgtttacGatttcggcagcgtatgatgc	11	10	0	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:29976959G>A	ENST00000376315.2	-	2	135	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	52					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACCGTTTACGATTTCGGCAG	0.458													False	0	False	20:29976959	0	A	29976959	G	A	29976959	3	1	63	1	0	0	0	0	1	0	0	0	4436	1058	37	1	376	1	DEFB119	20	29976959	Missense_Mutation	SNP	G	TCGA-HZ-8001-01A-11D-2201-08		29976959	33048561	81	5332											
PTGIS	5740	broad.mit.edu	37	chr20	48130848	48130848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcttgccaaaggatactctCgagctctccgcggacagcag	11	14	2	0	rs13306027		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:48130848C>T	ENST00000244043.4	-	7	969	c.940G>A	c.(940-942)Gag>Aag	p.E314K	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	314					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	AGGATACTCTCGAGCTCTCCG	0.587													False	0	False	20:48130848	0	T	48130848	C	T	48130848	3	4	63	1	0	0	0	0	1	0	0	0	12829	893	31	1	578	1	PTGIS	20	48130848	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	18153889	48130848	14894672	82	5333											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338459	28338459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaggtagcccaccttgccGccgccggagtagagttggtc	14	13	0	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr21:28338459G>A	ENST00000284987.5	-	1	373	c.252C>T	c.(250-252)ggC>ggT	p.G84G		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	84					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCACCTTGCCGCCGCCGGAGT	0.697													False	0	True	21:28338459	0	A	28338459	G	A	28338459	2	1	63	1	0	0	0	0	0	0	0	1	269	1074	38	1		1	ADAMTS5	21	28338459	Silent	SNP	G	TCGA-HZ-8001-01A-11D-2201-08		28338459	19791436	83	5334											
P2RY8	286530	broad.mit.edu	37	chrX	1584907	1584907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccacgctggggagcatcGtccacttgaggacgtcgaag	15	11	0	1			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:1584907G>A	ENST00000381297.4	-	2	755	c.545C>T	c.(544-546)aCg>aTg	p.T182M		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	182						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGGAGCATCGTCCACTTGAG	0.632			T	CRLF2	"B-ALL, Downs associated ALL"								False	0	False	X:1584907	0	A	1584907	G	A	1584907	3	1	63	1	0	0	0	0	1	0	0	0	11423	1145	40	1	538	1	P2RY8	23	1584907	Missense_Mutation	SNP	G	TCGA-HZ-8001-01A-11D-2201-08		1584907	153685653	84	5335											
RPS6KA3	6197	broad.mit.edu	37	chrX	20185851	20185852	+	Frame_Shift_Ins	INS	-	-	TTTCCTTTATGTTTGAGCTAGAATTAGATAGAAATTA													ttactacatacacatactttINSccatcatcatatacctataa							TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:20185851_20185852insTTTCCTTTATGTTTGAGCTAGAATTAGATAGAAATTA	ENST00000379565.3	-	17	1664_1665	c.1457_1458insTAATTTCTATCTAATTCTAGCTCAAACATAAAGGAAA	c.(1456-1458)ggafs	p.-486fs	RPS6KA3_ENST00000544447.1_Frame_Shift_Ins_p.-458fs|RPS6KA3_ENST00000540702.1_Frame_Shift_Ins_p.-457fs|RPS6KA3_ENST00000379548.4_Frame_Shift_Ins_p.-456fs|RPS6KA3_ENST00000479809.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3						axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						ACACATACTTTCCATCATCATA	0.297													False	0	True	X:20185851	0	TTTCCTTTATGTTTGAGCTAGAATTAGATAGAAATTA	20185852	-	TTTCCTTTATGTTTGAGCTAGAATTAGATAGAAATTA	20185851	7	5	63	1	0	1	1	0	0	0	0	0	13731	1770	62	0	788	0	RPS6KA3	23	20185851	Frame_Shift_Ins	INS	-	TCGA-HZ-8001-01A-11D-2201-08	18600944	20185851	135084709	85	5336											
NRK	203447	broad.mit.edu	37	chrX	105153065	105153065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggagggcagccagggtgCtcatgccactacaggcacag	14	12	1	0			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:105153065C>T	ENST00000428173.2	+	13	1738	c.1435C>T	c.(1435-1437)Ctc>Ttc	p.L479F	NRK_ENST00000243300.9_Missense_Mutation_p.L478F			Q7Z2Y5	NRK_HUMAN	Nik related kinase	478	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGCCAGGGTGCTCATGCCACT	0.547										HNSCC(51;0.14)			False	0	False	X:105153065	0	T	105153065	C	T	105153065	3	4	63	1	0	0	0	0	1	0	0	0	10723	797	28	2	1482	2	NRK	23	105153065	Missense_Mutation	SNP	C	TCGA-HZ-8001-01A-11D-2201-08	84967214	105153065	50117495	86	5337											
GPR50	9248	broad.mit.edu	37	chrX	150349558	150349569	+	In_Frame_Del	DEL	CACCACTGGCCA	CACCACTGGCCA	-													gccaccagccaccctaaaccCaccactggccacatcaagcc					rs113250614		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	CACCACTGGCCA	CACCACTGGCCA	-	-	CACCACTGGCCA	CACCACTGGCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:150349558_150349569delCACCACTGGCCA	ENST00000218316.3	+	2	1572_1583	c.1503_1514delCACCACTGGCCA	c.(1501-1515)cccaccactggccac>ccc	p.TTGH502del		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	502	Pro-rich.		Missing (lower fasting circulating triglyceride levels).		cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.T502_H505delTTGH(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTAAACCCACCACTGGCCACATCAAGCCA	0.608													False	1	False	X:150349558	0	-	150349569	CACCACTGGCCA	-	150349558	7	5	63	1	0	1	0	1	0	0	0	0	6743	581	21	0	1509	0	GPR50	23	150349558	In_Frame_Del	DEL	CACCACTGGCCA	TCGA-HZ-8001-01A-11D-2201-08	45196493	150349558	4921002	87	5338											
MECP2	4204	broad.mit.edu	37	chrX	153297998	153297998	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggtcctggtcttctgActtttcttccctgaagtgtt	10	10	3	2			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:153297998A>G	ENST00000303391.6	-	3	286	c.37T>C	c.(37-39)Tca>Cca	p.S13P	MECP2_ENST00000453960.2_Missense_Mutation_p.S25P|MECP2_ENST00000460227.1_5'UTR|MECP2_ENST00000407218.1_Missense_Mutation_p.S13P	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	13					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCTTCTGACTTTTCTTCC	0.473													False	0	False	X:153297998	0	G	153297998	A	G	153297998	3	3	63	1	0	0	0	0	1	0	0	0	9490	275	10	4	1431	4	MECP2	23	153297998	Missense_Mutation	SNP	A	TCGA-HZ-8001-01A-11D-2201-08	2948440	153297998	1972562	88	5339											
RPL11	6135	broad.mit.edu	37	chr1	24022341	24022341	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaagcgcaggacaggctgCattggggccaaacacagaat	13	9	0	2			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:24022341C>A	ENST00000374550.3	+	5	495	c.450C>A	c.(448-450)tgC>tgA	p.C150*	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	150					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GGACAGGCTGCATTGGGGCCA	0.517													False	0	False	1:24022341	0	A	24022341	C	A	24022341	4	1	64	1	0	0	0	0	0	1	0	0	13636	718	25	3	468	3	RPL11	1	24022341	Nonsense_Mutation	SNP	C	TCGA-HZ-8002-01A-11D-2201-08		24022341	225228280	1	5340											
RPS6KA1	6195	broad.mit.edu	37	chr1	26872494	26872495	+	In_Frame_Ins	INS	-	-	AAT													ccagacctctctgcctgtccINSctggccctggctctggcccc							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:26872494_26872495insAAT	ENST00000531382.1	+	1	152_153	c.103_104insAAT	c.(103-105)cct>cAATct	p.35_35P>QS	RPS6KA1_ENST00000374166.4_Intron|RPS6KA1_ENST00000374168.2_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000526792.1_Intron	NM_001006665.1	NP_001006666.1	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	26					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCTGCCTGTCCCTGGCCCTGGC	0.683													False	0	True	1:26872494	0	AAT	26872495	-	AAT	26872494	7	5	64	1	0	1	1	0	0	0	0	0	13729	623	22	0	221	0	RPS6KA1	1	26872494	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	2850153	26872494	222378127	2	5341											
ZSWIM5	57643	broad.mit.edu	37	chr1	45553906	45553907	+	Frame_Shift_Ins	INS	-	-	TAGGGACC													tactgtgccactcagatgaaINSagcctaaggaaacacaaaag							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:45553906_45553907insTAGGGACC	ENST00000359600.5	-	2	803_804	c.598_599insGGTCCCTA	c.(598-600)tttfs	p.F200fs	ZSWIM5_ENST00000464588.1_5'UTR	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	200							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ACTCAGATGAAAGCCTAAGGAA	0.356													False	0	True	1:45553906	0	TAGGGACC	45553907	-	TAGGGACC	45553906	7	5	64	1	0	1	1	0	0	0	0	0	18326	14	1	0	3010	0	ZSWIM5	1	45553906	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	18681412	45553906	203696715	3	5342											
STIL	6491	broad.mit.edu	37	chr1	47746438	47746439	+	Frame_Shift_Ins	INS	-	-	TGTCCAGTCT													gttgggactgcggggcaagaINSgaagactgcctagaattaag							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:47746438_47746439insTGTCCAGTCT	ENST00000360380.3	-	13	2054_2055	c.1691_1692insAGACTGGACA	c.(1690-1692)tctfs	p.-564fs	STIL_ENST00000337817.5_Frame_Shift_Ins_p.-564fs|STIL_ENST00000243182.6_Frame_Shift_Ins_p.-564fs|STIL_ENST00000371877.3_Frame_Shift_Ins_p.-564fs|STIL_ENST00000396221.2_Frame_Shift_Ins_p.-564fs			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus						cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GCGGGGCAAGAGAAGACTGCCT	0.426													False	0	False	1:47746438	0	TGTCCAGTCT	47746439	-	TGTCCAGTCT	47746438	7	5	64	1	0	1	1	0	0	0	0	0	15364	291	11	0	2198	0	STIL	1	47746438	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	2192532	47746438	201504183	4	5343											
LEPR	3953	broad.mit.edu	37	chr1	66036155	66036155	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtctttttaatatcctaacaGaatttatttatgtgataact	4	5	1	2			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:66036155G>T	ENST00000349533.6	+	4	225		c.e4-1		LEPR_ENST00000406510.3_Splice_Site|LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000371058.1_Splice_Site|LEPR_ENST00000344610.8_Splice_Site|LEPR_ENST00000371059.3_Splice_Site|LEPR_ENST00000462765.1_Splice_Site	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor						energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCTAACAGAATTTATTTA	0.299													False	0	False	1:66036155	0	T	66036155	G	T	66036155	5	4	64	1	0	0	0	0	0	0	1	0	8779	956	33	3	46	3	LEPR	1	66036155	Splice_Site	SNP	G	TCGA-HZ-8002-01A-11D-2201-08	18289717	66036155	183214466	5	5344											
NEXN	91624	broad.mit.edu	37	chr1	78383958	78383959	+	Splice_Site	INS	-	-	TTCCTAAAA													tagcaaaaagggctgaacagINSgtatcactgaagattaagtt					rs112542707		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:78383958_78383959insTTCCTAAAA	ENST00000334785.7	+	5	631	c.447_447insTTCCTAAAA	c.(448-450)att>atTTCCTAAAAt	p.150_151insS*N	NEXN_ENST00000294624.8_Splice_Site_p.149_150insNS*|NEXN_ENST00000457030.1_Splice_Site_p.150_150E>DS*K|NEXN_ENST00000330010.8_Splice_Site_p.86_87insS*N	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	150	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GGGCTGAACAGGTATCACTGAA	0.337													False	0	False	1:78383958	0	TTCCTAAAA	78383959	-	TTCCTAAAA	78383958	8	5	64	1	0	1	1	0	0	0	1	0	10423	1014	35	0	461	0	NEXN	1	78383958	Splice_Site	INS	-	TCGA-HZ-8002-01A-11D-2201-08	12347803	78383958	170866663	6	5345											
LPPR4	0	broad.mit.edu	37	chr1	99772446	99772446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccatttcttcttcccgCgactccaccctgcggagaaa	7	16	2	1			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:99772446C>T	ENST00000370185.3	+	7	2669	c.2172C>T	c.(2170-2172)cgC>cgT	p.R724R	LPPR4_ENST00000457765.1_Silent_p.R666R|LPPR4_ENST00000370184.1_Silent_p.R566R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		724							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTTCTTCCCGCGACTCCACCC	0.507													False	0	False	1:99772446	0	T	99772446	C	T	99772446	2	4	64	1	0	0	0	0	0	0	0	1	8989	755	27	1		1	LPPR4	1	99772446	Silent	SNP	C	TCGA-HZ-8002-01A-11D-2201-08	21388488	99772446	149478175	7	5346											
KCNA10	3744	broad.mit.edu	37	chr1	111060380	111060380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaagaccctcaccaggcGgatgatcctcaggatggcca	13	13	2	2			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:111060380G>A	ENST00000369771.2	-	1	1417	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	344						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.R344C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTCACCAGGCGGATGATCCTC	0.577													False	0	False	1:111060380	0	A	111060380	G	A	111060380	3	1	64	1	0	0	0	0	1	0	0	0	8052	1116	39	1	509	1	KCNA10	1	111060380	Missense_Mutation	SNP	G	TCGA-HZ-8002-01A-11D-2201-08	11287934	111060380	138190241	8	5347											
PBXIP1	57326	broad.mit.edu	37	chr1	154920764	154920764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggccggcctcccggcccCgccgtctccgcagaccctcc	12	22	1	1			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:154920764C>T	ENST00000368463.3	-	6	559	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368460.3_Missense_Mutation_p.R163Q|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R134Q|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R8Q	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	163	Poly-Arg.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCCGGCCCCGCCGTCTCCG	0.687													False	0	True	1:154920764	0	T	154920764	C	T	154920764	3	4	64	1	0	0	0	0	1	0	0	0	11564	652	23	1	1731	1	PBXIP1	1	154920764	Missense_Mutation	SNP	C	TCGA-HZ-8002-01A-11D-2201-08	43860384	154920764	94329857	9	5348											
TAGLN2	8407	broad.mit.edu	37	chr1	159888604	159888604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggatcagaggatctggcGtggcatcccgtagccagtca	15	10	3	1			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:159888604G>A	ENST00000368097.4	-	5	896	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	TAGLN2_ENST00000368096.1_Missense_Mutation_p.R217C|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.R196C	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	196					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGATCTGGCGTGGCATCCCG	0.552													False	0	False	1:159888604	0	A	159888604	G	A	159888604	3	1	64	1	0	0	0	0	1	0	0	0	15621	1145	40	1	17	1	TAGLN2	1	159888604	Missense_Mutation	SNP	G	TCGA-HZ-8002-01A-11D-2201-08	4967840	159888604	89362017	10	5349											
ZNF678	339500	broad.mit.edu	37	chr1	227843311	227843312	+	Frame_Shift_Ins	INS	-	-	CTTG													ccttagtaagcataagagaaINSttcatactgaagagaaaccc							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:227843311_227843312insCTTG	ENST00000343776.4	+	4	1705_1706	c.1360_1361insCTTG	c.(1360-1362)attfs	p.I454fs	ZNF678_ENST00000397097.3_Frame_Shift_Ins_p.I509fs|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	509					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GCATAAGAGAATTCATACTGAA	0.366													False	0	False	1:227843311	0	CTTG	227843312	-	CTTG	227843311	7	5	64	1	0	1	1	0	0	0	0	0	18168	101	4	0	1539	0	ZNF678	1	227843311	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	67954707	227843311	21407310	11	5350											
HEATR5B	54497	broad.mit.edu	37	chr2	37229687	37229688	+	Frame_Shift_Ins	INS	-	-	TTGAT													ctccttctcccaatacggtaINScaggcctctttttccatatc							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:37229687_37229688insTTGAT	ENST00000233099.5	-	32	5173_5174	c.5078_5079insATCAA	c.(5077-5079)tgtfs	p.C1693fs	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1693							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCAATACGGTACAGGCCTCTTT	0.386													False	0	False	2:37229687	0	TTGAT	37229688	-	TTGAT	37229687	7	5	64	1	0	1	1	0	0	0	0	0	7079	389	14	0	1156	0	HEATR5B	2	37229687	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08		37229687	205969686	12	5351											
MSH2	4436	broad.mit.edu	37	chr2	47637485	47637486	+	Frame_Shift_Ins	INS	-	-	C													tttacccggaggagagactgINSctggagacatggggaaactg					rs141718852		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:47637485_47637486insC	ENST00000406134.1	+	3	681_682	c.619_620insC	c.(619-621)gctfs	p.A207fs	MSH2_ENST00000543555.1_Frame_Shift_Ins_p.A141fs|MSH2_ENST00000233146.2_Frame_Shift_Ins_p.A207fs			P43246	MSH2_HUMAN	mutS homolog 2	207					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGAGAGACTGCTGGAGACATG	0.45			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	1	False	2:47637485	0	C	47637486	-	C	47637485	7	5	64	1	0	1	1	0	0	0	0	0	9937	1319	46	0	629	0	MSH2	2	47637485	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	10407798	47637485	195561888	13	5352											
REL	5966	broad.mit.edu	37	chr2	61128209	61128210	+	In_Frame_Ins	INS	-	-	ATATAGCAATACTGAAGTTAT													aataaaggcaggaatcaatcINScattcaatggtaagtatgtt							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:61128209_61128210insATATAGCAATACTGAAGTTAT	ENST00000295025.7	+	4	705_706	c.385_386insATATAGCAATACTGAAGTTAT	c.(385-387)cca>cATATAGCAATACTGAAGTTATca	p.129_129P>HIAILKLS	REL_ENST00000394479.3_In_Frame_Ins_p.129_129P>HIAILKLS	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	129	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGGAATCAATCCATTCAATGGT	0.257			A		Hodgkin Lymphoma								False	0	True	2:61128209	0	ATATAGCAATACTGAAGTTAT	61128210	-	ATATAGCAATACTGAAGTTAT	61128209	7	5	64	1	0	1	1	0	0	0	0	0	13294	855	30	0	399	0	REL	2	61128209	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	13490724	61128209	182071164	14	5353											
AFTPH	54812	broad.mit.edu	37	chr2	64779684	64779685	+	In_Frame_Ins	INS	-	-	TCCTCT													aaaactgaagaaaaacttgaINScttacttacttctaaatgtg							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:64779684_64779685insTCCTCT	ENST00000238856.4	+	2	1390_1391	c.1076_1077insTCCTCT	c.(1075-1080)gactta>gaTCCTCTctta	p.359_360DL>DPLL	AFTPH_ENST00000409183.1_5'UTR|AFTPH_ENST00000409933.1_In_Frame_Ins_p.359_360DL>DPLL|AFTPH_ENST00000238855.7_In_Frame_Ins_p.359_360DL>DPLL|AFTPH_ENST00000422803.1_In_Frame_Ins_p.359_360DL>DPLL	NM_001002243.2|NM_017657.4	NP_001002243.1|NP_060127.3	Q6ULP2	AFTIN_HUMAN	aftiphilin	359					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GAAAAACTTGACTTACTTACTT	0.361													False	0	True	2:64779684	0	TCCTCT	64779685	-	TCCTCT	64779684	7	5	64	1	0	1	1	0	0	0	0	0	364	275	10	0	1078	0	AFTPH	2	64779684	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	3651475	64779684	178419689	15	5354											
MYO7B	4648	broad.mit.edu	37	chr2	128350393	128350393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaccgggagctgtgcctgCggcagctgcgatactcgggc	16	13	0	0			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:128350393C>T	ENST00000389524.4	+	17	2070	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	MYO7B_ENST00000409816.2_Missense_Mutation_p.R673W|MYO7B_ENST00000428314.1_Missense_Mutation_p.R673W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	673	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCTGTGCCTGCGGCAGCTGCG	0.672													False	0	False	2:128350393	0	T	128350393	C	T	128350393	3	4	64	1	0	0	0	0	1	0	0	0	10150	759	27	1	2079	1	MYO7B	2	128350393	Missense_Mutation	SNP	C	TCGA-HZ-8002-01A-11D-2201-08	63570709	128350393	114848980	16	5355											
SP3	6670	broad.mit.edu	37	chr2	174774896	174774897	+	Frame_Shift_Ins	INS	-	-	ACAGC													ctgctagagtgaatacctttINStttattctggtgtgttttaa							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:174774896_174774897insACAGC	ENST00000310015.6	-	7	2648_2649	c.2118_2119insGCTGT	c.(2116-2121)aaaaaafs	p.K707fs	SP3_ENST00000418194.2_Frame_Shift_Ins_p.K639fs|SP3_ENST00000455789.2_Frame_Shift_Ins_p.K654fs	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	707					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGAATACCTTTTTTATTCTGGT	0.391													False	0	True	2:174774896	0	ACAGC	174774897	-	ACAGC	174774896	7	5	64	1	0	1	1	0	0	0	0	0	15045	1850	64	0	230	0	SP3	2	174774896	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	46424503	174774896	68424477	17	5356											
AGPS	8540	broad.mit.edu	37	chr2	178402901	178402902	+	Frame_Shift_Ins	INS	-	-	GTGACCATGAG													gtggaccccaataacatcttINStggaaacagaaaccttttat							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:178402901_178402902insGTGACCATGAG	ENST00000264167.4	+	20	2101_2102	c.1955_1956insGTGACCATGAG	c.(1954-1959)tttggafs	p.FG652fs	AGPS_ENST00000409888.1_Frame_Shift_Ins_p.FG183fs	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	652					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AATAACATCTTTGGAAACAGAA	0.342													False	0	True	2:178402901	0	GTGACCATGAG	178402902	-	GTGACCATGAG	178402901	7	5	64	1	0	1	1	0	0	0	0	0	394	1841	64	0	2033	0	AGPS	2	178402901	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	3628005	178402901	64796472	18	5357											
COL5A2	1290	broad.mit.edu	37	chr2	189927907	189927907	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgtactcacactgctaccTttggggcctggaaggcccat	10	13	1	0			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:189927907T>A	ENST00000374866.3	-	27	2134	c.1860A>T	c.(1858-1860)aaA>aaT	p.K620N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	620					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACTGCTACCTTTGGGGCCTG	0.502													False	0	True	2:189927907	0	A	189927907	T	A	189927907	3	1	64	1	0	0	0	0	1	0	0	0	3720	1606	56	5	2751	5	COL5A2	2	189927907	Missense_Mutation	SNP	T	TCGA-HZ-8002-01A-11D-2201-08	11525006	189927907	53271466	19	5358											
SGOL2	151246	broad.mit.edu	37	chr2	201436687	201436688	+	Frame_Shift_Ins	INS	-	-	CTCTT													ttctagacagacatttgtgaINSttcacaaattagaaaaagat							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:201436687_201436688insCTCTT	ENST00000357799.4	+	7	1716_1717	c.1618_1619insCTCTT	c.(1618-1620)attfs	p.I540fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	540					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GACATTTGTGATTCACAAATTA	0.332													False	0	False	2:201436687	0	CTCTT	201436688	-	CTCTT	201436687	7	5	64	1	0	1	1	0	0	0	0	0	14298	333	12	0	1640	0	SGOL2	2	201436687	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	11508780	201436687	41762686	20	5359											
AGAP1	116987	broad.mit.edu	37	chr2	236957825	236957825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggatgactggccagtcGagctcatcaaggtgatgtca	12	10	3	2			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:236957825G>A	ENST00000304032.8	+	16	2594	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	AGAP1_ENST00000428334.2_Missense_Mutation_p.E511K|AGAP1_ENST00000336665.5_Missense_Mutation_p.E619K|AGAP1_ENST00000409538.1_Missense_Mutation_p.E884K	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTGGCCAGTCGAGCTCATCAA	0.582													False	0	False	2:236957825	0	A	236957825	G	A	236957825	3	1	64	1	0	0	0	0	1	0	0	0	366	1059	37	1	2076	1	AGAP1	2	236957825	Missense_Mutation	SNP	G	TCGA-HZ-8002-01A-11D-2201-08	35521138	236957825	6241548	21	5360											
COLQ	8292	broad.mit.edu	37	chr3	15495398	15495398	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcacagtcctccacaccCtcatgccggtgaccatctcc	6	20	3	1			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:15495398C>A	ENST00000383788.5	-	16	1361	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D	COLQ_ENST00000383787.2_Missense_Mutation_p.E403D|COLQ_ENST00000383786.5_Missense_Mutation_p.E378D|COLQ_ENST00000383781.4_Missense_Mutation_p.E402D|COLQ_ENST00000435459.2_Missense_Mutation_p.E402D|COLQ_ENST00000603808.1_Missense_Mutation_p.E413D|COLQ_ENST00000383785.2_3'UTR	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	412					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCTCCACACCCTCATGCCGGT	0.587													False	0	True	3:15495398	0	A	15495398	C	A	15495398	3	1	64	1	0	0	0	0	1	0	0	0	3736	680	24	3	139	3	COLQ	3	15495398	Missense_Mutation	SNP	C	TCGA-HZ-8002-01A-11D-2201-08		15495398	182527032	22	5361											
SPEF2	79925	broad.mit.edu	37	chr5	35704744	35704745	+	In_Frame_Ins	INS	-	-	TTTAATTAGATAATTTTC													aggatggagaccaaaatttaINSagagaccagatacaacatag							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:35704744_35704745insTTTAATTAGATAATTTTC	ENST00000440995.2	+	17	2472_2473	c.2472_2473insTTTAATTAGATAATTTTC	c.(2473-2475)aga>TTTAATTAGATAATTTTCaga	p.824_825insFN*IIF	SPEF2_ENST00000356031.3_In_Frame_Ins_p.829_830insFN*IIF|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_In_Frame_Ins_p.824_825insFN*IIF			Q9C093	SPEF2_HUMAN	sperm flagellar 2	829					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCAAAATTTAAGAGACCAGAT	0.342													False	0	False	5:35704744	0	TTTAATTAGATAATTTTC	35704745	-	TTTAATTAGATAATTTTC	35704744	7	5	64	1	0	1	1	0	0	0	0	0	15117	359	13	0	2574	0	SPEF2	5	35704744	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08		35704744	145210516	23	5362											
NIPBL	25836	broad.mit.edu	37	chr5	37049358	37049359	+	Frame_Shift_Ins	INS	-	-	ATTTCAAAATTAG													tacgccactttgccctaaatINSgtcattgcattgactctaaa							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:37049358_37049359insATTTCAAAATTAG	ENST00000282516.8	+	40	7408_7409	c.6909_6910insATTTCAAAATTAG	c.(6910-6912)gtcfs	p.V2304fs	NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.V2304fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2304					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTGCCCTAAATGTCATTGCATT	0.401													False	0	False	5:37049358	0	ATTTCAAAATTAG	37049359	-	ATTTCAAAATTAG	37049358	7	5	64	1	0	1	1	0	0	0	0	0	10496	1461	51	0	7063	0	NIPBL	5	37049358	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	1344614	37049358	143865902	24	5363											
NUP155	9631	broad.mit.edu	37	chr5	37292136	37292137	+	Frame_Shift_Ins	INS	-	-	AAGAATGTAAGAACAA													aggcagagatttgtaaatctINStctcctacaacgaaaaagac							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:37292136_37292137insAAGAATGTAAGAACAA	ENST00000231498.3	-	35	4244_4245	c.4041_4042insTTGTTCTTACATTCTT	c.(4039-4044)agaagafs	p.R1348fs	NUP155_ENST00000381843.2_Frame_Shift_Ins_p.R1289fs|NUP155_ENST00000513532.1_Frame_Shift_Ins_p.R1284fs|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1348					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTGTAAATCTTCTCCTACAAC	0.406													False	0	False	5:37292136	0	AAGAATGTAAGAACAA	37292137	-	AAGAATGTAAGAACAA	37292136	7	5	64	1	0	1	1	0	0	0	0	0	10824	1617	56	0	137	0	NUP155	5	37292136	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	242778	37292136	143623124	25	5364											
CMYA5	202333	broad.mit.edu	37	chr5	79025540	79025541	+	In_Frame_Ins	INS	-	-	ATTTCTTTAATTACA													agagtccctaaccttaatgtINStcagtcatgaagatcaaaag							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:79025540_79025541insATTTCTTTAATTACA	ENST00000446378.2	+	2	983_984	c.952_953insATTTCTTTAATTACA	c.(952-954)ttc>tATTTCTTTAATTACAtc	p.318_318F>YFFNYI		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	318						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACCTTAATGTTCAGTCATGAA	0.431													False	0	False	5:79025540	0	ATTTCTTTAATTACA	79025541	-	ATTTCTTTAATTACA	79025540	7	5	64	1	0	1	1	0	0	0	0	0	3613	1725	60	0	958	0	CMYA5	5	79025540	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	41733404	79025540	101889720	26	5365											
SLCO6A1	133482	broad.mit.edu	37	chr5	101755631	101755632	+	Translation_Start_Site	INS	-	-	TGTTCATGTAATT													tcacagatgtaaccattataINSaatctcataagggctttaca							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:101755631_101755632insTGTTCATGTAATT	ENST00000514551.1	-	0	821_822				SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000506729.1_Frame_Shift_Ins_p.F457fs|SLCO6A1_ENST00000389019.3_Frame_Shift_Ins_p.F395fs|SLCO6A1_ENST00000379807.3_Frame_Shift_Ins_p.F457fs			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1							integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TAACCATTATAAATCTCATAAG	0.366													False	0	True	5:101755631	0	TGTTCATGTAATT	101755632	-	TGTTCATGTAATT	101755631	6	5	64	1	0	1	1	0	0	0	0	0	14812	359	13	0		0	SLCO6A1	5	101755631	Translation_Start_Site	INS	-	TCGA-HZ-8002-01A-11D-2201-08	22730091	101755631	79159629	27	5366											
HMMR	3161	broad.mit.edu	37	chr5	162900464	162900465	+	Frame_Shift_Ins	INS	-	-	ATGACTGAGTATTAAAAAAATAAGG													gaaagagaagaatgatgaaaINSttttaagccttaagcagtct							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:162900464_162900465insATGACTGAGTATTAAAAAAATAAGG	ENST00000416990.2	+	9	957_958	c.460_461insATGACTGAGTATTAAAAAAATAAGG	c.(460-462)attfs	p.I154fs	HMMR_ENST00000393915.4_Frame_Shift_Ins_p.I269fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.I253fs|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.I268fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.I182fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	268						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GAATGATGAAATTTTAAGCCTT	0.307													False	0	True	5:162900464	0	ATGACTGAGTATTAAAAAAATAAGG	162900465	-	ATGACTGAGTATTAAAAAAATAAGG	162900464	7	5	64	1	0	1	1	0	0	0	0	0	7289	101	4	0	839	0	HMMR	5	162900464	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	61144833	162900464	18014796	28	5367											
DOCK2	1794	broad.mit.edu	37	chr5	169098083	169098083	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttctcccaccttaaatagaAatactgagaacatcattcct	3	11	2	2			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:169098083A>T	ENST00000256935.8	+	5	306	c.226A>T	c.(226-228)Aat>Tat	p.N76Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	76					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTAAATAGAAATACTGAGAA	0.443													False	0	True	5:169098083	0	T	169098083	A	T	169098083	5	4	64	1	0	0	0	0	0	0	1	0	4717	28	1	5	244	5	DOCK2	5	169098083	Splice_Site	SNP	A	TCGA-HZ-8002-01A-11D-2201-08	6197619	169098083	11817177	29	5368											
PGBD1	84547	broad.mit.edu	37	chr6	28269791	28269792	+	In_Frame_Ins	INS	-	-	AAAATA													atgctgataacgaagaaatcINScctcagataagtcaaccatc							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:28269791_28269792insAAAATA	ENST00000405948.2	+	7	2580_2581	c.2160_2161insAAAATA	c.(2161-2163)cct>AAAATAcct	p.720_721insKI	PGBD1_ENST00000259883.3_In_Frame_Ins_p.720_721insKI	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	720					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACGAAGAAATCCCTCAGATAAG	0.416													False	0	True	6:28269791	0	AAAATA	28269792	-	AAAATA	28269791	7	5	64	1	0	1	1	0	0	0	0	0	11849	845	30	0	2182	0	PGBD1	6	28269791	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08		28269791	142845276	30	5369	103	2									
PGBD1	84547	broad.mit.edu	37	chr6	28269793	28269794	+	In_Frame_Ins	INS	-	-	CTCTCT													gctgataacgaagaaatcccINStcagataagtcaaccatcca							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:28269793_28269794insCTCTCT	ENST00000405948.2	+	7	2582_2583	c.2162_2163insCTCTCT	c.(2161-2166)cctcag>ccCTCTCTtcag	p.721_722PQ>PSLQ	PGBD1_ENST00000259883.3_In_Frame_Ins_p.721_722PQ>PSLQ	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	721					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAAGAAATCCCTCAGATAAGTC	0.411													False	0	True	6:28269793	0	CTCTCT	28269794	-	CTCTCT	28269793	7	5	64	1	0	1	1	0	0	0	0	0	11849	681	24	0	2184	0	PGBD1	6	28269793	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	2	28269793	142845274	31	5370	103	2									
RIMS1	0	broad.mit.edu	37	chr6	72968815	72968816	+	Splice_Site	INS	-	-	CAGACAGACTAAAGTGAAGGAACTAAGAGTAA													atttatcagaacaagacaggINStatttgtcaaaattatgatc							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:72968815_72968816insCAGACAGACTAAAGTGAAGGAACTAAGAGTAA	ENST00000264839.7	+	18	3053		c.e18+1		RIMS1_ENST00000521978.1_Splice_Site|RIMS1_ENST00000520567.1_Splice_Site|RIMS1_ENST00000518273.1_Splice_Site|RIMS1_ENST00000348717.5_Splice_Site|RIMS1_ENST00000517960.1_Splice_Site|RIMS1_ENST00000425662.2_Splice_Site|RIMS1_ENST00000523963.1_Splice_Site|RIMS1_ENST00000401910.3_Splice_Site|RIMS1_ENST00000517827.1_Splice_Site|RIMS1_ENST00000538414.1_Splice_Site|RIMS1_ENST00000522291.1_Splice_Site|RIMS1_ENST00000491071.2_Splice_Site			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AACAAGACAGGTATTTGTCAAA	0.356													False	0	False	6:72968815	0	CAGACAGACTAAAGTGAAGGAACTAAGAGTAA	72968816	-	CAGACAGACTAAAGTGAAGGAACTAAGAGTAA	72968815	8	5	64	1	0	1	1	0	0	0	1	0	13446	1275	44	0	3287	0	RIMS1	6	72968815	Splice_Site	INS	-	TCGA-HZ-8002-01A-11D-2201-08	44699022	72968815	98146252	32	5371											
CASP8AP2	9994	broad.mit.edu	37	chr6	90572805	90572806	+	RNA	INS	-	-	GTTATTTCATTCTTGG													ccatgcatcagtgggaaaatINSacacctttaaaagcagaaag							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:90572805_90572806insGTTATTTCATTCTTGG	ENST00000551025.1	+	0	2814_2815							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGTGGGAAAATACACCTTTAAA	0.342													False	0	False	6:90572805	0	GTTATTTCATTCTTGG	90572806	-	GTTATTTCATTCTTGG	90572805	6	5	64	0	1	1	1	0	0	0	0	0	2698	1403	49	0		0	CASP8AP2	6	90572805	RNA	INS	-	TCGA-HZ-8002-01A-11D-2201-08	17603990	90572805	80542262	33	5372											
ASCC3	10973	broad.mit.edu	37	chr6	101053522	101053523	+	Frame_Shift_Ins	INS	-	-	AGAAGAATTTAATATAATGTGAAACAATATAATTATCACTTTA													atgaactagaattacagcttINStgccttggtcatcgaactgc							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:101053522_101053523insAGAAGAATTTAATATAATGTGAAACAATATAATTATCACTTTA	ENST00000369162.2	-	33	5442_5443	c.5098_5099insTAAAGTGATAATTATATTGTTTCACATTATATTAAATTCTTCT	c.(5098-5100)aaafs	p.K1700fs		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1700	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATTACAGCTTTGCCTTGGTCA	0.361													False	0	True	6:101053522	0	AGAAGAATTTAATATAATGTGAAACAATATAATTATCACTTTA	101053523	-	AGAAGAATTTAATATAATGTGAAACAATATAATTATCACTTTA	101053522	7	5	64	1	0	1	1	0	0	0	0	0	1037	1841	64	0	1549	0	ASCC3	6	101053522	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	10480717	101053522	70061545	34	5373											
GPR126	0	broad.mit.edu	37	chr6	142691373	142691373	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgcttaccaggtatctgTtgcaaaaagcatctctattc	7	9	2	1			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:142691373T>C	ENST00000230173.6	+	4	988	c.512T>C	c.(511-513)gTt>gCt	p.V171A	GPR126_ENST00000367609.3_Missense_Mutation_p.V171A|GPR126_ENST00000296932.8_Missense_Mutation_p.V171A|GPR126_ENST00000367608.2_Missense_Mutation_p.V171A|GPR126_ENST00000545477.1_Intron	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	171	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CAGGTATCTGTTGCAAAAAGC	0.423													False	0	False	6:142691373	0	C	142691373	T	C	142691373	3	2	64	1	0	0	0	0	1	0	0	0	6686	1725	60	4	526	4	GPR126	6	142691373	Missense_Mutation	SNP	T	TCGA-HZ-8002-01A-11D-2201-08	41637851	142691373	28423694	35	5374											
FNDC1	84624	broad.mit.edu	37	chr6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-													agcagtcggtctcagccgagGacgacgaggaggaggacgcg							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65													False	2	False	6:159655079	0	-	159655081	GAC	-	159655079	7	5	64	1	0	1	0	1	0	0	0	0	6008	1174	41	0	3577	0	FNDC1	6	159655079	In_Frame_Del	DEL	GAC	TCGA-HZ-8002-01A-11D-2201-08	16963706	159655079	11459988	36	5375											
TAX1BP1	8887	broad.mit.edu	37	chr7	27825110	27825111	+	Splice_Site	INS	-	-	TTTAAAGTTTTAAAATTTTTATTG													gaaaaggaactttataaggtINSaatttattttttaccatatc							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:27825110_27825111insTTTAAAGTTTTAAAATTTTTATTG	ENST00000396319.2	+	7	940		c.e7+2		TAX1BP1_ENST00000409980.1_Splice_Site|TAX1BP1_ENST00000543117.1_Splice_Site|TAX1BP1_ENST00000433216.2_Splice_Site|TAX1BP1_ENST00000265393.6_Splice_Site	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1						anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CTTTATAAGGTAATTTATTTTT	0.376													False	0	True	7:27825110	0	TTTAAAGTTTTAAAATTTTTATTG	27825111	-	TTTAAAGTTTTAAAATTTTTATTG	27825110	8	5	64	1	0	1	1	0	0	0	1	0	15676	1652	57	0	876	0	TAX1BP1	7	27825110	Splice_Site	INS	-	TCGA-HZ-8002-01A-11D-2201-08		27825110	131313553	37	5376											
RNF32	140545	broad.mit.edu	37	chr7	156437351	156437352	+	Frame_Shift_Ins	INS	-	-	T													taaaaagagatacaaaggcaINSataatagatactggacttaa							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:156437351_156437352insT	ENST00000392741.2	+	2	262_263	c.174_175insT	c.(175-177)atafs	p.I59fs	RNF32_ENST00000432459.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000343665.4_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000405335.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.I59fs			Q9H0A6	RNF32_HUMAN	ring finger protein 32	59						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATACAAAGGCAATAATAGATAC	0.361													False	0	False	7:156437351	0	T	156437352	-	T	156437351	7	5	64	1	0	1	1	0	0	0	0	0	13567	117	5	0	180	0	RNF32	7	156437351	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	128612241	156437351	2701312	38	5377	104	2									
RNF32	140545	broad.mit.edu	37	chr7	156437352	156437353	+	Frame_Shift_Ins	INS	-	-	TTTAGAGGAGTATTATG													aaaaagagatacaaaggcaaINStaatagatactggacttaaa							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:156437352_156437353insTTTAGAGGAGTATTATG	ENST00000392741.2	+	2	263_264	c.175_176insTTTAGAGGAGTATTATG	c.(175-177)atafs	p.-59fs	RNF32_ENST00000432459.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000343665.4_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000405335.1_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.-59fs			Q9H0A6	RNF32_HUMAN	ring finger protein 32							aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TACAAAGGCAATAATAGATACT	0.361													False	0	False	7:156437352	0	TTTAGAGGAGTATTATG	156437353	-	TTTAGAGGAGTATTATG	156437352	7	5	64	1	0	1	1	0	0	0	0	0	13567	101	4	0	181	0	RNF32	7	156437352	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	1	156437352	2701311	39	5378	104	2									
DOCK5	80005	broad.mit.edu	37	chr8	25182975	25182976	+	Frame_Shift_Ins	INS	-	-	AATTT													agcttcaagcatccaaaaacINSctggtcaccttcaccccaag							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:25182975_25182976insAATTT	ENST00000276440.7	+	18	1859_1860	c.1815_1816insAATTT	c.(1816-1818)ctgfs	p.L606fs		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	606	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CATCCAAAAACCTGGTCACCTT	0.46													False	0	False	8:25182975	0	AATTT	25182976	-	AATTT	25182975	7	5	64	1	0	1	1	0	0	0	0	0	4720	506	18	0	1885	0	DOCK5	8	25182975	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08		25182975	121181047	40	5379	105	2									
DOCK5	80005	broad.mit.edu	37	chr8	25182976	25182977	+	Frame_Shift_Ins	INS	-	-	TATCA													gcttcaagcatccaaaaaccINStggtcaccttcaccccaagc							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:25182976_25182977insTATCA	ENST00000276440.7	+	18	1860_1861	c.1816_1817insTATCA	c.(1816-1818)ctgfs	p.-606fs		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATCCAAAAACCTGGTCACCTTC	0.46													False	0	False	8:25182976	0	TATCA	25182977	-	TATCA	25182976	7	5	64	1	0	1	1	0	0	0	0	0	4720	680	24	0	1886	0	DOCK5	8	25182976	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	1	25182976	121181046	41	5380	105	2									
WRN	7486	broad.mit.edu	37	chr8	30938664	30938665	+	In_Frame_Ins	INS	-	-	TTC													gaacgaaaagaagatggattINStgaagatggagtagaagaca							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:30938664_30938665insTTC	ENST00000298139.5	+	9	1370_1371	c.1121_1122insTTC	c.(1120-1125)tttgaa>ttTTCtgaa	p.374_375FE>FSE		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	374					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAAGATGGATTTGAAGATGGAG	0.361			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				False	0	True	8:30938664	0	TTC	30938665	-	TTC	30938664	7	5	64	1	0	1	1	0	0	0	0	0	17486	1841	64	0	1151	0	WRN	8	30938664	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	5755688	30938664	115425358	42	5381	106	2									
WRN	7486	broad.mit.edu	37	chr8	30938666	30938667	+	Frame_Shift_Ins	INS	-	-	AAATATCCTTTAGT													acgaaaagaagatggatttgINSaagatggagtagaagacaac							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:30938666_30938667insAAATATCCTTTAGT	ENST00000298139.5	+	9	1372_1373	c.1123_1124insAAATATCCTTTAGT	c.(1123-1125)gaafs	p.-375fs		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like						base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGATGGATTTGAAGATGGAGTA	0.361			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				False	0	False	8:30938666	0	AAATATCCTTTAGT	30938667	-	AAATATCCTTTAGT	30938666	7	5	64	1	0	1	1	0	0	0	0	0	17486	1291	45	0	1153	0	WRN	8	30938666	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	2	30938666	115425356	43	5382	106	2									
VCPIP1	80124	broad.mit.edu	37	chr8	67576975	67576976	+	Frame_Shift_Ins	INS	-	-	AAGTC													aacagtcctgggttgcccttINStttgttcttgttttaacttc							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:67576975_67576976insAAGTC	ENST00000310421.4	-	1	2476_2477	c.2218_2219insGACTT	c.(2218-2220)aaafs	p.K740fs		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	740					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGGTTGCCCTTTTTGTTCTTGT	0.426													False	0	True	8:67576975	0	AAGTC	67576976	-	AAGTC	67576975	7	5	64	1	0	1	1	0	0	0	0	0	17225	1841	64	0	1461	0	VCPIP1	8	67576975	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	36638309	67576975	78787047	44	5383											
ZFHX4	79776	broad.mit.edu	37	chr8	77766675	77766675	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgccttcccaactctggaActctggcaggaacaccagca	9	14	2	0			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:77766675A>G	ENST00000521891.2	+	10	7966	c.7518A>G	c.(7516-7518)gaA>gaG	p.E2506E	ZFHX4_ENST00000455469.2_Silent_p.E2461E|ZFHX4_ENST00000518282.1_Silent_p.E2480E|ZFHX4_ENST00000050961.6_Silent_p.E2461E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2461						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAACTCTGGAACTCTGGCAGG	0.478										HNSCC(33;0.089)			False	0	True	8:77766675	0	G	77766675	A	G	77766675	2	3	64	1	0	0	0	0	0	0	0	1	17718	40	2	4		4	ZFHX4	8	77766675	Silent	SNP	A	TCGA-HZ-8002-01A-11D-2201-08	10189700	77766675	68597347	45	5384											
SNX16	64089	broad.mit.edu	37	chr8	82715403	82715404	+	In_Frame_Ins	INS	-	-	GCATAC													agtgattccatctccttttgINStttttcaagtagttctttct							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:82715403_82715404insGCATAC	ENST00000353788.4	-	5	821_822	c.654_655insGTATGC	c.(652-657)aaacaa>aaaGTATGCcaa	p.218_219KQ>KVCQ	SNX16_ENST00000345957.4_In_Frame_Ins_p.247_248KQ>KVCQ|SNX16_ENST00000396330.2_In_Frame_Ins_p.247_248KQ>KVCQ|RP13-923O23.6_ENST00000524337.1_RNA	NM_152837.2	NP_690050.1	P57768	SNX16_HUMAN	sorting nexin 16	247	PX.				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						ATCTCCTTTTGTTTTTCAAGTA	0.342													False	0	True	8:82715403	0	GCATAC	82715404	-	GCATAC	82715403	7	5	64	1	0	1	1	0	0	0	0	0	14967	1386	48	0	304	0	SNX16	8	82715403	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	4948728	82715403	63648619	46	5385											
KCNV1	27012	broad.mit.edu	37	chr8	110984838	110984838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaagataatggagatgaCgccaaagatacgggcagctg	13	8	0	4			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:110984838C>T	ENST00000524391.1	-	3	1672	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	214						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.V214I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATGGAGATGACGCCAAAGATA	0.517													False	0	False	8:110984838	0	T	110984838	C	T	110984838	3	4	64	1	0	0	0	0	1	0	0	0	8144	536	19	1	870	1	KCNV1	8	110984838	Missense_Mutation	SNP	C	TCGA-HZ-8002-01A-11D-2201-08	28269435	110984838	35379184	47	5386											
RFX3	5991	broad.mit.edu	37	chr9	3271103	3271104	+	Frame_Shift_Ins	INS	-	-	TAATAAATTAGAG													ctaaattgaagattcacaacINSaacgtccaatattgcctaaa							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:3271103_3271104insTAATAAATTAGAG	ENST00000382004.3	-	11	1412_1413	c.1101_1102insCTCTAATTTATTA	c.(1099-1104)gttgttfs	p.V368fs	RFX3_ENST00000358730.2_Frame_Shift_Ins_p.V368fs|RFX3_ENST00000302303.1_Frame_Shift_Ins_p.V368fs	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	368					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AGATTCACAACAACGTCCAATA	0.376													False	0	False	9:3271103	0	TAATAAATTAGAG	3271104	-	TAATAAATTAGAG	3271103	7	5	64	1	0	1	1	0	0	0	0	0	13343	478	17	0	1335	0	RFX3	9	3271103	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08		3271103	137942328	48	5387											
JAK2	3717	broad.mit.edu	37	chr9	5089799	5089800	+	Frame_Shift_Ins	INS	-	-	ACAAA													gagactttgaaagggaaattINSgaaatcctgaaatccctaca							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:5089799_5089800insACAAA	ENST00000381652.3	+	20	3191_3192	c.2697_2698insACAAA	c.(2698-2700)gaafs	p.E900fs	JAK2_ENST00000539801.1_Frame_Shift_Ins_p.E900fs|JAK2_ENST00000544510.1_Frame_Shift_Ins_p.E751fs	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	900	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AAAGGGAAATTGAAATCCTGAA	0.441		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				False	0	True	9:5089799	0	ACAAA	5089800	-	ACAAA	5089799	7	5	64	1	0	1	1	0	0	0	0	0	7988	1800	63	0	2767	0	JAK2	9	5089799	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	1818696	5089799	136123632	49	5388											
KIAA1045	23349	broad.mit.edu	37	chr9	34976561	34976561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacactggaggactttctgCgttaccgccaccaagcagcc	10	14	1	1			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:34976561C>T	ENST00000242315.3	+	5	755	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	KIAA1045_ENST00000544237.1_Missense_Mutation_p.R225C|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	225							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GGACTTTCTGCGTTACCGCCA	0.647													False	0	False	9:34976561	0	T	34976561	C	T	34976561	3	4	64	1	0	0	0	0	1	0	0	0	8257	768	27	1	687	1	KIAA1045	9	34976561	Missense_Mutation	SNP	C	TCGA-HZ-8002-01A-11D-2201-08	29886762	34976561	106236870	50	5389											
PCSK5	5125	broad.mit.edu	37	chr9	78790149	78790153	+	Frame_Shift_Del	DEL	AATGA	AATGA	-													aatggaatgaaatggaatggAatgaaatggaatggaatgga					rs4281168		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	AATGA	AATGA	-	-	AATGA	AATGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:78790149_78790153delAATGA	ENST00000376767.3	+	14	2516_2520	c.2004_2008delAATGA	c.(2002-2010)ggaatgaaafs	p.MK669fs	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						aatggaatggaatgaaatggaatgg	0.41													False	1	True	9:78790149	0	-	78790153	AATGA	-	78790149	7	5	64	1	0	1	0	1	0	0	0	0	11671	261	9	0		0	PCSK5	9	78790149	Frame_Shift_Del	DEL	AATGA	TCGA-HZ-8002-01A-11D-2201-08	43813588	78790149	62423282	51	5390											
ADARB2	105	broad.mit.edu	37	chr10	1405435	1405435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacacacgtagcgcagccCggcgcgcaggcggttcagca	14	15	1	1			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:1405435C>T	ENST00000381312.1	-	3	1190	c.865G>A	c.(865-867)Ggg>Agg	p.G289R		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	289	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.G289R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TAGCGCAGCCCGGCGCGCAGG	0.771													False	0	True	10:1405435	0	T	1405435	C	T	1405435	3	4	64	1	0	0	0	0	1	0	0	0	283	652	23	1	1386	1	ADARB2	10	1405435	Missense_Mutation	SNP	C	TCGA-HZ-8002-01A-11D-2201-08		1405435	134129312	52	5391											
MPP7	143098	broad.mit.edu	37	chr10	28343119	28343119	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattttgtcaaaaagatgacCatattgactttccattatct	4	7	2	3			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:28343119C>A	ENST00000337532.5	-	18	1882	c.1606G>T	c.(1606-1608)Ggt>Tgt	p.G536C	MPP7_ENST00000375732.1_Missense_Mutation_p.G536C|MPP7_ENST00000375719.3_Missense_Mutation_p.G536C|MPP7_ENST00000540098.1_Missense_Mutation_p.G536C	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	536	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AAAAGATGACCATATTGACTT	0.318													False	0	False	10:28343119	0	A	28343119	C	A	28343119	3	1	64	1	0	0	0	0	1	0	0	0	9806	594	21	3	128	3	MPP7	10	28343119	Missense_Mutation	SNP	C	TCGA-HZ-8002-01A-11D-2201-08	26937684	28343119	107191628	53	5392											
PDZD7	79955	broad.mit.edu	37	chr10	102778797	102778797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgggctccgtctgcatgGctgtgtccgcccgcccccag	12	18	1	0			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:102778797G>A	ENST00000370215.3	-	8	1331	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	369						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGTCTGCATGGCTGTGTCCGC	0.741											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	10:102778797	0	A	102778797	G	A	102778797	3	1	64	1	0	0	0	0	1	0	0	0	11772	1203	42	2	459	2	PDZD7	10	102778797	Missense_Mutation	SNP	G	TCGA-HZ-8002-01A-11D-2201-08	74435678	102778797	32755950	54	5393											
DMBT1	1755	broad.mit.edu	37	chr10	124399679	124399679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttcagaacacctgggtcGacaccatgtacattgctaat	8	11	1	1			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:124399679G>A	ENST00000368909.3	+	52	6785	c.6679G>A	c.(6679-6681)Gac>Aac	p.D2227N	DMBT1_ENST00000330163.4_Missense_Mutation_p.D1599N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1599N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D947N|DMBT1_ENST00000338354.3_Missense_Mutation_p.D2227N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2227	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCTGGGTCGACACCATGTA	0.478													False	0	False	10:124399679	0	A	124399679	G	A	124399679	3	1	64	1	0	0	0	0	1	0	0	0	4607	1058	37	1	6885	1	DMBT1	10	124399679	Missense_Mutation	SNP	G	TCGA-HZ-8002-01A-11D-2201-08	21620882	124399679	11135068	55	5394											
MUC2	4583	broad.mit.edu	37	chr11	1095329	1095330	+	Frame_Shift_Ins	INS	-	-	AGAT													ggcaccaagccccccgagtgINScccagactttgatcctccca							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:1095329_1095330insAGAT	ENST00000441003.2	+	32	6176_6177	c.6149_6150insAGAT	c.(6148-6153)tgcccafs	p.C2050fs	MUC2_ENST00000361558.6_Frame_Shift_Ins_p.C188fs|MUC2_ENST00000333592.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4412						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCCCCGAGTGCCCAGACTTTG	0.683													False	0	True	11:1095329	0	AGAT	1095330	-	AGAT	1095329	7	5	64	1	0	1	1	0	0	0	0	0	10042	1319	46	0	6267	0	MUC2	11	1095329	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08		1095329	133911187	56	5395											
MADD	8567	broad.mit.edu	37	chr11	47296667	47296667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggactgctgtagtgagCgccttctgggcaagaaactg	15	8	1	2			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:47296667C>T	ENST00000342922.4	+	3	973	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	MADD_ENST00000395344.3_Missense_Mutation_p.R206C|MADD_ENST00000402192.2_Missense_Mutation_p.R206C|MADD_ENST00000402799.1_Missense_Mutation_p.R206C|MADD_ENST00000395336.3_Missense_Mutation_p.R206C|MADD_ENST00000349238.3_Missense_Mutation_p.R206C|MADD_ENST00000311027.5_Missense_Mutation_p.R206C|MADD_ENST00000407859.3_Missense_Mutation_p.R206C|MADD_ENST00000406482.1_Missense_Mutation_p.R206C	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	206	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGTAGTGAGCGCCTTCTGGG	0.522													False	0	False	11:47296667	0	T	47296667	C	T	47296667	3	4	64	1	0	0	0	0	1	0	0	0	9215	768	27	1	622	1	MADD	11	47296667	Missense_Mutation	SNP	C	TCGA-HZ-8002-01A-11D-2201-08	46201338	47296667	87709849	57	5396											
SIK3	23387	broad.mit.edu	37	chr11	116827701	116827702	+	In_Frame_Ins	INS	-	-	GTGACTTTTTTTGTTTCTATGTTAATCCTGCTATCTTTCCTACCCTTC													atgggggtggcaaagcatctINStcataatttgaacttcccgg							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:116827701_116827702insGTGACTTTTTTTGTTTCTATGTTAATCCTGCTATCTTTCCTACCCTTC	ENST00000446921.2	-	2	373_374	c.352_353insGAAGGGTAGGAAAGATAGCAGGATTAACATAGAAACAAAAAAAGTCAC	c.(352-354)aag>aGAAGGGTAGGAAAGATAGCAGGATTAACATAGAAACAAAAAAAGTCACag	p.118_118K>RRVGKIAGLT*KQKKSQ	SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_In_Frame_Ins_p.60_60K>RRVGKIAGLT*KQKKSQ|SIK3_ENST00000375300.1_In_Frame_Ins_p.118_118K>RRVGKIAGLT*KQKKSQ|SIK3_ENST00000292055.4_In_Frame_Ins_p.60_60K>RRVGKIAGLT*KQKKSQ			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	60	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCAAAGCATCTTCATAATTTGA	0.411													False	0	False	11:116827701	0	GTGACTTTTTTTGTTTCTATGTTAATCCTGCTATCTTTCCTACCCTTC	116827702	-	GTGACTTTTTTTGTTTCTATGTTAATCCTGCTATCTTTCCTACCCTTC	116827701	7	5	64	1	0	1	1	0	0	0	0	0	14400	1609	56	0	3700	0	SIK3	11	116827701	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	69531034	116827701	18178815	58	5397											
KCNA1	3736	broad.mit.edu	37	chr12	5021748	5021748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgtgctaacaattgccCtgcccgtacctgtcattgtg	10	12	1	0			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:5021748C>T	ENST00000382545.3	+	2	2311	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	402					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AACAATTGCCCTGCCCGTACC	0.517													False	0	True	12:5021748	0	T	5021748	C	T	5021748	2	4	64	1	0	0	0	0	0	0	0	1	8051	680	24	2		2	KCNA1	12	5021748	Silent	SNP	C	TCGA-HZ-8002-01A-11D-2201-08		5021748	128830147	59	5398											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	64	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-8002-01A-11D-2201-08	20376536	25398284	108453611	60	5399											
FGFR1OP2	26127	broad.mit.edu	37	chr12	27116378	27116379	+	In_Frame_Ins	INS	-	-	CTTACATTG													aaggaacaagaacgaatattINStcaacttgaagtaagtttta							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:27116378_27116379insCTTACATTG	ENST00000327214.5	+	5	725_726	c.500_501insCTTACATTG	c.(499-504)tttcaa>ttCTTACATTGtcaa	p.167_168FQ>FLHCQ	FGFR1OP2_ENST00000229395.3_In_Frame_Ins_p.205_206FQ>FLHCQ	NM_001171887.1	NP_001165358.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	205						cytoplasm				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					GAACGAATATTTCAACTTGAAG	0.337													False	0	True	12:27116378	0	CTTACATTG	27116379	-	CTTACATTG	27116378	7	5	64	1	0	1	1	0	0	0	0	0	5905	1841	64	0	641	0	FGFR1OP2	12	27116378	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	1718094	27116378	106735517	61	5400											
ARID2	196528	broad.mit.edu	37	chr12	46246351	46246352	+	Frame_Shift_Ins	INS	-	-	G													tctgttatacagggacatcaINSaatcatagcagttcccgact							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:46246351_46246352insG	ENST00000334344.6	+	15	4617_4618	c.4445_4446insG	c.(4444-4449)caaatcfs	p.I1483fs	ARID2_ENST00000444670.1_Frame_Shift_Ins_p.I1093fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Frame_Shift_Ins_p.I91fs|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.I1334fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1483					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAGGGACATCAAATCATAGCAG	0.446			"N, S, F"		hepatocellular carcinoma								False	0	True	12:46246351	0	G	46246352	-	G	46246351	7	5	64	1	0	1	1	0	0	0	0	0	917	130	5	0	4503	0	ARID2	12	46246351	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	19129973	46246351	87605544	62	5401	107	2									
ARID2	196528	broad.mit.edu	37	chr12	46246353	46246354	+	Frame_Shift_Ins	INS	-	-	ATTCTTTC													tgttatacagggacatcaaaINStcatagcagttcccgactca							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:46246353_46246354insATTCTTTC	ENST00000334344.6	+	15	4619_4620	c.4447_4448insATTCTTTC	c.(4447-4449)atcfs	p.I1483fs	ARID2_ENST00000444670.1_Frame_Shift_Ins_p.I1093fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Frame_Shift_Ins_p.I91fs|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.I1334fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1483					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGGACATCAAATCATAGCAGTT	0.45			"N, S, F"		hepatocellular carcinoma								False	0	True	12:46246353	0	ATTCTTTC	46246354	-	ATTCTTTC	46246353	7	5	64	1	0	1	1	0	0	0	0	0	917	101	4	0	4505	0	ARID2	12	46246353	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	2	46246353	87605542	63	5402	107	2									
TMPRSS12	283471	broad.mit.edu	37	chr12	51279203	51279204	+	Frame_Shift_Ins	INS	-	-	G													aattttcctttaaaatatttINStctgaagccagaagggaact							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:51279203_51279204insG	ENST00000551456.1	+	4	872_873	c.827_828insG	c.(826-831)tttctgfs	p.FL276fs	TMPRSS12_ENST00000398458.3_Intron			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	275	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TTAAAATATTTTCTGAAGCCAG	0.342													False	0	True	12:51279203	0	G	51279204	-	G	51279203	7	5	64	1	0	1	1	0	0	0	0	0	16326	1856	64	0		0	TMPRSS12	12	51279203	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	5032850	51279203	82572692	64	5403	108	2									
TMPRSS12	283471	broad.mit.edu	37	chr12	51279204	51279205	+	Frame_Shift_Ins	INS	-	-	AGCGTTAC													attttcctttaaaatattttINSctgaagccagaagggaactt							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:51279204_51279205insAGCGTTAC	ENST00000551456.1	+	4	873_874	c.828_829insAGCGTTAC	c.(829-831)ctgfs	p.L277fs	TMPRSS12_ENST00000398458.3_Intron			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	276	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TAAAATATTTTCTGAAGCCAGA	0.342													False	0	True	12:51279204	0	AGCGTTAC	51279205	-	AGCGTTAC	51279204	7	5	64	1	0	1	1	0	0	0	0	0	16326	1798	62	0		0	TMPRSS12	12	51279204	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	1	51279204	82572691	65	5404	108	2									
TIMELESS	8914	broad.mit.edu	37	chr12	56825369	56825369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctaagcgtccctgccctactCccgccagctgctcggggttc	10	18	0	0			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:56825369C>T	ENST00000229201.4	-	8	858	c.704G>A	c.(703-705)gGa>gAa	p.G235E	TIMELESS_ENST00000554616.1_Missense_Mutation_p.G236E|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G236E	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	236					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTGCCCTACTCCCGCCAGCTG	0.547													False	0	True	12:56825369	0	T	56825369	C	T	56825369	3	4	64	1	0	0	0	0	1	0	0	0	15986	855	30	2	3007	2	TIMELESS	12	56825369	Missense_Mutation	SNP	C	TCGA-HZ-8002-01A-11D-2201-08	5546165	56825369	77026526	66	5405											
LEMD3	23592	broad.mit.edu	37	chr12	65639545	65639546	+	In_Frame_Ins	INS	-	-	CAACAACCA													acattgcagtagacaaaaatINStcacgtgaggtaaagtaact							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:65639545_65639546insCAACAACCA	ENST00000308330.2	+	11	2510_2511	c.2484_2485insCAACAACCA	c.(2485-2487)tca>CAACAACCAtca	p.828_829insQQP		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	828	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TAGACAAAAATTCACGTGAGGT	0.322													False	0	False	12:65639545	0	CAACAACCA	65639546	-	CAACAACCA	65639545	7	5	64	1	0	1	1	0	0	0	0	0	8772	1490	52	0	2526	0	LEMD3	12	65639545	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	8814176	65639545	68212350	67	5406											
NAA25	80018	broad.mit.edu	37	chr12	112506776	112506777	+	Frame_Shift_Ins	INS	-	-	TTGATAAT													aactttttaaaatactggaaINScattaattcttctggatcac							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:112506776_112506777insTTGATAAT	ENST00000261745.4	-	11	1304_1305	c.1056_1057insATTATCAA	c.(1054-1059)atgttcfs	p.F353fs		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	353						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAATACTGGAACATTAATTCTT	0.347													False	0	False	12:112506776	0	TTGATAAT	112506777	-	TTGATAAT	112506776	7	5	64	1	0	1	1	0	0	0	0	0	10188	43	2	0	1917	0	NAA25	12	112506776	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	46867231	112506776	21345119	68	5407											
TMEM132B	114795	broad.mit.edu	37	chr12	126138387	126138387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaatgtcaaggtcaaattcGaaccaagtagtgatgagcac	10	7	2	2			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:126138387G>A	ENST00000299308.3	+	9	2376	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E302K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	790						integral to membrane		p.E790K(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTCAAATTCGAACCAAGTAG	0.423													False	0	False	12:126138387	0	A	126138387	G	A	126138387	3	1	64	1	0	0	0	0	1	0	0	0	16128	1059	37	1	2402	1	TMEM132B	12	126138387	Missense_Mutation	SNP	G	TCGA-HZ-8002-01A-11D-2201-08	13631611	126138387	7713508	69	5408											
NAA16	79612	broad.mit.edu	37	chr13	41932599	41932600	+	Frame_Shift_Ins	INS	-	-	TC													ttattctatatgaaagcaaaINSaatttacaaggtaaaatctg							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:41932599_41932600insTC	ENST00000379406.3	+	11	1571_1572	c.1247_1248insTC	c.(1246-1251)aaaattfs	p.KI416fs	NAA16_ENST00000403412.3_Frame_Shift_Ins_p.KI416fs|NAA16_ENST00000379367.3_Frame_Shift_Ins_p.KI416fs	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	416					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.K416N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						ATGAAAGCAAAAATTTACAAGG	0.312													False	0	True	13:41932599	0	TC	41932600	-	TC	41932599	7	5	64	1	0	1	1	0	0	0	0	0	10186	14	1	0	1289	0	NAA16	13	41932599	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08		41932599	73237279	70	5409	109	2									
NAA16	79612	broad.mit.edu	37	chr13	41932600	41932601	+	In_Frame_Ins	INS	-	-	CAT													tattctatatgaaagcaaaaINSatttacaaggtaaaatctga							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:41932600_41932601insCAT	ENST00000379406.3	+	11	1572_1573	c.1248_1249insCAT	c.(1249-1251)att>CATatt	p.416_417insH	NAA16_ENST00000403412.3_In_Frame_Ins_p.416_417insH|NAA16_ENST00000379367.3_In_Frame_Ins_p.416_417insH	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	416					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.K416N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TGAAAGCAAAAATTTACAAGGT	0.312													False	0	True	13:41932600	0	CAT	41932601	-	CAT	41932600	7	5	64	1	0	1	1	0	0	0	0	0	10186	11	1	0	1290	0	NAA16	13	41932600	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	1	41932600	73237278	71	5410	109	2									
ZC3H13	23091	broad.mit.edu	37	chr13	46543773	46543773	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caacatcatcctctttctttTtcttaattggtttcttttga	3	9	5	1			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:46543773T>A	ENST00000242848.4	-	14	3254	c.2906A>T	c.(2905-2907)aAa>aTa	p.K969I	ZC3H13_ENST00000282007.3_Missense_Mutation_p.K969I|ZC3H13_ENST00000378921.2_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	969	Lys-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTTTCTTTTTCTTAATTGG	0.363													False	0	True	13:46543773	0	A	46543773	T	A	46543773	3	1	64	1	0	0	0	0	1	0	0	0	17648	1841	64	5	1804	5	ZC3H13	13	46543773	Missense_Mutation	SNP	T	TCGA-HZ-8002-01A-11D-2201-08	4611173	46543773	68626105	72	5411											
UGGT2	55757	broad.mit.edu	37	chr13	96547518	96547519	+	In_Frame_Ins	INS	-	-	GGTATAATAAAAGACATATAT													tatcttttccaacaagtaaaINSaatcttctgcataaaaatct							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:96547518_96547519insGGTATAATAAAAGACATATAT	ENST00000376747.3	-	23	2744_2745	c.2674_2675insATATATGTCTTTTATTATACC	c.(2674-2676)ttt>tATATATGTCTTTTATTATACCtt	p.892_892F>YICLLLYL		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	892					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CAACAAGTAAAAATCTTCTGCA	0.262													False	0	True	13:96547518	0	GGTATAATAAAAGACATATAT	96547519	-	GGTATAATAAAAGACATATAT	96547518	7	5	64	1	0	1	1	0	0	0	0	0	17026	14	1	0	1943	0	UGGT2	13	96547518	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	50003745	96547518	18622360	73	5412											
NALCN	259232	broad.mit.edu	37	chr13	102047562	102047562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccggatgtgcatttttGctatcatctctgccgtgtag	10	11	2	0			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:102047562G>A	ENST00000251127.6	-	3	344	c.263C>T	c.(262-264)gCa>gTa	p.A88V	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.A88V|NALCN_ENST00000376196.3_Missense_Mutation_p.A88V	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	88						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGCATTTTTGCTATCATCTC	0.388													False	0	True	13:102047562	0	A	102047562	G	A	102047562	3	1	64	1	0	0	0	0	1	0	0	0	10215	1319	46	2	5121	2	NALCN	13	102047562	Missense_Mutation	SNP	G	TCGA-HZ-8002-01A-11D-2201-08	5500044	102047562	13122316	74	5413											
ARHGEF7	8874	broad.mit.edu	37	chr13	111870079	111870079	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaagagcaaagtttaacttCcagcagaccaatgaggacga	10	8	0	3			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:111870079C>T	ENST00000375741.2	+	6	835	c.585C>T	c.(583-585)ttC>ttT	p.F195F	ARHGEF7_ENST00000375737.5_Silent_p.F92F|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375736.4_Silent_p.F17F|ARHGEF7_ENST00000375723.1_Silent_p.F17F|ARHGEF7_ENST00000218789.5_Silent_p.F17F|ARHGEF7_ENST00000375739.2_Silent_p.F145F|ARHGEF7_ENST00000426073.2_Silent_p.F17F|ARHGEF7_ENST00000317133.5_Silent_p.F174F|ARHGEF7_ENST00000370623.3_Silent_p.F102F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	195	SH3.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGTTTAACTTCCAGCAGACCA	0.478													False	0	False	13:111870079	0	T	111870079	C	T	111870079	2	4	64	1	0	0	0	0	0	0	0	1	913	854	30	2		2	ARHGEF7	13	111870079	Silent	SNP	C	TCGA-HZ-8002-01A-11D-2201-08	9822517	111870079	3299799	75	5414											
PNN	5411	broad.mit.edu	37	chr14	39648438	39648439	+	Frame_Shift_Ins	INS	-	-	TAGC													ttttggaacagaaagttgagINScttgcgcagctggtgagtgg							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:39648438_39648439insTAGC	ENST00000216832.4	+	7	709_710	c.642_643insTAGC	c.(643-645)cttfs	p.L215fs	PNN_ENST00000557680.1_3'UTR|PNN_ENST00000553331.1_3'UTR	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	215	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AGAAAGTTGAGCTTGCGCAGCT	0.416													False	0	False	14:39648438	0	TAGC	39648439	-	TAGC	39648438	7	5	64	1	0	1	1	0	0	0	0	0	12229	962	34	0	668	0	PNN	14	39648438	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08		39648438	67701102	76	5415											
KIAA0586	9786	broad.mit.edu	37	chr14	58934617	58934618	+	Frame_Shift_Ins	INS	-	-	GAAAAGTCTAATAT													aatgaagtcagaaaaaaaggINSatcctcctcagcttactgtg							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:58934617_58934618insGAAAAGTCTAATAT	ENST00000423743.3	+	17	2545_2546	c.2287_2288insGAAAAGTCTAATAT	c.(2287-2289)gatfs	p.D763fs	KIAA0586_ENST00000354386.6_Frame_Shift_Ins_p.D860fs|KIAA0586_ENST00000261244.5_Frame_Shift_Ins_p.D731fs|KIAA0586_ENST00000556134.1_Frame_Shift_Ins_p.D792fs|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	731										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAAAAAAAGGATCCTCCTCAG	0.361													False	0	False	14:58934617	0	GAAAAGTCTAATAT	58934618	-	GAAAAGTCTAATAT	58934617	7	5	64	1	0	1	1	0	0	0	0	0	8236	1174	41	0	2249	0	KIAA0586	14	58934617	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	19286179	58934617	48414923	77	5416											
ATG2B	55102	broad.mit.edu	37	chr14	96808038	96808039	+	Splice_Site	INS	-	-	TGTAGTAAAA													gagagctttggctcagtttcINSctacaataaagtgacaaaaa							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:96808038_96808039insTGTAGTAAAA	ENST00000359933.4	-	6	1638	c.745_745insTTTTACTACA	c.(745-747)gaa>TTTTACTACAgaa	p.E249fs		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	249										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCTCAGTTTCCTACAATAAAG	0.307													False	0	False	14:96808038	0	TGTAGTAAAA	96808039	-	TGTAGTAAAA	96808038	8	5	64	1	0	1	1	0	0	0	1	0	1098	869	30	0	5639	0	ATG2B	14	96808038	Splice_Site	INS	-	TCGA-HZ-8002-01A-11D-2201-08	37873421	96808038	10541502	78	5417											
HERC2	8924	broad.mit.edu	37	chr15	28413594	28413594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttggactcagtctgtcttCgatatcaacagccagcatgc	8	11	4	0			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:28413594C>T	ENST00000261609.7	-	67	10480	c.10372G>A	c.(10372-10374)Gaa>Aaa	p.E3458K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3458					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTCTGTCTTCGATATCAACA	0.502													False	0	False	15:28413594	0	T	28413594	C	T	28413594	3	4	64	1	0	0	0	0	1	0	0	0	7105	893	31	1	4240	1	HERC2	15	28413594	Missense_Mutation	SNP	C	TCGA-HZ-8002-01A-11D-2201-08		28413594	74117798	79	5418											
SECISBP2L	9728	broad.mit.edu	37	chr15	49293210	49293211	+	Frame_Shift_Ins	INS	-	-	TATAGCTGTGGGATATACAGTGAATATAAAGT													ttacaggatctttttggtagINSatgcgttcctggaaactgac							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:49293210_49293211insTATAGCTGTGGGATATACAGTGAATATAAAGT	ENST00000559471.1	-	15	2374_2375	c.2111_2112insACTTTATATTCACTGTATATCCCACAGCTATA	c.(2110-2112)atcfs	p.-704fs	SECISBP2L_ENST00000261847.3_Frame_Shift_Ins_p.-659fs|SECISBP2L_ENST00000559122.1_5'UTR	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like											breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTTTTTGGTAGATGCGTTCCTG	0.371													False	0	False	15:49293210	0	TATAGCTGTGGGATATACAGTGAATATAAAGT	49293211	-	TATAGCTGTGGGATATACAGTGAATATAAAGT	49293210	7	5	64	1	0	1	1	0	0	0	0	0	14088	932	33	0	1209	0	SECISBP2L	15	49293210	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	20879616	49293210	53238182	80	5419											
USP8	9101	broad.mit.edu	37	chr15	50773952	50773953	+	Frame_Shift_Ins	INS	-	-	ACTTTTCC													gagaaactgaggaaggaagaINSacaagaacaaaaagccaaaa							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:50773952_50773953insACTTTTCC	ENST00000425032.3	+	9	1455_1456	c.1262_1263insACTTTTCC	c.(1261-1266)gaacaafs	p.Q422fs	USP8_ENST00000307179.4_Frame_Shift_Ins_p.Q499fs|USP8_ENST00000433963.1_Frame_Shift_Ins_p.Q499fs|USP8_ENST00000396444.3_Frame_Shift_Ins_p.Q499fs			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	499					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E498E(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		aggaaggaagaacaagaacaaa	0.351													False	0	True	15:50773952	0	ACTTTTCC	50773953	-	ACTTTTCC	50773952	7	5	64	1	0	1	1	0	0	0	0	0	17173	246	9	0	1531	0	USP8	15	50773952	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	1480742	50773952	51757440	81	5420											
MAPK6	5597	broad.mit.edu	37	chr15	52357088	52357089	+	Frame_Shift_Ins	INS	-	-	ATCTTCTTTCC													ccacagtttcacagtccagtINStgggtcaccacttaagtcaa							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:52357088_52357089insATCTTCTTTCC	ENST00000261845.5	+	6	2864_2865	c.2057_2058insATCTTCTTTCC	c.(2056-2061)gttgggfs	p.G687fs	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	687					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		CACAGTCCAGTTGGGTCACCAC	0.46													False	0	True	15:52357088	0	ATCTTCTTTCC	52357089	-	ATCTTCTTTCC	52357088	7	5	64	1	0	1	1	0	0	0	0	0	9348	1725	60	0	2075	0	MAPK6	15	52357088	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	1583136	52357088	50174304	82	5421											
AKAP13	11214	broad.mit.edu	37	chr15	86207971	86207972	+	In_Frame_Ins	INS	-	-	GCACAA													cagaccagagagaacataggINSatgtttgatcagcaggtaag							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:86207971_86207972insGCACAA	ENST00000394518.2	+	13	5072_5073	c.4977_4978insGCACAA	c.(4978-4980)atg>GCACAAatg	p.1659_1660insAQ	AKAP13_ENST00000361243.2_In_Frame_Ins_p.1663_1664insAQ|AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1659					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGAACATAGGATGTTTGATCA	0.406													False	0	False	15:86207971	0	GCACAA	86207972	-	GCACAA	86207971	7	5	64	1	0	1	1	0	0	0	0	0	449	1165	41	0	5093	0	AKAP13	15	86207971	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	33850883	86207971	16323421	83	5422											
BLM	641	broad.mit.edu	37	chr15	91293298	91293299	+	Splice_Site	INS	-	-	AGGGTGGAGGCAAATCAGTCT													catttggaagatgaaagaggINStaacaattattttatcttca							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:91293298_91293299insAGGGTGGAGGCAAATCAGTCT	ENST00000560509.1	+	3	850		c.e3+1		BLM_ENST00000355112.3_Splice_Site			P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like						double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GATGAAAGAGGTAACAATTATT	0.342			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				False	0	False	15:91293298	0	AGGGTGGAGGCAAATCAGTCT	91293299	-	AGGGTGGAGGCAAATCAGTCT	91293298	8	5	64	1	0	1	1	0	0	0	1	0	1450	1275	44	0	806	0	BLM	15	91293298	Splice_Site	INS	-	TCGA-HZ-8002-01A-11D-2201-08	5085327	91293298	11238094	84	5423											
VWA3A	146177	broad.mit.edu	37	chr16	22161152	22161158	+	Frame_Shift_Del	DEL	ACACGCT	ACACGCT	-													gagctttcagtcatggcaggAcacgctggtggagaccacag							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	ACACGCT	ACACGCT	-	-	ACACGCT	ACACGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:22161152_22161158delACACGCT	ENST00000389398.5	+	29	3125_3131	c.3029_3035delACACGCT	c.(3028-3036)gacacgctgfs	p.DTL1010fs	VWA3A_ENST00000389397.4_Frame_Shift_Del_p.DTL112fs|VWA3A_ENST00000563755.1_Frame_Shift_Del_p.DTL112fs	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1010	VWFA 2.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCATGGCAGGACACGCTGGTGGAGACC	0.546													False	1	False	16:22161152	0	-	22161158	ACACGCT	-	22161152	7	5	64	1	0	1	0	1	0	0	0	0	17324	275	10	0	3143	0	VWA3A	16	22161152	Frame_Shift_Del	DEL	ACACGCT	TCGA-HZ-8002-01A-11D-2201-08		22161152	68193601	85	5424											
NFAT5	10725	broad.mit.edu	37	chr16	69693784	69693785	+	In_Frame_Ins	INS	-	-	AATACAGAAAAAAAATATATAAAGGGA													tttgacactgcaaacaccctINScttctccaattttgtgtagt							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:69693784_69693785insAATACAGAAAAAAAATATATAAAGGGA	ENST00000354436.2	+	6	1615_1616	c.1297_1298insAATACAGAAAAAAAATATATAAAGGGA	c.(1297-1299)tct>tAATACAGAAAAAAAATATATAAAGGGAct	p.433_433S>*YRKKIYKGT	NFAT5_ENST00000349945.1_In_Frame_Ins_p.357_357S>*YRKKIYKGT|NFAT5_ENST00000567239.1_In_Frame_Ins_p.451_451S>*YRKKIYKGT|NFAT5_ENST00000393742.2_In_Frame_Ins_p.357_357S>*YRKKIYKGT|NFAT5_ENST00000566899.1_In_Frame_Ins_p.357_357S>*YRKKIYKGT|NFAT5_ENST00000432919.1_In_Frame_Ins_p.451_451S>*YRKKIYKGT	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	433	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCAAACACCCTCTTCTCCAATT	0.361													False	0	False	16:69693784	0	AATACAGAAAAAAAATATATAAAGGGA	69693785	-	AATACAGAAAAAAAATATATAAAGGGA	69693784	7	5	64	1	0	1	1	0	0	0	0	0	10428	1551	54	0	1377	0	NFAT5	16	69693784	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	47532632	69693784	20660969	86	5425											
HS3ST3B1	9953	broad.mit.edu	37	chr17	14205111	14205111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggctgccgttccgggcGccgccagccaccccactggc	12	21	0	0			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:14205111G>A	ENST00000360954.2	+	1	712	c.276G>A	c.(274-276)gcG>gcA	p.A92A		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	92					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGTTCCGGGCGCCGCCAGCCA	0.751													False	0	False	17:14205111	0	A	14205111	G	A	14205111	2	1	64	1	0	0	0	0	0	0	0	1	7413	1074	38	1		1	HS3ST3B1	17	14205111	Silent	SNP	G	TCGA-HZ-8002-01A-11D-2201-08		14205111	66990099	87	5426											
EVI2B	2124	broad.mit.edu	37	chr17	29632121	29632122	+	Frame_Shift_Ins	INS	-	-	AGCTA													ttttgacagttgatgttggtINStgtgtggatggattatgaac							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:29632121_29632122insAGCTA	ENST00000330927.4	-	2	660_661	c.506_507insTAGCT	c.(505-507)caafs	p.Q169fs	EVI2B_ENST00000544462.1_Frame_Shift_Ins_p.Q184fs|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Frame_Shift_Ins_p.Q169fs	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	169						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTGATGTTGGTTGTGTGGATGG	0.342													False	0	True	17:29632121	0	AGCTA	29632122	-	AGCTA	29632121	7	5	64	1	0	1	1	0	0	0	0	0	5320	1722	60	0	843	0	EVI2B	17	29632121	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	15427010	29632121	51563089	88	5427											
ABCA10	10349	broad.mit.edu	37	chr17	67187404	67187404	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggcatcaggaatgtgctGcttaataagggatgtgattt	12	5	1	1			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:67187404G>T	ENST00000269081.4	-	18	2833	c.1924C>A	c.(1924-1926)Cag>Aag	p.Q642K	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	642					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGAATGTGCTGCTTAATAAGG	0.343													False	0	False	17:67187404	0	T	67187404	G	T	67187404	3	4	64	1	0	0	0	0	1	0	0	0	29	1328	46	3	2799	3	ABCA10	17	67187404	Missense_Mutation	SNP	G	TCGA-HZ-8002-01A-11D-2201-08	37555283	67187404	14007806	89	5428											
RECQL5	9400	broad.mit.edu	37	chr17	73624802	73624802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcctttgcaggggtggGctggacttcaggggtgccct	17	9	1	0			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:73624802G>A	ENST00000317905.5	-	17	2689	c.2530C>T	c.(2530-2532)Ccc>Tcc	p.P844S	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.P817S	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	844					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCAGGGGTGGGCTGGACTTCA	0.652								Other identified genes with known or suspected DNA repair function					False	0	True	17:73624802	0	A	73624802	G	A	73624802	3	1	64	1	0	0	0	0	1	0	0	0	13282	1203	42	2	461	2	RECQL5	17	73624802	Missense_Mutation	SNP	G	TCGA-HZ-8002-01A-11D-2201-08	6437398	73624802	7570408	90	5429											
NOL4	8715	broad.mit.edu	37	chr18	31538336	31538336	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcagctcctcggtctacaCtctcatttttgccagagtca	6	15	4	1			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr18:31538336C>G	ENST00000261592.5	-	7	1400	c.1103G>C	c.(1102-1104)aGt>aCt	p.S368T	NOL4_ENST00000269185.4_Missense_Mutation_p.S254T|NOL4_ENST00000538587.1_Missense_Mutation_p.S294T|NOL4_ENST00000589544.1_Missense_Mutation_p.S368T|NOL4_ENST00000535384.1_Missense_Mutation_p.S83T|NOL4_ENST00000535475.1_Missense_Mutation_p.S213T	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	368						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCGGTCTACACTCTCATTTTT	0.443													False	0	False	18:31538336	0	G	31538336	C	G	31538336	3	3	64	1	0	0	0	0	1	0	0	0	10592	565	20	5	833	5	NOL4	18	31538336	Missense_Mutation	SNP	C	TCGA-HZ-8002-01A-11D-2201-08		31538336	46538912	91	5430											
POLI	11201	broad.mit.edu	37	chr18	51807207	51807208	+	In_Frame_Ins	INS	-	-	TGT													ctttaaaccaaatcaacaaaINScagtcttattacctgaaagt							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr18:51807207_51807208insTGT	ENST00000579434.1	+	4	955_956	c.421_422insTGT	c.(421-423)aca>aTGTca	p.141_141T>MS	POLI_ENST00000217800.5_In_Frame_Ins_p.118_118T>MS|POLI_ENST00000579534.1_In_Frame_Ins_p.244_244T>MS|POLI_ENST00000406285.3_Intron			Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	244	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAATCAACAAACAGTCTTATTA	0.351								DNA polymerases (catalytic subunits)					False	0	True	18:51807207	0	TGT	51807208	-	TGT	51807207	7	5	64	1	0	1	1	0	0	0	0	0	12272	43	2	0	748	0	POLI	18	51807207	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	20268871	51807207	26270041	92	5431											
ZNF90	7643	broad.mit.edu	37	chr19	20228881	20228882	+	Frame_Shift_Ins	INS	-	-	TTTTAACTCTAAATTGC													gatactggaaaaaaacctttINScaaatgtatagaatgtggca					rs138427736	by1000genomes	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:20228881_20228882insTTTTAACTCTAAATTGC	ENST00000418063.2	+	4	630_631	c.518_519insTTTTAACTCTAAATTGC	c.(517-522)ttcaaafs	p.K174fs	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	174						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						AAAAAACCTTTCAAATGTATAG	0.342													False	0	True	19:20228881	0	TTTTAACTCTAAATTGC	20228882	-	TTTTAACTCTAAATTGC	20228881	7	5	64	1	0	1	1	0	0	0	0	0	18281	1783	62	0	532	0	ZNF90	19	20228881	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08		20228881	38900102	93	5432											
ZNF714	148206	broad.mit.edu	37	chr19	21300607	21300608	+	Frame_Shift_Ins	INS	-	-	ATTGT													gtggcaaagcctttaaccacINStcctcaaaacttactataca							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:21300607_21300608insATTGT	ENST00000596143.1	+	5	1462_1463	c.1137_1138insATTGT	c.(1138-1140)tccfs	p.S380fs	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CCTTTAACCACTCCTCAAAACT	0.366													False	0	False	19:21300607	0	ATTGT	21300608	-	ATTGT	21300607	7	5	64	1	0	1	1	0	0	0	0	0	18201	564	20	0	1147	0	ZNF714	19	21300607	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	1071726	21300607	37828376	94	5433											
ZNF429	353088	broad.mit.edu	37	chr19	21720598	21720599	+	Frame_Shift_Ins	INS	-	-	A													cccactcctcaaaccttagtINSagtcataagaaaattcatag							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:21720598_21720599insA	ENST00000358491.4	+	4	1951_1952	c.1743_1744insA	c.(1744-1746)agtfs	p.S582fs	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CAAACCTTAGTAGTCATAAGAA	0.361													False	1	False	19:21720598	0	A	21720599	-	A	21720598	7	5	64	1	0	1	1	0	0	0	0	0	17985	1635	57	0	1757	0	ZNF429	19	21720598	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	419991	21720598	37408385	95	5434	110	2									
ZNF429	353088	broad.mit.edu	37	chr19	21720600	21720601	+	Frame_Shift_Ins	INS	-	-	GTTTCTC													cactcctcaaaccttagtagINStcataagaaaattcatagtg							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:21720600_21720601insGTTTCTC	ENST00000358491.4	+	4	1953_1954	c.1745_1746insGTTTCTC	c.(1744-1749)agtcatfs	p.SH582fs	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AACCTTAGTAGTCATAAGAAAA	0.351													False	0	False	19:21720600	0	GTTTCTC	21720601	-	GTTTCTC	21720600	7	5	64	1	0	1	1	0	0	0	0	0	17985	1029	36	0	1759	0	ZNF429	19	21720600	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	2	21720600	37408383	96	5435	110	2									
FFAR3	2865	broad.mit.edu	37	chr19	35850606	35850606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaccctgaactcctgtgtcGacccctttgtctactacttc	6	16	1	1			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:35850606G>A	ENST00000327809.4	+	2	1015	c.814G>A	c.(814-816)Gac>Aac	p.D272N	FFAR3_ENST00000594310.1_Missense_Mutation_p.D272N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	272						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	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)			CTCCTGTGTCGACCCCTTTGT	0.592													False	0	False	19:35850606	0	A	35850606	G	A	35850606	3	1	64	1	0	0	0	0	1	0	0	0	5869	1058	37	1	816	1	FFAR3	19	35850606	Missense_Mutation	SNP	G	TCGA-HZ-8002-01A-11D-2201-08	14130006	35850606	23278377	97	5436											
ZNF461	92283	broad.mit.edu	37	chr19	37130928	37130929	+	In_Frame_Ins	INS	-	-	ACTCAAGAATTTTATGATAGAGAGAAA													ggagataacttctggggctcINSatctctggatgccaagtctg							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:37130928_37130929insACTCAAGAATTTTATGATAGAGAGAAA	ENST00000588268.1	-	6	545_546	c.318_319insTTTCTCTCTATCATAAAATTCTTGAGT	c.(316-321)gatgag>gatTTTCTCTCTATCATAAAATTCTTGAGTgag	p.106_107DE>DFLSIIKFLSE	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_In_Frame_Ins_p.83_84DE>DFLSIIKFLSE	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTCTGGGGCTCATCTCTGGATG	0.342													False	0	False	19:37130928	0	ACTCAAGAATTTTATGATAGAGAGAAA	37130929	-	ACTCAAGAATTTTATGATAGAGAGAAA	37130928	7	5	64	1	0	1	1	0	0	0	0	0	18008	835	29	0	1376	0	ZNF461	19	37130928	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	1280322	37130928	21998055	98	5437											
PTH2	113091	broad.mit.edu	37	chr19	49926524	49926525	+	In_Frame_Ins	INS	-	-	CAC													gcagtgcggacgccccagggINScaccaccagcagcagcagca							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:49926524_49926525insCAC	ENST00000270631.1	-	1	173_174	c.72_73insGTG	c.(70-75)gtgccc>gtgGTGccc	p.24_25insV		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	24					neuropeptide signaling pathway	extracellular region				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		ACGCCCCAGGGCACCACcagca	0.683													False	2	True	19:49926524	0	CAC	49926525	-	CAC	49926524	7	5	64	1	0	1	1	0	0	0	0	0	12836	1203	42	0	237	0	PTH2	19	49926524	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	12795596	49926524	9202459	99	5438											
SIGLEC1	6614	broad.mit.edu	37	chr20	3670268	3670268	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtgtagcaggcccccAggcccaacagcaggagcagg	14	14	0	0			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:3670268A>G	ENST00000344754.4	-	19	4975	c.4976T>C	c.(4975-4977)cTg>cCg	p.L1659P	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1659P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1659					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGGCCCCCAGGCCCAACAG	0.652													False	0	True	20:3670268	0	G	3670268	A	G	3670268	3	3	64	1	0	0	0	0	1	0	0	0	14386	188	7	4	165	4	SIGLEC1	20	3670268	Missense_Mutation	SNP	A	TCGA-HZ-8002-01A-11D-2201-08		3670268	59355252	100	5439											
SNRPB2	6629	broad.mit.edu	37	chr20	16712412	16712413	+	Splice_Site	INS	-	-	AGTAAATTATACTGAACTGTGGCA													gacaaaattaaaaaggaaggINStaagtgctttttagaatact							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:16712412_16712413insAGTAAATTATACTGAACTGTGGCA	ENST00000246071.6	+	2	280		c.e2+1		SNRPB2_ENST00000377943.5_Splice_Site|SNRPB2_ENST00000478522.1_Splice_Site	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B							catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						AAAAAGGAAGGTAAGTGCTTTT	0.292													False	0	True	20:16712412	0	AGTAAATTATACTGAACTGTGGCA	16712413	-	AGTAAATTATACTGAACTGTGGCA	16712412	8	5	64	1	0	1	1	0	0	0	1	0	14942	1275	44	0	67	0	SNRPB2	20	16712412	Splice_Site	INS	-	TCGA-HZ-8002-01A-11D-2201-08	13042144	16712412	46313108	101	5440											
CBS	875	broad.mit.edu	37	chr21	44479374	44479374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcctcctccttcagaaaGcccttctgcagcatccacct	6	17	2	1			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr21:44479374G>A	ENST00000398165.3	-	13	1444	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	CBS_ENST00000544202.1_Silent_p.G307G|CBS_ENST00000398168.1_Silent_p.G395G|CBS_ENST00000398158.1_Silent_p.G395G|CBS_ENST00000352178.5_Silent_p.G395G|CBS_ENST00000359624.3_Silent_p.G395G	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	395					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CCTTCAGAAAGCCCTTCTGCA	0.677													False	0	True	21:44479374	0	A	44479374	G	A	44479374	2	1	64	1	0	0	0	0	0	0	0	1	2731	958	34	2		2	CBS	21	44479374	Silent	SNP	G	TCGA-HZ-8002-01A-11D-2201-08		44479374	3650521	102	5441											
EP300	2033	broad.mit.edu	37	chr22	41542816	41542822	+	Splice_Site	DEL	ATCTGGT	ATCTGGT	-													atgcctcgaataactccacaAtctggtaaatagtgaaaaaa							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	ATCTGGT	ATCTGGT	-	-	ATCTGGT	ATCTGGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:41542816_41542822delATCTGGT	ENST00000263253.7	+	11	3346_3350	c.2127_2131delATCTGGT	c.(2125-2133)caatctggt>cagt	p.SG710fs		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	710					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TAACTCCACAATCTGGTAAATAGTGaa	0.401			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				False	1	False	22:41542816	0	-	41542822	ATCTGGT	-	41542816	8	5	64	1	0	1	0	1	0	0	1	0	5180	98	4	0	2169	0	EP300	22	41542816	Splice_Site	DEL	ATCTGGT	TCGA-HZ-8002-01A-11D-2201-08		41542816	9761750	103	5442											
FAM19A5	25817	broad.mit.edu	37	chr22	49042501	49042501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggcagaccgcccgctgtGcgtgtagaaaggggcagatc	15	13	0	3			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:49042501G>A	ENST00000358295.5	+	2	359	c.184G>A	c.(184-186)Gcg>Acg	p.A62T	FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.A69T	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	69						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CGCCCGCTGTGCGTGTAGAAA	0.706													False	0	False	22:49042501	0	A	49042501	G	A	49042501	3	1	64	1	0	0	0	0	1	0	0	0	5571	1319	46	2	306	2	FAM19A5	22	49042501	Missense_Mutation	SNP	G	TCGA-HZ-8002-01A-11D-2201-08	7499685	49042501	2262065	104	5443											
RPGR	6103	broad.mit.edu	37	chrX	38146147	38146147	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccccatccctcttcttcCattcttccttctctgctagt	2	18	4	0			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:38146147C>T	ENST00000378505.2	-	15	2281	c.2105G>A	c.(2104-2106)tGg>tAg	p.W702*	RPGR_ENST00000342811.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	691	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cctcttcttccattcttcctt	0.542													False	0	False	X:38146147	0	T	38146147	C	T	38146147	4	4	64	1	0	0	0	0	0	1	0	0	13627	595	21	2	1916	2	RPGR	23	38146147	Nonsense_Mutation	SNP	C	TCGA-HZ-8002-01A-11D-2201-08		38146147	117124413	105	5444											
SHROOM4	57477	broad.mit.edu	37	chrX	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-													aatactggggtggcagctccTcttcctcctcctctgcctcc					rs3747282	byFrequency	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:50350672_50350674delTCT	ENST00000460112.3	-	5	3574_3576	c.3120_3122delAGA	c.(3118-3123)gaagag>gag	p.1040_1041EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													False	1	False	X:50350672	0	-	50350674	TCT	-	50350672	7	5	64	1	0	1	0	1	0	0	0	0	14377	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-HZ-8002-01A-11D-2201-08	12204525	50350672	104919888	106	5445											
PFKFB1	5207	broad.mit.edu	37	chrX	54987327	54987327	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtagctcactgcctctcGtcgatactggcctaaattaa	7	12	2	0	rs147665375		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:54987327G>A	ENST00000375006.3	-	3	317	c.247C>T	c.(247-249)Cga>Tga	p.R83*	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R18*	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	83	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ACTGCCTCTCGTCGATACTGG	0.468													False	0	False	X:54987327	0	A	54987327	G	A	54987327	4	1	64	1	0	0	0	0	0	1	0	0	11829	1153	40	1	1216	1	PFKFB1	23	54987327	Nonsense_Mutation	SNP	G	TCGA-HZ-8002-01A-11D-2201-08	4636655	54987327	100283233	107	5446											
SYTL4	94121	broad.mit.edu	37	chrX	99941732	99941732	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttgatgctggtttttcTttttccttggcgggacttgt	11	9	1	1			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:99941732T>C	ENST00000455616.1	-	13	1577	c.1231A>G	c.(1231-1233)Aga>Gga	p.R411G	SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000263033.5_Missense_Mutation_p.R411G|SYTL4_ENST00000276141.6_Missense_Mutation_p.R411G|SYTL4_ENST00000454200.2_Missense_Mutation_p.R413G|SYTL4_ENST00000372989.1_Missense_Mutation_p.R411G			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	411	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGGTTTTTCTTTTTCCTTGG	0.443													False	0	True	X:99941732	0	C	99941732	T	C	99941732	3	2	64	1	0	0	0	0	1	0	0	0	15567	1617	56	4	808	4	SYTL4	23	99941732	Missense_Mutation	SNP	T	TCGA-HZ-8002-01A-11D-2201-08	44954405	99941732	55328828	108	5447											
GPRASP1	9737	broad.mit.edu	37	chrX	101909010	101909011	+	Frame_Shift_Ins	INS	-	-	GTACTAT													aaggcccaagaataagtccaINSaggttatgcctggagcaagc							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:101909010_101909011insGTACTAT	ENST00000361600.5	+	5	970_971	c.169_170insGTACTAT	c.(169-171)aagfs	p.K57fs	GPRASP1_ENST00000415986.1_Frame_Shift_Ins_p.K57fs|GPRASP1_ENST00000444152.1_Frame_Shift_Ins_p.K57fs|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Frame_Shift_Ins_p.K57fs	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	57						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAATAAGTCCAAGGTTATGCCT	0.53													False	0	False	X:101909010	0	GTACTAT	101909011	-	GTACTAT	101909010	7	5	64	1	0	1	1	0	0	0	0	0	6769	131	5	0	171	0	GPRASP1	23	101909010	Frame_Shift_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	1967278	101909010	53361550	109	5448											
CSAG1	158511	broad.mit.edu	37	chrX	151904512	151904513	+	In_Frame_Ins	INS	-	-	GAT													tttgcttgtaatgtcggcgaINSctacaggtaaggcactaaat							TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:151904512_151904513insGAT	ENST00000370291.2	+	3	290_291	c.10_11insGAT	c.(10-12)act>aGATct	p.4_4T>RS	CSAG1_ENST00000452779.2_In_Frame_Ins_p.4_4T>RS|CSAG1_ENST00000370287.3_In_Frame_Ins_p.4_4T>RS			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	4										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTCGGCGACTACAGGTAAG	0.356													False	0	False	X:151904512	0	GAT	151904513	-	GAT	151904512	7	5	64	1	0	1	1	0	0	0	0	0	3949	275	10	0	12	0	CSAG1	23	151904512	In_Frame_Ins	INS	-	TCGA-HZ-8002-01A-11D-2201-08	49995502	151904512	3366048	110	5449											
KDM1A	23028	broad.mit.edu	37	chr1	23376993	23376993	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aacagacccagaaggtttttCttttcattagaaaccgcaca	6	10	2	3			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:23376993C>G	ENST00000400181.4	+	4	795	c.691C>G	c.(691-693)Ctt>Gtt	p.L231V	KDM1A_ENST00000542151.1_Missense_Mutation_p.L231V|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.L211V	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	211	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAAGGTTTTTCTTTTCATTAG	0.383													False	0	True	1:23376993	0	G	23376993	C	G	23376993	3	3	65	1	0	0	0	0	1	0	0	0	8172	913	32	5	705	5	KDM1A	1	23376993	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08		23376993	225873628	1	5450											
LPAR3	23566	broad.mit.edu	37	chr1	85279808	85279808	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcctgcagttcaggccgtcGaggagcagaaccaccaggcc	13	14	1	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:85279808G>A	ENST00000440886.1	-	2	821	c.783C>T	c.(781-783)ctC>ctT	p.L261L	LPAR3_ENST00000370611.3_Silent_p.L261L|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	261					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCAGGCCGTCGAGGAGCAGAA	0.582													False	0	False	1:85279808	0	A	85279808	G	A	85279808	2	1	65	1	0	0	0	0	0	0	0	1	8968	1045	37	1		1	LPAR3	1	85279808	Silent	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	61902815	85279808	163970813	2	5451											
TXNIP	10628	broad.mit.edu	37	chr1	145440118	145440118	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgtctctgctcgaatTgacagaaaaggattctgtga	11	7	3	3			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:145440118T>A	ENST00000369317.4	+	4	886	c.552T>A	c.(550-552)atT>atA	p.I184I	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	184					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGCTCGAATTGACAGAAAAG	0.448													False	0	False	1:145440118	0	A	145440118	T	A	145440118	2	1	65	1	0	0	0	0	0	0	0	1	16887	1800	63	5		5	TXNIP	1	145440118	Silent	SNP	T	TCGA-HZ-8003-01A-21D-2201-08	60160310	145440118	103810503	3	5452											
SPTA1	6708	broad.mit.edu	37	chr1	158631116	158631116	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tcccctttctgttatctcttGaatgcgtggttcatggctgg	10	10	3	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:158631116G>C	ENST00000368147.4	-	18	2728	c.2548C>G	c.(2548-2550)Caa>Gaa	p.Q850E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTATCTCTTGAATGCGTGGT	0.443													False	0	False	1:158631116	0	C	158631116	G	C	158631116	3	2	65	1	0	0	0	0	1	0	0	0	15198	1299	45	5	4851	5	SPTA1	1	158631116	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	13190998	158631116	90619505	4	5453											
ASPM	259266	broad.mit.edu	37	chr1	197062202	197062202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttttcgtactagccaacCacgcaccagtgcttgtagga	8	12	1	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:197062202C>T	ENST00000367409.4	-	21	9530	c.9274G>A	c.(9274-9276)Ggt>Agt	p.G3092S	ASPM_ENST00000367408.1_Missense_Mutation_p.G757S|ASPM_ENST00000294732.7_Missense_Mutation_p.G1507S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3092	IQ 37.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTAGCCAACCACGCACCAGT	0.323													False	0	False	1:197062202	0	T	197062202	C	T	197062202	3	4	65	1	0	0	0	0	1	0	0	0	1060	594	21	2	1191	2	ASPM	1	197062202	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	38431086	197062202	52188419	5	5454											
AVPR1B	553	broad.mit.edu	37	chr1	206230924	206230924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccgcggcccctgcgtcacCttgcctgctgtgggggtccc	13	17	1	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:206230924C>A	ENST00000367126.4	+	2	1522	c.1057C>A	c.(1057-1059)Ctt>Att	p.L353I		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	353					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCTGCGTCACCTTGCCTGCTG	0.652													False	0	False	1:206230924	0	A	206230924	C	A	206230924	3	1	65	1	0	0	0	0	1	0	0	0	1236	681	24	3	1063	3	AVPR1B	1	206230924	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	9168722	206230924	43019697	6	5455											
OR2T4	127074	broad.mit.edu	37	chr1	248525328	248525329	+	Frame_Shift_Ins	INS	-	-	TA													gaatttttccttctagccacINScatggcctatgaccgctacg					rs143808713	by1000genomes	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:248525328_248525329insTA	ENST00000366475.1	+	1	446_447	c.446_447insTA	c.(445-450)accatgfs	p.M150fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M150fs*20(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTCTAGCCACCATGGCCTATG	0.525													False	0	False	1:248525328	0	TA	248525329	-	TA	248525328	7	5	65	1	0	1	1	0	0	0	0	0	11095	507	18	0	448	0	OR2T4	1	248525328	Frame_Shift_Ins	INS	-	TCGA-HZ-8003-01A-21D-2201-08	42294404	248525328	725293	7	5456											
FAM179A	165186	broad.mit.edu	37	chr2	29274886	29274886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtccttgggaggcagccGcaaggccactgacagagggg	17	10	0	3			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:29274886G>A	ENST00000379558.4	+	20	3338	c.2987G>A	c.(2986-2988)cGc>cAc	p.R996H	FAM179A_ENST00000403861.2_Missense_Mutation_p.R941H|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	996							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGGCAGCCGCAAGGCCACT	0.557													False	0	False	2:29274886	0	A	29274886	G	A	29274886	3	1	65	1	0	0	0	0	1	0	0	0	5541	1087	38	1	3061	1	FAM179A	2	29274886	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08		29274886	213924487	8	5457											
RPS27A	6233	broad.mit.edu	37	chr2	55462084	55462084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaggttaagctggctgtcCtgaaatattataaggtgagc	12	5	0	3			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:55462084C>A	ENST00000272317.6	+	5	631	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	RPS27A_ENST00000404735.1_Missense_Mutation_p.L103M|RPS27A_ENST00000402285.3_Missense_Mutation_p.L103M	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	103					activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						GCTGGCTGTCCTGAAATATTA	0.383													False	0	False	2:55462084	0	A	55462084	C	A	55462084	3	1	65	1	0	0	0	0	1	0	0	0	13718	680	24	3	321	3	RPS27A	2	55462084	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	26187198	55462084	187737289	9	5458											
SLC4A5	57835	broad.mit.edu	37	chr2	74474203	74474203	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcgcacttgtaggtagtgatGaagtttggcttgaagtccat	12	6	0	3			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:74474203G>A	ENST00000394019.2	-	19	2416	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	SLC4A5_ENST00000358683.4_Silent_p.F609F|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Silent_p.F673F|SLC4A5_ENST00000377632.1_Silent_p.F673F|SLC4A5_ENST00000346834.4_Silent_p.F673F|SLC4A5_ENST00000423644.1_Silent_p.F673F|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Silent_p.F609F|SLC4A5_ENST00000377634.4_Silent_p.F673F	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	673						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGTAGTGATGAAGTTTGGCT	0.532													False	0	False	2:74474203	0	A	74474203	G	A	74474203	2	1	65	1	0	0	0	0	0	0	0	1	14737	1281	45	2		2	SLC4A5	2	74474203	Silent	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	19012119	74474203	168725170	10	5459											
RGPD1	400966	broad.mit.edu	37	chr2	87140987	87140987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcgatgaggcgcagcaaGgcctacggggagcggtacct	18	10	0	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:87140987G>A	ENST00000398193.3	+	1	53	c.15G>A	c.(13-15)aaG>aaA	p.K5K	RGPD1_ENST00000409776.2_Intron			Q68DN6	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1	0					intracellular transport		binding			breast(1)|endometrium(1)|lung(1)	3						GGCGCAGCAAGGCCTACGGGG	0.672													False	0	False	2:87140987	0	A	87140987	G	A	87140987	2	1	65	1	0	0	0	0	0	0	0	1	13364	991	35	2		2	RGPD1	2	87140987	Silent	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	12666784	87140987	156058386	11	5460											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	65	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-HZ-8003-01A-21D-2201-08	10706378	97847365	145352008	12	5461											
TTN	7273	broad.mit.edu	37	chr2	179614657	179614657	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttcttgtaacatttttggtGgttcattagtaatatcagac	7	5	3	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:179614657G>C	ENST00000360870.5	-	46	12692	c.12470C>G	c.(12469-12471)cCa>cGa	p.P4157R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3502							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTTTGGTGGTTCATTAGT	0.388													False	0	False	2:179614657	0	C	179614657	G	C	179614657	3	2	65	1	0	0	0	0	1	0	0	0	16819	1348	47	5	97827	5	TTN	2	179614657	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	81767292	179614657	63584716	13	5462											
HACL1	26061	broad.mit.edu	37	chr3	15613278	15613278	+	Splice_Site	DEL	T	T	-													tatcaagttcctctaaaagcTtaaaaaaaaaaaaacacaca							TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:15613278delT	ENST00000451445.2	-	9	871		c.e9-2		HACL1_ENST00000435217.2_Splice_Site|HACL1_ENST00000456194.2_Splice_Site|HACL1_ENST00000457447.2_Intron|HACL1_ENST00000321169.5_Splice_Site			Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1						fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTCTAAAAGCTTAAAAAAAAA	0.323													False	2	False	3:15613278	0	-	15613278	T	-	15613278	8	5	65	1	0	1	0	1	0	0	1	0	6988	1623	56	0	768	0	HACL1	3	15613278	Splice_Site	DEL	T	TCGA-HZ-8003-01A-21D-2201-08		15613278	182409152	14	5463											
TOMM70A	9868	broad.mit.edu	37	chr3	100092471	100092471	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgccactgcttcttcaacttGatcaaggagtattttcagct	7	10	4	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:100092471G>C	ENST00000284320.5	-	8	1694	c.1246C>G	c.(1246-1248)Caa>Gaa	p.Q416E		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	416					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TCTTCAACTTGATCAAGGAGT	0.358													False	0	False	3:100092471	0	C	100092471	G	C	100092471	3	2	65	1	0	0	0	0	1	0	0	0	16445	1299	45	5	600	5	TOMM70A	3	100092471	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	84479193	100092471	97929959	15	5464											
SLC12A8	84561	broad.mit.edu	37	chr3	124826478	124826478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcaacctgtcagagatctCgacagggaaagaaggagggg	17	7	2	2			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:124826478C>T	ENST00000423114.2	-	10	1638	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	SLC12A8_ENST00000430155.2_Missense_Mutation_p.E319K|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E518K|SLC12A8_ENST00000393469.4_Missense_Mutation_p.E518K|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Missense_Mutation_p.E271K			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	518					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TCAGAGATCTCGACAGGGAAA	0.552													False	0	False	3:124826478	0	T	124826478	C	T	124826478	3	4	65	1	0	0	0	0	1	0	0	0	14470	893	31	1	612	1	SLC12A8	3	124826478	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	24734007	124826478	73195952	16	5465											
IFT122	55764	broad.mit.edu	37	chr3	129214429	129214429	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgaaatgtacaccgacctCtgcatgtttgagtatgccaa	8	10	1	2			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:129214429C>T	ENST00000296266.3	+	19	2532	c.2340C>T	c.(2338-2340)ctC>ctT	p.L780L	IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000349441.2_Silent_p.L618L|IFT122_ENST00000431818.2_Silent_p.L579L|IFT122_ENST00000440957.2_Silent_p.L520L|IFT122_ENST00000347300.2_Silent_p.L670L|IFT122_ENST00000504021.1_Silent_p.L605L|IFT122_ENST00000507564.1_Silent_p.L721L|IFT122_ENST00000348417.2_Silent_p.L729L	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	729					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACACCGACCTCTGCATGTTTG	0.537													False	0	False	3:129214429	0	T	129214429	C	T	129214429	2	4	65	1	0	0	0	0	0	0	0	1	7605	900	32	2		2	IFT122	3	129214429	Silent	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	4387951	129214429	68808001	17	5466											
FAM13A	10144	broad.mit.edu	37	chr4	89950680	89950680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcggtgagcccctgccGttcaagttcttggagactga	11	11	3	3	rs114435452	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:89950680G>A	ENST00000264344.5	-	2	355	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	FAM13A_ENST00000515600.1_Missense_Mutation_p.R50W|FAM13A_ENST00000511976.1_De_novo_Start_InFrame|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000509094.1_Missense_Mutation_p.R50W	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	50	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGCCCCTGCCGTTCAAGTTCT	0.418													False	0	False	4:89950680	0	A	89950680	G	A	89950680	3	1	65	1	0	0	0	0	1	0	0	0	5488	1144	40	1	3048	1	FAM13A	4	89950680	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08		89950680	101203596	18	5467											
SLC45A2	51151	broad.mit.edu	37	chr5	33947401	33947401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagcccaataaatcccGtccccaggccaaacagcaaa	8	14	0	1	rs149980670		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:33947401G>A	ENST00000382102.3	-	6	1292	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	SLC45A2_ENST00000342059.3_Missense_Mutation_p.T353M|SLC45A2_ENST00000296589.4_Missense_Mutation_p.T412M	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	412					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.T412M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AATAAATCCCGTCCCCAGGCC	0.488													False	0	True	5:33947401	0	A	33947401	G	A	33947401	3	1	65	1	0	0	0	0	1	0	0	0	14721	1145	40	1	380	1	SLC45A2	5	33947401	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08		33947401	146967859	19	5468											
FGF10	2255	broad.mit.edu	37	chr5	44310627	44310628	+	Frame_Shift_Ins	INS	-	-	ACACCGAATAGCTTTGTTATCCTTCTATT													tctactgatgttatctccagINSgatgcctaaaacatacaatt							TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:44310627_44310628insACACCGAATAGCTTTGTTATCCTTCTATT	ENST00000264664.4	-	2	444_445	c.330_331insAATAGAAGGATAACAAAGCTATTCGGTGT	c.(328-333)atcctgfs	p.L111fs		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	111					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					GTTATCTCCAGGATGCCTAAAA	0.337													False	0	False	5:44310627	0	ACACCGAATAGCTTTGTTATCCTTCTATT	44310628	-	ACACCGAATAGCTTTGTTATCCTTCTATT	44310627	7	5	65	1	0	1	1	0	0	0	0	0	5879	991	35	0	303	0	FGF10	5	44310627	Frame_Shift_Ins	INS	-	TCGA-HZ-8003-01A-21D-2201-08	10363226	44310627	136604633	20	5469											
TNFAIP8	25816	broad.mit.edu	37	chr5	118728611	118728611	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcgccaccaccttaatagaCgacacaagtagtgaggtgct	9	11	0	2			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:118728611C>A	ENST00000504771.2	+	2	1909	c.132C>A	c.(130-132)gaC>gaA	p.D44E	TNFAIP8_ENST00000503646.1_Missense_Mutation_p.D44E|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.D46E|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.D56E|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.D34E	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	44					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding	p.D44D(1)		ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		CCTTAATAGACGACACAAGTA	0.463													False	0	False	5:118728611	0	A	118728611	C	A	118728611	3	1	65	1	0	0	0	0	1	0	0	0	16358	535	19	3	143	3	TNFAIP8	5	118728611	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	74417984	118728611	62186649	21	5470											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	65	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-HZ-8003-01A-21D-2201-08		7393450	163721617	22	5471											
TAP2	6891	broad.mit.edu	37	chr6	32800563	32800563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcccgcaccacctgcccCgccctggccactgcatcctg	8	22	0	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:32800563C>T	ENST00000374897.2	-	6	1115	c.984G>A	c.(982-984)gcG>gcA	p.A328A	TAP2_ENST00000452392.2_Silent_p.A328A|TAP2_ENST00000374899.4_Silent_p.A328A	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	328	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	p.A328A(1)									CCACCTGCCCCGCCCTGGCCA	0.592													False	0	True	6:32800563	0	T	32800563	C	T	32800563	2	4	65	1	0	0	0	0	0	0	0	1	15633	639	23	1		1	TAP2	6	32800563	Silent	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	25407113	32800563	138314504	23	5472											
MDN1	23195	broad.mit.edu	37	chr6	90448153	90448153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccatatttctgtaaaccGgtttcttaaggcaggagaca	9	9	2	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:90448153G>A	ENST00000369393.3	-	33	4730	c.4615C>T	c.(4615-4617)Cgg>Tgg	p.R1539W	MDN1_ENST00000428876.1_Missense_Mutation_p.R1539W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1539					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTGTAAACCGGTTTCTTAAG	0.378													False	0	False	6:90448153	0	A	90448153	G	A	90448153	3	1	65	1	0	0	0	0	1	0	0	0	9482	1115	39	1	12455	1	MDN1	6	90448153	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	57647590	90448153	80666914	24	5473											
POU3F2	5454	broad.mit.edu	37	chr6	99283224	99283224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatctggtgcaccacgccGctaaccaccacccgggaccc	9	20	1	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:99283224G>A	ENST00000328345.5	+	1	645	c.475G>A	c.(475-477)Gct>Act	p.A159T		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	159					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCACCACGCCGCTAACCACCA	0.682													False	0	False	6:99283224	0	A	99283224	G	A	99283224	3	1	65	1	0	0	0	0	1	0	0	0	12344	1087	38	1	477	1	POU3F2	6	99283224	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	8835071	99283224	71831843	25	5474											
LAMA4	3910	broad.mit.edu	37	chr6	112486440	112486440	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgtgctcagagacatgttCaccacttccatttgttccct	7	12	2	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:112486440C>T	ENST00000230538.7	-	13	1987	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	LAMA4_ENST00000389463.4_Silent_p.V523V|LAMA4_ENST00000424408.2_Silent_p.V523V|LAMA4_ENST00000522006.1_Silent_p.V523V|RP1-142L7.5_ENST00000585373.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	530	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAGACATGTTCACCACTTCCA	0.453													False	0	False	6:112486440	0	T	112486440	C	T	112486440	2	4	65	1	0	0	0	0	0	0	0	1	8659	813	29	2		2	LAMA4	6	112486440	Silent	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	13203216	112486440	58628627	26	5475											
TULP4	56995	broad.mit.edu	37	chr6	158924700	158924700	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggacagaaaaatttggaaaGaagaaccggaagcgcctgga	13	7	0	3			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:158924700G>C	ENST00000367097.3	+	13	5362	c.4005G>C	c.(4003-4005)aaG>aaC	p.K1335N	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1335					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AATTTGGAAAGAAGAACCGGA	0.537													False	0	True	6:158924700	0	C	158924700	G	C	158924700	3	2	65	1	0	0	0	0	1	0	0	0	16860	933	33	5	4055	5	TULP4	6	158924700	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	46438260	158924700	12190367	27	5476											
EZR	7430	broad.mit.edu	37	chr6	159197482	159197482	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgacaaactttttgtcAttgaaagagatgttcctgat	7	5	1	4			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:159197482A>G	ENST00000367075.3	-	8	921	c.753T>C	c.(751-753)aaT>aaC	p.N251N	EZR_ENST00000337147.7_Silent_p.N251N|EZR_ENST00000392177.4_Silent_p.N219N	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	251	FERM.|Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ACTTTTTGTCATTGAAAGAGA	0.378			T	ROS1	NSCLC								False	0	False	6:159197482	0	G	159197482	A	G	159197482	2	3	65	1	0	0	0	0	0	0	0	1	5368	214	8	4		4	EZR	6	159197482	Silent	SNP	A	TCGA-HZ-8003-01A-21D-2201-08	272782	159197482	11917585	28	5477											
FNDC1	84624	broad.mit.edu	37	chr6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-													agcagtcggtctcagccgagGacgacgaggaggaggacgcg							TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65													False	2	False	6:159655079	0	-	159655081	GAC	-	159655079	7	5	65	1	0	1	0	1	0	0	0	0	6008	1174	41	0	3577	0	FNDC1	6	159655079	In_Frame_Del	DEL	GAC	TCGA-HZ-8003-01A-21D-2201-08	457597	159655079	11459988	29	5478											
C7orf10	79783	broad.mit.edu	37	chr7	40899974	40899974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccgcccccgctgctcGggcagcacacaacgcacatc	10	20	0	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:40899974G>A	ENST00000309930.5	+	15	1336	c.1312G>A	c.(1312-1314)Ggg>Agg	p.G438R	C7orf10_ENST00000401647.2_Missense_Mutation_p.G364R|C7orf10_ENST00000335693.4_Missense_Mutation_p.G412R|C7orf10_ENST00000464028.1_3'UTR	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	412							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCCGCTGCTCGGGCAGCACAC	0.567													False	0	True	7:40899974	0	A	40899974	G	A	40899974	3	1	65	1	0	0	0	0	1	0	0	0	2395	1116	39	1	1259	1	C7orf10	7	40899974	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08		40899974	118238689	30	5479											
SRRT	51593	broad.mit.edu	37	chr7	100484026	100484027	+	Frame_Shift_Del	DEL	CT	CT	-													gacaggacacagctttgggcCtcagaaccagggacgcctcc							TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:100484026_100484027delCT	ENST00000388793.4	+	13	1834_1835	c.1614_1615delCT	c.(1612-1617)gcctcafs	p.S539fs	SRRT_ENST00000457580.2_Frame_Shift_Del_p.S540fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.S539fs|SRRT_ENST00000347433.4_Frame_Shift_Del_p.S540fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	540					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCTTTGGGCCTCAGAACCAGG	0.579													False	1	False	7:100484026	0	-	100484027	CT	-	100484026	7	5	65	1	0	1	0	1	0	0	0	0	15254	668	24	0	1663	0	SRRT	7	100484026	Frame_Shift_Del	DEL	CT	TCGA-HZ-8003-01A-21D-2201-08	59584052	100484026	58654637	31	5480											
IMPAD1	54928	broad.mit.edu	37	chr8	57905955	57905955	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgacacagccagcatctcgcGcaagtccacggtgcccccat	9	17	1	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:57905955G>C	ENST00000262644.4	-	1	448	c.190C>G	c.(190-192)Cgc>Ggc	p.R64G		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	64						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				AGCATCTCGCGCAAGTCCACG	0.741													False	0	False	8:57905955	0	C	57905955	G	C	57905955	3	2	65	1	0	0	0	0	1	0	0	0	7775	1087	38	5	909	5	IMPAD1	8	57905955	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08		57905955	88458067	32	5481											
TRPA1	8989	broad.mit.edu	37	chr8	72969219	72969219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttaaatgcagaaaattaCgtccaaaattatcttttatg	5	6	1	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:72969219C>T	ENST00000262209.4	-	10	1334	c.1127G>A	c.(1126-1128)cGt>cAt	p.R376H		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	376						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAGAAAATTACGTCCAAAATT	0.299													False	0	False	8:72969219	0	T	72969219	C	T	72969219	3	4	65	1	0	0	0	0	1	0	0	0	16660	536	19	1	2304	1	TRPA1	8	72969219	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	15063264	72969219	73394803	33	5482											
TRPS1	7227	broad.mit.edu	37	chr8	116430660	116430660	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggcaattggcacaaaaAacaccggagcctctacgcct	9	13	2	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:116430660A>T	ENST00000395715.3	-	6	3298	c.2721T>A	c.(2719-2721)gtT>gtA	p.V907V	TRPS1_ENST00000519076.1_Silent_p.V648V|TRPS1_ENST00000520276.1_Silent_p.V898V|TRPS1_ENST00000220888.5_Silent_p.V894V	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	894					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGCACAAAAAACACCGGAGC	0.488									Langer-Giedion syndrome				False	0	True	8:116430660	0	T	116430660	A	T	116430660	2	4	65	1	0	0	0	0	0	0	0	1	16676	1	1	5		5	TRPS1	8	116430660	Silent	SNP	A	TCGA-HZ-8003-01A-21D-2201-08	43461441	116430660	29933362	34	5483											
RECQL4	9401	broad.mit.edu	37	chr8	145741394	145741394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttgcggaggagcctgctaCggagtgcccggccccgcacg	16	15	0	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:145741394C>A	ENST00000428558.2	-	5	1150	c.1109G>T	c.(1108-1110)cGt>cTt	p.R370L	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	370					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GAGCCTGCTACGGAGTGCCCG	0.642			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				False	0	False	8:145741394	0	A	145741394	C	A	145741394	3	1	65	1	0	0	0	0	1	0	0	0	13281	536	19	3	2586	3	RECQL4	8	145741394	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	29310734	145741394	622628	35	5484											
WDR34	89891	broad.mit.edu	37	chr9	131403176	131403176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatgattcctggcctgggCggatgcactggcagtggcaa	14	11	0	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:131403176C>T	ENST00000372715.2	-	2	289	c.229G>A	c.(229-231)Gcc>Acc	p.A77T		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	77						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CTGGCCTGGGCGGATGCACTG	0.652													False	0	True	9:131403176	0	T	131403176	C	T	131403176	3	4	65	1	0	0	0	0	1	0	0	0	17372	768	27	1	1413	1	WDR34	9	131403176	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08		131403176	9810255	36	5485											
VPS26A	9559	broad.mit.edu	37	chr10	70917965	70917966	+	In_Frame_Ins	INS	-	-	GCAAACATT													aatttgaatataataaatcaINSaagtaagtatcattcacaga							TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr10:70917965_70917966insGCAAACATT	ENST00000373382.1	+	6	1202_1203	c.549_550insGCAAACATT	c.(550-552)aag>GCAAACATTaag	p.183_184insANI	VPS26A_ENST00000546041.1_In_Frame_Ins_p.166_167insANI|VPS26A_ENST00000541711.1_In_Frame_Ins_p.72_73insANI|VPS26A_ENST00000395098.1_In_Frame_Ins_p.183_184insANI|VPS26A_ENST00000490696.1_Intron|VPS26A_ENST00000263559.6_In_Frame_Ins_p.183_184insANI|VPS26A_ENST00000489794.1_In_Frame_Ins_p.158_159insANI			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	183					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ATAATAAATCAAAGTAAGTATC	0.312													False	0	True	10:70917965	0	GCAAACATT	70917966	-	GCAAACATT	70917965	7	5	65	1	0	1	1	0	0	0	0	0	17281	117	5	0	567	0	VPS26A	10	70917965	In_Frame_Ins	INS	-	TCGA-HZ-8003-01A-21D-2201-08		70917965	64616782	37	5486											
SLC22A8	9376	broad.mit.edu	37	chr11	62760741	62760741	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcctggtccgtgaggctGtagagggatcctctgggagg	18	9	1	2			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:62760741G>A	ENST00000336232.2	-	11	1732	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	SLC22A8_ENST00000311438.8_3'UTR|SLC22A8_ENST00000545207.1_Nonsense_Mutation_p.Q442*|SLC22A8_ENST00000430500.2_Nonsense_Mutation_p.Q533*|SLC22A8_ENST00000535878.1_Nonsense_Mutation_p.Q410*	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	533					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CCGTGAGGCTGTAGAGGGATC	0.607													False	0	False	11:62760741	0	A	62760741	G	A	62760741	4	1	65	1	0	0	0	0	0	1	0	0	14540	1386	48	2	35	2	SLC22A8	11	62760741	Nonsense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08		62760741	72245775	38	5487											
KDM2A	22992	broad.mit.edu	37	chr11	67018096	67018096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaggaggaGgaagatgacagtgcagagga	21	2	0	4			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:67018096G>A	ENST00000529006.2	+	17	3041	c.2595G>A	c.(2593-2595)gaG>gaA	p.E865E	KDM2A_ENST00000308783.5_Silent_p.E323E|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_Silent_p.E426E|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	865					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						aggaggaggaggaagaTGACA	0.667													False	0	True	11:67018096	0	A	67018096	G	A	67018096	2	1	65	1	0	0	0	0	0	0	0	1	8174	991	35	2		2	KDM2A	11	67018096	Silent	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	4257355	67018096	67988420	39	5488											
SHANK2	22941	broad.mit.edu	37	chr11	70332827	70332827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggctgtgccgctgctcgCggagggcactgctgggctgc	18	14	0	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:70332827C>T	ENST00000338508.4	-	32	3573	c.3574G>A	c.(3574-3576)Gcg>Acg	p.A1192T	SHANK2_ENST00000409161.1_Missense_Mutation_p.A595T|SHANK2_ENST00000423696.2_Missense_Mutation_p.A812T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A596T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	812					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCGCTGCTCGCGGAGGGCACT	0.706													False	0	False	11:70332827	0	T	70332827	C	T	70332827	3	4	65	1	0	0	0	0	1	0	0	0	14346	768	27	1	1986	1	SHANK2	11	70332827	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	3314731	70332827	64673689	40	5489											
OR10G4	390264	broad.mit.edu	37	chr11	123886737	123886737	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttggctcagtggctcTctgcactctgctgtccagac	11	14	3	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:123886737T>C	ENST00000320891.4	+	1	456	c.456T>C	c.(454-456)tcT>tcC	p.S152S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCAGTGGCTCTCTGCACTCTG	0.562													False	0	True	11:123886737	0	C	123886737	T	C	123886737	2	2	65	1	0	0	0	0	0	0	0	1	10969	1538	54	4		4	OR10G4	11	123886737	Silent	SNP	T	TCGA-HZ-8003-01A-21D-2201-08	53553910	123886737	11119779	41	5490											
DCP1B	196513	broad.mit.edu	37	chr12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG													gctgctgctgctgctgctgcINStggtggagagtctgcggagg							TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:2062350_2062351insTGG	ENST00000540622.1	-	4	435_436	c.377_378insCCA	c.(376-378)cag>caCCAg	p.125_126insH	DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000280665.6_In_Frame_Ins_p.251_252insH			Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.55													False	2	True	12:2062350	0	TGG	2062351	-	TGG	2062350	7	5	65	1	0	1	1	0	0	0	0	0	4324	796	28	0	1109	0	DCP1B	12	2062350	In_Frame_Ins	INS	-	TCGA-HZ-8003-01A-21D-2201-08		2062350	131789545	42	5491											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	65	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	23335935	25398285	108453610	43	5492											
KRT2	3849	broad.mit.edu	37	chr12	53045775	53045777	+	In_Frame_Del	DEL	CCG	CCG	-													agccgcctccaccgaagcccCcgccaccaccaccatggcgg					rs11835758	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	CCG	CCG	-	-	CCG	CCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:53045775_53045777delCCG	ENST00000309680.3	-	1	171_173	c.150_152delCGG	c.(148-153)ggcggg>ggg	p.50_51GG>G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	50	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ACCGAAGCCCCCGCCACCACCAC	0.621													False	1	True	12:53045775	0	-	53045777	CCG	-	53045775	7	5	65	1	0	1	0	1	0	0	0	0	8507	623	22	0	1803	0	KRT2	12	53045775	In_Frame_Del	DEL	CCG	TCGA-HZ-8003-01A-21D-2201-08	27647490	53045775	80806120	44	5493											
RPH3A	22895	broad.mit.edu	37	chr12	113303278	113303278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggagatggggtgaaccGctgcatactgtgtggagaac	17	7	0	3			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:113303278G>A	ENST00000389385.4	+	6	787	c.290G>A	c.(289-291)cGc>cAc	p.R97H	RPH3A_ENST00000415485.3_Missense_Mutation_p.R97H|RPH3A_ENST00000551052.1_Missense_Mutation_p.R93H|RPH3A_ENST00000548866.1_Missense_Mutation_p.R48H|RPH3A_ENST00000447659.2_Missense_Mutation_p.R48H|RPH3A_ENST00000420983.2_Missense_Mutation_p.R97H|RPH3A_ENST00000543106.2_Missense_Mutation_p.R97H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	97	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGGGTGAACCGCTGCATACTG	0.522													False	0	False	12:113303278	0	A	113303278	G	A	113303278	3	1	65	1	0	0	0	0	1	0	0	0	13630	1087	38	1	304	1	RPH3A	12	113303278	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	60257503	113303278	20548617	45	5494											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465897	24465897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccagcctcttattcccCggactcctggctcaccctgg	7	18	2	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr13:24465897C>T	ENST00000382137.3	-	3	601	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R178Q|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	178	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCTTATTCCCCGGACTCCTGG	0.587													False	0	True	13:24465897	0	T	24465897	C	T	24465897	3	4	65	1	0	0	0	0	1	0	0	0	1986	652	23	1	471	1	C1QTNF9B	13	24465897	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08		24465897	90703981	46	5495											
HNRNPC	3183	broad.mit.edu	37	chr14	21680019	21680019	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttccaggttttccaggagaGaatccactttttgttttatc	7	8	0	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:21680019G>T	ENST00000430246.2	-	6	3538	c.587C>A	c.(586-588)tCt>tAt	p.S196Y	HNRNPC_ENST00000336053.6_Missense_Mutation_p.S196Y|HNRNPC_ENST00000420743.2_Missense_Mutation_p.S209Y|HNRNPC_ENST00000555883.1_Missense_Mutation_p.S153Y|HNRNPC_ENST00000449098.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000553753.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000555309.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000556142.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000320084.7_Missense_Mutation_p.S209Y|HNRNPC_ENST00000556897.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000556513.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000557201.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000554969.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000556628.1_Missense_Mutation_p.S129Y|HNRNPC_ENST00000553300.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000555914.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000554455.1_Missense_Mutation_p.S209Y			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	209	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TTCCAGGAGAGAATCCACTTT	0.363													False	0	True	14:21680019	0	T	21680019	G	T	21680019	3	4	65	1	0	0	0	0	1	0	0	0	7309	942	33	3	306	3	HNRNPC	14	21680019	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08		21680019	85669521	47	5496											
SYNE2	23224	broad.mit.edu	37	chr14	64580216	64580216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggctgcaacaagccaAcgtggcagttgagccggaaa	14	10	0	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:64580216A>G	ENST00000357395.3	+	67	13066	c.1922A>G	c.(1921-1923)aAc>aGc	p.N641S	SYNE2_ENST00000394768.2_Missense_Mutation_p.N641S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N4256S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.N890S|SYNE2_ENST00000344113.4_Missense_Mutation_p.N4256S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N4271S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4256					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAACAAGCCAACGTGGCAGTT	0.577													False	0	False	14:64580216	0	G	64580216	A	G	64580216	3	3	65	1	0	0	0	0	1	0	0	0	15528	43	2	4	13025	4	SYNE2	14	64580216	Missense_Mutation	SNP	A	TCGA-HZ-8003-01A-21D-2201-08	42900197	64580216	42769324	48	5497											
CYP1A2	1544	broad.mit.edu	37	chr15	75047332	75047332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggagttcagcgtgccgcCgggcgtgaaagtcgacctga	15	11	1	2			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr15:75047332C>T	ENST00000343932.4	+	7	1517	c.1454C>T	c.(1453-1455)cCg>cTg	p.P485L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	485					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AGCGTGCCGCCGGGCGTGAAA	0.617													False	0	True	15:75047332	0	T	75047332	C	T	75047332	3	4	65	1	0	0	0	0	1	0	0	0	4175	652	23	1	1476	1	CYP1A2	15	75047332	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08		75047332	27484060	49	5498											
WDR90	197335	broad.mit.edu	37	chr16	716059	716059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttcagcgtctcccgcaCggccatggagctcaagatgc	10	15	4	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:716059C>T	ENST00000549091.1	+	36	4642	c.4550C>T	c.(4549-4551)aCg>aTg	p.T1517M	WDR90_ENST00000315764.4_Missense_Mutation_p.T114M|WDR90_ENST00000547944.1_Missense_Mutation_p.T114M|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000293879.4_Missense_Mutation_p.T1515M	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1515										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTCTCCCGCACGGCCATGGAG	0.677													False	0	False	16:716059	0	T	716059	C	T	716059	3	4	65	1	0	0	0	0	1	0	0	0	17421	536	19	1	4686	1	WDR90	16	716059	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08		716059	89638694	50	5499											
SRCAP	10847	broad.mit.edu	37	chr16	30723229	30723229	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaagtggaagttcagcAtcagaggaatctgagtctga	12	6	4	3			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:30723229A>G	ENST00000262518.4	+	12	1951	c.1566A>G	c.(1564-1566)gcA>gcG	p.A522A	SRCAP_ENST00000344771.4_Silent_p.A522A|SRCAP_ENST00000395059.2_Silent_p.A522A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	522	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAAGTTCAGCATCAGAGGAAT	0.483													False	0	False	16:30723229	0	G	30723229	A	G	30723229	2	3	65	1	0	0	0	0	0	0	0	1	15217	204	8	4		4	SRCAP	16	30723229	Silent	SNP	A	TCGA-HZ-8003-01A-21D-2201-08	30007170	30723229	59631524	51	5500											
ANKRD11	29123	broad.mit.edu	37	chr16	89346134	89346134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgttcggggcggggccGtcaggggcacagagggacgc	20	10	1	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:89346134G>A	ENST00000301030.4	-	9	7276	c.6816C>T	c.(6814-6816)gaC>gaT	p.D2272D	ANKRD11_ENST00000378330.2_Silent_p.D2272D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2272	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGGCGGGGCCGTCAGGGGCAC	0.756													False	0	False	16:89346134	0	A	89346134	G	A	89346134	2	1	65	1	0	0	0	0	0	0	0	1	639	1136	40	1		1	ANKRD11	16	89346134	Silent	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	58622905	89346134	1008619	52	5501											
TP53	7157	broad.mit.edu	37	chr17	7579317	7579317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggcaactgaccgtgcAagtcacagacttggctgtcc	11	13	2	2			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:7579317A>G	ENST00000420246.2	-	4	502	c.370T>C	c.(370-372)Tgc>Cgc	p.C124R	TP53_ENST00000359597.4_Missense_Mutation_p.C124R|TP53_ENST00000413465.2_Missense_Mutation_p.C124R|TP53_ENST00000445888.2_Missense_Mutation_p.C124R|TP53_ENST00000269305.4_Missense_Mutation_p.C124R|TP53_ENST00000455263.2_Missense_Mutation_p.C124R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	124	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.C124G(4)|p.C124R(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.C124fs*46(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124fs*48(1)|p.C124fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGACCGTGCAAGTCACAGAC	0.542		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)			False	0	False	17:7579317	0	G	7579317	A	G	7579317	3	3	65	1	0	0	0	0	1	0	0	0	16464	130	5	4	932	4	TP53	17	7579317	Missense_Mutation	SNP	A	TCGA-HZ-8003-01A-21D-2201-08		7579317	73615893	53	5502											
DHX58	79132	broad.mit.edu	37	chr17	40262918	40262918	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtggcactcatccaccacGatcagggagaagactgaggg	14	10	2	3			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:40262918G>A	ENST00000251642.3	-	5	606	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	128	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATCCACCACGATCAGGGAGA	0.542													False	0	False	17:40262918	0	A	40262918	G	A	40262918	2	1	65	1	0	0	0	0	0	0	0	1	4544	1048	37	1		1	DHX58	17	40262918	Silent	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	32683601	40262918	40932292	54	5503											
PDK2	5164	broad.mit.edu	37	chr17	48187345	48187345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccacggactcggtggagCgcctgcctgtctacaacaag	12	13	1	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:48187345C>A	ENST00000503176.1	+	11	1269	c.1108C>A	c.(1108-1110)Cgc>Agc	p.R370S	PDK2_ENST00000007708.3_Missense_Mutation_p.R306S	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	370					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CTCGGTGGAGCGCCTGCCTGT	0.662									Autosomal Dominant Polycystic Kidney Disease				False	0	True	17:48187345	0	A	48187345	C	A	48187345	3	1	65	1	0	0	0	0	1	0	0	0	11744	768	27	3	1150	3	PDK2	17	48187345	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	7924427	48187345	33007865	55	5504											
NOTUM	147111	broad.mit.edu	37	chr17	79910974	79910974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgtgaactggtctcggaCggtggggcatgaggggttgc	18	10	1	2			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:79910974C>T	ENST00000409678.3	-	11	1737	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	452						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGGTCTCGGACGGTGGGGCAT	0.662													False	0	False	17:79910974	0	T	79910974	C	T	79910974	3	4	65	1	0	0	0	0	1	0	0	0	10620	536	19	1	140	1	NOTUM	17	79910974	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	31723629	79910974	1284236	56	5505											
AP3D1	8943	broad.mit.edu	37	chr19	2110781	2110781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggccatcctggcattgaGtgagtccagcacgctgagct	13	13	0	3			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:2110781G>A	ENST00000355272.6	-	27	3306	c.3100C>T	c.(3100-3102)Ctc>Ttc	p.L1034F	AP3D1_ENST00000356926.4_Missense_Mutation_p.L931F|AP3D1_ENST00000350812.6_Missense_Mutation_p.L803F|AP3D1_ENST00000345016.5_Missense_Mutation_p.L972F	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	972					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCATTGAGTGAGTCCAGC	0.667													False	0	True	19:2110781	0	A	2110781	G	A	2110781	3	1	65	1	0	0	0	0	1	0	0	0	748	1029	36	2	571	2	AP3D1	19	2110781	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08		2110781	57018202	57	5506											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													False	0	True	19:9090831	0	G	9090831	A	G	9090831	2	3	65	1	0	0	0	0	0	0	0	1	10040	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-HZ-8003-01A-21D-2201-08	6980050	9090831	50038152	58	5507											
SPC24	147841	broad.mit.edu	37	chr19	11258504	11258504	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggatactgcctttgacCatccctggctcacactcata	6	13	2	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:11258504C>A	ENST00000592540.1	-	4	508	c.477G>T	c.(475-477)atG>atT	p.M159I		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component	159	Interaction with the C-terminus of SPBC25.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						TGCCTTTGACCATCCCTGGCT	0.413													False	0	False	19:11258504	0	A	11258504	C	A	11258504	3	1	65	1	0	0	0	0	1	0	0	0	15103	594	21	3	124	3	SPC24	19	11258504	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	2167673	11258504	47870479	59	5508											
CCDC159	126075	broad.mit.edu	37	chr19	11464523	11464523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcactttgtgctcggggGcctgtcccaaggcctcgagc	13	15	1	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:11464523G>T	ENST00000588790.1	+	11	1192	c.745G>T	c.(745-747)Gcc>Tcc	p.A249S	CCDC159_ENST00000458408.1_Missense_Mutation_p.A249S			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	364										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GTGCTCGGGGGCCTGTCCCAA	0.587													False	0	True	19:11464523	0	T	11464523	G	T	11464523	3	4	65	1	0	0	0	0	1	0	0	0	2812	1203	42	3	779	3	CCDC159	19	11464523	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	206019	11464523	47664460	60	5509											
ELAVL3	1995	broad.mit.edu	37	chr19	11565684	11565684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgagaacctggcgatgagcGacaggggactactttggggg	18	8	0	2	rs143463189		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:11565684G>A	ENST00000359227.3	-	7	1185	c.761C>T	c.(760-762)tCg>tTg	p.S254L	ELAVL3_ENST00000438662.2_Intron	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	254					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGCGATGAGCGACAGGGGACT	0.677													False	0	False	19:11565684	0	A	11565684	G	A	11565684	3	1	65	1	0	0	0	0	1	0	0	0	5083	1059	37	1	346	1	ELAVL3	19	11565684	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08	101161	11565684	47563299	61	5510											
ZNF442	79973	broad.mit.edu	37	chr19	12462842	12462842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accttaggctcctcctgggaTttctgtgctgatcttcaatg	9	11	3	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:12462842T>C	ENST00000242804.4	-	5	830	c.248A>G	c.(247-249)aAt>aGt	p.N83S	ZNF442_ENST00000438182.1_Missense_Mutation_p.N14S	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	83	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CCTCCTGGGATTTCTGTGCTG	0.358													False	0	True	19:12462842	0	C	12462842	T	C	12462842	3	2	65	1	0	0	0	0	1	0	0	0	17998	1493	52	4	1643	4	ZNF442	19	12462842	Missense_Mutation	SNP	T	TCGA-HZ-8003-01A-21D-2201-08	897158	12462842	46666141	62	5511											
CYP4F11	57834	broad.mit.edu	37	chr19	16024638	16024638	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcggggttcagtgtgggtCggcaggatgcggaagtgcag	20	7	1	0	rs143714626	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:16024638C>T	ENST00000402119.4	-	12	1905	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P	CYP4F11_ENST00000591841.1_Silent_p.P168P|CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000248041.8_Silent_p.P493P	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CAGTGTGGGTCGGCAGGATGC	0.627													False	0	False	19:16024638	0	T	16024638	C	T	16024638	2	4	65	1	0	0	0	0	0	0	0	1	4211	871	31	1		1	CYP4F11	19	16024638	Silent	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	3561796	16024638	43104345	63	5512											
ZNF134	7693	broad.mit.edu	37	chr19	58131705	58131705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaccagggtacacaccAtggactgaaacttcacacat	7	12	1	2			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:58131705A>G	ENST00000396161.5	+	3	528	c.218A>G	c.(217-219)cAt>cGt	p.H73R	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	73						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGTACACACCATGGACTGAAA	0.488													False	0	False	19:58131705	0	G	58131705	A	G	58131705	3	3	65	1	0	0	0	0	1	0	0	0	17807	217	8	4	224	4	ZNF134	19	58131705	Missense_Mutation	SNP	A	TCGA-HZ-8003-01A-21D-2201-08	42107067	58131705	997278	64	5513											
ZNF831	128611	broad.mit.edu	37	chr20	57768617	57768617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaccccaggtgggcccaCgcagcctgcctctttgtcat	11	15	2	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:57768617C>T	ENST00000371030.2	+	1	2543	c.2543C>T	c.(2542-2544)aCg>aTg	p.T848M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	848						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTGGGCCCACGCAGCCTGCC	0.637													False	0	False	20:57768617	0	T	57768617	C	T	57768617	3	4	65	1	0	0	0	0	1	0	0	0	18267	536	19	1	2545	1	ZNF831	20	57768617	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08		57768617	5256903	65	5514											
LRRC3	81543	broad.mit.edu	37	chr21	45877295	45877295	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggaccccatcggcccgggGccctagcgcctgttccggca	13	17	0	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr21:45877295G>T	ENST00000291592.4	+	2	1085	c.768G>T	c.(766-768)ggG>ggT	p.G256G		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	256						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCGGCCCGGGGCCCTAGCGCC	0.637													False	0	True	21:45877295	0	T	45877295	G	T	45877295	2	4	65	1	0	0	0	0	0	0	0	1	9046	1190	42	3		3	LRRC3	21	45877295	Silent	SNP	G	TCGA-HZ-8003-01A-21D-2201-08		45877295	2252600	66	5515											
CACNA1I	8911	broad.mit.edu	37	chr22	40075752	40075752	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cctgtggctggacagcgtctCtttaatcatcaaggactcct	9	12	3	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:40075752C>G	ENST00000336649.4	+	36	5438	c.5438C>G	c.(5437-5439)tCt>tGt	p.S1813C	CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1772C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1772C|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S1807C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1772C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1807C			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1807					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GACAGCGTCTCTTTAATCATC	0.632													False	0	True	22:40075752	0	G	40075752	C	G	40075752	3	3	65	1	0	0	0	0	1	0	0	0	2566	913	32	5	5550	5	CACNA1I	22	40075752	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08		40075752	11228814	67	5516											
TUBGCP6	85378	broad.mit.edu	37	chr22	50664531	50664531	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttccgcagacgtatatgTcgtgggcaatgtgcttcaga	11	9	2	2			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:50664531T>C	ENST00000439308.2	-	9	2273	c.1781A>G	c.(1780-1782)gAc>gGc	p.D594G	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.D594G|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	594					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GACGTATATGTCGTGGGCAAT	0.557													False	0	False	22:50664531	0	C	50664531	T	C	50664531	3	2	65	1	0	0	0	0	1	0	0	0	16854	1667	58	4	3746	4	TUBGCP6	22	50664531	Missense_Mutation	SNP	T	TCGA-HZ-8003-01A-21D-2201-08	10588779	50664531	640035	68	5517											
TFE3	7030	broad.mit.edu	37	chrX	48887764	48887764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggatcggaggcagcccGcagtggggacagggcacccc	18	13	0	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:48887764G>A	ENST00000315869.7	-	10	1892	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	545					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GAGGCAGCCCGCAGTGGGGAC	0.662			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								False	0	True	X:48887764	0	A	48887764	G	A	48887764	3	1	65	1	0	0	0	0	1	0	0	0	15882	1086	38	1	98	1	TFE3	23	48887764	Missense_Mutation	SNP	G	TCGA-HZ-8003-01A-21D-2201-08		48887764	106382796	69	5518											
MED12	9968	broad.mit.edu	37	chrX	70360666	70360666	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcagcagcagcagcagCagtaccacatccggcagcag	11	14	0	0			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:70360666C>T	ENST00000333646.6	+	42	6434	c.6235C>T	c.(6235-6237)Cag>Tag	p.Q2079*	MED12_ENST00000374080.3_Nonsense_Mutation_p.Q2076*|MED12_ENST00000374102.1_Nonsense_Mutation_p.Q2075*	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					gcagcagcagcagtaccacat	0.597			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						False	0	True	X:70360666	0	T	70360666	C	T	70360666	4	4	65	1	0	0	0	0	0	1	0	0	9495	711	25	2	6392	2	MED12	23	70360666	Nonsense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	21472902	70360666	84909894	70	5519											
MAP7D3	79649	broad.mit.edu	37	chrX	135313711	135313711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttgacaaacctttggagCgtctctcgcttttgccttgg	9	12	1	1			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:135313711C>T	ENST00000316077.9	-	8	1625	c.1405G>A	c.(1405-1407)Gct>Act	p.A469T	MAP7D3_ENST00000370661.1_Missense_Mutation_p.A434T|MAP7D3_ENST00000370663.5_Missense_Mutation_p.A451T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	469						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACCTTTGGAGCGTCTCTCGCT	0.428													False	0	False	X:135313711	0	T	135313711	C	T	135313711	3	4	65	1	0	0	0	0	1	0	0	0	9336	768	27	1	1269	1	MAP7D3	23	135313711	Missense_Mutation	SNP	C	TCGA-HZ-8003-01A-21D-2201-08	64953045	135313711	19956849	71	5520											
MIB2	142678	broad.mit.edu	37	chr1	1565062	1565062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcatcaggtgccaggtggtCgtcagcaagaaactgcgccc	13	12	2	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:1565062C>T	ENST00000378712.1	+	17	2555	c.2230C>T	c.(2230-2232)Cgt>Tgt	p.R744C	MIB2_ENST00000518681.1_Silent_p.V919V|MIB2_ENST00000505820.2_Silent_p.V984V|MIB2_ENST00000360522.4_Silent_p.V892V|MIB2_ENST00000520777.1_Silent_p.V980V|MIB2_ENST00000357210.4_Silent_p.V927V|MIB2_ENST00000378710.3_Silent_p.V891V|MIB2_ENST00000355826.5_Silent_p.V970V|MIB2_ENST00000378708.1_Silent_p.V833V|MIB2_ENST00000504599.1_Silent_p.V883V	NM_001170689.1	NP_001164160.1	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	865					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCAGGTGGTCGTCAGCAAGA	0.697													False	0	False	1:1565062	0	T	1565062	C	T	1565062	3	4	66	1	0	0	0	0	1	0	0	0	9634	884	31	1	3026	1	MIB2	1	1565062	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08		1565062	247685559	1	5521											
RPL22	6146	broad.mit.edu	37	chr1	6257817	6257818	+	Translation_Start_Site	INS	-	-	ACAGGAGCCATGGCGGCAGCGGAG													ccttcaccacaagctttttcINStaagaaaatacacaaatgat							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:6257817_6257818insACAGGAGCCATGGCGGCAGCGGAG	ENST00000484532.1	-	0	0				RPL22_ENST00000234875.4_Splice_Site|RPL22_ENST00000497965.1_Splice_Site			P35268	RL22_HUMAN	ribosomal protein L22						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAAGCTTTTTCTAAGAAAATAC	0.386			T	RUNX1	"AML, CML"								False	0	False	1:6257817	0	ACAGGAGCCATGGCGGCAGCGGAG	6257818	-	ACAGGAGCCATGGCGGCAGCGGAG	6257817	6	5	66	1	0	1	1	0	0	0	0	0	13647	927	32	0		0	RPL22	1	6257817	Translation_Start_Site	INS	-	TCGA-HZ-8005-01A-11D-2201-08	4692755	6257817	242992804	2	5522											
TNFRSF9	3604	broad.mit.edu	37	chr1	8000140	8000140	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtctcacaaatgtcactcTgcaaaagataaacatttcca	5	10	3	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:8000140T>G	ENST00000377507.3	-	2	83		c.e2-2			NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9						induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		AATGTCACTCTGCAAAAGATA	0.348													False	0	False	1:8000140	0	G	8000140	T	G	8000140	5	3	66	1	0	0	0	0	0	0	1	0	16382	1594	55	4		4	TNFRSF9	1	8000140	Splice_Site	SNP	T	TCGA-HZ-8005-01A-11D-2201-08	1742323	8000140	241250481	3	5523											
KIF17	57576	broad.mit.edu	37	chr1	21031222	21031222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggggacgtgcttacagcGcccgtccaccagcgccgaga	14	14	0	1	rs150395335		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:21031222G>A	ENST00000247986.2	-	5	1151	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	KIF17_ENST00000375044.1_Missense_Mutation_p.R181C|KIF17_ENST00000400463.3_Missense_Mutation_p.R281C			Q9P2E2	KIF17_HUMAN	kinesin family member 17	281					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGCTTACAGCGCCCGTCCACC	0.662													False	0	True	1:21031222	0	A	21031222	G	A	21031222	3	1	66	1	0	0	0	0	1	0	0	0	8329	1087	38	1	2292	1	KIF17	1	21031222	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	13031082	21031222	228219399	4	5524											
PTCH2	8643	broad.mit.edu	37	chr1	45294923	45294923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagtaccccggcaaggCccacggaaccctgggactgg	13	16	0	0			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:45294923C>T	ENST00000447098.2	-	10	1288	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	PTCH2_ENST00000372192.3_Missense_Mutation_p.G426D	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	426	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCGGCAAGGCCCACGGAACC	0.677									Basal Cell Nevus syndrome				False	0	True	1:45294923	0	T	45294923	C	T	45294923	3	4	66	1	0	0	0	0	1	0	0	0	12807	739	26	2	2406	2	PTCH2	1	45294923	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	24263701	45294923	203955698	5	5525											
TAL1	6886	broad.mit.edu	37	chr1	47685593	47685597	+	Frame_Shift_Del	DEL	ACCAG	ACCAG	-													cctcccccacctccacccccAccagcccccaccacagggtc							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	ACCAG	ACCAG	-	-	ACCAG	ACCAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:47685593_47685597delACCAG	ENST00000294339.3	-	4	1367_1371	c.791_795delCTGGT	c.(790-795)gctggtfs	p.AG264fs	TAL1_ENST00000371884.2_Frame_Shift_Del_p.AG264fs|TAL1_ENST00000371883.3_Frame_Shift_Del_p.AG266fs|TAL1_ENST00000459729.1_5'UTR	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	264	Poly-Gly.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						ctccacccccaccAGCCCCCACCAC	0.659			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								False	1	False	1:47685593	0	-	47685597	ACCAG	-	47685593	7	5	66	1	0	1	0	1	0	0	0	0	15623	146	6	0	204	0	TAL1	1	47685593	Frame_Shift_Del	DEL	ACCAG	TCGA-HZ-8005-01A-11D-2201-08	2390670	47685593	201565028	6	5526											
OMA1	115209	broad.mit.edu	37	chr1	58999992	58999993	+	In_Frame_Ins	INS	-	-	TTATTG													ttagcatatcatttttaaatINStcttccatccactgaaagat							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:58999992_58999993insTTATTG	ENST00000371226.3	-	4	853_854	c.740_741insCAATAA	c.(739-741)gaa>gaCAATAAa	p.247_247E>DNK	OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_In_Frame_Ins_p.247_247E>DNK|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	247					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					CATTTTTAAATTCTTCCATCCA	0.327													False	0	False	1:58999992	0	TTATTG	58999993	-	TTATTG	58999992	7	5	66	1	0	1	1	0	0	0	0	0	10932	1490	52	0	857	0	OMA1	1	58999992	In_Frame_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	11314399	58999992	190250629	7	5527	111	2									
OMA1	115209	broad.mit.edu	37	chr1	58999994	58999995	+	Frame_Shift_Ins	INS	-	-	CTTATTTTTTATGATGTTCTAA													agcatatcatttttaaattcINSttccatccactgaaagatta							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:58999994_58999995insCTTATTTTTTATGATGTTCTAA	ENST00000371226.3	-	4	851_852	c.738_739insTTAGAACATCATAAAAAATAAG	c.(736-741)gaagaafs	p.E247fs	OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_Frame_Shift_Ins_p.E247fs|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	247					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	p.E247*(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTTTTAAATTCTTCCATCCACT	0.322													False	0	True	1:58999994	0	CTTATTTTTTATGATGTTCTAA	58999995	-	CTTATTTTTTATGATGTTCTAA	58999994	7	5	66	1	0	1	1	0	0	0	0	0	10932	922	32	0	859	0	OMA1	1	58999994	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	2	58999994	190250627	8	5528	111	2									
ELTD1	64123	broad.mit.edu	37	chr1	79387314	79387314	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttacaatggaaggaccagagGacatcaaaattgcaaaatgt	9	6	1	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:79387314G>T	ENST00000370742.3	-	9	1304	c.1241C>A	c.(1240-1242)tCc>tAc	p.S414Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	414	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGGACCAGAGGACATCAAAAT	0.383													False	0	False	1:79387314	0	T	79387314	G	T	79387314	3	4	66	1	0	0	0	0	1	0	0	0	5116	1174	41	3	859	3	ELTD1	1	79387314	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	20387320	79387314	169863307	9	5529											
WDR47	22911	broad.mit.edu	37	chr1	109538263	109538265	+	In_Frame_Del	DEL	GAG	GAG	-													atttgttgatccaggattacGaggagtgcttgtatgaatat					rs141474361	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:109538263_109538265delGAG	ENST00000369965.4	-	8	1891_1893	c.1631_1633delCTC	c.(1630-1635)cctcgt>cgt	p.P544del	WDR47_ENST00000361054.3_In_Frame_Del_p.P515del|WDR47_ENST00000357672.3_In_Frame_Del_p.P515del|WDR47_ENST00000400794.3_In_Frame_Del_p.P551del|WDR47_ENST00000369962.3_In_Frame_Del_p.P543del	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN	WD repeat domain 47	543										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CCAGGATTACGAGGAGTGCTTGT	0.374													False	2	False	1:109538263	0	-	109538265	GAG	-	109538263	7	5	66	1	0	1	0	1	0	0	0	0	17384	1058	37	0	1161	0	WDR47	1	109538263	In_Frame_Del	DEL	GAG	TCGA-HZ-8005-01A-11D-2201-08	30150949	109538263	139712358	10	5530											
WDR47	22911	broad.mit.edu	37	chr1	109553956	109553957	+	Frame_Shift_Ins	INS	-	-	CCCAATG													aaactcagatccaaatcatcINSacaaccattaccacataaga							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:109553956_109553957insCCCAATG	ENST00000369965.4	-	5	971_972	c.711_712insCATTGGG	c.(709-714)tgtgatfs	p.D238fs	WDR47_ENST00000361054.3_Frame_Shift_Ins_p.D210fs|WDR47_ENST00000357672.3_Frame_Shift_Ins_p.D210fs|WDR47_ENST00000400794.3_Frame_Shift_Ins_p.D245fs|WDR47_ENST00000369962.3_Frame_Shift_Ins_p.D238fs	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN	WD repeat domain 47	238										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCCAAATCATCACAACCATTAC	0.376													False	0	False	1:109553956	0	CCCAATG	109553957	-	CCCAATG	109553956	7	5	66	1	0	1	1	0	0	0	0	0	17384	826	29	0	2094	0	WDR47	1	109553956	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	15693	109553956	139696665	11	5531											
SPTA1	6708	broad.mit.edu	37	chr1	158618345	158618345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcaaagccctcatgccgtCgctgaagagcctgaacactg	9	13	2	3	rs148714399	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:158618345C>T	ENST00000368147.4	-	26	3848	c.3668G>A	c.(3667-3669)cGa>cAa	p.R1223Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1223Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATGCCGTCGCTGAAGAGC	0.507													False	0	False	1:158618345	0	T	158618345	C	T	158618345	3	4	66	1	0	0	0	0	1	0	0	0	15198	884	31	1	3699	1	SPTA1	1	158618345	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	49064389	158618345	90632276	12	5532											
ASTN1	460	broad.mit.edu	37	chr1	177001821	177001821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgcaggctctcccgtccGtgcccgccgatcagcacaga	11	17	2	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:177001821G>A	ENST00000367654.3	-	3	847	c.636C>T	c.(634-636)caC>caT	p.H212H	ASTN1_ENST00000367657.3_Silent_p.H212H|ASTN1_ENST00000424564.2_Silent_p.H212H|ASTN1_ENST00000361833.2_Silent_p.H212H|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCCCGTCCGTGCCCGCCGA	0.627													False	0	True	1:177001821	0	A	177001821	G	A	177001821	2	1	66	1	0	0	0	0	0	0	0	1	1068	1136	40	1		1	ASTN1	1	177001821	Silent	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	18383476	177001821	72248800	13	5533											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179887348	179887348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtgcaacctgaaaatGccctgaaaaggggcatctgc	11	11	1	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:179887348G>A	ENST00000606911.2	+	10	1917	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T	TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.A577T|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.A455T|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.A592T			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1							integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						ACCTGAAAATGCCCTGAAAAG	0.428													False	0	True	1:179887348	0	A	179887348	G	A	179887348	3	1	66	1	0	0	0	0	1	0	0	0	16455	1319	46	2	1764	2	TOR1AIP1	1	179887348	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	2885527	179887348	69363273	14	5534											
LGR6	59352	broad.mit.edu	37	chr1	202273709	202273709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgacccgcgcaggcatcCggctgctcccatcggggatg	13	17	0	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:202273709C>T	ENST00000367278.3	+	11	1110	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Missense_Mutation_p.R202W|LGR6_ENST00000255432.7_Missense_Mutation_p.R289W	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	341						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CGCAGGCATCCGGCTGCTCCC	0.642													False	0	False	1:202273709	0	T	202273709	C	T	202273709	3	4	66	1	0	0	0	0	1	0	0	0	8810	643	23	1	1210	1	LGR6	1	202273709	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	22386361	202273709	46976912	15	5535											
SYT14	255928	broad.mit.edu	37	chr1	210187063	210187064	+	Frame_Shift_Ins	INS	-	-	GAAACCCCAAACATTAAGTTAGC													ttctctatattaataagaagINSttctgttttgaaaatgttgg							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:210187063_210187064insGAAACCCCAAACATTAAGTTAGC	ENST00000367015.1	+	3	339_340	c.33_34insGAAACCCCAAACATTAAGTTAGC	c.(34-36)ttcfs	p.F12fs	SYT14_ENST00000472886.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000422431.1_Frame_Shift_Ins_p.F95fs|SYT14_ENST00000367019.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000534859.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000537238.1_Frame_Shift_Ins_p.F12fs			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	50						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTAATAAGAAGTTCTGTTTTGA	0.351													False	0	False	1:210187063	0	GAAACCCCAAACATTAAGTTAGC	210187064	-	GAAACCCCAAACATTAAGTTAGC	210187063	7	5	66	1	0	1	1	0	0	0	0	0	15552	1020	36	0	296	0	SYT14	1	210187063	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	7913354	210187063	39063558	16	5536											
ZNF678	339500	broad.mit.edu	37	chr1	227842194	227842195	+	In_Frame_Ins	INS	-	-	ATAAAAATAAAAAGT													aaggtaaggggcagaaagaaINStattgcaatagacttactca							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:227842194_227842195insATAAAAATAAAAAGT	ENST00000343776.4	+	4	588_589	c.243_244insATAAAAATAAAAAGT	c.(244-246)tat>ATAAAAATAAAAAGTtat	p.81_82insIKIKS	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_In_Frame_Ins_p.136_137insIKIKS			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	136					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GGCAGAAAGAATATTGCAATAG	0.386													False	0	True	1:227842194	0	ATAAAAATAAAAAGT	227842195	-	ATAAAAATAAAAAGT	227842194	7	5	66	1	0	1	1	0	0	0	0	0	18168	98	4	0	422	0	ZNF678	1	227842194	In_Frame_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	17655131	227842194	21408427	17	5537											
OR2B11	127623	broad.mit.edu	37	chr1	247615262	247615262	+	Frame_Shift_Del	DEL	A	A	-													ctttaggggagtcccctaagAagctatggttgtcacttttc					rs35305980		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:247615262delA	ENST00000318749.6	-	1	46	c.23delT	c.(22-24)ttcfs	p.F8fs		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCCCTAAGAAGCTATGGTT	0.473													False	2	False	1:247615262	0	-	247615262	A	-	247615262	7	5	66	1	0	1	0	1	0	0	0	0	11056	246	9	0	933	0	OR2B11	1	247615262	Frame_Shift_Del	DEL	A	TCGA-HZ-8005-01A-11D-2201-08	19773068	247615262	1635359	18	5538											
APOB	338	broad.mit.edu	37	chr2	21238344	21238344	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgaccagtgggcgaggatctCacttctggcttctgcttgca	12	12	3	0			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:21238344C>A	ENST00000233242.1	-	22	3533	c.3406G>T	c.(3406-3408)Gag>Tag	p.E1136*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1136					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCGAGGATCTCACTTCTGGCT	0.473													False	0	False	2:21238344	0	A	21238344	C	A	21238344	4	1	66	1	0	0	0	0	0	1	0	0	787	835	29	3	10317	3	APOB	2	21238344	Nonsense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08		21238344	221961029	19	5539											
ABCG5	64240	broad.mit.edu	37	chr2	44047223	44047224	+	In_Frame_Ins	INS	-	-	TAAGAT													ccaaatcgggcaacctcaggINSatgtaagcccagcgtcctag							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:44047223_44047224insTAAGAT	ENST00000405322.1	-	8	1862_1863	c.966_967insATCTTA	c.(964-969)catcct>catATCTTAcct	p.322_323HP>HILP	ABCG5_ENST00000260645.1_In_Frame_Ins_p.493_494HP>HILP|ABCG5_ENST00000543989.1_In_Frame_Ins_p.98_99HP>HILP			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	493					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAACCTCAGGATGTAAGCCCA	0.426													False	0	False	2:44047223	0	TAAGAT	44047224	-	TAAGAT	44047223	7	5	66	1	0	1	1	0	0	0	0	0	71	1174	41	0	487	0	ABCG5	2	44047223	In_Frame_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	22808879	44047223	199152150	20	5540											
RNF103	7844	broad.mit.edu	37	chr2	86832537	86832538	+	In_Frame_Ins	INS	-	-	CTAAGT													acccagcctcttctcctgcaINSatatctacaagagaggaaac							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:86832537_86832538insCTAAGT	ENST00000237455.4	-	4	1454_1455	c.486_487insACTTAG	c.(484-489)tattgc>tatACTTAGtgc	p.162_163YC>YT*C	AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103_ENST00000477307.1_5'UTR	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	162					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CTTCTCCTGCAATATCTACAAG	0.406													False	0	False	2:86832537	0	CTAAGT	86832538	-	CTAAGT	86832537	7	5	66	1	0	1	1	0	0	0	0	0	13502	130	5	0	1574	0	RNF103	2	86832537	In_Frame_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	42785314	86832537	156366836	21	5541											
CCDC138	165055	broad.mit.edu	37	chr2	109408239	109408240	+	In_Frame_Ins	INS	-	-	AGAAGTTTACTATAGCAC													cgaaaataaccaagcagtctINStttaaagaaatagaaaaagg							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:109408239_109408240insAGAAGTTTACTATAGCAC	ENST00000295124.4	+	4	435_436	c.375_376insAGAAGTTTACTATAGCAC	c.(376-378)ttt>AGAAGTTTACTATAGCACttt	p.125_126insRSLL*H	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_In_Frame_Ins_p.125_126insRSLL*H	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	125										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CCAAGCAGTCTTTTAAAGAAAT	0.292													False	0	True	2:109408239	0	AGAAGTTTACTATAGCAC	109408240	-	AGAAGTTTACTATAGCAC	109408239	7	5	66	1	0	1	1	0	0	0	0	0	2792	1596	56	0	389	0	CCDC138	2	109408239	In_Frame_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	22575702	109408239	133791134	22	5542											
PARD3B	117583	broad.mit.edu	37	chr2	206166339	206166340	+	Frame_Shift_Ins	INS	-	-	AGAATGAATAACAGCAC													agaaaaaggaaaagggcaaaINSttgaaagtcaaggagaaaaa							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:206166339_206166340insAGAATGAATAACAGCAC	ENST00000406610.2	+	18	2751_2752	c.2544_2545insAGAATGAATAACAGCAC	c.(2545-2547)ttgfs	p.L849fs	PARD3B_ENST00000351153.1_Frame_Shift_Ins_p.L780fs|PARD3B_ENST00000349953.3_Frame_Shift_Ins_p.L849fs|PARD3B_ENST00000358768.2_Frame_Shift_Ins_p.L787fs|PARD3B_ENST00000462231.1_Frame_Shift_Ins_p.L849fs	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	849	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		aaaagggcaaattgaaagtcaa	0.446													False	0	True	2:206166339	0	AGAATGAATAACAGCAC	206166340	-	AGAATGAATAACAGCAC	206166339	7	5	66	1	0	1	1	0	0	0	0	0	11512	98	4	0	2614	0	PARD3B	2	206166339	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	96758100	206166339	37033034	23	5543											
ERBB4	2066	broad.mit.edu	37	chr2	212578361	212578361	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacacaagaactggaatctAccacaaagttatctgattaa	6	9	2	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:212578361A>T	ENST00000342788.4	-	8	1206	c.896T>A	c.(895-897)gTa>gAa	p.V299E	ERBB4_ENST00000402597.1_Missense_Mutation_p.V299E|ERBB4_ENST00000436443.1_Missense_Mutation_p.V299E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	299	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACTGGAATCTACCACAAAGTT	0.328										TSP Lung(8;0.080)			False	0	False	2:212578361	0	T	212578361	A	T	212578361	3	4	66	1	0	0	0	0	1	0	0	0	5241	391	14	5	3114	5	ERBB4	2	212578361	Missense_Mutation	SNP	A	TCGA-HZ-8005-01A-11D-2201-08	6412022	212578361	30621012	24	5544											
XRCC5	7520	broad.mit.edu	37	chr2	216992376	216992377	+	In_Frame_Ins	INS	-	-	ATTTCA													tgatgatgaaactgaagtttINStaaaagaggatattattcaa							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:216992376_216992377insATTTCA	ENST00000392133.3	+	10	1377_1378	c.916_917insATTTCA	c.(916-918)tta>tATTTCAta	p.306_306L>YFI	XRCC5_ENST00000392132.2_In_Frame_Ins_p.306_306L>YFI			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	306	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AACTGAAGTTTTAAAAGAGGAT	0.317								Non-homologous end-joining					False	0	True	2:216992376	0	ATTTCA	216992377	-	ATTTCA	216992376	7	5	66	1	0	1	1	0	0	0	0	0	17540	1838	64	0	946	0	XRCC5	2	216992376	In_Frame_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	4414015	216992376	26206997	25	5545											
CXCR1	3577	broad.mit.edu	37	chr2	219029412	219029412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggatggtaagcctggcGgaaaaggaagaagggcaggg	19	4	0	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:219029412G>A	ENST00000295683.2	-	2	643	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	175					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.R175C(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TAAGCCTGGCGGAAAAGGAAG	0.522													False	0	False	2:219029412	0	A	219029412	G	A	219029412	3	1	66	1	0	0	0	0	1	0	0	0	4115	1116	39	1	533	1	CXCR1	2	219029412	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	2037036	219029412	24169961	26	5546											
CCDC66	285331	broad.mit.edu	37	chr3	56627080	56627081	+	In_Frame_Ins	INS	-	-	CTTGCCAAAGTAACATAC													gaagagttgaataagcaaatINSagaagatgaccgtcaaagaa							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:56627080_56627081insCTTGCCAAAGTAACATAC	ENST00000394672.3	+	8	1089_1090	c.1019_1020insCTTGCCAAAGTAACATAC	c.(1018-1023)atagaa>atCTTGCCAAAGTAACATACagaa	p.340_341IE>ILPK*HTE	CCDC66_ENST00000326595.7_In_Frame_Ins_p.306_307IE>ILPK*HTE|CCDC66_ENST00000436465.2_In_Frame_Ins_p.340_341IE>ILPK*HTE	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	340										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AATAAGCAAATAGAAGATGACC	0.322													False	0	False	3:56627080	0	CTTGCCAAAGTAACATAC	56627081	-	CTTGCCAAAGTAACATAC	56627080	7	5	66	1	0	1	1	0	0	0	0	0	2859	1406	49	0	1049	0	CCDC66	3	56627080	In_Frame_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08		56627080	141395350	27	5547											
CCDC66	285331	broad.mit.edu	37	chr3	56651313	56651314	+	Frame_Shift_Ins	INS	-	-	TTGCAAATGATTTTTA													aggagccagcttagaaaaagINSaaaacaatcggtgtaatgac							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:56651313_56651314insTTGCAAATGATTTTTA	ENST00000394672.3	+	14	2087_2088	c.2017_2018insTTGCAAATGATTTTTA	c.(2017-2019)gaafs	p.E673fs	CCDC66_ENST00000326595.7_Frame_Shift_Ins_p.E639fs|CCDC66_ENST00000436465.2_Frame_Shift_Ins_p.E673fs	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	673										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CTTAGAAAAAGAAAACAATCGG	0.356													False	0	True	3:56651313	0	TTGCAAATGATTTTTA	56651314	-	TTGCAAATGATTTTTA	56651313	7	5	66	1	0	1	1	0	0	0	0	0	2859	943	33	0	2071	0	CCDC66	3	56651313	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	24233	56651313	141371117	28	5548											
MCM2	4171	broad.mit.edu	37	chr3	127325137	127325137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccaaccacatccatgtcCgcatctcccacctgcctctg	4	20	3	0			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:127325137C>T	ENST00000265056.7	+	5	1094	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	284					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CATCCATGTCCGCATCTCCCA	0.632													False	0	False	3:127325137	0	T	127325137	C	T	127325137	3	4	66	1	0	0	0	0	1	0	0	0	9453	652	23	1	868	1	MCM2	3	127325137	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	70673824	127325137	70697293	29	5549											
ZIC1	7545	broad.mit.edu	37	chr3	147128364	147128364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctgccggccacgcgtcGcctaacgtggtcaacgggca	14	15	1	0			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:147128364G>A	ENST00000282928.4	+	1	1194	c.465G>A	c.(463-465)tcG>tcA	p.S155S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	155					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCACGCGTCGCCTAACGTGG	0.716													False	0	False	3:147128364	0	A	147128364	G	A	147128364	2	1	66	1	0	0	0	0	0	0	0	1	17761	1074	38	1		1	ZIC1	3	147128364	Silent	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	19803227	147128364	50894066	30	5550											
LRPAP1	4043	broad.mit.edu	37	chr4	3516576	3516582	+	Frame_Shift_Del	DEL	AGCTTCT	AGCTTCT	-													ccacgctctctgcgtgcctcAgcttctcgtgcgcaatctcc							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	AGCTTCT	AGCTTCT	-	-	AGCTTCT	AGCTTCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:3516576_3516582delAGCTTCT	ENST00000500728.2	-	7	1054_1060	c.908_914delAGAAGCT	c.(907-915)gagaagctgfs	p.EKL303fs	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	303	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGCGTGCCTCAGCTTCTCGTGCGCAAT	0.614													False	1	False	4:3516576	0	-	3516582	AGCTTCT	-	3516576	7	5	66	1	0	1	0	1	0	0	0	0	9026	188	7	0	167	0	LRPAP1	4	3516576	Frame_Shift_Del	DEL	AGCTTCT	TCGA-HZ-8005-01A-11D-2201-08		3516576	187637700	31	5551											
NPY5R	4889	broad.mit.edu	37	chr4	164272416	164272416	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcatccagtaagttcataCcaggggtccccacttgcttt	7	13	2	0			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:164272416C>A	ENST00000515560.1	+	4	2513	c.991C>A	c.(991-993)Cca>Aca	p.P331T	NPY5R_ENST00000338566.3_Missense_Mutation_p.P331T|NPY5R_ENST00000506953.1_Missense_Mutation_p.P331T			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	331					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TAAGTTCATACCAGGGGTCCC	0.403													False	0	False	4:164272416	0	A	164272416	C	A	164272416	3	1	66	1	0	0	0	0	1	0	0	0	10678	507	18	3	993	3	NPY5R	4	164272416	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	160755840	164272416	26881860	32	5552											
NIPBL	25836	broad.mit.edu	37	chr5	36986323	36986324	+	In_Frame_Ins	INS	-	-	TTTCCATTTTCTTTGTCTCCT													ctgtctttggatgatgttcaINSgaaacttattaaagatagag							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:36986323_36986324insTTTCCATTTTCTTTGTCTCCT	ENST00000282516.8	+	10	3540_3541	c.3041_3042insTTTCCATTTTCTTTGTCTCCT	c.(3040-3045)cagaaa>caTTTCCATTTTCTTTGTCTCCTgaaa	p.1014_1014Q>HFHFLCLL	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_In_Frame_Ins_p.1014_1014Q>HFHFLCLL	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1014					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GATGATGTTCAGAAACTTATTA	0.332													False	0	True	5:36986323	0	TTTCCATTTTCTTTGTCTCCT	36986324	-	TTTCCATTTTCTTTGTCTCCT	36986323	7	5	66	1	0	1	1	0	0	0	0	0	10496	188	7	0	3075	0	NIPBL	5	36986323	In_Frame_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08		36986323	143928937	33	5553											
C5orf51	285636	broad.mit.edu	37	chr5	41917305	41917306	+	Frame_Shift_Ins	INS	-	-	AAACCGTAGTTAT													gagaaaaaatcttgaaaaagINStatgtatctgtgtgtgaagg					rs149416451		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:41917305_41917306insAAACCGTAGTTAT	ENST00000381647.2	+	6	808_809	c.789_790insAAACCGTAGTTAT	c.(790-792)tatfs	p.Y264fs		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	264										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTGAAAAAGTATGTATCTGT	0.386													False	0	True	5:41917305	0	AAACCGTAGTTAT	41917306	-	AAACCGTAGTTAT	41917305	7	5	66	1	0	1	1	0	0	0	0	0	2325	1020	36	0	811	0	C5orf51	5	41917305	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	4930982	41917305	138997955	34	5554											
MRPS30	10884	broad.mit.edu	37	chr5	44815246	44815255	+	Frame_Shift_Del	DEL	TAGTTCACTT	TAGTTCACTT	-													tgatgatgttctacttcagaTagttcactttctactgaata							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	TAGTTCACTT	TAGTTCACTT	-	-	TAGTTCACTT	TAGTTCACTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:44815246_44815255delTAGTTCACTT	ENST00000507110.1	+	5	1300_1309	c.1262_1271delTAGTTCACTT	c.(1261-1272)atagttcactttfs	p.IVHF421fs		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	421					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CTACTTCAGATAGTTCACTTTCTACTGAAT	0.319													False	1	False	5:44815246	0	-	44815255	TAGTTCACTT	-	44815246	7	5	66	1	0	1	0	1	0	0	0	0	9907	1406	49	0	1280	0	MRPS30	5	44815246	Frame_Shift_Del	DEL	TAGTTCACTT	TCGA-HZ-8005-01A-11D-2201-08	2897941	44815246	136100014	35	5555											
ITGA1	3672	broad.mit.edu	37	chr5	52204846	52204847	+	Frame_Shift_Ins	INS	-	-	CTGAAATCTACATTTGTTTT													gagaaggaggagcaaggaaaINSagtgtatgtgtatgctctca							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:52204846_52204847insCTGAAATCTACATTTGTTTT	ENST00000282588.6	+	13	2032_2033	c.1574_1575insCTGAAATCTACATTTGTTTT	c.(1573-1578)aaagtgfs	p.KV525fs		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	525					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGCAAGGAAAAGTGTATGTGT	0.366													False	0	True	5:52204846	0	CTGAAATCTACATTTGTTTT	52204847	-	CTGAAATCTACATTTGTTTT	52204846	7	5	66	1	0	1	1	0	0	0	0	0	7922	14	1	0	1624	0	ITGA1	5	52204846	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	7389600	52204846	128710414	36	5556											
LHFPL2	10184	broad.mit.edu	37	chr5	77805805	77805805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcccgcacagcgtgtcccGctggaagtgctgcacccctg	14	16	0	0			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:77805805G>A	ENST00000380345.2	-	4	907	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	LHFPL2_ENST00000515007.2_Missense_Mutation_p.R78W	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	78						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		AGCGTGTCCCGCTGGAAGTGC	0.687													False	0	True	5:77805805	0	A	77805805	G	A	77805805	3	1	66	1	0	0	0	0	1	0	0	0	8817	1086	38	1	462	1	LHFPL2	5	77805805	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	25600959	77805805	103109455	37	5557											
ZFYVE16	9765	broad.mit.edu	37	chr5	79734166	79734167	+	Frame_Shift_Ins	INS	-	-	TTAATAAAACCTTC													agtcttttgaagaaaatgtaINSaatgactctaaatcgcaaat							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:79734166_79734167insTTAATAAAACCTTC	ENST00000338008.5	+	3	1842_1843	c.1662_1663insTTAATAAAACCTTC	c.(1663-1665)aatfs	p.N555fs	ZFYVE16_ENST00000505560.1_Frame_Shift_Ins_p.N555fs|ZFYVE16_ENST00000510158.1_Frame_Shift_Ins_p.N555fs	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	555					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAGAAAATGTAAATGACTCTAA	0.361													False	0	True	5:79734166	0	TTAATAAAACCTTC	79734167	-	TTAATAAAACCTTC	79734166	7	5	66	1	0	1	1	0	0	0	0	0	17747	349	13	0	1668	0	ZFYVE16	5	79734166	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	1928361	79734166	101181094	38	5558											
MSH3	4437	broad.mit.edu	37	chr5	80169098	80169099	+	In_Frame_Ins	INS	-	-	TAG													agctggaaggattaataaatINSacgaaaaggtcagagtgatt							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:80169098_80169099insTAG	ENST00000265081.6	+	23	3374_3375	c.3294_3295insTAG	c.(3295-3297)acg>TAGacg	p.1098_1099ins*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1098					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GATTAATAAATACGAAAAGGTC	0.371								Mismatch excision repair (MMR)					False	0	True	5:80169098	0	TAG	80169099	-	TAG	80169098	7	5	66	1	0	1	1	0	0	0	0	0	9938	1403	49	0	3384	0	MSH3	5	80169098	In_Frame_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	434932	80169098	100746162	39	5559											
RNF182	221687	broad.mit.edu	37	chr6	13977539	13977539	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccccacaaggtgtcattgtCtgtcctttctgcaggtttga	9	11	3	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:13977539C>G	ENST00000488300.1	+	3	712	c.189C>G	c.(187-189)gtC>gtG	p.V63V	RNF182_ENST00000537388.1_Silent_p.V63V|RNF182_ENST00000537663.1_Silent_p.V63V|RNF182_ENST00000544682.1_Silent_p.V63V	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	63						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GTGTCATTGTCTGTCCTTTCT	0.478													False	0	True	6:13977539	0	G	13977539	C	G	13977539	2	3	66	1	0	0	0	0	0	0	0	1	13545	900	32	5		5	RNF182	6	13977539	Silent	SNP	C	TCGA-HZ-8005-01A-11D-2201-08		13977539	157137528	40	5560											
PPIL1	51645	broad.mit.edu	37	chr6	36824364	36824364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaattatacacttacccGtgaatttcaagtctggatga	7	9	2	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:36824364G>A	ENST00000373699.5	-	3	529	c.278C>T	c.(277-279)aCg>aTg	p.T93M	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	93	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						ACACTTACCCGTGAATTTCAA	0.463													False	0	True	6:36824364	0	A	36824364	G	A	36824364	3	1	66	1	0	0	0	0	1	0	0	0	12400	1145	40	1	230	1	PPIL1	6	36824364	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	22846825	36824364	134290703	41	5561											
TCTE1	202500	broad.mit.edu	37	chr6	44255545	44255545	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggtccaacaatgctgatgtCgttacggtatcctgcatgct	11	10	0	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:44255545C>A	ENST00000371505.4	-	2	140	c.18G>T	c.(16-18)acG>acT	p.T6T	TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	6										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGCTGATGTCGTTACGGTAT	0.562													False	0	False	6:44255545	0	A	44255545	C	A	44255545	2	1	66	1	0	0	0	0	0	0	0	1	15799	871	31	3		3	TCTE1	6	44255545	Silent	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	7431181	44255545	126859522	42	5562											
MEP1A	4224	broad.mit.edu	37	chr6	46793163	46793164	+	Frame_Shift_Ins	INS	-	-	AAAAAAGGGAA													agatccctgagtttaactccINSattatcggacagcgcctgga							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:46793163_46793164insAAAAAAGGGAA	ENST00000230588.4	+	8	720_721	c.711_712insAAAAAAGGGAA	c.(712-714)attfs	p.I238fs		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	238	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGTTTAACTCCATTATCGGACA	0.431													False	0	False	6:46793163	0	AAAAAAGGGAA	46793164	-	AAAAAAGGGAA	46793163	7	5	66	1	0	1	1	0	0	0	0	0	9542	581	21	0	741	0	MEP1A	6	46793163	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	2537618	46793163	124321904	43	5563	112	2									
MEP1A	4224	broad.mit.edu	37	chr6	46793165	46793166	+	Frame_Shift_Ins	INS	-	-	AGTTC													atccctgagtttaactccatINStatcggacagcgcctggatt							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:46793165_46793166insAGTTC	ENST00000230588.4	+	8	722_723	c.713_714insAGTTC	c.(712-717)attatcfs	p.I239fs		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	239	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTTAACTCCATTATCGGACAGC	0.431													False	0	False	6:46793165	0	AGTTC	46793166	-	AGTTC	46793165	7	5	66	1	0	1	1	0	0	0	0	0	9542	1493	52	0	743	0	MEP1A	6	46793165	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	2	46793165	124321902	44	5564	112	2									
CD2AP	23607	broad.mit.edu	37	chr6	47471156	47471157	+	Frame_Shift_Ins	INS	-	-	CTAAAATCTAATTCACAAAATACTGTAAACTATA													aaatgggagaagaggaatgtINStccctgacaatttcgttaag							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:47471156_47471157insCTAAAATCTAATTCACAAAATACTGTAAACTATA	ENST00000359314.5	+	2	601_602	c.145_146insCTAAAATCTAATTCACAAAATACTGTAAACTATA	c.(145-147)ttcfs	p.F49fs		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	49	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAGAGGAATGTTCCCTGACAAT	0.337													False	0	True	6:47471156	0	CTAAAATCTAATTCACAAAATACTGTAAACTATA	47471157	-	CTAAAATCTAATTCACAAAATACTGTAAACTATA	47471156	7	5	66	1	0	1	1	0	0	0	0	0	3017	1725	60	0	151	0	CD2AP	6	47471156	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	677991	47471156	123643911	45	5565											
MDN1	23195	broad.mit.edu	37	chr6	90428180	90428181	+	Frame_Shift_Ins	INS	-	-	AAATGTTTTGTATTAATTTAGTAATTATTAA													ctccatcgtgatagctttacINScaccttctccaagacactta							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:90428180_90428181insAAATGTTTTGTATTAATTTAGTAATTATTAA	ENST00000369393.3	-	43	6602_6603	c.6487_6488insTTAATAATTACTAAATTAATACAAAACATTT	c.(6487-6489)ggtfs	p.G2163fs	MDN1_ENST00000428876.1_Frame_Shift_Ins_p.G2163fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2163					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.G2163D(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GATAGCTTTACCACCTTCTCCA	0.431													False	0	False	6:90428180	0	AAATGTTTTGTATTAATTTAGTAATTATTAA	90428181	-	AAATGTTTTGTATTAATTTAGTAATTATTAA	90428180	7	5	66	1	0	1	1	0	0	0	0	0	9482	507	18	0	10542	0	MDN1	6	90428180	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	42957024	90428180	80686887	46	5566											
RPF2	84154	broad.mit.edu	37	chr6	111346759	111346760	+	Frame_Shift_Ins	INS	-	-	GAATATGTATATATTTAATGGCCTTCTACTAT													aacagaagaccacgagaaaaINSagtcaaaaagaattaaaaaa							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:111346759_111346760insGAATATGTATATATTTAATGGCCTTCTACTAT	ENST00000441448.2	+	10	987_988	c.895_896insGAATATGTATATATTTAATGGCCTTCTACTAT	c.(895-897)aagfs	p.K299fs		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	299						nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						CCACGAGAAAAAGTCAAAAAGA	0.376													False	0	True	6:111346759	0	GAATATGTATATATTTAATGGCCTTCTACTAT	111346760	-	GAATATGTATATATTTAATGGCCTTCTACTAT	111346759	7	5	66	1	0	1	1	0	0	0	0	0	13626	15	1	0	933	0	RPF2	6	111346759	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	20918579	111346759	59768308	47	5567											
DLL1	28514	broad.mit.edu	37	chr6	170597878	170597879	+	Splice_Site	INS	-	-	CAGAAAGT													taatcagagagaaggtgcccINStgggagagaggggagaagac							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:170597878_170597879insCAGAAAGT	ENST00000366756.3	-	3	685		c.e3-1			NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)						cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGAAGGTGCCCTGGGAGAGAGG	0.485													False	0	True	6:170597878	0	CAGAAAGT	170597879	-	CAGAAAGT	170597878	8	5	66	1	0	1	1	0	0	0	1	0	4596	695	24	0	1856	0	DLL1	6	170597878	Splice_Site	INS	-	TCGA-HZ-8005-01A-11D-2201-08	59251119	170597878	517189	48	5568											
AHR	196	broad.mit.edu	37	chr7	17378954	17378954	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggcaagataatactgcacCgatgggaaatgatactatcc	9	8	0	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:17378954C>A	ENST00000242057.4	+	10	2148	c.1505C>A	c.(1504-1506)cCg>cAg	p.P502Q	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	502					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.P502L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AATACTGCACCGATGGGAAAT	0.403													False	0	False	7:17378954	0	A	17378954	C	A	17378954	3	1	66	1	0	0	0	0	1	0	0	0	416	652	23	3	1543	3	AHR	7	17378954	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08		17378954	141759709	49	5569											
CALN1	83698	broad.mit.edu	37	chr7	71252834	71252834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaaggccatagcaaaggCgcatatgaggctcttccgga	13	9	1	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:71252834C>T	ENST00000395275.2	-	7	1100	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	CALN1_ENST00000431984.1_Missense_Mutation_p.A196T|CALN1_ENST00000405452.2_Missense_Mutation_p.A196T|CALN1_ENST00000412588.1_Missense_Mutation_p.A238T|CALN1_ENST00000395276.2_Missense_Mutation_p.A196T|CALN1_ENST00000329008.5_Missense_Mutation_p.A196T	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	196						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATAGCAAAGGCGCATATGAGG	0.567													False	0	False	7:71252834	0	T	71252834	C	T	71252834	3	4	66	1	0	0	0	0	1	0	0	0	2611	768	27	1	77	1	CALN1	7	71252834	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	53873880	71252834	87885829	50	5570											
SLC25A13	10165	broad.mit.edu	37	chr7	95820547	95820548	+	Frame_Shift_Ins	INS	-	-	GTATTATTATTAGGGTGAAGAAGGC													ctaacttgatgggatgtggtINSacctccagcagcctcaaata							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:95820547_95820548insGTATTATTATTAGGGTGAAGAAGGC	ENST00000265631.5	-	7	763_764	c.627_628insGCCTTCTTCACCCTAATAATAATAC	c.(625-630)ggtaccfs	p.T210fs	SLC25A13_ENST00000542654.1_Frame_Shift_Ins_p.T102fs|SLC25A13_ENST00000416240.2_Frame_Shift_Ins_p.T210fs			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	210					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TGGGATGTGGTACCTCCAGCAG	0.337													False	0	False	7:95820547	0	GTATTATTATTAGGGTGAAGAAGGC	95820548	-	GTATTATTATTAGGGTGAAGAAGGC	95820547	7	5	66	1	0	1	1	0	0	0	0	0	14555	1638	57	0	1450	0	SLC25A13	7	95820547	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	24567713	95820547	63318116	51	5571											
GJC3	349149	broad.mit.edu	37	chr7	99527179	99527179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcacgggaagcaagaggCgccccacgggggtggagcgc	20	11	0	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:99527179C>T	ENST00000312891.2	-	1	64	c.65G>A	c.(64-66)cGc>cAc	p.R22H	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	22						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AAGCAAGAGGCGCCCCACGGG	0.622													False	0	False	7:99527179	0	T	99527179	C	T	99527179	3	4	66	1	0	0	0	0	1	0	0	0	6461	768	27	1	782	1	GJC3	7	99527179	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	3706632	99527179	59611484	52	5572											
RNF32	140545	broad.mit.edu	37	chr7	156437351	156437352	+	Frame_Shift_Ins	INS	-	-	TATTTAGAGGAGT													taaaaagagatacaaaggcaINSataatagatactggacttaa							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:156437351_156437352insTATTTAGAGGAGT	ENST00000392741.2	+	2	262_263	c.174_175insTATTTAGAGGAGT	c.(175-177)atafs	p.I59fs	RNF32_ENST00000405335.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000432459.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000343665.4_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.I59fs			Q9H0A6	RNF32_HUMAN	ring finger protein 32	59						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATACAAAGGCAATAATAGATAC	0.361													False	0	False	7:156437351	0	TATTTAGAGGAGT	156437352	-	TATTTAGAGGAGT	156437351	7	5	66	1	0	1	1	0	0	0	0	0	13567	117	5	0	180	0	RNF32	7	156437351	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	56910172	156437351	2701312	53	5573											
DLGAP2	9228	broad.mit.edu	37	chr8	1497636	1497636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccttcggggacctgtcCctcaagacctccaagagcaa	9	16	1	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:1497636C>T	ENST00000421627.2	+	2	911	c.777C>T	c.(775-777)tcC>tcT	p.S259S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	338					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGGACCTGTCCCTCAAGACCT	0.662													False	0	True	8:1497636	0	T	1497636	C	T	1497636	2	4	66	1	0	0	0	0	0	0	0	1	4590	610	22	2		2	DLGAP2	8	1497636	Silent	SNP	C	TCGA-HZ-8005-01A-11D-2201-08		1497636	144866386	54	5574											
RP1	6101	broad.mit.edu	37	chr8	55541791	55541791	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataataacagcagtgaggtAccatattcacattttggtaa	8	6	1	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:55541791A>G	ENST00000220676.1	+	4	5497	c.5349A>G	c.(5347-5349)gtA>gtG	p.V1783V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1783					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCAGTGAGGTACCATATTCAC	0.443													False	0	False	8:55541791	0	G	55541791	A	G	55541791	2	3	66	1	0	0	0	0	0	0	0	1	13611	378	14	4		4	RP1	8	55541791	Silent	SNP	A	TCGA-HZ-8005-01A-11D-2201-08	54044155	55541791	90822231	55	5575											
SDCBP	6386	broad.mit.edu	37	chr8	59488622	59488623	+	Splice_Site	INS	-	-	GTC													cttaaatcaatagataatgtINSaagtattttaaatacctatt							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:59488622_59488623insGTC	ENST00000523483.1	+	6	1976		c.e6+2		SDCBP_ENST00000447267.2_Intron|SDCBP_ENST00000447182.2_Splice_Site|SDCBP_ENST00000422546.2_Splice_Site|SDCBP_ENST00000424270.2_Splice_Site|SDCBP_ENST00000260130.4_Splice_Site|SDCBP_ENST00000413219.2_Splice_Site|SDCBP_ENST00000520168.1_Intron			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)						actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATAGATAATGTAAGTATTTTAA	0.277													False	0	False	8:59488622	0	GTC	59488623	-	GTC	59488622	8	5	66	1	0	1	1	0	0	0	1	0	14036	1652	57	0	418	0	SDCBP	8	59488622	Splice_Site	INS	-	TCGA-HZ-8005-01A-11D-2201-08	3946831	59488622	86875400	56	5576											
NCOA2	10499	broad.mit.edu	37	chr8	71071800	71071803	+	Frame_Shift_Del	DEL	AGTT	AGTT	-													tagtagtctgagaacggatgAgtttgctcttcgtttgtgca							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	AGTT	AGTT	-	-	AGTT	AGTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:71071800_71071803delAGTT	ENST00000452400.2	-	10	1242_1245	c.1061_1064delAACT	c.(1060-1065)aaactcfs	p.KL354fs		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	354					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGAACGGATGAGTTTGCTCTTCGT	0.402			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								False	1	True	8:71071800	0	-	71071803	AGTT	-	71071800	7	5	66	1	0	1	0	1	0	0	0	0	10297	304	11	0	3386	0	NCOA2	8	71071800	Frame_Shift_Del	DEL	AGTT	TCGA-HZ-8005-01A-11D-2201-08	11583178	71071800	75292222	57	5577											
STAU2	27067	broad.mit.edu	37	chr8	74516052	74516052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggcctgttgaatttgcGccaggcggctaatagggttc	13	8	0	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:74516052G>A	ENST00000355780.5	-	9	1060	c.842C>T	c.(841-843)gCg>gTg	p.A281V	STAU2_ENST00000517542.1_Missense_Mutation_p.A275V|STAU2_ENST00000523558.1_Missense_Mutation_p.A141V|STAU2_ENST00000522695.1_Missense_Mutation_p.A281V|STAU2_ENST00000521210.1_Missense_Mutation_p.A209V|STAU2_ENST00000521727.1_Missense_Mutation_p.A293V|STAU2_ENST00000521451.1_Missense_Mutation_p.A93V|STAU2_ENST00000519961.1_Missense_Mutation_p.A313V|STAU2_ENST00000522509.1_Missense_Mutation_p.A281V|STAU2_ENST00000524300.1_Missense_Mutation_p.A313V	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	313					transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTGAATTTGCGCCAGGCGGCT	0.403													False	0	False	8:74516052	0	A	74516052	G	A	74516052	3	1	66	1	0	0	0	0	1	0	0	0	15355	1087	38	1	922	1	STAU2	8	74516052	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	3444252	74516052	71847970	58	5578											
FABP12	646486	broad.mit.edu	37	chr8	82439272	82439272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccaccaccattttcccatCcaccagctttctcgttatgg	4	17	1	0			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:82439272C>T	ENST00000360464.4	-	3	393	c.331G>A	c.(331-333)Gat>Aat	p.D111N	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	111							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						ATTTTCCCATCCACCAGCTTT	0.413													False	0	False	8:82439272	0	T	82439272	C	T	82439272	3	4	66	1	0	0	0	0	1	0	0	0	5392	855	30	2	97	2	FABP12	8	82439272	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	7923220	82439272	63924750	59	5579											
ODF1	4956	broad.mit.edu	37	chr8	103564103	103564103	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctattgctgctgtgacttgCacccatatccgtactgcttg	8	13	0	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:103564103C>A	ENST00000285402.3	+	1	304	c.148C>A	c.(148-150)Cac>Aac	p.H50N		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	50	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CTGTGACTTGCACCCATATCC	0.493													False	0	False	8:103564103	0	A	103564103	C	A	103564103	3	1	66	1	0	0	0	0	1	0	0	0	10894	710	25	3	150	3	ODF1	8	103564103	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	21124831	103564103	42799919	60	5580											
ENY2	56943	broad.mit.edu	37	chr8	110348356	110348356	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtacatgttgatgtccaGgttagcaagatgaacaaaga	10	5	0	4			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:110348356G>A	ENST00000521688.1	+	2	151		c.e2-1		ENY2_ENST00000522407.1_Intron|ENY2_ENST00000520147.1_Splice_Site|ENY2_ENST00000521662.1_Splice_Site	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)						histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			TTGATGTCCAGGTTAGCAAGA	0.363													False	0	False	8:110348356	0	A	110348356	G	A	110348356	5	1	66	1	0	0	0	0	0	0	1	0	5178	1014	35	2	12	2	ENY2	8	110348356	Splice_Site	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	6784253	110348356	36015666	61	5581											
ZFAT	57623	broad.mit.edu	37	chr8	135545161	135545161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttcctgttgtagtgccGcttcagagagccagatatgt	12	9	1	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:135545161G>A	ENST00000520727.1	-	13	3294	c.2995C>T	c.(2995-2997)Cgg>Tgg	p.R999W	ZFAT_ENST00000523399.1_Missense_Mutation_p.R949W|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000377838.3_Missense_Mutation_p.R1011W|ZFAT_ENST00000520356.1_Missense_Mutation_p.R999W|ZFAT_ENST00000429442.2_Missense_Mutation_p.R999W|ZFAT_ENST00000520214.1_Missense_Mutation_p.R999W	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1011					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTGTAGTGCCGCTTCAGAGAG	0.592													False	0	False	8:135545161	0	A	135545161	G	A	135545161	3	1	66	1	0	0	0	0	1	0	0	0	17715	1086	38	1	720	1	ZFAT	8	135545161	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	25196805	135545161	10818861	62	5582											
CDKN2A	1029	broad.mit.edu	37	chr9	21971143	21971144	+	Frame_Shift_Ins	INS	-	-	A													gagagtggcggggtcggcgcINSagttgggctccgcgccgtgg							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:21971143_21971144insA	ENST00000479692.2	-	2	75_76	c.61_62insT	c.(61-63)tgcfs	p.C21fs	CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.C72fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.C72fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.C72fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.C21fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.C72fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.L127fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.C21fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.C21fs|CDKN2A_ENST00000579755.1_Frame_Shift_Ins_p.L86fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.L86fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.C21fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	72					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E61_L94del(1)|p.0(1)|p.C72S(1)|p.C72Y(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.C72G(1)|p.A68fs*3(1)|p.C72fs*71(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGGGTCGGCGCAGTTGGGCTCC	0.713		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	1	False	9:21971143	0	A	21971144	-	A	21971143	7	5	66	1	0	1	1	0	0	0	0	0	3184	710	25	0	263	0	CDKN2A	9	21971143	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08		21971143	119242288	63	5583											
TLR4	7099	broad.mit.edu	37	chr9	120475078	120475078	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccaaccaggtgcatttaaAgaaattaggcttcataagct	7	8	1	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:120475078A>G	ENST00000355622.6	+	3	773	c.672A>G	c.(670-672)aaA>aaG	p.K224K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.K184K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	224					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTGCATTTAAAGAAATTAGGC	0.373													False	0	True	9:120475078	0	G	120475078	A	G	120475078	2	3	66	1	0	0	0	0	0	0	0	1	16035	69	3	4		4	TLR4	9	120475078	Silent	SNP	A	TCGA-HZ-8005-01A-11D-2201-08	98503935	120475078	20738353	64	5584											
UBAC1	10422	broad.mit.edu	37	chr9	138836942	138836944	+	In_Frame_Del	DEL	CCT	CCT	-													ttccgtcagctcatctctggCctcctcatcggtggcgctgg					rs66767056		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:138836942_138836944delCCT	ENST00000371756.3	-	7	1023_1025	c.806_808delAGG	c.(805-810)gaggcc>gcc	p.E269del	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	269				Missing (in Ref. 1; AAD51084).		Golgi apparatus|plasma membrane	protein binding	p.E269delE(1)|p.E269fs*6(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TCATCTCTGGCCTCCTCATCGGT	0.621													False	2	False	9:138836942	0	-	138836944	CCT	-	138836942	7	5	66	1	0	1	0	1	0	0	0	0	16918	739	26	0	425	0	UBAC1	9	138836942	In_Frame_Del	DEL	CCT	TCGA-HZ-8005-01A-11D-2201-08	18361864	138836942	2376489	65	5585											
PCDH15	65217	broad.mit.edu	37	chr10	55566772	55566772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atatattgccgttgatattaCtgtggatactaggatggtga	11	4	0	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:55566772C>A	ENST00000373965.2	-	36	5016	c.4622G>T	c.(4621-4623)aGt>aTt	p.S1541I	PCDH15_ENST00000414778.1_Missense_Mutation_p.S1538I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.S1538N(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGATATTACTGTGGATACT	0.453										HNSCC(58;0.16)			False	0	False	10:55566772	0	A	55566772	C	A	55566772	3	1	66	1	0	0	0	0	1	0	0	0	11579	565	20	3	436	3	PCDH15	10	55566772	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08		55566772	79967975	66	5586											
SEC31B	25956	broad.mit.edu	37	chr10	102249858	102249858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcacagggaagcttgcagGaggggctggggtgtgggaga	22	5	0	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:102249858G>A	ENST00000370345.3	-	21	2969	c.2872C>T	c.(2872-2874)Cct>Tct	p.P958S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	958	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AAGCTTGCAGGAGGGGCTGGG	0.617													False	0	False	10:102249858	0	A	102249858	G	A	102249858	3	1	66	1	0	0	0	0	1	0	0	0	14080	1174	41	2	691	2	SEC31B	10	102249858	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	46683086	102249858	33284889	67	5587											
PSD	5662	broad.mit.edu	37	chr10	104163099	104163099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctgtgctcccggcctggGccagtgctgcctccactgca	11	18	1	0			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:104163099G>A	ENST00000020673.5	-	17	3459	c.2933C>T	c.(2932-2934)gCc>gTc	p.A978V	PSD_ENST00000406432.1_Missense_Mutation_p.A978V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	978					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCCGGCCTGGGCCAGTGCTGC	0.642													False	0	True	10:104163099	0	A	104163099	G	A	104163099	3	1	66	1	0	0	0	0	1	0	0	0	12722	1203	42	2	145	2	PSD	10	104163099	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	1913241	104163099	31371648	68	5588											
DCLRE1A	9937	broad.mit.edu	37	chr10	115609448	115609449	+	Frame_Shift_Ins	INS	-	-	AAGGTAA													aagaaagatacccttctaccINStgactttcaaaaggtttcaa							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:115609448_115609449insAAGGTAA	ENST00000361384.2	-	2	2332_2333	c.1415_1416insTTACCTT	c.(1414-1416)cagfs	p.Q472fs	DCLRE1A_ENST00000369305.1_Frame_Shift_Ins_p.Q472fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	472	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		ACCCTTCTACCTGACTTTCAAA	0.317								Other identified genes with known or suspected DNA repair function					False	0	False	10:115609448	0	AAGGTAA	115609449	-	AAGGTAA	115609448	7	5	66	1	0	1	1	0	0	0	0	0	4319	680	24	0	1738	0	DCLRE1A	10	115609448	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	11446349	115609448	19925299	69	5589											
CNGA4	1262	broad.mit.edu	37	chr11	6265298	6265298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtatccacaagcacagaccAtcatggaggagaaaggacgt	11	9	1	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:6265298A>G	ENST00000379936.2	+	6	1502	c.1387A>G	c.(1387-1389)Atc>Gtc	p.I463V		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	463					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACAGACCATCATGGAGGA	0.552													False	0	False	11:6265298	0	G	6265298	A	G	6265298	3	3	66	1	0	0	0	0	1	0	0	0	3622	217	8	4	1409	4	CNGA4	11	6265298	Missense_Mutation	SNP	A	TCGA-HZ-8005-01A-11D-2201-08		6265298	128741218	70	5590											
DENND5A	23258	broad.mit.edu	37	chr11	9166560	9166560	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgtaggtatgtcctgtgAtctcattcctgaccatcaca	7	11	2	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:9166560A>G	ENST00000328194.3	-	18	3424	c.3104T>C	c.(3103-3105)aTc>aCc	p.I1035T	DENND5A_ENST00000527700.1_Missense_Mutation_p.I378T|DENND5A_ENST00000530044.1_Missense_Mutation_p.I1035T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1035	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGTCCTGTGATCTCATTCCT	0.493													False	0	False	11:9166560	0	G	9166560	A	G	9166560	3	3	66	1	0	0	0	0	1	0	0	0	4466	333	12	4	783	4	DENND5A	11	9166560	Missense_Mutation	SNP	A	TCGA-HZ-8005-01A-11D-2201-08	2901262	9166560	125839956	71	5591											
USP47	55031	broad.mit.edu	37	chr11	11964112	11964113	+	Frame_Shift_Ins	INS	-	-	CGGA													ctgtaggaagcctaaagtctINSgtggaagctattctagaaga							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:11964112_11964113insCGGA	ENST00000339865.5	+	19	3103_3104	c.2340_2341insCGGA	c.(2341-2343)gtgfs	p.V781fs	USP47_ENST00000527733.1_Frame_Shift_Ins_p.V849fs|USP47_ENST00000539466.1_De_novo_Start_InFrame|USP47_ENST00000399455.2_Frame_Shift_Ins_p.V869fs	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	869					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GCCTAAAGTCTGTGGAAGCTAT	0.446													False	0	False	11:11964112	0	CGGA	11964113	-	CGGA	11964112	7	5	66	1	0	1	1	0	0	0	0	0	17162	1567	55	0	2414	0	USP47	11	11964112	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	2797552	11964112	123042404	72	5592											
OR4S1	256148	broad.mit.edu	37	chr11	48328426	48328426	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccttatcatttcctatgttAtcatcttactgaacctaaga	3	10	3	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:48328426A>G	ENST00000319988.1	+	1	652	c.652A>G	c.(652-654)Atc>Gtc	p.I218V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TTCCTATGTTATCATCTTACT	0.468													False	0	False	11:48328426	0	G	48328426	A	G	48328426	3	3	66	1	0	0	0	0	1	0	0	0	11150	449	16	4	654	4	OR4S1	11	48328426	Missense_Mutation	SNP	A	TCGA-HZ-8005-01A-11D-2201-08	36364314	48328426	86678090	73	5593											
OR5I1	10798	broad.mit.edu	37	chr11	55703122	55703122	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaggagagtcccttggtagAtcgtcactgaagtcaggtga	14	7	2	5			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:55703122A>T	ENST00000301532.3	-	1	754	c.755T>A	c.(754-756)aTc>aAc	p.I252N		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCCTTGGTAGATCGTCACTGA	0.428													False	0	False	11:55703122	0	T	55703122	A	T	55703122	3	4	66	1	0	0	0	0	1	0	0	0	11232	333	12	5	192	5	OR5I1	11	55703122	Missense_Mutation	SNP	A	TCGA-HZ-8005-01A-11D-2201-08	7374696	55703122	79303394	74	5594											
SPTBN2	6712	broad.mit.edu	37	chr11	66468054	66468054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggaatccctggaagccGtgggcctgggccaggcgacc	16	14	0	0	rs149829140	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:66468054G>A	ENST00000533211.1	-	17	3847	c.3516C>T	c.(3514-3516)caC>caT	p.H1172H	SPTBN2_ENST00000529997.1_Silent_p.H1172H|SPTBN2_ENST00000309996.2_Silent_p.H1172H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1172					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTGGAAGCCGTGGGCCTGGG	0.647													False	0	False	11:66468054	0	A	66468054	G	A	66468054	2	1	66	1	0	0	0	0	0	0	0	1	15202	1136	40	1		1	SPTBN2	11	66468054	Silent	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	10764932	66468054	68538462	75	5595											
ANKRD49	54851	broad.mit.edu	37	chr11	94230103	94230104	+	In_Frame_Ins	INS	-	-	GTATTCCATCAT													cagattgcttctttgggctgINSctgaaaaaaatcgggtaaaa							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:94230103_94230104insGTATTCCATCAT	ENST00000544253.1	+	2	362_363	c.244_245insGTATTCCATCAT	c.(244-246)gct>gGTATTCCATCATct	p.82_82A>GIPSS	ANKRD49_ENST00000544612.1_In_Frame_Ins_p.82_82A>GIPSS|ANKRD49_ENST00000540349.1_In_Frame_Ins_p.82_82A>GIPSS|ANKRD49_ENST00000302755.4_In_Frame_Ins_p.82_82A>GIPSS			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	82					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTTTGGGCTGCTGAAAAAAAT	0.396													False	0	False	11:94230103	0	GTATTCCATCAT	94230104	-	GTATTCCATCAT	94230103	7	5	66	1	0	1	1	0	0	0	0	0	675	1319	46	0	246	0	ANKRD49	11	94230103	In_Frame_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	27762049	94230103	40776413	76	5596											
PPP2R1B	5519	broad.mit.edu	37	chr11	111624222	111624222	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcaatggtattttctTtgcccaaaatagtagacaat	7	6	2	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:111624222T>C	ENST00000527614.1	-	9	1174	c.1109A>G	c.(1108-1110)aAa>aGa	p.K370R	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.K243R|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.K209R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.K306R|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.K370R|PPP2R1B_ENST00000341980.6_Intron	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	370							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GGTATTTTCTTTGCCCAAAAT	0.338													False	0	True	11:111624222	0	C	111624222	T	C	111624222	3	2	66	1	0	0	0	0	1	0	0	0	12457	1841	64	4	947	4	PPP2R1B	11	111624222	Missense_Mutation	SNP	T	TCGA-HZ-8005-01A-11D-2201-08	17394119	111624222	23382294	77	5597											
DSCAML1	57453	broad.mit.edu	37	chr11	117299205	117299205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggggccggaggggcagCgctgggggcggtgggtggct	26	8	0	0			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:117299205C>T	ENST00000321322.6	-	33	6182	c.6181G>A	c.(6181-6183)Gct>Act	p.A2061T	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1791T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2001					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGAGGGGCAGCGCTGGGGGCG	0.731													False	0	False	11:117299205	0	T	117299205	C	T	117299205	3	4	66	1	0	0	0	0	1	0	0	0	4799	768	27	1	164	1	DSCAML1	11	117299205	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	5674983	117299205	17707311	78	5598											
OR10G9	219870	broad.mit.edu	37	chr11	123894473	123894473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggtcctttgcttttttGttccctgtgttttcatttac	7	9	1	0			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:123894473G>A	ENST00000375024.1	+	1	754	c.754G>A	c.(754-756)Gtt>Att	p.V252I		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGCTTTTTTGTTCCCTGTGT	0.542													False	0	True	11:123894473	0	A	123894473	G	A	123894473	3	1	66	1	0	0	0	0	1	0	0	0	10972	1377	48	2	756	2	OR10G9	11	123894473	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	6595268	123894473	11112043	79	5599											
TAS2R19	259294	broad.mit.edu	37	chr12	11174668	11174669	+	Frame_Shift_Ins	INS	-	-	TGTT													aaggtgtattgcattcctcaINSatttgatcttccaagtcaca							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:11174668_11174669insTGTT	ENST00000390673.2	-	1	550_551	c.502_503insAACA	c.(502-504)ttgfs	p.L168fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	168					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGCATTCCTCAATTTGATCTTC	0.391													False	0	True	12:11174668	0	TGTT	11174669	-	TGTT	11174668	7	5	66	1	0	1	1	0	0	0	0	0	15652	131	5	0	399	0	TAS2R19	12	11174668	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08		11174668	122677227	80	5600											
GPRC5A	0	broad.mit.edu	37	chr12	13061365	13061365	+	Frame_Shift_Del	DEL	G	G	-													caaggtgcaggactccaacaGgcgaaaaatgctgcctactc							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:13061365delG	ENST00000014914.5	+	2	1072	c.182delG	c.(181-183)aggfs	p.R62fs	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	62						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GACTCCAACAGGCGAAAAATG	0.587													False	2	False	12:13061365	0	-	13061365	G	-	13061365	7	5	66	1	0	1	0	1	0	0	0	0	6771	1000	35	0	184	0	GPRC5A	12	13061365	Frame_Shift_Del	DEL	G	TCGA-HZ-8005-01A-11D-2201-08	1886697	13061365	120790530	81	5601											
C12orf60	144608	broad.mit.edu	37	chr12	14976418	14976419	+	Frame_Shift_Del	DEL	TA	TA	-													ccaggttcttccaaaaccacTatgatagacaccttgaaaaa					rs10556010		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:14976418_14976419delTA	ENST00000330828.2	+	2	753_754	c.549_550delTA	c.(547-552)actatgfs	p.M184fs	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	184										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CCAAAACCACTATGATAGACAC	0.401													False	1	False	12:14976418	0	-	14976419	TA	-	14976418	7	5	66	1	0	1	0	1	0	0	0	0	1712	1509	53	0	551	0	C12orf60	12	14976418	Frame_Shift_Del	DEL	TA	TCGA-HZ-8005-01A-11D-2201-08	1915053	14976418	118875477	82	5602											
KRAS	3845	broad.mit.edu	37	chr12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgcactgtactcctcTtgacctgctgtgtcgagaat	8	12	2	2	rs17851045		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:25380275T>G	ENST00000311936.3	-	3	374	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25380275	0	G	25380275	T	G	25380275	3	3	66	1	0	0	0	0	1	0	0	0	8488	1606	56	4	519	4	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-HZ-8005-01A-11D-2201-08	10403857	25380275	108471620	83	5603											
KRT84	3890	broad.mit.edu	37	chr12	52779007	52779007	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctccaactctgtaaccaaaGccagggccaccaaagccata	6	16	1	0			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:52779007G>C	ENST00000257951.3	-	1	429	c.363C>G	c.(361-363)ggC>ggG	p.G121G	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	121	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTAACCAAAGCCAGGGCCAC	0.577													False	0	True	12:52779007	0	C	52779007	G	C	52779007	2	2	66	1	0	0	0	0	0	0	0	1	8548	958	34	5		5	KRT84	12	52779007	Silent	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	27398732	52779007	81072888	84	5604											
NACA	4666	broad.mit.edu	37	chr12	57110765	57110765	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctggaggatggggtagctgGgacctctttgggggaagaag	19	5	2	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:57110765G>C	ENST00000454682.1	-	3	4830	c.4549C>G	c.(4549-4551)Cca>Gca	p.P1517A	NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGTAGCTGGGACCTCTTTG	0.587			T	BCL6	NHL								False	0	True	12:57110765	0	C	57110765	G	C	57110765	3	2	66	1	0	0	0	0	1	0	0	0	10200	1232	43	5	1715	5	NACA	12	57110765	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	4331758	57110765	76741130	85	5605											
LEMD3	23592	broad.mit.edu	37	chr12	65634838	65634839	+	Frame_Shift_Ins	INS	-	-	ATCTGAGG													tcctgtgacaaaatattagtINStataccttctaaagtatggc							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:65634838_65634839insATCTGAGG	ENST00000308330.2	+	9	2302_2303	c.2276_2277insATCTGAGG	c.(2275-2280)gttatafs	p.I760fs		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	760	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AAAATATTAGTTATACCTTCTA	0.351													False	0	False	12:65634838	0	ATCTGAGG	65634839	-	ATCTGAGG	65634838	7	5	66	1	0	1	1	0	0	0	0	0	8772	1725	60	0	2310	0	LEMD3	12	65634838	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	8524073	65634838	68217057	86	5606											
USP30	84749	broad.mit.edu	37	chr12	109510153	109510154	+	Frame_Shift_Ins	INS	-	-	TTTCT													caaattacctgccgcacaagINSaggtagctgttttccattga							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:109510153_109510154insTTTCT	ENST00000392784.2	+	9	1106_1107	c.530_531insTTTCT	c.(529-534)agagggfs	p.RG177fs	USP30_ENST00000257548.5_Frame_Shift_Ins_p.RG208fs			Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	208					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TGCCGCACAAGAGGTAGCTGTT	0.332													False	0	False	12:109510153	0	TTTCT	109510154	-	TTTCT	109510153	7	5	66	1	0	1	1	0	0	0	0	0	17145	942	33	0	645	0	USP30	12	109510153	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	43875315	109510153	24341742	87	5607											
ZMYM2	7750	broad.mit.edu	37	chr13	20567380	20567381	+	Frame_Shift_Ins	INS	-	-	A													agaactcgtcagtggaagatINSgatgatgatgttgtttttat							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:20567380_20567381insA	ENST00000382881.3	+	3	412_413	c.168_169insA	c.(169-171)gatfs	p.D57fs	ZMYM2_ENST00000382871.2_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382869.3_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382874.2_Frame_Shift_Ins_p.D57fs			Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAGTGGAAGATGATGATGATGT	0.396													False	0	True	13:20567380	0	A	20567381	-	A	20567380	7	5	66	1	0	1	1	0	0	0	0	0	17783	1461	51	0	170	0	ZMYM2	13	20567380	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08		20567380	94602498	88	5608	113	2									
ZMYM2	7750	broad.mit.edu	37	chr13	20567381	20567382	+	Frame_Shift_Ins	INS	-	-	AAAAAAGAATTAAA													gaactcgtcagtggaagatgINSatgatgatgttgtttttatc							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:20567381_20567382insAAAAAAGAATTAAA	ENST00000382881.3	+	3	413_414	c.169_170insAAAAAAGAATTAAA	c.(169-171)gatfs	p.D57fs	ZMYM2_ENST00000382871.2_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382869.3_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382874.2_Frame_Shift_Ins_p.D57fs			Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGTGGAAGATGATGATGATGTT	0.391													False	0	True	13:20567381	0	AAAAAAGAATTAAA	20567382	-	AAAAAAGAATTAAA	20567381	7	5	66	1	0	1	1	0	0	0	0	0	17783	1290	45	0	171	0	ZMYM2	13	20567381	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	1	20567381	94602497	89	5609	113	2									
MIPEP	4285	broad.mit.edu	37	chr13	24444305	24444306	+	Frame_Shift_Ins	INS	-	-	CAGTGATAATATAATAGTATCC													tactactcaaatccaagattINSttaacattgaggtccactgc							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr13:24444305_24444306insCAGTGATAATATAATAGTATCC	ENST00000382172.3	-	6	730_731	c.632_633insGGATACTATTATATTATCACTG	c.(631-633)aaafs	p.-211fs		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase						protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AATCCAAGATTTTAACATTGAG	0.332													False	0	True	13:24444305	0	CAGTGATAATATAATAGTATCC	24444306	-	CAGTGATAATATAATAGTATCC	24444305	7	5	66	1	0	1	1	0	0	0	0	0	9659	1838	64	0	1564	0	MIPEP	13	24444305	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	3876924	24444305	90725573	90	5610											
BAZ1A	11177	broad.mit.edu	37	chr14	35240863	35240864	+	Frame_Shift_Ins	INS	-	-	TATTAGTTGT													ttctgtttttatccccaaaaINSgtctacaattaaaacaatta							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:35240863_35240864insTATTAGTTGT	ENST00000358716.4	-	20	3625_3626	c.3058_3059insACAACTAATA	c.(3058-3060)cttfs	p.L1020fs	BAZ1A_ENST00000360310.1_Frame_Shift_Ins_p.L1052fs|BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.L1052fs	NM_182648.1	NP_872589.1	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1052					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TATCCCCAAAAGTCTACAATTA	0.332													False	0	True	14:35240863	0	TATTAGTTGT	35240864	-	TATTAGTTGT	35240863	7	5	66	1	0	1	1	0	0	0	0	0	1333	72	3	0	1543	0	BAZ1A	14	35240863	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08		35240863	72108677	91	5611											
WDHD1	11169	broad.mit.edu	37	chr14	55467351	55467352	+	Frame_Shift_Ins	INS	-	-	TGGAAAATTA													acaaattgcataacctttctINScatgtttcaccctaaaaatt							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:55467351_55467352insTGGAAAATTA	ENST00000360586.3	-	10	876_877	c.811_812insTAATTTTCCA	c.(811-813)gagfs	p.E271fs	WDHD1_ENST00000420358.2_Frame_Shift_Ins_p.E148fs|WDHD1_ENST00000421192.1_Frame_Shift_Ins_p.E148fs	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	271						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATAACCTTTCTCATGTTTCACC	0.327													False	0	False	14:55467351	0	TGGAAAATTA	55467352	-	TGGAAAATTA	55467351	7	5	66	1	0	1	1	0	0	0	0	0	17355	1551	54	0	2645	0	WDHD1	14	55467351	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	20226488	55467351	51882189	92	5612											
DAAM1	23002	broad.mit.edu	37	chr14	59820665	59820665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagcgtgtggcagaagTgaaacctaaagtggaaggta	15	5	0	3			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:59820665T>C	ENST00000395125.1	+	19	2392	c.2369T>C	c.(2368-2370)gTg>gCg	p.V790A	DAAM1_ENST00000351081.1_Missense_Mutation_p.V790A|DAAM1_ENST00000360909.3_Missense_Mutation_p.V780A|DAAM1_ENST00000553966.1_Intron	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	790	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GTGGCAGAAGTGAAACCTAAA	0.363													False	0	False	14:59820665	0	C	59820665	T	C	59820665	3	2	66	1	0	0	0	0	1	0	0	0	4240	1696	59	4	2443	4	DAAM1	14	59820665	Missense_Mutation	SNP	T	TCGA-HZ-8005-01A-11D-2201-08	4353314	59820665	47528875	93	5613											
DAAM1	23002	broad.mit.edu	37	chr14	59834297	59834298	+	Frame_Shift_Ins	INS	-	-	AATGTTTCAT													aaaggaggaagaagaacgtcINSgagctcgcatggaagctcag							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:59834297_59834298insAATGTTTCAT	ENST00000395125.1	+	24	3030_3031	c.3007_3008insAATGTTTCAT	c.(3007-3009)cgafs	p.R1003fs	DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.R993fs|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.R1003fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1003	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGAAGAACGTCGAGCTCGCATG	0.411													False	0	False	14:59834297	0	AATGTTTCAT	59834298	-	AATGTTTCAT	59834297	7	5	66	1	0	1	1	0	0	0	0	0	4240	876	31	0	3101	0	DAAM1	14	59834297	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08	13632	59834297	47515243	94	5614											
EXD2	0	broad.mit.edu	37	chr14	69704529	69704529	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctggggccagggccctgctCaacgcggagagcctgcctac	14	15	2	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:69704529C>T	ENST00000409014.1	+	10	1812	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	EXD2_ENST00000409242.1_Silent_p.L385L|EXD2_ENST00000312994.5_Silent_p.L510L|EXD2_ENST00000409018.3_Silent_p.L510L|EXD2_ENST00000409675.1_Silent_p.L385L|EXD2_ENST00000409949.1_Silent_p.L385L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Silent_p.L385L	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	385					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGGCCCTGCTCAACGCGGAGA	0.612													False	0	False	14:69704529	0	T	69704529	C	T	69704529	2	4	66	1	0	0	0	0	0	0	0	1	5330	813	29	2		2	EXD2	14	69704529	Silent	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	9870232	69704529	37645011	95	5615											
CATSPERB	79820	broad.mit.edu	37	chr14	92139362	92139362	+	Splice_Site	DEL	T	T	-													tataaaaacaagagcttgacTataaaaaaaagaagggaaaa							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:92139362delT	ENST00000256343.3	-	13	1135		c.e13-2			NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta						cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGAGCTTGACTATAAAAAAAA	0.303													False	1	False	14:92139362	0	-	92139362	T	-	92139362	8	5	66	1	0	1	0	1	0	0	1	0	2711	1536	53	0	2433	0	CATSPERB	14	92139362	Splice_Site	DEL	T	TCGA-HZ-8005-01A-11D-2201-08	22434833	92139362	15210178	96	5616											
PRIMA1	145270	broad.mit.edu	37	chr14	94245551	94245551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggagtctgggaggtggcGggggtgggggcggcgggggc	28	5	1	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:94245551G>A	ENST00000393140.1	-	3	302	c.200C>T	c.(199-201)cCg>cTg	p.P67L	PRIMA1_ENST00000393143.1_Missense_Mutation_p.P67L|PRIMA1_ENST00000316227.3_Missense_Mutation_p.P67L	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	67	PRAD.				neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		gggaggtggcgggggtggggg	0.632													False	0	True	14:94245551	0	A	94245551	G	A	94245551	3	1	66	1	0	0	0	0	1	0	0	0	12568	1116	39	1	273	1	PRIMA1	14	94245551	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	2106189	94245551	13103989	97	5617											
HSP90AA1	3320	broad.mit.edu	37	chr14	102552342	102552342	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccttggtcattccaattccAgtatccacaatagtgagagt	8	10	1	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:102552342A>T	ENST00000334701.7	-	4	929	c.648T>A	c.(646-648)acT>acA	p.T216T	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000216281.8_Silent_p.T94T	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	94					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TTCCAATTCCAGTATCCACAA	0.433													False	0	False	14:102552342	0	T	102552342	A	T	102552342	2	4	66	1	0	0	0	0	0	0	0	1	7450	175	7	5		5	HSP90AA1	14	102552342	Silent	SNP	A	TCGA-HZ-8005-01A-11D-2201-08	8306791	102552342	4797198	98	5618											
CCDC33	80125	broad.mit.edu	37	chr15	74536401	74536403	+	In_Frame_Del	DEL	AAG	AAG	-													tcggtcacctgtctccctctAagaaggagaccatcatggtc					rs74360605		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:74536401_74536403delAAG	ENST00000398814.3	+	2	528_530	c.97_99delAAG	c.(97-99)aagdel	p.K34del	CCDC33_ENST00000321288.5_In_Frame_Del_p.K237del	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	237							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCTCCCTCTAAGAAGGAGACCA	0.606													False	2	False	15:74536401	0	-	74536403	AAG	-	74536401	7	5	66	1	0	1	0	1	0	0	0	0	2827	363	13	0	103	0	CCDC33	15	74536401	In_Frame_Del	DEL	AAG	TCGA-HZ-8005-01A-11D-2201-08		74536401	27994991	99	5619											
CDH8	1006	broad.mit.edu	37	chr16	61935231	61935231	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactgcttgagctgttagGgtatactcagccttttcctc	8	12	1	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:61935231G>A	ENST00000577390.1	-	3	1353	c.399C>T	c.(397-399)acC>acT	p.T133T	CDH8_ENST00000584337.1_Silent_p.T133T|CDH8_ENST00000577730.1_Silent_p.T133T|CDH8_ENST00000299345.6_Silent_p.T133T	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	133	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAGCTGTTAGGGTATACTCAG	0.418													False	0	True	16:61935231	0	A	61935231	G	A	61935231	2	1	66	1	0	0	0	0	0	0	0	1	3139	1219	43	2		2	CDH8	16	61935231	Silent	SNP	G	TCGA-HZ-8005-01A-11D-2201-08		61935231	28419522	100	5620											
ZFHX3	463	broad.mit.edu	37	chr16	72923765	72923765	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatggagcgcacatgctGgatgaggttgagcttggcct	14	9	1	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:72923765G>A	ENST00000268489.5	-	4	3985	c.3313C>T	c.(3313-3315)Cag>Tag	p.Q1105*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q191*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1105					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGCACATGCTGGATGAGGTTG	0.592													False	0	False	16:72923765	0	A	72923765	G	A	72923765	4	1	66	1	0	0	0	0	0	1	0	0	17717	1357	47	2	7826	2	ZFHX3	16	72923765	Nonsense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	10988534	72923765	17430988	101	5621											
USP10	9100	broad.mit.edu	37	chr16	84812641	84812641	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtggtgaaaccaactgctGaacgcacagcctacctcctg	10	13	0	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:84812641G>A	ENST00000219473.7	+	14	2463	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	USP10_ENST00000570191.1_Missense_Mutation_p.E788K	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	784					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						ACCAACTGCTGAACGCACAGC	0.572													False	0	False	16:84812641	0	A	84812641	G	A	84812641	3	1	66	1	0	0	0	0	1	0	0	0	17125	1291	45	2	2404	2	USP10	16	84812641	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	11888876	84812641	5542112	102	5622											
TP53	7157	broad.mit.edu	37	chr17	7576852	7576852	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggtcccaagacttagtaCctgaagggtgaaatattctc	10	8	1	4	rs11575997		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:7576852C>T	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(24)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGACTTAGTACCTGAAGGGTG	0.458		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)			False	0	False	17:7576852	0	T	7576852	C	T	7576852	5	4	66	1	0	0	0	0	0	0	1	0	16464	521	18	2	288	2	TP53	17	7576852	Splice_Site	SNP	C	TCGA-HZ-8005-01A-11D-2201-08		7576852	73618358	103	5623											
MYH4	4622	broad.mit.edu	37	chr17	10358056	10358056	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttgatcttgaaatacAgcttcatccagggccagtgc	12	10	2	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:10358056A>G	ENST00000255381.2	-	22	2617	c.2507T>C	c.(2506-2508)cTg>cCg	p.L836P	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	836					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTGAAATACAGCTTCATCCA	0.438													False	0	False	17:10358056	0	G	10358056	A	G	10358056	3	3	66	1	0	0	0	0	1	0	0	0	10104	188	7	4	3388	4	MYH4	17	10358056	Missense_Mutation	SNP	A	TCGA-HZ-8005-01A-11D-2201-08	2781204	10358056	70837154	104	5624											
KCNJ12	3768	broad.mit.edu	37	chr17	21318768	21318768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaacggcaaggtgcacacGcggcgcaggtgccgcaaccg	16	14	0	0	rs139060766		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:21318768G>A	ENST00000583088.1	+	3	1009	c.114G>A	c.(112-114)acG>acA	p.T38T	KCNJ12_ENST00000331718.5_Silent_p.T38T	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		AGGTGCACACGCGGCGCAGGT	0.622										Prostate(3;0.18)			False	0	False	17:21318768	0	A	21318768	G	A	21318768	2	1	66	1	0	0	0	0	0	0	0	1	8096	1074	38	1		1	KCNJ12	17	21318768	Silent	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	10960712	21318768	59876442	105	5625											
WNK4	65266	broad.mit.edu	37	chr17	40940393	40940393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagggaggaatctccggCgcagaccccgatcccggctg	13	17	1	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:40940393C>T	ENST00000246914.5	+	10	2029	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	670					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GAATCTCCGGCGCAGACCCCG	0.577													False	0	False	17:40940393	0	T	40940393	C	T	40940393	3	4	66	1	0	0	0	0	1	0	0	0	17464	768	27	1	2046	1	WNK4	17	40940393	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	19621625	40940393	40254817	106	5626											
ACE	1636	broad.mit.edu	37	chr17	61561229	61561229	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtactttgtgagttttgtcCtgcagttccagttccatgaa	10	8	0	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:61561229C>G	ENST00000290866.4	+	11	1630	c.1606C>G	c.(1606-1608)Ctg>Gtg	p.L536V	ACE_ENST00000428043.1_Missense_Mutation_p.L536V	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	536	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGTTTTGTCCTGCAGTTCCA	0.592													False	0	False	17:61561229	0	G	61561229	C	G	61561229	3	3	66	1	0	0	0	0	1	0	0	0	136	680	24	5	1648	5	ACE	17	61561229	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	20620836	61561229	19633981	107	5627											
ROCK1	6093	broad.mit.edu	37	chr18	18608802	18608802	+	Frame_Shift_Del	DEL	A	A	-													ccaacgaaagctttaggaatAgggaatgtttcttcctctcc							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr18:18608802delA	ENST00000399799.1	-	10	2086	c.1146delT	c.(1144-1146)cctfs	p.P382fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	382	AGC-kinase C-terminal.|Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTTTAGGAATAGGGAATGTTT	0.358													False	1	True	18:18608802	0	-	18608802	A	-	18608802	7	5	66	1	0	1	0	1	0	0	0	0	13596	407	15	0	3014	0	ROCK1	18	18608802	Frame_Shift_Del	DEL	A	TCGA-HZ-8005-01A-11D-2201-08		18608802	59468446	108	5628											
STARD6	147323	broad.mit.edu	37	chr18	51863601	51863602	+	Translation_Start_Site	INS	-	-	CATTAATATATTTTTAGT													tttagctggtgattctggaaINSttatcccttcaacacgatat							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr18:51863601_51863602insCATTAATATATTTTTAGT	ENST00000580990.2	-	0	102_103				STARD6_ENST00000307844.3_In_Frame_Ins_p.54_54I>N*KYINV|STARD6_ENST00000581310.1_In_Frame_Ins_p.54_54I>N*KYINV			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6						lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TGATTCTGGAATTATCCCTTCA	0.312													False	0	False	18:51863601	0	CATTAATATATTTTTAGT	51863602	-	CATTAATATATTTTTAGT	51863601	6	5	66	1	0	1	1	0	0	0	0	0	15343	101	4	0		0	STARD6	18	51863601	Translation_Start_Site	INS	-	TCGA-HZ-8005-01A-11D-2201-08	33254799	51863601	26213647	109	5629											
AZU1	566	broad.mit.edu	37	chr19	829611	829611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctatgacctgaggcggCgggagaggcagtcccgccag	17	12	0	3			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:829611C>T	ENST00000233997.2	+	3	286	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	89	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGAGGCGGCGGGAGAGGCA	0.632													False	0	True	19:829611	0	T	829611	C	T	829611	3	4	66	1	0	0	0	0	1	0	0	0	1247	759	27	1	275	1	AZU1	19	829611	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08		829611	58299372	110	5630											
PTPRS	5802	broad.mit.edu	37	chr19	5219432	5219432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgatgggctgggggtccGggttatccagctggaagggg	19	9	0	0			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:5219432G>A	ENST00000372412.4	-	23	4048	c.3815C>T	c.(3814-3816)cCg>cTg	p.P1272L	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.P840L|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1249L|PTPRS_ENST00000353284.2_Missense_Mutation_p.P840L|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1271L|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1249L|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1267L|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1271L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1271					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTGGGGGTCCGGGTTATCCAG	0.592													False	0	True	19:5219432	0	A	5219432	G	A	5219432	3	1	66	1	0	0	0	0	1	0	0	0	12890	1116	39	1	2098	1	PTPRS	19	5219432	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	4389821	5219432	53909551	111	5631											
RANBP3	8498	broad.mit.edu	37	chr19	5978075	5978075	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	aacggcgcctcccctaccttCgttcgccaggtccgccattt	8	18	0	0			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:5978075C>G	ENST00000340578.6	-	1	76	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	RANBP3_ENST00000034275.8_Missense_Mutation_p.E7Q|RANBP3_ENST00000591092.1_Missense_Mutation_p.E7Q|RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000541471.1_Missense_Mutation_p.E7Q|RANBP3_ENST00000439268.2_Missense_Mutation_p.E7Q	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	7					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CCCCTACCTTCGTTCGCCAGG	0.701													False	0	True	19:5978075	0	G	5978075	C	G	5978075	3	3	66	1	0	0	0	0	1	0	0	0	13108	893	31	5	1752	5	RANBP3	19	5978075	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	758643	5978075	53150908	112	5632											
ACTL9	284382	broad.mit.edu	37	chr19	8808115	8808115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatggtggagaggccgaCgggtgacagccccgggacct	18	12	0	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:8808115C>T	ENST00000324436.3	-	1	1057	c.937G>A	c.(937-939)Gtc>Atc	p.V313I		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	313						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GAGAGGCCGACGGGTGACAGC	0.647													False	0	True	19:8808115	0	T	8808115	C	T	8808115	3	4	66	1	0	0	0	0	1	0	0	0	203	536	19	1	317	1	ACTL9	19	8808115	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	2830040	8808115	50320868	113	5633											
ZNF491	126069	broad.mit.edu	37	chr19	11917498	11917498	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acacaggagaaaaaccctatGaatgtaaactatatgggaaa	8	6	0	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:11917498G>T	ENST00000323169.5	+	3	1061	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AAAACCCTATGAATGTAAACT	0.418													False	0	False	19:11917498	0	T	11917498	G	T	11917498	4	4	66	1	0	0	0	0	0	1	0	0	18025	1291	45	3	732	3	ZNF491	19	11917498	Nonsense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	3109383	11917498	47211485	114	5634											
MAP1LC3A	84557	broad.mit.edu	37	chr20	33147601	33147604	+	Frame_Shift_Del	DEL	GTGA	GTGA	-													tggtgaaccagcacagcatgGtgagtgtgtccacgcccatc							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	GTGA	GTGA	-	-	GTGA	GTGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:33147601_33147604delGTGA	ENST00000360668.3	+	4	1026_1029	c.265_268delGTGA	c.(265-270)gtgagtfs	p.VS91fs	MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Frame_Shift_Del_p.VS91fs|MAP1LC3A_ENST00000374837.3_Frame_Shift_Del_p.VS95fs			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	91					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						GCACAGCATGGTGAGTGTGTCCAC	0.618													False	1	False	20:33147601	0	-	33147604	GTGA	-	33147601	7	5	66	1	0	1	0	1	0	0	0	0	9297	1261	44	0	335	0	MAP1LC3A	20	33147601	Frame_Shift_Del	DEL	GTGA	TCGA-HZ-8005-01A-11D-2201-08		33147601	29877919	115	5635											
NCAM2	4685	broad.mit.edu	37	chr21	22656716	22656717	+	Frame_Shift_Ins	INS	-	-	ATCTTCTCTCC													ctacagtagttttggaaattINStaccgtaagtaatgtattta							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr21:22656716_22656717insATCTTCTCTCC	ENST00000400546.1	+	3	582_583	c.333_334insATCTTCTCTCC	c.(334-336)tacfs	p.Y112fs	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Ins_p.Y137fs|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	112					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TTTTGGAAATTTACCGTAAGTA	0.292													False	0	True	21:22656716	0	ATCTTCTCTCC	22656717	-	ATCTTCTCTCC	22656716	7	5	66	1	0	1	1	0	0	0	0	0	10271	1829	64	0	343	0	NCAM2	21	22656716	Frame_Shift_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08		22656716	25473179	116	5636											
DYRK1A	1859	broad.mit.edu	37	chr21	38868512	38868512	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaaagttctttgagaaGttgccagatggcacttggaa	12	6	1	3			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr21:38868512G>T	ENST00000339659.4	+	8	2634	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N	DYRK1A_ENST00000338785.3_Missense_Mutation_p.K397N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.K397N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.K397N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.K397N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.K169N|DYRK1A_ENST00000398960.2_Missense_Mutation_p.K397N	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A		Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCTTTGAGAAGTTGCCAGATG	0.353													False	0	False	21:38868512	0	T	38868512	G	T	38868512	3	4	66	1	0	0	0	0	1	0	0	0	4884	1020	36	3	1221	3	DYRK1A	21	38868512	Missense_Mutation	SNP	G	TCGA-HZ-8005-01A-11D-2201-08	16211796	38868512	9261383	117	5637											
DEPDC5	9681	broad.mit.edu	37	chr22	32162651	32162652	+	In_Frame_Ins	INS	-	-	ACTGGAAGACCA													tgtggcgactaaagaaaagtINSttggtaagatgtgatttttt							TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:32162651_32162652insACTGGAAGACCA	ENST00000382112.3	+	5	430_431	c.360_361insACTGGAAGACCA	c.(361-363)ttg>ACTGGAAGACCAttg	p.120_121insTGRP	DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000535622.1_In_Frame_Ins_p.120_121insTGRP|DEPDC5_ENST00000400249.2_In_Frame_Ins_p.120_121insTGRP|DEPDC5_ENST00000400242.3_In_Frame_Ins_p.120_121insTGRP|DEPDC5_ENST00000266091.3_In_Frame_Ins_p.120_121insTGRP|DEPDC5_ENST00000400246.1_In_Frame_Ins_p.120_121insTGRP|DEPDC5_ENST00000382111.2_In_Frame_Ins_p.120_121insTGRP|DEPDC5_ENST00000382105.2_In_Frame_Ins_p.120_121insTGRP|DEPDC5_ENST00000400248.1_In_Frame_Ins_p.120_121insTGRP	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	120					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TAAAGAAAAGTTTGGTAAGATG	0.327													False	0	True	22:32162651	0	ACTGGAAGACCA	32162652	-	ACTGGAAGACCA	32162651	7	5	66	1	0	1	1	0	0	0	0	0	4472	1722	60	0	378	0	DEPDC5	22	32162651	In_Frame_Ins	INS	-	TCGA-HZ-8005-01A-11D-2201-08		32162651	19141915	118	5638											
SREBF2	6721	broad.mit.edu	37	chr22	42300961	42300961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgcggcggcgcaccaCgcagagcaccaagcacggtg	14	16	0	1			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:42300961C>T	ENST00000361204.4	+	18	3354	c.3188C>T	c.(3187-3189)aCg>aTg	p.T1063M	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	1063					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CGGCGCACCACGCAGAGCACC	0.697													False	0	False	22:42300961	0	T	42300961	C	T	42300961	3	4	66	1	0	0	0	0	1	0	0	0	15224	536	19	1	3258	1	SREBF2	22	42300961	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	10138310	42300961	9003605	119	5639											
NFAM1	150372	broad.mit.edu	37	chr22	42781196	42781196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatagaccaggttaagttCgccatcatcttcgaatctat	6	10	4	1	rs145224229		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:42781196C>T	ENST00000329021.5	-	6	821	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	262					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						AGGTTAAGTTCGCCATCATCT	0.502													False	0	False	22:42781196	0	T	42781196	C	T	42781196	3	4	66	1	0	0	0	0	1	0	0	0	10426	893	31	1	32	1	NFAM1	22	42781196	Missense_Mutation	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	480235	42781196	8523370	120	5640											
VCX	26609	broad.mit.edu	37	chrX	7812055	7812055	+	Nonstop_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaactaccgagtgtgTagacggccaagtactcccct	11	11	0	2			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:7812055T>A	ENST00000381059.3	+	3	838	c.619T>A	c.(619-621)Tag>Aag	p.*207K	VCX_ENST00000341408.4_Nonstop_Mutation_p.*187K	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	0					chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				ACCGAGTGTGTAGACGGCCAA	0.572													False	0	True	X:7812055	0	A	7812055	T	A	7812055	4	1	66	1	0	0	0	0	0	0	0	0	17226	1651	57	5	625	5	VCX	23	7812055	Nonstop_Mutation	SNP	T	TCGA-HZ-8005-01A-11D-2201-08		7812055	147458505	121	5641											
GPRASP1	9737	broad.mit.edu	37	chrX	101910080	101910080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggttctgggctacagaCgagtccagcatggcagatga	13	10	1	3	rs144058687	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:101910080C>T	ENST00000537097.1	+	6	2052	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.D413D|GPRASP1_ENST00000415986.1_Silent_p.D413D|GPRASP1_ENST00000361600.5_Silent_p.D413D	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	413						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGGCTACAGACGAGTCCAGCA	0.542													False	0	False	X:101910080	0	T	101910080	C	T	101910080	2	4	66	1	0	0	0	0	0	0	0	1	6769	535	19	1		1	GPRASP1	23	101910080	Silent	SNP	C	TCGA-HZ-8005-01A-11D-2201-08	94098025	101910080	53360480	122	5642											
GPR50	9248	broad.mit.edu	37	chrX	150349558	150349569	+	In_Frame_Del	DEL	CACCACTGGCCA	CACCACTGGCCA	-													gccaccagccaccctaaaccCaccactggccacatcaagcc					rs113250614		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08	CACCACTGGCCA	CACCACTGGCCA	-	-	CACCACTGGCCA	CACCACTGGCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:150349558_150349569delCACCACTGGCCA	ENST00000218316.3	+	2	1572_1583	c.1503_1514delCACCACTGGCCA	c.(1501-1515)cccaccactggccac>ccc	p.TTGH502del		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	502	Pro-rich.		Missing (lower fasting circulating triglyceride levels).		cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.T502_H505delTTGH(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTAAACCCACCACTGGCCACATCAAGCCA	0.608													False	1	False	X:150349558	0	-	150349569	CACCACTGGCCA	-	150349558	7	5	66	1	0	1	0	1	0	0	0	0	6743	581	21	0	1509	0	GPR50	23	150349558	In_Frame_Del	DEL	CACCACTGGCCA	TCGA-HZ-8005-01A-11D-2201-08	48439478	150349558	4921002	123	5643											
ATAD3C	219293	broad.mit.edu	37	chr1	1389850	1389850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggagacgtcccgcatcacGgtgcttgaggcgctgcggca	16	12	1	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:1389850G>A	ENST00000378785.2	+	4	1343	c.348G>A	c.(346-348)acG>acA	p.T116T		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	116							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCGCATCACGGTGCTTGAGG	0.667													False	0	False	1:1389850	0	A	1389850	G	A	1389850	2	1	67	1	0	0	0	0	0	0	0	1	1079	1103	39	1		1	ATAD3C	1	1389850	Silent	SNP	G	TCGA-HZ-8315-01A-11D-2396-08		1389850	247860771	1	5644											
PLCH2	9651	broad.mit.edu	37	chr1	2418364	2418364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatggcgggtgtgaccctcGagagctgccaggacatcatc	14	11	1	3			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:2418364G>A	ENST00000449969.1	+	6	915	c.754G>A	c.(754-756)Gag>Aag	p.E252K	PLCH2_ENST00000419816.2_Missense_Mutation_p.E279K|PLCH2_ENST00000378486.3_Missense_Mutation_p.E279K|PLCH2_ENST00000378488.3_Missense_Mutation_p.E279K|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	279					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGTGACCCTCGAGAGCTGCCA	0.627													False	0	False	1:2418364	0	A	2418364	G	A	2418364	3	1	67	1	0	0	0	0	1	0	0	0	12107	1059	37	1	857	1	PLCH2	1	2418364	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	1028514	2418364	246832257	2	5645											
PINK1	65018	broad.mit.edu	37	chr1	20964418	20964418	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttcggctggaggagtatctGatagggcagtccattggtaa	14	6	1	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:20964418G>C	ENST00000321556.4	+	2	565	c.471G>C	c.(469-471)ctG>ctC	p.L157L		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	157	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAGTATCTGATAGGGCAGT	0.547													False	0	False	1:20964418	0	C	20964418	G	C	20964418	2	2	67	1	0	0	0	0	0	0	0	1	12001	1277	45	5		5	PINK1	1	20964418	Silent	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	18546054	20964418	228286203	3	5646											
COL16A1	1307	broad.mit.edu	37	chr1	32137235	32137235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatagggcctggaggacccGgggagcccctcatgccaggc	16	14	1	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:32137235G>A	ENST00000373672.3	-	48	3647	c.3131C>T	c.(3130-3132)cCg>cTg	p.P1044L	COL16A1_ENST00000271069.6_Missense_Mutation_p.P1044L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1044	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGGAGGACCCGGGGAGCCCCT	0.602													False	0	True	1:32137235	0	A	32137235	G	A	32137235	3	1	67	1	0	0	0	0	1	0	0	0	3696	1116	39	1	1779	1	COL16A1	1	32137235	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	11172817	32137235	217113386	4	5647											
ZNF362	149076	broad.mit.edu	37	chr1	33745956	33745956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaagtccgaacgcggccGcaaaaagatcaaggcggaga	12	13	1	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:33745956G>A	ENST00000539719.1	+	5	751	c.581G>A	c.(580-582)cGc>cAc	p.R194H	ZNF362_ENST00000373428.5_Missense_Mutation_p.R194H	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	194				R -> L (in Ref. 1; AAL55863).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAACGCGGCCGCAAAAAGATC	0.647													False	0	False	1:33745956	0	A	33745956	G	A	33745956	3	1	67	1	0	0	0	0	1	0	0	0	17951	1087	38	1	595	1	ZNF362	1	33745956	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	1608721	33745956	215504665	5	5648											
DOCK7	85440	broad.mit.edu	37	chr1	62954668	62954668	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtggatagtttctttgcAtcccgattagcttcatgaat	8	7	2	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:62954668A>C	ENST00000251157.5	-	42	5436	c.5403T>G	c.(5401-5403)gaT>gaG	p.D1801E	DOCK7_ENST00000340370.5_Missense_Mutation_p.D1779E	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1810	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTTTCTTTGCATCCCGATTAG	0.328													False	0	False	1:62954668	0	C	62954668	A	C	62954668	3	2	67	1	0	0	0	0	1	0	0	0	4722	214	8	4	1028	4	DOCK7	1	62954668	Missense_Mutation	SNP	A	TCGA-HZ-8315-01A-11D-2396-08	29208712	62954668	186295953	6	5649											
TCTEX1D1	200132	broad.mit.edu	37	chr1	67242967	67242967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtcaaggacttgatgattCcacggtataaactaattgtg	10	6	1	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:67242967C>T	ENST00000282670.2	+	5	498	c.370C>T	c.(370-372)Cca>Tca	p.P124S		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	124										large_intestine(2)|lung(10)|skin(1)	13						CTTGATGATTCCACGGTATAA	0.383													False	0	False	1:67242967	0	T	67242967	C	T	67242967	3	4	67	1	0	0	0	0	1	0	0	0	15801	855	30	2	384	2	TCTEX1D1	1	67242967	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	4288299	67242967	182007654	7	5650											
AMY2A	279	broad.mit.edu	37	chr1	104160219	104160219	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atttagctccgaagggatttGgaggggttcaggtgggtatg	17	4	1	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:104160219G>C	ENST00000414303.2	+	1	221	c.157G>C	c.(157-159)Gga>Cga	p.G53R		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	53					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GAAGGGATTTGGAGGGGTTCA	0.408													False	0	True	1:104160219	0	C	104160219	G	C	104160219	3	2	67	1	0	0	0	0	1	0	0	0	594	1349	47	5	159	5	AMY2A	1	104160219	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	36917252	104160219	145090402	8	5651											
RPTN	126638	broad.mit.edu	37	chr1	152129066	152129101	+	In_Frame_Del	DEL	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	-													cttgtctctcaggctgactgTggtgggaatctctgtcttgt					rs78544048	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	-	-	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:152129066_152129101delTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	ENST00000316073.3	-	3	538_573	c.474_509delTGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCA	c.(472-510)catggtcagtctgagaaacaagacagagattcccaccac>cac	p.158_170HGQSEKQDRDSHH>H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	158	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.G159_H170delGQSEKQDRDSHH(1)|p.S168>?(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AGGCTGACTGTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCATGGTGGGAAT	0.492													False	1	False	1:152129066	0	-	152129101	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	-	152129066	7	5	67	1	0	1	0	1	0	0	0	0	13743	1696	59	0	1849	0	RPTN	1	152129066	In_Frame_Del	DEL	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TCGA-HZ-8315-01A-11D-2396-08	47968847	152129066	97121555	9	5652											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	67	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-HZ-8315-01A-11D-2396-08	542449	152671515	96579106	10	5653											
APOB	338	broad.mit.edu	37	chr2	21225669	21225669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctccctagtgtatatccCaggtttccccggaaactgga	8	13	0	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:21225669C>T	ENST00000233242.1	-	29	12752	c.12625G>A	c.(12625-12627)Ggg>Agg	p.G4209R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4209					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGTATATCCCAGGTTTCCCC	0.428													False	0	True	2:21225669	0	T	21225669	C	T	21225669	3	4	67	1	0	0	0	0	1	0	0	0	787	594	21	2	1070	2	APOB	2	21225669	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08		21225669	221973704	11	5654											
CYP26B1	56603	broad.mit.edu	37	chr2	72362468	72362468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggggtggctgctccaggcGcgcagtgtgtcctggatcac	16	12	1	0	rs145145054		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:72362468G>A	ENST00000001146.2	-	3	713	c.510C>T	c.(508-510)cgC>cgT	p.R170R	CYP26B1_ENST00000412253.1_5'UTR|CYP26B1_ENST00000546307.1_Silent_p.R95R	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	170					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TGCTCCAGGCGCGCAGTGTGT	0.622													False	0	True	2:72362468	0	A	72362468	G	A	72362468	2	1	67	1	0	0	0	0	0	0	0	1	4181	1074	38	1		1	CYP26B1	2	72362468	Silent	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	51136799	72362468	170836905	12	5655											
THSD7B	80731	broad.mit.edu	37	chr2	138208441	138208441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaagaaaaatgtgtcattCcctgcccatttgattgcaag	7	9	2	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:138208441C>T	ENST00000409968.1	+	15	3164	c.2986C>T	c.(2986-2988)Ccc>Tcc	p.P996S	THSD7B_ENST00000272643.3_Missense_Mutation_p.P996S|THSD7B_ENST00000413152.2_Missense_Mutation_p.P965S|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATGTGTCATTCCCTGCCCATT	0.363													False	0	True	2:138208441	0	T	138208441	C	T	138208441	3	4	67	1	0	0	0	0	1	0	0	0	15962	855	30	2	2947	2	THSD7B	2	138208441	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	65845973	138208441	104990932	13	5656											
ACVR2A	92	broad.mit.edu	37	chr2	148657137	148657138	+	Splice_Site	INS	-	-	T													gagatggaagtcacacagcgINStaagttcacagggaaaatac							TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:148657137_148657138insT	ENST00000241416.7	+	3	1009		c.e3+1		ACVR2A_ENST00000535787.1_Splice_Site|ACVR2A_ENST00000404590.1_Splice_Site|AC009480.3_ENST00000402410.2_RNA	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA						activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GTCACACAGCGTAAGTTCACAG	0.366													False	1	False	2:148657137	0	T	148657138	-	T	148657137	8	5	67	1	0	1	1	0	0	0	1	0	223	1159	40	0	384	0	ACVR2A	2	148657137	Splice_Site	INS	-	TCGA-HZ-8315-01A-11D-2396-08	10448696	148657137	94542236	14	5657											
SCN1A	6323	broad.mit.edu	37	chr2	166904211	166904211	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaaagcccaactgaaggtatCaaagcttgtgtagccataat	8	8	1	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:166904211C>G	ENST00000423058.2	-	8	1113	c.1096G>C	c.(1096-1098)Gat>Cat	p.D366H	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.D366H|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D366H|SCN1A_ENST00000409050.1_Missense_Mutation_p.D366H|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	366			D -> E (in SMEI; dbSNP:rs121917958).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTGAAGGTATCAAAGCTTGTG	0.418													False	0	True	2:166904211	0	G	166904211	C	G	166904211	3	3	67	1	0	0	0	0	1	0	0	0	13995	826	29	5	5009	5	SCN1A	2	166904211	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	18247074	166904211	76295162	15	5658											
HECW2	57520	broad.mit.edu	37	chr2	197183345	197183345	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcctccccagcactgccttCttcttgcggtgggctctcgg	12	16	3	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:197183345C>T	ENST00000260983.3	-	9	2451	c.2269G>A	c.(2269-2271)Gaa>Aaa	p.E757K	HECW2_ENST00000409111.1_Missense_Mutation_p.E401K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCACTGCCTTCTTCTTGCGGT	0.657													False	0	True	2:197183345	0	T	197183345	C	T	197183345	3	4	67	1	0	0	0	0	1	0	0	0	7090	922	32	2	2533	2	HECW2	2	197183345	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	30279134	197183345	46016028	16	5659											
SEC22C	9117	broad.mit.edu	37	chr3	42590112	42590112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcaggggtggctggctcacGaggtttggtccaaccagcag	16	10	2	0	rs145549289	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:42590112G>A	ENST00000273156.7	-	7	958	c.749C>T	c.(748-750)tCg>tTg	p.S250L	SEC22C_ENST00000423701.2_Missense_Mutation_p.S228L|SEC22C_ENST00000536332.1_Missense_Mutation_p.S180L|SEC22C_ENST00000417572.1_Missense_Mutation_p.S250L	NM_004206.3|NM_032970.3	NP_004197.1|NP_116752.1	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	0					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GCTGGCTCACGAGGTTTGGTC	0.547													False	0	False	3:42590112	0	A	42590112	G	A	42590112	3	1	67	1	0	0	0	0	1	0	0	0	14071	1059	37	1	7	1	SEC22C	3	42590112	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08		42590112	155432318	17	5660											
CADPS	8618	broad.mit.edu	37	chr3	62535605	62535605	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagataggggcatccagctGaggtacatttcctcccttgg	12	10	0	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:62535605G>A	ENST00000383710.4	-	11	2288	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	CADPS_ENST00000357948.3_Nonsense_Mutation_p.Q647*|CADPS_ENST00000283269.9_Nonsense_Mutation_p.Q647*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	647					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCATCCAGCTGAGGTACATTT	0.478													False	0	False	3:62535605	0	A	62535605	G	A	62535605	4	1	67	1	0	0	0	0	0	1	0	0	2590	1299	45	2	2275	2	CADPS	3	62535605	Nonsense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	19945493	62535605	135486825	18	5661											
MFI2	4241	broad.mit.edu	37	chr3	196736601	196736601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggcaggagcgcttgccCcgaagctcatccaaggtgaa	14	12	1	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:196736601C>T	ENST00000296350.5	-	11	1526	c.1413G>A	c.(1411-1413)cgG>cgA	p.R471R		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	471	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AGCGCTTGCCCCGAAGCTCAT	0.642													False	0	True	3:196736601	0	T	196736601	C	T	196736601	2	4	67	1	0	0	0	0	0	0	0	1	9589	610	22	2		2	MFI2	3	196736601	Silent	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	134200996	196736601	1285829	19	5662											
DCUN1D4	23142	broad.mit.edu	37	chr4	52779460	52779460	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttttccctccatcagcaatCaaaatacaaagttattaata	2	10	2	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:52779460C>G	ENST00000334635.5	+	10	905	c.725C>G	c.(724-726)tCa>tGa	p.S242*	DCUN1D4_ENST00000451288.2_Nonsense_Mutation_p.S286*|DCUN1D4_ENST00000381437.4_Nonsense_Mutation_p.S182*|DCUN1D4_ENST00000381441.3_Nonsense_Mutation_p.S207*	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	242	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			CATCAGCAATCAAAATACAAA	0.333													False	0	True	4:52779460	0	G	52779460	C	G	52779460	4	3	67	1	0	0	0	0	0	1	0	0	4341	838	29	5	763	5	DCUN1D4	4	52779460	Nonsense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08		52779460	138374816	20	5663											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	67	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-HZ-8315-01A-11D-2396-08		78610444	102304816	21	5664											
FCHSD1	89848	broad.mit.edu	37	chr5	141028827	141028827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgacttcggctcagctcccGgacagactgcagcacctcag	10	17	2	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr5:141028827G>A	ENST00000435817.2	-	6	474	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	FCHSD1_ENST00000519800.1_Missense_Mutation_p.R140W|FCHSD1_ENST00000522126.1_Missense_Mutation_p.R66W|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R140W	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	142									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCTCCCGGACAGACTGC	0.602													False	0	True	5:141028827	0	A	141028827	G	A	141028827	3	1	67	1	0	0	0	0	1	0	0	0	5829	1115	39	1	1708	1	FCHSD1	5	141028827	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	62418383	141028827	39886433	22	5665											
SLC22A7	10864	broad.mit.edu	37	chr6	43269953	43269955	+	In_Frame_Del	DEL	CTC	CTC	-													ttcaggttcggagtgaacttCtcctattacggcctgagtct							TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:43269953_43269955delCTC	ENST00000372585.5	+	8	1172_1174	c.1077_1079delCTC	c.(1075-1080)ttctcc>ttc	p.S360del	SLC22A7_ENST00000372589.3_In_Frame_Del_p.S358del|SLC22A7_ENST00000372574.3_In_Frame_Del_p.S358del	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	360						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GAGTGAACTTCTCCTATTACGGC	0.562													False	1	False	6:43269953	0	-	43269955	CTC	-	43269953	7	5	67	1	0	1	0	1	0	0	0	0	14539	912	32	0	1103	0	SLC22A7	6	43269953	In_Frame_Del	DEL	CTC	TCGA-HZ-8315-01A-11D-2396-08		43269953	127845114	23	5666											
ABCB5	340273	broad.mit.edu	37	chr7	20668330	20668330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttccgctttgctgatggacTggacatcacactcatgatcc	9	12	2	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:20668330T>C	ENST00000404938.2	+	4	780	c.128T>C	c.(127-129)cTg>cCg	p.L43P		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	696	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCTGATGGACTGGACATCACA	0.463													False	0	True	7:20668330	0	C	20668330	T	C	20668330	3	2	67	1	0	0	0	0	1	0	0	0	44	1580	55	4	138	4	ABCB5	7	20668330	Missense_Mutation	SNP	T	TCGA-HZ-8315-01A-11D-2396-08		20668330	138470333	24	5667											
STK31	56164	broad.mit.edu	37	chr7	23826539	23826539	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agccaacatgcctttaaattCagaagtaagtaaaaagcact	6	8	1	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:23826539C>T	ENST00000354639.3	+	20	2878	c.2414C>T	c.(2413-2415)tCa>tTa	p.S805L	STK31_ENST00000428484.1_Missense_Mutation_p.S805L|STK31_ENST00000355870.3_Missense_Mutation_p.S828L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.S828L	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	828	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCTTTAAATTCAGAAGTAAGT	0.353													False	0	False	7:23826539	0	T	23826539	C	T	23826539	3	4	67	1	0	0	0	0	1	0	0	0	15378	838	29	2	2561	2	STK31	7	23826539	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	3158209	23826539	135312124	25	5668											
SOX17	64321	broad.mit.edu	37	chr8	55372342	55372342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcactgccctgccgggaCggcacggaccccagtcagcc	14	17	1	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr8:55372342C>T	ENST00000297316.4	+	2	1236	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	344	Gln/Pro-rich.|Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCTGCCGGGACGGCACGGACC	0.692													False	0	False	8:55372342	0	T	55372342	C	T	55372342	2	4	67	1	0	0	0	0	0	0	0	1	15027	535	19	1		1	SOX17	8	55372342	Silent	SNP	C	TCGA-HZ-8315-01A-11D-2396-08		55372342	90991680	26	5669											
MELK	9833	broad.mit.edu	37	chr9	36651774	36651774	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacctcacggctacctatcTtctgcttctagccaagaagg	7	14	5	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:36651774T>G	ENST00000543751.1	+	11	1002	c.857T>G	c.(856-858)cTt>cGt	p.L286R	MELK_ENST00000298048.2_Missense_Mutation_p.L318R|MELK_ENST00000538311.1_Missense_Mutation_p.L124R|MELK_ENST00000545008.1_Missense_Mutation_p.L247R|MELK_ENST00000536987.1_Missense_Mutation_p.L187R|MELK_ENST00000536329.1_Missense_Mutation_p.L247R|MELK_ENST00000536860.1_Missense_Mutation_p.L270R|MELK_ENST00000541717.1_Missense_Mutation_p.L318R	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	318						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GCTACCTATCTTCTGCTTCTA	0.418													False	0	False	9:36651774	0	G	36651774	T	G	36651774	3	3	67	1	0	0	0	0	1	0	0	0	9537	1609	56	4	995	4	MELK	9	36651774	Missense_Mutation	SNP	T	TCGA-HZ-8315-01A-11D-2396-08		36651774	104561657	27	5670											
ZNF483	158399	broad.mit.edu	37	chr9	114304519	114304519	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agatgagggaaatgagagtgGagaaaaaactcataaatgta	12	2	1	4			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:114304519G>C	ENST00000309235.5	+	6	1462	c.1304G>C	c.(1303-1305)gGa>gCa	p.G435A	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	435					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AATGAGAGTGGAGAAAAAACT	0.398													False	0	False	9:114304519	0	C	114304519	G	C	114304519	3	2	67	1	0	0	0	0	1	0	0	0	18019	1174	41	5	1322	5	ZNF483	9	114304519	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	77652745	114304519	26908912	28	5671											
DDX31	64794	broad.mit.edu	37	chr9	135505739	135505739	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatggcagccaatccgggCggttcttccaatccggtgga	12	14	1	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:135505739C>A	ENST00000372159.3	-	16	2009	c.1858G>T	c.(1858-1860)Gcc>Tcc	p.A620S	DDX31_ENST00000438527.3_Missense_Mutation_p.A491S|DDX31_ENST00000372153.1_Silent_p.P611P	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	620	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CCAATCCGGGCGGTTCTTCCA	0.478													False	0	True	9:135505739	0	A	135505739	C	A	135505739	3	1	67	1	0	0	0	0	1	0	0	0	4381	768	27	3	717	3	DDX31	9	135505739	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	21201220	135505739	5707692	29	5672											
MAN1B1	11253	broad.mit.edu	37	chr9	139994279	139994279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgagtggtttggcctcGgtctcacactgatcgacgcg	13	11	2	2	rs138090529	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:139994279G>A	ENST00000371589.4	+	6	935	c.862G>A	c.(862-864)Ggt>Agt	p.G288S	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	288					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GTTTGGCCTCGGTCTCACACT	0.582													False	0	False	9:139994279	0	A	139994279	G	A	139994279	3	1	67	1	0	0	0	0	1	0	0	0	9279	1116	39	1	884	1	MAN1B1	9	139994279	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	4488540	139994279	1219152	30	5673											
EXD3	54932	broad.mit.edu	37	chr9	140218269	140218269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggccttcagggagcagtCgaccgagaggcagcgcccag	16	13	1	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:140218269C>T	ENST00000340951.4	-	19	2287	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N	EXD3_ENST00000342129.4_Missense_Mutation_p.D349N	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	698					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGGGAGCAGTCGACCGAGAGG	0.672													False	0	False	9:140218269	0	T	140218269	C	T	140218269	3	4	67	1	0	0	0	0	1	0	0	0	5331	884	31	1	554	1	EXD3	9	140218269	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	223990	140218269	995162	31	5674											
CACNA1B	774	broad.mit.edu	37	chr9	140952517	140952517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtgctgaaacactccGtggatgccacctatgaggag	13	11	0	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:140952517G>A	ENST00000277549.5	+	29	4280	c.1711G>A	c.(1711-1713)Gtg>Atg	p.V571M	CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1375M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1375M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1376M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1376M|CACNA1B_ENST00000371372.1_Missense_Mutation_p.V1375M			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1375					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GAAACACTCCGTGGATGCCAC	0.557													False	0	False	9:140952517	0	A	140952517	G	A	140952517	3	1	67	1	0	0	0	0	1	0	0	0	2559	1145	40	1	4233	1	CACNA1B	9	140952517	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	734248	140952517	260914	32	5675											
DCHS1	8642	broad.mit.edu	37	chr11	6661892	6661892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcaaagtccagtggcCgctctaactgcagcagcccc	10	16	2	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr11:6661892C>T	ENST00000299441.3	-	2	1364	c.953G>A	c.(952-954)cGg>cAg	p.R318Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	318	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCAGTGGCCGCTCTAACTG	0.612													False	0	False	11:6661892	0	T	6661892	C	T	6661892	3	4	67	1	0	0	0	0	1	0	0	0	4312	652	23	1	9023	1	DCHS1	11	6661892	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08		6661892	128344624	33	5676											
PTPN6	5777	broad.mit.edu	37	chr12	7061156	7061156	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgccctgcagggtgggggatCaggtgacccatattcggatc	15	10	1	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7061156C>G	ENST00000456013.1	+	3	384	c.142C>G	c.(142-144)Cag>Gag	p.Q48E	PTPN6_ENST00000447931.2_Missense_Mutation_p.Q9E|PTPN6_ENST00000399448.1_Missense_Mutation_p.Q50E|PTPN6_ENST00000318974.9_Missense_Mutation_p.Q48E	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	48	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGTGGGGGATCAGGTGACCCA	0.597													False	0	False	12:7061156	0	G	7061156	C	G	7061156	3	3	67	1	0	0	0	0	1	0	0	0	12871	827	29	5	170	5	PTPN6	12	7061156	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08		7061156	126790739	34	5677											
PTPN6	5777	broad.mit.edu	37	chr12	7061302	7061302	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacggcaccatcatccacctCaagtacccgctgaactgctc	7	17	2	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7061302C>T	ENST00000456013.1	+	3	530	c.288C>T	c.(286-288)ctC>ctT	p.L96L	PTPN6_ENST00000447931.2_Silent_p.L57L|PTPN6_ENST00000399448.1_Silent_p.L98L|PTPN6_ENST00000318974.9_Silent_p.L96L	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	96	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TCATCCACCTCAAGTACCCGC	0.612													False	0	False	12:7061302	0	T	7061302	C	T	7061302	2	4	67	1	0	0	0	0	0	0	0	1	12871	813	29	2		2	PTPN6	12	7061302	Silent	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	146	7061302	126790593	35	5678											
C1S	716	broad.mit.edu	37	chr12	7173836	7173836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagcaatgccctgccctAaggaagacactcccaattct	6	14	2	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7173836A>G	ENST00000406697.1	+	11	1514	c.886A>G	c.(886-888)Aag>Gag	p.K296E	C1S_ENST00000360817.5_Missense_Mutation_p.K296E|C1S_ENST00000402681.3_Missense_Mutation_p.K129E|C1S_ENST00000328916.3_Missense_Mutation_p.K296E			P09871	C1S_HUMAN	complement component 1, s subcomponent	296	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GCCCTGCCCTAAGGAAGACAC	0.418													False	0	False	12:7173836	0	G	7173836	A	G	7173836	3	3	67	1	0	0	0	0	1	0	0	0	1989	363	13	4	912	4	C1S	12	7173836	Missense_Mutation	SNP	A	TCGA-HZ-8315-01A-11D-2396-08	112534	7173836	126678059	36	5679											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	67	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	18224448	25398284	108453611	37	5680											
TM7SF3	51768	broad.mit.edu	37	chr12	27149763	27149763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgggatcaatatctaaatCgaactccaaattacagcctc	6	10	2	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:27149763C>T	ENST00000343028.4	-	4	655	c.430G>A	c.(430-432)Gat>Aat	p.D144N	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	144						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATATCTAAATCGAACTCCAAA	0.383													False	0	False	12:27149763	0	T	27149763	C	T	27149763	3	4	67	1	0	0	0	0	1	0	0	0	16057	884	31	1	1318	1	TM7SF3	12	27149763	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	1751479	27149763	106702132	38	5681											
CSAD	51380	broad.mit.edu	37	chr12	53552313	53552313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacaggtcctggcctagCcgctccagctcgttgaggag	13	14	1	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:53552313C>T	ENST00000267085.4	-	17	1778	c.1545G>A	c.(1543-1545)cgG>cgA	p.R515R	CSAD_ENST00000379846.1_Silent_p.R341R|CSAD_ENST00000379843.3_Silent_p.R341R|CSAD_ENST00000444623.1_Silent_p.R488R|CSAD_ENST00000453446.2_Silent_p.R488R	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	488					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCTGGCCTAGCCGCTCCAGCT	0.622													False	0	False	12:53552313	0	T	53552313	C	T	53552313	2	4	67	1	0	0	0	0	0	0	0	1	3948	726	26	2		2	CSAD	12	53552313	Silent	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	26402550	53552313	80299582	39	5682											
NCKAP1L	3071	broad.mit.edu	37	chr12	54929924	54929924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcaccagatacttcatctCctgaggaggaatataaggtg	9	9	3	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:54929924C>T	ENST00000293373.6	+	28	3047	c.2968C>T	c.(2968-2970)Cct>Tct	p.P990S	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.P940S	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	990					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TACTTCATCTCCTGAGGAGGA	0.443													False	0	False	12:54929924	0	T	54929924	C	T	54929924	3	4	67	1	0	0	0	0	1	0	0	0	10290	855	30	2	3078	2	NCKAP1L	12	54929924	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	1377611	54929924	78921971	40	5683											
SLC26A10	65012	broad.mit.edu	37	chr12	58019519	58019519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggaggcactgggctgCggcaagtgaggcaggggtaa	19	8	0	1	rs145592443		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:58019519C>T	ENST00000320442.4	+	14	1994	c.1683C>T	c.(1681-1683)tgC>tgT	p.C561C	SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	561						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CACTGGGCTGCGGCAAGTGAG	0.582													False	0	False	12:58019519	0	T	58019519	C	T	58019519	2	4	67	1	0	0	0	0	0	0	0	1	14595	776	27	1		1	SLC26A10	12	58019519	Silent	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	3089595	58019519	75832376	41	5684											
LIN7A	8825	broad.mit.edu	37	chr12	81242056	81242056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttgccctcgcacggaattCgggacagccattaacagtta	10	11	0	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:81242056C>T	ENST00000552864.1	-	3	449	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	83					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GCACGGAATTCGGGACAGCCA	0.358													False	0	True	12:81242056	0	T	81242056	C	T	81242056	3	4	67	1	0	0	0	0	1	0	0	0	8863	893	31	1	466	1	LIN7A	12	81242056	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	23222537	81242056	52609839	42	5685											
MYBPC1	4604	broad.mit.edu	37	chr12	102056180	102056180	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagctccaggtggatgAggctgaattttgatctctgc	11	8	1	3			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:102056180A>G	ENST00000549145.1	+	20	2141	c.2041A>G	c.(2041-2043)Agg>Ggg	p.R681G	MYBPC1_ENST00000452455.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R668G|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R655G|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R649G|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R668G|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R642G|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R656G|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R668G|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R569G|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R693G|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R693G|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R654G			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	668	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CAGGTGGATGAGGCTGAATTT	0.403													False	0	False	12:102056180	0	G	102056180	A	G	102056180	3	3	67	1	0	0	0	0	1	0	0	0	10078	295	11	4	2159	4	MYBPC1	12	102056180	Missense_Mutation	SNP	A	TCGA-HZ-8315-01A-11D-2396-08	20814124	102056180	31795715	43	5686											
TRPC4	7223	broad.mit.edu	37	chr13	38225420	38225420	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccctattgttccaaaactTtctggctttcttctcatctt	3	13	4	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr13:38225420T>C	ENST00000379705.3	-	8	2918	c.2061A>G	c.(2059-2061)gaA>gaG	p.E687E	TRPC4_ENST00000355779.2_Silent_p.E687E|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Silent_p.E514E|TRPC4_ENST00000358477.2_Silent_p.E687E|TRPC4_ENST00000447043.1_Silent_p.E687E|TRPC4_ENST00000338947.5_Silent_p.E514E|TRPC4_ENST00000379681.3_Silent_p.E687E			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	687	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCCAAAACTTTCTGGCTTTC	0.368													False	0	True	13:38225420	0	C	38225420	T	C	38225420	2	2	67	1	0	0	0	0	0	0	0	1	16663	1838	64	4		4	TRPC4	13	38225420	Silent	SNP	T	TCGA-HZ-8315-01A-11D-2396-08		38225420	76944458	44	5687											
RASA3	22821	broad.mit.edu	37	chr13	114795342	114795342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatgacctcgctcagccGcagctccaggtgcactttgc	11	14	1	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr13:114795342G>A	ENST00000334062.7	-	5	515	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	RASA3_ENST00000542651.1_Missense_Mutation_p.A100V|RASA3_ENST00000389544.4_Missense_Mutation_p.R100W	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	132	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCGCTCAGCCGCAGCTCCAGG	0.642													False	0	False	13:114795342	0	A	114795342	G	A	114795342	3	1	67	1	0	0	0	0	1	0	0	0	13141	1086	38	1	2190	1	RASA3	13	114795342	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	76569922	114795342	374536	45	5688											
PTGR2	145482	broad.mit.edu	37	chr14	74345810	74345810	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccccctagattggccatttCttaggttgttccagagtggt	10	11	1	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:74345810C>G	ENST00000555661.1	+	6	676	c.531C>G	c.(529-531)ttC>ttG	p.F177L	PTGR2_ENST00000553813.1_Missense_Mutation_p.F43L|PTGR2_ENST00000267568.4_Missense_Mutation_p.F177L|RP5-1021I20.4_ENST00000556551.2_Intron|PTGR2_ENST00000555228.1_Missense_Mutation_p.F177L			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	177					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						TTGGCCATTTCTTAGGTTGTT	0.353													False	0	True	14:74345810	0	G	74345810	C	G	74345810	3	3	67	1	0	0	0	0	1	0	0	0	12831	912	32	5	549	5	PTGR2	14	74345810	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08		74345810	33003730	46	5689											
MVP	9961	broad.mit.edu	37	chr16	29852959	29852959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctacatgctgacccaggacGaagtcctgtgggagaaagag	13	10	0	3			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:29852959G>A	ENST00000357402.5	+	9	1372	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	MVP_ENST00000395353.1_Missense_Mutation_p.E412K|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	412					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GACCCAGGACGAAGTCCTGTG	0.617													False	0	False	16:29852959	0	A	29852959	G	A	29852959	3	1	67	1	0	0	0	0	1	0	0	0	10063	1059	37	1	1264	1	MVP	16	29852959	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08		29852959	60501794	47	5690											
NOD2	64127	broad.mit.edu	37	chr16	50745886	50745886	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcccgggagcactggggCctgctggctgagtgccagac	16	12	0	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:50745886C>A	ENST00000300589.2	+	4	2169	c.2064C>A	c.(2062-2064)ggC>ggA	p.G688G		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	688					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCACTGGGGCCTGCTGGCTG	0.662													False	0	True	16:50745886	0	A	50745886	C	A	50745886	2	1	67	1	0	0	0	0	0	0	0	1	10585	726	26	3		3	NOD2	16	50745886	Silent	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	20892927	50745886	39608867	48	5691											
TMEM208	29100	broad.mit.edu	37	chr16	67262758	67262758	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggtgctcagctgcttctctCtctatgtctggtccttctgg	10	12	5	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:67262758C>G	ENST00000563953.1	+	5	574	c.148C>G	c.(148-150)Ctc>Gtc	p.L50V	TMEM208_ENST00000304800.9_Missense_Mutation_p.L120V|TMEM208_ENST00000563426.1_Intron|TMEM208_ENST00000565201.1_Missense_Mutation_p.L120V			Q9BTX3	TM208_HUMAN	transmembrane protein 208	120						integral to membrane				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CTGCTTCTCTCTCTATGTCTG	0.522													False	0	True	16:67262758	0	G	67262758	C	G	67262758	3	3	67	1	0	0	0	0	1	0	0	0	16215	913	32	5	376	5	TMEM208	16	67262758	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	16516872	67262758	23091995	49	5692											
CLEC18A	348174	broad.mit.edu	37	chr16	69988323	69988323	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcctggcgtccggcctgtgGcgcaccctgcaagtgggctg	16	14	0	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:69988323G>T	ENST00000288040.6	+	3	490	c.303G>T	c.(301-303)tgG>tgT	p.W101C	CLEC18A_ENST00000393701.2_Missense_Mutation_p.W101C|CLEC18A_ENST00000568461.1_Missense_Mutation_p.W101C|CLEC18A_ENST00000449317.2_Missense_Mutation_p.W101C	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	101	SCP.					extracellular region	sugar binding			NS(1)|endometrium(2)|lung(1)|skin(1)	5						CCGGCCTGTGGCGCACCCTGC	0.657													False	0	False	16:69988323	0	T	69988323	G	T	69988323	3	4	67	1	0	0	0	0	1	0	0	0	3525	1212	42	3	313	3	CLEC18A	16	69988323	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	2725565	69988323	20366430	50	5693											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	14	13	3	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			False	0	False	17:7578394	0	C	7578394	T	C	7578394	3	2	67	1	0	0	0	0	1	0	0	0	16464	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HZ-8315-01A-11D-2396-08		7578394	73616816	51	5694											
SPOP	8405	broad.mit.edu	37	chr17	47677787	47677787	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcccagaaaagggcactGtgctgaagccagagagcggt	16	9	0	3			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:47677787G>A	ENST00000393331.3	-	12	1548	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	SPOP_ENST00000503676.1_Nonsense_Mutation_p.Q360*|SPOP_ENST00000504102.1_Nonsense_Mutation_p.Q360*|SPOP_ENST00000347630.2_Nonsense_Mutation_p.Q360*|SPOP_ENST00000393328.2_Nonsense_Mutation_p.Q360*	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	360					mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AAAGGGCACTGTGCTGAAGCC	0.527										Prostate(2;0.17)			False	0	False	17:47677787	0	A	47677787	G	A	47677787	4	1	67	1	0	0	0	0	0	1	0	0	15166	1386	48	2	50	2	SPOP	17	47677787	Nonsense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	40099393	47677787	33517423	52	5695											
APOH	350	broad.mit.edu	37	chr17	64225477	64225477	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagagaaaactcgagaacaaGatgagcactggagaaatcat	10	7	1	5			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:64225477G>A	ENST00000205948.6	-	1	58	c.21C>T	c.(19-21)atC>atT	p.I7I		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	7					blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCGAGAACAAGATGAGCACTG	0.388													False	0	False	17:64225477	0	A	64225477	G	A	64225477	2	1	67	1	0	0	0	0	0	0	0	1	806	932	33	2		2	APOH	17	64225477	Silent	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	16547690	64225477	16969733	53	5696											
SMAD4	4089	broad.mit.edu	37	chr18	48591977	48591978	+	Splice_Site	DEL	GT	GT	-													gaagccattgagagagcaagGtattgattgtatagtcagat							TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr18:48591977_48591978delGT	ENST00000588745.1	+	5	851		c.e5+1		SMAD4_ENST00000342988.3_Splice_Site|SMAD4_ENST00000398417.2_Splice_Site			Q13485	SMAD4_HUMAN	SMAD family member 4						BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGAGAGCAAGGTATTGATTGTA	0.371													False	1	True	18:48591977	0	-	48591978	GT	-	48591977	8	5	67	1	0	1	0	1	0	0	1	0	14840	1275	44	0	1170	0	SMAD4	18	48591977	Splice_Site	DEL	GT	TCGA-HZ-8315-01A-11D-2396-08		48591977	29485271	54	5697											
MUC16	94025	broad.mit.edu	37	chr19	9026241	9026241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacttcctggagccagtgcGacgcatgtcctcctcgtact	10	14	0	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:9026241G>A	ENST00000397910.4	-	14	36948	c.36745C>T	c.(36745-36747)Cgc>Tgc	p.R12249C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12251	SEA 2.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCCAGTGCGACGCATGTCC	0.552													False	0	False	19:9026241	0	A	9026241	G	A	9026241	3	1	67	1	0	0	0	0	1	0	0	0	10040	1058	37	1	7062	1	MUC16	19	9026241	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08		9026241	50102742	55	5698											
MUC16	94025	broad.mit.edu	37	chr19	9047967	9047967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacagttagatttgaaaAcgcactggtctctgacccag	10	10	1	3			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:9047967A>G	ENST00000397910.4	-	5	33867	c.33664T>C	c.(33664-33666)Ttt>Ctt	p.F11222L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11224	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGATTTGAAAACGCACTGGTC	0.478													False	0	True	19:9047967	0	G	9047967	A	G	9047967	3	3	67	1	0	0	0	0	1	0	0	0	10040	43	2	4	10179	4	MUC16	19	9047967	Missense_Mutation	SNP	A	TCGA-HZ-8315-01A-11D-2396-08	21726	9047967	50081016	56	5699											
DNMT1	1786	broad.mit.edu	37	chr19	10257056	10257056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcctcagggggcaggtaCacaccatcaccaactcggta	11	13	2	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:10257056C>T	ENST00000340748.4	-	27	3052	c.2817G>A	c.(2815-2817)gtG>gtA	p.V939V	DNMT1_ENST00000540357.1_Silent_p.V939V|DNMT1_ENST00000359526.4_Silent_p.V955V			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	939					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGGGCAGGTACACACCATCAC	0.632													False	0	True	19:10257056	0	T	10257056	C	T	10257056	2	4	67	1	0	0	0	0	0	0	0	1	4705	465	17	2		2	DNMT1	19	10257056	Silent	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	1209089	10257056	48871927	57	5700											
MAST3	23031	broad.mit.edu	37	chr19	18255424	18255424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtccagagcctcctccagCggtggcagtggtggcggcag	16	12	0	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:18255424C>T	ENST00000262811.6	+	22	2646	c.2646C>T	c.(2644-2646)agC>agT	p.S882S	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3		Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCTCCTCCAGCGGTGGCAGTG	0.697													False	0	False	19:18255424	0	T	18255424	C	T	18255424	2	4	67	1	0	0	0	0	0	0	0	1	9393	767	27	1		1	MAST3	19	18255424	Silent	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	7998368	18255424	40873559	58	5701											
LSM4	25804	broad.mit.edu	37	chr19	18420597	18420597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccatgtcgatgatctcGtcggggatgcgcaggtactt	13	9	1	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:18420597G>A	ENST00000593829.1	-	4	472	c.219C>T	c.(217-219)gaC>gaT	p.D73D	LSM4_ENST00000252816.6_Silent_p.D59D	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	73					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(3)	6						CGATGATCTCGTCGGGGATGC	0.652													False	0	False	19:18420597	0	A	18420597	G	A	18420597	2	1	67	1	0	0	0	0	0	0	0	1	9120	1136	40	1		1	LSM4	19	18420597	Silent	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	165173	18420597	40708386	59	5702											
ZNF43	7594	broad.mit.edu	37	chr19	21990677	21990677	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattttcttatgttcaataAggtttgaggatcggttaaaa	9	3	2	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:21990677A>G	ENST00000594012.1	-	7	2658	c.2144T>C	c.(2143-2145)cTt>cCt	p.L715P	ZNF43_ENST00000598381.1_Missense_Mutation_p.L715P|ZNF43_ENST00000354959.4_Missense_Mutation_p.L721P|ZNF43_ENST00000595461.1_Missense_Mutation_p.L715P	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATGTTCAATAAGGTTTGAGGA	0.358													False	0	False	19:21990677	0	G	21990677	A	G	21990677	3	3	67	1	0	0	0	0	1	0	0	0	17986	72	3	4	271	4	ZNF43	19	21990677	Missense_Mutation	SNP	A	TCGA-HZ-8315-01A-11D-2396-08	3570080	21990677	37138306	60	5703											
ZNF98	148198	broad.mit.edu	37	chr19	22574559	22574559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaagctttgccacattctTcacatttgtagggcttctct	6	10	3	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:22574559T>C	ENST00000357774.5	-	4	1599	c.1478A>G	c.(1477-1479)gAa>gGa	p.E493G		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GCCACATTCTTCACATTTGTA	0.403													False	0	False	19:22574559	0	C	22574559	T	C	22574559	3	2	67	1	0	0	0	0	1	0	0	0	18285	1783	62	4	244	4	ZNF98	19	22574559	Missense_Mutation	SNP	T	TCGA-HZ-8315-01A-11D-2396-08	583882	22574559	36554424	61	5704											
CHST8	64377	broad.mit.edu	37	chr19	34180278	34180278	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcaggaccctacggagctCgccccccagcaggtgccagg	13	17	0	0	rs150945646		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:34180278C>T	ENST00000262622.4	+	2	869	c.111C>T	c.(109-111)ctC>ctT	p.L37L	CHST8_ENST00000434302.1_Silent_p.L37L|CHST8_ENST00000604556.1_3'UTR|CHST8_ENST00000438847.3_Silent_p.L37L	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CTACGGAGCTCGCCCCCCAGC	0.632													False	0	False	19:34180278	0	T	34180278	C	T	34180278	2	4	67	1	0	0	0	0	0	0	0	1	3433	871	31	1		1	CHST8	19	34180278	Silent	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	11605719	34180278	24948705	62	5705											
TMEM91	641649	broad.mit.edu	37	chr19	41888851	41888861	+	Frame_Shift_Del	DEL	GGGGACTGGGC	GGGGACTGGGC	-													gtctgtgtgtgggacttggaGgggactgggcataaaagaga							TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	GGGGACTGGGC	GGGGACTGGGC	-	-	GGGGACTGGGC	GGGGACTGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:41888851_41888861delGGGGACTGGGC	ENST00000539627.1	+	3	706_716	c.385_395delGGGGACTGGGC	c.(385-396)ggggactgggcafs	p.GDWA129fs	TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000356385.4_Intron|TMEM91_ENST00000436170.2_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000392002.2_Intron|TMEM91_ENST00000604123.1_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000542945.1_Frame_Shift_Del_p.GDWA129fs					transmembrane protein 91											lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGACTTGGAGGGGACTGGGCATAAAAGAGA	0.531													False	1	False	19:41888851	0	-	41888861	GGGGACTGGGC	-	41888851	7	5	67	1	0	1	0	1	0	0	0	0	16302	1015	35	0		0	TMEM91	19	41888851	Frame_Shift_Del	DEL	GGGGACTGGGC	TCGA-HZ-8315-01A-11D-2396-08	7708573	41888851	17240132	63	5706											
PSG9	5678	broad.mit.edu	37	chr19	43766196	43766196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccaccataggtagcttgcGtccagagtctcaggatcaca	9	12	2	1	rs150952802		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:43766196G>A	ENST00000244293.7	-	3	591	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Silent_p.D175D|PSG9_ENST00000270077.3_Silent_p.D175D|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	175	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAGCTTGCGTCCAGAGTCT	0.532													False	0	False	19:43766196	0	A	43766196	G	A	43766196	2	1	67	1	0	0	0	0	0	0	0	1	12738	1136	40	1		1	PSG9	19	43766196	Silent	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	1877345	43766196	15362787	64	5707											
KCNC3	3748	broad.mit.edu	37	chr19	50823922	50823922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcggtcccggctatagcGgccacggcttccaggcgtga	15	14	0	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:50823922G>A	ENST00000376959.2	-	3	2261	c.2098C>T	c.(2098-2100)Cgc>Tgc	p.R700C	KCNC3_ENST00000391818.2_Silent_p.A36A|KCNC3_ENST00000477616.1_Missense_Mutation_p.R700C|KCNC3_ENST00000474951.1_Missense_Mutation_p.R16C			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	700					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CGGCTATAGCGGCCACGGCTT	0.652													False	0	False	19:50823922	0	A	50823922	G	A	50823922	3	1	67	1	0	0	0	0	1	0	0	0	8066	1116	39	1	183	1	KCNC3	19	50823922	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	7057726	50823922	8305061	65	5708											
ZNF880	400713	broad.mit.edu	37	chr19	52888074	52888075	+	In_Frame_Ins	INS	-	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA													tacaaatgtaatgaatgtggINScaaagcatttagagactgtt							TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:52888074_52888075insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA	ENST00000422689.2	+	4	1256_1257	c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA	c.(1240-1245)ggcaaa>ggATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAcaaa	p.414_415GK>GS*GQEIETILANK		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	414					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AATGAATGTGGCAAAGCATTTA	0.411													False	0	True	19:52888074	0	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA	52888075	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA	52888074	7	5	67	1	0	1	1	0	0	0	0	0	18279	1203	42	0	1255	0	ZNF880	19	52888074	In_Frame_Ins	INS	-	TCGA-HZ-8315-01A-11D-2396-08	2064152	52888074	6240909	66	5709											
ZNF320	162967	broad.mit.edu	37	chr19	53384748	53384748	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaatgtttgtctcccctgtGaattctagtatgttttgcca	8	8	2	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:53384748G>A	ENST00000595635.1	-	8	1132	c.631C>T	c.(631-633)Cac>Tac	p.H211Y	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.H211Y	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTCCCCTGTGAATTCTAGTA	0.378													False	0	False	19:53384748	0	A	53384748	G	A	53384748	3	1	67	1	0	0	0	0	1	0	0	0	17922	1290	45	2	902	2	ZNF320	19	53384748	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	496674	53384748	5744235	67	5710											
ISM1	140862	broad.mit.edu	37	chr20	13260457	13260457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtacgacagtacctcagaCgacagcaacttcctcaaccc	6	15	2	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:13260457C>T	ENST00000262487.4	+	3	561	c.555C>T	c.(553-555)gaC>gaT	p.D185D	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor							extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GTACCTCAGACGACAGCAACT	0.597													False	0	False	20:13260457	0	T	13260457	C	T	13260457	2	4	67	1	0	0	0	0	0	0	0	1	7910	535	19	1		1	ISM1	20	13260457	Silent	SNP	C	TCGA-HZ-8315-01A-11D-2396-08		13260457	49765063	68	5711											
PLTP	5360	broad.mit.edu	37	chr20	44539794	44539794	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccccgccccccacttactcaGagatgttgtagtagaagtgg	10	13	1	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:44539794G>C	ENST00000542937.1	-	2	791	c.257C>G	c.(256-258)tCt>tGt	p.S86C	PLTP_ENST00000372431.3_Missense_Mutation_p.S66C|PLTP_ENST00000420868.2_Missense_Mutation_p.S66C|PLTP_ENST00000354050.4_Missense_Mutation_p.S66C|PLTP_ENST00000477313.1_Missense_Mutation_p.S66C			P55058	PLTP_HUMAN	phospholipid transfer protein	66					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CACTTACTCAGAGATGTTGTA	0.637													False	0	False	20:44539794	0	C	44539794	G	C	44539794	3	2	67	1	0	0	0	0	1	0	0	0	12183	942	33	5	1340	5	PLTP	20	44539794	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	31279337	44539794	18485726	69	5712											
KCNB1	3745	broad.mit.edu	37	chr20	47990731	47990731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccatcatctcaatgctccGggcaaaagcatccttcatgt	7	13	3	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:47990731G>A	ENST00000371741.4	-	2	1532	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	456					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCAATGCTCCGGGCAAAAGCA	0.453													False	0	True	20:47990731	0	A	47990731	G	A	47990731	3	1	67	1	0	0	0	0	1	0	0	0	8062	1115	39	1	1214	1	KCNB1	20	47990731	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	3450937	47990731	15034789	70	5713											
ADNP	23394	broad.mit.edu	37	chr20	49510803	49510803	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcttaggtttaaggccatCatttttgtttttatctttga	7	6	2	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:49510803C>T	ENST00000396029.3	-	5	1015	c.448G>A	c.(448-450)Gat>Aat	p.D150N	ADNP_ENST00000396032.3_Missense_Mutation_p.D150N|ADNP_ENST00000371602.4_Missense_Mutation_p.D150N|ADNP_ENST00000349014.3_Missense_Mutation_p.D150N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTAAGGCCATCATTTTTGTTT	0.398													False	0	False	20:49510803	0	T	49510803	C	T	49510803	3	4	67	1	0	0	0	0	1	0	0	0	323	826	29	2	2864	2	ADNP	20	49510803	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	1520072	49510803	13514717	71	5714											
RIMBP3	85376	broad.mit.edu	37	chr22	20458100	20458101	+	In_Frame_Ins	INS	-	-	CACCTG													gaggacatagttccccaataINScacctgcagcaagtcccgtg							TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:20458100_20458101insCACCTG	ENST00000426804.1	-	1	3685_3686	c.3201_3202insCAGGTG	c.(3199-3204)gtgtat>gtgCAGGTGtat	p.1066_1067insVQ		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GTTCCCCAATACACCTGCAGCA	0.673													False	1	False	22:20458100	0	CACCTG	20458101	-	CACCTG	20458100	7	5	67	1	0	1	1	0	0	0	0	0	13443	391	14	0	1721	0	RIMBP3	22	20458100	In_Frame_Ins	INS	-	TCGA-HZ-8315-01A-11D-2396-08		20458100	30846466	72	5715											
THOC5	8563	broad.mit.edu	37	chr22	29913325	29913325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcagggaagaggtactggCaatcactggtaactggcaca	14	8	1	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:29913325C>A	ENST00000490103.1	-	16	1642	c.1520G>T	c.(1519-1521)tGc>tTc	p.C507F	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Missense_Mutation_p.C507F|THOC5_ENST00000397873.2_Missense_Mutation_p.C507F|THOC5_ENST00000397871.1_Missense_Mutation_p.C507F	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	507					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGGTACTGGCAATCACTGGT	0.488													False	0	False	22:29913325	0	A	29913325	C	A	29913325	3	1	67	1	0	0	0	0	1	0	0	0	15950	710	25	3	551	3	THOC5	22	29913325	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	9455225	29913325	21391241	73	5716											
ARHGAP6	395	broad.mit.edu	37	chrX	11157013	11157013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgggcagggcatcgggGttgtcggtcgacaggagctc	18	10	1	0			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:11157013G>A	ENST00000337414.4	-	13	3767	c.2895C>T	c.(2893-2895)aaC>aaT	p.N965N	ARHGAP6_ENST00000303025.6_Silent_p.N762N|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Silent_p.N762N	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	965					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGGCATCGGGGTTGTCGGTCG	0.741													False	0	True	X:11157013	0	A	11157013	G	A	11157013	2	1	67	1	0	0	0	0	0	0	0	1	889	1252	44	2		2	ARHGAP6	23	11157013	Silent	SNP	G	TCGA-HZ-8315-01A-11D-2396-08		11157013	144113547	74	5717											
RBBP7	5931	broad.mit.edu	37	chrX	16876907	16876907	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtaacgagcacggtttacttCtccttcgtgattgattttaa	8	8	1	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:16876907C>T	ENST00000380087.2	-	4	733	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	RBBP7_ENST00000380084.4_Missense_Mutation_p.E169K|RBBP7_ENST00000404022.1_Missense_Mutation_p.E116K			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	125					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CGGTTTACTTCTCCTTCGTGA	0.393													False	0	False	X:16876907	0	T	16876907	C	T	16876907	3	4	67	1	0	0	0	0	1	0	0	0	13183	922	32	2	940	2	RBBP7	23	16876907	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	5719894	16876907	138393653	75	5718											
SHROOM4	57477	broad.mit.edu	37	chrX	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-													aatactggggtggcagctccTcttcctcctcctctgcctcc					rs3747282	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:50350672_50350674delTCT	ENST00000460112.3	-	5	3574_3576	c.3120_3122delAGA	c.(3118-3123)gaagag>gag	p.1040_1041EE>E	SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													False	1	False	X:50350672	0	-	50350674	TCT	-	50350672	7	5	67	1	0	1	0	1	0	0	0	0	14377	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-HZ-8315-01A-11D-2396-08	33473765	50350672	104919888	76	5719											
NLGN3	54413	broad.mit.edu	37	chrX	70367846	70367846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccccgatcggcgagaaaCgtttcctgccccctgaacca	8	18	0	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:70367846C>T	ENST00000374051.3	+	2	569	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	NLGN3_ENST00000536169.1_Missense_Mutation_p.R83C|NLGN3_ENST00000358741.3_Missense_Mutation_p.R83C	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	83					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CGGCGAGAAACGTTTCCTGCC	0.642													False	0	True	X:70367846	0	T	70367846	C	T	70367846	3	4	67	1	0	0	0	0	1	0	0	0	10531	536	19	1	249	1	NLGN3	23	70367846	Missense_Mutation	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	20017174	70367846	84902714	77	5720											
ABCB7	22	broad.mit.edu	37	chrX	74282184	74282184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagtaatcgaatctaaCgatgaagtagcttcatcata	6	8	5	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:74282184C>T	ENST00000253577.3	-	14	1941	c.1917G>A	c.(1915-1917)tcG>tcA	p.S639S	ABCB7_ENST00000339447.4_Silent_p.S598S|ABCB7_ENST00000373394.3_Silent_p.S638S	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	638	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TCGAATCTAACGATGAAGTAG	0.353													False	0	False	X:74282184	0	T	74282184	C	T	74282184	2	4	67	1	0	0	0	0	0	0	0	1	46	523	19	1		1	ABCB7	23	74282184	Silent	SNP	C	TCGA-HZ-8315-01A-11D-2396-08	3914338	74282184	80988376	78	5721											
CYLC1	1538	broad.mit.edu	37	chrX	83128929	83128929	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcaaagaaaattacaTtctctactgattctgaatct	6	7	3	3			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:83128929T>G	ENST00000329312.4	+	4	1250	c.1213T>G	c.(1213-1215)Ttc>Gtc	p.F405V		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	405					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAAATTACATTCTCTACTGA	0.318													False	0	False	X:83128929	0	G	83128929	T	G	83128929	3	3	67	1	0	0	0	0	1	0	0	0	4166	1493	52	4	1227	4	CYLC1	23	83128929	Missense_Mutation	SNP	T	TCGA-HZ-8315-01A-11D-2396-08	8846745	83128929	72141631	79	5722											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298663	125298663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagtagttcacccagacGtcatcttggttgagccagcc	9	13	3	2			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:125298663G>A	ENST00000538699.1	-	2	1325	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	DCAF12L2_ENST00000360028.2_Silent_p.D415D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	415										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCACCCAGACGTCATCTTGGT	0.617													False	0	False	X:125298663	0	A	125298663	G	A	125298663	2	1	67	1	0	0	0	0	0	0	0	1	4290	1136	40	1		1	DCAF12L2	23	125298663	Silent	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	42169734	125298663	29971897	80	5723											
MTM1	4534	broad.mit.edu	37	chrX	149839952	149839952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcttagccttacgcgacGaatacataaagcggcttgag	10	10	1	1			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:149839952G>A	ENST00000370396.2	+	15	1750	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K	MTM1_ENST00000543350.1_Missense_Mutation_p.E451K|MTM1_ENST00000413012.2_Missense_Mutation_p.E529K|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	566					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.E566K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTTACGCGACGAATACATAAA	0.522													False	0	False	X:149839952	0	A	149839952	G	A	149839952	3	1	67	1	0	0	0	0	1	0	0	0	10004	1059	37	1	1750	1	MTM1	23	149839952	Missense_Mutation	SNP	G	TCGA-HZ-8315-01A-11D-2396-08	24541289	149839952	5430608	81	5724											
PTCHD2	57540	broad.mit.edu	37	chr1	11579468	11579468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccccggagacgtgtttgCcgctcccgagcaggttggag	14	13	0	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:11579468C>T	ENST00000294484.6	+	8	2084	c.1946C>T	c.(1945-1947)gCc>gTc	p.A649V	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A649V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	649					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GACGTGTTTGCCGCTCCCGAG	0.637													False	0	False	1:11579468	0	T	11579468	C	T	11579468	3	4	68	1	0	0	0	0	1	0	0	0	12809	739	26	2	1972	2	PTCHD2	1	11579468	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08		11579468	237671153	1	5725											
AKR7A2	8574	broad.mit.edu	37	chr1	19632583	19632583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggcgctggcgccatatgCggcctgcagggccttctcca	16	14	1	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:19632583C>T	ENST00000235835.3	-	6	868	c.847G>A	c.(847-849)Gca>Aca	p.A283T		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	283					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCATATGCGGCCTGCAGG	0.632													False	0	False	1:19632583	0	T	19632583	C	T	19632583	3	4	68	1	0	0	0	0	1	0	0	0	475	768	27	1	240	1	AKR7A2	1	19632583	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	8053115	19632583	229618038	2	5726											
IFI44	10561	broad.mit.edu	37	chr1	79128422	79128422	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aaagaaaacttggatttgctCtttctgacatctcggtggtt	9	7	3	2			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:79128422C>G	ENST00000370747.4	+	8	1232	c.1147C>G	c.(1147-1149)Ctt>Gtt	p.L383V	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	383					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGGATTTGCTCTTTCTGACAT	0.368													False	0	True	1:79128422	0	G	79128422	C	G	79128422	3	3	68	1	0	0	0	0	1	0	0	0	7567	913	32	5	1173	5	IFI44	1	79128422	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	59495839	79128422	170122199	3	5727											
FLG2	388698	broad.mit.edu	37	chr1	152327955	152327955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaactgtgttggccataGctagactgacctgatctaga	10	10	1	5			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517													False	0	False	1:152327955	0	A	152327955	G	A	152327955	2	1	68	1	0	0	0	0	0	0	0	1	5963	962	34	2		2	FLG2	1	152327955	Silent	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	73199533	152327955	96922666	4	5728											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	68	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-HZ-8317-01A-11D-2396-08	343560	152671515	96579106	5	5729											
MUC1	4582	broad.mit.edu	37	chr1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatcgtgggctggcggggTggtggagcccagggctggcc	21	10	0	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000343256.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000462215.1_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL								False	0	True	1:155161799	0	G	155161799	T	G	155161799	3	3	68	1	0	0	0	0	1	0	0	0	10037	1711	59	4		4	MUC1	1	155161799	Missense_Mutation	SNP	T	TCGA-HZ-8317-01A-11D-2396-08	2490284	155161799	94088822	6	5730											
HEATR1	55127	broad.mit.edu	37	chr1	236739626	236739626	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtttcagacaacttctgatGagatttcagtttcttttctc	6	8	5	3			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:236739626G>A	ENST00000366582.3	-	22	3091	c.2977C>T	c.(2977-2979)Cat>Tat	p.H993Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.H993Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	993					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTTCTGATGAGATTTCAGT	0.318													False	0	False	1:236739626	0	A	236739626	G	A	236739626	3	1	68	1	0	0	0	0	1	0	0	0	7074	1290	45	2	3553	2	HEATR1	1	236739626	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	81577827	236739626	12510995	7	5731											
SLC8A1	6546	broad.mit.edu	37	chr2	40656239	40656239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacttcagtgttgacctcGtgcatgctgacagccttcct	9	13	2	2			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:40656239G>A	ENST00000406785.2	-	2	1371	c.1182C>T	c.(1180-1182)caC>caT	p.H394H	SLC8A1_ENST00000332839.4_Silent_p.H394H|SLC8A1_ENST00000406391.2_Silent_p.H394H|SLC8A1_ENST00000542756.1_Silent_p.H394H|SLC8A1_ENST00000402441.1_Silent_p.H394H|SLC8A1_ENST00000542024.1_Silent_p.H394H|SLC8A1_ENST00000405901.3_Silent_p.H394H|SLC8A1_ENST00000408028.2_Silent_p.H394H|SLC8A1_ENST00000403092.1_Silent_p.H394H|SLC8A1_ENST00000405269.1_Silent_p.H394H			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGTTGACCTCGTGCATGCTGA	0.468													False	0	False	2:40656239	0	A	40656239	G	A	40656239	2	1	68	1	0	0	0	0	0	0	0	1	14786	1136	40	1		1	SLC8A1	2	40656239	Silent	SNP	G	TCGA-HZ-8317-01A-11D-2396-08		40656239	202543134	8	5732											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	68	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-HZ-8317-01A-11D-2396-08	57191126	97847365	145352008	9	5733											
PASK	23178	broad.mit.edu	37	chr2	242046038	242046038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccttggccattaggagcCtcgcctggaacggggccccc	13	16	0	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:242046038C>A	ENST00000405260.1	-	18	4613	c.3915G>T	c.(3913-3915)gaG>gaT	p.E1305D	PASK_ENST00000234040.4_Missense_Mutation_p.E1305D|PASK_ENST00000544142.1_Missense_Mutation_p.E1119D|PASK_ENST00000539818.1_Missense_Mutation_p.E1089D|PASK_ENST00000358649.4_Missense_Mutation_p.E1312D	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1305					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CATTAGGAGCCTCGCCTGGAA	0.572													False	0	False	2:242046038	0	A	242046038	C	A	242046038	3	1	68	1	0	0	0	0	1	0	0	0	11540	680	24	3	60	3	PASK	2	242046038	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	144198673	242046038	1153335	10	5734											
TATDN2	9797	broad.mit.edu	37	chr3	10312110	10312110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaagagcagccggagccGcatgagtgattattccccca	13	11	0	3			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:10312110G>A	ENST00000287652.4	+	4	2295	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	TATDN2_ENST00000448281.2_Missense_Mutation_p.R415H|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	415						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.R415H(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGCCGGAGCCGCATGAGTGAT	0.567													False	0	False	3:10312110	0	A	10312110	G	A	10312110	3	1	68	1	0	0	0	0	1	0	0	0	15674	1087	38	1	1254	1	TATDN2	3	10312110	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08		10312110	187710320	11	5735											
CCR3	1232	broad.mit.edu	37	chr3	46307531	46307531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatcgcctactcccactgCtgcatgaacccggtgatcta	9	14	1	3			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:46307531C>T	ENST00000357422.2	+	4	1425	c.882C>T	c.(880-882)tgC>tgT	p.C294C	CCR3_ENST00000541018.1_Silent_p.C294C|CCR3_ENST00000395940.2_Silent_p.C294C|CCR3_ENST00000395942.2_Silent_p.C294C|CCR3_ENST00000545097.1_Silent_p.C315C			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	294					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ACTCCCACTGCTGCATGAACC	0.527													False	0	False	3:46307531	0	T	46307531	C	T	46307531	2	4	68	1	0	0	0	0	0	0	0	1	2965	805	28	2		2	CCR3	3	46307531	Silent	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	35995421	46307531	151714899	12	5736											
RHOA	387	broad.mit.edu	37	chr3	49405942	49405942	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcctcaggcgatcatAatcttcctgcccagctgtgt	12	12	3	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:49405942A>T	ENST00000418115.1	-	3	580	c.196T>A	c.(196-198)Tat>Aat	p.Y66N	RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.Y66N	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	66					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGCGATCATAATCTTCCTGC	0.493													False	0	False	3:49405942	0	T	49405942	A	T	49405942	3	4	68	1	0	0	0	0	1	0	0	0	13410	362	13	5	397	5	RHOA	3	49405942	Missense_Mutation	SNP	A	TCGA-HZ-8317-01A-11D-2396-08	3098411	49405942	148616488	13	5737											
MST1	4485	broad.mit.edu	37	chr3	49724639	49724639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagcagggtctgttgtgtAgcaccaaggacctccggggt	14	11	1	0	rs41291704		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:49724639A>G	ENST00000449682.2	-	5	911	c.550T>C	c.(550-552)Tac>Cac	p.Y184H	MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.Y109H|MST1_ENST00000545762.1_Silent_p.A131A	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	170	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGTTGTGTAGCACCAAGGA	0.627													False	0	False	3:49724639	0	G	49724639	A	G	49724639	3	3	68	1	0	0	0	0	1	0	0	0	9957	420	15	4	1683	4	MST1	3	49724639	Missense_Mutation	SNP	A	TCGA-HZ-8317-01A-11D-2396-08	318697	49724639	148297791	14	5738											
TPRG1	285386	broad.mit.edu	37	chr3	189028237	189028237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagtctcttctgtcccGctggaacccatggtccactg	11	14	2	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:189028237G>A	ENST00000345063.3	+	5	709	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TPRG1_ENST00000433971.1_Missense_Mutation_p.R181H	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	181										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CTTCTGTCCCGCTGGAACCCA	0.473													False	0	True	3:189028237	0	A	189028237	G	A	189028237	3	1	68	1	0	0	0	0	1	0	0	0	16501	1087	38	1	556	1	TPRG1	3	189028237	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	139303598	189028237	8994193	15	5739											
DRD5	0	broad.mit.edu	37	chr4	9784853	9784853	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atctcctacaaccaagacatCgtcttccacaaggaaatcgc	5	14	2	1	rs114936842	by1000genomes	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:9784853C>G	ENST00000304374.2	+	1	1596	c.1200C>G	c.(1198-1200)atC>atG	p.I400M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	400					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.I400M(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACCAAGACATCGTCTTCCACA	0.592													False	0	False	4:9784853	0	G	9784853	C	G	9784853	3	3	68	1	0	0	0	0	1	0	0	0	4790	874	31	5	1202	5	DRD5	4	9784853	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08		9784853	181369423	16	5740											
KLB	152831	broad.mit.edu	37	chr4	39448687	39448687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccgctcttcaagaccgggGactaccccgcggccatgagg	13	15	2	2			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:39448687G>A	ENST00000257408.4	+	4	2438	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	781	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAAGACCGGGGACTACCCCGC	0.672													False	0	True	4:39448687	0	A	39448687	G	A	39448687	3	1	68	1	0	0	0	0	1	0	0	0	8382	1174	41	2	2355	2	KLB	4	39448687	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	29663834	39448687	151705589	17	5741											
LPHN3	23284	broad.mit.edu	37	chr4	62812695	62812695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatttatccacggagaatgCcagtatgaagttgggaacgg	12	6	0	2			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:62812695C>T	ENST00000512091.2	+	15	3026	c.2279C>T	c.(2278-2280)gCc>gTc	p.A760V	LPHN3_ENST00000508946.1_Missense_Mutation_p.A760V|LPHN3_ENST00000508693.1_Missense_Mutation_p.A828V|LPHN3_ENST00000514157.1_Missense_Mutation_p.A760V|LPHN3_ENST00000514996.1_Missense_Mutation_p.A760V|LPHN3_ENST00000545650.1_Missense_Mutation_p.A760V|LPHN3_ENST00000506746.1_Missense_Mutation_p.A828V|LPHN3_ENST00000514591.1_Missense_Mutation_p.A760V|LPHN3_ENST00000509896.1_Missense_Mutation_p.A828V|LPHN3_ENST00000507625.1_Missense_Mutation_p.A828V|LPHN3_ENST00000511324.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506720.1_Missense_Mutation_p.A828V|LPHN3_ENST00000507164.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506700.1_Missense_Mutation_p.A760V|LPHN3_ENST00000504896.1_Missense_Mutation_p.A760V|LPHN3_ENST00000508078.1_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.A760V(3)|p.A760G(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACGGAGAATGCCAGTATGAAG	0.403													False	0	False	4:62812695	0	T	62812695	C	T	62812695	3	4	68	1	0	0	0	0	1	0	0	0	8979	739	26	2	2329	2	LPHN3	4	62812695	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	23364008	62812695	128341581	18	5742											
COPS4	51138	broad.mit.edu	37	chr4	83978424	83978424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttaggtatgctatgcacGtgttcttgattatagaagaa	10	5	1	3			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:83978424G>A	ENST00000509093.1	+	6	1356	c.578G>A	c.(577-579)cGt>cAt	p.R193H	COPS4_ENST00000511653.1_Missense_Mutation_p.R193H|COPS4_ENST00000264389.2_Missense_Mutation_p.R193H|COPS4_ENST00000503682.1_Missense_Mutation_p.R193H	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	193					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TGCTATGCACGTGTTCTTGAT	0.338													False	0	False	4:83978424	0	A	83978424	G	A	83978424	3	1	68	1	0	0	0	0	1	0	0	0	3758	1145	40	1	600	1	COPS4	4	83978424	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	21165729	83978424	107175852	19	5743											
POU4F2	5458	broad.mit.edu	37	chr4	147561030	147561030	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caattgcagagcaatatattCggcgggctggatgagagtct	13	7	1	2			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:147561030C>A	ENST00000281321.3	+	2	548	c.300C>A	c.(298-300)ttC>ttA	p.F100L		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	100					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCAATATATTCGGCGGGCTGG	0.612													False	0	False	4:147561030	0	A	147561030	C	A	147561030	3	1	68	1	0	0	0	0	1	0	0	0	12348	883	31	3	306	3	POU4F2	4	147561030	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	63582606	147561030	43593246	20	5744											
DNAH5	1767	broad.mit.edu	37	chr5	13793653	13793653	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtccacagaagcttcagagGgcaacgtgcaattaaatata	9	8	1	2			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:13793653G>T	ENST00000265104.4	-	49	8299	c.8195C>A	c.(8194-8196)cCc>cAc	p.P2732H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2732	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTTCAGAGGGCAACGTGCA	0.468									Kartagener syndrome				False	0	True	5:13793653	0	T	13793653	G	T	13793653	3	4	68	1	0	0	0	0	1	0	0	0	4634	1232	43	3	5803	3	DNAH5	5	13793653	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08		13793653	167121607	21	5745											
PCDHB13	0	broad.mit.edu	37	chr5	140594939	140594939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actagacagagaaagcagagCggaatacaacatcactatca	8	9	2	3			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:140594939C>T	ENST00000341948.4	+	1	1431	c.1244C>T	c.(1243-1245)gCg>gTg	p.A415V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		415	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAGCAGAGCGGAATACAAC	0.478													False	0	False	5:140594939	0	T	140594939	C	T	140594939	3	4	68	1	0	0	0	0	1	0	0	0	11606	768	27	1	1246	1	PCDHB13	5	140594939	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	126801286	140594939	40320321	22	5746											
PCDHGA1	0	broad.mit.edu	37	chr5	140712120	140712120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcggtgggtctgcacacGggcgaggtgcgcacggcgcg	18	12	2	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:140712120G>A	ENST00000517417.1	+	1	1869	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	PCDHGA1_ENST00000378105.3_Silent_p.T623T	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGCACACGGGCGAGGTGC	0.701													False	0	True	5:140712120	0	A	140712120	G	A	140712120	2	1	68	1	0	0	0	0	0	0	0	1	11618	1103	39	1		1	PCDHGA1	5	140712120	Silent	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	117181	140712120	40203140	23	5747											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	68	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-HZ-8317-01A-11D-2396-08		7393450	163721617	24	5748											
SYNGAP1	8831	broad.mit.edu	37	chr6	33405686	33405686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgactcagacaaaaagcGcaagaaggacaaggcaggct	12	10	1	3			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:33405686G>A	ENST00000418600.2	+	8	1105	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R276H|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R335H	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	335	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GACAAAAAGCGCAAGAAGGAC	0.607													False	0	False	6:33405686	0	A	33405686	G	A	33405686	3	1	68	1	0	0	0	0	1	0	0	0	15529	1087	38	1	1034	1	SYNGAP1	6	33405686	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	26012236	33405686	137709381	25	5749											
STXBP5	0	broad.mit.edu	37	chr6	147703993	147703993	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcattgaaggcgtaaaAggggcagcatctggagttgt	17	5	1	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:147703993A>G	ENST00000367481.3	+	25	3273	c.3165A>G	c.(3163-3165)aaA>aaG	p.K1055K	STXBP5_ENST00000321680.6_Silent_p.K1091K|STXBP5_ENST00000367480.3_Silent_p.K1038K|STXBP5_ENST00000179882.6_Silent_p.K746K	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1091					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AAGGCGTAAAAGGGGCAGCAT	0.502													False	0	True	6:147703993	0	G	147703993	A	G	147703993	2	3	68	1	0	0	0	0	0	0	0	1	15438	69	3	4		4	STXBP5	6	147703993	Silent	SNP	A	TCGA-HZ-8317-01A-11D-2396-08	114298307	147703993	23411074	26	5750											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	68	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-HZ-8317-01A-11D-2396-08		44153778	114984885	27	5751											
CFTR	1080	broad.mit.edu	37	chr7	117188841	117188843	+	In_Frame_Del	DEL	GTT	GTT	-													ttcaagatagaaagaggacaGttgttggcggttgctggatc							TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	GTT	GTT	-	-	GTT	GTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr7:117188841_117188843delGTT	ENST00000003084.6	+	10	1488_1490	c.1356_1358delGTT	c.(1354-1359)cagttg>cag	p.L454del	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	454	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAAGAGGACAGTTGTTGGCGGTT	0.379									Cystic Fibrosis				False	2	False	7:117188841	0	-	117188843	GTT	-	117188841	7	5	68	1	0	1	0	1	0	0	0	0	3317	1020	36	0	1394	0	CFTR	7	117188841	In_Frame_Del	DEL	GTT	TCGA-HZ-8317-01A-11D-2396-08	73035063	117188841	41949822	28	5752											
PABPC1	26986	broad.mit.edu	37	chr8	101719034	101719035	+	Splice_Site	INS	-	-	AACACACTGTGTTGACATGACTTGTGGAACCTG													gtctgtgttgatgtgttagcINStaaaaaataagaacattttg							TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr8:101719034_101719035insAACACACTGTGTTGACATGACTTGTGGAACCTG	ENST00000318607.5	-	11	2576		c.e11-1		PABPC1_ENST00000522387.1_Splice_Site|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Splice_Site	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GATGTGTTAGCTAAAAAATAAG	0.426													False	0	True	8:101719034	0	AACACACTGTGTTGACATGACTTGTGGAACCTG	101719035	-	AACACACTGTGTTGACATGACTTGTGGAACCTG	101719034	8	5	68	1	0	1	1	0	0	0	1	0	11431	811	28	0	479	0	PABPC1	8	101719034	Splice_Site	INS	-	TCGA-HZ-8317-01A-11D-2396-08		101719034	44644988	29	5753											
FREM1	158326	broad.mit.edu	37	chr9	14842569	14842569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaatatccggaagaccaCgaagtctttggtggagtcgc	11	9	2	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:14842569C>T	ENST00000380881.4	-	10	2301	c.1486G>A	c.(1486-1488)Gtg>Atg	p.V496M	FREM1_ENST00000380880.3_Missense_Mutation_p.V495M|FREM1_ENST00000422223.2_Missense_Mutation_p.V495M			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	495					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.V496L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CGGAAGACCACGAAGTCTTTG	0.517													False	0	False	9:14842569	0	T	14842569	C	T	14842569	3	4	68	1	0	0	0	0	1	0	0	0	6086	536	19	1	5222	1	FREM1	9	14842569	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08		14842569	126370862	30	5754											
OR1L4	254973	broad.mit.edu	37	chr9	125486583	125486583	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgatccagatgtacttcttCatggcatttgggaacactga	9	9	2	3	rs139043736	by1000genomes	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:125486583C>T	ENST00000259466.1	+	1	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F105F(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGTACTTCTTCATGGCATTTG	0.473													False	0	False	9:125486583	0	T	125486583	C	T	125486583	2	4	68	1	0	0	0	0	0	0	0	1	11033	825	29	2		2	OR1L4	9	125486583	Silent	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	110644014	125486583	15726848	31	5755											
ENTPD8	377841	broad.mit.edu	37	chr9	140331454	140331454	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggtgactgctgcaaagatgTccctggcctgagagctgttc	14	10	0	3			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:140331454T>C	ENST00000371506.2	-	5	605	c.422A>G	c.(421-423)gAc>gGc	p.D141G	ENTPD8_ENST00000472938.1_Missense_Mutation_p.D141G|ENTPD8_ENST00000344119.2_Missense_Mutation_p.D141G	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	141						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGCAAAGATGTCCCTGGCCTG	0.682													False	0	True	9:140331454	0	C	140331454	T	C	140331454	3	2	68	1	0	0	0	0	1	0	0	0	5177	1667	58	4	1089	4	ENTPD8	9	140331454	Missense_Mutation	SNP	T	TCGA-HZ-8317-01A-11D-2396-08	14844871	140331454	881977	32	5756											
CTNNA3	29119	broad.mit.edu	37	chr10	68940142	68940142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgcattctgcgataatcCgctctcggtgtaagtccctc	9	13	2	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:68940142C>T	ENST00000433211.2	-	7	1154	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	CTNNA3_ENST00000545309.1_Missense_Mutation_p.R327Q|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R327Q	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.R327Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGCGATAATCCGCTCTCGGTG	0.517													False	0	False	10:68940142	0	T	68940142	C	T	68940142	3	4	68	1	0	0	0	0	1	0	0	0	4039	652	23	1	1755	1	CTNNA3	10	68940142	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08		68940142	66594605	33	5757											
OR52A1	23538	broad.mit.edu	37	chr11	5173196	5173196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgggtgaagatgttgGcatgtcttagtggataacag	16	4	1	2			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:5173196G>A	ENST00000380367.1	-	2	821	c.404C>T	c.(403-405)gCc>gTc	p.A135V	OR52A1_ENST00000328942.1_Missense_Mutation_p.A135V			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	135					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGATGTTGGCATGTCTTAG	0.498													False	0	False	11:5173196	0	A	5173196	G	A	5173196	3	1	68	1	0	0	0	0	1	0	0	0	11176	1203	42	2	536	2	OR52A1	11	5173196	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08		5173196	129833320	34	5758											
SYT9	143425	broad.mit.edu	37	chr11	7334873	7334873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaagctgtcaatttgcccGccaaggacttttctgggact	9	11	2	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:7334873G>A	ENST00000318881.6	+	3	982	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	SYT9_ENST00000396716.2_Missense_Mutation_p.A217T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	249	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.A249T(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAATTTGCCCGCCAAGGACTT	0.408													False	0	True	11:7334873	0	A	7334873	G	A	7334873	3	1	68	1	0	0	0	0	1	0	0	0	15563	1087	38	1	755	1	SYT9	11	7334873	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	2161677	7334873	127671643	35	5759											
LDHC	3948	broad.mit.edu	37	chr11	18467784	18467784	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaattatcaagctgaagggGtatacctcttgggctattgg	12	6	2	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:18467784G>T	ENST00000541669.1	+	7	849	c.738G>T	c.(736-738)ggG>ggT	p.G246G	LDHC_ENST00000536880.1_Silent_p.G232G|LDHC_ENST00000280704.4_Silent_p.G246G|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000544105.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	246					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	AGCTGAAGGGGTATACCTCTT	0.378													False	0	True	11:18467784	0	T	18467784	G	T	18467784	2	4	68	1	0	0	0	0	0	0	0	1	8753	1248	44	3		3	LDHC	11	18467784	Silent	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	11132911	18467784	116538732	36	5760											
GRM5	2915	broad.mit.edu	37	chr11	88780514	88780514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtcactcagatccatgCtggttgctgagtaagcaatc	9	10	3	2	rs151175803	by1000genomes	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:88780514C>A	ENST00000418177.2	-	2	894	c.527G>T	c.(526-528)aGc>aTc	p.S176I	GRM5_ENST00000305432.5_Missense_Mutation_p.S176I|GRM5_ENST00000393294.3_Missense_Mutation_p.S176I|GRM5_ENST00000393297.1_Missense_Mutation_p.S176I|GRM5_ENST00000305447.4_Missense_Mutation_p.S176I|GRM5_ENST00000455756.2_Missense_Mutation_p.S176I			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	176					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CAGATCCATGCTGGTTGCTGA	0.483													False	0	False	11:88780514	0	A	88780514	C	A	88780514	3	1	68	1	0	0	0	0	1	0	0	0	6847	797	28	3	3147	3	GRM5	11	88780514	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	70312730	88780514	46226002	37	5761											
GRM5	2915	broad.mit.edu	37	chr11	88780631	88780631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgggcttcttggagcggAaggaagaggaggagccatcc	16	8	1	1	rs72954992	by1000genomes	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:88780631A>G	ENST00000418177.2	-	2	777	c.410T>C	c.(409-411)tTc>tCc	p.F137S	GRM5_ENST00000305432.5_Missense_Mutation_p.F137S|GRM5_ENST00000393294.3_Missense_Mutation_p.F137S|GRM5_ENST00000393297.1_Missense_Mutation_p.F137S|GRM5_ENST00000305447.4_Missense_Mutation_p.F137S|GRM5_ENST00000455756.2_Missense_Mutation_p.F137S			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	137					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTTGGAGCGGAAGGAAGAGGA	0.502													False	0	True	11:88780631	0	G	88780631	A	G	88780631	3	3	68	1	0	0	0	0	1	0	0	0	6847	246	9	4	3264	4	GRM5	11	88780631	Missense_Mutation	SNP	A	TCGA-HZ-8317-01A-11D-2396-08	117	88780631	46225885	38	5762											
GRIK4	2900	broad.mit.edu	37	chr11	120838027	120838027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggaggaagatcacagagCtaaaggtaaggacgttcagg	14	6	2	2			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:120838027C>T	ENST00000527524.2	+	19	2677	c.2390C>T	c.(2389-2391)gCt>gTt	p.A797V	GRIK4_ENST00000438375.2_Missense_Mutation_p.A797V	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	797					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GATCACAGAGCTAAAGGTAAG	0.522													False	0	False	11:120838027	0	T	120838027	C	T	120838027	3	4	68	1	0	0	0	0	1	0	0	0	6823	797	28	2	2456	2	GRIK4	11	120838027	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	32057396	120838027	14168489	39	5763											
KCNA1	3736	broad.mit.edu	37	chr12	5021286	5021286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgcctgccccagcaagacgGacttcttcaaaaacatcatg	7	14	3	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:5021286G>A	ENST00000382545.3	+	2	1849	c.742G>A	c.(742-744)Gac>Aac	p.D248N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	248					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGCAAGACGGACTTCTTCAA	0.493													False	0	False	12:5021286	0	A	5021286	G	A	5021286	3	1	68	1	0	0	0	0	1	0	0	0	8051	1174	41	2	744	2	KCNA1	12	5021286	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08		5021286	128830609	40	5764											
CD163L1	283316	broad.mit.edu	37	chr12	7559406	7559406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctactctccccatacagCggttagttccacctacaagc	6	16	2	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:7559406C>T	ENST00000313599.3	-	5	866	c.809G>A	c.(808-810)cGc>cAc	p.R270H	CD163L1_ENST00000416109.2_Missense_Mutation_p.R280H|CD163L1_ENST00000396630.1_Missense_Mutation_p.R270H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	270	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATACAGCGGTTAGTTCC	0.448													False	0	False	12:7559406	0	T	7559406	C	T	7559406	3	4	68	1	0	0	0	0	1	0	0	0	2991	768	27	1	3612	1	CD163L1	12	7559406	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	2538120	7559406	126292489	41	5765											
DDX11	1663	broad.mit.edu	37	chr12	31256819	31256819	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcccttcctttgtcctgccCgctggagacagtgtttgtcg	11	13	0	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:31256819C>G	ENST00000407793.2	+	27	3016	c.2765C>G	c.(2764-2766)cCg>cGg	p.P922R	DDX11_ENST00000228264.6_3'UTR|DDX11_ENST00000542838.1_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.P922R	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	922					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTGTCCTGCCCGCTGGAGACA	0.607										Multiple Myeloma(12;0.14)			False	0	True	12:31256819	0	G	31256819	C	G	31256819	3	3	68	1	0	0	0	0	1	0	0	0	4368	652	23	5	2872	5	DDX11	12	31256819	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	23697413	31256819	102595076	42	5766											
LRP1	4035	broad.mit.edu	37	chr12	57606324	57606324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccctgaggacgagatagggGaccccttggcatagggccct	15	12	0	2			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:57606324G>A	ENST00000243077.3	+	89	14087	c.13621G>A	c.(13621-13623)Gac>Aac	p.D4541N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4541	Interaction with MAFB (By similarity).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGAGATAGGGGACCCCTTGGC	0.677													False	0	True	12:57606324	0	A	57606324	G	A	57606324	3	1	68	1	0	0	0	0	1	0	0	0	9013	1174	41	2	13975	2	LRP1	12	57606324	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	26349505	57606324	76245571	43	5767											
NBEA	26960	broad.mit.edu	37	chr13	35630161	35630161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaagtggtacatgatcagCattgtccacatttacaatcg	7	8	1	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr13:35630161C>T	ENST00000540320.1	+	7	1521	c.987C>T	c.(985-987)agC>agT	p.S329S	NBEA_ENST00000400445.3_Silent_p.S329S|NBEA_ENST00000379939.2_Silent_p.S329S|NBEA_ENST00000310336.4_Silent_p.S329S			Q8NFP9	NBEA_HUMAN	neurobeachin	329						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACATGATCAGCATTGTCCACA	0.318													False	0	False	13:35630161	0	T	35630161	C	T	35630161	2	4	68	1	0	0	0	0	0	0	0	1	10254	709	25	2		2	NBEA	13	35630161	Silent	SNP	C	TCGA-HZ-8317-01A-11D-2396-08		35630161	79539717	44	5768											
CHD8	57680	broad.mit.edu	37	chr14	21868724	21868724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatctcgttcagtcataCgtcgcttgaagcgtccatga	8	13	3	2			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:21868724C>T	ENST00000399982.2	-	22	4482	c.4418G>A	c.(4417-4419)cGt>cAt	p.R1473H	CHD8_ENST00000557364.1_Missense_Mutation_p.R1473H|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R1194H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1473					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCAGTCATACGTCGCTTGAA	0.428													False	0	False	14:21868724	0	T	21868724	C	T	21868724	3	4	68	1	0	0	0	0	1	0	0	0	3354	536	19	1	3391	1	CHD8	14	21868724	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08		21868724	85480816	45	5769											
CTSG	1511	broad.mit.edu	37	chr14	25043976	25043976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttgctgggtgttttcccGtctctggatattgtgggcgc	15	8	1	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:25043976G>A	ENST00000216336.2	-	3	280	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	82	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTGTTTTCCCGTCTCTGGATA	0.532													False	0	True	14:25043976	0	A	25043976	G	A	25043976	3	1	68	1	0	0	0	0	1	0	0	0	4060	1144	40	1	535	1	CTSG	14	25043976	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	3175252	25043976	82305564	46	5770											
RALGAPA1	253959	broad.mit.edu	37	chr14	36064899	36064899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgacacgtgaaatattaCctctactgtagaggtagcaa	9	7	1	3			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:36064899C>T	ENST00000258840.6	-	37	6163	c.5773G>A	c.(5773-5775)Gta>Ata	p.V1925I	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.V1878I|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.V1878I|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.V1891I	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1878	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGAAATATTACCTCTACTGTA	0.353													False	0	False	14:36064899	0	T	36064899	C	T	36064899	3	4	68	1	0	0	0	0	1	0	0	0	13092	507	18	2	651	2	RALGAPA1	14	36064899	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	11020923	36064899	71284641	47	5771											
GPR135	64582	broad.mit.edu	37	chr14	59930560	59930560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtacaactggatttttgCgggcccacatggccacgtcc	10	12	0	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:59930560C>T	ENST00000395116.1	-	1	1500	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	462						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R462H(2)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		TGGATTTTTGCGGGCCCACAT	0.607													False	0	True	14:59930560	0	T	59930560	C	T	59930560	3	4	68	1	0	0	0	0	1	0	0	0	6690	768	27	1	103	1	GPR135	14	59930560	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	23865661	59930560	47418980	48	5772											
SPTB	6710	broad.mit.edu	37	chr14	65260215	65260215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagctggtcccactgtgcCgacacctcctttatgcgggc	10	15	1	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:65260215C>T	ENST00000389722.3	-	13	2219	c.2166G>A	c.(2164-2166)tcG>tcA	p.S722S	SPTB_ENST00000542895.1_Silent_p.S722S|SPTB_ENST00000556626.1_Silent_p.S722S|SPTB_ENST00000389720.3_Silent_p.S722S|SPTB_ENST00000389721.5_Silent_p.S722S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	722					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCACTGTGCCGACACCTCCT	0.582													False	0	False	14:65260215	0	T	65260215	C	T	65260215	2	4	68	1	0	0	0	0	0	0	0	1	15200	639	23	1		1	SPTB	14	65260215	Silent	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	5329655	65260215	42089325	49	5773											
AHNAK2	113146	broad.mit.edu	37	chr14	105412376	105412376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaacttgctgtctttggCagtcacatccttgtcggcca	9	11	2	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:105412376C>T	ENST00000333244.5	-	7	9531	c.9412G>A	c.(9412-9414)Gcc>Acc	p.A3138T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3138						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTCTTTGGCAGTCACATCC	0.602													False	0	False	14:105412376	0	T	105412376	C	T	105412376	3	4	68	1	0	0	0	0	1	0	0	0	415	710	25	2	7979	2	AHNAK2	14	105412376	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	40152161	105412376	1937164	50	5774											
HERC2	8924	broad.mit.edu	37	chr15	28370291	28370291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggatggcattggtggttCcgtctcccagttgtccctca	11	12	3	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:28370291C>T	ENST00000261609.7	-	84	12959	c.12851G>A	c.(12850-12852)gGa>gAa	p.G4284E		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4284					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATTGGTGGTTCCGTCTCCCAG	0.532													False	0	False	15:28370291	0	T	28370291	C	T	28370291	3	4	68	1	0	0	0	0	1	0	0	0	7105	855	30	2	1693	2	HERC2	15	28370291	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08		28370291	74161101	51	5775											
TGM5	9333	broad.mit.edu	37	chr15	43527883	43527883	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcaccacatcactgggtcGaagggaaggtgtatgcaggc	14	9	1	0	rs144532387	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:43527883G>A	ENST00000220420.5	-	10	1505	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	TGM5_ENST00000349114.4_Nonsense_Mutation_p.R418*	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	500					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCACTGGGTCGAAGGGAAGGT	0.562													False	0	True	15:43527883	0	A	43527883	G	A	43527883	4	1	68	1	0	0	0	0	0	1	0	0	15915	1066	37	1	680	1	TGM5	15	43527883	Nonsense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	15157592	43527883	59003509	52	5776											
TLE3	7090	broad.mit.edu	37	chr15	70346894	70346894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaggcgggagccgaggacGtcagctcggccttgatgcgg	17	11	1	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:70346894G>T	ENST00000558939.1	-	16	3095	c.1718C>A	c.(1717-1719)aCg>aAg	p.T573K	TLE3_ENST00000451782.2_Missense_Mutation_p.T570K|TLE3_ENST00000557997.1_Missense_Mutation_p.T565K|TLE3_ENST00000558379.1_Missense_Mutation_p.T568K|TLE3_ENST00000442299.2_Missense_Mutation_p.T565K|TLE3_ENST00000539550.1_Missense_Mutation_p.T500K|TLE3_ENST00000560939.1_Missense_Mutation_p.T575K|TLE3_ENST00000560589.1_Missense_Mutation_p.T517K|TLE3_ENST00000559191.1_Missense_Mutation_p.T154K|TLE3_ENST00000557907.1_Missense_Mutation_p.T565K|TLE3_ENST00000559048.1_Missense_Mutation_p.T573K|TLE3_ENST00000558201.1_Missense_Mutation_p.T579K|TLE3_ENST00000559929.1_Missense_Mutation_p.T583K|TLE3_ENST00000440567.3_Missense_Mutation_p.T563K|TLE3_ENST00000317509.8_Missense_Mutation_p.T561K	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	573					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCCGAGGACGTCAGCTCGGC	0.662													False	0	False	15:70346894	0	T	70346894	G	T	70346894	3	4	68	1	0	0	0	0	1	0	0	0	16022	1145	40	3	620	3	TLE3	15	70346894	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	26819011	70346894	32184498	53	5777											
ABCA3	21	broad.mit.edu	37	chr16	2347809	2347809	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgccgatggagagcttgcgCctcatgcccccgctcaggaa	12	14	2	1	rs149496917	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:2347809C>G	ENST00000301732.5	-	16	2710	c.2010G>C	c.(2008-2010)agG>agC	p.R670S	ABCA3_ENST00000382381.3_Missense_Mutation_p.R612S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	670	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGAGCTTGCGCCTCATGCCCC	0.632													False	0	False	16:2347809	0	G	2347809	C	G	2347809	3	3	68	1	0	0	0	0	1	0	0	0	33	738	26	5	3176	5	ABCA3	16	2347809	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08		2347809	88006944	54	5778											
UBN1	29855	broad.mit.edu	37	chr16	4924840	4924840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaaagtctttcatgccgGcactcagcagcagaaaaact	9	11	4	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr16:4924840G>A	ENST00000396658.4	+	14	3132	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D	UBN1_ENST00000545171.1_Missense_Mutation_p.G810D|UBN1_ENST00000262376.6_Missense_Mutation_p.G810D|UBN1_ENST00000590769.1_Missense_Mutation_p.G810D	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	810					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TTTCATGCCGGCACTCAGCAG	0.572													False	0	False	16:4924840	0	A	4924840	G	A	4924840	3	1	68	1	0	0	0	0	1	0	0	0	16976	1203	42	2	2483	2	UBN1	16	4924840	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	2577031	4924840	85429913	55	5779											
MYH4	4622	broad.mit.edu	37	chr17	10348217	10348217	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactttcaagctctctcacCtggaagggaacaaagacgtt	8	11	4	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:10348217C>A	ENST00000255381.2	-	38	5577		c.e38-1		RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCTCTCACCTGGAAGGGAA	0.483													False	0	False	17:10348217	0	A	10348217	C	A	10348217	5	1	68	1	0	0	0	0	0	0	1	0	10104	695	24	3	365	3	MYH4	17	10348217	Splice_Site	SNP	C	TCGA-HZ-8317-01A-11D-2396-08		10348217	70846993	56	5780											
KIAA0100	9703	broad.mit.edu	37	chr17	26961608	26961608	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaatccctcagggggaaaAgggctgcctggatcaagctc	12	11	3	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493													False	0	True	17:26961608	0	G	26961608	A	G	26961608	2	3	68	1	0	0	0	0	0	0	0	1	8204	59	3	4		4	KIAA0100	17	26961608	Silent	SNP	A	TCGA-HZ-8317-01A-11D-2396-08	16613391	26961608	54233602	57	5781											
SLFN5	162394	broad.mit.edu	37	chr17	33591445	33591445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcttcagcaagtgggatgCggggtgcaagggctattcta	14	8	3	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:33591445C>T	ENST00000299977.4	+	4	1530	c.1382C>T	c.(1381-1383)gCg>gTg	p.A461V	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	461					cell differentiation		ATP binding	p.A461V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AAGTGGGATGCGGGGTGCAAG	0.488													False	0	True	17:33591445	0	T	33591445	C	T	33591445	3	4	68	1	0	0	0	0	1	0	0	0	14817	768	27	1	1392	1	SLFN5	17	33591445	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	6629837	33591445	47603765	58	5782											
GHDC	84514	broad.mit.edu	37	chr17	40344270	40344270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactgacctcccgaggcaGcataagcaggagagaagaag	12	12	0	3			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:40344270G>A	ENST00000301671.8	-	4	1319	c.878C>T	c.(877-879)gCt>gTt	p.A293V	GHDC_ENST00000414034.3_Missense_Mutation_p.A293V|GHDC_ENST00000587427.1_Missense_Mutation_p.A293V|GHDC_ENST00000593209.1_Missense_Mutation_p.A293V|GHDC_ENST00000436923.2_Missense_Mutation_p.A293V|GHDC_ENST00000428494.2_Missense_Mutation_p.A254V			Q8N2G8	GHDC_HUMAN	GH3 domain containing	293						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCCCGAGGCAGCATAAGCAGG	0.607													False	0	False	17:40344270	0	A	40344270	G	A	40344270	3	1	68	1	0	0	0	0	1	0	0	0	6414	971	34	2	827	2	GHDC	17	40344270	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	6752825	40344270	40850940	59	5783											
TNRC6C	57690	broad.mit.edu	37	chr17	76046827	76046827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgcttggagtggggccGcaaatcaggaggacaagtca	15	9	2	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:76046827G>A	ENST00000335749.4	+	3	2253	c.1684G>A	c.(1684-1686)Gca>Aca	p.A562T	TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	562	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGTGGGGCCGCAAATCAGGA	0.582													False	0	False	17:76046827	0	A	76046827	G	A	76046827	3	1	68	1	0	0	0	0	1	0	0	0	16424	1087	38	1	1686	1	TNRC6C	17	76046827	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	35702557	76046827	5148383	60	5784											
SMAD4	4089	broad.mit.edu	37	chr18	48593394	48593394	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcttcctaaggttgcAcataggcaaaggtgtgcagt	10	7	1	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr18:48593394A>T	ENST00000342988.3	+	10	1683	c.1145A>T	c.(1144-1146)cAc>cTc	p.H382L	SMAD4_ENST00000398417.2_Missense_Mutation_p.H382L|SMAD4_ENST00000588745.1_Missense_Mutation_p.H286L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	382	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CTAAGGTTGCACATAGGCAAA	0.338													False	0	False	18:48593394	0	T	48593394	A	T	48593394	3	4	68	1	0	0	0	0	1	0	0	0	14840	159	6	5	1179	5	SMAD4	18	48593394	Missense_Mutation	SNP	A	TCGA-HZ-8317-01A-11D-2396-08		48593394	29483854	61	5785											
LYPD3	27076	broad.mit.edu	37	chr19	43965886	43965886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaggtcagagttacagcGggacccctggcaacaggagc	16	11	1	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:43965886G>A	ENST00000244333.3	-	5	746	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	220	UPAR/Ly6 2.					anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GAGTTACAGCGGGACCCCTGG	0.622													False	0	True	19:43965886	0	A	43965886	G	A	43965886	3	1	68	1	0	0	0	0	1	0	0	0	9174	1116	39	1	386	1	LYPD3	19	43965886	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08		43965886	15163097	62	5786											
ZNF285	26974	broad.mit.edu	37	chr19	44892085	44892085	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgcctgcccactcttcacTgagggaaacatcttctaaat	6	12	4	1	rs79240579	by1000genomes	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:44892085T>A	ENST00000330997.4	-	4	386	c.322A>T	c.(322-324)Agt>Tgt	p.S108C	ZNF285_ENST00000591679.1_Missense_Mutation_p.S115C|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S108C	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CACTCTTCACTGAGGGAAACA	0.393													False	0	False	19:44892085	0	A	44892085	T	A	44892085	3	1	68	1	0	0	0	0	1	0	0	0	17905	1580	55	5	1454	5	ZNF285	19	44892085	Missense_Mutation	SNP	T	TCGA-HZ-8317-01A-11D-2396-08	926199	44892085	14236898	63	5787											
ZNF473	25888	broad.mit.edu	37	chr19	50548290	50548290	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctcctactccgaccacaGccagcaggattctgttcagg	8	14	3	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:50548290G>T	ENST00000595661.1	+	6	1085	c.590G>T	c.(589-591)aGc>aTc	p.S197I	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.S197I|ZNF473_ENST00000270617.3_Missense_Mutation_p.S197I|ZNF473_ENST00000445728.3_Missense_Mutation_p.S185I			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	197					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCCGACCACAGCCAGCAGGAT	0.468													False	0	True	19:50548290	0	T	50548290	G	T	50548290	3	4	68	1	0	0	0	0	1	0	0	0	18014	971	34	3	604	3	ZNF473	19	50548290	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	5656205	50548290	8580693	64	5788											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52149092	52149092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagctccttggcgtttcaCctgacaggtgaggttggtgc	14	10	1	3	rs111981406	by1000genomes	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:52149092C>T	ENST00000360844.6	-	3	684	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	215	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.V215M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGCGTTTCACCTGACAGGTG	0.647													False	0	False	19:52149092	0	T	52149092	C	T	52149092	3	4	68	1	0	0	0	0	1	0	0	0	14390	507	18	2	567	2	SIGLEC14	19	52149092	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	1600802	52149092	6979891	65	5789											
LILRB2	0	broad.mit.edu	37	chr19	54782828	54782828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccggccagggagctggCgaaggtcacgttccccctcc	14	16	1	0			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:54782828C>T	ENST00000391748.1	-	6	921	c.794G>A	c.(793-795)cGc>cAc	p.R265H	LILRB2_ENST00000434421.1_Missense_Mutation_p.R149H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R265H|LILRB2_ENST00000391749.4_Missense_Mutation_p.R265H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R265H	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	265	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGAGCTGGCGAAGGTCACG	0.637													False	0	False	19:54782828	0	T	54782828	C	T	54782828	3	4	68	1	0	0	0	0	1	0	0	0	8843	768	27	1	1038	1	LILRB2	19	54782828	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	2633736	54782828	4346155	66	5790											
USP29	0	broad.mit.edu	37	chr19	57642253	57642253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaacagctccagcagtGtattgaggagagcatcatag	13	8	1	3			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:57642253G>A	ENST00000254181.4	+	4	2664	c.2210G>A	c.(2209-2211)tGt>tAt	p.C737Y	USP29_ENST00000598197.1_Missense_Mutation_p.C737Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	737					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCCAGCAGTGTATTGAGGAG	0.458													False	0	False	19:57642253	0	A	57642253	G	A	57642253	3	1	68	1	0	0	0	0	1	0	0	0	17143	1377	48	2	2212	2	USP29	19	57642253	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	2859425	57642253	1486730	67	5791											
DNMT3B	1789	broad.mit.edu	37	chr20	31385055	31385055	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tatcagtcttactgcactgtGtgctgcgagggccgagagct	13	10	2	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:31385055G>C	ENST00000328111.2	+	14	1761	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V	DNMT3B_ENST00000353855.2_Silent_p.V460V|DNMT3B_ENST00000348286.2_Silent_p.V460V|DNMT3B_ENST00000344505.4_Silent_p.V460V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Silent_p.V418V|DNMT3B_ENST00000201963.3_Silent_p.V472V|DNMT3B_ENST00000456297.2_Silent_p.V384V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	480	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTGCACTGTGTGCTGCGAGG	0.582													False	0	True	20:31385055	0	C	31385055	G	C	31385055	2	2	68	1	0	0	0	0	0	0	0	1	4707	1364	48	5		5	DNMT3B	20	31385055	Silent	SNP	G	TCGA-HZ-8317-01A-11D-2396-08		31385055	31640465	68	5792											
ZNF335	63925	broad.mit.edu	37	chr20	44578999	44578999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtggaacttgaggtgccCgttacggttgaaactgaggg	16	6	0	3			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:44578999C>T	ENST00000322927.2	-	22	3446	c.3346G>A	c.(3346-3348)Ggg>Agg	p.G1116R	ZNF335_ENST00000426788.1_Missense_Mutation_p.G961R	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G1116W(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TTGAGGTGCCCGTTACGGTTG	0.612													False	0	True	20:44578999	0	T	44578999	C	T	44578999	3	4	68	1	0	0	0	0	1	0	0	0	17935	652	23	1	710	1	ZNF335	20	44578999	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	13193944	44578999	18446521	69	5793											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-													atgcagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55													False	1	True	20:46279833	0	-	46279834	GC	-	46279833	7	5	68	1	0	1	0	1	0	0	0	0	10298	962	34	0	3859	0	NCOA3	20	46279833	Frame_Shift_Del	DEL	GC	TCGA-HZ-8317-01A-11D-2396-08	1700834	46279833	16745687	70	5794											
GNAS	2778	broad.mit.edu	37	chr20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggacctgcttcgctgccGtgtcctgacttctggaatct	10	13	3	1	rs121913495		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:57484421G>A	ENST00000371100.4	+	8	3083	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			False	0	False	20:57484421	0	A	57484421	G	A	57484421	3	1	68	1	0	0	0	0	1	0	0	0	6555	1145	40	1	3449	1	GNAS	20	57484421	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	11204588	57484421	5541099	71	5795											
CRYBB3	1417	broad.mit.edu	37	chr22	25597368	25597368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgttcctggggagatggCggaacagcacggagcacccg	17	10	0	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:25597368C>T	ENST00000215855.2	+	2	85	c.5C>T	c.(4-6)gCg>gTg	p.A2V	CRYBB3_ENST00000404334.1_Missense_Mutation_p.A2V	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	2	N-terminal arm.				visual perception		protein binding|structural constituent of eye lens	p.A2V(1)		large_intestine(2)|lung(2)|prostate(1)	5						GGGGAGATGGCGGAACAGCAC	0.597													False	0	False	22:25597368	0	T	25597368	C	T	25597368	3	4	68	1	0	0	0	0	1	0	0	0	3935	768	27	1	7	1	CRYBB3	22	25597368	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08		25597368	25707198	72	5796											
MYH9	4627	broad.mit.edu	37	chr22	36702080	36702080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggtccagcacgagatgCgggtccagcttgccggcctg	15	13	0	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:36702080C>T	ENST00000216181.5	-	17	2285	c.2055G>A	c.(2053-2055)ccG>ccA	p.P685P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	685	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCACGAGATGCGGGTCCAGCT	0.592			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				False	0	True	22:36702080	0	T	36702080	C	T	36702080	2	4	68	1	0	0	0	0	0	0	0	1	10109	755	27	1		1	MYH9	22	36702080	Silent	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	11104712	36702080	14602486	73	5797											
MOV10L1	54456	broad.mit.edu	37	chr22	50591565	50591565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggaactcgaggtctgtgCggaccccacagtggtgacct	14	12	1	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:50591565C>T	ENST00000262794.5	+	22	3067	c.2984C>T	c.(2983-2985)gCg>gTg	p.A995V	MOV10L1_ENST00000354853.2_Missense_Mutation_p.A38V|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A975V|MOV10L1_ENST00000395843.1_Missense_Mutation_p.A38V|MOV10L1_ENST00000395852.1_Missense_Mutation_p.A122V|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A995V|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A995V	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	995					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAGGTCTGTGCGGACCCCACA	0.577													False	0	False	22:50591565	0	T	50591565	C	T	50591565	3	4	68	1	0	0	0	0	1	0	0	0	9786	768	27	1	3123	1	MOV10L1	22	50591565	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	13889485	50591565	713001	74	5798											
FTHL17	53940	broad.mit.edu	37	chrX	31089614	31089614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcttgcgcaggttgctcaCgtagccacccagctctttga	9	13	3	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:31089614C>T	ENST00000359202.3	-	1	556	c.457G>A	c.(457-459)Gtg>Atg	p.V153M		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	153	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGGTTGCTCACGTAGCCACCC	0.617													False	0	False	X:31089614	0	T	31089614	C	T	31089614	3	4	68	1	0	0	0	0	1	0	0	0	6125	536	19	1	98	1	FTHL17	23	31089614	Missense_Mutation	SNP	C	TCGA-HZ-8317-01A-11D-2396-08		31089614	124180946	75	5799											
TCEAL3	85012	broad.mit.edu	37	chrX	102864204	102864204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccaggaaaagcagggcaGgtccgaaggtgagggcaagc	17	8	0	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:102864204G>A	ENST00000372628.1	+	3	570	c.212G>A	c.(211-213)aGg>aAg	p.R71K	TCEAL3_ENST00000243286.3_Missense_Mutation_p.R71K|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.R71K			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	71	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R71K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAGCAGGGCAGGTCCGAAGGT	0.622													False	0	True	X:102864204	0	A	102864204	G	A	102864204	3	1	68	1	0	0	0	0	1	0	0	0	15754	1000	35	2	214	2	TCEAL3	23	102864204	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	71774590	102864204	52406356	76	5800											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	18	6	0	1			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:112058796C>T	ENST00000371959.3	-	2	1181	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582													False	0	True	X:112058796	0	T	112058796	C	T	112058796	2	4	68	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	9194592	112058796	43211764	77	5801											
PLS3	5358	broad.mit.edu	37	chrX	114871228	114871228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcttctgcttagatggGcaaactttcatttggaaaac	9	7	2	2			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:114871228G>A	ENST00000420625.2	+	8	963	c.829G>A	c.(829-831)Gca>Aca	p.A277T	PLS3_ENST00000355899.3_Missense_Mutation_p.A277T|PLS3_ENST00000539310.1_Missense_Mutation_p.A232T|PLS3_ENST00000289290.3_Missense_Mutation_p.A232T|PLS3_ENST00000537301.1_Missense_Mutation_p.A255T	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	277	Actin-binding 1.|CH 2.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GCTTAGATGGGCAAACTTTCA	0.388													False	0	True	X:114871228	0	A	114871228	G	A	114871228	3	1	68	1	0	0	0	0	1	0	0	0	12177	1203	42	2	855	2	PLS3	23	114871228	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	2812432	114871228	40399332	78	5802											
NSDHL	50814	broad.mit.edu	37	chrX	152031181	152031181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtgtcatctttgagggCgtcgatatcaagaatggaac	12	8	3	2			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:152031181C>T	ENST00000370274.3	+	5	650	c.456C>T	c.(454-456)ggC>ggT	p.G152G	NSDHL_ENST00000440023.1_Silent_p.G152G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	152					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	p.G152G(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TCTTTGAGGGCGTCGATATCA	0.413													False	0	True	X:152031181	0	T	152031181	C	T	152031181	2	4	68	1	0	0	0	0	0	0	0	1	10738	755	27	1		1	NSDHL	23	152031181	Silent	SNP	C	TCGA-HZ-8317-01A-11D-2396-08	37159953	152031181	3239379	79	5803											
PLXNB3	5365	broad.mit.edu	37	chrX	153036952	153036952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctccctagtgatcctgtacGactgcgccatgggccacccg	10	17	0	1	rs141109198		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:153036952G>A	ENST00000538966.1	+	15	2699	c.2428G>A	c.(2428-2430)Gac>Aac	p.D810N	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.D397N|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D440N|PLXNB3_ENST00000361971.5_Missense_Mutation_p.D787N	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	787					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GATCCTGTACGACTGCGCCAT	0.672													False	0	False	X:153036952	0	A	153036952	G	A	153036952	3	1	68	1	0	0	0	0	1	0	0	0	12194	1058	37	1	2527	1	PLXNB3	23	153036952	Missense_Mutation	SNP	G	TCGA-HZ-8317-01A-11D-2396-08	1005771	153036952	2233608	80	5804											
ACTRT2	140625	broad.mit.edu	37	chr1	2938408	2938410	+	In_Frame_Del	DEL	AGA	AGA	-													tccctcagcagaggccaaccAgaagaagtactttgtggggg					rs4013154		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr1:2938408_2938410delAGA	ENST00000378404.2	+	1	363_365	c.158_160delAGA	c.(157-162)cagaag>cag	p.K55del		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	55				Missing (in Ref. 5; AAH29499).		cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GAGGCCAACCAGAAGAAGTACTT	0.611													False	2	False	1:2938408	0	-	2938410	AGA	-	2938408	7	5	69	1	0	1	0	1	0	0	0	0	219	188	7	0	160	0	ACTRT2	1	2938408	In_Frame_Del	DEL	AGA	TCGA-HZ-8519-01A-11D-2396-08		2938408	246312213	1	5805											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18023723	18023723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggccctgcgcccgcgacGcccaccgcaaggagatttgc	13	18	0	1			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr1:18023723G>A	ENST00000361221.3	+	29	3847	c.3688G>A	c.(3688-3690)Gcc>Acc	p.A1230T	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.A933T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.A1191T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.A1191T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.A1003T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1230					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGCCCGCGACGCCCACCGCAA	0.677													False	0	True	1:18023723	0	A	18023723	G	A	18023723	3	1	69	1	0	0	0	0	1	0	0	0	897	1087	38	1	3798	1	ARHGEF10L	1	18023723	Missense_Mutation	SNP	G	TCGA-HZ-8519-01A-11D-2396-08	15085315	18023723	231226898	2	5806											
C1orf172	126695	broad.mit.edu	37	chr1	27277240	27277241	+	Frame_Shift_Del	DEL	TG	TG	-													gtctcctgggagatctgcacTgtcagctctagggagggaac							TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr1:27277240_27277241delTG	ENST00000320567.5	-	3	1134_1135	c.1046_1047delCA	c.(1045-1047)acafs	p.T349fs		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	349										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AGATCTGCACTGTCAGCTCTAG	0.569													False	1	False	1:27277240	0	-	27277241	TG	-	27277240	7	5	69	1	0	1	0	1	0	0	0	0	2028	1567	55	0	157	0	C1orf172	1	27277240	Frame_Shift_Del	DEL	TG	TCGA-HZ-8519-01A-11D-2396-08	9253517	27277240	221973381	3	5807											
ADAMTS4	9507	broad.mit.edu	37	chr1	161166457	161166457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtctgggcagcactggGccccacttggggcccctcct	14	16	1	0			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr1:161166457G>A	ENST00000367996.5	-	2	1275	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.P283S	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4		Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCAGCACTGGGCCCCACTTGG	0.632													False	0	True	1:161166457	0	A	161166457	G	A	161166457	3	1	69	1	0	0	0	0	1	0	0	0	268	1203	42	2	1698	2	ADAMTS4	1	161166457	Missense_Mutation	SNP	G	TCGA-HZ-8519-01A-11D-2396-08	133889217	161166457	88084164	4	5808											
ANKRD36	375248	broad.mit.edu	37	chr2	97779488	97779488	+	Frame_Shift_Del	DEL	C	C	-													ccgacgattatggaagacggCaagcgggagaggtggcccac							TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr2:97779488delC	ENST00000461153.2	+	1	256	c.12delC	c.(10-12)ggcfs	p.G4fs	ANKRD36_ENST00000420699.2_Frame_Shift_Del_p.G4fs			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	4										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TGGAAGACGGCAAGCGGGAGA	0.562													False	1	False	2:97779488	0	-	97779488	C	-	97779488	7	5	69	1	0	1	0	1	0	0	0	0	665	697	25	0	14	0	ANKRD36	2	97779488	Frame_Shift_Del	DEL	C	TCGA-HZ-8519-01A-11D-2396-08		97779488	145419885	5	5809											
SIDT1	54847	broad.mit.edu	37	chr3	113286403	113286403	+	Frame_Shift_Del	DEL	A	A	-													tcagataccagaggagctacAactatcaagaagtgagccgc							TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr3:113286403delA	ENST00000264852.4	+	3	1087	c.361delA	c.(361-363)aacfs	p.N121fs	SIDT1_ENST00000393830.3_Frame_Shift_Del_p.N121fs	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	121						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GAGGAGCTACAACTATCAAGA	0.468													False	2	False	3:113286403	0	-	113286403	A	-	113286403	7	5	69	1	0	1	0	1	0	0	0	0	14383	130	5	0	371	0	SIDT1	3	113286403	Frame_Shift_Del	DEL	A	TCGA-HZ-8519-01A-11D-2396-08		113286403	84736027	6	5810											
ATR	545	broad.mit.edu	37	chr3	142241646	142241648	+	In_Frame_Del	DEL	AAT	AAT	-													aagctcttgttagctccatcAataatccataggcaaagctt							TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	AAT	AAT	-	-	AAT	AAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr3:142241646_142241648delAAT	ENST00000350721.4	-	23	4309_4311	c.4188_4190delATT	c.(4186-4191)ttattg>ttg	p.1396_1397LL>L	ATR_ENST00000383101.3_In_Frame_Del_p.1332_1333LL>L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1396					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TAGCTCCATCAATAATCCATAGG	0.379								Other conserved DNA damage response genes					False	2	False	3:142241646	0	-	142241648	AAT	-	142241646	7	5	69	1	0	1	0	1	0	0	0	0	1208	131	5	0	3844	0	ATR	3	142241646	In_Frame_Del	DEL	AAT	TCGA-HZ-8519-01A-11D-2396-08	28955243	142241646	55780784	7	5811											
OTOP1	133060	broad.mit.edu	37	chr4	4198949	4198954	+	In_Frame_Del	DEL	CGTTGC	CGTTGC	-													cctcaggacttttctcttggCgttgccctgtaagaaacggg					rs112623841	byFrequency	TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	CGTTGC	CGTTGC	-	-	CGTTGC	CGTTGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr4:4198949_4198954delCGTTGC	ENST00000296358.4	-	5	1631_1636	c.1607_1612delGCAACG	c.(1606-1614)ggcaacgcc>gcc	p.GN536del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	536					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTTCTCTTGGCGTTGCCCTGTAAGAA	0.476													False	1	False	4:4198949	0	-	4198954	CGTTGC	-	4198949	7	5	69	1	0	1	0	1	0	0	0	0	11373	768	27	0	234	0	OTOP1	4	4198949	In_Frame_Del	DEL	CGTTGC	TCGA-HZ-8519-01A-11D-2396-08		4198949	186955327	8	5812											
AMBN	258	broad.mit.edu	37	chr4	71468346	71468348	+	In_Frame_Del	DEL	AGG	AGG	-													ttatctgtgatatagctcccAggagtagattttgctgatcc							TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr4:71468346_71468348delAGG	ENST00000322937.6	+	7	640_642	c.537_539delAGG	c.(535-540)ccagga>cca	p.G180del	AMBN_ENST00000449493.2_In_Frame_Del_p.G165del	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	180				G -> R (in Ref. 3; AAG35772 and 4; AAG27036).	bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TATAGCTCCCAGGAGTAGATTTT	0.261													False	1	False	4:71468346	0	-	71468348	AGG	-	71468346	7	5	69	1	0	1	0	1	0	0	0	0	563	175	7	0	563	0	AMBN	4	71468346	In_Frame_Del	DEL	AGG	TCGA-HZ-8519-01A-11D-2396-08	67269397	71468346	119685930	9	5813											
C1QTNF3	114899	broad.mit.edu	37	chr5	34042955	34042955	+	Frame_Shift_Del	DEL	T	T	-													cagaatgtggtgatctgggcTaggtcatctacctcggggtg							TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr5:34042955delT	ENST00000382065.3	-	1	982	c.276delA	c.(274-276)ctafs	p.L92fs	C1QTNF3_ENST00000231338.7_Intron	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	0	Collagen-like.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TGATCTGGGCTAGGTCATCTA	0.453													False	1	False	5:34042955	0	-	34042955	T	-	34042955	7	5	69	1	0	1	0	1	0	0	0	0	1979	1509	53	0	707	0	C1QTNF3	5	34042955	Frame_Shift_Del	DEL	T	TCGA-HZ-8519-01A-11D-2396-08		34042955	146872305	10	5814											
MAST4	375449	broad.mit.edu	37	chr5	66461050	66461052	+	In_Frame_Del	DEL	CTC	CTC	-													ccagtgacaactccaaaaatCtcctctctgtgggaaggacc							TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr5:66461050_66461052delCTC	ENST00000403625.2	+	29	6338_6340	c.6043_6045delCTC	c.(6043-6045)ctcdel	p.L2016del	MAST4_ENST00000404260.3_In_Frame_Del_p.L2019del|MAST4_ENST00000403666.1_In_Frame_Del_p.L1827del|MAST4_ENST00000261569.7_In_Frame_Del_p.L1822del|MAST4_ENST00000405643.1_In_Frame_Del_p.L1837del	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2019						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTCCAAAAATCTCCTCTCTGTGG	0.552													False	2	False	5:66461050	0	-	66461052	CTC	-	66461050	7	5	69	1	0	1	0	1	0	0	0	0	9394	913	32	0	6287	0	MAST4	5	66461050	In_Frame_Del	DEL	CTC	TCGA-HZ-8519-01A-11D-2396-08	32418095	66461050	114454210	11	5815											
STK10	6793	broad.mit.edu	37	chr5	171583751	171583760	+	Frame_Shift_Del	DEL	GACTTTGGCC	GACTTTGGCC	-													tcctcactcttggtttcaatGactttggccgcagccaaagc							TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	GACTTTGGCC	GACTTTGGCC	-	-	GACTTTGGCC	GACTTTGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr5:171583751_171583760delGACTTTGGCC	ENST00000176763.5	-	2	532_541	c.189_198delGGCCAAAGTC	c.(187-198)gcggccaaagtcfs	p.AAKV63fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	63	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTTTCAATGACTTTGGCCGCAGCCAAAG	0.552													False	1	True	5:171583751	0	-	171583760	GACTTTGGCC	-	171583751	7	5	69	1	0	1	0	1	0	0	0	0	15368	1277	45	0	2780	0	STK10	5	171583751	Frame_Shift_Del	DEL	GACTTTGGCC	TCGA-HZ-8519-01A-11D-2396-08	105122701	171583751	9331509	12	5816											
DNAH8	1769	broad.mit.edu	37	chr6	38783392	38783398	+	Frame_Shift_Del	DEL	TGACCCA	TGACCCA	-													cagccccaccactactgacgTgacccatcaaaacacaggaa							TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	TGACCCA	TGACCCA	-	-	TGACCCA	TGACCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr6:38783392_38783398delTGACCCA	ENST00000359357.3	+	24	3085_3091	c.2831_2837delTGACCCA	c.(2830-2838)gtgacccatfs	p.VTH944fs	DNAH8_ENST00000441566.1_Frame_Shift_Del_p.VTH944fs|DNAH8_ENST00000449981.2_Frame_Shift_Del_p.VTH1161fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTACTGACGTGACCCATCAAAACACA	0.44													False	1	True	6:38783392	0	-	38783398	TGACCCA	-	38783392	7	5	69	1	0	1	0	1	0	0	0	0	4637	1696	59	0	2917	0	DNAH8	6	38783392	Frame_Shift_Del	DEL	TGACCCA	TCGA-HZ-8519-01A-11D-2396-08		38783392	132331675	13	5817											
SLC22A1	6580	broad.mit.edu	37	chr6	160560881	160560883	+	In_Frame_Del	DEL	ATG	ATG	-													cgggggcagcctgcctcgtcAtgatttttatctcacctggt					rs142448543	byFrequency	TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	ATG	ATG	-	-	ATG	ATG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr6:160560881_160560883delATG	ENST00000324965.4	+	7	1258_1260	c.1258_1260delATG	c.(1258-1260)atgdel	p.M420del	SLC22A1_ENST00000457470.2_In_Frame_Del_p.M420del|SLC22A1_ENST00000366963.4_In_Frame_Del_p.M420del			O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	420			Missing (no changes in the MPP uptake. No changes in the MPP uptake; when associated with V-408).			basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CTGCCTCGTCATGATTTTTATCT	0.517													False	1	False	6:160560881	0	-	160560883	ATG	-	160560881	7	5	69	1	0	1	0	1	0	0	0	0	14521	217	8	0	1284	0	SLC22A1	6	160560881	In_Frame_Del	DEL	ATG	TCGA-HZ-8519-01A-11D-2396-08	121777489	160560881	10554186	14	5818											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	69	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-HZ-8519-01A-11D-2396-08		44153778	114984885	15	5819											
ZMIZ2	83637	broad.mit.edu	37	chr7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-													aagcggcagctgctgcagctGtggctgctgcggcagccact					rs142075074	by1000genomes	TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678													False	1	False	7:44797065	0	-	44797109	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	44797065	7	5	69	1	0	1	0	1	0	0	0	0	17780	1377	48	0	471	0	ZMIZ2	7	44797065	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	TCGA-HZ-8519-01A-11D-2396-08	643287	44797065	114341598	16	5820											
COBL	23242	broad.mit.edu	37	chr7	51098568	51098570	+	In_Frame_Del	DEL	TCT	TCT	-													actctccagcaattaataggTcttcttcatcatttgaggct					rs74996531		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr7:51098568_51098570delTCT	ENST00000265136.7	-	9	1608_1610	c.1443_1445delAGA	c.(1441-1446)gaagac>gac	p.E481del	COBL_ENST00000395542.2_In_Frame_Del_p.E563del	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	481				Missing (in Ref. 5; AAH29275).						NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AATTAATAGGTCTTCTTCATCAT	0.409													False	2	False	7:51098568	0	-	51098570	TCT	-	51098568	7	5	69	1	0	1	0	1	0	0	0	0	3676	1667	58	0	2360	0	COBL	7	51098568	In_Frame_Del	DEL	TCT	TCGA-HZ-8519-01A-11D-2396-08	6301503	51098568	108040095	17	5821											
MUC5B	727897	broad.mit.edu	37	chr11	1271219	1271221	+	In_Frame_Del	DEL	CCA	CCA	-													cacagtgctgaccacgaaggCcaccacgacaagggccacca					rs61430934		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr11:1271219_1271221delCCA	ENST00000529681.1	+	31	13167_13169	c.13109_13111delCCA	c.(13108-13113)gccacc>gcc	p.T4373del	MUC5B_ENST00000447027.1_In_Frame_Del_p.T4376del	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4373	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			Missing (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACGAAGGCCACCACGACAAG	0.635													False	2	False	11:1271219	0	-	1271221	CCA	-	1271219	7	5	69	1	0	1	0	1	0	0	0	0	10046	739	26	0	13240	0	MUC5B	11	1271219	In_Frame_Del	DEL	CCA	TCGA-HZ-8519-01A-11D-2396-08		1271219	133735297	18	5822											
OR52D1	390066	broad.mit.edu	37	chr11	5510540	5510541	+	Frame_Shift_Ins	INS	-	-	GGCT													cactgtcaatattgtctatgINSggctaactgtggctctgctg					rs72233167	by1000genomes	TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr11:5510540_5510541insGGCT	ENST00000322641.5	+	1	626_627	c.604_605insGGCT	c.(604-606)gggfs	p.-203fs	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTGTCTATGGGCTAACTGTG	0.49													False	1	True	11:5510540	0	GGCT	5510541	-	GGCT	5510540	7	5	69	1	0	1	1	0	0	0	0	0	11182	1348	47	0	606	0	OR52D1	11	5510540	Frame_Shift_Ins	INS	-	TCGA-HZ-8519-01A-11D-2396-08	4239321	5510540	129495976	19	5823											
MTMR2	8898	broad.mit.edu	37	chr11	95581065	95581066	+	Splice_Site	INS	-	-	TGTTGGCAACAGCATTAACACTTGGCCG													ataacctccaccctttgcctINSggaaaaaagcacacatcatg							TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr11:95581065_95581066insTGTTGGCAACAGCATTAACACTTGGCCG	ENST00000393223.3	-	12	1440		c.e12-2		MTMR2_ENST00000352297.7_Splice_Site|MTMR2_ENST00000409459.1_Splice_Site|MTMR2_ENST00000346299.5_Splice_Site	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2							nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACCCTTTGCCTGGAAAAAAGCA	0.342													False	0	False	11:95581065	0	TGTTGGCAACAGCATTAACACTTGGCCG	95581066	-	TGTTGGCAACAGCATTAACACTTGGCCG	95581065	8	5	69	1	0	1	1	0	0	0	1	0	10011	1594	55	0	963	0	MTMR2	11	95581065	Splice_Site	INS	-	TCGA-HZ-8519-01A-11D-2396-08	90070525	95581065	39425451	20	5824											
FAM118B	79607	broad.mit.edu	37	chr11	126131333	126131335	+	In_Frame_Del	DEL	AGA	AGA	-													tatttagcagggatggtgagAgaaggtcagctaaatggctc					rs138767340		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr11:126131333_126131335delAGA	ENST00000533050.1	+	8	1489_1491	c.996_998delAGA	c.(994-999)agagaa>aga	p.E333del	FAM118B_ENST00000360194.4_In_Frame_Del_p.E332del	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	333										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		GGATGGTGAGAGAAGGTCAGCTA	0.379													False	1	True	11:126131333	0	-	126131335	AGA	-	126131333	7	5	69	1	0	1	0	1	0	0	0	0	5448	301	11	0	1018	0	FAM118B	11	126131333	In_Frame_Del	DEL	AGA	TCGA-HZ-8519-01A-11D-2396-08	30550268	126131333	8875183	21	5825											
GLB1L3	112937	broad.mit.edu	37	chr11	134182352	134182352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccatctgctccggaggccGcctccgtgcccacgctcatg	11	18	2	0			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr11:134182352G>A	ENST00000431683.2	+	14	1397	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	466					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCGGAGGCCGCCTCCGTGCC	0.607													False	0	False	11:134182352	0	A	134182352	G	A	134182352	3	1	69	1	0	0	0	0	1	0	0	0	6475	1087	38	1	1451	1	GLB1L3	11	134182352	Missense_Mutation	SNP	G	TCGA-HZ-8519-01A-11D-2396-08	8051019	134182352	824164	22	5826											
TBC1D4	9882	broad.mit.edu	37	chr13	75884223	75884223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagacaggaatacaaccagCggttcctcctccatggttgg	10	13	0	1			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr13:75884223C>T	ENST00000377636.3	-	14	2794	c.2448G>A	c.(2446-2448)ccG>ccA	p.P816P	TBC1D4_ENST00000425511.1_Silent_p.P33P|TBC1D4_ENST00000377625.2_Silent_p.P753P|TBC1D4_ENST00000431480.2_Silent_p.P808P	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	816						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATACAACCAGCGGTTCCTCCT	0.493													False	0	False	13:75884223	0	T	75884223	C	T	75884223	2	4	69	1	0	0	0	0	0	0	0	1	15704	755	27	1		1	TBC1D4	13	75884223	Silent	SNP	C	TCGA-HZ-8519-01A-11D-2396-08		75884223	39285655	23	5827											
GPHB5	122876	broad.mit.edu	37	chr14	63784404	63784405	+	RNA	INS	-	-	G													gcaggcatccgtggtgatccINSgaagcccctgcagcctggct							TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr14:63784404_63784405insG	ENST00000539258.1	-	0	215_216							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity	p.R53W(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CGTGGTGATCCGAAGCCCCTGC	0.599													False	1	False	14:63784404	0	G	63784405	-	G	63784404	6	5	69	0	1	1	1	0	0	0	0	0	6655	661	23	0		0	GPHB5	14	63784404	RNA	INS	-	TCGA-HZ-8519-01A-11D-2396-08		63784404	43565136	24	5828											
GRIN2A	0	broad.mit.edu	37	chr16	10274206	10274206	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgccgccgcgctcggcgcCggaccgcgccagaccagaag	14	19	0	2			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr16:10274206C>T	ENST00000396573.2	-	3	372	c.63G>A	c.(61-63)ccG>ccA	p.P21P	GRIN2A_ENST00000562109.1_Silent_p.P21P|GRIN2A_ENST00000330684.3_Silent_p.P21P|GRIN2A_ENST00000396575.2_Silent_p.P21P|GRIN2A_ENST00000404927.2_Silent_p.P21P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	21					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCTCGGCGCCGGACCGCGCC	0.647													False	0	False	16:10274206	0	T	10274206	C	T	10274206	2	4	69	1	0	0	0	0	0	0	0	1	6826	639	23	1		1	GRIN2A	16	10274206	Silent	SNP	C	TCGA-HZ-8519-01A-11D-2396-08		10274206	80080547	25	5829											
OGFOD1	55239	broad.mit.edu	37	chr16	56509440	56509441	+	Frame_Shift_Ins	INS	-	-	GTTTTTTT													tgggagccagaatatggcggINSttttacttcttacattgcca					rs147207036	by1000genomes	TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr16:56509440_56509441insGTTTTTTT	ENST00000566157.1	+	12	1553_1554	c.1430_1431insGTTTTTTT	c.(1429-1434)ggttttfs	p.-478fs	OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.-435fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1								iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GAATATGGCGGTTTTACTTCTT	0.366													False	0	True	16:56509440	0	GTTTTTTT	56509441	-	GTTTTTTT	56509440	7	5	69	1	0	1	1	0	0	0	0	0	10909	1261	44	0	1476	0	OGFOD1	16	56509440	Frame_Shift_Ins	INS	-	TCGA-HZ-8519-01A-11D-2396-08	46235234	56509440	33845313	26	5830											
KRT24	192666	broad.mit.edu	37	chr17	38858135	38858135	+	Frame_Shift_Del	DEL	A	A	-													tcatcagcagccaatctggcAttgtcaatgtgcaaaatgat					rs11309872		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr17:38858135delA	ENST00000264651.2	-	2	722	c.666delT	c.(664-666)aatfs	p.N222fs		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	222	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCAATCTGGCATTGTCAATGT	0.333													False	1	False	17:38858135	0	-	38858135	A	-	38858135	7	5	69	1	0	1	0	1	0	0	0	0	8511	214	8	0	939	0	KRT24	17	38858135	Frame_Shift_Del	DEL	A	TCGA-HZ-8519-01A-11D-2396-08		38858135	42337075	27	5831											
PCYT2	5833	broad.mit.edu	37	chr17	79866486	79866486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcataggtgtcccggCcatctacagtcagggtgatg	11	12	3	1			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr17:79866486C>T	ENST00000538936.2	-	4	473	c.365G>A	c.(364-366)gGc>gAc	p.G122D	PCYT2_ENST00000571105.1_Missense_Mutation_p.G122D|PCYT2_ENST00000570388.1_Missense_Mutation_p.G44D|PCYT2_ENST00000570391.1_Missense_Mutation_p.G90D|PCYT2_ENST00000331285.3_Missense_Mutation_p.G44D|PCYT2_ENST00000538721.2_Missense_Mutation_p.G122D	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	122	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGTGTCCCGGCCATCTACAGT	0.597													False	0	False	17:79866486	0	T	79866486	C	T	79866486	3	4	69	1	0	0	0	0	1	0	0	0	11680	739	26	2	902	2	PCYT2	17	79866486	Missense_Mutation	SNP	C	TCGA-HZ-8519-01A-11D-2396-08	41008351	79866486	1328724	28	5832											
LAMA1	284217	broad.mit.edu	37	chr18	7007226	7007227	+	Frame_Shift_Del	DEL	CT	CT	-													caaccagagggcgtggtcccCtgtcactccctgctgggagc							TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr18:7007226_7007227delCT	ENST00000389658.3	-	29	4264_4265	c.4171_4172delAG	c.(4171-4173)aggfs	p.R1391fs		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1391	Laminin EGF-like 14; second part.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGTGGTCCCCTGTCACTCCCT	0.559													False	1	True	18:7007226	0	-	7007227	CT	-	7007226	7	5	69	1	0	1	0	1	0	0	0	0	8656	681	24	0	5195	0	LAMA1	18	7007226	Frame_Shift_Del	DEL	CT	TCGA-HZ-8519-01A-11D-2396-08		7007226	71070022	29	5833											
ZNF101	94039	broad.mit.edu	37	chr19	19790877	19790878	+	Frame_Shift_Del	DEL	AT	AT	-													tcgaagacataaaaaaactcAtagtggagaaaagccatatg					rs34704748		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr19:19790877_19790878delAT	ENST00000592502.1	+	4	1189_1190	c.1079_1080delAT	c.(1078-1080)catfs	p.H360fs	ZNF101_ENST00000415784.2_Frame_Shift_Del_p.H240fs			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H360L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AAAAAAACTCATAGTGGAGAAA	0.401													False	1	False	19:19790877	0	-	19790878	AT	-	19790877	7	5	69	1	0	1	0	1	0	0	0	0	17797	217	8	0	1093	0	ZNF101	19	19790877	Frame_Shift_Del	DEL	AT	TCGA-HZ-8519-01A-11D-2396-08		19790877	39338106	30	5834											
ZNF134	7693	broad.mit.edu	37	chr19	58132432	58132432	+	Frame_Shift_Del	DEL	T	T	-													attcacactggagaaaatccTtatgattgcagtgattgtgg							TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr19:58132432delT	ENST00000396161.5	+	3	1255	c.945delT	c.(943-945)cctfs	p.P315fs		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	315						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAGAAAATCCTTATGATTGCA	0.413													False	2	False	19:58132432	0	-	58132432	T	-	58132432	7	5	69	1	0	1	0	1	0	0	0	0	17807	1596	56	0	951	0	ZNF134	19	58132432	Frame_Shift_Del	DEL	T	TCGA-HZ-8519-01A-11D-2396-08	38341555	58132432	996551	31	5835											
SPAG4	6676	broad.mit.edu	37	chr20	34204182	34204182	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagcgcctcggagccacaActggcagacagcctgtggcg	14	15	0	1			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr20:34204182A>G	ENST00000374273.3	+	1	369	c.257A>G	c.(256-258)aAc>aGc	p.N86S		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	86					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CGGAGCCACAACTGGCAGACA	0.736													False	0	False	20:34204182	0	G	34204182	A	G	34204182	3	3	69	1	0	0	0	0	1	0	0	0	15062	43	2	4	259	4	SPAG4	20	34204182	Missense_Mutation	SNP	A	TCGA-HZ-8519-01A-11D-2396-08		34204182	28821338	32	5836											
CHD6	0	broad.mit.edu	37	chr20	40127944	40127944	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagccaccaacctcctggacAgtcttagatgccaggatctt	9	13	2	1			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr20:40127944A>G	ENST00000373233.3	-	6	1083	c.906T>C	c.(904-906)acT>acC	p.T302T	CHD6_ENST00000309279.7_Silent_p.T302T|CHD6_ENST00000373222.3_Silent_p.T337T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	302	Chromo 1.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTCCTGGACAGTCTTAGATG	0.398													False	0	False	20:40127944	0	G	40127944	A	G	40127944	2	3	69	1	0	0	0	0	0	0	0	1	3352	175	7	4		4	CHD6	20	40127944	Silent	SNP	A	TCGA-HZ-8519-01A-11D-2396-08	5923762	40127944	22897576	33	5837											
IFNAR2	3455	broad.mit.edu	37	chr21	34619148	34619149	+	Frame_Shift_Del	DEL	AC	AC	-													cctagaaggattcagcgggaAcacaacgttgttcagttgct							TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr21:34619148_34619149delAC	ENST00000404220.3	+	5	676_677	c.347_348delAC	c.(346-348)aacfs	p.N116fs	IFNAR2_ENST00000382264.3_Frame_Shift_Del_p.N116fs|AP000295.9_ENST00000433395.2_Frame_Shift_Del_p.T24fs|IFNAR2_ENST00000342101.3_Frame_Shift_Del_p.N116fs|IFNAR2_ENST00000342136.4_Frame_Shift_Del_p.N116fs|IFNAR2_ENST00000382241.3_Frame_Shift_Del_p.N116fs|IFNAR2_ENST00000413881.1_Frame_Shift_Del_p.N44fs|IFNAR2_ENST00000420068.1_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	116					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTCAGCGGGAACACAACGTTGT	0.446													False	2	False	21:34619148	0	-	34619149	AC	-	34619148	7	5	69	1	0	1	0	1	0	0	0	0	7595	43	2	0	361	0	IFNAR2	21	34619148	Frame_Shift_Del	DEL	AC	TCGA-HZ-8519-01A-11D-2396-08		34619148	13510747	34	5838											
TRIOBP	11078	broad.mit.edu	37	chr22	38119755	38119757	+	In_Frame_Del	DEL	CAA	CAA	-													cctctcccaacagaaccactCaacgagagaattccagaaca					rs71322688		TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr22:38119755_38119757delCAA	ENST00000406386.3	+	7	1447_1449	c.1192_1194delCAA	c.(1192-1194)caadel	p.Q398del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	398					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.Q398R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGAACCACTCAACGAGAGAATT	0.552													False	1	False	22:38119755	0	-	38119757	CAA	-	38119755	7	5	69	1	0	1	0	1	0	0	0	0	16636	827	29	0	1210	0	TRIOBP	22	38119755	In_Frame_Del	DEL	CAA	TCGA-HZ-8519-01A-11D-2396-08		38119755	13184811	35	5839											
TRIOBP	11078	broad.mit.edu	37	chr22	38120431	38120431	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caatagagccacacgagataAccccagaacatcctgtgccc	7	15	0	3			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chr22:38120431A>T	ENST00000406386.3	+	7	2123	c.1868A>T	c.(1867-1869)aAc>aTc	p.N623I		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	623					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACACGAGATAACCCCAGAACA	0.587													False	0	True	22:38120431	0	T	38120431	A	T	38120431	3	4	69	1	0	0	0	0	1	0	0	0	16636	43	2	5	1886	5	TRIOBP	22	38120431	Missense_Mutation	SNP	A	TCGA-HZ-8519-01A-11D-2396-08	676	38120431	13184135	36	5840											
ATXN3L	92552	broad.mit.edu	37	chrX	13337260	13337260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatgatgtctttggaagaTcttgcgatgtgtttccggaa	11	7	2	2			TCGA-HZ-8519-01A-11D-2396-08	TCGA-HZ-8519-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5e71fad-3b79-47f8-b3c7-3aa289972191	63b831aa-a874-4e47-b5e9-b75522bb6e66	g.chrX:13337260T>C	ENST00000380622.2	-	1	1258	c.794A>G	c.(793-795)gAt>gGt	p.D265G	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	265					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CTTTGGAAGATCTTGCGATGT	0.428													False	0	False	X:13337260	0	C	13337260	T	C	13337260	3	2	69	1	0	0	0	0	1	0	0	0	1218	1435	50	4	277	4	ATXN3L	23	13337260	Missense_Mutation	SNP	T	TCGA-HZ-8519-01A-11D-2396-08		13337260	141933300	37	5841											
MTOR	2475	broad.mit.edu	37	chr1	11269497	11269497	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcaaaggatcctcctcttCatcagcaagtgtgtatccct	6	12	4	0			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:11269497C>T	ENST00000361445.4	-	25	3749	c.3673G>A	c.(3673-3675)Gaa>Aaa	p.E1225K		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1225					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCCTCCTCTTCATCAGCAAGT	0.433													False	0	False	1:11269497	0	T	11269497	C	T	11269497	3	4	70	1	0	0	0	0	1	0	0	0	10021	835	29	2	4112	2	MTOR	1	11269497	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08		11269497	237981124	1	5842											
RSC1A1	6248	broad.mit.edu	37	chr1	15987039	15987039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgggctcccacagaatgtgGatcctccaagtgcgaagaaa	11	10	0	2			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:15987039G>A	ENST00000345034.1	+	1	676	c.676G>A	c.(676-678)Gat>Aat	p.D226N	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	226					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGAATGTGGATCCTCCAAG	0.428													False	0	False	1:15987039	0	A	15987039	G	A	15987039	3	1	70	1	0	0	0	0	1	0	0	0	13777	1174	41	2	678	2	RSC1A1	1	15987039	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	4717542	15987039	233263582	2	5843											
RPA2	6118	broad.mit.edu	37	chr1	28240605	28240605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggcttgagaaggtgcgggcGatccaaagccccccggggac	16	13	0	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:28240605G>A	ENST00000373912.3	-	2	385	c.86C>T	c.(85-87)tCg>tTg	p.S29L	RPA2_ENST00000313433.7_Missense_Mutation_p.S117L|RPA2_ENST00000373909.3_Missense_Mutation_p.S37L	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	29	Gly/Ser-rich.				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGCGGGCGATCCAAAGCC	0.502								Direct reversal of damage;Nucleotide excision repair (NER)					False	0	False	1:28240605	0	A	28240605	G	A	28240605	3	1	70	1	0	0	0	0	1	0	0	0	13616	1059	37	1	758	1	RPA2	1	28240605	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	12253566	28240605	221010016	3	5844											
SLC30A7	148867	broad.mit.edu	37	chr1	101379319	101379319	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaacatggtgctgcacaTagccatgatcatgctcatgg	11	9	2	2			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:101379319T>C	ENST00000370112.4	+	6	799	c.612T>C	c.(610-612)caT>caC	p.H204H	SLC30A7_ENST00000357650.4_Silent_p.H204H	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	204	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		GTGCTGCACATAGCCATGATC	0.463													False	0	False	1:101379319	0	C	101379319	T	C	101379319	2	2	70	1	0	0	0	0	0	0	0	1	14640	1403	49	4		4	SLC30A7	1	101379319	Silent	SNP	T	TCGA-HZ-8636-01A-21D-2396-08	73138714	101379319	147871302	4	5845											
CTSK	1513	broad.mit.edu	37	chr1	150776542	150776542	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcagagtcaataccccggttCttctgcacatattggaaggc	9	11	4	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:150776542C>G	ENST00000271651.3	-	5	683	c.573G>C	c.(571-573)aaG>aaC	p.K191N	CTSK_ENST00000480670.1_5'UTR	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	191					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TACCCCGGTTCTTCTGCACAT	0.493													False	0	False	1:150776542	0	G	150776542	C	G	150776542	3	3	70	1	0	0	0	0	1	0	0	0	4062	912	32	5	432	5	CTSK	1	150776542	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	49397223	150776542	98474079	5	5846											
KDM5B	10765	broad.mit.edu	37	chr1	202731900	202731901	+	Frame_Shift_Ins	INS	-	-	GTTTAAACTTAAATTTGTACCT													aatataatctttcctctcaaINStaggttcttgcttgatgcta							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:202731900_202731901insGTTTAAACTTAAATTTGTACCT	ENST00000367265.3	-	7	2008_2009	c.844_845insAGGTACAAATTTAAGTTTAAAC	c.(844-846)attfs	p.I282fs	KDM5B_ENST00000367264.2_Frame_Shift_Ins_p.I318fs	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	282					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTTCCTCTCAATAGGTTCTTGC	0.396													False	0	False	1:202731900	0	GTTTAAACTTAAATTTGTACCT	202731901	-	GTTTAAACTTAAATTTGTACCT	202731900	7	5	70	1	0	1	1	0	0	0	0	0	8184	101	4	0	3873	0	KDM5B	1	202731900	Frame_Shift_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08	51955358	202731900	46518721	6	5847											
ARID4B	51742	broad.mit.edu	37	chr1	235383222	235383223	+	Frame_Shift_Ins	INS	-	-	ATGAATC													gtcttctggttttttaatgtINStaacttctttttcctgatca							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:235383222_235383223insATGAATC	ENST00000264183.3	-	16	1965_1966	c.1468_1469insGATTCAT	c.(1468-1470)aacfs	p.N490fs	ARID4B_ENST00000349213.3_Frame_Shift_Ins_p.N490fs|ARID4B_ENST00000366603.2_Frame_Shift_Ins_p.N490fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	490	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTTTTAATGTTAACTTCTTTT	0.327													False	0	False	1:235383222	0	ATGAATC	235383223	-	ATGAATC	235383222	7	5	70	1	0	1	1	0	0	0	0	0	922	1725	60	0	2505	0	ARID4B	1	235383222	Frame_Shift_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08	32651322	235383222	13867399	7	5848											
TPO	7173	broad.mit.edu	37	chr2	1426892	1426892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaccgccatgtacgccaCgatgcagaggtgagccttgc	13	13	0	2			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:1426892C>T	ENST00000345913.4	+	3	261	c.170C>T	c.(169-171)aCg>aTg	p.T57M	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.T57M|TPO_ENST00000337415.3_Missense_Mutation_p.T57M|TPO_ENST00000349624.3_Missense_Mutation_p.T57M|TPO_ENST00000539820.1_Missense_Mutation_p.T57M|TPO_ENST00000346956.3_Missense_Mutation_p.T57M|TPO_ENST00000329066.4_Missense_Mutation_p.T57M|TPO_ENST00000382201.3_Missense_Mutation_p.T57M|TPO_ENST00000382269.3_Missense_Mutation_p.T57M	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	57					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ATGTACGCCACGATGCAGAGG	0.592													False	0	False	2:1426892	0	T	1426892	C	T	1426892	3	4	70	1	0	0	0	0	1	0	0	0	16493	536	19	1	176	1	TPO	2	1426892	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08		1426892	241772481	8	5849											
KIF3C	3797	broad.mit.edu	37	chr2	26204102	26204102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctggccatcagagccacGttcgctgcactccacagtga	10	15	1	2			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:26204102G>A	ENST00000264712.3	-	1	1264	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	KIF3C_ENST00000405914.1_Missense_Mutation_p.R229C	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	229	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGAGCCACGTTCGCTGCAC	0.627													False	0	False	2:26204102	0	A	26204102	G	A	26204102	3	1	70	1	0	0	0	0	1	0	0	0	8352	1145	40	1	1728	1	KIF3C	2	26204102	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	24777210	26204102	216995271	9	5850											
DPYSL5	56896	broad.mit.edu	37	chr2	27156166	27156166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcaacgtgtccagtatctCggctggtgacgttatcgcag	13	10	2	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:27156166C>T	ENST00000288699.6	+	7	913	c.755C>T	c.(754-756)tCg>tTg	p.S252L	DPYSL5_ENST00000401478.1_Missense_Mutation_p.S252L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	252					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.S252L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGTATCTCGGCTGGTGAC	0.517													False	0	False	2:27156166	0	T	27156166	C	T	27156166	3	4	70	1	0	0	0	0	1	0	0	0	4780	893	31	1	777	1	DPYSL5	2	27156166	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	952064	27156166	216043207	10	5851											
FOXN2	3344	broad.mit.edu	37	chr2	48602402	48602403	+	Frame_Shift_Ins	INS	-	-	AATC													gctatgcatcacagccttgtINSgcaaaaatctctgaaaaagg							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:48602402_48602403insAATC	ENST00000340553.3	+	7	1377_1378	c.1116_1117insAATC	c.(1117-1119)gcafs	p.A373fs		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	373					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CACAGCCTTGTGCAAAAATCTC	0.446													False	0	False	2:48602402	0	AATC	48602403	-	AATC	48602402	7	5	70	1	0	1	1	0	0	0	0	0	6062	1702	59	0	1134	0	FOXN2	2	48602402	Frame_Shift_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08	21446236	48602402	194596971	11	5852	114	2									
FOXN2	3344	broad.mit.edu	37	chr2	48602403	48602404	+	Frame_Shift_Ins	INS	-	-	TA													ctatgcatcacagccttgtgINScaaaaatctctgaaaaaggg							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:48602403_48602404insTA	ENST00000340553.3	+	7	1378_1379	c.1117_1118insTA	c.(1117-1119)gcafs	p.A373fs		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	373					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ACAGCCTTGTGCAAAAATCTCT	0.45													False	0	True	2:48602403	0	TA	48602404	-	TA	48602403	7	5	70	1	0	1	1	0	0	0	0	0	6062	1319	46	0	1135	0	FOXN2	2	48602403	Frame_Shift_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08	1	48602403	194596970	12	5853	114	2									
SMEK2	57223	broad.mit.edu	37	chr2	55812291	55812292	+	Frame_Shift_Ins	INS	-	-	ACTATTGAGAGAAAAAACATAAC													gcagctgatctgacttgcaaINSatcatccatgccctgataaa							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:55812291_55812292insACTATTGAGAGAAAAAACATAAC	ENST00000272313.5	-	7	1455_1456	c.1128_1129insGTTATGTTTTTTCTCTCAATAGT	c.(1126-1131)gatttgfs	p.L377fs	SMEK2_ENST00000345102.5_Frame_Shift_Ins_p.L377fs|SMEK2_ENST00000407823.3_Frame_Shift_Ins_p.L377fs	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	377						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGACTTGCAAATCATCCATGC	0.351													False	0	True	2:55812291	0	ACTATTGAGAGAAAAAACATAAC	55812292	-	ACTATTGAGAGAAAAAACATAAC	55812291	7	5	70	1	0	1	1	0	0	0	0	0	14874	11	1	0	1464	0	SMEK2	2	55812291	Frame_Shift_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08	7209888	55812291	187387082	13	5854											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	70	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-HZ-8636-01A-21D-2396-08	42035074	97847365	145352008	14	5855											
LRP2	4036	broad.mit.edu	37	chr2	170070366	170070366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcgatctgttccatccacGtttcctctttcaatctaaag	4	12	4	0			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:170070366G>A	ENST00000263816.3	-	36	6126	c.5841C>T	c.(5839-5841)aaC>aaT	p.N1947N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1947					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCCATCCACGTTTCCTCTTT	0.353													False	0	True	2:170070366	0	A	170070366	G	A	170070366	2	1	70	1	0	0	0	0	0	0	0	1	9018	1136	40	1		1	LRP2	2	170070366	Silent	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	72223001	170070366	73129007	15	5856											
PPIG	9360	broad.mit.edu	37	chr2	170493041	170493042	+	Frame_Shift_Ins	INS	-	-	ATTGGGG													aaaaaatgaaaaggagaagaINSaagttaaagaccataaatct							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:170493041_170493042insATTGGGG	ENST00000260970.3	+	14	1493_1494	c.1273_1274insATTGGGG	c.(1273-1275)aaafs	p.K425fs	PPIG_ENST00000409714.3_Frame_Shift_Ins_p.K410fs|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Frame_Shift_Ins_p.K425fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	425					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAGGAGAAGAAAGTTAAAGAC	0.322													False	0	True	2:170493041	0	ATTGGGG	170493042	-	ATTGGGG	170493041	7	5	70	1	0	1	1	0	0	0	0	0	12398	247	9	0	1319	0	PPIG	2	170493041	Frame_Shift_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08	422675	170493041	72706332	16	5857											
ZNF804A	91752	broad.mit.edu	37	chr2	185802911	185802911	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccccaacaaaagaagcaattGacaataccctgcttgaacac	5	13	0	3			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:185802911G>C	ENST00000302277.6	+	4	3382	c.2788G>C	c.(2788-2790)Gac>Cac	p.D930H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	930						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGAAGCAATTGACAATACCCT	0.378													False	0	False	2:185802911	0	C	185802911	G	C	185802911	3	2	70	1	0	0	0	0	1	0	0	0	18252	1290	45	5	2802	5	ZNF804A	2	185802911	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	15309870	185802911	57396462	17	5858											
SDPR	8436	broad.mit.edu	37	chr2	192711597	192711597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgagggcttttcctgccGcatgtcagacccagggtgct	13	13	1	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:192711597G>A	ENST00000304141.4	-	1	384	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	19						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTTTCCTGCCGCATGTCAGAC	0.607													False	0	False	2:192711597	0	A	192711597	G	A	192711597	3	1	70	1	0	0	0	0	1	0	0	0	14051	1086	38	1	1230	1	SDPR	2	192711597	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	6908686	192711597	50487776	18	5859											
OBSL1	23363	broad.mit.edu	37	chr2	220428119	220428119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacactcatctccagcgaCgcactgaaactcgcccccgt	8	18	2	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:220428119C>T	ENST00000404537.1	-	7	2694	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I	OBSL1_ENST00000373873.4_Missense_Mutation_p.V880I|OBSL1_ENST00000373876.1_Missense_Mutation_p.V880I|OBSL1_ENST00000289656.3_Missense_Mutation_p.V467I|OBSL1_ENST00000603926.1_Missense_Mutation_p.V880I|OBSL1_ENST00000265318.4_Missense_Mutation_p.V880I	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	880	Ig-like 6.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCTCCAGCGACGCACTGAAAC	0.662													False	0	False	2:220428119	0	T	220428119	C	T	220428119	3	4	70	1	0	0	0	0	1	0	0	0	10881	536	19	1	3264	1	OBSL1	2	220428119	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	27716522	220428119	22771254	19	5860											
HDAC4	9759	broad.mit.edu	37	chr2	240061399	240061399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccgccgggatgctggggAcggcgggcgcgataccgttc	17	14	0	0	rs144813118	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:240061399A>G	ENST00000345617.3	-	9	1750	c.959T>C	c.(958-960)gTc>gCc	p.V320A	HDAC4_ENST00000541256.1_Missense_Mutation_p.V289A|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	320					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GATGCTGGGGACGGCGGGCGC	0.657													False	0	True	2:240061399	0	G	240061399	A	G	240061399	3	3	70	1	0	0	0	0	1	0	0	0	7056	275	10	4	2371	4	HDAC4	2	240061399	Missense_Mutation	SNP	A	TCGA-HZ-8636-01A-21D-2396-08	19633280	240061399	3137974	20	5861											
WNT7A	7476	broad.mit.edu	37	chr3	13860779	13860779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcacgcacaggctccaCgtgaacggcctcgttgtact	12	14	0	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:13860779C>T	ENST00000285018.4	-	4	1016	c.712G>A	c.(712-714)Gtg>Atg	p.V238M		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	238					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ACAGGCTCCACGTGAACGGCC	0.602													False	0	False	3:13860779	0	T	13860779	C	T	13860779	3	4	70	1	0	0	0	0	1	0	0	0	17478	536	19	1	341	1	WNT7A	3	13860779	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08		13860779	184161651	21	5862											
SCN5A	6331	broad.mit.edu	37	chr3	38593036	38593036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtacttctggatgatgtcCgagagcacagtgcctgtggg	14	8	1	2			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:38593036C>T	ENST00000413689.1	-	28	5020	c.4827G>A	c.(4825-4827)tcG>tcA	p.S1609S	SCN5A_ENST00000414099.2_Silent_p.S1591S|SCN5A_ENST00000451551.2_Silent_p.S1555S|SCN5A_ENST00000333535.4_Silent_p.S1609S|SCN5A_ENST00000423572.2_Silent_p.S1608S|SCN5A_ENST00000455624.2_Silent_p.S1576S|SCN5A_ENST00000443581.1_Silent_p.S1608S|SCN5A_ENST00000425664.1_Silent_p.S1591S|SCN5A_ENST00000450102.2_Silent_p.S1555S|SCN5A_ENST00000449557.2_Silent_p.S1555S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1609			S -> W (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGATGATGTCCGAGAGCACAG	0.612													False	0	False	3:38593036	0	T	38593036	C	T	38593036	2	4	70	1	0	0	0	0	0	0	0	1	14003	639	23	1		1	SCN5A	3	38593036	Silent	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	24732257	38593036	159429394	22	5863											
MST1	4485	broad.mit.edu	37	chr3	49725275	49725279	+	Frame_Shift_Del	DEL	GTGCT	GTGCT	-													ggcaccaccgcatgtagcagGtgctgtagctctgtgccccg							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	GTGCT	GTGCT	-	-	GTGCT	GTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:49725275_49725279delGTGCT	ENST00000449682.2	-	2	507_511	c.146_150delAGCAC	c.(145-150)cagcacfs	p.QH49fs	MST1_ENST00000383728.3_Intron|MST1_ENST00000545762.1_Frame_Shift_Del_p.QH35fs|MST1_ENST00000494828.2_Intron	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	35	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CATGTAGCAGGTGCTGTAGCTCTGT	0.61													False	1	False	3:49725275	0	-	49725279	GTGCT	-	49725275	7	5	70	1	0	1	0	1	0	0	0	0	9957	1252	44	0	2095	0	MST1	3	49725275	Frame_Shift_Del	DEL	GTGCT	TCGA-HZ-8636-01A-21D-2396-08	11132239	49725275	148297155	23	5864											
NCK1	4690	broad.mit.edu	37	chr3	136665132	136665133	+	Frame_Shift_Ins	INS	-	-	GGATTATTCTGCATAA													cctcattcgtgatagtgaatINScttcggtaagttgattttcg							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:136665132_136665133insGGATTATTCTGCATAA	ENST00000469404.1	+	2	833_834	c.742_743insGGATTATTCTGCATAA	c.(742-744)tctfs	p.S248fs	NCK1_ENST00000288986.2_Frame_Shift_Ins_p.S312fs|NCK1_ENST00000481752.1_Frame_Shift_Ins_p.S312fs|IL20RB_ENST00000484501.1_3'UTR	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	312	SH3 3.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TGATAGTGAATCTTCGGTAAGT	0.391													False	0	False	3:136665132	0	GGATTATTCTGCATAA	136665133	-	GGATTATTCTGCATAA	136665132	7	5	70	1	0	1	1	0	0	0	0	0	10287	1435	50	0	940	0	NCK1	3	136665132	Frame_Shift_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08	86939857	136665132	61357298	24	5865											
ATR	545	broad.mit.edu	37	chr3	142281392	142281392	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagagtttcaattggtcagtAtccatttctacaaggtgttt	8	6	3	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:142281392A>G	ENST00000350721.4	-	4	973	c.852T>C	c.(850-852)gaT>gaC	p.D284D	ATR_ENST00000383101.3_Silent_p.D284D	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	284					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATTGGTCAGTATCCATTTCTA	0.348								Other conserved DNA damage response genes					False	0	False	3:142281392	0	G	142281392	A	G	142281392	2	3	70	1	0	0	0	0	0	0	0	1	1208	446	16	4		4	ATR	3	142281392	Silent	SNP	A	TCGA-HZ-8636-01A-21D-2396-08	5616260	142281392	55741038	25	5866											
POLR2B	5431	broad.mit.edu	37	chr4	57891701	57891702	+	Frame_Shift_Ins	INS	-	-	AAAAATTAAACAA													agcccatggagggtagatctINScggtaagaactgtatcatca							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr4:57891701_57891702insAAAAATTAAACAA	ENST00000381227.1	+	24	3650_3651	c.3237_3238insAAAAATTAAACAA	c.(3238-3240)cgtfs	p.R1080fs	POLR2B_ENST00000431623.2_Frame_Shift_Ins_p.R1005fs|POLR2B_ENST00000314595.5_Frame_Shift_Ins_p.R1080fs|POLR2B_ENST00000441246.2_Frame_Shift_Ins_p.R1073fs			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1080					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGGGTAGATCTCGGTAAGAACT	0.386													False	0	False	4:57891701	0	AAAAATTAAACAA	57891702	-	AAAAATTAAACAA	57891701	7	5	70	1	0	1	1	0	0	0	0	0	12284	1538	54	0	3327	0	POLR2B	4	57891701	Frame_Shift_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08		57891701	133262575	26	5867											
PALLD	23022	broad.mit.edu	37	chr4	169837051	169837051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcttgtttcaaggcctcGttctagatcaagggacagtg	10	9	4	1	rs114171764	by1000genomes	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr4:169837051G>A	ENST00000335742.7	+	17	3555	c.2198G>A	c.(2197-2199)cGt>cAt	p.R733H	PALLD_ENST00000507735.1_Missense_Mutation_p.R404H|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.R891H|PALLD_ENST00000505667.1_Missense_Mutation_p.R908H|PALLD_ENST00000512127.1_Missense_Mutation_p.R509H			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1115	Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCAAGGCCTCGTTCTAGATCA	0.393									Pancreatic Cancer, Familial Clustering of				False	0	False	4:169837051	0	A	169837051	G	A	169837051	3	1	70	1	0	0	0	0	1	0	0	0	11475	1145	40	1	3292	1	PALLD	4	169837051	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	111945350	169837051	21317225	27	5868											
FBXL7	23194	broad.mit.edu	37	chr5	15937245	15937245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccctgcgctttgtcaaaCgccactgcaagcgctgcgtc	11	15	1	0			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:15937245C>T	ENST00000504595.1	+	4	1907	c.1426C>T	c.(1426-1428)Cgc>Tgc	p.R476C	FBXL7_ENST00000510662.1_Missense_Mutation_p.R429C|FBXL7_ENST00000329673.7_Missense_Mutation_p.R464C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	476					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R476C(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTTTGTCAAACGCCACTGCAA	0.577													False	0	True	5:15937245	0	T	15937245	C	T	15937245	3	4	70	1	0	0	0	0	1	0	0	0	5764	536	19	1	1440	1	FBXL7	5	15937245	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08		15937245	164978015	28	5869											
BTF3	689	broad.mit.edu	37	chr5	72798334	72798334	+	Missense_Mutation	SNP	A	A	G													gaactgctcgcagaaagaagAaggtggttcatagaacagcc							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:72798334A>G	ENST00000380591.3	+	3	442	c.223A>G	c.(223-225)Aag>Gag	p.K75E	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Missense_Mutation_p.K31E	NM_001037637.1	NP_001032726.1	P20290	BTF3_HUMAN	basic transcription factor 3	75				Missing (in Ref. 2; AAA58398).	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CAGAAAGAAGAAGGTGGTTCA	0.383													False	0	True	5:72798334	0	G	72798334	A	G	72798334	3	3	70	1	0	0	0	0	1	0	0	0	1558	247	9	4	233	4	BTF3	5	72798334	Missense_Mutation	SNP	A	TCGA-HZ-8636-01A-21D-2396-08	56861089	72798334	108116926	29	5870	115	2									
BTF3	689	broad.mit.edu	37	chr5	72798335	72798335	+	Missense_Mutation	SNP	A	A	T													aactgctcgcagaaagaagaAggtggttcatagaacagcca							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:72798335A>T	ENST00000380591.3	+	3	443	c.224A>T	c.(223-225)aAg>aTg	p.K75M	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Missense_Mutation_p.K31M	NM_001037637.1	NP_001032726.1	P20290	BTF3_HUMAN	basic transcription factor 3	75				Missing (in Ref. 2; AAA58398).	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		AGAAAGAAGAAGGTGGTTCAT	0.388													False	0	True	5:72798335	0	T	72798335	A	T	72798335	3	4	70	1	0	0	0	0	1	0	0	0	1558	72	3	5	234	5	BTF3	5	72798335	Missense_Mutation	SNP	A	TCGA-HZ-8636-01A-21D-2396-08	1	72798335	108116925	30	5871	115	2									
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	70	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-HZ-8636-01A-21D-2396-08	5812109	78610444	102304816	31	5872											
POU5F2	134187	broad.mit.edu	37	chr5	93077092	93077092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaggggaatcctccacaCgtcagggcctgggcagatcc	12	15	1	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:93077092C>T	ENST00000510627.4	-	1	251	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000395965.3_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	60						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		ATCCTCCACACGTCAGGGCCT	0.672													False	0	False	5:93077092	0	T	93077092	C	T	93077092	3	4	70	1	0	0	0	0	1	0	0	0	12352	536	19	1	812	1	POU5F2	5	93077092	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	14466648	93077092	87838168	32	5873											
TSSK1B	83942	broad.mit.edu	37	chr5	112770240	112770240	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccgggttttgattaactcGaggaggtcgccctggaccgc	13	13	0	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:112770240G>A	ENST00000390666.3	-	1	488	c.297C>T	c.(295-297)ctC>ctT	p.L99L	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	99	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TGATTAACTCGAGGAGGTCGC	0.537													False	0	False	5:112770240	0	A	112770240	G	A	112770240	2	1	70	1	0	0	0	0	0	0	0	1	16751	1045	37	1		1	TSSK1B	5	112770240	Silent	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	19693148	112770240	68145020	33	5874											
SLC36A3	285641	broad.mit.edu	37	chr5	150660632	150660632	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacaaacagtgcccagctctCtgacacttgggagatggcaa	10	11	1	2			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:150660632C>G	ENST00000335230.3	-	9	1498	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	SLC36A3_ENST00000377713.3_Missense_Mutation_p.E404Q	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	363						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCAGCTCTCTGACACTTGG	0.507													False	0	True	5:150660632	0	G	150660632	C	G	150660632	3	3	70	1	0	0	0	0	1	0	0	0	14675	922	32	5	333	5	SLC36A3	5	150660632	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	37890392	150660632	30254628	34	5875											
MAT2B	27430	broad.mit.edu	37	chr5	162943708	162943709	+	In_Frame_Ins	INS	-	-	AATAAA													gccggcagctagcagagaagINSagaatgctggtaagaaggat							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:162943708_162943709insAATAAA	ENST00000518095.1	+	5	784_785	c.711_712insAATAAA	c.(712-714)aga>AATAAAaga	p.237_238insNK	MAT2B_ENST00000518731.1_Intron|MAT2B_ENST00000280969.5_In_Frame_Ins_p.226_227insNK|MAT2B_ENST00000321757.6_In_Frame_Ins_p.237_238insNK			Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	237					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TAGCAGAGAAGAGAATGCTGGT	0.495													False	0	True	5:162943708	0	AATAAA	162943709	-	AATAAA	162943708	7	5	70	1	0	1	1	0	0	0	0	0	9398	933	33	0	763	0	MAT2B	5	162943708	In_Frame_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08	12283076	162943708	17971552	35	5876	116	2									
MAT2B	27430	broad.mit.edu	37	chr5	162943710	162943711	+	Frame_Shift_Ins	INS	-	-	CA													cggcagctagcagagaagagINSaatgctggtaagaaggattc							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:162943710_162943711insCA	ENST00000518095.1	+	5	786_787	c.713_714insCA	c.(712-717)agaatgfs	p.RM238fs	MAT2B_ENST00000518731.1_Intron|MAT2B_ENST00000280969.5_Frame_Shift_Ins_p.RM227fs|MAT2B_ENST00000321757.6_Frame_Shift_Ins_p.RM238fs			Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	238					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCAGAGAAGAGAATGCTGGTAA	0.495													False	0	True	5:162943710	0	CA	162943711	-	CA	162943710	7	5	70	1	0	1	1	0	0	0	0	0	9398	942	33	0	765	0	MAT2B	5	162943710	Frame_Shift_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08	2	162943710	17971550	36	5877	116	2									
FKBP5	2289	broad.mit.edu	37	chr6	35604901	35604901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactttgtctccaatcatcGgcgtttcctcaccattcccc	4	16	3	0			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:35604901G>A	ENST00000542713.1	-	3	297	c.140C>T	c.(139-141)cCg>cTg	p.P47L	FKBP5_ENST00000539068.1_Missense_Mutation_p.P47L|FKBP5_ENST00000536438.1_Missense_Mutation_p.P47L|FKBP5_ENST00000357266.4_Missense_Mutation_p.P47L|FKBP5_ENST00000540787.1_Intron	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	47	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TCCAATCATCGGCGTTTCCTC	0.338													False	0	False	6:35604901	0	A	35604901	G	A	35604901	3	1	70	1	0	0	0	0	1	0	0	0	5951	1116	39	1	1327	1	FKBP5	6	35604901	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08		35604901	135510166	37	5878											
SNX13	23161	broad.mit.edu	37	chr7	17838732	17838733	+	In_Frame_Ins	INS	-	-	TGGAAGTAG													tcttttaagtcgaatacttcINSatccatgagaagcagcatta							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:17838732_17838733insTGGAAGTAG	ENST00000409389.1	-	23	2548_2549	c.2376_2377insCTACTTCCA	c.(2374-2379)gatgaa>gatCTACTTCCAgaa	p.792_793DE>DLLPE	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_In_Frame_Ins_p.781_782DE>DLLPE			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	792					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCGAATACTTCATCCATGAGAA	0.332													False	0	False	7:17838732	0	TGGAAGTAG	17838733	-	TGGAAGTAG	17838732	7	5	70	1	0	1	1	0	0	0	0	0	14964	835	29	0	545	0	SNX13	7	17838732	In_Frame_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08		17838732	141299931	38	5879											
NUPL2	11097	broad.mit.edu	37	chr7	23221735	23221735	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtcaattcttccttcaaggcCggtgccgctttggagatcgg	12	11	3	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:23221735C>G	ENST00000258742.5	+	1	290	c.31C>G	c.(31-33)Cgg>Ggg	p.R11G	NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000410002.3_Missense_Mutation_p.R11G	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	11					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTTCAAGGCCGGTGCCGCTT	0.612													False	0	False	7:23221735	0	G	23221735	C	G	23221735	3	3	70	1	0	0	0	0	1	0	0	0	10843	643	23	5	33	5	NUPL2	7	23221735	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	5383003	23221735	135916928	39	5880											
PCLO	27445	broad.mit.edu	37	chr7	82544266	82544266	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggtattcttcctctactttGactaattggcaaactggtcg	8	9	2	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:82544266G>T	ENST00000333891.9	-	7	13373	c.13036C>A	c.(13036-13038)Caa>Aaa	p.Q4346K	PCLO_ENST00000423517.2_Missense_Mutation_p.Q4346K|PCLO_ENST00000437081.1_Missense_Mutation_p.Q1066K	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTCTACTTTGACTAATTGGC	0.488													False	0	True	7:82544266	0	T	82544266	G	T	82544266	3	4	70	1	0	0	0	0	1	0	0	0	11651	1299	45	3	2485	3	PCLO	7	82544266	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	59322531	82544266	76594397	40	5881											
TRPV6	55503	broad.mit.edu	37	chr7	142574925	142574925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggttgcagggactacggcGgaaggcagtgcctgtggctc	18	9	0	0	rs148239732		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:142574925G>A	ENST00000359396.3	-	4	702	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	153					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGACTACGGCGGAAGGCAGTG	0.622													False	0	False	7:142574925	0	A	142574925	G	A	142574925	3	1	70	1	0	0	0	0	1	0	0	0	16683	1116	39	1	1768	1	TRPV6	7	142574925	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	60030659	142574925	16563738	41	5882											
SYT15	83849	broad.mit.edu	37	chr10	46965752	46965752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtctctccagatgacaCgccggcagtcccccactagg	10	17	1	2			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr10:46965752C>T	ENST00000374323.4	-	4	1531	c.944G>A	c.(943-945)cGt>cAt	p.R315H	SYT15_ENST00000374325.3_Missense_Mutation_p.R262H|SYT15_ENST00000503753.1_Missense_Mutation_p.R262H|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Missense_Mutation_p.R262H			Q9BQS2	SYT15_HUMAN	synaptotagmin XV		C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCAGATGACACGCCGGCAGTC	0.607													False	0	False	10:46965752	0	T	46965752	C	T	46965752	3	4	70	1	0	0	0	0	1	0	0	0	15553	536	19	1	550	1	SYT15	10	46965752	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08		46965752	88568995	42	5883											
PCDH15	65217	broad.mit.edu	37	chr10	55581883	55581885	+	In_Frame_Del	DEL	GTT	GTT	-													ggtctgttttacacactgtcGttgttgatagctgtgtcata					rs113363047		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	GTT	GTT	-	-	GTT	GTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr10:55581883_55581885delGTT	ENST00000361849.3	-	34	6001_6003	c.5607_5609delAAC	c.(5605-5610)acaacg>acg	p.1869_1870TT>T	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_In_Frame_Del_p.721_722TT>T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.1798_1799TT>T|PCDH15_ENST00000395433.1_In_Frame_Del_p.1844_1845TT>T|PCDH15_ENST00000395432.2_In_Frame_Del_p.1827_1828TT>T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.1867_1868TT>T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.1864_1865TT>T	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1867					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACACACTGTCGTTGTTGATAGCT	0.414										HNSCC(58;0.16)			False	2	False	10:55581883	0	-	55581885	GTT	-	55581883	7	5	70	1	0	1	0	1	0	0	0	0	11579	1145	40	0	1874	0	PCDH15	10	55581883	In_Frame_Del	DEL	GTT	TCGA-HZ-8636-01A-21D-2396-08	8616131	55581883	79952864	43	5884											
CDHR1	92211	broad.mit.edu	37	chr10	85974118	85974118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctcaaagagaaacctcCcaatgagaactgtaacaaca	6	11	1	2			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr10:85974118C>T	ENST00000372117.3	+	17	2424	c.2321C>T	c.(2320-2322)cCc>cTc	p.P774L	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.P478L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	774	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GAGAAACCTCCCAATGAGAAC	0.617													False	0	True	10:85974118	0	T	85974118	C	T	85974118	3	4	70	1	0	0	0	0	1	0	0	0	3141	623	22	2	2387	2	CDHR1	10	85974118	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	30392235	85974118	49560629	44	5885											
MUC5B	727897	broad.mit.edu	37	chr11	1250411	1250411	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttgcgcagcccggacctgcCccctcaacatgcagcaccag	9	18	1	0			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr11:1250411C>G	ENST00000447027.1	+	9	1046	c.988C>G	c.(988-990)Ccc>Gcc	p.P330A	MUC5B_ENST00000529681.1_Missense_Mutation_p.P330A|MUC5B_ENST00000531082.1_3'UTR			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	330	TIL 1.			PL -> T (in Ref. 2; AAC67545).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGACCTGCCCCCTCAACAT	0.687													False	0	True	11:1250411	0	G	1250411	C	G	1250411	3	3	70	1	0	0	0	0	1	0	0	0	10046	623	22	5	1022	5	MUC5B	11	1250411	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08		1250411	133756105	45	5886											
MUC5B	727897	broad.mit.edu	37	chr11	1262417	1262417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgccctgtggcccctcccCggccccaggcaccagccctc	10	23	0	0			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr11:1262417C>T	ENST00000447027.1	+	31	4374	c.4316C>T	c.(4315-4317)cCg>cTg	p.P1439L	MUC5B_ENST00000529681.1_Missense_Mutation_p.P1436L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1436	7 X Cys-rich subdomain repeats.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCCCCTCCCCGGCCCCAGGC	0.662													False	0	True	11:1262417	0	T	1262417	C	T	1262417	3	4	70	1	0	0	0	0	1	0	0	0	10046	652	23	1	4438	1	MUC5B	11	1262417	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	12006	1262417	133744099	46	5887											
PDE3B	5140	broad.mit.edu	37	chr11	14852384	14852385	+	Frame_Shift_Ins	INS	-	-	TTTACATG													agaggcacagagtgaacagcINSaaacaaatgtaaaagataaa							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr11:14852384_14852385insTTTACATG	ENST00000282096.4	+	8	2301_2302	c.1948_1949insTTTACATG	c.(1948-1950)caafs	p.Q650fs	PDE3B_ENST00000455098.2_Frame_Shift_Ins_p.Q599fs	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	650					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAGTGAACAGCAAACAAATGTA	0.327													False	0	True	11:14852384	0	TTTACATG	14852385	-	TTTACATG	14852384	7	5	70	1	0	1	1	0	0	0	0	0	11706	711	25	0	1978	0	PDE3B	11	14852384	Frame_Shift_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08	13589967	14852384	120154132	47	5888											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	70	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08		25398284	108453611	48	5889											
ATP12A	479	broad.mit.edu	37	chr13	25263488	25263488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaagcaccaacatcatgtCcagcttcaataagatgatcc	5	11	2	2			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr13:25263488C>T	ENST00000218548.6	+	5	854	c.521C>T	c.(520-522)tCc>tTc	p.S174F	ATP12A_ENST00000381946.3_Missense_Mutation_p.S174F	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	174					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AACATCATGTCCAGCTTCAAT	0.537													False	0	False	13:25263488	0	T	25263488	C	T	25263488	3	4	70	1	0	0	0	0	1	0	0	0	1126	855	30	2	539	2	ATP12A	13	25263488	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08		25263488	89906390	49	5890											
OSGEP	55644	broad.mit.edu	37	chr14	20916117	20916117	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacaatgtgccatggctcGctctgtgatctctaccagca	9	14	2	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:20916117G>A	ENST00000555656.1	-	4	2159	c.142C>T	c.(142-144)Cga>Tga	p.R48*	OSGEP_ENST00000554249.1_Nonsense_Mutation_p.R65*|OSGEP_ENST00000206542.4_Nonsense_Mutation_p.R247*			Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	247					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GCCATGGCTCGCTCTGTGATC	0.453													False	0	True	14:20916117	0	A	20916117	G	A	20916117	4	1	70	1	0	0	0	0	0	1	0	0	11355	1095	38	1	284	1	OSGEP	14	20916117	Nonsense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08		20916117	86433423	50	5891											
STRN3	29966	broad.mit.edu	37	chr14	31404475	31404475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctcagtatcaggatcGtcagttaggtcagcagctaa	10	10	4	0			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:31404475G>A	ENST00000355683.5	-	7	1097	c.882C>T	c.(880-882)gaC>gaT	p.D294D	STRN3_ENST00000357479.5_Silent_p.D294D	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	294					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TATCAGGATCGTCAGTTAGGT	0.398													False	0	False	14:31404475	0	A	31404475	G	A	31404475	2	1	70	1	0	0	0	0	0	0	0	1	15412	1136	40	1		1	STRN3	14	31404475	Silent	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	10488358	31404475	75945065	51	5892											
OTX2	5015	broad.mit.edu	37	chr14	57268475	57268475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaaacctggaatttccacGaggatgtctgatctttataa	7	8	2	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:57268475G>A	ENST00000339475.5	-	5	1148	c.872C>T	c.(871-873)tCg>tTg	p.S291L	OTX2_ENST00000555006.1_Missense_Mutation_p.S283L|OTX2_ENST00000408990.3_Missense_Mutation_p.S283L	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	283					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GAATTTCCACGAGGATGTCTG	0.408													False	0	False	14:57268475	0	A	57268475	G	A	57268475	3	1	70	1	0	0	0	0	1	0	0	0	11389	1059	37	1	25	1	OTX2	14	57268475	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	25864000	57268475	50081065	52	5893											
DAAM1	23002	broad.mit.edu	37	chr14	59834291	59834292	+	Frame_Shift_Ins	INS	-	-	TCAATGTTTCATGAGAATTCCACAATCAAATATAAAT													aaagaaaaaggaggaagaagINSaacgtcgagctcgcatggaa							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:59834291_59834292insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	ENST00000395125.1	+	24	3024_3025	c.3001_3002insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	c.(3001-3003)gaafs	p.E1001fs	DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.E1001fs|DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.E991fs|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1001	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GGAGGAAGAAGAACGTCGAGCT	0.411													False	0	True	14:59834291	0	TCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	59834292	-	TCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	59834291	7	5	70	1	0	1	1	0	0	0	0	0	4240	943	33	0	3095	0	DAAM1	14	59834291	Frame_Shift_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08	2565816	59834291	47515249	53	5894											
SERPINA9	327657	broad.mit.edu	37	chr14	94935764	94935766	+	In_Frame_Del	DEL	GAC	GAC	-													tgcagctgcagctccttcttGacgaagagggcacttcccat					rs78572173		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:94935764_94935766delGAC	ENST00000337425.5	-	2	540_542	c.466_468delGTC	c.(466-468)gtcdel	p.V156del	SERPINA9_ENST00000448305.2_In_Frame_Del_p.V58del|SERPINA9_ENST00000380365.3_In_Frame_Del_p.V138del|SERPINA9_ENST00000546329.1_In_Frame_Del_p.V120del|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000424550.2_In_Frame_Del_p.V7del	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	138					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCTCCTTCTTGACGAAGAGGGCA	0.522													False	1	False	14:94935764	0	-	94935766	GAC	-	94935764	7	5	70	1	0	1	0	1	0	0	0	0	14176	1277	45	0	855	0	SERPINA9	14	94935764	In_Frame_Del	DEL	GAC	TCGA-HZ-8636-01A-21D-2396-08	35101473	94935764	12413776	54	5895											
RYR3	6263	broad.mit.edu	37	chr15	34102719	34102719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggaagaagacaaagcggCggggagacttgtattccatc	14	8	0	3			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:34102719C>T	ENST00000389232.4	+	71	10136	c.10066C>T	c.(10066-10068)Cgg>Tgg	p.R3356W	RYR3_ENST00000415757.3_Missense_Mutation_p.R3351W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3356					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACAAAGCGGCGGGGAGACTT	0.512													False	0	True	15:34102719	0	T	34102719	C	T	34102719	3	4	70	1	0	0	0	0	1	0	0	0	13849	759	27	1	10348	1	RYR3	15	34102719	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08		34102719	68428673	55	5896											
DLL4	54567	broad.mit.edu	37	chr15	41224371	41224371	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgttcttcccttagctAtctgtctttcgggctgtcat	8	11	5	0			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:41224371A>T	ENST00000249749.5	+	5	937	c.661A>T	c.(661-663)Atc>Ttc	p.I221F		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	221	EGF-like 1.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCCCTTAGCTATCTGTCTTTC	0.577													False	0	False	15:41224371	0	T	41224371	A	T	41224371	3	4	70	1	0	0	0	0	1	0	0	0	4598	449	16	5	679	5	DLL4	15	41224371	Missense_Mutation	SNP	A	TCGA-HZ-8636-01A-21D-2396-08	7121652	41224371	61307021	56	5897											
TLN2	83660	broad.mit.edu	37	chr15	63089584	63089584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcagccagcctgggctccGacgaccccgagacccaggta	14	16	0	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:63089584G>A	ENST00000561311.1	+	47	6447	c.6217G>A	c.(6217-6219)Gac>Aac	p.D2073N	TLN2_ENST00000306829.6_Missense_Mutation_p.D2073N			Q9Y4G6	TLN2_HUMAN	talin 2	2073					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCTGGGCTCCGACGACCCCGA	0.672													False	0	False	15:63089584	0	A	63089584	G	A	63089584	3	1	70	1	0	0	0	0	1	0	0	0	16030	1058	37	1	6395	1	TLN2	15	63089584	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	21865213	63089584	39441808	57	5898											
IGDCC4	57722	broad.mit.edu	37	chr15	65703590	65703590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctggtggggggtccagcGgcagcagcccccaggctaca	15	15	0	0			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:65703590G>A	ENST00000352385.2	-	2	398	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	63	Ig-like C2-type 1.|Poly-Ala.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGGTCCAGCGGCAGCAGCCC	0.642													False	0	False	15:65703590	0	A	65703590	G	A	65703590	2	1	70	1	0	0	0	0	0	0	0	1	7619	1103	39	1		1	IGDCC4	15	65703590	Silent	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	2614006	65703590	36827802	58	5899											
HCN4	10021	broad.mit.edu	37	chr15	73614835	73614835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagctcatagattggatGgcagtttggagcgcactggc	14	10	1	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:73614835G>A	ENST00000261917.3	-	8	4592	c.3599C>T	c.(3598-3600)cCa>cTa	p.P1200L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1200					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TAGATTGGATGGCAGTTTGGA	0.542													False	0	False	15:73614835	0	A	73614835	G	A	73614835	3	1	70	1	0	0	0	0	1	0	0	0	7046	1348	47	2	16	2	HCN4	15	73614835	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	7911245	73614835	28916557	59	5900											
HCN4	10021	broad.mit.edu	37	chr15	73615826	73615826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggagtgggctcagtcCagcgggggcagagaatccag	19	9	1	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:73615826C>T	ENST00000261917.3	-	8	3601	c.2608G>A	c.(2608-2610)Gga>Aga	p.G870R		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	870					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGCTCAGTCCAGCGGGGGCA	0.697													False	0	False	15:73615826	0	T	73615826	C	T	73615826	3	4	70	1	0	0	0	0	1	0	0	0	7046	603	21	2	1007	2	HCN4	15	73615826	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	991	73615826	28915566	60	5901											
AKAP13	11214	broad.mit.edu	37	chr15	86118478	86118479	+	Frame_Shift_Ins	INS	-	-	CTTCG													acattaacctctgagtctgaINSttcacatcatgaacacccat							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:86118478_86118479insCTTCG	ENST00000394518.2	+	6	874_875	c.779_780insCTTCG	c.(778-783)gattcafs	p.S261fs	AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.S261fs	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	261					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCTGAGTCTGATTCACATCATG	0.416													False	0	False	15:86118478	0	CTTCG	86118479	-	CTTCG	86118478	7	5	70	1	0	1	1	0	0	0	0	0	449	333	12	0	797	0	AKAP13	15	86118478	Frame_Shift_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08	12502652	86118478	16412914	61	5902											
GPRC5B	0	broad.mit.edu	37	chr16	19883726	19883726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgccgcaccagcctccGcacgcgccatgcctggctca	10	20	1	0	rs149830893	by1000genomes	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:19883726G>A	ENST00000300571.2	-	2	633	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	GPRC5B_ENST00000537135.1_Missense_Mutation_p.R174W|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R148W|GPRC5B_ENST00000569479.1_Missense_Mutation_p.R148W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R148W	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	148										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACCAGCCTCCGCACGCGCCAT	0.677													False	0	False	16:19883726	0	A	19883726	G	A	19883726	3	1	70	1	0	0	0	0	1	0	0	0	6772	1086	38	1	781	1	GPRC5B	16	19883726	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08		19883726	70471027	62	5903											
VWA3A	146177	broad.mit.edu	37	chr16	22161152	22161158	+	Frame_Shift_Del	DEL	ACACGCT	ACACGCT	-													gagctttcagtcatggcaggAcacgctggtggagaccacag							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	ACACGCT	ACACGCT	-	-	ACACGCT	ACACGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:22161152_22161158delACACGCT	ENST00000389398.5	+	29	3125_3131	c.3029_3035delACACGCT	c.(3028-3036)gacacgctgfs	p.DTL1010fs	VWA3A_ENST00000563755.1_Frame_Shift_Del_p.DTL112fs|VWA3A_ENST00000389397.4_Frame_Shift_Del_p.DTL112fs	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1010	VWFA 2.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCATGGCAGGACACGCTGGTGGAGACC	0.546													False	1	False	16:22161152	0	-	22161158	ACACGCT	-	22161152	7	5	70	1	0	1	0	1	0	0	0	0	17324	275	10	0	3143	0	VWA3A	16	22161152	Frame_Shift_Del	DEL	ACACGCT	TCGA-HZ-8636-01A-21D-2396-08	2277426	22161152	68193601	63	5904											
GNAO1	2775	broad.mit.edu	37	chr16	56362667	56362667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatccaagagtgcttcaaccGgtcccgggagtatcagctca	10	12	3	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:56362667G>A	ENST00000262494.7	+	4	688	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	GNAO1_ENST00000262493.6_Missense_Mutation_p.R143Q	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	143					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGCTTCAACCGGTCCCGGGAG	0.607													False	0	False	16:56362667	0	A	56362667	G	A	56362667	3	1	70	1	0	0	0	0	1	0	0	0	6553	1116	39	1	442	1	GNAO1	16	56362667	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	34201515	56362667	33992086	64	5905											
BANP	54971	broad.mit.edu	37	chr16	88066732	88066732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagccgatgatgagcaccCcacctcctgccagcgagctc	10	17	0	3			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:88066732C>T	ENST00000393207.1	+	9	1278	c.1057C>T	c.(1057-1059)Cca>Tca	p.P353S	BANP_ENST00000393208.2_Missense_Mutation_p.P322S|BANP_ENST00000479780.2_Missense_Mutation_p.P322S|BANP_ENST00000355163.5_Missense_Mutation_p.P328S|BANP_ENST00000538234.1_Missense_Mutation_p.P361S|BANP_ENST00000286122.7_Missense_Mutation_p.P353S|BANP_ENST00000355022.4_Missense_Mutation_p.P322S	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	353	DNA-binding (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GATGAGCACCCCACCTCCTGC	0.647													False	0	True	16:88066732	0	T	88066732	C	T	88066732	3	4	70	1	0	0	0	0	1	0	0	0	1314	623	22	2	1129	2	BANP	16	88066732	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	31704065	88066732	2288021	65	5906											
NEURL4	84461	broad.mit.edu	37	chr17	7225225	7225225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctccttggtactgaagaCaaggccatgagcatagccag	11	11	0	3			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:7225225C>T	ENST00000399464.2	-	17	2845	c.2830G>A	c.(2830-2832)Gtc>Atc	p.V944I	NEURL4_ENST00000315614.7_Missense_Mutation_p.V942I|NEURL4_ENST00000570460.1_Missense_Mutation_p.V920I	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTACTGAAGACAAGGCCATGA	0.587													False	0	False	17:7225225	0	T	7225225	C	T	7225225	3	4	70	1	0	0	0	0	1	0	0	0	10415	478	17	2	1910	2	NEURL4	17	7225225	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08		7225225	73969985	66	5907											
ZBTB4	57659	broad.mit.edu	37	chr17	7366346	7366348	+	In_Frame_Del	DEL	TCA	TCA	-													caccagcctttgattcctccTcatcctcctcctcctcctct					rs78260319	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	TCA	TCA	-	-	TCA	TCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:7366346_7366348delTCA	ENST00000311403.4	-	4	2292_2294	c.1953_1955delTGA	c.(1951-1956)gatgag>gag	p.D651del	ZBTB4_ENST00000380599.4_In_Frame_Del_p.D651del	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	651	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TGATtcctcctcatcctcctcct	0.611													False	1	False	17:7366346	0	-	7366348	TCA	-	7366346	7	5	70	1	0	1	0	1	0	0	0	0	17624	1551	54	0	1090	0	ZBTB4	17	7366346	In_Frame_Del	DEL	TCA	TCGA-HZ-8636-01A-21D-2396-08	141121	7366346	73828864	67	5908											
TP53	7157	broad.mit.edu	37	chr17	7578411	7578412	+	In_Frame_Ins	INS	-	-	ACG													catggtgggggcagcgcctcINSacaacctccgtcatgtgctg							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:7578411_7578412insACG	ENST00000420246.2	-	5	650_651	c.518_519insCGT	c.(517-519)gtg>gtCGTg	p.173_173V>VV	TP53_ENST00000269305.4_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000359597.4_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000455263.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000445888.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_In_Frame_Ins_p.173_173V>VV	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173A(12)|p.V173V(8)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.V41fs*7(1)|p.E171fs*1(1)|p.V173W(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.R174fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAGCGCCTCACAACCTCCGT	0.658		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)			False	0	False	17:7578411	0	ACG	7578412	-	ACG	7578411	7	5	70	1	0	1	1	0	0	0	0	0	16464	813	29	0	779	0	TP53	17	7578411	In_Frame_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08	212065	7578411	73616799	68	5909											
BZRAP1	9256	broad.mit.edu	37	chr17	56390036	56390036	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtcatcatccgacacacgctCtacaaaattggaagggacca	8	12	3	0			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:56390036C>G	ENST00000355701.3	-	17	3016	c.2146G>C	c.(2146-2148)Gag>Cag	p.E716Q	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E656Q|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E716Q	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	716	SH3 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACACACGCTCTACAAAATTG	0.592													False	0	False	17:56390036	0	G	56390036	C	G	56390036	3	3	70	1	0	0	0	0	1	0	0	0	1584	922	32	5	3487	5	BZRAP1	17	56390036	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	48811625	56390036	24805174	69	5910											
BPTF	2186	broad.mit.edu	37	chr17	65908306	65908306	+	Frame_Shift_Del	DEL	G	G	-													gtagagtagtaagtggtaatGttgaaccaaaggttaataat							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:65908306delG	ENST00000306378.6	+	11	4366	c.4306delG	c.(4306-4308)gttfs	p.V1436fs	BPTF_ENST00000321892.4_Frame_Shift_Del_p.V1562fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.V1562fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.V1423fs	NM_182641.3	NP_872579.2	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1562					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGTGGTAATGTTGAACCAAA	0.274													False	1	False	17:65908306	0	-	65908306	G	-	65908306	7	5	70	1	0	1	0	1	0	0	0	0	1502	1377	48	0	4734	0	BPTF	17	65908306	Frame_Shift_Del	DEL	G	TCGA-HZ-8636-01A-21D-2396-08	9518270	65908306	15286904	70	5911											
OTOP3	347741	broad.mit.edu	37	chr17	72943167	72943167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagagagagctggacaCggtcaagaaccctacccgca	14	11	1	3	rs145029319		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:72943167C>T	ENST00000328801.4	+	6	1217	c.1217C>T	c.(1216-1218)aCg>aTg	p.T406M		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	406						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GAGCTGGACACGGTCAAGAAC	0.607													False	0	False	17:72943167	0	T	72943167	C	T	72943167	3	4	70	1	0	0	0	0	1	0	0	0	11375	536	19	1	1239	1	OTOP3	17	72943167	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	7034861	72943167	8252043	71	5912											
SALL3	27164	broad.mit.edu	37	chr18	76754689	76754689	+	Missense_Mutation	SNP	T	T	G													gccccgccctgtccgagtccTcgtcctcgcaggccctgtcg							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr18:76754689T>G	ENST00000536229.3	+	1	3008	c.2299T>G	c.(2299-2301)Tcg>Gcg	p.S767A	SALL3_ENST00000537592.2_Missense_Mutation_p.S900A|SALL3_ENST00000575389.2_Missense_Mutation_p.S900A			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	900					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCCGAGTCCTCGTCCTCGCA	0.731													False	0	True	18:76754689	0	G	76754689	T	G	76754689	3	3	70	1	0	0	0	0	1	0	0	0	13891	1551	54	4	2704	4	SALL3	18	76754689	Missense_Mutation	SNP	T	TCGA-HZ-8636-01A-21D-2396-08		76754689	1322559	72	5913	117	2									
SALL3	27164	broad.mit.edu	37	chr18	76754690	76754690	+	Nonsense_Mutation	SNP	C	C	A													ccccgccctgtccgagtcctCgtcctcgcaggccctgtcgc							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr18:76754690C>A	ENST00000536229.3	+	1	3009	c.2300C>A	c.(2299-2301)tCg>tAg	p.S767*	SALL3_ENST00000537592.2_Nonsense_Mutation_p.S900*|SALL3_ENST00000575389.2_Nonsense_Mutation_p.S900*			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	900					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCGAGTCCTCGTCCTCGCAG	0.731													False	0	True	18:76754690	0	A	76754690	C	A	76754690	4	1	70	1	0	0	0	0	0	1	0	0	13891	893	31	3	2705	3	SALL3	18	76754690	Nonsense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	1	76754690	1322558	73	5914	117	2									
ATP4A	495	broad.mit.edu	37	chr19	36050774	36050774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaagaagaccatggccCgcaggaaggtgtagccaatg	13	10	0	3			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:36050774C>T	ENST00000262623.3	-	7	1017	c.989G>A	c.(988-990)cGg>cAg	p.R330Q		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	330					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GACCATGGCCCGCAGGAAGGT	0.582													False	0	True	19:36050774	0	T	36050774	C	T	36050774	3	4	70	1	0	0	0	0	1	0	0	0	1149	652	23	1	2182	1	ATP4A	19	36050774	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08		36050774	23078209	74	5915											
ZNF628	89887	broad.mit.edu	37	chr19	55993096	55993096	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cgagcggccctacacctgtgGagtctgcgggaagagcttca	14	12	2	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:55993096G>C	ENST00000391718.2	+	3	1089	c.524G>C	c.(523-525)gGa>gCa	p.G175A	ZNF628_ENST00000598519.1_Missense_Mutation_p.G179A	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	175						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TACACCTGTGGAGTCTGCGGG	0.711													False	0	False	19:55993096	0	C	55993096	G	C	55993096	3	2	70	1	0	0	0	0	1	0	0	0	18135	1174	41	5	526	5	ZNF628	19	55993096	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	19942322	55993096	3135887	75	5916											
ZNF71	58491	broad.mit.edu	37	chr19	57133444	57133444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcgtgcaccagcgcacGcacaccggggagaagccgta	12	15	1	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:57133444G>A	ENST00000328070.6	+	3	1023	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	263						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACCAGCGCACGCACACCGGGG	0.677													False	0	True	19:57133444	0	A	57133444	G	A	57133444	2	1	70	1	0	0	0	0	0	0	0	1	18197	1074	38	1		1	ZNF71	19	57133444	Silent	SNP	G	TCGA-HZ-8636-01A-21D-2396-08	1140348	57133444	1995539	76	5917											
ZNF135	7694	broad.mit.edu	37	chr19	58578350	58578351	+	Frame_Shift_Ins	INS	-	-	TCTA													ggcagaggaatgggtttgggINSgaaaacataagtctgaaccc							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:58578350_58578351insTCTA	ENST00000506786.1	+	5	926_927	c.372_373insTCTA	c.(373-375)gaafs	p.E125fs	ZNF135_ENST00000401053.4_Frame_Shift_Ins_p.E191fs|ZNF135_ENST00000439855.2_Frame_Shift_Ins_p.E167fs|ZNF135_ENST00000511556.1_Frame_Shift_Ins_p.E179fs|ZNF135_ENST00000359978.6_Frame_Shift_Ins_p.E179fs|ZNF135_ENST00000313434.5_Frame_Shift_Ins_p.E167fs			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	179					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ATGGGTTTGGGGAAAACATAAG	0.54													False	0	True	19:58578350	0	TCTA	58578351	-	TCTA	58578350	7	5	70	1	0	1	1	0	0	0	0	0	17808	1219	43	0	701	0	ZNF135	19	58578350	Frame_Shift_Ins	INS	-	TCGA-HZ-8636-01A-21D-2396-08	1444906	58578350	550633	77	5918											
EPB41L1	2036	broad.mit.edu	37	chr20	34785959	34785959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcacccctgagaaagccaAtgaggtaggtgtcgccctga	14	11	0	3			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr20:34785959A>G	ENST00000338074.2	+	14	1825	c.1664A>G	c.(1663-1665)aAt>aGt	p.N555S	EPB41L1_ENST00000373950.2_Missense_Mutation_p.N446S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.N555S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.N481S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.N512S|EPB41L1_ENST00000441639.1_Missense_Mutation_p.N481S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	555					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GAGAAAGCCAATGAGGTAGGT	0.597													False	0	False	20:34785959	0	G	34785959	A	G	34785959	3	3	70	1	0	0	0	0	1	0	0	0	5184	101	4	4	1714	4	EPB41L1	20	34785959	Missense_Mutation	SNP	A	TCGA-HZ-8636-01A-21D-2396-08		34785959	28239561	78	5919											
ATP9A	10079	broad.mit.edu	37	chr20	50238628	50238635	+	Frame_Shift_Del	DEL	GATGTCTT	GATGTCTT	-													tttaccagccgaaaaacgtgGatgtcttggtttctggtcac							TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	GATGTCTT	GATGTCTT	-	-	GATGTCTT	GATGTCTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr20:50238628_50238635delGATGTCTT	ENST00000338821.5	-	19	2357_2364	c.2093_2100delAAGACATC	c.(2092-2100)caagacatcfs	p.QDI698fs	ATP9A_ENST00000311637.5_Frame_Shift_Del_p.QDI562fs|ATP9A_ENST00000402822.1_Frame_Shift_Del_p.QDI577fs	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	698					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAAAAACGTGGATGTCTTGGTTTCTGGT	0.51													False	1	False	20:50238628	0	-	50238635	GATGTCTT	-	50238628	7	5	70	1	0	1	0	1	0	0	0	0	1202	1164	41	0	1083	0	ATP9A	20	50238628	Frame_Shift_Del	DEL	GATGTCTT	TCGA-HZ-8636-01A-21D-2396-08	15452669	50238628	12786892	79	5920											
FTCD	10841	broad.mit.edu	37	chr21	47556871	47556871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggatgggcgagggaggggCcacagagcccggagaggcct	22	9	0	2			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr21:47556871C>T	ENST00000397748.1	-	14	1679	c.1636G>A	c.(1636-1638)Gcc>Acc	p.A546T	FTCD_ENST00000291670.5_Intron|FTCD_ENST00000397746.3_3'UTR|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000498355.2_Intron|FTCD_ENST00000359679.2_Missense_Mutation_p.A546T|FTCD_ENST00000355384.2_Intron			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	53					folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GAGGGAGGGGCCACAGAGCCC	0.697													False	0	True	21:47556871	0	T	47556871	C	T	47556871	3	4	70	1	0	0	0	0	1	0	0	0	6123	754	26	2		2	FTCD	21	47556871	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08		47556871	573024	80	5921											
CABIN1	23523	broad.mit.edu	37	chr22	24451432	24451432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaaaggattgatttgtcGgactaccaggaccccagcca	11	11	0	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr22:24451432G>A	ENST00000398319.2	+	9	1288	c.903G>A	c.(901-903)tcG>tcA	p.S301S	CABIN1_ENST00000263119.5_Silent_p.S301S|CABIN1_ENST00000405822.2_Silent_p.S251S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	301					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTGATTTGTCGGACTACCAGG	0.572													False	0	False	22:24451432	0	A	24451432	G	A	24451432	2	1	70	1	0	0	0	0	0	0	0	1	2548	1103	39	1		1	CABIN1	22	24451432	Silent	SNP	G	TCGA-HZ-8636-01A-21D-2396-08		24451432	26853134	81	5922											
HMGXB4	10042	broad.mit.edu	37	chr22	35689619	35689619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaacacattagacaacaTtgcttacatcatgccgggac	7	11	2	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr22:35689619T>C	ENST00000216106.5	+	11	1909	c.1781T>C	c.(1780-1782)aTt>aCt	p.I594T	HMGXB4_ENST00000444518.2_Missense_Mutation_p.I485T	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	594					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTAGACAACATTGCTTACATC	0.408													False	0	False	22:35689619	0	C	35689619	T	C	35689619	3	2	70	1	0	0	0	0	1	0	0	0	7286	1493	52	4	1819	4	HMGXB4	22	35689619	Missense_Mutation	SNP	T	TCGA-HZ-8636-01A-21D-2396-08	11238187	35689619	15614947	82	5923											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578651	37578651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaagaagcgcttctggcaCggggcgccggggctgcccat	17	13	1	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr22:37578651C>T	ENST00000337843.2	-	3	489	c.414G>A	c.(412-414)ccG>ccA	p.P138P	C1QTNF6_ENST00000255836.6_Intron|C1QTNF6_ENST00000470655.1_Intron|C1QTNF6_ENST00000397110.2_Silent_p.P138P|RP1-151B14.6_ENST00000419128.1_RNA	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	119	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GCTTCTGGCACGGGGCGCCGG	0.672													False	0	True	22:37578651	0	T	37578651	C	T	37578651	2	4	70	1	0	0	0	0	0	0	0	1	1982	523	19	1		1	C1QTNF6	22	37578651	Silent	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	1889032	37578651	13725915	83	5924											
DCAF8L2	347442	broad.mit.edu	37	chrX	27766141	27766141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacaattactgtgaatcccGccaatacctaccaatttgca	4	12	0	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:27766141G>A	ENST00000451261.2	+	5	1528	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGTGAATCCCGCCAATACCTA	0.408													False	0	True	X:27766141	0	A	27766141	G	A	27766141	3	1	70	1	0	0	0	0	1	0	0	0	4303	1087	38	1	1131	1	DCAF8L2	23	27766141	Missense_Mutation	SNP	G	TCGA-HZ-8636-01A-21D-2396-08		27766141	127504419	84	5925											
MAGEB1	4112	broad.mit.edu	37	chrX	30269599	30269599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcgtcgcactactgccaCgacttttagagcgcgttcta	10	13	1	1	rs145293151		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:30269599C>T	ENST00000378981.3	+	4	1310	c.989C>T	c.(988-990)aCg>aTg	p.T330M	MAGEB1_ENST00000397550.1_Missense_Mutation_p.T330M|MAGEB1_ENST00000397548.2_Missense_Mutation_p.T330M	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	330										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ACTACTGCCACGACTTTTAGA	0.527													False	0	False	X:30269599	0	T	30269599	C	T	30269599	3	4	70	1	0	0	0	0	1	0	0	0	9239	536	19	1	991	1	MAGEB1	23	30269599	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	2503458	30269599	125000961	85	5926											
SRPX2	27286	broad.mit.edu	37	chrX	99924269	99924269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctgtggactggatttgCggcatgtgaccatcattgaa	11	10	1	2			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:99924269C>T	ENST00000373004.3	+	10	1548	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	374					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ACTGGATTTGCGGCATGTGAC	0.552													False	0	False	X:99924269	0	T	99924269	C	T	99924269	3	4	70	1	0	0	0	0	1	0	0	0	15247	759	27	1	1154	1	SRPX2	23	99924269	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	69654670	99924269	55346291	86	5927											
SASH3	54440	broad.mit.edu	37	chrX	128927070	128927070	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatcatggatccacagcacCgggccaagctgctcacggcc	10	16	2	0	rs142835579		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:128927070C>A	ENST00000356892.3	+	7	1021	c.907C>A	c.(907-909)Cgg>Agg	p.R303R		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	303	SAM.							p.R303R(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						TCCACAGCACCGGGCCAAGCT	0.587													False	0	True	X:128927070	0	A	128927070	C	A	128927070	2	1	70	1	0	0	0	0	0	0	0	1	13929	643	23	3		3	SASH3	23	128927070	Silent	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	29002801	128927070	26343490	87	5928											
SPANXC	64663	broad.mit.edu	37	chrX	140335774	140335774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgttcttttcacgttcCtcctgtagcgaaccactagt	8	11	2	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:140335774C>T	ENST00000358993.2	-	2	208	c.170G>A	c.(169-171)aGg>aAg	p.R57K		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	57						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TTTCACGTTCCTCCTGTAGCG	0.502													False	0	False	X:140335774	0	T	140335774	C	T	140335774	3	4	70	1	0	0	0	0	1	0	0	0	15069	681	24	2	127	2	SPANXC	23	140335774	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	11408704	140335774	14934786	88	5929											
DNASE1L1	1774	broad.mit.edu	37	chrX	153631476	153631476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctccagcttgtccaggCgctttttggtcagtgaagcg	13	11	1	1			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:153631476C>T	ENST00000369809.1	-	9	1210	c.581G>A	c.(580-582)cGc>cAc	p.R194H	DNASE1L1_ENST00000393638.1_Missense_Mutation_p.R194H	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	194					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGTCCAGGCGCTTTTTGGT	0.612													False	0	False	X:153631476	0	T	153631476	C	T	153631476	3	4	70	1	0	0	0	0	1	0	0	0	4691	768	27	1	335	1	DNASE1L1	23	153631476	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	13295702	153631476	1639084	89	5930											
GAB3	139716	broad.mit.edu	37	chrX	153927709	153927709	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggtccaagaccagaggcaCcagcctgggggctcatgggc	17	12	1	2			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:153927709C>A	ENST00000369575.3	-	6	1233	c.1202G>T	c.(1201-1203)gGt>gTt	p.G401V	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.G402V	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	401										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACCAGAGGCACCAGCCTGGGG	0.547													False	0	False	X:153927709	0	A	153927709	C	A	153927709	3	1	70	1	0	0	0	0	1	0	0	0	6192	507	18	3	578	3	GAB3	23	153927709	Missense_Mutation	SNP	C	TCGA-HZ-8636-01A-21D-2396-08	296233	153927709	1342851	90	5931											
PARK7	0	broad.mit.edu	37	chr1	8031011	8031011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggaagggcctgatagccGccatctgtgcaggtgacgtg	15	11	1	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:8031011G>A	ENST00000493678.1	+	5	377	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	PARK7_ENST00000377488.1_Missense_Mutation_p.A104T|PARK7_ENST00000377493.5_Missense_Mutation_p.A84T|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377491.1_Missense_Mutation_p.A104T|PARK7_ENST00000338639.5_Missense_Mutation_p.A104T			Q99497	PARK7_HUMAN	parkinson protein 7	104			A -> T (in PARK7).		autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGATAGCCGCCATCTGTGC	0.488													False	0	False	1:8031011	0	A	8031011	G	A	8031011	3	1	71	1	0	0	0	0	1	0	0	0	11518	1087	38	1	324	1	PARK7	1	8031011	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		8031011	241219610	1	5932											
C1orf127	148345	broad.mit.edu	37	chr1	11008867	11008867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtctggcctcttctcgccGgtttggctgtttgcaggaat	12	10	3	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:11008867G>A	ENST00000377004.4	-	12	1324	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	C1orf127_ENST00000377008.4_Missense_Mutation_p.P275L	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	293										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TCTTCTCGCCGGTTTGGCTGT	0.577													False	0	False	1:11008867	0	A	11008867	G	A	11008867	3	1	71	1	0	0	0	0	1	0	0	0	2009	1116	39	1	1150	1	C1orf127	1	11008867	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	2977856	11008867	238241754	2	5933											
NUDC	10726	broad.mit.edu	37	chr1	27269375	27269375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgcagctggcggtcccttTctgtgtgaacttccggctga	12	11	1	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:27269375T>C	ENST00000321265.5	+	6	683	c.560T>C	c.(559-561)tTc>tCc	p.F187S		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	187	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GCGGTCCCTTTCTGTGTGAAC	0.617													False	0	True	1:27269375	0	C	27269375	T	C	27269375	3	2	71	1	0	0	0	0	1	0	0	0	10789	1783	62	4	582	4	NUDC	1	27269375	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	16260508	27269375	221981246	3	5934											
RPA2	6118	broad.mit.edu	37	chr1	28240575	28240575	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatactcctttcaacctactGatttcttttcggcttgagaa	5	10	2	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:28240575G>A	ENST00000373912.3	-	2	415	c.116C>T	c.(115-117)tCa>tTa	p.S39L	RPA2_ENST00000373909.3_Splice_Site_p.S47L|RPA2_ENST00000313433.7_Splice_Site_p.S127L	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	39	Arg/Lys-rich (basic).				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TCAACCTACTGATTTCTTTTC	0.493								Direct reversal of damage;Nucleotide excision repair (NER)					False	0	False	1:28240575	0	A	28240575	G	A	28240575	5	1	71	1	0	0	0	0	0	0	1	0	13616	1304	45	2	728	2	RPA2	1	28240575	Splice_Site	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	971200	28240575	221010046	4	5935											
PBXIP1	57326	broad.mit.edu	37	chr1	154918663	154918663	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctttcccggccagatTcttccttcttatgtttccag	5	14	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:154918663T>A	ENST00000368463.3	-	10	1558	c.1487A>T	c.(1486-1488)gAa>gTa	p.E496V	PBXIP1_ENST00000368465.1_Missense_Mutation_p.E467V|PBXIP1_ENST00000539880.1_Missense_Mutation_p.E323V|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E341V	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	496					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCGGCCAGATTCTTCCTTCTT	0.572													False	0	True	1:154918663	0	A	154918663	T	A	154918663	3	1	71	1	0	0	0	0	1	0	0	0	11564	1783	62	5	716	5	PBXIP1	1	154918663	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	126678088	154918663	94331958	5	5936											
ARHGEF11	9826	broad.mit.edu	37	chr1	156914928	156914928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaccgcttcattcacataCttgagaatctcccggcactg	6	13	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:156914928C>T	ENST00000368194.3	-	30	3913	c.2874G>A	c.(2872-2874)aaG>aaA	p.K958K	ARHGEF11_ENST00000361409.2_Silent_p.K918K|ARHGEF11_ENST00000315174.8_Silent_p.K334K|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	918					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CATTCACATACTTGAGAATCT	0.587													False	0	False	1:156914928	0	T	156914928	C	T	156914928	2	4	71	1	0	0	0	0	0	0	0	1	898	564	20	2		2	ARHGEF11	1	156914928	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	1996265	156914928	92335693	6	5937											
ASPM	259266	broad.mit.edu	37	chr1	197072159	197072159	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaatacctcgataccatctCtgaattataatagctgaagc	5	9	1	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:197072159C>T	ENST00000367409.4	-	18	6478	c.6222G>A	c.(6220-6222)caG>caA	p.Q2074Q	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2074	IQ 15.				mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2074Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATACCATCTCTGAATTATAA	0.323													False	0	False	1:197072159	0	T	197072159	C	T	197072159	2	4	71	1	0	0	0	0	0	0	0	1	1060	912	32	2		2	ASPM	1	197072159	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	40157231	197072159	52178462	7	5938											
LRRTM1	347730	broad.mit.edu	37	chr2	80530477	80530477	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcttccgcagcccgtggaaGaggtcgggcgcgagcgcctg	17	13	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:80530477G>T	ENST00000295057.3	-	2	1124	c.468C>A	c.(466-468)ctC>ctA	p.L156L	CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L156L|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	156						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCCCGTGGAAGAGGTCGGGCG	0.637										HNSCC(69;0.2)			False	0	False	2:80530477	0	T	80530477	G	T	80530477	2	4	71	1	0	0	0	0	0	0	0	1	9101	929	33	3		3	LRRTM1	2	80530477	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		80530477	162668896	8	5939											
SNRNP200	23020	broad.mit.edu	37	chr2	96943638	96943638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggttggtcttgacgtgCggatcattgaacttagggtt	14	6	2	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:96943638C>T	ENST00000323853.5	-	40	5738	c.5661G>A	c.(5659-5661)ccG>ccA	p.P1887P	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1887	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTTGACGTGCGGATCATTGA	0.498													False	0	False	2:96943638	0	T	96943638	C	T	96943638	2	4	71	1	0	0	0	0	0	0	0	1	14932	755	27	1		1	SNRNP200	2	96943638	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	16413161	96943638	146255735	9	5940											
RNF149	284996	broad.mit.edu	37	chr2	101898405	101898405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcaggggaggctgatggtgGactgctgtcatcacttccgt	15	9	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:101898405G>A	ENST00000295317.3	-	6	1182	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	359						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GCTGATGGTGGACTGCTGTCA	0.507													False	0	False	2:101898405	0	A	101898405	G	A	101898405	3	1	71	1	0	0	0	0	1	0	0	0	13529	1174	41	2	135	2	RNF149	2	101898405	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	4954767	101898405	141300968	10	5941											
SCN3A	6328	broad.mit.edu	37	chr2	165986734	165986734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaggtttcctagagcccCcacagaattgccaatgatct	10	11	1	4			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:165986734C>T	ENST00000360093.3	-	17	3129	c.2638G>A	c.(2638-2640)Ggg>Agg	p.G880R	SCN3A_ENST00000409101.3_Missense_Mutation_p.G831R|SCN3A_ENST00000283254.7_Missense_Mutation_p.G880R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	880						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCTAGAGCCCCCACAGAATTG	0.433													False	0	True	2:165986734	0	T	165986734	C	T	165986734	3	4	71	1	0	0	0	0	1	0	0	0	13999	623	22	2	3412	2	SCN3A	2	165986734	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	64088329	165986734	77212639	11	5942											
CSRNP3	80034	broad.mit.edu	37	chr2	166514474	166514474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcaggagaggctccacCgggagatgttgagagaacac	17	8	0	4			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:166514474C>T	ENST00000314499.7	+	5	728	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	CSRNP3_ENST00000409420.1_Missense_Mutation_p.R150W|CSRNP3_ENST00000342316.4_Missense_Mutation_p.R118W	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	118					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GAGGCTCCACCGGGAGATGTT	0.507													False	0	True	2:166514474	0	T	166514474	C	T	166514474	3	4	71	1	0	0	0	0	1	0	0	0	3990	643	23	1	358	1	CSRNP3	2	166514474	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	527740	166514474	76684899	12	5943											
ABCA12	26154	broad.mit.edu	37	chr2	216002880	216002880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccggctgcctttttacacCtagccaatttttccagacca	5	15	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:216002880C>T	ENST00000272895.7	-	1	271	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	ABCA12_ENST00000412081.1_Missense_Mutation_p.G18S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	18					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTTTACACCTAGCCAATTT	0.438													False	0	False	2:216002880	0	T	216002880	C	T	216002880	3	4	71	1	0	0	0	0	1	0	0	0	30	681	24	2	7978	2	ABCA12	2	216002880	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	49488406	216002880	27196493	13	5944											
FN1	2335	broad.mit.edu	37	chr2	216246983	216246983	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	actctctccgcttggattctGagcatagacactaaccacat	6	13	2	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:216246983G>C	ENST00000354785.4	-	32	5485	c.5116C>G	c.(5116-5118)Cag>Gag	p.Q1706E	FN1_ENST00000357009.2_Missense_Mutation_p.Q1615E|FN1_ENST00000443816.1_Missense_Mutation_p.Q1615E|FN1_ENST00000323926.6_Missense_Mutation_p.Q1706E|FN1_ENST00000357867.4_Missense_Mutation_p.Q1615E|FN1_ENST00000356005.4_Missense_Mutation_p.Q1615E|FN1_ENST00000336916.4_Missense_Mutation_p.Q1615E|FN1_ENST00000432072.2_Missense_Mutation_p.Q1706E|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000346544.3_Missense_Mutation_p.Q1615E|FN1_ENST00000421182.1_Missense_Mutation_p.Q1615E|FN1_ENST00000345488.5_Missense_Mutation_p.Q1615E|FN1_ENST00000446046.1_Missense_Mutation_p.Q1615E|FN1_ENST00000359671.1_Missense_Mutation_p.Q1615E			P02751	FINC_HUMAN	fibronectin 1	1705	Fibronectin type-III 12; extra domain.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGGATTCTGAGCATAGACA	0.448													False	0	False	2:216246983	0	C	216246983	G	C	216246983	3	2	71	1	0	0	0	0	1	0	0	0	6002	1299	45	5	2377	5	FN1	2	216246983	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	244103	216246983	26952390	14	5945											
COL4A4	1286	broad.mit.edu	37	chr2	227945177	227945177	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggaggtcctggatccccTttttctccagcatgtccatc	8	14	1	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:227945177T>C	ENST00000396625.3	-	24	1992	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	COL4A4_ENST00000329662.7_Silent_p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	595	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGATCCCCTTTTTCTCCAG	0.463													False	0	True	2:227945177	0	C	227945177	T	C	227945177	2	2	71	1	0	0	0	0	0	0	0	1	3716	1606	56	4		4	COL4A4	2	227945177	Silent	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	11698194	227945177	15254196	15	5946											
ALPPL2	251	broad.mit.edu	37	chr2	233273223	233273223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcagggtgcccggtacGtgtggaaccgcactgagctc	14	15	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:233273223G>A	ENST00000295453.3	+	7	848	c.796G>A	c.(796-798)Gtg>Atg	p.V266M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	266					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TGCCCGGTACGTGTGGAACCG	0.677													False	0	False	2:233273223	0	A	233273223	G	A	233273223	3	1	71	1	0	0	0	0	1	0	0	0	549	1145	40	1	822	1	ALPPL2	2	233273223	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	5328046	233273223	9926150	16	5947											
FANCD2	2177	broad.mit.edu	37	chr3	10115018	10115018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattcagaatgtgaccctaCgccatctcatagaggccagc	8	12	2	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:10115018C>T	ENST00000287647.3	+	28	2780	c.2687C>T	c.(2686-2688)aCg>aTg	p.T896M	FANCD2_ENST00000419585.1_Missense_Mutation_p.T896M|FANCD2_ENST00000383807.1_Missense_Mutation_p.T896M|FANCD2_ENST00000383806.1_Missense_Mutation_p.T896M	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	896					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGTGACCCTACGCCATCTCAT	0.398			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	3:10115018	0	T	10115018	C	T	10115018	3	4	71	1	0	0	0	0	1	0	0	0	5705	536	19	1	2793	1	FANCD2	3	10115018	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08		10115018	187907412	17	5948											
TRANK1	9881	broad.mit.edu	37	chr3	36872996	36872996	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgccagttcatccatcTcatcctggccaaactcacac	4	16	3	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:36872996T>A	ENST00000429976.2	-	21	8193	c.7946A>T	c.(7945-7947)gAg>gTg	p.E2649V	TRANK1_ENST00000301807.6_Missense_Mutation_p.E2099V|TRANK1_ENST00000428977.2_Missense_Mutation_p.E2099V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2649					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCATCCATCTCATCCTGGCC	0.532													False	0	True	3:36872996	0	A	36872996	T	A	36872996	3	1	71	1	0	0	0	0	1	0	0	0	16537	1551	54	5	843	5	TRANK1	3	36872996	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	26757978	36872996	161149434	18	5949											
GRM2	2912	broad.mit.edu	37	chr3	51743379	51743379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccccgacggctcttatgCgacccatggtgatgctccca	10	16	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:51743379C>T	ENST00000395052.3	+	2	614	c.380C>T	c.(379-381)gCg>gTg	p.A127V	GRM2_ENST00000442933.2_Missense_Mutation_p.A127V|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	127					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGCTCTTATGCGACCCATGGT	0.587													False	0	False	3:51743379	0	T	51743379	C	T	51743379	3	4	71	1	0	0	0	0	1	0	0	0	6844	768	27	1	382	1	GRM2	3	51743379	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	14870383	51743379	146279051	19	5950											
BAP1	8314	broad.mit.edu	37	chr3	52441425	52441426	+	Frame_Shift_Ins	INS	-	-	TTTACCCAGCACCTGTCCAGTGAAACAACTTG													cccacacacctggcatggctINSattatgggccttggccaact							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:52441425_52441426insTTTACCCAGCACCTGTCCAGTGAAACAACTTG	ENST00000460680.1	-	6	897_898	c.426_427insCAAGTTGTTTCACTGGACAGGTGCTGGGTAAA	c.(424-429)aatagcfs	p.S143fs	BAP1_ENST00000296288.5_Frame_Shift_Ins_p.S143fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	143					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGGCATGGCTATTATGGGCCT	0.54			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							False	0	False	3:52441425	0	TTTACCCAGCACCTGTCCAGTGAAACAACTTG	52441426	-	TTTACCCAGCACCTGTCCAGTGAAACAACTTG	52441425	7	5	71	1	0	1	1	0	0	0	0	0	1315	1522	53	0	1810	0	BAP1	3	52441425	Frame_Shift_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08	698046	52441425	145581005	20	5951											
EPHA3	2042	broad.mit.edu	37	chr3	89445093	89445093	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gggatcatattggactacgaGgtcaaatactatgaaaaggt	11	5	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:89445093G>C	ENST00000336596.2	+	6	1638	c.1413G>C	c.(1411-1413)gaG>gaC	p.E471D	EPHA3_ENST00000452448.2_Missense_Mutation_p.E471D|EPHA3_ENST00000494014.1_Missense_Mutation_p.E471D	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	471	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGACTACGAGGTCAAATACT	0.448										TSP Lung(6;0.00050)			False	0	False	3:89445093	0	C	89445093	G	C	89445093	3	2	71	1	0	0	0	0	1	0	0	0	5200	991	35	5	1435	5	EPHA3	3	89445093	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	37003668	89445093	108577337	21	5952											
MYH15	22989	broad.mit.edu	37	chr3	108129678	108129678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacagggcgtccccgagcTccagctgcagctggtgcctg	14	15	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:108129678T>C	ENST00000273353.3	-	32	4363	c.4307A>G	c.(4306-4308)gAg>gGg	p.E1436G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1436						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTCCCCGAGCTCCAGCTGCAG	0.627													False	0	False	3:108129678	0	C	108129678	T	C	108129678	3	2	71	1	0	0	0	0	1	0	0	0	10101	1551	54	4	1577	4	MYH15	3	108129678	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	18684585	108129678	89892752	22	5953											
PLXNA1	5361	broad.mit.edu	37	chr3	126736303	126736303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgacaccaccatggtatgCcgcgccccgtctgtggccaa	10	15	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:126736303C>T	ENST00000251772.4	+	17	3312	c.3243C>T	c.(3241-3243)tgC>tgT	p.C1081C	PLXNA1_ENST00000393409.2_Silent_p.C1104C			Q9UIW2	PLXA1_HUMAN	plexin A1	1104	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCATGGTATGCCGCGCCCCGT	0.677													False	0	False	3:126736303	0	T	126736303	C	T	126736303	2	4	71	1	0	0	0	0	0	0	0	1	12188	747	26	2		2	PLXNA1	3	126736303	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	18606625	126736303	71286127	23	5954											
ACAP2	23527	broad.mit.edu	37	chr3	195022345	195022345	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtctaaagttaaagatcGtacttttgaaaaatgaaccc	8	6	1	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:195022345G>A	ENST00000326793.6	-	15	1584	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	452	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GTTAAAGATCGTACTTTTGAA	0.328													False	0	False	3:195022345	0	A	195022345	G	A	195022345	4	1	71	1	0	0	0	0	0	1	0	0	119	1153	40	1	1018	1	ACAP2	3	195022345	Nonsense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	68286042	195022345	3000085	24	5955											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	71	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-HZ-8637-01A-11D-2396-08		40434705	150719571	25	5956											
FAT1	2195	broad.mit.edu	37	chr4	187629556	187629556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagtagtaccaatgggcaCgttctcatcaaaagcagctt	9	10	2	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:187629556C>T	ENST00000441802.2	-	2	1635	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	476	Cadherin 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCAATGGGCACGTTCTCATCA	0.478										HNSCC(5;0.00058)			False	0	False	4:187629556	0	T	187629556	C	T	187629556	3	4	71	1	0	0	0	0	1	0	0	0	5729	536	19	1	12444	1	FAT1	4	187629556	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	147194851	187629556	3524720	26	5957											
AHRR	57491	broad.mit.edu	37	chr5	424055	424055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccgctgcttcatctgccGtgtgcgctgcctgctggaca	12	15	2	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:424055G>A	ENST00000316418.5	+	7	727	c.683G>A	c.(682-684)cGt>cAt	p.R228H	AHRR_ENST00000512529.1_Missense_Mutation_p.R74H|AHRR_ENST00000506456.1_Missense_Mutation_p.R84H|AHRR_ENST00000505113.1_Missense_Mutation_p.R228H	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TTCATCTGCCGTGTGCGCTGC	0.662													False	0	False	5:424055	0	A	424055	G	A	424055	3	1	71	1	0	0	0	0	1	0	0	0	417	1145	40	1	709	1	AHRR	5	424055	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		424055	180491205	27	5958											
IRX4	50805	broad.mit.edu	37	chr5	1879903	1879903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgtgctggtggtctcgcGcgtggcgttcttgcgccgcg	18	12	2	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:1879903G>A	ENST00000505790.1	-	5	907	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.R151C|IRX4_ENST00000513692.1_Missense_Mutation_p.R151C	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	151					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GTGGTCTCGCGCGTGGCGTTC	0.637													False	0	True	5:1879903	0	A	1879903	G	A	1879903	3	1	71	1	0	0	0	0	1	0	0	0	7896	1087	38	1	1116	1	IRX4	5	1879903	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	1455848	1879903	179035357	28	5959											
DMGDH	29958	broad.mit.edu	37	chr5	78325780	78325780	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaaagaaactccccaggAgattggtgagaaacagtcag	10	7	1	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:78325780A>C	ENST00000255189.3	-	11	1789	c.1761T>G	c.(1759-1761)tcT>tcG	p.S587S	DMGDH_ENST00000540686.1_Silent_p.S207S|DMGDH_ENST00000380311.4_Silent_p.S386S	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	587					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACTCCCCAGGAGATTGGTGAG	0.353													False	0	False	5:78325780	0	C	78325780	A	C	78325780	2	2	71	1	0	0	0	0	0	0	0	1	4611	291	11	4		4	DMGDH	5	78325780	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08	76445877	78325780	102589480	29	5960											
SNX2	6643	broad.mit.edu	37	chr5	122152644	122152644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatacacaggctctgagtgGagcaggaatattgaggatgg	14	5	1	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:122152644G>A	ENST00000379516.2	+	9	941	c.833G>A	c.(832-834)gGa>gAa	p.G278E	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.G161E	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	278					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GCTCTGAGTGGAGCAGGAATA	0.443													False	0	False	5:122152644	0	A	122152644	G	A	122152644	3	1	71	1	0	0	0	0	1	0	0	0	14971	1174	41	2	867	2	SNX2	5	122152644	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	43826864	122152644	58762616	30	5961											
PCDHB8	0	broad.mit.edu	37	chr5	140559337	140559337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggctccgcgccctgcacCgagctggtgccccgggcggc	15	17	0	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:140559337C>T	ENST00000239444.2	+	1	1967	c.1722C>T	c.(1720-1722)acC>acT	p.T574T		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		574	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGCACCGAGCTGGTGC	0.701													False	0	False	5:140559337	0	T	140559337	C	T	140559337	2	4	71	1	0	0	0	0	0	0	0	1	11616	639	23	1		1	PCDHB8	5	140559337	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	18406693	140559337	40355923	31	5962											
POU4F3	5459	broad.mit.edu	37	chr5	145719395	145719395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagcggcctgggcgctccGgaacactcggtgatgcccgc	16	14	0	2	rs145372405	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:145719395G>A	ENST00000230732.4	+	2	494	c.405G>A	c.(403-405)ccG>ccA	p.P135P	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	135					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGCGCTCCGGAACACTCGG	0.687													False	0	False	5:145719395	0	A	145719395	G	A	145719395	2	1	71	1	0	0	0	0	0	0	0	1	12349	1103	39	1		1	POU4F3	5	145719395	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	5160058	145719395	35195865	32	5963											
TCERG1	10915	broad.mit.edu	37	chr5	145826931	145826931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taatggcggagcgtggcgggGacgggggcgagagtgaacga	22	6	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:145826931G>T	ENST00000296702.5	+	1	57	c.19G>T	c.(19-21)Gac>Tac	p.D7Y	TCERG1_ENST00000394421.2_Missense_Mutation_p.D7Y	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	7					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGTGGCGGGGACGGGGGCGA	0.617											OREG0016896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	5:145826931	0	T	145826931	G	T	145826931	3	4	71	1	0	0	0	0	1	0	0	0	15767	1174	41	3	21	3	TCERG1	5	145826931	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	107536	145826931	35088329	33	5964											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	71	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-HZ-8637-01A-11D-2396-08		7393450	163721617	34	5965											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114417	27114417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccttagaggagatgCcggtgtcggggtggacctgc	17	10	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:27114417C>T	ENST00000396891.4	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G54D	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAGGAGATGCCGGTGTCGGG	0.582													False	0	False	6:27114417	0	T	27114417	C	T	27114417	3	4	71	1	0	0	0	0	1	0	0	0	7197	739	26	2	223	2	HIST1H2BK	6	27114417	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	19720967	27114417	144000650	35	5966											
GPR6	0	broad.mit.edu	37	chr6	110300379	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-													tagtggcggccgaaggagcgGcggcggcggccacagcagca							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:110300379_110300435delGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	82_138	c.64_120delGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(64-120)gcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAATAAGGPDTGEWGPPA22del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAATAAGGPDTGEWGPPA37del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	22	Poly-Ala.					integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		cgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712													False	1	False	6:110300379	0	-	110300435	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	110300379	7	5	71	1	0	1	0	1	0	0	0	0	6747	1203	42	0	66	0	GPR6	6	110300379	In_Frame_Del	DEL	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	TCGA-HZ-8637-01A-11D-2396-08	83185962	110300379	60814688	36	5967											
STX11	8676	broad.mit.edu	37	chr6	144508554	144508554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggccaaggcgcaggtgCggaaggccgtgcagtacgag	18	11	0	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:144508554C>T	ENST00000367568.4	+	2	973	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	264	t-SNARE coiled-coil homology.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GGCGCAGGTGCGGAAGGCCGT	0.662									Familial Hemophagocytic Lymphohistiocytosis				False	0	False	6:144508554	0	T	144508554	C	T	144508554	3	4	71	1	0	0	0	0	1	0	0	0	15419	759	27	1	792	1	STX11	6	144508554	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	34208175	144508554	26606513	37	5968											
SYNE1	23345	broad.mit.edu	37	chr6	152749427	152749427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtattgctgctgtagagccGcagcctcctgaacacaggaa	11	12	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:152749427G>A	ENST00000367255.5	-	37	5490	c.4889C>T	c.(4888-4890)gCg>gTg	p.A1630V	SYNE1_ENST00000265368.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1700V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1637V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1630					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGTAGAGCCGCAGCCTCCTG	0.587										HNSCC(10;0.0054)			False	0	False	6:152749427	0	A	152749427	G	A	152749427	3	1	71	1	0	0	0	0	1	0	0	0	15527	1087	38	1	22017	1	SYNE1	6	152749427	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	8240873	152749427	18365640	38	5969											
HECW1	23072	broad.mit.edu	37	chr7	43351558	43351558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgacactgacctggtcacctCggacagccgctccacgctca	9	18	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:43351558C>T	ENST00000395891.2	+	4	829	c.224C>T	c.(223-225)tCg>tTg	p.S75L	HECW1_ENST00000453890.1_Missense_Mutation_p.S75L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGGTCACCTCGGACAGCCGC	0.612													False	0	False	7:43351558	0	T	43351558	C	T	43351558	3	4	71	1	0	0	0	0	1	0	0	0	7089	893	31	1	230	1	HECW1	7	43351558	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08		43351558	115787105	39	5970											
FGL2	10875	broad.mit.edu	37	chr7	76828879	76828881	+	In_Frame_Del	DEL	CCT	CCT	-													gttttggacttctttgaacaCctcctcgatcctgctgaatt							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:76828879_76828881delCCT	ENST00000248598.5	-	1	262_264	c.230_232delAGG	c.(229-234)gaggtg>gtg	p.E77del	CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	77					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCTTTGAACACCTCCTCGATCCT	0.517													False	2	False	7:76828879	0	-	76828881	CCT	-	76828879	7	5	71	1	0	1	0	1	0	0	0	0	5913	507	18	0	1095	0	FGL2	7	76828879	In_Frame_Del	DEL	CCT	TCGA-HZ-8637-01A-11D-2396-08	33477321	76828879	82309784	40	5971											
COL1A2	1278	broad.mit.edu	37	chr7	94050355	94050355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggtcctgctggaagtcGtggtgatggaggcccccctg	15	14	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:94050355G>A	ENST00000297268.6	+	38	2801	c.2330G>A	c.(2329-2331)cGt>cAt	p.R777H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	777			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCTGGAAGTCGTGGTGATGGA	0.423										HNSCC(75;0.22)			False	0	False	7:94050355	0	A	94050355	G	A	94050355	3	1	71	1	0	0	0	0	1	0	0	0	3701	1145	40	1	2480	1	COL1A2	7	94050355	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	17221476	94050355	65088308	41	5972											
PTPRZ1	5803	broad.mit.edu	37	chr7	121694078	121694078	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactggtggttatgattcctGatggccaaaacatggtaagt	11	6	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:121694078G>A	ENST00000393386.2	+	26	6778	c.6367G>A	c.(6367-6369)Gat>Aat	p.D2123N	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D1256N	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2123	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TATGATTCCTGATGGCCAAAA	0.428													False	0	False	7:121694078	0	A	121694078	G	A	121694078	3	1	71	1	0	0	0	0	1	0	0	0	12893	1290	45	2	6469	2	PTPRZ1	7	121694078	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	27643723	121694078	37444585	42	5973											
KCNU1	157855	broad.mit.edu	37	chr8	36788639	36788639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcttctgtccttacaCgaaaccattttatcagacgt	8	11	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:36788639C>T	ENST00000399881.3	+	25	2944	c.2907C>T	c.(2905-2907)caC>caT	p.H969H	KCNU1_ENST00000518904.1_3'UTR	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	969						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.H969H(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGTCCTTACACGAAACCATTT	0.418													False	0	False	8:36788639	0	T	36788639	C	T	36788639	2	4	71	1	0	0	0	0	0	0	0	1	8143	535	19	1		1	KCNU1	8	36788639	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08		36788639	109575383	43	5974											
ST18	9705	broad.mit.edu	37	chr8	53062293	53062293	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacatatggaaacaataccTctttctcctcctctgtcttc	4	13	4	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:53062293T>C	ENST00000276480.7	-	16	2734	c.2051A>G	c.(2050-2052)gAg>gGg	p.E684G		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	684						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AAACAATACCTCTTTCTCCTC	0.418													False	0	False	8:53062293	0	C	53062293	T	C	53062293	5	2	71	1	0	0	0	0	0	0	1	0	15294	1565	54	4	1136	4	ST18	8	53062293	Splice_Site	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	16273654	53062293	93301729	44	5975											
CHD7	55636	broad.mit.edu	37	chr8	61757622	61757622	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccttggtcaaccattccGgtaggtctccaccatgctgt	10	13	2	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:61757622G>A	ENST00000423902.2	+	22	5529	c.5050G>A	c.(5050-5052)Ggt>Agt	p.G1684S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1684					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAACCATTCCGGTAGGTCTCC	0.458													False	0	False	8:61757622	0	A	61757622	G	A	61757622	5	1	71	1	0	0	0	0	0	0	1	0	3353	1130	39	1	5132	1	CHD7	8	61757622	Splice_Site	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	8695329	61757622	84606400	45	5976											
RNF19A	25897	broad.mit.edu	37	chr8	101299991	101299991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatctgtctttagaatgccGcaaaaggcacaaagggcact	9	9	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:101299991G>A	ENST00000519449.1	-	3	728	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	138					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TTAGAATGCCGCAAAAGGCAC	0.373													False	0	False	8:101299991	0	A	101299991	G	A	101299991	3	1	71	1	0	0	0	0	1	0	0	0	13549	1086	38	1	2140	1	RNF19A	8	101299991	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	39542369	101299991	45064031	46	5977											
BAI1	575	broad.mit.edu	37	chr8	143599550	143599550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcatcgtgggctgtggcGtgtcctctctcaccctgctc	11	16	3	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:143599550G>A	ENST00000517894.1	+	19	3763	c.2869G>A	c.(2869-2871)Gtg>Atg	p.V957M	BAI1_ENST00000323289.5_Missense_Mutation_p.V957M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	957					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGCTGTGGCGTGTCCTCTCT	0.642													False	0	False	8:143599550	0	A	143599550	G	A	143599550	3	1	71	1	0	0	0	0	1	0	0	0	1302	1145	40	1	2939	1	BAI1	8	143599550	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	42299559	143599550	2764472	47	5978											
EPPK1	83481	broad.mit.edu	37	chr8	144940695	144940697	+	In_Frame_Del	DEL	TCT	TCT	-													catggcctggtagatgctcaTcttctcctggcggccgggct							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:144940695_144940697delTCT	ENST00000525985.1	-	2	6796_6798	c.6725_6727delAGA	c.(6724-6729)aagatg>atg	p.K2242del				P58107	EPIPL_HUMAN	epiplakin 1	2242						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGATGCTCATCTTCTCCTGGCG	0.704													False	2	False	8:144940695	0	-	144940697	TCT	-	144940695	7	5	71	1	0	1	0	1	0	0	0	0	5222	1435	50	0	539	0	EPPK1	8	144940695	In_Frame_Del	DEL	TCT	TCGA-HZ-8637-01A-11D-2396-08	1341145	144940695	1423327	48	5979											
IFNA7	3444	broad.mit.edu	37	chr9	21201878	21201878	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgttcccaagcagcagatGagtcctctgtgctgaagaga	11	10	2	4			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:21201878G>T	ENST00000239347.3	-	1	326	c.287C>A	c.(286-288)tCa>tAa	p.S96*		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	96					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGCAGCAGATGAGTCCTCTGT	0.493													False	0	False	9:21201878	0	T	21201878	G	T	21201878	4	4	71	1	0	0	0	0	0	1	0	0	7592	1294	45	3	286	3	IFNA7	9	21201878	Nonsense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		21201878	120011553	49	5980											
PRUNE2	158471	broad.mit.edu	37	chr9	79318999	79318999	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttcttccaattctgaTatttccttgctggcacctag	5	11	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:79318999T>C	ENST00000428286.1	-	9	7653	c.6453A>G	c.(6451-6453)atA>atG	p.I2151M	PRUNE2_ENST00000376718.3_Missense_Mutation_p.I2510M			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2510					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCAATTCTGATATTTCCTTGC	0.363													False	0	False	9:79318999	0	C	79318999	T	C	79318999	3	2	71	1	0	0	0	0	1	0	0	0	12717	1396	49	4	1780	4	PRUNE2	9	79318999	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	58117121	79318999	61894432	50	5981											
NTRK2	4915	broad.mit.edu	37	chr9	87338511	87338511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatctgcaaatctggccGcacctaacctcactgtggag	9	14	3	0	rs117250170	by1000genomes	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:87338511G>A	ENST00000304053.6	+	7	1090	c.607G>A	c.(607-609)Gca>Aca	p.A203T	NTRK2_ENST00000323115.4_Missense_Mutation_p.A203T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A203T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A203T|NTRK2_ENST00000395882.1_Missense_Mutation_p.A203T|NTRK2_ENST00000395866.2_Missense_Mutation_p.A47T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A203T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A203T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A203T	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	203	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AAATCTGGCCGCACCTAACCT	0.398										TSP Lung(25;0.17)			False	0	False	9:87338511	0	A	87338511	G	A	87338511	3	1	71	1	0	0	0	0	1	0	0	0	10775	1087	38	1	629	1	NTRK2	9	87338511	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	8019512	87338511	53874920	51	5982											
ZNF462	58499	broad.mit.edu	37	chr9	109686870	109686870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcagaggttgtggagcGcagcatcttagagtctatgg	15	8	2	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:109686870G>A	ENST00000277225.5	+	3	966	c.677G>A	c.(676-678)cGc>cAc	p.R226H	ZNF462_ENST00000457913.1_Missense_Mutation_p.R226H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	226					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTTGTGGAGCGCAGCATCTTA	0.582													False	0	False	9:109686870	0	A	109686870	G	A	109686870	3	1	71	1	0	0	0	0	1	0	0	0	18009	1087	38	1	683	1	ZNF462	9	109686870	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	22348359	109686870	31526561	52	5983											
ADAMTS14	140766	broad.mit.edu	37	chr10	72489912	72489912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcctggagcaggtgtgtCgctgggcacactcccagcag	15	13	0	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:72489912C>T	ENST00000373208.1	+	6	1009	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R337C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	337	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCAGGTGTGTCGCTGGGCACA	0.667													False	0	True	10:72489912	0	T	72489912	C	T	72489912	3	4	71	1	0	0	0	0	1	0	0	0	259	884	31	1	1031	1	ADAMTS14	10	72489912	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08		72489912	63044835	53	5984											
DNTT	1791	broad.mit.edu	37	chr10	98097935	98097935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgaagaagaaatttttgCgcatctgggattggattata	11	3	1	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:98097935C>T	ENST00000419175.1	+	11	1651	c.1481C>T	c.(1480-1482)gCg>gTg	p.A494V	DNTT_ENST00000371174.2_Missense_Mutation_p.A495V	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	495	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAATTTTTGCGCATCTGGGA	0.333													False	0	False	10:98097935	0	T	98097935	C	T	98097935	3	4	71	1	0	0	0	0	1	0	0	0	4710	768	27	1	1526	1	DNTT	10	98097935	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	25608023	98097935	37436812	54	5985											
CTR9	9646	broad.mit.edu	37	chr11	10776660	10776660	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaacaggctcggaaagaAaagaataaggacaataaaaa	9	5	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:10776660A>G	ENST00000361367.2	+	3	726	c.300A>G	c.(298-300)gaA>gaG	p.E100E		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	100					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTCGGAAAGAAAAGAATAAGG	0.358													False	0	True	11:10776660	0	G	10776660	A	G	10776660	2	3	71	1	0	0	0	0	0	0	0	1	4049	11	1	4		4	CTR9	11	10776660	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08		10776660	124229856	55	5986											
OR4C11	219429	broad.mit.edu	37	chr11	55371698	55371698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatggggcttcctagtgtcCggctggacttgatggtcaca	13	10	1	1	rs140943798	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:55371698C>T	ENST00000302231.4	-	1	176	c.152G>A	c.(151-153)cGg>cAg	p.R51Q		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCCTAGTGTCCGGCTGGACTT	0.408													False	0	False	11:55371698	0	T	55371698	C	T	55371698	3	4	71	1	0	0	0	0	1	0	0	0	11113	652	23	1	782	1	OR4C11	11	55371698	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	44595038	55371698	79634818	56	5987											
HTR3A	3359	broad.mit.edu	37	chr11	113857759	113857759	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccaagccaccaagactgatGactgctcaggtgagaaacag	10	12	1	4			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:113857759G>A	ENST00000504030.2	+	8	1574	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	HTR3A_ENST00000299961.5_Missense_Mutation_p.D362N|HTR3A_ENST00000506841.2_Missense_Mutation_p.D409N|HTR3A_ENST00000375498.2_Missense_Mutation_p.D383N|HTR3A_ENST00000355556.2_Missense_Mutation_p.D415N|HTR3A_ENST00000535865.1_Missense_Mutation_p.D121N			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	377					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CAAGACTGATGACTGCTCAGG	0.582													False	0	False	11:113857759	0	A	113857759	G	A	113857759	3	1	71	1	0	0	0	0	1	0	0	0	7494	1290	45	2	1295	2	HTR3A	11	113857759	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	58486061	113857759	21148757	57	5988											
TECTA	7007	broad.mit.edu	37	chr11	120998885	120998885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctacgccttcccctcCgagttctcctacaccctcct	4	22	1	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:120998885C>T	ENST00000392793.1	+	9	2470	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	TECTA_ENST00000264037.2_Silent_p.S733S			O75443	TECTA_HUMAN	tectorin alpha	733	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTTCCCCTCCGAGTTCTCCT	0.612													False	0	False	11:120998885	0	T	120998885	C	T	120998885	2	4	71	1	0	0	0	0	0	0	0	1	15829	639	23	1		1	TECTA	11	120998885	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	7141126	120998885	14007631	58	5989											
DCP1B	196513	broad.mit.edu	37	chr12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG													gctgctgctgctgctgctgcINStggtggagagtctgcggagg							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:2062350_2062351insTGG	ENST00000540622.1	-	4	435_436	c.377_378insCCA	c.(376-378)cag>caCCAg	p.125_126insH	DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH|DCP1B_ENST00000280665.6_In_Frame_Ins_p.251_252insH|DCP1B_ENST00000541700.1_5'UTR			Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.55													False	2	True	12:2062350	0	TGG	2062351	-	TGG	2062350	7	5	71	1	0	1	1	0	0	0	0	0	4324	796	28	0	1109	0	DCP1B	12	2062350	In_Frame_Ins	INS	-	TCGA-HZ-8637-01A-11D-2396-08		2062350	131789545	59	5990											
CAPZA3	93661	broad.mit.edu	37	chr12	18891410	18891410	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgcatcgatggaaatccaGtactcttgtctcaccacaat	6	12	3	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:18891410G>C	ENST00000317658.3	+	1	366	c.208G>C	c.(208-210)Gta>Cta	p.V70L		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	70					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TGGAAATCCAGTACTCTTGTC	0.423													False	0	False	12:18891410	0	C	18891410	G	C	18891410	3	2	71	1	0	0	0	0	1	0	0	0	2662	1029	36	5	210	5	CAPZA3	12	18891410	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	16829060	18891410	114960485	60	5991											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	71	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	6506874	25398284	108453611	61	5992											
ADCY6	112	broad.mit.edu	37	chr12	49164673	49164673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgatcgtaggtgctggcGttcagccctgaggcagccat	13	12	1	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:49164673G>A	ENST00000307885.4	-	19	3826	c.3132C>T	c.(3130-3132)aaC>aaT	p.N1044N	ADCY6_ENST00000550422.1_Silent_p.N991N|ADCY6_ENST00000357869.3_Silent_p.N991N	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1044					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.N1044N(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGTGCTGGCGTTCAGCCCTG	0.567													False	0	False	12:49164673	0	A	49164673	G	A	49164673	2	1	71	1	0	0	0	0	0	0	0	1	298	1136	40	1		1	ADCY6	12	49164673	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	23766389	49164673	84687222	62	5993											
KRT4	3851	broad.mit.edu	37	chr12	53202186	53202186	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaccatgttggtcaaccgaGatctggagctgctggaccta	11	11	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:53202186G>A	ENST00000551956.1	-	6	1509	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	KRT4_ENST00000458244.2_Silent_p.I319I|KRT4_ENST00000293774.4_Silent_p.I413I			B4DRS2	B4DRS2_HUMAN	keratin 4	339						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGTCAACCGAGATCTGGAGCT	0.498													False	0	False	12:53202186	0	A	53202186	G	A	53202186	2	1	71	1	0	0	0	0	0	0	0	1	8527	932	33	2		2	KRT4	12	53202186	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	4037513	53202186	80649709	63	5994											
ACSS3	79611	broad.mit.edu	37	chr12	81568670	81568670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgcaattagagcaatccGtcaacaggaccctggggcag	11	11	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:81568670G>A	ENST00000548058.1	+	8	2112	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H	ACSS3_ENST00000261206.3_Missense_Mutation_p.R400H|ACSS3_ENST00000548324.1_Missense_Mutation_p.R83H			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	401						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGAGCAATCCGTCAACAGGAC	0.502													False	0	False	12:81568670	0	A	81568670	G	A	81568670	3	1	71	1	0	0	0	0	1	0	0	0	190	1145	40	1	1232	1	ACSS3	12	81568670	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	28366484	81568670	52283225	64	5995											
LRRC43	254050	broad.mit.edu	37	chr12	122669269	122669269	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccatccggaacccgctgacGatcacagacaccttcttcta	7	16	3	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:122669269G>T	ENST00000339777.4	+	2	382	c.354G>T	c.(352-354)acG>acT	p.T118T	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	118										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		ACCCGCTGACGATCACAGACA	0.582													False	0	False	12:122669269	0	T	122669269	G	T	122669269	2	4	71	1	0	0	0	0	0	0	0	1	9063	1045	37	3		3	LRRC43	12	122669269	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	41100599	122669269	11182626	65	5996											
LCP1	3936	broad.mit.edu	37	chr13	46718595	46718595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctgtacaaatgattgactCgagggttaacacccagggag	11	9	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:46718595C>T	ENST00000398576.2	-	14	1623	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	LCP1_ENST00000323076.2_Missense_Mutation_p.R412Q			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	412	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ATGATTGACTCGAGGGTTAAC	0.423			T	BCL6	NHL								False	0	False	13:46718595	0	T	46718595	C	T	46718595	3	4	71	1	0	0	0	0	1	0	0	0	8742	884	31	1	672	1	LCP1	13	46718595	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08		46718595	68451283	66	5997											
PCDH9	5101	broad.mit.edu	37	chr13	67802512	67802512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataagttcttgagctattgCggaatccagccttaaacagg	9	8	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:67802512C>T	ENST00000544246.1	-	2	752	c.61G>A	c.(61-63)Gca>Aca	p.A21T	PCDH9_ENST00000377865.2_Missense_Mutation_p.A21T|PCDH9_ENST00000377861.3_Missense_Mutation_p.A21T|PCDH9_ENST00000456367.1_Missense_Mutation_p.A21T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A21T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	21					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A21T(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGAGCTATTGCGGAATCCAGC	0.383													False	0	False	13:67802512	0	T	67802512	C	T	67802512	3	4	71	1	0	0	0	0	1	0	0	0	11586	768	27	1	3668	1	PCDH9	13	67802512	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	21083917	67802512	47367366	67	5998											
TEP1	7011	broad.mit.edu	37	chr14	20851408	20851408	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccagccgggcccgagcAgaggcctccagaggccccaa	12	18	1	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:20851408A>C	ENST00000262715.5	-	27	4012	c.3972T>G	c.(3970-3972)tcT>tcG	p.S1324S	TEP1_ENST00000556935.1_Silent_p.S1216S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1324	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGCCCGAGCAGAGGCCTCCA	0.647													False	0	False	14:20851408	0	C	20851408	A	C	20851408	2	2	71	1	0	0	0	0	0	0	0	1	15841	175	7	4		4	TEP1	14	20851408	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08		20851408	86498132	68	5999											
SPTBN5	51332	broad.mit.edu	37	chr15	42147503	42147503	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccaggcgtcgaggagcagGgtctctcgctccagctggtg	16	12	1	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:42147503G>T	ENST00000320955.6	-	55	9569	c.9342C>A	c.(9340-9342)acC>acA	p.T3114T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3114					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGAGGAGCAGGGTCTCTCGCT	0.682													False	0	True	15:42147503	0	T	42147503	G	T	42147503	2	4	71	1	0	0	0	0	0	0	0	1	15204	1219	43	3		3	SPTBN5	15	42147503	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		42147503	60383889	69	6000											
SPPL2A	84888	broad.mit.edu	37	chr15	51012246	51012246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggagagcaggttgccccTttttcatcagcaccagaaca	10	11	2	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:51012246T>C	ENST00000261854.5	-	14	1653	c.1379A>G	c.(1378-1380)aAg>aGg	p.K460R		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	460						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		AGGTTGCCCCTTTTTCATCAG	0.408													False	0	True	15:51012246	0	C	51012246	T	C	51012246	3	2	71	1	0	0	0	0	1	0	0	0	15170	1609	56	4	191	4	SPPL2A	15	51012246	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	8864743	51012246	51519146	70	6001											
IGF1R	3480	broad.mit.edu	37	chr15	99192904	99192907	+	Splice_Site	DEL	AGTG	AGTG	-													tctggccgacgagtggagaaAgtgagtatgtgcccgccgcc							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	AGTG	AGTG	-	-	AGTG	AGTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:99192904_99192907delAGTG	ENST00000558762.1	+	1	632	c.94delAGTG	c.(94-96)agt>gt	p.S32fs	IGF1R_ENST00000268035.6_Splice_Site_p.S32fs			P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	32					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAGTGGAGAAAGTGAGTATGTGCC	0.662													False	1	False	15:99192904	0	-	99192907	AGTG	-	99192904	8	5	71	1	0	1	0	1	0	0	1	0	7621	86	3	0	96	0	IGF1R	15	99192904	Splice_Site	DEL	AGTG	TCGA-HZ-8637-01A-11D-2396-08	48180658	99192904	3338488	71	6002											
HSF4	3299	broad.mit.edu	37	chr16	67203674	67203674	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctacttgggcccggaagccAgtccctccccctaagacccc	8	20	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:67203674A>G	ENST00000264009.8	+	15	2430	c.1465A>G	c.(1465-1467)Agt>Ggt	p.S489G	HSF4_ENST00000421453.1_Missense_Mutation_p.S459G|HSF4_ENST00000521374.1_Missense_Mutation_p.S489G|HSF4_ENST00000584272.1_Missense_Mutation_p.S459G	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	489					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCCGGAAGCCAGTCCCTCCCC	0.667											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	16:67203674	0	G	67203674	A	G	67203674	3	3	71	1	0	0	0	0	1	0	0	0	7445	188	7	4	1529	4	HSF4	16	67203674	Missense_Mutation	SNP	A	TCGA-HZ-8637-01A-11D-2396-08		67203674	23151079	72	6003											
WWP2	11060	broad.mit.edu	37	chr16	69832593	69832593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctcccagtggtgtccGcaaagcccaaggtgcataat	9	12	1	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:69832593G>A	ENST00000359154.2	+	3	180	c.79G>A	c.(79-81)Gca>Aca	p.A27T	WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000356003.2_Missense_Mutation_p.A27T|WWP2_ENST00000569174.1_Missense_Mutation_p.A27T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	27	C2.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGGTGTCCGCAAAGCCCAA	0.527											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	16:69832593	0	A	69832593	G	A	69832593	3	1	71	1	0	0	0	0	1	0	0	0	17500	1087	38	1	85	1	WWP2	16	69832593	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	2628919	69832593	20522160	73	6004											
ANKRD11	29123	broad.mit.edu	37	chr16	89341354	89341354	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctcctgctcacaggatacGatcagcttctcctgaaggag	9	12	4	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:89341354G>A	ENST00000301030.4	-	11	8041	c.7581C>T	c.(7579-7581)atC>atT	p.I2527I	ANKRD11_ENST00000378330.2_Silent_p.I2527I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2527						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACAGGATACGATCAGCTTCT	0.637													False	0	False	16:89341354	0	A	89341354	G	A	89341354	2	1	71	1	0	0	0	0	0	0	0	1	639	1048	37	1		1	ANKRD11	16	89341354	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	19508761	89341354	1013399	74	6005											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	12	13	1	0	rs28934575		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			False	0	False	17:7577548	0	T	7577548	C	T	7577548	3	4	71	1	0	0	0	0	1	0	0	0	16464	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08		7577548	73617662	75	6006											
CHD3	1107	broad.mit.edu	37	chr17	7812062	7812062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaatgatgctcaatttgCcattatcaacgagccattta	6	10	2	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:7812062C>T	ENST00000380358.4	+	36	5487	c.5486C>T	c.(5485-5487)gCc>gTc	p.A1829V	CHD3_ENST00000330494.7_Missense_Mutation_p.A1770V|CHD3_ENST00000358181.4_Missense_Mutation_p.A1736V	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1770	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCTCAATTTGCCATTATCAAC	0.463													False	0	False	17:7812062	0	T	7812062	C	T	7812062	3	4	71	1	0	0	0	0	1	0	0	0	3349	739	26	2	5732	2	CHD3	17	7812062	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	234514	7812062	73383148	76	6007											
ABCA10	10349	broad.mit.edu	37	chr17	67144973	67144973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggttcttcattttaagGgtcttcctgtgggagaagtt	13	5	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:67144973G>A	ENST00000269081.4	-	40	5536	c.4627C>T	c.(4627-4629)Cct>Tct	p.P1543S	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1543					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TCATTTTAAGGGTCTTCCTGT	0.338													False	0	True	17:67144973	0	A	67144973	G	A	67144973	3	1	71	1	0	0	0	0	1	0	0	0	29	1232	43	2	8	2	ABCA10	17	67144973	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	59332911	67144973	14050237	77	6008											
TXNDC2	0	broad.mit.edu	37	chr18	9886941	9886941	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccccaagtcctcagcaaaAcccatccagcccaagctggg	7	17	1	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr18:9886941A>G	ENST00000357775.5	+	2	499	c.264A>G	c.(262-264)aaA>aaG	p.K88K	TXNDC2_ENST00000306084.6_Silent_p.K155K|TXNDC2_ENST00000536353.2_Silent_p.K88K	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)						cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCTCAGCAAAACCCATCCAGC	0.547													False	0	True	18:9886941	0	G	9886941	A	G	9886941	2	3	71	1	0	0	0	0	0	0	0	1	16881	40	2	4		4	TXNDC2	18	9886941	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08		9886941	68190307	78	6009											
AQP4	361	broad.mit.edu	37	chr18	24436320	24436320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctccacctccatgtagCttccttttgtttgctgggca	8	13	0	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr18:24436320C>T	ENST00000383168.4	-	5	955	c.827G>A	c.(826-828)aGc>aAc	p.S276N	AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.S254N|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000581374.1_Missense_Mutation_p.S254N	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	276					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CTCCATGTAGCTTCCTTTTGT	0.488													False	0	False	18:24436320	0	T	24436320	C	T	24436320	3	4	71	1	0	0	0	0	1	0	0	0	830	797	28	2	148	2	AQP4	18	24436320	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	14549379	24436320	53640928	79	6010											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													False	0	True	19:9090831	0	G	9090831	A	G	9090831	2	3	71	1	0	0	0	0	0	0	0	1	10040	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08		9090831	50038152	80	6011											
TYK2	7297	broad.mit.edu	37	chr19	10476252	10476252	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatgccaccagtgcctgtcaCcagcacctcgtgggttgggg	14	13	1	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:10476252C>G	ENST00000525621.1	-	7	1433	c.952G>C	c.(952-954)Gtg>Ctg	p.V318L	TYK2_ENST00000524462.1_Missense_Mutation_p.V133L|TYK2_ENST00000529370.1_Missense_Mutation_p.V318L|TYK2_ENST00000264818.6_Missense_Mutation_p.V318L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	318	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GTGCCTGTCACCAGCACCTCG	0.677													False	0	False	19:10476252	0	G	10476252	C	G	10476252	3	3	71	1	0	0	0	0	1	0	0	0	16894	507	18	5	2687	5	TYK2	19	10476252	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	1385421	10476252	48652731	81	6012											
LTBP4	8425	broad.mit.edu	37	chr19	41120241	41120241	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggacgaatgtcgcgagCgaggcccagccctgtgcggg	17	12	0	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:41120241C>T	ENST00000308370.7	+	22	2902	c.2902C>T	c.(2902-2904)Cga>Tga	p.R968*	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_Nonsense_Mutation_p.R66*|LTBP4_ENST00000396819.3_Nonsense_Mutation_p.R901*|LTBP4_ENST00000545697.1_Nonsense_Mutation_p.R421*|LTBP4_ENST00000204005.9_Nonsense_Mutation_p.R931*	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	968	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGTCGCGAGCGAGGCCCAGC	0.662													False	0	True	19:41120241	0	T	41120241	C	T	41120241	4	4	71	1	0	0	0	0	0	1	0	0	9138	760	27	1	3281	1	LTBP4	19	41120241	Nonsense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	30643989	41120241	18008742	82	6013											
ZNF576	79177	broad.mit.edu	37	chr19	44103397	44103397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactacattcggcatgcccGgggggagctctgagtgcagc	14	12	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:44103397G>A	ENST00000336564.4	+	3	654	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	ZNF576_ENST00000391965.2_Missense_Mutation_p.R167Q|ZNF576_ENST00000533118.1_Missense_Mutation_p.R167Q|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000528387.1_Missense_Mutation_p.R167Q|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000525771.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000529930.1_Missense_Mutation_p.R167Q	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				CGGCATGCCCGGGGGGAGCTC	0.622													False	0	True	19:44103397	0	A	44103397	G	A	44103397	3	1	71	1	0	0	0	0	1	0	0	0	18091	1116	39	1	506	1	ZNF576	19	44103397	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	2983156	44103397	15025586	83	6014											
TRPM4	54795	broad.mit.edu	37	chr19	49714750	49714750	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcttttctctcttcccccaGactgagccctgctggcggac	8	17	3	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:49714750G>C	ENST00000252826.5	+	25	3766		c.e25-1		TRPM4_ENST00000427978.2_Splice_Site|TRPM4_ENST00000355712.5_Splice_Site	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4						dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCTTCCCCCAGACTGAGCCCT	0.567													False	0	False	19:49714750	0	C	49714750	G	C	49714750	5	2	71	1	0	0	0	0	0	0	1	0	16671	956	33	5	3738	5	TRPM4	19	49714750	Splice_Site	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	5611353	49714750	9414233	84	6015											
SIGLEC9	27180	broad.mit.edu	37	chr19	51629104	51629104	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggggccagcgtgaccacGaacaagaccgtccatctcaa	10	15	1	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:51629104G>A	ENST00000440804.3	+	2	739	c.672G>A	c.(670-672)acG>acA	p.T224T	SIGLEC9_ENST00000250360.3_Silent_p.T224T	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	224	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCGTGACCACGAACAAGACCG	0.662													False	0	False	19:51629104	0	A	51629104	G	A	51629104	2	1	71	1	0	0	0	0	0	0	0	1	14396	1045	37	1		1	SIGLEC9	19	51629104	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	1914354	51629104	7499879	85	6016											
NLRP12	91662	broad.mit.edu	37	chr19	54314419	54314419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatggggtttgagtgcTccttcaccagcaggagccgg	14	12	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:54314419T>C	ENST00000324134.6	-	3	662	c.494A>G	c.(493-495)gAg>gGg	p.E165G	NLRP12_ENST00000391773.1_Missense_Mutation_p.E165G|NLRP12_ENST00000391772.1_Missense_Mutation_p.E165G|NLRP12_ENST00000391775.3_Missense_Mutation_p.E165G|NLRP12_ENST00000535162.1_Missense_Mutation_p.E165G|NLRP12_ENST00000354278.3_Missense_Mutation_p.E165G|NLRP12_ENST00000345770.5_Missense_Mutation_p.E165G|NLRP12_ENST00000351894.4_Missense_Mutation_p.E165G	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	165					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTTTGAGTGCTCCTTCACCAG	0.612													False	0	False	19:54314419	0	C	54314419	T	C	54314419	3	2	71	1	0	0	0	0	1	0	0	0	10542	1551	54	4	2819	4	NLRP12	19	54314419	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	2685315	54314419	4814564	86	6017											
NLRP7	199713	broad.mit.edu	37	chr19	55450705	55450705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtacgtccccgatgtcccaGgcgtggccgtccctgtcctc	11	17	0	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:55450705G>A	ENST00000446217.1	-	6	1968	c.1566C>T	c.(1564-1566)gcC>gcT	p.A522A	NLRP7_ENST00000590030.1_Silent_p.A494A|NLRP7_ENST00000592784.1_Silent_p.A494A|NLRP7_ENST00000328092.5_Silent_p.A494A|NLRP7_ENST00000448121.2_Silent_p.A494A|NLRP7_ENST00000340844.2_Silent_p.A494A|NLRP7_ENST00000588756.1_Silent_p.A494A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	494							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGATGTCCCAGGCGTGGCCGT	0.567													False	0	False	19:55450705	0	A	55450705	G	A	55450705	2	1	71	1	0	0	0	0	0	0	0	1	10550	987	35	2		2	NLRP7	19	55450705	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	1136286	55450705	3678278	87	6018											
ZNF749	388567	broad.mit.edu	37	chr19	57956396	57956396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttagatatcgctgtacacTgagtagacatcagaaagttc	8	8	1	4			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:57956396T>C	ENST00000334181.4	+	3	2130	c.1880T>C	c.(1879-1881)cTg>cCg	p.L627P	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CGCTGTACACTGAGTAGACAT	0.363													False	0	False	19:57956396	0	C	57956396	T	C	57956396	3	2	71	1	0	0	0	0	1	0	0	0	18213	1580	55	4	1890	4	ZNF749	19	57956396	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	2505691	57956396	1172587	88	6019											
NDRG3	57446	broad.mit.edu	37	chr20	35294743	35294743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttggttgatgtcttggGcaatatgcattctgtaggtt	12	5	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:35294743G>A	ENST00000373803.2	-	10	697	c.641C>T	c.(640-642)gCc>gTc	p.A214V	NDRG3_ENST00000349004.1_Missense_Mutation_p.A214V|NDRG3_ENST00000373773.3_Missense_Mutation_p.A119V|NDRG3_ENST00000540765.1_Missense_Mutation_p.A110V|NDRG3_ENST00000359675.2_Missense_Mutation_p.A202V			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	214					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				GATGTCTTGGGCAATATGCAT	0.398													False	0	True	20:35294743	0	A	35294743	G	A	35294743	3	1	71	1	0	0	0	0	1	0	0	0	10321	1203	42	2	514	2	NDRG3	20	35294743	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		35294743	27730777	89	6020											
SLC12A5	57468	broad.mit.edu	37	chr20	44685057	44685057	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccccagcagctccccgtcCccaggggaggagcctgaggg	15	16	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:44685057C>A	ENST00000243964.3	+	23	3062	c.2964C>A	c.(2962-2964)tcC>tcA	p.S988S	SLC12A5_ENST00000454036.2_Silent_p.S1011S	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1011					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCTCCCCGTCCCCAGGGGAGG	0.607													False	0	True	20:44685057	0	A	44685057	C	A	44685057	2	1	71	1	0	0	0	0	0	0	0	1	14467	610	22	3		3	SLC12A5	20	44685057	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	9390314	44685057	18340463	90	6021											
ZNF831	128611	broad.mit.edu	37	chr20	57766652	57766652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctacaagcacaggcggaCgcagacgcacctcaacaact	8	15	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:57766652C>T	ENST00000371030.2	+	1	578	c.578C>T	c.(577-579)aCg>aTg	p.T193M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	193						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACAGGCGGACGCAGACGCAC	0.662													False	0	True	20:57766652	0	T	57766652	C	T	57766652	3	4	71	1	0	0	0	0	1	0	0	0	18267	536	19	1	580	1	ZNF831	20	57766652	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	13081595	57766652	5258868	91	6022											
U2AF1	7307	broad.mit.edu	37	chr21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcggtttattgtgcaaccgaGagcacctgtctccatgacga	10	11	1	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"								False	0	False	21:44524456	0	A	44524456	G	A	44524456	3	1	71	1	0	0	0	0	1	0	0	0	16905	942	33	2	720	2	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		44524456	3605439	92	6023											
DMD	1756	broad.mit.edu	37	chrX	32563424	32563424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgtctgtgttagtgatgGctgagtggtggtgacagcct	16	5	1	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:32563424G>A	ENST00000357033.4	-	17	2226	c.2020C>T	c.(2020-2022)Cca>Tca	p.P674S	DMD_ENST00000378677.2_Missense_Mutation_p.P670S|DMD_ENST00000288447.4_Missense_Mutation_p.P666S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	674					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTAGTGATGGCTGAGTGGTG	0.463													False	0	False	X:32563424	0	A	32563424	G	A	32563424	3	1	71	1	0	0	0	0	1	0	0	0	4610	1203	42	2	9532	2	DMD	23	32563424	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08		32563424	122707136	93	6024											
DGKK	139189	broad.mit.edu	37	chrX	50213545	50213556	+	RNA	DEL	GCGGCGGAGCCG	GCGGCGGAGCCG	-													tggcgaagcctcggagagcaGcggcggagccggcggcggag							TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	GCGGCGGAGCCG	GCGGCGGAGCCG	-	-	GCGGCGGAGCCG	GCGGCGGAGCCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:50213545_50213556delGCGGCGGAGCCG	ENST00000376025.2	-	0	181_192							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGGAGAgcagcggcggagccggcggcggagc	0.693													False	1	False	X:50213545	0	-	50213556	GCGGCGGAGCCG	-	50213545	6	5	71	0	1	1	0	1	0	0	0	0	4502	962	34	0		0	DGKK	23	50213545	RNA	DEL	GCGGCGGAGCCG	TCGA-HZ-8637-01A-11D-2396-08	17650121	50213545	105057015	94	6025											
SHROOM4	57477	broad.mit.edu	37	chrX	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-													aatactggggtggcagctccTcttcctcctcctctgcctcc					rs3747282	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:50350672_50350674delTCT	ENST00000460112.3	-	5	3574_3576	c.3120_3122delAGA	c.(3118-3123)gaagag>gag	p.1040_1041EE>E	SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													False	1	False	X:50350672	0	-	50350674	TCT	-	50350672	7	5	71	1	0	1	0	1	0	0	0	0	14377	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-HZ-8637-01A-11D-2396-08	137127	50350672	104919888	95	6026											
TBX22	50945	broad.mit.edu	37	chrX	79279655	79279655	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgccggtggattccaaAcgctataggtaatgggcccc	14	10	0	0			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:79279655A>G	ENST00000442340.1	+	4	580	c.90A>G	c.(88-90)aaA>aaG	p.K30K	TBX22_ENST00000373296.3_Silent_p.K150K|TBX22_ENST00000373291.1_Silent_p.K30K|TBX22_ENST00000373294.5_Silent_p.K150K	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	150					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGGATTCCAAACGCTATAGGT	0.527													False	0	True	X:79279655	0	G	79279655	A	G	79279655	2	3	71	1	0	0	0	0	0	0	0	1	15740	40	2	4		4	TBX22	23	79279655	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08	28928983	79279655	75990905	96	6027											
SYTL4	94121	broad.mit.edu	37	chrX	99956515	99956515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctgtatgcggcagtcccGacacaccaggtgattacaac	9	13	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:99956515G>A	ENST00000372981.1	-	3	451	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	SYTL4_ENST00000455616.1_Missense_Mutation_p.R89W|SYTL4_ENST00000454200.2_Missense_Mutation_p.R89W|SYTL4_ENST00000372989.1_Missense_Mutation_p.R89W|SYTL4_ENST00000276141.6_Missense_Mutation_p.R89W|SYTL4_ENST00000263033.5_Missense_Mutation_p.R89W			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	89	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGGCAGTCCCGACACACCAGG	0.572													False	0	True	X:99956515	0	A	99956515	G	A	99956515	3	1	71	1	0	0	0	0	1	0	0	0	15567	1057	37	1	1810	1	SYTL4	23	99956515	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	20676860	99956515	55314045	97	6028											
DRP2	1821	broad.mit.edu	37	chrX	100505940	100505940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcattgaagcatcccagtTcctggagtgggtcaacctgg	12	10	2	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:100505940T>C	ENST00000395209.3	+	16	2260	c.1733T>C	c.(1732-1734)tTc>tCc	p.F578S	DRP2_ENST00000541709.1_Missense_Mutation_p.F500S|DRP2_ENST00000402866.1_Missense_Mutation_p.F578S|DRP2_ENST00000538510.1_Missense_Mutation_p.F578S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	578					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GCATCCCAGTTCCTGGAGTGG	0.542													False	0	False	X:100505940	0	C	100505940	T	C	100505940	3	2	71	1	0	0	0	0	1	0	0	0	4794	1783	62	4	1787	4	DRP2	23	100505940	Missense_Mutation	SNP	T	TCGA-HZ-8637-01A-11D-2396-08	549425	100505940	54764620	98	6029											
IRS4	8471	broad.mit.edu	37	chrX	107979420	107979420	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccgtggagagccacatggctCccggacaagacgacccggtc	13	15	0	2			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:107979420C>G	ENST00000372129.2	-	1	231	c.155G>C	c.(154-156)gGa>gCa	p.G52A	RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	52						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCACATGGCTCCCGGACAAGA	0.672													False	0	True	X:107979420	0	G	107979420	C	G	107979420	3	3	71	1	0	0	0	0	1	0	0	0	7892	855	30	5	3622	5	IRS4	23	107979420	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	7473480	107979420	47291140	99	6030											
KCNE1L	23630	broad.mit.edu	37	chrX	108868206	108868206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagctcgagcaacaggCggctcagaagggttcgcagc	16	11	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:108868206C>T	ENST00000372101.2	-	1	187	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	15					regulation of heart contraction	voltage-gated potassium channel complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GAGCAACAGGCGGCTCAGAAG	0.682													False	0	False	X:108868206	0	T	108868206	C	T	108868206	3	4	71	1	0	0	0	0	1	0	0	0	8072	768	27	1	388	1	KCNE1L	23	108868206	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	888786	108868206	46402354	100	6031											
CAPN6	827	broad.mit.edu	37	chrX	110494868	110494868	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcactgaagacttccacaaGtctctctccaagacgaattt	6	12	2	3			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:110494868G>T	ENST00000324068.1	-	6	969	c.802C>A	c.(802-804)Ctt>Att	p.L268I	CAPN6_ENST00000541758.1_Missense_Mutation_p.L13I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	268	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACTTCCACAAGTCTCTCTCCA	0.488													False	0	True	X:110494868	0	T	110494868	G	T	110494868	3	4	71	1	0	0	0	0	1	0	0	0	2650	1029	36	3	1155	3	CAPN6	23	110494868	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	1626662	110494868	44775692	101	6032											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	18	6	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:112058796C>T	ENST00000371959.3	-	2	1181	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582													False	0	True	X:112058796	0	T	112058796	C	T	112058796	2	4	71	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	1563928	112058796	43211764	102	6033											
NDUFA1	4694	broad.mit.edu	37	chrX	119005896	119005896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggttcgagattctccccGgactctccgtcatgggcgtg	13	12	3	1	rs104894884		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:119005896G>A	ENST00000371437.4	+	1	447	c.22G>A	c.(22-24)Gga>Aga	p.G8R		NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	8			G -> R (in MT-C1D).		mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5					NADH(DB00157)	GATTCTCCCCGGACTCTCCGT	0.582													False	0	True	X:119005896	0	A	119005896	G	A	119005896	3	1	71	1	0	0	0	0	1	0	0	0	10327	1117	39	1	24	1	NDUFA1	23	119005896	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	6947100	119005896	36264664	103	6034											
TFDP3	51270	broad.mit.edu	37	chrX	132351106	132351106	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcactgaggtcgtcatcGttgttgtcctcctcctcttc	7	14	3	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:132351106G>A	ENST00000310125.4	-	1	1270	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	394	Asp/Glu-rich (acidic; NCB domain).					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GGTCGTCATCGTTGTTGTCCT	0.498													False	0	False	X:132351106	0	A	132351106	G	A	132351106	2	1	71	1	0	0	0	0	0	0	0	1	15881	1136	40	1		1	TFDP3	23	132351106	Silent	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	13345210	132351106	22919454	104	6035											
UBE2NL	389898	broad.mit.edu	37	chrX	142967510	142967510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccagccctgcagatccGcacagttctgctatcgatcc	8	17	1	1	rs150007003		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:142967510G>A	ENST00000370494.1	+	1	338	c.308G>A	c.(307-309)cGc>cAc	p.R103H		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	103							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAGATCCGCACAGTTCTG	0.423													False	0	False	X:142967510	0	A	142967510	G	A	142967510	3	1	71	1	0	0	0	0	1	0	0	0	16951	1087	38	1	310	1	UBE2NL	23	142967510	Missense_Mutation	SNP	G	TCGA-HZ-8637-01A-11D-2396-08	10616404	142967510	12303050	105	6036											
MAMLD1	10046	broad.mit.edu	37	chrX	149639651	149639651	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagcagcagcagcaAcagcagcagcagcctgacca	11	15	0	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:149639651A>G	ENST00000370401.2	+	4	2116	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	MAMLD1_ENST00000455522.2_Silent_p.Q83Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q|MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000426613.2_Silent_p.Q577Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	602	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					agcagcagcaacagcagcagc	0.602													False	0	True	X:149639651	0	G	149639651	A	G	149639651	2	3	71	1	0	0	0	0	0	0	0	1	9275	40	2	4		4	MAMLD1	23	149639651	Silent	SNP	A	TCGA-HZ-8637-01A-11D-2396-08	6672141	149639651	5630909	106	6037											
PDZD4	57595	broad.mit.edu	37	chrX	153069953	153069953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctctcgttgcggttgaCgtccagggcgctgttgcctc	14	13	1	1			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:153069953C>T	ENST00000164640.4	-	8	1356	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	PDZD4_ENST00000393758.2_Missense_Mutation_p.V314I|PDZD4_ENST00000544474.1_Missense_Mutation_p.V280I	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	389						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGCGGTTGACGTCCAGGGCG	0.632													False	0	False	X:153069953	0	T	153069953	C	T	153069953	3	4	71	1	0	0	0	0	1	0	0	0	11771	536	19	1	1148	1	PDZD4	23	153069953	Missense_Mutation	SNP	C	TCGA-HZ-8637-01A-11D-2396-08	3430302	153069953	2200607	107	6038											
ALDH4A1	8659	broad.mit.edu	37	chr1	19212958	19212958	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcacacaggctcactcacCttgtctgcataacagaactt	7	13	3	1			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:19212958C>A	ENST00000375341.3	-	4	554	c.297G>T	c.(295-297)aaG>aaT	p.K99N	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Splice_Site_p.K99N|ALDH4A1_ENST00000538309.1_Splice_Site_p.K39N|ALDH4A1_ENST00000538839.1_Splice_Site_p.K99N	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	99					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	GCTCACTCACCTTGTCTGCAT	0.587													False	0	True	1:19212958	0	A	19212958	C	A	19212958	5	1	72	1	0	0	0	0	0	0	1	0	501	695	24	3	1442	3	ALDH4A1	1	19212958	Splice_Site	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08		19212958	230037663	1	6039											
USP48	84196	broad.mit.edu	37	chr1	22030753	22030753	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaaagcaatatgaaaacttActgggctcagaaatatactg	8	7	1	2			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:22030753A>G	ENST00000308271.9	-	20	3164		c.e20+1		USP48_ENST00000529637.1_Splice_Site|USP48_ENST00000374732.3_Splice_Site|USP48_ENST00000400301.1_Splice_Site	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48						ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ATGAAAACTTACTGGGCTCAG	0.368													False	0	False	1:22030753	0	G	22030753	A	G	22030753	5	3	72	1	0	0	0	0	0	0	1	0	17163	405	14	4	622	4	USP48	1	22030753	Splice_Site	SNP	A	TCGA-HZ-A49G-01A-11D-A26I-08	2817795	22030753	227219868	2	6040											
MACF1	23499	broad.mit.edu	37	chr1	39749752	39749752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caataggaagtggactccagGtggcaagaataccaaagccg	12	9	0	1			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:39749752G>T	ENST00000564288.1	+	10	1707	c.930G>T	c.(928-930)agG>agT	p.R310S	MACF1_ENST00000567887.1_Missense_Mutation_p.R347S|MACF1_ENST00000361689.2_Missense_Mutation_p.R315S|MACF1_ENST00000539005.1_Missense_Mutation_p.R315S|MACF1_ENST00000317713.7_Missense_Mutation_p.R315S|MACF1_ENST00000545844.1_Missense_Mutation_p.R315S|MACF1_ENST00000372915.3_Missense_Mutation_p.R315S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	315					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGACTCCAGGTGGCAAGAAT	0.443													False	0	False	1:39749752	0	T	39749752	G	T	39749752	3	4	72	1	0	0	0	0	1	0	0	0	9207	1252	44	3	979	3	MACF1	1	39749752	Missense_Mutation	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08	17718999	39749752	209500869	3	6041											
FCGR2B	2213	broad.mit.edu	37	chr1	161645099	161645099	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaccctccctgagaaAccaggtgagtacaggttgtc	13	10	0	3			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:161645099A>T	ENST00000367962.4	+	6	940	c.813A>T	c.(811-813)aaA>aaT	p.K271N	FCGR2B_ENST00000236937.9_Intron|FCGR2B_ENST00000367960.5_Missense_Mutation_p.K264N|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000358671.5_Missense_Mutation_p.K271N|FCGR2B_ENST00000367961.4_Missense_Mutation_p.K264N			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	271					immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCCTGAGAAACCAGGTGAGT	0.602			T	?	ALL								False	0	True	1:161645099	0	T	161645099	A	T	161645099	3	4	72	1	0	0	0	0	1	0	0	0	5822	40	2	5	835	5	FCGR2B	1	161645099	Missense_Mutation	SNP	A	TCGA-HZ-A49G-01A-11D-A26I-08	121895347	161645099	87605522	4	6042											
SOAT1	6646	broad.mit.edu	37	chr1	179320574	179320574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctcaagaatggtatgcaCgtcagcactgtcctctgaaa	8	10	3	2			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:179320574C>T	ENST00000367619.3	+	15	1716	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C	SOAT1_ENST00000540564.1_Missense_Mutation_p.R467C|SOAT1_ENST00000535686.1_Missense_Mutation_p.R261C|SOAT1_ENST00000539888.1_Missense_Mutation_p.R460C	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	525					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ATGGTATGCACGTCAGCACTG	0.433													False	0	False	1:179320574	0	T	179320574	C	T	179320574	3	4	72	1	0	0	0	0	1	0	0	0	14990	536	19	1	1627	1	SOAT1	1	179320574	Missense_Mutation	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08	17675475	179320574	69930047	5	6043											
CLIP4	79745	broad.mit.edu	37	chr2	29404502	29404502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtggcattgaagggagcGtgaagctgcacgaggggtct	18	7	1	2			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:29404502G>A	ENST00000320081.5	+	16	2116	c.1861G>A	c.(1861-1863)Gtg>Atg	p.V621M	CLIP4_ENST00000404424.1_Missense_Mutation_p.V621M|CLIP4_ENST00000481628.1_3'UTR|CLIP4_ENST00000401617.2_Missense_Mutation_p.V514M	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	621										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGAAGGGAGCGTGAAGCTGCA	0.542													False	0	False	2:29404502	0	A	29404502	G	A	29404502	3	1	72	1	0	0	0	0	1	0	0	0	3558	1145	40	1	1919	1	CLIP4	2	29404502	Missense_Mutation	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08		29404502	213794871	6	6044											
NR4A2	0	broad.mit.edu	37	chr2	157186342	157186342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagggcttgtagtaaacCgacccggagtgcggcatcat	15	9	1	0			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:157186342C>T	ENST00000339562.4	-	3	719	c.357G>A	c.(355-357)tcG>tcA	p.S119S	NR4A2_ENST00000426264.1_Silent_p.S56S|NR4A2_ENST00000429376.1_Silent_p.S56S|NR4A2_ENST00000539077.1_Silent_p.S130S|NR4A2_ENST00000409108.2_Silent_p.S119S|NR4A2_ENST00000409572.1_Silent_p.S119S	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	119	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TGTAGTAAACCGACCCGGAGT	0.612													False	0	False	2:157186342	0	T	157186342	C	T	157186342	2	4	72	1	0	0	0	0	0	0	0	1	10701	639	23	1		1	NR4A2	2	157186342	Silent	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08	127781840	157186342	86013031	7	6045											
TTN	7273	broad.mit.edu	37	chr2	179476557	179476557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagcttcattttcagcccGaacctgaaactggacctctg	7	14	3	1			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:179476557G>A	ENST00000589042.1	-	268	50703	c.50479C>T	c.(50479-50481)Cgg>Tgg	p.R16827W	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7954W|TTN_ENST00000591111.1_Missense_Mutation_p.R15186W|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7887W|TTN_ENST00000460472.2_Missense_Mutation_p.R7762W|TTN_ENST00000342992.6_Missense_Mutation_p.R14259W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15186	Ig-like 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R7762W(1)|p.R7954W(1)|p.R14259W(1)|p.R7887W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCAGCCCGAACCTGAAAC	0.458													False	0	True	2:179476557	0	A	179476557	G	A	179476557	3	1	72	1	0	0	0	0	1	0	0	0	16819	1057	37	1	57594	1	TTN	2	179476557	Missense_Mutation	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08	22290215	179476557	63722816	8	6046											
SH3BP4	23677	broad.mit.edu	37	chr2	235949561	235949561	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgccttgctcgtagacAaccccacacctttcggaaat	7	15	0	1	rs138775253		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:235949561A>C	ENST00000409212.1	+	4	655	c.148A>C	c.(148-150)Aac>Cac	p.N50H	SH3BP4_ENST00000344528.4_Missense_Mutation_p.N50H|SH3BP4_ENST00000392011.2_Missense_Mutation_p.N50H			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	50					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCTCGTAGACAACCCCACACC	0.532													False	0	False	2:235949561	0	C	235949561	A	C	235949561	3	2	72	1	0	0	0	0	1	0	0	0	14327	130	5	4	154	4	SH3BP4	2	235949561	Missense_Mutation	SNP	A	TCGA-HZ-A49G-01A-11D-A26I-08	56473004	235949561	7249812	9	6047											
CEP70	80321	broad.mit.edu	37	chr3	138289266	138289266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caattttggatttcacacttTccataatttgttccaagtca	4	9	2	0	rs143423470		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr3:138289266T>C	ENST00000264982.3	-	6	625	c.359A>G	c.(358-360)gAa>gGa	p.E120G	CEP70_ENST00000489254.1_Intron|CEP70_ENST00000542237.1_Missense_Mutation_p.E100G|CEP70_ENST00000464035.1_Missense_Mutation_p.E120G|CEP70_ENST00000481834.1_Missense_Mutation_p.E120G|CEP70_ENST00000484888.1_Missense_Mutation_p.E120G|CEP70_ENST00000478673.1_5'UTR	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	120					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTCACACTTTCCATAATTTG	0.363													False	0	True	3:138289266	0	C	138289266	T	C	138289266	3	2	72	1	0	0	0	0	1	0	0	0	3282	1783	62	4	1486	4	CEP70	3	138289266	Missense_Mutation	SNP	T	TCGA-HZ-A49G-01A-11D-A26I-08		138289266	59733164	10	6048											
ZFYVE28	57732	broad.mit.edu	37	chr4	2341323	2341323	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtcagctccttggccagCgggcgcatggccatgctctc	13	16	2	0			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr4:2341323C>T	ENST00000290974.2	-	4	717	c.378G>A	c.(376-378)ccG>ccA	p.P126P	ZFYVE28_ENST00000511071.1_Silent_p.P126P|ZFYVE28_ENST00000515312.1_Silent_p.P56P|ZFYVE28_ENST00000515169.1_Silent_p.P56P|ZFYVE28_ENST00000503000.1_Silent_p.P126P|ZFYVE28_ENST00000509171.1_Silent_p.P79P	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	126					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTTGGCCAGCGGGCGCATGG	0.692													False	0	True	4:2341323	0	T	2341323	C	T	2341323	2	4	72	1	0	0	0	0	0	0	0	1	17753	755	27	1		1	ZFYVE28	4	2341323	Silent	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08		2341323	188812953	11	6049											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	72	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-HZ-A49G-01A-11D-A26I-08		78610444	102304816	12	6050											
SLIT3	6586	broad.mit.edu	37	chr5	168199801	168199801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attacctgagcagcggaactTcttgctcttgatctggctga	10	10	3	3			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr5:168199801T>C	ENST00000519560.1	-	14	1863	c.1444A>G	c.(1444-1446)Aag>Gag	p.K482E	SLIT3_ENST00000404867.3_Missense_Mutation_p.K482E|SLIT3_ENST00000332966.8_Missense_Mutation_p.K482E	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	482	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCGGAACTTCTTGCTCTTG	0.612													False	0	False	5:168199801	0	C	168199801	T	C	168199801	3	2	72	1	0	0	0	0	1	0	0	0	14821	1792	62	4	3219	4	SLIT3	5	168199801	Missense_Mutation	SNP	T	TCGA-HZ-A49G-01A-11D-A26I-08	89589357	168199801	12715459	13	6051											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	72	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-HZ-A49G-01A-11D-A26I-08		7393450	163721617	14	6052											
COL9A1	1297	broad.mit.edu	37	chr6	70935662	70935662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctatagctccaggcaaacCgttgggacctcttcctggag	10	13	1	0			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:70935662C>T	ENST00000357250.6	-	37	2712	c.2554G>A	c.(2554-2556)Ggt>Agt	p.G852S	COL9A1_ENST00000320755.7_Missense_Mutation_p.G609S|COL9A1_ENST00000370499.4_Missense_Mutation_p.G609S|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	852	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGCAAACCGTTGGGACCT	0.428													False	0	False	6:70935662	0	T	70935662	C	T	70935662	3	4	72	1	0	0	0	0	1	0	0	0	3730	652	23	1	219	1	COL9A1	6	70935662	Missense_Mutation	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08	63542212	70935662	100179405	15	6053											
LACE1	246269	broad.mit.edu	37	chr6	108768484	108768484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagggaacttcctgctgcagGaaaactctactacctgtaag	9	10	1	0			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:108768484G>T	ENST00000368977.4	+	8	1061	c.875G>T	c.(874-876)gGa>gTa	p.G292V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	292							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CCTGCTGCAGGAAAACTCTAC	0.323													False	0	True	6:108768484	0	T	108768484	G	T	108768484	3	4	72	1	0	0	0	0	1	0	0	0	8646	1174	41	3	905	3	LACE1	6	108768484	Missense_Mutation	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08	37832822	108768484	62346583	16	6054											
GPR6	0	broad.mit.edu	37	chr6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-													tggtagtggcggccgaaggaGcggcggcggcggccacagca							TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.					integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712													False	1	True	6:110300376	0	-	110300435	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	110300376	7	5	72	1	0	1	0	1	0	0	0	0	6747	971	34	0	63	0	GPR6	6	110300376	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	TCGA-HZ-A49G-01A-11D-A26I-08	1531892	110300376	60814691	17	6055											
FNDC1	84624	broad.mit.edu	37	chr6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-													agcagtcggtctcagccgagGacgacgaggaggaggacgcg							TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65													False	2	False	6:159655079	0	-	159655081	GAC	-	159655079	7	5	72	1	0	1	0	1	0	0	0	0	6008	1174	41	0	3577	0	FNDC1	6	159655079	In_Frame_Del	DEL	GAC	TCGA-HZ-A49G-01A-11D-A26I-08	49354703	159655079	11459988	18	6056											
PDE10A	10846	broad.mit.edu	37	chr6	165832222	165832222	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttatggtccacctggAaaagcgcacaacgatcggca	10	11	1	0			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:165832222A>T	ENST00000366882.1	-	12	1023	c.869T>A	c.(868-870)tTc>tAc	p.F290Y	PDE10A_ENST00000539869.2_Missense_Mutation_p.F300Y|PDE10A_ENST00000354448.4_Missense_Mutation_p.F290Y			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	290	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTCCACCTGGAAAAGCGCACA	0.388													False	0	True	6:165832222	0	T	165832222	A	T	165832222	3	4	72	1	0	0	0	0	1	0	0	0	11698	246	9	5	1518	5	PDE10A	6	165832222	Missense_Mutation	SNP	A	TCGA-HZ-A49G-01A-11D-A26I-08	6177143	165832222	5282845	19	6057											
ABCB5	340273	broad.mit.edu	37	chr7	20768012	20768012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttatatattttgcctatgCggcagggtttcgatttggag	11	6	0	0			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr7:20768012C>T	ENST00000404938.2	+	23	3453	c.2801C>T	c.(2800-2802)gCg>gTg	p.A934V	ABCB5_ENST00000258738.6_Missense_Mutation_p.A489V	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	489					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.A489V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTTGCCTATGCGGCAGGGTTT	0.423													False	0	False	7:20768012	0	T	20768012	C	T	20768012	3	4	72	1	0	0	0	0	1	0	0	0	44	768	27	1	2928	1	ABCB5	7	20768012	Missense_Mutation	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08		20768012	138370651	20	6058											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	72	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-HZ-A49G-01A-11D-A26I-08	23385766	44153778	114984885	21	6059											
DPYS	1807	broad.mit.edu	37	chr8	105456665	105456665	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaacatcttctttgctcCctaaaaagacagcaggaatg	7	11	2	1			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr8:105456665C>T	ENST00000351513.2	-	4	736	c.604G>A	c.(604-606)Gga>Aga	p.G202R		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	202					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCTTTGCTCCCTAAAAAGAC	0.478													False	0	True	8:105456665	0	T	105456665	C	T	105456665	5	4	72	1	0	0	0	0	0	0	1	0	4776	637	22	2	979	2	DPYS	8	105456665	Splice_Site	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08		105456665	40907357	22	6060											
SPATC1	375686	broad.mit.edu	37	chr8	145096207	145096207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgcaggatcctgtccagcAtcttcccagagcgcgtacgg	11	15	1	1			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr8:145096207A>G	ENST00000377470.3	+	4	1483	c.1381A>G	c.(1381-1383)Atc>Gtc	p.I461V	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	461										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGTCCAGCATCTTCCCAGA	0.632													False	0	False	8:145096207	0	G	145096207	A	G	145096207	3	3	72	1	0	0	0	0	1	0	0	0	15099	217	8	4	1395	4	SPATC1	8	145096207	Missense_Mutation	SNP	A	TCGA-HZ-A49G-01A-11D-A26I-08	39639542	145096207	1267815	23	6061											
INSL4	3641	broad.mit.edu	37	chr9	5233847	5233847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtgaagtaatttgtgaCgatggaacttcagttaaatt	10	3	1	2			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr9:5233847C>T	ENST00000239316.4	+	2	495	c.390C>T	c.(388-390)gaC>gaT	p.D130D		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	130					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		TAATTTGTGACGATGGAACTT	0.378													False	0	False	9:5233847	0	T	5233847	C	T	5233847	2	4	72	1	0	0	0	0	0	0	0	1	7818	535	19	1		1	INSL4	9	5233847	Silent	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08		5233847	135979584	24	6062											
CDKN2A	1029	broad.mit.edu	37	chr9	21971003	21971003	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcgcgatggcccagctcctCagccaggtccacgggcagac	12	16	1	1			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr9:21971003C>T	ENST00000304494.5	-	2	625	c.355G>A	c.(355-357)Gag>Aag	p.E119K	CDKN2A_ENST00000497750.1_Missense_Mutation_p.E68K|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000361570.3_Silent_p.*174*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000579755.1_Silent_p.*133*|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E68K|CDKN2A_ENST00000530628.2_Silent_p.*133*|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E119K	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	119			E -> Q (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCAGCTCCTCAGCCAGGTCC	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	False	9:21971003	0	T	21971003	C	T	21971003	3	4	72	1	0	0	0	0	1	0	0	0	3184	838	29	2	123	2	CDKN2A	9	21971003	Missense_Mutation	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08	16737156	21971003	119242428	25	6063											
ANXA11	311	broad.mit.edu	37	chr10	81930573	81930573	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caccattcccgagagatagtCctggttgaactgccccgcat	9	14	0	2			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr10:81930573C>A	ENST00000438331.1	-	5	636	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	ANXA11_ENST00000372231.3_Missense_Mutation_p.D52Y|ANXA11_ENST00000265447.4_Missense_Mutation_p.D52Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D52Y|ANXA11_ENST00000535999.1_Missense_Mutation_p.D52Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D19Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D52Y	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	52					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GAGAGATAGTCCTGGTTGAAC	0.652													False	0	False	10:81930573	0	A	81930573	C	A	81930573	3	1	72	1	0	0	0	0	1	0	0	0	716	855	30	3	1415	3	ANXA11	10	81930573	Missense_Mutation	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08		81930573	53604174	26	6064											
CNGA4	1262	broad.mit.edu	37	chr11	6262838	6262838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctggtgctgaagctgcaGccccagacctactcaccagg	12	14	1	2			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:6262838G>A	ENST00000379936.2	+	5	1210	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	CNGA4_ENST00000533426.1_Silent_p.Q134Q	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	365					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAGCTGCAGCCCCAGACCT	0.567													False	0	True	11:6262838	0	A	6262838	G	A	6262838	2	1	72	1	0	0	0	0	0	0	0	1	3622	962	34	2		2	CNGA4	11	6262838	Silent	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08		6262838	128743678	27	6065											
CTR9	9646	broad.mit.edu	37	chr11	10785352	10785352	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaagcttatcctaatAattacgaaactatgaaaatt	4	5	0	2			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:10785352A>C	ENST00000361367.2	+	9	1546	c.1120A>C	c.(1120-1122)Aat>Cat	p.N374H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	374					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTATCCTAATAATTACGAAAC	0.358													False	0	False	11:10785352	0	C	10785352	A	C	10785352	3	2	72	1	0	0	0	0	1	0	0	0	4049	362	13	4	1154	4	CTR9	11	10785352	Missense_Mutation	SNP	A	TCGA-HZ-A49G-01A-11D-A26I-08	4522514	10785352	124221164	28	6066											
CD44	960	broad.mit.edu	37	chr11	35227738	35227738	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agttcctggactgatttcttCaacccaatctcacaccccat	4	15	3	1			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:35227738C>T	ENST00000428726.2	+	11	1485	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	CD44_ENST00000415148.2_Silent_p.F411F|CD44_ENST00000434472.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000433354.2_Silent_p.F455F|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Silent_p.F411F|CD44_ENST00000352818.4_Intron|CD44_ENST00000437706.2_Silent_p.F454F|CD44_ENST00000433892.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	454	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CTGATTTCTTCAACCCAATCT	0.468													False	0	False	11:35227738	0	T	35227738	C	T	35227738	2	4	72	1	0	0	0	0	0	0	0	1	3040	825	29	2		2	CD44	11	35227738	Silent	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08	24442386	35227738	99778778	29	6067											
CKAP5	9793	broad.mit.edu	37	chr11	46782199	46782199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcagctggtcccttgcGtaacatgttggcattggagc	12	11	1	0			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:46782199G>A	ENST00000529230.1	-	33	4403	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1453					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	p.R1453C(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGTCCCTTGCGTAACATGTTG	0.483													False	0	False	11:46782199	0	A	46782199	G	A	46782199	3	1	72	1	0	0	0	0	1	0	0	0	3468	1145	40	1	1789	1	CKAP5	11	46782199	Missense_Mutation	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08	11554461	46782199	88224317	30	6068											
RTN3	10313	broad.mit.edu	37	chr11	63486571	63486571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaggctaaaactgcattGgatgctgatgacagattcac	12	7	1	3			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:63486571G>A	ENST00000377819.5	+	3	751	c.597G>A	c.(595-597)ttG>ttA	p.L199L	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Silent_p.L180L|RTN3_ENST00000540798.1_Silent_p.L87L|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	199					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAACTGCATTGGATGCTGATG	0.413													False	0	False	11:63486571	0	A	63486571	G	A	63486571	2	1	72	1	0	0	0	0	0	0	0	1	13806	1339	47	2		2	RTN3	11	63486571	Silent	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08	16704372	63486571	71519945	31	6069											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	72	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08		25398284	108453611	32	6070											
LRRK2	120892	broad.mit.edu	37	chr12	40677757	40677757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaagatgtacgaaaagcGttgacgataagcattgggaa	12	5	0	2	rs146103273	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr12:40677757G>A	ENST00000298910.7	+	19	2380	c.2322G>A	c.(2320-2322)gcG>gcA	p.A774A	LRRK2_ENST00000343742.2_Silent_p.A774A	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	774					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TACGAAAAGCGTTGACGATAA	0.433													False	0	False	12:40677757	0	A	40677757	G	A	40677757	2	1	72	1	0	0	0	0	0	0	0	1	9095	1132	40	1		1	LRRK2	12	40677757	Silent	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08	15279473	40677757	93174138	33	6071											
TPP2	7174	broad.mit.edu	37	chr13	103299607	103299607	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactactttgtgaactattAtatgaatctgaatttgacag	6	7	1	4			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr13:103299607A>G	ENST00000376052.3	+	21	2557	c.2541A>G	c.(2539-2541)ttA>ttG	p.L847L	TPP2_ENST00000376065.4_Silent_p.L847L			P29144	TPP2_HUMAN	tripeptidyl peptidase II	847					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGAACTATTATATGAATCTG	0.368													False	0	False	13:103299607	0	G	103299607	A	G	103299607	2	3	72	1	0	0	0	0	0	0	0	1	16495	446	16	4		4	TPP2	13	103299607	Silent	SNP	A	TCGA-HZ-A49G-01A-11D-A26I-08		103299607	11870271	34	6072											
TM9SF1	10548	broad.mit.edu	37	chr14	24659700	24659700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgcatcaaaggggctgGcgttgttcttcccaaagatg	14	8	2	1			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr14:24659700G>A	ENST00000556387.1	-	9	1973	c.1940C>T	c.(1939-1941)gCc>gTc	p.A647V	TM9SF1_ENST00000528669.1_Missense_Mutation_p.A438V|TM9SF1_ENST00000396854.4_Missense_Mutation_p.A438V|TM9SF1_ENST00000524835.1_Missense_Mutation_p.A351V|TM9SF1_ENST00000261789.4_Missense_Mutation_p.A438V|TM9SF1_ENST00000530611.1_Missense_Mutation_p.A647V			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	438					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AAAGGGGCTGGCGTTGTTCTT	0.577													False	0	False	14:24659700	0	A	24659700	G	A	24659700	3	1	72	1	0	0	0	0	1	0	0	0	16059	1203	42	2	558	2	TM9SF1	14	24659700	Missense_Mutation	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08		24659700	82689840	35	6073											
TYRO3	7301	broad.mit.edu	37	chr15	41857341	41857342	+	Splice_Site	INS	-	-	G													cagtcctgtacagttcaggtINSaggctctccgggccgggcca							TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579													False	0	False	15:41857341	0	G	41857342	-	G	41857341	8	5	72	1	0	1	1	0	0	0	1	0	16898	1652	57	0	807	0	TYRO3	15	41857341	Splice_Site	INS	-	TCGA-HZ-A49G-01A-11D-A26I-08		41857341	60674051	36	6074											
WWP2	11060	broad.mit.edu	37	chr16	69973005	69973005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacctgccgcctgcccgtcGggggatttgccgaactcatc	12	15	1	0			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr16:69973005G>A	ENST00000359154.2	+	22	2520	c.2419G>A	c.(2419-2421)Ggg>Agg	p.G807R	WWP2_ENST00000568684.1_Missense_Mutation_p.G368R|WWP2_ENST00000542271.1_Missense_Mutation_p.G691R|WWP2_ENST00000448661.1_Missense_Mutation_p.G807R|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Missense_Mutation_p.G807R	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	807	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGCCCGTCGGGGGATTTGC	0.597													False	0	True	16:69973005	0	A	69973005	G	A	69973005	3	1	72	1	0	0	0	0	1	0	0	0	17500	1116	39	1	2505	1	WWP2	16	69973005	Missense_Mutation	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08		69973005	20381748	37	6075											
TP53	7157	broad.mit.edu	37	chr17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtctctcccaggacaggcaCaaacacgcacctcaaagctg	9	15	2	0			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGACAGGCACAAACACGCAC	0.552		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)			False	0	True	17:7577114	0	A	7577114	C	A	7577114	3	1	72	1	0	0	0	0	1	0	0	0	16464	478	17	3	462	3	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08		7577114	73618096	38	6076											
C3	718	broad.mit.edu	37	chr19	6710823	6710823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgggctctcgcacctggcGtcccgccttcaacagcctgc	11	19	2	0			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:6710823G>A	ENST00000245907.6	-	13	1605	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	505					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGCACCTGGCGTCCCGCCTTC	0.652													False	0	False	19:6710823	0	A	6710823	G	A	6710823	3	1	72	1	0	0	0	0	1	0	0	0	2220	1145	40	1	3594	1	C3	19	6710823	Missense_Mutation	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08		6710823	52418160	39	6077											
C3	718	broad.mit.edu	37	chr19	6718398	6718398	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acttgttgcgccccttttctGacttgaactccctgttggct	8	13	1	2			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:6718398G>C	ENST00000245907.6	-	3	385	c.293C>G	c.(292-294)tCa>tGa	p.S98*		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	98					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCCCTTTTCTGACTTGAACTC	0.617													False	0	False	19:6718398	0	C	6718398	G	C	6718398	4	2	72	1	0	0	0	0	0	1	0	0	2220	1294	45	5	4854	5	C3	19	6718398	Nonsense_Mutation	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08	7575	6718398	52410585	40	6078											
S1PR2	9294	broad.mit.edu	37	chr19	10334708	10334708	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgccgcaggtcccggcTgcgccacgtgtagatgacgg	14	16	0	2			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:10334708T>C	ENST00000590320.1	-	2	984	c.874A>G	c.(874-876)Agc>Ggc	p.S292G		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	292					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGGTCCCGGCTGCGCCACGTG	0.687													False	0	False	19:10334708	0	C	10334708	T	C	10334708	3	2	72	1	0	0	0	0	1	0	0	0	13873	1580	55	4	191	4	S1PR2	19	10334708	Missense_Mutation	SNP	T	TCGA-HZ-A49G-01A-11D-A26I-08	3616310	10334708	48794275	41	6079											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	72	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-HZ-A49G-01A-11D-A26I-08	3748959	14083667	45045316	42	6080											
TMEM145	284339	broad.mit.edu	37	chr19	42821981	42821981	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgtctcactgcgacacTttcctgagaagcagcctttt	8	12	1	1			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:42821981T>A	ENST00000598766.1	+	12	1093	c.1093T>A	c.(1093-1095)Ttt>Att	p.F365I	TMEM145_ENST00000301204.3_Missense_Mutation_p.F341I			Q8NBT3	TM145_HUMAN	transmembrane protein 145	341						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACTGCGACACTTTCCTGAGAA	0.587													False	0	True	19:42821981	0	A	42821981	T	A	42821981	3	1	72	1	0	0	0	0	1	0	0	0	16141	1609	56	5	1067	5	TMEM145	19	42821981	Missense_Mutation	SNP	T	TCGA-HZ-A49G-01A-11D-A26I-08	28738314	42821981	16307002	43	6081											
PSG8	0	broad.mit.edu	37	chr19	43268187	43268187	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggatcagcagggatgcaTtggaatatattgtttctcgt	11	6	3	0			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:43268187T>C	ENST00000404209.4	-	2	407	c.311A>G	c.(310-312)aAt>aGt	p.N104S	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.N104S|PSG8_ENST00000306511.4_Missense_Mutation_p.N104S	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	104	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CAGGGATGCATTGGAATATAT	0.423													False	0	False	19:43268187	0	C	43268187	T	C	43268187	3	2	72	1	0	0	0	0	1	0	0	0	12737	1493	52	4	1006	4	PSG8	19	43268187	Missense_Mutation	SNP	T	TCGA-HZ-A49G-01A-11D-A26I-08	446206	43268187	15860796	44	6082											
LIG1	3978	broad.mit.edu	37	chr19	48654515	48654515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttaggggcttgggaggcGtggtgggctggtccccgtct	18	9	2	0			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:48654515G>A	ENST00000263274.7	-	7	967	c.548C>T	c.(547-549)aCg>aTg	p.T183M	LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000427526.2_Missense_Mutation_p.T152M|LIG1_ENST00000536218.1_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	183					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTGGGAGGCGTGGTGGGCTG	0.567								Nucleotide excision repair (NER)					False	0	False	19:48654515	0	A	48654515	G	A	48654515	3	1	72	1	0	0	0	0	1	0	0	0	8833	1145	40	1	2299	1	LIG1	19	48654515	Missense_Mutation	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08	5386328	48654515	10474468	45	6083											
PAX1	5075	broad.mit.edu	37	chr20	21689881	21689881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctccaccctctctgccGtgggcggctttctccccgcc	10	21	2	0			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr20:21689881G>A	ENST00000398485.2	+	4	1135	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M	PAX1_ENST00000444366.2_Missense_Mutation_p.V337M|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	361					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCTCTCTGCCGTGGGCGGCTT	0.697													False	0	False	20:21689881	0	A	21689881	G	A	21689881	3	1	72	1	0	0	0	0	1	0	0	0	11546	1145	40	1	1095	1	PAX1	20	21689881	Missense_Mutation	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08		21689881	41335639	46	6084											
GGTLC1	92086	broad.mit.edu	37	chr20	23966551	23966551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcagctcccaccaccatcCggacctggccgtcctggccc	10	21	0	0	rs143742821	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr20:23966551C>T	ENST00000335694.4	-	4	569	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	GGTLC1_ENST00000286890.4_Missense_Mutation_p.R122Q|GGTLC1_ENST00000278765.4_Missense_Mutation_p.R122Q	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	122							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CACCACCATCCGGACCTGGCC	0.662													False	0	False	20:23966551	0	T	23966551	C	T	23966551	3	4	72	1	0	0	0	0	1	0	0	0	6410	652	23	1	324	1	GGTLC1	20	23966551	Missense_Mutation	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08	2276670	23966551	39058969	47	6085											
PTPRT	11122	broad.mit.edu	37	chr20	41101179	41101179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgatgtctacgatttccaCgttctgtgggccatgtaccg	10	11	3	1			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr20:41101179C>T	ENST00000373198.4	-	8	1412	c.1177G>A	c.(1177-1179)Gtg>Atg	p.V393M	PTPRT_ENST00000373187.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373190.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373184.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373201.1_Missense_Mutation_p.V393M|PTPRT_ENST00000356100.2_Missense_Mutation_p.V393M|PTPRT_ENST00000373193.3_Missense_Mutation_p.V393M	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACGATTTCCACGTTCTGTGGG	0.562													False	0	False	20:41101179	0	T	41101179	C	T	41101179	3	4	72	1	0	0	0	0	1	0	0	0	12891	536	19	1	3305	1	PTPRT	20	41101179	Missense_Mutation	SNP	C	TCGA-HZ-A49G-01A-11D-A26I-08	17134628	41101179	21924341	48	6086											
PRAME	23532	broad.mit.edu	37	chr22	22892513	22892513	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcgcttcactttctcAatgaggtaggagaacaattc	7	9	3	2			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr22:22892513A>C	ENST00000543184.1	-	4	1450	c.588T>G	c.(586-588)atT>atG	p.I196M	PRAME_ENST00000424204.2_Missense_Mutation_p.I180M|PRAME_ENST00000398741.1_Missense_Mutation_p.I196M|PRAME_ENST00000398743.2_Missense_Mutation_p.I196M|PRAME_ENST00000405655.3_Missense_Mutation_p.I196M|PRAME_ENST00000402697.1_Missense_Mutation_p.I196M|PRAME_ENST00000539862.1_Missense_Mutation_p.I180M	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	196					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCACTTTCTCAATGAGGTAGG	0.458													False	0	False	22:22892513	0	C	22892513	A	C	22892513	3	2	72	1	0	0	0	0	1	0	0	0	12498	126	5	4	949	4	PRAME	22	22892513	Missense_Mutation	SNP	A	TCGA-HZ-A49G-01A-11D-A26I-08		22892513	28412053	49	6087											
ARX	170302	broad.mit.edu	37	chrX	25033684	25033684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccttttccgggtcggcGcggctggtcagcggagcagg	18	12	1	0			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chrX:25033684G>A	ENST00000379044.4	-	1	381	c.171C>T	c.(169-171)cgC>cgT	p.R57R		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	57						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CCGGGTCGGCGCGGCTGGTCA	0.627													False	0	False	X:25033684	0	A	25033684	G	A	25033684	2	1	72	1	0	0	0	0	0	0	0	1	1008	1074	38	1		1	ARX	23	25033684	Silent	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08		25033684	130236876	50	6088											
BEX2	84707	broad.mit.edu	37	chrX	102564742	102564742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgcctaacgcggaaccGcctacggtttcctctaggca	12	14	1	0	rs149711551	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chrX:102564742G>A	ENST00000536889.1	-	3	616	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	BEX2_ENST00000372674.1_Missense_Mutation_p.R55W|BEX2_ENST00000372677.3_Missense_Mutation_p.R55W	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	55					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						ACGCGGAACCGCCTACGGTTT	0.478													False	0	False	X:102564742	0	A	102564742	G	A	102564742	3	1	72	1	0	0	0	0	1	0	0	0	1416	1086	38	1	227	1	BEX2	23	102564742	Missense_Mutation	SNP	G	TCGA-HZ-A49G-01A-11D-A26I-08	77531058	102564742	52705818	51	6089											
IRS4	8471	broad.mit.edu	37	chrX	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-													ctgctgctagagctgccgctGccgccgctgctgcacctctt					rs2073114	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616													False	2	True	X:107979510	0	-	107979512	GCC	-	107979510	7	5	72	1	0	1	0	1	0	0	0	0	7892	1319	46	0	3712	0	IRS4	23	107979510	In_Frame_Del	DEL	GCC	TCGA-HZ-A49G-01A-11D-A26I-08	5414768	107979510	47291050	52	6090											
PADI1	29943	broad.mit.edu	37	chr1	17570638	17570638	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctgcactgcatcttcattgAtgactacttgtcctaccacg	6	14	2	2			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:17570638A>T	ENST00000375471.4	+	16	1984	c.1892A>T	c.(1891-1893)gAt>gTt	p.D631V	PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000536552.1_Missense_Mutation_p.D102V|PADI1_ENST00000413717.2_Missense_Mutation_p.D146V|PADI1_ENST00000537499.1_Missense_Mutation_p.D188V	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	631					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ATCTTCATTGATGACTACTTG	0.592													False	0	False	1:17570638	0	T	17570638	A	T	17570638	3	4	73	1	0	0	0	0	1	0	0	0	11445	333	12	5	1954	5	PADI1	1	17570638	Missense_Mutation	SNP	A	TCGA-HZ-A49H-01A-11D-A26I-08		17570638	231679983	1	6091											
GRIK3	2899	broad.mit.edu	37	chr1	37324731	37324731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgatgaagttcatgaagCggccgccaaagcgccaggcc	12	13	1	3			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:37324731C>T	ENST00000373091.3	-	7	1098	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	361					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.R361H(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTTCATGAAGCGGCCGCCAAA	0.627													False	0	False	1:37324731	0	T	37324731	C	T	37324731	3	4	73	1	0	0	0	0	1	0	0	0	6822	768	27	1	1717	1	GRIK3	1	37324731	Missense_Mutation	SNP	C	TCGA-HZ-A49H-01A-11D-A26I-08	19754093	37324731	211925890	2	6092											
DMAP1	55929	broad.mit.edu	37	chr1	44680450	44680450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaagttgggctccaagaaGgtgcggccttggaagtggat	16	8	0	1			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:44680450G>A	ENST00000372289.2	+	3	536	c.273G>A	c.(271-273)aaG>aaA	p.K91K	DMAP1_ENST00000361745.6_Silent_p.K91K|DMAP1_ENST00000315913.5_Silent_p.K91K	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	91					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GCTCCAAGAAGGTGCGGCCTT	0.612													False	0	False	1:44680450	0	A	44680450	G	A	44680450	2	1	73	1	0	0	0	0	0	0	0	1	4606	991	35	2		2	DMAP1	1	44680450	Silent	SNP	G	TCGA-HZ-A49H-01A-11D-A26I-08	7355719	44680450	204570171	3	6093											
RBM15	64783	broad.mit.edu	37	chr1	110883698	110883698	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcttttggacatcgggcAccagaccctttgaggggtgc	14	10	0	2			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:110883698A>C	ENST00000369784.3	+	1	2571	c.1671A>C	c.(1669-1671)gcA>gcC	p.A557A	RBM15_ENST00000487146.2_Silent_p.A557A|RBM15_ENST00000602849.1_Silent_p.A557A	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	557					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GACATCGGGCACCAGACCCTT	0.532			T	MKL1	acute megakaryocytic leukemia								False	0	False	1:110883698	0	C	110883698	A	C	110883698	2	2	73	1	0	0	0	0	0	0	0	1	13195	146	6	4		4	RBM15	1	110883698	Silent	SNP	A	TCGA-HZ-A49H-01A-11D-A26I-08	66203248	110883698	138366923	4	6094											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	73	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-HZ-A49H-01A-11D-A26I-08	41787817	152671515	96579106	5	6095											
OR2T4	127074	broad.mit.edu	37	chr1	248525639	248525639	+	Frame_Shift_Del	DEL	A	A	-													tttcaagctcctatttactcAtcctcctcaccatccacggg					rs34079073		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:248525639delA	ENST00000366475.1	+	1	757	c.757delA	c.(757-759)atcfs	p.I253fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTATTTACTCATCCTCCTCAC	0.522													False	1	False	1:248525639	0	-	248525639	A	-	248525639	7	5	73	1	0	1	0	1	0	0	0	0	11095	217	8	0	759	0	OR2T4	1	248525639	Frame_Shift_Del	DEL	A	TCGA-HZ-A49H-01A-11D-A26I-08	95854124	248525639	724982	6	6096											
CCDC93	54520	broad.mit.edu	37	chr2	118705727	118705727	+	Frame_Shift_Del	DEL	T	T	-													cttgacttttcagattttcaTtcatggctacaagtgctctc							TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr2:118705727delT	ENST00000376300.2	-	15	1315	c.1178delA	c.(1177-1179)aatfs	p.N393fs	CCDC93_ENST00000319432.5_Frame_Shift_Del_p.N392fs	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	393										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CAGATTTTCATTCATGGCTAC	0.373													False	2	True	2:118705727	0	-	118705727	T	-	118705727	7	5	73	1	0	1	0	1	0	0	0	0	2893	1493	52	0	757	0	CCDC93	2	118705727	Frame_Shift_Del	DEL	T	TCGA-HZ-A49H-01A-11D-A26I-08		118705727	124493646	7	6097											
P2RY13	53829	broad.mit.edu	37	chr3	151045999	151046002	+	Frame_Shift_Del	DEL	TGAC	TGAC	-													agtcagtcttattgttggttTgactgtgagtatatggaact							TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	TGAC	TGAC	-	-	TGAC	TGAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr3:151045999_151046002delTGAC	ENST00000325602.5	-	2	861_864	c.842_845delGTCA	c.(841-846)agtcaafs	p.SQ281fs	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	281						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			ATTGTTGGTTTGACTGTGAGTATA	0.368													False	1	False	3:151045999	0	-	151046002	TGAC	-	151045999	7	5	73	1	0	1	0	1	0	0	0	0	11418	1812	63	0	223	0	P2RY13	3	151045999	Frame_Shift_Del	DEL	TGAC	TCGA-HZ-A49H-01A-11D-A26I-08		151045999	46976431	8	6098											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	73	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-HZ-A49H-01A-11D-A26I-08		40434705	150719571	9	6099											
ADAMTS12	81792	broad.mit.edu	37	chr5	33616037	33616037	+	Missense_Mutation	SNP	T	T	G													tgccagcttatagttcccgtTccactggataataaaccctc							TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr5:33616037T>G	ENST00000504830.1	-	15	2619	c.2284A>C	c.(2284-2286)Aac>Cac	p.N762H	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N677H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	762	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTTCCCGTTCCACTGGATA	0.468										HNSCC(64;0.19)			False	0	False	5:33616037	0	G	33616037	T	G	33616037	3	3	73	1	0	0	0	0	1	0	0	0	257	1783	62	4	2540	4	ADAMTS12	5	33616037	Missense_Mutation	SNP	T	TCGA-HZ-A49H-01A-11D-A26I-08		33616037	147299223	10	6100	118	2									
ADAMTS12	81792	broad.mit.edu	37	chr5	33616038	33616038	+	Nonsense_Mutation	SNP	C	C	T													gccagcttatagttcccgttCcactggataataaaccctcc							TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr5:33616038C>T	ENST00000504830.1	-	15	2618	c.2283G>A	c.(2281-2283)tgG>tgA	p.W761*	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W676*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	761	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.W761*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTTCCCGTTCCACTGGATAA	0.468										HNSCC(64;0.19)			False	0	False	5:33616038	0	T	33616038	C	T	33616038	4	4	73	1	0	0	0	0	0	1	0	0	257	856	30	2	2541	2	ADAMTS12	5	33616038	Nonsense_Mutation	SNP	C	TCGA-HZ-A49H-01A-11D-A26I-08	1	33616038	147299222	11	6101	118	2									
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	73	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-HZ-A49H-01A-11D-A26I-08	44994406	78610444	102304816	12	6102											
ATP10B	23120	broad.mit.edu	37	chr5	160034027	160034027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaaagagcttgcggtctgGcttctgtagttcacgaaatt	10	9	3	1			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr5:160034027G>A	ENST00000327245.5	-	19	3751	c.2905C>T	c.(2905-2907)Cca>Tca	p.P969S		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	969					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGCGGTCTGGCTTCTGTAGT	0.443													False	0	False	5:160034027	0	A	160034027	G	A	160034027	3	1	73	1	0	0	0	0	1	0	0	0	1121	1203	42	2	1512	2	ATP10B	5	160034027	Missense_Mutation	SNP	G	TCGA-HZ-A49H-01A-11D-A26I-08	81423583	160034027	20881233	13	6103											
NRSN1	140767	broad.mit.edu	37	chr6	24134622	24134622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgagggtggttaccagCgctatggagtccggtcctac	14	11	0	1	rs143725119		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr6:24134622C>T	ENST00000378491.4	+	3	368	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	NRSN1_ENST00000378478.1_Missense_Mutation_p.R23C|NRSN1_ENST00000378475.1_Missense_Mutation_p.R23C	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	23					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TGGTTACCAGCGCTATGGAGT	0.517													False	0	False	6:24134622	0	T	24134622	C	T	24134622	3	4	73	1	0	0	0	0	1	0	0	0	10730	768	27	1	69	1	NRSN1	6	24134622	Missense_Mutation	SNP	C	TCGA-HZ-A49H-01A-11D-A26I-08		24134622	146980445	14	6104											
CLIC1	1192	broad.mit.edu	37	chr6	31704066	31704068	+	In_Frame_Del	DEL	TTC	TTC	-													aacaattcgacctgcggttgTtcttcagccatggttgcgtc					rs76092441		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	TTC	TTC	-	-	TTC	TTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr6:31704066_31704068delTTC	ENST00000375780.2	-	2	582_584	c.10_12delGAA	c.(10-12)gaadel	p.E4del	CLIC1_ENST00000375779.2_In_Frame_Del_p.E4del|CLIC1_ENST00000395892.1_In_Frame_Del_p.E4del|CLIC1_ENST00000375784.3_In_Frame_Del_p.E4del			O00299	CLIC1_HUMAN	chloride intracellular channel 1	4	Required for insertion into the membrane.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	p.E4E(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						CCTGCGGTTGTTCTTCAGCCATG	0.596													False	2	False	6:31704066	0	-	31704068	TTC	-	31704066	7	5	73	1	0	1	0	1	0	0	0	0	3548	1722	60	0	737	0	CLIC1	6	31704066	In_Frame_Del	DEL	TTC	TCGA-HZ-A49H-01A-11D-A26I-08	7569444	31704066	139411001	15	6105											
ZBTB22	0	broad.mit.edu	37	chr6	33284203	33284203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagggacagtgacagagGtggctgcagcagtagtgatg	16	8	0	3			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr6:33284203G>A	ENST00000431845.2	-	2	642	c.491C>T	c.(490-492)aCc>aTc	p.T164I	ZBTB22_ENST00000418724.1_Missense_Mutation_p.T164I	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGTGACAGAGGTGGCTGCAGC	0.642													False	0	False	6:33284203	0	A	33284203	G	A	33284203	3	1	73	1	0	0	0	0	1	0	0	0	17613	1261	44	2	1417	2	ZBTB22	6	33284203	Missense_Mutation	SNP	G	TCGA-HZ-A49H-01A-11D-A26I-08	1580137	33284203	137830864	16	6106											
GRM1	2911	broad.mit.edu	37	chr6	146720262	146720262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaagaagatctgcacccGgaagcccaggttcatgagtg	12	10	2	4			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr6:146720262G>A	ENST00000392299.2	+	8	2557	c.2087G>A	c.(2086-2088)cGg>cAg	p.R696Q	GRM1_ENST00000507907.1_Missense_Mutation_p.R696Q|GRM1_ENST00000361719.2_Missense_Mutation_p.R696Q|GRM1_ENST00000492807.2_Missense_Mutation_p.R696Q|GRM1_ENST00000282753.1_Missense_Mutation_p.R696Q|GRM1_ENST00000355289.4_Missense_Mutation_p.R696Q			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	696			R -> W (in a colorectal cancer sample; somatic mutation).		synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATCTGCACCCGGAAGCCCAGG	0.512													False	0	True	6:146720262	0	A	146720262	G	A	146720262	3	1	73	1	0	0	0	0	1	0	0	0	6843	1116	39	1	2113	1	GRM1	6	146720262	Missense_Mutation	SNP	G	TCGA-HZ-A49H-01A-11D-A26I-08	113436059	146720262	24394805	17	6107											
KIAA1967	0	broad.mit.edu	37	chr8	22476436	22476437	+	Frame_Shift_Del	DEL	TT	TT	-													gtcccacaatggcagcctgaTtaacgtggggagcctgctgc							TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr8:22476436_22476437delTT	ENST00000308511.4	+	19	2678_2679	c.2429_2430delTT	c.(2428-2430)attfs	p.I810fs	KIAA1967_ENST00000520861.1_Frame_Shift_Del_p.I485fs|KIAA1967_ENST00000389279.3_Frame_Shift_Del_p.I810fs			Q8N163	K1967_HUMAN		810					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGCAGCCTGATTAACGTGGGGA	0.619													False	2	False	8:22476436	0	-	22476437	TT	-	22476436	7	5	73	1	0	1	0	1	0	0	0	0	8315	1493	52	0	2499	0	KIAA1967	8	22476436	Frame_Shift_Del	DEL	TT	TCGA-HZ-A49H-01A-11D-A26I-08		22476436	123887586	18	6108											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123253652	123253652	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgctcttgattgtgcAattttttattgctttcactc	5	9	3	1			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr9:123253652A>C	ENST00000349780.4	-	13	1594	c.1415T>G	c.(1414-1416)tTg>tGg	p.L472W	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.L472W|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.L472W|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.L472W	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	472					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTGATTGTGCAATTTTTTATT	0.318													False	0	False	9:123253652	0	C	123253652	A	C	123253652	3	2	73	1	0	0	0	0	1	0	0	0	3169	131	5	4	4370	4	CDK5RAP2	9	123253652	Missense_Mutation	SNP	A	TCGA-HZ-A49H-01A-11D-A26I-08		123253652	17959779	19	6109											
GSN	2934	broad.mit.edu	37	chr9	124062285	124062285	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgcccgaggcgcgggTgagtgcccggggggccccgg	23	13	0	1			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000436847.1_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697													False	0	True	9:124062285	0	G	124062285	T	G	124062285	5	3	73	1	0	0	0	0	0	0	1	0	6872	1710	59	4	148	4	GSN	9	124062285	Splice_Site	SNP	T	TCGA-HZ-A49H-01A-11D-A26I-08	808633	124062285	17151146	20	6110											
PSD	5662	broad.mit.edu	37	chr10	104170669	104170669	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaggccctccaggttcccGatgaagtccccgcaggtcat	11	14	1	2			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr10:104170669G>A	ENST00000020673.5	-	10	2563	c.2037C>T	c.(2035-2037)atC>atT	p.I679I	PSD_ENST00000406432.1_Silent_p.I679I	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	679	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCAGGTTCCCGATGAAGTCCC	0.632													False	0	True	10:104170669	0	A	104170669	G	A	104170669	2	1	73	1	0	0	0	0	0	0	0	1	12722	1048	37	1		1	PSD	10	104170669	Silent	SNP	G	TCGA-HZ-A49H-01A-11D-A26I-08		104170669	31364078	21	6111											
NAA40	79829	broad.mit.edu	37	chr11	63720021	63720021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtttgacgtggagtgtgggGatgaagtcctgtactggtag	18	4	0	2			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr11:63720021G>A	ENST00000377793.4	+	5	495	c.394G>A	c.(394-396)Gat>Aat	p.D132N	NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000542163.1_Missense_Mutation_p.D111N|NAA40_ENST00000539656.1_Intron|NAA40_ENST00000456907.2_Missense_Mutation_p.D92N	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	132	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						GGAGTGTGGGGATGAAGTCCT	0.582													False	0	True	11:63720021	0	A	63720021	G	A	63720021	3	1	73	1	0	0	0	0	1	0	0	0	10192	1174	41	2	412	2	NAA40	11	63720021	Missense_Mutation	SNP	G	TCGA-HZ-A49H-01A-11D-A26I-08		63720021	71286495	22	6112											
SYTL2	54843	broad.mit.edu	37	chr11	85422269	85422270	+	Frame_Shift_Ins	INS	-	-	A													gctgtatctgtttctctgtcINSatcactctacaaaacagcat							TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr11:85422269_85422270insA	ENST00000525423.1	-	5	4253_4254	c.2682_2683insT	c.(2680-2685)gatgacfs	p.D895fs	SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.D911fs|SYTL2_ENST00000316356.4_Frame_Shift_Ins_p.D574fs|SYTL2_ENST00000525702.1_Frame_Shift_Ins_p.D15fs|SYTL2_ENST00000389958.3_Frame_Shift_Ins_p.D4fs|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000529581.1_Frame_Shift_Ins_p.D15fs|SYTL2_ENST00000528231.1_Frame_Shift_Ins_p.D573fs|SYTL2_ENST00000527523.1_Frame_Shift_Ins_p.D541fs|SYTL2_ENST00000533892.1_Intron|SYTL2_ENST00000359152.5_Frame_Shift_Ins_p.D1419fs			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	573					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTTTCTCTGTCATCACTCTACA	0.401													False	1	False	11:85422269	0	A	85422270	-	A	85422269	7	5	73	1	0	1	1	0	0	0	0	0	15565	826	29	0	1119	0	SYTL2	11	85422269	Frame_Shift_Ins	INS	-	TCGA-HZ-A49H-01A-11D-A26I-08	21702248	85422269	49584247	23	6113											
FAT3	120114	broad.mit.edu	37	chr11	92533399	92533399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatatgtgagtgaattagCcccccggggccattttgtaa	11	9	1	2			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr11:92533399C>T	ENST00000298047.6	+	9	7237	c.7220C>T	c.(7219-7221)gCc>gTc	p.A2407V	FAT3_ENST00000525166.1_Missense_Mutation_p.A2257V|FAT3_ENST00000409404.2_Missense_Mutation_p.A2407V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2407	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGAATTAGCCCCCCGGGGC	0.443										TCGA Ovarian(4;0.039)			False	0	True	11:92533399	0	T	92533399	C	T	92533399	3	4	73	1	0	0	0	0	1	0	0	0	5731	739	26	2	7254	2	FAT3	11	92533399	Missense_Mutation	SNP	C	TCGA-HZ-A49H-01A-11D-A26I-08	7111130	92533399	42473117	24	6114											
DCP1B	196513	broad.mit.edu	37	chr12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG													gctgctgctgctgctgctgcINStggtggagagtctgcggagg							TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr12:2062350_2062351insTGG	ENST00000540622.1	-	4	435_436	c.377_378insCCA	c.(376-378)cag>caCCAg	p.125_126insH	DCP1B_ENST00000280665.6_In_Frame_Ins_p.251_252insH|DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH|DCP1B_ENST00000541700.1_5'UTR			Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.55													False	2	True	12:2062350	0	TGG	2062351	-	TGG	2062350	7	5	73	1	0	1	1	0	0	0	0	0	4324	796	28	0	1109	0	DCP1B	12	2062350	In_Frame_Ins	INS	-	TCGA-HZ-A49H-01A-11D-A26I-08		2062350	131789545	25	6115											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	73	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A49H-01A-11D-A26I-08	23335934	25398284	108453611	26	6116											
CPNE6	9362	broad.mit.edu	37	chr14	24546432	24546432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagactcgcactgctatcGtgcgtgcctcccgcctgccc	10	18	0	1			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr14:24546432G>A	ENST00000397016.2	+	16	1680	c.1369G>A	c.(1369-1371)Gtg>Atg	p.V457M	CPNE6_ENST00000537691.1_Missense_Mutation_p.V512M|CPNE6_ENST00000216775.2_Missense_Mutation_p.V457M	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	457	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CACTGCTATCGTGCGTGCCTC	0.617													False	0	True	14:24546432	0	A	24546432	G	A	24546432	3	1	73	1	0	0	0	0	1	0	0	0	3839	1145	40	1	1423	1	CPNE6	14	24546432	Missense_Mutation	SNP	G	TCGA-HZ-A49H-01A-11D-A26I-08		24546432	82803108	27	6117											
ACSM2A	123876	broad.mit.edu	37	chr16	20491925	20491925	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaagacagcagccaacattCgaggagacttttggctcctt	9	11	0	2			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr16:20491925C>T	ENST00000573854.1	+	11	1426	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.R359*|ACSM2A_ENST00000536134.1_Nonsense_Mutation_p.R210*|ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R438*	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	438					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCCAACATTCGAGGAGACTT	0.512													False	0	False	16:20491925	0	T	20491925	C	T	20491925	4	4	73	1	0	0	0	0	0	1	0	0	183	876	31	1	1350	1	ACSM2A	16	20491925	Nonsense_Mutation	SNP	C	TCGA-HZ-A49H-01A-11D-A26I-08		20491925	69862828	28	6118											
STAT3	6774	broad.mit.edu	37	chr17	40489864	40489864	+	Frame_Shift_Del	DEL	G	G	-													tgactggttgtttccattcaGatcttgcatgtctgcgaagg							TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr17:40489864delG	ENST00000264657.5	-	7	874	c.562delC	c.(562-564)ctgfs	p.L188fs	STAT3_ENST00000588969.1_Frame_Shift_Del_p.L188fs|STAT3_ENST00000389272.3_Frame_Shift_Del_p.L90fs|STAT3_ENST00000404395.3_Frame_Shift_Del_p.L188fs|STAT3_ENST00000585517.1_Frame_Shift_Del_p.L188fs	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	188					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTTCCATTCAGATCTTGCATG	0.517									Hyperimmunoglobulin E Recurrent Infection Syndrome				False	1	False	17:40489864	0	-	40489864	G	-	40489864	7	5	73	1	0	1	0	1	0	0	0	0	15348	933	33	0	1822	0	STAT3	17	40489864	Frame_Shift_Del	DEL	G	TCGA-HZ-A49H-01A-11D-A26I-08		40489864	40705346	29	6119											
ZNF532	55205	broad.mit.edu	37	chr18	56586416	56586416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcgagggaatcctccccGttaccaaaagaagtaaatga	8	9	0	2			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr18:56586416G>A	ENST00000336078.4	+	4	1673	c.897G>A	c.(895-897)ccG>ccA	p.P299P	ZNF532_ENST00000591083.1_Silent_p.P299P|ZNF532_ENST00000589288.1_Silent_p.P299P|ZNF532_ENST00000591808.1_Silent_p.P299P|ZNF532_ENST00000591230.1_Silent_p.P299P	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATCCTCCCCGTTACCAAAAG	0.542													False	0	True	18:56586416	0	A	56586416	G	A	56586416	2	1	73	1	0	0	0	0	0	0	0	1	18055	1132	40	1		1	ZNF532	18	56586416	Silent	SNP	G	TCGA-HZ-A49H-01A-11D-A26I-08		56586416	21490832	30	6120											
DOT1L	84444	broad.mit.edu	37	chr19	2210769	2210769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgaacactgcgaacccCgagcggaagcccaagaagaa	11	11	0	4			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr19:2210769C>T	ENST00000398665.3	+	14	1302	c.1266C>T	c.(1264-1266)ccC>ccT	p.P422P		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	422						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGAACCCCGAGCGGAAGC	0.632													False	0	True	19:2210769	0	T	2210769	C	T	2210769	2	4	73	1	0	0	0	0	0	0	0	1	4739	639	23	1		1	DOT1L	19	2210769	Silent	SNP	C	TCGA-HZ-A49H-01A-11D-A26I-08		2210769	56918214	31	6121											
ZNF284	342909	broad.mit.edu	37	chr19	44590411	44590411	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggagaaaaacctcatatTtgtgaggaatgtgggaaggc	13	5	1	2			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr19:44590411T>G	ENST00000421176.3	+	5	996	c.780T>G	c.(778-780)atT>atG	p.I260M	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AACCTCATATTTGTGAGGAAT	0.408													False	0	True	19:44590411	0	G	44590411	T	G	44590411	3	3	73	1	0	0	0	0	1	0	0	0	17904	1829	64	4	794	4	ZNF284	19	44590411	Missense_Mutation	SNP	T	TCGA-HZ-A49H-01A-11D-A26I-08	42379642	44590411	14538572	32	6122											
MOV10L1	54456	broad.mit.edu	37	chr22	50553049	50553049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaacagaggaatctctcCaggtagtggacgtttcggct	12	9	1	1			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr22:50553049C>T	ENST00000262794.5	+	7	1207	c.1124C>T	c.(1123-1125)cCa>cTa	p.P375L	MOV10L1_ENST00000540615.1_Missense_Mutation_p.P355L|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P375L|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.P375L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	375					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGAATCTCTCCAGGTAGTGGA	0.512													False	0	True	22:50553049	0	T	50553049	C	T	50553049	3	4	73	1	0	0	0	0	1	0	0	0	9786	594	21	2	1191	2	MOV10L1	22	50553049	Missense_Mutation	SNP	C	TCGA-HZ-A49H-01A-11D-A26I-08		50553049	751517	33	6123											
FAM47A	158724	broad.mit.edu	37	chrX	34149477	34149477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagatgggacagtggagtctCgaaaggccgaggacagaatt	16	6	1	2			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chrX:34149477C>T	ENST00000346193.3	-	1	970	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	307										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGTGGAGTCTCGAAAGGCCGA	0.612													False	0	False	X:34149477	0	T	34149477	C	T	34149477	3	4	73	1	0	0	0	0	1	0	0	0	5609	893	31	1	1460	1	FAM47A	23	34149477	Missense_Mutation	SNP	C	TCGA-HZ-A49H-01A-11D-A26I-08		34149477	121121083	34	6124											
IRS4	8471	broad.mit.edu	37	chrX	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-													ctgctgctagagctgccgctGccgccgctgctgcacctctt					rs2073114	byFrequency	TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616													False	2	True	X:107979510	0	-	107979512	GCC	-	107979510	7	5	73	1	0	1	0	1	0	0	0	0	7892	1319	46	0	3712	0	IRS4	23	107979510	In_Frame_Del	DEL	GCC	TCGA-HZ-A49H-01A-11D-A26I-08	73830033	107979510	47291050	35	6125											
HS6ST2	90161	broad.mit.edu	37	chrX	131762528	131762528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatttgcgttgttcctgaCgctttcgcctggcctcctga	10	12	0	2			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chrX:131762528C>T	ENST00000370836.2	-	4	1956	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	HS6ST2_ENST00000406696.3_Missense_Mutation_p.R240H|HS6ST2_ENST00000521489.1_Missense_Mutation_p.R554H|HS6ST2_ENST00000370833.2_Missense_Mutation_p.R408H	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	514						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TTGTTCCTGACGCTTTCGCCT	0.483													False	0	False	X:131762528	0	T	131762528	C	T	131762528	3	4	73	1	0	0	0	0	1	0	0	0	7418	536	19	1	280	1	HS6ST2	23	131762528	Missense_Mutation	SNP	C	TCGA-HZ-A49H-01A-11D-A26I-08	23783018	131762528	23508032	36	6126											
GPR50	9248	broad.mit.edu	37	chrX	150349558	150349569	+	In_Frame_Del	DEL	CACCACTGGCCA	CACCACTGGCCA	-													gccaccagccaccctaaaccCaccactggccacatcaagcc					rs113250614		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08	CACCACTGGCCA	CACCACTGGCCA	-	-	CACCACTGGCCA	CACCACTGGCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chrX:150349558_150349569delCACCACTGGCCA	ENST00000218316.3	+	2	1572_1583	c.1503_1514delCACCACTGGCCA	c.(1501-1515)cccaccactggccac>ccc	p.TTGH502del		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	502	Pro-rich.		Missing (lower fasting circulating triglyceride levels).		cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.T502_H505delTTGH(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTAAACCCACCACTGGCCACATCAAGCCA	0.608													False	1	False	X:150349558	0	-	150349569	CACCACTGGCCA	-	150349558	7	5	73	1	0	1	0	1	0	0	0	0	6743	581	21	0	1509	0	GPR50	23	150349558	In_Frame_Del	DEL	CACCACTGGCCA	TCGA-HZ-A49H-01A-11D-A26I-08	18587030	150349558	4921002	37	6127											
ZBTB17	7709	broad.mit.edu	37	chr1	16269204	16269204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacccggttgaagccacgccCacacttatcacacaggtaag	8	14	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:16269204C>A	ENST00000375733.2	-	14	2096	c.1858G>T	c.(1858-1860)Ggg>Tgg	p.G620W	ZBTB17_ENST00000375743.4_Missense_Mutation_p.G620W|ZBTB17_ENST00000537142.1_Missense_Mutation_p.G538W			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	620					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCCACGCCCACACTTATCA	0.612													False	0	True	1:16269204	0	A	16269204	C	A	16269204	3	1	74	1	0	0	0	0	1	0	0	0	17610	594	21	3	565	3	ZBTB17	1	16269204	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		16269204	232981417	1	6128											
EPHA8	2046	broad.mit.edu	37	chr1	22928191	22928191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcattcagaccatgcGggcccagctgaccagcaccc	12	16	1	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:22928191G>A	ENST00000166244.3	+	17	3047	c.2975G>A	c.(2974-2976)cGg>cAg	p.R992Q		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	992	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGACCATGCGGGCCCAGCTG	0.682													False	0	True	1:22928191	0	A	22928191	G	A	22928191	3	1	74	1	0	0	0	0	1	0	0	0	5205	1116	39	1	3214	1	EPHA8	1	22928191	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	6658987	22928191	226322430	2	6129											
ZC3H12A	80149	broad.mit.edu	37	chr1	37947235	37947235	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaactggagaagaagaAgatcctggtgttcacaccat	13	8	1	4			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:37947235A>T	ENST00000373087.6	+	4	733	c.617A>T	c.(616-618)aAg>aTg	p.K206M		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	206					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	p.K206R(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGAAGAAGAAGATCCTGGTG	0.607													False	0	True	1:37947235	0	T	37947235	A	T	37947235	3	4	74	1	0	0	0	0	1	0	0	0	17644	72	3	5	627	5	ZC3H12A	1	37947235	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08	15019044	37947235	211303386	3	6130											
MACF1	23499	broad.mit.edu	37	chr1	39950371	39950371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcaatagttcttccccGgcctccacaggtgccaaaac	7	16	1	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:39950371G>A	ENST00000564288.1	+	100	23157	c.22380G>A	c.(22378-22380)ccG>ccA	p.P7460P	MACF1_ENST00000545844.1_Silent_p.P5335P|MACF1_ENST00000361689.2_Silent_p.P5335P|MACF1_ENST00000289893.4_Silent_p.P5843P|MACF1_ENST00000567887.1_Silent_p.P7497P|MACF1_ENST00000539005.1_Silent_p.P5205P|MACF1_ENST00000317713.7_Silent_p.P5335P|MACF1_ENST00000372915.3_Silent_p.P7293P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7293					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTTCTTCCCCGGCCTCCACAG	0.488													False	0	True	1:39950371	0	A	39950371	G	A	39950371	2	1	74	1	0	0	0	0	0	0	0	1	9207	1103	39	1		1	MACF1	1	39950371	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	2003136	39950371	209300250	4	6131											
COL24A1	255631	broad.mit.edu	37	chr1	86372901	86372901	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcctttaggaccttgactCccaggtggtcctcttgcccc	9	15	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:86372901C>T	ENST00000370571.2	-	28	3120	c.2754G>A	c.(2752-2754)ggG>ggA	p.G918G	COL24A1_ENST00000436319.1_Silent_p.G918G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	918	Collagen-like 7.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GACCTTGACTCCCAGGTGGTC	0.348													False	0	True	1:86372901	0	T	86372901	C	T	86372901	2	4	74	1	0	0	0	0	0	0	0	1	3706	842	30	2		2	COL24A1	1	86372901	Silent	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	46422530	86372901	162877720	5	6132											
ADORA3	140	broad.mit.edu	37	chr1	112046027	112046027	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgagccagcaagatccGtctgtagggccagtgggcct	15	11	1	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:112046027G>A	ENST00000241356.4	-	0	355				ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_De_novo_Start_OutOfFrame	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor						activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGCAAGATCCGTCTGTAGGGC	0.542													False	0	False	1:112046027	0	A	112046027	G	A	112046027	1	1	74	1	0	0	0	0	0	0	0	0	329	1160	40	1		1	ADORA3	1	112046027	Translation_Start_Site	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	25673126	112046027	137204594	6	6133											
SEMA4A	64218	broad.mit.edu	37	chr1	156128241	156128241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacccatctctacacctgCggcaccttcgccttcagccc	6	20	3	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:156128241C>T	ENST00000368285.3	+	5	693	c.426C>T	c.(424-426)tgC>tgT	p.C142C	SEMA4A_ENST00000368282.1_Silent_p.C142C|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Silent_p.C142C|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000368286.2_Intron	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	142	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCTACACCTGCGGCACCTTCG	0.537													False	0	False	1:156128241	0	T	156128241	C	T	156128241	2	4	74	1	0	0	0	0	0	0	0	1	14112	776	27	1		1	SEMA4A	1	156128241	Silent	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	44082214	156128241	93122380	7	6134											
HSPA6	3310	broad.mit.edu	37	chr1	161495096	161495096	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggttctctccattgacgcTggtgtctttgaggtgaaagc	12	9	2	3			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:161495096T>G	ENST00000309758.4	+	1	1061	c.648T>G	c.(646-648)gcT>gcG	p.A216A	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	216					response to unfolded protein		ATP binding	p.A216A(1)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCATTGACGCTGGTGTCTTTG	0.597													False	0	False	1:161495096	0	G	161495096	T	G	161495096	2	3	74	1	0	0	0	0	0	0	0	1	7464	1567	55	4		4	HSPA6	1	161495096	Silent	SNP	T	TCGA-HZ-A49I-01A-12D-A26I-08	5366855	161495096	87755525	8	6135											
CEP350	9857	broad.mit.edu	37	chr1	180063129	180063129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcctcagttaatagaaGtagaagccttaaaatagaaa	8	5	1	4			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:180063129G>A	ENST00000367607.3	+	34	8307	c.7889G>A	c.(7888-7890)aGt>aAt	p.S2630N	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2630						centrosome|nucleus|spindle		p.S2630I(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTAATAGAAGTAGAAGCCTT	0.388													False	0	True	1:180063129	0	A	180063129	G	A	180063129	3	1	74	1	0	0	0	0	1	0	0	0	3277	1029	36	2	8019	2	CEP350	1	180063129	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	18568033	180063129	69187492	9	6136											
CR2	1380	broad.mit.edu	37	chr1	207647654	207647654	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggaatttggttcaaaaagaTtccactttgtaaaggtaagt	9	4	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:207647654T>A	ENST00000367057.3	+	13	2498	c.2309T>A	c.(2308-2310)aTt>aAt	p.I770N	CR2_ENST00000367058.3_Missense_Mutation_p.I711N|CR2_ENST00000458541.2_Missense_Mutation_p.I684N|CR2_ENST00000367059.3_Missense_Mutation_p.I711N	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	840	Sushi 12.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCAAAAAGATTCCACTTTGT	0.388													False	0	False	1:207647654	0	A	207647654	T	A	207647654	3	1	74	1	0	0	0	0	1	0	0	0	3865	1493	52	5	2359	5	CR2	1	207647654	Missense_Mutation	SNP	T	TCGA-HZ-A49I-01A-12D-A26I-08	27584525	207647654	41602967	10	6137											
CR1L	1379	broad.mit.edu	37	chr1	207867914	207867914	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcccctcagtgcattatacCtaacaaatgcacgcctccaa	5	15	1	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:207867914C>G	ENST00000508064.2	+	5	740	c.680C>G	c.(679-681)cCt>cGt	p.P227R	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	227						cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGCATTATACCTAACAAATGC	0.448													False	0	False	1:207867914	0	G	207867914	C	G	207867914	3	3	74	1	0	0	0	0	1	0	0	0	3864	681	24	5	698	5	CR1L	1	207867914	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	220260	207867914	41382707	11	6138											
OR2M7	391196	broad.mit.edu	37	chr1	248487356	248487356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaagtgggctatttccCgagacccacagtaggagaag	13	9	0	3	rs145948434		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:248487356C>T	ENST00000317965.2	-	1	543	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172L(1)|p.R172Q(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTATTTCCCGAGACCCACA	0.433													False	0	True	1:248487356	0	T	248487356	C	T	248487356	3	4	74	1	0	0	0	0	1	0	0	0	11082	652	23	1	426	1	OR2M7	1	248487356	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	40619442	248487356	763265	12	6139											
LRP1B	53353	broad.mit.edu	37	chr2	141200116	141200116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcacagtctggatcctcGtcacaaacccacagcttgga	8	14	3	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:141200116G>A	ENST00000389484.3	-	66	11342	c.10371C>T	c.(10369-10371)gaC>gaT	p.D3457D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3457	LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGATCCTCGTCACAAACCC	0.463										TSP Lung(27;0.18)			False	0	False	2:141200116	0	A	141200116	G	A	141200116	2	1	74	1	0	0	0	0	0	0	0	1	9017	1136	40	1		1	LRP1B	2	141200116	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08		141200116	101999257	13	6140											
TTN	7273	broad.mit.edu	37	chr2	179583694	179583694	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggggtttgttcaaaagatGgtggttctagatattgcaag	13	4	2	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:179583694G>T	ENST00000589042.1	-	84	24457	c.24233C>A	c.(24232-24234)cCa>cAa	p.P8078Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P7761Q|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6834Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7761	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAAAGATGGTGGTTCTAG	0.443													False	0	False	2:179583694	0	T	179583694	G	T	179583694	3	4	74	1	0	0	0	0	1	0	0	0	16819	1348	47	3	80412	3	TTN	2	179583694	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	38383578	179583694	63615679	14	6141											
FANCD2	2177	broad.mit.edu	37	chr3	10106107	10106107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggactcctgtgttgttcCggaagggtaggtattgttta	14	5	0	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:10106107C>T	ENST00000287647.3	+	22	2108	c.2015C>T	c.(2014-2016)cCg>cTg	p.P672L	FANCD2_ENST00000383807.1_Missense_Mutation_p.P672L|FANCD2_ENST00000383806.1_Missense_Mutation_p.P672L|FANCD2_ENST00000419585.1_Missense_Mutation_p.P672L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	672					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGTGTTGTTCCGGAAGGGTAG	0.458			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	3:10106107	0	T	10106107	C	T	10106107	3	4	74	1	0	0	0	0	1	0	0	0	5705	652	23	1	2097	1	FANCD2	3	10106107	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		10106107	187916323	15	6142											
NEK10	152110	broad.mit.edu	37	chr3	27346443	27346443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctctgcacaaagtaggcGcagcaactccgctgttagtc	12	12	1	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:27346443G>A	ENST00000429845.2	-	13	1185	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	NEK10_ENST00000341435.5_Missense_Mutation_p.R275C			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	275							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAAAGTAGGCGCAGCAACTCC	0.502													False	0	False	3:27346443	0	A	27346443	G	A	27346443	3	1	74	1	0	0	0	0	1	0	0	0	10390	1087	38	1	1367	1	NEK10	3	27346443	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	17240336	27346443	170675987	16	6143											
SLC6A20	54716	broad.mit.edu	37	chr3	45817325	45817325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggaggaggcacagcgcCggctcccactgcacaccccc	12	19	0	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:45817325C>T	ENST00000358525.4	-	4	625	c.510G>A	c.(508-510)ccG>ccA	p.P170P	SLC6A20_ENST00000353278.4_Silent_p.P170P|SLC6A20_ENST00000456124.2_Silent_p.P170P	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	170					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGCACAGCGCCGGCTCCCACT	0.622													False	0	False	3:45817325	0	T	45817325	C	T	45817325	2	4	74	1	0	0	0	0	0	0	0	1	14764	639	23	1		1	SLC6A20	3	45817325	Silent	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	18470882	45817325	152205105	17	6144											
ITIH1	3697	broad.mit.edu	37	chr3	52821993	52821993	+	Frame_Shift_Del	DEL	T	T	-													cttctaaatgccactcccccTcccatcagcgttcgtgctgt					rs71299618		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:52821993delT	ENST00000405128.3	+	1	153	c.14delT	c.(13-15)ctcfs	p.L5fs	ITIH1_ENST00000540715.1_Intron|ITIH1_ENST00000273283.2_Intron|ITIH1_ENST00000542827.1_Intron|ITIH1_ENST00000537050.1_Intron			P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	0					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCACTCCCCCTCCCATCAGCG	0.622													False	1	True	3:52821993	0	-	52821993	T	-	52821993	7	5	74	1	0	1	0	1	0	0	0	0	7953	1566	54	0		0	ITIH1	3	52821993	Frame_Shift_Del	DEL	T	TCGA-HZ-A49I-01A-12D-A26I-08	7004668	52821993	145200437	18	6145											
NUDT9	53343	broad.mit.edu	37	chr4	88370318	88370318	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaagggatagcagtggaaaTaaaatcatgcatcctgtttc	9	6	1	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr4:88370318T>A	ENST00000473942.1	+	5	527	c.405T>A	c.(403-405)aaT>aaA	p.N135K	NUDT9_ENST00000515371.1_3'UTR|NUDT9_ENST00000302174.4_Missense_Mutation_p.N185K	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	185						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		GCAGTGGAAATAAAATCATGC	0.338													False	0	True	4:88370318	0	A	88370318	T	A	88370318	3	1	74	1	0	0	0	0	1	0	0	0	10814	1403	49	5	573	5	NUDT9	4	88370318	Missense_Mutation	SNP	T	TCGA-HZ-A49I-01A-12D-A26I-08		88370318	102783958	19	6146											
ENPP6	133121	broad.mit.edu	37	chr4	185033945	185033945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcatgtgttccactgtGctcagtttgttatatatctg	8	8	3	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr4:185033945G>A	ENST00000296741.2	-	6	1014	c.873C>T	c.(871-873)agC>agT	p.S291S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	291					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTTCCACTGTGCTCAGTTTGT	0.398													False	0	False	4:185033945	0	A	185033945	G	A	185033945	2	1	74	1	0	0	0	0	0	0	0	1	5166	1310	46	2		2	ENPP6	4	185033945	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	96663627	185033945	6120331	20	6147											
MTMR12	54545	broad.mit.edu	37	chr5	32235181	32235181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgaattcaaatgccggggGatgctggtgcaccagctgcc	14	10	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:32235181G>A	ENST00000382142.3	-	14	1569	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000280285.5_Missense_Mutation_p.P467S	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	467	Interaction with MTM1.|Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AATGCCGGGGGATGCTGGTGC	0.453													False	0	True	5:32235181	0	A	32235181	G	A	32235181	3	1	74	1	0	0	0	0	1	0	0	0	10008	1174	41	2	856	2	MTMR12	5	32235181	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08		32235181	148680079	21	6148											
ITGA1	3672	broad.mit.edu	37	chr5	52235424	52235424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattttcatttctagaatgCaaactgcagaccccatatct	4	10	3	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:52235424C>T	ENST00000282588.6	+	25	3541	c.3083C>T	c.(3082-3084)gCa>gTa	p.A1028V	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1028					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCTAGAATGCAAACTGCAGA	0.383													False	0	True	5:52235424	0	T	52235424	C	T	52235424	3	4	74	1	0	0	0	0	1	0	0	0	7922	710	25	2	3181	2	ITGA1	5	52235424	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	20000243	52235424	128679836	22	6149											
PRL	5617	broad.mit.edu	37	chr6	22292852	22292852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccttggtaatgaaccccCggccatgggtataccgttta	11	11	0	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:22292852C>T	ENST00000306482.1	-	3	745	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	76					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					AATGAACCCCCGGCCATGGGT	0.458													False	0	True	6:22292852	0	T	22292852	C	T	22292852	3	4	74	1	0	0	0	0	1	0	0	0	12604	652	23	1	468	1	PRL	6	22292852	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		22292852	148822215	23	6150											
BACH2	60468	broad.mit.edu	37	chr6	90661558	90661558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtaggcaaactgtaacagCggcccaaagcccctggctgt	12	12	0	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:90661558C>T	ENST00000257749.4	-	7	974	c.267G>A	c.(265-267)ccG>ccA	p.P89P	BACH2_ENST00000343122.3_Silent_p.P89P|BACH2_ENST00000537989.1_Silent_p.P89P|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	89	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACTGTAACAGCGGCCCAAAGC	0.527													False	0	False	6:90661558	0	T	90661558	C	T	90661558	2	4	74	1	0	0	0	0	0	0	0	1	1288	755	27	1		1	BACH2	6	90661558	Silent	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	68368706	90661558	80453509	24	6151											
IYD	389434	broad.mit.edu	37	chr6	150710623	150710625	+	In_Frame_Del	DEL	TCA	TCA	-													taagagacggtcagtcaggtTcataagtaatgagcaagtcc							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	TCA	TCA	-	-	TCA	TCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:150710623_150710625delTCA	ENST00000344419.3	+	2	454_456	c.314_316delTCA	c.(313-318)ttcata>tta	p.105_106FI>L	IYD_ENST00000500320.3_In_Frame_Del_p.105_106FI>L|IYD_ENST00000392256.2_In_Frame_Del_p.105_106FI>L|IYD_ENST00000425615.3_In_Frame_Del_p.50_51FI>L|IYD_ENST00000229447.5_In_Frame_Del_p.105_106FI>L|IYD_ENST00000392255.3_In_Frame_Del_p.105_106FI>L	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	105			FI -> L (in TDH4; strongly reduces activity; does not respond to the increase of flavin mononucleotide concentration).		cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TCAGTCAGGTTCATAAGTAATGA	0.409													False	1	False	6:150710623	0	-	150710625	TCA	-	150710623	7	5	74	1	0	1	0	1	0	0	0	0	7982	1783	62	0	320	0	IYD	6	150710623	In_Frame_Del	DEL	TCA	TCGA-HZ-A49I-01A-12D-A26I-08	60049065	150710623	20404444	25	6152											
SKAP2	8935	broad.mit.edu	37	chr7	26883668	26883668	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcagagggggcttcatcGtctttatcatatcgttctga	9	10	5	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr7:26883668G>A	ENST00000539623.1	-	0	390				SKAP2_ENST00000345317.2_Silent_p.D96D			O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2						B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GGGCTTCATCGTCTTTATCAT	0.408													False	0	False	7:26883668	0	A	26883668	G	A	26883668	1	1	74	1	0	0	0	0	0	0	0	0	14437	1136	40	1		1	SKAP2	7	26883668	Translation_Start_Site	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08		26883668	132254995	26	6153											
PLEKHA8	84725	broad.mit.edu	37	chr7	30094411	30094411	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtctggatcagactcaagtTgctctccggaatgcctctgg	11	11	5	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr7:30094411T>G	ENST00000449726.1	+	8	1233	c.883T>G	c.(883-885)Tgc>Ggc	p.C295G	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.C295G|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.C295G|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.C295G	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	295					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGACTCAAGTTGCTCTCCGGA	0.403													False	0	False	7:30094411	0	G	30094411	T	G	30094411	3	3	74	1	0	0	0	0	1	0	0	0	12131	1812	63	4	913	4	PLEKHA8	7	30094411	Missense_Mutation	SNP	T	TCGA-HZ-A49I-01A-12D-A26I-08	3210743	30094411	129044252	27	6154											
RP1L1	94137	broad.mit.edu	37	chr8	10470187	10470187	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaccccgtcctccggggtcCtggggcagcaggaggactct	14	16	1	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:10470187C>G	ENST00000382483.3	-	4	1644	c.1421G>C	c.(1420-1422)aGg>aCg	p.R474T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	474					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCGGGGTCCTGGGGCAGCA	0.701													False	0	False	8:10470187	0	G	10470187	C	G	10470187	3	3	74	1	0	0	0	0	1	0	0	0	13612	681	24	5	5785	5	RP1L1	8	10470187	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		10470187	135893835	28	6155											
LZTS1	11178	broad.mit.edu	37	chr8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-													agctcattctcacagacctcCagctccaggcccttggtgcg					rs148039718	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENST00000381569.1	-	4	1651_1698	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel	p.RTQDLEGALRTKGLEL432del	LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	432					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACAGACCTCCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCTCAGCTCCAGG	0.657													False	1	True	8:20107683	0	-	20107730	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	20107683	7	5	74	1	0	1	0	1	0	0	0	0	9201	581	21	0	453	0	LZTS1	8	20107683	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	TCGA-HZ-A49I-01A-12D-A26I-08	9637496	20107683	126256339	29	6156											
OTUD6B	51633	broad.mit.edu	37	chr8	92097044	92097046	+	In_Frame_Del	DEL	ATT	ATT	-													tgcatatggcttaggagaacAttataattcggttacacggt							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	ATT	ATT	-	-	ATT	ATT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:92097044_92097046delATT	ENST00000285420.4	+	7	1019_1021	c.920_922delATT	c.(919-924)cattat>cat	p.Y308del	OTUD6B_ENST00000404789.3_In_Frame_Del_p.Y177del	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	278										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			TTAGGAGAACATTATAATTCGGT	0.276													False	1	False	8:92097044	0	-	92097046	ATT	-	92097044	7	5	74	1	0	1	0	1	0	0	0	0	11385	217	8	0	946	0	OTUD6B	8	92097044	In_Frame_Del	DEL	ATT	TCGA-HZ-A49I-01A-12D-A26I-08	71989361	92097044	54266978	30	6157											
VPS13B	157680	broad.mit.edu	37	chr8	100861089	100861089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catcactgtggccccagaagGaaaagcaggacctattttaa	9	10	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:100861089G>T	ENST00000358544.2	+	55	10214	c.10103G>T	c.(10102-10104)gGa>gTa	p.G3368V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G3343V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3368					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCCCCAGAAGGAAAAGCAGGA	0.398													False	0	True	8:100861089	0	T	100861089	G	T	100861089	3	4	74	1	0	0	0	0	1	0	0	0	17274	1174	41	3	10511	3	VPS13B	8	100861089	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	8764045	100861089	45502933	31	6158											
PLEC	5339	broad.mit.edu	37	chr8	144992083	144992083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaaccggtggccgcctgcGcctccaggagctcaaaggct	13	15	1	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:144992083G>A	ENST00000322810.4	-	32	12486	c.12317C>T	c.(12316-12318)gCg>gTg	p.A4106V	PLEC_ENST00000356346.3_Missense_Mutation_p.A3955V|PLEC_ENST00000345136.3_Missense_Mutation_p.A3969V|PLEC_ENST00000357649.2_Missense_Mutation_p.A3973V|PLEC_ENST00000354958.2_Missense_Mutation_p.A3947V|PLEC_ENST00000354589.3_Missense_Mutation_p.A3969V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3992V|PLEC_ENST00000398774.2_Missense_Mutation_p.A3937V|PLEC_ENST00000436759.2_Missense_Mutation_p.A3996V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4106	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCCGCCTGCGCCTCCAGGAG	0.632													False	0	False	8:144992083	0	A	144992083	G	A	144992083	3	1	74	1	0	0	0	0	1	0	0	0	12121	1087	38	1	1741	1	PLEC	8	144992083	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	44130994	144992083	1371939	32	6159											
NR6A1	2649	broad.mit.edu	37	chr9	127316820	127316820	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacaaatgagacaggttcGttgttcagcccgatcatctg	9	12	3	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr9:127316820G>A	ENST00000487099.2	-	3	329	c.172C>T	c.(172-174)Cga>Tga	p.R58*	NR6A1_ENST00000416460.2_Nonsense_Mutation_p.R54*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.R54*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.R58*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	58					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						AGACAGGTTCGTTGTTCAGCC	0.463													False	0	False	9:127316820	0	A	127316820	G	A	127316820	4	1	74	1	0	0	0	0	0	1	0	0	10705	1153	40	1	1302	1	NR6A1	9	127316820	Nonsense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08		127316820	13896611	33	6160											
CUBN	8029	broad.mit.edu	37	chr10	17026279	17026279	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatcggggcctccatagatCtaacatgggatgtaggaaaa	11	7	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:17026279C>A	ENST00000377833.4	-	30	4416		c.e30-1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCATAGATCTAACATGGGA	0.473													False	0	False	10:17026279	0	A	17026279	C	A	17026279	5	1	74	1	0	0	0	0	0	0	1	0	4076	927	32	3	6673	3	CUBN	10	17026279	Splice_Site	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		17026279	118508468	34	6161											
ARL5B	221079	broad.mit.edu	37	chr10	18961589	18961595	+	Frame_Shift_Del	DEL	ACTAGCT	ACTAGCT	-													gatagcattgacagggaacgActagctattacaaaagaaga							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	ACTAGCT	ACTAGCT	-	-	ACTAGCT	ACTAGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:18961589_18961595delACTAGCT	ENST00000377275.3	+	4	527_533	c.294_300delACTAGCT	c.(292-300)cgactagctfs	p.RLA98fs		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	98					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						ACAGGGAACGACTAGCTATTACAAAAG	0.309													False	1	False	10:18961589	0	-	18961595	ACTAGCT	-	18961589	7	5	74	1	0	1	0	1	0	0	0	0	944	262	10	0	308	0	ARL5B	10	18961589	Frame_Shift_Del	DEL	ACTAGCT	TCGA-HZ-A49I-01A-12D-A26I-08	1935310	18961589	116573158	35	6162											
ARHGAP12	94134	broad.mit.edu	37	chr10	32143120	32143120	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgctgtagtagttttcTtccgatgaaagaagctacaa	10	6	1	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:32143120T>C	ENST00000375250.5	-	5	1204	c.963A>G	c.(961-963)gaA>gaG	p.E321E	ARHGAP12_ENST00000344936.2_Silent_p.E321E|ARHGAP12_ENST00000396144.4_Silent_p.E321E|ARHGAP12_ENST00000311380.4_Intron|ARHGAP12_ENST00000375245.4_Intron	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	321					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGTAGTTTTCTTCCGATGAAA	0.348													False	0	False	10:32143120	0	C	32143120	T	C	32143120	2	2	74	1	0	0	0	0	0	0	0	1	867	1606	56	4		4	ARHGAP12	10	32143120	Silent	SNP	T	TCGA-HZ-A49I-01A-12D-A26I-08	13181531	32143120	103391627	36	6163											
P4HA1	5033	broad.mit.edu	37	chr10	74806700	74806700	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacccttggttttgctaggtCtttgacgatttcaatttctg	8	8	3	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:74806700C>G	ENST00000412021.2	-	9	1393	c.1060G>C	c.(1060-1062)Gac>Cac	p.D354H	P4HA1_ENST00000373008.2_Missense_Mutation_p.D354H|P4HA1_ENST00000440381.1_Missense_Mutation_p.D354H|P4HA1_ENST00000263556.3_Missense_Mutation_p.D354H|P4HA1_ENST00000394890.2_Missense_Mutation_p.D354H|P4HA1_ENST00000307116.2_Missense_Mutation_p.D354H	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	354						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTTGCTAGGTCTTTGACGATT	0.328													False	0	True	10:74806700	0	G	74806700	C	G	74806700	3	3	74	1	0	0	0	0	1	0	0	0	11424	913	32	5	651	5	P4HA1	10	74806700	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	42663580	74806700	60728047	37	6164											
GRID1	2894	broad.mit.edu	37	chr10	87628834	87628834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcggtggttgttcctcGtgcatttctgattgtccttt	11	8	1	2	rs143353694		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:87628834G>A	ENST00000327946.7	-	6	969	c.884C>T	c.(883-885)aCg>aTg	p.T295M		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	295						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GTTGTTCCTCGTGCATTTCTG	0.572										Multiple Myeloma(13;0.14)			False	0	False	10:87628834	0	A	87628834	G	A	87628834	3	1	74	1	0	0	0	0	1	0	0	0	6818	1145	40	1	2189	1	GRID1	10	87628834	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	12822134	87628834	47905913	38	6165											
TLL2	7093	broad.mit.edu	37	chr10	98145915	98145915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgtgggatactccttcGgccacccagggctggtgatg	14	10	0	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:98145915G>A	ENST00000357947.3	-	15	2135	c.1910C>T	c.(1909-1911)cCg>cTg	p.P637L		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	637	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ATACTCCTTCGGCCACCCAGG	0.532													False	0	False	10:98145915	0	A	98145915	G	A	98145915	3	1	74	1	0	0	0	0	1	0	0	0	16028	1116	39	1	1165	1	TLL2	10	98145915	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	10517081	98145915	37388832	39	6166											
PSD	5662	broad.mit.edu	37	chr10	104173704	104173704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagaggggcaagtggggCgggagctggtgggtcgggcc	22	7	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:104173704C>T	ENST00000020673.5	-	5	1901	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PSD_ENST00000406432.1_Missense_Mutation_p.A459T	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	459	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAAGTGGGGCGGGAGCTGGT	0.657													False	0	True	10:104173704	0	T	104173704	C	T	104173704	3	4	74	1	0	0	0	0	1	0	0	0	12722	768	27	1	1751	1	PSD	10	104173704	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	6027789	104173704	31361043	40	6167											
GLB1L2	89944	broad.mit.edu	37	chr11	134244879	134244879	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccacaggtcatcgtttttgAggagacgatggcgggccctg	14	10	1	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:134244879A>C	ENST00000535456.2	+	19	2026	c.1838A>C	c.(1837-1839)gAg>gCg	p.E613A	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.E613A|GLB1L2_ENST00000339772.7_Missense_Mutation_p.E613A	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	613					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		ATCGTTTTTGAGGAGACGATG	0.627													False	0	False	11:134244879	0	C	134244879	A	C	134244879	3	2	74	1	0	0	0	0	1	0	0	0	6474	304	11	4	1912	4	GLB1L2	11	134244879	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08		134244879	761637	41	6168											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	74	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		25398284	108453611	42	6169											
MDM2	4193	broad.mit.edu	37	chr12	69218184	69218184	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgtgagtgagaacaggtgtCaccttgaaggtgggagtgat	16	5	1	4			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:69218184C>G	ENST00000462284.1	+	6	702	c.400C>G	c.(400-402)Cac>Gac	p.H134D	MDM2_ENST00000540827.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000258148.7_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.H103D|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	128					cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GAACAGGTGTCACCTTGAAGG	0.423			A		"sarcoma, glioma, colorectal, other"								False	0	False	12:69218184	0	G	69218184	C	G	69218184	3	3	74	1	0	0	0	0	1	0	0	0	9480	826	29	5	422	5	MDM2	12	69218184	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	43819900	69218184	64633711	43	6170											
RSRC2	65117	broad.mit.edu	37	chr12	122999745	122999745	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttaaacttctgctaaatcttCtcggcttttcaattctcttc	3	11	5	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:122999745C>T	ENST00000331738.7	-	6	777	c.632G>A	c.(631-633)aGa>aAa	p.R211K	RSRC2_ENST00000354654.2_Missense_Mutation_p.R163K	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	211										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GCTAAATCTTCTCGGCTTTTC	0.378													False	0	False	12:122999745	0	T	122999745	C	T	122999745	3	4	74	1	0	0	0	0	1	0	0	0	13794	913	32	2	692	2	RSRC2	12	122999745	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	53781561	122999745	10852150	44	6171											
GPR183	1880	broad.mit.edu	37	chr13	99947840	99947840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagatttagtttcttcaAagtttggatactccatgcat	8	6	2	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr13:99947840A>G	ENST00000376414.4	-	2	643	c.560T>C	c.(559-561)tTt>tCt	p.F187S	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	187					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						AGTTTCTTCAAAGTTTGGATA	0.413													False	0	True	13:99947840	0	G	99947840	A	G	99947840	3	3	74	1	0	0	0	0	1	0	0	0	6724	14	1	4	529	4	GPR183	13	99947840	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08		99947840	15222038	45	6172											
WDHD1	11169	broad.mit.edu	37	chr14	55467351	55467352	+	Frame_Shift_Ins	INS	-	-	TGGAA													acaaattgcataacctttctINScatgtttcaccctaaaaatt							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr14:55467351_55467352insTGGAA	ENST00000360586.3	-	10	876_877	c.811_812insTTCCA	c.(811-813)gagfs	p.E271fs	WDHD1_ENST00000420358.2_Frame_Shift_Ins_p.E148fs|WDHD1_ENST00000421192.1_Frame_Shift_Ins_p.E148fs	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	271						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATAACCTTTCTCATGTTTCACC	0.327													False	0	False	14:55467351	0	TGGAA	55467352	-	TGGAA	55467351	7	5	74	1	0	1	1	0	0	0	0	0	17355	1551	54	0	2645	0	WDHD1	14	55467351	Frame_Shift_Ins	INS	-	TCGA-HZ-A49I-01A-12D-A26I-08		55467351	51882189	46	6173											
SERPINA6	866	broad.mit.edu	37	chr14	94780770	94780770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggacagcatagctaaggcCatggagatgctcacagggga	15	8	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr14:94780770C>T	ENST00000341584.3	-	2	362	c.216G>A	c.(214-216)atG>atA	p.M72I		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	72					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TAGCTAAGGCCATGGAGATGC	0.547													False	0	False	14:94780770	0	T	94780770	C	T	94780770	3	4	74	1	0	0	0	0	1	0	0	0	14174	594	21	2	1017	2	SERPINA6	14	94780770	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	39313419	94780770	12568770	47	6174											
NLRC3	197358	broad.mit.edu	37	chr16	3607671	3607671	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttactgatctggttctcCgccaagctgcccaaggaaag	10	11	2	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr16:3607671C>T	ENST00000301749.7	-	0	2427				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTGGTTCTCCGCCAAGCTGC	0.527													False	0	False	16:3607671	0	T	3607671	C	T	3607671	1	4	74	0	1	0	0	0	0	0	0	0	10536	639	23	1		1	NLRC3	16	3607671	RNA	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		3607671	86747082	48	6175											
TP53	7157	broad.mit.edu	37	chr17	7577544	7577544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgggcctccggttcAtgccgcccatgcaggaactg	14	12	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr17:7577544A>C	ENST00000420246.2	-	7	869	c.737T>G	c.(736-738)aTg>aGg	p.M246R	TP53_ENST00000269305.4_Missense_Mutation_p.M246R|TP53_ENST00000445888.2_Missense_Mutation_p.M246R|TP53_ENST00000455263.2_Missense_Mutation_p.M246R|TP53_ENST00000413465.2_Missense_Mutation_p.M246R|TP53_ENST00000359597.4_Missense_Mutation_p.M246R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M246R(10)|p.M246T(9)|p.0?(8)|p.M246K(7)|p.?(5)|p.M246_P250delMNRRP(2)|p.G244fs*17(1)|p.M153T(1)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTCCGGTTCATGCCGCCCAT	0.572		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)			False	0	False	17:7577544	0	C	7577544	A	C	7577544	3	2	74	1	0	0	0	0	1	0	0	0	16464	217	8	4	553	4	TP53	17	7577544	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08		7577544	73617666	49	6176											
CASKIN2	57513	broad.mit.edu	37	chr17	73497867	73497867	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcccctcttacctgctccGggcaccttgaggagggcagc	11	17	1	1			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr17:73497867G>T	ENST00000321617.3	-	18	3874	c.3288C>A	c.(3286-3288)ccC>ccA	p.P1096P	CASKIN2_ENST00000433559.2_Silent_p.P1014P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1096	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TACCTGCTCCGGGCACCTTGA	0.637													False	0	True	17:73497867	0	T	73497867	G	T	73497867	2	4	74	1	0	0	0	0	0	0	0	1	2687	1103	39	3		3	CASKIN2	17	73497867	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	65920323	73497867	7697343	50	6177											
TCF4	6925	broad.mit.edu	37	chr18	52924608	52924608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctccatttctagaccAaacagctgtgcctgctgata	7	13	1	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr18:52924608A>G	ENST00000354452.3	-	14	1695	c.1084T>C	c.(1084-1086)Tgg>Cgg	p.W362R	TCF4_ENST00000544241.2_Missense_Mutation_p.W291R|TCF4_ENST00000566286.1_Missense_Mutation_p.W359R|TCF4_ENST00000537578.1_Missense_Mutation_p.W338R|TCF4_ENST00000566279.1_Missense_Mutation_p.W302R|TCF4_ENST00000570287.2_Missense_Mutation_p.W202R|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000564403.2_Missense_Mutation_p.W368R|TCF4_ENST00000398339.1_Missense_Mutation_p.W464R|TCF4_ENST00000457482.3_Missense_Mutation_p.W202R|TCF4_ENST00000561992.1_Missense_Mutation_p.W232R|TCF4_ENST00000565018.2_Missense_Mutation_p.W362R|TCF4_ENST00000570177.2_Missense_Mutation_p.W232R|TCF4_ENST00000540999.1_Missense_Mutation_p.W338R|TCF4_ENST00000564228.1_Missense_Mutation_p.W291R|TCF4_ENST00000537856.3_Missense_Mutation_p.W232R|TCF4_ENST00000564999.1_Missense_Mutation_p.W362R|TCF4_ENST00000543082.1_Missense_Mutation_p.W320R|TCF4_ENST00000567880.1_Missense_Mutation_p.W302R|TCF4_ENST00000356073.4_Missense_Mutation_p.W362R|TCF4_ENST00000561831.3_Missense_Mutation_p.W202R|TCF4_ENST00000568673.1_Missense_Mutation_p.W338R|TCF4_ENST00000568740.1_Missense_Mutation_p.W337R	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	362					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTTCTAGACCAAACAGCTGTG	0.408													False	0	True	18:52924608	0	G	52924608	A	G	52924608	3	3	74	1	0	0	0	0	1	0	0	0	15777	130	5	4	955	4	TCF4	18	52924608	Missense_Mutation	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08		52924608	25152640	51	6178											
ZNF532	55205	broad.mit.edu	37	chr18	56585592	56585592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgacatcccagatatggtcGatcctaaagcagctattgag	9	9	0	3			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr18:56585592G>A	ENST00000336078.4	+	4	849	c.73G>A	c.(73-75)Gat>Aat	p.D25N	ZNF532_ENST00000589288.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591808.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591083.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591230.1_Missense_Mutation_p.D25N	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGATATGGTCGATCCTAAAGC	0.468													False	0	False	18:56585592	0	A	56585592	G	A	56585592	3	1	74	1	0	0	0	0	1	0	0	0	18055	1058	37	1	75	1	ZNF532	18	56585592	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	3660984	56585592	21491656	52	6179											
CLEC4G	339390	broad.mit.edu	37	chr19	7796974	7796974	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgccccacttgctgtaCctggtggtgtccatggcgat	12	14	0	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:7796974C>T	ENST00000598081.1	-	1	117		c.e1+1		CLEC4G_ENST00000328853.5_Silent_p.R5R			Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G							integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						ACTTGCTGTACCTGGTGGTGT	0.612													False	0	False	19:7796974	0	T	7796974	C	T	7796974	5	4	74	1	0	0	0	0	0	0	1	0	3540	506	18	2	902	2	CLEC4G	19	7796974	Splice_Site	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		7796974	51332009	53	6180											
FAM129C	199786	broad.mit.edu	37	chr19	17660273	17660273	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattgaaaaagacccttggtGccaatgatgtatcctgcact	8	9	0	3			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:17660273G>T	ENST00000335393.4	+	15	1918	c.1780G>T	c.(1780-1782)Gcc>Tcc	p.A594S	FAM129C_ENST00000599124.1_Missense_Mutation_p.A527S|FAM129C_ENST00000449408.2_Missense_Mutation_p.A320S|FAM129C_ENST00000352727.3_Missense_Mutation_p.A558S|FAM129C_ENST00000599164.1_Missense_Mutation_p.A563S|FAM129C_ENST00000595684.1_Missense_Mutation_p.A594S|FAM129C_ENST00000601861.1_Missense_Mutation_p.A563S|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000332386.5_Missense_Mutation_p.A594S	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	594										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GACCCTTGGTGCCAATGATGT	0.527													False	0	False	19:17660273	0	T	17660273	G	T	17660273	3	4	74	1	0	0	0	0	1	0	0	0	5474	1319	46	3	1838	3	FAM129C	19	17660273	Missense_Mutation	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	9863299	17660273	41468710	54	6181											
TMEM91	641649	broad.mit.edu	37	chr19	41888851	41888861	+	Frame_Shift_Del	DEL	GGGGACTGGGC	GGGGACTGGGC	-													gtctgtgtgtgggacttggaGgggactgggcataaaagaga							TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	GGGGACTGGGC	GGGGACTGGGC	-	-	GGGGACTGGGC	GGGGACTGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:41888851_41888861delGGGGACTGGGC	ENST00000539627.1	+	3	706_716	c.385_395delGGGGACTGGGC	c.(385-396)ggggactgggcafs	p.GDWA129fs	TMEM91_ENST00000447302.2_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000392002.2_Intron|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000356385.4_Intron|TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000542945.1_Frame_Shift_Del_p.GDWA129fs|BCKDHA_ENST00000595085.1_Intron					transmembrane protein 91											lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGACTTGGAGGGGACTGGGCATAAAAGAGA	0.531													False	1	False	19:41888851	0	-	41888861	GGGGACTGGGC	-	41888851	7	5	74	1	0	1	0	1	0	0	0	0	16302	1015	35	0		0	TMEM91	19	41888851	Frame_Shift_Del	DEL	GGGGACTGGGC	TCGA-HZ-A49I-01A-12D-A26I-08	24228578	41888851	17240132	55	6182											
NLRP2	55655	broad.mit.edu	37	chr19	55501388	55501388	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtcctatttctcccacAggttggtgtcttgttccgct	10	12	2	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:55501388A>G	ENST00000543010.1	+	9	2509		c.e9-1		NLRP2_ENST00000339757.7_Splice_Site|NLRP2_ENST00000427260.2_Splice_Site|NLRP2_ENST00000391721.4_Splice_Site|NLRP2_ENST00000448584.2_Splice_Site|NLRP2_ENST00000537859.1_Splice_Site|NLRP2_ENST00000538819.1_Splice_Site|NLRP2_ENST00000263437.6_Splice_Site	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2						apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTTCTCCCACAGGTTGGTGTC	0.517													False	0	False	19:55501388	0	G	55501388	A	G	55501388	5	3	74	1	0	0	0	0	0	0	1	0	10545	202	7	4	2395	4	NLRP2	19	55501388	Splice_Site	SNP	A	TCGA-HZ-A49I-01A-12D-A26I-08	13612537	55501388	3627595	56	6183											
KIAA1755	85449	broad.mit.edu	37	chr20	36855620	36855620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccaggaagagaatagccCggatagaggctgggacctga	14	11	0	3			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr20:36855620C>T	ENST00000279024.4	-	7	2259	c.1988G>A	c.(1987-1989)cGg>cAg	p.R663Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	663										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGAATAGCCCGGATAGAGGC	0.572													False	0	True	20:36855620	0	T	36855620	C	T	36855620	3	4	74	1	0	0	0	0	1	0	0	0	8307	652	23	1	1646	1	KIAA1755	20	36855620	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		36855620	26169900	57	6184											
KIAA1755	85449	broad.mit.edu	37	chr20	36859706	36859706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacaccagaagcaggggcCgcccggccctgtcccggcca	13	17	0	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr20:36859706C>T	ENST00000279024.4	-	5	2040	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	590										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AAGCAGGGGCCGCCCGGCCCT	0.637													False	0	False	20:36859706	0	T	36859706	C	T	36859706	3	4	74	1	0	0	0	0	1	0	0	0	8307	652	23	1	1873	1	KIAA1755	20	36859706	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08	4086	36859706	26165814	58	6185											
SON	6651	broad.mit.edu	37	chr21	34925124	34925124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagctgaaaatacttggcCtacagaggtgccatcatcac	8	11	2	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr21:34925124C>T	ENST00000356577.4	+	3	4062	c.3587C>T	c.(3586-3588)cCt>cTt	p.P1196L	SON_ENST00000381679.4_Missense_Mutation_p.P1196L|SON_ENST00000300278.4_Missense_Mutation_p.P1196L|SON_ENST00000290239.6_Missense_Mutation_p.P1196L|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1196					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AATACTTGGCCTACAGAGGTG	0.527													False	0	False	21:34925124	0	T	34925124	C	T	34925124	3	4	74	1	0	0	0	0	1	0	0	0	15006	681	24	2	3597	2	SON	21	34925124	Missense_Mutation	SNP	C	TCGA-HZ-A49I-01A-12D-A26I-08		34925124	13204771	59	6186											
BRWD1	54014	broad.mit.edu	37	chr21	40650700	40650700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaacaaagcatttgaacGcctggcctaggcttttcagt	10	9	1	2			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr21:40650700G>A	ENST00000342449.3	-	10	1050	c.972C>T	c.(970-972)ggC>ggT	p.G324G	BRWD1_ENST00000380800.3_Silent_p.G324G|BRWD1_ENST00000333229.2_Silent_p.G324G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCATTTGAACGCCTGGCCTAG	0.333													False	0	False	21:40650700	0	A	40650700	G	A	40650700	2	1	74	1	0	0	0	0	0	0	0	1	1532	1074	38	1		1	BRWD1	21	40650700	Silent	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08	5725576	40650700	7479195	60	6187											
PARVB	29780	broad.mit.edu	37	chr22	44559738	44559738	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccccccttccttggcagGtccacaatgtgtccttcgcc	7	19	0	0			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr22:44559738G>T	ENST00000338758.7	+	12	1009	c.946G>T	c.(946-948)Gtc>Ttc	p.V316F	PARVB_ENST00000406477.3_Splice_Site_p.V349F|PARVB_ENST00000404989.1_Splice_Site_p.V279F	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta		CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TCCTTGGCAGGTCCACAATGT	0.622													False	0	False	22:44559738	0	T	44559738	G	T	44559738	5	4	74	1	0	0	0	0	0	0	1	0	11537	1275	44	3	1211	3	PARVB	22	44559738	Splice_Site	SNP	G	TCGA-HZ-A49I-01A-12D-A26I-08		44559738	6744828	61	6188											
SHROOM4	57477	broad.mit.edu	37	chrX	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-													aatactggggtggcagctccTcttcctcctcctctgcctcc					rs3747282	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chrX:50350672_50350674delTCT	ENST00000460112.3	-	5	3574_3576	c.3120_3122delAGA	c.(3118-3123)gaagag>gag	p.1040_1041EE>E	SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													False	1	False	X:50350672	0	-	50350674	TCT	-	50350672	7	5	74	1	0	1	0	1	0	0	0	0	14377	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-HZ-A49I-01A-12D-A26I-08		50350672	104919888	62	6189											
RPL22	6146	broad.mit.edu	37	chr1	6257817	6257818	+	Translation_Start_Site	INS	-	-	ACAGGAGCCATGGCGGCAGCGGAGTTAGAAAGGGCGGAATAATTCT													ccttcaccacaagctttttcINStaagaaaatacacaaatgat							TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:6257817_6257818insACAGGAGCCATGGCGGCAGCGGAGTTAGAAAGGGCGGAATAATTCT	ENST00000484532.1	-	0	0				RPL22_ENST00000234875.4_Splice_Site|RPL22_ENST00000497965.1_Splice_Site			P35268	RL22_HUMAN	ribosomal protein L22						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAAGCTTTTTCTAAGAAAATAC	0.386			T	RUNX1	"AML, CML"								False	0	False	1:6257817	0	ACAGGAGCCATGGCGGCAGCGGAGTTAGAAAGGGCGGAATAATTCT	6257818	-	ACAGGAGCCATGGCGGCAGCGGAGTTAGAAAGGGCGGAATAATTCT	6257817	6	5	75	1	0	1	1	0	0	0	0	0	13647	927	32	0		0	RPL22	1	6257817	Translation_Start_Site	INS	-	TCGA-HZ-A4BH-01A-11D-A26I-08		6257817	242992804	1	6190											
PRAMEF4	400735	broad.mit.edu	37	chr1	12943068	12943068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttcagggcctcacagcGtctcctgctgaaggcctcca	10	16	3	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:12943068G>A	ENST00000235349.5	-	2	218	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	50								p.R50C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCACAGCGTCTCCTGCTG	0.607													False	0	False	1:12943068	0	A	12943068	G	A	12943068	3	1	75	1	0	0	0	0	1	0	0	0	12513	1145	40	1	1300	1	PRAMEF4	1	12943068	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	6685251	12943068	236307553	2	6191											
GJB4	127534	broad.mit.edu	37	chr1	35227279	35227279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatcttcaaggccgccgtgGatgctggcttcctctatatc	9	13	4	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:35227279G>A	ENST00000339480.1	+	2	794	c.424G>A	c.(424-426)Gat>Aat	p.D142N	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	142					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCGCCGTGGATGCTGGCTT	0.612													False	0	False	1:35227279	0	A	35227279	G	A	35227279	3	1	75	1	0	0	0	0	1	0	0	0	6455	1174	41	2	426	2	GJB4	1	35227279	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	22284211	35227279	214023342	3	6192											
C1orf173	127254	broad.mit.edu	37	chr1	75036840	75036840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaaacatctgcagtctcGctttctccttgcaccatatg	9	12	3	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:75036840G>A	ENST00000326665.5	-	14	4772	c.4554C>T	c.(4552-4554)agC>agT	p.S1518S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1518										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCAGTCTCGCTTTCTCCTT	0.493													False	0	False	1:75036840	0	A	75036840	G	A	75036840	2	1	75	1	0	0	0	0	0	0	0	1	2029	1078	38	1		1	C1orf173	1	75036840	Silent	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	39809561	75036840	174213781	4	6193											
NTNG1	22854	broad.mit.edu	37	chr1	107979392	107979392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagtgtgatgagtgtctgcCgggaaattcctggcactacg	13	8	1	2			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:107979392C>T	ENST00000370068.1	+	7	2207	c.1361C>T	c.(1360-1362)cCg>cTg	p.P454L	NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.P454L|NTNG1_ENST00000370061.3_Missense_Mutation_p.P420L|NTNG1_ENST00000542803.1_Missense_Mutation_p.P454L|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370070.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	454	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGTGTCTGCCGGGAAATTCC	0.517													False	0	True	1:107979392	0	T	107979392	C	T	107979392	3	4	75	1	0	0	0	0	1	0	0	0	10772	652	23	1	1517	1	NTNG1	1	107979392	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	32942552	107979392	141271229	5	6194											
WDR47	22911	broad.mit.edu	37	chr1	109560150	109560150	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaatcttacctttttttgtCaaatttttccatacattcta	1	8	3	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:109560150C>A	ENST00000369965.4	-	3	492	c.232G>T	c.(232-234)Gac>Tac	p.D78Y	WDR47_ENST00000400794.3_Missense_Mutation_p.D78Y|WDR47_ENST00000369962.3_Missense_Mutation_p.D78Y|WDR47_ENST00000361054.3_Intron|WDR47_ENST00000357672.3_Intron	NM_001142550.1|NM_001142551.1|NM_014969.5	NP_001136022.1|NP_001136023.1|NP_055784.3	O94967	WDR47_HUMAN	WD repeat domain 47	78	CTLH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTTTTTTTGTCAAATTTTTCC	0.289													False	0	True	1:109560150	0	A	109560150	C	A	109560150	3	1	75	1	0	0	0	0	1	0	0	0	17384	826	29	3	2603	3	WDR47	1	109560150	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	1580758	109560150	139690471	6	6195											
CASQ2	845	broad.mit.edu	37	chr1	116243875	116243877	+	In_Frame_Del	DEL	TCG	TCG	-													agttgggctattcatcatcaTcgtcatcactgtcatcatta					rs7413162	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:116243875_116243877delTCG	ENST00000261448.5	-	11	1424_1426	c.1185_1187delCGA	c.(1183-1188)gacgat>gat	p.395_396DD>D	CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	395	Asp/Glu-rich (acidic).				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		Ttcatcatcatcgtcatcactgt	0.404													False	1	True	1:116243875	0	-	116243877	TCG	-	116243875	7	5	75	1	0	1	0	1	0	0	0	0	2701	1435	50	0	16	0	CASQ2	1	116243875	In_Frame_Del	DEL	TCG	TCGA-HZ-A4BH-01A-11D-A26I-08	6683725	116243875	133006746	7	6196											
KDM5B	10765	broad.mit.edu	37	chr1	202714993	202714993	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgtatcacatacttttcttCttgttgatctttgcctccaa	4	11	4	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:202714993C>T	ENST00000367265.3	-	16	3480	c.2316G>A	c.(2314-2316)aaG>aaA	p.K772K	KDM5B_ENST00000367264.2_Silent_p.K808K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	772					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TACTTTTCTTCTTGTTGATCT	0.383													False	0	False	1:202714993	0	T	202714993	C	T	202714993	2	4	75	1	0	0	0	0	0	0	0	1	8184	912	32	2		2	KDM5B	1	202714993	Silent	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	86471118	202714993	46535628	8	6197											
DISC1	27185	broad.mit.edu	37	chr1	231830151	231830151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttagctttattcggctctCgcttggctctgccggggaac	11	12	2	0	rs139420445	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:231830151C>T	ENST00000439617.2	+	2	700	c.647C>T	c.(646-648)tCg>tTg	p.S216L	DISC1_ENST00000317586.4_Missense_Mutation_p.S216L|DISC1_ENST00000366633.3_Missense_Mutation_p.S216L|DISC1_ENST00000366636.4_Missense_Mutation_p.S216L|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.S216L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.S216L|DISC1_ENST00000539444.1_Missense_Mutation_p.S216L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000602281.1_Missense_Mutation_p.S216L	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	216	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATTCGGCTCTCGCTTGGCTCT	0.607													False	0	False	1:231830151	0	T	231830151	C	T	231830151	3	4	75	1	0	0	0	0	1	0	0	0	4568	893	31	1	653	1	DISC1	1	231830151	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	29115158	231830151	17420470	9	6198											
CHML	1122	broad.mit.edu	37	chr1	241799053	241799053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccacatcaaactctgtggGaagattgtccgccattttag	8	10	2	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:241799053G>A	ENST00000366553.1	-	1	179	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	6					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AACTCTGTGGGAAGATTGTCC	0.433													False	0	True	1:241799053	0	A	241799053	G	A	241799053	3	1	75	1	0	0	0	0	1	0	0	0	3374	1174	41	2	1958	2	CHML	1	241799053	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	9968902	241799053	7451568	10	6199											
EXO1	9156	broad.mit.edu	37	chr1	242030320	242030320	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtactaaagggttaaatctCccaaggaaatcatccattgt	7	8	2	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:242030320C>T	ENST00000366548.3	+	11	1823	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	EXO1_ENST00000518483.1_Silent_p.L410L|EXO1_ENST00000348581.5_Silent_p.L410L	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	410	Interaction with MLH1.		L -> R (abrogates exonuclease activity).		meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGTTAAATCTCCCAAGGAAAT	0.408								Editing and processing nucleases					False	0	True	1:242030320	0	T	242030320	C	T	242030320	2	4	75	1	0	0	0	0	0	0	0	1	5332	842	30	2		2	EXO1	1	242030320	Silent	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	231267	242030320	7220301	11	6200											
TPO	7173	broad.mit.edu	37	chr2	1520713	1520713	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgctggctgctctgctgatCggaggcttcgcaggtctcac	13	13	2	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:1520713C>T	ENST00000345913.4	+	15	2668	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	TPO_ENST00000349624.3_Silent_p.I686I|TPO_ENST00000329066.4_Silent_p.I859I|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Silent_p.I815I|TPO_ENST00000382198.1_Silent_p.I686I|TPO_ENST00000337415.3_Silent_p.I859I|TPO_ENST00000382201.3_Silent_p.I802I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	859					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCTGCTGATCGGAGGCTTCG	0.547													False	0	False	2:1520713	0	T	1520713	C	T	1520713	2	4	75	1	0	0	0	0	0	0	0	1	16493	874	31	1		1	TPO	2	1520713	Silent	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08		1520713	241678660	12	6201											
DYSF	8291	broad.mit.edu	37	chr2	71741003	71741003	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggatcaaaagaaagcgaagTgcgcctacatctagaaagct	11	8	2	2			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:71741003T>A	ENST00000258104.3	+	6	892	c.615T>A	c.(613-615)agT>agA	p.S205R	DYSF_ENST00000413539.2_Missense_Mutation_p.S236R|DYSF_ENST00000409366.1_Missense_Mutation_p.S206R|DYSF_ENST00000409651.1_Missense_Mutation_p.S237R|DYSF_ENST00000394120.2_Missense_Mutation_p.S206R|DYSF_ENST00000429174.2_Missense_Mutation_p.S205R|DYSF_ENST00000410041.1_Missense_Mutation_p.S237R|DYSF_ENST00000409762.1_Missense_Mutation_p.S236R|DYSF_ENST00000409744.1_Missense_Mutation_p.S206R|DYSF_ENST00000410020.3_Missense_Mutation_p.S237R|DYSF_ENST00000409582.3_Missense_Mutation_p.S236R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	205						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAAGCGAAGTGCGCCTACAT	0.582													False	0	False	2:71741003	0	A	71741003	T	A	71741003	3	1	75	1	0	0	0	0	1	0	0	0	4889	1693	59	5	829	5	DYSF	2	71741003	Missense_Mutation	SNP	T	TCGA-HZ-A4BH-01A-11D-A26I-08	70220290	71741003	171458370	13	6202											
IL1RN	3557	broad.mit.edu	37	chr2	113885304	113885304	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagaaaatccagcaagAtgcaagccttcaggtaaggc	12	9	1	2			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:113885304A>T	ENST00000259206.5	+	3	234	c.112A>T	c.(112-114)Atg>Ttg	p.M38L	IL1RN_ENST00000409930.3_Missense_Mutation_p.M35L|IL1RN_ENST00000361779.3_Start_Codon_SNP_p.M1L|IL1RN_ENST00000354115.2_Missense_Mutation_p.M17L|IL1RN_ENST00000409052.1_Start_Codon_SNP_p.M1L	NM_173841.2	NP_776213.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	35					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	ATCCAGCAAGATGCAAGCCTT	0.562									Lichen Sclerosis et Atrophicus, Familial Clustering of				False	0	False	2:113885304	0	T	113885304	A	T	113885304	3	4	75	1	0	0	0	0	1	0	0	0	7715	333	12	5	186	5	IL1RN	2	113885304	Missense_Mutation	SNP	A	TCGA-HZ-A4BH-01A-11D-A26I-08	42144301	113885304	129314069	14	6203											
HSPE1	3336	broad.mit.edu	37	chr2	198367853	198367854	+	Splice_Site	INS	-	-	ATTATT													agtagttctagatgacaaggINStgtgtaaacttaataattct							TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:198367853_198367854insATTATT	ENST00000409729.1	+	2	390		c.e2+1		HSPE1_ENST00000409468.1_In_Frame_Ins_p.87_87V>DYL|MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000465573.1_Splice_Site|HSPE1_ENST00000233893.5_Splice_Site					heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			AGATGACAAGGTGTGTAAACTT	0.342													False	0	True	2:198367853	0	ATTATT	198367854	-	ATTATT	198367853	8	5	75	1	0	1	1	0	0	0	1	0	7479	1275	44	0	269	0	HSPE1	2	198367853	Splice_Site	INS	-	TCGA-HZ-A4BH-01A-11D-A26I-08	84482549	198367853	44831520	15	6204											
NBEAL1	65065	broad.mit.edu	37	chr2	204009874	204009874	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaggaggggaaagcaagctCaaatttcaggtaaaaagtaa	12	4	2	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:204009874C>T	ENST00000449802.1	+	32	5541	c.5208C>T	c.(5206-5208)ctC>ctT	p.L1736L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1736							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAAGCAAGCTCAAATTTCAGG	0.333													False	0	True	2:204009874	0	T	204009874	C	T	204009874	2	4	75	1	0	0	0	0	0	0	0	1	10255	813	29	2		2	NBEAL1	2	204009874	Silent	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	5642021	204009874	39189499	16	6205											
ABI2	10152	broad.mit.edu	37	chr2	204267424	204267427	+	Frame_Shift_Del	DEL	ATGA	ATGA	-													aaacaagccttcagaatcagAtgaatggaggacctttttat							TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	ATGA	ATGA	-	-	ATGA	ATGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:204267424_204267427delATGA	ENST00000422511.2	+	9	1091_1094	c.1060_1063delATGA	c.(1060-1065)atgaatfs	p.MN354fs	ABI2_ENST00000261018.7_Frame_Shift_Del_p.MN173fs|ABI2_ENST00000295851.4_Frame_Shift_Del_p.MN387fs|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Frame_Shift_Del_p.MN332fs|ABI2_ENST00000261016.6_Frame_Shift_Del_p.MN275fs|ABI2_ENST00000424558.1_Frame_Shift_Del_p.MN381fs|ABI2_ENST00000261017.5_Frame_Shift_Del_p.MN320fs|RAPH1_ENST00000457812.1_Intron			Q9NYB9	ABI2_HUMAN	abl-interactor 2	387	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TCAGAATCAGATGAATGGAGGACC	0.407													False	1	False	2:204267424	0	-	204267427	ATGA	-	204267424	7	5	75	1	0	1	0	1	0	0	0	0	89	333	12	0	984	0	ABI2	2	204267424	Frame_Shift_Del	DEL	ATGA	TCGA-HZ-A4BH-01A-11D-A26I-08	257550	204267424	38931949	17	6206											
RYBP	23429	broad.mit.edu	37	chr3	72427709	72427709	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcgagtcttttccttaaagtCtgtgataatgacggtgacgt	11	7	2	3			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:72427709C>T	ENST00000477973.2	-	4	778	c.779G>A	c.(778-780)aGa>aAa	p.R260K		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein						apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TCCTTAAAGTCTGTGATAATG	0.552													False	0	False	3:72427709	0	T	72427709	C	T	72427709	3	4	75	1	0	0	0	0	1	0	0	0	13845	913	32	2	176	2	RYBP	3	72427709	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08		72427709	125594721	18	6207											
GPR15	2838	broad.mit.edu	37	chr3	98251438	98251438	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccatactgtgcagagaaaaaGgcaactccaattaaactcat	6	10	1	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:98251438G>C	ENST00000284311.3	+	1	696	c.561G>C	c.(559-561)aaG>aaC	p.K187N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	187						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.K187N(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGAGAAAAAGGCAACTCCAA	0.473													False	0	True	3:98251438	0	C	98251438	G	C	98251438	3	2	75	1	0	0	0	0	1	0	0	0	6701	991	35	5	563	5	GPR15	3	98251438	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	25823729	98251438	99770992	19	6208											
MYLK	4638	broad.mit.edu	37	chr3	123383037	123383037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcagtgctcctggcgCgcggccaggatggtgagctt	16	13	0	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:123383037C>T	ENST00000360772.3	-	24	4278	c.3900G>A	c.(3898-3900)gcG>gcA	p.A1300A	MYLK_ENST00000475616.1_Silent_p.A1300A|MYLK_ENST00000354792.5_Silent_p.A100A|MYLK_ENST00000359169.1_Silent_p.A1300A|MYLK_ENST00000360304.3_Silent_p.A1300A|MYLK_ENST00000346322.5_Silent_p.A1231A			Q15746	MYLK_HUMAN	myosin light chain kinase	1300	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.			A -> G (in Ref. 1; CAA59685).	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTCCTGGCGCGCGGCCAGGA	0.627													False	0	True	3:123383037	0	T	123383037	C	T	123383037	2	4	75	1	0	0	0	0	0	0	0	1	10123	755	27	1		1	MYLK	3	123383037	Silent	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	25131599	123383037	74639393	20	6209											
SEPSECS	51091	broad.mit.edu	37	chr4	25158572	25158572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacagcagaaatatcaccGgatcgtccaatgccatgaat	8	11	1	2			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr4:25158572G>A	ENST00000382103.2	-	3	366	c.294C>T	c.(292-294)tcC>tcT	p.S98S	SEPSECS_ENST00000302922.3_Silent_p.S19S	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	98				S -> P (in Ref. 8; AAG00491).	selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	AAATATCACCGGATCGTCCAA	0.398													False	0	False	4:25158572	0	A	25158572	G	A	25158572	2	1	75	1	0	0	0	0	0	0	0	1	14139	1103	39	1		1	SEPSECS	4	25158572	Silent	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08		25158572	165995704	21	6210											
PCDH18	54510	broad.mit.edu	37	chr4	138451227	138451227	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tattcaaagatcatgcacttCagaaggactttggtatgtag	9	6	3	2			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr4:138451227C>T	ENST00000344876.4	-	1	2402	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	PCDH18_ENST00000412923.2_Silent_p.L672L|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.L452L|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	672	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCATGCACTTCAGAAGGACTT	0.423													False	0	False	4:138451227	0	T	138451227	C	T	138451227	2	4	75	1	0	0	0	0	0	0	0	1	11581	813	29	2		2	PCDH18	4	138451227	Silent	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	113292655	138451227	52703049	22	6211											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239938	5239938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgtggactggcccggccGgtacaaattttcgggcacta	13	12	0	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:5239938G>A	ENST00000274181.7	+	16	2561	c.2423G>A	c.(2422-2424)cGg>cAg	p.R808Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	808	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCCGGCCGGTACAAATTT	0.512													False	0	True	5:5239938	0	A	5239938	G	A	5239938	3	1	75	1	0	0	0	0	1	0	0	0	261	1116	39	1	2485	1	ADAMTS16	5	5239938	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08		5239938	175675322	23	6212											
SKP2	6502	broad.mit.edu	37	chr5	36170522	36170522	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctgaatttgccctgcagActttgctaagcagctgttcc	8	12	1	2			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:36170522A>G	ENST00000274255.6	+	6	944	c.748A>G	c.(748-750)Act>Gct	p.T250A	SKP2_ENST00000274254.5_Missense_Mutation_p.T250A|SKP2_ENST00000546211.1_Missense_Mutation_p.T36A|SKP2_ENST00000508514.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCCCTGCAGACTTTGCTAAG	0.383													False	0	False	5:36170522	0	G	36170522	A	G	36170522	3	3	75	1	0	0	0	0	1	0	0	0	14443	275	10	4	770	4	SKP2	5	36170522	Missense_Mutation	SNP	A	TCGA-HZ-A4BH-01A-11D-A26I-08	30930584	36170522	144744738	24	6213											
DHX29	54505	broad.mit.edu	37	chr5	54579096	54579097	+	Frame_Shift_Ins	INS	-	-	GTCCC													ttggctaaactaactgctgaINSgattcttcggggttgggtac							TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:54579096_54579097insGTCCC	ENST00000251636.5	-	11	2047_2048	c.1899_1900insGGGAC	c.(1897-1902)atctcafs	p.S634fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	634	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTAACTGCTGAGATTCTTCGGG	0.416													False	0	False	5:54579096	0	GTCCC	54579097	-	GTCCC	54579096	7	5	75	1	0	1	1	0	0	0	0	0	4533	304	11	0	2277	0	DHX29	5	54579096	Frame_Shift_Ins	INS	-	TCGA-HZ-A4BH-01A-11D-A26I-08	18408574	54579096	126336164	25	6214											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	75	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-HZ-A4BH-01A-11D-A26I-08	24031348	78610444	102304816	26	6215											
CKMT2	1160	broad.mit.edu	37	chr5	80550266	80550266	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactaagacacaacggctatGaccccagggtgatgaagcac	10	11	0	4			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:80550266G>A	ENST00000424301.2	+	5	641	c.403G>A	c.(403-405)Gac>Aac	p.D135N	CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.D135N|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.D135N	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	135					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CAACGGCTATGACCCCAGGGT	0.532													False	0	False	5:80550266	0	A	80550266	G	A	80550266	3	1	75	1	0	0	0	0	1	0	0	0	3474	1290	45	2	413	2	CKMT2	5	80550266	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	1939822	80550266	100364994	27	6216											
CSNK1G3	1456	broad.mit.edu	37	chr5	122911485	122911487	+	In_Frame_Del	DEL	CTT	CTT	-													agagatgtaaaacctgagaaCttcttaataggacgaccagg							TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:122911485_122911487delCTT	ENST00000360683.2	+	5	531_533	c.501_503delCTT	c.(499-504)aacttc>aac	p.F168del	CSNK1G3_ENST00000512718.3_In_Frame_Del_p.F93del|CSNK1G3_ENST00000361991.2_In_Frame_Del_p.F168del|CSNK1G3_ENST00000510842.2_In_Frame_Del_p.F168del|CSNK1G3_ENST00000511130.2_In_Frame_Del_p.F55del|CSNK1G3_ENST00000395411.1_In_Frame_Del_p.F168del|CSNK1G3_ENST00000521364.1_In_Frame_Del_p.F168del|CSNK1G3_ENST00000345990.4_In_Frame_Del_p.F168del|CSNK1G3_ENST00000395412.1_In_Frame_Del_p.F168del			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	168	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AACCTGAGAACTTCTTAATAGGA	0.335													False	2	False	5:122911485	0	-	122911487	CTT	-	122911485	7	5	75	1	0	1	0	1	0	0	0	0	3981	564	20	0	519	0	CSNK1G3	5	122911485	In_Frame_Del	DEL	CTT	TCGA-HZ-A4BH-01A-11D-A26I-08	42361219	122911485	58003775	28	6217											
PCDHA3	0	broad.mit.edu	37	chr5	140180975	140180975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggtgccgcgcctgttcCgggtggcgtccaaaagacac	14	13	0	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:140180975C>T	ENST00000522353.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617													False	0	True	5:140180975	0	T	140180975	C	T	140180975	3	4	75	1	0	0	0	0	1	0	0	0	11593	643	23	1	195	1	PCDHA3	5	140180975	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	17269490	140180975	40734285	29	6218											
PCDH12	51294	broad.mit.edu	37	chr5	141335640	141335640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccaagccattgggagtctCgatgggcaccagcaggtggc	15	12	1	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:141335640C>T	ENST00000231484.3	-	1	2987	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	593					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGAGTCTCGATGGGCACC	0.597													False	0	False	5:141335640	0	T	141335640	C	T	141335640	3	4	75	1	0	0	0	0	1	0	0	0	11578	893	31	1	1793	1	PCDH12	5	141335640	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	1154665	141335640	39579620	30	6219											
GABRG2	0	broad.mit.edu	37	chr5	161576159	161576159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctcagcaccattgcccGgaaatcgctccccaaggtct	7	18	2	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:161576159G>A	ENST00000356592.3	+	8	1428	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	GABRG2_ENST00000393933.4_Missense_Mutation_p.R228Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.R363Q|GABRG2_ENST00000361925.4_Missense_Mutation_p.R323Q	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	323					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ACCATTGCCCGGAAATCGCTC	0.473													False	0	True	5:161576159	0	A	161576159	G	A	161576159	3	1	75	1	0	0	0	0	1	0	0	0	6214	1116	39	1	1122	1	GABRG2	5	161576159	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	20240519	161576159	19339101	31	6220											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	75	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-HZ-A4BH-01A-11D-A26I-08		7393450	163721617	32	6221											
PRL	5617	broad.mit.edu	37	chr6	22294688	22294688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggatgtagtgggacaggaCgacggcgcggtcaaacaggt	17	7	1	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:22294688C>T	ENST00000306482.1	-	2	672	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	52					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGGGACAGGACGACGGCGCGG	0.582													False	0	False	6:22294688	0	T	22294688	C	T	22294688	3	4	75	1	0	0	0	0	1	0	0	0	12604	536	19	1	545	1	PRL	6	22294688	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	14901238	22294688	148820379	33	6222											
EYS	346007	broad.mit.edu	37	chr6	66063415	66063415	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttatcttggcaaataccatgGaaggtgactccacagtagca	9	9	1	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:66063415G>C	ENST00000503581.1	-	9	1932	c.1395C>G	c.(1393-1395)ttC>ttG	p.F465L	EYS_ENST00000342421.5_Missense_Mutation_p.F465L|EYS_ENST00000370621.3_Missense_Mutation_p.F465L|EYS_ENST00000370618.3_Missense_Mutation_p.F465L|EYS_ENST00000370616.2_Missense_Mutation_p.F465L|EYS_ENST00000393380.2_Missense_Mutation_p.F465L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	465					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAATACCATGGAAGGTGACTC	0.373													False	0	False	6:66063415	0	C	66063415	G	C	66063415	3	2	75	1	0	0	0	0	1	0	0	0	5365	1165	41	5	8141	5	EYS	6	66063415	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	43768727	66063415	105051652	34	6223											
SLC16A10	117247	broad.mit.edu	37	chr6	111498424	111498424	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctttatacagttccatcgaGcctctgtaccttacctatgg	6	12	2	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:111498424G>C	ENST00000368851.5	+	3	673	c.498G>C	c.(496-498)gaG>gaC	p.E166D	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	166					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GTTCCATCGAGCCTCTGTACC	0.398													False	0	False	6:111498424	0	C	111498424	G	C	111498424	3	2	75	1	0	0	0	0	1	0	0	0	14484	962	34	5	508	5	SLC16A10	6	111498424	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	45435009	111498424	59616643	35	6224											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	75	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-HZ-A4BH-01A-11D-A26I-08		44153778	114984885	36	6225											
MYO1G	64005	broad.mit.edu	37	chr7	45003667	45003667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctcaaggggcacggccCgcatcacccggtactgccgg	13	18	2	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr7:45003667C>T	ENST00000258787.7	-	20	2862	c.2726G>A	c.(2725-2727)cGg>cAg	p.R909Q		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	909						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGGCACGGCCCGCATCACCCG	0.637													False	0	True	7:45003667	0	T	45003667	C	T	45003667	3	4	75	1	0	0	0	0	1	0	0	0	10141	652	23	1	342	1	MYO1G	7	45003667	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	849889	45003667	114134996	37	6226											
DEFB136	613210	broad.mit.edu	37	chr8	11831528	11831528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaatattgtggcagaacGcaatccacctgtatcctggc	9	11	0	2			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:11831528G>A	ENST00000382209.2	-	2	154	c.155C>T	c.(154-156)gCg>gTg	p.A52V		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	52					defense response to bacterium	extracellular region				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GTGGCAGAACGCAATCCACCT	0.458													False	0	False	8:11831528	0	A	11831528	G	A	11831528	3	1	75	1	0	0	0	0	1	0	0	0	4450	1087	38	1	83	1	DEFB136	8	11831528	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08		11831528	134532494	38	6227											
LZTS1	11178	broad.mit.edu	37	chr8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-													agctcattctcacagacctcCagctccaggcccttggtgcg					rs148039718	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENST00000381569.1	-	4	1651_1698	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel	p.RTQDLEGALRTKGLEL432del	LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	432					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACAGACCTCCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCTCAGCTCCAGG	0.657													False	1	True	8:20107683	0	-	20107730	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	20107683	7	5	75	1	0	1	0	1	0	0	0	0	9201	581	21	0	453	0	LZTS1	8	20107683	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	TCGA-HZ-A4BH-01A-11D-A26I-08	8276155	20107683	126256339	39	6228											
FAM154A	158297	broad.mit.edu	37	chr9	18941744	18941744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattgtaatctttcttataCgtcgtgagcaaatccatatt	7	7	2	1	rs112030642		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:18941744C>T	ENST00000380534.4	-	3	591	c.312G>A	c.(310-312)acG>acA	p.T104T	FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	104										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTTTCTTATACGTCGTGAGCA	0.478													False	0	False	9:18941744	0	T	18941744	C	T	18941744	2	4	75	1	0	0	0	0	0	0	0	1	5499	523	19	1		1	FAM154A	9	18941744	Silent	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08		18941744	122271687	40	6229											
CDKN2A	1029	broad.mit.edu	37	chr9	21971111	21971111	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gccctcccgggcagcgtcgtGcacgggtcgggtgagagtgg	19	12	0	1	rs121913385		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:21971111G>C	ENST00000579755.1	-	2	582	c.290C>G	c.(289-291)gCa>gGa	p.A97G	CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83D|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83D|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138G|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83D|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32D|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32D|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97G			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	False	9:21971111	0	C	21971111	G	C	21971111	3	2	75	1	0	0	0	0	1	0	0	0	3184	1319	46	5	231	5	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	3029367	21971111	119242320	41	6230											
NUDT2	318	broad.mit.edu	37	chr9	34343390	34343390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcagttcaaggagatgaaGgcagcgctccaagaaggaca	13	9	2	3			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:34343390G>T	ENST00000379158.2	+	5	754	c.396G>T	c.(394-396)aaG>aaT	p.K132N	NUDT2_ENST00000346365.4_Missense_Mutation_p.K132N|NUDT2_ENST00000379155.5_Missense_Mutation_p.K132N	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	132	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AGGAGATGAAGGCAGCGCTCC	0.567													False	0	False	9:34343390	0	T	34343390	G	T	34343390	3	4	75	1	0	0	0	0	1	0	0	0	10805	991	35	3	402	3	NUDT2	9	34343390	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	12372279	34343390	106870041	42	6231											
NTNG2	84628	broad.mit.edu	37	chr9	135073821	135073821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgccggccccgacctgCgcaacatggacaacctctac	8	17	2	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:135073821C>T	ENST00000393229.3	+	3	1458	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	NTNG2_ENST00000372179.3_Missense_Mutation_p.R228C|NTNG2_ENST00000360670.3_Missense_Mutation_p.R228C|NTNG2_ENST00000393228.4_Missense_Mutation_p.R228C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	228	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCCCGACCTGCGCAACATGGA	0.667													False	0	False	9:135073821	0	T	135073821	C	T	135073821	3	4	75	1	0	0	0	0	1	0	0	0	10773	768	27	1	688	1	NTNG2	9	135073821	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	100730431	135073821	6139610	43	6232											
RSU1	6251	broad.mit.edu	37	chr10	16794556	16794556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctagttctgggggcagaaCggtgaggcggttcccctgaa	15	10	1	3			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:16794556C>T	ENST00000377921.3	-	6	881	c.580G>A	c.(580-582)Gtt>Att	p.V194I	RSU1_ENST00000345264.5_Missense_Mutation_p.V194I|RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000602389.1_Missense_Mutation_p.V141I			Q15404	RSU1_HUMAN	Ras suppressor protein 1	194					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		GGGGGCAGAACGGTGAGGCGG	0.468													False	0	False	10:16794556	0	T	16794556	C	T	16794556	3	4	75	1	0	0	0	0	1	0	0	0	13795	536	19	1	265	1	RSU1	10	16794556	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08		16794556	118740191	44	6233											
ANKRD30A	91074	broad.mit.edu	37	chr10	37506771	37506771	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctctcagaatacaagatAtagaattgaagagtgtagaa	10	4	1	6			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:37506771A>G	ENST00000374660.1	+	39	3520	c.3421A>G	c.(3421-3423)Ata>Gta	p.I1141V	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1022V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I1022V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1116						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATACAAGATATAGAATTGAA	0.274													False	0	False	10:37506771	0	G	37506771	A	G	37506771	3	3	75	1	0	0	0	0	1	0	0	0	658	449	16	4	3194	4	ANKRD30A	10	37506771	Missense_Mutation	SNP	A	TCGA-HZ-A4BH-01A-11D-A26I-08	20712215	37506771	98027976	45	6234											
FRMPD2	143162	broad.mit.edu	37	chr10	49457187	49457187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagctgcagaaagcagGgctgaccaggggcaaaccac	12	13	0	2			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:49457187G>A	ENST00000374201.3	-	3	488	c.186C>T	c.(184-186)gcC>gcT	p.A62A	FRMPD2_ENST00000305531.3_Silent_p.A60A|FRMPD2_ENST00000407470.4_Silent_p.A53A	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	62	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAAAGCAGGGCTGACCAGG	0.552													False	0	True	10:49457187	0	A	49457187	G	A	49457187	2	1	75	1	0	0	0	0	0	0	0	1	6100	1219	43	2		2	FRMPD2	10	49457187	Silent	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	11950416	49457187	86077560	46	6235											
CHAT	1103	broad.mit.edu	37	chr10	50833616	50833616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcctaccggctccccGgccatacccaggacacgctg	8	20	1	0	rs146236256		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:50833616G>A	ENST00000395562.2	+	7	1073	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	CHAT_ENST00000455728.2_Missense_Mutation_p.G166S|CHAT_ENST00000351556.3_Missense_Mutation_p.G166S|CHAT_ENST00000395559.2_Missense_Mutation_p.G166S|CHAT_ENST00000337653.2_Missense_Mutation_p.G284S|CHAT_ENST00000339797.1_Missense_Mutation_p.G166S	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	284					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCGGCTCCCCGGCCATACCCA	0.592													False	0	True	10:50833616	0	A	50833616	G	A	50833616	3	1	75	1	0	0	0	0	1	0	0	0	3336	1116	39	1	916	1	CHAT	10	50833616	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	1376429	50833616	84701131	47	6236											
GRID1	2894	broad.mit.edu	37	chr10	87362370	87362370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagggccgagagctcaatcGacgctggggaaatctgcttg	14	11	2	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:87362370G>A	ENST00000327946.7	-	16	2775	c.2690C>T	c.(2689-2691)tCg>tTg	p.S897L	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.S468L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	897						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GAGCTCAATCGACGCTGGGGA	0.592										Multiple Myeloma(13;0.14)			False	0	False	10:87362370	0	A	87362370	G	A	87362370	3	1	75	1	0	0	0	0	1	0	0	0	6818	1059	37	1	343	1	GRID1	10	87362370	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	36528754	87362370	48172377	48	6237											
OR5L1	219437	broad.mit.edu	37	chr11	55579400	55579400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgctacttctgtgggaCggtgtgttctctgattcatt	11	8	3	1	rs144467940	by1000genomes	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:55579400C>T	ENST00000333973.2	+	1	547	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.453													False	0	False	11:55579400	0	T	55579400	C	T	55579400	3	4	75	1	0	0	0	0	1	0	0	0	11238	536	19	1	460	1	OR5L1	11	55579400	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08		55579400	79427116	49	6238											
RARRES3	5920	broad.mit.edu	37	chr11	63307030	63307030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacctgattgagattttcCgccttggctatgagcactgg	12	9	0	4			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:63307030C>T	ENST00000439013.2	+	2	105	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	RARRES3_ENST00000255688.3_Missense_Mutation_p.R18C|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.R18C			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	18					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TGAGATTTTCCGCCTTGGCTA	0.483													False	0	False	11:63307030	0	T	63307030	C	T	63307030	3	4	75	1	0	0	0	0	1	0	0	0	13136	652	23	1	58	1	RARRES3	11	63307030	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	7727630	63307030	71699486	50	6239											
NRXN2	9379	broad.mit.edu	37	chr11	64434761	64434761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtccacgtgacaccactCgccatcattgaccttgcggc	9	15	1	2			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:64434761C>T	ENST00000265459.6	-	9	2220	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	NRXN2_ENST00000377559.3_Missense_Mutation_p.E556K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E580K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E587K	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	587	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding	p.E587K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGACACCACTCGCCATCATTG	0.592													False	0	False	11:64434761	0	T	64434761	C	T	64434761	3	4	75	1	0	0	0	0	1	0	0	0	10734	893	31	1	3708	1	NRXN2	11	64434761	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	1127731	64434761	70571755	51	6240											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	75	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08		25398284	108453611	52	6241											
AGAP2	116986	broad.mit.edu	37	chr12	58127884	58127884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcagctgcccatggagacGgctcacagcctggaaactgt	11	13	2	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:58127884G>A	ENST00000257897.3	-	5	551	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	AGAP2_ENST00000547588.1_Missense_Mutation_p.R492C	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	492					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R156S(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCATGGAGACGGCTCACAGCC	0.592													False	0	False	12:58127884	0	A	58127884	G	A	58127884	3	1	75	1	0	0	0	0	1	0	0	0	368	1116	39	1	2164	1	AGAP2	12	58127884	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	32729600	58127884	75724011	53	6242											
MSRB3	253827	broad.mit.edu	37	chr12	65857005	65857005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaagatactgcataaattCggctgccttgtcttttacac	7	9	1	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:65857005C>T	ENST00000308259.5	+	7	735	c.461C>T	c.(460-462)tCg>tTg	p.S154L	MSRB3_ENST00000355192.3_Missense_Mutation_p.S161L|MSRB3_ENST00000535664.1_Missense_Mutation_p.S154L	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	161					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	p.S161L(1)|p.S154L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGCATAAATTCGGCTGCCTTG	0.547													False	0	False	12:65857005	0	T	65857005	C	T	65857005	3	4	75	1	0	0	0	0	1	0	0	0	9956	893	31	1	584	1	MSRB3	12	65857005	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	7729121	65857005	67994890	54	6243											
NBEA	26960	broad.mit.edu	37	chr13	35735929	35735929	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaacaagaccgagatctcCgagttgatttaggatttcga	9	10	1	3			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr13:35735929C>T	ENST00000400445.3	+	23	4438	c.3904C>T	c.(3904-3906)Cga>Tga	p.R1302*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.R1302*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.R1302*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R1302*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1302						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCGAGATCTCCGAGTTGATTT	0.433													False	0	False	13:35735929	0	T	35735929	C	T	35735929	4	4	75	1	0	0	0	0	0	1	0	0	10254	644	23	1	3994	1	NBEA	13	35735929	Nonsense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08		35735929	79433949	55	6244											
COL4A2	1284	broad.mit.edu	37	chr13	111121596	111121596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgaggaatcccaggcttcGcaggagctgatggaggacca	14	11	0	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr13:111121596G>A	ENST00000360467.5	+	28	2434	c.2128G>A	c.(2128-2130)Gca>Aca	p.A710T		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	710	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCAGGCTTCGCAGGAGCTGA	0.572													False	0	False	13:111121596	0	A	111121596	G	A	111121596	3	1	75	1	0	0	0	0	1	0	0	0	3713	1087	38	1	2234	1	COL4A2	13	111121596	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	75385667	111121596	4048282	56	6245											
FAM179B	23116	broad.mit.edu	37	chr14	45431977	45431977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttccaggctttgcaagCtgctttgccgcggcggggcg	16	13	0	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr14:45431977C>T	ENST00000361462.2	+	1	536	c.353C>T	c.(352-354)gCt>gTt	p.A118V	FAM179B_ENST00000361577.3_Missense_Mutation_p.A118V|FAM179B_ENST00000382233.2_Missense_Mutation_p.A118V			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	118							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTTTGCAAGCTGCTTTGCCG	0.617													False	0	False	14:45431977	0	T	45431977	C	T	45431977	3	4	75	1	0	0	0	0	1	0	0	0	5542	797	28	2	355	2	FAM179B	14	45431977	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08		45431977	61917563	57	6246											
APBA2	321	broad.mit.edu	37	chr15	29346316	29346316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactccagctctgactacGtgaacaacacctctgaggag	11	12	2	3	rs140795962		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:29346316G>A	ENST00000558402.1	+	5	828	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	APBA2_ENST00000558259.1_Missense_Mutation_p.V77M|APBA2_ENST00000561069.1_Missense_Mutation_p.V77M|APBA2_ENST00000558330.1_Missense_Mutation_p.V77M|APBA2_ENST00000411764.1_Missense_Mutation_p.V77M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	77					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCTGACTACGTGAACAACAC	0.637													False	0	False	15:29346316	0	A	29346316	G	A	29346316	3	1	75	1	0	0	0	0	1	0	0	0	759	1145	40	1	231	1	APBA2	15	29346316	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08		29346316	73185076	58	6247											
AXIN1	8312	broad.mit.edu	37	chr16	343713	343713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgtggcttcctcgtccccGaagaccttggggaacaagag	13	12	0	2			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:343713G>A	ENST00000262320.3	-	8	2332	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	AXIN1_ENST00000354866.3_Missense_Mutation_p.S654L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	654	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCGTCCCCGAAGACCTTGG	0.637													False	0	True	16:343713	0	A	343713	G	A	343713	3	1	75	1	0	0	0	0	1	0	0	0	1240	1059	37	1	643	1	AXIN1	16	343713	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08		343713	90011040	59	6248											
ZNF267	10308	broad.mit.edu	37	chr16	31926313	31926313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaatacaaatgtaaagAatttgaggaagtctttcttc	6	5	2	2			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:31926313A>G	ENST00000300870.10	+	4	952	c.743A>G	c.(742-744)gAa>gGa	p.E248G		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	248					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAATGTAAAGAATTTGAGGAA	0.303													False	0	False	16:31926313	0	G	31926313	A	G	31926313	3	3	75	1	0	0	0	0	1	0	0	0	17889	246	9	4	757	4	ZNF267	16	31926313	Missense_Mutation	SNP	A	TCGA-HZ-A4BH-01A-11D-A26I-08	31582600	31926313	58428440	60	6249											
HEATR3	55027	broad.mit.edu	37	chr16	50112735	50112735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactaaagatcttatctgaaGttttgggaatggatgctggt	11	4	2	2			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:50112735G>A	ENST00000299192.7	+	7	1038	c.847G>A	c.(847-849)Gtt>Att	p.V283I	HEATR3_ENST00000285767.4_Missense_Mutation_p.V197I	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	283							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CTTATCTGAAGTTTTGGGAAT	0.378													False	0	True	16:50112735	0	A	50112735	G	A	50112735	3	1	75	1	0	0	0	0	1	0	0	0	7076	1029	36	2	873	2	HEATR3	16	50112735	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	18186422	50112735	40242018	61	6250											
RLTPR	146206	broad.mit.edu	37	chr16	67682804	67682804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccacatacagctgcgctcGgccggcgcccaggtgataca	11	16	0	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:67682804G>A	ENST00000334583.6	+	17	1846	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	RLTPR_ENST00000545661.1_Silent_p.S470S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	506										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGCTGCGCTCGGCCGGCGCCC	0.682													False	0	True	16:67682804	0	A	67682804	G	A	67682804	2	1	75	1	0	0	0	0	0	0	0	1	13473	1103	39	1		1	RLTPR	16	67682804	Silent	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	17570069	67682804	22671949	62	6251											
ADAD2	161931	broad.mit.edu	37	chr16	84229512	84229512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaagcctgtgtgctacGtggcgccctcgctctgtgac	13	13	1	2	rs142081193	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:84229512G>A	ENST00000268624.3	+	8	1483	c.1390G>A	c.(1390-1392)Gtg>Atg	p.V464M	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.V382M	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	382	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGTGTGCTACGTGGCGCCCTC	0.716													False	0	False	16:84229512	0	A	84229512	G	A	84229512	3	1	75	1	0	0	0	0	1	0	0	0	232	1145	40	1	1420	1	ADAD2	16	84229512	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	16546708	84229512	6125241	63	6252											
OR1D2	4991	broad.mit.edu	37	chr17	2996105	2996105	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaaggagaggttggccagGaagaagtacacgggggtgtg	20	4	0	3			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:2996105G>A	ENST00000331459.1	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	62					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGTTGGCCAGGAAGAAGTACA	0.537													False	0	False	17:2996105	0	A	2996105	G	A	2996105	2	1	75	1	0	0	0	0	0	0	0	1	11021	1165	41	2		2	OR1D2	17	2996105	Silent	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08		2996105	78199105	64	6253											
OR1A1	8383	broad.mit.edu	37	chr17	3119669	3119669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtctctttgtattatgGtacagtcatgggcacgtatt	11	6	2	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:3119669G>A	ENST00000304094.1	+	1	755	c.755G>A	c.(754-756)gGt>gAt	p.G252D		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TTGTATTATGGTACAGTCATG	0.498													False	0	False	17:3119669	0	A	3119669	G	A	3119669	3	1	75	1	0	0	0	0	1	0	0	0	11017	1261	44	2	757	2	OR1A1	17	3119669	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	123564	3119669	78075541	65	6254											
TP53	7157	broad.mit.edu	37	chr17	7578526	7578526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggtcttggccagttggCaaaacatcttgttgagggca	14	8	2	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:7578526C>T	ENST00000420246.2	-	5	536	c.404G>A	c.(403-405)tGc>tAc	p.C135Y	TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y|TP53_ENST00000269305.4_Missense_Mutation_p.C135Y|TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCAGTTGGCAAAACATCTT	0.572		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)			False	0	True	17:7578526	0	T	7578526	C	T	7578526	3	4	75	1	0	0	0	0	1	0	0	0	16464	710	25	2	894	2	TP53	17	7578526	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	4458857	7578526	73616684	66	6255											
ABHD15	116236	broad.mit.edu	37	chr17	27889843	27889843	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcgactgagcaggaggaaGaagtaggggttgctgtggaa	19	4	0	2			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:27889843G>A	ENST00000307201.4	-	2	1313	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	381						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GCAGGAGGAAGAAGTAGGGGT	0.617													False	0	False	17:27889843	0	A	27889843	G	A	27889843	2	1	75	1	0	0	0	0	0	0	0	1	81	933	33	2		2	ABHD15	17	27889843	Silent	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	20311317	27889843	53305367	67	6256											
PRR11	55771	broad.mit.edu	37	chr17	57270937	57270937	+	Silent	SNP	C	C	T													caaatgtgcctgcctgcgttCtgatcacccctggagactcc							TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57270937C>T	ENST00000262293.4	+	5	799	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	163										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGCCTGCGTTCTGATCACCCC	0.532													False	0	False	17:57270937	0	T	57270937	C	T	57270937	2	4	75	1	0	0	0	0	0	0	0	1	12659	912	32	2		2	PRR11	17	57270937	Silent	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	29381094	57270937	23924273	68	6257	119	2	1	10		4	3	157	N	C	9.112349e-08
PRR11	55771	broad.mit.edu	37	chr17	57270942	57270942	+	Missense_Mutation	SNP	C	C	G													gtgcctgcctgcgttctgatCacccctggagactccaaagc							TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57270942C>G	ENST00000262293.4	+	5	804	c.492C>G	c.(490-492)atC>atG	p.I164M		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	164										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCGTTCTGATCACCCCTGGAG	0.537													False	0	False	17:57270942	0	G	57270942	C	G	57270942	3	3	75	1	0	0	0	0	1	0	0	0	12659	816	29	5	506	5	PRR11	17	57270942	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	5	57270942	23924268	69	6258	119	2	1	10		4	3	157	N	C	9.112349e-08
PRR11	55771	broad.mit.edu	37	chr17	57271031	57271031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccacctccacctctgcCacctcctccaccaccactag	2	24	1	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271031C>T	ENST00000262293.4	+	5	893	c.581C>T	c.(580-582)cCa>cTa	p.P194L		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	194	Pro-rich.									breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ccacctctgccacctcctccA	0.522													False	0	False	17:57271031	0	T	57271031	C	T	57271031	3	4	75	1	0	0	0	0	1	0	0	0	12659	594	21	2	595	2	PRR11	17	57271031	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	89	57271031	23924179	70	6259			1	10		4	3	157	N	C	9.112349e-08
PRR11	55771	broad.mit.edu	37	chr17	57271093	57271093	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagtctcgctaaagcacttCaggtaggtaacaatctagta	8	10	3	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271093C>T	ENST00000262293.4	+	5	955	c.643C>T	c.(643-645)Cag>Tag	p.Q215*		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	215										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TAAAGCACTTCAGGTAGGTAA	0.473													False	0	True	17:57271093	0	T	57271093	C	T	57271093	4	4	75	1	0	0	0	0	0	1	0	0	12659	827	29	2	657	2	PRR11	17	57271093	Nonsense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	62	57271093	23924117	71	6260			1	10		4	3	157	N	C	9.112349e-08
MAP2K7	5609	broad.mit.edu	37	chr19	7976364	7976364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctacaagaactgcaagaCggactttgaggtcctcacca	8	13	1	3			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:7976364C>T	ENST00000545011.1	+	9	1171	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M	MAP2K7_ENST00000397979.3_Missense_Mutation_p.T327M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.T334M|MAP2K7_ENST00000397983.3_Missense_Mutation_p.T343M			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	327	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	AACTGCAAGACGGACTTTGAG	0.592													False	0	False	19:7976364	0	T	7976364	C	T	7976364	3	4	75	1	0	0	0	0	1	0	0	0	9309	536	19	1	1014	1	MAP2K7	19	7976364	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08		7976364	51152619	72	6261											
COL5A3	50509	broad.mit.edu	37	chr19	10097024	10097024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgggggcccctcctcGccagcctgccccgcctgccc	12	22	0	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:10097024G>A	ENST00000264828.3	-	30	2404	c.2319C>T	c.(2317-2319)ggC>ggT	p.G773G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	773	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCCCTCCTCGCCAGCCTGCC	0.612													False	0	False	19:10097024	0	A	10097024	G	A	10097024	2	1	75	1	0	0	0	0	0	0	0	1	3721	1074	38	1		1	COL5A3	19	10097024	Silent	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	2120660	10097024	49031959	73	6262											
KCNN1	3780	broad.mit.edu	37	chr19	18099263	18099263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgtggtggctgtggtggctCggaagctggagctcaccaag	17	9	1	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:18099263C>T	ENST00000222249.9	+	7	1418	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						TGTGGTGGCTCGGAAGCTGGA	0.637													False	0	False	19:18099263	0	T	18099263	C	T	18099263	3	4	75	1	0	0	0	0	1	0	0	0	8128	875	31	1	1117	1	KCNN1	19	18099263	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	8002239	18099263	41029720	74	6263											
GRAMD1A	57655	broad.mit.edu	37	chr19	35500042	35500042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccacaccccactctggcCggagcacgccaagcagctcc	9	20	1	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:35500042C>T	ENST00000599564.1	+	3	360	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R10W|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R10W|GRAMD1A_ENST00000598073.1_3'UTR			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	10	GRAM.					integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCACTCTGGCCGGAGCACGCC	0.622													False	0	False	19:35500042	0	T	35500042	C	T	35500042	3	4	75	1	0	0	0	0	1	0	0	0	6794	643	23	1	34	1	GRAMD1A	19	35500042	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	17400779	35500042	23628941	75	6264											
PRODH2	58510	broad.mit.edu	37	chr19	36302895	36302895	+	Missense_Mutation	SNP	T	T	A													ccatagcttcagccagcctcTcggggctcagctccaaggag							TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36302895T>A	ENST00000301175.3	-	5	811	c.794A>T	c.(793-795)gAg>gTg	p.E265V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	265					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCAGCCTCTCGGGGCTCAG	0.637													False	0	False	19:36302895	0	A	36302895	T	A	36302895	3	1	75	1	0	0	0	0	1	0	0	0	12625	1551	54	5	844	5	PRODH2	19	36302895	Missense_Mutation	SNP	T	TCGA-HZ-A4BH-01A-11D-A26I-08	802853	36302895	22826088	76	6265	120	2									
PRODH2	58510	broad.mit.edu	37	chr19	36302896	36302896	+	Nonsense_Mutation	SNP	C	C	A													catagcttcagccagcctctCggggctcagctccaaggagg							TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36302896C>A	ENST00000301175.3	-	5	810	c.793G>T	c.(793-795)Gag>Tag	p.E265*		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	265					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCAGCCTCTCGGGGCTCAGC	0.637													False	0	True	19:36302896	0	A	36302896	C	A	36302896	4	1	75	1	0	0	0	0	0	1	0	0	12625	893	31	3	845	3	PRODH2	19	36302896	Nonsense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	1	36302896	22826087	77	6266	120	2									
PRODH2	58510	broad.mit.edu	37	chr19	36303115	36303115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggggggctccaggaggCcccgtgacaggtccacacac	16	14	0	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36303115C>A	ENST00000301175.3	-	4	676	c.659G>T	c.(658-660)gGc>gTc	p.G220V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	220					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCAGGAGGCCCCGTGACAG	0.652													False	0	True	19:36303115	0	A	36303115	C	A	36303115	3	1	75	1	0	0	0	0	1	0	0	0	12625	739	26	3	983	3	PRODH2	19	36303115	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	219	36303115	22825868	78	6267											
PLD3	0	broad.mit.edu	37	chr19	40882579	40882579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgtggcgtcaaggtgcgCctgctcatcagctgctgggg	17	11	3	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:40882579C>T	ENST00000409587.1	+	11	1480	c.1083C>T	c.(1081-1083)cgC>cgT	p.R361R	PLD3_ENST00000356508.5_Silent_p.R361R|PLD3_ENST00000409281.1_Silent_p.R361R|PLD3_ENST00000409419.1_Silent_p.R361R|PLD3_ENST00000409735.4_Silent_p.R361R			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	361					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TCAAGGTGCGCCTGCTCATCA	0.642													False	0	False	19:40882579	0	T	40882579	C	T	40882579	2	4	75	1	0	0	0	0	0	0	0	1	12116	726	26	2		2	PLD3	19	40882579	Silent	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	4579464	40882579	18246404	79	6268											
CCDC61	729440	broad.mit.edu	37	chr19	46506729	46506729	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaaacagttcaacatcttCtgtcatatgctggagtcagc	7	10	6	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:46506729C>T	ENST00000263284.2	+	4	372	c.372C>T	c.(370-372)ttC>ttT	p.F124F	CCDC61_ENST00000595358.1_Silent_p.F67F|CCDC61_ENST00000594087.1_Silent_p.F67F|CCDC61_ENST00000536603.1_Silent_p.F67F					coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		TCAACATCTTCTGTCATATGC	0.567													False	0	False	19:46506729	0	T	46506729	C	T	46506729	2	4	75	1	0	0	0	0	0	0	0	1	2853	912	32	2		2	CCDC61	19	46506729	Silent	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08	5624150	46506729	12622254	80	6269											
BAGE2	85319	broad.mit.edu	37	chr21	11058247	11058247	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcggctcctgcagcacaaGgataatgatacatctgggta	11	9	1	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr21:11058247G>A	ENST00000470054.1	-	0	400									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCAGCACAAGGATAATGATA	0.433													False	0	False	21:11058247	0	A	11058247	G	A	11058247	1	1	75	0	1	0	0	0	0	0	0	0	1296	1000	35	2		2	BAGE2	21	11058247	RNA	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08		11058247	37071648	81	6270											
CLTCL1	8218	broad.mit.edu	37	chr22	19184149	19184149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccaacagcaagatcagctCctcaaagtagccacgatcct	6	14	2	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:19184149C>T	ENST00000263200.10	-	25	3964	c.3892G>A	c.(3892-3894)Gag>Aag	p.E1298K	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1298K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1298K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1298	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAGATCAGCTCCTCAAAGTAG	0.612			T	?	ALCL								False	0	False	22:19184149	0	T	19184149	C	T	19184149	3	4	75	1	0	0	0	0	1	0	0	0	3590	864	30	2	1062	2	CLTCL1	22	19184149	Missense_Mutation	SNP	C	TCGA-HZ-A4BH-01A-11D-A26I-08		19184149	32120417	82	6271											
CCDC116	164592	broad.mit.edu	37	chr22	21991276	21991276	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acatggacaatgagggccgtGataaagccgagattgaagat	13	6	0	5			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:21991276G>T	ENST00000292779.3	+	5	1920	c.1759G>T	c.(1759-1761)Gat>Tat	p.D587Y		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TGAGGGCCGTGATAAAGCCGA	0.557													False	0	False	22:21991276	0	T	21991276	G	T	21991276	3	4	75	1	0	0	0	0	1	0	0	0	2773	1290	45	3	1773	3	CCDC116	22	21991276	Missense_Mutation	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	2807127	21991276	29313290	83	6272											
MYO18B	84700	broad.mit.edu	37	chr22	26348272	26348274	+	In_Frame_Del	DEL	CAT	CAT	-													ctgcaggtggctcagatgcgCatcgagtacctggaacagtc							TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	CAT	CAT	-	-	CAT	CAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:26348272_26348274delCAT	ENST00000407587.2	+	38	6025_6027	c.5856_5858delCAT	c.(5854-5859)cgcatc>cgc	p.I1953del	MYO18B_ENST00000536101.1_In_Frame_Del_p.I1952del|MYO18B_ENST00000335473.7_In_Frame_Del_p.I1952del			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1952	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCAGATGCGCATCGAGTACCTG	0.547													False	1	False	22:26348272	0	-	26348274	CAT	-	26348272	7	5	75	1	0	1	0	1	0	0	0	0	10133	697	25	0	5999	0	MYO18B	22	26348272	In_Frame_Del	DEL	CAT	TCGA-HZ-A4BH-01A-11D-A26I-08	4356996	26348272	24956294	84	6273											
KCNJ4	3761	broad.mit.edu	37	chr22	38823340	38823340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccataaagcgggctgtcctcGtcgatctcgtggacaatgat	11	11	1	1			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:38823340G>A	ENST00000303592.3	-	2	1056	c.798C>T	c.(796-798)gaC>gaT	p.D266D	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	266					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGCTGTCCTCGTCGATCTCGT	0.607													False	0	False	22:38823340	0	A	38823340	G	A	38823340	2	1	75	1	0	0	0	0	0	0	0	1	8103	1136	40	1		1	KCNJ4	22	38823340	Silent	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08	12475068	38823340	12481226	85	6274											
FAM47A	158724	broad.mit.edu	37	chrX	34150323	34150323	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcgaagcacttggaaggccGtttgttacagtaccagggct	13	10	0	0			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrX:34150323G>T	ENST00000346193.3	-	1	124	c.73C>A	c.(73-75)Cgg>Agg	p.R25R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	25										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCCGTTTGTTACAG	0.612													False	0	True	X:34150323	0	T	34150323	G	T	34150323	2	4	75	1	0	0	0	0	0	0	0	1	5609	1144	40	3		3	FAM47A	23	34150323	Silent	SNP	G	TCGA-HZ-A4BH-01A-11D-A26I-08		34150323	121120237	86	6275											
SHROOM4	57477	broad.mit.edu	37	chrX	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-													aatactggggtggcagctccTcttcctcctcctctgcctcc					rs3747282	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrX:50350672_50350674delTCT	ENST00000460112.3	-	5	3574_3576	c.3120_3122delAGA	c.(3118-3123)gaagag>gag	p.1040_1041EE>E	SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													False	1	False	X:50350672	0	-	50350674	TCT	-	50350672	7	5	75	1	0	1	0	1	0	0	0	0	14377	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-HZ-A4BH-01A-11D-A26I-08	16200349	50350672	104919888	87	6276											
CPSF3L	54973	broad.mit.edu	37	chr1	1254756	1254756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaggtgaagaagttggcctCgcccttcttgtctacggcga	14	10	2	2			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:1254756C>T	ENST00000540437.1	-	6	822	c.367G>A	c.(367-369)Gag>Aag	p.E123K	CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.E117K|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000435064.1_Missense_Mutation_p.E117K|CPSF3L_ENST00000545578.1_Missense_Mutation_p.E88K|CPSF3L_ENST00000411962.1_Intron	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	117						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AAGTTGGCCTCGCCCTTCTTG	0.597													False	0	False	1:1254756	0	T	1254756	C	T	1254756	3	4	76	1	0	0	0	0	1	0	0	0	3850	893	31	1	1509	1	CPSF3L	1	1254756	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08		1254756	247995865	1	6277											
MEGF6	1953	broad.mit.edu	37	chr1	3422767	3422767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcacagttgcatttcttgCgacagtgcttgccatagtag	11	9	1	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:3422767C>T	ENST00000356575.4	-	15	2049	c.1823G>A	c.(1822-1824)cGc>cAc	p.R608H	MEGF6_ENST00000294599.4_Missense_Mutation_p.R503H	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	608	EGF-like 11.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCATTTCTTGCGACAGTGCTT	0.657													False	0	False	1:3422767	0	T	3422767	C	T	3422767	3	4	76	1	0	0	0	0	1	0	0	0	9529	768	27	1	2894	1	MEGF6	1	3422767	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	2168011	3422767	245827854	2	6278											
PTCHD2	57540	broad.mit.edu	37	chr1	11595630	11595630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcctcgttggctcctccGtggattactgcgtccacctg	9	16	0	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:11595630G>A	ENST00000294484.6	+	20	3883	c.3745G>A	c.(3745-3747)Gtg>Atg	p.V1249M	PTCHD2_ENST00000304391.6_Missense_Mutation_p.R135H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1249M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1249					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGCTCCTCCGTGGATTACTG	0.647													False	0	False	1:11595630	0	A	11595630	G	A	11595630	3	1	76	1	0	0	0	0	1	0	0	0	12809	1145	40	1	3819	1	PTCHD2	1	11595630	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	8172863	11595630	237654991	3	6279											
AKR7A3	22977	broad.mit.edu	37	chr1	19615114	19615136	+	Frame_Shift_Del	DEL	TGCGGCGCTGGTGGGCGCGTCCA	TGCGGCGCTGGTGGGCGCGTCCA	-													tccaggaaggcgcgcgtgacTgcggcgctggtgggcgcgtc							TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	TGCGGCGCTGGTGGGCGCGTCCA	TGCGGCGCTGGTGGGCGCGTCCA	-	-	TGCGGCGCTGGTGGGCGCGTCCA	TGCGGCGCTGGTGGGCGCGTCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:19615114_19615136delTGCGGCGCTGGTGGGCGCGTCCA	ENST00000361640.4	-	1	608_630	c.68_90delTGGACGCGCCCACCAGCGCCGCA	c.(67-90)atggacgcgcccaccagcgccgcafs	p.MDAPTSAA23fs		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	23					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCGCGTGACTGCGGCGCTGGTGGGCGCGTCCATGCGGCGCCC	0.722													False	1	True	1:19615114	0	-	19615136	TGCGGCGCTGGTGGGCGCGTCCA	-	19615114	7	5	76	1	0	1	0	1	0	0	0	0	476	1567	55	0	933	0	AKR7A3	1	19615114	Frame_Shift_Del	DEL	TGCGGCGCTGGTGGGCGCGTCCA	TCGA-HZ-A4BK-01A-11D-A26I-08	8019484	19615114	229635507	4	6280											
COL11A1	1301	broad.mit.edu	37	chr1	103453235	103453235	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtctccagttgggcctGctcgacctttgggtccttca	12	13	2	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:103453235G>C	ENST00000358392.2	-	30	2809	c.2492C>G	c.(2491-2493)gCa>gGa	p.A831G	COL11A1_ENST00000370096.3_Missense_Mutation_p.A819G|COL11A1_ENST00000353414.4_Missense_Mutation_p.A780G|COL11A1_ENST00000512756.1_Missense_Mutation_p.A703G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	819	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGTTGGGCCTGCTCGACCTTT	0.473													False	0	False	1:103453235	0	C	103453235	G	C	103453235	3	2	76	1	0	0	0	0	1	0	0	0	3690	1319	46	5	3116	5	COL11A1	1	103453235	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	83838121	103453235	145797386	5	6281											
NTNG1	22854	broad.mit.edu	37	chr1	108023321	108023321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcccggccgcatacacGggcatcctctgcgagaagct	12	15	1	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:108023321G>A	ENST00000370067.1	+	7	1869	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	NTNG1_ENST00000370066.1_Silent_p.T434T|NTNG1_ENST00000370073.2_Silent_p.T493T|NTNG1_ENST00000370061.3_Silent_p.T459T|NTNG1_ENST00000370070.2_Silent_p.T414T|NTNG1_ENST00000542803.1_Silent_p.T493T|NTNG1_ENST00000370068.1_Silent_p.T493T|NTNG1_ENST00000370072.3_Silent_p.T448T|NTNG1_ENST00000370071.2_Silent_p.T434T|NTNG1_ENST00000370065.1_Silent_p.T448T|NTNG1_ENST00000370074.4_Silent_p.T392T			Q9Y2I2	NTNG1_HUMAN	netrin G1	445	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CCGCATACACGGGCATCCTCT	0.687													False	0	True	1:108023321	0	A	108023321	G	A	108023321	2	1	76	1	0	0	0	0	0	0	0	1	10772	1103	39	1		1	NTNG1	1	108023321	Silent	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	4570086	108023321	141227300	6	6282											
PI4KB	5298	broad.mit.edu	37	chr1	151288137	151288137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggcatctgacttagagCgctggtgagtccttttggag	14	8	1	3			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:151288137C>T	ENST00000368875.2	-	3	1437	c.857G>A	c.(856-858)cGc>cAc	p.R286H	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368873.1_Missense_Mutation_p.R274H|PI4KB_ENST00000271657.5_Missense_Mutation_p.R286H|PI4KB_ENST00000368872.1_Missense_Mutation_p.R274H|PI4KB_ENST00000368874.4_Missense_Mutation_p.R274H	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	274					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGACTTAGAGCGCTGGTGAGT	0.547													False	0	False	1:151288137	0	T	151288137	C	T	151288137	3	4	76	1	0	0	0	0	1	0	0	0	11943	768	27	1	1673	1	PI4KB	1	151288137	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	43264816	151288137	97962484	7	6283											
RORC	0	broad.mit.edu	37	chr1	151789160	151789160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctcgggacatgcccagcGccaggcatttctgcaggcgg	13	14	2	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:151789160G>A	ENST00000356728.6	-	3	369	c.215C>T	c.(214-216)gCg>gTg	p.A72V	RORC_ENST00000392697.3_Missense_Mutation_p.A147V|RORC_ENST00000318247.6_Missense_Mutation_p.A93V	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	93					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CATGCCCAGCGCCAGGCATTT	0.647													False	0	False	1:151789160	0	A	151789160	G	A	151789160	3	1	76	1	0	0	0	0	1	0	0	0	13609	1087	38	1	1310	1	RORC	1	151789160	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	501023	151789160	97461461	8	6284											
F5	2153	broad.mit.edu	37	chr1	169528443	169528443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtacattagggatgatgaCtggctccagctcttgctttc	11	9	1	2			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:169528443C>A	ENST00000367796.3	-	5	879	c.678G>T	c.(676-678)caG>caT	p.Q226H	F5_ENST00000367797.3_Missense_Mutation_p.Q226H|F5_ENST00000546081.1_Missense_Mutation_p.Q89H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	226	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGGATGATGACTGGCTCCAGC	0.433													False	0	False	1:169528443	0	A	169528443	C	A	169528443	3	1	76	1	0	0	0	0	1	0	0	0	5381	564	20	3	6080	3	F5	1	169528443	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	17739283	169528443	79722178	9	6285											
RYR2	6262	broad.mit.edu	37	chr1	237632473	237632473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcagcagattggaaagacTggaagcttcttcaggtatgt	12	6	3	2			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:237632473T>C	ENST00000366574.2	+	17	2011	c.1694T>C	c.(1693-1695)cTg>cCg	p.L565P	RYR2_ENST00000542537.1_Missense_Mutation_p.L549P|RYR2_ENST00000360064.6_Missense_Mutation_p.L563P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	565					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGGAAAGACTGGAAGCTTCT	0.358													False	0	False	1:237632473	0	C	237632473	T	C	237632473	3	2	76	1	0	0	0	0	1	0	0	0	13848	1580	55	4	1760	4	RYR2	1	237632473	Missense_Mutation	SNP	T	TCGA-HZ-A4BK-01A-11D-A26I-08	68104030	237632473	11618148	10	6286											
OR2G3	81469	broad.mit.edu	37	chr1	247769183	247769183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttacggtggttgtgtggCgcaactctatatttctctgg	11	9	2	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:247769183C>T	ENST00000320002.2	+	1	328	c.296C>T	c.(295-297)gCg>gTg	p.A99V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A99G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGTTGTGTGGCGCAACTCTAT	0.483													False	0	False	1:247769183	0	T	247769183	C	T	247769183	3	4	76	1	0	0	0	0	1	0	0	0	11067	768	27	1	298	1	OR2G3	1	247769183	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	10136710	247769183	1481438	11	6287											
DYSF	8291	broad.mit.edu	37	chr2	71896785	71896785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagacagacgtgcattatcGttccctgggaggtgaaggca	13	8	0	3	rs143939123		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr2:71896785G>A	ENST00000258104.3	+	50	5853	c.5576G>A	c.(5575-5577)cGt>cAt	p.R1859H	DYSF_ENST00000410020.3_Missense_Mutation_p.R1898H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1880H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.R1891H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1877H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1890H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1881H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1867H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1860H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1897H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1876H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1859						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.R1859H(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTGCATTATCGTTCCCTGGGA	0.438													False	0	False	2:71896785	0	A	71896785	G	A	71896785	3	1	76	1	0	0	0	0	1	0	0	0	4889	1145	40	1	6033	1	DYSF	2	71896785	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08		71896785	171302588	12	6288											
ZDBF2	57683	broad.mit.edu	37	chr2	207170979	207170979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggttgataactatggatCgagttgttctgaaacaagtt	10	5	1	2			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr2:207170979C>T	ENST00000374423.3	+	5	2113	c.1727C>T	c.(1726-1728)tCg>tTg	p.S576L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	576							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACTATGGATCGAGTTGTTCT	0.438													False	0	False	2:207170979	0	T	207170979	C	T	207170979	3	4	76	1	0	0	0	0	1	0	0	0	17682	893	31	1	1737	1	ZDBF2	2	207170979	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	135274194	207170979	36028394	13	6289											
CSRNP1	64651	broad.mit.edu	37	chr3	39185116	39185117	+	Frame_Shift_Del	DEL	AG	AG	-													tcctcctccccaccgaagtcAgagtcactgaaactcaagat							TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:39185116_39185117delAG	ENST00000273153.5	-	5	1376_1377	c.1199_1200delCT	c.(1198-1200)tctfs	p.S400fs	CSRNP1_ENST00000514182.1_Frame_Shift_Del_p.S400fs	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	400					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CACCGAAGTCAGAGTCACTGAA	0.604													False	2	False	3:39185116	0	-	39185117	AG	-	39185116	7	5	76	1	0	1	0	1	0	0	0	0	3988	175	7	0	573	0	CSRNP1	3	39185116	Frame_Shift_Del	DEL	AG	TCGA-HZ-A4BK-01A-11D-A26I-08		39185116	158837314	14	6290											
GNL3	26354	broad.mit.edu	37	chr3	52726994	52726994	+	Missense_Mutation	SNP	G	G	T													cgcttgctctgcgaagtccaGcaagtattgaagtagtaaaa							TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:52726994G>T	ENST00000394799.2	+	10	1150	c.940G>T	c.(940-942)Gca>Tca	p.A314S	GNL3_ENST00000418458.1_Missense_Mutation_p.A326S	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	326	G.|Intermediate (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GCGAAGTCCAGCAAGTATTGA	0.498													False	0	False	3:52726994	0	T	52726994	G	T	52726994	3	4	76	1	0	0	0	0	1	0	0	0	6582	971	34	3	1014	3	GNL3	3	52726994	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	13541878	52726994	145295436	15	6291	121	2									
GNL3	26354	broad.mit.edu	37	chr3	52726995	52726995	+	Missense_Mutation	SNP	C	C	T													gcttgctctgcgaagtccagCaagtattgaagtagtaaaac							TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:52726995C>T	ENST00000394799.2	+	10	1151	c.941C>T	c.(940-942)gCa>gTa	p.A314V	GNL3_ENST00000418458.1_Missense_Mutation_p.A326V	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	326	G.|Intermediate (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		CGAAGTCCAGCAAGTATTGAA	0.498													False	0	False	3:52726995	0	T	52726995	C	T	52726995	3	4	76	1	0	0	0	0	1	0	0	0	6582	710	25	2	1015	2	GNL3	3	52726995	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	1	52726995	145295435	16	6292	121	2									
SEMA5B	54437	broad.mit.edu	37	chr3	122634365	122634365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgaggggaatcacaggatCgagctcgacacaggcaagag	15	9	1	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:122634365C>T	ENST00000195173.4	-	14	2213	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	SEMA5B_ENST00000357599.3_Missense_Mutation_p.R637Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R691Q			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	637					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		ATCACAGGATCGAGCTCGACA	0.607													False	0	False	3:122634365	0	T	122634365	C	T	122634365	3	4	76	1	0	0	0	0	1	0	0	0	14119	884	31	1	1585	1	SEMA5B	3	122634365	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	69907370	122634365	75388065	17	6293											
MYLK	4638	broad.mit.edu	37	chr3	123419117	123419119	+	In_Frame_Del	DEL	TTC	TTC	-													ttcttaacgtctttcttgagTtcttctttgctagcggattt					rs75967604		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	TTC	TTC	-	-	TTC	TTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:123419117_123419119delTTC	ENST00000360772.3	-	19	3574_3576	c.3196_3198delGAA	c.(3196-3198)gaadel	p.E1066del	MYLK_ENST00000475616.1_In_Frame_Del_p.E1066del|MYLK_ENST00000360304.3_In_Frame_Del_p.E1066del|MYLK_ENST00000359169.1_In_Frame_Del_p.E1066del|MYLK_ENST00000346322.5_In_Frame_Del_p.E997del			Q15746	MYLK_HUMAN	myosin light chain kinase	1066	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.E1066K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTTCTTGAGTTCTTCTTTGCTA	0.527													False	2	False	3:123419117	0	-	123419119	TTC	-	123419117	7	5	76	1	0	1	0	1	0	0	0	0	10123	1722	60	0	2614	0	MYLK	3	123419117	In_Frame_Del	DEL	TTC	TCGA-HZ-A4BK-01A-11D-A26I-08	784752	123419117	74603313	18	6294											
ZNF141	7700	broad.mit.edu	37	chr4	367212	367212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccacaacccttactaaacAtaagagaattcatactggag	6	10	1	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr4:367212A>G	ENST00000240499.7	+	4	1135	c.986A>G	c.(985-987)cAt>cGt	p.H329R	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	329					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CTTACTAAACATAAGAGAATT	0.373													False	0	False	4:367212	0	G	367212	A	G	367212	3	3	76	1	0	0	0	0	1	0	0	0	17813	217	8	4	1000	4	ZNF141	4	367212	Missense_Mutation	SNP	A	TCGA-HZ-A4BK-01A-11D-A26I-08		367212	190787064	19	6295											
MFAP3L	9848	broad.mit.edu	37	chr4	170926893	170926893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcaatgattacgggcaCagagcccaagaccacgttag	11	11	1	3			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr4:170926893C>T	ENST00000361618.3	-	2	443	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	MFAP3L_ENST00000506110.1_Missense_Mutation_p.V46M|MFAP3L_ENST00000393702.3_Missense_Mutation_p.V46M	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	46						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATTACGGGCACAGAGCCCAAG	0.458													False	0	False	4:170926893	0	T	170926893	C	T	170926893	3	4	76	1	0	0	0	0	1	0	0	0	9583	478	17	2	1101	2	MFAP3L	4	170926893	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	170559681	170926893	20227383	20	6296											
TARS	6897	broad.mit.edu	37	chr5	33455699	33455699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccttcaggggtgtgTctagcaatgatttctcttct	8	10	6	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:33455699T>C	ENST00000265112.3	+	6	894	c.583T>C	c.(583-585)Tct>Cct	p.S195P	TARS_ENST00000502553.1_Missense_Mutation_p.S195P|TARS_ENST00000541634.1_Missense_Mutation_p.S91P|TARS_ENST00000414361.2_Missense_Mutation_p.S74P|TARS_ENST00000455217.2_Missense_Mutation_p.S228P	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	195					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CAGGGGTGTGTCTAGCAATGA	0.348													False	0	True	5:33455699	0	C	33455699	T	C	33455699	3	2	76	1	0	0	0	0	1	0	0	0	15641	1667	58	4	605	4	TARS	5	33455699	Missense_Mutation	SNP	T	TCGA-HZ-A4BK-01A-11D-A26I-08		33455699	147459561	21	6297											
ADAMTS12	81792	broad.mit.edu	37	chr5	33549440	33549440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtggtcccggctgtccaCgcactgaatctcgcgtatct	11	15	2	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:33549440C>T	ENST00000504830.1	-	21	4509	c.4174G>A	c.(4174-4176)Gtg>Atg	p.V1392M	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V1307M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1392	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CGGCTGTCCACGCACTGAATC	0.562										HNSCC(64;0.19)			False	0	False	5:33549440	0	T	33549440	C	T	33549440	3	4	76	1	0	0	0	0	1	0	0	0	257	536	19	1	626	1	ADAMTS12	5	33549440	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	93741	33549440	147365820	22	6298											
PCDHB3	0	broad.mit.edu	37	chr5	140482020	140482020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggcggtggacggcgactCgggccagaacgcctggctgt	19	11	0	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:140482020C>T	ENST00000231130.2	+	1	1787	c.1787C>T	c.(1786-1788)tCg>tTg	p.S596L		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		596	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCGACTCGGGCCAGAAC	0.716													False	0	True	5:140482020	0	T	140482020	C	T	140482020	3	4	76	1	0	0	0	0	1	0	0	0	11611	893	31	1	1789	1	PCDHB3	5	140482020	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	106932580	140482020	40433240	23	6299											
FAT2	2196	broad.mit.edu	37	chr5	150907687	150907687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtccatcttcatcagtcGctgatacctgcggtggggta	14	10	3	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:150907687G>A	ENST00000261800.5	-	15	10046	c.10034C>T	c.(10033-10035)gCg>gTg	p.A3345V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3345	Cadherin 30.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATCAGTCGCTGATACCTG	0.532													False	0	False	5:150907687	0	A	150907687	G	A	150907687	3	1	76	1	0	0	0	0	1	0	0	0	5730	1087	38	1	3051	1	FAT2	5	150907687	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	10425667	150907687	30007573	24	6300											
FLT4	2324	broad.mit.edu	37	chr5	180039570	180039570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccgagaatgcaggtctcGccttggggtctccggaccag	14	13	2	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:180039570G>A	ENST00000261937.6	-	26	3551	c.3473C>T	c.(3472-3474)gCg>gTg	p.A1158V	FLT4_ENST00000393347.3_Missense_Mutation_p.A1158V|FLT4_ENST00000502649.1_Missense_Mutation_p.A1158V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1158	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCAGGTCTCGCCTTGGGGTC	0.642													False	0	False	5:180039570	0	A	180039570	G	A	180039570	3	1	76	1	0	0	0	0	1	0	0	0	5984	1087	38	1	646	1	FLT4	5	180039570	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	29131883	180039570	875690	25	6301											
BTN2A1	11120	broad.mit.edu	37	chr6	26458905	26458906	+	In_Frame_Ins	INS	-	-	CTTCCTCCT													cacttctcccggccagcctcINScctcctcctcctcctcctca					rs140375890	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr6:26458905_26458906insCTTCCTCCT	ENST00000429381.1	+	2	253_254	c.41_42insCTTCCTCCT	c.(40-45)tccctc>tcCTTCCTCCTcctc	p.14_15SL>SFLLL	BTN2A1_ENST00000312541.5_In_Frame_Ins_p.14_15SL>SFLLL|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000469185.1_In_Frame_Ins_p.14_15SL>SFLLL			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	14					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CGGCCAGCCTCCCTCCTCCTCC	0.584													False	0	True	6:26458905	0	CTTCCTCCT	26458906	-	CTTCCTCCT	26458905	7	5	76	1	0	1	1	0	0	0	0	0	1567	855	30	0	43	0	BTN2A1	6	26458905	In_Frame_Ins	INS	-	TCGA-HZ-A4BK-01A-11D-A26I-08		26458905	144656162	26	6302											
PACSIN1	0	broad.mit.edu	37	chr6	34498289	34498289	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagaaggagaaacagcctaAgaaggcagagggagtggcgc	16	7	0	4			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr6:34498289A>C	ENST00000538621.1	+	8	1207	c.962A>C	c.(961-963)aAg>aCg	p.K321T	PACSIN1_ENST00000374043.2_Missense_Mutation_p.K279T|PACSIN1_ENST00000244458.2_Missense_Mutation_p.K321T	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	321					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AAACAGCCTAAGAAGGCAGAG	0.632													False	0	False	6:34498289	0	C	34498289	A	C	34498289	3	2	76	1	0	0	0	0	1	0	0	0	11442	72	3	4	988	4	PACSIN1	6	34498289	Missense_Mutation	SNP	A	TCGA-HZ-A4BK-01A-11D-A26I-08	8039384	34498289	136616778	27	6303											
POM121L12	285877	broad.mit.edu	37	chr7	53103801	53103801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggatcgcgccccctgagcGtcaggagagcccctggagat	15	14	1	3			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:53103801G>A	ENST00000408890.4	+	1	453	c.437G>A	c.(436-438)cGt>cAt	p.R146H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	146								p.R146H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCCTGAGCGTCAGGAGAGC	0.711													False	0	False	7:53103801	0	A	53103801	G	A	53103801	3	1	76	1	0	0	0	0	1	0	0	0	12310	1145	40	1	439	1	POM121L12	7	53103801	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08		53103801	106034862	28	6304											
POM121	9883	broad.mit.edu	37	chr7	72413745	72413745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggtgcagccaccagctcCggctttggagccaccaccca	10	17	0	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:72413745C>T	ENST00000395270.1	+	14	3459	c.2418C>T	c.(2416-2418)tcC>tcT	p.S806S	POM121_ENST00000358357.3_Silent_p.S806S|POM121_ENST00000446813.1_Silent_p.S806S|POM121_ENST00000434423.2_Silent_p.S1071S|POM121_ENST00000257622.4_Silent_p.S806S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1071	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCACCAGCTCCGGCTTTGGAG	0.657													False	0	False	7:72413745	0	T	72413745	C	T	72413745	2	4	76	1	0	0	0	0	0	0	0	1	12308	639	23	1		1	POM121	7	72413745	Silent	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	19309944	72413745	86724918	29	6305											
ZNF3	7551	broad.mit.edu	37	chr7	99662512	99662515	+	Frame_Shift_Del	DEL	TAGT	TAGT	-													tgccagcattaccttttgcgTagttaaacagacgtgtatcc					rs144709577		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	TAGT	TAGT	-	-	TAGT	TAGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:99662512_99662515delTAGT	ENST00000413658.2	-	6	581_584	c.292_295delACTA	c.(292-297)actacgfs	p.TT98fs	ZSCAN21_ENST00000543588.1_3'UTR|ZSCAN21_ENST00000456748.2_3'UTR|ZSCAN21_ENST00000292450.4_3'UTR	NM_017715.2	NP_060185.2	P17036	ZNF3_HUMAN	zinc finger protein 3	0	KRAB.				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			ACCTTTTGCGTAGTTAAACAGACG	0.407													False	1	False	7:99662512	0	-	99662515	TAGT	-	99662512	7	5	76	1	0	1	0	1	0	0	0	0	17912	1638	57	0	104	0	ZNF3	7	99662512	Frame_Shift_Del	DEL	TAGT	TCGA-HZ-A4BK-01A-11D-A26I-08	27248767	99662512	59476151	30	6306											
ASB15	142685	broad.mit.edu	37	chr7	123254593	123254593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctgatgaagaccatcttAcaagttatgatattcagcta	6	9	2	4			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:123254593A>G	ENST00000451558.1	+	6	558	c.37A>G	c.(37-39)Aca>Gca	p.T13A	ASB15_ENST00000540573.1_Missense_Mutation_p.T13A|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.T13A|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.T13A|ASB15_ENST00000451215.1_Missense_Mutation_p.T13A			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	13					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGACCATCTTACAAGTTATGA	0.363													False	0	False	7:123254593	0	G	123254593	A	G	123254593	3	3	76	1	0	0	0	0	1	0	0	0	1023	391	14	4	39	4	ASB15	7	123254593	Missense_Mutation	SNP	A	TCGA-HZ-A4BK-01A-11D-A26I-08	23592081	123254593	35884070	31	6307											
REPIN1	29803	broad.mit.edu	37	chr7	150069256	150069256	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcacaaacccaacctgctgtCtcacagcaagattcacaagc	6	15	2	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:150069256C>G	ENST00000397281.2	+	4	1415	c.926C>G	c.(925-927)tCt>tGt	p.S309C	REPIN1_ENST00000425389.2_Missense_Mutation_p.S309C|REPIN1_ENST00000444957.1_Missense_Mutation_p.S309C|REPIN1_ENST00000540729.1_Missense_Mutation_p.S309C|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.S366C|RP4-584D14.5_ENST00000488310.1_RNA	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	309					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AACCTGCTGTCTCACAGCAAG	0.701													False	0	False	7:150069256	0	G	150069256	C	G	150069256	3	3	76	1	0	0	0	0	1	0	0	0	13306	913	32	5	1103	5	REPIN1	7	150069256	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	26814663	150069256	9069407	32	6308											
SLCO5A1	81796	broad.mit.edu	37	chr8	70617453	70617453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacaccagcactggggaCgataataacccctggggaga	11	12	0	1	rs141622109		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr8:70617453C>T	ENST00000260126.4	-	6	2141	c.1435G>A	c.(1435-1437)Gtc>Atc	p.V479I	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V424I|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.V479I	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCACTGGGGACGATAATAACC	0.413													False	0	False	8:70617453	0	T	70617453	C	T	70617453	3	4	76	1	0	0	0	0	1	0	0	0	14811	536	19	1	1131	1	SLCO5A1	8	70617453	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08		70617453	75746569	33	6309											
KCNB2	9312	broad.mit.edu	37	chr8	73480175	73480175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagcttcgagactgcaacaCacacgagagcctcctggaag	11	12	0	2			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr8:73480175C>A	ENST00000523207.1	+	2	794	c.206C>A	c.(205-207)aCa>aAa	p.T69K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	69					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GACTGCAACACACACGAGAGC	0.522													False	0	True	8:73480175	0	A	73480175	C	A	73480175	3	1	76	1	0	0	0	0	1	0	0	0	8063	478	17	3	208	3	KCNB2	8	73480175	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	2862722	73480175	72883847	34	6310											
CSMD3	114788	broad.mit.edu	37	chr8	113697836	113697836	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcaaagtcattgaaagaaaGatgtatccggctccctggat	10	8	2	3			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr8:113697836G>A	ENST00000297405.5	-	15	2525	c.2281C>T	c.(2281-2283)Ctt>Ttt	p.L761F	CSMD3_ENST00000352409.3_Missense_Mutation_p.L761F|CSMD3_ENST00000455883.2_Missense_Mutation_p.L657F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L721F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	761	CUB 4.					integral to membrane|plasma membrane		p.L721V(2)|p.L761V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAAAGAAAGATGTATCCGG	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	True	8:113697836	0	A	113697836	G	A	113697836	3	1	76	1	0	0	0	0	1	0	0	0	3971	942	33	2	9070	2	CSMD3	8	113697836	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	40217661	113697836	32666186	35	6311											
CYP11B1	0	broad.mit.edu	37	chr8	143961141	143961141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcactgtcctggggaccCgggcggctctcgtgcccagt	15	15	1	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr8:143961141C>T	ENST00000292427.4	-	1	121	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R30Q|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R30Q	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	30					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.R30Q(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCTGGGGACCCGGGCGGCTCT	0.647									Familial Hyperaldosteronism type I				False	0	True	8:143961141	0	T	143961141	C	T	143961141	3	4	76	1	0	0	0	0	1	0	0	0	4170	652	23	1	1458	1	CYP11B1	8	143961141	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	30263305	143961141	2402881	36	6312											
FRMPD1	22844	broad.mit.edu	37	chr9	37746200	37746200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccacagctgcaccaccGcacccctgtcgaggaaaagc	10	17	0	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr9:37746200G>A	ENST00000539465.1	+	16	4764	c.4171G>A	c.(4171-4173)Gca>Aca	p.A1391T	FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1391T|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1391						cytoskeleton|cytosol|plasma membrane		p.A1391T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGCACCACCGCACCCCTGTC	0.662													False	0	False	9:37746200	0	A	37746200	G	A	37746200	3	1	76	1	0	0	0	0	1	0	0	0	6099	1087	38	1	4229	1	FRMPD1	9	37746200	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08		37746200	103467231	37	6313											
FGD3	89846	broad.mit.edu	37	chr9	95773521	95773521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagctcatctccacagcCgccaaccactccaatgctgc	7	17	2	0	rs140324424	by1000genomes	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr9:95773521C>T	ENST00000375482.3	+	8	1498	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	FGD3_ENST00000337352.6_Silent_p.A334A|FGD3_ENST00000416701.2_Silent_p.A334A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	334	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.A334A(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TCTCCACAGCCGCCAACCACT	0.632													False	0	False	9:95773521	0	T	95773521	C	T	95773521	2	4	76	1	0	0	0	0	0	0	0	1	5874	639	23	1		1	FGD3	9	95773521	Silent	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	58027321	95773521	45439910	38	6314											
SVEP1	79987	broad.mit.edu	37	chr9	113261346	113261346	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacacagctgcctgaactccGacattccattttccagaagt	6	14	0	2			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr9:113261346G>A	ENST00000401783.2	-	7	1992	c.1656C>T	c.(1654-1656)gtC>gtT	p.V552V	SVEP1_ENST00000374461.1_Silent_p.V529V|SVEP1_ENST00000374469.1_Silent_p.V529V|SVEP1_ENST00000302728.8_Silent_p.V552V|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	552	Sushi 3.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGAACTCCGACATTCCATT	0.413													False	0	False	9:113261346	0	A	113261346	G	A	113261346	2	1	76	1	0	0	0	0	0	0	0	1	15502	1045	37	1		1	SVEP1	9	113261346	Silent	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	17487825	113261346	27952085	39	6315											
MKX	283078	broad.mit.edu	37	chr10	27964309	27964309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttgatctccttccaatacGtgtcatccttgcttggtcct	7	13	2	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:27964309G>A	ENST00000375790.5	-	7	1340	c.908C>T	c.(907-909)aCg>aTg	p.T303M	MKX_ENST00000419761.1_Missense_Mutation_p.T303M			Q8IYA7	MKX_HUMAN	mohawk homeobox	303					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CTTCCAATACGTGTCATCCTT	0.458													False	0	False	10:27964309	0	A	27964309	G	A	27964309	3	1	76	1	0	0	0	0	1	0	0	0	9677	1145	40	1	154	1	MKX	10	27964309	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08		27964309	107570438	40	6316											
CCDC7	221016	broad.mit.edu	37	chr10	32740612	32740612	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccaccagtaacaaatcGgcaaatgttccagcattaac	6	11	0	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:32740612G>A	ENST00000545067.1	+	2	338	c.42G>A	c.(40-42)tcG>tcA	p.S14S	CCDC7_ENST00000277657.6_Silent_p.S14S|CCDC7_ENST00000535327.1_Silent_p.S14S|CCDC7_ENST00000362006.5_Silent_p.S14S|CCDC7_ENST00000539197.1_Silent_p.S14S|CCDC7_ENST00000537047.1_Silent_p.S14S			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	14										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GTAACAAATCGGCAAATGTTC	0.323													False	0	False	10:32740612	0	A	32740612	G	A	32740612	2	1	76	1	0	0	0	0	0	0	0	1	2863	1103	39	1		1	CCDC7	10	32740612	Silent	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	4776303	32740612	102794135	41	6317											
AGAP6	414189	broad.mit.edu	37	chr10	51769519	51769519	+	Frame_Shift_Del	DEL	A	A	-													cctagccaacagcatctgggAagggagcagccaggggcaga							TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:51769519delA	ENST00000412531.3	+	8	1706	c.1634delA	c.(1633-1635)gaafs	p.E545fs	AGAP6_ENST00000374056.4_Frame_Shift_Del_p.E522fs	NM_001077665.2	NP_001071133.2	C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	545					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AGCATCTGGGAAGGGAGCAGC	0.527													False	2	True	10:51769519	0	-	51769519	A	-	51769519	7	5	76	1	0	1	0	1	0	0	0	0	372	246	9	0	1664	0	AGAP6	10	51769519	Frame_Shift_Del	DEL	A	TCGA-HZ-A4BK-01A-11D-A26I-08	19028907	51769519	83765228	42	6318											
P4HA1	5033	broad.mit.edu	37	chr10	74813157	74813157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgccttatccaggtctcCctgctgatataccgcatagc	8	13	1	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:74813157C>T	ENST00000412021.2	-	7	988	c.655G>A	c.(655-657)Gga>Aga	p.G219R	P4HA1_ENST00000263556.3_Missense_Mutation_p.G219R|P4HA1_ENST00000307116.2_Missense_Mutation_p.G219R|P4HA1_ENST00000394890.2_Missense_Mutation_p.G219R|P4HA1_ENST00000373008.2_Missense_Mutation_p.G219R|P4HA1_ENST00000440381.1_Missense_Mutation_p.G219R	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	219						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCCAGGTCTCCCTGCTGATAT	0.398													False	0	True	10:74813157	0	T	74813157	C	T	74813157	3	4	76	1	0	0	0	0	1	0	0	0	11424	632	22	2	1064	2	P4HA1	10	74813157	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	23043638	74813157	60721590	43	6319											
BMPR1A	657	broad.mit.edu	37	chr10	88659808	88659808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttttttgatggcagcattcGatggctggttttgctcattt	11	6	1	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:88659808G>A	ENST00000372037.3	+	7	992	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA						BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						GGCAGCATTCGATGGCTGGTT	0.353			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				False	0	False	10:88659808	0	A	88659808	G	A	88659808	3	1	76	1	0	0	0	0	1	0	0	0	1474	1058	37	1	473	1	BMPR1A	10	88659808	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	13846651	88659808	46874939	44	6320											
MMRN2	79812	broad.mit.edu	37	chr10	88702455	88702455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagctcccgcgccagccCggccagggcggtggtggcgg	19	15	0	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:88702455C>T	ENST00000372027.5	-	6	2407	c.2086G>A	c.(2086-2088)Ggg>Agg	p.G696R		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2							extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGCGCCAGCCCGGCCAGGGCG	0.776													False	0	True	10:88702455	0	T	88702455	C	T	88702455	3	4	76	1	0	0	0	0	1	0	0	0	9738	652	23	1	771	1	MMRN2	10	88702455	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	42647	88702455	46832292	45	6321											
PAPSS2	9060	broad.mit.edu	37	chr10	89419767	89419767	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcaagaagcaaaagacggTaggcttccaggcgccggctt	13	10	1	2			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:89419767T>C	ENST00000361175.4	+	1	396		c.e1+2		PAPSS2_ENST00000456849.1_Splice_Site	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2						3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CAAAAGACGGTAGGCTTCCAG	0.731													False	0	False	10:89419767	0	C	89419767	T	C	89419767	5	2	76	1	0	0	0	0	0	0	1	0	11503	1652	57	4	31	4	PAPSS2	10	89419767	Splice_Site	SNP	T	TCGA-HZ-A4BK-01A-11D-A26I-08	717312	89419767	46114980	46	6322											
OR52D1	390066	broad.mit.edu	37	chr11	5510886	5510886	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcttcacctggggaagacttCaatatgaatgctgagcagaa	11	8	2	4			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:5510886C>A	ENST00000322641.5	+	1	972	c.950C>A	c.(949-951)tCa>tAa	p.S317*	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S317L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAAGACTTCAATATGAATG	0.423													False	0	False	11:5510886	0	A	5510886	C	A	5510886	4	1	76	1	0	0	0	0	0	1	0	0	11182	838	29	3	952	3	OR52D1	11	5510886	Nonsense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08		5510886	129495630	47	6323											
DCHS1	8642	broad.mit.edu	37	chr11	6650981	6650981	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	acgcaagaggacgctgtactCctgctgctggaaagtaggcg	14	10	0	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:6650981C>G	ENST00000299441.3	-	11	5368	c.4957G>C	c.(4957-4959)Gag>Cag	p.E1653Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1653	Cadherin 16.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGCTGTACTCCTGCTGCTGG	0.647													False	0	True	11:6650981	0	G	6650981	C	G	6650981	3	3	76	1	0	0	0	0	1	0	0	0	4312	864	30	5	4983	5	DCHS1	11	6650981	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	1140095	6650981	128355535	48	6324											
PRG2	5553	broad.mit.edu	37	chr11	57156526	57156526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttctcaccaggaggtagCggcaggtctggcacccaggg	15	12	2	0	rs146040085	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:57156526C>T	ENST00000311862.5	-	3	396	c.323G>A	c.(322-324)cGc>cAc	p.R108H	PRG2_ENST00000525955.1_Missense_Mutation_p.R108H|PRG2_ENST00000533605.1_Missense_Mutation_p.R108H|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.R213H	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAGGTAGCGGCAGGTCTG	0.547													False	0	False	11:57156526	0	T	57156526	C	T	57156526	3	4	76	1	0	0	0	0	1	0	0	0	12555	768	27	1	361	1	PRG2	11	57156526	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	50505545	57156526	77849990	49	6325											
BEST1	7439	broad.mit.edu	37	chr11	61719315	61719315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagccaagtggctaatgccCgcttaggctccttctcccgc	9	16	1	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:61719315C>T	ENST00000378043.4	+	2	680	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	BEST1_ENST00000378042.3_5'UTR|BEST1_ENST00000449131.2_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000435278.2_Missense_Mutation_p.R13C|BEST1_ENST00000301774.9_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	13			R -> H (in VMD2).		response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GGCTAATGCCCGCTTAGGCTC	0.572													False	0	True	11:61719315	0	T	61719315	C	T	61719315	3	4	76	1	0	0	0	0	1	0	0	0	1408	652	23	1	39	1	BEST1	11	61719315	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	4562789	61719315	73287201	50	6326											
NRXN2	9379	broad.mit.edu	37	chr11	64410040	64410040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgggtgaggaagggcatgCggttgatggcgatgggcacg	21	7	0	2			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:64410040C>T	ENST00000301894.2	-	1	747	c.236G>A	c.(235-237)cGc>cAc	p.R79H	NRXN2_ENST00000377551.1_Intron|NRXN2_ENST00000265459.6_Intron|NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000377559.3_Intron	NM_138734.2	NP_620063.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	0	Laminin G-like 1.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GAAGGGCATGCGGTTGATGGC	0.726													False	0	False	11:64410040	0	T	64410040	C	T	64410040	3	4	76	1	0	0	0	0	1	0	0	0	10734	768	27	1	1792	1	NRXN2	11	64410040	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	2690725	64410040	70596476	51	6327											
DSCAML1	57453	broad.mit.edu	37	chr11	117307888	117307888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttcattgccgcagcccGcactgttgcaagccctcatg	9	15	2	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:117307888G>A	ENST00000321322.6	-	26	4851	c.4850C>T	c.(4849-4851)gCg>gTg	p.A1617V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1347V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1557					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCGCAGCCCGCACTGTTGCA	0.642													False	0	True	11:117307888	0	A	117307888	G	A	117307888	3	1	76	1	0	0	0	0	1	0	0	0	4799	1087	38	1	1523	1	DSCAML1	11	117307888	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	52897848	117307888	17698628	52	6328											
ABCC9	10060	broad.mit.edu	37	chr12	22025599	22025599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaatgtctgcatctcacCgaggatggcaaggagaagag	12	9	2	2			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:22025599C>T	ENST00000261200.4	-	16	2157	c.2158G>A	c.(2158-2160)Ggt>Agt	p.G720S	ABCC9_ENST00000261201.4_Missense_Mutation_p.G720S|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G684S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	720	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G720C(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGCATCTCACCGAGGATGGCA	0.418													False	0	False	12:22025599	0	T	22025599	C	T	22025599	3	4	76	1	0	0	0	0	1	0	0	0	59	652	23	1	2725	1	ABCC9	12	22025599	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08		22025599	111826296	53	6329											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	76	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	3372685	25398284	108453611	54	6330											
PTPRB	0	broad.mit.edu	37	chr12	70965613	70965613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccacttacttgttctccCattcccttgttcattggctt	5	13	2	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:70965613C>T	ENST00000334414.6	-	12	3141	c.3097G>A	c.(3097-3099)Ggg>Agg	p.G1033R	PTPRB_ENST00000550358.1_Missense_Mutation_p.G945R|PTPRB_ENST00000550857.1_Missense_Mutation_p.G725R|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1032R|PTPRB_ENST00000451516.2_Missense_Mutation_p.G725R|PTPRB_ENST00000261266.5_Missense_Mutation_p.G815R|PTPRB_ENST00000538708.1_Missense_Mutation_p.G815R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	815	Fibronectin type-III 12.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTGTTCTCCCATTCCCTTGT	0.378													False	0	True	12:70965613	0	T	70965613	C	T	70965613	3	4	76	1	0	0	0	0	1	0	0	0	12875	594	21	2	3642	2	PTPRB	12	70965613	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	45567329	70965613	62886282	55	6331											
RIMBP2	23504	broad.mit.edu	37	chr12	130935797	130935797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaggaaggtgggcttggcGgacagaggctccggcctgtc	18	10	0	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:130935797G>A	ENST00000261655.4	-	5	559	c.396C>T	c.(394-396)tcC>tcT	p.S132S	RIMBP2_ENST00000536002.1_Silent_p.S40S|RIMBP2_ENST00000535703.1_Silent_p.S40S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	132						cell junction|synapse		p.S132S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGGCTTGGCGGACAGAGGCT	0.642													False	0	False	12:130935797	0	A	130935797	G	A	130935797	2	1	76	1	0	0	0	0	0	0	0	1	13442	1103	39	1		1	RIMBP2	12	130935797	Silent	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	59970184	130935797	2916098	56	6332											
MYH7	4625	broad.mit.edu	37	chr14	23898246	23898246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccagggtggcattgatgCgcgtcaccatccagttgaac	11	12	2	2			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr14:23898246C>T	ENST00000355349.3	-	14	1487	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	442	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCATTGATGCGCGTCACCAT	0.557													False	0	False	14:23898246	0	T	23898246	C	T	23898246	3	4	76	1	0	0	0	0	1	0	0	0	10106	768	27	1	4590	1	MYH7	14	23898246	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08		23898246	83451294	57	6333											
GFER	2671	broad.mit.edu	37	chr16	2034871	2034871	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaccccagaacagcagcaaGacatggcccagttcatacat	7	15	1	2			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr16:2034871G>T	ENST00000248114.6	+	2	388	c.382G>T	c.(382-384)Gac>Tac	p.D128Y	GFER_ENST00000569451.1_Intron|GFER_ENST00000567719.1_Missense_Mutation_p.D53Y	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	128	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity			endometrium(1)|large_intestine(1)|lung(3)	5						ACAGCAGCAAGACATGGCCCA	0.567													False	0	False	16:2034871	0	T	2034871	G	T	2034871	3	4	76	1	0	0	0	0	1	0	0	0	6383	942	33	3	388	3	GFER	16	2034871	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08		2034871	88319882	58	6334											
CHST4	10164	broad.mit.edu	37	chr16	71570744	71570744	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcttcctggcgctctggctCttcttttgtggggcagcttt	12	11	4	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr16:71570744C>T	ENST00000338482.5	+	3	507	c.164C>T	c.(163-165)tCt>tTt	p.S55F	CHST4_ENST00000572450.1_Missense_Mutation_p.S55F|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.S55F			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	55					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CGCTCTGGCTCTTCTTTTGTG	0.567													False	0	False	16:71570744	0	T	71570744	C	T	71570744	3	4	76	1	0	0	0	0	1	0	0	0	3429	913	32	2	166	2	CHST4	16	71570744	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	69535873	71570744	18784009	59	6335											
TP53	7157	broad.mit.edu	37	chr17	7578479	7578479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgcgggtgccgggcggggGtgtggaatcaacccacagct	18	11	1	0	rs28934874		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:7578479G>T	ENST00000420246.2	-	5	583	c.451C>A	c.(451-453)Ccc>Acc	p.P151T	TP53_ENST00000455263.2_Missense_Mutation_p.P151T|TP53_ENST00000269305.4_Missense_Mutation_p.P151T|TP53_ENST00000359597.4_Missense_Mutation_p.P151T|TP53_ENST00000413465.2_Missense_Mutation_p.P151T|TP53_ENST00000445888.2_Missense_Mutation_p.P151T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGGCGGGGGTGTGGAATCA	0.612		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)			False	0	True	17:7578479	0	T	7578479	G	T	7578479	3	4	76	1	0	0	0	0	1	0	0	0	16464	1261	44	3	847	3	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08		7578479	73616731	60	6336											
KRT37	8688	broad.mit.edu	37	chr17	39577780	39577780	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctaatgaggctctgcatctgGgccagctctgtgccgtagcg	13	12	3	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:39577780G>C	ENST00000225550.3	-	6	1079	c.1080C>G	c.(1078-1080)gcC>gcG	p.A360A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	360	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TCTGCATCTGGGCCAGCTCTG	0.572													False	0	True	17:39577780	0	C	39577780	G	C	39577780	2	2	76	1	0	0	0	0	0	0	0	1	8524	1219	43	5		5	KRT37	17	39577780	Silent	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	31999301	39577780	41617430	61	6337											
DHX8	1659	broad.mit.edu	37	chr17	41566830	41566830	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgcagctgaatttgtgatCagtcttgctgagaaaaatac	9	6	2	3			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:41566830C>T	ENST00000262415.3	+	2	234	c.162C>T	c.(160-162)atC>atT	p.I54I	DHX8_ENST00000540306.1_Silent_p.I54I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	54						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AATTTGTGATCAGTCTTGCTG	0.333													False	0	False	17:41566830	0	T	41566830	C	T	41566830	2	4	76	1	0	0	0	0	0	0	0	1	4545	816	29	2		2	DHX8	17	41566830	Silent	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	1989050	41566830	39628380	62	6338											
PLEKHM1	9842	broad.mit.edu	37	chr17	43531559	43531559	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcggggagagctcgcagaaGagctccttccagatgcccat	13	12	0	4			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:43531559G>C	ENST00000430334.3	-	7	1792	c.1659C>G	c.(1657-1659)ctC>ctG	p.L553L	PLEKHM1_ENST00000421073.2_Silent_p.L464L|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	553	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GCTCGCAGAAGAGCTCCTTCC	0.627													False	0	False	17:43531559	0	C	43531559	G	C	43531559	2	2	76	1	0	0	0	0	0	0	0	1	12149	929	33	5		5	PLEKHM1	17	43531559	Silent	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	1964729	43531559	37663651	63	6339											
ZSWIM4	65249	broad.mit.edu	37	chr19	13915898	13915898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccatcacactgaggtgctGcccactgctcagcgcttggc	11	16	2	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:13915898G>A	ENST00000254323.2	+	3	837	c.648G>A	c.(646-648)ctG>ctA	p.L216L	ZSWIM4_ENST00000440752.2_5'UTR	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	216							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTGAGGTGCTGCCCACTGCTC	0.622											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:13915898	0	A	13915898	G	A	13915898	2	1	76	1	0	0	0	0	0	0	0	1	18325	1306	46	2		2	ZSWIM4	19	13915898	Silent	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08		13915898	45213085	64	6340											
PKN1	5585	broad.mit.edu	37	chr19	14581423	14581423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgatgaggaggaggtcttcGacagcatcgtcaacgacgag	14	8	2	2			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:14581423G>A	ENST00000242783.6	+	20	2638	c.2473G>A	c.(2473-2475)Gac>Aac	p.D825N	PKN1_ENST00000342216.4_Missense_Mutation_p.D831N	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	825	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGAGGTCTTCGACAGCATCGT	0.672													False	0	False	19:14581423	0	A	14581423	G	A	14581423	3	1	76	1	0	0	0	0	1	0	0	0	12048	1058	37	1	2594	1	PKN1	19	14581423	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	665525	14581423	44547560	65	6341											
ZNF681	148213	broad.mit.edu	37	chr19	23927097	23927097	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttcacactggtagggtttttCtccagtatgaatgctcttat	8	8	3	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:23927097C>G	ENST00000402377.3	-	4	1396	c.1255G>C	c.(1255-1257)Gaa>Caa	p.E419Q	ZNF681_ENST00000395385.3_Missense_Mutation_p.E350Q	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TAGGGTTTTTCTCCAGTATGA	0.368													False	0	True	19:23927097	0	G	23927097	C	G	23927097	3	3	76	1	0	0	0	0	1	0	0	0	18171	922	32	5	686	5	ZNF681	19	23927097	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	9345674	23927097	35201886	66	6342											
PSG7	5676	broad.mit.edu	37	chr19	43430713	43430713	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatcctgttttcaatgcGtcgctttaccctgggactga	11	10	1	1			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:43430713G>A	ENST00000446844.3	-	0	954				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493													False	0	False	19:43430713	0	A	43430713	G	A	43430713	1	1	76	0	1	0	0	0	0	0	0	0	12736	1145	40	1		1	PSG7	19	43430713	RNA	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	19503616	43430713	15698270	67	6343											
HORMAD2	150280	broad.mit.edu	37	chr22	30518022	30518024	+	In_Frame_Del	DEL	AGG	AGG	-													acacttcctgctgtttgacaAggagcctatcaacgtgcaag							TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr22:30518022_30518024delAGG	ENST00000336726.6	+	10	993_995	c.638_640delAGG	c.(637-642)aaggag>aag	p.E214del	HORMAD2_ENST00000403975.1_In_Frame_Del_p.E214del	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	214	HORMA.				meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			CTGTTTGACAAGGAGCCTATCAA	0.429													False	1	False	22:30518022	0	-	30518024	AGG	-	30518022	7	5	76	1	0	1	0	1	0	0	0	0	7334	72	3	0	672	0	HORMAD2	22	30518022	In_Frame_Del	DEL	AGG	TCGA-HZ-A4BK-01A-11D-A26I-08		30518022	20786544	68	6344											
DHRSX	207063	broad.mit.edu	37	chrX	2161133	2161133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacgtgcttgtagacgtcCgtgttgaccaccccggggtc	12	13	0	2			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:2161133C>T	ENST00000334651.5	-	6	787	c.735G>A	c.(733-735)acG>acA	p.T245T		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	245							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGTAGACGTCCGTGTTGACCA	0.617													False	0	False	X:2161133	0	T	2161133	C	T	2161133	2	4	76	1	0	0	0	0	0	0	0	1	4529	639	23	1		1	DHRSX	23	2161133	Silent	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08		2161133	153109427	69	6345											
STS	412	broad.mit.edu	37	chrX	7223159	7223159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacttcacatcggaccaggGagcacatgtagaagaagtgt	11	9	1	2			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:7223159G>A	ENST00000217961.4	+	7	1251	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	344					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TCGGACCAGGGAGCACATGTA	0.458									Ichthyosis				False	0	True	X:7223159	0	A	7223159	G	A	7223159	3	1	76	1	0	0	0	0	1	0	0	0	15414	1174	41	2	1057	2	STS	23	7223159	Missense_Mutation	SNP	G	TCGA-HZ-A4BK-01A-11D-A26I-08	5062026	7223159	148047401	70	6346											
GPM6B	2824	broad.mit.edu	37	chrX	13803924	13803924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgatgcagcattcaaagCagcctgaacccaaaggagag	10	10	1	3			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:13803924C>T	ENST00000454189.2	-	2	135	c.8G>A	c.(7-9)tGc>tAc	p.C3Y	GPM6B_ENST00000316715.4_Missense_Mutation_p.C62Y|GPM6B_ENST00000355135.2_Missense_Mutation_p.C62Y|GPM6B_ENST00000493677.1_Missense_Mutation_p.C36Y|GPM6B_ENST00000356942.5_Missense_Mutation_p.C22Y|GPM6B_ENST00000398361.3_5'UTR	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	22					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						GCATTCAAAGCAGCCTGAACC	0.527													False	0	False	X:13803924	0	T	13803924	C	T	13803924	3	4	76	1	0	0	0	0	1	0	0	0	6662	710	25	2	910	2	GPM6B	23	13803924	Missense_Mutation	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	6580765	13803924	141466636	71	6347											
ZIC3	7547	broad.mit.edu	37	chrX	136649486	136649486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacggacccctacgcggcCggcgctcagtttcctaacta	10	17	1	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:136649486C>T	ENST00000287538.5	+	1	1186	c.636C>T	c.(634-636)gcC>gcT	p.A212A	ZIC3_ENST00000370606.3_Silent_p.A212A	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	212					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CCTACGCGGCCGGCGCTCAGT	0.662													False	0	True	X:136649486	0	T	136649486	C	T	136649486	2	4	76	1	0	0	0	0	0	0	0	1	17763	639	23	1		1	ZIC3	23	136649486	Silent	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	122845562	136649486	18621074	72	6348											
SRPK3	26576	broad.mit.edu	37	chrX	153048258	153048258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggaggtgctgggccaCcagctcctcaaatggatcat	13	11	2	0			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:153048258C>T	ENST00000489426.1	+	12	3074	c.708C>T	c.(706-708)caC>caT	p.H236H	SRPK3_ENST00000370104.1_Silent_p.H169H|SRPK3_ENST00000370100.1_Silent_p.H127H|SRPK3_ENST00000370108.3_Silent_p.H169H|SRPK3_ENST00000393786.3_Silent_p.H169H|SRPK3_ENST00000370101.3_Silent_p.H169H			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	169	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGGCCACCAGCTCCTCA	0.652													False	0	False	X:153048258	0	T	153048258	C	T	153048258	2	4	76	1	0	0	0	0	0	0	0	1	15243	506	18	2		2	SRPK3	23	153048258	Silent	SNP	C	TCGA-HZ-A4BK-01A-11D-A26I-08	16398772	153048258	2222302	73	6349											
HNRNPR	10236	broad.mit.edu	37	chr1	23648137	23648137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaggtgtttaccagggCgaatttcatagctgtcacac	9	11	2	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:23648137C>T	ENST00000478691.1	-	6	663	c.392G>A	c.(391-393)cGc>cAc	p.R131H	HNRNPR_ENST00000302271.6_Missense_Mutation_p.R232H|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R232H|HNRNPR_ENST00000427764.2_Missense_Mutation_p.R194H|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R72H|HNRNPR_ENST00000374612.1_Missense_Mutation_p.R232H|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R93H	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	232	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTACCAGGGCGAATTTCATA	0.378													False	0	True	1:23648137	0	T	23648137	C	T	23648137	3	4	77	1	0	0	0	0	1	0	0	0	7319	768	27	1	1235	1	HNRNPR	1	23648137	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		23648137	225602484	1	6350											
ADAMTS4	9507	broad.mit.edu	37	chr1	161167857	161167857	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatgggaccttgaccgctGgcaggactcttccggcgtag	13	13	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:161167857G>T	ENST00000367996.5	-	1	989	c.561C>A	c.(559-561)gcC>gcA	p.A187A	ADAMTS4_ENST00000367995.3_Silent_p.A187A	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4						proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTTGACCGCTGGCAGGACTCT	0.632													False	0	False	1:161167857	0	T	161167857	G	T	161167857	2	4	77	1	0	0	0	0	0	0	0	1	268	1335	47	3		3	ADAMTS4	1	161167857	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	137519720	161167857	88082764	2	6351											
TAF5L	27097	broad.mit.edu	37	chr1	229750171	229750171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgagtccacgtactgcCggcgtttgaggtagcaggac	13	11	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:229750171C>T	ENST00000366675.3	-	2	147	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	TAF5L_ENST00000258281.2_Missense_Mutation_p.R20Q|TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000366674.1_Missense_Mutation_p.R20Q|TAF5L_ENST00000366676.1_Missense_Mutation_p.R20Q	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	20					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CACGTACTGCCGGCGTTTGAG	0.562													False	0	False	1:229750171	0	T	229750171	C	T	229750171	3	4	77	1	0	0	0	0	1	0	0	0	15611	652	23	1	1732	1	TAF5L	1	229750171	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	68582314	229750171	19500450	3	6352											
TRIM58	25893	broad.mit.edu	37	chr1	248023988	248023988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgactcaggaggccaacGtggggaaaaagactgtcatt	12	9	2	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:248023988G>A	ENST00000366481.3	+	2	538	c.490G>A	c.(490-492)Gtg>Atg	p.V164M		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	164						intracellular	zinc ion binding	p.V164L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAGGCCAACGTGGGGAAAAA	0.478													False	0	False	1:248023988	0	A	248023988	G	A	248023988	3	1	77	1	0	0	0	0	1	0	0	0	16614	1145	40	1	496	1	TRIM58	1	248023988	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	18273817	248023988	1226633	4	6353											
LYG1	129530	broad.mit.edu	37	chr2	99907775	99907775	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctggacaagacaccagcGatcacggcaggatccatgca	10	13	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:99907775G>A	ENST00000409448.1	-	6	574	c.258C>T	c.(256-258)atC>atT	p.I86I	LYG1_ENST00000308528.4_Silent_p.I86I			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	86					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGACACCAGCGATCACGGCAG	0.488													False	0	False	2:99907775	0	A	99907775	G	A	99907775	2	1	77	1	0	0	0	0	0	0	0	1	9167	1048	37	1		1	LYG1	2	99907775	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		99907775	143291598	5	6354											
ANAPC1	64682	broad.mit.edu	37	chr2	112614257	112614258	+	Splice_Site	INS	-	-	T													ccagcatggtgtctattttcINStaaaaaaacaaaaaagacaa					rs4067742		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:112614257_112614258insT	ENST00000341068.3	-	13	2222		c.e13-1			NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361													False	1	True	2:112614257	0	T	112614258	-	T	112614257	8	5	77	1	0	1	1	0	0	0	1	0	598	927	32	0	4529	0	ANAPC1	2	112614257	Splice_Site	INS	-	TCGA-HZ-A77O-01A-11D-A33T-08	12706482	112614257	130585116	6	6355											
DHRS9	10170	broad.mit.edu	37	chr2	169940070	169940070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatactccatccaaatatgCagtggaaggtttcaatgaca	7	9	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:169940070C>T	ENST00000327239.4	+	6	2049	c.545C>T	c.(544-546)gCa>gTa	p.A182V	DHRS9_ENST00000602501.1_Missense_Mutation_p.A182V|DHRS9_ENST00000357546.2_Missense_Mutation_p.A182V|DHRS9_ENST00000421653.1_Missense_Mutation_p.A35V|DHRS9_ENST00000428522.1_Missense_Mutation_p.A182V|DHRS9_ENST00000432060.2_Missense_Mutation_p.A242V|DHRS9_ENST00000412271.1_Missense_Mutation_p.A182V|DHRS9_ENST00000436483.2_Missense_Mutation_p.A182V	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	182					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TCCAAATATGCAGTGGAAGGT	0.403													False	0	False	2:169940070	0	T	169940070	C	T	169940070	3	4	77	1	0	0	0	0	1	0	0	0	4528	710	25	2	551	2	DHRS9	2	169940070	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	57325813	169940070	73259303	7	6356											
PASK	23178	broad.mit.edu	37	chr2	242066535	242066535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccccccgccagctgacCcttggcctggggcttggcca	13	18	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:242066535C>T	ENST00000403638.3	-	10	1886	c.1795G>A	c.(1795-1797)Ggt>Agt	p.G599S	PASK_ENST00000234040.4_Missense_Mutation_p.G599S|PASK_ENST00000358649.4_Missense_Mutation_p.G599S|PASK_ENST00000544142.1_Missense_Mutation_p.G413S|PASK_ENST00000405260.1_Missense_Mutation_p.G599S|PASK_ENST00000539818.1_Missense_Mutation_p.G383S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	599					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCCAGCTGACCCTTGGCCTGG	0.667													False	0	True	2:242066535	0	T	242066535	C	T	242066535	3	4	77	1	0	0	0	0	1	0	0	0	11540	623	22	2	2212	2	PASK	2	242066535	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	72126465	242066535	1132838	8	6357											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	11	14	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572													False	0	True	3:129370592	0	A	129370592	T	A	129370592	3	1	77	1	0	0	0	0	1	0	0	0	16074	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08		129370592	68651838	9	6358											
SLC2A2	6514	broad.mit.edu	37	chr3	170723136	170723136	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccactagaataggctgtcGgtagctggaattggtgaaga	14	6	0	3	rs121909743		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:170723136G>A	ENST00000314251.3	-	7	980	c.901C>T	c.(901-903)Cga>Tga	p.R301*	SLC2A2_ENST00000382808.4_Nonsense_Mutation_p.R182*	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	301					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	p.R301*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATAGGCTGTCGGTAGCTGGAA	0.418													False	0	False	3:170723136	0	A	170723136	G	A	170723136	4	1	77	1	0	0	0	0	0	1	0	0	14624	1124	39	1	693	1	SLC2A2	3	170723136	Nonsense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	41352544	170723136	27299294	10	6359											
SH3TC1	54436	broad.mit.edu	37	chr4	8218705	8218705	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcccttctttgtcctgtgtcCtgaccaccatgtgagagtga	10	12	1	3			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:8218705C>G	ENST00000539824.1	+	7	796	c.422C>G	c.(421-423)cCt>cGt	p.P141R	SH3TC1_ENST00000245105.3_Missense_Mutation_p.P217R			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	217							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GTCCTGTGTCCTGACCACCAT	0.682													False	0	False	4:8218705	0	G	8218705	C	G	8218705	3	3	77	1	0	0	0	0	1	0	0	0	14342	681	24	5	672	5	SH3TC1	4	8218705	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		8218705	182935571	11	6360											
SCD5	79966	broad.mit.edu	37	chr4	83601872	83601872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttactttctctggatcCggaccacaggatcagcaagc	8	13	3	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:83601872C>T	ENST00000319540.4	-	3	876	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	SCD5_ENST00000273908.4_Missense_Mutation_p.R186Q	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	186					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TCTCTGGATCCGGACCACAGG	0.512													False	0	False	4:83601872	0	T	83601872	C	T	83601872	3	4	77	1	0	0	0	0	1	0	0	0	13967	652	23	1	653	1	SCD5	4	83601872	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	75383167	83601872	107552404	12	6361											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	77	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-HZ-A77O-01A-11D-A33T-08		78610444	102304816	13	6362											
GDF9	2661	broad.mit.edu	37	chr5	132199861	132199861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggagcctgcttgtgcCgggtacagggggtgaagagc	17	10	0	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr5:132199861C>T	ENST00000378673.2	-	2	1231	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	GDF9_ENST00000296875.2_Missense_Mutation_p.R122Q|GDF9_ENST00000464378.1_5'UTR			O60383	GDF9_HUMAN	growth differentiation factor 9	122					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCTTGTGCCGGGTACAGGG	0.463													False	0	True	5:132199861	0	T	132199861	C	T	132199861	3	4	77	1	0	0	0	0	1	0	0	0	6364	652	23	1	1007	1	GDF9	5	132199861	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	53589417	132199861	48715399	14	6363											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	77	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-HZ-A77O-01A-11D-A33T-08		7393450	163721617	15	6364											
EHMT2	10919	broad.mit.edu	37	chr6	31851582	31851582	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccccgggccccctactcaCctgcaggtgggtgatgttgc	14	15	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:31851582C>A	ENST00000395728.3	-	21	3087		c.e21+1		EHMT2_ENST00000480912.1_Splice_Site|EHMT2_ENST00000375537.4_Splice_Site|EHMT2_ENST00000375530.4_Splice_Site|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Splice_Site			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2						DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CCCCTACTCACCTGCAGGTGG	0.577													False	0	False	6:31851582	0	A	31851582	C	A	31851582	5	1	77	1	0	0	0	0	0	0	1	0	5014	521	18	3	743	3	EHMT2	6	31851582	Splice_Site	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	24458132	31851582	139263485	16	6365											
GRM1	2911	broad.mit.edu	37	chr6	146351187	146351187	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaacctgctccagctcttCgacatcccccagatcgctta	6	17	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:146351187C>T	ENST00000392299.2	+	2	1004	c.534C>T	c.(532-534)ttC>ttT	p.F178F	GRM1_ENST00000492807.2_Silent_p.F178F|GRM1_ENST00000355289.4_Silent_p.F178F|GRM1_ENST00000507907.1_Silent_p.F178F|GRM1_ENST00000282753.1_Silent_p.F178F|GRM1_ENST00000361719.2_Silent_p.F178F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	178					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCAGCTCTTCGACATCCCCC	0.542													False	0	False	6:146351187	0	T	146351187	C	T	146351187	2	4	77	1	0	0	0	0	0	0	0	1	6843	883	31	1		1	GRM1	6	146351187	Silent	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	114499605	146351187	24763880	17	6366											
SAMD9	54809	broad.mit.edu	37	chr7	92732859	92732859	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagttgctgtattacggcaAtactgtctgggatccttgca	11	8	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:92732859A>G	ENST00000379958.2	-	3	2821	c.2552T>C	c.(2551-2553)aTt>aCt	p.I851T		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	851						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTACGGCAATACTGTCTGG	0.343													False	0	False	7:92732859	0	G	92732859	A	G	92732859	3	3	77	1	0	0	0	0	1	0	0	0	13905	101	4	4	2221	4	SAMD9	7	92732859	Missense_Mutation	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08		92732859	66405804	18	6367											
IRF5	3663	broad.mit.edu	37	chr7	128588348	128588348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggaagaatggcctgaccGcaaaccccgagagaagaagc	14	10	0	4			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:128588348G>A	ENST00000402030.2	+	8	1289	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	IRF5_ENST00000249375.4_Missense_Mutation_p.R406H|IRF5_ENST00000477535.1_Missense_Mutation_p.R320H|IRF5_ENST00000473745.1_Missense_Mutation_p.R406H|IRF5_ENST00000357234.5_Missense_Mutation_p.R422H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	406					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGGCCTGACCGCAAACCCCGA	0.527													False	0	False	7:128588348	0	A	128588348	G	A	128588348	3	1	77	1	0	0	0	0	1	0	0	0	7883	1087	38	1	1291	1	IRF5	7	128588348	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	35855489	128588348	30550315	19	6368											
SLC7A2	6542	broad.mit.edu	37	chr8	17412559	17412559	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtaagaggcagtcaccagTtgctgccacgttgactgcag	13	10	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:17412559T>G	ENST00000470360.1	+	9	1397	c.1280T>G	c.(1279-1281)gTt>gGt	p.V427G	SLC7A2_ENST00000398090.3_Missense_Mutation_p.V427G|SLC7A2_ENST00000004531.10_Intron|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000522656.1_Intron			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	388					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGTCACCAGTTGCTGCCACG	0.458													False	0	False	8:17412559	0	G	17412559	T	G	17412559	3	3	77	1	0	0	0	0	1	0	0	0	14777	1725	60	4	1450	4	SLC7A2	8	17412559	Missense_Mutation	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08		17412559	128951463	20	6369											
COL22A1	169044	broad.mit.edu	37	chr8	139767411	139767411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaacttacccgagctcctgGaggaccgggggcgccttggt	14	13	0	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:139767411G>A	ENST00000303045.6	-	21	2466	c.2020C>T	c.(2020-2022)Cca>Tca	p.P674S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P674S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	674	Collagen-like 4.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CGAGCTCCTGGAGGACCGGGG	0.567										HNSCC(7;0.00092)			False	0	False	8:139767411	0	A	139767411	G	A	139767411	3	1	77	1	0	0	0	0	1	0	0	0	3704	1174	41	2	3040	2	COL22A1	8	139767411	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	122354852	139767411	6596611	21	6370											
EPPK1	83481	broad.mit.edu	37	chr8	144946416	144946416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcgtctacccacagccGctggcctgtgatggggtcca	12	15	1	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:144946416G>A	ENST00000525985.1	-	2	1077	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W				P58107	EPIPL_HUMAN	epiplakin 1	336						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCACAGCCGCTGGCCTGTG	0.701													False	0	False	8:144946416	0	A	144946416	G	A	144946416	3	1	77	1	0	0	0	0	1	0	0	0	5222	1086	38	1	6260	1	EPPK1	8	144946416	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	5179005	144946416	1417606	22	6371											
CDKN2A	1029	broad.mit.edu	37	chr9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcccgggcagcgtcgtGcacgggtcgggtgagagtgg	19	12	0	1	rs121913385		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:21971111G>A	ENST00000579755.1	-	2	582	c.290C>T	c.(289-291)gCa>gTa	p.A97V	CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	False	9:21971111	0	A	21971111	G	A	21971111	3	1	77	1	0	0	0	0	1	0	0	0	3184	1319	46	2	231	2	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		21971111	119242320	23	6372											
SUSD1	64420	broad.mit.edu	37	chr9	114911537	114911537	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagtacctgtacaaaaggtGccatcgttgggaatgaatgt	12	6	0	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:114911537G>T	ENST00000374270.3	-	3	532	c.360C>A	c.(358-360)ggC>ggA	p.G120G	SUSD1_ENST00000374263.3_Silent_p.G120G|SUSD1_ENST00000374264.2_Silent_p.G120G	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	120						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TACAAAAGGTGCCATCGTTGG	0.468													False	0	False	9:114911537	0	T	114911537	G	T	114911537	2	4	77	1	0	0	0	0	0	0	0	1	15489	1306	46	3		3	SUSD1	9	114911537	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	92940426	114911537	26301894	24	6373											
FBXO18	84893	broad.mit.edu	37	chr10	5956233	5956233	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaattatggcctttgccgGtaagggagcccacatcaggt	12	9	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:5956233G>A	ENST00000379999.5	+	9	1653		c.e9+1		FBXO18_ENST00000397269.3_Splice_Site|FBXO18_ENST00000362091.4_Splice_Site	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCCTTTGCCGGTAAGGGAGCC	0.488													False	0	False	10:5956233	0	A	5956233	G	A	5956233	5	1	77	1	0	0	0	0	0	0	1	0	5771	1275	44	2	1589	2	FBXO18	10	5956233	Splice_Site	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		5956233	129578514	25	6374											
AGAP6	414189	broad.mit.edu	37	chr10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttgtagaaataagaagaaGcaactgtacaaaccatgtaa	8	5	0	3			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269													False	0	True	10:51754173	0	T	51754173	G	T	51754173	3	4	77	1	0	0	0	0	1	0	0	0	372	971	34	3	394	3	AGAP6	10	51754173	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	45797940	51754173	83780574	26	6375											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	77	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		25398284	108453611	27	6376											
MLXIP	22877	broad.mit.edu	37	chr12	122623025	122623025	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtacatcaccaagctgcagCaggagagaggccagatgcag	13	10	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:122623025C>A	ENST00000319080.7	+	14	2443	c.2311C>A	c.(2311-2313)Cag>Aag	p.Q771K	MLXIP_ENST00000538698.1_Missense_Mutation_p.Q378K			Q9HAP2	MLXIP_HUMAN	MLX interacting protein		Leucine-zipper.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CAAGCTGCAGCAGGAGAGAGG	0.627													False	0	False	12:122623025	0	A	122623025	C	A	122623025	3	1	77	1	0	0	0	0	1	0	0	0	9703	711	25	3	2365	3	MLXIP	12	122623025	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	97224741	122623025	11228870	28	6377											
TP53	7157	broad.mit.edu	37	chr17	7578550	7578550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatcttgttgagggcagggGagtactgtaggaagaggaag	17	4	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:7578550G>A	ENST00000420246.2	-	5	512	c.380C>T	c.(379-381)tCc>tTc	p.S127F	TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000269305.4_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGGCAGGGGAGTACTGTAG	0.552		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)			False	0	True	17:7578550	0	A	7578550	G	A	7578550	3	1	77	1	0	0	0	0	1	0	0	0	16464	1174	41	2	918	2	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		7578550	73616660	29	6378											
FOXN1	8456	broad.mit.edu	37	chr17	26851719	26851719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttggctttgaggaggccGcagcaagcagccctgggcga	16	11	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:26851719G>A	ENST00000226247.2	+	2	351	c.322G>A	c.(322-324)Gca>Aca	p.A108T	FOXN1_ENST00000579795.1_Missense_Mutation_p.A108T	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	108					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGAGGAGGCCGCAGCAAGCAG	0.667													False	0	False	17:26851719	0	A	26851719	G	A	26851719	3	1	77	1	0	0	0	0	1	0	0	0	6061	1087	38	1	328	1	FOXN1	17	26851719	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	19273169	26851719	54343491	30	6379											
EVI2A	2123	broad.mit.edu	37	chr17	29646024	29646024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgtgtgttccatgtccGtgggcatgcttggcaatctg	13	10	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:29646024G>A	ENST00000247270.3	-	3	413	c.77C>T	c.(76-78)aCg>aTg	p.T26M	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.T3M|EVI2A_ENST00000461237.1_Missense_Mutation_p.T3M	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	3						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTCCATGTCCGTGGGCATGCT	0.383													False	0	False	17:29646024	0	A	29646024	G	A	29646024	3	1	77	1	0	0	0	0	1	0	0	0	5319	1145	40	1	706	1	EVI2A	17	29646024	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	2794305	29646024	51549186	31	6380											
KRT13	3860	broad.mit.edu	37	chr17	39661661	39661661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaaaccacagctcacgcCgcctccatagcccccagctg	6	20	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:39661661C>T	ENST00000246635.3	-	1	188	c.142G>A	c.(142-144)Ggc>Agc	p.G48S	KRT13_ENST00000336861.3_Missense_Mutation_p.G48S|KRT13_ENST00000587544.1_Missense_Mutation_p.G48S	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	48	Gly-rich.|Head.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				cAGCTCACGCCGCCTCCATAG	0.622													False	0	False	17:39661661	0	T	39661661	C	T	39661661	3	4	77	1	0	0	0	0	1	0	0	0	8500	652	23	1	1266	1	KRT13	17	39661661	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	10015637	39661661	41533549	32	6381											
SEC14L1	6397	broad.mit.edu	37	chr17	75202351	75202351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttggaagggctgaacatgCgccacttgtggagacctggt	14	9	0	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:75202351C>T	ENST00000413679.2	+	12	1513	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	SEC14L1_ENST00000430767.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000392476.2_Missense_Mutation_p.R404C|SEC14L1_ENST00000436233.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000443798.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000591437.1_Missense_Mutation_p.R370C|SEC14L1_ENST00000585618.1_Missense_Mutation_p.R404C|SEC14L1_ENST00000431431.2_Missense_Mutation_p.R370C	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	404	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GCTGAACATGCGCCACTTGTG	0.567													False	0	False	17:75202351	0	T	75202351	C	T	75202351	3	4	77	1	0	0	0	0	1	0	0	0	14062	768	27	1	1248	1	SEC14L1	17	75202351	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	35540690	75202351	5992859	33	6382											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	77	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-HZ-A77O-01A-11D-A33T-08		14083667	45045316	34	6383											
MEGF8	1954	broad.mit.edu	37	chr19	42862961	42862961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcgtatgaggaatgtgcGtggctcatctcggggtctgg	16	7	3	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:42862961G>A	ENST00000334370.4	+	29	5632	c.4997G>A	c.(4996-4998)cGt>cAt	p.R1666H	MEGF8_ENST00000251268.6_Missense_Mutation_p.R1733H	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1733						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGGAATGTGCGTGGCTCATCT	0.612													False	0	False	19:42862961	0	A	42862961	G	A	42862961	3	1	77	1	0	0	0	0	1	0	0	0	9530	1145	40	1	5111	1	MEGF8	19	42862961	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	28779294	42862961	16266022	35	6384											
BBC3	27113	broad.mit.edu	37	chr19	47725042	47725042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgagtccctgacgtccacCgggcgggtgcaggcacctaa	13	16	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:47725042C>T	ENST00000449228.1	-	4	865	c.702G>A	c.(700-702)ccG>ccA	p.P234P	BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000300880.7_Silent_p.P74P|BBC3_ENST00000439096.2_3'UTR	NM_001127240.2	NP_001120712.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3	0					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding			endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		TGACGTCCACCGGGCGGGTGC	0.657													False	0	True	19:47725042	0	T	47725042	C	T	47725042	2	4	77	1	0	0	0	0	0	0	0	1	1337	639	23	1		1	BBC3	19	47725042	Silent	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	4862081	47725042	11403941	36	6385											
GLTSCR2	29997	broad.mit.edu	37	chr19	48259965	48259965	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcaaacgcaagtacaaggTgaagctggtggagaagcggg	16	6	1	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:48259965T>G	ENST00000246802.5	+	12	1432	c.1394T>G	c.(1393-1395)gTg>gGg	p.V465G	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	465				EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		AAGTACAAGGTGAAGCTGGTG	0.657													False	0	False	19:48259965	0	G	48259965	T	G	48259965	3	3	77	1	0	0	0	0	1	0	0	0	6520	1696	59	4	1440	4	GLTSCR2	19	48259965	Missense_Mutation	SNP	T	TCGA-HZ-A77O-01A-11D-A33T-08	534923	48259965	10869018	37	6386											
TOX2	84969	broad.mit.edu	37	chr20	42680013	42680013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgggcccctgctgggtcGcccggcaatgctggccagcc	15	18	0	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:42680013G>A	ENST00000358131.5	+	4	714	c.506G>A	c.(505-507)cGc>cAc	p.R169H	TOX2_ENST00000372999.1_Missense_Mutation_p.R118H|TOX2_ENST00000423191.2_Missense_Mutation_p.R118H|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Missense_Mutation_p.R160H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCTGGGTCGCCCGGCAATG	0.647													False	0	True	20:42680013	0	A	42680013	G	A	42680013	3	1	77	1	0	0	0	0	1	0	0	0	16461	1087	38	1	623	1	TOX2	20	42680013	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08		42680013	20345507	38	6387											
PREX1	57580	broad.mit.edu	37	chr20	47309258	47309258	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgacttcagtgttgattcGacccctgaagatgtagaggg	12	8	1	5			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:47309258G>A	ENST00000396220.1	-	8	1010	c.988C>T	c.(988-990)Cga>Tga	p.R330*	PREX1_ENST00000371941.3_Nonsense_Mutation_p.R330*			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	330	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GTGTTGATTCGACCCCTGAAG	0.577													False	0	False	20:47309258	0	A	47309258	G	A	47309258	4	1	77	1	0	0	0	0	0	1	0	0	12552	1066	37	1	4123	1	PREX1	20	47309258	Nonsense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	4629245	47309258	15716262	39	6388											
OGFR	11054	broad.mit.edu	37	chr20	61444809	61444809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgcaggggacgagccAgccgagagcccatcggagac	16	13	0	2			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:61444809A>G	ENST00000370461.1	+	5	3963	c.1686A>G	c.(1684-1686)ccA>ccG	p.P562P	OGFR_ENST00000290291.6_Silent_p.P614P			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	614	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGGACGAGCCAGCCGAGAGCC	0.756													False	0	True	20:61444809	0	G	61444809	A	G	61444809	2	3	77	1	0	0	0	0	0	0	0	1	10911	175	7	4		4	OGFR	20	61444809	Silent	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	14135551	61444809	1580711	40	6389											
RTN4R	65078	broad.mit.edu	37	chr22	20229361	20229361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccccgctgcctgcctggCccagacggcagtggctgcgg	14	18	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:20229361C>T	ENST00000043402.7	-	2	1733	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	432					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GCCTGCCTGGCCCAGACGGCA	0.731													False	0	True	22:20229361	0	T	20229361	C	T	20229361	3	4	77	1	0	0	0	0	1	0	0	0	13809	739	26	2	130	2	RTN4R	22	20229361	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08		20229361	31075205	41	6390											
EWSR1	2130	broad.mit.edu	37	chr22	29695624	29695624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtggccctggtggcatgCggggaggaagaggtggcctc	21	8	0	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:29695624C>T	ENST00000397938.2	+	16	2033	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	EWSR1_ENST00000406548.1_Missense_Mutation_p.R571W|EWSR1_ENST00000332050.6_Missense_Mutation_p.R499W|EWSR1_ENST00000331029.7_Missense_Mutation_p.R534W|EWSR1_ENST00000414183.2_Missense_Mutation_p.R577W|EWSR1_ENST00000332035.6_Missense_Mutation_p.R516W	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	572	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	p.R572W(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGTGGCATGCGGGGAGGAAG	0.632			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								False	0	True	22:29695624	0	T	29695624	C	T	29695624	3	4	77	1	0	0	0	0	1	0	0	0	5328	759	27	1	1893	1	EWSR1	22	29695624	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	9466263	29695624	21608942	42	6391											
SULT4A1	25830	broad.mit.edu	37	chr22	44237769	44237769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatctcatcggggtcagcGccctggctcaccaagtagac	11	15	3	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:44237769G>A	ENST00000330884.4	-	2	333	c.213C>T	c.(211-213)ggC>ggT	p.G71G	SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Silent_p.G71G	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	71					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CGGGGTCAGCGCCCTGGCTCA	0.667													False	0	True	22:44237769	0	A	44237769	G	A	44237769	2	1	77	1	0	0	0	0	0	0	0	1	15465	1074	38	1		1	SULT4A1	22	44237769	Silent	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	14542145	44237769	7066797	43	6392											
ATXN10	25814	broad.mit.edu	37	chr22	46098600	46098600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatccggacaaaaaaattGttgcctactcttcaatgatt	5	9	3	1			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:46098600G>A	ENST00000252934.5	+	5	785	c.520G>A	c.(520-522)Gtt>Att	p.V174I	ATXN10_ENST00000381061.4_Missense_Mutation_p.V110I|ATXN10_ENST00000498009.1_3'UTR	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	174					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CAAAAAAATTGTTGCCTACTC	0.323													False	0	False	22:46098600	0	A	46098600	G	A	46098600	3	1	77	1	0	0	0	0	1	0	0	0	1214	1377	48	2	538	2	ATXN10	22	46098600	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	1860831	46098600	5205966	44	6393											
DGKK	139189	broad.mit.edu	37	chrX	50213545	50213556	+	RNA	DEL	GCGGCGGAGCCG	GCGGCGGAGCCG	-													tggcgaagcctcggagagcaGcggcggagccggcggcggag							TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	GCGGCGGAGCCG	GCGGCGGAGCCG	-	-	GCGGCGGAGCCG	GCGGCGGAGCCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:50213545_50213556delGCGGCGGAGCCG	ENST00000376025.2	-	0	181_192							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGGAGAgcagcggcggagccggcggcggagc	0.693													False	1	False	X:50213545	0	-	50213556	GCGGCGGAGCCG	-	50213545	6	5	77	0	1	1	0	1	0	0	0	0	4502	962	34	0		0	DGKK	23	50213545	RNA	DEL	GCGGCGGAGCCG	TCGA-HZ-A77O-01A-11D-A33T-08		50213545	105057015	45	6394											
FAM120C	54954	broad.mit.edu	37	chrX	54099471	54099471	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccatcttcagcttatcagtCctctttccgttgtgccacag	7	14	4	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:54099471C>A	ENST00000375180.2	-	16	3342	c.3286G>T	c.(3286-3288)Gac>Tac	p.D1096Y	FAM120C_ENST00000328235.4_3'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1096										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTTATCAGTCCTCTTTCCGT	0.418													False	0	False	X:54099471	0	A	54099471	C	A	54099471	3	1	77	1	0	0	0	0	1	0	0	0	5454	855	30	3	8	3	FAM120C	23	54099471	Missense_Mutation	SNP	C	TCGA-HZ-A77O-01A-11D-A33T-08	3885926	54099471	101171089	46	6395											
DRP2	1821	broad.mit.edu	37	chrX	100506020	100506020	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaccattgctgagcaagtgAagcatcagaccaagtgctct	9	11	3	3			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:100506020A>G	ENST00000395209.3	+	16	2340	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	DRP2_ENST00000541709.1_Missense_Mutation_p.K527E|DRP2_ENST00000402866.1_Missense_Mutation_p.K605E|DRP2_ENST00000538510.1_Missense_Mutation_p.K605E	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	605					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGAGCAAGTGAAGCATCAGAC	0.502													False	0	False	X:100506020	0	G	100506020	A	G	100506020	3	3	77	1	0	0	0	0	1	0	0	0	4794	247	9	4	1867	4	DRP2	23	100506020	Missense_Mutation	SNP	A	TCGA-HZ-A77O-01A-11D-A33T-08	46406549	100506020	54764540	47	6396											
DCX	1641	broad.mit.edu	37	chrX	110644391	110644391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtaaccagcttggggcGcacaaagtccttgttctccc	11	12	1	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:110644391G>A	ENST00000338081.3	-	3	946	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	259			R -> C (in SBHX).|R -> L (in SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.R178C(1)|p.R259C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCTTGGGGCGCACAAAGTCC	0.537													False	0	False	X:110644391	0	A	110644391	G	A	110644391	3	1	77	1	0	0	0	0	1	0	0	0	4343	1087	38	1	585	1	DCX	23	110644391	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	10138371	110644391	44626169	48	6397											
OPN1LW	5956	broad.mit.edu	37	chrX	153420210	153420210	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ccaagtgtggctggccatccGagcggtaagccccccgattc	12	15	0	0			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:153420210G>C	ENST00000369951.4	+	4	800	c.740G>C	c.(739-741)cGa>cCa	p.R247P	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	247					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGCCATCCGAGCGGTAAGC	0.567													False	0	False	X:153420210	0	C	153420210	G	C	153420210	3	2	77	1	0	0	0	0	1	0	0	0	10945	1058	37	5	754	5	OPN1LW	23	153420210	Missense_Mutation	SNP	G	TCGA-HZ-A77O-01A-11D-A33T-08	42775819	153420210	1850350	49	6398											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	78	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-HZ-A77P-01A-11D-A33T-08		22987385	226263236	1	6399											
FOXD3	27022	broad.mit.edu	37	chr1	63789346	63789346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaagatcccccgcgagcCgggcaacccgggcaagggca	14	16	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:63789346C>T	ENST00000371116.2	+	1	617	c.617C>T	c.(616-618)cCg>cTg	p.P206L	RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	206					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCCGCGAGCCGGGCAACCCG	0.632													False	0	True	1:63789346	0	T	63789346	C	T	63789346	3	4	78	1	0	0	0	0	1	0	0	0	6038	652	23	1	619	1	FOXD3	1	63789346	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	40801961	63789346	185461275	2	6400											
ATP1A2	477	broad.mit.edu	37	chr1	160098814	160098814	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacgtggacggccctgtctCgaattgctggtctctgcaac	11	13	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:160098814C>T	ENST00000361216.3	+	10	1350	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.R421*	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	421					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCCCTGTCTCGAATTGCTGG	0.562													False	0	False	1:160098814	0	T	160098814	C	T	160098814	4	4	78	1	0	0	0	0	0	1	0	0	1133	876	31	1	1299	1	ATP1A2	1	160098814	Nonsense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	96309468	160098814	89151807	3	6401											
CEP350	9857	broad.mit.edu	37	chr1	179989235	179989235	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaattttgcataaggattttGaatctattttaccaaccagg	7	6	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989235G>T	ENST00000367607.3	+	12	2744	c.2326G>T	c.(2326-2328)Gaa>Taa	p.E776*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	776						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAAGGATTTTGAATCTATTTT	0.403													False	0	True	1:179989235	0	T	179989235	G	T	179989235	4	4	78	1	0	0	0	0	0	1	0	0	3277	1291	45	3	2368	3	CEP350	1	179989235	Nonsense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	19890421	179989235	69261386	4	6402			1	11		3	3	559	N	TCAGAAG_G	7.714138e-07
CEP350	9857	broad.mit.edu	37	chr1	179989588	179989594	+	Frame_Shift_Del	DEL	TCAGAAG	TCAGAAG	-													gatgttttctctgccagaatTcagaagatgctgggaagctg							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	TCAGAAG	TCAGAAG	-	-	TCAGAAG	TCAGAAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989588_179989594delTCAGAAG	ENST00000367607.3	+	12	3097_3103	c.2679_2685delTCAGAAG	c.(2677-2685)attcagaagfs	p.IQK893fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	893						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTGCCAGAATTCAGAAGATGCTGGGAA	0.425													False	1	False	1:179989588	0	-	179989594	TCAGAAG	-	179989588	7	5	78	1	0	1	0	1	0	0	0	0	3277	1771	62	0	2721	0	CEP350	1	179989588	Frame_Shift_Del	DEL	TCAGAAG	TCGA-HZ-A77P-01A-11D-A33T-08	353	179989588	69261033	5	6403			1	11		3	3	559	N	TCAGAAG_G	7.714138e-07
CEP350	9857	broad.mit.edu	37	chr1	179989793	179989793	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agactgactcttctagctctGatatgcaagcctgttctcaa	7	11	4	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989793G>C	ENST00000367607.3	+	12	3302	c.2884G>C	c.(2884-2886)Gat>Cat	p.D962H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	962						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTCTAGCTCTGATATGCAAGC	0.468													False	0	False	1:179989793	0	C	179989793	G	C	179989793	3	2	78	1	0	0	0	0	1	0	0	0	3277	1290	45	5	2926	5	CEP350	1	179989793	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	205	179989793	69260828	6	6404			1	11		3	3	559	N	TCAGAAG_G	7.714138e-07
ZNF648	127665	broad.mit.edu	37	chr1	182027016	182027016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcagcggtgccctctttttCggcctccccaccatcttcat	7	17	4	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:182027016C>T	ENST00000339948.3	-	2	337	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCCTCTTTTTCGGCCTCCCCA	0.577													False	0	True	1:182027016	0	T	182027016	C	T	182027016	3	4	78	1	0	0	0	0	1	0	0	0	18146	893	31	1	1580	1	ZNF648	1	182027016	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	2037223	182027016	67223605	7	6405											
UGP2	7360	broad.mit.edu	37	chr2	64117237	64117237	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagattatctaagaagatTtgaaagtataccagatatgc	7	5	2	5			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:64117237T>C	ENST00000337130.5	+	9	1813	c.1337T>C	c.(1336-1338)tTt>tCt	p.F446S	UGP2_ENST00000467648.2_Missense_Mutation_p.F435S|UGP2_ENST00000445915.2_Missense_Mutation_p.F455S|UGP2_ENST00000394417.2_Missense_Mutation_p.F435S	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	446					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CTAAGAAGATTTGAAAGTATA	0.303													False	0	True	2:64117237	0	C	64117237	T	C	64117237	3	2	78	1	0	0	0	0	1	0	0	0	17027	1841	64	4	1371	4	UGP2	2	64117237	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08		64117237	179082136	8	6406											
HSPE1	3336	broad.mit.edu	37	chr2	198367853	198367854	+	Splice_Site	INS	-	-	ATTATT													agtagttctagatgacaaggINStgtgtaaacttaataattct							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:198367853_198367854insATTATT	ENST00000409729.1	+	2	390		c.e2+1		HSPE1_ENST00000409468.1_In_Frame_Ins_p.87_87V>DYL|HSPE1_ENST00000233893.5_Splice_Site|MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000465573.1_Splice_Site					heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			AGATGACAAGGTGTGTAAACTT	0.342													False	0	True	2:198367853	0	ATTATT	198367854	-	ATTATT	198367853	8	5	78	1	0	1	1	0	0	0	1	0	7479	1275	44	0	269	0	HSPE1	2	198367853	Splice_Site	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08	134250616	198367853	44831520	9	6407											
SCN5A	6331	broad.mit.edu	37	chr3	38622673	38622673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgggcggcaagggctgCgggcttctgaggccgctgcc	18	14	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:38622673C>T	ENST00000413689.1	-	17	3170	c.2977G>A	c.(2977-2979)Gca>Aca	p.A993T	SCN5A_ENST00000451551.2_Missense_Mutation_p.A993T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A993T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A993T|SCN5A_ENST00000333535.4_Missense_Mutation_p.A993T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A993T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A993T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A993T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A993T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A993T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	993					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCAAGGGCTGCGGGCTTCTGA	0.692													False	0	True	3:38622673	0	T	38622673	C	T	38622673	3	4	78	1	0	0	0	0	1	0	0	0	14003	768	27	1	3121	1	SCN5A	3	38622673	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08		38622673	159399757	10	6408											
NFKBIZ	64332	broad.mit.edu	37	chr3	101574269	101574269	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggagcagtgggaagtaatCagtttgtggatcttgaggca	16	4	2	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:101574269C>A	ENST00000326172.5	+	8	1736	c.1621C>A	c.(1621-1623)Cag>Aag	p.Q541K	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.Q441K|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.Q419K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	541	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GGGAAGTAATCAGTTTGTGGA	0.413													False	0	False	3:101574269	0	A	101574269	C	A	101574269	3	1	78	1	0	0	0	0	1	0	0	0	10451	827	29	3	1651	3	NFKBIZ	3	101574269	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	62951596	101574269	96448161	11	6409											
MYH15	22989	broad.mit.edu	37	chr3	108110745	108110745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtgggcaatggtgtcttgCttcttcttcagttcttctga	10	8	6	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:108110745C>A	ENST00000273353.3	-	38	5408	c.5352G>T	c.(5350-5352)aaG>aaT	p.K1784N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1784						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGGTGTCTTGCTTCTTCTTCA	0.428													False	0	True	3:108110745	0	A	108110745	C	A	108110745	3	1	78	1	0	0	0	0	1	0	0	0	10101	796	28	3	508	3	MYH15	3	108110745	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	6536476	108110745	89911685	12	6410											
SPSB4	92369	broad.mit.edu	37	chr3	140866041	140866041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccgctcggccctgggccGccagcgcctgcaggacatca	12	18	1	0	rs79933965		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:140866041G>A	ENST00000310546.2	+	3	1496	c.752G>A	c.(751-753)cGc>cAc	p.R251H	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	251	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCCCTGGGCCGCCAGCGCCTG	0.617													False	0	False	3:140866041	0	A	140866041	G	A	140866041	3	1	78	1	0	0	0	0	1	0	0	0	15197	1087	38	1	758	1	SPSB4	3	140866041	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	32755296	140866041	57156389	13	6411											
LETM1	3954	broad.mit.edu	37	chr4	1838239	1838239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagaaactccatgaacgGcaccaccacgaacacaagga	8	14	0	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:1838239G>A	ENST00000302787.2	-	4	951	c.655C>T	c.(655-657)Ccg>Tcg	p.P219S		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	219	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCCATGAACGGCACCACCACG	0.557													False	0	True	4:1838239	0	A	1838239	G	A	1838239	3	1	78	1	0	0	0	0	1	0	0	0	8785	1203	42	2	1608	2	LETM1	4	1838239	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		1838239	189316037	14	6412											
AHRR	57491	broad.mit.edu	37	chr5	434517	434517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcccagccaggtgtgGctgggggccagtgacaggag	19	9	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:434517G>T	ENST00000316418.5	+	12	1772	c.1728G>T	c.(1726-1728)tgG>tgT	p.W576C	AHRR_ENST00000512529.1_Missense_Mutation_p.W404C|AHRR_ENST00000505113.1_Missense_Mutation_p.W558C|AHRR_ENST00000506456.1_Missense_Mutation_p.W414C	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	558	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCAGGTGTGGCTGGGGGCCA	0.607													False	0	False	5:434517	0	T	434517	G	T	434517	3	4	78	1	0	0	0	0	1	0	0	0	417	1212	42	3	1774	3	AHRR	5	434517	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		434517	180480743	15	6413											
SNX2	6643	broad.mit.edu	37	chr5	122163297	122163297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgaaggattttaaaaccGttatcatcaagtacttagaa	8	5	2	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:122163297G>A	ENST00000379516.2	+	14	1573	c.1465G>A	c.(1465-1467)Gtt>Att	p.V489I	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.V372I	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	489					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	p.V489I(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TTTTAAAACCGTTATCATCAA	0.299													False	0	False	5:122163297	0	A	122163297	G	A	122163297	3	1	78	1	0	0	0	0	1	0	0	0	14971	1145	40	1	1519	1	SNX2	5	122163297	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	121728780	122163297	58751963	16	6414											
ADAMTS19	171019	broad.mit.edu	37	chr5	129037148	129037148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgcagagcagacaagtgGcctgtacccaacaactgagc	11	11	0	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:129037148G>A	ENST00000274487.4	+	20	3149	c.3004G>A	c.(3004-3006)Gcc>Acc	p.A1002T	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1002	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAGACAAGTGGCCTGTACCCA	0.532													False	0	False	5:129037148	0	A	129037148	G	A	129037148	3	1	78	1	0	0	0	0	1	0	0	0	264	1203	42	2	3082	2	ADAMTS19	5	129037148	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	6873851	129037148	51878112	17	6415											
PCDHGA3	0	broad.mit.edu	37	chr5	140725483	140725483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacacgggcgaggtgcgcaCggcgcgagccctgctggaca	17	14	0	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:140725483C>T	ENST00000253812.6	+	1	1883	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCGCACGGCGCGAGCC	0.697													False	0	False	5:140725483	0	T	140725483	C	T	140725483	3	4	78	1	0	0	0	0	1	0	0	0	11623	536	19	1	1885	1	PCDHGA3	5	140725483	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	11688335	140725483	40189777	18	6416											
PCDHGB1	0	broad.mit.edu	37	chr5	140729951	140729951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagaggagctagccaacGgctcacgggtggggaaactt	14	10	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:140729951G>A	ENST00000523390.1	+	1	124	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGCCAACGGCTCACGGGT	0.527											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	5:140729951	0	A	140729951	G	A	140729951	3	1	78	1	0	0	0	0	1	0	0	0	11630	1116	39	1	126	1	PCDHGB1	5	140729951	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	4468	140729951	40185309	19	6417											
PCDHGC3	0	broad.mit.edu	37	chr5	140856777	140856777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccagtacccgaggatgCccctctggggactgtcatcg	12	15	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:140856777C>T	ENST00000308177.3	+	1	1198	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGGATGCCCCTCTGGGG	0.582													False	0	True	5:140856777	0	T	140856777	C	T	140856777	3	4	78	1	0	0	0	0	1	0	0	0	11637	739	26	2	1096	2	PCDHGC3	5	140856777	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	126826	140856777	40058483	20	6418											
ARAP3	64411	broad.mit.edu	37	chr5	141044614	141044614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggctgcgttccatgccGtgaagtccagccggccctct	11	15	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:141044614G>A	ENST00000239440.4	-	19	2740	c.2675C>T	c.(2674-2676)aCg>aTg	p.T892M	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.T794M|ARAP3_ENST00000513878.1_Missense_Mutation_p.T554M	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	892					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTTCCATGCCGTGAAGTCCAG	0.657											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	5:141044614	0	A	141044614	G	A	141044614	3	1	78	1	0	0	0	0	1	0	0	0	842	1145	40	1	2019	1	ARAP3	5	141044614	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	187837	141044614	39870646	21	6419											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	78	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-HZ-A77P-01A-11D-A33T-08		7393450	163721617	22	6420											
BTN3A1	0	broad.mit.edu	37	chr6	26406286	26406286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggcaggtggtgaacgtgTatgcagatggaaaggaagtg	17	3	0	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:26406286T>C	ENST00000289361.6	+	3	603	c.235T>C	c.(235-237)Tat>Cat	p.Y79H	BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y79H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	79	Ig-like V-type 1.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGTGAACGTGTATGCAGATGG	0.562													False	0	False	6:26406286	0	C	26406286	T	C	26406286	3	2	78	1	0	0	0	0	1	0	0	0	1569	1638	57	4	241	4	BTN3A1	6	26406286	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08	19012836	26406286	144708781	23	6421											
GPX5	2880	broad.mit.edu	37	chr6	28501886	28501886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctggtcccaccgggctaCggtcagctcagtcaagacag	13	14	3	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:28501886C>T	ENST00000412168.2	+	5	697	c.608C>T	c.(607-609)aCg>aTg	p.T203M	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	203					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CACCGGGCTACGGTCAGCTCA	0.522													False	0	False	6:28501886	0	T	28501886	C	T	28501886	3	4	78	1	0	0	0	0	1	0	0	0	6790	536	19	1	626	1	GPX5	6	28501886	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	2095600	28501886	142613181	24	6422											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	78	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-HZ-A77P-01A-11D-A33T-08		44153778	114984885	25	6423											
EXOC4	60412	broad.mit.edu	37	chr7	132990791	132990791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactagccgagttgtgcagcGtaacaaggaaaaagggaaaa	13	6	0	0	rs140653799		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:132990791G>A	ENST00000253861.4	+	4	661	c.632G>A	c.(631-633)cGt>cAt	p.R211H	EXOC4_ENST00000539845.1_Missense_Mutation_p.R110H|EXOC4_ENST00000393161.2_Missense_Mutation_p.R211H	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	211					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTGTGCAGCGTAACAAGGAA	0.428													False	0	False	7:132990791	0	A	132990791	G	A	132990791	3	1	78	1	0	0	0	0	1	0	0	0	5338	1145	40	1	646	1	EXOC4	7	132990791	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	88837013	132990791	26147872	26	6424											
XPO7	23039	broad.mit.edu	37	chr8	21846540	21846540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacttgaagtactggggccGttgtgaaccaatcacctcca	9	12	1	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:21846540G>A	ENST00000434536.1	+	16	1943	c.1841G>A	c.(1840-1842)cGt>cAt	p.R614H	XPO7_ENST00000433566.4_Missense_Mutation_p.R606H|XPO7_ENST00000252512.9_Missense_Mutation_p.R605H			Q9UIA9	XPO7_HUMAN	exportin 7	605					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TACTGGGGCCGTTGTGAACCA	0.448													False	0	False	8:21846540	0	A	21846540	G	A	21846540	3	1	78	1	0	0	0	0	1	0	0	0	17533	1145	40	1	1928	1	XPO7	8	21846540	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		21846540	124517482	27	6425											
CNBD1	168975	broad.mit.edu	37	chr8	88365930	88365930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcctttggtgagattagcGtccttcttcaagttcctttc	8	10	2	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:88365930G>A	ENST00000518476.1	+	10	1270	c.1219G>A	c.(1219-1221)Gtc>Atc	p.V407I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	407								p.V407I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGAGATTAGCGTCCTTCTTCA	0.323													False	0	False	8:88365930	0	A	88365930	G	A	88365930	3	1	78	1	0	0	0	0	1	0	0	0	3614	1145	40	1	1257	1	CNBD1	8	88365930	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	66519390	88365930	57998092	28	6426											
MATN2	4147	broad.mit.edu	37	chr8	99045355	99045355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatatctgtttgaagaagaCaatcttttacggtctacaca	7	7	3	4			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:99045355C>T	ENST00000254898.5	+	17	2898	c.2667C>T	c.(2665-2667)gaC>gaT	p.D889D	RPL30_ENST00000518164.1_Intron|MATN2_ENST00000524308.1_Silent_p.D848D|MATN2_ENST00000522025.2_Silent_p.D605D|MATN2_ENST00000521689.1_Silent_p.D870D|MATN2_ENST00000520016.1_Silent_p.D889D	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	889						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TTGAAGAAGACAATCTTTTAC	0.358													False	0	False	8:99045355	0	T	99045355	C	T	99045355	2	4	78	1	0	0	0	0	0	0	0	1	9401	477	17	2		2	MATN2	8	99045355	Silent	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	10679425	99045355	47318667	29	6427											
TAF2	6873	broad.mit.edu	37	chr8	120770369	120770369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtagccattgcagttcttcAtaacttctgtccactgaaaa	6	10	3	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:120770369A>G	ENST00000378164.2	-	21	3010	c.2712T>C	c.(2710-2712)taT>taC	p.Y904Y	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	904					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCAGTTCTTCATAACTTCTGT	0.289													False	0	False	8:120770369	0	G	120770369	A	G	120770369	2	3	78	1	0	0	0	0	0	0	0	1	15606	224	8	4		4	TAF2	8	120770369	Silent	SNP	A	TCGA-HZ-A77P-01A-11D-A33T-08	21725014	120770369	25593653	30	6428											
SVIL	6840	broad.mit.edu	37	chr10	29822208	29822208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggacatagccacggattGgctgtcgtgtagagcctgct	14	9	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:29822208G>A	ENST00000375398.2	-	10	1537	c.1088C>T	c.(1087-1089)cCa>cTa	p.P363L	SVIL_ENST00000355867.4_Missense_Mutation_p.P363L|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin	363					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCCACGGATTGGCTGTCGTGT	0.557													False	0	False	10:29822208	0	A	29822208	G	A	29822208	3	1	78	1	0	0	0	0	1	0	0	0	15503	1348	47	2	5680	2	SVIL	10	29822208	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		29822208	105712539	31	6429											
CUL2	8453	broad.mit.edu	37	chr10	35317808	35317808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgagtaagaggccacGcaccagcctagaaggaaaaa	12	10	0	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:35317808G>A	ENST00000374748.1	-	17	1860	c.1547C>T	c.(1546-1548)gCg>gTg	p.A516V	CUL2_ENST00000374751.3_Missense_Mutation_p.A516V|CUL2_ENST00000374746.1_Missense_Mutation_p.A516V|CUL2_ENST00000602371.1_Missense_Mutation_p.A459V|CUL2_ENST00000537177.1_Missense_Mutation_p.A535V|CUL2_ENST00000374749.3_Missense_Mutation_p.A516V|CUL2_ENST00000374742.1_Missense_Mutation_p.A516V			Q13617	CUL2_HUMAN	cullin 2	516					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAGAGGCCACGCACCAGCCTA	0.318													False	0	False	10:35317808	0	A	35317808	G	A	35317808	3	1	78	1	0	0	0	0	1	0	0	0	4080	1087	38	1	714	1	CUL2	10	35317808	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	5495600	35317808	100216939	32	6430											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgccattgaaatgcaaaaGtctgttccaaataaagcctt	6	10	1	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:37486356G>C	ENST00000374660.1	+	35	2952	c.2853G>C	c.(2851-2853)aaG>aaC	p.K951N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1000						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGCAAAAGTCTGTTCCAA	0.308													False	0	True	10:37486356	0	C	37486356	G	C	37486356	3	2	78	1	0	0	0	0	1	0	0	0	658	1020	36	5	2610	5	ANKRD30A	10	37486356	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	2168548	37486356	98048391	33	6431											
KCNIP2	30819	broad.mit.edu	37	chr10	103590842	103590842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttgctttcactgactgaGggcagggcttggggcccgca	14	12	1	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:103590842G>A	ENST00000358038.3	-	2	507	c.156C>T	c.(154-156)ccC>ccT	p.P52P	KCNIP2_ENST00000356640.2_Silent_p.P52P|KCNIP2_ENST00000348850.5_Intron|KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000461105.1_Silent_p.P52P|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000353068.3_Intron	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	52					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CACTGACTGAGGGCAGGGCTT	0.637													False	0	True	10:103590842	0	A	103590842	G	A	103590842	2	1	78	1	0	0	0	0	0	0	0	1	8090	987	35	2		2	KCNIP2	10	103590842	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	66104486	103590842	31943905	34	6432											
OR51A4	401666	broad.mit.edu	37	chr11	4968175	4968175	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatgcaaggagggctctgtCttgatgataaaaagaatggt	12	5	3	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:4968175C>A	ENST00000380373.2	-	1	181	c.156G>T	c.(154-156)aaG>aaT	p.K52N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGCTCTGTCTTGATGATAA	0.433													False	0	False	11:4968175	0	A	4968175	C	A	4968175	3	1	78	1	0	0	0	0	1	0	0	0	11155	912	32	3	787	3	OR51A4	11	4968175	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08		4968175	130038341	35	6433											
ARNTL	406	broad.mit.edu	37	chr11	13408297	13408297	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttagtgacttgccatggccGctgtaaacactacatgttgc	9	10	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:13408297G>T	ENST00000401424.1	+	20	2272	c.1746G>T	c.(1744-1746)ccG>ccT	p.P582P	ARNTL_ENST00000389707.4_Silent_p.P624P|ARNTL_ENST00000403290.1_Silent_p.P625P|ARNTL_ENST00000361003.4_Silent_p.P507P|ARNTL_ENST00000403482.3_Silent_p.P623P|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000403510.3_Silent_p.P581P|ARNTL_ENST00000396441.3_Silent_p.P624P	NM_001030273.1	NP_001025444.1	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	625					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGCCATGGCCGCTGTAAACAC	0.468													False	0	False	11:13408297	0	T	13408297	G	T	13408297	2	4	78	1	0	0	0	0	0	0	0	1	971	1074	38	3		3	ARNTL	11	13408297	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	8440122	13408297	121598219	36	6434											
PAX6	5080	broad.mit.edu	37	chr11	31823124	31823124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacgcttggtatgttatcGttggtacagaccccctcgga	10	11	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:31823124G>A	ENST00000419022.1	-	7	852	c.384C>T	c.(382-384)aaC>aaT	p.N128N	PAX6_ENST00000379107.2_Silent_p.N128N|PAX6_ENST00000379132.3_Silent_p.N114N|PAX6_ENST00000379129.2_Silent_p.N128N|PAX6_ENST00000241001.8_Silent_p.N114N|PAX6_ENST00000379123.5_Silent_p.N114N|PAX6_ENST00000379111.2_Silent_p.N114N|PAX6_ENST00000379115.4_Silent_p.N128N	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	114	Paired.		R -> C (in FOVHYP; isolated).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GTATGTTATCGTTGGTACAGA	0.512									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				False	0	False	11:31823124	0	A	31823124	G	A	31823124	2	1	78	1	0	0	0	0	0	0	0	1	11551	1136	40	1		1	PAX6	11	31823124	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	18414827	31823124	103183392	37	6435											
HSD17B12	51144	broad.mit.edu	37	chr11	43852525	43852525	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttttgctttctctcttgcaGatgacacaattggtactgcc	8	10	2	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:43852525G>T	ENST00000278353.4	+	7	620		c.e7-1		RP11-613D13.5_ENST00000499066.2_RNA|HSD17B12_ENST00000529261.1_Splice_Site	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12						long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						CTCTCTTGCAGATGACACAAT	0.428													False	0	False	11:43852525	0	T	43852525	G	T	43852525	5	4	78	1	0	0	0	0	0	0	1	0	7428	956	33	3	527	3	HSD17B12	11	43852525	Splice_Site	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	12029401	43852525	91153991	38	6436											
OR4A47	403253	broad.mit.edu	37	chr11	48510911	48510911	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaactggtctgcactgaCacccatgctattggcctctt	8	12	2	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:48510911C>A	ENST00000446524.1	+	1	643	c.567C>A	c.(565-567)gaC>gaA	p.D189E		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCTGCACTGACACCCATGCTA	0.438													False	0	False	11:48510911	0	A	48510911	C	A	48510911	3	1	78	1	0	0	0	0	1	0	0	0	11110	477	17	3	569	3	OR4A47	11	48510911	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	4658386	48510911	86495605	39	6437											
SIPA1	6494	broad.mit.edu	37	chr11	65408965	65408965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccccctgcactgcccaaCgcggccgtgtccatcctgga	11	18	0	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:65408965C>T	ENST00000394224.3	+	2	869	c.573C>T	c.(571-573)aaC>aaT	p.N191N	SIPA1_ENST00000534313.1_Silent_p.N191N|SIPA1_ENST00000527525.1_Silent_p.N191N|SIPA1_ENST00000394227.3_Silent_p.N191N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	191					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CACTGCCCAACGCGGCCGTGT	0.637													False	0	False	11:65408965	0	T	65408965	C	T	65408965	2	4	78	1	0	0	0	0	0	0	0	1	14409	535	19	1		1	SIPA1	11	65408965	Silent	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	16898054	65408965	69597551	40	6438											
KLC2	64837	broad.mit.edu	37	chr11	66034032	66034032	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgctgccaagcttcccTccagcatgcctcttcatcca	7	17	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:66034032T>A	ENST00000394065.2	+	13	2457	c.1439T>A	c.(1438-1440)cTc>cAc	p.L480H	KLC2_ENST00000394066.2_Intron|KLC2_ENST00000421552.1_Intron|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000417856.1_Intron|KLC2_ENST00000394067.2_Intron|KLC2_ENST00000316924.5_Intron			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	0					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAAGCTTCCCTCCAGCATGCC	0.647													False	0	True	11:66034032	0	A	66034032	T	A	66034032	3	1	78	1	0	0	0	0	1	0	0	0	8384	1566	54	5		5	KLC2	11	66034032	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08	625067	66034032	68972484	41	6439											
FGF23	8074	broad.mit.edu	37	chr12	4479899	4479899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggtagacgtcgtacccGttttccagcgtctggtgttg	14	9	1	1	rs145147639		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:4479899G>A	ENST00000237837.1	-	3	511	c.366C>T	c.(364-366)aaC>aaT	p.N122N		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	122					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTCGTACCCGTTTTCCAGCG	0.607													False	0	True	12:4479899	0	A	4479899	G	A	4479899	2	1	78	1	0	0	0	0	0	0	0	1	5892	1136	40	1		1	FGF23	12	4479899	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		4479899	129371996	42	6440											
PDE3A	5139	broad.mit.edu	37	chr12	20801641	20801641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggtgctatataacgatcGttcagttttggagaatcatc	11	7	2	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:20801641G>A	ENST00000359062.3	+	13	2625	c.2585G>A	c.(2584-2586)cGt>cAt	p.R862H	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	862	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TATAACGATCGTTCAGTTTTG	0.363													False	0	False	12:20801641	0	A	20801641	G	A	20801641	3	1	78	1	0	0	0	0	1	0	0	0	11705	1145	40	1	2635	1	PDE3A	12	20801641	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	16321742	20801641	113050254	43	6441											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	78	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	4596643	25398284	108453611	44	6442											
CNTN1	1272	broad.mit.edu	37	chr12	41422888	41422888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctacagacctgatggccaGcatgatggcaagctgtattc	10	11	1	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:41422888G>A	ENST00000551295.2	+	23	2964	c.2847G>A	c.(2845-2847)caG>caA	p.Q949Q	CNTN1_ENST00000347616.1_Silent_p.Q949Q|CNTN1_ENST00000348761.2_Silent_p.Q938Q	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	949	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTGATGGCCAGCATGATGGCA	0.423													False	0	False	12:41422888	0	A	41422888	G	A	41422888	2	1	78	1	0	0	0	0	0	0	0	1	3663	962	34	2		2	CNTN1	12	41422888	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	16024604	41422888	92429007	45	6443											
ADAMTS20	80070	broad.mit.edu	37	chr12	43847747	43847747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggttgcactttcgattcCgcctccacatgttcttgaac	7	14	1	1	rs150619594		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:43847747C>T	ENST00000389420.3	-	12	1722	c.1723G>A	c.(1723-1725)Gga>Aga	p.G575R	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G575R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	575	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTTCGATTCCGCCTCCACAT	0.418													False	0	False	12:43847747	0	T	43847747	C	T	43847747	3	4	78	1	0	0	0	0	1	0	0	0	266	661	23	1	4120	1	ADAMTS20	12	43847747	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	2424859	43847747	90004148	46	6444											
COL2A1	1280	broad.mit.edu	37	chr12	48367243	48367243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattcctgctcgggccctcCtatgtccatgggtgcaatgt	11	12	0	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:48367243C>T	ENST00000380518.3	-	54	4575	c.4411G>A	c.(4411-4413)Gga>Aga	p.G1471R	COL2A1_ENST00000337299.6_Missense_Mutation_p.G1402R|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1471	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCGGGCCCTCCTATGTCCATG	0.527													False	0	False	12:48367243	0	T	48367243	C	T	48367243	3	4	78	1	0	0	0	0	1	0	0	0	3710	690	24	2	56	2	COL2A1	12	48367243	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	4519496	48367243	85484652	47	6445											
SCN8A	6334	broad.mit.edu	37	chr12	52180350	52180350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaatgccttggtgggcGccatcccctccatcatgaat	11	12	1	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:52180350G>A	ENST00000354534.6	+	22	4145	c.3967G>A	c.(3967-3969)Gcc>Acc	p.A1323T	SCN8A_ENST00000545061.1_Missense_Mutation_p.A1282T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CTTGGTGGGCGCCATCCCCTC	0.502													False	0	False	12:52180350	0	A	52180350	G	A	52180350	3	1	78	1	0	0	0	0	1	0	0	0	14005	1087	38	1	4049	1	SCN8A	12	52180350	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	3813107	52180350	81671545	48	6446											
KRT86	3892	broad.mit.edu	37	chr12	52695732	52695732	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttactgtggtggccgcgCcttcagctgcatctcggcct	11	14	3	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:52695732C>A	ENST00000293525.5	+	1	84	c.32C>A	c.(31-33)gCc>gAc	p.A11D	KRT86_ENST00000544024.1_Missense_Mutation_p.A11D|KRT86_ENST00000423955.2_Missense_Mutation_p.A11D	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	11	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTGGCCGCGCCTTCAGCTGC	0.667													False	0	False	12:52695732	0	A	52695732	C	A	52695732	3	1	78	1	0	0	0	0	1	0	0	0	8550	739	26	3	34	3	KRT86	12	52695732	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	515382	52695732	81156163	49	6447											
CHST11	50515	broad.mit.edu	37	chr12	105150764	105150764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtcctgcaccagatgcGgcgggaccaggtgacagaca	14	12	0	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:105150764G>T	ENST00000303694.5	+	3	681	c.242G>T	c.(241-243)cGg>cTg	p.R81L	CHST11_ENST00000549260.1_Missense_Mutation_p.R76L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	81					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CACCAGATGCGGCGGGACCAG	0.567													False	0	False	12:105150764	0	T	105150764	G	T	105150764	3	4	78	1	0	0	0	0	1	0	0	0	3422	1116	39	3	252	3	CHST11	12	105150764	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	52455032	105150764	28701131	50	6448											
FRY	10129	broad.mit.edu	37	chr13	32783787	32783787	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctttagccaacaatgagaaAtggagcaacaacctgaggat	10	8	0	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:32783787A>T	ENST00000380250.3	+	33	4837	c.4341A>T	c.(4339-4341)aaA>aaT	p.K1447N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACAATGAGAAATGGAGCAACA	0.463													False	0	True	13:32783787	0	T	32783787	A	T	32783787	3	4	78	1	0	0	0	0	1	0	0	0	6105	98	4	5	4471	5	FRY	13	32783787	Missense_Mutation	SNP	A	TCGA-HZ-A77P-01A-11D-A33T-08		32783787	82386091	51	6449											
ESR2	0	broad.mit.edu	37	chr14	64727336	64727336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgctcggggctcagggcGtccagcagcagctcccgcac	14	16	1	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr14:64727336G>A	ENST00000557772.1	-	4	782	c.783C>T	c.(781-783)gaC>gaT	p.D261D	ESR2_ENST00000542956.1_Silent_p.D261D|ESR2_ENST00000553796.1_Silent_p.D261D|ESR2_ENST00000353772.3_Silent_p.D261D|ESR2_ENST00000358599.5_Silent_p.D261D|ESR2_ENST00000357782.2_Silent_p.D261D|ESR2_ENST00000341099.4_Silent_p.D261D|ESR2_ENST00000554572.1_Silent_p.D261D|ESR2_ENST00000555278.1_Silent_p.D261D|ESR2_ENST00000267525.6_Silent_p.D261D|ESR2_ENST00000555483.1_5'UTR	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	261	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.D261D(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GGCTCAGGGCGTCCAGCAGCA	0.682													False	0	False	14:64727336	0	A	64727336	G	A	64727336	2	1	78	1	0	0	0	0	0	0	0	1	5289	1136	40	1		1	ESR2	14	64727336	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		64727336	42622204	52	6450											
MKL2	57496	broad.mit.edu	37	chr16	14280893	14280893	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagaaaagtctcaaggaagGtcagtctgtctgtggacagg	13	8	4	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:14280893G>T	ENST00000341243.5	+	1	121		c.e1+1		MKL2_ENST00000572567.1_Splice_Site|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000571589.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2						cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCAAGGAAGGTCAGTCTGTC	0.478													False	0	True	16:14280893	0	T	14280893	G	T	14280893	5	4	78	1	0	0	0	0	0	0	1	0	9669	1276	44	3		3	MKL2	16	14280893	Splice_Site	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		14280893	76073860	53	6451											
WWP2	11060	broad.mit.edu	37	chr16	69951707	69951707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgaccgcggagtacgtgcGcaactatgagcagtggcagt	14	11	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:69951707G>A	ENST00000359154.2	+	10	1201	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	WWP2_ENST00000448661.1_Missense_Mutation_p.R367H|WWP2_ENST00000542271.1_Missense_Mutation_p.R251H|WWP2_ENST00000356003.2_Missense_Mutation_p.R367H|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	367					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGTACGTGCGCAACTATGAG	0.592													False	0	False	16:69951707	0	A	69951707	G	A	69951707	3	1	78	1	0	0	0	0	1	0	0	0	17500	1087	38	1	1138	1	WWP2	16	69951707	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	55670814	69951707	20403046	54	6452											
ZFHX3	463	broad.mit.edu	37	chr16	72822010	72822033	+	In_Frame_Del	DEL	GCTGCTGCTGCTGCTGTAGTTGCC	GCTGCTGCTGCTGCTGTAGTTGCC	-													ctgctgctgctgcactttttGctgctgctgctgctgtagtt					rs145311621	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	GCTGCTGCTGCTGCTGTAGTTGCC	GCTGCTGCTGCTGCTGTAGTTGCC	-	-	GCTGCTGCTGCTGCTGTAGTTGCC	GCTGCTGCTGCTGCTGTAGTTGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:72822010_72822033delGCTGCTGCTGCTGCTGTAGTTGCC	ENST00000268489.5	-	10	10814_10837	c.10142_10165delGGCAACTACAGCAGCAGCAGCAGC	c.(10141-10167)cggcaactacagcagcagcagcagcaa>caa	p.RQLQQQQQ3381del	ZFHX3_ENST00000397992.5_In_Frame_Del_p.RQLQQQQQ2467del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3381	Poly-Gln.		Missing.		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				tgcactttttgctgctgctgctgctgtagttgccgctgctgctg	0.607													False	1	True	16:72822010	0	-	72822033	GCTGCTGCTGCTGCTGTAGTTGCC	-	72822010	7	5	78	1	0	1	0	1	0	0	0	0	17717	1328	46	0	950	0	ZFHX3	16	72822010	In_Frame_Del	DEL	GCTGCTGCTGCTGCTGTAGTTGCC	TCGA-HZ-A77P-01A-11D-A33T-08	2870303	72822010	17532743	55	6453											
TP53	7157	broad.mit.edu	37	chr17	7578484	7578485	+	Frame_Shift_Ins	INS	-	-	A													ggtgccgggcgggggtgtggINSaatcaacccacagctgcaca							TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:7578484_7578485insA	ENST00000420246.2	-	5	577_578	c.445_446insT	c.(445-447)tccfs	p.S149fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.S149fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S149fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	149	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S149F(6)|p.S149fs*32(5)|p.S149P(4)|p.S149T(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*16(1)|p.S149fs*21(1)|p.D148fs*23(1)|p.S149fs*31(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGGGGTGTGGAATCAACCCAC	0.604		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)			False	2	False	17:7578484	0	A	7578485	-	A	7578484	7	5	78	1	0	1	1	0	0	0	0	0	16464	1174	41	0	852	0	TP53	17	7578484	Frame_Shift_Ins	INS	-	TCGA-HZ-A77P-01A-11D-A33T-08		7578484	73616726	56	6454											
UBB	7314	broad.mit.edu	37	chr17	16285438	16285438	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccctgcacctggtcctgcgtCtgagaggtggtatgcagatc	13	12	1	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:16285438C>G	ENST00000302182.3	+	2	609	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	UBB_ENST00000395839.1_Missense_Mutation_p.L73V|UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Missense_Mutation_p.L73V|UBB_ENST00000535788.1_Missense_Mutation_p.L73V	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	73	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		GGTCCTGCGTCTGAGAGGTGG	0.547													False	0	False	17:16285438	0	G	16285438	C	G	16285438	3	3	78	1	0	0	0	0	1	0	0	0	16925	912	32	5	219	5	UBB	17	16285438	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	8706954	16285438	64909772	57	6455											
LRRC45	201255	broad.mit.edu	37	chr17	79983019	79983019	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcggaggagctggcccTagccctgaagggcaacacca	16	13	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:79983019T>G	ENST00000306688.3	+	4	839	c.497T>G	c.(496-498)cTa>cGa	p.L166R	LRRC45_ENST00000583383.1_3'UTR	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	166						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GAGCTGGCCCTAGCCCTGAAG	0.687													False	0	True	17:79983019	0	G	79983019	T	G	79983019	3	3	78	1	0	0	0	0	1	0	0	0	9064	1522	53	4	511	4	LRRC45	17	79983019	Missense_Mutation	SNP	T	TCGA-HZ-A77P-01A-11D-A33T-08	63697581	79983019	1212191	58	6456											
EPB41L3	23136	broad.mit.edu	37	chr18	5419762	5419762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacttcttcccccttcctcCgtttgtcctcttcctcgtcc	4	19	2	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr18:5419762C>T	ENST00000341928.2	-	12	1794	c.1454G>A	c.(1453-1455)cGg>cAg	p.R485Q	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R503Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R485Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R503Q|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R503Q|EPB41L3_ENST00000427684.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	485	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ccccttcctccgtttgtcctc	0.552													False	0	False	18:5419762	0	T	5419762	C	T	5419762	3	4	78	1	0	0	0	0	1	0	0	0	5186	652	23	1	1853	1	EPB41L3	18	5419762	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08		5419762	72657486	59	6457											
TCF4	6925	broad.mit.edu	37	chr18	53017618	53017618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaaacctggaggaacttttCgaactttctttgtctgtacc	8	10	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr18:53017618C>T	ENST00000354452.3	-	8	1132	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	TCF4_ENST00000356073.4_Missense_Mutation_p.R174Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R103Q|TCF4_ENST00000568740.1_Missense_Mutation_p.R149Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R174Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R44Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R103Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R44Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R174Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R172Q|TCF4_ENST00000565018.2_Missense_Mutation_p.R174Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R44Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R150Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R132Q|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000537578.1_Missense_Mutation_p.R150Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R150Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R276Q|TCF4_ENST00000566279.1_Intron	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	174					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGAACTTTTCGAACTTTCTT	0.368													False	0	True	18:53017618	0	T	53017618	C	T	53017618	3	4	78	1	0	0	0	0	1	0	0	0	15777	884	31	1	1542	1	TCF4	18	53017618	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	47597856	53017618	25059630	60	6458											
ANKRD24	170961	broad.mit.edu	37	chr19	4219626	4219626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgaagagtgagcgacaCgcagccgaggcacagctggc	14	11	1	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:4219626C>T	ENST00000600132.1	+	19	3318	c.3042C>T	c.(3040-3042)caC>caT	p.H1014H	ANKRD24_ENST00000318934.4_Silent_p.H1014H|ANKRD24_ENST00000262970.5_Silent_p.H1104H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1014										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGAGCGACACGCAGCCGAGG	0.652													False	0	False	19:4219626	0	T	4219626	C	T	4219626	2	4	78	1	0	0	0	0	0	0	0	1	653	535	19	1		1	ANKRD24	19	4219626	Silent	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08		4219626	54909357	61	6459											
OR10H2	26538	broad.mit.edu	37	chr19	15839311	15839311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctcctgggctggtggctCggtcatggggatggtggtga	19	8	1	1	rs139469467		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:15839311C>T	ENST00000305899.3	+	1	478	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCTGGTGGCTCGGTCATGGGG	0.592													False	0	False	19:15839311	0	T	15839311	C	T	15839311	3	4	78	1	0	0	0	0	1	0	0	0	10974	893	31	1	460	1	OR10H2	19	15839311	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	11619685	15839311	43289672	62	6460											
MZF1	7593	broad.mit.edu	37	chr19	59073841	59073841	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggctgaagcgctggccacaCtcggggcaggcaaagggttt	16	10	0	1			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:59073841C>G	ENST00000215057.2	-	6	2363	c.1803G>C	c.(1801-1803)gaG>gaC	p.E601D	AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E601D|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	601					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCTGGCCACACTCGGGGCAGG	0.662													False	0	False	19:59073841	0	G	59073841	C	G	59073841	3	3	78	1	0	0	0	0	1	0	0	0	10175	564	20	5	405	5	MZF1	19	59073841	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08	43234530	59073841	55142	63	6461											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493317	20493317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcttgagcattttggcGcaaaatgacctcaatgattt	7	9	2	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:20493317G>A	ENST00000202677.7	-	32	4703	c.4696C>T	c.(4696-4698)Cgc>Tgc	p.R1566C		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GCATTTTGGCGCAAAATGACC	0.473													False	0	False	20:20493317	0	A	20493317	G	A	20493317	3	1	78	1	0	0	0	0	1	0	0	0	13093	1087	38	1	957	1	RALGAPA2	20	20493317	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		20493317	42532203	64	6462											
DEFB119	245932	broad.mit.edu	37	chr20	29978252	29978252	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactggttcttctatggccAgaaggatggcaagaaacagg	12	8	3	2			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:29978252A>G	ENST00000339144.3	-	1	141	c.35T>C	c.(34-36)cTg>cCg	p.L12P	DEFB119_ENST00000376315.2_Missense_Mutation_p.L12P|DEFB119_ENST00000376321.3_Missense_Mutation_p.L12P|DEFB119_ENST00000492344.1_5'UTR			Q8N690	DB119_HUMAN	defensin, beta 119	12					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTCTATGGCCAGAAGGATGGC	0.547													False	0	False	20:29978252	0	G	29978252	A	G	29978252	3	3	78	1	0	0	0	0	1	0	0	0	4436	188	7	4	481	4	DEFB119	20	29978252	Missense_Mutation	SNP	A	TCGA-HZ-A77P-01A-11D-A33T-08	9484935	29978252	33047268	65	6463											
SON	6651	broad.mit.edu	37	chr21	34922087	34922087	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagaccaatgaatcccctGcagttgtgctagaacctcct	8	13	0	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr21:34922087G>T	ENST00000356577.4	+	3	1025	c.550G>T	c.(550-552)Gca>Tca	p.A184S	SON_ENST00000290239.6_Missense_Mutation_p.A184S|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.A184S|SON_ENST00000300278.4_Missense_Mutation_p.A184S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	184					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGAATCCCCTGCAGTTGTGCT	0.448											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	21:34922087	0	T	34922087	G	T	34922087	3	4	78	1	0	0	0	0	1	0	0	0	15006	1319	46	3	560	3	SON	21	34922087	Missense_Mutation	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		34922087	13207808	66	6464											
SEZ6L	23544	broad.mit.edu	37	chr22	26743709	26743709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcaaggaatgactcctgctCggatttacccgagatccaga	9	11	1	3			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr22:26743709C>T	ENST00000529632.2	+	11	2433	c.2237C>T	c.(2236-2238)tCg>tTg	p.S746L	SEZ6L_ENST00000248933.6_Missense_Mutation_p.S746L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S746L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S519L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	746	Sushi 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GACTCCTGCTCGGATTTACCC	0.517													False	0	False	22:26743709	0	T	26743709	C	T	26743709	3	4	78	1	0	0	0	0	1	0	0	0	14224	893	31	1	2279	1	SEZ6L	22	26743709	Missense_Mutation	SNP	C	TCGA-HZ-A77P-01A-11D-A33T-08		26743709	24560857	67	6465											
PPP2R3B	28227	broad.mit.edu	37	chrX	299380	299380	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcagtctcctcggccaccagGatgtcgtactcctcggccgc	11	17	1	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:299380G>T	ENST00000390665.3	-	12	1554	c.1536C>A	c.(1534-1536)atC>atA	p.I512I		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	512					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCCACCAGGATGTCGTACT	0.692													False	0	False	X:299380	0	T	299380	G	T	299380	2	4	78	1	0	0	0	0	0	0	0	1	12463	1164	41	3		3	PPP2R3B	23	299380	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08		299380	154971180	68	6466											
CXorf36	79742	broad.mit.edu	37	chrX	45011191	45011191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagccggaaaccaggcaGctaaaaatgtctttattctc	9	10	2	0			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:45011191G>A	ENST00000398000.2	-	5	1082	c.1008C>T	c.(1006-1008)agC>agT	p.S336S	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	336						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						AAACCAGGCAGCTAAAAATGT	0.542													False	0	False	X:45011191	0	A	45011191	G	A	45011191	2	1	78	1	0	0	0	0	0	0	0	1	4131	962	34	2		2	CXorf36	23	45011191	Silent	SNP	G	TCGA-HZ-A77P-01A-11D-A33T-08	44711811	45011191	110259369	69	6467											
ANGPTL7	10218	broad.mit.edu	37	chr1	11252368	11252368	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctctaccagaagaactacCgcatctctggagtgtataag	8	12	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:11252368C>A	ENST00000376819.3	+	2	657	c.418C>A	c.(418-420)Cgc>Agc	p.R140S	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	140	Fibrinogen C-terminal.		R -> H (in dbSNP:rs28991002).		response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GAAGAACTACCGCATCTCTGG	0.512													False	0	False	1:11252368	0	A	11252368	C	A	11252368	3	1	79	1	0	0	0	0	1	0	0	0	619	652	23	3	424	3	ANGPTL7	1	11252368	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		11252368	237998253	1	6468											
PRDM2	7799	broad.mit.edu	37	chr1	14108532	14108532	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagctcagcaaaatgtcgtcGaataagctcaaattaaatgc	8	8	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:14108532G>T	ENST00000235372.7	+	8	5098	c.4242G>T	c.(4240-4242)tcG>tcT	p.S1414S	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Silent_p.S1213S|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Silent_p.S1414S|PRDM2_ENST00000413440.1_Silent_p.S1213S|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1414	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAATGTCGTCGAATAAGCTCA	0.393													False	0	False	1:14108532	0	T	14108532	G	T	14108532	2	4	79	1	0	0	0	0	0	0	0	1	12534	1045	37	3		3	PRDM2	1	14108532	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2856164	14108532	235142089	2	6469											
RSC1A1	6248	broad.mit.edu	37	chr1	15988098	15988098	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgccacagatattgacCgcattctccgtgctggcttt	8	13	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:15988098C>A	ENST00000345034.1	+	1	1735	c.1735C>A	c.(1735-1737)Cgc>Agc	p.R579S	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	579	UBA.				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATATTGACCGCATTCTCCG	0.468													False	0	False	1:15988098	0	A	15988098	C	A	15988098	3	1	79	1	0	0	0	0	1	0	0	0	13777	652	23	3	1737	3	RSC1A1	1	15988098	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1879566	15988098	233262523	3	6470											
NBPF1	55672	broad.mit.edu	37	chr1	16902777	16902777	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttacctgggctgagcttttGgacaaggtgctgtgccagtc	13	10	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:16902777G>T	ENST00000430580.2	-	19	2991	c.2104C>A	c.(2104-2106)Caa>Aaa	p.Q702K	NBPF1_ENST00000287968.8_Missense_Mutation_p.Q67K|NBPF1_ENST00000432949.1_Missense_Mutation_p.Q160K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	702						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGAGCTTTTGGACAAGGTGC	0.562													False	0	True	1:16902777	0	T	16902777	G	T	16902777	3	4	79	1	0	0	0	0	1	0	0	0	10259	1357	47	3	1364	3	NBPF1	1	16902777	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	914679	16902777	232347844	4	6471											
SH2D5	400745	broad.mit.edu	37	chr1	21050638	21050638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcggtaggcccccgagCggatcaccttgctgcgaatg	14	14	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21050638C>T	ENST00000375031.1	-	6	1109	c.485G>A	c.(484-486)cGc>cAc	p.R162H	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Missense_Mutation_p.R246H	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	162								p.R162H(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCCCCCGAGCGGATCACCTT	0.667													False	0	False	1:21050638	0	T	21050638	C	T	21050638	3	4	79	1	0	0	0	0	1	0	0	0	14318	768	27	1	550	1	SH2D5	1	21050638	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4147861	21050638	228199983	5	6472											
EIF4G3	8672	broad.mit.edu	37	chr1	21180069	21180069	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacctagttaaggtccttcGggaatcaaactctacaggcg	9	11	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21180069G>T	ENST00000602326.1	-	25	3968	c.3385C>A	c.(3385-3387)Cga>Aga	p.R1129R	EIF4G3_ENST00000374935.3_Silent_p.R843R|EIF4G3_ENST00000264211.8_Silent_p.R1123R|EIF4G3_ENST00000536266.1_Silent_p.R727R|EIF4G3_ENST00000537738.1_Silent_p.R613R|EIF4G3_ENST00000374937.3_Silent_p.R1129R|EIF4G3_ENST00000400422.1_Silent_p.R1123R	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1123					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AAGGTCCTTCGGGAATCAAAC	0.507													False	0	True	1:21180069	0	T	21180069	G	T	21180069	2	4	79	1	0	0	0	0	0	0	0	1	5070	1124	39	3		3	EIF4G3	1	21180069	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	129431	21180069	228070552	6	6473											
CSMD2	114784	broad.mit.edu	37	chr1	33985222	33985222	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggttctcaaatgtggcccGaacattggtgttctcgtggc	13	9	2	0	rs144356782	by1000genomes	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:33985222G>T	ENST00000373381.4	-	70	10968	c.10792C>A	c.(10792-10794)Cgg>Agg	p.R3598R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3454						integral to membrane|plasma membrane	protein binding	p.R3454W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AATGTGGCCCGAACATTGGTG	0.537													False	0	True	1:33985222	0	T	33985222	G	T	33985222	2	4	79	1	0	0	0	0	0	0	0	1	3970	1057	37	3		3	CSMD2	1	33985222	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	12805153	33985222	215265399	7	6474											
MACF1	23499	broad.mit.edu	37	chr1	39852861	39852861	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttattttctcatttcagccGatcgcattaacagactccag	5	11	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:39852861G>T	ENST00000564288.1	+	58	15124	c.14347G>T	c.(14347-14349)Gat>Tat	p.D4783Y	MACF1_ENST00000372915.3_Missense_Mutation_p.D4788Y|MACF1_ENST00000317713.7_Missense_Mutation_p.D2721Y|MACF1_ENST00000361689.2_Missense_Mutation_p.D2721Y|MACF1_ENST00000539005.1_Missense_Mutation_p.D2700Y|MACF1_ENST00000567887.1_Missense_Mutation_p.D4820Y|MACF1_ENST00000545844.1_Missense_Mutation_p.D2721Y|MACF1_ENST00000289893.4_Missense_Mutation_p.D3223Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4788					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATTTCAGCCGATCGCATTAA	0.438													False	0	False	1:39852861	0	T	39852861	G	T	39852861	3	4	79	1	0	0	0	0	1	0	0	0	9207	1058	37	3	14522	3	MACF1	1	39852861	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5867639	39852861	209397760	8	6475											
MACF1	23499	broad.mit.edu	37	chr1	39907708	39907708	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acctcaatactgttaaagatCagttaaatgaaatgaaggtt	7	5	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:39907708C>A	ENST00000564288.1	+	75	19534	c.18757C>A	c.(18757-18759)Cag>Aag	p.Q6253K	MACF1_ENST00000372915.3_Missense_Mutation_p.Q6152K|MACF1_ENST00000317713.7_Missense_Mutation_p.Q4194K|MACF1_ENST00000361689.2_Missense_Mutation_p.Q4194K|MACF1_ENST00000539005.1_Missense_Mutation_p.Q4064K|MACF1_ENST00000567887.1_Missense_Mutation_p.Q6290K|MACF1_ENST00000545844.1_Missense_Mutation_p.Q4194K|MACF1_ENST00000289893.4_Missense_Mutation_p.Q4696K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6262					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTTAAAGATCAGTTAAATGA	0.358													False	0	False	1:39907708	0	A	39907708	C	A	39907708	3	1	79	1	0	0	0	0	1	0	0	0	9207	827	29	3	19013	3	MACF1	1	39907708	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	54847	39907708	209342913	9	6476											
B4GALT2	8704	broad.mit.edu	37	chr1	44455983	44455983	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatctaggtttaccaagattCaaaacacgaagctgaccatg	7	9	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:44455983C>A	ENST00000356836.6	+	7	1772	c.982C>A	c.(982-984)Caa>Aaa	p.Q328K	B4GALT2_ENST00000309519.7_Missense_Mutation_p.Q357K|B4GALT2_ENST00000372324.1_Missense_Mutation_p.Q328K|B4GALT2_ENST00000434555.2_Missense_Mutation_p.Q262K	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	328					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TACCAAGATTCAAAACACGAA	0.473													False	0	True	1:44455983	0	A	44455983	C	A	44455983	3	1	79	1	0	0	0	0	1	0	0	0	1275	827	29	3	1004	3	B4GALT2	1	44455983	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4548275	44455983	204794638	10	6477											
KIF2C	11004	broad.mit.edu	37	chr1	45219408	45219408	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttatgttttcatagttcGgaggaaatcatgtcttgtga	9	4	3	1	rs150604746		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:45219408G>T	ENST00000372217.1	+	6	755	c.404G>T	c.(403-405)cGg>cTg	p.R135L	KIF2C_ENST00000372224.4_Missense_Mutation_p.R189L|KIF2C_ENST00000372218.4_Missense_Mutation_p.R148L|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372222.3_Missense_Mutation_p.R76L			Q99661	KIF2C_HUMAN	kinesin family member 2C	189	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TTCATAGTTCGGAGGAAATCA	0.398													False	0	False	1:45219408	0	T	45219408	G	T	45219408	3	4	79	1	0	0	0	0	1	0	0	0	8349	1116	39	3	592	3	KIF2C	1	45219408	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	763425	45219408	204031213	11	6478											
ATPAF1	64756	broad.mit.edu	37	chr1	47101584	47101584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaacccgtaggtctctttcCgatcagtagcgtagaagagc	10	11	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:47101584C>A	ENST00000576409.1	-	9	982	c.920G>T	c.(919-921)cGg>cTg	p.R307L	ATPAF1_ENST00000574428.1_Missense_Mutation_p.R216L|ATPAF1_ENST00000542495.1_Missense_Mutation_p.R133L|ATPAF1_ENST00000329231.4_Missense_Mutation_p.R239L|ATPAF1_ENST00000532925.1_Missense_Mutation_p.R196L|ATPAF1_ENST00000371937.4_Missense_Mutation_p.R284L			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	284					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GGTCTCTTTCCGATCAGTAGC	0.458													False	0	False	1:47101584	0	A	47101584	C	A	47101584	3	1	79	1	0	0	0	0	1	0	0	0	1204	652	23	3	139	3	ATPAF1	1	47101584	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1882176	47101584	202149037	12	6479											
SLC5A9	200010	broad.mit.edu	37	chr1	48697238	48697239	+	Frame_Shift_Del	DEL	AC	AC	-													tggcctcatggccgtgatctAcacagatgctctgcagacgg							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:48697238_48697239delAC	ENST00000236495.5	+	7	757_758	c.707_708delAC	c.(706-708)tacfs	p.Y236fs	SLC5A9_ENST00000533824.1_Frame_Shift_Del_p.Y232fs|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000438567.2_Frame_Shift_Del_p.Y211fs	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	211						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCCGTGATCTACACAGATGCTC	0.554													False	2	False	1:48697238	0	-	48697239	AC	-	48697238	7	5	79	1	0	1	0	1	0	0	0	0	14752	391	14	0	733	0	SLC5A9	1	48697238	Frame_Shift_Del	DEL	AC	TCGA-HZ-A77Q-01A-11D-A36O-08	1595654	48697238	200553383	13	6480											
SPATA6	54558	broad.mit.edu	37	chr1	48865184	48865184	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgaagaaattgtaggctgttCgtagttttttgcatttatac	9	4	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:48865184C>A	ENST00000371847.3	-	7	783	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E207*|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E135*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	207					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.E207*(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTAGGCTGTTCGTAGTTTTTT	0.408													False	0	False	1:48865184	0	A	48865184	C	A	48865184	4	1	79	1	0	0	0	0	0	1	0	0	15095	893	31	3	875	3	SPATA6	1	48865184	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	167946	48865184	200385437	14	6481											
DIO1	1733	broad.mit.edu	37	chr1	54370394	54370394	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acctgaccttcatttatgttCaaatttgaccagttcaagag	6	9	3	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:54370394C>A	ENST00000361921.3	+	2	417	c.393C>A	c.(391-393)ttC>ttA	p.F131L	DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Missense_Mutation_p.F67L|DIO1_ENST00000524406.1_Missense_Mutation_p.F2L|DIO1_ENST00000322679.6_Missense_Mutation_p.F131L|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000534069.1_3'UTR	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	131					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						CATTTATGTTCAAATTTGACC	0.393													False	0	True	1:54370394	0	A	54370394	C	A	54370394	3	1	79	1	0	0	0	0	1	0	0	0	4554	825	29	3	399	3	DIO1	1	54370394	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5505210	54370394	194880227	15	6482											
HSPB11	51668	broad.mit.edu	37	chr1	54395724	54395724	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttaccaaagtaactttGgattacaagcctttcaatcc	5	10	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:54395724G>T	ENST00000194214.5	-	3	582	c.193C>A	c.(193-195)Caa>Aaa	p.Q65K	HSPB11_ENST00000371376.1_Missense_Mutation_p.Q65K|HSPB11_ENST00000371377.3_Missense_Mutation_p.Q65K|HSPB11_ENST00000371378.2_Missense_Mutation_p.Q65K	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	65					cell adhesion|response to stress					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						AAGTAACTTTGGATTACAAGC	0.318													False	0	True	1:54395724	0	T	54395724	G	T	54395724	3	4	79	1	0	0	0	0	1	0	0	0	7468	1357	47	3	257	3	HSPB11	1	54395724	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	25330	54395724	194854897	16	6483											
LEPR	3953	broad.mit.edu	37	chr1	66085628	66085628	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagatcattttatccccattGagaagtaccagttcagtctt	6	10	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:66085628G>T	ENST00000349533.6	+	17	2598	c.2413G>T	c.(2413-2415)Gag>Tag	p.E805*	LEPR_ENST00000371058.1_Nonsense_Mutation_p.E805*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E805*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	805	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCCCATTGAGAAGTACCA	0.279													False	0	False	1:66085628	0	T	66085628	G	T	66085628	4	4	79	1	0	0	0	0	0	1	0	0	8779	1291	45	3	2471	3	LEPR	1	66085628	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	11689904	66085628	183164993	17	6484											
DEPDC1	55635	broad.mit.edu	37	chr1	68944984	68944984	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagcacagcataacacacatCgagaaaaggtatgtatcatc	7	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:68944984C>A	ENST00000456315.2	-	10	2069	c.1955G>T	c.(1954-1956)cGa>cTa	p.R652L	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R368L|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	652	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TAACACACATCGAGAAAAGGT	0.333													False	0	False	1:68944984	0	A	68944984	C	A	68944984	3	1	79	1	0	0	0	0	1	0	0	0	4469	884	31	3	492	3	DEPDC1	1	68944984	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2859356	68944984	180305637	18	6485											
LPHN2	23266	broad.mit.edu	37	chr1	82436119	82436119	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtttttgaaagtgaatattCaaggaaaaaatattactatg	7	2	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:82436119C>A	ENST00000370728.1	+	18	3488	c.2843C>A	c.(2842-2844)tCa>tAa	p.S948*	LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S948*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S935*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S873*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S948*			O95490	LPHN2_HUMAN	latrophilin 2	948					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGTGAATATTCAAGGAAAAAA	0.388													False	0	False	1:82436119	0	A	82436119	C	A	82436119	4	1	79	1	0	0	0	0	0	1	0	0	8978	838	29	3	2854	3	LPHN2	1	82436119	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	13491135	82436119	166814502	19	6486											
HFM1	164045	broad.mit.edu	37	chr1	91816409	91816409	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatctctgcatttaaatgttCaataagatgtctgtgcaaac	6	7	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:91816409C>A	ENST00000370425.3	-	18	2190	c.2092G>T	c.(2092-2094)Gaa>Taa	p.E698*	HFM1_ENST00000370424.3_Nonsense_Mutation_p.E377*|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	698	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTAAATGTTCAATAAGATGT	0.308													False	0	False	1:91816409	0	A	91816409	C	A	91816409	4	1	79	1	0	0	0	0	0	1	0	0	7130	835	29	3	2303	3	HFM1	1	91816409	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9380290	91816409	157434212	20	6487											
ABCD3	5825	broad.mit.edu	37	chr1	94956786	94956786	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaatggagatgttttgatcCgagaccttaattttgaagta	9	5	0	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:94956786C>A	ENST00000370214.4	+	16	1393	c.1369C>A	c.(1369-1371)Cga>Aga	p.R457R	ABCD3_ENST00000454898.2_Silent_p.R481R|ABCD3_ENST00000536817.1_Silent_p.R384R|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Silent_p.R347R	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	457	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TGTTTTGATCCGAGACCTTAA	0.264													False	0	False	1:94956786	0	A	94956786	C	A	94956786	2	1	79	1	0	0	0	0	0	0	0	1	62	644	23	3		3	ABCD3	1	94956786	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3140377	94956786	154293835	21	6488											
DBT	1629	broad.mit.edu	37	chr1	100672084	100672084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagcccaatttctggaggcGgttcagttcagtggcgatgt	14	8	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:100672084G>T	ENST00000370132.4	-	9	1139	c.1126C>A	c.(1126-1128)Cgc>Agc	p.R376S		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2						branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	p.R376S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTCTGGAGGCGGTTCAGTTCA	0.423													False	0	True	1:100672084	0	T	100672084	G	T	100672084	3	4	79	1	0	0	0	0	1	0	0	0	4283	1116	39	3	334	3	DBT	1	100672084	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5715298	100672084	148578537	22	6489											
SLC30A7	148867	broad.mit.edu	37	chr1	101387303	101387303	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatacacttggaagtattGgtgtaattgcttctgccatc	9	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:101387303G>T	ENST00000370112.4	+	8	935	c.748G>T	c.(748-750)Ggt>Tgt	p.G250C	SLC30A7_ENST00000357650.4_Missense_Mutation_p.G250C	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	250					zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TGGAAGTATTGGTGTAATTGC	0.303													False	0	False	1:101387303	0	T	101387303	G	T	101387303	3	4	79	1	0	0	0	0	1	0	0	0	14640	1348	47	3	778	3	SLC30A7	1	101387303	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	715219	101387303	147863318	23	6490											
PTPN22	26191	broad.mit.edu	37	chr1	114380531	114380531	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatatggcagtgaataattCagttctgctgaagaaacatg	9	6	3	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:114380531C>A	ENST00000359785.5	-	13	1626	c.1491G>T	c.(1489-1491)ctG>ctT	p.L497L	PTPN22_ENST00000525799.1_Silent_p.L370L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Silent_p.L442L|PTPN22_ENST00000420377.2_Silent_p.L497L|PTPN22_ENST00000538253.1_Silent_p.L253L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	497					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGAATAATTCAGTTCTGCTG	0.363													False	0	False	1:114380531	0	A	114380531	C	A	114380531	2	1	79	1	0	0	0	0	0	0	0	1	12866	813	29	3		3	PTPN22	1	114380531	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	12993228	114380531	134870090	24	6491											
AP4B1	10717	broad.mit.edu	37	chr1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcaaaggtcccttgacccGcacaaggacatcagtttgta	9	11	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483													False	0	True	1:114442814	0	A	114442814	G	A	114442814	3	1	79	1	0	0	0	0	1	0	0	0	753	1086	38	1	1417	1	AP4B1	1	114442814	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	62283	114442814	134807807	25	6492											
CASQ2	845	broad.mit.edu	37	chr1	116243875	116243877	+	In_Frame_Del	DEL	TCG	TCG	-													agttgggctattcatcatcaTcgtcatcactgtcatcatta					rs7413162	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:116243875_116243877delTCG	ENST00000261448.5	-	11	1424_1426	c.1185_1187delCGA	c.(1183-1188)gacgat>gat	p.395_396DD>D	CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	395	Asp/Glu-rich (acidic).				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		Ttcatcatcatcgtcatcactgt	0.404													False	1	True	1:116243875	0	-	116243877	TCG	-	116243875	7	5	79	1	0	1	0	1	0	0	0	0	2701	1435	50	0	16	0	CASQ2	1	116243875	In_Frame_Del	DEL	TCG	TCGA-HZ-A77Q-01A-11D-A36O-08	1801061	116243875	133006746	26	6493											
SEC22B	9554	broad.mit.edu	37	chr1	145109678	145109678	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccgaccctattcctttattGaatttggtaagtttttgccc	6	11	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:145109678G>T	ENST00000453618.1	+	0	667							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TTCCTTTATTGAATTTGGTAA	0.383													False	0	False	1:145109678	0	T	145109678	G	T	145109678	1	4	79	0	1	0	0	0	0	0	0	0	14070	1291	45	3		3	SEC22B	1	145109678	RNA	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	28865803	145109678	104140943	27	6494											
GJA8	2703	broad.mit.edu	37	chr1	147381108	147381108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctgcagaggagggagcCgaacccgaggtgggagagaa	18	10	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:147381108C>T	ENST00000240986.4	+	2	1079	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	GJA8_ENST00000369235.1_Silent_p.A342A	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	342					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGGAGGGAGCCGAACCCGAGG	0.652													False	0	False	1:147381108	0	T	147381108	C	T	147381108	2	4	79	1	0	0	0	0	0	0	0	1	6450	639	23	1		1	GJA8	1	147381108	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2271430	147381108	101869513	28	6495											
TMOD4	29765	broad.mit.edu	37	chr1	151143009	151143009	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actcacgtagttcattgtttCgggtcatggcctgggctgcc	12	11	3	0	rs148198423		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:151143009C>A	ENST00000416280.2	-	7	893	c.794G>T	c.(793-795)cGa>cTa	p.R265L				Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	334					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCATTGTTTCGGGTCATGGC	0.537													False	0	True	1:151143009	0	A	151143009	C	A	151143009	3	1	79	1	0	0	0	0	1	0	0	0	16318	884	31	3	44	3	TMOD4	1	151143009	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3761901	151143009	98107612	29	6496											
FLG	2312	broad.mit.edu	37	chr1	152277569	152277569	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagcggtctgcagagtgccCgtgaccggctctgtcttcgt	15	12	3	2	rs144217264		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:152277569C>A	ENST00000368799.1	-	3	9828	c.9793G>T	c.(9793-9795)Ggg>Tgg	p.G3265W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3265	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGAGTGCCCGTGACCGGCT	0.582									Ichthyosis				False	0	True	1:152277569	0	A	152277569	C	A	152277569	3	1	79	1	0	0	0	0	1	0	0	0	5962	652	23	3	2396	3	FLG	1	152277569	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1134560	152277569	96973052	30	6497											
FLG	2312	broad.mit.edu	37	chr1	152278046	152278046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacgaatggtgtcctgacCgtattgggatgctgagtgcc	13	10	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:152278046C>A	ENST00000368799.1	-	3	9351	c.9316G>T	c.(9316-9318)Ggt>Tgt	p.G3106C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3106	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCCTGACCGTATTGGGAT	0.597									Ichthyosis				False	0	False	1:152278046	0	A	152278046	C	A	152278046	3	1	79	1	0	0	0	0	1	0	0	0	5962	652	23	3	2873	3	FLG	1	152278046	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	477	152278046	96972575	31	6498											
S100A7	6278	broad.mit.edu	37	chr1	153431438	153431438	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcacgtctggtgtatttgtGaaacatgtcgatcatgccta	9	8	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:153431438G>T	ENST00000368723.3	-	2	162	c.52C>A	c.(52-54)Cac>Aac	p.H18N	S100A7_ENST00000368722.1_Missense_Mutation_p.H18N	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	18	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGTATTTGTGAAACATGTCG	0.438													False	0	True	1:153431438	0	T	153431438	G	T	153431438	3	4	79	1	0	0	0	0	1	0	0	0	13862	1290	45	3	261	3	S100A7	1	153431438	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1153392	153431438	95819183	32	6499											
ASH1L	55870	broad.mit.edu	37	chr1	155448756	155448756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgacttcgatgagtgatcCgaatttcacttaggcgactt	10	8	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:155448756C>A	ENST00000368346.3	-	3	4544	c.3905G>T	c.(3904-3906)cGg>cTg	p.R1302L	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1302L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1302					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGAGTGATCCGAATTTCACT	0.393													False	0	False	1:155448756	0	A	155448756	C	A	155448756	3	1	79	1	0	0	0	0	1	0	0	0	1045	652	23	3	5093	3	ASH1L	1	155448756	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2017318	155448756	93801865	33	6500											
DCAF6	55827	broad.mit.edu	37	chr1	167921055	167921055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggaagaagagaatttatcCaaagattaaaacttgaagca	8	5	0	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:167921055C>A	ENST00000367840.3	+	2	209	c.115C>A	c.(115-117)Caa>Aaa	p.Q39K	DCAF6_ENST00000432587.2_Missense_Mutation_p.Q39K|DCAF6_ENST00000312263.6_Missense_Mutation_p.Q39K|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Missense_Mutation_p.Q39K	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	39					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGAATTTATCCAAAGATTAAA	0.303													False	0	True	1:167921055	0	A	167921055	C	A	167921055	3	1	79	1	0	0	0	0	1	0	0	0	4299	595	21	3	121	3	DCAF6	1	167921055	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	12472299	167921055	81329566	34	6501											
SEC16B	89866	broad.mit.edu	37	chr1	177913756	177913756	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacagtactcgaagatttcCgtcctctggattgcctcagt	9	11	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:177913756C>A	ENST00000308284.6	-	15	1910	c.1821G>T	c.(1819-1821)acG>acT	p.T607T	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	607					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.T608T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGAAGATTTCCGTCCTCTGGA	0.483													False	0	False	1:177913756	0	A	177913756	C	A	177913756	2	1	79	1	0	0	0	0	0	0	0	1	14068	639	23	3		3	SEC16B	1	177913756	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9992701	177913756	71336865	35	6502											
FAM129A	116496	broad.mit.edu	37	chr1	184777291	184777291	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttgagatcctgcaggcgctCgtgaagcaggttgactttag	13	9	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:184777291C>A	ENST00000367511.3	-	10	1445	c.1252G>T	c.(1252-1254)Gag>Tag	p.E418*	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	418					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGCAGGCGCTCGTGAAGCAGG	0.517													False	0	False	1:184777291	0	A	184777291	C	A	184777291	4	1	79	1	0	0	0	0	0	1	0	0	5472	893	31	3	1554	3	FAM129A	1	184777291	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6863535	184777291	64473330	36	6503											
ASPM	259266	broad.mit.edu	37	chr1	197062302	197062302	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctcgtatatatttttgtatGatcaaagcagcagatttctg	8	6	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:197062302G>T	ENST00000367409.4	-	21	9430	c.9174C>A	c.(9172-9174)atC>atA	p.I3058I	ASPM_ENST00000294732.7_Silent_p.I1473I|ASPM_ENST00000367408.1_Silent_p.I723I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3058	IQ 36.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTTTTGTATGATCAAAGCAG	0.383													False	0	False	1:197062302	0	T	197062302	G	T	197062302	2	4	79	1	0	0	0	0	0	0	0	1	1060	1280	45	3		3	ASPM	1	197062302	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	12285011	197062302	52188319	37	6504											
ASPM	259266	broad.mit.edu	37	chr1	197086945	197086945	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtgatgctgctttattttGaactttttccagcttttcct	6	8	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:197086945G>T	ENST00000367409.4	-	17	4295	c.4039C>A	c.(4039-4041)Caa>Aaa	p.Q1347K	ASPM_ENST00000294732.7_Missense_Mutation_p.Q1347K|ASPM_ENST00000367408.1_Missense_Mutation_p.Q597K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1347	IQ 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTTTATTTTGAACTTTTTCC	0.289													False	0	True	1:197086945	0	T	197086945	G	T	197086945	3	4	79	1	0	0	0	0	1	0	0	0	1060	1299	45	3	6442	3	ASPM	1	197086945	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	24643	197086945	52163676	38	6505											
CACNA1S	779	broad.mit.edu	37	chr1	201019522	201019522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagattggactcacttagcCtctgggtcatactctgccca	8	13	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:201019522C>T	ENST00000362061.3	-	34	4462	c.4236G>A	c.(4234-4236)gaG>gaA	p.E1412E	CACNA1S_ENST00000367338.3_Silent_p.E1393E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1412					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCACTTAGCCTCTGGGTCAT	0.532													False	0	False	1:201019522	0	T	201019522	C	T	201019522	2	4	79	1	0	0	0	0	0	0	0	1	2567	680	24	2		2	CACNA1S	1	201019522	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3932577	201019522	48231099	39	6506											
RCOR3	55758	broad.mit.edu	37	chr1	211469083	211469083	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaggtggaattgaagaattCaaacctcctgaggtatgtta	11	5	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:211469083C>A	ENST00000367005.4	+	8	972	c.831C>A	c.(829-831)ttC>ttA	p.F277L	RCOR3_ENST00000367006.4_Missense_Mutation_p.F335L|RCOR3_ENST00000452621.2_Missense_Mutation_p.F335L|RCOR3_ENST00000419091.2_Missense_Mutation_p.F335L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TTGAAGAATTCAAACCTCCTG	0.353													False	0	True	1:211469083	0	A	211469083	C	A	211469083	3	1	79	1	0	0	0	0	1	0	0	0	13263	825	29	3	1039	3	RCOR3	1	211469083	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	10449561	211469083	37781538	40	6507											
FLVCR1	28982	broad.mit.edu	37	chr1	213061865	213061865	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttacctccctttgggttttGaatttgctgttgaaatcact	8	8	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:213061865G>T	ENST00000366971.4	+	7	1540	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	448					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTTGGGTTTTGAATTTGCTGT	0.383													False	0	True	1:213061865	0	T	213061865	G	T	213061865	4	4	79	1	0	0	0	0	0	1	0	0	5985	1291	45	3	1368	3	FLVCR1	1	213061865	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1592782	213061865	36188756	41	6508											
URB2	9816	broad.mit.edu	37	chr1	229763469	229763469	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaactagctcactttgcttGgatttctcaccagtgctttc	6	11	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:229763469G>T	ENST00000258243.2	+	2	225	c.89G>T	c.(88-90)tGg>tTg	p.W30L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	30						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CACTTTGCTTGGATTTCTCAC	0.338													False	0	False	1:229763469	0	T	229763469	G	T	229763469	3	4	79	1	0	0	0	0	1	0	0	0	17109	1357	47	3	91	3	URB2	1	229763469	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	16701604	229763469	19487152	42	6509											
LYST	1130	broad.mit.edu	37	chr1	235866228	235866228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttatcatggtttctagcgctCgtctctgaactggatcttca	8	10	5	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:235866228C>A	ENST00000389794.3	-	45	10367	c.10193G>T	c.(10192-10194)cGa>cTa	p.R3398L	LYST_ENST00000389793.2_Missense_Mutation_p.R3398L|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3398	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTAGCGCTCGTCTCTGAAC	0.453													False	0	False	1:235866228	0	A	235866228	C	A	235866228	3	1	79	1	0	0	0	0	1	0	0	0	9191	884	31	3	1248	3	LYST	1	235866228	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6102759	235866228	13384393	43	6510											
TPO	7173	broad.mit.edu	37	chr2	1497610	1497610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttctgcggcctgcctcGcctggagacccccgctgacc	13	17	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:1497610G>A	ENST00000345913.4	+	11	1896	c.1805G>A	c.(1804-1806)cGc>cAc	p.R602H	TPO_ENST00000382201.3_Missense_Mutation_p.R545H|TPO_ENST00000382198.1_Missense_Mutation_p.R429H|TPO_ENST00000337415.3_Missense_Mutation_p.R602H|TPO_ENST00000346956.3_Missense_Mutation_p.R602H|TPO_ENST00000349624.3_Missense_Mutation_p.R429H|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000329066.4_Missense_Mutation_p.R602H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	602					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCTGCCTCGCCTGGAGACC	0.577													False	0	False	2:1497610	0	A	1497610	G	A	1497610	3	1	79	1	0	0	0	0	1	0	0	0	16493	1087	38	1	1843	1	TPO	2	1497610	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		1497610	241701763	44	6511											
GEN1	348654	broad.mit.edu	37	chr2	17959283	17959283	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttcagaattgttaagactcGaatcagaaatggagttcatt	8	5	3	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:17959283G>T	ENST00000381254.2	+	12	1431	c.1217G>T	c.(1216-1218)cGa>cTa	p.R406L	GEN1_ENST00000317402.7_Missense_Mutation_p.R406L|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	406					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTAAGACTCGAATCAGAAAT	0.274								Homologous recombination					False	0	False	2:17959283	0	T	17959283	G	T	17959283	3	4	79	1	0	0	0	0	1	0	0	0	6380	1058	37	3	1259	3	GEN1	2	17959283	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	16461673	17959283	225240090	45	6512											
RASGRP3	25780	broad.mit.edu	37	chr2	33745672	33745672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atttggatcttggtttgattCgtatgactgaggaatttcgg	12	4	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:33745672C>A	ENST00000403687.3	+	6	1029	c.289C>A	c.(289-291)Cgt>Agt	p.R97S	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R97S|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R97S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	97	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	p.R97S(2)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGTTTGATTCGTATGACTGA	0.423													False	0	False	2:33745672	0	A	33745672	C	A	33745672	3	1	79	1	0	0	0	0	1	0	0	0	13155	884	31	3	303	3	RASGRP3	2	33745672	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	15786389	33745672	209453701	46	6513											
PLEKHH2	130271	broad.mit.edu	37	chr2	43924402	43924402	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctttgggtgctttttatctCgagcaaggagtcctcctcaa	9	11	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:43924402C>A	ENST00000282406.4	+	7	705	c.595C>A	c.(595-597)Cga>Aga	p.R199R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	199						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTTTTATCTCGAGCAAGGAG	0.428													False	0	False	2:43924402	0	A	43924402	C	A	43924402	2	1	79	1	0	0	0	0	0	0	0	1	12146	876	31	3		3	PLEKHH2	2	43924402	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	10178730	43924402	199274971	47	6514											
SRBD1	55133	broad.mit.edu	37	chr2	45826684	45826684	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaggatatgtctcagtcttGattttctttaaagcggactg	10	6	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:45826684G>T	ENST00000263736.4	-	4	614	c.552C>A	c.(550-552)atC>atA	p.I184I		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	184					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCTCAGTCTTGATTTTCTTTA	0.448													False	0	False	2:45826684	0	T	45826684	G	T	45826684	2	4	79	1	0	0	0	0	0	0	0	1	15215	1280	45	3		3	SRBD1	2	45826684	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1902282	45826684	197372689	48	6515											
NRXN1	9378	broad.mit.edu	37	chr2	50765565	50765565	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaacttcagccatttgccGgatatctttgctttggccat	8	10	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:50765565G>T	ENST00000404971.1	-	11	3428	c.2089C>A	c.(2089-2091)Cgg>Agg	p.R697R	NRXN1_ENST00000406316.2_Silent_p.R657R|NRXN1_ENST00000401669.2_Silent_p.R657R|NRXN1_ENST00000402717.3_Silent_p.R649R|NRXN1_ENST00000405472.3_Silent_p.R649R|NRXN1_ENST00000406859.3_Silent_p.R657R|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	657	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCATTTGCCGGATATCTTTG	0.502													False	0	False	2:50765565	0	T	50765565	G	T	50765565	2	4	79	1	0	0	0	0	0	0	0	1	10733	1115	39	3		3	NRXN1	2	50765565	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4938881	50765565	192433808	49	6516											
CCDC85A	114800	broad.mit.edu	37	chr2	56419683	56419683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcctggatgatgaccgGcagaaaggcaagagggtgtc	15	7	0	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:56419683G>A	ENST00000407595.2	+	2	850	c.348G>A	c.(346-348)cgG>cgA	p.R116R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	116										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATGATGACCGGCAGAAAGGCA	0.532													False	0	False	2:56419683	0	A	56419683	G	A	56419683	2	1	79	1	0	0	0	0	0	0	0	1	2880	1190	42	2		2	CCDC85A	2	56419683	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5654118	56419683	186779690	50	6517											
AHSA2	130872	broad.mit.edu	37	chr2	61412663	61412663	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatctccagtggcactGggtgtaaggattcccactgt	11	12	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:61412663G>T	ENST00000394457.3	+	4	1845	c.102G>T	c.(100-102)ctG>ctT	p.L34L	AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000357022.2_Silent_p.L34L|AHSA2_ENST00000410073.1_Silent_p.L34L			Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)						response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			CAGTGGCACTGGGTGTAAGGA	0.458													False	0	True	2:61412663	0	T	61412663	G	T	61412663	2	4	79	1	0	0	0	0	0	0	0	1	419	1335	47	3		3	AHSA2	2	61412663	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4992980	61412663	181786710	51	6518											
PCYOX1	51449	broad.mit.edu	37	chr2	70502134	70502134	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actatgccttcagtagtgtcGaaaaattacttcatgctcta	6	9	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:70502134G>T	ENST00000433351.2	+	4	566	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	PCYOX1_ENST00000264441.5_Nonsense_Mutation_p.E180*|PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.E103*|PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.E102*	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	180					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAGTAGTGTCGAAAAATTACT	0.423													False	0	True	2:70502134	0	T	70502134	G	T	70502134	4	4	79	1	0	0	0	0	0	1	0	0	11676	1059	37	3	552	3	PCYOX1	2	70502134	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	9089471	70502134	172697239	52	6519											
MPHOSPH10	10199	broad.mit.edu	37	chr2	71368410	71368410	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacctaaagaggatgcatatGaatataaaaagcgtttaacc	7	6	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:71368410G>T	ENST00000244230.2	+	7	1709	c.1357G>T	c.(1357-1359)Gaa>Taa	p.E453*		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	453					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GGATGCATATGAATATAAAAA	0.363													False	0	False	2:71368410	0	T	71368410	G	T	71368410	4	4	79	1	0	0	0	0	0	1	0	0	9792	1291	45	3	1383	3	MPHOSPH10	2	71368410	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	866276	71368410	171830963	53	6520											
MRPL35	51318	broad.mit.edu	37	chr2	86433238	86433238	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatctttacaggaatcctacGgcccctgaatattttggcat	7	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:86433238G>T	ENST00000337109.4	+	2	87	c.53G>T	c.(52-54)cGg>cTg	p.R18L	MRPL35_ENST00000605125.1_Missense_Mutation_p.R18L|MRPL35_ENST00000254644.8_Missense_Mutation_p.R18L|MRPL35_ENST00000409180.1_Missense_Mutation_p.R18L	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	18					translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GGAATCCTACGGCCCCTGAAT	0.368													False	0	False	2:86433238	0	T	86433238	G	T	86433238	3	4	79	1	0	0	0	0	1	0	0	0	9865	1116	39	3	59	3	MRPL35	2	86433238	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	15064828	86433238	156766135	54	6521											
TEKT4	150483	broad.mit.edu	37	chr2	95541370	95541370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcaggaacacaacgtggCggcactgaagcaggccatca	12	11	2	2	rs112344899	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:95541370C>T	ENST00000295201.4	+	5	1111	c.974C>T	c.(973-975)gCg>gTg	p.A325V	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	325					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CACAACGTGGCGGCACTGAAG	0.607													False	0	False	2:95541370	0	T	95541370	C	T	95541370	3	4	79	1	0	0	0	0	1	0	0	0	15837	768	27	1	992	1	TEKT4	2	95541370	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9108132	95541370	147658003	55	6522											
ANKRD36B	57730	broad.mit.edu	37	chr2	98177188	98177188	+	RNA	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atttgaaacagaatctttgtCgtcacttgtagcctgaatgg	9	7	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:98177188C>A	ENST00000443455.1	-	0	915							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		GAATCTTTGTCGTCACTTGTA	0.323													False	0	False	2:98177188	0	A	98177188	C	A	98177188	1	1	79	0	1	0	0	0	0	0	0	0	666	884	31	3		3	ANKRD36B	2	98177188	RNA	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2635818	98177188	145022185	56	6523											
MKI67IP	0	broad.mit.edu	37	chr2	122488581	122488581	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgttagtgtccgattcCgattataccgtttcactgat	8	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:122488581C>A	ENST00000285814.4	-	4	524	c.452G>T	c.(451-453)cGg>cTg	p.R151L		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		151					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.R151L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TGTCCGATTCCGATTATACCG	0.353													False	0	True	2:122488581	0	A	122488581	C	A	122488581	3	1	79	1	0	0	0	0	1	0	0	0	9666	652	23	3	445	3	MKI67IP	2	122488581	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	24311393	122488581	120710792	57	6524											
LRP1B	53353	broad.mit.edu	37	chr2	141816539	141816539	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatatcagtcccattaaatcGgtttatccttacgatattgt	5	8	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:141816539G>T	ENST00000389484.3	-	9	2292	c.1321C>A	c.(1321-1323)Cga>Aga	p.R441R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	441					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTAAATCGGTTTATCCTT	0.328										TSP Lung(27;0.18)			False	0	False	2:141816539	0	T	141816539	G	T	141816539	2	4	79	1	0	0	0	0	0	0	0	1	9017	1124	39	3		3	LRP1B	2	141816539	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	19327958	141816539	101382834	58	6525											
LRP1B	53353	broad.mit.edu	37	chr2	141946086	141946086	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaattacaaacaaagatcCggtcaccgacatggtccaca	8	11	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:141946086C>A	ENST00000389484.3	-	7	1888	c.917G>T	c.(916-918)cGg>cTg	p.R306L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	306					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R306Q(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACAAAGATCCGGTCACCGAC	0.413										TSP Lung(27;0.18)			False	0	False	2:141946086	0	A	141946086	C	A	141946086	3	1	79	1	0	0	0	0	1	0	0	0	9017	652	23	3	13222	3	LRP1B	2	141946086	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	129547	141946086	101253287	59	6526											
ARHGAP15	55843	broad.mit.edu	37	chr2	144314047	144314047	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagaagttaagatttattgtCaaccaaggtaagtgatttcc	8	6	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:144314047C>A	ENST00000295095.6	+	11	1163	c.996C>A	c.(994-996)gtC>gtA	p.V332V	RP11-570L15.2_ENST00000546678.1_RNA|RP11-570L15.1_ENST00000553076.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	332	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATTTATTGTCAACCAAGGTA	0.318													False	0	False	2:144314047	0	A	144314047	C	A	144314047	2	1	79	1	0	0	0	0	0	0	0	1	868	813	29	3		3	ARHGAP15	2	144314047	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2367961	144314047	98885326	60	6527											
NEB	4703	broad.mit.edu	37	chr2	152420173	152420173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccacaccagggaattcacCgatcacttttccagccaggt	7	14	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:152420173C>A	ENST00000397345.3	-	119	18842	c.18640G>T	c.(18640-18642)Ggt>Tgt	p.G6214C	NEB_ENST00000427231.2_Missense_Mutation_p.G6214C|NEB_ENST00000603639.1_Missense_Mutation_p.G6214C|NEB_ENST00000409198.1_Missense_Mutation_p.G4513C|NEB_ENST00000604864.1_Missense_Mutation_p.G6214C|NEB_ENST00000172853.10_Missense_Mutation_p.G4513C	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	6196					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGAATTCACCGATCACTTTT	0.438													False	0	False	2:152420173	0	A	152420173	C	A	152420173	3	1	79	1	0	0	0	0	1	0	0	0	10370	652	23	3	7302	3	NEB	2	152420173	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8106126	152420173	90779200	61	6528											
NEB	4703	broad.mit.edu	37	chr2	152484296	152484296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggtcatcttcaatgttcCgggctccaatgtggtggccg	14	10	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:152484296C>A	ENST00000397345.3	-	69	10086	c.9884G>T	c.(9883-9885)cGg>cTg	p.R3295L	NEB_ENST00000427231.2_Missense_Mutation_p.R3295L|NEB_ENST00000603639.1_Missense_Mutation_p.R3295L|NEB_ENST00000409198.1_Missense_Mutation_p.R3052L|NEB_ENST00000604864.1_Missense_Mutation_p.R3295L|NEB_ENST00000172853.10_Missense_Mutation_p.R3052L	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	3295					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCAATGTTCCGGGCTCCAAT	0.438													False	0	True	2:152484296	0	A	152484296	C	A	152484296	3	1	79	1	0	0	0	0	1	0	0	0	10370	652	23	3	16258	3	NEB	2	152484296	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	64123	152484296	90715077	62	6529											
MARCH7	64844	broad.mit.edu	37	chr2	160605292	160605292	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacttgggagtaatttgacCgacaatgtcatgatcacagt	10	8	2	2	rs149881046	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:160605292C>A	ENST00000259050.4	+	5	1613	c.1491C>A	c.(1489-1491)acC>acA	p.T497T	MARCH7_ENST00000409175.1_Silent_p.T497T|MARCH7_ENST00000409591.1_Silent_p.T459T|MARCH7_ENST00000539065.1_Silent_p.T441T	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase								ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GTAATTTGACCGACAATGTCA	0.423													False	0	False	2:160605292	0	A	160605292	C	A	160605292	2	1	79	1	0	0	0	0	0	0	0	1	9373	639	23	3		3	MARCH7	2	160605292	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8120996	160605292	82594081	63	6530											
SCN9A	6335	broad.mit.edu	37	chr2	167083091	167083091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttatcttctttttctgttGgttgaaattatctatgatga	6	5	4	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:167083091G>T	ENST00000303354.6	-	24	4727	c.4387C>A	c.(4387-4389)Caa>Aaa	p.Q1463K	SCN9A_ENST00000409435.1_Missense_Mutation_p.Q1462K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q1451K|SCN9A_ENST00000375387.4_Missense_Mutation_p.Q1463K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1462						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTTTCTGTTGGTTGAAATTA	0.264													False	0	True	2:167083091	0	T	167083091	G	T	167083091	3	4	79	1	0	0	0	0	1	0	0	0	14006	1357	47	3	1598	3	SCN9A	2	167083091	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6477799	167083091	76116282	64	6531											
SLC25A12	8604	broad.mit.edu	37	chr2	172712428	172712428	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggagcacataaaacagattCaaatgccaaaaactcttgat	6	8	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:172712428C>A	ENST00000422440.2	-	4	278	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	SLC25A12_ENST00000392592.4_Intron|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	81					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAAACAGATTCAAATGCCAAA	0.388													False	0	True	2:172712428	0	A	172712428	C	A	172712428	4	1	79	1	0	0	0	0	0	1	0	0	14554	835	29	3	1855	3	SLC25A12	2	172712428	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5629337	172712428	70486945	65	6532											
TTN	7273	broad.mit.edu	37	chr2	179480172	179480172	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agaagatgctattggctgttCgatctctccatttaacattc	7	9	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:179480172C>A	ENST00000589042.1	-	259	48724	c.48500G>T	c.(48499-48501)cGa>cTa	p.R16167L	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7227L|TTN_ENST00000591111.1_Missense_Mutation_p.R14526L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13599L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7294L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7102L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14526	Fibronectin type-III 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGGCTGTTCGATCTCTCCA	0.433													False	0	False	2:179480172	0	A	179480172	C	A	179480172	3	1	79	1	0	0	0	0	1	0	0	0	16819	884	31	3	59609	3	TTN	2	179480172	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6767744	179480172	63719201	66	6533											
UBE2E3	10477	broad.mit.edu	37	chr2	181922476	181922476	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcaactatacttggtccacCgggttctgtatatgaaggtg	10	8	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:181922476C>A	ENST00000410062.4	+	4	695	c.302C>A	c.(301-303)cCg>cAg	p.P101Q	UBE2E3_ENST00000602710.1_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602959.1_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000392415.2_Missense_Mutation_p.P101Q	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	101				P -> L (in Ref. 3; AAP97266).	protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						CTTGGTCCACCGGGTTCTGTA	0.343													False	0	True	2:181922476	0	A	181922476	C	A	181922476	3	1	79	1	0	0	0	0	1	0	0	0	16938	652	23	3	312	3	UBE2E3	2	181922476	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2442304	181922476	61276897	67	6534											
DNAJC10	54431	broad.mit.edu	37	chr2	183622482	183622482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtatcattctttttgtgccCaggaaaacgttcaaagatac	7	8	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:183622482C>A	ENST00000264065.7	+	19	2288	c.1873C>A	c.(1873-1875)Cag>Aag	p.Q625K		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10		Thioredoxin 3.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTTTGTGCCCAGGAAAACGT	0.333													False	0	True	2:183622482	0	A	183622482	C	A	183622482	3	1	79	1	0	0	0	0	1	0	0	0	4659	595	21	3	1939	3	DNAJC10	2	183622482	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1700006	183622482	59576891	68	6535											
COL3A1	1281	broad.mit.edu	37	chr2	189858794	189858794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggattaatggtagtcctggtGgtaaaggcgaaatggtaagc	15	4	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:189858794G>T	ENST00000304636.3	+	17	1350	c.1180G>T	c.(1180-1182)Ggt>Tgt	p.G394C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G394C	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	394	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TAGTCCTGGTGGTAAAGGCGA	0.373													False	0	False	2:189858794	0	T	189858794	G	T	189858794	3	4	79	1	0	0	0	0	1	0	0	0	3711	1348	47	3	1246	3	COL3A1	2	189858794	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6236312	189858794	53340579	69	6536											
STAT4	6775	broad.mit.edu	37	chr2	191898700	191898700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atattgcttcaagccatgtcCaaaaggtaaatgatttacca	6	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:191898700C>A	ENST00000392320.2	-	19	1966	c.1652G>T	c.(1651-1653)tGg>tTg	p.W551L	STAT4_ENST00000358470.4_Missense_Mutation_p.W551L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	551					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGCCATGTCCAAAAGGTAAA	0.289													False	0	True	2:191898700	0	A	191898700	C	A	191898700	3	1	79	1	0	0	0	0	1	0	0	0	15349	595	21	3	618	3	STAT4	2	191898700	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2039906	191898700	51300673	70	6537											
DNAH7	56171	broad.mit.edu	37	chr2	196825552	196825552	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctatagttgctgctaaattCgacagcagtttcataaagac	7	8	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:196825552C>A	ENST00000312428.6	-	18	2423	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	775	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCTAAATTCGACAGCAGTT	0.393													False	0	False	2:196825552	0	A	196825552	C	A	196825552	4	1	79	1	0	0	0	0	0	1	0	0	4636	893	31	3	9943	3	DNAH7	2	196825552	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4926852	196825552	46373821	71	6538											
HECW2	57520	broad.mit.edu	37	chr2	197090556	197090556	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catccaacaaatactggtgtAttagtgcaagaccaaggatc	8	9	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:197090556A>G	ENST00000260983.3	-	23	4138	c.3956T>C	c.(3955-3957)aTa>aCa	p.I1319T	HECW2_ENST00000409111.1_Missense_Mutation_p.I963T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATACTGGTGTATTAGTGCAAG	0.403													False	0	False	2:197090556	0	G	197090556	A	G	197090556	3	3	79	1	0	0	0	0	1	0	0	0	7090	449	16	4	790	4	HECW2	2	197090556	Missense_Mutation	SNP	A	TCGA-HZ-A77Q-01A-11D-A36O-08	265004	197090556	46108817	72	6539											
COQ10B	80219	broad.mit.edu	37	chr2	198338490	198338490	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttcctacagatttcttttGaatttcgatcacttctacat	3	9	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:198338490G>T	ENST00000263960.2	+	5	697	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	COQ10B_ENST00000409010.1_Nonsense_Mutation_p.E159*|COQ10B_ENST00000409398.1_Nonsense_Mutation_p.E137*|COQ10B_ENST00000545340.1_Nonsense_Mutation_p.E144*	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	187						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATTTCTTTTGAATTTCGATC	0.333													False	0	True	2:198338490	0	T	198338490	G	T	198338490	4	4	79	1	0	0	0	0	0	1	0	0	3767	1291	45	3	577	3	COQ10B	2	198338490	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1247934	198338490	44860883	73	6540											
AOX1	316	broad.mit.edu	37	chr2	201534342	201534342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctggggtgttccgtgtttttCgctatccatgacgcagtgag	13	9	0	2	rs150685936	by1000genomes	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:201534342C>A	ENST00000374700.2	+	34	4084	c.3843C>A	c.(3841-3843)ttC>ttA	p.F1281L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1281					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCGTGTTTTTCGCTATCCATG	0.522													False	0	True	2:201534342	0	A	201534342	C	A	201534342	3	1	79	1	0	0	0	0	1	0	0	0	731	883	31	3	3977	3	AOX1	2	201534342	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3195852	201534342	41665031	74	6541											
NIF3L1	60491	broad.mit.edu	37	chr2	201760066	201760066	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtagattttctttccCggaacaaacaactttatcag	8	8	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:201760066C>A	ENST00000409020.1	+	4	973	c.679C>A	c.(679-681)Cgg>Agg	p.R227R	NIF3L1_ENST00000359683.4_Silent_p.R200R|NIF3L1_ENST00000409357.1_Silent_p.R227R|NIF3L1_ENST00000416651.1_Silent_p.R227R|NIF3L1_ENST00000409588.1_Silent_p.R227R			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	227					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TTTTCTTTCCCGGAACAAACA	0.373													False	0	True	2:201760066	0	A	201760066	C	A	201760066	2	1	79	1	0	0	0	0	0	0	0	1	10484	643	23	3		3	NIF3L1	2	201760066	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	225724	201760066	41439307	75	6542											
CYP20A1	57404	broad.mit.edu	37	chr2	204137450	204137450	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacttgataaaaacatgactCggaaaaaacaatatgaagat	6	6	0	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:204137450C>A	ENST00000356079.4	+	6	781	c.658C>A	c.(658-660)Cgg>Agg	p.R220R	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Silent_p.R228R	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	220						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						AAACATGACTCGGAAAAAACA	0.313													False	0	False	2:204137450	0	A	204137450	C	A	204137450	2	1	79	1	0	0	0	0	0	0	0	1	4177	875	31	3		3	CYP20A1	2	204137450	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2377384	204137450	39061923	76	6543											
MDH1B	130752	broad.mit.edu	37	chr2	207622074	207622074	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgactccacttattcttttCacacacatcttttagccaat	3	12	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:207622074C>A	ENST00000374412.3	-	3	432	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	MDH1B_ENST00000392214.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000454776.2_Nonsense_Mutation_p.E53*	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	53					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTATTCTTTTCACACACATCT	0.373													False	0	True	2:207622074	0	A	207622074	C	A	207622074	4	1	79	1	0	0	0	0	0	1	0	0	9476	835	29	3	1439	3	MDH1B	2	207622074	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3484624	207622074	35577299	77	6544											
PIKFYVE	200576	broad.mit.edu	37	chr2	209216171	209216171	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attatattacaaatgctgttCaacaaaaggtagaaatctaa	5	5	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:209216171C>A	ENST00000264380.4	+	38	5865	c.5707C>A	c.(5707-5709)Caa>Aaa	p.Q1903K		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1903	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAATGCTGTTCAACAAAAGGT	0.348													False	0	False	2:209216171	0	A	209216171	C	A	209216171	3	1	79	1	0	0	0	0	1	0	0	0	11993	827	29	3	5864	3	PIKFYVE	2	209216171	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1594097	209216171	33983202	78	6545											
USP37	57695	broad.mit.edu	37	chr2	219411667	219411667	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttctagcaaccctgatctaaGaggtgttgaagtagatgtca	10	7	3	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:219411667G>C	ENST00000258399.3	-	7	989	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	USP37_ENST00000338465.5_Missense_Mutation_p.L193V|USP37_ENST00000415516.1_Missense_Mutation_p.L121V|USP37_ENST00000418019.1_Missense_Mutation_p.L193V|USP37_ENST00000454775.1_Missense_Mutation_p.L193V	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	193					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTGATCTAAGAGGTGTTGAA	0.398													False	0	False	2:219411667	0	C	219411667	G	C	219411667	3	2	79	1	0	0	0	0	1	0	0	0	17152	942	33	5	2442	5	USP37	2	219411667	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	10195496	219411667	23787706	79	6546											
PTPRN	5798	broad.mit.edu	37	chr2	220172205	220172205	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcacaccttgtaagcgttGgagaactggggaggtgactt	15	7	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220172205G>A	ENST00000295718.2	-	3	481	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	PTPRN_ENST00000423636.2_5'UTR|PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q81*	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	81					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGTAAGCGTTGGAGAACTGGG	0.557													False	0	False	2:220172205	0	A	220172205	G	A	220172205	4	1	79	1	0	0	0	0	0	1	0	0	12886	1357	47	2	2782	2	PTPRN	2	220172205	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	760538	220172205	23027168	80	6547											
TMEM198	130612	broad.mit.edu	37	chr2	220412305	220412305	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttcctcctctgctacCgagagcgggtgctagagaca	10	13	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220412305C>A	ENST00000344458.2	+	4	829	c.244C>A	c.(244-246)Cga>Aga	p.R82R	RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Silent_p.R82R			Q66K66	TM198_HUMAN	transmembrane protein 198	82	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCTCTGCTACCGAGAGCGGGT	0.632													False	0	False	2:220412305	0	A	220412305	C	A	220412305	2	1	79	1	0	0	0	0	0	0	0	1	16201	644	23	3		3	TMEM198	2	220412305	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	240100	220412305	22787068	81	6548											
SLC19A3	80704	broad.mit.edu	37	chr2	228564041	228564041	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtagtgctcggggctgacCacgctgtatatgtaggcgta	15	8	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:228564041C>A	ENST00000258403.3	-	3	461	c.390G>T	c.(388-390)gtG>gtT	p.V130V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.V126V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	130					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CGGGGCTGACCACGCTGTATA	0.587													False	0	False	2:228564041	0	A	228564041	C	A	228564041	2	1	79	1	0	0	0	0	0	0	0	1	14511	581	21	3		3	SLC19A3	2	228564041	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8151736	228564041	14635332	82	6549											
FANCD2	2177	broad.mit.edu	37	chr3	10123132	10123132	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaggctgctgcagatttttCatgggctttttgcttggtaa	12	6	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:10123132C>A	ENST00000287647.3	+	32	3301	c.3208C>A	c.(3208-3210)Cat>Aat	p.H1070N	FANCD2_ENST00000419585.1_Missense_Mutation_p.H1070N|FANCD2_ENST00000383807.1_Missense_Mutation_p.H1070N|FANCD2_ENST00000383806.1_Missense_Mutation_p.H1070N|FANCD2OS_ENST00000524279.1_3'UTR|FANCD2OS_ENST00000436517.1_5'UTR	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1070					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAGATTTTTCATGGGCTTTT	0.423			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	True	3:10123132	0	A	10123132	C	A	10123132	3	1	79	1	0	0	0	0	1	0	0	0	5705	826	29	3	3330	3	FANCD2	3	10123132	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		10123132	187899298	83	6550											
SLC4A7	9497	broad.mit.edu	37	chr3	27439802	27439802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatataaggtccatgatgacCacaagctgaccccaagaata	7	10	0	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:27439802C>A	ENST00000295736.5	-	17	2513	c.2443G>T	c.(2443-2445)Ggt>Tgt	p.G815C	SLC4A7_ENST00000435667.2_Missense_Mutation_p.G700C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G824C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G365C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G807C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G691C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G696C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	815						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CCATGATGACCACAAGCTGAC	0.363													False	0	False	3:27439802	0	A	27439802	C	A	27439802	3	1	79	1	0	0	0	0	1	0	0	0	14738	594	21	3	1237	3	SLC4A7	3	27439802	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	17316670	27439802	170582628	84	6551											
ZNF502	91392	broad.mit.edu	37	chr3	44763222	44763222	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgaatgtggctcttcttttCgaaaacactcaaatcttacg	7	9	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000436624.2_Silent_p.R305R|ZNF502_ENST00000449836.1_Silent_p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTCTTCTTTTCGAAAACACTC	0.408													False	0	True	3:44763222	0	A	44763222	C	A	44763222	2	1	79	1	0	0	0	0	0	0	0	1	18033	876	31	3		3	ZNF502	3	44763222	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	17323420	44763222	153259208	85	6552											
XCR1	2829	broad.mit.edu	37	chr3	46062772	46062772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgaagatgagcttgaccGtgcggtggcgccgcttggag	18	9	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:46062772G>A	ENST00000309285.3	-	2	1024	c.668C>T	c.(667-669)aCg>aTg	p.T223M	XCR1_ENST00000542109.1_Missense_Mutation_p.T223M	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	223					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGCTTGACCGTGCGGTGGCG	0.582													False	0	False	3:46062772	0	A	46062772	G	A	46062772	3	1	79	1	0	0	0	0	1	0	0	0	17509	1145	40	1	337	1	XCR1	3	46062772	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1299550	46062772	151959658	86	6553											
RBM6	10180	broad.mit.edu	37	chr3	50091792	50091792	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaaacattggtgggcacCgatcttcctgttcattctgc	10	11	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:50091792C>A	ENST00000443081.1	+	8	2180	c.1261C>A	c.(1261-1263)Cga>Aga	p.R421R	RBM6_ENST00000266022.4_Silent_p.R553R|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000442092.1_Silent_p.R31R|RBM6_ENST00000422955.1_Silent_p.R31R			P78332	RBM6_HUMAN	RNA binding motif protein 6	553					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.R553R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGGTGGGCACCGATCTTCCTG	0.378													False	0	False	3:50091792	0	A	50091792	C	A	50091792	2	1	79	1	0	0	0	0	0	0	0	1	13223	644	23	3		3	RBM6	3	50091792	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4029020	50091792	147930638	87	6554											
DOCK3	1795	broad.mit.edu	37	chr3	51393896	51393896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcttgcctggcatctctcGgtggtttgaagtggagagga	15	8	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:51393896G>T	ENST00000266037.9	+	43	4498	c.4475G>T	c.(4474-4476)cGg>cTg	p.R1492L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1492	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCATCTCTCGGTGGTTTGAA	0.557													False	0	True	3:51393896	0	T	51393896	G	T	51393896	3	4	79	1	0	0	0	0	1	0	0	0	4718	1116	39	3	4645	3	DOCK3	3	51393896	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1302104	51393896	146628534	88	6555											
FLNB	2317	broad.mit.edu	37	chr3	58108948	58108948	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggtccgtgcgaggccaaaatCgagtgctccgacaatggtga	14	10	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:58108948C>A	ENST00000357272.4	+	21	3420	c.3255C>A	c.(3253-3255)atC>atA	p.I1085I	FLNB_ENST00000419752.2_Silent_p.I916I|FLNB_ENST00000295956.4_Silent_p.I1085I|FLNB_ENST00000429972.2_Silent_p.I1085I|FLNB_ENST00000358537.3_Silent_p.I1085I|FLNB_ENST00000348383.5_Silent_p.I1085I|FLNB_ENST00000493452.1_Silent_p.I916I|FLNB_ENST00000490882.1_Silent_p.I1085I			O75369	FLNB_HUMAN	filamin B, beta	1085					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGCCAAAATCGAGTGCTCCG	0.552													False	0	False	3:58108948	0	A	58108948	C	A	58108948	2	1	79	1	0	0	0	0	0	0	0	1	5974	874	31	3		3	FLNB	3	58108948	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6715052	58108948	139913482	89	6556											
CADPS	8618	broad.mit.edu	37	chr3	62556597	62556597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcttccagacattcttacCgatggcccataaatacctaa	4	13	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:62556597C>A	ENST00000383710.4	-	9	1943	c.1594G>T	c.(1594-1596)Ggt>Tgt	p.G532C	CADPS_ENST00000357948.3_Missense_Mutation_p.G532C|CADPS_ENST00000283269.9_Missense_Mutation_p.G532C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	532	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACATTCTTACCGATGGCCCAT	0.398													False	0	False	3:62556597	0	A	62556597	C	A	62556597	3	1	79	1	0	0	0	0	1	0	0	0	2590	652	23	3	2628	3	CADPS	3	62556597	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4447649	62556597	135465833	90	6557											
TBC1D23	55773	broad.mit.edu	37	chr3	100039700	100039700	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gattggcttatatacagtctCgacaagcgctgaattctgta	9	8	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:100039700C>A	ENST00000394144.4	+	18	1910	c.1903C>A	c.(1903-1905)Cga>Aga	p.R635R	TBC1D23_ENST00000475134.1_Silent_p.R498R|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Silent_p.R620R	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	635						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TATACAGTCTCGACAAGCGCT	0.353													False	0	False	3:100039700	0	A	100039700	C	A	100039700	2	1	79	1	0	0	0	0	0	0	0	1	15695	876	31	3		3	TBC1D23	3	100039700	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	37483103	100039700	97982730	91	6558											
DZIP3	9666	broad.mit.edu	37	chr3	108353719	108353719	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tacttttatttttttccaggGattttttcagttaatgtgca	6	5	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:108353719G>C	ENST00000361582.3	+	10	1048	c.818G>C	c.(817-819)gGa>gCa	p.G273A	DZIP3_ENST00000463306.1_Splice_Site_p.G273A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	273					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTTTCCAGGGATTTTTTCAG	0.254													False	0	True	3:108353719	0	C	108353719	G	C	108353719	5	2	79	1	0	0	0	0	0	0	1	0	4895	1188	41	5	852	5	DZIP3	3	108353719	Splice_Site	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8314019	108353719	89668711	92	6559											
PLA1A	51365	broad.mit.edu	37	chr3	119325737	119325737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccttcgaatcctagctgtGggcagctagtagaaggaagc	12	10	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:119325737G>T	ENST00000273371.4	+	2	262	c.190G>T	c.(190-192)Ggg>Tgg	p.G64W	PLA1A_ENST00000495992.1_Missense_Mutation_p.G64W|PLA1A_ENST00000494440.1_Missense_Mutation_p.G48W|PLA1A_ENST00000488919.1_Intron	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	64					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTAGCTGTGGGCAGCTAGT	0.488													False	0	True	3:119325737	0	T	119325737	G	T	119325737	3	4	79	1	0	0	0	0	1	0	0	0	12057	1348	47	3	196	3	PLA1A	3	119325737	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	10972018	119325737	78696693	93	6560											
POLQ	10721	broad.mit.edu	37	chr3	121192257	121192257	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattgtcaatccctcttctGgtagaacccagagttttctt	6	12	4	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:121192257G>T	ENST00000264233.5	-	21	6611	c.6483C>A	c.(6481-6483)acC>acA	p.T2161T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2161					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCCTCTTCTGGTAGAACCCA	0.443								DNA polymerases (catalytic subunits)					False	0	False	3:121192257	0	T	121192257	G	T	121192257	2	4	79	1	0	0	0	0	0	0	0	1	12277	1335	47	3		3	POLQ	3	121192257	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1866520	121192257	76830173	94	6561											
GOLGB1	2804	broad.mit.edu	37	chr3	121410027	121410027	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgagacctttattttctttGgtgaccatgagtaatttctg	9	6	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:121410027G>T	ENST00000393667.3	-	14	8294	c.8184C>A	c.(8182-8184)acC>acA	p.T2728T	GOLGB1_ENST00000340645.5_Silent_p.T2723T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2723					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TATTTTCTTTGGTGACCATGA	0.403													False	0	True	3:121410027	0	T	121410027	G	T	121410027	2	4	79	1	0	0	0	0	0	0	0	1	6610	1335	47	3		3	GOLGB1	3	121410027	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	217770	121410027	76612403	95	6562											
GATA2	2624	broad.mit.edu	37	chr3	128200016	128200016	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtccagccagggcagctGcactgaagggggatgacttc	15	10	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:128200016G>T	ENST00000341105.2	-	6	1620	c.1289C>A	c.(1288-1290)gCa>gAa	p.A430E	GATA2_ENST00000487848.1_Missense_Mutation_p.A430E|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.A416E	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	430					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CAGGGCAGCTGCACTGAAGGG	0.612			Mis		AML(CML blast transformation)								False	0	False	3:128200016	0	T	128200016	G	T	128200016	3	4	79	1	0	0	0	0	1	0	0	0	6297	1319	46	3	157	3	GATA2	3	128200016	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6789989	128200016	69822414	96	6563											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	11	14	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572													False	0	True	3:129370592	0	A	129370592	T	A	129370592	3	1	79	1	0	0	0	0	1	0	0	0	16074	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08	1170576	129370592	68651838	97	6564											
CEP70	80321	broad.mit.edu	37	chr3	138224205	138224205	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgctcaaatccacaatcttGaacaagatctttattaaaat	3	8	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:138224205G>T	ENST00000264982.3	-	13	1419	c.1153C>A	c.(1153-1155)Caa>Aaa	p.Q385K	CEP70_ENST00000484888.1_Missense_Mutation_p.Q385K|CEP70_ENST00000489254.1_Missense_Mutation_p.Q233K|CEP70_ENST00000542237.1_Missense_Mutation_p.Q365K|CEP70_ENST00000481834.1_Missense_Mutation_p.Q385K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	385					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CCACAATCTTGAACAAGATCT	0.358													False	0	False	3:138224205	0	T	138224205	G	T	138224205	3	4	79	1	0	0	0	0	1	0	0	0	3282	1299	45	3	664	3	CEP70	3	138224205	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8853613	138224205	59798225	98	6565											
TRIM42	287015	broad.mit.edu	37	chr3	140401487	140401487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgcggcagctgcagaaGcacgccgaggtcaccgagaa	14	13	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401487G>A	ENST00000286349.3	+	2	716	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	175						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGCTGCAGAAGCACGCCGAGG	0.607													False	0	False	3:140401487	0	A	140401487	G	A	140401487	2	1	79	1	0	0	0	0	0	0	0	1	16600	962	34	2		2	TRIM42	3	140401487	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2177282	140401487	57620943	99	6566											
TRIM42	287015	broad.mit.edu	37	chr3	140401695	140401695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggtctgccgcaacaagCgcatcgcttacaagcgctgc	11	15	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401695C>T	ENST00000286349.3	+	2	924	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	245						intracellular	zinc ion binding	p.R245C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCAACAAGCGCATCGCTTA	0.617													False	0	False	3:140401695	0	T	140401695	C	T	140401695	3	4	79	1	0	0	0	0	1	0	0	0	16600	768	27	1	739	1	TRIM42	3	140401695	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	208	140401695	57620735	100	6567											
MFSD1	64747	broad.mit.edu	37	chr3	158523162	158523162	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcatataggatatgcaagtGaataccacgaaattcatgct	7	7	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:158523162G>T	ENST00000415822.2	+	3	516	c.375G>T	c.(373-375)gtG>gtT	p.V125V	MFSD1_ENST00000392813.4_Intron|MFSD1_ENST00000264266.8_Silent_p.V76V	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	76					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATATGCAAGTGAATACCACGA	0.328													False	0	False	3:158523162	0	T	158523162	G	T	158523162	2	4	79	1	0	0	0	0	0	0	0	1	9594	1277	45	3		3	MFSD1	3	158523162	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	18121467	158523162	39499268	101	6568											
SI	6476	broad.mit.edu	37	chr3	164793762	164793762	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actatgacaaaaaggacaatCagagagatttccaatccact	6	9	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:164793762C>A	ENST00000264382.3	-	2	101	c.39G>T	c.(37-39)ctG>ctT	p.L13L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	13					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAAGGACAATCAGAGAGATTT	0.284										HNSCC(35;0.089)			False	0	True	3:164793762	0	A	164793762	C	A	164793762	2	1	79	1	0	0	0	0	0	0	0	1	14378	813	29	3		3	SI	3	164793762	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6270600	164793762	33228668	102	6569											
SEC62	7095	broad.mit.edu	37	chr3	169700520	169700520	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaagaagcagttttttcacCgagccctaaaagtaatgaaa	7	7	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:169700520C>A	ENST00000337002.4	+	4	335	c.277C>A	c.(277-279)Cga>Aga	p.R93R	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Silent_p.R93R	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	93					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GTTTTTTCACCGAGCCCTAAA	0.323													False	0	False	3:169700520	0	A	169700520	C	A	169700520	2	1	79	1	0	0	0	0	0	0	0	1	14085	644	23	3		3	SEC62	3	169700520	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4906758	169700520	28321910	103	6570											
MFN1	55669	broad.mit.edu	37	chr3	179083014	179083014	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagaatatatggaagacGtaagttgttatttttttttt	8	3	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:179083014G>A	ENST00000471841.1	+	7	879		c.e7+1		MFN1_ENST00000263969.5_Splice_Site|MFN1_ENST00000280653.7_Splice_Site	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1						mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TATGGAAGACGTAAGTTGTTA	0.318													False	0	False	3:179083014	0	A	179083014	G	A	179083014	5	1	79	1	0	0	0	0	0	0	1	0	9590	1159	40	1	776	1	MFN1	3	179083014	Splice_Site	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	9382494	179083014	18939416	104	6571											
MCF2L2	23101	broad.mit.edu	37	chr3	182910813	182910813	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctcctgtgctggaggccGggtcttccttgctagtggta	13	12	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:182910813G>T	ENST00000328913.3	-	27	3287	c.2990C>A	c.(2989-2991)cCg>cAg	p.P997Q	MCF2L2_ENST00000473233.1_Missense_Mutation_p.P997Q|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	997					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCTGGAGGCCGGGTCTTCCTT	0.493													False	0	True	3:182910813	0	T	182910813	G	T	182910813	3	4	79	1	0	0	0	0	1	0	0	0	9447	1116	39	3	370	3	MCF2L2	3	182910813	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3827799	182910813	15111617	105	6572											
KLHL24	54800	broad.mit.edu	37	chr3	183388894	183388894	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttatgattccttttcaaatCgatggactgaagttgctccc	8	9	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183388894C>A	ENST00000454652.2	+	7	1683	c.1297C>A	c.(1297-1299)Cga>Aga	p.R433R	KLHL24_ENST00000242810.6_Silent_p.R433R|KLHL24_ENST00000476808.1_Silent_p.R433R	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24							axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CTTTTCAAATCGATGGACTGA	0.418													False	0	False	3:183388894	0	A	183388894	C	A	183388894	2	1	79	1	0	0	0	0	0	0	0	1	8429	876	31	3		3	KLHL24	3	183388894	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	478081	183388894	14633536	106	6573											
YEATS2	55689	broad.mit.edu	37	chr3	183479340	183479340	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccacctctttgcccaattGggagtcaccctaaggttcaa	8	13	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183479340G>T	ENST00000305135.5	+	14	1897	c.1702G>T	c.(1702-1704)Ggg>Tgg	p.G568W		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	568					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.G568W(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTGCCCAATTGGGAGTCACCC	0.408													False	0	True	3:183479340	0	T	183479340	G	T	183479340	3	4	79	1	0	0	0	0	1	0	0	0	17556	1348	47	3	1752	3	YEATS2	3	183479340	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	90446	183479340	14543090	107	6574											
FAM53A	152877	broad.mit.edu	37	chr4	1656790	1656790	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccggctcctcttcccaCtgagcacgcaaggctgtgag	12	15	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:1656790C>G	ENST00000308132.6	-	4	989	c.797G>C	c.(796-798)aGt>aCt	p.S266T	FAM53A_ENST00000461064.1_Missense_Mutation_p.S266T|FAM53A_ENST00000489363.1_Missense_Mutation_p.S266T|FAM53A_ENST00000472884.2_Missense_Mutation_p.S266T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	266						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CCTCTTCCCACTGAGCACGCA	0.677													False	0	False	4:1656790	0	G	1656790	C	G	1656790	3	3	79	1	0	0	0	0	1	0	0	0	5619	565	20	5	407	5	FAM53A	4	1656790	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		1656790	189497486	108	6575											
GRK4	2868	broad.mit.edu	37	chr4	3030990	3030990	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attggtggggacttggctgtCtgatctatgaaatgattcag	13	5	3	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:3030990C>A	ENST00000398052.4	+	12	1466	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M	GRK4_ENST00000398051.4_Missense_Mutation_p.L343M|GRK4_ENST00000504933.1_Missense_Mutation_p.L375M|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Missense_Mutation_p.L343M	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	375	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTTGGCTGTCTGATCTATGA	0.368													False	0	False	4:3030990	0	A	3030990	C	A	3030990	3	1	79	1	0	0	0	0	1	0	0	0	6838	912	32	3	1169	3	GRK4	4	3030990	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1374200	3030990	188123286	109	6576											
CYTL1	54360	broad.mit.edu	37	chr4	5016889	5016889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcagttcccttagcgctgacGatctggcaggaccgtagtca	11	12	3	1	rs137887145	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:5016889G>T	ENST00000307746.4	-	4	426	c.400C>A	c.(400-402)Cgt>Agt	p.R134S		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	134					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TAGCGCTGACGATCTGGCAGG	0.488													False	0	False	4:5016889	0	T	5016889	G	T	5016889	3	4	79	1	0	0	0	0	1	0	0	0	4233	1058	37	3	14	3	CYTL1	4	5016889	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1985899	5016889	186137387	110	6577											
KLHL5	51088	broad.mit.edu	37	chr4	39064285	39064285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctctgaggatgtctggttctCgtaaagagtttgatgtgaaa	12	5	3	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:39064285C>A	ENST00000261425.3	+	2	165	c.13C>A	c.(13-15)Cgt>Agt	p.R5S	KLHL5_ENST00000504108.1_Missense_Mutation_p.R51S|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000359687.2_Missense_Mutation_p.R51S|KLHL5_ENST00000381930.3_Missense_Mutation_p.R51S|KLHL5_ENST00000261426.5_Missense_Mutation_p.R51S	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	51						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GTCTGGTTCTCGTAAAGAGTT	0.433													False	0	False	4:39064285	0	A	39064285	C	A	39064285	3	1	79	1	0	0	0	0	1	0	0	0	8442	884	31	3	153	3	KLHL5	4	39064285	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	34047396	39064285	152089991	111	6578											
KLHL5	51088	broad.mit.edu	37	chr4	39077672	39077672	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccaagcccttaatcatgcCgagcaaacatttaaaaaaat	4	10	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:39077672C>A	ENST00000261425.3	+	3	623	c.471C>A	c.(469-471)gcC>gcA	p.A157A	KLHL5_ENST00000504108.1_Silent_p.A203A|KLHL5_ENST00000508137.2_Silent_p.A16A|KLHL5_ENST00000359687.2_Silent_p.A203A|KLHL5_ENST00000381930.3_Silent_p.A203A|KLHL5_ENST00000261426.5_Intron	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	203						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTAATCATGCCGAGCAAACAT	0.368													False	0	False	4:39077672	0	A	39077672	C	A	39077672	2	1	79	1	0	0	0	0	0	0	0	1	8442	639	23	3		3	KLHL5	4	39077672	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	13387	39077672	152076604	112	6579											
N4BP2	55728	broad.mit.edu	37	chr4	40115082	40115082	+	Frame_Shift_Del	DEL	C	C	-													acaaatataaagtcctttttCgggaaccagacacatggtgg							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:40115082delC	ENST00000261435.6	+	7	2034	c.1618delC	c.(1618-1620)cggfs	p.R540fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	540						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGTCCTTTTTCGGGAACCAGA	0.333													False	1	True	4:40115082	0	-	40115082	C	-	40115082	7	5	79	1	0	1	0	1	0	0	0	0	10177	875	31	0	1636	0	N4BP2	4	40115082	Frame_Shift_Del	DEL	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1037410	40115082	151039194	113	6580											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	79	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-HZ-A77Q-01A-11D-A36O-08	319623	40434705	150719571	114	6581											
GABRA2	2555	broad.mit.edu	37	chr4	46305547	46305547	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgggagagaatgacagtcatGatgcaaggcagataggtttg	15	4	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:46305547G>T	ENST00000510861.1	-	8	959	c.786C>A	c.(784-786)atC>atA	p.I262I	GABRA2_ENST00000515082.1_Silent_p.I262I|GABRA2_ENST00000540012.1_Silent_p.I207I|GABRA2_ENST00000381620.4_Silent_p.I262I|GABRA2_ENST00000507069.1_Silent_p.I262I|GABRA2_ENST00000514090.1_Silent_p.I262I|GABRA2_ENST00000356504.1_Silent_p.I262I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	262					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGACAGTCATGATGCAAGGCA	0.388													False	0	False	4:46305547	0	T	46305547	G	T	46305547	2	4	79	1	0	0	0	0	0	0	0	1	6203	1280	45	3		3	GABRA2	4	46305547	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5870842	46305547	144848729	115	6582											
EXOC1	55763	broad.mit.edu	37	chr4	56744167	56744167	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catttcatagagatttgctcCgatatgccaagctgatggag	10	8	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:56744167C>A	ENST00000381295.2	+	9	1507	c.1159C>A	c.(1159-1161)Cga>Aga	p.R387R	EXOC1_ENST00000346134.7_Silent_p.R387R|EXOC1_ENST00000349598.6_Silent_p.R387R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	387					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGATTTGCTCCGATATGCCAA	0.393													False	0	False	4:56744167	0	A	56744167	C	A	56744167	2	1	79	1	0	0	0	0	0	0	0	1	5333	644	23	3		3	EXOC1	4	56744167	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	10438620	56744167	134410109	116	6583											
EPHA5	2044	broad.mit.edu	37	chr4	66509135	66509135	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatgacagtgcgtgaatcCaataaattcactgaaaagaa	7	9	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:66509135C>A	ENST00000273854.3	-	2	792	c.192G>T	c.(190-192)ttG>ttT	p.L64F	EPHA5_ENST00000511294.1_Missense_Mutation_p.L64F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L64F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L64F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	64					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGCGTGAATCCAATAAATTCA	0.308										TSP Lung(17;0.13)			False	0	False	4:66509135	0	A	66509135	C	A	66509135	3	1	79	1	0	0	0	0	1	0	0	0	5202	593	21	3	2989	3	EPHA5	4	66509135	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9764968	66509135	124645141	117	6584											
STAP1	26228	broad.mit.edu	37	chr4	68436855	68436855	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actactcttttcttttatacCgacaaaaagagtataatagt	4	7	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:68436855C>A	ENST00000265404.2	+	2	256	c.174C>A	c.(172-174)acC>acA	p.T58T	STAP1_ENST00000396225.1_Silent_p.T58T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	58	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TCTTTTATACCGACAAAAAGA	0.328													False	0	False	4:68436855	0	A	68436855	C	A	68436855	2	1	79	1	0	0	0	0	0	0	0	1	15334	639	23	3		3	STAP1	4	68436855	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1927720	68436855	122717421	118	6585											
STAP1	26228	broad.mit.edu	37	chr4	68459057	68459057	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaagaccatttatatgttCaactgatgaaaacactggta	6	6	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:68459057C>A	ENST00000265404.2	+	8	891	c.809C>A	c.(808-810)tCa>tAa	p.S270*	STAP1_ENST00000396225.1_Nonsense_Mutation_p.S270*	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	270	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TTTATATGTTCAACTGATGAA	0.333													False	0	False	4:68459057	0	A	68459057	C	A	68459057	4	1	79	1	0	0	0	0	0	1	0	0	15334	838	29	3	839	3	STAP1	4	68459057	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	22202	68459057	122695219	119	6586											
SLC4A4	8671	broad.mit.edu	37	chr4	72319302	72319302	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaaatattcaagctctttcGgcaattctcttcatttatct	3	9	5	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:72319302G>T	ENST00000340595.3	+	9	1477	c.1281G>T	c.(1279-1281)tcG>tcT	p.S427S	SLC4A4_ENST00000351898.6_Silent_p.S471S|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.S427S|SLC4A4_ENST00000264485.5_Silent_p.S471S|SLC4A4_ENST00000425175.1_Silent_p.S471S	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	471						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AAGCTCTTTCGGCAATTCTCT	0.413													False	0	False	4:72319302	0	T	72319302	G	T	72319302	2	4	79	1	0	0	0	0	0	0	0	1	14736	1103	39	3		3	SLC4A4	4	72319302	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3860245	72319302	118834974	120	6587											
ARHGAP24	83478	broad.mit.edu	37	chr4	86852189	86852189	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcaaacggtgttttagttttCggaaaggtaggtagataata	11	3	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:86852189C>A	ENST00000264343.4	+	1	764	c.106C>A	c.(106-108)Cgg>Agg	p.R36R	ARHGAP24_ENST00000395184.1_Intron|ARHGAP24_ENST00000395183.2_Intron|ARHGAP24_ENST00000503995.1_Intron	NM_031305.2	NP_112595.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	129	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTTTAGTTTTCGGAAAGGTAG	0.378													False	0	True	4:86852189	0	A	86852189	C	A	86852189	2	1	79	1	0	0	0	0	0	0	0	1	875	875	31	3		3	ARHGAP24	4	86852189	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	14532887	86852189	104302087	121	6588											
AFF1	4299	broad.mit.edu	37	chr4	87968161	87968161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctccatgccaaaagctgCggcccaccggacagccagca	10	16	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:87968161C>T	ENST00000307808.6	+	3	873	c.453C>T	c.(451-453)tgC>tgT	p.C151C	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.C158C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	151						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCAAAAGCTGCGGCCCACCGG	0.567													False	0	False	4:87968161	0	T	87968161	C	T	87968161	2	4	79	1	0	0	0	0	0	0	0	1	356	776	27	1		1	AFF1	4	87968161	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1115972	87968161	103186115	122	6589											
KLHL8	57563	broad.mit.edu	37	chr4	88084792	88084792	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacagatccaacaagctccCacctgaaaagacggagaaga	8	12	0	5			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:88084792C>A	ENST00000273963.5	-	10	2083	c.1742G>T	c.(1741-1743)tGg>tTg	p.W581L	KLHL8_ENST00000512111.1_Missense_Mutation_p.W581L|KLHL8_ENST00000425278.2_Missense_Mutation_p.W398L|KLHL8_ENST00000498875.2_Missense_Mutation_p.W505L|KLHL8_ENST00000545252.1_Missense_Mutation_p.W230L	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	581										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AACAAGCTCCCACCTGAAAAG	0.398													False	0	True	4:88084792	0	A	88084792	C	A	88084792	3	1	79	1	0	0	0	0	1	0	0	0	8445	595	21	3	124	3	KLHL8	4	88084792	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	116631	88084792	103069484	123	6590											
DNAJB14	79982	broad.mit.edu	37	chr4	100851701	100851701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcaattaggcttgctttgatCgccactacctgatggttttc	9	10	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:100851701C>A	ENST00000442697.2	-	2	365	c.211G>T	c.(211-213)Gat>Tat	p.D71Y	DNAJB14_ENST00000471738.1_5'UTR	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	71					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTGCTTTGATCGCCACTACCT	0.428													False	0	False	4:100851701	0	A	100851701	C	A	100851701	3	1	79	1	0	0	0	0	1	0	0	0	4649	884	31	3	956	3	DNAJB14	4	100851701	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	12766909	100851701	90302575	124	6591											
ANK2	287	broad.mit.edu	37	chr4	114274328	114274328	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagatttgatcaaaatgacCgccatcttgaccacagatgt	7	10	2	5			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:114274328C>A	ENST00000357077.4	+	38	4607	c.4554C>A	c.(4552-4554)acC>acA	p.T1518T	ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1485					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAAAATGACCGCCATCTTGA	0.458													False	0	False	4:114274328	0	A	114274328	C	A	114274328	2	1	79	1	0	0	0	0	0	0	0	1	621	639	23	3		3	ANK2	4	114274328	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	13422627	114274328	76879948	125	6592											
USP53	54532	broad.mit.edu	37	chr4	120214304	120214304	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacatatagattgaaatacCatcagaggcccaagctctct	6	10	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:120214304C>A	ENST00000450251.1	+	15	3704	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N	USP53_ENST00000274030.6_Missense_Mutation_p.H1054N			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	1054					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATTGAAATACCATCAGAGGCC	0.363													False	0	False	4:120214304	0	A	120214304	C	A	120214304	3	1	79	1	0	0	0	0	1	0	0	0	17168	594	21	3	3218	3	USP53	4	120214304	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5939976	120214304	70939972	126	6593											
FAT4	79633	broad.mit.edu	37	chr4	126337730	126337730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtaacacagagtctggatcGggaaacaaaagagcgctttg	12	7	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:126337730G>T	ENST00000394329.3	+	6	6984	c.6971G>T	c.(6970-6972)cGg>cTg	p.R2324L	FAT4_ENST00000335110.5_Missense_Mutation_p.R622L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2324	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R2324Q(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTCTGGATCGGGAAACAAAA	0.418													False	0	True	4:126337730	0	T	126337730	G	T	126337730	3	4	79	1	0	0	0	0	1	0	0	0	5732	1116	39	3	6993	3	FAT4	4	126337730	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6123426	126337730	64816546	127	6594											
SCLT1	132320	broad.mit.edu	37	chr4	129873955	129873955	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgaaagttcttctgttaatCgagaaatttgtatattacat	6	5	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:129873955C>A	ENST00000281142.5	-	14	1690	c.1187G>T	c.(1186-1188)cGa>cTa	p.R396L	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	396						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTCTGTTAATCGAGAAATTTG	0.264													False	0	False	4:129873955	0	A	129873955	C	A	129873955	3	1	79	1	0	0	0	0	1	0	0	0	13987	884	31	3	911	3	SCLT1	4	129873955	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3536225	129873955	61280321	128	6595											
PCDH18	54510	broad.mit.edu	37	chr4	138451498	138451498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatttctgccgtattattaCgcaatgcaggccctataacc	7	11	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:138451498C>T	ENST00000344876.4	-	1	2131	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R582H(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGTATTATTACGCAATGCAGG	0.463													False	0	False	4:138451498	0	T	138451498	C	T	138451498	3	4	79	1	0	0	0	0	1	0	0	0	11581	536	19	1	1678	1	PCDH18	4	138451498	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8577543	138451498	52702778	129	6596											
GAB1	2549	broad.mit.edu	37	chr4	144378878	144378878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caaaccccatggtttagagcGaactgattcacaaaccatag	7	11	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:144378878G>T	ENST00000262995.4	+	7	2058	c.1631G>T	c.(1630-1632)cGa>cTa	p.R544L	GAB1_ENST00000262994.4_Intron|GAB1_ENST00000505913.1_Intron	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	526					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GGTTTAGAGCGAACTGATTCA	0.338													False	0	False	4:144378878	0	T	144378878	G	T	144378878	3	4	79	1	0	0	0	0	1	0	0	0	6190	1058	37	3	1657	3	GAB1	4	144378878	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5927380	144378878	46775398	130	6597											
HHIP	64399	broad.mit.edu	37	chr4	145636516	145636516	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaaaccactctgtctcGgcactagtgggtcctgtaga	10	10	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:145636516G>T	ENST00000296575.3	+	10	2267	c.1612G>T	c.(1612-1614)Ggc>Tgc	p.G538C		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	538						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ACTCTGTCTCGGCACTAGTGG	0.418													False	0	False	4:145636516	0	T	145636516	G	T	145636516	3	4	79	1	0	0	0	0	1	0	0	0	7139	1116	39	3	1650	3	HHIP	4	145636516	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1257638	145636516	45517760	131	6598											
POU4F2	5458	broad.mit.edu	37	chr4	147560372	147560372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacgtggagcccaagtactCggcactgcacagcacctcgc	11	16	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:147560372C>T	ENST00000281321.3	+	1	328	c.80C>T	c.(79-81)tCg>tTg	p.S27L		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	27					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CCCAAGTACTCGGCACTGCAC	0.706													False	0	False	4:147560372	0	T	147560372	C	T	147560372	3	4	79	1	0	0	0	0	1	0	0	0	12348	893	31	1	82	1	POU4F2	4	147560372	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1923856	147560372	43593904	132	6599											
TMEM184C	55751	broad.mit.edu	37	chr4	148545043	148545043	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttttgctgttgactattcCtatatcactgtgggtgatat	8	7	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:148545043C>A	ENST00000296582.3	+	2	756	c.182C>A	c.(181-183)cCt>cAt	p.P61H	TMEM184C_ENST00000508208.1_Missense_Mutation_p.P61H	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	61						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTGACTATTCCTATATCACTG	0.308													False	0	False	4:148545043	0	A	148545043	C	A	148545043	3	1	79	1	0	0	0	0	1	0	0	0	16188	681	24	3	188	3	TMEM184C	4	148545043	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	984671	148545043	42609233	133	6600											
RAPGEF2	9693	broad.mit.edu	37	chr4	160251634	160251634	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attggagtggtttaatgaccCgagcctcagggataaggttg	14	6	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:160251634C>A	ENST00000264431.4	+	7	1387	c.968C>A	c.(967-969)cCg>cAg	p.P323Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	323	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTTAATGACCCGAGCCTCAGG	0.343													False	0	True	4:160251634	0	A	160251634	C	A	160251634	3	1	79	1	0	0	0	0	1	0	0	0	13123	652	23	3	994	3	RAPGEF2	4	160251634	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	11706591	160251634	30902642	134	6601											
TRIM60	166655	broad.mit.edu	37	chr4	165962020	165962020	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcaaaacctaaaatgccctGaactcttttcatttagatta	3	9	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:165962020G>T	ENST00000512596.1	+	3	1012	c.796G>T	c.(796-798)Gaa>Taa	p.E266*	TRIM60_ENST00000508504.1_Nonsense_Mutation_p.E266*|TRIM60_ENST00000341062.5_Nonsense_Mutation_p.E266*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	266						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AAAATGCCCTGAACTCTTTTC	0.393													False	0	False	4:165962020	0	T	165962020	G	T	165962020	4	4	79	1	0	0	0	0	0	1	0	0	16618	1291	45	3	798	3	TRIM60	4	165962020	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5710386	165962020	25192256	135	6602											
CPE	1363	broad.mit.edu	37	chr4	166418743	166418743	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaatggtggaaaatgatgtCagaaactttaaatttttaaa	9	2	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:166418743C>A	ENST00000402744.4	+	9	1692	c.1412C>A	c.(1411-1413)tCa>tAa	p.S471*		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	471					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAAATGATGTCAGAAACTTTA	0.303													False	0	False	4:166418743	0	A	166418743	C	A	166418743	4	1	79	1	0	0	0	0	0	1	0	0	3822	838	29	3	1446	3	CPE	4	166418743	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	456723	166418743	24735533	136	6603											
SPOCK3	50859	broad.mit.edu	37	chr4	167983676	167983676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctggactccaagtgcGgaaataatcatcctaagggg	10	9	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:167983676G>T	ENST00000357154.3	-	4	348	c.211C>A	c.(211-213)Cgc>Agc	p.R71S	SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R68S|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R20S|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000510741.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000535728.1_5'UTR	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	71					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTCCAAGTGCGGAAATAATCA	0.299													False	0	False	4:167983676	0	T	167983676	G	T	167983676	3	4	79	1	0	0	0	0	1	0	0	0	15163	1116	39	3	1135	3	SPOCK3	4	167983676	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1564933	167983676	23170600	137	6604											
PALLD	23022	broad.mit.edu	37	chr4	169812152	169812152	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcacaaaggatgctgttattCaagacctggaacgaaaactt	9	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:169812152C>A	ENST00000335742.7	+	12	2927	c.1570C>A	c.(1570-1572)Caa>Aaa	p.Q524K	PALLD_ENST00000261509.6_Missense_Mutation_p.Q682K|PALLD_ENST00000512127.1_Missense_Mutation_p.Q300K|PALLD_ENST00000507735.1_Missense_Mutation_p.Q195K|PALLD_ENST00000505667.1_Missense_Mutation_p.Q682K|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	906	Ig-like C2-type 2.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGCTGTTATTCAAGACCTGGA	0.468									Pancreatic Cancer, Familial Clustering of				False	0	False	4:169812152	0	A	169812152	C	A	169812152	3	1	79	1	0	0	0	0	1	0	0	0	11475	827	29	3	2589	3	PALLD	4	169812152	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1828476	169812152	21342124	138	6605											
WWC2	80014	broad.mit.edu	37	chr4	184190214	184190214	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccacagaatccattttattCaatgatgtgttcagagtcgc	7	10	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:184190214C>A	ENST00000403733.3	+	15	2497	c.2298C>A	c.(2296-2298)ttC>ttA	p.F766L	WWC2_ENST00000448232.2_Missense_Mutation_p.F766L|WWC2_ENST00000378925.3_Missense_Mutation_p.F668L|WWC2_ENST00000513834.1_Missense_Mutation_p.F717L|WWC2_ENST00000506225.1_3'UTR|WWC2_ENST00000504005.1_Missense_Mutation_p.F448L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	766	C2.									NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CCATTTTATTCAATGATGTGT	0.448													False	0	False	4:184190214	0	A	184190214	C	A	184190214	3	1	79	1	0	0	0	0	1	0	0	0	17496	825	29	3	2356	3	WWC2	4	184190214	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	14378062	184190214	6964062	139	6606											
SLC6A18	348932	broad.mit.edu	37	chr5	1239673	1239674	+	Frame_Shift_Ins	INS	-	-	AAAAGCGATGTGT													ttttgcaagttacaactcgcINSccaggtaggcagtcgggctc							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:1239673_1239674insAAAAGCGATGTGT	ENST00000324642.3	+	6	964_965	c.841_842insAAAAGCGATGTGT	c.(841-843)cccfs	p.P281fs	SLC6A18_ENST00000296821.4_Frame_Shift_Ins_p.P276fs	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	281					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTACAACTCGCCCAGGTAGGCA	0.599													False	0	True	5:1239673	0	AAAAGCGATGTGT	1239674	-	AAAAGCGATGTGT	1239673	7	5	79	1	0	1	1	0	0	0	0	0	14761	739	26	0	863	0	SLC6A18	5	1239673	Frame_Shift_Ins	INS	-	TCGA-HZ-A77Q-01A-11D-A36O-08		1239673	179675587	140	6607											
SEMA5A	9037	broad.mit.edu	37	chr5	9197320	9197320	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggatacggtagccaggccGagcgcgagttttcttggtac	15	9	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:9197320G>T	ENST00000382496.5	-	10	1693	c.1028C>A	c.(1027-1029)tCg>tAg	p.S343*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	343	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TAGCCAGGCCGAGCGCGAGTT	0.587													False	0	False	5:9197320	0	T	9197320	G	T	9197320	4	4	79	1	0	0	0	0	0	1	0	0	14118	1059	37	3	2252	3	SEMA5A	5	9197320	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7957647	9197320	171717940	141	6608											
SKIV2L2	23517	broad.mit.edu	37	chr5	54645456	54645456	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgcaattgattgcttatcCgatgaagataaaaaactccc	6	8	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:54645456C>A	ENST00000230640.5	+	12	1550	c.1296C>A	c.(1294-1296)tcC>tcA	p.S432S	SKIV2L2_ENST00000545714.1_Silent_p.S331S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	432	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATTGCTTATCCGATGAAGATA	0.313													False	0	False	5:54645456	0	A	54645456	C	A	54645456	2	1	79	1	0	0	0	0	0	0	0	1	14441	639	23	3		3	SKIV2L2	5	54645456	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	45448136	54645456	126269804	142	6609											
DDX4	54514	broad.mit.edu	37	chr5	55109582	55109582	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctttgtcaagaaaaaatatCaactacaagtattcatgggt	6	6	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:55109582C>A	ENST00000505374.1	+	19	1789	c.1697C>A	c.(1696-1698)tCa>tAa	p.S566*	DDX4_ENST00000354991.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.S546*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.S417*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	566	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GAAAAAATATCAACTACAAGT	0.284													False	0	False	5:55109582	0	A	55109582	C	A	55109582	4	1	79	1	0	0	0	0	0	1	0	0	4385	838	29	3	1808	3	DDX4	5	55109582	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	464126	55109582	125805678	143	6610											
HTR1A	3350	broad.mit.edu	37	chr5	63257013	63257013	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggggtccgagcggtcttcCggggtgcgccagcccagcat	16	14	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:63257013C>A	ENST00000323865.3	-	1	767	c.534G>T	c.(532-534)ccG>ccT	p.P178P	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	178					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGCGGTCTTCCGGGGTGCGCC	0.597													False	0	True	5:63257013	0	A	63257013	C	A	63257013	2	1	79	1	0	0	0	0	0	0	0	1	7486	639	23	3		3	HTR1A	5	63257013	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8147431	63257013	117658247	144	6611											
MRPS36	92259	broad.mit.edu	37	chr5	68524181	68524181	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaaatacagaaggaaActtgtgtctcaagaagaaat	8	7	2	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:68524181A>T	ENST00000256441.4	+	3	331	c.261A>T	c.(259-261)aaA>aaT	p.K87N	MRPS36_ENST00000512880.1_Missense_Mutation_p.K22N|MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000602380.1_Missense_Mutation_p.K22N	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	87					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		ACAGAAGGAAACTTGTGTCTC	0.373													False	0	True	5:68524181	0	T	68524181	A	T	68524181	3	4	79	1	0	0	0	0	1	0	0	0	9912	40	2	5	271	5	MRPS36	5	68524181	Missense_Mutation	SNP	A	TCGA-HZ-A77Q-01A-11D-A36O-08	5267168	68524181	112391079	145	6612											
GTF2H2C	728340	broad.mit.edu	37	chr5	68875685	68875685	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttctgaatgctcacttattCgtatgggtaagtgtttttat	9	5	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:68875685C>A	ENST00000510979.1	+	11	946	c.751C>A	c.(751-753)Cgt>Agt	p.R251S	GTF2H2C_ENST00000508344.2_Missense_Mutation_p.R194S|GTF2H2C_ENST00000380729.3_Missense_Mutation_p.R251S|GTF2H2C_ENST00000514162.1_Intron	NM_001098728.1	NP_001092198.1	Q6P1K8	T2H2L_HUMAN	general transcription factor IIH, polypeptide 2C	251					DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(1)|lung(1)	2						CTCACTTATTCGTATGGGTAA	0.308													False	0	False	5:68875685	0	A	68875685	C	A	68875685	3	1	79	1	0	0	0	0	1	0	0	0	6909	884	31	3	789	3	GTF2H2C	5	68875685	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	351504	68875685	112039575	146	6613											
VCAN	1462	broad.mit.edu	37	chr5	82868255	82868255	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caatacgagaattggagaccCaaccagccagacagcttctt	8	12	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:82868255C>A	ENST00000265077.3	+	13	10321	c.9756C>A	c.(9754-9756)ccC>ccA	p.P3252P	VCAN_ENST00000343200.5_Silent_p.P2265P|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Silent_p.P1450P|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Silent_p.P511P|VCAN_ENST00000342785.4_Silent_p.P1498P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3252	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATTGGAGACCCAACCAGCCAG	0.423													False	0	True	5:82868255	0	A	82868255	C	A	82868255	2	1	79	1	0	0	0	0	0	0	0	1	17222	581	21	3		3	VCAN	5	82868255	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	13992570	82868255	98047005	147	6614											
MEF2C	4208	broad.mit.edu	37	chr5	88119587	88119587	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atccataatcctcgtaatctGaatcttttttctccccatag	3	12	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:88119587G>T	ENST00000504921.2	-	2	691	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	MEF2C_ENST00000514028.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000437473.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000510942.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000539796.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000424173.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000340208.5_Missense_Mutation_p.Q7K			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	7	Lys-rich (basic).|MADS-box.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.Q7E(3)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CTCGTAATCTGAATCTTTTTT	0.343										HNSCC(66;0.2)			False	0	False	5:88119587	0	T	88119587	G	T	88119587	3	4	79	1	0	0	0	0	1	0	0	0	9524	1299	45	3	1584	3	MEF2C	5	88119587	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5251332	88119587	92795673	148	6615											
LYSMD3	116068	broad.mit.edu	37	chr5	89815139	89815139	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggcaaaatttcctgttgttCggaagagtattgaacagatg	11	5	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:89815139C>A	ENST00000315948.6	-	3	562	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	LYSMD3_ENST00000509384.1_Missense_Mutation_p.R120L|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	140					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TCCTGTTGTTCGGAAGAGTAT	0.373													False	0	False	5:89815139	0	A	89815139	C	A	89815139	4	1	79	1	0	0	0	0	0	1	0	0	9189	893	31	3	506	3	LYSMD3	5	89815139	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1695552	89815139	91100121	149	6616											
TTC37	9652	broad.mit.edu	37	chr5	94852908	94852909	+	Frame_Shift_Del	DEL	CT	CT	-													ttgttttccttctttctgacCtagaaggactcctaaaacat							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:94852908_94852909delCT	ENST00000358746.2	-	21	2530_2531	c.2232_2233delAG	c.(2230-2235)ctaggtfs	p.G745fs		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	745							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCTTTCTGACCTAGAAGGACTC	0.411													False	1	False	5:94852908	0	-	94852909	CT	-	94852908	7	5	79	1	0	1	0	1	0	0	0	0	16789	681	24	0	2553	0	TTC37	5	94852908	Frame_Shift_Del	DEL	CT	TCGA-HZ-A77Q-01A-11D-A36O-08	5037769	94852908	86062352	150	6617											
FBN2	2201	broad.mit.edu	37	chr5	127730895	127730895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcagcactgcattttcGtcattctccccgggagctct	8	15	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:127730895G>A	ENST00000508053.1	-	15	2125	c.1151C>T	c.(1150-1152)aCg>aTg	p.T384M	FBN2_ENST00000508989.1_Missense_Mutation_p.T351M|FBN2_ENST00000262464.4_Missense_Mutation_p.T384M			P35556	FBN2_HUMAN	fibrillin 2	384	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGCATTTTCGTCATTCTCCC	0.542													False	0	False	5:127730895	0	A	127730895	G	A	127730895	3	1	79	1	0	0	0	0	1	0	0	0	5743	1145	40	1	7815	1	FBN2	5	127730895	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	32877987	127730895	53184365	151	6618											
ACSL6	23305	broad.mit.edu	37	chr5	131323807	131323807	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctctctttcagggcttcttcGaatgggtccatgaggatgat	11	9	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:131323807G>T	ENST00000379264.2	-	7	873	c.765C>A	c.(763-765)ttC>ttA	p.F255L	ACSL6_ENST00000379255.1_Missense_Mutation_p.F195L|ACSL6_ENST00000431707.1_Missense_Mutation_p.F210L|ACSL6_ENST00000544770.1_Missense_Mutation_p.F139L|ACSL6_ENST00000379244.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379240.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379249.3_Missense_Mutation_p.F230L|ACSL6_ENST00000379246.1_Missense_Mutation_p.F241L|ACSL6_ENST00000357096.1_Missense_Mutation_p.F195L|ACSL6_ENST00000379272.2_Missense_Mutation_p.F245L|ACSL6_ENST00000543479.1_Missense_Mutation_p.F230L|ACSL6_ENST00000296869.4_Missense_Mutation_p.F255L	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	230					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCTTCTTCGAATGGGTCCA	0.562													False	0	False	5:131323807	0	T	131323807	G	T	131323807	3	4	79	1	0	0	0	0	1	0	0	0	181	1049	37	3	1545	3	ACSL6	5	131323807	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3592912	131323807	49591453	152	6619											
ZCCHC10	54819	broad.mit.edu	37	chr5	132362202	132362202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttacgcttgtctccgggCtattagccgatgcatgggag	12	10	1	0	rs143508297	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:132362202C>T	ENST00000324170.3	-	1	94	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	ZCCHC10_ENST00000513541.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509437.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000504170.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.A10T	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	10							nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCTCCGGGCTATTAGCCGA	0.642													False	0	True	5:132362202	0	T	132362202	C	T	132362202	3	4	79	1	0	0	0	0	1	0	0	0	17662	797	28	2	500	2	ZCCHC10	5	132362202	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1038395	132362202	48553058	153	6620											
FAM13B	0	broad.mit.edu	37	chr5	137278825	137278825	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttctttaaaggattaccttGatttcttcaaaaaaatgtgc	5	6	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:137278825G>T	ENST00000033079.3	-	20	2806	c.2355C>A	c.(2353-2355)atC>atA	p.I785I	FAM13B_ENST00000420893.2_Silent_p.I757I|FAM13B_ENST00000425075.2_Silent_p.I661I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	785					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						GGATTACCTTGATTTCTTCAA	0.363													False	0	False	5:137278825	0	T	137278825	G	T	137278825	2	4	79	1	0	0	0	0	0	0	0	1	5489	1280	45	3		3	FAM13B	5	137278825	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4916623	137278825	43636435	154	6621											
RNF14	9604	broad.mit.edu	37	chr5	141354446	141354446	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccacttgtgctgaactttGaactgccaccagattatcca	6	13	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:141354446G>T	ENST00000394520.2	+	4	541	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	RNF14_ENST00000502341.1_Intron|RNF14_ENST00000356143.1_Nonsense_Mutation_p.E78*|RNF14_ENST00000394514.2_Intron|RNF14_ENST00000394515.3_Nonsense_Mutation_p.E78*|RNF14_ENST00000347642.3_Nonsense_Mutation_p.E78*|RNF14_ENST00000394519.1_Nonsense_Mutation_p.E78*|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	78	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GCTGAACTTTGAACTGCCACC	0.413													False	0	True	5:141354446	0	T	141354446	G	T	141354446	4	4	79	1	0	0	0	0	0	1	0	0	13522	1291	45	3	238	3	RNF14	5	141354446	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4075621	141354446	39560814	155	6622											
FAT2	2196	broad.mit.edu	37	chr5	150907603	150907603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtagctccccctttttgGggtgaatggtgaagtgccca	12	11	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:150907603G>T	ENST00000261800.5	-	15	10130	c.10118C>A	c.(10117-10119)cCc>cAc	p.P3373H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3373	Cadherin 30.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCTTTTTGGGGTGAATGGT	0.562													False	0	True	5:150907603	0	T	150907603	G	T	150907603	3	4	79	1	0	0	0	0	1	0	0	0	5730	1232	43	3	2967	3	FAT2	5	150907603	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	9553157	150907603	30007657	156	6623											
FAM114A2	10827	broad.mit.edu	37	chr5	153381896	153381896	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctgttttgtggaatagttCaattgagcaggcagtcagtt	12	5	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:153381896C>A	ENST00000351797.4	-	11	1247	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	FAM114A2_ENST00000522858.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520313.1_Nonsense_Mutation_p.E321*|FAM114A2_ENST00000520667.1_Nonsense_Mutation_p.E391*	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	391							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TGGAATAGTTCAATTGAGCAG	0.443													False	0	False	5:153381896	0	A	153381896	C	A	153381896	4	1	79	1	0	0	0	0	0	1	0	0	5440	835	29	3	362	3	FAM114A2	5	153381896	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2474293	153381896	27533364	157	6624											
GABRG2	0	broad.mit.edu	37	chr5	161578743	161578743	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaaacccaaagcttcttcGgatgttttccttcaaggtat	6	10	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:161578743G>T	ENST00000356592.3	+	9	1596	c.1136G>T	c.(1135-1137)cGg>cTg	p.R379L	GABRG2_ENST00000361925.4_Intron|GABRG2_ENST00000414552.2_Missense_Mutation_p.R419L|GABRG2_ENST00000393933.4_Intron	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	376					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AAGCTTCTTCGGATGTTTTCC	0.279													False	0	False	5:161578743	0	T	161578743	G	T	161578743	3	4	79	1	0	0	0	0	1	0	0	0	6214	1116	39	3	1294	3	GABRG2	5	161578743	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8196847	161578743	19336517	158	6625											
NSD1	64324	broad.mit.edu	37	chr5	176562201	176562201	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagacaaggacagccctttcGgtaatggtcaatccaatttt	8	9	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:176562201G>T	ENST00000439151.2	+	2	142	c.97G>T	c.(97-99)Ggt>Tgt	p.G33C	NSD1_ENST00000511258.1_Splice_Site_p.S10S|NSD1_ENST00000354179.4_Splice_Site_p.S10S|NSD1_ENST00000347982.4_Splice_Site_p.S10S|NSD1_ENST00000361032.4_Missense_Mutation_p.G33C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	33					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGCCCTTTCGGTAATGGTCA	0.448			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			False	0	False	5:176562201	0	T	176562201	G	T	176562201	3	4	79	1	0	0	0	0	1	0	0	0	10737	1130	39	3	99	3	NSD1	5	176562201	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	14983458	176562201	4353059	159	6626											
KDM1B	221656	broad.mit.edu	37	chr6	18222194	18222194	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggcatatttgagtggcgttCgagaagcaagcaagattgca	14	6	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:18222194C>A	ENST00000388870.2	+	22	2684	c.2443C>A	c.(2443-2445)Cga>Aga	p.R815R	KDM1B_ENST00000297792.5_Silent_p.R582R|KDM1B_ENST00000546309.2_Silent_p.R105R|KDM1B_ENST00000397244.1_Silent_p.R583R			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	814					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GAGTGGCGTTCGAGAAGCAAG	0.403													False	0	False	6:18222194	0	A	18222194	C	A	18222194	2	1	79	1	0	0	0	0	0	0	0	1	8173	876	31	3		3	KDM1B	6	18222194	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		18222194	152892873	160	6627											
CDKAL1	54901	broad.mit.edu	37	chr6	20781448	20781448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggagcacgattggatttgcCgaagattaggaagaatccac	13	7	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:20781448C>A	ENST00000274695.4	+	8	757	c.590C>A	c.(589-591)cCg>cAg	p.P197Q	CDKAL1_ENST00000378610.1_Missense_Mutation_p.P197Q|CDKAL1_ENST00000378624.4_Missense_Mutation_p.P127Q|RP3-348I23.2_ENST00000421167.1_RNA	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	197					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTGGATTTGCCGAAGATTAGG	0.388													False	0	False	6:20781448	0	A	20781448	C	A	20781448	3	1	79	1	0	0	0	0	1	0	0	0	3175	652	23	3	612	3	CDKAL1	6	20781448	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2559254	20781448	150333619	161	6628											
BTN1A1	696	broad.mit.edu	37	chr6	26501880	26501880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgggtgaggacgccgagCtgccctgtcgcctgtctccg	15	13	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:26501880C>T	ENST00000244513.6	+	2	208	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	48	Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGACGCCGAGCTGCCCTGTCG	0.647													False	0	False	6:26501880	0	T	26501880	C	T	26501880	2	4	79	1	0	0	0	0	0	0	0	1	1566	796	28	2		2	BTN1A1	6	26501880	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5720432	26501880	144613187	162	6629											
SCAND3	114821	broad.mit.edu	37	chr6	28543364	28543364	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taagatctacttggcatcttGaactaacttccttaattgat	5	8	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:28543364G>T	ENST00000452236.2	-	3	1735	c.1118C>A	c.(1117-1119)tCa>tAa	p.S373*		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	373	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTGGCATCTTGAACTAACTTC	0.338													False	0	True	6:28543364	0	T	28543364	G	T	28543364	4	4	79	1	0	0	0	0	0	1	0	0	13956	1294	45	3	2867	3	SCAND3	6	28543364	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2041484	28543364	142571703	163	6630											
C6orf136	221545	broad.mit.edu	37	chr6	30619054	30619054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcacaggggccggacatGgtacattctttcactgaccc	9	13	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:30619054G>T	ENST00000293604.6	+	4	1311	c.1118G>T	c.(1117-1119)tGg>tTg	p.W373L	C6orf136_ENST00000376471.4_Missense_Mutation_p.W58L|C6orf136_ENST00000376473.5_Missense_Mutation_p.W192L|C6orf136_ENST00000528347.2_Missense_Mutation_p.W49L	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	192										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGCCGGACATGGTACATTCTT	0.493													False	0	False	6:30619054	0	T	30619054	G	T	30619054	3	4	79	1	0	0	0	0	1	0	0	0	2348	1357	47	3	1132	3	C6orf136	6	30619054	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2075690	30619054	140496013	164	6631											
TNXB	7148	broad.mit.edu	37	chr6	32046907	32046907	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgggctctaggcctcccacGgtgacctcactctccttgcc	9	19	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:32046907G>T	ENST00000375244.3	-	11	4479	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	TNXB_ENST00000375247.2_Silent_p.T1426T			P22105	TENX_HUMAN	tenascin XB	1513	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCTCCCACGGTGACCTCAC	0.687													False	0	False	6:32046907	0	T	32046907	G	T	32046907	2	4	79	1	0	0	0	0	0	0	0	1	16428	1103	39	3		3	TNXB	6	32046907	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1427853	32046907	139068160	165	6632											
GRM4	2914	broad.mit.edu	37	chr6	34003600	34003600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggtgcacgtgaccatgaGcagcatgctgtagcccagca	12	13	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:34003600G>A	ENST00000538487.2	-	9	2730	c.2287C>T	c.(2287-2289)Ctc>Ttc	p.L763F	GRM4_ENST00000535756.1_Missense_Mutation_p.L630F|GRM4_ENST00000609222.1_Missense_Mutation_p.L630F|GRM4_ENST00000374177.3_Missense_Mutation_p.L647F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Missense_Mutation_p.L623F|GRM4_ENST00000544773.2_Missense_Mutation_p.L594F|GRM4_ENST00000374181.4_Missense_Mutation_p.L763F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GTGACCATGAGCAGCATGCTG	0.602													False	0	False	6:34003600	0	A	34003600	G	A	34003600	3	1	79	1	0	0	0	0	1	0	0	0	6846	971	34	2	463	2	GRM4	6	34003600	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1956693	34003600	137111467	166	6633											
PHF3	23469	broad.mit.edu	37	chr6	64390021	64390021	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggacaaggtagaagaaaattCagtgagatctccaagaaaat	10	5	2	4	rs149513419		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:64390021C>A	ENST00000262043.3	+	3	705	c.365C>A	c.(364-366)tCa>tAa	p.S122*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.S122*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.S122*			Q92576	PHF3_HUMAN	PHD finger protein 3	122					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAGAAAATTCAGTGAGATCT	0.383													False	0	False	6:64390021	0	A	64390021	C	A	64390021	4	1	79	1	0	0	0	0	0	1	0	0	11905	838	29	3	371	3	PHF3	6	64390021	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	30386421	64390021	106725046	167	6634											
KCNQ5	56479	broad.mit.edu	37	chr6	73713655	73713655	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccttgtctttggttgcttGattttgtcagtgttttctac	8	8	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:73713655G>T	ENST00000342056.2	+	2	821	c.423G>T	c.(421-423)ttG>ttT	p.L141F	KCNQ5_ENST00000370398.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L141F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L141F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L141F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	141					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTGGTTGCTTGATTTTGTCAG	0.363													False	0	False	6:73713655	0	T	73713655	G	T	73713655	3	4	79	1	0	0	0	0	1	0	0	0	8136	1281	45	3	429	3	KCNQ5	6	73713655	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	9323634	73713655	97401412	168	6635											
SENP6	26054	broad.mit.edu	37	chr6	76425185	76425185	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacaaaaagagaagaaatcCgaaacataattctgaagcta	7	6	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:76425185C>A	ENST00000370014.3	+	24	3833	c.3214C>A	c.(3214-3216)Cga>Aga	p.R1072R	SENP6_ENST00000447266.2_Silent_p.R1072R|SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.R1065R	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1072	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGAAGAAATCCGAAACATAAT	0.368													False	0	False	6:76425185	0	A	76425185	C	A	76425185	2	1	79	1	0	0	0	0	0	0	0	1	14131	644	23	3		3	SENP6	6	76425185	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2711530	76425185	94689882	169	6636											
TTK	7272	broad.mit.edu	37	chr6	80718204	80718204	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttgcacaatttgaactgtCacaaggtaatctgaaaatgt	7	6	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:80718204C>A	ENST00000509894.1	+	4	1293	c.464C>A	c.(463-465)tCa>tAa	p.S155*	TTK_ENST00000230510.3_Nonsense_Mutation_p.S155*|TTK_ENST00000369798.2_Nonsense_Mutation_p.S155*			P33981	TTK_HUMAN	TTK protein kinase	155					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTGAACTGTCACAAGGTAAT	0.303													False	0	False	6:80718204	0	A	80718204	C	A	80718204	4	1	79	1	0	0	0	0	0	1	0	0	16804	838	29	3	474	3	TTK	6	80718204	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4293019	80718204	90396863	170	6637											
KLHL32	114792	broad.mit.edu	37	chr6	97575296	97575296	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggtggagtaactaatacGgcacaatatcagaacaggct	10	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:97575296G>T	ENST00000369261.4	+	8	1734	c.1371G>T	c.(1369-1371)acG>acT	p.T457T	KLHL32_ENST00000539200.1_Silent_p.T388T|KLHL32_ENST00000536676.1_Silent_p.T421T|KLHL32_ENST00000544166.1_Silent_p.T13T	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	457										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TAACTAATACGGCACAATATC	0.318													False	0	False	6:97575296	0	T	97575296	G	T	97575296	2	4	79	1	0	0	0	0	0	0	0	1	8436	1103	39	3		3	KLHL32	6	97575296	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	16857092	97575296	73539771	171	6638											
SEC63	11231	broad.mit.edu	37	chr6	108233927	108233927	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaatgcactcaccagaattGagtttttctggtcaactatc	6	9	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:108233927G>T	ENST00000369002.4	-	6	745	c.566C>A	c.(565-567)tCa>tAa	p.S189*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	189					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CACCAGAATTGAGTTTTTCTG	0.318													False	0	False	6:108233927	0	T	108233927	G	T	108233927	4	4	79	1	0	0	0	0	0	1	0	0	14086	1294	45	3	1780	3	SEC63	6	108233927	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	10658631	108233927	62881140	172	6639											
MCM9	254394	broad.mit.edu	37	chr6	119238766	119238766	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tagtattcccaaaaatcttcGaattccttttggacctcctc	4	12	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:119238766G>T	ENST00000316316.6	-	5	1150	c.864C>A	c.(862-864)ttC>ttA	p.F288L	MCM9_ENST00000316068.3_Missense_Mutation_p.F288L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	288					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AAAAATCTTCGAATTCCTTTT	0.378													False	0	False	6:119238766	0	T	119238766	G	T	119238766	3	4	79	1	0	0	0	0	1	0	0	0	9461	1049	37	3	323	3	MCM9	6	119238766	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	11004839	119238766	51876301	173	6640											
GJA1	2697	broad.mit.edu	37	chr6	121768514	121768514	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccttcttgctgatccagtGgtacatctatggattcagct	10	10	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:121768514G>T	ENST00000282561.3	+	2	678	c.521G>T	c.(520-522)tGg>tTg	p.W174L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	174					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTGATCCAGTGGTACATCTAT	0.498													False	0	False	6:121768514	0	T	121768514	G	T	121768514	3	4	79	1	0	0	0	0	1	0	0	0	6445	1357	47	3	523	3	GJA1	6	121768514	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2529748	121768514	49346553	174	6641											
LAMA2	3908	broad.mit.edu	37	chr6	129636778	129636778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctttttattggaaacttcCagaacaatttgaaggaaaga	7	6	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:129636778C>A	ENST00000421865.2	+	25	3762	c.3713C>A	c.(3712-3714)cCa>cAa	p.P1238Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1238	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGAAACTTCCAGAACAATTT	0.373													False	0	False	6:129636778	0	A	129636778	C	A	129636778	3	1	79	1	0	0	0	0	1	0	0	0	8657	594	21	3	3811	3	LAMA2	6	129636778	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7868264	129636778	41478289	175	6642											
PPIL4	85313	broad.mit.edu	37	chr6	149842225	149842225	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccatttaacctttgcaaccGactggctaaaatccacatgt	5	12	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:149842225G>T	ENST00000253329.2	-	10	985	c.953C>A	c.(952-954)tCg>tAg	p.S318*		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	318	RRM.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		CTTTGCAACCGACTGGCTAAA	0.333													False	0	False	6:149842225	0	T	149842225	G	T	149842225	4	4	79	1	0	0	0	0	0	1	0	0	12403	1059	37	3	541	3	PPIL4	6	149842225	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	20205447	149842225	21272842	176	6643											
MLLT4	4301	broad.mit.edu	37	chr6	168265341	168265341	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccaccactcaagatgtaatCgaaacgctcgcggagaaatt	9	11	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:168265341C>A	ENST00000366806.2	+	2	358	c.216C>A	c.(214-216)atC>atA	p.I72I	MLLT4_ENST00000392112.1_Silent_p.I72I|MLLT4_ENST00000344191.4_Silent_p.I72I|MLLT4_ENST00000447894.2_Silent_p.I72I|MLLT4_ENST00000392108.3_Silent_p.I72I|MLLT4_ENST00000351017.4_Silent_p.I72I|MLLT4_ENST00000400822.3_Silent_p.I72I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	72	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAGATGTAATCGAAACGCTCG	0.438			T	MLL	AL								False	0	False	6:168265341	0	A	168265341	C	A	168265341	2	1	79	1	0	0	0	0	0	0	0	1	9696	874	31	3		3	MLLT4	6	168265341	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	18423116	168265341	2849726	177	6644											
SUN1	23353	broad.mit.edu	37	chr7	888057	888057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatggttttttaataggcGgtgcgtctttctacgtgaat	10	6	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:888057G>T	ENST00000456758.2	+	9	835	c.835G>T	c.(835-837)Ggt>Tgt	p.G279C	SUN1_ENST00000389574.3_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000452783.2_Intron			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTAATAGGCGGTGCGTCTTT	0.358													False	0	False	7:888057	0	T	888057	G	T	888057	3	4	79	1	0	0	0	0	1	0	0	0	15473	1131	39	3		3	SUN1	7	888057	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		888057	158250606	178	6645											
NEUROD6	63974	broad.mit.edu	37	chr7	31378601	31378601	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcgttcgcttcctgtctcctGaacttgaccctttccaatcg	7	15	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:31378601G>T	ENST00000297142.3	-	2	604	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	94					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCTGTCTCCTGAACTTGACCC	0.498													False	0	False	7:31378601	0	T	31378601	G	T	31378601	3	4	79	1	0	0	0	0	1	0	0	0	10419	1281	45	3	735	3	NEUROD6	7	31378601	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	30490544	31378601	127760062	179	6646											
STARD3NL	0	broad.mit.edu	37	chr7	38247300	38247300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcacctttgacctcttattCgtaacattactgtggataat	6	9	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:38247300C>A	ENST00000009041.7	+	2	452	c.195C>A	c.(193-195)ttC>ttA	p.F65L	STARD3NL_ENST00000544203.1_Missense_Mutation_p.F58L|STARD3NL_ENST00000396013.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000434197.1_Missense_Mutation_p.F65L	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	65	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						ACCTCTTATTCGTAACATTAC	0.373													False	0	False	7:38247300	0	A	38247300	C	A	38247300	3	1	79	1	0	0	0	0	1	0	0	0	15340	883	31	3	197	3	STARD3NL	7	38247300	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6868699	38247300	120891363	180	6647											
AMPH	273	broad.mit.edu	37	chr7	38471789	38471789	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagttattagtggcttacCgtccataggtcccagggcaa	11	10	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:38471789C>T	ENST00000356264.2	-	13	1373	c.1158G>A	c.(1156-1158)acG>acA	p.T386T	AMPH_ENST00000428293.2_Splice_Site_p.T386T|AMPH_ENST00000325590.5_Splice_Site_p.T386T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	386					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.T386T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGTGGCTTACCGTCCATAGGT	0.323													False	0	False	7:38471789	0	T	38471789	C	T	38471789	5	4	79	1	0	0	0	0	0	0	1	0	588	666	23	1	965	1	AMPH	7	38471789	Splice_Site	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	224489	38471789	120666874	181	6648											
IKZF1	10320	broad.mit.edu	37	chr7	50455075	50455075	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaatgtggatattgtggcCgaagctataaacagcgaagc	11	7	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:50455075C>T	ENST00000331340.3	+	6	777	c.622C>T	c.(622-624)Cga>Tga	p.R208*	IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000343574.5_Nonsense_Mutation_p.R121*|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000438033.1_Nonsense_Mutation_p.R121*|IKZF1_ENST00000349824.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	208					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ATATTGTGGCCGAAGCTATAA	0.473			"D,T"	BCL6	"ALL, DLBCL"								False	0	False	7:50455075	0	T	50455075	C	T	50455075	4	4	79	1	0	0	0	0	0	1	0	0	7664	644	23	1	640	1	IKZF1	7	50455075	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	11983286	50455075	108683588	182	6649											
BAZ1B	9031	broad.mit.edu	37	chr7	72891240	72891240	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcccgttccttcttagcttGaatggcaagcaaccttctgc	7	13	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:72891240G>T	ENST00000339594.4	-	7	2889	c.2551C>A	c.(2551-2553)Caa>Aaa	p.Q851K	BAZ1B_ENST00000404251.1_Missense_Mutation_p.Q851K	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	851					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTTAGCTTGAATGGCAAGC	0.393													False	0	False	7:72891240	0	T	72891240	G	T	72891240	3	4	79	1	0	0	0	0	1	0	0	0	1334	1299	45	3	1952	3	BAZ1B	7	72891240	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	22436165	72891240	86247423	183	6650											
PCLO	27445	broad.mit.edu	37	chr7	82583922	82583923	+	Frame_Shift_Del	DEL	AG	AG	-													cactgctggtcgaatctgtaAgagacgctcctgagagaaca							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:82583922_82583923delAG	ENST00000423517.2	-	5	6683_6684	c.6346_6347delCT	c.(6346-6348)cttfs	p.L2116fs	PCLO_ENST00000333891.8_Frame_Shift_Del_p.L2116fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2047					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGAATCTGTAAGAGACGCTCCT	0.436													False	2	False	7:82583922	0	-	82583923	AG	-	82583922	7	5	79	1	0	1	0	1	0	0	0	0	11651	72	3	0	9182	0	PCLO	7	82583922	Frame_Shift_Del	DEL	AG	TCGA-HZ-A77Q-01A-11D-A36O-08	9692682	82583922	76554741	184	6651											
DYNC1I1	1780	broad.mit.edu	37	chr7	95614201	95614201	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatttctcatcttttttgacCggacaatacgggtaattgaa	7	7	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:95614201C>A	ENST00000324972.6	+	8	899	c.706C>A	c.(706-708)Cgg>Agg	p.R236R	DYNC1I1_ENST00000457059.1_Silent_p.R219R|DYNC1I1_ENST00000537881.1_Silent_p.R199R|DYNC1I1_ENST00000447467.2_Silent_p.R219R|DYNC1I1_ENST00000437599.1_Silent_p.R216R|DYNC1I1_ENST00000359388.4_Silent_p.R199R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	236					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTTTTTTGACCGGACAATACG	0.398													False	0	False	7:95614201	0	A	95614201	C	A	95614201	2	1	79	1	0	0	0	0	0	0	0	1	4872	643	23	3		3	DYNC1I1	7	95614201	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	13030279	95614201	63524462	185	6652											
OCM2	4951	broad.mit.edu	37	chr7	97617777	97617777	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcgttgtctatgaaccGgaaaacatccttcacctgac	8	12	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:97617777G>T	ENST00000257627.4	-	2	236	c.145C>A	c.(145-147)Cgg>Agg	p.R49R	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	49	EF-hand 1.						calcium ion binding			lung(4)	4						TCTATGAACCGGAAAACATCC	0.507													False	0	False	7:97617777	0	T	97617777	G	T	97617777	2	4	79	1	0	0	0	0	0	0	0	1	10890	1115	39	3		3	OCM2	7	97617777	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2003576	97617777	61520886	186	6653											
DNAJB9	4189	broad.mit.edu	37	chr7	108212278	108212278	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttaggtgtgccaaaatcGgcatcagagcgccaaatcaa	9	10	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:108212278G>T	ENST00000249356.3	+	2	654	c.108G>T	c.(106-108)tcG>tcT	p.S36S	DNAJB9_ENST00000465725.1_3'UTR	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	36	J.				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TGCCAAAATCGGCATCAGAGC	0.413													False	0	False	7:108212278	0	T	108212278	G	T	108212278	2	4	79	1	0	0	0	0	0	0	0	1	4657	1103	39	3		3	DNAJB9	7	108212278	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	10594501	108212278	50926385	187	6654											
ASB15	142685	broad.mit.edu	37	chr7	123269090	123269090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acatttcccagagctatgacGatgagaggaagactgcgctg	12	9	0	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:123269090G>A	ENST00000451558.1	+	12	1563	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	ASB15_ENST00000275699.3_Missense_Mutation_p.D348N|ASB15_ENST00000434204.1_Missense_Mutation_p.D348N|ASB15_ENST00000540573.1_Missense_Mutation_p.D348N|ASB15_ENST00000451215.1_Missense_Mutation_p.D348N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	348					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAGCTATGACGATGAGAGGAA	0.453													False	0	False	7:123269090	0	A	123269090	G	A	123269090	3	1	79	1	0	0	0	0	1	0	0	0	1023	1058	37	1	1068	1	ASB15	7	123269090	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	15056812	123269090	35869573	188	6655											
MKLN1	4289	broad.mit.edu	37	chr7	131148090	131148090	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaagaaaatgttagaaattCattctggatttatgacattg	9	3	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:131148090C>A	ENST00000352689.6	+	13	1680	c.1640C>A	c.(1639-1641)tCa>tAa	p.S547*	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Nonsense_Mutation_p.S455*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	547					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GTTAGAAATTCATTCTGGATT	0.348													False	0	True	7:131148090	0	A	131148090	C	A	131148090	4	1	79	1	0	0	0	0	0	1	0	0	9670	838	29	3	1723	3	MKLN1	7	131148090	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7879000	131148090	27990573	189	6656											
LRGUK	136332	broad.mit.edu	37	chr7	133827903	133827903	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcaatttcaagccaccCaaaaacctcaaggtagactt	4	12	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:133827903C>A	ENST00000285928.2	+	4	645	c.576C>A	c.(574-576)ccC>ccA	p.P192P		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	192							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TCAAGCCACCCAAAAACCTCA	0.343													False	0	True	7:133827903	0	A	133827903	C	A	133827903	2	1	79	1	0	0	0	0	0	0	0	1	9005	581	21	3		3	LRGUK	7	133827903	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2679813	133827903	25310760	190	6657											
TAS2R4	50832	broad.mit.edu	37	chr7	141478656	141478656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgtttctcctgctgaagcGgaatatctccccaaagatcc	8	12	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141478656G>T	ENST00000247881.2	+	1	415	c.368G>T	c.(367-369)cGg>cTg	p.R123L	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	123					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		CTGCTGAAGCGGAATATCTCC	0.478													False	0	False	7:141478656	0	T	141478656	G	T	141478656	3	4	79	1	0	0	0	0	1	0	0	0	15659	1116	39	3	370	3	TAS2R4	7	141478656	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7650753	141478656	17660007	191	6658											
OR9A4	130075	broad.mit.edu	37	chr7	141618684	141618684	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcttagaactaaatgttgatGaattactctagtgccactga	8	7	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141618684G>T	ENST00000548136.1	+	1	68	c.9G>T	c.(7-9)atG>atT	p.M3I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AAATGTTGATGAATTACTCTA	0.373													False	0	False	7:141618684	0	T	141618684	G	T	141618684	3	4	79	1	0	0	0	0	1	0	0	0	11317	1290	45	3	11	3	OR9A4	7	141618684	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	140028	141618684	17519979	192	6659											
TRPV6	55503	broad.mit.edu	37	chr7	142571251	142571251	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggccactcgccagtgagtgtCgcccatcatggcaatgagga	13	12	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142571251C>A	ENST00000359396.3	-	13	1983	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	580					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGTGAGTGTCGCCCATCATG	0.597													False	0	False	7:142571251	0	A	142571251	C	A	142571251	3	1	79	1	0	0	0	0	1	0	0	0	16683	884	31	3	451	3	TRPV6	7	142571251	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	952567	142571251	16567412	193	6660											
PIP	5304	broad.mit.edu	37	chr7	142836647	142836647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccgtcgttgatgttattcGggaattaggcatctgccctg	12	9	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142836647G>T	ENST00000291009.3	+	4	393	c.353G>T	c.(352-354)cGg>cTg	p.R118L		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	118						extracellular region	actin binding	p.R118L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GATGTTATTCGGGAATTAGGC	0.453													False	0	True	7:142836647	0	T	142836647	G	T	142836647	3	4	79	1	0	0	0	0	1	0	0	0	12004	1116	39	3	367	3	PIP	7	142836647	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	265396	142836647	16302016	194	6661											
EPHA1	2041	broad.mit.edu	37	chr7	143092480	143092480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcccatgatagttgcctctCgaaggaagttccaccactgg	11	12	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:143092480C>A	ENST00000275815.3	-	12	2101	c.2015G>T	c.(2014-2016)cGa>cTa	p.R672L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	672	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGTTGCCTCTCGAAGGAAGTT	0.567											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	7:143092480	0	A	143092480	C	A	143092480	3	1	79	1	0	0	0	0	1	0	0	0	5197	884	31	3	943	3	EPHA1	7	143092480	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	255833	143092480	16046183	195	6662											
CHPF2	54480	broad.mit.edu	37	chr7	150934530	150934530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctggcccgttgggctccCtgctcctttcacaccacact	9	17	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:150934530C>T	ENST00000035307.2	+	4	2595	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	CHPF2_ENST00000495645.1_Missense_Mutation_p.P353L	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	361						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTTGGGCTCCCTGCTCCTTTC	0.617													False	0	True	7:150934530	0	T	150934530	C	T	150934530	3	4	79	1	0	0	0	0	1	0	0	0	3392	681	24	2	1096	2	CHPF2	7	150934530	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7842050	150934530	8204133	196	6663											
GALNTL5	168391	broad.mit.edu	37	chr7	151716785	151716785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgtcacctacggaaatattCgcgagcgtgttgagttaagg	12	7	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:151716785C>A	ENST00000392800.2	+	9	1485	c.1231C>A	c.(1231-1233)Cgc>Agc	p.R411S	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R411S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	411						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.R411C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CGGAAATATTCGCGAGCGTGT	0.423													False	0	False	7:151716785	0	A	151716785	C	A	151716785	3	1	79	1	0	0	0	0	1	0	0	0	6267	884	31	3	1261	3	GALNTL5	7	151716785	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	782255	151716785	7421878	197	6664											
SLC7A2	6542	broad.mit.edu	37	chr8	17396408	17396408	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attggaacacctgccccaccGgtttgcgacagcaagtttct	9	13	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:17396408G>T	ENST00000470360.1	+	3	192	c.75G>T	c.(73-75)ccG>ccT	p.P25P	SLC7A2_ENST00000398090.3_Silent_p.P25P|SLC7A2_ENST00000004531.10_Silent_p.P25P|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000522656.1_Intron			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	0					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGCCCCACCGGTTTGCGACA	0.418													False	0	False	8:17396408	0	T	17396408	G	T	17396408	2	4	79	1	0	0	0	0	0	0	0	1	14777	1103	39	3		3	SLC7A2	8	17396408	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		17396408	128967614	198	6665											
MTUS1	57509	broad.mit.edu	37	chr8	17570754	17570754	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctgtaaataaattttttctCgaaggacctaagatataaaa	6	5	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:17570754C>A	ENST00000381869.3	-	5	2903	c.2430G>T	c.(2428-2430)tcG>tcT	p.S810S	MTUS1_ENST00000544260.1_Silent_p.S9S|MTUS1_ENST00000262102.6_Silent_p.S864S|MTUS1_ENST00000519263.1_Silent_p.S810S|MTUS1_ENST00000381861.3_Silent_p.S111S	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	864						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AATTTTTTCTCGAAGGACCTA	0.264													False	0	False	8:17570754	0	A	17570754	C	A	17570754	2	1	79	1	0	0	0	0	0	0	0	1	10032	871	31	3		3	MTUS1	8	17570754	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	174346	17570754	128793268	199	6666											
GSR	2936	broad.mit.edu	37	chr8	30539560	30539560	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaagtcgatgggcaagttttCggccagcagctattgcaact	11	9	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:30539560C>A	ENST00000221130.5	-	11	1262	c.1172G>T	c.(1171-1173)cGa>cTa	p.R391L	GSR_ENST00000541648.1_Missense_Mutation_p.R338L|GSR_ENST00000537535.1_Missense_Mutation_p.R309L|GSR_ENST00000414019.1_Missense_Mutation_p.R348L|GSR_ENST00000546342.1_Missense_Mutation_p.R362L	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	391					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	GGCAAGTTTTCGGCCAGCAGC	0.383													False	0	True	8:30539560	0	A	30539560	C	A	30539560	3	1	79	1	0	0	0	0	1	0	0	0	6875	884	31	3	408	3	GSR	8	30539560	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	12968806	30539560	115824462	200	6667											
THAP1	55145	broad.mit.edu	37	chr8	42693251	42693251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgcatcgctgctgtgCggtcttgagcttctttctga	10	12	4	2	rs138918468		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:42693251C>T	ENST00000254250.3	-	3	726	c.496G>A	c.(496-498)Gca>Aca	p.A166T	THAP1_ENST00000345117.2_3'UTR	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	166					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGCTGCTGTGCGGTCTTGAGC	0.443													False	0	False	8:42693251	0	T	42693251	C	T	42693251	3	4	79	1	0	0	0	0	1	0	0	0	15923	768	27	1	149	1	THAP1	8	42693251	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	12153691	42693251	103670771	201	6668											
VCPIP1	80124	broad.mit.edu	37	chr8	67577279	67577279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaactaggatttcactccCaaattcacctggaaagtgct	7	11	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:67577279C>A	ENST00000310421.4	-	1	2173	c.1915G>T	c.(1915-1917)Ggg>Tgg	p.G639W		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	639					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATTTCACTCCCAAATTCACCT	0.363													False	0	True	8:67577279	0	A	67577279	C	A	67577279	3	1	79	1	0	0	0	0	1	0	0	0	17225	594	21	3	1765	3	VCPIP1	8	67577279	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	24884028	67577279	78786743	202	6669											
TCEB1	6921	broad.mit.edu	37	chr8	74858992	74858992	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taaaatacatgcatactttcGatagcacatgtgaaggtatc	7	7	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:74858992G>T	ENST00000518127.1	-	4	304	c.212C>A	c.(211-213)tCg>tAg	p.S71*	TCEB1_ENST00000523815.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000284811.8_Nonsense_Mutation_p.S71*|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000522337.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000519487.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520210.1_Nonsense_Mutation_p.S55*|TCEB1_ENST00000520242.1_Nonsense_Mutation_p.S71*	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	71					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			GCATACTTTCGATAGCACATG	0.398													False	0	False	8:74858992	0	T	74858992	G	T	74858992	4	4	79	1	0	0	0	0	0	1	0	0	15761	1059	37	3	130	3	TCEB1	8	74858992	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7281713	74858992	71505030	203	6670											
ZFHX4	79776	broad.mit.edu	37	chr8	77766289	77766289	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcagctaaaaacgctgctGcccctgcagcaagttctggc	10	13	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:77766289G>T	ENST00000521891.2	+	10	7580	c.7132G>T	c.(7132-7134)Gcc>Tcc	p.A2378S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2333S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2333S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2352S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2333	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAACGCTGCTGCCCCTGCAGC	0.512										HNSCC(33;0.089)			False	0	True	8:77766289	0	T	77766289	G	T	77766289	3	4	79	1	0	0	0	0	1	0	0	0	17718	1319	46	3	7166	3	ZFHX4	8	77766289	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2907297	77766289	68597733	204	6671											
CA1	759	broad.mit.edu	37	chr8	86250487	86250487	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctttcagctcacctgatcGgttatcgttgtcctcaaaat	7	11	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:86250487G>T	ENST00000523953.1	-	4	1275	c.229C>A	c.(229-231)Cga>Aga	p.R77R	CA1_ENST00000431316.1_Silent_p.R77R|CA1_ENST00000256119.5_Silent_p.R77R|CA1_ENST00000432364.2_Silent_p.R77R|CA1_ENST00000522389.1_Intron|CA1_ENST00000542576.1_Silent_p.R77R|CA1_ENST00000523022.1_Silent_p.R77R|CA1_ENST00000518341.1_5'UTR			P00915	CAH1_HUMAN	carbonic anhydrase I	77					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TCACCTGATCGGTTATCGTTG	0.393													False	0	False	8:86250487	0	T	86250487	G	T	86250487	2	4	79	1	0	0	0	0	0	0	0	1	2530	1124	39	3		3	CA1	8	86250487	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8484198	86250487	60113535	205	6672											
OSGIN2	734	broad.mit.edu	37	chr8	90926876	90926876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatccagatgctgactttGggtatgattatccatccgtt	8	9	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:90926876G>T	ENST00000451899.2	+	4	690	c.430G>T	c.(430-432)Ggg>Tgg	p.G144W	OSGIN2_ENST00000520659.1_Missense_Mutation_p.G144W|OSGIN2_ENST00000297438.2_Missense_Mutation_p.G100W	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	100					germ cell development|meiosis			p.G100W(1)|p.G144W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGCTGACTTTGGGTATGATTA	0.448													False	0	True	8:90926876	0	T	90926876	G	T	90926876	3	4	79	1	0	0	0	0	1	0	0	0	11358	1348	47	3	444	3	OSGIN2	8	90926876	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4676389	90926876	55437146	206	6673											
SLC26A7	115111	broad.mit.edu	37	chr8	92364116	92364116	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgctttactggctgcccatgGtacggtagtgctttttcact	10	10	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:92364116G>C	ENST00000276609.3	+	10	1457		c.e10+1		SLC26A7_ENST00000523719.1_Splice_Site|SLC26A7_ENST00000309536.2_Splice_Site|SLC26A7_ENST00000520249.1_Splice_Site	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7							basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCTGCCCATGGTACGGTAGTG	0.343													False	0	False	8:92364116	0	C	92364116	G	C	92364116	5	2	79	1	0	0	0	0	0	0	1	0	14602	1275	44	5	1253	5	SLC26A7	8	92364116	Splice_Site	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1437240	92364116	53999906	207	6674											
VPS13B	157680	broad.mit.edu	37	chr8	100123331	100123331	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttttctttttagcaactGatttggtgctgagaaaggtt	9	4	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:100123331G>T	ENST00000395996.1	+	6	697	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	VPS13B_ENST00000355155.1_Missense_Mutation_p.D196Y|VPS13B_ENST00000358544.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000357162.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000441350.2_Missense_Mutation_p.D196Y			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	196					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTAGCAACTGATTTGGTGCT	0.274													False	0	False	8:100123331	0	T	100123331	G	T	100123331	3	4	79	1	0	0	0	0	1	0	0	0	17274	1290	45	3	604	3	VPS13B	8	100123331	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7759215	100123331	46240691	208	6675											
RNF19A	25897	broad.mit.edu	37	chr8	101276930	101276930	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcagctactactggagacacGattacagacaacgttacacc	8	12	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:101276930G>T	ENST00000519449.1	-	7	1591	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	RNF19A_ENST00000341084.2_Silent_p.I425I|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	425					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTGGAGACACGATTACAGACA	0.363													False	0	False	8:101276930	0	T	101276930	G	T	101276930	2	4	79	1	0	0	0	0	0	0	0	1	13549	1048	37	3		3	RNF19A	8	101276930	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1153599	101276930	45087092	209	6676											
EBAG9	9166	broad.mit.edu	37	chr8	110576764	110576764	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaatgaagaaggaacaaaaCaaaattggtgtgaaactttc	8	5	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:110576764C>A	ENST00000337573.5	+	7	918	c.618C>A	c.(616-618)aaC>aaA	p.N206K	EBAG9_ENST00000395785.2_Missense_Mutation_p.N206K|EBAG9_ENST00000531677.1_Missense_Mutation_p.N251K	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	206					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			AGGAACAAAACAAAATTGGTG	0.388													False	0	True	8:110576764	0	A	110576764	C	A	110576764	3	1	79	1	0	0	0	0	1	0	0	0	4909	477	17	3	640	3	EBAG9	8	110576764	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9299834	110576764	35787258	210	6677											
PHF20L1	51105	broad.mit.edu	37	chr8	133790126	133790126	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcacttttgagattggtgctCgtttggaggcactggactac	12	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:133790126C>A	ENST00000395386.2	+	2	351	c.52C>A	c.(52-54)Cgt>Agt	p.R18S	PHF20L1_ENST00000395379.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000337920.4_Missense_Mutation_p.R18S|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R18S|PHF20L1_ENST00000395376.1_Missense_Mutation_p.R18S	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	18	Tudor 1.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATTGGTGCTCGTTTGGAGGC	0.363													False	0	False	8:133790126	0	A	133790126	C	A	133790126	3	1	79	1	0	0	0	0	1	0	0	0	11901	884	31	3	54	3	PHF20L1	8	133790126	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	23213362	133790126	12573896	211	6678											
CBWD1	55871	broad.mit.edu	37	chr9	172100	172100	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtctgctaatccagtGgtctctaacagtatgtaatc	9	10	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:172100G>T	ENST00000377447.3	-	4	466	c.411C>A	c.(409-411)acC>acA	p.T137T	CBWD1_ENST00000431099.2_Silent_p.T101T|CBWD1_ENST00000382393.1_3'UTR|CBWD1_ENST00000382447.4_Silent_p.T137T|CBWD1_ENST00000314367.10_Silent_p.T101T|CBWD1_ENST00000377400.4_Silent_p.T137T|CBWD1_ENST00000356521.4_Silent_p.T137T			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	137							ATP binding|protein binding			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTAATCCAGTGGTCTCTAACA	0.338													False	0	False	9:172100	0	T	172100	G	T	172100	2	4	79	1	0	0	0	0	0	0	0	1	2732	1335	47	3		3	CBWD1	9	172100	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		172100	141041331	212	6679											
KIAA1432	57589	broad.mit.edu	37	chr9	5763327	5763327	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattccttcttgtcccagcGgatcatgctgcctttccaca	6	16	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:5763327G>T	ENST00000414202.2	+	19	2491	c.2300G>T	c.(2299-2301)cGg>cTg	p.R767L	KIAA1432_ENST00000251879.6_Missense_Mutation_p.R767L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R688L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R688L|KIAA1432_ENST00000449720.2_Missense_Mutation_p.R651L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	767						integral to membrane		p.R688L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTGTCCCAGCGGATCATGCTG	0.517													False	0	False	9:5763327	0	T	5763327	G	T	5763327	3	4	79	1	0	0	0	0	1	0	0	0	8283	1116	39	3	2133	3	KIAA1432	9	5763327	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5591227	5763327	135450104	213	6680											
SNAPC3	6619	broad.mit.edu	37	chr9	15459726	15459726	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaaaactacagatgggtgacGaacaatgacagttttgcacc	9	8	0	3	rs113748924	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:15459726G>T	ENST00000380821.3	+	9	1274	c.1098G>T	c.(1096-1098)acG>acT	p.T366T		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	366					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GATGGGTGACGAACAATGACA	0.373													False	0	False	9:15459726	0	T	15459726	G	T	15459726	2	4	79	1	0	0	0	0	0	0	0	1	14916	1045	37	3		3	SNAPC3	9	15459726	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	9696399	15459726	125753705	214	6681											
ACO1	48	broad.mit.edu	37	chr9	32408531	32408531	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggggtgtgcccgctgtggttGactttgctgcaatgcgtgat	16	8	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:32408531G>T	ENST00000309951.6	+	4	424	c.286G>T	c.(286-288)Gac>Tac	p.D96Y	ACO1_ENST00000379923.1_Missense_Mutation_p.D96Y|ACO1_ENST00000541043.1_5'UTR	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGCTGTGGTTGACTTTGCTGC	0.418													False	0	False	9:32408531	0	T	32408531	G	T	32408531	3	4	79	1	0	0	0	0	1	0	0	0	146	1290	45	3	296	3	ACO1	9	32408531	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	16948805	32408531	108804900	215	6682											
AGTPBP1	23287	broad.mit.edu	37	chr9	88200500	88200500	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgggaatggccatgataatCacaataaaccttgaaaatat	7	7	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:88200500C>A	ENST00000357081.3	-	23	3187	c.3043G>T	c.(3043-3045)Gat>Tat	p.D1015Y	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.D1027Y|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.D975Y			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1015					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CCATGATAATCACAATAAACC	0.313													False	0	False	9:88200500	0	A	88200500	C	A	88200500	3	1	79	1	0	0	0	0	1	0	0	0	400	826	29	3	653	3	AGTPBP1	9	88200500	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	55791969	88200500	53012931	216	6683											
FAM120A	23196	broad.mit.edu	37	chr9	96261114	96261114	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgatttaagagagcaattGgatattattcagcgactagt	9	5	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:96261114G>T	ENST00000277165.6	+	5	1170	c.976G>T	c.(976-978)Gga>Tga	p.G326*	FAM120A_ENST00000375389.3_Nonsense_Mutation_p.G326*|FAM120A_ENST00000333936.5_Nonsense_Mutation_p.G326*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.G326*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	326						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGAGCAATTGGATATTATTC	0.353													False	0	False	9:96261114	0	T	96261114	G	T	96261114	4	4	79	1	0	0	0	0	0	1	0	0	5451	1349	47	3	994	3	FAM120A	9	96261114	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8060614	96261114	44952317	217	6684											
IKBKAP	8518	broad.mit.edu	37	chr9	111678495	111678495	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcttaccacaggttttcGgaatggagctttcttctctc	8	11	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:111678495G>T	ENST00000374647.5	-	10	1254	c.947C>A	c.(946-948)cCg>cAg	p.P316Q	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	316					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGGTTTTCGGAATGGAGCT	0.453													False	0	False	9:111678495	0	T	111678495	G	T	111678495	3	4	79	1	0	0	0	0	1	0	0	0	7660	1116	39	3	3163	3	IKBKAP	9	111678495	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	15417381	111678495	29534936	218	6685											
CTNNAL1	8727	broad.mit.edu	37	chr9	111761453	111761453	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatcttccaactgccaagttGacagcttgtcctacacgctg	7	13	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:111761453G>T	ENST00000374595.4	-	2	304	c.225C>A	c.(223-225)gtC>gtA	p.V75V	CTNNAL1_ENST00000325580.6_Silent_p.V75V|CTNNAL1_ENST00000374593.4_Silent_p.V75V|CTNNAL1_ENST00000325551.4_Silent_p.V75V			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	75					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CTGCCAAGTTGACAGCTTGTC	0.328													False	0	False	9:111761453	0	T	111761453	G	T	111761453	2	4	79	1	0	0	0	0	0	0	0	1	4040	1277	45	3		3	CTNNAL1	9	111761453	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	82958	111761453	29451978	219	6686											
LPAR1	1902	broad.mit.edu	37	chr9	113703751	113703751	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcatggtatcccgattcCgccggggtccagaactatgc	10	13	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:113703751C>A	ENST00000374431.3	-	4	1126	c.743G>T	c.(742-744)cGg>cTg	p.R248L	LPAR1_ENST00000541779.1_Missense_Mutation_p.R249L|LPAR1_ENST00000538760.1_Missense_Mutation_p.R249L|LPAR1_ENST00000358883.4_Missense_Mutation_p.R248L|LPAR1_ENST00000374430.2_Missense_Mutation_p.R248L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	248					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATCCCGATTCCGCCGGGGTCC	0.453													False	0	False	9:113703751	0	A	113703751	C	A	113703751	3	1	79	1	0	0	0	0	1	0	0	0	8966	652	23	3	359	3	LPAR1	9	113703751	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1942298	113703751	27509680	220	6687											
GARNL3	84253	broad.mit.edu	37	chr9	130027240	130027240	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttgttccagctctgtctcGgaagacctaggctgtagacg	11	10	2	2	rs141855938		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:130027240G>T	ENST00000373387.4	+	1	436	c.84G>T	c.(82-84)tcG>tcT	p.S28S	GARNL3_ENST00000435213.2_Silent_p.S6S|GARNL3_ENST00000314904.5_Silent_p.S28S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	28					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCTCTGTCTCGGAAGACCTAG	0.423													False	0	False	9:130027240	0	T	130027240	G	T	130027240	2	4	79	1	0	0	0	0	0	0	0	1	6284	1103	39	3		3	GARNL3	9	130027240	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	16323489	130027240	11186191	221	6688											
GPR107	0	broad.mit.edu	37	chr9	132854660	132854660	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatatccttcgaaaacgacGgtaaactatttctcccttca	4	12	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:132854660G>T	ENST00000372406.1	+	9	1370	c.863G>T	c.(862-864)cGg>cTg	p.R288L	GPR107_ENST00000372410.3_Splice_Site_p.R288L|GPR107_ENST00000347136.6_Splice_Site_p.R288L	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	288						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CGAAAACGACGGTAAACTATT	0.418													False	0	False	9:132854660	0	T	132854660	G	T	132854660	5	4	79	1	0	0	0	0	0	0	1	0	6669	1130	39	3	897	3	GPR107	9	132854660	Splice_Site	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2827420	132854660	8358771	222	6689											
BARHL1	56751	broad.mit.edu	37	chr9	135462791	135462791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaaaagccacgcaaggCgcgcacggccttcaccgacc	10	17	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:135462791C>T	ENST00000263610.2	+	2	1155	c.542C>T	c.(541-543)gCg>gTg	p.A181V	BARHL1_ENST00000542090.1_Missense_Mutation_p.A181V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	181						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CCACGCAAGGCGCGCACGGCC	0.677													False	0	True	9:135462791	0	T	135462791	C	T	135462791	3	4	79	1	0	0	0	0	1	0	0	0	1317	768	27	1	548	1	BARHL1	9	135462791	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2608131	135462791	5750640	223	6690											
GDI2	2665	broad.mit.edu	37	chr10	5827938	5827938	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgccttcaaaagttcttGgatctttttcatcgaagttg	7	8	4	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:5827938G>T	ENST00000380191.4	-	5	754	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	GDI2_ENST00000380181.3_Missense_Mutation_p.P110Q|GDI2_ENST00000380132.4_Missense_Mutation_p.P159Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	155					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AAAAGTTCTTGGATCTTTTTC	0.348													False	0	False	10:5827938	0	T	5827938	G	T	5827938	3	4	79	1	0	0	0	0	1	0	0	0	6366	1348	47	3	901	3	GDI2	10	5827938	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		5827938	129706809	224	6691											
FRMD4A	55691	broad.mit.edu	37	chr10	13712473	13712473	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctattcttctccgaacaatgGgtggttcctcccctggatcc	8	14	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:13712473G>T	ENST00000357447.2	-	17	1675	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H	FRMD4A_ENST00000358621.4_Missense_Mutation_p.P421H|FRMD4A_ENST00000378503.1_Missense_Mutation_p.P436H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	436						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCGAACAATGGGTGGTTCCTC	0.502													False	0	True	10:13712473	0	T	13712473	G	T	13712473	3	4	79	1	0	0	0	0	1	0	0	0	6093	1232	43	3	1844	3	FRMD4A	10	13712473	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7884535	13712473	121822274	225	6692											
PDSS1	23590	broad.mit.edu	37	chr10	26998640	26998640	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgggaaagggaaagcctttcGaccaattattgtggcgctaa	12	7	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:26998640G>T	ENST00000376215.5	+	5	463	c.410G>T	c.(409-411)cGa>cTa	p.R137L	PDSS1_ENST00000376203.5_Missense_Mutation_p.R137L	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	137					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AAAGCCTTTCGACCAATTATT	0.383													False	0	False	10:26998640	0	T	26998640	G	T	26998640	3	4	79	1	0	0	0	0	1	0	0	0	11761	1058	37	3	428	3	PDSS1	10	26998640	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	13286167	26998640	108536107	226	6693											
SVIL	6840	broad.mit.edu	37	chr10	29788191	29788191	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctcgactttctgtgaccCgctgttcataaatgtacaga	7	11	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:29788191C>A	ENST00000375398.2	-	20	3967	c.3518G>T	c.(3517-3519)cGg>cTg	p.R1173L	SVIL_ENST00000355867.4_Splice_Site_p.R1173L|SVIL_ENST00000535393.1_Splice_Site_p.R87L|SVIL_ENST00000375400.3_Splice_Site_p.R747L			O95425	SVIL_HUMAN	supervillin	1173					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCTGTGACCCGCTGTTCATA	0.507													False	0	True	10:29788191	0	A	29788191	C	A	29788191	5	1	79	1	0	0	0	0	0	0	1	0	15503	666	23	3	3210	3	SVIL	10	29788191	Splice_Site	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2789551	29788191	105746556	227	6694											
CCDC7	221016	broad.mit.edu	37	chr10	32780874	32780874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgctcattcaatgactaatcGatttaatgccatgttgaaag	7	7	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:32780874G>T	ENST00000362006.5	+	10	1364	c.821G>T	c.(820-822)cGa>cTa	p.R274L	CCDC7_ENST00000277657.6_Missense_Mutation_p.R274L|CCDC7_ENST00000537047.1_3'UTR|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000539197.1_Intron	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	274										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				ATGACTAATCGATTTAATGCC	0.249													False	0	False	10:32780874	0	T	32780874	G	T	32780874	3	4	79	1	0	0	0	0	1	0	0	0	2863	1058	37	3	855	3	CCDC7	10	32780874	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2992683	32780874	102753873	228	6695											
ANK3	288	broad.mit.edu	37	chr10	61824022	61824022	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttgattgatttcatccactGaaaaattcagttcccttgcc	5	10	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:61824022G>T	ENST00000280772.2	-	39	12535	c.12344C>A	c.(12343-12345)tCa>tAa	p.S4115*	ANK3_ENST00000503366.1_Nonsense_Mutation_p.S1503*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.S636*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.S1496*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)		Death.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCATCCACTGAAAAATTCAG	0.313													False	0	True	10:61824022	0	T	61824022	G	T	61824022	4	4	79	1	0	0	0	0	0	1	0	0	622	1294	45	3	1122	3	ANK3	10	61824022	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	29043148	61824022	73710725	229	6696											
TET1	80312	broad.mit.edu	37	chr10	70450608	70450608	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagtaaaaagtgaaacCgaaccccattttatcttaaa	5	9	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:70450608C>A	ENST00000373644.4	+	12	5657	c.5448C>A	c.(5446-5448)acC>acA	p.T1816T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1816					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAGTGAAACCGAACCCCATT	0.428													False	0	False	10:70450608	0	A	70450608	C	A	70450608	2	1	79	1	0	0	0	0	0	0	0	1	15851	639	23	3		3	TET1	10	70450608	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8626586	70450608	65084139	230	6697											
ANXA11	311	broad.mit.edu	37	chr10	81930605	81930605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccgcataggtggccacgTtatccagcccgatggggggc	15	14	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:81930605T>C	ENST00000438331.1	-	5	604	c.122A>G	c.(121-123)aAc>aGc	p.N41S	ANXA11_ENST00000372231.3_Missense_Mutation_p.N41S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N41S|ANXA11_ENST00000535999.1_Missense_Mutation_p.N41S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N41S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N8S|ANXA11_ENST00000422982.3_Missense_Mutation_p.N41S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	41					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	p.N41I(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGTGGCCACGTTATCCAGCCC	0.652													False	0	False	10:81930605	0	C	81930605	T	C	81930605	3	2	79	1	0	0	0	0	1	0	0	0	716	1725	60	4	1447	4	ANXA11	10	81930605	Missense_Mutation	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08	11479997	81930605	53604142	231	6698											
IFIT1	3434	broad.mit.edu	37	chr10	91162663	91162663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccctaaggcaggctgtcCgcttaaatccagacaatgga	9	12	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:91162663C>A	ENST00000546318.1	+	2	1825	c.538C>A	c.(538-540)Cgc>Agc	p.R180S	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.R211S	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	211					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCAGGCTGTCCGCTTAAATCC	0.458													False	0	False	10:91162663	0	A	91162663	C	A	91162663	3	1	79	1	0	0	0	0	1	0	0	0	7571	652	23	3	637	3	IFIT1	10	91162663	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9232058	91162663	44372084	232	6699											
DNTT	1791	broad.mit.edu	37	chr10	98092312	98092312	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atttagttctgtgcccctacGagcgtcgtgcctttgccctg	10	13	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:98092312G>T	ENST00000419175.1	+	9	1488	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	DNTT_ENST00000371174.2_Nonsense_Mutation_p.E440*	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	440	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GTGCCCCTACGAGCGTCGTGC	0.542													False	0	False	10:98092312	0	T	98092312	G	T	98092312	4	4	79	1	0	0	0	0	0	1	0	0	4710	1059	37	3	1352	3	DNTT	10	98092312	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6929649	98092312	37442435	233	6700											
BTRC	8945	broad.mit.edu	37	chr10	103292106	103292106	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttacagagaattcactgcCgaagtgaaacaagcaaagga	10	7	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:103292106C>A	ENST00000370187.3	+	8	1013	c.895C>A	c.(895-897)Cga>Aga	p.R299R	BTRC_ENST00000393441.4_Silent_p.R258R|BTRC_ENST00000408038.2_Silent_p.R263R	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AATTCACTGCCGAAGTGAAAC	0.398													False	0	False	10:103292106	0	A	103292106	C	A	103292106	2	1	79	1	0	0	0	0	0	0	0	1	1576	644	23	3		3	BTRC	10	103292106	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5199794	103292106	32242641	234	6701											
OBFC1	79991	broad.mit.edu	37	chr10	105664909	105664909	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttataactccagtgctgtCatccactgcaagagaaaagc	8	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:105664909C>A	ENST00000224950.3	-	4	402	c.235G>T	c.(235-237)Gac>Tac	p.D79Y	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.D79Y	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	79					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		CCAGTGCTGTCATCCACTGCA	0.398													False	0	False	10:105664909	0	A	105664909	C	A	105664909	3	1	79	1	0	0	0	0	1	0	0	0	10875	826	29	3	899	3	OBFC1	10	105664909	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2372803	105664909	29869838	235	6702											
ACADSB	36	broad.mit.edu	37	chr10	124797320	124797320	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcaaccatggatgaaaattCgaaaatggagaaatcagtaa	8	5	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:124797320C>A	ENST00000358776.4	+	3	274	c.260C>A	c.(259-261)tCg>tAg	p.S87*	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Intron	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	87					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	p.S87L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GATGAAAATTCGAAAATGGAG	0.313													False	0	False	10:124797320	0	A	124797320	C	A	124797320	4	1	79	1	0	0	0	0	0	1	0	0	115	893	31	3	270	3	ACADSB	10	124797320	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	19132411	124797320	10737427	236	6703											
ZRANB1	54764	broad.mit.edu	37	chr10	126662279	126662279	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtgcttgatagagacgttCaaaaaggtaagcatggaatt	12	4	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:126662279C>A	ENST00000359653.4	+	4	1593	c.1222C>A	c.(1222-1224)Caa>Aaa	p.Q408K		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	408	TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TAGAGACGTTCAAAAAGGTAA	0.328													False	0	True	10:126662279	0	A	126662279	C	A	126662279	3	1	79	1	0	0	0	0	1	0	0	0	18304	827	29	3	1236	3	ZRANB1	10	126662279	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1864959	126662279	8872468	237	6704											
ZNF511	118472	broad.mit.edu	37	chr10	135126314	135126314	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccctctaccatctgctttGgtcagggtgccgctcgagga	11	13	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:135126314G>T	ENST00000361518.5	+	6	1172	c.703G>T	c.(703-705)Ggt>Tgt	p.G235C	ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000359035.3_3'UTR	NM_145806.2	NP_665805.2	Q8NB15	ZN511_HUMAN	zinc finger protein 511	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CATCTGCTTTGGTCAGGGTGC	0.473													False	0	True	10:135126314	0	T	135126314	G	T	135126314	3	4	79	1	0	0	0	0	1	0	0	0	18038	1348	47	3	725	3	ZNF511	10	135126314	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8464035	135126314	408433	238	6705											
OR51A4	401666	broad.mit.edu	37	chr11	4967898	4967898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagaatactatccctatttGggcaactctgacagttgtca	9	9	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:4967898G>T	ENST00000380373.2	-	1	458	c.433C>A	c.(433-435)Caa>Aaa	p.Q145K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCCTATTTGGGCAACTCTG	0.428													False	0	True	11:4967898	0	T	4967898	G	T	4967898	3	4	79	1	0	0	0	0	1	0	0	0	11155	1357	47	3	510	3	OR51A4	11	4967898	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		4967898	130038618	239	6706											
OR52E8	390079	broad.mit.edu	37	chr11	5878217	5878217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggtgttgagagctttgagtCgagcttcccaggagggcagg	17	7	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:5878217C>A	ENST00000537935.1	-	1	747	c.716G>T	c.(715-717)cGa>cTa	p.R239L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTTTGAGTCGAGCTTCCCA	0.418													False	0	False	11:5878217	0	A	5878217	C	A	5878217	3	1	79	1	0	0	0	0	1	0	0	0	11186	884	31	3	239	3	OR52E8	11	5878217	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	910319	5878217	129128299	240	6707											
SYT9	143425	broad.mit.edu	37	chr11	7335003	7335003	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaagtgtttttatttcCggttccctacaatgaccttg	8	8	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:7335003C>A	ENST00000318881.6	+	3	1112	c.875C>A	c.(874-876)cCg>cAg	p.P292Q	SYT9_ENST00000396716.2_Missense_Mutation_p.P260Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	292	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTTTTATTTCCGGTTCCCTAC	0.433													False	0	False	11:7335003	0	A	7335003	C	A	7335003	3	1	79	1	0	0	0	0	1	0	0	0	15563	652	23	3	885	3	SYT9	11	7335003	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1456786	7335003	127671513	241	6708											
EIF4G2	1982	broad.mit.edu	37	chr11	10823915	10823915	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctgggtggcatgaacGgtccctccagaaagaagtca	11	11	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:10823915G>T	ENST00000526148.1	-	12	1574	c.1064C>A	c.(1063-1065)cCg>cAg	p.P355Q	EIF4G2_ENST00000396525.2_Missense_Mutation_p.P355Q|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P355Q|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P355Q	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	355					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGCATGAACGGTCCCTCCAG	0.438													False	0	False	11:10823915	0	T	10823915	G	T	10823915	3	4	79	1	0	0	0	0	1	0	0	0	5069	1116	39	3	1703	3	EIF4G2	11	10823915	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3488912	10823915	124182601	242	6709											
USH1C	10083	broad.mit.edu	37	chr11	17523526	17523527	+	Splice_Site	INS	-	-	ATGAGGAAGGCTTTGA													ttcctcatatttccggaaatINScctggaagcaaagggagggc							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:17523526_17523527insATGAGGAAGGCTTTGA	ENST00000005226.7	-	21	2184_2185	c.2185_2186insTCAAAGCCTTCCTCAT	c.(2185-2187)gat>gTCAAAGCCTTCCTCATat	p.D729fs	USH1C_ENST00000527020.1_Splice_Site_p.D410fs|USH1C_ENST00000527720.1_Splice_Site_p.D398fs|USH1C_ENST00000318024.4_Splice_Site_p.D429fs|USH1C_ENST00000529563.1_5'UTR	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	429					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTTCCGGAAATCCTGGAAGCAA	0.54													False	0	False	11:17523526	0	ATGAGGAAGGCTTTGA	17523527	-	ATGAGGAAGGCTTTGA	17523526	8	5	79	1	0	1	1	0	0	0	1	0	17118	1449	50	0	541	0	USH1C	11	17523526	Splice_Site	INS	-	TCGA-HZ-A77Q-01A-11D-A36O-08	6699611	17523526	117482990	243	6710											
TRAF6	7189	broad.mit.edu	37	chr11	36518716	36518716	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaagaaacctgtctccttGgacaatccttcagaatgtga	7	11	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:36518716G>T	ENST00000526995.1	-	4	794	c.548C>A	c.(547-549)cCa>cAa	p.P183Q	TRAF6_ENST00000348124.5_Missense_Mutation_p.P183Q	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	183	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CTGTCTCCTTGGACAATCCTT	0.383													False	0	False	11:36518716	0	T	36518716	G	T	36518716	3	4	79	1	0	0	0	0	1	0	0	0	16528	1348	47	3	1036	3	TRAF6	11	36518716	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	18995190	36518716	98487800	244	6711											
FOLH1	2346	broad.mit.edu	37	chr11	49208253	49208253	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaattttcccagagcaattGattttcatgtcccgttccaa	5	11	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:49208253G>T	ENST00000340334.7	-	6	905	c.537C>A	c.(535-537)atC>atA	p.I179I	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.I179I|FOLH1_ENST00000356696.3_Silent_p.I194I|FOLH1_ENST00000256999.2_Silent_p.I194I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	194					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CAGAGCAATTGATTTTCATGT	0.363													False	0	False	11:49208253	0	T	49208253	G	T	49208253	2	4	79	1	0	0	0	0	0	0	0	1	6019	1280	45	3		3	FOLH1	11	49208253	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	12689537	49208253	85798263	245	6712											
OR5T3	390154	broad.mit.edu	37	chr11	56020051	56020051	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataaatccatttcatttatcGgatgtgcaacacagatgctt	6	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56020051G>T	ENST00000303059.3	+	1	376	c.376G>T	c.(376-378)Gga>Tga	p.G126*		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363													False	0	False	11:56020051	0	T	56020051	G	T	56020051	4	4	79	1	0	0	0	0	0	1	0	0	11251	1117	39	3	378	3	OR5T3	11	56020051	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6811798	56020051	78986465	246	6713											
OR5T1	390155	broad.mit.edu	37	chr11	56043180	56043180	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaattttactgaagtcacCatgtttatattaataagctt	4	6	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56043180C>A	ENST00000313033.2	+	1	152	c.66C>A	c.(64-66)acC>acA	p.T22T		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTGAAGTCACCATGTTTATAT	0.299													False	0	False	11:56043180	0	A	56043180	C	A	56043180	2	1	79	1	0	0	0	0	0	0	0	1	11249	581	21	3		3	OR5T1	11	56043180	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	23129	56043180	78963336	247	6714											
OR8H1	219469	broad.mit.edu	37	chr11	56058331	56058331	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacagttgagtaactgaggtCaataaatgacaagtgagtaa	11	4	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56058331C>A	ENST00000313022.2	-	1	235	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TAACTGAGGTCAATAAATGAC	0.413													False	0	False	11:56058331	0	A	56058331	C	A	56058331	3	1	79	1	0	0	0	0	1	0	0	0	11305	826	29	3	729	3	OR8H1	11	56058331	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	15151	56058331	78948185	248	6715											
DDB1	1642	broad.mit.edu	37	chr11	61070620	61070620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tccagttgggattaaagtctCgagcaatcttaaaacagaca	8	8	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:61070620C>A	ENST00000301764.7	-	23	3237	c.2840G>T	c.(2839-2841)cGa>cTa	p.R947L	DDB1_ENST00000538470.1_5'UTR|DDB1_ENST00000450997.2_Missense_Mutation_p.R258L	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	947	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATTAAAGTCTCGAGCAATCTT	0.413								Nucleotide excision repair (NER)					False	0	False	11:61070620	0	A	61070620	C	A	61070620	3	1	79	1	0	0	0	0	1	0	0	0	4348	884	31	3	602	3	DDB1	11	61070620	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5012289	61070620	73935896	249	6716											
AHNAK	79026	broad.mit.edu	37	chr11	62297572	62297572	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atactcatttctggcatcttGaatttgggaccttttagttt	7	7	3	1	rs141288622	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:62297572G>T	ENST00000378024.4	-	5	4591	c.4317C>A	c.(4315-4317)ttC>ttA	p.F1439L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1439					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGCATCTTGAATTTGGGAC	0.403													False	0	False	11:62297572	0	T	62297572	G	T	62297572	3	4	79	1	0	0	0	0	1	0	0	0	414	1281	45	3	13475	3	AHNAK	11	62297572	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1226952	62297572	72708944	250	6717											
SUV420H1	51111	broad.mit.edu	37	chr11	67941364	67941364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cactgtcagttgcaaacattCgcaaataaataaatacctaa	4	9	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:67941364C>A	ENST00000304363.4	-	6	913	c.560G>T	c.(559-561)cGa>cTa	p.R187L	SUV420H1_ENST00000401547.2_Missense_Mutation_p.R187L|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R187L|SUV420H1_ENST00000402185.2_Missense_Mutation_p.R164L|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R187L	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAAACATTCGCAAATAAAT	0.318													False	0	False	11:67941364	0	A	67941364	C	A	67941364	3	1	79	1	0	0	0	0	1	0	0	0	15496	884	31	3	2129	3	SUV420H1	11	67941364	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5643792	67941364	67065152	251	6718											
PRCP	5547	broad.mit.edu	37	chr11	82549486	82549486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccatacatagtagtgatcCaggagggccttggtctcaca	10	11	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:82549486C>A	ENST00000313010.3	-	8	1411	c.1217G>T	c.(1216-1218)tGg>tTg	p.W406L	PRCP_ENST00000393399.2_Missense_Mutation_p.W427L|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000535099.1_Missense_Mutation_p.W301L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	406					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGTAGTGATCCAGGAGGGCCT	0.413													False	0	False	11:82549486	0	A	82549486	C	A	82549486	3	1	79	1	0	0	0	0	1	0	0	0	12525	595	21	3	281	3	PRCP	11	82549486	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	14608122	82549486	52457030	252	6719											
NAALAD2	10003	broad.mit.edu	37	chr11	89914807	89914807	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactccttattttctgctgtGaaaaacttctcagaggctgc	8	10	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:89914807G>T	ENST00000534061.1	+	17	2108	c.1878G>T	c.(1876-1878)gtG>gtT	p.V626V	NAALAD2_ENST00000321955.4_Silent_p.V593V|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	626					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCTGCTGTGAAAAACTTCT	0.318													False	0	True	11:89914807	0	T	89914807	G	T	89914807	2	4	79	1	0	0	0	0	0	0	0	1	10195	1277	45	3		3	NAALAD2	11	89914807	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7365321	89914807	45091709	253	6720											
HTR3A	3359	broad.mit.edu	37	chr11	113856786	113856786	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgccagaaaaggtgaaatcCgacaggagtgtcttcatgaa	11	7	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:113856786C>A	ENST00000504030.2	+	6	1039	c.594C>A	c.(592-594)tcC>tcA	p.S198S	HTR3A_ENST00000506841.2_Silent_p.S198S|HTR3A_ENST00000299961.5_Silent_p.S183S|HTR3A_ENST00000375498.2_Silent_p.S204S|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000355556.2_Silent_p.S204S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	198					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	AGGTGAAATCCGACAGGAGTG	0.502													False	0	False	11:113856786	0	A	113856786	C	A	113856786	2	1	79	1	0	0	0	0	0	0	0	1	7494	639	23	3		3	HTR3A	11	113856786	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	23941979	113856786	21149730	254	6721											
MPZL2	10205	broad.mit.edu	37	chr11	118130817	118130817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcggcccatcgctttttcCggtaatgctggaagaggacc	11	11	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:118130817C>A	ENST00000278937.2	-	4	664	c.536G>T	c.(535-537)cGg>cTg	p.R179L	MPZL2_ENST00000438295.2_Missense_Mutation_p.R179L	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	179					anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCGCTTTTTCCGGTAATGCTG	0.483													False	0	False	11:118130817	0	A	118130817	C	A	118130817	3	1	79	1	0	0	0	0	1	0	0	0	9817	652	23	3	119	3	MPZL2	11	118130817	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4274031	118130817	16875699	255	6722											
RPS25	6230	broad.mit.edu	37	chr11	118888751	118888751	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcgtccttcttcttcttgtCgtccttaggcggctgtagga	11	11	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:118888751C>A	ENST00000527673.1	-	2	421	c.16G>T	c.(16-18)Gac>Tac	p.D6Y	RPS25_ENST00000528547.1_5'UTR	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	6					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TTCTTCTTGTCGTCCTTAGGC	0.542													False	0	False	11:118888751	0	A	118888751	C	A	118888751	3	1	79	1	0	0	0	0	1	0	0	0	13715	884	31	3	373	3	RPS25	11	118888751	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	757934	118888751	16117765	256	6723											
POU2F3	25833	broad.mit.edu	37	chr11	120117199	120117199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tagccgattccacggatgctCgcagcactctcagccaggtg	11	14	1	0	rs150644971		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:120117199C>A	ENST00000260264.4	+	2	110	c.76C>A	c.(76-78)Cgc>Agc	p.R26S	POU2F3_ENST00000543440.2_Missense_Mutation_p.R24S	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	24					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	p.R24C(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CACGGATGCTCGCAGCACTCT	0.488													False	0	False	11:120117199	0	A	120117199	C	A	120117199	3	1	79	1	0	0	0	0	1	0	0	0	12342	884	31	3	76	3	POU2F3	11	120117199	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1228448	120117199	14889317	257	6724											
GUCY2C	2984	broad.mit.edu	37	chr12	14774147	14774147	+	Frame_Shift_Del	DEL	C	C	-													gtacgcatcaccgatggtttCcacctgtggaaacagtttct							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:14774147delC	ENST00000261170.3	-	23	2741	c.2605delG	c.(2605-2607)gaafs	p.E869fs		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	869	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCGATGGTTTCCACCTGTGGA	0.433													False	2	True	12:14774147	0	-	14774147	C	-	14774147	7	5	79	1	0	1	0	1	0	0	0	0	6943	864	30	0	636	0	GUCY2C	12	14774147	Frame_Shift_Del	DEL	C	TCGA-HZ-A77Q-01A-11D-A36O-08		14774147	119077748	258	6725											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	79	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	10624138	25398285	108453610	259	6726											
CAPRIN2	65981	broad.mit.edu	37	chr12	30881820	30881820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctctgcatggaaggtgtcCaagactttggagtttgcttc	12	9	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:30881820C>A	ENST00000251071.5	-	8	2294	c.1544G>T	c.(1543-1545)tGg>tTg	p.W515L	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W515L|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W515L|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.W515L|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W182L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	515					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGAAGGTGTCCAAGACTTTGG	0.473													False	0	False	12:30881820	0	A	30881820	C	A	30881820	3	1	79	1	0	0	0	0	1	0	0	0	2656	595	21	3	1883	3	CAPRIN2	12	30881820	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5483535	30881820	102970075	260	6727											
ADAMTS20	80070	broad.mit.edu	37	chr12	43825211	43825211	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagattcaggtttggtacttGaattacagaagccatcactc	9	8	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:43825211G>T	ENST00000389420.3	-	22	3184	c.3185C>A	c.(3184-3186)tCa>tAa	p.S1062*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1062*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S216*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1062	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTGGTACTTGAATTACAGAA	0.433													False	0	False	12:43825211	0	T	43825211	G	T	43825211	4	4	79	1	0	0	0	0	0	1	0	0	266	1294	45	3	2618	3	ADAMTS20	12	43825211	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	12943391	43825211	90026684	261	6728											
SLC38A1	81539	broad.mit.edu	37	chr12	46623409	46623409	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acttcttctactttcacgatCagaaataaacttgctgtaaa	4	9	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:46623409C>A	ENST00000398637.5	-	4	830	c.136G>T	c.(136-138)Gat>Tat	p.D46Y	SLC38A1_ENST00000549049.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000552197.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D46Y	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	46					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CTTTCACGATCAGAAATAAAC	0.284													False	0	False	12:46623409	0	A	46623409	C	A	46623409	3	1	79	1	0	0	0	0	1	0	0	0	14681	826	29	3	1383	3	SLC38A1	12	46623409	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2798198	46623409	87228486	262	6729											
SLC16A7	9194	broad.mit.edu	37	chr12	60169011	60169011	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctccaaatatattcgacctcGaattcagtacttcttcagtt	4	11	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:60169011G>T	ENST00000261187.4	+	4	1099	c.935G>T	c.(934-936)cGa>cTa	p.R312L	SLC16A7_ENST00000552432.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000543448.1_Missense_Mutation_p.R213L|SLC16A7_ENST00000547379.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000552024.1_Missense_Mutation_p.R312L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	312						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.R312Q(1)|p.R312L(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATTCGACCTCGAATTCAGTAC	0.423													False	0	False	12:60169011	0	T	60169011	G	T	60169011	3	4	79	1	0	0	0	0	1	0	0	0	14494	1058	37	3	945	3	SLC16A7	12	60169011	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	13545602	60169011	73682884	263	6730											
CAPS2	84698	broad.mit.edu	37	chr12	75678746	75678746	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acttaacaaagttacctttcGaacatatgatttcctgtatt	4	8	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:75678746G>T	ENST00000393284.3	-	15	1472	c.871C>A	c.(871-873)Cga>Aga	p.R291R	CAPS2_ENST00000409799.1_Silent_p.R441R|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409445.3_Silent_p.R523R|CAPS2_ENST00000442339.2_Silent_p.R113R|RP11-560G2.1_ENST00000549953.1_RNA			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	523							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GTTACCTTTCGAACATATGAT	0.274													False	0	False	12:75678746	0	T	75678746	G	T	75678746	2	4	79	1	0	0	0	0	0	0	0	1	2658	1066	37	3		3	CAPS2	12	75678746	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	15509735	75678746	58173149	264	6731											
GAS2L3	283431	broad.mit.edu	37	chr12	101016096	101016096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccttgtagttgttctcatcGattttctattgagtatttat	6	6	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:101016096G>T	ENST00000537247.1	+	9	1334	c.380G>T	c.(379-381)cGa>cTa	p.R127L	GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231L|GAS2L3_ENST00000539410.1_Missense_Mutation_p.R231L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	231	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTTCTCATCGATTTTCTATT	0.318													False	0	False	12:101016096	0	T	101016096	G	T	101016096	3	4	79	1	0	0	0	0	1	0	0	0	6291	1058	37	3	718	3	GAS2L3	12	101016096	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	25337350	101016096	32835799	265	6732											
RFX4	5992	broad.mit.edu	37	chr12	107103179	107103179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtggctctccacgacctccCagaaaacttgcgaaacatca	7	14	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:107103179C>A	ENST00000392842.1	+	9	1319	c.905C>A	c.(904-906)cCa>cAa	p.P302Q	RFX4_ENST00000229387.5_Missense_Mutation_p.P208Q|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.P311Q	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	302					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CACGACCTCCCAGAAAACTTG	0.398													False	0	True	12:107103179	0	A	107103179	C	A	107103179	3	1	79	1	0	0	0	0	1	0	0	0	13344	594	21	3	1112	3	RFX4	12	107103179	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6087083	107103179	26748716	266	6733											
ACACB	32	broad.mit.edu	37	chr12	109610126	109610126	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaaaaccctaaacttcCggagctgctgtgcaagaatg	9	10	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:109610126C>A	ENST00000338432.7	+	6	1201	c.1082C>A	c.(1081-1083)cCg>cAg	p.P361Q	ACACB_ENST00000377854.5_Missense_Mutation_p.P361Q|ACACB_ENST00000377848.3_Missense_Mutation_p.P361Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	361	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCTAAACTTCCGGAGCTGCTG	0.517													False	0	False	12:109610126	0	A	109610126	C	A	109610126	3	1	79	1	0	0	0	0	1	0	0	0	107	652	23	3	1100	3	ACACB	12	109610126	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2506947	109610126	24241769	267	6734											
MAP1LC3B2	643246	broad.mit.edu	37	chr12	117014104	117014104	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtgcctcccaggagacgttCgggatgaaattgtcagtgta	13	8	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:117014104C>A	ENST00000306985.4	+	2	511	c.357C>A	c.(355-357)ttC>ttA	p.F119L	MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.F119L	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	119					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						AGGAGACGTTCGGGATGAAAT	0.423													False	0	True	12:117014104	0	A	117014104	C	A	117014104	3	1	79	1	0	0	0	0	1	0	0	0	9299	883	31	3	359	3	MAP1LC3B2	12	117014104	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7403978	117014104	16837791	268	6735											
SBNO1	55206	broad.mit.edu	37	chr12	123794299	123794299	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccattttttttggcattttGaacaactgcagtaagtgtgt	8	6	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:123794299G>T	ENST00000420886.2	-	25	3399	c.3400C>A	c.(3400-3402)Caa>Aaa	p.Q1134K	SBNO1_ENST00000267176.4_Missense_Mutation_p.Q1133K|SBNO1_ENST00000602398.1_Missense_Mutation_p.Q1134K|SBNO1_ENST00000602750.1_Missense_Mutation_p.Q1133K	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1134							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTGGCATTTTGAACAACTGCA	0.383													False	0	True	12:123794299	0	T	123794299	G	T	123794299	3	4	79	1	0	0	0	0	1	0	0	0	13942	1299	45	3	809	3	SBNO1	12	123794299	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6780195	123794299	10057596	269	6736											
STX2	2054	broad.mit.edu	37	chr12	131297517	131297517	+	Silent	SNP	G	G	T													cttaccctttaacttggctcGaattttattcgcagttttct					rs146831527		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:131297517G>T	ENST00000261653.6	-	4	431	c.265C>A	c.(265-267)Cga>Aga	p.R89R	STX2_ENST00000392373.2_Silent_p.R89R	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	89				R -> A (in Ref. 1; BAA03436).	acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		AACTTGGCTCGAATTTTATTC	0.249													False	0	False	12:131297517	0	T	131297517	G	T	131297517	2	4	79	1	0	0	0	0	0	0	0	1	15427	1066	37	3		3	STX2	12	131297517	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	7503218	131297517	2554378	270	6737	122	2									
STX2	2054	broad.mit.edu	37	chr12	131297527	131297527	+	Silent	SNP	C	C	A													aacttggctcgaattttattCgcagttttcttgatttcttt							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:131297527C>A	ENST00000261653.6	-	4	421	c.255G>T	c.(253-255)gcG>gcT	p.A85A	STX2_ENST00000392373.2_Silent_p.A85A	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	85					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GAATTTTATTCGCAGTTTTCT	0.249													False	0	False	12:131297527	0	A	131297527	C	A	131297527	2	1	79	1	0	0	0	0	0	0	0	1	15427	871	31	3		3	STX2	12	131297527	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	10	131297527	2554368	271	6738	122	2									
PARP4	143	broad.mit.edu	37	chr13	25029162	25029162	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaagcgcactcacctgtgccGaactggataatatttacttt	7	10	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:25029162G>T	ENST00000381989.3	-	22	2856	c.2751C>A	c.(2749-2751)ttC>ttA	p.F917L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	917	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CACCTGTGCCGAACTGGATAA	0.532													False	0	False	13:25029162	0	T	25029162	G	T	25029162	3	4	79	1	0	0	0	0	1	0	0	0	11531	1049	37	3	2475	3	PARP4	13	25029162	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		25029162	90140716	272	6739											
KL	9365	broad.mit.edu	37	chr13	33628294	33628294	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctttcctggattgaccttGaatttaaccatcctcaaata	5	10	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:33628294G>T	ENST00000380099.3	+	2	1218	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Nonsense_Mutation_p.E97*	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	404	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GATTGACCTTGAATTTAACCA	0.418													False	0	False	13:33628294	0	T	33628294	G	T	33628294	4	4	79	1	0	0	0	0	0	1	0	0	8381	1291	45	3	1216	3	KL	13	33628294	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8599132	33628294	81541584	273	6740											
MLNR	2862	broad.mit.edu	37	chr13	49796387	49796387	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcggcctttaaactgctgctCgcaaggaagtccaggccgag	13	12	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:49796387C>A	ENST00000218721.1	+	2	1113	c.1113C>A	c.(1111-1113)ctC>ctA	p.L371L	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	371					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AACTGCTGCTCGCAAGGAAGT	0.547													False	0	False	13:49796387	0	A	49796387	C	A	49796387	2	1	79	1	0	0	0	0	0	0	0	1	9699	871	31	3		3	MLNR	13	49796387	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	16168093	49796387	65373491	274	6741											
UTP14C	9724	broad.mit.edu	37	chr13	52603100	52603100	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcaatcatttcccttgatGgaaagaataggcggaaattg	10	6	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:52603100G>T	ENST00000521776.2	+	2	893	c.160G>T	c.(160-162)Gga>Tga	p.G54*	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	54					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TTCCCTTGATGGAAAGAATAG	0.458													False	0	False	13:52603100	0	T	52603100	G	T	52603100	4	4	79	1	0	0	0	0	0	1	0	0	17180	1349	47	3	162	3	UTP14C	13	52603100	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2806713	52603100	62566778	275	6742											
SUGT1	10910	broad.mit.edu	37	chr13	53231718	53231718	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgatgcacagtattattgtCaaagagcttattgtcacatt	7	6	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:53231718C>A	ENST00000310528.8	+	3	203	c.148C>A	c.(148-150)Caa>Aaa	p.Q50K	SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.Q50K|SUGT1_ENST00000483074.1_3'UTR			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)						mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GTATTATTGTCAAAGAGCTTA	0.353													False	0	True	13:53231718	0	A	53231718	C	A	53231718	3	1	79	1	0	0	0	0	1	0	0	0	15451	827	29	3	158	3	SUGT1	13	53231718	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	628618	53231718	61938160	276	6743											
DACH1	1602	broad.mit.edu	37	chr13	72204773	72204773	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgctcatggcttctaatttGatttttttcaccttcattgc	5	9	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:72204773G>T	ENST00000305425.4	-	3	1469	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	DACH1_ENST00000359684.2_Silent_p.I349I|DACH1_ENST00000313174.7_Silent_p.I349I|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	347	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTTCTAATTTGATTTTTTTCA	0.408													False	0	True	13:72204773	0	T	72204773	G	T	72204773	2	4	79	1	0	0	0	0	0	0	0	1	4245	1280	45	3		3	DACH1	13	72204773	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	18973055	72204773	42965105	277	6744											
ABCC4	10257	broad.mit.edu	37	chr13	95847155	95847155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accatctgacggcagctgacGgttgcgctgtgatatctcat	11	11	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:95847155G>T	ENST00000376887.4	-	9	1312	c.1198C>A	c.(1198-1200)Cgt>Agt	p.R400S	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.R325S|ABCC4_ENST00000431522.1_Missense_Mutation_p.R400S|ABCC4_ENST00000412704.1_Missense_Mutation_p.R400S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	400					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GGCAGCTGACGGTTGCGCTGT	0.378													False	0	False	13:95847155	0	T	95847155	G	T	95847155	3	4	79	1	0	0	0	0	1	0	0	0	55	1116	39	3	2920	3	ABCC4	13	95847155	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	23642382	95847155	19322723	278	6745											
TPP2	7174	broad.mit.edu	37	chr13	103328763	103328763	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaactggaaaaattgtattCaagtaagtgatatttaaaat	6	2	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:103328763C>A	ENST00000376052.3	+	29	3713	c.3697C>A	c.(3697-3699)Caa>Aaa	p.Q1233K	TPP2_ENST00000376065.4_Missense_Mutation_p.Q1220K|TPP2_ENST00000466153.1_3'UTR			P29144	TPP2_HUMAN	tripeptidyl peptidase II	1220					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAATTGTATTCAAGTAAGTGA	0.308													False	0	True	13:103328763	0	A	103328763	C	A	103328763	3	1	79	1	0	0	0	0	1	0	0	0	16495	827	29	3	3768	3	TPP2	13	103328763	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7481608	103328763	11841115	279	6746											
KDELC1	79070	broad.mit.edu	37	chr13	103443642	103443642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagaacagaatcagtcaaatCgtacgtaggcatcacgatat	8	9	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:103443642C>A	ENST00000376004.4	-	5	1147	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	271						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCAGTCAAATCGTACGTAGGC	0.453													False	0	True	13:103443642	0	A	103443642	C	A	103443642	3	1	79	1	0	0	0	0	1	0	0	0	8167	884	31	3	721	3	KDELC1	13	103443642	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	114879	103443642	11726236	280	6747											
COL4A2	1284	broad.mit.edu	37	chr13	110960263	110960263	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgccagcatggggagagacCagcgcgcggtggccggccct	17	15	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:110960263C>A	ENST00000360467.5	+	2	319	c.13C>A	c.(13-15)Cag>Aag	p.Q5K		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	5					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGGAGAGACCAGCGCGCGGT	0.662													False	0	False	13:110960263	0	A	110960263	C	A	110960263	3	1	79	1	0	0	0	0	1	0	0	0	3713	595	21	3	15	3	COL4A2	13	110960263	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7516621	110960263	4209615	281	6748											
UPF3A	65110	broad.mit.edu	37	chr13	115057115	115057115	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccatgtctttagagaattCgagaagagaagcgagaagaa	11	5	1	5			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:115057115C>A	ENST00000375299.3	+	7	750	c.694C>A	c.(694-696)Cga>Aga	p.R232R	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Silent_p.R199R	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	232					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.R232*(1)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		TTAGAGAATTCgagaagagaa	0.448													False	0	True	13:115057115	0	A	115057115	C	A	115057115	2	1	79	1	0	0	0	0	0	0	0	1	17089	876	31	3		3	UPF3A	13	115057115	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4096852	115057115	112763	282	6749											
OR4K5	79317	broad.mit.edu	37	chr14	20389709	20389709	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaggagaatttctgaaatgtCactagtagtgagaacttcct	9	6	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:20389709C>A	ENST00000315915.4	+	1	969	c.944C>A	c.(943-945)tCa>tAa	p.S315*		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGAAATGTCACTAGTAGTG	0.353													False	0	False	14:20389709	0	A	20389709	C	A	20389709	4	1	79	1	0	0	0	0	0	1	0	0	11141	838	29	3	946	3	OR4K5	14	20389709	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		20389709	86959831	283	6750											
FANCM	57697	broad.mit.edu	37	chr14	45605717	45605717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccaggtgatgggtatcccGcaatcccacatggccgaaat	10	12	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:45605717G>A	ENST00000267430.5	+	1	568	c.483G>A	c.(481-483)ccG>ccA	p.P161P	FANCM_ENST00000556036.1_Silent_p.P161P|FANCM_ENST00000542564.2_Silent_p.P161P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	161	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGGGTATCCCGCAATCCCACA	0.502								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	True	14:45605717	0	A	45605717	G	A	45605717	2	1	79	1	0	0	0	0	0	0	0	1	5711	1074	38	1		1	FANCM	14	45605717	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	25216008	45605717	61743823	284	6751											
KLHDC2	23588	broad.mit.edu	37	chr14	50241390	50241390	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccattcaagaggcaatacCaataaggttagtgtttctaa	7	8	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:50241390C>A	ENST00000298307.5	+	3	1206	c.345C>A	c.(343-345)acC>acA	p.T115T	KLHDC2_ENST00000554589.1_Silent_p.T115T|KLHDC2_ENST00000557247.1_Silent_p.T115T|KLHDC2_ENST00000553538.1_3'UTR	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	115						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GAGGCAATACCAATAAGGTTA	0.403													False	0	False	14:50241390	0	A	50241390	C	A	50241390	2	1	79	1	0	0	0	0	0	0	0	1	8406	581	21	3		3	KLHDC2	14	50241390	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4635673	50241390	57108150	285	6752											
C14orf37	145407	broad.mit.edu	37	chr14	58605921	58605921	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctattttctaggtcatcGgtgttcatcttatcggactg	10	8	4	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:58605921G>T	ENST00000267485.7	-	2	350	c.156C>A	c.(154-156)acC>acA	p.T52T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	52						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTAGGTCATCGGTGTTCATCT	0.478													False	0	False	14:58605921	0	T	58605921	G	T	58605921	2	4	79	1	0	0	0	0	0	0	0	1	1780	1103	39	3		3	C14orf37	14	58605921	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	8364531	58605921	48743619	286	6753											
ARID4A	5926	broad.mit.edu	37	chr14	58814545	58814545	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtgaacctgaggaaaatatCgattcaaacagtgaaagtga	10	5	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:58814545C>A	ENST00000355431.3	+	15	1726	c.1353C>A	c.(1351-1353)atC>atA	p.I451I	ARID4A_ENST00000348476.3_Silent_p.I451I|ARID4A_ENST00000395168.3_Silent_p.I451I|ARID4A_ENST00000431317.2_Silent_p.I451I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	451					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGAAAATATCGATTCAAACA	0.313													False	0	False	14:58814545	0	A	58814545	C	A	58814545	2	1	79	1	0	0	0	0	0	0	0	1	921	874	31	3		3	ARID4A	14	58814545	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	208624	58814545	48534995	287	6754											
SYT16	83851	broad.mit.edu	37	chr14	62551020	62551020	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agagctgttggtggggctctCgtacaatgccacaacggggc	15	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:62551020C>A	ENST00000430451.2	+	5	1738	c.1541C>A	c.(1540-1542)tCg>tAg	p.S514*		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	514	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTGGGGCTCTCGTACAATGCC	0.547													False	0	False	14:62551020	0	A	62551020	C	A	62551020	4	1	79	1	0	0	0	0	0	1	0	0	15554	893	31	3	1559	3	SYT16	14	62551020	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3736475	62551020	44798520	288	6755											
DCAF5	8816	broad.mit.edu	37	chr14	69522283	69522283	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaatcgtcctcaatccgacCgtcgaggtctccagtacatc	9	14	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:69522283C>A	ENST00000341516.5	-	9	1267	c.1120G>T	c.(1120-1122)Ggt>Tgt	p.G374C	DCAF5_ENST00000554215.1_Missense_Mutation_p.G292C|DCAF5_ENST00000557386.1_Missense_Mutation_p.G373C|DCAF5_ENST00000556847.1_Missense_Mutation_p.G292C|DCAF5_ENST00000553293.1_5'UTR	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	374						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCAATCCGACCGTCGAGGTCT	0.493													False	0	False	14:69522283	0	A	69522283	C	A	69522283	3	1	79	1	0	0	0	0	1	0	0	0	4298	652	23	3	1712	3	DCAF5	14	69522283	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6971263	69522283	37827257	289	6756											
RBM25	58517	broad.mit.edu	37	chr14	73578904	73578904	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccatggattaataagaaaatCatagaatatataggtgaaga	8	3	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:73578904C>A	ENST00000261973.7	+	17	2622	c.2337C>A	c.(2335-2337)atC>atA	p.I779I	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Silent_p.I779I	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	779	PWI.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ATAAGAAAATCATAGAATATA	0.303													False	0	False	14:73578904	0	A	73578904	C	A	73578904	2	1	79	1	0	0	0	0	0	0	0	1	13204	816	29	3		3	RBM25	14	73578904	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4056621	73578904	33770636	290	6757											
ACOT4	122970	broad.mit.edu	37	chr14	74060538	74060538	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttataactttgaagatctccCcaataacatggacaacatat	4	9	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:74060538C>A	ENST00000326303.4	+	2	844	c.590C>A	c.(589-591)cCc>cAc	p.P197H		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	197					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GAAGATCTCCCCAATAACATG	0.468													False	0	True	14:74060538	0	A	74060538	C	A	74060538	3	1	79	1	0	0	0	0	1	0	0	0	153	623	22	3	596	3	ACOT4	14	74060538	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	481634	74060538	33289002	291	6758											
POMT2	29954	broad.mit.edu	37	chr14	77751907	77751907	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attcgacttctcagcactttGatccggtttccaaatttcct	5	12	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:77751907G>T	ENST00000261534.4	-	13	1603	c.1401C>A	c.(1399-1401)atC>atA	p.I467I		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	467	MIR 3.				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TCAGCACTTTGATCCGGTTTC	0.453													False	0	True	14:77751907	0	T	77751907	G	T	77751907	2	4	79	1	0	0	0	0	0	0	0	1	12315	1280	45	3		3	POMT2	14	77751907	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3691369	77751907	29597633	292	6759											
NRXN3	9369	broad.mit.edu	37	chr14	79434626	79434626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagtggacttgaatggaCgcctgccagacctcatcaat	9	12	3	2	rs140301017		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:79434626C>T	ENST00000554719.1	+	11	2451	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	260					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTGAATGGACGCCTGCCAGA	0.522													False	0	False	14:79434626	0	T	79434626	C	T	79434626	3	4	79	1	0	0	0	0	1	0	0	0	10735	536	19	1	1994	1	NRXN3	14	79434626	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1682719	79434626	27914914	293	6760											
HHIPL1	84439	broad.mit.edu	37	chr14	100123403	100123403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcttttcggggatgaCgggtacctctacatcttcac	10	12	3	1	rs140994822		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:100123403C>T	ENST00000330710.5	+	3	1067	c.969C>T	c.(967-969)gaC>gaT	p.D323D	HHIPL1_ENST00000357223.2_Silent_p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	323					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCGGGGATGACGGGTACCTCT	0.512													False	0	True	14:100123403	0	T	100123403	C	T	100123403	2	4	79	1	0	0	0	0	0	0	0	1	7140	535	19	1		1	HHIPL1	14	100123403	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	20688777	100123403	7226137	294	6761											
OCA2	4948	broad.mit.edu	37	chr15	28263683	28263683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcagcgtggagtccaCgtggctgctaaggttcacgg	15	11	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28263683C>T	ENST00000354638.3	-	7	822	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	OCA2_ENST00000382996.2_Missense_Mutation_p.V223M|OCA2_ENST00000353809.5_Missense_Mutation_p.V223M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	223					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTGGAGTCCACGTGGCTGCTA	0.652									Oculocutaneous Albinism				False	0	False	15:28263683	0	T	28263683	C	T	28263683	3	4	79	1	0	0	0	0	1	0	0	0	10883	536	19	1	1921	1	OCA2	15	28263683	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		28263683	74267709	295	6762											
HERC2	8924	broad.mit.edu	37	chr15	28478313	28478313	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctctttttccttcgttctcGaattatcttttgagctatcc	4	11	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28478313G>T	ENST00000261609.7	-	30	4762	c.4654C>A	c.(4654-4656)Cga>Aga	p.R1552R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1552					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCGTTCTCGAATTATCTTT	0.383													False	0	False	15:28478313	0	T	28478313	G	T	28478313	2	4	79	1	0	0	0	0	0	0	0	1	7105	1066	37	3		3	HERC2	15	28478313	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	214630	28478313	74053079	296	6763											
MGA	23269	broad.mit.edu	37	chr15	42019576	42019576	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactggaattaaatctccacGgtcatatactcccaaaccca	4	14	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:42019576G>T	ENST00000219905.7	+	10	3810	c.3629G>T	c.(3628-3630)cGg>cTg	p.R1210L	MGA_ENST00000389936.4_Missense_Mutation_p.R1210L|MGA_ENST00000570161.1_Missense_Mutation_p.R1210L|MGA_ENST00000566586.1_Missense_Mutation_p.R1210L|MGA_ENST00000545763.1_Missense_Mutation_p.R1210L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1210						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAATCTCCACGGTCATATACT	0.398													False	0	False	15:42019576	0	T	42019576	G	T	42019576	3	4	79	1	0	0	0	0	1	0	0	0	9607	1116	39	3	3663	3	MGA	15	42019576	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	13541263	42019576	60511816	297	6764											
CEP152	22995	broad.mit.edu	37	chr15	49034207	49034207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aataatatttgcgcatctttCgggcggtttcttgacgttct	9	8	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:49034207C>A	ENST00000380950.2	-	25	4113	c.3926G>T	c.(3925-3927)cGa>cTa	p.R1309L	CEP152_ENST00000399334.3_Missense_Mutation_p.R1253L|CEP152_ENST00000325747.5_Missense_Mutation_p.R1216L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1253					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCGCATCTTTCGGGCGGTTTC	0.433													False	0	True	15:49034207	0	A	49034207	C	A	49034207	3	1	79	1	0	0	0	0	1	0	0	0	3271	884	31	3	1218	3	CEP152	15	49034207	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7014631	49034207	53497185	298	6765											
SLC27A2	11001	broad.mit.edu	37	chr15	50497538	50497538	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatatcggtgaactgcttcGgtatttatgcaactcaccac	8	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:50497538G>T	ENST00000267842.5	+	4	1182	c.950G>T	c.(949-951)cGg>cTg	p.R317L	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R264L|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R82L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	317					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GAACTGCTTCGGTATTTATGC	0.433													False	0	False	15:50497538	0	T	50497538	G	T	50497538	3	4	79	1	0	0	0	0	1	0	0	0	14606	1116	39	3	964	3	SLC27A2	15	50497538	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1463331	50497538	52033854	299	6766											
DMXL2	23312	broad.mit.edu	37	chr15	51763499	51763499	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggtctttctgcaggcaccGgtggtggggtagcatctttt	14	8	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:51763499G>T	ENST00000251076.5	-	29	7597	c.7310C>A	c.(7309-7311)cCg>cAg	p.P2437Q	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.P2438Q|DMXL2_ENST00000449909.3_Missense_Mutation_p.P1801Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2437						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGCAGGCACCGGTGGTGGGGT	0.443													False	0	False	15:51763499	0	T	51763499	G	T	51763499	3	4	79	1	0	0	0	0	1	0	0	0	4625	1116	39	3	1860	3	DMXL2	15	51763499	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1265961	51763499	50767893	300	6767											
DMXL2	23312	broad.mit.edu	37	chr15	51780219	51780219	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcaaagcgttgttttcCaagtaaggaaaaagcatttt	8	5	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:51780219C>A	ENST00000251076.5	-	22	5436	c.5149G>T	c.(5149-5151)Gga>Tga	p.G1717*	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.G1717*|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.G1081*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1717						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CGTTGTTTTCCAAGTAAGGAA	0.348													False	0	False	15:51780219	0	A	51780219	C	A	51780219	4	1	79	1	0	0	0	0	0	1	0	0	4625	603	21	3	4052	3	DMXL2	15	51780219	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	16720	51780219	50751173	301	6768											
LEO1	123169	broad.mit.edu	37	chr15	52254651	52254651	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcgcattcttgcgtttcattCgtaaaacttcatcttcacta	4	11	5	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:52254651C>A	ENST00000299601.5	-	3	914	c.854G>T	c.(853-855)cGa>cTa	p.R285L	LEO1_ENST00000315141.5_Missense_Mutation_p.R285L	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	285	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GCGTTTCATTCGTAAAACTTC	0.353													False	0	False	15:52254651	0	A	52254651	C	A	52254651	3	1	79	1	0	0	0	0	1	0	0	0	8777	884	31	3	1186	3	LEO1	15	52254651	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	474432	52254651	50276741	302	6769											
MNS1	55329	broad.mit.edu	37	chr15	56735874	56735874	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttttctcctcattttcttGaacttttgccatccgatctt	3	13	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:56735874G>T	ENST00000260453.3	-	6	1029	c.865C>A	c.(865-867)Caa>Aaa	p.Q289K	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	289	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TCATTTTCTTGAACTTTTGCC	0.348													False	0	False	15:56735874	0	T	56735874	G	T	56735874	3	4	79	1	0	0	0	0	1	0	0	0	9744	1299	45	3	642	3	MNS1	15	56735874	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4481223	56735874	45795518	303	6770											
CGNL1	84952	broad.mit.edu	37	chr15	57731336	57731336	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagcgaaacagaattaataCagatgacaggaaaagatcca	9	6	0	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:57731336C>A	ENST00000281282.5	+	2	1217	c.1139C>A	c.(1138-1140)aCa>aAa	p.T380K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	380	Head.		T -> P (in dbSNP:rs1280395).			myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAATTAATACAGATGACAGG	0.443													False	0	False	15:57731336	0	A	57731336	C	A	57731336	3	1	79	1	0	0	0	0	1	0	0	0	3327	478	17	3	1141	3	CGNL1	15	57731336	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	995462	57731336	44800056	304	6771											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499329	59499329	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttattgagcgtttcacttccGagaagcccgttcatcacagt	8	11	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:59499329G>T	ENST00000307144.4	+	1	288	c.190G>T	c.(190-192)Gag>Tag	p.E64*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	64					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	TTTCACTTCCGAGAAGCCCGT	0.532													False	0	False	15:59499329	0	T	59499329	G	T	59499329	4	4	79	1	0	0	0	0	0	1	0	0	8751	1059	37	3	192	3	LDHAL6B	15	59499329	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1767993	59499329	43032063	305	6772											
MYO9A	4649	broad.mit.edu	37	chr15	72191285	72191285	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctgaagggtctgaaccctGaatttccagagatccatatc	8	11	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:72191285G>T	ENST00000356056.5	-	25	4031	c.3559C>A	c.(3559-3561)Cag>Aag	p.Q1187K	MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000566885.1_Missense_Mutation_p.Q807K|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1168K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1187K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1187	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGAACCCTGAATTTCCAGA	0.358													False	0	False	15:72191285	0	T	72191285	G	T	72191285	3	4	79	1	0	0	0	0	1	0	0	0	10151	1299	45	3	4159	3	MYO9A	15	72191285	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	12691956	72191285	30340107	306	6773											
HEXA	3073	broad.mit.edu	37	chr15	72668191	72668191	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tactggaattgaaagttgttCgggtaaaggacgtagcgctg	14	5	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:72668191C>A	ENST00000268097.5	-	1	626	c.123G>T	c.(121-123)ccG>ccT	p.P41P	RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Silent_p.P41P|HEXA_ENST00000567159.1_Silent_p.P41P|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000567213.1_5'UTR	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	41					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GAAAGTTGTTCGGGTAAAGGA	0.622													False	0	True	15:72668191	0	A	72668191	C	A	72668191	2	1	79	1	0	0	0	0	0	0	0	1	7120	871	31	3		3	HEXA	15	72668191	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	476906	72668191	29863201	307	6774											
BNC1	646	broad.mit.edu	37	chr15	83926420	83926420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacccagaaggcaggctaGcaaggctctggtcagccttc	12	13	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:83926420G>A	ENST00000345382.2	-	5	2844	c.2759C>T	c.(2758-2760)gCt>gTt	p.A920V	BNC1_ENST00000569704.1_Missense_Mutation_p.A913V|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	920					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGGCAGGCTAGCAAGGCTCTG	0.537													False	0	False	15:83926420	0	A	83926420	G	A	83926420	3	1	79	1	0	0	0	0	1	0	0	0	1479	971	34	2	229	2	BNC1	15	83926420	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	11258229	83926420	18604972	308	6775											
SEC11A	23478	broad.mit.edu	37	chr15	85224008	85224008	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtttatagaggcctcGgtcatcaaccgcattattat	7	10	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85224008G>T	ENST00000268220.7	-	4	1007	c.367C>A	c.(367-369)Cga>Aga	p.R123R	SEC11A_ENST00000455959.3_Silent_p.R97R|SEC11A_ENST00000558134.1_Silent_p.R123R|SEC11A_ENST00000560266.1_Silent_p.R123R	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	123					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			TAGAGGCCTCGGTCATCAACC	0.408													False	0	False	15:85224008	0	T	85224008	G	T	85224008	2	4	79	1	0	0	0	0	0	0	0	1	14059	1124	39	3		3	SEC11A	15	85224008	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1297588	85224008	17307384	309	6776											
PDE8A	5151	broad.mit.edu	37	chr15	85607643	85607643	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggccccatgagatttcatCaagatcaacttcaggtaata	7	9	4	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85607643C>A	ENST00000310298.4	+	3	481	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	PDE8A_ENST00000339708.5_Missense_Mutation_p.Q77K|PDE8A_ENST00000394553.1_Missense_Mutation_p.Q77K|PDE8A_ENST00000557957.1_Missense_Mutation_p.Q5K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	77					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GAGATTTCATCAAGATCAACT	0.363													False	0	False	15:85607643	0	A	85607643	C	A	85607643	3	1	79	1	0	0	0	0	1	0	0	0	11721	827	29	3	235	3	PDE8A	15	85607643	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	383635	85607643	16923749	310	6777											
AKAP13	11214	broad.mit.edu	37	chr15	86128981	86128981	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtggattttagagcaagttCaatttctgaagaagtggctg	12	4	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:86128981C>A	ENST00000394518.2	+	8	4183	c.4088C>A	c.(4087-4089)tCa>tAa	p.S1363*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1363*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1363					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAGCAAGTTCAATTTCTGAA	0.448													False	0	False	15:86128981	0	A	86128981	C	A	86128981	4	1	79	1	0	0	0	0	0	1	0	0	449	838	29	3	4114	3	AKAP13	15	86128981	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	521338	86128981	16402411	311	6778											
FANCI	55215	broad.mit.edu	37	chr15	89828362	89828362	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacagccattacaattctgtCgccaatgaaactttttgcct	5	12	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:89828362C>A	ENST00000310775.7	+	18	1820	c.1734C>A	c.(1732-1734)gtC>gtA	p.V578V	FANCI_ENST00000300027.8_Silent_p.V578V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	578					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACAATTCTGTCGCCAATGAAA	0.423								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	15:89828362	0	A	89828362	C	A	89828362	2	1	79	1	0	0	0	0	0	0	0	1	5709	871	31	3		3	FANCI	15	89828362	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3699381	89828362	12703030	312	6779											
BLM	641	broad.mit.edu	37	chr15	91306341	91306341	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actaatcagctagaggcgatCaatgctgcactgcttggtga	11	9	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:91306341C>A	ENST00000355112.3	+	8	2146	c.2028C>A	c.(2026-2028)atC>atA	p.I676I	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Silent_p.I676I	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	676	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TAGAGGCGATCAATGCTGCAC	0.363			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				False	0	False	15:91306341	0	A	91306341	C	A	91306341	2	1	79	1	0	0	0	0	0	0	0	1	1450	816	29	3		3	BLM	15	91306341	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1477979	91306341	11225051	313	6780											
SYNM	23336	broad.mit.edu	37	chr15	99669709	99669709	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attctaacctgtcagggcacCgtggatctcagacgggcaca	11	12	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:99669709C>A	ENST00000336292.6	+	5	1261	c.1141C>A	c.(1141-1143)Cgt>Agt	p.R381S	SYNM_ENST00000328642.7_Missense_Mutation_p.R381S|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.R96S|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	382	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTCAGGGCACCGTGGATCTCA	0.488													False	0	False	15:99669709	0	A	99669709	C	A	99669709	3	1	79	1	0	0	0	0	1	0	0	0	15537	652	23	3	1157	3	SYNM	15	99669709	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8363368	99669709	2861683	314	6781											
SSTR5	0	broad.mit.edu	37	chr16	1129733	1129733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccggcctctacttcttcGtggtcatcctctcctacgcc	7	19	4	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:1129733G>A	ENST00000293897.4	+	1	953	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.V289M	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	289					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CTACTTCTTCGTGGTCATCCT	0.622													False	0	False	16:1129733	0	A	1129733	G	A	1129733	3	1	79	1	0	0	0	0	1	0	0	0	15283	1145	40	1	867	1	SSTR5	16	1129733	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		1129733	89225020	315	6782											
ZNF200	0	broad.mit.edu	37	chr16	3274343	3274343	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccatctccttgtcctcCgatttcgagtaagggcaata	8	11	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:3274343C>A	ENST00000431561.3	-	5	1349	c.737G>T	c.(736-738)cGg>cTg	p.R246L	ZNF200_ENST00000396870.4_Missense_Mutation_p.R245L|ZNF200_ENST00000396868.3_Missense_Mutation_p.R245L|ZNF200_ENST00000575948.1_Missense_Mutation_p.R245L|ZNF200_ENST00000396871.4_Missense_Mutation_p.R245L|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.R246L	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CCTTGTCCTCCGATTTCGAGT	0.413													False	0	False	16:3274343	0	A	3274343	C	A	3274343	3	1	79	1	0	0	0	0	1	0	0	0	17845	652	23	3	454	3	ZNF200	16	3274343	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2144610	3274343	87080410	316	6783											
PMM2	5373	broad.mit.edu	37	chr16	8900255	8900255	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattgcgaaaattaaactccCgaagaagaggtgggtttgct	11	7	0	2	rs80338700		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:8900255C>A	ENST00000268261.4	+	4	404	c.338C>A	c.(337-339)cCg>cAg	p.P113Q	PMM2_ENST00000539622.1_Missense_Mutation_p.P30Q|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000569958.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.P86Q	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	113			P -> L (in CDG1A).		dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATTAAACTCCCGAAGAAGAGG	0.403													False	0	True	16:8900255	0	A	8900255	C	A	8900255	3	1	79	1	0	0	0	0	1	0	0	0	12206	652	23	3	352	3	PMM2	16	8900255	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5625912	8900255	81454498	317	6784											
RSL1D1	26156	broad.mit.edu	37	chr16	11933615	11933615	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgtgggatttcgtcttcGgattcatttgttgctttaac	10	7	2	0	rs144452977	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:11933615G>T	ENST00000571133.1	-	8	1155	c.1083C>A	c.(1081-1083)tcC>tcA	p.S361S	RSL1D1_ENST00000542106.1_Silent_p.S141S	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	361					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTCGTCTTCGGATTCATTTG	0.398													False	0	False	16:11933615	0	T	11933615	G	T	11933615	2	4	79	1	0	0	0	0	0	0	0	1	13779	1103	39	3		3	RSL1D1	16	11933615	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3033360	11933615	78421138	318	6785											
KIAA0430	9665	broad.mit.edu	37	chr16	15719310	15719310	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgtggctttggcactGgaagattgttcacttgcatc	12	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:15719310G>T	ENST00000396368.3	-	8	2078	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	KIAA0430_ENST00000551742.1_Silent_p.S623S|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000548025.1_Silent_p.S621S|KIAA0430_ENST00000602337.1_Silent_p.S621S|KIAA0430_ENST00000344181.3_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	623						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTTTGGCACTGGAAGATTGTT	0.368													False	0	False	16:15719310	0	T	15719310	G	T	15719310	2	4	79	1	0	0	0	0	0	0	0	1	8227	1335	47	3		3	KIAA0430	16	15719310	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3785695	15719310	74635443	319	6786											
ACSM2B	348158	broad.mit.edu	37	chr16	20548635	20548635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccttgtctcgaagtttggttCgttgaattttccctgtgaca	9	9	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:20548635C>A	ENST00000329697.6	-	14	1847	c.1679G>T	c.(1678-1680)cGa>cTa	p.R560L	ACSM2B_ENST00000565322.1_Missense_Mutation_p.R481L|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R560L|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R560L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	560					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AAGTTTGGTTCGTTGAATTTT	0.473													False	0	False	16:20548635	0	A	20548635	C	A	20548635	3	1	79	1	0	0	0	0	1	0	0	0	184	884	31	3	58	3	ACSM2B	16	20548635	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4829325	20548635	69806118	320	6787											
PHKG2	5261	broad.mit.edu	37	chr16	30762913	30762913	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttctagcttcatgttcctGgtgtttgacctgtgagtatc	9	9	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:30762913G>T	ENST00000563588.1	+	4	554	c.315G>T	c.(313-315)ctG>ctT	p.L105L	PHKG2_ENST00000328273.7_Silent_p.L105L|PHKG2_ENST00000424889.3_Silent_p.L105L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	105	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	p.L105L(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			TCATGTTCCTGGTGTTTGACC	0.537													False	0	False	16:30762913	0	T	30762913	G	T	30762913	2	4	79	1	0	0	0	0	0	0	0	1	11916	1335	47	3		3	PHKG2	16	30762913	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	10214278	30762913	59591840	321	6788											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53730088	53730088	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattttatcctcctgcttgcGggcatgctgtttaagtaaaa	8	8	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:53730088G>T	ENST00000262135.4	-	3	298	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R69S	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	69					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.R69C(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCCTGCTTGCGGGCATGCTGT	0.368													False	0	True	16:53730088	0	T	53730088	G	T	53730088	3	4	79	1	0	0	0	0	1	0	0	0	13629	1116	39	3	3842	3	RPGRIP1L	16	53730088	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	22967175	53730088	36624665	322	6789											
SF3B3	23450	broad.mit.edu	37	chr16	70564776	70564776	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtagttggagtagatgtcGgatttgaaaatccaatgttt	11	3	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:70564776G>T	ENST00000302516.5	+	4	737	c.526G>T	c.(526-528)Gga>Tga	p.G176*		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	176					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTAGATGTCGGATTTGAAAA	0.413													False	0	False	16:70564776	0	T	70564776	G	T	70564776	4	4	79	1	0	0	0	0	0	1	0	0	14233	1117	39	3	536	3	SF3B3	16	70564776	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	16834688	70564776	19789977	323	6790											
CLEC18B	497190	broad.mit.edu	37	chr16	74443519	74443519	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcagctgaagcctgcAgctccacgcagttgccaaac	11	13	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:74443519A>T	ENST00000339953.5	-	12	1380	c.1259T>A	c.(1258-1260)cTg>cAg	p.L420Q		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	420	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGAAGCCTGCAGCTCCACGCA	0.597													False	0	False	16:74443519	0	T	74443519	A	T	74443519	3	4	79	1	0	0	0	0	1	0	0	0	3526	188	7	5	116	5	CLEC18B	16	74443519	Missense_Mutation	SNP	A	TCGA-HZ-A77Q-01A-11D-A36O-08	3878743	74443519	15911234	324	6791											
SDR42E1	93517	broad.mit.edu	37	chr16	82033377	82033377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttcttaagacaccgtcgCctctgtccaggggtgtagca	12	11	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:82033377C>T	ENST00000328945.5	-	3	648	c.521G>A	c.(520-522)gGc>gAc	p.G174D	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	174					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GACACCGTCGCCTCTGTCCAG	0.557													False	0	False	16:82033377	0	T	82033377	C	T	82033377	3	4	79	1	0	0	0	0	1	0	0	0	14054	739	26	2	664	2	SDR42E1	16	82033377	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7589858	82033377	8321376	325	6792											
SPATA22	84690	broad.mit.edu	37	chr17	3370750	3370750	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggaggaaaatcataattgtCagaaggggtactgatacctg	12	5	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:3370750C>A	ENST00000573128.1	-	3	625	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	SPATA22_ENST00000268981.5_Missense_Mutation_p.D48Y|SPATA22_ENST00000575375.1_Missense_Mutation_p.D48Y|SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000397168.3_Missense_Mutation_p.D48Y|SPATA22_ENST00000541913.1_Intron|SPATA22_ENST00000572969.1_Missense_Mutation_p.D48Y			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	48										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TCATAATTGTCAGAAGGGGTA	0.328													False	0	False	17:3370750	0	A	3370750	C	A	3370750	3	1	79	1	0	0	0	0	1	0	0	0	15090	826	29	3	977	3	SPATA22	17	3370750	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		3370750	77824460	326	6793											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs121912651		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	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)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	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)			False	0	False	17:7577539	0	A	7577539	G	A	7577539	3	1	79	1	0	0	0	0	1	0	0	0	16464	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4206789	7577539	73617671	327	6794											
MYH8	4626	broad.mit.edu	37	chr17	10317271	10317271	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgctgcttttgcttgaatttCatgttcccataatgcatcac	6	11	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:10317271C>A	ENST00000403437.2	-	12	1189	c.1095G>T	c.(1093-1095)atG>atT	p.M365I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	365	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTTGAATTTCATGTTCCCAT	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				False	0	True	17:10317271	0	A	10317271	C	A	10317271	3	1	79	1	0	0	0	0	1	0	0	0	10108	826	29	3	4834	3	MYH8	17	10317271	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2739732	10317271	70877939	328	6795											
MAP2K4	6416	broad.mit.edu	37	chr17	12013744	12013744	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgaaaattattcacagagGtgggtatggattggtatttt	11	3	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:12013744G>T	ENST00000415385.3	+	7	771		c.e7+1		MAP2K4_ENST00000581941.1_Splice_Site|MAP2K4_ENST00000353533.5_Splice_Site	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATTCACAGAGGTGGGTATGGA	0.308			"D, Mis, N"		"pancreatic, breast, colorectal"								False	0	False	17:12013744	0	T	12013744	G	T	12013744	5	4	79	1	0	0	0	0	0	0	1	0	9306	1275	44	3	708	3	MAP2K4	17	12013744	Splice_Site	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1696473	12013744	69181466	329	6796											
UBB	7314	broad.mit.edu	37	chr17	16285491	16285491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccggcaagaccatcacCctggaagtggagcccagtga	12	13	1	3	rs16962973		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:16285491C>T	ENST00000302182.3	+	2	662	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000395837.1_Silent_p.T90T|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552													False	0	True	17:16285491	0	T	16285491	C	T	16285491	2	4	79	1	0	0	0	0	0	0	0	1	16925	610	22	2		2	UBB	17	16285491	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4271747	16285491	64909719	330	6797											
WSB1	26118	broad.mit.edu	37	chr17	25628876	25628876	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttttgacaagaaatgtggtCgtgaaaattggactgttgct	11	5	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:25628876C>A	ENST00000262394.2	+	2	419	c.103C>A	c.(103-105)Cgt>Agt	p.R35S	WSB1_ENST00000348811.2_Intron|WSB1_ENST00000427287.2_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000581185.1_Missense_Mutation_p.R35S|WSB1_ENST00000583193.1_Intron	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	35					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GAAATGTGGTCGTGAAAATTG	0.398													False	0	False	17:25628876	0	A	25628876	C	A	25628876	3	1	79	1	0	0	0	0	1	0	0	0	17488	884	31	3	109	3	WSB1	17	25628876	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9343385	25628876	55566334	331	6798											
NUFIP2	57532	broad.mit.edu	37	chr17	27614185	27614185	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catacttccaaatgggcttcGaaccatctactcgatttccc	5	14	1	0	rs147846044		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:27614185G>T	ENST00000225388.4	-	2	885	c.827C>A	c.(826-828)tCg>tAg	p.S276*	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	276						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AATGGGCTTCGAACCATCTAC	0.438													False	0	False	17:27614185	0	T	27614185	G	T	27614185	4	4	79	1	0	0	0	0	0	1	0	0	10817	1059	37	3	1272	3	NUFIP2	17	27614185	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1985309	27614185	53581025	332	6799											
RHOT1	55288	broad.mit.edu	37	chr17	30521075	30521075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacttggactgtgcttcgacGatttggttatgatgatgacc	11	7	0	3	rs116192944	by1000genomes	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:30521075G>T	ENST00000358365.3	+	11	1045	c.818G>T	c.(817-819)cGa>cTa	p.R273L	RHOT1_ENST00000333942.6_Missense_Mutation_p.R273L|RHOT1_ENST00000354266.3_Missense_Mutation_p.R252L|RHOT1_ENST00000545287.2_Missense_Mutation_p.R273L|RHOT1_ENST00000583994.1_Missense_Mutation_p.R146L|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000581094.1_Missense_Mutation_p.R273L|RHOT1_ENST00000394692.2_Missense_Mutation_p.R273L	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	273					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GTGCTTCGACGATTTGGTTAT	0.333													False	0	False	17:30521075	0	T	30521075	G	T	30521075	3	4	79	1	0	0	0	0	1	0	0	0	13422	1058	37	3	860	3	RHOT1	17	30521075	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2906890	30521075	50674135	333	6800											
SRCIN1	80725	broad.mit.edu	37	chr17	36708223	36708223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggctccttcagctggccCgctcagctcatgcaggttca	11	14	4	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:36708223C>T	ENST00000264659.7	-	14	2850	c.2626G>A	c.(2626-2628)Ggg>Agg	p.G876R	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.G910R	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	748	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCAGCTGGCCCGCTCAGCTCA	0.602													False	0	True	17:36708223	0	T	36708223	C	T	36708223	3	4	79	1	0	0	0	0	1	0	0	0	15218	652	23	1	949	1	SRCIN1	17	36708223	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	6187148	36708223	44486987	334	6801											
KRT24	192666	broad.mit.edu	37	chr17	38857542	38857542	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgccggagacacagctcgttCtcatacctggaaggggcagc	13	12	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:38857542C>T	ENST00000264651.2	-	3	761	c.705G>A	c.(703-705)gaG>gaA	p.E235E		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	235	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ACAGCTCGTTCTCATACCTGG	0.512													False	0	False	17:38857542	0	T	38857542	C	T	38857542	2	4	79	1	0	0	0	0	0	0	0	1	8511	912	32	2		2	KRT24	17	38857542	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2149319	38857542	42337668	335	6802											
KRT33B	3884	broad.mit.edu	37	chr17	39521158	39521158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcggatctccgccagctGggactccacgttggtgatca	12	13	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:39521158G>T	ENST00000251646.3	-	6	1019	c.970C>A	c.(970-972)Cag>Aag	p.Q324K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	324	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCGCCAGCTGGGACTCCACG	0.617													False	0	True	17:39521158	0	T	39521158	G	T	39521158	3	4	79	1	0	0	0	0	1	0	0	0	8520	1357	47	3	252	3	KRT33B	17	39521158	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	663616	39521158	41674052	336	6803											
NBR1	4077	broad.mit.edu	37	chr17	41341806	41341806	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaggattgttggtgtcCgctaccagtgtaggtaagca	13	6	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:41341806C>A	ENST00000422280.1	+	8	1141	c.682C>A	c.(682-684)Cgc>Agc	p.R228S	NBR1_ENST00000389312.4_Missense_Mutation_p.R228S|NBR1_ENST00000590996.1_Missense_Mutation_p.R228S|NBR1_ENST00000341165.6_Missense_Mutation_p.R228S|NBR1_ENST00000589872.1_Missense_Mutation_p.R228S|NBR1_ENST00000542611.1_Missense_Mutation_p.R207S	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	228					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGTTGGTGTCCGCTACCAGTG	0.438													False	0	False	17:41341806	0	A	41341806	C	A	41341806	3	1	79	1	0	0	0	0	1	0	0	0	10268	652	23	3	708	3	NBR1	17	41341806	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1820648	41341806	39853404	337	6804											
TTLL6	284076	broad.mit.edu	37	chr17	46862366	46862366	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtttactgggctccaacttCgagctgctgagattgatatt	11	8	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:46862366C>T	ENST00000393382.3	-	13	2100	c.1959G>A	c.(1957-1959)tcG>tcA	p.S653S	TTLL6_ENST00000433608.2_Silent_p.S346S	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	605						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCTCCAACTTCGAGCTGCTGA	0.542													False	0	False	17:46862366	0	T	46862366	C	T	46862366	2	4	79	1	0	0	0	0	0	0	0	1	16815	871	31	1		1	TTLL6	17	46862366	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5520560	46862366	34332844	338	6805											
RNF43	54894	broad.mit.edu	37	chr17	56439980	56439980	+	Frame_Shift_Del	DEL	T	T	-													acaaagatggtgcccaccacTgtcattaggatccacacatc							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:56439980delT	ENST00000584437.1	-	5	2567	c.612delA	c.(610-612)acafs	p.T204fs	RNF43_ENST00000581868.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.T204fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.T204fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.T163fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.T163fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Frame_Shift_Del_p.T77fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	204						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCCACCACTGTCATTAGGA	0.592													False	1	False	17:56439980	0	-	56439980	T	-	56439980	7	5	79	1	0	1	0	1	0	0	0	0	13574	1567	55	0	1759	0	RNF43	17	56439980	Frame_Shift_Del	DEL	T	TCGA-HZ-A77Q-01A-11D-A36O-08	9577614	56439980	24755230	339	6806											
PRKCA	5578	broad.mit.edu	37	chr17	64728884	64728884	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccttccaacaaccttgacCgagtgaaactcacggacttc	6	14	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:64728884C>A	ENST00000413366.3	+	9	1023	c.997C>A	c.(997-999)Cga>Aga	p.R333R		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	333					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CAACCTTGACCGAGTGAAACT	0.478													False	0	False	17:64728884	0	A	64728884	C	A	64728884	2	1	79	1	0	0	0	0	0	0	0	1	12583	644	23	3		3	PRKCA	17	64728884	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8288904	64728884	16466326	340	6807											
MRPS7	51081	broad.mit.edu	37	chr17	73259586	73259586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaagggaggccgtttctacCaggtgaatgaatggccaggg	15	8	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:73259586C>A	ENST00000579761.1	+	4	732	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	MRPS7_ENST00000579002.1_Missense_Mutation_p.Q198K|MRPS7_ENST00000245539.6_Missense_Mutation_p.Q169K			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	169					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CCGTTTCTACCAGGTGAATGA	0.507													False	0	False	17:73259586	0	A	73259586	C	A	73259586	3	1	79	1	0	0	0	0	1	0	0	0	9915	595	21	3	519	3	MRPS7	17	73259586	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8530702	73259586	7935624	341	6808											
CBX4	8535	broad.mit.edu	37	chr17	77808649	77808649	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccatgtatttgctcatcacGatcacgatgcgtccgttctt	7	12	4	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:77808649G>T	ENST00000269397.4	-	5	969	c.792C>A	c.(790-792)atC>atA	p.I264I		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	264	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGCTCATCACGATCACGATGC	0.582											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	17:77808649	0	T	77808649	G	T	77808649	2	4	79	1	0	0	0	0	0	0	0	1	2740	1048	37	3		3	CBX4	17	77808649	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4549063	77808649	3386561	342	6809											
RNF213	57674	broad.mit.edu	37	chr17	78338344	78338344	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccgagcacgtcttcttActagacaaggtgagtacttg	11	9	2	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:78338344A>G	ENST00000582970.1	+	42	12005	c.11862A>G	c.(11860-11862)ttA>ttG	p.L3954L	RNF213_ENST00000336301.6_Silent_p.L2027L|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.L4003L|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGTCTTCTTACTAGACAAGG	0.582													False	0	False	17:78338344	0	G	78338344	A	G	78338344	2	3	79	1	0	0	0	0	0	0	0	1	13556	388	14	4		4	RNF213	17	78338344	Silent	SNP	A	TCGA-HZ-A77Q-01A-11D-A36O-08	529695	78338344	2856866	343	6810											
USP14	9097	broad.mit.edu	37	chr18	204644	204644	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatggtgtcttttcgatcCaaattcaaggatctagaaga	8	6	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:204644C>A	ENST00000261601.7	+	13	1207	c.1116C>A	c.(1114-1116)tcC>tcA	p.S372S	USP14_ENST00000383589.2_Silent_p.S326S|USP14_ENST00000582707.1_Silent_p.S337S|USP14_ENST00000400266.3_Silent_p.S361S	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTTTCGATCCAAATTCAAGG	0.328													False	0	True	18:204644	0	A	204644	C	A	204644	2	1	79	1	0	0	0	0	0	0	0	1	17129	581	21	3		3	USP14	18	204644	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		204644	77872604	344	6811											
EPB41L3	23136	broad.mit.edu	37	chr18	5424355	5424355	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatggtgctttcaaattgttCaaactaaataaaaaaaaata	4	4	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:5424355C>A	ENST00000341928.2	-	10	1409	c.1069G>T	c.(1069-1071)Gaa>Taa	p.E357*	EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E357*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	357	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCAAATTGTTCAAACTAAATA	0.323													False	0	True	18:5424355	0	A	5424355	C	A	5424355	4	1	79	1	0	0	0	0	0	1	0	0	5186	835	29	3	2246	3	EPB41L3	18	5424355	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5219711	5424355	72652893	345	6812											
ANKRD12	23253	broad.mit.edu	37	chr18	9275594	9275594	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgcaagaacattggcaaatCaaacactgccatttagtgct	7	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:9275594C>A	ENST00000262126.4	+	11	6076	c.5836C>A	c.(5836-5838)Caa>Aaa	p.Q1946K	ANKRD12_ENST00000383440.2_Missense_Mutation_p.Q1923K|ANKRD12_ENST00000400020.3_Missense_Mutation_p.Q1923K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATTGGCAAATCAAACACTGCC	0.343													False	0	True	18:9275594	0	A	9275594	C	A	9275594	3	1	79	1	0	0	0	0	1	0	0	0	640	827	29	3	5874	3	ANKRD12	18	9275594	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3851239	9275594	68801654	346	6813											
GATA6	2627	broad.mit.edu	37	chr18	19780689	19780690	+	Frame_Shift_Ins	INS	-	-	ATTGGTGCTC													agcgagctcaagtattcgggINStcaagatgggctctacatag							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:19780689_19780690insATTGGTGCTC	ENST00000269216.3	+	7	1968_1969	c.1691_1692insATTGGTGCTC	c.(1690-1695)ggtcaafs	p.Q565fs	GATA6_ENST00000581694.1_Frame_Shift_Ins_p.Q565fs|RP11-627G18.1_ENST00000583442.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	565					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			AAGTATTCGGGTCAAGATGGGC	0.649													False	0	True	18:19780689	0	ATTGGTGCTC	19780690	-	ATTGGTGCTC	19780689	7	5	79	1	0	1	1	0	0	0	0	0	6301	1261	44	0	1713	0	GATA6	18	19780689	Frame_Shift_Ins	INS	-	TCGA-HZ-A77Q-01A-11D-A36O-08	10505095	19780689	58296559	347	6814											
SMAD4	4089	broad.mit.edu	37	chr18	48591908	48591916	+	In_Frame_Del	DEL	TGGAGGAGA	TGGAGGAGA	-													gatggatacgtggacccttcTggaggagatcgcttttgttt					rs121912576		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	TGGAGGAGA	TGGAGGAGA	-	-	TGGAGGAGA	TGGAGGAGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:48591908_48591916delTGGAGGAGA	ENST00000588745.1	+	5	783_791	c.783_791delTGGAGGAGA	c.(781-792)tctggaggagat>tct	p.GGD262del	SMAD4_ENST00000342988.3_In_Frame_Del_p.GGD358del|SMAD4_ENST00000398417.2_In_Frame_Del_p.GGD358del			Q13485	SMAD4_HUMAN	SMAD family member 4	358					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.G358*(4)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGACCCTTCTGGAGGAGATCGCTTTTGT	0.411													False	1	False	18:48591908	0	-	48591916	TGGAGGAGA	-	48591908	7	5	79	1	0	1	0	1	0	0	0	0	14840	1567	55	0	1101	0	SMAD4	18	48591908	In_Frame_Del	DEL	TGGAGGAGA	TCGA-HZ-A77Q-01A-11D-A36O-08	28811219	48591908	29485340	348	6815											
DCC	1630	broad.mit.edu	37	chr18	50961541	50961541	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagatggaggttattggcCagttgatactaatttgattg	13	3	0	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:50961541C>A	ENST00000442544.2	+	22	3807	c.3191C>A	c.(3190-3192)cCa>cAa	p.P1064Q	DCC_ENST00000581580.1_Missense_Mutation_p.P699Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1064					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTTATTGGCCAGTTGATACT	0.299													False	0	False	18:50961541	0	A	50961541	C	A	50961541	3	1	79	1	0	0	0	0	1	0	0	0	4307	594	21	3	3277	3	DCC	18	50961541	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2369633	50961541	27115707	349	6816											
SERPINB12	89777	broad.mit.edu	37	chr18	61233928	61233928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtcctgtccttcccccGgttcaccctggaagacagct	11	15	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:61233928G>T	ENST00000382768.1	+	7	962	c.962G>T	c.(961-963)cGg>cTg	p.R321L	SERPINB12_ENST00000269491.1_Missense_Mutation_p.R301L			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	301					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCCTTCCCCCGGTTCACCCTG	0.448													False	0	True	18:61233928	0	T	61233928	G	T	61233928	3	4	79	1	0	0	0	0	1	0	0	0	14180	1116	39	3	928	3	SERPINB12	18	61233928	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	10272387	61233928	16843320	350	6817											
RTTN	25914	broad.mit.edu	37	chr18	67742608	67742608	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catttaaatcattgctttctGaatttctatcaaaagcagaa	4	7	4	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:67742608G>T	ENST00000255674.6	-	33	4830	c.4544C>A	c.(4543-4545)tCa>tAa	p.S1515*	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Nonsense_Mutation_p.S1515*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1515							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATTGCTTTCTGAATTTCTATC	0.254													False	0	False	18:67742608	0	T	67742608	G	T	67742608	4	4	79	1	0	0	0	0	0	1	0	0	13816	1294	45	3	2204	3	RTTN	18	67742608	Nonsense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	6508680	67742608	10334640	351	6818											
ZNF407	55628	broad.mit.edu	37	chr18	72347035	72347035	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggccatgtacagttttGgtcgatttgactcctccata	10	10	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:72347035G>T	ENST00000299687.5	+	1	4060	c.4060G>T	c.(4060-4062)Ggt>Tgt	p.G1354C	ZNF407_ENST00000309902.6_Missense_Mutation_p.G1354C|ZNF407_ENST00000577538.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000582337.1_Missense_Mutation_p.G1354C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GTACAGTTTTGGTCGATTTGA	0.423													False	0	True	18:72347035	0	T	72347035	G	T	72347035	3	4	79	1	0	0	0	0	1	0	0	0	17970	1348	47	3	4062	3	ZNF407	18	72347035	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4604427	72347035	5730213	352	6819											
EMR1	2015	broad.mit.edu	37	chr19	6913826	6913826	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaatatcactccggctgttCggacggaatacttaggtagg	11	9	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:6913826C>A	ENST00000312053.4	+	11	1322	c.1285C>A	c.(1285-1287)Cgg>Agg	p.R429R	EMR1_ENST00000250572.8_Silent_p.R429R|EMR1_ENST00000381404.4_Silent_p.R377R|EMR1_ENST00000381407.5_Silent_p.R288R|EMR1_ENST00000450315.3_Silent_p.R252R	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	429	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCGGCTGTTCGGACGGAATA	0.498													False	0	True	19:6913826	0	A	6913826	C	A	6913826	2	1	79	1	0	0	0	0	0	0	0	1	5136	875	31	3		3	EMR1	19	6913826	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		6913826	52215157	353	6820											
ZNF557	79230	broad.mit.edu	37	chr19	7082034	7082034	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcctaagctgcatgtttttCgaaaagaacaatctagaaat	6	8	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7082034C>A	ENST00000414706.1	+	7	870	c.397C>A	c.(397-399)Cga>Aga	p.R133R	ZNF557_ENST00000439035.2_Silent_p.R126R|ZNF557_ENST00000252840.6_Silent_p.R133R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCATGTTTTTCGAAAAGAACA	0.348													False	0	True	19:7082034	0	A	7082034	C	A	7082034	2	1	79	1	0	0	0	0	0	0	0	1	18071	876	31	3		3	ZNF557	19	7082034	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	168208	7082034	52046949	354	6821											
ZNF358	140467	broad.mit.edu	37	chr19	7584555	7584555	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagccccgcggtgctccccGcccccgccagcccgccccgg	11	26	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7584555G>T	ENST00000597229.1	+	2	597	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	ZNF358_ENST00000394341.2_Missense_Mutation_p.A143S	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	143					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GGTGCTccccgcccccgccag	0.741													False	0	True	19:7584555	0	T	7584555	G	T	7584555	3	4	79	1	0	0	0	0	1	0	0	0	17950	1087	38	3	429	3	ZNF358	19	7584555	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	502521	7584555	51544428	355	6822											
TMEM38A	79041	broad.mit.edu	37	chr19	16799034	16799034	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgccccgtgctgtttggttCggcctgcgggggtgaccatc	15	13	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:16799034C>A	ENST00000187762.2	+	6	843	c.752C>A	c.(751-753)tCg>tAg	p.S251*		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	251						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTGTTTGGTTCGGCCTGCGGG	0.642													False	0	False	19:16799034	0	A	16799034	C	A	16799034	4	1	79	1	0	0	0	0	0	1	0	0	16241	893	31	3	774	3	TMEM38A	19	16799034	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	9214479	16799034	42329949	356	6823											
MYO9B	4650	broad.mit.edu	37	chr19	17213368	17213368	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggccctgtgctggagGtgagcggggaagctggtcgg	21	8	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:17213368G>A	ENST00000595618.1	+	2	992		c.e2+1		MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000594824.1_Splice_Site|MYO9B_ENST00000593411.1_Splice_Site	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGTGCTGGAGGTGAGCGGGGA	0.607													False	0	False	19:17213368	0	A	17213368	G	A	17213368	5	1	79	1	0	0	0	0	0	0	1	0	10152	1275	44	2	843	2	MYO9B	19	17213368	Splice_Site	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	414334	17213368	41915615	357	6824											
ELL	8178	broad.mit.edu	37	chr19	18556040	18556040	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagagacactcacctttttGatttttcgatattcctgcaa	5	10	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:18556040G>T	ENST00000262809.4	-	11	1814	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	ELL_ENST00000596124.3_Silent_p.I448I	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	581					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TCACCTTTTTGATTTTTCGAT	0.512			T	MLL	AL								False	0	True	19:18556040	0	T	18556040	G	T	18556040	2	4	79	1	0	0	0	0	0	0	0	1	5094	1280	45	3		3	ELL	19	18556040	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1342672	18556040	40572943	358	6825											
ZNF14	7561	broad.mit.edu	37	chr19	19823005	19823005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatcgtttacattcatatGgtttttctccaatatgagtt	5	8	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:19823005G>T	ENST00000344099.3	-	4	1223	c.1085C>A	c.(1084-1086)cCa>cAa	p.P362Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				ACATTCATATGGTTTTTCTCC	0.393													False	0	False	19:19823005	0	T	19823005	G	T	19823005	3	4	79	1	0	0	0	0	1	0	0	0	17811	1348	47	3	847	3	ZNF14	19	19823005	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1266965	19823005	39305978	359	6826											
ZNF431	170959	broad.mit.edu	37	chr19	21366085	21366085	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgtggcaaagcttttaacCagtcttcaacccttagtaca	6	10	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:21366085C>A	ENST00000311048.7	+	5	1123	c.979C>A	c.(979-981)Cag>Aag	p.Q327K	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTTTTAACCAGTCTTCAAC	0.403													False	0	False	19:21366085	0	A	21366085	C	A	21366085	3	1	79	1	0	0	0	0	1	0	0	0	17988	595	21	3	997	3	ZNF431	19	21366085	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1543080	21366085	37762898	360	6827											
ZNF254	9534	broad.mit.edu	37	chr19	24309885	24309885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcaaagcttttagccaGtcctcaacccttactacaca	6	13	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:24309885G>A	ENST00000357002.4	+	4	1198	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_ENST00000342944.6_Silent_p.Q276Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	361					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAGTCCTCAACCC	0.393													False	0	False	19:24309885	0	A	24309885	G	A	24309885	2	1	79	1	0	0	0	0	0	0	0	1	17881	1020	36	2		2	ZNF254	19	24309885	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2943800	24309885	34819098	361	6828											
TSHZ3	57616	broad.mit.edu	37	chr19	31769737	31769737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctccagggaagctttcttcCgagtggcagggatgattttg	14	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:31769737C>A	ENST00000240587.4	-	2	1289	c.962G>T	c.(961-963)cGg>cTg	p.R321L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	321					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGCTTTCTTCCGAGTGGCAGG	0.527													False	0	False	19:31769737	0	A	31769737	C	A	31769737	3	1	79	1	0	0	0	0	1	0	0	0	16708	652	23	3	2287	3	TSHZ3	19	31769737	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	7459852	31769737	27359246	362	6829											
ZNF181	339318	broad.mit.edu	37	chr19	35231549	35231549	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgggaaaacaaggaattatCaacaaagaaggataattatg	9	3	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:35231549C>A	ENST00000392232.3	+	6	563	c.395C>A	c.(394-396)tCa>tAa	p.S132*	ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S87*|ZNF181_ENST00000492450.1_Nonsense_Mutation_p.S88*			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGGAATTATCAACAAAGAAG	0.264													False	0	False	19:35231549	0	A	35231549	C	A	35231549	4	1	79	1	0	0	0	0	0	1	0	0	17832	838	29	3	277	3	ZNF181	19	35231549	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3461812	35231549	23897434	363	6830											
SUPT5H	6829	broad.mit.edu	37	chr19	39963541	39963541	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacgaactcatcggccagacCgtgcgcatctcccaggggcc	11	16	2	1	rs146582409		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:39963541C>A	ENST00000599117.1	+	23	2494	c.2127C>A	c.(2125-2127)acC>acA	p.T709T	SUPT5H_ENST00000598725.1_Silent_p.T709T|SUPT5H_ENST00000402194.2_Silent_p.T705T|SUPT5H_ENST00000432763.2_Silent_p.T709T|SUPT5H_ENST00000359191.6_Silent_p.T705T			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	709	KOW 5.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCGGCCAGACCGTGCGCATCT	0.677													False	0	False	19:39963541	0	A	39963541	C	A	39963541	2	1	79	1	0	0	0	0	0	0	0	1	15481	639	23	3		3	SUPT5H	19	39963541	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4731992	39963541	19165442	364	6831											
PSG3	5671	broad.mit.edu	37	chr19	43237144	43237144	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtctcaggatcacaggtTaagctcacagcctccatgtc	10	12	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:43237144T>G	ENST00000327495.5	-	3	685	c.501A>C	c.(499-501)ttA>ttC	p.L167F	PSG3_ENST00000595140.1_Missense_Mutation_p.L167F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	167	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GATCACAGGTTAAGCTCACAG	0.522													False	0	False	19:43237144	0	G	43237144	T	G	43237144	3	3	79	1	0	0	0	0	1	0	0	0	12732	1751	61	4	801	4	PSG3	19	43237144	Missense_Mutation	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08	3273603	43237144	15891839	365	6832											
ZNF221	7638	broad.mit.edu	37	chr19	44469186	44469186	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccagaggaagctgtacCgagatgtgatgctagagaac	13	9	0	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:44469186C>A	ENST00000251269.5	+	4	494	c.166C>A	c.(166-168)Cga>Aga	p.R56R	ZNF221_ENST00000587682.1_Silent_p.R56R|ZNF221_ENST00000592350.1_Silent_p.R56R	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GAAGCTGTACCGAGATGTGAT	0.522													False	0	False	19:44469186	0	A	44469186	C	A	44469186	2	1	79	1	0	0	0	0	0	0	0	1	17858	644	23	3		3	ZNF221	19	44469186	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1232042	44469186	14659797	366	6833											
RTN2	6253	broad.mit.edu	37	chr19	45997638	45997638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggggagtcaagacctcGggcgatgagggctgagcaag	18	8	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:45997638G>A	ENST00000245923.4	-	4	835	c.600C>T	c.(598-600)ccC>ccT	p.P200P	RTN2_ENST00000344680.4_Silent_p.P200P|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000590526.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	200						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCAAGACCTCGGGCGATGAGG	0.617													False	0	True	19:45997638	0	A	45997638	G	A	45997638	2	1	79	1	0	0	0	0	0	0	0	1	13805	1103	39	1		1	RTN2	19	45997638	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1528452	45997638	13131345	367	6834											
IRF3	3661	broad.mit.edu	37	chr19	50165298	50165299	+	Frame_Shift_Ins	INS	-	-	AACAGCGGGCATG													ctgttggggagcagctcctcINSgctcactgcccagtatgtgt							TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:50165298_50165299insAACAGCGGGCATG	ENST00000597198.1	-	6	1269_1270	c.888_889insCATGCCCGCTGTT	c.(886-891)agcgagfs	p.E297fs	IRF3_ENST00000377135.4_Intron|IRF3_ENST00000600911.1_Frame_Shift_Ins_p.E297fs|IRF3_ENST00000593922.1_Frame_Shift_Ins_p.E151fs|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000377139.3_Frame_Shift_Ins_p.E297fs|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000309877.7_Frame_Shift_Ins_p.E297fs|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000598808.1_Frame_Shift_Ins_p.E151fs|IRF3_ENST00000599144.1_Frame_Shift_Ins_p.E151fs|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000601291.1_Frame_Shift_Ins_p.E297fs			Q14653	IRF3_HUMAN	interferon regulatory factor 3	297	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AGCAGCTCCTCGCTCACTGCCC	0.663													False	0	False	19:50165298	0	AACAGCGGGCATG	50165299	-	AACAGCGGGCATG	50165298	7	5	79	1	0	1	1	0	0	0	0	0	7881	893	31	0	406	0	IRF3	19	50165298	Frame_Shift_Ins	INS	-	TCGA-HZ-A77Q-01A-11D-A36O-08	4167660	50165298	8963685	368	6835											
KLK13	26085	broad.mit.edu	37	chr19	51559890	51559890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctgctgggtttcatattttCggattgtttcacggatccac	10	9	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:51559890C>A	ENST00000595793.1	-	5	830	c.788G>T	c.(787-789)cGa>cTa	p.R263L	KLK13_ENST00000595547.1_Missense_Mutation_p.R190L|KLK13_ENST00000335422.3_Missense_Mutation_p.R111L	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	263	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity	p.R263L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTCATATTTTCGGATTGTTTC	0.512													False	0	True	19:51559890	0	A	51559890	C	A	51559890	3	1	79	1	0	0	0	0	1	0	0	0	8451	884	31	3	49	3	KLK13	19	51559890	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	1394592	51559890	7569093	369	6836											
ZNF613	79898	broad.mit.edu	37	chr19	52447796	52447796	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaagaagtctcgcctcatCtatcatcagagagttcacac	6	13	7	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:52447796C>A	ENST00000293471.6	+	6	1339	c.660C>A	c.(658-660)atC>atA	p.I220I	ZNF613_ENST00000391794.4_Silent_p.I184I	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTCGCCTCATCTATCATCAGA	0.458													False	0	False	19:52447796	0	A	52447796	C	A	52447796	2	1	79	1	0	0	0	0	0	0	0	1	18121	903	32	3		3	ZNF613	19	52447796	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	887906	52447796	6681187	370	6837											
ZNF610	162963	broad.mit.edu	37	chr19	52857575	52857575	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcccttgattctgcaaagtCaagttaaaatagtaaaaaat	6	6	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:52857575C>A	ENST00000403906.3	+	5	718	c.262C>A	c.(262-264)Caa>Aaa	p.Q88K	ZNF610_ENST00000601151.1_Intron|ZNF610_ENST00000321287.8_Missense_Mutation_p.Q88K|ZNF610_ENST00000327920.8_Missense_Mutation_p.Q88K	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	88	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TCTGCAAAGTCAAGTTAAAAT	0.378													False	0	False	19:52857575	0	A	52857575	C	A	52857575	3	1	79	1	0	0	0	0	1	0	0	0	18119	827	29	3	272	3	ZNF610	19	52857575	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	409779	52857575	6271408	371	6838											
ZNF547	284306	broad.mit.edu	37	chr19	57883234	57883234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggctcagagattgctgtacCgtgatgtgatgctggagaat	14	6	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:57883234C>A	ENST00000282282.3	+	3	259	c.109C>A	c.(109-111)Cgt>Agt	p.R37S	AC003002.4_ENST00000597658.1_Missense_Mutation_p.R37S	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGCTGTACCGTGATGTGAT	0.512													False	0	True	19:57883234	0	A	57883234	C	A	57883234	3	1	79	1	0	0	0	0	1	0	0	0	18062	652	23	3	115	3	ZNF547	19	57883234	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5025659	57883234	1245749	372	6839											
PTPRA	0	broad.mit.edu	37	chr20	3016525	3016525	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggaaagggcatgatcagcatCatcgccgccgtgcagaagca	13	11	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:3016525C>G	ENST00000216877.6	+	21	2509	c.2109C>G	c.(2107-2109)atC>atG	p.I703M	PTPRA_ENST00000380393.3_Missense_Mutation_p.I712M|PTPRA_ENST00000425918.2_Missense_Mutation_p.I723M|PTPRA_ENST00000399903.2_Missense_Mutation_p.I712M|PTPRA_ENST00000318266.5_Missense_Mutation_p.I703M|PTPRA_ENST00000358719.4_Missense_Mutation_p.I568M|PTPRA_ENST00000356147.3_Missense_Mutation_p.I703M	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	712	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGATCAGCATCATCGCCGCCG	0.587													False	0	False	20:3016525	0	G	3016525	C	G	3016525	3	3	79	1	0	0	0	0	1	0	0	0	12874	816	29	5	2210	5	PTPRA	20	3016525	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		3016525	60008995	373	6840											
XRN2	22803	broad.mit.edu	37	chr20	21327079	21327079	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagctggctggaagcagcGgtactacaagaacaaatttg	13	7	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:21327079G>T	ENST00000377191.3	+	17	1651	c.1556G>T	c.(1555-1557)cGg>cTg	p.R519L	XRN2_ENST00000430571.2_Missense_Mutation_p.R443L|XRN2_ENST00000539513.1_Missense_Mutation_p.R465L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	519					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGAAGCAGCGGTACTACAAG	0.438													False	0	False	20:21327079	0	T	21327079	G	T	21327079	3	4	79	1	0	0	0	0	1	0	0	0	17544	1116	39	3	1622	3	XRN2	20	21327079	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	18310554	21327079	41698441	374	6841											
DEFB119	245932	broad.mit.edu	37	chr20	29976964	29976964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagcaccgtttacgatttCggcagcgtatgatgctgtct	10	11	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:29976964C>T	ENST00000376315.2	-	2	130	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376321.3_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	50					defense response to bacterium	extracellular region		p.R44Q(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTTACGATTTCGGCAGCGTAT	0.453													False	0	True	20:29976964	0	T	29976964	C	T	29976964	3	4	79	1	0	0	0	0	1	0	0	0	4436	884	31	1	381	1	DEFB119	20	29976964	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8649885	29976964	33048556	375	6842											
NCOA6	23054	broad.mit.edu	37	chr20	33329665	33329665	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaagtttgttaggatcCgaaggctgcccatccttttt	11	9	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:33329665C>A	ENST00000374796.2	-	12	6965	c.4395G>T	c.(4393-4395)tcG>tcT	p.S1465S	NCOA6_ENST00000359003.2_Silent_p.S1465S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1465					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTTAGGATCCGAAGGCTGCC	0.443													False	0	False	20:33329665	0	A	33329665	C	A	33329665	2	1	79	1	0	0	0	0	0	0	0	1	10301	639	23	3		3	NCOA6	20	33329665	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3352701	33329665	29695855	376	6843											
SAMHD1	25939	broad.mit.edu	37	chr20	35533826	35533826	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatacttgaatagattacGgtattcaatttgttttaaaa	5	5	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:35533826G>T	ENST00000262878.4	-	12	1550	c.1351C>A	c.(1351-1353)Cgt>Agt	p.R451S		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	451					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATAGATTACGGTATTCAATT	0.348													False	0	False	20:35533826	0	T	35533826	G	T	35533826	3	4	79	1	0	0	0	0	1	0	0	0	13907	1116	39	3	549	3	SAMHD1	20	35533826	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2204161	35533826	27491694	377	6844											
ZNFX1	57169	broad.mit.edu	37	chr20	47887028	47887028	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcgtttggaattctgccagcGaacaaacttcagtggttttg	10	8	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:47887028G>T	ENST00000396105.1	-	3	1567	c.1321C>A	c.(1321-1323)Cgc>Agc	p.R441S	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R441S|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R441S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	441							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCTGCCAGCGAACAAACTTC	0.448													False	0	False	20:47887028	0	T	47887028	G	T	47887028	3	4	79	1	0	0	0	0	1	0	0	0	18287	1058	37	3	4483	3	ZNFX1	20	47887028	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	12353202	47887028	15138492	378	6845											
ZNF217	7764	broad.mit.edu	37	chr20	52193233	52193233	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caattgtgaagagcccccacGgataaatttaaaggtttttc	8	8	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:52193233G>T	ENST00000371471.2	-	4	2495	c.2070C>A	c.(2068-2070)tcC>tcA	p.S690S	ZNF217_ENST00000302342.3_Silent_p.S690S			O75362	ZN217_HUMAN	zinc finger protein 217	690					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAGCCCCCACGGATAAATTTA	0.428													False	0	False	20:52193233	0	T	52193233	G	T	52193233	2	4	79	1	0	0	0	0	0	0	0	1	17855	1103	39	3		3	ZNF217	20	52193233	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4306205	52193233	10832287	379	6846											
ADAMTS1	9510	broad.mit.edu	37	chr21	28212612	28212612	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacatcaaaatgctttctgtCggttttgttcacacacttgc	6	11	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:28212612C>A	ENST00000284984.3	-	5	2102	c.1648G>T	c.(1648-1650)Gac>Tac	p.D550Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1		Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGCTTTCTGTCGGTTTTGTTC	0.433													False	0	False	21:28212612	0	A	28212612	C	A	28212612	3	1	79	1	0	0	0	0	1	0	0	0	255	884	31	3	1275	3	ADAMTS1	21	28212612	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08		28212612	19917283	380	6847											
HUNK	30811	broad.mit.edu	37	chr21	33312484	33312484	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttatttcagagacttgAagatagagaatttgctacta	8	4	1	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:33312484A>G	ENST00000270112.2	+	3	922	c.562A>G	c.(562-564)Aag>Gag	p.K188E		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	188	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CAGAGACTTGAAGATAGAGAA	0.299													False	0	False	21:33312484	0	G	33312484	A	G	33312484	3	3	79	1	0	0	0	0	1	0	0	0	7508	247	9	4	572	4	HUNK	21	33312484	Missense_Mutation	SNP	A	TCGA-HZ-A77Q-01A-11D-A36O-08	5099872	33312484	14817411	381	6848											
TTC3	7267	broad.mit.edu	37	chr21	38501361	38501361	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacaatgaatcagaaaagttCaggtatgttttttctctaag	7	5	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:38501361C>A	ENST00000399017.2	+	16	4103	c.1356C>A	c.(1354-1356)ttC>ttA	p.F452L	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.F142L|TTC3_ENST00000355666.1_Missense_Mutation_p.F452L|TTC3_ENST00000354749.2_Missense_Mutation_p.F452L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	452					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGAAAAGTTCAGGTATGTTT	0.299													False	0	False	21:38501361	0	A	38501361	C	A	38501361	3	1	79	1	0	0	0	0	1	0	0	0	16781	825	29	3	1414	3	TTC3	21	38501361	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5188877	38501361	9628534	382	6849											
BRWD1	54014	broad.mit.edu	37	chr21	40578076	40578076	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacctttacaattttgcCgttgcttgaacctctggctt	7	11	2	1	rs147847700	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:40578076C>A	ENST00000342449.3	-	37	4400	c.4322G>T	c.(4321-4323)cGg>cTg	p.R1441L	BRWD1_ENST00000333229.2_Missense_Mutation_p.R1441L|BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441L	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAATTTTGCCGTTGCTTGAA	0.328													False	0	False	21:40578076	0	A	40578076	C	A	40578076	3	1	79	1	0	0	0	0	1	0	0	0	1532	652	23	3	2903	3	BRWD1	21	40578076	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2076715	40578076	7551819	383	6850											
PCP4	5121	broad.mit.edu	37	chr21	41300976	41300976	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagacagaacgtgcagcGgtggccattcagtctcagtt	12	11	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:41300976G>A	ENST00000328619.5	+	3	314	c.129G>A	c.(127-129)gcG>gcA	p.A43A	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	43	IQ.				central nervous system development	cytosol|nucleus		p.A43A(1)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				AACGTGCAGCGGTGGCCATTC	0.463													False	0	False	21:41300976	0	A	41300976	G	A	41300976	2	1	79	1	0	0	0	0	0	0	0	1	11666	1103	39	1		1	PCP4	21	41300976	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	722900	41300976	6828919	384	6851											
POFUT2	23275	broad.mit.edu	37	chr21	46687600	46687600	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttcaaacctcaccatctcGggtaacagcttttttagctc	7	12	3	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:46687600G>T	ENST00000331343.7	-	8	1067	c.1041C>A	c.(1039-1041)ccC>ccA	p.P347P	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Silent_p.P347P	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	347					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TCACCATCTCGGGTAACAGCT	0.517													False	0	True	21:46687600	0	T	46687600	G	T	46687600	2	4	79	1	0	0	0	0	0	0	0	1	12253	1103	39	3		3	POFUT2	21	46687600	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	5386624	46687600	1442295	385	6852											
PCBP3	54039	broad.mit.edu	37	chr21	47359992	47359992	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggaccaaaatcaatgaaattCgacagatgtctggagctcag	10	8	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:47359992C>A	ENST00000400314.1	+	15	1296	c.958C>A	c.(958-960)Cga>Aga	p.R320R	PCBP3_ENST00000400310.1_Silent_p.R300R|PCBP3_ENST00000449640.1_Silent_p.R320R|PCBP3_ENST00000400304.1_Silent_p.R310R|PCBP3_ENST00000400309.1_Silent_p.R319R|PCBP3_ENST00000400308.1_Silent_p.R294R			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	320	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAATGAAATTCGACAGATGTC	0.537													False	0	False	21:47359992	0	A	47359992	C	A	47359992	2	1	79	1	0	0	0	0	0	0	0	1	11570	876	31	3		3	PCBP3	21	47359992	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	672392	47359992	769903	386	6853											
POTEH	23784	broad.mit.edu	37	chr22	16279236	16279236	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttaaatttgcttttttcttGattaaaaatttcaccacttg	3	6	2	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:16279236G>T	ENST00000343518.6	-	4	1038	c.987C>A	c.(985-987)atC>atA	p.I329I		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	329										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTTTTTCTTGATTAAAAATT	0.333													False	0	False	22:16279236	0	T	16279236	G	T	16279236	2	4	79	1	0	0	0	0	0	0	0	1	12336	1280	45	3		3	POTEH	22	16279236	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08		16279236	35025330	387	6854											
KLHL22	84861	broad.mit.edu	37	chr22	20819390	20819390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgaccgcagctccgtttgCgggctctgcaggctgggctg	15	14	1	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:20819390C>T	ENST00000328879.4	-	4	1023	c.867G>A	c.(865-867)ccG>ccA	p.P289P	KLHL22_ENST00000440659.2_Silent_p.P146P	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	289					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCTCCGTTTGCGGGCTCTGCA	0.632													False	0	True	22:20819390	0	T	20819390	C	T	20819390	2	4	79	1	0	0	0	0	0	0	0	1	8427	755	27	1		1	KLHL22	22	20819390	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4540154	20819390	30485176	388	6855											
AP1B1	162	broad.mit.edu	37	chr22	29763226	29763226	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgtggtgaaatattttgagtCagtcattttggtcccttatc	9	7	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:29763226C>A	ENST00000357586.2	-	2	193	c.7G>T	c.(7-9)Gac>Tac	p.D3Y	AP1B1_ENST00000405198.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000317368.7_Missense_Mutation_p.D3Y|AP1B1_ENST00000432560.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000356015.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000402502.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000415447.1_Intron	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	3					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TATTTTGAGTCAGTCATTTTG	0.438													False	0	True	22:29763226	0	A	29763226	C	A	29763226	3	1	79	1	0	0	0	0	1	0	0	0	733	826	29	3	2930	3	AP1B1	22	29763226	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8943836	29763226	21541340	389	6856											
MORC2	22880	broad.mit.edu	37	chr22	31328956	31328956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgcttgcccacctccacGgctgtgacacggcccgtgta	10	16	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:31328956G>A	ENST00000397641.3	-	22	2850	c.2442C>T	c.(2440-2442)gcC>gcT	p.A814A	MORC2_ENST00000215862.4_Silent_p.A752A			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCACCTCCACGGCTGTGACAC	0.572													False	0	False	22:31328956	0	A	31328956	G	A	31328956	2	1	79	1	0	0	0	0	0	0	0	1	9769	1103	39	1		1	MORC2	22	31328956	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	1565730	31328956	19975610	390	6857											
SHROOM2	357	broad.mit.edu	37	chrX	9864330	9864330	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatactgtgggcacgttTgctgacaggtggaagttttt	15	5	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:9864330T>C	ENST00000380913.3	+	4	2472	c.2382T>C	c.(2380-2382)ttT>ttC	p.F794F		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	794					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGGGCACGTTTGCTGACAGGT	0.557													False	0	True	X:9864330	0	C	9864330	T	C	9864330	2	2	79	1	0	0	0	0	0	0	0	1	14375	1809	63	4		4	SHROOM2	23	9864330	Silent	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08		9864330	145406230	391	6858											
WWC3	55841	broad.mit.edu	37	chrX	10090729	10090729	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcatctccgcatgtctgtcGgattattcgctagccagcga	10	13	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:10090729G>T	ENST00000380861.4	+	12	2092	c.1701G>T	c.(1699-1701)tcG>tcT	p.S567S	WWC3_ENST00000454666.1_Silent_p.S567S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	567										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CATGTCTGTCGGATTATTCGC	0.522													False	0	True	X:10090729	0	T	10090729	G	T	10090729	2	4	79	1	0	0	0	0	0	0	0	1	17497	1103	39	3		3	WWC3	23	10090729	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	226399	10090729	145179831	392	6859											
FRMPD4	9758	broad.mit.edu	37	chrX	12736390	12736390	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggacttggtcaaggggacCgcttcttaactgacgtgacc	12	11	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:12736390C>A	ENST00000380682.1	+	16	3951	c.3445C>A	c.(3445-3447)Cgc>Agc	p.R1149S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1149					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAAGGGGACCGCTTCTTAAC	0.547													False	0	False	X:12736390	0	A	12736390	C	A	12736390	3	1	79	1	0	0	0	0	1	0	0	0	6101	652	23	3	3507	3	FRMPD4	23	12736390	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2645661	12736390	142534170	393	6860											
ACE2	59272	broad.mit.edu	37	chrX	15610443	15610443	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attgtatttagaattgtgttCaactgcaaattaaagataat	6	3	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:15610443C>A	ENST00000427411.1	-	4	564	c.348G>T	c.(346-348)ttG>ttT	p.L116F	ACE2_ENST00000252519.3_Missense_Mutation_p.L116F	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	116					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	GAATTGTGTTCAACTGCAAAT	0.313													False	0	False	X:15610443	0	A	15610443	C	A	15610443	3	1	79	1	0	0	0	0	1	0	0	0	137	825	29	3	2133	3	ACE2	23	15610443	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	2874053	15610443	139660117	394	6861											
NHS	4810	broad.mit.edu	37	chrX	17745520	17745520	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtgctcttcataatgtcttGaacaaaccattccaccaccg	5	13	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:17745520G>T	ENST00000380060.3	+	6	3569	c.3231G>T	c.(3229-3231)ttG>ttT	p.L1077F	NHS_ENST00000398097.3_Missense_Mutation_p.L921F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1077						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ATAATGTCTTGAACAAACCAT	0.413													False	0	False	X:17745520	0	T	17745520	G	T	17745520	3	4	79	1	0	0	0	0	1	0	0	0	10479	1281	45	3	3358	3	NHS	23	17745520	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2135077	17745520	137525040	395	6862											
CDKL5	6792	broad.mit.edu	37	chrX	18631387	18631387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcaaaaagacaaccagcattCgatccatggtgagcattttg	8	9	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:18631387C>A	ENST00000379989.3	+	16	2553	c.2268C>A	c.(2266-2268)ttC>ttA	p.F756L	CDKL5_ENST00000463994.1_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.F756L	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	756				Missing (in Ref. 4; CAA61445).	neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AACCAGCATTCGATCCATGGT	0.353													False	0	False	X:18631387	0	A	18631387	C	A	18631387	3	1	79	1	0	0	0	0	1	0	0	0	3180	883	31	3	2322	3	CDKL5	23	18631387	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	885867	18631387	136639173	396	6863											
PHKA2	5256	broad.mit.edu	37	chrX	18911697	18911697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcccataagccccactcGgagcgctgtcataaaagaag	9	13	1	1	rs137852288		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:18911697G>T	ENST00000379942.4	-	33	4279	c.3614C>A	c.(3613-3615)cCg>cAg	p.P1205Q	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1205			P -> L (in GSD9A; type 1).		glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGCCCCACTCGGAGCGCTGTC	0.527													False	0	False	X:18911697	0	T	18911697	G	T	18911697	3	4	79	1	0	0	0	0	1	0	0	0	11913	1116	39	3	97	3	PHKA2	23	18911697	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	280310	18911697	136358863	397	6864											
CXorf22	170063	broad.mit.edu	37	chrX	35993949	35993949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggacagttagattgtataatCgtcagaattgttgtgctcag	11	5	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:35993949C>A	ENST00000297866.5	+	15	2698	c.2632C>A	c.(2632-2634)Cgt>Agt	p.R878S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	878										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTGTATAATCGTCAGAATTG	0.403													False	0	False	X:35993949	0	A	35993949	C	A	35993949	3	1	79	1	0	0	0	0	1	0	0	0	4127	884	31	3	2690	3	CXorf22	23	35993949	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	17082252	35993949	119276611	398	6865											
USP9X	8239	broad.mit.edu	37	chrX	41045841	41045841	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcattcctaatccatcatcCgagtgcatgcttagaaatgt	7	10	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:41045841C>A	ENST00000324545.8	+	24	4263	c.3630C>A	c.(3628-3630)tcC>tcA	p.S1210S	USP9X_ENST00000378308.2_Silent_p.S1210S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.S1203S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATCCATCATCCGAGTGCATGC	0.403													False	0	False	X:41045841	0	A	41045841	C	A	41045841	2	1	79	1	0	0	0	0	0	0	0	1	17174	639	23	3		3	USP9X	23	41045841	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	5051892	41045841	114224719	399	6866											
FOXP3	50943	broad.mit.edu	37	chrX	49113997	49113997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctgcagcacaggggtcCgggcgtgggcatccaccgtt	15	14	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:49113997C>T	ENST00000376207.4	-	4	528	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	FOXP3_ENST00000376197.1_Missense_Mutation_p.R64Q|FOXP3_ENST00000518685.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000455775.2_Missense_Mutation_p.R114Q|FOXP3_ENST00000557224.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000376199.2_Missense_Mutation_p.R79Q	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	114					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CACAGGGGTCCGGGCGTGGGC	0.682													False	0	True	X:49113997	0	T	49113997	C	T	49113997	3	4	79	1	0	0	0	0	1	0	0	0	6070	652	23	1	990	1	FOXP3	23	49113997	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8068156	49113997	106156563	400	6867											
CCNB3	85417	broad.mit.edu	37	chrX	50053963	50053963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcttcgaagatatgataGctctgaatgagaaacccacc	7	11	2	4			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:50053963G>A	ENST00000376042.1	+	6	3092	c.2794G>A	c.(2794-2796)Gct>Act	p.A932T	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A932T|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	932					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGATATGATAGCTCTGAATGA	0.463													False	0	False	X:50053963	0	A	50053963	G	A	50053963	3	1	79	1	0	0	0	0	1	0	0	0	2937	971	34	2	2808	2	CCNB3	23	50053963	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	939966	50053963	105216597	401	6868											
ZC3H12B	340554	broad.mit.edu	37	chrX	64719034	64719034	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtccaatgataactacCgagaccttcaagttgaaaag	8	8	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:64719034C>A	ENST00000338957.4	+	3	971	c.904C>A	c.(904-906)Cga>Aga	p.R302R	ZC3H12B_ENST00000423889.3_Silent_p.R291R	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	291							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATAACTACCGAGACCTTCA	0.443													False	0	False	X:64719034	0	A	64719034	C	A	64719034	2	1	79	1	0	0	0	0	0	0	0	1	17645	644	23	3		3	ZC3H12B	23	64719034	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	14665071	64719034	90551526	402	6869											
MSN	4478	broad.mit.edu	37	chrX	64949377	64949377	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctaccctgaggatgtgtcCgaggaattgattcaggacat	11	8	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:64949377C>A	ENST00000360270.5	+	4	442	c.270C>A	c.(268-270)tcC>tcA	p.S90S		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	90	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	p.S90S(2)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AGGATGTGTCCGAGGAATTGA	0.517			T	ALK	ALCL								False	0	False	X:64949377	0	A	64949377	C	A	64949377	2	1	79	1	0	0	0	0	0	0	0	1	9952	639	23	3		3	MSN	23	64949377	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	230343	64949377	90321183	403	6870											
EDA2R	60401	broad.mit.edu	37	chrX	65819559	65819559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccactagtcgagctgcagtCgtcctcgaggatagggttaa	13	10	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:65819559C>T	ENST00000374719.3	-	6	717	c.661G>A	c.(661-663)Gac>Aac	p.D221N	EDA2R_ENST00000451436.2_Missense_Mutation_p.D97N|EDA2R_ENST00000396050.1_Missense_Mutation_p.D221N|EDA2R_ENST00000450752.1_Missense_Mutation_p.D242N|EDA2R_ENST00000456230.2_Missense_Mutation_p.D221N|EDA2R_ENST00000253392.5_Missense_Mutation_p.D242N	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	221					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GAGCTGCAGTCGTCCTCGAGG	0.577													False	0	False	X:65819559	0	T	65819559	C	T	65819559	3	4	79	1	0	0	0	0	1	0	0	0	4934	884	31	1	236	1	EDA2R	23	65819559	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	870182	65819559	89451001	404	6871											
ARR3	407	broad.mit.edu	37	chrX	69497974	69497974	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagtacaccaagactgtgttCattcaggaattcacgtgagc	9	9	3	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:69497974C>A	ENST00000374495.3	+	11	851	c.753C>A	c.(751-753)ttC>ttA	p.F251L	ARR3_ENST00000307959.8_Missense_Mutation_p.F251L			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	251					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AGACTGTGTTCATTCAGGAAT	0.512													False	0	True	X:69497974	0	A	69497974	C	A	69497974	3	1	79	1	0	0	0	0	1	0	0	0	983	825	29	3	791	3	ARR3	23	69497974	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3678415	69497974	85772586	405	6872											
KIAA2022	340533	broad.mit.edu	37	chrX	73963428	73963428	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caaaagagtagtcttgtctcGaacattgtcctgaaaggatt	9	7	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:73963428G>T	ENST00000055682.6	-	3	1575	c.964C>A	c.(964-966)Cga>Aga	p.R322R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.R322*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTCTTGTCTCGAACATTGTCC	0.438													False	0	False	X:73963428	0	T	73963428	G	T	73963428	2	4	79	1	0	0	0	0	0	0	0	1	8319	1066	37	3		3	KIAA2022	23	73963428	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4465454	73963428	81307132	406	6873											
ATRX	546	broad.mit.edu	37	chrX	76939312	76939312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgttctttgttcctctgttGgaacattctgatgcatgtgc	9	8	3	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:76939312G>T	ENST00000373344.5	-	9	1650	c.1436C>A	c.(1435-1437)cCa>cAa	p.P479Q	ATRX_ENST00000395603.3_Missense_Mutation_p.P441Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	479					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCCTCTGTTGGAACATTCTG	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						False	0	False	X:76939312	0	T	76939312	G	T	76939312	3	4	79	1	0	0	0	0	1	0	0	0	1212	1348	47	3	6150	3	ATRX	23	76939312	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	2975884	76939312	78331248	407	6874											
ATP7A	538	broad.mit.edu	37	chrX	77298876	77298876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagacagtcaagaggattcGgataaattttgtctttgctc	10	6	2	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:77298876G>T	ENST00000341514.6	+	21	4222	c.4067G>T	c.(4066-4068)cGg>cTg	p.R1356L	ATP7A_ENST00000343533.5_Missense_Mutation_p.R1278L|ATP7A_ENST00000350425.4_Missense_Mutation_p.R359L	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1356					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAGAGGATTCGGATAAATTTT	0.343													False	0	False	X:77298876	0	T	77298876	G	T	77298876	3	4	79	1	0	0	0	0	1	0	0	0	1194	1116	39	3	4145	3	ATP7A	23	77298876	Missense_Mutation	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	359564	77298876	77971684	408	6875											
PCDH11X	27328	broad.mit.edu	37	chrX	91090850	91090850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtggaggttgccattttgcCggatgaaatatttagactgg	13	5	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:91090850C>A	ENST00000373094.1	+	1	1192	c.347C>A	c.(346-348)cCg>cAg	p.P116Q	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P116Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	116	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P116Q(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCATTTTGCCGGATGAAATA	0.393													False	0	False	X:91090850	0	A	91090850	C	A	91090850	3	1	79	1	0	0	0	0	1	0	0	0	11576	652	23	3	349	3	PCDH11X	23	91090850	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	13791974	91090850	64179710	409	6876											
NXF5	55998	broad.mit.edu	37	chrX	101097757	101097757	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttttcatcttgtgtgttcCgcctcatttttctctctgga	7	10	5	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:101097757C>A	ENST00000537026.1	-	3	367	c.8G>T	c.(7-9)cGg>cTg	p.R3L	NXF5_ENST00000473265.2_Missense_Mutation_p.R3L|NXF5_ENST00000361708.2_Missense_Mutation_p.R3L	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	3					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTGTGTGTTCCGCCTCATTTT	0.423													False	0	False	X:101097757	0	A	101097757	C	A	101097757	3	1	79	1	0	0	0	0	1	0	0	0	10854	652	23	3	1145	3	NXF5	23	101097757	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	10006907	101097757	54172803	410	6877											
TBC1D8B	54885	broad.mit.edu	37	chrX	106092492	106092492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggttcagatgattttatgCcactagtaagaatccaagga	9	6	1	3			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:106092492C>T	ENST00000310452.2	+	12	2020	c.1855C>T	c.(1855-1857)Cca>Tca	p.P619S	TBC1D8B_ENST00000357242.5_Intron|TBC1D8B_ENST00000276175.3_Intron	NM_198881.1	NP_942582.1	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	0	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGATTTTATGCCACTAGTAAG	0.328													False	0	False	X:106092492	0	T	106092492	C	T	106092492	3	4	79	1	0	0	0	0	1	0	0	0	15708	739	26	2	1901	2	TBC1D8B	23	106092492	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	4994735	106092492	49178068	411	6878											
HTR2C	3358	broad.mit.edu	37	chrX	114141360	114141360	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttactgcacggccacacCgaggaaccgcctggactaag	11	13	0	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:114141360C>A	ENST00000276198.1	+	6	1487	c.759C>A	c.(757-759)acC>acA	p.T253T	HTR2C_ENST00000371951.1_Silent_p.T253T|HTR2C_ENST00000371950.3_Silent_p.R222R	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	253					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.T253T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACGGCCACACCGAGGAACCGC	0.512													False	0	False	X:114141360	0	A	114141360	C	A	114141360	2	1	79	1	0	0	0	0	0	0	0	1	7493	639	23	3		3	HTR2C	23	114141360	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	8048868	114141360	41129200	412	6879											
DOCK11	139818	broad.mit.edu	37	chrX	117796744	117796744	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgctgggatgatggatgtcCattatagtgaagtaaggatt	13	3	0	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117796744C>A	ENST00000276204.6	+	45	5139	c.5065C>A	c.(5065-5067)Cat>Aat	p.H1689N	DOCK11_ENST00000276202.7_Missense_Mutation_p.H1689N			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1689	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GATGGATGTCCATTATAGTGA	0.338													False	0	False	X:117796744	0	A	117796744	C	A	117796744	3	1	79	1	0	0	0	0	1	0	0	0	4716	594	21	3	5243	3	DOCK11	23	117796744	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3655384	117796744	37473816	413	6880											
IL13RA1	3597	broad.mit.edu	37	chrX	117925772	117925772	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcaaaccaaggaggaaacCgactctgtagtgctgataga	11	8	1	2			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117925772C>A	ENST00000371666.3	+	11	1306	c.1239C>A	c.(1237-1239)acC>acA	p.T413T	IL13RA1_ENST00000371637.3_Silent_p.T212T	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	413						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGGAGGAAACCGACTCTGTAG	0.393													False	0	False	X:117925772	0	A	117925772	C	A	117925772	2	1	79	1	0	0	0	0	0	0	0	1	7679	639	23	3		3	IL13RA1	23	117925772	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	129028	117925772	37344788	414	6881											
THOC2	57187	broad.mit.edu	37	chrX	122800961	122800961	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtataaagttacataccttcGgtagagaggctcaatagtta	9	6	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:122800961G>T	ENST00000245838.8	-	11	1217	c.1186C>A	c.(1186-1188)Cga>Aga	p.R396R	THOC2_ENST00000355725.4_Silent_p.R396R|THOC2_ENST00000491737.1_Silent_p.R281R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	396					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACATACCTTCGGTAGAGAGGC	0.348													False	0	False	X:122800961	0	T	122800961	G	T	122800961	2	4	79	1	0	0	0	0	0	0	0	1	15947	1124	39	3		3	THOC2	23	122800961	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	4875189	122800961	32469599	415	6882											
STAG2	10735	broad.mit.edu	37	chrX	123200044	123200044	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccatgacctttcaaagTgggatttatttgcttgtaat	9	7	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:123200044T>G	ENST00000371160.1	+	22	2406	c.2116T>G	c.(2116-2118)Tgg>Ggg	p.W706G	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.W706G|STAG2_ENST00000218089.9_Missense_Mutation_p.W706G|STAG2_ENST00000371157.3_Missense_Mutation_p.W706G|STAG2_ENST00000371145.3_Missense_Mutation_p.W706G|STAG2_ENST00000354548.5_Missense_Mutation_p.W637G	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	706				W -> R (in Ref. 5; CAA99732).	cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCTTTCAAAGTGGGATTTATT	0.289													False	0	True	X:123200044	0	G	123200044	T	G	123200044	3	3	79	1	0	0	0	0	1	0	0	0	15325	1696	59	4	2194	4	STAG2	23	123200044	Missense_Mutation	SNP	T	TCGA-HZ-A77Q-01A-11D-A36O-08	399083	123200044	32070516	416	6883											
CXorf48	54967	broad.mit.edu	37	chrX	134294414	134294414	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttatagaagtaacacatcCaattaaaactctggttcctg	5	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:134294414C>A	ENST00000344129.2	-	3	572	c.346G>T	c.(346-348)Gga>Tga	p.G116*	CXorf48_ENST00000276241.6_Nonsense_Mutation_p.G116*	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	116										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GTAACACATCCAATTAAAACT	0.328													False	0	False	X:134294414	0	A	134294414	C	A	134294414	4	1	79	1	0	0	0	0	0	1	0	0	4136	603	21	3	468	3	CXorf48	23	134294414	Nonsense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	11094370	134294414	20976146	417	6884											
MMGT1	93380	broad.mit.edu	37	chrX	135049610	135049610	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcaatatgaactatacCgtaacaggtaactgcaaagg	8	9	0	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:135049610C>A	ENST00000305963.2	-	3	562	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C	MMGT1_ENST00000433339.2_Missense_Mutation_p.G124C	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	59						early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						TGAACTATACCGTAACAGGTA	0.318													False	0	False	X:135049610	0	A	135049610	C	A	135049610	3	1	79	1	0	0	0	0	1	0	0	0	9714	652	23	3	228	3	MMGT1	23	135049610	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	755196	135049610	20220950	418	6885											
ATP11C	286410	broad.mit.edu	37	chrX	138865392	138865392	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcactctgggaaaaactgcCgagtctgctcctttacaaaa	8	11	2	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:138865392C>A	ENST00000370557.1	-	17	2728	c.1701G>T	c.(1699-1701)tcG>tcT	p.S567S	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Silent_p.S570S|ATP11C_ENST00000327569.3_Silent_p.S570S|ATP11C_ENST00000370543.1_Silent_p.S570S|ATP11C_ENST00000361648.2_Silent_p.S570S			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	570					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GAAAAACTGCCGAGTCTGCTC	0.383													False	0	False	X:138865392	0	A	138865392	C	A	138865392	2	1	79	1	0	0	0	0	0	0	0	1	1125	639	23	3		3	ATP11C	23	138865392	Silent	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	3815782	138865392	16405168	419	6886											
SPANXN2	494119	broad.mit.edu	37	chrX	142803706	142803706	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcattttttttgttattGgattcacaggggctcttcct	7	8	4	0			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:142803706G>T	ENST00000370498.1	-	1	810	c.57C>A	c.(55-57)tcC>tcA	p.S19S		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	19										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGTTATTGGATTCACAGG	0.443													False	0	False	X:142803706	0	T	142803706	G	T	142803706	2	4	79	1	0	0	0	0	0	0	0	1	15073	1335	47	3		3	SPANXN2	23	142803706	Silent	SNP	G	TCGA-HZ-A77Q-01A-11D-A36O-08	3938314	142803706	12466854	420	6887											
IDH3G	3421	broad.mit.edu	37	chrX	153053545	153053545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcaccgaaggatgttgtttCgagatttgtgcgacggtggc	14	8	1	1			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:153053545C>A	ENST00000370092.3	-	6	577	c.392G>T	c.(391-393)cGa>cTa	p.R131L	IDH3G_ENST00000217901.5_Missense_Mutation_p.R131L|IDH3G_ENST00000370093.1_Missense_Mutation_p.R131L|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_Missense_Mutation_p.R73L	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	131					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	p.R131Q(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GATGTTGTTTCGAGATTTGTG	0.592													False	0	True	X:153053545	0	A	153053545	C	A	153053545	3	1	79	1	0	0	0	0	1	0	0	0	7548	884	31	3	884	3	IDH3G	23	153053545	Missense_Mutation	SNP	C	TCGA-HZ-A77Q-01A-11D-A36O-08	10249839	153053545	2217015	421	6888											
SLC6A9	6536	broad.mit.edu	37	chr1	44463241	44463241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgggagtcctggaggcgGctggagccattactgcccac	14	13	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:44463241G>A	ENST00000372310.3	-	14	2043	c.1878C>T	c.(1876-1878)agC>agT	p.S626S	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000360584.2_Silent_p.S699S|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Silent_p.S645S|SLC6A9_ENST00000475075.2_Silent_p.S515S	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	699						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCTGGAGGCGGCTGGAGCCAT	0.677													False	0	False	1:44463241	0	A	44463241	G	A	44463241	2	1	80	1	0	0	0	0	0	0	0	1	14771	1194	42	2		2	SLC6A9	1	44463241	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08		44463241	204787380	1	6889											
SLC6A9	6536	broad.mit.edu	37	chr1	44463406	44463406	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttggctttgtggcatttttCaaacgctgcatgaggtaggc	12	8	1	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:44463406C>A	ENST00000372310.3	-	14	1878	c.1713G>T	c.(1711-1713)ttG>ttT	p.L571F	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000360584.2_Missense_Mutation_p.L644F|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Missense_Mutation_p.L590F|SLC6A9_ENST00000475075.2_Missense_Mutation_p.L460F	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	644						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGGCATTTTTCAAACGCTGCA	0.647													False	0	True	1:44463406	0	A	44463406	C	A	44463406	3	1	80	1	0	0	0	0	1	0	0	0	14771	825	29	3	192	3	SLC6A9	1	44463406	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	165	44463406	204787215	2	6890											
PHGDH	26227	broad.mit.edu	37	chr1	120263916	120263916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaatgtggatctggaggccGcaacaaggaagggcatcttg	14	8	2	0	rs142988234		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:120263916G>A	ENST00000369407.3	+	1	1667	c.160G>A	c.(160-162)Gca>Aca	p.A54T	PHGDH_ENST00000369409.4_Missense_Mutation_p.A88T			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	88					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	TCTGGAGGCCGCAACAAGGAA	0.587													False	0	False	1:120263916	0	A	120263916	G	A	120263916	3	1	80	1	0	0	0	0	1	0	0	0	11910	1087	38	1	268	1	PHGDH	1	120263916	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	75800510	120263916	128986705	3	6891											
FMO5	2330	broad.mit.edu	37	chr1	146672844	146672844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcctttccaggttaggaGggaagacctttttatacagg	12	7	0	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:146672844G>A	ENST00000254090.4	-	7	1461	c.1073C>T	c.(1072-1074)cCt>cTt	p.P358L	RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000369272.3_Intron|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.P358L	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	358						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CAGGTTAGGAGGGAAGACCTT	0.468													False	0	True	1:146672844	0	A	146672844	G	A	146672844	3	1	80	1	0	0	0	0	1	0	0	0	5998	1000	35	2	683	2	FMO5	1	146672844	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	26408928	146672844	102577777	4	6892											
SV2A	0	broad.mit.edu	37	chr1	149882423	149882423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagcagctgcgtacacgcCaccaatcatccaaaacatgc	6	15	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:149882423C>T	ENST00000369146.3	-	4	1400	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	SV2A_ENST00000369145.1_Missense_Mutation_p.G304S	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	304					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCGTACACGCCACCAATCATC	0.562													False	0	False	1:149882423	0	T	149882423	C	T	149882423	3	4	80	1	0	0	0	0	1	0	0	0	15499	594	21	2	1358	2	SV2A	1	149882423	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	3209579	149882423	99368198	5	6893											
GABPB2	126626	broad.mit.edu	37	chr1	151063024	151063024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcagccgatggacatgCgcacatcgtggaactgcttg	14	11	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:151063024C>T	ENST00000368918.3	+	3	582	c.251C>T	c.(250-252)gCg>gTg	p.A84V	GABPB2_ENST00000368917.1_Missense_Mutation_p.A84V|GABPB2_ENST00000368916.1_Missense_Mutation_p.A84V	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	84					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GATGGACATGCGCACATCGTG	0.488													False	0	False	1:151063024	0	T	151063024	C	T	151063024	3	4	80	1	0	0	0	0	1	0	0	0	6201	768	27	1	257	1	GABPB2	1	151063024	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	1180601	151063024	98187597	6	6894											
HRNR	388697	broad.mit.edu	37	chr1	152192788	152192788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccagtcccatgttggccGgagctgggagactgccctga	14	12	0	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:152192788G>A	ENST00000368801.2	-	3	1392	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	439					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGGCCGGAGCTGGGAG	0.617													False	0	False	1:152192788	0	A	152192788	G	A	152192788	2	1	80	1	0	0	0	0	0	0	0	1	7406	1103	39	1		1	HRNR	1	152192788	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	1129764	152192788	97057833	7	6895											
CCT3	7203	broad.mit.edu	37	chr1	156280946	156280946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtccaggagaacattgCgacacacttgcatggcatcc	12	11	0	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:156280946C>T	ENST00000295688.3	-	12	1476	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	CCT3_ENST00000368259.2_Missense_Mutation_p.R361H|CCT3_ENST00000472765.2_Missense_Mutation_p.R354H|CCT3_ENST00000368261.3_Missense_Mutation_p.R354H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	399					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GAGAACATTGCGACACACTTG	0.537													False	0	False	1:156280946	0	T	156280946	C	T	156280946	3	4	80	1	0	0	0	0	1	0	0	0	2977	768	27	1	453	1	CCT3	1	156280946	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	4088158	156280946	92969675	8	6896											
ADCY10	55811	broad.mit.edu	37	chr1	167865890	167865890	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgtacactttgtgaaaaattCatcaaaattaaaattggggg	8	5	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:167865890C>A	ENST00000367848.1	-	7	903	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E75*|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.E228*			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	228	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GTGAAAAATTCATCAAAATTA	0.358													False	0	False	1:167865890	0	A	167865890	C	A	167865890	4	1	80	1	0	0	0	0	0	1	0	0	293	835	29	3	4258	3	ADCY10	1	167865890	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	11584944	167865890	81384731	9	6897											
PRG4	10216	broad.mit.edu	37	chr1	186269304	186269304	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgattataactgtcaacactAcatggagtgctgccctgatt	8	9	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:186269304A>C	ENST00000445192.2	+	3	203	c.158A>C	c.(157-159)tAc>tCc	p.Y53S	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.Y53S|PRG4_ENST00000367486.3_Missense_Mutation_p.Y53S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	53	SMB 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGTCAACACTACATGGAGTGC	0.483													False	0	False	1:186269304	0	C	186269304	A	C	186269304	3	2	80	1	0	0	0	0	1	0	0	0	12557	391	14	4	164	4	PRG4	1	186269304	Missense_Mutation	SNP	A	TCGA-HZ-A8P0-01A-11D-A36O-08	18403414	186269304	62981317	10	6898											
F13B	2165	broad.mit.edu	37	chr1	197032085	197032085	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaccagccaagcagaaaaatGacaattttttgtctatgctc	6	9	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:197032085G>T	ENST00000367412.1	-	2	210	c.167C>A	c.(166-168)tCa>tAa	p.S56*		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	56	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GCAGAAAAATGACAATTTTTT	0.398													False	0	False	1:197032085	0	T	197032085	G	T	197032085	4	4	80	1	0	0	0	0	0	1	0	0	5374	1294	45	3	1862	3	F13B	1	197032085	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	10762781	197032085	52218536	11	6899											
ASPM	259266	broad.mit.edu	37	chr1	197062244	197062244	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aactgtagattttttaaattCaatatattttatcctttcat	2	5	2	1	rs36074161		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:197062244C>A	ENST00000367409.4	-	21	9488	c.9232G>T	c.(9232-9234)Gaa>Taa	p.E3078*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.E1493*|ASPM_ENST00000367408.1_Nonsense_Mutation_p.E743*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3078					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTTAAATTCAATATATTTT	0.363													False	0	False	1:197062244	0	A	197062244	C	A	197062244	4	1	80	1	0	0	0	0	0	1	0	0	1060	835	29	3	1233	3	ASPM	1	197062244	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	30159	197062244	52188377	12	6900											
MYBPH	4608	broad.mit.edu	37	chr1	203138179	203138179	+	Silent	SNP	G	G	A													agggcgcggtatttggggttGccctggatctccatcttgtt							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:203138179G>A	ENST00000255416.4	-	9	1329	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	424	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ATTTGGGGTTGCCCTGGATCT	0.562													False	0	True	1:203138179	0	A	203138179	G	A	203138179	2	1	80	1	0	0	0	0	0	0	0	1	10081	1306	46	2		2	MYBPH	1	203138179	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	6075935	203138179	46112442	13	6901	123	2									
MYBPH	4608	broad.mit.edu	37	chr1	203138180	203138180	+	Missense_Mutation	SNP	C	C	T													gggcgcggtatttggggttgCcctggatctccatcttgttt							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:203138180C>T	ENST00000255416.4	-	9	1328	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	424	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TTTGGGGTTGCCCTGGATCTC	0.567													False	0	True	1:203138180	0	T	203138180	C	T	203138180	3	4	80	1	0	0	0	0	1	0	0	0	10081	739	26	2	170	2	MYBPH	1	203138180	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	1	203138180	46112441	14	6902	123	2									
USH2A	7399	broad.mit.edu	37	chr1	216495296	216495296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttgttgtgtcgcagttatCggcatgaccatggcactgac	12	10	0	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:216495296C>T	ENST00000366943.2	-	9	1959	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	USH2A_ENST00000307340.3_Missense_Mutation_p.D525N|USH2A_ENST00000366942.3_Missense_Mutation_p.D525N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	525	Laminin EGF-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCGCAGTTATCGGCATGACCA	0.443										HNSCC(13;0.011)			False	0	False	1:216495296	0	T	216495296	C	T	216495296	3	4	80	1	0	0	0	0	1	0	0	0	17120	884	31	1	14305	1	USH2A	1	216495296	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	13357116	216495296	32755325	15	6903											
DISP1	84976	broad.mit.edu	37	chr1	223176847	223176847	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgccatttcagaagcatctcGaatttttttcgaaaaagtat	6	7	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:223176847G>T	ENST00000284476.6	+	8	2272	c.2108G>T	c.(2107-2109)cGa>cTa	p.R703L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	703					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GAAGCATCTCGAATTTTTTTC	0.418													False	0	False	1:223176847	0	T	223176847	G	T	223176847	3	4	80	1	0	0	0	0	1	0	0	0	4569	1058	37	3	2134	3	DISP1	1	223176847	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	6681551	223176847	26073774	16	6904											
TTC13	79573	broad.mit.edu	37	chr1	231044752	231044752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagtgctcccacgatgaccGagtaagcaattacactattt	7	11	1	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:231044752G>A	ENST00000366661.4	-	21	2331	c.2324C>T	c.(2323-2325)tCg>tTg	p.S775L	TTC13_ENST00000366662.4_Missense_Mutation_p.S721L|TTC13_ENST00000414259.1_Missense_Mutation_p.S722L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	775							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CACGATGACCGAGTAAGCAAT	0.423													False	0	False	1:231044752	0	A	231044752	G	A	231044752	3	1	80	1	0	0	0	0	1	0	0	0	16764	1059	37	1	270	1	TTC13	1	231044752	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	7867905	231044752	18205869	17	6905											
OR2M5	127059	broad.mit.edu	37	chr1	248309316	248309316	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccatgctgaatcccctcatCtacagcctccgcaacaagga	6	17	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr1:248309316C>A	ENST00000366476.1	+	1	867	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	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)			ATCCCCTCATCTACAGCCTCC	0.493													False	0	False	1:248309316	0	A	248309316	C	A	248309316	2	1	80	1	0	0	0	0	0	0	0	1	11081	903	32	3		3	OR2M5	1	248309316	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	17264564	248309316	941305	18	6906											
CD207	50489	broad.mit.edu	37	chr2	71060828	71060828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagctgccctggagtgcccGgatctttgtatttaaagcac	10	11	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:71060828G>A	ENST00000410009.3	-	3	559	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	172					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TGGAGTGCCCGGATCTTTGTA	0.428													False	0	True	2:71060828	0	A	71060828	G	A	71060828	3	1	80	1	0	0	0	0	1	0	0	0	3006	1115	39	1	488	1	CD207	2	71060828	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08		71060828	172138545	19	6907											
CXCR4	0	broad.mit.edu	37	chr2	136873279	136873279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcagcctgtacttgtcCgtcatgcttctcagtttctt	9	11	3	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:136873279C>T	ENST00000409817.1	-	1	534	c.231G>A	c.(229-231)acG>acA	p.T77T	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Silent_p.T73T	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	73					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	p.T77T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TGTACTTGTCCGTCATGCTTC	0.517													False	0	False	2:136873279	0	T	136873279	C	T	136873279	2	4	80	1	0	0	0	0	0	0	0	1	4118	639	23	1		1	CXCR4	2	136873279	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	65812451	136873279	106326094	20	6908											
NEB	4703	broad.mit.edu	37	chr2	152466350	152466350	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtcataggcctttttTgcttggataatgtcgttttg	11	6	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:152466350T>C	ENST00000397345.3	-	81	12505	c.12303A>G	c.(12301-12303)gcA>gcG	p.A4101A	NEB_ENST00000409198.1_Silent_p.A3858A|NEB_ENST00000172853.10_Silent_p.A3858A|NEB_ENST00000604864.1_Silent_p.A4101A|NEB_ENST00000427231.2_Silent_p.A4101A|NEB_ENST00000603639.1_Silent_p.A4101A	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	4100					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGCCTTTTTTGCTTGGATAA	0.448													False	0	True	2:152466350	0	C	152466350	T	C	152466350	2	2	80	1	0	0	0	0	0	0	0	1	10370	1799	63	4		4	NEB	2	152466350	Silent	SNP	T	TCGA-HZ-A8P0-01A-11D-A36O-08	15593071	152466350	90733023	21	6909											
SCN1A	6323	broad.mit.edu	37	chr2	166911170	166911170	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaatgtaatgacagtgaaatCgagccagttccatggatccc	9	9	0	2	rs121917935		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:166911170C>A	ENST00000423058.2	-	4	597	c.580G>T	c.(580-582)Gat>Tat	p.D194Y	SCN1A_ENST00000303395.4_Missense_Mutation_p.D194Y|SCN1A_ENST00000409050.1_Missense_Mutation_p.D194Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.D194Y|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	194			D -> N (in SMEI; dbSNP:rs121917935).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACAGTGAAATCGAGCCAGTTC	0.338													False	0	False	2:166911170	0	A	166911170	C	A	166911170	3	1	80	1	0	0	0	0	1	0	0	0	13995	884	31	3	5541	3	SCN1A	2	166911170	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	14444820	166911170	76288203	22	6910											
ITGAV	3685	broad.mit.edu	37	chr2	187506230	187506230	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcttcaggagacttccagacGacaaagctgaatggatttga	11	8	1	4			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:187506230G>T	ENST00000261023.3	+	12	1348	c.1074G>T	c.(1072-1074)acG>acT	p.T358T	ITGAV_ENST00000374907.3_Silent_p.T322T|ITGAV_ENST00000433736.2_Silent_p.T312T|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	358					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACTTCCAGACGACAAAGCTGA	0.498													False	0	False	2:187506230	0	T	187506230	G	T	187506230	2	4	80	1	0	0	0	0	0	0	0	1	7938	1045	37	3		3	ITGAV	2	187506230	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	20595060	187506230	55693143	23	6911											
SPHKAP	80309	broad.mit.edu	37	chr2	228860288	228860288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggttgtcttcctcattgGcaagctgggtccagctgcct	12	12	2	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:228860288G>A	ENST00000392056.3	-	8	4617	c.4571C>T	c.(4570-4572)gCc>gTc	p.A1524V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1524V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1524						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCCTCATTGGCAAGCTGGGT	0.572													False	0	False	2:228860288	0	A	228860288	G	A	228860288	3	1	80	1	0	0	0	0	1	0	0	0	15130	1203	42	2	551	2	SPHKAP	2	228860288	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	41354058	228860288	14339085	24	6912											
SP140	11262	broad.mit.edu	37	chr2	231112711	231112712	+	In_Frame_Ins	INS	-	-	TCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT													acagggagaggaggaaggcaINSggaacagtcccagaaaaaga							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr2:231112711_231112712insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	ENST00000343805.6	+	7	845_846	c.745_746insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	c.(745-747)agg>aTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGTgg	p.249_249R>ISESVCNFHIISLD*W	SP140_ENST00000392045.3_In_Frame_Ins_p.275_275R>ISESVCNFHIISLD*W|SP140_ENST00000350136.5_Intron|SP140_ENST00000420434.3_In_Frame_Ins_p.275_275R>ISESVCNFHIISLD*W|SP140_ENST00000486687.2_Intron|SP140_ENST00000417495.3_Intron	NM_001278452.1	NP_001265381.1	Q13342	LY10_HUMAN	SP140 nuclear body protein	275					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAGGAAGGCAGGAACAGTCCC	0.48													False	0	False	2:231112711	0	TCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	231112712	-	TCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	231112711	7	5	80	1	0	1	1	0	0	0	0	0	15042	179	7	0	970	0	SP140	2	231112711	In_Frame_Ins	INS	-	TCGA-HZ-A8P0-01A-11D-A36O-08	2252423	231112711	12086662	25	6913											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	80	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-HZ-A8P0-01A-11D-A36O-08		40434705	150719571	26	6914											
GAR1	54433	broad.mit.edu	37	chr4	110740164	110740164	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgaaaataatagtatttttCagttaagttgtcagaaaaca	6	3	2	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:110740164C>A	ENST00000226796.6	+	4	641	c.377C>A	c.(376-378)tCa>tAa	p.S126*	GAR1_ENST00000394631.3_Nonsense_Mutation_p.S126*	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	126					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TAGTATTTTTCAGTTAAGTTG	0.299													False	0	True	4:110740164	0	A	110740164	C	A	110740164	4	1	80	1	0	0	0	0	0	1	0	0	6283	838	29	3	387	3	GAR1	4	110740164	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	70305459	110740164	80414112	27	6915											
PLRG1	5356	broad.mit.edu	37	chr4	155458483	155458483	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatggttttatcagcttcAgctgttagtaatcgactttc	7	7	2	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:155458483A>C	ENST00000499023.2	-	14	1566	c.1440T>G	c.(1438-1440)gcT>gcG	p.A480A	PLRG1_ENST00000302078.5_Silent_p.A471A|PLRG1_ENST00000393905.2_Silent_p.A480A	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	480						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TATCAGCTTCAGCTGTTAGTA	0.408													False	0	True	4:155458483	0	C	155458483	A	C	155458483	2	2	80	1	0	0	0	0	0	0	0	1	12175	175	7	4		4	PLRG1	4	155458483	Silent	SNP	A	TCGA-HZ-A8P0-01A-11D-A36O-08	44718319	155458483	35695793	28	6916											
SORBS2	8470	broad.mit.edu	37	chr4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggatgctgttgtccgGcaagctcccccttttctttt	10	12	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:186544317G>A	ENST00000431808.1	-	14	2817	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522													False	0	False	4:186544317	0	A	186544317	G	A	186544317	3	1	80	1	0	0	0	0	1	0	0	0	15008	1203	42	2	1084	2	SORBS2	4	186544317	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	31085834	186544317	4609959	29	6917											
SORBS2	8470	broad.mit.edu	37	chr4	186544436	186544436	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagtctgtttcttaggagccGaattttttttcctccggaaa	8	9	2	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr4:186544436G>T	ENST00000431808.1	-	14	2698	c.2135C>A	c.(2134-2136)tCg>tAg	p.S712*	SORBS2_ENST00000355634.5_Nonsense_Mutation_p.S812*|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Nonsense_Mutation_p.S616*|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_Nonsense_Mutation_p.S712*|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	712						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTTAGGAGCCGAATTTTTTTT	0.448													False	0	False	4:186544436	0	T	186544436	G	T	186544436	4	4	80	1	0	0	0	0	0	1	0	0	15008	1059	37	3	1203	3	SORBS2	4	186544436	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	119	186544436	4609840	30	6918											
ST8SIA4	7903	broad.mit.edu	37	chr5	100191950	100191950	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atccaaaggacactgtcattCagcatggaaagtctatgcac	8	10	3	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr5:100191950C>A	ENST00000231461.5	-	4	964	c.654G>T	c.(652-654)ctG>ctT	p.L218L		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	218					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CACTGTCATTCAGCATGGAAA	0.398													False	0	False	5:100191950	0	A	100191950	C	A	100191950	2	1	80	1	0	0	0	0	0	0	0	1	15316	813	29	3		3	ST8SIA4	5	100191950	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08		100191950	80723310	31	6919											
PCDHB8	0	broad.mit.edu	37	chr5	140559512	140559512	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcaccgccaggctgctgagcGagcgcgacgcggccaagcag	16	15	0	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr5:140559512G>T	ENST00000239444.2	+	1	2142	c.1897G>T	c.(1897-1899)Gag>Tag	p.E633*		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		633	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTGAGCGAGCGCGACGC	0.692													False	0	True	5:140559512	0	T	140559512	G	T	140559512	4	4	80	1	0	0	0	0	0	1	0	0	11616	1059	37	3	1899	3	PCDHB8	5	140559512	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	40367562	140559512	40355748	32	6920											
FAT2	2196	broad.mit.edu	37	chr5	150947407	150947407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actctgtaaacagccttctcGaatttgagggaagacagttt	9	8	2	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr5:150947407G>T	ENST00000261800.5	-	1	1098	c.1086C>A	c.(1084-1086)ttC>ttA	p.F362L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	362					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCTTCTCGAATTTGAGGG	0.547													False	0	False	5:150947407	0	T	150947407	G	T	150947407	3	4	80	1	0	0	0	0	1	0	0	0	5730	1049	37	3	12055	3	FAT2	5	150947407	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	10387895	150947407	29967853	33	6921											
BRD2	6046	broad.mit.edu	37	chr6	32945220	32945220	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgcctccttctgcagcGgaagatggagaaccgtgatt	12	10	1	3			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:32945220G>A	ENST00000395289.2	+	8	2803	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	BRD2_ENST00000395287.1_Splice_Site_p.R401Q|BRD2_ENST00000374831.4_Splice_Site_p.R401Q|BRD2_ENST00000374825.4_Splice_Site_p.R401Q|BRD2_ENST00000443797.2_Splice_Site_p.R281Q|BRD2_ENST00000449085.2_Splice_Site_p.R354Q			P25440	BRD2_HUMAN	bromodomain containing 2	401	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTTCTGCAGCGGAAGATGGAG	0.527													False	0	False	6:32945220	0	A	32945220	G	A	32945220	5	1	80	1	0	0	0	0	0	0	1	0	1509	1130	39	1	1228	1	BRD2	6	32945220	Splice_Site	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08		32945220	138169847	34	6922											
KLHL31	401265	broad.mit.edu	37	chr6	53519025	53519025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttttggctggcatttccGtaagcttgctccatccattt	7	11	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:53519025G>A	ENST00000370905.3	-	2	1186	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	KLHL31_ENST00000407079.1_Missense_Mutation_p.T349M	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGGCATTTCCGTAAGCTTGCT	0.483													False	0	False	6:53519025	0	A	53519025	G	A	53519025	3	1	80	1	0	0	0	0	1	0	0	0	8435	1145	40	1	866	1	KLHL31	6	53519025	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	20573805	53519025	117596042	35	6923											
PTPRK	5796	broad.mit.edu	37	chr6	128294292	128294292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagaacatgccacttcgccCgccaccatttctgaaagcaa	6	15	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:128294292C>A	ENST00000368227.3	-	30	4561	c.4195G>T	c.(4195-4197)Ggg>Tgg	p.G1399W	PTPRK_ENST00000368207.3_Missense_Mutation_p.G1414W|PTPRK_ENST00000368215.3_Missense_Mutation_p.G1381W|PTPRK_ENST00000368210.3_Missense_Mutation_p.G1400W|PTPRK_ENST00000368226.4_Missense_Mutation_p.G1382W|PTPRK_ENST00000532331.1_Missense_Mutation_p.G1404W|PTPRK_ENST00000368213.5_Missense_Mutation_p.G1388W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1381	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCACTTCGCCCGCCACCATTT	0.428													False	0	True	6:128294292	0	A	128294292	C	A	128294292	3	1	80	1	0	0	0	0	1	0	0	0	12884	652	23	3	186	3	PTPRK	6	128294292	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	74775267	128294292	42820775	36	6924											
TNFAIP3	7128	broad.mit.edu	37	chr6	138199962	138199962	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggggggcctcattcggcCccaccgacagcacccagccc	11	19	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr6:138199962C>T	ENST00000237289.4	+	7	1446	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	460	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.P450fs*21(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTCATTCGGCCCCACCGACAG	0.642			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								False	0	True	6:138199962	0	T	138199962	C	T	138199962	2	4	80	1	0	0	0	0	0	0	0	1	16356	610	22	2		2	TNFAIP3	6	138199962	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	9905670	138199962	32915105	37	6925											
TNS3	64759	broad.mit.edu	37	chr7	47407972	47407972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagctcaccttgccgcccGgtggccctgctggggccctc	12	20	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:47407972G>A	ENST00000398879.1	-	17	2637	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	TNS3_ENST00000311160.9_Silent_p.T757T|TNS3_ENST00000355730.3_Silent_p.T517T			Q68CZ2	TENS3_HUMAN	tensin 3	757						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTGCCGCCCGGTGGCCCTGC	0.632													False	0	True	7:47407972	0	A	47407972	G	A	47407972	2	1	80	1	0	0	0	0	0	0	0	1	16426	1103	39	1		1	TNS3	7	47407972	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08		47407972	111730691	38	6926											
MGAM	8972	broad.mit.edu	37	chr7	141766505	141766505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagggcgtcactgttgtgCggcctctgctccatgagtga	15	11	2	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr7:141766505C>T	ENST00000475668.2	+	41	4957	c.4903C>T	c.(4903-4905)Cgg>Tgg	p.R1635W	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1635	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.483													False	0	False	7:141766505	0	T	141766505	C	T	141766505	3	4	80	1	0	0	0	0	1	0	0	0	9608	783	27	1		1	MGAM	7	141766505	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	94358533	141766505	17372158	39	6927											
ZDHHC2	51201	broad.mit.edu	37	chr8	17067927	17067927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctcctttccaacttgCcttgttaaccaggatcctga	8	13	0	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:17067927C>T	ENST00000262096.8	+	10	1583	c.888C>T	c.(886-888)tgC>tgT	p.C296C		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	296						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TTCCAACTTGCCTTGTTAACC	0.368													False	0	False	8:17067927	0	T	17067927	C	T	17067927	2	4	80	1	0	0	0	0	0	0	0	1	17693	747	26	2		2	ZDHHC2	8	17067927	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08		17067927	129296095	40	6928											
RIMS2	9699	broad.mit.edu	37	chr8	105026833	105026833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttccaccaaagggaacGttggatagaagtaagtttta	10	7	0	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:105026833G>A	ENST00000507740.1	+	17	3002	c.2766G>A	c.(2764-2766)acG>acA	p.T922T	RIMS2_ENST00000436393.2_Silent_p.T848T|RIMS2_ENST00000262231.10_Silent_p.T947T|RIMS2_ENST00000406091.3_Silent_p.T1108T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1170					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAAGGGAACGTTGGATAGAA	0.438										HNSCC(12;0.0054)			False	0	False	8:105026833	0	A	105026833	G	A	105026833	2	1	80	1	0	0	0	0	0	0	0	1	13447	1132	40	1		1	RIMS2	8	105026833	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	87958906	105026833	41337189	41	6929											
FAM83H	286077	broad.mit.edu	37	chr8	144812372	144812372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtcggggggcggtggCtgcaccaaggtggtcacctc	19	11	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:144812372C>T	ENST00000388913.3	-	2	506	c.381G>A	c.(379-381)caG>caA	p.Q127Q		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	127					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGGCGGTGGCTGCACCAAGG	0.642													False	0	False	8:144812372	0	T	144812372	C	T	144812372	2	4	80	1	0	0	0	0	0	0	0	1	5680	796	28	2		2	FAM83H	8	144812372	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	39785539	144812372	1551650	42	6930											
ZNF7	7553	broad.mit.edu	37	chr8	146067242	146067242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatggagagaagccgtaCgaatgtgcagagtgtgggaa	16	6	0	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr8:146067242C>T	ENST00000528372.1	+	5	990	c.750C>T	c.(748-750)taC>taT	p.Y250Y	ZNF7_ENST00000325241.6_Silent_p.Y250Y|ZNF7_ENST00000446747.2_Silent_p.Y261Y|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000529819.1_3'UTR|ZNF7_ENST00000544249.1_Silent_p.Y154Y|ZNF7_ENST00000525266.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	250					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AGAAGCCGTACGAATGTGCAG	0.438													False	0	False	8:146067242	0	T	146067242	C	T	146067242	2	4	80	1	0	0	0	0	0	0	0	1	18185	547	19	1		1	ZNF7	8	146067242	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	1254870	146067242	296780	43	6931											
FOXD4	2298	broad.mit.edu	37	chr9	117739	117739	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgaaggcgcagatgccgctGagcgtgaggcgcttgtgcgg	18	9	0	4			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:117739G>T	ENST00000382500.2	-	1	678	c.381C>A	c.(379-381)ctC>ctA	p.L127L		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	127					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGATGCCGCTGAGCGTGAGGC	0.637													False	0	False	9:117739	0	T	117739	G	T	117739	2	4	80	1	0	0	0	0	0	0	0	1	6039	1277	45	3		3	FOXD4	9	117739	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08		117739	141095692	44	6932											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	10	17	2	1	rs121913387		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21971186	0	A	21971186	G	A	21971186	4	1	80	1	0	0	0	0	0	1	0	0	3184	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	21853447	21971186	119242245	45	6933											
SPTLC1	10558	broad.mit.edu	37	chr9	94812277	94812277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtgactcctcggccatGctctcctaggactccaaatg	8	14	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:94812277G>T	ENST00000262554.2	-	9	858	c.853C>A	c.(853-855)Cat>Aat	p.H285N		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	285						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCTCGGCCATGCTCTCCTAGG	0.383													False	0	False	9:94812277	0	T	94812277	G	T	94812277	3	4	80	1	0	0	0	0	1	0	0	0	15205	1319	46	3	596	3	SPTLC1	9	94812277	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	72841091	94812277	46401154	46	6934											
TNC	3371	broad.mit.edu	37	chr9	117846677	117846677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaggtactctgtgacccGcatctcattgtcccaggcca	9	14	2	1	rs149181557	by1000genomes	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:117846677G>A	ENST00000350763.4	-	4	2353	c.1942C>T	c.(1942-1944)Cgg>Tgg	p.R648W	TNC_ENST00000423613.2_Missense_Mutation_p.R648W|TNC_ENST00000542877.1_Missense_Mutation_p.R648W|TNC_ENST00000345230.3_Missense_Mutation_p.R648W|TNC_ENST00000535648.1_Missense_Mutation_p.R648W|TNC_ENST00000537320.1_Missense_Mutation_p.R648W|TNC_ENST00000341037.4_Missense_Mutation_p.R648W|TNC_ENST00000340094.3_Missense_Mutation_p.R648W|TNC_ENST00000346706.3_Missense_Mutation_p.R648W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	648	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCTGTGACCCGCATCTCATTG	0.562													False	0	True	9:117846677	0	A	117846677	G	A	117846677	3	1	80	1	0	0	0	0	1	0	0	0	16352	1086	38	1	4763	1	TNC	9	117846677	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	23034400	117846677	23366754	47	6935											
OR1J2	26740	broad.mit.edu	37	chr9	125273336	125273336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaagatgctgatggacatgCggactaagtacaaatcgatc	10	8	0	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:125273336C>T	ENST00000335302.5	+	1	256	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GATGGACATGCGGACTAAGTA	0.428													False	0	False	9:125273336	0	T	125273336	C	T	125273336	3	4	80	1	0	0	0	0	1	0	0	0	11028	759	27	1	258	1	OR1J2	9	125273336	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	7426659	125273336	15940095	48	6936											
USP20	0	broad.mit.edu	37	chr9	132623286	132623286	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatgaaggagagtctgagtCagaggacgatgacctgaaac	14	6	2	7			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:132623286C>A	ENST00000315480.4	+	7	559	c.401C>A	c.(400-402)tCa>tAa	p.S134*	USP20_ENST00000358355.1_Nonsense_Mutation_p.S134*|USP20_ENST00000372429.3_Nonsense_Mutation_p.S134*			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	134					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GAGTCTGAGTCAGAGGACGAT	0.577													False	0	False	9:132623286	0	A	132623286	C	A	132623286	4	1	80	1	0	0	0	0	0	1	0	0	17136	838	29	3	419	3	USP20	9	132623286	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	7349950	132623286	8590145	49	6937											
CACNA1B	774	broad.mit.edu	37	chr9	140968501	140968501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgctgttcttcatctacGccatcatcggcatgcaggtg	9	13	4	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr9:140968501G>A	ENST00000277549.5	+	34	4991	c.2422G>A	c.(2422-2424)Gcc>Acc	p.A808T	CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1614T|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1614T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1612T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1615T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1613T			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1614					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.A1614S(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTTCATCTACGCCATCATCGG	0.622													False	0	False	9:140968501	0	A	140968501	G	A	140968501	3	1	80	1	0	0	0	0	1	0	0	0	2559	1087	38	1	4970	1	CACNA1B	9	140968501	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	8345215	140968501	244930	50	6938											
PRTFDC1	56952	broad.mit.edu	37	chr10	25226219	25226219	+	Frame_Shift_Del	DEL	C	C	-													gatcagcacagaatttgtaaCctcctttaagcacacacagg							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:25226219delC	ENST00000320152.6	-	3	261	c.233delG	c.(232-234)ggtfs	p.G78fs	PRTFDC1_ENST00000376378.1_Frame_Shift_Del_p.G78fs|PRTFDC1_ENST00000376376.3_Frame_Shift_Del_p.G78fs	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	78					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						GAATTTGTAACCTCCTTTAAG	0.378													False	2	False	10:25226219	0	-	25226219	C	-	25226219	7	5	80	1	0	1	0	1	0	0	0	0	12713	507	18	0	472	0	PRTFDC1	10	25226219	Frame_Shift_Del	DEL	C	TCGA-HZ-A8P0-01A-11D-A36O-08		25226219	110308528	51	6939											
ARHGAP22	58504	broad.mit.edu	37	chr10	49667870	49667870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgctccaccagcaggggCgccaggcgggggccatactt	14	15	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:49667870C>T	ENST00000249601.4	-	5	812	c.516G>A	c.(514-516)gcG>gcA	p.A172A	ARHGAP22_ENST00000417912.2_Silent_p.A188A|ARHGAP22_ENST00000435790.2_Silent_p.A178A|ARHGAP22_ENST00000374172.1_Silent_p.A63A|ARHGAP22_ENST00000374170.1_Silent_p.A82A|ARHGAP22_ENST00000417247.2_Silent_p.A82A	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	172	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGCAGGGGCGCCAGGCGGG	0.652													False	0	True	10:49667870	0	T	49667870	C	T	49667870	2	4	80	1	0	0	0	0	0	0	0	1	874	755	27	1		1	ARHGAP22	10	49667870	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	24441651	49667870	85866877	52	6940											
SLC18A3	6572	broad.mit.edu	37	chr10	50820227	50820227	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcctgacgcgctcccgttccGagcgcgatgtgctgcttgat	12	14	0	2	rs144340824		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:50820227G>T	ENST00000374115.3	+	1	1881	c.1441G>T	c.(1441-1443)Gag>Tag	p.E481*	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	481					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTCCCGTTCCGAGCGCGATGT	0.657													False	0	False	10:50820227	0	T	50820227	G	T	50820227	4	4	80	1	0	0	0	0	0	1	0	0	14508	1059	37	3	1443	3	SLC18A3	10	50820227	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	1152357	50820227	84714520	53	6941											
WAPAL	23063	broad.mit.edu	37	chr10	88260206	88260206	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgatttttaaaatcgtcaTccttcatctccaaaagggga	6	9	3	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr10:88260206T>G	ENST00000298767.5	-	3	1266	c.794A>C	c.(793-795)gAt>gCt	p.D265A		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	265	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AAAATCGTCATCCTTCATCTC	0.363													False	0	False	10:88260206	0	G	88260206	T	G	88260206	3	3	80	1	0	0	0	0	1	0	0	0	17332	1435	50	4	2846	4	WAPAL	10	88260206	Missense_Mutation	SNP	T	TCGA-HZ-A8P0-01A-11D-A36O-08	37439979	88260206	47274541	54	6942											
MUC6	4588	broad.mit.edu	37	chr11	1025891	1025892	+	Frame_Shift_Ins	INS	-	-	T													aggatcttgaaggtgggctgINStgagtcgttgacaccacaga							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:1025891_1025892insT	ENST00000421673.2	-	22	2762_2763	c.2712_2713insA	c.(2710-2715)tcacagfs	p.Q905fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	905	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGTGGGCTGTGAGTCGTTGA	0.658													False	1	False	11:1025891	0	T	1025892	-	T	1025891	7	5	80	1	0	1	1	0	0	0	0	0	10047	1386	48	0	4654	0	MUC6	11	1025891	Frame_Shift_Ins	INS	-	TCGA-HZ-A8P0-01A-11D-A36O-08		1025891	133980625	55	6943											
OR5A1	219982	broad.mit.edu	37	chr11	59211572	59211572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaaggtgttggaaaggAagaaagtgttttcttaggtc	15	2	1	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:59211572A>G	ENST00000302030.2	+	1	956	c.931A>G	c.(931-933)Aag>Gag	p.K311E		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTTGGAAAGGAAGAAAGTGTT	0.438													False	0	False	11:59211572	0	G	59211572	A	G	59211572	3	3	80	1	0	0	0	0	1	0	0	0	11207	247	9	4	933	4	OR5A1	11	59211572	Missense_Mutation	SNP	A	TCGA-HZ-A8P0-01A-11D-A36O-08	58185681	59211572	75794944	56	6944											
MS4A3	932	broad.mit.edu	37	chr11	59837071	59837071	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggtgtctctactgctgattCtcaccttgctggaattatgc	9	10	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:59837071C>T	ENST00000278865.3	+	6	611	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	MS4A3_ENST00000395032.2_Missense_Mutation_p.L57F|MS4A3_ENST00000358152.2_Missense_Mutation_p.L134F|MS4A3_ENST00000534744.1_Missense_Mutation_p.L134F	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	180						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				ACTGCTGATTCTCACCTTGCT	0.413													False	0	False	11:59837071	0	T	59837071	C	T	59837071	3	4	80	1	0	0	0	0	1	0	0	0	9928	913	32	2	556	2	MS4A3	11	59837071	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	625499	59837071	75169445	57	6945											
BEST1	7439	broad.mit.edu	37	chr11	61730184	61730184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaattgctctcagagagcGatggggccttgatggagcac	14	8	1	3	rs61747600		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:61730184G>A	ENST00000449131.2	+	9	1464	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N	FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378043.4_Missense_Mutation_p.D520N|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000301774.9_Missense_Mutation_p.D148N|BEST1_ENST00000378042.3_Missense_Mutation_p.D433N	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	520					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTCAGAGAGCGATGGGGCCTT	0.468													False	0	False	11:61730184	0	A	61730184	G	A	61730184	3	1	80	1	0	0	0	0	1	0	0	0	1408	1058	37	1	1592	1	BEST1	11	61730184	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	1893113	61730184	73276332	58	6946											
FOLH1B	219595	broad.mit.edu	37	chr11	89405142	89405142	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgttgttcatgaaaCtgtgaggagctttggaacac	12	7	1	2	rs3018757	by1000genomes	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:89405142C>T	ENST00000532352.1	+	0	1082							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTCATGAAACTGTGAGGAGC	0.433													False	0	True	11:89405142	0	T	89405142	C	T	89405142	1	4	80	0	1	0	0	0	0	0	0	0	6020	565	20	2		2	FOLH1B	11	89405142	RNA	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	27674958	89405142	45601374	59	6947											
KDELC2	143888	broad.mit.edu	37	chr11	108356954	108356954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatttccctaaagatctcCggtaaacatggttattgaga	8	7	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:108356954C>T	ENST00000434945.2	-	2	748	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000375648.1_Missense_Mutation_p.R149Q|KDELC2_ENST00000323468.5_Missense_Mutation_p.R205Q			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	205						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TAAAGATCTCCGGTAAACATG	0.378													False	0	False	11:108356954	0	T	108356954	C	T	108356954	3	4	80	1	0	0	0	0	1	0	0	0	8168	652	23	1	933	1	KDELC2	11	108356954	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	18951812	108356954	26649562	60	6948											
APOA4	337	broad.mit.edu	37	chr11	116692155	116692155	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcaatcttgactttgaattCgtcagcgtagggcgtaaggc	12	8	3	2	rs145184607		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:116692155C>A	ENST00000357780.3	-	3	733	c.619G>T	c.(619-621)Gaa>Taa	p.E207*		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ACTTTGAATTCGTCAGCGTAG	0.622													False	0	False	11:116692155	0	A	116692155	C	A	116692155	4	1	80	1	0	0	0	0	0	1	0	0	785	893	31	3	575	3	APOA4	11	116692155	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	8335201	116692155	18314361	61	6949											
DSCAML1	57453	broad.mit.edu	37	chr11	117387332	117387332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcggtggttgtctggcaGcagcagggcatccttgtacc	15	11	1	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:117387332G>A	ENST00000321322.6	-	8	1814	c.1813C>T	c.(1813-1815)Ctg>Ttg	p.L605L	DSCAML1_ENST00000527706.1_Silent_p.L335L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	545	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTGTCTGGCAGCAGCAGGGCA	0.582													False	0	True	11:117387332	0	A	117387332	G	A	117387332	2	1	80	1	0	0	0	0	0	0	0	1	4799	962	34	2		2	DSCAML1	11	117387332	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	695177	117387332	17619184	62	6950											
HYOU1	10525	broad.mit.edu	37	chr11	118919004	118919004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctccagccaggtggatgCggcgctgagcttcccagaga	13	13	0	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr11:118919004C>T	ENST00000404233.3	-	20	2456	c.2332G>A	c.(2332-2334)Gca>Aca	p.A778T	HYOU1_ENST00000529972.1_Missense_Mutation_p.A716T|HYOU1_ENST00000525859.1_Missense_Mutation_p.A716T	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	778						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CAGGTGGATGCGGCGCTGAGC	0.617													False	0	False	11:118919004	0	T	118919004	C	T	118919004	3	4	80	1	0	0	0	0	1	0	0	0	7520	768	27	1	695	1	HYOU1	11	118919004	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	1531672	118919004	16087512	63	6951											
TAS2R20	259295	broad.mit.edu	37	chr12	11149731	11149731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatcttaaaattccaaaaCgatatgattagacacagaaa	5	8	1	3			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:11149731C>T	ENST00000538986.1	-	1	743	c.744G>A	c.(742-744)tcG>tcA	p.S248S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	248					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AATTCCAAAACGATATGATTA	0.378													False	0	True	12:11149731	0	T	11149731	C	T	11149731	2	4	80	1	0	0	0	0	0	0	0	1	15653	523	19	1		1	TAS2R20	12	11149731	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08		11149731	122702164	64	6952											
KRAS	3845	broad.mit.edu	37	chr12	25380275	25380275	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgcactgtactcctcTtgacctgctgtgtcgagaat	8	12	2	2	rs17851045		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:25380275T>A	ENST00000311936.3	-	3	374	c.183A>T	c.(181-183)caA>caT	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25380275	0	A	25380275	T	A	25380275	3	1	80	1	0	0	0	0	1	0	0	0	8488	1606	56	5	519	5	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-HZ-A8P0-01A-11D-A36O-08	14230544	25380275	108471620	65	6953											
ESPL1	9700	broad.mit.edu	37	chr12	53681786	53681786	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgatgacagtgacttggaaGaccctgtctcagctgaggcc	13	10	1	5			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:53681786G>A	ENST00000257934.4	+	19	4298	c.4207G>A	c.(4207-4209)Gac>Aac	p.D1403N	ESPL1_ENST00000552462.1_Missense_Mutation_p.D1403N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1403					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGACTTGGAAGACCCTGTCTC	0.582											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:53681786	0	A	53681786	G	A	53681786	3	1	80	1	0	0	0	0	1	0	0	0	5285	942	33	2	4277	2	ESPL1	12	53681786	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	28301511	53681786	80170109	66	6954											
ATP5B	506	broad.mit.edu	37	chr12	57037629	57037629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaataacataccaattttgCcacccttggcatagggagct	7	10	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:57037629C>T	ENST00000262030.3	-	4	649	c.599G>A	c.(598-600)gGc>gAc	p.G200D	ATP5B_ENST00000552919.1_Missense_Mutation_p.G200D	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	200					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCAATTTTGCCACCCTTGGC	0.418													False	0	False	12:57037629	0	T	57037629	C	T	57037629	3	4	80	1	0	0	0	0	1	0	0	0	1152	739	26	2	1018	2	ATP5B	12	57037629	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	3355843	57037629	76814266	67	6955											
STAB2	55576	broad.mit.edu	37	chr12	104147083	104147083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagagaggcctgtgccaaCgaagctgcgaccatggcaac	13	13	0	1	rs139125034		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:104147083C>T	ENST00000388887.2	+	61	6870	c.6666C>T	c.(6664-6666)aaC>aaT	p.N2222N	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2222	Link.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGTGCCAACGAAGCTGCGA	0.552													False	0	False	12:104147083	0	T	104147083	C	T	104147083	2	4	80	1	0	0	0	0	0	0	0	1	15320	535	19	1		1	STAB2	12	104147083	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	47109454	104147083	29704812	68	6956											
NAA25	80018	broad.mit.edu	37	chr12	112516479	112516479	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcctctttcaccattttttCgaccattctctcagcaaggg	6	13	4	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr12:112516479C>A	ENST00000261745.4	-	6	792	c.544G>T	c.(544-546)Gaa>Taa	p.E182*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	182						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACCATTTTTTCGACCATTCTC	0.348													False	0	True	12:112516479	0	A	112516479	C	A	112516479	4	1	80	1	0	0	0	0	0	1	0	0	10188	893	31	3	2450	3	NAA25	12	112516479	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	8369396	112516479	21335416	69	6957											
POTEG	404785	broad.mit.edu	37	chr14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagccgaggtaccacgtccGtcgagaagatctggacaagc	14	11	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:19553823G>A	ENST00000409832.3	+	1	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	136								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577													False	0	True	14:19553823	0	A	19553823	G	A	19553823	3	1	80	1	0	0	0	0	1	0	0	0	12335	1145	40	1	409	1	POTEG	14	19553823	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08		19553823	87795717	70	6958											
ZNF219	0	broad.mit.edu	37	chr14	21561128	21561128	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcaggactacgtgggcgctCgggctggtgtgtgcgcaggt	19	9	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:21561128C>A	ENST00000360947.3	-	3	739	c.328G>T	c.(328-330)Gag>Tag	p.E110*	ZNF219_ENST00000421093.2_Nonsense_Mutation_p.E110*|ZNF219_ENST00000451119.2_Nonsense_Mutation_p.E110*	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	110					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGTGGGCGCTCGGGCTGGTGT	0.721											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	14:21561128	0	A	21561128	C	A	21561128	4	1	80	1	0	0	0	0	0	1	0	0	17856	893	31	3	1852	3	ZNF219	14	21561128	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	2007305	21561128	85788412	71	6959											
NPAS3	64067	broad.mit.edu	37	chr14	34269465	34269465	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcaagatcaagacggAgatctcagaacccatcaatt	9	10	4	4			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:34269465A>T	ENST00000346562.2	+	11	1930	c.1856A>T	c.(1855-1857)gAg>gTg	p.E619V	NPAS3_ENST00000357798.5_Missense_Mutation_p.E638V|NPAS3_ENST00000548645.1_Missense_Mutation_p.E621V|NPAS3_ENST00000551492.1_Missense_Mutation_p.E656V|NPAS3_ENST00000356141.4_Missense_Mutation_p.E651V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATCAAGACGGAGATCTCAGAA	0.627													False	0	False	14:34269465	0	T	34269465	A	T	34269465	3	4	80	1	0	0	0	0	1	0	0	0	10632	304	11	5	2053	5	NPAS3	14	34269465	Missense_Mutation	SNP	A	TCGA-HZ-A8P0-01A-11D-A36O-08	12708337	34269465	73080075	72	6960											
BTBD7	55727	broad.mit.edu	37	chr14	93761248	93761248	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaggctatacaactttgattCgcaaccatagccttgctgag	8	10	0	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:93761248C>A	ENST00000334746.5	-	3	425	c.118G>T	c.(118-120)Gaa>Taa	p.E40*	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Nonsense_Mutation_p.E40*|BTBD7_ENST00000298896.3_Nonsense_Mutation_p.E40*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	40										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AACTTTGATTCGCAACCATAG	0.348													False	0	False	14:93761248	0	A	93761248	C	A	93761248	4	1	80	1	0	0	0	0	0	1	0	0	1553	893	31	3	3391	3	BTBD7	14	93761248	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	59491783	93761248	13588292	73	6961											
DICER1	23405	broad.mit.edu	37	chr14	95590833	95590833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgagaagtgctcttcaCatagtgcatgtattttcctt	9	8	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr14:95590833C>T	ENST00000526495.1	-	10	1367	c.1076G>A	c.(1075-1077)tGt>tAt	p.C359Y	DICER1_ENST00000343455.3_Missense_Mutation_p.C359Y|DICER1_ENST00000393063.1_Missense_Mutation_p.C359Y|DICER1_ENST00000541352.1_Missense_Mutation_p.C359Y|DICER1_ENST00000527414.1_Missense_Mutation_p.C359Y			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	359	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTGCTCTTCACATAGTGCATG	0.373			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				False	0	False	14:95590833	0	T	95590833	C	T	95590833	3	4	80	1	0	0	0	0	1	0	0	0	4551	478	17	2	4772	2	DICER1	14	95590833	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	1829585	95590833	11758707	74	6962											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499545	59499545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagattactttgtcacaGcaaactccaacctagtgatt	6	10	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:59499545G>A	ENST00000307144.4	+	1	504	c.406G>A	c.(406-408)Gca>Aca	p.A136T	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	136					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	CTTTGTCACAGCAAACTCCAA	0.428													False	0	False	15:59499545	0	A	59499545	G	A	59499545	3	1	80	1	0	0	0	0	1	0	0	0	8751	971	34	2	408	2	LDHAL6B	15	59499545	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08		59499545	43031847	75	6963											
ANKDD1A	348094	broad.mit.edu	37	chr15	65219105	65219105	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tctcctcccggccagctgggGaggacggcgtttcacagggc	15	14	2	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:65219105G>C	ENST00000380230.3	+	6	506	c.477G>C	c.(475-477)ggG>ggC	p.G159G	ANKDD1A_ENST00000496660.1_Silent_p.G68G|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000395723.1_Silent_p.G68G|ANKDD1A_ENST00000319580.8_3'UTR|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000357698.3_Silent_p.G159G|ANKDD1A_ENST00000395720.1_Silent_p.G159G	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	159					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GCCAGCTGGGGAGGACGGCGT	0.622													False	0	True	15:65219105	0	C	65219105	G	C	65219105	2	2	80	1	0	0	0	0	0	0	0	1	624	1161	41	5		5	ANKDD1A	15	65219105	Silent	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	5719560	65219105	37312287	76	6964											
SLCO3A1	28232	broad.mit.edu	37	chr15	92690367	92690367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtgccatggcacagacaCcctcagtcatcatcctcatc	7	16	4	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr15:92690367C>T	ENST00000318445.6	+	8	1880	c.1666C>T	c.(1666-1668)Ccc>Tcc	p.P556S	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P556S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	556					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCACAGACACCCTCAGTCAT	0.582													False	0	True	15:92690367	0	T	92690367	C	T	92690367	3	4	80	1	0	0	0	0	1	0	0	0	14808	507	18	2	1696	2	SLCO3A1	15	92690367	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	27471262	92690367	9841025	77	6965											
GTF3C1	2975	broad.mit.edu	37	chr16	27481702	27481702	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgcagatggtgcttggaaatCgccacgtaaaaatcctacag	10	9	0	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:27481702C>A	ENST00000356183.4	-	31	4556	c.4541G>T	c.(4540-4542)cGa>cTa	p.R1514L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1514L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1514						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTTGGAAATCGCCACGTAAA	0.502													False	0	False	16:27481702	0	A	27481702	C	A	27481702	3	1	80	1	0	0	0	0	1	0	0	0	6919	884	31	3	1816	3	GTF3C1	16	27481702	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08		27481702	62873051	78	6966											
RNF40	9810	broad.mit.edu	37	chr16	30778186	30778186	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagaatctggcggccaAcgagcaggcgggtatgtggt	17	8	1	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:30778186A>G	ENST00000324685.6	+	11	1853	c.1418A>G	c.(1417-1419)aAc>aGc	p.N473S	RNF40_ENST00000402121.3_Missense_Mutation_p.N165S|RNF40_ENST00000357890.5_Missense_Mutation_p.N373S|RNF40_ENST00000563683.1_Missense_Mutation_p.N433S	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	473					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGGCGGCCAACGAGCAGGCG	0.602													False	0	False	16:30778186	0	G	30778186	A	G	30778186	3	3	80	1	0	0	0	0	1	0	0	0	13572	43	2	4	1456	4	RNF40	16	30778186	Missense_Mutation	SNP	A	TCGA-HZ-A8P0-01A-11D-A36O-08	3296484	30778186	59576567	79	6967											
FOXF1	2294	broad.mit.edu	37	chr16	86544628	86544628	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgaaggaaatgccaggcgctCaagcccatgtacagcatgat	11	11	1	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr16:86544628C>A	ENST00000262426.4	+	1	496	c.453C>A	c.(451-453)ctC>ctA	p.L151L		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	151					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GCCAGGCGCTCAAGCCCATGT	0.667													False	0	False	16:86544628	0	A	86544628	C	A	86544628	2	1	80	1	0	0	0	0	0	0	0	1	6047	813	29	3		3	FOXF1	16	86544628	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	55766442	86544628	3810125	80	6968											
NDEL1	81565	broad.mit.edu	37	chr17	8370257	8370257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcccacagggcagtaaaCggctttgaccccgctcctcc	9	17	0	1	rs138863036	byFrequency	TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:8370257C>T	ENST00000380025.4	+	8	960	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	NDEL1_ENST00000402554.3_3'UTR|NDEL1_ENST00000334527.7_Silent_p.N318N|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000585098.1_Intron			Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	0	Interaction with CENPF.|Interaction with DISC1.|Interaction with NEFL (By similarity).|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT1.				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						GGGCAGTAAACGGCTTTGACC	0.537													False	0	True	17:8370257	0	T	8370257	C	T	8370257	3	4	80	1	0	0	0	0	1	0	0	0	10312	535	19	1	1023	1	NDEL1	17	8370257	Missense_Mutation	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08		8370257	72824953	81	6969											
NLK	51701	broad.mit.edu	37	chr17	26495642	26495642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatctttgcagaactactaGgacgaagaatattgtttcag	9	6	2	2			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:26495642G>A	ENST00000407008.3	+	6	1724	c.1006G>A	c.(1006-1008)Gga>Aga	p.G336R		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	336	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGAACTACTAGGACGAAGAAT	0.413													False	0	False	17:26495642	0	A	26495642	G	A	26495642	3	1	80	1	0	0	0	0	1	0	0	0	10534	1001	35	2	1028	2	NLK	17	26495642	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	18125385	26495642	54699568	82	6970											
GPR179	440435	broad.mit.edu	37	chr17	36485562	36485562	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaccacatctatgggctctGattttccccgggcctcccct	8	16	2	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:36485562G>T	ENST00000342292.4	-	11	3910	c.3890C>A	c.(3889-3891)tCa>tAa	p.S1297*		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1297						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TATGGGCTCTGATTTTCCCCG	0.582													False	0	False	17:36485562	0	T	36485562	G	T	36485562	4	4	80	1	0	0	0	0	0	1	0	0	6720	1294	45	3	3217	3	GPR179	17	36485562	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	9989920	36485562	44709648	83	6971											
PTRF	284119	broad.mit.edu	37	chr17	40557270	40557270	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caacctccaccgcctcgtccGacgaaagctccagcgccgct	8	20	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr17:40557270G>T	ENST00000357037.5	-	2	1027	c.608C>A	c.(607-609)tCg>tAg	p.S203*		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	203					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CGCCTCGTCCGACGAAAGCTC	0.662													False	0	False	17:40557270	0	T	40557270	G	T	40557270	4	4	80	1	0	0	0	0	0	1	0	0	12894	1059	37	3	568	3	PTRF	17	40557270	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	4071708	40557270	40637940	84	6972											
SMAD4	4089	broad.mit.edu	37	chr18	48593491	48593494	+	Frame_Shift_Del	DEL	AGAC	AGAC	-													tttgtacagagttactacttAgacagagaagctgggcgtgc					rs80338965		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	AGAC	AGAC	-	-	AGAC	AGAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr18:48593491_48593494delAGAC	ENST00000588745.1	+	6	954_957	c.954_957delAGAC	c.(952-957)ttagacfs	p.LD318fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.LD414fs|SMAD4_ENST00000342988.3_Frame_Shift_Del_p.LD414fs			Q13485	SMAD4_HUMAN	SMAD family member 4	414	SAD.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTTACTACTTAGACAGAGAAGCTG	0.412													False	1	False	18:48593491	0	-	48593494	AGAC	-	48593491	7	5	80	1	0	1	0	1	0	0	0	0	14840	417	15	0	1276	0	SMAD4	18	48593491	Frame_Shift_Del	DEL	AGAC	TCGA-HZ-A8P0-01A-11D-A36O-08		48593491	29483757	85	6973											
STK11	6794	broad.mit.edu	37	chr19	1207092	1207092	+	Frame_Shift_Del	DEL	C	C	-													ctgctgggggaaggctcttaCggcaaggtgaaggaggtgct							TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:1207092delC	ENST00000326873.7	+	1	1353	c.180delC	c.(178-180)tacfs	p.Y60fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	60	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.Y60fs*1(3)|p.Y60*(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCTCTTACGGCAAGGTGA	0.622		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			False	1	False	19:1207092	0	-	1207092	C	-	1207092	7	5	80	1	0	1	0	1	0	0	0	0	15369	547	19	0	182	0	STK11	19	1207092	Frame_Shift_Del	DEL	C	TCGA-HZ-A8P0-01A-11D-A36O-08		1207092	57921891	86	6974											
ZNF557	79230	broad.mit.edu	37	chr19	7083689	7083689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctatgaatgtaattattgCgggaaatccttcacaagtaa	7	8	1	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:7083689C>T	ENST00000414706.1	+	8	1700	c.1227C>T	c.(1225-1227)tgC>tgT	p.C409C	ZNF557_ENST00000439035.2_Silent_p.C402C|ZNF557_ENST00000252840.6_Silent_p.C409C	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GTAATTATTGCGGGAAATCCT	0.368													False	0	True	19:7083689	0	T	7083689	C	T	7083689	2	4	80	1	0	0	0	0	0	0	0	1	18071	776	27	1		1	ZNF557	19	7083689	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	5876597	7083689	52045294	87	6975											
ZNF181	339318	broad.mit.edu	37	chr19	35232318	35232318	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacatctaagaattcatacTcaagaaaaactctatgagtg	6	7	4	3	rs2607243		TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:35232318T>G	ENST00000392232.3	+	6	1332	c.1164T>G	c.(1162-1164)acT>acG	p.T388T	ZNF181_ENST00000459757.2_Silent_p.T343T|ZNF181_ENST00000492450.1_Silent_p.T344T			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAATTCATACTCAAGAAAAAC	0.388													False	0	False	19:35232318	0	G	35232318	T	G	35232318	2	3	80	1	0	0	0	0	0	0	0	1	17832	1538	54	4		4	ZNF181	19	35232318	Silent	SNP	T	TCGA-HZ-A8P0-01A-11D-A36O-08	28148629	35232318	23896665	88	6976											
TBCB	1155	broad.mit.edu	37	chr19	36616597	36616597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaacgctacttcgaatgCcaggccaagtatggcgcctt	12	11	0	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:36616597C>T	ENST00000221855.3	+	6	1223	c.648C>T	c.(646-648)tgC>tgT	p.C216C	TBCB_ENST00000585746.1_Silent_p.C165C|TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	216	CAP-Gly.				'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding	p.C216C(1)		large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACTTCGAATGCCAGGCCAAGT	0.562													False	0	False	19:36616597	0	T	36616597	C	T	36616597	2	4	80	1	0	0	0	0	0	0	0	1	15712	747	26	2		2	TBCB	19	36616597	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	1384279	36616597	22512386	89	6977											
PLEKHG2	64857	broad.mit.edu	37	chr19	39908691	39908691	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcctgttctctcggatGctgctggtggccaagcgcag	12	13	2	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:39908691G>T	ENST00000425673.1	+	9	1354	c.1029G>T	c.(1027-1029)atG>atT	p.M343I	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.M343I|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.M284I|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.M343I|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.M343I			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	343	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTCTCGGATGCTGCTGGTGG	0.612													False	0	False	19:39908691	0	T	39908691	G	T	39908691	3	4	80	1	0	0	0	0	1	0	0	0	12138	1319	46	3	1059	3	PLEKHG2	19	39908691	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	3292094	39908691	19220292	90	6978											
MYADM	91663	broad.mit.edu	37	chr19	54377360	54377360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcatcttcgcgttcatcagcGaccccaacctgtaccagcac	6	17	4	0			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:54377360G>T	ENST00000391769.2	+	3	857	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	MYADM_ENST00000391771.1_Missense_Mutation_p.D193Y|MYADM_ENST00000336967.3_Missense_Mutation_p.D193Y|MYADM_ENST00000391770.4_Missense_Mutation_p.D193Y|MYADM_ENST00000391768.2_Missense_Mutation_p.D193Y	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	193	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTTCATCAGCGACCCCAACCT	0.642													False	0	False	19:54377360	0	T	54377360	G	T	54377360	3	4	80	1	0	0	0	0	1	0	0	0	10073	1058	37	3	579	3	MYADM	19	54377360	Missense_Mutation	SNP	G	TCGA-HZ-A8P0-01A-11D-A36O-08	14468669	54377360	4751623	91	6979											
NLRP13	126204	broad.mit.edu	37	chr19	56416346	56416346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttggggtgagtcagggcCgcacacaatagctttatgcc	12	11	1	1			TCGA-HZ-A8P0-01A-11D-A36O-08	TCGA-HZ-A8P0-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	df4c13c2-bf8e-4723-8a7c-341a512c02b7	041a6dc6-65d1-43d9-adb2-89c69d4b3e65	g.chr19:56416346C>T	ENST00000588751.1	-	8	2604	c.2580G>A	c.(2578-2580)gcG>gcA	p.A860A	NLRP13_ENST00000342929.3_Silent_p.A860A			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	860							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAGTCAGGGCCGCACACAATA	0.468													False	0	False	19:56416346	0	T	56416346	C	T	56416346	2	4	80	1	0	0	0	0	0	0	0	1	10543	639	23	1		1	NLRP13	19	56416346	Silent	SNP	C	TCGA-HZ-A8P0-01A-11D-A36O-08	2038986	56416346	2712637	92	6980											
EPHB2	2048	broad.mit.edu	37	chr1	23240039	23240039	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgcgggcgcagatgaaCcagattcagtctgtggaggt	16	7	2	4			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:23240039C>T	ENST00000400191.3	+	16	2955	c.2937C>T	c.(2935-2937)aaC>aaT	p.N979N	EPHB2_ENST00000374630.3_Silent_p.N979N|EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374632.3_Silent_p.N980N	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	979					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CGCAGATGAACCAGATTCAGT	0.587													False	0	False	1:23240039	0	T	23240039	C	T	23240039	2	4	81	1	0	0	0	0	0	0	0	1	5207	506	18	2		2	EPHB2	1	23240039	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08		23240039	226010582	1	6981											
ARID1A	8289	broad.mit.edu	37	chr1	27106178	27106178	+	Frame_Shift_Del	DEL	C	C	-													cgaggatggagctaagagttCagaggccatcaaggagagca							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:27106178delC	ENST00000457599.2	+	20	5138	c.5138delC	c.(5137-5139)tcafs	p.S1713fs	ARID1A_ENST00000540690.1_Frame_Shift_Del_p.S258fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S1547fs|ARID1A_ENST00000324856.7_Frame_Shift_Del_p.S1930fs	NM_139135.2	NP_624361.1	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1930					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTAAGAGTTCAGAGGCCATC	0.522			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								False	1	False	1:27106178	0	-	27106178	C	-	27106178	7	5	81	1	0	1	0	1	0	0	0	0	915	838	29	0	5867	0	ARID1A	1	27106178	Frame_Shift_Del	DEL	C	TCGA-HZ-A8P1-01A-11D-A377-08	3866139	27106178	222144443	2	6982											
MATN1	4146	broad.mit.edu	37	chr1	31191606	31191606	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcctcctggaacttccTggacagcttctcgatgacgc	11	13	1	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:31191606T>G	ENST00000373765.4	-	3	675	c.640A>C	c.(640-642)Agg>Cgg	p.R214R	MATN1-AS1_ENST00000414532.2_RNA|MATN1_ENST00000477320.1_5'UTR	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	214	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAACTTCCTGGACAGCTTC	0.706													False	0	False	1:31191606	0	G	31191606	T	G	31191606	2	3	81	1	0	0	0	0	0	0	0	1	9400	1579	55	4		4	MATN1	1	31191606	Silent	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	4085428	31191606	218059015	3	6983											
CYP4X1	260293	broad.mit.edu	37	chr1	47514244	47514244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctttcttagggatcacCgtggttcttagtatttgggg	11	9	3	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:47514244C>T	ENST00000371901.3	+	10	1465	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	CYP4X1_ENST00000538609.1_Silent_p.T404T	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	405						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TAGGGATCACCGTGGTTCTTA	0.423													False	0	False	1:47514244	0	T	47514244	C	T	47514244	2	4	81	1	0	0	0	0	0	0	0	1	4218	639	23	1		1	CYP4X1	1	47514244	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	16322638	47514244	201736377	4	6984											
ACADM	34	broad.mit.edu	37	chr1	76226969	76226969	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattgcaaatcagttagctActgatgctgtgcagatactt	8	7	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:76226969A>G	ENST00000370841.4	+	11	1545	c.1108A>G	c.(1108-1110)Act>Gct	p.T370A	ACADM_ENST00000543667.1_Missense_Mutation_p.T181A|ACADM_ENST00000370834.5_Missense_Mutation_p.T403A|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000541113.1_Missense_Mutation_p.T334A|ACADM_ENST00000420607.2_Missense_Mutation_p.T374A	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	370					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						TCAGTTAGCTACTGATGCTGT	0.393													False	0	False	1:76226969	0	G	76226969	A	G	76226969	3	3	81	1	0	0	0	0	1	0	0	0	113	391	14	4	1162	4	ACADM	1	76226969	Missense_Mutation	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	28712725	76226969	173023652	5	6985											
PTBP2	58155	broad.mit.edu	37	chr1	97250747	97250748	+	Frame_Shift_Ins	INS	-	-	CCTGTAAAAGTGAATAAAGCAT													acctgatcttccatctggggINSatggacaacctgcattggac							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:97250747_97250748insCCTGTAAAAGTGAATAAAGCAT	ENST00000236228.6	+	8	923_924	c.841_842insCCTGTAAAAGTGAATAAAGCAT	c.(841-843)gatfs	p.D281fs	PTBP2_ENST00000541987.1_Frame_Shift_Ins_p.D250fs|PTBP2_ENST00000426398.2_Frame_Shift_Ins_p.D281fs|PTBP2_ENST00000370198.1_Frame_Shift_Ins_p.D281fs|PTBP2_ENST00000394184.3_Frame_Shift_Ins_p.D292fs|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Frame_Shift_Ins_p.D281fs	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	281							nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TCCATCTGGGGATGGACAACCT	0.391													False	0	True	1:97250747	0	CCTGTAAAAGTGAATAAAGCAT	97250748	-	CCTGTAAAAGTGAATAAAGCAT	97250747	7	5	81	1	0	1	1	0	0	0	0	0	12802	1174	41	0	871	0	PTBP2	1	97250747	Frame_Shift_Ins	INS	-	TCGA-HZ-A8P1-01A-11D-A377-08	21023778	97250747	151999874	6	6986											
NBPF14	25832	broad.mit.edu	37	chr1	148017611	148017611	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaattgagagagtcgaataAccttcatcccaggactcctg	10	10	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:148017611A>G	ENST00000369219.1	-	6	688	c.672T>C	c.(670-672)ggT>ggC	p.G224G				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	224	NBPF 2.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GAGTCGAATAACCTTCATCCC	0.493													False	0	False	1:148017611	0	G	148017611	A	G	148017611	2	3	81	1	0	0	0	0	0	0	0	1	10262	30	2	4		4	NBPF14	1	148017611	Silent	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	50766864	148017611	101233010	7	6987											
USH2A	7399	broad.mit.edu	37	chr1	216061988	216061988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaccagggtagtaactTcttcctttcctttgactctt	7	11	3	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:216061988T>C	ENST00000366943.2	-	41	8389	c.8003A>G	c.(8002-8004)gAa>gGa	p.E2668G	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.E2668G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2668	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTAGTAACTTCTTCCTTTCC	0.448										HNSCC(13;0.011)			False	0	False	1:216061988	0	C	216061988	T	C	216061988	3	2	81	1	0	0	0	0	1	0	0	0	17120	1783	62	4	7733	4	USH2A	1	216061988	Missense_Mutation	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	68044377	216061988	33188633	8	6988											
ESRRG	2104	broad.mit.edu	37	chr1	216737608	216737608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccaccaactctcggtcgGccaagtcacacagtgtagtg	9	13	2	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:216737608G>A	ENST00000391890.3	-	7	1284	c.767C>T	c.(766-768)gCc>gTc	p.A256V	ESRRG_ENST00000359162.2_Missense_Mutation_p.A249V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A249V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A249V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A284V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A249V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A249V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A249V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A249V|ESRRG_ENST00000408911.3_Missense_Mutation_p.A272V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A249V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A210V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A249V	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	272					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.A272V(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTCTCGGTCGGCCAAGTCACA	0.463													False	0	True	1:216737608	0	A	216737608	G	A	216737608	3	1	81	1	0	0	0	0	1	0	0	0	5294	1203	42	2	573	2	ESRRG	1	216737608	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	675620	216737608	32513013	9	6989											
TLR5	7100	broad.mit.edu	37	chr1	223285330	223285330	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcgaactgtaaagttccccCagaaggttatatgacaaatt	7	8	0	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:223285330C>G	ENST00000540964.1	-	4	1505	c.1044G>C	c.(1042-1044)ctG>ctC	p.L348L	TLR5_ENST00000342210.6_Silent_p.L348L			O60602	TLR5_HUMAN	toll-like receptor 5	348					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAAGTTCCCCCAGAAGGTTAT	0.363													False	0	True	1:223285330	0	G	223285330	C	G	223285330	2	3	81	1	0	0	0	0	0	0	0	1	16036	581	21	5		5	TLR5	1	223285330	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	6547722	223285330	25965291	10	6990											
SOCS5	0	broad.mit.edu	37	chr2	46985870	46985871	+	Frame_Shift_Ins	INS	-	-	TATTT													aaaatattgccttacaactgINSggattaagcccttcgaagaa							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:46985870_46985871insTATTT	ENST00000306503.5	+	2	373_374	c.201_202insTATTT	c.(202-204)ggafs	p.G68fs	SOCS5_ENST00000394861.2_Frame_Shift_Ins_p.G68fs	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	68					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCTTACAACTGGGATTAAGCCC	0.381													False	0	True	2:46985870	0	TATTT	46985871	-	TATTT	46985870	7	5	81	1	0	1	1	0	0	0	0	0	14997	1335	47	0	203	0	SOCS5	2	46985870	Frame_Shift_Ins	INS	-	TCGA-HZ-A8P1-01A-11D-A377-08		46985870	196213503	11	6991											
PSME4	23198	broad.mit.edu	37	chr2	54093911	54093911	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaggatcatttagatgTgcactgagattcatgaggag	14	5	2	4			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:54093911T>C	ENST00000404125.1	-	45	5425	c.5370A>G	c.(5368-5370)gcA>gcG	p.A1790A	PSME4_ENST00000421748.2_Silent_p.A934A|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1790					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CATTTAGATGTGCACTGAGAT	0.423													False	0	False	2:54093911	0	C	54093911	T	C	54093911	2	2	81	1	0	0	0	0	0	0	0	1	12785	1683	59	4		4	PSME4	2	54093911	Silent	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	7108041	54093911	189105462	12	6992											
LRP1B	53353	broad.mit.edu	37	chr2	141243054	141243054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggttttttccaatccaatCgacagcaagtgcattgggga	11	8	0	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:141243054C>T	ENST00000389484.3	-	59	10254	c.9283G>A	c.(9283-9285)Gat>Aat	p.D3095N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3095					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAATCCAATCGACAGCAAGT	0.373										TSP Lung(27;0.18)			False	0	True	2:141243054	0	T	141243054	C	T	141243054	3	4	81	1	0	0	0	0	1	0	0	0	9017	884	31	1	4648	1	LRP1B	2	141243054	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	87149143	141243054	101956319	13	6993											
GALNT13	114805	broad.mit.edu	37	chr2	155099379	155099379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acactgtgaatgcacgttagGatggctggagcctttgctgg	14	8	0	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:155099379G>A	ENST00000392825.3	+	6	1214	c.647G>A	c.(646-648)gGa>gAa	p.G216E	GALNT13_ENST00000409237.1_Missense_Mutation_p.G216E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	216	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCACGTTAGGATGGCTGGAG	0.473													False	0	False	2:155099379	0	A	155099379	G	A	155099379	3	1	81	1	0	0	0	0	1	0	0	0	6254	1174	41	2	661	2	GALNT13	2	155099379	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	13856325	155099379	88099994	14	6994											
IFIH1	64135	broad.mit.edu	37	chr2	163134021	163134021	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accatcacaatactcatcatCaccaccctcatcactatcat	0	17	7	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:163134021C>A	ENST00000263642.2	-	10	2343	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	650					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						tactcatcatcaccaccctca	0.328													False	0	True	2:163134021	0	A	163134021	C	A	163134021	3	1	81	1	0	0	0	0	1	0	0	0	7570	826	29	3	1157	3	IFIH1	2	163134021	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	8034642	163134021	80065352	15	6995											
TTN	7273	broad.mit.edu	37	chr2	179578044	179578044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccattacaactgaggagccGgatagaccatttgtctcttt	8	10	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:179578044G>A	ENST00000589042.1	-	93	27041	c.26817C>T	c.(26815-26817)tcC>tcT	p.S8939S	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.S8622S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.S7695S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8622	Ig-like 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAGGAGCCGGATAGACCAT	0.393													False	0	False	2:179578044	0	A	179578044	G	A	179578044	2	1	81	1	0	0	0	0	0	0	0	1	16819	1103	39	1		1	TTN	2	179578044	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	16444023	179578044	63621329	16	6996											
ANKAR	150709	broad.mit.edu	37	chr2	190597916	190597916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgaaaatgaaggatttgaAtatgctgatgtcctttatct	8	5	1	4			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:190597916A>G	ENST00000520309.1	+	17	3472	c.3384A>G	c.(3382-3384)gaA>gaG	p.E1128E	ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000313581.4_Silent_p.E1128E|ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000431575.2_Silent_p.E1057E	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1128						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGGATTTGAATATGCTGATG	0.333													False	0	False	2:190597916	0	G	190597916	A	G	190597916	2	3	81	1	0	0	0	0	0	0	0	1	623	98	4	4		4	ANKAR	2	190597916	Silent	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	11019872	190597916	52601457	17	6997											
C2orf88	84281	broad.mit.edu	37	chr2	191064754	191064754	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacctccagggaccaatacTgtgatcttggaatatgcaca	9	10	1	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:191064754T>G	ENST00000340623.4	+	2	579	c.168T>G	c.(166-168)acT>acG	p.T56T	C2orf88_ENST00000443551.2_Silent_p.T56T|C2orf88_ENST00000409870.1_Silent_p.T56T|C2orf88_ENST00000396974.2_Silent_p.T56T	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	56			T -> I (in dbSNP:rs6753459).							kidney(1)|large_intestine(1)|lung(1)	3						GGACCAATACTGTGATCTTGG	0.453													False	0	False	2:191064754	0	G	191064754	T	G	191064754	2	3	81	1	0	0	0	0	0	0	0	1	2218	1567	55	4		4	C2orf88	2	191064754	Silent	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	466838	191064754	52134619	18	6998											
ANKRD44	91526	broad.mit.edu	37	chr2	197943459	197943459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgtgcccataggcggCagcataatgtatgctattgt	11	10	0	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:197943459C>T	ENST00000328737.2	-	16	1619	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	ANKRD44_ENST00000539527.1_Missense_Mutation_p.A468T|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A532T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A515T|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A515T|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A540T			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	540							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCATAGGCGGCAGCATAATGT	0.408													False	0	False	2:197943459	0	T	197943459	C	T	197943459	3	4	81	1	0	0	0	0	1	0	0	0	672	710	25	2	1260	2	ANKRD44	2	197943459	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	6878705	197943459	45255914	19	6999											
SATB2	23314	broad.mit.edu	37	chr2	200213649	200213649	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acggcaatctgttggtttatCagatgggccatggctatttg	12	7	2	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:200213649C>A	ENST00000443023.1	-	6	2236	c.771G>T	c.(769-771)ctG>ctT	p.L257L	SATB2_ENST00000457245.1_Silent_p.L316L|SATB2_ENST00000260926.5_Silent_p.L316L|SATB2_ENST00000428695.1_Silent_p.L198L|SATB2_ENST00000417098.1_Silent_p.L316L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	316						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTGGTTTATCAGATGGGCCA	0.527													False	0	False	2:200213649	0	A	200213649	C	A	200213649	2	1	81	1	0	0	0	0	0	0	0	1	13934	813	29	3		3	SATB2	2	200213649	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	2270190	200213649	42985724	20	7000											
SGOL2	151246	broad.mit.edu	37	chr2	201436187	201436187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaactgctagtgaagtcaGcaaaattgtcacagtctcaa	7	8	3	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:201436187G>A	ENST00000357799.4	+	7	1216	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	373					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGTGAAGTCAGCAAAATTGTC	0.338													False	0	False	2:201436187	0	A	201436187	G	A	201436187	3	1	81	1	0	0	0	0	1	0	0	0	14298	971	34	2	1140	2	SGOL2	2	201436187	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	1222538	201436187	41763186	21	7001											
FZD7	8324	broad.mit.edu	37	chr2	202900208	202900208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctacctggtggacatgCggcgcttcagctacccagag	11	14	2	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:202900208C>T	ENST00000286201.1	+	1	899	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	280					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGTGGACATGCGGCGCTTCAG	0.662											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:202900208	0	T	202900208	C	T	202900208	3	4	81	1	0	0	0	0	1	0	0	0	6177	759	27	1	840	1	FZD7	2	202900208	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	1464021	202900208	40299165	22	7002											
SPAG16	79582	broad.mit.edu	37	chr2	214182035	214182035	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgcttttggaaaatgagaAcaaaaatttaaagaaagatt	7	2	0	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:214182035A>C	ENST00000413312.1	+	4	644	c.398A>C	c.(397-399)aAc>aCc	p.N133T	SPAG16_ENST00000432529.2_Missense_Mutation_p.N164T|SPAG16_ENST00000374309.3_Missense_Mutation_p.N70T|SPAG16_ENST00000447990.1_Missense_Mutation_p.N164T|SPAG16_ENST00000272898.7_Missense_Mutation_p.N164T|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000331683.5_Missense_Mutation_p.N164T			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	164					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GAAAATGAGAACAAAAATTTA	0.313													False	0	False	2:214182035	0	C	214182035	A	C	214182035	3	2	81	1	0	0	0	0	1	0	0	0	15060	43	2	4	509	4	SPAG16	2	214182035	Missense_Mutation	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	11281827	214182035	29017338	23	7003											
TRPM8	79054	broad.mit.edu	37	chr2	234875381	234875381	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccacagaccagcatttcatCgcccagcctggggtccaggt	11	15	1	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:234875381C>T	ENST00000324695.4	+	15	2047	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	TRPM8_ENST00000433712.2_Silent_p.I357I	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	669						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGCATTTCATCGCCCAGCCTG	0.527													False	0	False	2:234875381	0	T	234875381	C	T	234875381	2	4	81	1	0	0	0	0	0	0	0	1	16675	874	31	1		1	TRPM8	2	234875381	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	20693346	234875381	8323992	24	7004											
RPSA	3921	broad.mit.edu	37	chr3	39453425	39453425	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgctgctgagaaggcagtGaccaaggaggaatttcaggg	16	7	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:39453425G>A	ENST00000301821.6	+	6	775	c.666G>A	c.(664-666)gtG>gtA	p.V222V	RPSA_ENST00000443003.1_Silent_p.V227V|RPSA_ENST00000478027.1_3'UTR	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	222	Laminin-binding.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		AGAAGGCAGTGACCAAGGAGG	0.488													False	0	False	3:39453425	0	A	39453425	G	A	39453425	2	1	81	1	0	0	0	0	0	0	0	1	13742	1277	45	2		2	RPSA	3	39453425	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08		39453425	158569005	25	7005											
PBRM1	55193	broad.mit.edu	37	chr3	52651382	52651382	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcattgcggatgttatgctCaattattttcaagtccattg	8	7	3	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:52651382C>A	ENST00000356770.4	-	13	1620	c.1618G>T	c.(1618-1620)Gag>Tag	p.E540*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E587*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E572*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E572*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E572*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.E572*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E572*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E587*			Q86U86	PB1_HUMAN	polybromo 1	572	Bromo 4.		R -> S (found in a case of clear cell renal carcinoma; somatic mutation).		chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.E572fs*16(2)|p.E540fs*16(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTTATGCTCAATTATTTTC	0.398			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								False	0	False	3:52651382	0	A	52651382	C	A	52651382	4	1	81	1	0	0	0	0	0	1	0	0	11559	835	29	3	3254	3	PBRM1	3	52651382	Nonsense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	13197957	52651382	145371048	26	7006											
PBRM1	55193	broad.mit.edu	37	chr3	52651477	52651477	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	taaataggtcacaaagtcttCtgcctgaacctggctctcga	8	11	4	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:52651477C>G	ENST00000356770.4	-	13	1525	c.1523G>C	c.(1522-1524)aGa>aCa	p.R508T	PBRM1_ENST00000409767.1_Missense_Mutation_p.R555T|PBRM1_ENST00000410007.1_Missense_Mutation_p.R540T|PBRM1_ENST00000409057.1_Missense_Mutation_p.R540T|PBRM1_ENST00000337303.4_Missense_Mutation_p.R540T|PBRM1_ENST00000296302.7_Missense_Mutation_p.R540T|PBRM1_ENST00000394830.3_Missense_Mutation_p.R540T|PBRM1_ENST00000409114.3_Missense_Mutation_p.R555T			Q86U86	PB1_HUMAN	polybromo 1	540					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACAAAGTCTTCTGCCTGAACC	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								False	0	False	3:52651477	0	G	52651477	C	G	52651477	3	3	81	1	0	0	0	0	1	0	0	0	11559	913	32	5	3349	5	PBRM1	3	52651477	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	95	52651477	145370953	27	7007											
BOC	91653	broad.mit.edu	37	chr3	113005548	113005548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctgcttgggccttgtgCcagttgaagaggtggacagt	15	8	0	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:113005548C>T	ENST00000495514.1	+	20	3888	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	BOC_ENST00000273395.4_Missense_Mutation_p.P1063S|BOC_ENST00000355385.3_Missense_Mutation_p.P1062S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1062					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGCCTTGTGCCAGTTGAAGA	0.577													False	0	False	3:113005548	0	T	113005548	C	T	113005548	3	4	81	1	0	0	0	0	1	0	0	0	1486	739	26	2	3254	2	BOC	3	113005548	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	60354071	113005548	85016882	28	7008											
TBC1D14	57533	broad.mit.edu	37	chr4	7011659	7011659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgcttatacttgttaccGgccagatgtgggttatgtaa	13	7	0	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:7011659G>A	ENST00000409757.4	+	10	1626	c.1502G>A	c.(1501-1503)cGg>cAg	p.R501Q	TBC1D14_ENST00000446947.2_Missense_Mutation_p.R148Q|TBC1D14_ENST00000451522.2_Missense_Mutation_p.R221Q|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R501Q|TBC1D14_ENST00000410031.1_Missense_Mutation_p.R273Q	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	501	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ACTTGTTACCGGCCAGATGTG	0.383													False	0	False	4:7011659	0	A	7011659	G	A	7011659	3	1	81	1	0	0	0	0	1	0	0	0	15685	1116	39	1	1543	1	TBC1D14	4	7011659	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08		7011659	184142617	29	7009											
SORCS2	57537	broad.mit.edu	37	chr4	7666085	7666085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctctctcctgtagattttCggtacgtcacctgcgcaatc	8	14	2	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:7666085C>T	ENST00000507866.2	+	7	1067	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	SORCS2_ENST00000329016.9_Missense_Mutation_p.R148W	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	320						integral to membrane	neuropeptide receptor activity	p.R170W(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTAGATTTTCGGTACGTCAC	0.597													False	0	True	4:7666085	0	T	7666085	C	T	7666085	3	4	81	1	0	0	0	0	1	0	0	0	15011	875	31	1	984	1	SORCS2	4	7666085	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	654426	7666085	183488191	30	7010											
TXK	7294	broad.mit.edu	37	chr4	48069714	48069714	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggcaaatgtagggcggccTtcaggtttctggaaaaggga	15	7	2	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:48069714T>C	ENST00000264316.4	-	15	1609	c.1524A>G	c.(1522-1524)gaA>gaG	p.E508E	TXK_ENST00000507351.1_Silent_p.E163E	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	508	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TAGGGCGGCCTTCAGGTTTCT	0.507													False	0	False	4:48069714	0	C	48069714	T	C	48069714	2	2	81	1	0	0	0	0	0	0	0	1	16870	1606	56	4		4	TXK	4	48069714	Silent	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	40403629	48069714	143084562	31	7011											
SEC31A	22872	broad.mit.edu	37	chr4	83742207	83742207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactgtctgttccctaagttTatcatacagaaactccaaac	4	11	2	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:83742207T>C	ENST00000432794.1	-	27	3668	c.3505A>G	c.(3505-3507)Aaa>Gaa	p.K1169E	SEC31A_ENST00000509142.1_Missense_Mutation_p.K1042E|SEC31A_ENST00000508502.1_Missense_Mutation_p.K1141E|SEC31A_ENST00000348405.4_Missense_Mutation_p.K1117E|SEC31A_ENST00000311785.7_Missense_Mutation_p.K1042E|SEC31A_ENST00000505472.1_Missense_Mutation_p.K1187E|SEC31A_ENST00000505984.1_Missense_Mutation_p.K1102E|SEC31A_ENST00000264405.5_Missense_Mutation_p.K905E|SEC31A_ENST00000395310.2_Missense_Mutation_p.K1156E|SEC31A_ENST00000448323.1_Missense_Mutation_p.K1156E|SEC31A_ENST00000355196.2_Missense_Mutation_p.K1156E|SEC31A_ENST00000513858.1_Missense_Mutation_p.K1003E|SEC31A_ENST00000500777.2_Missense_Mutation_p.K1003E|SEC31A_ENST00000326950.5_Missense_Mutation_p.K1117E|SEC31A_ENST00000443462.2_Missense_Mutation_p.K1136E			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1156					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCCTAAGTTTATCATACAGA	0.338													False	0	True	4:83742207	0	C	83742207	T	C	83742207	3	2	81	1	0	0	0	0	1	0	0	0	14079	1763	61	4	204	4	SEC31A	4	83742207	Missense_Mutation	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	35672493	83742207	107412069	32	7012											
SLC10A6	345274	broad.mit.edu	37	chr4	87744851	87744851	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctagtccctgctattcacatGaagtgatgtggccaactggc	10	11	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:87744851G>A	ENST00000273905.6	-	6	1271	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L		NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	375						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTATTCACATGAAGTGATGTG	0.542													False	0	False	4:87744851	0	A	87744851	G	A	87744851	3	1	81	1	0	0	0	0	1	0	0	0	14459	1294	45	2	13	2	SLC10A6	4	87744851	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	4002644	87744851	103409425	33	7013											
PKD2	5311	broad.mit.edu	37	chr4	88986632	88986632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttaaactttgacgaacttcGacaagatctcaaagggtgag	10	7	1	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:88986632G>A	ENST00000237596.2	+	11	2291	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.R160Q|PKD2_ENST00000508588.1_Missense_Mutation_p.R160Q	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	742	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GACGAACTTCGACAAGATCTC	0.403													False	0	False	4:88986632	0	A	88986632	G	A	88986632	3	1	81	1	0	0	0	0	1	0	0	0	12035	1058	37	1	2267	1	PKD2	4	88986632	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	1241781	88986632	102167644	34	7014											
PDLIM5	10611	broad.mit.edu	37	chr4	95444888	95444888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacagctaaaagatggcgGcaaggcagcccaggcaaatg	12	9	0	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:95444888G>A	ENST00000317968.4	+	3	246	c.110G>A	c.(109-111)gGc>gAc	p.G37D	PDLIM5_ENST00000437932.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000508216.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000380180.3_Missense_Mutation_p.G37D|PDLIM5_ENST00000318007.5_Missense_Mutation_p.G37D|PDLIM5_ENST00000538141.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000450793.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000514743.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000542407.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	37	PDZ.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAAGATGGCGGCAAGGCAGCC	0.348													False	0	False	4:95444888	0	A	95444888	G	A	95444888	3	1	81	1	0	0	0	0	1	0	0	0	11751	1203	42	2	116	2	PDLIM5	4	95444888	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	6458256	95444888	95709388	35	7015											
METAP1	23173	broad.mit.edu	37	chr4	99982458	99982458	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcacggcctcacttcatgtCtcaattttaatttctcccaa	4	13	4	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:99982458C>T	ENST00000296411.6	+	11	1285	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	METAP1_ENST00000544031.1_Missense_Mutation_p.S334F	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	384					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CACTTCATGTCTCAATTTTAA	0.458													False	0	False	4:99982458	0	T	99982458	C	T	99982458	3	4	81	1	0	0	0	0	1	0	0	0	9553	913	32	2	1193	2	METAP1	4	99982458	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	4537570	99982458	91171818	36	7016											
NPY1R	0	broad.mit.edu	37	chr4	164246771	164246771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacacagtgttaaagatgGtaagagggagccagcagact	12	7	0	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:164246771G>A	ENST00000296533.2	-	3	1370	c.839C>T	c.(838-840)aCc>aTc	p.T280I	NPY1R_ENST00000509586.1_Missense_Mutation_p.T37I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	280					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTAAAGATGGTAAGAGGGAG	0.428													False	0	False	4:164246771	0	A	164246771	G	A	164246771	3	1	81	1	0	0	0	0	1	0	0	0	10676	1261	44	2	319	2	NPY1R	4	164246771	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	64264313	164246771	26907505	37	7017											
WDR17	116966	broad.mit.edu	37	chr4	177069371	177069371	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaggattaatgtggaaTactgagattccatatctgct	11	5	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:177069371T>A	ENST00000393643.2	+	13	2034	c.1782T>A	c.(1780-1782)aaT>aaA	p.N594K	WDR17_ENST00000508596.1_Missense_Mutation_p.N594K|WDR17_ENST00000280190.4_Missense_Mutation_p.N618K|WDR17_ENST00000507824.2_Missense_Mutation_p.N601K	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	618										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TAATGTGGAATACTGAGATTC	0.413													False	0	False	4:177069371	0	A	177069371	T	A	177069371	3	1	81	1	0	0	0	0	1	0	0	0	17361	1403	49	5	1904	5	WDR17	4	177069371	Missense_Mutation	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	12822600	177069371	14084905	38	7018											
TLR3	7098	broad.mit.edu	37	chr4	187005297	187005297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatttttgttataacacaCcatctattaaaagacccatt	2	8	1	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:187005297C>T	ENST00000296795.3	+	4	2561	c.2457C>T	c.(2455-2457)caC>caT	p.H819H	TLR3_ENST00000504367.1_Silent_p.H542H	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3		TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTATAACACACCATCTATTAA	0.299													False	0	True	4:187005297	0	T	187005297	C	T	187005297	2	4	81	1	0	0	0	0	0	0	0	1	16034	506	18	2		2	TLR3	4	187005297	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	9935926	187005297	4148979	39	7019											
NAIP	4671	broad.mit.edu	37	chr5	70308630	70308630	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgctcctcttcttctAgttcctttgccaactgaact	4	15	4	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:70308630A>G	ENST00000517649.1	-	4	403	c.113T>C	c.(112-114)cTa>cCa	p.L38P	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.L38P|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.L38P	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	38					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTCTTCTTCTAGTTCCTTTGC	0.463													False	0	True	5:70308630	0	G	70308630	A	G	70308630	3	3	81	1	0	0	0	0	1	0	0	0	10214	420	15	4	4154	4	NAIP	5	70308630	Missense_Mutation	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08		70308630	110606630	40	7020											
AGGF1	55109	broad.mit.edu	37	chr5	76351417	76351418	+	In_Frame_Ins	INS	-	-	TGTACAAAATTAAAACTA													atacgagtaaaatatggtttINSacaggtgaggatgttgaata							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:76351417_76351418insTGTACAAAATTAAAACTA	ENST00000312916.7	+	11	2094_2095	c.1712_1713insTGTACAAAATTAAAACTA	c.(1711-1716)ttacag>ttTGTACAAAATTAAAACTAacag	p.571_571L>FVQN*N*		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	571					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAATATGGTTTACAGGTGAGGA	0.282													False	0	True	5:76351417	0	TGTACAAAATTAAAACTA	76351418	-	TGTACAAAATTAAAACTA	76351417	7	5	81	1	0	1	1	0	0	0	0	0	382	1764	61	0	1754	0	AGGF1	5	76351417	In_Frame_Ins	INS	-	TCGA-HZ-A8P1-01A-11D-A377-08	6042787	76351417	104563843	41	7021											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	81	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-HZ-A8P1-01A-11D-A377-08	2259027	78610444	102304816	42	7022											
SLC36A2	153201	broad.mit.edu	37	chr5	150715058	150715058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgggggtcagaatcacCgtctcattggaatagcagtt	13	7	3	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:150715058C>T	ENST00000335244.4	-	6	705	c.576G>A	c.(574-576)acG>acA	p.T192T	SLC36A2_ENST00000521967.1_Silent_p.T192T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	192					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAATCACCGTCTCATTGG	0.522													False	0	False	5:150715058	0	T	150715058	C	T	150715058	2	4	81	1	0	0	0	0	0	0	0	1	14674	639	23	1		1	SLC36A2	5	150715058	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	72104614	150715058	30200202	43	7023											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834679	27834693	+	In_Frame_Del	DEL	GCTTTGGGCTTAGCG	GCTTTGGGCTTAGCG	-													ttgcagctttaggttttgctGctttgggcttagcggctttg							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	GCTTTGGGCTTAGCG	GCTTTGGGCTTAGCG	-	-	GCTTTGGGCTTAGCG	GCTTTGGGCTTAGCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:27834679_27834693delGCTTTGGGCTTAGCG	ENST00000331442.3	-	1	666_680	c.615_629delCGCTAAGCCCAAAGC	c.(613-630)gccgctaagcccaaagca>gca	p.205_210AAKPKA>A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	205					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						AGGTTTTGCTGCTTTGGGCTTAGCGGCTTTGGGCT	0.544													False	1	True	6:27834679	0	-	27834693	GCTTTGGGCTTAGCG	-	27834679	7	5	81	1	0	1	0	1	0	0	0	0	7170	1319	46	0	55	0	HIST1H1B	6	27834679	In_Frame_Del	DEL	GCTTTGGGCTTAGCG	TCGA-HZ-A8P1-01A-11D-A377-08		27834679	143280388	44	7024											
EYS	346007	broad.mit.edu	37	chr6	66063349	66063349	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaaattacataaatttgttAcctgcaaatcccaattgcca	3	9	0	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:66063349A>T	ENST00000503581.1	-	9	1997		c.e9+1		EYS_ENST00000370621.3_Splice_Site|EYS_ENST00000342421.5_Splice_Site|EYS_ENST00000370618.3_Splice_Site|EYS_ENST00000393380.2_Splice_Site|EYS_ENST00000370616.2_Splice_Site	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAAATTTGTTACCTGCAAATC	0.333													False	0	False	6:66063349	0	T	66063349	A	T	66063349	5	4	81	1	0	0	0	0	0	0	1	0	5365	405	14	5	8075	5	EYS	6	66063349	Splice_Site	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	38228670	66063349	105051718	45	7025											
BAI3	577	broad.mit.edu	37	chr6	69349053	69349053	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtattgaacaaggtcagCccaagccagtttggttgcca	11	9	1	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:69349053C>A	ENST00000370598.1	+	3	1307	c.486C>A	c.(484-486)agC>agA	p.S162R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	162					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACAAGGTCAGCCCAAGCCAGT	0.368													False	0	True	6:69349053	0	A	69349053	C	A	69349053	3	1	81	1	0	0	0	0	1	0	0	0	1304	738	26	3	488	3	BAI3	6	69349053	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	3285704	69349053	101766014	46	7026											
KCNQ5	56479	broad.mit.edu	37	chr6	73830223	73830223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtgtttggcgtagttaCgcagctgatgagaaatctgt	13	6	1	2	rs144427126		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:73830223C>T	ENST00000342056.2	+	8	1541	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y	KCNQ5_ENST00000402622.2_Silent_p.Y381Y|KCNQ5_ENST00000355635.3_Silent_p.Y381Y|KCNQ5_ENST00000414165.2_Silent_p.Y381Y|KCNQ5_ENST00000355194.4_Silent_p.Y381Y|KCNQ5_ENST00000370392.1_Silent_p.Y381Y|KCNQ5_ENST00000403813.2_Silent_p.Y381Y|KCNQ5_ENST00000370398.1_Silent_p.Y381Y	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	381					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGCGTAGTTACGCAGCTGATG	0.428													False	0	False	6:73830223	0	T	73830223	C	T	73830223	2	4	81	1	0	0	0	0	0	0	0	1	8136	547	19	1		1	KCNQ5	6	73830223	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	4481170	73830223	97284844	47	7027											
SDK1	221935	broad.mit.edu	37	chr7	3991368	3991378	+	Frame_Shift_Del	DEL	GGAGGACCTGA	GGAGGACCTGA	-													tttcattcccacaggcctgtGgaggacctgagtgtgacctg							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	GGAGGACCTGA	GGAGGACCTGA	-	-	GGAGGACCTGA	GGAGGACCTGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:3991368_3991378delGGAGGACCTGA	ENST00000389531.3	+	7	966_976	c.966_976delGGAGGACCTGA	c.(964-978)gtggaggacctgagtfs	p.EDLS323fs	SDK1_ENST00000404826.2_Frame_Shift_Del_p.EDLS323fs			Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	323	Ig-like C2-type 3.				cell adhesion	integral to membrane		p.V322V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAGGCCTGTGGAGGACCTGAGTGTGACCTG	0.583													False	1	False	7:3991368	0	-	3991378	GGAGGACCTGA	-	3991368	7	5	81	1	0	1	0	1	0	0	0	0	14049	1335	47	0	992	0	SDK1	7	3991368	Frame_Shift_Del	DEL	GGAGGACCTGA	TCGA-HZ-A8P1-01A-11D-A377-08		3991368	155147295	48	7028											
HDAC9	9734	broad.mit.edu	37	chr7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtggaccctgttgtccGtgagaagcaattgcagcagg	15	9	0	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:18625006G>A	ENST00000406451.4	+	3	275	c.125G>A	c.(124-126)cGt>cAt	p.R42H	HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42H|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTGTTGTCCGTGAGAAGCAA	0.493													False	0	False	7:18625006	0	A	18625006	G	A	18625006	3	1	81	1	0	0	0	0	1	0	0	0	7061	1145	40	1	131	1	HDAC9	7	18625006	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	14633638	18625006	140513657	49	7029											
POMZP3	22932	broad.mit.edu	37	chr7	76254991	76254991	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gacagtgttgagctgattatCtgctctggtctataatgaaa	10	6	3	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:76254991C>G	ENST00000310842.4	-	3	759	c.75G>C	c.(73-75)caG>caC	p.Q25H	UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Missense_Mutation_p.Q25H	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	25										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGCTGATTATCTGCTCTGGTC	0.418													False	0	False	7:76254991	0	G	76254991	C	G	76254991	3	3	81	1	0	0	0	0	1	0	0	0	12316	912	32	5	511	5	POMZP3	7	76254991	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	57629985	76254991	82883672	50	7030											
ABCB4	5244	broad.mit.edu	37	chr7	87060829	87060829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcgatgacatctgcatttCggaccgtagacagtcggtgt	12	10	1	2	rs144398632		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:87060829C>T	ENST00000265723.4	-	15	1895	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	ABCB4_ENST00000545634.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.R595Q|ABCB4_ENST00000358400.3_Missense_Mutation_p.R595Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	595	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATCTGCATTTCGGACCGTAGA	0.488													False	0	True	7:87060829	0	T	87060829	C	T	87060829	3	4	81	1	0	0	0	0	1	0	0	0	43	884	31	1	2132	1	ABCB4	7	87060829	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	10805838	87060829	72077834	51	7031											
LRRC4	64101	broad.mit.edu	37	chr7	127668984	127668984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggatgtcttcgtccacCtggattatctcaacagtccg	10	12	2	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:127668984C>T	ENST00000249363.3	-	2	1967	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	570						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CTTCGTCCACCTGGATTATCT	0.562													False	0	False	7:127668984	0	T	127668984	C	T	127668984	2	4	81	1	0	0	0	0	0	0	0	1	9059	680	24	2		2	LRRC4	7	127668984	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	40608155	127668984	31469679	52	7032											
MYOM2	9172	broad.mit.edu	37	chr8	2092682	2092682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagctcagcgagcacttctCggtgaaggtggagcaggcca	14	12	2	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:2092682C>T	ENST00000262113.4	+	37	4316	c.4175C>T	c.(4174-4176)tCg>tTg	p.S1392L	MYOM2_ENST00000523438.1_Missense_Mutation_p.S817L|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1392	Ig-like C2-type 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGCACTTCTCGGTGAAGGTG	0.527													False	0	False	8:2092682	0	T	2092682	C	T	2092682	3	4	81	1	0	0	0	0	1	0	0	0	10159	893	31	1	4317	1	MYOM2	8	2092682	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08		2092682	144271340	53	7033											
ZMAT4	79698	broad.mit.edu	37	chr8	40532397	40532397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctttgatagggagatgCgaccaccggagcagtgtcca	12	10	2	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:40532397C>T	ENST00000297737.6	-	5	549	c.403G>A	c.(403-405)Gca>Aca	p.A135T	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	135						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TAGGGAGATGCGACCACCGGA	0.517													False	0	False	8:40532397	0	T	40532397	C	T	40532397	3	4	81	1	0	0	0	0	1	0	0	0	17777	768	27	1	298	1	ZMAT4	8	40532397	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	38439715	40532397	105831625	54	7034											
IKBKB	3551	broad.mit.edu	37	chr8	42129663	42129663	+	Nonsense_Mutation	SNP	G	G	A													acgcagacatgtggggcctgGgaaatgaaagagcgccttgg							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:42129663G>A	ENST00000520810.1	+	2	231	c.45G>A	c.(43-45)tgG>tgA	p.W15*	IKBKB_ENST00000522147.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000518983.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000519735.1_Nonsense_Mutation_p.W15*	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	15	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GTGGGGCCTGGGAAATGAAAG	0.537													False	0	True	8:42129663	0	A	42129663	G	A	42129663	4	1	81	1	0	0	0	0	0	1	0	0	7661	1241	43	2	47	2	IKBKB	8	42129663	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	1597266	42129663	104234359	55	7035	124	2									
IKBKB	3551	broad.mit.edu	37	chr8	42129664	42129664	+	Missense_Mutation	SNP	G	G	A													cgcagacatgtggggcctggGaaatgaaagagcgccttggg							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:42129664G>A	ENST00000520810.1	+	2	232	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	IKBKB_ENST00000522147.1_Missense_Mutation_p.E16K|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000518983.1_Missense_Mutation_p.E16K|IKBKB_ENST00000519735.1_Missense_Mutation_p.E16K	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	16	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TGGGGCCTGGGAAATGAAAGA	0.542													False	0	True	8:42129664	0	A	42129664	G	A	42129664	3	1	81	1	0	0	0	0	1	0	0	0	7661	1175	41	2	48	2	IKBKB	8	42129664	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	1	42129664	104234358	56	7036	124	2									
TYRP1	7306	broad.mit.edu	37	chr9	12698537	12698537	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gatatctgcacggatgacttGatgggatccagaagcaactt	11	8	1	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:12698537G>C	ENST00000388918.5	+	4	924	c.795G>C	c.(793-795)ttG>ttC	p.L265F	TYRP1_ENST00000381136.2_Intron|TYRP1_ENST00000381137.2_Intron	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	265					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CGGATGACTTGATGGGATCCA	0.433									Oculocutaneous Albinism				False	0	False	9:12698537	0	C	12698537	G	C	12698537	3	2	81	1	0	0	0	0	1	0	0	0	16900	1281	45	5	805	5	TYRP1	9	12698537	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08		12698537	128514894	57	7037											
SLC24A2	25769	broad.mit.edu	37	chr9	19786147	19786147	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgtagaaagacacatctcGaaagagcggccaccatgtca	9	10	2	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:19786147G>A	ENST00000341998.2	-	1	779	c.718C>T	c.(718-720)Cga>Tga	p.R240*	SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.R240*	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	240					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GACACATCTCGAAAGAGCGGC	0.398													False	0	True	9:19786147	0	A	19786147	G	A	19786147	4	1	81	1	0	0	0	0	0	1	0	0	14546	1066	37	1	1307	1	SLC24A2	9	19786147	Nonsense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	7087610	19786147	121427284	58	7038											
CREB3	10488	broad.mit.edu	37	chr9	35733435	35733435	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatgaggagaagagtctaTtggagaaggaggggcttatt	16	3	1	5			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:35733435T>C	ENST00000353704.2	+	4	826	c.388T>C	c.(388-390)Ttg>Ctg	p.L130L	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	154					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		GAAGAGTCTATTGGAGAAGGA	0.468													False	0	False	9:35733435	0	C	35733435	T	C	35733435	2	2	81	1	0	0	0	0	0	0	0	1	3878	1490	52	4		4	CREB3	9	35733435	Silent	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	15947288	35733435	105479996	59	7039											
FBXO10	26267	broad.mit.edu	37	chr9	37537233	37537233	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggaagaggcacttgcggatGaggcagccctgcacggagtt	16	10	0	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:37537233G>C	ENST00000432825.2	-	3	1341	c.1293C>G	c.(1291-1293)ctC>ctG	p.L431L	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	431						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACTTGCGGATGAGGCAGCCCT	0.602													False	0	False	9:37537233	0	C	37537233	G	C	37537233	2	2	81	1	0	0	0	0	0	0	0	1	5766	1277	45	5		5	FBXO10	9	37537233	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	1803798	37537233	103676198	60	7040											
SMC2	10592	broad.mit.edu	37	chr9	106889705	106889705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attctcagcttaaaattaagGaattagaccacaacatcagc	5	9	2	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:106889705G>A	ENST00000286398.7	+	20	3022	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	SMC2_ENST00000374787.3_Missense_Mutation_p.E912K|SMC2_ENST00000374793.3_Missense_Mutation_p.E912K|SMC2_ENST00000303219.8_Missense_Mutation_p.E912K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	912					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAAAATTAAGGAATTAGACCA	0.353													False	0	False	9:106889705	0	A	106889705	G	A	106889705	3	1	81	1	0	0	0	0	1	0	0	0	14863	1175	41	2	2808	2	SMC2	9	106889705	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	69352472	106889705	34323726	61	7041											
ECD	11319	broad.mit.edu	37	chr10	74912158	74912158	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgcaccaattgtgcatAtagacatttagtgaatgtga	9	5	0	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:74912158A>G	ENST00000372979.4	-	7	1011	c.805T>C	c.(805-807)Tat>Cat	p.Y269H	ECD_ENST00000430082.2_Missense_Mutation_p.Y269H|ECD_ENST00000454759.2_Intron	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	269					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					AATTGTGCATATAGACATTTA	0.433													False	0	False	10:74912158	0	G	74912158	A	G	74912158	3	3	81	1	0	0	0	0	1	0	0	0	4918	449	16	4	1264	4	ECD	10	74912158	Missense_Mutation	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08		74912158	60622589	62	7042											
CDHR1	92211	broad.mit.edu	37	chr10	85968486	85968486	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactctccaaattctctaggGagccaatgccaaattcaact	5	13	3	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:85968486G>A	ENST00000372117.3	+	12	1272	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	CDHR1_ENST00000332904.3_Splice_Site_p.G390E|CDHR1_ENST00000440770.2_Splice_Site_p.G149E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	390	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATTCTCTAGGGAGCCAATGCC	0.453													False	0	True	10:85968486	0	A	85968486	G	A	85968486	5	1	81	1	0	0	0	0	0	0	1	0	3141	1188	41	2	1215	2	CDHR1	10	85968486	Splice_Site	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	11056328	85968486	49566261	63	7043											
BTRC	8945	broad.mit.edu	37	chr10	103239151	103239151	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aacagctgtgccagactctgCttaaaccaagaaacagtatg	8	10	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:103239151C>G	ENST00000370187.3	+	4	379	c.261C>G	c.(259-261)tgC>tgG	p.C87W	BTRC_ENST00000408038.2_Missense_Mutation_p.C51W|BTRC_ENST00000393441.4_Missense_Mutation_p.C46W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCAGACTCTGCTTAAACCAAG	0.353													False	0	False	10:103239151	0	G	103239151	C	G	103239151	3	3	81	1	0	0	0	0	1	0	0	0	1576	805	28	5	275	5	BTRC	10	103239151	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	17270665	103239151	32295596	64	7044											
OR5M8	219484	broad.mit.edu	37	chr11	56258789	56258789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagaatttgtaattcccGgcgactggtcagtcccagga	13	9	1	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:56258789G>A	ENST00000327216.2	-	1	82	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGTAATTCCCGGCGACTGGTC	0.478													False	0	True	11:56258789	0	A	56258789	G	A	56258789	3	1	81	1	0	0	0	0	1	0	0	0	11244	1115	39	1	881	1	OR5M8	11	56258789	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08		56258789	78747727	65	7045											
CORO1B	57175	broad.mit.edu	37	chr11	67209273	67209273	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cactcgcttggtgtgcccctCcagtaccaccaccggctctg	9	18	1	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:67209273C>G	ENST00000393893.1	-	5	488	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	CORO1B_ENST00000453768.2_Missense_Mutation_p.E129Q|CORO1B_ENST00000341356.5_Missense_Mutation_p.E129Q|CORO1B_ENST00000545016.1_Missense_Mutation_p.E129Q	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	129					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTGTGCCCCTCCAGTACCACC	0.667													False	0	False	11:67209273	0	G	67209273	C	G	67209273	3	3	81	1	0	0	0	0	1	0	0	0	3777	864	30	5	1116	5	CORO1B	11	67209273	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	10950484	67209273	67797243	66	7046											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249298	71249298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ccgtggctcctgtgggggctCcaagggggactgtggctcct	17	12	0	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:71249298C>G	ENST00000398534.3	+	1	228	c.197C>G	c.(196-198)tCc>tGc	p.S66C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	66	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGTGGGGGCTCCAAGGGGGAC	0.662													False	0	False	11:71249298	0	G	71249298	C	G	71249298	3	3	81	1	0	0	0	0	1	0	0	0	8618	855	30	5	199	5	KRTAP5-8	11	71249298	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	4040025	71249298	63757218	67	7047											
CADM1	23705	broad.mit.edu	37	chr11	115080341	115080346	+	In_Frame_Del	DEL	GTGGTT	GTGGTT	-													tggtggtggtggtggtggtgGtggttgttgtgggaggaggg					rs148111993	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	GTGGTT	GTGGTT	-	-	GTGGTT	GTGGTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:115080341_115080346delGTGGTT	ENST00000537058.1	-	8	1046_1051	c.1026_1031delAACCAC	c.(1024-1032)acaaccacc>acc	p.342_344TTT>T	CADM1_ENST00000331581.6_In_Frame_Del_p.342_344TTT>T|CADM1_ENST00000452722.2_In_Frame_Del_p.342_344TTT>T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	342				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ggtggtggtggtggttgttgtggGAG	0.432													False	1	True	11:115080341	0	-	115080346	GTGGTT	-	115080341	7	5	81	1	0	1	0	1	0	0	0	0	2586	1261	44	0	309	0	CADM1	11	115080341	In_Frame_Del	DEL	GTGGTT	TCGA-HZ-A8P1-01A-11D-A377-08	43831043	115080341	19926175	68	7048											
DSCAML1	57453	broad.mit.edu	37	chr11	117376404	117376404	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaatgtagagcagctggccGatggaggcgggtgggaattc	19	6	0	1	rs140529836	by1000genomes	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:117376404G>A	ENST00000321322.6	-	9	2008	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	DSCAML1_ENST00000527706.1_Silent_p.I399I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	609	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCAGCTGGCCGATGGAGGCGG	0.637													False	0	False	11:117376404	0	A	117376404	G	A	117376404	2	1	81	1	0	0	0	0	0	0	0	1	4799	1048	37	1		1	DSCAML1	11	117376404	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	2296063	117376404	17630112	69	7049											
IFT46	56912	broad.mit.edu	37	chr11	118416125	118416125	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccctgatgcttggctcaccTgtgagttcttgaattctgag	10	11	3	4			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:118416125T>C	ENST00000264020.2	-	12	1348	c.971A>G	c.(970-972)cAg>cGg	p.Q324R	TMEM25_ENST00000354284.4_Intron|IFT46_ENST00000530872.1_Intron|IFT46_ENST00000264021.3_Splice_Site_p.Q273R|TMEM25_ENST00000442938.2_Intron	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	273					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTGGCTCACCTGTGAGTTCTT	0.463													False	0	False	11:118416125	0	C	118416125	T	C	118416125	5	2	81	1	0	0	0	0	0	0	1	0	7610	1594	55	4	104	4	IFT46	11	118416125	Splice_Site	SNP	T	TCGA-HZ-A8P1-01A-11D-A377-08	1039721	118416125	16590391	70	7050											
ETS1	2113	broad.mit.edu	37	chr11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgccatctcatcccaaaAggggtagcaaggtctttgct	10	10	2	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1		PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448													False	0	True	11:128426243	0	G	128426243	A	G	128426243	3	3	81	1	0	0	0	0	1	0	0	0	5307	72	3	4	1418	4	ETS1	11	128426243	Missense_Mutation	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	10010118	128426243	6580273	71	7051											
PZP	5858	broad.mit.edu	37	chr12	9303328	9303328	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgaaggaaaaacttagCgtctgatttgtcacctgaaa	8	8	2	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:9303328C>T	ENST00000261336.2	-	34	4324	c.4296G>A	c.(4294-4296)acG>acA	p.T1432T	PZP_ENST00000381997.2_Silent_p.T1218T	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AAAAACTTAGCGTCTGATTTG	0.393													False	0	False	12:9303328	0	T	9303328	C	T	9303328	2	4	81	1	0	0	0	0	0	0	0	1	12948	755	27	1		1	PZP	12	9303328	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08		9303328	124548567	72	7052											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	81	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	16094956	25398284	108453611	73	7053											
ITPR2	3709	broad.mit.edu	37	chr12	26809320	26809321	+	Frame_Shift_Ins	INS	-	-	T													gggatcccggtcaacgtgcaINStgtggagcatgaggcgacag							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:26809320_26809321insT	ENST00000381340.3	-	19	2769_2770	c.2353_2354insA	c.(2353-2355)atgfs	p.M785fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	785					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTCAACGTGCATGTGGAGCATG	0.554													False	1	False	12:26809320	0	T	26809321	-	T	26809320	7	5	81	1	0	1	1	0	0	0	0	0	7971	217	8	0	5907	0	ITPR2	12	26809320	Frame_Shift_Ins	INS	-	TCGA-HZ-A8P1-01A-11D-A377-08	1411036	26809320	107042575	74	7054											
MYF6	4618	broad.mit.edu	37	chr12	81101627	81101627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatggtaccttgtccccCtgccaggaccaaatgccccc	9	16	0	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:81101627C>T	ENST00000228641.3	+	1	351	c.129C>T	c.(127-129)ccC>ccT	p.P43P		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	43					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CCTTGTCCCCCTGCCAGGACC	0.597													False	0	True	12:81101627	0	T	81101627	C	T	81101627	2	4	81	1	0	0	0	0	0	0	0	1	10095	668	24	2		2	MYF6	12	81101627	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	54292307	81101627	52750268	75	7055											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20222662	20222663	+	Splice_Site	INS	-	-	T													gagccaaaaggattaaagagINStgagtgtaaatattaacgtt							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:20222662_20222663insT	ENST00000361479.5	+	4	1386		c.e4+1		MPHOSPH8_ENST00000414242.2_Splice_Site	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8						cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GGATTAAAGAGTGAGTGTAAAT	0.272													False	1	True	13:20222662	0	T	20222663	-	T	20222662	8	5	81	1	0	1	1	0	0	0	1	0	9794	1043	36	0	1333	0	MPHOSPH8	13	20222662	Splice_Site	INS	-	TCGA-HZ-A8P1-01A-11D-A377-08		20222662	94947216	76	7056											
TRPC4	7223	broad.mit.edu	37	chr13	38320594	38320594	+	Splice_Site	DEL	T	T	-													caaggagtataggaggcaccTaaaaaaaaaaaaggcagagg					rs80164537		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:38320594delT	ENST00000379705.3	-	3	1236		c.e3-2		TRPC4_ENST00000355779.2_Splice_Site|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379673.2_Splice_Site|TRPC4_ENST00000426868.2_Splice_Site|TRPC4_ENST00000358477.2_Splice_Site|TRPC4_ENST00000379681.3_Splice_Site|TRPC4_ENST00000447043.1_Splice_Site			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4						axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGGAGGCACCTAAAAAAAAAA	0.338													False	1	True	13:38320594	0	-	38320594	T	-	38320594	8	5	81	1	0	1	0	1	0	0	1	0	16663	1536	53	0	2607	0	TRPC4	13	38320594	Splice_Site	DEL	T	TCGA-HZ-A8P1-01A-11D-A377-08	18097932	38320594	76849284	77	7057											
UGGT2	55757	broad.mit.edu	37	chr13	96675949	96675949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaactttaaaaggttgatGtgtaaattgtctagaaactg	9	4	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:96675949G>A	ENST00000376747.3	-	3	376	c.306C>T	c.(304-306)caC>caT	p.H102H	UGGT2_ENST00000376712.4_Silent_p.H102H|UGGT2_ENST00000376714.3_Silent_p.H102H|UGGT2_ENST00000397618.3_Silent_p.H102H	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	102					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AAAGGTTGATGTGTAAATTGT	0.328													False	0	False	13:96675949	0	A	96675949	G	A	96675949	2	1	81	1	0	0	0	0	0	0	0	1	17026	1368	48	2		2	UGGT2	13	96675949	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	58355355	96675949	18493929	78	7058											
IPO5	3843	broad.mit.edu	37	chr13	98666315	98666315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgttcgagtggcagcagcGgaatccatgcctcttctcct	11	13	2	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:98666315G>A	ENST00000261574.5	+	22	2406	c.2226G>A	c.(2224-2226)gcG>gcA	p.A742A	IPO5_ENST00000490680.1_Silent_p.A724A|IPO5_ENST00000539640.1_Silent_p.A599A	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	724					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	p.A742A(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGGCAGCAGCGGAATCCATGC	0.428													False	0	False	13:98666315	0	A	98666315	G	A	98666315	2	1	81	1	0	0	0	0	0	0	0	1	7846	1103	39	1		1	IPO5	13	98666315	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	1990366	98666315	16503563	79	7059											
MCF2L	23263	broad.mit.edu	37	chr13	113742040	113742040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggctgccgttggcattaCggagaacgtgaagggagatg	17	6	0	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:113742040C>T	ENST00000397030.1	+	23	2751	c.2714C>T	c.(2713-2715)aCg>aTg	p.T905M	MCF2L_ENST00000375597.4_Missense_Mutation_p.T870M|MCF2L_ENST00000442652.2_Missense_Mutation_p.T902M|MCF2L_ENST00000434480.2_Missense_Mutation_p.T878M|MCF2L_ENST00000423482.2_Missense_Mutation_p.T870M|MCF2L_ENST00000375601.3_Missense_Mutation_p.T876M|MCF2L_ENST00000375604.2_Missense_Mutation_p.T929M|MCF2L_ENST00000421756.1_Missense_Mutation_p.T876M|MCF2L_ENST00000375608.3_Missense_Mutation_p.T902M|MCF2L_ENST00000535094.2_Missense_Mutation_p.T872M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	902	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GTTGGCATTACGGAGAACGTG	0.577													False	0	False	13:113742040	0	T	113742040	C	T	113742040	3	4	81	1	0	0	0	0	1	0	0	0	9446	536	19	1	2971	1	MCF2L	13	113742040	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	15075725	113742040	1427838	80	7060											
NYNRIN	57523	broad.mit.edu	37	chr14	24868592	24868593	+	Frame_Shift_Del	DEL	AC	AC	-													cgccttccagagccgcccggAcaccccctacttctggctac							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:24868592_24868593delAC	ENST00000382554.3	+	2	458_459	c.140_141delAC	c.(139-141)gacfs	p.D47fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	47					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCCGCCCGGACACCCCCTACT	0.604													False	2	False	14:24868592	0	-	24868593	AC	-	24868592	7	5	81	1	0	1	0	1	0	0	0	0	10864	275	10	0	142	0	NYNRIN	14	24868592	Frame_Shift_Del	DEL	AC	TCGA-HZ-A8P1-01A-11D-A377-08		24868592	82480948	81	7061											
SAMD4A	23034	broad.mit.edu	37	chr14	55226887	55226887	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcaccgtccaggacatcatCgaggggggcagcctgcgcat	13	14	2	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:55226887C>T	ENST00000251091.5	+	5	1226	c.921C>T	c.(919-921)atC>atT	p.I307I	SAMD4A_ENST00000554335.1_Silent_p.I395I|SAMD4A_ENST00000392067.3_Silent_p.I395I|SAMD4A_ENST00000357634.3_Silent_p.I394I|SAMD4A_ENST00000555192.1_5'UTR	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	395					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.I394I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AGGACATCATCGAGGGGGGCA	0.632													False	0	False	14:55226887	0	T	55226887	C	T	55226887	2	4	81	1	0	0	0	0	0	0	0	1	13900	874	31	1		1	SAMD4A	14	55226887	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	30358295	55226887	52122653	82	7062											
GABRG3	2567	broad.mit.edu	37	chr15	27777959	27777959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctggactcgtactccCgggtctttttccccacgtcc	10	15	1	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:27777959C>T	ENST00000333743.6	+	10	1590	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	446					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CTCGTACTCCCGGGTCTTTTT	0.473													False	0	True	15:27777959	0	T	27777959	C	T	27777959	3	4	81	1	0	0	0	0	1	0	0	0	6215	643	23	1	1374	1	GABRG3	15	27777959	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08		27777959	74753433	83	7063											
ZSCAN2	54993	broad.mit.edu	37	chr15	85147523	85147523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagcagtgaggaggcagCggccctggtggaagacttga	17	7	0	4	rs142869560		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:85147523C>T	ENST00000448803.2	+	2	657	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ZSCAN2_ENST00000379358.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.A122V|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.A122V|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.A122V	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	122	SCAN box.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GAGGAGGCAGCGGCCCTGGTG	0.567													False	0	False	15:85147523	0	T	85147523	C	T	85147523	3	4	81	1	0	0	0	0	1	0	0	0	18313	768	27	1	367	1	ZSCAN2	15	85147523	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	57369564	85147523	17383869	84	7064											
ANKS3	124401	broad.mit.edu	37	chr16	4752111	4752111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcacgtaccccgactgCtgctgctgctgctgctctcc	12	16	1	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:4752111C>T	ENST00000304283.4	-	9	1295	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N	ANKS3_ENST00000585773.1_Missense_Mutation_p.S261N|ANKS3_ENST00000450067.2_Missense_Mutation_p.S128N|ANKS3_ENST00000446014.2_Missense_Mutation_p.S205N	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	334	Ser-rich.									endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ACCCCGActgctgctgctgct	0.662													False	0	True	16:4752111	0	T	4752111	C	T	4752111	3	4	81	1	0	0	0	0	1	0	0	0	690	797	28	2	1005	2	ANKS3	16	4752111	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08		4752111	85602642	85	7065											
BBS2	583	broad.mit.edu	37	chr16	56535366	56535366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtattggctgggattatgCcccgatgcccatcagcctcg	12	12	1	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:56535366C>T	ENST00000245157.5	-	10	1544	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D	BBS2_ENST00000568104.1_Missense_Mutation_p.G375D	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	375					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGGGATTATGCCCCGATGCCC	0.498									Bardet-Biedl syndrome				False	0	True	16:56535366	0	T	56535366	C	T	56535366	3	4	81	1	0	0	0	0	1	0	0	0	1342	739	26	2	1073	2	BBS2	16	56535366	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	51783255	56535366	33819387	86	7066											
DEF8	54849	broad.mit.edu	37	chr16	90027351	90027351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccctagggtgttattaccGctgtcacagtaagtgcttga	10	10	1	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:90027351G>T	ENST00000563594.1	+	7	1524	c.527G>T	c.(526-528)cGc>cTc	p.R176L	DEF8_ENST00000563795.1_Missense_Mutation_p.R176L|DEF8_ENST00000570182.1_Missense_Mutation_p.R166L|DEF8_ENST00000567874.1_Missense_Mutation_p.R116L|DEF8_ENST00000569453.1_Missense_Mutation_p.R176L|DEF8_ENST00000268676.7_Missense_Mutation_p.R237L|DEF8_ENST00000563848.1_3'UTR	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	237					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TGTTATTACCGCTGTCACAGT	0.582													False	0	False	16:90027351	0	T	90027351	G	T	90027351	3	4	81	1	0	0	0	0	1	0	0	0	4412	1087	38	3	812	3	DEF8	16	90027351	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	33491985	90027351	327402	87	7067											
PRPF8	10594	broad.mit.edu	37	chr17	1577065	1577065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatcatgtttcatgaggcGcatgcgggcatctcggggcc	13	11	3	1			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:1577065G>A	ENST00000572621.1	-	21	3686	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1141						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCATGAGGCGCATGCGGGCA	0.517													False	0	False	17:1577065	0	A	1577065	G	A	1577065	3	1	81	1	0	0	0	0	1	0	0	0	12651	1087	38	1	3674	1	PRPF8	17	1577065	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08		1577065	79618145	88	7068											
MYH2	4620	broad.mit.edu	37	chr17	10433385	10433385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgcatcagccaagccttCggcttccttaagttggaaac	8	13	2	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:10433385C>T	ENST00000245503.5	-	23	3088	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E902K|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	902					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCAAGCCTTCGGCTTCCTTA	0.393													False	0	False	17:10433385	0	T	10433385	C	T	10433385	3	4	81	1	0	0	0	0	1	0	0	0	10102	893	31	1	3193	1	MYH2	17	10433385	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	8856320	10433385	70761825	89	7069											
CDC37	11140	broad.mit.edu	37	chr19	10506629	10506629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagccgtctttgctgagcGtgtccacgttccagggcatg	13	11	1	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:10506629G>A	ENST00000222005.2	-	2	406	c.353C>T	c.(352-354)aCg>aTg	p.T118M		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	118					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TTTGCTGAGCGTGTCCACGTT	0.662													False	0	False	19:10506629	0	A	10506629	G	A	10506629	3	1	81	1	0	0	0	0	1	0	0	0	3091	1145	40	1	811	1	CDC37	19	10506629	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08		10506629	48622354	90	7070											
OR10H4	126541	broad.mit.edu	37	chr19	16060573	16060573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcactgtggtggtcacGcactatagttttgcctcctt	8	13	2	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:16060573G>A	ENST00000322107.1	+	1	756	c.756G>A	c.(754-756)acG>acA	p.T252T		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGGTGGTCACGCACTATAGTT	0.517													False	0	False	19:16060573	0	A	16060573	G	A	16060573	2	1	81	1	0	0	0	0	0	0	0	1	10976	1074	38	1		1	OR10H4	19	16060573	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	5553944	16060573	43068410	91	7071											
ZNF780A	284323	broad.mit.edu	37	chr19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacattcatatggttttaCaccagaatgaatactctgat	5	8	2	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:40581529C>T	ENST00000450241.2	-	6	1029	c.718G>A	c.(718-720)Gta>Ata	p.V240I	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I			O75290	Z780A_HUMAN	zinc finger protein 780A	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTACACCAGAATGA	0.388													False	0	False	19:40581529	0	T	40581529	C	T	40581529	3	4	81	1	0	0	0	0	1	0	0	0	18234	478	17	2	1236	2	ZNF780A	19	40581529	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	24520956	40581529	18547454	92	7072											
PPP2R1A	5518	broad.mit.edu	37	chr19	52724361	52724361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccccaactacctgcaccGcatgactacgctcttctgca	6	17	2	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:52724361G>A	ENST00000322088.6	+	12	1551	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R443H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R319H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	498	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TACCTGCACCGCATGACTACG	0.572			Mis		clear cell ovarian carcinoma								False	0	False	19:52724361	0	A	52724361	G	A	52724361	3	1	81	1	0	0	0	0	1	0	0	0	12456	1087	38	1	1539	1	PPP2R1A	19	52724361	Missense_Mutation	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	12142832	52724361	6404622	93	7073											
ZNF761	388561	broad.mit.edu	37	chr19	53960395	53960395	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccgtcaggcaatccatgGtgtagggaaactttactaag	10	8	1	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:53960395G>A	ENST00000454407.1	+	0	3087							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GCAATCCATGGTGTAGGGAAA	0.413													False	0	False	19:53960395	0	A	53960395	G	A	53960395	1	1	81	0	1	0	0	0	0	0	0	0	18218	1276	44	2		2	ZNF761	19	53960395	RNA	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	1236034	53960395	5168588	94	7074											
ZSCAN1	284312	broad.mit.edu	37	chr19	58549369	58549369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcgggccgcacctcgcGctgggccagctctggacgct	16	16	1	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:58549369G>A	ENST00000282326.1	+	3	412	c.165G>A	c.(163-165)gcG>gcA	p.A55A	ZSCAN1_ENST00000391700.1_Silent_p.A55A|ZSCAN1_ENST00000601162.1_Silent_p.A55A	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	55	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCACCTCGCGCTGGGCCAGC	0.706													False	0	False	19:58549369	0	A	58549369	G	A	58549369	2	1	81	1	0	0	0	0	0	0	0	1	18308	1074	38	1		1	ZSCAN1	19	58549369	Silent	SNP	G	TCGA-HZ-A8P1-01A-11D-A377-08	4588974	58549369	579614	95	7075											
SAMSN1	64092	broad.mit.edu	37	chr21	15889230	15889230	+	Frame_Shift_Del	DEL	C	C	-													taccttttcctcagaaagggCtttgatgtactttttaccca							TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:15889230delC	ENST00000285670.2	-	4	640	c.466delG	c.(466-468)gccfs	p.A156fs	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Frame_Shift_Del_p.A88fs	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	88					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCAGAAAGGGCTTTGATGTAC	0.318													False	1	True	21:15889230	0	-	15889230	C	-	15889230	7	5	81	1	0	1	0	1	0	0	0	0	13909	797	28	0	883	0	SAMSN1	21	15889230	Frame_Shift_Del	DEL	C	TCGA-HZ-A8P1-01A-11D-A377-08		15889230	32240665	96	7076											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654689	31654689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatataacataatggtgagaCgtagctgggtatgaagcaag	12	4	0	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:31654689C>T	ENST00000340345.4	-	1	587	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	188						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AATGGTGAGACGTAGCTGGGT	0.418													False	0	False	21:31654689	0	T	31654689	C	T	31654689	3	4	81	1	0	0	0	0	1	0	0	0	8593	536	19	1	206	1	KRTAP24-1	21	31654689	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	15765459	31654689	16475206	97	7077											
PLCXD1	55344	broad.mit.edu	37	chrX	215966	215966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagacggcttcgtcagtgaCgtcatcgcgctcaatcagaa	11	12	4	3			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:215966C>T	ENST00000381657.2	+	7	1450	c.936C>T	c.(934-936)gaC>gaT	p.D312D	PLCXD1_ENST00000399012.1_Silent_p.D312D|PLCXD1_ENST00000381663.3_Silent_p.D312D	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	312					intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCGTCAGTGACGTCATCGCGC	0.627													False	0	False	X:215966	0	T	215966	C	T	215966	2	4	81	1	0	0	0	0	0	0	0	1	12110	535	19	1		1	PLCXD1	23	215966	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08		215966	155054594	98	7078											
RPGR	6103	broad.mit.edu	37	chrX	38158301	38158301	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaagtcgccacagataAgcaagtatcatttatttcat	6	8	2	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:38158301A>G	ENST00000378505.2	-	10	1329	c.1153T>C	c.(1153-1155)Tta>Cta	p.L385L	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Silent_p.L385L|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Silent_p.L385L|RPGR_ENST00000318842.7_Silent_p.L385L|RPGR_ENST00000339363.3_Silent_p.L385L	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	385					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GCCACAGATAAGCAAGTATCA	0.448													False	0	False	X:38158301	0	G	38158301	A	G	38158301	2	3	81	1	0	0	0	0	0	0	0	1	13627	69	3	4		4	RPGR	23	38158301	Silent	SNP	A	TCGA-HZ-A8P1-01A-11D-A377-08	37942335	38158301	117112259	99	7079											
KIAA1210	57481	broad.mit.edu	37	chrX	118221146	118221146	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaggtacattcactgggccCtttgatgacatctgtggctg	11	10	2	2			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:118221146C>A	ENST00000402510.2	-	11	4046	c.4047G>T	c.(4045-4047)aaG>aaT	p.K1349N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1349										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCACTGGGCCCTTTGATGACA	0.473													False	0	True	X:118221146	0	A	118221146	C	A	118221146	3	1	81	1	0	0	0	0	1	0	0	0	8264	680	24	3	1098	3	KIAA1210	23	118221146	Missense_Mutation	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	80062845	118221146	37049414	100	7080											
GPR50	9248	broad.mit.edu	37	chrX	150349207	150349207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccgaccgtgcctctggCcaccctaagccccattccag	7	21	1	0			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:150349207C>T	ENST00000218316.3	+	2	1221	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	384	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCCTCTGGCCACCCTAAGC	0.587													False	0	False	X:150349207	0	T	150349207	C	T	150349207	2	4	81	1	0	0	0	0	0	0	0	1	6743	726	26	2		2	GPR50	23	150349207	Silent	SNP	C	TCGA-HZ-A8P1-01A-11D-A377-08	32128061	150349207	4921353	101	7081											
VPS13D	55187	broad.mit.edu	37	chr1	12364627	12364627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaggaaaacgacaagcaCggaggagcccaggggaaccc	14	11	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:12364627C>T	ENST00000358136.3	+	26	6411	c.6281C>T	c.(6280-6282)aCg>aTg	p.T2094M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T2094M	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2094					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACGACAAGCACGGAGGAGCCC	0.522													False	0	False	1:12364627	0	T	12364627	C	T	12364627	3	4	82	1	0	0	0	0	1	0	0	0	17276	536	19	1	6379	1	VPS13D	1	12364627	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		12364627	236885994	1	7082											
FCN3	8547	broad.mit.edu	37	chr1	27697110	27697110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgccctctgagaacttgCccagtgccagctggtagtgg	13	12	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:27697110C>T	ENST00000270879.4	-	7	640	c.635G>A	c.(634-636)gGc>gAc	p.G212D	FCN3_ENST00000354982.2_Missense_Mutation_p.G201D	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	212	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGAACTTGCCCAGTGCCAG	0.582													False	0	True	1:27697110	0	T	27697110	C	T	27697110	3	4	82	1	0	0	0	0	1	0	0	0	5833	739	26	2	272	2	FCN3	1	27697110	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	15332483	27697110	221553511	2	7083											
GPR3	2827	broad.mit.edu	37	chr1	27720926	27720926	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttcatggtgtttggcatCatgctgcagctctacgccca	9	12	4	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:27720926C>T	ENST00000374024.3	+	2	723	c.624C>T	c.(622-624)atC>atT	p.I208I		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	208					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TGTTTGGCATCATGCTGCAGC	0.577													False	0	False	1:27720926	0	T	27720926	C	T	27720926	2	4	82	1	0	0	0	0	0	0	0	1	6732	816	29	2		2	GPR3	1	27720926	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	23816	27720926	221529695	3	7084											
LRRC7	57554	broad.mit.edu	37	chr1	70257750	70257750	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaactgtcaagctctaCgaaaactaagtattcctgat	6	9	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:70257750C>T	ENST00000310961.5	+	5	647	c.229C>T	c.(229-231)Cga>Tga	p.R77*	LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R110*|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.R72*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	72						centrosome|focal adhesion|nucleolus	protein binding	p.R72G(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCAAGCTCTACGAAAACTAAG	0.294													False	0	False	1:70257750	0	T	70257750	C	T	70257750	4	4	82	1	0	0	0	0	0	1	0	0	9082	528	19	1	220	1	LRRC7	1	70257750	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	42536824	70257750	178992871	4	7085											
LRRC7	57554	broad.mit.edu	37	chr1	70541973	70541973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaaggagtatggatggatatCcagagcaggtgagaagtgtt	15	3	0	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:70541973C>A	ENST00000310961.5	+	24	4622	c.4204C>A	c.(4204-4206)Cca>Aca	p.P1402T	LRRC7_ENST00000415775.2_Missense_Mutation_p.P728T|LRRC7_ENST00000035383.5_Missense_Mutation_p.P1444T			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1444						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGATGGATATCCAGAGCAGGT	0.463													False	0	False	1:70541973	0	A	70541973	C	A	70541973	3	1	82	1	0	0	0	0	1	0	0	0	9082	855	30	3	4416	3	LRRC7	1	70541973	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	284223	70541973	178708648	5	7086											
TNNI3K	51086	broad.mit.edu	37	chr1	74905279	74905279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgggaaattctcactggcGaaattccattcgctcatctc	8	11	3	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:74905279G>A	ENST00000370891.2	+	22	2303	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E776K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E763K	NM_001112808.2	NP_001106279.2			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTCACTGGCGAAATTCCATT	0.438													False	0	True	1:74905279	0	A	74905279	G	A	74905279	3	1	82	1	0	0	0	0	1	0	0	0	16411	1059	37	1	2417	1	TNNI3K	1	74905279	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	4363306	74905279	174345342	6	7087											
COL11A1	1301	broad.mit.edu	37	chr1	103400665	103400665	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagacctgggggaccgggaGggccctgcagtgagataaaa	17	8	0	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:103400665G>C	ENST00000358392.2	-	45	3796	c.3479C>G	c.(3478-3480)cCt>cGt	p.P1160R	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1109R|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1148R|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1032R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1148	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGACCGGGAGGGCCCTGCAG	0.448													False	0	True	1:103400665	0	C	103400665	G	C	103400665	3	2	82	1	0	0	0	0	1	0	0	0	3690	1000	35	5	2069	5	COL11A1	1	103400665	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	28495386	103400665	145849956	7	7088											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	82	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-HZ-A9TJ-01A-11D-A40W-08	49270850	152671515	96579106	8	7089											
CENPF	1063	broad.mit.edu	37	chr1	214815002	214815002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagagttggagacagtgcaGcaagctctgagatctgagat	13	7	2	4			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:214815002G>A	ENST00000366955.3	+	12	3489	c.3321G>A	c.(3319-3321)caG>caA	p.Q1107Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1107					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGACAGTGCAGCAAGCTCTGA	0.373													False	0	False	1:214815002	0	A	214815002	G	A	214815002	2	1	82	1	0	0	0	0	0	0	0	1	3254	962	34	2		2	CENPF	1	214815002	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	62143487	214815002	34435619	9	7090											
TP53BP2	7159	broad.mit.edu	37	chr1	223986037	223986037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatattgaacttgctgccaCggtctggggttttctgaagg	12	7	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:223986037C>T	ENST00000391878.2	-	13	2209	c.1441G>A	c.(1441-1443)Gtg>Atg	p.V481M	TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.V610M	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	604					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTTGCTGCCACGGTCTGGGGT	0.527													False	0	False	1:223986037	0	T	223986037	C	T	223986037	3	4	82	1	0	0	0	0	1	0	0	0	16467	536	19	1	1604	1	TP53BP2	1	223986037	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	9171035	223986037	25264584	10	7091											
OR2M4	26245	broad.mit.edu	37	chr1	248403055	248403055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaggacaagatggtgtcGgccttctacactattctcac	9	12	2	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr1:248403055G>A	ENST00000306687.1	+	1	825	c.825G>A	c.(823-825)tcG>tcA	p.S275S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGATGGTGTCGGCCTTCTACA	0.488													False	0	False	1:248403055	0	A	248403055	G	A	248403055	2	1	82	1	0	0	0	0	0	0	0	1	11080	1103	39	1		1	OR2M4	1	248403055	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	24417018	248403055	847566	11	7092											
SOX11	6664	broad.mit.edu	37	chr2	5833216	5833216	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactacaagtaccggccccgGaaaaagcccaaaatggaccc	9	14	0	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:5833216G>A	ENST00000322002.3	+	1	418	c.363G>A	c.(361-363)cgG>cgA	p.R121R		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	121					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		ACCGGCCCCGGAAAAAGCCCA	0.692													False	0	True	2:5833216	0	A	5833216	G	A	5833216	2	1	82	1	0	0	0	0	0	0	0	1	15022	1161	41	2		2	SOX11	2	5833216	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08		5833216	237366157	12	7093											
OTOF	9381	broad.mit.edu	37	chr2	26689975	26689975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggcctgaccttgaagcGtcccacaatgcgctcctcct	8	17	0	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:26689975G>A	ENST00000272371.2	-	35	4480	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1452					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTTGAAGCGTCCCACAATG	0.642													False	0	False	2:26689975	0	A	26689975	G	A	26689975	3	1	82	1	0	0	0	0	1	0	0	0	11371	1145	40	1	1872	1	OTOF	2	26689975	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	20856759	26689975	216509398	13	7094											
PLEKHH2	130271	broad.mit.edu	37	chr2	43937444	43937444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggtttgttcttaaaggtgGtgaattactttactacaaat	9	4	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:43937444G>T	ENST00000282406.4	+	13	2299	c.2189G>T	c.(2188-2190)gGt>gTt	p.G730V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	730	PH 1.			G -> C (in Ref. 1; CAI46132).		cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTAAAGGTGGTGAATTACTT	0.363													False	0	False	2:43937444	0	T	43937444	G	T	43937444	3	4	82	1	0	0	0	0	1	0	0	0	12146	1261	44	3	2235	3	PLEKHH2	2	43937444	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	17247469	43937444	199261929	14	7095											
ABCG8	64241	broad.mit.edu	37	chr2	44102445	44102445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattatggccctggccgccgCggccctgctccccaccttcc	10	20	0	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:44102445C>T	ENST00000272286.2	+	11	1739	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	550	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGGCCGCCGCGGCCCTGCTC	0.617													False	0	False	2:44102445	0	T	44102445	C	T	44102445	3	4	82	1	0	0	0	0	1	0	0	0	72	768	27	1	1691	1	ABCG8	2	44102445	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	165001	44102445	199096928	15	7096											
PSME4	23198	broad.mit.edu	37	chr2	54133825	54133825	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaccctcaacagttagtgtCcgtagctaagaaaacaatcg	7	11	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:54133825C>T	ENST00000404125.1	-	26	2908	c.2853G>A	c.(2851-2853)cgG>cgA	p.R951R	PSME4_ENST00000421748.2_Silent_p.R95R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	951					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAGTTAGTGTCCGTAGCTAAG	0.308													False	0	False	2:54133825	0	T	54133825	C	T	54133825	2	4	82	1	0	0	0	0	0	0	0	1	12785	842	30	2		2	PSME4	2	54133825	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	10031380	54133825	189065548	16	7097											
CCDC104	112942	broad.mit.edu	37	chr2	55772051	55772052	+	Frame_Shift_Del	DEL	AG	AG	-													tttttttttcaggaaatgacAgagaaaccagaaatgacagc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:55772051_55772052delAG	ENST00000349456.4	+	10	1084_1085	c.936_937delAG	c.(934-939)acagagfs	p.E313fs	CCDC104_ENST00000339012.3_Frame_Shift_Del_p.E338fs|CCDC104_ENST00000407816.3_Frame_Shift_Del_p.E284fs			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	313										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGAAATGACAGAGAAACCAGA	0.332													False	2	False	2:55772051	0	-	55772052	AG	-	55772051	7	5	82	1	0	1	0	1	0	0	0	0	2759	175	7	0	974	0	CCDC104	2	55772051	Frame_Shift_Del	DEL	AG	TCGA-HZ-A9TJ-01A-11D-A40W-08	1638226	55772051	187427322	17	7098											
ZNF638	27332	broad.mit.edu	37	chr2	71629120	71629120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgatgcttgtctctaAtttgcctaataaaggatatt	9	5	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:71629120A>G	ENST00000409544.1	+	16	3362	c.2732A>G	c.(2731-2733)aAt>aGt	p.N911S	ZNF638_ENST00000264447.4_Missense_Mutation_p.N911S|ZNF638_ENST00000355812.3_Missense_Mutation_p.N911S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	911	RRM 2.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTTGTCTCTAATTTGCCTAAT	0.269													False	0	True	2:71629120	0	G	71629120	A	G	71629120	3	3	82	1	0	0	0	0	1	0	0	0	18138	101	4	4	2790	4	ZNF638	2	71629120	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	15857069	71629120	171570253	18	7099											
CD8B	926	broad.mit.edu	37	chr2	87085345	87085345	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccacctcttcaccgtggaTagtcccttttgcggaatccc	7	15	2	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:87085345T>G	ENST00000390655.6	-	2	296	c.238A>C	c.(238-240)Atc>Ctc	p.I80L	CD8B_ENST00000349455.3_Missense_Mutation_p.I80L|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.I80L|CD8B_ENST00000393761.2_Missense_Mutation_p.I80L|CD8B_ENST00000331469.2_Missense_Mutation_p.I80L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	80	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TCACCGTGGATAGTCCCTTTT	0.552													False	0	False	2:87085345	0	G	87085345	T	G	87085345	3	3	82	1	0	0	0	0	1	0	0	0	3068	1406	49	4	688	4	CD8B	2	87085345	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	15456225	87085345	156114028	19	7100											
SLC9A2	6549	broad.mit.edu	37	chr2	103299834	103299835	+	In_Frame_Ins	INS	-	-	ATCTTC													gcagtgtcagcgaaaccttgINSatcttcatcttcatgggtgt							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:103299834_103299835insATCTTC	ENST00000233969.2	+	4	1261_1262	c.1119_1120insATCTTC	c.(1120-1122)atc>ATCTTCatc	p.374_374I>IFI		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	374						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCGAAACCTTGATCTTCATCTT	0.485													False	1	False	2:103299834	0	ATCTTC	103299835	-	ATCTTC	103299834	7	5	82	1	0	1	1	0	0	0	0	0	14792	1281	45	0	1133	0	SLC9A2	2	103299834	In_Frame_Ins	INS	-	TCGA-HZ-A9TJ-01A-11D-A40W-08	16214489	103299834	139899539	20	7101											
GLI2	2736	broad.mit.edu	37	chr2	121742187	121742187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgcacctccgcacaccGctgctcaaagagaatgggga	12	13	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:121742187G>A	ENST00000452319.1	+	12	1884	c.1824G>A	c.(1822-1824)ccG>ccA	p.P608P	GLI2_ENST00000314490.11_Silent_p.P280P|GLI2_ENST00000361492.4_Silent_p.P608P|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	608					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCGCACACCGCTGCTCAAAG	0.652													False	0	False	2:121742187	0	A	121742187	G	A	121742187	2	1	82	1	0	0	0	0	0	0	0	1	6483	1074	38	1		1	GLI2	2	121742187	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	18442353	121742187	121457186	21	7102											
NCKAP5	344148	broad.mit.edu	37	chr2	133540781	133540781	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatttctttcacccgctgtGatctccatgcttgctggatt	7	12	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:133540781G>A	ENST00000409261.1	-	14	3976	c.3603C>T	c.(3601-3603)atC>atT	p.I1201I	NCKAP5_ENST00000317721.6_Silent_p.I1201I|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1201							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CACCCGCTGTGATCTCCATGC	0.478													False	0	False	2:133540781	0	A	133540781	G	A	133540781	2	1	82	1	0	0	0	0	0	0	0	1	10291	1280	45	2		2	NCKAP5	2	133540781	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	11798594	133540781	109658592	22	7103											
THSD7B	80731	broad.mit.edu	37	chr2	138400061	138400061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcccttatcattttaggtcGaatgagccggactcgattta	8	10	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:138400061G>A	ENST00000409968.1	+	21	3981	c.3803G>A	c.(3802-3804)cGa>cAa	p.R1268Q	THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTTTAGGTCGAATGAGCCGG	0.478													False	0	False	2:138400061	0	A	138400061	G	A	138400061	3	1	82	1	0	0	0	0	1	0	0	0	15962	1058	37	1	3793	1	THSD7B	2	138400061	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	4859280	138400061	104799312	23	7104											
TTN	7273	broad.mit.edu	37	chr2	179397543	179397543	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcacatagaactgttccCatcttgaaaggcggatgcgc	10	11	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:179397543C>T	ENST00000589042.1	-	358	104023	c.103799G>A	c.(103798-103800)tGg>tAg	p.W34600*	TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25727*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W32959*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W32032*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25660*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25535*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32959							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACTGTTCCCATCTTGAAAG	0.428													False	0	True	2:179397543	0	T	179397543	C	T	179397543	4	4	82	1	0	0	0	0	0	1	0	0	16819	595	21	2	4200	2	TTN	2	179397543	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	40997482	179397543	63801830	24	7105											
PID1	55022	broad.mit.edu	37	chr2	229890591	229890591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcacgttgtggtcggcGgtgcagtaggcgatgcgggc	20	9	1	0	rs139231184	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:229890591G>A	ENST00000392054.3	-	4	843	c.504C>T	c.(502-504)acC>acT	p.T168T	PID1_ENST00000354069.6_Silent_p.T170T|PID1_ENST00000409462.1_Silent_p.T88T|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Silent_p.T137T	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	170	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGTGGTCGGCGGTGCAGTAGG	0.582													False	0	False	2:229890591	0	A	229890591	G	A	229890591	2	1	82	1	0	0	0	0	0	0	0	1	11951	1103	39	1		1	PID1	2	229890591	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	50493048	229890591	13308782	25	7106											
HES6	55502	broad.mit.edu	37	chr2	239147781	239147785	+	Frame_Shift_Del	DEL	ACGGT	ACGGT	-													ggttcaggagctcggcagcgAcggtagcgtcgatggcctgg							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	ACGGT	ACGGT	-	-	ACGGT	ACGGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:239147781_239147785delACGGT	ENST00000409160.3	-	3	725_729	c.593_597delACCGT	c.(592-597)taccgtfs	p.YR198fs	HES6_ENST00000272937.5_Frame_Shift_Del_p.TV120fs|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409182.1_Frame_Shift_Del_p.TV91fs|HES6_ENST00000409574.1_Frame_Shift_Del_p.PS107fs|HES6_ENST00000409002.3_Frame_Shift_Del_p.TV118fs	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	Q96HZ4	HES6_HUMAN	hes family bHLH transcription factor 6	0					cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CTCGGCAGCGACGGTAGCGTCGATG	0.668													False	1	False	2:239147781	0	-	239147785	ACGGT	-	239147781	7	5	82	1	0	1	0	1	0	0	0	0	7117	275	10	0	316	0	HES6	2	239147781	Frame_Shift_Del	DEL	ACGGT	TCGA-HZ-A9TJ-01A-11D-A40W-08	9257190	239147781	4051592	26	7107											
PER2	8864	broad.mit.edu	37	chr2	239185809	239185809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggttgtgttcagattttgCcatcatcaggctaaaggtat	11	6	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:239185809C>T	ENST00000254657.3	-	3	535	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PER2_ENST00000254658.3_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000440245.1_Missense_Mutation_p.A86T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	86					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.A86T(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCAGATTTTGCCATCATCAGG	0.383													False	0	False	2:239185809	0	T	239185809	C	T	239185809	3	4	82	1	0	0	0	0	1	0	0	0	11798	739	26	2	3595	2	PER2	2	239185809	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	38028	239185809	4013564	27	7108											
KIF1A	547	broad.mit.edu	37	chr2	241700765	241700776	+	In_Frame_Del	DEL	CCAGCTCACACT	CCAGCTCACACT	-													cttccggaaggcccagagcgCcagctcacactcccgctctg							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	CCAGCTCACACT	CCAGCTCACACT	-	-	CCAGCTCACACT	CCAGCTCACACT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:241700765_241700776delCCAGCTCACACT	ENST00000320389.7	-	23	2266_2277	c.2108_2119delAGTGTGAGCTGG	c.(2107-2121)gagtgtgagctggcg>gcg	p.ECEL703del	KIF1A_ENST00000498729.2_In_Frame_Del_p.ECEL712del	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	703					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCCCAGAGCGCCAGCTCACACTCCCGCTCTGT	0.632													False	1	False	2:241700765	0	-	241700776	CCAGCTCACACT	-	241700765	7	5	82	1	0	1	0	1	0	0	0	0	8333	739	26	0	3053	0	KIF1A	2	241700765	In_Frame_Del	DEL	CCAGCTCACACT	TCGA-HZ-A9TJ-01A-11D-A40W-08	2514956	241700765	1498608	28	7109											
FARP2	9855	broad.mit.edu	37	chr2	242312551	242312551	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatagaaggaacatacagagTcctgcagactgcagggatgc	13	8	0	3			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:242312551T>A	ENST00000264042.3	+	2	199	c.29T>A	c.(28-30)gTc>gAc	p.V10D	FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000545004.1_Missense_Mutation_p.V10D|FARP2_ENST00000373287.4_Missense_Mutation_p.V10D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	10					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACATACAGAGTCCTGCAGACT	0.463													False	0	False	2:242312551	0	A	242312551	T	A	242312551	3	1	82	1	0	0	0	0	1	0	0	0	5717	1667	58	5	31	5	FARP2	2	242312551	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	611786	242312551	886822	29	7110											
FARP2	9855	broad.mit.edu	37	chr2	242373703	242373703	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taagccaaaagcaaaagccgTcttcttcagccggggctcct	9	13	3	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr2:242373703T>A	ENST00000264042.3	+	10	1168	c.998T>A	c.(997-999)gTc>gAc	p.V333D	FARP2_ENST00000545004.1_Missense_Mutation_p.V333D|FARP2_ENST00000373287.4_Missense_Mutation_p.V333D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	333					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCAAAAGCCGTCTTCTTCAGC	0.468													False	0	False	2:242373703	0	A	242373703	T	A	242373703	3	1	82	1	0	0	0	0	1	0	0	0	5717	1667	58	5	1032	5	FARP2	2	242373703	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	61152	242373703	825670	30	7111											
SLC6A1	6529	broad.mit.edu	37	chr3	11067497	11067497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagatcttcttctcataCgggctgggcctggggtccct	11	14	3	1	rs144034291		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:11067497C>T	ENST00000287766.4	+	9	1309	c.888C>T	c.(886-888)taC>taT	p.Y296Y	SLC6A1_ENST00000536032.1_Silent_p.Y118Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	296					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCTTCTCATACGGGCTGGGCC	0.532													False	0	True	3:11067497	0	T	11067497	C	T	11067497	2	4	82	1	0	0	0	0	0	0	0	1	14753	547	19	1		1	SLC6A1	3	11067497	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		11067497	186954933	31	7112											
EXOG	9941	broad.mit.edu	37	chr3	38539118	38539118	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttttcatttttAggatctgcagaaaaggctgt	7	4	2	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:38539118A>T	ENST00000287675.5	+	2	259		c.e2-1		EXOG_ENST00000422077.2_Intron|EXOG_ENST00000358249.2_Splice_Site	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like							mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TTTCATTTTTAGGATCTGCAG	0.373													False	0	True	3:38539118	0	T	38539118	A	T	38539118	5	4	82	1	0	0	0	0	0	0	1	0	5344	434	15	5	168	5	EXOG	3	38539118	Splice_Site	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	27471621	38539118	159483312	32	7113											
PLXNB1	5364	broad.mit.edu	37	chr3	48456620	48456620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggtccaagggaacatgCcgtctccgggaccacgcgac	15	13	1	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:48456620C>T	ENST00000358536.4	-	20	4200	c.3931G>A	c.(3931-3933)Gca>Aca	p.A1311T	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_Splice_Site|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A1128T|PLXNB1_ENST00000296440.6_Missense_Mutation_p.A1311T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A1128T	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1311	IPT/TIG 3.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGAACATGCCGTCTCCGGG	0.647													False	0	False	3:48456620	0	T	48456620	C	T	48456620	3	4	82	1	0	0	0	0	1	0	0	0	12192	739	26	2	2552	2	PLXNB1	3	48456620	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	9917502	48456620	149565810	33	7114											
PFKFB4	5210	broad.mit.edu	37	chr3	48563059	48563059	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagggcgaactccagtggaTaattatcctgaatttcctcg	10	10	0	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:48563059T>A	ENST00000232375.3	-	10	1143	c.1031A>T	c.(1030-1032)tAt>tTt	p.Y344F	PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y310F|PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y337F|PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y333F|PFKFB4_ENST00000545984.1_3'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	344	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTCCAGTGGATAATTATCCTG	0.557													False	0	False	3:48563059	0	A	48563059	T	A	48563059	3	1	82	1	0	0	0	0	1	0	0	0	11832	1406	49	5	398	5	PFKFB4	3	48563059	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	106439	48563059	149459371	34	7115											
UBA7	7318	broad.mit.edu	37	chr3	49842859	49842859	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgtcagctgctgaaccAgttctgtcaccctggtaggg	13	12	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:49842859A>T	ENST00000333486.3	-	24	3079	c.2921T>A	c.(2920-2922)cTg>cAg	p.L974Q		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	974					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGCTGAACCAGTTCTGTCAC	0.617													False	0	False	3:49842859	0	T	49842859	A	T	49842859	3	4	82	1	0	0	0	0	1	0	0	0	16917	188	7	5	121	5	UBA7	3	49842859	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	1279800	49842859	148179571	35	7116											
CADM2	253559	broad.mit.edu	37	chr3	85961592	85961592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcagcacactggacttccGagtggaccggagtgatgatg	14	10	0	2	rs150681488		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:85961592G>A	ENST00000383699.3	+	6	1226	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	CADM2_ENST00000405615.2_Missense_Mutation_p.R193Q|CADM2_ENST00000407528.2_Missense_Mutation_p.R191Q	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	191	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGGACTTCCGAGTGGACCGG	0.433													False	0	False	3:85961592	0	A	85961592	G	A	85961592	3	1	82	1	0	0	0	0	1	0	0	0	2587	1058	37	1	661	1	CADM2	3	85961592	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	36118733	85961592	112060838	36	7117											
ALCAM	214	broad.mit.edu	37	chr3	105290748	105290748	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaatatggaagaaaacaaaAagttagaagaaaacaatcac	7	4	1	3			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:105290748A>G	ENST00000306107.5	+	15	2217	c.1717A>G	c.(1717-1719)Aag>Gag	p.K573E	ALCAM_ENST00000486979.2_Missense_Mutation_p.K522E|ALCAM_ENST00000389927.4_Missense_Mutation_p.K295E|ALCAM_ENST00000472644.2_Missense_Mutation_p.K560E	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	573					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AGAAAACAAAAAGTTAGAAGA	0.353													False	0	True	3:105290748	0	G	105290748	A	G	105290748	3	3	82	1	0	0	0	0	1	0	0	0	487	15	1	4	1775	4	ALCAM	3	105290748	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	19329156	105290748	92731682	37	7118											
BFSP2	8419	broad.mit.edu	37	chr3	133119141	133119141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcataggtggcttgggtgccCgtgtgacccgccgggccctc	16	14	0	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:133119141C>T	ENST00000302334.2	+	1	303	c.214C>T	c.(214-216)Cgt>Tgt	p.R72C		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	72	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTTGGGTGCCCGTGTGACCCG	0.667													False	0	True	3:133119141	0	T	133119141	C	T	133119141	3	4	82	1	0	0	0	0	1	0	0	0	1421	652	23	1	216	1	BFSP2	3	133119141	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	27828393	133119141	64903289	38	7119											
SLC9A9	285195	broad.mit.edu	37	chr3	143100949	143100949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattttcatccaggtccaCgccaactctgttaaacaaaa	5	12	2	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:143100949C>T	ENST00000316549.6	-	13	1685	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	493					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGGTCCACGCCAACTCTG	0.438													False	0	False	3:143100949	0	T	143100949	C	T	143100949	3	4	82	1	0	0	0	0	1	0	0	0	14801	536	19	1	476	1	SLC9A9	3	143100949	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	9981808	143100949	54921481	39	7120											
MCF2L2	23101	broad.mit.edu	37	chr3	183017842	183017842	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actttcctaaaatgtcccatTttttcttgtttccattgatg	4	9	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr3:183017842T>A	ENST00000328913.3	-	11	1553	c.1256A>T	c.(1255-1257)aAa>aTa	p.K419I	MCF2L2_ENST00000414362.2_Missense_Mutation_p.K419I|MCF2L2_ENST00000473233.1_Missense_Mutation_p.K419I|MCF2L2_ENST00000447025.2_Missense_Mutation_p.K419I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	419					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AATGTCCCATTTTTTCTTGTT	0.458													False	0	True	3:183017842	0	A	183017842	T	A	183017842	3	1	82	1	0	0	0	0	1	0	0	0	9447	1841	64	5	2168	5	MCF2L2	3	183017842	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	39916893	183017842	15004588	40	7121											
LRBA	987	broad.mit.edu	37	chr4	151738335	151738335	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactgaggaaaccacactgAcagcattggtaggtatgctt	10	9	0	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr4:151738335A>G	ENST00000535741.1	-	31	5719	c.5246T>C	c.(5245-5247)gTc>gCc	p.V1749A	LRBA_ENST00000507224.1_Missense_Mutation_p.V1749A|LRBA_ENST00000510413.1_Missense_Mutation_p.V1749A|LRBA_ENST00000357115.3_Missense_Mutation_p.V1749A			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1749						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AACCACACTGACAGCATTGGT	0.398													False	0	False	4:151738335	0	G	151738335	A	G	151738335	3	3	82	1	0	0	0	0	1	0	0	0	8993	275	10	4	3457	4	LRBA	4	151738335	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08		151738335	39415941	41	7122											
C5orf42	65250	broad.mit.edu	37	chr5	37187926	37187926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcatccaacacagagcaCaaagttctctgaagcaacct	7	13	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:37187926C>A	ENST00000274258.7	-	22	4060	c.473G>T	c.(472-474)tGt>tTt	p.C158F	C5orf42_ENST00000508244.1_Missense_Mutation_p.C1277F|C5orf42_ENST00000425232.2_Missense_Mutation_p.C1277F			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1277										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACACAGAGCACAAAGTTCTCT	0.358													False	0	True	5:37187926	0	A	37187926	C	A	37187926	3	1	82	1	0	0	0	0	1	0	0	0	2318	478	17	3	5887	3	C5orf42	5	37187926	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		37187926	143727334	42	7123											
HCN1	348980	broad.mit.edu	37	chr5	45262241	45262241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttccggggaccgccgtcaCgggttgagggatggaggcca	18	11	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:45262241C>T	ENST00000303230.4	-	8	2512	c.2455G>A	c.(2455-2457)Gtg>Atg	p.V819M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	819						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCGCCGTCACGGGTTGAGGG	0.677													False	0	True	5:45262241	0	T	45262241	C	T	45262241	3	4	82	1	0	0	0	0	1	0	0	0	7043	536	19	1	221	1	HCN1	5	45262241	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	8074315	45262241	135653019	43	7124											
SLC12A2	6558	broad.mit.edu	37	chr5	127487026	127487026	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttcgtcattaactggtgggCtgcattgctaacatatgtga	11	7	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:127487026C>G	ENST00000262461.2	+	14	2390	c.2201C>G	c.(2200-2202)gCt>gGt	p.A734G	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A734G	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	734					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AACTGGTGGGCTGCATTGCTA	0.378													False	0	True	5:127487026	0	G	127487026	C	G	127487026	3	3	82	1	0	0	0	0	1	0	0	0	14464	797	28	5	2255	5	SLC12A2	5	127487026	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	82224785	127487026	53428234	44	7125											
RBM27	54439	broad.mit.edu	37	chr5	145651191	145651191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccaaagcactaacagttgGaggattcattgaggaagaaa	10	7	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:145651191G>A	ENST00000265271.5	+	19	3108	c.2942G>A	c.(2941-2943)gGa>gAa	p.G981E	RBM27_ENST00000506502.1_Missense_Mutation_p.G926E	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	981					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTAACAGTTGGAGGATTCATT	0.443													False	0	False	5:145651191	0	A	145651191	G	A	145651191	3	1	82	1	0	0	0	0	1	0	0	0	13206	1174	41	2	3016	2	RBM27	5	145651191	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	18164165	145651191	35264069	45	7126											
GRIA1	0	broad.mit.edu	37	chr5	153026597	153026597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacgtctgcttcattacGccgagctttcccgttgatac	7	15	2	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr5:153026597G>A	ENST00000285900.5	+	3	673	c.330G>A	c.(328-330)acG>acA	p.T110T	GRIA1_ENST00000448073.4_Silent_p.T120T|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Silent_p.T110T|GRIA1_ENST00000518783.1_Silent_p.T120T|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Silent_p.T41T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	110					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.T110T(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTTCATTACGCCGAGCTTTC	0.498													False	0	False	5:153026597	0	A	153026597	G	A	153026597	2	1	82	1	0	0	0	0	0	0	0	1	6814	1074	38	1		1	GRIA1	5	153026597	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	7375406	153026597	27888663	46	7127											
DSP	1832	broad.mit.edu	37	chr6	7571743	7571743	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgacaagcggaaaatacagtCtcagttcaccgatgcccaga	9	11	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:7571743C>G	ENST00000379802.3	+	14	2170	c.1829C>G	c.(1828-1830)tCt>tGt	p.S610C	DSP_ENST00000418664.2_Missense_Mutation_p.S610C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	610	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAATACAGTCTCAGTTCACC	0.488													False	0	False	6:7571743	0	G	7571743	C	G	7571743	3	3	82	1	0	0	0	0	1	0	0	0	4811	913	32	5	1883	5	DSP	6	7571743	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		7571743	163543324	47	7128											
HLA-G	3135	broad.mit.edu	37	chr6	29797288	29797288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctaccctgcggagatcaTactgacctggcagcgggatg	12	12	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:29797288T>C	ENST00000428701.1	+	5	891	c.713T>C	c.(712-714)aTa>aCa	p.I238T	HLA-G_ENST00000360323.6_Missense_Mutation_p.I238T|HLA-G_ENST00000376818.3_Missense_Mutation_p.I146T|HLA-G_ENST00000376828.2_Missense_Mutation_p.I243T|HLA-G_ENST00000376815.3_Intron	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	238	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GCGGAGATCATACTGACCTGG	0.627													False	0	False	6:29797288	0	C	29797288	T	C	29797288	3	2	82	1	0	0	0	0	1	0	0	0	7259	1406	49	4	727	4	HLA-G	6	29797288	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	22225545	29797288	141317779	48	7129											
RNF39	80352	broad.mit.edu	37	chr6	30043491	30043491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcccgcattaacttttgCcgctttccgcccctctcctg	6	18	1	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:30043491C>T	ENST00000244360.6	-	1	173	c.76G>A	c.(76-78)Gca>Aca	p.A26T	RNF39_ENST00000376751.3_Missense_Mutation_p.A26T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	26						cytoplasm	zinc ion binding										TTAACTTTTGCCGCTTTCCGC	0.602													False	0	False	6:30043491	0	T	30043491	C	T	30043491	3	4	82	1	0	0	0	0	1	0	0	0	13570	739	26	2	1202	2	RNF39	6	30043491	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	246203	30043491	141071576	49	7130											
COL19A1	1310	broad.mit.edu	37	chr6	70831785	70831785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacagggacctcctggaaTacaaggaatacaccaaactc	7	11	0	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:70831785T>C	ENST00000322773.4	+	17	1394	c.1292T>C	c.(1291-1293)aTa>aCa	p.I431T	COL19A1_ENST00000393344.1_Missense_Mutation_p.I53T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	431					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTCCTGGAATACAAGGAATA	0.269													False	0	False	6:70831785	0	C	70831785	T	C	70831785	3	2	82	1	0	0	0	0	1	0	0	0	3699	1406	49	4	1354	4	COL19A1	6	70831785	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	40788294	70831785	100283282	50	7131											
PLEKHG1	57480	broad.mit.edu	37	chr6	151054871	151054871	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggttccacatcatcctcGgcctcttcccgcgacagcca	7	18	2	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:151054871G>A	ENST00000367328.1	+	3	366	c.54G>A	c.(52-54)tcG>tcA	p.S18S	PLEKHG1_ENST00000358517.2_Silent_p.S18S	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	18					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CATCATCCTCGGCCTCTTCCC	0.542													False	0	False	6:151054871	0	A	151054871	G	A	151054871	2	1	82	1	0	0	0	0	0	0	0	1	12137	1103	39	1		1	PLEKHG1	6	151054871	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	80223086	151054871	20060196	51	7132											
TIAM2	26230	broad.mit.edu	37	chr6	155450620	155450620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgcaaggtctccagagGtgttgcctactccacgcaca	9	14	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr6:155450620G>A	ENST00000461783.3	+	6	1536	c.263G>A	c.(262-264)gGt>gAt	p.G88D	TIAM2_ENST00000318981.5_Missense_Mutation_p.G88D|TIAM2_ENST00000360366.4_Missense_Mutation_p.G88D|TIAM2_ENST00000529824.2_Missense_Mutation_p.G88D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.G88D			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	88					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTCTCCAGAGGTGTTGCCTAC	0.552													False	0	False	6:155450620	0	A	155450620	G	A	155450620	3	1	82	1	0	0	0	0	1	0	0	0	15973	1261	44	2	265	2	TIAM2	6	155450620	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	4395749	155450620	15664447	52	7133											
DNAH11	8701	broad.mit.edu	37	chr7	21599227	21599227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaatgtttgtaggccaccGtcaaacgaaaggataatact	8	8	1	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:21599227G>A	ENST00000328843.6	+	4	730	c.699G>A	c.(697-699)ccG>ccA	p.P233P	DNAH11_ENST00000409508.3_Silent_p.P233P			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	233	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTAGGCCACCGTCAAACGAAA	0.308									Kartagener syndrome				False	0	False	7:21599227	0	A	21599227	G	A	21599227	2	1	82	1	0	0	0	0	0	0	0	1	4629	1132	40	1		1	DNAH11	7	21599227	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08		21599227	137539436	53	7134											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	11	12	1	1	rs147859349		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													False	0	False	7:72398976	0	G	72398976	A	G	72398976	3	3	82	1	0	0	0	0	1	0	0	0	12308	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	50799749	72398976	86739687	54	7135											
CCL24	6369	broad.mit.edu	37	chr7	75441265	75441265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgccacagaactgctggCccttcttggtggtgaagctg	14	11	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:75441265C>T	ENST00000416943.1	-	4	302	c.209G>A	c.(208-210)gGc>gAc	p.G70D	CCL24_ENST00000222902.2_Missense_Mutation_p.G70D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	70					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						GAACTGCTGGCCCTTCTTGGT	0.612													False	0	True	7:75441265	0	T	75441265	C	T	75441265	3	4	82	1	0	0	0	0	1	0	0	0	2917	739	26	2	152	2	CCL24	7	75441265	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	3042289	75441265	83697398	55	7136											
FZD1	8321	broad.mit.edu	37	chr7	90894600	90894600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaaccagaccatcatgccCaacctgctgggccacacgaa	7	16	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:90894600C>T	ENST00000287934.2	+	1	818	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	135	FZ.				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCATCATGCCCAACCTGCTGG	0.617													False	0	True	7:90894600	0	T	90894600	C	T	90894600	2	4	82	1	0	0	0	0	0	0	0	1	6170	581	21	2		2	FZD1	7	90894600	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	15453335	90894600	68244063	56	7137											
MUC17	140453	broad.mit.edu	37	chr7	100679220	100679220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagcatagcaatctcaaCgcctagtgaaggaagcactg	9	11	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:100679220C>T	ENST00000306151.4	+	3	4587	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1508	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAATCTCAACGCCTAGTGAA	0.473													False	0	False	7:100679220	0	T	100679220	C	T	100679220	3	4	82	1	0	0	0	0	1	0	0	0	10041	536	19	1	4533	1	MUC17	7	100679220	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	9784620	100679220	58459443	57	7138											
NUP205	23165	broad.mit.edu	37	chr7	135304378	135304378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattagtgggttttgcttctAttggagattcttcactttac	8	7	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:135304378A>G	ENST00000285968.6	+	29	4197	c.4171A>G	c.(4171-4173)Att>Gtt	p.I1391V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1391					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTTGCTTCTATTGGAGATTC	0.368													False	0	False	7:135304378	0	G	135304378	A	G	135304378	3	3	82	1	0	0	0	0	1	0	0	0	10827	449	16	4	4285	4	NUP205	7	135304378	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	34625158	135304378	23834285	58	7139											
PTPRN2	5799	broad.mit.edu	37	chr7	157370783	157370783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccggacgccgttctccGcgaggggtgtcagcatgacg	15	13	2	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr7:157370783G>A	ENST00000389413.3	-	17	2562	c.2459C>T	c.(2458-2460)gCg>gTg	p.A820V	PTPRN2_ENST00000389418.4_Missense_Mutation_p.A849V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A811V|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A832V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A872V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	849	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCGTTCTCCGCGAGGGGTGT	0.622													False	0	False	7:157370783	0	A	157370783	G	A	157370783	3	1	82	1	0	0	0	0	1	0	0	0	12887	1087	38	1	525	1	PTPRN2	7	157370783	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	22066405	157370783	1767880	59	7140											
DLGAP2	9228	broad.mit.edu	37	chr8	1645335	1645335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagcgccatgccgaggcCgacgtcgcaggacctggccg	14	18	0	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:1645335C>T	ENST00000421627.2	+	11	2713	c.2579C>T	c.(2578-2580)cCg>cTg	p.P860L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	939					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ATGCCGAGGCCGACGTCGCAG	0.667													False	0	False	8:1645335	0	T	1645335	C	T	1645335	3	4	82	1	0	0	0	0	1	0	0	0	4590	652	23	1	2617	1	DLGAP2	8	1645335	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		1645335	144718687	60	7141											
RP1	6101	broad.mit.edu	37	chr8	55533656	55533656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcagtttctacaagagcGgagacccccaattcggcggg	12	11	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:55533656G>A	ENST00000220676.1	+	2	278	c.130G>A	c.(130-132)Gga>Aga	p.G44R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	44	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTACAAGAGCGGAGACCCCCA	0.547													False	0	False	8:55533656	0	A	55533656	G	A	55533656	3	1	82	1	0	0	0	0	1	0	0	0	13611	1117	39	1	132	1	RP1	8	55533656	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	53888321	55533656	90830366	61	7142											
NECAB1	64168	broad.mit.edu	37	chr8	91929840	91929840	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggaaactactgaggagCaaacccgtcaagaaaggcaa	10	10	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:91929840C>T	ENST00000417640.2	+	6	815	c.478C>T	c.(478-480)Caa>Taa	p.Q160*		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	160					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TACTGAGGAGCAAACCCGTCA	0.383													False	0	True	8:91929840	0	T	91929840	C	T	91929840	4	4	82	1	0	0	0	0	0	1	0	0	10372	711	25	2	500	2	NECAB1	8	91929840	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	36396184	91929840	54434182	62	7143											
FAM135B	51059	broad.mit.edu	37	chr8	139165088	139165088	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cactggggcctgtccatcctCtggacctggactccttctag	10	15	2	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr8:139165088C>A	ENST00000395297.1	-	13	1800	c.1630G>T	c.(1630-1632)Gag>Tag	p.E544*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	544										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTCCATCCTCTGGACCTGGA	0.512										HNSCC(54;0.14)			False	0	False	8:139165088	0	A	139165088	C	A	139165088	4	1	82	1	0	0	0	0	0	1	0	0	5485	922	32	3	2622	3	FAM135B	8	139165088	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	47235248	139165088	7198934	63	7144											
CDKN2A	1029	broad.mit.edu	37	chr9	21974702	21974702	+	Missense_Mutation	SNP	T	T	A													tcggcctccgaccgtaactaTtcggtgcgttgggcagcgcc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:21974702T>A	ENST00000304494.5	-	1	395	c.125A>T	c.(124-126)aAt>aTt	p.N42I	CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	42					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)|p.N42T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCGTAACTATTCGGTGCGTT	0.687		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	False	9:21974702	0	A	21974702	T	A	21974702	3	1	82	1	0	0	0	0	1	0	0	0	3184	1493	52	5	558	5	CDKN2A	9	21974702	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08		21974702	119238729	64	7145	125	2									
CDKN2A	1029	broad.mit.edu	37	chr9	21974704	21974704	+	Silent	SNP	C	C	A													ggcctccgaccgtaactattCggtgcgttgggcagcgcccc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:21974704C>A	ENST00000304494.5	-	1	393	c.123G>T	c.(121-123)ccG>ccT	p.P41P	CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Silent_p.P41P|CDKN2A_ENST00000498124.1_Silent_p.P41P|CDKN2A_ENST00000579122.1_Silent_p.P41P|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	41					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGTAACTATTCGGTGCGTTGG	0.697		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	False	9:21974704	0	A	21974704	C	A	21974704	2	1	82	1	0	0	0	0	0	0	0	1	3184	871	31	3		3	CDKN2A	9	21974704	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	2	21974704	119238727	65	7146	125	2									
COL15A1	1306	broad.mit.edu	37	chr9	101802811	101802811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgtcacaggggccggaCgggttgcctgggctgccagg	20	10	1	0	rs146647282		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:101802811C>T	ENST00000375001.3	+	23	2907	c.2484C>T	c.(2482-2484)gaC>gaT	p.D828D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	828	Triple-helical region 4 (COL4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGGGCCGGACGGGTTGCCTG	0.587													False	0	True	9:101802811	0	T	101802811	C	T	101802811	2	4	82	1	0	0	0	0	0	0	0	1	3695	535	19	1		1	COL15A1	9	101802811	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	79828107	101802811	39410620	66	7147											
ASTN2	23245	broad.mit.edu	37	chr9	119976795	119976795	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtcatccaggatgggagtcTcccggatgggcacgccaatg	14	11	2	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:119976795T>A	ENST00000313400.4	-	3	957	c.857A>T	c.(856-858)gAg>gTg	p.E286V	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.E286V|ASTN2_ENST00000361209.2_Missense_Mutation_p.E286V			O75129	ASTN2_HUMAN	astrotactin 2	286						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GATGGGAGTCTCCCGGATGGG	0.617													False	0	True	9:119976795	0	A	119976795	T	A	119976795	3	1	82	1	0	0	0	0	1	0	0	0	1069	1551	54	5	3321	5	ASTN2	9	119976795	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	18173984	119976795	21236636	67	7148											
GPR21	2844	broad.mit.edu	37	chr9	125797611	125797611	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctatgccatggtcctgtttCgaatcactagtgtattttac	8	9	1	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:125797611C>T	ENST00000373642.1	+	1	806	c.766C>T	c.(766-768)Cga>Tga	p.R256*	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	256						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGTCCTGTTTCGAATCACTAG	0.507													False	0	True	9:125797611	0	T	125797611	C	T	125797611	4	4	82	1	0	0	0	0	0	1	0	0	6727	876	31	1	768	1	GPR21	9	125797611	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	5820816	125797611	15415820	68	7149											
NTNG2	84628	broad.mit.edu	37	chr9	135102349	135102349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgcaagaagaatttccGcacccggtcctggcgggccg	13	13	0	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr9:135102349G>A	ENST00000393229.3	+	4	1747	c.971G>A	c.(970-972)cGc>cAc	p.R324H	NTNG2_ENST00000393228.4_Missense_Mutation_p.R324H|NTNG2_ENST00000372179.3_Missense_Mutation_p.R324H|NTNG2_ENST00000360670.3_Missense_Mutation_p.R324H	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	324	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AAGAATTTCCGCACCCGGTCC	0.677													False	0	False	9:135102349	0	A	135102349	G	A	135102349	3	1	82	1	0	0	0	0	1	0	0	0	10773	1087	38	1	981	1	NTNG2	9	135102349	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	9304738	135102349	6111082	69	7150											
CUBN	8029	broad.mit.edu	37	chr10	16877170	16877170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctcaggttgccaaatGccttgtgatagtctctgttg	11	9	2	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr10:16877170G>A	ENST00000377833.4	-	64	10270	c.10205C>T	c.(10204-10206)gCa>gTa	p.A3402V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3402	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTGCCAAATGCCTTGTGATA	0.438													False	0	False	10:16877170	0	A	16877170	G	A	16877170	3	1	82	1	0	0	0	0	1	0	0	0	4076	1319	46	2	682	2	CUBN	10	16877170	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08		16877170	118657577	70	7151											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629414	1629414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcagcccccacaagagcCacagacccccttggagcccc	8	20	0	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:1629414C>T	ENST00000399685.1	-	1	279	c.202G>A	c.(202-204)Ggc>Agc	p.G68S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	68	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCACAAGAGCCACAGACCCCC	0.667													False	0	False	11:1629414	0	T	1629414	C	T	1629414	3	4	82	1	0	0	0	0	1	0	0	0	8613	594	21	2	518	2	KRTAP5-3	11	1629414	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		1629414	133377102	71	7152											
OSBPL5	114879	broad.mit.edu	37	chr11	3129166	3129166	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctccagggcgtccagcCagcagcgacctgcggggcac	14	17	0	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:3129166C>T	ENST00000263650.7	-	8	860	c.701G>A	c.(700-702)tGg>tAg	p.W234*	OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.W145*|OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.W166*	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	234	PH.				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCGTCCAGCCAGCAGCGACC	0.697													False	0	True	11:3129166	0	T	3129166	C	T	3129166	4	4	82	1	0	0	0	0	0	1	0	0	11348	595	21	2	1998	2	OSBPL5	11	3129166	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	1499752	3129166	131877350	72	7153											
NELL1	4745	broad.mit.edu	37	chr11	21556023	21556023	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaagcggtttccatgaCgatgggacctattcactgtc	11	10	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:21556023C>T	ENST00000298925.5	+	17	1986	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000357134.5_Silent_p.D583D|NELL1_ENST00000325319.5_Silent_p.D526D			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	583	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTTTCCATGACGATGGGACCT	0.527													False	0	False	11:21556023	0	T	21556023	C	T	21556023	2	4	82	1	0	0	0	0	0	0	0	1	10401	535	19	1		1	NELL1	11	21556023	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	18426857	21556023	113450493	73	7154											
PRR5L	79899	broad.mit.edu	37	chr11	36472814	36472814	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaactggaggagctggTgaagcaagtggtttctcctt	13	7	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:36472814T>A	ENST00000378867.3	+	9	996	c.641T>A	c.(640-642)gTg>gAg	p.V214E	PRR5L_ENST00000311599.5_Missense_Mutation_p.V141E|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000530639.1_Missense_Mutation_p.V214E|PRR5L_ENST00000389693.3_3'UTR	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	214										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GAGGAGCTGGTGAAGCAAGTG	0.527													False	0	False	11:36472814	0	A	36472814	T	A	36472814	3	1	82	1	0	0	0	0	1	0	0	0	12678	1696	59	5	673	5	PRR5L	11	36472814	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	14916791	36472814	98533702	74	7155											
RAG1	5896	broad.mit.edu	37	chr11	36595176	36595176	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgatccatcaagccaaccttCgacatctctgccgcatctgt	6	16	3	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:36595176C>T	ENST00000299440.5	+	2	434	c.322C>T	c.(322-324)Cga>Tga	p.R108*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	108	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AGCCAACCTTCGACATCTCTG	0.463									Familial Hemophagocytic Lymphohistiocytosis				False	0	False	11:36595176	0	T	36595176	C	T	36595176	4	4	82	1	0	0	0	0	0	1	0	0	13082	876	31	1	324	1	RAG1	11	36595176	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	122362	36595176	98411340	75	7156											
FOLH1	2346	broad.mit.edu	37	chr11	49221961	49221961	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caagctgaaagttttgttctGttcctgctaaatgtggtatc	9	7	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:49221961G>C	ENST00000340334.7	-	4	580	c.212C>G	c.(211-213)aCa>aGa	p.T71R	FOLH1_ENST00000356696.3_Missense_Mutation_p.T86R|FOLH1_ENST00000256999.2_Missense_Mutation_p.T86R|FOLH1_ENST00000533034.1_Missense_Mutation_p.T71R|FOLH1_ENST00000343844.4_Intron	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	86					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTTTTGTTCTGTTCCTGCTAA	0.348													False	0	True	11:49221961	0	C	49221961	G	C	49221961	3	2	82	1	0	0	0	0	1	0	0	0	6019	1377	48	5	2063	5	FOLH1	11	49221961	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	12626785	49221961	85784555	76	7157											
OR4C13	283092	broad.mit.edu	37	chr11	49974001	49974001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagaaacaatgtgacagaGtttattctattggggcttac	9	5	1	3	rs148894043	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr11:49974001G>A	ENST00000555099.1	+	1	59	c.27G>A	c.(25-27)gaG>gaA	p.E9E		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGTGACAGAGTTTATTCTAT	0.299													False	0	True	11:49974001	0	A	49974001	G	A	49974001	2	1	82	1	0	0	0	0	0	0	0	1	11115	1020	36	2		2	OR4C13	11	49974001	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	752040	49974001	85032515	77	7158											
KCNA1	3736	broad.mit.edu	37	chr12	5021899	5021899	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcctctactatgagcaagtCtgagtacatggagatcgaag	10	8	2	3			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:5021899C>A	ENST00000382545.3	+	2	2462	c.1355C>A	c.(1354-1356)tCt>tAt	p.S452Y	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	452				S -> Y (in Ref. 1; AAA36139).	synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGAGCAAGTCTGAGTACATG	0.483													False	0	False	12:5021899	0	A	5021899	C	A	5021899	3	1	82	1	0	0	0	0	1	0	0	0	8051	913	32	3	1357	3	KCNA1	12	5021899	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		5021899	128829996	78	7159											
PDE3A	5139	broad.mit.edu	37	chr12	20787935	20787935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagagtgcctgagagagcCtctgaggaaagcatcggctt	13	9	1	4			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:20787935C>A	ENST00000359062.3	+	8	1986	c.1946C>A	c.(1945-1947)cCt>cAt	p.P649H	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	649					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGAGAGAGCCTCTGAGGAAA	0.443													False	0	False	12:20787935	0	A	20787935	C	A	20787935	3	1	82	1	0	0	0	0	1	0	0	0	11705	681	24	3	1976	3	PDE3A	12	20787935	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	15766036	20787935	113063960	79	7160											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	82	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	4610349	25398284	108453611	80	7161											
PKP2	5318	broad.mit.edu	37	chr12	33031332	33031332	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggtaatcgctgtgcgtgTagtgagccctctccgggctg	14	11	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:33031332T>C	ENST00000340811.4	-	3	590	c.482A>G	c.(481-483)tAc>tGc	p.Y161C	PKP2_ENST00000070846.6_Missense_Mutation_p.Y161C	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	161					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCTGTGCGTGTAGTGAGCCCT	0.592													False	0	False	12:33031332	0	C	33031332	T	C	33031332	3	2	82	1	0	0	0	0	1	0	0	0	12054	1638	57	4	2211	4	PKP2	12	33031332	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	7633048	33031332	100820563	81	7162											
TMEM117	84216	broad.mit.edu	37	chr12	44782272	44782272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcactcgagaaaacacccaGgcttcagtagaagacccctt	7	13	2	3			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:44782272G>T	ENST00000266534.3	+	8	1489	c.1362G>T	c.(1360-1362)caG>caT	p.Q454H	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.Q350H	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	454						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AAAACACCCAGGCTTCAGTAG	0.443													False	0	False	12:44782272	0	T	44782272	G	T	44782272	3	4	82	1	0	0	0	0	1	0	0	0	16113	991	35	3	1388	3	TMEM117	12	44782272	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	11750940	44782272	89069623	82	7163											
FMNL3	91010	broad.mit.edu	37	chr12	50044493	50044493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatctcctcagccgagcGgccagccttgcgtagggtga	14	13	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:50044493G>A	ENST00000335154.5	-	17	2199	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	FMNL3_ENST00000352151.5_Missense_Mutation_p.R605C|FMNL3_ENST00000293590.5_Missense_Mutation_p.R656C|FMNL3_ENST00000550488.1_Missense_Mutation_p.R656C	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	656	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCAGCCGAGCGGCCAGCCTTG	0.582													False	0	False	12:50044493	0	A	50044493	G	A	50044493	3	1	82	1	0	0	0	0	1	0	0	0	5993	1116	39	1	1157	1	FMNL3	12	50044493	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	5262221	50044493	83807402	83	7164											
KRT6A	3853	broad.mit.edu	37	chr12	52881586	52881586	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcctccaacagagctgaggCcacccccaatggctctgcca	9	18	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:52881586C>G	ENST00000330722.6	-	9	1681	c.1613G>C	c.(1612-1614)gGc>gCc	p.G538A		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	538	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCTGAGGCCACCCCCAAT	0.577													False	0	False	12:52881586	0	G	52881586	C	G	52881586	3	3	82	1	0	0	0	0	1	0	0	0	8530	739	26	5	85	5	KRT6A	12	52881586	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	2837093	52881586	80970309	84	7165											
TDG	6996	broad.mit.edu	37	chr12	104377099	104377099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaaatttttagtaaagaaGtttttggagtaaaggttaag	10	0	0	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:104377099G>T	ENST00000392872.3	+	7	958	c.724G>T	c.(724-726)Gtt>Ttt	p.V242F	TDG_ENST00000542036.1_Missense_Mutation_p.V38F|TDG_ENST00000544861.1_Missense_Mutation_p.V99F|TDG_ENST00000266775.9_Missense_Mutation_p.V238F	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	242					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TAGTAAAGAAGTTTTTGGAGT	0.284								Base excision repair (BER), DNA glycosylases					False	0	True	12:104377099	0	T	104377099	G	T	104377099	3	4	82	1	0	0	0	0	1	0	0	0	15807	1029	36	3	750	3	TDG	12	104377099	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	51495513	104377099	29474796	85	7166											
GPR133	283383	broad.mit.edu	37	chr12	131593364	131593364	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcacctctacagcatggtGatcaaggtctttgggtcgga	12	10	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr12:131593364G>A	ENST00000261654.5	+	18	2542	c.1983G>A	c.(1981-1983)gtG>gtA	p.V661V	GPR133_ENST00000543617.1_Silent_p.V180V|GPR133_ENST00000376682.4_Silent_p.V347V|GPR133_ENST00000535015.1_Silent_p.V693V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	661					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACAGCATGGTGATCAAGGTCT	0.612													False	0	False	12:131593364	0	A	131593364	G	A	131593364	2	1	82	1	0	0	0	0	0	0	0	1	6689	1277	45	2		2	GPR133	12	131593364	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	27216265	131593364	2258531	86	7167											
MRP63	78988	broad.mit.edu	37	chr13	21751133	21751133	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcaccggcggccgcggttCgtgtcgttgcgcgccaagca	15	14	0	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:21751133C>T	ENST00000309594.4	+	2	156	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN	mitochondrial ribosomal protein 63	26										kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		GGCCGCGGTTCGTGTCGTTGC	0.662													False	0	False	13:21751133	0	T	21751133	C	T	21751133	2	4	82	1	0	0	0	0	0	0	0	1	9840	883	31	1		1	MRP63	13	21751133	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		21751133	93418745	87	7168											
TM9SF2	9375	broad.mit.edu	37	chr13	100153955	100153955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggttcctggcccgcgccGgagcggcgctttctacctgc	15	16	1	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:100153955G>A	ENST00000376387.4	+	1	285	c.95G>A	c.(94-96)cGg>cAg	p.R32Q		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	32					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GGCCCGCGCCGGAGCGGCGCT	0.667													False	0	False	13:100153955	0	A	100153955	G	A	100153955	3	1	82	1	0	0	0	0	1	0	0	0	16060	1116	39	1	97	1	TM9SF2	13	100153955	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	78402822	100153955	15015923	88	7169											
COL4A2	1284	broad.mit.edu	37	chr13	111102671	111102671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcagaggagaggcctgccGggtgagatgggacccaaggg	19	8	1	3			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr13:111102671G>A	ENST00000360467.5	+	20	1515	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	403	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAGGCCTGCCGGGTGAGATGG	0.632													False	0	True	13:111102671	0	A	111102671	G	A	111102671	2	1	82	1	0	0	0	0	0	0	0	1	3713	1103	39	1		1	COL4A2	13	111102671	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	10948716	111102671	4067207	89	7170											
DCAF5	8816	broad.mit.edu	37	chr14	69522129	69522129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctccagccctcgatctctCggcgtaccagtgagtcaaag	10	14	2	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:69522129C>T	ENST00000341516.5	-	9	1421	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	DCAF5_ENST00000554215.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000557386.1_Missense_Mutation_p.R424Q	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	425						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CTCGATCTCTCGGCGTACCAG	0.587													False	0	True	14:69522129	0	T	69522129	C	T	69522129	3	4	82	1	0	0	0	0	1	0	0	0	4298	884	31	1	1558	1	DCAF5	14	69522129	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		69522129	37827411	90	7171											
PGF	5228	broad.mit.edu	37	chr14	75416111	75416111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagtgcagattctcatcGccgcagcagccggtgcagcg	12	14	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:75416111G>A	ENST00000555567.1	-	3	805	c.264C>T	c.(262-264)ggC>ggT	p.G88G	PGF_ENST00000553716.1_Silent_p.G88G|PGF_ENST00000405431.2_Silent_p.G88G|PGF_ENST00000238607.6_Silent_p.G87G	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN	placental growth factor	88					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		GATTCTCATCGCCGCAGCAGC	0.632													False	0	False	14:75416111	0	A	75416111	G	A	75416111	2	1	82	1	0	0	0	0	0	0	0	1	11857	1074	38	1		1	PGF	14	75416111	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	5893982	75416111	31933429	91	7172											
PTPN21	11099	broad.mit.edu	37	chr14	89016677	89016677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaaactcgttattaagcaGttggatccgggcaaccaggc	10	11	0	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:89016677G>A	ENST00000556564.1	-	2	369	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.L29L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	29	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTATTAAGCAGTTGGATCCGG	0.567													False	0	False	14:89016677	0	A	89016677	G	A	89016677	2	1	82	1	0	0	0	0	0	0	0	1	12865	1020	36	2		2	PTPN21	14	89016677	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	13600566	89016677	18332863	92	7173											
EML1	2009	broad.mit.edu	37	chr14	100405553	100405553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgtggccagaaggctcGgacggaaccgacatcaatgc	15	10	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:100405553G>A	ENST00000262233.6	+	21	2350	c.2211G>A	c.(2209-2211)tcG>tcA	p.S737S	EML1_ENST00000327921.9_Silent_p.S725S|EML1_ENST00000334192.4_Silent_p.S756S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	737						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAGAAGGCTCGGACGGAACCG	0.582													False	0	True	14:100405553	0	A	100405553	G	A	100405553	2	1	82	1	0	0	0	0	0	0	0	1	5128	1103	39	1		1	EML1	14	100405553	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	11388876	100405553	6943987	93	7174											
XRCC3	7517	broad.mit.edu	37	chr14	104169592	104169592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaacgtcagtgcgcagcCgcggctgctgggccatgagc	16	13	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr14:104169592C>T	ENST00000553264.1	-	5	1275	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	XRCC3_ENST00000555055.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000445556.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000554913.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000352127.7_Missense_Mutation_p.R160Q|XRCC3_ENST00000554974.1_Intron			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	160					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		AGTGCGCAGCCGCGGCTGCTG	0.622								Direct reversal of damage;Homologous recombination					False	0	False	14:104169592	0	T	104169592	C	T	104169592	3	4	82	1	0	0	0	0	1	0	0	0	17538	652	23	1	577	1	XRCC3	14	104169592	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	3764039	104169592	3179948	94	7175											
MYO5A	4644	broad.mit.edu	37	chr15	52672018	52672018	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaaaaatgccaggctcaCcgtgaggggaaaccggccgc	13	12	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr15:52672018C>T	ENST00000399231.3	-	17	2343		c.e17+1		MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)						actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCCAGGCTCACCGTGAGGGGA	0.453													False	0	False	15:52672018	0	T	52672018	C	T	52672018	5	4	82	1	0	0	0	0	0	0	1	0	10145	521	18	2	3567	2	MYO5A	15	52672018	Splice_Site	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		52672018	49859374	95	7176											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140385	3140385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagctcaccccgcagtcCgcgcagatgaactgcaactc	11	15	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:3140385C>T	ENST00000252463.2	-	5	972	c.885G>A	c.(883-885)gcG>gcA	p.A295A	ZSCAN10_ENST00000538082.2_Silent_p.A213A|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	295					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCCCGCAGTCCGCGCAGATGA	0.632													False	0	False	16:3140385	0	T	3140385	C	T	3140385	2	4	82	1	0	0	0	0	0	0	0	1	18309	639	23	1		1	ZSCAN10	16	3140385	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		3140385	87214368	96	7177											
ACSM2B	348158	broad.mit.edu	37	chr16	20566614	20566614	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagtttcttgaagttcagCcacccatcgcagcttttctc	7	12	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:20566614C>T	ENST00000329697.6	-	4	741	c.573G>A	c.(571-573)tgG>tgA	p.W191*	ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.W112*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	191					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGAAGTTCAGCCACCCATCGC	0.443													False	0	False	16:20566614	0	T	20566614	C	T	20566614	4	4	82	1	0	0	0	0	0	1	0	0	184	740	26	2	1204	2	ACSM2B	16	20566614	Nonsense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	17426229	20566614	69788139	97	7178											
NLRC5	84166	broad.mit.edu	37	chr16	57092011	57092011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggcgacagcggactcAgatgccttctggaatgtctg	14	10	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57092011A>G	ENST00000436936.1	+	28	4006	c.3781A>G	c.(3781-3783)Aga>Gga	p.R1261G	RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Missense_Mutation_p.R1232G|NLRC5_ENST00000539144.1_Missense_Mutation_p.R1232G|NLRC5_ENST00000262510.6_Missense_Mutation_p.R1261G			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1261					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGCGGACTCAGATGCCTTCT	0.572													False	0	False	16:57092011	0	G	57092011	A	G	57092011	3	3	82	1	0	0	0	0	1	0	0	0	10538	180	7	4	3883	4	NLRC5	16	57092011	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	36525397	57092011	33262742	98	7179											
CCDC135	84229	broad.mit.edu	37	chr16	57764951	57764951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctctcaggccatgttcCgcatccgcatcctggagcag	10	15	1	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57764951C>T	ENST00000360716.3	+	18	2721	c.2500C>T	c.(2500-2502)Cgc>Tgc	p.R834C	CCDC135_ENST00000394337.4_Missense_Mutation_p.R834C|CCDC135_ENST00000336825.8_Missense_Mutation_p.R769C			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	834						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGCCATGTTCCGCATCCGCAT	0.597													False	0	True	16:57764951	0	T	57764951	C	T	57764951	3	4	82	1	0	0	0	0	1	0	0	0	2789	652	23	1	2562	1	CCDC135	16	57764951	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	672940	57764951	32589802	99	7180											
CNGB1	1258	broad.mit.edu	37	chr16	57945695	57945695	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaacccagtgagtggagccGaggccctgataggccgatgc	14	11	0	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:57945695G>A	ENST00000564448.1	-	25	2496	c.2436C>T	c.(2434-2436)ctC>ctT	p.L812L	CNGB1_ENST00000251102.8_Silent_p.L818L			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	818					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAGTGGAGCCGAGGCCCTGAT	0.547													False	0	False	16:57945695	0	A	57945695	G	A	57945695	2	1	82	1	0	0	0	0	0	0	0	1	3623	1045	37	1		1	CNGB1	16	57945695	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	180744	57945695	32409058	100	7181											
OSGIN1	29948	broad.mit.edu	37	chr16	83994666	83994666	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggtcaaggactggatgcaGaagaagcgaaggtgaggccg	18	6	1	3			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr16:83994666G>A	ENST00000343939.2	+	6	1109	c.726G>A	c.(724-726)caG>caA	p.Q242Q	OSGIN1_ENST00000565123.1_Silent_p.Q159Q|OSGIN1_ENST00000393306.1_Silent_p.Q159Q|OSGIN1_ENST00000361711.3_Silent_p.Q159Q			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	242					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						ACTGGATGCAGAAGAAGCGAA	0.572													False	0	False	16:83994666	0	A	83994666	G	A	83994666	2	1	82	1	0	0	0	0	0	0	0	1	11357	933	33	2		2	OSGIN1	16	83994666	Silent	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	26048971	83994666	6360087	101	7182											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			False	0	False	17:7578406	0	T	7578406	C	T	7578406	3	4	82	1	0	0	0	0	1	0	0	0	16464	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		7578406	73616804	102	7183											
TMEM132E	124842	broad.mit.edu	37	chr17	32953262	32953262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttcctgcgggaggcgCggcccccgtcacccgcggtc	13	19	2	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:32953262C>T	ENST00000321639.5	+	2	512	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	62						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCGGGAGGCGCGGCCCCCGTC	0.731													False	0	False	17:32953262	0	T	32953262	C	T	32953262	3	4	82	1	0	0	0	0	1	0	0	0	16130	759	27	1	190	1	TMEM132E	17	32953262	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	25374856	32953262	48241948	103	7184											
TEX19	400629	broad.mit.edu	37	chr17	80320465	80320465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggacccagggtcttcccTggagatttgaggagcttctt	12	10	2	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr17:80320465T>C	ENST00000333437.4	+	2	749	c.439T>C	c.(439-441)Tgg>Cgg	p.W147R		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	147						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GGGTCTTCCCTGGAGATTTGA	0.597													False	0	True	17:80320465	0	C	80320465	T	C	80320465	3	2	82	1	0	0	0	0	1	0	0	0	15862	1580	55	4	441	4	TEX19	17	80320465	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	47367203	80320465	874745	104	7185											
MIB1	57534	broad.mit.edu	37	chr18	19353645	19353645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgcagcatatgtcctctggGataatggtgctaagaacctt	11	9	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:19353645G>A	ENST00000261537.6	+	4	856	c.592G>A	c.(592-594)Gat>Aat	p.D198N	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	198	MIB/HERC2 2.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGTCCTCTGGGATAATGGTGC	0.428													False	0	True	18:19353645	0	A	19353645	G	A	19353645	3	1	82	1	0	0	0	0	1	0	0	0	9633	1174	41	2	606	2	MIB1	18	19353645	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08		19353645	58723603	105	7186											
HDHD2	84064	broad.mit.edu	37	chr18	44661018	44661018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctttctaacaggtcttgCttgctctctttggttgtatt	7	9	3	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr18:44661018C>T	ENST00000300605.6	-	3	311	c.159G>A	c.(157-159)aaG>aaA	p.K53K	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	53							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						ACAGGTCTTGCTTGCTCTCTT	0.403													False	0	True	18:44661018	0	T	44661018	C	T	44661018	2	4	82	1	0	0	0	0	0	0	0	1	7070	796	28	2		2	HDHD2	18	44661018	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	25307373	44661018	33416230	106	7187											
FUT6	2528	broad.mit.edu	37	chr19	5831521	5831521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgaaccaagccgctatgCcgcgtgtctggtacctggat	13	11	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:5831521C>T	ENST00000318336.4	-	3	2252	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	FUT6_ENST00000524754.1_Missense_Mutation_p.G353D|FUT6_ENST00000286955.5_Missense_Mutation_p.G353D|FUT6_ENST00000592563.1_Intron|FUT6_ENST00000527106.1_Missense_Mutation_p.G353D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	353					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						AGCCGCTATGCCGCGTGTCTG	0.632													False	0	False	19:5831521	0	T	5831521	C	T	5831521	3	4	82	1	0	0	0	0	1	0	0	0	6150	739	26	2	25	2	FUT6	19	5831521	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		5831521	53297462	107	7188											
PSG5	5673	broad.mit.edu	37	chr19	43683042	43683042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatactcacggaggagattcAgggtgactgggtcactgtgg	16	7	3	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:43683042A>G	ENST00000599812.1	-	3	793	c.698T>C	c.(697-699)cTg>cCg	p.L233P	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000404580.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	140	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GAGGAGATTCAGGGTGACTGG	0.522													False	0	True	19:43683042	0	G	43683042	A	G	43683042	3	3	82	1	0	0	0	0	1	0	0	0	12734	203	7	4		4	PSG5	19	43683042	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	37851521	43683042	15445941	108	7189											
RSPH6A	81492	broad.mit.edu	37	chr19	46299149	46299150	+	In_Frame_Ins	INS	-	-	CCTCCTCCTCCTCGC													gtcatctgtctcctcgccctINScctcctcctcctcgccctcc							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:46299149_46299150insCCTCCTCCTCCTCGC	ENST00000221538.3	-	6	2273_2274	c.2131_2132insGCGAGGAGGAGGAGG	c.(2131-2133)gag>gGCGAGGAGGAGGAGGag	p.710_711insGEEEE	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Ins_p.446_447insGEEEE	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	710	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ctcctcgccctcctcctcctcc	0.559													False	0	True	19:46299149	0	CCTCCTCCTCCTCGC	46299150	-	CCTCCTCCTCCTCGC	46299149	7	5	82	1	0	1	1	0	0	0	0	0	13786	1551	54	0	25	0	RSPH6A	19	46299149	In_Frame_Ins	INS	-	TCGA-HZ-A9TJ-01A-11D-A40W-08	2616107	46299149	12829834	109	7190											
ATF5	22809	broad.mit.edu	37	chr19	50436260	50436260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgcgagctgaaggaacggGcagagtccgtggagcgcgag	18	9	0	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:50436260G>A	ENST00000423777.2	+	3	1137	c.760G>A	c.(760-762)Gca>Aca	p.A254T	ATF5_ENST00000595125.1_Missense_Mutation_p.A254T|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	254					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GAAGGAACGGGCAGAGTCCGT	0.667													False	0	True	19:50436260	0	A	50436260	G	A	50436260	3	1	82	1	0	0	0	0	1	0	0	0	1087	1203	42	2	766	2	ATF5	19	50436260	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	4137111	50436260	8692723	110	7191											
ZNF880	400713	broad.mit.edu	37	chr19	52888074	52888075	+	In_Frame_Ins	INS	-	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA													tacaaatgtaatgaatgtggINScaaagcatttagagactgtt							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:52888074_52888075insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA	ENST00000422689.2	+	4	1256_1257	c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA	c.(1240-1245)ggcaaa>ggATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAcaaa	p.414_415GK>GS*GQEIETILANK		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	414					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AATGAATGTGGCAAAGCATTTA	0.411													False	0	True	19:52888074	0	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA	52888075	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA	52888074	7	5	82	1	0	1	1	0	0	0	0	0	18279	1203	42	0	1255	0	ZNF880	19	52888074	In_Frame_Ins	INS	-	TCGA-HZ-A9TJ-01A-11D-A40W-08	2451814	52888074	6240909	111	7192											
ZNF28	7576	broad.mit.edu	37	chr19	53303834	53303834	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttttgccaggtatgaattatAtgcaaaagccttgtcacaaa	7	7	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:53303834A>T	ENST00000438150.2	-	2	1998	c.1105T>A	c.(1105-1107)Tat>Aat	p.Y369N	ZNF28_ENST00000360272.4_Missense_Mutation_p.Y369N|ZNF28_ENST00000457749.2_Missense_Mutation_p.Y422N|ZNF28_ENST00000414252.2_Missense_Mutation_p.Y369N			P17035	ZNF28_HUMAN	zinc finger protein 28	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TATGAATTATATGCAAAAGCC	0.353													False	0	False	19:53303834	0	T	53303834	A	T	53303834	3	4	82	1	0	0	0	0	1	0	0	0	17896	449	16	5	896	5	ZNF28	19	53303834	Missense_Mutation	SNP	A	TCGA-HZ-A9TJ-01A-11D-A40W-08	415760	53303834	5825149	112	7193											
NLRP12	91662	broad.mit.edu	37	chr19	54314230	54314230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagtccagcatcaccttgTgtgccagcatggacttgcct	9	15	1	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:54314230T>C	ENST00000324134.6	-	3	851	c.683A>G	c.(682-684)cAc>cGc	p.H228R	NLRP12_ENST00000345770.5_Missense_Mutation_p.H228R|NLRP12_ENST00000391773.1_Missense_Mutation_p.H228R|NLRP12_ENST00000354278.3_Missense_Mutation_p.H228R|NLRP12_ENST00000535162.1_Missense_Mutation_p.H228R|NLRP12_ENST00000391772.1_Missense_Mutation_p.H228R|NLRP12_ENST00000391775.3_Missense_Mutation_p.H228R|NLRP12_ENST00000351894.4_Missense_Mutation_p.H228R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	228	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CATCACCTTGTGTGCCAGCAT	0.577													False	0	True	19:54314230	0	C	54314230	T	C	54314230	3	2	82	1	0	0	0	0	1	0	0	0	10542	1696	59	4	2630	4	NLRP12	19	54314230	Missense_Mutation	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	1010396	54314230	4814753	113	7194											
NLRP2	55655	broad.mit.edu	37	chr19	55494630	55494632	+	In_Frame_Del	DEL	GAA	GAA	-													acaccctggagaaggaggagGaagaggatagggacggccac					rs3745905	byFrequency	TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:55494630_55494632delGAA	ENST00000543010.1	+	6	1707_1709	c.1564_1566delGAA	c.(1564-1566)gaadel	p.E523del	NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del|NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	523	NACHT.|Poly-Glu.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAGGAGGAGGAAGAGGATAGGG	0.567													False	1	True	19:55494630	0	-	55494632	GAA	-	55494630	7	5	82	1	0	1	0	1	0	0	0	0	10545	1175	41	0	1582	0	NLRP2	19	55494630	In_Frame_Del	DEL	GAA	TCGA-HZ-A9TJ-01A-11D-A40W-08	1180400	55494630	3634353	114	7195											
ZNF543	125919	broad.mit.edu	37	chr19	57839619	57839619	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggagtgtgggaaggcTtttaaccgcaggtcacacct	13	9	1	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr19:57839619T>C	ENST00000321545.4	+	4	1134	c.789T>C	c.(787-789)gcT>gcC	p.A263A		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGGGAAGGCTTTTAACCGCA	0.522													False	0	True	19:57839619	0	C	57839619	T	C	57839619	2	2	82	1	0	0	0	0	0	0	0	1	18059	1596	56	4		4	ZNF543	19	57839619	Silent	SNP	T	TCGA-HZ-A9TJ-01A-11D-A40W-08	2344989	57839619	1289364	115	7196											
NKX2-4	644524	broad.mit.edu	37	chr20	21376877	21376877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccttgtccttggcctgcCgtttcatcttgtaccggtgg	11	14	2	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:21376877C>T	ENST00000351817.4	-	2	1365	c.737G>A	c.(736-738)cGg>cAg	p.R246Q		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	246					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						CTTGGCCTGCCGTTTCATCTT	0.711													False	0	False	20:21376877	0	T	21376877	C	T	21376877	3	4	82	1	0	0	0	0	1	0	0	0	10520	652	23	1	331	1	NKX2-4	20	21376877	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		21376877	41648643	116	7197											
SLC12A5	57468	broad.mit.edu	37	chr20	44685548	44685548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgaagggagtgggagaaCttgtaagtgcttcagcattt	13	6	1	2			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:44685548C>T	ENST00000243964.3	+	24	3221	c.3123C>T	c.(3121-3123)aaC>aaT	p.N1041N	SLC12A5_ENST00000454036.2_Silent_p.N1064N	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1064					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTGGGAGAACTTGTAAGTGC	0.493													False	0	False	20:44685548	0	T	44685548	C	T	44685548	2	4	82	1	0	0	0	0	0	0	0	1	14467	564	20	2		2	SLC12A5	20	44685548	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	23308671	44685548	18339972	117	7198											
SLC2A10	81031	broad.mit.edu	37	chr20	45354423	45354423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactaacagggcagcccaacGtgctgtgctatgcctccacc	9	15	0	0			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:45354423G>A	ENST00000359271.2	+	2	998	c.748G>A	c.(748-750)Gtg>Atg	p.V250M		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	250						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCAGCCCAACGTGCTGTGCTA	0.622													False	0	True	20:45354423	0	A	45354423	G	A	45354423	3	1	82	1	0	0	0	0	1	0	0	0	14619	1145	40	1	754	1	SLC2A10	20	45354423	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	668875	45354423	17671097	118	7199											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-													atgcagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55													False	1	True	20:46279833	0	-	46279834	GC	-	46279833	7	5	82	1	0	1	0	1	0	0	0	0	10298	962	34	0	3859	0	NCOA3	20	46279833	Frame_Shift_Del	DEL	GC	TCGA-HZ-A9TJ-01A-11D-A40W-08	925410	46279833	16745687	119	7200											
TFAP2C	7022	broad.mit.edu	37	chr20	55212855	55212856	+	Frame_Shift_Del	DEL	CA	CA	-													tgggaccagcaggctcgcccCagtcttggagacgaacatac							TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr20:55212855_55212856delCA	ENST00000201031.2	+	7	1382_1383	c.1139_1140delCA	c.(1138-1140)ccafs	p.P380fs	TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.P211fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	380	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AGGCTCGCCCCAGTCTTGGAGA	0.55													False	1	True	20:55212855	0	-	55212856	CA	-	55212855	7	5	82	1	0	1	0	1	0	0	0	0	15871	594	21	0	1165	0	TFAP2C	20	55212855	Frame_Shift_Del	DEL	CA	TCGA-HZ-A9TJ-01A-11D-A40W-08	8933022	55212855	7812665	120	7201											
TIAM1	7074	broad.mit.edu	37	chr21	32493062	32493062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgggactctttctccGggctgcttgcggagacggca	15	12	2	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:32493062G>A	ENST00000286827.3	-	29	4871	c.4400C>T	c.(4399-4401)cCg>cTg	p.P1467L	TIAM1_ENST00000541036.1_Missense_Mutation_p.P1407L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1467					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCTTTCTCCGGGCTGCTTGC	0.577													False	0	True	21:32493062	0	A	32493062	G	A	32493062	3	1	82	1	0	0	0	0	1	0	0	0	15972	1116	39	1	379	1	TIAM1	21	32493062	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08		32493062	15636833	121	7202											
TIAM1	7074	broad.mit.edu	37	chr21	32589921	32589921	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaggtagtatccagacccCacagagaagaaaacctgctc	10	11	0	3			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:32589921C>A	ENST00000286827.3	-	10	2561	c.2090G>T	c.(2089-2091)tGg>tTg	p.W697L	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.W697L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	697					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCCAGACCCCACAGAGAAGA	0.532													False	0	True	21:32589921	0	A	32589921	C	A	32589921	3	1	82	1	0	0	0	0	1	0	0	0	15972	595	21	3	2765	3	TIAM1	21	32589921	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	96859	32589921	15539974	122	7203											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46012231	46012232	+	Frame_Shift_Ins	INS	-	-	CT													agggggccggggcgcagcagINSgggggctcacagcagctctc					rs71738113		TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:46012231_46012232insCT	ENST00000400368.1	-	1	154_155	c.134_135insAG	c.(133-135)cccfs	p.P45fs	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	45	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGGCGCAGCAGGGGGGCTCACA	0.683													False	0	True	21:46012231	0	CT	46012232	-	CT	46012231	7	5	82	1	0	1	1	0	0	0	0	0	8563	987	35	0	966	0	KRTAP10-6	21	46012231	Frame_Shift_Ins	INS	-	TCGA-HZ-A9TJ-01A-11D-A40W-08	13422310	46012231	2117664	123	7204											
COL18A1	80781	broad.mit.edu	37	chr21	46932271	46932271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccatcacgcctacatcGtgctctgcattgagaacagc	9	14	2	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr21:46932271G>A	ENST00000359759.4	+	41	5245	c.5224G>A	c.(5224-5226)Gtg>Atg	p.V1742M	COL18A1_ENST00000355480.5_Missense_Mutation_p.V1507M|COL18A1_ENST00000400337.2_Missense_Mutation_p.V1327M|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1742	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGCCTACATCGTGCTCTGCAT	0.692													False	0	False	21:46932271	0	A	46932271	G	A	46932271	3	1	82	1	0	0	0	0	1	0	0	0	3698	1145	40	1	5495	1	COL18A1	21	46932271	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08	920040	46932271	1197624	124	7205											
CELSR1	9620	broad.mit.edu	37	chr22	46931761	46931761	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggcactgagcgggcccGgattgcgcccctggtcgttg	16	14	0	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chr22:46931761G>C	ENST00000262738.3	-	1	1306	c.1307C>G	c.(1306-1308)cCg>cGg	p.P436R	CELSR1_ENST00000395964.1_Missense_Mutation_p.P436R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	436	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAGCGGGCCCGGATTGCGCCC	0.667													False	0	True	22:46931761	0	C	46931761	G	C	46931761	3	2	82	1	0	0	0	0	1	0	0	0	3244	1116	39	5	7877	5	CELSR1	22	46931761	Missense_Mutation	SNP	G	TCGA-HZ-A9TJ-01A-11D-A40W-08		46931761	4372805	125	7206											
PCDH11X	27328	broad.mit.edu	37	chrX	91132649	91132649	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagttttcacccagtctttCgtaactgtttctattcctga	5	12	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:91132649C>T	ENST00000373094.1	+	2	2255	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	PCDH11X_ENST00000373097.1_Silent_p.F470F|PCDH11X_ENST00000298274.8_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F|PCDH11X_ENST00000395337.2_Silent_p.F470F|PCDH11X_ENST00000406881.1_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000504220.2_Silent_p.F470F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	470	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCAGTCTTTCGTAACTGTTT	0.433													False	0	True	X:91132649	0	T	91132649	C	T	91132649	2	4	82	1	0	0	0	0	0	0	0	1	11576	883	31	1		1	PCDH11X	23	91132649	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08		91132649	64137911	126	7207											
KIAA1210	57481	broad.mit.edu	37	chrX	118284525	118284525	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggcagagaagcctcgaggCgtccagccggccctcatttc	12	14	1	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:118284525C>A	ENST00000402510.2	-	1	17	c.18G>T	c.(16-18)acG>acT	p.T6T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	6								p.T6T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGCCTCGAGGCGTCCAGCCGG	0.652													False	0	False	X:118284525	0	A	118284525	C	A	118284525	2	1	82	1	0	0	0	0	0	0	0	1	8264	755	27	3		3	KIAA1210	23	118284525	Silent	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	27151876	118284525	36986035	127	7208											
L1CAM	3897	broad.mit.edu	37	chrX	153138054	153138054	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agagatcactcactgcacttCgggcttgccactggcctcac	9	15	3	1			TCGA-HZ-A9TJ-01A-11D-A40W-08	TCGA-HZ-A9TJ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ec6e4492-5846-4ef8-bfb8-0db49299854f	24e4448a-09eb-432b-aa22-61c71daa11f6	g.chrX:153138054C>G	ENST00000370060.1	-	4	379	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	L1CAM_ENST00000370055.1_Missense_Mutation_p.E59Q|L1CAM_ENST00000361699.4_Missense_Mutation_p.E64Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E64Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E59Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	64	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTGCACTTCGGGCTTGCCA	0.602													False	0	True	X:153138054	0	G	153138054	C	G	153138054	3	3	82	1	0	0	0	0	1	0	0	0	8639	893	31	5	3687	5	L1CAM	23	153138054	Missense_Mutation	SNP	C	TCGA-HZ-A9TJ-01A-11D-A40W-08	34853529	153138054	2132506	128	7209											
VPS13D	55187	broad.mit.edu	37	chr1	12446387	12446388	+	Frame_Shift_Ins	INS	-	-	CCAGGAGA													ttgaactcagcatacaggatINSgtacaggtaagggggaagtt							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:12446387_12446388insCCAGGAGA	ENST00000358136.3	+	60	11758_11759	c.11628_11629insCCAGGAGA	c.(11629-11631)gtafs	p.V3877fs	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.V3852fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3876					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCATACAGGATGTACAGGTAAG	0.411													False	0	False	1:12446387	0	CCAGGAGA	12446388	-	CCAGGAGA	12446387	7	5	83	1	0	1	1	0	0	0	0	0	17276	1461	51	0	11862	0	VPS13D	1	12446387	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08		12446387	236804234	1	7210											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	83	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-IB-7644-01A-11D-2154-08	10540998	22987385	226263236	2	7211											
ELTD1	64123	broad.mit.edu	37	chr1	79403873	79403874	+	In_Frame_Ins	INS	-	-	AAAGACATACTTTTT													tgattcagctaatatttctaINStatatgtaattatatctgtt							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:79403873_79403874insAAAGACATACTTTTT	ENST00000370742.3	-	5	550_551	c.487_488insAAAAAGTATGTCTTT	c.(487-489)ata>aAAAAAGTATGTCTTTta	p.163_163I>KKVCLL		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	163					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TAATATTTCTATATATGTAATT	0.342													False	0	True	1:79403873	0	AAAGACATACTTTTT	79403874	-	AAAGACATACTTTTT	79403873	7	5	83	1	0	1	1	0	0	0	0	0	5116	449	16	0	1628	0	ELTD1	1	79403873	In_Frame_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	56416488	79403873	169846748	3	7212											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	83	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-IB-7644-01A-11D-2154-08	73267642	152671515	96579106	4	7213											
TDRD5	163589	broad.mit.edu	37	chr1	179631421	179631422	+	Splice_Site	INS	-	-	ACAAA													gtaaagaaatgccacagaagINSgttagatccttggaaaaata							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:179631421_179631422insACAAA	ENST00000367614.1	+	14	2702	c.2343_2343insACAAA	c.(2344-2346)gac>gaACAAAc	p.D782fs	TDRD5_ENST00000444136.1_Splice_Site_p.D836fs|TDRD5_ENST00000294848.8_Splice_Site_p.D782fs	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	782					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGCCACAGAAGGTTAGATCCTT	0.475													False	0	False	1:179631421	0	ACAAA	179631422	-	ACAAA	179631421	8	5	83	1	0	1	1	0	0	0	1	0	15815	1014	35	0	2393	0	TDRD5	1	179631421	Splice_Site	INS	-	TCGA-IB-7644-01A-11D-2154-08	26959906	179631421	69619200	5	7214	126	2									
TDRD5	163589	broad.mit.edu	37	chr1	179631422	179631423	+	Splice_Site	INS	-	-	AAAAACTATCA													taaagaaatgccacagaaggINSttagatccttggaaaaatag							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:179631422_179631423insAAAAACTATCA	ENST00000367614.1	+	14	2702		c.e14+1		TDRD5_ENST00000444136.1_Splice_Site|TDRD5_ENST00000294848.8_Splice_Site	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5						DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GCCACAGAAGGTTAGATCCTTG	0.48													False	0	False	1:179631422	0	AAAAACTATCA	179631423	-	AAAAACTATCA	179631422	8	5	83	1	0	1	1	0	0	0	1	0	15815	1275	44	0	2394	0	TDRD5	1	179631422	Splice_Site	INS	-	TCGA-IB-7644-01A-11D-2154-08	1	179631422	69619199	6	7215	126	2									
MDM4	4194	broad.mit.edu	37	chr1	204518408	204518409	+	Frame_Shift_Ins	INS	-	-	TAATACTCAGGGG													aaaaggaaaatgaaggaaatINSgatgtccctgattgtcgaag							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:204518408_204518409insTAATACTCAGGGG	ENST00000367182.3	+	11	1233_1234	c.1071_1072insTAATACTCAGGGG	c.(1072-1074)gatfs	p.D358fs	MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Frame_Shift_Ins_p.D32fs|MDM4_ENST00000454264.2_Frame_Shift_Ins_p.D308fs|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000463049.1_3'UTR	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	358					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATGAAGGAAATGATGTCCCTGA	0.416			A		"GBM, bladder, retinoblastoma"								False	0	False	1:204518408	0	TAATACTCAGGGG	204518409	-	TAATACTCAGGGG	204518408	7	5	83	1	0	1	1	0	0	0	0	0	9481	1461	51	0	1109	0	MDM4	1	204518408	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	24886986	204518408	44732213	7	7216											
HEATR1	55127	broad.mit.edu	37	chr1	236766574	236766575	+	In_Frame_Ins	INS	-	-	TGTAAAAAATTAAGTAGTTGA													tttgtttactgctttggtctINSgaacacttcgctccaaggtt							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:236766574_236766575insTGTAAAAAATTAAGTAGTTGA	ENST00000366582.3	-	3	358_359	c.244_245insTCAACTACTTAATTTTTTACA	c.(244-246)cag>cTCAACTACTTAATTTTTTACAag	p.82_82Q>LNYLIFYK	HEATR1_ENST00000366579.1_In_Frame_Ins_p.82_82Q>LNYLIFYK|HEATR1_ENST00000366581.2_In_Frame_Ins_p.82_82Q>LNYLIFYK	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	82					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGCTTTGGTCTGAACACTTCGC	0.436													False	0	False	1:236766574	0	TGTAAAAAATTAAGTAGTTGA	236766575	-	TGTAAAAAATTAAGTAGTTGA	236766574	7	5	83	1	0	1	1	0	0	0	0	0	7074	1580	55	0	6361	0	HEATR1	1	236766574	In_Frame_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	32248166	236766574	12484047	8	7217											
ZNF513	130557	broad.mit.edu	37	chr2	27601875	27601875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcccccagactcatcGtcgctcagcccatagggaag	11	17	2	1			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr2:27601875G>A	ENST00000323703.6	-	3	456	c.258C>T	c.(256-258)gaC>gaT	p.D86D	ZNF513_ENST00000407879.1_Silent_p.D24D	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	86	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGACTCATCGTCGCTCAGCC	0.622													False	0	False	2:27601875	0	A	27601875	G	A	27601875	2	1	83	1	0	0	0	0	0	0	0	1	18041	1136	40	1		1	ZNF513	2	27601875	Silent	SNP	G	TCGA-IB-7644-01A-11D-2154-08		27601875	215597498	9	7218											
ABCG5	64240	broad.mit.edu	37	chr2	44047223	44047224	+	In_Frame_Ins	INS	-	-	TAAGAT													ccaaatcgggcaacctcaggINSatgtaagcccagcgtcctag							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr2:44047223_44047224insTAAGAT	ENST00000405322.1	-	8	1862_1863	c.966_967insATCTTA	c.(964-969)catcct>catATCTTAcct	p.322_323HP>HILP	ABCG5_ENST00000543989.1_In_Frame_Ins_p.98_99HP>HILP|ABCG5_ENST00000260645.1_In_Frame_Ins_p.493_494HP>HILP			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	493					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAACCTCAGGATGTAAGCCCA	0.426													False	0	False	2:44047223	0	TAAGAT	44047224	-	TAAGAT	44047223	7	5	83	1	0	1	1	0	0	0	0	0	71	1174	41	0	487	0	ABCG5	2	44047223	In_Frame_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	16445348	44047223	199152150	10	7219											
AGAP1	116987	broad.mit.edu	37	chr2	236659109	236659110	+	Frame_Shift_Ins	INS	-	-	ATGTAATTAGTTTATGAATC													tgtgctacatacgggctgaaINStgtggagagggtcttccagg					rs112666282	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr2:236659109_236659110insATGTAATTAGTTTATGAATC	ENST00000409538.1	+	6	1941_1942	c.1445_1446insATGTAATTAGTTTATGAATC	c.(1444-1449)aatgtgfs	p.NV482fs	AGAP1_ENST00000428334.2_Frame_Shift_Ins_p.NV56fs|AGAP1_ENST00000304032.7_Frame_Shift_Ins_p.NV217fs|AGAP1_ENST00000336665.5_Frame_Shift_Ins_p.NV217fs|AGAP1_ENST00000409457.1_Frame_Shift_Ins_p.NV217fs			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	217	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TACGGGCTGAATGTGGAGAGGG	0.55													False	0	False	2:236659109	0	ATGTAATTAGTTTATGAATC	236659110	-	ATGTAATTAGTTTATGAATC	236659109	7	5	83	1	0	1	1	0	0	0	0	0	366	101	4	0	672	0	AGAP1	2	236659109	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	192611886	236659109	6540264	11	7220											
CNOT10	25904	broad.mit.edu	37	chr3	32776413	32776414	+	Frame_Shift_Ins	INS	-	-	TATTTTAAAATAAGGCTCTTTT													gcaggaaaatggggctaaaaINSatagtaatcaattaggtggg							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:32776413_32776414insTATTTTAAAATAAGGCTCTTTT	ENST00000328834.5	+	12	1775_1776	c.1459_1460insTATTTTAAAATAAGGCTCTTTT	c.(1459-1461)aatfs	p.N487fs	CNOT10_ENST00000331889.6_Frame_Shift_Ins_p.N487fs|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000454516.2_Frame_Shift_Ins_p.N547fs|CNOT10_ENST00000538368.1_Frame_Shift_Ins_p.N259fs	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	487					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TGGGGCTAAAAATAGTAATCAA	0.441													False	0	True	3:32776413	0	TATTTTAAAATAAGGCTCTTTT	32776414	-	TATTTTAAAATAAGGCTCTTTT	32776413	7	5	83	1	0	1	1	0	0	0	0	0	3641	14	1	0	1505	0	CNOT10	3	32776413	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08		32776413	165246017	12	7221											
ULK4	54986	broad.mit.edu	37	chr3	41795926	41795926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaccaggaaggcttttgCtctaatgcatgttgaggggc	13	7	1	2			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:41795926C>T	ENST00000301831.4	-	22	2710	c.2248G>A	c.(2248-2250)Gca>Aca	p.A750T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	750							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAGGCTTTTGCTCTAATGCAT	0.358													False	0	False	3:41795926	0	T	41795926	C	T	41795926	3	4	83	1	0	0	0	0	1	0	0	0	17062	797	28	2	1643	2	ULK4	3	41795926	Missense_Mutation	SNP	C	TCGA-IB-7644-01A-11D-2154-08	9019513	41795926	156226504	13	7222											
KIF15	56992	broad.mit.edu	37	chr3	44816889	44816890	+	Frame_Shift_Ins	INS	-	-	ATAT													tccaaccctgagcccaagacINScttcacgtttgatcatgttg							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:44816889_44816890insATAT	ENST00000326047.4	+	3	355_356	c.206_207insATAT	c.(205-210)accttcfs	p.F70fs		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	70	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAGCCCAAGACCTTCACGTTTG	0.45													False	0	False	3:44816889	0	ATAT	44816890	-	ATAT	44816889	7	5	83	1	0	1	1	0	0	0	0	0	8327	507	18	0	216	0	KIF15	3	44816889	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	3020963	44816889	153205541	14	7223	127	2									
KIF15	56992	broad.mit.edu	37	chr3	44816890	44816891	+	Frame_Shift_Ins	INS	-	-	CCATACAAAT													ccaaccctgagcccaagaccINSttcacgtttgatcatgttgc							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:44816890_44816891insCCATACAAAT	ENST00000326047.4	+	3	356_357	c.207_208insCCATACAAAT	c.(208-210)ttcfs	p.-69fs		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGCCCAAGACCTTCACGTTTGA	0.446													False	0	False	3:44816890	0	CCATACAAAT	44816891	-	CCATACAAAT	44816890	7	5	83	1	0	1	1	0	0	0	0	0	8327	668	24	0	217	0	KIF15	3	44816890	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	1	44816890	153205540	15	7224	127	2									
CELSR3	1951	broad.mit.edu	37	chr3	48680455	48680455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcctgcccagacaggctGgcatccaggcagcccgagca	11	17	0	1			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:48680455G>A	ENST00000544264.1	-	30	8646	c.8366C>T	c.(8365-8367)cCa>cTa	p.P2789L	CELSR3_ENST00000164024.4_Missense_Mutation_p.P2784L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2784					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGACAGGCTGGCATCCAGGC	0.637													False	0	False	3:48680455	0	A	48680455	G	A	48680455	3	1	83	1	0	0	0	0	1	0	0	0	3246	1348	47	2	1615	2	CELSR3	3	48680455	Missense_Mutation	SNP	G	TCGA-IB-7644-01A-11D-2154-08	3863565	48680455	149341975	16	7225											
LAMB2	3913	broad.mit.edu	37	chr3	49166233	49166233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccccgggggtcaccaggCgctccaccacatcgagcacc	10	18	1	0			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:49166233C>T	ENST00000418109.1	-	15	1915	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R584H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	584	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.R584H(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTCACCAGGCGCTCCACCAC	0.617													False	0	False	3:49166233	0	T	49166233	C	T	49166233	3	4	83	1	0	0	0	0	1	0	0	0	8662	768	27	1	3721	1	LAMB2	3	49166233	Missense_Mutation	SNP	C	TCGA-IB-7644-01A-11D-2154-08	485778	49166233	148856197	17	7226											
CCDC66	285331	broad.mit.edu	37	chr3	56627108	56627109	+	In_Frame_Ins	INS	-	-	ATTTAATCCACT													accgtcaaagaaaaatagagINSgaaaaaattatatattcaaa							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:56627108_56627109insATTTAATCCACT	ENST00000394672.3	+	8	1117_1118	c.1047_1048insATTTAATCCACT	c.(1048-1050)gaa>ATTTAATCCACTgaa	p.349_350insI*ST	CCDC66_ENST00000326595.7_In_Frame_Ins_p.315_316insI*ST|CCDC66_ENST00000436465.2_In_Frame_Ins_p.349_350insI*ST	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	349										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAAAAATAGAGGAAAAAATTAT	0.302													False	0	True	3:56627108	0	ATTTAATCCACT	56627109	-	ATTTAATCCACT	56627108	7	5	83	1	0	1	1	0	0	0	0	0	2859	991	35	0	1077	0	CCDC66	3	56627108	In_Frame_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	7460875	56627108	141395322	18	7227											
PDZRN3	23024	broad.mit.edu	37	chr3	73438996	73438996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtctccttctcggatgcGcccatccttggctgcaatgc	11	15	2	0			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:73438996G>A	ENST00000263666.4	-	7	1501	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180C|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	463	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTCGGATGCGCCCATCCTTG	0.468													False	0	True	3:73438996	0	A	73438996	G	A	73438996	3	1	83	1	0	0	0	0	1	0	0	0	11777	1087	38	1	1829	1	PDZRN3	3	73438996	Missense_Mutation	SNP	G	TCGA-IB-7644-01A-11D-2154-08	16811888	73438996	124583434	19	7228											
ATP2C1	27032	broad.mit.edu	37	chr3	130672697	130672698	+	Frame_Shift_Ins	INS	-	-	TATCAAAACCATC													ccattgatgagtccagcttgINSacaggtgagacaacgccttg							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:130672697_130672698insTATCAAAACCATC	ENST00000510168.1	+	9	1114_1115	c.564_565insTATCAAAACCATC	c.(565-567)acafs	p.T189fs	ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.T223fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.T134fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.T184fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.T189fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	189					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AGTCCAGCTTGACAGGTGAGAC	0.431									Hailey-Hailey disease				False	0	False	3:130672697	0	TATCAAAACCATC	130672698	-	TATCAAAACCATC	130672697	7	5	83	1	0	1	1	0	0	0	0	0	1147	1281	45	0	594	0	ATP2C1	3	130672697	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	57233701	130672697	67349733	20	7229											
PRKCI	5584	broad.mit.edu	37	chr3	169998131	169998132	+	Frame_Shift_Ins	INS	-	-	GATATTTTCCTAACAT													tactgttggttcgattaaaaINSaaaacagatcgtatttatgc							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:169998131_169998132insGATATTTTCCTAACAT	ENST00000295797.4	+	9	1127_1128	c.822_823insGATATTTTCCTAACAT	c.(823-825)aaafs	p.K275fs		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	275	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTCGATTAAAAAAAACAGATCG	0.361													False	0	True	3:169998131	0	GATATTTTCCTAACAT	169998132	-	GATATTTTCCTAACAT	169998131	7	5	83	1	0	1	1	0	0	0	0	0	12590	11	1	0	856	0	PRKCI	3	169998131	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	39325434	169998131	28024299	21	7230											
VPS8	23355	broad.mit.edu	37	chr3	184542503	184542504	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT													gagctgaataagtctttcaaINStctagaagcttcactttcaa							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:184542503_184542504insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	ENST00000436792.2	+	2	226_227	c.83_84insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	c.(82-87)aatctafs	p.NL28fs	VPS8_ENST00000437079.3_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000287546.4_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000446204.2_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000424463.2_Frame_Shift_Ins_p.NL28fs			Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	28							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AAGTCTTTCAATCTAGAAGCTT	0.351													False	0	False	3:184542503	0	AAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	184542504	-	AAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	184542503	7	5	83	1	0	1	1	0	0	0	0	0	17302	101	4	0	85	0	VPS8	3	184542503	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	14544372	184542503	13479927	22	7231											
HTT	3064	broad.mit.edu	37	chr4	3189588	3189589	+	In_Frame_Ins	INS	-	-	TAATAC													tgaagggaaacaaataaagaINSatttgccagaagaaacattt							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr4:3189588_3189589insTAATAC	ENST00000355072.5	+	39	5345_5346	c.5200_5201insTAATAC	c.(5200-5202)aat>aTAATACat	p.1734_1734N>IIH		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1734					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACAAATAAAGAATTTGCCAGAA	0.386													False	0	True	4:3189588	0	TAATAC	3189589	-	TAATAC	3189588	7	5	83	1	0	1	1	0	0	0	0	0	7507	246	9	0	5354	0	HTT	4	3189588	In_Frame_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08		3189588	187964688	23	7232											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	83	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-IB-7644-01A-11D-2154-08	37245117	40434705	150719571	24	7233											
NUP54	53371	broad.mit.edu	37	chr4	77053791	77053792	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAGATTTAGAAC													ttatattggcttgttcaaaaINStgggcatatagcgttgtagc							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr4:77053791_77053792insAAAAAGAAAGATTTAGAAC	ENST00000514987.1	-	5	669_670	c.647_648insGTTCTAAATCTTTCTTTTT	c.(646-648)catfs	p.H216fs	NUP54_ENST00000458189.2_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000342467.6_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000264883.3_Frame_Shift_Ins_p.H264fs			Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	264	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CTTGTTCAAAATGGGCATATAG	0.386													False	0	True	4:77053791	0	AAAAAGAAAGATTTAGAAC	77053792	-	AAAAAGAAAGATTTAGAAC	77053791	7	5	83	1	0	1	1	0	0	0	0	0	10835	98	4	0	759	0	NUP54	4	77053791	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	36619086	77053791	114100485	25	7234											
KDM3B	51780	broad.mit.edu	37	chr5	137756544	137756544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcctccaacaacaaaaccGaagggtctagccttcgagac	8	14	1	1			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:137756544G>A	ENST00000314358.5	+	15	4065	c.3865G>A	c.(3865-3867)Gaa>Aaa	p.E1289K	KDM3B_ENST00000542866.1_Missense_Mutation_p.E321K|KDM3B_ENST00000394866.1_Missense_Mutation_p.E945K	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1289					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAACAAAACCGAAGGGTCTAG	0.547													False	0	False	5:137756544	0	A	137756544	G	A	137756544	3	1	83	1	0	0	0	0	1	0	0	0	8177	1059	37	1	3923	1	KDM3B	5	137756544	Missense_Mutation	SNP	G	TCGA-IB-7644-01A-11D-2154-08		137756544	43158716	26	7235											
PCDHA4	0	broad.mit.edu	37	chr5	140188477	140188477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgccagcactgctagcgcctCgggcgggtggcactggtggc	17	14	0	0	rs13189658		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:140188477C>T	ENST00000530339.1	+	1	1705	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	PCDHA4_ENST00000356878.4_Missense_Mutation_p.R569W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R569W	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGCGCCTCGGGCGGGTGG	0.687													False	0	True	5:140188477	0	T	140188477	C	T	140188477	3	4	83	1	0	0	0	0	1	0	0	0	11594	875	31	1	1707	1	PCDHA4	5	140188477	Missense_Mutation	SNP	C	TCGA-IB-7644-01A-11D-2154-08	2431933	140188477	40726783	27	7236											
PCDHGB6	0	broad.mit.edu	37	chr5	140788898	140788898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacacgggatctggatttcGgaggaaatggagaagtcagg	15	5	2	1			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:140788898G>A	ENST00000520790.1	+	1	1129	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGATTTCGGAGGAAATGG	0.413													False	0	False	5:140788898	0	A	140788898	G	A	140788898	3	1	83	1	0	0	0	0	1	0	0	0	11635	1117	39	1	1131	1	PCDHGB6	5	140788898	Missense_Mutation	SNP	G	TCGA-IB-7644-01A-11D-2154-08	600421	140788898	40126362	28	7237											
SPARC	6678	broad.mit.edu	37	chr5	151045924	151045924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggtctggggtcttacccGtcaatggggtgctggtccag	16	9	3	0			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:151045924G>A	ENST00000231061.4	-	8	1045	c.732C>T	c.(730-732)gaC>gaT	p.D244D		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	244					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	p.D244D(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	GGTCTTACCCGTCAATGGGGT	0.572													False	0	True	5:151045924	0	A	151045924	G	A	151045924	2	1	83	1	0	0	0	0	0	0	0	1	15077	1136	40	1		1	SPARC	5	151045924	Silent	SNP	G	TCGA-IB-7644-01A-11D-2154-08	10257026	151045924	29869336	29	7238											
ZNF354A	6940	broad.mit.edu	37	chr5	178139809	178139810	+	Frame_Shift_Ins	INS	-	-	ACTGGAGAGAAGTTTTA													aaaggtgttgccacattcatINStacataagtaggacttcttt							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:178139809_178139810insACTGGAGAGAAGTTTTA	ENST00000335815.2	-	5	1266_1267	c.1069_1070insTAAAACTTCTCTCCAGT	c.(1069-1071)aatfs	p.N357fs		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	357					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GCCACATTCATTACATAAGTAG	0.411													False	0	True	5:178139809	0	ACTGGAGAGAAGTTTTA	178139810	-	ACTGGAGAGAAGTTTTA	178139809	7	5	83	1	0	1	1	0	0	0	0	0	17947	1493	52	0	751	0	ZNF354A	5	178139809	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	27093885	178139809	2775451	30	7239											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	83	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-7644-01A-11D-2154-08		7393450	163721617	31	7240											
FAM8A1	51439	broad.mit.edu	37	chr6	17605243	17605248	+	In_Frame_Del	DEL	TTAGTT	TTAGTT	-													tggcacttatatacagattaTtagtttgtttctatgaggta					rs143076391	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	TTAGTT	TTAGTT	-	-	TTAGTT	TTAGTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:17605243_17605248delTTAGTT	ENST00000259963.3	+	3	995_1000	c.940_945delTTAGTT	c.(940-945)ttagttdel	p.LV314del		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	314	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			ATACAGATTATTAGTTTGTTTCTATG	0.301													False	1	True	6:17605243	0	-	17605248	TTAGTT	-	17605243	7	5	83	1	0	1	0	1	0	0	0	0	5689	1490	52	0	950	0	FAM8A1	6	17605243	In_Frame_Del	DEL	TTAGTT	TCGA-IB-7644-01A-11D-2154-08	10211793	17605243	153509824	32	7241											
CUTA	51596	broad.mit.edu	37	chr6	33384506	33384507	+	Frame_Shift_Ins	INS	-	-	TTTTG													gtacggaaagttcccctgttINSccacaggcaatgcaattacc							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:33384506_33384507insTTTTG	ENST00000374500.5	-	6	648_649	c.517_518insCAAAA	c.(517-519)gaafs	p.E173fs	CUTA_ENST00000440279.3_Frame_Shift_Ins_p.E131fs|CUTA_ENST00000374496.3_Frame_Shift_Ins_p.E131fs|CUTA_ENST00000488034.1_Frame_Shift_Ins_p.E154fs|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000607266.1_Frame_Shift_Ins_p.E131fs|CUTA_ENST00000488478.1_Frame_Shift_Ins_p.-137fs	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	154					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						GTTCCCCTGTTCCACAGGCAAT	0.515													False	0	False	6:33384506	0	TTTTG	33384507	-	TTTTG	33384506	7	5	83	1	0	1	1	0	0	0	0	0	4087	1783	62	0	82	0	CUTA	6	33384506	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	15779263	33384506	137730561	33	7242											
GPR115	221393	broad.mit.edu	37	chr6	47682152	47682152	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtctttttccattctcAtgtcctccaaatcgatgacc	5	12	2	2			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:47682152A>T	ENST00000283303.2	+	6	1429	c.1171A>T	c.(1171-1173)Atg>Ttg	p.M391L	GPR115_ENST00000371220.1_Missense_Mutation_p.M448L|GPR115_ENST00000327753.3_Missense_Mutation_p.M391L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	391	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTCCATTCTCATGTCCTCCAA	0.463													False	0	False	6:47682152	0	T	47682152	A	T	47682152	3	4	83	1	0	0	0	0	1	0	0	0	6678	217	8	5	1189	5	GPR115	6	47682152	Missense_Mutation	SNP	A	TCGA-IB-7644-01A-11D-2154-08	14297646	47682152	123432915	34	7243											
DST	667	broad.mit.edu	37	chr6	56473888	56473889	+	Frame_Shift_Ins	INS	-	-	TTATTTTC													ttgtggtaggtgacgcagcaINSgaaataatctccttagcttt							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:56473888_56473889insTTATTTTC	ENST00000361203.3	-	36	4911_4912	c.4904_4905insGAAAATAA	c.(4903-4905)tctfs	p.-1635fs	DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Frame_Shift_Ins_p.-1635fs|DST_ENST00000370754.5_Frame_Shift_Ins_p.-1813fs|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Frame_Shift_Ins_p.-1309fs|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Frame_Shift_Ins_p.-1635fs			Q03001	DYST_HUMAN	dystonin						cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTGACGCAGCAGAAATAATCTC	0.401													False	0	True	6:56473888	0	TTATTTTC	56473889	-	TTATTTTC	56473888	7	5	83	1	0	1	1	0	0	0	0	0	4813	203	7	0		0	DST	6	56473888	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	8791736	56473888	114641179	35	7244											
BEND6	221336	broad.mit.edu	37	chr6	56846687	56846688	+	Frame_Shift_Ins	INS	-	-	AAACATGACACATAACATATTCACAACTG													gaggaaaagaacagagacaaINStggactcagaaaatgcaaat							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:56846687_56846688insAAACATGACACATAACATATTCACAACTG	ENST00000370746.3	+	2	348_349	c.79_80insAAACATGACACATAACATATTCACAACTG	c.(79-81)atgfs	p.M27fs	BEND6_ENST00000370750.2_Frame_Shift_Ins_p.M27fs|BEND6_ENST00000370745.1_Frame_Shift_Ins_p.M27fs|BEND6_ENST00000370748.3_Frame_Shift_Ins_p.M27fs	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	27										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AACAGAGACAATGGACTCAGAA	0.347													False	0	False	6:56846687	0	AAACATGACACATAACATATTCACAACTG	56846688	-	AAACATGACACATAACATATTCACAACTG	56846687	7	5	83	1	0	1	1	0	0	0	0	0	1406	101	4	0	81	0	BEND6	6	56846687	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	372799	56846687	114268380	36	7245											
BCLAF1	9774	broad.mit.edu	37	chr6	136597648	136597649	+	Splice_Site	INS	-	-	TTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCAGGATAAAAC													gactcttcatctgtgaacctINSgcgaataagcaaagaagagg							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:136597648_136597649insTTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCAGGATAAAAC	ENST00000531224.1	-	5	1269		c.e5-2		BCLAF1_ENST00000527759.1_Splice_Site|BCLAF1_ENST00000392348.2_Splice_Site|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Splice_Site|BCLAF1_ENST00000527536.1_Splice_Site	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTGTGAACCTGCGAATAAGCA	0.441													False	0	False	6:136597648	0	TTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCAGGATAAAAC	136597649	-	TTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCAGGATAAAAC	136597648	8	5	83	1	0	1	1	0	0	0	1	0	1387	1594	55	0	1783	0	BCLAF1	6	136597648	Splice_Site	INS	-	TCGA-IB-7644-01A-11D-2154-08	79750961	136597648	34517419	37	7246											
KIAA1244	57221	broad.mit.edu	37	chr6	138528250	138528250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcccaacatgctttggCagggatgcaggtatggcttt	14	9	0	0			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:138528250C>T	ENST00000251691.4	+	3	375	c.209C>T	c.(208-210)gCa>gTa	p.A70V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	70					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CATGCTTTGGCAGGGATGCAG	0.443													False	0	False	6:138528250	0	T	138528250	C	T	138528250	3	4	83	1	0	0	0	0	1	0	0	0	8267	710	25	2	219	2	KIAA1244	6	138528250	Missense_Mutation	SNP	C	TCGA-IB-7644-01A-11D-2154-08	1930602	138528250	32586817	38	7247											
SYNJ2	8871	broad.mit.edu	37	chr6	158490618	158490618	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcagaaagccatctcacgctCtcatagatacattctgttga	6	11	4	3			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:158490618C>G	ENST00000355585.4	+	14	1928	c.1853C>G	c.(1852-1854)tCt>tGt	p.S618C	SYNJ2_ENST00000367121.3_Missense_Mutation_p.S618C|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S618C	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	618							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATCTCACGCTCTCATAGATAC	0.453													False	0	False	6:158490618	0	G	158490618	C	G	158490618	3	3	83	1	0	0	0	0	1	0	0	0	15535	913	32	5	1907	5	SYNJ2	6	158490618	Missense_Mutation	SNP	C	TCGA-IB-7644-01A-11D-2154-08	19962368	158490618	12624449	39	7248											
WTAP	9589	broad.mit.edu	37	chr6	160174521	160174521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaagttaatggcgaagtGtcgaatgcttatccaggaga	12	5	0	1	rs112093927		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:160174521G>A	ENST00000358372.4	+	7	2239	c.482G>A	c.(481-483)tGt>tAt	p.C161Y	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	161					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ATGGCGAAGTGTCGAATGCTT	0.423													False	0	False	6:160174521	0	A	160174521	G	A	160174521	3	1	83	1	0	0	0	0	1	0	0	0	17493	1377	48	2	508	2	WTAP	6	160174521	Missense_Mutation	SNP	G	TCGA-IB-7644-01A-11D-2154-08	1683903	160174521	10940546	40	7249											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	83	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-IB-7644-01A-11D-2154-08		44153778	114984885	41	7250											
ZMIZ2	83637	broad.mit.edu	37	chr7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-													aagcggcagctgctgcagctGtggctgctgcggcagccact					rs142075074	by1000genomes	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678													False	1	False	7:44797065	0	-	44797109	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	44797065	7	5	83	1	0	1	0	1	0	0	0	0	17780	1377	48	0	471	0	ZMIZ2	7	44797065	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	TCGA-IB-7644-01A-11D-2154-08	643287	44797065	114341598	42	7251											
TRIM73	0	broad.mit.edu	37	chr7	75028266	75028266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaggaccggcttcagtgtCccatctgcctggaggtcttc	13	12	3	0			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:75028266C>T	ENST00000323819.3	+	2	249	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000437796.1_Missense_Mutation_p.P17S|TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000447409.2_Missense_Mutation_p.P17S|TRIM73_ENST00000430211.1_Missense_Mutation_p.P17S	NM_198924.2	NP_944606.2	Q86UV6	TRI74_HUMAN	tripartite motif containing 73	17						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCTTCAGTGTCCCATCTGCCT	0.602													False	0	True	7:75028266	0	T	75028266	C	T	75028266	3	4	83	1	0	0	0	0	1	0	0	0	16629	855	30	2	51	2	TRIM73	7	75028266	Missense_Mutation	SNP	C	TCGA-IB-7644-01A-11D-2154-08	30231201	75028266	84110397	43	7252											
PTK2	5747	broad.mit.edu	37	chr8	141774449	141774450	+	Translation_Start_Site	INS	-	-	AAGTTATTGATACTTACTGTCTTT													tctgacctcctggtatttcaINStataattaaagtaggcaaag							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr8:141774449_141774450insAAGTTATTGATACTTACTGTCTTT	ENST00000519465.1	-	0	172_173				PTK2_ENST00000522684.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000520151.1_Start_Codon_Ins			Q05397	FAK1_HUMAN	protein tyrosine kinase 2						axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTGGTATTTCATATAATTAAAG	0.327													False	0	False	8:141774449	0	AAGTTATTGATACTTACTGTCTTT	141774450	-	AAGTTATTGATACTTACTGTCTTT	141774449	6	5	83	1	0	1	1	0	0	0	0	0	12839	232	8	0		0	PTK2	8	141774449	Translation_Start_Site	INS	-	TCGA-IB-7644-01A-11D-2154-08		141774449	4589573	44	7253											
KIF24	347240	broad.mit.edu	37	chr9	34310929	34310930	+	Frame_Shift_Ins	INS	-	-	AATAAATTTTATCTTTC													ggaatcatctggtagcatgtINSgttctagcacttttaggtaa							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:34310929_34310930insAATAAATTTTATCTTTC	ENST00000402558.2	-	1	439_440	c.415_416insGAAAGATAAAATTTATT	c.(415-417)cacfs	p.H139fs	KIF24_ENST00000345050.2_Frame_Shift_Ins_p.H139fs|KIF24_ENST00000379174.3_Frame_Shift_Ins_p.H139fs|KIF24_ENST00000379166.2_Frame_Shift_Ins_p.H139fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	139					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TGGTAGCATGTGTTCTAGCACT	0.396													False	0	False	9:34310929	0	AATAAATTTTATCTTTC	34310930	-	AATAAATTTTATCTTTC	34310929	7	5	83	1	0	1	1	0	0	0	0	0	8342	1696	59	0	3738	0	KIF24	9	34310929	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08		34310929	106902502	45	7254											
ZNF484	83744	broad.mit.edu	37	chr9	95608681	95608682	+	Frame_Shift_Ins	INS	-	-	A													gtttctgtttagtatgaattINSttctggtgtttaataagatt							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:95608681_95608682insA	ENST00000375495.3	-	5	2535_2536	c.2387_2388insT	c.(2386-2388)aaafs	p.K796fs	ZNF484_ENST00000395505.2_Frame_Shift_Ins_p.K760fs|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Frame_Shift_Ins_p.K798fs|ZNF484_ENST00000332591.6_Frame_Shift_Ins_p.K760fs	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	796					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TAGTATGAATTTTCTGGTGTTT	0.416													False	0	True	9:95608681	0	A	95608682	-	A	95608681	7	5	83	1	0	1	1	0	0	0	0	0	18020	1838	64	0	174	0	ZNF484	9	95608681	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	61297752	95608681	45604750	46	7255	128	2									
ZNF484	83744	broad.mit.edu	37	chr9	95608682	95608683	+	Frame_Shift_Ins	INS	-	-	GAACATCTGGA													tttctgtttagtatgaatttINStctggtgtttaataagattt							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:95608682_95608683insGAACATCTGGA	ENST00000375495.3	-	5	2534_2535	c.2386_2387insTCCAGATGTTC	c.(2386-2388)aaafs	p.K796fs	ZNF484_ENST00000395505.2_Frame_Shift_Ins_p.K760fs|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Frame_Shift_Ins_p.K798fs|ZNF484_ENST00000332591.6_Frame_Shift_Ins_p.K760fs	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	796					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AGTATGAATTTTCTGGTGTTTA	0.411													False	0	True	9:95608682	0	GAACATCTGGA	95608683	-	GAACATCTGGA	95608682	7	5	83	1	0	1	1	0	0	0	0	0	18020	1841	64	0	175	0	ZNF484	9	95608682	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	1	95608682	45604749	47	7256	128	2									
SMC2	10592	broad.mit.edu	37	chr9	106864424	106864425	+	Frame_Shift_Ins	INS	-	-	GAATAACTCAAAATTG													gtctgagaatgataaaaaaaINStaaaagcacttaatcatgaa							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:106864424_106864425insGAATAACTCAAAATTG	ENST00000286398.7	+	8	1108_1109	c.820_821insGAATAACTCAAAATTG	c.(820-822)atafs	p.I274fs	SMC2_ENST00000374793.3_Frame_Shift_Ins_p.I274fs|SMC2_ENST00000303219.8_Frame_Shift_Ins_p.I274fs|SMC2_ENST00000374787.3_Frame_Shift_Ins_p.I274fs	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	274					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGATAAAAAAATAAAAGCACTT	0.307													False	0	True	9:106864424	0	GAATAACTCAAAATTG	106864425	-	GAATAACTCAAAATTG	106864424	7	5	83	1	0	1	1	0	0	0	0	0	14863	101	4	0	846	0	SMC2	9	106864424	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	11255742	106864424	34349007	48	7257											
TSC1	0	broad.mit.edu	37	chr9	135786954	135786955	+	Splice_Site	INS	-	-	TGCT													aaggggtagaagtagcacacINScctaaaatggaagagaagaa					rs146537773	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:135786954_135786955insTGCT	ENST00000298552.3	-	10	1135_1136	c.914_915insAGCA	c.(913-915)ggg>ggAGCAg	p.-305fs	TSC1_ENST00000440111.2_Splice_Site_p.-305fs|TSC1_ENST00000403810.1_Splice_Site_p.-305fs|TSC1_ENST00000545250.1_Splice_Site_p.-254fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1						activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AAGTAGCACACCCTAAAATGGA	0.406			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				False	0	True	9:135786954	0	TGCT	135786955	-	TGCT	135786954	8	5	83	1	0	1	1	0	0	0	1	0	16688	521	18	0	2635	0	TSC1	9	135786954	Splice_Site	INS	-	TCGA-IB-7644-01A-11D-2154-08	28922530	135786954	5426477	49	7258											
IFIT1B	439996	broad.mit.edu	37	chr10	91144276	91144277	+	In_Frame_Ins	INS	-	-	AGTCTTTTCAAA													ataaagcaattacccattatINSttaaaaggtttgaaaataga							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr10:91144276_91144277insAGTCTTTTCAAA	ENST00000371809.3	+	2	1286_1287	c.1206_1207insAGTCTTTTCAAA	c.(1207-1209)tta>AGTCTTTTCAAAtta	p.402_403insSLFK	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	402							binding			endometrium(2)|large_intestine(3)|lung(8)	13						TTACCCATTATTTAAAAGGTTT	0.356													False	0	True	10:91144276	0	AGTCTTTTCAAA	91144277	-	AGTCTTTTCAAA	91144276	7	5	83	1	0	1	1	0	0	0	0	0	7572	1500	52	0	1212	0	IFIT1B	10	91144276	In_Frame_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08		91144276	44390471	50	7259											
TACC2	10579	broad.mit.edu	37	chr10	123844650	123844650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccaaatccatgtacctGtggaacctcaggaagataac	7	12	1	1			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr10:123844650G>A	ENST00000369005.1	+	4	2975	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M	TACC2_ENST00000453444.2_Missense_Mutation_p.V879M|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.V879M|TACC2_ENST00000334433.3_Missense_Mutation_p.V879M|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.V879M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	879						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCATGTACCTGTGGAACCTCA	0.517													False	0	False	10:123844650	0	A	123844650	G	A	123844650	3	1	83	1	0	0	0	0	1	0	0	0	15584	1377	48	2	2645	2	TACC2	10	123844650	Missense_Mutation	SNP	G	TCGA-IB-7644-01A-11D-2154-08	32700374	123844650	11690097	51	7260											
OR6Q1	219952	broad.mit.edu	37	chr11	57799109	57799109	+	Frame_Shift_Del	DEL	C	C	-													atggcaacatcgtctggacaCtgctgcacatccgctcagct					rs34846253		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr11:57799109delC	ENST00000302622.3	+	1	708	c.685delC	c.(685-687)ctgfs	p.L230fs	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CGTCTGGACACTGCTGCACAT	0.532													False	1	False	11:57799109	0	-	57799109	C	-	57799109	7	5	83	1	0	1	0	1	0	0	0	0	11276	564	20	0	687	0	OR6Q1	11	57799109	Frame_Shift_Del	DEL	C	TCGA-IB-7644-01A-11D-2154-08		57799109	77207407	52	7261											
OPCML	4978	broad.mit.edu	37	chr11	132307162	132307162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcgggcgcagcgacatcGttcaacgcgctgcattcgta	11	13	1	0	rs143650226		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr11:132307162G>A	ENST00000331898.7	-	4	1196	c.618C>T	c.(616-618)aaC>aaT	p.N206N	OPCML_ENST00000374778.4_Silent_p.N165N|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.N199N|OPCML_ENST00000541867.1_Silent_p.N206N	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	206	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGCGACATCGTTCAACGCGC	0.552													False	0	False	11:132307162	0	A	132307162	G	A	132307162	2	1	83	1	0	0	0	0	0	0	0	1	10942	1136	40	1		1	OPCML	11	132307162	Silent	SNP	G	TCGA-IB-7644-01A-11D-2154-08	74508053	132307162	2699354	53	7262											
TAS2R7	50837	broad.mit.edu	37	chr12	10954461	10954462	+	Frame_Shift_Ins	INS	-	-	TATTCTAAAAGGA													aggagaaggaaggaaatgacINSagctttcagggctctcacat							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:10954461_10954462insTATTCTAAAAGGA	ENST00000240687.2	-	1	764_765	c.708_709insTCCTTTTAGAATA	c.(706-711)gctgtcfs	p.V237fs		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	237					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						AAGGAAATGACAGCTTTCAGGG	0.5													False	0	False	12:10954461	0	TATTCTAAAAGGA	10954462	-	TATTCTAAAAGGA	10954461	7	5	83	1	0	1	1	0	0	0	0	0	15668	478	17	0	251	0	TAS2R7	12	10954461	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08		10954461	122897434	54	7263											
SLCO1C1	53919	broad.mit.edu	37	chr12	20854386	20854386	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttattgatggtagtttTgaaattggtaggtattacag	13	1	0	2			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:20854386T>C	ENST00000381552.1	+	3	632	c.264T>C	c.(262-264)ttT>ttC	p.F88F	SLCO1C1_ENST00000545604.1_Silent_p.F88F|SLCO1C1_ENST00000266509.2_Silent_p.F88F|SLCO1C1_ENST00000540354.1_Silent_p.F88F|SLCO1C1_ENST00000545102.1_Intron			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	88					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					ATGGTAGTTTTGAAATTGGTA	0.418													False	0	True	12:20854386	0	C	20854386	T	C	20854386	2	2	83	1	0	0	0	0	0	0	0	1	14805	1809	63	4		4	SLCO1C1	12	20854386	Silent	SNP	T	TCGA-IB-7644-01A-11D-2154-08	9899925	20854386	112997509	55	7264											
SLCO1B3	28234	broad.mit.edu	37	chr12	21011409	21011409	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgtatttgtaagttactttgGatctaaactacacagaccga	7	7	1	1			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:21011409G>C	ENST00000381545.3	+	5	482	c.263G>C	c.(262-264)gGa>gCa	p.G88A	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G88A|LST3_ENST00000381541.3_Missense_Mutation_p.G88A|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G88A|SLCO1B3_ENST00000545880.1_3'UTR|LST3_ENST00000540229.1_Missense_Mutation_p.G88A|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G88A	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	88					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGTTACTTTGGATCTAAACTA	0.308													False	0	False	12:21011409	0	C	21011409	G	C	21011409	3	2	83	1	0	0	0	0	1	0	0	0	14804	1174	41	5	273	5	SLCO1B3	12	21011409	Missense_Mutation	SNP	G	TCGA-IB-7644-01A-11D-2154-08	157023	21011409	112840486	56	7265											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	83	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-7644-01A-11D-2154-08	4386875	25398284	108453611	57	7266											
RAP1B	5908	broad.mit.edu	37	chr12	69050230	69050231	+	Frame_Shift_Ins	INS	-	-	TA													aaaaataaatgttaatgaggINStatggtcaaatatacttaaa							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:69050230_69050231insTA	ENST00000541216.1	+	6	514_515	c.469_470insTA	c.(469-471)gtafs	p.V157fs	RAP1B_ENST00000250559.9_Splice_Site|RAP1B_ENST00000463493.1_Splice_Site|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000542145.1_Splice_Site|RAP1B_ENST00000341355.5_Splice_Site|RAP1B_ENST00000393436.5_Splice_Site|RAP1B_ENST00000543393.1_Splice_Site|RAP1B_ENST00000540209.1_Splice_Site|RAP1B_ENST00000378985.3_Splice_Site|RAP1B_ENST00000539091.1_Splice_Site|RAP1B_ENST00000450214.2_Splice_Site|RAP1B_ENST00000537460.1_Splice_Site			P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	157					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TGTTAATGAGGTATGGTCAAAT	0.327													False	1	False	12:69050230	0	TA	69050231	-	TA	69050230	7	5	83	1	0	1	1	0	0	0	0	0	13115	1275	44	0	487	0	RAP1B	12	69050230	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	43651946	69050230	64801665	58	7267											
VPS29	51699	broad.mit.edu	37	chr12	110933972	110933972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggcaaactgttgcaccGgtgtgggatgtgcagatctc	14	9	1	1			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:110933972G>A	ENST00000549578.1	-	2	105	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	VPS29_ENST00000546588.1_Missense_Mutation_p.R46W|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.R18W|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000447578.2_5'UTR	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	14					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTGTTGCACCGGTGTGGGATG	0.398													False	0	False	12:110933972	0	A	110933972	G	A	110933972	3	1	83	1	0	0	0	0	1	0	0	0	17284	1115	39	1	520	1	VPS29	12	110933972	Missense_Mutation	SNP	G	TCGA-IB-7644-01A-11D-2154-08	41883742	110933972	22917923	59	7268											
CENPJ	55835	broad.mit.edu	37	chr13	25480645	25480645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccaccctgtgcagccagtatCgcaaggttttggacactcag	10	13	1	0			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:25480645C>A	ENST00000381884.4	-	7	1716	c.1531G>T	c.(1531-1533)Gat>Tat	p.D511Y	CENPJ_ENST00000545981.1_Missense_Mutation_p.D511Y	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	511					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CAGCCAGTATCGCAAGGTTTT	0.458													False	0	False	13:25480645	0	A	25480645	C	A	25480645	3	1	83	1	0	0	0	0	1	0	0	0	3257	884	31	3	2529	3	CENPJ	13	25480645	Missense_Mutation	SNP	C	TCGA-IB-7644-01A-11D-2154-08		25480645	89689233	60	7269											
BRCA2	675	broad.mit.edu	37	chr13	32932061	32932062	+	In_Frame_Ins	INS	-	-	AAAGTAAACATG													aggctggaaaagaagaatttINStataggtactctatgcaaaa							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:32932061_32932062insAAAGTAAACATG	ENST00000380152.3	+	16	8033_8034	c.7800_7801insAAAGTAAACATG	c.(7801-7803)tat>AAAGTAAACATGtat	p.2600_2601insKVNM	BRCA2_ENST00000544455.1_In_Frame_Ins_p.2600_2601insKVNM			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2600					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGAAGAATTTTATAGGTACTC	0.376			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			False	0	True	13:32932061	0	AAAGTAAACATG	32932062	-	AAAGTAAACATG	32932061	7	5	83	1	0	1	1	0	0	0	0	0	1506	1838	64	0	7858	0	BRCA2	13	32932061	In_Frame_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	7451416	32932061	82237817	61	7270											
UGGT2	55757	broad.mit.edu	37	chr13	96651510	96651510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtattctgtactcttaaTtgctagctccacaccatacc	4	12	2	0			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:96651510T>C	ENST00000376747.3	-	6	782	c.712A>G	c.(712-714)Att>Gtt	p.I238V	UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376712.4_Missense_Mutation_p.I238V|UGGT2_ENST00000376714.3_Missense_Mutation_p.I238V|UGGT2_ENST00000397618.3_Missense_Mutation_p.I238V	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	238					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTACTCTTAATTGCTAGCTCC	0.348													False	0	False	13:96651510	0	C	96651510	T	C	96651510	3	2	83	1	0	0	0	0	1	0	0	0	17026	1493	52	4	3974	4	UGGT2	13	96651510	Missense_Mutation	SNP	T	TCGA-IB-7644-01A-11D-2154-08	63719449	96651510	18518368	62	7271											
RALGAPA1	253959	broad.mit.edu	37	chr14	36096790	36096791	+	Frame_Shift_Ins	INS	-	-	TGTTA													agccacttacaggaggtgggINSccatacagtatagcagaatc							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr14:36096790_36096791insTGTTA	ENST00000382366.3	-	34	4981_4982	c.4883_4884insTAACA	c.(4882-4884)ggcfs	p.-1628fs	RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.-1615fs|RALGAPA1_ENST00000258840.6_Frame_Shift_Ins_p.-1662fs|RALGAPA1_ENST00000389698.3_Frame_Shift_Ins_p.-1615fs			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)						activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGGAGGTGGGCCATACAGTAT	0.441													False	0	True	14:36096790	0	TGTTA	36096791	-	TGTTA	36096790	7	5	83	1	0	1	1	0	0	0	0	0	13092	1190	42	0	1450	0	RALGAPA1	14	36096790	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08		36096790	71252750	63	7272											
FLRT2	23768	broad.mit.edu	37	chr14	86089482	86089482	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acagcatgggctccccctttCtgctggcgggcttgatcggg	14	13	1	1			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr14:86089482C>A	ENST00000330753.4	+	2	2391	c.1624C>A	c.(1624-1626)Ctg>Atg	p.L542M	FLRT2_ENST00000554746.1_Missense_Mutation_p.L542M	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	542					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTCCCCCTTTCTGCTGGCGGG	0.587													False	0	True	14:86089482	0	A	86089482	C	A	86089482	3	1	83	1	0	0	0	0	1	0	0	0	5979	912	32	3	1626	3	FLRT2	14	86089482	Missense_Mutation	SNP	C	TCGA-IB-7644-01A-11D-2154-08	49992692	86089482	21260058	64	7273											
TYRO3	7301	broad.mit.edu	37	chr15	41857341	41857342	+	Splice_Site	INS	-	-	G													cagtcctgtacagttcaggtINSaggctctccgggccgggcca							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579													False	0	False	15:41857341	0	G	41857342	-	G	41857341	8	5	83	1	0	1	1	0	0	0	1	0	16898	1652	57	0	807	0	TYRO3	15	41857341	Splice_Site	INS	-	TCGA-IB-7644-01A-11D-2154-08		41857341	60674051	65	7274											
MYO9A	4649	broad.mit.edu	37	chr15	72208758	72208758	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttttttcttcttgtgtaaatGaagaagagacttggtaatgc	9	4	2	3			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr15:72208758G>C	ENST00000356056.5	-	19	3110	c.2638C>G	c.(2638-2640)Cat>Gat	p.H880D	MYO9A_ENST00000566885.1_Missense_Mutation_p.H500D|MYO9A_ENST00000564571.1_Missense_Mutation_p.H880D|MYO9A_ENST00000424560.1_Missense_Mutation_p.H880D|MYO9A_ENST00000444904.1_Missense_Mutation_p.H861D|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	880					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGTGTAAATGAAGAAGAGAC	0.353													False	0	False	15:72208758	0	C	72208758	G	C	72208758	3	2	83	1	0	0	0	0	1	0	0	0	10151	1290	45	5	5104	5	MYO9A	15	72208758	Missense_Mutation	SNP	G	TCGA-IB-7644-01A-11D-2154-08	30351417	72208758	30322634	66	7275											
IGFALS	3483	broad.mit.edu	37	chr16	1842049	1842049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtgcaggtggcacaGgttctctaggcccagcagcg	14	13	1	0			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:1842049G>A	ENST00000415638.3	-	2	563	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	IGFALS_ENST00000568221.1_3'UTR|IGFALS_ENST00000215539.3_Silent_p.L124L	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	124					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGGTGGCACAGGTTCTCTAGG	0.692													False	0	False	16:1842049	0	A	1842049	G	A	1842049	2	1	83	1	0	0	0	0	0	0	0	1	7627	991	35	2		2	IGFALS	16	1842049	Silent	SNP	G	TCGA-IB-7644-01A-11D-2154-08		1842049	88512704	67	7276											
VWA3A	146177	broad.mit.edu	37	chr16	22161152	22161158	+	Frame_Shift_Del	DEL	ACACGCT	ACACGCT	-													gagctttcagtcatggcaggAcacgctggtggagaccacag							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	ACACGCT	ACACGCT	-	-	ACACGCT	ACACGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:22161152_22161158delACACGCT	ENST00000389398.5	+	29	3125_3131	c.3029_3035delACACGCT	c.(3028-3036)gacacgctgfs	p.DTL1010fs	VWA3A_ENST00000563755.1_Frame_Shift_Del_p.DTL112fs|VWA3A_ENST00000389397.4_Frame_Shift_Del_p.DTL112fs	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1010	VWFA 2.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCATGGCAGGACACGCTGGTGGAGACC	0.546													False	1	False	16:22161152	0	-	22161158	ACACGCT	-	22161152	7	5	83	1	0	1	0	1	0	0	0	0	17324	275	10	0	3143	0	VWA3A	16	22161152	Frame_Shift_Del	DEL	ACACGCT	TCGA-IB-7644-01A-11D-2154-08	20319103	22161152	68193601	68	7277											
RBL2	5934	broad.mit.edu	37	chr16	53488708	53488709	+	Frame_Shift_Ins	INS	-	-	CATTTCAA													ggttcaggaacagagactgcINStgaaagggtgcagatgaaaa							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:53488708_53488709insCATTTCAA	ENST00000262133.6	+	8	1270_1271	c.1133_1134insCATTTCAA	c.(1132-1137)gctgaafs	p.E379fs	RBL2_ENST00000544545.1_Frame_Shift_Ins_p.E163fs|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	379					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACAGAGACTGCTGAAAGGGTGC	0.465													False	0	False	16:53488708	0	CATTTCAA	53488709	-	CATTTCAA	53488708	7	5	83	1	0	1	1	0	0	0	0	0	13189	797	28	0	1163	0	RBL2	16	53488708	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	31327556	53488708	36866045	69	7278											
TNFSF13	8741	broad.mit.edu	37	chr17	7464116	7464117	+	Frame_Shift_Ins	INS	-	-	TAGCGGT													gcgaaacttaacctctctccINSacatggaaccttcctggggt							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:7464116_7464117insTAGCGGT	ENST00000349228.4	+	5	1235_1236	c.671_672insTAGCGGT	c.(670-675)ccacatfs	p.H225fs	TNFSF12_ENST00000557233.1_Frame_Shift_Ins_p.H321fs|TNFSF13_ENST00000396542.1_Frame_Shift_Ins_p.H196fs|TNFSF13_ENST00000483039.1_Frame_Shift_Ins_p.H105fs|TNFSF13_ENST00000396545.4_Frame_Shift_Ins_p.H241fs|TNFSF13_ENST00000380535.4_Frame_Shift_Ins_p.H213fs|TNFSF13_ENST00000338784.4_Frame_Shift_Ins_p.H241fs|TNFSF12-TNFSF13_ENST00000293826.4_Frame_Shift_Ins_p.H321fs	NM_172087.2	NP_742084.1			tumor necrosis factor (ligand) superfamily, member 13											large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				AACCTCTCTCCACATGGAACCT	0.47											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:7464116	0	TAGCGGT	7464117	-	TAGCGGT	7464116	7	5	83	1	0	1	1	0	0	0	0	0	16387	594	21	0	741	0	TNFSF13	17	7464116	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08		7464116	73731094	70	7279											
TP53	7157	broad.mit.edu	37	chr17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaatgcaagaagcccagaCggaaaccgtagctgccctgg	12	12	0	3	rs11540654		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAAGCCCAGACGGAAACCGTA	0.612		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)			False	0	False	17:7579358	0	A	7579358	C	A	7579358	3	1	83	1	0	0	0	0	1	0	0	0	16464	536	19	3	973	3	TP53	17	7579358	Missense_Mutation	SNP	C	TCGA-IB-7644-01A-11D-2154-08	115242	7579358	73615852	71	7280											
VTN	7448	broad.mit.edu	37	chr17	26696428	26696428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcctcactgccttttcgTccagttcatagcagtactgc	8	14	2	0			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:26696428T>C	ENST00000226218.4	-	4	1169	c.551A>G	c.(550-552)gAc>gGc	p.D184G	VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	184	Hemopexin-like 1.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	TGCCTTTTCGTCCAGTTCATA	0.617													False	0	False	17:26696428	0	C	26696428	T	C	26696428	3	2	83	1	0	0	0	0	1	0	0	0	17321	1667	58	4	905	4	VTN	17	26696428	Missense_Mutation	SNP	T	TCGA-IB-7644-01A-11D-2154-08	19117070	26696428	54498782	72	7281											
HELZ	9931	broad.mit.edu	37	chr17	65103458	65103459	+	In_Frame_Ins	INS	-	-	AAAAATATCAGTATTTATTGATTTGATAATAGGAAGGCACAGATC													ggccccattaggtgattctgINSttgcaagttagcaaaagtcc							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:65103458_65103459insAAAAATATCAGTATTTATTGATTTGATAATAGGAAGGCACAGATC	ENST00000358691.5	-	31	5233_5234	c.5067_5068insGATCTGTGCCTTCCTATTATCAAATCAATAAATACTGATATTTTT	c.(5065-5070)caacag>caaGATCTGTGCCTTCCTATTATCAAATCAATAAATACTGATATTTTTcag	p.1689_1690QQ>QDLCLPIIKSINTDIFQ	HELZ_ENST00000580168.1_In_Frame_Ins_p.1690_1691QQ>QDLCLPIIKSINTDIFQ	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGTGATTCTGTTGCAAGTTAG	0.485													False	0	False	17:65103458	0	AAAAATATCAGTATTTATTGATTTGATAATAGGAAGGCACAGATC	65103459	-	AAAAATATCAGTATTTATTGATTTGATAATAGGAAGGCACAGATC	65103458	7	5	83	1	0	1	1	0	0	0	0	0	7096	1386	48	0	772	0	HELZ	17	65103458	In_Frame_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08	38407030	65103458	16091752	73	7282											
MIB1	57534	broad.mit.edu	37	chr18	19429320	19429321	+	Frame_Shift_Ins	INS	-	-	TATTACAAATTCACTAA													tgtcaagaaatgcctcatctINSgtaaagaacaggttcaatcc							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:19429320_19429321insTATTACAAATTCACTAA	ENST00000261537.6	+	17	2821_2822	c.2557_2558insTATTACAAATTCACTAA	c.(2557-2559)tgtfs	p.C853fs	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	853					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATGCCTCATCTGTAAAGAACAG	0.327													False	0	False	18:19429320	0	TATTACAAATTCACTAA	19429321	-	TATTACAAATTCACTAA	19429320	7	5	83	1	0	1	1	0	0	0	0	0	9633	1580	55	0	2623	0	MIB1	18	19429320	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08		19429320	58647928	74	7283											
SMAD4	4089	broad.mit.edu	37	chr18	48575671	48575671	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tttaaacaattaagatctctCaggattaacactgcagagta	6	7	2	2			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:48575671C>G	ENST00000342988.3	+	4	969	c.431C>G	c.(430-432)tCa>tGa	p.S144*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S144*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	144					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.S144*(5)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAAGATCTCTCAGGATTAACA	0.294													False	0	True	18:48575671	0	G	48575671	C	G	48575671	4	3	83	1	0	0	0	0	0	1	0	0	14840	838	29	5	441	5	SMAD4	18	48575671	Nonsense_Mutation	SNP	C	TCGA-IB-7644-01A-11D-2154-08	29146351	48575671	29501577	75	7284											
SERPINB5	5268	broad.mit.edu	37	chr18	61156680	61156680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcagatcaacaactcaaTtaaggatctcacagatggca	8	9	4	2			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:61156680T>C	ENST00000382771.4	+	4	699	c.407T>C	c.(406-408)aTt>aCt	p.I136T	SERPINB5_ENST00000489441.1_Missense_Mutation_p.I136T	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	136					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AACAACTCAATTAAGGATCTC	0.388													False	0	False	18:61156680	0	C	61156680	T	C	61156680	3	2	83	1	0	0	0	0	1	0	0	0	14185	1493	52	4	417	4	SERPINB5	18	61156680	Missense_Mutation	SNP	T	TCGA-IB-7644-01A-11D-2154-08	12581009	61156680	16920568	76	7285											
PLIN4	729359	broad.mit.edu	37	chr19	4511376	4511377	+	Frame_Shift_Del	DEL	CA	CA	-													agcaccggtcaccccactgcCaagggtgttctttgtacctg					rs71263980		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:4511376_4511377delCA	ENST00000301286.3	-	3	2552_2553	c.2553_2554delTG	c.(2551-2556)cttggcfs	p.G852fs		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	852	27 X 33 AA approximate tandem repeat.			NTLG -> DTVC (in Ref. 2; BAB67774).		lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACCCCACTGCCAAGGGTGTTCT	0.584													False	1	False	19:4511376	0	-	4511377	CA	-	4511376	7	5	83	1	0	1	0	1	0	0	0	0	12161	594	21	0	1535	0	PLIN4	19	4511376	Frame_Shift_Del	DEL	CA	TCGA-IB-7644-01A-11D-2154-08		4511376	54617607	77	7286											
CACNA1A	773	broad.mit.edu	37	chr19	13445253	13445253	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaatctgttgttgccgcctCagcttcagaaaagcccgccg	9	14	4	1			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:13445253C>T	ENST00000360228.5	-	8	1136	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L	CACNA1A_ENST00000573710.2_Silent_p.L379L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	379					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTTGCCGCCTCAGCTTCAGAA	0.517													False	0	False	19:13445253	0	T	13445253	C	T	13445253	2	4	83	1	0	0	0	0	0	0	0	1	2558	813	29	2		2	CACNA1A	19	13445253	Silent	SNP	C	TCGA-IB-7644-01A-11D-2154-08	8933877	13445253	45683730	78	7287											
SPTBN4	57731	broad.mit.edu	37	chr19	41063285	41063285	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accctgagagcctttgagcaTgacctgcagctcctcgtgtc	10	14	0	3			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:41063285T>C	ENST00000352632.3	+	26	5732	c.5646T>C	c.(5644-5646)caT>caC	p.H1882H	SPTBN4_ENST00000392025.1_Silent_p.H625H|SPTBN4_ENST00000595535.1_Silent_p.H1882H|SPTBN4_ENST00000598249.1_Silent_p.H1882H|SPTBN4_ENST00000338932.3_Silent_p.H1882H|SPTBN4_ENST00000392023.1_Silent_p.H558H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1882					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTTTGAGCATGACCTGCAGC	0.667													False	0	False	19:41063285	0	C	41063285	T	C	41063285	2	2	83	1	0	0	0	0	0	0	0	1	15203	1461	51	4		4	SPTBN4	19	41063285	Silent	SNP	T	TCGA-IB-7644-01A-11D-2154-08	27618032	41063285	18065698	79	7288											
RALGAPB	57148	broad.mit.edu	37	chr20	37121723	37121724	+	Frame_Shift_Ins	INS	-	-	TCTCAGTAGACTGATTT													gccagttattaaagagcctaINSatcaatatgttcaaactata							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr20:37121723_37121724insTCTCAGTAGACTGATTT	ENST00000262879.6	+	3	621_622	c.337_338insTCTCAGTAGACTGATTT	c.(337-339)aatfs	p.N113fs	RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.N113fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.N113fs|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.N113fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	113					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAAAGAGCCTAATCAATATGTT	0.347													False	0	False	20:37121723	0	TCTCAGTAGACTGATTT	37121724	-	TCTCAGTAGACTGATTT	37121723	7	5	83	1	0	1	1	0	0	0	0	0	13094	362	13	0	343	0	RALGAPB	20	37121723	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08		37121723	25903797	80	7289											
KCNB1	3745	broad.mit.edu	37	chr20	47990605	47990608	+	Frame_Shift_Del	DEL	TTTC	TTTC	-													aaaggacttacttgagctggTttcagacagtgtcctctttg							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	TTTC	TTTC	-	-	TTTC	TTTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr20:47990605_47990608delTTTC	ENST00000371741.4	-	2	1655_1658	c.1489_1492delGAAA	c.(1489-1494)gaaaccfs	p.ET497fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	497					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTTGAGCTGGTTTCAGACAGTGTC	0.436													False	1	True	20:47990605	0	-	47990608	TTTC	-	47990605	7	5	83	1	0	1	0	1	0	0	0	0	8062	1725	60	0	1088	0	KCNB1	20	47990605	Frame_Shift_Del	DEL	TTTC	TCGA-IB-7644-01A-11D-2154-08	10868882	47990605	15034915	81	7290											
ADNP	23394	broad.mit.edu	37	chr20	49510730	49510730	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taactatttcataaagaggaTctcggtaagtgcacttctta	7	7	3	1			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr20:49510730T>A	ENST00000396029.3	-	5	1088	c.521A>T	c.(520-522)gAt>gTt	p.D174V	ADNP_ENST00000371602.4_Missense_Mutation_p.D174V|ADNP_ENST00000349014.3_Missense_Mutation_p.D174V|ADNP_ENST00000396032.3_Missense_Mutation_p.D174V	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	174						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATAAAGAGGATCTCGGTAAGT	0.398													False	0	False	20:49510730	0	A	49510730	T	A	49510730	3	1	83	1	0	0	0	0	1	0	0	0	323	1435	50	5	2791	5	ADNP	20	49510730	Missense_Mutation	SNP	T	TCGA-IB-7644-01A-11D-2154-08	1520125	49510730	13514790	82	7291											
DNAJB7	150353	broad.mit.edu	37	chr22	41258054	41258055	+	Translation_Start_Site	INS	-	-	GGTAACCAACATAGAGGAGGAAAAACAAAGATTACAGTGGCTACTATTTGGAA													ttgagaaccgtggtttcctcINSagctcaggctctgctggtgg							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr22:41258054_41258055insGGTAACCAACATAGAGGAGGAAAAACAAAGATTACAGTGGCTACTATTTGGAA	ENST00000307221.4	-	0	75_76				XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7						protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGGTTTCCTCAGCTCAGGCTC	0.421													False	0	True	22:41258054	0	GGTAACCAACATAGAGGAGGAAAAACAAAGATTACAGTGGCTACTATTTGGAA	41258055	-	GGTAACCAACATAGAGGAGGAAAAACAAAGATTACAGTGGCTACTATTTGGAA	41258054	6	5	83	1	0	1	1	0	0	0	0	0	4655	841	29	0		0	DNAJB7	22	41258054	Translation_Start_Site	INS	-	TCGA-IB-7644-01A-11D-2154-08		41258054	10046512	83	7292											
WNT7B	7477	broad.mit.edu	37	chr22	46327243	46327243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtacgtgaaggcagcctcaCggctccctgcggggacagac	14	14	1	2			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr22:46327243C>T	ENST00000339464.4	-	3	679	c.305G>A	c.(304-306)cGt>cAt	p.R102H	WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H|WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H|WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	102					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCCTCACGGCTCCCTGC	0.701													False	0	False	22:46327243	0	T	46327243	C	T	46327243	3	4	83	1	0	0	0	0	1	0	0	0	17479	536	19	1	752	1	WNT7B	22	46327243	Missense_Mutation	SNP	C	TCGA-IB-7644-01A-11D-2154-08	5069189	46327243	4977323	84	7293											
HUWE1	10075	broad.mit.edu	37	chrX	53584360	53584361	+	Frame_Shift_Ins	INS	-	-	GTTCT													acctgagagattctgttcagINStggagtcatttgacttagat							TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chrX:53584360_53584361insGTTCT	ENST00000342160.3	-	59	8645_8646	c.8188_8189insAGAAC	c.(8188-8190)actfs	p.T2730fs	HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.T2730fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2730					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATTCTGTTCAGTGGAGTCATTT	0.431													False	0	False	X:53584360	0	GTTCT	53584361	-	GTTCT	53584360	7	5	83	1	0	1	1	0	0	0	0	0	7511	1029	36	0	5035	0	HUWE1	23	53584360	Frame_Shift_Ins	INS	-	TCGA-IB-7644-01A-11D-2154-08		53584360	101686200	85	7294											
PRPS1	5631	broad.mit.edu	37	chrX	106890883	106890883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttatgccatcttgactcatgGaatcttctccggtcctgcta	7	12	4	1			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chrX:106890883G>A	ENST00000372435.4	+	6	874	c.752G>A	c.(751-753)gGa>gAa	p.G251E	PRPS1_ENST00000543248.1_Missense_Mutation_p.G251E|PRPS1_ENST00000372428.4_Missense_Mutation_p.G184E|PRPS1_ENST00000372418.1_Missense_Mutation_p.G151E	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	251					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TTGACTCATGGAATCTTCTCC	0.443													False	0	False	X:106890883	0	A	106890883	G	A	106890883	3	1	83	1	0	0	0	0	1	0	0	0	12654	1174	41	2	774	2	PRPS1	23	106890883	Missense_Mutation	SNP	G	TCGA-IB-7644-01A-11D-2154-08	53306523	106890883	48379677	86	7295											
CROCC	9696	broad.mit.edu	37	chr1	17250968	17250968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaagtacaatgcggtcagCgagagggtgggtgccgccca	15	9	1	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:17250968C>T	ENST00000375541.5	+	3	414	c.345C>T	c.(343-345)agC>agT	p.S115S	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	115					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ATGCGGTCAGCGAGAGGGTGG	0.647													False	0	False	1:17250968	0	T	17250968	C	T	17250968	2	4	84	1	0	0	0	0	0	0	0	1	3916	767	27	1		1	CROCC	1	17250968	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08		17250968	231999653	1	7296											
DLGAP3	58512	broad.mit.edu	37	chr1	35370343	35370343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgggggcctccagagccCgggccggggtagctgtctcc	18	13	1	1	rs142633506		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:35370343C>T	ENST00000373347.1	-	3	910	c.642G>A	c.(640-642)ccG>ccA	p.P214P	DLGAP3_ENST00000235180.4_Silent_p.P214P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	214					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTCCAGAGCCCGGGCCGGGGT	0.652													False	0	True	1:35370343	0	T	35370343	C	T	35370343	2	4	84	1	0	0	0	0	0	0	0	1	4591	639	23	1		1	DLGAP3	1	35370343	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08	18119375	35370343	213880278	2	7297											
BMP8A	353500	broad.mit.edu	37	chr1	39988771	39988771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgaacgccaccaaccaCgccatcctgcagtccctggt	8	17	0	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:39988771C>T	ENST00000331593.5	+	6	1387	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000450157.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	347					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCACCAACCACGCCATCCTGC	0.677													False	0	True	1:39988771	0	T	39988771	C	T	39988771	2	4	84	1	0	0	0	0	0	0	0	1	1471	535	19	1		1	BMP8A	1	39988771	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08	4618428	39988771	209261850	3	7298											
SLC44A5	204962	broad.mit.edu	37	chr1	75685021	75685021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacaggtacccccgatgtcGccaagaaactgaataaactc	7	12	0	2	rs148437935	by1000genomes	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:75685021G>A	ENST00000370855.5	-	16	1300	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	SLC44A5_ENST00000535611.1_Missense_Mutation_p.A266V|SLC44A5_ENST00000370859.3_Missense_Mutation_p.A396V	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	396						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A396V(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCCCGATGTCGCCAAGAAACT	0.393													False	0	False	1:75685021	0	A	75685021	G	A	75685021	3	1	84	1	0	0	0	0	1	0	0	0	14719	1087	38	1	1119	1	SLC44A5	1	75685021	Missense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08	35696250	75685021	173565600	4	7299											
NBPF14	25832	broad.mit.edu	37	chr1	148012526	148012527	+	Frame_Shift_Ins	INS	-	-	AGAT													cacgtcaagagaaaagccaaINScatgcttttcctccaatgca							TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:148012526_148012527insAGAT	ENST00000369219.1	-	12	1448_1449	c.1432_1433insATCT	c.(1432-1434)gttfs	p.V478fs				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	478	NBPF 5.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGAAAAGCCAACATGCTTTTCC	0.45													False	0	False	1:148012526	0	AGAT	148012527	-	AGAT	148012526	7	5	84	1	0	1	1	0	0	0	0	0	10262	43	2	0	1376	0	NBPF14	1	148012526	Frame_Shift_Ins	INS	-	TCGA-IB-7645-01A-22D-2201-08	72327505	148012526	101238095	5	7300											
KPRP	448834	broad.mit.edu	37	chr1	152732688	152732688	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacaactacaccccccagttCcagttgaggccttcctacag	6	16	0	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:152732688C>T	ENST00000368773.1	+	2	682	c.624C>T	c.(622-624)ttC>ttT	p.F208F	KPRP_ENST00000606109.1_Silent_p.F208F	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	208	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCCCAGTTCCAGTTGAGGC	0.562													False	0	True	1:152732688	0	T	152732688	C	T	152732688	2	4	84	1	0	0	0	0	0	0	0	1	8486	854	30	2		2	KPRP	1	152732688	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08	4720162	152732688	96517933	6	7301											
MYOG	4656	broad.mit.edu	37	chr1	203054999	203054999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctcgtagcctggtggttCgaagccctggaggtggacag	16	11	0	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:203054999C>T	ENST00000241651.4	-	1	165	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	31					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.E31K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCTGGTGGTTCGAAGCCCTGG	0.637													False	0	False	1:203054999	0	T	203054999	C	T	203054999	3	4	84	1	0	0	0	0	1	0	0	0	10157	893	31	1	595	1	MYOG	1	203054999	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	50322311	203054999	46195622	7	7302											
CR1	1378	broad.mit.edu	37	chr1	207669664	207669664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgggccgccggcgcccGgtctccccttctgctgcgga	14	18	2	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:207669664G>A	ENST00000367049.4	+	1	52	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	CR1_ENST00000400960.2_Missense_Mutation_p.G18S|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Missense_Mutation_p.G18S|CR1_ENST00000367052.1_Missense_Mutation_p.G18S|CR1_ENST00000367053.1_Missense_Mutation_p.G18S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	18					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCGGCGCCCGGTCTCCCCTT	0.662													False	0	True	1:207669664	0	A	207669664	G	A	207669664	3	1	84	1	0	0	0	0	1	0	0	0	3863	1116	39	1	54	1	CR1	1	207669664	Missense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08	4614665	207669664	41580957	8	7303											
LAMB3	3914	broad.mit.edu	37	chr1	209799234	209799234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaagggtggcaggccaCgcacaccgggtagcgattac	15	11	0	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:209799234C>T	ENST00000391911.1	-	13	2124	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	LAMB3_ENST00000356082.4_Missense_Mutation_p.V579M|LAMB3_ENST00000367030.3_Missense_Mutation_p.V579M	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	579	Domain II.|Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGGCAGGCCACGCACACCGGG	0.667													False	0	False	1:209799234	0	T	209799234	C	T	209799234	3	4	84	1	0	0	0	0	1	0	0	0	8663	536	19	1	1823	1	LAMB3	1	209799234	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	2129570	209799234	39451387	9	7304											
OR2T10	127069	broad.mit.edu	37	chr1	248756293	248756293	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tggtaggagctggggagcatGtagttgtaaatagcagctcc	15	6	0	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:248756293G>C	ENST00000330500.2	-	1	807	c.777C>G	c.(775-777)taC>taG	p.Y259*		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGGAGCATGTAGTTGTAAA	0.438													False	0	False	1:248756293	0	C	248756293	G	C	248756293	4	2	84	1	0	0	0	0	0	1	0	0	11085	1372	48	5	164	5	OR2T10	1	248756293	Nonsense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08	38957059	248756293	494328	10	7305											
APOB	338	broad.mit.edu	37	chr2	21233909	21233909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggagcctttgtaatcaTgagagaaagtaaatgccaga	11	5	1	3			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:21233909T>C	ENST00000233242.1	-	26	5958	c.5831A>G	c.(5830-5832)cAt>cGt	p.H1944R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1944					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGTAATCATGAGAGAAAGT	0.468													False	0	True	2:21233909	0	C	21233909	T	C	21233909	3	2	84	1	0	0	0	0	1	0	0	0	787	1464	51	4	7876	4	APOB	2	21233909	Missense_Mutation	SNP	T	TCGA-IB-7645-01A-22D-2201-08		21233909	221965464	11	7306											
REG3A	5068	broad.mit.edu	37	chr2	79384703	79384703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctgtttcttacctgtgCttctcgacaggctcgcacag	8	14	3	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:79384703C>T	ENST00000393878.1	-	4	709	c.455G>A	c.(454-456)aGc>aAc	p.S152N	REG3A_ENST00000409839.3_Missense_Mutation_p.S152N|REG3A_ENST00000305165.2_Missense_Mutation_p.S152N	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	152	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CTTACCTGTGCTTCTCGACAG	0.512													False	0	False	2:79384703	0	T	79384703	C	T	79384703	3	4	84	1	0	0	0	0	1	0	0	0	13291	797	28	2	80	2	REG3A	2	79384703	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	58150794	79384703	163814670	12	7307											
TMEM131	23505	broad.mit.edu	37	chr2	98430514	98430514	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaaatgttgttatcaatgtGcatggatgatgtggaaggca	12	3	1	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:98430514G>T	ENST00000186436.5	-	15	1765	c.1537C>A	c.(1537-1539)Cac>Aac	p.H513N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	513						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTATCAATGTGCATGGATGAT	0.348													False	0	False	2:98430514	0	T	98430514	G	T	98430514	3	4	84	1	0	0	0	0	1	0	0	0	16126	1319	46	3	4222	3	TMEM131	2	98430514	Missense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08	19045811	98430514	144768859	13	7308											
THSD7B	80731	broad.mit.edu	37	chr2	138030171	138030171	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagccaatggaggccaggaaTgcccagataccttatatgag	11	10	0	2			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:138030171T>A	ENST00000409968.1	+	11	2513	c.2335T>A	c.(2335-2337)Tgc>Agc	p.C779S	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.C748S|THSD7B_ENST00000272643.3_Missense_Mutation_p.C779S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGCCAGGAATGCCCAGATAC	0.393													False	0	False	2:138030171	0	A	138030171	T	A	138030171	3	1	84	1	0	0	0	0	1	0	0	0	15962	1464	51	5	2280	5	THSD7B	2	138030171	Missense_Mutation	SNP	T	TCGA-IB-7645-01A-22D-2201-08	39599657	138030171	105169202	14	7309											
CSRNP3	80034	broad.mit.edu	37	chr2	166535613	166535615	+	In_Frame_Del	DEL	GAC	GAC	-													gcttggcacctagtgagtcaGacgaggaggaggaggaagaa					rs61747278	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:166535613_166535615delGAC	ENST00000409420.1	+	5	1454_1456	c.1204_1206delGAC	c.(1204-1206)gacdel	p.D402del	CSRNP3_ENST00000342316.4_In_Frame_Del_p.D370del|CSRNP3_ENST00000314499.7_In_Frame_Del_p.D370del			Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	370					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TAGTGAGTCAGACgaggaggagg	0.537													False	1	False	2:166535613	0	-	166535615	GAC	-	166535613	7	5	84	1	0	1	0	1	0	0	0	0	3990	942	33	0	1122	0	CSRNP3	2	166535613	In_Frame_Del	DEL	GAC	TCGA-IB-7645-01A-22D-2201-08	28505442	166535613	76663760	15	7310											
LRP2	4036	broad.mit.edu	37	chr2	170177381	170177381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacttccacagcgaaaatgCgcactgtcacattctgcaat	6	14	2	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:170177381C>T	ENST00000263816.3	-	2	378	c.93G>A	c.(91-93)gcG>gcA	p.A31A	LRP2_ENST00000443831.1_Silent_p.A31A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	31	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.A31A(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCGAAAATGCGCACTGTCAC	0.388													False	0	False	2:170177381	0	T	170177381	C	T	170177381	2	4	84	1	0	0	0	0	0	0	0	1	9018	755	27	1		1	LRP2	2	170177381	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08	3641768	170177381	73021992	16	7311											
CREB1	1385	broad.mit.edu	37	chr2	208440094	208440107	+	Frame_Shift_Del	DEL	CAGCCGGGTACTAC	CAGCCGGGTACTAC	-													tgaccaatgcagcagccactCagccgggtactaccattcta							TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	CAGCCGGGTACTAC	CAGCCGGGTACTAC	-	-	CAGCCGGGTACTAC	CAGCCGGGTACTAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:208440094_208440107delCAGCCGGGTACTAC	ENST00000432329.2	+	7	897_910	c.646_659delCAGCCGGGTACTAC	c.(646-660)cagccgggtactaccfs	p.QPGTT216fs	CREB1_ENST00000374397.4_Intron|CREB1_ENST00000430624.1_Frame_Shift_Del_p.QPGTT202fs|CREB1_ENST00000353267.3_Frame_Shift_Del_p.QPGTT202fs|CREB1_ENST00000536726.1_Frame_Shift_Del_p.QPGTT202fs|CREB1_ENST00000539789.1_3'UTR	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	216					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	AGCAGCCACTCAGCCGGGTACTACCATTCTACAG	0.5			T	EWSR1	"clear cell sarcoma, angiomatoid fibrous histiocytoma"								False	1	True	2:208440094	0	-	208440107	CAGCCGGGTACTAC	-	208440094	7	5	84	1	0	1	0	1	0	0	0	0	3877	827	29	0	668	0	CREB1	2	208440094	Frame_Shift_Del	DEL	CAGCCGGGTACTAC	TCGA-IB-7645-01A-22D-2201-08	38262713	208440094	34759279	17	7312											
FN1	2335	broad.mit.edu	37	chr2	216271856	216271856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaaaaaagttacctgagcGtggggtgccagtggtttctt	12	7	1	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:216271856G>A	ENST00000354785.4	-	18	3076	c.2707C>T	c.(2707-2709)Cgc>Tgc	p.R903C	FN1_ENST00000323926.6_Missense_Mutation_p.R903C|FN1_ENST00000421182.1_Missense_Mutation_p.R903C|FN1_ENST00000336916.4_Missense_Mutation_p.R903C|FN1_ENST00000432072.2_Missense_Mutation_p.R903C|FN1_ENST00000346544.3_Missense_Mutation_p.R903C|FN1_ENST00000345488.5_Missense_Mutation_p.R903C|FN1_ENST00000357867.4_Missense_Mutation_p.R903C|FN1_ENST00000443816.1_Missense_Mutation_p.R903C|FN1_ENST00000359671.1_Missense_Mutation_p.R903C|FN1_ENST00000446046.1_Missense_Mutation_p.R903C|FN1_ENST00000356005.4_Missense_Mutation_p.R903C|FN1_ENST00000357009.2_Missense_Mutation_p.R903C			P02751	FINC_HUMAN	fibronectin 1	903					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTACCTGAGCGTGGGGTGCCA	0.408													False	0	False	2:216271856	0	A	216271856	G	A	216271856	3	1	84	1	0	0	0	0	1	0	0	0	6002	1145	40	1	4842	1	FN1	2	216271856	Missense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08	7831762	216271856	26927517	18	7313											
CCDC108	255101	broad.mit.edu	37	chr2	219890812	219890812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatagctgtggcctcgtgCccgcaccgtcaggcaccagg	13	14	1	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:219890812C>T	ENST00000341552.5	-	14	2364	c.2281G>A	c.(2281-2283)Gca>Aca	p.A761T	CCDC108_ENST00000441968.1_Missense_Mutation_p.A761T|CCDC108_ENST00000453220.1_Missense_Mutation_p.A761T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	761						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCCTCGTGCCCGCACCGTC	0.597													False	0	True	2:219890812	0	T	219890812	C	T	219890812	3	4	84	1	0	0	0	0	1	0	0	0	2763	739	26	2	3584	2	CCDC108	2	219890812	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	3618956	219890812	23308561	19	7314											
HACL1	26061	broad.mit.edu	37	chr3	15613278	15613279	+	Splice_Site	INS	-	-	G													atcaagttcctctaaaagctINStaaaaaaaaaaaaacacaca					rs56298314	by1000genomes	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:15613278_15613279insG	ENST00000451445.2	-	9	871		c.e9-2		HACL1_ENST00000321169.5_Splice_Site|HACL1_ENST00000435217.2_Splice_Site|HACL1_ENST00000456194.2_Splice_Site|HACL1_ENST00000457447.2_Intron			Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1						fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTCTAAAAGCTTAAAAAAAAAA	0.322													False	0	True	3:15613278	0	G	15613279	-	G	15613278	8	5	84	1	0	1	1	0	0	0	1	0	6988	1623	56	0	768	0	HACL1	3	15613278	Splice_Site	INS	-	TCGA-IB-7645-01A-22D-2201-08		15613278	182409152	20	7315											
SCN5A	6331	broad.mit.edu	37	chr3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtggctctagtgacactgtCataggagggtgggaaggaag	18	5	2	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:38591931C>G	ENST00000413689.1	-	28	6125	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1978H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGACACTGTCATAGGAGGGT	0.602													False	0	False	3:38591931	0	G	38591931	C	G	38591931	3	3	84	1	0	0	0	0	1	0	0	0	14003	826	29	5	122	5	SCN5A	3	38591931	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	22978653	38591931	159430499	21	7316											
PBRM1	55193	broad.mit.edu	37	chr3	52649473	52649473	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgtgcatcattataaacCtacattccaaaaatatactt	2	8	1	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:52649473C>T	ENST00000356770.4	-	14	1725		c.e14-1		PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATTATAAACCTACATTCCAA	0.338			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								False	0	False	3:52649473	0	T	52649473	C	T	52649473	5	4	84	1	0	0	0	0	0	0	1	0	11559	695	24	2	3146	2	PBRM1	3	52649473	Splice_Site	SNP	C	TCGA-IB-7645-01A-22D-2201-08	14057542	52649473	145372957	22	7317											
MUC20	200958	broad.mit.edu	37	chr3	195453211	195453211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctacagcccctcggaagcCgccctcaagaacttcacccc	6	20	2	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:195453211C>T	ENST00000320736.6	+	3	1350	c.1224C>T	c.(1222-1224)gcC>gcT	p.A408A	MUC20_ENST00000447234.2_Silent_p.A579A|MUC20_ENST00000445522.2_Silent_p.A544A|MUC20_ENST00000436408.1_Silent_p.A579A			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	579					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCTCGGAAGCCGCCCTCAAGA	0.602													False	0	False	3:195453211	0	T	195453211	C	T	195453211	2	4	84	1	0	0	0	0	0	0	0	1	10043	639	23	1		1	MUC20	3	195453211	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08	142803738	195453211	2569219	23	7318											
JAKMIP1	152789	broad.mit.edu	37	chr4	6114531	6114531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccatctgcaccgcgtccGtctccatctcgggcttctcg	10	17	4	0	rs148302835	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:6114531G>A	ENST00000409021.3	-	2	496	c.47C>T	c.(46-48)aCg>aTg	p.T16M	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.T16M|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.T16M|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.T16M|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.T16M|JAKMIP1_ENST00000457227.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	16	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCGCGTCCGTCTCCATCTC	0.607													False	0	True	4:6114531	0	A	6114531	G	A	6114531	3	1	84	1	0	0	0	0	1	0	0	0	7990	1145	40	1	2603	1	JAKMIP1	4	6114531	Missense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08		6114531	185039745	24	7319											
NDST3	9348	broad.mit.edu	37	chr4	119161830	119161830	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcgagagatggcttgTttatttccccccatttcagg	8	12	1	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:119161830T>C	ENST00000296499.5	+	11	2673	c.2270T>C	c.(2269-2271)gTt>gCt	p.V757A		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	757	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGATGGCTTGTTTATTTCCCC	0.458													False	0	True	4:119161830	0	C	119161830	T	C	119161830	3	2	84	1	0	0	0	0	1	0	0	0	10325	1725	60	4	2308	4	NDST3	4	119161830	Missense_Mutation	SNP	T	TCGA-IB-7645-01A-22D-2201-08	113047299	119161830	71992446	25	7320											
TRPC3	7222	broad.mit.edu	37	chr4	122853995	122853995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtagtccacgcagttgaCgttcagcgtcttggactcct	10	12	2	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:122853995C>T	ENST00000264811.5	-	1	617	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	TRPC3_ENST00000513531.1_Missense_Mutation_p.V67I|TRPC3_ENST00000379645.3_Missense_Mutation_p.V140I	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	55					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACGCAGTTGACGTTCAGCGTC	0.637													False	0	False	4:122853995	0	T	122853995	C	T	122853995	3	4	84	1	0	0	0	0	1	0	0	0	16662	536	19	1	2391	1	TRPC3	4	122853995	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	3692165	122853995	68300281	26	7321											
KIAA1109	84162	broad.mit.edu	37	chr4	123168391	123168391	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtatgttcatgccacaaaGatgcagcctcagtcatctgg	10	10	4	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:123168391G>A	ENST00000264501.4	+	35	5764	c.5391G>A	c.(5389-5391)aaG>aaA	p.K1797K	KIAA1109_ENST00000388738.3_Silent_p.K1797K|KIAA1109_ENST00000455637.1_Silent_p.K1797K			Q2LD37	K1109_HUMAN	KIAA1109	1797					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.K1797N(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGCCACAAAGATGCAGCCTC	0.393													False	0	True	4:123168391	0	A	123168391	G	A	123168391	2	1	84	1	0	0	0	0	0	0	0	1	8258	933	33	2		2	KIAA1109	4	123168391	Silent	SNP	G	TCGA-IB-7645-01A-22D-2201-08	314396	123168391	67985885	27	7322											
KIAA0947	23379	broad.mit.edu	37	chr5	5469027	5469027	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcggtgattaataaagcaAtgcagttagttgccaggcaa	10	6	0	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr5:5469027A>G	ENST00000296564.7	+	15	6370	c.6148A>G	c.(6148-6150)Atg>Gtg	p.M2050V		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2050										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TAATAAAGCAATGCAGTTAGT	0.363													False	0	False	5:5469027	0	G	5469027	A	G	5469027	3	3	84	1	0	0	0	0	1	0	0	0	8252	101	4	4	6206	4	KIAA0947	5	5469027	Missense_Mutation	SNP	A	TCGA-IB-7645-01A-22D-2201-08		5469027	175446233	28	7323											
C7	730	broad.mit.edu	37	chr5	40947725	40947725	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttaccaactgctggttgttGagaacactgttgaagtggct	12	7	0	2			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr5:40947725G>A	ENST00000313164.9	+	8	1119	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	254	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GCTGGTTGTTGAGAACACTGT	0.408													False	0	False	5:40947725	0	A	40947725	G	A	40947725	3	1	84	1	0	0	0	0	1	0	0	0	2394	1291	45	2	790	2	C7	5	40947725	Missense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08	35478698	40947725	139967535	29	7324											
FARS2	10667	broad.mit.edu	37	chr6	5771561	5771561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgctaccgcatcacgtacCgccacatggaacggactctg	9	15	2	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:5771561C>A	ENST00000324331.6	+	7	1591	c.1255C>A	c.(1255-1257)Cgc>Agc	p.R419S	FARS2_ENST00000274680.4_Missense_Mutation_p.R419S			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	419	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CATCACGTACCGCCACATGGA	0.592													False	0	False	6:5771561	0	A	5771561	C	A	5771561	3	1	84	1	0	0	0	0	1	0	0	0	5718	652	23	3	1277	3	FARS2	6	5771561	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08		5771561	165343506	30	7325											
MRPS24	64951	broad.mit.edu	37	chr7	43909090	43909090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgctgcacacggaggccGccatcttgggccaagcggag	14	15	1	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:43909090G>A	ENST00000317534.5	-	1	66	c.5C>T	c.(4-6)gCg>gTg	p.A2V	URGCP-MRPS24_ENST00000603700.1_Intron|MRPS24_ENST00000467084.1_Intron	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	2					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						CACGGAGGCCGCCATCTTGGG	0.697													False	0	False	7:43909090	0	A	43909090	G	A	43909090	3	1	84	1	0	0	0	0	1	0	0	0	9902	1087	38	1	514	1	MRPS24	7	43909090	Missense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08		43909090	115229573	31	7326											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	84	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-IB-7645-01A-22D-2201-08	244688	44153778	114984885	32	7327											
PKD1L1	168507	broad.mit.edu	37	chr7	47944116	47944116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagctgaggagggggacGtgagccgattggccacaatt	16	9	0	3			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:47944116G>A	ENST00000289672.2	-	12	1840	c.1790C>T	c.(1789-1791)aCg>aTg	p.T597M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	597	PKD 2.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAGGGGGACGTGAGCCGATT	0.542													False	0	False	7:47944116	0	A	47944116	G	A	47944116	3	1	84	1	0	0	0	0	1	0	0	0	12033	1145	40	1	6943	1	PKD1L1	7	47944116	Missense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08	3790338	47944116	111194547	33	7328											
SVOPL	136306	broad.mit.edu	37	chr7	138341226	138341226	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacatatagcctcggtatttCgtgggcaaaaattcagtctt	8	8	2	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:138341226C>T	ENST00000419765.3	-	6	534	c.501G>A	c.(499-501)acG>acA	p.T167T	SVOPL_ENST00000421622.1_Intron|SVOPL_ENST00000436657.1_Silent_p.T15T|SVOPL_ENST00000288513.5_Silent_p.T15T	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	167						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCGGTATTTCGTGGGCAAAA	0.353													False	0	True	7:138341226	0	T	138341226	C	T	138341226	2	4	84	1	0	0	0	0	0	0	0	1	15506	871	31	1		1	SVOPL	7	138341226	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08	90397110	138341226	20797437	34	7329											
TRPV6	55503	broad.mit.edu	37	chr7	142569526	142569526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	attatcccacgcaggtctctCctcagggtcccttgccgaag	9	15	2	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:142569526C>A	ENST00000359396.3	-	15	2357	c.2112G>T	c.(2110-2112)agG>agT	p.R704S		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	704	Interaction with calmodulin.				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCAGGTCTCTCCTCAGGGTCC	0.577													False	0	True	7:142569526	0	A	142569526	C	A	142569526	3	1	84	1	0	0	0	0	1	0	0	0	16683	854	30	3	69	3	TRPV6	7	142569526	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	4228300	142569526	16569137	35	7330											
CA8	767	broad.mit.edu	37	chr8	61139438	61139438	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaataatgacttaccttataCtgaatatcttggaggatttc	6	6	1	2			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:61139438C>G	ENST00000317995.4	-	5	834	c.570G>C	c.(568-570)caG>caC	p.Q190H	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	190					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TTACCTTATACTGAATATCTT	0.393													False	0	False	8:61139438	0	G	61139438	C	G	61139438	3	3	84	1	0	0	0	0	1	0	0	0	2543	564	20	5	318	5	CA8	8	61139438	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08		61139438	85224584	36	7331											
PSKH2	85481	broad.mit.edu	37	chr8	87060706	87060706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcttacaaaagcgcagaCagtggcgattctactatcct	8	11	2	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:87060706C>T	ENST00000276616.2	-	3	1217	c.1143G>A	c.(1141-1143)ctG>ctA	p.L381L		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	381							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AAAGCGCAGACAGTGGCGATT	0.433													False	0	False	8:87060706	0	T	87060706	C	T	87060706	2	4	84	1	0	0	0	0	0	0	0	1	12741	465	17	2		2	PSKH2	8	87060706	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08	25921268	87060706	59303316	37	7332											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457259	110457259	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcccctgctgcccaacagCttgtggatgtagatcttcta	8	13	2	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:110457259C>A	ENST00000378402.5	+	38	5265	c.5161C>A	c.(5161-5163)Ctt>Att	p.L1721I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1721	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCCCAACAGCTTGTGGATGT	0.438										HNSCC(38;0.096)			False	0	False	8:110457259	0	A	110457259	C	A	110457259	3	1	84	1	0	0	0	0	1	0	0	0	12041	797	28	3	5311	3	PKHD1L1	8	110457259	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	23396553	110457259	35906763	38	7333											
GSDMC	56169	broad.mit.edu	37	chr8	130789715	130789715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacgagaatccttcttctttCgtaatataacaaactgacgt	5	9	2	2			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:130789715C>T	ENST00000276708.4	-	2	1000	c.119G>A	c.(118-120)cGa>cAa	p.R40Q		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	40						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTTCTTCTTTCGTAATATAAC	0.398													False	0	True	8:130789715	0	T	130789715	C	T	130789715	3	4	84	1	0	0	0	0	1	0	0	0	6865	884	31	1	1459	1	GSDMC	8	130789715	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	20332456	130789715	15574307	39	7334											
GRINA	2907	broad.mit.edu	37	chr8	145066170	145066172	+	In_Frame_Del	DEL	TCT	TCT	-													ctactatgtctcctatgctgTcttcttcatctctctcatcg							TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:145066170_145066172delTCT	ENST00000313269.5	+	4	895_897	c.617_619delTCT	c.(616-621)gtcttc>gtc	p.F208del	GRINA_ENST00000395068.4_In_Frame_Del_p.F208del	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	208						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTATGCTGTCTTCTTCATCTC	0.547													False	2	False	8:145066170	0	-	145066172	TCT	-	145066170	7	5	84	1	0	1	0	1	0	0	0	0	6832	1667	58	0	627	0	GRINA	8	145066170	In_Frame_Del	DEL	TCT	TCGA-IB-7645-01A-22D-2201-08	14276455	145066170	1297852	40	7335											
NTRK2	4915	broad.mit.edu	37	chr9	87635240	87635240	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgttgtgggagattttcacCtatggcaaacagccctggta	12	8	1	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr9:87635240C>A	ENST00000376214.1	+	20	3230	c.2292C>A	c.(2290-2292)acC>acA	p.T764T	NTRK2_ENST00000323115.4_Silent_p.T748T|NTRK2_ENST00000277120.3_Silent_p.T764T|NTRK2_ENST00000376213.1_Silent_p.T748T	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	748	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AGATTTTCACCTATGGCAAAC	0.557										TSP Lung(25;0.17)			False	0	False	9:87635240	0	A	87635240	C	A	87635240	2	1	84	1	0	0	0	0	0	0	0	1	10775	668	24	3		3	NTRK2	9	87635240	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08		87635240	53578191	41	7336											
IGSF22	283284	broad.mit.edu	37	chr11	18736168	18736168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcttcactgtggccagaCgctctggggagaaaggtggg	16	10	3	2			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:18736168C>T	ENST00000513874.1	-	12	1674	c.1535G>A	c.(1534-1536)cGt>cAt	p.R512H	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	512								p.R512H(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGTGGCCAGACGCTCTGGGGA	0.612													False	0	False	11:18736168	0	T	18736168	C	T	18736168	3	4	84	1	0	0	0	0	1	0	0	0	7650	536	19	1	2493	1	IGSF22	11	18736168	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08		18736168	116270348	42	7337											
DDB1	1642	broad.mit.edu	37	chr11	61091514	61091514	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatccatctgttcctccttCtccaaaagcagcatgaagag	6	14	2	2			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:61091514C>T	ENST00000301764.7	-	7	1255	c.858G>A	c.(856-858)gaG>gaA	p.E286E	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	286	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GTTCCTCCTTCTCCAAAAGCA	0.517								Nucleotide excision repair (NER)					False	0	False	11:61091514	0	T	61091514	C	T	61091514	2	4	84	1	0	0	0	0	0	0	0	1	4348	912	32	2		2	DDB1	11	61091514	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08	42355346	61091514	73915002	43	7338											
DDB1	1642	broad.mit.edu	37	chr11	61091563	61091563	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccatgtctcccagcaggtatCttgagccattagggtccact	9	13	2	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:61091563C>G	ENST00000301764.7	-	7	1206	c.809G>C	c.(808-810)aGa>aCa	p.R270T	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	270	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGCAGGTATCTTGAGCCATT	0.493								Nucleotide excision repair (NER)					False	0	False	11:61091563	0	G	61091563	C	G	61091563	3	3	84	1	0	0	0	0	1	0	0	0	4348	913	32	5	2697	5	DDB1	11	61091563	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	49	61091563	73914953	44	7339											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238742	71238743	+	Frame_Shift_Del	DEL	TT	TT	-													tgctgtaagccctgctgctgTtcctcaggctgtgggtcatc							TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:71238742_71238743delTT	ENST00000398536.4	+	1	430_431	c.396_397delTT	c.(394-399)tgttccfs	p.S134fs		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	134	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						cctgctgctgttcctcaggctg	0.614													False	2	False	11:71238742	0	-	71238743	TT	-	71238742	7	5	84	1	0	1	0	1	0	0	0	0	8617	1731	60	0	398	0	KRTAP5-7	11	71238742	Frame_Shift_Del	DEL	TT	TCGA-IB-7645-01A-22D-2201-08	10147179	71238742	63767774	45	7340											
NTM	50863	broad.mit.edu	37	chr11	132180047	132180047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagggtacaggtgtccccGtgggacaaaaggggacactg	15	10	0	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:132180047G>A	ENST00000374786.1	+	5	1182	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	NTM_ENST00000374791.3_Missense_Mutation_p.V235M|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Missense_Mutation_p.V235M|NTM_ENST00000425719.2_Missense_Mutation_p.V235M|NTM_ENST00000427481.2_Missense_Mutation_p.V226M|NTM_ENST00000374784.1_Missense_Mutation_p.V235M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	235	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGGTGTCCCCGTGGGACAAAA	0.468													False	0	True	11:132180047	0	A	132180047	G	A	132180047	3	1	84	1	0	0	0	0	1	0	0	0	10767	1145	40	1	807	1	NTM	11	132180047	Missense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08	60941305	132180047	2826469	46	7341											
KCNA6	3742	broad.mit.edu	37	chr12	4919409	4919409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttccggacacgctgctcGgagaccctggccggcgagtc	14	14	0	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:4919409G>A	ENST00000433855.1	+	1	1068	c.202G>A	c.(202-204)Gga>Aga	p.G68R	KCNA6_ENST00000280684.3_Missense_Mutation_p.G68R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	68						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CACGCTGCTCGGAGACCCTGG	0.617										HNSCC(72;0.22)			False	0	False	12:4919409	0	A	4919409	G	A	4919409	3	1	84	1	0	0	0	0	1	0	0	0	8057	1117	39	1	204	1	KCNA6	12	4919409	Missense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08		4919409	128932486	47	7342											
PDE3A	5139	broad.mit.edu	37	chr12	20799489	20799489	+	Frame_Shift_Del	DEL	C	C	-													atcttactacacagcctattCcaggcctctcaactgtgatt							TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:20799489delC	ENST00000359062.3	+	11	2357	c.2317delC	c.(2317-2319)ccafs	p.P773fs	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	773	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ACAGCCTATTCCAGGCCTCTC	0.413													False	2	False	12:20799489	0	-	20799489	C	-	20799489	7	5	84	1	0	1	0	1	0	0	0	0	11705	855	30	0	2359	0	PDE3A	12	20799489	Frame_Shift_Del	DEL	C	TCGA-IB-7645-01A-22D-2201-08	15880080	20799489	113052406	48	7343											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	84	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	4598795	25398284	108453611	49	7344											
KRT75	9119	broad.mit.edu	37	chr12	52827640	52827640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagggtcttgatctgctcgCgctcctcggcccgcacccgc	12	17	2	2			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:52827640C>T	ENST00000252245.5	-	1	669	c.449G>A	c.(448-450)cGc>cAc	p.R150H		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	150	Coil 1A.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GATCTGCTCGCGCTCCTCGGC	0.562													False	0	False	12:52827640	0	T	52827640	C	T	52827640	3	4	84	1	0	0	0	0	1	0	0	0	8538	768	27	1	1242	1	KRT75	12	52827640	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	27429356	52827640	81024255	50	7345											
KRT77	374454	broad.mit.edu	37	chr12	53097128	53097128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagaacccactgccggacTcccaccaccagagcctgcag	8	19	0	2			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:53097128T>C	ENST00000341809.3	-	1	119	c.91A>G	c.(91-93)Agt>Ggt	p.S31G	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	31	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACTGCCGGACTCCCACCACCA	0.532													False	0	True	12:53097128	0	C	53097128	T	C	53097128	3	2	84	1	0	0	0	0	1	0	0	0	8540	1551	54	4	1681	4	KRT77	12	53097128	Missense_Mutation	SNP	T	TCGA-IB-7645-01A-22D-2201-08	269488	53097128	80754767	51	7346											
DYRK2	8445	broad.mit.edu	37	chr12	68051338	68051338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaggtgccccacgatcaCgtggcttacaggtatgaggt	14	10	1	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:68051338C>T	ENST00000344096.3	+	3	1064	c.651C>T	c.(649-651)caC>caT	p.H217H	DYRK2_ENST00000393555.3_Silent_p.H144H	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	217					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CCCACGATCACGTGGCTTACA	0.552													False	0	False	12:68051338	0	T	68051338	C	T	68051338	2	4	84	1	0	0	0	0	0	0	0	1	4886	535	19	1		1	DYRK2	12	68051338	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08	14954210	68051338	65800557	52	7347											
LRRC43	254050	broad.mit.edu	37	chr12	122687867	122687867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaaattttctcagaaaagCcgaaagccgtgattccgatc	7	10	1	2			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:122687867C>T	ENST00000339777.4	+	12	1877	c.1849C>T	c.(1849-1851)Ccg>Tcg	p.P617S	LRRC43_ENST00000425921.1_Missense_Mutation_p.P432S	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	617										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCAGAAAAGCCGAAAGCCGT	0.607													False	0	True	12:122687867	0	T	122687867	C	T	122687867	3	4	84	1	0	0	0	0	1	0	0	0	9063	739	26	2	1895	2	LRRC43	12	122687867	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	54636529	122687867	11164028	53	7348											
EP400	57634	broad.mit.edu	37	chr12	132446055	132446055	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctgggcttcgagaggacAcccggcgtgctgctccccgg	14	17	0	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:132446055A>G	ENST00000333577.4	+	2	1000	c.891A>G	c.(889-891)acA>acG	p.T297T	EP400_ENST00000330386.6_Silent_p.T297T|EP400_ENST00000389562.2_Silent_p.T297T|EP400_ENST00000332482.4_Silent_p.T297T|EP400_ENST00000389561.2_Silent_p.T297T			Q96L91	EP400_HUMAN	E1A binding protein p400	297					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.T297T(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGAGAGGACACCCGGCGTGC	0.736													False	0	True	12:132446055	0	G	132446055	A	G	132446055	2	3	84	1	0	0	0	0	0	0	0	1	5181	146	6	4		4	EP400	12	132446055	Silent	SNP	A	TCGA-IB-7645-01A-22D-2201-08	9758188	132446055	1405840	54	7349											
UGGT2	55757	broad.mit.edu	37	chr13	96592266	96592266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcccaaatattagcaTgaggaaatgtattttggaga	8	4	0	2			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:96592266T>C	ENST00000376747.3	-	16	1827	c.1757A>G	c.(1756-1758)cAt>cGt	p.H586R		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	586					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AATATTAGCATGAGGAAATGT	0.333													False	0	False	13:96592266	0	C	96592266	T	C	96592266	3	2	84	1	0	0	0	0	1	0	0	0	17026	1464	51	4	2889	4	UGGT2	13	96592266	Missense_Mutation	SNP	T	TCGA-IB-7645-01A-22D-2201-08		96592266	18577612	55	7350											
MYO16	23026	broad.mit.edu	37	chr13	109704657	109704657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatttcctagctagtgaaaAtgtcgtgatcaatcatttgt	7	6	2	2			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:109704657A>G	ENST00000356711.2	+	25	2942	c.2816A>G	c.(2815-2817)aAt>aGt	p.N939S	MYO16_ENST00000357550.2_Missense_Mutation_p.N939S|MYO16_ENST00000457511.2_Missense_Mutation_p.N451S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	939	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCTAGTGAAAATGTCGTGATC	0.373													False	0	True	13:109704657	0	G	109704657	A	G	109704657	3	3	84	1	0	0	0	0	1	0	0	0	10131	101	4	4	2910	4	MYO16	13	109704657	Missense_Mutation	SNP	A	TCGA-IB-7645-01A-22D-2201-08	13112391	109704657	5465221	56	7351											
OR4Q3	441669	broad.mit.edu	37	chr14	20216249	20216249	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttactattctcttatgctatCatcctgatcaccctgagaac	4	12	3	2			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:20216249C>T	ENST00000331723.1	+	1	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTATGCTATCATCCTGATCA	0.507													False	0	False	14:20216249	0	T	20216249	C	T	20216249	2	4	84	1	0	0	0	0	0	0	0	1	11149	816	29	2		2	OR4Q3	14	20216249	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08		20216249	87133291	57	7352											
MDGA2	161357	broad.mit.edu	37	chr14	47343251	47343251	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtcatacccccataccttCtttggagccactacggtcag	8	14	3	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:47343251C>A	ENST00000426342.1	-	13	2442	c.1696G>T	c.(1696-1698)Gaa>Taa	p.E566*	MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000357362.3_Nonsense_Mutation_p.E566*|MDGA2_ENST00000439988.3_Nonsense_Mutation_p.E864*|MDGA2_ENST00000399232.2_Nonsense_Mutation_p.E795*	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	795	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCATACCTTCTTTGGAGCCA	0.333													False	0	True	14:47343251	0	A	47343251	C	A	47343251	4	1	84	1	0	0	0	0	0	1	0	0	9474	922	32	3	507	3	MDGA2	14	47343251	Nonsense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	27127002	47343251	60006289	58	7353											
NIPA2	81614	broad.mit.edu	37	chr15	23021237	23021238	+	Frame_Shift_Ins	INS	-	-	T													ctggcaagtcgaaggaggccINScttttttttcaaaatgaaac					rs145147241	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr15:23021237_23021238insT	ENST00000337451.3	-	4	711_712	c.99_100insA	c.(97-102)aagggcfs	p.G34fs	NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.G34fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	34						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CGAAGGAGGCCCTTTTTTTTCA	0.446													False	0	True	15:23021237	0	T	23021238	-	T	23021237	7	5	84	1	0	1	1	0	0	0	0	0	10491	623	22	0	1002	0	NIPA2	15	23021237	Frame_Shift_Ins	INS	-	TCGA-IB-7645-01A-22D-2201-08		23021237	79510155	59	7354											
C16orf89	146556	broad.mit.edu	37	chr16	5112524	5112524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccacgcgcaggctcagcGgctgcagcaggggctcctgg	15	16	1	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:5112524G>A	ENST00000315997.5	-	2	461	c.260C>T	c.(259-261)cCg>cTg	p.P87L	C16orf89_ENST00000472572.3_Missense_Mutation_p.P87L|C16orf89_ENST00000474471.3_Missense_Mutation_p.P87L|C16orf89_ENST00000350219.4_Missense_Mutation_p.P125L|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.P125L	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	87						extracellular region		p.P125L(2)|p.P87L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CAGGCTCAGCGGCTGCAGCAG	0.562													False	0	False	16:5112524	0	A	5112524	G	A	5112524	3	1	84	1	0	0	0	0	1	0	0	0	1852	1116	39	1	1111	1	C16orf89	16	5112524	Missense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08		5112524	85242229	60	7355											
ADAD2	161931	broad.mit.edu	37	chr16	84228111	84228111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgccctgcgggcactgCgaatagcaagacggaggcca	15	12	1	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:84228111C>T	ENST00000268624.3	+	3	791	c.698C>T	c.(697-699)gCg>gTg	p.A233V	ADAD2_ENST00000315906.5_Missense_Mutation_p.A161V|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	161					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCGGGCACTGCGAATAGCAAG	0.652													False	0	False	16:84228111	0	T	84228111	C	T	84228111	3	4	84	1	0	0	0	0	1	0	0	0	232	768	27	1	708	1	ADAD2	16	84228111	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	79115587	84228111	6126642	61	7356											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	12	9	0	2			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552		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)			False	0	False	17:7578263	0	A	7578263	G	A	7578263	4	1	84	1	0	0	0	0	0	1	0	0	16464	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08		7578263	73616947	62	7357											
KRT40	125115	broad.mit.edu	37	chr17	39137358	39137358	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggtgggggcagtgtccagctCcacactgaggcggtcgccaa	16	12	0	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:39137358C>A	ENST00000377755.4	-	4	767	c.733G>T	c.(733-735)Gag>Tag	p.E245*	KRT40_ENST00000398486.2_Nonsense_Mutation_p.E245*			Q6A162	K1C40_HUMAN	keratin 40	245	Linker 12.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTGTCCAGCTCCACACTGAGG	0.522													False	0	False	17:39137358	0	A	39137358	C	A	39137358	4	1	84	1	0	0	0	0	0	1	0	0	8528	864	30	3	578	3	KRT40	17	39137358	Nonsense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	31559095	39137358	42057852	63	7358											
GHDC	84514	broad.mit.edu	37	chr17	40341794	40341794	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggggcatcgcaggggggAagggggaggaggggcaggca	24	8	0	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:40341794A>G	ENST00000301671.8	-	9	1961	c.1520T>C	c.(1519-1521)tTc>tCc	p.F507S	GHDC_ENST00000414034.3_3'UTR|GHDC_ENST00000587427.1_Missense_Mutation_p.F507S|GHDC_ENST00000428494.2_Missense_Mutation_p.F468S|GHDC_ENST00000593209.1_Intron			Q8N2G8	GHDC_HUMAN	GH3 domain containing	507						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CGCAGGGGGGAAGGGGGAGGA	0.716													False	0	True	17:40341794	0	G	40341794	A	G	40341794	3	3	84	1	0	0	0	0	1	0	0	0	6414	246	9	4	76	4	GHDC	17	40341794	Missense_Mutation	SNP	A	TCGA-IB-7645-01A-22D-2201-08	1204436	40341794	40853416	64	7359											
ITGB4	3691	broad.mit.edu	37	chr17	73728266	73728266	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaagaggtgcggtcagctcGctgcagcttcaacggagact	13	10	2	2			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:73728266G>T	ENST00000200181.3	+	12	1587	c.1400G>T	c.(1399-1401)cGc>cTc	p.R467L	ITGB4_ENST00000339591.3_Missense_Mutation_p.R467L|ITGB4_ENST00000450894.3_Missense_Mutation_p.R467L|ITGB4_ENST00000579662.1_Missense_Mutation_p.R467L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.R467L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	467	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGTCAGCTCGCTGCAGCTTC	0.637													False	0	False	17:73728266	0	T	73728266	G	T	73728266	3	4	84	1	0	0	0	0	1	0	0	0	7947	1087	38	3	1442	3	ITGB4	17	73728266	Missense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08	33386472	73728266	7466944	65	7360											
ADCYAP1	116	broad.mit.edu	37	chr18	909532	909532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcacggacagctacagcCgctaccggaaacaaatggct	9	13	2	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr18:909532C>T	ENST00000579794.1	+	4	705	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	ADCYAP1_ENST00000450565.3_Missense_Mutation_p.R143C	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	143					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CAGCTACAGCCGCTACCGGAA	0.577													False	0	False	18:909532	0	T	909532	C	T	909532	3	4	84	1	0	0	0	0	1	0	0	0	302	652	23	1	441	1	ADCYAP1	18	909532	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08		909532	77167716	66	7361											
DNMT1	1786	broad.mit.edu	37	chr19	10283847	10283847	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaggaagcggtctagcAactctgtcaagcaaaataac	9	10	4	0	rs61758429		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:10283847A>C	ENST00000340748.4	-	8	874	c.639T>G	c.(637-639)gtT>gtG	p.V213V	DNMT1_ENST00000540357.1_Silent_p.V213V|DNMT1_ENST00000359526.4_Silent_p.V229V			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	213	Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GCGGTCTAGCAACTCTGTCAA	0.448													False	0	False	19:10283847	0	C	10283847	A	C	10283847	2	2	84	1	0	0	0	0	0	0	0	1	4705	117	5	4		4	DNMT1	19	10283847	Silent	SNP	A	TCGA-IB-7645-01A-22D-2201-08		10283847	48845136	67	7362											
MYO9B	4650	broad.mit.edu	37	chr19	17322900	17322900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgcctcgctgggcaccGggtgcccgggaggcggctgc	17	16	0	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:17322900G>A	ENST00000594824.1	+	40	6402	c.6255G>A	c.(6253-6255)ccG>ccA	p.P2085P	MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	2085	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCTGGGCACCGGGTGCCCGGG	0.716													False	0	True	19:17322900	0	A	17322900	G	A	17322900	2	1	84	1	0	0	0	0	0	0	0	1	10152	1103	39	1		1	MYO9B	19	17322900	Silent	SNP	G	TCGA-IB-7645-01A-22D-2201-08	7039053	17322900	41806083	68	7363											
GATAD2A	54815	broad.mit.edu	37	chr19	19609403	19609403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaaacagctggagaagaCgctactcgagatccccccac	10	15	0	3			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:19609403C>A	ENST00000404158.1	+	10	1494	c.1076C>A	c.(1075-1077)aCg>aAg	p.T359K	GATAD2A_ENST00000358713.3_Missense_Mutation_p.T359K|GATAD2A_ENST00000429563.2_Missense_Mutation_p.T186K|GATAD2A_ENST00000252577.5_Missense_Mutation_p.T359K|GATAD2A_ENST00000360315.3_Missense_Mutation_p.T359K|GATAD2A_ENST00000537887.1_5'UTR			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	359					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CTGGAGAAGACGCTACTCGAG	0.647													False	0	False	19:19609403	0	A	19609403	C	A	19609403	3	1	84	1	0	0	0	0	1	0	0	0	6303	536	19	3	1102	3	GATAD2A	19	19609403	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	2286503	19609403	39519580	69	7364											
ZNF93	81931	broad.mit.edu	37	chr19	20044700	20044700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatactggagagaagccCtacgtttgtgaagaatgtgg	12	6	1	3			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:20044700C>T	ENST00000343769.5	+	4	964	c.936C>T	c.(934-936)ccC>ccT	p.P312P	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	312						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GAGAGAAGCCCTACGTTTGTG	0.368													False	0	True	19:20044700	0	T	20044700	C	T	20044700	2	4	84	1	0	0	0	0	0	0	0	1	18284	668	24	2		2	ZNF93	19	20044700	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08	435297	20044700	39084283	70	7365											
GRIK5	2901	broad.mit.edu	37	chr19	42563599	42563599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagtggtgtggggtcccGgctgtcgtccaacatcctca	14	12	1	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:42563599G>A	ENST00000262895.3	-	5	588	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	GRIK5_ENST00000301218.4_Missense_Mutation_p.R197W|GRIK5_ENST00000593562.1_Missense_Mutation_p.R197W	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	197						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTGGGGTCCCGGCTGTCGTCC	0.602													False	0	True	19:42563599	0	A	42563599	G	A	42563599	3	1	84	1	0	0	0	0	1	0	0	0	6824	1115	39	1	2413	1	GRIK5	19	42563599	Missense_Mutation	SNP	G	TCGA-IB-7645-01A-22D-2201-08	22518899	42563599	16565384	71	7366											
NLRP5	126206	broad.mit.edu	37	chr19	56538511	56538511	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggatcgtgctgtgctgggcGcaaggtggactctaccaggg	17	9	1	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:56538511G>T	ENST00000390649.3	+	7	912	c.912G>T	c.(910-912)gcG>gcT	p.A304A		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	304	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTGCTGGGCGCAAGGTGGAC	0.562													False	0	False	19:56538511	0	T	56538511	G	T	56538511	2	4	84	1	0	0	0	0	0	0	0	1	10548	1074	38	3		3	NLRP5	19	56538511	Silent	SNP	G	TCGA-IB-7645-01A-22D-2201-08	13974912	56538511	2590472	72	7367											
ACOT8	10005	broad.mit.edu	37	chr20	44470483	44470483	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggtacctctggctacagCttgctctctgagacctgggg	13	12	2	1			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr20:44470483C>A	ENST00000217455.4	-	6	1044	c.954G>T	c.(952-954)aaG>aaT	p.K318N	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	318					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CTGGCTACAGCTTGCTCTCTG	0.597													False	0	False	20:44470483	0	A	44470483	C	A	44470483	3	1	84	1	0	0	0	0	1	0	0	0	156	796	28	3	9	3	ACOT8	20	44470483	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08		44470483	18555037	73	7368											
UBASH3A	53347	broad.mit.edu	37	chr21	43838614	43838614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcagcaggacgaagccagCgagggctgggtgattgggat	18	8	0	1	rs147873921		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr21:43838614C>T	ENST00000319294.6	+	7	973	c.942C>T	c.(940-942)agC>agT	p.S314S	UBASH3A_ENST00000398367.1_Silent_p.S276S|UBASH3A_ENST00000291535.6_Silent_p.S276S	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	314	SH3.					cytosol|nucleus		p.S314R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGAAGCCAGCGAGGGCTGGG	0.592													False	0	False	21:43838614	0	T	43838614	C	T	43838614	2	4	84	1	0	0	0	0	0	0	0	1	16923	767	27	1		1	UBASH3A	21	43838614	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08		43838614	4291281	74	7369											
FAM9A	171482	broad.mit.edu	37	chrX	8763195	8763195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccttctcctcctcctcctCcttcttctccttcttctcct	0	22	5	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:8763195C>T	ENST00000543214.1	-	7	890	c.755G>A	c.(754-756)gGa>gAa	p.G252E	FAM9A_ENST00000381003.3_Missense_Mutation_p.G252E	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	252	Glu-rich.|Poly-Gly.					nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				tcctcctcctccttcttctcc	0.463													False	0	True	X:8763195	0	T	8763195	C	T	8763195	3	4	84	1	0	0	0	0	1	0	0	0	5699	855	30	2	255	2	FAM9A	23	8763195	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08		8763195	146507365	75	7370											
RS1	6247	broad.mit.edu	37	chrX	18674869	18674869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttttggtaccaggggtcctCgccttcatcctgcagccaac	9	14	1	0	rs146477940	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:18674869C>T	ENST00000379984.3	-	3	128	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	30					cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CAGGGGTCCTCGCCTTCATCC	0.557													False	0	False	X:18674869	0	T	18674869	C	T	18674869	3	4	84	1	0	0	0	0	1	0	0	0	13772	893	31	1	602	1	RS1	23	18674869	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	9911674	18674869	136595691	76	7371											
P2RY4	5030	broad.mit.edu	37	chrX	69478844	69478844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagtgaccaggcagggcaCgccaaagagcagccccatga	13	12	0	4			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:69478844C>T	ENST00000374519.2	-	1	810	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	211					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						AGGCAGGGCACGCCAAAGAGC	0.587													False	0	False	X:69478844	0	T	69478844	C	T	69478844	3	4	84	1	0	0	0	0	1	0	0	0	11421	536	19	1	470	1	P2RY4	23	69478844	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	50803975	69478844	85791716	77	7372											
FAM122C	159091	broad.mit.edu	37	chrX	133948871	133948871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaacatttaggaatcgaCgctctctggtaaggaaatgc	10	8	1	0			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:133948871C>T	ENST00000414371.2	+	4	462	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	FAM122C_ENST00000370785.3_Missense_Mutation_p.R61C|FAM122C_ENST00000370784.4_Missense_Mutation_p.R61C|FAM122C_ENST00000445123.1_5'UTR	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	61								p.R61C(2)		endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TAGGAATCGACGCTCTCTGGT	0.388													False	0	False	X:133948871	0	T	133948871	C	T	133948871	3	4	84	1	0	0	0	0	1	0	0	0	5457	536	19	1	490	1	FAM122C	23	133948871	Missense_Mutation	SNP	C	TCGA-IB-7645-01A-22D-2201-08	64470027	133948871	21321689	78	7373											
ATP2B3	492	broad.mit.edu	37	chrX	152807149	152807149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggaatgtgtcgggaggCgcagaagatgagggcgaggc	21	5	0	3			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:152807149C>T	ENST00000370186.1	+	4	755	c.429C>T	c.(427-429)ggC>ggT	p.G143G	ATP2B3_ENST00000359149.3_Silent_p.G143G|ATP2B3_ENST00000263519.4_Silent_p.G143G|ATP2B3_ENST00000370181.2_Silent_p.G143G|ATP2B3_ENST00000349466.2_Silent_p.G143G|ATP2B3_ENST00000393842.1_Silent_p.G143G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	143					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCGGGAGGCGCAGAAGATG	0.607													False	0	False	X:152807149	0	T	152807149	C	T	152807149	2	4	84	1	0	0	0	0	0	0	0	1	1145	755	27	1		1	ATP2B3	23	152807149	Silent	SNP	C	TCGA-IB-7645-01A-22D-2201-08	18858278	152807149	2463411	79	7374											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	85	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-IB-7646-01A-11D-2154-08		22987385	226263236	1	7375											
KCNC4	3749	broad.mit.edu	37	chr1	110754459	110754459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaactactaccgcaccgGcaagctgcactgccccgcgg	10	18	1	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:110754459G>A	ENST00000369787.3	+	1	365	c.338G>A	c.(337-339)gGc>gAc	p.G113D	KCNC4_ENST00000438661.2_Missense_Mutation_p.G113D|KCNC4_ENST00000413138.3_Missense_Mutation_p.G113D	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	113					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TACCGCACCGGCAAGCTGCAC	0.672													False	0	False	1:110754459	0	A	110754459	G	A	110754459	3	1	85	1	0	0	0	0	1	0	0	0	8067	1203	42	2	340	2	KCNC4	1	110754459	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	87767074	110754459	138496162	2	7376											
NBPF10	100132406	broad.mit.edu	37	chr1	145323670	145323670	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaattaaaaaggacgaAgaagaggaagaagaccaaga	13	4	0	5			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:145323670A>C	ENST00000342960.5	+	27	3542	c.3507A>C	c.(3505-3507)gaA>gaC	p.E1169D	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1169										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAAAGGACGAAGAAGAGGAAG	0.463													False	0	False	1:145323670	0	C	145323670	A	C	145323670	3	2	85	1	0	0	0	0	1	0	0	0	10260	69	3	4	3613	4	NBPF10	1	145323670	Missense_Mutation	SNP	A	TCGA-IB-7646-01A-11D-2154-08	34569211	145323670	103926951	3	7377											
USH2A	7399	broad.mit.edu	37	chr1	216496975	216496975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagttattgtatccaggaCgataatttggtccaggtgtc	11	6	0	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:216496975C>T	ENST00000366943.2	-	8	1777	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H	USH2A_ENST00000366942.3_Missense_Mutation_p.R464H|USH2A_ENST00000307340.3_Missense_Mutation_p.R464H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	464	Laminin N-terminal.		R -> C (in USH2A; uncertain pathogenicity).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTATCCAGGACGATAATTTGG	0.373										HNSCC(13;0.011)			False	0	False	1:216496975	0	T	216496975	C	T	216496975	3	4	85	1	0	0	0	0	1	0	0	0	17120	536	19	1	14491	1	USH2A	1	216496975	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	71173305	216496975	32753646	4	7378											
OR1C1	26188	broad.mit.edu	37	chr1	247920822	247920822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagtcccctcttcataTccctgttccttagggtatag	7	12	3	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr1:247920822T>C	ENST00000408896.2	-	1	1160	c.887A>G	c.(886-888)gAt>gGt	p.D296G		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CCTCTTCATATCCCTGTTCCT	0.428													False	0	True	1:247920822	0	C	247920822	T	C	247920822	3	2	85	1	0	0	0	0	1	0	0	0	11020	1435	50	4	59	4	OR1C1	1	247920822	Missense_Mutation	SNP	T	TCGA-IB-7646-01A-11D-2154-08	31423847	247920822	1329799	5	7379											
FN1	2335	broad.mit.edu	37	chr2	216288871	216288871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccttgggacactcaccaGtgtggtctgtgcagaaagag	12	12	2	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr2:216288871G>A	ENST00000354785.4	-	8	1583	c.1214C>T	c.(1213-1215)aCt>aTt	p.T405I	FN1_ENST00000356005.4_Missense_Mutation_p.T405I|FN1_ENST00000323926.6_Missense_Mutation_p.T405I|FN1_ENST00000336916.4_Missense_Mutation_p.T405I|FN1_ENST00000432072.2_Missense_Mutation_p.T405I|FN1_ENST00000359671.1_Missense_Mutation_p.T405I|FN1_ENST00000346544.3_Missense_Mutation_p.T405I|FN1_ENST00000426059.1_Missense_Mutation_p.T405I|FN1_ENST00000357009.2_Missense_Mutation_p.T405I|FN1_ENST00000421182.1_Missense_Mutation_p.T405I|FN1_ENST00000345488.5_Missense_Mutation_p.T405I|FN1_ENST00000357867.4_Missense_Mutation_p.T405I|FN1_ENST00000446046.1_Missense_Mutation_p.T405I|FN1_ENST00000443816.1_Missense_Mutation_p.T405I			P02751	FINC_HUMAN	fibronectin 1	405	Collagen-binding.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACTCACCAGTGTGGTCTGT	0.488													False	0	False	2:216288871	0	A	216288871	G	A	216288871	3	1	85	1	0	0	0	0	1	0	0	0	6002	1029	36	2	6408	2	FN1	2	216288871	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08		216288871	26910502	6	7380											
PTPN23	25930	broad.mit.edu	37	chr3	47453870	47453870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagctgcctcagctggtgCggcgcatgcggcagcagaga	16	12	1	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:47453870C>T	ENST00000265562.4	+	23	4353	c.4276C>T	c.(4276-4278)Cgg>Tgg	p.R1426W	PTPN23_ENST00000431726.1_Missense_Mutation_p.R1300W	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1426	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.R1426W(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCAGCTGGTGCGGCGCATGCG	0.647													False	0	False	3:47453870	0	T	47453870	C	T	47453870	3	4	85	1	0	0	0	0	1	0	0	0	12867	759	27	1	4366	1	PTPN23	3	47453870	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08		47453870	150568560	7	7381											
APPL1	26060	broad.mit.edu	37	chr3	57282266	57282266	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atagagaccatgcaacagacAatagaggatttggaagtagc	11	6	0	3			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:57282266A>C	ENST00000288266.3	+	10	897	c.750A>C	c.(748-750)acA>acC	p.T250T		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	250	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TGCAACAGACAATAGAGGATT	0.428													False	0	False	3:57282266	0	C	57282266	A	C	57282266	2	2	85	1	0	0	0	0	0	0	0	1	819	117	5	4		4	APPL1	3	57282266	Silent	SNP	A	TCGA-IB-7646-01A-11D-2154-08	9828396	57282266	140740164	8	7382											
ARHGAP31	57514	broad.mit.edu	37	chr3	119121128	119121128	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caccaacagcacgccgtgcaGaacacccccgaaggagctgc	10	17	0	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:119121128G>C	ENST00000264245.4	+	10	2061	c.1529G>C	c.(1528-1530)aGa>aCa	p.R510T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	510					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACGCCGTGCAGAACACCCCCG	0.592													False	0	False	3:119121128	0	C	119121128	G	C	119121128	3	2	85	1	0	0	0	0	1	0	0	0	882	942	33	5	1567	5	ARHGAP31	3	119121128	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	61838862	119121128	78901302	9	7383											
TRIM42	287015	broad.mit.edu	37	chr3	140397360	140397360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatgagagccgctgctgcCgcaataccatcatcactttc	7	14	2	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr3:140397360C>T	ENST00000286349.3	+	1	480	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	97						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCTGCTGCCGCAATACCAT	0.542													False	0	False	3:140397360	0	T	140397360	C	T	140397360	3	4	85	1	0	0	0	0	1	0	0	0	16600	652	23	1	291	1	TRIM42	3	140397360	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	21276232	140397360	57625070	10	7384											
CCKAR	886	broad.mit.edu	37	chr4	26491074	26491074	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcaggaatatcaaggAgtacaagagaatctgcaccg	12	8	2	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:26491074A>C	ENST00000295589.3	-	2	339	c.145T>G	c.(145-147)Tcc>Gcc	p.S49A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	49					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AATATCAAGGAGTACAAGAGA	0.547													False	0	False	4:26491074	0	C	26491074	A	C	26491074	3	2	85	1	0	0	0	0	1	0	0	0	2901	304	11	4	1157	4	CCKAR	4	26491074	Missense_Mutation	SNP	A	TCGA-IB-7646-01A-11D-2154-08		26491074	164663202	11	7385											
GABRB1	2560	broad.mit.edu	37	chr4	47322169	47322169	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaccacagctgcatgtatgAtggatcttcgaagatatcca	8	10	1	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:47322169A>T	ENST00000295454.3	+	5	779	c.487A>T	c.(487-489)Atg>Ttg	p.M163L	GABRB1_ENST00000538619.1_Missense_Mutation_p.M93L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	163					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGCATGTATGATGGATCTTCG	0.423													False	0	False	4:47322169	0	T	47322169	A	T	47322169	3	4	85	1	0	0	0	0	1	0	0	0	6208	333	12	5	505	5	GABRB1	4	47322169	Missense_Mutation	SNP	A	TCGA-IB-7646-01A-11D-2154-08	20831095	47322169	143832107	12	7386											
IGJ	3512	broad.mit.edu	37	chr4	71522118	71522118	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaccaccatatacgagtggGaccacagctgtgtagcactt	9	12	1	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:71522118G>T	ENST00000254801.4	-	4	577	c.408C>A	c.(406-408)gtC>gtA	p.V136V	IGJ_ENST00000543780.1_Silent_p.V152V|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	136					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			ATACGAGTGGGACCACAGCTG	0.453													False	0	True	4:71522118	0	T	71522118	G	T	71522118	2	4	85	1	0	0	0	0	0	0	0	1	7642	1161	41	3		3	IGJ	4	71522118	Silent	SNP	G	TCGA-IB-7646-01A-11D-2154-08	24199949	71522118	119632158	13	7387											
RAPGEF2	9693	broad.mit.edu	37	chr4	160260455	160260455	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggagtaatcaaacaaagaaGacttccagatcagctttcca	8	9	2	3			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:160260455G>T	ENST00000264431.4	+	13	2419	c.2000G>T	c.(1999-2001)aGa>aTa	p.R667I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	667	Ras-associating.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAACAAAGAAGACTTCCAGAT	0.438													False	0	False	4:160260455	0	T	160260455	G	T	160260455	3	4	85	1	0	0	0	0	1	0	0	0	13123	942	33	3	2050	3	RAPGEF2	4	160260455	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	88738337	160260455	30893821	14	7388											
CPE	1363	broad.mit.edu	37	chr4	166418730	166418730	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaattgatggaatggTggaaaatgatgtcagaaact	13	2	1	4			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:166418730T>C	ENST00000402744.4	+	9	1679	c.1399T>C	c.(1399-1401)Tgg>Cgg	p.W467R		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	467					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATGGAATGGTGGAAAATGAT	0.289													False	0	False	4:166418730	0	C	166418730	T	C	166418730	3	2	85	1	0	0	0	0	1	0	0	0	3822	1696	59	4	1433	4	CPE	4	166418730	Missense_Mutation	SNP	T	TCGA-IB-7646-01A-11D-2154-08	6158275	166418730	24735546	15	7389											
FRG1	2483	broad.mit.edu	37	chr4	190878627	190878627	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggacatagaagcaaaaagTaaaacagcaggagaagaaga	13	4	0	4			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr4:190878627T>C	ENST00000226798.4	+	6	729	c.507T>C	c.(505-507)agT>agC	p.S169S	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	169					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAGCAAAAAGTAAAACAGCAG	0.358													False	0	True	4:190878627	0	C	190878627	T	C	190878627	2	2	85	1	0	0	0	0	0	0	0	1	6088	1635	57	4		4	FRG1	4	190878627	Silent	SNP	T	TCGA-IB-7646-01A-11D-2154-08	24459897	190878627	275649	16	7390											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	85	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-IB-7646-01A-11D-2154-08		78610444	102304816	17	7391											
PCDHB7	0	broad.mit.edu	37	chr5	140554036	140554036	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagaccgcggctcccccgcGctgagcagcgaggcgctggt	15	16	0	2	rs17844465		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:140554036G>T	ENST00000231137.3	+	1	1794	c.1620G>T	c.(1618-1620)gcG>gcT	p.A540A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		540	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCCGCGCTGAGCAGCG	0.701													False	0	False	5:140554036	0	T	140554036	G	T	140554036	2	4	85	1	0	0	0	0	0	0	0	1	11615	1074	38	3		3	PCDHB7	5	140554036	Silent	SNP	G	TCGA-IB-7646-01A-11D-2154-08	61943592	140554036	40361224	18	7392											
GABRA6	2559	broad.mit.edu	37	chr5	161115979	161115979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacgatggatgtttttttcCgccagacctggactgatgag	11	8	0	3			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr5:161115979C>T	ENST00000274545.5	+	4	683	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Intron			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	84					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTTTTTTCCGCCAGACCTG	0.408										TCGA Ovarian(5;0.080)			False	0	False	5:161115979	0	T	161115979	C	T	161115979	3	4	85	1	0	0	0	0	1	0	0	0	6207	652	23	1	264	1	GABRA6	5	161115979	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	20561943	161115979	19799281	19	7393											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	85	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-7646-01A-11D-2154-08		7393450	163721617	20	7394											
PXT1	222659	broad.mit.edu	37	chr6	36368236	36368236	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaactgaagcctcacctctcGaaccatcctatgatcaatgt	5	13	3	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:36368236G>A	ENST00000454782.2	-	4	778	c.295C>T	c.(295-297)Cga>Tga	p.R99*		NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	16						peroxisome											CTCACCTCTCGAACCATCCTA	0.493													False	0	False	6:36368236	0	A	36368236	G	A	36368236	4	1	85	1	0	0	0	0	0	1	0	0	12932	1066	37	1	117	1	PXT1	6	36368236	Nonsense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	28974786	36368236	134746831	21	7395											
TMEM30A	55754	broad.mit.edu	37	chr6	75965841	75965841	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatggtaatgtcagctgtatTactactgtttctatatttat	6	5	2	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:75965841T>C	ENST00000230461.6	-	7	1392	c.1063A>G	c.(1063-1065)Aat>Gat	p.N355D	TMEM30A_ENST00000370050.5_Missense_Mutation_p.N236D|TMEM30A_ENST00000475111.2_Missense_Mutation_p.N319D	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	355						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAGCTGTATTACTACTGTTT	0.358													False	0	False	6:75965841	0	C	75965841	T	C	75965841	3	2	85	1	0	0	0	0	1	0	0	0	16235	1754	61	4	26	4	TMEM30A	6	75965841	Missense_Mutation	SNP	T	TCGA-IB-7646-01A-11D-2154-08	39597605	75965841	95149226	22	7396											
BVES	11149	broad.mit.edu	37	chr6	105563588	105563588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacatgctggaggtaccccGaagaaactggtgcaagccgt	14	10	0	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:105563588G>A	ENST00000314641.5	-	7	1147	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	BVES_ENST00000336775.5_Missense_Mutation_p.R311W|BVES_ENST00000446408.2_Missense_Mutation_p.R311W	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	311					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	p.R311W(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GAGGTACCCCGAAGAAACTGG	0.478													False	0	True	6:105563588	0	A	105563588	G	A	105563588	3	1	85	1	0	0	0	0	1	0	0	0	1582	1057	37	1	159	1	BVES	6	105563588	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	29597747	105563588	65551479	23	7397											
IL20RA	53832	broad.mit.edu	37	chr6	137323435	137323435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtgataaagttaatcaCgattttttcagcaggcacaa	10	6	2	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr6:137323435C>T	ENST00000367748.1	-	6	1175	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	IL20RA_ENST00000316649.5_Missense_Mutation_p.V308M|IL20RA_ENST00000541547.1_Missense_Mutation_p.V259M	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	308	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AAGTTAATCACGATTTTTTCA	0.318													False	0	False	6:137323435	0	T	137323435	C	T	137323435	3	4	85	1	0	0	0	0	1	0	0	0	7718	536	19	1	743	1	IL20RA	6	137323435	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	31759847	137323435	33791632	24	7398											
USP42	84132	broad.mit.edu	37	chr7	6189801	6189801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagaacccatgaccctaaaCggtgctaatagtgcagacag	9	11	0	3			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:6189801C>T	ENST00000306177.5	+	13	2132	c.1974C>T	c.(1972-1974)aaC>aaT	p.N658N		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	658					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TGACCCTAAACGGTGCTAATA	0.567													False	0	True	7:6189801	0	T	6189801	C	T	6189801	2	4	85	1	0	0	0	0	0	0	0	1	17157	535	19	1		1	USP42	7	6189801	Silent	SNP	C	TCGA-IB-7646-01A-11D-2154-08		6189801	152948862	25	7399											
DPY19L1	23333	broad.mit.edu	37	chr7	35051041	35051041	+	Missense_Mutation	SNP	G	G	A													cattattttggtataaatccGgtaccaactggccaaaatta							TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:35051041G>A	ENST00000310974.4	-	5	496	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	118						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GTATAAATCCGGTACCAACTG	0.338													False	0	False	7:35051041	0	A	35051041	G	A	35051041	3	1	85	1	0	0	0	0	1	0	0	0	4770	1115	39	1	1747	1	DPY19L1	7	35051041	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	28861240	35051041	124087622	26	7400	129	2									
DPY19L1	23333	broad.mit.edu	37	chr7	35051048	35051048	+	Silent	SNP	A	A	G													ttggtataaatccggtaccaActggccaaaattacctattt							TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:35051048A>G	ENST00000310974.4	-	5	489	c.345T>C	c.(343-345)agT>agC	p.S115S		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	115						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCCGGTACCAACTGGCCAAAA	0.323													False	0	False	7:35051048	0	G	35051048	A	G	35051048	2	3	85	1	0	0	0	0	0	0	0	1	4770	40	2	4		4	DPY19L1	7	35051048	Silent	SNP	A	TCGA-IB-7646-01A-11D-2154-08	7	35051048	124087615	27	7401	129	2									
INHBA	3624	broad.mit.edu	37	chr7	41729807	41729807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactgctcacaggcaatcCgaacgtccagggagctcttg	12	13	2	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:41729807C>T	ENST00000242208.4	-	3	968	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.R241Q|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	241					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACAGGCAATCCGAACGTCCAG	0.572										TSP Lung(11;0.080)			False	0	False	7:41729807	0	T	41729807	C	T	41729807	3	4	85	1	0	0	0	0	1	0	0	0	7791	652	23	1	562	1	INHBA	7	41729807	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	6678759	41729807	117408856	28	7402											
GLI3	2737	broad.mit.edu	37	chr7	42079807	42079807	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtacgttttcggctcggcctGgctgacagcctggggctgga	16	11	0	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:42079807G>T	ENST00000395925.3	-	7	942	c.858C>A	c.(856-858)gcC>gcA	p.A286A	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	286					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGCTCGGCCTGGCTGACAGCC	0.468									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	False	7:42079807	0	T	42079807	G	T	42079807	2	4	85	1	0	0	0	0	0	0	0	1	6484	1335	47	3		3	GLI3	7	42079807	Silent	SNP	G	TCGA-IB-7646-01A-11D-2154-08	350000	42079807	117058856	29	7403											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	85	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-IB-7646-01A-11D-2154-08	2073971	44153778	114984885	30	7404											
POM121L12	285877	broad.mit.edu	37	chr7	53104077	53104077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccagggcctctgaagcCgagcctcggcccctggagcc	14	17	1	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:53104077C>T	ENST00000408890.4	+	1	729	c.713C>T	c.(712-714)cCg>cTg	p.P238L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	238										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTCTGAAGCCGAGCCTCGGC	0.652													False	0	False	7:53104077	0	T	53104077	C	T	53104077	3	4	85	1	0	0	0	0	1	0	0	0	12310	652	23	1	715	1	POM121L12	7	53104077	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	8950299	53104077	106034586	31	7405											
FKBP6	8468	broad.mit.edu	37	chr7	72744195	72744195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggccttctgagcatgcGgagaggagagctggccaggt	18	9	1	3	rs3950376		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:72744195G>A	ENST00000252037.4	+	4	377	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	103	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.R103Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGAGCATGCGGAGAGGAGAG	0.537													False	0	True	7:72744195	0	A	72744195	G	A	72744195	3	1	85	1	0	0	0	0	1	0	0	0	5952	1116	39	1	368	1	FKBP6	7	72744195	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	19640118	72744195	86394468	32	7406											
FKBP6	8468	broad.mit.edu	37	chr7	72744255	72744255	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgcctatggaacgctgggctGccctcccttgatccccccaa	9	18	0	1	rs1064197		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:72744255G>C	ENST00000252037.4	+	4	437	c.368G>C	c.(367-369)tGc>tCc	p.C123S	FKBP6_ENST00000431982.2_Missense_Mutation_p.C118S|FKBP6_ENST00000413573.2_Missense_Mutation_p.C93S	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	123	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.C123S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACGCTGGGCTGCCCTCCCTTG	0.547													False	0	True	7:72744255	0	C	72744255	G	C	72744255	3	2	85	1	0	0	0	0	1	0	0	0	5952	1319	46	5	428	5	FKBP6	7	72744255	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	60	72744255	86394408	33	7407											
DPP6	1804	broad.mit.edu	37	chr7	154596629	154596629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtgatctttgcagctActtcctgagcacggaggacc	11	12	1	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr7:154596629A>G	ENST00000404039.1	+	15	1897	c.1310A>G	c.(1309-1311)tAc>tGc	p.Y437C	DPP6_ENST00000332007.3_Missense_Mutation_p.Y439C|DPP6_ENST00000377770.3_Missense_Mutation_p.Y501C|DPP6_ENST00000427557.1_Missense_Mutation_p.Y394C	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	501					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTTTGCAGCTACTTCCTGAGC	0.577													False	0	False	7:154596629	0	G	154596629	A	G	154596629	3	3	85	1	0	0	0	0	1	0	0	0	4760	391	14	4	1676	4	DPP6	7	154596629	Missense_Mutation	SNP	A	TCGA-IB-7646-01A-11D-2154-08	81852374	154596629	4542034	34	7408											
ARHGEF10	9639	broad.mit.edu	37	chr8	1882002	1882002	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacctcaaaaagtgatcaAgttaggcgtcctaccagtta	8	9	2	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:1882002A>G	ENST00000518288.1	+	27	3351	c.3188A>G	c.(3187-3189)aAg>aGg	p.K1063R	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.K1001R|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.K1064R|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K1035R|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K1039R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1064					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AAAGTGATCAAGTTAGGCGTC	0.433													False	0	False	8:1882002	0	G	1882002	A	G	1882002	3	3	85	1	0	0	0	0	1	0	0	0	896	72	3	4	3214	4	ARHGEF10	8	1882002	Missense_Mutation	SNP	A	TCGA-IB-7646-01A-11D-2154-08		1882002	144482020	35	7409											
ESCO2	157570	broad.mit.edu	37	chr8	27634027	27634027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacaactgaaataaatagaCtgccatcagcaaatcaaggc	6	9	2	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:27634027C>T	ENST00000305188.8	+	3	440	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	68					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AATAAATAGACTGCCATCAGC	0.368									SC Phocomelia syndrome				False	0	False	8:27634027	0	T	27634027	C	T	27634027	2	4	85	1	0	0	0	0	0	0	0	1	5281	564	20	2		2	ESCO2	8	27634027	Silent	SNP	C	TCGA-IB-7646-01A-11D-2154-08	25752025	27634027	118729995	36	7410											
UNC5D	137970	broad.mit.edu	37	chr8	35647893	35647893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggaatttatcttatttcGctacacaaagtagcccatct	5	10	2	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:35647893G>A	ENST00000287272.2	+	16	2487	c.2467G>A	c.(2467-2469)Gct>Act	p.A823T	UNC5D_ENST00000449677.1_Missense_Mutation_p.A468T|UNC5D_ENST00000404895.2_Missense_Mutation_p.A892T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A825T|UNC5D_ENST00000416672.1_Missense_Mutation_p.A897T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A887T			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	892					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ATCTTATTTCGCTACACAAAG	0.393													False	0	False	8:35647893	0	A	35647893	G	A	35647893	3	1	85	1	0	0	0	0	1	0	0	0	17079	1087	38	1	2740	1	UNC5D	8	35647893	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	8013866	35647893	110716129	37	7411											
SLC30A8	169026	broad.mit.edu	37	chr8	118165302	118165302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgaagcctccctctaagCggctgacatttggatggcac	10	13	1	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr8:118165302C>T	ENST00000427715.2	+	6	678	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	SLC30A8_ENST00000521243.1_Missense_Mutation_p.R82W|SLC30A8_ENST00000519688.1_Missense_Mutation_p.R82W|SLC30A8_ENST00000456015.2_Missense_Mutation_p.R131W	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	131					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCCCTCTAAGCGGCTGACATT	0.507													False	0	False	8:118165302	0	T	118165302	C	T	118165302	3	4	85	1	0	0	0	0	1	0	0	0	14641	759	27	1	401	1	SLC30A8	8	118165302	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	82517409	118165302	28198720	38	7412											
ANK3	288	broad.mit.edu	37	chr10	61833923	61833923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagtctcttctttaacaCgcatgcctttgcttaaaacc	6	11	2	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:61833923C>T	ENST00000280772.2	-	37	6907	c.6716G>A	c.(6715-6717)cGt>cAt	p.R2239H	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTTAACACGCATGCCTTT	0.413													False	0	False	10:61833923	0	T	61833923	C	T	61833923	3	4	85	1	0	0	0	0	1	0	0	0	622	536	19	1	6758	1	ANK3	10	61833923	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08		61833923	73700824	39	7413											
SEC24C	9632	broad.mit.edu	37	chr10	75530836	75530836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcatatgcacaaggagattCggcagctactgagctaaagc	11	9	1	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:75530836C>T	ENST00000339365.2	+	24	3430	c.3268C>T	c.(3268-3270)Cgg>Tgg	p.R1090W	SEC24C_ENST00000411652.2_Missense_Mutation_p.R971W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R1090W|SEC24C_ENST00000540668.1_Missense_Mutation_p.R338W|SEC24C_ENST00000535742.1_Missense_Mutation_p.R338W	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	1090					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAAGGAGATTCGGCAGCTACT	0.488													False	0	False	10:75530836	0	T	75530836	C	T	75530836	3	4	85	1	0	0	0	0	1	0	0	0	14077	875	31	1	3354	1	SEC24C	10	75530836	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	13696913	75530836	60003911	40	7414											
RRP12	23223	broad.mit.edu	37	chr10	99125894	99125895	+	Frame_Shift_Ins	INS	-	-	A													ttcctcttcctccatcttgtINStgccgtctgcctcctccctt							TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:99125894_99125895insA	ENST00000370992.4	-	29	3598_3599	c.3487_3488insT	c.(3487-3489)aacfs	p.N1163fs	RRP12_ENST00000315563.6_Frame_Shift_Ins_p.N1063fs|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Frame_Shift_Ins_p.N881fs|RRP12_ENST00000414986.1_Frame_Shift_Ins_p.N1102fs	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1163						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTCCATCTTGTTGCCGTCTGCC	0.599													False	0	False	10:99125894	0	A	99125895	-	A	99125894	7	5	85	1	0	1	1	0	0	0	0	0	13765	1725	60	0	429	0	RRP12	10	99125894	Frame_Shift_Ins	INS	-	TCGA-IB-7646-01A-11D-2154-08	23595058	99125894	36408853	41	7415											
GLRX3	10539	broad.mit.edu	37	chr10	131959074	131959074	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttagaattctcagaaaatCgaccgattagatggtgcaca	8	8	1	3			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr10:131959074C>T	ENST00000368644.1	+	4	313	c.291C>T	c.(289-291)atC>atT	p.I97I	GLRX3_ENST00000331244.5_Silent_p.I97I	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	97	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CTCAGAAAATCGACCGATTAG	0.378													False	0	False	10:131959074	0	T	131959074	C	T	131959074	2	4	85	1	0	0	0	0	0	0	0	1	6506	874	31	1		1	GLRX3	10	131959074	Silent	SNP	C	TCGA-IB-7646-01A-11D-2154-08	32833180	131959074	3575673	42	7416											
SAC3D1	29901	broad.mit.edu	37	chr11	64812163	64812163	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcatggcagaggaggaAgatgagggcacggacagacc	18	7	1	4			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:64812163A>C	ENST00000398846.1	+	2	1430	c.1041A>C	c.(1039-1041)gaA>gaC	p.E347D	SAC3D1_ENST00000530213.1_3'UTR|SAC3D1_ENST00000531072.1_Missense_Mutation_p.E347D	NM_013299.3	NP_037431.3			SAC3 domain containing 1											endometrium(2)|lung(1)	3						CAGAGGAGGAAGATGAGGGCA	0.602													False	0	False	11:64812163	0	C	64812163	A	C	64812163	3	2	85	1	0	0	0	0	1	0	0	0	13881	69	3	4	1047	4	SAC3D1	11	64812163	Missense_Mutation	SNP	A	TCGA-IB-7646-01A-11D-2154-08		64812163	70194353	43	7417											
EFEMP2	30008	broad.mit.edu	37	chr11	65638816	65638816	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcaggcctcagggatgGtcagacactcgttgacatct	11	12	3	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:65638816G>T	ENST00000307998.6	-	4	409	c.179C>A	c.(178-180)aCc>aAc	p.T60N	EFEMP2_ENST00000528176.1_Missense_Mutation_p.T60N	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	60	EGF-like 1; atypical.				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CTCAGGGATGGTCAGACACTC	0.642													False	0	False	11:65638816	0	T	65638816	G	T	65638816	3	4	85	1	0	0	0	0	1	0	0	0	4972	1261	44	3	1184	3	EFEMP2	11	65638816	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	826653	65638816	69367700	44	7418											
CTSF	8722	broad.mit.edu	37	chr11	66333389	66333389	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaggcccagcaggagcCacacatgccctacaagagat	11	12	0	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:66333389C>A	ENST00000310325.5	-	7	986	c.877G>T	c.(877-879)Ggc>Tgc	p.G293C		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	293					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGCAGGAGCCACACATGCCC	0.622													False	0	True	11:66333389	0	A	66333389	C	A	66333389	3	1	85	1	0	0	0	0	1	0	0	0	4059	594	21	3	605	3	CTSF	11	66333389	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	694573	66333389	68673127	45	7419											
MRGPRF	116535	broad.mit.edu	37	chr11	68773653	68773653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcatgacggccggaggcGgcagcatcgcgatctgctcg	15	12	2	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:68773653G>A	ENST00000309099.6	-	3	507	c.125C>T	c.(124-126)cCg>cTg	p.P42L	MRGPRF_ENST00000441623.1_Missense_Mutation_p.P42L	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	42						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCCGGAGGCGGCAGCATCGC	0.632													False	0	False	11:68773653	0	A	68773653	G	A	68773653	3	1	85	1	0	0	0	0	1	0	0	0	9832	1116	39	1	910	1	MRGPRF	11	68773653	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	2440264	68773653	66232863	46	7420											
P2RY6	0	broad.mit.edu	37	chr11	73008405	73008405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtattggaggcctttgcagCggcctacaaaggcacgcggc	14	11	0	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:73008405C>T	ENST00000393590.2	+	2	1141	c.842C>T	c.(841-843)gCg>gTg	p.A281V	P2RY6_ENST00000542092.1_Missense_Mutation_p.A281V|P2RY6_ENST00000540342.1_Missense_Mutation_p.A281V|P2RY6_ENST00000393591.1_Missense_Mutation_p.A281V|P2RY6_ENST00000540124.1_Missense_Mutation_p.A281V|P2RY6_ENST00000538328.1_Missense_Mutation_p.A281V|P2RY6_ENST00000349767.2_Missense_Mutation_p.A281V|P2RY6_ENST00000393592.2_Missense_Mutation_p.A281V	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	281					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GCCTTTGCAGCGGCCTACAAA	0.602													False	0	False	11:73008405	0	T	73008405	C	T	73008405	3	4	85	1	0	0	0	0	1	0	0	0	11422	768	27	1	844	1	P2RY6	11	73008405	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	4234752	73008405	61998111	47	7421											
ARHGEF17	9828	broad.mit.edu	37	chr11	73020596	73020596	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaagctccctattggatcagGactgcaggcctgacagtgat	12	10	1	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:73020596G>C	ENST00000263674.3	+	1	1263	c.913G>C	c.(913-915)Gac>Cac	p.D305H		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	305					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ATTGGATCAGGACTGCAGGCC	0.632													False	0	False	11:73020596	0	C	73020596	G	C	73020596	3	2	85	1	0	0	0	0	1	0	0	0	902	1174	41	5	915	5	ARHGEF17	11	73020596	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	12191	73020596	61985920	48	7422											
CTSC	1075	broad.mit.edu	37	chr11	88027341	88027341	+	Frame_Shift_Del	DEL	G	G	-													gtcagtgccatagcccacaaGcagaacagcatgattagtca							TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr11:88027341delG	ENST00000227266.5	-	7	1339	c.1225delC	c.(1225-1227)cttfs	p.L409fs		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	409					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGCCCACAAGCAGAACAGCA	0.502													False	1	False	11:88027341	0	-	88027341	G	-	88027341	7	5	85	1	0	1	0	1	0	0	0	0	4056	971	34	0	170	0	CTSC	11	88027341	Frame_Shift_Del	DEL	G	TCGA-IB-7646-01A-11D-2154-08	15006745	88027341	46979175	49	7423											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	85	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08		25398284	108453611	50	7424											
PRICKLE1	0	broad.mit.edu	37	chr12	42854329	42854329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttagactctttaaggacTctgcactcctgtgcagcatg	8	11	2	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:42854329T>C	ENST00000455697.1	-	8	2063	c.1778A>G	c.(1777-1779)gAg>gGg	p.E593G	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E593G|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E593G|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E593G|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E593G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	593					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTTTAAGGACTCTGCACTCCT	0.438													False	0	False	12:42854329	0	C	42854329	T	C	42854329	3	2	85	1	0	0	0	0	1	0	0	0	12562	1551	54	4	721	4	PRICKLE1	12	42854329	Missense_Mutation	SNP	T	TCGA-IB-7646-01A-11D-2154-08	17456045	42854329	90997566	51	7425											
BEST3	144453	broad.mit.edu	37	chr12	70048804	70048804	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cgagagccagccacaatgttGatcccactgatctctgagga	10	12	1	4			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:70048804G>C	ENST00000330891.5	-	10	2116	c.1890C>G	c.(1888-1890)atC>atG	p.I630M	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.I524M|BEST3_ENST00000488961.1_Missense_Mutation_p.I417M	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	630						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCACAATGTTGATCCCACTGA	0.468													False	0	False	12:70048804	0	C	70048804	G	C	70048804	3	2	85	1	0	0	0	0	1	0	0	0	1410	1280	45	5	120	5	BEST3	12	70048804	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	27194475	70048804	63803091	52	7426											
NUAK1	9891	broad.mit.edu	37	chr12	106461627	106461627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcatcacagtcacacacGctgctcttatagccccagtt	8	14	3	0	rs143829749		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr12:106461627G>A	ENST00000261402.2	-	7	2318	c.939C>T	c.(937-939)agC>agT	p.S313S		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	313							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AGTCACACACGCTGCTCTTAT	0.587													False	0	True	12:106461627	0	A	106461627	G	A	106461627	2	1	85	1	0	0	0	0	0	0	0	1	10780	1078	38	1		1	NUAK1	12	106461627	Silent	SNP	G	TCGA-IB-7646-01A-11D-2154-08	36412823	106461627	27390268	53	7427											
ING1	3621	broad.mit.edu	37	chr13	111368263	111368263	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccggggctgcagttcggAccgcctcccgcgacccgcgg	17	17	0	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr13:111368263A>G	ENST00000375774.3	+	1	935	c.473A>G	c.(472-474)gAc>gGc	p.D158G	ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	158					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCAGTTCGGACCGCCTCCCG	0.711													False	0	False	13:111368263	0	G	111368263	A	G	111368263	3	3	85	1	0	0	0	0	1	0	0	0	7785	275	10	4	623	4	ING1	13	111368263	Missense_Mutation	SNP	A	TCGA-IB-7646-01A-11D-2154-08		111368263	3801615	54	7428											
MYH6	4624	broad.mit.edu	37	chr14	23869987	23869987	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgtggctgcttggtctccagGgtggcgttgatgcgcgtcac	16	11	2	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:23869987G>C	ENST00000405093.3	-	13	1411	c.1341C>G	c.(1339-1341)acC>acG	p.T447T	MYH6_ENST00000356287.3_Silent_p.T447T	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	447	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGTCTCCAGGGTGGCGTTGA	0.582													False	0	True	14:23869987	0	C	23869987	G	C	23869987	2	2	85	1	0	0	0	0	0	0	0	1	10105	1219	43	5		5	MYH6	14	23869987	Silent	SNP	G	TCGA-IB-7646-01A-11D-2154-08		23869987	83479553	55	7429											
LTB4R	1241	broad.mit.edu	37	chr14	24785420	24785420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaatcttcgaggctgtcaCgggcttcctgctgcccttcc	9	15	3	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:24785420C>T	ENST00000396789.4	+	2	2288	c.563C>T	c.(562-564)aCg>aTg	p.T188M	LTB4R_ENST00000345363.3_Missense_Mutation_p.T188M|LTB4R_ENST00000396782.2_Missense_Mutation_p.T188M	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	188					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GAGGCTGTCACGGGCTTCCTG	0.667													False	0	True	14:24785420	0	T	24785420	C	T	24785420	3	4	85	1	0	0	0	0	1	0	0	0	9133	536	19	1	565	1	LTB4R	14	24785420	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	915433	24785420	82564120	56	7430											
LRFN5	145581	broad.mit.edu	37	chr14	42360832	42360832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaacgctgccccagtccGtgtccaaacaagctgtggga	12	12	0	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:42360832G>A	ENST00000298119.4	+	4	2954	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	589						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCCAGTCCGTGTCCAAACA	0.463										HNSCC(30;0.082)			False	0	False	14:42360832	0	A	42360832	G	A	42360832	3	1	85	1	0	0	0	0	1	0	0	0	9003	1145	40	1	1771	1	LRFN5	14	42360832	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	17575412	42360832	64988708	57	7431											
KLHL28	54813	broad.mit.edu	37	chr14	45398354	45398354	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagaccctgagtgaccaccGacgacataaaggtagttatc	10	10	0	3			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:45398354G>A	ENST00000396128.4	-	5	1712	c.1593C>T	c.(1591-1593)gtC>gtT	p.V531V	KLHL28_ENST00000355081.2_Silent_p.V545V	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	531										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGTGACCACCGACGACATAAA	0.423													False	0	False	14:45398354	0	A	45398354	G	A	45398354	2	1	85	1	0	0	0	0	0	0	0	1	8432	1045	37	1		1	KLHL28	14	45398354	Silent	SNP	G	TCGA-IB-7646-01A-11D-2154-08	3037522	45398354	61951186	58	7432											
CPSF2	53981	broad.mit.edu	37	chr14	92628035	92628035	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gattagaaggctgcctttgtCaagatttttataggataaga	10	4	1	3			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr14:92628035C>T	ENST00000298875.4	+	16	2581	c.2296C>T	c.(2296-2298)Caa>Taa	p.Q766*		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	766					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CTGCCTTTGTCAAGATTTTTA	0.318													False	0	False	14:92628035	0	T	92628035	C	T	92628035	4	4	85	1	0	0	0	0	0	1	0	0	3848	827	29	2	2350	2	CPSF2	14	92628035	Nonsense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	47229681	92628035	14721505	59	7433											
TEKT5	146279	broad.mit.edu	37	chr16	10721628	10721628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgagggtctgcagggtgtCgtcgatggtgaacacctcgt	15	9	1	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:10721628C>T	ENST00000283025.2	-	7	1341	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	424					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGCAGGGTGTCGTCGATGGTG	0.542													False	0	False	16:10721628	0	T	10721628	C	T	10721628	3	4	85	1	0	0	0	0	1	0	0	0	15838	884	31	1	191	1	TEKT5	16	10721628	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08		10721628	79633125	60	7434											
GTF3C1	2975	broad.mit.edu	37	chr16	27544625	27544625	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaccagctcttccctcAgctttcccagcgtctctatg	7	17	4	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:27544625A>C	ENST00000356183.4	-	5	851	c.836T>G	c.(835-837)cTg>cGg	p.L279R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L279R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	279						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTCTTCCCTCAGCTTTCCCAG	0.552													False	0	False	16:27544625	0	C	27544625	A	C	27544625	3	2	85	1	0	0	0	0	1	0	0	0	6919	188	7	4	5625	4	GTF3C1	16	27544625	Missense_Mutation	SNP	A	TCGA-IB-7646-01A-11D-2154-08	16822997	27544625	62810128	61	7435											
CYLD	1540	broad.mit.edu	37	chr16	50813757	50813757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacagtccactttctctGtcagcccagtctgtaatgga	9	13	3	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr16:50813757G>A	ENST00000540145.1	+	9	1735	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	CYLD_ENST00000564326.1_Silent_p.L437L|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000398568.2_Silent_p.L437L|CYLD_ENST00000427738.3_Silent_p.L440L|CYLD_ENST00000569418.1_Silent_p.L437L|CYLD_ENST00000566206.1_Silent_p.L437L|CYLD_ENST00000311559.9_Silent_p.L440L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	440	Interaction with TRAF2.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CACTTTCTCTGTCAGCCCAGT	0.507			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				False	0	False	16:50813757	0	A	50813757	G	A	50813757	2	1	85	1	0	0	0	0	0	0	0	1	4168	1364	48	2		2	CYLD	16	50813757	Silent	SNP	G	TCGA-IB-7646-01A-11D-2154-08	23269132	50813757	39540996	62	7436											
TP53	7157	broad.mit.edu	37	chr17	7577517	7577517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggagtcttccagtgtgAtgatggtgaggatgggcctc	15	8	1	3			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:7577517A>G	ENST00000420246.2	-	7	896	c.764T>C	c.(763-765)aTc>aCc	p.I255T	TP53_ENST00000413465.2_Missense_Mutation_p.I255T|TP53_ENST00000455263.2_Missense_Mutation_p.I255T|TP53_ENST00000269305.4_Missense_Mutation_p.I255T|TP53_ENST00000445888.2_Missense_Mutation_p.I255T|TP53_ENST00000359597.4_Missense_Mutation_p.I255T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	255	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I255S(10)|p.0?(8)|p.I255T(7)|p.I255del(7)|p.I255N(7)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCAGTGTGATGATGGTGAG	0.582		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)			False	0	False	17:7577517	0	G	7577517	A	G	7577517	3	3	85	1	0	0	0	0	1	0	0	0	16464	333	12	4	526	4	TP53	17	7577517	Missense_Mutation	SNP	A	TCGA-IB-7646-01A-11D-2154-08		7577517	73617693	63	7437											
KRT38	8687	broad.mit.edu	37	chr17	39596736	39596736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggtagtcggggcacacGgtggactcgtggcacttgct	16	10	0	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:39596736G>A	ENST00000246646.3	-	1	437	c.438C>T	c.(436-438)acC>acT	p.T146T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	146	Linker 1.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CGGGGCACACGGTGGACTCGT	0.612													False	0	False	17:39596736	0	A	39596736	G	A	39596736	2	1	85	1	0	0	0	0	0	0	0	1	8525	1103	39	1		1	KRT38	17	39596736	Silent	SNP	G	TCGA-IB-7646-01A-11D-2154-08	32019219	39596736	41598474	64	7438											
DHX40	79665	broad.mit.edu	37	chr17	57650476	57650476	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgctgtttgaacattaGgagacagcaatcaaatatat	7	7	1	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:57650476G>A	ENST00000451169.2	+	4	488		c.e4-1		DHX40_ENST00000425628.3_Splice_Site|DHX40_ENST00000251241.4_Splice_Site			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40								ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTGAACATTAGGAGACAGCAA	0.368													False	0	False	17:57650476	0	A	57650476	G	A	57650476	5	1	85	1	0	0	0	0	0	0	1	0	4542	1014	35	2	440	2	DHX40	17	57650476	Splice_Site	SNP	G	TCGA-IB-7646-01A-11D-2154-08	18053740	57650476	23544734	65	7439											
QRICH2	84074	broad.mit.edu	37	chr17	74283929	74283929	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctttcagttccttcCctgcttcttgattcccttcc	4	17	2	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr17:74283929C>G	ENST00000262765.5	-	6	3529	c.3350G>C	c.(3349-3351)gGg>gCg	p.G1117A		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1117							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAGTTCCTTCCCTGCTTCTTG	0.562													False	0	True	17:74283929	0	G	74283929	C	G	74283929	3	3	85	1	0	0	0	0	1	0	0	0	12959	623	22	5	1697	5	QRICH2	17	74283929	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	16633453	74283929	6911281	66	7440											
TMEM200C	645369	broad.mit.edu	37	chr18	5892008	5892008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtatctggcttggggggcGgagtggatcctgctttctgg	19	7	2	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr18:5892008G>A	ENST00000581347.2	-	3	700	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R19C			A6NKL6	T200C_HUMAN	transmembrane protein 200C							integral to membrane		p.R19S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTTGGGGGGCGGAGTGGATCC	0.607													False	0	False	18:5892008	0	A	5892008	G	A	5892008	3	1	85	1	0	0	0	0	1	0	0	0	16207	1116	39	1	1814	1	TMEM200C	18	5892008	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08		5892008	72185240	67	7441											
ADAMTS10	81794	broad.mit.edu	37	chr19	8666006	8666006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaggtccgcagccaccatgGccgccctttccacggtttct	9	17	1	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:8666006G>T	ENST00000270328.4	-	5	882	c.616C>A	c.(616-618)Cca>Aca	p.P206T	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.P206T|ADAMTS10_ENST00000596709.1_5'UTR			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	206					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGCCACCATGGCCGCCCTTTC	0.627													False	0	False	19:8666006	0	T	8666006	G	T	8666006	3	4	85	1	0	0	0	0	1	0	0	0	256	1203	42	3	2779	3	ADAMTS10	19	8666006	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08		8666006	50462977	68	7442											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	85	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-IB-7646-01A-11D-2154-08	5417661	14083667	45045316	69	7443											
TMEM38A	79041	broad.mit.edu	37	chr19	16797152	16797152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaccctccagcagacccGctggctcccagtgtccaaag	8	18	1	1	rs78725797		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:16797152G>A	ENST00000187762.2	+	5	699	c.608G>A	c.(607-609)cGc>cAc	p.R203H		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	203						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CAGCAGACCCGCTGGCTCCCA	0.562													False	0	True	19:16797152	0	A	16797152	G	A	16797152	3	1	85	1	0	0	0	0	1	0	0	0	16241	1087	38	1	626	1	TMEM38A	19	16797152	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	2713485	16797152	42331831	70	7444											
CKM	1158	broad.mit.edu	37	chr19	45818781	45818781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggagcagtgtgggggcaaCgtgtagcccttgatgctgcg	18	9	0	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:45818781C>T	ENST00000221476.3	-	4	597	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	141	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GTGGGGGCAACGTGTAGCCCT	0.682													False	0	False	19:45818781	0	T	45818781	C	T	45818781	2	4	85	1	0	0	0	0	0	0	0	1	3471	523	19	1		1	CKM	19	45818781	Silent	SNP	C	TCGA-IB-7646-01A-11D-2154-08	29021629	45818781	13310202	71	7445											
MYH14	79784	broad.mit.edu	37	chr19	50812427	50812427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgaccacactgaggaacCggcttcggtatggtcatccc	11	12	1	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr19:50812427C>T	ENST00000440075.2	+	42	6000	c.5953C>T	c.(5953-5955)Cgg>Tgg	p.R1985W	MYH14_ENST00000596571.1_Missense_Mutation_p.R1944W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1952W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1985W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1977W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1985W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1952W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1944					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACTGAGGAACCGGCTTCGGTA	0.642													False	0	False	19:50812427	0	T	50812427	C	T	50812427	3	4	85	1	0	0	0	0	1	0	0	0	10100	643	23	1	6115	1	MYH14	19	50812427	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	4993646	50812427	8316556	72	7446											
MATN4	8785	broad.mit.edu	37	chr20	43933094	43933094	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacgatgacagcgacacgCggcacgcgctcctctggcgg	14	15	2	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:43933094C>T	ENST00000537548.1	-	4	661	c.417G>A	c.(415-417)ccG>ccA	p.P139P	MATN4_ENST00000372754.1_Silent_p.P139P|MATN4_ENST00000360607.6_Silent_p.P139P|MATN4_ENST00000372756.1_Silent_p.P139P|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Silent_p.P139P|MATN4_ENST00000353917.5_Silent_p.P139P			O95460	MATN4_HUMAN	matrilin 4	139	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CAGCGACACGCGGCACGCGCT	0.701													False	0	False	20:43933094	0	T	43933094	C	T	43933094	2	4	85	1	0	0	0	0	0	0	0	1	9403	755	27	1		1	MATN4	20	43933094	Silent	SNP	C	TCGA-IB-7646-01A-11D-2154-08		43933094	19092426	73	7447											
TSHZ2	128553	broad.mit.edu	37	chr20	51870106	51870106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaggaggaggacagcGgttcagtagctcaactgcag	17	7	2	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr20:51870106G>A	ENST00000371497.5	+	2	996	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.G34S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G34S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	37					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ggaggaCAGCGGTTCAGTAGC	0.532													False	0	False	20:51870106	0	A	51870106	G	A	51870106	3	1	85	1	0	0	0	0	1	0	0	0	16707	1116	39	1	115	1	TSHZ2	20	51870106	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08	7937012	51870106	11155414	74	7448											
MTMR3	8897	broad.mit.edu	37	chr22	30398961	30398961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtttcaggtcctggaagcGcatccctgccgtcatctaca	9	13	3	0			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:30398961G>A	ENST00000333027.3	+	9	978	c.650G>A	c.(649-651)cGc>cAc	p.R217H	MTMR3_ENST00000401950.2_Missense_Mutation_p.R217H|MTMR3_ENST00000351488.3_Missense_Mutation_p.R217H|MTMR3_ENST00000323630.5_Missense_Mutation_p.R81H|MTMR3_ENST00000406629.1_Missense_Mutation_p.R217H	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	217	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCCTGGAAGCGCATCCCTGCC	0.512													False	0	False	22:30398961	0	A	30398961	G	A	30398961	3	1	85	1	0	0	0	0	1	0	0	0	10012	1087	38	1	676	1	MTMR3	22	30398961	Missense_Mutation	SNP	G	TCGA-IB-7646-01A-11D-2154-08		30398961	20905605	75	7449											
CYP2D6	1565	broad.mit.edu	37	chr22	42524244	42524244	+	Frame_Shift_Del	DEL	T	T	-													ggctgggtcccaggtcatccTgtgctcagttagcagctcat					rs35742686		TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chr22:42524244delT	ENST00000360608.5	-	5	889	c.775delA	c.(775-777)aggfs	p.R259fs	NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000359033.4_Frame_Shift_Del_p.R208fs|CYP2D6_ENST00000389970.3_Frame_Shift_Del_p.R259fs	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	259							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGGTCATCCTGTGCTCAGTT	0.632													False	1	False	22:42524244	0	-	42524244	T	-	42524244	7	5	85	1	0	1	0	1	0	0	0	0	4194	1579	55	0	738	0	CYP2D6	22	42524244	Frame_Shift_Del	DEL	T	TCGA-IB-7646-01A-11D-2154-08	12125283	42524244	8780322	76	7450											
POLA1	5422	broad.mit.edu	37	chrX	24839663	24839663	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaaggaggcagaaaggTgaaagctggagatactgtgt	14	5	1	3			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:24839663T>C	ENST00000379068.3	+	31	3567	c.3524T>C	c.(3523-3525)gTg>gCg	p.V1175A	POLA1_ENST00000379059.3_Missense_Mutation_p.V1169A			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1169					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GGCAGAAAGGTGAAAGCTGGA	0.393													False	0	False	X:24839663	0	C	24839663	T	C	24839663	3	2	85	1	0	0	0	0	1	0	0	0	12256	1696	59	4	3628	4	POLA1	23	24839663	Missense_Mutation	SNP	T	TCGA-IB-7646-01A-11D-2154-08		24839663	130430897	77	7451											
PAGE1	8712	broad.mit.edu	37	chrX	49459355	49459355	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtctacgccgatagattaAtcttcttagaaaacccatat	6	9	3	2			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:49459355A>C	ENST00000376150.3	-	2	151	c.19T>G	c.(19-21)Tta>Gta	p.L7V		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	7					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CGATAGATTAATCTTCTTAGA	0.373													False	0	False	X:49459355	0	C	49459355	A	C	49459355	3	2	85	1	0	0	0	0	1	0	0	0	11457	98	4	4	441	4	PAGE1	23	49459355	Missense_Mutation	SNP	A	TCGA-IB-7646-01A-11D-2154-08	24619692	49459355	105811205	78	7452											
ALAS2	212	broad.mit.edu	37	chrX	55047614	55047614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggatatgcatcagcccagCggttcacagtcttgaacaca	10	11	3	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:55047614C>T	ENST00000330807.5	-	5	646	c.509G>A	c.(508-510)cGc>cAc	p.R170H	ALAS2_ENST00000396198.3_Missense_Mutation_p.R157H|ALAS2_ENST00000335854.4_Missense_Mutation_p.R133H	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	170					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ATCAGCCCAGCGGTTCACAGT	0.483													False	0	False	X:55047614	0	T	55047614	C	T	55047614	3	4	85	1	0	0	0	0	1	0	0	0	485	768	27	1	1282	1	ALAS2	23	55047614	Missense_Mutation	SNP	C	TCGA-IB-7646-01A-11D-2154-08	5588259	55047614	100222946	79	7453											
IRS4	8471	broad.mit.edu	37	chrX	107977753	107977753	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttttcttcagagattTtccacgttcaccatcaccat	5	12	5	1			TCGA-IB-7646-01A-11D-2154-08	TCGA-IB-7646-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e26b2473-9399-4eb8-9574-5b934b560740	5218f2a6-5b5d-4e1a-aaf1-a0cd5e536571	g.chrX:107977753T>A	ENST00000372129.2	-	1	1898	c.1822A>T	c.(1822-1824)Aaa>Taa	p.K608*		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	608						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTCAGAGATTTTCCACGTTCA	0.542													False	0	True	X:107977753	0	A	107977753	T	A	107977753	4	1	85	1	0	0	0	0	0	1	0	0	7892	1850	64	5	1955	5	IRS4	23	107977753	Nonsense_Mutation	SNP	T	TCGA-IB-7646-01A-11D-2154-08	52930139	107977753	47292807	80	7454											
EPHA2	1969	broad.mit.edu	37	chr1	16455955	16455955	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcatctgcaccaccttctcGatggcagtgtagccggccgc	11	15	3	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:16455955G>A	ENST00000358432.5	-	16	2953	c.2799C>T	c.(2797-2799)atC>atT	p.I933I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	933	Negatively regulates interaction with ARHGEF16.|SAM.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CCACCTTCTCGATGGCAGTGT	0.652													False	0	False	1:16455955	0	A	16455955	G	A	16455955	2	1	86	1	0	0	0	0	0	0	0	1	5199	1048	37	1		1	EPHA2	1	16455955	Silent	SNP	G	TCGA-IB-7647-01A-11D-2154-08		16455955	232794666	1	7455											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	86	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-IB-7647-01A-11D-2154-08	6531430	22987385	226263236	2	7456											
ACOT11	26027	broad.mit.edu	37	chr1	55062956	55062956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagcagagactgtagccGcatggtgccggctgagaaga	17	8	0	4			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:55062956G>A	ENST00000371316.3	+	7	714	c.632G>A	c.(631-633)cGc>cAc	p.R211H	ACOT11_ENST00000343744.2_Missense_Mutation_p.R211H|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	211	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	p.R211H(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GACTGTAGCCGCATGGTGCCG	0.627													False	0	False	1:55062956	0	A	55062956	G	A	55062956	3	1	86	1	0	0	0	0	1	0	0	0	149	1087	38	1	658	1	ACOT11	1	55062956	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	32075571	55062956	194187665	3	7457											
HOOK1	51361	broad.mit.edu	37	chr1	60330911	60330911	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcttcagccagatataaatCaaaatggtaggtatctgtga	8	6	4	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:60330911C>A	ENST00000371208.3	+	18	1995	c.1738C>A	c.(1738-1740)Caa>Aaa	p.Q580K	HOOK1_ENST00000465876.1_Intron|HOOK1_ENST00000395561.2_Missense_Mutation_p.Q538K	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	580					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AGATATAAATCAAAATGGTAG	0.363													False	0	True	1:60330911	0	A	60330911	C	A	60330911	3	1	86	1	0	0	0	0	1	0	0	0	7329	827	29	3	1808	3	HOOK1	1	60330911	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	5267955	60330911	188919710	4	7458											
CASQ2	845	broad.mit.edu	37	chr1	116243875	116243877	+	In_Frame_Del	DEL	TCG	TCG	-													agttgggctattcatcatcaTcgtcatcactgtcatcatta					rs7413162	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:116243875_116243877delTCG	ENST00000261448.5	-	11	1424_1426	c.1185_1187delCGA	c.(1183-1188)gacgat>gat	p.395_396DD>D	CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	395	Asp/Glu-rich (acidic).				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		Ttcatcatcatcgtcatcactgt	0.404													False	1	True	1:116243875	0	-	116243877	TCG	-	116243875	7	5	86	1	0	1	0	1	0	0	0	0	2701	1435	50	0	16	0	CASQ2	1	116243875	In_Frame_Del	DEL	TCG	TCGA-IB-7647-01A-11D-2154-08	55912964	116243875	133006746	5	7459											
CACNA1E	777	broad.mit.edu	37	chr1	181732595	181732595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagctcttccgagctgcCcgcctcataaagctcctgcg	9	16	2	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:181732595C>T	ENST00000526775.1	+	33	4851	c.4686C>T	c.(4684-4686)gcC>gcT	p.A1562A	CACNA1E_ENST00000367573.2_Silent_p.A1581A|CACNA1E_ENST00000367570.1_Silent_p.A1581A|CACNA1E_ENST00000357570.5_Silent_p.A1532A|CACNA1E_ENST00000358338.5_Silent_p.A1513A|CACNA1E_ENST00000367567.4_Silent_p.A1188A|CACNA1E_ENST00000360108.3_Silent_p.A1562A	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1581					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCGAGCTGCCCGCCTCATAA	0.463													False	0	True	1:181732595	0	T	181732595	C	T	181732595	2	4	86	1	0	0	0	0	0	0	0	1	2562	610	22	2		2	CACNA1E	1	181732595	Silent	SNP	C	TCGA-IB-7647-01A-11D-2154-08	65488720	181732595	67518026	6	7460											
TMCC2	9911	broad.mit.edu	37	chr1	205241064	205241064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctgggcaagttcatcAacgtgatcctggcgctcatg	12	12	3	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:205241064A>G	ENST00000358024.3	+	5	2331	c.1942A>G	c.(1942-1944)Aac>Gac	p.N648D	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000329800.7_Missense_Mutation_p.N408D|TMCC2_ENST00000545499.1_Missense_Mutation_p.N570D|TMCC2_ENST00000330675.7_Missense_Mutation_p.N423D	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	648						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAAGTTCATCAACGTGATCCT	0.627													False	0	False	1:205241064	0	G	205241064	A	G	205241064	3	3	86	1	0	0	0	0	1	0	0	0	16075	130	5	4	1960	4	TMCC2	1	205241064	Missense_Mutation	SNP	A	TCGA-IB-7647-01A-11D-2154-08	23508469	205241064	44009557	7	7461											
OBSCN	84033	broad.mit.edu	37	chr1	228494661	228494661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggatgagggaggcaccGcacacttatgctgcgagctg	16	9	0	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:228494661G>A	ENST00000570156.2	+	56	14931	c.14857G>A	c.(14857-14859)Gca>Aca	p.A4953T	OBSCN_ENST00000366709.4_Missense_Mutation_p.A1115T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3996T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1630T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A3996T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3996	Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGAGGCACCGCACACTTATG	0.662													False	0	False	1:228494661	0	A	228494661	G	A	228494661	3	1	86	1	0	0	0	0	1	0	0	0	10880	1087	38	1	12160	1	OBSCN	1	228494661	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	23253597	228494661	20755960	8	7462											
ACTA1	58	broad.mit.edu	37	chr1	229568336	229568336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcgtagagggacagcaCggcctggatggccacgtaca	17	10	0	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:229568336C>T	ENST00000366684.3	-	3	523	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	141					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	AGGGACAGCACGGCCTGGATG	0.706													False	0	False	1:229568336	0	T	229568336	C	T	229568336	3	4	86	1	0	0	0	0	1	0	0	0	191	536	19	1	732	1	ACTA1	1	229568336	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	1073675	229568336	19682285	9	7463											
OR2W5	0	broad.mit.edu	37	chr1	247655201	247655201	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctacggaaccatcatctaCgtgtacctgaagccggccaa	8	13	3	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:247655201C>T	ENST00000522351.1	+	0	832							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCATCATCTACGTGTACCTGA	0.532													False	0	False	1:247655201	0	T	247655201	C	T	247655201	1	4	86	0	1	0	0	0	0	0	0	0	11102	536	19	1		1	OR2W5	1	247655201	RNA	SNP	C	TCGA-IB-7647-01A-11D-2154-08	18086865	247655201	1595420	10	7464											
OR2L13	284521	broad.mit.edu	37	chr1	248262826	248262826	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgattcacctcatccacgTggatcctcgtctccacacac	5	17	3	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:248262826T>G	ENST00000366478.2	+	3	486	c.149T>G	c.(148-150)gTg>gGg	p.V50G	OR2L13_ENST00000358120.2_Missense_Mutation_p.V50G	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CTCATCCACGTGGATCCTCGT	0.502													False	0	False	1:248262826	0	G	248262826	T	G	248262826	3	3	86	1	0	0	0	0	1	0	0	0	11074	1696	59	4	151	4	OR2L13	1	248262826	Missense_Mutation	SNP	T	TCGA-IB-7647-01A-11D-2154-08	607625	248262826	987795	11	7465											
OTOF	9381	broad.mit.edu	37	chr2	26702178	26702178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggcattgtagaggcggCggcgctggtccggccaccag	17	11	0	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:26702178C>T	ENST00000272371.2	-	18	2294	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	OTOF_ENST00000403946.3_Missense_Mutation_p.R723H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	723					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGAGGCGGCGGCGCTGGTC	0.652													False	0	True	2:26702178	0	T	26702178	C	T	26702178	3	4	86	1	0	0	0	0	1	0	0	0	11371	768	27	1	4270	1	OTOF	2	26702178	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08		26702178	216497195	12	7466											
TCF7L1	83439	broad.mit.edu	37	chr2	85533483	85533483	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccattaaccagatccttggaAgaaaggtaagacctgccctc	8	12	0	3			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:85533483A>T	ENST00000282111.3	+	9	1419	c.1144A>T	c.(1144-1146)Aga>Tga	p.R382*		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	382					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						GATCCTTGGAAGAAAGGTAAG	0.567													False	0	False	2:85533483	0	T	85533483	A	T	85533483	4	4	86	1	0	0	0	0	0	1	0	0	15779	64	3	5	1178	5	TCF7L1	2	85533483	Nonsense_Mutation	SNP	A	TCGA-IB-7647-01A-11D-2154-08	58831305	85533483	157665890	13	7467											
GPR45	11250	broad.mit.edu	37	chr2	105858390	105858390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaacgcctcagactcgggGtccacccagttgcccgcacc	10	18	1	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:105858390G>A	ENST00000258456.1	+	1	191	c.75G>A	c.(73-75)ggG>ggA	p.G25G		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	25						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CAGACTCGGGGTCCACCCAGT	0.602													False	0	True	2:105858390	0	A	105858390	G	A	105858390	2	1	86	1	0	0	0	0	0	0	0	1	6742	1248	44	2		2	GPR45	2	105858390	Silent	SNP	G	TCGA-IB-7647-01A-11D-2154-08	20324907	105858390	137340983	14	7468											
TTN	7273	broad.mit.edu	37	chr2	179464316	179464316	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcatctcctttgatgctgttCccagattatttacagctgtg	7	10	2	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:179464316C>A	ENST00000589042.1	-	289	56536	c.56312G>T	c.(56311-56313)gGa>gTa	p.G18771V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9898V|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G17130V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9831V|TTN_ENST00000460472.2_Missense_Mutation_p.G9706V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16203V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17130	Fibronectin type-III 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGCTGTTCCCAGATTATT	0.388													False	0	True	2:179464316	0	A	179464316	C	A	179464316	3	1	86	1	0	0	0	0	1	0	0	0	16819	855	30	3	51677	3	TTN	2	179464316	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	73605926	179464316	63735057	15	7469											
TTN	7273	broad.mit.edu	37	chr2	179641506	179641506	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttgtttctctttgtcAtagagatcaccttcttccca	5	11	5	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:179641506A>G	ENST00000589042.1	-	28	5309	c.5085T>C	c.(5083-5085)taT>taC	p.Y1695Y	TTN_ENST00000342175.6_Silent_p.Y1649Y|TTN_ENST00000591111.1_Silent_p.Y1695Y|TTN_ENST00000359218.5_Silent_p.Y1649Y|TTN_ENST00000460472.2_Silent_p.Y1649Y|TTN_ENST00000360870.5_Silent_p.Y1695Y|TTN_ENST00000342992.6_Silent_p.Y1695Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1449							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTTTGTCATAGAGATCAC	0.473													False	0	False	2:179641506	0	G	179641506	A	G	179641506	2	3	86	1	0	0	0	0	0	0	0	1	16819	224	8	4		4	TTN	2	179641506	Silent	SNP	A	TCGA-IB-7647-01A-11D-2154-08	177190	179641506	63557867	16	7470											
CELSR3	1951	broad.mit.edu	37	chr3	48677669	48677669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtggcagggtgctgccccGatctttgggctccagtcggc	15	14	1	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:48677669G>A	ENST00000544264.1	-	35	9644	c.9364C>T	c.(9364-9366)Cgg>Tgg	p.R3122W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R3117W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3117					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCTGCCCCGATCTTTGGGC	0.682													False	0	True	3:48677669	0	A	48677669	G	A	48677669	3	1	86	1	0	0	0	0	1	0	0	0	3246	1057	37	1	597	1	CELSR3	3	48677669	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08		48677669	149344761	17	7471											
PARP14	54625	broad.mit.edu	37	chr3	122422822	122422822	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatggtagcacatcttcactCaaggttgggcctggttttga	11	8	3	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:122422822C>T	ENST00000474629.2	+	7	3581	c.3315C>T	c.(3313-3315)ctC>ctT	p.L1105L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1105	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CATCTTCACTCAAGGTTGGGC	0.483													False	0	False	3:122422822	0	T	122422822	C	T	122422822	2	4	86	1	0	0	0	0	0	0	0	1	11526	813	29	2		2	PARP14	3	122422822	Silent	SNP	C	TCGA-IB-7647-01A-11D-2154-08	73745153	122422822	75599608	18	7472											
IGSF10	285313	broad.mit.edu	37	chr3	151155325	151155325	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aactattttttcattaaatgGatttctaaatgtcggtcttc	5	6	3	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:151155325G>C	ENST00000282466.3	-	6	7023	c.7024C>G	c.(7024-7026)Cca>Gca	p.P2342A	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2342	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCATTAAATGGATTTCTAAAT	0.423													False	0	False	3:151155325	0	C	151155325	G	C	151155325	3	2	86	1	0	0	0	0	1	0	0	0	7647	1174	41	5	851	5	IGSF10	3	151155325	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	28732503	151155325	46867105	19	7473											
PIK3CA	5290	broad.mit.edu	37	chr3	178948163	178948163	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagacaagagaatttgagAggtgagctcgagcaattaaa	11	5	0	4			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:178948163A>G	ENST00000263967.3	+	20	3092	c.2935A>G	c.(2935-2937)Agg>Ggg	p.R979G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	979	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGAATTTGAGAGGTGAGCTCG	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			False	0	False	3:178948163	0	G	178948163	A	G	178948163	5	3	86	1	0	0	0	0	0	0	1	0	11982	318	11	4	3009	4	PIK3CA	3	178948163	Splice_Site	SNP	A	TCGA-IB-7647-01A-11D-2154-08	27792838	178948163	19074267	20	7474											
LMLN	89782	broad.mit.edu	37	chr3	197707289	197707289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagactttgttctttaCgttggtgctctggccaccga	11	10	2	1	rs146220433		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:197707289C>T	ENST00000330198.4	+	6	664	c.642C>T	c.(640-642)taC>taT	p.Y214Y	LMLN_ENST00000420910.2_Silent_p.Y214Y|LMLN_ENST00000332636.5_Silent_p.Y162Y|LMLN_ENST00000482695.1_Silent_p.Y162Y	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	214					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTGTTCTTTACGTTGGTGCTC	0.527													False	0	False	3:197707289	0	T	197707289	C	T	197707289	2	4	86	1	0	0	0	0	0	0	0	1	8900	547	19	1		1	LMLN	3	197707289	Silent	SNP	C	TCGA-IB-7647-01A-11D-2154-08	18759126	197707289	315141	21	7475											
COX7B2	170712	broad.mit.edu	37	chr4	46736995	46736995	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccactcttttggggtaactCtgccaacaggggataggttc	11	10	2	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:46736995C>T	ENST00000396533.1	-	4	465	c.215G>A	c.(214-216)aGa>aAa	p.R72K	COX7B2_ENST00000355591.3_Missense_Mutation_p.R72K|COX7B2_ENST00000302930.5_Missense_Mutation_p.R72K|COX7B2_ENST00000543208.1_Missense_Mutation_p.R71K			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	72						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	p.R71I(1)		large_intestine(1)|lung(4)	5						TGGGGTAACTCTGCCAACAGG	0.428													False	0	False	4:46736995	0	T	46736995	C	T	46736995	3	4	86	1	0	0	0	0	1	0	0	0	3806	913	32	2	34	2	COX7B2	4	46736995	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08		46736995	144417281	22	7476											
ADH1A	124	broad.mit.edu	37	chr4	100205883	100205883	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaacctactcgtttttcaAgcagtagttgctctccgggt	9	10	2	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:100205883A>G	ENST00000209668.2	-	4	450	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	113					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TCGTTTTTCAAGCAGTAGTTG	0.433													False	0	False	4:100205883	0	G	100205883	A	G	100205883	2	3	86	1	0	0	0	0	0	0	0	1	307	69	3	4		4	ADH1A	4	100205883	Silent	SNP	A	TCGA-IB-7647-01A-11D-2154-08	53468888	100205883	90948393	23	7477											
PCDHA2	0	broad.mit.edu	37	chr5	140176361	140176361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgctgactcaggctacaaCgcgtggctttcgtacgagct	12	12	1	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr5:140176361C>T	ENST00000526136.1	+	1	1812	c.1812C>T	c.(1810-1812)aaC>aaT	p.N604N	PCDHA2_ENST00000378132.1_Silent_p.N604N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.N604N|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1												p.N604N(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCTACAACGCGTGGCTTT	0.657													False	0	False	5:140176361	0	T	140176361	C	T	140176361	2	4	86	1	0	0	0	0	0	0	0	1	11592	535	19	1		1	PCDHA2	5	140176361	Silent	SNP	C	TCGA-IB-7647-01A-11D-2154-08		140176361	40738899	24	7478											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	86	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-7647-01A-11D-2154-08		7393450	163721617	25	7479											
LMBRD1	55788	broad.mit.edu	37	chr6	70428941	70428941	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcgcttctagtgccttttatCagatttaaaggtaacgcaga	9	8	2	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:70428941C>T	ENST00000370577.3	-	8	898	c.669G>A	c.(667-669)ctG>ctA	p.L223L	LMBRD1_ENST00000370570.1_Silent_p.L150L	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	223					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TGCCTTTTATCAGATTTAAAG	0.313													False	0	False	6:70428941	0	T	70428941	C	T	70428941	2	4	86	1	0	0	0	0	0	0	0	1	8895	813	29	2		2	LMBRD1	6	70428941	Silent	SNP	C	TCGA-IB-7647-01A-11D-2154-08	63035491	70428941	100686126	26	7480											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	86	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-IB-7647-01A-11D-2154-08		44153778	114984885	27	7481											
PPP1R9A	55607	broad.mit.edu	37	chr7	94740662	94740662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtatgaacttgaaaaacGtgtagaaaagctggaacttt	10	4	0	4			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:94740662G>A	ENST00000289495.5	+	2	1703	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R496H|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R496H|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.R496H|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R496H|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R496H	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	496	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTGAAAAACGTGTAGAAAAG	0.383										HNSCC(28;0.073)			False	0	False	7:94740662	0	A	94740662	G	A	94740662	3	1	86	1	0	0	0	0	1	0	0	0	12452	1145	40	1	1493	1	PPP1R9A	7	94740662	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	50586884	94740662	64398001	28	7482											
ZNF777	27153	broad.mit.edu	37	chr7	149129516	149129516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgggacgcggcttgagcGcgtgcttggggttgaacgtg	18	8	0	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:149129516G>A	ENST00000247930.4	-	6	2170	c.1847C>T	c.(1846-1848)gCg>gTg	p.A616V		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGGCTTGAGCGCGTGCTTGGG	0.672													False	0	False	7:149129516	0	A	149129516	G	A	149129516	3	1	86	1	0	0	0	0	1	0	0	0	18232	1087	38	1	652	1	ZNF777	7	149129516	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	54388854	149129516	10009147	29	7483											
LRRCC1	85444	broad.mit.edu	37	chr8	86027446	86027446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattcatcacagctgcagtGcctagaaggtcttttggata	9	8	3	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:86027446G>A	ENST00000414626.2	+	4	1485	c.596G>A	c.(595-597)tGc>tAc	p.C199Y	LRRCC1_ENST00000360375.3_Missense_Mutation_p.C219Y			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	219	LRRCT.				cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CAGCTGCAGTGCCTAGAAGGT	0.323													False	0	False	8:86027446	0	A	86027446	G	A	86027446	3	1	86	1	0	0	0	0	1	0	0	0	9088	1319	46	2	674	2	LRRCC1	8	86027446	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08		86027446	60336576	30	7484											
ADCY8	114	broad.mit.edu	37	chr8	132051844	132051844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacccaggtgaccacgcCgctgtactgcaggtacgtgt	13	14	0	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:132051844C>T	ENST00000286355.5	-	1	2828	c.736G>A	c.(736-738)Ggc>Agc	p.G246S	ADCY8_ENST00000377928.3_Missense_Mutation_p.G246S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	246					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTGACCACGCCGCTGTACTGC	0.637										HNSCC(32;0.087)			False	0	False	8:132051844	0	T	132051844	C	T	132051844	3	4	86	1	0	0	0	0	1	0	0	0	300	652	23	1	3091	1	ADCY8	8	132051844	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	46024398	132051844	14312178	31	7485											
TRAPPC9	83696	broad.mit.edu	37	chr8	141285777	141285777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttagtggtgagaactttcGaggtgacctccagtttctcc	10	10	1	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:141285777G>A	ENST00000389328.4	-	15	2566	c.2552C>T	c.(2551-2553)tCg>tTg	p.S851L	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S744L|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S753L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	753					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GAGAACTTTCGAGGTGACCTC	0.363													False	0	False	8:141285777	0	A	141285777	G	A	141285777	3	1	86	1	0	0	0	0	1	0	0	0	16548	1059	37	1	1224	1	TRAPPC9	8	141285777	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	9233933	141285777	5078245	32	7486											
TSTA3	7264	broad.mit.edu	37	chr8	144698284	144698284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accctcacttacccagaagtCcaaattgtatttgatattcc	4	12	1	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:144698284C>T	ENST00000425753.2	-	3	356	c.253G>A	c.(253-255)Gac>Aac	p.D85N	TSTA3_ENST00000529064.1_Missense_Mutation_p.D85N	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	85					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	ACCCAGAAGTCCAAATTGTAT	0.562													False	0	False	8:144698284	0	T	144698284	C	T	144698284	3	4	86	1	0	0	0	0	1	0	0	0	16757	855	30	2	748	2	TSTA3	8	144698284	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	3412507	144698284	1665738	33	7487											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777015	18777015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtcacggtggcccccttcGgctatctcaagatccaccgc	9	17	2	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:18777015G>A	ENST00000380548.4	+	19	3127	c.2788G>A	c.(2788-2790)Ggc>Agc	p.G930S		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	930	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGCCCCCTTCGGCTATCTCAA	0.667													False	0	False	9:18777015	0	A	18777015	G	A	18777015	3	1	86	1	0	0	0	0	1	0	0	0	274	1116	39	1	2866	1	ADAMTSL1	9	18777015	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08		18777015	122436416	34	7488											
FPGS	2356	broad.mit.edu	37	chr9	130575756	130575756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccccaaagggcctcctcaCccaccctgtggctcacagtg	8	19	2	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:130575756C>T	ENST00000373225.3	+	15	1696	c.1487C>T	c.(1486-1488)aCc>aTc	p.T496I	FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.T520I|FPGS_ENST00000373247.2_Missense_Mutation_p.T546I	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	546					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GGCCTCCTCACCCACCCTGTG	0.607													False	0	True	9:130575756	0	T	130575756	C	T	130575756	3	4	86	1	0	0	0	0	1	0	0	0	6078	507	18	2	1695	2	FPGS	9	130575756	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	111798741	130575756	10637675	35	7489											
DDX31	64794	broad.mit.edu	37	chr9	135537950	135537950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagaaaacattttttgtgCgttccccttaaaagtcctct	7	9	1	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:135537950C>T	ENST00000372159.3	-	2	674	c.523G>A	c.(523-525)Gca>Aca	p.A175T	DDX31_ENST00000372153.1_Missense_Mutation_p.A175T|DDX31_ENST00000438527.3_Missense_Mutation_p.A46T|DDX31_ENST00000544003.1_Missense_Mutation_p.A79T|DDX31_ENST00000310532.2_Missense_Mutation_p.A175T|DDX31_ENST00000480876.1_5'UTR	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	175						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ATTTTTTGTGCGTTCCCCTTA	0.428													False	0	False	9:135537950	0	T	135537950	C	T	135537950	3	4	86	1	0	0	0	0	1	0	0	0	4381	768	27	1	2115	1	DDX31	9	135537950	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	4962194	135537950	5675481	36	7490											
CUBN	8029	broad.mit.edu	37	chr10	16970247	16970247	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccagtagaccggatgggCccagggatctctctgccaca	11	14	3	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:16970247C>A	ENST00000377833.4	-	41	6245	c.6180G>T	c.(6178-6180)ggG>ggT	p.G2060G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2060	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCGGATGGGCCCAGGGATCT	0.478													False	0	True	10:16970247	0	A	16970247	C	A	16970247	2	1	86	1	0	0	0	0	0	0	0	1	4076	726	26	3		3	CUBN	10	16970247	Silent	SNP	C	TCGA-IB-7647-01A-11D-2154-08		16970247	118564500	37	7491											
ST8SIA6	338596	broad.mit.edu	37	chr10	17363212	17363212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtcttgctttagactcttCgagcgtgtagtatactttga	9	7	2	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:17363212C>T	ENST00000377602.4	-	8	936	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	288					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTAGACTCTTCGAGCGTGTAG	0.443													False	0	False	10:17363212	0	T	17363212	C	T	17363212	3	4	86	1	0	0	0	0	1	0	0	0	15318	893	31	1	338	1	ST8SIA6	10	17363212	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	392965	17363212	118171535	38	7492											
ANK3	288	broad.mit.edu	37	chr10	61847990	61847990	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctgtggtgctgctcagaattCcaccttcaggaccaatctgg	10	12	3	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:61847990C>G	ENST00000280772.2	-	29	3646	c.3455G>C	c.(3454-3456)gGa>gCa	p.G1152A	ANK3_ENST00000503366.1_Missense_Mutation_p.G1153A|ANK3_ENST00000355288.2_Missense_Mutation_p.G286A|ANK3_ENST00000373827.2_Missense_Mutation_p.G1146A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTCAGAATTCCACCTTCAGG	0.468													False	0	False	10:61847990	0	G	61847990	C	G	61847990	3	3	86	1	0	0	0	0	1	0	0	0	622	855	30	5	10051	5	ANK3	10	61847990	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	44484778	61847990	73686757	39	7493											
SEC31B	25956	broad.mit.edu	37	chr10	102262171	102262171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgactgatgaagactaggCgggggcaaggctgtggcacc	16	9	0	4			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:102262171C>T	ENST00000370345.3	-	11	1347	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H	SEC31B_ENST00000451524.1_Missense_Mutation_p.R417H	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	417					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GAAGACTAGGCGGGGGCAAGG	0.527													False	0	True	10:102262171	0	T	102262171	C	T	102262171	3	4	86	1	0	0	0	0	1	0	0	0	14080	768	27	1	2353	1	SEC31B	10	102262171	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	40414181	102262171	33272576	40	7494											
MUC6	4588	broad.mit.edu	37	chr11	1031906	1031906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatgctcccgtctgggcctCgccgcagctggacactgaag	13	14	1	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:1031906C>T	ENST00000421673.2	-	3	313	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	88	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCTGGGCCTCGCCGCAGCTG	0.622													False	0	False	11:1031906	0	T	1031906	C	T	1031906	3	4	86	1	0	0	0	0	1	0	0	0	10047	884	31	1	7180	1	MUC6	11	1031906	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08		1031906	133974610	41	7495											
PGAP2	27315	broad.mit.edu	37	chr11	3838588	3838588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtgctgcttaggccacGccctgcaggatgttctctgc	11	15	1	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:3838588G>A	ENST00000278243.4	+	3	372	c.171G>A	c.(169-171)acG>acA	p.T57T	PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000396991.2_Silent_p.T57T|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000493547.2_Intron	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	57					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CTTAGGCCACGCCCTGCAGGA	0.592													False	0	True	11:3838588	0	A	3838588	G	A	3838588	2	1	86	1	0	0	0	0	0	0	0	1	11847	1074	38	1		1	PGAP2	11	3838588	Silent	SNP	G	TCGA-IB-7647-01A-11D-2154-08	2806682	3838588	131167928	42	7496											
LDLRAD3	143458	broad.mit.edu	37	chr11	36250849	36250849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagcagcctcctgagcGtggaagacaccagccacagc	11	16	0	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:36250849G>A	ENST00000315571.5	+	6	961	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.V265M|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.V304M	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	314						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCTCCTGAGCGTGGAAGACAC	0.662													False	0	False	11:36250849	0	A	36250849	G	A	36250849	3	1	86	1	0	0	0	0	1	0	0	0	8758	1145	40	1	962	1	LDLRAD3	11	36250849	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	32412261	36250849	98755667	43	7497											
LRRC4C	57689	broad.mit.edu	37	chr11	40137319	40137319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcccctaagtctagtcggCgcaaagaaggaattctgtta	9	9	2	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:40137319C>T	ENST00000278198.2	-	2	2487	c.524G>A	c.(523-525)cGc>cAc	p.R175H	LRRC4C_ENST00000530763.1_Missense_Mutation_p.R175H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R175H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R175H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	175					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTCTAGTCGGCGCAAAGAAGG	0.428													False	0	False	11:40137319	0	T	40137319	C	T	40137319	3	4	86	1	0	0	0	0	1	0	0	0	9070	768	27	1	1402	1	LRRC4C	11	40137319	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	3886470	40137319	94869197	44	7498											
KCNA5	3741	broad.mit.edu	37	chr12	5153781	5153781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccaagcgcctgcgctacttCgaccccctgaggaacgagta	11	15	0	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:5153781C>A	ENST00000252321.3	+	1	697	c.468C>A	c.(466-468)ttC>ttA	p.F156L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	156						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGCGCTACTTCGACCCCCTGA	0.652													False	0	False	12:5153781	0	A	5153781	C	A	5153781	3	1	86	1	0	0	0	0	1	0	0	0	8056	883	31	3	470	3	KCNA5	12	5153781	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08		5153781	128698114	45	7499											
TAS2R31	259290	broad.mit.edu	37	chr12	11183165	11183165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacatgaagacaggtttgTtttccagactcccaaaactc	7	10	0	4			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:11183165T>C	ENST00000390675.2	-	1	841	c.770A>G	c.(769-771)aAc>aGc	p.N257S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	257					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						GACAGGTTTGTTTTCCAGACT	0.383													False	0	True	12:11183165	0	C	11183165	T	C	11183165	3	2	86	1	0	0	0	0	1	0	0	0	15656	1725	60	4	163	4	TAS2R31	12	11183165	Missense_Mutation	SNP	T	TCGA-IB-7647-01A-11D-2154-08	6029384	11183165	122668730	46	7500											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	86	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	14215119	25398284	108453611	47	7501											
NELL2	4753	broad.mit.edu	37	chr12	44917143	44917143	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccattgtgcttaacttttccAtcatggatgcagtcccctgt	7	12	1	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:44917143A>T	ENST00000429094.2	-	17	2433	c.1929T>A	c.(1927-1929)gaT>gaA	p.D643E	NELL2_ENST00000551601.1_Missense_Mutation_p.D595E|NELL2_ENST00000333837.4_Missense_Mutation_p.D666E|NELL2_ENST00000437801.2_Missense_Mutation_p.D693E|NELL2_ENST00000452445.2_Missense_Mutation_p.D643E|NELL2_ENST00000395487.2_Missense_Mutation_p.D642E|NELL2_ENST00000549027.1_Missense_Mutation_p.D642E	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	643	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TAACTTTTCCATCATGGATGC	0.413													False	0	False	12:44917143	0	T	44917143	A	T	44917143	3	4	86	1	0	0	0	0	1	0	0	0	10402	214	8	5	537	5	NELL2	12	44917143	Missense_Mutation	SNP	A	TCGA-IB-7647-01A-11D-2154-08	19518859	44917143	88934752	48	7502											
TUBA1A	7846	broad.mit.edu	37	chr12	49580155	49580155	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaatggtgtagtgccctcGggcatagttattggcagcat	13	9	0	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:49580155G>A	ENST00000301071.7	-	3	657	c.313C>T	c.(313-315)Cga>Tga	p.R105*	TUBA1A_ENST00000295766.5_Nonsense_Mutation_p.R105*|TUBA1A_ENST00000550767.1_Nonsense_Mutation_p.R70*|TUBA1A_ENST00000546918.1_Silent_p.P155P	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	105					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TAGTGCCCTCGGGCATAGTTA	0.468													False	0	True	12:49580155	0	A	49580155	G	A	49580155	4	1	86	1	0	0	0	0	0	1	0	0	16827	1124	39	1	1050	1	TUBA1A	12	49580155	Nonsense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	4663012	49580155	84271740	49	7503											
CAPS2	84698	broad.mit.edu	37	chr12	75687069	75687069	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatcaatatttgtgattcGgagtttaagtaatgtgtttt	9	2	1	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:75687069G>A	ENST00000393284.3	-	12	1085	c.484C>T	c.(484-486)Cga>Tga	p.R162*	CAPS2_ENST00000409799.1_Nonsense_Mutation_p.R312*|CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409445.3_Nonsense_Mutation_p.R394*|CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000549953.1_RNA			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	394							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TTTGTGATTCGGAGTTTAAGT	0.318													False	0	False	12:75687069	0	A	75687069	G	A	75687069	4	1	86	1	0	0	0	0	0	1	0	0	2658	1124	39	1	517	1	CAPS2	12	75687069	Nonsense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	26106914	75687069	58164826	50	7504											
TBX5	6910	broad.mit.edu	37	chr12	114836449	114836449	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacgagctgcctcatccaatGcgccccggtggcgggggagt	16	13	1	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:114836449G>T	ENST00000310346.4	-	5	1105	c.439C>A	c.(439-441)Cat>Aat	p.H147N	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Missense_Mutation_p.H97N|TBX5_ENST00000405440.2_Missense_Mutation_p.H147N|TBX5_ENST00000526441.1_Missense_Mutation_p.H147N	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	147					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTCATCCAATGCGCCCCGGTG	0.612													False	0	False	12:114836449	0	T	114836449	G	T	114836449	3	4	86	1	0	0	0	0	1	0	0	0	15743	1319	46	3	1204	3	TBX5	12	114836449	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	39149380	114836449	19015446	51	7505											
EXOSC8	11340	broad.mit.edu	37	chr13	37576427	37576427	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaccgtggaacctctggAgtattacaggagatttctgg	12	8	2	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:37576427A>G	ENST00000389704.3	+	2	300	c.35A>G	c.(34-36)gAg>gGg	p.E12G	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	12					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		GAACCTCTGGAGTATTACAGG	0.323													False	0	False	13:37576427	0	G	37576427	A	G	37576427	3	3	86	1	0	0	0	0	1	0	0	0	5353	304	11	4	41	4	EXOSC8	13	37576427	Missense_Mutation	SNP	A	TCGA-IB-7647-01A-11D-2154-08		37576427	77593451	52	7506											
AKAP11	11215	broad.mit.edu	37	chr13	42873717	42873717	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttcagagccttggacccaaAggagtttctataggtcatct	9	9	4	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:42873717A>T	ENST00000025301.2	+	8	1010	c.835A>T	c.(835-837)Agg>Tgg	p.R279W		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	279	Ser-rich.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTGGACCCAAAGGAGTTTCTA	0.393													False	0	True	13:42873717	0	T	42873717	A	T	42873717	3	4	86	1	0	0	0	0	1	0	0	0	447	63	3	5	857	5	AKAP11	13	42873717	Missense_Mutation	SNP	A	TCGA-IB-7647-01A-11D-2154-08	5297290	42873717	72296161	53	7507											
TSC22D1	8848	broad.mit.edu	37	chr13	45147422	45147422	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgacattcccccactgtcaCcactgatagtctgaggtaag	8	13	2	3			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:45147422C>A	ENST00000458659.2	-	1	3279	c.2789G>T	c.(2788-2790)gGt>gTt	p.G930V	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000460842.1_5'UTR	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	930					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCCACTGTCACCACTGATAGT	0.537													False	0	False	13:45147422	0	A	45147422	C	A	45147422	3	1	86	1	0	0	0	0	1	0	0	0	16690	507	18	3	573	3	TSC22D1	13	45147422	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	2273705	45147422	70022456	54	7508											
KLHL1	57626	broad.mit.edu	37	chr13	70281775	70281775	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgtccactcattagtTtgtgggtcataggattccat	9	9	2	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:70281775T>C	ENST00000377844.4	-	10	2928	c.2169A>G	c.(2167-2169)caA>caG	p.Q723Q	KLHL1_ENST00000545028.1_Silent_p.Q530Q	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	723					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACTCATTAGTTTGTGGGTCAT	0.413													False	0	True	13:70281775	0	C	70281775	T	C	70281775	2	2	86	1	0	0	0	0	0	0	0	1	8415	1838	64	4		4	KLHL1	13	70281775	Silent	SNP	T	TCGA-IB-7647-01A-11D-2154-08	25134353	70281775	44888103	55	7509											
LRFN5	145581	broad.mit.edu	37	chr14	42356419	42356419	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctcccatttgcacaagatGactcggttagatgtgacatc	8	10	1	4			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr14:42356419G>A	ENST00000554171.1	+	5	3023	c.591G>A	c.(589-591)atG>atA	p.M197I	LRFN5_ENST00000554120.1_Missense_Mutation_p.M197I|LRFN5_ENST00000298119.4_Missense_Mutation_p.M197I			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	197						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCACAAGATGACTCGGTTAG	0.443										HNSCC(30;0.082)			False	0	False	14:42356419	0	A	42356419	G	A	42356419	3	1	86	1	0	0	0	0	1	0	0	0	9003	1290	45	2	593	2	LRFN5	14	42356419	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08		42356419	64993121	56	7510											
ARID4A	5926	broad.mit.edu	37	chr14	58813778	58813781	+	Frame_Shift_Del	DEL	TTGG	TTGG	-													gaagcaaatttatatggaccTtggcattcctattttgaatt							TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	TTGG	TTGG	-	-	TTGG	TTGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr14:58813778_58813781delTTGG	ENST00000355431.3	+	14	1488_1491	c.1115_1118delTTGG	c.(1114-1119)cttggcfs	p.LG372fs	ARID4A_ENST00000431317.2_Frame_Shift_Del_p.LG372fs|ARID4A_ENST00000348476.3_Frame_Shift_Del_p.LG372fs|ARID4A_ENST00000395168.3_Frame_Shift_Del_p.LG372fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	372	ARID.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TATATGGACCTTGGCATTCCTATT	0.27													False	1	False	14:58813778	0	-	58813781	TTGG	-	58813778	7	5	86	1	0	1	0	1	0	0	0	0	921	1609	56	0	1165	0	ARID4A	14	58813778	Frame_Shift_Del	DEL	TTGG	TCGA-IB-7647-01A-11D-2154-08	16457359	58813778	48535762	57	7511											
MAGEL2	54551	broad.mit.edu	37	chr15	23890566	23890566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccggtgtggcaggcaggTttttccaggcagctggcagg	16	10	1	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:23890566T>C	ENST00000532292.1	-	1	609	c.515A>G	c.(514-516)aAc>aGc	p.N172S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGCAGGCAGGTTTTTCCAGGC	0.587													False	0	True	15:23890566	0	C	23890566	T	C	23890566	3	2	86	1	0	0	0	0	1	0	0	0	9256	1725	60	4	1429	4	MAGEL2	15	23890566	Missense_Mutation	SNP	T	TCGA-IB-7647-01A-11D-2154-08		23890566	78640826	58	7512											
GDE1	51573	broad.mit.edu	37	chr16	19528371	19528371	+	Silent	SNP	A	A	T													gctgcaggattcagcttcctAatttgttcaaatgtcaaatc							TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:19528371A>T	ENST00000353258.3	-	2	582	c.402T>A	c.(400-402)atT>atA	p.I134I		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	134	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						TCAGCTTCCTAATTTGTTCAA	0.408													False	0	False	16:19528371	0	T	19528371	A	T	19528371	2	4	86	1	0	0	0	0	0	0	0	1	6354	358	13	5		5	GDE1	16	19528371	Silent	SNP	A	TCGA-IB-7647-01A-11D-2154-08		19528371	70826382	59	7513	130	2									
GDE1	51573	broad.mit.edu	37	chr16	19528372	19528372	+	Missense_Mutation	SNP	A	A	T													ctgcaggattcagcttcctaAtttgttcaaatgtcaaatca							TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:19528372A>T	ENST00000353258.3	-	2	581	c.401T>A	c.(400-402)aTt>aAt	p.I134N		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	134	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						CAGCTTCCTAATTTGTTCAAA	0.408													False	0	True	16:19528372	0	T	19528372	A	T	19528372	3	4	86	1	0	0	0	0	1	0	0	0	6354	101	4	5	614	5	GDE1	16	19528372	Missense_Mutation	SNP	A	TCGA-IB-7647-01A-11D-2154-08	1	19528372	70826381	60	7514	130	2									
UQCRC2	7385	broad.mit.edu	37	chr16	21974207	21974207	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcagaatccgcagactcGtaagtacatttccagatcac	6	12	2	3			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:21974207G>T	ENST00000268379.4	+	6	1278		c.e6+1		UQCRC2_ENST00000561553.1_Splice_Site	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II						aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CCGCAGACTCGTAAGTACATT	0.363													False	0	False	16:21974207	0	T	21974207	G	T	21974207	5	4	86	1	0	0	0	0	0	0	1	0	17104	1159	40	3	537	3	UQCRC2	16	21974207	Splice_Site	SNP	G	TCGA-IB-7647-01A-11D-2154-08	2445835	21974207	68380546	61	7515											
AQP8	343	broad.mit.edu	37	chr16	25232853	25232853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctggtgatgctcctcccGtactgggtctcacagctgct	10	14	1	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:25232853G>A	ENST00000219660.5	+	3	461	c.336G>A	c.(334-336)ccG>ccA	p.P112P	AQP8_ENST00000566125.1_Silent_p.P106P	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	112					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TGCTCCTCCCGTACTGGGTCT	0.627													False	0	True	16:25232853	0	A	25232853	G	A	25232853	2	1	86	1	0	0	0	0	0	0	0	1	834	1132	40	1		1	AQP8	16	25232853	Silent	SNP	G	TCGA-IB-7647-01A-11D-2154-08	3258646	25232853	65121900	62	7516											
ABCC11	85320	broad.mit.edu	37	chr16	48209224	48209224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcactgagagcttggaccGcaagtcctccaggccgatgc	12	13	1	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:48209224G>A	ENST00000394747.1	-	25	3992	c.3643C>T	c.(3643-3645)Cgg>Tgg	p.R1215W	ABCC11_ENST00000353782.5_Missense_Mutation_p.R1215W|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1215W|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1215W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1215	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGCTTGGACCGCAAGTCCTCC	0.622													False	0	False	16:48209224	0	A	48209224	G	A	48209224	3	1	86	1	0	0	0	0	1	0	0	0	51	1086	38	1	525	1	ABCC11	16	48209224	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	22976371	48209224	42145529	63	7517											
NLRC5	84166	broad.mit.edu	37	chr16	57060803	57060803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcccactgacctgcaccGacctggccaccctgaccaac	6	19	0	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:57060803G>A	ENST00000436936.1	+	6	2173	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	NLRC5_ENST00000262510.6_Missense_Mutation_p.D650N|NLRC5_ENST00000308149.7_Missense_Mutation_p.D650N|NLRC5_ENST00000539144.1_Missense_Mutation_p.D650N			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	650					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GACCTGCACCGACCTGGCCAC	0.602													False	0	False	16:57060803	0	A	57060803	G	A	57060803	3	1	86	1	0	0	0	0	1	0	0	0	10538	1058	37	1	1962	1	NLRC5	16	57060803	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	8851579	57060803	33293950	64	7518											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840990	1840990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatggctgcaaagttgtgCgcctggcagctgaccgtcat	15	10	1	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:1840990C>T	ENST00000331238.6	-	2	605	c.126G>A	c.(124-126)gcG>gcA	p.A42A		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1		LRRNT.				axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CAAAGTTGTGCGCCTGGCAGC	0.672													False	0	False	17:1840990	0	T	1840990	C	T	1840990	2	4	86	1	0	0	0	0	0	0	0	1	13810	755	27	1		1	RTN4RL1	17	1840990	Silent	SNP	C	TCGA-IB-7647-01A-11D-2154-08		1840990	79354220	65	7519											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs121912651		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	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)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	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)			False	0	False	17:7577539	0	A	7577539	G	A	7577539	3	1	86	1	0	0	0	0	1	0	0	0	16464	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	5736549	7577539	73617671	66	7520											
CDK12	51755	broad.mit.edu	37	chr17	37687333	37687333	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagggtccccttagcgttaCacccggtggtcgggcaacca	12	15	0	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:37687333C>G	ENST00000447079.4	+	14	4270	c.4237C>G	c.(4237-4239)Cac>Gac	p.H1413D	CDK12_ENST00000430627.2_Missense_Mutation_p.H1404D	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1413					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTTAGCGTTACACCCGGTGGT	0.582			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			False	0	False	17:37687333	0	G	37687333	C	G	37687333	3	3	86	1	0	0	0	0	1	0	0	0	3151	478	17	5	4291	5	CDK12	17	37687333	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	30109794	37687333	43507877	67	7521											
KIF18B	146909	broad.mit.edu	37	chr17	43011628	43011628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggccaaggcattgaggacGttgatgagcgccagcagaga	15	9	0	4			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:43011628G>A	ENST00000587309.1	-	6	881	c.858C>T	c.(856-858)aaC>aaT	p.N286N	KIF18B_ENST00000339151.4_Silent_p.N286N|KIF18B_ENST00000438933.2_Silent_p.N286N|KIF18B_ENST00000593135.1_Silent_p.N286N|KIF18B_ENST00000590129.1_Silent_p.N295N	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CATTGAGGACGTTGATGAGCG	0.617													False	0	False	17:43011628	0	A	43011628	G	A	43011628	2	1	86	1	0	0	0	0	0	0	0	1	8331	1136	40	1		1	KIF18B	17	43011628	Silent	SNP	G	TCGA-IB-7647-01A-11D-2154-08	5324295	43011628	38183582	68	7522											
CACNA1G	8913	broad.mit.edu	37	chr17	48650006	48650006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacgcgagaacggcatgCggtcctgcagaagcgtgccc	14	14	0	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:48650006C>T	ENST00000352832.5	+	6	1210	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	CACNA1G_ENST00000514181.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R280W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R280W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R280W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R280W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R280W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R280W	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	280					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAACGGCATGCGGTCCTGCAG	0.647													False	0	False	17:48650006	0	T	48650006	C	T	48650006	3	4	86	1	0	0	0	0	1	0	0	0	2564	759	27	1	860	1	CACNA1G	17	48650006	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	5638378	48650006	32545204	69	7523											
LUC7L3	51747	broad.mit.edu	37	chr17	48821167	48821167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaactgctaaggtccacaaCgtcggtgagtaaaccttatt	9	9	0	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:48821167C>T	ENST00000505658.1	+	6	716	c.527C>T	c.(526-528)aCg>aTg	p.T176M	LUC7L3_ENST00000544170.1_Missense_Mutation_p.T100M|LUC7L3_ENST00000393227.2_Missense_Mutation_p.T176M|LUC7L3_ENST00000240304.1_Missense_Mutation_p.T176M			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	176					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGGTCCACAACGTCGGTGAGT	0.368													False	0	False	17:48821167	0	T	48821167	C	T	48821167	3	4	86	1	0	0	0	0	1	0	0	0	9146	536	19	1	549	1	LUC7L3	17	48821167	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	171161	48821167	32374043	70	7524											
RAB40B	10966	broad.mit.edu	37	chr17	80615798	80615798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctctggggggggcggaCgagcttcactttgcggaggc	21	9	2	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:80615798C>T	ENST00000571995.1	-	6	909	c.778G>A	c.(778-780)Gtc>Atc	p.V260I	RAB40B_ENST00000269347.6_Missense_Mutation_p.V81I|RAB40B_ENST00000538809.2_3'UTR	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	260					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGGGGGCGGACGAGCTTCACT	0.572													False	0	False	17:80615798	0	T	80615798	C	T	80615798	3	4	86	1	0	0	0	0	1	0	0	0	13020	536	19	1	62	1	RAB40B	17	80615798	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	31794631	80615798	579412	71	7525											
MUC16	94025	broad.mit.edu	37	chr19	9074001	9074001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggtaagaactgaagtcGcagaaacaggagaggatgta	14	5	0	5			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:9074001G>A	ENST00000397910.4	-	3	13648	c.13445C>T	c.(13444-13446)gCg>gTg	p.A4482V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4484	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTGAAGTCGCAGAAACAGG	0.463													False	0	False	19:9074001	0	A	9074001	G	A	9074001	3	1	86	1	0	0	0	0	1	0	0	0	10040	1087	38	1	30406	1	MUC16	19	9074001	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08		9074001	50054982	72	7526											
TECR	9524	broad.mit.edu	37	chr19	14674472	14674472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctgttctccccgcagatCcgcagtggtaccccgcccgc	10	20	1	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:14674472C>T	ENST00000436007.2	+	5	290	c.166C>T	c.(166-168)Ccg>Tcg	p.P56S	TECR_ENST00000596164.1_3'UTR|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000215567.5_Missense_Mutation_p.P41S|TECR_ENST00000596073.1_5'UTR			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	41					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CCCCGCAGATCCGCAGTGGTA	0.697													False	0	False	19:14674472	0	T	14674472	C	T	14674472	3	4	86	1	0	0	0	0	1	0	0	0	15827	855	30	2	135	2	TECR	19	14674472	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	5600471	14674472	44454511	73	7527											
NOTCH3	4854	broad.mit.edu	37	chr19	15271507	15271507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcttgggggtaacttccGgctggggccccagctgggtc	16	13	1	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:15271507G>A	ENST00000263388.2	-	33	7007	c.6932C>T	c.(6931-6933)cCg>cTg	p.P2311L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2311					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGTAACTTCCGGCTGGGGCCC	0.627													False	0	False	19:15271507	0	A	15271507	G	A	15271507	3	1	86	1	0	0	0	0	1	0	0	0	10618	1116	39	1	37	1	NOTCH3	19	15271507	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	597035	15271507	43857476	74	7528											
TSSK6	83983	broad.mit.edu	37	chr19	19625658	19625658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcccatgctccacacatcGtacttcttggggtcgtaggg	11	13	1	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:19625658G>A	ENST00000360913.3	-	1	1180	c.579C>T	c.(577-579)taC>taT	p.Y193Y	TSSK6_ENST00000585580.3_Silent_p.Y193Y			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	193	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TCCACACATCGTACTTCTTGG	0.662													False	0	False	19:19625658	0	A	19625658	G	A	19625658	2	1	86	1	0	0	0	0	0	0	0	1	16755	1140	40	1		1	TSSK6	19	19625658	Silent	SNP	G	TCGA-IB-7647-01A-11D-2154-08	4354151	19625658	39503325	75	7529											
SBSN	374897	broad.mit.edu	37	chr19	36018251	36018251	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccccctggccaaatctcccTgcctcatttccggcctgccc	7	21	2	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:36018251T>A	ENST00000452271.2	-	1	961	c.933A>T	c.(931-933)gcA>gcT	p.A311A	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	184						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAAATCTCCCTGCCTCATTTC	0.657													False	0	True	19:36018251	0	A	36018251	T	A	36018251	2	1	86	1	0	0	0	0	0	0	0	1	13944	1567	55	5		5	SBSN	19	36018251	Silent	SNP	T	TCGA-IB-7647-01A-11D-2154-08	16392593	36018251	23110732	76	7530											
RYR1	6261	broad.mit.edu	37	chr19	38976522	38976522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcacgcctgagacccgcGccatcacgctcttccctcct	6	22	3	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:38976522G>A	ENST00000355481.4	+	34	5358	c.5227G>A	c.(5227-5229)Gcc>Acc	p.A1743T	RYR1_ENST00000359596.3_Missense_Mutation_p.A1743T|RYR1_ENST00000360985.3_Missense_Mutation_p.A1743T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1743	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGAGACCCGCGCCATCACGCT	0.622													False	0	False	19:38976522	0	A	38976522	G	A	38976522	3	1	86	1	0	0	0	0	1	0	0	0	13847	1087	38	1	5361	1	RYR1	19	38976522	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	2958271	38976522	20152461	77	7531											
BCKDHA	593	broad.mit.edu	37	chr19	41928085	41928085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcggtgggggcggcgtaCgcagccaagcgggccaatgc	19	12	0	0	rs151227241		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:41928085C>T	ENST00000269980.2	+	6	1031	c.663C>T	c.(661-663)taC>taT	p.Y221Y	BCKDHA_ENST00000457836.2_Silent_p.Y199Y|BCKDHA_ENST00000595085.1_Silent_p.Y255Y|CTC-435M10.3_ENST00000540732.1_Silent_p.Y255Y|BCKDHA_ENST00000535632.1_3'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	221					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGGCGGCGTACGCAGCCAAGC	0.637													False	0	False	19:41928085	0	T	41928085	C	T	41928085	2	4	86	1	0	0	0	0	0	0	0	1	1363	547	19	1		1	BCKDHA	19	41928085	Silent	SNP	C	TCGA-IB-7647-01A-11D-2154-08	2951563	41928085	17200898	78	7532											
KLC3	147700	broad.mit.edu	37	chr19	45853603	45853603	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	actcccttctccgcaggcctCagcctacctgaaacagaaca	6	17	2	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45853603C>G	ENST00000470402.1	+	8	1290	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*	KLC3_ENST00000585434.1_Nonsense_Mutation_p.S382*|ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000391946.2_Nonsense_Mutation_p.S383*			Q6P597	KLC3_HUMAN	kinesin light chain 3	383						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCGCAGGCCTCAGCCTACCTG	0.532													False	0	False	19:45853603	0	G	45853603	C	G	45853603	4	3	86	1	0	0	0	0	0	1	0	0	8385	838	29	5	1178	5	KLC3	19	45853603	Nonsense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	3925518	45853603	13275380	79	7533			1	12		4	4	1377	C		1.097234e-08
KLC3	147700	broad.mit.edu	37	chr19	45853629	45853629	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acctgaaacagaacaagtatCaacaagcggaagagctgtac	9	9	1	3			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45853629C>T	ENST00000470402.1	+	8	1316	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*	KLC3_ENST00000585434.1_Nonsense_Mutation_p.Q391*|ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000391946.2_Nonsense_Mutation_p.Q392*			Q6P597	KLC3_HUMAN	kinesin light chain 3	392						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GAACAAGTATCAACAAGCGGA	0.567													False	0	False	19:45853629	0	T	45853629	C	T	45853629	4	4	86	1	0	0	0	0	0	1	0	0	8385	827	29	2	1204	2	KLC3	19	45853629	Nonsense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	26	45853629	13275354	80	7534			1	12		4	4	1377	C		1.097234e-08
ERCC2	2068	broad.mit.edu	37	chr19	45854888	45854888	+	Nonstop_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atggccccacccgccccactCagagctgctgagcaatctgc	9	18	2	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45854888C>G	ENST00000391945.4	-	23	2359	c.2282G>C	c.(2281-2283)tGa>tCa	p.*761S	ERCC2_ENST00000391944.3_Nonstop_Mutation_p.*683S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	0					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCGCCCCACTCAGAGCTGCTG	0.592			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	19:45854888	0	G	45854888	C	G	45854888	4	3	86	1	0	0	0	0	0	0	0	0	5245	837	29	5	4	5	ERCC2	19	45854888	Nonstop_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	1259	45854888	13274095	81	7535			1	12		4	4	1377	C		1.097234e-08
ERCC2	2068	broad.mit.edu	37	chr19	45854979	45854979	+	Splice_Site	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggacaggcccagctgatcctCctgcagagaacagaggaaag	13	11	0	3			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45854979C>G	ENST00000391945.4	-	23	2268	c.2191G>C	c.(2191-2193)Gag>Cag	p.E731Q	ERCC2_ENST00000391944.3_Splice_Site_p.E653Q	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	731					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AGCTGATCCTCCTGCAGAGAA	0.627			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	19:45854979	0	G	45854979	C	G	45854979	5	3	86	1	0	0	0	0	0	0	1	0	5245	869	30	5	95	5	ERCC2	19	45854979	Splice_Site	SNP	C	TCGA-IB-7647-01A-11D-2154-08	91	45854979	13274004	82	7536			1	12		4	4	1377	C		1.097234e-08
ZNF671	79891	broad.mit.edu	37	chr19	58232832	58232832	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggctggttctggtgctggtCaaagtctgtactgaaccaga	14	8	3	2			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:58232832C>T	ENST00000317398.6	-	4	717	c.622G>A	c.(622-624)Gac>Aac	p.D208N	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.D110N|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGTGCTGGTCAAAGTCTGTA	0.502													False	0	True	19:58232832	0	T	58232832	C	T	58232832	3	4	86	1	0	0	0	0	1	0	0	0	18161	826	29	2	986	2	ZNF671	19	58232832	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	12377853	58232832	896151	83	7537											
NKX2-2	4821	broad.mit.edu	37	chr20	21492879	21492879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatcttgacctgcgtgggCgtgaggcggatgaggctggc	18	9	1	4			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:21492879C>T	ENST00000377142.4	-	2	860	c.504G>A	c.(502-504)acG>acA	p.T168T	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	168					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCTGCGTGGGCGTGAGGCGGA	0.677													False	0	True	20:21492879	0	T	21492879	C	T	21492879	2	4	86	1	0	0	0	0	0	0	0	1	10518	755	27	1		1	NKX2-2	20	21492879	Silent	SNP	C	TCGA-IB-7647-01A-11D-2154-08		21492879	41532641	84	7538											
NFATC2	4773	broad.mit.edu	37	chr20	50140613	50140613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcggggtatgcgggtccgGagggtgggctggcgacctta	19	9	0	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:50140613G>A	ENST00000371564.3	-	2	386	c.167C>T	c.(166-168)tCc>tTc	p.S56F	NFATC2_ENST00000414705.1_Missense_Mutation_p.S36F|NFATC2_ENST00000609943.1_Missense_Mutation_p.S36F|NFATC2_ENST00000396009.3_Missense_Mutation_p.S56F|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609507.1_Intron	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	56					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGCGGGTCCGGAGGGTGGGCT	0.597													False	0	False	20:50140613	0	A	50140613	G	A	50140613	3	1	86	1	0	0	0	0	1	0	0	0	10430	1174	41	2	2694	2	NFATC2	20	50140613	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	28647734	50140613	12884907	85	7539											
MYT1	4661	broad.mit.edu	37	chr20	62851191	62851191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggtgtgaagtctcccgaCgcctcccagcgccacagcag	11	18	1	1	rs117853857	by1000genomes	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:62851191C>T	ENST00000536311.1	+	13	2542	c.2178C>T	c.(2176-2178)gaC>gaT	p.D726D	MYT1_ENST00000360149.4_Silent_p.D401D|MYT1_ENST00000328439.1_Silent_p.D699D			Q01538	MYT1_HUMAN	myelin transcription factor 1	699					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGTCTCCCGACGCCTCCCAGC	0.657													False	0	False	20:62851191	0	T	62851191	C	T	62851191	2	4	86	1	0	0	0	0	0	0	0	1	10173	535	19	1		1	MYT1	20	62851191	Silent	SNP	C	TCGA-IB-7647-01A-11D-2154-08	12710578	62851191	174329	86	7540											
SLC37A1	54020	broad.mit.edu	37	chr21	43999848	43999848	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctttgttttggtgcagttCctgatccgcctcatacacaa	7	12	1	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr21:43999848C>T	ENST00000352133.2	+	19	2506	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	SLC37A1_ENST00000398341.3_Silent_p.F508F			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	508					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TGGTGCAGTTCCTGATCCGCC	0.647													False	0	False	21:43999848	0	T	43999848	C	T	43999848	2	4	86	1	0	0	0	0	0	0	0	1	14677	854	30	2		2	SLC37A1	21	43999848	Silent	SNP	C	TCGA-IB-7647-01A-11D-2154-08		43999848	4130047	87	7541											
OR11H1	81061	broad.mit.edu	37	chr22	16449649	16449649	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctccattccctgttatagtCagtgcatatgttgtagtaaa	8	8	1	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr22:16449649C>T	ENST00000252835.4	-	1	156	c.156G>A	c.(154-156)ctG>ctA	p.L52L		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		CTGTTATAGTCAGTGCATATG	0.418													False	0	False	22:16449649	0	T	16449649	C	T	16449649	2	4	86	1	0	0	0	0	0	0	0	1	10994	813	29	2		2	OR11H1	22	16449649	Silent	SNP	C	TCGA-IB-7647-01A-11D-2154-08		16449649	34854917	88	7542											
MAGEB16	139604	broad.mit.edu	37	chrX	35820358	35820358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgcacacatgatcagcaCcttcagaccttcagtgagac	8	13	3	3			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:35820358C>T	ENST00000399989.1	+	2	324	c.45C>T	c.(43-45)caC>caT	p.H15H	MAGEB16_ENST00000399988.1_Silent_p.H15H|MAGEB16_ENST00000399992.1_Silent_p.H47H|MAGEB16_ENST00000399987.1_Silent_p.H15H|MAGEB16_ENST00000399985.1_Silent_p.H15H	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	15										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGATCAGCACCTTCAGACCT	0.572													False	0	False	X:35820358	0	T	35820358	C	T	35820358	2	4	86	1	0	0	0	0	0	0	0	1	9241	506	18	2		2	MAGEB16	23	35820358	Silent	SNP	C	TCGA-IB-7647-01A-11D-2154-08		35820358	119450202	89	7543											
CXorf22	170063	broad.mit.edu	37	chrX	35974224	35974224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatcataaaaaatcaatgcGaattacttcctgtgacgtac	6	9	2	1			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:35974224G>A	ENST00000297866.5	+	8	1387	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	441								p.E441K(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAATCAATGCGAATTACTTCC	0.358													False	0	False	X:35974224	0	A	35974224	G	A	35974224	3	1	86	1	0	0	0	0	1	0	0	0	4127	1059	37	1	1351	1	CXorf22	23	35974224	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	153866	35974224	119296336	90	7544											
GAGE2A	729447	broad.mit.edu	37	chrX	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagctgctcaggagggaCaggatgagggagcatctgca	16	9	2	1	rs147803166	by1000genomes	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562													False	0	False	X:49355893	0	G	49355893	C	G	49355893	3	3	86	1	0	0	0	0	1	0	0	0	6232	479	17	5	1282	5	GAGE2A	23	49355893	Missense_Mutation	SNP	C	TCGA-IB-7647-01A-11D-2154-08	13381669	49355893	105914667	91	7545											
GPR112	139378	broad.mit.edu	37	chrX	135432097	135432097	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccattcctacacctacactgGgtggtatcactactggcttc	7	14	1	0			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:135432097G>C	ENST00000394143.1	+	6	6523	c.6232G>C	c.(6232-6234)Ggt>Cgt	p.G2078R	GPR112_ENST00000394141.1_Missense_Mutation_p.G1873R|GPR112_ENST00000370652.1_Missense_Mutation_p.G2078R|GPR112_ENST00000287534.4_Missense_Mutation_p.G2015R|GPR112_ENST00000412101.1_Missense_Mutation_p.G1873R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2078					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCTACACTGGGTGGTATCAC	0.468													False	0	True	X:135432097	0	C	135432097	G	C	135432097	3	2	86	1	0	0	0	0	1	0	0	0	6675	1232	43	5	6242	5	GPR112	23	135432097	Missense_Mutation	SNP	G	TCGA-IB-7647-01A-11D-2154-08	86076204	135432097	19838463	92	7546											
VPS13D	55187	broad.mit.edu	37	chr1	12409419	12409420	+	Frame_Shift_Ins	INS	-	-	GGTTAACA													tctatggacacagaaaaaagINSccgatttttcaggtatgtag							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:12409419_12409420insGGTTAACA	ENST00000358136.3	+	46	9549_9550	c.9419_9420insGGTTAACA	c.(9418-9423)agccgafs	p.SR3140fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.SR3115fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3139					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAGAAAAAAGCCGATTTTTCA	0.386													False	0	False	1:12409419	0	GGTTAACA	12409420	-	GGTTAACA	12409419	7	5	87	1	0	1	1	0	0	0	0	0	17276	971	34	0	9597	0	VPS13D	1	12409419	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08		12409419	236841202	1	7547											
INADL	10207	broad.mit.edu	37	chr1	62288675	62288676	+	In_Frame_Ins	INS	-	-	AAATCC													gattcctttgatgggcaccaINSttatatttcttcaattgttt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:62288675_62288676insAAATCC	ENST00000371158.2	+	15	1856_1857	c.1742_1743insAAATCC	c.(1741-1746)cattat>caAAATCCttat	p.581_581H>QNP	INADL_ENST00000316485.6_In_Frame_Ins_p.581_581H>QNP	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	581	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.H581R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATGGGCACCATTATATTTCTT	0.426													False	0	False	1:62288675	0	AAATCC	62288676	-	AAATCC	62288675	7	5	87	1	0	1	1	0	0	0	0	0	7781	217	8	0	1796	0	INADL	1	62288675	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	49879256	62288675	186961946	2	7548											
SLC25A24	29957	broad.mit.edu	37	chr1	108724652	108724653	+	Splice_Site	INS	-	-	CCCATTCATTTTG													ctgaagcctcaatttttcctINSttaaaaaaataaaaagggca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:108724652_108724653insCCCATTCATTTTG	ENST00000565488.1	-	3	530		c.e3-2		SLC25A24_ENST00000370041.4_Splice_Site	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24						transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CAATTTTTCCTTTAAAAAAATA	0.337													False	0	True	1:108724652	0	CCCATTCATTTTG	108724653	-	CCCATTCATTTTG	108724652	8	5	87	1	0	1	1	0	0	0	1	0	14567	1623	56	0	1156	0	SLC25A24	1	108724652	Splice_Site	INS	-	TCGA-IB-7649-01A-11D-2154-08	46435977	108724652	140525969	3	7549											
NOTCH2	4853	broad.mit.edu	37	chr1	120458705	120458706	+	In_Frame_Ins	INS	-	-	ATAGCT													gagggaagcacagtgctggcINScccatgtgccaaaggctgca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:120458705_120458706insATAGCT	ENST00000256646.2	-	34	6858_6859	c.6639_6640insAGCTAT	c.(6637-6642)ggggcc>gggAGCTATgcc	p.2213_2214GA>GSYA		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2213					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGTGCTGGCCCCATGTGCCA	0.564			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				False	0	True	1:120458705	0	ATAGCT	120458706	-	ATAGCT	120458705	7	5	87	1	0	1	1	0	0	0	0	0	10616	739	26	0	779	0	NOTCH2	1	120458705	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	11734053	120458705	128791916	4	7550											
SEC22B	9554	broad.mit.edu	37	chr1	145115910	145115911	+	RNA	INS	-	-	AAGTATT													ataatgaatacagtcactggINStaagggagaacctagaaccc							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:145115910_145115911insAAGTATT	ENST00000453618.1	+	0	996_997							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										ACAGTCACTGGTAAGGGAGAAC	0.401													False	0	False	1:145115910	0	AAGTATT	145115911	-	AAGTATT	145115910	6	5	87	0	1	1	1	0	0	0	0	0	14070	1276	44	0		0	SEC22B	1	145115910	RNA	INS	-	TCGA-IB-7649-01A-11D-2154-08	24657205	145115910	104134711	5	7551											
LCE1F	353137	broad.mit.edu	37	chr1	152748914	152748928	+	In_Frame_Del	DEL	AAGTGCCCCACACCG	AAGTGCCCCACACCG	-													gcactcccaagtgccctcccAagtgccccacaccgaagtgc					rs145192933		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AAGTGCCCCACACCG	AAGTGCCCCACACCG	-	-	AAGTGCCCCACACCG	AAGTGCCCCACACCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:152748914_152748928delAAGTGCCCCACACCG	ENST00000334371.2	+	1	67_81	c.67_81delAAGTGCCCCACACCG	c.(67-81)aagtgccccacaccgdel	p.KCPTP23del		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	23	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gtgccctcccaagtgccccacaccgaagtgccccc	0.651													False	1	True	1:152748914	0	-	152748928	AAGTGCCCCACACCG	-	152748914	7	5	87	1	0	1	0	1	0	0	0	0	8715	131	5	0	69	0	LCE1F	1	152748914	In_Frame_Del	DEL	AAGTGCCCCACACCG	TCGA-IB-7649-01A-11D-2154-08	7633004	152748914	96501707	6	7552											
NUP210L	91181	broad.mit.edu	37	chr1	154030623	154030624	+	In_Frame_Ins	INS	-	-	CAGATTTTCTCC													tccatgtttctgaagtatttINSattttggaatgggcgtttgg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:154030623_154030624insCAGATTTTCTCC	ENST00000368559.3	-	22	3119_3120	c.3048_3049insGGAGAAAATCTG	c.(3046-3051)aataaa>aatGGAGAAAATCTGaaa	p.1016_1017NK>NGENLK	NUP210L_ENST00000271854.3_In_Frame_Ins_p.1016_1017NK>NGENLK	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1016						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	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)			CTGAAGTATTTATTTTGGAATG	0.386													False	0	True	1:154030623	0	CAGATTTTCTCC	154030624	-	CAGATTTTCTCC	154030623	7	5	87	1	0	1	1	0	0	0	0	0	10829	1763	61	0	2693	0	NUP210L	1	154030623	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	1281709	154030623	95219998	7	7553											
FAM20B	9917	broad.mit.edu	37	chr1	179013286	179013287	+	In_Frame_Ins	INS	-	-	ATCTAA													aatcattaaagctgatgtggINSgttataaagggacacagctg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:179013286_179013287insATCTAA	ENST00000263733.4	+	2	640_641	c.304_305insATCTAA	c.(304-306)ggt>gATCTAAgt	p.102_102G>DLS		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	102						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						AGCTGATGTGGGTTATAAAGGG	0.485													False	0	True	1:179013286	0	ATCTAA	179013287	-	ATCTAA	179013286	7	5	87	1	0	1	1	0	0	0	0	0	5574	1232	43	0	306	0	FAM20B	1	179013286	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	24982663	179013286	70237335	8	7554											
CYB5R1	51706	broad.mit.edu	37	chr1	202931786	202931789	+	Frame_Shift_Del	DEL	GGAT	GGAT	-													tggagcgggcaggtgttcccGgatcatgtcggcagtcacaa							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GGAT	GGAT	-	-	GGAT	GGAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:202931786_202931789delGGAT	ENST00000367249.4	-	9	858_861	c.784_787delATCC	c.(784-789)atccggfs	p.IR262fs	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	262					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGTGTTCCCGGATCATGTCGGCA	0.559													False	1	False	1:202931786	0	-	202931789	GGAT	-	202931786	7	5	87	1	0	1	0	1	0	0	0	0	4151	1115	39	0	134	0	CYB5R1	1	202931786	Frame_Shift_Del	DEL	GGAT	TCGA-IB-7649-01A-11D-2154-08	23918500	202931786	46318835	9	7555											
LRRN2	10446	broad.mit.edu	37	chr1	204587730	204587730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcatgggcaggtgtcagtCgaagcccagctggagtgacc	15	11	1	1			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:204587730C>T	ENST00000367175.1	-	1	3603	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	LRRN2_ENST00000367176.3_Missense_Mutation_p.R464Q|LRRN2_ENST00000367177.3_Missense_Mutation_p.R464Q			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	464	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGTGTCAGTCGAAGCCCAGC	0.637													False	0	False	1:204587730	0	T	204587730	C	T	204587730	3	4	87	1	0	0	0	0	1	0	0	0	9097	884	31	1	754	1	LRRN2	1	204587730	Missense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08	1655944	204587730	44662891	10	7556											
C4BPB	725	broad.mit.edu	37	chr1	207265131	207265132	+	Frame_Shift_Ins	INS	-	-	TGAAGAAGAA													gccagtgtctagaggaccacINSacctgggcacctccctttcc							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:207265131_207265132insTGAAGAAGAA	ENST00000243611.5	+	3	669_670	c.375_376insTGAAGAAGAA	c.(376-378)accfs	p.T126fs	C4BPB_ENST00000451804.2_Frame_Shift_Ins_p.T116fs|C4BPB_ENST00000391923.1_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000367078.3_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000367076.3_Frame_Shift_Ins_p.T125fs	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	126	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						TAGAGGACCACACCTGGGCACC	0.45													False	0	False	1:207265131	0	TGAAGAAGAA	207265132	-	TGAAGAAGAA	207265131	7	5	87	1	0	1	1	0	0	0	0	0	2267	477	17	0	385	0	C4BPB	1	207265131	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	2677401	207265131	41985490	11	7557											
ZNF678	339500	broad.mit.edu	37	chr1	227842194	227842195	+	In_Frame_Ins	INS	-	-	ATAAAAATAAAAAGT													aaggtaaggggcagaaagaaINStattgcaatagacttactca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:227842194_227842195insATAAAAATAAAAAGT	ENST00000343776.4	+	4	588_589	c.243_244insATAAAAATAAAAAGT	c.(244-246)tat>ATAAAAATAAAAAGTtat	p.81_82insIKIKS	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_In_Frame_Ins_p.136_137insIKIKS			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	136					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GGCAGAAAGAATATTGCAATAG	0.386													False	0	True	1:227842194	0	ATAAAAATAAAAAGT	227842195	-	ATAAAAATAAAAAGT	227842194	7	5	87	1	0	1	1	0	0	0	0	0	18168	98	4	0	422	0	ZNF678	1	227842194	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	20577063	227842194	21408427	12	7558											
COLEC11	78989	broad.mit.edu	37	chr2	3691377	3691377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgaaggaggagaagcGctacgcggacgcccagctgt	17	10	0	2			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:3691377G>A	ENST00000403096.3	+	6	898	c.407G>A	c.(406-408)cGc>cAc	p.R136H	COLEC11_ENST00000236693.7_Missense_Mutation_p.R159H|COLEC11_ENST00000349077.4_Missense_Mutation_p.R162H|COLEC11_ENST00000382062.2_Missense_Mutation_p.R138H|COLEC11_ENST00000404205.1_Missense_Mutation_p.R88H|COLEC11_ENST00000402922.1_Missense_Mutation_p.R112H|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.R176H|COLEC11_ENST00000402794.1_Missense_Mutation_p.R112H	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	162						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GAGGAGAAGCGCTACGCGGAC	0.637													False	0	False	2:3691377	0	A	3691377	G	A	3691377	3	1	87	1	0	0	0	0	1	0	0	0	3734	1087	38	1	590	1	COLEC11	2	3691377	Missense_Mutation	SNP	G	TCGA-IB-7649-01A-11D-2154-08		3691377	239507996	13	7559											
KCNK3	3777	broad.mit.edu	37	chr2	26951301	26951301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactcgtcgccgggagggggCggccgctacagcgacacgcc	16	16	0	0			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:26951301C>T	ENST00000302909.3	+	2	1175	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	350					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGGAGGGGGCGGCCGCTACA	0.701													False	0	True	2:26951301	0	T	26951301	C	T	26951301	2	4	87	1	0	0	0	0	0	0	0	1	8117	755	27	1		1	KCNK3	2	26951301	Silent	SNP	C	TCGA-IB-7649-01A-11D-2154-08	23259924	26951301	216248072	14	7560											
HEATR5B	54497	broad.mit.edu	37	chr2	37229645	37229646	+	Frame_Shift_Ins	INS	-	-	TCCCTTT													caaacacaagagattttccaINSggaatgagaccaccgctgtc							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:37229645_37229646insTCCCTTT	ENST00000233099.5	-	32	5215_5216	c.5120_5121insAAAGGGA	c.(5119-5121)cctfs	p.-1707fs	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B								binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAGATTTTCCAGGAATGAGACC	0.436													False	0	False	2:37229645	0	TCCCTTT	37229646	-	TCCCTTT	37229645	7	5	87	1	0	1	1	0	0	0	0	0	7079	175	7	0	1114	0	HEATR5B	2	37229645	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	10278344	37229645	205969728	15	7561											
USP34	9736	broad.mit.edu	37	chr2	61416172	61416173	+	Frame_Shift_Ins	INS	-	-	GTTC													ttaactgtttgggagtgtgtINSactgacaggagcaaagcgag							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:61416172_61416173insGTTC	ENST00000398571.2	-	79	9981_9982	c.9905_9906insGAAC	c.(9904-9906)gtafs	p.-3302fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGGGAGTGTGTACTGACAGGAG	0.431													False	0	True	2:61416172	0	GTTC	61416173	-	GTTC	61416172	7	5	87	1	0	1	1	0	0	0	0	0	17149	1625	57	0	742	0	USP34	2	61416172	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	24186527	61416172	181783201	16	7562	131	2									
USP34	9736	broad.mit.edu	37	chr2	61416173	61416174	+	Frame_Shift_Ins	INS	-	-	G													taactgtttgggagtgtgtaINSctgacaggagcaaagcgagt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:61416173_61416174insG	ENST00000398571.2	-	79	9980_9981	c.9904_9905insC	c.(9904-9906)gtafs	p.V3302fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3302					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GGGAGTGTGTACTGACAGGAGC	0.426													False	0	False	2:61416173	0	G	61416174	-	G	61416173	7	5	87	1	0	1	1	0	0	0	0	0	17149	391	14	0	743	0	USP34	2	61416173	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	1	61416173	181783200	17	7563	131	2									
BIN1	274	broad.mit.edu	37	chr2	127806138	127806138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagttctcggggaagacGccacggcacttctccagctc	12	13	2	2			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:127806138G>A	ENST00000316724.5	-	19	2157	c.1746C>T	c.(1744-1746)ggC>ggT	p.G582G	BIN1_ENST00000376113.2_Silent_p.G413G|BIN1_ENST00000348750.4_Silent_p.G398G|BIN1_ENST00000346226.3_Silent_p.G507G|BIN1_ENST00000393040.3_Silent_p.G471G|BIN1_ENST00000259238.4_Silent_p.G486G|BIN1_ENST00000409400.1_Silent_p.G428G|BIN1_ENST00000352848.3_Silent_p.G443G|BIN1_ENST00000393041.3_Silent_p.G464G|BIN1_ENST00000357970.3_Silent_p.G539G|BIN1_ENST00000351659.3_Silent_p.G495G	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	582	SH3.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		p.G582G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CGGGGAAGACGCCACGGCACT	0.622													False	0	False	2:127806138	0	A	127806138	G	A	127806138	2	1	87	1	0	0	0	0	0	0	0	1	1437	1074	38	1		1	BIN1	2	127806138	Silent	SNP	G	TCGA-IB-7649-01A-11D-2154-08	66389965	127806138	115393235	18	7564											
TTN	7273	broad.mit.edu	37	chr2	179429212	179429212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagctggctttcatccagCggccatcaggtagatctttc	9	11	3	1			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:179429212C>T	ENST00000589042.1	-	326	81871	c.81647G>A	c.(81646-81648)cGc>cAc	p.R27216H	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24648H|TTN_ENST00000460472.2_Missense_Mutation_p.R18151H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18276H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18343H|TTN_ENST00000591111.1_Missense_Mutation_p.R25575H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25575	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCATCCAGCGGCCATCAGG	0.368													False	0	False	2:179429212	0	T	179429212	C	T	179429212	3	4	87	1	0	0	0	0	1	0	0	0	16819	768	27	1	26480	1	TTN	2	179429212	Missense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08	51623074	179429212	63770161	19	7565											
SEPT2	4735	broad.mit.edu	37	chr2	242283288	242283289	+	In_Frame_Ins	INS	-	-	AACACA													aacccagagcacaatgacttINStctgaagctgagaaccatgc							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:242283288_242283289insAACACA	ENST00000391973.2	+	9	1346_1347	c.818_819insAACACA	c.(817-822)tttctg>ttAACACAtctg	p.273_273F>LTH	SEPT2_ENST00000401990.1_In_Frame_Ins_p.283_283F>LTH|SEPT2_ENST00000360051.3_In_Frame_Ins_p.273_273F>LTH|SEPT2_ENST00000407971.1_In_Frame_Ins_p.233_233F>LTH|SEPT2_ENST00000402092.2_In_Frame_Ins_p.273_273F>LTH|SEPT2_ENST00000391971.2_In_Frame_Ins_p.273_273F>LTH	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	273					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CACAATGACTTTCTGAAGCTGA	0.49													False	0	True	2:242283288	0	AACACA	242283289	-	AACACA	242283288	7	5	87	1	0	1	1	0	0	0	0	0	14145	1841	64	0	848	0	SEPT2	2	242283288	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	62854076	242283288	916085	20	7566											
GOLGA4	2803	broad.mit.edu	37	chr3	37367990	37367991	+	In_Frame_Ins	INS	-	-	AATCAAATCTTT													gaccatattacccagaaaacINStattgaaatagagtccttaa							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:37367990_37367991insAATCAAATCTTT	ENST00000361924.2	+	14	4987_4988	c.4613_4614insAATCAAATCTTT	c.(4612-4617)actatt>acAATCAAATCTTTtatt	p.1539_1540insKSFI	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_In_Frame_Ins_p.1561_1562insKSFI	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1539	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACCCAGAAAACTATTGAAATAG	0.312													False	0	False	3:37367990	0	AATCAAATCTTT	37367991	-	AATCAAATCTTT	37367990	7	5	87	1	0	1	1	0	0	0	0	0	6600	565	20	0	4737	0	GOLGA4	3	37367990	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08		37367990	160654440	21	7567											
SHQ1	55164	broad.mit.edu	37	chr3	72893552	72893552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcacttccattttctaCaattcttccaggaagggtta	6	10	3	0			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:72893552C>T	ENST00000325599.8	-	2	305	c.166G>A	c.(166-168)Gta>Ata	p.V56I	SHQ1_ENST00000463369.1_Missense_Mutation_p.V28I	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	56	CS.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	p.V56L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CCATTTTCTACAATTCTTCCA	0.333													False	0	False	3:72893552	0	T	72893552	C	T	72893552	3	4	87	1	0	0	0	0	1	0	0	0	14373	478	17	2	1607	2	SHQ1	3	72893552	Missense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08	35525562	72893552	125128878	22	7568											
IFT57	55081	broad.mit.edu	37	chr3	107925522	107925523	+	Frame_Shift_Ins	INS	-	-	CTATATATAAAATGTTATAA													ttgagatcaataaagttttcINSttcattatctgtctcttctt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:107925522_107925523insCTATATATAAAATGTTATAA	ENST00000264538.3	-	5	853_854	c.606_607insTTATAACATTTTATATATAG	c.(604-609)gaagaafs	p.E203fs		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	203					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	p.E203*(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			ATAAAGTTTTCTTCATTATCTG	0.277													False	0	False	3:107925522	0	CTATATATAAAATGTTATAA	107925523	-	CTATATATAAAATGTTATAA	107925522	7	5	87	1	0	1	1	0	0	0	0	0	7612	922	32	0	710	0	IFT57	3	107925522	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	35031970	107925522	90096908	23	7569											
MYLK	4638	broad.mit.edu	37	chr3	123419117	123419119	+	In_Frame_Del	DEL	TTC	TTC	-													ttcttaacgtctttcttgagTtcttctttgctagcggattt					rs75967604		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TTC	TTC	-	-	TTC	TTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:123419117_123419119delTTC	ENST00000360772.3	-	19	3574_3576	c.3196_3198delGAA	c.(3196-3198)gaadel	p.E1066del	MYLK_ENST00000475616.1_In_Frame_Del_p.E1066del|MYLK_ENST00000359169.1_In_Frame_Del_p.E1066del|MYLK_ENST00000346322.5_In_Frame_Del_p.E997del|MYLK_ENST00000360304.3_In_Frame_Del_p.E1066del			Q15746	MYLK_HUMAN	myosin light chain kinase	1066	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.E1066K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTTCTTGAGTTCTTCTTTGCTA	0.527													False	2	False	3:123419117	0	-	123419119	TTC	-	123419117	7	5	87	1	0	1	0	1	0	0	0	0	10123	1722	60	0	2614	0	MYLK	3	123419117	In_Frame_Del	DEL	TTC	TCGA-IB-7649-01A-11D-2154-08	15493595	123419117	74603313	24	7570											
COL6A6	131873	broad.mit.edu	37	chr3	130300843	130300844	+	Frame_Shift_Ins	INS	-	-	AACTGTTATATCCTTCAGGC													actttcttaggtggtcctttINStattttcagatggattggat							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:130300843_130300844insAACTGTTATATCCTTCAGGC	ENST00000358511.6	+	9	3932_3933	c.3901_3902insAACTGTTATATCCTTCAGGC	c.(3901-3903)ttafs	p.L1301fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.L1301fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1301	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTGGTCCTTTTATTTTCAGAT	0.337													False	0	True	3:130300843	0	AACTGTTATATCCTTCAGGC	130300844	-	AACTGTTATATCCTTCAGGC	130300843	7	5	87	1	0	1	1	0	0	0	0	0	3726	1838	64	0	3935	0	COL6A6	3	130300843	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	6881726	130300843	67721587	25	7571											
PIK3R4	30849	broad.mit.edu	37	chr3	130452457	130452457	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggctatgcctggcagaatgTattccggataaatattgata	11	6	0	2			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:130452457T>A	ENST00000356763.3	-	4	1942	c.1385A>T	c.(1384-1386)tAc>tTc	p.Y462F		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	462					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGGCAGAATGTATTCCGGATA	0.438													False	0	False	3:130452457	0	A	130452457	T	A	130452457	3	1	87	1	0	0	0	0	1	0	0	0	11990	1638	57	5	2759	5	PIK3R4	3	130452457	Missense_Mutation	SNP	T	TCGA-IB-7649-01A-11D-2154-08	151614	130452457	67569973	26	7572											
ATP2C1	27032	broad.mit.edu	37	chr3	130672697	130672698	+	Frame_Shift_Ins	INS	-	-	TATCAAA													ccattgatgagtccagcttgINSacaggtgagacaacgccttg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:130672697_130672698insTATCAAA	ENST00000510168.1	+	9	1114_1115	c.564_565insTATCAAA	c.(565-567)acafs	p.T189fs	ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.T184fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.T134fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.T223fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.T189fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	189					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AGTCCAGCTTGACAGGTGAGAC	0.431									Hailey-Hailey disease				False	0	False	3:130672697	0	TATCAAA	130672698	-	TATCAAA	130672697	7	5	87	1	0	1	1	0	0	0	0	0	1147	1281	45	0	594	0	ATP2C1	3	130672697	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	220240	130672697	67349733	27	7573											
DNAJC13	23317	broad.mit.edu	37	chr3	132242460	132242461	+	Frame_Shift_Ins	INS	-	-	GAAGCTAGAAATGCACACCA													ggagtcttcttgaggatcttINStattgcacaaccagcctggg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:132242460_132242461insGAAGCTAGAAATGCACACCA	ENST00000260818.6	+	51	6211_6212	c.5963_5964insGAAGCTAGAAATGCACACCA	c.(5962-5967)tttattfs	p.F1988fs		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1988							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTGAGGATCTTTATTGCACAAC	0.411													False	0	True	3:132242460	0	GAAGCTAGAAATGCACACCA	132242461	-	GAAGCTAGAAATGCACACCA	132242460	7	5	87	1	0	1	1	0	0	0	0	0	4662	1841	64	0	6161	0	DNAJC13	3	132242460	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	1569763	132242460	65779970	28	7574											
IGSF10	285313	broad.mit.edu	37	chr3	151164707	151164707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctatatgggctgataatcCgcccccttccgccaattttc	6	14	1	1	rs35114212	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:151164707C>T	ENST00000282466.3	-	4	3061	c.3062G>A	c.(3061-3063)cGg>cAg	p.R1021Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1021					cell differentiation|multicellular organismal development|ossification	extracellular region		p.R1021Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGATAATCCGCCCCCTTCC	0.473													False	0	False	3:151164707	0	T	151164707	C	T	151164707	3	4	87	1	0	0	0	0	1	0	0	0	7647	652	23	1	4869	1	IGSF10	3	151164707	Missense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08	18922247	151164707	46857723	29	7575											
BCHE	590	broad.mit.edu	37	chr3	165548002	165548002	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaccagtcaatttagctaAgttcaacgttctgttcctag	7	10	3	0			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:165548002A>C	ENST00000264381.3	-	2	986	c.820T>G	c.(820-822)Tta>Gta	p.L274V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	274					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AATTTAGCTAAGTTCAACGTT	0.388													False	0	False	3:165548002	0	C	165548002	A	C	165548002	3	2	87	1	0	0	0	0	1	0	0	0	1362	69	3	4	1000	4	BCHE	3	165548002	Missense_Mutation	SNP	A	TCGA-IB-7649-01A-11D-2154-08	14383295	165548002	32474428	30	7576											
ZBBX	79740	broad.mit.edu	37	chr3	167000284	167000285	+	Splice_Site	INS	-	-	AGAATGAGCTTTCCT													ggtctctgtgatttctgaccINStaaaattaaaagtaaaaagt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:167000284_167000285insAGAATGAGCTTTCCT	ENST00000392766.2	-	19	2220		c.e19-1		ZBBX_ENST00000307529.5_Splice_Site|ZBBX_ENST00000455345.2_Splice_Site|ZBBX_ENST00000392767.2_Splice_Site|ZBBX_ENST00000392764.1_Splice_Site	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing							intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GATTTCTGACCTAAAATTAAAA	0.342													False	0	True	3:167000284	0	AGAATGAGCTTTCCT	167000285	-	AGAATGAGCTTTCCT	167000284	8	5	87	1	0	1	1	0	0	0	1	0	17600	695	24	0	535	0	ZBBX	3	167000284	Splice_Site	INS	-	TCGA-IB-7649-01A-11D-2154-08	1452282	167000284	31022146	31	7577											
VPS8	23355	broad.mit.edu	37	chr3	184542503	184542504	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT													gagctgaataagtctttcaaINStctagaagcttcactttcaa							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:184542503_184542504insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	ENST00000436792.2	+	2	226_227	c.83_84insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	c.(82-87)aatctafs	p.NL28fs	VPS8_ENST00000446204.2_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000437079.3_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000424463.2_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000287546.4_Frame_Shift_Ins_p.NL28fs			Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	28							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AAGTCTTTCAATCTAGAAGCTT	0.351													False	0	False	3:184542503	0	AAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	184542504	-	AAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	184542503	7	5	87	1	0	1	1	0	0	0	0	0	17302	101	4	0	85	0	VPS8	3	184542503	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	17542219	184542503	13479927	32	7578											
ATP10D	57205	broad.mit.edu	37	chr4	47574988	47574989	+	Frame_Shift_Ins	INS	-	-	ATGAAAATCAGTT													tacacggctttccaacatgaINSttctctattttttctataag							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:47574988_47574989insATGAAAATCAGTT	ENST00000273859.3	+	18	3609_3610	c.3340_3341insATGAAAATCAGTT	c.(3340-3342)attfs	p.I1114fs		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1114					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCCAACATGATTCTCTATTTT	0.446													False	0	False	4:47574988	0	ATGAAAATCAGTT	47574989	-	ATGAAAATCAGTT	47574988	7	5	87	1	0	1	1	0	0	0	0	0	1122	333	12	0	3406	0	ATP10D	4	47574988	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08		47574988	143579288	33	7579											
SLC4A4	8671	broad.mit.edu	37	chr4	72338763	72338764	+	In_Frame_Ins	INS	-	-	TTG													ctccatgcttgcaaattttcINSaacatgctgtcatggtcctc							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:72338763_72338764insTTG	ENST00000512686.1	+	11	2043_2044	c.1847_1848insTTG	c.(1846-1851)tcaaca>tcTTGaaca	p.616_617ST>S*T	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000351898.6_Intron			Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGCAAATTTTCAACATGCTGTC	0.431													False	0	False	4:72338763	0	TTG	72338764	-	TTG	72338763	7	5	87	1	0	1	1	0	0	0	0	0	14736	841	29	0		0	SLC4A4	4	72338763	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	24763775	72338763	118815513	34	7580	132	2									
SLC4A4	8671	broad.mit.edu	37	chr4	72338765	72338766	+	Frame_Shift_Ins	INS	-	-	AG													ccatgcttgcaaattttcaaINScatgctgtcatggtcctcag							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:72338765_72338766insAG	ENST00000512686.1	+	11	2045_2046	c.1849_1850insAG	c.(1849-1851)acafs	p.T617fs	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000351898.6_Intron			Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CAAATTTTCAACATGCTGTCAT	0.426													False	0	False	4:72338765	0	AG	72338766	-	AG	72338765	7	5	87	1	0	1	1	0	0	0	0	0	14736	58	2	0		0	SLC4A4	4	72338765	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	2	72338765	118815511	35	7581	132	2									
TBCK	93627	broad.mit.edu	37	chr4	107114909	107114910	+	Frame_Shift_Ins	INS	-	-	GACTATGAAATAA													atcccagaggtggaaaatttINStgtgtagtggaaatacatct							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:107114909_107114910insGACTATGAAATAA	ENST00000273980.4	-	23	2362_2363	c.1915_1916insTTATTTCATAGTC	c.(1915-1917)aaafs	p.K639fs	TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000361687.4_Frame_Shift_Ins_p.K576fs|TBCK_ENST00000394708.2_Frame_Shift_Ins_p.K639fs|TBCK_ENST00000394706.3_Frame_Shift_Ins_p.K600fs|TBCK_ENST00000432496.2_Frame_Shift_Ins_p.K639fs			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	639	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GTGGAAAATTTTGTGTAGTGGA	0.337													False	0	True	4:107114909	0	GACTATGAAATAA	107114910	-	GACTATGAAATAA	107114909	7	5	87	1	0	1	1	0	0	0	0	0	15718	1841	64	0	785	0	TBCK	4	107114909	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	34776144	107114909	84039367	36	7582											
FAT4	79633	broad.mit.edu	37	chr4	126412333	126412333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaatcttctcctccagtcGgactttctattgaagaagtg	9	9	3	2	rs138173652		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:126412333G>A	ENST00000394329.3	+	17	14369	c.14356G>A	c.(14356-14358)Gga>Aga	p.G4786R	FAT4_ENST00000335110.5_Missense_Mutation_p.G3027R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4786					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCTCCAGTCGGACTTTCTAT	0.527													False	0	False	4:126412333	0	A	126412333	G	A	126412333	3	1	87	1	0	0	0	0	1	0	0	0	5732	1117	39	1	14422	1	FAT4	4	126412333	Missense_Mutation	SNP	G	TCGA-IB-7649-01A-11D-2154-08	19297424	126412333	64741943	37	7583											
C5orf42	65250	broad.mit.edu	37	chr5	37169171	37169172	+	Frame_Shift_Ins	INS	-	-	CAGAAGAAAGA													ttttcttgtccaacatattgINSatccaagttcacatgattag							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:37169171_37169172insCAGAAGAAAGA	ENST00000508244.1	-	33	7047_7048	c.6954_6955insTCTTTCTTCTG	c.(6952-6957)gatcaafs	p.Q2319fs	C5orf42_ENST00000274258.7_Frame_Shift_Ins_p.Q1199fs|C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.Q2319fs			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2319										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCAACATATTGATCCAAGTTCA	0.371													False	0	False	5:37169171	0	CAGAAGAAAGA	37169172	-	CAGAAGAAAGA	37169171	7	5	87	1	0	1	1	0	0	0	0	0	2318	1299	45	0	2714	0	C5orf42	5	37169171	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08		37169171	143746089	38	7584											
SLC38A9	153129	broad.mit.edu	37	chr5	54929718	54929719	+	Frame_Shift_Ins	INS	-	-	TAAA													gtgtcactgctagggaagttINSgtctaaaaaattctaatcca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:54929718_54929719insTAAA	ENST00000512595.1	-	12	1279_1280	c.1104_1105insTTTA	c.(1102-1107)gacaacfs	p.N369fs	SLC38A9_ENST00000515629.1_Frame_Shift_Ins_p.N369fs|SLC38A9_ENST00000416547.2_Frame_Shift_Ins_p.N308fs|SLC38A9_ENST00000396865.2_Frame_Shift_Ins_p.N432fs|SLC38A9_ENST00000318672.3_Frame_Shift_Ins_p.N432fs|SLC38A9_ENST00000539768.1_3'UTR	NM_001258287.1	NP_001245216.1	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	432					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CTAGGGAAGTTGTCTAAAAAAT	0.386													False	0	False	5:54929718	0	TAAA	54929719	-	TAAA	54929718	7	5	87	1	0	1	1	0	0	0	0	0	14691	1812	63	0	403	0	SLC38A9	5	54929718	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	17760547	54929718	125985542	39	7585	133	2									
SLC38A9	153129	broad.mit.edu	37	chr5	54929719	54929720	+	In_Frame_Ins	INS	-	-	TGTGACTGA													tgtcactgctagggaagttgINStctaaaaaattctaatccaa							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:54929719_54929720insTGTGACTGA	ENST00000512595.1	-	12	1278_1279	c.1103_1104insTCAGTCACA	c.(1102-1104)gac>gaTCAGTCACAc	p.368_369insQSH	SLC38A9_ENST00000515629.1_In_Frame_Ins_p.368_369insQSH|SLC38A9_ENST00000416547.2_In_Frame_Ins_p.307_308insQSH|SLC38A9_ENST00000396865.2_In_Frame_Ins_p.431_432insQSH|SLC38A9_ENST00000318672.3_In_Frame_Ins_p.431_432insQSH|SLC38A9_ENST00000539768.1_3'UTR	NM_001258287.1	NP_001245216.1	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	431					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TAGGGAAGTTGTCTAAAAAATT	0.391													False	0	False	5:54929719	0	TGTGACTGA	54929720	-	TGTGACTGA	54929719	7	5	87	1	0	1	1	0	0	0	0	0	14691	1368	48	0	404	0	SLC38A9	5	54929719	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	1	54929719	125985541	40	7586	133	2									
IL31RA	133396	broad.mit.edu	37	chr5	55164724	55164725	+	Frame_Shift_Ins	INS	-	-	AAATATTGCCAGCA													agttatacccagtacacagtINStaagagaacttagtaagtac							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:55164724_55164725insAAATATTGCCAGCA	ENST00000396834.1	+	5	699_700	c.203_204insAAATATTGCCAGCA	c.(202-207)gttaagfs	p.K69fs	IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000359040.5_Frame_Shift_Ins_p.K88fs|IL31RA_ENST00000297015.3_Intron|IL31RA_ENST00000447346.2_Frame_Shift_Ins_p.K88fs|IL31RA_ENST00000396836.2_Frame_Shift_Ins_p.K88fs|IL31RA_ENST00000354961.4_Frame_Shift_Ins_p.K69fs	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	56	Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAGTACACAGTTAAGAGAACTT	0.431													False	0	False	5:55164724	0	AAATATTGCCAGCA	55164725	-	AAATATTGCCAGCA	55164724	7	5	87	1	0	1	1	0	0	0	0	0	7741	1725	60	0	270	0	IL31RA	5	55164724	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	235005	55164724	125750536	41	7587											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	87	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-IB-7649-01A-11D-2154-08	23445720	78610444	102304816	42	7588											
CMYA5	202333	broad.mit.edu	37	chr5	79025540	79025541	+	In_Frame_Ins	INS	-	-	ATTTCTTTAATTACATAACCC													agagtccctaaccttaatgtINStcagtcatgaagatcaaaag							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:79025540_79025541insATTTCTTTAATTACATAACCC	ENST00000446378.2	+	2	983_984	c.952_953insATTTCTTTAATTACATAACCC	c.(952-954)ttc>tATTTCTTTAATTACATAACCCtc	p.318_318F>YFFNYITL		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	318						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACCTTAATGTTCAGTCATGAA	0.431													False	0	False	5:79025540	0	ATTTCTTTAATTACATAACCC	79025541	-	ATTTCTTTAATTACATAACCC	79025540	7	5	87	1	0	1	1	0	0	0	0	0	3613	1725	60	0	958	0	CMYA5	5	79025540	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	415096	79025540	101889720	43	7589											
MEF2C	4208	broad.mit.edu	37	chr5	88047851	88047852	+	Translation_Start_Site	INS	-	-	AACCATT													ggcatctcgaagttgggaggINStggaacagcctgcaggaaca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:88047851_88047852insAACCATT	ENST00000503554.1	-	0	356_357				MEF2C_ENST00000424173.2_Frame_Shift_Ins_p.P136fs|MEF2C_ENST00000510942.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000437473.2_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000340208.5_Frame_Shift_Ins_p.P156fs|MEF2C_ENST00000508569.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000506554.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000514028.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000504921.2_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000514015.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000539796.1_Frame_Shift_Ins_p.P90fs			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C						apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AAGTTGGGAGGTGGAACAGCCT	0.45										HNSCC(66;0.2)			False	0	False	5:88047851	0	AACCATT	88047852	-	AACCATT	88047851	6	5	87	1	0	1	1	0	0	0	0	0	9524	1261	44	0		0	MEF2C	5	88047851	Translation_Start_Site	INS	-	TCGA-IB-7649-01A-11D-2154-08	9022311	88047851	92867409	44	7590											
GPR98	84059	broad.mit.edu	37	chr5	90086832	90086833	+	Frame_Shift_Ins	INS	-	-	AAACTCAACAAAG													gtacctgagatagaggaagaINSttatgtgatccagcttgttt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:90086832_90086833insAAACTCAACAAAG	ENST00000405460.2	+	70	14282_14283	c.14186_14187insAAACTCAACAAAG	c.(14185-14190)gattatfs	p.DY4729fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.DY390fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4729	Calx-beta 32.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATAGAGGAAGATTATGTGATCC	0.441													False	0	False	5:90086832	0	AAACTCAACAAAG	90086833	-	AAACTCAACAAAG	90086832	7	5	87	1	0	1	1	0	0	0	0	0	6768	333	12	0	14464	0	GPR98	5	90086832	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	2038981	90086832	90828428	45	7591											
GPR98	84059	broad.mit.edu	37	chr5	90149273	90149274	+	Frame_Shift_Ins	INS	-	-	TTTG													ggctgggaaaagtacatgtaINSaattagtccagtttacagag							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:90149273_90149274insTTTG	ENST00000405460.2	+	80	17473_17474	c.17377_17378insTTTG	c.(17377-17379)aaafs	p.K5793fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.K1454fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5793					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGTACATGTAAATTAGTCCAG	0.376													False	0	True	5:90149273	0	TTTG	90149274	-	TTTG	90149273	7	5	87	1	0	1	1	0	0	0	0	0	6768	363	13	0	17695	0	GPR98	5	90149273	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	62441	90149273	90765987	46	7592											
MAN2A1	4124	broad.mit.edu	37	chr5	109190936	109190938	+	In_Frame_Del	DEL	CTC	CTC	-													attccaatggcaaataagttCtcctcacctacccttgagct					rs72545030		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:109190936_109190938delCTC	ENST00000261483.4	+	20	4124_4126	c.3072_3074delCTC	c.(3070-3075)ttctcc>ttc	p.S1026del	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1026				Missing (in Ref. 2; BAA10017).	mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CAAATAAGTTCTCCTCACCTACC	0.404													False	2	False	5:109190936	0	-	109190938	CTC	-	109190936	7	5	87	1	0	1	0	1	0	0	0	0	9281	912	32	0	3150	0	MAN2A1	5	109190936	In_Frame_Del	DEL	CTC	TCGA-IB-7649-01A-11D-2154-08	19041663	109190936	71724324	47	7593											
WDR36	134430	broad.mit.edu	37	chr5	110428230	110428230	+	Frame_Shift_Del	DEL	G	G	-													ccttgggacttttcagcaacGacattccacacgtggtgcgg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:110428230delG	ENST00000513710.2	+	1	248	c.244delG	c.(244-246)gacfs	p.D82fs	WDR36_ENST00000506538.2_Frame_Shift_Del_p.D82fs|WDR36_ENST00000505303.1_Frame_Shift_Del_p.D26fs			Q8NI36	WDR36_HUMAN	WD repeat domain 36	82					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTTCAGCAACGACATTCCACA	0.597													False	1	False	5:110428230	0	-	110428230	G	-	110428230	7	5	87	1	0	1	0	1	0	0	0	0	17374	1058	37	0	246	0	WDR36	5	110428230	Frame_Shift_Del	DEL	G	TCGA-IB-7649-01A-11D-2154-08	1237294	110428230	70487030	48	7594											
PCDHGA2	0	broad.mit.edu	37	chr5	140720422	140720422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacgggcgaggtgcgcacGgcgcgagccctgctggacag	17	14	0	0			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:140720422G>A	ENST00000394576.2	+	1	1884	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.T628T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.682													False	0	False	5:140720422	0	A	140720422	G	A	140720422	2	1	87	1	0	0	0	0	0	0	0	1	11622	1103	39	1		1	PCDHGA2	5	140720422	Silent	SNP	G	TCGA-IB-7649-01A-11D-2154-08	30292192	140720422	40194838	49	7595											
HMMR	3161	broad.mit.edu	37	chr5	162902670	162902671	+	Frame_Shift_Ins	INS	-	-	AA													taaaactcctagaagaaaagINSctgaaagggtttgtattaat							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:162902670_162902671insAA	ENST00000416990.2	+	11	1412_1413	c.915_916insAA	c.(916-918)ctgfs	p.L306fs	HMMR_ENST00000432118.2_Frame_Shift_Ins_p.L334fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.L421fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.L405fs|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.L420fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	420						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TAGAAGAAAAGCTGAAAGGGTT	0.337													False	0	False	5:162902670	0	AA	162902671	-	AA	162902670	7	5	87	1	0	1	1	0	0	0	0	0	7289	962	34	0	1302	0	HMMR	5	162902670	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	22182248	162902670	18012590	50	7596											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	87	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-7649-01A-11D-2154-08		7393450	163721617	51	7597											
TXNDC5	81567	broad.mit.edu	37	chr6	7886278	7886279	+	Splice_Site	INS	-	-	TCAGAC													gagtgccaacacagtgccctINStcaagggaggaaaaagccac							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:7886278_7886279insTCAGAC	ENST00000379757.4	-	8	1001		c.e8-2		BLOC1S5-TXNDC5_ENST00000539054.1_Splice_Site|TXNDC5_ENST00000473453.1_Splice_Site|BLOC1S5-TXNDC5_ENST00000604490.1_Splice_Site	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)						anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CACAGTGCCCTTCAAGGGAGGA	0.411													False	0	False	6:7886278	0	TCAGAC	7886279	-	TCAGAC	7886278	8	5	87	1	0	1	1	0	0	0	1	0	16883	1623	56	0	348	0	TXNDC5	6	7886278	Splice_Site	INS	-	TCGA-IB-7649-01A-11D-2154-08	492828	7886278	163228789	52	7598											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100336	27100336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaaaatgtcgttcacaaacGaattcatgatgcccatggcc	8	11	2	1			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:27100336G>A	ENST00000607124.1	-	1	193	c.194C>T	c.(193-195)tCg>tTg	p.S65L	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.S65L|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.S65L			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GTTCACAAACGAATTCATGAT	0.562													False	0	False	6:27100336	0	A	27100336	G	A	27100336	3	1	87	1	0	0	0	0	1	0	0	0	7196	1059	37	1	190	1	HIST1H2BJ	6	27100336	Missense_Mutation	SNP	G	TCGA-IB-7649-01A-11D-2154-08	19214058	27100336	144014731	53	7599											
CCHCR1	54535	broad.mit.edu	37	chr6	31124720	31124721	+	Splice_Site	INS	-	-	TAAACT													ggggaatcagcccagtggaaINScctgaagaattacaaaaaca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:31124720_31124721insTAAACT	ENST00000396268.3	-	3	472_473	c.284_285insAGTTTA	c.(283-285)ggt>ggAGTTTAt	p.95_96insVY	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Intron|CCHCR1_ENST00000376266.5_Splice_Site_p.6_7insVY|CCHCR1_ENST00000396263.2_Splice_Site_p.6_7insVY	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	6					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GCCCAGTGGAACCTGAAGAATT	0.54													False	0	False	6:31124720	0	TAAACT	31124721	-	TAAACT	31124720	8	5	87	1	0	1	1	0	0	0	1	0	2898	57	2	0	2394	0	CCHCR1	6	31124720	Splice_Site	INS	-	TCGA-IB-7649-01A-11D-2154-08	4024384	31124720	139990347	54	7600											
BEND6	221336	broad.mit.edu	37	chr6	56882101	56882102	+	Frame_Shift_Ins	INS	-	-	ATGTCAACATT													actttacacaaatgaatacaINStggccactcacagcctgaca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:56882101_56882102insATGTCAACATT	ENST00000370746.3	+	5	885_886	c.616_617insATGTCAACATT	c.(616-618)atgfs	p.M206fs	BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Frame_Shift_Ins_p.M108fs|BEND6_ENST00000484701.1_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	206	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AAATGAATACATGGCCACTCAC	0.391													False	0	False	6:56882101	0	ATGTCAACATT	56882102	-	ATGTCAACATT	56882101	7	5	87	1	0	1	1	0	0	0	0	0	1406	217	8	0	630	0	BEND6	6	56882101	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	25757381	56882101	114232966	55	7601											
PHF3	23469	broad.mit.edu	37	chr6	64404614	64404615	+	In_Frame_Ins	INS	-	-	TTGTTTTTTAAG													aaaaaataccgaaagagtctINSacaactgttacttgcacagg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:64404614_64404615insTTGTTTTTTAAG	ENST00000262043.3	+	6	2980_2981	c.2640_2641insTTGTTTTTTAAG	c.(2641-2643)aca>TTGTTTTTTAAGaca	p.880_881insLFFK	PHF3_ENST00000393387.1_In_Frame_Ins_p.880_881insLFFK			Q92576	PHF3_HUMAN	PHD finger protein 3	880					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CGAAAGAGTCTACAACTGTTAC	0.327													False	0	False	6:64404614	0	TTGTTTTTTAAG	64404615	-	TTGTTTTTTAAG	64404614	7	5	87	1	0	1	1	0	0	0	0	0	11905	1509	53	0	2658	0	PHF3	6	64404614	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	7522513	64404614	106710453	56	7602											
HTR1B	3351	broad.mit.edu	37	chr6	78172557	78172557	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttcggccttagcctgAcgccagaagaagggcggcag	13	13	1	3			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:78172557A>C	ENST00000369947.2	-	1	933	c.564T>G	c.(562-564)cgT>cgG	p.R188R		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	188					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CCTTAGCCTGACGCCAGAAGA	0.587													False	0	False	6:78172557	0	C	78172557	A	C	78172557	2	2	87	1	0	0	0	0	0	0	0	1	7487	262	10	4		4	HTR1B	6	78172557	Silent	SNP	A	TCGA-IB-7649-01A-11D-2154-08	13767943	78172557	92942510	57	7603											
KPNA5	3841	broad.mit.edu	37	chr6	117010618	117010619	+	Splice_Site	INS	-	-	CAACAA													caaaaaagagaagaacaggtINSaggtgtttttagctatttaa							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:117010618_117010619insCAACAA	ENST00000368564.1	+	2	286		c.e2+2		KPNA5_ENST00000356348.1_Splice_Site			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)						NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GAAGAACAGGTAGGTGTTTTTA	0.257													False	0	True	6:117010618	0	CAACAA	117010619	-	CAACAA	117010618	8	5	87	1	0	1	1	0	0	0	1	0	8483	1652	57	0	146	0	KPNA5	6	117010618	Splice_Site	INS	-	TCGA-IB-7649-01A-11D-2154-08	38838061	117010618	54104449	58	7604											
GPRC6A	0	broad.mit.edu	37	chr6	117116998	117116999	+	Splice_Site	DEL	GC	GC	-													ggagcatttagattgaatttGctatattaaaagtgaaaaaa					rs78807485		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:117116998_117116999delGC	ENST00000310357.3	-	5	1570	c.1549delGC	c.(1549-1551)gca>ca	p.A517fs	GPRC6A_ENST00000530250.1_Splice_Site_p.A342fs|GPRC6A_ENST00000368549.3_Splice_Site_p.A446fs	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	517					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GATTGAATTTGCTATATTAAAA	0.302													False	1	False	6:117116998	0	-	117116999	GC	-	117116998	8	5	87	1	0	1	0	1	0	0	1	0	6775	1333	46	0	1239	0	GPRC6A	6	117116998	Splice_Site	DEL	GC	TCGA-IB-7649-01A-11D-2154-08	106380	117116998	53998069	59	7605											
MOXD1	26002	broad.mit.edu	37	chr6	132695878	132695879	+	Frame_Shift_Ins	INS	-	-	TCTTTAAAGAATAAGAGAAACAAGTCATATAG													gatggtaatcttgctgagcaINStcttttttcaactctctatt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:132695878_132695879insTCTTTAAAGAATAAGAGAAACAAGTCATATAG	ENST00000367963.3	-	2	420_421	c.302_303insCTATATGACTTGTTTCTCTTATTCTTTAAAGA	c.(301-303)gatfs	p.-101fs	MOXD1_ENST00000336749.3_Frame_Shift_Ins_p.-33fs	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1						catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CTTGCTGAGCATCTTTTTTCAA	0.327													False	0	False	6:132695878	0	TCTTTAAAGAATAAGAGAAACAAGTCATATAG	132695879	-	TCTTTAAAGAATAAGAGAAACAAGTCATATAG	132695878	7	5	87	1	0	1	1	0	0	0	0	0	9787	214	8	0	1582	0	MOXD1	6	132695878	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	15578880	132695878	38419189	60	7606											
LTV1	84946	broad.mit.edu	37	chr6	144184385	144184386	+	Frame_Shift_Ins	INS	-	-	TTCGAATTTGTTTGGGCTGAAATACAGAT													aaatgaaagcaaagaagataINSaaagagcaagaaagcaagct							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:144184385_144184386insTTCGAATTTGTTTGGGCTGAAATACAGAT	ENST00000367576.5	+	10	1413_1414	c.1279_1280insTTCGAATTTGTTTGGGCTGAAATACAGAT	c.(1279-1281)aaafs	p.K427fs		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	427										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		CAAAGAAGATAAAAGAGCAAGA	0.356													False	0	True	6:144184385	0	TTCGAATTTGTTTGGGCTGAAATACAGAT	144184386	-	TTCGAATTTGTTTGGGCTGAAATACAGAT	144184385	7	5	87	1	0	1	1	0	0	0	0	0	9143	363	13	0	1317	0	LTV1	6	144184385	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	11488507	144184385	26930682	61	7607											
AKAP12	9590	broad.mit.edu	37	chr6	151670330	151670332	+	In_Frame_Del	DEL	AGG	AGG	-													gtggaggaatgcaaagaggaAggagaagagaaacaagaaaa					rs111653642		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:151670330_151670332delAGG	ENST00000253332.1	+	3	993_995	c.804_806delAGG	c.(802-807)gaagga>gaa	p.G269del	AKAP12_ENST00000354675.6_In_Frame_Del_p.G171del|AKAP12_ENST00000359755.5_In_Frame_Del_p.G164del|AKAP12_ENST00000402676.2_In_Frame_Del_p.G269del			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	269	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCAAAGAGGAAGGAGAAGAGAAA	0.478													False	1	True	6:151670330	0	-	151670332	AGG	-	151670330	7	5	87	1	0	1	0	1	0	0	0	0	448	69	3	0	843	0	AKAP12	6	151670330	In_Frame_Del	DEL	AGG	TCGA-IB-7649-01A-11D-2154-08	7485945	151670330	19444737	62	7608											
LPA	4018	broad.mit.edu	37	chr6	161020669	161020670	+	Frame_Shift_Ins	INS	-	-	ATAAGCGAAGGAAGGG													ggtagtagcagtcctgtaccINSccgggggtttcctcagtcag							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:161020669_161020670insATAAGCGAAGGAAGGG	ENST00000316300.5	-	20	3193_3194	c.3149_3150insCCCTTCCTTCGCTTAT	c.(3148-3150)gggfs	p.-1050fs	LPA_ENST00000447678.1_Frame_Shift_Ins_p.-1050fs			P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTCCTGTACCCCGGGGGTTTC	0.436													False	0	True	6:161020669	0	ATAAGCGAAGGAAGGG	161020670	-	ATAAGCGAAGGAAGGG	161020669	7	5	87	1	0	1	1	0	0	0	0	0	8965	610	22	0	3052	0	LPA	6	161020669	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	9350339	161020669	10094398	63	7609											
PLG	5340	broad.mit.edu	37	chr6	161174080	161174083	+	Frame_Shift_Del	DEL	TGAG	TGAG	-													tacttggattgagggagtgaTgagaaataattaattggacg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TGAG	TGAG	-	-	TGAG	TGAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:161174080_161174083delTGAG	ENST00000308192.9	+	19	2483_2486	c.2420_2423delTGAG	c.(2419-2424)atgagafs	p.MR807fs		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	807	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAGGGAGTGATGAGAAATAATTAA	0.471													False	1	False	6:161174080	0	-	161174083	TGAG	-	161174080	7	5	87	1	0	1	0	1	0	0	0	0	12155	1464	51	0	2498	0	PLG	6	161174080	Frame_Shift_Del	DEL	TGAG	TCGA-IB-7649-01A-11D-2154-08	153411	161174080	9940987	64	7610											
MPP6	51678	broad.mit.edu	37	chr7	24690269	24690270	+	Frame_Shift_Ins	INS	-	-	AGAAACAGATTTC													acaagaattactgaaaaataINSttagtggaagtgtcacccta							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:24690269_24690270insAGAAACAGATTTC	ENST00000396475.2	+	6	888_889	c.589_590insAGAAACAGATTTC	c.(589-591)attfs	p.I197fs	MPP6_ENST00000409761.1_Frame_Shift_Ins_p.I85fs|MPP6_ENST00000222644.4_Frame_Shift_Ins_p.I197fs	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	197	PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ACTGAAAAATATTAGTGGAAGT	0.317													False	0	False	7:24690269	0	AGAAACAGATTTC	24690270	-	AGAAACAGATTTC	24690269	7	5	87	1	0	1	1	0	0	0	0	0	9805	449	16	0	603	0	MPP6	7	24690269	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08		24690269	134448394	65	7611											
STEAP4	79689	broad.mit.edu	37	chr7	87910338	87910339	+	Frame_Shift_Ins	INS	-	-	TTAAAAATTCAAATTA													gtattcccaaagccacatatINSgaatcactgagccaggctga							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:87910338_87910339insTTAAAAATTCAAATTA	ENST00000380079.4	-	4	1141_1142	c.1040_1041insTAATTTGAATTTTTAA	c.(1039-1041)tcafs	p.-347fs	AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Frame_Shift_Ins_p.-171fs|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4						fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AAGCCACATATGAATCACTGAG	0.386													False	0	False	7:87910338	0	TTAAAAATTCAAATTA	87910339	-	TTAAAAATTCAAATTA	87910338	7	5	87	1	0	1	1	0	0	0	0	0	15362	1451	51	0	346	0	STEAP4	7	87910338	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	63220069	87910338	71228325	66	7612											
SLC26A3	1811	broad.mit.edu	37	chr7	107432381	107432382	+	Frame_Shift_Ins	INS	-	-	CACATTGTTTTTTCCTTATG													cgaccagcagagcaaatgctINSaaacctgtaaacacacaagc							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:107432381_107432382insCACATTGTTTTTTCCTTATG	ENST00000340010.5	-	4	459_460	c.275_276insCATAAGGAAAAAACAATGTG	c.(274-276)ttafs	p.L92fs	SLC26A3_ENST00000422236.2_Frame_Shift_Ins_p.L57fs	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	92					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.L92S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAGCAAATGCTAAACCTGTAAA	0.421													False	0	True	7:107432381	0	CACATTGTTTTTTCCTTATG	107432382	-	CACATTGTTTTTTCCTTATG	107432381	7	5	87	1	0	1	1	0	0	0	0	0	14598	1519	53	0	2090	0	SLC26A3	7	107432381	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	19522043	107432381	51706282	67	7613											
LAMB4	22798	broad.mit.edu	37	chr7	107689949	107689950	+	Frame_Shift_Ins	INS	-	-	ATCCA													agcagatgatgatatgtgatINSaatatttcttgatgttttct							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:107689949_107689950insATCCA	ENST00000388781.3	-	27	4026_4027	c.3943_3944insTGGAT	c.(3943-3945)tatfs	p.Y1315fs	LAMB4_ENST00000388780.3_Frame_Shift_Ins_p.Y1315fs|LAMB4_ENST00000205386.4_Frame_Shift_Ins_p.Y1315fs	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1315	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGATATGTGATAATATTTCTTG	0.277													False	0	False	7:107689949	0	ATCCA	107689950	-	ATCCA	107689949	7	5	87	1	0	1	1	0	0	0	0	0	8664	1406	49	0	1373	0	LAMB4	7	107689949	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	257568	107689949	51448714	68	7614											
WDR91	29062	broad.mit.edu	37	chr7	134879811	134879811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatctacgtctaagctggCgactctcctcccagagcagt	8	16	3	1			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:134879811C>T	ENST00000354475.4	-	9	1301	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T	WDR91_ENST00000344400.5_Missense_Mutation_p.A424T|WDR91_ENST00000423565.1_Missense_Mutation_p.A389T	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	424										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCTAAGCTGGCGACTCTCCTC	0.527													False	0	False	7:134879811	0	T	134879811	C	T	134879811	3	4	87	1	0	0	0	0	1	0	0	0	17422	768	27	1	1001	1	WDR91	7	134879811	Missense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08	27189862	134879811	24258852	69	7615											
CYP7A1	1581	broad.mit.edu	37	chr8	59404129	59404129	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtccaaaggtggacatttagCttggccctctataagctcca	9	11	1	0			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:59404129C>G	ENST00000301645.3	-	6	1557	c.1420G>C	c.(1420-1422)Gct>Cct	p.A474P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	474					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGACATTTAGCTTGGCCCTCT	0.388									Neonatal Giant Cell Hepatitis				False	0	False	8:59404129	0	G	59404129	C	G	59404129	3	3	87	1	0	0	0	0	1	0	0	0	4221	797	28	5	98	5	CYP7A1	8	59404129	Missense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08		59404129	86959893	70	7616											
SDCBP	6386	broad.mit.edu	37	chr8	59490601	59490601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttattatctagggtatatttGttcagctagtccaggctaat	8	6	2	0			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:59490601G>T	ENST00000523483.1	+	7	1986	c.472G>T	c.(472-474)Gtt>Ttt	p.V158F	SDCBP_ENST00000413219.2_Missense_Mutation_p.V138F|SDCBP_ENST00000422546.2_Missense_Mutation_p.V137F|SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000424270.2_Missense_Mutation_p.V132F|SDCBP_ENST00000447182.2_Missense_Mutation_p.V137F|SDCBP_ENST00000447267.2_Missense_Mutation_p.V84F|SDCBP_ENST00000260130.4_Missense_Mutation_p.V138F			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	138	PDZ 1.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGGTATATTTGTTCAGCTAGT	0.378													False	0	True	8:59490601	0	T	59490601	G	T	59490601	3	4	87	1	0	0	0	0	1	0	0	0	14036	1377	48	3	430	3	SDCBP	8	59490601	Missense_Mutation	SNP	G	TCGA-IB-7649-01A-11D-2154-08	86472	59490601	86873421	71	7617											
EYA1	2138	broad.mit.edu	37	chr8	72211376	72211377	+	Frame_Shift_Ins	INS	-	-	ATATTTTCAATGGTTTCAATGCATT													atggtgtcgttgggctggtgINSttgctgctggtcatataatg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:72211376_72211377insATATTTTCAATGGTTTCAATGCATT	ENST00000340726.3	-	9	1370_1371	c.731_732insAATGCATTGAAACCATTGAAAATAT	c.(730-732)aacfs	p.N244fs	EYA1_ENST00000388743.2_Frame_Shift_Ins_p.N243fs|EYA1_ENST00000303824.7_Frame_Shift_Ins_p.N238fs|EYA1_ENST00000388740.3_Frame_Shift_Ins_p.N211fs|EYA1_ENST00000388742.4_Frame_Shift_Ins_p.N244fs|EYA1_ENST00000388741.2_Frame_Shift_Ins_p.N210fs|EYA1_ENST00000419131.1_Frame_Shift_Ins_p.N239fs	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	244					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTGGGCTGGTGTTGCTGCTGGT	0.495													False	0	False	8:72211376	0	ATATTTTCAATGGTTTCAATGCATT	72211377	-	ATATTTTCAATGGTTTCAATGCATT	72211376	7	5	87	1	0	1	1	0	0	0	0	0	5361	1368	48	0	1086	0	EYA1	8	72211376	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	12720775	72211376	74152646	72	7618											
GDAP1	54332	broad.mit.edu	37	chr8	75275286	75275287	+	In_Frame_Ins	INS	-	-	TTTAAAAAAAATAAATCT													agaagaaatgaagaaaccccINSaggtaggttctcatttatat					rs121908114		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:75275286_75275287insTTTAAAAAAAATAAATCT	ENST00000220822.7	+	5	772_773	c.692_693insTTTAAAAAAAATAAATCT	c.(691-696)ccagaa>ccTTTAAAAAAAATAAATCTagaa	p.231_232PE>PLKKINLE	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_In_Frame_Ins_p.163_164PE>PLKKINLE	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	231	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GAAGAAACCCCAGGTAGGTTCT	0.347													False	0	True	8:75275286	0	TTTAAAAAAAATAAATCT	75275287	-	TTTAAAAAAAATAAATCT	75275286	7	5	87	1	0	1	1	0	0	0	0	0	6351	594	21	0	710	0	GDAP1	8	75275286	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	3063910	75275286	71088736	73	7619											
RUNX1T1	862	broad.mit.edu	37	chr8	93004024	93004025	+	In_Frame_Ins	INS	-	-	CTGAACTTAACTTGA													ggtaggataagccgttatttINSggactgtaccgctggcctgg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:93004024_93004025insCTGAACTTAACTTGA	ENST00000523629.1	-	7	1287_1288	c.833_834insTCAAGTTAAGTTCAG	c.(832-834)cca>ccTCAAGTTAAGTTCAGa	p.278_279insQVKFR	RUNX1T1_ENST00000520724.1_In_Frame_Ins_p.241_242insQVKFR|RUNX1T1_ENST00000436581.2_In_Frame_Ins_p.289_290insQVKFR|RUNX1T1_ENST00000422361.2_In_Frame_Ins_p.241_242insQVKFR|RUNX1T1_ENST00000396218.1_In_Frame_Ins_p.251_252insQVKFR|RUNX1T1_ENST00000265814.3_In_Frame_Ins_p.278_279insQVKFR|RUNX1T1_ENST00000518844.1_In_Frame_Ins_p.251_252insQVKFR|RUNX1T1_ENST00000360348.2_In_Frame_Ins_p.241_242insQVKFR	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	278					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGCCGTTATTTGGACTGTACCG	0.52													False	0	True	8:93004024	0	CTGAACTTAACTTGA	93004025	-	CTGAACTTAACTTGA	93004024	7	5	87	1	0	1	1	0	0	0	0	0	13826	1799	63	0	1004	0	RUNX1T1	8	93004024	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	17728738	93004024	53359998	74	7620											
OXR1	55074	broad.mit.edu	37	chr8	107726158	107726159	+	Frame_Shift_Ins	INS	-	-	TAAATCTT													atagtagtaaaaaagattgaINSggagtctgaaacaattgagg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:107726158_107726159insTAAATCTT	ENST00000517566.2	+	10	2039_2040	c.1901_1902insTAAATCTT	c.(1900-1905)gaggagfs	p.EE634fs	OXR1_ENST00000445937.1_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000531443.1_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000442977.2_Frame_Shift_Ins_p.EE635fs|OXR1_ENST00000312046.6_Frame_Shift_Ins_p.EE627fs|OXR1_ENST00000452423.2_Frame_Shift_Ins_p.EE124fs	NM_001198533.1	NP_001185462.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	635					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAGATTGAGGAGTCTGAAA	0.361													False	0	False	8:107726158	0	TAAATCTT	107726159	-	TAAATCTT	107726158	7	5	87	1	0	1	1	0	0	0	0	0	11402	304	11	0	2142	0	OXR1	8	107726158	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	14722134	107726158	38637864	75	7621											
MTBP	27085	broad.mit.edu	37	chr8	121500556	121500557	+	Frame_Shift_Ins	INS	-	-	ATTATCTTGTTAAGTAT													gaaagatgaaaacaaagacaINSgaagaagccaaattgagtaa							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:121500556_121500557insATTATCTTGTTAAGTAT	ENST00000305949.1	+	12	1368_1369	c.1323_1324insATTATCTTGTTAAGTAT	c.(1324-1326)gaafs	p.E442fs		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	442					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAACAAAGACAGAAGAAGCCAA	0.351													False	0	False	8:121500556	0	ATTATCTTGTTAAGTAT	121500557	-	ATTATCTTGTTAAGTAT	121500556	7	5	87	1	0	1	1	0	0	0	0	0	9979	175	7	0	1369	0	MTBP	8	121500556	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	13774398	121500556	24863466	76	7622											
PTK2	5747	broad.mit.edu	37	chr8	141774449	141774450	+	Translation_Start_Site	INS	-	-	AAGTTATTGATACTTACTGTCTTTT													tctgacctcctggtatttcaINStataattaaagtaggcaaag							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:141774449_141774450insAAGTTATTGATACTTACTGTCTTTT	ENST00000519465.1	-	0	172_173				PTK2_ENST00000521059.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000520151.1_Start_Codon_Ins|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000517887.1_Intron			Q05397	FAK1_HUMAN	protein tyrosine kinase 2						axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTGGTATTTCATATAATTAAAG	0.327													False	0	False	8:141774449	0	AAGTTATTGATACTTACTGTCTTTT	141774450	-	AAGTTATTGATACTTACTGTCTTTT	141774449	6	5	87	1	0	1	1	0	0	0	0	0	12839	232	8	0		0	PTK2	8	141774449	Translation_Start_Site	INS	-	TCGA-IB-7649-01A-11D-2154-08	20273893	141774449	4589573	77	7623											
CDKN2A	1029	broad.mit.edu	37	chr9	21971010	21971026	+	Frame_Shift_Del	DEL	GTCCACGGGCAGACGGC	GTCCACGGGCAGACGGC	-													tggcccagctcctcagccagGtccacgggcagacggcccca					rs104894104		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GTCCACGGGCAGACGGC	GTCCACGGGCAGACGGC	-	-	GTCCACGGGCAGACGGC	GTCCACGGGCAGACGGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:21971010_21971026delGTCCACGGGCAGACGGC	ENST00000479692.2	-	2	193_209	c.179_195delGCCGTCTGCCCGTGGAC	c.(178-195)ggccgtctgcccgtggacfs	p.GRLPVD60fs	CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.PSARGP167fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.PSARGP126fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.PSARGP126fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.GRLPVD60fs|RP11-145E5.5_ENST00000404796.2_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	111			A -> T.|A -> V (in melanoma; loss of CDK4 binding; dbSNP:rs36204594).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.P114L(27)|p.R112G(4)|p.V115L(4)|p.G111G(3)|p.P114H(3)|p.D116Y(2)|p.P114S(2)|p.H83fs*2(2)|p.D116V(1)|p.V115fs*11(1)|p.A169A(1)|p.R107fs*33(1)|p.D116N(1)|p.P167S(1)|p.R112S(1)|p.R112P(1)|p.A68fs*3(1)|p.G111D(1)|p.D105fs*8(1)|p.0(1)|p.L113L(1)|p.L113M(1)|p.L113P(1)|p.R170L(1)|p.V115fs*3(1)|p.P114P(1)|p.R112fs*32(1)|p.V115E(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCAGCCAGGTCCACGGGCAGACGGCCCCAGGCATC	0.728	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	1	True	9:21971010	0	-	21971026	GTCCACGGGCAGACGGC	-	21971010	7	5	87	1	0	1	0	1	0	0	0	0	3184	1261	44	0	130	0	CDKN2A	9	21971010	Frame_Shift_Del	DEL	GTCCACGGGCAGACGGC	TCGA-IB-7649-01A-11D-2154-08		21971010	119242421	78	7624											
IL15RA	3601	broad.mit.edu	37	chr10	6002418	6002419	+	Translation_Start_Site	INS	-	-	TATACCATCA													gggaggactcatgactgcttINSatctctgtggttcctgtgga							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:6002418_6002419insTATACCATCA	ENST00000534292.1	-	0	674_675				IL15RA_ENST00000397250.2_Frame_Shift_Ins_p.I67fs|IL15RA_ENST00000397248.2_Frame_Shift_Ins_p.I129fs|IL15RA_ENST00000530685.1_Frame_Shift_Ins_p.I132fs|IL15RA_ENST00000525219.2_Frame_Shift_Ins_p.I129fs|IL15RA_ENST00000379971.1_Frame_Shift_Ins_p.I67fs|IL15RA_ENST00000379977.3_Frame_Shift_Ins_p.I165fs|IL15RA_ENST00000528354.1_Frame_Shift_Ins_p.I132fs|IL15RA_ENST00000397255.3_Frame_Shift_Ins_p.I165fs|IL15RA_ENST00000397251.3_Frame_Shift_Ins_p.I100fs			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha						cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CATGACTGCTTATCTCTGTGGT	0.574													False	0	False	10:6002418	0	TATACCATCA	6002419	-	TATACCATCA	6002418	6	5	87	1	0	1	1	0	0	0	0	0	7682	1744	61	0		0	IL15RA	10	6002418	Translation_Start_Site	INS	-	TCGA-IB-7649-01A-11D-2154-08		6002418	129532329	79	7625											
DHTKD1	55526	broad.mit.edu	37	chr10	12143173	12143179	+	Splice_Site	DEL	TTCTAGA	TTCTAGA	-													ggacccaaatcagaaggggtTtctagaggtgagatgtttct							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TTCTAGA	TTCTAGA	-	-	TTCTAGA	TTCTAGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:12143173_12143179delTTCTAGA	ENST00000263035.4	+	10	1951_1957	c.1889_1895delTTCTAGA	c.(1888-1896)tttctagag>tg	p.FLE630fs		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	630					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CAGAAGGGGTTTCTAGAGGTGAGATGT	0.478													False	1	False	10:12143173	0	-	12143179	TTCTAGA	-	12143173	8	5	87	1	0	1	0	1	0	0	1	0	4530	1841	64	0	1927	0	DHTKD1	10	12143173	Splice_Site	DEL	TTCTAGA	TCGA-IB-7649-01A-11D-2154-08	6140755	12143173	123391574	80	7626											
BEND7	222389	broad.mit.edu	37	chr10	13534699	13534699	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cggctgcctggagagcagatAgctcagaggccaccaccgac	13	14	1	3			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:13534699A>T	ENST00000341083.3	-	5	889	c.593T>A	c.(592-594)cTa>cAa	p.L198Q	BEND7_ENST00000396898.2_Missense_Mutation_p.L263Q|BEND7_ENST00000378605.3_Missense_Mutation_p.L211Q|BEND7_ENST00000396900.2_Missense_Mutation_p.L250Q	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	250							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GAGAGCAGATAGCTCAGAGGC	0.522													False	0	False	10:13534699	0	T	13534699	A	T	13534699	3	4	87	1	0	0	0	0	1	0	0	0	1407	420	15	5	845	5	BEND7	10	13534699	Missense_Mutation	SNP	A	TCGA-IB-7649-01A-11D-2154-08	1391526	13534699	122000048	81	7627											
CUBN	8029	broad.mit.edu	37	chr10	17107592	17107593	+	Frame_Shift_Ins	INS	-	-	AGCTATA													caaacaccagcatcaatgagINSttaccactgcttgtgagaga							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:17107592_17107593insAGCTATA	ENST00000377833.4	-	22	3118_3119	c.3053_3054insTATAGCT	c.(3052-3054)aacfs	p.-1018fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCATCAATGAGTTACCACTGCT	0.411													False	0	False	10:17107592	0	AGCTATA	17107593	-	AGCTATA	17107592	7	5	87	1	0	1	1	0	0	0	0	0	4076	1020	36	0	8001	0	CUBN	10	17107592	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	3572893	17107592	118427155	82	7628	134	2									
CUBN	8029	broad.mit.edu	37	chr10	17107594	17107595	+	Frame_Shift_Ins	INS	-	-	TAGAATA													aacaccagcatcaatgagttINSaccactgcttgtgagagatg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:17107594_17107595insTAGAATA	ENST00000377833.4	-	22	3116_3117	c.3051_3052insTATTCTA	c.(3049-3054)ggtaacfs	p.N1018fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1018	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCAATGAGTTACCACTGCTTG	0.416													False	0	False	10:17107594	0	TAGAATA	17107595	-	TAGAATA	17107594	7	5	87	1	0	1	1	0	0	0	0	0	4076	1754	61	0	8003	0	CUBN	10	17107594	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	2	17107594	118427153	83	7629	134	2									
SLC29A3	55315	broad.mit.edu	37	chr10	73115969	73115969	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgctctgcatgggactcTacctgctgctgtccaggctg	12	13	2	0			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:73115969T>C	ENST00000373189.5	+	5	794	c.742T>C	c.(742-744)Tac>Cac	p.Y248H	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	248					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CATGGGACTCTACCTGCTGCT	0.557													False	0	False	10:73115969	0	C	73115969	T	C	73115969	3	2	87	1	0	0	0	0	1	0	0	0	14616	1522	53	4	760	4	SLC29A3	10	73115969	Missense_Mutation	SNP	T	TCGA-IB-7649-01A-11D-2154-08	56008375	73115969	62418778	84	7630											
BTAF1	9044	broad.mit.edu	37	chr10	93711219	93711219	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aattattacagaagaaacttGgccttaatatgggagaagca	9	5	0	3			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:93711219G>C	ENST00000265990.6	+	5	768	c.460G>C	c.(460-462)Ggc>Cgc	p.G154R		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	154					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAGAAACTTGGCCTTAATAT	0.363													False	0	False	10:93711219	0	C	93711219	G	C	93711219	3	2	87	1	0	0	0	0	1	0	0	0	1543	1348	47	5	478	5	BTAF1	10	93711219	Missense_Mutation	SNP	G	TCGA-IB-7649-01A-11D-2154-08	20595250	93711219	41823528	85	7631											
PPRC1	23082	broad.mit.edu	37	chr10	103907072	103907073	+	In_Frame_Ins	INS	-	-	TCC													accggactagcgaagcatctINStcctcatcctcatcatcgtc							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:103907072_103907073insTCC	ENST00000278070.2	+	9	4362_4363	c.4323_4324insTCC	c.(4324-4326)tcc>TCCtcc	p.1442_1442S>SS	PPRC1_ENST00000370012.1_In_Frame_Ins_p.409_409S>SS|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1442	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCGAAGCATCTTCCTCATCCTC	0.629													False	1	False	10:103907072	0	TCC	103907073	-	TCC	103907072	7	5	87	1	0	1	1	0	0	0	0	0	12484	1596	56	0	4357	0	PPRC1	10	103907072	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	10195853	103907072	31627675	86	7632											
SMC3	9126	broad.mit.edu	37	chr10	112361496	112361497	+	In_Frame_Ins	INS	-	-	TACCTATAAAGCCAGTGTTAT													agaacatatggatgctataaINSatcatgatactaaagaactg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:112361496_112361497insTACCTATAAAGCCAGTGTTAT	ENST00000361804.4	+	24	2872_2873	c.2746_2747insTACCTATAAAGCCAGTGTTAT	c.(2746-2748)aat>aTACCTATAAAGCCAGTGTTATat	p.916_916N>IPIKPVLY		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	916					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGATGCTATAAATCATGATACT	0.356													False	0	True	10:112361496	0	TACCTATAAAGCCAGTGTTAT	112361497	-	TACCTATAAAGCCAGTGTTAT	112361496	7	5	87	1	0	1	1	0	0	0	0	0	14864	14	1	0	2840	0	SMC3	10	112361496	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	8454424	112361496	23173251	87	7633											
WDR11	55717	broad.mit.edu	37	chr10	122624718	122624719	+	Frame_Shift_Ins	INS	-	-	ATATCAGACCTAATAAAAGA													aacgcacaggagttccatttINSttacaggtatctacaattca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:122624718_122624719insATATCAGACCTAATAAAAGA	ENST00000263461.6	+	6	1119_1120	c.873_874insATATCAGACCTAATAAAAGA	c.(874-876)ttafs	p.L292fs		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	292						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GAGTTCCATTTTTACAGGTATC	0.356													False	0	True	10:122624718	0	ATATCAGACCTAATAAAAGA	122624719	-	ATATCAGACCTAATAAAAGA	122624718	7	5	87	1	0	1	1	0	0	0	0	0	17357	1838	64	0	895	0	WDR11	10	122624718	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	10263222	122624718	12910029	88	7634											
C11orf16	56673	broad.mit.edu	37	chr11	8942889	8942890	+	Frame_Shift_Del	DEL	AT	AT	-													ggaattcttgttccactgacAtattgcaaggctctgactcc					rs10583719		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:8942889_8942890delAT	ENST00000326053.5	-	6	1483_1484	c.1377_1378delAT	c.(1375-1380)atatgtfs	p.IC459fs	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	459										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TTCCACTGACATATTGCAAGGC	0.54													False	2	False	11:8942889	0	-	8942890	AT	-	8942889	7	5	87	1	0	1	0	1	0	0	0	0	1639	217	8	0	29	0	C11orf16	11	8942889	Frame_Shift_Del	DEL	AT	TCGA-IB-7649-01A-11D-2154-08		8942889	126063627	89	7635											
MRVI1	10335	broad.mit.edu	37	chr11	10597887	10597887	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgtgaggtttcctactgctCtgtaggctgctcatgctgga	13	9	2	1			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:10597887C>A	ENST00000547195.1	-	20	2958	c.2458G>T	c.(2458-2460)Gag>Tag	p.E820*	MRVI1_ENST00000424001.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000423302.2_Nonsense_Mutation_p.E911*|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000541483.1_Nonsense_Mutation_p.E705*|MRVI1_ENST00000552103.1_Nonsense_Mutation_p.E820*|MRVI1_ENST00000534266.2_Nonsense_Mutation_p.E596*|MRVI1_ENST00000531107.1_Nonsense_Mutation_p.E903*|MRVI1_ENST00000421747.1_Nonsense_Mutation_p.E902*|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000558540.1_Nonsense_Mutation_p.E596*|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000436272.1_Nonsense_Mutation_p.E884*|MRVI1_ENST00000545852.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000527509.2_Nonsense_Mutation_p.E820*	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	884					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCCTACTGCTCTGTAGGCTGC	0.577													False	0	False	11:10597887	0	A	10597887	C	A	10597887	4	1	87	1	0	0	0	0	0	1	0	0	9920	922	32	3	11	3	MRVI1	11	10597887	Nonsense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08	1654998	10597887	124408629	90	7636											
IGSF22	283284	broad.mit.edu	37	chr11	18737105	18737106	+	In_Frame_Ins	INS	-	-	CCGTAG													agctctgctcgcttgccctcINSatggttcatgctgtacttag							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:18737105_18737106insCCGTAG	ENST00000513874.1	-	11	1543_1544	c.1404_1405insCTACGG	c.(1402-1407)catgag>catCTACGGgag	p.468_469HE>HLRE	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	468	Ig-like 3.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CGCTTGCCCTCATGGTTCATGC	0.545													False	0	False	11:18737105	0	CCGTAG	18737106	-	CCGTAG	18737105	7	5	87	1	0	1	1	0	0	0	0	0	7650	835	29	0	2627	0	IGSF22	11	18737105	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	8139218	18737105	116269411	91	7637											
OR5D16	390144	broad.mit.edu	37	chr11	55606811	55606815	+	Frame_Shift_Del	DEL	ATCTC	ATCTC	-													actctcttaccctgactcttAtctcagccagttgcttcttt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	ATCTC	ATCTC	-	-	ATCTC	ATCTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:55606811_55606815delATCTC	ENST00000378396.1	+	1	584_588	c.584_588delATCTC	c.(583-588)tatctcfs	p.YL195fs		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L196L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCTGACTCTTATCTCAGCCAGTTGC	0.39													False	1	False	11:55606811	0	-	55606815	ATCTC	-	55606811	7	5	87	1	0	1	0	1	0	0	0	0	11224	449	16	0	586	0	OR5D16	11	55606811	Frame_Shift_Del	DEL	ATCTC	TCGA-IB-7649-01A-11D-2154-08	36869706	55606811	79399705	92	7638											
OR5R1	219479	broad.mit.edu	37	chr11	56184985	56184986	+	In_Frame_Ins	INS	-	-	TTGGAT													acagtcaccatatgggagccINSacaggtggaaatggctttgt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:56184985_56184986insTTGGAT	ENST00000312253.1	-	1	722_723	c.723_724insATCCAA	c.(721-726)tgtggc>tgtATCCAAggc	p.241_242CG>CIQG		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATATGGGAGCCACAGGTGGAAA	0.46													False	0	False	11:56184985	0	TTGGAT	56184986	-	TTGGAT	56184985	7	5	87	1	0	1	1	0	0	0	0	0	11248	594	21	0	252	0	OR5R1	11	56184985	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	578174	56184985	78821531	93	7639											
OR5M10	390167	broad.mit.edu	37	chr11	56344850	56344851	+	Frame_Shift_Ins	INS	-	-	ATCAATCATTTCTACT													agcgatccaatgccattgaaINSgcaaggaagtaaaactcagt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:56344850_56344851insATCAATCATTTCTACT	ENST00000526812.2	-	1	412_413	c.347_348insAGTAGAAATGATTGAT	c.(346-348)gctfs	p.-116fs		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATGCCATTGAAGCAAGGAAGTA	0.455													False	0	False	11:56344850	0	ATCAATCATTTCTACT	56344851	-	ATCAATCATTTCTACT	56344850	7	5	87	1	0	1	1	0	0	0	0	0	11241	59	3	0	603	0	OR5M10	11	56344850	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	159865	56344850	78661666	94	7640											
SPTBN2	6712	broad.mit.edu	37	chr11	66468444	66468444	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctcccagccggtctgcacCtctctcagccgggcgttgat	10	17	3	1			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:66468444C>G	ENST00000533211.1	-	17	3457	c.3126G>C	c.(3124-3126)gaG>gaC	p.E1042D	SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1042D|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1042D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1042					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGGTCTGCACCTCTCTCAGCC	0.692													False	0	True	11:66468444	0	G	66468444	C	G	66468444	3	3	87	1	0	0	0	0	1	0	0	0	15202	680	24	5	4134	5	SPTBN2	11	66468444	Missense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08	10123594	66468444	68538072	95	7641											
LRP5	4041	broad.mit.edu	37	chr11	68190978	68190978	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctttgttttgacctctctgAgccaaggccaaaacccagac	7	14	1	3			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:68190978A>T	ENST00000294304.7	+	14	3155	c.3049A>T	c.(3049-3051)Agc>Tgc	p.S1017C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1017	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACCTCTCTGAGCCAAGGCCA	0.587													False	0	False	11:68190978	0	T	68190978	A	T	68190978	3	4	87	1	0	0	0	0	1	0	0	0	9022	304	11	5	3103	5	LRP5	11	68190978	Missense_Mutation	SNP	A	TCGA-IB-7649-01A-11D-2154-08	1722534	68190978	66815538	96	7642											
GAB2	9846	broad.mit.edu	37	chr11	77937956	77937956	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattctgtattgtgccggctCggcttgggaaggctatagaa	13	7	1	1			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:77937956C>T	ENST00000361507.4	-	4	847	c.762G>A	c.(760-762)ccG>ccA	p.P254P	GAB2_ENST00000340149.2_Silent_p.P216P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	254					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TGTGCCGGCTCGGCTTGGGAA	0.572													False	0	True	11:77937956	0	T	77937956	C	T	77937956	2	4	87	1	0	0	0	0	0	0	0	1	6191	871	31	1		1	GAB2	11	77937956	Silent	SNP	C	TCGA-IB-7649-01A-11D-2154-08	9746978	77937956	57068560	97	7643											
ELMOD1	55531	broad.mit.edu	37	chr11	107535878	107535878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagaacccagacatggcGctgtgcccacattttgctgc	10	14	0	2			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:107535878G>A	ENST00000265840.7	+	12	1225	c.960G>A	c.(958-960)gcG>gcA	p.A320A	ELMOD1_ENST00000531234.1_Silent_p.A314A|ELMOD1_ENST00000443271.2_Silent_p.A312A	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	320					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CAGACATGGCGCTGTGCCCAC	0.478													False	0	False	11:107535878	0	A	107535878	G	A	107535878	2	1	87	1	0	0	0	0	0	0	0	1	5100	1074	38	1		1	ELMOD1	11	107535878	Silent	SNP	G	TCGA-IB-7649-01A-11D-2154-08	29597922	107535878	27470638	98	7644											
SIK3	23387	broad.mit.edu	37	chr11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-													ggtattcttgctgttgctgcTgttgctgctgctgctgccgt					rs539858	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596													False	1	True	11:116729011	0	-	116729013	TGT	-	116729011	7	5	87	1	0	1	0	1	0	0	0	0	14400	1580	55	0	955	0	SIK3	11	116729011	In_Frame_Del	DEL	TGT	TCGA-IB-7649-01A-11D-2154-08	9193133	116729011	18277505	99	7645											
RNF214	257160	broad.mit.edu	37	chr11	117117666	117117667	+	Splice_Site	INS	-	-	TATTTTC													ttgtgagaagggcagaaggtINSaactgatgttaagaataaaa							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:117117666_117117667insTATTTTC	ENST00000530849.1	+	5	504		c.e5+2		RNF214_ENST00000300650.4_Splice_Site|RNF214_ENST00000531287.1_Splice_Site|RNF214_ENST00000531452.1_Splice_Site			Q8ND24	RN214_HUMAN	ring finger protein 214								zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GGGCAGAAGGTAACTGATGTTA	0.376													False	0	False	11:117117666	0	TATTTTC	117117667	-	TATTTTC	117117666	8	5	87	1	0	1	1	0	0	0	1	0	13557	1652	57	0	979	0	RNF214	11	117117666	Splice_Site	INS	-	TCGA-IB-7649-01A-11D-2154-08	388655	117117666	17888850	100	7646											
AICDA	57379	broad.mit.edu	37	chr12	8757493	8757494	+	In_Frame_Ins	INS	-	-	GTCTTTTTTGGAGTTTCGTAT													ttctttcgtggttttctacaINSaaagtattccagcagtaaaa					rs104894327		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:8757493_8757494insGTCTTTTTTGGAGTTTCGTAT	ENST00000229335.6	-	4	555_556	c.452_453insATACGAAACTCCAAAAAAGAC	c.(451-453)ttt>ttATACGAAACTCCAAAAAAGACt	p.151_151F>LYETPKKT	AICDA_ENST00000537228.1_Intron	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	151			F -> S (in HIGM2).		B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GGTTTTCTACAAAAGTATTCCA	0.426													False	0	True	12:8757493	0	GTCTTTTTTGGAGTTTCGTAT	8757494	-	GTCTTTTTTGGAGTTTCGTAT	8757493	7	5	87	1	0	1	1	0	0	0	0	0	422	127	5	0	151	0	AICDA	12	8757493	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08		8757493	125094402	101	7647											
KIAA1467	57613	broad.mit.edu	37	chr12	13208626	13208627	+	Frame_Shift_Ins	INS	-	-	AAATATATGG													ttgggagaagcgccagaaccINScgactcagatgctgaggttg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:13208626_13208627insAAATATATGG	ENST00000197268.8	+	2	299_300	c.179_180insAAATATATGG	c.(178-183)cccgacfs	p.D61fs		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	61						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCGCCAGAACCCGACTCAGATG	0.554													False	0	True	12:13208626	0	AAATATATGG	13208627	-	AAATATATGG	13208626	7	5	87	1	0	1	1	0	0	0	0	0	8285	623	22	0	185	0	KIAA1467	12	13208626	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	4451133	13208626	120643269	102	7648											
KRAS	3845	broad.mit.edu	37	chr12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgcactgtactcctcTtgacctgctgtgtcgagaat	8	12	2	2	rs17851045		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:25380275T>G	ENST00000311936.3	-	3	374	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25380275	0	G	25380275	T	G	25380275	3	3	87	1	0	0	0	0	1	0	0	0	8488	1606	56	4	519	4	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-IB-7649-01A-11D-2154-08	12171649	25380275	108471620	103	7649											
LYZ	4069	broad.mit.edu	37	chr12	69742300	69742301	+	Frame_Shift_Ins	INS	-	-	CC													aagattgggaatggatggctINSacaggggaatcagcctagca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:69742300_69742301insCC	ENST00000549690.1	+	1	137_138	c.112_113insCC	c.(112-114)tacfs	p.Y38fs	LYZ_ENST00000548839.1_Frame_Shift_Ins_p.Y38fs|LYZ_ENST00000261267.2_Frame_Shift_Ins_p.Y38fs			P61626	LYSC_HUMAN	lysozyme	38					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AATGGATGGCTACAGGGGAATC	0.465													False	0	False	12:69742300	0	CC	69742301	-	CC	69742300	7	5	87	1	0	1	1	0	0	0	0	0	9193	1522	53	0	114	0	LYZ	12	69742300	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	44362025	69742300	64109595	104	7650	135	2									
LYZ	4069	broad.mit.edu	37	chr12	69742301	69742302	+	In_Frame_Ins	INS	-	-	CCCTTT													agattgggaatggatggctaINScaggggaatcagcctagcaa							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:69742301_69742302insCCCTTT	ENST00000549690.1	+	1	138_139	c.113_114insCCCTTT	c.(112-117)tacagg>taCCCTTTcagg	p.38_39YR>YPFR	LYZ_ENST00000548839.1_In_Frame_Ins_p.38_39YR>YPFR|LYZ_ENST00000261267.2_In_Frame_Ins_p.38_39YR>YPFR			P61626	LYSC_HUMAN	lysozyme	38					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			ATGGATGGCTACAGGGGAATCA	0.465													False	0	False	12:69742301	0	CCCTTT	69742302	-	CCCTTT	69742301	7	5	87	1	0	1	1	0	0	0	0	0	9193	391	14	0	115	0	LYZ	12	69742301	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	1	69742301	64109594	105	7651	135	2									
SYT1	6857	broad.mit.edu	37	chr12	79679720	79679721	+	Frame_Shift_Ins	INS	-	-	GG													gccattaacatgaaagatgtINSaaaagacttagggaagacga							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:79679720_79679721insGG	ENST00000261205.4	+	5	977_978	c.320_321insGG	c.(319-324)gtaaaafs	p.K108fs	SYT1_ENST00000552744.1_Frame_Shift_Ins_p.K108fs|SYT1_ENST00000457153.2_Frame_Shift_Ins_p.K108fs|SYT1_ENST00000393240.3_Frame_Shift_Ins_p.K108fs	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	108					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATGAAAGATGTAAAAGACTTAG	0.302													False	0	True	12:79679720	0	GG	79679721	-	GG	79679720	7	5	87	1	0	1	1	0	0	0	0	0	15547	1638	57	0	326	0	SYT1	12	79679720	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	9937419	79679720	54172175	106	7652	136	2									
SYT1	6857	broad.mit.edu	37	chr12	79679721	79679722	+	Frame_Shift_Ins	INS	-	-	AAACCTTTTAACTCATGGGCTAT													ccattaacatgaaagatgtaINSaaagacttagggaagacgat							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:79679721_79679722insAAACCTTTTAACTCATGGGCTAT	ENST00000261205.4	+	5	978_979	c.321_322insAAACCTTTTAACTCATGGGCTAT	c.(322-324)aaafs	p.-108fs	SYT1_ENST00000552744.1_Frame_Shift_Ins_p.-108fs|SYT1_ENST00000457153.2_Frame_Shift_Ins_p.-108fs|SYT1_ENST00000393240.3_Frame_Shift_Ins_p.-108fs	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I						detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGAAAGATGTAAAAGACTTAGG	0.302													False	0	True	12:79679721	0	AAACCTTTTAACTCATGGGCTAT	79679722	-	AAACCTTTTAACTCATGGGCTAT	79679721	7	5	87	1	0	1	1	0	0	0	0	0	15547	349	13	0	327	0	SYT1	12	79679721	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	1	79679721	54172174	107	7653	136	2									
PRDM4	11108	broad.mit.edu	37	chr12	108145479	108145480	+	Frame_Shift_Ins	INS	-	-	GTCTTTCT													actgagggcactgtcagacaINStgccattgacccgacttgca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:108145479_108145480insGTCTTTCT	ENST00000228437.5	-	5	1297_1298	c.838_839insAGAAAGAC	c.(838-840)atgfs	p.M280fs	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	280					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						ACTGTCAGACATGCCATTGACC	0.545													False	0	False	12:108145479	0	GTCTTTCT	108145480	-	GTCTTTCT	108145479	7	5	87	1	0	1	1	0	0	0	0	0	12535	217	8	0	1598	0	PRDM4	12	108145479	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	28465758	108145479	25706416	108	7654											
NBEA	26960	broad.mit.edu	37	chr13	35883716	35883716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttgcatttattgagctcAtcaatgaaggaaggtaatta	9	5	2	2			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr13:35883716A>G	ENST00000540320.1	+	36	6424	c.5890A>G	c.(5890-5892)Atc>Gtc	p.I1964V	NBEA_ENST00000400445.3_Missense_Mutation_p.I1964V|NBEA_ENST00000379939.2_Missense_Mutation_p.I1961V|NBEA_ENST00000310336.4_Missense_Mutation_p.I1964V			Q8NFP9	NBEA_HUMAN	neurobeachin	1964						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TATTGAGCTCATCAATGAAGG	0.343													False	0	False	13:35883716	0	G	35883716	A	G	35883716	3	3	87	1	0	0	0	0	1	0	0	0	10254	217	8	4	6032	4	NBEA	13	35883716	Missense_Mutation	SNP	A	TCGA-IB-7649-01A-11D-2154-08		35883716	79286162	109	7655											
NEK5	341676	broad.mit.edu	37	chr13	52701739	52701740	+	Translation_Start_Site	INS	-	-	GGGAAATCAGATAGCAAGCACTGTGTCAT													aaagaactcacttagctaaaINSactttcctcccagccttgcc							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr13:52701739_52701740insGGGAAATCAGATAGCAAGCACTGTGTCAT	ENST00000355568.4	-	0	108_109					NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5								ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ACTTAGCTAAAACTTTCCTCCC	0.386													False	0	True	13:52701739	0	GGGAAATCAGATAGCAAGCACTGTGTCAT	52701740	-	GGGAAATCAGATAGCAAGCACTGTGTCAT	52701739	6	5	87	1	0	1	1	0	0	0	0	0	10395	29	1	0		0	NEK5	13	52701739	Translation_Start_Site	INS	-	TCGA-IB-7649-01A-11D-2154-08	16818023	52701739	62468139	110	7656											
MYCBP2	23077	broad.mit.edu	37	chr13	77672728	77672729	+	Frame_Shift_Ins	INS	-	-	CAAAGGATTCTACAGA													tgtcttaacaggagcagtacINSttttttgaggtagattttta							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr13:77672728_77672729insCAAAGGATTCTACAGA	ENST00000544440.2	-	56	8463_8464	c.8446_8447insTCTGTAGAATCCTTTG	c.(8446-8448)agtfs	p.S2816fs	MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Frame_Shift_Ins_p.S2854fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.S2816fs|MYCBP2_ENST00000360084.5_Frame_Shift_Ins_p.S339fs			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGAGCAGTACTTTTTTGAGGT	0.47													False	0	True	13:77672728	0	CAAAGGATTCTACAGA	77672729	-	CAAAGGATTCTACAGA	77672728	7	5	87	1	0	1	1	0	0	0	0	0	10085	565	20	0	5587	0	MYCBP2	13	77672728	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	24970989	77672728	37497150	111	7657											
HAUS4	54930	broad.mit.edu	37	chr14	23417134	23417135	+	In_Frame_Ins	INS	-	-	ACT													tctgctccttctgctggctcINSttggcatcctggcactgctg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:23417134_23417135insACT	ENST00000206474.7	-	7	902_903	c.650_651insAGT	c.(649-651)aag>aaAGTg	p.217_218insV	HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000342454.8_In_Frame_Ins_p.172_173insV|HAUS4_ENST00000541587.1_In_Frame_Ins_p.217_218insV|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000555367.1_In_Frame_Ins_p.172_173insV|HAUS4_ENST00000555986.1_In_Frame_Ins_p.172_173insV|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000490506.1_In_Frame_Ins_p.93_94insV|RP11-298I3.5_ENST00000555074.1_In_Frame_Ins_p.46_47QE>QSE			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	217					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCTGCTGGCTCTTGGCATCCTG	0.559													False	0	False	14:23417134	0	ACT	23417135	-	ACT	23417134	7	5	87	1	0	1	1	0	0	0	0	0	7015	912	32	0	456	0	HAUS4	14	23417134	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08		23417134	83932406	112	7658											
MYH6	4624	broad.mit.edu	37	chr14	23870014	23870014	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgcgcgtcaccatccaGttgaacatcttctcatacac	6	13	3	2			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:23870014G>C	ENST00000405093.3	-	13	1384	c.1314C>G	c.(1312-1314)aaC>aaG	p.N438K	MYH6_ENST00000356287.3_Missense_Mutation_p.N438K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	438	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACCATCCAGTTGAACATCT	0.562													False	0	False	14:23870014	0	C	23870014	G	C	23870014	3	2	87	1	0	0	0	0	1	0	0	0	10105	1020	36	5	4613	5	MYH6	14	23870014	Missense_Mutation	SNP	G	TCGA-IB-7649-01A-11D-2154-08	452880	23870014	83479526	113	7659											
DDHD1	0	broad.mit.edu	37	chr14	53558534	53558534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgataattcttccttggtCcattttctgcccaatgccat	5	11	2	1			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:53558534C>T	ENST00000357758.3	-	4	1441	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	DDHD1_ENST00000323669.5_Missense_Mutation_p.D420N|DDHD1_ENST00000395606.1_Missense_Mutation_p.D427N	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	420					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	p.D420H(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCCTTGGTCCATTTTCTGC	0.363													False	0	False	14:53558534	0	T	53558534	C	T	53558534	3	4	87	1	0	0	0	0	1	0	0	0	4351	855	30	2	1484	2	DDHD1	14	53558534	Missense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08	29688520	53558534	53791006	114	7660											
KIAA0586	9786	broad.mit.edu	37	chr14	58934617	58934618	+	Frame_Shift_Ins	INS	-	-	GAAAAGTCTAATATACCATCTGGATCTTAATGGTTAT													aatgaagtcagaaaaaaaggINSatcctcctcagcttactgtg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:58934617_58934618insGAAAAGTCTAATATACCATCTGGATCTTAATGGTTAT	ENST00000423743.3	+	17	2545_2546	c.2287_2288insGAAAAGTCTAATATACCATCTGGATCTTAATGGTTAT	c.(2287-2289)gatfs	p.D763fs	KIAA0586_ENST00000556134.1_Frame_Shift_Ins_p.D792fs|KIAA0586_ENST00000261244.5_Frame_Shift_Ins_p.D731fs|KIAA0586_ENST00000354386.6_Frame_Shift_Ins_p.D860fs|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	731										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAAAAAAAGGATCCTCCTCAG	0.361													False	0	False	14:58934617	0	GAAAAGTCTAATATACCATCTGGATCTTAATGGTTAT	58934618	-	GAAAAGTCTAATATACCATCTGGATCTTAATGGTTAT	58934617	7	5	87	1	0	1	1	0	0	0	0	0	8236	1174	41	0	2249	0	KIAA0586	14	58934617	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	5376083	58934617	48414923	115	7661											
MYO5A	4644	broad.mit.edu	37	chr15	52720764	52720765	+	In_Frame_Ins	INS	-	-	CTTATTTATACGTAT													gatctagatggtattccaaaINStcctgaaaatgcacaaggca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:52720764_52720765insCTTATTTATACGTAT	ENST00000399231.3	-	3	383_384	c.140_141insATACGTATAAATAAG	c.(139-141)gat>gaATACGTATAAATAAGt	p.47_47D>EYV*IS	MYO5A_ENST00000358212.6_In_Frame_Ins_p.47_47D>EYV*IS|MYO5A_ENST00000399233.2_In_Frame_Ins_p.47_47D>EYV*IS|MYO5A_ENST00000553916.1_In_Frame_Ins_p.47_47D>EYV*IS|MYO5A_ENST00000356338.6_In_Frame_Ins_p.47_47D>EYV*IS	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	47	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GGTATTCCAAATCCTGAAAATG	0.441													False	0	True	15:52720764	0	CTTATTTATACGTAT	52720765	-	CTTATTTATACGTAT	52720764	7	5	87	1	0	1	1	0	0	0	0	0	10145	98	4	0	5582	0	MYO5A	15	52720764	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08		52720764	49810628	116	7662											
LACTB	114294	broad.mit.edu	37	chr15	63419711	63419712	+	Frame_Shift_Ins	INS	-	-	ATTCAATTACAATATTAACCTGAAAAAT													agaaggcaaaagtaatgaaaINSagaatgattttactaaattt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:63419711_63419712insATTCAATTACAATATTAACCTGAAAAAT	ENST00000413507.2	+	4	814_815	c.775_776insATTCAATTACAATATTAACCTGAAAAAT	c.(775-777)aagfs	p.K259fs	LACTB_ENST00000261893.4_Frame_Shift_Ins_p.K259fs|RPS27L_ENST00000559763.1_Intron	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN	lactamase, beta	259						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						AAGTAATGAAAAGAATGATTTT	0.332													False	0	True	15:63419711	0	ATTCAATTACAATATTAACCTGAAAAAT	63419712	-	ATTCAATTACAATATTAACCTGAAAAAT	63419711	7	5	87	1	0	1	1	0	0	0	0	0	8648	15	1	0	789	0	LACTB	15	63419711	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	10698947	63419711	39111681	117	7663											
ZNF609	23060	broad.mit.edu	37	chr15	64791809	64791810	+	Frame_Shift_Ins	INS	-	-	TTTCCTATTT													gggataccggctcccaatgcINStgtggccacactaccagaca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:64791809_64791810insTTTCCTATTT	ENST00000326648.3	+	1	319_320	c.191_192insTTTCCTATTT	c.(190-195)gctgtgfs	p.V65fs	ZNF609_ENST00000416172.1_Frame_Shift_Ins_p.V65fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	65						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTCCCAATGCTGTGGCCACAC	0.51													False	0	False	15:64791809	0	TTTCCTATTT	64791810	-	TTTCCTATTT	64791809	7	5	87	1	0	1	1	0	0	0	0	0	18118	797	28	0	193	0	ZNF609	15	64791809	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	1372098	64791809	37739583	118	7664											
HEXA	3073	broad.mit.edu	37	chr15	72638920	72638921	+	Frame_Shift_Ins	INS	-	-	GATA													ccttccagtcagggccatagINSgatatacggttcaggtacca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:72638920_72638921insGATA	ENST00000566304.1	-	11	1330_1331	c.1310_1311insTATC	c.(1309-1311)tccfs	p.-437fs	HEXA_ENST00000457859.2_Intron|HEXA_ENST00000567159.1_Frame_Shift_Ins_p.-426fs|HEXA_ENST00000429918.2_Frame_Shift_Ins_p.-253fs|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000268097.5_Frame_Shift_Ins_p.-426fs			P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)						cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CAGGGCCATAGGATATACGGTT	0.54													False	1	False	15:72638920	0	GATA	72638921	-	GATA	72638920	7	5	87	1	0	1	1	0	0	0	0	0	7120	987	35	0	327	0	HEXA	15	72638920	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	7847111	72638920	29892472	119	7665											
C15orf59	388135	broad.mit.edu	37	chr15	74032751	74032751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccagcccctggccgagtcGactcgggaccatccacggag	14	16	0	0			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:74032751G>A	ENST00000569673.1	-	3	1593	c.389C>T	c.(388-390)tCg>tTg	p.S130L	C15orf59_ENST00000379822.4_Missense_Mutation_p.S130L|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	130										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGCCGAGTCGACTCGGGACC	0.627													False	0	False	15:74032751	0	A	74032751	G	A	74032751	3	1	87	1	0	0	0	0	1	0	0	0	1816	1059	37	1	496	1	C15orf59	15	74032751	Missense_Mutation	SNP	G	TCGA-IB-7649-01A-11D-2154-08	1393831	74032751	28498641	120	7666											
AKAP13	11214	broad.mit.edu	37	chr15	86118478	86118479	+	Frame_Shift_Ins	INS	-	-	C													acattaacctctgagtctgaINSttcacatcatgaacacccat							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:86118478_86118479insC	ENST00000394518.2	+	6	874_875	c.779_780insC	c.(778-783)gattcafs	p.S261fs	AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.S261fs	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	261					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCTGAGTCTGATTCACATCATG	0.416													False	0	False	15:86118478	0	C	86118479	-	C	86118478	7	5	87	1	0	1	1	0	0	0	0	0	449	333	12	0	797	0	AKAP13	15	86118478	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	12085727	86118478	16412914	121	7667											
ABCA3	21	broad.mit.edu	37	chr16	2334961	2334962	+	In_Frame_Ins	INS	-	-	ACGGAG													tgtcagccatgtggccgtccINScgcgtgaaggcacgcacgtc							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:2334961_2334962insACGGAG	ENST00000382381.3	-	23	4058_4059	c.3347_3348insCTCCGT	c.(3346-3348)cgg>cgCTCCGTg	p.1116_1117insSV	ABCA3_ENST00000301732.5_In_Frame_Ins_p.1174_1175insSV			Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1174					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGTGGCCGTCCCGCGTGAAGGC	0.629													False	0	True	16:2334961	0	ACGGAG	2334962	-	ACGGAG	2334961	7	5	87	1	0	1	1	0	0	0	0	0	33	610	22	0	1632	0	ABCA3	16	2334961	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08		2334961	88019792	122	7668											
ACSM5	54988	broad.mit.edu	37	chr16	20448624	20448625	+	Frame_Shift_Ins	INS	-	-	T													tgttgaagtggaaagtgcccINStggcagagcatcctgctgtc							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:20448624_20448625insT	ENST00000331849.4	+	12	1618_1619	c.1471_1472insT	c.(1471-1473)ctgfs	p.L491fs		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	491					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGAAAGTGCCCTGGCAGAGCAT	0.564													False	1	True	16:20448624	0	T	20448625	-	T	20448624	7	5	87	1	0	1	1	0	0	0	0	0	187	680	24	0	1513	0	ACSM5	16	20448624	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	18113663	20448624	69906129	123	7669	137	2									
ACSM5	54988	broad.mit.edu	37	chr16	20448626	20448627	+	Frame_Shift_Ins	INS	-	-	TTCTGAT													ttgaagtggaaagtgccctgINSgcagagcatcctgctgtcct							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:20448626_20448627insTTCTGAT	ENST00000331849.4	+	12	1620_1621	c.1473_1474insTTCTGAT	c.(1474-1476)gcafs	p.A492fs		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	492					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AAAGTGCCCTGGCAGAGCATCC	0.559													False	0	False	16:20448626	0	TTCTGAT	20448627	-	TTCTGAT	20448626	7	5	87	1	0	1	1	0	0	0	0	0	187	1335	47	0	1515	0	ACSM5	16	20448626	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	2	20448626	69906127	124	7670	137	2									
SRCAP	10847	broad.mit.edu	37	chr16	30749733	30749733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtgccagcccgggaagccCgtctgtccgcagcatgtcag	13	14	2	0			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:30749733C>T	ENST00000262518.4	+	34	8757	c.8372C>T	c.(8371-8373)cCg>cTg	p.P2791L	SRCAP_ENST00000344771.4_Missense_Mutation_p.P2633L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2729L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2791	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.P2791L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCGGGAAGCCCGTCTGTCCGC	0.662													False	0	True	16:30749733	0	T	30749733	C	T	30749733	3	4	87	1	0	0	0	0	1	0	0	0	15217	652	23	1	8498	1	SRCAP	16	30749733	Missense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08	10301107	30749733	59605020	125	7671											
ITGAM	3684	broad.mit.edu	37	chr16	31332934	31332935	+	In_Frame_Ins	INS	-	-	CCT													gtccagaagagcacacgggaINStcggctaagagaaggtgagg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:31332934_31332935insCCT	ENST00000544665.3	+	16	2062_2063	c.1991_1992insCCT	c.(1990-1995)gatcgg>gaCCTtcgg	p.664_665DR>DLR	ITGAM_ENST00000287497.8_In_Frame_Ins_p.663_664DR>DLR	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	663					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGCACACGGGATCGGCTAAGAG	0.53													False	0	False	16:31332934	0	CCT	31332935	-	CCT	31332934	7	5	87	1	0	1	1	0	0	0	0	0	7937	333	12	0	2053	0	ITGAM	16	31332934	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	583201	31332934	59021819	126	7672	138	2									
ITGAM	3684	broad.mit.edu	37	chr16	31332936	31332937	+	Frame_Shift_Ins	INS	-	-	AAACA													ccagaagagcacacgggatcINSggctaagagaaggtgaggct							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:31332936_31332937insAAACA	ENST00000544665.3	+	16	2064_2065	c.1993_1994insAAACA	c.(1993-1995)cggfs	p.R665fs	ITGAM_ENST00000287497.8_Frame_Shift_Ins_p.R664fs	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	664					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CACACGGGATCGGCTAAGAGAA	0.53													False	0	False	16:31332936	0	AAACA	31332937	-	AAACA	31332936	7	5	87	1	0	1	1	0	0	0	0	0	7937	875	31	0	2055	0	ITGAM	16	31332936	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	2	31332936	59021817	127	7673	138	2									
NFAT5	10725	broad.mit.edu	37	chr16	69689654	69689654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagtggacattgaaggcaCtactgttatagaagtcggcc	12	7	0	3			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:69689654C>T	ENST00000349945.1	+	7	2418	c.866C>T	c.(865-867)aCt>aTt	p.T289I	NFAT5_ENST00000393742.2_Missense_Mutation_p.T289I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T383I|NFAT5_ENST00000354436.2_Missense_Mutation_p.T365I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T289I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T383I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	365	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATTGAAGGCACTACTGTTATA	0.423													False	0	False	16:69689654	0	T	69689654	C	T	69689654	3	4	87	1	0	0	0	0	1	0	0	0	10428	565	20	2	1170	2	NFAT5	16	69689654	Missense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08	38356718	69689654	20665099	128	7674											
TP53	7157	broad.mit.edu	37	chr17	7579311	7579311	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccctcagggcaactgaCcgtgcaagtcacagacttgg	11	14	2	2	rs68140816		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:7579311C>T	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGCAACTGACCGTGCAAGTC	0.532		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)			False	0	False	17:7579311	0	T	7579311	C	T	7579311	5	4	87	1	0	0	0	0	0	0	1	0	16464	521	18	2	926	2	TP53	17	7579311	Splice_Site	SNP	C	TCGA-IB-7649-01A-11D-2154-08		7579311	73615899	129	7675											
ZNF18	7566	broad.mit.edu	37	chr17	11881333	11881334	+	Frame_Shift_Ins	INS	-	-	TCAAGAGGAATTGTGTCTAAGAG													ttgtcaaggctcgagctccaINSgctgaaacttttcccacagt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:11881333_11881334insTCAAGAGGAATTGTGTCTAAGAG	ENST00000322748.3	-	9	2194_2195	c.1590_1591insCTCTTAGACACAATTCCTCTTGA	c.(1588-1593)agctggfs	p.W531fs	ZNF18_ENST00000580306.1_Frame_Shift_Ins_p.W531fs|ZNF18_ENST00000454073.3_Frame_Shift_Ins_p.W530fs|ZNF18_ENST00000580613.1_3'UTR	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	531					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CTCGAGCTCCAGCTGAAACTTT	0.426													False	0	False	17:11881333	0	TCAAGAGGAATTGTGTCTAAGAG	11881334	-	TCAAGAGGAATTGTGTCTAAGAG	11881333	7	5	87	1	0	1	1	0	0	0	0	0	17830	188	7	0	62	0	ZNF18	17	11881333	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	4302022	11881333	69313877	130	7676											
TTC19	54902	broad.mit.edu	37	chr17	15909860	15909860	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaattgaaagagaaaaggaAttagcagaagacattatgtc	9	3	0	4			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:15909860A>G	ENST00000261647.5	+	7	1123	c.654A>G	c.(652-654)gaA>gaG	p.E218E	TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Silent_p.E339E	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	218					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAGAAAAGGAATTAGCAGAAG	0.363													False	0	False	17:15909860	0	G	15909860	A	G	15909860	2	3	87	1	0	0	0	0	0	0	0	1	16770	98	4	4		4	TTC19	17	15909860	Silent	SNP	A	TCGA-IB-7649-01A-11D-2154-08	4028527	15909860	65285350	131	7677											
NCOR1	9611	broad.mit.edu	37	chr17	15961041	15961042	+	Frame_Shift_Ins	INS	-	-	GACAAATCCAGGGGAAGGTA													atttctagcaaaatcttgtgINStgataatttgctgtgaatga							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:15961041_15961042insGACAAATCCAGGGGAAGGTA	ENST00000268712.3	-	40	6435_6436	c.6178_6179insTACCTTCCCCTGGATTTGTC	c.(6178-6180)acafs	p.T2060fs	NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.T1957fs|NCOR1_ENST00000395857.3_Frame_Shift_Ins_p.T644fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2060	ID1 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AAAATCTTGTGTGATAATTTGC	0.351													False	0	True	17:15961041	0	GACAAATCCAGGGGAAGGTA	15961042	-	GACAAATCCAGGGGAAGGTA	15961041	7	5	87	1	0	1	1	0	0	0	0	0	10303	1377	48	0	1171	0	NCOR1	17	15961041	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	51181	15961041	65234169	132	7678											
EFCAB5	374786	broad.mit.edu	37	chr17	28405424	28405425	+	Frame_Shift_Ins	INS	-	-	AAATTGTTTTGAAGACAATCTCACTT													tgagagtctgaggaattctgINSccaggcggaaatggctgcac							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:28405424_28405425insAAATTGTTTTGAAGACAATCTCACTT	ENST00000394835.3	+	15	3121_3122	c.2929_2930insAAATTGTTTTGAAGACAATCTCACTT	c.(2929-2931)gccfs	p.A977fs	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Frame_Shift_Ins_p.A853fs	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	977							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAGGAATTCTGCCAGGCGGAAA	0.495													False	0	False	17:28405424	0	AAATTGTTTTGAAGACAATCTCACTT	28405425	-	AAATTGTTTTGAAGACAATCTCACTT	28405424	7	5	87	1	0	1	1	0	0	0	0	0	4968	1319	46	0	3154	0	EFCAB5	17	28405424	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	12444383	28405424	52789786	133	7679											
C17orf75	64149	broad.mit.edu	37	chr17	30665340	30665341	+	In_Frame_Ins	INS	-	-	GTGGAAGAA													tttcattttggaaaaggcagINStaataacaaccaactcggta							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:30665340_30665341insGTGGAAGAA	ENST00000577809.1	-	4	426_427	c.377_378insTTCTTCCAC	c.(376-378)tac>taTTCTTCCACc	p.126_127insSST	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_In_Frame_Ins_p.126_127insSST	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	126					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGAAAAGGCAGTAATAACAACC	0.356													False	0	False	17:30665340	0	GTGGAAGAA	30665341	-	GTGGAAGAA	30665340	7	5	87	1	0	1	1	0	0	0	0	0	1893	1024	36	0	840	0	C17orf75	17	30665340	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	2259916	30665340	50529870	134	7680											
GGNBP2	79893	broad.mit.edu	37	chr17	34937916	34937917	+	In_Frame_Ins	INS	-	-	ATATTGGTCAGAACTTCTTTTCTT													aaaaataagtgtgtgtgtgaINStattcctactcccttacaaa							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:34937916_34937917insATATTGGTCAGAACTTCTTTTCTT	ENST00000304718.4	+	9	1479_1480	c.1163_1164insATATTGGTCAGAACTTCTTTTCTT	c.(1162-1167)gatatt>gaATATTGGTCAGAACTTCTTTTCTTtatt	p.388_388D>EYWSELLFF		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	388					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGTGTGTGTGATATTCCTACTC	0.356													False	0	False	17:34937916	0	ATATTGGTCAGAACTTCTTTTCTT	34937917	-	ATATTGGTCAGAACTTCTTTTCTT	34937916	7	5	87	1	0	1	1	0	0	0	0	0	6404	333	12	0	1193	0	GGNBP2	17	34937916	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	4272576	34937916	46257294	135	7681											
CACNB1	782	broad.mit.edu	37	chr17	37334238	37334238	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatctaggcactcacaGgggggcactgtgccagcttt	14	11	2	0	rs143114489		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:37334238G>T	ENST00000394303.3	-	12	1352	c.1145C>A	c.(1144-1146)cCt>cAt	p.P382H	CACNB1_ENST00000394310.3_Splice_Site_p.P382H|CACNB1_ENST00000344140.5_Splice_Site_p.P427H	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	382					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GGCACTCACAGGGGGGCACTG	0.537													False	0	True	17:37334238	0	T	37334238	G	T	37334238	5	4	87	1	0	0	0	0	0	0	1	0	2572	1014	35	3	768	3	CACNB1	17	37334238	Splice_Site	SNP	G	TCGA-IB-7649-01A-11D-2154-08	2396322	37334238	43860972	136	7682											
HELZ	9931	broad.mit.edu	37	chr17	65103457	65103458	+	In_Frame_Ins	INS	-	-	GAAAAATATCAGTATTTATTGATTTGATAATAG													tggccccattaggtgattctINSgttgcaagttagcaaaagtc							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:65103457_65103458insGAAAAATATCAGTATTTATTGATTTGATAATAG	ENST00000358691.5	-	31	5234_5235	c.5068_5069insCTATTATCAAATCAATAAATACTGATATTTTTC	c.(5068-5070)cag>cCTATTATCAAATCAATAAATACTGATATTTTTCag	p.1689_1690insPIIKSINTDIF	HELZ_ENST00000580168.1_In_Frame_Ins_p.1690_1691insPIIKSINTDIF	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TAGGTGATTCTGTTGCAAGTTA	0.485													False	0	False	17:65103457	0	GAAAAATATCAGTATTTATTGATTTGATAATAG	65103458	-	GAAAAATATCAGTATTTATTGATTTGATAATAG	65103457	7	5	87	1	0	1	1	0	0	0	0	0	7096	1580	55	0	771	0	HELZ	17	65103457	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	27769219	65103457	16091753	137	7683											
ABCA6	23460	broad.mit.edu	37	chr17	67121170	67121171	+	Frame_Shift_Ins	INS	-	-	TTCTCTGTCCTCTACA													ttcaagttataatccagtttINSgataatctaagattcaaaaa							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:67121170_67121171insTTCTCTGTCCTCTACA	ENST00000284425.2	-	9	1299_1300	c.1125_1126insTGTAGAGGACAGAGAA	c.(1123-1128)atcaaafs	p.IK375fs		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	375					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAATCCAGTTTGATAATCTAAG	0.267													False	0	True	17:67121170	0	TTCTCTGTCCTCTACA	67121171	-	TTCTCTGTCCTCTACA	67121170	7	5	87	1	0	1	1	0	0	0	0	0	36	1821	63	0	3851	0	ABCA6	17	67121170	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	2017713	67121170	14074040	138	7684											
QRICH2	84074	broad.mit.edu	37	chr17	74288565	74288567	+	In_Frame_Del	DEL	TGA	TGA	-													caggtgggaccaaaccacgcTgatgatctgcacgaggttgt					rs35035566		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:74288565_74288567delTGA	ENST00000262765.5	-	4	1922_1924	c.1743_1745delTCA	c.(1741-1746)catcag>cag	p.H581del		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	581	Gln-rich.						protein binding	p.H581Q(5)|p.Q582R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAAACCACGCTGATGATCTGCAC	0.537													False	2	False	17:74288565	0	-	74288567	TGA	-	74288565	7	5	87	1	0	1	0	1	0	0	0	0	12959	1580	55	0	3310	0	QRICH2	17	74288565	In_Frame_Del	DEL	TGA	TCGA-IB-7649-01A-11D-2154-08	7167395	74288565	6906645	139	7685											
USP36	57602	broad.mit.edu	37	chr17	76802360	76802361	+	In_Frame_Ins	INS	-	-	ACAGACAAA													tgccggtcgccctccacaggINSgtgctggcctgcagttatcg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:76802360_76802361insACAGACAAA	ENST00000542802.2	-	15	2536_2537	c.2093_2094insTTTGTCTGT	c.(2092-2094)acc>acTTTGTCTGTc	p.698_699insLSV	USP36_ENST00000312010.6_In_Frame_Ins_p.698_699insLSV|USP36_ENST00000449938.2_In_Frame_Ins_p.398_399insLSV			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	698					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCCTCCACAGGGTGCTGGCCTG	0.5													False	0	True	17:76802360	0	ACAGACAAA	76802361	-	ACAGACAAA	76802360	7	5	87	1	0	1	1	0	0	0	0	0	17151	1219	43	0	1301	0	USP36	17	76802360	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	2513795	76802360	4392850	140	7686											
PHLPP1	23239	broad.mit.edu	37	chr18	60639855	60639856	+	Frame_Shift_Ins	INS	-	-	TTATTTCAAG													tgccctaccttctccagtgcINSactatgagtgacattttggc							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr18:60639855_60639856insTTATTTCAAG	ENST00000262719.5	+	15	3903_3904	c.3669_3670insTTATTTCAAG	c.(3670-3672)actfs	p.T1224fs	PHLPP1_ENST00000400316.4_Frame_Shift_Ins_p.T712fs			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1224	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TTCTCCAGTGCACTATGAGTGA	0.455													False	0	False	18:60639855	0	TTATTTCAAG	60639856	-	TTATTTCAAG	60639855	7	5	87	1	0	1	1	0	0	0	0	0	11923	718	25	0	3727	0	PHLPP1	18	60639855	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08		60639855	17437393	141	7687											
MIDN	90007	broad.mit.edu	37	chr19	1257115	1257115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgcgcggggtccgtaccaCtggtcacccagccgcaaggc	14	16	1	0			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:1257115C>A	ENST00000300952.2	+	8	1766	c.1251C>A	c.(1249-1251)caC>caA	p.H417Q	MIDN_ENST00000591446.2_Missense_Mutation_p.H417Q	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	417						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCGTACCACTGGTCACCCA	0.706													False	0	False	19:1257115	0	A	1257115	C	A	1257115	3	1	87	1	0	0	0	0	1	0	0	0	9646	564	20	3	1277	3	MIDN	19	1257115	Missense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08		1257115	57871868	142	7688											
ZNRF4	148066	broad.mit.edu	37	chr19	5455852	5455852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggactttgcggatctgcCggcgctgttcggcgtccccc	15	14	1	0			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:5455852C>T	ENST00000222033.4	+	1	427	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	117						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCGGATCTGCCGGCGCTGTTC	0.672													False	0	False	19:5455852	0	T	5455852	C	T	5455852	3	4	87	1	0	0	0	0	1	0	0	0	18296	652	23	1	352	1	ZNRF4	19	5455852	Missense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08	4198737	5455852	53673131	143	7689											
ZNF653	115950	broad.mit.edu	37	chr19	11596575	11596575	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttccgatgcacaagaTtgacgtggttctggagacga	11	9	1	3			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:11596575T>C	ENST00000293771.5	-	7	1602	c.1466A>G	c.(1465-1467)aAt>aGt	p.N489S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						ATGCACAAGATTGACGTGGTT	0.562													False	0	False	19:11596575	0	C	11596575	T	C	11596575	3	2	87	1	0	0	0	0	1	0	0	0	18149	1493	52	4	393	4	ZNF653	19	11596575	Missense_Mutation	SNP	T	TCGA-IB-7649-01A-11D-2154-08	6140723	11596575	47532408	144	7690											
PODNL1	79883	broad.mit.edu	37	chr19	14047267	14047268	+	In_Frame_Ins	INS	-	-	CCC													taggggagttcctggagctgINSgttgttctgcagggtgagag							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:14047267_14047268insCCC	ENST00000538517.2	-	3	490_491	c.246_247insGGG	c.(244-249)aaccag>aacGGGcag	p.82_83NQ>NGQ	PODNL1_ENST00000339560.5_In_Frame_Ins_p.84_85NQ>NGQ|PODNL1_ENST00000254320.3_In_Frame_Ins_p.24_25insG|PODNL1_ENST00000538371.2_In_Frame_Ins_p.82_83NQ>NGQ	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	155	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			TCCTGGAGCTGGTTGTTCTGCA	0.589													False	0	False	19:14047267	0	CCC	14047268	-	CCC	14047267	7	5	87	1	0	1	1	0	0	0	0	0	12248	1357	47	0	1309	0	PODNL1	19	14047267	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	2450692	14047267	45081716	145	7691											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	87	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-IB-7649-01A-11D-2154-08	36400	14083667	45045316	146	7692											
EPHX3	79852	broad.mit.edu	37	chr19	15342180	15342181	+	Frame_Shift_Ins	INS	-	-	CTACT													catggaagcggctctggaacINStcccggagctggtaacgcca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:15342180_15342181insCTACT	ENST00000221730.3	-	3	576_577	c.356_357insAGTAG	c.(355-357)gagfs	p.-119fs	EPHX3_ENST00000435261.1_Frame_Shift_Ins_p.-119fs|EPHX3_ENST00000602233.1_Frame_Shift_Ins_p.-119fs	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3							extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGCTCTGGAACTCCCGGAGCTG	0.634													False	0	True	19:15342180	0	CTACT	15342181	-	CTACT	15342180	7	5	87	1	0	1	1	0	0	0	0	0	5213	564	20	0	745	0	EPHX3	19	15342180	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	1258513	15342180	43786803	147	7693											
CAPN12	147968	broad.mit.edu	37	chr19	39224373	39224393	+	In_Frame_Del	DEL	AGGAGTTCATGGTTCCAGAGG	AGGAGTTCATGGTTCCAGAGG	-													cagtgccagcctcagctcgtAggagttcatggttccagagg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AGGAGTTCATGGTTCCAGAGG	AGGAGTTCATGGTTCCAGAGG	-	-	AGGAGTTCATGGTTCCAGAGG	AGGAGTTCATGGTTCCAGAGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:39224373_39224393delAGGAGTTCATGGTTCCAGAGG	ENST00000328867.4	-	18	2215_2235	c.1907_1927delCCTCTGGAACCATGAACTCCT	c.(1906-1929)acctctggaaccatgaactcctac>aac	p.636_643TSGTMNSY>N	CAPN12_ENST00000601953.1_In_Frame_Del_p.487_494TSGTMNSY>N	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	636	Domain IV.|EF-hand.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTCAGCTCGTAGGAGTTCATGGTTCCAGAGGTGTCCTCATC	0.588													False	1	False	19:39224373	0	-	39224393	AGGAGTTCATGGTTCCAGAGG	-	39224373	7	5	87	1	0	1	0	1	0	0	0	0	2645	420	15	0	248	0	CAPN12	19	39224373	In_Frame_Del	DEL	AGGAGTTCATGGTTCCAGAGG	TCGA-IB-7649-01A-11D-2154-08	23882193	39224373	19904610	148	7694											
RPS11	6205	broad.mit.edu	37	chr19	50000840	50000840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaatgtgtccattcgagggCggatcctctctggtaagtgc	13	9	1	0			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:50000840C>T	ENST00000270625.2	+	3	294	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	RPS11_ENST00000596873.1_Missense_Mutation_p.R71W|RPS11_ENST00000594493.1_5'UTR|RPS11_ENST00000599561.1_Missense_Mutation_p.A36V	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	71					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CATTCGAGGGCGGATCCTCTC	0.537													False	0	True	19:50000840	0	T	50000840	C	T	50000840	3	4	87	1	0	0	0	0	1	0	0	0	13700	759	27	1	221	1	RPS11	19	50000840	Missense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08	10776467	50000840	9128143	149	7695											
CHGB	1114	broad.mit.edu	37	chr20	5903661	5903661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accacgggaggagcaggcccGacaggtcctctcaaggaggg	16	12	1	0			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:5903661G>A	ENST00000378961.4	+	4	1075	c.871G>A	c.(871-873)Gac>Aac	p.D291N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	291						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGCAGGCCCGACAGGTCCTC	0.582													False	0	True	20:5903661	0	A	5903661	G	A	5903661	3	1	87	1	0	0	0	0	1	0	0	0	3362	1058	37	1	885	1	CHGB	20	5903661	Missense_Mutation	SNP	G	TCGA-IB-7649-01A-11D-2154-08		5903661	57121859	150	7696											
NAA20	51126	broad.mit.edu	37	chr20	20007556	20007557	+	Frame_Shift_Ins	INS	-	-	A													ggagttactagaggagatttINScagaaaggtgagattcagtt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:20007556_20007557insA	ENST00000310450.4	+	4	385_386	c.298_299insA	c.(298-300)tcafs	p.S100fs	NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Frame_Shift_Ins_p.S100fs|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.S88fs	NM_181528.3	NP_852669.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	100	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						AGAGGAGATTTCAGAAAGGTGA	0.446													False	0	True	20:20007556	0	A	20007557	-	A	20007556	7	5	87	1	0	1	1	0	0	0	0	0	10187	1783	62	0	333	0	NAA20	20	20007556	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	14103895	20007556	43017964	151	7697	139	2									
NAA20	51126	broad.mit.edu	37	chr20	20007557	20007558	+	Frame_Shift_Ins	INS	-	-	ACATAAATAT													gagttactagaggagatttcINSagaaaggtgagattcagttt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:20007557_20007558insACATAAATAT	ENST00000310450.4	+	4	386_387	c.299_300insACATAAATAT	c.(298-303)tcagaafs	p.E101fs	NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Frame_Shift_Ins_p.E101fs|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.E89fs	NM_181528.3	NP_852669.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	101	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						GAGGAGATTTCAGAAAGGTGAG	0.446													False	0	False	20:20007557	0	ACATAAATAT	20007558	-	ACATAAATAT	20007557	7	5	87	1	0	1	1	0	0	0	0	0	10187	838	29	0	334	0	NAA20	20	20007557	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	1	20007557	43017963	152	7698	139	2									
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-													atgcagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55													False	1	True	20:46279833	0	-	46279834	GC	-	46279833	7	5	87	1	0	1	0	1	0	0	0	0	10298	962	34	0	3859	0	NCOA3	20	46279833	Frame_Shift_Del	DEL	GC	TCGA-IB-7649-01A-11D-2154-08	26272276	46279833	16745687	153	7699											
NRIP1	8204	broad.mit.edu	37	chr21	16338953	16338954	+	Frame_Shift_Ins	INS	-	-	TGAAAAG													ctcacatcattgtgtactccINSctgagggctggtgttttttt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr21:16338953_16338954insTGAAAAG	ENST00000400202.1	-	3	2272_2273	c.1560_1561insCTTTTCA	c.(1558-1563)cagggafs	p.G521fs	NRIP1_ENST00000318948.4_Frame_Shift_Ins_p.G521fs|NRIP1_ENST00000400199.1_Frame_Shift_Ins_p.G521fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	521	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTGTGTACTCCCTGAGGGCTGG	0.401													False	0	True	21:16338953	0	TGAAAAG	16338954	-	TGAAAAG	16338953	7	5	87	1	0	1	1	0	0	0	0	0	10720	632	22	0	1919	0	NRIP1	21	16338953	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08		16338953	31790942	154	7700											
EFCAB6	64800	broad.mit.edu	37	chr22	44112751	44112752	+	In_Frame_Ins	INS	-	-	AACAGCAATACA													agacaaaagttcctctcaatINSttcatccaaggagtagtttc							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr22:44112751_44112752insAACAGCAATACA	ENST00000262726.7	-	9	1111_1112	c.858_859insTGTATTGCTGTT	c.(856-861)gaaatt>gaaTGTATTGCTGTTatt	p.286_287EI>ECIAVI	EFCAB6_ENST00000358439.4_In_Frame_Ins_p.180_181EI>ECIAVI|EFCAB6_ENST00000356087.4_In_Frame_Ins_p.180_181EI>ECIAVI|EFCAB6_ENST00000396231.2_In_Frame_Ins_p.134_135EI>ECIAVI	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCCTCTCAATTTCATCCAAGG	0.371													False	0	True	22:44112751	0	AACAGCAATACA	44112752	-	AACAGCAATACA	44112751	7	5	87	1	0	1	1	0	0	0	0	0	4969	1493	52	0	3742	0	EFCAB6	22	44112751	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08		44112751	7191815	155	7701											
NLGN4X	57502	broad.mit.edu	37	chrX	5821413	5821413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaccagggttttccgccGcgtctccgggttttccttat	10	14	1	0			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:5821413G>A	ENST00000381095.3	-	5	1933	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	NLGN4X_ENST00000381092.1_Missense_Mutation_p.R436W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R436W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R456W|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R436W	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	436					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTTTTCCGCCGCGTCTCCGGG	0.602													False	0	False	X:5821413	0	A	5821413	G	A	5821413	3	1	87	1	0	0	0	0	1	0	0	0	10532	1086	38	1	1152	1	NLGN4X	23	5821413	Missense_Mutation	SNP	G	TCGA-IB-7649-01A-11D-2154-08		5821413	149449147	156	7702											
PPEF1	5475	broad.mit.edu	37	chrX	18842176	18842177	+	In_Frame_Ins	INS	-	-	AGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGT													tacatgtccagcttccagaaINStatccgcattgaaaaacctg							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:18842176_18842177insAGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGT	ENST00000361511.4	+	17	2131_2132	c.1637_1638insAGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGT	c.(1636-1641)aatatc>aaAGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGTtatc	p.546_546N>KVFLTTTITKPK*FV	PPEF1_ENST00000544635.1_In_Frame_Ins_p.481_481N>KVFLTTTITKPK*FV|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_In_Frame_Ins_p.493_493N>KVFLTTTITKPK*FV|PPEF1_ENST00000349874.5_In_Frame_Ins_p.484_484N>KVFLTTTITKPK*FV	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	546					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGCTTCCAGAATATCCGCATTG	0.431													False	0	False	X:18842176	0	AGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGT	18842177	-	AGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGT	18842176	7	5	87	1	0	1	1	0	0	0	0	0	12376	101	4	0	1691	0	PPEF1	23	18842176	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	13020763	18842176	136428384	157	7703											
USP9X	8239	broad.mit.edu	37	chrX	41089009	41089010	+	Frame_Shift_Ins	INS	-	-	AAAATAAAAC													taggatgacacttgcaaaagINScttgtgaactctgtccagag							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:41089009_41089010insAAAATAAAAC	ENST00000324545.7	+	43	8041_8042	c.7408_7409insAAAATAAAAC	c.(7408-7410)gctfs	p.A2470fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.A2470fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2470					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACTTGCAAAAGCTTGTGAACTC	0.411													False	0	False	X:41089009	0	AAAATAAAAC	41089010	-	AAAATAAAAC	41089009	7	5	87	1	0	1	1	0	0	0	0	0	17174	971	34	0	7574	0	USP9X	23	41089009	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	22246833	41089009	114181551	158	7704											
DDX3X	1654	broad.mit.edu	37	chrX	41206636	41206637	+	In_Frame_Ins	INS	-	-	CCATATTTTCCC													gccagcagttccagcttcagINScagcagccgcgcaagcagca							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:41206636_41206637insCCATATTTTCCC	ENST00000399959.2	+	16	2696_2697	c.1841_1842insCCATATTTTCCC	c.(1840-1845)agcagc>agCCATATTTTCCCcagc	p.614_615SS>SHIFPS	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_In_Frame_Ins_p.598_599SS>SHIFPS|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	614	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						tccagcttcagcagcagccgcg	0.51										HNSCC(61;0.18)			False	0	True	X:41206636	0	CCATATTTTCCC	41206637	-	CCATATTTTCCC	41206636	7	5	87	1	0	1	1	0	0	0	0	0	4383	971	34	0	1903	0	DDX3X	23	41206636	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	117627	41206636	114063924	159	7705											
RBM10	8241	broad.mit.edu	37	chrX	47038526	47038526	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccagaacttcaaacgcCgagagaagtgcttcaaatgt	10	10	2	2			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:47038526C>T	ENST00000377604.3	+	8	1430	c.688C>T	c.(688-690)Cga>Tga	p.R230*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.R153*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.R153*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	230					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CTTCAAACGCCGAGAGAAGTG	0.597													False	0	True	X:47038526	0	T	47038526	C	T	47038526	4	4	87	1	0	0	0	0	0	1	0	0	13190	644	23	1	714	1	RBM10	23	47038526	Nonsense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08	5831890	47038526	108232034	160	7706											
ZC3H12B	340554	broad.mit.edu	37	chrX	64719038	64719038	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtccaatgataactaccgagAccttcaagttgaaaagccag	8	10	1	3			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:64719038A>T	ENST00000338957.4	+	3	975	c.908A>T	c.(907-909)gAc>gTc	p.D303V	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D292V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	292							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTACCGAGACCTTCAAGTT	0.433													False	0	False	X:64719038	0	T	64719038	A	T	64719038	3	4	87	1	0	0	0	0	1	0	0	0	17645	275	10	5	918	5	ZC3H12B	23	64719038	Missense_Mutation	SNP	A	TCGA-IB-7649-01A-11D-2154-08	17680512	64719038	90551522	161	7707											
EDA	1896	broad.mit.edu	37	chrX	69253319	69253320	+	In_Frame_Ins	INS	-	-	TATCCCAGT													ggtgtttaagctacatccccINSgcagcggggagctggaggta							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:69253319_69253320insTATCCCAGT	ENST00000374552.4	+	7	1107_1108	c.865_866insTATCCCAGT	c.(865-867)cgc>cTATCCCAGTgc	p.289_289R>LSQC	EDA_ENST00000524573.1_In_Frame_Ins_p.286_286R>LSQC|EDA_ENST00000374553.2_In_Frame_Ins_p.289_289R>LSQC	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	289					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCTACATCCCCGCAGCGGGGAG	0.5											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	X:69253319	0	TATCCCAGT	69253320	-	TATCCCAGT	69253319	7	5	87	1	0	1	1	0	0	0	0	0	4933	652	23	0	1027	0	EDA	23	69253319	In_Frame_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	4534281	69253319	86017241	162	7708											
NLGN3	54413	broad.mit.edu	37	chrX	70367880	70367880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaccacccccatcctggtCgggcatccggaacgccacac	9	18	0	1			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:70367880C>T	ENST00000374051.3	+	2	603	c.281C>T	c.(280-282)tCg>tTg	p.S94L	NLGN3_ENST00000358741.3_Missense_Mutation_p.S94L|NLGN3_ENST00000536169.1_Missense_Mutation_p.S94L	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	94					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCATCCTGGTCGGGCATCCGG	0.632													False	0	True	X:70367880	0	T	70367880	C	T	70367880	3	4	87	1	0	0	0	0	1	0	0	0	10531	893	31	1	283	1	NLGN3	23	70367880	Missense_Mutation	SNP	C	TCGA-IB-7649-01A-11D-2154-08	1114561	70367880	84902680	163	7709											
NAP1L2	4674	broad.mit.edu	37	chrX	72433902	72433903	+	Frame_Shift_Ins	INS	-	-	GAATATGTGGATGAGGACGATGG													tccagtaagggttggtacatINSttcagcaaactttctttcaa							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:72433902_72433903insGAATATGTGGATGAGGACGATGG	ENST00000373517.3	-	1	781_782	c.426_427insCCATCGTCCTCATCCACATATTC	c.(424-429)gaaatgfs	p.M143fs	NAP1L2_ENST00000536638.1_Start_Codon_Ins	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	143					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GGTTGGTACATTTCAGCAAACT	0.386													False	0	True	X:72433902	0	GAATATGTGGATGAGGACGATGG	72433903	-	GAATATGTGGATGAGGACGATGG	72433902	7	5	87	1	0	1	1	0	0	0	0	0	10224	1493	52	0	959	0	NAP1L2	23	72433902	Frame_Shift_Ins	INS	-	TCGA-IB-7649-01A-11D-2154-08	2066022	72433902	82836658	164	7710											
ABCD1	215	broad.mit.edu	37	chrX	153001873	153001887	+	In_Frame_Del	DEL	CTTCAAGAGGCCCAG	CTTCAAGAGGCCCAG	-													gaagatgttcagcgctgtcaCttcaagaggcccagggagct							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	CTTCAAGAGGCCCAG	CTTCAAGAGGCCCAG	-	-	CTTCAAGAGGCCCAG	CTTCAAGAGGCCCAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:153001873_153001887delCTTCAAGAGGCCCAG	ENST00000218104.3	+	4	1698_1712	c.1299_1313delCTTCAAGAGGCCCAG	c.(1297-1314)cacttcaagaggcccagg>cag	p.433_438HFKRPR>Q	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	433					fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAG	0.628													False	1	False	X:153001873	0	-	153001887	CTTCAAGAGGCCCAG	-	153001873	7	5	87	1	0	1	0	1	0	0	0	0	60	564	20	0	1313	0	ABCD1	23	153001873	In_Frame_Del	DEL	CTTCAAGAGGCCCAG	TCGA-IB-7649-01A-11D-2154-08	80567971	153001873	2268687	165	7711											
IL9R	3581	broad.mit.edu	37	chrX	155231143	155231143	+	Frame_Shift_Del	DEL	T	T	-													tttcatgctgtggctggtggTtccaggctgcacgctccatt							TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:155231143delT	ENST00000369423.2	+	2	153	c.115delT	c.(115-117)ttcfs	p.F39fs	IL9R_ENST00000244174.5_Intron|IL9R_ENST00000540897.1_Frame_Shift_Del_p.F29fs|IL9R_ENST00000424344.3_5'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	0					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGCTGGTGGTTCCAGGCTGC	0.547													False	2	False	X:155231143	0	-	155231143	T	-	155231143	7	5	87	1	0	1	0	1	0	0	0	0	7758	1740	60	0		0	IL9R	23	155231143	Frame_Shift_Del	DEL	T	TCGA-IB-7649-01A-11D-2154-08	2229270	155231143	39417	166	7712											
SAMD11	148398	broad.mit.edu	37	chr1	879470	879470	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccggtcaaacttcacccaaGcaggagaatgggaccttggc	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:879470G>T	ENST00000342066.3	+	14	2066	c.1983G>T	c.(1981-1983)aaG>aaT	p.K661N		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	661						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTTCACCCAAGCAGGAGAATG	0.657													False	0	False	1:879470	0	T	879470	G	T	879470	3	4	88	1	0	0	0	0	1	0	0	0	13895	962	34	3	2033	3	SAMD11	1	879470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		879470	248371151	1	7713											
NOC2L	26155	broad.mit.edu	37	chr1	892379	892379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccatcttctccttcctcCgctccatcctcctcctcact	1	23	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:892379C>T	ENST00000327044.6	-	4	430	c.381G>A	c.(379-381)gcG>gcA	p.A127A	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	127						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCCTTCCTCCGCTCCATCCT	0.582													False	0	False	1:892379	0	T	892379	C	T	892379	2	4	88	1	0	0	0	0	0	0	0	1	10581	639	23	1		1	NOC2L	1	892379	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12909	892379	248358242	2	7714											
NOC2L	26155	broad.mit.edu	37	chr1	892589	892589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcaggaacttgtagaactCggggtctctgtccttcagcc	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:892589C>T	ENST00000327044.6	-	3	293	c.244G>A	c.(244-246)Gag>Aag	p.E82K	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	82						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TTGTAGAACTCGGGGTCTCTG	0.592													False	0	True	1:892589	0	T	892589	C	T	892589	3	4	88	1	0	0	0	0	1	0	0	0	10581	893	31	1	2073	1	NOC2L	1	892589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210	892589	248358032	3	7715											
KLHL17	339451	broad.mit.edu	37	chr1	897248	897248	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcagctgaatggcgtcCgagacgcttgctgcaagttt	12	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:897248C>T	ENST00000338591.3	+	4	639	c.532C>T	c.(532-534)Cga>Tga	p.R178*		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	178					actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAATGGCGTCCGAGACGCTTG	0.647													False	0	False	1:897248	0	T	897248	C	T	897248	4	4	88	1	0	0	0	0	0	1	0	0	8422	644	23	1	546	1	KLHL17	1	897248	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4659	897248	248353373	4	7716											
AGRN	375790	broad.mit.edu	37	chr1	979372	979372	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctccagcagacacagatCgaggaggcccgggcagggcc	15	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:979372C>T	ENST00000379370.2	+	10	2018	c.1968C>T	c.(1966-1968)atC>atT	p.I656I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	656	Kazal-like 7.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGACACAGATCGAGGAGGCCC	0.697													False	0	False	1:979372	0	T	979372	C	T	979372	2	4	88	1	0	0	0	0	0	0	0	1	397	874	31	1		1	AGRN	1	979372	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82124	979372	248271249	5	7717											
AGRN	375790	broad.mit.edu	37	chr1	989173	989173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accactttgaactgagcctgCgcactgaggccacgcagggg	13	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:989173C>T	ENST00000379370.2	+	34	5742	c.5692C>T	c.(5692-5694)Cgc>Tgc	p.R1898C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1898	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACTGAGCCTGCGCACTGAGGC	0.642													False	0	False	1:989173	0	T	989173	C	T	989173	3	4	88	1	0	0	0	0	1	0	0	0	397	768	27	1	5826	1	AGRN	1	989173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9801	989173	248261448	6	7718											
AGRN	375790	broad.mit.edu	37	chr1	989228	989228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaaggccacggagcgggCagactatgtggcactggcca	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:989228C>T	ENST00000379370.2	+	34	5797	c.5747C>T	c.(5746-5748)gCa>gTa	p.A1916V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1916	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACGGAGCGGGCAGACTATGTG	0.642													False	0	True	1:989228	0	T	989228	C	T	989228	3	4	88	1	0	0	0	0	1	0	0	0	397	710	25	2	5881	2	AGRN	1	989228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	989228	248261393	7	7719											
C1orf159	54991	broad.mit.edu	37	chr1	1021354	1021354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggccggagctaatgaagaAcgtgcccaggaagagggagg	18	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1021354A>G	ENST00000448924.1	-	8	888	c.457T>C	c.(457-459)Ttc>Ctc	p.F153L	C1orf159_ENST00000437760.1_Missense_Mutation_p.F117L|C1orf159_ENST00000379320.1_Missense_Mutation_p.F117L|C1orf159_ENST00000421241.2_Missense_Mutation_p.F117L|C1orf159_ENST00000379319.1_Missense_Mutation_p.F117L|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Missense_Mutation_p.F153L|C1orf159_ENST00000294576.5_Missense_Mutation_p.F117L			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	153						integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTAATGAAGAACGTGCCCAGG	0.627													False	0	False	1:1021354	0	G	1021354	A	G	1021354	3	3	88	1	0	0	0	0	1	0	0	0	2023	43	2	4	263	4	C1orf159	1	1021354	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32126	1021354	248229267	8	7720											
TTLL10	254173	broad.mit.edu	37	chr1	1115463	1115463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaggaggagggactccgGtgtcagccaagccagccaga	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1115463G>A	ENST00000379290.1	+	6	422	c.249G>A	c.(247-249)cgG>cgA	p.R83R	TTLL10_ENST00000379288.3_Silent_p.R10R|TTLL10_ENST00000379289.1_Silent_p.R83R			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	83					protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGACTCCGGTGTCAGCCAA	0.701													False	0	False	1:1115463	0	A	1115463	G	A	1115463	2	1	88	1	0	0	0	0	0	0	0	1	16807	1248	44	2		2	TTLL10	1	1115463	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94109	1115463	248135158	9	7721											
SDF4	51150	broad.mit.edu	37	chr1	1153037	1153037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcttggcctcgttcagcGcgttgtactcgttcatgggg	13	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1153037G>A	ENST00000360001.6	-	7	1206	c.944C>T	c.(943-945)gCg>gTg	p.A315V	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	315	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CTCGTTCAGCGCGTTGTACTC	0.652													False	0	False	1:1153037	0	A	1153037	G	A	1153037	3	1	88	1	0	0	0	0	1	0	0	0	14043	1087	38	1	148	1	SDF4	1	1153037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37574	1153037	248097584	10	7722											
SDF4	51150	broad.mit.edu	37	chr1	1154014	1154014	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcttgtcaccgtcctggtCtgcgagacgggaatgggtca	14	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1154014C>T	ENST00000263741.7	-	6	1029		c.e6-1		SDF4_ENST00000360001.6_Splice_Site	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4						cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CCGTCCTGGTCTGCGAGACGG	0.677													False	0	False	1:1154014	0	T	1154014	C	T	1154014	5	4	88	1	0	0	0	0	0	0	1	0	14043	927	32	2	476	2	SDF4	1	1154014	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	977	1154014	248096607	11	7723											
UBE2J2	118424	broad.mit.edu	37	chr1	1191433	1191433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctttcttacctccacgaCttcaggaaataattcacaaa	4	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1191433C>T	ENST00000347370.2	-	6	804	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	UBE2J2_ENST00000360466.2_Missense_Mutation_p.V163I|UBE2J2_ENST00000349431.6_Missense_Mutation_p.V163I|UBE2J2_ENST00000339385.6_Missense_Mutation_p.V128I|UBE2J2_ENST00000400929.2_Missense_Mutation_p.V111I|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V179I|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V111I	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	163					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		ACCTCCACGACTTCAGGAAAT	0.418													False	0	False	1:1191433	0	T	1191433	C	T	1191433	3	4	88	1	0	0	0	0	1	0	0	0	16945	565	20	2	300	2	UBE2J2	1	1191433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37419	1191433	248059188	12	7724											
UBE2J2	118424	broad.mit.edu	37	chr1	1203315	1203315	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttcttaatgcgaaggtagtCctgcttcagcctctgggttg	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1203315C>A	ENST00000349431.6	-	2	277	c.58G>T	c.(58-60)Gac>Tac	p.D20Y	UBE2J2_ENST00000360466.2_Missense_Mutation_p.D20Y|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000400930.4_Missense_Mutation_p.D20Y|UBE2J2_ENST00000348298.7_5'UTR	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	20					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CGAAGGTAGTCCTGCTTCAGC	0.572													False	0	False	1:1203315	0	A	1203315	C	A	1203315	3	1	88	1	0	0	0	0	1	0	0	0	16945	855	30	3	797	3	UBE2J2	1	1203315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11882	1203315	248047306	13	7725											
SCNN1D	6339	broad.mit.edu	37	chr1	1222152	1222152	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccctgcgtcccaggccgAgtccggtcctccgccatctg	13	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1222152A>G	ENST00000338555.2	+	5	1568	c.424A>G	c.(424-426)Agt>Ggt	p.S142G	SCNN1D_ENST00000325425.8_Missense_Mutation_p.S208G|SCNN1D_ENST00000400928.3_Missense_Mutation_p.S142G|SCNN1D_ENST00000379116.5_Missense_Mutation_p.S306G					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TCCCAGGCCGAGTCCGGTCCT	0.657													False	0	False	1:1222152	0	G	1222152	A	G	1222152	3	3	88	1	0	0	0	0	1	0	0	0	14010	304	11	4	640	4	SCNN1D	1	1222152	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18837	1222152	248028469	14	7726											
SCNN1D	6339	broad.mit.edu	37	chr1	1225717	1225717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtggctactacctccacCctctgccggcgggggctgag	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1225717C>T	ENST00000338555.2	+	10	2381	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S	SCNN1D_ENST00000325425.8_Missense_Mutation_p.P479S|SCNN1D_ENST00000400928.3_Missense_Mutation_p.P413S|SCNN1D_ENST00000379116.5_Missense_Mutation_p.P577S					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CTACCTCCACCCTCTGCCGGC	0.667													False	0	True	1:1225717	0	T	1225717	C	T	1225717	3	4	88	1	0	0	0	0	1	0	0	0	14010	623	22	2	1473	2	SCNN1D	1	1225717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3565	1225717	248024904	15	7727											
SCNN1D	6339	broad.mit.edu	37	chr1	1226291	1226291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggatggactctggccaCgctaggtgaacaggggctgc	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1226291C>T	ENST00000338555.2	+	13	2586	c.1442C>T	c.(1441-1443)aCg>aTg	p.T481M	SCNN1D_ENST00000325425.8_Missense_Mutation_p.T547M|SCNN1D_ENST00000400928.3_Missense_Mutation_p.T481M|SCNN1D_ENST00000379116.5_Missense_Mutation_p.T645M					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ACTCTGGCCACGCTAGGTGAA	0.672													False	0	False	1:1226291	0	T	1226291	C	T	1226291	3	4	88	1	0	0	0	0	1	0	0	0	14010	536	19	1	1690	1	SCNN1D	1	1226291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	574	1226291	248024330	16	7728											
CPSF3L	54973	broad.mit.edu	37	chr1	1255909	1255909	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagtcagggaagcgtcGctaggaaggatgtgggggtt	20	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1255909G>A	ENST00000540437.1	-	5	600	c.145C>T	c.(145-147)Cga>Tga	p.R49*	CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000435064.1_Splice_Site_p.R43*|CPSF3L_ENST00000545578.1_Splice_Site_p.R14*|CPSF3L_ENST00000450926.2_Splice_Site_p.R43*|CPSF3L_ENST00000421495.2_Intron	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	43						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GGGAAGCGTCGCTAGGAAGGA	0.607													False	0	False	1:1255909	0	A	1255909	G	A	1255909	5	1	88	1	0	0	0	0	0	0	1	0	3850	1101	38	1	1735	1	CPSF3L	1	1255909	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29618	1255909	247994712	17	7729											
TAS1R3	83756	broad.mit.edu	37	chr1	1268422	1268422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtggcagggctcagtgcCcaggctccacgacgtgggca	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1268422C>T	ENST00000339381.5	+	4	1429	c.1397C>T	c.(1396-1398)cCc>cTc	p.P466L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	466					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GGCTCAGTGCCCAGGCTCCAC	0.647													False	0	True	1:1268422	0	T	1268422	C	T	1268422	3	4	88	1	0	0	0	0	1	0	0	0	15646	623	22	2	1411	2	TAS1R3	1	1268422	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12513	1268422	247982199	18	7730											
TAS1R3	83756	broad.mit.edu	37	chr1	1269749	1269749	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgctcatgcggcagccaGggctcaacacccccgagttc	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1269749G>T	ENST00000339381.5	+	6	2496	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	822					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GCGGCAGCCAGGGCTCAACAC	0.642													False	0	True	1:1269749	0	T	1269749	G	T	1269749	3	4	88	1	0	0	0	0	1	0	0	0	15646	1000	35	3	2486	3	TAS1R3	1	1269749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1327	1269749	247980872	19	7731											
DVL1	1855	broad.mit.edu	37	chr1	1271741	1271741	+	Missense_Mutation	SNP	C	C	A													gggctgctgccacggctgagCtggccggccggacgctctcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1271741C>A	ENST00000378888.5	-	15	2153	c.1869G>T	c.(1867-1869)caG>caT	p.Q623H	DVL1_ENST00000378891.5_Missense_Mutation_p.Q598H			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	623					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACGGCTGAGCTGGCCGGCCG	0.741													False	0	False	1:1271741	0	A	1271741	C	A	1271741	3	1	88	1	0	0	0	0	1	0	0	0	4865	796	28	3	222	3	DVL1	1	1271741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1992	1271741	247978880	20	7732	140	2									
DVL1	1855	broad.mit.edu	37	chr1	1271751	1271751	+	Missense_Mutation	SNP	G	G	A													cacggctgagctggccggccGgacgctctcgccagctgctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1271751G>A	ENST00000378888.5	-	15	2143	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	DVL1_ENST00000378891.5_Missense_Mutation_p.P595L			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	620					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGGCCGGCCGGACGCTCTCG	0.731													False	0	True	1:1271751	0	A	1271751	G	A	1271751	3	1	88	1	0	0	0	0	1	0	0	0	4865	1116	39	1	232	1	DVL1	1	1271751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	1271751	247978870	21	7733	140	2									
DVL1	1855	broad.mit.edu	37	chr1	1275450	1275450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccgggctcgatgcggcCgtcagcggccacagccccgc	15	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1275450C>T	ENST00000378888.5	-	8	1161	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	DVL1_ENST00000378891.5_Missense_Mutation_p.G293S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	293	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGATGCGGCCGTCAGCGGCC	0.647													False	0	False	1:1275450	0	T	1275450	C	T	1275450	3	4	88	1	0	0	0	0	1	0	0	0	4865	652	23	1	1167	1	DVL1	1	1275450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3699	1275450	247975171	22	7734											
DVL1	1855	broad.mit.edu	37	chr1	1275821	1275821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgaaggcgctgcttcctcCgccggcgtttgtgcttccgg	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1275821C>T	ENST00000378888.5	-	6	952	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	DVL1_ENST00000378891.5_Missense_Mutation_p.R223Q			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	223	Poly-Arg.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGCTTCCTCCGCCGGCGTTT	0.667													False	0	False	1:1275821	0	T	1275821	C	T	1275821	3	4	88	1	0	0	0	0	1	0	0	0	4865	652	23	1	1384	1	DVL1	1	1275821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	371	1275821	247974800	23	7735											
ATAD3C	219293	broad.mit.edu	37	chr1	1386075	1386075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggccatgtcaaaggaCgccctgaatctggcgcagat	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1386075C>T	ENST00000378785.2	+	1	1007	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	4							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCAAAGGACGCCCTGAATC	0.642													False	0	False	1:1386075	0	T	1386075	C	T	1386075	2	4	88	1	0	0	0	0	0	0	0	1	1079	535	19	1		1	ATAD3C	1	1386075	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110254	1386075	247864546	24	7736											
ATAD3C	219293	broad.mit.edu	37	chr1	1389854	1389854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacgtcccgcatcacggtgCttgaggcgctgcggcacccc	13	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1389854C>A	ENST00000378785.2	+	4	1347	c.352C>A	c.(352-354)Ctt>Att	p.L118I		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	118							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CATCACGGTGCTTGAGGCGCT	0.667													False	0	False	1:1389854	0	A	1389854	C	A	1389854	3	1	88	1	0	0	0	0	1	0	0	0	1079	797	28	3	366	3	ATAD3C	1	1389854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3779	1389854	247860767	25	7737											
ATAD3A	55210	broad.mit.edu	37	chr1	1455928	1455928	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccactgctttccccgcagGacggctggcaccttgtttgg	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1455928G>A	ENST00000378755.5	+	7	919	c.825G>A	c.(823-825)agG>agA	p.R275R	ATAD3A_ENST00000536055.1_Splice_Site_p.R148R|ATAD3A_ENST00000378756.3_Splice_Site_p.R227R	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	275							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TTCCCCGCAGGACGGCTGGCA	0.587													False	0	False	1:1455928	0	A	1455928	G	A	1455928	5	1	88	1	0	0	0	0	0	0	1	0	1077	1188	41	2	851	2	ATAD3A	1	1455928	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66074	1455928	247794693	26	7738											
ATAD3A	55210	broad.mit.edu	37	chr1	1458924	1458924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagtcgaccccaggacGcgctggagggtgttgtgctc	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1458924G>A	ENST00000378755.5	+	9	1178	c.1084G>A	c.(1084-1086)Gcg>Acg	p.A362T	ATAD3A_ENST00000536055.1_Missense_Mutation_p.A235T|ATAD3A_ENST00000378756.3_Missense_Mutation_p.A314T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	362							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		ACCCCAGGACGCGCTGGAGGG	0.711													False	0	False	1:1458924	0	A	1458924	G	A	1458924	3	1	88	1	0	0	0	0	1	0	0	0	1077	1087	38	1	1118	1	ATAD3A	1	1458924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2996	1458924	247791697	27	7739											
CDK11B	984	broad.mit.edu	37	chr1	1580536	1580536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcctccgcccgccgctcGcgctccttctgctcccgctg	9	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1580536G>A	ENST00000407249.3	-	7	590	c.591C>T	c.(589-591)cgC>cgT	p.R197R	CDK11B_ENST00000317673.7_Silent_p.R195R|CDK11B_ENST00000341832.6_Silent_p.R150R|CDK11B_ENST00000340677.5_Silent_p.R184R			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	194	Glu-rich.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CCCGCCGCTCGCGCTCCTTCT	0.706													False	0	False	1:1580536	0	A	1580536	G	A	1580536	2	1	88	1	0	0	0	0	0	0	0	1	3150	1102	38	1		1	CDK11B	1	1580536	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121612	1580536	247670085	28	7740											
SLC35E2	9906	broad.mit.edu	37	chr1	1666219	1666219	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgtcagaagcagcagcAccacgtcctggttgtagctg	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1666219A>G	ENST00000355439.2	-	6	1402	c.642T>C	c.(640-642)ggT>ggC	p.G214G	SLC35E2_ENST00000475229.1_5'UTR|SLC35E2_ENST00000400924.1_Silent_p.G214G|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000246421.4_Silent_p.G214G	NM_001199787.1	NP_001186716.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	214						integral to membrane				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AAGCAGCAGCACCACGTCCTG	0.547													False	0	True	1:1666219	0	G	1666219	A	G	1666219	2	3	88	1	0	0	0	0	0	0	0	1	14665	146	6	4		4	SLC35E2	1	1666219	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	85683	1666219	247584402	29	7741											
SLC35E2	9906	broad.mit.edu	37	chr1	1670364	1670364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaggagattctttacctcAtcagacccacaaacagcatc	5	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1670364A>G	ENST00000355439.2	-	4	1215	c.455T>C	c.(454-456)aTg>aCg	p.M152T	SLC35E2_ENST00000400924.1_Missense_Mutation_p.M152T|SLC35E2_ENST00000246421.4_Missense_Mutation_p.M152T	NM_001199787.1	NP_001186716.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	152						integral to membrane				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCTTTACCTCATCAGACCCAC	0.473													False	0	False	1:1670364	0	G	1670364	A	G	1670364	3	3	88	1	0	0	0	0	1	0	0	0	14665	217	8	4	1611	4	SLC35E2	1	1670364	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4145	1670364	247580257	30	7742											
GNB1	2782	broad.mit.edu	37	chr1	1718817	1718817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaccctgtcgccacagCcatgccatcgtcagtcacgc	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1718817C>T	ENST00000378609.4	-	11	1307	c.976G>A	c.(976-978)Gct>Act	p.A326T		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	326					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GTCGCCACAGCCATGCCATCG	0.572													False	0	True	1:1718817	0	T	1718817	C	T	1718817	3	4	88	1	0	0	0	0	1	0	0	0	6560	739	26	2	50	2	GNB1	1	1718817	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48453	1718817	247531804	31	7743											
GABRD	2563	broad.mit.edu	37	chr1	1956825	1956825	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtggccagcatcgaccacatCtcagaggccaacatggtagg	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1956825C>A	ENST00000378585.4	+	3	317	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	78						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCGACCACATCTCAGAGGCCA	0.652													False	0	False	1:1956825	0	A	1956825	C	A	1956825	2	1	88	1	0	0	0	0	0	0	0	1	6211	903	32	3		3	GABRD	1	1956825	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238008	1956825	247293796	32	7744											
GABRD	2563	broad.mit.edu	37	chr1	1961614	1961614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggggggcatccgtgccCggctcaggcccatcgacgca	15	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1961614C>T	ENST00000378585.4	+	9	1335	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	418						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CATCCGTGCCCGGCTCAGGCC	0.662													False	0	True	1:1961614	0	T	1961614	C	T	1961614	3	4	88	1	0	0	0	0	1	0	0	0	6211	643	23	1	1286	1	GABRD	1	1961614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4789	1961614	247289007	33	7745											
SKI	6497	broad.mit.edu	37	chr1	2160432	2160432	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgcccgtgctgcaccTgcccgccatccagccgccgc	11	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160432T>C	ENST00000378536.4	+	1	299	c.227T>C	c.(226-228)cTg>cCg	p.L76P		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	76					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GTGCTGCACCTGCCCGCCATC	0.761													False	0	False	1:2160432	0	C	2160432	T	C	2160432	3	2	88	1	0	0	0	0	1	0	0	0	14438	1580	55	4	229	4	SKI	1	2160432	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	198818	2160432	247090189	34	7746											
SKI	6497	broad.mit.edu	37	chr1	2160862	2160862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcgagcgcagcgtccgCgtgtaccacgagtgcttcgg	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160862C>T	ENST00000378536.4	+	1	729	c.657C>T	c.(655-657)cgC>cgT	p.R219R		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	219					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCAGCGTCCGCGTGTACCACG	0.706													False	0	False	1:2160862	0	T	2160862	C	T	2160862	2	4	88	1	0	0	0	0	0	0	0	1	14438	755	27	1		1	SKI	1	2160862	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	430	2160862	247089759	35	7747											
SKI	6497	broad.mit.edu	37	chr1	2160910	2160910	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggggctgctggtgcccgaGctctacagcagcccgagcgc	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160910G>T	ENST00000378536.4	+	1	777	c.705G>T	c.(703-705)gaG>gaT	p.E235D		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	235					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TGGTGCCCGAGCTCTACAGCA	0.682													False	0	False	1:2160910	0	T	2160910	G	T	2160910	3	4	88	1	0	0	0	0	1	0	0	0	14438	962	34	3	707	3	SKI	1	2160910	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	2160910	247089711	36	7748											
MORN1	79906	broad.mit.edu	37	chr1	2290153	2290153	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggacccggccgctctcGccttccaggagagaggagca	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2290153G>A	ENST00000378531.3	-	9	920	c.747C>T	c.(745-747)agC>agT	p.S249S	MORN1_ENST00000378529.3_Splice_Site_p.S249S|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	249										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GGCCGCTCTCGCCTTCCAGGA	0.597													False	0	False	1:2290153	0	A	2290153	G	A	2290153	5	1	88	1	0	0	0	0	0	0	1	0	9775	1101	38	1	770	1	MORN1	1	2290153	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129243	2290153	246960468	37	7749											
MORN1	79906	broad.mit.edu	37	chr1	2318897	2318897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctccccttcataacatcCgccggctttgtactccatga	6	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2318897C>T	ENST00000378531.3	-	4	492	c.319G>A	c.(319-321)Gga>Aga	p.G107R	MORN1_ENST00000378529.3_Missense_Mutation_p.G107R|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	107										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TCATAACATCCGCCGGCTTTG	0.597													False	0	False	1:2318897	0	T	2318897	C	T	2318897	3	4	88	1	0	0	0	0	1	0	0	0	9775	661	23	1	1218	1	MORN1	1	2318897	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28744	2318897	246931724	38	7750											
PANK4	55229	broad.mit.edu	37	chr1	2452547	2452547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccccactcacttcagccGcagcttctcttcgatgaggt	8	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2452547G>A	ENST00000378466.3	-	3	427	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	PANK4_ENST00000435556.3_Intron	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	139					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CACTTCAGCCGCAGCTTCTCT	0.597													False	0	False	1:2452547	0	A	2452547	G	A	2452547	3	1	88	1	0	0	0	0	1	0	0	0	11487	1086	38	1	1974	1	PANK4	1	2452547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133650	2452547	246798074	39	7751											
MMEL1	79258	broad.mit.edu	37	chr1	2523018	2523018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacttcaggggactgtggaCgtctgtcttgatggattgga	15	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2523018C>T	ENST00000288709.6	-	23	2431	c.2191G>A	c.(2191-2193)Gtc>Atc	p.V731I	MMEL1_ENST00000378412.3_Missense_Mutation_p.V740I|MMEL1_ENST00000502556.1_Missense_Mutation_p.V583I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	740					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGACTGTGGACGTCTGTCTTG	0.617													False	0	True	1:2523018	0	T	2523018	C	T	2523018	3	4	88	1	0	0	0	0	1	0	0	0	9713	536	19	1	129	1	MMEL1	1	2523018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70471	2523018	246727603	40	7752											
MMEL1	79258	broad.mit.edu	37	chr1	2524320	2524320	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagttgccgtactggtagatCatgcactctgactgctcccg	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2524320C>A	ENST00000288709.6	-	20	2166	c.1926G>T	c.(1924-1926)atG>atT	p.M642I	MMEL1_ENST00000378412.3_Missense_Mutation_p.M651I|MMEL1_ENST00000502556.1_Missense_Mutation_p.M494I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	651					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACTGGTAGATCATGCACTCTG	0.607													False	0	False	1:2524320	0	A	2524320	C	A	2524320	3	1	88	1	0	0	0	0	1	0	0	0	9713	826	29	3	406	3	MMEL1	1	2524320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1302	2524320	246726301	41	7753											
ACTRT2	140625	broad.mit.edu	37	chr1	2938529	2938529	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagagactctggaagcacctCtttgagtgggagctaggcgt	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2938529C>A	ENST00000378404.2	+	1	484	c.279C>A	c.(277-279)ctC>ctA	p.L93L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	93						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGAAGCACCTCTTTGAGTGGG	0.612													False	0	True	1:2938529	0	A	2938529	C	A	2938529	2	1	88	1	0	0	0	0	0	0	0	1	219	900	32	3		3	ACTRT2	1	2938529	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	414209	2938529	246312092	42	7754											
PRDM16	63976	broad.mit.edu	37	chr1	3301745	3301745	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacctgggcagtgagaagttCtgcgtggatgcaaatcaggc	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3301745C>T	ENST00000378398.3	+	4	550	c.468C>T	c.(466-468)ttC>ttT	p.F156F	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Silent_p.F156F|PRDM16_ENST00000378391.2_Silent_p.F156F|PRDM16_ENST00000511072.1_Silent_p.F157F|PRDM16_ENST00000514189.1_Silent_p.F157F|PRDM16_ENST00000441472.2_Silent_p.F156F|PRDM16_ENST00000442529.2_Silent_p.F156F			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	156	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTGAGAAGTTCTGCGTGGATG	0.597			T	EVI1	"MDS, AML"								False	0	False	1:3301745	0	T	3301745	C	T	3301745	2	4	88	1	0	0	0	0	0	0	0	1	12533	912	32	2		2	PRDM16	1	3301745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	363216	3301745	245948876	43	7755											
ARHGEF16	27237	broad.mit.edu	37	chr1	3394527	3394527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggactttttcgaaaaattgCcagccggccaacgtgctacc	9	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3394527C>T	ENST00000378378.4	+	11	1967	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A233V|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A225V|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A233V	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	521	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGAAAAATTGCCAGCCGGCCA	0.577													False	0	False	1:3394527	0	T	3394527	C	T	3394527	3	4	88	1	0	0	0	0	1	0	0	0	901	739	26	2	1600	2	ARHGEF16	1	3394527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92782	3394527	245856094	44	7756											
MEGF6	1953	broad.mit.edu	37	chr1	3413807	3413807	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcacctaccctgctcgcaGccggagccagtgaagccagg	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3413807G>T	ENST00000356575.4	-	27	3697	c.3471C>A	c.(3469-3471)ggC>ggA	p.G1157G	MEGF6_ENST00000294599.4_Silent_p.G966G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1157	EGF-like 21.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CCTGCTCGCAGCCGGAGCCAG	0.721													False	0	False	1:3413807	0	T	3413807	G	T	3413807	2	4	88	1	0	0	0	0	0	0	0	1	9529	958	34	3		3	MEGF6	1	3413807	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19280	3413807	245836814	45	7757											
MEGF6	1953	broad.mit.edu	37	chr1	3432077	3432077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccgccattgcccagggCgcaggagttaatggctgggg	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3432077C>T	ENST00000356575.4	-	6	845	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	MEGF6_ENST00000294599.4_Missense_Mutation_p.A102T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	207	EGF-like 3.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TTGCCCAGGGCGCAGGAGTTA	0.662													False	0	True	1:3432077	0	T	3432077	C	T	3432077	3	4	88	1	0	0	0	0	1	0	0	0	9529	768	27	1	4134	1	MEGF6	1	3432077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18270	3432077	245818544	46	7758											
CCDC27	148870	broad.mit.edu	37	chr1	3683818	3683818	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtcggaactggagagaAagctcaccaagcgggactgt	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3683818A>G	ENST00000294600.2	+	10	1636	c.1552A>G	c.(1552-1554)Aag>Gag	p.K518E		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	518										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACTGGAGAGAAAGCTCACCAA	0.562													False	0	True	1:3683818	0	G	3683818	A	G	3683818	3	3	88	1	0	0	0	0	1	0	0	0	2822	15	1	4	1590	4	CCDC27	1	3683818	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	251741	3683818	245566803	47	7759											
LRRC47	57470	broad.mit.edu	37	chr1	3699296	3699296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatccacaagacacgggtAattttcatttccatccagca	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3699296A>G	ENST00000378251.1	-	5	1369	c.1342T>C	c.(1342-1344)Tac>Cac	p.Y448H		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	448					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGACACGGGTAATTTTCATTT	0.438													False	0	False	1:3699296	0	G	3699296	A	G	3699296	3	3	88	1	0	0	0	0	1	0	0	0	9066	362	13	4	421	4	LRRC47	1	3699296	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15478	3699296	245551325	48	7760											
LRRC47	57470	broad.mit.edu	37	chr1	3703686	3703686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccctcggcacggcccttGcccttcccgccaccacggcc	10	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3703686G>A	ENST00000378251.1	-	2	831	c.804C>T	c.(802-804)ggC>ggT	p.G268G		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	268					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CACGGCCCTTGCCCTTCCCGC	0.657													False	0	True	1:3703686	0	A	3703686	G	A	3703686	2	1	88	1	0	0	0	0	0	0	0	1	9066	1306	46	2		2	LRRC47	1	3703686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4390	3703686	245546935	49	7761											
DFFB	1677	broad.mit.edu	37	chr1	3800135	3800135	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaaggaacaagatggaagaGaagtggactgggagtatttt	14	2	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3800135G>T	ENST00000378209.3	+	7	1170	c.847G>T	c.(847-849)Gaa>Taa	p.E283*		NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	283					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGATGGAAGAGAAGTGGACTG	0.413													False	0	False	1:3800135	0	T	3800135	G	T	3800135	4	4	88	1	0	0	0	0	0	1	0	0	4483	943	33	3	873	3	DFFB	1	3800135	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96449	3800135	245450486	50	7762											
C1orf174	339448	broad.mit.edu	37	chr1	3807396	3807396	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgcagccaccgagaggaaGacttgcagccccctgctgca	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3807396G>T	ENST00000361605.3	-	3	453	c.355C>A	c.(355-357)Ctt>Att	p.L119I	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	119								p.L119F(1)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		CCGAGAGGAAGACTTGCAGCC	0.567													False	0	False	1:3807396	0	T	3807396	G	T	3807396	3	4	88	1	0	0	0	0	1	0	0	0	2030	942	33	3	384	3	C1orf174	1	3807396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7261	3807396	245443225	51	7763											
AJAP1	55966	broad.mit.edu	37	chr1	4772030	4772030	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactgatagccatgtttcagCtcgccgtggacctgcccgcc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:4772030C>A	ENST00000378191.4	+	2	481	c.100C>A	c.(100-102)Ctc>Atc	p.L34I	AJAP1_ENST00000378190.3_Missense_Mutation_p.L34I|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	34					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CATGTTTCAGCTCGCCGTGGA	0.706													False	0	False	1:4772030	0	A	4772030	C	A	4772030	3	1	88	1	0	0	0	0	1	0	0	0	438	797	28	3	106	3	AJAP1	1	4772030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	964634	4772030	244478591	52	7764											
AJAP1	55966	broad.mit.edu	37	chr1	4772744	4772744	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcacccagcccccaaggattCtgggggaggcctcaggtaca	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:4772744C>A	ENST00000378191.4	+	2	1195	c.814C>A	c.(814-816)Ctg>Atg	p.L272M	AJAP1_ENST00000378190.3_Missense_Mutation_p.L272M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	272					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCCAAGGATTCTGGGGGAGGC	0.602													False	0	False	1:4772744	0	A	4772744	C	A	4772744	3	1	88	1	0	0	0	0	1	0	0	0	438	912	32	3	820	3	AJAP1	1	4772744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	714	4772744	244477877	53	7765											
NPHP4	261734	broad.mit.edu	37	chr1	5924003	5924003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggtcgctgtgcaggtGgaatgtcctccgggaggggt	20	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5924003G>T	ENST00000378156.4	-	29	4352	c.4087C>A	c.(4087-4089)Cac>Aac	p.H1363N	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1363					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTGCAGGTGGAATGTCCTC	0.632													False	0	False	1:5924003	0	T	5924003	G	T	5924003	3	4	88	1	0	0	0	0	1	0	0	0	10649	1348	47	3	201	3	NPHP4	1	5924003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1151259	5924003	243326618	54	7766											
NPHP4	261734	broad.mit.edu	37	chr1	5926444	5926444	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcacttacgagtaaatgatGacaaagaagtctttgatctc	8	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5926444G>A	ENST00000378156.4	-	26	3898	c.3633C>T	c.(3631-3633)gtC>gtT	p.V1211V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1211					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGTAAATGATGACAAAGAAGT	0.582													False	0	False	1:5926444	0	A	5926444	G	A	5926444	2	1	88	1	0	0	0	0	0	0	0	1	10649	1277	45	2		2	NPHP4	1	5926444	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2441	5926444	243324177	55	7767											
NPHP4	261734	broad.mit.edu	37	chr1	5935119	5935119	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccggtaggcggcgatgacCtgtaggtcccgcaagtgctg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5935119C>A	ENST00000378156.4	-	21	3124	c.2859G>T	c.(2857-2859)caG>caT	p.Q953H	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	953					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCGATGACCTGTAGGTCCC	0.672													False	0	False	1:5935119	0	A	5935119	C	A	5935119	3	1	88	1	0	0	0	0	1	0	0	0	10649	680	24	3	1461	3	NPHP4	1	5935119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8675	5935119	243315502	56	7768											
NPHP4	261734	broad.mit.edu	37	chr1	5964847	5964847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctttggccatgatgttcctCggcagtcctgggccactctg	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5964847C>T	ENST00000378156.4	-	16	2238	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	658					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGTTCCTCGGCAGTCCTG	0.547													False	0	False	1:5964847	0	T	5964847	C	T	5964847	3	4	88	1	0	0	0	0	1	0	0	0	10649	884	31	1	2367	1	NPHP4	1	5964847	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29728	5964847	243285774	57	7769											
NPHP4	261734	broad.mit.edu	37	chr1	5965437	5965437	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggttaaacgtcacaggttCtgtagcgctgacagcctcgg	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5965437C>T	ENST00000378156.4	-	15	2135	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	624					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GTCACAGGTTCTGTAGCGCTG	0.512													False	0	False	1:5965437	0	T	5965437	C	T	5965437	3	4	88	1	0	0	0	0	1	0	0	0	10649	922	32	2	2474	2	NPHP4	1	5965437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	590	5965437	243285184	58	7770											
NPHP4	261734	broad.mit.edu	37	chr1	6046288	6046288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccttccaaggctggcgcGctctctgtgggtggggaggg	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6046288G>A	ENST00000378156.4	-	2	327	c.62C>T	c.(61-63)gCg>gTg	p.A21V	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	21					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCTGGCGCGCTCTCTGTGG	0.577													False	0	True	1:6046288	0	A	6046288	G	A	6046288	3	1	88	1	0	0	0	0	1	0	0	0	10649	1087	38	1	4334	1	NPHP4	1	6046288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80851	6046288	243204333	59	7771											
NPHP4	261734	broad.mit.edu	37	chr1	6046333	6046333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgttttgggtgaagatcCtgtgccagtcgttcatcctg	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6046333C>T	ENST00000378156.4	-	2	282	c.17G>A	c.(16-18)aGg>aAg	p.R6K	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	6					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGAAGATCCTGTGCCAGTC	0.577													False	0	False	1:6046333	0	T	6046333	C	T	6046333	3	4	88	1	0	0	0	0	1	0	0	0	10649	681	24	2	4379	2	NPHP4	1	6046333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	6046333	243204288	60	7772											
KCNAB2	8514	broad.mit.edu	37	chr1	6155597	6155597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcctcttcaggagtgggCgccatgacctggtcccctct	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6155597C>T	ENST00000164247.1	+	13	1281	c.717C>T	c.(715-717)ggC>ggT	p.G239G	KCNAB2_ENST00000352527.1_Silent_p.G225G|KCNAB2_ENST00000341524.1_Silent_p.G239G|KCNAB2_ENST00000378097.1_Silent_p.G239G|KCNAB2_ENST00000378083.3_Silent_p.G287G|KCNAB2_ENST00000602612.1_Silent_p.G239G|KCNAB2_ENST00000378092.1_Silent_p.G225G|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000458166.2_Silent_p.G172G|KCNAB2_ENST00000378087.3_Intron	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	239						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAGTGGGCGCCATGACCT	0.632													False	0	True	1:6155597	0	T	6155597	C	T	6155597	2	4	88	1	0	0	0	0	0	0	0	1	8060	755	27	1		1	KCNAB2	1	6155597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109264	6155597	243095024	61	7773											
CHD5	26038	broad.mit.edu	37	chr1	6166503	6166503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtagttgacaatccctcCcggtccagggccccggaagt	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6166503C>T	ENST00000262450.3	-	40	5908	c.5809G>A	c.(5809-5811)Gga>Aga	p.G1937R	CHD5_ENST00000378021.1_Intron	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1937					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACAATCCCTCCCGGTCCAGGG	0.657													False	0	True	1:6166503	0	T	6166503	C	T	6166503	3	4	88	1	0	0	0	0	1	0	0	0	3351	632	22	2	63	2	CHD5	1	6166503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10906	6166503	243084118	62	7774											
CHD5	26038	broad.mit.edu	37	chr1	6169927	6169927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgctggtggctctcggCgaggcactccacttcagcca	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6169927C>T	ENST00000262450.3	-	38	5605	c.5506G>A	c.(5506-5508)Gcc>Acc	p.A1836T	CHD5_ENST00000378021.1_Missense_Mutation_p.A693T	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1836					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.A1836T(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCTCTCGGCGAGGCACTCC	0.662													False	0	False	1:6169927	0	T	6169927	C	T	6169927	3	4	88	1	0	0	0	0	1	0	0	0	3351	768	27	1	374	1	CHD5	1	6169927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3424	6169927	243080694	63	7775											
CHD5	26038	broad.mit.edu	37	chr1	6181169	6181169	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaagaagccccaacctctCggcagctgctccggggaggg	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6181169C>T	ENST00000262450.3	-	33	5007	c.4908G>A	c.(4906-4908)ccG>ccA	p.P1636P	CHD5_ENST00000378021.1_Silent_p.P493P	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1636					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCCAACCTCTCGGCAGCTGCT	0.652													False	0	False	1:6181169	0	T	6181169	C	T	6181169	2	4	88	1	0	0	0	0	0	0	0	1	3351	871	31	1		1	CHD5	1	6181169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11242	6181169	243069452	64	7776											
CHD5	26038	broad.mit.edu	37	chr1	6184720	6184720	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgaagagggacacataggCtctggggtggggggggggga	22	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6184720C>A	ENST00000262450.3	-	30	4495	c.4396G>T	c.(4396-4398)Gcc>Tcc	p.A1466S	CHD5_ENST00000378021.1_Splice_Site_p.A323S	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1466					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GACACATAGGCTCTGGGGTGG	0.692													False	0	False	1:6184720	0	A	6184720	C	A	6184720	5	1	88	1	0	0	0	0	0	0	1	0	3351	811	28	3	1516	3	CHD5	1	6184720	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3551	6184720	243065901	65	7777											
CHD5	26038	broad.mit.edu	37	chr1	6190296	6190296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcgggttccagtccgagtCgtagatgatgacagtgtccg	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6190296C>T	ENST00000262450.3	-	22	3454	c.3355G>A	c.(3355-3357)Gac>Aac	p.D1119N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1119	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGTCCGAGTCGTAGATGATG	0.642													False	0	False	1:6190296	0	T	6190296	C	T	6190296	3	4	88	1	0	0	0	0	1	0	0	0	3351	884	31	1	2589	1	CHD5	1	6190296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5576	6190296	243060325	66	7778											
CHD5	26038	broad.mit.edu	37	chr1	6202222	6202222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttcccactccgaatgGcgttgtcctcaaaggaaaac	7	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6202222G>A	ENST00000262450.3	-	15	2501	c.2402C>T	c.(2401-2403)gCc>gTc	p.A801V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	801	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTCCGAATGGCGTTGTCCTC	0.577													False	0	False	1:6202222	0	A	6202222	G	A	6202222	3	1	88	1	0	0	0	0	1	0	0	0	3351	1203	42	2	3570	2	CHD5	1	6202222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11926	6202222	243048399	67	7779											
CHD5	26038	broad.mit.edu	37	chr1	6211106	6211106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatactcctcttcttcttgCgcctcctcttgctcttcttg	4	16	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6211106C>T	ENST00000262450.3	-	7	1079	c.980G>A	c.(979-981)cGc>cAc	p.R327H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	327					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTTCTTCTTGCGCCTCCTCTT	0.602													False	0	False	1:6211106	0	T	6211106	C	T	6211106	3	4	88	1	0	0	0	0	1	0	0	0	3351	768	27	1	5024	1	CHD5	1	6211106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8884	6211106	243039515	68	7780											
CHD5	26038	broad.mit.edu	37	chr1	6214959	6214959	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttggcaatgagtggcCtgtagggggagaggcaggag	18	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6214959C>T	ENST00000262450.3	-	5	606		c.e5-1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AATGAGTGGCCTGTAGGGGGA	0.617													False	0	False	1:6214959	0	T	6214959	C	T	6214959	5	4	88	1	0	0	0	0	0	0	1	0	3351	695	24	2	5506	2	CHD5	1	6214959	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3853	6214959	243035662	69	7781											
CHD5	26038	broad.mit.edu	37	chr1	6215750	6215750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtccaggccccactcggCcatgagctgccccgaggact	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6215750C>A	ENST00000262450.3	-	4	514	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	139					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCCCACTCGGCCATGAGCTGC	0.627													False	0	False	1:6215750	0	A	6215750	C	A	6215750	3	1	88	1	0	0	0	0	1	0	0	0	3351	739	26	3	5601	3	CHD5	1	6215750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	791	6215750	243034871	70	7782											
GPR153	387509	broad.mit.edu	37	chr1	6313786	6313786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtcacccaccagcacagGgaagcccatgaggcagtcgt	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6313786G>A	ENST00000377893.2	-	3	1037	c.778C>T	c.(778-780)Cct>Tct	p.P260S		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	260						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ACCAGCACAGGGAAGCCCATG	0.632													False	0	True	1:6313786	0	A	6313786	G	A	6313786	3	1	88	1	0	0	0	0	1	0	0	0	6705	1232	43	2	1067	2	GPR153	1	6313786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98036	6313786	242936835	71	7783											
ACOT7	11332	broad.mit.edu	37	chr1	6324691	6324691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgtggccctgtcgcttcGccttcatctgcaggtaccgc	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6324691G>A	ENST00000361521.4	-	9	2070	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	ACOT7_ENST00000377842.3_Missense_Mutation_p.A319V|ACOT7_ENST00000545482.1_Missense_Mutation_p.A255V|ACOT7_ENST00000608083.1_Missense_Mutation_p.A328V|ACOT7_ENST00000377855.2_Missense_Mutation_p.A370V|ACOT7_ENST00000377845.3_Missense_Mutation_p.A340V	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	370						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CTGTCGCTTCGCCTTCATCTG	0.622													False	0	False	1:6324691	0	A	6324691	G	A	6324691	3	1	88	1	0	0	0	0	1	0	0	0	155	1087	38	1	37	1	ACOT7	1	6324691	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10905	6324691	242925930	72	7784											
HES2	54626	broad.mit.edu	37	chr1	6479365	6479365	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagcgcacggtcatttccagGacgtctgccttctctagctt	9	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6479365G>T	ENST00000377834.4	-	3	275	c.177C>A	c.(175-177)gtC>gtA	p.V59V	HES2_ENST00000489730.1_Silent_p.V59V|HES2_ENST00000377836.4_Intron|HES2_ENST00000487437.1_Intron|HES2_ENST00000377837.1_Intron	NM_019089.4	NP_061962.2	Q9Y543	HES2_HUMAN	hes family bHLH transcription factor 2	59	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				lung(1)|ovary(1)	2	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.02e-35)|GBM - Glioblastoma multiforme(13;1.75e-28)|Colorectal(212;6.1e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000888)|BRCA - Breast invasive adenocarcinoma(365;0.00106)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCATTTCCAGGACGTCTGCCT	0.652													False	0	False	1:6479365	0	T	6479365	G	T	6479365	2	4	88	1	0	0	0	0	0	0	0	1	7113	1161	41	3		3	HES2	1	6479365	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154674	6479365	242771256	73	7785											
NOL9	79707	broad.mit.edu	37	chr1	6592123	6592123	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggacagatctcgaagaaTtttgttatgtgactctctga	10	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6592123T>C	ENST00000377705.5	-	9	1584	c.1552A>G	c.(1552-1554)Att>Gtt	p.I518V		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	518					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCGAAGAATTTTGTTATGT	0.463													False	0	True	1:6592123	0	C	6592123	T	C	6592123	3	2	88	1	0	0	0	0	1	0	0	0	10596	1493	52	4	572	4	NOL9	1	6592123	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	112758	6592123	242658498	74	7786											
TAS1R1	0	broad.mit.edu	37	chr1	6639462	6639462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttcaccacggccagcGtctacgacggcaagtacctg	9	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6639462G>A	ENST00000333172.6	+	6	2537	c.2344G>A	c.(2344-2346)Gtc>Atc	p.V782I	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.V528I	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	782					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CACGGCCAGCGTCTACGACGG	0.567													False	0	False	1:6639462	0	A	6639462	G	A	6639462	3	1	88	1	0	0	0	0	1	0	0	0	15644	1145	40	1	2366	1	TAS1R1	1	6639462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47339	6639462	242611159	75	7787											
THAP3	90326	broad.mit.edu	37	chr1	6692877	6692877	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcgccacggaggccgcaaGcaacagaggctgttggccgg	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6692877G>T	ENST00000054650.4	+	6	618	c.460G>T	c.(460-462)Gca>Tca	p.A154S	THAP3_ENST00000377627.3_Intron|THAP3_ENST00000307896.6_Missense_Mutation_p.A153S	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	154							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCCGCAAGCAACAGAGGC	0.622													False	0	True	1:6692877	0	T	6692877	G	T	6692877	3	4	88	1	0	0	0	0	1	0	0	0	15927	986	34	3		3	THAP3	1	6692877	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53415	6692877	242557744	76	7788											
THAP3	90326	broad.mit.edu	37	chr1	6693075	6693075	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgaaggatgtccagccgcCtccgtgcttgcaaagggcac	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6693075C>A	ENST00000054650.4	+	6	816	c.658C>A	c.(658-660)Ctc>Atc	p.L220I	THAP3_ENST00000377627.3_Intron|THAP3_ENST00000307896.6_Missense_Mutation_p.L219I	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	220							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GTCCAGCCGCCTCCGTGCTTG	0.602													False	0	False	1:6693075	0	A	6693075	C	A	6693075	3	1	88	1	0	0	0	0	1	0	0	0	15927	696	24	3		3	THAP3	1	6693075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	6693075	242557546	77	7789											
DNAJC11	55735	broad.mit.edu	37	chr1	6694606	6694606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccaccacctgtgcggcGcttgctccgaggggtcagca	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6694606G>A	ENST00000349363.6	-	8	978	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	THAP3_ENST00000377627.3_3'UTR|DNAJC11_ENST00000377577.5_3'UTR|DNAJC11_ENST00000465508.1_5'UTR			Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	0					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGTGCGGCGCTTGCTCCGA	0.677													False	0	False	1:6694606	0	A	6694606	G	A	6694606	3	1	88	1	0	0	0	0	1	0	0	0	4660	1102	38	1		1	DNAJC11	1	6694606	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1531	6694606	242556015	78	7790											
CAMTA1	23261	broad.mit.edu	37	chr1	7700507	7700507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacgtgccggccatcgaGgactgcggcaagccttgcgg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7700507G>T	ENST00000303635.7	+	7	765	c.558G>T	c.(556-558)gaG>gaT	p.E186D	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186D	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGGCCATCGAGGACTGCGGCA	0.612			T	WWTR1	epitheliod hemangioendothelioma								False	0	False	1:7700507	0	T	7700507	G	T	7700507	3	4	88	1	0	0	0	0	1	0	0	0	2633	991	35	3	584	3	CAMTA1	1	7700507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1005901	7700507	241550114	79	7791											
CAMTA1	23261	broad.mit.edu	37	chr1	7724340	7724340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcggcggcctgagtcccaGcaccaccctggagcagatgg	16	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7724340G>A	ENST00000303635.7	+	9	1940	c.1733G>A	c.(1732-1734)aGc>aAc	p.S578N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S578N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGAGTCCCAGCACCACCCTG	0.672			T	WWTR1	epitheliod hemangioendothelioma								False	0	False	1:7724340	0	A	7724340	G	A	7724340	3	1	88	1	0	0	0	0	1	0	0	0	2633	971	34	2	1767	2	CAMTA1	1	7724340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23833	7724340	241526281	80	7792											
CAMTA1	23261	broad.mit.edu	37	chr1	7724600	7724600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcggtcacgtggagacgCggatcgagtccacttcctcc	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7724600C>T	ENST00000303635.7	+	9	2200	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R665W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGTGGAGACGCGGATCGAGTC	0.637			T	WWTR1	epitheliod hemangioendothelioma								False	0	False	1:7724600	0	T	7724600	C	T	7724600	3	4	88	1	0	0	0	0	1	0	0	0	2633	759	27	1	2027	1	CAMTA1	1	7724600	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	260	7724600	241526021	81	7793											
CAMTA1	23261	broad.mit.edu	37	chr1	7737765	7737765	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctgcccacgctcccttcCtcccagcacgactggctgtc	8	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7737765C>A	ENST00000303635.7	+	11	3093	c.2886C>A	c.(2884-2886)tcC>tcA	p.S962S	CAMTA1_ENST00000439411.2_Silent_p.S962S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	962					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGCTCCCTTCCTCCCAGCACG	0.567			T	WWTR1	epitheliod hemangioendothelioma								False	0	False	1:7737765	0	A	7737765	C	A	7737765	2	1	88	1	0	0	0	0	0	0	0	1	2633	668	24	3		3	CAMTA1	1	7737765	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13165	7737765	241512856	82	7794											
CAMTA1	23261	broad.mit.edu	37	chr1	7811265	7811265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcccctgcagtacgcaCtttataaaaagatgacacag	7	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7811265C>T	ENST00000303635.7	+	20	4903	c.4696C>T	c.(4696-4698)Ctt>Ttt	p.L1566F	CAMTA1_ENST00000476864.1_Missense_Mutation_p.L130F|CAMTA1_ENST00000439411.2_Missense_Mutation_p.L1552F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1566	IQ 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCAGTACGCACTTTATAAAAA	0.488			T	WWTR1	epitheliod hemangioendothelioma								False	0	True	1:7811265	0	T	7811265	C	T	7811265	3	4	88	1	0	0	0	0	1	0	0	0	2633	565	20	2	4774	2	CAMTA1	1	7811265	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73500	7811265	241439356	83	7795											
PER3	8863	broad.mit.edu	37	chr1	7863170	7863170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcgatcctaagctacctGcaccctgaagatcgttctct	6	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7863170G>A	ENST00000377532.3	+	8	1160	c.936G>A	c.(934-936)ctG>ctA	p.L312L	PER3_ENST00000361923.2_Silent_p.L311L|PER3_ENST00000377541.1_Silent_p.L311L			P56645	PER3_HUMAN	period circadian clock 3	311	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TAAGCTACCTGCACCCTGAAG	0.443													False	0	False	1:7863170	0	A	7863170	G	A	7863170	2	1	88	1	0	0	0	0	0	0	0	1	11799	1306	46	2		2	PER3	1	7863170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51905	7863170	241387451	84	7796											
SLC45A1	50651	broad.mit.edu	37	chr1	8390438	8390438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagaggccgctgcggccGccgagtgagaagcgggcagc	18	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8390438G>A	ENST00000471889.1	+	5	1270	c.885G>A	c.(883-885)ccG>ccA	p.P295P	SLC45A1_ENST00000377479.2_Silent_p.P329P|SLC45A1_ENST00000289877.8_Silent_p.P295P			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	295					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGCGGCCGCCGAGTGAGA	0.692													False	0	False	1:8390438	0	A	8390438	G	A	8390438	2	1	88	1	0	0	0	0	0	0	0	1	14720	1074	38	1		1	SLC45A1	1	8390438	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	527268	8390438	240860183	85	7797											
SLC45A1	50651	broad.mit.edu	37	chr1	8390791	8390791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccgacggcttctaccGccaggaccgtggacttctgg	13	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8390791G>A	ENST00000471889.1	+	5	1623	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	SLC45A1_ENST00000377479.2_Missense_Mutation_p.R447H|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000289877.8_Missense_Mutation_p.R413H			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	413					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCTACCGCCAGGACCGT	0.687													False	0	False	1:8390791	0	A	8390791	G	A	8390791	3	1	88	1	0	0	0	0	1	0	0	0	14720	1087	38	1	1252	1	SLC45A1	1	8390791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	8390791	240859830	86	7798											
RERE	473	broad.mit.edu	37	chr1	8418946	8418946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgagctgtgggtcactgaGgcgaccttcatgcgctgagc	14	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8418946G>A	ENST00000337907.3	-	21	4283	c.3649C>T	c.(3649-3651)Ctc>Ttc	p.L1217F	RERE_ENST00000377464.1_Missense_Mutation_p.L949F|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.L1217F|RERE_ENST00000476556.1_Missense_Mutation_p.L663F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1217					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGTCACTGAGGCGACCTTCA	0.642													False	0	False	1:8418946	0	A	8418946	G	A	8418946	3	1	88	1	0	0	0	0	1	0	0	0	13310	1000	35	2	1067	2	RERE	1	8418946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28155	8418946	240831675	87	7799											
RERE	473	broad.mit.edu	37	chr1	8421825	8421825	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcagcaaacctcacctGcgtttttgtcttcttggagc	8	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8421825G>A	ENST00000337907.3	-	18	2648	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*	RERE_ENST00000377464.1_Nonsense_Mutation_p.Q404*|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Nonsense_Mutation_p.Q672*|RERE_ENST00000476556.1_Nonsense_Mutation_p.Q118*	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	672					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AACCTCACCTGCGTTTTTGTC	0.562													False	0	False	1:8421825	0	A	8421825	G	A	8421825	4	1	88	1	0	0	0	0	0	1	0	0	13310	1328	46	2	2714	2	RERE	1	8421825	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2879	8421825	240828796	88	7800											
RERE	473	broad.mit.edu	37	chr1	8424198	8424198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgggtttgaacataaacGgtggcgggtccacgggcttc	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8424198G>A	ENST00000337907.3	-	16	2292	c.1658C>T	c.(1657-1659)cCg>cTg	p.P553L	RERE_ENST00000377464.1_Missense_Mutation_p.P285L|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P553L|RERE_ENST00000476556.1_5'UTR	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	553					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GAACATAAACGGTGGCGGGTC	0.602													False	0	False	1:8424198	0	A	8424198	G	A	8424198	3	1	88	1	0	0	0	0	1	0	0	0	13310	1116	39	1	3078	1	RERE	1	8424198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2373	8424198	240826423	89	7801											
RERE	473	broad.mit.edu	37	chr1	8716278	8716278	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcactctctcttgctttgtCtcttttctctctctctcggt	4	15	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8716278C>A	ENST00000337907.3	-	3	713	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	RERE_ENST00000400907.2_Missense_Mutation_p.D27Y|RERE_ENST00000400908.2_Missense_Mutation_p.D27Y	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	27					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTGCTTTGTCTCTTTTCtct	0.507													False	0	False	1:8716278	0	A	8716278	C	A	8716278	3	1	88	1	0	0	0	0	1	0	0	0	13310	913	32	3	4709	3	RERE	1	8716278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	292080	8716278	240534343	90	7802											
ENO1	2023	broad.mit.edu	37	chr1	8923343	8923343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgatgaaggtatcttcaGtctcccccgaacgatgagac	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8923343G>A	ENST00000234590.4	-	10	1246	c.1127C>T	c.(1126-1128)aCt>aTt	p.T376I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	376					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGTATCTTCAGTCTCCCCCGA	0.547											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:8923343	0	A	8923343	G	A	8923343	3	1	88	1	0	0	0	0	1	0	0	0	5153	1029	36	2	189	2	ENO1	1	8923343	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	207065	8923343	240327278	91	7803											
ENO1	2023	broad.mit.edu	37	chr1	8931976	8931976	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccatatagcgagtcttatcaTtgtcccggagctctagggcc	10	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8931976T>A	ENST00000234590.4	-	3	274	c.155A>T	c.(154-156)aAt>aTt	p.N52I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	52					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGTCTTATCATTGTCCCGGAG	0.542											OREG0013069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:8931976	0	A	8931976	T	A	8931976	3	1	88	1	0	0	0	0	1	0	0	0	5153	1493	52	5	1189	5	ENO1	1	8931976	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8633	8931976	240318645	92	7804											
CA6	765	broad.mit.edu	37	chr1	9011647	9011647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgctgagtgcgggcttcGtgctgagggcccagaagagg	18	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9011647G>A	ENST00000480186.3	+	3	430	c.425G>A	c.(424-426)cGt>cAt	p.R142H	CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000377443.2_Intron			P23280	CAH6_HUMAN	carbonic anhydrase VI						one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TGCGGGCTTCGTGCTGAGGGC	0.592													False	0	False	1:9011647	0	A	9011647	G	A	9011647	3	1	88	1	0	0	0	0	1	0	0	0	2541	1160	40	1		1	CA6	1	9011647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79671	9011647	240238974	93	7805											
CA6	765	broad.mit.edu	37	chr1	9030969	9030969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggatcaccgcaacaagaCcatccacaacgattaccgca	6	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9030969C>T	ENST00000377443.2	+	7	777	c.773C>T	c.(772-774)aCc>aTc	p.T258I	CA6_ENST00000377442.2_Missense_Mutation_p.T198I|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.T258I	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	258					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CGCAACAAGACCATCCACAAC	0.512													False	0	False	1:9030969	0	T	9030969	C	T	9030969	3	4	88	1	0	0	0	0	1	0	0	0	2541	507	18	2	799	2	CA6	1	9030969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19322	9030969	240219652	94	7806											
GPR157	80045	broad.mit.edu	37	chr1	9188913	9188913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtaggaggcggccgagagCaggtcggccagcgacaggaa	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9188913C>T	ENST00000377411.4	-	1	316	c.174G>A	c.(172-174)ctG>ctA	p.L58L	GPR157_ENST00000414642.2_Silent_p.L58L	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	58						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CGGCCGAGAGCAGGTCGGCCA	0.721													False	0	False	1:9188913	0	T	9188913	C	T	9188913	2	4	88	1	0	0	0	0	0	0	0	1	6708	697	25	2		2	GPR157	1	9188913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157944	9188913	240061708	95	7807											
H6PD	9563	broad.mit.edu	37	chr1	9305205	9305205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgctctgacagcccccaAgcagggtcaagagctcatgg	12	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9305205A>G	ENST00000377403.2	+	2	514	c.212A>G	c.(211-213)aAg>aGg	p.K71R	H6PD_ENST00000602477.1_Missense_Mutation_p.K82R	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	71	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	ACAGCCCCCAAGCAGGGTCAA	0.572													False	0	False	1:9305205	0	G	9305205	A	G	9305205	3	3	88	1	0	0	0	0	1	0	0	0	6983	72	3	4	214	4	H6PD	1	9305205	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116292	9305205	239945416	96	7808											
H6PD	9563	broad.mit.edu	37	chr1	9324603	9324603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagccctggtggccaacaGcagcttcgacctggtgctgc	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324603G>T	ENST00000377403.2	+	5	2353	c.2051G>T	c.(2050-2052)aGc>aTc	p.S684I	H6PD_ENST00000602477.1_Missense_Mutation_p.S695I	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	684	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GTGGCCAACAGCAGCTTCGAC	0.667													False	0	False	1:9324603	0	T	9324603	G	T	9324603	3	4	88	1	0	0	0	0	1	0	0	0	6983	971	34	3	2065	3	H6PD	1	9324603	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19398	9324603	239926018	97	7809											
H6PD	9563	broad.mit.edu	37	chr1	9324735	9324735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcccagccacaccgccGcatgagccttagcctgcctc	7	22	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324735G>A	ENST00000377403.2	+	5	2485	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	H6PD_ENST00000602477.1_Missense_Mutation_p.R739H	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	728	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CCACACCGCCGCATGAGCCTT	0.657													False	0	False	1:9324735	0	A	9324735	G	A	9324735	3	1	88	1	0	0	0	0	1	0	0	0	6983	1087	38	1	2197	1	H6PD	1	9324735	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132	9324735	239925886	98	7810											
H6PD	9563	broad.mit.edu	37	chr1	9324884	9324884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgtcctgccgcactccGgccagctggtgtggtacatg	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324884G>A	ENST00000377403.2	+	5	2634	c.2332G>A	c.(2332-2334)Ggc>Agc	p.G778S	H6PD_ENST00000602477.1_Missense_Mutation_p.G789S	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	778	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCCGCACTCCGGCCAGCTGGT	0.647													False	0	False	1:9324884	0	A	9324884	G	A	9324884	3	1	88	1	0	0	0	0	1	0	0	0	6983	1116	39	1	2346	1	H6PD	1	9324884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	9324884	239925737	99	7811											
SPSB1	80176	broad.mit.edu	37	chr1	9416403	9416403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcaaccggctctaccaCgatggcaagaaccagccaag	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9416403C>T	ENST00000328089.6	+	2	794	c.453C>T	c.(451-453)caC>caT	p.H151H	SPSB1_ENST00000377399.2_Silent_p.H151H|SPSB1_ENST00000357898.3_Silent_p.H151H	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	151	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGCTCTACCACGATGGCAAGA	0.592													False	0	False	1:9416403	0	T	9416403	C	T	9416403	2	4	88	1	0	0	0	0	0	0	0	1	15194	535	19	1		1	SPSB1	1	9416403	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91519	9416403	239834218	100	7812											
SPSB1	80176	broad.mit.edu	37	chr1	9416645	9416645	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacttgaacggactcgatcGtaagtgtctcctctgctgtc	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9416645G>A	ENST00000328089.6	+	2	1035		c.e2+1		SPSB1_ENST00000377399.2_Splice_Site|SPSB1_ENST00000357898.3_Splice_Site	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1						intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGACTCGATCGTAAGTGTCTC	0.532													False	0	False	1:9416645	0	A	9416645	G	A	9416645	5	1	88	1	0	0	0	0	0	0	1	0	15194	1159	40	1	697	1	SPSB1	1	9416645	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242	9416645	239833976	101	7813											
TMEM201	199953	broad.mit.edu	37	chr1	9661306	9661306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accactgtgcccctggccctGccacctggtggcaatggctc	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9661306G>A	ENST00000340305.5	+	5	759	c.750G>A	c.(748-750)ctG>ctA	p.L250L	TMEM201_ENST00000377376.4_Silent_p.L250L|TMEM201_ENST00000340381.6_Silent_p.L250L	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	250						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGGCCCTGCCACCTGGTG	0.697													False	0	False	1:9661306	0	A	9661306	G	A	9661306	2	1	88	1	0	0	0	0	0	0	0	1	16208	1306	46	2		2	TMEM201	1	9661306	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244661	9661306	239589315	102	7814											
TMEM201	199953	broad.mit.edu	37	chr1	9661466	9661466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgggcgtcgtggcactgGgcctactcacctgcctgctg	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9661466G>A	ENST00000340305.5	+	5	919	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	TMEM201_ENST00000377376.4_Missense_Mutation_p.G304S|TMEM201_ENST00000340381.6_Missense_Mutation_p.G304S	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	304						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGGCACTGGGCCTACTCAC	0.672													False	0	True	1:9661466	0	A	9661466	G	A	9661466	3	1	88	1	0	0	0	0	1	0	0	0	16208	1232	43	2	928	2	TMEM201	1	9661466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160	9661466	239589155	103	7815											
PIK3CD	5293	broad.mit.edu	37	chr1	9776551	9776551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccgctggcgctgatggcCtgtgccctgcggaagaaggc	17	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9776551C>T	ENST00000536656.1	+	6	862	c.654C>T	c.(652-654)gcC>gcT	p.A218A	PIK3CD_ENST00000377346.4_Silent_p.A218A|PIK3CD_ENST00000361110.2_Silent_p.A218A			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	218					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CGCTGATGGCCTGTGCCCTGC	0.657													False	0	False	1:9776551	0	T	9776551	C	T	9776551	2	4	88	1	0	0	0	0	0	0	0	1	11984	668	24	2		2	PIK3CD	1	9776551	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115085	9776551	239474070	104	7816											
PIK3CD	5293	broad.mit.edu	37	chr1	9780047	9780047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttaagaccggggaacgCtgcctctacatgtggccctc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9780047C>T	ENST00000536656.1	+	10	1414	c.1206C>T	c.(1204-1206)cgC>cgT	p.R402R	PIK3CD_ENST00000543390.1_Silent_p.R104R|PIK3CD_ENST00000377346.4_Silent_p.R437R|PIK3CD_ENST00000361110.2_Silent_p.R402R			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	437					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CCGGGGAACGCTGCCTCTACA	0.622													False	0	False	1:9780047	0	T	9780047	C	T	9780047	2	4	88	1	0	0	0	0	0	0	0	1	11984	784	28	2		2	PIK3CD	1	9780047	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3496	9780047	239470574	105	7817											
PIK3CD	5293	broad.mit.edu	37	chr1	9780912	9780912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagcacttcccggaggCgctagcccggctgctgctgg	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9780912C>T	ENST00000536656.1	+	13	1914	c.1706C>T	c.(1705-1707)gCg>gTg	p.A569V	PIK3CD_ENST00000543390.1_Missense_Mutation_p.A212V|PIK3CD_ENST00000377346.4_Missense_Mutation_p.A545V|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A569V			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	545					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TTCCCGGAGGCGCTAGCCCGG	0.667													False	0	False	1:9780912	0	T	9780912	C	T	9780912	3	4	88	1	0	0	0	0	1	0	0	0	11984	768	27	1	1676	1	PIK3CD	1	9780912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	865	9780912	239469709	106	7818											
PIK3CD	5293	broad.mit.edu	37	chr1	9781612	9781612	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgggccctggccaaccGcaagatcggccacttccttt	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9781612G>T	ENST00000536656.1	+	15	2202	c.1994G>T	c.(1993-1995)cGc>cTc	p.R665L	PIK3CD_ENST00000543390.1_Missense_Mutation_p.R308L|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R641L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R665L			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	641					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGCCAACCGCAAGATCGGC	0.622											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:9781612	0	T	9781612	G	T	9781612	3	4	88	1	0	0	0	0	1	0	0	0	11984	1087	38	3	1972	3	PIK3CD	1	9781612	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	700	9781612	239469009	107	7819											
PIK3CD	5293	broad.mit.edu	37	chr1	9782362	9782362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggatcatgtacagcaaCgaggaggcaggcagcggcgg	17	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9782362C>T	ENST00000536656.1	+	18	2575	c.2367C>T	c.(2365-2367)aaC>aaT	p.N789N	PIK3CD_ENST00000377346.4_Silent_p.N765N|PIK3CD_ENST00000361110.2_Silent_p.N789N			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	765	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TGTACAGCAACGAGGAGGCAG	0.647													False	0	False	1:9782362	0	T	9782362	C	T	9782362	2	4	88	1	0	0	0	0	0	0	0	1	11984	535	19	1		1	PIK3CD	1	9782362	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	750	9782362	239468259	108	7820											
CLSTN1	22883	broad.mit.edu	37	chr1	9790629	9790629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttgcgttctgggggtcGccctgctccccctcctcctc	12	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9790629G>A	ENST00000377298.4	-	19	3675	c.2883C>T	c.(2881-2883)ggC>ggT	p.G961G	CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000377288.3_Silent_p.G942G|CLSTN1_ENST00000361311.4_Silent_p.G951G	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	961					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGGGGGTCGCCCTGCTCCC	0.637													False	0	True	1:9790629	0	A	9790629	G	A	9790629	2	1	88	1	0	0	0	0	0	0	0	1	3584	1074	38	1		1	CLSTN1	1	9790629	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8267	9790629	239459992	109	7821											
LZIC	84328	broad.mit.edu	37	chr1	9990509	9990509	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccagagcaagaattttgtctCcagagcctaagaaaaaagac	8	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9990509C>A	ENST00000377223.1	-	8	768	c.521G>T	c.(520-522)gGa>gTa	p.G174V	LZIC_ENST00000541052.1_Missense_Mutation_p.G195V|LZIC_ENST00000377213.1_Missense_Mutation_p.G174V|LZIC_ENST00000400903.2_Missense_Mutation_p.G174V	NM_032368.3	NP_115744.2	Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	174							beta-catenin binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		AATTTTGTCTCCAGAGCCTAA	0.313													False	0	False	1:9990509	0	A	9990509	C	A	9990509	3	1	88	1	0	0	0	0	1	0	0	0	9198	855	30	3	55	3	LZIC	1	9990509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199880	9990509	239260112	110	7822											
UBE4B	10277	broad.mit.edu	37	chr1	10205050	10205050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggaaagattccccactgGcaactagacaccgcgaaatg	9	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10205050G>A	ENST00000377157.3	+	17	2742	c.1681G>A	c.(1681-1683)Gca>Aca	p.A561T	UBE4B_ENST00000343090.6_Missense_Mutation_p.A806T|UBE4B_ENST00000253251.8_Missense_Mutation_p.A677T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	806					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTCCCCACTGGCAACTAGACA	0.378													False	0	False	1:10205050	0	A	10205050	G	A	10205050	3	1	88	1	0	0	0	0	1	0	0	0	16967	1203	42	2	2486	2	UBE4B	1	10205050	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214541	10205050	239045571	111	7823											
UBE4B	10277	broad.mit.edu	37	chr1	10239537	10239537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggcaccatcatggaccGctccatcatcctgcggcacc	8	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10239537G>A	ENST00000377157.3	+	26	4102	c.3041G>A	c.(3040-3042)cGc>cAc	p.R1014H	UBE4B_ENST00000343090.6_Missense_Mutation_p.R1255H|UBE4B_ENST00000253251.8_Missense_Mutation_p.R1126H	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1255					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.R1126H(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATCATGGACCGCTCCATCATC	0.597													False	0	False	1:10239537	0	A	10239537	G	A	10239537	3	1	88	1	0	0	0	0	1	0	0	0	16967	1087	38	1	3870	1	UBE4B	1	10239537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34487	10239537	239011084	112	7824											
KIF1B	23095	broad.mit.edu	37	chr1	10363814	10363814	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgctcaaaatggaaaaagtCttgccactgatcggatctca	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10363814C>T	ENST00000377093.4	+	21	2724	c.2571C>T	c.(2569-2571)gtC>gtT	p.V857V	KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Silent_p.V857V|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377086.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGGAAAAAGTCTTGCCACTGA	0.393													False	0	False	1:10363814	0	T	10363814	C	T	10363814	2	4	88	1	0	0	0	0	0	0	0	1	8334	900	32	2		2	KIF1B	1	10363814	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124277	10363814	238886807	113	7825											
KIF1B	23095	broad.mit.edu	37	chr1	10363995	10363995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagcttttagacgtggaCgtctgcgctggatgaggcaa	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10363995C>T	ENST00000377093.4	+	21	2905	c.2752C>T	c.(2752-2754)Cgt>Tgt	p.R918C	KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.R918C|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377086.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.R918S(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TAGACGTGGACGTCTGCGCTG	0.453													False	0	False	1:10363995	0	T	10363995	C	T	10363995	3	4	88	1	0	0	0	0	1	0	0	0	8334	536	19	1	2830	1	KIF1B	1	10363995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	181	10363995	238886626	114	7826											
KIF1B	23095	broad.mit.edu	37	chr1	10386320	10386320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggcattcgtggatgacGccggctctgacgcagggacg	16	10	1	3	rs142567076	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10386320G>A	ENST00000377086.1	+	27	3029	c.2827G>A	c.(2827-2829)Gcc>Acc	p.A943T	KIF1B_ENST00000263934.6_Missense_Mutation_p.A897T|KIF1B_ENST00000377081.1_Missense_Mutation_p.A943T			O60333	KIF1B_HUMAN	kinesin family member 1B	943					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.A897T(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGTGGATGACGCCGGCTCTGA	0.547													False	0	False	1:10386320	0	A	10386320	G	A	10386320	3	1	88	1	0	0	0	0	1	0	0	0	8334	1087	38	1	4272	1	KIF1B	1	10386320	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22325	10386320	238864301	115	7827											
KIF1B	23095	broad.mit.edu	37	chr1	10412734	10412734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaagctgcagttgatgCcatcctctccctaaatatta	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10412734C>T	ENST00000377086.1	+	38	4197	c.3995C>T	c.(3994-3996)gCc>gTc	p.A1332V	KIF1B_ENST00000263934.6_Missense_Mutation_p.A1286V|KIF1B_ENST00000377081.1_Missense_Mutation_p.A1332V|KIF1B_ENST00000465635.1_3'UTR			O60333	KIF1B_HUMAN	kinesin family member 1B	1332					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCAGTTGATGCCATCCTCTCC	0.438													False	0	False	1:10412734	0	T	10412734	C	T	10412734	3	4	88	1	0	0	0	0	1	0	0	0	8334	739	26	2	5484	2	KIF1B	1	10412734	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26414	10412734	238837887	116	7828											
PGD	5226	broad.mit.edu	37	chr1	10473299	10473299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaatacggcgtacccgtcAccctcattggtaatgttatg	10	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10473299A>G	ENST00000538557.1	+	8	1040	c.796A>G	c.(796-798)Acc>Gcc	p.T266A	PGD_ENST00000270776.8_Missense_Mutation_p.T279A|PGD_ENST00000541529.1_Missense_Mutation_p.T257A			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	279					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CGTACCCGTCACCCTCATTGG	0.537													False	0	True	1:10473299	0	G	10473299	A	G	10473299	3	3	88	1	0	0	0	0	1	0	0	0	11856	159	6	4	865	4	PGD	1	10473299	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60565	10473299	238777322	117	7829											
PEX14	5195	broad.mit.edu	37	chr1	10689807	10689807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcccccaggaggaaggCgagggggtggtggacgtcaa	20	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10689807C>T	ENST00000356607.4	+	9	977	c.897C>T	c.(895-897)ggC>ggT	p.G299G	PEX14_ENST00000538836.1_Silent_p.G235G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	299					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGGAGGAAGGCGAGGGGGTGG	0.657													False	0	False	1:10689807	0	T	10689807	C	T	10689807	2	4	88	1	0	0	0	0	0	0	0	1	11811	755	27	1		1	PEX14	1	10689807	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216508	10689807	238560814	118	7830											
PEX14	5195	broad.mit.edu	37	chr1	10689966	10689966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagggaggaccgccggggCggggatgggcagatcaacga	20	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10689966C>T	ENST00000356607.4	+	9	1136	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	PEX14_ENST00000538836.1_Silent_p.G288G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	352					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		ACCGCCGGGGCGGGGATGGGC	0.672													False	0	True	1:10689966	0	T	10689966	C	T	10689966	2	4	88	1	0	0	0	0	0	0	0	1	11811	755	27	1		1	PEX14	1	10689966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159	10689966	238560655	119	7831											
CASZ1	54897	broad.mit.edu	37	chr1	10699493	10699493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgccgcgctcctgcttctCgtgcttgcgcttgtgcgagt	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10699493C>T	ENST00000377022.3	-	21	5103	c.4786G>A	c.(4786-4788)Gag>Aag	p.E1596K	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCCTGCTTCTCGTGCTTGCGC	0.701													False	0	False	1:10699493	0	T	10699493	C	T	10699493	3	4	88	1	0	0	0	0	1	0	0	0	2705	893	31	1	497	1	CASZ1	1	10699493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9527	10699493	238551128	120	7832											
CASZ1	54897	broad.mit.edu	37	chr1	10714519	10714519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtccgtagaactggcagtCggctgtgccacagtcttcgg	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10714519C>T	ENST00000377022.3	-	10	2112	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	CASZ1_ENST00000344008.5_Missense_Mutation_p.D599N	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AACTGGCAGTCGGCTGTGCCA	0.597													False	0	False	1:10714519	0	T	10714519	C	T	10714519	3	4	88	1	0	0	0	0	1	0	0	0	2705	884	31	1	3536	1	CASZ1	1	10714519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15026	10714519	238536102	121	7833											
CASZ1	54897	broad.mit.edu	37	chr1	10720073	10720073	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggtgcaggtacttgacattCtccaggtcgtacttggatgg	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10720073C>T	ENST00000377022.3	-	6	1343	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	CASZ1_ENST00000344008.5_Silent_p.E342E	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACTTGACATTCTCCAGGTCGT	0.587													False	0	False	1:10720073	0	T	10720073	C	T	10720073	2	4	88	1	0	0	0	0	0	0	0	1	2705	912	32	2		2	CASZ1	1	10720073	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5554	10720073	238530548	122	7834											
CASZ1	54897	broad.mit.edu	37	chr1	10725412	10725412	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctcttgtcttcctcgctgCggggggcccgggctgcccca	14	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10725412C>A	ENST00000377022.3	-	5	550	c.233G>T	c.(232-234)cGc>cTc	p.R78L	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.R78L	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R78H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTCCTCGCTGCGGGGGGCCCG	0.701													False	0	True	1:10725412	0	A	10725412	C	A	10725412	3	1	88	1	0	0	0	0	1	0	0	0	2705	768	27	3	5118	3	CASZ1	1	10725412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5339	10725412	238525209	123	7835											
C1orf127	148345	broad.mit.edu	37	chr1	11008344	11008344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacctccgttccagagcaCgtttcctggggctctccggg	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11008344C>T	ENST00000377004.4	-	12	1847	c.1848G>A	c.(1846-1848)acG>acA	p.T616T	C1orf127_ENST00000377008.4_Silent_p.T449T	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	467										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TTCCAGAGCACGTTTCCTGGG	0.652													False	0	False	1:11008344	0	T	11008344	C	T	11008344	2	4	88	1	0	0	0	0	0	0	0	1	2009	523	19	1		1	C1orf127	1	11008344	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282932	11008344	238242277	124	7836											
TARDBP	23435	broad.mit.edu	37	chr1	11082189	11082189	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttcttatagattgcgcaGtctctttgtggagaggactt	10	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11082189G>A	ENST00000240185.3	+	6	837	c.723G>A	c.(721-723)caG>caA	p.Q241Q	TARDBP_ENST00000439080.2_Silent_p.Q125Q|TARDBP_ENST00000315091.3_Silent_p.Q241Q	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	241	RRM 2.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AGATTGCGCAGTCTCTTTGTG	0.333													False	0	False	1:11082189	0	A	11082189	G	A	11082189	2	1	88	1	0	0	0	0	0	0	0	1	15639	1020	36	2		2	TARDBP	1	11082189	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73845	11082189	238168432	125	7837											
MASP2	10747	broad.mit.edu	37	chr1	11090932	11090932	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatcatcaggagggccacaGtcaacaactaagaaagaagc	10	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11090932G>A	ENST00000400897.3	-	9	1110	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	365	Sushi 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GAGGGCCACAGTCAACAACTA	0.507													False	0	False	1:11090932	0	A	11090932	G	A	11090932	2	1	88	1	0	0	0	0	0	0	0	1	9390	1020	36	2		2	MASP2	1	11090932	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8743	11090932	238159689	126	7838											
MASP2	10747	broad.mit.edu	37	chr1	11106656	11106656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccccgtgaacggcttctcGttggagtagtcggagcggaa	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11106656G>A	ENST00000400897.3	-	3	384	c.369C>T	c.(367-369)aaC>aaT	p.N123N	MASP2_ENST00000400898.3_Silent_p.N123N	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	123	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		ACGGCTTCTCGTTGGAGTAGT	0.627													False	0	False	1:11106656	0	A	11106656	G	A	11106656	2	1	88	1	0	0	0	0	0	0	0	1	9390	1136	40	1		1	MASP2	1	11106656	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15724	11106656	238143965	127	7839											
EXOSC10	5394	broad.mit.edu	37	chr1	11142806	11142806	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacgttgcagtagagtttcaGgagatgatcgagtgagtgcc	14	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11142806G>T	ENST00000544779.1	-	10	1224	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M	EXOSC10_ENST00000304457.7_Missense_Mutation_p.L407M|EXOSC10_ENST00000376936.4_Missense_Mutation_p.L407M			Q01780	EXOSX_HUMAN	exosome component 10	407					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TAGAGTTTCAGGAGATGATCG	0.463													False	0	False	1:11142806	0	T	11142806	G	T	11142806	3	4	88	1	0	0	0	0	1	0	0	0	5346	991	35	3	1502	3	EXOSC10	1	11142806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36150	11142806	238107815	128	7840											
EXOSC10	5394	broad.mit.edu	37	chr1	11151608	11151608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaagccggcagggaggacaGgctgttgattcttgtttaca	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11151608G>T	ENST00000544779.1	-	4	424	c.419C>A	c.(418-420)cCt>cAt	p.P140H	EXOSC10_ENST00000304457.7_Missense_Mutation_p.P140H|EXOSC10_ENST00000376936.4_Missense_Mutation_p.P140H			Q01780	EXOSX_HUMAN	exosome component 10	140					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AGGGAGGACAGGCTGTTGATT	0.468													False	0	False	1:11151608	0	T	11151608	G	T	11151608	3	4	88	1	0	0	0	0	1	0	0	0	5346	1000	35	3	2326	3	EXOSC10	1	11151608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8802	11151608	238099013	129	7841											
MTOR	2475	broad.mit.edu	37	chr1	11194521	11194521	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcatgtgctggaaggcatcGatctgtaacaggacaaaggc	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11194521G>A	ENST00000361445.4	-	37	5209	c.5133C>T	c.(5131-5133)atC>atT	p.I1711I	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1711	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.I1711I(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGAAGGCATCGATCTGTAACA	0.542													False	0	False	1:11194521	0	A	11194521	G	A	11194521	2	1	88	1	0	0	0	0	0	0	0	1	10021	1048	37	1		1	MTOR	1	11194521	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42913	11194521	238056100	130	7842											
MTOR	2475	broad.mit.edu	37	chr1	11199383	11199383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcactcttccacatgTttttcatgtaggcataggtc	10	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11199383T>C	ENST00000361445.4	-	36	5184	c.5108A>G	c.(5107-5109)aAc>aGc	p.N1703S	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1703	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTTCCACATGTTTTTCATGTA	0.498													False	0	True	1:11199383	0	C	11199383	T	C	11199383	3	2	88	1	0	0	0	0	1	0	0	0	10021	1725	60	4	2633	4	MTOR	1	11199383	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4862	11199383	238051238	131	7843											
MTOR	2475	broad.mit.edu	37	chr1	11270930	11270930	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attgattcggtgtcgcaccaGaactttattcaccattggaa	8	9	1	2	rs139709356	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11270930G>T	ENST00000361445.4	-	24	3671	c.3595C>A	c.(3595-3597)Ctg>Atg	p.L1199M		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1199					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGTCGCACCAGAACTTTATTC	0.398													False	0	False	1:11270930	0	T	11270930	G	T	11270930	3	4	88	1	0	0	0	0	1	0	0	0	10021	933	33	3	4194	3	MTOR	1	11270930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71547	11270930	237979691	132	7844											
MTOR	2475	broad.mit.edu	37	chr1	11317062	11317062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttcacctcaaattccacGtactcagcggtaaaagtgtc	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11317062G>A	ENST00000361445.4	-	4	508	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	144					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAAATTCCACGTACTCAGCGG	0.577													False	0	False	1:11317062	0	A	11317062	G	A	11317062	2	1	88	1	0	0	0	0	0	0	0	1	10021	1140	40	1		1	MTOR	1	11317062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46132	11317062	237933559	133	7845											
PTCHD2	57540	broad.mit.edu	37	chr1	11561444	11561444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttaagtcccagtttggatCctgggggcggaaccggcgcg	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561444C>T	ENST00000294484.6	+	2	533	c.395C>T	c.(394-396)tCc>tTc	p.S132F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.S132F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	132					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGTTTGGATCCTGGGGGCGG	0.597													False	0	False	1:11561444	0	T	11561444	C	T	11561444	3	4	88	1	0	0	0	0	1	0	0	0	12809	855	30	2	397	2	PTCHD2	1	11561444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244382	11561444	237689177	134	7846											
PTCHD2	57540	broad.mit.edu	37	chr1	11561540	11561540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctgcatctcggcaaccGctcgcggcaagcctcccgag	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561540G>A	ENST00000294484.6	+	2	629	c.491G>A	c.(490-492)cGc>cAc	p.R164H	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R164H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	164					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCGGCAACCGCTCGCGGCAA	0.687													False	0	False	1:11561540	0	A	11561540	G	A	11561540	3	1	88	1	0	0	0	0	1	0	0	0	12809	1087	38	1	493	1	PTCHD2	1	11561540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96	11561540	237689081	135	7847											
PTCHD2	57540	broad.mit.edu	37	chr1	11561811	11561811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcccgccgaggcgcctcGcgctgggactactcgcgcgc	15	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561811G>A	ENST00000294484.6	+	2	900	c.762G>A	c.(760-762)tcG>tcA	p.S254S	PTCHD2_ENST00000389575.3_Silent_p.S254S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	254					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAGGCGCCTCGCGCTGGGACT	0.701													False	0	False	1:11561811	0	A	11561811	G	A	11561811	2	1	88	1	0	0	0	0	0	0	0	1	12809	1074	38	1		1	PTCHD2	1	11561811	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	271	11561811	237688810	136	7848											
FBXO44	93611	broad.mit.edu	37	chr1	11718605	11718605	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagcacctgcctcaagtcCcaggtggtggacctcaaggc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11718605C>A	ENST00000376768.1	+	4	481	c.379C>A	c.(379-381)Cca>Aca	p.P127T	FBXO44_ENST00000376770.1_Silent_p.S136S|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000251547.5_Silent_p.S136S			Q9H4M3	FBX44_HUMAN	F-box protein 44	0	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCAAGTCCCAGGTGGTGG	0.662													False	0	True	1:11718605	0	A	11718605	C	A	11718605	3	1	88	1	0	0	0	0	1	0	0	0	5793	610	22	3	418	3	FBXO44	1	11718605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156794	11718605	237532016	137	7849											
MTHFR	4524	broad.mit.edu	37	chr1	11860309	11860309	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagtcaccaaactcacttcgGatgtgcttcaccaggtccac	7	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11860309G>A	ENST00000376592.1	-	3	674	c.546C>T	c.(544-546)atC>atT	p.I182I	MTHFR_ENST00000376590.3_Silent_p.I182I|MTHFR_ENST00000376585.1_Silent_p.I223I|MTHFR_ENST00000376583.3_Silent_p.I223I			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	182					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	ACTCACTTCGGATGTGCTTCA	0.567													False	0	False	1:11860309	0	A	11860309	G	A	11860309	2	1	88	1	0	0	0	0	0	0	0	1	9998	1164	41	2		2	MTHFR	1	11860309	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141704	11860309	237390312	138	7850											
MTHFR	4524	broad.mit.edu	37	chr1	11863151	11863151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaggggttgaggctgctgTttcctctggcttcgttcacc	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11863151T>C	ENST00000376592.1	-	1	151	c.23A>G	c.(22-24)aAc>aGc	p.N8S	MTHFR_ENST00000376590.3_Missense_Mutation_p.N8S|MTHFR_ENST00000376585.1_Missense_Mutation_p.N49S|MTHFR_ENST00000376583.3_Missense_Mutation_p.N49S			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	8					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GAGGCTGCTGTTTCCTCTGGC	0.632													False	0	True	1:11863151	0	C	11863151	T	C	11863151	3	2	88	1	0	0	0	0	1	0	0	0	9998	1725	60	4	1991	4	MTHFR	1	11863151	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2842	11863151	237387470	139	7851											
CLCN6	1185	broad.mit.edu	37	chr1	11896113	11896113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagcatcctgcgcaccaCggtccaccatgccttcccgg	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11896113C>T	ENST00000346436.6	+	18	1935	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	CLCN6_ENST00000376496.3_Missense_Mutation_p.T628M|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.T606M	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	628	CBS 1.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGCACCACGGTCCACCAT	0.582													False	0	False	1:11896113	0	T	11896113	C	T	11896113	3	4	88	1	0	0	0	0	1	0	0	0	3490	536	19	1	1963	1	CLCN6	1	11896113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32962	11896113	237354508	140	7852											
CLCN6	1185	broad.mit.edu	37	chr1	11898394	11898394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggttggaattgcagagCgccagccagccgcgcctctc	13	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11898394C>T	ENST00000346436.6	+	21	2350	c.2298C>T	c.(2296-2298)agC>agT	p.S766S	CLCN6_ENST00000376496.3_Silent_p.S766S|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.S744S	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	766					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AATTGCAGAGCGCCAGCCAGC	0.642											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:11898394	0	T	11898394	C	T	11898394	2	4	88	1	0	0	0	0	0	0	0	1	3490	767	27	1		1	CLCN6	1	11898394	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2281	11898394	237352227	141	7853											
CLCN6	1185	broad.mit.edu	37	chr1	11898697	11898697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctgcgccacctgcccGtggtgaacgctgtgggagag	17	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11898697G>A	ENST00000346436.6	+	22	2561	c.2509G>A	c.(2509-2511)Gtg>Atg	p.V837M	CLCN6_ENST00000376496.3_Missense_Mutation_p.V837M|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.V815M	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	837	CBS 2.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCTGCCCGTGGTGAACGC	0.622											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:11898697	0	A	11898697	G	A	11898697	3	1	88	1	0	0	0	0	1	0	0	0	3490	1145	40	1	2605	1	CLCN6	1	11898697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303	11898697	237351924	142	7854											
KIAA2013	90231	broad.mit.edu	37	chr1	11980383	11980383	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttagttcactcagacactggGatcttcctgttcaattcaca	6	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11980383G>T	ENST00000376572.3	-	3	2079	c.1894C>A	c.(1894-1896)Ccc>Acc	p.P632T		NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	632						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACACTGGGATCTTCCTGT	0.502													False	0	True	1:11980383	0	T	11980383	G	T	11980383	3	4	88	1	0	0	0	0	1	0	0	0	8317	1174	41	3	14	3	KIAA2013	1	11980383	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81686	11980383	237270238	143	7855											
PLOD1	5351	broad.mit.edu	37	chr1	12004699	12004699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtgagcagcatccctcGtttctggatcccaggttcag	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12004699G>A	ENST00000376369.3	+	2	242	c.197G>A	c.(196-198)cGt>cAt	p.R66H	PLOD1_ENST00000485046.1_Intron|PLOD1_ENST00000196061.4_Intron			Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	25					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGCATCCCTCGTTTCTGGATC	0.617													False	0	True	1:12004699	0	A	12004699	G	A	12004699	3	1	88	1	0	0	0	0	1	0	0	0	12170	1160	40	1		1	PLOD1	1	12004699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24316	12004699	237245922	144	7856											
PLOD1	5351	broad.mit.edu	37	chr1	12032953	12032953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttgacctggcctttgtcGtccgctacaagcctgatgag	11	11	0	3	rs149425237	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12032953G>A	ENST00000196061.4	+	18	1954	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	PLOD1_ENST00000376369.3_Missense_Mutation_p.V690I	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	643	Fe2OG dioxygenase.				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGCCTTTGTCGTCCGCTACAA	0.577													False	0	False	1:12032953	0	A	12032953	G	A	12032953	3	1	88	1	0	0	0	0	1	0	0	0	12170	1145	40	1	1997	1	PLOD1	1	12032953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28254	12032953	237217668	145	7857											
MFN2	9927	broad.mit.edu	37	chr1	12052696	12052696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctatccaaagtgagagGcatcagtgaggtgctggctc	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12052696G>A	ENST00000235329.5	+	4	582	c.260G>A	c.(259-261)gGc>gAc	p.G87D	MFN2_ENST00000444836.1_Missense_Mutation_p.G87D|MFN2_ENST00000497302.1_3'UTR	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	87					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AAAGTGAGAGGCATCAGTGAG	0.532													False	0	False	1:12052696	0	A	12052696	G	A	12052696	3	1	88	1	0	0	0	0	1	0	0	0	9591	1203	42	2	266	2	MFN2	1	12052696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19743	12052696	237197925	146	7858											
TNFRSF8	0	broad.mit.edu	37	chr1	12186098	12186098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggagggcctgcaggaagcGaattcggcagagtaagtggc	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12186098G>A	ENST00000263932.2	+	11	1466	c.1244G>A	c.(1243-1245)cGa>cAa	p.R415Q	TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R304Q	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	415					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGGAAGCGAATTCGGCAG	0.627													False	0	False	1:12186098	0	A	12186098	G	A	12186098	3	1	88	1	0	0	0	0	1	0	0	0	16381	1058	37	1	1286	1	TNFRSF8	1	12186098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133402	12186098	237064523	147	7859											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12251090	12251090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggacagcacatacacccaGctctggaactgggttcccga	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12251090G>T	ENST00000376259.3	+	3	344	c.255G>T	c.(253-255)caG>caT	p.Q85H	TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.Q85H|TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	85					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	CATACACCCAGCTCTGGAACT	0.567													False	0	False	1:12251090	0	T	12251090	G	T	12251090	3	4	88	1	0	0	0	0	1	0	0	0	16376	962	34	3	265	3	TNFRSF1B	1	12251090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64992	12251090	236999531	148	7860											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12252968	12252968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcatggatgcagtctgCacgtccacgtcccccacccg	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12252968C>T	ENST00000376259.3	+	6	689	c.600C>T	c.(598-600)tgC>tgT	p.C200C	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	200					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	ATGCAGTCTGCACGTCCACGT	0.627													False	0	False	1:12252968	0	T	12252968	C	T	12252968	2	4	88	1	0	0	0	0	0	0	0	1	16376	718	25	2		2	TNFRSF1B	1	12252968	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1878	12252968	236997653	149	7861											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12266843	12266843	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtcaatgtcacctgcatCgtgaacgtctgtagcagctc	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12266843C>T	ENST00000376259.3	+	10	1241	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	384					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	TCACCTGCATCGTGAACGTCT	0.617													False	0	False	1:12266843	0	T	12266843	C	T	12266843	2	4	88	1	0	0	0	0	0	0	0	1	16376	874	31	1		1	TNFRSF1B	1	12266843	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13875	12266843	236983778	150	7862											
VPS13D	55187	broad.mit.edu	37	chr1	12309338	12309338	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaccaatccctcccatcCttttgcttttggcatctgca	5	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12309338C>A	ENST00000358136.3	+	6	636	c.506C>A	c.(505-507)cCt>cAt	p.P169H	VPS13D_ENST00000356315.4_Missense_Mutation_p.P169H	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	169					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCCTCCCATCCTTTTGCTTTT	0.413													False	0	True	1:12309338	0	A	12309338	C	A	12309338	3	1	88	1	0	0	0	0	1	0	0	0	17276	681	24	3	524	3	VPS13D	1	12309338	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42495	12309338	236941283	151	7863											
VPS13D	55187	broad.mit.edu	37	chr1	12368618	12368618	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagatctgatcttcccttcCtattttgtgcgacagacagg	10	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12368618C>A	ENST00000358136.3	+	27	6700	c.6570C>A	c.(6568-6570)tcC>tcA	p.S2190S	VPS13D_ENST00000356315.4_Silent_p.S2190S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2190					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTTCCCTTCCTATTTTGTGC	0.458													False	0	True	1:12368618	0	A	12368618	C	A	12368618	2	1	88	1	0	0	0	0	0	0	0	1	17276	668	24	3		3	VPS13D	1	12368618	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59280	12368618	236882003	152	7864											
VPS13D	55187	broad.mit.edu	37	chr1	12368655	12368655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggaggaagcctcttaaccGagccttgtaggctgaaattg	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12368655G>A	ENST00000358136.3	+	27	6737	c.6607G>A	c.(6607-6609)Gag>Aag	p.E2203K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2203K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2203					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTCTTAACCGAGCCTTGTAG	0.468													False	0	False	1:12368655	0	A	12368655	G	A	12368655	3	1	88	1	0	0	0	0	1	0	0	0	17276	1059	37	1	6709	1	VPS13D	1	12368655	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	12368655	236881966	153	7865											
VPS13D	55187	broad.mit.edu	37	chr1	12371629	12371629	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattagagaacaacctgggaGaacccatagaggaatttatg	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12371629G>A	ENST00000358136.3	+	28	6899	c.6769G>A	c.(6769-6771)Gaa>Aaa	p.E2257K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2257K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2257					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAACCTGGGAGAACCCATAGA	0.438													False	0	False	1:12371629	0	A	12371629	G	A	12371629	3	1	88	1	0	0	0	0	1	0	0	0	17276	943	33	2	6875	2	VPS13D	1	12371629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2974	12371629	236878992	154	7866											
VPS13D	55187	broad.mit.edu	37	chr1	12374263	12374263	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccattccatgatggcttttGacacccgttatgctgggcag	10	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12374263G>A	ENST00000358136.3	+	30	7157	c.7027G>A	c.(7027-7029)Gac>Aac	p.D2343N	VPS13D_ENST00000356315.4_Missense_Mutation_p.D2343N	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2343					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATGGCTTTTGACACCCGTTA	0.458													False	0	True	1:12374263	0	A	12374263	G	A	12374263	3	1	88	1	0	0	0	0	1	0	0	0	17276	1290	45	2	7141	2	VPS13D	1	12374263	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2634	12374263	236876358	155	7867											
VPS13D	55187	broad.mit.edu	37	chr1	12395787	12395787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtaagtaccaaggaatcGtggatggcagattactgtaa	11	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12395787G>A	ENST00000358136.3	+	39	8584	c.8454G>A	c.(8452-8454)tcG>tcA	p.S2818S	VPS13D_ENST00000356315.4_Silent_p.S2818S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2818					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCAAGGAATCGTGGATGGCAG	0.408													False	0	False	1:12395787	0	A	12395787	G	A	12395787	2	1	88	1	0	0	0	0	0	0	0	1	17276	1132	40	1		1	VPS13D	1	12395787	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21524	12395787	236854834	156	7868											
VPS13D	55187	broad.mit.edu	37	chr1	12416088	12416088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccatccggattgtgtgtcGagcagaaggatccttaaaga	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12416088G>A	ENST00000358136.3	+	48	9942	c.9812G>A	c.(9811-9813)cGa>cAa	p.R3271Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3246Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3270					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTGTGTGTCGAGCAGAAGGA	0.468													False	0	False	1:12416088	0	A	12416088	G	A	12416088	3	1	88	1	0	0	0	0	1	0	0	0	17276	1058	37	1	9998	1	VPS13D	1	12416088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20301	12416088	236834533	157	7869											
DHRS3	9249	broad.mit.edu	37	chr1	12638749	12638749	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcccctgctcactgacctgActctcatgccctggaacatc	7	17	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12638749A>C	ENST00000376223.2	-	4	1078	c.695T>G	c.(694-696)gTc>gGc	p.V232G		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	232					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CACTGACCTGACTCTCATGCC	0.582													False	0	True	1:12638749	0	C	12638749	A	C	12638749	3	2	88	1	0	0	0	0	1	0	0	0	4521	275	10	4	225	4	DHRS3	1	12638749	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	222661	12638749	236611872	158	7870											
AADACL4	343066	broad.mit.edu	37	chr1	12726629	12726629	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggggtccgcgtgacatgGtaccacctgtatgatggttt	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12726629G>A	ENST00000376221.1	+	4	1107	c.1107G>A	c.(1105-1107)tgG>tgA	p.W369*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	369						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GCGTGACATGGTACCACCTGT	0.478													False	0	False	1:12726629	0	A	12726629	G	A	12726629	4	1	88	1	0	0	0	0	0	1	0	0	13	1270	44	2	1121	2	AADACL4	1	12726629	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87880	12726629	236523992	159	7871											
AADACL4	343066	broad.mit.edu	37	chr1	12726682	12726682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcttttttgataagaaggCtctctctttcccatgttccc	5	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12726682C>T	ENST00000376221.1	+	4	1160	c.1160C>T	c.(1159-1161)gCt>gTt	p.A387V		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	387						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GATAAGAAGGCTCTCTCTTTC	0.478													False	0	True	1:12726682	0	T	12726682	C	T	12726682	3	4	88	1	0	0	0	0	1	0	0	0	13	797	28	2	1174	2	AADACL4	1	12726682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53	12726682	236523939	160	7872											
AADACL3	126767	broad.mit.edu	37	chr1	12780892	12780892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttattttctagaaacccaCcatggcatatgctctcgttt	5	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12780892C>A	ENST00000332530.3	+	2	238	c.12C>A	c.(10-12)caC>caA	p.H4Q	AADACL3_ENST00000359318.5_Missense_Mutation_p.H74Q	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	74							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TAGAAACCCACCATGGCATAT	0.507													False	0	False	1:12780892	0	A	12780892	C	A	12780892	3	1	88	1	0	0	0	0	1	0	0	0	12	506	18	3	236	3	AADACL3	1	12780892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54210	12780892	236469729	161	7873											
C1orf158	93190	broad.mit.edu	37	chr1	12819304	12819304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacatcgctacctgatcaGcacctatgacgaccattaca	5	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12819304G>A	ENST00000288048.5	+	3	503	c.287G>A	c.(286-288)aGc>aAc	p.S96N	C1orf158_ENST00000376210.3_Missense_Mutation_p.S58N	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	96										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTGATCAGCACCTATGAC	0.562													False	0	False	1:12819304	0	A	12819304	G	A	12819304	3	1	88	1	0	0	0	0	1	0	0	0	2022	971	34	2	297	2	C1orf158	1	12819304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38412	12819304	236431317	162	7874											
PRAMEF12	390999	broad.mit.edu	37	chr1	12835753	12835753	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggggcatatggtctggaGcttctgcactctccccagag	12	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12835753G>T	ENST00000357726.4	+	2	382	c.355G>T	c.(355-357)Gct>Tct	p.A119S		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	119										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGTCTGGAGCTTCTGCACT	0.537													False	0	False	1:12835753	0	T	12835753	G	T	12835753	3	4	88	1	0	0	0	0	1	0	0	0	12502	971	34	3	361	3	PRAMEF12	1	12835753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16449	12835753	236414868	163	7875											
PRAMEF12	390999	broad.mit.edu	37	chr1	12836043	12836043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgtgctgcccgtgggaGctgtccattcttataaggtt	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12836043G>A	ENST00000357726.4	+	2	672	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	215										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCGTGGGAGCTGTCCATTC	0.517													False	0	False	1:12836043	0	A	12836043	G	A	12836043	2	1	88	1	0	0	0	0	0	0	0	1	12502	962	34	2		2	PRAMEF12	1	12836043	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	290	12836043	236414578	164	7876											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837595	12837595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctcaacttggggctgaGctgatgaagacactgaggga	13	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12837595G>A	ENST00000357726.4	+	3	1332	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	435										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGGGCTGAGCTGATGAAGA	0.562													False	0	True	1:12837595	0	A	12837595	G	A	12837595	2	1	88	1	0	0	0	0	0	0	0	1	12502	962	34	2		2	PRAMEF12	1	12837595	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1552	12837595	236413026	165	7877											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837727	12837727	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgaatgcctgctgtcaGggtggatttatttaaagctt	11	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12837727G>T	ENST00000357726.4	+	3	1464	c.1437G>T	c.(1435-1437)caG>caT	p.Q479H		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	479										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCTGTCAGGGTGGATTTA	0.502													False	0	True	1:12837727	0	T	12837727	G	T	12837727	3	4	88	1	0	0	0	0	1	0	0	0	12502	991	35	3	1447	3	PRAMEF12	1	12837727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132	12837727	236412894	166	7878											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854104	12854104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatttgcgggatgttgacGagaatttctgggccagatgg	16	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12854104G>A	ENST00000332296.7	+	3	431	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	110								p.E110*(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGTTGACGAGAATTTCTG	0.532													False	0	False	1:12854104	0	A	12854104	G	A	12854104	3	1	88	1	0	0	0	0	1	0	0	0	12499	1059	37	1	334	1	PRAMEF1	1	12854104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16377	12854104	236396517	167	7879											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854270	12854270	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accccaggatgaatgcctgaGatacctcttccagtgggttt	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12854270G>T	ENST00000332296.7	+	3	597	c.494G>T	c.(493-495)aGa>aTa	p.R165I		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	165										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAATGCCTGAGATACCTCTTC	0.468													False	0	False	1:12854270	0	T	12854270	G	T	12854270	3	4	88	1	0	0	0	0	1	0	0	0	12499	942	33	3	500	3	PRAMEF1	1	12854270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166	12854270	236396351	168	7880											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884806	12884806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaataggcaggcattcaacaGcagtattgatctgcctccag	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12884806G>A	ENST00000535591.1	-	4	1500	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	435										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCATTCAACAGCAGTATTGAT	0.473													False	0	False	1:12884806	0	A	12884806	G	A	12884806	2	1	88	1	0	0	0	0	0	0	0	1	12501	963	34	2		2	PRAMEF11	1	12884806	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30536	12884806	236365815	169	7881											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884845	12884845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcataaaatgacctgtcGccatggtcagggcagttgtc	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12884845G>A	ENST00000535591.1	-	4	1461	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	422										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATGACCTGTCGCCATGGTCAG	0.473													False	0	False	1:12884845	0	A	12884845	G	A	12884845	2	1	88	1	0	0	0	0	0	0	0	1	12501	1074	38	1		1	PRAMEF11	1	12884845	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	12884845	236365776	170	7882											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907993	12907993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattgaacgaaggcaaagccCttatgaacagagcagcccgc	10	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12907993C>A	ENST00000317869.6	-	2	375	c.150G>T	c.(148-150)aaG>aaT	p.K50N		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AGGCAAAGCCCTTATGAACAG	0.458													False	0	True	1:12907993	0	A	12907993	C	A	12907993	3	1	88	1	0	0	0	0	1	0	0	0	7310	680	24	3	733	3	HNRNPCL1	1	12907993	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23148	12907993	236342628	171	7883											
PRAMEF10	343071	broad.mit.edu	37	chr1	12954533	12954533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgcacggccactggacGctcacgtacaactcacgctc	10	15	2	0	rs75427689	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12954533G>A	ENST00000235347.4	-	3	829	c.750C>T	c.(748-750)agC>agT	p.S250S		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	250										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCACTGGACGCTCACGTACA	0.463													False	0	False	1:12954533	0	A	12954533	G	A	12954533	2	1	88	1	0	0	0	0	0	0	0	1	12500	1078	38	1		1	PRAMEF10	1	12954533	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46540	12954533	236296088	172	7884											
PDPN	10630	broad.mit.edu	37	chr1	13940894	13940894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtggttatgcgaaaaatgtCgggaaggtactcgtaagtaa	13	4	0	0	rs142964620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:13940894C>T	ENST00000294489.6	+	5	1039	c.698C>T	c.(697-699)tCg>tTg	p.S233L	PDPN_ENST00000513143.1_Missense_Mutation_p.S115L|PDPN_ENST00000376057.4_Missense_Mutation_p.S233L|PDPN_ENST00000509009.1_Missense_Mutation_p.S152L|PDPN_ENST00000475043.1_Missense_Mutation_p.S115L|PDPN_ENST00000487038.1_Missense_Mutation_p.S115L|PDPN_ENST00000376061.4_Missense_Mutation_p.S115L			Q86YL7	PDPN_HUMAN	podoplanin	157					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CGAAAAATGTCGGGAAGGTAC	0.418													False	0	True	1:13940894	0	T	13940894	C	T	13940894	3	4	88	1	0	0	0	0	1	0	0	0	11756	893	31	1	716	1	PDPN	1	13940894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	986361	13940894	235309727	173	7885											
PRDM2	7799	broad.mit.edu	37	chr1	14075893	14075893	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagctcctggtctggtacaAtggggaagacaaccctgaga	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14075893A>C	ENST00000235372.7	+	6	1278	c.422A>C	c.(421-423)aAt>aCt	p.N141T	PRDM2_ENST00000376048.5_Missense_Mutation_p.N141T|PRDM2_ENST00000311066.5_Missense_Mutation_p.N141T|PRDM2_ENST00000502727.1_3'UTR	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	141	SET.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTCTGGTACAATGGGGAAGAC	0.667													False	0	False	1:14075893	0	C	14075893	A	C	14075893	3	2	88	1	0	0	0	0	1	0	0	0	12534	101	4	4	440	4	PRDM2	1	14075893	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	134999	14075893	235174728	174	7886											
PRDM2	7799	broad.mit.edu	37	chr1	14105221	14105221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgaaagagccagaaataCggtgtgatgagaagccagaa	13	6	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14105221C>T	ENST00000235372.7	+	8	1787	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R110W|PRDM2_ENST00000311066.5_Missense_Mutation_p.R311W|PRDM2_ENST00000343137.4_Missense_Mutation_p.R110W|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	311	Retinoblastoma protein binding.			EPEIRCDEKPED -> SQKYGVMRSQKI (in Ref. 4; AAA87023).		Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCCAGAAATACGGTGTGATGA	0.423													False	0	False	1:14105221	0	T	14105221	C	T	14105221	3	4	88	1	0	0	0	0	1	0	0	0	12534	527	19	1	957	1	PRDM2	1	14105221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29328	14105221	235145400	175	7887											
PRDM2	7799	broad.mit.edu	37	chr1	14105607	14105607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagcatctggagaaaaCgttgcttcaaaagatgattc	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14105607C>T	ENST00000235372.7	+	8	2173	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Silent_p.N238N|PRDM2_ENST00000311066.5_Silent_p.N439N|PRDM2_ENST00000343137.4_Silent_p.N238N|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	439						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTGGAGAAAACGTTGCTTCAA	0.502													False	0	True	1:14105607	0	T	14105607	C	T	14105607	2	4	88	1	0	0	0	0	0	0	0	1	12534	535	19	1		1	PRDM2	1	14105607	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	386	14105607	235145014	176	7888											
PRDM2	7799	broad.mit.edu	37	chr1	14107778	14107778	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagaatggcccttcaAatgtgaattttgtgtgcagc	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14107778A>G	ENST00000235372.7	+	8	4344	c.3488A>G	c.(3487-3489)aAa>aGa	p.K1163R	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.K962R|PRDM2_ENST00000311066.5_Missense_Mutation_p.K1163R|PRDM2_ENST00000343137.4_Missense_Mutation_p.K962R|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1163						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGGCCCTTCAAATGTGAATTT	0.353													False	0	True	1:14107778	0	G	14107778	A	G	14107778	3	3	88	1	0	0	0	0	1	0	0	0	12534	14	1	4	3514	4	PRDM2	1	14107778	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2171	14107778	235142843	177	7889											
PRDM2	7799	broad.mit.edu	37	chr1	14109100	14109100	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatcattctgctcagcttTccagcaaaacatcacggagc	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14109100T>G	ENST00000235372.7	+	8	5666	c.4810T>G	c.(4810-4812)Tcc>Gcc	p.S1604A	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1403A|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1604A|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1403A|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1604						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGCTCAGCTTTCCAGCAAAAC	0.453													False	0	True	1:14109100	0	G	14109100	T	G	14109100	3	3	88	1	0	0	0	0	1	0	0	0	12534	1783	62	4	4836	4	PRDM2	1	14109100	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1322	14109100	235141521	178	7890											
TMEM51	55092	broad.mit.edu	37	chr1	15541680	15541680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatcatggccatgtggaacCtggtacccggcttcagcgcg	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15541680C>A	ENST00000428417.1	+	2	543	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	TMEM51_ENST00000376014.3_Missense_Mutation_p.L33M|TMEM51_ENST00000434578.2_Missense_Mutation_p.L33M|TMEM51_ENST00000376008.2_Missense_Mutation_p.L33M|TMEM51_ENST00000400796.3_Missense_Mutation_p.L33M	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	33						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CATGTGGAACCTGGTACCCGG	0.622													False	0	False	1:15541680	0	A	15541680	C	A	15541680	3	1	88	1	0	0	0	0	1	0	0	0	16259	680	24	3	99	3	TMEM51	1	15541680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1432580	15541680	233708941	179	7891											
EFHD2	79180	broad.mit.edu	37	chr1	15753776	15753776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaagagcttctttgaggCcaaggtgaggagcccaaggg	16	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15753776C>T	ENST00000375980.4	+	3	664	c.587C>T	c.(586-588)gCc>gTc	p.A196V		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	196						membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTTGAGGCCAAGGTGAGG	0.642													False	0	False	1:15753776	0	T	15753776	C	T	15753776	3	4	88	1	0	0	0	0	1	0	0	0	4979	739	26	2	597	2	EFHD2	1	15753776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212096	15753776	233496845	180	7892											
EFHD2	79180	broad.mit.edu	37	chr1	15755181	15755181	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggaggagatgaagcagcgGaaagcggccttcaaggagct	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15755181G>A	ENST00000375980.4	+	4	761	c.684G>A	c.(682-684)cgG>cgA	p.R228R		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	228						membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGCAGCGGAAAGCGGCCT	0.652													False	0	True	1:15755181	0	A	15755181	G	A	15755181	2	1	88	1	0	0	0	0	0	0	0	1	4979	1161	41	2		2	EFHD2	1	15755181	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1405	15755181	233495440	181	7893											
CASP9	842	broad.mit.edu	37	chr1	15832565	15832565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccagctccagcaaagccaGcaccattttctacaagagag	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15832565G>T	ENST00000546424.1	-	5	884	c.640C>A	c.(640-642)Ctg>Atg	p.L214M	CASP9_ENST00000333868.5_Missense_Mutation_p.L214M|CASP9_ENST00000375890.4_Missense_Mutation_p.L131M|CASP9_ENST00000348549.5_Intron			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	214					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		AGCAAAGCCAGCACCATTTTC	0.577													False	0	False	1:15832565	0	T	15832565	G	T	15832565	3	4	88	1	0	0	0	0	1	0	0	0	2699	962	34	3	630	3	CASP9	1	15832565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77384	15832565	233418056	182	7894											
DNAJC16	23341	broad.mit.edu	37	chr1	15893740	15893740	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcctactacagaaatttgCtttggaggtctacacattta	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15893740C>A	ENST00000375847.3	+	14	2089	c.1925C>A	c.(1924-1926)gCt>gAt	p.A642D	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.A642D	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	642					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CAGAAATTTGCTTTGGAGGTC	0.463													False	0	True	1:15893740	0	A	15893740	C	A	15893740	3	1	88	1	0	0	0	0	1	0	0	0	4665	797	28	3	1975	3	DNAJC16	1	15893740	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61175	15893740	233356881	183	7895											
RSC1A1	6248	broad.mit.edu	37	chr1	15986601	15986601	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttacaagatctttctgatCatgcttcctcagcagaccat	5	12	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15986601C>T	ENST00000345034.1	+	1	238	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	80					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTTCTGATCATGCTTCCTC	0.423													False	0	False	1:15986601	0	T	15986601	C	T	15986601	3	4	88	1	0	0	0	0	1	0	0	0	13777	826	29	2	240	2	RSC1A1	1	15986601	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92861	15986601	233264020	184	7896											
SLC25A34	284723	broad.mit.edu	37	chr1	16064705	16064705	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcccagctggccaccTtcgcctctgccaaggcctgg	11	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16064705T>G	ENST00000294454.5	+	3	643	c.562T>G	c.(562-564)Ttc>Gtc	p.F188V	SLC25A34_ENST00000489568.1_3'UTR	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	188					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGCCACCTTCGCCTCTGC	0.667													False	0	False	1:16064705	0	G	16064705	T	G	16064705	3	3	88	1	0	0	0	0	1	0	0	0	14578	1609	56	4	572	4	SLC25A34	1	16064705	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78104	16064705	233185916	185	7897											
FBLIM1	54751	broad.mit.edu	37	chr1	16101142	16101142	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggtgcggcaagtgtggCgaggtggtccgggaccacat	19	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16101142C>T	ENST00000375766.3	+	7	1381	c.741C>T	c.(739-741)ggC>ggT	p.G247G	FBLIM1_ENST00000375771.1_Silent_p.G247G|FBLIM1_ENST00000332305.5_Silent_p.G150G|FBLIM1_ENST00000400773.1_Silent_p.G150G|FBLIM1_ENST00000441801.2_Silent_p.G247G	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	247	LIM zinc-binding 2.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCAAGTGTGGCGAGGTGGTCC	0.637													False	0	False	1:16101142	0	T	16101142	C	T	16101142	2	4	88	1	0	0	0	0	0	0	0	1	5737	755	27	1		1	FBLIM1	1	16101142	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36437	16101142	233149479	186	7898											
SPEN	23013	broad.mit.edu	37	chr1	16254623	16254623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctacgactataaccaagatCgtacatattatgagagtgtt	7	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16254623C>T	ENST00000375759.3	+	11	2092	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	630	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAACCAAGATCGTACATATTA	0.408													False	0	False	1:16254623	0	T	16254623	C	T	16254623	3	4	88	1	0	0	0	0	1	0	0	0	15120	884	31	1	1930	1	SPEN	1	16254623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153481	16254623	232995998	187	7899											
SPEN	23013	broad.mit.edu	37	chr1	16255163	16255163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagagagagacgcttaataCggaaggaaaaagtggaaaag	14	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16255163C>T	ENST00000375759.3	+	11	2632	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	810	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACGCTTAATACGGAAGGAAAA	0.423													False	0	True	1:16255163	0	T	16255163	C	T	16255163	3	4	88	1	0	0	0	0	1	0	0	0	15120	527	19	1	2470	1	SPEN	1	16255163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	540	16255163	232995458	188	7900											
SPEN	23013	broad.mit.edu	37	chr1	16258456	16258456	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgccggaatgtaaggagcgtCtatgcaaccatgggtgacca	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16258456C>A	ENST00000375759.3	+	11	5925	c.5721C>A	c.(5719-5721)gtC>gtA	p.V1907V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1907					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAAGGAGCGTCTATGCAACCA	0.512													False	0	False	1:16258456	0	A	16258456	C	A	16258456	2	1	88	1	0	0	0	0	0	0	0	1	15120	900	32	3		3	SPEN	1	16258456	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3293	16258456	232992165	189	7901											
SPEN	23013	broad.mit.edu	37	chr1	16264404	16264404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaacgtcctggcccatcGgtccctgcccctttctgaag	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16264404G>A	ENST00000375759.3	+	13	10811	c.10607G>A	c.(10606-10608)cGg>cAg	p.R3536Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3536	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGGCCCATCGGTCCCTGCCC	0.622													False	0	False	1:16264404	0	A	16264404	G	A	16264404	3	1	88	1	0	0	0	0	1	0	0	0	15120	1116	39	1	10657	1	SPEN	1	16264404	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5948	16264404	232986217	190	7902											
CLCNKA	0	broad.mit.edu	37	chr1	16351370	16351370	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcaggcttctcccagagcatCacgccctcctctggaggtga	10	15	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16351370C>A	ENST00000375692.1	+	5	470	c.342C>A	c.(340-342)atC>atA	p.I114I	CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Silent_p.I114I|CLCNKA_ENST00000420078.1_Silent_p.I114I			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	114					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCCAGAGCATCACGCCCTCCT	0.602													False	0	False	1:16351370	0	A	16351370	C	A	16351370	2	1	88	1	0	0	0	0	0	0	0	1	3492	816	29	3		3	CLCNKA	1	16351370	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86966	16351370	232899251	191	7903											
CLCNKA	0	broad.mit.edu	37	chr1	16353838	16353838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcgaggtcatgtcttcccActtctctgtccgggattact	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16353838A>C	ENST00000375692.1	+	9	817	c.689A>C	c.(688-690)cAc>cCc	p.H230P	CLCNKA_ENST00000439316.2_Missense_Mutation_p.H187P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.H230P|CLCNKA_ENST00000420078.1_Missense_Mutation_p.H230P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	230					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATGTCTTCCCACTTCTCTGTC	0.647													False	0	True	1:16353838	0	C	16353838	A	C	16353838	3	2	88	1	0	0	0	0	1	0	0	0	3492	159	6	4	715	4	CLCNKA	1	16353838	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2468	16353838	232896783	192	7904											
EPHA2	1969	broad.mit.edu	37	chr1	16456084	16456084	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggagccggatagacacGctgcaacaggaagcactgca	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16456084G>A	ENST00000358432.5	-	16	2824	c.2670C>T	c.(2668-2670)cgC>cgT	p.R890R		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	890	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGATAGACACGCtgcaacagg	0.652													False	0	False	1:16456084	0	A	16456084	G	A	16456084	5	1	88	1	0	0	0	0	0	0	1	0	5199	1101	38	1	268	1	EPHA2	1	16456084	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102246	16456084	232794537	193	7905											
EPHA2	1969	broad.mit.edu	37	chr1	16460967	16460967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggctctgacgaacctgcGgtggataaagaagccaactc	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16460967G>A	ENST00000358432.5	-	8	1832	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	560					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACGAACCTGCGGTGGATAAAG	0.607													False	0	False	1:16460967	0	A	16460967	G	A	16460967	3	1	88	1	0	0	0	0	1	0	0	0	5199	1116	39	1	1292	1	EPHA2	1	16460967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4883	16460967	232789654	194	7906											
EPHA2	1969	broad.mit.edu	37	chr1	16461042	16461042	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgccgccaatcaccgccaAgttgccagatccctccgggg	10	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16461042A>G	ENST00000358432.5	-	8	1757	c.1603T>C	c.(1603-1605)Ttg>Ctg	p.L535L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	535					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ATCACCGCCAAGTTGCCAGAT	0.592													False	0	False	1:16461042	0	G	16461042	A	G	16461042	2	3	88	1	0	0	0	0	0	0	0	1	5199	69	3	4		4	EPHA2	1	16461042	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75	16461042	232789579	195	7907											
EPHA2	1969	broad.mit.edu	37	chr1	16464503	16464503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagtccgtgaggaggctccGagtagcgcacactggcctca	13	13	2	1	rs141027815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16464503G>A	ENST00000358432.5	-	5	1311	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	386	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGGAGGCTCCGAGTAGCGCAC	0.647													False	0	False	1:16464503	0	A	16464503	G	A	16464503	3	1	88	1	0	0	0	0	1	0	0	0	5199	1059	37	1	1825	1	EPHA2	1	16464503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3461	16464503	232786118	196	7908											
EPHA2	1969	broad.mit.edu	37	chr1	16464553	16464553	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattccccagactcgggccaGcactgttcgcaggtgacgct	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16464553G>T	ENST00000358432.5	-	5	1261	c.1107C>A	c.(1105-1107)tgC>tgA	p.C369*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	369	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACTCGGGCCAGCACTGTTCGC	0.677													False	0	False	1:16464553	0	T	16464553	G	T	16464553	4	4	88	1	0	0	0	0	0	1	0	0	5199	963	34	3	1875	3	EPHA2	1	16464553	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	16464553	232786068	197	7909											
EPHA2	1969	broad.mit.edu	37	chr1	16475444	16475444	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctctcctcggtacacccaGttggtgcggagccagttgtc	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16475444G>T	ENST00000358432.5	-	3	406	c.252C>A	c.(250-252)aaC>aaA	p.N84K	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	84					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGTACACCCAGTTGGTGCGGA	0.542													False	0	False	1:16475444	0	T	16475444	G	T	16475444	3	4	88	1	0	0	0	0	1	0	0	0	5199	1020	36	3	2738	3	EPHA2	1	16475444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10891	16475444	232775177	198	7910											
ARHGEF19	128272	broad.mit.edu	37	chr1	16531318	16531318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagactgccttgctggacaGcttcagcttggcagggggtg	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16531318G>T	ENST00000270747.3	-	12	1979	c.1843C>A	c.(1843-1845)Ctg>Atg	p.L615M	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	615	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCTGGACAGCTTCAGCTTG	0.597													False	0	True	1:16531318	0	T	16531318	G	T	16531318	3	4	88	1	0	0	0	0	1	0	0	0	904	962	34	3	585	3	ARHGEF19	1	16531318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55874	16531318	232719303	199	7911											
ARHGEF19	128272	broad.mit.edu	37	chr1	16532534	16532534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgtcgcacacgctgaagCgcagcacatctgcctccagc	9	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16532534C>T	ENST00000270747.3	-	8	1479	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	448	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CACGCTGAAGCGCAGCACATC	0.642													False	0	False	1:16532534	0	T	16532534	C	T	16532534	3	4	88	1	0	0	0	0	1	0	0	0	904	768	27	1	1101	1	ARHGEF19	1	16532534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1216	16532534	232718087	200	7912											
ARHGEF19	128272	broad.mit.edu	37	chr1	16534248	16534248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccgctcatctctacacttCgagcctccattccagatgct	5	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16534248C>T	ENST00000270747.3	-	4	855	c.719G>A	c.(718-720)cGa>cAa	p.R240Q		NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	240					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTACACTTCGAGCCTCCAT	0.672													False	0	False	1:16534248	0	T	16534248	C	T	16534248	3	4	88	1	0	0	0	0	1	0	0	0	904	884	31	1	1741	1	ARHGEF19	1	16534248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1714	16534248	232716373	201	7913											
FBXO42	54455	broad.mit.edu	37	chr1	16579592	16579592	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagaagcaatactcacaGcattgggaccgccacaccct	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16579592G>A	ENST00000375592.3	-	8	1136	c.920C>T	c.(919-921)gCt>gTt	p.A307V		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	307										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AATACTCACAGCATTGGGACC	0.433													False	0	False	1:16579592	0	A	16579592	G	A	16579592	5	1	88	1	0	0	0	0	0	0	1	0	5791	985	34	2	1245	2	FBXO42	1	16579592	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45344	16579592	232671029	202	7914											
FBXO42	54455	broad.mit.edu	37	chr1	16641844	16641844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcttgatccattgtccCttccagcacagtttcttcct	4	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16641844C>T	ENST00000375592.3	-	2	286	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	24										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TCCATTGTCCCTTCCAGCACA	0.498													False	0	True	1:16641844	0	T	16641844	C	T	16641844	3	4	88	1	0	0	0	0	1	0	0	0	5791	681	24	2	2119	2	FBXO42	1	16641844	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62252	16641844	232608777	203	7915											
SPATA21	374955	broad.mit.edu	37	chr1	16731528	16731528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagaagcccattaggaGcaggatattcttcaggctct	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16731528G>A	ENST00000335496.1	-	8	1227	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	SPATA21_ENST00000540400.1_Missense_Mutation_p.L226F|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	249							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CCCATTAGGAGCAGGATATTC	0.572													False	0	False	1:16731528	0	A	16731528	G	A	16731528	3	1	88	1	0	0	0	0	1	0	0	0	15089	971	34	2	688	2	SPATA21	1	16731528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89684	16731528	232519093	204	7916											
SPATA21	374955	broad.mit.edu	37	chr1	16731589	16731589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgaagatctcaaagtaGctgcggaaggctgtggggag	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16731589G>A	ENST00000335496.1	-	8	1166	c.684C>T	c.(682-684)agC>agT	p.S228S	SPATA21_ENST00000540400.1_Silent_p.S205S|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	228							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCTCAAAGTAGCTGCGGAAGG	0.557													False	0	False	1:16731589	0	A	16731589	G	A	16731589	2	1	88	1	0	0	0	0	0	0	0	1	15089	962	34	2		2	SPATA21	1	16731589	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61	16731589	232519032	205	7917											
NECAP2	55707	broad.mit.edu	37	chr1	16770133	16770133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtccccttagggctgcGgagtggcagctggaccagcc	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16770133G>A	ENST00000337132.5	+	2	189	c.99G>A	c.(97-99)gcG>gcA	p.A33A	NECAP2_ENST00000457722.2_Silent_p.A7A|NECAP2_ENST00000443980.2_Silent_p.A33A|NECAP2_ENST00000504551.2_Intron|NECAP2_ENST00000406746.1_Silent_p.A33A	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	33					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGGGCTGCGGAGTGGCAGC	0.572													False	0	False	1:16770133	0	A	16770133	G	A	16770133	2	1	88	1	0	0	0	0	0	0	0	1	10376	1103	39	1		1	NECAP2	1	16770133	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38544	16770133	232480488	206	7918											
NECAP2	55707	broad.mit.edu	37	chr1	16775694	16775694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccatcaagctcaacatcGcagtgagttctacccttgct	7	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16775694G>A	ENST00000337132.5	+	5	577	c.487G>A	c.(487-489)Gca>Aca	p.A163T	NECAP2_ENST00000457722.2_Missense_Mutation_p.A137T|NECAP2_ENST00000443980.2_Missense_Mutation_p.A163T|NECAP2_ENST00000504551.2_Missense_Mutation_p.A102T|NECAP2_ENST00000406746.1_Missense_Mutation_p.A163T	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	163					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCAACATCGCAGTGAGTTC	0.532													False	0	False	1:16775694	0	A	16775694	G	A	16775694	3	1	88	1	0	0	0	0	1	0	0	0	10376	1087	38	1	505	1	NECAP2	1	16775694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5561	16775694	232474927	207	7919											
NBPF1	55672	broad.mit.edu	37	chr1	16892237	16892237	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactggaaggagttgaataAcatctatccagtgagtcctg	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16892237A>G	ENST00000430580.2	-	27	3842	c.2955T>C	c.(2953-2955)tgT>tgC	p.C985C		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	985	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGTTGAATAACATCTATCCA	0.473													False	0	False	1:16892237	0	G	16892237	A	G	16892237	2	3	88	1	0	0	0	0	0	0	0	1	10259	41	2	4		4	NBPF1	1	16892237	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116543	16892237	232358384	208	7920											
NBPF1	55672	broad.mit.edu	37	chr1	16902779	16902779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctgggctgagcttttggAcaaggtgctgtgccagtcta	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16902779A>G	ENST00000430580.2	-	19	2989	c.2102T>C	c.(2101-2103)gTc>gCc	p.V701A	NBPF1_ENST00000287968.8_Missense_Mutation_p.V66A|NBPF1_ENST00000432949.1_Missense_Mutation_p.V159A	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	701				QLF -> HLV (in Ref. 2; BAB21784 and 3; AAH34418).		cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGCTTTTGGACAAGGTGCTG	0.567													False	0	False	1:16902779	0	G	16902779	A	G	16902779	3	3	88	1	0	0	0	0	1	0	0	0	10259	275	10	4	1366	4	NBPF1	1	16902779	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10542	16902779	232347842	209	7921											
CROCC	9696	broad.mit.edu	37	chr1	17256517	17256517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcttgtgcagcggctGcagggcaaggtcaggaccac	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17256517G>A	ENST00000375541.5	+	4	597	c.528G>A	c.(526-528)ctG>ctA	p.L176L	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	176					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCAGCGGCTGCAGGGCAAGG	0.682													False	0	False	1:17256517	0	A	17256517	G	A	17256517	2	1	88	1	0	0	0	0	0	0	0	1	3916	1306	46	2		2	CROCC	1	17256517	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353738	17256517	231994104	210	7922											
CROCC	9696	broad.mit.edu	37	chr1	17281832	17281832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcttcggacccagctgcGtctgctggaggatgcccgtg	15	12	1	1	rs145972878	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17281832G>A	ENST00000375541.5	+	24	3560	c.3491G>A	c.(3490-3492)cGt>cAt	p.R1164H		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1164					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACCCAGCTGCGTCTGCTGGAG	0.697													False	0	False	1:17281832	0	A	17281832	G	A	17281832	3	1	88	1	0	0	0	0	1	0	0	0	3916	1145	40	1	3585	1	CROCC	1	17281832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25315	17281832	231968789	211	7923											
CROCC	9696	broad.mit.edu	37	chr1	17281989	17281989	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggagcgcgaggccctgcgGcgttccaatgaggagcttcg	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17281989G>T	ENST00000375541.5	+	24	3717	c.3648G>T	c.(3646-3648)cgG>cgT	p.R1216R		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1216					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGCCCTGCGGCGTTCCAATG	0.677													False	0	False	1:17281989	0	T	17281989	G	T	17281989	2	4	88	1	0	0	0	0	0	0	0	1	3916	1190	42	3		3	CROCC	1	17281989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157	17281989	231968632	212	7924											
CROCC	9696	broad.mit.edu	37	chr1	17296826	17296826	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacgagcggcggctgctgCaggagcgcctgggaagcctg	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17296826C>T	ENST00000375541.5	+	34	5599	c.5530C>T	c.(5530-5532)Cag>Tag	p.Q1844*		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1844					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCGGCTGCTGCAGGAGCGCCT	0.687													False	0	False	1:17296826	0	T	17296826	C	T	17296826	4	4	88	1	0	0	0	0	0	1	0	0	3916	711	25	2	5664	2	CROCC	1	17296826	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14837	17296826	231953795	213	7925											
MFAP2	4237	broad.mit.edu	37	chr1	17301766	17301766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaggtggccttcctacctCggaggagctcctcatgggca	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17301766C>T	ENST00000375535.3	-	8	735	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	MFAP2_ENST00000375534.3_Missense_Mutation_p.R148Q|MFAP2_ENST00000438542.1_Missense_Mutation_p.R148Q|MFAP2_ENST00000490075.1_5'UTR			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	149						microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTTCCTACCTCGGAGGAGCTC	0.567													False	0	False	1:17301766	0	T	17301766	C	T	17301766	3	4	88	1	0	0	0	0	1	0	0	0	9581	884	31	1	113	1	MFAP2	1	17301766	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4940	17301766	231948855	214	7926											
PADI2	11240	broad.mit.edu	37	chr1	17410236	17410236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacctggatccagcgatcGcctcggtttaggtactggaa	11	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17410236G>A	ENST00000375486.4	-	9	1098	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	PADI2_ENST00000375481.1_Silent_p.G345G|PADI2_ENST00000444885.2_Silent_p.G229G	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	345					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCCAGCGATCGCCTCGGTTTA	0.532													False	0	False	1:17410236	0	A	17410236	G	A	17410236	2	1	88	1	0	0	0	0	0	0	0	1	11446	1074	38	1		1	PADI2	1	17410236	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108470	17410236	231840385	215	7927											
PADI1	29943	broad.mit.edu	37	chr1	17570600	17570600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggagaaggtgcagtcCctgctggagcctctgggcct	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17570600C>T	ENST00000375471.4	+	16	1946	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	PADI1_ENST00000536552.1_Silent_p.S89S|PADI1_ENST00000413717.2_Silent_p.S133S|PADI1_ENST00000537499.1_Silent_p.S175S|PADI1_ENST00000460293.1_3'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	618					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGGTGCAGTCCCTGCTGGAGC	0.592													False	0	True	1:17570600	0	T	17570600	C	T	17570600	2	4	88	1	0	0	0	0	0	0	0	1	11445	610	22	2		2	PADI1	1	17570600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160364	17570600	231680021	216	7928											
PADI3	51702	broad.mit.edu	37	chr1	17597649	17597649	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accatctgcccacaggccgaGaaccgcaacgaccgctggat	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17597649G>T	ENST00000375460.3	+	9	1063	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	341					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CACAGGCCGAGAACCGCAACG	0.627													False	0	False	1:17597649	0	T	17597649	G	T	17597649	3	4	88	1	0	0	0	0	1	0	0	0	11447	933	33	3	1057	3	PADI3	1	17597649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27049	17597649	231652972	217	7929											
PADI4	23569	broad.mit.edu	37	chr1	17664602	17664602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtgacagagacaatctcGaatcttctgccatggactgc	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17664602G>A	ENST00000375448.4	+	5	504	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	160					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGACAATCTCGAATCTTCTGC	0.527													False	0	False	1:17664602	0	A	17664602	G	A	17664602	3	1	88	1	0	0	0	0	1	0	0	0	11448	1059	37	1	496	1	PADI4	1	17664602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66953	17664602	231586019	218	7930											
PADI4	23569	broad.mit.edu	37	chr1	17674450	17674450	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacaggatgaaatggagatCggctacatccaagccccaca	9	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17674450C>T	ENST00000375448.4	+	10	1088	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	354					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AAATGGAGATCGGCTACATCC	0.582													False	0	False	1:17674450	0	T	17674450	C	T	17674450	2	4	88	1	0	0	0	0	0	0	0	1	11448	874	31	1		1	PADI4	1	17674450	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9848	17674450	231576171	219	7931											
PADI6	353238	broad.mit.edu	37	chr1	17722154	17722154	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagagcagatcagctcctgtCtaatggtaagggaactccct	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17722154C>T	ENST00000434762.2	+	0	1664							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGCTCCTGTCTAATGGTAAG	0.502													False	0	False	1:17722154	0	T	17722154	C	T	17722154	1	4	88	0	1	0	0	0	0	0	0	0	11449	913	32	2		2	PADI6	1	17722154	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47704	17722154	231528467	220	7932											
RCC2	55920	broad.mit.edu	37	chr1	17748709	17748709	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggggtcacctgcgcggggCtgggaacagcgtctgtctgg	19	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17748709C>A	ENST00000375436.4	-	6	921	c.734G>T	c.(733-735)aGc>aTc	p.S245I	RCC2_ENST00000375433.3_Missense_Mutation_p.S245I	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	245					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CTGCGCGGGGCTGGGAACAGC	0.512													False	0	True	1:17748709	0	A	17748709	C	A	17748709	3	1	88	1	0	0	0	0	1	0	0	0	13253	797	28	3	866	3	RCC2	1	17748709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26555	17748709	231501912	221	7933											
RCC2	55920	broad.mit.edu	37	chr1	17749218	17749218	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tacccgtcaaggccaaggtgTggttccgcccacatgctgca	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17749218T>G	ENST00000375436.4	-	5	825	c.638A>C	c.(637-639)cAc>cCc	p.H213P	RCC2_ENST00000375433.3_Missense_Mutation_p.H213P	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	213					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GGCCAAGGTGTGGTTCCGCCC	0.602													False	0	False	1:17749218	0	G	17749218	T	G	17749218	3	3	88	1	0	0	0	0	1	0	0	0	13253	1696	59	4	966	4	RCC2	1	17749218	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	509	17749218	231501403	222	7934											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17945899	17945899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggacatcaagcccccagccCcagagctgggccccatgcca	10	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17945899C>A	ENST00000361221.3	+	10	1060	c.901C>A	c.(901-903)Cca>Aca	p.P301T	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P79T|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.P59T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P262T|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.P301T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	301					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCCCCAGCCCCAGAGCTGGG	0.662													False	0	True	1:17945899	0	A	17945899	C	A	17945899	3	1	88	1	0	0	0	0	1	0	0	0	897	623	22	3	935	3	ARHGEF10L	1	17945899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196681	17945899	231304722	223	7935											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18023551	18023551	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acccgcaagaagggcatcctCttgcagtaccgcctgcgctc	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18023551C>T	ENST00000361221.3	+	29	3675	c.3516C>T	c.(3514-3516)ctC>ctT	p.L1172L	ARHGEF10L_ENST00000375415.1_Silent_p.L1133L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Silent_p.L945L|ARHGEF10L_ENST00000167825.4_Silent_p.L875L|ARHGEF10L_ENST00000452522.1_Silent_p.L1133L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1172					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGGGCATCCTCTTGCAGTACC	0.701													False	0	False	1:18023551	0	T	18023551	C	T	18023551	2	4	88	1	0	0	0	0	0	0	0	1	897	900	32	2		2	ARHGEF10L	1	18023551	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77652	18023551	231227070	224	7936											
ACTL8	81569	broad.mit.edu	37	chr1	18149669	18149669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgtgtgagcctgggcatcGacatttgccatcctgacacc	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18149669G>A	ENST00000375406.1	+	2	382	c.166G>A	c.(166-168)Gac>Aac	p.D56N		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	56						cytoplasm|cytoskeleton		p.D56Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGGCATCGACATTTGCCA	0.572													False	0	False	1:18149669	0	A	18149669	G	A	18149669	3	1	88	1	0	0	0	0	1	0	0	0	202	1058	37	1	168	1	ACTL8	1	18149669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126118	18149669	231100952	225	7937											
IGSF21	84966	broad.mit.edu	37	chr1	18691979	18691979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagagaacataccagagaCggtcgtgagccgtgagtttc	12	10	0	4	rs144826489		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18691979C>T	ENST00000251296.1	+	6	1186	c.803C>T	c.(802-804)aCg>aTg	p.T268M		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	268						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATACCAGAGACGGTCGTGAGC	0.657													False	0	False	1:18691979	0	T	18691979	C	T	18691979	3	4	88	1	0	0	0	0	1	0	0	0	7649	536	19	1	825	1	IGSF21	1	18691979	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	542310	18691979	230558642	226	7938											
IGSF21	84966	broad.mit.edu	37	chr1	18692065	18692065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcaccccgagcagtgacGgcactgtggaagtacgtgcc	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18692065G>A	ENST00000251296.1	+	6	1272	c.889G>A	c.(889-891)Ggc>Agc	p.G297S		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	297						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GAGCAGTGACGGCACTGTGGA	0.632													False	0	False	1:18692065	0	A	18692065	G	A	18692065	3	1	88	1	0	0	0	0	1	0	0	0	7649	1116	39	1	911	1	IGSF21	1	18692065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86	18692065	230558556	227	7939											
IGSF21	84966	broad.mit.edu	37	chr1	18703915	18703915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatcccaagaggaacggaGgactctaatggtaagtctct	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18703915G>A	ENST00000251296.1	+	9	1706	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	441						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GAGGAACGGAGGACTCTAATG	0.478													False	0	False	1:18703915	0	A	18703915	G	A	18703915	2	1	88	1	0	0	0	0	0	0	0	1	7649	991	35	2		2	IGSF21	1	18703915	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11850	18703915	230546706	228	7940											
KLHDC7A	127707	broad.mit.edu	37	chr1	18808505	18808505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgacacaaagggtgcagccGaaagagccgcctccccgcag	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18808505G>A	ENST00000400664.1	+	1	1082	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	344						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGCAGCCGAAAGAGCCGC	0.672													False	0	True	1:18808505	0	A	18808505	G	A	18808505	3	1	88	1	0	0	0	0	1	0	0	0	8410	1059	37	1	1032	1	KLHDC7A	1	18808505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104590	18808505	230442116	229	7941											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809562	18809562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcgccgtgtaccgctgcaGcgccagcacccggctctggt	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18809562G>T	ENST00000400664.1	+	1	2139	c.2087G>T	c.(2086-2088)aGc>aTc	p.S696I		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	696						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TACCGCTGCAGCGCCAGCACC	0.662													False	0	False	1:18809562	0	T	18809562	G	T	18809562	3	4	88	1	0	0	0	0	1	0	0	0	8410	971	34	3	2089	3	KLHDC7A	1	18809562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1057	18809562	230441059	230	7942											
PAX7	5081	broad.mit.edu	37	chr1	19018338	19018338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcggaccacattcacggCcgagcagctggaggagctgg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19018338C>T	ENST00000420770.2	+	5	760	c.677C>T	c.(676-678)gCc>gTc	p.A226V	PAX7_ENST00000400661.3_Missense_Mutation_p.A224V|PAX7_ENST00000375375.3_Missense_Mutation_p.A226V	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	226					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ACATTCACGGCCGAGCAGCTG	0.637			T	FOXO1A	alveolar rhabdomyosarcoma								False	0	False	1:19018338	0	T	19018338	C	T	19018338	3	4	88	1	0	0	0	0	1	0	0	0	11552	739	26	2	695	2	PAX7	1	19018338	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208776	19018338	230232283	231	7943											
TAS1R2	80834	broad.mit.edu	37	chr1	19166262	19166262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatggtgaccagcaccccgCtgtaggcagacatgaaggtg	14	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19166262C>T	ENST00000375371.3	-	6	2372	c.2351G>A	c.(2350-2352)aGc>aAc	p.S784N		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	784					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAGCACCCCGCTGTAGGCAGA	0.567													False	0	False	1:19166262	0	T	19166262	C	T	19166262	3	4	88	1	0	0	0	0	1	0	0	0	15645	797	28	2	172	2	TAS1R2	1	19166262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147924	19166262	230084359	232	7944											
TAS1R2	80834	broad.mit.edu	37	chr1	19175848	19175848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaccgtgttgttgatgGtgtgccaggagatgtcttgg	17	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19175848G>A	ENST00000375371.3	-	4	1475	c.1454C>T	c.(1453-1455)aCc>aTc	p.T485I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	485					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GTTGTTGATGGTGTGCCAGGA	0.637													False	0	False	1:19175848	0	A	19175848	G	A	19175848	3	1	88	1	0	0	0	0	1	0	0	0	15645	1261	44	2	1077	2	TAS1R2	1	19175848	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9586	19175848	230074773	233	7945											
TAS1R2	80834	broad.mit.edu	37	chr1	19181132	19181132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtggtacagggtcaggtCgggcgagaacacgaccacga	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19181132C>T	ENST00000375371.3	-	3	853	c.832G>A	c.(832-834)Gac>Aac	p.D278N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	278					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGGGTCAGGTCGGGCGAGAAC	0.632													False	0	True	1:19181132	0	T	19181132	C	T	19181132	3	4	88	1	0	0	0	0	1	0	0	0	15645	884	31	1	1703	1	TAS1R2	1	19181132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5284	19181132	230069489	234	7946											
ALDH4A1	8659	broad.mit.edu	37	chr1	19209672	19209672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcagtgaagttaaagggCgagatggccgccacgaagcc	14	9	0	2	rs142063145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19209672C>T	ENST00000375341.3	-	7	881	c.624G>A	c.(622-624)tcG>tcA	p.S208S	ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000538839.1_Silent_p.S208S|ALDH4A1_ENST00000290597.5_Silent_p.S208S|ALDH4A1_ENST00000538309.1_Silent_p.S148S|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	208					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AGTTAAAGGGCGAGATGGCCG	0.667													False	0	True	1:19209672	0	T	19209672	C	T	19209672	2	4	88	1	0	0	0	0	0	0	0	1	501	755	27	1		1	ALDH4A1	1	19209672	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28540	19209672	230040949	235	7947											
ALDH4A1	8659	broad.mit.edu	37	chr1	19209781	19209781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcaggtacctccagacCccggtacaccgtgctgttgg	11	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19209781C>T	ENST00000375341.3	-	6	852	c.595G>A	c.(595-597)Ggt>Agt	p.G199S	ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G199S|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G199S|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G139S|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	199					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	ACCTCCAGACCCCGGTACACC	0.657													False	0	True	1:19209781	0	T	19209781	C	T	19209781	3	4	88	1	0	0	0	0	1	0	0	0	501	623	22	2	1136	2	ALDH4A1	1	19209781	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109	19209781	230040840	236	7948											
ALDH4A1	8659	broad.mit.edu	37	chr1	19212023	19212023	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgcggcccactcagcatgtCtgccgccttcaggaagatct	11	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19212023C>A	ENST00000375341.3	-	5	654	c.397G>T	c.(397-399)Gac>Tac	p.D133Y	ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.D133Y|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.D133Y|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.D73Y|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	133					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CTCAGCATGTCTGCCGCCTTC	0.662													False	0	False	1:19212023	0	A	19212023	C	A	19212023	3	1	88	1	0	0	0	0	1	0	0	0	501	913	32	3	1338	3	ALDH4A1	1	19212023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2242	19212023	230038598	237	7949											
UBR4	23352	broad.mit.edu	37	chr1	19428113	19428113	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgcacacagccatgaaGgccttggtttctgattctgt	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19428113G>T	ENST00000375267.2	-	88	12927	c.12924C>A	c.(12922-12924)gcC>gcA	p.A4308A	UBR4_ENST00000375226.2_Silent_p.A4284A|UBR4_ENST00000375217.2_Silent_p.A4301A|UBR4_ENST00000543981.1_5'UTR|UBR4_ENST00000375224.1_Silent_p.A15A|UBR4_ENST00000375254.3_Silent_p.A4308A			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4308					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCATGAAGGCCTTGGTTT	0.493													False	0	False	1:19428113	0	T	19428113	G	T	19428113	2	4	88	1	0	0	0	0	0	0	0	1	16988	987	35	3		3	UBR4	1	19428113	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216090	19428113	229822508	238	7950											
UBR4	23352	broad.mit.edu	37	chr1	19431088	19431088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctctttacctgtgagacTtttaagggcataaccctgct	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19431088T>C	ENST00000375267.2	-	86	12721	c.12718A>G	c.(12718-12720)Agt>Ggt	p.S4240G	UBR4_ENST00000375226.2_Missense_Mutation_p.S4216G|UBR4_ENST00000375217.2_Missense_Mutation_p.S4233G|UBR4_ENST00000375224.1_5'UTR|UBR4_ENST00000375254.3_Missense_Mutation_p.S4240G			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4240					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTGTGAGACTTTTAAGGGCA	0.517													False	0	True	1:19431088	0	C	19431088	T	C	19431088	3	2	88	1	0	0	0	0	1	0	0	0	16988	1609	56	4	2917	4	UBR4	1	19431088	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2975	19431088	229819533	239	7951											
UBR4	23352	broad.mit.edu	37	chr1	19447793	19447793	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggctgaggaggaagaagcaCtggaggatcccgaagaggct	18	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19447793C>A	ENST00000375267.2	-	68	10034	c.10031G>T	c.(10030-10032)aGt>aTt	p.S3344I	UBR4_ENST00000375226.2_Missense_Mutation_p.S3320I|UBR4_ENST00000375217.2_Missense_Mutation_p.S3337I|UBR4_ENST00000375254.3_Missense_Mutation_p.S3344I			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3344	Ser-rich.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGAAGAAGCACTGGAGGATCC	0.557													False	0	False	1:19447793	0	A	19447793	C	A	19447793	3	1	88	1	0	0	0	0	1	0	0	0	16988	565	20	3	5676	3	UBR4	1	19447793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16705	19447793	229802828	240	7952											
UBR4	23352	broad.mit.edu	37	chr1	19470518	19470518	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagagggtaaagtcacatgtCtccgtttgttcctgggcctt	11	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19470518C>T	ENST00000375267.2	-	55	8138	c.8135G>A	c.(8134-8136)aGa>aAa	p.R2712K	UBR4_ENST00000375226.2_Missense_Mutation_p.R2723K|UBR4_ENST00000375217.2_Missense_Mutation_p.R2740K|UBR4_ENST00000375254.3_Missense_Mutation_p.R2712K			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2712					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGTCACATGTCTCCGTTTGTT	0.488													False	0	False	1:19470518	0	T	19470518	C	T	19470518	3	4	88	1	0	0	0	0	1	0	0	0	16988	913	32	2	7624	2	UBR4	1	19470518	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22725	19470518	229780103	241	7953											
UBR4	23352	broad.mit.edu	37	chr1	19500066	19500066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctttgatggtggtaaaattCctaggatcctccacagtatc	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19500066C>T	ENST00000375267.2	-	23	3035	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	UBR4_ENST00000375226.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375217.2_Missense_Mutation_p.G1011E|UBR4_ENST00000375254.3_Missense_Mutation_p.G1011E			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1011					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTAAAATTCCTAGGATCCT	0.458													False	0	False	1:19500066	0	T	19500066	C	T	19500066	3	4	88	1	0	0	0	0	1	0	0	0	16988	855	30	2	12855	2	UBR4	1	19500066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29548	19500066	229750555	242	7954											
UBR4	23352	broad.mit.edu	37	chr1	19524267	19524267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatatagcgtaggaaatatgGcaggttcaaacatacacgca	10	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19524267G>T	ENST00000375267.2	-	7	793	c.790C>A	c.(790-792)Cca>Aca	p.P264T	UBR4_ENST00000375226.2_Missense_Mutation_p.P264T|UBR4_ENST00000375217.2_Missense_Mutation_p.P264T|UBR4_ENST00000375254.3_Missense_Mutation_p.P264T			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	264					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGAAATATGGCAGGTTCAAA	0.423													False	0	False	1:19524267	0	T	19524267	G	T	19524267	3	4	88	1	0	0	0	0	1	0	0	0	16988	1203	42	3	15161	3	UBR4	1	19524267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24201	19524267	229726354	243	7955											
UBR4	23352	broad.mit.edu	37	chr1	19525329	19525329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtttggggcagcttggCggatttcatcattgctgtaa	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19525329C>T	ENST00000375267.2	-	4	475	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	UBR4_ENST00000375226.2_Missense_Mutation_p.A158T|UBR4_ENST00000375217.2_Missense_Mutation_p.A158T|UBR4_ENST00000375254.3_Missense_Mutation_p.A158T			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	158					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCAGCTTGGCGGATTTCATC	0.468													False	0	False	1:19525329	0	T	19525329	C	T	19525329	3	4	88	1	0	0	0	0	1	0	0	0	16988	768	27	1	15491	1	UBR4	1	19525329	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1062	19525329	229725292	244	7956											
MRTO4	51154	broad.mit.edu	37	chr1	19584466	19584466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctgggcctgcccaccGccctcaagagaggtatgggc	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19584466G>A	ENST00000330263.4	+	6	778	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	161					ribosome biogenesis	nuclear membrane|nucleolus		p.A161T(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCCACCGCCCTCAAGAG	0.597													False	0	True	1:19584466	0	A	19584466	G	A	19584466	3	1	88	1	0	0	0	0	1	0	0	0	9919	1087	38	1	503	1	MRTO4	1	19584466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59137	19584466	229666155	245	7957											
MRTO4	51154	broad.mit.edu	37	chr1	19585280	19585280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacgacttgccagagagcGcatctgagtccacagaagag	13	10	1	5	rs146948534		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19585280G>A	ENST00000330263.4	+	8	973	c.676G>A	c.(676-678)Gca>Aca	p.A226T		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	226					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGAGAGCGCATCTGAGTC	0.507													False	0	False	1:19585280	0	A	19585280	G	A	19585280	3	1	88	1	0	0	0	0	1	0	0	0	9919	1087	38	1	706	1	MRTO4	1	19585280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	814	19585280	229665341	246	7958											
AKR7L	246181	broad.mit.edu	37	chr1	19600445	19600445	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggaaggccgtgtctatctCggtgtggccgcgctccagga	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19600445C>T	ENST00000420396.2	-	0	123				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTGTCTATCTCGGTGTGGCCG	0.701													False	0	False	1:19600445	0	T	19600445	C	T	19600445	1	4	88	0	1	0	0	0	0	0	0	0	477	893	31	1		1	AKR7L	1	19600445	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15165	19600445	229650176	247	7959											
AKR7A3	22977	broad.mit.edu	37	chr1	19609268	19609268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgagtaaccaaatgccagGcttgattaaaggcgtccacg	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19609268G>A	ENST00000361640.4	-	7	1493	c.953C>T	c.(952-954)gCc>gTc	p.A318V		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	318					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAATGCCAGGCTTGATTAAA	0.557													False	0	False	1:19609268	0	A	19609268	G	A	19609268	3	1	88	1	0	0	0	0	1	0	0	0	476	1203	42	2	46	2	AKR7A3	1	19609268	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8823	19609268	229641353	248	7960											
AKR7A2	8574	broad.mit.edu	37	chr1	19633502	19633502	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacccccggctcaccgattcCtgtaggtctcagcccagcta	8	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19633502C>A	ENST00000235835.3	-	5	803	c.782G>T	c.(781-783)aGg>aTg	p.R261M		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	261					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCGATTCCTGTAGGTCTC	0.582													False	0	False	1:19633502	0	A	19633502	C	A	19633502	3	1	88	1	0	0	0	0	1	0	0	0	475	681	24	3	309	3	AKR7A2	1	19633502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24234	19633502	229617119	249	7961											
HTR6	3362	broad.mit.edu	37	chr1	19992447	19992447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaacttcttcctggtgtcGctcttcacgtctgacctgat	7	14	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19992447G>A	ENST00000289753.1	+	1	668	c.201G>A	c.(199-201)tcG>tcA	p.S67S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	67					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TCCTGGTGTCGCTCTTCACGT	0.682													False	0	False	1:19992447	0	A	19992447	G	A	19992447	2	1	88	1	0	0	0	0	0	0	0	1	7501	1074	38	1		1	HTR6	1	19992447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	358945	19992447	229258174	250	7962											
TMCO4	255104	broad.mit.edu	37	chr1	20009753	20009753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccggatatgggaccctggGtttgcccaacctggtggggg	16	11	0	0	rs144713907	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20009753G>A	ENST00000294543.6	-	16	1926	c.1685C>T	c.(1684-1686)aCc>aTc	p.T562I	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Missense_Mutation_p.T522I	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	562						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGGACCCTGGGTTTGCCCAAC	0.667													False	0	True	1:20009753	0	A	20009753	G	A	20009753	3	1	88	1	0	0	0	0	1	0	0	0	16080	1261	44	2	223	2	TMCO4	1	20009753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17306	20009753	229240868	251	7963											
TMCO4	255104	broad.mit.edu	37	chr1	20063940	20063940	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagccaatcaaggtgacagGtcgtcgcccctgaagggaaa	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20063940G>T	ENST00000294543.6	-	13	1430	c.1189C>A	c.(1189-1191)Cct>Act	p.P397T	TMCO4_ENST00000375127.1_Missense_Mutation_p.P397T|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.P357T	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	397						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AAGGTGACAGGTCGTCGCCCC	0.517													False	0	False	1:20063940	0	T	20063940	G	T	20063940	3	4	88	1	0	0	0	0	1	0	0	0	16080	1261	44	3	731	3	TMCO4	1	20063940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54187	20063940	229186681	252	7964											
OTUD3	23252	broad.mit.edu	37	chr1	20216981	20216981	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acatgataaagcagcgggaaGattttgaaccctttgtagaa	10	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20216981G>T	ENST00000375120.3	+	2	326	c.325G>T	c.(325-327)Gat>Tat	p.D109Y	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	109	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGGGAAGATTTTGAACC	0.438													False	0	False	1:20216981	0	T	20216981	G	T	20216981	3	4	88	1	0	0	0	0	1	0	0	0	11381	942	33	3	331	3	OTUD3	1	20216981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153041	20216981	229033640	253	7965											
PLA2G2E	30814	broad.mit.edu	37	chr1	20248849	20248849	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttccagtttgggctcacaGcccagcttctccagacgccc	8	16	2	1	rs143904654	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20248849G>T	ENST00000375116.3	-	3	285	c.228C>A	c.(226-228)ggC>ggA	p.G76G		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	76					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCTCACAGCCCAGCTTCT	0.587													False	0	True	1:20248849	0	T	20248849	G	T	20248849	2	4	88	1	0	0	0	0	0	0	0	1	12067	958	34	3		3	PLA2G2E	1	20248849	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31868	20248849	229001772	254	7966											
UBXN10	127733	broad.mit.edu	37	chr1	20517570	20517570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgagcttgtgccgtggagagGaaattcatcgtccgaaccaa	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20517570G>T	ENST00000375099.3	+	2	600	c.516G>T	c.(514-516)agG>agT	p.R172S		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	172										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CCGTGGAGAGGAAATTCATCG	0.522													False	0	True	1:20517570	0	T	20517570	G	T	20517570	3	4	88	1	0	0	0	0	1	0	0	0	16996	1165	41	3	518	3	UBXN10	1	20517570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268721	20517570	228733051	255	7967											
DDOST	1650	broad.mit.edu	37	chr1	20987419	20987419	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagattgtcatagaggaattCcccatactttatgagagaca	9	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20987419C>A	ENST00000375048.3	-	2	376	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	DDOST_ENST00000477229.1_5'UTR|DDOST_ENST00000415136.2_Intron|DDOST_ENST00000602624.2_Nonsense_Mutation_p.E74*	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	91					innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGAGGAATTCCCCATACTTT	0.512													False	0	True	1:20987419	0	A	20987419	C	A	20987419	4	1	88	1	0	0	0	0	0	1	0	0	4360	864	30	3	1139	3	DDOST	1	20987419	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	469849	20987419	228263202	256	7968											
KIF17	57576	broad.mit.edu	37	chr1	21014359	21014359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatactgaaaagcaggcGggtactcagcgctgctggca	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21014359G>A	ENST00000247986.2	-	8	1770	c.1460C>T	c.(1459-1461)cCg>cTg	p.P487L	KIF17_ENST00000375044.1_Missense_Mutation_p.P387L|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Missense_Mutation_p.P487L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	487					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AAAAGCAGGCGGGTACTCAGC	0.547													False	0	True	1:21014359	0	A	21014359	G	A	21014359	3	1	88	1	0	0	0	0	1	0	0	0	8329	1116	39	1	1661	1	KIF17	1	21014359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26940	21014359	228236262	257	7969											
KIF17	57576	broad.mit.edu	37	chr1	21031182	21031182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgagtcctgcagcagcCgcgtcagcttcgagtcacgg	13	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21031182C>T	ENST00000247986.2	-	5	1191	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	KIF17_ENST00000375044.1_Missense_Mutation_p.R194Q|KIF17_ENST00000400463.3_Missense_Mutation_p.R294Q			Q9P2E2	KIF17_HUMAN	kinesin family member 17	294					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGCAGCAGCCGCGTCAGCTT	0.627													False	0	False	1:21031182	0	T	21031182	C	T	21031182	3	4	88	1	0	0	0	0	1	0	0	0	8329	652	23	1	2252	1	KIF17	1	21031182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16823	21031182	228219439	258	7970											
KIF17	57576	broad.mit.edu	37	chr1	21042020	21042020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgtgctcgaaggccctgGggatgatgcctctctgggag	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21042020G>A	ENST00000247986.2	-	2	654	c.344C>T	c.(343-345)cCc>cTc	p.P115L	KIF17_ENST00000375044.1_Missense_Mutation_p.P15L|KIF17_ENST00000400463.3_Missense_Mutation_p.P115L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	115	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GAAGGCCCTGGGGATGATGCC	0.652													False	0	True	1:21042020	0	A	21042020	G	A	21042020	3	1	88	1	0	0	0	0	1	0	0	0	8329	1232	43	2	2801	2	KIF17	1	21042020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10838	21042020	228208601	259	7971											
EIF4G3	8672	broad.mit.edu	37	chr1	21133870	21133870	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgtgaagaatgccgtgacaGatttcagagccacgcccttc	10	12	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21133870G>A	ENST00000602326.1	-	35	5301	c.4718C>T	c.(4717-4719)tCt>tTt	p.S1573F	EIF4G3_ENST00000264211.8_Missense_Mutation_p.S1567F|EIF4G3_ENST00000374935.3_Missense_Mutation_p.S1287F|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S1573F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S1567F|EIF4G3_ENST00000536266.1_Missense_Mutation_p.S1171F|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S1057F	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1567	EIF4A-binding (By similarity).|Necessary but not sufficient for MKNK1- binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGCCGTGACAGATTTCAGAGC	0.463													False	0	False	1:21133870	0	A	21133870	G	A	21133870	3	1	88	1	0	0	0	0	1	0	0	0	5070	942	33	2	61	2	EIF4G3	1	21133870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91850	21133870	228116751	260	7972											
EIF4G3	8672	broad.mit.edu	37	chr1	21268446	21268446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccagtggaatatcatTaggtgctacactacagggtt	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268446T>C	ENST00000602326.1	-	12	1634	c.1051A>G	c.(1051-1053)Aat>Gat	p.N351D	EIF4G3_ENST00000264211.8_Missense_Mutation_p.N345D|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.N351D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.N345D|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000356916.3_Missense_Mutation_p.N356D|EIF4G3_ENST00000374927.4_Missense_Mutation_p.N345D	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	345					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGAATATCATTAGGTGCTACA	0.368													False	0	False	1:21268446	0	C	21268446	T	C	21268446	3	2	88	1	0	0	0	0	1	0	0	0	5070	1754	61	4	3820	4	EIF4G3	1	21268446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	134576	21268446	227982175	261	7973											
EIF4G3	8672	broad.mit.edu	37	chr1	21268661	21268661	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caattgtacttcgagcaacaGaagaaacagtggtaggtgat	11	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268661G>A	ENST00000602326.1	-	12	1419	c.836C>T	c.(835-837)tCt>tTt	p.S279F	EIF4G3_ENST00000264211.8_Missense_Mutation_p.S273F|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S279F|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S273F|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000356916.3_Missense_Mutation_p.S284F|EIF4G3_ENST00000374927.4_Missense_Mutation_p.S273F	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	273					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCGAGCAACAGAAGAAACAGT	0.463													False	0	False	1:21268661	0	A	21268661	G	A	21268661	3	1	88	1	0	0	0	0	1	0	0	0	5070	942	33	2	4035	2	EIF4G3	1	21268661	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215	21268661	227981960	262	7974											
EIF4G3	8672	broad.mit.edu	37	chr1	21307591	21307591	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cactgggtacggcatgggcaGatggttaaccatcatgatgt	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21307591G>T	ENST00000602326.1	-	7	764	c.181C>A	c.(181-183)Ctg>Atg	p.L61M	EIF4G3_ENST00000264211.8_Missense_Mutation_p.L54M|EIF4G3_ENST00000374935.3_Missense_Mutation_p.L54M|EIF4G3_ENST00000374937.3_Missense_Mutation_p.L61M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L54M|EIF4G3_ENST00000356916.3_Missense_Mutation_p.L65M|EIF4G3_ENST00000374927.4_Missense_Mutation_p.L54M	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	54					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.L54L(1)|p.L61L(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGCATGGGCAGATGGTTAACC	0.517													False	0	False	1:21307591	0	T	21307591	G	T	21307591	3	4	88	1	0	0	0	0	1	0	0	0	5070	933	33	3	4713	3	EIF4G3	1	21307591	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38930	21307591	227943030	263	7975											
ECE1	1889	broad.mit.edu	37	chr1	21553685	21553685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatgagtcagctcatggcCcacgacgacacctatgccac	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21553685C>T	ENST00000415912.2	-	16	1893	c.1768G>A	c.(1768-1770)Ggc>Agc	p.G590S	ECE1_ENST00000436918.2_Missense_Mutation_p.G606S|ECE1_ENST00000374893.6_Missense_Mutation_p.G606S|ECE1_ENST00000264205.6_Missense_Mutation_p.G603S|ECE1_ENST00000357071.4_Missense_Mutation_p.G594S	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	606					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGCTCATGGCCCACGACGACA	0.507													False	0	True	1:21553685	0	T	21553685	C	T	21553685	3	4	88	1	0	0	0	0	1	0	0	0	4919	623	22	2	512	2	ECE1	1	21553685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246094	21553685	227696936	264	7976											
ECE1	1889	broad.mit.edu	37	chr1	21585263	21585263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgaggtgcggtagtgggCggtgaccacctgcagggtgt	21	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21585263C>T	ENST00000415912.2	-	6	762	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	ECE1_ENST00000436918.2_Missense_Mutation_p.A229T|ECE1_ENST00000374893.6_Missense_Mutation_p.A229T|ECE1_ENST00000264205.6_Missense_Mutation_p.A226T|ECE1_ENST00000357071.4_Missense_Mutation_p.A217T	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	229					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CGGTAGTGGGCGGTGACCACC	0.597													False	0	True	1:21585263	0	T	21585263	C	T	21585263	3	4	88	1	0	0	0	0	1	0	0	0	4919	768	27	1	1683	1	ECE1	1	21585263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31578	21585263	227665358	265	7977											
NBPF3	84224	broad.mit.edu	37	chr1	21771700	21771700	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccgacatcaagagctgCgagatccaacaggtaaaaat	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21771700C>T	ENST00000318249.5	+	2	471	c.121C>T	c.(121-123)Cga>Tga	p.R41*	NBPF3_ENST00000318220.6_5'UTR|NBPF3_ENST00000478653.2_3'UTR|NBPF3_ENST00000454000.2_Nonsense_Mutation_p.R41*|NBPF3_ENST00000342104.5_Nonsense_Mutation_p.R41*	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	41						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAAGAGCTGCGAGATCCAAC	0.537													False	0	False	1:21771700	0	T	21771700	C	T	21771700	4	4	88	1	0	0	0	0	0	1	0	0	10265	760	27	1	123	1	NBPF3	1	21771700	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186437	21771700	227478921	266	7978											
NBPF3	84224	broad.mit.edu	37	chr1	21797189	21797189	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcggctgctcacagaagaGaagcttgcagaggagctcgg	16	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21797189G>A	ENST00000318220.6	+	7	1288	c.240G>A	c.(238-240)gaG>gaA	p.E80E	NBPF3_ENST00000318249.5_Silent_p.E136E|NBPF3_ENST00000454000.2_Silent_p.E66E|NBPF3_ENST00000342104.5_Silent_p.E136E			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	136						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCACAGAAGAGAAGCTTGCAG	0.542													False	0	True	1:21797189	0	A	21797189	G	A	21797189	2	1	88	1	0	0	0	0	0	0	0	1	10265	933	33	2		2	NBPF3	1	21797189	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25489	21797189	227453432	267	7979											
ALPL	249	broad.mit.edu	37	chr1	21889699	21889699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcaccgtgggggtaagcGcagccactgagcgttcccgg	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21889699G>A	ENST00000374840.3	+	5	644	c.394G>A	c.(394-396)Gca>Aca	p.A132T	ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.A132T|ALPL_ENST00000540617.1_Missense_Mutation_p.A77T|ALPL_ENST00000539907.1_Missense_Mutation_p.A55T|ALPL_ENST00000374832.1_Missense_Mutation_p.A132T	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	132			A -> V (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GGGGGTAAGCGCAGCCACTGA	0.667													False	0	False	1:21889699	0	A	21889699	G	A	21889699	3	1	88	1	0	0	0	0	1	0	0	0	547	1087	38	1	408	1	ALPL	1	21889699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92510	21889699	227360922	268	7980											
ALPL	249	broad.mit.edu	37	chr1	21890669	21890669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgagccagggctgtaaggAcatcgcctaccagctcatgc	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21890669A>G	ENST00000374840.3	+	6	858	c.608A>G	c.(607-609)gAc>gGc	p.D203G	ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.D203G|ALPL_ENST00000540617.1_Missense_Mutation_p.D148G|ALPL_ENST00000539907.1_Missense_Mutation_p.D126G|ALPL_ENST00000374832.1_Missense_Mutation_p.D203G	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	203					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GGCTGTAAGGACATCGCCTAC	0.657													False	0	False	1:21890669	0	G	21890669	A	G	21890669	3	3	88	1	0	0	0	0	1	0	0	0	547	275	10	4	626	4	ALPL	1	21890669	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	970	21890669	227359952	269	7981											
RAP1GAP	5909	broad.mit.edu	37	chr1	21928254	21928254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctgtgagacgtgcccGctgtctggggtcttctgacc	14	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21928254G>A	ENST00000542643.2	-	22	1955	c.1653C>T	c.(1651-1653)agC>agT	p.S551S	RAP1GAP_ENST00000374765.4_Silent_p.S525S|RAP1GAP_ENST00000374761.2_Silent_p.S556S|RAP1GAP_ENST00000290101.4_Silent_p.S589S|RAP1GAP_ENST00000374763.2_Silent_p.S610S	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	525					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGACGTGCCCGCTGTCTGGGG	0.667													False	0	True	1:21928254	0	A	21928254	G	A	21928254	2	1	88	1	0	0	0	0	0	0	0	1	13116	1078	38	1		1	RAP1GAP	1	21928254	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37585	21928254	227322367	270	7982											
RAP1GAP	5909	broad.mit.edu	37	chr1	21936611	21936611	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggctccaagagcgcccAccttgtagagggggccatca	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21936611A>G	ENST00000542643.2	-	15	1302		c.e15+1		RAP1GAP_ENST00000374765.4_Splice_Site|RAP1GAP_ENST00000374761.2_Splice_Site|RAP1GAP_ENST00000290101.4_Splice_Site|RAP1GAP_ENST00000374763.2_Splice_Site	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein						regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AAGAGCGCCCACCTTGTAGAG	0.627													False	0	True	1:21936611	0	G	21936611	A	G	21936611	5	3	88	1	0	0	0	0	0	0	1	0	13116	173	6	4	1116	4	RAP1GAP	1	21936611	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8357	21936611	227314010	271	7983											
USP48	84196	broad.mit.edu	37	chr1	22078012	22078012	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaataccttcaaaaattcCgagatacaatctgttaactg	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22078012C>A	ENST00000308271.9	-	6	1410	c.762G>T	c.(760-762)tcG>tcT	p.S254S	USP48_ENST00000421625.2_Silent_p.S254S|USP48_ENST00000529637.1_Silent_p.S254S|USP48_ENST00000400301.1_Silent_p.S254S	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	254					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.S254S(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCAAAAATTCCGAGATACAAT	0.358													False	0	False	1:22078012	0	A	22078012	C	A	22078012	2	1	88	1	0	0	0	0	0	0	0	1	17163	639	23	3		3	USP48	1	22078012	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141401	22078012	227172609	272	7984											
LDLRAD2	401944	broad.mit.edu	37	chr1	22140902	22140902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgctgcagccgacctggcgGaactgtgcgggcagacgtgg	17	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22140902G>A	ENST00000344642.2	+	2	284	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.E33K	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	33						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		CGACCTGGCGGAACTGTGCGG	0.692													False	0	False	1:22140902	0	A	22140902	G	A	22140902	3	1	88	1	0	0	0	0	1	0	0	0	8757	1175	41	2	103	2	LDLRAD2	1	22140902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62890	22140902	227109719	273	7985											
LDLRAD2	401944	broad.mit.edu	37	chr1	22140961	22140961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgctcgcacgccgcatcGcgcaggttctacttcgtggc	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22140961G>A	ENST00000344642.2	+	2	343	c.156G>A	c.(154-156)tcG>tcA	p.S52S	LDLRAD2_ENST00000543870.1_Silent_p.S52S	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	52						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		ACGCCGCATCGCGCAGGTTCT	0.706													False	0	False	1:22140961	0	A	22140961	G	A	22140961	2	1	88	1	0	0	0	0	0	0	0	1	8757	1074	38	1		1	LDLRAD2	1	22140961	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	22140961	227109660	274	7986											
HSPG2	3339	broad.mit.edu	37	chr1	22162127	22162127	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagctctggtccaagttctgGattctataaagaaaaaataa	7	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22162127G>T	ENST00000374695.3	-	76	10438	c.10359C>A	c.(10357-10359)atC>atA	p.I3453I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3453	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCAAGTTCTGGATTCTATAAA	0.502													False	0	False	1:22162127	0	T	22162127	G	T	22162127	2	4	88	1	0	0	0	0	0	0	0	1	7480	1164	41	3		3	HSPG2	1	22162127	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21166	22162127	227088494	275	7987											
HSPG2	3339	broad.mit.edu	37	chr1	22222460	22222460	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtccccactgcccaggtcgtCtataagcaaaaaagagatgt	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22222460C>A	ENST00000374695.3	-	3	279		c.e3-1			NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCAGGTCGTCTATAAGCAAA	0.552													False	0	False	1:22222460	0	A	22222460	C	A	22222460	5	1	88	1	0	0	0	0	0	0	1	0	7480	927	32	3	13356	3	HSPG2	1	22222460	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60333	22222460	227028161	276	7988											
CDC42	998	broad.mit.edu	37	chr1	22417980	22417980	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccctggagcctccagaaccGaagaagagccgcaggtgtgt	14	12	0	3	rs16826564		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22417980G>A	ENST00000344548.3	+	7	797	c.546G>A	c.(544-546)ccG>ccA	p.P182P	CDC42_ENST00000421089.2_Silent_p.P224P|CDC42_ENST00000400259.1_Silent_p.P182P	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	182					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		CTCCAGAACCGAAGAAGAGCC	0.458													False	0	False	1:22417980	0	A	22417980	G	A	22417980	2	1	88	1	0	0	0	0	0	0	0	1	3094	1045	37	1		1	CDC42	1	22417980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195520	22417980	226832641	277	7989											
WNT4	54361	broad.mit.edu	37	chr1	22447815	22447815	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaaggccacaccgtaggcGatgttgtcagagcatcctga	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22447815G>A	ENST00000290167.6	-	4	520	c.477C>T	c.(475-477)atC>atT	p.I159I	WNT4_ENST00000542383.1_Silent_p.I104I	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	159					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CACCGTAGGCGATGTTGTCAG	0.622													False	0	False	1:22447815	0	A	22447815	G	A	22447815	2	1	88	1	0	0	0	0	0	0	0	1	17474	1048	37	1		1	WNT4	1	22447815	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29835	22447815	226802806	278	7990											
ZBTB40	9923	broad.mit.edu	37	chr1	22832722	22832722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaaatcagccactttgCcaagcaccacaggtattagt	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22832722C>T	ENST00000404138.1	+	7	1859	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	ZBTB40_ENST00000374651.4_Missense_Mutation_p.P338S|ZBTB40_ENST00000375647.4_Missense_Mutation_p.P450S	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	450					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGCCACTTTGCCAAGCACCAC	0.488													False	0	False	1:22832722	0	T	22832722	C	T	22832722	3	4	88	1	0	0	0	0	1	0	0	0	17625	739	26	2	1366	2	ZBTB40	1	22832722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	384907	22832722	226417899	279	7991											
ZBTB40	9923	broad.mit.edu	37	chr1	22846692	22846692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagatcttcagtgccccgtCcatgctggagcggcacgtgg	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22846692C>T	ENST00000404138.1	+	15	3483	c.2972C>T	c.(2971-2973)tCc>tTc	p.S991F	ZBTB40_ENST00000374651.4_Missense_Mutation_p.S879F|ZBTB40_ENST00000375647.4_Missense_Mutation_p.S991F	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	991					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGTGCCCCGTCCATGCTGGAG	0.607													False	0	False	1:22846692	0	T	22846692	C	T	22846692	3	4	88	1	0	0	0	0	1	0	0	0	17625	855	30	2	3022	2	ZBTB40	1	22846692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13970	22846692	226403929	280	7992											
EPHA8	2046	broad.mit.edu	37	chr1	22903086	22903086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggtcccctcagcaagcGcggcttctacctggccttcc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22903086G>A	ENST00000166244.3	+	3	608	c.536G>A	c.(535-537)cGc>cAc	p.R179H	EPHA8_ENST00000374644.4_Missense_Mutation_p.R179H|EPHA8_ENST00000538803.1_Missense_Mutation_p.R179H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	179			R -> C (in a gastric adenocarcinoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCAGCAAGCGCGGCTTCTAC	0.612													False	0	False	1:22903086	0	A	22903086	G	A	22903086	3	1	88	1	0	0	0	0	1	0	0	0	5205	1087	38	1	546	1	EPHA8	1	22903086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56394	22903086	226347535	281	7993											
EPHA8	2046	broad.mit.edu	37	chr1	22903205	22903205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttctcggaggcagtgAcgggggccgactcgtcctca	14	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22903205A>G	ENST00000166244.3	+	3	727	c.655A>G	c.(655-657)Acg>Gcg	p.T219A	EPHA8_ENST00000374644.4_Missense_Mutation_p.T219A|EPHA8_ENST00000538803.1_Missense_Mutation_p.T219A	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	219	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAGGCAGTGACGGGGGCCGA	0.637													False	0	False	1:22903205	0	G	22903205	A	G	22903205	3	3	88	1	0	0	0	0	1	0	0	0	5205	275	10	4	665	4	EPHA8	1	22903205	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	119	22903205	226347416	282	7994											
EPHA8	2046	broad.mit.edu	37	chr1	22913039	22913039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccgctgccctccccacaGccactccgcagctccagccg	8	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22913039G>A	ENST00000166244.3	+	4	962	c.890G>A	c.(889-891)aGc>aAc	p.S297N	EPHA8_ENST00000374644.4_Missense_Mutation_p.S297N|EPHA8_ENST00000538803.1_Missense_Mutation_p.S297N	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	297	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTCCCCACAGCCACTCCGCA	0.672													False	0	False	1:22913039	0	A	22913039	G	A	22913039	3	1	88	1	0	0	0	0	1	0	0	0	5205	971	34	2	904	2	EPHA8	1	22913039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9834	22913039	226337582	283	7995											
EPHA8	2046	broad.mit.edu	37	chr1	22924291	22924291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggacttcctgagcgagGcgtccatcatggggcaattc	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22924291G>A	ENST00000166244.3	+	11	2125	c.2053G>A	c.(2053-2055)Gcg>Acg	p.A685T		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	685	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGAGCGAGGCGTCCATCAT	0.662													False	0	False	1:22924291	0	A	22924291	G	A	22924291	3	1	88	1	0	0	0	0	1	0	0	0	5205	1203	42	2	2268	2	EPHA8	1	22924291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11252	22924291	226326330	284	7996											
EPHA8	2046	broad.mit.edu	37	chr1	22927925	22927925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagaccacttcgctgcgggCggatactcctctctgggcat	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22927925C>T	ENST00000166244.3	+	16	2934	c.2862C>T	c.(2860-2862)ggC>ggT	p.G954G		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	954	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCGCTGCGGGCGGATACTCCT	0.706													False	0	True	1:22927925	0	T	22927925	C	T	22927925	2	4	88	1	0	0	0	0	0	0	0	1	5205	755	27	1		1	EPHA8	1	22927925	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3634	22927925	226322696	285	7997											
C1QA	712	broad.mit.edu	37	chr1	22964203	22964203	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccgagcaccagacgggAagaaaggggaggcaggaaga	18	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22964203A>T	ENST00000374642.3	+	2	298	c.94A>T	c.(94-96)Aag>Tag	p.K32*	C1QA_ENST00000402322.1_Nonsense_Mutation_p.K32*	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	32	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCAGACGGGAAGAAAGGGGA	0.662													False	0	True	1:22964203	0	T	22964203	A	T	22964203	4	4	88	1	0	0	0	0	0	1	0	0	1969	247	9	5	96	5	C1QA	1	22964203	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36278	22964203	226286418	286	7998											
C1QC	714	broad.mit.edu	37	chr1	22973781	22973781	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggagaacccggcttaccCggccatcctgggaaaaatgg	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22973781C>T	ENST00000374639.3	+	3	361	c.243C>T	c.(241-243)ccC>ccT	p.P81P	C1QC_ENST00000374640.4_Silent_p.P81P|C1QC_ENST00000374637.1_Silent_p.P81P	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	81	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		p.P81P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCGGCTTACCCGGCCATCCTG	0.632													False	0	True	1:22973781	0	T	22973781	C	T	22973781	2	4	88	1	0	0	0	0	0	0	0	1	1972	639	23	1		1	C1QC	1	22973781	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9578	22973781	226276840	287	7999											
C1QC	714	broad.mit.edu	37	chr1	22973816	22973816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatggccccatgggaccccCtgggatgccaggggtgcccg	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22973816C>T	ENST00000374639.3	+	3	396	c.278C>T	c.(277-279)cCt>cTt	p.P93L	C1QC_ENST00000374640.4_Missense_Mutation_p.P93L|C1QC_ENST00000374637.1_Missense_Mutation_p.P93L	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	93	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGGACCCCCTGGGATGCCA	0.632													False	0	True	1:22973816	0	T	22973816	C	T	22973816	3	4	88	1	0	0	0	0	1	0	0	0	1972	681	24	2	284	2	C1QC	1	22973816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	22973816	226276805	288	8000											
C1QC	714	broad.mit.edu	37	chr1	22974234	22974234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatggtgggcatccagggCtctgacagcgtcttctccgg	14	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22974234C>T	ENST00000374639.3	+	3	814	c.696C>T	c.(694-696)ggC>ggT	p.G232G	C1QC_ENST00000374640.4_Silent_p.G232G|C1QC_ENST00000374637.1_Silent_p.G232G	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	232	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCATCCAGGGCTCTGACAGCG	0.637													False	0	True	1:22974234	0	T	22974234	C	T	22974234	2	4	88	1	0	0	0	0	0	0	0	1	1972	784	28	2		2	C1QC	1	22974234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418	22974234	226276387	289	8001											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	88	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-IB-7651-01A-11D-2154-08	13151	22987385	226263236	290	8002											
EPHB2	2048	broad.mit.edu	37	chr1	23191452	23191452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacccctccccgcgactcCggaggccgagaggacctcgt	13	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23191452C>T	ENST00000400191.3	+	5	1068	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	EPHB2_ENST00000544305.1_Silent_p.S350S|EPHB2_ENST00000374630.3_Silent_p.S350S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Silent_p.S350S|EPHB2_ENST00000374627.1_Silent_p.S344S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	350	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCCGCGACTCCGGAGGCCGAG	0.657													False	0	False	1:23191452	0	T	23191452	C	T	23191452	2	4	88	1	0	0	0	0	0	0	0	1	5207	639	23	1		1	EPHB2	1	23191452	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204067	23191452	226059169	291	8003											
EPHB2	2048	broad.mit.edu	37	chr1	23222070	23222070	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatcgccatcgtgtgtaAcaggtgggtggggtctccag	15	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23222070A>G	ENST00000400191.3	+	8	1715	c.1697A>G	c.(1696-1698)aAc>aGc	p.N566S	EPHB2_ENST00000374630.3_Missense_Mutation_p.N566S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.N566S|EPHB2_ENST00000374627.1_Missense_Mutation_p.N561S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	566					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ATCGTGTGTAACAGGTGGGTG	0.577													False	0	False	1:23222070	0	G	23222070	A	G	23222070	3	3	88	1	0	0	0	0	1	0	0	0	5207	43	2	4	1727	4	EPHB2	1	23222070	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30618	23222070	226028551	292	8004											
EPHB2	2048	broad.mit.edu	37	chr1	23240353	23240353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagcaatgactgttcttGcgggggataaaaaagggctt	14	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23240353G>A	ENST00000400191.3	+	17	3176	c.3158G>A	c.(3157-3159)tGc>tAc	p.C1053Y	EPHB2_ENST00000374632.3_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	1053					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GACTGTTCTTGCGGGGGATAA	0.463													False	0	False	1:23240353	0	A	23240353	G	A	23240353	3	1	88	1	0	0	0	0	1	0	0	0	5207	1334	46	2		2	EPHB2	1	23240353	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18283	23240353	226010268	293	8005											
KDM1A	23028	broad.mit.edu	37	chr1	23409708	23409708	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcgggagaacatacgAtccgtaactacccagccaca	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23409708A>C	ENST00000400181.4	+	21	2586	c.2482A>C	c.(2482-2484)Atc>Ctc	p.I828L	KDM1A_ENST00000542151.1_Missense_Mutation_p.I828L|KDM1A_ENST00000356634.3_Missense_Mutation_p.I804L|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	804	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGAACATACGATCCGTAACTA	0.483													False	0	False	1:23409708	0	C	23409708	A	C	23409708	3	2	88	1	0	0	0	0	1	0	0	0	8172	333	12	4	2564	4	KDM1A	1	23409708	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	169355	23409708	225840913	294	8006											
LUZP1	7798	broad.mit.edu	37	chr1	23419834	23419834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttaagctcttcttccaaCgattcaaagtgtttgatttg	6	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23419834C>T	ENST00000302291.4	-	4	1722	c.921G>A	c.(919-921)tcG>tcA	p.S307S	LUZP1_ENST00000314174.5_Silent_p.S307S|LUZP1_ENST00000374623.3_Silent_p.S307S|LUZP1_ENST00000418342.1_Silent_p.S307S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	307						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTTCTTCCAACGATTCAAAGT	0.338													False	0	False	1:23419834	0	T	23419834	C	T	23419834	2	4	88	1	0	0	0	0	0	0	0	1	9148	523	19	1		1	LUZP1	1	23419834	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10126	23419834	225830787	295	8007											
HTR1D	3352	broad.mit.edu	37	chr1	23519707	23519707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaagaagtcaaagagcgCcgggtggatccagcaggagt	17	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23519707C>A	ENST00000374619.1	-	1	1515	c.1006G>T	c.(1006-1008)Gcg>Tcg	p.A336S	HTR1D_ENST00000314113.3_Missense_Mutation_p.A336S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	336					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCAAAGAGCGCCGGGTGGATC	0.512													False	0	False	1:23519707	0	A	23519707	C	A	23519707	3	1	88	1	0	0	0	0	1	0	0	0	7488	739	26	3	131	3	HTR1D	1	23519707	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99873	23519707	225730914	296	8008											
HTR1D	3352	broad.mit.edu	37	chr1	23520685	23520686	+	Frame_Shift_Ins	INS	-	-	CA													gaggcctcctggggaaggccINSttctgctgactggttcagtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23520685_23520686insCA	ENST00000374619.1	-	1	536_537	c.27_28insTG	c.(25-30)gaaggcfs	p.G10fs	HTR1D_ENST00000314113.3_Frame_Shift_Ins_p.G10fs	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	10					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGGGGAAGGCCTTCTGCTGACT	0.574													False	0	False	1:23520685	0	CA	23520686	-	CA	23520685	7	5	88	1	0	1	1	0	0	0	0	0	7488	681	24	0	1109	0	HTR1D	1	23520685	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	978	23520685	225729936	297	8009	141	2									
HTR1D	3352	broad.mit.edu	37	chr1	23520686	23520687	+	Frame_Shift_Ins	INS	-	-	CAGCA													aggcctcctggggaaggcctINStctgctgactggttcagtgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23520686_23520687insCAGCA	ENST00000374619.1	-	1	535_536	c.26_27insTGCTG	c.(25-27)gaafs	p.E9fs	HTR1D_ENST00000314113.3_Frame_Shift_Ins_p.E9fs	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	9					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGGGAAGGCCTTCTGCTGACTG	0.574													False	0	False	1:23520686	0	CAGCA	23520687	-	CAGCA	23520686	7	5	88	1	0	1	1	0	0	0	0	0	7488	1606	56	0	1110	0	HTR1D	1	23520686	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1	23520686	225729935	298	8010	141	2									
HNRNPR	10236	broad.mit.edu	37	chr1	23650226	23650226	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtattttgcctacaaatacCtgaaataaaacccccttatt	4	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23650226C>A	ENST00000478691.1	-	5	467		c.e5-1		HNRNPR_ENST00000374612.1_Splice_Site|HNRNPR_ENST00000427764.2_Splice_Site|HNRNPR_ENST00000374616.3_Splice_Site|HNRNPR_ENST00000606561.1_Splice_Site|HNRNPR_ENST00000302271.6_Splice_Site|HNRNPR_ENST00000426846.2_Intron	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R							catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTACAAATACCTGAAATAAAA	0.398													False	0	False	1:23650226	0	A	23650226	C	A	23650226	5	1	88	1	0	0	0	0	0	0	1	0	7319	695	24	3	1436	3	HNRNPR	1	23650226	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129540	23650226	225600395	299	8011											
ASAP3	55616	broad.mit.edu	37	chr1	23758362	23758362	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggctggactgcccaggctCtcaggggtctcaggggcctc	16	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23758362C>T	ENST00000336689.3	-	23	2417	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E	ASAP3_ENST00000437606.2_Silent_p.E782E|ASAP3_ENST00000495646.1_Silent_p.E295E	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	791					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGCCCAGGCTCTCAGGGGTCT	0.552													False	0	False	1:23758362	0	T	23758362	C	T	23758362	2	4	88	1	0	0	0	0	0	0	0	1	1016	912	32	2		2	ASAP3	1	23758362	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108136	23758362	225492259	300	8012											
ASAP3	55616	broad.mit.edu	37	chr1	23760792	23760792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcagcagcttgaggcagtCgggctggttgtagagtgctg	17	8	0	2	rs113419927		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23760792C>T	ENST00000336689.3	-	19	1950	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N	ASAP3_ENST00000437606.2_Missense_Mutation_p.D627N|ASAP3_ENST00000495646.1_Missense_Mutation_p.D140N	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	636					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TTGAGGCAGTCGGGCTGGTTG	0.582													False	0	True	1:23760792	0	T	23760792	C	T	23760792	3	4	88	1	0	0	0	0	1	0	0	0	1016	884	31	1	833	1	ASAP3	1	23760792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2430	23760792	225489829	301	8013											
TCEB3	6924	broad.mit.edu	37	chr1	24076437	24076437	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagctggttcctgtggaaCggtaagaacatttctcttta	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24076437C>T	ENST00000418390.2	+	3	587	c.316C>T	c.(316-318)Cga>Tga	p.R106*	TCEB3_ENST00000487554.1_3'UTR|TCEB3_ENST00000609199.1_Splice_Site_p.R80*	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	106					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TCCTGTGGAACGGTAAGAACA	0.393													False	0	False	1:24076437	0	T	24076437	C	T	24076437	5	4	88	1	0	0	0	0	0	0	1	0	15763	550	19	1	326	1	TCEB3	1	24076437	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315645	24076437	225174184	302	8014											
MYOM3	127294	broad.mit.edu	37	chr1	24383922	24383922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggtgacctggcccgtctCggagccatacttgttcttga	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24383922C>T	ENST00000330966.7	-	37	4417	c.4255G>A	c.(4255-4257)Gag>Aag	p.E1419K	MYOM3_ENST00000338909.5_Missense_Mutation_p.E309K|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1416K|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1416	Ig-like C2-type 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGCCCGTCTCGGAGCCATAC	0.567													False	0	False	1:24383922	0	T	24383922	C	T	24383922	3	4	88	1	0	0	0	0	1	0	0	0	10160	893	31	1	71	1	MYOM3	1	24383922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	307485	24383922	224866699	303	8015											
MYOM3	127294	broad.mit.edu	37	chr1	24406591	24406591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaactgacgtgatagcctGtgacaggcccagcccccata	11	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24406591G>A	ENST00000330966.7	-	20	2666	c.2504C>T	c.(2503-2505)aCa>aTa	p.T835I	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.T834I|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.T834I			Q5VTT5	MYOM3_HUMAN	myomesin 3	834	Fibronectin type-III 5.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTGATAGCCTGTGACAGGCCC	0.627													False	0	False	1:24406591	0	A	24406591	G	A	24406591	3	1	88	1	0	0	0	0	1	0	0	0	10160	1377	48	2	1884	2	MYOM3	1	24406591	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22669	24406591	224844030	304	8016											
MYOM3	127294	broad.mit.edu	37	chr1	24419480	24419480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcccggggtccgaagggCgagggcacccggaccatgta	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24419480C>T	ENST00000330966.7	-	10	1212	c.1050G>A	c.(1048-1050)tcG>tcA	p.S350S	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.S349S|MYOM3_ENST00000329601.7_Silent_p.S349S			Q5VTT5	MYOM3_HUMAN	myomesin 3	349	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTCCGAAGGGCGAGGGCACCC	0.647													False	0	True	1:24419480	0	T	24419480	C	T	24419480	2	4	88	1	0	0	0	0	0	0	0	1	10160	755	27	1		1	MYOM3	1	24419480	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12889	24419480	224831141	305	8017											
GRHL3	57822	broad.mit.edu	37	chr1	24663190	24663190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggccggctctgtggacaGctacctgttacccaccactg	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24663190G>A	ENST00000361548.4	+	4	715	c.485G>A	c.(484-486)aGc>aAc	p.S162N	GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000236255.4_Missense_Mutation_p.S167N|GRHL3_ENST00000350501.5_Missense_Mutation_p.S162N|GRHL3_ENST00000342072.4_Missense_Mutation_p.S69N|GRHL3_ENST00000356046.2_Missense_Mutation_p.S116N	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	162					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TCTGTGGACAGCTACCTGTTA	0.597													False	0	False	1:24663190	0	A	24663190	G	A	24663190	3	1	88	1	0	0	0	0	1	0	0	0	6812	971	34	2	535	2	GRHL3	1	24663190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243710	24663190	224587431	306	8018											
NIPAL3	57185	broad.mit.edu	37	chr1	24782746	24782746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgtgcatggtggcaacCgccgtctatcaggctgcgtg	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24782746C>T	ENST00000003912.3	+	9	1225	c.510C>T	c.(508-510)acC>acT	p.T170T	NIPAL3_ENST00000339255.2_Silent_p.T252T|NIPAL3_ENST00000374399.4_Silent_p.T252T			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	252						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TGGTGGCAACCGCCGTCTATC	0.552													False	0	False	1:24782746	0	T	24782746	C	T	24782746	2	4	88	1	0	0	0	0	0	0	0	1	10494	639	23	1		1	NIPAL3	1	24782746	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119556	24782746	224467875	307	8019											
SRRM1	10250	broad.mit.edu	37	chr1	24993313	24993313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcttggtttagtggtagaCggaggagaagtccatcccca	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24993313C>T	ENST00000323848.9	+	13	1951	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	SRRM1_ENST00000447431.2_Missense_Mutation_p.R558W|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R555W	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	546	Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TAGTGGTAGACGGAGGAGAAG	0.547													False	0	False	1:24993313	0	T	24993313	C	T	24993313	3	4	88	1	0	0	0	0	1	0	0	0	15250	527	19	1	1686	1	SRRM1	1	24993313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210567	24993313	224257308	308	8020											
SRRM1	10250	broad.mit.edu	37	chr1	24996768	24996768	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccagctgtaccggtcaaaAaggccaaaagcccaacaccg	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24996768A>C	ENST00000323848.9	+	15	2677	c.2362A>C	c.(2362-2364)Aag>Cag	p.K788Q	SRRM1_ENST00000447431.2_Missense_Mutation_p.K800Q|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.K797Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	788	Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ACCGGTCAAAAAGGCCAAAAG	0.517													False	0	True	1:24996768	0	C	24996768	A	C	24996768	3	2	88	1	0	0	0	0	1	0	0	0	15250	15	1	4	2420	4	SRRM1	1	24996768	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3455	24996768	224253853	309	8021											
SRRM1	10250	broad.mit.edu	37	chr1	24997983	24997983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacacaagaaggaaaaggCtgtggctgcagctgctgcag	13	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24997983C>T	ENST00000323848.9	+	16	2822	c.2507C>T	c.(2506-2508)gCt>gTt	p.A836V	SRRM1_ENST00000447431.2_Missense_Mutation_p.A848V|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.A845V	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	836	Ala-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		aagGAAAAGgctgtggctgca	0.498													False	0	False	1:24997983	0	T	24997983	C	T	24997983	3	4	88	1	0	0	0	0	1	0	0	0	15250	797	28	2	2569	2	SRRM1	1	24997983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1215	24997983	224252638	310	8022											
RUNX3	864	broad.mit.edu	37	chr1	25229078	25229078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctggggtctgggaagcgGctctccgtgagggttggcag	18	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25229078G>A	ENST00000399916.1	-	6	1263	c.825C>T	c.(823-825)agC>agT	p.S275S	RUNX3_ENST00000308873.6_Silent_p.S261S|RUNX3_ENST00000540420.1_Silent_p.S168S|RUNX3_ENST00000338888.3_Silent_p.S275S|RUNX3_ENST00000496967.1_5'UTR	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	261	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CTGGGAAGCGGCTCTCCGTGA	0.657													False	0	False	1:25229078	0	A	25229078	G	A	25229078	2	1	88	1	0	0	0	0	0	0	0	1	13828	1194	42	2		2	RUNX3	1	25229078	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	231095	25229078	224021543	311	8023											
RUNX3	864	broad.mit.edu	37	chr1	25291031	25291031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtcggcgagtaggtcGggaaggagtcgaagatgctg	19	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25291031G>A	ENST00000399916.1	-	1	470	c.32C>T	c.(31-33)cCg>cTg	p.P11L	RUNX3_ENST00000338888.3_Missense_Mutation_p.P11L	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	256					cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CGAGTAGGTCGGGAAGGAGTC	0.617													False	0	True	1:25291031	0	A	25291031	G	A	25291031	3	1	88	1	0	0	0	0	1	0	0	0	13828	1116	39	1	1297	1	RUNX3	1	25291031	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61953	25291031	223959590	312	8024											
SYF2	25949	broad.mit.edu	37	chr1	25549848	25549848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttgttgaatttggcattcCtttcattaatgtagtcgata	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25549848C>A	ENST00000236273.4	-	7	666	c.641G>T	c.(640-642)aGg>aTg	p.R214M	SYF2_ENST00000354361.3_Missense_Mutation_p.R172M	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	214						catalytic step 2 spliceosome				kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TTTGGCATTCCTTTCATTAAT	0.353													False	0	True	1:25549848	0	A	25549848	C	A	25549848	3	1	88	1	0	0	0	0	1	0	0	0	15519	681	24	3	94	3	SYF2	1	25549848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	258817	25549848	223700773	313	8025											
RHD	6007	broad.mit.edu	37	chr1	25599174	25599174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatcaaaaggggctcgtgGcatcctatcaaggtgagagt	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25599174G>A	ENST00000328664.4	+	1	291	c.136G>A	c.(136-138)Gca>Aca	p.A46T	RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Missense_Mutation_p.A46T|RHD_ENST00000423810.2_Missense_Mutation_p.A46T|RHD_ENST00000454452.2_Missense_Mutation_p.A46T|RHD_ENST00000568195.1_Missense_Mutation_p.A46T|RHD_ENST00000357542.4_Missense_Mutation_p.A46T|RHD_ENST00000342055.5_Missense_Mutation_p.A46T	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	46						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGGCTCGTGGCATCCTATCA	0.537													False	0	False	1:25599174	0	A	25599174	G	A	25599174	3	1	88	1	0	0	0	0	1	0	0	0	13406	1203	42	2	138	2	RHD	1	25599174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49326	25599174	223651447	314	8026											
RHD	6007	broad.mit.edu	37	chr1	25628130	25628130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagcagtcagcgtggtgacaGccatctcagggtcatccttg	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25628130G>T	ENST00000328664.4	+	5	909	c.754G>T	c.(754-756)Gcc>Tcc	p.A252S	RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Missense_Mutation_p.A252S|RHD_ENST00000423810.2_Missense_Mutation_p.A252S|RHD_ENST00000454452.2_Missense_Mutation_p.A252S|RHD_ENST00000568195.1_Missense_Mutation_p.A252S|RHD_ENST00000357542.4_Missense_Mutation_p.A252S|RHD_ENST00000342055.5_Missense_Mutation_p.A252S	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	252						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGTGGTGACAGCCATCTCAGG	0.547													False	0	False	1:25628130	0	T	25628130	G	T	25628130	3	4	88	1	0	0	0	0	1	0	0	0	13406	971	34	3	772	3	RHD	1	25628130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28956	25628130	223622491	315	8027											
RHD	6007	broad.mit.edu	37	chr1	25655516	25655516	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacgctcatgacagcaaagtCtccaatgttcgcgcaggcac	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25655516C>T	ENST00000342055.5	+	9	1371	c.1371C>T	c.(1369-1371)gtC>gtT	p.V457V	RHD_ENST00000417538.2_3'UTR|RHD_ENST00000423810.2_3'UTR|RHD_ENST00000454452.2_3'UTR|RHD_ENST00000568195.1_Silent_p.V427V|RHD_ENST00000328664.4_3'UTR|RHD_ENST00000357542.4_3'UTR	NM_001282871.1	NP_001269800.1	Q02161	RHD_HUMAN	Rh blood group, D antigen	0						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACAGCAAAGTCTCCAATGTTC	0.438													False	0	False	1:25655516	0	T	25655516	C	T	25655516	2	4	88	1	0	0	0	0	0	0	0	1	13406	928	32	2		2	RHD	1	25655516	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27386	25655516	223595105	316	8028											
RHCE	6006	broad.mit.edu	37	chr1	25701914	25701914	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaggaggacctggaagCcaatcctagaaatgacaaag	12	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25701914C>T	ENST00000425135.1	-	6	892	c.807G>A	c.(805-807)tgG>tgA	p.W269*	RHCE_ENST00000294413.7_Missense_Mutation_p.G360D|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000243186.6_Intron|RHCE_ENST00000349438.4_Nonsense_Mutation_p.W315*|RHCE_ENST00000374352.2_Missense_Mutation_p.G344D|RHCE_ENST00000455194.1_Missense_Mutation_p.G255D|RHCE_ENST00000413854.1_Intron|RHCE_ENST00000346452.4_Missense_Mutation_p.G209D|RHCE_ENST00000349320.3_Missense_Mutation_p.G344D			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	269						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGGAAGCCAATCCTAGA	0.537													False	0	False	1:25701914	0	T	25701914	C	T	25701914	4	4	88	1	0	0	0	0	0	1	0	0	13404	740	26	2	186	2	RHCE	1	25701914	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46398	25701914	223548707	317	8029											
TMEM57	55219	broad.mit.edu	37	chr1	25784913	25784913	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacctgatatggattcttcGatccttatacaccacaatgg	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25784913G>A	ENST00000374343.4	+	6	863	c.684G>A	c.(682-684)tcG>tcA	p.S228S	TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	228						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGGATTCTTCGATCCTTATAC	0.403													False	0	False	1:25784913	0	A	25784913	G	A	25784913	2	1	88	1	0	0	0	0	0	0	0	1	16266	1045	37	1		1	TMEM57	1	25784913	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82999	25784913	223465708	318	8030											
TMEM57	55219	broad.mit.edu	37	chr1	25815742	25815742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctcacgatggacatgaaGgtgaaagaagaccaaatcag	11	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25815742G>A	ENST00000374343.4	+	9	1754	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	TMEM57_ENST00000399766.3_Silent_p.K298K|TMEM57_ENST00000399763.3_Silent_p.K167K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	525						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACATGAAGGTGAAAGAAG	0.423													False	0	False	1:25815742	0	A	25815742	G	A	25815742	2	1	88	1	0	0	0	0	0	0	0	1	16266	991	35	2		2	TMEM57	1	25815742	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30829	25815742	223434879	319	8031											
TMEM57	55219	broad.mit.edu	37	chr1	25818054	25818054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcactgggcgatgcaaagCggcagctcgagattgcccaa	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25818054C>T	ENST00000374343.4	+	10	1950	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	TMEM57_ENST00000399766.3_Missense_Mutation_p.R364W|TMEM57_ENST00000399763.3_Missense_Mutation_p.R233W	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	591						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		p.R591W(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CGATGCAAAGCGGCAGCTCGA	0.567													False	0	False	1:25818054	0	T	25818054	C	T	25818054	3	4	88	1	0	0	0	0	1	0	0	0	16266	759	27	1	1809	1	TMEM57	1	25818054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2312	25818054	223432567	320	8032											
LDLRAP1	26119	broad.mit.edu	37	chr1	25880492	25880492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagtacctgggcatgacGctagtggagcagcccaaggg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25880492G>A	ENST00000374338.4	+	2	287	c.168G>A	c.(166-168)acG>acA	p.T56T	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	56	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCATGACGCTAGTGGAGC	0.637													False	0	False	1:25880492	0	A	25880492	G	A	25880492	2	1	88	1	0	0	0	0	0	0	0	1	8759	1074	38	1		1	LDLRAP1	1	25880492	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62438	25880492	223370129	321	8033											
LDLRAP1	26119	broad.mit.edu	37	chr1	25893459	25893459	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgacagcagcggcacagaGcaggatgacctcttcagctt	11	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25893459G>T	ENST00000374338.4	+	9	1022	c.903G>T	c.(901-903)gaG>gaT	p.E301D	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	301					amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGCACAGAGCAGGATGACC	0.647													False	0	False	1:25893459	0	T	25893459	G	T	25893459	3	4	88	1	0	0	0	0	1	0	0	0	8759	962	34	3	937	3	LDLRAP1	1	25893459	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12967	25893459	223357162	322	8034											
MAN1C1	57134	broad.mit.edu	37	chr1	25944734	25944734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgacttcaacgcattccGgagccgtctccgccacccgg	9	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25944734G>A	ENST00000374332.4	+	1	776	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	149					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AACGCATTCCGGAGCCGTCTC	0.682													False	0	False	1:25944734	0	A	25944734	G	A	25944734	3	1	88	1	0	0	0	0	1	0	0	0	9280	1116	39	1	448	1	MAN1C1	1	25944734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51275	25944734	223305887	323	8035											
PAQR7	164091	broad.mit.edu	37	chr1	26189357	26189357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgcagtgaggatgctgCtgcccaccgtgagcaggaag	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26189357C>T	ENST00000374296.3	-	2	1640	c.974G>A	c.(973-975)aGc>aAc	p.S325N	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	325					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGATGCTGCTGCCCACCGT	0.577													False	0	True	1:26189357	0	T	26189357	C	T	26189357	3	4	88	1	0	0	0	0	1	0	0	0	11508	797	28	2	70	2	PAQR7	1	26189357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244623	26189357	223061264	324	8036											
STMN1	3925	broad.mit.edu	37	chr1	26230290	26230290	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaggcacgcttctccagttCtttcacctggatatctagaa	8	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26230290C>A	ENST00000399728.1	-	3	391	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	STMN1_ENST00000455785.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000374291.1_Nonsense_Mutation_p.E10*|STMN1_ENST00000426559.2_Nonsense_Mutation_p.E10*|STMN1_ENST00000357865.2_Nonsense_Mutation_p.E10*	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	10					cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCCAGTTCTTTCACCTGG	0.393													False	0	True	1:26230290	0	A	26230290	C	A	26230290	4	1	88	1	0	0	0	0	0	1	0	0	15390	922	32	3	584	3	STMN1	1	26230290	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40933	26230290	223020331	325	8037											
PAFAH2	5051	broad.mit.edu	37	chr1	26301000	26301000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatcctagactgttcatgCtgggcacatatcttcttcat	7	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26301000C>T	ENST00000374282.3	-	9	1079	c.900G>A	c.(898-900)caG>caA	p.Q300Q	PAFAH2_ENST00000374284.1_Silent_p.Q300Q	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	300					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGTTCATGCTGGGCACATA	0.468													False	0	False	1:26301000	0	T	26301000	C	T	26301000	2	4	88	1	0	0	0	0	0	0	0	1	11455	796	28	2		2	PAFAH2	1	26301000	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70710	26301000	222949621	326	8038											
PAFAH2	5051	broad.mit.edu	37	chr1	26301077	26301077	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgataaagaacacaggtcCtcgggccttggggtaaaagt	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26301077C>A	ENST00000374282.3	-	9	1002	c.823G>T	c.(823-825)Gga>Tga	p.G275*	PAFAH2_ENST00000374284.1_Nonsense_Mutation_p.G275*	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	275					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		AACACAGGTCCTCGGGCCTTG	0.468													False	0	False	1:26301077	0	A	26301077	C	A	26301077	4	1	88	1	0	0	0	0	0	1	0	0	11455	690	24	3	367	3	PAFAH2	1	26301077	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	26301077	222949544	327	8039											
PAFAH2	5051	broad.mit.edu	37	chr1	26308959	26308959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtaaacactcgcttacccGctgatgcacctgcaacagag	8	15	0	2	rs148012714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26308959G>A	ENST00000374282.3	-	7	741	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	PAFAH2_ENST00000493892.1_5'UTR|PAFAH2_ENST00000374284.1_Missense_Mutation_p.R188W	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	188					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTTACCCGCTGATGCACC	0.527													False	0	True	1:26308959	0	A	26308959	G	A	26308959	3	1	88	1	0	0	0	0	1	0	0	0	11455	1086	38	1	636	1	PAFAH2	1	26308959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7882	26308959	222941662	328	8040											
EXTL1	2134	broad.mit.edu	37	chr1	26349754	26349754	+	Missense_Mutation	SNP	C	C	T													ttttctccctgaagcccaccCgttgcgaggtggggctcctg					rs150568245	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26349754C>T	ENST00000374280.3	+	1	1484	c.617C>T	c.(616-618)cCg>cTg	p.P206L	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	206					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCCCACCCGTTGCGAGGT	0.682													False	0	True	1:26349754	0	T	26349754	C	T	26349754	3	4	88	1	0	0	0	0	1	0	0	0	5358	652	23	1	619	1	EXTL1	1	26349754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40795	26349754	222900867	329	8041	142	2									
EXTL1	2134	broad.mit.edu	37	chr1	26349755	26349755	+	Silent	SNP	G	G	A													tttctccctgaagcccacccGttgcgaggtggggctcctgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26349755G>A	ENST00000374280.3	+	1	1485	c.618G>A	c.(616-618)ccG>ccA	p.P206P	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	206					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCCCACCCGTTGCGAGGTG	0.687													False	0	True	1:26349755	0	A	26349755	G	A	26349755	2	1	88	1	0	0	0	0	0	0	0	1	5358	1132	40	1		1	EXTL1	1	26349755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	26349755	222900866	330	8042	142	2									
EXTL1	2134	broad.mit.edu	37	chr1	26361822	26361822	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcaagaagtaccgcaGcctggagaagccctaggggg	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26361822G>T	ENST00000374280.3	+	11	2882	c.2015G>T	c.(2014-2016)aGc>aTc	p.S672I		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	672					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTACCGCAGCCTGGAGAAG	0.711													False	0	False	1:26361822	0	T	26361822	G	T	26361822	3	4	88	1	0	0	0	0	1	0	0	0	5358	971	34	3	2057	3	EXTL1	1	26361822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12067	26361822	222888799	331	8043											
TRIM63	84676	broad.mit.edu	37	chr1	26380400	26380400	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttcttccttcccttcTgtggactcttcctcttcctg	4	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26380400T>G	ENST00000374272.3	-	8	1173	c.1035A>C	c.(1033-1035)acA>acC	p.T345T		NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	345						cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCCCTTCTGTGGACTCTT	0.428													False	0	False	1:26380400	0	G	26380400	T	G	26380400	2	3	88	1	0	0	0	0	0	0	0	1	16621	1567	55	4		4	TRIM63	1	26380400	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18578	26380400	222870221	332	8044											
CNKSR1	10256	broad.mit.edu	37	chr1	26510587	26510587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcaggtcctggactcccCgcaccagaggagcccatcac	9	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26510587C>T	ENST00000531191.1	+	9	1114	c.107C>T	c.(106-108)cCg>cTg	p.P36L	CNKSR1_ENST00000374253.5_Missense_Mutation_p.P301L|CNKSR1_ENST00000361530.6_Missense_Mutation_p.P294L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	301	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGACTCCCCGCACCAGAGG	0.617													False	0	True	1:26510587	0	T	26510587	C	T	26510587	3	4	88	1	0	0	0	0	1	0	0	0	3629	652	23	1	919	1	CNKSR1	1	26510587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130187	26510587	222740034	333	8045											
CNKSR1	10256	broad.mit.edu	37	chr1	26511616	26511616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcggcttcatgggcccgcGctggcgccgccgctggtttg	18	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26511616G>A	ENST00000531191.1	+	13	1480	c.473G>A	c.(472-474)cGc>cAc	p.R158H	CNKSR1_ENST00000374253.5_Missense_Mutation_p.R423H|CNKSR1_ENST00000361530.6_Missense_Mutation_p.R416H			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	423	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGGCCCGCGCTGGCGCCGC	0.667													False	0	False	1:26511616	0	A	26511616	G	A	26511616	3	1	88	1	0	0	0	0	1	0	0	0	3629	1087	38	1	1301	1	CNKSR1	1	26511616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1029	26511616	222739005	334	8046											
CATSPER4	378807	broad.mit.edu	37	chr1	26524884	26524884	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgcatcacccaggacggCtgggtggacatctacagtga	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26524884C>A	ENST00000456354.2	+	6	853	c.786C>A	c.(784-786)ggC>ggA	p.G262G		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	262					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGGACGGCTGGGTGGACA	0.562													False	0	False	1:26524884	0	A	26524884	C	A	26524884	2	1	88	1	0	0	0	0	0	0	0	1	2710	784	28	3		3	CATSPER4	1	26524884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13268	26524884	222725737	335	8047											
SH3BGRL3	83442	broad.mit.edu	37	chr1	26607289	26607289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcgaggtgacccgaatcCtggatgggaagcgcatccaa	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26607289C>A	ENST00000270792.5	+	2	1062	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.L28M	NM_031286.3	NP_112576.1	Q9H299	SH3L3_HUMAN	SH3 domain binding glutamic acid-rich protein like 3	28	Glutaredoxin.				cell redox homeostasis	cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity						all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCGAATCCTGGATGGGAA	0.597													False	0	False	1:26607289	0	A	26607289	C	A	26607289	3	1	88	1	0	0	0	0	1	0	0	0	14324	680	24	3	88	3	SH3BGRL3	1	26607289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82405	26607289	222643332	336	8048											
CD52	1043	broad.mit.edu	37	chr1	26646758	26646758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattttccttttcttcgtgGccaatgccataatccacctc	5	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26646758G>A	ENST00000374213.2	+	2	212	c.151G>A	c.(151-153)Gcc>Acc	p.A51T		NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	51					elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction				large_intestine(1)	1		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	TTTCTTCGTGGCCAATGCCAT	0.522													False	0	False	1:26646758	0	A	26646758	G	A	26646758	3	1	88	1	0	0	0	0	1	0	0	0	3045	1203	42	2	157	2	CD52	1	26646758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39469	26646758	222603863	337	8049											
ZNF683	257101	broad.mit.edu	37	chr1	26694242	26694242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagctggcacaggatgggCcatgagcatccaccatgtct	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26694242C>T	ENST00000436292.1	-	3	281	c.161G>A	c.(160-162)gGc>gAc	p.G54D	ZNF683_ENST00000349618.3_Missense_Mutation_p.G54D|ZNF683_ENST00000374204.1_Missense_Mutation_p.G54D|ZNF683_ENST00000403843.1_Missense_Mutation_p.G54D			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ACAGGATGGGCCATGAGCATC	0.652													False	0	True	1:26694242	0	T	26694242	C	T	26694242	3	4	88	1	0	0	0	0	1	0	0	0	18173	739	26	2	1369	2	ZNF683	1	26694242	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47484	26694242	222556379	338	8050											
DHDDS	79947	broad.mit.edu	37	chr1	26769270	26769270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctagaggtgacagtctacGcattcagcattgagaacttc	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26769270G>A	ENST00000360009.2	+	4	306	c.229G>A	c.(229-231)Gca>Aca	p.A77T	DHDDS_ENST00000526219.1_Missense_Mutation_p.A77T|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000427245.2_Missense_Mutation_p.A77T|DHDDS_ENST00000525682.2_Missense_Mutation_p.A77T|DHDDS_ENST00000374185.3_Missense_Mutation_p.A77T|DHDDS_ENST00000236342.7_Missense_Mutation_p.A77T	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	77							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GACAGTCTACGCATTCAGCAT	0.522													False	0	False	1:26769270	0	A	26769270	G	A	26769270	3	1	88	1	0	0	0	0	1	0	0	0	4508	1087	38	1	239	1	DHDDS	1	26769270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75028	26769270	222481351	339	8051											
ARID1A	8289	broad.mit.edu	37	chr1	27059196	27059196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagattcatttgggtctcaGgcatcctcagccccctcaat	7	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27059196G>T	ENST00000324856.7	+	4	2204	c.1833G>T	c.(1831-1833)caG>caT	p.Q611H	ARID1A_ENST00000457599.2_Missense_Mutation_p.Q611H|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q228H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	611					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGGGTCTCAGGCATCCTCAG	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								False	0	False	1:27059196	0	T	27059196	G	T	27059196	3	4	88	1	0	0	0	0	1	0	0	0	915	991	35	3	1847	3	ARID1A	1	27059196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	289926	27059196	222191425	340	8052											
ARID1A	8289	broad.mit.edu	37	chr1	27092737	27092737	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggctaccccaatatgaatCaagggggcatgatgggaact	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27092737C>T	ENST00000324856.7	+	9	3129	c.2758C>T	c.(2758-2760)Caa>Taa	p.Q920*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q920*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q537*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	920					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAATATGAATCAAGGGGGCAT	0.483			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								False	0	False	1:27092737	0	T	27092737	C	T	27092737	4	4	88	1	0	0	0	0	0	1	0	0	915	827	29	2	2792	2	ARID1A	1	27092737	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33541	27092737	222157884	341	8053											
ARID1A	8289	broad.mit.edu	37	chr1	27101019	27101019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacaaccagtatggcaatgCctatcctgccactgccacag	7	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27101019C>T	ENST00000324856.7	+	18	4672	c.4301C>T	c.(4300-4302)gCc>gTc	p.A1434V	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1051V|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1434					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGGCAATGCCTATCCTGCC	0.617			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								False	0	False	1:27101019	0	T	27101019	C	T	27101019	3	4	88	1	0	0	0	0	1	0	0	0	915	739	26	2	4371	2	ARID1A	1	27101019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8282	27101019	222149602	342	8054											
ARID1A	8289	broad.mit.edu	37	chr1	27105787	27105787	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggacaagccagcttcagagAatagtgaggagaagctgatc	13	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27105787A>T	ENST00000324856.7	+	20	5769	c.5398A>T	c.(5398-5400)Aat>Tat	p.N1800Y	ARID1A_ENST00000457599.2_Missense_Mutation_p.N1583Y|ARID1A_ENST00000374152.2_Missense_Mutation_p.N1417Y|ARID1A_ENST00000540690.1_Missense_Mutation_p.N128Y	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1800					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCTTCAGAGAATAGTGAGGA	0.433			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								False	0	False	1:27105787	0	T	27105787	A	T	27105787	3	4	88	1	0	0	0	0	1	0	0	0	915	246	9	5	5476	5	ARID1A	1	27105787	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4768	27105787	222144834	343	8055											
FAM46B	115572	broad.mit.edu	37	chr1	27333276	27333276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagtaggcaggccagcaccActgccttggtcagctggaag	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27333276A>G	ENST00000289166.5	-	2	602	c.437T>C	c.(436-438)gTg>gCg	p.V146A		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	146										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCAGCACCACTGCCTTGGT	0.617													False	0	False	1:27333276	0	G	27333276	A	G	27333276	3	3	88	1	0	0	0	0	1	0	0	0	5606	159	6	4	844	4	FAM46B	1	27333276	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	227489	27333276	221917345	344	8056											
SLC9A1	6548	broad.mit.edu	37	chr1	27427125	27427125	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtcctccttcggctcataGgccagtgggtctggggacca	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27427125G>T	ENST00000263980.3	-	12	2696	c.2121C>A	c.(2119-2121)gcC>gcA	p.A707A	SLC9A1_ENST00000545949.1_Silent_p.A368A	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	707					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TCGGCTCATAGGCCAGTGGGT	0.642													False	0	False	1:27427125	0	T	27427125	G	T	27427125	2	4	88	1	0	0	0	0	0	0	0	1	14789	987	35	3		3	SLC9A1	1	27427125	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93849	27427125	221823496	345	8057											
SLC9A1	6548	broad.mit.edu	37	chr1	27429187	27429187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttccagtggtggtgaccGtagtggccacagatgtcttc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27429187G>A	ENST00000263980.3	-	7	2198	c.1623C>T	c.(1621-1623)taC>taT	p.Y541Y	SLC9A1_ENST00000545949.1_Silent_p.Y202Y	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	541					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGTGGTGACCGTAGTGGCCAC	0.647											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:27429187	0	A	27429187	G	A	27429187	2	1	88	1	0	0	0	0	0	0	0	1	14789	1140	40	1		1	SLC9A1	1	27429187	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2062	27429187	221821434	346	8058											
WDTC1	23038	broad.mit.edu	37	chr1	27632740	27632740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacaggccaaccagcggCgcatgaatgcagacccgttg	11	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27632740C>T	ENST00000319394.3	+	16	2435	c.1900C>T	c.(1900-1902)Cgc>Tgc	p.R634C	WDTC1_ENST00000361771.3_Missense_Mutation_p.R633C	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	634							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAACCAGCGGCGCATGAATGC	0.612													False	0	False	1:27632740	0	T	27632740	C	T	27632740	3	4	88	1	0	0	0	0	1	0	0	0	17426	768	27	1	1955	1	WDTC1	1	27632740	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203553	27632740	221617881	347	8059											
SYTL1	84958	broad.mit.edu	37	chr1	27677325	27677325	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttcagggccgcgtgctgaGcctgtctgtgtggcaccgcg	16	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27677325G>T	ENST00000543823.1	+	10	1508	c.1046G>T	c.(1045-1047)aGc>aTc	p.S349I	SYTL1_ENST00000318074.5_Missense_Mutation_p.S337I|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	349	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGCGTGCTGAGCCTGTCTGTG	0.647													False	0	False	1:27677325	0	T	27677325	G	T	27677325	3	4	88	1	0	0	0	0	1	0	0	0	15564	971	34	3	1048	3	SYTL1	1	27677325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44585	27677325	221573296	348	8060											
SYTL1	84958	broad.mit.edu	37	chr1	27677441	27677441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctccccctgcagcccCgggtgaggcagccaggccgc	14	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27677441C>T	ENST00000543823.1	+	10	1624	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	SYTL1_ENST00000318074.5_Missense_Mutation_p.R376W|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	388					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGCAGCCCCGGGTGAGGCA	0.692													False	0	True	1:27677441	0	T	27677441	C	T	27677441	3	4	88	1	0	0	0	0	1	0	0	0	15564	643	23	1	1164	1	SYTL1	1	27677441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	27677441	221573180	349	8061											
FCN3	8547	broad.mit.edu	37	chr1	27697117	27697117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgagaacttgcccagtgCcagctggtagtggtctacct	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27697117C>T	ENST00000270879.4	-	7	633	c.628G>A	c.(628-630)Gca>Aca	p.A210T	FCN3_ENST00000354982.2_Missense_Mutation_p.A199T	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	210	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGCCCAGTGCCAGCTGGTAG	0.587													False	0	False	1:27697117	0	T	27697117	C	T	27697117	3	4	88	1	0	0	0	0	1	0	0	0	5833	739	26	2	279	2	FCN3	1	27697117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19676	27697117	221553504	350	8062											
GPR3	2827	broad.mit.edu	37	chr1	27721074	27721074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcttggagcctttgccGcctgctggttgcccttcact	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27721074G>A	ENST00000374024.3	+	2	871	c.772G>A	c.(772-774)Gcc>Acc	p.A258T		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	258					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCTTTGCCGCCTGCTGGTT	0.607													False	0	False	1:27721074	0	A	27721074	G	A	27721074	3	1	88	1	0	0	0	0	1	0	0	0	6732	1087	38	1	774	1	GPR3	1	27721074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23957	27721074	221529547	351	8063											
WASF2	10163	broad.mit.edu	37	chr1	27741358	27741358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttttctttggactccaCaaattcttgccccatcttca	4	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27741358C>T	ENST00000430629.2	-	6	852	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	WASF2_ENST00000536657.1_Missense_Mutation_p.V213M	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	213					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TTGGACTCCACAAATTCTTGC	0.443													False	0	True	1:27741358	0	T	27741358	C	T	27741358	3	4	88	1	0	0	0	0	1	0	0	0	17337	478	17	2	875	2	WASF2	1	27741358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20284	27741358	221509263	352	8064											
AHDC1	27245	broad.mit.edu	37	chr1	27876902	27876902	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatggccatggtggccgcTgccacagtggctgcctcggc	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27876902T>C	ENST00000374011.2	-	6	2693	c.1725A>G	c.(1723-1725)gcA>gcG	p.A575A	AHDC1_ENST00000247087.5_Silent_p.A575A	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	575							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGTGGCCGCTGCCACAGTGG	0.637													False	0	False	1:27876902	0	C	27876902	T	C	27876902	2	2	88	1	0	0	0	0	0	0	0	1	412	1567	55	4		4	AHDC1	1	27876902	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135544	27876902	221373719	353	8065											
AHDC1	27245	broad.mit.edu	37	chr1	27877908	27877908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactaaggatgtcggcgtcaGcaagttctgagtaatcagtg	12	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27877908G>A	ENST00000374011.2	-	6	1687	c.719C>T	c.(718-720)gCt>gTt	p.A240V	AHDC1_ENST00000247087.5_Missense_Mutation_p.A240V	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	240	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCGGCGTCAGCAAGTTCTGA	0.667													False	0	False	1:27877908	0	A	27877908	G	A	27877908	3	1	88	1	0	0	0	0	1	0	0	0	412	971	34	2	4096	2	AHDC1	1	27877908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1006	27877908	221372713	354	8066											
FGR	2268	broad.mit.edu	37	chr1	27939553	27939553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgttccatggcctcgtAcagggatgctgggcagcctg	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27939553A>G	ENST00000374005.3	-	13	1750	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H	FGR_ENST00000399173.1_Missense_Mutation_p.Y488H|FGR_ENST00000374004.1_Missense_Mutation_p.Y488H|FGR_ENST00000545953.1_Missense_Mutation_p.Y422H	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	488	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATGGCCTCGTACAGGGATGCT	0.597													False	0	False	1:27939553	0	G	27939553	A	G	27939553	3	3	88	1	0	0	0	0	1	0	0	0	5914	391	14	4	131	4	FGR	1	27939553	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61645	27939553	221311068	355	8067											
STX12	23673	broad.mit.edu	37	chr1	28120075	28120075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacactccacaaatcagctcGccaaggaaacaaatgaattg	6	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28120075G>A	ENST00000373943.4	+	3	345	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	74					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		AAATCAGCTCGCCAAGGAAAC	0.388													False	0	False	1:28120075	0	A	28120075	G	A	28120075	3	1	88	1	0	0	0	0	1	0	0	0	15420	1087	38	1	230	1	STX12	1	28120075	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180522	28120075	221130546	356	8068											
RPA2	6118	broad.mit.edu	37	chr1	28218701	28218701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctgtggatttaaaatgGtcatcatccacagtagaata	8	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28218701G>A	ENST00000373912.3	-	9	1085	c.786C>T	c.(784-786)gaC>gaT	p.D262D	RPA2_ENST00000313433.7_Silent_p.D350D|RPA2_ENST00000373909.3_Silent_p.D270D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	262	Asp/Glu-rich (acidic).|Interaction with TIPIN (By similarity).				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTAAAATGGTCATCATCCA	0.403								Direct reversal of damage;Nucleotide excision repair (NER)					False	0	False	1:28218701	0	A	28218701	G	A	28218701	2	1	88	1	0	0	0	0	0	0	0	1	13616	1252	44	2		2	RPA2	1	28218701	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98626	28218701	221031920	357	8069											
XKR8	55113	broad.mit.edu	37	chr1	28293620	28293620	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgctttctccagaggggtAtcagctgcctcagaacaggc	11	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28293620A>G	ENST00000373884.5	+	3	1705	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	366						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CCAGAGGGGTATCAGCTGCCT	0.587													False	0	False	1:28293620	0	G	28293620	A	G	28293620	3	3	88	1	0	0	0	0	1	0	0	0	17521	449	16	4	1107	4	XKR8	1	28293620	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	74919	28293620	220957001	358	8070											
EYA3	2140	broad.mit.edu	37	chr1	28362186	28362187	+	Translation_Start_Site	INS	-	-	CATTCTTTACA													aactgagagaatatgtgcatINSaaggtctggaaaatttcatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28362186_28362187insCATTCTTTACA	ENST00000471498.1	-	0	370_371				EYA3_ENST00000373863.3_Frame_Shift_Ins_p.Y77fs|EYA3_ENST00000545175.1_Frame_Shift_Ins_p.Y24fs|EYA3_ENST00000540618.1_Frame_Shift_Ins_p.Y77fs|EYA3_ENST00000436342.2_De_novo_Start_OutOfFrame|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000373871.3_Frame_Shift_Ins_p.Y77fs			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)						anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AATATGTGCATAAGGTCTGGAA	0.396													False	0	False	1:28362186	0	CATTCTTTACA	28362187	-	CATTCTTTACA	28362186	6	5	88	1	0	1	1	0	0	0	0	0	5363	1406	49	0		0	EYA3	1	28362186	Translation_Start_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	68566	28362186	220888435	359	8071											
SESN2	83667	broad.mit.edu	37	chr1	28601432	28601432	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttccaggcagcctatagcCtcacctacaataccatcgcc	6	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28601432C>A	ENST00000253063.3	+	8	1438	c.1117C>A	c.(1117-1119)Ctc>Atc	p.L373I		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	373					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCTATAGCCTCACCTACAA	0.557													False	0	False	1:28601432	0	A	28601432	C	A	28601432	3	1	88	1	0	0	0	0	1	0	0	0	14206	681	24	3	1147	3	SESN2	1	28601432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239246	28601432	220649189	360	8072											
SESN2	83667	broad.mit.edu	37	chr1	28607282	28607282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagccgctctgctgtacgCcctccgtgccatcacccgct	9	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28607282C>T	ENST00000253063.3	+	10	1733	c.1412C>T	c.(1411-1413)gCc>gTc	p.A471V		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	471					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGTACGCCCTCCGTGCC	0.617													False	0	True	1:28607282	0	T	28607282	C	T	28607282	3	4	88	1	0	0	0	0	1	0	0	0	14206	739	26	2	1450	2	SESN2	1	28607282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5850	28607282	220643339	361	8073											
PHACTR4	65979	broad.mit.edu	37	chr1	28800249	28800249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgggctcggaactactacCaatgatctcacctcgctctc	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28800249C>T	ENST00000373839.3	+	7	1268	c.1007C>T	c.(1006-1008)cCa>cTa	p.P336L	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.P346L	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	336	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	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)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTACTACCAATGATCTCA	0.527													False	0	False	1:28800249	0	T	28800249	C	T	28800249	3	4	88	1	0	0	0	0	1	0	0	0	11881	594	21	2	1079	2	PHACTR4	1	28800249	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192967	28800249	220450372	362	8074											
PHACTR4	65979	broad.mit.edu	37	chr1	28807089	28807089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagtggaatgaaatacGgcaccagattggaaacacac	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28807089G>A	ENST00000373839.3	+	9	1994	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R588Q	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	578							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	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)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AATGAAATACGGCACCAGATT	0.423													False	0	False	1:28807089	0	A	28807089	G	A	28807089	3	1	88	1	0	0	0	0	1	0	0	0	11881	1116	39	1	1813	1	PHACTR4	1	28807089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6840	28807089	220443532	363	8075											
RCC1	1104	broad.mit.edu	37	chr1	28857092	28857092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgccaaggtgcctGcgggccgagccctcctgacc	12	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28857092G>A	ENST00000373831.3	+	3	192	c.131G>A	c.(130-132)tGc>tAc	p.C44Y	RCC1_ENST00000373832.1_Intron|RCC1_ENST00000373833.6_Intron|RCC1_ENST00000398958.2_Intron	NM_001048194.2|NM_001048195.2	NP_001041659.1|NP_001041660.1	P18754	RCC1_HUMAN	regulator of chromosome condensation 1	24					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGTGCCTGCGGGCCGAGC	0.706													False	0	False	1:28857092	0	A	28857092	G	A	28857092	3	1	88	1	0	0	0	0	1	0	0	0	13252	1319	46	2	137	2	RCC1	1	28857092	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50003	28857092	220393529	364	8076											
RCC1	1104	broad.mit.edu	37	chr1	28863294	28863294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccgggctgagtatgggCggctgggccttggagagggt	22	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28863294C>T	ENST00000373833.6	+	12	1258	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	RCC1_ENST00000373832.1_Missense_Mutation_p.R325W|RCC1_ENST00000398958.2_Missense_Mutation_p.R325W|RCC1_ENST00000373831.3_Missense_Mutation_p.R356W			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	325					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGTATGGGCGGCTGGGCCT	0.612													False	0	True	1:28863294	0	T	28863294	C	T	28863294	3	4	88	1	0	0	0	0	1	0	0	0	13252	759	27	1	1100	1	RCC1	1	28863294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6202	28863294	220387327	365	8077											
TRNAU1AP	54952	broad.mit.edu	37	chr1	28891240	28891240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtattccctctttgtggggGacctgaccccggacgtggat	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28891240G>T	ENST00000373830.3	+	5	330	c.304G>T	c.(304-306)Gac>Tac	p.D102Y	TRNAU1AP_ENST00000495995.1_3'UTR	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	102	RRM 2.				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						CTTTGTGGGGGACCTGACCCC	0.512													False	0	True	1:28891240	0	T	28891240	G	T	28891240	3	4	88	1	0	0	0	0	1	0	0	0	16655	1174	41	3	322	3	TRNAU1AP	1	28891240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27946	28891240	220359381	366	8078											
GMEB1	10691	broad.mit.edu	37	chr1	29030754	29030754	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgatgtagggctgatggaaGaggttgtctgcaatatacag	14	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29030754G>A	ENST00000373816.1	+	8	919	c.781G>A	c.(781-783)Gag>Aag	p.E261K	GMEB1_ENST00000361872.4_Missense_Mutation_p.E261K|GMEB1_ENST00000294409.2_Missense_Mutation_p.E271K|GMEB1_ENST00000480454.1_3'UTR	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGATGGAAGAGGTTGTCTG	0.468													False	0	False	1:29030754	0	A	29030754	G	A	29030754	3	1	88	1	0	0	0	0	1	0	0	0	6532	943	33	2	837	2	GMEB1	1	29030754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139514	29030754	220219867	367	8079											
GMEB1	10691	broad.mit.edu	37	chr1	29037105	29037105	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggttttagacaacagAaggaaccaagtagagcaggg	13	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29037105A>C	ENST00000373816.1	+	9	1080	c.942A>C	c.(940-942)agA>agC	p.R314S	GMEB1_ENST00000361872.4_Missense_Mutation_p.R314S|GMEB1_ENST00000294409.2_Missense_Mutation_p.R324S|GMEB1_ENST00000480454.1_3'UTR	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TAGACAACAGAAGGAACCAAG	0.393													False	0	False	1:29037105	0	C	29037105	A	C	29037105	3	2	88	1	0	0	0	0	1	0	0	0	6532	243	9	4	1002	4	GMEB1	1	29037105	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6351	29037105	220213516	368	8080											
OPRD1	4985	broad.mit.edu	37	chr1	29189517	29189517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcgcccatccacatcttcGtcatcgtctggacgctggtg	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29189517G>A	ENST00000234961.2	+	3	1083	c.841G>A	c.(841-843)Gtc>Atc	p.V281I		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	281					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CCACATCTTCGTCATCGTCTG	0.662													False	0	False	1:29189517	0	A	29189517	G	A	29189517	3	1	88	1	0	0	0	0	1	0	0	0	10952	1145	40	1	851	1	OPRD1	1	29189517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152412	29189517	220061104	369	8081											
TMEM200B	399474	broad.mit.edu	37	chr1	29447499	29447499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtccagccgtggccagcttCggtgagcacagtcccgagct	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29447499C>T	ENST00000420504.2	-	2	999	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	TMEM200B_ENST00000521452.1_Missense_Mutation_p.R281Q	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	281						integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TGGCCAGCTTCGGTGAGCACA	0.642													False	0	False	1:29447499	0	T	29447499	C	T	29447499	3	4	88	1	0	0	0	0	1	0	0	0	16206	884	31	1	85	1	TMEM200B	1	29447499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257982	29447499	219803122	370	8082											
PTPRU	10076	broad.mit.edu	37	chr1	29587277	29587277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgggctgaggtgcacGccgtcagcctgcagacctac	14	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29587277G>A	ENST00000356870.3	+	7	1116	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	PTPRU_ENST00000428026.2_Missense_Mutation_p.A336T|PTPRU_ENST00000373779.3_Missense_Mutation_p.A336T|PTPRU_ENST00000460170.2_Missense_Mutation_p.A336T|PTPRU_ENST00000323874.8_Missense_Mutation_p.A336T|PTPRU_ENST00000345512.3_Missense_Mutation_p.A336T	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	336	Fibronectin type-III 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGAGGTGCACGCCGTCAGCCT	0.647													False	0	False	1:29587277	0	A	29587277	G	A	29587277	3	1	88	1	0	0	0	0	1	0	0	0	12892	1087	38	1	1032	1	PTPRU	1	29587277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139778	29587277	219663344	371	8083											
PTPRU	10076	broad.mit.edu	37	chr1	29609239	29609239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcggaggctgcggcgggaGccaggtggacaggactgctt	20	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29609239G>T	ENST00000356870.3	+	12	2030	c.1920G>T	c.(1918-1920)gaG>gaT	p.E640D	PTPRU_ENST00000428026.2_Missense_Mutation_p.E640D|PTPRU_ENST00000373779.3_Missense_Mutation_p.E640D|PTPRU_ENST00000460170.2_Missense_Mutation_p.E640D|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.E640D|PTPRU_ENST00000345512.3_Missense_Mutation_p.E640D	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	640	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCGGCGGGAGCCAGGTGGAC	0.677													False	0	False	1:29609239	0	T	29609239	G	T	29609239	3	4	88	1	0	0	0	0	1	0	0	0	12892	962	34	3	1966	3	PTPRU	1	29609239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21962	29609239	219641382	372	8084											
PTPRU	10076	broad.mit.edu	37	chr1	29610474	29610474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccggctgaattgcatccGcattgccaggaaaggtaagt	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29610474G>A	ENST00000356870.3	+	13	2275	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	PTPRU_ENST00000428026.2_Missense_Mutation_p.R722H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R722H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R722H|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.R722H|PTPRU_ENST00000345512.3_Missense_Mutation_p.R722H	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	722					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AATTGCATCCGCATTGCCAGG	0.627													False	0	False	1:29610474	0	A	29610474	G	A	29610474	3	1	88	1	0	0	0	0	1	0	0	0	12892	1087	38	1	2215	1	PTPRU	1	29610474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1235	29610474	219640147	373	8085											
PTPRU	10076	broad.mit.edu	37	chr1	29638197	29638197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaggactcagacacctacGgggacatcaagattatgctg	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29638197G>A	ENST00000356870.3	+	22	3126	c.3016G>A	c.(3016-3018)Ggg>Agg	p.G1006R	PTPRU_ENST00000428026.2_Missense_Mutation_p.G997R|PTPRU_ENST00000373779.3_Missense_Mutation_p.G1000R|PTPRU_ENST00000460170.2_Missense_Mutation_p.G1006R|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.G1006R|PTPRU_ENST00000345512.3_Missense_Mutation_p.G1010R	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1010	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.G1006W(2)|p.G1010W(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGACACCTACGGGGACATCAA	0.602													False	0	True	1:29638197	0	A	29638197	G	A	29638197	3	1	88	1	0	0	0	0	1	0	0	0	12892	1116	39	1	3136	1	PTPRU	1	29638197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27723	29638197	219612424	374	8086											
MATN1	4146	broad.mit.edu	37	chr1	31189685	31189685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaagccctcgtggcaggCgcaggtgtaggaaccggggg	19	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31189685C>T	ENST00000373765.4	-	4	777	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	MATN1_ENST00000477320.1_5'UTR	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	248	EGF-like.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.A248T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTGGCAGGCGCAGGTGTAG	0.622													False	0	False	1:31189685	0	T	31189685	C	T	31189685	3	4	88	1	0	0	0	0	1	0	0	0	9400	768	27	1	768	1	MATN1	1	31189685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1551488	31189685	218060936	375	8087											
LAPTM5	7805	broad.mit.edu	37	chr1	31208047	31208047	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcatcttggagtttctcttCtcctccaccgagttcatgca	7	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31208047C>A	ENST00000294507.3	-	7	746	c.672G>T	c.(670-672)gaG>gaT	p.E224D		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	224					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTTCTCTTCTCCTCCACCG	0.537													False	0	True	1:31208047	0	A	31208047	C	A	31208047	3	1	88	1	0	0	0	0	1	0	0	0	8677	912	32	3	124	3	LAPTM5	1	31208047	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18362	31208047	218042574	376	8088											
LAPTM5	7805	broad.mit.edu	37	chr1	31211857	31211857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgcagagggtcaggatgCtcaggcagaagtccagcagc	15	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31211857C>A	ENST00000294507.3	-	5	514	c.440G>T	c.(439-441)aGc>aTc	p.S147I		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	147					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCAGGATGCTCAGGCAGAA	0.542													False	0	False	1:31211857	0	A	31211857	C	A	31211857	3	1	88	1	0	0	0	0	1	0	0	0	8677	797	28	3	364	3	LAPTM5	1	31211857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3810	31211857	218038764	377	8089											
LAPTM5	7805	broad.mit.edu	37	chr1	31230535	31230535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggccagggcggtggttgCgatgcggacattgaagcagc	18	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31230535C>T	ENST00000294507.3	-	1	132	c.58G>A	c.(58-60)Gca>Aca	p.A20T	LAPTM5_ENST00000476492.1_5'UTR	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	20					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGTGGTTGCGATGCGGACA	0.627													False	0	False	1:31230535	0	T	31230535	C	T	31230535	3	4	88	1	0	0	0	0	1	0	0	0	8677	768	27	1	762	1	LAPTM5	1	31230535	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18678	31230535	218020086	378	8090											
SDC3	9672	broad.mit.edu	37	chr1	31349524	31349524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggaggtagctgtgctgaCcagcctgggtgttggggcct	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31349524C>T	ENST00000336798.7	-	1	2063	c.571G>A	c.(571-573)Gtc>Atc	p.V191I	SDC3_ENST00000339394.6_Missense_Mutation_p.V249I			O75056	SDC3_HUMAN	syndecan 3	249	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTGCTGACCAGCCTGGGT	0.706													False	0	False	1:31349524	0	T	31349524	C	T	31349524	3	4	88	1	0	0	0	0	1	0	0	0	14034	507	18	2	595	2	SDC3	1	31349524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118989	31349524	217901097	379	8091											
SNRNP40	9410	broad.mit.edu	37	chr1	31766156	31766156	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcatgtccagagagcaGcatgattggggcttgaaggg	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31766156G>A	ENST00000263694.4	-	2	199	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	SNRNP40_ENST00000446633.2_Silent_p.L61L	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	61						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						CCAGAGAGCAGCATGATTGGG	0.478													False	0	False	1:31766156	0	A	31766156	G	A	31766156	2	1	88	1	0	0	0	0	0	0	0	1	14936	962	34	2		2	SNRNP40	1	31766156	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	416632	31766156	217484465	380	8092											
SERINC2	347735	broad.mit.edu	37	chr1	31905859	31905859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacagcctgatgcagacCgaggagtgcccacctatgct	12	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31905859C>T	ENST00000373710.1	+	10	1359	c.1086C>T	c.(1084-1086)acC>acT	p.T362T	SERINC2_ENST00000536859.1_Silent_p.T357T|SERINC2_ENST00000373709.3_Silent_p.T353T|SERINC2_ENST00000536384.1_Silent_p.T357T|SERINC2_ENST00000491976.1_3'UTR	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	353						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGATGCAGACCGAGGAGTGCC	0.612													False	0	False	1:31905859	0	T	31905859	C	T	31905859	2	4	88	1	0	0	0	0	0	0	0	1	14161	639	23	1		1	SERINC2	1	31905859	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139703	31905859	217344762	381	8093											
TINAGL1	64129	broad.mit.edu	37	chr1	32050933	32050933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactcctgtctaccgcctcGgctccaacgtaagtcagcac	7	17	3	0	rs146987687		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32050933G>A	ENST00000271064.7	+	8	1115	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	TINAGL1_ENST00000457433.2_Missense_Mutation_p.G316S|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	347					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTACCGCCTCGGCTCCAACGT	0.602													False	0	False	1:32050933	0	A	32050933	G	A	32050933	3	1	88	1	0	0	0	0	1	0	0	0	16004	1116	39	1	1065	1	TINAGL1	1	32050933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145074	32050933	217199688	382	8094											
HCRTR1	3061	broad.mit.edu	37	chr1	32084938	32084938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaacagtatgagtgggtcCtcatcgcagcctatgtggct	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32084938C>A	ENST00000403528.2	+	3	530	c.145C>A	c.(145-147)Ctc>Atc	p.L49I	HCRTR1_ENST00000373706.5_Missense_Mutation_p.L49I|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Missense_Mutation_p.L49I	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	49					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGAGTGGGTCCTCATCGCAGC	0.597													False	0	False	1:32084938	0	A	32084938	C	A	32084938	3	1	88	1	0	0	0	0	1	0	0	0	7048	681	24	3	147	3	HCRTR1	1	32084938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34005	32084938	217165683	383	8095											
COL16A1	1307	broad.mit.edu	37	chr1	32133784	32133784	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaggcagtcctggggggccCgtggcacctgggtaacctgg	17	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32133784C>A	ENST00000373672.3	-	51	3801	c.3285G>T	c.(3283-3285)acG>acT	p.T1095T	COL16A1_ENST00000271069.6_Silent_p.T1095T	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1095	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGGGGGCCCGTGGCACCTG	0.622													False	0	True	1:32133784	0	A	32133784	C	A	32133784	2	1	88	1	0	0	0	0	0	0	0	1	3696	639	23	3		3	COL16A1	1	32133784	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48846	32133784	217116837	384	8096											
COL16A1	1307	broad.mit.edu	37	chr1	32138370	32138370	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccagggatgccctggtcTcccttctctcccttctccac	6	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32138370T>C	ENST00000373672.3	-	45	3447	c.2931A>G	c.(2929-2931)ggA>ggG	p.G977G	COL16A1_ENST00000271069.6_Silent_p.G977G	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	977	Triple-helical region 3 (COL3).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGCCCTGGTCTCCCTTCTCTC	0.652													False	0	True	1:32138370	0	C	32138370	T	C	32138370	2	2	88	1	0	0	0	0	0	0	0	1	3696	1538	54	4		4	COL16A1	1	32138370	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4586	32138370	217112251	385	8097											
BAI2	576	broad.mit.edu	37	chr1	32196611	32196611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtagccttcagtgtgGgccactgtcttggcagctcg	15	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32196611G>A	ENST00000373658.3	-	29	4511	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A	BAI2_ENST00000373655.2_Silent_p.A1390A|BAI2_ENST00000398547.1_Silent_p.A1323A|BAI2_ENST00000527361.1_Silent_p.A1357A|BAI2_ENST00000398542.1_Silent_p.A1290A|BAI2_ENST00000257070.4_Silent_p.A1357A|BAI2_ENST00000398538.1_Silent_p.A1378A|BAI2_ENST00000398556.3_Silent_p.A1305A|BAI2_ENST00000440175.2_Silent_p.A999A|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1390					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTTCAGTGTGGGCCACTGTCT	0.677													False	0	True	1:32196611	0	A	32196611	G	A	32196611	2	1	88	1	0	0	0	0	0	0	0	1	1303	1219	43	2		2	BAI2	1	32196611	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58241	32196611	217054010	386	8098											
BAI2	576	broad.mit.edu	37	chr1	32198193	32198193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggcacacccccatctgGcacttcaccacatcctggac	7	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32198193G>A	ENST00000373658.3	-	27	3986	c.3645C>T	c.(3643-3645)tgC>tgT	p.C1215C	BAI2_ENST00000373655.2_Silent_p.C1215C|BAI2_ENST00000398547.1_Silent_p.C1148C|BAI2_ENST00000527361.1_Silent_p.C1182C|BAI2_ENST00000398542.1_Silent_p.C1115C|BAI2_ENST00000257070.4_Silent_p.C1182C|BAI2_ENST00000398538.1_Silent_p.C1203C|BAI2_ENST00000398556.3_Silent_p.C1130C|BAI2_ENST00000440175.2_Silent_p.C824C|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1215					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CCCCCATCTGGCACTTCACCA	0.657													False	0	False	1:32198193	0	A	32198193	G	A	32198193	2	1	88	1	0	0	0	0	0	0	0	1	1303	1195	42	2		2	BAI2	1	32198193	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1582	32198193	217052428	387	8099											
BAI2	576	broad.mit.edu	37	chr1	32207538	32207538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttagagcacaggctccacGcattccatggcccccacttg	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32207538G>A	ENST00000373658.3	-	9	1789	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	BAI2_ENST00000373655.2_Missense_Mutation_p.A483V|BAI2_ENST00000398547.1_Missense_Mutation_p.A416V|BAI2_ENST00000527361.1_Missense_Mutation_p.A483V|BAI2_ENST00000398542.1_Missense_Mutation_p.A416V|BAI2_ENST00000257070.4_Missense_Mutation_p.A483V|BAI2_ENST00000398538.1_Missense_Mutation_p.A471V|BAI2_ENST00000398556.3_Missense_Mutation_p.A431V|BAI2_ENST00000440175.2_Missense_Mutation_p.A125V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	483	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGGCTCCACGCATTCCATGG	0.642													False	0	False	1:32207538	0	A	32207538	G	A	32207538	3	1	88	1	0	0	0	0	1	0	0	0	1303	1087	38	1	3409	1	BAI2	1	32207538	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9345	32207538	217043083	388	8100											
BAI2	576	broad.mit.edu	37	chr1	32221720	32221720	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgggcagcaggagggcCtggagatgtggtggtggtgg	24	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32221720C>A	ENST00000373658.3	-	4	1059	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C	BAI2_ENST00000373655.2_Missense_Mutation_p.G240C|BAI2_ENST00000398547.1_Missense_Mutation_p.G228C|BAI2_ENST00000527361.1_Missense_Mutation_p.G240C|BAI2_ENST00000398542.1_Missense_Mutation_p.G228C|BAI2_ENST00000257070.4_Missense_Mutation_p.G240C|BAI2_ENST00000398538.1_Missense_Mutation_p.G228C|BAI2_ENST00000398556.3_Missense_Mutation_p.G243C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	240					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCAGGAGGGCCTGGAGATGTG	0.701													False	0	False	1:32221720	0	A	32221720	C	A	32221720	3	1	88	1	0	0	0	0	1	0	0	0	1303	681	24	3	4159	3	BAI2	1	32221720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14182	32221720	217028901	389	8101											
SPOCD1	90853	broad.mit.edu	37	chr1	32256723	32256723	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctggctgatagtatctcttCtccaccttactgttgaagga	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32256723C>A	ENST00000360482.2	-	16	3261	c.3132G>T	c.(3130-3132)gaG>gaT	p.E1044D	SPOCD1_ENST00000257100.3_Missense_Mutation_p.E524D|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E1031D|RP11-84A19.3_ENST00000527035.1_RNA	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1044					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGTATCTCTTCTCCACCTTAC	0.602													False	0	False	1:32256723	0	A	32256723	C	A	32256723	3	1	88	1	0	0	0	0	1	0	0	0	15160	912	32	3	522	3	SPOCD1	1	32256723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35003	32256723	216993898	390	8102											
SPOCD1	90853	broad.mit.edu	37	chr1	32258902	32258902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaagccgacagctgtgtcCcgagaccagctgggccctgg	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32258902C>T	ENST00000360482.2	-	13	2791	c.2662G>A	c.(2662-2664)Gga>Aga	p.G888R	SPOCD1_ENST00000257100.3_Missense_Mutation_p.G381R|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G888R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	888	SPOC.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CAGCTGTGTCCCGAGACCAGC	0.627													False	0	True	1:32258902	0	T	32258902	C	T	32258902	3	4	88	1	0	0	0	0	1	0	0	0	15160	632	22	2	1004	2	SPOCD1	1	32258902	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2179	32258902	216991719	391	8103											
SPOCD1	90853	broad.mit.edu	37	chr1	32262200	32262200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaacttaaccaccagatcCtccagggtcagtgtctggtc	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32262200C>T	ENST00000360482.2	-	10	2391	c.2262G>A	c.(2260-2262)gaG>gaA	p.E754E	SPOCD1_ENST00000257100.3_Silent_p.E247E|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Silent_p.E754E	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	754					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		ccaccaGATCCTCCAGGGTCA	0.602													False	0	False	1:32262200	0	T	32262200	C	T	32262200	2	4	88	1	0	0	0	0	0	0	0	1	15160	680	24	2		2	SPOCD1	1	32262200	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3298	32262200	216988421	392	8104											
SPOCD1	90853	broad.mit.edu	37	chr1	32279785	32279785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctggcacaggtgtcagCgggggcagcgagtccttgct	18	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32279785C>T	ENST00000360482.2	-	2	1279	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.A384T|SPOCD1_ENST00000533231.1_Missense_Mutation_p.A384T	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	384					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CAGGTGTCAGCGGGGGCAGCG	0.667													False	0	True	1:32279785	0	T	32279785	C	T	32279785	3	4	88	1	0	0	0	0	1	0	0	0	15160	768	27	1	2560	1	SPOCD1	1	32279785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17585	32279785	216970836	393	8105											
SPOCD1	90853	broad.mit.edu	37	chr1	32280525	32280525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaggccagcagacctgCtacaaagtttcctggggcaa	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32280525C>T	ENST00000360482.2	-	2	539	c.410G>A	c.(409-411)aGc>aAc	p.S137N	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.S137N|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S137N	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	137					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGCAGACCTGCTACAAAGTTT	0.607													False	0	False	1:32280525	0	T	32280525	C	T	32280525	3	4	88	1	0	0	0	0	1	0	0	0	15160	797	28	2	3300	2	SPOCD1	1	32280525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	740	32280525	216970096	394	8106											
TMEM39B	55116	broad.mit.edu	37	chr1	32568053	32568053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttttcagcaaacccctgCggatcctcaacatcctcctg	5	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32568053C>T	ENST00000336294.5	+	9	1404	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.R221W	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	420						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAAACCCCTGCGGATCCTCAA	0.567													False	0	False	1:32568053	0	T	32568053	C	T	32568053	3	4	88	1	0	0	0	0	1	0	0	0	16244	759	27	1	1292	1	TMEM39B	1	32568053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287528	32568053	216682568	395	8107											
KPNA6	23633	broad.mit.edu	37	chr1	32620216	32620216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagcccagggaaagacaAttatcgaatgaagagctata	12	7	0	3	rs141995585		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32620216A>G	ENST00000373625.3	+	2	125	c.32A>G	c.(31-33)aAt>aGt	p.N11S	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.N16S|KPNA6_ENST00000537234.1_Missense_Mutation_p.N8S	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	11	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGGAAAGACAATTATCGAATG	0.448													False	0	False	1:32620216	0	G	32620216	A	G	32620216	3	3	88	1	0	0	0	0	1	0	0	0	8484	101	4	4	38	4	KPNA6	1	32620216	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52163	32620216	216630405	396	8108											
LCK	3932	broad.mit.edu	37	chr1	32740348	32740348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactccacagctgctcatccGaaatggctctgaggtgcggg	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32740348G>A	ENST00000333070.4	+	3	216	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	LCK_ENST00000373564.3_Missense_Mutation_p.R39Q|LCK_ENST00000336890.5_Missense_Mutation_p.R39Q	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	39	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CTGCTCATCCGAAATGGCTCT	0.627			T	TRB@	T-ALL								False	0	True	1:32740348	0	A	32740348	G	A	32740348	3	1	88	1	0	0	0	0	1	0	0	0	8727	1058	37	1	122	1	LCK	1	32740348	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120132	32740348	216510273	397	8109											
BSDC1	55108	broad.mit.edu	37	chr1	32842030	32842030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcttggagtgaatagggGgtgagggtccagtctcaccc	18	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32842030G>A	ENST00000341071.7	-	9	1051	c.1040C>T	c.(1039-1041)cCc>cTc	p.P347L	BSDC1_ENST00000446293.2_Missense_Mutation_p.P347L|BSDC1_ENST00000449308.1_Missense_Mutation_p.P330L|BSDC1_ENST00000419121.2_Missense_Mutation_p.P274L|BSDC1_ENST00000526031.1_Missense_Mutation_p.P235L|BSDC1_ENST00000413080.1_Missense_Mutation_p.P269L|BSDC1_ENST00000455895.2_Missense_Mutation_p.P330L			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	330							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTGAATAGGGGGTGAGGGTCC	0.637													False	0	True	1:32842030	0	A	32842030	G	A	32842030	3	1	88	1	0	0	0	0	1	0	0	0	1535	1232	43	2	315	2	BSDC1	1	32842030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101682	32842030	216408591	398	8110											
ZBTB8A	653121	broad.mit.edu	37	chr1	33058584	33058584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcaactgaacgagcagCgcaggcaagatgtattttgt	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33058584C>T	ENST00000373510.4	+	3	281	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R18C	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GAACGAGCAGCGCAGGCAAGA	0.418													False	0	False	1:33058584	0	T	33058584	C	T	33058584	3	4	88	1	0	0	0	0	1	0	0	0	17639	768	27	1	54	1	ZBTB8A	1	33058584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216554	33058584	216192037	399	8111											
KIAA1522	57648	broad.mit.edu	37	chr1	33233558	33233558	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgctccctacaacaccaaGgtaagcttcctctccactcc	4	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33233558G>T	ENST00000401073.2	+	2	476	c.406G>T	c.(406-408)Gag>Tag	p.E136*	KIAA1522_ENST00000373480.1_Splice_Site_p.E77*|KIAA1522_ENST00000373481.3_Splice_Site_p.E88*|KIAA1522_ENST00000294521.3_Splice_Site_p.E77*	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	77										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACAACACCAAGGTAAGCTtcc	0.612													False	0	False	1:33233558	0	T	33233558	G	T	33233558	5	4	88	1	0	0	0	0	0	0	1	0	8288	1014	35	3	412	3	KIAA1522	1	33233558	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174974	33233558	216017063	400	8112											
KIAA1522	57648	broad.mit.edu	37	chr1	33235788	33235788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggggcagggcctgcagaGcccctgagcccggccatgtc	17	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33235788G>A	ENST00000401073.2	+	6	1078	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	KIAA1522_ENST00000373480.1_Silent_p.E277E|KIAA1522_ENST00000373481.3_Silent_p.E288E|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	277	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGCCTGCAGAGCCCCTGAGCC	0.652													False	0	True	1:33235788	0	A	33235788	G	A	33235788	2	1	88	1	0	0	0	0	0	0	0	1	8288	962	34	2		2	KIAA1522	1	33235788	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2230	33235788	216014833	401	8113											
KIAA1522	57648	broad.mit.edu	37	chr1	33236217	33236217	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagacacactcagcattcgGagcagtgggcagttgtctgg	13	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33236217G>A	ENST00000401073.2	+	6	1507	c.1437G>A	c.(1435-1437)cgG>cgA	p.R479R	KIAA1522_ENST00000373480.1_Silent_p.R420R|KIAA1522_ENST00000373481.3_Silent_p.R431R|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	420	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCAGCATTCGGAGCAGTGGGC	0.672													False	0	False	1:33236217	0	A	33236217	G	A	33236217	2	1	88	1	0	0	0	0	0	0	0	1	8288	1161	41	2		2	KIAA1522	1	33236217	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	429	33236217	216014404	402	8114											
RNF19B	127544	broad.mit.edu	37	chr1	33407890	33407890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccactggagagaatgccgcCactcagcgtgccccctgaga	12	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33407890C>A	ENST00000356990.5	-	7	1572	c.1573G>T	c.(1573-1575)Ggc>Tgc	p.G525C	RNF19B_ENST00000373456.7_Missense_Mutation_p.G526C|RNF19B_ENST00000235150.4_Missense_Mutation_p.G525C	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	526						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGAATGCCGCCACTCAGCGTG	0.458													False	0	False	1:33407890	0	A	33407890	C	A	33407890	3	1	88	1	0	0	0	0	1	0	0	0	13550	594	21	3	660	3	RNF19B	1	33407890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171673	33407890	215842731	403	8115											
RNF19B	127544	broad.mit.edu	37	chr1	33409668	33409668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaattttcactccttttcCgttggctgtgctaactccac	5	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33409668C>T	ENST00000356990.5	-	6	1353	c.1354G>A	c.(1354-1356)Gga>Aga	p.G452R	RNF19B_ENST00000373456.7_Missense_Mutation_p.G453R|RNF19B_ENST00000235150.4_Missense_Mutation_p.G452R	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	453						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACTCCTTTTCCGTTGGCTGTG	0.413													False	0	False	1:33409668	0	T	33409668	C	T	33409668	3	4	88	1	0	0	0	0	1	0	0	0	13550	661	23	1	883	1	RNF19B	1	33409668	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1778	33409668	215840953	404	8116											
RNF19B	127544	broad.mit.edu	37	chr1	33412058	33412058	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcaggaatggcaatgccaGcaatgagagaaatccccact	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33412058G>T	ENST00000356990.5	-	4	1090	c.1091C>A	c.(1090-1092)gCt>gAt	p.A364D	RNF19B_ENST00000373456.7_Missense_Mutation_p.A365D|RNF19B_ENST00000235150.4_Missense_Mutation_p.A364D	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	365						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGCAATGCCAGCAATGAGAGA	0.473													False	0	False	1:33412058	0	T	33412058	G	T	33412058	3	4	88	1	0	0	0	0	1	0	0	0	13550	971	34	3	1154	3	RNF19B	1	33412058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2390	33412058	215838563	405	8117											
AK2	204	broad.mit.edu	37	chr1	33487216	33487216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcctgcctcacagtcCgagggaagccatccagaaga	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33487216C>T	ENST00000373449.2	-	3	349	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	AK2_ENST00000467905.1_Missense_Mutation_p.R103Q|AK2_ENST00000354858.6_Missense_Mutation_p.R103Q|AK2_ENST00000487289.1_Missense_Mutation_p.R103Q|AK2_ENST00000548033.1_Missense_Mutation_p.R61Q|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000480134.1_Missense_Mutation_p.R103Q	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	103			R -> W (in RDYS).		nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCTCACAGTCCGAGGGAAGCC	0.423													False	0	False	1:33487216	0	T	33487216	C	T	33487216	3	4	88	1	0	0	0	0	1	0	0	0	440	652	23	1	436	1	AK2	1	33487216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75158	33487216	215763405	406	8118											
TRIM62	55223	broad.mit.edu	37	chr1	33625357	33625357	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagccagccgctcctgcagGatctgggctccctcctggac	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33625357G>A	ENST00000291416.5	-	3	926	c.693C>T	c.(691-693)atC>atT	p.I231I	TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Silent_p.I110I	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	231						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GCTCCTGCAGGATCTGGGCTC	0.692													False	0	False	1:33625357	0	A	33625357	G	A	33625357	2	1	88	1	0	0	0	0	0	0	0	1	16620	1164	41	2		2	TRIM62	1	33625357	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138141	33625357	215625264	407	8119											
PHC2	1912	broad.mit.edu	37	chr1	33794638	33794638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagatgagctggctgagatgGgtgacaagggttcctcatag	15	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33794638G>T	ENST00000257118.5	-	13	2308	c.2255C>A	c.(2254-2256)cCc>cAc	p.P752H	PHC2_ENST00000373418.3_Missense_Mutation_p.P217H|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_Missense_Mutation_p.P358H|PHC2_ENST00000419414.2_Missense_Mutation_p.P753H|PHC2_ENST00000373416.1_Missense_Mutation_p.P217H|PHC2_ENST00000431992.1_Missense_Mutation_p.P723H	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	752					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCTGAGATGGGTGACAAGGG	0.587													False	0	True	1:33794638	0	T	33794638	G	T	33794638	3	4	88	1	0	0	0	0	1	0	0	0	11886	1232	43	3	329	3	PHC2	1	33794638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169281	33794638	215455983	408	8120											
PHC2	1912	broad.mit.edu	37	chr1	33797020	33797020	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaaagtccacccggccacaGagctcacacttgagtttgag	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33797020G>T	ENST00000257118.5	-	11	1985	c.1932C>A	c.(1930-1932)ctC>ctA	p.L644L	PHC2_ENST00000373418.3_Silent_p.L109L|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_Silent_p.L250L|PHC2_ENST00000419414.2_Silent_p.L645L|PHC2_ENST00000373416.1_Silent_p.L109L|PHC2_ENST00000431992.1_Silent_p.L615L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	644					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCGGCCACAGAGCTCACACT	0.527													False	0	False	1:33797020	0	T	33797020	G	T	33797020	2	4	88	1	0	0	0	0	0	0	0	1	11886	929	33	3		3	PHC2	1	33797020	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2382	33797020	215453601	409	8121											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960721	33960721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccaccagcgcacccacaCtggagagaagccgtataaat	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33960721C>T	ENST00000361328.3	+	8	2930	c.2777C>T	c.(2776-2778)aCt>aTt	p.T926I		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	926					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CGCACCCACACTGGAGAGAAG	0.527													False	0	False	1:33960721	0	T	33960721	C	T	33960721	3	4	88	1	0	0	0	0	1	0	0	0	18314	565	20	2	2803	2	ZSCAN20	1	33960721	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163701	33960721	215289900	410	8122											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960823	33960823	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaggagagaagccctacaAatgccttgagtgtggaaaat	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33960823A>C	ENST00000361328.3	+	8	3032	c.2879A>C	c.(2878-2880)aAa>aCa	p.K960T		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	960					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGCCCTACAAATGCCTTGAG	0.502													False	0	True	1:33960823	0	C	33960823	A	C	33960823	3	2	88	1	0	0	0	0	1	0	0	0	18314	14	1	4	2905	4	ZSCAN20	1	33960823	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	102	33960823	215289798	411	8123											
C1orf94	84970	broad.mit.edu	37	chr1	34663476	34663476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaagatctgttccaagcCcaaggctgaccctgctgtgg	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34663476C>T	ENST00000488417.1	+	2	1091	c.971C>T	c.(970-972)cCc>cTc	p.P324L	C1orf94_ENST00000373374.3_Missense_Mutation_p.P134L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	134							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTTCCAAGCCCAAGGCTGAC	0.617													False	0	True	1:34663476	0	T	34663476	C	T	34663476	3	4	88	1	0	0	0	0	1	0	0	0	2087	623	22	2	977	2	C1orf94	1	34663476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	702653	34663476	214587145	412	8124											
C1orf94	84970	broad.mit.edu	37	chr1	34666546	34666546	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccagccgagaagaacttgCtctatgagttccttggggcc	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34666546C>A	ENST00000488417.1	+	3	1303	c.1183C>A	c.(1183-1185)Ctc>Atc	p.L395I	C1orf94_ENST00000373374.3_Missense_Mutation_p.L205I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	205							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GAAGAACTTGCTCTATGAGTT	0.577													False	0	False	1:34666546	0	A	34666546	C	A	34666546	3	1	88	1	0	0	0	0	1	0	0	0	2087	797	28	3	1193	3	C1orf94	1	34666546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3070	34666546	214584075	413	8125											
GJB5	2709	broad.mit.edu	37	chr1	35223537	35223537	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctgcatcctgctcaacctCgtggagctcatctacctggt	8	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35223537C>T	ENST00000338513.1	+	2	779	c.606C>T	c.(604-606)ctC>ctT	p.L202L		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	202					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TGCTCAACCTCGTGGAGCTCA	0.547													False	0	False	1:35223537	0	T	35223537	C	T	35223537	2	4	88	1	0	0	0	0	0	0	0	1	6456	871	31	1		1	GJB5	1	35223537	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	556991	35223537	214027084	414	8126											
GJA4	2701	broad.mit.edu	37	chr1	35260722	35260722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggagaggctggcgtcttCcaggccccctctcttcctgg	13	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35260722C>T	ENST00000342280.4	+	2	996	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	303					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTGGCGTCTTCCAGGCCCCCT	0.602													False	0	False	1:35260722	0	T	35260722	C	T	35260722	3	4	88	1	0	0	0	0	1	0	0	0	6448	855	30	2	910	2	GJA4	1	35260722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37185	35260722	213989899	415	8127											
DLGAP3	58512	broad.mit.edu	37	chr1	35370403	35370403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagccttgggcccattataGtcccgcttccccggcgcctc	9	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35370403G>T	ENST00000373347.1	-	3	850	c.582C>A	c.(580-582)gaC>gaA	p.D194E	DLGAP3_ENST00000235180.4_Missense_Mutation_p.D194E			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	194					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCCATTATAGTCCCGCTTCC	0.647													False	0	False	1:35370403	0	T	35370403	G	T	35370403	3	4	88	1	0	0	0	0	1	0	0	0	4591	1020	36	3	2397	3	DLGAP3	1	35370403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109681	35370403	213880218	416	8128											
ZMYM1	79830	broad.mit.edu	37	chr1	35578670	35578670	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttcatcagtattcagTcagcatgcaattggttccag	7	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35578670T>C	ENST00000373330.1	+	11	1413	c.1239T>C	c.(1237-1239)agT>agC	p.S413S	ZMYM1_ENST00000359858.4_Silent_p.S413S|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	413	Ser-rich.					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGTATTCAGTCAGCATGCAA	0.388													False	0	True	1:35578670	0	C	35578670	T	C	35578670	2	2	88	1	0	0	0	0	0	0	0	1	17782	1664	58	4		4	ZMYM1	1	35578670	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208267	35578670	213671951	417	8129											
ZMYM1	79830	broad.mit.edu	37	chr1	35580389	35580389	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagttatgtttttcggagttTgattattgcaaaataaagca	8	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35580389T>C	ENST00000373330.1	+	11	3132	c.2958T>C	c.(2956-2958)ttT>ttC	p.F986F	ZMYM1_ENST00000359858.4_Silent_p.F986F|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	986						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTCGGAGTTTGATTATTGCA	0.244													False	0	True	1:35580389	0	C	35580389	T	C	35580389	2	2	88	1	0	0	0	0	0	0	0	1	17782	1809	63	4		4	ZMYM1	1	35580389	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1719	35580389	213670232	418	8130											
ZMYM4	9202	broad.mit.edu	37	chr1	35824963	35824963	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggagaaaaatagagacCtaacttatgaacgtgaaaaa	9	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35824963C>A	ENST00000314607.6	+	3	603	c.523C>A	c.(523-525)Cta>Ata	p.L175I	ZMYM4-AS1_ENST00000432683.1_RNA|ZMYM4_ENST00000373297.2_Missense_Mutation_p.L175I	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	175					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAATAGAGACCTAACTTATGA	0.328													False	0	False	1:35824963	0	A	35824963	C	A	35824963	3	1	88	1	0	0	0	0	1	0	0	0	17785	680	24	3	533	3	ZMYM4	1	35824963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244574	35824963	213425658	419	8131											
ZMYM4	9202	broad.mit.edu	37	chr1	35873657	35873657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcctgcacttttgctgAgttgagtttgggcttatgcc	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35873657A>G	ENST00000314607.6	+	26	3925	c.3845A>G	c.(3844-3846)gAg>gGg	p.E1282G	ZMYM4_ENST00000373297.2_Missense_Mutation_p.E1193G	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1282					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTTTTGCTGAGTTGAGTTTG	0.398													False	0	True	1:35873657	0	G	35873657	A	G	35873657	3	3	88	1	0	0	0	0	1	0	0	0	17785	304	11	4	3947	4	ZMYM4	1	35873657	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48694	35873657	213376964	420	8132											
KIAA0319L	79932	broad.mit.edu	37	chr1	35900633	35900633	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcgctgtccagctctgaCtcggagtgcatcaggctgct	11	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35900633C>A	ENST00000325722.3	-	21	3246	c.3012G>T	c.(3010-3012)gaG>gaT	p.E1004D	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E441D	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1004						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAGCTCTGACTCGGAGTGCA	0.542													False	0	False	1:35900633	0	A	35900633	C	A	35900633	3	1	88	1	0	0	0	0	1	0	0	0	8219	564	20	3	141	3	KIAA0319L	1	35900633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26976	35900633	213349988	421	8133											
NCDN	23154	broad.mit.edu	37	chr1	36026194	36026194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacccggacgatgctgccCgccgctccatgattgatgac	13	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36026194C>T	ENST00000373243.2	+	3	825	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	NCDN_ENST00000373253.3_Missense_Mutation_p.R131C|NCDN_ENST00000356090.4_Missense_Mutation_p.R148C|NCDN_ENST00000459931.1_3'UTR	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	148					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGATGCTGCCCGCCGCTCCAT	0.627													False	0	True	1:36026194	0	T	36026194	C	T	36026194	3	4	88	1	0	0	0	0	1	0	0	0	10282	652	23	1	452	1	NCDN	1	36026194	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125561	36026194	213224427	422	8134											
NCDN	23154	broad.mit.edu	37	chr1	36028103	36028103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggtgtgccagctgctGcccttcctcgtccgctatgc	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36028103G>A	ENST00000373243.2	+	4	1637	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	NCDN_ENST00000373253.3_Silent_p.L401L|NCDN_ENST00000356090.4_Silent_p.L418L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	418					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCAGCTGCTGCCCTTCCTCG	0.632													False	0	True	1:36028103	0	A	36028103	G	A	36028103	2	1	88	1	0	0	0	0	0	0	0	1	10282	1306	46	2		2	NCDN	1	36028103	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1909	36028103	213222518	423	8135											
NCDN	23154	broad.mit.edu	37	chr1	36029470	36029470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgctaatgtggccacCctggggctcctcatggcccg	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36029470C>T	ENST00000373243.2	+	6	2096	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	NCDN_ENST00000373253.3_Silent_p.T554T|NCDN_ENST00000356090.4_Silent_p.T571T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	571					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGTGGCCACCCTGGGGCTCC	0.582													False	0	True	1:36029470	0	T	36029470	C	T	36029470	2	4	88	1	0	0	0	0	0	0	0	1	10282	610	22	2		2	NCDN	1	36029470	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1367	36029470	213221151	424	8136											
TFAP2E	339488	broad.mit.edu	37	chr1	36053933	36053933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccctcttctccacagtgCccatcccctccaaagccagc	4	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36053933C>T	ENST00000373235.3	+	4	773	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	189						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTCCACAGTGCCCATCCCCTC	0.597													False	0	True	1:36053933	0	T	36053933	C	T	36053933	3	4	88	1	0	0	0	0	1	0	0	0	15873	739	26	2	579	2	TFAP2E	1	36053933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24463	36053933	213196688	425	8137											
CLSPN	63967	broad.mit.edu	37	chr1	36208797	36208797	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttcttcatcatcatcttCatggtcttccagtgccagat	5	12	8	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36208797C>T	ENST00000251195.5	-	18	3184	c.3088G>A	c.(3088-3090)Gaa>Aaa	p.E1030K	RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000520551.1_Missense_Mutation_p.E977K|CLSPN_ENST00000373220.3_Missense_Mutation_p.E966K|CLSPN_ENST00000318121.3_Missense_Mutation_p.E1030K			Q9HAW4	CLSPN_HUMAN	claspin	1030					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCATCATCTTCATGGTCTTCC	0.368													False	0	False	1:36208797	0	T	36208797	C	T	36208797	3	4	88	1	0	0	0	0	1	0	0	0	3583	835	29	2	963	2	CLSPN	1	36208797	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154864	36208797	213041824	426	8138											
TEKT2	27285	broad.mit.edu	37	chr1	36553677	36553677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtgcatggacacacggCgcaagctgaccgtgcctgct	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36553677C>T	ENST00000207457.3	+	10	1310	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	395					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACACACGGCGCAAGCTGAC	0.607													False	0	False	1:36553677	0	T	36553677	C	T	36553677	3	4	88	1	0	0	0	0	1	0	0	0	15835	768	27	1	1217	1	TEKT2	1	36553677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	344880	36553677	212696944	427	8139											
ADPRHL2	54936	broad.mit.edu	37	chr1	36558779	36558779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagccagaccctgagatccCttctgccttcaatagcctcc	8	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36558779C>A	ENST00000373178.4	+	6	914	c.884C>A	c.(883-885)cCt>cAt	p.P295H		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	295						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CCTGAGATCCCTTCTGCCTTC	0.557													False	0	True	1:36558779	0	A	36558779	C	A	36558779	3	1	88	1	0	0	0	0	1	0	0	0	333	681	24	3	906	3	ADPRHL2	1	36558779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5102	36558779	212691842	428	8140											
COL8A2	1296	broad.mit.edu	37	chr1	36563619	36563619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccccccttgcccagcaCggcaccctccacaccgccgt	7	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563619C>T	ENST00000397799.1	-	4	1887	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	COL8A2_ENST00000303143.4_Missense_Mutation_p.V555M|COL8A2_ENST00000481785.1_Missense_Mutation_p.V490M			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	555	Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGCCCAGCACGGCACCCTCC	0.721													False	0	False	1:36563619	0	T	36563619	C	T	36563619	3	4	88	1	0	0	0	0	1	0	0	0	3729	536	19	1	452	1	COL8A2	1	36563619	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4840	36563619	212687002	429	8141											
COL8A2	1296	broad.mit.edu	37	chr1	36563679	36563679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccagtctcatcgaaggCcccaggggcaccagggggtc	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563679C>T	ENST00000397799.1	-	4	1827	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	COL8A2_ENST00000303143.4_Missense_Mutation_p.A535T|COL8A2_ENST00000481785.1_Missense_Mutation_p.A470T			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	535	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCATCGAAGGCCCCAGGGGCA	0.746													False	0	True	1:36563679	0	T	36563679	C	T	36563679	3	4	88	1	0	0	0	0	1	0	0	0	3729	739	26	2	512	2	COL8A2	1	36563679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	36563679	212686942	430	8142											
COL8A2	1296	broad.mit.edu	37	chr1	36564482	36564482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccttttgggcccacagctCctggctcccccctggggcct	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36564482C>T	ENST00000397799.1	-	4	1024	c.800G>A	c.(799-801)gGa>gAa	p.G267E	COL8A2_ENST00000303143.4_Missense_Mutation_p.G267E|COL8A2_ENST00000481785.1_Missense_Mutation_p.G202E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	267	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCCACAGCTCCTGGCTCCCC	0.662													False	0	False	1:36564482	0	T	36564482	C	T	36564482	3	4	88	1	0	0	0	0	1	0	0	0	3729	855	30	2	1315	2	COL8A2	1	36564482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	803	36564482	212686139	431	8143											
MAP7D1	55700	broad.mit.edu	37	chr1	36640530	36640530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctccgtgtcggcagttaaCctgcccaaacacgtggactc	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36640530C>T	ENST00000373151.2	+	6	987	c.771C>T	c.(769-771)aaC>aaT	p.N257N	MAP7D1_ENST00000316156.4_Intron|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Silent_p.N257N	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	257						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CGGCAGTTAACCTGCCCAAAC	0.612													False	0	False	1:36640530	0	T	36640530	C	T	36640530	2	4	88	1	0	0	0	0	0	0	0	1	9334	506	18	2		2	MAP7D1	1	36640530	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76048	36640530	212610091	432	8144											
MAP7D1	55700	broad.mit.edu	37	chr1	36642393	36642393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagaagcgccagtcgctGcccgcctccccacgtgcccg	10	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36642393G>A	ENST00000316156.4	+	7	1671	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L	MAP7D1_ENST00000373151.2_Silent_p.L443L|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Silent_p.L411L			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	443						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCAGTCGCTGCCCGCCTCCC	0.657													False	0	True	1:36642393	0	A	36642393	G	A	36642393	2	1	88	1	0	0	0	0	0	0	0	1	9334	1306	46	2		2	MAP7D1	1	36642393	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1863	36642393	212608228	433	8145											
MAP7D1	55700	broad.mit.edu	37	chr1	36642421	36642421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacgtgcccgcctctctGccagcaccgcctctgagctc	8	22	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36642421G>A	ENST00000316156.4	+	7	1699	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	MAP7D1_ENST00000373151.2_Missense_Mutation_p.A453T|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Missense_Mutation_p.A421T			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	453						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCGCCTCTCTGCCAGCACCGC	0.647													False	0	True	1:36642421	0	A	36642421	G	A	36642421	3	1	88	1	0	0	0	0	1	0	0	0	9334	1319	46	2	1387	2	MAP7D1	1	36642421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	36642421	212608200	434	8146											
THRAP3	9967	broad.mit.edu	37	chr1	36766592	36766592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagagacagaggaaagagaGgagagcaccacgggctttga	16	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36766592G>T	ENST00000354618.5	+	10	2633	c.2409G>T	c.(2407-2409)gaG>gaT	p.E803D	THRAP3_ENST00000469141.2_Missense_Mutation_p.E803D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	803					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGAAAGAGAGGAGAGCACCA	0.512			T	USP6	aneurysmal bone cysts								False	0	True	1:36766592	0	T	36766592	G	T	36766592	3	4	88	1	0	0	0	0	1	0	0	0	15956	991	35	3	2439	3	THRAP3	1	36766592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124171	36766592	212484029	435	8147											
MRPS15	64960	broad.mit.edu	37	chr1	36921477	36921477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttttgggctgctgctgcaGcctttaaggctcttcttcgc	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36921477G>T	ENST00000373116.5	-	8	847	c.686C>A	c.(685-687)gCt>gAt	p.A229D	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	229					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCTGCTGCAGCCTTTAAGGC	0.473													False	0	False	1:36921477	0	T	36921477	G	T	36921477	3	4	88	1	0	0	0	0	1	0	0	0	9892	971	34	3	91	3	MRPS15	1	36921477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154885	36921477	212329144	436	8148											
CSF3R	1441	broad.mit.edu	37	chr1	36939383	36939383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttgaaactcttcagagtgAagctggtgggtaggtgggtc	15	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36939383A>G	ENST00000373103.1	-	5	1014	c.467T>C	c.(466-468)tTc>tCc	p.F156S	CSF3R_ENST00000418048.2_Missense_Mutation_p.F156S|CSF3R_ENST00000373106.1_Missense_Mutation_p.F156S|CSF3R_ENST00000440588.2_Missense_Mutation_p.F156S|CSF3R_ENST00000361632.4_Missense_Mutation_p.F156S|CSF3R_ENST00000331941.5_Missense_Mutation_p.F156S|CSF3R_ENST00000373104.1_Missense_Mutation_p.F156S|CSF3R_ENST00000338937.5_Missense_Mutation_p.F156S	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	156	Fibronectin type-III 1.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTTCAGAGTGAAGCTGGTGGG	0.602													False	0	False	1:36939383	0	G	36939383	A	G	36939383	3	3	88	1	0	0	0	0	1	0	0	0	3962	246	9	4	2285	4	CSF3R	1	36939383	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17906	36939383	212311238	437	8149											
ZC3H12A	80149	broad.mit.edu	37	chr1	37947216	37947216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagaccagcacatcctgCgggaactggagaagaagaag	12	11	0	4	rs141438153	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:37947216C>T	ENST00000373087.6	+	4	714	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	200					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCACATCCTGCGGGAACTGGA	0.602													False	0	True	1:37947216	0	T	37947216	C	T	37947216	3	4	88	1	0	0	0	0	1	0	0	0	17644	759	27	1	608	1	ZC3H12A	1	37947216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1007833	37947216	211303405	438	8150											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948755	37948755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccctggagagccagatgtCggaactttggggggttcgag	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:37948755C>T	ENST00000373087.6	+	6	1459	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	448					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCAGATGTCGGAACTTTGG	0.647													False	0	False	1:37948755	0	T	37948755	C	T	37948755	3	4	88	1	0	0	0	0	1	0	0	0	17644	893	31	1	1361	1	ZC3H12A	1	37948755	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1539	37948755	211301866	439	8151											
SNIP1	79753	broad.mit.edu	37	chr1	38003439	38003439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgactcatggagcaagacGtattctctgctactgaatcc	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38003439G>A	ENST00000296215.6	-	4	1173	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	367					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GGAGCAAGACGTATTCTCTGC	0.418													False	0	False	1:38003439	0	A	38003439	G	A	38003439	2	1	88	1	0	0	0	0	0	0	0	1	14928	1140	40	1		1	SNIP1	1	38003439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54684	38003439	211247182	440	8152											
SNIP1	79753	broad.mit.edu	37	chr1	38006201	38006201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcgatcccgtccctgaccCtgcccactcccaggcctctc	6	22	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38006201C>A	ENST00000296215.6	-	3	555	c.483G>T	c.(481-483)caG>caT	p.Q161H	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	161	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GTCCCTGACCCTGCCCACTCC	0.587													False	0	True	1:38006201	0	A	38006201	C	A	38006201	3	1	88	1	0	0	0	0	1	0	0	0	14928	680	24	3	715	3	SNIP1	1	38006201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2762	38006201	211244420	441	8153											
GNL2	29889	broad.mit.edu	37	chr1	38040330	38040330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcattctcccaagaaTcaatcttgtatgttttgctg	6	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38040330T>C	ENST00000373062.3	-	11	1336	c.1238A>G	c.(1237-1239)gAt>gGt	p.D413G		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	413					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CTCCCAAGAATCAATCTTGTA	0.408													False	0	True	1:38040330	0	C	38040330	T	C	38040330	3	2	88	1	0	0	0	0	1	0	0	0	6581	1435	50	4	981	4	GNL2	1	38040330	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34129	38040330	211210291	442	8154											
GNL2	29889	broad.mit.edu	37	chr1	38042031	38042031	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accctgcgcccaacgtacctTtgtttcacctgcaatgggag	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38042031T>G	ENST00000373062.3	-	9	1134	c.1036A>C	c.(1036-1038)Aag>Cag	p.K346Q		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	346	G.				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CAACGTACCTTTGTTTCACCT	0.418													False	0	True	1:38042031	0	G	38042031	T	G	38042031	3	3	88	1	0	0	0	0	1	0	0	0	6581	1850	64	4	1191	4	GNL2	1	38042031	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1701	38042031	211208590	443	8155											
RSPO1	284654	broad.mit.edu	37	chr1	38082189	38082189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgtcggggttgcgggcgtCgaagtatccaggtgggcagg	19	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38082189C>T	ENST00000356545.2	-	5	1040	c.253G>A	c.(253-255)Gac>Aac	p.D85N	RSPO1_ENST00000401070.1_Missense_Mutation_p.D85N|RSPO1_ENST00000401068.1_Missense_Mutation_p.D85N|RSPO1_ENST00000373059.1_Missense_Mutation_p.D58N|RSPO1_ENST00000401069.1_Missense_Mutation_p.D85N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D85N	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	85					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGCGGGCGTCGAAGTATCCA	0.622													False	0	False	1:38082189	0	T	38082189	C	T	38082189	3	4	88	1	0	0	0	0	1	0	0	0	13788	884	31	1	554	1	RSPO1	1	38082189	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40158	38082189	211168432	444	8156											
RSPO1	284654	broad.mit.edu	37	chr1	38082217	38082217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtgggcaggacggcaaGcagacgcccacctggcggat	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38082217G>A	ENST00000356545.2	-	5	1012	c.225C>T	c.(223-225)tgC>tgT	p.C75C	RSPO1_ENST00000401070.1_Silent_p.C75C|RSPO1_ENST00000401068.1_Silent_p.C75C|RSPO1_ENST00000373059.1_Silent_p.C48C|RSPO1_ENST00000401069.1_Silent_p.C75C|RSPO1_ENST00000401071.2_Silent_p.C75C	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	75					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGACGGCAAGCAGACGCCCA	0.612													False	0	False	1:38082217	0	A	38082217	G	A	38082217	2	1	88	1	0	0	0	0	0	0	0	1	13788	963	34	2		2	RSPO1	1	38082217	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	38082217	211168404	445	8157											
CDCA8	55143	broad.mit.edu	37	chr1	38168953	38168953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaacactgttaccccagCcgtgggccgattggaggtgt	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38168953C>T	ENST00000373055.1	+	7	791	c.518C>T	c.(517-519)gCc>gTc	p.A173V	CDCA8_ENST00000327331.2_Missense_Mutation_p.A173V	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	173					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTTACCCCAGCCGTGGGCCGA	0.537													False	0	False	1:38168953	0	T	38168953	C	T	38168953	3	4	88	1	0	0	0	0	1	0	0	0	3115	739	26	2	544	2	CDCA8	1	38168953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86736	38168953	211081668	446	8158											
EPHA10	284656	broad.mit.edu	37	chr1	38185149	38185149	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccatcttgctcaggatgCtgtggatctgggagaacctg	13	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38185149C>A	ENST00000373048.4	-	15	2692	c.2693G>T	c.(2692-2694)aGc>aTc	p.S898I	EPHA10_ENST00000427468.2_Missense_Mutation_p.S898I|EPHA10_ENST00000540011.1_Intron|EPHA10_ENST00000330210.7_Missense_Mutation_p.S393I|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	898	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTCAGGATGCTGTGGATCTG	0.612													False	0	False	1:38185149	0	A	38185149	C	A	38185149	3	1	88	1	0	0	0	0	1	0	0	0	5198	797	28	3	345	3	EPHA10	1	38185149	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16196	38185149	211065472	447	8159											
EPHA10	284656	broad.mit.edu	37	chr1	38187396	38187396	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactggcccagcgtgagggcCtcggccaggaagccgagcct	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38187396C>A	ENST00000373048.4	-	11	2081	c.2082G>T	c.(2080-2082)gaG>gaT	p.E694D	EPHA10_ENST00000427468.2_Missense_Mutation_p.E694D|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.E189D|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	694	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGTGAGGGCCTCGGCCAGGA	0.672													False	0	False	1:38187396	0	A	38187396	C	A	38187396	3	1	88	1	0	0	0	0	1	0	0	0	5198	680	24	3	972	3	EPHA10	1	38187396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2247	38187396	211063225	448	8160											
EPHA10	284656	broad.mit.edu	37	chr1	38192845	38192845	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagatggtcactacggtgacGacaatggcggggctctggtc	16	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38192845G>A	ENST00000373048.4	-	8	1700	c.1701C>T	c.(1699-1701)gtC>gtT	p.V567V	EPHA10_ENST00000427468.2_Silent_p.V567V|EPHA10_ENST00000540011.1_Silent_p.V62V|EPHA10_ENST00000330210.7_Silent_p.V62V|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	567						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTACGGTGACGACAATGGCGG	0.642													False	0	False	1:38192845	0	A	38192845	G	A	38192845	2	1	88	1	0	0	0	0	0	0	0	1	5198	1045	37	1		1	EPHA10	1	38192845	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5449	38192845	211057776	449	8161											
EPHA10	284656	broad.mit.edu	37	chr1	38227628	38227628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagttccacgaagatgCgctgcccgcggccacggctt	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38227628C>T	ENST00000373048.4	-	3	298	c.299G>A	c.(298-300)cGc>cAc	p.R100H	EPHA10_ENST00000427468.2_Missense_Mutation_p.R100H|EPHA10_ENST00000319637.6_Missense_Mutation_p.R100H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	100						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACGAAGATGCGCTGCCCGCG	0.607													False	0	False	1:38227628	0	T	38227628	C	T	38227628	3	4	88	1	0	0	0	0	1	0	0	0	5198	768	27	1	2825	1	EPHA10	1	38227628	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34783	38227628	211022993	450	8162											
YRDC	79693	broad.mit.edu	37	chr1	38272774	38272774	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagaaaacttgactcacaGgcgtaaaagggtttaggtcc	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38272774G>A	ENST00000373044.2	-	2	507	c.503C>T	c.(502-504)cCt>cTt	p.P168L	C1orf122_ENST00000373043.1_5'UTR	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	168	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGACTCACAGGCGTAAAAGG	0.517													False	0	False	1:38272774	0	A	38272774	G	A	38272774	5	1	88	1	0	0	0	0	0	0	1	0	17578	1014	35	2	352	2	YRDC	1	38272774	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45146	38272774	210977847	451	8163											
MTF1	4520	broad.mit.edu	37	chr1	38287880	38287880	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgactaggctggactgcagGatagctgtgttgggagttgg	17	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38287880G>T	ENST00000373036.4	-	9	1820	c.1680C>A	c.(1678-1680)atC>atA	p.I560I		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	560						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGACTGCAGGATAGCTGTGT	0.473													False	0	False	1:38287880	0	T	38287880	G	T	38287880	2	4	88	1	0	0	0	0	0	0	0	1	9989	1164	41	3		3	MTF1	1	38287880	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15106	38287880	210962741	452	8164											
MTF1	4520	broad.mit.edu	37	chr1	38305726	38305726	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccacagccctcctgattacaGacaaaggtgtactctcctcg	7	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38305726G>A	ENST00000373036.4	-	3	653	c.513C>T	c.(511-513)gtC>gtT	p.V171V		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	171						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTGATTACAGACAAAGGTGT	0.557													False	0	False	1:38305726	0	A	38305726	G	A	38305726	2	1	88	1	0	0	0	0	0	0	0	1	9989	929	33	2		2	MTF1	1	38305726	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17846	38305726	210944895	453	8165											
INPP5B	3633	broad.mit.edu	37	chr1	38341380	38341380	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtaaagctcgtcatttacGaccctcacctgaaagggaaa	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38341380G>A	ENST00000373023.2	-	17	2019	c.1926C>T	c.(1924-1926)gtC>gtT	p.V642V	INPP5B_ENST00000373026.1_Silent_p.V642V|INPP5B_ENST00000373024.3_Silent_p.V562V|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373027.1_Silent_p.V398V	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	642					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGTCATTTACGACCCTCACCT	0.483													False	0	False	1:38341380	0	A	38341380	G	A	38341380	2	1	88	1	0	0	0	0	0	0	0	1	7805	1045	37	1		1	INPP5B	1	38341380	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35654	38341380	210909241	454	8166											
FHL3	2275	broad.mit.edu	37	chr1	38463411	38463411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagagttctccaaaacaGgccacacagtagggatcttc	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38463411G>A	ENST00000373016.3	-	5	801	c.633C>T	c.(631-633)gcC>gcT	p.A211A	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	211	LIM zinc-binding 3.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCCAAAACAGGCCACACAGT	0.587													False	0	False	1:38463411	0	A	38463411	G	A	38463411	2	1	88	1	0	0	0	0	0	0	0	1	5920	987	35	2		2	FHL3	1	38463411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122031	38463411	210787210	455	8167											
FHL3	2275	broad.mit.edu	37	chr1	38463501	38463501	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaccagacattctcgatgCcacggctgatcacggtatgt	10	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38463501C>T	ENST00000373016.3	-	5	711	c.543G>A	c.(541-543)tgG>tgA	p.W181*	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	181	LIM zinc-binding 3.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTCTCGATGCCACGGCTGAT	0.587													False	0	False	1:38463501	0	T	38463501	C	T	38463501	4	4	88	1	0	0	0	0	0	1	0	0	5920	740	26	2	307	2	FHL3	1	38463501	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90	38463501	210787120	456	8168											
UTP11L	51118	broad.mit.edu	37	chr1	38483358	38483358	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgactaccgtaaaaaacaAgaatacctcaaagctcttcg	6	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38483358A>C	ENST00000373014.4	+	3	205	c.144A>C	c.(142-144)caA>caC	p.Q48H	UTP11L_ENST00000537711.1_Missense_Mutation_p.Q48H|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	48					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTAAAAAACAAGAATACCTCA	0.348													False	0	False	1:38483358	0	C	38483358	A	C	38483358	3	2	88	1	0	0	0	0	1	0	0	0	17178	69	3	4	154	4	UTP11L	1	38483358	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19857	38483358	210767263	457	8169											
POU3F1	5453	broad.mit.edu	37	chr1	38511485	38511485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacttgttgagcagcgGcttgagcttgcacatgttct	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38511485G>A	ENST00000373012.2	-	1	965	c.931C>T	c.(931-933)Ccg>Tcg	p.P311S		NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	311	POU-specific.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGAGCAGCGGCTTGAGCTTG	0.637													False	0	False	1:38511485	0	A	38511485	G	A	38511485	3	1	88	1	0	0	0	0	1	0	0	0	12343	1203	42	2	428	2	POU3F1	1	38511485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28127	38511485	210739136	458	8170											
GJA9	81025	broad.mit.edu	37	chr1	39340391	39340391	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtcaagtgattgagaatcTccttgtgaaggaggaagggt	14	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39340391T>C	ENST00000357771.3	-	2	1660	c.1380A>G	c.(1378-1380)ggA>ggG	p.G460G	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Silent_p.G460G|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000454994.2_Intron|RP5-864K19.4_ENST00000456813.1_RNA	NM_030772.4	NP_110399.2	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	460					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ATTGAGAATCTCCTTGTGAAG	0.488													False	0	False	1:39340391	0	C	39340391	T	C	39340391	2	2	88	1	0	0	0	0	0	0	0	1	6451	1538	54	4		4	GJA9	1	39340391	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	828906	39340391	209910230	459	8171											
MACF1	23499	broad.mit.edu	37	chr1	39785375	39785375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagaaatcagacaaaactgGatcaatgtcaaaaattttcc	6	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39785375G>A	ENST00000564288.1	+	31	4762	c.3985G>A	c.(3985-3987)Gat>Aat	p.D1329N	MACF1_ENST00000567887.1_Missense_Mutation_p.D1366N|MACF1_ENST00000545844.1_Missense_Mutation_p.D1334N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.D1334N|MACF1_ENST00000372915.3_Missense_Mutation_p.D1334N|MACF1_ENST00000361689.2_Missense_Mutation_p.D1334N|MACF1_ENST00000317713.7_Missense_Mutation_p.D1334N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1334					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACAAAACTGGATCAATGTCA	0.368													False	0	False	1:39785375	0	A	39785375	G	A	39785375	3	1	88	1	0	0	0	0	1	0	0	0	9207	1174	41	2	4118	2	MACF1	1	39785375	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	444984	39785375	209465246	460	8172											
MACF1	23499	broad.mit.edu	37	chr1	39797612	39797612	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaacaggacacagactTacagtggaagaggctgtaag	12	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39797612T>C	ENST00000564288.1	+	37	6129	c.5352T>C	c.(5350-5352)ctT>ctC	p.L1784L	MACF1_ENST00000567887.1_Silent_p.L1821L|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.L224L|MACF1_ENST00000372915.3_Silent_p.L1789L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1789					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACACAGACTTACAGTGGAAG	0.478													False	0	False	1:39797612	0	C	39797612	T	C	39797612	2	2	88	1	0	0	0	0	0	0	0	1	9207	1741	61	4		4	MACF1	1	39797612	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12237	39797612	209453009	461	8173											
MACF1	23499	broad.mit.edu	37	chr1	39798740	39798740	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaccaaagaaagaacaTcaacctctaagaaacacttc	4	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39798740T>A	ENST00000564288.1	+	37	7257	c.6480T>A	c.(6478-6480)caT>caA	p.H2160Q	MACF1_ENST00000567887.1_Missense_Mutation_p.H2197Q|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.H600Q|MACF1_ENST00000372915.3_Missense_Mutation_p.H2165Q|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2165					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGAACATCAACCTCTAA	0.433													False	0	False	1:39798740	0	A	39798740	T	A	39798740	3	1	88	1	0	0	0	0	1	0	0	0	9207	1432	50	5	6571	5	MACF1	1	39798740	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1128	39798740	209451881	462	8174											
MACF1	23499	broad.mit.edu	37	chr1	39799004	39799004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtcaagaagcacagaaCatcgcaggtggtagtatgat	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39799004C>T	ENST00000564288.1	+	37	7521	c.6744C>T	c.(6742-6744)aaC>aaT	p.N2248N	MACF1_ENST00000567887.1_Silent_p.N2285N|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.N688N|MACF1_ENST00000372915.3_Silent_p.N2253N|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2253					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGCACAGAACATCGCAGGTG	0.398													False	0	False	1:39799004	0	T	39799004	C	T	39799004	2	4	88	1	0	0	0	0	0	0	0	1	9207	477	17	2		2	MACF1	1	39799004	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264	39799004	209451617	463	8175											
MACF1	23499	broad.mit.edu	37	chr1	39799706	39799706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctttaacagttgtgcaGtccattgacagaggtctttt	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39799706G>A	ENST00000564288.1	+	37	8223	c.7446G>A	c.(7444-7446)caG>caA	p.Q2482Q	MACF1_ENST00000567887.1_Silent_p.Q2519Q|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.Q922Q|MACF1_ENST00000372915.3_Silent_p.Q2487Q|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2487					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTTGTGCAGTCCATTGACA	0.413													False	0	False	1:39799706	0	A	39799706	G	A	39799706	2	1	88	1	0	0	0	0	0	0	0	1	9207	1020	36	2		2	MACF1	1	39799706	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	702	39799706	209450915	464	8176											
MACF1	23499	broad.mit.edu	37	chr1	39801495	39801495	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaaagtaaacaatttaagtCtctgcttgactttaaaacca	5	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39801495C>A	ENST00000564288.1	+	37	10012	c.9235C>A	c.(9235-9237)Ctc>Atc	p.L3079I	MACF1_ENST00000567887.1_Missense_Mutation_p.L3116I|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L1519I|MACF1_ENST00000372915.3_Missense_Mutation_p.L3084I|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3084					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.L1519I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAATTTAAGTCTCTGCTTGAC	0.403													False	0	False	1:39801495	0	A	39801495	C	A	39801495	3	1	88	1	0	0	0	0	1	0	0	0	9207	913	32	3	9326	3	MACF1	1	39801495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1789	39801495	209449126	465	8177											
MACF1	23499	broad.mit.edu	37	chr1	39826503	39826503	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaaagcctctcctatagcCtggctgagcgatcttctctg	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39826503C>A	ENST00000564288.1	+	48	13060	c.12283C>A	c.(12283-12285)Ctg>Atg	p.L4095M	MACF1_ENST00000567887.1_Missense_Mutation_p.L4132M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2033M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.L2033M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2535M|MACF1_ENST00000372915.3_Missense_Mutation_p.L4100M|MACF1_ENST00000361689.2_Missense_Mutation_p.L2033M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2033M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4100					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCCTATAGCCTGGCTGAGCG	0.448													False	0	False	1:39826503	0	A	39826503	C	A	39826503	3	1	88	1	0	0	0	0	1	0	0	0	9207	680	24	3	12418	3	MACF1	1	39826503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25008	39826503	209424118	466	8178											
MACF1	23499	broad.mit.edu	37	chr1	39826575	39826575	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaggaaagcctggagagcCtgttgcagtctattggggaa	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39826575C>A	ENST00000564288.1	+	48	13132	c.12355C>A	c.(12355-12357)Ctg>Atg	p.L4119M	MACF1_ENST00000567887.1_Missense_Mutation_p.L4156M|MACF1_ENST00000545844.1_Missense_Mutation_p.L2057M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.L2057M|MACF1_ENST00000289893.4_Missense_Mutation_p.L2559M|MACF1_ENST00000372915.3_Missense_Mutation_p.L4124M|MACF1_ENST00000361689.2_Missense_Mutation_p.L2057M|MACF1_ENST00000317713.7_Missense_Mutation_p.L2057M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4124				E -> D (in Ref. 1; BAA83821).	cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTGGAGAGCCTGTTGCAGTC	0.507													False	0	False	1:39826575	0	A	39826575	C	A	39826575	3	1	88	1	0	0	0	0	1	0	0	0	9207	680	24	3	12490	3	MACF1	1	39826575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72	39826575	209424046	467	8179											
MACF1	23499	broad.mit.edu	37	chr1	39851413	39851413	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcacccaaccagaggctgTaaagcagcaattggaagaga	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39851413T>C	ENST00000564288.1	+	57	14933	c.14156T>C	c.(14155-14157)gTa>gCa	p.V4719A	MACF1_ENST00000567887.1_Missense_Mutation_p.V4756A|MACF1_ENST00000545844.1_Missense_Mutation_p.V2657A|MACF1_ENST00000539005.1_Missense_Mutation_p.V2636A|MACF1_ENST00000289893.4_Missense_Mutation_p.V3159A|MACF1_ENST00000372915.3_Missense_Mutation_p.V4724A|MACF1_ENST00000361689.2_Missense_Mutation_p.V2657A|MACF1_ENST00000317713.7_Missense_Mutation_p.V2657A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4724					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAGGCTGTAAAGCAGCAA	0.517													False	0	True	1:39851413	0	C	39851413	T	C	39851413	3	2	88	1	0	0	0	0	1	0	0	0	9207	1638	57	4	14327	4	MACF1	1	39851413	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24838	39851413	209399208	468	8180											
MACF1	23499	broad.mit.edu	37	chr1	39851459	39851459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaattcgatctgacttggaGcagttagaccacgaggttaa	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39851459G>A	ENST00000564288.1	+	57	14979	c.14202G>A	c.(14200-14202)gaG>gaA	p.E4734E	MACF1_ENST00000567887.1_Silent_p.E4771E|MACF1_ENST00000545844.1_Silent_p.E2672E|MACF1_ENST00000539005.1_Silent_p.E2651E|MACF1_ENST00000289893.4_Silent_p.E3174E|MACF1_ENST00000372915.3_Silent_p.E4739E|MACF1_ENST00000361689.2_Silent_p.E2672E|MACF1_ENST00000317713.7_Silent_p.E2672E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4739					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGACTTGGAGCAGTTAGACC	0.502													False	0	False	1:39851459	0	A	39851459	G	A	39851459	2	1	88	1	0	0	0	0	0	0	0	1	9207	962	34	2		2	MACF1	1	39851459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46	39851459	209399162	469	8181											
MACF1	23499	broad.mit.edu	37	chr1	39893757	39893757	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaaaagatagactcatTgcaggcccgatacagtgaaa	10	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39893757T>G	ENST00000564288.1	+	63	17378	c.16601T>G	c.(16600-16602)tTg>tGg	p.L5534W	MACF1_ENST00000567887.1_Missense_Mutation_p.L5571W|MACF1_ENST00000545844.1_Missense_Mutation_p.L3472W|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L3974W|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Missense_Mutation_p.L3472W|MACF1_ENST00000317713.7_Missense_Mutation_p.L3472W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5539					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATAGACTCATTGCAGGCCCGA	0.522													False	0	False	1:39893757	0	G	39893757	T	G	39893757	3	3	88	1	0	0	0	0	1	0	0	0	9207	1821	63	4	16796	4	MACF1	1	39893757	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42298	39893757	209356864	470	8182											
MACF1	23499	broad.mit.edu	37	chr1	39896528	39896528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtacaaactagtcagtgacaCtattggacaaagggtggatg	12	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39896528C>A	ENST00000564288.1	+	66	18062	c.17285C>A	c.(17284-17286)aCt>aAt	p.T5762N	MACF1_ENST00000567887.1_Missense_Mutation_p.T5799N|MACF1_ENST00000545844.1_Missense_Mutation_p.T3700N|MACF1_ENST00000539005.1_Missense_Mutation_p.T3570N|MACF1_ENST00000289893.4_Missense_Mutation_p.T4202N|MACF1_ENST00000372915.3_Missense_Mutation_p.T5658N|MACF1_ENST00000361689.2_Missense_Mutation_p.T3700N|MACF1_ENST00000317713.7_Missense_Mutation_p.T3700N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5767					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCAGTGACACTATTGGACAA	0.438													False	0	False	1:39896528	0	A	39896528	C	A	39896528	3	1	88	1	0	0	0	0	1	0	0	0	9207	565	20	3	17492	3	MACF1	1	39896528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2771	39896528	209354093	471	8183											
MACF1	23499	broad.mit.edu	37	chr1	39904950	39904950	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttttaacctcctcagaaatCcaggataaattggatcaaat	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39904950C>A	ENST00000564288.1	+	72	19002	c.18225C>A	c.(18223-18225)atC>atA	p.I6075I	MACF1_ENST00000567887.1_Silent_p.I6112I|MACF1_ENST00000545844.1_Silent_p.I4016I|MACF1_ENST00000539005.1_Silent_p.I3886I|MACF1_ENST00000289893.4_Silent_p.I4518I|MACF1_ENST00000372915.3_Silent_p.I5974I|MACF1_ENST00000361689.2_Silent_p.I4016I|MACF1_ENST00000317713.7_Silent_p.I4016I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6083					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTCAGAAATCCAGGATAAAT	0.373													False	0	False	1:39904950	0	A	39904950	C	A	39904950	2	1	88	1	0	0	0	0	0	0	0	1	9207	845	30	3		3	MACF1	1	39904950	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8422	39904950	209345671	472	8184											
MACF1	23499	broad.mit.edu	37	chr1	39910396	39910396	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caactacttgacaagggcagActcatgcttctaagccgtga	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39910396A>G	ENST00000564288.1	+	80	20271	c.19494A>G	c.(19492-19494)agA>agG	p.R6498R	MACF1_ENST00000567887.1_Silent_p.R6535R|MACF1_ENST00000545844.1_Silent_p.R4439R|MACF1_ENST00000539005.1_Silent_p.R4309R|MACF1_ENST00000289893.4_Silent_p.R4941R|MACF1_ENST00000372915.3_Silent_p.R6397R|MACF1_ENST00000361689.2_Silent_p.R4439R|MACF1_ENST00000317713.7_Silent_p.R4439R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6508					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAAGGGCAGACTCATGCTTC	0.458													False	0	False	1:39910396	0	G	39910396	A	G	39910396	2	3	88	1	0	0	0	0	0	0	0	1	9207	272	10	4		4	MACF1	1	39910396	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5446	39910396	209340225	473	8185											
MACF1	23499	broad.mit.edu	37	chr1	39926355	39926355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaggaaaaagtatatgCgttggatgaatcacaaaaag	11	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39926355C>T	ENST00000564288.1	+	92	22189	c.21412C>T	c.(21412-21414)Cgt>Tgt	p.R7138C	MACF1_ENST00000567887.1_Missense_Mutation_p.R7175C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5079C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4949C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5581C|MACF1_ENST00000372915.3_Missense_Mutation_p.R7037C|MACF1_ENST00000361689.2_Missense_Mutation_p.R5079C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5079C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7037	C-terminal tail (By similarity).|GAR.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGTATATGCGTTGGATGAA	0.398													False	0	False	1:39926355	0	T	39926355	C	T	39926355	3	4	88	1	0	0	0	0	1	0	0	0	9207	768	27	1	21736	1	MACF1	1	39926355	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15959	39926355	209324266	474	8186											
MACF1	23499	broad.mit.edu	37	chr1	39945590	39945590	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accatcttcccgggcagcttCccctactcgttccagctcca	6	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39945590C>A	ENST00000564288.1	+	98	22856	c.22079C>A	c.(22078-22080)tCc>tAc	p.S7360Y	MACF1_ENST00000567887.1_Missense_Mutation_p.S7397Y|MACF1_ENST00000545844.1_Missense_Mutation_p.S5272Y|MACF1_ENST00000539005.1_Missense_Mutation_p.S5142Y|MACF1_ENST00000289893.4_Missense_Mutation_p.S5780Y|MACF1_ENST00000372915.3_Missense_Mutation_p.S7230Y|MACF1_ENST00000361689.2_Missense_Mutation_p.S5272Y|MACF1_ENST00000317713.7_Missense_Mutation_p.S5272Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7230	C-terminal tail (By similarity).				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGGGCAGCTTCCCCTACTCGT	0.552													False	0	True	1:39945590	0	A	39945590	C	A	39945590	3	1	88	1	0	0	0	0	1	0	0	0	9207	855	30	3	22354	3	MACF1	1	39945590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19235	39945590	209305031	475	8187											
MACF1	23499	broad.mit.edu	37	chr1	39950279	39950279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattttttttaaggttatcCcatcatcaggtagcaagttg	7	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39950279C>T	ENST00000564288.1	+	100	23065	c.22288C>T	c.(22288-22290)Cca>Tca	p.P7430S	MACF1_ENST00000567887.1_Missense_Mutation_p.P7467S|MACF1_ENST00000545844.1_Missense_Mutation_p.P5305S|MACF1_ENST00000539005.1_Missense_Mutation_p.P5175S|MACF1_ENST00000289893.4_Missense_Mutation_p.P5813S|MACF1_ENST00000372915.3_Missense_Mutation_p.P7263S|MACF1_ENST00000361689.2_Missense_Mutation_p.P5305S|MACF1_ENST00000317713.7_Missense_Mutation_p.P5305S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7263					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAGGTTATCCCATCATCAGG	0.388													False	0	True	1:39950279	0	T	39950279	C	T	39950279	3	4	88	1	0	0	0	0	1	0	0	0	9207	623	22	2	22456	2	MACF1	1	39950279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4689	39950279	209300342	476	8188											
HPCAL4	51440	broad.mit.edu	37	chr1	40150155	40150155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccaggttgaggatgcCgctggggcagtccttcagga	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40150155C>T	ENST00000372844.3	-	2	512	c.121G>A	c.(121-123)Ggc>Agc	p.G41S		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	41	EF-hand 1.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGAGGATGCCGCTGGGGCAG	0.622													False	0	False	1:40150155	0	T	40150155	C	T	40150155	3	4	88	1	0	0	0	0	1	0	0	0	7378	652	23	1	466	1	HPCAL4	1	40150155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199876	40150155	209100466	477	8189											
BMP8B	656	broad.mit.edu	37	chr1	40229424	40229424	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgacgtagagctcgtgcCgacggcagacctgccggccg	15	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40229424C>T	ENST00000372827.3	-	5	1283	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	BMP8B_ENST00000397360.2_Missense_Mutation_p.R328Q|PPIE_ENST00000356511.2_3'UTR|PPIE_ENST00000372830.1_3'UTR	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	303					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGCTCGTGCCGACGGCAGAC	0.557													False	0	False	1:40229424	0	T	40229424	C	T	40229424	3	4	88	1	0	0	0	0	1	0	0	0	1472	652	23	1	312	1	BMP8B	1	40229424	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79269	40229424	209021197	478	8190											
TRIT1	54802	broad.mit.edu	37	chr1	40309819	40309819	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcgatcacagaggtcacaCaggtgataacttctcttgtt	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40309819C>A	ENST00000316891.5	-	10	1202	c.1188G>T	c.(1186-1188)ctG>ctT	p.L396L	TRIT1_ENST00000372818.1_Silent_p.L370L|TRIT1_ENST00000541099.1_Silent_p.L14L|TRIT1_ENST00000545233.1_Silent_p.L150L|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000537440.1_Silent_p.L92L|TRIT1_ENST00000537223.1_Silent_p.L92L|TRIT1_ENST00000441669.2_Silent_p.L314L	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	396					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGAGGTCACACAGGTGATAAC	0.468													False	0	True	1:40309819	0	A	40309819	C	A	40309819	2	1	88	1	0	0	0	0	0	0	0	1	16643	465	17	3		3	TRIT1	1	40309819	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80395	40309819	208940802	479	8191											
RLF	6018	broad.mit.edu	37	chr1	40702892	40702892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acataaagaaatcagtgaaaCttgaggagtctgcaacaggt	10	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40702892C>A	ENST00000372771.4	+	8	2545	c.2518C>A	c.(2518-2520)Ctt>Att	p.L840I		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	840					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATCAGTGAAACTTGAGGAGTC	0.348													False	0	True	1:40702892	0	A	40702892	C	A	40702892	3	1	88	1	0	0	0	0	1	0	0	0	13468	565	20	3	2548	3	RLF	1	40702892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	393073	40702892	208547729	480	8192											
TMCO2	127391	broad.mit.edu	37	chr1	40716992	40716992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcacactctacaaactttAcaagaagggctcacatattt	4	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40716992A>G	ENST00000372766.3	+	2	368	c.275A>G	c.(274-276)tAc>tGc	p.Y92C	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	92						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TACAAACTTTACAAGAAGGGC	0.368													False	0	True	1:40716992	0	G	40716992	A	G	40716992	3	3	88	1	0	0	0	0	1	0	0	0	16078	391	14	4	281	4	TMCO2	1	40716992	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14100	40716992	208533629	481	8193											
ZMPSTE24	10269	broad.mit.edu	37	chr1	40735717	40735717	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgtattttgttgcctgtgtCttcacttctactttacatta	6	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40735717C>A	ENST00000372759.3	+	5	710	c.545C>A	c.(544-546)tCt>tAt	p.S182Y		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	182						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTGCCTGTGTCTTCACTTCTA	0.338													False	0	False	1:40735717	0	A	40735717	C	A	40735717	3	1	88	1	0	0	0	0	1	0	0	0	17781	913	32	3	563	3	ZMPSTE24	1	40735717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18725	40735717	208514904	482	8194											
ZMPSTE24	10269	broad.mit.edu	37	chr1	40747106	40747106	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacactctactagaagagtaCtctgtactaaacaaagacat	6	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40747106C>A	ENST00000372759.3	+	7	1026	c.861C>A	c.(859-861)taC>taA	p.Y287*		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	287						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TAGAAGAGTACTCTGTACTAA	0.393													False	0	False	1:40747106	0	A	40747106	C	A	40747106	4	1	88	1	0	0	0	0	0	1	0	0	17781	576	20	3	887	3	ZMPSTE24	1	40747106	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11389	40747106	208503515	483	8195											
SMAP2	64744	broad.mit.edu	37	chr1	40874336	40874336	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtcacagtgcatgcaagaGatgggaaatggaaaggcaaa	14	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40874336G>A	ENST00000539317.1	+	3	202	c.9G>A	c.(7-9)gaG>gaA	p.E3E		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	83					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GCATGCAAGAGATGGGAAATG	0.428													False	0	False	1:40874336	0	A	40874336	G	A	40874336	2	1	88	1	0	0	0	0	0	0	0	1	14847	933	33	2		2	SMAP2	1	40874336	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127230	40874336	208376285	484	8196											
NFYC	4802	broad.mit.edu	37	chr1	41223914	41223914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagaccaccagctccaCgaccaccatccagcctgggc	8	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41223914C>T	ENST00000372652.1	+	6	777	c.509C>T	c.(508-510)aCg>aTg	p.T170M	NFYC_ENST00000372651.1_Missense_Mutation_p.T170M|NFYC_ENST00000372653.1_Missense_Mutation_p.T170M|NFYC_ENST00000447388.3_Missense_Mutation_p.T170M|NFYC_ENST00000425457.2_Missense_Mutation_p.T170M|NFYC_ENST00000372654.1_Missense_Mutation_p.T170M|NFYC_ENST00000427410.2_Missense_Mutation_p.T132M|NFYC_ENST00000308733.5_Missense_Mutation_p.T170M|NFYC_ENST00000440226.3_Missense_Mutation_p.T170M|NFYC_ENST00000456393.2_Missense_Mutation_p.T170M			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	170					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ACCAGCTCCACGACCACCATC	0.617													False	0	False	1:41223914	0	T	41223914	C	T	41223914	3	4	88	1	0	0	0	0	1	0	0	0	10459	536	19	1	527	1	NFYC	1	41223914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	349578	41223914	208026707	485	8197											
KCNQ4	9132	broad.mit.edu	37	chr1	41284339	41284339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgggctcagtggtctAcgcgcatagcaaggtgaggc	16	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41284339A>G	ENST00000347132.5	+	4	777	c.695A>G	c.(694-696)tAc>tGc	p.Y232C	KCNQ4_ENST00000509682.2_Missense_Mutation_p.Y232C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	232					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCAGTGGTCTACGCGCATAGC	0.711													False	0	False	1:41284339	0	G	41284339	A	G	41284339	3	3	88	1	0	0	0	0	1	0	0	0	8135	391	14	4	709	4	KCNQ4	1	41284339	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60425	41284339	207966282	486	8198											
SLFNL1	200172	broad.mit.edu	37	chr1	41482929	41482929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaccactcctggatggCgctggcagacagcgggccct	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41482929C>T	ENST00000359345.1	-	3	3654	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T	SLFNL1_ENST00000372613.2_Intron|SLFNL1_ENST00000439569.2_Missense_Mutation_p.A360T|SLFNL1_ENST00000372611.1_Missense_Mutation_p.A301T|SLFNL1_ENST00000397197.2_Intron|SLFNL1_ENST00000302946.8_Missense_Mutation_p.A360T	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	360							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TCCTGGATGGCGCTGGCAGAC	0.682													False	0	False	1:41482929	0	T	41482929	C	T	41482929	3	4	88	1	0	0	0	0	1	0	0	0	14818	768	27	1	153	1	SLFNL1	1	41482929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198590	41482929	207767692	487	8199											
HIVEP3	59269	broad.mit.edu	37	chr1	41976832	41976832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgttctcctctgtccGggccaggatgtggccgtgga	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41976832G>A	ENST00000372584.1	-	8	7522	c.6508C>T	c.(6508-6510)Cgg>Tgg	p.R2170W	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R2171W|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R2170W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R2171W	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2171					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCCTCTGTCCGGGCCAGGATG	0.637													False	0	True	1:41976832	0	A	41976832	G	A	41976832	3	1	88	1	0	0	0	0	1	0	0	0	7235	1115	39	1	713	1	HIVEP3	1	41976832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493903	41976832	207273789	488	8200											
HIVEP3	59269	broad.mit.edu	37	chr1	41990569	41990569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacatatacatactcttcGtttgatttgtacctatgagc	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41990569G>A	ENST00000372584.1	-	5	6234	c.5220C>T	c.(5218-5220)aaC>aaT	p.N1740N	HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000372583.1_Silent_p.N1740N|HIVEP3_ENST00000429157.2_Silent_p.N1740N|HIVEP3_ENST00000247584.5_Silent_p.N1740N	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1740					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CATACTCTTCGTTTGATTTGT	0.488													False	0	True	1:41990569	0	A	41990569	G	A	41990569	2	1	88	1	0	0	0	0	0	0	0	1	7235	1136	40	1		1	HIVEP3	1	41990569	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13737	41990569	207260052	489	8201											
HIVEP3	59269	broad.mit.edu	37	chr1	42045931	42045931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcagggtgagggaggggaGgaatttcctttgtgtcagat	17	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42045931G>T	ENST00000372584.1	-	3	5552	c.4538C>A	c.(4537-4539)cCt>cAt	p.P1513H	HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1513H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1513					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGGAGGGGAGGAATTTCCTT	0.557													False	0	True	1:42045931	0	T	42045931	G	T	42045931	3	4	88	1	0	0	0	0	1	0	0	0	7235	1000	35	3	2706	3	HIVEP3	1	42045931	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55362	42045931	207204690	490	8202											
HIVEP3	59269	broad.mit.edu	37	chr1	42048565	42048565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccccttttgttttcaaaCccttcttggtctttttggta	5	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42048565C>T	ENST00000372584.1	-	3	2918	c.1904G>A	c.(1903-1905)gGt>gAt	p.G635D	HIVEP3_ENST00000372583.1_Missense_Mutation_p.G635D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G635D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G635D	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	635	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTTTTCAAACCCTTCTTGGT	0.478													False	0	True	1:42048565	0	T	42048565	C	T	42048565	3	4	88	1	0	0	0	0	1	0	0	0	7235	507	18	2	5340	2	HIVEP3	1	42048565	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2634	42048565	207202056	491	8203											
HIVEP3	59269	broad.mit.edu	37	chr1	42049369	42049369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttcctctcgcttaagCggagggccagcttctgctta	9	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42049369C>T	ENST00000372584.1	-	3	2114	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	HIVEP3_ENST00000372583.1_Missense_Mutation_p.R367H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R367H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R367H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	367	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCGCTTAAGCGGAGGGCCAG	0.552													False	0	False	1:42049369	0	T	42049369	C	T	42049369	3	4	88	1	0	0	0	0	1	0	0	0	7235	768	27	1	6144	1	HIVEP3	1	42049369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	804	42049369	207201252	492	8204											
FOXJ3	22887	broad.mit.edu	37	chr1	42744089	42744089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgataaatttcacttaaaGtcattttctttttgggtgag	7	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42744089G>T	ENST00000372572.1	-	5	610	c.299C>A	c.(298-300)aCt>aAt	p.T100N	FOXJ3_ENST00000361346.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000372573.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000361776.1_Missense_Mutation_p.T100N|FOXJ3_ENST00000545068.1_Missense_Mutation_p.T100N	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	100					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCACTTAAAGTCATTTTCTT	0.358													False	0	True	1:42744089	0	T	42744089	G	T	42744089	3	4	88	1	0	0	0	0	1	0	0	0	6055	1029	36	3	1613	3	FOXJ3	1	42744089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	694720	42744089	206506532	493	8205											
RIMKLA	284716	broad.mit.edu	37	chr1	42875661	42875661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttcttaaaggaaaagCtgtttttctggcaagagata	8	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42875661C>A	ENST00000431473.3	+	4	617	c.488C>A	c.(487-489)gCt>gAt	p.A163D		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	163	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						AAAGGAAAAGCTGTTTTTCTG	0.468													False	0	False	1:42875661	0	A	42875661	C	A	42875661	3	1	88	1	0	0	0	0	1	0	0	0	13444	797	28	3	502	3	RIMKLA	1	42875661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131572	42875661	206374960	494	8206											
LEPRE1	64175	broad.mit.edu	37	chr1	43213012	43213012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctgccccctggtgacagcCttcactccatgtgggttttc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43213012C>A	ENST00000236040.4	-	14	2026	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_Missense_Mutation_p.K662N|LEPRE1_ENST00000296388.5_Missense_Mutation_p.K662N	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	662	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGTGACAGCCTTCACTCCAT	0.627											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:43213012	0	A	43213012	C	A	43213012	3	1	88	1	0	0	0	0	1	0	0	0	8780	680	24	3	251	3	LEPRE1	1	43213012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	337351	43213012	206037609	495	8207											
LEPRE1	64175	broad.mit.edu	37	chr1	43213396	43213396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacaagggagcactcaccgTcacggtcttggcatccagtt	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43213396T>C	ENST00000236040.4	-	13	1952	c.1912A>G	c.(1912-1914)Acg>Gcg	p.T638A	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_Missense_Mutation_p.T638A|LEPRE1_ENST00000296388.5_Missense_Mutation_p.T638A	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	638	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCACTCACCGTCACGGTCTTG	0.473											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:43213396	0	C	43213396	T	C	43213396	3	2	88	1	0	0	0	0	1	0	0	0	8780	1667	58	4	329	4	LEPRE1	1	43213396	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	384	43213396	206037225	496	8208											
ERMAP	114625	broad.mit.edu	37	chr1	43296571	43296571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtccccattcccgcagcGctcccaggctgttcacatat	9	17	1	0	rs146247630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43296571G>A	ENST00000372517.2	+	4	462	c.218G>A	c.(217-219)cGc>cAc	p.R73H	ERMAP_ENST00000328249.3_5'UTR|ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Missense_Mutation_p.R73H	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	73	Ig-like V-type.					integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCCCGCAGCGCTCCCAGGCT	0.622													False	0	False	1:43296571	0	A	43296571	G	A	43296571	3	1	88	1	0	0	0	0	1	0	0	0	5266	1087	38	1	224	1	ERMAP	1	43296571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83175	43296571	205954050	497	8209											
SLC2A1	6513	broad.mit.edu	37	chr1	43394659	43394659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgccatgccagcgaggcCtatgaggtgcagggtccgcc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43394659C>T	ENST00000426263.3	-	8	1196	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	340					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCAGCGAGGCCTATGAGGTGC	0.612													False	0	False	1:43394659	0	T	43394659	C	T	43394659	3	4	88	1	0	0	0	0	1	0	0	0	14618	681	24	2	472	2	SLC2A1	1	43394659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98088	43394659	205855962	498	8210											
SLC2A1	6513	broad.mit.edu	37	chr1	43395385	43395385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcccgcatcatctgcCgactctcttccttcatctcc	3	19	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43395385C>T	ENST00000426263.3	-	6	924	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	249					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CATCATCTGCCGACTCTCTTC	0.627													False	0	False	1:43395385	0	T	43395385	C	T	43395385	3	4	88	1	0	0	0	0	1	0	0	0	14618	652	23	1	752	1	SLC2A1	1	43395385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	726	43395385	205855236	499	8211											
SLC2A1	6513	broad.mit.edu	37	chr1	43396482	43396482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgcccagtttcgagaagcCcatgagcacggcggacacga	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43396482C>A	ENST00000426263.3	-	4	509	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	SLC2A1_ENST00000415851.2_Missense_Mutation_p.G111C|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Missense_Mutation_p.G111C	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	111					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TTCGAGAAGCCCATGAGCACG	0.587													False	0	True	1:43396482	0	A	43396482	C	A	43396482	3	1	88	1	0	0	0	0	1	0	0	0	14618	623	22	3	1175	3	SLC2A1	1	43396482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1097	43396482	205854139	500	8212											
TMEM125	128218	broad.mit.edu	37	chr1	43738921	43738921	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtgtgagcggacactgCccctccatctgtatggccac	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43738921C>A	ENST00000432792.2	+	4	1098	c.528C>A	c.(526-528)tgC>tgA	p.C176*	TMEM125_ENST00000439858.1_Nonsense_Mutation_p.C176*			Q96AQ2	TM125_HUMAN	transmembrane protein 125	176						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGGACACTGCCCCTCCATCT	0.632													False	0	True	1:43738921	0	A	43738921	C	A	43738921	4	1	88	1	0	0	0	0	0	1	0	0	16119	747	26	3	530	3	TMEM125	1	43738921	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	342439	43738921	205511700	501	8213											
C1orf210	149466	broad.mit.edu	37	chr1	43748499	43748499	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccctctgtccccagctcgCcagtcccaggctgaatgtaa	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43748499C>A	ENST00000523677.1	-	3	532	c.299G>T	c.(298-300)gGc>gTc	p.G100V	C1orf210_ENST00000423420.1_Missense_Mutation_p.G100V	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	100						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCCAGCTCGCCAGTCCCAGG	0.592													False	0	False	1:43748499	0	A	43748499	C	A	43748499	3	1	88	1	0	0	0	0	1	0	0	0	2045	739	26	3	46	3	C1orf210	1	43748499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9578	43748499	205502122	502	8214											
TIE1	7075	broad.mit.edu	37	chr1	43774659	43774659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtcctttctccccagacCggatcccccagatcctcaac	6	18	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43774659C>T	ENST00000372476.3	+	8	1124	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	349					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCCCCAGACCGGATCCCCCA	0.587													False	0	False	1:43774659	0	T	43774659	C	T	43774659	3	4	88	1	0	0	0	0	1	0	0	0	15975	643	23	1	1075	1	TIE1	1	43774659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26160	43774659	205475962	503	8215											
TIE1	7075	broad.mit.edu	37	chr1	43777353	43777353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggcagtgccccccgtgCccctggctgcacctcggctc	11	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43777353C>T	ENST00000372476.3	+	10	1424	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	TIE1_ENST00000433781.2_Missense_Mutation_p.P94S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	449	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCCCCGTGCCCCTGGCTGC	0.627													False	0	True	1:43777353	0	T	43777353	C	T	43777353	3	4	88	1	0	0	0	0	1	0	0	0	15975	739	26	2	1383	2	TIE1	1	43777353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2694	43777353	205473268	504	8216											
TIE1	7075	broad.mit.edu	37	chr1	43779499	43779499	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgggcagctgaagagggcCtggatcagcagctgatcctg	16	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43779499C>A	ENST00000372476.3	+	14	2348	c.2269C>A	c.(2269-2271)Ctg>Atg	p.L757M	TIE1_ENST00000433781.2_Missense_Mutation_p.L402M|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	757					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAAGAGGGCCTGGATCAGCA	0.642													False	0	False	1:43779499	0	A	43779499	C	A	43779499	3	1	88	1	0	0	0	0	1	0	0	0	15975	680	24	3	2323	3	TIE1	1	43779499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2146	43779499	205471122	505	8217											
MED8	112950	broad.mit.edu	37	chr1	43853238	43853238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctggttacggaacagcGgtgttttttcatgcttcaag	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43853238G>A	ENST00000372457.4	-	3	249	c.206C>T	c.(205-207)cCg>cTg	p.P69L	RP1-92O14.6_ENST00000436713.1_RNA|MED8_ENST00000290663.6_Missense_Mutation_p.P69L|MED8_ENST00000372455.4_5'UTR	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	69					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGGAACAGCGGTGTTTTTTC	0.463													False	0	False	1:43853238	0	A	43853238	G	A	43853238	3	1	88	1	0	0	0	0	1	0	0	0	9520	1116	39	1	727	1	MED8	1	43853238	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73739	43853238	205397383	506	8218											
PTPRF	5792	broad.mit.edu	37	chr1	44056764	44056764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatccagtaccgcgcagcGggcacggagggcccctttca	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44056764G>A	ENST00000359947.4	+	9	1411	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	PTPRF_ENST00000438120.1_Silent_p.A357A|PTPRF_ENST00000372414.3_Silent_p.A357A|PTPRF_ENST00000372413.3_Silent_p.A357A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	357	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCGCGCAGCGGGCACGGAGG	0.612													False	0	True	1:44056764	0	A	44056764	G	A	44056764	2	1	88	1	0	0	0	0	0	0	0	1	12880	1103	39	1		1	PTPRF	1	44056764	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203526	44056764	205193857	507	8219											
PTPRF	5792	broad.mit.edu	37	chr1	44056913	44056913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgaggcagtgcgggcacGcacgggagaacaggcgccct	17	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44056913G>A	ENST00000359947.4	+	9	1560	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	PTPRF_ENST00000438120.1_Missense_Mutation_p.R407H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R407H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R407H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	407	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGCGGGCACGCACGGGAGAA	0.701													False	0	True	1:44056913	0	A	44056913	G	A	44056913	3	1	88	1	0	0	0	0	1	0	0	0	12880	1087	38	1	1246	1	PTPRF	1	44056913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	44056913	205193708	508	8220											
PTPRF	5792	broad.mit.edu	37	chr1	44070974	44070974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgaaccgtggcagcagCgcagggggcctgcagcacct	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44070974C>T	ENST00000359947.4	+	18	3589	c.3249C>T	c.(3247-3249)agC>agT	p.S1083S	PTPRF_ENST00000438120.1_Silent_p.S1074S|PTPRF_ENST00000372414.3_Silent_p.S1083S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.S1074S|PTPRF_ENST00000422171.2_Silent_p.S431S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1083	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGGCAGCAGCGCAGGGGGCC	0.647													False	0	False	1:44070974	0	T	44070974	C	T	44070974	2	4	88	1	0	0	0	0	0	0	0	1	12880	767	27	1		1	PTPRF	1	44070974	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14061	44070974	205179647	509	8221											
PTPRF	5792	broad.mit.edu	37	chr1	44071037	44071037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctcctgcctcacaagccGctgcctgcctctgcctacat	7	19	2	0	rs149446507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44071037G>A	ENST00000359947.4	+	18	3652	c.3312G>A	c.(3310-3312)ccG>ccA	p.P1104P	PTPRF_ENST00000438120.1_Silent_p.P1095P|PTPRF_ENST00000372414.3_Silent_p.P1104P|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.P1095P|PTPRF_ENST00000422171.2_Silent_p.P452P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1104					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTCACAAGCCGCTGCCTGCCT	0.637													False	0	True	1:44071037	0	A	44071037	G	A	44071037	2	1	88	1	0	0	0	0	0	0	0	1	12880	1074	38	1		1	PTPRF	1	44071037	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	44071037	205179584	510	8222											
PTPRF	5792	broad.mit.edu	37	chr1	44085236	44085236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgaccgccatggagctcGagttcaaggtggggctcggg	18	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44085236G>A	ENST00000359947.4	+	28	5264	c.4924G>A	c.(4924-4926)Gag>Aag	p.E1642K	PTPRF_ENST00000438120.1_Missense_Mutation_p.E1633K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1642K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1633K|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1001K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1642	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATGGAGCTCGAGTTCAAGGT	0.652													False	0	False	1:44085236	0	A	44085236	G	A	44085236	3	1	88	1	0	0	0	0	1	0	0	0	12880	1059	37	1	5026	1	PTPRF	1	44085236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14199	44085236	205165385	511	8223											
KDM4A	9682	broad.mit.edu	37	chr1	44149434	44149434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctttaagcaagctcccccGccatcacccacttgtgctgc	7	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44149434G>A	ENST00000372396.3	+	12	1948	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	605	Interaction with NCOR1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AAGCTCCCCCGCCATCACCCA	0.478													False	0	True	1:44149434	0	A	44149434	G	A	44149434	3	1	88	1	0	0	0	0	1	0	0	0	8178	1087	38	1	1856	1	KDM4A	1	44149434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64198	44149434	205101187	512	8224											
KDM4A	9682	broad.mit.edu	37	chr1	44163605	44163605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaccagtgtgaagtggtcaGgctcaccaccgagaccttct	10	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44163605G>T	ENST00000372396.3	+	19	2896	c.2762G>T	c.(2761-2763)aGg>aTg	p.R921M		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	921	Tudor 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAAGTGGTCAGGCTCACCACC	0.493													False	0	False	1:44163605	0	T	44163605	G	T	44163605	3	4	88	1	0	0	0	0	1	0	0	0	8178	1000	35	3	2832	3	KDM4A	1	44163605	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14171	44163605	205087016	513	8225											
KDM4A	9682	broad.mit.edu	37	chr1	44163674	44163674	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgacaatctttatcctgAggacatagtggtaatatctg	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44163674A>C	ENST00000372396.3	+	19	2965	c.2831A>C	c.(2830-2832)gAg>gCg	p.E944A		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	944	Tudor 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CTTTATCCTGAGGACATAGTG	0.498													False	0	False	1:44163674	0	C	44163674	A	C	44163674	3	2	88	1	0	0	0	0	1	0	0	0	8178	304	11	4	2901	4	KDM4A	1	44163674	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69	44163674	205086947	514	8226											
IPO13	9670	broad.mit.edu	37	chr1	44425977	44425977	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggtgctgagcaaatgGttgaatgatgcccaggttgt	14	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44425977G>A	ENST00000372343.3	+	12	2747	c.2085G>A	c.(2083-2085)tgG>tgA	p.W695*		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	695					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGAGCAAATGGTTGAATGATG	0.552													False	0	False	1:44425977	0	A	44425977	G	A	44425977	4	1	88	1	0	0	0	0	0	1	0	0	7844	1270	44	2	2131	2	IPO13	1	44425977	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262303	44425977	204824644	515	8227											
KLF17	128209	broad.mit.edu	37	chr1	44595120	44595120	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaggcctaccaagcattcaGcactttcctcacagcgcaga	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44595120G>T	ENST00000372299.3	+	2	235	c.177G>T	c.(175-177)caG>caT	p.Q59H	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	59					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CAAGCATTCAGCACTTTCCTC	0.547													False	0	False	1:44595120	0	T	44595120	G	T	44595120	3	4	88	1	0	0	0	0	1	0	0	0	8395	962	34	3	183	3	KLF17	1	44595120	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169143	44595120	204655501	516	8228											
KLF17	128209	broad.mit.edu	37	chr1	44595709	44595709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttctaccagagcagcccGgacctgctccacagacagta	8	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44595709G>A	ENST00000372299.3	+	2	824	c.766G>A	c.(766-768)Gga>Aga	p.G256R	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	256					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGAGCAGCCCGGACCTGCTCC	0.557													False	0	True	1:44595709	0	A	44595709	G	A	44595709	3	1	88	1	0	0	0	0	1	0	0	0	8395	1117	39	1	772	1	KLF17	1	44595709	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	589	44595709	204654912	517	8229											
DMAP1	55929	broad.mit.edu	37	chr1	44684367	44684367	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagataccagtatttgatgcTgggcacgaacgacggcggaa	13	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44684367T>C	ENST00000372289.2	+	5	923	c.660T>C	c.(658-660)gcT>gcC	p.A220A	DMAP1_ENST00000361745.6_Silent_p.A220A|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Silent_p.A220A	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	220					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TATTTGATGCTGGGCACGAAC	0.567											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:44684367	0	C	44684367	T	C	44684367	2	2	88	1	0	0	0	0	0	0	0	1	4606	1567	55	4		4	DMAP1	1	44684367	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88658	44684367	204566254	518	8230											
RNF220	55182	broad.mit.edu	37	chr1	45079892	45079892	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccccaatttgccccatctgCcaggtcctgctgaggcccag	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45079892C>A	ENST00000355387.2	+	3	1131	c.681C>A	c.(679-681)tgC>tgA	p.C227*	RNF220_ENST00000361799.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000372247.2_Nonsense_Mutation_p.C227*|RNF220_ENST00000443020.2_5'UTR			Q5VTB9	RN220_HUMAN	ring finger protein 220	227					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCCCCATCTGCCAGGTCCTGC	0.592													False	0	False	1:45079892	0	A	45079892	C	A	45079892	4	1	88	1	0	0	0	0	0	1	0	0	13562	747	26	3	687	3	RNF220	1	45079892	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	395525	45079892	204170729	519	8231											
RNF220	55182	broad.mit.edu	37	chr1	45111149	45111149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagacctgcaagaacagCgacatcgagaagtaagtgtt	11	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45111149C>T	ENST00000355387.2	+	12	1884	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000361799.2_Silent_p.S478S|RNF220_ENST00000372247.2_Silent_p.S478S|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000443020.2_Silent_p.S265S|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000480686.1_3'UTR			Q5VTB9	RN220_HUMAN	ring finger protein 220	478					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCAAGAACAGCGACATCGAGA	0.592													False	0	False	1:45111149	0	T	45111149	C	T	45111149	2	4	88	1	0	0	0	0	0	0	0	1	13562	767	27	1		1	RNF220	1	45111149	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31257	45111149	204139472	520	8232											
BEST4	266675	broad.mit.edu	37	chr1	45253349	45253349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctccgaagcgggcctccGccactttgagagtgtatgaa	11	12	0	2	rs16832247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45253349G>A	ENST00000372207.3	-	1	28	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	10						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCGGGCCTCCGCCACTTTGAG	0.572													False	0	False	1:45253349	0	A	45253349	G	A	45253349	3	1	88	1	0	0	0	0	1	0	0	0	1411	1087	38	1	1428	1	BEST4	1	45253349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142200	45253349	203997272	521	8233											
PLK3	1263	broad.mit.edu	37	chr1	45268516	45268516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcggatgtatggtcactGggctgtgtcatgtgagttgc	17	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45268516G>A	ENST00000372201.4	+	6	977	c.738G>A	c.(736-738)ctG>ctA	p.L246L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	246	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TATGGTCACTGGGCTGTGTCA	0.607													False	0	True	1:45268516	0	A	45268516	G	A	45268516	2	1	88	1	0	0	0	0	0	0	0	1	12166	1335	47	2		2	PLK3	1	45268516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15167	45268516	203982105	522	8234											
PLK3	1263	broad.mit.edu	37	chr1	45270982	45270982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtagaggtacctgctccGcccttgctgctgcagtgggt	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45270982G>A	ENST00000372201.4	+	14	1919	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	560						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TACCTGCTCCGCCCTTGCTGC	0.592													False	0	True	1:45270982	0	A	45270982	G	A	45270982	2	1	88	1	0	0	0	0	0	0	0	1	12166	1074	38	1		1	PLK3	1	45270982	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2466	45270982	203979639	523	8235											
PLK3	1263	broad.mit.edu	37	chr1	45271006	45271006	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgctgctgcagtgggtcaaGacggatcaggctctcctcat	12	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45271006G>A	ENST00000372201.4	+	14	1943	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	568	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AGTGGGTCAAGACGGATCAGG	0.602													False	0	False	1:45271006	0	A	45271006	G	A	45271006	2	1	88	1	0	0	0	0	0	0	0	1	12166	933	33	2		2	PLK3	1	45271006	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	45271006	203979615	524	8236											
TCTEX1D4	343521	broad.mit.edu	37	chr1	45271752	45271752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagaccgaggccagcccatCgcgcgccacgtcccagagcg	14	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45271752C>T	ENST00000372200.1	-	2	1097	c.589G>A	c.(589-591)Gat>Aat	p.D197N	TCTEX1D4_ENST00000339355.2_Missense_Mutation_p.D197N	NM_001013632.2	NP_001013654.1	Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	197										pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCCAGCCCATCGCGCGCCACG	0.672													False	0	True	1:45271752	0	T	45271752	C	T	45271752	3	4	88	1	0	0	0	0	1	0	0	0	15803	884	31	1	80	1	TCTEX1D4	1	45271752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	746	45271752	203978869	525	8237											
PTCH2	8643	broad.mit.edu	37	chr1	45292982	45292982	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaaggcagcctggattcCtgggggagaccaggataggg	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45292982C>A	ENST00000447098.2	-	16	2383		c.e16-1		PTCH2_ENST00000372192.3_Splice_Site	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2						protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCCTGGATTCCTGGGGGAGAC	0.642									Basal Cell Nevus syndrome				False	0	False	1:45292982	0	A	45292982	C	A	45292982	5	1	88	1	0	0	0	0	0	0	1	0	12807	695	24	3	1288	3	PTCH2	1	45292982	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21230	45292982	203957639	526	8238											
PTCH2	8643	broad.mit.edu	37	chr1	45293758	45293758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctggctgctggcttcacaGtgggtaaaggcttgaactgt	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45293758G>T	ENST00000447098.2	-	14	1826	c.1815C>A	c.(1813-1815)caC>caA	p.H605Q	PTCH2_ENST00000372192.3_Missense_Mutation_p.H605Q	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	605					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGCTTCACAGTGGGTAAAGG	0.622									Basal Cell Nevus syndrome				False	0	False	1:45293758	0	T	45293758	G	T	45293758	3	4	88	1	0	0	0	0	1	0	0	0	12807	1020	36	3	1852	3	PTCH2	1	45293758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	776	45293758	203956863	527	8239											
PTCH2	8643	broad.mit.edu	37	chr1	45307689	45307689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcacgaagccagagtggaGccttcaggctcccagctagg	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45307689G>A	ENST00000447098.2	-	2	106	c.95C>T	c.(94-96)gCt>gTt	p.A32V	PTCH2_ENST00000372192.3_Missense_Mutation_p.A32V	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	32					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCAGAGTGGAGCCTTCAGGCT	0.537									Basal Cell Nevus syndrome				False	0	False	1:45307689	0	A	45307689	G	A	45307689	3	1	88	1	0	0	0	0	1	0	0	0	12807	971	34	2	3620	2	PTCH2	1	45307689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13931	45307689	203942932	528	8240											
EIF2B3	8891	broad.mit.edu	37	chr1	45340395	45340395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaggcaattggtaataGtcactctatcttttatgaga	9	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45340395G>A	ENST00000360403.2	-	10	1283	c.1157C>T	c.(1156-1158)aCt>aTt	p.T386I	EIF2B3_ENST00000372183.3_Missense_Mutation_p.T386I	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	386					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					ATTGGTAATAGTCACTCTATC	0.453													False	0	False	1:45340395	0	A	45340395	G	A	45340395	3	1	88	1	0	0	0	0	1	0	0	0	5032	1029	36	2	250	2	EIF2B3	1	45340395	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32706	45340395	203910226	529	8241											
HECTD3	79654	broad.mit.edu	37	chr1	45470286	45470286	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tactacctgctccttgctctCctctagccgtgccttctgga	7	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45470286C>A	ENST00000372172.4	-	16	2199	c.2128G>T	c.(2128-2130)Gag>Tag	p.E710*	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Nonsense_Mutation_p.E320*	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	710	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TCCTTGCTCTCCTCTAGCCGT	0.602													False	0	False	1:45470286	0	A	45470286	C	A	45470286	4	1	88	1	0	0	0	0	0	1	0	0	7088	864	30	3	481	3	HECTD3	1	45470286	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129891	45470286	203780335	530	8242											
ZSWIM5	57643	broad.mit.edu	37	chr1	45484670	45484670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacggagctccatgtagCgggcgatggtgaacagctgt	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45484670C>T	ENST00000359600.5	-	14	3219	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1005							zinc ion binding	p.R1005H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTCCATGTAGCGGGCGATGGT	0.557											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:45484670	0	T	45484670	C	T	45484670	3	4	88	1	0	0	0	0	1	0	0	0	18326	768	27	1	547	1	ZSWIM5	1	45484670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14384	45484670	203765951	531	8243											
ZSWIM5	57643	broad.mit.edu	37	chr1	45504624	45504624	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtacctgacatctccagataGccatcatcattcaggcggca	8	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45504624G>T	ENST00000359600.5	-	8	2083	c.1878C>A	c.(1876-1878)ggC>ggA	p.G626G		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	626							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCTCCAGATAGCCATCATCAT	0.552													False	0	False	1:45504624	0	T	45504624	G	T	45504624	2	4	88	1	0	0	0	0	0	0	0	1	18326	958	34	3		3	ZSWIM5	1	45504624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19954	45504624	203745997	532	8244											
ZSWIM5	57643	broad.mit.edu	37	chr1	45553598	45553598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggatagaatctcatctgCcagtttctgtgcagtaggaa	12	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45553598C>T	ENST00000359600.5	-	2	1112	c.907G>A	c.(907-909)Gca>Aca	p.A303T		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	303							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATCTCATCTGCCAGTTTCTGT	0.378													False	0	False	1:45553598	0	T	45553598	C	T	45553598	3	4	88	1	0	0	0	0	1	0	0	0	18326	739	26	2	2702	2	ZSWIM5	1	45553598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48974	45553598	203697023	533	8245											
TOE1	114034	broad.mit.edu	37	chr1	45806997	45806997	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgagtgggcttggggacaGgaagagtttgctgaaccagt	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45806997G>T	ENST00000372090.5	+	3	801	c.218G>T	c.(217-219)aGg>aTg	p.R73M	TOE1_ENST00000539779.1_Missense_Mutation_p.Q25H|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	73						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CTTGGGGACAGGAAGAGTTTG	0.557													False	0	False	1:45806997	0	T	45806997	G	T	45806997	3	4	88	1	0	0	0	0	1	0	0	0	16431	1000	35	3	228	3	TOE1	1	45806997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253399	45806997	203443624	534	8246											
TESK2	10420	broad.mit.edu	37	chr1	45811107	45811107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactgtacgtgggggcttaCgggaaaagatatctgactgg	14	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45811107C>T	ENST00000372086.3	-	11	1521	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000538496.1_Missense_Mutation_p.R291H|TESK2_ENST00000341771.6_Missense_Mutation_p.R345H|TESK2_ENST00000372084.1_Missense_Mutation_p.R345H	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	374					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TGGGGGCTTACGGGAAAAGAT	0.557													False	0	True	1:45811107	0	T	45811107	C	T	45811107	3	4	88	1	0	0	0	0	1	0	0	0	15850	536	19	1	598	1	TESK2	1	45811107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4110	45811107	203439514	535	8247											
PRDX1	5052	broad.mit.edu	37	chr1	45977046	45977046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcttttggacatcaggCttgatggtatcactgccagg	11	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45977046C>A	ENST00000262746.1	-	6	894	c.555G>T	c.(553-555)aaG>aaT	p.K185N	PRDX1_ENST00000319248.8_Missense_Mutation_p.K185N|PRDX1_ENST00000372079.1_Missense_Mutation_p.K83N	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	185					cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GGACATCAGGCTTGATGGTAT	0.498													False	0	False	1:45977046	0	A	45977046	C	A	45977046	3	1	88	1	0	0	0	0	1	0	0	0	12540	796	28	3	48	3	PRDX1	1	45977046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165939	45977046	203273575	536	8248											
NASP	4678	broad.mit.edu	37	chr1	46083795	46083795	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggctggagctacagtTgaaagcactgcatgttaaga	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46083795T>C	ENST00000350030.3	+	15	2436	c.2349T>C	c.(2347-2349)gtT>gtC	p.V783V	NASP_ENST00000402363.3_Silent_p.V785V|NASP_ENST00000351223.3_Silent_p.V444V|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000537798.1_Silent_p.V719V|NASP_ENST00000372052.4_Silent_p.V417V	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	783					blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAGCTACAGTTGAAAGCACTG	0.483													False	0	False	1:46083795	0	C	46083795	T	C	46083795	2	2	88	1	0	0	0	0	0	0	0	1	10239	1799	63	4		4	NASP	1	46083795	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106749	46083795	203166826	537	8249											
IPP	3652	broad.mit.edu	37	chr1	46206618	46206618	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaggtaataaagggaatcGaattgggtctagcacttcca	12	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46206618G>A	ENST00000396478.3	-	3	781	c.679C>T	c.(679-681)Cga>Tga	p.R227*		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	227						actin cytoskeleton|cytoplasm	actin binding	p.R227*(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AAAGGGAATCGAATTGGGTCT	0.353													False	0	False	1:46206618	0	A	46206618	G	A	46206618	4	1	88	1	0	0	0	0	0	1	0	0	7850	1066	37	1	1205	1	IPP	1	46206618	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122823	46206618	203044003	538	8250											
MAST2	23139	broad.mit.edu	37	chr1	46489643	46489643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttgtgcatggtgatggagTacgttgaaggtactgaggca	15	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46489643T>C	ENST00000361297.2	+	15	2054	c.1771T>C	c.(1771-1773)Tac>Cac	p.Y591H	MAST2_ENST00000372009.2_Missense_Mutation_p.Y521H	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	591	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGTGATGGAGTACGTTGAAGG	0.522													False	0	False	1:46489643	0	C	46489643	T	C	46489643	3	2	88	1	0	0	0	0	1	0	0	0	9392	1638	57	4	1829	4	MAST2	1	46489643	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	283025	46489643	202760978	539	8251											
MAST2	23139	broad.mit.edu	37	chr1	46497062	46497062	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcttacttgggcctacaGctatggagacccgaggccgt	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46497062G>T	ENST00000361297.2	+	24	3275		c.e24-1		MAST2_ENST00000372009.2_Splice_Site	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2						regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGGGCCTACAGCTATGGAGAC	0.657													False	0	False	1:46497062	0	T	46497062	G	T	46497062	5	4	88	1	0	0	0	0	0	0	1	0	9392	985	34	3	3086	3	MAST2	1	46497062	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7419	46497062	202753559	540	8252											
MAST2	23139	broad.mit.edu	37	chr1	46500837	46500837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaagcaagaagccattcGtgaggtggactcctcagagg	14	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46500837G>A	ENST00000361297.2	+	29	4779	c.4496G>A	c.(4495-4497)cGt>cAt	p.R1499H	MAST2_ENST00000372009.2_Missense_Mutation_p.R1309H	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1499					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAAGCCATTCGTGAGGTGGAC	0.647													False	0	False	1:46500837	0	A	46500837	G	A	46500837	3	1	88	1	0	0	0	0	1	0	0	0	9392	1145	40	1	4610	1	MAST2	1	46500837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3775	46500837	202749784	541	8253											
PIK3R3	8503	broad.mit.edu	37	chr1	46509480	46509480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgtacaggttgtagggCtctgcaaagccatagccccg	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46509480C>T	ENST00000262741.5	-	10	1940	c.1251G>A	c.(1249-1251)gaG>gaA	p.E417E	PIK3R3_ENST00000340332.6_Silent_p.E322E|PIK3R3_ENST00000372006.1_Silent_p.E417E|PIK3R3_ENST00000423209.1_Silent_p.E358E|PIK3R3_ENST00000354242.4_Silent_p.E358E|PIK3R3_ENST00000540385.1_Silent_p.E463E|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000420542.1_Silent_p.E417E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	417	SH2 2.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GGTTGTAGGGCTCTGCAAAGC	0.527													False	0	True	1:46509480	0	T	46509480	C	T	46509480	2	4	88	1	0	0	0	0	0	0	0	1	11989	796	28	2		2	PIK3R3	1	46509480	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8643	46509480	202741141	542	8254											
PIK3R3	8503	broad.mit.edu	37	chr1	46527716	46527716	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aattgtttcattaaaagcttCtattgcagtcctcttcatct	4	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46527716C>T	ENST00000262741.5	-	6	1338	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	PIK3R3_ENST00000340332.6_Missense_Mutation_p.E181K|PIK3R3_ENST00000372006.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000423209.1_Missense_Mutation_p.E217K|PIK3R3_ENST00000354242.4_Missense_Mutation_p.E217K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E263K|PIK3R3_ENST00000420542.1_Missense_Mutation_p.E217K	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	217					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TTAAAAGCTTCTATTGCAGTC	0.333													False	0	False	1:46527716	0	T	46527716	C	T	46527716	3	4	88	1	0	0	0	0	1	0	0	0	11989	922	32	2	756	2	PIK3R3	1	46527716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18236	46527716	202722905	543	8255											
POMGNT1	55624	broad.mit.edu	37	chr1	46656157	46656157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccatacctgagcagcctgTgaacttccacttcataagct	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46656157T>C	ENST00000371992.1	-	19	2287	c.1637A>G	c.(1636-1638)cAc>cGc	p.H546R	POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Missense_Mutation_p.H524R|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.H546R|POMGNT1_ENST00000371984.3_Missense_Mutation_p.H546R	NM_001243766.1	NP_001230695	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	546					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GAGCAGCCTGTGAACTTCCAC	0.527													False	0	False	1:46656157	0	C	46656157	T	C	46656157	3	2	88	1	0	0	0	0	1	0	0	0	12312	1696	59	4	361	4	POMGNT1	1	46656157	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	128441	46656157	202594464	544	8256											
POMGNT1	55624	broad.mit.edu	37	chr1	46657980	46657980	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccctaccctgacagttacCttttccggtgtaggccactt	7	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46657980C>A	ENST00000371992.1	-	16	2063	c.1413G>T	c.(1411-1413)aaG>aaT	p.K471N	POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Splice_Site_p.K449N|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371986.3_Splice_Site_p.K471N|POMGNT1_ENST00000371984.3_Splice_Site_p.K471N	NM_001243766.1	NP_001230695	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	471					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TGACAGTTACCTTTTCCGGTG	0.572													False	0	True	1:46657980	0	A	46657980	C	A	46657980	5	1	88	1	0	0	0	0	0	0	1	0	12312	695	24	3	597	3	POMGNT1	1	46657980	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1823	46657980	202592641	545	8257											
POMGNT1	55624	broad.mit.edu	37	chr1	46663544	46663544	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagcccatgacttcaggaatCtgaagggaccagagggccac	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46663544C>A	ENST00000396420.3	-	2	587		c.e2-1		POMGNT1_ENST00000371986.3_Splice_Site|POMGNT1_ENST00000371992.1_Splice_Site|POMGNT1_ENST00000371984.3_Splice_Site			Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)						protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CTTCAGGAATCTGAAGGGACC	0.592													False	0	False	1:46663544	0	A	46663544	C	A	46663544	5	1	88	1	0	0	0	0	0	0	1	0	12312	927	32	3		3	POMGNT1	1	46663544	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5564	46663544	202587077	546	8258											
RAD54L	8438	broad.mit.edu	37	chr1	46714235	46714235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaacctgaaggcaggTcctgtgatgatgaagactgg	14	6	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46714235T>G	ENST00000371975.4	+	2	729	c.55T>G	c.(55-57)Tcc>Gcc	p.S19A	RAD54L_ENST00000442598.1_Missense_Mutation_p.S19A	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	19					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TGAAGGCAGGTCCTGTGATGA	0.547								Direct reversal of damage;Homologous recombination					False	0	False	1:46714235	0	G	46714235	T	G	46714235	3	3	88	1	0	0	0	0	1	0	0	0	13072	1667	58	4	61	4	RAD54L	1	46714235	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50691	46714235	202536386	547	8259											
RAD54L	8438	broad.mit.edu	37	chr1	46726956	46726956	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattcatgaaccagcgtggaGccagggtgtcttctcccatc	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46726956G>T	ENST00000371975.4	+	8	1464	c.790G>T	c.(790-792)Gcc>Tcc	p.A264S	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.A264S	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	264	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCAGCGTGGAGCCAGGGTGTC	0.408								Direct reversal of damage;Homologous recombination					False	0	False	1:46726956	0	T	46726956	G	T	46726956	3	4	88	1	0	0	0	0	1	0	0	0	13072	971	34	3	820	3	RAD54L	1	46726956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12721	46726956	202523665	548	8260											
RAD54L	8438	broad.mit.edu	37	chr1	46733150	46733150	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggacacaggctcaagaactCtgagaatcagacttaccaag	10	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46733150C>A	ENST00000371975.4	+	9	1585	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.S304Y	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	304	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTCAAGAACTCTGAGAATCAG	0.502								Direct reversal of damage;Homologous recombination					False	0	False	1:46733150	0	A	46733150	C	A	46733150	3	1	88	1	0	0	0	0	1	0	0	0	13072	913	32	3	945	3	RAD54L	1	46733150	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6194	46733150	202517471	549	8261											
RAD54L	8438	broad.mit.edu	37	chr1	46739361	46739361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcagtgacaaagtagtgCtggtgtcgaattacacccag	12	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46739361C>T	ENST00000371975.4	+	14	2226	c.1552C>T	c.(1552-1554)Ctg>Ttg	p.L518L	RAD54L_ENST00000442598.1_Silent_p.L518L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	518	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CAAAGTAGTGCTGGTGTCGAA	0.537								Direct reversal of damage;Homologous recombination					False	0	False	1:46739361	0	T	46739361	C	T	46739361	2	4	88	1	0	0	0	0	0	0	0	1	13072	796	28	2		2	RAD54L	1	46739361	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6211	46739361	202511260	550	8262											
RAD54L	8438	broad.mit.edu	37	chr1	46743903	46743903	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgctgcctccactgccatCaccttcgtcttccaccagcg	7	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46743903C>T	ENST00000371975.4	+	18	2867	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	RAD54L_ENST00000442598.1_Silent_p.I731I	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	731					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCACTGCCATCACCTTCGTCT	0.587								Direct reversal of damage;Homologous recombination					False	0	False	1:46743903	0	T	46743903	C	T	46743903	2	4	88	1	0	0	0	0	0	0	0	1	13072	816	29	2		2	RAD54L	1	46743903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4542	46743903	202506718	551	8263											
NSUN4	387338	broad.mit.edu	37	chr1	46827244	46827244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctctttctggtttcagggCtggactccttgccaccaaac	9	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827244C>A	ENST00000474844.1	+	6	1531	c.881C>A	c.(880-882)gCt>gAt	p.A294D	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.A245D|NSUN4_ENST00000537428.1_Missense_Mutation_p.A245D	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	294							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GGTTTCAGGGCTGGACTCCTT	0.493													False	0	True	1:46827244	0	A	46827244	C	A	46827244	3	1	88	1	0	0	0	0	1	0	0	0	10748	797	28	3	903	3	NSUN4	1	46827244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83341	46827244	202423377	552	8264											
NSUN4	387338	broad.mit.edu	37	chr1	46827361	46827361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcctggccaatcaatacaGcatccaggtacaggtggaag	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827361G>T	ENST00000474844.1	+	6	1648	c.998G>T	c.(997-999)aGc>aTc	p.S333I	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.S284I|NSUN4_ENST00000537428.1_Missense_Mutation_p.S284I	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	333							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AATCAATACAGCATCCAGGTA	0.478													False	0	False	1:46827361	0	T	46827361	G	T	46827361	3	4	88	1	0	0	0	0	1	0	0	0	10748	971	34	3	1020	3	NSUN4	1	46827361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	46827361	202423260	553	8265											
NSUN4	387338	broad.mit.edu	37	chr1	46827478	46827478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaaacctcatggccaattTtggccccatgtacttctgca	6	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827478T>C	ENST00000474844.1	+	6	1765	c.1115T>C	c.(1114-1116)tTt>tCt	p.F372S	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.F323S|NSUN4_ENST00000537428.1_Missense_Mutation_p.F323S	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	372							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					ATGGCCAATTTTGGCCCCATG	0.453													False	0	True	1:46827478	0	C	46827478	T	C	46827478	3	2	88	1	0	0	0	0	1	0	0	0	10748	1841	64	4	1137	4	NSUN4	1	46827478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117	46827478	202423143	554	8266											
DMBX1	127343	broad.mit.edu	37	chr1	46976890	46976890	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggggctgaggaccccaAagctgagaagagccctgggg	18	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46976890A>G	ENST00000371956.4	+	3	647	c.632A>G	c.(631-633)aAa>aGa	p.K211R	DMBX1_ENST00000360032.3_Missense_Mutation_p.K206R	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	211					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GAGGACCCCAAAGCTGAGAAG	0.662													False	0	True	1:46976890	0	G	46976890	A	G	46976890	3	3	88	1	0	0	0	0	1	0	0	0	4608	14	1	4	642	4	DMBX1	1	46976890	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	149412	46976890	202273731	555	8267											
KNCN	148930	broad.mit.edu	37	chr1	47016857	47016857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggccagctgcaggccgcGgaagtctctgctgctgatgg	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47016857G>A	ENST00000481882.2	-	1	342	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000396314.3_Missense_Mutation_p.R11C			A6PVL3	KNCN_HUMAN	kinocilin	11						integral to membrane				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGCAGGCCGCGGAAGTCTCTG	0.642													False	0	False	1:47016857	0	A	47016857	G	A	47016857	3	1	88	1	0	0	0	0	1	0	0	0	8475	1116	39	1	286	1	KNCN	1	47016857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39967	47016857	202233764	556	8268											
CYP4B1	1580	broad.mit.edu	37	chr1	47279186	47279186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagctcgggagggtaaGtcctttgacatcttctgcga	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47279186G>A	ENST00000271153.4	+	5	564	c.528G>A	c.(526-528)aaG>aaA	p.K176K	CYP4B1_ENST00000371919.4_Silent_p.K161K|CYP4B1_ENST00000371923.4_Silent_p.K176K|CYP4B1_ENST00000452782.2_Silent_p.K13K			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	176					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GGGAGGGTAAGTCCTTTGACA	0.567													False	0	False	1:47279186	0	A	47279186	G	A	47279186	2	1	88	1	0	0	0	0	0	0	0	1	4210	1020	36	2		2	CYP4B1	1	47279186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262329	47279186	201971435	557	8269											
CYP4B1	1580	broad.mit.edu	37	chr1	47279222	47279222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgatgtgggtcacatggcGctgaacacactcatgaagtg	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47279222G>A	ENST00000271153.4	+	5	600	c.564G>A	c.(562-564)gcG>gcA	p.A188A	CYP4B1_ENST00000371919.4_Silent_p.A173A|CYP4B1_ENST00000371923.4_Silent_p.A188A|CYP4B1_ENST00000452782.2_Silent_p.A25A			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	188					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GTCACATGGCGCTGAACACAC	0.572													False	0	False	1:47279222	0	A	47279222	G	A	47279222	2	1	88	1	0	0	0	0	0	0	0	1	4210	1074	38	1		1	CYP4B1	1	47279222	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36	47279222	201971399	558	8270											
CYP4X1	260293	broad.mit.edu	37	chr1	47495763	47495763	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcaggcatttttctgtatCtatgacccagactatgcaaa	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47495763C>T	ENST00000371901.3	+	2	529	c.279C>T	c.(277-279)atC>atT	p.I93I	CYP4X1_ENST00000538609.1_Silent_p.I92I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	93						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTTTCTGTATCTATGACCCAG	0.433													False	0	False	1:47495763	0	T	47495763	C	T	47495763	2	4	88	1	0	0	0	0	0	0	0	1	4218	903	32	2		2	CYP4X1	1	47495763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216541	47495763	201754858	559	8271											
CYP4Z1	199974	broad.mit.edu	37	chr1	47533229	47533229	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatcctcctctgcatgTctctgctgctgtttcaggta	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47533229T>G	ENST00000334194.3	+	1	70	c.67T>G	c.(67-69)Tct>Gct	p.S23A		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	23						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTCTGCATGTCTCTGCTGCT	0.557													False	0	False	1:47533229	0	G	47533229	T	G	47533229	3	3	88	1	0	0	0	0	1	0	0	0	4219	1667	58	4	69	4	CYP4Z1	1	47533229	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37466	47533229	201717392	560	8272											
CYP4A22	284541	broad.mit.edu	37	chr1	47610579	47610579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggctctacccaccggtgCcaggcattggaagagagctc	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47610579C>T	ENST00000371891.3	+	9	1190	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.P289S|CYP4A22_ENST00000294337.3_Missense_Mutation_p.P387S|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	387						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCACCGGTGCCAGGCATTGG	0.557													False	0	False	1:47610579	0	T	47610579	C	T	47610579	3	4	88	1	0	0	0	0	1	0	0	0	4209	739	26	2	1193	2	CYP4A22	1	47610579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77350	47610579	201640042	561	8273											
TAL1	6886	broad.mit.edu	37	chr1	47685563	47685563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggaggtcatctgggggCgcgccgccccctcccccacc	13	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47685563C>T	ENST00000371883.3	-	4	1407	c.831G>A	c.(829-831)gcG>gcA	p.A277A	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Silent_p.A275A|TAL1_ENST00000294339.3_Silent_p.A275A			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	275					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CATCTGGGGGCGCGccgcccc	0.701			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								False	0	True	1:47685563	0	T	47685563	C	T	47685563	2	4	88	1	0	0	0	0	0	0	0	1	15623	755	27	1		1	TAL1	1	47685563	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74984	47685563	201565058	562	8274											
STIL	6491	broad.mit.edu	37	chr1	47746463	47746463	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actgcctagaattaagtgtgGagggtcttataggatactct	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47746463G>T	ENST00000360380.3	-	13	2030	c.1667C>A	c.(1666-1668)tCc>tAc	p.S556Y	STIL_ENST00000337817.5_Missense_Mutation_p.S556Y|STIL_ENST00000371877.3_Missense_Mutation_p.S556Y|STIL_ENST00000396221.2_Missense_Mutation_p.S556Y|STIL_ENST00000243182.6_Missense_Mutation_p.S556Y	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	556					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATTAAGTGTGGAGGGTCTTAT	0.408													False	0	False	1:47746463	0	T	47746463	G	T	47746463	3	4	88	1	0	0	0	0	1	0	0	0	15364	1174	41	3	2223	3	STIL	1	47746463	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60900	47746463	201504158	563	8275											
STIL	6491	broad.mit.edu	37	chr1	47753293	47753293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttggctttcagcgctcaGttcacaacggattggatttt	9	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47753293G>A	ENST00000360380.3	-	11	1426	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	STIL_ENST00000337817.5_Silent_p.L355L|STIL_ENST00000371877.3_Silent_p.L355L|STIL_ENST00000396221.2_Silent_p.L355L|STIL_ENST00000243182.6_Silent_p.L355L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	355					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCAGCGCTCAGTTCACAACGG	0.343													False	0	False	1:47753293	0	A	47753293	G	A	47753293	2	1	88	1	0	0	0	0	0	0	0	1	15364	1020	36	2		2	STIL	1	47753293	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6830	47753293	201497328	564	8276											
STIL	6491	broad.mit.edu	37	chr1	47759187	47759187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaagcccatacctgaggaCtatagatatgtgtaattcca	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47759187C>A	ENST00000360380.3	-	9	1178	c.815G>T	c.(814-816)aGt>aTt	p.S272I	STIL_ENST00000337817.5_Missense_Mutation_p.S272I|STIL_ENST00000371877.3_Missense_Mutation_p.S272I|STIL_ENST00000396221.2_Missense_Mutation_p.S272I|STIL_ENST00000243182.6_Missense_Mutation_p.S272I	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	272					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TACCTGAGGACTATAGATATG	0.318													False	0	False	1:47759187	0	A	47759187	C	A	47759187	3	1	88	1	0	0	0	0	1	0	0	0	15364	565	20	3	3091	3	STIL	1	47759187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5894	47759187	201491434	565	8277											
STIL	6491	broad.mit.edu	37	chr1	47767944	47767944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccaagtaaaaagcatgacGaattttttttattctgctta	5	6	1	1	rs147160336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47767944G>A	ENST00000360380.3	-	5	590	c.227C>T	c.(226-228)tCg>tTg	p.S76L	STIL_ENST00000337817.5_Missense_Mutation_p.S76L|STIL_ENST00000371877.3_Missense_Mutation_p.S76L|STIL_ENST00000396221.2_Missense_Mutation_p.S76L|STIL_ENST00000243182.6_Missense_Mutation_p.S76L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	76					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AAAGCATGACGAATTTTTTTT	0.413													False	0	False	1:47767944	0	A	47767944	G	A	47767944	3	1	88	1	0	0	0	0	1	0	0	0	15364	1059	37	1	3695	1	STIL	1	47767944	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8757	47767944	201482677	566	8278											
FOXD2	2306	broad.mit.edu	37	chr1	47904305	47904305	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcttcccctactaccgggaGaagttccccgcctggcagaa	10	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47904305G>T	ENST00000334793.5	+	1	2617	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	166					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		ACTACCGGGAGAAGTTCCCCG	0.627													False	0	False	1:47904305	0	T	47904305	G	T	47904305	3	4	88	1	0	0	0	0	1	0	0	0	6037	933	33	3	500	3	FOXD2	1	47904305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136361	47904305	201346316	567	8279											
SLC5A9	200010	broad.mit.edu	37	chr1	48695003	48695003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccttggctgggtcttcGtccctgtgtacatcgcagca	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:48695003G>A	ENST00000236495.5	+	5	501	c.451G>A	c.(451-453)Gtc>Atc	p.V151I	SLC5A9_ENST00000438567.2_Missense_Mutation_p.V126I|SLC5A9_ENST00000533824.1_Missense_Mutation_p.V147I|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000420136.2_Missense_Mutation_p.V119I	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	126						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTGGGTCTTCGTCCCTGTGTA	0.582													False	0	False	1:48695003	0	A	48695003	G	A	48695003	3	1	88	1	0	0	0	0	1	0	0	0	14752	1145	40	1	469	1	SLC5A9	1	48695003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	790698	48695003	200555618	568	8280											
SLC5A9	200010	broad.mit.edu	37	chr1	48705156	48705156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctctgcgggctcactGccatcgtcattgtcattgtc	8	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:48705156G>A	ENST00000236495.5	+	13	1749	c.1699G>A	c.(1699-1701)Gcc>Acc	p.A567T	SLC5A9_ENST00000438567.2_Missense_Mutation_p.A542T|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A563T	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	542						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CGGGCTCACTGCCATCGTCAT	0.567													False	0	False	1:48705156	0	A	48705156	G	A	48705156	3	1	88	1	0	0	0	0	1	0	0	0	14752	1319	46	2	1749	2	SLC5A9	1	48705156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10153	48705156	200545465	569	8281											
AGBL4	84871	broad.mit.edu	37	chr1	49052677	49052677	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtggggactaaggatacaGgcttcttcagtgtagggcac	16	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:49052677G>T	ENST00000371839.1	-	11	1382	c.1266C>A	c.(1264-1266)gcC>gcA	p.A422A	AGBL4_ENST00000334103.7_Splice_Site_p.A155A	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	422					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TAAGGATACAGGCTTCTTCAG	0.567													False	0	False	1:49052677	0	T	49052677	G	T	49052677	5	4	88	1	0	0	0	0	0	0	1	0	377	1014	35	3	261	3	AGBL4	1	49052677	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	347521	49052677	200197944	570	8282											
ELAVL4	1996	broad.mit.edu	37	chr1	50663102	50663102	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctccttctctttgcaggCtggacaatttgcttaatatg	7	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50663102C>A	ENST00000371824.1	+	6	993	c.736C>A	c.(736-738)Ctg>Atg	p.L246M	ELAVL4_ENST00000371827.1_Splice_Site_p.L246M|ELAVL4_ENST00000371823.4_Splice_Site_p.L246M|ELAVL4_ENST00000371819.1_Splice_Site_p.L251M|ELAVL4_ENST00000448907.2_Splice_Site_p.L249M|ELAVL4_ENST00000357083.4_Splice_Site_p.L263M|ELAVL4_ENST00000371821.1_Splice_Site_p.L251M			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	246					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCTTTGCAGGCTGGACAATTT	0.418													False	0	False	1:50663102	0	A	50663102	C	A	50663102	5	1	88	1	0	0	0	0	0	0	1	0	5084	811	28	3	857	3	ELAVL4	1	50663102	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1610425	50663102	198587519	571	8283											
DMRTA2	63950	broad.mit.edu	37	chr1	50884924	50884924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtggttcagcacctgctCgatggcctgcaccacgtcgc	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50884924C>T	ENST00000404795.3	-	3	1434	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	DMRTA2_ENST00000418121.1_Missense_Mutation_p.E348K	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	348	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						AGCACCTGCTCGATGGCCTGC	0.716													False	0	False	1:50884924	0	T	50884924	C	T	50884924	3	4	88	1	0	0	0	0	1	0	0	0	4619	893	31	1	590	1	DMRTA2	1	50884924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221822	50884924	198365697	572	8284											
DMRTA2	63950	broad.mit.edu	37	chr1	50885223	50885223	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccgagctaggggcgaaccaGaaaaggactcgccatcgccg	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50885223G>T	ENST00000404795.3	-	3	1135	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	DMRTA2_ENST00000418121.1_Missense_Mutation_p.S248Y	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	248	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						GGGCGAACCAGAAAAGGACTC	0.721													False	0	True	1:50885223	0	T	50885223	G	T	50885223	3	4	88	1	0	0	0	0	1	0	0	0	4619	942	33	3	889	3	DMRTA2	1	50885223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299	50885223	198365398	573	8285											
DMRTA2	63950	broad.mit.edu	37	chr1	50885340	50885340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcaccggcggcggcagcGggctgcccgggcggcctgcc	18	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50885340G>A	ENST00000404795.3	-	3	1018	c.626C>T	c.(625-627)cCg>cTg	p.P209L	DMRTA2_ENST00000418121.1_Missense_Mutation_p.P209L	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	209	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						CGGCGGCAGCGGGCTGCCCGG	0.687													False	0	True	1:50885340	0	A	50885340	G	A	50885340	3	1	88	1	0	0	0	0	1	0	0	0	4619	1116	39	1	1006	1	DMRTA2	1	50885340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	50885340	198365281	574	8286											
FAF1	11124	broad.mit.edu	37	chr1	50941256	50941256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgccgctccaagaactcGccactgggggtccggatccg	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50941256G>A	ENST00000396153.2	-	18	2200	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	FAF1_ENST00000545823.1_Silent_p.G341G|FAF1_ENST00000371778.4_Silent_p.G583G	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	583	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCAAGAACTCGCCACTGGGGG	0.532													False	0	False	1:50941256	0	A	50941256	G	A	50941256	2	1	88	1	0	0	0	0	0	0	0	1	5405	1074	38	1		1	FAF1	1	50941256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55916	50941256	198309365	575	8287											
FAF1	11124	broad.mit.edu	37	chr1	51005376	51005376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccacaacactgccaaaGtgtctattgcacatagtgag	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51005376G>T	ENST00000396153.2	-	14	1744	c.1293C>A	c.(1291-1293)caC>caA	p.H431Q	FAF1_ENST00000545823.1_Missense_Mutation_p.H189Q|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Missense_Mutation_p.H431Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	431					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CACTGCCAAAGTGTCTATTGC	0.353													False	0	True	1:51005376	0	T	51005376	G	T	51005376	3	4	88	1	0	0	0	0	1	0	0	0	5405	1020	36	3	683	3	FAF1	1	51005376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64120	51005376	198245245	576	8288											
RNF11	26994	broad.mit.edu	37	chr1	51736946	51736946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcacgtgcccctcctgCatggagccagttgatgcagc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51736946C>T	ENST00000242719.3	+	3	903	c.417C>T	c.(415-417)tgC>tgT	p.C139C	RNF11_ENST00000494873.1_3'UTR	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	139					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	p.0?(2)		large_intestine(1)	1						GCCCCTCCTGCATGGAGCCAG	0.468													False	0	False	1:51736946	0	T	51736946	C	T	51736946	2	4	88	1	0	0	0	0	0	0	0	1	13503	718	25	2		2	RNF11	1	51736946	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	731570	51736946	197513675	577	8289											
EPS15	2060	broad.mit.edu	37	chr1	51913785	51913785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacaggttctttctccagtGcacagtataccaaaaacatg	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51913785G>A	ENST00000371733.3	-	9	680	c.584C>T	c.(583-585)gCa>gTa	p.A195V	EPS15_ENST00000371730.2_Missense_Mutation_p.A195V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	195	EF-hand 1.|EH 2.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTTCTCCAGTGCACAGTATAC	0.428			T	MLL	ALL								False	0	False	1:51913785	0	A	51913785	G	A	51913785	3	1	88	1	0	0	0	0	1	0	0	0	5224	1319	46	2	2272	2	EPS15	1	51913785	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176839	51913785	197336836	578	8290											
EPS15	2060	broad.mit.edu	37	chr1	51937366	51937366	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatctgaaacttacttgtTtgttcaggatacctttgcca	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51937366T>G	ENST00000371733.3	-	4	305	c.209A>C	c.(208-210)aAa>aCa	p.K70T	EPS15_ENST00000371730.2_Missense_Mutation_p.K70T	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	70	EH 1.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ACTTACTTGTTTGTTCAGGAT	0.308			T	MLL	ALL								False	0	True	1:51937366	0	G	51937366	T	G	51937366	3	3	88	1	0	0	0	0	1	0	0	0	5224	1841	64	4	2667	4	EPS15	1	51937366	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23581	51937366	197313255	579	8291											
OSBPL9	114883	broad.mit.edu	37	chr1	52231644	52231644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggctcatccccaaagcGcttaatagagtgagtagatg	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52231644G>A	ENST00000371710.3	+	12	1165	c.983G>A	c.(982-984)cGc>cAc	p.R328H	OSBPL9_ENST00000428468.1_Missense_Mutation_p.R310H|OSBPL9_ENST00000531828.1_Missense_Mutation_p.R145H|OSBPL9_ENST00000361556.5_Missense_Mutation_p.R200H|OSBPL9_ENST00000462759.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000486942.1_Missense_Mutation_p.R132H|OSBPL9_ENST00000447887.1_Missense_Mutation_p.R320H|OSBPL9_ENST00000371714.1_Missense_Mutation_p.R297H|OSBPL9_ENST00000435686.2_Missense_Mutation_p.R145H|OSBPL9_ENST00000530544.1_Missense_Mutation_p.R229H|OSBPL9_ENST00000337809.4_Missense_Mutation_p.R315H|OSBPL9_ENST00000453295.1_Missense_Mutation_p.R293H	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	310					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TCCCCAAAGCGCTTAATAGAG	0.348													False	0	False	1:52231644	0	A	52231644	G	A	52231644	3	1	88	1	0	0	0	0	1	0	0	0	11352	1087	38	1	1079	1	OSBPL9	1	52231644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294278	52231644	197018977	580	8292											
OSBPL9	114883	broad.mit.edu	37	chr1	52237761	52237761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttctggatctgcctcaGtcctgacacacagcagctcg	9	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52237761G>A	ENST00000371710.3	+	13	1194	c.1012G>A	c.(1012-1014)Gtc>Atc	p.V338I	OSBPL9_ENST00000428468.1_Missense_Mutation_p.V320I|OSBPL9_ENST00000531828.1_Missense_Mutation_p.V155I|OSBPL9_ENST00000361556.5_Missense_Mutation_p.V210I|OSBPL9_ENST00000462759.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000486942.1_Missense_Mutation_p.V142I|OSBPL9_ENST00000447887.1_Missense_Mutation_p.V330I|OSBPL9_ENST00000371714.1_Missense_Mutation_p.V307I|OSBPL9_ENST00000435686.2_Missense_Mutation_p.V155I|OSBPL9_ENST00000530544.1_Missense_Mutation_p.V239I|OSBPL9_ENST00000337809.4_Missense_Mutation_p.V325I|OSBPL9_ENST00000453295.1_Missense_Mutation_p.V303I	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	320					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATCTGCCTCAGTCCTGACACA	0.393													False	0	False	1:52237761	0	A	52237761	G	A	52237761	3	1	88	1	0	0	0	0	1	0	0	0	11352	1029	36	2	1112	2	OSBPL9	1	52237761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6117	52237761	197012860	581	8293											
NRD1	4898	broad.mit.edu	37	chr1	52254946	52254946	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggggagaaggttgagtgTtgttgtgaaagccctgatat	16	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52254946T>G	ENST00000354831.7	-	33	3811	c.3622A>C	c.(3622-3624)Aca>Cca	p.T1208P	NRD1_ENST00000352171.7_Missense_Mutation_p.T1140P|NRD1_ENST00000539524.1_Missense_Mutation_p.T1076P|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	1139					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGGTTGAGTGTTGTTGTGAAA	0.398													False	0	True	1:52254946	0	G	52254946	T	G	52254946	3	3	88	1	0	0	0	0	1	0	0	0	10713	1725	60	4	41	4	NRD1	1	52254946	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17185	52254946	196995675	582	8294											
NRD1	4898	broad.mit.edu	37	chr1	52289401	52289401	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatccagaattctctcaatCtagcatgtgtatcaatatta	5	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52289401C>A	ENST00000354831.7	-	9	1487	c.1298G>T	c.(1297-1299)aGa>aTa	p.R433I	NRD1_ENST00000352171.7_Missense_Mutation_p.R365I|NRD1_ENST00000539524.1_Missense_Mutation_p.R301I|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.R233I	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	364					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTCTCTCAATCTAGCATGTGT	0.323													False	0	False	1:52289401	0	A	52289401	C	A	52289401	3	1	88	1	0	0	0	0	1	0	0	0	10713	913	32	3	2461	3	NRD1	1	52289401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34455	52289401	196961220	583	8295											
NRD1	4898	broad.mit.edu	37	chr1	52299774	52299774	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttgaggcattatcactacCcccatgcttcttcaggaagg	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52299774C>A	ENST00000354831.7	-	6	1174	c.985G>T	c.(985-987)Ggt>Tgt	p.G329C	NRD1_ENST00000352171.7_Missense_Mutation_p.G261C|NRD1_ENST00000539524.1_Missense_Mutation_p.G197C|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.G129C	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	260					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTATCACTACCCCCATGCTTC	0.403													False	0	True	1:52299774	0	A	52299774	C	A	52299774	3	1	88	1	0	0	0	0	1	0	0	0	10713	623	22	3	2786	3	NRD1	1	52299774	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10373	52299774	196950847	584	8296											
NRD1	4898	broad.mit.edu	37	chr1	52302111	52302111	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgctgaacaggtgcagacCtaaggaaaaaaagcagaaac	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52302111C>A	ENST00000354831.7	-	4	954		c.e4-1		NRD1_ENST00000352171.7_Intron|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGGTGCAGACCTAAGGAAAAA	0.463													False	0	False	1:52302111	0	A	52302111	C	A	52302111	5	1	88	1	0	0	0	0	0	0	1	0	10713	695	24	3	3015	3	NRD1	1	52302111	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2337	52302111	196948510	585	8297											
KTI12	112970	broad.mit.edu	37	chr1	52499330	52499330	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacagctgcgtcgtccAccacgtacaccgcgcggccc	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52499330A>G	ENST00000371614.1	-	1	158	c.104T>C	c.(103-105)gTg>gCg	p.V35A	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000610127.1_3'UTR	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	35							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						TGCGTCGTCCACCACGTACAC	0.687													False	0	False	1:52499330	0	G	52499330	A	G	52499330	3	3	88	1	0	0	0	0	1	0	0	0	8635	159	6	4	964	4	KTI12	1	52499330	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	197219	52499330	196751291	586	8298											
ZFYVE9	9372	broad.mit.edu	37	chr1	52703719	52703719	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaaaagatatgaattcagaGaaacaaatggatccattgaa	8	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52703719G>T	ENST00000287727.3	+	4	802	c.630G>T	c.(628-630)gaG>gaT	p.E210D	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.E210D|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E210D			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	210					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGAATTCAGAGAAACAAATGG	0.368													False	0	True	1:52703719	0	T	52703719	G	T	52703719	3	4	88	1	0	0	0	0	1	0	0	0	17754	933	33	3	636	3	ZFYVE9	1	52703719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204389	52703719	196546902	587	8299											
ZFYVE9	9372	broad.mit.edu	37	chr1	52703750	52703750	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atccattgaatagaccgaaaAcagaggggagatctgttaac	10	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52703750A>C	ENST00000287727.3	+	4	833	c.661A>C	c.(661-663)Aca>Cca	p.T221P	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.T221P|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.T221P			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	221					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TAGACCGAAAACAGAGGGGAG	0.373													False	0	True	1:52703750	0	C	52703750	A	C	52703750	3	2	88	1	0	0	0	0	1	0	0	0	17754	43	2	4	667	4	ZFYVE9	1	52703750	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31	52703750	196546871	588	8300											
CC2D1B	200014	broad.mit.edu	37	chr1	52824024	52824024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcctcgtctttatcagcCggggctgaatcctctgcaga	10	13	3	2	rs140467530	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52824024C>T	ENST00000371586.2	-	13	1578	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.P480P|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	480								p.P480P(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTTTATCAGCCGGGGCTGAAT	0.582													False	0	True	1:52824024	0	T	52824024	C	T	52824024	2	4	88	1	0	0	0	0	0	0	0	1	2747	639	23	1		1	CC2D1B	1	52824024	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120274	52824024	196426597	589	8301											
CC2D1B	200014	broad.mit.edu	37	chr1	52824952	52824952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggacgtcaggggccatcaCtggctgcactcgctccacgg	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52824952C>T	ENST00000371586.2	-	10	1234	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	CC2D1B_ENST00000438831.1_De_novo_Start_InFrame|CC2D1B_ENST00000284376.3_Missense_Mutation_p.V366M|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	366										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGGGCCATCACTGGCTGCACT	0.652													False	0	False	1:52824952	0	T	52824952	C	T	52824952	3	4	88	1	0	0	0	0	1	0	0	0	2747	565	20	2	1540	2	CC2D1B	1	52824952	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	928	52824952	196425669	590	8302											
ZCCHC11	23318	broad.mit.edu	37	chr1	52896778	52896778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgttagggattgccacagGtctggcagcaggctgtgcaa	15	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52896778G>A	ENST00000371544.3	-	28	4877	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P1540S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1539	Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATTGCCACAGGTCTGGCAGCA	0.557													False	0	False	1:52896778	0	A	52896778	G	A	52896778	3	1	88	1	0	0	0	0	1	0	0	0	17663	1261	44	2	331	2	ZCCHC11	1	52896778	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71826	52896778	196353843	591	8303											
ZCCHC11	23318	broad.mit.edu	37	chr1	52941046	52941046	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtttcttattgcttatttTccccttctctcttttcttga	4	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52941046T>C	ENST00000371544.3	-	13	2447	c.2185A>G	c.(2185-2187)Aaa>Gaa	p.K729E	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.K729E	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	729					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTGCTTATTTTCCCCTTCTCT	0.408													False	0	True	1:52941046	0	C	52941046	T	C	52941046	3	2	88	1	0	0	0	0	1	0	0	0	17663	1792	62	4	2824	4	ZCCHC11	1	52941046	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44268	52941046	196309575	592	8304											
ZCCHC11	23318	broad.mit.edu	37	chr1	52991459	52991459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtctttcaacagtaaaCtgggtcccttttctgcttct	6	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52991459C>T	ENST00000371544.3	-	2	756	c.494G>A	c.(493-495)aGt>aAt	p.S165N	ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S165N|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S165N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	165					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAACAGTAAACTGGGTCCCTT	0.383													False	0	True	1:52991459	0	T	52991459	C	T	52991459	3	4	88	1	0	0	0	0	1	0	0	0	17663	565	20	2	4559	2	ZCCHC11	1	52991459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50413	52991459	196259162	593	8305											
FAM159A	348378	broad.mit.edu	37	chr1	53108559	53108559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctctcataggcctgtcCgtagcagcagtggttcttct	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53108559C>T	ENST00000517870.1	+	2	357	c.207C>T	c.(205-207)tcC>tcT	p.S69S	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	69						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TAGGCCTGTCCGTAGCAGCAG	0.522													False	0	False	1:53108559	0	T	53108559	C	T	53108559	2	4	88	1	0	0	0	0	0	0	0	1	5504	639	23	1		1	FAM159A	1	53108559	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117100	53108559	196142062	594	8306											
FAM159A	348378	broad.mit.edu	37	chr1	53122577	53122577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacccgcagctggagagCaatgaggggcaggctgtgaa	16	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53122577C>T	ENST00000517870.1	+	3	588	c.438C>T	c.(436-438)agC>agT	p.S146S	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	146						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGCTGGAGAGCAATGAGGGGC	0.577													False	0	False	1:53122577	0	T	53122577	C	T	53122577	2	4	88	1	0	0	0	0	0	0	0	1	5504	709	25	2		2	FAM159A	1	53122577	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14018	53122577	196128044	595	8307											
ZYG11B	79699	broad.mit.edu	37	chr1	53237304	53237304	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catcctacctaaccttgtttCtctggatgtttctgggagaa	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53237304C>T	ENST00000294353.6	+	3	954	c.809C>T	c.(808-810)tCt>tTt	p.S270F	ZYG11B_ENST00000443756.2_Missense_Mutation_p.S270F|ZYG11B_ENST00000545132.1_Missense_Mutation_p.S270F	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	270							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AACCTTGTTTCTCTGGATGTT	0.393													False	0	True	1:53237304	0	T	53237304	C	T	53237304	3	4	88	1	0	0	0	0	1	0	0	0	18335	913	32	2	819	2	ZYG11B	1	53237304	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114727	53237304	196013317	596	8308											
ZYG11B	79699	broad.mit.edu	37	chr1	53262444	53262444	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcacagcttggtactgagctCttcattgtcagggtaagtct	11	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53262444C>T	ENST00000294353.6	+	8	1618	c.1473C>T	c.(1471-1473)ctC>ctT	p.L491L	ZYG11B_ENST00000443756.2_Silent_p.L491L|ZYG11B_ENST00000545132.1_Silent_p.L491L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	491							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GTACTGAGCTCTTCATTGTCA	0.338													False	0	False	1:53262444	0	T	53262444	C	T	53262444	2	4	88	1	0	0	0	0	0	0	0	1	18335	900	32	2		2	ZYG11B	1	53262444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25140	53262444	195988177	597	8309											
ECHDC2	55268	broad.mit.edu	37	chr1	53370467	53370467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgagctccttcgccaGggccacccccagacaacggg	12	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53370467G>A	ENST00000536120.1	-	10	1232	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	ECHDC2_ENST00000371522.4_Silent_p.L185L|ECHDC2_ENST00000358358.5_Silent_p.L154L			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	185					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TCCTTCGCCAGGGCCACCCCC	0.637													False	0	True	1:53370467	0	A	53370467	G	A	53370467	2	1	88	1	0	0	0	0	0	0	0	1	4924	991	35	2		2	ECHDC2	1	53370467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108023	53370467	195880154	598	8310											
SCP2	6342	broad.mit.edu	37	chr1	53443951	53443951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatttgtacagaagtatgGcctgcaatccaaagctgtgg	11	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53443951G>A	ENST00000371514.3	+	9	905	c.737G>A	c.(736-738)gGc>gAc	p.G246D	SCP2_ENST00000528311.1_Missense_Mutation_p.G165D|SCP2_ENST00000371509.4_Missense_Mutation_p.G202D|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000371513.5_Missense_Mutation_p.G202D|SCP2_ENST00000407246.2_Missense_Mutation_p.G222D	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	246					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CAGAAGTATGGCCTGCAATCC	0.408													False	0	False	1:53443951	0	A	53443951	G	A	53443951	3	1	88	1	0	0	0	0	1	0	0	0	14015	1203	42	2	771	2	SCP2	1	53443951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73484	53443951	195806670	599	8311											
SLC1A7	6512	broad.mit.edu	37	chr1	53556405	53556405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcacccacgggcagcaCgaagcgagcgatgcgccggt	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53556405C>T	ENST00000371494.4	-	8	1232	c.1105G>A	c.(1105-1107)Gtg>Atg	p.V369M	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	369						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	ACGGGCAGCACGAAGCGAGCG	0.617													False	0	False	1:53556405	0	T	53556405	C	T	53556405	3	4	88	1	0	0	0	0	1	0	0	0	14518	536	19	1	593	1	SLC1A7	1	53556405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112454	53556405	195694216	600	8312											
SLC1A7	6512	broad.mit.edu	37	chr1	53608004	53608004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctgtggtgagaggcgccGggtcctcaagaagaagccga	16	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53608004G>A	ENST00000371494.4	-	1	245	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	SLC1A7_ENST00000371491.4_Missense_Mutation_p.R40W	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	40						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GAGAGGCGCCGGGTCCTCAAG	0.647													False	0	True	1:53608004	0	A	53608004	G	A	53608004	3	1	88	1	0	0	0	0	1	0	0	0	14518	1115	39	1	1608	1	SLC1A7	1	53608004	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51599	53608004	195642617	601	8313											
CPT2	1376	broad.mit.edu	37	chr1	53676305	53676305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagcctgaggaaagtggactCggcagtgttctgtctctgcc	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53676305C>T	ENST00000371486.3	+	4	1474	c.959C>T	c.(958-960)tCg>tTg	p.S320L	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	320					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AAAGTGGACTCGGCAGTGTTC	0.537													False	0	False	1:53676305	0	T	53676305	C	T	53676305	3	4	88	1	0	0	0	0	1	0	0	0	3857	893	31	1	973	1	CPT2	1	53676305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68301	53676305	195574316	602	8314											
LRP8	7804	broad.mit.edu	37	chr1	53716509	53716509	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctccagatcaggtatccActcatgcacaggagggctat	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53716509A>G	ENST00000306052.6	-	17	2630	c.2529T>C	c.(2527-2529)agT>agC	p.S843S	LRP8_ENST00000347547.2_Silent_p.S673S|LRP8_ENST00000354412.3_Silent_p.S639S|LRP8_ENST00000465675.1_Silent_p.S396S|LRP8_ENST00000371454.2_Silent_p.S843S	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	843					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCAGGTATCCACTCATGCACA	0.498													False	0	False	1:53716509	0	G	53716509	A	G	53716509	2	3	88	1	0	0	0	0	0	0	0	1	9025	156	6	4		4	LRP8	1	53716509	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40204	53716509	195534112	603	8315											
LRP8	7804	broad.mit.edu	37	chr1	53746293	53746293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatccgctccaccctcGcagtccttctccccgtcgca	6	22	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53746293G>A	ENST00000306052.6	-	4	563	c.462C>T	c.(460-462)tgC>tgT	p.C154C	LRP8_ENST00000347547.2_Silent_p.C154C|LRP8_ENST00000354412.3_Silent_p.C154C|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.C154C	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	154	LDL-receptor class A 3.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTCCACCCTCGCAGTCCTTCT	0.642													False	0	False	1:53746293	0	A	53746293	G	A	53746293	2	1	88	1	0	0	0	0	0	0	0	1	9025	1079	38	1		1	LRP8	1	53746293	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29784	53746293	195504328	604	8316											
GLIS1	148979	broad.mit.edu	37	chr1	53975654	53975654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcggcggtggccccaGccccttcagggggctgacta	17	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53975654G>A	ENST00000312233.2	-	8	1971	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	469	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGTGGCCCCAGCCCCTTCAGG	0.687													False	0	True	1:53975654	0	A	53975654	G	A	53975654	2	1	88	1	0	0	0	0	0	0	0	1	6490	962	34	2		2	GLIS1	1	53975654	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	229361	53975654	195274967	605	8317											
YIPF1	54432	broad.mit.edu	37	chr1	54344385	54344385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggggagcttttcttctgtCcagcaagtaactgtcagaaa	11	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54344385C>T	ENST00000072644.1	-	5	542	c.206G>A	c.(205-207)gGa>gAa	p.G69E	YIPF1_ENST00000539954.1_Missense_Mutation_p.G94E|YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000469457.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	69						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TTTCTTCTGTCCAGCAAGTAA	0.393													False	0	False	1:54344385	0	T	54344385	C	T	54344385	3	4	88	1	0	0	0	0	1	0	0	0	17561	855	30	2	738	2	YIPF1	1	54344385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	368731	54344385	194906236	606	8318											
HSPB11	51668	broad.mit.edu	37	chr1	54387388	54387388	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcacagatgcaaaatgaTcaaaggctgatacaataatg	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54387388T>G	ENST00000194214.5	-	6	760	c.371A>C	c.(370-372)gAt>gCt	p.D124A	HSPB11_ENST00000489675.1_5'UTR|HSPB11_ENST00000371378.2_Intron	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	124					cell adhesion|response to stress					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TGCAAAATGATCAAAGGCTGA	0.348													False	0	False	1:54387388	0	G	54387388	T	G	54387388	3	3	88	1	0	0	0	0	1	0	0	0	7468	1435	50	4	67	4	HSPB11	1	54387388	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43003	54387388	194863233	607	8319											
LRRC42	115353	broad.mit.edu	37	chr1	54418090	54418090	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggctgagggctttacagAaattcactgaggcctatgga	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54418090A>C	ENST00000371370.3	+	3	939	c.418A>C	c.(418-420)Aaa>Caa	p.K140Q	LRRC42_ENST00000319223.4_Missense_Mutation_p.K140Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	140										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GGCTTTACAGAAATTCACTGA	0.463													False	0	True	1:54418090	0	C	54418090	A	C	54418090	3	2	88	1	0	0	0	0	1	0	0	0	9062	247	9	4	420	4	LRRC42	1	54418090	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30702	54418090	194832531	608	8320											
LRRC42	115353	broad.mit.edu	37	chr1	54426034	54426034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgtttccctagtgtaaCtcagctccacctgaaggata	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54426034C>T	ENST00000371370.3	+	5	1132	c.611C>T	c.(610-612)aCt>aTt	p.T204I	LRRC42_ENST00000319223.4_Missense_Mutation_p.T204I	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	204										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CCTAGTGTAACTCAGCTCCAC	0.358													False	0	False	1:54426034	0	T	54426034	C	T	54426034	3	4	88	1	0	0	0	0	1	0	0	0	9062	565	20	2	621	2	LRRC42	1	54426034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7944	54426034	194824587	609	8321											
LRRC42	115353	broad.mit.edu	37	chr1	54433606	54433606	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactgggacttgttaaattcCtattgattagtagatacaag	9	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54433606C>A	ENST00000371370.3	+	9	1802	c.1281C>A	c.(1279-1281)tcC>tcA	p.S427S	LRRC42_ENST00000319223.4_Silent_p.S427S	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	427				KYVCLAVEDWDLLNSY -> IFLLLWCGRGMLWKYVIISNV YFQYIVIFSNKHFCCP (in Ref. 1).						breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGTTAAATTCCTATTGATTAG	0.388													False	0	False	1:54433606	0	A	54433606	C	A	54433606	2	1	88	1	0	0	0	0	0	0	0	1	9062	668	24	3		3	LRRC42	1	54433606	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7572	54433606	194817015	610	8322											
LDLRAD1	388633	broad.mit.edu	37	chr1	54474776	54474776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaggacagcgccaccacCcagggccgcagggtgggcac	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54474776C>T	ENST00000371360.1	-	6	514	c.497G>A	c.(496-498)gGg>gAg	p.G166E	LDLRAD1_ENST00000420619.1_Missense_Mutation_p.G127E|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.G77E|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.G123E	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	166	LDL-receptor class A 3; atypical.					integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						GCGCCACCACCCAGGGCCGCA	0.597													False	0	True	1:54474776	0	T	54474776	C	T	54474776	3	4	88	1	0	0	0	0	1	0	0	0	8756	623	22	2	124	2	LDLRAD1	1	54474776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41170	54474776	194775845	611	8323											
TMEM59	9528	broad.mit.edu	37	chr1	54518711	54518711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtaggtcaactgacaggCccggtggcaagacgccgtat	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54518711C>T	ENST00000234831.5	-	1	400	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	TMEM59_ENST00000371341.1_Intron|TMEM59_ENST00000371337.3_Missense_Mutation_p.A51T	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	51						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AACTGACAGGCCCGGTGGCAA	0.647													False	0	True	1:54518711	0	T	54518711	C	T	54518711	3	4	88	1	0	0	0	0	1	0	0	0	16267	739	26	2	852	2	TMEM59	1	54518711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43935	54518711	194731910	612	8324											
CDCP2	200008	broad.mit.edu	37	chr1	54606931	54606931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaagcacagccacgtaGtcataggtgcactcttcatt	7	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54606931G>A	ENST00000371330.1	-	3	1450	c.603C>T	c.(601-603)gaC>gaT	p.D201D	RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	201	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CAGCCACGTAGTCATAGGTGC	0.662													False	0	False	1:54606931	0	A	54606931	G	A	54606931	2	1	88	1	0	0	0	0	0	0	0	1	3117	1020	36	2		2	CDCP2	1	54606931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88220	54606931	194643690	613	8325											
CYB5RL	606495	broad.mit.edu	37	chr1	54640324	54640324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggagtcctcagtgaggcCtgcgcacagtaagcacctgg	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54640324C>T	ENST00000419823.2	-	7	1140	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	CYB5RL_ENST00000401046.3_Missense_Mutation_p.G158S|CYB5RL_ENST00000287899.8_Missense_Mutation_p.G238S|CYB5RL_ENST00000537208.1_Missense_Mutation_p.G238S|CYB5RL_ENST00000542737.1_Missense_Mutation_p.G306S|CYB5RL_ENST00000534324.1_Missense_Mutation_p.G306S|RP11-446E24.4_ENST00000311841.7_Intron	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	306							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TCAGTGAGGCCTGCGCACAGT	0.557													False	0	False	1:54640324	0	T	54640324	C	T	54640324	3	4	88	1	0	0	0	0	1	0	0	0	4155	681	24	2	35	2	CYB5RL	1	54640324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33393	54640324	194610297	614	8326											
MRPL37	51253	broad.mit.edu	37	chr1	54670848	54670848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctctggcagaccactgaGgaaatccccaagagagagac	11	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54670848G>A	ENST00000605337.1	+	2	552	c.504G>A	c.(502-504)gaG>gaA	p.E168E	MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000360840.5_Silent_p.E168E|MRPL37_ENST00000336230.6_Intron			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	168					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						AGACCACTGAGGAAATCCCCA	0.473													False	0	False	1:54670848	0	A	54670848	G	A	54670848	2	1	88	1	0	0	0	0	0	0	0	1	9867	991	35	2		2	MRPL37	1	54670848	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30524	54670848	194579773	615	8327											
FAM151A	338094	broad.mit.edu	37	chr1	55075382	55075382	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccccaacccacacaggCcaatgcaagaggccaaggct	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55075382C>T	ENST00000302250.2	-	8	1477	c.1317G>A	c.(1315-1317)tgG>tgA	p.W439*	ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000481208.1_3'UTR|FAM151A_ENST00000371304.2_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	439						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCCACACAGGCCAATGCAAGA	0.637													False	0	False	1:55075382	0	T	55075382	C	T	55075382	4	4	88	1	0	0	0	0	0	1	0	0	5494	740	26	2	444	2	FAM151A	1	55075382	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	404534	55075382	194175239	616	8328											
FAM151A	338094	broad.mit.edu	37	chr1	55080452	55080452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccatatgggccgccggaCtttgccttcctctgtcagct	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55080452C>T	ENST00000302250.2	-	4	656	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.V166I	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	166						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGCCGCCGGACTTTGCCTTCC	0.557													False	0	True	1:55080452	0	T	55080452	C	T	55080452	3	4	88	1	0	0	0	0	1	0	0	0	5494	565	20	2	1281	2	FAM151A	1	55080452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5070	55080452	194170169	617	8329											
TTC4	7268	broad.mit.edu	37	chr1	55194081	55194081	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggagaggaatcagaaTgaggctttactccaggccat	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55194081T>C	ENST00000371281.3	+	6	744	c.657T>C	c.(655-657)aaT>aaC	p.N219N	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	219							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GGAATCAGAATGAGGCTTTAC	0.408													False	0	False	1:55194081	0	C	55194081	T	C	55194081	2	2	88	1	0	0	0	0	0	0	0	1	16794	1461	51	4		4	TTC4	1	55194081	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	113629	55194081	194056540	618	8330											
PARS2	25973	broad.mit.edu	37	chr1	55224511	55224511	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggcccccgatggcctgcatCtcctggtctatcactcgcac	9	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55224511C>A	ENST00000371279.3	-	2	406	c.324G>T	c.(322-324)gaG>gaT	p.E108D		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	108					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TGGCCTGCATCTCCTGGTCTA	0.617													False	0	False	1:55224511	0	A	55224511	C	A	55224511	3	1	88	1	0	0	0	0	1	0	0	0	11535	912	32	3	1107	3	PARS2	1	55224511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30430	55224511	194026110	619	8331											
DHCR24	1718	broad.mit.edu	37	chr1	55319794	55319794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccacgtggtgctgctcGtacagcttgcgcagggtctc	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55319794G>A	ENST00000371269.3	-	7	1232	c.1134C>T	c.(1132-1134)taC>taT	p.Y378Y	DHCR24_ENST00000537443.1_Silent_p.Y162Y|DHCR24_ENST00000535035.1_Silent_p.Y337Y	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	378					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GGTGCTGCTCGTACAGCTTGC	0.607													False	0	False	1:55319794	0	A	55319794	G	A	55319794	2	1	88	1	0	0	0	0	0	0	0	1	4506	1140	40	1		1	DHCR24	1	55319794	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95283	55319794	193930827	620	8332											
PCSK9	255738	broad.mit.edu	37	chr1	55523714	55523714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccctgcaccaggcattGcagccatgatgctgtctgcc	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55523714G>A	ENST00000302118.5	+	8	1476	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.A196T	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	396	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ACCAGGCATTGCAGCCATGAT	0.592													False	0	False	1:55523714	0	A	55523714	G	A	55523714	3	1	88	1	0	0	0	0	1	0	0	0	11674	1319	46	2	1216	2	PCSK9	1	55523714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203920	55523714	193726907	621	8333											
USP24	23358	broad.mit.edu	37	chr1	55563334	55563334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacccaaatctcattagGtgaattaccaagacgctagg	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55563334G>A	ENST00000294383.6	-	48	5651	c.5652C>T	c.(5650-5652)caC>caT	p.H1884H	USP24_ENST00000407756.1_Silent_p.H1724H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1884					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATCTCATTAGGTGAATTACCA	0.338													False	0	False	1:55563334	0	A	55563334	G	A	55563334	2	1	88	1	0	0	0	0	0	0	0	1	17139	1252	44	2		2	USP24	1	55563334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39620	55563334	193687287	622	8334											
USP24	23358	broad.mit.edu	37	chr1	55569592	55569592	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtcaggctggtgatgcataGaaagcagttcttttataata	11	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55569592G>T	ENST00000294383.6	-	42	4981	c.4982C>A	c.(4981-4983)tCt>tAt	p.S1661Y	USP24_ENST00000407756.1_Missense_Mutation_p.S1501Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1661					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTGATGCATAGAAAGCAGTTC	0.378													False	0	True	1:55569592	0	T	55569592	G	T	55569592	3	4	88	1	0	0	0	0	1	0	0	0	17139	942	33	3	2988	3	USP24	1	55569592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6258	55569592	193681029	623	8335											
USP24	23358	broad.mit.edu	37	chr1	55589226	55589226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtcgaacacagattccCgcatgcagggctactggttc	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55589226C>T	ENST00000294383.6	-	36	4169	c.4170G>A	c.(4168-4170)gcG>gcA	p.A1390A	USP24_ENST00000407756.1_Silent_p.A1230A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1390					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.A1390A(1)|p.A1307A(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CACAGATTCCCGCATGCAGGG	0.493													False	0	True	1:55589226	0	T	55589226	C	T	55589226	2	4	88	1	0	0	0	0	0	0	0	1	17139	639	23	1		1	USP24	1	55589226	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19634	55589226	193661395	624	8336											
USP24	23358	broad.mit.edu	37	chr1	55620367	55620367	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaatgagaacaaacaaatGattaagctgatctgaattaa	7	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55620367G>T	ENST00000294383.6	-	13	1530	c.1531C>A	c.(1531-1533)Cat>Aat	p.H511N	USP24_ENST00000407756.1_Missense_Mutation_p.H399N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	511					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACAAACAAATGATTAAGCTGA	0.363													False	0	False	1:55620367	0	T	55620367	G	T	55620367	3	4	88	1	0	0	0	0	1	0	0	0	17139	1290	45	3	6555	3	USP24	1	55620367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31141	55620367	193630254	625	8337											
PPAP2B	8613	broad.mit.edu	37	chr1	56977739	56977739	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atacgcgagacagtcccgtgTagaaggccatcatgatcaag	11	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:56977739T>C	ENST00000371250.3	-	5	1270	c.719A>G	c.(718-720)tAc>tGc	p.Y240C	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	240					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CAGTCCCGTGTAGAAGGCCAT	0.582													False	0	False	1:56977739	0	C	56977739	T	C	56977739	3	2	88	1	0	0	0	0	1	0	0	0	12360	1638	57	4	224	4	PPAP2B	1	56977739	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1357372	56977739	192272882	626	8338											
PPAP2B	8613	broad.mit.edu	37	chr1	56990067	56990067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaagtgaggacgcaggcGccctatggacactttggcaa	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:56990067G>A	ENST00000371250.3	-	3	1008	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	153					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GGACGCAGGCGCCCTATGGAC	0.517													False	0	True	1:56990067	0	A	56990067	G	A	56990067	3	1	88	1	0	0	0	0	1	0	0	0	12360	1087	38	1	494	1	PPAP2B	1	56990067	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12328	56990067	192260554	627	8339											
PRKAA2	5563	broad.mit.edu	37	chr1	57170116	57170116	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattatggctgaagtttacCgagctatgaagcagctggat	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57170116C>T	ENST00000371244.4	+	7	1327	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	421					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TGAAGTTTACCGAGCTATGAA	0.383													False	0	False	1:57170116	0	T	57170116	C	T	57170116	4	4	88	1	0	0	0	0	0	1	0	0	12570	644	23	1	1287	1	PRKAA2	1	57170116	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180049	57170116	192080505	628	8340											
C8A	731	broad.mit.edu	37	chr1	57340669	57340669	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacaagtttgggggaaccatCtgcagtggtgacatctggga	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57340669C>T	ENST00000361249.3	+	3	315	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	73	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGGGAACCATCTGCAGTGGTG	0.478													False	0	False	1:57340669	0	T	57340669	C	T	57340669	2	4	88	1	0	0	0	0	0	0	0	1	2435	903	32	2		2	C8A	1	57340669	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170553	57340669	191909952	629	8341											
C8A	731	broad.mit.edu	37	chr1	57378188	57378188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatggaattcaatgcctgccGatgtgggccttgcttcaaca	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57378188G>A	ENST00000361249.3	+	10	1589	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	498	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.R498Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AATGCCTGCCGATGTGGGCCT	0.632													False	0	True	1:57378188	0	A	57378188	G	A	57378188	3	1	88	1	0	0	0	0	1	0	0	0	2435	1058	37	1	1531	1	C8A	1	57378188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37519	57378188	191872433	630	8342											
C8A	731	broad.mit.edu	37	chr1	57383318	57383318	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaaaggagaagagagTgtgacaatccagcacctcag	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57383318T>G	ENST00000361249.3	+	11	1780	c.1684T>G	c.(1684-1686)Tgt>Ggt	p.C562G		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	562	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGAAGAGAGTGTGACAATCC	0.577													False	0	True	1:57383318	0	G	57383318	T	G	57383318	3	3	88	1	0	0	0	0	1	0	0	0	2435	1696	59	4	1726	4	C8A	1	57383318	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5130	57383318	191867303	631	8343											
OMA1	115209	broad.mit.edu	37	chr1	59004545	59004545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccggagcagcttgaaacCgtggagaagtatggaaattc	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:59004545C>T	ENST00000371226.3	-	2	535	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	OMA1_ENST00000467063.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.R141Q|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	141					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					AGCTTGAAACCGTGGAGAAGT	0.393													False	0	False	1:59004545	0	T	59004545	C	T	59004545	3	4	88	1	0	0	0	0	1	0	0	0	10932	652	23	1	1184	1	OMA1	1	59004545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1621227	59004545	190246076	632	8344											
FGGY	55277	broad.mit.edu	37	chr1	60139717	60139717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcctgcgcaggcatgcCtgtggtcctgtcgcaagagg	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60139717C>T	ENST00000371218.4	+	15	1680	c.1496C>T	c.(1495-1497)cCt>cTt	p.P499L	FGGY_ENST00000371212.1_Missense_Mutation_p.P387L|FGGY_ENST00000303721.7_Missense_Mutation_p.P475L|FGGY_ENST00000371210.1_Missense_Mutation_p.P176L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	475					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GCAGGCATGCCTGTGGTCCTG	0.582													False	0	False	1:60139717	0	T	60139717	C	T	60139717	3	4	88	1	0	0	0	0	1	0	0	0	5911	681	24	2	1550	2	FGGY	1	60139717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1135172	60139717	189110904	633	8345											
HOOK1	51361	broad.mit.edu	37	chr1	60330860	60330860	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aactcacagaggtccatgaaGaattacagaagaaacaagaa	8	7	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60330860G>T	ENST00000371208.3	+	18	1944	c.1687G>T	c.(1687-1689)Gaa>Taa	p.E563*	HOOK1_ENST00000395561.2_Nonsense_Mutation_p.E521*|HOOK1_ENST00000465876.1_Intron	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	563					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GGTCCATGAAGAATTACAGAA	0.383													False	0	False	1:60330860	0	T	60330860	G	T	60330860	4	4	88	1	0	0	0	0	0	1	0	0	7329	943	33	3	1757	3	HOOK1	1	60330860	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191143	60330860	188919761	634	8346											
CYP2J2	1573	broad.mit.edu	37	chr1	60377919	60377919	+	Missense_Mutation	SNP	C	C	A													ttctttcctaaaccaaagttCcttagtgctgtcagagtgaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60377919C>A	ENST00000371204.3	-	3	481	c.438G>T	c.(436-438)agG>agT	p.R146S	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	146					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AACCAAAGTTCCTTAGTGCTG	0.438													False	0	False	1:60377919	0	A	60377919	C	A	60377919	3	1	88	1	0	0	0	0	1	0	0	0	4197	854	30	3	1098	3	CYP2J2	1	60377919	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47059	60377919	188872702	635	8347	143	2									
CYP2J2	1573	broad.mit.edu	37	chr1	60377927	60377927	+	Missense_Mutation	SNP	C	C	T													taaaccaaagttccttagtgCtgtcagagtgaaccttcttt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60377927C>T	ENST00000371204.3	-	3	473	c.430G>A	c.(430-432)Gca>Aca	p.A144T	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	144					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TTCCTTAGTGCTGTCAGAGTG	0.438													False	0	False	1:60377927	0	T	60377927	C	T	60377927	3	4	88	1	0	0	0	0	1	0	0	0	4197	797	28	2	1106	2	CYP2J2	1	60377927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	60377927	188872694	636	8348	143	2									
CYP2J2	1573	broad.mit.edu	37	chr1	60392254	60392254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagtccacaaggaagaaGttgccaaggaagggcaggcg	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60392254G>A	ENST00000371204.3	-	1	208	c.165C>T	c.(163-165)aaC>aaT	p.N55N		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	55					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					CAAGGAAGAAGTTGCCAAGGA	0.592													False	0	False	1:60392254	0	A	60392254	G	A	60392254	2	1	88	1	0	0	0	0	0	0	0	1	4197	1020	36	2		2	CYP2J2	1	60392254	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14327	60392254	188858367	637	8349											
INADL	10207	broad.mit.edu	37	chr1	62366960	62366960	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttcctttatatagtgttgaGatttttagagaacccaatgt	7	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62366960G>A	ENST00000371158.2	+	24	3324	c.3210G>A	c.(3208-3210)gaG>gaA	p.E1070E	INADL_ENST00000316485.6_Silent_p.E1070E	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1070	PDZ 6.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATAGTGTTGAGATTTTTAGAG	0.338													False	0	False	1:62366960	0	A	62366960	G	A	62366960	2	1	88	1	0	0	0	0	0	0	0	1	7781	933	33	2		2	INADL	1	62366960	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1974706	62366960	186883661	638	8350											
KANK4	163782	broad.mit.edu	37	chr1	62739298	62739298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagttcagtggagaggaagCtatgtacagaggaggtaagg	17	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62739298C>A	ENST00000371153.4	-	3	1856	c.1478G>T	c.(1477-1479)aGc>aTc	p.S493I	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	493										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGAGAGGAAGCTATGTACAGA	0.577													False	0	False	1:62739298	0	A	62739298	C	A	62739298	3	1	88	1	0	0	0	0	1	0	0	0	8029	797	28	3	1541	3	KANK4	1	62739298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372338	62739298	186511323	639	8351											
DOCK7	85440	broad.mit.edu	37	chr1	62941521	62941521	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgtacagtacatgaatcGacgaagattgtaatttttgt	11	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62941521G>A	ENST00000251157.5	-	45	5818	c.5785C>T	c.(5785-5787)Cga>Tga	p.R1929*	DOCK7_ENST00000340370.5_Nonsense_Mutation_p.R1909*|DOCK7_ENST00000489185.1_5'UTR	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1940	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TACATGAATCGACGAAGATTG	0.403													False	0	False	1:62941521	0	A	62941521	G	A	62941521	4	1	88	1	0	0	0	0	0	1	0	0	4722	1066	37	1	624	1	DOCK7	1	62941521	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202223	62941521	186309100	640	8352											
DOCK7	85440	broad.mit.edu	37	chr1	62953075	62953075	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaacattacctacctcccaGccagtactctgtataataaa	3	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62953075G>T	ENST00000340370.5	-	42	5426	c.5409C>A	c.(5407-5409)ggC>ggA	p.G1803G	DOCK7_ENST00000251157.5_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1834	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTACCTCCCAGCCAGTACTCT	0.348													False	0	True	1:62953075	0	T	62953075	G	T	62953075	2	4	88	1	0	0	0	0	0	0	0	1	4722	958	34	3		3	DOCK7	1	62953075	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11554	62953075	186297546	641	8353											
ANGPTL3	27329	broad.mit.edu	37	chr1	63069843	63069843	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcccggaaaacaaagatTtggtgttttctacttgggat	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63069843T>G	ENST00000371129.3	+	6	1215	c.1135T>G	c.(1135-1137)Ttg>Gtg	p.L379V	DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron|ANGPTL3_ENST00000493994.1_3'UTR	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	379	Fibrinogen C-terminal.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AAACAAAGATTTGGTGTTTTC	0.373													False	0	True	1:63069843	0	G	63069843	T	G	63069843	3	3	88	1	0	0	0	0	1	0	0	0	615	1838	64	4	1157	4	ANGPTL3	1	63069843	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	116768	63069843	186180778	642	8354											
DOCK7	85440	broad.mit.edu	37	chr1	63113959	63113959	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctaccccttggggtatcatCtattgacattgaacgtcttt	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63113959C>T	ENST00000251157.5	-	6	583	c.550G>A	c.(550-552)Gat>Aat	p.D184N	DOCK7_ENST00000340370.5_Missense_Mutation_p.D184N|DOCK7_ENST00000404627.2_Missense_Mutation_p.D184N	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	184					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGGGTATCATCTATTGACATT	0.318													False	0	False	1:63113959	0	T	63113959	C	T	63113959	3	4	88	1	0	0	0	0	1	0	0	0	4722	913	32	2	5955	2	DOCK7	1	63113959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44116	63113959	186136662	643	8355											
FOXD3	27022	broad.mit.edu	37	chr1	63789347	63789347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagatcccccgcgagccGggcaacccgggcaagggcaa	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63789347G>A	ENST00000371116.2	+	1	618	c.618G>A	c.(616-618)ccG>ccA	p.P206P	RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	206					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCGCGAGCCGGGCAACCCGG	0.637													False	0	True	1:63789347	0	A	63789347	G	A	63789347	2	1	88	1	0	0	0	0	0	0	0	1	6038	1103	39	1		1	FOXD3	1	63789347	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	675388	63789347	185461274	644	8356											
ITGB3BP	23421	broad.mit.edu	37	chr1	63955760	63955760	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgttcaactaaccatttgAtagtccatttctgtgctttt	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63955760A>G	ENST00000371092.3	-	4	355	c.295T>C	c.(295-297)Tca>Cca	p.S99P	ITGB3BP_ENST00000283568.8_Missense_Mutation_p.S60P|ITGB3BP_ENST00000271002.10_Missense_Mutation_p.S60P	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	60					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TAACCATTTGATAGTCCATTT	0.328													False	0	False	1:63955760	0	G	63955760	A	G	63955760	3	3	88	1	0	0	0	0	1	0	0	0	7946	333	12	4	379	4	ITGB3BP	1	63955760	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	166413	63955760	185294861	645	8357											
EFCAB7	84455	broad.mit.edu	37	chr1	64027454	64027454	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctaatggaagctaatgatCgagaaggagatccttgtgac	11	6	1	4	rs144850202	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64027454C>T	ENST00000371088.4	+	11	1669	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	475							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AGCTAATGATCGAGAAGGAGA	0.353													False	0	False	1:64027454	0	T	64027454	C	T	64027454	4	4	88	1	0	0	0	0	0	1	0	0	4970	876	31	1	1461	1	EFCAB7	1	64027454	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71694	64027454	185223167	646	8358											
PGM1	5236	broad.mit.edu	37	chr1	64120045	64120045	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggttctcgaatcgtcttcCgactgagcggcactgggagt	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64120045C>T	ENST00000371083.4	+	10	1929	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	PGM1_ENST00000483707.1_3'UTR|PGM1_ENST00000540265.1_Nonsense_Mutation_p.R306*|PGM1_ENST00000371084.3_Nonsense_Mutation_p.R503*	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	503					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AATCGTCTTCCGACTGAGCGG	0.532													False	0	False	1:64120045	0	T	64120045	C	T	64120045	4	4	88	1	0	0	0	0	0	1	0	0	11866	644	23	1	1849	1	PGM1	1	64120045	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92591	64120045	185130576	647	8359											
ROR1	4919	broad.mit.edu	37	chr1	64475030	64475030	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacctcatcatggaacatcTcaagtgaactcaacaaaggt	6	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64475030T>G	ENST00000371079.1	+	2	520	c.145T>G	c.(145-147)Tca>Gca	p.S49A	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.S49A	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	49	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATGGAACATCTCAAGTGAACT	0.443													False	0	False	1:64475030	0	G	64475030	T	G	64475030	3	3	88	1	0	0	0	0	1	0	0	0	13605	1551	54	4	151	4	ROR1	1	64475030	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	354985	64475030	184775591	648	8360											
UBE2U	148581	broad.mit.edu	37	chr1	64676474	64676474	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactttttggacaaccctgaGaagtggaatacaaactatac	8	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64676474G>T	ENST00000371076.3	+	4	535	c.291G>T	c.(289-291)gaG>gaT	p.E97D		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	97							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						ACAACCCTGAGAAGTGGAATA	0.308													False	0	False	1:64676474	0	T	64676474	G	T	64676474	3	4	88	1	0	0	0	0	1	0	0	0	16958	933	33	3	305	3	UBE2U	1	64676474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201444	64676474	184574147	649	8361											
CACHD1	57685	broad.mit.edu	37	chr1	65129424	65129424	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcttttcctccccctaTgagcacctcagccagccaga	8	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65129424T>G	ENST00000371073.2	+	14	1998	c.1998T>G	c.(1996-1998)taT>taG	p.Y666*	CACHD1_ENST00000290039.5_Nonsense_Mutation_p.Y615*|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	666					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTCCCCCTATGAGCACCTCA	0.537													False	0	False	1:65129424	0	G	65129424	T	G	65129424	4	3	88	1	0	0	0	0	0	1	0	0	2557	1471	51	4	1899	4	CACHD1	1	65129424	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	452950	65129424	184121197	650	8362											
CACHD1	57685	broad.mit.edu	37	chr1	65137258	65137258	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacttaaagtacacagctgtCttctgggcacactgtggctg	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65137258C>A	ENST00000371073.2	+	17	2399	c.2399C>A	c.(2398-2400)tCt>tAt	p.S800Y	CACHD1_ENST00000290039.5_Missense_Mutation_p.S749Y|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	800	Cache 2.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACACAGCTGTCTTCTGGGCAC	0.413													False	0	False	1:65137258	0	A	65137258	C	A	65137258	3	1	88	1	0	0	0	0	1	0	0	0	2557	913	32	3	2312	3	CACHD1	1	65137258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7834	65137258	184113363	651	8363											
RAVER2	55225	broad.mit.edu	37	chr1	65268680	65268680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgttcttggaacacctcacaGcttgccacatctgatgaatc	7	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65268680G>T	ENST00000294428.3	+	6	1205	c.1127G>T	c.(1126-1128)aGc>aTc	p.S376I	RAVER2_ENST00000430964.2_Missense_Mutation_p.S82I|RAVER2_ENST00000371072.4_Missense_Mutation_p.S376I			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	376						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACACCTCACAGCTTGCCACAT	0.308													False	0	False	1:65268680	0	T	65268680	G	T	65268680	3	4	88	1	0	0	0	0	1	0	0	0	13174	971	34	3	1149	3	RAVER2	1	65268680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131422	65268680	183981941	652	8364											
JAK1	3716	broad.mit.edu	37	chr1	65332855	65332855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggttcctctgtctgatGgacttattcaatgtttctgg	10	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65332855G>A	ENST00000342505.4	-	7	932	c.684C>T	c.(682-684)tcC>tcT	p.S228S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	228	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCTGTCTGATGGACTTATTCA	0.363			Mis		ALL								False	0	False	1:65332855	0	A	65332855	G	A	65332855	2	1	88	1	0	0	0	0	0	0	0	1	7987	1335	47	2		2	JAK1	1	65332855	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64175	65332855	183917766	653	8365											
DNAJC6	9829	broad.mit.edu	37	chr1	65855014	65855014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactggatgtagaactacaGccccatgacaaagtaataga	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65855014G>A	ENST00000395325.3	+	10	1255	c.1098G>A	c.(1096-1098)caG>caA	p.Q366Q	DNAJC6_ENST00000371069.4_Silent_p.Q423Q|DNAJC6_ENST00000263441.7_Silent_p.Q353Q	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	366	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TAGAACTACAGCCCCATGACA	0.403													False	0	True	1:65855014	0	A	65855014	G	A	65855014	2	1	88	1	0	0	0	0	0	0	0	1	4683	962	34	2		2	DNAJC6	1	65855014	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	522159	65855014	183395607	654	8366											
DNAJC6	9829	broad.mit.edu	37	chr1	65855062	65855062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatgggaacattactgCacaaaagatgtcaatcccag	7	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65855062C>T	ENST00000395325.3	+	10	1303	c.1146C>T	c.(1144-1146)tgC>tgT	p.C382C	DNAJC6_ENST00000371069.4_Silent_p.C439C|DNAJC6_ENST00000263441.7_Silent_p.C369C	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	382					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AACATTACTGCACAAAAGATG	0.428													False	0	False	1:65855062	0	T	65855062	C	T	65855062	2	4	88	1	0	0	0	0	0	0	0	1	4683	718	25	2		2	DNAJC6	1	65855062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48	65855062	183395559	655	8367											
LEPR	3953	broad.mit.edu	37	chr1	66058449	66058449	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcttgtgcctgtgccaAcagccaaactcaacgacact	7	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66058449A>C	ENST00000349533.6	+	6	789	c.604A>C	c.(604-606)Aca>Cca	p.T202P	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.T202P|LEPR_ENST00000371060.3_Missense_Mutation_p.T202P|LEPR_ENST00000371058.1_Missense_Mutation_p.T202P|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.T202P	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	202					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCCTGTGCCAACAGCCAAACT	0.428													False	0	False	1:66058449	0	C	66058449	A	C	66058449	3	2	88	1	0	0	0	0	1	0	0	0	8779	43	2	4	618	4	LEPR	1	66058449	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203387	66058449	183192172	656	8368											
LEPR	3953	broad.mit.edu	37	chr1	66081902	66081902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccttttcatggcctatgaGcaaaggtaagaagaggtaca	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66081902G>T	ENST00000349533.6	+	15	2392	c.2207G>T	c.(2206-2208)aGc>aTc	p.S736I	LEPR_ENST00000344610.8_Missense_Mutation_p.S736I|LEPR_ENST00000371060.3_Missense_Mutation_p.S736I|LEPR_ENST00000371058.1_Missense_Mutation_p.S736I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.S736I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	736	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGCCTATGAGCAAAGGTAAG	0.373													False	0	False	1:66081902	0	T	66081902	G	T	66081902	3	4	88	1	0	0	0	0	1	0	0	0	8779	971	34	3	2257	3	LEPR	1	66081902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23453	66081902	183168719	657	8369											
LEPR	3953	broad.mit.edu	37	chr1	66102160	66102160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccctttgttaaatacgCcacgctgatcagcaactcta	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:66102160C>T	ENST00000349533.6	+	20	3145	c.2960C>T	c.(2959-2961)gCc>gTc	p.A987V	LEPR_ENST00000406510.3_Missense_Mutation_p.A54V	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	987					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTTAAATACGCCACGCTGATC	0.433													False	0	False	1:66102160	0	T	66102160	C	T	66102160	3	4	88	1	0	0	0	0	1	0	0	0	8779	739	26	2	3260	2	LEPR	1	66102160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20258	66102160	183148461	658	8370											
SGIP1	84251	broad.mit.edu	37	chr1	67155901	67155901	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttagccctcccattcattCttccagccctcctccaatag	3	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67155901C>A	ENST00000371037.4	+	17	1549	c.1472C>A	c.(1471-1473)tCt>tAt	p.S491Y	SGIP1_ENST00000237247.6_Missense_Mutation_p.S522Y|SGIP1_ENST00000371035.3_Missense_Mutation_p.S281Y|SGIP1_ENST00000371036.3_Missense_Mutation_p.S291Y|SGIP1_ENST00000371039.1_Missense_Mutation_p.S292Y	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	491	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCATTCATTCTTCCAGCCCT	0.453													False	0	True	1:67155901	0	A	67155901	C	A	67155901	3	1	88	1	0	0	0	0	1	0	0	0	14287	913	32	3	1538	3	SGIP1	1	67155901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1053741	67155901	182094720	659	8371											
TCTEX1D1	200132	broad.mit.edu	37	chr1	67236111	67236111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggaagaacccagtcagcGtgatgatatctctcgcctta	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67236111G>A	ENST00000282670.2	+	3	289	c.161G>A	c.(160-162)cGt>cAt	p.R54H	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	54										large_intestine(2)|lung(10)|skin(1)	13						CCCAGTCAGCGTGATGATATC	0.333													False	0	False	1:67236111	0	A	67236111	G	A	67236111	3	1	88	1	0	0	0	0	1	0	0	0	15801	1145	40	1	167	1	TCTEX1D1	1	67236111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80210	67236111	182014510	660	8372											
INSL5	10022	broad.mit.edu	37	chr1	67266800	67266800	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacagatatagatgactgtCcgtatgtattctagcccaca	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67266800C>T	ENST00000304526.2	-	1	139	c.105G>A	c.(103-105)cgG>cgA	p.R35R		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	35						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						AGATGACTGTCCGTATGTATT	0.473													False	0	False	1:67266800	0	T	67266800	C	T	67266800	2	4	88	1	0	0	0	0	0	0	0	1	7819	842	30	2		2	INSL5	1	67266800	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30689	67266800	181983821	661	8373											
WDR78	79819	broad.mit.edu	37	chr1	67299780	67299780	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgttgttcctcgatcttgTtctatccactgtagttgcca	7	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67299780T>C	ENST00000371026.3	-	12	1840	c.1785A>G	c.(1783-1785)gaA>gaG	p.E595E	WDR78_ENST00000431318.1_Silent_p.E341E	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	595										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTCGATCTTGTTCTATCCACT	0.333													False	0	False	1:67299780	0	C	67299780	T	C	67299780	2	2	88	1	0	0	0	0	0	0	0	1	17412	1722	60	4		4	WDR78	1	67299780	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32980	67299780	181950841	662	8374											
WDR78	79819	broad.mit.edu	37	chr1	67301382	67301382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccattgtgatagccaaCggctaaaaggttaggtgctc	12	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67301382C>T	ENST00000371026.3	-	11	1715	c.1660G>A	c.(1660-1662)Gtt>Att	p.V554I	WDR78_ENST00000431318.1_Missense_Mutation_p.V300I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	554										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TGATAGCCAACGGCTAAAAGG	0.363													False	0	False	1:67301382	0	T	67301382	C	T	67301382	3	4	88	1	0	0	0	0	1	0	0	0	17412	536	19	1	914	1	WDR78	1	67301382	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1602	67301382	181949239	663	8375											
WDR78	79819	broad.mit.edu	37	chr1	67306218	67306218	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaagtcacaggaaaaagaCcaaagtcgttccaagttggc	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67306218C>T	ENST00000371026.3	-	9	1483	c.1428G>A	c.(1426-1428)tgG>tgA	p.W476*	WDR78_ENST00000371023.3_Nonsense_Mutation_p.W476*|WDR78_ENST00000431318.1_Nonsense_Mutation_p.W222*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	476										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGAAAAAGACCAAAGTCGTT	0.398													False	0	False	1:67306218	0	T	67306218	C	T	67306218	4	4	88	1	0	0	0	0	0	1	0	0	17412	508	18	2	1211	2	WDR78	1	67306218	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4836	67306218	181944403	664	8376											
C1orf141	400757	broad.mit.edu	37	chr1	67558913	67558913	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggtaacccacaaattgTtttgttaggctagaaaaatt	7	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67558913T>G	ENST00000371007.2	-	8	1087	c.978A>C	c.(976-978)aaA>aaC	p.K326N	C1orf141_ENST00000371006.1_Missense_Mutation_p.K326N|C1orf141_ENST00000544837.1_Missense_Mutation_p.K326N	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	326										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CCACAAATTGTTTTGTTAGGC	0.328													False	0	True	1:67558913	0	G	67558913	T	G	67558913	3	3	88	1	0	0	0	0	1	0	0	0	2016	1722	60	4	228	4	C1orf141	1	67558913	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	252695	67558913	181691708	665	8377											
C1orf141	400757	broad.mit.edu	37	chr1	67559028	67559028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctacagttgtgtggcccGctttaaaagacatagggatc	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67559028G>A	ENST00000371007.2	-	8	972	c.863C>T	c.(862-864)gCg>gTg	p.A288V	C1orf141_ENST00000371006.1_Missense_Mutation_p.A288V|C1orf141_ENST00000544837.1_Missense_Mutation_p.A288V	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	288										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TGTGTGGCCCGCTTTAAAAGA	0.323													False	0	True	1:67559028	0	A	67559028	G	A	67559028	3	1	88	1	0	0	0	0	1	0	0	0	2016	1087	38	1	343	1	C1orf141	1	67559028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115	67559028	181691593	666	8378											
IL23R	149233	broad.mit.edu	37	chr1	67705865	67705865	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcctttcattagacaAcagaggagacattggacttt	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67705865A>G	ENST00000347310.5	+	9	1220	c.1049A>G	c.(1048-1050)aAc>aGc	p.N350S	IL23R_ENST00000371002.1_Intron|IL23R_ENST00000395227.1_Missense_Mutation_p.N95S|IL23R_ENST00000473881.1_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	350					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TCATTAGACAACAGAGGAGAC	0.343													False	0	False	1:67705865	0	G	67705865	A	G	67705865	3	3	88	1	0	0	0	0	1	0	0	0	7726	43	2	4	1079	4	IL23R	1	67705865	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	146837	67705865	181544756	667	8379											
DEPDC1	55635	broad.mit.edu	37	chr1	68954087	68954087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagtataactactccacGtttacttgtattggccatgt	7	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:68954087G>A	ENST00000456315.2	-	5	805	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R231C	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	231					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ACTACTCCACGTTTACTTGTA	0.338													False	0	True	1:68954087	0	A	68954087	G	A	68954087	3	1	88	1	0	0	0	0	1	0	0	0	4469	1145	40	1	1776	1	DEPDC1	1	68954087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1248222	68954087	180296534	668	8380											
LRRC7	57554	broad.mit.edu	37	chr1	70226019	70226019	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaaaggaggtctttaacttCgaacgaacattagaggagct	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70226019C>T	ENST00000310961.5	+	4	565	c.147C>T	c.(145-147)ttC>ttT	p.F49F	LRRC7_ENST00000035383.5_Silent_p.F44F|LRRC7_ENST00000370958.1_Silent_p.F82F|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	44						centrosome|focal adhesion|nucleolus	protein binding	p.F44F(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTTTAACTTCGAACGAACAT	0.393													False	0	True	1:70226019	0	T	70226019	C	T	70226019	2	4	88	1	0	0	0	0	0	0	0	1	9082	883	31	1		1	LRRC7	1	70226019	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1271932	70226019	179024602	669	8381											
LRRC7	57554	broad.mit.edu	37	chr1	70300475	70300475	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttttagactacctgatggCttcacacagctcctaaacct	5	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70300475C>A	ENST00000310961.5	+	7	832	c.414C>A	c.(412-414)ggC>ggA	p.G138G	LRRC7_ENST00000035383.5_Silent_p.G133G|LRRC7_ENST00000370958.1_Silent_p.G171G|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	133						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TACCTGATGGCTTCACACAGC	0.348													False	0	False	1:70300475	0	A	70300475	C	A	70300475	2	1	88	1	0	0	0	0	0	0	0	1	9082	784	28	3		3	LRRC7	1	70300475	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74456	70300475	178950146	670	8382											
LRRC7	57554	broad.mit.edu	37	chr1	70486761	70486761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaacgcatgactgttgcCtttgaatttgaagacaaaaa	7	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70486761C>T	ENST00000310961.5	+	17	1813	c.1395C>T	c.(1393-1395)gcC>gcT	p.A465A	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Silent_p.A460A|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	460						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGACTGTTGCCTTTGAATTTG	0.378													False	0	True	1:70486761	0	T	70486761	C	T	70486761	2	4	88	1	0	0	0	0	0	0	0	1	9082	668	24	2		2	LRRC7	1	70486761	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186286	70486761	178763860	671	8383											
LRRC7	57554	broad.mit.edu	37	chr1	70503819	70503819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccatctttcccacagcCtcttgattcaaagccattac	4	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70503819C>T	ENST00000310961.5	+	22	2631	c.2213C>T	c.(2212-2214)cCt>cTt	p.P738L	LRRC7_ENST00000035383.5_Missense_Mutation_p.P733L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P17L			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	733						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCCCACAGCCTCTTGATTCA	0.498													False	0	False	1:70503819	0	T	70503819	C	T	70503819	3	4	88	1	0	0	0	0	1	0	0	0	9082	681	24	2	2272	2	LRRC7	1	70503819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17058	70503819	178746802	672	8384											
LRRC7	57554	broad.mit.edu	37	chr1	70504112	70504112	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagtctacacacagacacAcaccagaaacagaagtgcct	7	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70504112A>G	ENST00000310961.5	+	22	2924	c.2506A>G	c.(2506-2508)Aca>Gca	p.T836A	LRRC7_ENST00000035383.5_Missense_Mutation_p.T831A|LRRC7_ENST00000415775.2_Missense_Mutation_p.T115A			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	831						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACACAGACACACACCAGAAAC	0.498													False	0	True	1:70504112	0	G	70504112	A	G	70504112	3	3	88	1	0	0	0	0	1	0	0	0	9082	159	6	4	2565	4	LRRC7	1	70504112	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	293	70504112	178746509	673	8385											
LRRC7	57554	broad.mit.edu	37	chr1	70541910	70541910	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcttcacaggccaccCggggacctcagcctggacgg	11	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70541910C>A	ENST00000310961.5	+	24	4559	c.4141C>A	c.(4141-4143)Cgg>Agg	p.R1381R	LRRC7_ENST00000035383.5_Silent_p.R1423R|LRRC7_ENST00000415775.2_Silent_p.R707R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1423						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGCCACCCGGGGACCTCA	0.473													False	0	True	1:70541910	0	A	70541910	C	A	70541910	2	1	88	1	0	0	0	0	0	0	0	1	9082	643	23	3		3	LRRC7	1	70541910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37798	70541910	178708711	674	8386											
ANKRD13C	81573	broad.mit.edu	37	chr1	70740430	70740430	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccctaagggaaattcctggCtcatggctatcgtagcttta	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70740430C>A	ENST00000370944.4	-	11	1680	c.1367G>T	c.(1366-1368)aGc>aTc	p.S456I	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S421I	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	456					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AAATTCCTGGCTCATGGCTAT	0.358													False	0	False	1:70740430	0	A	70740430	C	A	70740430	3	1	88	1	0	0	0	0	1	0	0	0	643	797	28	3	270	3	ANKRD13C	1	70740430	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198520	70740430	178510191	675	8387											
ANKRD13C	81573	broad.mit.edu	37	chr1	70742526	70742526	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagagactgtcttcgaatcGgctgccaaaaaaaaaaaaga	8	7	1	2	rs141273386		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70742526G>A	ENST00000370944.4	-	10	1530	c.1217C>T	c.(1216-1218)cCg>cTg	p.P406L	ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Splice_Site_p.P371L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	406					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TCTTCGAATCGGCTGCCAAAA	0.313													False	0	False	1:70742526	0	A	70742526	G	A	70742526	5	1	88	1	0	0	0	0	0	0	1	0	643	1130	39	1	424	1	ANKRD13C	1	70742526	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2096	70742526	178508095	676	8388											
HHLA3	11147	broad.mit.edu	37	chr1	70832204	70832204	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaagaaagaatttgaggCgaatccatagagtaaggtaa	11	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70832204C>T	ENST00000370940.5	+	2	354	c.238C>T	c.(238-240)Cga>Tga	p.R80*	HHLA3_ENST00000361764.4_3'UTR|HHLA3_ENST00000432224.1_Nonsense_Mutation_p.R113*|HHLA3_ENST00000359875.5_Missense_Mutation_p.A112V|HHLA3_ENST00000531950.1_Missense_Mutation_p.A112V	NM_001031693.2|NM_001036646.1	NP_001026863.1|NP_001031723.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	0							protein binding			large_intestine(3)|lung(1)	4						gaatttgaggcgaatccatag	0.413													False	0	False	1:70832204	0	T	70832204	C	T	70832204	4	4	88	1	0	0	0	0	0	1	0	0	7143	769	27	1	341	1	HHLA3	1	70832204	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89678	70832204	178418417	677	8389											
PTGER3	5733	broad.mit.edu	37	chr1	71437417	71437417	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caactccgttctttcattatCtgttagaatagagagagaaa	7	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71437417C>T	ENST00000306666.5	-	4	1380		c.e4-1		PTGER3_ENST00000356595.4_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000414819.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Intron	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CTTTCATTATCTGTTAGAATA	0.303													False	0	False	1:71437417	0	T	71437417	C	T	71437417	5	4	88	1	0	0	0	0	0	0	1	0	12821	927	32	2	220	2	PTGER3	1	71437417	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605213	71437417	177813204	678	8390											
PTGER3	5733	broad.mit.edu	37	chr1	71512538	71512538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaaaaggtgactgtcagCgccaagagccccaggaaggc	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71512538C>T	ENST00000370924.4	-	1	953	c.723G>A	c.(721-723)gcG>gcA	p.A241A	PTGER3_ENST00000356595.4_Silent_p.A241A|PTGER3_ENST00000460330.1_Silent_p.A241A|PTGER3_ENST00000354608.5_Silent_p.A241A|PTGER3_ENST00000351052.5_Silent_p.A241A|PTGER3_ENST00000414819.1_Silent_p.A241A|PTGER3_ENST00000370932.2_Silent_p.A241A|PTGER3_ENST00000370931.3_Silent_p.A241A|PTGER3_ENST00000306666.5_Silent_p.A241A	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	241					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	TGACTGTCAGCGCCAAGAGCC	0.632													False	0	False	1:71512538	0	T	71512538	C	T	71512538	2	4	88	1	0	0	0	0	0	0	0	1	12821	755	27	1		1	PTGER3	1	71512538	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75121	71512538	177738083	679	8391											
ZRANB2	9406	broad.mit.edu	37	chr1	71536592	71536592	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagactttgagcgacttcGtctattagatttctttttat	7	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71536592G>A	ENST00000370920.3	-	7	902	c.601C>T	c.(601-603)Cga>Tga	p.R201*	ZRANB2_ENST00000254821.6_Nonsense_Mutation_p.R201*	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	201	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						GAGCGACTTCGTCTATTAGAT	0.408													False	0	False	1:71536592	0	A	71536592	G	A	71536592	4	1	88	1	0	0	0	0	0	1	0	0	18305	1153	40	1	445	1	ZRANB2	1	71536592	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24054	71536592	177714029	680	8392											
NEGR1	257194	broad.mit.edu	37	chr1	72241933	72241933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaagagtgacgttggttcCttcattgacggtcatatcat	10	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:72241933C>T	ENST00000357731.5	-	3	696	c.457G>A	c.(457-459)Gga>Aga	p.G153R	NEGR1_ENST00000306821.3_Missense_Mutation_p.G25R|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.G151R	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1		Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ACGTTGGTTCCTTCATTGACG	0.388													False	0	False	1:72241933	0	T	72241933	C	T	72241933	3	4	88	1	0	0	0	0	1	0	0	0	10385	690	24	2	627	2	NEGR1	1	72241933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	705341	72241933	177008688	681	8393											
LRRIQ3	127255	broad.mit.edu	37	chr1	74492596	74492596	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcacaggctttttcaaaGgcaatcatatccataacaaa	4	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74492596G>T	ENST00000354431.4	-	8	1967	c.1776C>A	c.(1774-1776)gcC>gcA	p.A592A	LRRIQ3_ENST00000395089.1_Silent_p.A592A	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	592										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTTTTCAAAGGCAATCATAT	0.284													False	0	True	1:74492596	0	T	74492596	G	T	74492596	2	4	88	1	0	0	0	0	0	0	0	1	9092	987	35	3		3	LRRIQ3	1	74492596	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2250663	74492596	174758025	682	8394											
LRRIQ3	127255	broad.mit.edu	37	chr1	74648414	74648414	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actggacaatcaaacatagtGagggcaatgagggttggaca	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74648414G>A	ENST00000354431.4	-	3	572	c.381C>T	c.(379-381)ctC>ctT	p.L127L	LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000370911.3_Silent_p.L127L|LRRIQ3_ENST00000395089.1_Silent_p.L127L	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	127										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAAACATAGTGAGGGCAATGA	0.373													False	0	False	1:74648414	0	A	74648414	G	A	74648414	2	1	88	1	0	0	0	0	0	0	0	1	9092	1277	45	2		2	LRRIQ3	1	74648414	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155818	74648414	174602207	683	8395											
LRRIQ3	127255	broad.mit.edu	37	chr1	74649258	74649258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatagactttaaatgaagGccattgaacttcacaaaaac	5	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74649258G>A	ENST00000354431.4	-	2	302	c.111C>T	c.(109-111)ggC>ggT	p.G37G	LRRIQ3_ENST00000370909.2_Silent_p.G37G|LRRIQ3_ENST00000370911.3_Silent_p.G37G|LRRIQ3_ENST00000395089.1_Silent_p.G37G	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	37										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ttaaatgaaggccattgaact	0.333													False	0	False	1:74649258	0	A	74649258	G	A	74649258	2	1	88	1	0	0	0	0	0	0	0	1	9092	1190	42	2		2	LRRIQ3	1	74649258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	844	74649258	174601363	684	8396											
C1orf173	127254	broad.mit.edu	37	chr1	75036989	75036989	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggaatttttcagctgctcCtgtctcctgcctcccatcgc	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75036989C>A	ENST00000326665.5	-	14	4623	c.4405G>T	c.(4405-4407)Gga>Tga	p.G1469*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1469	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCAGCTGCTCCTGTCTCCTGC	0.582													False	0	False	1:75036989	0	A	75036989	C	A	75036989	4	1	88	1	0	0	0	0	0	1	0	0	2029	690	24	3	191	3	C1orf173	1	75036989	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	387731	75036989	174213632	685	8397											
C1orf173	127254	broad.mit.edu	37	chr1	75037224	75037224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttttcctactaactcatcCtgttggtgccaggtttcttc	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75037224C>A	ENST00000326665.5	-	14	4388	c.4170G>T	c.(4168-4170)caG>caT	p.Q1390H	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1390	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTAACTCATCCTGTTGGTGCC	0.517													False	0	False	1:75037224	0	A	75037224	C	A	75037224	3	1	88	1	0	0	0	0	1	0	0	0	2029	680	24	3	426	3	C1orf173	1	75037224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	235	75037224	174213397	686	8398											
C1orf173	127254	broad.mit.edu	37	chr1	75038471	75038471	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctggttcctctcccccaaGaattgcctcttcagaaccgt	8	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75038471G>A	ENST00000326665.5	-	14	3141	c.2923C>T	c.(2923-2925)Ctt>Ttt	p.L975F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	975	Glu-rich.							p.L975I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTCCCCCAAGAATTGCCTCT	0.522													False	0	False	1:75038471	0	A	75038471	G	A	75038471	3	1	88	1	0	0	0	0	1	0	0	0	2029	942	33	2	1673	2	C1orf173	1	75038471	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1247	75038471	174212150	687	8399											
C1orf173	127254	broad.mit.edu	37	chr1	75078406	75078406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtattcacaacaggagCttaacctgttcacctgcatc	7	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75078406C>A	ENST00000326665.5	-	9	1306	c.1088G>T	c.(1087-1089)aGc>aTc	p.S363I	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S166I	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	363										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACAACAGGAGCTTAACCTGTT	0.443													False	0	False	1:75078406	0	A	75078406	C	A	75078406	3	1	88	1	0	0	0	0	1	0	0	0	2029	797	28	3	3528	3	C1orf173	1	75078406	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39935	75078406	174172215	688	8400											
TYW3	127253	broad.mit.edu	37	chr1	75204373	75204373	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taccactgttcatttatttaGattgtagctctgaagaaagc	7	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75204373G>A	ENST00000370867.3	+	3	344		c.e3-1		TYW3_ENST00000479111.1_Splice_Site|TYW3_ENST00000421739.2_Intron|TYW3_ENST00000457880.2_Intron	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)						tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						CATTTATTTAGATTGTAGCTC	0.388													False	0	True	1:75204373	0	A	75204373	G	A	75204373	5	1	88	1	0	0	0	0	0	0	1	0	16904	956	33	2	265	2	TYW3	1	75204373	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125967	75204373	174046248	689	8401											
LHX8	431707	broad.mit.edu	37	chr1	75622644	75622644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaatcactcatcctccaccCcagtcacagcagtcccaccc	3	21	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75622644C>T	ENST00000294638.5	+	9	1541	c.877C>T	c.(877-879)Cca>Tca	p.P293S	LHX8_ENST00000356261.3_Missense_Mutation_p.P283S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ATCCTCCACCCCAGTCACAGC	0.512													False	0	True	1:75622644	0	T	75622644	C	T	75622644	3	4	88	1	0	0	0	0	1	0	0	0	8828	623	22	2	907	2	LHX8	1	75622644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418271	75622644	173627977	690	8402											
SLC44A5	204962	broad.mit.edu	37	chr1	75683558	75683558	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaatcttacgtttaagAcggtggtccaagtattctag	9	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75683558A>G	ENST00000370855.5	-	18	1730	c.1617T>C	c.(1615-1617)cgT>cgC	p.R539R	SLC44A5_ENST00000535611.1_Silent_p.R409R|SLC44A5_ENST00000370859.3_Silent_p.R539R	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	539						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TACGTTTAAGACGGTGGTCCA	0.358													False	0	False	1:75683558	0	G	75683558	A	G	75683558	2	3	88	1	0	0	0	0	0	0	0	1	14719	262	10	4		4	SLC44A5	1	75683558	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60914	75683558	173567063	691	8403											
SLC44A5	204962	broad.mit.edu	37	chr1	75683626	75683626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataattaaagatccaaatgCtagggatcctgtgtgatatc	8	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75683626C>T	ENST00000370855.5	-	18	1662	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	SLC44A5_ENST00000535611.1_Missense_Mutation_p.A387T|SLC44A5_ENST00000370859.3_Missense_Mutation_p.A517T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	517						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A517S(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GATCCAAATGCTAGGGATCCT	0.289													False	0	False	1:75683626	0	T	75683626	C	T	75683626	3	4	88	1	0	0	0	0	1	0	0	0	14719	797	28	2	749	2	SLC44A5	1	75683626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68	75683626	173566995	692	8404											
SLC44A5	204962	broad.mit.edu	37	chr1	75684943	75684943	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagtttcttgtacttaccTctgggtcacaggtttgattt	9	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75684943T>C	ENST00000370855.5	-	16	1378	c.1265A>G	c.(1264-1266)gAg>gGg	p.E422G	SLC44A5_ENST00000535611.1_Splice_Site_p.E292G|SLC44A5_ENST00000370859.3_Splice_Site_p.E422G	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	422						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGTACTTACCTCTGGGTCACA	0.413													False	0	False	1:75684943	0	C	75684943	T	C	75684943	5	2	88	1	0	0	0	0	0	0	1	0	14719	1565	54	4	1041	4	SLC44A5	1	75684943	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1317	75684943	173565678	693	8405											
SLC44A5	204962	broad.mit.edu	37	chr1	75688057	75688057	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggccttacttgcttccttcCttcagcaggataatggcgac	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75688057C>A	ENST00000370855.5	-	14	1187	c.1074G>T	c.(1072-1074)aaG>aaT	p.K358N	SLC44A5_ENST00000535611.1_Missense_Mutation_p.K228N|SLC44A5_ENST00000370859.3_Missense_Mutation_p.K358N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	358						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGCTTCCTTCCTTCAGCAGGA	0.413													False	0	True	1:75688057	0	A	75688057	C	A	75688057	3	1	88	1	0	0	0	0	1	0	0	0	14719	680	24	3	1240	3	SLC44A5	1	75688057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3114	75688057	173562564	694	8406											
SLC44A5	204962	broad.mit.edu	37	chr1	75704231	75704231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagttctacaacacttcttGtccctccatttccatcttga	4	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75704231G>A	ENST00000370855.5	-	10	736	c.623C>T	c.(622-624)aCa>aTa	p.T208I	SLC44A5_ENST00000535611.1_Missense_Mutation_p.T78I|SLC44A5_ENST00000370859.3_Missense_Mutation_p.T208I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	208						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AACACTTCTTGTCCCTCCATT	0.378													False	0	False	1:75704231	0	A	75704231	G	A	75704231	3	1	88	1	0	0	0	0	1	0	0	0	14719	1377	48	2	1707	2	SLC44A5	1	75704231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16174	75704231	173546390	695	8407											
MSH4	4438	broad.mit.edu	37	chr1	76262729	76262729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccggcggtttccccgtcgtCgggagaaacccgctcacctc	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76262729C>T	ENST00000263187.3	+	1	163	c.59C>T	c.(58-60)tCg>tTg	p.S20L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	20				SS -> VV (in Ref. 1; AAB72039).	chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCCCGTCGTCGGGAGAAACC	0.602								Mismatch excision repair (MMR)					False	0	True	1:76262729	0	T	76262729	C	T	76262729	3	4	88	1	0	0	0	0	1	0	0	0	9939	893	31	1	61	1	MSH4	1	76262729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	558498	76262729	172987892	696	8408											
MSH4	4438	broad.mit.edu	37	chr1	76343977	76343977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacatagcaagaagaacatAcacagagattgtagatgaca	9	6	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76343977A>G	ENST00000263187.3	+	11	1618	c.1514A>G	c.(1513-1515)tAc>tGc	p.Y505C		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	505					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGAAGAACATACACAGAGATT	0.363								Mismatch excision repair (MMR)					False	0	False	1:76343977	0	G	76343977	A	G	76343977	3	3	88	1	0	0	0	0	1	0	0	0	9939	391	14	4	1556	4	MSH4	1	76343977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	81248	76343977	172906644	697	8409											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76779638	76779638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcctacacatacaggcGgccccttcgaactcactatg	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76779638G>A	ENST00000328299.3	+	2	315	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	56					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATACAGGCGGCCCCTTCGA	0.443													False	0	False	1:76779638	0	A	76779638	G	A	76779638	3	1	88	1	0	0	0	0	1	0	0	0	15307	1116	39	1	173	1	ST6GALNAC3	1	76779638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	435661	76779638	172470983	698	8410											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77528857	77528857	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaaccagaatcacttgCtataaatcatcctgagaata	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:77528857C>A	ENST00000477717.1	+	5	1212	c.977C>A	c.(976-978)gCt>gAt	p.A326D		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	326					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GAATCACTTGCTATAAATCAT	0.423													False	0	False	1:77528857	0	A	77528857	C	A	77528857	3	1	88	1	0	0	0	0	1	0	0	0	15309	797	28	3	995	3	ST6GALNAC5	1	77528857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	749219	77528857	171721764	699	8411											
ZZZ3	26009	broad.mit.edu	37	chr1	78031830	78031830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaatcctggcaatgccaccGaacaccctggatgggttcta	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78031830G>A	ENST00000370801.3	-	14	2978	c.2503C>T	c.(2503-2505)Cgg>Tgg	p.R835W	ZZZ3_ENST00000370798.1_Missense_Mutation_p.R341W|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CAATGCCACCGAACACCCTGG	0.383													False	0	False	1:78031830	0	A	78031830	G	A	78031830	3	1	88	1	0	0	0	0	1	0	0	0	18338	1057	37	1	216	1	ZZZ3	1	78031830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	502973	78031830	171218791	700	8412											
ZZZ3	26009	broad.mit.edu	37	chr1	78034018	78034018	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaattaaatagaacttaccTtaaagcccacatgttgcaca	4	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78034018T>G	ENST00000370801.3	-	13	2940	c.2465A>C	c.(2464-2466)aAg>aCg	p.K822T	ZZZ3_ENST00000370798.1_Splice_Site_p.K328T|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AGAACTTACCTTAAAGCCCAC	0.343													False	0	False	1:78034018	0	G	78034018	T	G	78034018	5	3	88	1	0	0	0	0	0	0	1	0	18338	1623	56	4	258	4	ZZZ3	1	78034018	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2188	78034018	171216603	701	8413											
ZZZ3	26009	broad.mit.edu	37	chr1	78046696	78046696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttattacctgttcttcaacaGtccacaactggttaaatgtt	5	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78046696G>T	ENST00000370801.3	-	9	2442	c.1967C>A	c.(1966-1968)aCt>aAt	p.T656N	ZZZ3_ENST00000370798.1_Missense_Mutation_p.T162N|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	656	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAACAGTCCACAACTG	0.373													False	0	False	1:78046696	0	T	78046696	G	T	78046696	3	4	88	1	0	0	0	0	1	0	0	0	18338	1029	36	3	772	3	ZZZ3	1	78046696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12678	78046696	171203925	702	8414											
ZZZ3	26009	broad.mit.edu	37	chr1	78097537	78097537	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taccatatttacacatactcTttgttgtgtttcagtgccac	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78097537T>G	ENST00000370801.3	-	5	1978	c.1503A>C	c.(1501-1503)aaA>aaC	p.K501N	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACACATACTCTTTGTTGTGTT	0.348													False	0	True	1:78097537	0	G	78097537	T	G	78097537	3	3	88	1	0	0	0	0	1	0	0	0	18338	1606	56	4	1252	4	ZZZ3	1	78097537	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50841	78097537	171153084	703	8415											
USP33	23032	broad.mit.edu	37	chr1	78167123	78167123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgatgcaataaaaagtagCtggagagtcctctttttgga	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78167123C>A	ENST00000370793.1	-	23	2879	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S	USP33_ENST00000370794.3_Missense_Mutation_p.A814S|USP33_ENST00000357428.1_Missense_Mutation_p.A845S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	845	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TAAAAAGTAGCTGGAGAGTCC	0.363													False	0	False	1:78167123	0	A	78167123	C	A	78167123	3	1	88	1	0	0	0	0	1	0	0	0	17148	797	28	3	307	3	USP33	1	78167123	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69586	78167123	171083498	704	8416											
USP33	23032	broad.mit.edu	37	chr1	78201795	78201795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatccagatcatcaaataCggcaaccagaggagttttta	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78201795C>T	ENST00000370793.1	-	7	839	c.493G>A	c.(493-495)Gta>Ata	p.V165I	USP33_ENST00000370792.3_Missense_Mutation_p.V165I|USP33_ENST00000370794.3_Missense_Mutation_p.V134I|USP33_ENST00000357428.1_Missense_Mutation_p.V165I	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	165					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TCATCAAATACGGCAACCAGA	0.343													False	0	False	1:78201795	0	T	78201795	C	T	78201795	3	4	88	1	0	0	0	0	1	0	0	0	17148	536	19	1	2423	1	USP33	1	78201795	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34672	78201795	171048826	705	8417											
NEXN	91624	broad.mit.edu	37	chr1	78383276	78383276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttcttcatctaaacctgTcccaaaaacctatgtaccaa	3	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78383276T>C	ENST00000334785.7	+	3	237	c.53T>C	c.(52-54)gTc>gCc	p.V18A	NEXN_ENST00000294624.8_Missense_Mutation_p.V18A|NEXN_ENST00000457030.1_Missense_Mutation_p.V18A|NEXN_ENST00000330010.8_Intron	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	18					regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TCTAAACCTGTCCCAAAAACC	0.338													False	0	True	1:78383276	0	C	78383276	T	C	78383276	3	2	88	1	0	0	0	0	1	0	0	0	10423	1667	58	4	59	4	NEXN	1	78383276	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181481	78383276	170867345	706	8418											
NEXN	91624	broad.mit.edu	37	chr1	78392549	78392549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtttagaagaagagaagcGtgcttttgaagaagcaaggc	13	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78392549G>A	ENST00000330010.8	+	7	941	c.644G>A	c.(643-645)cGt>cAt	p.R215H	NEXN_ENST00000334785.7_Missense_Mutation_p.R279H|NEXN_ENST00000457030.1_Missense_Mutation_p.R265H	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	279	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGAGAAGCGTGCTTTTGAA	0.348													False	0	False	1:78392549	0	A	78392549	G	A	78392549	3	1	88	1	0	0	0	0	1	0	0	0	10423	1145	40	1	862	1	NEXN	1	78392549	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9273	78392549	170858072	707	8419											
GIPC2	54810	broad.mit.edu	37	chr1	78546358	78546358	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acattttatttttctttgcaGatcttatattgcactttaaa	3	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78546358G>A	ENST00000370759.3	+	2	433		c.e2-1		GIPC2_ENST00000476882.1_Splice_Site	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2							cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						TTTCTTTGCAGATCTTATATT	0.318													False	0	False	1:78546358	0	A	78546358	G	A	78546358	5	1	88	1	0	0	0	0	0	0	1	0	6438	956	33	2	246	2	GIPC2	1	78546358	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153809	78546358	170704263	708	8420											
GIPC2	54810	broad.mit.edu	37	chr1	78585184	78585184	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaccgtggaagaaatgGtatgttatgttcatttactt	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78585184G>A	ENST00000370759.3	+	4	907		c.e4+1			NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2							cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GGAAGAAATGGTATGTTATGT	0.398													False	0	True	1:78585184	0	A	78585184	G	A	78585184	5	1	88	1	0	0	0	0	0	0	1	0	6438	1275	44	2	729	2	GIPC2	1	78585184	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38826	78585184	170665437	709	8421											
PTGFR	5737	broad.mit.edu	37	chr1	79002130	79002130	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaataaatggaaatcattctCtggaaacctgtgaaacaaca	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79002130C>A	ENST00000370757.3	+	3	1075	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.L280M	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	280					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AAATCATTCTCTGGAAACCTG	0.358													False	0	False	1:79002130	0	A	79002130	C	A	79002130	3	1	88	1	0	0	0	0	1	0	0	0	12826	912	32	3	919	3	PTGFR	1	79002130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	416946	79002130	170248491	710	8422											
IFI44L	10964	broad.mit.edu	37	chr1	79094664	79094664	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gataacctagacgacataaaGaggataattaaagccagaga	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79094664G>T	ENST00000370751.5	+	3	686	c.507G>T	c.(505-507)aaG>aaT	p.K169N	IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like							cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ACGACATAAAGAGGATAATTA	0.299													False	0	True	1:79094664	0	T	79094664	G	T	79094664	3	4	88	1	0	0	0	0	1	0	0	0	7568	933	33	3	513	3	IFI44L	1	79094664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92534	79094664	170155957	711	8423											
IFI44L	10964	broad.mit.edu	37	chr1	79102805	79102805	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattcactgtgtggcttatgTcttagacatcaactctattg	8	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79102805T>A	ENST00000370751.5	+	6	1144	c.965T>A	c.(964-966)gTc>gAc	p.V322D	IFI44L_ENST00000342282.3_Missense_Mutation_p.V64D|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like							cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTGGCTTATGTCTTAGACATC	0.368													False	0	False	1:79102805	0	A	79102805	T	A	79102805	3	1	88	1	0	0	0	0	1	0	0	0	7568	1667	58	5	983	5	IFI44L	1	79102805	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8141	79102805	170147816	712	8424											
ELTD1	64123	broad.mit.edu	37	chr1	79356886	79356886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatttttgaacaatctgtAatattcttcttgaatctaaa	4	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79356886A>G	ENST00000370742.3	-	15	2089	c.2026T>C	c.(2026-2028)Tac>Cac	p.Y676H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	676					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AACAATCTGTAATATTCTTCT	0.264													False	0	False	1:79356886	0	G	79356886	A	G	79356886	3	3	88	1	0	0	0	0	1	0	0	0	5116	362	13	4	50	4	ELTD1	1	79356886	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	254081	79356886	169893735	713	8425											
ELTD1	64123	broad.mit.edu	37	chr1	79403918	79403918	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagatctgtcacagaatttCtatagacttcttgtagcaaa	6	7	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79403918C>T	ENST00000370742.3	-	5	506	c.443G>A	c.(442-444)aGa>aAa	p.R148K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	148					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CACAGAATTTCTATAGACTTC	0.318													False	0	True	1:79403918	0	T	79403918	C	T	79403918	3	4	88	1	0	0	0	0	1	0	0	0	5116	913	32	2	1673	2	ELTD1	1	79403918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47032	79403918	169846703	714	8426											
LPHN2	23266	broad.mit.edu	37	chr1	82409048	82409048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggaggaaagactgatatcGacctagcagttgatgaaaat	13	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82409048G>A	ENST00000370728.1	+	8	1438	c.793G>A	c.(793-795)Gac>Aac	p.D265N	LPHN2_ENST00000335786.5_Missense_Mutation_p.D265N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D265N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D265N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D265N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D265N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D269N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D265N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D265N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D265N			O95490	LPHN2_HUMAN	latrophilin 2	265	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.D265H(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTGATATCGACCTAGCAGT	0.408													False	0	False	1:82409048	0	A	82409048	G	A	82409048	3	1	88	1	0	0	0	0	1	0	0	0	8978	1058	37	1	807	1	LPHN2	1	82409048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3005130	82409048	166841573	715	8427											
LPHN2	23266	broad.mit.edu	37	chr1	82416758	82416758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catggaaccctaagggccccGatcttagcaactgtacctca	8	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82416758G>A	ENST00000370728.1	+	10	2194	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	LPHN2_ENST00000335786.5_Missense_Mutation_p.D517N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D517N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D517N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D517N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D517N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D455N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D517N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D517N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.D517N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D517N			O95490	LPHN2_HUMAN	latrophilin 2	517					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAAGGGCCCCGATCTTAGCAA	0.423													False	0	True	1:82416758	0	A	82416758	G	A	82416758	3	1	88	1	0	0	0	0	1	0	0	0	8978	1058	37	1	1571	1	LPHN2	1	82416758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7710	82416758	166833863	716	8428											
LPHN2	23266	broad.mit.edu	37	chr1	82435043	82435043	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgaatttattttccTaataggcattgataagacaa	6	6	0	3	rs150031756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82435043T>C	ENST00000370728.1	+	17	3338	c.2693T>C	c.(2692-2694)cTa>cCa	p.L898P	LPHN2_ENST00000335786.5_Missense_Mutation_p.L898P|LPHN2_ENST00000370723.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370715.1_Missense_Mutation_p.L885P|LPHN2_ENST00000370717.2_Missense_Mutation_p.L898P|LPHN2_ENST00000394879.1_Missense_Mutation_p.L885P|LPHN2_ENST00000359929.3_Missense_Mutation_p.L885P|LPHN2_ENST00000319517.6_Missense_Mutation_p.L885P|LPHN2_ENST00000370725.1_Missense_Mutation_p.L898P|LPHN2_ENST00000370721.1_Missense_Mutation_p.L823P|LPHN2_ENST00000271029.4_Missense_Mutation_p.L898P|LPHN2_ENST00000370713.1_Missense_Mutation_p.L885P|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.L898P|LPHN2_ENST00000370730.1_Missense_Mutation_p.L898P			O95490	LPHN2_HUMAN	latrophilin 2	898					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.L898P(1)|p.L885P(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTTATTTTCCTAATAGGCATT	0.368													False	0	False	1:82435043	0	C	82435043	T	C	82435043	3	2	88	1	0	0	0	0	1	0	0	0	8978	1522	53	4	2700	4	LPHN2	1	82435043	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18285	82435043	166815578	717	8429											
LPHN2	23266	broad.mit.edu	37	chr1	82450958	82450958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatagagtcgtataagaagaAtgtggaatgatactgtgaga	12	2	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82450958A>G	ENST00000370728.1	+	23	4060	c.3415A>G	c.(3415-3417)Atg>Gtg	p.M1139V	LPHN2_ENST00000335786.5_Missense_Mutation_p.M1139V|LPHN2_ENST00000370723.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000370715.1_Missense_Mutation_p.M1126V|LPHN2_ENST00000370717.2_Missense_Mutation_p.M1154V|LPHN2_ENST00000394879.1_Missense_Mutation_p.M1141V|LPHN2_ENST00000359929.3_Missense_Mutation_p.M1126V|LPHN2_ENST00000319517.6_Missense_Mutation_p.M1126V|LPHN2_ENST00000370725.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000370721.1_Missense_Mutation_p.M1064V|LPHN2_ENST00000271029.4_Missense_Mutation_p.M1154V|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.M1154V|LPHN2_ENST00000370730.1_Missense_Mutation_p.M1139V			O95490	LPHN2_HUMAN	latrophilin 2	1139					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TATAAGAAGAATGTGGAATGA	0.318													False	0	False	1:82450958	0	G	82450958	A	G	82450958	3	3	88	1	0	0	0	0	1	0	0	0	8978	101	4	4	3446	4	LPHN2	1	82450958	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15915	82450958	166799663	718	8430											
LPHN2	23266	broad.mit.edu	37	chr1	82452608	82452608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactggcaattacctactaAcaaaccctcttcttcgaccc	4	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82452608A>G	ENST00000370728.1	+	24	4165	c.3520A>G	c.(3520-3522)Aca>Gca	p.T1174A	LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1189A|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1176A|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1189A|LPHN2_ENST00000370721.1_Missense_Mutation_p.T1099A|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370730.1_Intron			O95490	LPHN2_HUMAN	latrophilin 2	1174					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTACCTACTAACAAACCCTCT	0.373													False	0	False	1:82452608	0	G	82452608	A	G	82452608	3	3	88	1	0	0	0	0	1	0	0	0	8978	58	2	4		4	LPHN2	1	82452608	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1650	82452608	166798013	719	8431											
TTLL7	79739	broad.mit.edu	37	chr1	84372050	84372050	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgattctgcatctgactttcCtggaaaccggatcttcatgt	8	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:84372050C>A	ENST00000260505.8	-	17	2466	c.2089G>T	c.(2089-2091)Gga>Tga	p.G697*	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	697					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCTGACTTTCCTGGAAACCGG	0.363													False	0	False	1:84372050	0	A	84372050	C	A	84372050	4	1	88	1	0	0	0	0	0	1	0	0	16816	690	24	3	594	3	TTLL7	1	84372050	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1919442	84372050	164878571	720	8432											
TTLL7	79739	broad.mit.edu	37	chr1	84373275	84373275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgttgagcagaaaatgggCgggtgtccccactggaaggt	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:84373275C>T	ENST00000260505.8	-	16	2233	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	619					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGAAAATGGGCGGGTGTCCCC	0.512													False	0	True	1:84373275	0	T	84373275	C	T	84373275	3	4	88	1	0	0	0	0	1	0	0	0	16816	768	27	1	831	1	TTLL7	1	84373275	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1225	84373275	164877346	721	8433											
SSX2IP	117178	broad.mit.edu	37	chr1	85124057	85124057	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctccactgttttctgatgCtgtttgtaagctgctctctc	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85124057C>A	ENST00000437941.2	-	8	1293	c.941G>T	c.(940-942)aGc>aTc	p.S314I	SSX2IP_ENST00000605755.1_Missense_Mutation_p.S314I|SSX2IP_ENST00000342203.3_Missense_Mutation_p.S341I|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S341I	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	341					cell adhesion	nucleus|protein complex		p.S341N(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCTGATGCTGTTTGTAAG	0.413													False	0	False	1:85124057	0	A	85124057	C	A	85124057	3	1	88	1	0	0	0	0	1	0	0	0	15286	797	28	3	846	3	SSX2IP	1	85124057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	750782	85124057	164126564	722	8434											
MCOLN2	255231	broad.mit.edu	37	chr1	85412808	85412808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgagctttattgtcaAagataatctggagacacaaa	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85412808A>C	ENST00000370608.3	-	7	822	c.755T>G	c.(754-756)tTt>tGt	p.F252C	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.F224C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	252						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTTATTGTCAAAGATAATCTG	0.318													False	0	True	1:85412808	0	C	85412808	A	C	85412808	3	2	88	1	0	0	0	0	1	0	0	0	9463	14	1	4	977	4	MCOLN2	1	85412808	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	288751	85412808	163837813	723	8435											
MCOLN2	255231	broad.mit.edu	37	chr1	85431291	85431291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtttccacggaatctggcGtctggctcggtatttttcac	10	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85431291G>A	ENST00000370608.3	-	2	245	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R32C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	60						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GGAATCTGGCGTCTGGCTCGG	0.413													False	0	False	1:85431291	0	A	85431291	G	A	85431291	3	1	88	1	0	0	0	0	1	0	0	0	9463	1145	40	1	1574	1	MCOLN2	1	85431291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18483	85431291	163819330	724	8436											
MCOLN3	55283	broad.mit.edu	37	chr1	85487850	85487850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgatgacattgggcagcGctgcctgaagggtcaaaatg	13	9	1	3	rs141743037		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85487850G>A	ENST00000370589.2	-	11	1275	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.A352V	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	408						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATTGGGCAGCGCTGCCTGAAG	0.468													False	0	False	1:85487850	0	A	85487850	G	A	85487850	3	1	88	1	0	0	0	0	1	0	0	0	9464	1087	38	1	450	1	MCOLN3	1	85487850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56559	85487850	163762771	725	8437											
MCOLN3	55283	broad.mit.edu	37	chr1	85491722	85491722	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgacaaattccatttgatcaGaaacagaaacttccttctta	4	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85491722G>A	ENST00000370589.2	-	9	1047	c.995C>T	c.(994-996)tCt>tTt	p.S332F	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_3'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.S276F	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	332						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CATTTGATCAGAAACAGAAAC	0.338													False	0	True	1:85491722	0	A	85491722	G	A	85491722	3	1	88	1	0	0	0	0	1	0	0	0	9464	942	33	2	686	2	MCOLN3	1	85491722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3872	85491722	163758899	726	8438											
WDR63	126820	broad.mit.edu	37	chr1	85570251	85570251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaatcgaagtggaatatgCtgtcaacttgtcacatgttc	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85570251C>T	ENST00000294664.6	+	14	1704	c.1524C>T	c.(1522-1524)tgC>tgT	p.C508C	WDR63_ENST00000370596.1_Silent_p.C469C|WDR63_ENST00000326813.8_Silent_p.C469C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	508										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTGGAATATGCTGTCAACTTG	0.328													False	0	False	1:85570251	0	T	85570251	C	T	85570251	2	4	88	1	0	0	0	0	0	0	0	1	17398	805	28	2		2	WDR63	1	85570251	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78529	85570251	163680370	727	8439											
SYDE2	84144	broad.mit.edu	37	chr1	85647833	85647833	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttctgtatcagaaggggcAccatcagtcctatattttct	7	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85647833A>G	ENST00000341460.5	-	3	2541	c.2492T>C	c.(2491-2493)gTg>gCg	p.V831A		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	831	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CAGAAGGGGCACCATCAGTCC	0.333													False	0	False	1:85647833	0	G	85647833	A	G	85647833	3	3	88	1	0	0	0	0	1	0	0	0	15518	159	6	4	1112	4	SYDE2	1	85647833	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	77582	85647833	163602788	728	8440											
C1orf52	148423	broad.mit.edu	37	chr1	85724406	85724406	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttgaattcctttggaggCtgttaagcaagcacattaag	9	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85724406C>T	ENST00000471115.1	-	2	285		c.e2-1		C1orf52_ENST00000294661.4_Splice_Site|C1orf52_ENST00000344356.5_Splice_Site	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52											endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		CCTTTGGAGGCTGTTAAGCAA	0.498													False	0	False	1:85724406	0	T	85724406	C	T	85724406	5	4	88	1	0	0	0	0	0	0	1	0	2060	811	28	2	280	2	C1orf52	1	85724406	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76573	85724406	163526215	729	8441											
DDAH1	23576	broad.mit.edu	37	chr1	85930637	85930637	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctcctcgcccttggcgcttCtcagcgcgtgctggccgagc	12	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85930637C>A	ENST00000284031.8	-	1	186	c.92G>T	c.(91-93)aGa>aTa	p.R31I	DDAH1_ENST00000483110.1_Intron|DDAH1_ENST00000535924.2_Intron|DDAH1_ENST00000539042.1_Missense_Mutation_p.R31I	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	31					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	CTTGGCGCTTCTCAGCGCGTG	0.751													False	0	False	1:85930637	0	A	85930637	C	A	85930637	3	1	88	1	0	0	0	0	1	0	0	0	4346	913	32	3	789	3	DDAH1	1	85930637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206231	85930637	163319984	730	8442											
CYR61	3491	broad.mit.edu	37	chr1	86047131	86047131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgggctggtccgggacggCtgcggctgctgtaaggtctg	19	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86047131C>T	ENST00000451137.2	+	2	371	c.147C>T	c.(145-147)ggC>ggT	p.G49G	CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	49	IGFBP N-terminal.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TCCGGGACGGCTGCGGCTGCT	0.687											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:86047131	0	T	86047131	C	T	86047131	2	4	88	1	0	0	0	0	0	0	0	1	4224	784	28	2		2	CYR61	1	86047131	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116494	86047131	163203490	731	8443											
CYR61	3491	broad.mit.edu	37	chr1	86047630	86047630	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcagtcagagggcagaccCtgtgaatataactccagaat	10	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86047630C>A	ENST00000451137.2	+	3	521	c.297C>A	c.(295-297)ccC>ccA	p.P99P	CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	99	VWFC.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AGGGCAGACCCTGTGAATATA	0.453											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:86047630	0	A	86047630	C	A	86047630	2	1	88	1	0	0	0	0	0	0	0	1	4224	668	24	3		3	CYR61	1	86047630	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	499	86047630	163202991	732	8444											
ZNHIT6	54680	broad.mit.edu	37	chr1	86167924	86167924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taataccttgcctccgggcaCgatttttcataaagtacatc	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86167924C>T	ENST00000431532.2	-	6	966	c.818G>A	c.(817-819)cGt>cAt	p.R273H	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.R312H	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	312					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CCTCCGGGCACGATTTTTCAT	0.294													False	0	False	1:86167924	0	T	86167924	C	T	86167924	3	4	88	1	0	0	0	0	1	0	0	0	18291	536	19	1	501	1	ZNHIT6	1	86167924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120294	86167924	163082697	733	8445											
COL24A1	255631	broad.mit.edu	37	chr1	86590924	86590924	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaggagagagctaaatttCtctttggtattcatttttgc	8	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86590924C>A	ENST00000370571.2	-	3	1461	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	COL24A1_ENST00000436319.1_Missense_Mutation_p.E365D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	365					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGCTAAATTTCTCTTTGGTAT	0.398													False	0	True	1:86590924	0	A	86590924	C	A	86590924	3	1	88	1	0	0	0	0	1	0	0	0	3706	912	32	3	4281	3	COL24A1	1	86590924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423000	86590924	162659697	734	8446											
COL24A1	255631	broad.mit.edu	37	chr1	86590991	86590991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggctgaaatttgtctgaGtatcttcctcagtgatcatt	8	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86590991G>A	ENST00000370571.2	-	3	1394	c.1028C>T	c.(1027-1029)aCt>aTt	p.T343I	COL24A1_ENST00000436319.1_Missense_Mutation_p.T343I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	343					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTTGTCTGAGTATCTTCCTC	0.413													False	0	False	1:86590991	0	A	86590991	G	A	86590991	3	1	88	1	0	0	0	0	1	0	0	0	3706	1029	36	2	4348	2	COL24A1	1	86590991	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	86590991	162659630	735	8447											
COL24A1	255631	broad.mit.edu	37	chr1	86591325	86591325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatatctgcagtagtctgCagatgcttctgcagaaggaa	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86591325C>T	ENST00000370571.2	-	3	1060	c.694G>A	c.(694-696)Gca>Aca	p.A232T	COL24A1_ENST00000436319.1_Missense_Mutation_p.A232T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	232					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGTAGTCTGCAGATGCTTCT	0.363													False	0	False	1:86591325	0	T	86591325	C	T	86591325	3	4	88	1	0	0	0	0	1	0	0	0	3706	710	25	2	4682	2	COL24A1	1	86591325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334	86591325	162659296	736	8448											
CLCA2	9635	broad.mit.edu	37	chr1	86905863	86905863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatggaaaagcttatggCtctgtgatgatattagtgac	11	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86905863C>T	ENST00000370565.4	+	8	1398	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	412	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAGCTTATGGCTCTGTGATGA	0.408													False	0	False	1:86905863	0	T	86905863	C	T	86905863	2	4	88	1	0	0	0	0	0	0	0	1	3481	784	28	2		2	CLCA2	1	86905863	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	314538	86905863	162344758	737	8449											
CLCA2	9635	broad.mit.edu	37	chr1	86909588	86909588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggcaggccagtggtcctcCtgagattatattatttgatc	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86909588C>A	ENST00000370565.4	+	10	1769	c.1607C>A	c.(1606-1608)cCt>cAt	p.P536H		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	536					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGTGGTCCTCCTGAGATTATA	0.393													False	0	False	1:86909588	0	A	86909588	C	A	86909588	3	1	88	1	0	0	0	0	1	0	0	0	3481	681	24	3	1645	3	CLCA2	1	86909588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3725	86909588	162341033	738	8450											
CLCA1	1179	broad.mit.edu	37	chr1	86934771	86934771	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaggcattgtcgttgcaatCgaccccaatgtgccagaaga	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86934771C>T	ENST00000234701.3	+	2	468	c.117C>T	c.(115-117)atC>atT	p.I39I	CLCA1_ENST00000394711.1_Silent_p.I39I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	39					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TCGTTGCAATCGACCCCAATG	0.373													False	0	False	1:86934771	0	T	86934771	C	T	86934771	2	4	88	1	0	0	0	0	0	0	0	1	3480	874	31	1		1	CLCA1	1	86934771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25183	86934771	162315850	739	8451											
CLCA1	1179	broad.mit.edu	37	chr1	86948009	86948009	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaaaggatgtgagtttgttCtccaatcccgccagacggag	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86948009C>A	ENST00000234701.3	+	6	1030	c.679C>A	c.(679-681)Ctc>Atc	p.L227I	CLCA1_ENST00000394711.1_Missense_Mutation_p.L227I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	227					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TGAGTTTGTTCTCCAATCCCG	0.413													False	0	False	1:86948009	0	A	86948009	C	A	86948009	3	1	88	1	0	0	0	0	1	0	0	0	3480	913	32	3	697	3	CLCA1	1	86948009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13238	86948009	162302612	740	8452											
CLCA4	22802	broad.mit.edu	37	chr1	87025637	87025637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggtgactacagcttctaCgtacctgtttgaagccacag	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87025637C>T	ENST00000370563.3	+	2	224	c.182C>T	c.(181-183)aCg>aTg	p.T61M	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	61						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.T61M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACAGCTTCTACGTACCTGTTT	0.343													False	0	False	1:87025637	0	T	87025637	C	T	87025637	3	4	88	1	0	0	0	0	1	0	0	0	3482	536	19	1	188	1	CLCA4	1	87025637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77628	87025637	162224984	741	8453											
CLCA4	22802	broad.mit.edu	37	chr1	87033243	87033243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagctaatccaaataaaaaGcagtgatgaaagaaacacac	6	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87033243G>T	ENST00000370563.3	+	7	1133	c.1091G>T	c.(1090-1092)aGc>aTc	p.S364I	CLCA4_ENST00000263723.5_Missense_Mutation_p.S77I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	364	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAAATAAAAAGCAGTGATGAA	0.398													False	0	True	1:87033243	0	T	87033243	G	T	87033243	3	4	88	1	0	0	0	0	1	0	0	0	3482	971	34	3	1117	3	CLCA4	1	87033243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7606	87033243	162217378	742	8454											
SH3GLB1	51100	broad.mit.edu	37	chr1	87185243	87185243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatagaaaagctccaagtCgtataaacaacccagaactt	7	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87185243C>T	ENST00000370558.4	+	3	592	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.R90C|SH3GLB1_ENST00000535010.1_5'UTR	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	90	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AGCTCCAAGTCGTATAAACAA	0.358													False	0	False	1:87185243	0	T	87185243	C	T	87185243	3	4	88	1	0	0	0	0	1	0	0	0	14334	884	31	1	278	1	SH3GLB1	1	87185243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152000	87185243	162065378	743	8455											
SEP15	0	broad.mit.edu	37	chr1	87329266	87329266	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtccaaaagctttaatAcagggtctgaaccacggaca	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87329266A>C	ENST00000331835.5	-	5	642	c.380T>G	c.(379-381)gTa>gGa	p.V127G	SEP15_ENST00000469566.1_5'UTR|SEP15_ENST00000401030.3_Missense_Mutation_p.Y141D|SEP15_ENST00000370554.1_Missense_Mutation_p.C110W	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN							'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		AAGCTTTAATACAGGGTCTGA	0.403													False	0	False	1:87329266	0	C	87329266	A	C	87329266	3	2	88	1	0	0	0	0	1	0	0	0	14134	392	14	4	112	4	SEP15	1	87329266	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	144023	87329266	161921355	744	8456											
HS2ST1	9653	broad.mit.edu	37	chr1	87549948	87549948	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcatggacacgtttcttaCttggattttgcaaagtaagt	8	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87549948C>A	ENST00000370550.5	+	3	798	c.435C>A	c.(433-435)taC>taA	p.Y145*	RP5-1052I5.2_ENST00000370548.2_Nonsense_Mutation_p.Y119*|HS2ST1_ENST00000370551.4_Nonsense_Mutation_p.Y145*|HS2ST1_ENST00000356813.4_Nonsense_Mutation_p.Y119*	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	145						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ACGTTTCTTACTTGGATTTTG	0.313													False	0	False	1:87549948	0	A	87549948	C	A	87549948	4	1	88	1	0	0	0	0	0	1	0	0	7409	576	20	3	445	3	HS2ST1	1	87549948	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220682	87549948	161700673	745	8457											
GBP1	2633	broad.mit.edu	37	chr1	89520419	89520419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcaactggaccctgtcGttctccatcttctcagtcag	7	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89520419G>A	ENST00000370473.4	-	10	1830	c.1611C>T	c.(1609-1611)aaC>aaT	p.N537N	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	537					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GGACCCTGTCGTTCTCCATCT	0.423													False	0	False	1:89520419	0	A	89520419	G	A	89520419	2	1	88	1	0	0	0	0	0	0	0	1	6316	1136	40	1		1	GBP1	1	89520419	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1970471	89520419	159730202	746	8458											
GBP1	2633	broad.mit.edu	37	chr1	89525106	89525106	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaggagtcattctggttgtCaccctggaagtcaagacaca	10	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89525106C>T	ENST00000370473.4	-	4	541	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	108					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTCTGGTTGTCACCCTGGAAG	0.483													False	0	False	1:89525106	0	T	89525106	C	T	89525106	3	4	88	1	0	0	0	0	1	0	0	0	6316	826	29	2	1488	2	GBP1	1	89525106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4687	89525106	159725515	747	8459											
GBP2	2634	broad.mit.edu	37	chr1	89575855	89575855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgttctcaccttcaatcGctttttccttttctgagagt	6	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89575855G>A	ENST00000370466.3	-	9	1725	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	486					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		ACCTTCAATCGCTTTTTCCTT	0.413													False	0	False	1:89575855	0	A	89575855	G	A	89575855	3	1	88	1	0	0	0	0	1	0	0	0	6317	1087	38	1	330	1	GBP2	1	89575855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50749	89575855	159674766	748	8460											
GBP2	2634	broad.mit.edu	37	chr1	89587545	89587545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccaccaccacaggctgCgtaattgcagataggatctt	9	13	1	1	rs140687152	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89587545C>T	ENST00000370466.3	-	2	373	c.105G>A	c.(103-105)acG>acA	p.T35T		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	35					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCACAGGCTGCGTAATTGCAG	0.527													False	0	False	1:89587545	0	T	89587545	C	T	89587545	2	4	88	1	0	0	0	0	0	0	0	1	6317	755	27	1		1	GBP2	1	89587545	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11690	89587545	159663076	749	8461											
GBP4	115361	broad.mit.edu	37	chr1	89652754	89652754	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attcctctacaaccacctgtGactgcaggaagttctggagg	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89652754G>A	ENST00000355754.6	-	9	1539	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	481						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AACCACCTGTGACTGCAGGAA	0.517													False	0	False	1:89652754	0	A	89652754	G	A	89652754	3	1	88	1	0	0	0	0	1	0	0	0	6319	1294	45	2	492	2	GBP4	1	89652754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65209	89652754	159597867	750	8462											
GBP4	115361	broad.mit.edu	37	chr1	89655896	89655896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcggctgccctctgcacaGccgctgggttctcaagctgg	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89655896G>A	ENST00000355754.6	-	7	1119	c.1022C>T	c.(1021-1023)gCt>gTt	p.A341V		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	341						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCTCTGCACAGCCGCTGGGTT	0.592													False	0	False	1:89655896	0	A	89655896	G	A	89655896	3	1	88	1	0	0	0	0	1	0	0	0	6319	971	34	2	920	2	GBP4	1	89655896	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3142	89655896	159594725	751	8463											
GBP4	115361	broad.mit.edu	37	chr1	89657065	89657065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattttcttctggcacttcGtccatatgatttaaatattg	6	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89657065G>A	ENST00000355754.6	-	6	892	c.795C>T	c.(793-795)gaC>gaT	p.D265D		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	265						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CTGGCACTTCGTCCATATGAT	0.418													False	0	False	1:89657065	0	A	89657065	G	A	89657065	2	1	88	1	0	0	0	0	0	0	0	1	6319	1136	40	1		1	GBP4	1	89657065	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1169	89657065	159593556	752	8464											
GBP5	115362	broad.mit.edu	37	chr1	89727941	89727941	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattttctgttgctctgccaGccaattttgtttggctatct	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89727941G>T	ENST00000343435.5	-	11	2145	c.1609C>A	c.(1609-1611)Ctg>Atg	p.L537M	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.L537M|GBP5_ENST00000471171.1_5'UTR	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	537						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TGCTCTGCCAGCCAATTTTGT	0.468													False	0	True	1:89727941	0	T	89727941	G	T	89727941	3	4	88	1	0	0	0	0	1	0	0	0	6320	962	34	3	159	3	GBP5	1	89727941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70876	89727941	159522680	753	8465											
LRRC8B	23507	broad.mit.edu	37	chr1	90048877	90048877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcatagaaagcccaacttCcagtgtcctggacaagaagg	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90048877C>T	ENST00000330947.2	+	5	1028	c.668C>T	c.(667-669)tCc>tTc	p.S223F	LRRC8B_ENST00000358200.4_Missense_Mutation_p.S223F|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Missense_Mutation_p.S223F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	223						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGCCCAACTTCCAGTGTCCTG	0.488													False	0	False	1:90048877	0	T	90048877	C	T	90048877	3	4	88	1	0	0	0	0	1	0	0	0	9084	855	30	2	670	2	LRRC8B	1	90048877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	320936	90048877	159201744	754	8466											
LRRC8C	84230	broad.mit.edu	37	chr1	90178779	90178779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtctttaaagtccattcCtgagaagtttgtagttgata	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90178779C>A	ENST00000370454.4	+	3	905	c.650C>A	c.(649-651)cCt>cAt	p.P217H	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	217						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAGTCCATTCCTGAGAAGTTT	0.453													False	0	False	1:90178779	0	A	90178779	C	A	90178779	3	1	88	1	0	0	0	0	1	0	0	0	9085	681	24	3	656	3	LRRC8C	1	90178779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129902	90178779	159071842	755	8467											
LRRC8C	84230	broad.mit.edu	37	chr1	90179146	90179146	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtgcctttataccttataCtggctgttctaccgttctct	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90179146C>A	ENST00000370454.4	+	3	1272	c.1017C>A	c.(1015-1017)taC>taA	p.Y339*	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	339						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATACCTTATACTGGCTGTTCT	0.388													False	0	False	1:90179146	0	A	90179146	C	A	90179146	4	1	88	1	0	0	0	0	0	1	0	0	9085	576	20	3	1023	3	LRRC8C	1	90179146	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367	90179146	159071475	756	8468											
LRRC8D	55144	broad.mit.edu	37	chr1	90398904	90398904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaccaagaccaagatgggCggacaacaaacgacatttcc	8	13	0	2	rs139352797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90398904C>T	ENST00000337338.5	+	3	684	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	LRRC8D_ENST00000394593.3_Missense_Mutation_p.R93W	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	93						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CCAAGATGGGCGGACAACAAA	0.493													False	0	True	1:90398904	0	T	90398904	C	T	90398904	3	4	88	1	0	0	0	0	1	0	0	0	9086	759	27	1	279	1	LRRC8D	1	90398904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219758	90398904	158851717	757	8469											
LRRC8D	55144	broad.mit.edu	37	chr1	90399281	90399281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttgtctgagacagcatgCgaagactcagaggaaaacaa	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90399281C>T	ENST00000337338.5	+	3	1061	c.654C>T	c.(652-654)tgC>tgT	p.C218C	LRRC8D_ENST00000394593.3_Silent_p.C218C	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	218						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGACAGCATGCGAAGACTCAG	0.443													False	0	False	1:90399281	0	T	90399281	C	T	90399281	2	4	88	1	0	0	0	0	0	0	0	1	9086	776	27	1		1	LRRC8D	1	90399281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	377	90399281	158851340	758	8470											
LRRC8D	55144	broad.mit.edu	37	chr1	90399638	90399638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgcaatcagctttgaacaCgtctgcaagcccaaagttga	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90399638C>T	ENST00000337338.5	+	3	1418	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	LRRC8D_ENST00000394593.3_Silent_p.H337H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	337						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCTTTGAACACGTCTGCAAGC	0.383													False	0	False	1:90399638	0	T	90399638	C	T	90399638	2	4	88	1	0	0	0	0	0	0	0	1	9086	535	19	1		1	LRRC8D	1	90399638	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	357	90399638	158850983	759	8471											
LRRC8D	55144	broad.mit.edu	37	chr1	90400677	90400677	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtttccagcatttaaaaCgactgacttgtttaaaatta	5	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90400677C>T	ENST00000337338.5	+	3	2457	c.2050C>T	c.(2050-2052)Cga>Tga	p.R684*	LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.R684*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	684						integral to membrane	protein binding	p.R684*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCATTTAAAACGACTGACTTG	0.343													False	0	True	1:90400677	0	T	90400677	C	T	90400677	4	4	88	1	0	0	0	0	0	1	0	0	9086	528	19	1	2052	1	LRRC8D	1	90400677	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1039	90400677	158849944	760	8472											
ZNF326	284695	broad.mit.edu	37	chr1	90470725	90470725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggccatggatcctatgGgggtcagagatccatggatt	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90470725G>A	ENST00000370447.3	+	4	252	c.131G>A	c.(130-132)gGg>gAg	p.G44E	ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000340281.4_Missense_Mutation_p.G44E|ZNF326_ENST00000361911.5_Missense_Mutation_p.G44E			Q5BKZ1	ZN326_HUMAN	zinc finger protein 326		Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GGATCCTATGGGGGTCAGAGA	0.423													False	0	True	1:90470725	0	A	90470725	G	A	90470725	3	1	88	1	0	0	0	0	1	0	0	0	17929	1232	43	2	145	2	ZNF326	1	90470725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70048	90470725	158779896	761	8473											
BARHL2	343472	broad.mit.edu	37	chr1	91182141	91182141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcaccgtggcatttgatGtcgctctgggaatcctcccg	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91182141G>A	ENST00000370445.4	-	1	653	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	204						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GGCATTTGATGTCGCTCTGGG	0.602													False	0	False	1:91182141	0	A	91182141	G	A	91182141	2	1	88	1	0	0	0	0	0	0	0	1	1318	1368	48	2		2	BARHL2	1	91182141	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	711416	91182141	158068480	762	8474											
ZNF644	84146	broad.mit.edu	37	chr1	91405757	91405757	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatttcttttttaaggtaTttgaaagaaaagtgctagta	7	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91405757T>C	ENST00000370440.1	-	3	1371	c.1154A>G	c.(1153-1155)aAt>aGt	p.N385S	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.N385S|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTAAGGTATTTGAAAGAAA	0.388													False	0	True	1:91405757	0	C	91405757	T	C	91405757	3	2	88	1	0	0	0	0	1	0	0	0	18143	1493	52	4	2845	4	ZNF644	1	91405757	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	223616	91405757	157844864	763	8475											
ZNF644	84146	broad.mit.edu	37	chr1	91405961	91405961	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacttcttgcatttttgatTtattgggtacacaattagaa	6	6	1	2	rs145118167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91405961T>G	ENST00000370440.1	-	3	1167	c.950A>C	c.(949-951)aAa>aCa	p.K317T	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.K317T|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CATTTTTGATTTATTGGGTAC	0.328													False	0	True	1:91405961	0	G	91405961	T	G	91405961	3	3	88	1	0	0	0	0	1	0	0	0	18143	1841	64	4	3049	4	ZNF644	1	91405961	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	204	91405961	157844660	764	8476											
ZNF644	84146	broad.mit.edu	37	chr1	91406463	91406463	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttcaaagttgaacaagattCtgttgttggctgatccacag	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91406463C>A	ENST00000370440.1	-	3	665	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E150*|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GAACAAGATTCTGTTGTTGGC	0.403													False	0	False	1:91406463	0	A	91406463	C	A	91406463	4	1	88	1	0	0	0	0	0	1	0	0	18143	922	32	3	3551	3	ZNF644	1	91406463	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	502	91406463	157844158	765	8477											
HFM1	164045	broad.mit.edu	37	chr1	91781522	91781522	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgccgtcgtatcactatatCttgtaatctttaaaaaagga	6	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91781522C>A	ENST00000370425.3	-	28	3088	c.2990G>T	c.(2989-2991)aGa>aTa	p.R997I	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.R676I|HFM1_ENST00000294696.5_Missense_Mutation_p.R229I	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	997	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATCACTATATCTTGTAATCTT	0.303													False	0	False	1:91781522	0	A	91781522	C	A	91781522	3	1	88	1	0	0	0	0	1	0	0	0	7130	913	32	3	1365	3	HFM1	1	91781522	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375059	91781522	157469099	766	8478											
HFM1	164045	broad.mit.edu	37	chr1	91841173	91841173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacttaaactcagtttggtTactactgcagggaaatccaa	7	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91841173T>C	ENST00000370425.3	-	12	1605	c.1507A>G	c.(1507-1509)Aac>Gac	p.N503D	HFM1_ENST00000370424.3_Missense_Mutation_p.N182D|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	503							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCAGTTTGGTTACTACTGCAG	0.408													False	0	False	1:91841173	0	C	91841173	T	C	91841173	3	2	88	1	0	0	0	0	1	0	0	0	7130	1754	61	4	2912	4	HFM1	1	91841173	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59651	91841173	157409448	767	8479											
CDC7	8317	broad.mit.edu	37	chr1	91967338	91967338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctccccagcgtgaccggtTtcaggctgaaggctctttaa	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91967338T>C	ENST00000428239.1	+	2	324	c.65T>C	c.(64-66)tTt>tCt	p.F22S	CDC7_ENST00000430031.2_Missense_Mutation_p.F22S|CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Missense_Mutation_p.F22S	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	22					cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CGTGACCGGTTTCAGGCTGAA	0.428													False	0	True	1:91967338	0	C	91967338	T	C	91967338	3	2	88	1	0	0	0	0	1	0	0	0	3107	1841	64	4	67	4	CDC7	1	91967338	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126165	91967338	157283283	768	8480											
TGFBR3	7049	broad.mit.edu	37	chr1	92200439	92200439	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagatgttcatttccatgGgggaagttcctttcttctgt	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92200439G>T	ENST00000212355.4	-	5	927	c.462C>A	c.(460-462)ccC>ccA	p.P154P	TGFBR3_ENST00000370399.2_Silent_p.P154P|TGFBR3_ENST00000525962.1_Silent_p.P154P|TGFBR3_ENST00000468996.2_5'UTR	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	154					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CATTTCCATGGGGGAAGTTCC	0.413													False	0	True	1:92200439	0	T	92200439	G	T	92200439	2	4	88	1	0	0	0	0	0	0	0	1	15905	1219	43	3		3	TGFBR3	1	92200439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233101	92200439	157050182	769	8481											
BRDT	676	broad.mit.edu	37	chr1	92446276	92446276	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaataaaaagaaagagaagtCtaaaaaggaaaagaaaaaag	8	1	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92446276C>A	ENST00000370389.2	+	9	2069	c.1145C>A	c.(1144-1146)tCt>tAt	p.S382Y	BRDT_ENST00000362005.3_Missense_Mutation_p.S455Y|BRDT_ENST00000399546.2_Missense_Mutation_p.S455Y|BRDT_ENST00000394530.3_Missense_Mutation_p.S409Y|BRDT_ENST00000402388.1_Missense_Mutation_p.S455Y	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAAGAGAAGTCTAAAAAGGAA	0.323													False	0	False	1:92446276	0	A	92446276	C	A	92446276	3	1	88	1	0	0	0	0	1	0	0	0	1515	913	32	3	1394	3	BRDT	1	92446276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245837	92446276	156804345	770	8482											
EPHX4	253152	broad.mit.edu	37	chr1	92518101	92518101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttaccagtcacagcactgGcattggaagaaaaggatgcc	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92518101G>T	ENST00000370383.4	+	6	841	c.743G>T	c.(742-744)gGc>gTc	p.G248V		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	248						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						CACAGCACTGGCATTGGAAGA	0.338													False	0	False	1:92518101	0	T	92518101	G	T	92518101	3	4	88	1	0	0	0	0	1	0	0	0	5214	1203	42	3	765	3	EPHX4	1	92518101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71825	92518101	156732520	771	8483											
BTBD8	284697	broad.mit.edu	37	chr1	92568203	92568203	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccagaggatatcagtgacaGagatgatgatttcatttcca	9	7	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92568203G>A	ENST00000370382.3	+	3	788	c.521G>A	c.(520-522)aGa>aAa	p.R174K	BTBD8_ENST00000540648.1_Missense_Mutation_p.R174K|BTBD8_ENST00000342818.3_Missense_Mutation_p.R174K			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	174						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATCAGTGACAGAGATGATGAT	0.333													False	0	False	1:92568203	0	A	92568203	G	A	92568203	3	1	88	1	0	0	0	0	1	0	0	0	1554	942	33	2	531	2	BTBD8	1	92568203	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50102	92568203	156682418	772	8484											
GLMN	11146	broad.mit.edu	37	chr1	92754605	92754605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccatagtcatccatttgTatttgttcttttgagtatgg	9	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92754605T>C	ENST00000370360.3	-	6	579	c.498A>G	c.(496-498)atA>atG	p.I166M	GLMN_ENST00000534881.1_Missense_Mutation_p.I166M	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	166					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		CATCCATTTGTATTTGTTCTT	0.373									Multiple Glomus Tumors (of the Skin), Familial				False	0	True	1:92754605	0	C	92754605	T	C	92754605	3	2	88	1	0	0	0	0	1	0	0	0	6493	1628	57	4	1342	4	GLMN	1	92754605	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	186402	92754605	156496016	773	8485											
RPAP2	79871	broad.mit.edu	37	chr1	92789302	92789302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcactgagcagttaggCgattgcaaattagatagtca	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92789302C>T	ENST00000610020.1	+	8	934	c.825C>T	c.(823-825)ggC>ggT	p.G275G	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCAGTTAGGCGATTGCAAAT	0.373													False	0	False	1:92789302	0	T	92789302	C	T	92789302	2	4	88	1	0	0	0	0	0	0	0	1	13621	755	27	1		1	RPAP2	1	92789302	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34697	92789302	156461319	774	8486											
RPAP2	79871	broad.mit.edu	37	chr1	92801960	92801960	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagatatttacacacaacTtaaaaatcttgttcgaactt	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92801960T>G	ENST00000610020.1	+	10	1704	c.1595T>G	c.(1594-1596)cTt>cGt	p.L532R		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TACACACAACTTAAAAATCTT	0.299													False	0	False	1:92801960	0	G	92801960	T	G	92801960	3	3	88	1	0	0	0	0	1	0	0	0	13621	1609	56	4	1633	4	RPAP2	1	92801960	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12658	92801960	156448661	775	8487											
RPAP2	79871	broad.mit.edu	37	chr1	92846382	92846382	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attacatctaaaaaatgaagAccttgaaagtctaaccatca	4	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92846382A>G	ENST00000610020.1	+	12	1899	c.1790A>G	c.(1789-1791)gAc>gGc	p.D597G		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AAAAATGAAGACCTTGAAAGT	0.368													False	0	False	1:92846382	0	G	92846382	A	G	92846382	3	3	88	1	0	0	0	0	1	0	0	0	13621	275	10	4	1836	4	RPAP2	1	92846382	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44422	92846382	156404239	776	8488											
EVI5	7813	broad.mit.edu	37	chr1	93089889	93089889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtagtacgagctaagtgGcgctaaagcataaaaaatta	9	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93089889G>A	ENST00000370331.1	-	14	1632	c.1623C>T	c.(1621-1623)cgC>cgT	p.R541R	EVI5_ENST00000540033.1_Silent_p.R541R|EVI5_ENST00000543509.1_Silent_p.R552R|EVI5_ENST00000491940.1_5'UTR	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	541	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GAGCTAAGTGGCGCTAAAGCA	0.368													False	0	False	1:93089889	0	A	93089889	G	A	93089889	2	1	88	1	0	0	0	0	0	0	0	1	5321	1190	42	2		2	EVI5	1	93089889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243507	93089889	156160732	777	8489											
FAM69A	388650	broad.mit.edu	37	chr1	93341969	93341969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaaagatatttcatccGcacatatgagaagcgagcct	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93341969G>A	ENST00000370310.4	-	2	143	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	25						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		TATTTCATCCGCACATATGAG	0.383													False	0	False	1:93341969	0	A	93341969	G	A	93341969	3	1	88	1	0	0	0	0	1	0	0	0	5642	1086	38	1	1229	1	FAM69A	1	93341969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	252080	93341969	155908652	778	8490											
MTF2	22823	broad.mit.edu	37	chr1	93586135	93586135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacacctatgcctttacaAcctaagtgttattcataaga	5	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93586135A>C	ENST00000370298.4	+	9	1116	c.827A>C	c.(826-828)aAc>aCc	p.N276T	MTF2_ENST00000370303.4_Missense_Mutation_p.N276T|MTF2_ENST00000545708.1_Missense_Mutation_p.N174T|MTF2_ENST00000471953.1_Intron|MTF2_ENST00000540243.1_Missense_Mutation_p.N174T	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	276						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TGCCTTTACAACCTAAGTGTT	0.343													False	0	False	1:93586135	0	C	93586135	A	C	93586135	3	2	88	1	0	0	0	0	1	0	0	0	9990	43	2	4	861	4	MTF2	1	93586135	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	244166	93586135	155664486	779	8491											
CCDC18	343099	broad.mit.edu	37	chr1	93646151	93646151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgtagtcccgggcgggctCcgctagtgggctcgggcgcg	18	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93646151C>T	ENST00000557479.1	+	1	232	c.64C>T	c.(64-66)Ccg>Tcg	p.P22S	CCDC18_ENST00000401026.3_5'UTR|TMED5_ENST00000370282.3_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000334652.5_5'UTR	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CGGGCGGGCTCCGCTAGTGGG	0.731													False	0	False	1:93646151	0	T	93646151	C	T	93646151	3	4	88	1	0	0	0	0	1	0	0	0	2815	855	30	2	66	2	CCDC18	1	93646151	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60016	93646151	155604470	780	8492											
CCDC18	343099	broad.mit.edu	37	chr1	93701841	93701841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaacttcaaaaacaaaggGaaagttcagctgaaaagttg	9	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93701841G>A	ENST00000343253.7	+	19	2996	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	CCDC18_ENST00000401026.3_Missense_Mutation_p.E833K|CCDC18_ENST00000557479.1_Missense_Mutation_p.E951K|CCDC18_ENST00000338949.4_Missense_Mutation_p.E588K|CCDC18_ENST00000334652.5_Missense_Mutation_p.E128K|CCDC18_ENST00000421014.2_Intron			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	832										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAAACAAAGGGAAAGTTCAGC	0.328													False	0	True	1:93701841	0	A	93701841	G	A	93701841	3	1	88	1	0	0	0	0	1	0	0	0	2815	1175	41	2	2925	2	CCDC18	1	93701841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55690	93701841	155548780	781	8493											
FNBP1L	54874	broad.mit.edu	37	chr1	93998513	93998513	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaacgaaggactattaAactcagtgagtgttacagag	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93998513A>C	ENST00000260506.8	+	8	825	c.674A>C	c.(673-675)aAa>aCa	p.K225T	FNBP1L_ENST00000370253.2_Missense_Mutation_p.K225T|FNBP1L_ENST00000370256.4_Missense_Mutation_p.K225T|FNBP1L_ENST00000271234.7_Missense_Mutation_p.K225T|FNBP1L_ENST00000604705.1_Missense_Mutation_p.K225T	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	225	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGGACTATTAAACTCAGTGAG	0.323													False	0	True	1:93998513	0	C	93998513	A	C	93998513	3	2	88	1	0	0	0	0	1	0	0	0	6006	14	1	4	704	4	FNBP1L	1	93998513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	296672	93998513	155252108	782	8494											
FNBP1L	54874	broad.mit.edu	37	chr1	93998540	93998540	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgttacagaggatttgCtgactcagaacgcaaagtta	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93998540C>A	ENST00000260506.8	+	8	852	c.701C>A	c.(700-702)gCt>gAt	p.A234D	FNBP1L_ENST00000370253.2_Missense_Mutation_p.A234D|FNBP1L_ENST00000370256.4_Missense_Mutation_p.A234D|FNBP1L_ENST00000271234.7_Missense_Mutation_p.A234D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.A234D	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	234	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGAGGATTTGCTGACTCAGAA	0.328													False	0	False	1:93998540	0	A	93998540	C	A	93998540	3	1	88	1	0	0	0	0	1	0	0	0	6006	797	28	3	731	3	FNBP1L	1	93998540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	93998540	155252081	783	8495											
BCAR3	8412	broad.mit.edu	37	chr1	94140364	94140364	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtatagacacatcttgataGgcatctgggcgatgctcagc	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94140364G>T	ENST00000370244.1	-	4	411	c.123C>A	c.(121-123)gcC>gcA	p.A41A	BCAR3_ENST00000370243.1_Silent_p.A41A|BCAR3_ENST00000260502.6_Silent_p.A41A	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	41					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CATCTTGATAGGCATCTGGGC	0.562													False	0	False	1:94140364	0	T	94140364	G	T	94140364	2	4	88	1	0	0	0	0	0	0	0	1	1353	987	35	3		3	BCAR3	1	94140364	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141824	94140364	155110257	784	8496											
DNTTIP2	30836	broad.mit.edu	37	chr1	94342258	94342258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattcccttcactgttcatGtcttcactgacacttataac	3	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94342258G>A	ENST00000436063.2	-	2	1290	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CACTGTTCATGTCTTCACTGA	0.398													False	0	False	1:94342258	0	A	94342258	G	A	94342258	2	1	88	1	0	0	0	0	0	0	0	1	4712	1368	48	2		2	DNTTIP2	1	94342258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201894	94342258	154908363	785	8497											
GCLM	2730	broad.mit.edu	37	chr1	94354716	94354716	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acttgcttcagaaagcagttCtaaaagaaacaacaacaaac	5	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94354716C>A	ENST00000370238.3	-	7	902		c.e7-1			NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit						glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	GAAAGCAGTTCTAAAAGAAAC	0.408													False	0	False	1:94354716	0	A	94354716	C	A	94354716	5	1	88	1	0	0	0	0	0	0	1	0	6339	927	32	3	173	3	GCLM	1	94354716	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12458	94354716	154895905	786	8498											
ABCA4	24	broad.mit.edu	37	chr1	94471006	94471006	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatttttcaccttttcgatTtcttctgctggtacacctcg	5	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94471006T>G	ENST00000370225.3	-	44	6224	c.6138A>C	c.(6136-6138)gaA>gaC	p.E2046D	ABCA4_ENST00000535881.1_Missense_Mutation_p.E165D|ABCA4_ENST00000536513.1_Missense_Mutation_p.E316D|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2046	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCTTTTCGATTTCTTCTGCTG	0.433													False	0	True	1:94471006	0	G	94471006	T	G	94471006	3	3	88	1	0	0	0	0	1	0	0	0	34	1838	64	4	711	4	ABCA4	1	94471006	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	116290	94471006	154779615	787	8499											
ABCA4	24	broad.mit.edu	37	chr1	94512539	94512539	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatctggttctcgtagaaggTgatgttcagacggtccacag	13	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94512539T>C	ENST00000370225.3	-	19	2940	c.2854A>G	c.(2854-2856)Acc>Gcc	p.T952A	ABCA4_ENST00000535735.1_Missense_Mutation_p.T878A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	952	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCGTAGAAGGTGATGTTCAGA	0.547													False	0	False	1:94512539	0	C	94512539	T	C	94512539	3	2	88	1	0	0	0	0	1	0	0	0	34	1696	59	4	4095	4	ABCA4	1	94512539	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41533	94512539	154738082	788	8500											
ABCA4	24	broad.mit.edu	37	chr1	94514490	94514490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcggtcttttccagggCtctttcttctctggttgaac	11	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94514490C>T	ENST00000370225.3	-	18	2763	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	ABCA4_ENST00000535735.1_Missense_Mutation_p.A819T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	893					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTTCCAGGGCTCTTTCTTCT	0.532													False	0	True	1:94514490	0	T	94514490	C	T	94514490	3	4	88	1	0	0	0	0	1	0	0	0	34	797	28	2	4276	2	ABCA4	1	94514490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1951	94514490	154736131	789	8501											
ABCA4	24	broad.mit.edu	37	chr1	94522198	94522198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatgcggtcctgccaggCgaagcacaggatgtgtggca	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94522198C>T	ENST00000370225.3	-	15	2427	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	781					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTGCCAGGCGAAGCACAGG	0.582													False	0	False	1:94522198	0	T	94522198	C	T	94522198	3	4	88	1	0	0	0	0	1	0	0	0	34	768	27	1	4624	1	ABCA4	1	94522198	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7708	94522198	154728423	790	8502											
ABCA4	24	broad.mit.edu	37	chr1	94528169	94528169	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggtagggcatctgctggAggtagattccaactggagcc	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94528169A>G	ENST00000370225.3	-	13	1987	c.1901T>C	c.(1900-1902)cTc>cCc	p.L634P	ABCA4_ENST00000535735.1_Missense_Mutation_p.L634P	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	634					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATCTGCTGGAGGTAGATTCC	0.592													False	0	False	1:94528169	0	G	94528169	A	G	94528169	3	3	88	1	0	0	0	0	1	0	0	0	34	304	11	4	5072	4	ABCA4	1	94528169	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5971	94528169	154722452	791	8503											
ARHGAP29	9411	broad.mit.edu	37	chr1	94639786	94639786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggtaggaatctgaagacCgtctctcagatgcctctctc	11	11	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94639786C>T	ENST00000260526.6	-	23	3607	c.3425G>A	c.(3424-3426)cGg>cAg	p.R1142Q		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1142					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATCTGAAGACCGTCTCTCAGA	0.498													False	0	False	1:94639786	0	T	94639786	C	T	94639786	3	4	88	1	0	0	0	0	1	0	0	0	880	652	23	1	364	1	ARHGAP29	1	94639786	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111617	94639786	154610835	792	8504											
ARHGAP29	9411	broad.mit.edu	37	chr1	94643259	94643259	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaaaaattttgctttcactCtctgaagtatggatatcctg	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94643259C>T	ENST00000260526.6	-	22	2996	c.2814G>A	c.(2812-2814)gaG>gaA	p.E938E	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	938					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGCTTTCACTCTCTGAAGTAT	0.333													False	0	True	1:94643259	0	T	94643259	C	T	94643259	2	4	88	1	0	0	0	0	0	0	0	1	880	912	32	2		2	ARHGAP29	1	94643259	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3473	94643259	154607362	793	8505											
ARHGAP29	9411	broad.mit.edu	37	chr1	94643433	94643433	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaaaaaaatagtgacTtcatggaacgttcaatgtct	8	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94643433T>A	ENST00000260526.6	-	21	2953	c.2771A>T	c.(2770-2772)aAg>aTg	p.K924M	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	924					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAATAGTGACTTCATGGAACG	0.323													False	0	False	1:94643433	0	A	94643433	T	A	94643433	3	1	88	1	0	0	0	0	1	0	0	0	880	1609	56	5	1026	5	ARHGAP29	1	94643433	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174	94643433	154607188	794	8506											
ARHGAP29	9411	broad.mit.edu	37	chr1	94668169	94668169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagattttttgctaatccGccacttgaagacagatgctc	8	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94668169G>A	ENST00000260526.6	-	11	1256	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	ARHGAP29_ENST00000370217.3_Silent_p.G358G	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	358					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGCTAATCCGCCACTTGAAG	0.373													False	0	False	1:94668169	0	A	94668169	G	A	94668169	2	1	88	1	0	0	0	0	0	0	0	1	880	1074	38	1		1	ARHGAP29	1	94668169	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24736	94668169	154582452	795	8507											
ARHGAP29	9411	broad.mit.edu	37	chr1	94670714	94670714	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctcgatagagtcagtgttCtttaacagcacgttgtctag	10	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94670714C>A	ENST00000260526.6	-	7	782	c.600G>T	c.(598-600)aaG>aaT	p.K200N	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.K200N	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	200					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AGTCAGTGTTCTTTAACAGCA	0.338													False	0	True	1:94670714	0	A	94670714	C	A	94670714	3	1	88	1	0	0	0	0	1	0	0	0	880	912	32	3	3253	3	ARHGAP29	1	94670714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2545	94670714	154579907	796	8508											
ABCD3	5825	broad.mit.edu	37	chr1	94955289	94955289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaattttagttttactgCtcggattacagaattaatgc	6	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94955289C>A	ENST00000370214.4	+	14	1190	c.1166C>A	c.(1165-1167)gCt>gAt	p.A389D	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Missense_Mutation_p.A413D|ABCD3_ENST00000394233.2_Missense_Mutation_p.A279D|ABCD3_ENST00000536817.1_Missense_Mutation_p.A316D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	389					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGTTTTACTGCTCGGATTACA	0.313													False	0	False	1:94955289	0	A	94955289	C	A	94955289	3	1	88	1	0	0	0	0	1	0	0	0	62	797	28	3	1251	3	ABCD3	1	94955289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284575	94955289	154295332	797	8509											
ABCD3	5825	broad.mit.edu	37	chr1	94965137	94965137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgttcaggattggatggaCgtactcagtggtggagaaaa	15	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94965137C>T	ENST00000370214.4	+	20	1731	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Silent_p.D593D|ABCD3_ENST00000394233.2_Silent_p.D459D|ABCD3_ENST00000536817.1_Silent_p.D496D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	569	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ATTGGATGGACGTACTCAGTG	0.438													False	0	True	1:94965137	0	T	94965137	C	T	94965137	2	4	88	1	0	0	0	0	0	0	0	1	62	535	19	1		1	ABCD3	1	94965137	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9848	94965137	154285484	798	8510											
CNN3	1266	broad.mit.edu	37	chr1	95363358	95363358	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtagtcatcctggtactcGccatgatactcatcagggta	11	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:95363358G>A	ENST00000370206.4	-	7	1313	c.930C>T	c.(928-930)ggC>ggT	p.G310G	CNN3_ENST00000545882.1_Silent_p.G269G|CNN3_ENST00000538964.1_Silent_p.G310G|CNN3_ENST00000394202.4_Silent_p.G264G	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	310	Asp/Glu-rich (acidic).				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CCTGGTACTCGCCATGATACT	0.428													False	0	False	1:95363358	0	A	95363358	G	A	95363358	2	1	88	1	0	0	0	0	0	0	0	1	3634	1074	38	1		1	CNN3	1	95363358	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	398221	95363358	153887263	799	8511											
CNN3	1266	broad.mit.edu	37	chr1	95369040	95369040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcttctatccaattgCgaagatcttcttctgcctga	5	13	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:95369040C>T	ENST00000370206.4	-	2	481	c.98G>A	c.(97-99)cGc>cAc	p.R33H	CNN3_ENST00000545882.1_5'UTR|CNN3_ENST00000538964.1_Missense_Mutation_p.R33H|CNN3_ENST00000394202.4_Missense_Mutation_p.R33H	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	33	CH.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TATCCAATTGCGAAGATCTTC	0.458													False	0	False	1:95369040	0	T	95369040	C	T	95369040	3	4	88	1	0	0	0	0	1	0	0	0	3634	768	27	1	915	1	CNN3	1	95369040	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5682	95369040	153881581	800	8512											
PTBP2	58155	broad.mit.edu	37	chr1	97217025	97217025	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagtgttctcagtagtccGaactctaatatgagcagcat	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97217025G>A	ENST00000609116.1	+	3	166	c.84G>A	c.(82-84)ccG>ccA	p.P28P	PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000394184.3_Silent_p.P39P|PTBP2_ENST00000370197.1_Silent_p.P28P|PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000426398.2_Silent_p.P28P|PTBP2_ENST00000370198.1_Silent_p.P28P			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2								nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TCAGTAGTCCGAACTCTAATA	0.348													False	0	False	1:97217025	0	A	97217025	G	A	97217025	2	1	88	1	0	0	0	0	0	0	0	1	12802	1045	37	1		1	PTBP2	1	97217025	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1847985	97217025	152033596	801	8513											
DPYD	1806	broad.mit.edu	37	chr1	97564175	97564175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgttccagataaggtccaAaacttggcagtttctaaaag	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97564175A>G	ENST00000370192.3	-	21	2736	c.2636T>C	c.(2635-2637)tTt>tCt	p.F879S	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	879					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATAAGGTCCAAAACTTGGCAG	0.323													False	0	True	1:97564175	0	G	97564175	A	G	97564175	3	3	88	1	0	0	0	0	1	0	0	0	4775	14	1	4	453	4	DPYD	1	97564175	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	347150	97564175	151686446	802	8514											
DPYD	1806	broad.mit.edu	37	chr1	97771751	97771751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcctttgcagctcttgCgatgctcacaatatcagtga	7	12	3	1	rs145548112		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97771751C>T	ENST00000370192.3	-	17	2261	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	721					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCAGCTCTTGCGATGCTCACA	0.458													False	0	False	1:97771751	0	T	97771751	C	T	97771751	3	4	88	1	0	0	0	0	1	0	0	0	4775	768	27	1	944	1	DPYD	1	97771751	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207576	97771751	151478870	803	8515											
SNX7	51375	broad.mit.edu	37	chr1	99161105	99161105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacaagaagcaaggtcctgGcttgctaagcaggatggggc	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99161105G>T	ENST00000370189.5	+	6	843	c.479G>T	c.(478-480)gGc>gTc	p.G160V	SNX7_ENST00000529992.1_Missense_Mutation_p.G169V|SNX7_ENST00000306121.3_Missense_Mutation_p.G224V			Q9UNH6	SNX7_HUMAN	sorting nexin 7	160					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CAAGGTCCTGGCTTGCTAAGC	0.408													False	0	False	1:99161105	0	T	99161105	G	T	99161105	3	4	88	1	0	0	0	0	1	0	0	0	14987	1203	42	3	689	3	SNX7	1	99161105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1389354	99161105	150089516	804	8516											
SNX7	51375	broad.mit.edu	37	chr1	99161198	99161198	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcatggaaatgaataActttattgaactatttagcc	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99161198A>C	ENST00000370189.5	+	6	936	c.572A>C	c.(571-573)aAc>aCc	p.N191T	SNX7_ENST00000529992.1_Missense_Mutation_p.N200T|SNX7_ENST00000306121.3_Missense_Mutation_p.N255T			Q9UNH6	SNX7_HUMAN	sorting nexin 7	191					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GAAATGAATAACTTTATTGAA	0.383													False	0	False	1:99161198	0	C	99161198	A	C	99161198	3	2	88	1	0	0	0	0	1	0	0	0	14987	43	2	4	782	4	SNX7	1	99161198	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	93	99161198	150089423	805	8517											
LPPR5	0	broad.mit.edu	37	chr1	99470004	99470004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttaccacgagcacggggAccccggcggccagcgagtag	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99470004A>G	ENST00000370188.3	-	1	584	c.224T>C	c.(223-225)gTc>gCc	p.V75A	RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000534652.1_5'UTR|LPPR5_ENST00000263177.4_Missense_Mutation_p.V75A	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		75						integral to membrane	hydrolase activity										GAGCACGGGGACCCCGGCGGC	0.726													False	0	True	1:99470004	0	G	99470004	A	G	99470004	3	3	88	1	0	0	0	0	1	0	0	0	8990	275	10	4	765	4	LPPR5	1	99470004	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	308806	99470004	149780617	806	8518											
LPPR4	0	broad.mit.edu	37	chr1	99771377	99771377	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatggtagcagcagtgatgGaattgctcatacagaaggca	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99771377G>A	ENST00000370185.3	+	7	1600	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	LPPR4_ENST00000370184.1_Missense_Mutation_p.G210E|LPPR4_ENST00000457765.1_Missense_Mutation_p.G310E	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		368							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCAGTGATGGAATTGCTCAT	0.448													False	0	False	1:99771377	0	A	99771377	G	A	99771377	3	1	88	1	0	0	0	0	1	0	0	0	8989	1174	41	2	1129	2	LPPR4	1	99771377	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	301373	99771377	149479244	807	8519											
LPPR4	0	broad.mit.edu	37	chr1	99771527	99771527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccttcagcaataccttgcCgcgagccaataccccatctg	6	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99771527C>T	ENST00000370185.3	+	7	1750	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	LPPR4_ENST00000370184.1_Missense_Mutation_p.P260L|LPPR4_ENST00000457765.1_Missense_Mutation_p.P360L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		418							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATACCTTGCCGCGAGCCAAT	0.498													False	0	False	1:99771527	0	T	99771527	C	T	99771527	3	4	88	1	0	0	0	0	1	0	0	0	8989	652	23	1	1279	1	LPPR4	1	99771527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150	99771527	149479094	808	8520											
PALMD	54873	broad.mit.edu	37	chr1	100155441	100155441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaacaggtaataaaaatgAcaaggcatgccactgctgtt	8	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100155441A>G	ENST00000605497.1	+	7	1750	c.1625A>G	c.(1624-1626)gAc>gGc	p.D542G	PALMD_ENST00000263174.4_Intron			Q9NP74	PALMD_HUMAN	palmdelphin	0					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AATAAAAATGACAAGGCATGC	0.468													False	0	False	1:100155441	0	G	100155441	A	G	100155441	3	3	88	1	0	0	0	0	1	0	0	0	11479	290	10	4		4	PALMD	1	100155441	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	383914	100155441	149095180	809	8521											
AGL	178	broad.mit.edu	37	chr1	100329978	100329978	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaccccattgcagactcTtggactatctaggtcatgct	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100329978T>G	ENST00000294724.4	+	5	975	c.497T>G	c.(496-498)cTt>cGt	p.L166R	AGL_ENST00000370163.3_Missense_Mutation_p.L166R|AGL_ENST00000361915.3_Missense_Mutation_p.L166R|AGL_ENST00000370165.3_Missense_Mutation_p.L166R|AGL_ENST00000361522.4_Missense_Mutation_p.L149R|AGL_ENST00000361302.3_Missense_Mutation_p.L150R|AGL_ENST00000370161.2_Missense_Mutation_p.L150R	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	166					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTGCAGACTCTTGGACTATCT	0.378													False	0	False	1:100329978	0	G	100329978	T	G	100329978	3	3	88	1	0	0	0	0	1	0	0	0	384	1609	56	4	580	4	AGL	1	100329978	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174537	100329978	148920643	810	8522											
AGL	178	broad.mit.edu	37	chr1	100349724	100349724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaactattgagagaaacaCgaaaccttataggaaggatg	10	5	0	3	rs147586981		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100349724C>T	ENST00000294724.4	+	18	2835	c.2357C>T	c.(2356-2358)aCg>aTg	p.T786M	AGL_ENST00000370163.3_Missense_Mutation_p.T786M|AGL_ENST00000361915.3_Missense_Mutation_p.T786M|AGL_ENST00000370165.3_Missense_Mutation_p.T786M|AGL_ENST00000361522.4_Missense_Mutation_p.T769M|AGL_ENST00000361302.3_Missense_Mutation_p.T770M|AGL_ENST00000370161.2_Missense_Mutation_p.T770M	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	786					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAGAGAAACACGAAACCTTAT	0.318													False	0	False	1:100349724	0	T	100349724	C	T	100349724	3	4	88	1	0	0	0	0	1	0	0	0	384	536	19	1	2492	1	AGL	1	100349724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19746	100349724	148900897	811	8523											
AGL	178	broad.mit.edu	37	chr1	100356893	100356893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtaaccggcttatttcacGatcaggaactattgctgaag	9	9	2	1	rs147977213	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100356893G>A	ENST00000294724.4	+	22	3408	c.2930G>A	c.(2929-2931)cGa>cAa	p.R977Q	AGL_ENST00000370163.3_Missense_Mutation_p.R977Q|AGL_ENST00000361915.3_Missense_Mutation_p.R977Q|AGL_ENST00000370165.3_Missense_Mutation_p.R977Q|AGL_ENST00000361522.4_Missense_Mutation_p.R960Q|AGL_ENST00000361302.3_Missense_Mutation_p.R961Q|AGL_ENST00000370161.2_Missense_Mutation_p.R961Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	977					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTTATTTCACGATCAGGAACT	0.323													False	0	False	1:100356893	0	A	100356893	G	A	100356893	3	1	88	1	0	0	0	0	1	0	0	0	384	1058	37	1	3081	1	AGL	1	100356893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7169	100356893	148893728	812	8524											
SLC35A3	23443	broad.mit.edu	37	chr1	100464905	100464905	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaacttgctattccatcaggGatctatactcttcagaataa	5	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100464905G>T	ENST00000465289.1	+	3	668	c.276G>T	c.(274-276)ggG>ggT	p.G92G	SLC35A3_ENST00000370153.1_Silent_p.G134G|SLC35A3_ENST00000427993.2_Silent_p.G92G|SLC35A3_ENST00000370155.3_Silent_p.G92G|SLC35A3_ENST00000370156.3_3'UTR	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	92					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTCCATCAGGGATCTATACTC	0.299													False	0	True	1:100464905	0	T	100464905	G	T	100464905	2	4	88	1	0	0	0	0	0	0	0	1	14652	1161	41	3		3	SLC35A3	1	100464905	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108012	100464905	148785716	813	8525											
SLC35A3	23443	broad.mit.edu	37	chr1	100472710	100472710	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaggagttgcttttgtaCaggtaactattcaagataag	10	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100472710C>T	ENST00000465289.1	+	4	855	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	SLC35A3_ENST00000370153.1_Nonsense_Mutation_p.Q197*|SLC35A3_ENST00000427993.2_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000370155.3_Nonsense_Mutation_p.Q155*|SLC35A3_ENST00000370156.3_3'UTR	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	155					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TGCTTTTGTACAGGTAACTAT	0.308													False	0	False	1:100472710	0	T	100472710	C	T	100472710	4	4	88	1	0	0	0	0	0	1	0	0	14652	479	17	2	473	2	SLC35A3	1	100472710	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7805	100472710	148777911	814	8526											
HIAT1	64645	broad.mit.edu	37	chr1	100546193	100546193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacttgggaacaaacacaaGccctcagcaccactttgaac	7	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100546193G>A	ENST00000370152.3	+	11	1380	c.1244G>A	c.(1243-1245)aGc>aAc	p.S415N	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	415					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ACAAACACAAGCCCTCAGCAC	0.408													False	0	True	1:100546193	0	A	100546193	G	A	100546193	3	1	88	1	0	0	0	0	1	0	0	0	7144	971	34	2	1286	2	HIAT1	1	100546193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73483	100546193	148704428	815	8527											
LRRC39	127495	broad.mit.edu	37	chr1	100624921	100624921	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaaaccagttctatgAagttgccattcctgtagttg	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100624921A>C	ENST00000370138.1	-	5	468	c.270T>G	c.(268-270)ctT>ctG	p.L90L	LRRC39_ENST00000370137.1_Silent_p.L90L|LRRC39_ENST00000342895.3_Silent_p.L90L	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	90										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CAGTTCTATGAAGTTGCCATT	0.353													False	0	False	1:100624921	0	C	100624921	A	C	100624921	2	2	88	1	0	0	0	0	0	0	0	1	9057	233	9	4		4	LRRC39	1	100624921	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	78728	100624921	148625700	816	8528											
CDC14A	8556	broad.mit.edu	37	chr1	100963751	100963751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttctttgtcttcgggtgCcactgtaagaaggtaatttt	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100963751C>T	ENST00000336454.3	+	14	1764	c.1409C>T	c.(1408-1410)gCc>gTc	p.A470V	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Missense_Mutation_p.A412V|CDC14A_ENST00000544534.1_Missense_Mutation_p.A470V|CDC14A_ENST00000361544.6_Missense_Mutation_p.A470V	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	470					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTTCGGGTGCCACTGTAAGA	0.468													False	0	False	1:100963751	0	T	100963751	C	T	100963751	3	4	88	1	0	0	0	0	1	0	0	0	3079	739	26	2	1478	2	CDC14A	1	100963751	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338830	100963751	148286870	817	8529											
CDC14A	8556	broad.mit.edu	37	chr1	100964692	100964692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagaagcagcaacagcaaCgggggcaacctgaacagccc	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100964692C>T	ENST00000336454.3	+	15	1984	c.1629C>T	c.(1627-1629)aaC>aaT	p.N543N	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Silent_p.N485N|CDC14A_ENST00000544534.1_Silent_p.N543N|CDC14A_ENST00000361544.6_Silent_p.N543N	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	543					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GCAACAGCAACGGGGGCAACC	0.562													False	0	True	1:100964692	0	T	100964692	C	T	100964692	2	4	88	1	0	0	0	0	0	0	0	1	3079	535	19	1		1	CDC14A	1	100964692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	941	100964692	148285929	818	8530											
VCAM1	7412	broad.mit.edu	37	chr1	101190358	101190358	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaactctcaccttaattgcTatgaggatggaagattctgg	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101190358T>C	ENST00000294728.2	+	4	941	c.840T>C	c.(838-840)gcT>gcC	p.A280A	VCAM1_ENST00000370119.4_Silent_p.A218A|VCAM1_ENST00000347652.2_Silent_p.A280A|VCAM1_ENST00000370115.1_Silent_p.A280A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	280	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CCTTAATTGCTATGAGGATGG	0.393													False	0	False	1:101190358	0	C	101190358	T	C	101190358	2	2	88	1	0	0	0	0	0	0	0	1	17221	1509	53	4		4	VCAM1	1	101190358	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	225666	101190358	148060263	819	8531											
VCAM1	7412	broad.mit.edu	37	chr1	101194700	101194700	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagatctcccctggaccccgGattgctgctcagattggaga	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101194700G>A	ENST00000294728.2	+	5	1067	c.966G>A	c.(964-966)cgG>cgA	p.R322R	VCAM1_ENST00000370119.4_Silent_p.R260R|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	322	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGGACCCCGGATTGCTGCTC	0.448													False	0	False	1:101194700	0	A	101194700	G	A	101194700	2	1	88	1	0	0	0	0	0	0	0	1	17221	1161	41	2		2	VCAM1	1	101194700	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4342	101194700	148055921	820	8532											
EXTL2	2135	broad.mit.edu	37	chr1	101342387	101342387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaaacaaggtctggggtgCtgatgagtgtgtcatcatct	12	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101342387C>A	ENST00000370114.3	-	4	1903	c.467G>T	c.(466-468)aGc>aTc	p.S156I	EXTL2_ENST00000535414.1_Missense_Mutation_p.S143I|EXTL2_ENST00000370113.3_Missense_Mutation_p.S156I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	156					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GTCTGGGGTGCTGATGAGTGT	0.358													False	0	False	1:101342387	0	A	101342387	C	A	101342387	3	1	88	1	0	0	0	0	1	0	0	0	5359	797	28	3	533	3	EXTL2	1	101342387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147687	101342387	147908234	821	8533											
EXTL2	2135	broad.mit.edu	37	chr1	101343202	101343202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtgcagatttggtacaGcctgataatgatttaaaagt	9	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101343202G>T	ENST00000370114.3	-	3	1699	c.263C>A	c.(262-264)gCt>gAt	p.A88D	EXTL2_ENST00000535414.1_Missense_Mutation_p.A75D|EXTL2_ENST00000370113.3_Missense_Mutation_p.A88D	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	88					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		ATTTGGTACAGCCTGATAATG	0.418													False	0	False	1:101343202	0	T	101343202	G	T	101343202	3	4	88	1	0	0	0	0	1	0	0	0	5359	971	34	3	741	3	EXTL2	1	101343202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	815	101343202	147907419	822	8534											
SLC30A7	148867	broad.mit.edu	37	chr1	101377772	101377772	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgttttcaaacatggaggTcatggacattctcatggctc	9	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101377772T>C	ENST00000370112.4	+	5	676	c.489T>C	c.(487-489)ggT>ggC	p.G163G	SLC30A7_ENST00000357650.4_Silent_p.G163G	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	163	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		AACATGGAGGTCATGGACATT	0.378													False	0	False	1:101377772	0	C	101377772	T	C	101377772	2	2	88	1	0	0	0	0	0	0	0	1	14640	1654	58	4		4	SLC30A7	1	101377772	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34570	101377772	147872849	823	8535											
S1PR1	1901	broad.mit.edu	37	chr1	101705127	101705127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgctccaccgtgctgcCgctctaccacaagcactata	7	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101705127C>T	ENST00000305352.6	+	2	962	c.587C>T	c.(586-588)cCg>cTg	p.P196L		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	196					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ACCGTGCTGCCGCTCTACCAC	0.562											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:101705127	0	T	101705127	C	T	101705127	3	4	88	1	0	0	0	0	1	0	0	0	13872	652	23	1	589	1	S1PR1	1	101705127	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	327355	101705127	147545494	824	8536											
COL11A1	1301	broad.mit.edu	37	chr1	103345315	103345315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatttgatcccaggaagCgaagtgctttgtcataactt	8	9	2	1	rs140250347	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103345315C>T	ENST00000358392.2	-	66	5551	c.5234G>A	c.(5233-5235)cGc>cAc	p.R1745H	COL11A1_ENST00000512756.1_Missense_Mutation_p.R1617H|COL11A1_ENST00000370096.3_Missense_Mutation_p.R1733H|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1694H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1733	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.R1745P(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCCAGGAAGCGAAGTGCTTT	0.433													False	0	False	1:103345315	0	T	103345315	C	T	103345315	3	4	88	1	0	0	0	0	1	0	0	0	3690	768	27	1	230	1	COL11A1	1	103345315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1640188	103345315	145905306	825	8537											
COL11A1	1301	broad.mit.edu	37	chr1	103496747	103496747	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggactataatgctcacaGtagtcatatgctgccttggg	10	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103496747G>T	ENST00000358392.2	-	5	1022	c.705C>A	c.(703-705)taC>taA	p.Y235*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Y235*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Y235*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	235	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AATGCTCACAGTAGTCATATG	0.453													False	0	False	1:103496747	0	T	103496747	G	T	103496747	4	4	88	1	0	0	0	0	0	1	0	0	3690	1024	36	3	5124	3	COL11A1	1	103496747	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151432	103496747	145753874	826	8538											
COL11A1	1301	broad.mit.edu	37	chr1	103544316	103544316	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggtgatctcccaacctcaAcaccaatttgctgaatacca	5	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103544316A>C	ENST00000358392.2	-	3	703	c.386T>G	c.(385-387)gTt>gGt	p.V129G	COL11A1_ENST00000512756.1_Missense_Mutation_p.V129G|COL11A1_ENST00000370096.3_Missense_Mutation_p.V129G|COL11A1_ENST00000353414.4_Missense_Mutation_p.V129G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	129	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCAACCTCAACACCAATTTG	0.393													False	0	False	1:103544316	0	C	103544316	A	C	103544316	3	2	88	1	0	0	0	0	1	0	0	0	3690	43	2	4	5451	4	COL11A1	1	103544316	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47569	103544316	145706305	827	8539											
AMY2A	279	broad.mit.edu	37	chr1	104160181	104160181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcgatgggttgatattgCtcttgaatgtgagcgatatt	13	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:104160181C>T	ENST00000414303.2	+	1	183	c.119C>T	c.(118-120)gCt>gTt	p.A40V		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	40					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GTTGATATTGCTCTTGAATGT	0.438													False	0	False	1:104160181	0	T	104160181	C	T	104160181	3	4	88	1	0	0	0	0	1	0	0	0	594	797	28	2	121	2	AMY2A	1	104160181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	615865	104160181	145090440	828	8540											
PRMT6	55170	broad.mit.edu	37	chr1	107599623	107599623	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggcgcgggcaccggcattCtgagcatcttctgtgcccag	14	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:107599623C>A	ENST00000361318.5	+	1	357	c.109C>A	c.(109-111)Ctg>Atg	p.L37M	PRMT6_ENST00000370078.1_Missense_Mutation_p.L96M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	96					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CACCGGCATTCTGAGCATCTT	0.692													False	0	False	1:107599623	0	A	107599623	C	A	107599623	3	1	88	1	0	0	0	0	1	0	0	0	12616	912	32	3	288	3	PRMT6	1	107599623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3439442	107599623	141650998	829	8541											
NTNG1	22854	broad.mit.edu	37	chr1	107973466	107973466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacacaacactagagggcaGcactgtgagttatgcaggct	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:107973466G>A	ENST00000370068.1	+	6	2028	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000542803.1_Silent_p.Q394Q|NTNG1_ENST00000370065.1_Silent_p.Q394Q|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370073.2_Silent_p.Q394Q|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370072.3_Silent_p.Q394Q			Q9Y2I2	NTNG1_HUMAN	netrin G1	394	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTAGAGGGCAGCACTGTGAGT	0.443													False	0	False	1:107973466	0	A	107973466	G	A	107973466	2	1	88	1	0	0	0	0	0	0	0	1	10772	962	34	2		2	NTNG1	1	107973466	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	373843	107973466	141277155	830	8542											
SLC25A24	29957	broad.mit.edu	37	chr1	108742604	108742604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcctggcccagagggaTgcccaggttcctgagcccct	14	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:108742604T>C	ENST00000565488.1	-	1	376	c.157A>G	c.(157-159)Atc>Gtc	p.I53V	RP11-483I13.5_ENST00000564063.1_RNA|SLC25A24_ENST00000569674.1_Missense_Mutation_p.I53V	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	53	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CCCAGAGGGATGCCCAGGTTC	0.721													False	0	False	1:108742604	0	C	108742604	T	C	108742604	3	2	88	1	0	0	0	0	1	0	0	0	14567	1464	51	4	1446	4	SLC25A24	1	108742604	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	769138	108742604	140508017	831	8543											
PRPF38B	55119	broad.mit.edu	37	chr1	109235385	109235385	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaacgagaagaccatgaacCtcaaccccatgatcctgacc	7	15	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109235385C>A	ENST00000370025.4	+	1	441	c.172C>A	c.(172-174)Ctc>Atc	p.L58I	PRPF38B_ENST00000370022.5_Missense_Mutation_p.L58I|PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370021.1_5'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	58					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GACCATGAACCTCAACCCCAT	0.597													False	0	False	1:109235385	0	A	109235385	C	A	109235385	3	1	88	1	0	0	0	0	1	0	0	0	12644	681	24	3	174	3	PRPF38B	1	109235385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	492781	109235385	140015236	832	8544											
PRPF38B	55119	broad.mit.edu	37	chr1	109241798	109241798	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttaggtctccaaggagatCtctgagtccacggaggtccc	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109241798C>A	ENST00000370021.1	+	7	1101	c.464C>A	c.(463-465)tCt>tAt	p.S155Y	PRPF38B_ENST00000370025.4_Missense_Mutation_p.S266Y			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	266					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		CCAAGGAGATCTCTGAGTCCA	0.408													False	0	False	1:109241798	0	A	109241798	C	A	109241798	3	1	88	1	0	0	0	0	1	0	0	0	12644	913	32	3	819	3	PRPF38B	1	109241798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6413	109241798	140008823	833	8545											
PRPF38B	55119	broad.mit.edu	37	chr1	109241961	109241961	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacggcgaagatcccgaagTattgaccgggggttagaacg	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109241961T>C	ENST00000370021.1	+	7	1264	c.627T>C	c.(625-627)agT>agC	p.S209S	PRPF38B_ENST00000370025.4_Silent_p.S320S			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	320					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GATCCCGAAGTATTGACCGGG	0.502													False	0	False	1:109241961	0	C	109241961	T	C	109241961	2	2	88	1	0	0	0	0	0	0	0	1	12644	1635	57	4		4	PRPF38B	1	109241961	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	163	109241961	140008660	834	8546											
AKNAD1	254268	broad.mit.edu	37	chr1	109394773	109394773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatcccttttcgggttgaGttggtcagtgagttctgggg	14	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109394773G>A	ENST00000370001.3	-	2	782	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	AKNAD1_ENST00000369994.1_Missense_Mutation_p.L172F|AKNAD1_ENST00000369995.3_Missense_Mutation_p.L172F|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	172										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTCGGGTTGAGTTGGTCAGTG	0.423													False	0	False	1:109394773	0	A	109394773	G	A	109394773	3	1	88	1	0	0	0	0	1	0	0	0	464	1029	36	2	2056	2	AKNAD1	1	109394773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152812	109394773	139855848	835	8547											
WDR47	22911	broad.mit.edu	37	chr1	109533934	109533934	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagaggtggcttaatgAccgaatgttctgaagagctg	12	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109533934A>G	ENST00000357672.3	-	8	2000	c.1625T>C	c.(1624-1626)gTc>gCc	p.V542A	WDR47_ENST00000400794.3_Missense_Mutation_p.V578A|WDR47_ENST00000369965.4_Missense_Mutation_p.V571A|WDR47_ENST00000361054.3_Missense_Mutation_p.V542A|WDR47_ENST00000369962.3_Missense_Mutation_p.V570A			O94967	WDR47_HUMAN	WD repeat domain 47	570										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGGCTTAATGACCGAATGTTC	0.368													False	0	False	1:109533934	0	G	109533934	A	G	109533934	3	3	88	1	0	0	0	0	1	0	0	0	17384	275	10	4	1078	4	WDR47	1	109533934	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	139161	109533934	139716687	836	8548											
WDR47	22911	broad.mit.edu	37	chr1	109547290	109547290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgaaactgaactctggCccaagatttcactgccgata	7	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109547290C>T	ENST00000357672.3	-	5	1469	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	WDR47_ENST00000400794.3_Missense_Mutation_p.G401D|WDR47_ENST00000369965.4_Missense_Mutation_p.G394D|WDR47_ENST00000361054.3_Missense_Mutation_p.G365D|WDR47_ENST00000369962.3_Missense_Mutation_p.G393D			O94967	WDR47_HUMAN	WD repeat domain 47	393										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGAACTCTGGCCCAAGATTTC	0.423													False	0	True	1:109547290	0	T	109547290	C	T	109547290	3	4	88	1	0	0	0	0	1	0	0	0	17384	739	26	2	1621	2	WDR47	1	109547290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13356	109547290	139703331	837	8549											
WDR47	22911	broad.mit.edu	37	chr1	109554167	109554167	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaaccatgacacaagcCtcttcaaaacagtgaactcg	6	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109554167C>A	ENST00000357672.3	-	4	792	c.417G>T	c.(415-417)gaG>gaT	p.E139D	WDR47_ENST00000400794.3_Missense_Mutation_p.E174D|WDR47_ENST00000369965.4_Missense_Mutation_p.E167D|WDR47_ENST00000361054.3_Missense_Mutation_p.E139D|WDR47_ENST00000369962.3_Missense_Mutation_p.E167D			O94967	WDR47_HUMAN	WD repeat domain 47	167										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGACACAAGCCTCTTCAAAAC	0.433													False	0	False	1:109554167	0	A	109554167	C	A	109554167	3	1	88	1	0	0	0	0	1	0	0	0	17384	680	24	3	2305	3	WDR47	1	109554167	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6877	109554167	139696454	838	8550											
KIAA1324	57535	broad.mit.edu	37	chr1	109714519	109714519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccccggggcgactacatcGcctccaacacggacgaatgc	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109714519G>A	ENST00000369939.3	+	4	682	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	KIAA1324_ENST00000529753.1_Missense_Mutation_p.A167T	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	167					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGACTACATCGCCTCCAACAC	0.557													False	0	False	1:109714519	0	A	109714519	G	A	109714519	3	1	88	1	0	0	0	0	1	0	0	0	8273	1087	38	1	513	1	KIAA1324	1	109714519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160352	109714519	139536102	839	8551											
CELSR2	1952	broad.mit.edu	37	chr1	109793139	109793139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccacggctcagatgccaGtcctgcaagctggcacaggc	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109793139G>A	ENST00000271332.3	+	1	499	c.438G>A	c.(436-438)caG>caA	p.Q146Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	146					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCAGATGCCAGTCCTGCAAGC	0.637													False	0	False	1:109793139	0	A	109793139	G	A	109793139	2	1	88	1	0	0	0	0	0	0	0	1	3245	1020	36	2		2	CELSR2	1	109793139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78620	109793139	139457482	840	8552											
CELSR2	1952	broad.mit.edu	37	chr1	109794810	109794810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattgtggtgaatgtcacCgacgccaacacccatcgtcc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109794810C>T	ENST00000271332.3	+	1	2170	c.2109C>T	c.(2107-2109)acC>acT	p.T703T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	703	Cadherin 5.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGAATGTCACCGACGCCAACA	0.577													False	0	False	1:109794810	0	T	109794810	C	T	109794810	2	4	88	1	0	0	0	0	0	0	0	1	3245	639	23	1		1	CELSR2	1	109794810	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1671	109794810	139455811	841	8553											
CELSR2	1952	broad.mit.edu	37	chr1	109795960	109795960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagctgaagctaagccgcGcactggacaacaaccggcct	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109795960G>A	ENST00000271332.3	+	1	3320	c.3259G>A	c.(3259-3261)Gca>Aca	p.A1087T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1087	Cadherin 9.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTAAGCCGCGCACTGGACAA	0.602													False	0	False	1:109795960	0	A	109795960	G	A	109795960	3	1	88	1	0	0	0	0	1	0	0	0	3245	1087	38	1	3261	1	CELSR2	1	109795960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1150	109795960	139454661	842	8554											
CELSR2	1952	broad.mit.edu	37	chr1	109808459	109808459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accctgaggatggccagtgtCcatgcaagccaggtgtcatc	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109808459C>T	ENST00000271332.3	+	14	5891	c.5830C>T	c.(5830-5832)Cca>Tca	p.P1944S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1944	Laminin EGF-like.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGGCCAGTGTCCATGCAAGCC	0.617													False	0	False	1:109808459	0	T	109808459	C	T	109808459	3	4	88	1	0	0	0	0	1	0	0	0	3245	855	30	2	5884	2	CELSR2	1	109808459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12499	109808459	139442162	843	8555											
CELSR2	1952	broad.mit.edu	37	chr1	109811248	109811248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggacacagccaacaagCggcactgggagctgatccag	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109811248C>T	ENST00000271332.3	+	18	6425	c.6364C>T	c.(6364-6366)Cgg>Tgg	p.R2122W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2122					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGCCAACAAGCGGCACTGGGA	0.652													False	0	False	1:109811248	0	T	109811248	C	T	109811248	3	4	88	1	0	0	0	0	1	0	0	0	3245	759	27	1	6434	1	CELSR2	1	109811248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2789	109811248	139439373	844	8556											
CELSR2	1952	broad.mit.edu	37	chr1	109811858	109811858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcgtcatcatctaccGcaccctggccgggctactgc	11	17	3	0	rs150344250		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109811858G>A	ENST00000271332.3	+	20	6819	c.6758G>A	c.(6757-6759)cGc>cAc	p.R2253H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2253					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCATCTACCGCACCCTGGCC	0.672													False	0	False	1:109811858	0	A	109811858	G	A	109811858	3	1	88	1	0	0	0	0	1	0	0	0	3245	1087	38	1	6836	1	CELSR2	1	109811858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	610	109811858	139438763	845	8557											
CELSR2	1952	broad.mit.edu	37	chr1	109815515	109815515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaccagagtggctcctatgCctctacccactcatcagaca	7	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109815515C>T	ENST00000271332.3	+	31	8265	c.8204C>T	c.(8203-8205)gCc>gTc	p.A2735V	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2735					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGCTCCTATGCCTCTACCCAC	0.607													False	0	False	1:109815515	0	T	109815515	C	T	109815515	3	4	88	1	0	0	0	0	1	0	0	0	3245	739	26	2	8326	2	CELSR2	1	109815515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3657	109815515	139435106	846	8558											
SORT1	6272	broad.mit.edu	37	chr1	109859483	109859483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaacatacctgtttttccgGactcaaaaagttgcttgtgc	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109859483G>A	ENST00000256637.6	-	17	2297	c.2239C>T	c.(2239-2241)Ccg>Tcg	p.P747S	SORT1_ENST00000538502.1_Missense_Mutation_p.P610S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	747	Interactions with LRPAP1 and NGFB.				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGTTTTTCCGGACTCAAAAAG	0.373													False	0	False	1:109859483	0	A	109859483	G	A	109859483	3	1	88	1	0	0	0	0	1	0	0	0	15015	1174	41	2	272	2	SORT1	1	109859483	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43968	109859483	139391138	847	8559											
PSMA5	5686	broad.mit.edu	37	chr1	109954798	109954798	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtctcattgtaggtgaaCcagtggttctagaagaagag	12	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109954798C>T	ENST00000271308.4	-	5	320	c.300G>A	c.(298-300)tgG>tgA	p.W100*	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Nonsense_Mutation_p.W42*	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	100					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		TGTAGGTGAACCAGTGGTTCT	0.468													False	0	False	1:109954798	0	T	109954798	C	T	109954798	4	4	88	1	0	0	0	0	0	1	0	0	12746	508	18	2	445	2	PSMA5	1	109954798	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95315	109954798	139295823	848	8560											
ATXN7L2	127002	broad.mit.edu	37	chr1	110031538	110031538	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgacgtgctggtggcagagCtgaaggccaactcccgcaaa	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110031538C>A	ENST00000369870.3	+	7	868	c.853C>A	c.(853-855)Ctg>Atg	p.L285M		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	285	SCA7.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGTGGCAGAGCTGAAGGCCAA	0.627													False	0	False	1:110031538	0	A	110031538	C	A	110031538	3	1	88	1	0	0	0	0	1	0	0	0	1221	796	28	3	879	3	ATXN7L2	1	110031538	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76740	110031538	139219083	849	8561											
AMIGO1	57463	broad.mit.edu	37	chr1	110051532	110051532	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggtcacggtgggggtgCatagtgtcactggagtgggc	19	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110051532C>T	ENST00000369864.4	-	2	352	c.3G>A	c.(1-3)atG>atA	p.M1I	AMIGO1_ENST00000369862.1_Start_Codon_SNP_p.M1I			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	1					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GGTGGGGGTGCATAGTGTCAC	0.617													False	0	False	1:110051532	0	T	110051532	C	T	110051532	1	4	88	1	0	0	0	0	0	0	0	0	575	710	25	2		2	AMIGO1	1	110051532	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19994	110051532	139199089	850	8562											
GPR61	0	broad.mit.edu	37	chr1	110085846	110085846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgtgatggccgtgatcGccaagacgcctgccctccga	12	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110085846G>A	ENST00000527748.1	+	2	885	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	68						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCCGTGATCGCCAAGACGCC	0.607													False	0	False	1:110085846	0	A	110085846	G	A	110085846	3	1	88	1	0	0	0	0	1	0	0	0	6748	1087	38	1	204	1	GPR61	1	110085846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34314	110085846	139164775	851	8563											
GNAI3	2773	broad.mit.edu	37	chr1	110116530	110116530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaaagaatcattcatgaGgatggctattcagaggatga	10	4	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110116530G>A	ENST00000369851.4	+	3	284	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	58					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TCATTCATGAGGATGGCTATT	0.348													False	0	False	1:110116530	0	A	110116530	G	A	110116530	2	1	88	1	0	0	0	0	0	0	0	1	6551	991	35	2		2	GNAI3	1	110116530	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30684	110116530	139134091	852	8564											
GSTM2	2946	broad.mit.edu	37	chr1	110211562	110211562	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacagctcctgattatgacaGaagccagtggctgaatgaaa	10	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110211562G>A	ENST00000369831.2	+	3	222	c.128G>A	c.(127-129)aGa>aAa	p.R43K	GSTM2_ENST00000369829.2_Missense_Mutation_p.R43K|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000369827.3_Missense_Mutation_p.R41K|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000460717.3_Missense_Mutation_p.R43K|GSTM2_ENST00000241337.4_Missense_Mutation_p.R43K|GSTM2_ENST00000442650.1_Missense_Mutation_p.R43K					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		GATTATGACAGAAGCCAGTGG	0.552													False	0	False	1:110211562	0	A	110211562	G	A	110211562	3	1	88	1	0	0	0	0	1	0	0	0	6885	942	33	2	138	2	GSTM2	1	110211562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95032	110211562	139039059	853	8565											
EPS8L3	79574	broad.mit.edu	37	chr1	110294717	110294717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgggcaggtttggggCtggagggcctggagttgggg	23	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110294717C>T	ENST00000369805.3	-	15	1566	c.1337G>A	c.(1336-1338)aGc>aAc	p.S446N	EPS8L3_ENST00000361852.4_Missense_Mutation_p.S415N|EPS8L3_ENST00000361965.4_Missense_Mutation_p.S445N|RP4-735C1.4_ENST00000431955.1_RNA	NM_139053.2	NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	445						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGTTTGGGGCTGGAGGGCCT	0.577													False	0	True	1:110294717	0	T	110294717	C	T	110294717	3	4	88	1	0	0	0	0	1	0	0	0	5229	797	28	2	467	2	EPS8L3	1	110294717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83155	110294717	138955904	854	8566											
CSF1	1435	broad.mit.edu	37	chr1	110466000	110466000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcagtgccaagcagcggCcacccaggagcacctgccag	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110466000C>T	ENST00000329608.6	+	6	1148	c.757C>T	c.(757-759)Cca>Tca	p.P253S	CSF1_ENST00000369802.3_Missense_Mutation_p.P253S|CSF1_ENST00000369801.1_Missense_Mutation_p.P253S|CSF1_ENST00000344188.5_Missense_Mutation_p.P253S|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	253					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAAGCAGCGGCCACCCAGGAG	0.652											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:110466000	0	T	110466000	C	T	110466000	3	4	88	1	0	0	0	0	1	0	0	0	3956	739	26	2	779	2	CSF1	1	110466000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171283	110466000	138784621	855	8567											
AHCYL1	10768	broad.mit.edu	37	chr1	110555585	110555585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgtaacatctactcaActcagaatgaagtagctgca	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110555585A>C	ENST00000369799.5	+	5	911	c.544A>C	c.(544-546)Act>Cct	p.T182P	AHCYL1_ENST00000393614.4_Missense_Mutation_p.T135P|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000359172.3_Missense_Mutation_p.T135P	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	182					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CATCTACTCAACTCAGAATGA	0.473													False	0	True	1:110555585	0	C	110555585	A	C	110555585	3	2	88	1	0	0	0	0	1	0	0	0	410	43	2	4	562	4	AHCYL1	1	110555585	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	89585	110555585	138695036	856	8568											
SLC6A17	388662	broad.mit.edu	37	chr1	110716645	110716645	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgatcatcgggtggagcatCttctatttcttcaagtcctt	9	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110716645C>A	ENST00000331565.4	+	4	980	c.495C>A	c.(493-495)atC>atA	p.I165I		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	165					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGTGGAGCATCTTCTATTTCT	0.572													False	0	False	1:110716645	0	A	110716645	C	A	110716645	2	1	88	1	0	0	0	0	0	0	0	1	14760	903	32	3		3	SLC6A17	1	110716645	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161060	110716645	138533976	857	8569											
SLC6A17	388662	broad.mit.edu	37	chr1	110719341	110719341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggcagttgatggcatcCtacacatgttcactcccaag	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110719341C>T	ENST00000331565.4	+	6	1329	c.844C>T	c.(844-846)Cta>Tta	p.L282L		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	282					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGATGGCATCCTACACATGTT	0.572													False	0	False	1:110719341	0	T	110719341	C	T	110719341	2	4	88	1	0	0	0	0	0	0	0	1	14760	680	24	2		2	SLC6A17	1	110719341	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2696	110719341	138531280	858	8570											
SLC6A17	388662	broad.mit.edu	37	chr1	110738297	110738297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgttcgatgactactcgGccaccctgccactcactctc	6	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110738297G>A	ENST00000331565.4	+	10	2067	c.1582G>A	c.(1582-1584)Gcc>Acc	p.A528T		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	528					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGACTACTCGGCCACCCTGCC	0.532													False	0	False	1:110738297	0	A	110738297	G	A	110738297	3	1	88	1	0	0	0	0	1	0	0	0	14760	1203	42	2	1616	2	SLC6A17	1	110738297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18956	110738297	138512324	859	8571											
SLC6A17	388662	broad.mit.edu	37	chr1	110741029	110741029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatggacgctatgggagcgGctacctgctggccagcaccc	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110741029G>A	ENST00000331565.4	+	12	2632	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	716					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TATGGGAGCGGCTACCTGCTG	0.672													False	0	False	1:110741029	0	A	110741029	G	A	110741029	3	1	88	1	0	0	0	0	1	0	0	0	14760	1203	42	2	2189	2	SLC6A17	1	110741029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2732	110741029	138509592	860	8572											
KCNC4	3749	broad.mit.edu	37	chr1	110766034	110766034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggccacaccctgagggCcagcaccaatgagttcctgc	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110766034C>T	ENST00000369787.3	+	2	1154	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	KCNC4_ENST00000413138.3_Missense_Mutation_p.A376V|KCNC4_ENST00000438661.2_Missense_Mutation_p.A376V|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	376					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACCCTGAGGGCCAGCACCAAT	0.617													False	0	True	1:110766034	0	T	110766034	C	T	110766034	3	4	88	1	0	0	0	0	1	0	0	0	8067	739	26	2	1133	2	KCNC4	1	110766034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25005	110766034	138484587	861	8573											
KCNC4	3749	broad.mit.edu	37	chr1	110766507	110766507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgggaagagggtatgatcGagaggaaacgggcaggtgag	19	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110766507G>A	ENST00000369787.3	+	2	1627	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	KCNC4_ENST00000413138.3_Missense_Mutation_p.E534K|KCNC4_ENST00000438661.2_Missense_Mutation_p.E534K|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	534					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGTATGATCGAGAGGAAACG	0.577													False	0	False	1:110766507	0	A	110766507	G	A	110766507	3	1	88	1	0	0	0	0	1	0	0	0	8067	1059	37	1	1606	1	KCNC4	1	110766507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	473	110766507	138484114	862	8574											
RBM15	64783	broad.mit.edu	37	chr1	110882330	110882330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcggagtctccacctggaCaagtccagcagtcgaggtgg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110882330C>T	ENST00000369784.3	+	1	1203	c.303C>T	c.(301-303)gaC>gaT	p.D101D	RBM15_ENST00000487146.2_Silent_p.D101D|RBM15_ENST00000602849.1_Silent_p.D101D	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	101	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCCACCTGGACAAGTCCAGCA	0.607			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:110882330	0	T	110882330	C	T	110882330	2	4	88	1	0	0	0	0	0	0	0	1	13195	477	17	2		2	RBM15	1	110882330	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115823	110882330	138368291	863	8575											
RBM15	64783	broad.mit.edu	37	chr1	110882581	110882581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccagcttagtgacgaagCggtggaggacggcctgtttc	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110882581C>T	ENST00000369784.3	+	1	1454	c.554C>T	c.(553-555)gCg>gTg	p.A185V	RBM15_ENST00000487146.2_Missense_Mutation_p.A185V|RBM15_ENST00000602849.1_Missense_Mutation_p.A185V	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	185	RRM 1.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTGACGAAGCGGTGGAGGAC	0.597			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:110882581	0	T	110882581	C	T	110882581	3	4	88	1	0	0	0	0	1	0	0	0	13195	768	27	1	556	1	RBM15	1	110882581	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251	110882581	138368040	864	8576											
RBM15	64783	broad.mit.edu	37	chr1	110884176	110884176	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagagccagggtgacaagCgagaccgtaaaaactctgca	12	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110884176C>T	ENST00000369784.3	+	1	3049	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*	RBM15_ENST00000487146.2_Nonsense_Mutation_p.R717*|RBM15_ENST00000602849.1_Nonsense_Mutation_p.R717*	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	717	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGTGACAAGCGAGACCGTAA	0.502			T	MKL1	acute megakaryocytic leukemia								False	0	False	1:110884176	0	T	110884176	C	T	110884176	4	4	88	1	0	0	0	0	0	1	0	0	13195	760	27	1	2151	1	RBM15	1	110884176	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1595	110884176	138366445	865	8577											
KCNA10	3744	broad.mit.edu	37	chr1	111060647	111060647	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactgtcttgctcatgttgaGattggggtctctgaccacct	11	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060647G>T	ENST00000369771.2	-	1	1150	c.763C>A	c.(763-765)Ctc>Atc	p.L255I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	255						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTCATGTTGAGATTGGGGTCT	0.542													False	0	False	1:111060647	0	T	111060647	G	T	111060647	3	4	88	1	0	0	0	0	1	0	0	0	8052	942	33	3	776	3	KCNA10	1	111060647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176471	111060647	138189974	866	8578											
KCNA10	3744	broad.mit.edu	37	chr1	111060769	111060769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggccacagcacgggcaGcgctggaactttcagggtac	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060769G>A	ENST00000369771.2	-	1	1028	c.641C>T	c.(640-642)gCt>gTt	p.A214V		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	214						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGCACGGGCAGCGCTGGAACT	0.552													False	0	False	1:111060769	0	A	111060769	G	A	111060769	3	1	88	1	0	0	0	0	1	0	0	0	8052	971	34	2	898	2	KCNA10	1	111060769	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122	111060769	138189852	867	8579											
KCNA10	3744	broad.mit.edu	37	chr1	111060913	111060913	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacccagctcatagaaggagAtttcatcagcaaagatatca	7	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060913A>C	ENST00000369771.2	-	1	884	c.497T>G	c.(496-498)aTc>aGc	p.I166S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	166						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		ATAGAAGGAGATTTCATCAGC	0.488													False	0	True	1:111060913	0	C	111060913	A	C	111060913	3	2	88	1	0	0	0	0	1	0	0	0	8052	333	12	4	1042	4	KCNA10	1	111060913	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	144	111060913	138189708	868	8580											
KCNA3	3738	broad.mit.edu	37	chr1	111216054	111216054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcacagagagatcccaCaatcttgccccctatggtca	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111216054C>T	ENST00000369769.2	-	1	1601	c.1378G>A	c.(1378-1380)Gtg>Atg	p.V460M		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	460						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGATCCCACAATCTTGCCC	0.537													False	0	False	1:111216054	0	T	111216054	C	T	111216054	3	4	88	1	0	0	0	0	1	0	0	0	8054	478	17	2	353	2	KCNA3	1	111216054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155141	111216054	138034567	869	8581											
KCNA3	3738	broad.mit.edu	37	chr1	111216303	111216303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccttggagtggcgcgacaGcttgaagatgcggaagaccc	14	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111216303G>A	ENST00000369769.2	-	1	1352	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	377						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGCGCGACAGCTTGAAGATG	0.597													False	0	False	1:111216303	0	A	111216303	G	A	111216303	2	1	88	1	0	0	0	0	0	0	0	1	8054	962	34	2		2	KCNA3	1	111216303	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249	111216303	138034318	870	8582											
CEPT1	10390	broad.mit.edu	37	chr1	111690517	111690517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatatcaaagtgctggaCggtccctgcttgagccctta	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111690517C>T	ENST00000545121.1	+	2	389	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	CEPT1_ENST00000357172.4_Missense_Mutation_p.R61W	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	61						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	AAGTGCTGGACGGTCCCTGCT	0.448													False	0	False	1:111690517	0	T	111690517	C	T	111690517	3	4	88	1	0	0	0	0	1	0	0	0	3287	527	19	1	183	1	CEPT1	1	111690517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	474214	111690517	137560104	871	8583											
DENND2D	79961	broad.mit.edu	37	chr1	111738639	111738639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaacgggtagatgacagCcatggagatctgatgtctct	12	8	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111738639C>T	ENST00000357640.4	-	6	773	c.544G>A	c.(544-546)Gct>Act	p.A182T	DENND2D_ENST00000369752.5_Missense_Mutation_p.A179T|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	182	DENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TAGATGACAGCCATGGAGATC	0.567													False	0	False	1:111738639	0	T	111738639	C	T	111738639	3	4	88	1	0	0	0	0	1	0	0	0	4461	739	26	2	899	2	DENND2D	1	111738639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48122	111738639	137511982	872	8584											
OVGP1	5016	broad.mit.edu	37	chr1	111966237	111966237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggatataagaagaaaagGtcaagaccatcaaagtcatg	9	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111966237G>A	ENST00000369732.3	-	5	466	c.411C>T	c.(409-411)gaC>gaT	p.D137D	OVGP1_ENST00000540696.1_Silent_p.D77D	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	137					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AGAAGAAAAGGTCAAGACCAT	0.433													False	0	False	1:111966237	0	A	111966237	G	A	111966237	2	1	88	1	0	0	0	0	0	0	0	1	11393	1252	44	2		2	OVGP1	1	111966237	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227598	111966237	137284384	873	8585											
WDR77	79084	broad.mit.edu	37	chr1	111984012	111984012	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggcttggcttctaaacCtagaagaaagaaaaaaagtc	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111984012C>T	ENST00000235090.5	-	10	1076		c.e10-1		WDR77_ENST00000497278.1_Splice_Site|WDR77_ENST00000411751.2_Splice_Site	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77						ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTTCTAAACCTAGAAGAAAG	0.498													False	0	False	1:111984012	0	T	111984012	C	T	111984012	5	4	88	1	0	0	0	0	0	0	1	0	17411	695	24	2	163	2	WDR77	1	111984012	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17775	111984012	137266609	874	8586											
ATP5F1	515	broad.mit.edu	37	chr1	111999344	111999344	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcacaacaggcactggtTcagaagcgccattacctttt	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111999344T>G	ENST00000369722.3	+	5	1086	c.480T>G	c.(478-480)gtT>gtG	p.V160V	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Silent_p.V99V	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	160					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGCACTGGTTCAGAAGCGCC	0.403													False	0	False	1:111999344	0	G	111999344	T	G	111999344	2	3	88	1	0	0	0	0	0	0	0	1	1156	1770	62	4		4	ATP5F1	1	111999344	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15332	111999344	137251277	875	8587											
C1orf162	128346	broad.mit.edu	37	chr1	112020639	112020639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggggaatcacttacctatgCcagcacaactttcaaactct	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112020639C>A	ENST00000343534.5	+	6	612	c.362C>A	c.(361-363)gCc>gAc	p.A121D	C1orf162_ENST00000369718.3_Missense_Mutation_p.A96D|C1orf162_ENST00000464591.1_3'UTR	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	121						integral to membrane		p.A121V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTTACCTATGCCAGCACAACT	0.443													False	0	False	1:112020639	0	A	112020639	C	A	112020639	3	1	88	1	0	0	0	0	1	0	0	0	2025	739	26	3	380	3	C1orf162	1	112020639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21295	112020639	137229982	876	8588											
ADORA3	140	broad.mit.edu	37	chr1	112045922	112045922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagagtccaatgaaaatttCcatggtgatgtaggtaacat	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112045922C>T	ENST00000241356.4	-	1	460	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	ADORA3_ENST00000369716.4_Missense_Mutation_p.E19K|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	19					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATGAAAATTTCCATGGTGATG	0.532													False	0	True	1:112045922	0	T	112045922	C	T	112045922	3	4	88	1	0	0	0	0	1	0	0	0	329	864	30	2	1623	2	ADORA3	1	112045922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25283	112045922	137204699	877	8589											
DDX20	11218	broad.mit.edu	37	chr1	112309448	112309448	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atattattggaatgctcagaGacatccaagttggatggcag	11	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112309448G>A	ENST00000475700.1	+	3	3584	c.1226G>A	c.(1225-1227)aGa>aAa	p.R409K	DDX20_ENST00000369702.4_Missense_Mutation_p.R801K			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	801	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGCTCAGAGACATCCAAGT	0.403													False	0	False	1:112309448	0	A	112309448	G	A	112309448	3	1	88	1	0	0	0	0	1	0	0	0	4373	942	33	2	2444	2	DDX20	1	112309448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263526	112309448	136941173	878	8590											
KCND3	3752	broad.mit.edu	37	chr1	112524699	112524699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgagtagcgctccccgcacGgcagctccttgctgcccggg	13	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112524699G>T	ENST00000369697.1	-	1	719	c.650C>A	c.(649-651)cCg>cAg	p.P217Q	KCND3_ENST00000315987.2_Missense_Mutation_p.P217Q|KCND3_ENST00000302127.4_Missense_Mutation_p.P217Q			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	217						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTCCCCGCACGGCAGCTCCTT	0.642													False	0	False	1:112524699	0	T	112524699	G	T	112524699	3	4	88	1	0	0	0	0	1	0	0	0	8070	1116	39	3	1345	3	KCND3	1	112524699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215251	112524699	136725922	879	8591											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112998846	112998846	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagttatcagagtttgacatCgaaagggaacaactgagagc	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112998846C>T	ENST00000271277.6	+	6	957	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	244						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTTGACATCGAAAGGGAAC	0.463													False	0	False	1:112998846	0	T	112998846	C	T	112998846	2	4	88	1	0	0	0	0	0	0	0	1	4071	874	31	1		1	CTTNBP2NL	1	112998846	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	474147	112998846	136251775	880	8592											
WNT2B	7482	broad.mit.edu	37	chr1	113059749	113059749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccctcccccaggctgtgCggcggtttctgaagctggag	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113059749C>T	ENST00000369686.5	+	5	735	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	WNT2B_ENST00000369684.4_Missense_Mutation_p.R230W|WNT2B_ENST00000256640.5_Missense_Mutation_p.R138W	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B						chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGGCTGTGCGGCGGTTTCT	0.562													False	0	False	1:113059749	0	T	113059749	C	T	113059749	3	4	88	1	0	0	0	0	1	0	0	0	17471	759	27	1	835	1	WNT2B	1	113059749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60903	113059749	136190872	881	8593											
WNT2B	7482	broad.mit.edu	37	chr1	113059807	113059807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggttcctgtactctgcGcacctgctggcgtgcactct	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113059807G>A	ENST00000369686.5	+	5	793	c.689G>A	c.(688-690)cGc>cAc	p.R230H	WNT2B_ENST00000369684.4_Missense_Mutation_p.R249H|WNT2B_ENST00000256640.5_Missense_Mutation_p.R157H	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B						chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTCTGCGCACCTGCTGG	0.607													False	0	False	1:113059807	0	A	113059807	G	A	113059807	3	1	88	1	0	0	0	0	1	0	0	0	17471	1087	38	1	893	1	WNT2B	1	113059807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	113059807	136190814	882	8594											
ST7L	54879	broad.mit.edu	37	chr1	113098550	113098550	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tattcgtttccagtgctgaaGatgaaagaaagcataggcaa	10	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113098550G>T	ENST00000358039.4	-	12	1640	c.1336C>A	c.(1336-1338)Ctt>Att	p.L446I	ST7L_ENST00000369669.1_Missense_Mutation_p.L263I|ST7L_ENST00000369666.1_Missense_Mutation_p.L429I|ST7L_ENST00000490067.1_Missense_Mutation_p.L429I|ST7L_ENST00000538187.1_Missense_Mutation_p.L390I|ST7L_ENST00000360743.4_Missense_Mutation_p.L446I|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000544629.1_Missense_Mutation_p.L381I|ST7L_ENST00000543570.1_Intron|ST7L_ENST00000343210.7_Missense_Mutation_p.L446I|ST7L_ENST00000369668.2_Missense_Mutation_p.L446I	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	446					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTGCTGAAGATGAAAGAAA	0.363													False	0	False	1:113098550	0	T	113098550	G	T	113098550	3	4	88	1	0	0	0	0	1	0	0	0	15312	942	33	3	446	3	ST7L	1	113098550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38743	113098550	136152071	883	8595											
MOV10	4343	broad.mit.edu	37	chr1	113232719	113232719	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggagagagacctgacCggtaactcctccctccaact	10	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113232719C>T	ENST00000369644.1	+	6	1696	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	MOV10_ENST00000369645.1_Splice_Site_p.R279C|MOV10_ENST00000413052.2_Splice_Site_p.R279C|MOV10_ENST00000357443.2_Splice_Site_p.R279C|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	279					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GAGACCTGACCGGTAACTCCT	0.597													False	0	False	1:113232719	0	T	113232719	C	T	113232719	5	4	88	1	0	0	0	0	0	0	1	0	9785	666	23	1	849	1	MOV10	1	113232719	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134169	113232719	136017902	884	8596											
MOV10	4343	broad.mit.edu	37	chr1	113238174	113238174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccagcagggacatccGcatggtacctgaggacatca	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113238174G>A	ENST00000369644.1	+	12	2618	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	MOV10_ENST00000369645.1_Missense_Mutation_p.R586H|MOV10_ENST00000413052.2_Missense_Mutation_p.R586H|MOV10_ENST00000357443.2_Missense_Mutation_p.R586H|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	586					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	p.R586L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AGGGACATCCGCATGGTACCT	0.602													False	0	False	1:113238174	0	A	113238174	G	A	113238174	3	1	88	1	0	0	0	0	1	0	0	0	9785	1087	38	1	1795	1	MOV10	1	113238174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5455	113238174	136012447	885	8597											
MOV10	4343	broad.mit.edu	37	chr1	113239108	113239108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcacacacatcttcatcGatgaggctggccactgcatg	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113239108G>A	ENST00000369644.1	+	14	2794	c.1765G>A	c.(1765-1767)Gat>Aat	p.D589N	MOV10_ENST00000369645.1_Missense_Mutation_p.D645N|MOV10_ENST00000413052.2_Missense_Mutation_p.D645N|MOV10_ENST00000357443.2_Missense_Mutation_p.D645N|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	645					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CATCTTCATCGATGAGGCTGG	0.572													False	0	False	1:113239108	0	A	113239108	G	A	113239108	3	1	88	1	0	0	0	0	1	0	0	0	9785	1058	37	1	1979	1	MOV10	1	113239108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	934	113239108	136011513	886	8598											
MOV10	4343	broad.mit.edu	37	chr1	113242307	113242307	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctctttccccactagGtgggttcagtagaagaattc	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242307G>A	ENST00000369644.1	+	19	3445	c.2416G>A	c.(2416-2418)Gtg>Atg	p.V806M	MOV10_ENST00000369645.1_Splice_Site_p.V862M|MOV10_ENST00000413052.2_Splice_Site_p.V862M|MOV10_ENST00000357443.2_Splice_Site_p.V862M|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	862					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	p.V862L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCCCACTAGGTGGGTTCAGT	0.567													False	0	False	1:113242307	0	A	113242307	G	A	113242307	5	1	88	1	0	0	0	0	0	0	1	0	9785	1275	44	2	2650	2	MOV10	1	113242307	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3199	113242307	136008314	887	8599											
MOV10	4343	broad.mit.edu	37	chr1	113242367	113242367	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctcatctccaccgtgCgaagcagccagagctttgtg	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242367C>T	ENST00000369644.1	+	19	3505	c.2476C>T	c.(2476-2478)Cga>Tga	p.R826*	MOV10_ENST00000369645.1_Nonsense_Mutation_p.R882*|MOV10_ENST00000413052.2_Nonsense_Mutation_p.R882*|MOV10_ENST00000357443.2_Nonsense_Mutation_p.R882*|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	882					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTCCACCGTGCGAAGCAGCCA	0.552													False	0	False	1:113242367	0	T	113242367	C	T	113242367	4	4	88	1	0	0	0	0	0	1	0	0	9785	760	27	1	2710	1	MOV10	1	113242367	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	113242367	136008254	888	8600											
MOV10	4343	broad.mit.edu	37	chr1	113243054	113243054	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagggccccacagccatgaCtacctcccccaggagcggga	11	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113243054C>A	ENST00000369644.1	+	22	3798	c.2769C>A	c.(2767-2769)gaC>gaA	p.D923E	MOV10_ENST00000369645.1_Missense_Mutation_p.D979E|MOV10_ENST00000413052.2_Missense_Mutation_p.D979E|MOV10_ENST00000357443.2_Missense_Mutation_p.D979E|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	979					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ACAGCCATGACTACCTCCCCC	0.602													False	0	False	1:113243054	0	A	113243054	C	A	113243054	3	1	88	1	0	0	0	0	1	0	0	0	9785	564	20	3	3015	3	MOV10	1	113243054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	687	113243054	136007567	889	8601											
SLC16A1	6566	broad.mit.edu	37	chr1	113471841	113471841	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaaatgcataagagaagccGatggaaatgaaagctccaat	11	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113471841G>A	ENST00000538576.1	-	2	921	c.90C>T	c.(88-90)atC>atT	p.I30I	SLC16A1_ENST00000369626.3_Silent_p.I30I|SLC16A1_ENST00000433570.4_Silent_p.I30I|SLC16A1_ENST00000478835.1_5'UTR	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	30					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AAGAGAAGCCGATGGAAATGA	0.478													False	0	False	1:113471841	0	A	113471841	G	A	113471841	2	1	88	1	0	0	0	0	0	0	0	1	14483	1048	37	1		1	SLC16A1	1	113471841	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228787	113471841	135778780	890	8602											
LRIG2	9860	broad.mit.edu	37	chr1	113655143	113655143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaatggatctgactattcGcactggtgccatggccagat	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113655143G>A	ENST00000361127.5	+	14	2039	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2		Ig-like C2-type 2.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGACTATTCGCACTGGTGCC	0.478													False	0	False	1:113655143	0	A	113655143	G	A	113655143	3	1	88	1	0	0	0	0	1	0	0	0	9007	1087	38	1	1895	1	LRIG2	1	113655143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183302	113655143	135595478	891	8603											
LRIG2	9860	broad.mit.edu	37	chr1	113657135	113657135	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtgcatagctggagggagtCctgcccctcgtctcaactgg	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113657135C>A	ENST00000361127.5	+	15	2365	c.2167C>A	c.(2167-2169)Cct>Act	p.P723T	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2		Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGGAGGGAGTCCTGCCCCTCG	0.483													False	0	False	1:113657135	0	A	113657135	C	A	113657135	3	1	88	1	0	0	0	0	1	0	0	0	9007	855	30	3	2225	3	LRIG2	1	113657135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1992	113657135	135593486	892	8604											
LRIG2	9860	broad.mit.edu	37	chr1	113662141	113662141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccctccacacagatgagCggtggtaagggatgtatttt	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113662141C>T	ENST00000361127.5	+	17	3165	c.2967C>T	c.(2965-2967)agC>agT	p.S989S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CACAGATGAGCGGTGGTAAGG	0.438													False	0	False	1:113662141	0	T	113662141	C	T	113662141	2	4	88	1	0	0	0	0	0	0	0	1	9007	767	27	1		1	LRIG2	1	113662141	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5006	113662141	135588480	893	8605											
LRIG2	9860	broad.mit.edu	37	chr1	113666508	113666508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattctcagaaacattgcagCggcccgtgtggaacataaac	9	11	1	1	rs151009293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113666508C>T	ENST00000361127.5	+	18	3181	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACATTGCAGCGGCCCGTGTG	0.418													False	0	False	1:113666508	0	T	113666508	C	T	113666508	3	4	88	1	0	0	0	0	1	0	0	0	9007	759	27	1	3053	1	LRIG2	1	113666508	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4367	113666508	135584113	894	8606											
MAGI3	260425	broad.mit.edu	37	chr1	114185035	114185035	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagatataattaaggaAatataccatcaaaatgtgca	7	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114185035A>C	ENST00000369615.1	+	10	1925	c.1863A>C	c.(1861-1863)gaA>gaC	p.E621D	MAGI3_ENST00000307546.9_Missense_Mutation_p.E621D|MAGI3_ENST00000369617.4_Missense_Mutation_p.E646D|MAGI3_ENST00000369611.4_Missense_Mutation_p.E621D	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	646	PDZ 3.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAATTAAGGAAATATACCATC	0.408													False	0	True	1:114185035	0	C	114185035	A	C	114185035	3	2	88	1	0	0	0	0	1	0	0	0	9259	11	1	4	1901	4	MAGI3	1	114185035	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	518527	114185035	135065586	895	8607											
MAGI3	260425	broad.mit.edu	37	chr1	114196597	114196597	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaagaaaatgaaggattTggctttgtcatcctcacctc	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114196597T>C	ENST00000369615.1	+	15	2648	c.2586T>C	c.(2584-2586)ttT>ttC	p.F862F	MAGI3_ENST00000307546.9_Silent_p.F862F|MAGI3_ENST00000369617.4_Silent_p.F887F|MAGI3_ENST00000369611.4_Silent_p.F862F	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	887					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGAAGGATTTGGCTTTGTCA	0.517													False	0	True	1:114196597	0	C	114196597	T	C	114196597	2	2	88	1	0	0	0	0	0	0	0	1	9259	1809	63	4		4	MAGI3	1	114196597	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11562	114196597	135054024	896	8608											
MAGI3	260425	broad.mit.edu	37	chr1	114215988	114215988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagagaggcccccggggCtttggattcagcctccgagg	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114215988C>T	ENST00000369615.1	+	19	3152	c.3090C>T	c.(3088-3090)ggC>ggT	p.G1030G	MAGI3_ENST00000307546.9_Silent_p.G1030G|MAGI3_ENST00000369617.4_Silent_p.G1055G|MAGI3_ENST00000369611.4_Silent_p.G1030G	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1055					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCCCGGGGCTTTGGATTCA	0.478													False	0	True	1:114215988	0	T	114215988	C	T	114215988	2	4	88	1	0	0	0	0	0	0	0	1	9259	784	28	2		2	MAGI3	1	114215988	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19391	114215988	135034633	897	8609											
PHTF1	10745	broad.mit.edu	37	chr1	114255905	114255905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatctaaatcttaccctaCggcacttttctccatctgaa	3	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114255905C>T	ENST00000369604.1	-	8	1262	c.779G>A	c.(778-780)cGt>cAt	p.R260H	PHTF1_ENST00000393357.2_Missense_Mutation_p.R260H|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000357783.2_Missense_Mutation_p.R260H|PHTF1_ENST00000369596.2_Missense_Mutation_p.R207H|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.R207H|PHTF1_ENST00000369598.1_Missense_Mutation_p.R215H			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	260						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTACCCTACGGCACTTTTC	0.358													False	0	False	1:114255905	0	T	114255905	C	T	114255905	3	4	88	1	0	0	0	0	1	0	0	0	11931	536	19	1	1557	1	PHTF1	1	114255905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39917	114255905	134994716	898	8610											
RSBN1	54665	broad.mit.edu	37	chr1	114340180	114340180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatgtcaaagcaagaaaCtcctcagaaaatctctccat	5	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114340180C>T	ENST00000261441.5	-	2	1245	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	394						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		aagcaagaAACTCCTCAGAAA	0.428													False	0	False	1:114340180	0	T	114340180	C	T	114340180	2	4	88	1	0	0	0	0	0	0	0	1	13775	564	20	2		2	RSBN1	1	114340180	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84275	114340180	134910441	899	8611											
PTPN22	26191	broad.mit.edu	37	chr1	114414173	114414173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaccagaaattcattggCaaactcctctttagtaattt	4	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114414173C>T	ENST00000359785.5	-	1	208	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	PTPN22_ENST00000528414.1_Missense_Mutation_p.A25T|PTPN22_ENST00000420377.2_Missense_Mutation_p.A25T|PTPN22_ENST00000525799.1_Missense_Mutation_p.A25T|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000460620.1_Missense_Mutation_p.A25T|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000538253.1_5'UTR	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	25	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTCATTGGCAAACTCCTCT	0.413													False	0	True	1:114414173	0	T	114414173	C	T	114414173	3	4	88	1	0	0	0	0	1	0	0	0	12866	710	25	2	2457	2	PTPN22	1	114414173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73993	114414173	134836448	900	8612											
BCL2L15	440603	broad.mit.edu	37	chr1	114429225	114429225	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattctccgttgaactggtcAcccaacatccgaaggcgacc	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114429225A>G	ENST00000393316.3	-	2	354	c.183T>C	c.(181-183)ggT>ggC	p.G61G	AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000488450.1_Intron|BCL2L15_ENST00000471267.1_Silent_p.G61G	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	61					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAACTGGTCACCCAACATCC	0.448													False	0	True	1:114429225	0	G	114429225	A	G	114429225	2	3	88	1	0	0	0	0	0	0	0	1	1377	146	6	4		4	BCL2L15	1	114429225	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15052	114429225	134821396	901	8613											
AP4B1	10717	broad.mit.edu	37	chr1	114440517	114440517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctgacatacagcttcaGtacactgaggacacaaccaa	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114440517G>A	ENST00000369569.1	-	7	1527	c.1247C>T	c.(1246-1248)aCt>aTt	p.T416I	AP4B1_ENST00000369567.1_Missense_Mutation_p.T248I|AP4B1_ENST00000256658.4_Missense_Mutation_p.T416I|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	416					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGCTTCAGTACACTGAGG	0.502													False	0	False	1:114440517	0	A	114440517	G	A	114440517	3	1	88	1	0	0	0	0	1	0	0	0	753	1029	36	2	988	2	AP4B1	1	114440517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11292	114440517	134810104	902	8614											
AP4B1	10717	broad.mit.edu	37	chr1	114442734	114442734	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctggtaaactatgcaagatCtggcgtacatgacaaagagc	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114442734C>A	ENST00000369569.1	-	5	1186	c.906G>T	c.(904-906)caG>caT	p.Q302H	AP4B1_ENST00000369567.1_Missense_Mutation_p.Q134H|AP4B1_ENST00000256658.4_Missense_Mutation_p.Q302H|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.Q209H	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	302					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATGCAAGATCTGGCGTACAT	0.473													False	0	False	1:114442734	0	A	114442734	C	A	114442734	3	1	88	1	0	0	0	0	1	0	0	0	753	912	32	3	1337	3	AP4B1	1	114442734	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2217	114442734	134807887	903	8615											
AP4B1	10717	broad.mit.edu	37	chr1	114442925	114442925	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttgaggaaactatccaacaGattgagaatgtcaaatagtt	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114442925G>T	ENST00000369569.1	-	5	995	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	AP4B1_ENST00000369567.1_Missense_Mutation_p.L71M|AP4B1_ENST00000256658.4_Missense_Mutation_p.L239M|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.L146M	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	239					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATCCAACAGATTGAGAATG	0.453													False	0	False	1:114442925	0	T	114442925	G	T	114442925	3	4	88	1	0	0	0	0	1	0	0	0	753	933	33	3	1528	3	AP4B1	1	114442925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191	114442925	134807696	904	8616											
AP4B1	10717	broad.mit.edu	37	chr1	114443916	114443916	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacgcctccttcctgtttcaGaatttcctctagagacctca	5	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114443916G>A	ENST00000369569.1	-	4	839	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Silent_p.L187L|AP4B1_ENST00000369566.3_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	187					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGTTTCAGAATTTCCTCT	0.418													False	0	False	1:114443916	0	A	114443916	G	A	114443916	2	1	88	1	0	0	0	0	0	0	0	1	753	933	33	2		2	AP4B1	1	114443916	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	991	114443916	134806705	905	8617											
AP4B1	10717	broad.mit.edu	37	chr1	114445332	114445332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcagtctttgcacagcGtattgatggccaggagagcc	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114445332G>A	ENST00000369569.1	-	2	546	c.266C>T	c.(265-267)aCg>aTg	p.T89M	AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Missense_Mutation_p.T89M|AP4B1_ENST00000369566.3_Missense_Mutation_p.T89M	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	89					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGCACAGCGTATTGATGGC	0.522													False	0	False	1:114445332	0	A	114445332	G	A	114445332	3	1	88	1	0	0	0	0	1	0	0	0	753	1145	40	1	1989	1	AP4B1	1	114445332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1416	114445332	134805289	906	8618											
DCLRE1B	64858	broad.mit.edu	37	chr1	114448377	114448377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccccaattacagcccacCtcttgcatcgtcacctacag	5	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114448377C>T	ENST00000369563.3	+	1	615	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	57					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGCCCACCTCTTGCATCG	0.587								Other identified genes with known or suspected DNA repair function			OREG0004772	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	False	0	False	1:114448377	0	T	114448377	C	T	114448377	3	4	88	1	0	0	0	0	1	0	0	0	4320	681	24	2	171	2	DCLRE1B	1	114448377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3045	114448377	134802244	907	8619											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454079	114454079	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgcctttgtcgcagcaCtgaagccttgccaggtggtg	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114454079C>A	ENST00000369563.3	+	4	1311	c.865C>A	c.(865-867)Ctg>Atg	p.L289M	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	289					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCGCAGCACTGAAGCCTTG	0.577								Other identified genes with known or suspected DNA repair function					False	0	False	1:114454079	0	A	114454079	C	A	114454079	3	1	88	1	0	0	0	0	1	0	0	0	4320	564	20	3	879	3	DCLRE1B	1	114454079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5702	114454079	134796542	908	8620											
HIPK1	204851	broad.mit.edu	37	chr1	114483457	114483457	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcatgctgcaaaacaggaCtgtggtgggtgctgctgcca	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114483457C>A	ENST00000369558.1	+	2	684	c.452C>A	c.(451-453)aCt>aAt	p.T151N	HIPK1_ENST00000426820.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369559.4_Missense_Mutation_p.T151N|HIPK1_ENST00000369555.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369554.2_Missense_Mutation_p.T151N|HIPK1_ENST00000369561.4_Missense_Mutation_p.T151N			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAACAGGACTGTGGTGGGT	0.493													False	0	False	1:114483457	0	A	114483457	C	A	114483457	3	1	88	1	0	0	0	0	1	0	0	0	7163	565	20	3	454	3	HIPK1	1	114483457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29378	114483457	134767164	909	8621											
TRIM33	51592	broad.mit.edu	37	chr1	114948188	114948188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catctcctccaatccttgccGacctgtgcatgaggcttcga	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114948188G>A	ENST00000358465.2	-	15	2695	c.2612C>T	c.(2611-2613)tCg>tTg	p.S871L	TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Missense_Mutation_p.S871L|TRIM33_ENST00000450349.2_Missense_Mutation_p.S503L	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	871					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATCCTTGCCGACCTGTGCAT	0.468			T	RET	papillary thyroid								False	0	False	1:114948188	0	A	114948188	G	A	114948188	3	1	88	1	0	0	0	0	1	0	0	0	16590	1059	37	1	795	1	TRIM33	1	114948188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	464731	114948188	134302433	910	8622											
TRIM33	51592	broad.mit.edu	37	chr1	114968227	114968227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgtgctggagtcgaagCtgtgctaagttaatctgtcc	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114968227C>T	ENST00000358465.2	-	9	1622	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	TRIM33_ENST00000369543.2_Silent_p.Q513Q|TRIM33_ENST00000450349.2_Silent_p.Q121Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	513					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGTCGAAGCTGTGCTAAGT	0.458			T	RET	papillary thyroid								False	0	False	1:114968227	0	T	114968227	C	T	114968227	2	4	88	1	0	0	0	0	0	0	0	1	16590	796	28	2		2	TRIM33	1	114968227	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20039	114968227	134282394	911	8623											
NRAS	4893	broad.mit.edu	37	chr1	115252229	115252229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcaatgaatggaatcccGtaactcttggccagttcgtg	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115252229G>A	ENST00000369535.4	-	4	664	c.411C>T	c.(409-411)taC>taT	p.Y137Y		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	137					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGGAATCCCGTAACTCTTGG	0.448		50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			False	0	True	1:115252229	0	A	115252229	G	A	115252229	2	1	88	1	0	0	0	0	0	0	0	1	10708	1140	40	1		1	NRAS	1	115252229	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284002	115252229	133998392	912	8624											
CSDE1	7812	broad.mit.edu	37	chr1	115263337	115263337	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacctcacctttcatatcGcctgtaaaacaggtacaaag	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115263337G>A	ENST00000438362.2	-	17	2391	c.2013C>T	c.(2011-2013)ggC>ggT	p.G671G	CSDE1_ENST00000339438.6_Splice_Site_p.G594G|CSDE1_ENST00000530886.1_Splice_Site_p.G495G|CSDE1_ENST00000369530.1_Splice_Site_p.G640G|CSDE1_ENST00000534699.1_Splice_Site_p.G625G|CSDE1_ENST00000261443.5_Splice_Site_p.G594G|CSDE1_ENST00000358528.4_Splice_Site_p.G625G	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	625					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTCATATCGCCTGTAAAAC	0.428													False	0	False	1:115263337	0	A	115263337	G	A	115263337	5	1	88	1	0	0	0	0	0	0	1	0	3954	1101	38	1	537	1	CSDE1	1	115263337	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11108	115263337	133987284	913	8625											
CSDE1	7812	broad.mit.edu	37	chr1	115269646	115269646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagatccttccacatccttGgcttgaaaagcaatagtcag	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115269646G>A	ENST00000438362.2	-	13	1938	c.1560C>T	c.(1558-1560)gcC>gcT	p.A520A	CSDE1_ENST00000339438.6_Silent_p.A443A|CSDE1_ENST00000530886.1_Silent_p.A344A|CSDE1_ENST00000369530.1_Silent_p.A489A|CSDE1_ENST00000534699.1_Silent_p.A474A|CSDE1_ENST00000261443.5_Silent_p.A443A|CSDE1_ENST00000358528.4_Silent_p.A474A	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	474	CSD 7.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACATCCTTGGCTTGAAAAG	0.388													False	0	False	1:115269646	0	A	115269646	G	A	115269646	2	1	88	1	0	0	0	0	0	0	0	1	3954	1335	47	2		2	CSDE1	1	115269646	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6309	115269646	133980975	914	8626											
CSDE1	7812	broad.mit.edu	37	chr1	115272879	115272879	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggattatgcaaaacctacCttctctttgcctttatttgg	6	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115272879C>A	ENST00000438362.2	-	12	1872	c.1494G>T	c.(1492-1494)aaG>aaT	p.K498N	CSDE1_ENST00000339438.6_Splice_Site_p.K421N|CSDE1_ENST00000530886.1_Splice_Site_p.K322N|CSDE1_ENST00000369530.1_Splice_Site_p.K467N|CSDE1_ENST00000534699.1_Splice_Site_p.K452N|CSDE1_ENST00000261443.5_Splice_Site_p.K421N|CSDE1_ENST00000358528.4_Splice_Site_p.K452N	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	452	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAACCTACCTTCTCTTTGC	0.373													False	0	True	1:115272879	0	A	115272879	C	A	115272879	5	1	88	1	0	0	0	0	0	0	1	0	3954	695	24	3	1076	3	CSDE1	1	115272879	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3233	115272879	133977742	915	8627											
CSDE1	7812	broad.mit.edu	37	chr1	115272969	115272969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaacggtgatctgaatgGgaatgaaatgaaaccgtgcc	12	6	1	5	rs147370534	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115272969G>A	ENST00000438362.2	-	12	1782	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S	CSDE1_ENST00000339438.6_Silent_p.S391S|CSDE1_ENST00000530886.1_Silent_p.S292S|CSDE1_ENST00000369530.1_Silent_p.S437S|CSDE1_ENST00000534699.1_Silent_p.S422S|CSDE1_ENST00000261443.5_Silent_p.S391S|CSDE1_ENST00000358528.4_Silent_p.S422S	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	422	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCTGAATGGGAATGAAATG	0.373													False	0	True	1:115272969	0	A	115272969	G	A	115272969	2	1	88	1	0	0	0	0	0	0	0	1	3954	1219	43	2		2	CSDE1	1	115272969	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90	115272969	133977652	916	8628											
CSDE1	7812	broad.mit.edu	37	chr1	115275328	115275328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgaaatattaaacctaAcatggtcaccttccagcagg	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115275328A>G	ENST00000438362.2	-	10	1463	c.1085T>C	c.(1084-1086)gTt>gCt	p.V362A	CSDE1_ENST00000339438.6_Missense_Mutation_p.V285A|CSDE1_ENST00000530886.1_Missense_Mutation_p.V186A|CSDE1_ENST00000369530.1_Missense_Mutation_p.V331A|CSDE1_ENST00000534699.1_Missense_Mutation_p.V316A|CSDE1_ENST00000261443.5_Missense_Mutation_p.V285A|CSDE1_ENST00000358528.4_Missense_Mutation_p.V316A	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	316	CSD 5.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTAAACCTAACATGGTCACC	0.418													False	0	False	1:115275328	0	G	115275328	A	G	115275328	3	3	88	1	0	0	0	0	1	0	0	0	3954	43	2	4	1493	4	CSDE1	1	115275328	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2359	115275328	133975293	917	8629											
TSPAN2	10100	broad.mit.edu	37	chr1	115601596	115601596	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacatggtctgaacatgtcGgatagcctgaagaaatacaa	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115601596G>A	ENST00000369516.2	-	5	383	c.352C>T	c.(352-354)Cga>Tga	p.R118*	TSPAN2_ENST00000369514.2_Nonsense_Mutation_p.R118*|TSPAN2_ENST00000369515.2_Nonsense_Mutation_p.R93*	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	118			R -> L (in dbSNP:rs9659602).			integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TGAACATGTCGGATAGCCTGA	0.418													False	0	False	1:115601596	0	A	115601596	G	A	115601596	4	1	88	1	0	0	0	0	0	1	0	0	16727	1124	39	1	329	1	TSPAN2	1	115601596	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326268	115601596	133649025	918	8630											
NGF	4803	broad.mit.edu	37	chr1	115829086	115829086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtcctgttgaagggggCagcaccaccgacctcgaagt	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115829086C>T	ENST00000369512.2	-	3	499	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	111					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TTGAAGGGGGCAGCACCACCG	0.587													False	0	True	1:115829086	0	T	115829086	C	T	115829086	3	4	88	1	0	0	0	0	1	0	0	0	10463	710	25	2	398	2	NGF	1	115829086	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227490	115829086	133421535	919	8631											
NGF	4803	broad.mit.edu	37	chr1	115829359	115829359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacattgctctctgagtgtgGttccgcctgtatgccgatca	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115829359G>A	ENST00000369512.2	-	3	226	c.58C>T	c.(58-60)Cca>Tca	p.P20S	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	20					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCTGAGTGTGGTTCCGCCTGT	0.512													False	0	False	1:115829359	0	A	115829359	G	A	115829359	3	1	88	1	0	0	0	0	1	0	0	0	10463	1261	44	2	671	2	NGF	1	115829359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273	115829359	133421262	920	8632											
VANGL1	81839	broad.mit.edu	37	chr1	116233771	116233771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtacctcagtgcgggccCcaccctgcaatatgacaagg	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116233771C>T	ENST00000355485.2	+	8	1617	c.1346C>T	c.(1345-1347)cCc>cTc	p.P449L	VANGL1_ENST00000369509.1_Missense_Mutation_p.P449L|VANGL1_ENST00000369510.4_Missense_Mutation_p.P447L|VANGL1_ENST00000310260.3_Missense_Mutation_p.P449L	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	449					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGTGCGGGCCCCACCCTGCAA	0.542													False	0	True	1:116233771	0	T	116233771	C	T	116233771	3	4	88	1	0	0	0	0	1	0	0	0	17203	623	22	2	1372	2	VANGL1	1	116233771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	404412	116233771	133016850	921	8633											
SLC22A15	55356	broad.mit.edu	37	chr1	116562216	116562216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctagtggtttttaattgCcaacagatcctacaaagtca	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116562216C>T	ENST00000369503.4	+	3	444	c.314C>T	c.(313-315)gCc>gTc	p.A105V	SLC22A15_ENST00000369502.1_Missense_Mutation_p.A105V	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	105					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTTTTAATTGCCAACAGATCC	0.378													False	0	False	1:116562216	0	T	116562216	C	T	116562216	3	4	88	1	0	0	0	0	1	0	0	0	14527	739	26	2	324	2	SLC22A15	1	116562216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	328445	116562216	132688405	922	8634											
SLC22A15	55356	broad.mit.edu	37	chr1	116577810	116577810	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgactcccaattgcaggtTtgtgtgcagcttggtgtatt	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116577810T>G	ENST00000369503.4	+	7	1077	c.947T>G	c.(946-948)tTt>tGt	p.F316C	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	316					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AATTGCAGGTTTGTGTGCAGC	0.443													False	0	True	1:116577810	0	G	116577810	T	G	116577810	3	3	88	1	0	0	0	0	1	0	0	0	14527	1841	64	4	973	4	SLC22A15	1	116577810	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15594	116577810	132672811	923	8635											
ATP1A1	476	broad.mit.edu	37	chr1	116930090	116930090	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atagcatccaagctgctacaGaagaggaacctcaaaacgat	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116930090G>T	ENST00000537345.1	+	4	727	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	ATP1A1_ENST00000369496.4_Nonsense_Mutation_p.E91*|ATP1A1_ENST00000295598.5_Nonsense_Mutation_p.E122*	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	122					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGCTGCTACAGAAGAGGAACC	0.423													False	0	False	1:116930090	0	T	116930090	G	T	116930090	4	4	88	1	0	0	0	0	0	1	0	0	1132	943	33	3	394	3	ATP1A1	1	116930090	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	352280	116930090	132320531	924	8636											
ATP1A1	476	broad.mit.edu	37	chr1	116943830	116943830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtggtggtgcagtgggccGacttggtcatctgtaagacc	15	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116943830G>A	ENST00000537345.1	+	20	3160	c.2797G>A	c.(2797-2799)Gac>Aac	p.D933N	ATP1A1_ENST00000369496.4_Missense_Mutation_p.D902N|ATP1A1_ENST00000295598.5_Missense_Mutation_p.D933N	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	933					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GCAGTGGGCCGACTTGGTCAT	0.507													False	0	False	1:116943830	0	A	116943830	G	A	116943830	3	1	88	1	0	0	0	0	1	0	0	0	1132	1058	37	1	2891	1	ATP1A1	1	116943830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13740	116943830	132306791	925	8637											
CD58	965	broad.mit.edu	37	chr1	117078761	117078761	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagtacattataagtcctcGatggctgttgtaatgctctg	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117078761G>A	ENST00000457047.2	-	3	507	c.454C>T	c.(454-456)Cga>Tga	p.R152*	CD58_ENST00000369489.5_Nonsense_Mutation_p.R152*|CD58_ENST00000369487.3_Nonsense_Mutation_p.R152*	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	152	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ATAAGTCCTCGATGGCTGTTG	0.373													False	0	False	1:117078761	0	A	117078761	G	A	117078761	4	1	88	1	0	0	0	0	0	1	0	0	3048	1066	37	1	318	1	CD58	1	117078761	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134931	117078761	132171860	926	8638											
IGSF3	3321	broad.mit.edu	37	chr1	117120136	117120136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagggtagaagaagacgAagtagaagagtgcgtcgttg	17	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117120136A>G	ENST00000369486.3	-	11	4148	c.3383T>C	c.(3382-3384)tTc>tCc	p.F1128S	IGSF3_ENST00000318837.6_Missense_Mutation_p.F1148S|IGSF3_ENST00000369483.1_Missense_Mutation_p.F1148S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1128						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GAAGAAGACGAAGTAGAAGAG	0.498													False	0	False	1:117120136	0	G	117120136	A	G	117120136	3	3	88	1	0	0	0	0	1	0	0	0	7651	246	9	4	205	4	IGSF3	1	117120136	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41375	117120136	132130485	927	8639											
IGSF3	3321	broad.mit.edu	37	chr1	117159032	117159032	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagccctccgtgcggtAcaagggtccttcctgaacgg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117159032A>G	ENST00000369486.3	-	3	856	c.91T>C	c.(91-93)Tac>Cac	p.Y31H	IGSF3_ENST00000318837.6_Missense_Mutation_p.Y31H|IGSF3_ENST00000369483.1_Missense_Mutation_p.Y31H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	31	Ig-like C2-type 1.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCCGTGCGGTACAAGGGTCCT	0.527													False	0	False	1:117159032	0	G	117159032	A	G	117159032	3	3	88	1	0	0	0	0	1	0	0	0	7651	391	14	4	3593	4	IGSF3	1	117159032	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38896	117159032	132091589	928	8640											
CD2	914	broad.mit.edu	37	chr1	117297122	117297122	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaacccctaagatgagctTtccatgtaaatttgtagcca	6	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117297122T>G	ENST00000369478.3	+	1	116	c.8T>G	c.(7-9)tTt>tGt	p.F3C	CD2_ENST00000369477.1_Missense_Mutation_p.F3C	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	3					blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAGATGAGCTTTCCATGTAAA	0.438													False	0	True	1:117297122	0	G	117297122	T	G	117297122	3	3	88	1	0	0	0	0	1	0	0	0	3002	1841	64	4	10	4	CD2	1	117297122	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	138090	117297122	131953499	929	8641											
CD2	914	broad.mit.edu	37	chr1	117297274	117297274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtctccaaagagattaCgaatgccttggaaacctggg	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117297274C>T	ENST00000369478.3	+	2	191	c.83C>T	c.(82-84)aCg>aTg	p.T28M	CD2_ENST00000369477.1_Missense_Mutation_p.T28M	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	28	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAAGAGATTACGAATGCCTTG	0.413													False	0	False	1:117297274	0	T	117297274	C	T	117297274	3	4	88	1	0	0	0	0	1	0	0	0	3002	536	19	1	89	1	CD2	1	117297274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152	117297274	131953347	930	8642											
CD101	9398	broad.mit.edu	37	chr1	117556224	117556224	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactacaaagagagagcaagTcaaggagagctccaggtttc	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117556224T>C	ENST00000256652.4	+	4	1096	c.1038T>C	c.(1036-1038)agT>agC	p.S346S	CD101_ENST00000369470.1_Silent_p.S346S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	346	Ig-like C2-type 3.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAGAGCAAGTCAAGGAGAGC	0.498													False	0	False	1:117556224	0	C	117556224	T	C	117556224	2	2	88	1	0	0	0	0	0	0	0	1	2985	1664	58	4		4	CD101	1	117556224	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	258950	117556224	131694397	931	8643											
CD101	9398	broad.mit.edu	37	chr1	117568492	117568492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaatcaagcatccgatgaGtcacagcggatggtgctcac	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117568492G>A	ENST00000256652.4	+	8	2848	c.2790G>A	c.(2788-2790)gaG>gaA	p.E930E	CD101_ENST00000369470.1_Silent_p.E930E|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	930					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATCCGATGAGTCACAGCGGA	0.532													False	0	False	1:117568492	0	A	117568492	G	A	117568492	2	1	88	1	0	0	0	0	0	0	0	1	2985	1020	36	2		2	CD101	1	117568492	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12268	117568492	131682129	932	8644											
TTF2	8458	broad.mit.edu	37	chr1	117618864	117618864	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagaagttgatcaaacaAatccaggagctggaggaagt	13	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117618864A>C	ENST00000369466.4	+	6	1382	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGATCAAACAAATCCAGGAGC	0.473													False	0	True	1:117618864	0	C	117618864	A	C	117618864	3	2	88	1	0	0	0	0	1	0	0	0	16803	11	1	4	1360	4	TTF2	1	117618864	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50372	117618864	131631757	933	8645											
TRIM45	80263	broad.mit.edu	37	chr1	117658224	117658224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttctttgatgcagacCcacacagtatagacgccagg	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117658224C>A	ENST00000256649.4	-	4	1966	c.1440G>T	c.(1438-1440)tgG>tgT	p.W480C	TRIM45_ENST00000369464.3_Missense_Mutation_p.W462C|TRIM45_ENST00000369461.3_Missense_Mutation_p.W423C	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	480						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TGATGCAGACCCACACAGTAT	0.488													False	0	True	1:117658224	0	A	117658224	C	A	117658224	3	1	88	1	0	0	0	0	1	0	0	0	16603	624	22	3	314	3	TRIM45	1	117658224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39360	117658224	131592397	934	8646											
VTCN1	79679	broad.mit.edu	37	chr1	117695864	117695864	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggtattggagacttccgaGaagttggctccctggtcaac	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117695864G>T	ENST00000369458.3	-	4	651	c.573C>A	c.(571-573)ttC>ttA	p.F191L	VTCN1_ENST00000359008.4_Missense_Mutation_p.F194L|VTCN1_ENST00000539893.1_Missense_Mutation_p.F96L|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000328189.3_Missense_Mutation_p.F75L	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	191	Ig-like V-type 2.					integral to membrane|plasma membrane		p.F191L(1)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AGACTTCCGAGAAGTTGGCTC	0.517													False	0	False	1:117695864	0	T	117695864	G	T	117695864	3	4	88	1	0	0	0	0	1	0	0	0	17318	933	33	3	283	3	VTCN1	1	117695864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37640	117695864	131554757	935	8647											
MAN1A2	10905	broad.mit.edu	37	chr1	117945040	117945040	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagaagataatgacataagaGagaaaagggaaaaaattaaa	9	2	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117945040G>A	ENST00000356554.3	+	2	1270	c.535G>A	c.(535-537)Gag>Aag	p.E179K	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	179					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGACATAAGAGAGAAAAGGGA	0.358													False	0	True	1:117945040	0	A	117945040	G	A	117945040	3	1	88	1	0	0	0	0	1	0	0	0	9278	943	33	2	541	2	MAN1A2	1	117945040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249176	117945040	131305581	936	8648											
GDAP2	54834	broad.mit.edu	37	chr1	118441693	118441693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcaccttctggagcaccaGgtttctcacttattctaatc	5	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441693G>T	ENST00000369443.5	-	7	1031	c.782C>A	c.(781-783)cCt>cAt	p.P261H	GDAP2_ENST00000369442.3_Missense_Mutation_p.P261H|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2											kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TGGAGCACCAGGTTTCTCACT	0.433													False	0	False	1:118441693	0	T	118441693	G	T	118441693	3	4	88	1	0	0	0	0	1	0	0	0	6353	1000	35	3	788	3	GDAP2	1	118441693	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	496653	118441693	130808928	937	8649											
GDAP2	54834	broad.mit.edu	37	chr1	118441835	118441835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtagcagcttttggtaagTaccctgtgtcagaaaagcaa	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441835T>C	ENST00000369443.5	-	7	889	c.640A>G	c.(640-642)Act>Gct	p.T214A	GDAP2_ENST00000369442.3_Missense_Mutation_p.T214A	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2		Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TTTTGGTAAGTACCCTGTGTC	0.423													False	0	False	1:118441835	0	C	118441835	T	C	118441835	3	2	88	1	0	0	0	0	1	0	0	0	6353	1638	57	4	930	4	GDAP2	1	118441835	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	142	118441835	130808786	938	8650											
GDAP2	54834	broad.mit.edu	37	chr1	118455300	118455300	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattttgcttcacctgttcGgcaccctgaaaacaatggaa	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118455300G>A	ENST00000369443.5	-	4	571	c.322C>T	c.(322-324)Cga>Tga	p.R108*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R108*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2		Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TCACCTGTTCGGCACCCTGAA	0.398													False	0	False	1:118455300	0	A	118455300	G	A	118455300	4	1	88	1	0	0	0	0	0	1	0	0	6353	1124	39	1	1260	1	GDAP2	1	118455300	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13465	118455300	130795321	939	8651											
GDAP2	54834	broad.mit.edu	37	chr1	118462854	118462854	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attataaagaaaaggtgatcGaacagtgtcttcctgaaata	8	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118462854G>A	ENST00000369443.5	-	2	376	c.127C>T	c.(127-129)Cga>Tga	p.R43*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R43*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2		Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AAAGGTGATCGAACAGTGTCT	0.358													False	0	False	1:118462854	0	A	118462854	G	A	118462854	4	1	88	1	0	0	0	0	0	1	0	0	6353	1066	37	1	1463	1	GDAP2	1	118462854	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7554	118462854	130787767	940	8652											
WDR3	10885	broad.mit.edu	37	chr1	118492397	118492397	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgtgacaggtggtgcAgataaatctgtcaaattctg	12	6	3	2	rs111307478		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118492397A>G	ENST00000349139.5	+	14	1595	c.1548A>G	c.(1546-1548)gcA>gcG	p.A516A		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAGGTGGTGCAGATAAATCTG	0.313													False	0	False	1:118492397	0	G	118492397	A	G	118492397	2	3	88	1	0	0	0	0	0	0	0	1	17369	175	7	4		4	WDR3	1	118492397	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29543	118492397	130758224	941	8653											
WDR3	10885	broad.mit.edu	37	chr1	118495213	118495213	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagactatgttgtatcatcGtcccatgacaaatctctgag	9	9	2	3	rs139563237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118495213G>A	ENST00000349139.5	+	19	2126	c.2079G>A	c.(2077-2079)tcG>tcA	p.S693S		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTGTATCATCGTCCCATGACA	0.413													False	0	False	1:118495213	0	A	118495213	G	A	118495213	2	1	88	1	0	0	0	0	0	0	0	1	17369	1132	40	1		1	WDR3	1	118495213	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2816	118495213	130755408	942	8654											
WDR3	10885	broad.mit.edu	37	chr1	118501532	118501532	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttttgtttttctatcaGgattcactttggacagatca	8	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118501532G>T	ENST00000349139.5	+	26	2629		c.e26-1		SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTTTCTATCAGGATTCACTTT	0.383													False	0	False	1:118501532	0	T	118501532	G	T	118501532	5	4	88	1	0	0	0	0	0	0	1	0	17369	1014	35	3	2680	3	WDR3	1	118501532	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6319	118501532	130749089	943	8655											
SPAG17	200162	broad.mit.edu	37	chr1	118727776	118727776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctttctccttcttgggtGccatgcaaaggacgggagaa	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118727776G>A	ENST00000336338.5	-	1	70	c.5C>T	c.(4-6)gCa>gTa	p.A2V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTCTTGGGTGCCATGCAAAG	0.552													False	0	False	1:118727776	0	A	118727776	G	A	118727776	3	1	88	1	0	0	0	0	1	0	0	0	15061	1319	46	2	6858	2	SPAG17	1	118727776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226244	118727776	130522845	944	8656											
TBX15	6913	broad.mit.edu	37	chr1	119427768	119427768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggaccccagctggccacCgtaggcttccatcttgctgt	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119427768C>T	ENST00000369429.3	-	8	1405	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S	TBX15_ENST00000207157.3_Missense_Mutation_p.G360S			Q96SF7	TBX15_HUMAN	T-box 15	466						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGCTGGCCACCGTAGGCTTCC	0.567													False	0	False	1:119427768	0	T	119427768	C	T	119427768	3	4	88	1	0	0	0	0	1	0	0	0	15734	652	23	1	416	1	TBX15	1	119427768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	699992	119427768	129822853	945	8657											
TBX15	6913	broad.mit.edu	37	chr1	119474288	119474288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttccaatatcatggaaccGcttccagaggtcagcacatt	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119474288G>A	ENST00000369429.3	-	2	382	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TBX15_ENST00000207157.3_Missense_Mutation_p.R19W			Q96SF7	TBX15_HUMAN	T-box 15	125						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCATGGAACCGCTTCCAGAGG	0.507													False	0	False	1:119474288	0	A	119474288	G	A	119474288	3	1	88	1	0	0	0	0	1	0	0	0	15734	1086	38	1	1463	1	TBX15	1	119474288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46520	119474288	129776333	946	8658											
HAO2	51179	broad.mit.edu	37	chr1	119923708	119923708	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctccttggaaggtccagaAatgtccttggtgtgtttgac	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119923708A>C	ENST00000361035.4	+	3	322	c.39A>C	c.(37-39)gaA>gaC	p.E13D	HAO2_ENST00000325945.3_5'UTR			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	0	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AAGGTCCAGAAATGTCCTTGG	0.453													False	0	True	1:119923708	0	C	119923708	A	C	119923708	3	2	88	1	0	0	0	0	1	0	0	0	6999	29	1	4	2	4	HAO2	1	119923708	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	449420	119923708	129326913	947	8659											
HAO2	51179	broad.mit.edu	37	chr1	119929252	119929252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatttcctatagggaaatgCaataccttatttccagatga	6	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119929252C>T	ENST00000361035.4	+	6	891	c.608C>T	c.(607-609)gCa>gTa	p.A203V	HAO2_ENST00000325945.3_Missense_Mutation_p.A190V			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	190	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TAGGGAAATGCAATACCTTAT	0.428													False	0	False	1:119929252	0	T	119929252	C	T	119929252	3	4	88	1	0	0	0	0	1	0	0	0	6999	710	25	2	583	2	HAO2	1	119929252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5544	119929252	129321369	948	8660											
HSD3B1	3283	broad.mit.edu	37	chr1	120056800	120056800	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtcaagtgttggaaagttCtccactgttaacccagtcta	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120056800C>A	ENST00000235547.6	+	4	799	c.660C>A	c.(658-660)ttC>ttA	p.F220L	HSD3B1_ENST00000369413.3_Missense_Mutation_p.F218L|HSD3B1_ENST00000528909.1_Missense_Mutation_p.F218L	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	218					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TTGGAAAGTTCTCCACTGTTA	0.527													False	0	False	1:120056800	0	A	120056800	C	A	120056800	3	1	88	1	0	0	0	0	1	0	0	0	7437	912	32	3	664	3	HSD3B1	1	120056800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127548	120056800	129193821	949	8661											
HSD3B1	3283	broad.mit.edu	37	chr1	120057147	120057147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttctcttataagaaggCtcagcgagatctggcgtata	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120057147C>T	ENST00000235547.6	+	4	1146	c.1007C>T	c.(1006-1008)gCt>gTt	p.A336V	HSD3B1_ENST00000369413.3_Missense_Mutation_p.A334V|HSD3B1_ENST00000528909.1_Missense_Mutation_p.A334V	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	334					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TATAAGAAGGCTCAGCGAGAT	0.517													False	0	False	1:120057147	0	T	120057147	C	T	120057147	3	4	88	1	0	0	0	0	1	0	0	0	7437	797	28	2	1011	2	HSD3B1	1	120057147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347	120057147	129193474	950	8662											
ZNF697	90874	broad.mit.edu	37	chr1	120165879	120165879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggtgcgaacggcgcaCgaagcccttgccgcactccc	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120165879C>T	ENST00000421812.2	-	3	1206	c.1087G>A	c.(1087-1089)Gtg>Atg	p.V363M		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAACGGCGCACGAAGCCCTTG	0.746													False	0	False	1:120165879	0	T	120165879	C	T	120165879	3	4	88	1	0	0	0	0	1	0	0	0	18183	536	19	1	554	1	ZNF697	1	120165879	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108732	120165879	129084742	951	8663											
PHGDH	26227	broad.mit.edu	37	chr1	120277277	120277277	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actatagggtatgaccccatCatttccccagaggtctcggc	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120277277C>T	ENST00000369407.3	+	5	1936	c.429C>T	c.(427-429)atC>atT	p.I143I	PHGDH_ENST00000369409.4_Silent_p.I177I			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	177					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	ATGACCCCATCATTTCCCCAG	0.463													False	0	False	1:120277277	0	T	120277277	C	T	120277277	2	4	88	1	0	0	0	0	0	0	0	1	11910	816	29	2		2	PHGDH	1	120277277	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111398	120277277	128973344	952	8664											
PHGDH	26227	broad.mit.edu	37	chr1	120284428	120284428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaactgcctaagccccGcagtcattgtcggcctcctg	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120284428G>A	ENST00000369407.3	+	9	2522	c.1015G>A	c.(1015-1017)Gca>Aca	p.A339T	PHGDH_ENST00000369409.4_Missense_Mutation_p.A373T|PHGDH_ENST00000482968.1_3'UTR			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	373					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCTAAGCCCCGCAGTCATTGT	0.567													False	0	True	1:120284428	0	A	120284428	G	A	120284428	3	1	88	1	0	0	0	0	1	0	0	0	11910	1087	38	1	1155	1	PHGDH	1	120284428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7151	120284428	128966193	953	8665											
HMGCS2	3158	broad.mit.edu	37	chr1	120295298	120295298	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacttgtccaggggagagcCtgggaagcaaaagcaagatt	13	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120295298C>T	ENST00000369406.3	-	8	1344		c.e8-1		HMGCS2_ENST00000544913.2_Splice_Site	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)						acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AGGGGAGAGCCTGGGAAGCAA	0.478													False	0	False	1:120295298	0	T	120295298	C	T	120295298	5	4	88	1	0	0	0	0	0	0	1	0	7280	695	24	2	240	2	HMGCS2	1	120295298	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10870	120295298	128955323	954	8666											
ADAM30	11085	broad.mit.edu	37	chr1	120438762	120438762	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcttgccttttaactgCagtaggtaggacacgggact	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120438762C>T	ENST00000369400.1	-	1	356	c.198G>A	c.(196-198)ctG>ctA	p.L66L		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	66					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTTTTAACTGCAGTAGGTAGG	0.542													False	0	False	1:120438762	0	T	120438762	C	T	120438762	2	4	88	1	0	0	0	0	0	0	0	1	248	697	25	2		2	ADAM30	1	120438762	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143464	120438762	128811859	955	8667											
NOTCH2	4853	broad.mit.edu	37	chr1	120458178	120458178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgaggaagcataactgtgCtgtgaagggggtgtggggta	18	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120458178C>T	ENST00000256646.2	-	34	7386	c.7167G>A	c.(7165-7167)caG>caA	p.Q2389Q		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2389					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATAACTGTGCTGTGAAGGGG	0.582			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				False	0	True	1:120458178	0	T	120458178	C	T	120458178	2	4	88	1	0	0	0	0	0	0	0	1	10616	796	28	2		2	NOTCH2	1	120458178	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19416	120458178	128792443	956	8668											
NOTCH2	4853	broad.mit.edu	37	chr1	120459014	120459014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggaggctagtaggcatggTactcttggcactgggccgtc	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120459014T>C	ENST00000256646.2	-	34	6550	c.6331A>G	c.(6331-6333)Acc>Gcc	p.T2111A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2111					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAGGCATGGTACTCTTGGCA	0.537			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				False	0	False	1:120459014	0	C	120459014	T	C	120459014	3	2	88	1	0	0	0	0	1	0	0	0	10616	1638	57	4	1088	4	NOTCH2	1	120459014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	836	120459014	128791607	957	8669											
NOTCH2	4853	broad.mit.edu	37	chr1	120466323	120466323	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctctgtttcttcataGcagctgacttctcaccataa	4	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120466323G>T	ENST00000256646.2	-	26	5015	c.4796C>A	c.(4795-4797)gCt>gAt	p.A1599D	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1599	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCTTCATAGCAGCTGACTT	0.517			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				False	0	False	1:120466323	0	T	120466323	G	T	120466323	3	4	88	1	0	0	0	0	1	0	0	0	10616	971	34	3	2655	3	NOTCH2	1	120466323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7309	120466323	128784298	958	8670											
NOTCH2	4853	broad.mit.edu	37	chr1	120483361	120483361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatcccatcaacacatgtGccaccattgaaacaggagct	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120483361G>A	ENST00000256646.2	-	19	3219	c.3000C>T	c.(2998-3000)ggC>ggT	p.G1000G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1000	EGF-like 26; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAACACATGTGCCACCATTGA	0.443			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				False	0	False	1:120483361	0	A	120483361	G	A	120483361	2	1	88	1	0	0	0	0	0	0	0	1	10616	1306	46	2		2	NOTCH2	1	120483361	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17038	120483361	128767260	959	8671											
NOTCH2	4853	broad.mit.edu	37	chr1	120506274	120506274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcgttcaggcaagggctgCtgtaacattcatcaatctgg	10	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120506274C>A	ENST00000256646.2	-	11	2057	c.1838G>T	c.(1837-1839)aGc>aTc	p.S613I		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	613	EGF-like 16; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAAGGGCTGCTGTAACATTC	0.527			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				False	0	False	1:120506274	0	A	120506274	C	A	120506274	3	1	88	1	0	0	0	0	1	0	0	0	10616	797	28	3	5673	3	NOTCH2	1	120506274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22913	120506274	128744347	960	8672											
FCGR1B	2210	broad.mit.edu	37	chr1	120930255	120930255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaggccagaggttctccttCcatgaagactctgctggaga	11	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120930255C>T	ENST00000369384.4	-	4	388	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	FCGR1B_ENST00000369383.4_Missense_Mutation_p.E24K|FCGR1B_ENST00000472543.1_5'UTR|RP11-439A17.9_ENST00000457996.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	116	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		GGTTCTCCTTCCATGAAGACT	0.463													False	0	False	1:120930255	0	T	120930255	C	T	120930255	3	4	88	1	0	0	0	0	1	0	0	0	5820	864	30	2	504	2	FCGR1B	1	120930255	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423981	120930255	128320366	961	8673											
PDE4DIP	9659	broad.mit.edu	37	chr1	144854181	144854181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctctaagttagtccttGccttctttaaaacatcatgt	4	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144854181G>A	ENST00000369359.4	-	46	7429	c.7391C>T	c.(7390-7392)gCa>gTa	p.A2464V	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2222V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2413V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2328V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2328V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2328					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTAGTCCTTGCCTTCTTTAA	0.463			T	PDGFRB	MPD								False	0	False	1:144854181	0	A	144854181	G	A	144854181	3	1	88	1	0	0	0	0	1	0	0	0	11711	1319	46	2	65	2	PDE4DIP	1	144854181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23923926	144854181	104396440	962	8674											
PDE4DIP	9659	broad.mit.edu	37	chr1	144855838	144855838	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctagggcatggtgcagggCactggtgctgctccgaagct	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144855838C>G	ENST00000369359.4	-	44	7161	c.7123G>C	c.(7123-7125)Gcc>Ccc	p.A2375P	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2133P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2324P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2239P|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2239P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2239					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGTGCAGGGCACTGGTGCTG	0.582			T	PDGFRB	MPD								False	0	True	1:144855838	0	G	144855838	C	G	144855838	3	3	88	1	0	0	0	0	1	0	0	0	11711	710	25	5	341	5	PDE4DIP	1	144855838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1657	144855838	104394783	963	8675											
PDE4DIP	9659	broad.mit.edu	37	chr1	144857634	144857634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgctctgttgattatgggCgtttctgagccaggagtaga	13	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144857634C>T	ENST00000369359.4	-	42	6866	c.6828G>A	c.(6826-6828)acG>acA	p.T2276T	PDE4DIP_ENST00000313382.9_Silent_p.T2034T|PDE4DIP_ENST00000530740.1_Silent_p.T2225T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Silent_p.T2140T|PDE4DIP_ENST00000369356.4_Silent_p.T2140T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2140					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGATTATGGGCGTTTCTGAGC	0.483			T	PDGFRB	MPD								False	0	True	1:144857634	0	T	144857634	C	T	144857634	2	4	88	1	0	0	0	0	0	0	0	1	11711	755	27	1		1	PDE4DIP	1	144857634	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1796	144857634	104392987	964	8676											
PDE4DIP	9659	broad.mit.edu	37	chr1	144863415	144863415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttctcttcacactgttgCtgcaggagaaccagcttgtg	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144863415C>T	ENST00000369359.4	-	40	6434	c.6396G>A	c.(6394-6396)caG>caA	p.Q2132Q	PDE4DIP_ENST00000313382.9_Silent_p.Q1890Q|PDE4DIP_ENST00000530740.1_Silent_p.Q2081Q|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Silent_p.Q1996Q|PDE4DIP_ENST00000369356.4_Silent_p.Q1996Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1996					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CACACTGTTGCTGCAGGAGAA	0.532			T	PDGFRB	MPD								False	0	False	1:144863415	0	T	144863415	C	T	144863415	2	4	88	1	0	0	0	0	0	0	0	1	11711	796	28	2		2	PDE4DIP	1	144863415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5781	144863415	104387206	965	8677											
PDE4DIP	9659	broad.mit.edu	37	chr1	144864303	144864303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcagagcctccctcaggCtttctgtttcctgggagtgc	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144864303C>A	ENST00000369359.4	-	39	6238	c.6200G>T	c.(6199-6201)aGc>aTc	p.S2067I	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1825I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2016I|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1931I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1931I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1931					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCCCTCAGGCTTTCTGTTTC	0.537			T	PDGFRB	MPD								False	0	True	1:144864303	0	A	144864303	C	A	144864303	3	1	88	1	0	0	0	0	1	0	0	0	11711	797	28	3	1284	3	PDE4DIP	1	144864303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	888	144864303	104386318	966	8678											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879119	144879119	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggcctccagctgggatactCtctggatgagactctccagg	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144879119C>A	ENST00000369359.4	-	30	4777	c.4739G>T	c.(4738-4740)aGa>aTa	p.R1580I	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1400I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1580I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1444I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1444I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1444	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGGGATACTCTCTGGATGAG	0.562			T	PDGFRB	MPD								False	0	True	1:144879119	0	A	144879119	C	A	144879119	3	1	88	1	0	0	0	0	1	0	0	0	11711	913	32	3	2781	3	PDE4DIP	1	144879119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14816	144879119	104371502	967	8679											
PDE4DIP	9659	broad.mit.edu	37	chr1	144882762	144882762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctctttggttaccacaGtctcaaccatcacctcgccc	5	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144882762G>A	ENST00000369359.4	-	27	3706	c.3668C>T	c.(3667-3669)aCt>aTt	p.T1223I	PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T1223I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.T1086I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T1086I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1086					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGTTACCACAGTCTCAACCAT	0.502			T	PDGFRB	MPD								False	0	False	1:144882762	0	A	144882762	G	A	144882762	3	1	88	1	0	0	0	0	1	0	0	0	11711	1029	36	2	3867	2	PDE4DIP	1	144882762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3643	144882762	104367859	968	8680											
PDE4DIP	9659	broad.mit.edu	37	chr1	144892214	144892214	+	Nonstop_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtaaaaatgcttctgaagCtatagctacagagaataaat	7	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144892214C>A	ENST00000313431.9	-	19	4055	c.3399G>T	c.(3397-3399)taG>taT	p.*1133Y	PDE4DIP_ENST00000369349.3_Nonstop_Mutation_p.*970Y|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369351.3_3'UTR|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron	NM_001002811.1	NP_001002811	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTCTGAAGCTATAGCTACA	0.458			T	PDGFRB	MPD								False	0	False	1:144892214	0	A	144892214	C	A	144892214	4	1	88	1	0	0	0	0	0	0	0	0	11711	808	28	3	4228	3	PDE4DIP	1	144892214	Nonstop_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9452	144892214	104358407	969	8681											
PDE4DIP	9659	broad.mit.edu	37	chr1	144917575	144917575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctctctcacagcaagaCgaagctggcgcagttctttt	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144917575C>T	ENST00000529945.1	-	8	2457	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R576H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R647H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R647H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R297H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R673H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R510H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R510H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	510					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R510H(1)|p.R673H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CACAGCAAGACGAAGCTGGCG	0.448			T	PDGFRB	MPD								False	0	False	1:144917575	0	T	144917575	C	T	144917575	3	4	88	1	0	0	0	0	1	0	0	0	11711	536	19	1	5653	1	PDE4DIP	1	144917575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25361	144917575	104333046	970	8682											
PDE4DIP	9659	broad.mit.edu	37	chr1	144930582	144930582	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actatgtagccgttttgtatAcctggacccggagcggcaaa	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144930582A>G	ENST00000529945.1	-	1	1565		c.e1+1		PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313431.9_Splice_Site|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGTTTTGTATACCTGGACCCG	0.483			T	PDGFRB	MPD								False	0	False	1:144930582	0	G	144930582	A	G	144930582	5	3	88	1	0	0	0	0	0	0	1	0	11711	405	14	4	6572	4	PDE4DIP	1	144930582	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13007	144930582	104320039	971	8683											
PDE4DIP	9659	broad.mit.edu	37	chr1	144946641	144946641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgcacttccatgctaGttggctcctccaacagatgt	7	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144946641G>A	ENST00000369359.4	-	8	1069	c.1031C>T	c.(1030-1032)aCt>aTt	p.T344I	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T273I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.T344I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.T207I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T207I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	207					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCCATGCTAGTTGGCTCCTC	0.443			T	PDGFRB	MPD								False	0	False	1:144946641	0	A	144946641	G	A	144946641	3	1	88	1	0	0	0	0	1	0	0	0	11711	1029	36	2	7719	2	PDE4DIP	1	144946641	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16059	144946641	104303980	972	8684											
PDE4DIP	9659	broad.mit.edu	37	chr1	144946699	144946699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgagatagctgttctacaaGcctctcctgggcagccaggc	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144946699G>T	ENST00000369359.4	-	8	1011	c.973C>A	c.(973-975)Ctt>Att	p.L325I	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L254I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L325I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L188I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L188I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	188					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTCTACAAGCCTCTCCTGG	0.433			T	PDGFRB	MPD								False	0	False	1:144946699	0	T	144946699	G	T	144946699	3	4	88	1	0	0	0	0	1	0	0	0	11711	971	34	3	7777	3	PDE4DIP	1	144946699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	144946699	104303922	973	8685											
PDE4DIP	9659	broad.mit.edu	37	chr1	144994627	144994627	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcccggctggcctcatacttCtgttgcatgcgctcctccag	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144994627C>T	ENST00000369359.4	-	4	554	c.516G>A	c.(514-516)caG>caA	p.Q172Q	PDE4DIP_ENST00000369347.4_Silent_p.Q35Q|PDE4DIP_ENST00000369348.3_Silent_p.Q172Q|PDE4DIP_ENST00000369349.3_Silent_p.Q35Q|PDE4DIP_ENST00000313382.9_Silent_p.Q101Q|PDE4DIP_ENST00000369351.3_Silent_p.Q35Q|PDE4DIP_ENST00000530740.1_Silent_p.Q172Q|PDE4DIP_ENST00000369354.3_Silent_p.Q35Q|PDE4DIP_ENST00000369356.4_Silent_p.Q35Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	35					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTCATACTTCTGTTGCATGC	0.597			T	PDGFRB	MPD								False	0	False	1:144994627	0	T	144994627	C	T	144994627	2	4	88	1	0	0	0	0	0	0	0	1	11711	912	32	2		2	PDE4DIP	1	144994627	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47928	144994627	104255994	974	8686											
SEC22B	9554	broad.mit.edu	37	chr1	145103941	145103941	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacagtatcagagtcagGctaagtaactctttcgaaag	8	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145103941G>A	ENST00000453618.1	+	0	436							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TCAGAGTCAGGCTAAGTAACT	0.403													False	0	False	1:145103941	0	A	145103941	G	A	145103941	1	1	88	0	1	0	0	0	0	0	0	0	14070	1203	42	2		2	SEC22B	1	145103941	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109314	145103941	104146680	975	8687											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273391	145273391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctgaatggcggcacatGccatatgctcagccgggata	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145273391G>A	ENST00000369340.3	+	4	689	c.245G>A	c.(244-246)tGc>tAc	p.C82Y	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C82Y|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C82Y|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C82Y			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	82	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GGCGGCACATGCCATATGCTC	0.527													False	0	False	1:145273391	0	A	145273391	G	A	145273391	3	1	88	1	0	0	0	0	1	0	0	0	10617	1319	46	2	251	2	NOTCH2NL	1	145273391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169450	145273391	103977230	976	8688											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145281532	145281532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacattccaggacactgccaGcatggtggcacctgcctcaa	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145281532G>T	ENST00000369340.3	+	5	906	c.462G>T	c.(460-462)caG>caT	p.Q154H	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.Q154H|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.Q154H|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.Q154H			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	154	EGF-like 5; calcium-binding (Potential).				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GACACTGCCAGCATGGTGGCA	0.567													False	0	False	1:145281532	0	T	145281532	G	T	145281532	3	4	88	1	0	0	0	0	1	0	0	0	10617	962	34	3	472	3	NOTCH2NL	1	145281532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8141	145281532	103969089	977	8689											
HFE2	148738	broad.mit.edu	37	chr1	145415658	145415658	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggttttcccggctgcatggTcgtcccccggggttcttgca	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145415658T>C	ENST00000336751.5	+	3	715	c.477T>C	c.(475-477)ggT>ggC	p.G159G	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Silent_p.G46G|HFE2_ENST00000497365.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	159					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTGCATGGTCGTCCCCCGG	0.687													False	0	False	1:145415658	0	C	145415658	T	C	145415658	2	2	88	1	0	0	0	0	0	0	0	1	7129	1654	58	4		4	HFE2	1	145415658	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	134126	145415658	103834963	978	8690											
HFE2	148738	broad.mit.edu	37	chr1	145416857	145416857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctcttcccctcagatgCtggggttcctctttcctcag	8	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145416857C>T	ENST00000336751.5	+	4	1440	c.1202C>T	c.(1201-1203)gCt>gTt	p.A401V	HFE2_ENST00000475797.1_Missense_Mutation_p.A175V|HFE2_ENST00000357836.5_Missense_Mutation_p.A288V|HFE2_ENST00000497365.1_Missense_Mutation_p.A175V	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	401					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCTCAGATGCTGGGGTTCCT	0.542													False	0	False	1:145416857	0	T	145416857	C	T	145416857	3	4	88	1	0	0	0	0	1	0	0	0	7129	797	28	2	1212	2	HFE2	1	145416857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1199	145416857	103833764	979	8691											
TXNIP	10628	broad.mit.edu	37	chr1	145438873	145438873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaaggtgtacggcagtgGcgagaaggtggctggccggg	20	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145438873G>A	ENST00000369317.4	+	1	405	c.71G>A	c.(70-72)gGc>gAc	p.G24D	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	24					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACGGCAGTGGCGAGAAGGTG	0.488													False	0	False	1:145438873	0	A	145438873	G	A	145438873	3	1	88	1	0	0	0	0	1	0	0	0	16887	1203	42	2	73	2	TXNIP	1	145438873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22016	145438873	103811748	980	8692											
ANKRD34A	284615	broad.mit.edu	37	chr1	145474082	145474082	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaactccgagccctggggcCtagtggcccctcctcaacca	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145474082C>A	ENST00000323397.4	+	4	2047	c.754C>A	c.(754-756)Cta>Ata	p.L252I		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	252	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGGGGCCTAGTGGCCCC	0.642													False	0	False	1:145474082	0	A	145474082	C	A	145474082	3	1	88	1	0	0	0	0	1	0	0	0	662	680	24	3	756	3	ANKRD34A	1	145474082	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35209	145474082	103776539	981	8693											
RBM8A	9939	broad.mit.edu	37	chr1	145508545	145508545	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagacatacacgacaaAttcgcagaatatggggaaat	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145508545A>C	ENST00000330165.8	+	4	345	c.276A>C	c.(274-276)aaA>aaC	p.K92N	RBM8A_ENST00000369307.3_Missense_Mutation_p.K91N	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A		RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACACGACAAATTCGCAGAAT	0.453													False	0	True	1:145508545	0	C	145508545	A	C	145508545	3	2	88	1	0	0	0	0	1	0	0	0	13225	98	4	4	290	4	RBM8A	1	145508545	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34463	145508545	103742076	982	8694											
ITGA10	8515	broad.mit.edu	37	chr1	145536894	145536894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggccttgactgtgacCtttgccttggacaatactac	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145536894C>T	ENST00000369304.3	+	18	2449	c.2274C>T	c.(2272-2274)acC>acT	p.T758T	ITGA10_ENST00000538811.1_Silent_p.T627T|ITGA10_ENST00000539363.1_Silent_p.T615T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	758					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGACTGTGACCTTTGCCTTGG	0.507													False	0	True	1:145536894	0	T	145536894	C	T	145536894	2	4	88	1	0	0	0	0	0	0	0	1	7923	668	24	2		2	ITGA10	1	145536894	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28349	145536894	103713727	983	8695											
ANKRD35	148741	broad.mit.edu	37	chr1	145561096	145561096	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctattctgtttccaacatagGcctctccatctgagccccag	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145561096G>A	ENST00000355594.4	+	10	871	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	262										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCAACATAGGCCTCTCCATC	0.527													False	0	False	1:145561096	0	A	145561096	G	A	145561096	5	1	88	1	0	0	0	0	0	0	1	0	664	1217	42	2	822	2	ANKRD35	1	145561096	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24202	145561096	103689525	984	8696											
PIAS3	10401	broad.mit.edu	37	chr1	145584278	145584278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctcagctgccatcccgGccctacctggaagcaaaggg	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145584278G>A	ENST00000393045.2	+	11	1519	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	PIAS3_ENST00000369298.1_Missense_Mutation_p.A442T	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	477					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCATCCCGGCCCTACCTGG	0.488													False	0	True	1:145584278	0	A	145584278	G	A	145584278	3	1	88	1	0	0	0	0	1	0	0	0	11946	1203	42	2	1471	2	PIAS3	1	145584278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23182	145584278	103666343	985	8697											
NUDT17	200035	broad.mit.edu	37	chr1	145587350	145587350	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagaagctcttacttacaGgacagagggtggtaggtcct	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145587350G>A	ENST00000334513.5	-	6	741	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F		NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	244							hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTACTTACAGGACAGAGGGT	0.522													False	0	False	1:145587350	0	A	145587350	G	A	145587350	5	1	88	1	0	0	0	0	0	0	1	0	10802	1014	35	2	268	2	NUDT17	1	145587350	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3072	145587350	103663271	986	8698											
RNF115	27246	broad.mit.edu	37	chr1	145663313	145663313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacggttgccattgggtcGgagatacagatctcgaggaa	13	9	1	2	rs148749353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145663313G>A	ENST00000369291.5	+	4	578	c.374G>A	c.(373-375)cGg>cAg	p.R125Q		NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN	ring finger protein 115						protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CCATTGGGTCGGAGATACAGA	0.458													False	0	False	1:145663313	0	A	145663313	G	A	145663313	3	1	88	1	0	0	0	0	1	0	0	0	13509	1116	39	1	388	1	RNF115	1	145663313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75963	145663313	103587308	987	8699											
CD160	11126	broad.mit.edu	37	chr1	145704275	145704275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcctcttctttcttatGccatacagtacagattaagt	5	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145704275G>A	ENST00000235933.6	-	2	244	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	CD160_ENST00000369290.1_Intron|CD160_ENST00000369288.2_Missense_Mutation_p.H48Y|CD160_ENST00000401557.3_Missense_Mutation_p.H48Y			O95971	BY55_HUMAN	CD160 molecule	48	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TCTTTCTTATGCCATACAGTA	0.448													False	0	False	1:145704275	0	A	145704275	G	A	145704275	3	1	88	1	0	0	0	0	1	0	0	0	2989	1319	46	2	415	2	CD160	1	145704275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40962	145704275	103546346	988	8700											
PDZK1	5174	broad.mit.edu	37	chr1	145748564	145748564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaaggaggcagctatgGcttctctctgaaaactgtcc	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145748564G>A	ENST00000344770.2	+	3	510	c.437G>A	c.(436-438)gGc>gAc	p.G146D	PDZK1_ENST00000451928.2_Missense_Mutation_p.G146D|PDZK1_ENST00000417171.1_Missense_Mutation_p.G146D	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	146	PDZ 2.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GGCAGCTATGGCTTCTCTCTG	0.522													False	0	False	1:145748564	0	A	145748564	G	A	145748564	3	1	88	1	0	0	0	0	1	0	0	0	11775	1203	42	2	443	2	PDZK1	1	145748564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44289	145748564	103502057	989	8701											
PRKAB2	5565	broad.mit.edu	37	chr1	146631222	146631222	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaaggaccatcacactgtcCtgcaaggaaaagaaacatac	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146631222C>A	ENST00000254101.3	-	8	880		c.e8-1		PRKAB2_ENST00000425272.2_Splice_Site|PRKAB2_ENST00000496858.1_Splice_Site	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit						carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	TCACACTGTCCTGCAAGGAAA	0.438													False	0	False	1:146631222	0	A	146631222	C	A	146631222	5	1	88	1	0	0	0	0	0	0	1	0	12572	695	24	3	81	3	PRKAB2	1	146631222	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	882658	146631222	102619399	990	8702											
PRKAB2	5565	broad.mit.edu	37	chr1	146643671	146643671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgccctcggagcgtgcaGccttggcgccgtggcgctcc	15	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146643671G>A	ENST00000254101.3	-	2	191	c.53C>T	c.(52-54)gCt>gTt	p.A18V	PRKAB2_ENST00000425272.2_5'UTR	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	18					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	GGAGCGTGCAGCCTTGGCGCC	0.701													False	0	False	1:146643671	0	A	146643671	G	A	146643671	3	1	88	1	0	0	0	0	1	0	0	0	12572	971	34	2	793	2	PRKAB2	1	146643671	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12449	146643671	102606950	991	8703											
FMO5	2330	broad.mit.edu	37	chr1	146672826	146672826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctatgattgcaagagttGgcctttccaggttaggaggg	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146672826G>A	ENST00000254090.4	-	7	1479	c.1091C>T	c.(1090-1092)cCa>cTa	p.P364L	RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000369272.3_Intron|FMO5_ENST00000441068.2_Missense_Mutation_p.P364L|RP11-337C18.8_ENST00000606757.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	364						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TGCAAGAGTTGGCCTTTCCAG	0.453													False	0	False	1:146672826	0	A	146672826	G	A	146672826	3	1	88	1	0	0	0	0	1	0	0	0	5998	1348	47	2	665	2	FMO5	1	146672826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29155	146672826	102577795	992	8704											
CHD1L	9557	broad.mit.edu	37	chr1	146731508	146731508	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagattcccttggagtgttcTtgttgtggatgaagctcaca	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146731508T>G	ENST00000369258.4	+	6	532	c.512T>G	c.(511-513)cTt>cGt	p.L171R	CHD1L_ENST00000431239.1_Missense_Mutation_p.L171R|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Intron	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	171	Helicase ATP-binding.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TGGAGTGTTCTTGTTGTGGAT	0.378													False	0	False	1:146731508	0	G	146731508	T	G	146731508	3	3	88	1	0	0	0	0	1	0	0	0	3347	1609	56	4	534	4	CHD1L	1	146731508	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	58682	146731508	102519113	993	8705											
CHD1L	9557	broad.mit.edu	37	chr1	146766148	146766148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttttaactggtatggtaCtgagcgacttattcggaaac	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146766148C>T	ENST00000369258.4	+	22	2584	c.2564C>T	c.(2563-2565)aCt>aTt	p.T855I	CHD1L_ENST00000431239.1_Missense_Mutation_p.T761I|CHD1L_ENST00000361293.5_Missense_Mutation_p.T574I|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.T651I	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	855	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TGGTATGGTACTGAGCGACTT	0.418													False	0	False	1:146766148	0	T	146766148	C	T	146766148	3	4	88	1	0	0	0	0	1	0	0	0	3347	565	20	2	2650	2	CHD1L	1	146766148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34640	146766148	102484473	994	8706											
BCL9	607	broad.mit.edu	37	chr1	147092306	147092306	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggagtatggcatgggccccaGaccattccttcccatgtctc	10	14	1	1	rs34002844		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147092306G>T	ENST00000234739.3	+	8	3085	c.2345G>T	c.(2344-2346)aGa>aTa	p.R782I		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	782	Pro-rich.		R -> K (in dbSNP:rs34002844).		Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATGGGCCCCAGACCATTCCTT	0.582			T	"IGH@, IGL@"	B-ALL								False	0	False	1:147092306	0	T	147092306	G	T	147092306	3	4	88	1	0	0	0	0	1	0	0	0	1385	942	33	3	2363	3	BCL9	1	147092306	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326158	147092306	102158315	995	8707											
GJA5	2702	broad.mit.edu	37	chr1	147230480	147230480	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggttgtctgtgttttgttgGgaggccatattattgctgaa	13	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147230480G>T	ENST00000271348.2	-	2	1028	c.867C>A	c.(865-867)tcC>tcA	p.S289S	GJA5_ENST00000369237.1_Silent_p.S289S|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	289					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.S289S(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGTTTTGTTGGGAGGCCATAT	0.532													False	0	True	1:147230480	0	T	147230480	G	T	147230480	2	4	88	1	0	0	0	0	0	0	0	1	6449	1219	43	3		3	GJA5	1	147230480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138174	147230480	102020141	996	8708											
GJA8	2703	broad.mit.edu	37	chr1	147380546	147380546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggacctacatctgccacaTcatcttcaagaccctctttg	6	14	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147380546T>C	ENST00000240986.4	+	2	517	c.464T>C	c.(463-465)aTc>aCc	p.I155T	GJA8_ENST00000369235.1_Missense_Mutation_p.I155T	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	155					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					ATCTGCCACATCATCTTCAAG	0.617													False	0	False	1:147380546	0	C	147380546	T	C	147380546	3	2	88	1	0	0	0	0	1	0	0	0	6450	1435	50	4	466	4	GJA8	1	147380546	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	150066	147380546	101870075	997	8709											
GJA8	2703	broad.mit.edu	37	chr1	147380849	147380849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatccctccactccattgCtgtctcctccatccagaaag	5	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147380849C>T	ENST00000240986.4	+	2	820	c.767C>T	c.(766-768)gCt>gTt	p.A256V	GJA8_ENST00000369235.1_Missense_Mutation_p.A256V	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	256					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CACTCCATTGCTGTCTCCTCC	0.562													False	0	False	1:147380849	0	T	147380849	C	T	147380849	3	4	88	1	0	0	0	0	1	0	0	0	6450	797	28	2	769	2	GJA8	1	147380849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	303	147380849	101869772	998	8710											
GJA8	2703	broad.mit.edu	37	chr1	147381090	147381090	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtggagggcgaggggccGcctgcagaggagggagccga	22	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147381090G>A	ENST00000240986.4	+	2	1061	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	GJA8_ENST00000369235.1_Silent_p.P336P	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	336					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCGAGGGGCCGCCTGCAGAGG	0.657													False	0	False	1:147381090	0	A	147381090	G	A	147381090	2	1	88	1	0	0	0	0	0	0	0	1	6450	1074	38	1		1	GJA8	1	147381090	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241	147381090	101869531	999	8711											
GJA8	2703	broad.mit.edu	37	chr1	147381177	147381177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagcaggagaaggtggcCgtgccagagggggagaaagt	21	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147381177C>T	ENST00000240986.4	+	2	1148	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	GJA8_ENST00000369235.1_Silent_p.A365A	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	365					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.A365A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGAAGGTGGCCGTGCCAGAGG	0.627													False	0	False	1:147381177	0	T	147381177	C	T	147381177	2	4	88	1	0	0	0	0	0	0	0	1	6450	639	23	1		1	GJA8	1	147381177	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	147381177	101869444	1000	8712											
NBPF14	25832	broad.mit.edu	37	chr1	148004691	148004691	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttctgtagtgctggaatgAgtcaggtagttcaaagtaca	11	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148004691A>G	ENST00000369219.1	-	22	2639	c.2623T>C	c.(2623-2625)Tca>Cca	p.S875P				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	875	NBPF 10.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGCTGGAATGAGTCAGGTAGT	0.438													False	0	False	1:148004691	0	G	148004691	A	G	148004691	3	3	88	1	0	0	0	0	1	0	0	0	10262	304	11	4	146	4	NBPF14	1	148004691	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	623514	148004691	101245930	1001	8713											
NBPF14	25832	broad.mit.edu	37	chr1	148009417	148009417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctgtagggctggcatgaGtcagtcagttcaagacaacc	11	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148009417G>T	ENST00000369219.1	-	16	1906	c.1890C>A	c.(1888-1890)gaC>gaA	p.D630E				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	630	NBPF 7.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GCTGGCATGAGTCAGTCAGTT	0.483													False	0	True	1:148009417	0	T	148009417	G	T	148009417	3	4	88	1	0	0	0	0	1	0	0	0	10262	1020	36	3	903	3	NBPF14	1	148009417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4726	148009417	101241204	1002	8714											
NBPF14	25832	broad.mit.edu	37	chr1	148017572	148017572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgctgtaagacttgtaCgaggccaacatttcaggagg	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148017572C>T	ENST00000369219.1	-	6	727	c.711G>A	c.(709-711)tcG>tcA	p.S237S				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	237	NBPF 2.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AAGACTTGTACGAGGCCAACA	0.478													False	0	False	1:148017572	0	T	148017572	C	T	148017572	2	4	88	1	0	0	0	0	0	0	0	1	10262	523	19	1		1	NBPF14	1	148017572	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8155	148017572	101233049	1003	8715											
FCGR1A	2209	broad.mit.edu	37	chr1	149759933	149759933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttttcaggctggctactaCtgcaggtctccagcagagtc	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149759933C>A	ENST00000369168.4	+	4	373	c.319C>A	c.(319-321)Ctg>Atg	p.L107M	HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	107	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTGGCTACTACTGCAGGTCTC	0.483													False	0	False	1:149759933	0	A	149759933	C	A	149759933	3	1	88	1	0	0	0	0	1	0	0	0	5819	564	20	3	333	3	FCGR1A	1	149759933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1742361	149759933	99490688	1004	8716											
BOLA1	51027	broad.mit.edu	37	chr1	149871987	149871987	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagctggacactagccccccAtgcctgggtgggaacaagaa	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149871987A>G	ENST00000369153.2	+	3	1039	c.375A>G	c.(373-375)ccA>ccG	p.P125P	BOLA1_ENST00000369150.1_Silent_p.P125P|BOLA1_ENST00000369152.5_Silent_p.P125P|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	125						extracellular region	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CTAGCCCCCCATGCCTGGGTG	0.637													False	0	True	1:149871987	0	G	149871987	A	G	149871987	2	3	88	1	0	0	0	0	0	0	0	1	1490	204	8	4		4	BOLA1	1	149871987	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112054	149871987	99378634	1005	8717											
MTMR11	10903	broad.mit.edu	37	chr1	149906095	149906095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatcacctggtggctacGtcgaacctctcgttgaccgt	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149906095G>A	ENST00000439741.2	-	7	922	c.672C>T	c.(670-672)gaC>gaT	p.D224D	MTMR11_ENST00000369140.3_Silent_p.D152D|MTMR11_ENST00000406732.3_Silent_p.D196D|MTMR11_ENST00000361405.6_Silent_p.D224D|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	224	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGGTGGCTACGTCGAACCTCT	0.572													False	0	False	1:149906095	0	A	149906095	G	A	149906095	2	1	88	1	0	0	0	0	0	0	0	1	10007	1136	40	1		1	MTMR11	1	149906095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34108	149906095	99344526	1006	8718											
OTUD7B	56957	broad.mit.edu	37	chr1	149916165	149916165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcctccggggttcctggCagtggactccgcccccagac	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149916165C>T	ENST00000369135.4	-	12	2417	c.2123G>A	c.(2122-2124)tGc>tAc	p.C708Y		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GGGTTCCTGGCAGTGGACTCC	0.662													False	0	False	1:149916165	0	T	149916165	C	T	149916165	3	4	88	1	0	0	0	0	1	0	0	0	11387	710	25	2	412	2	OTUD7B	1	149916165	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10070	149916165	99334456	1007	8719											
OTUD7B	56957	broad.mit.edu	37	chr1	149939346	149939346	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgggcatttccagggggtgCtcattgctccccccaccccc	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939346C>A	ENST00000369135.4	-	4	669	c.375G>T	c.(373-375)gaG>gaT	p.E125D	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCAGGGGGTGCTCATTGCTCC	0.557													False	0	False	1:149939346	0	A	149939346	C	A	149939346	3	1	88	1	0	0	0	0	1	0	0	0	11387	796	28	3	2192	3	OTUD7B	1	149939346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23181	149939346	99311275	1008	8720											
OTUD7B	56957	broad.mit.edu	37	chr1	149939428	149939428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagctggcgtgggagatgCccctagacaggcgtttttct	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939428C>T	ENST00000369135.4	-	4	587	c.293G>A	c.(292-294)gGc>gAc	p.G98D	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTGGGAGATGCCCCTAGACAG	0.552													False	0	True	1:149939428	0	T	149939428	C	T	149939428	3	4	88	1	0	0	0	0	1	0	0	0	11387	739	26	2	2274	2	OTUD7B	1	149939428	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82	149939428	99311193	1009	8721											
APH1A	51107	broad.mit.edu	37	chr1	150240131	150240131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccataggccatctggcGgatggagatgggtgatcttc	13	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150240131G>A	ENST00000360244.4	-	3	835	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	APH1A_ENST00000369109.3_Missense_Mutation_p.R115C|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Intron	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	115					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCATCTGGCGGATGGAGATG	0.582													False	0	False	1:150240131	0	A	150240131	G	A	150240131	3	1	88	1	0	0	0	0	1	0	0	0	773	1116	39	1	485	1	APH1A	1	150240131	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300703	150240131	99010490	1010	8722											
APH1A	51107	broad.mit.edu	37	chr1	150240145	150240145	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctggcggatggagatgggtGatcttccgtcctcactcagc	13	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150240145G>A	ENST00000360244.4	-	3	821	c.329C>T	c.(328-330)tCa>tTa	p.S110L	APH1A_ENST00000369109.3_Missense_Mutation_p.S110L|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Intron	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	110					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGATGGGTGATCTTCCGTC	0.592													False	0	False	1:150240145	0	A	150240145	G	A	150240145	3	1	88	1	0	0	0	0	1	0	0	0	773	1294	45	2	499	2	APH1A	1	150240145	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	150240145	99010476	1011	8723											
C1orf51	148523	broad.mit.edu	37	chr1	150255695	150255695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatggattctccatctagCgtttcttcctattcctccta	4	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150255695C>T	ENST00000290363.5	+	1	467	c.18C>T	c.(16-18)agC>agT	p.S6S	C1orf51_ENST00000369095.1_Silent_p.S6S|C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Intron	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	6	Ser-rich.									endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCATCTAGCGTTTCTTCCT	0.512													False	0	False	1:150255695	0	T	150255695	C	T	150255695	2	4	88	1	0	0	0	0	0	0	0	1	2059	767	27	1		1	C1orf51	1	150255695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15550	150255695	98994926	1012	8724											
MRPS21	54460	broad.mit.edu	37	chr1	150280587	150280587	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatgaaaggtgccggcggatCtacaacatggaaatggctcg	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150280587C>A	ENST00000369084.5	+	2	636	c.189C>A	c.(187-189)atC>atA	p.I63I	MRPS21_ENST00000309092.7_Silent_p.I63I	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	63					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCGGCGGATCTACAACATGG	0.552													False	0	False	1:150280587	0	A	150280587	C	A	150280587	2	1	88	1	0	0	0	0	0	0	0	1	9899	903	32	3		3	MRPS21	1	150280587	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24892	150280587	98970034	1013	8725											
PRPF3	9129	broad.mit.edu	37	chr1	150298269	150298269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggacaaactgtttgaggCtgtggaggaaggccgaagct	16	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150298269C>T	ENST00000324862.6	+	3	371	c.206C>T	c.(205-207)gCt>gTt	p.A69V	PRPF3_ENST00000414970.2_Missense_Mutation_p.A69V|PRPF3_ENST00000543398.1_5'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	69	PWI.				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTGTTTGAGGCTGTGGAGGAA	0.458													False	0	False	1:150298269	0	T	150298269	C	T	150298269	3	4	88	1	0	0	0	0	1	0	0	0	12641	797	28	2	212	2	PRPF3	1	150298269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17682	150298269	98952352	1014	8726											
PRPF3	9129	broad.mit.edu	37	chr1	150307598	150307598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcagaagacatggaatcCaataccttttttgacccccg	6	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150307598C>T	ENST00000324862.6	+	7	1086	c.921C>T	c.(919-921)tcC>tcT	p.S307S	PRPF3_ENST00000414970.2_Silent_p.S258S|PRPF3_ENST00000543398.1_Silent_p.S172S|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	307					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACATGGAATCCAATACCTTTT	0.463													False	0	False	1:150307598	0	T	150307598	C	T	150307598	2	4	88	1	0	0	0	0	0	0	0	1	12641	581	21	2		2	PRPF3	1	150307598	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9329	150307598	98943023	1015	8727											
PRPF3	9129	broad.mit.edu	37	chr1	150312898	150312898	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaaatcccaagagagaAgattattttggaatcacaaa	9	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150312898A>C	ENST00000324862.6	+	9	1392	c.1227A>C	c.(1225-1227)gaA>gaC	p.E409D	PRPF3_ENST00000414970.2_Missense_Mutation_p.E360D|PRPF3_ENST00000543398.1_Silent_p.R273R|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	409					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CCAAGAGAGAAGATTATTTTG	0.388													False	0	True	1:150312898	0	C	150312898	A	C	150312898	3	2	88	1	0	0	0	0	1	0	0	0	12641	69	3	4	1257	4	PRPF3	1	150312898	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5300	150312898	98937723	1016	8728											
TARS2	80222	broad.mit.edu	37	chr1	150470161	150470161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccagctcccagagtgaCgattctaccaggcatatcac	7	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150470161C>T	ENST00000369064.3	+	10	1210	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D	TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Silent_p.D262D|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000606933.1_Silent_p.D310D	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	392					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCCAGAGTGACGATTCTACCA	0.547													False	0	False	1:150470161	0	T	150470161	C	T	150470161	2	4	88	1	0	0	0	0	0	0	0	1	15642	535	19	1		1	TARS2	1	150470161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157263	150470161	98780460	1017	8729											
ECM1	1893	broad.mit.edu	37	chr1	150483559	150483559	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tccctggaacctaccacagtCcagctactcccacctcactc	4	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150483559C>A	ENST00000369047.4	+	6	718	c.593C>A	c.(592-594)tCc>tAc	p.S198Y	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.S225Y|ECM1_ENST00000346569.6_Missense_Mutation_p.S198Y	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	198	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTACCACAGTCCAGCTACTCC	0.572													False	0	False	1:150483559	0	A	150483559	C	A	150483559	3	1	88	1	0	0	0	0	1	0	0	0	4927	855	30	3	615	3	ECM1	1	150483559	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13398	150483559	98767062	1018	8730											
ECM1	1893	broad.mit.edu	37	chr1	150485713	150485713	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacttttctcattcatcagAaattaaccttcatcaatgat	2	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150485713A>C	ENST00000369047.4	+	10	1518	c.1393A>C	c.(1393-1395)Aaa>Caa	p.K465Q	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Splice_Site_p.K492Q|ECM1_ENST00000346569.6_Splice_Site_p.K340Q	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	465					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CATTCATCAGAAATTAACCTT	0.493													False	0	True	1:150485713	0	C	150485713	A	C	150485713	5	2	88	1	0	0	0	0	0	0	1	0	4927	260	9	4	1431	4	ECM1	1	150485713	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2154	150485713	98764908	1019	8731											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150525688	150525688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgaggtcccgcttcccaCctagggagagaggagaccca	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525688C>T	ENST00000271643.4	+	5	629	c.393C>T	c.(391-393)caC>caT	p.H131H	ADAMTSL4_ENST00000369041.5_Silent_p.H131H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Silent_p.H131H|ADAMTSL4_ENST00000369038.2_Silent_p.H131H	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	131					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGCTTCCCACCTAGGGAGAG	0.642													False	0	False	1:150525688	0	T	150525688	C	T	150525688	2	4	88	1	0	0	0	0	0	0	0	1	277	506	18	2		2	ADAMTSL4	1	150525688	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39975	150525688	98724933	1020	8732											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150525719	150525719	+	Missense_Mutation	SNP	G	G	T													aggagacccaggagattcgaGcggccaggaggtgagaggcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525719G>T	ENST00000271643.4	+	5	660	c.424G>T	c.(424-426)Gcg>Tcg	p.A142S	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A142S|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A142S|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.A142S	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	142					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGAGATTCGAGCGGCCAGGAG	0.632													False	0	False	1:150525719	0	T	150525719	G	T	150525719	3	4	88	1	0	0	0	0	1	0	0	0	277	971	34	3	434	3	ADAMTSL4	1	150525719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	150525719	98724902	1021	8733	144	2									
ADAMTSL4	54507	broad.mit.edu	37	chr1	150525729	150525729	+	Splice_Site	SNP	G	G	T													ggagattcgagcggccaggaGgtgagaggcctgggtggaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525729G>T	ENST00000271643.4	+	5	670	c.434G>T	c.(433-435)aGg>aTg	p.R145M	ADAMTSL4_ENST00000369041.5_Splice_Site_p.R145M|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Splice_Site_p.R145M|ADAMTSL4_ENST00000369038.2_Splice_Site_p.R145M	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	145					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCGGCCAGGAGGTGAGAGGCC	0.632													False	0	False	1:150525729	0	T	150525729	G	T	150525729	5	4	88	1	0	0	0	0	0	0	1	0	277	1014	35	3	444	3	ADAMTSL4	1	150525729	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	150525729	98724892	1022	8734	144	2									
MCL1	4170	broad.mit.edu	37	chr1	150551721	150551721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggcgcgaagaaaagcaGcctcgcgggggtcgcggtga	20	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150551721G>A	ENST00000369026.2	-	1	345	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	MCL1_ENST00000307940.3_Silent_p.L96L	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	96					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAGAAAAGCAGCCTCGCGGGG	0.741													False	0	False	1:150551721	0	A	150551721	G	A	150551721	2	1	88	1	0	0	0	0	0	0	0	1	9451	962	34	2		2	MCL1	1	150551721	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25992	150551721	98698900	1023	8735											
ENSA	2029	broad.mit.edu	37	chr1	150598174	150598174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcagatcctgtggggtGgggatgtgatcaccagtcac	17	8	2	2	rs141017549	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150598174G>A	ENST00000271690.8	-	3	400	c.294C>T	c.(292-294)ccC>ccT	p.P98P	ENSA_ENST00000369016.4_Silent_p.P114P|ENSA_ENST00000503241.1_Silent_p.P114P|ENSA_ENST00000513281.1_Silent_p.P94P|ENSA_ENST00000339643.5_Silent_p.P114P|ENSA_ENST00000361631.5_Silent_p.P110P|ENSA_ENST00000369014.5_Silent_p.P98P|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000356527.5_Silent_p.P121P|ENSA_ENST00000369009.3_Silent_p.P121P|ENSA_ENST00000503345.1_3'UTR|ENSA_ENST00000361532.5_Silent_p.P94P	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	endosulfine alpha	98					cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGTGGGGTGGGGATGTGAT	0.567													False	0	True	1:150598174	0	A	150598174	G	A	150598174	2	1	88	1	0	0	0	0	0	0	0	1	5168	1335	47	2		2	ENSA	1	150598174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46453	150598174	98652447	1024	8736											
GOLPH3L	55204	broad.mit.edu	37	chr1	150620874	150620874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtcccttccacttcagggtCcagttctactaagtccttgg	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150620874C>T	ENST00000271732.3	-	5	825	c.781G>A	c.(781-783)Gac>Aac	p.D261N	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.D217N	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	261						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTCAGGGTCCAGTTCTACT	0.488													False	0	False	1:150620874	0	T	150620874	C	T	150620874	3	4	88	1	0	0	0	0	1	0	0	0	6614	855	30	2	80	2	GOLPH3L	1	150620874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22700	150620874	98629747	1025	8737											
CTSS	1520	broad.mit.edu	37	chr1	150720331	150720331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatgattcacattctgaGtacaggatggttcatagtag	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150720331G>A	ENST00000368985.3	-	7	1078	c.818C>T	c.(817-819)aCt>aTt	p.T273I	CTSS_ENST00000448301.2_Missense_Mutation_p.T223I|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	273					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CACATTCTGAGTACAGGATGG	0.343													False	0	False	1:150720331	0	A	150720331	G	A	150720331	3	1	88	1	0	0	0	0	1	0	0	0	4066	1029	36	2	185	2	CTSS	1	150720331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99457	150720331	98530290	1026	8738											
CTSS	1520	broad.mit.edu	37	chr1	150724344	150724344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcatgaagccaccattGcagcctttgtttccatattt	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150724344G>A	ENST00000368985.3	-	5	800	c.540C>T	c.(538-540)tgC>tgT	p.C180C	CTSS_ENST00000448301.2_Silent_p.C130C|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	180					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCACCATTGCAGCCTTTGT	0.488													False	0	False	1:150724344	0	A	150724344	G	A	150724344	2	1	88	1	0	0	0	0	0	0	0	1	4066	1311	46	2		2	CTSS	1	150724344	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4013	150724344	98526277	1027	8739											
SETDB1	9869	broad.mit.edu	37	chr1	150915038	150915038	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataactttgcttcttctataGgaaccttgagtcagatgtct	7	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150915038G>T	ENST00000271640.5	+	6	737		c.e6-1		SETDB1_ENST00000368969.4_Splice_Site|SETDB1_ENST00000368962.2_Splice_Site|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368963.1_Splice_Site	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCTTCTATAGGAACCTTGAG	0.423													False	0	False	1:150915038	0	T	150915038	G	T	150915038	5	4	88	1	0	0	0	0	0	0	1	0	14219	1014	35	3	565	3	SETDB1	1	150915038	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190694	150915038	98335583	1028	8740											
ANXA9	8416	broad.mit.edu	37	chr1	150957102	150957102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggccattgaaattcttgCcactcgaaccccaccccagc	7	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150957102C>T	ENST00000368947.4	+	7	898	c.422C>T	c.(421-423)gCc>gTc	p.A141V		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	141					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAAATTCTTGCCACTCGAACC	0.537													False	0	False	1:150957102	0	T	150957102	C	T	150957102	3	4	88	1	0	0	0	0	1	0	0	0	727	739	26	2	440	2	ANXA9	1	150957102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42064	150957102	98293519	1029	8741											
C1orf56	54964	broad.mit.edu	37	chr1	151021076	151021076	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaagccttgcacctatcaAcaatgtccctgcaaccgact	5	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151021076A>G	ENST00000368926.5	+	1	861	c.753A>G	c.(751-753)caA>caG	p.Q251Q	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	251						extracellular region		p.Q251Q(1)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCACCTATCAACAATGTCCCT	0.617											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:151021076	0	G	151021076	A	G	151021076	2	3	88	1	0	0	0	0	0	0	0	1	2064	40	2	4		4	C1orf56	1	151021076	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63974	151021076	98229545	1030	8742											
SEMA6C	10500	broad.mit.edu	37	chr1	151105814	151105814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcggagggagagagggcGcgggagccccggagtctcga	20	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151105814G>A	ENST00000341697.3	-	19	3630	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	647						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGAGAGGGCGCGGGAGCCCC	0.721													False	0	False	1:151105814	0	A	151105814	G	A	151105814	3	1	88	1	0	0	0	0	1	0	0	0	14122	1087	38	1	857	1	SEMA6C	1	151105814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84738	151105814	98144807	1031	8743											
SEMA6C	10500	broad.mit.edu	37	chr1	151115025	151115025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggggtcctggggaaaggCggcctgagtatggggaagtg	22	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151115025C>T	ENST00000341697.3	-	3	1764	c.73G>A	c.(73-75)Gcc>Acc	p.A25T				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	25						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGGGAAAGGCGGCCTGAGTA	0.607													False	0	False	1:151115025	0	T	151115025	C	T	151115025	3	4	88	1	0	0	0	0	1	0	0	0	14122	768	27	1	2887	1	SEMA6C	1	151115025	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9211	151115025	98135596	1032	8744											
ZNF687	57592	broad.mit.edu	37	chr1	151259046	151259046	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaacactgtgtgtcccgaGcagtctgaggccctggctgg	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151259046G>T	ENST00000368879.2	+	2	377	c.279G>T	c.(277-279)gaG>gaT	p.E93D		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTGTCCCGAGCAGTCTGAGG	0.602													False	0	False	1:151259046	0	T	151259046	G	T	151259046	3	4	88	1	0	0	0	0	1	0	0	0	18175	962	34	3	281	3	ZNF687	1	151259046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144021	151259046	97991575	1033	8745											
ZNF687	57592	broad.mit.edu	37	chr1	151262958	151262958	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccgcctgatcctagagaAacatgtccaggtccggcacg	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151262958A>C	ENST00000368879.2	+	8	3287	c.3189A>C	c.(3187-3189)gaA>gaC	p.E1063D		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATCCTAGAGAAACATGTCCAG	0.637													False	0	True	1:151262958	0	C	151262958	A	C	151262958	3	2	88	1	0	0	0	0	1	0	0	0	18175	14	1	4	3154	4	ZNF687	1	151262958	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3912	151262958	97987663	1034	8746											
RFX5	5993	broad.mit.edu	37	chr1	151316355	151316355	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggttacttctgggcccatttCtggctgaagtggggaaggac	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151316355C>A	ENST00000290524.4	-	9	737	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	RFX5_ENST00000452671.2_Nonsense_Mutation_p.E187*|RFX5_ENST00000452513.2_Nonsense_Mutation_p.E147*|RFX5_ENST00000368870.2_Nonsense_Mutation_p.E187*	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	187						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCCCATTTCTGGCTGAAGT	0.532													False	0	True	1:151316355	0	A	151316355	C	A	151316355	4	1	88	1	0	0	0	0	0	1	0	0	13345	922	32	3	1303	3	RFX5	1	151316355	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53397	151316355	97934266	1035	8747											
POGZ	23126	broad.mit.edu	37	chr1	151377699	151377699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcaggaagttcttgacaGttcttttgatgcatacatct	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151377699G>A	ENST00000271715.2	-	19	4126	c.3812C>T	c.(3811-3813)aCt>aTt	p.T1271I	POGZ_ENST00000368863.2_Missense_Mutation_p.T1176I|POGZ_ENST00000491586.1_Missense_Mutation_p.T1227I|POGZ_ENST00000361398.3_Missense_Mutation_p.T1218I|POGZ_ENST00000540984.1_Missense_Mutation_p.T633I|POGZ_ENST00000531094.1_Missense_Mutation_p.T1209I|POGZ_ENST00000392723.1_Missense_Mutation_p.T1218I|POGZ_ENST00000409503.1_Missense_Mutation_p.T1262I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1271	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCTTGACAGTTCTTTTGAT	0.478													False	0	False	1:151377699	0	A	151377699	G	A	151377699	3	1	88	1	0	0	0	0	1	0	0	0	12255	1029	36	2	424	2	POGZ	1	151377699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61344	151377699	97872922	1036	8748											
POGZ	23126	broad.mit.edu	37	chr1	151377824	151377824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaagtgagtgcgatgacaGtccatcacaagcatgccttt	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151377824G>T	ENST00000271715.2	-	19	4001	c.3687C>A	c.(3685-3687)gaC>gaA	p.D1229E	POGZ_ENST00000368863.2_Missense_Mutation_p.D1134E|POGZ_ENST00000491586.1_Missense_Mutation_p.D1185E|POGZ_ENST00000361398.3_Missense_Mutation_p.D1176E|POGZ_ENST00000540984.1_Missense_Mutation_p.D591E|POGZ_ENST00000531094.1_Missense_Mutation_p.D1167E|POGZ_ENST00000392723.1_Missense_Mutation_p.D1176E|POGZ_ENST00000409503.1_Missense_Mutation_p.D1220E	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1229	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCGATGACAGTCCATCACAA	0.532													False	0	False	1:151377824	0	T	151377824	G	T	151377824	3	4	88	1	0	0	0	0	1	0	0	0	12255	1020	36	3	549	3	POGZ	1	151377824	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125	151377824	97872797	1037	8749											
CGN	57530	broad.mit.edu	37	chr1	151493070	151493070	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccccccatatctctggcAgatggtttcttctggttcta	7	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151493070A>G	ENST00000271636.7	+	5	1177		c.e5-1			NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin							myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TATCTCTGGCAGATGGTTTCT	0.552													False	0	False	1:151493070	0	G	151493070	A	G	151493070	5	3	88	1	0	0	0	0	0	0	1	0	3326	202	7	4	1057	4	CGN	1	151493070	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115246	151493070	97757551	1038	8750											
CGN	57530	broad.mit.edu	37	chr1	151497153	151497153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttattttctccaggacCtgttagagacccgggaactt	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151497153C>T	ENST00000271636.7	+	8	1538	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	463	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCCAGGACCTGTTAGAGAC	0.478													False	0	False	1:151497153	0	T	151497153	C	T	151497153	2	4	88	1	0	0	0	0	0	0	0	1	3326	680	24	2		2	CGN	1	151497153	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4083	151497153	97753468	1039	8751											
TDRKH	11022	broad.mit.edu	37	chr1	151751711	151751711	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagaacgaattgtctcgccGcctctccctacattaaacaa	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151751711G>A	ENST00000368822.1	-	5	1062	c.429C>T	c.(427-429)ggC>ggT	p.G143G	TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Silent_p.G143G|TDRKH_ENST00000368827.6_Silent_p.G143G|TDRKH_ENST00000368823.1_Silent_p.G139G|TDRKH_ENST00000458431.2_Silent_p.G143G|TDRKH_ENST00000484421.1_5'UTR			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	143	KH 2.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGTCTCGCCGCCTCTCCCTA	0.398													False	0	False	1:151751711	0	A	151751711	G	A	151751711	2	1	88	1	0	0	0	0	0	0	0	1	15819	1074	38	1		1	TDRKH	1	151751711	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	254558	151751711	97498910	1040	8752											
LINGO4	339398	broad.mit.edu	37	chr1	151773422	151773422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagcttggcagtgacccGgttacccccagagtttttat	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151773422G>A	ENST00000368820.3	-	2	2696	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	587						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGTGACCCGGTTACCCCCA	0.542													False	0	True	1:151773422	0	A	151773422	G	A	151773422	3	1	88	1	0	0	0	0	1	0	0	0	8870	1115	39	1	26	1	LINGO4	1	151773422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21711	151773422	97477199	1041	8753											
LINGO4	339398	broad.mit.edu	37	chr1	151773618	151773618	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagaaaaaaaggccctggGatccctggcacggtgatgtt	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151773618G>A	ENST00000368820.3	-	2	2500	c.1563C>T	c.(1561-1563)atC>atT	p.I521I		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	521						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGGCCCTGGGATCCCTGGCA	0.577													False	0	True	1:151773618	0	A	151773618	G	A	151773618	2	1	88	1	0	0	0	0	0	0	0	1	8870	1164	41	2		2	LINGO4	1	151773618	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196	151773618	97477003	1042	8754											
LINGO4	339398	broad.mit.edu	37	chr1	151775046	151775046	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagttgcctgtggccacaGagcacagcctggggctggga	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151775046G>T	ENST00000368820.3	-	2	1072	c.135C>A	c.(133-135)ctC>ctA	p.L45L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	45	LRRNT.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTGGCCACAGAGCACAGCCT	0.662													False	0	False	1:151775046	0	T	151775046	G	T	151775046	2	4	88	1	0	0	0	0	0	0	0	1	8870	929	33	3		3	LINGO4	1	151775046	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1428	151775046	97475575	1043	8755											
LINGO4	339398	broad.mit.edu	37	chr1	151775194	151775194	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccattccctcttcagtcCtggaatagatgatgacatgg	8	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151775194C>A	ENST00000368820.3	-	2	925		c.e2-1			NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4							integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCTTCAGTCCTGGAATAGAT	0.562													False	0	False	1:151775194	0	A	151775194	C	A	151775194	5	1	88	1	0	0	0	0	0	0	1	0	8870	695	24	3		3	LINGO4	1	151775194	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148	151775194	97475427	1044	8756											
RORC	0	broad.mit.edu	37	chr1	151785743	151785743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaacagctccatgccaccGtatttgccttcaaaaaagac	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151785743G>A	ENST00000356728.6	-	7	1237	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y	RORC_ENST00000318247.6_Silent_p.Y382Y|RORC_ENST00000392697.3_Silent_p.Y436Y|RORC_ENST00000480719.1_5'UTR	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	382	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCATGCCACCGTATTTGCCTT	0.562													False	0	False	1:151785743	0	A	151785743	G	A	151785743	2	1	88	1	0	0	0	0	0	0	0	1	13609	1140	40	1		1	RORC	1	151785743	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10549	151785743	97464878	1045	8757											
RORC	0	broad.mit.edu	37	chr1	151787891	151787891	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttcttggacatgcggccGaacttgacagctgaaagagg	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151787891G>A	ENST00000356728.6	-	4	400	c.246C>T	c.(244-246)ttC>ttT	p.F82F	RORC_ENST00000318247.6_Silent_p.F103F|RORC_ENST00000392697.3_Silent_p.F157F	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	103					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACATGCGGCCGAACTTGACAG	0.552													False	0	False	1:151787891	0	A	151787891	G	A	151787891	2	1	88	1	0	0	0	0	0	0	0	1	13609	1049	37	1		1	RORC	1	151787891	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2148	151787891	97462730	1046	8758											
S100A11	6282	broad.mit.edu	37	chr1	152005293	152005293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaggacaccagggtcctTctggttctgcagagaaaata	11	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152005293T>C	ENST00000271638.2	-	3	282	c.163A>G	c.(163-165)Aag>Gag	p.K55E	S100A11_ENST00000478109.1_5'UTR|NBPF18P_ENST00000432386.1_RNA	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	55	EF-hand 2.				negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGGGTCCTTCTGGTTCTGC	0.403													False	0	False	1:152005293	0	C	152005293	T	C	152005293	3	2	88	1	0	0	0	0	1	0	0	0	13852	1792	62	4	158	4	S100A11	1	152005293	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	217402	152005293	97245328	1047	8759											
TCHHL1	126637	broad.mit.edu	37	chr1	152058970	152058970	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgttccatgggcctcaggAcctctcctctctttcctttc	7	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152058970A>T	ENST00000368806.1	-	3	1252	c.1188T>A	c.(1186-1188)ggT>ggA	p.G396G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	396							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGGCCTCAGGACCTCTCCTCT	0.468													False	0	True	1:152058970	0	T	152058970	A	T	152058970	2	4	88	1	0	0	0	0	0	0	0	1	15783	262	10	5		5	TCHHL1	1	152058970	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53677	152058970	97191651	1048	8760											
TCHHL1	126637	broad.mit.edu	37	chr1	152060019	152060019	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagcatgaaggacacaggGctgcatgaaaacacagtgag	12	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152060019G>T	ENST00000368806.1	-	3	203	c.139C>A	c.(139-141)Ccc>Acc	p.P47T		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	47							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGGACACAGGGCTGCATGAAA	0.373													False	0	True	1:152060019	0	T	152060019	G	T	152060019	5	4	88	1	0	0	0	0	0	0	1	0	15783	1217	42	3	2579	3	TCHHL1	1	152060019	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1049	152060019	97190602	1049	8761											
TCHH	7062	broad.mit.edu	37	chr1	152080181	152080181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccggtctcgctcctgccGcagcctctgctcttgttcct	9	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080181G>A	ENST00000368804.1	-	2	5511	c.5512C>T	c.(5512-5514)Cgg>Tgg	p.R1838W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1838	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTCCTGCCGCAGCCTCTGC	0.587													False	0	False	1:152080181	0	A	152080181	G	A	152080181	3	1	88	1	0	0	0	0	1	0	0	0	15782	1086	38	1	323	1	TCHH	1	152080181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20162	152080181	97170440	1050	8762											
TCHH	7062	broad.mit.edu	37	chr1	152080423	152080423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgttcttccctttccGgacggagctgctcttcctct	9	15	3	0	rs71585886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080423G>A	ENST00000368804.1	-	2	5269	c.5270C>T	c.(5269-5271)cCg>cTg	p.P1757L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1757	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCCTTTCCGGACGGAGCTG	0.597													False	0	True	1:152080423	0	A	152080423	G	A	152080423	3	1	88	1	0	0	0	0	1	0	0	0	15782	1116	39	1	565	1	TCHH	1	152080423	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242	152080423	97170198	1051	8763											
TCHH	7062	broad.mit.edu	37	chr1	152080722	152080722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgacgcagctgttgttcGcgctcctggcggcgcagctg	15	13	0	1	rs71585886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080722G>A	ENST00000368804.1	-	2	4970	c.4971C>T	c.(4969-4971)cgC>cgT	p.R1657R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1657	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTGTTCGCGCTCCTGGC	0.602													False	0	False	1:152080722	0	A	152080722	G	A	152080722	2	1	88	1	0	0	0	0	0	0	0	1	15782	1074	38	1		1	TCHH	1	152080722	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299	152080722	97169899	1052	8764											
TCHH	7062	broad.mit.edu	37	chr1	152082432	152082432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgctcttcctcctgCtgcagctcctcttccttccg	7	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152082432C>T	ENST00000368804.1	-	2	3260	c.3261G>A	c.(3259-3261)caG>caA	p.Q1087Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1087	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cttcctcctgctgcagctcct	0.617													False	0	False	1:152082432	0	T	152082432	C	T	152082432	2	4	88	1	0	0	0	0	0	0	0	1	15782	796	28	2		2	TCHH	1	152082432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1710	152082432	97168189	1053	8765											
TCHH	7062	broad.mit.edu	37	chr1	152084576	152084576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctcagctgctgctcgcGcctctcctcctcctgctcgc	9	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152084576G>A	ENST00000368804.1	-	2	1116	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	373	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctgctcgcgcctctcctcc	0.721													False	0	False	1:152084576	0	A	152084576	G	A	152084576	3	1	88	1	0	0	0	0	1	0	0	0	15782	1087	38	1	4718	1	TCHH	1	152084576	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2144	152084576	97166045	1054	8766											
TCHH	7062	broad.mit.edu	37	chr1	152085355	152085355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggtcttcttcttgcctgCgatcttgtaacaggctctcc	8	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152085355C>T	ENST00000368804.1	-	2	337	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	113					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTTGCCTGCGATCTTGTAA	0.567													False	0	False	1:152085355	0	T	152085355	C	T	152085355	3	4	88	1	0	0	0	0	1	0	0	0	15782	768	27	1	5497	1	TCHH	1	152085355	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	779	152085355	97165266	1055	8767											
RPTN	126638	broad.mit.edu	37	chr1	152127264	152127264	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgggtttgcctgtctcGtctctgacggttctgcttgt	11	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152127264G>A	ENST00000316073.3	-	3	2375	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	771	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGCCTGTCTCGTCTCTGACGG	0.473													False	0	True	1:152127264	0	A	152127264	G	A	152127264	4	1	88	1	0	0	0	0	0	1	0	0	13743	1153	40	1	47	1	RPTN	1	152127264	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41909	152127264	97123357	1056	8768											
RPTN	126638	broad.mit.edu	37	chr1	152128896	152128896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcacaccgatttaaggCaaagatatgtccctgccatt	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152128896C>T	ENST00000316073.3	-	3	743	c.679G>A	c.(679-681)Gcc>Acc	p.A227T		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	227	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.A227T(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CGATTTAAGGCAAAGATATGT	0.413													False	0	True	1:152128896	0	T	152128896	C	T	152128896	3	4	88	1	0	0	0	0	1	0	0	0	13743	710	25	2	1679	2	RPTN	1	152128896	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1632	152128896	97121725	1057	8769											
HRNR	388697	broad.mit.edu	37	chr1	152188160	152188160	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagaagagtgaccggagccaGactcatatgggccacggctg	14	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152188160G>T	ENST00000368801.2	-	3	6020	c.5945C>A	c.(5944-5946)tCt>tAt	p.S1982Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1982					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGGAGCCAGACTCATATGG	0.592													False	0	False	1:152188160	0	T	152188160	G	T	152188160	3	4	88	1	0	0	0	0	1	0	0	0	7406	942	33	3	2611	3	HRNR	1	152188160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59264	152188160	97062461	1058	8770											
HRNR	388697	broad.mit.edu	37	chr1	152192138	152192138	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcgactaggagactggccaGatccagagccctgttggcca	13	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192138G>T	ENST00000368801.2	-	3	2042	c.1967C>A	c.(1966-1968)tCt>tAt	p.S656Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	656					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTGGCCAGATCCAGAGCC	0.587													False	0	False	1:152192138	0	T	152192138	G	T	152192138	3	4	88	1	0	0	0	0	1	0	0	0	7406	942	33	3	6589	3	HRNR	1	152192138	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3978	152192138	97058483	1059	8771											
HRNR	388697	broad.mit.edu	37	chr1	152192207	152192207	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catgctgaccgtggctggaaGactgacctgaggtagctcca	13	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192207G>A	ENST00000368801.2	-	3	1973	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	633					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCTGGAAGACTGACCTGA	0.577													False	0	False	1:152192207	0	A	152192207	G	A	152192207	3	1	88	1	0	0	0	0	1	0	0	0	7406	942	33	2	6658	2	HRNR	1	152192207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	152192207	97058414	1060	8772											
HRNR	388697	broad.mit.edu	37	chr1	152192830	152192830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacccacgctggccgtgGcctggagactggccagatcc	13	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192830G>A	ENST00000368801.2	-	3	1350	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	425					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGCCGTGGCCTGGAGACT	0.617													False	0	False	1:152192830	0	A	152192830	G	A	152192830	2	1	88	1	0	0	0	0	0	0	0	1	7406	1190	42	2		2	HRNR	1	152192830	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	623	152192830	97057791	1061	8773											
FLG	2312	broad.mit.edu	37	chr1	152276040	152276040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctatctaccgattgctcGtggtaggatccctgtcttcc	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152276040G>A	ENST00000368799.1	-	3	11357	c.11322C>T	c.(11320-11322)caC>caT	p.H3774H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3774	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H3774H(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGATTGCTCGTGGTAGGATC	0.592									Ichthyosis				False	0	False	1:152276040	0	A	152276040	G	A	152276040	2	1	88	1	0	0	0	0	0	0	0	1	5962	1136	40	1		1	FLG	1	152276040	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83210	152276040	96974581	1062	8774											
FLG	2312	broad.mit.edu	37	chr1	152277244	152277244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttccccctgaccggtcaCgtgcggactcttggtggctc	11	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152277244C>T	ENST00000368799.1	-	3	10153	c.10118G>A	c.(10117-10119)cGt>cAt	p.R3373H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3373	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCGGTCACGTGCGGACTC	0.592									Ichthyosis				False	0	False	1:152277244	0	T	152277244	C	T	152277244	3	4	88	1	0	0	0	0	1	0	0	0	5962	536	19	1	2071	1	FLG	1	152277244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1204	152277244	96973377	1063	8775											
FLG	2312	broad.mit.edu	37	chr1	152279011	152279011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtgtccacgaatggtgTcctgaccgtcttgggatgct	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152279011T>C	ENST00000368799.1	-	3	8386	c.8351A>G	c.(8350-8352)gAc>gGc	p.D2784G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2784	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGAATGGTGTCCTGACCGTC	0.602									Ichthyosis				False	0	False	1:152279011	0	C	152279011	T	C	152279011	3	2	88	1	0	0	0	0	1	0	0	0	5962	1667	58	4	3838	4	FLG	1	152279011	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1767	152279011	96971610	1064	8776											
FLG	2312	broad.mit.edu	37	chr1	152281915	152281915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctgcttgaccctgggTgtccacgaatggtgtcctga	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152281915T>C	ENST00000368799.1	-	3	5482	c.5447A>G	c.(5446-5448)cAc>cGc	p.H1816R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1816	Ser-rich.		H -> Q (in dbSNP:rs12073613).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCCTGGGTGTCCACGAAT	0.597									Ichthyosis				False	0	True	1:152281915	0	C	152281915	T	C	152281915	3	2	88	1	0	0	0	0	1	0	0	0	5962	1696	59	4	6742	4	FLG	1	152281915	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2904	152281915	96968706	1065	8777											
FLG	2312	broad.mit.edu	37	chr1	152281939	152281939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgaatggtgtcctgacccTcttgggacgctgagtgcctg	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152281939T>C	ENST00000368799.1	-	3	5458	c.5423A>G	c.(5422-5424)gAg>gGg	p.E1808G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1808	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGACCCTCTTGGGACGC	0.597									Ichthyosis				False	0	True	1:152281939	0	C	152281939	T	C	152281939	3	2	88	1	0	0	0	0	1	0	0	0	5962	1551	54	4	6766	4	FLG	1	152281939	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24	152281939	96968682	1066	8778											
FLG	2312	broad.mit.edu	37	chr1	152285813	152285813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttgaccccgggtgtccacGaatggtgtcctgaccctctt	11	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152285813G>A	ENST00000368799.1	-	3	1584	c.1549C>T	c.(1549-1551)Cgt>Tgt	p.R517C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	517	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGTGTCCACGAATGGTGTCC	0.602									Ichthyosis				False	0	False	1:152285813	0	A	152285813	G	A	152285813	3	1	88	1	0	0	0	0	1	0	0	0	5962	1058	37	1	10640	1	FLG	1	152285813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3874	152285813	96964808	1067	8779											
FLG2	388698	broad.mit.edu	37	chr1	152323365	152323365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagtggtatctcctgtctgTccatgagtagtttccagtct	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152323365T>C	ENST00000388718.5	-	3	6969	c.6897A>G	c.(6895-6897)ggA>ggG	p.G2299G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2299							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGTCTGTCCATGAGTAG	0.478													False	0	True	1:152323365	0	C	152323365	T	C	152323365	2	2	88	1	0	0	0	0	0	0	0	1	5963	1654	58	4		4	FLG2	1	152323365	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37552	152323365	96927256	1068	8780											
FLG2	388698	broad.mit.edu	37	chr1	152323561	152323561	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtccataaccatagTgggcatgtctagtggtatct	11	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152323561T>C	ENST00000388718.5	-	3	6773	c.6701A>G	c.(6700-6702)cAc>cGc	p.H2234R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2234							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATAACCATAGTGGGCATGTCT	0.542													False	0	True	1:152323561	0	C	152323561	T	C	152323561	3	2	88	1	0	0	0	0	1	0	0	0	5963	1696	59	4	478	4	FLG2	1	152323561	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	196	152323561	96927060	1069	8781											
FLG2	388698	broad.mit.edu	37	chr1	152324909	152324909	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtctgtgtggactgtccatGaccagagtgggcatgtctgg	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152324909G>A	ENST00000388718.5	-	3	5425	c.5353C>T	c.(5353-5355)Cat>Tat	p.H1785Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1785							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGTCCATGACCAGAGTGG	0.512													False	0	False	1:152324909	0	A	152324909	G	A	152324909	3	1	88	1	0	0	0	0	1	0	0	0	5963	1290	45	2	1826	2	FLG2	1	152324909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1348	152324909	96925712	1070	8782											
FLG2	388698	broad.mit.edu	37	chr1	152325221	152325221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggattctgactgtccatGttgagatccagcttgaccat	9	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152325221G>A	ENST00000388718.5	-	3	5113	c.5041C>T	c.(5041-5043)Cat>Tat	p.H1681Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1681							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGTCCATGTTGAGATCCA	0.478													False	0	False	1:152325221	0	A	152325221	G	A	152325221	3	1	88	1	0	0	0	0	1	0	0	0	5963	1377	48	2	2138	2	FLG2	1	152325221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	312	152325221	96925400	1071	8783											
FLG2	388698	broad.mit.edu	37	chr1	152329582	152329582	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttcccaactgtttgatccaGatccagattcatactcctcc	4	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152329582G>T	ENST00000388718.5	-	3	752	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	227	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTTGATCCAGATCCAGATTC	0.433													False	0	True	1:152329582	0	T	152329582	G	T	152329582	3	4	88	1	0	0	0	0	1	0	0	0	5963	942	33	3	6499	3	FLG2	1	152329582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4361	152329582	96921039	1072	8784											
CRNN	49860	broad.mit.edu	37	chr1	152382446	152382446	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtctgtccctgttctctaGcccctccgtggcttacagtt	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152382446G>T	ENST00000271835.3	-	3	1174	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	371	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTCTCTAGCCCCTCCGTG	0.592													False	0	True	1:152382446	0	T	152382446	G	T	152382446	3	4	88	1	0	0	0	0	1	0	0	0	3915	971	34	3	379	3	CRNN	1	152382446	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52864	152382446	96868175	1073	8785											
CRNN	49860	broad.mit.edu	37	chr1	152383288	152383288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctccctcagcactctcGctcagtgtcttgaaacaggc	9	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152383288G>A	ENST00000271835.3	-	3	332	c.270C>T	c.(268-270)agC>agT	p.S90S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	90					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCACTCTCGCTCAGTGTCT	0.562													False	0	False	1:152383288	0	A	152383288	G	A	152383288	2	1	88	1	0	0	0	0	0	0	0	1	3915	1078	38	1		1	CRNN	1	152383288	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	842	152383288	96867333	1074	8786											
LCE5A	254910	broad.mit.edu	37	chr1	152484304	152484304	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtggccagcagtctgggggCtccagctgctgccacagctc	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152484304C>A	ENST00000334269.2	+	2	470	c.294C>A	c.(292-294)ggC>ggA	p.G98G		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	98	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCTGGGGGCTCCAGCTGCT	0.682													False	0	True	1:152484304	0	A	152484304	C	A	152484304	2	1	88	1	0	0	0	0	0	0	0	1	8726	784	28	3		3	LCE5A	1	152484304	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101016	152484304	96766317	1075	8787											
LCE3A	353142	broad.mit.edu	37	chr1	152595443	152595443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtgactcaggcagcagCtgcgctcggagctgggccca	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152595443C>T	ENST00000335674.1	-	1	136	c.137G>A	c.(136-138)aGc>aAc	p.S46N		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	46					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGCAGCAGCTGCGCTCGGA	0.657													False	0	False	1:152595443	0	T	152595443	C	T	152595443	3	4	88	1	0	0	0	0	1	0	0	0	8720	797	28	2	135	2	LCE3A	1	152595443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111139	152595443	96655178	1076	8788											
KPRP	448834	broad.mit.edu	37	chr1	152732646	152732646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatagcagttgtggcccccaGtttcagtcaagggctacctg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152732646G>A	ENST00000368773.1	+	2	640	c.582G>A	c.(580-582)caG>caA	p.Q194Q	KPRP_ENST00000606109.1_Silent_p.Q194Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	194	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCCCCAGTTTCAGTCAA	0.547													False	0	True	1:152732646	0	A	152732646	G	A	152732646	2	1	88	1	0	0	0	0	0	0	0	1	8486	1020	36	2		2	KPRP	1	152732646	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137203	152732646	96517975	1077	8789											
KPRP	448834	broad.mit.edu	37	chr1	152733397	152733397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcactacgtccaacaccgCggccagttccccttcctcgc	7	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152733397C>T	ENST00000368773.1	+	2	1391	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	KPRP_ENST00000606109.1_Missense_Mutation_p.R445W	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	445	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAACACCGCGGCCAGTTCC	0.582													False	0	False	1:152733397	0	T	152733397	C	T	152733397	3	4	88	1	0	0	0	0	1	0	0	0	8486	759	27	1	1335	1	KPRP	1	152733397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	751	152733397	96517224	1078	8790											
LCE1F	353137	broad.mit.edu	37	chr1	152749094	152749094	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgagccaccacagacggCgtaggtcccaccgccacaga	11	17	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152749094C>A	ENST00000334371.2	+	1	247	c.247C>A	c.(247-249)Cgt>Agt	p.R83S		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	83	Poly-Arg.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGACGGCGTAGGTCCCA	0.701													False	0	False	1:152749094	0	A	152749094	C	A	152749094	3	1	88	1	0	0	0	0	1	0	0	0	8715	768	27	3	249	3	LCE1F	1	152749094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15697	152749094	96501527	1079	8791											
LCE1D	353134	broad.mit.edu	37	chr1	152770357	152770357	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtgccccgcccctaaatgTccccctaagtgccctccagt	7	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152770357T>C	ENST00000326233.6	+	2	130	c.87T>C	c.(85-87)tgT>tgC	p.C29C		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	29	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTAAATGTCCCCCTAAGT	0.657													False	0	True	1:152770357	0	C	152770357	T	C	152770357	2	2	88	1	0	0	0	0	0	0	0	1	8713	1673	58	4		4	LCE1D	1	152770357	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21263	152770357	96480264	1080	8792											
LCE1D	353134	broad.mit.edu	37	chr1	152770417	152770417	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctccggaggctgctgtggCtccagctctgggggcggctg	18	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152770417C>A	ENST00000326233.6	+	2	190	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	49	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTGTGGCTCCAGCTCTG	0.672													False	0	False	1:152770417	0	A	152770417	C	A	152770417	2	1	88	1	0	0	0	0	0	0	0	1	8713	784	28	3		3	LCE1D	1	152770417	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	152770417	96480204	1081	8793											
LCE1C	353133	broad.mit.edu	37	chr1	152777708	152777708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggcagtgggacctacGgcgcctgtggtggctcaggc	17	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152777708G>A	ENST00000368768.1	-	2	297	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	LCE1C_ENST00000607093.1_Missense_Mutation_p.R83C	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	83	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGGACCTACGGCGCCTGTGG	0.701													False	0	False	1:152777708	0	A	152777708	G	A	152777708	3	1	88	1	0	0	0	0	1	0	0	0	8712	1116	39	1	113	1	LCE1C	1	152777708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7291	152777708	96472913	1082	8794											
LCE1C	353133	broad.mit.edu	37	chr1	152777882	152777882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggacactttggggtggGgcacttgggagggcacttgg	21	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152777882G>A	ENST00000368768.1	-	2	123	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	LCE1C_ENST00000607093.1_Missense_Mutation_p.P25S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	25	Pro-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			tttggggTGgggcacttggga	0.637													False	0	True	1:152777882	0	A	152777882	G	A	152777882	3	1	88	1	0	0	0	0	1	0	0	0	8712	1232	43	2	287	2	LCE1C	1	152777882	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174	152777882	96472739	1083	8795											
IVL	3713	broad.mit.edu	37	chr1	152883822	152883822	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tagagcacccagagcagcagGacggacaactaaaacatctg	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152883822G>C	ENST00000368764.3	+	2	1613	c.1549G>C	c.(1549-1551)Gac>Cac	p.D517H	IVL_ENST00000392667.2_Missense_Mutation_p.D371H			P07476	INVO_HUMAN	involucrin	517	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agagcagcaggacggacaact	0.607													False	0	True	1:152883822	0	C	152883822	G	C	152883822	3	2	88	1	0	0	0	0	1	0	0	0	7979	1174	41	5	1551	5	IVL	1	152883822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105940	152883822	96366799	1084	8796											
SPRR2A	6700	broad.mit.edu	37	chr1	153029119	153029119	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggcagggctcagggcaCttcgggggtggacatggctc	20	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153029119C>A	ENST00000392653.2	-	2	178	c.93G>T	c.(91-93)aaG>aaT	p.K31N		NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	small proline-rich protein 2A	31	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				keratinization	cornified envelope|cytoplasm	binding			large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTCAGGGCACTTCGGGGGTG	0.622													False	0	False	1:153029119	0	A	153029119	C	A	153029119	3	1	88	1	0	0	0	0	1	0	0	0	15179	564	20	3	129	3	SPRR2A	1	153029119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145297	153029119	96221502	1085	8797											
SPRR2G	0	broad.mit.edu	37	chr1	153122548	153122548	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggggcacacaggaggtggCtggcagggctgcttgcactg	19	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153122548C>A	ENST00000368748.4	-	2	77	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	13					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGAGGTGGCTGGCAGGGCT	0.562													False	0	True	1:153122548	0	A	153122548	C	A	153122548	3	1	88	1	0	0	0	0	1	0	0	0	15184	796	28	3	186	3	SPRR2G	1	153122548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93429	153122548	96128073	1086	8798											
PGLYRP3	114771	broad.mit.edu	37	chr1	153279722	153279722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgccccccactccttgCgggagacgatggtgggagta	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153279722C>T	ENST00000290722.1	-	2	129	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	26					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACTCCTTGCGGGAGACGAT	0.627													False	0	True	1:153279722	0	T	153279722	C	T	153279722	3	4	88	1	0	0	0	0	1	0	0	0	11864	768	27	1	972	1	PGLYRP3	1	153279722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157174	153279722	95970899	1087	8799											
PGLYRP4	57115	broad.mit.edu	37	chr1	153312923	153312923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtcccggaccagcaggCggcactcatcagaaatgttg	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153312923C>T	ENST00000368739.3	-	7	1104	c.746G>A	c.(745-747)cGc>cAc	p.R249H	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R253H			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	253					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCAGCAGGCGGCACTCATC	0.542													False	0	False	1:153312923	0	T	153312923	C	T	153312923	3	4	88	1	0	0	0	0	1	0	0	0	11865	768	27	1	375	1	PGLYRP4	1	153312923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33201	153312923	95937698	1088	8800											
PGLYRP4	57115	broad.mit.edu	37	chr1	153314114	153314114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtcttacccttcttcaggCttgtcttctgccgaggggcc	11	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153314114C>A	ENST00000368739.3	-	6	960	c.602G>T	c.(601-603)aGc>aTc	p.S201I	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.S205I			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	205					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTCTTCAGGCTTGTCTTCTG	0.537													False	0	False	1:153314114	0	A	153314114	C	A	153314114	3	1	88	1	0	0	0	0	1	0	0	0	11865	797	28	3	523	3	PGLYRP4	1	153314114	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1191	153314114	95936507	1089	8801											
S100A7A	338324	broad.mit.edu	37	chr1	153391710	153391710	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatttttctgagtttctgtcCttgctgggagacatagccgc	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153391710C>A	ENST00000368729.4	+	3	288	c.231C>A	c.(229-231)tcC>tcA	p.S77S	S100A7A_ENST00000368728.2_Silent_p.S77S|S100A7A_ENST00000329256.2_Silent_p.S77S	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	77	EF-hand 2.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTTTCTGTCCTTGCTGGGAG	0.517													False	0	False	1:153391710	0	A	153391710	C	A	153391710	2	1	88	1	0	0	0	0	0	0	0	1	13863	668	24	3		3	S100A7A	1	153391710	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77596	153391710	95858911	1090	8802											
S100A4	6275	broad.mit.edu	37	chr1	153516359	153516359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctgttgctgtccaagTtgctcatcagcttctggaaa	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153516359T>C	ENST00000368716.4	-	3	329	c.182A>G	c.(181-183)aAc>aGc	p.N61S	S100A4_ENST00000354332.4_Missense_Mutation_p.N61S|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368715.1_Missense_Mutation_p.N61S|S100A4_ENST00000368714.1_Missense_Mutation_p.N61S	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	61	EF-hand 2.				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGTCCAAGTTGCTCATCAG	0.507													False	0	False	1:153516359	0	C	153516359	T	C	153516359	3	2	88	1	0	0	0	0	1	0	0	0	13859	1725	60	4	127	4	S100A4	1	153516359	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	124649	153516359	95734262	1091	8803											
S100A13	6284	broad.mit.edu	37	chr1	153598820	153598820	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagatggggcaactgctgGgtaaccagctctttgaactc	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153598820G>A	ENST00000368699.1	-	4	632	c.129C>T	c.(127-129)acC>acT	p.T43T	S100A13_ENST00000440685.2_Silent_p.T43T|S100A13_ENST00000339556.4_Silent_p.T43T|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000392622.1_Silent_p.T43T|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000392623.1_Silent_p.T43T	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	43	EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	GCAACTGCTGGGTAACCAGCT	0.527													False	0	True	1:153598820	0	A	153598820	G	A	153598820	2	1	88	1	0	0	0	0	0	0	0	1	13854	1219	43	2		2	S100A13	1	153598820	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82461	153598820	95651801	1092	8804											
ILF2	3608	broad.mit.edu	37	chr1	153642341	153642341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaatgggatatgtggtaCaaagggcctgaacctaaaac	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153642341C>T	ENST00000361891.4	-	3	204	c.79G>A	c.(79-81)Gta>Ata	p.V27I	ILF2_ENST00000368681.1_Missense_Mutation_p.V27I	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	27					immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATATGTGGTACAAAGGGCCTG	0.388													False	0	True	1:153642341	0	T	153642341	C	T	153642341	3	4	88	1	0	0	0	0	1	0	0	0	7761	478	17	2	1141	2	ILF2	1	153642341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43521	153642341	95608280	1093	8805											
NPR1	4881	broad.mit.edu	37	chr1	153657450	153657450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtatcccaggaagatgcagCtggagaaggaactggcctcg	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153657450C>A	ENST00000368680.3	+	8	1967	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	499					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAAGATGCAGCTGGAGAAGGA	0.662													False	0	False	1:153657450	0	A	153657450	C	A	153657450	3	1	88	1	0	0	0	0	1	0	0	0	10662	796	28	3	1525	3	NPR1	1	153657450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15109	153657450	95593171	1094	8806											
INTS3	65123	broad.mit.edu	37	chr1	153730091	153730091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccaagattggttccagcGccagtacctgtcaactccag	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153730091G>A	ENST00000456435.1	+	10	1569	c.383G>A	c.(382-384)cGc>cAc	p.R128H	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R334H|INTS3_ENST00000318967.2_Missense_Mutation_p.R334H|INTS3_ENST00000512605.1_Missense_Mutation_p.R128H			Q68E01	INT3_HUMAN	integrator complex subunit 3	335					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	p.R334H(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGTTCCAGCGCCAGTACCTG	0.498													False	0	False	1:153730091	0	A	153730091	G	A	153730091	3	1	88	1	0	0	0	0	1	0	0	0	7829	1087	38	1	1039	1	INTS3	1	153730091	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72641	153730091	95520530	1095	8807											
INTS3	65123	broad.mit.edu	37	chr1	153744853	153744853	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaagctggcccagctgactCtggagcagatcctggagcac	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153744853C>T	ENST00000456435.1	+	27	3326	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.L920L|INTS3_ENST00000318967.2_Silent_p.L920L|INTS3_ENST00000512605.1_Silent_p.L714L			Q68E01	INT3_HUMAN	integrator complex subunit 3	921					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCTGACTCTGGAGCAGAT	0.587											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:153744853	0	T	153744853	C	T	153744853	2	4	88	1	0	0	0	0	0	0	0	1	7829	912	32	2		2	INTS3	1	153744853	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14762	153744853	95505768	1096	8808											
GATAD2B	57459	broad.mit.edu	37	chr1	153791334	153791334	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaggaccagtcgggctTcttccaatcgtagctcatcc	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153791334T>G	ENST00000368655.4	-	4	773	c.530A>C	c.(529-531)gAa>gCa	p.E177A		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	177	CR1.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTCGGGCTTCTTCCAATCG	0.478													False	0	False	1:153791334	0	G	153791334	T	G	153791334	3	3	88	1	0	0	0	0	1	0	0	0	6304	1783	62	4	1283	4	GATAD2B	1	153791334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46481	153791334	95459287	1097	8809											
GATAD2B	57459	broad.mit.edu	37	chr1	153800602	153800602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttaagtttttcttcataGcccttgacaccactgccatc	5	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153800602G>A	ENST00000368655.4	-	2	465	c.222C>T	c.(220-222)ggC>ggT	p.G74G		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	74						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTCTTCATAGCCCTTGACAC	0.463													False	0	True	1:153800602	0	A	153800602	G	A	153800602	2	1	88	1	0	0	0	0	0	0	0	1	6304	958	34	2		2	GATAD2B	1	153800602	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9268	153800602	95450019	1098	8810											
DENND4B	9909	broad.mit.edu	37	chr1	153903473	153903473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctattggggtcagggGtcagtacatcccacagcagc	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903473G>A	ENST00000361217.4	-	25	4482	c.4064C>T	c.(4063-4065)aCc>aTc	p.T1355I	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1355										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGTCAGGGGTCAGTACATC	0.597													False	0	True	1:153903473	0	A	153903473	G	A	153903473	3	1	88	1	0	0	0	0	1	0	0	0	4464	1261	44	2	442	2	DENND4B	1	153903473	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102871	153903473	95347148	1099	8811											
DENND4B	9909	broad.mit.edu	37	chr1	153903495	153903495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtacatcccacagcagccGtacctgaacagaggctggat	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903495G>A	ENST00000361217.4	-	25	4460	c.4042C>T	c.(4042-4044)Cgg>Tgg	p.R1348W	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1348										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACAGCAGCCGTACCTGAACA	0.587													False	0	False	1:153903495	0	A	153903495	G	A	153903495	3	1	88	1	0	0	0	0	1	0	0	0	4464	1144	40	1	464	1	DENND4B	1	153903495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	153903495	95347126	1100	8812											
DENND4B	9909	broad.mit.edu	37	chr1	153903514	153903514	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtacctgaacagaggctggAtcaggggttagccaaggaga	15	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903514A>G	ENST00000361217.4	-	25	4441	c.4023T>C	c.(4021-4023)gaT>gaC	p.D1341D	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1341										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGAGGCTGGATCAGGGGTTA	0.572													False	0	False	1:153903514	0	G	153903514	A	G	153903514	2	3	88	1	0	0	0	0	0	0	0	1	4464	330	12	4		4	DENND4B	1	153903514	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19	153903514	95347107	1101	8813											
DENND4B	9909	broad.mit.edu	37	chr1	153905988	153905988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggatccagggcgctcccGggggtgcagaagactgtcca	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153905988G>A	ENST00000361217.4	-	20	3719	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1101										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCGCTCCCGGGGGTGCAGA	0.662													False	0	True	1:153905988	0	A	153905988	G	A	153905988	3	1	88	1	0	0	0	0	1	0	0	0	4464	1115	39	1	1225	1	DENND4B	1	153905988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2474	153905988	95344633	1102	8814											
DENND4B	9909	broad.mit.edu	37	chr1	153907339	153907339	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttgccgttctctcaaGggctggcggaactgagcagc	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153907339G>T	ENST00000361217.4	-	18	3088	c.2670C>A	c.(2668-2670)ccC>ccA	p.P890P		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	890	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTTCTCTCAAGGGCTGGCGGA	0.632													False	0	True	1:153907339	0	T	153907339	G	T	153907339	2	4	88	1	0	0	0	0	0	0	0	1	4464	987	35	3		3	DENND4B	1	153907339	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1351	153907339	95343282	1103	8815											
DENND4B	9909	broad.mit.edu	37	chr1	153909116	153909116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgccgaccgcacataggCaggcagacacaggaaccaca	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153909116C>T	ENST00000361217.4	-	16	2759	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	781										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCACATAGGCAGGCAGACAC	0.637													False	0	True	1:153909116	0	T	153909116	C	T	153909116	3	4	88	1	0	0	0	0	1	0	0	0	4464	710	25	2	2201	2	DENND4B	1	153909116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1777	153909116	95341505	1104	8816											
CREB3L4	148327	broad.mit.edu	37	chr1	153945234	153945234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagctgccctgtcaaacCctgttcctgaccgatgagga	9	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153945234C>T	ENST00000368607.3	+	5	824	c.558C>T	c.(556-558)acC>acT	p.T186T	CREB3L4_ENST00000368600.3_Silent_p.T166T|CREB3L4_ENST00000271889.4_Silent_p.T186T|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000405694.3_Silent_p.T39T|CREB3L4_ENST00000368603.1_Silent_p.T186T|CREB3L4_ENST00000368601.1_Silent_p.T186T	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	186					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGTCAAACCCTGTTCCTGA	0.607													False	0	True	1:153945234	0	T	153945234	C	T	153945234	2	4	88	1	0	0	0	0	0	0	0	1	3882	610	22	2		2	CREB3L4	1	153945234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36118	153945234	95305387	1105	8817											
JTB	10899	broad.mit.edu	37	chr1	153947167	153947167	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatgtagctatatggactcGatttgcttccggaccttttc	9	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153947167G>A	ENST00000271843.4	-	5	864	c.429C>T	c.(427-429)atC>atT	p.I143I	JTB_ENST00000368589.1_Silent_p.I114I|JTB_ENST00000356648.1_Silent_p.I114I	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	143					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATATGGACTCGATTTGCTTCC	0.478													False	0	False	1:153947167	0	A	153947167	G	A	153947167	2	1	88	1	0	0	0	0	0	0	0	1	8017	1048	37	1		1	JTB	1	153947167	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1933	153947167	95303454	1106	8818											
RAB13	5872	broad.mit.edu	37	chr1	153956050	153956050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaaccgctcttggccagCcgtgtccctaaagaaggaga	11	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153956050C>T	ENST00000368575.3	-	3	308	c.193G>A	c.(193-195)Gct>Act	p.A65T	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	65					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTTGGCCAGCCGTGTCCCTA	0.443													False	0	False	1:153956050	0	T	153956050	C	T	153956050	3	4	88	1	0	0	0	0	1	0	0	0	12978	739	26	2	442	2	RAB13	1	153956050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8883	153956050	95294571	1107	8819											
RPS27	6232	broad.mit.edu	37	chr1	153964128	153964128	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctctgccagcctacaGgaggaaaagcaaggcttaca	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153964128G>T	ENST00000368567.4	+	3	240	c.202G>T	c.(202-204)Gga>Tga	p.G68*	RPS27_ENST00000493224.1_3'UTR|RPS27_ENST00000392558.4_3'UTR	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	ribosomal protein S27	68					cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCCTACAGGAGGAAAAGC	0.413													False	0	False	1:153964128	0	T	153964128	G	T	153964128	4	4	88	1	0	0	0	0	0	1	0	0	13717	1001	35	3	212	3	RPS27	1	153964128	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8078	153964128	95286493	1108	8820											
NUP210L	91181	broad.mit.edu	37	chr1	153991470	153991470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcattgcagtccccggactcCtggccactcctactccagtg	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153991470C>A	ENST00000368559.3	-	33	4663	c.4592G>T	c.(4591-4593)aGg>aTg	p.R1531M	NUP210L_ENST00000368553.1_Missense_Mutation_p.R464M|NUP210L_ENST00000271854.3_Missense_Mutation_p.R1531M	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1531						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	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)			CCCCGGACTCCTGGCCACTCC	0.428													False	0	False	1:153991470	0	A	153991470	C	A	153991470	3	1	88	1	0	0	0	0	1	0	0	0	10829	681	24	3	1106	3	NUP210L	1	153991470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27342	153991470	95259151	1109	8821											
NUP210L	91181	broad.mit.edu	37	chr1	153998021	153998021	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagtccatgaactcacctgGaccccagttatggttgtttg	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153998021G>A	ENST00000368559.3	-	30	4190	c.4119C>T	c.(4117-4119)gtC>gtT	p.V1373V	NUP210L_ENST00000368553.1_Silent_p.V306V|NUP210L_ENST00000271854.3_Silent_p.V1373V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1373						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	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)			AACTCACCTGGACCCCAGTTA	0.373													False	0	False	1:153998021	0	A	153998021	G	A	153998021	2	1	88	1	0	0	0	0	0	0	0	1	10829	1161	41	2		2	NUP210L	1	153998021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6551	153998021	95252600	1110	8822											
NUP210L	91181	broad.mit.edu	37	chr1	154026854	154026854	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggagaagtgaacgatggaTtggggctgggggccaccttc	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154026854T>G	ENST00000368559.3	-	25	3404	c.3333A>C	c.(3331-3333)caA>caC	p.Q1111H	NUP210L_ENST00000368553.1_Missense_Mutation_p.Q44H|NUP210L_ENST00000271854.3_Missense_Mutation_p.Q1111H	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1111						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	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)			GAACGATGGATTGGGGCTGGG	0.458													False	0	False	1:154026854	0	G	154026854	T	G	154026854	3	3	88	1	0	0	0	0	1	0	0	0	10829	1490	52	4	2397	4	NUP210L	1	154026854	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28833	154026854	95223767	1111	8823											
NUP210L	91181	broad.mit.edu	37	chr1	154062023	154062023	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaacctctacagctggActagggttcaggacacctgg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154062023A>C	ENST00000368559.3	-	16	2306	c.2235T>G	c.(2233-2235)agT>agG	p.S745R	NUP210L_ENST00000271854.3_Missense_Mutation_p.S745R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	745						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	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)			CTACAGCTGGACTAGGGTTCA	0.483													False	0	False	1:154062023	0	C	154062023	A	C	154062023	3	2	88	1	0	0	0	0	1	0	0	0	10829	272	10	4	3531	4	NUP210L	1	154062023	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35169	154062023	95188598	1112	8824											
TPM3	7170	broad.mit.edu	37	chr1	154142946	154142946	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactcagcacgggtctctgcCtgggggaaatatgaaattag	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154142946C>A	ENST00000368533.3	-	7	647		c.e7-1		TPM3_ENST00000341372.3_Splice_Site|TPM3_ENST00000368530.2_Splice_Site|TPM3_ENST00000271850.7_Splice_Site|TPM3_ENST00000341485.5_Splice_Site|TPM3_ENST00000469717.1_Splice_Site|TPM3_ENST00000328159.4_Splice_Site|TPM3_ENST00000330188.9_Splice_Site|TPM3_ENST00000302206.5_Splice_Site|TPM3_ENST00000323144.7_Splice_Site|TPM3_ENST00000368531.2_Splice_Site	NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GGGTCTCTGCCTGGGGGAAAT	0.448			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"								False	0	False	1:154142946	0	A	154142946	C	A	154142946	5	1	88	1	0	0	0	0	0	0	1	0	16490	695	24	3	335	3	TPM3	1	154142946	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80923	154142946	95107675	1113	8825											
C1orf43	25912	broad.mit.edu	37	chr1	154184951	154184951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccctgtcccatagcgggCtgtttcatagccatccaaaa	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154184951C>T	ENST00000368521.5	-	5	688	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	C1orf43_ENST00000350592.3_Missense_Mutation_p.A130T|C1orf43_ENST00000368516.1_Missense_Mutation_p.A130T|C1orf43_ENST00000362076.4_Missense_Mutation_p.A112T|C1orf43_ENST00000368518.1_Missense_Mutation_p.A164T|C1orf43_ENST00000368519.1_Missense_Mutation_p.A146T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	164						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CCATAGCGGGCTGTTTCATAG	0.488													False	0	True	1:154184951	0	T	154184951	C	T	154184951	3	4	88	1	0	0	0	0	1	0	0	0	2056	797	28	2	283	2	C1orf43	1	154184951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42005	154184951	95065670	1114	8826											
C1orf43	25912	broad.mit.edu	37	chr1	154185064	154185064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaaattcttgcccattaagGaacggggatgccggccttca	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154185064G>A	ENST00000368521.5	-	5	575	c.377C>T	c.(376-378)tCc>tTc	p.S126F	C1orf43_ENST00000350592.3_Missense_Mutation_p.S92F|C1orf43_ENST00000368516.1_Missense_Mutation_p.S92F|C1orf43_ENST00000362076.4_Missense_Mutation_p.S74F|C1orf43_ENST00000368518.1_Missense_Mutation_p.S126F|C1orf43_ENST00000368519.1_Missense_Mutation_p.S108F	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	126						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GCCCATTAAGGAACGGGGATG	0.443													False	0	False	1:154185064	0	A	154185064	G	A	154185064	3	1	88	1	0	0	0	0	1	0	0	0	2056	1174	41	2	396	2	C1orf43	1	154185064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113	154185064	95065557	1115	8827											
UBAP2L	9898	broad.mit.edu	37	chr1	154232488	154232488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagggatggtagcctggCcagcaacccttattctggta	14	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154232488C>T	ENST00000428931.1	+	22	2728	c.2561C>T	c.(2560-2562)gCc>gTc	p.A854V	UBAP2L_ENST00000271877.7_Missense_Mutation_p.A865V|UBAP2L_ENST00000361546.2_Missense_Mutation_p.A854V|UBAP2L_ENST00000343815.6_Missense_Mutation_p.A854V	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	854					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGTAGCCTGGCCAGCAACCCT	0.473													False	0	False	1:154232488	0	T	154232488	C	T	154232488	3	4	88	1	0	0	0	0	1	0	0	0	16922	739	26	2	2643	2	UBAP2L	1	154232488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47424	154232488	95018133	1116	8828											
ATP8B2	57198	broad.mit.edu	37	chr1	154300337	154300337	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcttctcctttccctacaGgcatgggcttctgtaaagtc	7	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154300337G>T	ENST00000368489.3	+	1	62	c.62G>T	c.(61-63)aGg>aTg	p.R21M	ATP8B2_ENST00000368487.3_Intron	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	0					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTCCCTACAGGCATGGGCTT	0.552													False	0	False	1:154300337	0	T	154300337	G	T	154300337	5	4	88	1	0	0	0	0	0	0	1	0	1199	1014	35	3	64	3	ATP8B2	1	154300337	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67849	154300337	94950284	1117	8829											
IL6R	3570	broad.mit.edu	37	chr1	154401729	154401729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtgactctgacctgccCgggggtagagccggaagaca	15	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154401729C>T	ENST00000368485.3	+	2	580	c.143C>T	c.(142-144)cCg>cTg	p.P48L	IL6R_ENST00000344086.4_Missense_Mutation_p.P48L	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	48	Ig-like C2-type.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGACCTGCCCGGGGGTAGAG	0.637													False	0	True	1:154401729	0	T	154401729	C	T	154401729	3	4	88	1	0	0	0	0	1	0	0	0	7752	652	23	1	149	1	IL6R	1	154401729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101392	154401729	94848892	1118	8830											
IL6R	3570	broad.mit.edu	37	chr1	154420626	154420626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagtcctccagctgagaaCgaggtgtccacccccatgca	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154420626C>T	ENST00000368485.3	+	7	1412	c.975C>T	c.(973-975)aaC>aaT	p.N325N	IL6R_ENST00000344086.4_Silent_p.N325N|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	325					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCTGAGAACGAGGTGTCCA	0.542													False	0	False	1:154420626	0	T	154420626	C	T	154420626	2	4	88	1	0	0	0	0	0	0	0	1	7752	535	19	1		1	IL6R	1	154420626	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18897	154420626	94829995	1119	8831											
IL6R	3570	broad.mit.edu	37	chr1	154437670	154437670	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacaagcatgcatccgccGtactctttggggcagctggt	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154437670G>A	ENST00000368485.3	+	10	1658	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	IL6R_ENST00000344086.4_3'UTR|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	407					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCATCCGCCGTACTCTTTGG	0.567													False	0	False	1:154437670	0	A	154437670	G	A	154437670	2	1	88	1	0	0	0	0	0	0	0	1	7752	1132	40	1		1	IL6R	1	154437670	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17044	154437670	94812951	1120	8832											
CHRNB2	1141	broad.mit.edu	37	chr1	154544331	154544331	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcctggagaagctgccCgcgctgctcttcatgcagca	11	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154544331C>A	ENST00000368476.3	+	5	1296	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	344					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	AGAAGCTGCCCGCGCTGCTCT	0.687													False	0	True	1:154544331	0	A	154544331	C	A	154544331	2	1	88	1	0	0	0	0	0	0	0	1	3414	639	23	3		3	CHRNB2	1	154544331	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106661	154544331	94706290	1121	8833											
ADAR	103	broad.mit.edu	37	chr1	154569664	154569664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatggcttcctctgcggCcatctgctttgccactttct	7	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154569664C>T	ENST00000368474.4	-	5	2213	c.2014G>A	c.(2014-2016)Gcc>Acc	p.A672T	ADAR_ENST00000368471.3_Missense_Mutation_p.A377T|ADAR_ENST00000292205.5_Missense_Mutation_p.A715T	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	672	DRBM 2.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCCTCTGCGGCCATCTGCTTT	0.532													False	0	False	1:154569664	0	T	154569664	C	T	154569664	3	4	88	1	0	0	0	0	1	0	0	0	281	739	26	2	1710	2	ADAR	1	154569664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25333	154569664	94680957	1122	8834											
ADAR	103	broad.mit.edu	37	chr1	154574527	154574527	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagcctgagtggagaccgcGattttccacaaagggggtgt	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154574527G>A	ENST00000368474.4	-	2	790	c.591C>T	c.(589-591)atC>atT	p.I197I	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Silent_p.I240I	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	197					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	p.I197I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGAGACCGCGATTTTCCACA	0.522													False	0	False	1:154574527	0	A	154574527	G	A	154574527	2	1	88	1	0	0	0	0	0	0	0	1	281	1048	37	1		1	ADAR	1	154574527	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4863	154574527	94676094	1123	8835											
ADAR	103	broad.mit.edu	37	chr1	154575024	154575024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actactgggggaagatcctgGcccaggctgctggtacctga	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154575024G>A	ENST00000368474.4	-	2	293	c.94C>T	c.(94-96)Cca>Tca	p.P32S	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.P75S|ADAR_ENST00000471068.1_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	32					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAAGATCCTGGCCCAGGCTGC	0.522													False	0	True	1:154575024	0	A	154575024	G	A	154575024	3	1	88	1	0	0	0	0	1	0	0	0	281	1203	42	2	3642	2	ADAR	1	154575024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	497	154575024	94675597	1124	8836											
KCNN3	3782	broad.mit.edu	37	chr1	154744644	154744644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagcagcatgactcgggCgatcaggtacaggcgcagga	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154744644C>T	ENST00000271915.4	-	3	1570	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	KCNN3_ENST00000361147.4_Missense_Mutation_p.A114T|KCNN3_ENST00000358505.2_Missense_Mutation_p.A106T	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ATGACTCGGGCGATCAGGTAC	0.602													False	0	True	1:154744644	0	T	154744644	C	T	154744644	3	4	88	1	0	0	0	0	1	0	0	0	8130	768	27	1	964	1	KCNN3	1	154744644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169620	154744644	94505977	1125	8837											
PYGO2	90780	broad.mit.edu	37	chr1	154932183	154932183	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcctccgaagggcacaGgactgccaaggaatggaggg	17	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154932183G>T	ENST00000368457.2	-	3	464	c.293C>A	c.(292-294)cCt>cAt	p.P98H	PYGO2_ENST00000368456.1_Missense_Mutation_p.P61H|PYGO2_ENST00000483463.1_5'UTR	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	98	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAAGGGCACAGGACTGCCAAG	0.642													False	0	False	1:154932183	0	T	154932183	G	T	154932183	3	4	88	1	0	0	0	0	1	0	0	0	12943	1000	35	3	931	3	PYGO2	1	154932183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187539	154932183	94318438	1126	8838											
PYGO2	90780	broad.mit.edu	37	chr1	154932251	154932251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcatcttcaaaagggttGgatgcaaccaggtgatccac	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154932251G>A	ENST00000368457.2	-	3	396	c.225C>T	c.(223-225)tcC>tcT	p.S75S	PYGO2_ENST00000368456.1_Silent_p.S38S|PYGO2_ENST00000483463.1_5'UTR	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	75	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAAAGGGTTGGATGCAACCA	0.582													False	0	False	1:154932251	0	A	154932251	G	A	154932251	2	1	88	1	0	0	0	0	0	0	0	1	12943	1335	47	2		2	PYGO2	1	154932251	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68	154932251	94318370	1127	8839											
FLAD1	80308	broad.mit.edu	37	chr1	154960890	154960890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattggtgccctcctctgccCgcctgcattatggcacagat	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154960890C>T	ENST00000368433.1	+	2	1025	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	FLAD1_ENST00000292180.3_Missense_Mutation_p.R228C|FLAD1_ENST00000405236.2_Missense_Mutation_p.R129C|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000368431.3_Missense_Mutation_p.R129C|FLAD1_ENST00000315144.10_Missense_Mutation_p.R131C|FLAD1_ENST00000368432.1_Missense_Mutation_p.R131C|FLAD1_ENST00000487371.1_3'UTR			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	228					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCTCTGCCCGCCTGCATTA	0.562													False	0	True	1:154960890	0	T	154960890	C	T	154960890	3	4	88	1	0	0	0	0	1	0	0	0	5960	652	23	1	763	1	FLAD1	1	154960890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28639	154960890	94289731	1128	8840											
ZBTB7B	51043	broad.mit.edu	37	chr1	154988148	154988148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccaagacaagctggtgCgcaaacgccgctcccagatg	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154988148C>T	ENST00000368426.3	+	3	1149	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R338C|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R338C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R372C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	338					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAGCTGGTGCGCAAACGCCG	0.607													False	0	False	1:154988148	0	T	154988148	C	T	154988148	3	4	88	1	0	0	0	0	1	0	0	0	17637	768	27	1	1014	1	ZBTB7B	1	154988148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27258	154988148	94262473	1129	8841											
DCST2	127579	broad.mit.edu	37	chr1	154999185	154999185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacggttagagacaccaacAcaggacctggcacaaagaca	9	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154999185A>G	ENST00000368424.3	-	9	1407	c.1349T>C	c.(1348-1350)gTg>gCg	p.V450A	DCST2_ENST00000295536.5_Missense_Mutation_p.V450A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	450						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGACACCAACACAGGACCTGG	0.502													False	0	False	1:154999185	0	G	154999185	A	G	154999185	3	3	88	1	0	0	0	0	1	0	0	0	4328	159	6	4	1000	4	DCST2	1	154999185	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11037	154999185	94251436	1130	8842											
DCST1	149095	broad.mit.edu	37	chr1	155020587	155020587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctattgaagaaaagagcaGccttcaccaaactcaggagg	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155020587G>A	ENST00000295542.1	+	16	1906	c.1810G>A	c.(1810-1812)Gcc>Acc	p.A604T	DCST1_ENST00000392480.1_Missense_Mutation_p.A604T|DCST1_ENST00000423025.2_Missense_Mutation_p.A579T|DCST1_ENST00000368419.2_Missense_Mutation_p.A604T	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	604						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAAAAGAGCAGCCTTCACCAA	0.572													False	0	False	1:155020587	0	A	155020587	G	A	155020587	3	1	88	1	0	0	0	0	1	0	0	0	4327	971	34	2	1868	2	DCST1	1	155020587	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21402	155020587	94230034	1131	8843											
ADAM15	8751	broad.mit.edu	37	chr1	155028286	155028286	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggcgggatgtggtaacagaGaccaagactgtggagttggt	17	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155028286G>A	ENST00000356955.2	+	7	734	c.633G>A	c.(631-633)gaG>gaA	p.E211E	ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Silent_p.E221E|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000360674.4_Silent_p.E211E|ADAM15_ENST00000359280.4_Silent_p.E211E|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000355956.2_Silent_p.E211E|ADAM15_ENST00000368412.3_Silent_p.E211E|ADAM15_ENST00000271836.6_Silent_p.E211E|ADAM15_ENST00000447332.3_Silent_p.E195E|ADAM15_ENST00000449910.2_Silent_p.E211E	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	211					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTAACAGAGACCAAGACTG	0.592													False	0	False	1:155028286	0	A	155028286	G	A	155028286	2	1	88	1	0	0	0	0	0	0	0	1	237	933	33	2		2	ADAM15	1	155028286	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7699	155028286	94222335	1132	8844											
EFNA1	1942	broad.mit.edu	37	chr1	155104109	155104109	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggacacagctactactacatCtgtgagtgcctgtgagggga	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155104109C>A	ENST00000368407.3	+	2	905	c.387C>A	c.(385-387)atC>atA	p.I129I	EFNA1_ENST00000368406.2_Splice_Site_p.I129I|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	129					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACTACTACATCTGTGAGTGCC	0.522													False	0	False	1:155104109	0	A	155104109	C	A	155104109	5	1	88	1	0	0	0	0	0	0	1	0	4980	927	32	3	393	3	EFNA1	1	155104109	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75823	155104109	94146512	1133	8845											
DPM3	54344	broad.mit.edu	37	chr1	155112460	155112460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagcgcagccccctgcggGctaagtcggctcgggcctcc	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155112460G>A	ENST00000368399.1	-	1	423	c.347C>T	c.(346-348)gCc>gTc	p.A116V	DPM3_ENST00000368400.4_Missense_Mutation_p.A86V|DPM3_ENST00000341298.3_Missense_Mutation_p.A86V	NM_018973.3	NP_061846.2	Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	86					C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding			endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCCCTGCGGGCTAAGTCGGC	0.587													False	0	True	1:155112460	0	A	155112460	G	A	155112460	3	1	88	1	0	0	0	0	1	0	0	0	4756	1203	42	2	25	2	DPM3	1	155112460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8351	155112460	94138161	1134	8846											
TRIM46	80128	broad.mit.edu	37	chr1	155148076	155148076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcccccgcctctcccGcagaactctccccaagccag	7	23	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155148076G>A	ENST00000392451.2	+	2	361	c.278G>A	c.(277-279)cGc>cAc	p.R93H	TRIM46_ENST00000368385.4_Missense_Mutation_p.R93H|TRIM46_ENST00000543729.1_Missense_Mutation_p.R100H|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000368382.1_Missense_Mutation_p.R70H|TRIM46_ENST00000334634.4_Missense_Mutation_p.R93H|TRIM46_ENST00000468878.1_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.R93H			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	93						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCCTCTCCCGCAGAACTCTC	0.657													False	0	True	1:155148076	0	A	155148076	G	A	155148076	3	1	88	1	0	0	0	0	1	0	0	0	16604	1087	38	1	284	1	TRIM46	1	155148076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35616	155148076	94102545	1135	8847											
TRIM46	80128	broad.mit.edu	37	chr1	155154489	155154489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtggatgtggtcctgggcGacgtggctgtgacccagggc	19	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155154489G>A	ENST00000368382.1	+	9	1818	c.1681G>A	c.(1681-1683)Gac>Aac	p.D561N	TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.D458N|TRIM46_ENST00000334634.4_Missense_Mutation_p.D584N|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.D584N	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	584	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGTCCTGGGCGACGTGGCTGT	0.667													False	0	False	1:155154489	0	A	155154489	G	A	155154489	3	1	88	1	0	0	0	0	1	0	0	0	16604	1058	37	1	1784	1	TRIM46	1	155154489	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6413	155154489	94096132	1136	8848											
MUC1	4582	broad.mit.edu	37	chr1	155160512	155160512	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatattggagaggcccagaaAacccccttgtttataaatct	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155160512A>T	ENST00000368395.1	-	4	987	c.916T>A	c.(916-918)Ttt>Att	p.F306I	MUC1_ENST00000368390.3_Missense_Mutation_p.F86I|MUC1_ENST00000457295.2_Missense_Mutation_p.F95I|MUC1_ENST00000337604.5_Missense_Mutation_p.F104I|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000438413.1_Missense_Mutation_p.F60I|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000343256.5_Silent_p.V79V|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368393.3_Missense_Mutation_p.F104I|MUC1_ENST00000368392.3_Missense_Mutation_p.F95I	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1086	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGCCCAGAAAACCCCCTTGT	0.532			T	IGH@	B-NHL								False	0	True	1:155160512	0	T	155160512	A	T	155160512	3	4	88	1	0	0	0	0	1	0	0	0	10037	14	1	5	531	5	MUC1	1	155160512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6023	155160512	94090109	1137	8849											
CLK2	1196	broad.mit.edu	37	chr1	155234050	155234050	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgggaagggataggacccaaGatcctttccatcatggctag	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155234050G>A	ENST00000368361.4	-	11	1503	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	CLK2_ENST00000536801.1_Silent_p.I396I|CLK2_ENST00000355560.4_Silent_p.I394I|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.I395I			P49760	CLK2_HUMAN	CDC-like kinase 2	396	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGGACCCAAGATCCTTTCCA	0.468								Other conserved DNA damage response genes					False	0	False	1:155234050	0	A	155234050	G	A	155234050	2	1	88	1	0	0	0	0	0	0	0	1	3560	932	33	2		2	CLK2	1	155234050	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73538	155234050	94016571	1138	8850											
CLK2	1196	broad.mit.edu	37	chr1	155236524	155236524	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcccaccccactcacacttGacagcctggcacagctggaa	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155236524G>A	ENST00000368361.4	-	7	1149	c.834C>T	c.(832-834)gtC>gtT	p.V278V	CLK2_ENST00000536801.1_Silent_p.V278V|CLK2_ENST00000355560.4_Silent_p.V276V|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.V277V			P49760	CLK2_HUMAN	CDC-like kinase 2	278	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACTCACACTTGACAGCCTGGC	0.572								Other conserved DNA damage response genes					False	0	False	1:155236524	0	A	155236524	G	A	155236524	2	1	88	1	0	0	0	0	0	0	0	1	3560	1277	45	2		2	CLK2	1	155236524	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2474	155236524	94014097	1139	8851											
PKLR	5313	broad.mit.edu	37	chr1	155264395	155264395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaggaggcaaagacgatGtccaccccatgctccacccc	8	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155264395G>A	ENST00000392414.3	-	6	863	c.750C>T	c.(748-750)gaC>gaT	p.D250D	PKLR_ENST00000342741.4_Silent_p.D281D	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	281					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAAAGACGATGTCCACCCCAT	0.637													False	0	False	1:155264395	0	A	155264395	G	A	155264395	2	1	88	1	0	0	0	0	0	0	0	1	12045	1368	48	2		2	PKLR	1	155264395	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27871	155264395	93986226	1140	8852											
PKLR	5313	broad.mit.edu	37	chr1	155265358	155265358	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcgatggactcagcatggTactgggggagggagcggagc	20	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155265358T>C	ENST00000392414.3	-	4	397	c.284A>G	c.(283-285)tAc>tGc	p.Y95C	PKLR_ENST00000342741.4_Splice_Site_p.Y126C	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	126			G -> R (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTCAGCATGGTACTGGGGGAG	0.692													False	0	False	1:155265358	0	C	155265358	T	C	155265358	5	2	88	1	0	0	0	0	0	0	1	0	12045	1652	57	4	1379	4	PKLR	1	155265358	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	963	155265358	93985263	1141	8853											
FDPS	2224	broad.mit.edu	37	chr1	155289473	155289473	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagatgggggagttctttcaGattcaggtaagaaggcagga	16	4	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155289473G>A	ENST00000356657.6	+	9	1080	c.918G>A	c.(916-918)caG>caA	p.Q306Q	FDPS_ENST00000447866.1_Silent_p.Q240Q|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|FDPS_ENST00000368356.4_Silent_p.Q306Q|RUSC1-AS1_ENST00000543656.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	306					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGTTCTTTCAGATTCAGGTAA	0.552													False	0	False	1:155289473	0	A	155289473	G	A	155289473	2	1	88	1	0	0	0	0	0	0	0	1	5843	933	33	2		2	FDPS	1	155289473	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24115	155289473	93961148	1142	8854											
RUSC1	23623	broad.mit.edu	37	chr1	155297964	155297964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatctagctggctgccccCgacagtgagtgtgttggctc	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155297964C>T	ENST00000368352.5	+	9	2589	c.2438C>T	c.(2437-2439)cCg>cTg	p.P813L	RUSC1_ENST00000368349.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368347.4_Missense_Mutation_p.P403L|RUSC1_ENST00000292254.4_Missense_Mutation_p.P344L|RUSC1_ENST00000368354.3_Missense_Mutation_p.P707L|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	813						cytoplasm|nucleolus	SH3/SH2 adaptor activity	p.P344Q(2)|p.P707Q(2)|p.P403Q(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGGCTGCCCCCGACAGTGAGT	0.582													False	0	True	1:155297964	0	T	155297964	C	T	155297964	3	4	88	1	0	0	0	0	1	0	0	0	13829	652	23	1	2599	1	RUSC1	1	155297964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8491	155297964	93952657	1143	8855											
RUSC1	23623	broad.mit.edu	37	chr1	155300316	155300316	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctccgctgtgggcgggatgGcatggagggtctggtgcctg	20	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155300316G>T	ENST00000368352.5	+	10	2814	c.2663G>T	c.(2662-2664)gGc>gTc	p.G888V	RUSC1_ENST00000368349.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368347.4_Missense_Mutation_p.G478V|RUSC1_ENST00000292254.4_Missense_Mutation_p.G419V|RUSC1_ENST00000368354.3_Missense_Mutation_p.G782V|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	888	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GGGCGGGATGGCATGGAGGGT	0.592													False	0	False	1:155300316	0	T	155300316	G	T	155300316	3	4	88	1	0	0	0	0	1	0	0	0	13829	1203	42	3	2828	3	RUSC1	1	155300316	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2352	155300316	93950305	1144	8856											
ASH1L	55870	broad.mit.edu	37	chr1	155313152	155313152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagcaggtccccactacaGcctccaagggaatgatctca	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155313152G>T	ENST00000368346.3	-	24	8900	c.8261C>A	c.(8260-8262)gCt>gAt	p.A2754D	ASH1L_ENST00000392403.3_Missense_Mutation_p.A2749D			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2754	BAH.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCCCACTACAGCCTCCAAGGG	0.478													False	0	False	1:155313152	0	T	155313152	G	T	155313152	3	4	88	1	0	0	0	0	1	0	0	0	1045	971	34	3	668	3	ASH1L	1	155313152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12836	155313152	93937469	1145	8857											
ASH1L	55870	broad.mit.edu	37	chr1	155348095	155348095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggcagtcatcaacacaGcccttcctggtgtcatcatc	8	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155348095G>A	ENST00000368346.3	-	10	6963	c.6324C>T	c.(6322-6324)ggC>ggT	p.G2108G	ASH1L_ENST00000392403.3_Silent_p.G2103G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2108	AWS.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATCAACACAGCCCTTCCTGG	0.423													False	0	True	1:155348095	0	A	155348095	G	A	155348095	2	1	88	1	0	0	0	0	0	0	0	1	1045	958	34	2		2	ASH1L	1	155348095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34943	155348095	93902526	1146	8858											
ASH1L	55870	broad.mit.edu	37	chr1	155408590	155408590	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggaacagctgcttgtcaActtttcagataggagtgaga	14	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155408590A>C	ENST00000368346.3	-	5	5995	c.5356T>G	c.(5356-5358)Ttg>Gtg	p.L1786V	ASH1L_ENST00000392403.3_Missense_Mutation_p.L1786V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1786	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGCTTGTCAACTTTTCAGAT	0.473													False	0	False	1:155408590	0	C	155408590	A	C	155408590	3	2	88	1	0	0	0	0	1	0	0	0	1045	40	2	4	3634	4	ASH1L	1	155408590	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60495	155408590	93842031	1147	8859											
ASH1L	55870	broad.mit.edu	37	chr1	155451439	155451439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaaaggacaactcattaGtttctttccaatgtccttat	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155451439G>A	ENST00000368346.3	-	3	1861	c.1222C>T	c.(1222-1224)Cta>Tta	p.L408L	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Silent_p.L408L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	408					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAACTCATTAGTTTCTTTCCA	0.448													False	0	True	1:155451439	0	A	155451439	G	A	155451439	2	1	88	1	0	0	0	0	0	0	0	1	1045	1020	36	2		2	ASH1L	1	155451439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42849	155451439	93799182	1148	8860											
ASH1L	55870	broad.mit.edu	37	chr1	155491144	155491144	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttcccagcttcgatgtttCtttctcgattccgtttgcga	7	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155491144C>T	ENST00000368346.3	-	2	806	c.167G>A	c.(166-168)aGa>aAa	p.R56K	ASH1L_ENST00000548830.1_Missense_Mutation_p.R56K|ASH1L_ENST00000392403.3_Missense_Mutation_p.R56K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	56					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCGATGTTTCTTTCTCGATT	0.398													False	0	True	1:155491144	0	T	155491144	C	T	155491144	3	4	88	1	0	0	0	0	1	0	0	0	1045	913	32	2	8835	2	ASH1L	1	155491144	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39705	155491144	93759477	1149	8861											
MSTO1	55154	broad.mit.edu	37	chr1	155581999	155581999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatcctgtgtgacctgcaCgatggcttctctggggtagg	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155581999C>T	ENST00000245564.2	+	8	729	c.705C>T	c.(703-705)caC>caT	p.H235H	MSTO1_ENST00000368341.4_Silent_p.H200H|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000483734.1_3'UTR	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	235					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GTGACCTGCACGATGGCTTCT	0.567													False	0	False	1:155581999	0	T	155581999	C	T	155581999	2	4	88	1	0	0	0	0	0	0	0	1	9961	535	19	1		1	MSTO1	1	155581999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90855	155581999	93668622	1150	8862											
MSTO1	55154	broad.mit.edu	37	chr1	155582030	155582030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtaggcgcgaaggcgGcagagctgctacaagatgaa	17	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155582030G>A	ENST00000245564.2	+	8	760	c.736G>A	c.(736-738)Gca>Aca	p.A246T	MSTO1_ENST00000368341.4_Missense_Mutation_p.A211T|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000483734.1_3'UTR	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	246					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CGCGAAGGCGGCAGAGCTGCT	0.542													False	0	False	1:155582030	0	A	155582030	G	A	155582030	3	1	88	1	0	0	0	0	1	0	0	0	9961	1203	42	2	766	2	MSTO1	1	155582030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	155582030	93668591	1151	8863											
MSTO1	55154	broad.mit.edu	37	chr1	155582081	155582081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaataataacctggggcCtgctacctggtccctaccat	11	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155582081C>T	ENST00000245564.2	+	8	811	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	MSTO1_ENST00000368341.4_Silent_p.L228L|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000483734.1_3'UTR	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	263					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					AACCTGGGGCCTGCTACCTGG	0.552													False	0	False	1:155582081	0	T	155582081	C	T	155582081	2	4	88	1	0	0	0	0	0	0	0	1	9961	680	24	2		2	MSTO1	1	155582081	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51	155582081	93668540	1152	8864											
YY1AP1	55249	broad.mit.edu	37	chr1	155629498	155629498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcaggttccatcttgaCaacttcctctaaatccccag	4	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155629498C>T	ENST00000368340.5	-	10	2665	c.2557G>A	c.(2557-2559)Gtc>Atc	p.V853I	YY1AP1_ENST00000361831.5_Missense_Mutation_p.V724I|YY1AP1_ENST00000368339.5_Missense_Mutation_p.V873I|YY1AP1_ENST00000347088.5_Missense_Mutation_p.V735I|YY1AP1_ENST00000355499.4_Missense_Mutation_p.V735I|YY1AP1_ENST00000404643.1_Missense_Mutation_p.V715I|YY1AP1_ENST00000295566.4_Missense_Mutation_p.V781I|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.V581I|YY1AP1_ENST00000368330.2_Missense_Mutation_p.V735I|YY1AP1_ENST00000311573.5_Missense_Mutation_p.V704I|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.V704I|YY1AP1_ENST00000359205.5_Missense_Mutation_p.V724I	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCCATCTTGACAACTTCCTCT	0.512													False	0	False	1:155629498	0	T	155629498	C	T	155629498	3	4	88	1	0	0	0	0	1	0	0	0	17592	478	17	2	53	2	YY1AP1	1	155629498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47417	155629498	93621123	1153	8865											
YY1AP1	55249	broad.mit.edu	37	chr1	155630344	155630344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagtggctggctgtattgGgtgaggaatccggagcacca	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155630344G>A	ENST00000368340.5	-	10	1819	c.1711C>T	c.(1711-1713)Cca>Tca	p.P571S	YY1AP1_ENST00000361831.5_Missense_Mutation_p.P442S|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P591S|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P453S|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P453S|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P433S|YY1AP1_ENST00000295566.4_Missense_Mutation_p.P499S|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P299S|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P453S|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P422S|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P422S|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P442S	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGCTGTATTGGGTGAGGAATC	0.557													False	0	True	1:155630344	0	A	155630344	G	A	155630344	3	1	88	1	0	0	0	0	1	0	0	0	17592	1232	43	2	899	2	YY1AP1	1	155630344	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	846	155630344	93620277	1154	8866											
YY1AP1	55249	broad.mit.edu	37	chr1	155646536	155646536	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttggccagtagttcctcaaAcctatcccaaacggggatga	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155646536A>C	ENST00000368340.5	-	4	649	c.541T>G	c.(541-543)Ttt>Gtt	p.F181V	YY1AP1_ENST00000405763.3_Splice_Site_p.F181V|YY1AP1_ENST00000438245.2_Splice_Site_p.F43V|YY1AP1_ENST00000361831.5_Splice_Site_p.F32V|YY1AP1_ENST00000368339.5_Splice_Site_p.F181V|YY1AP1_ENST00000347088.5_Splice_Site_p.F43V|YY1AP1_ENST00000355499.4_Splice_Site_p.F43V|YY1AP1_ENST00000404643.1_Splice_Site_p.F43V|YY1AP1_ENST00000295566.4_Splice_Site_p.F109V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368330.2_Splice_Site_p.F43V|YY1AP1_ENST00000311573.5_Splice_Site_p.F32V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000407221.1_Splice_Site_p.F32V|YY1AP1_ENST00000359205.5_Splice_Site_p.F32V	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGTTCCTCAAACCTATCCCAA	0.408													False	0	True	1:155646536	0	C	155646536	A	C	155646536	5	2	88	1	0	0	0	0	0	0	1	0	17592	57	2	4	2153	4	YY1AP1	1	155646536	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16192	155646536	93604085	1155	8867											
GON4L	54856	broad.mit.edu	37	chr1	155732150	155732150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccggccttttccagcaGctttgatgctctctccttgt	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155732150G>A	ENST00000437809.1	-	23	4864	c.4742C>T	c.(4741-4743)gCt>gTt	p.A1581V	GON4L_ENST00000271883.5_Missense_Mutation_p.A1581V|GON4L_ENST00000368331.1_Missense_Mutation_p.A1581V	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1581					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTTCCAGCAGCTTTGATGCT	0.542													False	0	False	1:155732150	0	A	155732150	G	A	155732150	3	1	88	1	0	0	0	0	1	0	0	0	6617	971	34	2	2020	2	GON4L	1	155732150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85614	155732150	93518471	1156	8868											
GON4L	54856	broad.mit.edu	37	chr1	155733187	155733187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcagagtctccaactgCttcatccgtcatttcatcct	5	15	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155733187C>A	ENST00000437809.1	-	22	4764	c.4642G>T	c.(4642-4644)Gca>Tca	p.A1548S	GON4L_ENST00000271883.5_Missense_Mutation_p.A1548S|GON4L_ENST00000368331.1_Missense_Mutation_p.A1548S	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1548	Glu-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTCCAACTGCTTCATCCGTC	0.502													False	0	False	1:155733187	0	A	155733187	C	A	155733187	3	1	88	1	0	0	0	0	1	0	0	0	6617	797	28	3	2124	3	GON4L	1	155733187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1037	155733187	93517434	1157	8869											
GON4L	54856	broad.mit.edu	37	chr1	155746214	155746214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtggtagtggcctccGgattgaggttggggttgcag	18	7	0	1	rs140447805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155746214G>A	ENST00000437809.1	-	16	2272	c.2150C>T	c.(2149-2151)cCg>cTg	p.P717L	GON4L_ENST00000271883.5_Missense_Mutation_p.P717L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.P717L|GON4L_ENST00000368331.1_Missense_Mutation_p.P717L	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	717					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTGGCCTCCGGATTGAGGTT	0.428													False	0	False	1:155746214	0	A	155746214	G	A	155746214	3	1	88	1	0	0	0	0	1	0	0	0	6617	1116	39	1	4757	1	GON4L	1	155746214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13027	155746214	93504407	1158	8870											
GON4L	54856	broad.mit.edu	37	chr1	155783530	155783530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcggctttggagggggCgggggccccatgggcactac	18	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155783530C>T	ENST00000437809.1	-	10	1469	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	GON4L_ENST00000271883.5_Silent_p.P449P|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.P449P|GON4L_ENST00000368331.1_Silent_p.P449P	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	449	Poly-Pro.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGGAGGGGGCGGGGGCCCCA	0.517													False	0	True	1:155783530	0	T	155783530	C	T	155783530	2	4	88	1	0	0	0	0	0	0	0	1	6617	755	27	1		1	GON4L	1	155783530	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37316	155783530	93467091	1159	8871											
SYT11	23208	broad.mit.edu	37	chr1	155850386	155850386	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcaaagccagacacttgccGaagatggatatcaccggtct	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155850386G>A	ENST00000368324.4	+	3	1210	c.957G>A	c.(955-957)ccG>ccA	p.P319P	SYT11_ENST00000539162.1_Silent_p.P12P	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	319	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GACACTTGCCGAAGATGGATA	0.517													False	0	False	1:155850386	0	A	155850386	G	A	155850386	2	1	88	1	0	0	0	0	0	0	0	1	15549	1045	37	1		1	SYT11	1	155850386	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66856	155850386	93400235	1160	8872											
SYT11	23208	broad.mit.edu	37	chr1	155851195	155851195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtggggaggctgatcCtgggggcacacagtgtcaca	18	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155851195C>T	ENST00000368324.4	+	4	1445	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	SYT11_ENST00000539162.1_Silent_p.L91L	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	398						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GAGGCTGATCCTGGGGGCACA	0.587													False	0	False	1:155851195	0	T	155851195	C	T	155851195	2	4	88	1	0	0	0	0	0	0	0	1	15549	680	24	2		2	SYT11	1	155851195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	809	155851195	93399426	1161	8873											
SYT11	23208	broad.mit.edu	37	chr1	155851245	155851245	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgaacactggagagaggtCtgcgagagcccccgcaagcc	14	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155851245C>A	ENST00000368324.4	+	4	1495	c.1242C>A	c.(1240-1242)gtC>gtA	p.V414V	SYT11_ENST00000539162.1_Silent_p.V107V	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	414						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GGAGAGAGGTCTGCGAGAGCC	0.597													False	0	False	1:155851245	0	A	155851245	C	A	155851245	2	1	88	1	0	0	0	0	0	0	0	1	15549	900	32	3		3	SYT11	1	155851245	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50	155851245	93399376	1162	8874											
KIAA0907	22889	broad.mit.edu	37	chr1	155885736	155885736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattccagtcactggaaaggCtggtggaggcatcaactgcc	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155885736C>A	ENST00000368320.3	-	13	1598	c.1573G>T	c.(1573-1575)Gcc>Tcc	p.A525S	KIAA0907_ENST00000368321.3_Missense_Mutation_p.A525S			Q7Z7F0	K0907_HUMAN	KIAA0907	525										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACTGGAAAGGCTGGTGGAGGC	0.413													False	0	False	1:155885736	0	A	155885736	C	A	155885736	3	1	88	1	0	0	0	0	1	0	0	0	8249	797	28	3	279	3	KIAA0907	1	155885736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34491	155885736	93364885	1163	8875											
KIAA0907	22889	broad.mit.edu	37	chr1	155891297	155891297	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcactatgcttggtactcCgtagggaggttgaactggct	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155891297C>A	ENST00000368320.3	-	10	1160	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*	KIAA0907_ENST00000368319.3_Missense_Mutation_p.R345L|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Nonsense_Mutation_p.G379*			Q7Z7F0	K0907_HUMAN	KIAA0907	379	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTGGTACTCCGTAGGGAGGT	0.517													False	0	False	1:155891297	0	A	155891297	C	A	155891297	4	1	88	1	0	0	0	0	0	1	0	0	8249	661	23	3	729	3	KIAA0907	1	155891297	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5561	155891297	93359324	1164	8876											
KIAA0907	22889	broad.mit.edu	37	chr1	155899568	155899568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcacatcattaatttctaCttcagctaccaccaggtcat	5	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155899568C>A	ENST00000368320.3	-	3	344	c.319G>T	c.(319-321)Gta>Tta	p.V107L	KIAA0907_ENST00000368319.3_Missense_Mutation_p.V107L|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.V107L			Q7Z7F0	K0907_HUMAN	KIAA0907	107										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTAATTTCTACTTCAGCTACC	0.443													False	0	False	1:155899568	0	A	155899568	C	A	155899568	3	1	88	1	0	0	0	0	1	0	0	0	8249	565	20	3	1573	3	KIAA0907	1	155899568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8271	155899568	93351053	1165	8877											
MEX3A	92312	broad.mit.edu	37	chr1	156046584	156046584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttagagaagccctggagCggctctcccggggggcgcct	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156046584C>T	ENST00000532414.2	-	2	1343	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P		NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	448						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGCCCTGGAGCGGCTCTCCCG	0.746													False	0	False	1:156046584	0	T	156046584	C	T	156046584	2	4	88	1	0	0	0	0	0	0	0	1	9576	755	27	1		1	MEX3A	1	156046584	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147016	156046584	93204037	1166	8878											
MEX3A	92312	broad.mit.edu	37	chr1	156047062	156047062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcttgccagtgcgcaccGcgatgtgcgtctcgatctcc	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047062G>A	ENST00000532414.2	-	2	865	c.866C>T	c.(865-867)gCg>gTg	p.A289V	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	289						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGTGCGCACCGCGATGTGCGT	0.627													False	0	False	1:156047062	0	A	156047062	G	A	156047062	3	1	88	1	0	0	0	0	1	0	0	0	9576	1087	38	1	700	1	MEX3A	1	156047062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478	156047062	93203559	1167	8879											
MEX3A	92312	broad.mit.edu	37	chr1	156047459	156047459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggtcttggccctcaaggCcttaatcttgcagcctggga	12	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047459C>T	ENST00000532414.2	-	2	468	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	157	KH 1.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCCTCAAGGCCTTAATCTTG	0.567													False	0	False	1:156047459	0	T	156047459	C	T	156047459	3	4	88	1	0	0	0	0	1	0	0	0	9576	739	26	2	1097	2	MEX3A	1	156047459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	397	156047459	93203162	1168	8880											
MEX3A	92312	broad.mit.edu	37	chr1	156047474	156047474	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaggccttaatcttgcagcCtgggatagggcggggaagga	16	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047474C>A	ENST00000532414.2	-	2	454		c.e2-1		MEX3A_ENST00000442784.1_Splice_Site	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A							cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					ATCTTGCAGCCTGGGATAGGG	0.547													False	0	False	1:156047474	0	A	156047474	C	A	156047474	5	1	88	1	0	0	0	0	0	0	1	0	9576	695	24	3	1112	3	MEX3A	1	156047474	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	156047474	93203147	1169	8881											
SEMA4A	64218	broad.mit.edu	37	chr1	156130351	156130351	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctccgctggctgcatcGtaaggacctgacccccgctg	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156130351G>A	ENST00000368285.3	+	7	952		c.e7+1		SEMA4A_ENST00000368286.2_Splice_Site|SEMA4A_ENST00000368284.1_Splice_Site|SEMA4A_ENST00000368282.1_Splice_Site|SEMA4A_ENST00000487358.1_Splice_Site|SEMA4A_ENST00000355014.2_Splice_Site	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A						axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGGCTGCATCGTAAGGACCTG	0.537													False	0	False	1:156130351	0	A	156130351	G	A	156130351	5	1	88	1	0	0	0	0	0	0	1	0	14112	1159	40	1	708	1	SEMA4A	1	156130351	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82877	156130351	93120270	1170	8882											
SLC25A44	9673	broad.mit.edu	37	chr1	156169976	156169976	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtaacacagtcaaatcacTggtggctggtggctcagcct	12	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156169976T>G	ENST00000359511.4	+	2	510	c.338T>G	c.(337-339)cTg>cGg	p.L113R	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.L113R	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	113					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GTCAAATCACTGGTGGCTGGT	0.517													False	0	False	1:156169976	0	G	156169976	T	G	156169976	3	3	88	1	0	0	0	0	1	0	0	0	14589	1580	55	4	340	4	SLC25A44	1	156169976	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39625	156169976	93080645	1171	8883											
PMF1	11243	broad.mit.edu	37	chr1	156203496	156203496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaaattgtggaagaaggCaaagtccgcaaagagccagc	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156203496C>T	ENST00000368277.3	+	3	354	c.345C>T	c.(343-345)ggC>ggT	p.G115G	PMF1_ENST00000567140.1_Silent_p.G115G|PMF1-BGLAP_ENST00000490491.1_Silent_p.G115G|PMF1_ENST00000565805.1_Silent_p.G115G|PMF1_ENST00000368279.3_Silent_p.G115G|PMF1-BGLAP_ENST00000320139.5_Silent_p.G115G|PMF1_ENST00000368273.4_Silent_p.G117G|PMF1-BGLAP_ENST00000368276.4_Silent_p.G115G	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					TGGAAGAAGGCAAAGTCCGCA	0.458													False	0	True	1:156203496	0	T	156203496	C	T	156203496	2	4	88	1	0	0	0	0	0	0	0	1	12202	697	25	2		2	PMF1	1	156203496	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33520	156203496	93047125	1172	8884											
PMF1	11243	broad.mit.edu	37	chr1	156209359	156209359	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctacacagagaacagagGgagctggttgctgtgctgag	15	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156209359G>T	ENST00000368277.3	+	5	594	c.585G>T	c.(583-585)agG>agT	p.R195S	PMF1_ENST00000567140.1_Intron|PMF1-BGLAP_ENST00000490491.1_Intron|PMF1_ENST00000565805.1_Intron|PMF1_ENST00000368279.3_Missense_Mutation_p.G175V|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1_ENST00000368273.4_Missense_Mutation_p.R197S|PMF1-BGLAP_ENST00000368276.4_Intron	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					GAGAACAGAGGGAGCTGGTTG	0.567													False	0	True	1:156209359	0	T	156209359	G	T	156209359	3	4	88	1	0	0	0	0	1	0	0	0	12202	1223	43	3	603	3	PMF1	1	156209359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5863	156209359	93041262	1173	8885											
SMG5	23381	broad.mit.edu	37	chr1	156221200	156221200	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctaaaatgttaccaggcaTctgcatcctgcctcttcagc	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156221200T>C	ENST00000361813.5	-	20	2966	c.2822A>G	c.(2821-2823)gAt>gGt	p.D941G	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	941	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTACCAGGCATCTGCATCCTG	0.547													False	0	False	1:156221200	0	C	156221200	T	C	156221200	3	2	88	1	0	0	0	0	1	0	0	0	14876	1435	50	4	240	4	SMG5	1	156221200	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11841	156221200	93029421	1174	8886											
SMG5	23381	broad.mit.edu	37	chr1	156238182	156238182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggttcccataggctccCtcaaaggacacttctgactg	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156238182C>A	ENST00000361813.5	-	8	882	c.738G>T	c.(736-738)gaG>gaT	p.E246D	SMG5_ENST00000368267.5_Missense_Mutation_p.E246D	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	246					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CATAGGCTCCCTCAAAGGACA	0.498													False	0	True	1:156238182	0	A	156238182	C	A	156238182	3	1	88	1	0	0	0	0	1	0	0	0	14876	680	24	3	2372	3	SMG5	1	156238182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16982	156238182	93012439	1175	8887											
SMG5	23381	broad.mit.edu	37	chr1	156247016	156247016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggcacattccaaagtgCtccggctgtggatgtgctac	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156247016C>A	ENST00000361813.5	-	4	458	c.314G>T	c.(313-315)aGc>aTc	p.S105I	SMG5_ENST00000368267.5_Missense_Mutation_p.S105I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	105					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTCCAAAGTGCTCCGGCTGTG	0.522													False	0	False	1:156247016	0	A	156247016	C	A	156247016	3	1	88	1	0	0	0	0	1	0	0	0	14876	797	28	3	2812	3	SMG5	1	156247016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8834	156247016	93003605	1176	8888											
C1orf85	112770	broad.mit.edu	37	chr1	156263838	156263838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccggtgcatattcatcgtCgatggagtgctgctcctgca	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156263838C>T	ENST00000362007.1	-	4	795	c.769G>A	c.(769-771)Gac>Aac	p.D257N		NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	257					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TATTCATCGTCGATGGAGTGC	0.587													False	0	False	1:156263838	0	T	156263838	C	T	156263838	3	4	88	1	0	0	0	0	1	0	0	0	2078	884	31	1	463	1	C1orf85	1	156263838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16822	156263838	92986783	1177	8889											
VHLL	391104	broad.mit.edu	37	chr1	156268967	156268967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaacccaccccgttccccGctctccagggcattacctcc	5	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156268967G>A	ENST00000339922.3	-	1	461	c.14C>T	c.(13-15)gCg>gTg	p.A5V		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	5					protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCCGTTCCCCGCTCTCCAGGG	0.602													False	0	True	1:156268967	0	A	156268967	G	A	156268967	3	1	88	1	0	0	0	0	1	0	0	0	17247	1087	38	1	409	1	VHLL	1	156268967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5129	156268967	92981654	1178	8890											
CCT3	7203	broad.mit.edu	37	chr1	156279038	156279038	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgccggctctggtcatcGcctttctttttgtggcctga	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156279038G>A	ENST00000295688.3	-	14	1870	c.1590C>T	c.(1588-1590)ggC>ggT	p.G530G	CCT3_ENST00000368259.2_Silent_p.G492G|CCT3_ENST00000472765.2_Silent_p.G485G|CCT3_ENST00000368261.3_Silent_p.G485G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	530					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTGGTCATCGCCTTTCTTTT	0.527													False	0	False	1:156279038	0	A	156279038	G	A	156279038	2	1	88	1	0	0	0	0	0	0	0	1	2977	1074	38	1		1	CCT3	1	156279038	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10071	156279038	92971583	1179	8891											
CCT3	7203	broad.mit.edu	37	chr1	156288797	156288797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaggagtcttcaatgatGcctccaggtatctgaacaaa	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156288797G>A	ENST00000295688.3	-	8	901	c.621C>T	c.(619-621)ggC>ggT	p.G207G	CCT3_ENST00000368259.2_Silent_p.G169G|CCT3_ENST00000472765.2_Silent_p.G162G|CCT3_ENST00000368261.3_Silent_p.G162G	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	207					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTCAATGATGCCTCCAGGTA	0.443													False	0	False	1:156288797	0	A	156288797	G	A	156288797	2	1	88	1	0	0	0	0	0	0	0	1	2977	1306	46	2		2	CCT3	1	156288797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9759	156288797	92961824	1180	8892											
CCT3	7203	broad.mit.edu	37	chr1	156303409	156303409	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctaatttcgatcatggacTtggccgctggatgctggact	13	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156303409T>C	ENST00000295688.3	-	5	513	c.233A>G	c.(232-234)aAg>aGg	p.K78R	CCT3_ENST00000368259.2_Missense_Mutation_p.K40R|CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000472765.2_Missense_Mutation_p.K33R|CCT3_ENST00000368261.3_Missense_Mutation_p.K33R	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	78					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GATCATGGACTTGGCCGCTGG	0.438													False	0	False	1:156303409	0	C	156303409	T	C	156303409	3	2	88	1	0	0	0	0	1	0	0	0	2977	1609	56	4	1444	4	CCT3	1	156303409	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14612	156303409	92947212	1181	8893											
RHBG	57127	broad.mit.edu	37	chr1	156339202	156339202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaaccacagtaacgcggaCaatgaattttactttcgcta	7	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156339202C>T	ENST00000368249.1	+	1	200	c.162C>T	c.(160-162)gaC>gaT	p.D54D	RHBG_ENST00000368246.2_Silent_p.D54D|RHBG_ENST00000255013.3_5'UTR|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000537040.1_Silent_p.D54D	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	54					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GTAACGCGGACAATGAATTTT	0.582													False	0	False	1:156339202	0	T	156339202	C	T	156339202	2	4	88	1	0	0	0	0	0	0	0	1	13403	477	17	2		2	RHBG	1	156339202	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35793	156339202	92911419	1182	8894											
RHBG	57127	broad.mit.edu	37	chr1	156347099	156347099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccgctgcaggcttccaGgacgtgcatgccatggtctt	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156347099G>T	ENST00000368249.1	+	2	233	c.195G>T	c.(193-195)caG>caT	p.Q65H	RHBG_ENST00000368246.2_Missense_Mutation_p.Q65H|RHBG_ENST00000255013.3_5'UTR|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000400992.2_5'UTR|RHBG_ENST00000537040.1_Intron	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	65					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAGGCTTCCAGGACGTGCATG	0.637													False	0	False	1:156347099	0	T	156347099	G	T	156347099	3	4	88	1	0	0	0	0	1	0	0	0	13403	991	35	3	201	3	RHBG	1	156347099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7897	156347099	92903522	1183	8895											
MEF2D	4209	broad.mit.edu	37	chr1	156437841	156437841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcctcaggctctggggCtgggcgcagcaggcccagtg	16	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156437841C>T	ENST00000348159.4	-	11	1978	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	MEF2D_ENST00000368240.2_Missense_Mutation_p.A493T|MEF2D_ENST00000340875.5_Missense_Mutation_p.A499T|MEF2D_ENST00000360595.3_Missense_Mutation_p.A493T|MEF2D_ENST00000353795.3_Missense_Mutation_p.A454T|MEF2D_ENST00000464356.2_Missense_Mutation_p.A492T	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	500					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCTCTGGGGCTGGGCGCAGC	0.647													False	0	True	1:156437841	0	T	156437841	C	T	156437841	3	4	88	1	0	0	0	0	1	0	0	0	9525	797	28	2	75	2	MEF2D	1	156437841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90742	156437841	92812780	1184	8896											
IQGAP3	128239	broad.mit.edu	37	chr1	156499988	156499988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggttccgcaggacgcgcCgctgcttctctgccagtggc	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156499988C>T	ENST00000361170.2	-	34	4323	c.4313G>A	c.(4312-4314)cGg>cAg	p.R1438Q		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1438					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGACGCGCCGCTGCTTCTC	0.642													False	0	False	1:156499988	0	T	156499988	C	T	156499988	3	4	88	1	0	0	0	0	1	0	0	0	7866	652	23	1	602	1	IQGAP3	1	156499988	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62147	156499988	92750633	1185	8897											
IQGAP3	128239	broad.mit.edu	37	chr1	156501021	156501021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggaactgtatgatatcGgccaacagctgcttggtgct	13	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156501021G>A	ENST00000361170.2	-	33	4132	c.4122C>T	c.(4120-4122)gcC>gcT	p.A1374A		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1374					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTATGATATCGGCCAACAGCT	0.592													False	0	False	1:156501021	0	A	156501021	G	A	156501021	2	1	88	1	0	0	0	0	0	0	0	1	7866	1103	39	1		1	IQGAP3	1	156501021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1033	156501021	92749600	1186	8898											
IQGAP3	128239	broad.mit.edu	37	chr1	156504303	156504303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccaagacctgaacttgaGgtgtgtttcctccagatagt	10	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156504303G>A	ENST00000361170.2	-	29	3740	c.3730C>T	c.(3730-3732)Ctc>Ttc	p.L1244F		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1244					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGAACTTGAGGTGTGTTTCC	0.562													False	0	True	1:156504303	0	A	156504303	G	A	156504303	3	1	88	1	0	0	0	0	1	0	0	0	7866	1000	35	2	1205	2	IQGAP3	1	156504303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3282	156504303	92746318	1187	8899											
TTC24	164118	broad.mit.edu	37	chr1	156552183	156552183	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgccctcggcaactaTcaggaagctcgggagtttca	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156552183T>G	ENST00000368236.3	+	3	903	c.867T>G	c.(865-867)taT>taG	p.Y289*	TTC24_ENST00000368237.3_Nonsense_Mutation_p.Y289*	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	289							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGGCAACTATCAGGAAGCTC	0.617													False	0	False	1:156552183	0	G	156552183	T	G	156552183	4	3	88	1	0	0	0	0	0	1	0	0	16776	1442	50	4	873	4	TTC24	1	156552183	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47880	156552183	92698438	1188	8900											
APOA1BP	128240	broad.mit.edu	37	chr1	156563698	156563698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgtggagaagggaaatgCtggagggatccagccagact	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156563698C>T	ENST00000368235.3	+	6	732	c.689C>T	c.(688-690)gCt>gTt	p.A230V	APOA1BP_ENST00000368234.3_Silent_p.C211C	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	230	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGGGAAATGCTGGAGGGATC	0.532													False	0	False	1:156563698	0	T	156563698	C	T	156563698	3	4	88	1	0	0	0	0	1	0	0	0	783	797	28	2	711	2	APOA1BP	1	156563698	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11515	156563698	92686923	1189	8901											
BCAN	63827	broad.mit.edu	37	chr1	156617305	156617305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgccccacaggggtcGtctttctctaccgagagggc	11	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156617305G>A	ENST00000329117.5	+	4	808	c.472G>A	c.(472-474)Gtc>Atc	p.V158I	BCAN_ENST00000361588.5_Missense_Mutation_p.V158I|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican		Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAGGGGTCGTCTTTCTCTA	0.627													False	0	False	1:156617305	0	A	156617305	G	A	156617305	3	1	88	1	0	0	0	0	1	0	0	0	1349	1145	40	1	482	1	BCAN	1	156617305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53607	156617305	92633316	1190	8902											
BCAN	63827	broad.mit.edu	37	chr1	156618630	156618630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccccaataagcacagccGcttcaacgtctactgcttcc	5	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156618630G>A	ENST00000329117.5	+	6	1376	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	BCAN_ENST00000361588.5_Missense_Mutation_p.R347H|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican		Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACAGCCGCTTCAACGTC	0.572													False	0	False	1:156618630	0	A	156618630	G	A	156618630	3	1	88	1	0	0	0	0	1	0	0	0	1349	1087	38	1	1058	1	BCAN	1	156618630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1325	156618630	92631991	1191	8903											
NES	10763	broad.mit.edu	37	chr1	156639369	156639369	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctccaagttgggaccctgGccattaacaccaatgatgtc	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156639369G>T	ENST00000368223.3	-	4	4743	c.4611C>A	c.(4609-4611)ggC>ggA	p.G1537G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1537	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGGACCCTGGCCATTAACAC	0.577													False	0	False	1:156639369	0	T	156639369	G	T	156639369	2	4	88	1	0	0	0	0	0	0	0	1	10405	1190	42	3		3	NES	1	156639369	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20739	156639369	92611252	1192	8904											
NES	10763	broad.mit.edu	37	chr1	156639791	156639791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctgcaggatccagtaGcagctggggcacctggccca	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156639791G>A	ENST00000368223.3	-	4	4321	c.4189C>T	c.(4189-4191)Cta>Tta	p.L1397L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1397	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGATCCAGTAGCAGCTGGGGC	0.602													False	0	False	1:156639791	0	A	156639791	G	A	156639791	2	1	88	1	0	0	0	0	0	0	0	1	10405	962	34	2		2	NES	1	156639791	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	422	156639791	92610830	1193	8905											
NES	10763	broad.mit.edu	37	chr1	156640644	156640644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcttccctggtcagatgGcctgggtcccccagccctcc	9	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156640644G>A	ENST00000368223.3	-	4	3468	c.3336C>T	c.(3334-3336)ggC>ggT	p.G1112G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1112	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGTCAGATGGCCTGGGTCCC	0.642													False	0	False	1:156640644	0	A	156640644	G	A	156640644	2	1	88	1	0	0	0	0	0	0	0	1	10405	1190	42	2		2	NES	1	156640644	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	853	156640644	92609977	1194	8906											
NES	10763	broad.mit.edu	37	chr1	156641102	156641102	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggctttcctgagccagttCttggtccttctccaccgtat	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641102C>A	ENST00000368223.3	-	4	3010	c.2878G>T	c.(2878-2880)Gaa>Taa	p.E960*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	960	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAGCCAGTTCTTGGTCCTTC	0.567													False	0	False	1:156641102	0	A	156641102	C	A	156641102	4	1	88	1	0	0	0	0	0	1	0	0	10405	922	32	3	1991	3	NES	1	156641102	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	458	156641102	92609519	1195	8907											
NES	10763	broad.mit.edu	37	chr1	156641406	156641406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctagaggattcattgcCccctgatttatttcttctgg	7	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641406C>T	ENST00000368223.3	-	4	2706	c.2574G>A	c.(2572-2574)ggG>ggA	p.G858G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	858	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780).	brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GATTCATTGCCCCCTGATTTA	0.448													False	0	True	1:156641406	0	T	156641406	C	T	156641406	2	4	88	1	0	0	0	0	0	0	0	1	10405	610	22	2		2	NES	1	156641406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304	156641406	92609215	1196	8908											
NES	10763	broad.mit.edu	37	chr1	156641882	156641882	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcttcaagagacctcaGgggttcctgattctcctttg	8	12	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641882G>T	ENST00000368223.3	-	4	2230	c.2098C>A	c.(2098-2100)Ctg>Atg	p.L700M		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	700	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGACCTCAGGGGTTCCTGA	0.468													False	0	True	1:156641882	0	T	156641882	G	T	156641882	3	4	88	1	0	0	0	0	1	0	0	0	10405	991	35	3	2771	3	NES	1	156641882	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	476	156641882	92608739	1197	8909											
CRABP2	1382	broad.mit.edu	37	chr1	156670843	156670843	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcagcatcacattcacCcctgtggggagagaggagag	12	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156670843C>T	ENST00000368222.3	-	2	226	c.72G>A	c.(70-72)ggG>ggA	p.G24G	CRABP2_ENST00000368221.1_Splice_Site_p.G24G	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	24					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	TCACATTCACCCCTGTGGGGA	0.542													False	0	True	1:156670843	0	T	156670843	C	T	156670843	5	4	88	1	0	0	0	0	0	0	1	0	3867	637	22	2	356	2	CRABP2	1	156670843	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28961	156670843	92579778	1198	8910											
HDGF	3068	broad.mit.edu	37	chr1	156714810	156714810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggtggctcacctgatagccgGaagccttgacagtagggttg	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156714810G>T	ENST00000357325.5	-	3	607	c.293C>A	c.(292-294)tCc>tAc	p.S98Y	HDGF_ENST00000368209.5_Missense_Mutation_p.S91Y|HDGF_ENST00000537739.1_Missense_Mutation_p.S98Y|HDGF_ENST00000368206.5_Missense_Mutation_p.S114Y|HDGF_ENST00000416666.2_Missense_Mutation_p.S66Y|HDGF_ENST00000465180.1_5'UTR	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	98					cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTGATAGCCGGAAGCCTTGAC	0.587													False	0	False	1:156714810	0	T	156714810	G	T	156714810	3	4	88	1	0	0	0	0	1	0	0	0	7065	1174	41	3	445	3	HDGF	1	156714810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43967	156714810	92535811	1199	8911											
PRCC	5546	broad.mit.edu	37	chr1	156764479	156764479	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagcggctgcagggcaagaGgaaccgagggagagaagaaa	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156764479G>T	ENST00000271526.4	+	5	1474	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	PRCC_ENST00000353233.3_Missense_Mutation_p.R369M	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	401					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGGCAAGAGGAACCGAGGG	0.478			T	TFE3	papillary renal								False	0	False	1:156764479	0	T	156764479	G	T	156764479	3	4	88	1	0	0	0	0	1	0	0	0	12523	1000	35	3	1220	3	PRCC	1	156764479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49669	156764479	92486142	1200	8912											
SH2D2A	9047	broad.mit.edu	37	chr1	156779246	156779246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggcagctgaggtttggCggggatgggaggcttgggcc	23	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156779246C>T	ENST00000392306.2	-	7	920	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	SH2D2A_ENST00000368199.3_Missense_Mutation_p.A251T|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A233T	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	251	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGAGGTTTGGCGGGGATGGGA	0.637													False	0	True	1:156779246	0	T	156779246	C	T	156779246	3	4	88	1	0	0	0	0	1	0	0	0	14313	768	27	1	426	1	SH2D2A	1	156779246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14767	156779246	92471375	1201	8913											
INSRR	3645	broad.mit.edu	37	chr1	156813243	156813243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaggcgctgaagtactctgGattcacagaagcatacaggg	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156813243G>T	ENST00000368195.3	-	16	3268	c.2872C>A	c.(2872-2874)Cca>Aca	p.P958T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	958					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGTACTCTGGATTCACAGAA	0.537													False	0	False	1:156813243	0	T	156813243	G	T	156813243	3	4	88	1	0	0	0	0	1	0	0	0	7824	1174	41	3	1048	3	INSRR	1	156813243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33997	156813243	92437378	1202	8914											
INSRR	3645	broad.mit.edu	37	chr1	156819222	156819222	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaccctagctgttgtaggttCtggttgtccagcacgtagag	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156819222C>T	ENST00000368195.3	-	6	1656	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	420					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTTGTAGGTTCTGGTTGTCCA	0.622													False	0	False	1:156819222	0	T	156819222	C	T	156819222	2	4	88	1	0	0	0	0	0	0	0	1	7824	912	32	2		2	INSRR	1	156819222	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5979	156819222	92431399	1203	8915											
NTRK1	4914	broad.mit.edu	37	chr1	156849945	156849945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtaccagctctccaacaCggaggtcagccccggcccat	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156849945C>T	ENST00000368196.3	+	15	2303	c.2183C>T	c.(2182-2184)aCg>aTg	p.T728M	NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000392302.2_Missense_Mutation_p.T698M|NTRK1_ENST00000358660.3_Missense_Mutation_p.T731M|NTRK1_ENST00000524377.1_Missense_Mutation_p.T734M	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	734	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CTCTCCAACACGGAGGTCAGC	0.622			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			False	0	False	1:156849945	0	T	156849945	C	T	156849945	3	4	88	1	0	0	0	0	1	0	0	0	10774	536	19	1	2393	1	NTRK1	1	156849945	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30723	156849945	92400676	1204	8916											
PEAR1	375033	broad.mit.edu	37	chr1	156876547	156876547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggtctgcagcccccgaaCtgccttcagccctgtacccc	8	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156876547C>T	ENST00000338302.3	+	7	744	c.519C>T	c.(517-519)aaC>aaT	p.N173N	PEAR1_ENST00000292357.7_Silent_p.N173N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	173						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCCCCCGAACTGCCTTCAGC	0.632													False	0	False	1:156876547	0	T	156876547	C	T	156876547	2	4	88	1	0	0	0	0	0	0	0	1	11780	564	20	2		2	PEAR1	1	156876547	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26602	156876547	92374074	1205	8917											
ARHGEF11	9826	broad.mit.edu	37	chr1	156906623	156906623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccatcctcagggcaggGccccagttcatggctgttcc	10	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156906623G>A	ENST00000368194.3	-	40	5654	c.4615C>T	c.(4615-4617)Ccc>Tcc	p.P1539S	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.P915S|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.P1499S	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1499					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCAGGGCAGGGCCCCAGTTCA	0.572													False	0	True	1:156906623	0	A	156906623	G	A	156906623	3	1	88	1	0	0	0	0	1	0	0	0	898	1203	42	2	81	2	ARHGEF11	1	156906623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30076	156906623	92343998	1206	8918											
ARHGEF11	9826	broad.mit.edu	37	chr1	156913859	156913859	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcctgtttctgtagcaGcactaggaggtcctccagca	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156913859G>T	ENST00000368194.3	-	32	4142	c.3103C>A	c.(3103-3105)Ctg>Atg	p.L1035M	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.L411M|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.L995M	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	995	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCTGTAGCAGCACTAGGAGG	0.562													False	0	False	1:156913859	0	T	156913859	G	T	156913859	3	4	88	1	0	0	0	0	1	0	0	0	898	962	34	3	1625	3	ARHGEF11	1	156913859	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7236	156913859	92336762	1207	8919											
ARHGEF11	9826	broad.mit.edu	37	chr1	156928923	156928923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcatcttcgctgttccGcaggcgcgagtctgtagtgg	15	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156928923G>A	ENST00000368194.3	-	16	2333	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R392W	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	392	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCGCTGTTCCGCAGGCGCGAG	0.577													False	0	False	1:156928923	0	A	156928923	G	A	156928923	3	1	88	1	0	0	0	0	1	0	0	0	898	1086	38	1	3498	1	ARHGEF11	1	156928923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15064	156928923	92321698	1208	8920											
ARHGEF11	9826	broad.mit.edu	37	chr1	156933060	156933060	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggtgagctggccgagActtcagtttctccagatcct	10	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156933060A>C	ENST00000368194.3	-	13	2114	c.1075T>G	c.(1075-1077)Tct>Gct	p.S359A	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S319A	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	319	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGGCCGAGACTTCAGTTTC	0.537													False	0	False	1:156933060	0	C	156933060	A	C	156933060	3	2	88	1	0	0	0	0	1	0	0	0	898	275	10	4	3729	4	ARHGEF11	1	156933060	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4137	156933060	92317561	1209	8921											
ETV3L	440695	broad.mit.edu	37	chr1	157069139	157069139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagcctggggacgactcGgctttgtaggcccaatcagg	16	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157069139G>A	ENST00000454449.2	-	2	374	c.90C>T	c.(88-90)gcC>gcT	p.A30A		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGACGACTCGGCTTTGTAGG	0.647													False	0	False	1:157069139	0	A	157069139	G	A	157069139	2	1	88	1	0	0	0	0	0	0	0	1	5312	1103	39	1		1	ETV3L	1	157069139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136079	157069139	92181482	1210	8922											
FCRL5	83416	broad.mit.edu	37	chr1	157490923	157490923	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtttaaggacgctcctccaGagggggacgacctatttcct	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157490923G>A	ENST00000361835.3	-	11	2556	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.S800F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	800	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGCTCCTCCAGAGGGGGACGA	0.577													False	0	False	1:157490923	0	A	157490923	G	A	157490923	3	1	88	1	0	0	0	0	1	0	0	0	5838	942	33	2	562	2	FCRL5	1	157490923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421784	157490923	91759698	1211	8923											
FCRL5	83416	broad.mit.edu	37	chr1	157494130	157494130	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaccattgtctgcctcacaGgagtagattccagaatgttc	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157494130G>T	ENST00000361835.3	-	10	2335	c.2178C>A	c.(2176-2178)tcC>tcA	p.S726S	FCRL5_ENST00000368190.3_Silent_p.S726S|FCRL5_ENST00000368191.3_Silent_p.S641S|FCRL5_ENST00000356953.4_Silent_p.S726S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	726	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTGCCTCACAGGAGTAGATTC	0.542													False	0	False	1:157494130	0	T	157494130	G	T	157494130	2	4	88	1	0	0	0	0	0	0	0	1	5838	987	35	3		3	FCRL5	1	157494130	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3207	157494130	91756491	1212	8924											
FCRL5	83416	broad.mit.edu	37	chr1	157497598	157497598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattgggggagagcctctcGgggcctcacagtgaagctcc	16	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157497598G>A	ENST00000361835.3	-	9	1926	c.1769C>T	c.(1768-1770)cCg>cTg	p.P590L	FCRL5_ENST00000368190.3_Missense_Mutation_p.P590L|FCRL5_ENST00000368191.3_Missense_Mutation_p.P505L|FCRL5_ENST00000356953.4_Missense_Mutation_p.P590L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	590	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity	p.P590L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGCCTCTCGGGGCCTCACA	0.592													False	0	True	1:157497598	0	A	157497598	G	A	157497598	3	1	88	1	0	0	0	0	1	0	0	0	5838	1116	39	1	1200	1	FCRL5	1	157497598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3468	157497598	91753023	1213	8925											
FCRL5	83416	broad.mit.edu	37	chr1	157504525	157504525	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggacactcttcccacagaGggtgttgagctgctccacag	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157504525G>T	ENST00000361835.3	-	8	1717	c.1560C>A	c.(1558-1560)ccC>ccA	p.P520P	FCRL5_ENST00000368190.3_Silent_p.P520P|FCRL5_ENST00000368191.3_Silent_p.P435P|FCRL5_ENST00000368189.3_Silent_p.P520P|FCRL5_ENST00000356953.4_Silent_p.P520P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	520	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTCCCACAGAGGGTGTTGAGC	0.512													False	0	True	1:157504525	0	T	157504525	G	T	157504525	2	4	88	1	0	0	0	0	0	0	0	1	5838	987	35	3		3	FCRL5	1	157504525	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6927	157504525	91746096	1214	8926											
FCRL5	83416	broad.mit.edu	37	chr1	157514222	157514222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctctgaagaagcggaacCggagcgggacatctgacctc	12	12	2	3	rs138632023		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157514222C>T	ENST00000361835.3	-	5	831	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	FCRL5_ENST00000368190.3_Missense_Mutation_p.R225Q|FCRL5_ENST00000368191.3_Missense_Mutation_p.R140Q|FCRL5_ENST00000368189.3_Missense_Mutation_p.R225Q|FCRL5_ENST00000356953.4_Missense_Mutation_p.R225Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	225	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAAGCGGAACCGGAGCGGGAC	0.562													False	0	False	1:157514222	0	T	157514222	C	T	157514222	3	4	88	1	0	0	0	0	1	0	0	0	5838	652	23	1	2311	1	FCRL5	1	157514222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9697	157514222	91736399	1215	8927											
FCRL4	83417	broad.mit.edu	37	chr1	157551412	157551412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctcccgcggcgacaagGccatctctgttgcctggggt	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157551412G>A	ENST00000271532.1	-	7	1293	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	386						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CGGCGACAAGGCCATCTCTGT	0.582													False	0	False	1:157551412	0	A	157551412	G	A	157551412	2	1	88	1	0	0	0	0	0	0	0	1	5837	1190	42	2		2	FCRL4	1	157551412	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37190	157551412	91699209	1216	8928											
FCRL3	115352	broad.mit.edu	37	chr1	157660291	157660291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcctgggccccgggagCcctgagggtgaggacggggc	19	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157660291C>T	ENST00000368184.3	-	9	1735	c.1444G>A	c.(1444-1446)Gct>Act	p.A482T	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.A482T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	482	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCCCCGGGAGCCCTGAGGGTG	0.537													False	0	True	1:157660291	0	T	157660291	C	T	157660291	3	4	88	1	0	0	0	0	1	0	0	0	5836	739	26	2	788	2	FCRL3	1	157660291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108879	157660291	91590330	1217	8929											
FCRL3	115352	broad.mit.edu	37	chr1	157667073	157667073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccagcccaatccgaggGtctggctatctctgaagagg	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157667073G>A	ENST00000368184.3	-	6	992	c.701C>T	c.(700-702)aCc>aTc	p.T234I	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.T234I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	234	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CAATCCGAGGGTCTGGCTATC	0.582													False	0	True	1:157667073	0	A	157667073	G	A	157667073	3	1	88	1	0	0	0	0	1	0	0	0	5836	1261	44	2	1543	2	FCRL3	1	157667073	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6782	157667073	91583548	1218	8930											
FCRL1	115350	broad.mit.edu	37	chr1	157771268	157771268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctatttttcttttgaggCcgtagcaaaataataaggcc	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157771268C>T	ENST00000368176.3	-	6	1053	c.986G>A	c.(985-987)gGc>gAc	p.G329D	FCRL1_ENST00000491942.1_Missense_Mutation_p.G329D|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	329						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTTTTGAGGCCGTAGCAAAA	0.443													False	0	False	1:157771268	0	T	157771268	C	T	157771268	3	4	88	1	0	0	0	0	1	0	0	0	5834	739	26	2	393	2	FCRL1	1	157771268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104195	157771268	91479353	1219	8931											
CD5L	922	broad.mit.edu	37	chr1	157804531	157804531	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggactggggagaaagagctCtctgggtctgaggggaaaga	19	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157804531C>T	ENST00000368174.4	-	4	480	c.384G>A	c.(382-384)gaG>gaA	p.E128E		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	128					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGAAAGAGCTCTCTGGGTCTG	0.562													False	0	True	1:157804531	0	T	157804531	C	T	157804531	2	4	88	1	0	0	0	0	0	0	0	1	3050	912	32	2		2	CD5L	1	157804531	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33263	157804531	91446090	1220	8932											
KIRREL	55243	broad.mit.edu	37	chr1	158064849	158064849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagccactcgattctcctAcacctcccagcactcggact	5	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158064849A>G	ENST00000368172.1	+	11	1667	c.1655A>G	c.(1654-1656)tAc>tGc	p.Y552C	KIRREL_ENST00000360089.4_Missense_Mutation_p.Y574C|KIRREL_ENST00000359209.6_Missense_Mutation_p.Y738C|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y635C|KIRREL_ENST00000368173.3_Missense_Mutation_p.Y754C|KIRREL_ENST00000416935.2_Missense_Mutation_p.Y638C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	738						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CGATTCTCCTACACCTCCCAG	0.652													False	0	False	1:158064849	0	G	158064849	A	G	158064849	3	3	88	1	0	0	0	0	1	0	0	0	8374	391	14	4	2271	4	KIRREL	1	158064849	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	260318	158064849	91185772	1221	8933											
CD1D	912	broad.mit.edu	37	chr1	158152911	158152911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgtcgggtgaagcacaGcagtctagagggccaggaca	15	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158152911G>A	ENST00000368171.3	+	5	1350	c.851G>A	c.(850-852)aGc>aAc	p.S284N		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	284	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTGAAGCACAGCAGTCTAGAG	0.607													False	0	False	1:158152911	0	A	158152911	G	A	158152911	3	1	88	1	0	0	0	0	1	0	0	0	3000	971	34	2	865	2	CD1D	1	158152911	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88062	158152911	91097710	1222	8934											
CD1A	909	broad.mit.edu	37	chr1	158225026	158225026	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgttttcctgtgcccctggTccaggggaaacttcagcaat	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158225026T>C	ENST00000289429.5	+	2	744	c.211T>C	c.(211-213)Tcc>Ccc	p.S71P		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	71				WS -> V (in Ref. 7; AAA51933).	antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTGCCCCTGGTCCAGGGGAAA	0.488													False	0	False	1:158225026	0	C	158225026	T	C	158225026	3	2	88	1	0	0	0	0	1	0	0	0	2997	1667	58	4	217	4	CD1A	1	158225026	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72115	158225026	91025595	1223	8935											
CD1A	909	broad.mit.edu	37	chr1	158226772	158226772	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatctccgcgcaaccctggaGgtggccgctggggaggcagc	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158226772G>T	ENST00000289429.5	+	4	1334	c.801G>T	c.(799-801)gaG>gaT	p.E267D		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	267	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAACCCTGGAGGTGGCCGCTG	0.622													False	0	False	1:158226772	0	T	158226772	G	T	158226772	3	4	88	1	0	0	0	0	1	0	0	0	2997	991	35	3	815	3	CD1A	1	158226772	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1746	158226772	91023849	1224	8936											
CD1C	911	broad.mit.edu	37	chr1	158261152	158261152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctctttggattaactcGggagattcaagaccatgcaa	8	10	2	2	rs114534381	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158261152G>A	ENST00000368170.3	+	2	569	c.290G>A	c.(289-291)cGg>cAg	p.R97Q		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	97					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGATTAACTCGGGAGATTCAA	0.363													False	0	True	1:158261152	0	A	158261152	G	A	158261152	3	1	88	1	0	0	0	0	1	0	0	0	2999	1116	39	1	296	1	CD1C	1	158261152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34380	158261152	90989469	1225	8937											
CD1B	910	broad.mit.edu	37	chr1	158299257	158299257	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccacatccagggttgctcgGagataccatgtccagttagc	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158299257G>A	ENST00000368168.3	-	4	896	c.789C>T	c.(787-789)ctC>ctT	p.L263L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	263	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGGTTGCTCGGAGATACCATG	0.597													False	0	False	1:158299257	0	A	158299257	G	A	158299257	2	1	88	1	0	0	0	0	0	0	0	1	2998	1161	41	2		2	CD1B	1	158299257	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38105	158299257	90951364	1226	8938											
CD1B	910	broad.mit.edu	37	chr1	158299849	158299849	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccaatcctcctagagctcCcctcaggaagcttactatgg	7	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158299849C>A	ENST00000368168.3	-	3	507	c.400G>T	c.(400-402)Gga>Tga	p.G134*		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	134					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CCTAGAGCTCCCCTCAGGAAG	0.493													False	0	True	1:158299849	0	A	158299849	C	A	158299849	4	1	88	1	0	0	0	0	0	1	0	0	2998	632	22	3	617	3	CD1B	1	158299849	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	592	158299849	90950772	1227	8939											
CD1B	910	broad.mit.edu	37	chr1	158301164	158301164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactcttaccatgttcactgTtaccaccaggaaagagaaca	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158301164T>C	ENST00000368168.3	-	1	157	c.50A>G	c.(49-51)aAc>aGc	p.N17S		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	17					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATGTTCACTGTTACCACCAGG	0.478													False	0	False	1:158301164	0	C	158301164	T	C	158301164	3	2	88	1	0	0	0	0	1	0	0	0	2998	1725	60	4	975	4	CD1B	1	158301164	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1315	158301164	90949457	1228	8940											
CD1E	913	broad.mit.edu	37	chr1	158325793	158325793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgctgacgagacatggTatctccgagcaaccctggat	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158325793T>C	ENST00000444681.2	+	3	798	c.505T>C	c.(505-507)Tat>Cat	p.Y169H	CD1E_ENST00000368166.3_Missense_Mutation_p.Y79H|CD1E_ENST00000368161.3_Splice_Site|CD1E_ENST00000434258.1_Missense_Mutation_p.Y266H|CD1E_ENST00000368164.3_Splice_Site|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.Y178H|CD1E_ENST00000368160.3_Missense_Mutation_p.Y268H|CD1E_ENST00000452291.2_Missense_Mutation_p.Y79H|CD1E_ENST00000368167.3_Missense_Mutation_p.Y268H|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.Y178H|CD1E_ENST00000368155.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	268					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CGAGACATGGTATCTCCGAGC	0.602													False	0	False	1:158325793	0	C	158325793	T	C	158325793	3	2	88	1	0	0	0	0	1	0	0	0	3001	1652	57	4	816	4	CD1E	1	158325793	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24629	158325793	90924828	1229	8941											
OR10T2	128360	broad.mit.edu	37	chr1	158368954	158368954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaaggaaaaagaacagCtgggtggcacaggccatgaa	13	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158368954C>T	ENST00000334438.1	-	1	302	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAAAGAACAGCTGGGTGGCAC	0.502													False	0	False	1:158368954	0	T	158368954	C	T	158368954	2	4	88	1	0	0	0	0	0	0	0	1	10987	796	28	2		2	OR10T2	1	158368954	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43161	158368954	90881667	1230	8942											
OR10R2	343406	broad.mit.edu	37	chr1	158450047	158450047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgttcttcttccttggttTtgccattaccaactgcctgc	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158450047T>C	ENST00000368152.1	+	1	380	c.380T>C	c.(379-381)tTt>tCt	p.F127S	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTCCTTGGTTTTGCCATTACC	0.463													False	0	True	1:158450047	0	C	158450047	T	C	158450047	3	2	88	1	0	0	0	0	1	0	0	0	10985	1841	64	4	382	4	OR10R2	1	158450047	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81093	158450047	90800574	1231	8943											
OR10R2	343406	broad.mit.edu	37	chr1	158450303	158450303	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctggcttgtaccaacacAgatgttaacgaatttgtgat	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158450303A>C	ENST00000368152.1	+	1	636	c.636A>C	c.(634-636)acA>acC	p.T212T	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GTACCAACACAGATGTTAACG	0.383													False	0	False	1:158450303	0	C	158450303	A	C	158450303	2	2	88	1	0	0	0	0	0	0	0	1	10985	175	7	4		4	OR10R2	1	158450303	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	256	158450303	90800318	1232	8944											
OR6Y1	391112	broad.mit.edu	37	chr1	158517417	158517417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccatcttaatcatggcaGtcatgagtccacagaaccag	7	11	3	2	rs148583112		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517417G>A	ENST00000302617.3	-	1	478	c.479C>T	c.(478-480)aCt>aTt	p.T160I		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AATCATGGCAGTCATGAGTCC	0.468													False	0	False	1:158517417	0	A	158517417	G	A	158517417	3	1	88	1	0	0	0	0	1	0	0	0	11281	1029	36	2	500	2	OR6Y1	1	158517417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67114	158517417	90733204	1233	8945											
OR6Y1	391112	broad.mit.edu	37	chr1	158517519	158517519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaaatggctacatagcggTcaaaggccatgatagcaaga	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517519T>C	ENST00000302617.3	-	1	376	c.377A>G	c.(376-378)gAc>gGc	p.D126G		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TACATAGCGGTCAAAGGCCAT	0.468													False	0	False	1:158517519	0	C	158517519	T	C	158517519	3	2	88	1	0	0	0	0	1	0	0	0	11281	1667	58	4	602	4	OR6Y1	1	158517519	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	102	158517519	90733102	1234	8946											
OR6Y1	391112	broad.mit.edu	37	chr1	158517703	158517703	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggctcaagaagaagtAcatgggcttatgcagctgcc	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517703A>G	ENST00000302617.3	-	1	192	c.193T>C	c.(193-195)Tac>Cac	p.Y65H		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAAGAAGTACATGGGCTTA	0.463													False	0	False	1:158517703	0	G	158517703	A	G	158517703	3	3	88	1	0	0	0	0	1	0	0	0	11281	391	14	4	786	4	OR6Y1	1	158517703	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	184	158517703	90732918	1235	8947											
OR10X1	128367	broad.mit.edu	37	chr1	158548724	158548724	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagattattttttcaaggcAactgtgtttcccatcattct	5	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158548724A>G	ENST00000368150.1	-	1	965	c.966T>C	c.(964-966)gtT>gtC	p.V322V		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TTTTCAAGGCAACTGTGTTTC	0.428													False	0	False	1:158548724	0	G	158548724	A	G	158548724	2	3	88	1	0	0	0	0	0	0	0	1	10990	117	5	4		4	OR10X1	1	158548724	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31021	158548724	90701897	1236	8948											
OR10X1	128367	broad.mit.edu	37	chr1	158548816	158548816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagggggtaatgacagTataagggactgctatgagtg	17	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158548816T>C	ENST00000368150.1	-	1	873	c.874A>G	c.(874-876)Act>Gct	p.T292A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTAATGACAGTATAAGGGACT	0.433													False	0	False	1:158548816	0	C	158548816	T	C	158548816	3	2	88	1	0	0	0	0	1	0	0	0	10990	1638	57	4	101	4	OR10X1	1	158548816	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	92	158548816	90701805	1237	8949											
OR10Z1	128368	broad.mit.edu	37	chr1	158576821	158576821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaggcccgagtgagctgaGgatctttatcctcagtcttt	10	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158576821G>T	ENST00000361284.1	+	1	593	c.593G>T	c.(592-594)aGg>aTg	p.R198M		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGTGAGCTGAGGATCTTTATC	0.512													False	0	False	1:158576821	0	T	158576821	G	T	158576821	3	4	88	1	0	0	0	0	1	0	0	0	10991	1000	35	3	595	3	OR10Z1	1	158576821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28005	158576821	90673800	1238	8950											
SPTA1	6708	broad.mit.edu	37	chr1	158612750	158612750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcatcaatcagttgtgCtttgagagccttccacctag	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158612750C>T	ENST00000368147.4	-	32	4639	c.4459G>A	c.(4459-4461)Gca>Aca	p.A1487T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCAGTTGTGCTTTGAGAGCC	0.488													False	0	True	1:158612750	0	T	158612750	C	T	158612750	3	4	88	1	0	0	0	0	1	0	0	0	15198	797	28	2	2884	2	SPTA1	1	158612750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35929	158612750	90637871	1239	8951											
SPTA1	6708	broad.mit.edu	37	chr1	158617374	158617374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctgggcctcatttaggCtctccttacgatcctttgta	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158617374C>T	ENST00000368147.4	-	27	4031	c.3851G>A	c.(3850-3852)aGc>aAc	p.S1284N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATTTAGGCTCTCCTTACG	0.547													False	0	False	1:158617374	0	T	158617374	C	T	158617374	3	4	88	1	0	0	0	0	1	0	0	0	15198	797	28	2	3512	2	SPTA1	1	158617374	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4624	158617374	90633247	1240	8952											
SPTA1	6708	broad.mit.edu	37	chr1	158626413	158626413	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtctccaaatgaattgagatCtaatagaaaggcctcatgct	8	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158626413C>T	ENST00000368147.4	-	20	3019	c.2839G>A	c.(2839-2841)Gat>Aat	p.D947N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAATTGAGATCTAATAGAAAG	0.403													False	0	False	1:158626413	0	T	158626413	C	T	158626413	3	4	88	1	0	0	0	0	1	0	0	0	15198	913	32	2	4552	2	SPTA1	1	158626413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9039	158626413	90624208	1241	8953											
SPTA1	6708	broad.mit.edu	37	chr1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcaagatcattttgtcGcctagcagctcgagcacgga	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158627401G>A	ENST00000368147.4	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R891*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463													False	0	False	1:158627401	0	A	158627401	G	A	158627401	4	1	88	1	0	0	0	0	0	1	0	0	15198	1095	38	1	4724	1	SPTA1	1	158627401	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	988	158627401	90623220	1242	8954											
SPTA1	6708	broad.mit.edu	37	chr1	158631185	158631185	+	Missense_Mutation	SNP	C	C	T													attcagaagctttttggaagCaatcaggtcctttcctgcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631185C>T	ENST00000368147.4	-	18	2659	c.2479G>A	c.(2479-2481)Gct>Act	p.A827T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTTTTGGAAGCAATCAGGTCC	0.428													False	0	False	1:158631185	0	T	158631185	C	T	158631185	3	4	88	1	0	0	0	0	1	0	0	0	15198	710	25	2	4920	2	SPTA1	1	158631185	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3784	158631185	90619436	1243	8955	145	2									
SPTA1	6708	broad.mit.edu	37	chr1	158631186	158631186	+	Silent	SNP	A	A	G													ttcagaagctttttggaagcAatcaggtcctttcctgcaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631186A>G	ENST00000368147.4	-	18	2658	c.2478T>C	c.(2476-2478)atT>atC	p.I826I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTTTGGAAGCAATCAGGTCCT	0.428													False	0	False	1:158631186	0	G	158631186	A	G	158631186	2	3	88	1	0	0	0	0	0	0	0	1	15198	126	5	4		4	SPTA1	1	158631186	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1	158631186	90619435	1244	8956	145	2									
SPTA1	6708	broad.mit.edu	37	chr1	158636273	158636273	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgcagctgctggttggcctCatgcaactgggtccctggga	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158636273C>A	ENST00000368147.4	-	16	2233	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGTTGGCCTCATGCAACTGG	0.448													False	0	False	1:158636273	0	A	158636273	C	A	158636273	4	1	88	1	0	0	0	0	0	1	0	0	15198	835	29	3	5354	3	SPTA1	1	158636273	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5087	158636273	90614348	1245	8957											
SPTA1	6708	broad.mit.edu	37	chr1	158639514	158639514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataccccgtcacggatagcCttgatgttctctgaatcata	7	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158639514C>A	ENST00000368147.4	-	13	1842	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACGGATAGCCTTGATGTTCT	0.428													False	0	False	1:158639514	0	A	158639514	C	A	158639514	3	1	88	1	0	0	0	0	1	0	0	0	15198	680	24	3	5757	3	SPTA1	1	158639514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3241	158639514	90611107	1246	8958											
SPTA1	6708	broad.mit.edu	37	chr1	158641181	158641181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctcaaagtcttcatgCttctgaagaagggcttctgc	9	11	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158641181C>T	ENST00000368147.4	-	12	1731	c.1551G>A	c.(1549-1551)aaG>aaA	p.K517K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTCTTCATGCTTCTGAAGAA	0.468													False	0	False	1:158641181	0	T	158641181	C	T	158641181	2	4	88	1	0	0	0	0	0	0	0	1	15198	796	28	2		2	SPTA1	1	158641181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1667	158641181	90609440	1247	8959											
SPTA1	6708	broad.mit.edu	37	chr1	158650471	158650471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatttcttatgcagaacttCggtgcgctcccagtcttcac	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158650471C>T	ENST00000368147.4	-	5	760	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCAGAACTTCGGTGCGCTCC	0.463													False	0	False	1:158650471	0	T	158650471	C	T	158650471	3	4	88	1	0	0	0	0	1	0	0	0	15198	893	31	1	6871	1	SPTA1	1	158650471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9290	158650471	90600150	1248	8960											
SPTA1	6708	broad.mit.edu	37	chr1	158653211	158653211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaatcgttcttcccttgTtttttccagttcagacatga	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158653211T>C	ENST00000368147.4	-	3	520	c.340A>G	c.(340-342)Aca>Gca	p.T114A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.T114A(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTTCCCTTGTTTTTTCCAGT	0.378													False	0	True	1:158653211	0	C	158653211	T	C	158653211	3	2	88	1	0	0	0	0	1	0	0	0	15198	1725	60	4	7119	4	SPTA1	1	158653211	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2740	158653211	90597410	1249	8961											
OR6K2	81448	broad.mit.edu	37	chr1	158669633	158669633	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagcaatggctatatcccaGaacaaagagtaggtggcaga	12	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158669633G>T	ENST00000359610.2	-	1	853	c.810C>A	c.(808-810)ttC>ttA	p.F270L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTATATCCCAGAACAAAGAGT	0.423													False	0	False	1:158669633	0	T	158669633	G	T	158669633	3	4	88	1	0	0	0	0	1	0	0	0	11270	933	33	3	168	3	OR6K2	1	158669633	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16422	158669633	90580988	1250	8962											
OR6K2	81448	broad.mit.edu	37	chr1	158669909	158669909	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcactgggaggaagtcAcagaagatatgttcaaggtg	14	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158669909A>G	ENST00000359610.2	-	1	577	c.534T>C	c.(532-534)tgT>tgC	p.C178C		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GGAGGAAGTCACAGAAGATAT	0.478													False	0	False	1:158669909	0	G	158669909	A	G	158669909	2	3	88	1	0	0	0	0	0	0	0	1	11270	157	6	4		4	OR6K2	1	158669909	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	276	158669909	90580712	1251	8963											
OR6K6	128371	broad.mit.edu	37	chr1	158725615	158725615	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttttccactatcagaagaGggctggttgggctgggaaat	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158725615G>T	ENST00000368144.2	+	1	1106	c.1010G>T	c.(1009-1011)aGg>aTg	p.R337M		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	337					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TATCAGAAGAGGGCTGGTTGG	0.408													False	0	True	1:158725615	0	T	158725615	G	T	158725615	3	4	88	1	0	0	0	0	1	0	0	0	11272	1000	35	3	1012	3	OR6K6	1	158725615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55706	158725615	90525006	1252	8964											
OR6N1	128372	broad.mit.edu	37	chr1	158735907	158735907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttatagacgtatcagtgCaagccaaactcagcacagga	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158735907C>T	ENST00000335094.2	-	1	585	c.566G>A	c.(565-567)tGc>tAc	p.C189Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CGTATCAGTGCAAGCCAAACT	0.458													False	0	False	1:158735907	0	T	158735907	C	T	158735907	3	4	88	1	0	0	0	0	1	0	0	0	11274	710	25	2	375	2	OR6N1	1	158735907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10292	158735907	90514714	1253	8965											
MNDA	4332	broad.mit.edu	37	chr1	158813851	158813851	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccagcacatctgcagctgTggatcatcccccactacccc	7	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158813851T>G	ENST00000368141.4	+	4	770	c.509T>G	c.(508-510)gTg>gGg	p.V170G		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	170					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCTGCAGCTGTGGATCATCCC	0.483													False	0	False	1:158813851	0	G	158813851	T	G	158813851	3	3	88	1	0	0	0	0	1	0	0	0	9743	1696	59	4	519	4	MNDA	1	158813851	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77944	158813851	90436770	1254	8966											
PYHIN1	149628	broad.mit.edu	37	chr1	158911953	158911953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttcatgtgaaggttttaAacatcaacttgaagaggaaa	8	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158911953A>G	ENST00000368140.1	+	5	1011	c.766A>G	c.(766-768)Aac>Gac	p.N256D	PYHIN1_ENST00000392254.2_Missense_Mutation_p.N256D|PYHIN1_ENST00000392252.3_Missense_Mutation_p.N247D|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.N247D	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	256	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GAAGGTTTTAAACATCAACTT	0.328													False	0	True	1:158911953	0	G	158911953	A	G	158911953	3	3	88	1	0	0	0	0	1	0	0	0	12944	14	1	4	780	4	PYHIN1	1	158911953	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	98102	158911953	90338668	1255	8967											
PYHIN1	149628	broad.mit.edu	37	chr1	158913768	158913768	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaatgcatagtttcatccaGgtgagaaataaagaaacaaa	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158913768G>T	ENST00000368140.1	+	6	1436	c.1191G>T	c.(1189-1191)caG>caT	p.Q397H	PYHIN1_ENST00000392254.2_Splice_Site_p.Q397H|PYHIN1_ENST00000392252.3_Splice_Site_p.Q388H|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Splice_Site_p.Q388H	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	397	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GTTTCATCCAGGTGAGAAATA	0.338													False	0	False	1:158913768	0	T	158913768	G	T	158913768	5	4	88	1	0	0	0	0	0	0	1	0	12944	1014	35	3	1209	3	PYHIN1	1	158913768	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1815	158913768	90336853	1256	8968											
IFI16	3428	broad.mit.edu	37	chr1	158984471	158984471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcacttatgtctgtaaagAtgggaaaaaaatacaagaac	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158984471A>G	ENST00000430894.2	+	2	173	c.13A>G	c.(13-15)Atg>Gtg	p.M5V	IFI16_ENST00000448393.2_Start_Codon_SNP_p.M1V|IFI16_ENST00000368132.3_Start_Codon_SNP_p.M1V|IFI16_ENST00000359709.3_Start_Codon_SNP_p.M1V|IFI16_ENST00000340979.6_Start_Codon_SNP_p.M1V|IFI16_ENST00000368131.4_Start_Codon_SNP_p.M1V|IFI16_ENST00000295809.7_Start_Codon_SNP_p.M1V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	1	DAPIN.|Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GTCTGTAAAGATGGGAAAAAA	0.328													False	0	False	1:158984471	0	G	158984471	A	G	158984471	3	3	88	1	0	0	0	0	1	0	0	0	7561	333	12	4	3	4	IFI16	1	158984471	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70703	158984471	90266150	1257	8969											
IFI16	3428	broad.mit.edu	37	chr1	158988314	158988314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatctactgtatctgaagCtggtcctaaccaaacgtttg	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158988314C>T	ENST00000295809.7	+	5	1100	c.845C>T	c.(844-846)gCt>gTt	p.A282V	IFI16_ENST00000448393.2_Missense_Mutation_p.A282V|IFI16_ENST00000368132.3_Missense_Mutation_p.A282V|IFI16_ENST00000359709.3_Missense_Mutation_p.A226V|IFI16_ENST00000340979.6_Missense_Mutation_p.A282V|IFI16_ENST00000368131.4_Missense_Mutation_p.A282V|IFI16_ENST00000430894.2_Missense_Mutation_p.A230V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	282	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GTATCTGAAGCTGGTCCTAAC	0.338													False	0	False	1:158988314	0	T	158988314	C	T	158988314	3	4	88	1	0	0	0	0	1	0	0	0	7561	797	28	2	859	2	IFI16	1	158988314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3843	158988314	90262307	1258	8970											
CADM3	57863	broad.mit.edu	37	chr1	159163241	159163241	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcccatcatcactggTtataaatcttcattacggga	7	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159163241T>G	ENST00000368125.4	+	4	568	c.411T>G	c.(409-411)ggT>ggG	p.G137G	CADM3_ENST00000368124.4_Silent_p.G171G	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	137	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCATCACTGGTTATAAATCTT	0.542													False	0	False	1:159163241	0	G	159163241	T	G	159163241	2	3	88	1	0	0	0	0	0	0	0	1	2588	1712	60	4		4	CADM3	1	159163241	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174927	159163241	90087380	1259	8971											
CADM3	57863	broad.mit.edu	37	chr1	159163289	159163289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccaccctaaactgtcaGtcttctgggagcaagcctgc	9	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159163289G>A	ENST00000368125.4	+	4	616	c.459G>A	c.(457-459)caG>caA	p.Q153Q	CADM3_ENST00000368124.4_Silent_p.Q187Q	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	153	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TAAACTGTCAGTCTTCTGGGA	0.527													False	0	False	1:159163289	0	A	159163289	G	A	159163289	2	1	88	1	0	0	0	0	0	0	0	1	2588	1020	36	2		2	CADM3	1	159163289	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	159163289	90087332	1260	8972											
CADM3	57863	broad.mit.edu	37	chr1	159170620	159170620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgacacatgaggcaaaaGgctccgacgatgctccagac	10	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159170620G>T	ENST00000368125.4	+	9	1262	c.1105G>T	c.(1105-1107)Ggc>Tgc	p.G369C	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Missense_Mutation_p.G403C	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	369					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TGAGGCAAAAGGCTCCGACGA	0.562													False	0	True	1:159170620	0	T	159170620	G	T	159170620	3	4	88	1	0	0	0	0	1	0	0	0	2588	1000	35	3	1245	3	CADM3	1	159170620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7331	159170620	90080001	1261	8973											
FCER1A	2205	broad.mit.edu	37	chr1	159273844	159273844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaaatggttccacaatgGcagcctttcagaagagacaa	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159273844G>A	ENST00000368115.1	+	4	302	c.203G>A	c.(202-204)gGc>gAc	p.G68D	FCER1A_ENST00000368114.1_Missense_Mutation_p.G35D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	68	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TTCCACAATGGCAGCCTTTCA	0.368													False	0	False	1:159273844	0	A	159273844	G	A	159273844	3	1	88	1	0	0	0	0	1	0	0	0	5814	1203	42	2	213	2	FCER1A	1	159273844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103224	159273844	89976777	1262	8974											
FCER1A	2205	broad.mit.edu	37	chr1	159277659	159277659	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatttctcttgaagattaaGagaaccaggaaaggcttcag	9	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159277659G>A	ENST00000368115.1	+	6	810	c.711G>A	c.(709-711)aaG>aaA	p.K237K	FCER1A_ENST00000368114.1_Silent_p.K204K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	237						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGAAGATTAAGAGAACCAGGA	0.368													False	0	False	1:159277659	0	A	159277659	G	A	159277659	2	1	88	1	0	0	0	0	0	0	0	1	5814	933	33	2		2	FCER1A	1	159277659	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3815	159277659	89972962	1263	8975											
OR10J3	441911	broad.mit.edu	37	chr1	159283537	159283537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagagttttttgccccacGgctctgtgcagagcatcttt	10	11	2	2	rs144550384	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159283537G>A	ENST00000332217.5	-	1	912	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTGCCCCACGGCTCTGTGCA	0.428													False	0	False	1:159283537	0	A	159283537	G	A	159283537	3	1	88	1	0	0	0	0	1	0	0	0	10979	1116	39	1	78	1	OR10J3	1	159283537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5878	159283537	89967084	1264	8976											
OR10J3	441911	broad.mit.edu	37	chr1	159283813	159283813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggagataaagaccaggcCcataggtagaacaaggacac	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159283813C>T	ENST00000332217.5	-	1	636	c.637G>A	c.(637-639)Ggc>Agc	p.G213S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGACCAGGCCCATAGGTAGA	0.502													False	0	True	1:159283813	0	T	159283813	C	T	159283813	3	4	88	1	0	0	0	0	1	0	0	0	10979	623	22	2	354	2	OR10J3	1	159283813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	276	159283813	89966808	1265	8977											
OR10J1	26476	broad.mit.edu	37	chr1	159410122	159410122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacttcttctgtgacatcCgccctgtgatgaagctctcc	7	16	3	3	rs143481177		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159410122C>T	ENST00000423932.3	+	1	611	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	192					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CTGTGACATCCGCCCTGTGAT	0.478													False	0	False	1:159410122	0	T	159410122	C	T	159410122	3	4	88	1	0	0	0	0	1	0	0	0	10978	652	23	1	576	1	OR10J1	1	159410122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126309	159410122	89840499	1266	8978											
OR10J5	127385	broad.mit.edu	37	chr1	159505736	159505736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagggttatctgatgctttCcaaagctagaaaatcccaag	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159505736C>T	ENST00000334857.2	-	1	106	c.62G>A	c.(61-63)gGa>gAa	p.G21E		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CTGATGCTTTCCAAAGCTAGA	0.368													False	0	True	1:159505736	0	T	159505736	C	T	159505736	3	4	88	1	0	0	0	0	1	0	0	0	10980	855	30	2	869	2	OR10J5	1	159505736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95614	159505736	89744885	1267	8979											
APCS	325	broad.mit.edu	37	chr1	159558114	159558114	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatagtctatacattggaagAcacaaagttacatccaaagt	6	7	1	1	rs11545900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159558114A>G	ENST00000255040.2	+	2	385	c.288A>G	c.(286-288)agA>agG	p.R96R		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	96	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACATTGGAAGACACAAAGTTA	0.433													False	0	False	1:159558114	0	G	159558114	A	G	159558114	2	3	88	1	0	0	0	0	0	0	0	1	769	272	10	4		4	APCS	1	159558114	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52378	159558114	89692507	1268	8980											
TAGLN2	8407	broad.mit.edu	37	chr1	159890321	159890321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatgggtggcggtggctgCggggagctagggagaggaca	21	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159890321C>T	ENST00000368096.1	-	2	288	c.42G>A	c.(40-42)ccG>ccA	p.P14P	TAGLN2_ENST00000368097.4_5'UTR|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_5'UTR	NM_001277224.1	NP_001264153.1	P37802	TAGL2_HUMAN	transgelin 2	0					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCGGTGGCTGCGGGGAGCTAG	0.562													False	0	True	1:159890321	0	T	159890321	C	T	159890321	2	4	88	1	0	0	0	0	0	0	0	1	15621	783	27	1		1	TAGLN2	1	159890321	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332207	159890321	89360300	1269	8981											
IGSF9	57549	broad.mit.edu	37	chr1	159897170	159897170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcggggtgggggactgGctgtcgataggctggtagcc	19	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159897170G>A	ENST00000368094.1	-	21	3702	c.3505C>T	c.(3505-3507)Cca>Tca	p.P1169S	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.P1153S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1169						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGGGACTGGCTGTCGATAG	0.622													False	0	False	1:159897170	0	A	159897170	G	A	159897170	3	1	88	1	0	0	0	0	1	0	0	0	7655	1203	42	2	38	2	IGSF9	1	159897170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6849	159897170	89353451	1270	8982											
IGSF9	57549	broad.mit.edu	37	chr1	159897224	159897224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctcggcggcggcggaaggCcaggaattcctcccgaaggg	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159897224C>A	ENST00000368094.1	-	21	3648	c.3451G>T	c.(3451-3453)Gcc>Tcc	p.A1151S	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.A1135S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1151						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CGGCGGAAGGCCAGGAATTCC	0.627													False	0	False	1:159897224	0	A	159897224	C	A	159897224	3	1	88	1	0	0	0	0	1	0	0	0	7655	739	26	3	92	3	IGSF9	1	159897224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54	159897224	89353397	1271	8983											
IGSF9	57549	broad.mit.edu	37	chr1	159899737	159899737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgaagctgcccgcgaagGccacgaggcggaactcgtag	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159899737G>A	ENST00000368094.1	-	16	2290	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.A682V	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	698	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCCGCGAAGGCCACGAGGCG	0.677													False	0	False	1:159899737	0	A	159899737	G	A	159899737	3	1	88	1	0	0	0	0	1	0	0	0	7655	1203	42	2	1470	2	IGSF9	1	159899737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2513	159899737	89350884	1272	8984											
KCNJ10	3766	broad.mit.edu	37	chr1	160011435	160011435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcaggtaggaagtgcgCacctgacaggtggcactggt	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160011435C>T	ENST00000368089.3	-	2	1114	c.888G>A	c.(886-888)gtG>gtA	p.V296V	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	296						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGAAGTGCGCACCTGACAGG	0.537													False	0	False	1:160011435	0	T	160011435	C	T	160011435	2	4	88	1	0	0	0	0	0	0	0	1	8094	697	25	2		2	KCNJ10	1	160011435	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111698	160011435	89239186	1273	8985											
IGSF8	93185	broad.mit.edu	37	chr1	160065030	160065030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacctcccgggcccagcatCccattcctgtagggaaaggc	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160065030C>T	ENST00000368086.1	-	2	287	c.71G>A	c.(70-72)gGa>gAa	p.G24E	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.G24E			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	24					cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCCCAGCATCCCATTCCTGT	0.597													False	0	True	1:160065030	0	T	160065030	C	T	160065030	3	4	88	1	0	0	0	0	1	0	0	0	7654	855	30	2	1790	2	IGSF8	1	160065030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53595	160065030	89185591	1274	8986											
ATP1A2	477	broad.mit.edu	37	chr1	160094128	160094128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagaagatgcagatcaacGcagaggaagtggtggtggga	18	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160094128G>A	ENST00000361216.3	+	6	627	c.538G>A	c.(538-540)Gca>Aca	p.A180T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A180T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	180					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCAGATCAACGCAGAGGAAGT	0.587													False	0	False	1:160094128	0	A	160094128	G	A	160094128	3	1	88	1	0	0	0	0	1	0	0	0	1133	1087	38	1	560	1	ATP1A2	1	160094128	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29098	160094128	89156493	1275	8987											
ATP1A2	477	broad.mit.edu	37	chr1	160099109	160099109	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgctcaagtgcattgagctCtcctgtggctcagtgaggaa	12	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160099109C>A	ENST00000361216.3	+	11	1469	c.1380C>A	c.(1378-1380)ctC>ctA	p.L460L	ATP1A2_ENST00000392233.3_Silent_p.L460L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	460					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCATTGAGCTCTCCTGTGGCT	0.532													False	0	False	1:160099109	0	A	160099109	C	A	160099109	2	1	88	1	0	0	0	0	0	0	0	1	1133	900	32	3		3	ATP1A2	1	160099109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4981	160099109	89151512	1276	8988											
ATP1A2	477	broad.mit.edu	37	chr1	160109761	160109761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgaaagctcatcctgcgGcggtatcctggtggtaagcc	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160109761G>A	ENST00000361216.3	+	22	3110	c.3021G>A	c.(3019-3021)cgG>cgA	p.R1007R	ATP1A2_ENST00000392233.3_Silent_p.R996R|ATP1A2_ENST00000459972.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1007					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCATCCTGCGGCGGTATCCTG	0.587													False	0	False	1:160109761	0	A	160109761	G	A	160109761	2	1	88	1	0	0	0	0	0	0	0	1	1133	1190	42	2		2	ATP1A2	1	160109761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10652	160109761	89140860	1277	8989											
ATP1A4	480	broad.mit.edu	37	chr1	160128806	160128806	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatagcaagctctggtaatTcgaggaggagagaagatgca	13	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160128806T>C	ENST00000368081.4	+	5	1011	c.540T>C	c.(538-540)atT>atC	p.I180I		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	180					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTGGTAATTCGAGGAGGAG	0.473													False	0	False	1:160128806	0	C	160128806	T	C	160128806	2	2	88	1	0	0	0	0	0	0	0	1	1135	1771	62	4		4	ATP1A4	1	160128806	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19045	160128806	89121815	1278	8990											
ATP1A4	480	broad.mit.edu	37	chr1	160141048	160141048	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgctctccctagatgtccaTccaccttcgggaggacagct	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160141048T>C	ENST00000368081.4	+	11	1970	c.1499T>C	c.(1498-1500)aTc>aCc	p.I500T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	500					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAGATGTCCATCCACCTTCGG	0.507													False	0	True	1:160141048	0	C	160141048	T	C	160141048	3	2	88	1	0	0	0	0	1	0	0	0	1135	1435	50	4	1541	4	ATP1A4	1	160141048	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12242	160141048	89109573	1279	8991											
ATP1A4	480	broad.mit.edu	37	chr1	160156079	160156079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacaggataacctggtggCtctgtgccattccctacagt	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160156079C>T	ENST00000368081.4	+	21	3454	c.2983C>T	c.(2983-2985)Ctc>Ttc	p.L995F	ATP1A4_ENST00000470705.1_Missense_Mutation_p.L131F	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	995				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AACCTGGTGGCTCTGTGCCAT	0.547													False	0	False	1:160156079	0	T	160156079	C	T	160156079	3	4	88	1	0	0	0	0	1	0	0	0	1135	797	28	2	3065	2	ATP1A4	1	160156079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15031	160156079	89094542	1280	8992											
CASQ1	844	broad.mit.edu	37	chr1	160160767	160160767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctctaccatgaaccccccGaggatgacaaggcctcacaa	7	16	2	2	rs79469730	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160160767G>A	ENST00000368079.3	+	1	483	c.208G>A	c.(208-210)Gag>Aag	p.E70K	CASQ1_ENST00000368078.3_Missense_Mutation_p.E76K	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	76						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAACCCCCCGAGGATGACAA	0.522													False	0	True	1:160160767	0	A	160160767	G	A	160160767	3	1	88	1	0	0	0	0	1	0	0	0	2700	1059	37	1	228	1	CASQ1	1	160160767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4688	160160767	89089854	1281	8993											
DCAF8	50717	broad.mit.edu	37	chr1	160187443	160187443	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtccgatgtgtctgaggagCtgggagactcatcagagtcc	14	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160187443C>A	ENST00000368073.3	-	14	2167	c.1733G>T	c.(1732-1734)aGc>aTc	p.S578I	DCAF8_ENST00000608310.1_Missense_Mutation_p.S732I|DCAF8_ENST00000556710.1_Missense_Mutation_p.S732I|DCAF8_ENST00000368074.1_Missense_Mutation_p.S578I|DCAF8_ENST00000326837.2_Missense_Mutation_p.S578I			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	578						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GTCTGAGGAGCTGGGAGACTC	0.612													False	0	False	1:160187443	0	A	160187443	C	A	160187443	3	1	88	1	0	0	0	0	1	0	0	0	4301	797	28	3	64	3	DCAF8	1	160187443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26676	160187443	89063178	1282	8994											
PEX19	5824	broad.mit.edu	37	chr1	160253413	160253413	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggggagggtttggctttatcGaaatcatcaagagcaccttc	12	8	2	1	rs141911166		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160253413G>A	ENST00000368072.5	-	2	108	c.87C>T	c.(85-87)ttC>ttT	p.F29F	DCAF8_ENST00000608310.1_Intron|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000556710.1_Intron	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCTTTATCGAAATCATCAA	0.532													False	0	True	1:160253413	0	A	160253413	G	A	160253413	2	1	88	1	0	0	0	0	0	0	0	1	11813	1049	37	1		1	PEX19	1	160253413	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65970	160253413	88997208	1283	8995											
COPA	1314	broad.mit.edu	37	chr1	160261125	160261125	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgaaggagttccatctacCtgttgggccacctcaggctt	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160261125C>A	ENST00000241704.7	-	31	3649	c.3420G>T	c.(3418-3420)caG>caT	p.Q1140H	COPA_ENST00000368069.3_Splice_Site_p.Q1149H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1140					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCCATCTACCTGTTGGGCCA	0.517											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:160261125	0	A	160261125	C	A	160261125	5	1	88	1	0	0	0	0	0	0	1	0	3750	695	24	3	266	3	COPA	1	160261125	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7712	160261125	88989496	1284	8996											
COPA	1314	broad.mit.edu	37	chr1	160277034	160277034	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatcgtttcccttcaggCgctgagaagaacaaaaccaa	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160277034C>T	ENST00000241704.7	-	14	1450	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	COPA_ENST00000368069.3_Splice_Site_p.A407A	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	407					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCTTCAGGCGCTGAGAAGA	0.537													False	0	False	1:160277034	0	T	160277034	C	T	160277034	5	4	88	1	0	0	0	0	0	0	1	0	3750	782	27	1	2560	1	COPA	1	160277034	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15909	160277034	88973587	1285	8997											
COPA	1314	broad.mit.edu	37	chr1	160312937	160312937	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctacctttgacccgcgcgctCttggtctcgaatttggttaa	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160312937C>A	ENST00000241704.7	-	1	253	c.24G>T	c.(22-24)aaG>aaT	p.K8N	COPA_ENST00000368069.3_Missense_Mutation_p.K8N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	8					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCGCGCGCTCTTGGTCTCGA	0.567													False	0	False	1:160312937	0	A	160312937	C	A	160312937	3	1	88	1	0	0	0	0	1	0	0	0	3750	912	32	3	3809	3	COPA	1	160312937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35903	160312937	88937684	1286	8998											
SLAMF6	114836	broad.mit.edu	37	chr1	160466068	160466068	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatgtttcattgaaaagCcaagtgatgaagttgacctt	10	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160466068C>T	ENST00000368059.3	-	2	234	c.165G>A	c.(163-165)tgG>tgA	p.W55*	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Nonsense_Mutation_p.W55*	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	55						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CATTGAAAAGCCAAGTGATGA	0.463													False	0	False	1:160466068	0	T	160466068	C	T	160466068	4	4	88	1	0	0	0	0	0	1	0	0	14449	740	26	2	861	2	SLAMF6	1	160466068	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153131	160466068	88784553	1287	8999											
CD84	8832	broad.mit.edu	37	chr1	160535424	160535424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatgttttagaagtccaaGcaatgattttaacttgccgt	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160535424G>T	ENST00000368054.3	-	2	193	c.158C>A	c.(157-159)gCt>gAt	p.A53D	CD84_ENST00000368051.3_Missense_Mutation_p.A53D|CD84_ENST00000368048.3_Missense_Mutation_p.A53D|CD84_ENST00000534968.1_Intron|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000311224.4_Missense_Mutation_p.A53D|RP11-528G1.2_ENST00000446952.1_RNA	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	53					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGAAGTCCAAGCAATGATTTT	0.413													False	0	False	1:160535424	0	T	160535424	G	T	160535424	3	4	88	1	0	0	0	0	1	0	0	0	3065	971	34	3	907	3	CD84	1	160535424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69356	160535424	88715197	1288	9000											
CD48	962	broad.mit.edu	37	chr1	160651020	160651020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtggactgaggcagacCgtgccattcttgctgctcac	13	12	2	2	rs148599053	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160651020C>T	ENST00000368046.3	-	3	711	c.624G>A	c.(622-624)acG>acA	p.T208T	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	208	Ig-like C2-type 2.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGAGGCAGACCGTGCCATTCT	0.517													False	0	False	1:160651020	0	T	160651020	C	T	160651020	2	4	88	1	0	0	0	0	0	0	0	1	3043	639	23	1		1	CD48	1	160651020	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115596	160651020	88599601	1289	9001											
CD48	962	broad.mit.edu	37	chr1	160654834	160654834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttaaatttggattcaaaGtacttagattttctggaatc	6	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160654834G>A	ENST00000368045.3	-	2	267	c.228C>T	c.(226-228)taC>taT	p.Y76Y	CD48_ENST00000368046.3_Silent_p.Y76Y			P09326	CD48_HUMAN	CD48 molecule	76	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGATTCAAAGTACTTAGATT	0.423													False	0	True	1:160654834	0	A	160654834	G	A	160654834	2	1	88	1	0	0	0	0	0	0	0	1	3043	1024	36	2		2	CD48	1	160654834	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3814	160654834	88595787	1290	9002											
ITLN1	55600	broad.mit.edu	37	chr1	160851893	160851893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcccacgcatgtcattctCgtgcacgctggccaccaggg	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160851893C>T	ENST00000326245.3	-	4	374	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	87	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTCATTCTCGTGCACGCTG	0.597													False	0	False	1:160851893	0	T	160851893	C	T	160851893	3	4	88	1	0	0	0	0	1	0	0	0	7960	893	31	1	702	1	ITLN1	1	160851893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197059	160851893	88398728	1291	9003											
ITLN2	142683	broad.mit.edu	37	chr1	160914997	160914997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgctcttaacgtgagttCcatatccatcccagtcaaag	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160914997C>T	ENST00000368029.3	-	8	968	c.911G>A	c.(910-912)gGa>gAa	p.G304E	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	304					signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AACGTGAGTTCCATATCCATC	0.557													False	0	False	1:160914997	0	T	160914997	C	T	160914997	3	4	88	1	0	0	0	0	1	0	0	0	7961	855	30	2	70	2	ITLN2	1	160914997	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63104	160914997	88335624	1292	9004											
F11R	50848	broad.mit.edu	37	chr1	160970463	160970463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctccccatagctgttgcCgccttcctcagagaccatac	7	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160970463C>T	ENST00000368026.6	-	4	620	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	F11R_ENST00000537746.1_Intron|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	116	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TAGCTGTTGCCGCCTTCCTCA	0.542													False	0	False	1:160970463	0	T	160970463	C	T	160970463	3	4	88	1	0	0	0	0	1	0	0	0	5371	652	23	1	581	1	F11R	1	160970463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55466	160970463	88280158	1293	9005											
ARHGAP30	257106	broad.mit.edu	37	chr1	161017863	161017863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccaagaggatcgagaagctCgggacccccaagccctttct	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161017863C>T	ENST00000368013.3	-	12	3268	c.2948G>A	c.(2947-2949)cGa>cAa	p.R983Q	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R772Q|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R806Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	983					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCGAGAAGCTCGGGACCCCCA	0.592													False	0	True	1:161017863	0	T	161017863	C	T	161017863	3	4	88	1	0	0	0	0	1	0	0	0	881	884	31	1	361	1	ARHGAP30	1	161017863	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47400	161017863	88232758	1294	9006											
ARHGAP30	257106	broad.mit.edu	37	chr1	161018943	161018943	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacccttccagattgggggtTtaggtcccagaaggggactt	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161018943T>G	ENST00000368013.3	-	12	2188	c.1868A>C	c.(1867-1869)aAa>aCa	p.K623T	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.K623T|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.K446T	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	623					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GATTGGGGGTTTAGGTCCCAG	0.587													False	0	True	1:161018943	0	G	161018943	T	G	161018943	3	3	88	1	0	0	0	0	1	0	0	0	881	1841	64	4	1441	4	ARHGAP30	1	161018943	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1080	161018943	88231678	1295	9007											
DEDD	9191	broad.mit.edu	37	chr1	161094177	161094177	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtcaaacatgcggtgcaGgctgtacagcccatgttcct	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161094177G>T	ENST00000392188.1	-	3	310	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	DEDD_ENST00000490843.2_Missense_Mutation_p.L26M|DEDD_ENST00000368006.3_Missense_Mutation_p.L26M|DEDD_ENST00000458050.2_Missense_Mutation_p.L26M|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000545495.1_Missense_Mutation_p.L26M|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000368005.1_Missense_Mutation_p.L26M			O75618	DEDD_HUMAN	death effector domain containing	26	DED.				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATGCGGTGCAGGCTGTACAGC	0.572													False	0	False	1:161094177	0	T	161094177	G	T	161094177	3	4	88	1	0	0	0	0	1	0	0	0	4409	991	35	3	896	3	DEDD	1	161094177	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75234	161094177	88156444	1296	9008											
UFC1	51506	broad.mit.edu	37	chr1	161123792	161123792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccctggtccaagatggCggatgaagccacgcgacgtg	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161123792C>T	ENST00000368003.5	+	1	251	c.5C>T	c.(4-6)gCg>gTg	p.A2V	UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	2					protein ufmylation		protein binding|UFM1 conjugating enzyme activity			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCAAGATGGCGGATGAAGCC	0.567													False	0	False	1:161123792	0	T	161123792	C	T	161123792	3	4	88	1	0	0	0	0	1	0	0	0	17018	768	27	1	7	1	UFC1	1	161123792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29615	161123792	88126829	1297	9009											
USP21	27005	broad.mit.edu	37	chr1	161130902	161130902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagacgtagcacttctctcCgccgcctagggggctttcct	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161130902C>T	ENST00000368002.3	+	3	849	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	USP21_ENST00000289865.8_Missense_Mutation_p.R158C|USP21_ENST00000368001.1_Missense_Mutation_p.R158C	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	158					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACTTCTCTCCGCCGCCTAGG	0.652													False	0	True	1:161130902	0	T	161130902	C	T	161130902	3	4	88	1	0	0	0	0	1	0	0	0	17137	652	23	1	474	1	USP21	1	161130902	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7110	161130902	88119719	1298	9010											
USP21	27005	broad.mit.edu	37	chr1	161133729	161133729	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgtgggtatcgctccacGaccttcgaggttttttgtga	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161133729G>A	ENST00000368002.3	+	9	1553	c.1176G>A	c.(1174-1176)acG>acA	p.T392T	USP21_ENST00000493054.1_Intron|USP21_ENST00000289865.8_Silent_p.T392T|USP21_ENST00000368001.1_Silent_p.T392T	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	392					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATCGCTCCACGACCTTCGAGG	0.552													False	0	False	1:161133729	0	A	161133729	G	A	161133729	2	1	88	1	0	0	0	0	0	0	0	1	17137	1045	37	1		1	USP21	1	161133729	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2827	161133729	88116892	1299	9011											
USP21	27005	broad.mit.edu	37	chr1	161135183	161135183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaccaggtggcatccagCgagggctacgtgctgttcta	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161135183C>T	ENST00000368002.3	+	14	2021	c.1644C>T	c.(1642-1644)agC>agT	p.S548S	USP21_ENST00000493054.1_3'UTR|USP21_ENST00000289865.8_Silent_p.S548S|USP21_ENST00000368001.1_Silent_p.S534S	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	548					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGCATCCAGCGAGGGCTACG	0.532													False	0	False	1:161135183	0	T	161135183	C	T	161135183	2	4	88	1	0	0	0	0	0	0	0	1	17137	767	27	1		1	USP21	1	161135183	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1454	161135183	88115438	1300	9012											
PPOX	5498	broad.mit.edu	37	chr1	161140296	161140296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggacgggagcccccctgGcctcagagtgactgtgagga	16	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161140296G>A	ENST00000367999.4	+	10	1351	c.1085G>A	c.(1084-1086)gGc>gAc	p.G362D	PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.G362D|PPOX_ENST00000432542.2_Missense_Mutation_p.G107D	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	362					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCCCCCTGGCCTCAGAGTG	0.542													False	0	False	1:161140296	0	A	161140296	G	A	161140296	3	1	88	1	0	0	0	0	1	0	0	0	12422	1203	42	2	1119	2	PPOX	1	161140296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5113	161140296	88110325	1301	9013											
B4GALT3	8703	broad.mit.edu	37	chr1	161144912	161144912	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctgttcgggagcggggCtcacaacctgcagggcggta	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161144912C>T	ENST00000319769.5	-	4	582	c.360G>A	c.(358-360)gaG>gaA	p.E120E	PPOX_ENST00000495483.1_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|B4GALT3_ENST00000367998.1_Silent_p.E120E|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	120					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GGGAGCGGGGCTCACAACCTG	0.647													False	0	True	1:161144912	0	T	161144912	C	T	161144912	2	4	88	1	0	0	0	0	0	0	0	1	1276	796	28	2		2	B4GALT3	1	161144912	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4616	161144912	88105709	1302	9014											
ADAMTS4	9507	broad.mit.edu	37	chr1	161161259	161161259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatctggcagcttcaggGccaagtagatgctccggtgg	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161161259G>A	ENST00000367996.5	-	9	2611	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4		Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGCTTCAGGGCCAAGTAGAT	0.597													False	0	True	1:161161259	0	A	161161259	G	A	161161259	3	1	88	1	0	0	0	0	1	0	0	0	268	1203	42	2	334	2	ADAMTS4	1	161161259	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16347	161161259	88089362	1303	9015											
ADAMTS4	9507	broad.mit.edu	37	chr1	161168079	161168079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcagctcaggcgcctgGcccaggtactgcactgtcag	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161168079G>A	ENST00000367996.5	-	1	767	c.339C>T	c.(337-339)ggC>ggT	p.G113G	ADAMTS4_ENST00000367995.3_Silent_p.G113G	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4						proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGCGCCTGGCCCAGGTACT	0.642													False	0	True	1:161168079	0	A	161168079	G	A	161168079	2	1	88	1	0	0	0	0	0	0	0	1	268	1190	42	2		2	ADAMTS4	1	161168079	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6820	161168079	88082542	1304	9016											
NR1I3	0	broad.mit.edu	37	chr1	161201197	161201197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacagaaagtggtattgaGtacgatgtgacagatttcca	12	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161201197G>A	ENST00000367983.4	-	6	910	c.616C>T	c.(616-618)Ctc>Ttc	p.L206F	NR1I3_ENST00000367982.4_Missense_Mutation_p.L206F|NR1I3_ENST00000505005.1_Missense_Mutation_p.L206F|NR1I3_ENST00000442691.2_Missense_Mutation_p.L206F|NR1I3_ENST00000367985.3_Missense_Mutation_p.L206F|NR1I3_ENST00000515621.1_Missense_Mutation_p.L131F|NR1I3_ENST00000504010.1_Missense_Mutation_p.L177F|NR1I3_ENST00000437437.2_Missense_Mutation_p.L177F|NR1I3_ENST00000508740.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367980.2_Missense_Mutation_p.L206F|NR1I3_ENST00000515452.1_Missense_Mutation_p.L206F|NR1I3_ENST00000502985.1_Silent_p.Y102Y|NR1I3_ENST00000412844.2_Missense_Mutation_p.L177F|NR1I3_ENST00000428574.2_Missense_Mutation_p.L206F|NR1I3_ENST00000511676.1_Missense_Mutation_p.L177F|NR1I3_ENST00000511944.1_Silent_p.Y102Y|NR1I3_ENST00000512372.1_Missense_Mutation_p.L177F|NR1I3_ENST00000511748.1_Silent_p.Y73Y|NR1I3_ENST00000506209.1_Missense_Mutation_p.L177F|NR1I3_ENST00000367979.2_Missense_Mutation_p.L206F|NR1I3_ENST00000367984.4_Missense_Mutation_p.L206F|NR1I3_ENST00000367981.3_Missense_Mutation_p.L177F|NR1I3_ENST00000508387.1_Silent_p.Y73Y			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	206					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTGGTATTGAGTACGATGTGA	0.483													False	0	False	1:161201197	0	A	161201197	G	A	161201197	3	1	88	1	0	0	0	0	1	0	0	0	10689	1029	36	2	568	2	NR1I3	1	161201197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33118	161201197	88049424	1305	9017											
MPZ	4359	broad.mit.edu	37	chr1	161277072	161277072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcatctctgcccccttcGggctggtagcgccaggtgaa	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161277072G>A	ENST00000533357.1	-	2	276	c.210C>T	c.(208-210)ccC>ccT	p.P70P	MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000360451.6_Silent_p.P80P|MPZ_ENST00000336559.4_Silent_p.P70P	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	70	Ig-like V-type.				synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCCCCCTTCGGGCTGGTAGC	0.552													False	0	True	1:161277072	0	A	161277072	G	A	161277072	2	1	88	1	0	0	0	0	0	0	0	1	9815	1103	39	1		1	MPZ	1	161277072	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75875	161277072	87973549	1306	9018											
FCGR2A	2212	broad.mit.edu	37	chr1	161483694	161483694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccccacagccaattccaCtgatcctgtgaaggctgccc	7	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161483694C>T	ENST00000271450.6	+	6	790	c.752C>T	c.(751-753)aCt>aTt	p.T251I	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Missense_Mutation_p.T250I	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	251						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCCAATTCCACTGATCCTGTG	0.502													False	0	False	1:161483694	0	T	161483694	C	T	161483694	3	4	88	1	0	0	0	0	1	0	0	0	5821	565	20	2	774	2	FCGR2A	1	161483694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206622	161483694	87766927	1307	9019											
FCGR2A	2212	broad.mit.edu	37	chr1	161487824	161487824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaagaaaccaacaatgaCtatgaaacagctgacggcgg	10	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161487824C>T	ENST00000271450.6	+	7	878	c.840C>T	c.(838-840)gaC>gaT	p.D280D	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Silent_p.D279D|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	280						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAACAATGACTATGAAACAG	0.448													False	0	False	1:161487824	0	T	161487824	C	T	161487824	2	4	88	1	0	0	0	0	0	0	0	1	5821	564	20	2		2	FCGR2A	1	161487824	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4130	161487824	87762797	1308	9020											
FCGR2A	2212	broad.mit.edu	37	chr1	161487866	161487866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatgactctgaaccccagGgcacctactgacgatgataa	8	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161487866G>A	ENST00000271450.6	+	7	920	c.882G>A	c.(880-882)agG>agA	p.R294R	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Silent_p.R293R|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	294						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGAACCCCAGGGCACCTACTG	0.448													False	0	True	1:161487866	0	A	161487866	G	A	161487866	2	1	88	1	0	0	0	0	0	0	0	1	5821	1223	43	2		2	FCGR2A	1	161487866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	161487866	87762755	1309	9021											
HSPA6	3310	broad.mit.edu	37	chr1	161494843	161494843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcaagatgaaggagaCggccgaggcgtacctgggcc	17	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161494843C>T	ENST00000309758.4	+	1	808	c.395C>T	c.(394-396)aCg>aTg	p.T132M	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	132					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATGAAGGAGACGGCCGAGGCG	0.652													False	0	False	1:161494843	0	T	161494843	C	T	161494843	3	4	88	1	0	0	0	0	1	0	0	0	7464	536	19	1	397	1	HSPA6	1	161494843	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6977	161494843	87755778	1310	9022											
HSPA6	3310	broad.mit.edu	37	chr1	161495182	161495182	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtgaaccacttcatggAagaattccggcggaagcatg	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161495182A>C	ENST00000309758.4	+	1	1147	c.734A>C	c.(733-735)gAa>gCa	p.E245A	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	245					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACTTCATGGAAGAATTCCGG	0.612													False	0	False	1:161495182	0	C	161495182	A	C	161495182	3	2	88	1	0	0	0	0	1	0	0	0	7464	246	9	4	736	4	HSPA6	1	161495182	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	339	161495182	87755439	1311	9023											
HSPA6	3310	broad.mit.edu	37	chr1	161495386	161495386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgctcagacctcttccGcagcaccctggagccggtgg	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161495386G>A	ENST00000309758.4	+	1	1351	c.938G>A	c.(937-939)cGc>cAc	p.R313H	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	313					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GACCTCTTCCGCAGCACCCTG	0.632													False	0	False	1:161495386	0	A	161495386	G	A	161495386	3	1	88	1	0	0	0	0	1	0	0	0	7464	1087	38	1	940	1	HSPA6	1	161495386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204	161495386	87755235	1312	9024											
FCGR3B	2215	broad.mit.edu	37	chr1	161596176	161596176	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacacccaccgaggggcCtggagcaacagccagcctga	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161596176C>A	ENST00000294800.3	-	4	609	c.336G>T	c.(334-336)caG>caT	p.Q112H	FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.Q112H|FCGR3B_ENST00000531221.1_Missense_Mutation_p.Q148H|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000403078.3_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	112					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCGAGGGGCCTGGAGCAACA	0.562													False	0	False	1:161596176	0	A	161596176	C	A	161596176	3	1	88	1	0	0	0	0	1	0	0	0	5825	680	24	3	373	3	FCGR3B	1	161596176	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100790	161596176	87654445	1313	9025											
FCRLB	127943	broad.mit.edu	37	chr1	161695827	161695827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggcaccatgcgcatccCggtggagagcgcgcccatgt	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161695827C>T	ENST00000367948.2	+	6	739	c.524C>T	c.(523-525)cCg>cTg	p.P175L	FCRLB_ENST00000367944.3_Missense_Mutation_p.P168L|FCRLB_ENST00000367946.3_Missense_Mutation_p.P175L|FCRLB_ENST00000336830.5_Missense_Mutation_p.P175L|FCRLB_ENST00000392158.1_Missense_Mutation_p.P175L|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367945.1_Missense_Mutation_p.P168L			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	175	Ig-like C2-type 2.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ATGCGCATCCCGGTGGAGAGC	0.637											OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:161695827	0	T	161695827	C	T	161695827	3	4	88	1	0	0	0	0	1	0	0	0	5841	652	23	1	538	1	FCRLB	1	161695827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99651	161695827	87554794	1314	9026											
DUSP12	11266	broad.mit.edu	37	chr1	161721475	161721475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtcatgcaggagtcagtcGaagtgtggccataataactg	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161721475G>A	ENST00000367943.4	+	2	394	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	121	Tyrosine-protein phosphatase.				positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGAGTCAGTCGAAGTGTGGCC	0.388													False	0	True	1:161721475	0	A	161721475	G	A	161721475	3	1	88	1	0	0	0	0	1	0	0	0	4842	1058	37	1	368	1	DUSP12	1	161721475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25648	161721475	87529146	1315	9027											
ATF6	22926	broad.mit.edu	37	chr1	161821543	161821543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttcaaatgacaaagccCtgatggtgctaactgaagaa	9	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161821543C>T	ENST00000367942.3	+	11	1418	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	451					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TGACAAAGCCCTGATGGTGCT	0.368													False	0	True	1:161821543	0	T	161821543	C	T	161821543	2	4	88	1	0	0	0	0	0	0	0	1	1088	680	24	2		2	ATF6	1	161821543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100068	161821543	87429078	1316	9028											
OLFML2B	25903	broad.mit.edu	37	chr1	161970022	161970022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgcctctgcaggggcCgctgtgacttcaccacctca	11	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161970022C>T	ENST00000294794.3	-	5	1253	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	OLFML2B_ENST00000367940.2_Missense_Mutation_p.R278Q	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	277										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTGCAGGGGCCGCTGTGACTT	0.607													False	0	False	1:161970022	0	T	161970022	C	T	161970022	3	4	88	1	0	0	0	0	1	0	0	0	10926	652	23	1	1438	1	OLFML2B	1	161970022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148479	161970022	87280599	1317	9029											
NOS1AP	9722	broad.mit.edu	37	chr1	162324979	162324979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgttgttcctgcaggcCgccagctcactggagccgag	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162324979C>T	ENST00000361897.5	+	7	1000	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	NOS1AP_ENST00000530878.1_Missense_Mutation_p.R195C	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	200					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TCCTGCAGGCCGCCAGCTCAC	0.552													False	0	False	1:162324979	0	T	162324979	C	T	162324979	3	4	88	1	0	0	0	0	1	0	0	0	10610	652	23	1	624	1	NOS1AP	1	162324979	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	354957	162324979	86925642	1318	9030											
C1orf111	284680	broad.mit.edu	37	chr1	162344026	162344026	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccctcttgatgtggcTcttgaggaagtccagggtgg	15	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162344026T>G	ENST00000367935.5	-	3	677	c.598A>C	c.(598-600)Agc>Cgc	p.S200R	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111											central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TTGATGTGGCTCTTGAGGAAG	0.602													False	0	False	1:162344026	0	G	162344026	T	G	162344026	3	3	88	1	0	0	0	0	1	0	0	0	1999	1551	54	4	191	4	C1orf111	1	162344026	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19047	162344026	86906595	1319	9031											
UHMK1	127933	broad.mit.edu	37	chr1	162467986	162467986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaaccaccggggctgcgGcctctgccgccgagtatggt	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162467986G>A	ENST00000489294.1	+	1	354	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.A66T|UHMK1_ENST00000545294.1_Intron	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	66	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CGGGGCTGCGGCCTCTGCCGC	0.642													False	0	False	1:162467986	0	A	162467986	G	A	162467986	3	1	88	1	0	0	0	0	1	0	0	0	17050	1203	42	2	248	2	UHMK1	1	162467986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123960	162467986	86782635	1320	9032											
DDR2	4921	broad.mit.edu	37	chr1	162737131	162737131	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctctggaggcagttctgGcagaaaatgctggagaaggt	14	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162737131G>A	ENST00000367922.3	+	12	1713	c.1275G>A	c.(1273-1275)tgG>tgA	p.W425*	DDR2_ENST00000367921.3_Nonsense_Mutation_p.W425*	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2						cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GGCAGTTCTGGCAGAAAATGC	0.473													False	0	False	1:162737131	0	A	162737131	G	A	162737131	4	1	88	1	0	0	0	0	0	1	0	0	4362	1212	42	2	1309	2	DDR2	1	162737131	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269145	162737131	86513490	1321	9033											
C1orf110	339512	broad.mit.edu	37	chr1	162824821	162824821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcccatctggctttagagCaacatcttttgatctggtct	8	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162824821C>T	ENST00000367910.1	-	4	763	c.643G>A	c.(643-645)Gct>Act	p.A215T	C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	215										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GGCTTTAGAGCAACATCTTTT	0.463													False	0	False	1:162824821	0	T	162824821	C	T	162824821	3	4	88	1	0	0	0	0	1	0	0	0	1998	710	25	2	269	2	C1orf110	1	162824821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87690	162824821	86425800	1322	9034											
NUF2	83540	broad.mit.edu	37	chr1	163317709	163317710	+	In_Frame_Ins	INS	-	-	TAGGATTTAGAA													gcatgaagatgttaagcaatINSacaaacgcacagtaattgag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:163317709_163317710insTAGGATTTAGAA	ENST00000271452.3	+	12	1384_1385	c.1105_1106insTAGGATTTAGAA	c.(1105-1107)tac>tTAGGATTTAGAAac	p.369_369Y>LGFRN	NUF2_ENST00000367900.3_In_Frame_Ins_p.369_369Y>LGFRN|NUF2_ENST00000524800.1_In_Frame_Ins_p.322_322Y>LGFRN	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	369	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TGTTAAGCAATACAAACGCACA	0.317													False	0	False	1:163317709	0	TAGGATTTAGAA	163317710	-	TAGGATTTAGAA	163317709	7	5	88	1	0	1	1	0	0	0	0	0	10815	1406	49	0	1147	0	NUF2	1	163317709	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	492888	163317709	85932912	1323	9035											
PBX1	5087	broad.mit.edu	37	chr1	164761883	164761883	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcggcttctggaggggcaGgttcagacaactcagtggag	17	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164761883G>T	ENST00000420696.2	+	3	606	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	PBX1_ENST00000540236.1_Missense_Mutation_p.G140C|PBX1_ENST00000367897.1_Missense_Mutation_p.G140C|PBX1_ENST00000560641.1_Missense_Mutation_p.G35C|PBX1_ENST00000559240.1_Missense_Mutation_p.G140C|PBX1_ENST00000540246.1_Missense_Mutation_p.G35C|PBX1_ENST00000401534.1_Missense_Mutation_p.G140C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	140					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGGAGGGGCAGGTTCAGACAA	0.602			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"								False	0	False	1:164761883	0	T	164761883	G	T	164761883	3	4	88	1	0	0	0	0	1	0	0	0	11560	1000	35	3	428	3	PBX1	1	164761883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1444174	164761883	84488738	1324	9036											
PBX1	5087	broad.mit.edu	37	chr1	164781364	164781364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggaagccaagctaactcGccctcaactcccaactcggc	7	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164781364G>A	ENST00000420696.2	+	6	1163	c.975G>A	c.(973-975)tcG>tcA	p.S325S	PBX1_ENST00000540236.1_Silent_p.S325S|PBX1_ENST00000367897.1_Silent_p.S325S|PBX1_ENST00000560641.1_Silent_p.S220S|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Silent_p.S220S|PBX1_ENST00000401534.1_Silent_p.S325S	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	325					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AAGCTAACTCGCCCTCAACTC	0.443			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"								False	0	True	1:164781364	0	A	164781364	G	A	164781364	2	1	88	1	0	0	0	0	0	0	0	1	11560	1074	38	1		1	PBX1	1	164781364	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19481	164781364	84469257	1325	9037											
PBX1	5087	broad.mit.edu	37	chr1	164789358	164789358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggagatttgttcatgagCgtgcagtcactcaatgggga	13	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164789358C>T	ENST00000420696.2	+	7	1235	c.1047C>T	c.(1045-1047)agC>agT	p.S349S	PBX1_ENST00000540236.1_Silent_p.S349S|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000560641.1_Silent_p.S244S|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Silent_p.S244S|PBX1_ENST00000401534.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	349					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGTTCATGAGCGTGCAGTCAC	0.483			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"								False	0	False	1:164789358	0	T	164789358	C	T	164789358	2	4	88	1	0	0	0	0	0	0	0	1	11560	767	27	1		1	PBX1	1	164789358	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7994	164789358	84461263	1326	9038											
LMX1A	4009	broad.mit.edu	37	chr1	165173188	165173188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccactctggactgcagagGcccagcttctgaggttgcta	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165173188G>A	ENST00000342310.3	-	9	1460	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Missense_Mutation_p.P360S|LMX1A_ENST00000367893.4_Missense_Mutation_p.P360S	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	360						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GACTGCAGAGGCCCAGCTTCT	0.517													False	0	True	1:165173188	0	A	165173188	G	A	165173188	3	1	88	1	0	0	0	0	1	0	0	0	8914	1203	42	2	74	2	LMX1A	1	165173188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383830	165173188	84077433	1327	9039											
LMX1A	4009	broad.mit.edu	37	chr1	165182966	165182966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttctcggacgtttggggCgcttatggtccttgccttcc	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165182966C>T	ENST00000342310.3	-	5	963	c.581G>A	c.(580-582)cGc>cAc	p.R194H	LMX1A_ENST00000294816.2_Missense_Mutation_p.R194H|LMX1A_ENST00000367893.4_Missense_Mutation_p.R194H	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	194						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					ACGTTTGGGGCGCTTATGGTC	0.502													False	0	True	1:165182966	0	T	165182966	C	T	165182966	3	4	88	1	0	0	0	0	1	0	0	0	8914	768	27	1	587	1	LMX1A	1	165182966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9778	165182966	84067655	1328	9040											
LRRC52	440699	broad.mit.edu	37	chr1	165513649	165513649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcccaagaagtaatctGcacagggaagcagttaaccg	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165513649G>A	ENST00000294818.1	+	1	406	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	39	LRRNT.					integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GAAGTAATCTGCACAGGGAAG	0.502													False	0	False	1:165513649	0	A	165513649	G	A	165513649	3	1	88	1	0	0	0	0	1	0	0	0	9072	1319	46	2	118	2	LRRC52	1	165513649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330683	165513649	83736972	1329	9041											
ALDH9A1	223	broad.mit.edu	37	chr1	165634286	165634286	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatccaccaaagggcaactcCactgggctgacgttatagtt	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165634286C>A	ENST00000354775.4	-	10	1735	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	ALDH9A1_ENST00000538148.1_Silent_p.V383V	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	453					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	AGGGCAACTCCACTGGGCTGA	0.458													False	0	False	1:165634286	0	A	165634286	C	A	165634286	2	1	88	1	0	0	0	0	0	0	0	1	506	581	21	3		3	ALDH9A1	1	165634286	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120637	165634286	83616335	1330	9042											
TMCO1	54499	broad.mit.edu	37	chr1	165712439	165712439	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtacagagaatatacaggaAaatgaaggaacagtctgtgg	12	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165712439A>C	ENST00000367881.5	-	6	861	c.586T>G	c.(586-588)Ttc>Gtc	p.F196V	TMCO1_ENST00000464650.1_Missense_Mutation_p.F61V|TMCO1_ENST00000392129.6_Missense_Mutation_p.F145V|TMCO1_ENST00000580248.1_Missense_Mutation_p.F61V			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	145						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ATATACAGGAAAATGAAGGAA	0.398													False	0	True	1:165712439	0	C	165712439	A	C	165712439	3	2	88	1	0	0	0	0	1	0	0	0	16077	14	1	4	141	4	TMCO1	1	165712439	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	78153	165712439	83538182	1331	9043											
TMCO1	54499	broad.mit.edu	37	chr1	165737482	165737482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctcttgtacttgtctgtcCtgtaaaccaggacccaggtt	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165737482C>A	ENST00000367881.5	-	2	523	c.248G>T	c.(247-249)aGg>aTg	p.R83M	TMCO1_ENST00000464650.1_De_novo_Start_InFrame|TMCO1_ENST00000392129.6_Missense_Mutation_p.R32M|TMCO1_ENST00000580248.1_De_novo_Start_InFrame			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	32						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CTTGTCTGTCCTGTAAACCAG	0.373													False	0	True	1:165737482	0	A	165737482	C	A	165737482	3	1	88	1	0	0	0	0	1	0	0	0	16077	681	24	3	495	3	TMCO1	1	165737482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25043	165737482	83513139	1332	9044											
FAM78B	149297	broad.mit.edu	37	chr1	166039799	166039799	+	Silent	SNP	G	G	A													cttgtgagcagtggcacattGctgtcactcacaggcactgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039799G>A	ENST00000338353.3	-	3	1054	c.465C>T	c.(463-465)agC>agT	p.S155S	FAM78B_ENST00000354422.3_Silent_p.S155S			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	155										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GTGGCACATTGCTGTCACTCA	0.522													False	0	False	1:166039799	0	A	166039799	G	A	166039799	2	1	88	1	0	0	0	0	0	0	0	1	5667	1310	46	2		2	FAM78B	1	166039799	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302317	166039799	83210822	1333	9045	146	2									
FAM78B	149297	broad.mit.edu	37	chr1	166039800	166039800	+	Missense_Mutation	SNP	C	C	T													ttgtgagcagtggcacattgCtgtcactcacaggcactgcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039800C>T	ENST00000338353.3	-	3	1053	c.464G>A	c.(463-465)aGc>aAc	p.S155N	FAM78B_ENST00000354422.3_Missense_Mutation_p.S155N			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	155										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGGCACATTGCTGTCACTCAC	0.527													False	0	False	1:166039800	0	T	166039800	C	T	166039800	3	4	88	1	0	0	0	0	1	0	0	0	5667	797	28	2	325	2	FAM78B	1	166039800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	166039800	83210821	1334	9046	146	2									
FAM78B	149297	broad.mit.edu	37	chr1	166039940	166039940	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccaagggtagctcaccccAtctgagtcactgatggcttt	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039940A>G	ENST00000338353.3	-	3	913	c.324T>C	c.(322-324)gaT>gaC	p.D108D	FAM78B_ENST00000354422.3_Silent_p.D108D			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	108										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					AGCTCACCCCATCTGAGTCAC	0.522													False	0	True	1:166039940	0	G	166039940	A	G	166039940	2	3	88	1	0	0	0	0	0	0	0	1	5667	214	8	4		4	FAM78B	1	166039940	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	140	166039940	83210681	1335	9047											
POGK	57645	broad.mit.edu	37	chr1	166818370	166818370	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgacctctcggctgatgAcatagctgggaagtttcagt	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166818370A>G	ENST00000367875.1	+	5	914	c.554A>G	c.(553-555)gAc>gGc	p.D185G	POGK_ENST00000367876.4_Missense_Mutation_p.D185G|POGK_ENST00000537173.1_Missense_Mutation_p.D67G|POGK_ENST00000536514.1_Missense_Mutation_p.D100G			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	185					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TCGGCTGATGACATAGCTGGG	0.572													False	0	False	1:166818370	0	G	166818370	A	G	166818370	3	3	88	1	0	0	0	0	1	0	0	0	12254	275	10	4	568	4	POGK	1	166818370	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	778430	166818370	82432251	1336	9048											
POGK	57645	broad.mit.edu	37	chr1	166819057	166819057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggaggaagttaccaccgtAcatcattttgaggggaacat	12	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166819057A>G	ENST00000367875.1	+	5	1601	c.1241A>G	c.(1240-1242)tAc>tGc	p.Y414C	POGK_ENST00000367876.4_Missense_Mutation_p.Y414C|POGK_ENST00000537173.1_Missense_Mutation_p.Y296C|POGK_ENST00000536514.1_Missense_Mutation_p.Y329C			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	414	DDE.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TTACCACCGTACATCATTTTG	0.512													False	0	False	1:166819057	0	G	166819057	A	G	166819057	3	3	88	1	0	0	0	0	1	0	0	0	12254	391	14	4	1255	4	POGK	1	166819057	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	687	166819057	82431564	1337	9049											
TADA1	117143	broad.mit.edu	37	chr1	166839020	166839020	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cattatcctgtgtgagaagtCtatgagcttcaaggtcaaac	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166839020C>A	ENST00000367874.4	-	2	239	c.146G>T	c.(145-147)aGa>aTa	p.R49I		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	49					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TGTGAGAAGTCTATGAGCTTC	0.363													False	0	False	1:166839020	0	A	166839020	C	A	166839020	3	1	88	1	0	0	0	0	1	0	0	0	15591	913	32	3	889	3	TADA1	1	166839020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19963	166839020	82411601	1338	9050											
MAEL	84944	broad.mit.edu	37	chr1	166991023	166991023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatatccacaaattctccaaCtgtgacacttcactctcacc	2	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166991023C>A	ENST00000367872.4	+	12	1480	c.1236C>A	c.(1234-1236)aaC>aaA	p.N412K	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.N381K	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	412					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AATTCTCCAACTGTGACACTT	0.393													False	0	False	1:166991023	0	A	166991023	C	A	166991023	3	1	88	1	0	0	0	0	1	0	0	0	9217	564	20	3	1282	3	MAEL	1	166991023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152003	166991023	82259598	1339	9051											
GPA33	10223	broad.mit.edu	37	chr1	167023611	167023611	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggattcacgcccagtgctcCtctgctcttcttgcctgtag	10	14	4	0	rs146470813		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167023611C>A	ENST00000367868.3	-	7	1263	c.920G>T	c.(919-921)aGg>aTg	p.R307M	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	307						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCCAGTGCTCCTCTGCTCTTC	0.612													False	0	False	1:167023611	0	A	167023611	C	A	167023611	3	1	88	1	0	0	0	0	1	0	0	0	6632	681	24	3	43	3	GPA33	1	167023611	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32588	167023611	82227010	1340	9052											
DUSP27	92235	broad.mit.edu	37	chr1	167088604	167088604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acactggcctggagatccagTacctgggtgtagaggtggat	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167088604T>C	ENST00000361200.2	+	5	722	c.556T>C	c.(556-558)Tac>Cac	p.Y186H	DUSP27_ENST00000443333.1_Missense_Mutation_p.Y186H|DUSP27_ENST00000271385.5_Missense_Mutation_p.Y186H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	186					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGATCCAGTACCTGGGTGT	0.567													False	0	False	1:167088604	0	C	167088604	T	C	167088604	3	2	88	1	0	0	0	0	1	0	0	0	4854	1638	57	4	570	4	DUSP27	1	167088604	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64993	167088604	82162017	1341	9053											
DUSP27	92235	broad.mit.edu	37	chr1	167096291	167096291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacgctggaggagagccaGtctatggcaagctgggaggc	17	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167096291G>A	ENST00000361200.2	+	6	2089	c.1923G>A	c.(1921-1923)caG>caA	p.Q641Q	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.Q641Q|DUSP27_ENST00000271385.5_Silent_p.Q641Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	641					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGAGAGCCAGTCTATGGCAA	0.637													False	0	False	1:167096291	0	A	167096291	G	A	167096291	2	1	88	1	0	0	0	0	0	0	0	1	4854	1020	36	2		2	DUSP27	1	167096291	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7687	167096291	82154330	1342	9054											
DUSP27	92235	broad.mit.edu	37	chr1	167097083	167097083	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttcccgcagtaattcccaGaaacctgaaacagacacatg	6	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097083G>T	ENST00000361200.2	+	6	2881	c.2715G>T	c.(2713-2715)caG>caT	p.Q905H	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.Q905H|DUSP27_ENST00000271385.5_Missense_Mutation_p.Q905H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	905	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTAATTCCCAGAAACCTGAAA	0.493													False	0	True	1:167097083	0	T	167097083	G	T	167097083	3	4	88	1	0	0	0	0	1	0	0	0	4854	933	33	3	2733	3	DUSP27	1	167097083	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	792	167097083	82153538	1343	9055											
DUSP27	92235	broad.mit.edu	37	chr1	167097360	167097360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctaccacgaggcaaatGgcaactctgtaagaagcact	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097360G>A	ENST00000361200.2	+	6	3158	c.2992G>A	c.(2992-2994)Ggc>Agc	p.G998S	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.G998S|DUSP27_ENST00000271385.5_Missense_Mutation_p.G998S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	998	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGAGGCAAATGGCAACTCTGT	0.517													False	0	False	1:167097360	0	A	167097360	G	A	167097360	3	1	88	1	0	0	0	0	1	0	0	0	4854	1348	47	2	3010	2	DUSP27	1	167097360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	277	167097360	82153261	1344	9056											
DUSP27	92235	broad.mit.edu	37	chr1	167097700	167097700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaaacagagaagaagggaGgtttgcatctggacggcggt	16	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097700G>T	ENST00000361200.2	+	6	3498	c.3332G>T	c.(3331-3333)aGg>aTg	p.R1111M	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1111M|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1111M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1111					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAAGAAGGGAGGTTTGCATCT	0.512													False	0	False	1:167097700	0	T	167097700	G	T	167097700	3	4	88	1	0	0	0	0	1	0	0	0	4854	1000	35	3	3350	3	DUSP27	1	167097700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340	167097700	82152921	1345	9057											
DUSP27	92235	broad.mit.edu	37	chr1	167097730	167097730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacggcggtcccagtatcGgagaagcactgacagggagg	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097730G>A	ENST00000361200.2	+	6	3528	c.3362G>A	c.(3361-3363)cGg>cAg	p.R1121Q	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121Q|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1121Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1121					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCCCAGTATCGGAGAAGCACT	0.512													False	0	False	1:167097730	0	A	167097730	G	A	167097730	3	1	88	1	0	0	0	0	1	0	0	0	4854	1116	39	1	3380	1	DUSP27	1	167097730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	167097730	82152891	1346	9058											
POU2F1	5451	broad.mit.edu	37	chr1	167381303	167381303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctccccttctgcctcaGcctccacctccgaggcatcc	6	22	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167381303G>A	ENST00000367862.5	+	14	1865	c.1630G>A	c.(1630-1632)Gcc>Acc	p.A544T	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.A492T|POU2F1_ENST00000541643.3_Missense_Mutation_p.A532T|POU2F1_ENST00000420254.3_Missense_Mutation_p.A532T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A555T	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	532					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TTCTGCCTCAGCCTCCACCTC	0.602													False	0	False	1:167381303	0	A	167381303	G	A	167381303	3	1	88	1	0	0	0	0	1	0	0	0	12340	971	34	2	1644	2	POU2F1	1	167381303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	283573	167381303	81869318	1347	9059											
CREG1	8804	broad.mit.edu	37	chr1	167517320	167517320	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtttcttgcagaagttggtCtgtgccaaagtcatggtcag	12	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167517320C>T	ENST00000370509.4	-	2	418	c.393G>A	c.(391-393)caG>caA	p.Q131Q		NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes 1	131					cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity										AGAAGTTGGTCTGTGCCAAAG	0.398													False	0	False	1:167517320	0	T	167517320	C	T	167517320	2	4	88	1	0	0	0	0	0	0	0	1	3887	912	32	2		2	CREG1	1	167517320	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136017	167517320	81733301	1348	9060											
RCSD1	92241	broad.mit.edu	37	chr1	167663376	167663376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctctactgcctggggCctcacccaagagtcctggac	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167663376C>T	ENST00000367854.3	+	5	642	c.311C>T	c.(310-312)gCc>gTc	p.A104V	RCSD1_ENST00000537350.1_Missense_Mutation_p.A74V	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	104										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTGCCTGGGGCCTCACCCAAG	0.532													False	0	True	1:167663376	0	T	167663376	C	T	167663376	3	4	88	1	0	0	0	0	1	0	0	0	13264	739	26	2	329	2	RCSD1	1	167663376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146056	167663376	81587245	1349	9061											
ADCY10	55811	broad.mit.edu	37	chr1	167778989	167778989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctgaatgtttaccctgcCtgctacaattttttcccatg	5	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167778989C>A	ENST00000367848.1	-	33	4980	c.4483G>T	c.(4483-4485)Ggc>Tgc	p.G1495C	ADCY10_ENST00000367851.4_Missense_Mutation_p.G1587C|ADCY10_ENST00000545172.1_Missense_Mutation_p.G1434C			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1587					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTACCCTGCCTGCTACAATT	0.373													False	0	True	1:167778989	0	A	167778989	C	A	167778989	3	1	88	1	0	0	0	0	1	0	0	0	293	681	24	3	77	3	ADCY10	1	167778989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115613	167778989	81471632	1350	9062											
ADCY10	55811	broad.mit.edu	37	chr1	167793916	167793916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggccaaatccaggtgtcCcattatgagcttgttgaaga	10	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167793916C>T	ENST00000367848.1	-	27	4149	c.3652G>A	c.(3652-3654)Gga>Aga	p.G1218R	ADCY10_ENST00000367851.4_Missense_Mutation_p.G1310R|ADCY10_ENST00000545172.1_Missense_Mutation_p.G1157R			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1310					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCCAGGTGTCCCATTATGAGC	0.498													False	0	True	1:167793916	0	T	167793916	C	T	167793916	3	4	88	1	0	0	0	0	1	0	0	0	293	632	22	2	932	2	ADCY10	1	167793916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14927	167793916	81456705	1351	9063											
ADCY10	55811	broad.mit.edu	37	chr1	167793999	167793999	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagggggaggttgaagAtgtgctccatggccatgact	14	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167793999A>T	ENST00000367848.1	-	27	4066	c.3569T>A	c.(3568-3570)aTc>aAc	p.I1190N	ADCY10_ENST00000367851.4_Missense_Mutation_p.I1282N|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1129N			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1282					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GAGGTTGAAGATGTGCTCCAT	0.488													False	0	False	1:167793999	0	T	167793999	A	T	167793999	3	4	88	1	0	0	0	0	1	0	0	0	293	333	12	5	1015	5	ADCY10	1	167793999	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83	167793999	81456622	1352	9064											
ADCY10	55811	broad.mit.edu	37	chr1	167802330	167802330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaagttgtaaggaaagattCggttgaggagcttcagtgcc	13	5	1	2	rs143185037		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167802330C>T	ENST00000367848.1	-	25	3709	c.3212G>A	c.(3211-3213)cGa>cAa	p.R1071Q	ADCY10_ENST00000367851.4_Missense_Mutation_p.R1163Q|ADCY10_ENST00000545172.1_Missense_Mutation_p.R1010Q			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1163					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGGAAAGATTCGGTTGAGGAG	0.468													False	0	False	1:167802330	0	T	167802330	C	T	167802330	3	4	88	1	0	0	0	0	1	0	0	0	293	884	31	1	1380	1	ADCY10	1	167802330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8331	167802330	81448291	1353	9065											
ADCY10	55811	broad.mit.edu	37	chr1	167847775	167847775	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagctctttaaaaaagtacgCtggtaggttgctcccattgt	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167847775C>A	ENST00000367848.1	-	12	1536	c.1039G>T	c.(1039-1041)Gcg>Tcg	p.A347S	ADCY10_ENST00000367851.4_Missense_Mutation_p.A439S|ADCY10_ENST00000545172.1_Missense_Mutation_p.A286S			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	439	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAAAAGTACGCTGGTAGGTTG	0.443													False	0	False	1:167847775	0	A	167847775	C	A	167847775	3	1	88	1	0	0	0	0	1	0	0	0	293	797	28	3	3605	3	ADCY10	1	167847775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45445	167847775	81402846	1354	9066											
ADCY10	55811	broad.mit.edu	37	chr1	167863127	167863127	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccatcacatacttttgtagGgacatctccagttcaggatc	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167863127G>T	ENST00000367848.1	-	8	1013	c.516C>A	c.(514-516)tcC>tcA	p.S172S	ADCY10_ENST00000367851.4_Silent_p.S264S|ADCY10_ENST00000545172.1_Silent_p.S111S			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	264	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACTTTTGTAGGGACATCTCCA	0.468													False	0	True	1:167863127	0	T	167863127	G	T	167863127	2	4	88	1	0	0	0	0	0	0	0	1	293	1219	43	3		3	ADCY10	1	167863127	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15352	167863127	81387494	1355	9067											
ADCY10	55811	broad.mit.edu	37	chr1	167874257	167874257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatcaacaaacatcaggactCcgtcaaaataatccataaag	4	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167874257C>T	ENST00000367851.4	-	2	306	c.122G>A	c.(121-123)gGa>gAa	p.G41E	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.G41E	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	41					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATCAGGACTCCGTCAAAATA	0.453													False	0	False	1:167874257	0	T	167874257	C	T	167874257	3	4	88	1	0	0	0	0	1	0	0	0	293	855	30	2	4838	2	ADCY10	1	167874257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11130	167874257	81376364	1356	9068											
ADCY10	55811	broad.mit.edu	37	chr1	167874374	167874374	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaattcttcttttggagtgTtcatgttcaagacaaatgtt	9	5	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167874374T>G	ENST00000367851.4	-	2	189	c.5A>C	c.(4-6)aAc>aCc	p.N2T	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.N2T	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	2					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTTGGAGTGTTCATGTTCAA	0.393													False	0	True	1:167874374	0	G	167874374	T	G	167874374	3	3	88	1	0	0	0	0	1	0	0	0	293	1725	60	4	4955	4	ADCY10	1	167874374	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117	167874374	81376247	1357	9069											
DCAF6	55827	broad.mit.edu	37	chr1	167944232	167944232	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaatgccaatttacgtgTcattatggaactacttatga	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167944232T>C	ENST00000367840.3	+	4	511	c.417T>C	c.(415-417)tgT>tgC	p.C139C	DCAF6_ENST00000432587.2_Silent_p.C108C|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000312263.6_Silent_p.C139C|DCAF6_ENST00000367843.3_Silent_p.C139C	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	139					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AATTTACGTGTCATTATGGAA	0.313													False	0	False	1:167944232	0	C	167944232	T	C	167944232	2	2	88	1	0	0	0	0	0	0	0	1	4299	1673	58	4		4	DCAF6	1	167944232	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69858	167944232	81306389	1358	9070											
TIPRL	261726	broad.mit.edu	37	chr1	168153250	168153250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagttcaatgctacagatgCgttaagatgtgtaaacaact	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168153250C>T	ENST00000367833.2	+	2	360	c.215C>T	c.(214-216)gCg>gTg	p.A72V	TIPRL_ENST00000367830.3_Missense_Mutation_p.A72V	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	72					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding	p.A72V(1)		breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GCTACAGATGCGTTAAGATGT	0.413													False	0	False	1:168153250	0	T	168153250	C	T	168153250	3	4	88	1	0	0	0	0	1	0	0	0	16008	768	27	1	221	1	TIPRL	1	168153250	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209018	168153250	81097371	1359	9071											
SFT2D2	375035	broad.mit.edu	37	chr1	168205957	168205957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatttttccagtggcataAcaagggacttgcacttatct	7	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168205957A>G	ENST00000271375.4	+	6	434	c.362A>G	c.(361-363)aAc>aGc	p.N121S	SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367825.3_Missense_Mutation_p.T94A|SFT2D2_ENST00000367829.1_Missense_Mutation_p.T94A	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN	SFT2 domain containing 2						protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					CAGTGGCATAACAAGGGACTT	0.368													False	0	False	1:168205957	0	G	168205957	A	G	168205957	3	3	88	1	0	0	0	0	1	0	0	0	14267	43	2	4	384	4	SFT2D2	1	168205957	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52707	168205957	81044664	1360	9072											
SFT2D2	375035	broad.mit.edu	37	chr1	168211761	168211761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgtgaagaagtgttttGccgtgtgtcttgcataattc	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168211761G>A	ENST00000271375.4	+	8	538	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	SFT2D2_ENST00000367825.3_3'UTR	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN	SFT2 domain containing 2						protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					GAAGTGTTTTGCCGTGTGTCT	0.458													False	0	True	1:168211761	0	A	168211761	G	A	168211761	3	1	88	1	0	0	0	0	1	0	0	0	14267	1319	46	2	496	2	SFT2D2	1	168211761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5804	168211761	81038860	1361	9073											
TBX19	9095	broad.mit.edu	37	chr1	168260462	168260462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatgccatgtactccctcCtgctggactttgtccctacg	7	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168260462C>T	ENST00000367821.3	+	2	319	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	90					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GTACTCCCTCCTGCTGGACTT	0.552													False	0	True	1:168260462	0	T	168260462	C	T	168260462	2	4	88	1	0	0	0	0	0	0	0	1	15736	680	24	2		2	TBX19	1	168260462	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48701	168260462	80990159	1362	9074											
SLC19A2	10560	broad.mit.edu	37	chr1	169446393	169446393	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatttaaggctgagcttacCggttcctccacgggaggctc	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169446393C>T	ENST00000236137.5	-	2	1043	c.807G>A	c.(805-807)ccG>ccA	p.P269P	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	269					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					CTGAGCTTACCGGTTCCTCCA	0.468													False	0	False	1:169446393	0	T	169446393	C	T	169446393	5	4	88	1	0	0	0	0	0	0	1	0	14510	666	23	1	706	1	SLC19A2	1	169446393	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1185931	169446393	79804228	1363	9075											
F5	2153	broad.mit.edu	37	chr1	169511289	169511289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctactctttcctccatcCtgtcttacttgtagagattt	5	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169511289C>T	ENST00000367796.3	-	13	3255	c.3054G>A	c.(3052-3054)caG>caA	p.Q1018Q	F5_ENST00000367797.3_Silent_p.Q1013Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1013	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTCCTCCATCCTGTCTTACTT	0.448													False	0	False	1:169511289	0	T	169511289	C	T	169511289	2	4	88	1	0	0	0	0	0	0	0	1	5381	680	24	2		2	F5	1	169511289	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64896	169511289	79739332	1364	9076											
F5	2153	broad.mit.edu	37	chr1	169524465	169524465	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatagtcccaaatgactTcctctgcagcaatgaagtat	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169524465T>G	ENST00000367796.3	-	7	1274	c.1073A>C	c.(1072-1074)gAa>gCa	p.E358A	F5_ENST00000367797.3_Missense_Mutation_p.E358A|F5_ENST00000546081.1_Missense_Mutation_p.E221A			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	358	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCAAATGACTTCCTCTGCAGC	0.448													False	0	False	1:169524465	0	G	169524465	T	G	169524465	3	3	88	1	0	0	0	0	1	0	0	0	5381	1783	62	4	5677	4	F5	1	169524465	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13176	169524465	79726156	1365	9077											
F5	2153	broad.mit.edu	37	chr1	169524540	169524540	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttattttcttaagattcctgGttttctttgggcagttttta	7	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169524540G>T	ENST00000367796.3	-	7	1199	c.998C>A	c.(997-999)aCc>aAc	p.T333N	F5_ENST00000367797.3_Missense_Mutation_p.T333N|F5_ENST00000546081.1_Missense_Mutation_p.T196N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	333					cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AAGATTCCTGGTTTTCTTTGG	0.413													False	0	True	1:169524540	0	T	169524540	G	T	169524540	3	4	88	1	0	0	0	0	1	0	0	0	5381	1261	44	3	5752	3	F5	1	169524540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75	169524540	79726081	1366	9078											
SELP	6403	broad.mit.edu	37	chr1	169578832	169578832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaaaccttcagcacagcGgaagctacagttggtgtcat	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169578832G>A	ENST00000263686.6	-	8	1280	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	SELP_ENST00000367788.2_Missense_Mutation_p.R353C|SELP_ENST00000458599.2_Missense_Mutation_p.R353C|SELP_ENST00000367794.2_Missense_Mutation_p.R353C|SELP_ENST00000367786.2_Missense_Mutation_p.R353C|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.R353C|SELP_ENST00000367792.2_Missense_Mutation_p.R353C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	415	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCAGCACAGCGGAAGCTACAG	0.517													False	0	False	1:169578832	0	A	169578832	G	A	169578832	3	1	88	1	0	0	0	0	1	0	0	0	14100	1116	39	1	1285	1	SELP	1	169578832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54292	169578832	79671789	1367	9079											
SELP	6403	broad.mit.edu	37	chr1	169588378	169588378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtttaccagagatcaggGcactgaagcaaaggagttgg	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169588378G>A	ENST00000263686.6	-	2	120	c.83C>T	c.(82-84)gCc>gTc	p.A28V	SELP_ENST00000367788.2_Missense_Mutation_p.A28V|SELP_ENST00000458599.2_Missense_Mutation_p.A28V|SELP_ENST00000367794.2_Missense_Mutation_p.A28V|SELP_ENST00000367786.2_Missense_Mutation_p.A28V|SELP_ENST00000367791.2_Missense_Mutation_p.A28V|SELP_ENST00000367793.2_Missense_Mutation_p.A28V|SELP_ENST00000367792.2_Missense_Mutation_p.A28V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	28					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AGAGATCAGGGCACTGAAGCA	0.418													False	0	True	1:169588378	0	A	169588378	G	A	169588378	3	1	88	1	0	0	0	0	1	0	0	0	14100	1203	42	2	2469	2	SELP	1	169588378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9546	169588378	79662243	1368	9080											
SELE	6401	broad.mit.edu	37	chr1	169695051	169695051	+	Missense_Mutation	SNP	G	G	A													ataagaatgcaacttacctgGcaggaacaaatttctttgct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169695051G>A	ENST00000333360.7	-	12	1911	c.1772C>T	c.(1771-1773)gCc>gTc	p.A591V	SELE_ENST00000367774.1_Missense_Mutation_p.A465V|SELE_ENST00000367781.4_Missense_Mutation_p.A528V|SELE_ENST00000367782.4_Missense_Mutation_p.A528V|SELE_ENST00000367780.4_Missense_Mutation_p.A466V|SELE_ENST00000367777.1_Missense_Mutation_p.A528V|SELE_ENST00000367775.1_Missense_Mutation_p.A466V|SELE_ENST00000367776.1_Missense_Mutation_p.A528V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.A465V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	591					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACTTACCTGGCAGGAACAAA	0.328													False	0	False	1:169695051	0	A	169695051	G	A	169695051	3	1	88	1	0	0	0	0	1	0	0	0	14094	1203	42	2	68	2	SELE	1	169695051	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106673	169695051	79555570	1369	9081	147	2									
SELE	6401	broad.mit.edu	37	chr1	169695060	169695060	+	Missense_Mutation	SNP	A	A	C													caacttacctggcaggaacaAatttctttgctgcaaaagaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169695060A>C	ENST00000333360.7	-	12	1902	c.1763T>G	c.(1762-1764)tTt>tGt	p.F588C	SELE_ENST00000367774.1_Missense_Mutation_p.F462C|SELE_ENST00000367781.4_Missense_Mutation_p.F525C|SELE_ENST00000367782.4_Missense_Mutation_p.F525C|SELE_ENST00000367780.4_Missense_Mutation_p.F463C|SELE_ENST00000367777.1_Missense_Mutation_p.F525C|SELE_ENST00000367775.1_Missense_Mutation_p.F463C|SELE_ENST00000367776.1_Missense_Mutation_p.F525C|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.F462C	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	588					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GGCAGGAACAAATTTCTTTGC	0.323													False	0	True	1:169695060	0	C	169695060	A	C	169695060	3	2	88	1	0	0	0	0	1	0	0	0	14094	14	1	4	77	4	SELE	1	169695060	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9	169695060	79555561	1370	9082	147	2									
C1orf112	55732	broad.mit.edu	37	chr1	169821053	169821053	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgctaatgtgactgtagaAgaagcaaagaggtcatcttt	10	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169821053A>G	ENST00000286031.6	+	23	3040	c.2340A>G	c.(2338-2340)gaA>gaG	p.E780E	SCYL3_ENST00000367771.6_3'UTR|C1orf112_ENST00000359326.4_Silent_p.E780E|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	780										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGACTGTAGAAGAAGCAAAGA	0.423													False	0	False	1:169821053	0	G	169821053	A	G	169821053	2	3	88	1	0	0	0	0	0	0	0	1	2000	69	3	4		4	C1orf112	1	169821053	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	125993	169821053	79429568	1371	9083											
SCYL3	57147	broad.mit.edu	37	chr1	169847944	169847944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttagcaagcaagggtgaCgaagtgtcttcaaatgcttt	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169847944C>T	ENST00000367771.6	-	3	396	c.182G>A	c.(181-183)cGt>cAt	p.R61H	SCYL3_ENST00000367772.4_Missense_Mutation_p.R61H|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Missense_Mutation_p.R61H	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)		Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAAGGGTGACGAAGTGTCTT	0.408													False	0	False	1:169847944	0	T	169847944	C	T	169847944	3	4	88	1	0	0	0	0	1	0	0	0	14030	536	19	1	2094	1	SCYL3	1	169847944	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26891	169847944	79402677	1372	9084											
KIFAP3	22920	broad.mit.edu	37	chr1	169890879	169890879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatatgctgtggcagggcGtccaagaatgccaactggtt	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169890879G>A	ENST00000367765.1	-	20	3698	c.2197C>T	c.(2197-2199)Cgc>Tgc	p.R733C	KIFAP3_ENST00000367767.1_Missense_Mutation_p.R729C|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R695C|KIFAP3_ENST00000540905.1_Missense_Mutation_p.R475C|KIFAP3_ENST00000361580.2_Missense_Mutation_p.R773C	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	773					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGGCAGGGCGTCCAAGAATG	0.413													False	0	False	1:169890879	0	A	169890879	G	A	169890879	3	1	88	1	0	0	0	0	1	0	0	0	8361	1145	40	1	65	1	KIFAP3	1	169890879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42935	169890879	79359742	1373	9085											
KIFAP3	22920	broad.mit.edu	37	chr1	169941689	169941689	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtattatcacagacctttcGgatttcattattcttatcat	4	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169941689G>A	ENST00000367765.1	-	17	3329	c.1828C>T	c.(1828-1830)Cga>Tga	p.R610*	KIFAP3_ENST00000367767.1_Nonsense_Mutation_p.R606*|KIFAP3_ENST00000538366.1_Nonsense_Mutation_p.R572*|KIFAP3_ENST00000540905.1_Nonsense_Mutation_p.R352*|KIFAP3_ENST00000361580.2_Nonsense_Mutation_p.R650*	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	650					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGACCTTTCGGATTTCATTA	0.313													False	0	False	1:169941689	0	A	169941689	G	A	169941689	4	1	88	1	0	0	0	0	0	1	0	0	8361	1124	39	1	446	1	KIFAP3	1	169941689	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50810	169941689	79308932	1374	9086											
KIFAP3	22920	broad.mit.edu	37	chr1	169951979	169951979	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctcttcttcatcattagaGatctgggctgcaaggtcccc	8	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169951979G>A	ENST00000367765.1	-	14	2917	c.1416C>T	c.(1414-1416)atC>atT	p.I472I	KIFAP3_ENST00000367767.1_Silent_p.I468I|KIFAP3_ENST00000538366.1_Silent_p.I434I|KIFAP3_ENST00000540905.1_Silent_p.I214I|KIFAP3_ENST00000361580.2_Silent_p.I512I	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	512					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATCATTAGAGATCTGGGCTG	0.313													False	0	False	1:169951979	0	A	169951979	G	A	169951979	2	1	88	1	0	0	0	0	0	0	0	1	8361	932	33	2		2	KIFAP3	1	169951979	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10290	169951979	79298642	1375	9087											
FMO3	2328	broad.mit.edu	37	chr1	171083225	171083225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgtccgtaaagcctaaCgtgaaggaattcacagagac	10	8	1	2	rs2066536		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171083225C>T	ENST00000367755.4	+	7	1017	c.906C>T	c.(904-906)aaC>aaT	p.N302N	FMO3_ENST00000392085.2_Silent_p.N302N|FMO3_ENST00000542847.1_Silent_p.N282N|FMO3_ENST00000538429.1_Silent_p.N239N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	302					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAAGCCTAACGTGAAGGAAT	0.453													False	0	False	1:171083225	0	T	171083225	C	T	171083225	2	4	88	1	0	0	0	0	0	0	0	1	5996	535	19	1		1	FMO3	1	171083225	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1131246	171083225	78167396	1376	9088											
FMO2	2327	broad.mit.edu	37	chr1	171173107	171173107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtttcgttctatgctccGcaatgtactgccacgaacag	9	13	1	0	rs144453751		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171173107G>A	ENST00000441535.1	+	6	848	c.731G>A	c.(730-732)cGc>cAc	p.R244H	RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.R244H|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	244					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTATGCTCCGCAATGTACTG	0.473													False	0	False	1:171173107	0	A	171173107	G	A	171173107	3	1	88	1	0	0	0	0	1	0	0	0	5995	1087	38	1	749	1	FMO2	1	171173107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89882	171173107	78077514	1377	9089											
FMO2	2327	broad.mit.edu	37	chr1	171177942	171177942	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcactaaggtttggagaAagccagagccagacgttgca	11	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171177942A>G	ENST00000441535.1	+	9	1383	c.1266A>G	c.(1264-1266)gaA>gaG	p.E422E	RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000209929.7_Silent_p.E422E|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	422					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTTTGGAGAAAGCCAGAGCC	0.408													False	0	True	1:171177942	0	G	171177942	A	G	171177942	2	3	88	1	0	0	0	0	0	0	0	1	5995	11	1	4		4	FMO2	1	171177942	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4835	171177942	78072679	1378	9090											
FMO1	2326	broad.mit.edu	37	chr1	171248003	171248003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaggccagccacctggCggaaaaggtacattcctgat	13	10	0	1	rs146934200		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171248003C>T	ENST00000354841.4	+	4	751	c.620C>T	c.(619-621)gCg>gTg	p.A207V	FMO1_ENST00000402921.2_Missense_Mutation_p.A144V|FMO1_ENST00000367750.3_Missense_Mutation_p.A207V|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	207					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCCACCTGGCGGAAAAGGTA	0.428													False	0	False	1:171248003	0	T	171248003	C	T	171248003	3	4	88	1	0	0	0	0	1	0	0	0	5994	768	27	1	634	1	FMO1	1	171248003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70061	171248003	78002618	1379	9091											
FMO4	2329	broad.mit.edu	37	chr1	171303754	171303754	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagaacctcttaaaagcctCtgtacaaagaagatatttct	6	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171303754C>A	ENST00000367749.3	+	8	1362	c.1032C>A	c.(1030-1032)ctC>ctA	p.L344L		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	344					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.L344L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTAAAAGCCTCTGTACAAAGA	0.378													False	0	False	1:171303754	0	A	171303754	C	A	171303754	2	1	88	1	0	0	0	0	0	0	0	1	5997	900	32	3		3	FMO4	1	171303754	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55751	171303754	77946867	1380	9092											
MYOC	4653	broad.mit.edu	37	chr1	171621507	171621507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggcctccaggtctaagCgttgggtgctgctgtctctc	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171621507C>T	ENST00000037502.6	-	1	316	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response				R -> C (in GLC1A).|R -> H.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGTCTAAGCGTTGGGTGCT	0.582													False	0	False	1:171621507	0	T	171621507	C	T	171621507	3	4	88	1	0	0	0	0	1	0	0	0	10153	768	27	1	1281	1	MYOC	1	171621507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317753	171621507	77629114	1381	9093											
METTL13	51603	broad.mit.edu	37	chr1	171759640	171759640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcagcggcctgctgatgCggaggacctccctgcagccc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171759640C>T	ENST00000361735.3	+	5	1624	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	METTL13_ENST00000458517.1_Missense_Mutation_p.A452V|METTL13_ENST00000466643.1_Intron|METTL13_ENST00000362019.3_Missense_Mutation_p.A367V|METTL13_ENST00000367737.5_Missense_Mutation_p.A297V	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	453							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CCTGCTGATGCGGAGGACCTC	0.532													False	0	False	1:171759640	0	T	171759640	C	T	171759640	3	4	88	1	0	0	0	0	1	0	0	0	9564	768	27	1	1376	1	METTL13	1	171759640	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138133	171759640	77490981	1382	9094											
METTL13	51603	broad.mit.edu	37	chr1	171765763	171765763	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgttctgtcagctgcaccCtgagcaaaaacttgccacac	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171765763C>A	ENST00000361735.3	+	8	2233	c.1967C>A	c.(1966-1968)cCt>cAt	p.P656H	METTL13_ENST00000458517.1_Missense_Mutation_p.P655H|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Missense_Mutation_p.P570H|METTL13_ENST00000367737.5_Missense_Mutation_p.P500H	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	656							methyltransferase activity|protein binding	p.P656L(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CAGCTGCACCCTGAGCAAAAA	0.552													False	0	True	1:171765763	0	A	171765763	C	A	171765763	3	1	88	1	0	0	0	0	1	0	0	0	9564	681	24	3	1997	3	METTL13	1	171765763	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6123	171765763	77484858	1383	9095											
FASLG	356	broad.mit.edu	37	chr1	172634947	172634947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagccacaaggtctacAtgaggaactctaagtatccc	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172634947A>G	ENST00000367721.2	+	4	821	c.637A>G	c.(637-639)Atg>Gtg	p.M213V	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	213					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CAAGGTCTACATGAGGAACTC	0.512													False	0	False	1:172634947	0	G	172634947	A	G	172634947	3	3	88	1	0	0	0	0	1	0	0	0	5722	217	8	4	651	4	FASLG	1	172634947	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	869184	172634947	76615674	1384	9096											
TNFSF18	8995	broad.mit.edu	37	chr1	173010570	173010570	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgtattattttttagaacCtgatgctcagagttgaatat	7	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173010570C>A	ENST00000404377.3	-	3	537	c.537G>T	c.(535-537)caG>caT	p.Q179H	RP1-15D23.2_ENST00000432694.2_lincRNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.Q157H	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	179					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TTTTTAGAACCTGATGCTCAG	0.368													False	0	False	1:173010570	0	A	173010570	C	A	173010570	3	1	88	1	0	0	0	0	1	0	0	0	16391	680	24	3	66	3	TNFSF18	1	173010570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375623	173010570	76240051	1385	9097											
KLHL20	27252	broad.mit.edu	37	chr1	173722355	173722355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttattttctcataggtgCtgcagcatgttcgtttgcct	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173722355C>T	ENST00000209884.4	+	5	896	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	KLHL20_ENST00000546011.1_Silent_p.L65L	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	254	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CTCATAGGTGCTGCAGCATGT	0.428													False	0	False	1:173722355	0	T	173722355	C	T	173722355	2	4	88	1	0	0	0	0	0	0	0	1	8425	796	28	2		2	KLHL20	1	173722355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	711785	173722355	75528266	1386	9098											
KLHL20	27252	broad.mit.edu	37	chr1	173744779	173744779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttccctacagtggaacGttacaatcctcaggaaaaca	6	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173744779G>A	ENST00000209884.4	+	10	1572	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	KLHL20_ENST00000546011.1_Missense_Mutation_p.R290H	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	479					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACAGTGGAACGTTACAATCCT	0.438													False	0	False	1:173744779	0	A	173744779	G	A	173744779	3	1	88	1	0	0	0	0	1	0	0	0	8425	1145	40	1	1470	1	KLHL20	1	173744779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22424	173744779	75505842	1387	9099											
KLHL20	27252	broad.mit.edu	37	chr1	173744849	173744849	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggaggaaacacctaggctgTgcagtatatcaggacatgat	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173744849T>C	ENST00000209884.4	+	10	1642	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	KLHL20_ENST00000546011.1_Silent_p.C313C	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	502					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACCTAGGCTGTGCAGTATATC	0.488													False	0	False	1:173744849	0	C	173744849	T	C	173744849	2	2	88	1	0	0	0	0	0	0	0	1	8425	1702	59	4		4	KLHL20	1	173744849	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	70	173744849	75505772	1388	9100											
CENPL	91687	broad.mit.edu	37	chr1	173772420	173772420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccaggaaagattaaatGcattgattgctaaaggactg	9	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173772420G>A	ENST00000356198.2	-	6	1067	c.782C>T	c.(781-783)gCa>gTa	p.A261V	CENPL_ENST00000345664.6_Missense_Mutation_p.A215V|CENPL_ENST00000367710.3_Missense_Mutation_p.A215V	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	215					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AAGATTAAATGCATTGATTGC	0.413													False	0	False	1:173772420	0	A	173772420	G	A	173772420	3	1	88	1	0	0	0	0	1	0	0	0	3259	1319	46	2	398	2	CENPL	1	173772420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27571	173772420	75478201	1389	9101											
SERPINC1	462	broad.mit.edu	37	chr1	173878870	173878870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttccttctctaccttggCcaggctcttctcaggcttgg	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173878870C>T	ENST00000367698.3	-	5	1091	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	325					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TCTACCTTGGCCAGGCTCTTC	0.562													False	0	False	1:173878870	0	T	173878870	C	T	173878870	3	4	88	1	0	0	0	0	1	0	0	0	14190	739	26	2	433	2	SERPINC1	1	173878870	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106450	173878870	75371751	1390	9102											
SERPINC1	462	broad.mit.edu	37	chr1	173881079	173881079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttggcttttcgatagagtCggcagttcagtttggcaaag	13	6	1	1	rs121909563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173881079C>T	ENST00000367698.3	-	3	600	c.482G>A	c.(481-483)cGa>cAa	p.R161Q		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	161			R -> Q (in AT3D; type-II; Geneva).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TCGATAGAGTCGGCAGTTCAG	0.398													False	0	False	1:173881079	0	T	173881079	C	T	173881079	3	4	88	1	0	0	0	0	1	0	0	0	14190	884	31	1	932	1	SERPINC1	1	173881079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2209	173881079	75369542	1391	9103											
RC3H1	149041	broad.mit.edu	37	chr1	173931058	173931058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacactcgacggccatcataGtgagatgggtatataggtgg	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173931058G>A	ENST00000367696.2	-	12	2358	c.2007C>T	c.(2005-2007)caC>caT	p.H669H	RC3H1_ENST00000258349.4_Silent_p.H669H|RC3H1_ENST00000367694.2_Silent_p.H669H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	669	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGCCATCATAGTGAGATGGGT	0.488													False	0	False	1:173931058	0	A	173931058	G	A	173931058	2	1	88	1	0	0	0	0	0	0	0	1	13245	1020	36	2		2	RC3H1	1	173931058	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49979	173931058	75319563	1392	9104											
RC3H1	149041	broad.mit.edu	37	chr1	173947683	173947683	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttagtcggttcaagtTtgctgggtctccagttcgct	13	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173947683T>G	ENST00000367696.2	-	7	1396	c.1045A>C	c.(1045-1047)Aac>Cac	p.N349H	RC3H1_ENST00000367694.2_Missense_Mutation_p.N349H|RC3H1_ENST00000258349.4_Missense_Mutation_p.N349H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	349					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CGGTTCAAGTTTGCTGGGTCT	0.423													False	0	True	1:173947683	0	G	173947683	T	G	173947683	3	3	88	1	0	0	0	0	1	0	0	0	13245	1841	64	4	2412	4	RC3H1	1	173947683	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16625	173947683	75302938	1393	9105											
RABGAP1L	9910	broad.mit.edu	37	chr1	174190149	174190149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacaattggaaaaagccatgGaagagattttgagagattcc	10	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174190149G>A	ENST00000251507.4	+	3	352	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.E23K	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	60					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	p.E60*(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAAAGCCATGGAAGAGATTTT	0.373													False	0	False	1:174190149	0	A	174190149	G	A	174190149	3	1	88	1	0	0	0	0	1	0	0	0	13044	1175	41	2	184	2	RABGAP1L	1	174190149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242466	174190149	75060472	1394	9106											
RABGAP1L	9910	broad.mit.edu	37	chr1	174210743	174210743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttacagagagttcccAtggttcggaagaatttcaga	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174210743A>G	ENST00000251507.4	+	5	839	c.665A>G	c.(664-666)cAt>cGt	p.H222R	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.H185R	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	222	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GAGAGTTCCCATGGTTCGGAA	0.373													False	0	True	1:174210743	0	G	174210743	A	G	174210743	3	3	88	1	0	0	0	0	1	0	0	0	13044	217	8	4	679	4	RABGAP1L	1	174210743	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20594	174210743	75039878	1395	9107											
RABGAP1L	9910	broad.mit.edu	37	chr1	174241551	174241551	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttttcccccaatattttcaGatgttttggaatgttattaa	5	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174241551G>A	ENST00000251507.4	+	8	1160		c.e8-1		RABGAP1L_ENST00000367689.3_Splice_Site|RABGAP1L_ENST00000357444.6_Splice_Site	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like						regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AATATTTTCAGATGTTTTGGA	0.348													False	0	False	1:174241551	0	A	174241551	G	A	174241551	5	1	88	1	0	0	0	0	0	0	1	0	13044	956	33	2	1012	2	RABGAP1L	1	174241551	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30808	174241551	75009070	1396	9108											
RABGAP1L	9910	broad.mit.edu	37	chr1	174363157	174363157	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtaaccttggtgcacgaccGaaagggctgtctactctggt	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174363157G>A	ENST00000251507.4	+	13	1758	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	RABGAP1L_ENST00000367689.3_Silent_p.P175P|RABGAP1L_ENST00000357444.6_Silent_p.P491P	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	528					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTGCACGACCGAAAGGGCTGT	0.483													False	0	True	1:174363157	0	A	174363157	G	A	174363157	2	1	88	1	0	0	0	0	0	0	0	1	13044	1045	37	1		1	RABGAP1L	1	174363157	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121606	174363157	74887464	1397	9109											
CACYBP	27101	broad.mit.edu	37	chr1	174979110	174979110	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgagggattgatgaatgtTctaaagaaaatttatgaaga	11	1	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174979110T>C	ENST00000367681.2	+	6	1093	c.453T>C	c.(451-453)gtT>gtC	p.V151V	CACYBP_ENST00000405362.1_Silent_p.V151V|CACYBP_ENST00000367679.2_Silent_p.V194V	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	194	CS.|Interaction with SKP1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TGATGAATGTTCTAAAGAAAA	0.403													False	0	False	1:174979110	0	C	174979110	T	C	174979110	2	2	88	1	0	0	0	0	0	0	0	1	2584	1770	62	4		4	CACYBP	1	174979110	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	615953	174979110	74271511	1398	9110											
TNN	63923	broad.mit.edu	37	chr1	175046648	175046648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccactctggagcctcccGgctgcagcaacaaggagcaa	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175046648G>A	ENST00000239462.4	+	2	207	c.94G>A	c.(94-96)Ggc>Agc	p.G32S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	32					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGAGCCTCCCGGCTGCAGCAA	0.602													False	0	True	1:175046648	0	A	175046648	G	A	175046648	3	1	88	1	0	0	0	0	1	0	0	0	16405	1116	39	1	96	1	TNN	1	175046648	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67538	175046648	74203973	1399	9111											
TNN	63923	broad.mit.edu	37	chr1	175048561	175048561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagggccccgcctgcgagCggctggcctgccccggggcg	20	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175048561C>T	ENST00000239462.4	+	3	615	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	168	EGF-like 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCCTGCGAGCGGCTGGCCTG	0.736													False	0	False	1:175048561	0	T	175048561	C	T	175048561	3	4	88	1	0	0	0	0	1	0	0	0	16405	759	27	1	508	1	TNN	1	175048561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1913	175048561	74202060	1400	9112											
TNN	63923	broad.mit.edu	37	chr1	175049459	175049459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccaaggagcagcacagCtatgagattcttggtttgct	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175049459C>T	ENST00000239462.4	+	4	1058	c.945C>T	c.(943-945)agC>agT	p.S315S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	315	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCAGCACAGCTATGAGATTC	0.547													False	0	False	1:175049459	0	T	175049459	C	T	175049459	2	4	88	1	0	0	0	0	0	0	0	1	16405	796	28	2		2	TNN	1	175049459	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	898	175049459	74201162	1401	9113											
TNR	7143	broad.mit.edu	37	chr1	175299240	175299240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgtagcttcctatgcggaGtttgtacaggtttctgctgt	12	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175299240G>T	ENST00000367674.2	-	21	4471	c.3763C>A	c.(3763-3765)Ctc>Atc	p.L1255I	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.L1255I			Q92752	TENR_HUMAN	tenascin R		Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTATGCGGAGTTTGTACAGG	0.602													False	0	True	1:175299240	0	T	175299240	G	T	175299240	3	4	88	1	0	0	0	0	1	0	0	0	16420	1029	36	3	325	3	TNR	1	175299240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249781	175299240	73951381	1402	9114											
TNR	7143	broad.mit.edu	37	chr1	175304878	175304878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctccacgttcccgaaGccaacacggtaatcagccca	6	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175304878G>A	ENST00000367674.2	-	20	4308	c.3600C>T	c.(3598-3600)ggC>ggT	p.G1200G	TNR_ENST00000263525.2_Silent_p.G1200G			Q92752	TENR_HUMAN	tenascin R		Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGTTCCCGAAGCCAACACGGT	0.433													False	0	False	1:175304878	0	A	175304878	G	A	175304878	2	1	88	1	0	0	0	0	0	0	0	1	16420	958	34	2		2	TNR	1	175304878	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5638	175304878	73945743	1403	9115											
TNR	7143	broad.mit.edu	37	chr1	175328762	175328762	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acccacctgcaaagtgtgtaAgaacaatgacgtagttctcc	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175328762A>C	ENST00000367674.2	-	15	3668	c.2960T>G	c.(2959-2961)cTt>cGt	p.L987R	TNR_ENST00000263525.2_Missense_Mutation_p.L987R			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAAGTGTGTAAGAACAATGAC	0.507													False	0	False	1:175328762	0	C	175328762	A	C	175328762	3	2	88	1	0	0	0	0	1	0	0	0	16420	72	3	4	1152	4	TNR	1	175328762	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23884	175328762	73921859	1404	9116											
TNR	7143	broad.mit.edu	37	chr1	175331945	175331945	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctgtctagtcgtcccActggagaagagaagaatcta	11	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175331945A>C	ENST00000367674.2	-	14	3416	c.2708T>G	c.(2707-2709)gTg>gGg	p.V903G	TNR_ENST00000263525.2_Splice_Site_p.V903G			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.V903G(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TAGTCGTCCCACTGGAGAAGA	0.488													False	0	True	1:175331945	0	C	175331945	A	C	175331945	5	2	88	1	0	0	0	0	0	0	1	0	16420	173	6	4	1408	4	TNR	1	175331945	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3183	175331945	73918676	1405	9117											
TNR	7143	broad.mit.edu	37	chr1	175332862	175332862	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accttgggtgggtcgatatgAtactcggtagtaatcgaaag	13	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175332862A>C	ENST00000367674.2	-	13	3397	c.2689T>G	c.(2689-2691)Tca>Gca	p.S897A	TNR_ENST00000263525.2_Missense_Mutation_p.S897A			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTCGATATGATACTCGGTAG	0.438													False	0	False	1:175332862	0	C	175332862	A	C	175332862	3	2	88	1	0	0	0	0	1	0	0	0	16420	333	12	4	1431	4	TNR	1	175332862	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	917	175332862	73917759	1406	9118											
TNR	7143	broad.mit.edu	37	chr1	175335086	175335086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggaaatgatgtactctgCcccaggctctagatctgtta	10	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175335086C>T	ENST00000367674.2	-	11	2950	c.2242G>A	c.(2242-2244)Gca>Aca	p.A748T	TNR_ENST00000263525.2_Missense_Mutation_p.A748T			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATGTACTCTGCCCCAGGCTCT	0.537													False	0	True	1:175335086	0	T	175335086	C	T	175335086	3	4	88	1	0	0	0	0	1	0	0	0	16420	739	26	2	1886	2	TNR	1	175335086	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2224	175335086	73915535	1407	9119											
TNR	7143	broad.mit.edu	37	chr1	175365935	175365935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agccactcgcaagtcctctgGaggggcaactaccgggaggc	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175365935G>T	ENST00000367674.2	-	5	1693	c.985C>A	c.(985-987)Cca>Aca	p.P329T	TNR_ENST00000263525.2_Missense_Mutation_p.P329T			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGTCCTCTGGAGGGGCAACT	0.557													False	0	False	1:175365935	0	T	175365935	G	T	175365935	3	4	88	1	0	0	0	0	1	0	0	0	16420	1174	41	3	3167	3	TNR	1	175365935	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30849	175365935	73884686	1408	9120											
TNR	7143	broad.mit.edu	37	chr1	175375803	175375803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaaggatcaggttgatGccaatgagcatgttcttcag	11	9	3	3	rs142523357	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175375803G>A	ENST00000367674.2	-	3	756	c.48C>T	c.(46-48)ggC>ggT	p.G16G	TNR_ENST00000263525.2_Silent_p.G16G			Q92752	TENR_HUMAN	tenascin R						axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCAGGTTGATGCCAATGAGCA	0.557													False	0	False	1:175375803	0	A	175375803	G	A	175375803	2	1	88	1	0	0	0	0	0	0	0	1	16420	1306	46	2		2	TNR	1	175375803	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9868	175375803	73874818	1409	9121											
RFWD2	64326	broad.mit.edu	37	chr1	176175792	176175792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcgcttcctgctgccgCtgcctaggctggagctgctg	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176175792C>T	ENST00000367669.3	-	1	837	c.323G>A	c.(322-324)aGc>aAc	p.S108N	RFWD2_ENST00000308769.8_Missense_Mutation_p.S108N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	108	Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTGCTGCCGCTGCCTAGGCT	0.677													False	0	True	1:176175792	0	T	176175792	C	T	176175792	3	4	88	1	0	0	0	0	1	0	0	0	13339	797	28	2	1952	2	RFWD2	1	176175792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	799989	176175792	73074829	1410	9122											
PAPPA2	60676	broad.mit.edu	37	chr1	176526268	176526268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttctctgggaggcgggaGcggctgctgctgcgtccaga	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176526268G>A	ENST00000367662.3	+	2	1974	c.810G>A	c.(808-810)gaG>gaA	p.E270E	PAPPA2_ENST00000367661.3_Silent_p.E270E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	270					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGGCGGGAGCGGCTGCTGC	0.572													False	0	False	1:176526268	0	A	176526268	G	A	176526268	2	1	88	1	0	0	0	0	0	0	0	1	11501	962	34	2		2	PAPPA2	1	176526268	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	350476	176526268	72724353	1411	9123											
PAPPA2	60676	broad.mit.edu	37	chr1	176738773	176738773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcacatgttcttctgggCactgggaccagaatgtgagc	12	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176738773C>T	ENST00000367662.3	+	16	5518	c.4354C>T	c.(4354-4356)Cac>Tac	p.H1452Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1452	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTTCTGGGCACTGGGACCA	0.473													False	0	True	1:176738773	0	T	176738773	C	T	176738773	3	4	88	1	0	0	0	0	1	0	0	0	11501	710	25	2	4465	2	PAPPA2	1	176738773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212505	176738773	72511848	1412	9124											
PAPPA2	60676	broad.mit.edu	37	chr1	176760572	176760572	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcccaccacccccctcAgagctgaattctgtggagta	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176760572A>G	ENST00000367662.3	+	19	6138	c.4974A>G	c.(4972-4974)tcA>tcG	p.S1658S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1658	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCCCCCTCAGAGCTGAATT	0.433													False	0	False	1:176760572	0	G	176760572	A	G	176760572	2	3	88	1	0	0	0	0	0	0	0	1	11501	175	7	4		4	PAPPA2	1	176760572	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21799	176760572	72490049	1413	9125											
PAPPA2	60676	broad.mit.edu	37	chr1	176769219	176769219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtgtgcactggccggcGtcaatggcacccagaccccg	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176769219G>A	ENST00000367662.3	+	21	6317	c.5153G>A	c.(5152-5154)cGt>cAt	p.R1718H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1718	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R1718H(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTGGCCGGCGTCAATGGCAC	0.493													False	0	False	1:176769219	0	A	176769219	G	A	176769219	3	1	88	1	0	0	0	0	1	0	0	0	11501	1145	40	1	5284	1	PAPPA2	1	176769219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8647	176769219	72481402	1414	9126											
ASTN1	460	broad.mit.edu	37	chr1	176857313	176857313	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagtccctgagcaccagaGagagctcatggtagcctcct	10	14	1	3	rs141185084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176857313G>T	ENST00000367654.3	-	18	3203	c.2992C>A	c.(2992-2994)Ctc>Atc	p.L998I	ASTN1_ENST00000367657.3_Missense_Mutation_p.L990I|ASTN1_ENST00000361833.2_Missense_Mutation_p.L990I|ASTN1_ENST00000424564.2_Missense_Mutation_p.L990I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCACCAGAGAGAGCTCATG	0.542													False	0	True	1:176857313	0	T	176857313	G	T	176857313	3	4	88	1	0	0	0	0	1	0	0	0	1068	942	33	3	944	3	ASTN1	1	176857313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88094	176857313	72393308	1415	9127											
ASTN1	460	broad.mit.edu	37	chr1	176863860	176863860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactccatgcggactccagcCgccatgtgcttggtgccgga	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176863860C>T	ENST00000367654.3	-	17	3013	c.2802G>A	c.(2800-2802)gcG>gcA	p.A934A	ASTN1_ENST00000367657.3_Silent_p.A926A|ASTN1_ENST00000361833.2_Silent_p.A926A|ASTN1_ENST00000424564.2_Silent_p.A926A	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGACTCCAGCCGCCATGTGCT	0.607													False	0	False	1:176863860	0	T	176863860	C	T	176863860	2	4	88	1	0	0	0	0	0	0	0	1	1068	639	23	1		1	ASTN1	1	176863860	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6547	176863860	72386761	1416	9128											
ASTN1	460	broad.mit.edu	37	chr1	176915202	176915202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccctctggacaggtctcCgtgatgagttggcaagagcg	13	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176915202C>T	ENST00000367654.3	-	13	2344	c.2133G>A	c.(2131-2133)acG>acA	p.T711T	ASTN1_ENST00000367657.3_Silent_p.T703T|ASTN1_ENST00000361833.2_Silent_p.T703T|ASTN1_ENST00000424564.2_Silent_p.T703T|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GACAGGTCTCCGTGATGAGTT	0.498													False	0	False	1:176915202	0	T	176915202	C	T	176915202	2	4	88	1	0	0	0	0	0	0	0	1	1068	639	23	1		1	ASTN1	1	176915202	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51342	176915202	72335419	1417	9129											
ASTN1	460	broad.mit.edu	37	chr1	176992602	176992602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgggcacagaggtccatgGcccagggtccgctggagttc	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992602G>A	ENST00000367654.3	-	7	1587	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	ASTN1_ENST00000367657.3_Missense_Mutation_p.A459V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A459V|ASTN1_ENST00000424564.2_Missense_Mutation_p.A459V|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1		EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGGTCCATGGCCCAGGGTCC	0.627													False	0	True	1:176992602	0	A	176992602	G	A	176992602	3	1	88	1	0	0	0	0	1	0	0	0	1068	1203	42	2	2580	2	ASTN1	1	176992602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77400	176992602	72258019	1418	9130											
ASTN1	460	broad.mit.edu	37	chr1	176992614	176992614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccatggcccagggtccgCtggagttctgctgagagaag	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992614C>T	ENST00000367654.3	-	7	1575	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N	ASTN1_ENST00000367657.3_Missense_Mutation_p.S455N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S455N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S455N|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGGGTCCGCTGGAGTTCTG	0.647													False	0	False	1:176992614	0	T	176992614	C	T	176992614	3	4	88	1	0	0	0	0	1	0	0	0	1068	797	28	2	2592	2	ASTN1	1	176992614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	176992614	72258007	1419	9131											
ASTN1	460	broad.mit.edu	37	chr1	176992704	176992704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagcaagatgaagcggCtccctgcagggtgagagaaa	13	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992704C>T	ENST00000367654.3	-	7	1485	c.1274G>A	c.(1273-1275)aGc>aAc	p.S425N	ASTN1_ENST00000367657.3_Missense_Mutation_p.S425N|ASTN1_ENST00000361833.2_Missense_Mutation_p.S425N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S425N|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATGAAGCGGCTCCCTGCAGG	0.557													False	0	False	1:176992704	0	T	176992704	C	T	176992704	3	4	88	1	0	0	0	0	1	0	0	0	1068	797	28	2	2682	2	ASTN1	1	176992704	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90	176992704	72257917	1420	9132											
ASTN1	460	broad.mit.edu	37	chr1	177000083	177000083	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagtgacagcttggcattgtCacttcctgtataaggaaaag	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177000083C>T	ENST00000367654.3	-	4	1082	c.871G>A	c.(871-873)Gac>Aac	p.D291N	ASTN1_ENST00000367657.3_Missense_Mutation_p.D291N|ASTN1_ENST00000361833.2_Missense_Mutation_p.D291N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D291N|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGGCATTGTCACTTCCTGTA	0.418													False	0	False	1:177000083	0	T	177000083	C	T	177000083	3	4	88	1	0	0	0	0	1	0	0	0	1068	826	29	2	3097	2	ASTN1	1	177000083	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7379	177000083	72250538	1421	9133											
ASTN1	460	broad.mit.edu	37	chr1	177030297	177030297	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcttgtccaggaaggcTtggggcaccatcttggtgat	16	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177030297T>G	ENST00000367654.3	-	2	599	c.388A>C	c.(388-390)Agc>Cgc	p.S130R	ASTN1_ENST00000367657.3_Missense_Mutation_p.S130R|ASTN1_ENST00000361833.2_Missense_Mutation_p.S130R|ASTN1_ENST00000424564.2_Missense_Mutation_p.S130R|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGGAAGGCTTGGGGCACCA	0.537													False	0	False	1:177030297	0	G	177030297	T	G	177030297	3	3	88	1	0	0	0	0	1	0	0	0	1068	1609	56	4	3588	4	ASTN1	1	177030297	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30214	177030297	72220324	1422	9134											
ASTN1	460	broad.mit.edu	37	chr1	177133624	177133624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgagaagaggagcttgggCtccgaggccgaggggctgtg	19	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177133624C>T	ENST00000367654.3	-	1	400	c.189G>A	c.(187-189)gaG>gaA	p.E63E	ASTN1_ENST00000367657.3_Silent_p.E63E|ASTN1_ENST00000361833.2_Silent_p.E63E|ASTN1_ENST00000424564.2_Silent_p.E63E|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGAGCTTGGGCTCCGAGGCCG	0.617													False	0	True	1:177133624	0	T	177133624	C	T	177133624	2	4	88	1	0	0	0	0	0	0	0	1	1068	796	28	2		2	ASTN1	1	177133624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103327	177133624	72116997	1423	9135											
SEC16B	89866	broad.mit.edu	37	chr1	177913771	177913771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttccgtcctctggattgcCtcagttgttgcaaatttcaa	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177913771C>T	ENST00000308284.6	-	15	1895	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	602					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCTGGATTGCCTCAGTTGTTG	0.473													False	0	False	1:177913771	0	T	177913771	C	T	177913771	2	4	88	1	0	0	0	0	0	0	0	1	14068	680	24	2		2	SEC16B	1	177913771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	780147	177913771	71336850	1424	9136											
SEC16B	89866	broad.mit.edu	37	chr1	177930826	177930826	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctgctggagctgagaccaGactcacgctgctggagaagg	15	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177930826G>A	ENST00000308284.6	-	6	775	c.686C>T	c.(685-687)tCt>tTt	p.S229F	SEC16B_ENST00000464631.2_Missense_Mutation_p.S229F|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	229					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCTGAGACCAGACTCACGCTG	0.512													False	0	False	1:177930826	0	A	177930826	G	A	177930826	3	1	88	1	0	0	0	0	1	0	0	0	14068	942	33	2	2580	2	SEC16B	1	177930826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17055	177930826	71319795	1425	9137											
RASAL2	9462	broad.mit.edu	37	chr1	178408655	178408655	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatcttggtagaggggaacCtgtatcagtgaaaccacttc	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178408655C>A	ENST00000448150.3	+	6	1537	c.719C>A	c.(718-720)cCt>cAt	p.P240H	RASAL2_ENST00000462775.1_Missense_Mutation_p.P110H|RASAL2_ENST00000367649.3_Missense_Mutation_p.P258H	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	110	C2.|Poly-Lys.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGAGGGGAACCTGTATCAGTG	0.433													False	0	False	1:178408655	0	A	178408655	C	A	178408655	3	1	88	1	0	0	0	0	1	0	0	0	13143	681	24	3	812	3	RASAL2	1	178408655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	477829	178408655	70841966	1426	9138											
RASAL2	9462	broad.mit.edu	37	chr1	178425861	178425861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattccttcctacaggcgacCgtggcaaaattggggcctct	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178425861C>T	ENST00000448150.3	+	13	3002	c.2184C>T	c.(2182-2184)acC>acT	p.T728T	RASAL2_ENST00000462775.1_Silent_p.T598T|RASAL2_ENST00000367649.3_Silent_p.T739T	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	598					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TACAGGCGACCGTGGCAAAAT	0.468													False	0	False	1:178425861	0	T	178425861	C	T	178425861	2	4	88	1	0	0	0	0	0	0	0	1	13143	639	23	1		1	RASAL2	1	178425861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17206	178425861	70824760	1427	9139											
RASAL2	9462	broad.mit.edu	37	chr1	178427268	178427268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagattccagtttggagaaCctaagcactgccagttccag	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178427268C>T	ENST00000448150.3	+	14	3626	c.2808C>T	c.(2806-2808)aaC>aaT	p.N936N	RASAL2_ENST00000462775.1_Silent_p.N806N|RASAL2_ENST00000367649.3_Silent_p.N947N	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	806					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTTTGGAGAACCTAAGCACTG	0.483													False	0	False	1:178427268	0	T	178427268	C	T	178427268	2	4	88	1	0	0	0	0	0	0	0	1	13143	506	18	2		2	RASAL2	1	178427268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1407	178427268	70823353	1428	9140											
RASAL2	9462	broad.mit.edu	37	chr1	178442279	178442279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgacccaagtgaaggagCggtacagcatgcaggtccgc	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178442279C>T	ENST00000448150.3	+	18	4533	c.3715C>T	c.(3715-3717)Cgg>Tgg	p.R1239W	RASAL2_ENST00000462775.1_Missense_Mutation_p.R1109W|RASAL2_ENST00000367649.3_Missense_Mutation_p.R1250W	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1109					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.R1250W(1)|p.R1239W(1)|p.R1109W(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGTGAAGGAGCGGTACAGCAT	0.537													False	0	False	1:178442279	0	T	178442279	C	T	178442279	3	4	88	1	0	0	0	0	1	0	0	0	13143	759	27	1	3856	1	RASAL2	1	178442279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15011	178442279	70808342	1429	9141											
RASAL2	9462	broad.mit.edu	37	chr1	178442331	178442331	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccaaccccaccaagcTttccatcacggagaatggtg	7	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178442331T>G	ENST00000448150.3	+	18	4585	c.3767T>G	c.(3766-3768)cTt>cGt	p.L1256R	RASAL2_ENST00000462775.1_Missense_Mutation_p.L1126R|RASAL2_ENST00000367649.3_Missense_Mutation_p.L1267R	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1126					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCACCAAGCTTTCCATCACG	0.537													False	0	True	1:178442331	0	G	178442331	T	G	178442331	3	3	88	1	0	0	0	0	1	0	0	0	13143	1609	56	4	3908	4	RASAL2	1	178442331	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52	178442331	70808290	1430	9142											
RALGPS2	55103	broad.mit.edu	37	chr1	178858792	178858792	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaggtagcagcgatggttCtgaactaagtgaagagacct	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178858792C>A	ENST00000367635.3	+	14	1546	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.S403Y	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	403					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGCGATGGTTCTGAACTAAGT	0.303													False	0	False	1:178858792	0	A	178858792	C	A	178858792	3	1	88	1	0	0	0	0	1	0	0	0	13097	913	32	3	1258	3	RALGPS2	1	178858792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	416461	178858792	70391829	1431	9143											
RALGPS2	55103	broad.mit.edu	37	chr1	178871296	178871296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggatggatggtgatgatggCtgatgaccctgaacatcctg	14	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178871296C>A	ENST00000367635.3	+	18	1918	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D	RALGPS2_ENST00000367634.2_Missense_Mutation_p.A501D	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	527	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTGATGATGGCTGATGACCCT	0.393													False	0	False	1:178871296	0	A	178871296	C	A	178871296	3	1	88	1	0	0	0	0	1	0	0	0	13097	797	28	3	1646	3	RALGPS2	1	178871296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12504	178871296	70379325	1432	9144											
FAM20B	9917	broad.mit.edu	37	chr1	179033100	179033100	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggaagtgctattactgcCgagaaacagaaccagcttgt	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179033100C>T	ENST00000263733.4	+	5	949	c.613C>T	c.(613-615)Cga>Tga	p.R205*		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	205						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CTATTACTGCCGAGAAACAGA	0.458													False	0	False	1:179033100	0	T	179033100	C	T	179033100	4	4	88	1	0	0	0	0	0	1	0	0	5574	644	23	1	627	1	FAM20B	1	179033100	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161804	179033100	70217521	1433	9145											
ABL2	27	broad.mit.edu	37	chr1	179078040	179078040	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctggaagccctgaggAcatggaagatgtagagtttg	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179078040A>T	ENST00000502732.1	-	12	2565	c.2362T>A	c.(2362-2364)Tcc>Acc	p.S788T	ABL2_ENST00000344730.3_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000408940.3_Missense_Mutation_p.S752T|ABL2_ENST00000367623.4_Missense_Mutation_p.S767T|ABL2_ENST00000512653.1_Missense_Mutation_p.S773T|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000504405.1_Intron	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	788	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGCCCTGAGGACATGGAAGAT	0.507			T	ETV6	AML								False	0	False	1:179078040	0	T	179078040	A	T	179078040	3	4	88	1	0	0	0	0	1	0	0	0	93	275	10	5	1190	5	ABL2	1	179078040	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44940	179078040	70172581	1434	9146											
ABL2	27	broad.mit.edu	37	chr1	179112077	179112077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgaaccatacctgttaagtCgggtagagcagattctgagg	12	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179112077C>T	ENST00000408940.3	-	1	102	c.103G>A	c.(103-105)Gac>Aac	p.D35N	ABL2_ENST00000344730.3_Missense_Mutation_p.D35N|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000502732.1_Intron|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000367623.4_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.D35N|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000504405.1_Missense_Mutation_p.D35N	NM_001168239.1	NP_001161711.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	0	CAP.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTGTTAAGTCGGGTAGAGCA	0.433			T	ETV6	AML								False	0	True	1:179112077	0	T	179112077	C	T	179112077	3	4	88	1	0	0	0	0	1	0	0	0	93	884	31	1	3493	1	ABL2	1	179112077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34037	179112077	70138544	1435	9147											
NPHS2	7827	broad.mit.edu	37	chr1	179533830	179533830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatggaatctcacctttaCgcagaaccagatggaaaaag	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179533830C>T	ENST00000367615.4	-	2	441	c.373G>A	c.(373-375)Gta>Ata	p.V125I	NPHS2_ENST00000367616.4_Missense_Mutation_p.V125I	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	125					excretion	integral to plasma membrane	protein binding	p.V125L(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTCACCTTTACGCAGAACCAG	0.478													False	0	False	1:179533830	0	T	179533830	C	T	179533830	3	4	88	1	0	0	0	0	1	0	0	0	10651	536	19	1	806	1	NPHS2	1	179533830	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	421753	179533830	69716791	1436	9148											
TDRD5	163589	broad.mit.edu	37	chr1	179564779	179564779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggtaaaatttttacccaGccatttagaatgaaacaagg	7	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179564779G>A	ENST00000444136.1	+	4	907	c.657G>A	c.(655-657)caG>caA	p.Q219Q	TDRD5_ENST00000367614.1_Silent_p.Q219Q|TDRD5_ENST00000294848.8_Silent_p.Q219Q	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	219	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTTTACCCAGCCATTTAGAA	0.393													False	0	False	1:179564779	0	A	179564779	G	A	179564779	2	1	88	1	0	0	0	0	0	0	0	1	15815	962	34	2		2	TDRD5	1	179564779	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30949	179564779	69685842	1437	9149											
TDRD5	163589	broad.mit.edu	37	chr1	179631409	179631410	+	In_Frame_Ins	INS	-	-	GACAAAGAAAAACTATCATTT													agtattcatcatgtaaagaaINSatgccacagaaggttagatc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179631409_179631410insGACAAAGAAAAACTATCATTT	ENST00000367614.1	+	14	2690_2691	c.2331_2332insGACAAAGAAAAACTATCATTT	c.(2332-2334)atg>GACAAAGAAAAACTATCATTTatg	p.777_778insDKEKLSF	TDRD5_ENST00000444136.1_In_Frame_Ins_p.831_832insDKEKLSF|TDRD5_ENST00000294848.8_In_Frame_Ins_p.777_778insDKEKLSF	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	777					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CATGTAAAGAAATGCCACAGAA	0.475													False	0	True	1:179631409	0	GACAAAGAAAAACTATCATTT	179631410	-	GACAAAGAAAAACTATCATTT	179631409	7	5	88	1	0	1	1	0	0	0	0	0	15815	11	1	0	2381	0	TDRD5	1	179631409	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	66630	179631409	69619212	1438	9150											
TDRD5	163589	broad.mit.edu	37	chr1	179638537	179638537	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgcagaaaagccctctggttCtggtatgtttgtgtgtactt	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179638537C>A	ENST00000444136.1	+	17	3108	c.2858C>A	c.(2857-2859)tCt>tAt	p.S953Y	TDRD5_ENST00000367614.1_Missense_Mutation_p.S899Y|TDRD5_ENST00000294848.8_Missense_Mutation_p.S899Y	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	899					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCCTCTGGTTCTGGTATGTTT	0.443													False	0	True	1:179638537	0	A	179638537	C	A	179638537	3	1	88	1	0	0	0	0	1	0	0	0	15815	913	32	3	2754	3	TDRD5	1	179638537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7128	179638537	69612084	1439	9151											
FAM163A	148753	broad.mit.edu	37	chr1	179782952	179782952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggaaccgaggttgcagaCgaggaggaggagcgggagca	20	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179782952C>T	ENST00000341785.4	+	5	528	c.132C>T	c.(130-132)gaC>gaT	p.D44D		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	44						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGGTTGCAGACGAGGAGGAGG	0.637													False	0	True	1:179782952	0	T	179782952	C	T	179782952	2	4	88	1	0	0	0	0	0	0	0	1	5512	535	19	1		1	FAM163A	1	179782952	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144415	179782952	69467669	1440	9152											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179820358	179820358	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctgcactttctggaccttCtgtctctacctcttggtggt	8	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179820358C>A	ENST00000367612.3	-	4	562	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	TOR1AIP2_ENST00000609928.1_Nonsense_Mutation_p.E59*	NM_145034.4	NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	59						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TCTGGACCTTCTGTCTCTACC	0.448													False	0	False	1:179820358	0	A	179820358	C	A	179820358	4	1	88	1	0	0	0	0	0	1	0	0	16456	922	32	3	1249	3	TOR1AIP2	1	179820358	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37406	179820358	69430263	1441	9153											
CEP350	9857	broad.mit.edu	37	chr1	179983348	179983348	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatccccctgttatttccaAaaggcgccactatgacacag	7	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179983348A>G	ENST00000367607.3	+	10	2178	c.1760A>G	c.(1759-1761)aAa>aGa	p.K587R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	587						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTATTTCCAAAAGGCGCCAC	0.443													False	0	True	1:179983348	0	G	179983348	A	G	179983348	3	3	88	1	0	0	0	0	1	0	0	0	3277	14	1	4	1794	4	CEP350	1	179983348	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	162990	179983348	69267273	1442	9154											
CEP350	9857	broad.mit.edu	37	chr1	180017679	180017679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccataaaaagaagtagcaGtggtagcagccgccaagaaa	10	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180017679G>A	ENST00000367607.3	+	22	5049	c.4631G>A	c.(4630-4632)aGt>aAt	p.S1544N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1544	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAAGTAGCAGTGGTAGCAGC	0.348													False	0	False	1:180017679	0	A	180017679	G	A	180017679	3	1	88	1	0	0	0	0	1	0	0	0	3277	1029	36	2	4713	2	CEP350	1	180017679	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34331	180017679	69232942	1443	9155											
CEP350	9857	broad.mit.edu	37	chr1	180022124	180022124	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactcaacgtctattgcaacAgaatattctctgaaatttga	6	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180022124A>G	ENST00000367607.3	+	23	5230	c.4812A>G	c.(4810-4812)acA>acG	p.T1604T		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1604						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTATTGCAACAGAATATTCTC	0.323													False	0	False	1:180022124	0	G	180022124	A	G	180022124	2	3	88	1	0	0	0	0	0	0	0	1	3277	175	7	4		4	CEP350	1	180022124	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4445	180022124	69228497	1444	9156											
QSOX1	5768	broad.mit.edu	37	chr1	180155237	180155237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcactgcactacatcctgCggatagaagtgggcaggttc	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180155237C>T	ENST00000367602.3	+	8	1011	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	QSOX1_ENST00000367600.5_Missense_Mutation_p.R313W			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	313					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	p.R313W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTACATCCTGCGGATAGAAGT	0.557													False	0	False	1:180155237	0	T	180155237	C	T	180155237	3	4	88	1	0	0	0	0	1	0	0	0	12962	759	27	1	967	1	QSOX1	1	180155237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133113	180155237	69095384	1445	9157											
XPR1	9213	broad.mit.edu	37	chr1	180772672	180772672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccatgaggaacgtgtccaAcatagaaatattaaagacct	7	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180772672A>C	ENST00000367590.4	+	4	570	c.372A>C	c.(370-372)caA>caC	p.Q124H	XPR1_ENST00000367589.3_Missense_Mutation_p.Q124H	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	124	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AACGTGTCCAACATAGAAATA	0.438													False	0	False	1:180772672	0	C	180772672	A	C	180772672	3	2	88	1	0	0	0	0	1	0	0	0	17535	40	2	4	386	4	XPR1	1	180772672	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	617435	180772672	68477949	1446	9158											
XPR1	9213	broad.mit.edu	37	chr1	180793991	180793991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctactgggcatcaacaCgtatggttggagacaggctg	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180793991C>T	ENST00000367590.4	+	8	1064	c.866C>T	c.(865-867)aCg>aTg	p.T289M	XPR1_ENST00000367589.3_Missense_Mutation_p.T289M	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	289						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GGCATCAACACGTATGGTTGG	0.388													False	0	False	1:180793991	0	T	180793991	C	T	180793991	3	4	88	1	0	0	0	0	1	0	0	0	17535	536	19	1	896	1	XPR1	1	180793991	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21319	180793991	68456630	1447	9159											
XPR1	9213	broad.mit.edu	37	chr1	180794394	180794394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatatgtgtatccacttGccctttatggatttatggtt	7	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180794394G>A	ENST00000367590.4	+	9	1246	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	XPR1_ENST00000367589.3_Missense_Mutation_p.A350T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	350						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GTATCCACTTGCCCTTTATGG	0.433													False	0	True	1:180794394	0	A	180794394	G	A	180794394	3	1	88	1	0	0	0	0	1	0	0	0	17535	1319	46	2	1082	2	XPR1	1	180794394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	403	180794394	68456227	1448	9160											
XPR1	9213	broad.mit.edu	37	chr1	180849411	180849411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccagagcatatccctgCgccggcctcgcctcgcttct	8	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180849411C>T	ENST00000367590.4	+	14	2206	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	XPR1_ENST00000367589.3_Missense_Mutation_p.R605C	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	670						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CATATCCCTGCGCCGGCCTCG	0.473													False	0	False	1:180849411	0	T	180849411	C	T	180849411	3	4	88	1	0	0	0	0	1	0	0	0	17535	768	27	1	2062	1	XPR1	1	180849411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55017	180849411	68401210	1449	9161											
KIAA1614	57710	broad.mit.edu	37	chr1	180886166	180886166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgcaggagatgctcaaCgtttctgggcagagcccccg	13	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180886166C>T	ENST00000367588.4	+	2	982	c.927C>T	c.(925-927)aaC>aaT	p.N309N		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	309										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGATGCTCAACGTTTCTGGGC	0.622													False	0	False	1:180886166	0	T	180886166	C	T	180886166	2	4	88	1	0	0	0	0	0	0	0	1	8298	535	19	1		1	KIAA1614	1	180886166	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36755	180886166	68364455	1450	9162											
KIAA1614	57710	broad.mit.edu	37	chr1	180904329	180904329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagaacgggcacacgagCgattcctccagcggagagtc	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180904329C>T	ENST00000367588.4	+	5	1339	c.1284C>T	c.(1282-1284)agC>agT	p.S428S	KIAA1614_ENST00000367587.1_Silent_p.S49S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	428										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGCACACGAGCGATTCCTCCA	0.677													False	0	False	1:180904329	0	T	180904329	C	T	180904329	2	4	88	1	0	0	0	0	0	0	0	1	8298	767	27	1		1	KIAA1614	1	180904329	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18163	180904329	68346292	1451	9163											
KIAA1614	57710	broad.mit.edu	37	chr1	180904637	180904637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggcaccgccggcaccggGcagcgagaggaggtgccagg	18	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180904637G>A	ENST00000367588.4	+	5	1647	c.1592G>A	c.(1591-1593)gGc>gAc	p.G531D	KIAA1614_ENST00000367587.1_Missense_Mutation_p.G152D	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	531										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCGGCACCGGGCAGCGAGAGG	0.756													False	0	True	1:180904637	0	A	180904637	G	A	180904637	3	1	88	1	0	0	0	0	1	0	0	0	8298	1203	42	2	1610	2	KIAA1614	1	180904637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308	180904637	68345984	1452	9164											
KIAA1614	57710	broad.mit.edu	37	chr1	180905169	180905169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttgagagaagatgccaaGcctcctgacctggagttgaa	11	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180905169G>T	ENST00000367588.4	+	5	2179	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K329N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	708										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AAGATGCCAAGCCTCCTGACC	0.572													False	0	False	1:180905169	0	T	180905169	G	T	180905169	3	4	88	1	0	0	0	0	1	0	0	0	8298	962	34	3	2142	3	KIAA1614	1	180905169	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	532	180905169	68345452	1453	9165											
MR1	3140	broad.mit.edu	37	chr1	181003204	181003204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttaatggtgaagcacagcGattcccgtgagtatcccacg	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181003204G>A	ENST00000367580.5	+	1	66	c.61G>A	c.(61-63)Gat>Aat	p.D21N	MR1_ENST00000434571.2_Missense_Mutation_p.D21N|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.D21N|MR1_ENST00000282990.6_Missense_Mutation_p.D21N	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	21					antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GAAGCACAGCGATTCCCGTGA	0.453													False	0	False	1:181003204	0	A	181003204	G	A	181003204	3	1	88	1	0	0	0	0	1	0	0	0	9819	1058	37	1	63	1	MR1	1	181003204	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98035	181003204	68247417	1454	9166											
MR1	3140	broad.mit.edu	37	chr1	181019366	181019366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattggctggaagaagaatGtattgcctggctaaagagat	13	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181019366G>A	ENST00000367580.5	+	3	553	c.548G>A	c.(547-549)tGt>tAt	p.C183Y	MR1_ENST00000434571.2_Missense_Mutation_p.C183Y|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.C138Y|MR1_ENST00000282990.6_Missense_Mutation_p.C183Y	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	183	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GAAGAAGAATGTATTGCCTGG	0.468													False	0	False	1:181019366	0	A	181019366	G	A	181019366	3	1	88	1	0	0	0	0	1	0	0	0	9819	1377	48	2	558	2	MR1	1	181019366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16162	181019366	68231255	1455	9167											
MR1	3140	broad.mit.edu	37	chr1	181021609	181021609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttactcctgtcatgtggaGcactgcggtgtccacatggt	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181021609G>A	ENST00000367580.5	+	4	848	c.843G>A	c.(841-843)gaG>gaA	p.E281E	MR1_ENST00000434571.2_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Silent_p.E236E|MR1_ENST00000282990.6_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	281	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GTCATGTGGAGCACTGCGGTG	0.547													False	0	False	1:181021609	0	A	181021609	G	A	181021609	2	1	88	1	0	0	0	0	0	0	0	1	9819	962	34	2		2	MR1	1	181021609	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2243	181021609	68229012	1456	9168											
CACNA1E	777	broad.mit.edu	37	chr1	181620541	181620541	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcatcattggatcctTctttgttctcaacctagtcc	4	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181620541T>A	ENST00000526775.1	+	7	1184	c.1019T>A	c.(1018-1020)tTc>tAc	p.F340Y	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F340Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F340Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F291Y|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F340Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	340					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTGGATCCTTCTTTGTTCTC	0.438													False	0	False	1:181620541	0	A	181620541	T	A	181620541	3	1	88	1	0	0	0	0	1	0	0	0	2562	1783	62	5	1045	5	CACNA1E	1	181620541	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	598932	181620541	67630080	1457	9169											
CACNA1E	777	broad.mit.edu	37	chr1	181687258	181687258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagatgtatggcatgggGcctcgcctttattttcactc	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181687258G>A	ENST00000526775.1	+	12	1758	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	CACNA1E_ENST00000367567.4_Silent_p.G138G|CACNA1E_ENST00000367573.2_Silent_p.G531G|CACNA1E_ENST00000360108.3_Silent_p.G531G|CACNA1E_ENST00000358338.5_Silent_p.G482G|CACNA1E_ENST00000357570.5_Silent_p.G482G|CACNA1E_ENST00000367570.1_Silent_p.G531G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	531					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGGCATGGGGCCTCGCCTTT	0.463													False	0	True	1:181687258	0	A	181687258	G	A	181687258	2	1	88	1	0	0	0	0	0	0	0	1	2562	1190	42	2		2	CACNA1E	1	181687258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66717	181687258	67563363	1458	9170											
CACNA1E	777	broad.mit.edu	37	chr1	181693609	181693609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaattcatcaccccagacaCgctactgaatgtgttcttgg	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181693609C>T	ENST00000526775.1	+	17	2243	c.2078C>T	c.(2077-2079)aCg>aTg	p.T693M	CACNA1E_ENST00000367567.4_Missense_Mutation_p.T300M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T693M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T693M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T644M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T693M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	693					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCCCAGACACGCTACTGAAT	0.463													False	0	False	1:181693609	0	T	181693609	C	T	181693609	3	4	88	1	0	0	0	0	1	0	0	0	2562	536	19	1	2144	1	CACNA1E	1	181693609	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6351	181693609	67557012	1459	9171											
CACNA1E	777	broad.mit.edu	37	chr1	181693628	181693628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctactgaatgtgttcttGgctatcgctgtggataatct	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181693628G>A	ENST00000526775.1	+	17	2262	c.2097G>A	c.(2095-2097)ttG>ttA	p.L699L	CACNA1E_ENST00000367567.4_Silent_p.L306L|CACNA1E_ENST00000367573.2_Silent_p.L699L|CACNA1E_ENST00000360108.3_Silent_p.L699L|CACNA1E_ENST00000358338.5_Silent_p.L650L|CACNA1E_ENST00000357570.5_Silent_p.L650L|CACNA1E_ENST00000367570.1_Silent_p.L699L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	699					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGTGTTCTTGGCTATCGCTG	0.463													False	0	False	1:181693628	0	A	181693628	G	A	181693628	2	1	88	1	0	0	0	0	0	0	0	1	2562	1339	47	2		2	CACNA1E	1	181693628	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	181693628	67556993	1460	9172											
CACNA1E	777	broad.mit.edu	37	chr1	181701981	181701981	+	Missense_Mutation	SNP	G	G	A													gcacaggcagagccaacggcGcagccggcatcgccgcgtca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181701981G>A	ENST00000526775.1	+	19	2867	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R527H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R920H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R901H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R852H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R871H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R920H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	920					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCCAACGGCGCAGCCGGCAT	0.652													False	0	False	1:181701981	0	A	181701981	G	A	181701981	3	1	88	1	0	0	0	0	1	0	0	0	2562	1087	38	1	2837	1	CACNA1E	1	181701981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8353	181701981	67548640	1461	9173	148	2									
CACNA1E	777	broad.mit.edu	37	chr1	181701985	181701985	+	Silent	SNP	C	C	T													aggcagagccaacggcgcagCcggcatcgccgcgtcaggac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181701985C>T	ENST00000526775.1	+	19	2871	c.2706C>T	c.(2704-2706)agC>agT	p.S902S	CACNA1E_ENST00000367567.4_Silent_p.S528S|CACNA1E_ENST00000367573.2_Silent_p.S921S|CACNA1E_ENST00000360108.3_Silent_p.S902S|CACNA1E_ENST00000358338.5_Silent_p.S853S|CACNA1E_ENST00000357570.5_Silent_p.S872S|CACNA1E_ENST00000367570.1_Silent_p.S921S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	921					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AACGGCGCAGCCGGCATCGCC	0.647													False	0	False	1:181701985	0	T	181701985	C	T	181701985	2	4	88	1	0	0	0	0	0	0	0	1	2562	738	26	2		2	CACNA1E	1	181701985	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4	181701985	67548636	1462	9174	148	2									
CACNA1E	777	broad.mit.edu	37	chr1	181702155	181702155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacgatccaagaagagagagCccaggatttaaggaggtgag	14	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181702155C>A	ENST00000526775.1	+	19	3041	c.2876C>A	c.(2875-2877)gCc>gAc	p.A959D	CACNA1E_ENST00000367567.4_Missense_Mutation_p.A585D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A978D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A959D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A910D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A929D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A978D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	978					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A978D(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGAGAGAGCCCAGGATTTA	0.542													False	0	True	1:181702155	0	A	181702155	C	A	181702155	3	1	88	1	0	0	0	0	1	0	0	0	2562	739	26	3	3011	3	CACNA1E	1	181702155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170	181702155	67548466	1463	9175											
CACNA1E	777	broad.mit.edu	37	chr1	181732641	181732641	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctataccatacgcattttgCtgtggacctttgtgcagtcc	9	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181732641C>A	ENST00000526775.1	+	33	4897	c.4732C>A	c.(4732-4734)Ctg>Atg	p.L1578M	CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1204M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L1597M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1578M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1529M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1548M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1597M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1597					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACGCATTTTGCTGTGGACCTT	0.498													False	0	False	1:181732641	0	A	181732641	C	A	181732641	3	1	88	1	0	0	0	0	1	0	0	0	2562	796	28	3	4923	3	CACNA1E	1	181732641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30486	181732641	67517980	1464	9176											
CACNA1E	777	broad.mit.edu	37	chr1	181741352	181741352	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tactttgtctccttcatcttCttctgctccttcttggtgag	6	12	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181741352C>T	ENST00000526775.1	+	36	5232	c.5067C>T	c.(5065-5067)ttC>ttT	p.F1689F	CACNA1E_ENST00000367567.4_Silent_p.F1315F|CACNA1E_ENST00000367573.2_Silent_p.F1708F|CACNA1E_ENST00000360108.3_Silent_p.F1689F|CACNA1E_ENST00000358338.5_Silent_p.F1640F|CACNA1E_ENST00000357570.5_Silent_p.F1659F|CACNA1E_ENST00000367570.1_Silent_p.F1708F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1708					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTTCATCTTCTTCTGCTCCT	0.537													False	0	True	1:181741352	0	T	181741352	C	T	181741352	2	4	88	1	0	0	0	0	0	0	0	1	2562	912	32	2		2	CACNA1E	1	181741352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8711	181741352	67509269	1465	9177											
CACNA1E	777	broad.mit.edu	37	chr1	181762906	181762906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagggcatcttctatgCcacgtctgactgtggatccc	12	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181762906C>T	ENST00000357570.5	+	45	6169	c.5857C>T	c.(5857-5859)Cca>Tca	p.P1953S	CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P2002S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1983S|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000526775.1_Intron			Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2002					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATCTTCTATGCCACGTCTGAC	0.483													False	0	False	1:181762906	0	T	181762906	C	T	181762906	3	4	88	1	0	0	0	0	1	0	0	0	2562	754	26	2		2	CACNA1E	1	181762906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21554	181762906	67487715	1466	9178											
CACNA1E	777	broad.mit.edu	37	chr1	181767892	181767892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactatcggcggcggaggcgCggggggcctgggccaggcat	20	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181767892C>T	ENST00000526775.1	+	46	6843	c.6678C>T	c.(6676-6678)cgC>cgT	p.R2226R	CACNA1E_ENST00000367567.4_Silent_p.R1852R|CACNA1E_ENST00000367573.2_Silent_p.R2288R|CACNA1E_ENST00000360108.3_Silent_p.R2269R|CACNA1E_ENST00000358338.5_Silent_p.R2177R|CACNA1E_ENST00000357570.5_Silent_p.R2239R|CACNA1E_ENST00000367570.1_Silent_p.R2245R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2288					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCGGAGGCGCGGGGGGCCTG	0.647													False	0	True	1:181767892	0	T	181767892	C	T	181767892	2	4	88	1	0	0	0	0	0	0	0	1	2562	755	27	1		1	CACNA1E	1	181767892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4986	181767892	67482729	1467	9179											
ZNF648	127665	broad.mit.edu	37	chr1	182026331	182026331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcttggcggcgccgccgCgcgtctccgcggggctcagc	17	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182026331C>T	ENST00000339948.3	-	2	1022	c.815G>A	c.(814-816)cGc>cAc	p.R272H		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGCGCCGCCGCGCGTCTCCGC	0.751													False	0	True	1:182026331	0	T	182026331	C	T	182026331	3	4	88	1	0	0	0	0	1	0	0	0	18146	768	27	1	895	1	ZNF648	1	182026331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	258439	182026331	67224290	1468	9180											
ZNF648	127665	broad.mit.edu	37	chr1	182026618	182026618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgtctacacttttgtgCgcacagagatactttccatt	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182026618C>T	ENST00000339948.3	-	2	735	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CACTTTTGTGCGCACAGAGAT	0.567													False	0	False	1:182026618	0	T	182026618	C	T	182026618	2	4	88	1	0	0	0	0	0	0	0	1	18146	755	27	1		1	ZNF648	1	182026618	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287	182026618	67224003	1469	9181											
RNASEL	6041	broad.mit.edu	37	chr1	182555156	182555156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcattaatctctatgtgCtcttgctccagaagcctctg	8	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182555156C>A	ENST00000367559.3	-	2	1039	c.786G>T	c.(784-786)gaG>gaT	p.E262D	RNASEL_ENST00000539397.1_Missense_Mutation_p.E262D|RNASEL_ENST00000444138.1_Missense_Mutation_p.E262D	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	262	2-5A binding (P-loop) 2.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCTCTATGTGCTCTTGCTCCA	0.502													False	0	False	1:182555156	0	A	182555156	C	A	182555156	3	1	88	1	0	0	0	0	1	0	0	0	13495	796	28	3	1463	3	RNASEL	1	182555156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	528538	182555156	66695465	1470	9182											
RGS8	85397	broad.mit.edu	37	chr1	182635136	182635136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcacatcaaaggaatctGcccacctcgtagcttcttct	7	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182635136G>A	ENST00000483095.2	-	5	418	c.161C>T	c.(160-162)gCa>gTa	p.A54V	RGS8_ENST00000367557.4_Missense_Mutation_p.A54V|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000258302.4_Missense_Mutation_p.A72V|RGS8_ENST00000367556.1_Missense_Mutation_p.A54V			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	54					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AAAGGAATCTGCCCACCTCGT	0.408													False	0	True	1:182635136	0	A	182635136	G	A	182635136	3	1	88	1	0	0	0	0	1	0	0	0	13391	1319	46	2	393	2	RGS8	1	182635136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79980	182635136	66615485	1471	9183											
DHX9	1660	broad.mit.edu	37	chr1	182844012	182844012	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attttctggaagactgcattCagatgacccactttgttcct	7	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182844012C>T	ENST00000367549.3	+	16	1848	c.1738C>T	c.(1738-1740)Cag>Tag	p.Q580*		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	580					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGACTGCATTCAGATGACCCA	0.383													False	0	False	1:182844012	0	T	182844012	C	T	182844012	4	4	88	1	0	0	0	0	0	1	0	0	4546	827	29	2	1796	2	DHX9	1	182844012	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208876	182844012	66406609	1472	9184											
DHX9	1660	broad.mit.edu	37	chr1	182846018	182846018	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attaccataaacgatgttgtTtatgtcattgactcctgcaa	6	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182846018T>G	ENST00000367549.3	+	19	2288	c.2178T>G	c.(2176-2178)gtT>gtG	p.V726V		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	726	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACGATGTTGTTTATGTCATTG	0.333													False	0	True	1:182846018	0	G	182846018	T	G	182846018	2	3	88	1	0	0	0	0	0	0	0	1	4546	1828	64	4		4	DHX9	1	182846018	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2006	182846018	66404603	1473	9185											
DHX9	1660	broad.mit.edu	37	chr1	182847247	182847247	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgagcaacggaaagggCgagctggccgagtacggcct	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182847247C>T	ENST00000367549.3	+	20	2400	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	764	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACGGAAAGGGCGAGCTGGCCG	0.473													False	0	True	1:182847247	0	T	182847247	C	T	182847247	4	4	88	1	0	0	0	0	0	1	0	0	4546	760	27	1	2364	1	DHX9	1	182847247	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1229	182847247	66403374	1474	9186											
DHX9	1660	broad.mit.edu	37	chr1	182850546	182850546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttatcagtattccaagcCtgggatgatgctaggtatga	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182850546C>T	ENST00000367549.3	+	23	2882	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	924					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TATTCCAAGCCTGGGATGATG	0.403													False	0	False	1:182850546	0	T	182850546	C	T	182850546	2	4	88	1	0	0	0	0	0	0	0	1	4546	668	24	2		2	DHX9	1	182850546	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3299	182850546	66400075	1475	9187											
DHX9	1660	broad.mit.edu	37	chr1	182852411	182852411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattctcaccactgaagggCgtaatgcacttatccacaaa	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182852411C>T	ENST00000367549.3	+	25	3162	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1018					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CACTGAAGGGCGTAATGCACT	0.393													False	0	True	1:182852411	0	T	182852411	C	T	182852411	3	4	88	1	0	0	0	0	1	0	0	0	4546	768	27	1	3146	1	DHX9	1	182852411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1865	182852411	66398210	1476	9188											
LAMC1	3915	broad.mit.edu	37	chr1	183093910	183093910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcgcttgacgggagaatGcctgaagtgcatctataaca	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183093910G>A	ENST00000258341.4	+	14	2803	c.2546G>A	c.(2545-2547)tGc>tAc	p.C849Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	849	Laminin EGF-like 8.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGGGAGAATGCCTGAAGTGC	0.502													False	0	False	1:183093910	0	A	183093910	G	A	183093910	3	1	88	1	0	0	0	0	1	0	0	0	8665	1319	46	2	2600	2	LAMC1	1	183093910	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241499	183093910	66156711	1477	9189											
LAMC1	3915	broad.mit.edu	37	chr1	183103869	183103869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaaattaaaagattatgaGgacctcagagaagatatgag	10	4	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183103869G>T	ENST00000258341.4	+	23	4181	c.3924G>T	c.(3922-3924)gaG>gaT	p.E1308D		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1308	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGATTATGAGGACCTCAGAG	0.403													False	0	False	1:183103869	0	T	183103869	G	T	183103869	3	4	88	1	0	0	0	0	1	0	0	0	8665	991	35	3	4014	3	LAMC1	1	183103869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9959	183103869	66146752	1478	9190											
LAMC2	3918	broad.mit.edu	37	chr1	183194779	183194779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaataattggagcccccaGctgagttactttgagtatcg	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183194779G>T	ENST00000264144.4	+	8	1055	c.990G>T	c.(988-990)caG>caT	p.Q330H	LAMC2_ENST00000493293.1_Missense_Mutation_p.Q330H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	330	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GGAGCCCCCAGCTGAGTTACT	0.393													False	0	False	1:183194779	0	T	183194779	G	T	183194779	3	4	88	1	0	0	0	0	1	0	0	0	8666	962	34	3	1020	3	LAMC2	1	183194779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90910	183194779	66055842	1479	9191											
LAMC2	3918	broad.mit.edu	37	chr1	183200178	183200178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagccaggatttggtggCcccaactgtgagcatggagc	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183200178C>T	ENST00000264144.4	+	12	1862	c.1797C>T	c.(1795-1797)ggC>ggT	p.G599G	LAMC2_ENST00000493293.1_Silent_p.G599G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	599	Laminin EGF-like 8; truncated.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GATTTGGTGGCCCCAACTGTG	0.498													False	0	True	1:183200178	0	T	183200178	C	T	183200178	2	4	88	1	0	0	0	0	0	0	0	1	8666	726	26	2		2	LAMC2	1	183200178	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5399	183200178	66050443	1480	9192											
LAMC2	3918	broad.mit.edu	37	chr1	183212466	183212466	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggattctggctgatgtgaaGaacttggagaacattaggga	15	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183212466G>A	ENST00000264144.4	+	23	3578	c.3513G>A	c.(3511-3513)aaG>aaA	p.K1171K		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1171	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTGATGTGAAGAACTTGGAGA	0.522													False	0	False	1:183212466	0	A	183212466	G	A	183212466	2	1	88	1	0	0	0	0	0	0	0	1	8666	933	33	2		2	LAMC2	1	183212466	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12288	183212466	66038155	1481	9193											
SMG7	9887	broad.mit.edu	37	chr1	183513549	183513549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagaaaaacacctgtaaCtcaaaccccaactcaagcaa	4	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183513549C>T	ENST00000367537.3	+	16	2048	c.1853C>T	c.(1852-1854)aCt>aTt	p.T618I	SMG7_ENST00000347615.2_Missense_Mutation_p.T635I|SMG7_ENST00000508461.1_Missense_Mutation_p.T593I|SMG7_ENST00000507469.1_Missense_Mutation_p.T589I|SMG7_ENST00000515829.2_Missense_Mutation_p.T589I|SMG7_ENST00000456731.2_Missense_Mutation_p.T547I			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	635					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACACCTGTAACTCAAACCCCA	0.423													False	0	False	1:183513549	0	T	183513549	C	T	183513549	3	4	88	1	0	0	0	0	1	0	0	0	14878	565	20	2	1962	2	SMG7	1	183513549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	301083	183513549	65737072	1482	9194											
NCF2	4688	broad.mit.edu	37	chr1	183532664	183532664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgagtcttcatgactacCgtgtacttgtagtgcacctt	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183532664C>T	ENST00000413720.1	-	11	1222	c.948G>A	c.(946-948)acG>acA	p.T316T	NCF2_ENST00000418089.1_Silent_p.T280T|NCF2_ENST00000367535.3_Silent_p.T361T|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000367536.1_Silent_p.T361T	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	361					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TCATGACTACCGTGTACTTGT	0.552													False	0	False	1:183532664	0	T	183532664	C	T	183532664	2	4	88	1	0	0	0	0	0	0	0	1	10285	639	23	1		1	NCF2	1	183532664	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19115	183532664	65717957	1483	9195											
NCF2	4688	broad.mit.edu	37	chr1	183546760	183546760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaacagcttgaactggaGccccaggatcttatagtcta	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183546760G>T	ENST00000413720.1	-	3	614	c.340C>A	c.(340-342)Ctc>Atc	p.L114I	NCF2_ENST00000418089.1_Missense_Mutation_p.L114I|NCF2_ENST00000367535.3_Missense_Mutation_p.L114I|NCF2_ENST00000367536.1_Missense_Mutation_p.L114I	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	114					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TTGAACTGGAGCCCCAGGATC	0.517													False	0	True	1:183546760	0	T	183546760	G	T	183546760	3	4	88	1	0	0	0	0	1	0	0	0	10285	971	34	3	1292	3	NCF2	1	183546760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14096	183546760	65703861	1484	9196											
ARPC5	10092	broad.mit.edu	37	chr1	183604754	183604754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatattcatccacgtccAccttccggaagcgggccgac	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183604754A>G	ENST00000359856.6	-	1	107	c.41T>C	c.(40-42)gTg>gCg	p.V14A	ARPC5_ENST00000294742.6_Missense_Mutation_p.V14A|ARPC5_ENST00000367534.1_Missense_Mutation_p.V14A	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	14					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton			cervix(1)|large_intestine(1)|lung(2)	4						ATCCACGTCCACCTTCCGGAA	0.632													False	0	False	1:183604754	0	G	183604754	A	G	183604754	3	3	88	1	0	0	0	0	1	0	0	0	978	159	6	4	430	4	ARPC5	1	183604754	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57994	183604754	65645867	1485	9197											
RGL1	23179	broad.mit.edu	37	chr1	183816811	183816811	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggagaacctgctgacaGcttttggggacaatgacttt	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183816811G>T	ENST00000304685.4	+	4	804	c.355G>T	c.(355-357)Gct>Tct	p.A119S	RGL1_ENST00000539189.1_Missense_Mutation_p.A84S|RGL1_ENST00000536277.1_Missense_Mutation_p.A82S|RGL1_ENST00000360851.3_Missense_Mutation_p.A84S	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1		N-terminal Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCTGCTGACAGCTTTTGGGGA	0.473													False	0	False	1:183816811	0	T	183816811	G	T	183816811	3	4	88	1	0	0	0	0	1	0	0	0	13355	971	34	3	365	3	RGL1	1	183816811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212057	183816811	65433810	1486	9198											
RGL1	23179	broad.mit.edu	37	chr1	183874037	183874037	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgcctgcaacagctaTtgcatgaccccagaccaaaa	7	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183874037T>G	ENST00000304685.4	+	14	1958	c.1509T>G	c.(1507-1509)taT>taG	p.Y503*	RGL1_ENST00000539189.1_Nonsense_Mutation_p.Y439*|RGL1_ENST00000536277.1_Nonsense_Mutation_p.Y466*|RGL1_ENST00000360851.3_Nonsense_Mutation_p.Y468*	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1						cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCAACAGCTATTGCATGACCC	0.448													False	0	False	1:183874037	0	G	183874037	T	G	183874037	4	3	88	1	0	0	0	0	0	1	0	0	13355	1500	52	4	1559	4	RGL1	1	183874037	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57226	183874037	65376584	1487	9199											
FAM129A	116496	broad.mit.edu	37	chr1	184859344	184859344	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgacatttaggagcagctcCtctctgataggcctggggag	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:184859344C>A	ENST00000367511.3	-	4	524	c.331G>T	c.(331-333)Gga>Tga	p.G111*		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	111					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGAGCAGCTCCTCTCTGATAG	0.433													False	0	True	1:184859344	0	A	184859344	C	A	184859344	4	1	88	1	0	0	0	0	0	1	0	0	5472	690	24	3	2499	3	FAM129A	1	184859344	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	985307	184859344	64391277	1488	9200											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185278210	185278210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaatttaacgtgagaaattCcatgaggatcactatcacta	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185278210C>T	ENST00000367498.3	-	4	828	c.206G>A	c.(205-207)gGa>gAa	p.G69E	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.G69E	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	69	BTB.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GTGAGAAATTCCATGAGGATC	0.378													False	0	False	1:185278210	0	T	185278210	C	T	185278210	3	4	88	1	0	0	0	0	1	0	0	0	7980	855	30	2	1770	2	IVNS1ABP	1	185278210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418866	185278210	63972411	1489	9201											
HMCN1	83872	broad.mit.edu	37	chr1	185894259	185894259	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttccctgctctgttgacagtCttttgccctttaccttgagc	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185894259C>A	ENST00000271588.4	+	9	1595	c.1366C>A	c.(1366-1368)Ctt>Att	p.L456I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L456I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	456	Ig-like C2-type 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTGACAGTCTTTTGCCCTT	0.423													False	0	True	1:185894259	0	A	185894259	C	A	185894259	3	1	88	1	0	0	0	0	1	0	0	0	7267	913	32	3	1400	3	HMCN1	1	185894259	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	616049	185894259	63356362	1490	9202											
HMCN1	83872	broad.mit.edu	37	chr1	185969264	185969264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctatcttggaagatggcaCattgctggttattgcttctg	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185969264C>T	ENST00000271588.4	+	26	4191	c.3962C>T	c.(3961-3963)aCa>aTa	p.T1321I	HMCN1_ENST00000367492.2_Missense_Mutation_p.T1321I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1321	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGATGGCACATTGCTGGTT	0.418													False	0	False	1:185969264	0	T	185969264	C	T	185969264	3	4	88	1	0	0	0	0	1	0	0	0	7267	478	17	2	4064	2	HMCN1	1	185969264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75005	185969264	63281357	1491	9203											
HMCN1	83872	broad.mit.edu	37	chr1	185992272	185992272	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaacacaacagcacattcaActgcatgttcatggtaatgt	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185992272A>G	ENST00000271588.4	+	36	5965	c.5736A>G	c.(5734-5736)caA>caG	p.Q1912Q	HMCN1_ENST00000367492.2_Silent_p.Q1912Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1912	Ig-like C2-type 16.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCACATTCAACTGCATGTTC	0.373													False	0	False	1:185992272	0	G	185992272	A	G	185992272	2	3	88	1	0	0	0	0	0	0	0	1	7267	40	2	4		4	HMCN1	1	185992272	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23008	185992272	63258349	1492	9204											
HMCN1	83872	broad.mit.edu	37	chr1	186022185	186022185	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtggtattccacccccaAatctcatctggaagaagaaa	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186022185A>C	ENST00000271588.4	+	43	6908	c.6679A>C	c.(6679-6681)Aat>Cat	p.N2227H	HMCN1_ENST00000367492.2_Missense_Mutation_p.N2227H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2227	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCACCCCCAAATCTCATCTG	0.338													False	0	True	1:186022185	0	C	186022185	A	C	186022185	3	2	88	1	0	0	0	0	1	0	0	0	7267	14	1	4	6849	4	HMCN1	1	186022185	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29913	186022185	63228436	1493	9205											
HMCN1	83872	broad.mit.edu	37	chr1	186024739	186024739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatgtatctgacacaggCcgttatgtgtgtgttgctgt	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186024739C>T	ENST00000271588.4	+	45	7306	c.7077C>T	c.(7075-7077)ggC>ggT	p.G2359G	HMCN1_ENST00000367492.2_Silent_p.G2359G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2359	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGACACAGGCCGTTATGTGT	0.428													False	0	False	1:186024739	0	T	186024739	C	T	186024739	2	4	88	1	0	0	0	0	0	0	0	1	7267	726	26	2		2	HMCN1	1	186024739	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2554	186024739	63225882	1494	9206											
HMCN1	83872	broad.mit.edu	37	chr1	186034555	186034555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagcttcagtcttaatGtatttggtaggtgtgggctt	14	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186034555G>A	ENST00000271588.4	+	49	7928	c.7699G>A	c.(7699-7701)Gta>Ata	p.V2567I	HMCN1_ENST00000367492.2_Missense_Mutation_p.V2567I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2567					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTCTTAATGTATTTGGTAG	0.398													False	0	False	1:186034555	0	A	186034555	G	A	186034555	3	1	88	1	0	0	0	0	1	0	0	0	7267	1377	48	2	7893	2	HMCN1	1	186034555	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9816	186034555	63216066	1495	9207											
HMCN1	83872	broad.mit.edu	37	chr1	186039890	186039890	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtacaaggatggacagGccagtcacaacttttttcat	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186039890G>A	ENST00000271588.4	+	52	8368		c.e52+1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGATGGACAGGCCAGTCACAA	0.378													False	0	False	1:186039890	0	A	186039890	G	A	186039890	5	1	88	1	0	0	0	0	0	0	1	0	7267	1217	42	2	8346	2	HMCN1	1	186039890	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5335	186039890	63210731	1496	9208											
HMCN1	83872	broad.mit.edu	37	chr1	186052023	186052023	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatactcaaataacagatatCggcaggtatgtgtgtgttgc	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186052023C>T	ENST00000271588.4	+	57	9043	c.8814C>T	c.(8812-8814)atC>atT	p.I2938I	HMCN1_ENST00000367492.2_Silent_p.I2938I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2938	Ig-like C2-type 27.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAACAGATATCGGCAGGTATG	0.328													False	0	False	1:186052023	0	T	186052023	C	T	186052023	2	4	88	1	0	0	0	0	0	0	0	1	7267	874	31	1		1	HMCN1	1	186052023	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12133	186052023	63198598	1497	9209											
HMCN1	83872	broad.mit.edu	37	chr1	186057863	186057863	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatggagggaaaagcccagAaatattactttctttcaatt	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186057863A>C	ENST00000271588.4	+	63	9932	c.9703A>C	c.(9703-9705)Aaa>Caa	p.K3235Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.K3235Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3235	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAAAGCCCAGAAATATTACTT	0.328													False	0	True	1:186057863	0	C	186057863	A	C	186057863	3	2	88	1	0	0	0	0	1	0	0	0	7267	247	9	4	9953	4	HMCN1	1	186057863	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5840	186057863	63192758	1498	9210											
HMCN1	83872	broad.mit.edu	37	chr1	186088957	186088957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattaccatgtgaagcaacaGggacacccagtcctttcatt	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186088957G>A	ENST00000271588.4	+	79	12266	c.12037G>A	c.(12037-12039)Ggg>Agg	p.G4013R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4013R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4013	Ig-like C2-type 39.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAGCAACAGGGACACCCAG	0.393													False	0	True	1:186088957	0	A	186088957	G	A	186088957	3	1	88	1	0	0	0	0	1	0	0	0	7267	1000	35	2	12351	2	HMCN1	1	186088957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31094	186088957	63161664	1499	9211											
HMCN1	83872	broad.mit.edu	37	chr1	186097274	186097274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaagatacacacactgTcagcctgactgtgcatgttc	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186097274T>C	ENST00000271588.4	+	83	12984	c.12755T>C	c.(12754-12756)gTc>gCc	p.V4252A	HMCN1_ENST00000367492.2_Missense_Mutation_p.V4252A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4252	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACACACACTGTCAGCCTGACT	0.388													False	0	False	1:186097274	0	C	186097274	T	C	186097274	3	2	88	1	0	0	0	0	1	0	0	0	7267	1667	58	4	13085	4	HMCN1	1	186097274	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8317	186097274	63153347	1500	9212											
HMCN1	83872	broad.mit.edu	37	chr1	186113795	186113795	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggaaatgcgaagggagTgatgtccagagtgatttttg	16	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186113795T>G	ENST00000271588.4	+	91	14455	c.14226T>G	c.(14224-14226)agT>agG	p.S4742R	HMCN1_ENST00000367492.2_Missense_Mutation_p.S4742R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4742	TSP type-1 4.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCGAAGGGAGTGATGTCCAGA	0.478													False	0	False	1:186113795	0	G	186113795	T	G	186113795	3	3	88	1	0	0	0	0	1	0	0	0	7267	1693	59	4	14588	4	HMCN1	1	186113795	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16521	186113795	63136826	1501	9213											
PRG4	10216	broad.mit.edu	37	chr1	186273347	186273347	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacccaaaccaccaaacaagAagaagactaagaaagttata	5	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186273347A>C	ENST00000445192.2	+	5	472	c.427A>C	c.(427-429)Aag>Cag	p.K143Q	PRG4_ENST00000367483.4_Missense_Mutation_p.K102Q|PRG4_ENST00000367486.3_Missense_Mutation_p.K143Q|PRG4_ENST00000367484.3_Missense_Mutation_p.K102Q|PRG4_ENST00000367485.4_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	143					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCAAACAAGAAGAAGACTAA	0.398													False	0	True	1:186273347	0	C	186273347	A	C	186273347	3	2	88	1	0	0	0	0	1	0	0	0	12557	247	9	4	441	4	PRG4	1	186273347	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	159552	186273347	62977274	1502	9214											
PRG4	10216	broad.mit.edu	37	chr1	186277192	186277192	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccaactacccctaaggggActgctccaactaccctcaag	6	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186277192A>C	ENST00000445192.2	+	7	2386	c.2341A>C	c.(2341-2343)Act>Cct	p.T781P	PRG4_ENST00000367483.4_Missense_Mutation_p.T740P|PRG4_ENST00000367486.3_Missense_Mutation_p.T738P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T688P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	781	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCTAAGGGGACTGCTCCAAC	0.607													False	0	True	1:186277192	0	C	186277192	A	C	186277192	3	2	88	1	0	0	0	0	1	0	0	0	12557	275	10	4	2363	4	PRG4	1	186277192	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3845	186277192	62973429	1503	9215											
PRG4	10216	broad.mit.edu	37	chr1	186277618	186277618	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagacaagacaacagaaagaGacttacgtactacacctgaa	7	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186277618G>A	ENST00000445192.2	+	7	2812	c.2767G>A	c.(2767-2769)Gac>Aac	p.D923N	PRG4_ENST00000367483.4_Missense_Mutation_p.D882N|PRG4_ENST00000367486.3_Missense_Mutation_p.D880N|PRG4_ENST00000367484.3_Missense_Mutation_p.D452N|PRG4_ENST00000367485.4_Missense_Mutation_p.D830N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	923					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AACAGAAAGAGACTTACGTAC	0.413													False	0	False	1:186277618	0	A	186277618	G	A	186277618	3	1	88	1	0	0	0	0	1	0	0	0	12557	942	33	2	2789	2	PRG4	1	186277618	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	426	186277618	62973003	1504	9216											
TPR	7175	broad.mit.edu	37	chr1	186307228	186307228	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtccaattttcttaacTtgagtaatagttttgacttt	5	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186307228T>C	ENST00000367478.4	-	31	4595	c.4299A>G	c.(4297-4299)caA>caG	p.Q1433Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTTCTTAACTTGAGTAATAG	0.303			T	NTRK1	papillary thyroid								False	0	False	1:186307228	0	C	186307228	T	C	186307228	2	2	88	1	0	0	0	0	0	0	0	1	16499	1606	56	4		4	TPR	1	186307228	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29610	186307228	62943393	1505	9217											
TPR	7175	broad.mit.edu	37	chr1	186319457	186319457	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgagcattttttaatagttCttttgtgttaagatgaagat	8	2	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186319457C>A	ENST00000367478.4	-	21	2970	c.2674G>T	c.(2674-2676)Gaa>Taa	p.E892*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTAATAGTTCTTTTGTGTTA	0.318			T	NTRK1	papillary thyroid								False	0	True	1:186319457	0	A	186319457	C	A	186319457	4	1	88	1	0	0	0	0	0	1	0	0	16499	922	32	3	4541	3	TPR	1	186319457	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12229	186319457	62931164	1506	9218											
TPR	7175	broad.mit.edu	37	chr1	186330803	186330803	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttcctctactgcccgggtTagttcattgctctttgcttc	8	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186330803T>C	ENST00000367478.4	-	9	1205	c.909A>G	c.(907-909)ctA>ctG	p.L303L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTGCCCGGGTTAGTTCATTGC	0.353			T	NTRK1	papillary thyroid								False	0	False	1:186330803	0	C	186330803	T	C	186330803	2	2	88	1	0	0	0	0	0	0	0	1	16499	1741	61	4		4	TPR	1	186330803	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11346	186330803	62919818	1507	9219											
OCLM	10896	broad.mit.edu	37	chr1	186370258	186370258	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctatttaaaaatcctttaTaaaagtggtattatatggct	5	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186370258T>C	ENST00000574641.1	+	1	555	c.81T>C	c.(79-81)taT>taC	p.Y27Y	C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000419367.3_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	27					visual perception												AAATCCTTTATAAAAGTGGTA	0.323													False	0	True	1:186370258	0	C	186370258	T	C	186370258	2	2	88	1	0	0	0	0	0	0	0	1	10887	1413	49	4		4	OCLM	1	186370258	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39455	186370258	62880363	1508	9220											
PTGS2	5743	broad.mit.edu	37	chr1	186645084	186645084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgggtaattccatgttcCagcaatatagagttgttgta	9	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186645084C>T	ENST00000367468.5	-	8	1339	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	401					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TTCCATGTTCCAGCAATATAG	0.388													False	0	False	1:186645084	0	T	186645084	C	T	186645084	2	4	88	1	0	0	0	0	0	0	0	1	12833	581	21	2		2	PTGS2	1	186645084	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274826	186645084	62605537	1509	9221											
RGS1	5996	broad.mit.edu	37	chr1	192545470	192545470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccacatctggaatctggaAtgaaatcttccaagtccaag	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:192545470A>G	ENST00000367459.3	+	2	259	c.193A>G	c.(193-195)Atg>Gtg	p.M65V	RGS1_ENST00000469578.2_Missense_Mutation_p.M65V	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	65					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GGAATCTGGAATGAAATCTTC	0.338													False	0	False	1:192545470	0	G	192545470	A	G	192545470	3	3	88	1	0	0	0	0	1	0	0	0	13371	101	4	4	199	4	RGS1	1	192545470	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5900386	192545470	56705151	1510	9222											
RGS2	5997	broad.mit.edu	37	chr1	192778279	192778279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcagtggccacaagagCgaggagaagcgagaaaagat	16	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:192778279C>T	ENST00000235382.5	+	1	109	c.78C>T	c.(76-78)agC>agT	p.S26S	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	26					cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						GCCACAAGAGCGAGGAGAAGC	0.567													False	0	False	1:192778279	0	T	192778279	C	T	192778279	2	4	88	1	0	0	0	0	0	0	0	1	13381	767	27	1		1	RGS2	1	192778279	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232809	192778279	56472342	1511	9223											
CDC73	79577	broad.mit.edu	37	chr1	193104572	193104572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttagaaataggtcttcagcGatctactcaaggtatgtctt	8	8	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193104572G>A	ENST00000367435.3	+	4	543	c.359G>A	c.(358-360)cGa>cAa	p.R120Q		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	120					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GGTCTTCAGCGATCTACTCAA	0.338													False	0	False	1:193104572	0	A	193104572	G	A	193104572	3	1	88	1	0	0	0	0	1	0	0	0	3108	1058	37	1	373	1	CDC73	1	193104572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326293	193104572	56146049	1512	9224											
CDC73	79577	broad.mit.edu	37	chr1	193111038	193111038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcaaagccaaaattatgGctaagaaaagatctactatc	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193111038G>A	ENST00000367435.3	+	7	755	c.571G>A	c.(571-573)Gct>Act	p.A191T		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	191					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CAAAATTATGGCTAAGAAAAG	0.373													False	0	False	1:193111038	0	A	193111038	G	A	193111038	3	1	88	1	0	0	0	0	1	0	0	0	3108	1203	42	2	597	2	CDC73	1	193111038	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6466	193111038	56139583	1513	9225											
CDC73	79577	broad.mit.edu	37	chr1	193117091	193117091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgccccaaatgcagcacCtgtggtaagaatgctttact	8	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193117091C>T	ENST00000367435.3	+	8	1008	c.824C>T	c.(823-825)cCt>cTt	p.P275L		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	275					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AATGCAGCACCTGTGGTAAGA	0.383													False	0	False	1:193117091	0	T	193117091	C	T	193117091	3	4	88	1	0	0	0	0	1	0	0	0	3108	681	24	2	854	2	CDC73	1	193117091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6053	193117091	56133530	1514	9226											
KCNT2	343450	broad.mit.edu	37	chr1	196227349	196227349	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccactgtagaaagacccaaGtgtttcattctatttttcac	5	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196227349G>T	ENST00000367433.5	-	25	3215	c.3114C>A	c.(3112-3114)caC>caA	p.H1038Q	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.H1062Q|KCNT2_ENST00000609185.1_Missense_Mutation_p.H995Q|KCNT2_ENST00000367431.4_Missense_Mutation_p.H996Q	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1062						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAGACCCAAGTGTTTCATTC	0.378													False	0	False	1:196227349	0	T	196227349	G	T	196227349	3	4	88	1	0	0	0	0	1	0	0	0	8142	1020	36	3	233	3	KCNT2	1	196227349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3110258	196227349	53023272	1515	9227											
KCNT2	343450	broad.mit.edu	37	chr1	196254830	196254830	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactgatgctaaacaccctcCcagcagcaaaaggcagtcga	8	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196254830C>A	ENST00000367433.5	-	22	2683	c.2582G>T	c.(2581-2583)gGg>gTg	p.G861V	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.G885V|KCNT2_ENST00000609185.1_Missense_Mutation_p.G811V|KCNT2_ENST00000367431.4_Missense_Mutation_p.G811V	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	885						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAACACCCTCCCAGCAGCAAA	0.368													False	0	True	1:196254830	0	A	196254830	C	A	196254830	3	1	88	1	0	0	0	0	1	0	0	0	8142	623	22	3	777	3	KCNT2	1	196254830	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27481	196254830	52995791	1516	9228											
CFH	3075	broad.mit.edu	37	chr1	196642123	196642123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtagattgcaatgaacttcCtccaagaagaaatacagaaa	7	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196642123C>A	ENST00000367429.4	+	2	314	c.74C>A	c.(73-75)cCt>cAt	p.P25H	CFH_ENST00000439155.2_Missense_Mutation_p.P25H|CFH_ENST00000359637.2_Missense_Mutation_p.P25H|CFH_ENST00000496761.1_3'UTR	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	25	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATGAACTTCCTCCAAGAAGA	0.348													False	0	False	1:196642123	0	A	196642123	C	A	196642123	3	1	88	1	0	0	0	0	1	0	0	0	3306	681	24	3	80	3	CFH	1	196642123	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	387293	196642123	52608498	1517	9229											
CFH	3075	broad.mit.edu	37	chr1	196659307	196659307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctacgctcttccaaaagCgcagaccacagttacatgta	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196659307C>T	ENST00000367429.4	+	9	1514	c.1274C>T	c.(1273-1275)gCg>gTg	p.A425V	CFH_ENST00000439155.2_Missense_Mutation_p.A425V|CFH_ENST00000359637.2_Missense_Mutation_p.A361V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	425	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTCCAAAAGCGCAGACCACA	0.433													False	0	False	1:196659307	0	T	196659307	C	T	196659307	3	4	88	1	0	0	0	0	1	0	0	0	3306	768	27	1	1308	1	CFH	1	196659307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17184	196659307	52591314	1518	9230											
CFH	3075	broad.mit.edu	37	chr1	196684801	196684801	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taagctgaatgacacattggActatgaatgccatgatggtt	10	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196684801A>T	ENST00000367429.4	+	11	1838	c.1598A>T	c.(1597-1599)gAc>gTc	p.D533V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	533	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						gacacattGGACTATGAATGC	0.363													False	0	False	1:196684801	0	T	196684801	A	T	196684801	3	4	88	1	0	0	0	0	1	0	0	0	3306	275	10	5	1658	5	CFH	1	196684801	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25494	196684801	52565820	1519	9231											
CFHR1	3078	broad.mit.edu	37	chr1	196800998	196800998	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggacagccaaacagaagCtttatttgagaacaggtgaa	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196800998C>A	ENST00000320493.5	+	6	950	c.862C>A	c.(862-864)Ctt>Att	p.L288I	CFHR1_ENST00000367424.4_Missense_Mutation_p.L229I|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	288	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CAAACAGAAGCTTTATTTGAG	0.368													False	0	True	1:196800998	0	A	196800998	C	A	196800998	3	1	88	1	0	0	0	0	1	0	0	0	3307	797	28	3	884	3	CFHR1	1	196800998	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116197	196800998	52449623	1520	9232											
CFHR2	3080	broad.mit.edu	37	chr1	196920108	196920108	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaacaatgagaacaacaTttcatgtgtagaacggggct	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196920108T>G	ENST00000367415.5	+	3	480	c.380T>G	c.(379-381)aTt>aGt	p.I127S	CFHR2_ENST00000476712.2_Missense_Mutation_p.I111S|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.I127S	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2		Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GAGAACAACATTTCATGTGTA	0.388													False	0	True	1:196920108	0	G	196920108	T	G	196920108	3	3	88	1	0	0	0	0	1	0	0	0	3308	1493	52	4	390	4	CFHR2	1	196920108	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119110	196920108	52330513	1521	9233											
F13B	2165	broad.mit.edu	37	chr1	197032070	197032070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttcagtggtataaccaGccaagcagaaaaatgacaat	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197032070G>A	ENST00000367412.1	-	2	225	c.182C>T	c.(181-183)gCt>gTt	p.A61V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	61	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GGTATAACCAGCCAAGCAGAA	0.398													False	0	False	1:197032070	0	A	197032070	G	A	197032070	3	1	88	1	0	0	0	0	1	0	0	0	5374	971	34	2	1847	2	F13B	1	197032070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111962	197032070	52218551	1522	9234											
ASPM	259266	broad.mit.edu	37	chr1	197069629	197069629	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tataaatcctttacttctagCttgaataatgataacactgc	4	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197069629C>A	ENST00000367409.4	-	18	9008	c.8752G>T	c.(8752-8754)Gct>Tct	p.A2918S	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2918	IQ 33.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACTTCTAGCTTGAATAATG	0.299													False	0	False	1:197069629	0	A	197069629	C	A	197069629	3	1	88	1	0	0	0	0	1	0	0	0	1060	797	28	3	1725	3	ASPM	1	197069629	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37559	197069629	52180992	1523	9235											
ASPM	259266	broad.mit.edu	37	chr1	197071117	197071117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgaatcttctcctcaccaGtaatgatctaaacctactct	3	12	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197071117G>A	ENST00000367409.4	-	18	7520	c.7264C>T	c.(7264-7266)Ctg>Ttg	p.L2422L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2422	IQ 25.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCCTCACCAGTAATGATCTA	0.383													False	0	False	1:197071117	0	A	197071117	G	A	197071117	2	1	88	1	0	0	0	0	0	0	0	1	1060	1020	36	2		2	ASPM	1	197071117	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1488	197071117	52179504	1524	9236											
ASPM	259266	broad.mit.edu	37	chr1	197072431	197072431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacttcttttgttgcacatGcattctatagtatgactgta	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072431G>T	ENST00000367409.4	-	18	6206	c.5950C>A	c.(5950-5952)Cat>Aat	p.H1984N	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1984	IQ 13.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTTGCACATGCATTCTATAG	0.358													False	0	False	1:197072431	0	T	197072431	G	T	197072431	3	4	88	1	0	0	0	0	1	0	0	0	1060	1319	46	3	4527	3	ASPM	1	197072431	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1314	197072431	52178190	1525	9237											
ASPM	259266	broad.mit.edu	37	chr1	197072533	197072533	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agattgaagcaccagtaccgCatgacggagttcaatatact	9	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072533C>A	ENST00000367409.4	-	18	6104	c.5848G>T	c.(5848-5850)Gcg>Tcg	p.A1950S	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1950	IQ 12.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCAGTACCGCATGACGGAGT	0.393													False	0	False	1:197072533	0	A	197072533	C	A	197072533	3	1	88	1	0	0	0	0	1	0	0	0	1060	710	25	3	4629	3	ASPM	1	197072533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102	197072533	52178088	1526	9238											
ASPM	259266	broad.mit.edu	37	chr1	197072923	197072923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatagattgttgtttgattaGctggcgtactttataacctc	8	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072923G>A	ENST00000367409.4	-	18	5714	c.5458C>T	c.(5458-5460)Cta>Tta	p.L1820L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1820	IQ 8.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTTTGATTAGCTGGCGTACT	0.358													False	0	False	1:197072923	0	A	197072923	G	A	197072923	2	1	88	1	0	0	0	0	0	0	0	1	1060	962	34	2		2	ASPM	1	197072923	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	390	197072923	52177698	1527	9239											
ASPM	259266	broad.mit.edu	37	chr1	197073218	197073218	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctgcatatactcttctctCttttgtgcagctattttttt	4	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197073218C>A	ENST00000367409.4	-	18	5419	c.5163G>T	c.(5161-5163)aaG>aaT	p.K1721N	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1721					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTCTTCTCTCTTTTGTGCAG	0.378													False	0	True	1:197073218	0	A	197073218	C	A	197073218	3	1	88	1	0	0	0	0	1	0	0	0	1060	912	32	3	5314	3	ASPM	1	197073218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295	197073218	52177403	1528	9240											
ASPM	259266	broad.mit.edu	37	chr1	197074013	197074013	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagcttgttttcttaaatgCcattctctaaaagctctttg	5	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197074013C>T	ENST00000367409.4	-	18	4624	c.4368G>A	c.(4366-4368)tgG>tgA	p.W1456*	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1456					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTTAAATGCCATTCTCTAA	0.284													False	0	False	1:197074013	0	T	197074013	C	T	197074013	4	4	88	1	0	0	0	0	0	1	0	0	1060	740	26	2	6109	2	ASPM	1	197074013	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	795	197074013	52176608	1529	9241											
ASPM	259266	broad.mit.edu	37	chr1	197091137	197091137	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctttacgaagatccaaaaGccttgcacaaagaaatgaca	6	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197091137G>T	ENST00000367409.4	-	16	4034	c.3778C>A	c.(3778-3780)Ctt>Att	p.L1260I	ASPM_ENST00000367408.1_Missense_Mutation_p.L510I|ASPM_ENST00000294732.7_Missense_Mutation_p.L1260I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1260					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGATCCAAAAGCCTTGCACAA	0.338													False	0	True	1:197091137	0	T	197091137	G	T	197091137	3	4	88	1	0	0	0	0	1	0	0	0	1060	971	34	3	6707	3	ASPM	1	197091137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17124	197091137	52159484	1530	9242											
ASPM	259266	broad.mit.edu	37	chr1	197097665	197097665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacggcaagatttgtaacgGcaaaatcaaattcatcaaat	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197097665G>A	ENST00000367409.4	-	10	3147	c.2891C>T	c.(2890-2892)gCc>gTc	p.A964V	ASPM_ENST00000367408.1_Missense_Mutation_p.A214V|ASPM_ENST00000294732.7_Missense_Mutation_p.A964V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	964	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTTGTAACGGCAAAATCAAA	0.398													False	0	False	1:197097665	0	A	197097665	G	A	197097665	3	1	88	1	0	0	0	0	1	0	0	0	1060	1203	42	2	7618	2	ASPM	1	197097665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6528	197097665	52152956	1531	9243											
ASPM	259266	broad.mit.edu	37	chr1	197099113	197099113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcaggattccaaagtaggCgattcagaataaacatagcc	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197099113C>T	ENST00000367409.4	-	8	2817	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	ASPM_ENST00000367408.1_Missense_Mutation_p.R104H|ASPM_ENST00000294732.7_Missense_Mutation_p.R854H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	854					mitosis	cytoplasm|nucleus	calmodulin binding	p.R854H(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCAAAGTAGGCGATTCAGAAT	0.408													False	0	False	1:197099113	0	T	197099113	C	T	197099113	3	4	88	1	0	0	0	0	1	0	0	0	1060	768	27	1	7956	1	ASPM	1	197099113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1448	197099113	52151508	1532	9244											
ASPM	259266	broad.mit.edu	37	chr1	197111833	197111833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgttgagacatctttttgCttttggtttattaatctcag	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197111833C>T	ENST00000367409.4	-	3	1805	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	ASPM_ENST00000294732.7_Missense_Mutation_p.A517T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	517					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATCTTTTTGCTTTTGGTTTA	0.343													False	0	True	1:197111833	0	T	197111833	C	T	197111833	3	4	88	1	0	0	0	0	1	0	0	0	1060	797	28	2	8988	2	ASPM	1	197111833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12720	197111833	52138788	1533	9245											
ASPM	259266	broad.mit.edu	37	chr1	197112583	197112583	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcattaaaagaaacttttgAaacgttggcactgtgtacat	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197112583A>C	ENST00000367409.4	-	3	1055	c.799T>G	c.(799-801)Tca>Gca	p.S267A	ASPM_ENST00000294732.7_Missense_Mutation_p.S267A	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	267					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAAACTTTTGAAACGTTGGCA	0.378													False	0	True	1:197112583	0	C	197112583	A	C	197112583	3	2	88	1	0	0	0	0	1	0	0	0	1060	246	9	4	9738	4	ASPM	1	197112583	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	750	197112583	52138038	1534	9246											
ZBTB41	360023	broad.mit.edu	37	chr1	197168633	197168633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcattatgatccttttcaCtttgttcttcaatgtcagag	5	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197168633C>T	ENST00000367405.4	-	1	1039	c.971G>A	c.(970-972)aGt>aAt	p.S324N	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ATCCTTTTCACTTTGTTCTTC	0.418													False	0	True	1:197168633	0	T	197168633	C	T	197168633	3	4	88	1	0	0	0	0	1	0	0	0	17626	565	20	2	1798	2	ZBTB41	1	197168633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56050	197168633	52081988	1535	9247											
ZBTB41	360023	broad.mit.edu	37	chr1	197169467	197169467	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtaacagtgaagagctTcaggagttggtcttcctgca	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197169467T>G	ENST00000367405.4	-	1	205	c.137A>C	c.(136-138)gAa>gCa	p.E46A	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTGAAGAGCTTCAGGAGTTGG	0.383													False	0	False	1:197169467	0	G	197169467	T	G	197169467	3	3	88	1	0	0	0	0	1	0	0	0	17626	1783	62	4	2632	4	ZBTB41	1	197169467	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	834	197169467	52081154	1536	9248											
CRB1	23418	broad.mit.edu	37	chr1	197297570	197297570	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agattccttttgcaataaaaAcaacaccaggtgcctctcaa	5	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197297570A>C	ENST00000367400.3	+	2	224	c.89A>C	c.(88-90)aAc>aCc	p.N30T	CRB1_ENST00000367399.2_Missense_Mutation_p.N30T|CRB1_ENST00000538660.1_Missense_Mutation_p.N30T|CRB1_ENST00000535699.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	30	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCAATAAAAACAACACCAGG	0.313													False	0	True	1:197297570	0	C	197297570	A	C	197297570	3	2	88	1	0	0	0	0	1	0	0	0	3871	43	2	4	95	4	CRB1	1	197297570	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	128103	197297570	51953051	1537	9249											
CRB1	23418	broad.mit.edu	37	chr1	197297875	197297875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatcaggaccctatttatCctgtctgcatctgccctgct	7	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197297875C>T	ENST00000367400.3	+	2	529	c.394C>T	c.(394-396)Cct>Tct	p.P132S	CRB1_ENST00000367399.2_Missense_Mutation_p.P132S|CRB1_ENST00000538660.1_Missense_Mutation_p.P132S|CRB1_ENST00000535699.1_Missense_Mutation_p.P63S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	132	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCCTATTTATCCTGTCTGCAT	0.512													False	0	False	1:197297875	0	T	197297875	C	T	197297875	3	4	88	1	0	0	0	0	1	0	0	0	3871	855	30	2	400	2	CRB1	1	197297875	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	305	197297875	51952746	1538	9250											
CRB1	23418	broad.mit.edu	37	chr1	197298117	197298117	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatatacttgtatctgTccccacaattattctggtaa	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197298117T>C	ENST00000367400.3	+	2	771	c.636T>C	c.(634-636)tgT>tgC	p.C212C	CRB1_ENST00000367399.2_Silent_p.C212C|CRB1_ENST00000538660.1_Silent_p.C212C|CRB1_ENST00000535699.1_Silent_p.C143C	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	212	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTTGTATCTGTCCCCACAATT	0.418													False	0	True	1:197298117	0	C	197298117	T	C	197298117	2	2	88	1	0	0	0	0	0	0	0	1	3871	1673	58	4		4	CRB1	1	197298117	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	242	197298117	51952504	1539	9251											
CRB1	23418	broad.mit.edu	37	chr1	197316584	197316584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgtgaggacagtgttgaCaattacacttgtcactgctg	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197316584C>T	ENST00000367400.3	+	4	1098	c.963C>T	c.(961-963)gaC>gaT	p.D321D	CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Silent_p.D321D|CRB1_ENST00000543483.1_Silent_p.D20D|CRB1_ENST00000535699.1_Silent_p.D252D	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	321	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAGTGTTGACAATTACACTT	0.408													False	0	False	1:197316584	0	T	197316584	C	T	197316584	2	4	88	1	0	0	0	0	0	0	0	1	3871	477	17	2		2	CRB1	1	197316584	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18467	197316584	51934037	1540	9252											
CRB1	23418	broad.mit.edu	37	chr1	197390735	197390735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaaggagaaatgcatcGcgaaagctcctactccactt	8	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197390735G>A	ENST00000367400.3	+	6	1912	c.1777G>A	c.(1777-1779)Gcg>Acg	p.A593T	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.A481T|CRB1_ENST00000538660.1_Missense_Mutation_p.A593T|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.A524T|CRB1_ENST00000544212.1_Missense_Mutation_p.A74T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	593	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.A593T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GAAATGCATCGCGAAAGCTCC	0.468													False	0	False	1:197390735	0	A	197390735	G	A	197390735	3	1	88	1	0	0	0	0	1	0	0	0	3871	1087	38	1	1799	1	CRB1	1	197390735	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74151	197390735	51859886	1541	9253											
CRB1	23418	broad.mit.edu	37	chr1	197396679	197396679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccatcagcctctccatgTttgtccgaacgcttcaacca	5	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197396679T>C	ENST00000367397.1	+	3	1225	c.367T>C	c.(367-369)Ttt>Ctt	p.F123L	CRB1_ENST00000367399.2_Missense_Mutation_p.F630L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.F742L|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.F673L|CRB1_ENST00000544212.1_Missense_Mutation_p.F223L			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	742	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTCTCCATGTTTGTCCGAAC	0.473													False	0	True	1:197396679	0	C	197396679	T	C	197396679	3	2	88	1	0	0	0	0	1	0	0	0	3871	1725	60	4	2250	4	CRB1	1	197396679	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5944	197396679	51853942	1542	9254											
CRB1	23418	broad.mit.edu	37	chr1	197397131	197397131	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggagacaacagctgcaaGgtaatgattactcatacaaa	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197397131G>T	ENST00000367397.1	+	3	1677	c.819G>T	c.(817-819)aaG>aaT	p.K273N	CRB1_ENST00000367399.2_Splice_Site_p.K780N|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Splice_Site_p.K892N|CRB1_ENST00000535699.1_Splice_Site_p.K823N|CRB1_ENST00000544212.1_Splice_Site_p.K373N			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	892	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAGCTGCAAGGTAATGATTA	0.323													False	0	False	1:197397131	0	T	197397131	G	T	197397131	5	4	88	1	0	0	0	0	0	0	1	0	3871	1014	35	3	2702	3	CRB1	1	197397131	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	452	197397131	51853490	1543	9255											
CRB1	23418	broad.mit.edu	37	chr1	197404736	197404736	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaaattttacaggaaaatTttgcaggtgagcataaagtc	10	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197404736T>G	ENST00000367397.1	+	5	2744	c.1886T>G	c.(1885-1887)tTt>tGt	p.F629C	CRB1_ENST00000367399.2_Missense_Mutation_p.F1136C|CRB1_ENST00000538660.1_Missense_Mutation_p.F712C|CRB1_ENST00000367400.3_Missense_Mutation_p.F1248C|CRB1_ENST00000535699.1_Missense_Mutation_p.F1224C|CRB1_ENST00000544212.1_Missense_Mutation_p.F729C			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1248	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAGGAAAATTTTGCAGGTGA	0.408													False	0	True	1:197404736	0	G	197404736	T	G	197404736	3	3	88	1	0	0	0	0	1	0	0	0	3871	1841	64	4	3777	4	CRB1	1	197404736	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7605	197404736	51845885	1544	9256											
C1orf53	388722	broad.mit.edu	37	chr1	197875015	197875015	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggtgaatgttgtggctcTgcgtgcagacatgtgagtag	16	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197875015T>C	ENST00000367393.3	+	2	357	c.354T>C	c.(352-354)tcT>tcC	p.S118S	C1orf53_ENST00000542800.1_3'UTR	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	118										endometrium(1)|lung(1)	2						GTTGTGGCTCTGCGTGCAGAC	0.448													False	0	False	1:197875015	0	C	197875015	T	C	197875015	2	2	88	1	0	0	0	0	0	0	0	1	2061	1567	55	4		4	C1orf53	1	197875015	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	470279	197875015	51375606	1545	9257											
NEK7	140609	broad.mit.edu	37	chr1	198201767	198201767	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcctcagttccaaccacaGgtaatttatcctaattaaga	5	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198201767G>T	ENST00000367385.4	+	2	399	c.57G>T	c.(55-57)caG>caT	p.Q19H	NEK7_ENST00000538004.1_Splice_Site_p.Q19H|NEK7_ENST00000367383.1_Splice_Site_p.Q19H|NEK7_ENST00000417895.1_3'UTR	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	19						cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TCCAACCACAGGTAATTTATC	0.363													False	0	False	1:198201767	0	T	198201767	G	T	198201767	5	4	88	1	0	0	0	0	0	0	1	0	10397	1014	35	3	59	3	NEK7	1	198201767	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326752	198201767	51048854	1546	9258											
PTPRC	5788	broad.mit.edu	37	chr1	198687417	198687417	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagatcttcaatattcaacaGactacacttttaaggtaaaa	4	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198687417G>A	ENST00000367376.2	+	14	1810	c.1639G>A	c.(1639-1641)Gac>Aac	p.D547N	PTPRC_ENST00000594404.1_Missense_Mutation_p.D386N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D499N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D388N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D549N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	547	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATATTCAACAGACTACACTTT	0.328													False	0	False	1:198687417	0	A	198687417	G	A	198687417	3	1	88	1	0	0	0	0	1	0	0	0	12876	942	33	2	1700	2	PTPRC	1	198687417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	485650	198687417	50563204	1547	9259											
PTPRC	5788	broad.mit.edu	37	chr1	198718653	198718653	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgattcagaggaaccaagcaAatacatcaatgcatctttta	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198718653A>C	ENST00000367376.2	+	28	3212	c.3041A>C	c.(3040-3042)aAa>aCa	p.K1014T	PTPRC_ENST00000594404.1_Missense_Mutation_p.K853T|PTPRC_ENST00000352140.3_Missense_Mutation_p.K966T|PTPRC_ENST00000348564.6_Missense_Mutation_p.K855T|PTPRC_ENST00000442510.2_Missense_Mutation_p.K1016T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1014	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAACCAAGCAAATACATCAAT	0.348													False	0	True	1:198718653	0	C	198718653	A	C	198718653	3	2	88	1	0	0	0	0	1	0	0	0	12876	14	1	4	3158	4	PTPRC	1	198718653	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31236	198718653	50531968	1548	9260											
ZNF281	23528	broad.mit.edu	37	chr1	200376162	200376162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccttacctgtaactctggCtggtgggtgtctttactctt	10	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200376162C>A	ENST00000294740.3	-	2	2796	c.2672G>T	c.(2671-2673)aGc>aTc	p.S891I	ZNF281_ENST00000367353.1_Missense_Mutation_p.S891I|ZNF281_ENST00000367352.3_Missense_Mutation_p.S855I	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GTAACTCTGGCTGGTGGGTGT	0.418													False	0	True	1:200376162	0	A	200376162	C	A	200376162	3	1	88	1	0	0	0	0	1	0	0	0	17901	797	28	3	19	3	ZNF281	1	200376162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1657509	200376162	48874459	1549	9261											
ZNF281	23528	broad.mit.edu	37	chr1	200377323	200377323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactattatttgatactatgCcaagtgagccacttggtttt	7	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200377323C>T	ENST00000294740.3	-	2	1635	c.1511G>A	c.(1510-1512)gGc>gAc	p.G504D	ZNF281_ENST00000367353.1_Missense_Mutation_p.G504D|ZNF281_ENST00000367352.3_Missense_Mutation_p.G468D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGATACTATGCCAAGTGAGCC	0.383													False	0	False	1:200377323	0	T	200377323	C	T	200377323	3	4	88	1	0	0	0	0	1	0	0	0	17901	739	26	2	1180	2	ZNF281	1	200377323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1161	200377323	48873298	1550	9262											
KIF14	9928	broad.mit.edu	37	chr1	200524583	200524583	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttcatttctttggtaacCtatagagaatgttaaaatat	6	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200524583C>T	ENST00000367350.4	-	28	4792		c.e28-1			NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14						microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTTTGGTAACCTATAGAGAAT	0.269													False	0	False	1:200524583	0	T	200524583	C	T	200524583	5	4	88	1	0	0	0	0	0	0	1	0	8326	695	24	2	605	2	KIF14	1	200524583	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147260	200524583	48726038	1551	9263											
KIF14	9928	broad.mit.edu	37	chr1	200544719	200544719	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtaacaaaattgtctttacCtccttctagaaagtgaagaa	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200544719C>A	ENST00000367350.4	-	22	4004	c.3566G>T	c.(3565-3567)aGg>aTg	p.R1189M		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1189	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTGTCTTTACCTCCTTCTAGA	0.368													False	0	False	1:200544719	0	A	200544719	C	A	200544719	5	1	88	1	0	0	0	0	0	0	1	0	8326	695	24	3	1416	3	KIF14	1	200544719	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20136	200544719	48705902	1552	9264											
DDX59	83479	broad.mit.edu	37	chr1	200628173	200628173	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acttcatctactaccacaatCtttacaccacagagttctac	2	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200628173C>A	ENST00000447706.2	-	4	1195	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	DDX59_ENST00000331314.6_Missense_Mutation_p.K348N|DDX59_ENST00000367348.3_Missense_Mutation_p.K348N			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	348	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTACCACAATCTTTACACCAC	0.308													False	0	True	1:200628173	0	A	200628173	C	A	200628173	3	1	88	1	0	0	0	0	1	0	0	0	4401	912	32	3	835	3	DDX59	1	200628173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83454	200628173	48622448	1553	9265											
DDX59	83479	broad.mit.edu	37	chr1	200635067	200635067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctattattaacacttacctCgaataaagctcgcatgataa	4	9	1	1	rs143810968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200635067C>T	ENST00000447706.2	-	2	953	c.802G>A	c.(802-804)Gag>Aag	p.E268K	DDX59_ENST00000331314.6_Missense_Mutation_p.E268K|DDX59_ENST00000367348.3_Missense_Mutation_p.E268K			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	268	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACACTTACCTCGAATAAAGCT	0.368													False	0	False	1:200635067	0	T	200635067	C	T	200635067	3	4	88	1	0	0	0	0	1	0	0	0	4401	893	31	1	1085	1	DDX59	1	200635067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6894	200635067	48615554	1554	9266											
DDX59	83479	broad.mit.edu	37	chr1	200635738	200635738	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcttctgtagctacaGcatcaacgggaacatctctg	10	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200635738G>T	ENST00000447706.2	-	2	282	c.131C>A	c.(130-132)gCt>gAt	p.A44D	DDX59_ENST00000331314.6_Missense_Mutation_p.A44D|DDX59_ENST00000367348.3_Missense_Mutation_p.A44D			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	44						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TGTAGCTACAGCATCAACGGG	0.483													False	0	False	1:200635738	0	T	200635738	G	T	200635738	3	4	88	1	0	0	0	0	1	0	0	0	4401	971	34	3	1756	3	DDX59	1	200635738	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	671	200635738	48614883	1555	9267											
GPR25	2848	broad.mit.edu	37	chr1	200842741	200842741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggacagccagtgcggCgaggagccctcccacgcctt	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200842741C>T	ENST00000304244.2	+	1	659	c.576C>T	c.(574-576)ggC>ggT	p.G192G		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	192						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GCCAGTGCGGCGAGGAGCCCT	0.711													False	0	False	1:200842741	0	T	200842741	C	T	200842741	2	4	88	1	0	0	0	0	0	0	0	1	6729	755	27	1		1	GPR25	1	200842741	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207003	200842741	48407880	1556	9268											
KIF21B	23046	broad.mit.edu	37	chr1	200959456	200959456	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaggaacagctcctccCttttctggggtcagagggga	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200959456C>A	ENST00000332129.2	-	20	3156	c.2840G>T	c.(2839-2841)aGg>aTg	p.R947M	KIF21B_ENST00000461742.2_Missense_Mutation_p.R947M|KIF21B_ENST00000360529.5_Missense_Mutation_p.R947M|KIF21B_ENST00000422435.2_Missense_Mutation_p.R947M	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	947					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCTCCTCCCTTTTCTGGGG	0.637													False	0	True	1:200959456	0	A	200959456	C	A	200959456	3	1	88	1	0	0	0	0	1	0	0	0	8339	681	24	3	2094	3	KIF21B	1	200959456	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116715	200959456	48291165	1557	9269											
KIF21B	23046	broad.mit.edu	37	chr1	200969089	200969089	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttgaaggcttccttctcGgggctgctcagggaggacag	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200969089G>A	ENST00000332129.2	-	12	2005	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P	KIF21B_ENST00000461742.2_Silent_p.P563P|KIF21B_ENST00000360529.5_Silent_p.P563P|KIF21B_ENST00000422435.2_Silent_p.P563P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	563					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTTCCTTCTCGGGGCTGCTCA	0.622													False	0	True	1:200969089	0	A	200969089	G	A	200969089	2	1	88	1	0	0	0	0	0	0	0	1	8339	1103	39	1		1	KIF21B	1	200969089	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9633	200969089	48281532	1558	9270											
KIF21B	23046	broad.mit.edu	37	chr1	200974440	200974440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggctcctcaccaggTcgggctgggtgcacatgcgc	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200974440T>C	ENST00000332129.2	-	5	1044	c.728A>G	c.(727-729)gAc>gGc	p.D243G	KIF21B_ENST00000461742.2_Missense_Mutation_p.D243G|KIF21B_ENST00000360529.5_Missense_Mutation_p.D243G|KIF21B_ENST00000422435.2_Missense_Mutation_p.D243G	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	243	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCACCAGGTCGGGCTGGGT	0.622													False	0	False	1:200974440	0	C	200974440	T	C	200974440	3	2	88	1	0	0	0	0	1	0	0	0	8339	1667	58	4	4266	4	KIF21B	1	200974440	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5351	200974440	48276181	1559	9271											
KIF21B	23046	broad.mit.edu	37	chr1	200978481	200978481	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggaatagatctgttcttgCcaggtgtccaggtcgaagac	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200978481C>A	ENST00000332129.2	-	2	493	c.177G>T	c.(175-177)tgG>tgT	p.W59C	KIF21B_ENST00000461742.2_Missense_Mutation_p.W59C|KIF21B_ENST00000360529.5_Missense_Mutation_p.W59C|KIF21B_ENST00000422435.2_Missense_Mutation_p.W59C	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	59	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCTGTTCTTGCCAGGTGTCCA	0.562													False	0	False	1:200978481	0	A	200978481	C	A	200978481	3	1	88	1	0	0	0	0	1	0	0	0	8339	740	26	3	4829	3	KIF21B	1	200978481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4041	200978481	48272140	1560	9272											
CACNA1S	779	broad.mit.edu	37	chr1	201010662	201010662	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggttggccaagggctcGtcctctggtagcaggcgtct	16	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201010662G>A	ENST00000362061.3	-	41	5330	c.5104C>T	c.(5104-5106)Cga>Tga	p.R1702*	CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.R1683*|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1702					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAAGGGCTCGTCCTCTGGTA	0.557													False	0	False	1:201010662	0	A	201010662	G	A	201010662	4	1	88	1	0	0	0	0	0	1	0	0	2567	1153	40	1	533	1	CACNA1S	1	201010662	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32181	201010662	48239959	1561	9273											
CACNA1S	779	broad.mit.edu	37	chr1	201031168	201031168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtacccactcgcggtgaCgcagctctatctgcatgggg	13	12	2	1	rs140453525	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201031168C>T	ENST00000362061.3	-	24	3183	c.2957G>A	c.(2956-2958)cGt>cAt	p.R986H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R986H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	986					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCGCGGTGACGCAGCTCTAT	0.602													False	0	False	1:201031168	0	T	201031168	C	T	201031168	3	4	88	1	0	0	0	0	1	0	0	0	2567	536	19	1	2748	1	CACNA1S	1	201031168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20506	201031168	48219453	1562	9274											
CACNA1S	779	broad.mit.edu	37	chr1	201035357	201035357	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccgggccctctctcacCttcaaccccttggctctgtt	7	19	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035357C>A	ENST00000362061.3	-	21	2971	c.2745G>T	c.(2743-2745)aaG>aaT	p.K915N	CACNA1S_ENST00000367338.3_Splice_Site_p.K915N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	915					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTCTCTCACCTTCAACCCCT	0.652													False	0	False	1:201035357	0	A	201035357	C	A	201035357	5	1	88	1	0	0	0	0	0	0	1	0	2567	695	24	3	2972	3	CACNA1S	1	201035357	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4189	201035357	48215264	1563	9275											
CACNA1S	779	broad.mit.edu	37	chr1	201035407	201035407	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtggtcggagcaccctcaGcaccctcaggatcttcacca	10	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035407G>T	ENST00000362061.3	-	21	2921	c.2695C>A	c.(2695-2697)Ctg>Atg	p.L899M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L899M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	899					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGCACCCTCAGCACCCTCAGG	0.652													False	0	True	1:201035407	0	T	201035407	G	T	201035407	3	4	88	1	0	0	0	0	1	0	0	0	2567	962	34	3	3022	3	CACNA1S	1	201035407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	201035407	48215214	1564	9276											
CACNA1S	779	broad.mit.edu	37	chr1	201052427	201052427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacttccagcgaaagatgCggttccactgcctccaatgt	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201052427C>T	ENST00000362061.3	-	10	1482	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R419H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	419					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCGAAAGATGCGGTTCCACTG	0.542													False	0	False	1:201052427	0	T	201052427	C	T	201052427	3	4	88	1	0	0	0	0	1	0	0	0	2567	768	27	1	4505	1	CACNA1S	1	201052427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17020	201052427	48198194	1565	9277											
PKP1	5317	broad.mit.edu	37	chr1	201252867	201252867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaagaccgccttggcgtacGaatgcttccaggaccaggac	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201252867G>A	ENST00000263946.3	+	1	288	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	PKP1_ENST00000367324.3_Missense_Mutation_p.E13K|PKP1_ENST00000352845.3_Missense_Mutation_p.E13K	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	13					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CTTGGCGTACGAATGCTTCCA	0.652													False	0	False	1:201252867	0	A	201252867	G	A	201252867	3	1	88	1	0	0	0	0	1	0	0	0	12053	1059	37	1	39	1	PKP1	1	201252867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200440	201252867	47997754	1566	9278											
PKP1	5317	broad.mit.edu	37	chr1	201286865	201286865	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgcgaggcagtcagcctcCtgaggagaaccgggaacgcc	14	14	1	2	rs12562244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201286865C>A	ENST00000263946.3	+	5	1263	c.1012C>A	c.(1012-1014)Ctg>Atg	p.L338M	PKP1_ENST00000367324.3_Missense_Mutation_p.L338M|PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000352845.3_Missense_Mutation_p.L338M	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	338					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						AGTCAGCCTCCTGAGGAGAAC	0.652													False	0	False	1:201286865	0	A	201286865	C	A	201286865	3	1	88	1	0	0	0	0	1	0	0	0	12053	680	24	3	1030	3	PKP1	1	201286865	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33998	201286865	47963756	1567	9279											
PKP1	5317	broad.mit.edu	37	chr1	201289433	201289433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggccgccagaccatgcGtaactactcagggctcattg	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201289433G>A	ENST00000263946.3	+	8	1585	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	PKP1_ENST00000367324.3_Missense_Mutation_p.R424H|PKP1_ENST00000352845.3_Missense_Mutation_p.R445H	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	445					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CAGACCATGCGTAACTACTCA	0.607													False	0	False	1:201289433	0	A	201289433	G	A	201289433	3	1	88	1	0	0	0	0	1	0	0	0	12053	1145	40	1	1364	1	PKP1	1	201289433	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2568	201289433	47961188	1568	9280											
TNNT2	7139	broad.mit.edu	37	chr1	201333469	201333469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccgctcattccggatgCgctgctgctcggcccgctct	10	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201333469C>T	ENST00000509001.1	-	10	702	c.416G>A	c.(415-417)cGc>cAc	p.R139H	TNNT2_ENST00000367318.5_Missense_Mutation_p.R139H|TNNT2_ENST00000367315.2_Missense_Mutation_p.R139H|TNNT2_ENST00000367317.4_Missense_Mutation_p.R139H|TNNT2_ENST00000367322.1_Missense_Mutation_p.R139H|TNNT2_ENST00000367320.2_Missense_Mutation_p.R109H|TNNT2_ENST00000236918.7_Missense_Mutation_p.R144H|TNNT2_ENST00000421663.2_Missense_Mutation_p.R141H|TNNT2_ENST00000360372.4_Missense_Mutation_p.R134H|TNNT2_ENST00000458432.2_Missense_Mutation_p.R151H	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	149			R -> K.		ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						ATTCCGGATGCGCTGCTGCTC	0.642													False	0	True	1:201333469	0	T	201333469	C	T	201333469	3	4	88	1	0	0	0	0	1	0	0	0	16413	768	27	1	481	1	TNNT2	1	201333469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44036	201333469	47917152	1569	9281											
TNNT2	7139	broad.mit.edu	37	chr1	201337290	201337290	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctcaaccagagacttacCttctgccctggtctcctcgg	7	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201337290C>A	ENST00000509001.1	-	5	419	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	TNNT2_ENST00000367318.5_Splice_Site_p.E45*|TNNT2_ENST00000367315.2_Splice_Site_p.E45*|TNNT2_ENST00000367317.4_Splice_Site_p.E45*|TNNT2_ENST00000367322.1_Splice_Site_p.E45*|TNNT2_ENST00000367320.2_Splice_Site_p.D55Y|TNNT2_ENST00000236918.7_Splice_Site_p.E50*|TNNT2_ENST00000421663.2_Splice_Site_p.E47*|TNNT2_ENST00000360372.4_Splice_Site_p.E40*|TNNT2_ENST00000458432.2_Splice_Site_p.E57*	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	55					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						AGAGACTTACCTTCTGCCCTG	0.597													False	0	False	1:201337290	0	A	201337290	C	A	201337290	5	1	88	1	0	0	0	0	0	0	1	0	16413	695	24	3	784	3	TNNT2	1	201337290	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3821	201337290	47913331	1570	9282											
TNNI1	7135	broad.mit.edu	37	chr1	201382201	201382201	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggcctcaatgtcgtatcGctcctcatccaccacctcca	5	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201382201G>A	ENST00000361379.4	-	6	330	c.238C>T	c.(238-240)Cga>Tga	p.R80*	TNNI1_ENST00000336092.4_Nonsense_Mutation_p.R80*|TNNI1_ENST00000367312.1_Nonsense_Mutation_p.R80*|TNNI1_ENST00000555948.1_Nonsense_Mutation_p.R80*	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	80					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						ATGTCGTATCGCTCCTCATCC	0.602													False	0	False	1:201382201	0	A	201382201	G	A	201382201	4	1	88	1	0	0	0	0	0	1	0	0	16408	1095	38	1	337	1	TNNI1	1	201382201	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44911	201382201	47868420	1571	9283											
NAV1	89796	broad.mit.edu	37	chr1	201749585	201749585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcagtagtggactcagCgatgcctcagacaatctcag	9	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201749585C>T	ENST00000367296.4	+	4	1683	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	NAV1_ENST00000367302.1_Silent_p.S434S|NAV1_ENST00000367295.1_Silent_p.S30S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Silent_p.S421S|NAV1_ENST00000295624.6_Silent_p.S421S|NAV1_ENST00000367300.3_Silent_p.S421S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	421					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GTGGACTCAGCGATGCCTCAG	0.468													False	0	False	1:201749585	0	T	201749585	C	T	201749585	2	4	88	1	0	0	0	0	0	0	0	1	10250	767	27	1		1	NAV1	1	201749585	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367384	201749585	47501036	1572	9284											
NAV1	89796	broad.mit.edu	37	chr1	201751924	201751924	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaagagtattggctccccaGaaagtactcccaagaaccaa	8	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201751924G>T	ENST00000367296.4	+	6	2704	c.2284G>T	c.(2284-2286)Gaa>Taa	p.E762*	NAV1_ENST00000367302.1_Nonsense_Mutation_p.E775*|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367295.1_Nonsense_Mutation_p.E371*|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Nonsense_Mutation_p.E762*|NAV1_ENST00000295624.6_Nonsense_Mutation_p.E762*|NAV1_ENST00000367300.3_Nonsense_Mutation_p.E762*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	762					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGCTCCCCAGAAAGTACTCC	0.567													False	0	True	1:201751924	0	T	201751924	G	T	201751924	4	4	88	1	0	0	0	0	0	1	0	0	10250	943	33	3	2363	3	NAV1	1	201751924	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2339	201751924	47498697	1573	9285											
NAV1	89796	broad.mit.edu	37	chr1	201752962	201752962	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacttggagtggaagccccaGagctgggcaactggacaggt	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201752962G>T	ENST00000367296.4	+	7	3206	c.2786G>T	c.(2785-2787)aGa>aTa	p.R929I	NAV1_ENST00000367302.1_Missense_Mutation_p.R942I|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367295.1_Missense_Mutation_p.R538I|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.R929I|NAV1_ENST00000295624.6_Missense_Mutation_p.R929I|NAV1_ENST00000367300.3_Missense_Mutation_p.R929I	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	929					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGAAGCCCCAGAGCTGGGCAA	0.557													False	0	False	1:201752962	0	T	201752962	G	T	201752962	3	4	88	1	0	0	0	0	1	0	0	0	10250	942	33	3	2869	3	NAV1	1	201752962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1038	201752962	47497659	1574	9286											
NAV1	89796	broad.mit.edu	37	chr1	201757711	201757711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcaccctgtccctggcCgagagacccaagggaatgat	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201757711C>T	ENST00000367296.4	+	10	3531	c.3111C>T	c.(3109-3111)gcC>gcT	p.A1037A	NAV1_ENST00000367302.1_Intron|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367295.1_Silent_p.A646A|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Silent_p.A1037A|NAV1_ENST00000295624.6_Silent_p.A1037A|NAV1_ENST00000367300.3_Intron	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1037					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGTCCCTGGCCGAGAGACCCA	0.617													False	0	True	1:201757711	0	T	201757711	C	T	201757711	2	4	88	1	0	0	0	0	0	0	0	1	10250	639	23	1		1	NAV1	1	201757711	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4749	201757711	47492910	1575	9287											
NAV1	89796	broad.mit.edu	37	chr1	201786359	201786359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcattgcctcacctccCgaggataggacagtcaaaga	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201786359C>T	ENST00000367296.4	+	29	5904	c.5484C>T	c.(5482-5484)ccC>ccT	p.P1828P	NAV1_ENST00000367302.1_Silent_p.P1781P|NAV1_ENST00000367295.1_Silent_p.P1434P|IPO9-AS1_ENST00000421449.1_RNA|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Silent_p.P1820P|NAV1_ENST00000295624.6_Silent_p.P1825P|NAV1_ENST00000367300.3_Silent_p.P1768P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1828					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTCACCTCCCGAGGATAGGA	0.522													False	0	True	1:201786359	0	T	201786359	C	T	201786359	2	4	88	1	0	0	0	0	0	0	0	1	10250	639	23	1		1	NAV1	1	201786359	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28648	201786359	47464262	1576	9288											
LMOD1	25802	broad.mit.edu	37	chr1	201869208	201869208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatatgctgggagctgcctcCtcctccaccttggccggtcc	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201869208C>A	ENST00000367288.4	-	2	1179	c.933G>T	c.(931-933)gaG>gaT	p.E311D		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	311					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAGCTGCCTCCTCCTCCACCT	0.537													False	0	True	1:201869208	0	A	201869208	C	A	201869208	3	1	88	1	0	0	0	0	1	0	0	0	8909	680	24	3	877	3	LMOD1	1	201869208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82849	201869208	47381413	1577	9289											
RNPEP	6051	broad.mit.edu	37	chr1	201972481	201972481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagcccaactgtgggcagccGaggagctggacatgaaggcc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201972481G>A	ENST00000295640.4	+	9	1586	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.E476K|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	515					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GTGGGCAGCCGAGGAGCTGGA	0.587													False	0	False	1:201972481	0	A	201972481	G	A	201972481	3	1	88	1	0	0	0	0	1	0	0	0	13588	1059	37	1	1577	1	RNPEP	1	201972481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103273	201972481	47278140	1578	9290											
ELF3	1999	broad.mit.edu	37	chr1	201982144	201982144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacctggatcccactgAtggcaagctcttccccagcg	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201982144A>G	ENST00000359651.3	+	5	3860	c.668A>G	c.(667-669)gAt>gGt	p.D223G	ELF3_ENST00000367283.3_Missense_Mutation_p.D223G|ELF3_ENST00000367284.5_Missense_Mutation_p.D223G|RP11-510N19.5_ENST00000504773.1_RNA			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	223					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GATCCCACTGATGGCAAGCTC	0.637													False	0	False	1:201982144	0	G	201982144	A	G	201982144	3	3	88	1	0	0	0	0	1	0	0	0	5087	333	12	4	686	4	ELF3	1	201982144	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9663	201982144	47268477	1579	9291											
PTPN7	5778	broad.mit.edu	37	chr1	202128652	202128652	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaggaggctcccatgccaGgccaggtttgcactctgttt	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202128652G>T	ENST00000367279.4	-	0	467				PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000308986.5_Intron|PTPN7_ENST00000543735.1_Intron	NM_080588.2	NP_542155.1	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7							cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						TCCCATGCCAGGCCAGGTTTG	0.582													False	0	True	1:202128652	0	T	202128652	G	T	202128652	1	4	88	1	0	0	0	0	0	0	0	0	12872	1015	35	3		3	PTPN7	1	202128652	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146508	202128652	47121969	1580	9292											
LGR6	59352	broad.mit.edu	37	chr1	202279366	202279366	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaccagtgctgtccctatgGgatgtgtgccagcttcttca	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202279366G>T	ENST00000367278.3	+	16	1537	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	LGR6_ENST00000439764.2_Missense_Mutation_p.G344V|LGR6_ENST00000255432.7_Missense_Mutation_p.G431V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	483						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGTCCCTATGGGATGTGTGCC	0.572													False	0	True	1:202279366	0	T	202279366	G	T	202279366	3	4	88	1	0	0	0	0	1	0	0	0	8810	1232	43	3	1657	3	LGR6	1	202279366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150714	202279366	46971255	1581	9293											
KDM5B	10765	broad.mit.edu	37	chr1	202698939	202698939	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgagggcagggaatgagTttcagcagaacgaactaatt	13	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202698939T>C	ENST00000367265.3	-	26	5557	c.4393A>G	c.(4393-4395)Act>Gct	p.T1465A	KDM5B_ENST00000367264.2_Missense_Mutation_p.T1501A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1465					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGGAATGAGTTTCAGCAGAA	0.483													False	0	True	1:202698939	0	C	202698939	T	C	202698939	3	2	88	1	0	0	0	0	1	0	0	0	8184	1725	60	4	249	4	KDM5B	1	202698939	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	419573	202698939	46551682	1582	9294											
KDM5B	10765	broad.mit.edu	37	chr1	202700144	202700144	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttcaggaagggatacctGgagcagctgggcttccatca	12	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202700144G>A	ENST00000367265.3	-	25	5233	c.4069C>T	c.(4069-4071)Cag>Tag	p.Q1357*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.Q1393*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1357					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGGATACCTGGAGCAGCTGG	0.458													False	0	False	1:202700144	0	A	202700144	G	A	202700144	4	1	88	1	0	0	0	0	0	1	0	0	8184	1357	47	2	577	2	KDM5B	1	202700144	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1205	202700144	46550477	1583	9295											
KDM5B	10765	broad.mit.edu	37	chr1	202705505	202705505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgagtgtgtctaacactgGcacacgtcctccagcctaat	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202705505G>A	ENST00000367265.3	-	21	4264	c.3100C>T	c.(3100-3102)Cca>Tca	p.P1034S	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1070S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1034					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCTAACACTGGCACACGTCCT	0.413													False	0	False	1:202705505	0	A	202705505	G	A	202705505	3	1	88	1	0	0	0	0	1	0	0	0	8184	1203	42	2	1562	2	KDM5B	1	202705505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5361	202705505	46545116	1584	9296											
KDM5B	10765	broad.mit.edu	37	chr1	202731903	202731903	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tataatctttcctctcaataGgttcttgcttgatgctactc	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202731903G>T	ENST00000367265.3	-	7	2006	c.842C>A	c.(841-843)cCt>cAt	p.P281H	KDM5B_ENST00000367264.2_Missense_Mutation_p.P317H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	281					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCTCTCAATAGGTTCTTGCTT	0.408													False	0	False	1:202731903	0	T	202731903	G	T	202731903	3	4	88	1	0	0	0	0	1	0	0	0	8184	1000	35	3	3876	3	KDM5B	1	202731903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26398	202731903	46518718	1585	9297											
KDM5B	10765	broad.mit.edu	37	chr1	202742404	202742404	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacaactgcaaatccaccttCttctgcaactaactgttaaa	3	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202742404C>T	ENST00000367265.3	-	4	1582	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	KDM5B_ENST00000367264.2_Missense_Mutation_p.E140K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	140	ARID.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AATCCACCTTCTTCTGCAACT	0.403													False	0	False	1:202742404	0	T	202742404	C	T	202742404	3	4	88	1	0	0	0	0	1	0	0	0	8184	922	32	2	4312	2	KDM5B	1	202742404	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10501	202742404	46508217	1586	9298											
KLHL12	59349	broad.mit.edu	37	chr1	202878242	202878242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcattgtaaactacagCggatgaaaggctgaaatata	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202878242C>T	ENST00000367261.3	-	6	946	c.728G>A	c.(727-729)cGc>cAc	p.R243H	KLHL12_ENST00000435533.3_Missense_Mutation_p.R281H|KLHL12_ENST00000367259.1_5'UTR	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	243					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TAAACTACAGCGGATGAAAGG	0.453													False	0	False	1:202878242	0	T	202878242	C	T	202878242	3	4	88	1	0	0	0	0	1	0	0	0	8418	768	27	1	1006	1	KLHL12	1	202878242	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135838	202878242	46372379	1587	9299											
ADIPOR1	51094	broad.mit.edu	37	chr1	202912992	202912992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaggtagatgagccgtggCtgtggggagcagtagaagga	20	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202912992C>A	ENST00000340990.5	-	6	997	c.699G>T	c.(697-699)caG>caT	p.Q233H	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.Q233H|ADIPOR1_ENST00000367254.3_Splice_Site	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	233					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGAGCCGTGGCTGTGGGGAGC	0.507													False	0	False	1:202912992	0	A	202912992	C	A	202912992	3	1	88	1	0	0	0	0	1	0	0	0	318	796	28	3	440	3	ADIPOR1	1	202912992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34750	202912992	46337629	1588	9300											
ADIPOR1	51094	broad.mit.edu	37	chr1	202915651	202915651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaaggagggcatgggagGtctatgaccatgtagcagat	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202915651G>A	ENST00000340990.5	-	4	644	c.346C>T	c.(346-348)Cct>Tct	p.P116S	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.P116S|ADIPOR1_ENST00000367254.3_Missense_Mutation_p.P116S	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	116					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GGCATGGGAGGTCTATGACCA	0.502													False	0	False	1:202915651	0	A	202915651	G	A	202915651	3	1	88	1	0	0	0	0	1	0	0	0	318	1261	44	2	801	2	ADIPOR1	1	202915651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2659	202915651	46334970	1589	9301											
CYB5R1	51706	broad.mit.edu	37	chr1	202932821	202932821	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatcttcagggactttcagGatggcccggatcagctgtag	14	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202932821G>A	ENST00000367249.4	-	7	668	c.594C>T	c.(592-594)atC>atT	p.I198I	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	198					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			GGACTTTCAGGATGGCCCGGA	0.512													False	0	False	1:202932821	0	A	202932821	G	A	202932821	2	1	88	1	0	0	0	0	0	0	0	1	4151	1164	41	2		2	CYB5R1	1	202932821	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17170	202932821	46317800	1590	9302											
CYB5R1	51706	broad.mit.edu	37	chr1	202934626	202934626	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggtgcacacccttcaggtaGaccttacaagacagagagaa	11	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202934626G>T	ENST00000367249.4	-	5	422	c.348C>A	c.(346-348)gtC>gtA	p.V116V		NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	116	FAD-binding FR-type.				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCTTCAGGTAGACCTTACAAG	0.507													False	0	False	1:202934626	0	T	202934626	G	T	202934626	2	4	88	1	0	0	0	0	0	0	0	1	4151	929	33	3		3	CYB5R1	1	202934626	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1805	202934626	46315995	1591	9303											
PPFIA4	8497	broad.mit.edu	37	chr1	203033018	203033018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatggctacccagcctgggGctcccgcagtaccgcagcta	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203033018G>A	ENST00000367240.2	+	24	3401	c.2874G>A	c.(2872-2874)ggG>ggA	p.G958G	PPFIA4_ENST00000295706.4_Silent_p.G464G|PPFIA4_ENST00000599966.1_Silent_p.G464G|PPFIA4_ENST00000272198.6_Silent_p.G473G|PPFIA4_ENST00000414050.2_Silent_p.G686G|PPFIA4_ENST00000447715.2_Silent_p.G957G			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	473					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCAGCCTGGGGCTCCCGCAGT	0.592													False	0	True	1:203033018	0	A	203033018	G	A	203033018	2	1	88	1	0	0	0	0	0	0	0	1	12381	1190	42	2		2	PPFIA4	1	203033018	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98392	203033018	46217603	1592	9304											
MYOG	4656	broad.mit.edu	37	chr1	203054860	203054860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgccggtccacggacaccGacttcctcttacacacctta	7	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203054860G>A	ENST00000241651.4	-	1	304	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	77					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CACGGACACCGACTTCCTCTT	0.672													False	0	False	1:203054860	0	A	203054860	G	A	203054860	3	1	88	1	0	0	0	0	1	0	0	0	10157	1059	37	1	456	1	MYOG	1	203054860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21842	203054860	46195761	1593	9305											
CHIT1	1118	broad.mit.edu	37	chr1	203186203	203186203	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccatgctcaggttcagaGggctgacctggttttggaac	15	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203186203G>T	ENST00000367229.1	-	11	1249	c.1215C>A	c.(1213-1215)ccC>ccA	p.P405P	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Silent_p.P396P|CHIT1_ENST00000255427.3_Silent_p.P386P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	405					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CAGGTTCAGAGGGCTGACCTG	0.562											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:203186203	0	T	203186203	G	T	203186203	2	4	88	1	0	0	0	0	0	0	0	1	3369	987	35	3		3	CHIT1	1	203186203	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131343	203186203	46064418	1594	9306											
CHIT1	1118	broad.mit.edu	37	chr1	203192262	203192262	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccatctgcctgagactcaCtgggcgattttgtccacctc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192262C>A	ENST00000367229.1	-	6	640		c.e6+1		CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Splice_Site|CHIT1_ENST00000255427.3_Splice_Site	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)						chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTGAGACTCACTGGGCGATTT	0.562													False	0	False	1:203192262	0	A	203192262	C	A	203192262	5	1	88	1	0	0	0	0	0	0	1	0	3369	579	20	3	818	3	CHIT1	1	203192262	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6059	203192262	46058359	1595	9307											
CHIT1	1118	broad.mit.edu	37	chr1	203192354	203192354	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgttccttccctgaggTctgggcttcctgctggaagg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192354T>G	ENST00000367229.1	-	6	548	c.514A>C	c.(514-516)Acc>Ccc	p.T172P	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Missense_Mutation_p.T163P|CHIT1_ENST00000255427.3_Missense_Mutation_p.T153P	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	172					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTCCCTGAGGTCTGGGCTTCC	0.612													False	0	False	1:203192354	0	G	203192354	T	G	203192354	3	3	88	1	0	0	0	0	1	0	0	0	3369	1667	58	4	910	4	CHIT1	1	203192354	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	92	203192354	46058267	1596	9308											
CHIT1	1118	broad.mit.edu	37	chr1	203192720	203192720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgtcaaagctgtatttgCgcagaaacctgatggccgag	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192720C>T	ENST00000367229.1	-	5	417	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.R119H|CHIT1_ENST00000255427.3_Missense_Mutation_p.R109H	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	128					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCTGTATTTGCGCAGAAACCT	0.567													False	0	False	1:203192720	0	T	203192720	C	T	203192720	3	4	88	1	0	0	0	0	1	0	0	0	3369	768	27	1	1045	1	CHIT1	1	203192720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	366	203192720	46057901	1597	9309											
BTG2	7832	broad.mit.edu	37	chr1	203274801	203274801	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgggcttcctctccagcCtcctgaggacccggggctgc	13	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203274801C>A	ENST00000290551.4	+	1	138	c.67C>A	c.(67-69)Ctc>Atc	p.L23I		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	23					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCTCTCCAGCCTCCTGAGGAC	0.697													False	0	False	1:203274801	0	A	203274801	C	A	203274801	3	1	88	1	0	0	0	0	1	0	0	0	1561	681	24	3	69	3	BTG2	1	203274801	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82081	203274801	45975820	1598	9310											
PRELP	5549	broad.mit.edu	37	chr1	203452334	203452334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtcacccctctgctggCtcctcccacttctcatcttg	7	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203452334C>A	ENST00000343110.2	+	2	149	c.22C>A	c.(22-24)Ctc>Atc	p.L8I		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	8					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTCTGCTGGCTCCTCCCACT	0.592													False	0	False	1:203452334	0	A	203452334	C	A	203452334	3	1	88	1	0	0	0	0	1	0	0	0	12549	797	28	3	24	3	PRELP	1	203452334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177533	203452334	45798287	1599	9311											
ATP2B4	493	broad.mit.edu	37	chr1	203678519	203678519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacagatctgaagcaggatTatcaggctgtgcgtaatgaa	11	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203678519T>C	ENST00000357681.5	+	11	2771	c.1648T>C	c.(1648-1650)Tat>Cat	p.Y550H	ATP2B4_ENST00000367219.3_Missense_Mutation_p.Y538H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Y550H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.Y550H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.Y550H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	550					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGCAGGATTATCAGGCTGT	0.542													False	0	False	1:203678519	0	C	203678519	T	C	203678519	3	2	88	1	0	0	0	0	1	0	0	0	1146	1754	61	4	1686	4	ATP2B4	1	203678519	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	226185	203678519	45572102	1600	9312											
LAX1	54900	broad.mit.edu	37	chr1	203743398	203743398	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaatggagaaggttcttcTcagatctcaaatgactatgt	9	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203743398T>G	ENST00000442561.2	+	5	1176	c.786T>G	c.(784-786)tcT>tcG	p.S262S	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Silent_p.S246S	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	262					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGGTTCTTCTCAGATCTCAA	0.488													False	0	False	1:203743398	0	G	203743398	T	G	203743398	2	3	88	1	0	0	0	0	0	0	0	1	8699	1538	54	4		4	LAX1	1	203743398	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64879	203743398	45507223	1601	9313											
ZC3H11A	9877	broad.mit.edu	37	chr1	203817479	203817479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaaagaagagaagaacCttcaggaaggaaatgaagtt	13	3	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203817479C>A	ENST00000545588.1	+	13	5394	c.1567C>A	c.(1567-1569)Ctt>Att	p.L523I	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L523I|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L523I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	523							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAGAAGAACCTTCAGGAAGG	0.303													False	0	False	1:203817479	0	A	203817479	C	A	203817479	3	1	88	1	0	0	0	0	1	0	0	0	17643	681	24	3	1613	3	ZC3H11A	1	203817479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74081	203817479	45433142	1602	9314											
SNRPE	6635	broad.mit.edu	37	chr1	203839004	203839004	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttgtttttgtgttgcaGgtcggatcatgctaaaagga	12	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203839004G>A	ENST00000414487.2	+	5	268		c.e5-1		SNRPE_ENST00000483099.1_Splice_Site|SNRPE_ENST00000367208.1_Splice_Site	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E						histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGTGTTGCAGGTCGGATCAT	0.333													False	0	False	1:203839004	0	A	203839004	G	A	203839004	5	1	88	1	0	0	0	0	0	0	1	0	14947	1014	35	2	241	2	SNRPE	1	203839004	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21525	203839004	45411617	1603	9315											
SOX13	9580	broad.mit.edu	37	chr1	204091060	204091060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctgctgcacagccccCctgccccagtggtgaagagg	13	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204091060C>T	ENST00000367204.1	+	8	917	c.808C>T	c.(808-810)Cct>Tct	p.P270S		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	270	Pro-rich.			P -> L (in Ref. 4; AAD50120).	anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCACAGCCCCCCTGCCCCAGT	0.622													False	0	True	1:204091060	0	T	204091060	C	T	204091060	3	4	88	1	0	0	0	0	1	0	0	0	15024	623	22	2	834	2	SOX13	1	204091060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	252056	204091060	45159561	1604	9316											
ETNK2	55224	broad.mit.edu	37	chr1	204109165	204109165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaatgcccctctcacctGcaaactcattgaaatggttg	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204109165G>A	ENST00000367199.2	-	4	1069	c.659C>T	c.(658-660)gCa>gTa	p.A220V	ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000367202.4_Missense_Mutation_p.A289V|ETNK2_ENST00000367201.3_Missense_Mutation_p.A289V|ETNK2_ENST00000367198.2_Missense_Mutation_p.A111V			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	289							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTCTCACCTGCAAACTCATT	0.428													False	0	False	1:204109165	0	A	204109165	G	A	204109165	3	1	88	1	0	0	0	0	1	0	0	0	5306	1319	46	2	310	2	ETNK2	1	204109165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18105	204109165	45141456	1605	9317											
REN	5972	broad.mit.edu	37	chr1	204128549	204128549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtagtagaaagagaagaCgtcctcttttagcacccctt	9	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204128549C>T	ENST00000367195.2	-	5	710	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	REN_ENST00000272190.8_Missense_Mutation_p.V223I			P00797	RENI_HUMAN	renin	223					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAAGAGAAGACGTCCTCTTTT	0.562													False	0	False	1:204128549	0	T	204128549	C	T	204128549	3	4	88	1	0	0	0	0	1	0	0	0	13303	536	19	1	577	1	REN	1	204128549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19384	204128549	45122072	1606	9318											
REN	5972	broad.mit.edu	37	chr1	204128681	204128681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagggtaaggcgggcatctCcgtgacctctccaaacatct	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204128681C>T	ENST00000367195.2	-	5	578	c.535G>A	c.(535-537)Gag>Aag	p.E179K	REN_ENST00000272190.8_Missense_Mutation_p.E179K			P00797	RENI_HUMAN	renin	179					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GCGGGCATCTCCGTGACCTCT	0.572													False	0	False	1:204128681	0	T	204128681	C	T	204128681	3	4	88	1	0	0	0	0	1	0	0	0	13303	864	30	2	709	2	REN	1	204128681	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132	204128681	45121940	1607	9319											
REN	5972	broad.mit.edu	37	chr1	204130425	204130425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttaggtctcaccacagGcagtgtagagacggctgcac	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204130425G>A	ENST00000367195.2	-	3	411	c.368C>T	c.(367-369)gCc>gTc	p.A123V	REN_ENST00000272190.8_Missense_Mutation_p.A123V			P00797	RENI_HUMAN	renin	123					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CTCACCACAGGCAGTGTAGAG	0.582													False	0	False	1:204130425	0	A	204130425	G	A	204130425	3	1	88	1	0	0	0	0	1	0	0	0	13303	1203	42	2	884	2	REN	1	204130425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1744	204130425	45120196	1608	9320											
KISS1	3814	broad.mit.edu	37	chr1	204159862	204159862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagtagcagctggcttcCtctcggtgcacggcaggctc	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204159862C>T	ENST00000367194.4	-	3	315	c.167G>A	c.(166-168)aGg>aAg	p.R56K		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	56					cytoskeleton organization	extracellular region	protein binding			large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		AGCTGGCTTCCTCTCGGTGCA	0.726													False	0	False	1:204159862	0	T	204159862	C	T	204159862	3	4	88	1	0	0	0	0	1	0	0	0	8377	681	24	2	253	2	KISS1	1	204159862	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29437	204159862	45090759	1609	9321											
PPP1R15B	84919	broad.mit.edu	37	chr1	204378920	204378920	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcactagattcccagtcatcTtcctccccagaactatgctc	5	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204378920T>G	ENST00000367188.4	-	1	1999	c.1620A>C	c.(1618-1620)gaA>gaC	p.E540D	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	540					regulation of translation			p.E540D(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CCCAGTCATCTTCCTCCCCAG	0.458													False	0	False	1:204378920	0	G	204378920	T	G	204378920	3	3	88	1	0	0	0	0	1	0	0	0	12438	1606	56	4	529	4	PPP1R15B	1	204378920	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	219058	204378920	44871701	1610	9322											
PIK3C2B	5287	broad.mit.edu	37	chr1	204394128	204394128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgctcagctggagctccCgctgctgcaggtcacccttg	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204394128C>T	ENST00000367187.3	-	34	5313	c.4757G>A	c.(4756-4758)cGg>cAg	p.R1586Q	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1558Q	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1586	C2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTGGAGCTCCCGCTGCTGCAG	0.572													False	0	True	1:204394128	0	T	204394128	C	T	204394128	3	4	88	1	0	0	0	0	1	0	0	0	11979	652	23	1	151	1	PIK3C2B	1	204394128	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15208	204394128	44856493	1611	9323											
PIK3C2B	5287	broad.mit.edu	37	chr1	204402964	204402964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggtgtgcttgcgaatgAggttgtaggcttggcagcaa	18	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204402964A>C	ENST00000367187.3	-	26	4356	c.3800T>G	c.(3799-3801)cTc>cGc	p.L1267R	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L1239R	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1267	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTTGCGAATGAGGTTGTAGGC	0.502													False	0	False	1:204402964	0	C	204402964	A	C	204402964	3	2	88	1	0	0	0	0	1	0	0	0	11979	304	11	4	1140	4	PIK3C2B	1	204402964	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8836	204402964	44847657	1612	9324											
PIK3C2B	5287	broad.mit.edu	37	chr1	204403006	204403006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaacaaaatcatggaagCggctggaaggcttgtcaccc	12	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204403006C>T	ENST00000367187.3	-	26	4314	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1225H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1253	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATCATGGAAGCGGCTGGAAGG	0.557													False	0	False	1:204403006	0	T	204403006	C	T	204403006	3	4	88	1	0	0	0	0	1	0	0	0	11979	768	27	1	1182	1	PIK3C2B	1	204403006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	204403006	44847615	1613	9325											
PIK3C2B	5287	broad.mit.edu	37	chr1	204409347	204409347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccggtggagaagcagcGgaagatgaccatgcgcatgt	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204409347G>A	ENST00000367187.3	-	23	3908	c.3352C>T	c.(3352-3354)Cgc>Tgc	p.R1118C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1090C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1118	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGAAGCAGCGGAAGATGACC	0.597													False	0	False	1:204409347	0	A	204409347	G	A	204409347	3	1	88	1	0	0	0	0	1	0	0	0	11979	1116	39	1	1600	1	PIK3C2B	1	204409347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6341	204409347	44841274	1614	9326											
PIK3C2B	5287	broad.mit.edu	37	chr1	204409450	204409450	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgaaggtcgtccccacaCtggatggagggagaaagtga	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204409450C>T	ENST00000367187.3	-	23	3806		c.e23-1		PIK3C2B_ENST00000424712.2_Splice_Site	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta						cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CGTCCCCACACTGGATGGAGG	0.552													False	0	True	1:204409450	0	T	204409450	C	T	204409450	5	4	88	1	0	0	0	0	0	0	1	0	11979	579	20	2	1703	2	PIK3C2B	1	204409450	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103	204409450	44841171	1615	9327											
PIK3C2B	5287	broad.mit.edu	37	chr1	204416604	204416604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatgtctttaagcttgcGctggtcttcttcccggaggc	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204416604G>A	ENST00000367187.3	-	16	3005	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R817C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	817					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTAAGCTTGCGCTGGTCTTCT	0.552													False	0	False	1:204416604	0	A	204416604	G	A	204416604	3	1	88	1	0	0	0	0	1	0	0	0	11979	1087	38	1	2531	1	PIK3C2B	1	204416604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7154	204416604	44834017	1616	9328											
PIK3C2B	5287	broad.mit.edu	37	chr1	204426936	204426936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctcaggggtttccacggCggccagggcgttgcagatgg	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204426936C>T	ENST00000367187.3	-	10	2189	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A545T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	545					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTTTCCACGGCGGCCAGGGCG	0.632													False	0	False	1:204426936	0	T	204426936	C	T	204426936	3	4	88	1	0	0	0	0	1	0	0	0	11979	768	27	1	3371	1	PIK3C2B	1	204426936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10332	204426936	44823685	1617	9329											
PIK3C2B	5287	broad.mit.edu	37	chr1	204429749	204429749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcaatgtcaaacttgcGgcagtattggatgtactcat	9	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204429749G>A	ENST00000367187.3	-	7	1907	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R451C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	451					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R451C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCAAACTTGCGGCAGTATTGG	0.562													False	0	False	1:204429749	0	A	204429749	G	A	204429749	3	1	88	1	0	0	0	0	1	0	0	0	11979	1116	39	1	3665	1	PIK3C2B	1	204429749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2813	204429749	44820872	1618	9330											
LRRN2	10446	broad.mit.edu	37	chr1	204587617	204587617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttagtgtcagcccccaccaGgttctgggccacacaggtgt	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204587617G>T	ENST00000367175.1	-	1	3716	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	LRRN2_ENST00000367176.3_Missense_Mutation_p.L502M|LRRN2_ENST00000367177.3_Missense_Mutation_p.L502M			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	502	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCCCCCACCAGGTTCTGGGCC	0.652													False	0	False	1:204587617	0	T	204587617	G	T	204587617	3	4	88	1	0	0	0	0	1	0	0	0	9097	991	35	3	641	3	LRRN2	1	204587617	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157868	204587617	44663004	1619	9331											
LRRN2	10446	broad.mit.edu	37	chr1	204587774	204587774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatctcgggttcgggttcGgccagtgcccggcaatgcag	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204587774G>A	ENST00000367175.1	-	1	3559	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	LRRN2_ENST00000367176.3_Silent_p.A449A|LRRN2_ENST00000367177.3_Silent_p.A449A			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	449	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTTCGGGTTCGGCCAGTGCCC	0.642													False	0	False	1:204587774	0	A	204587774	G	A	204587774	2	1	88	1	0	0	0	0	0	0	0	1	9097	1103	39	1		1	LRRN2	1	204587774	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157	204587774	44662847	1620	9332											
LRRN2	10446	broad.mit.edu	37	chr1	204588892	204588892	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggacaatgctgttgctctGcaggagcagggtctgtgtgc	15	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204588892G>A	ENST00000367175.1	-	1	2441	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	77					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTGTTGCTCTGCAGGAGCAGG	0.617													False	0	False	1:204588892	0	A	204588892	G	A	204588892	4	1	88	1	0	0	0	0	0	1	0	0	9097	1328	46	2	1916	2	LRRN2	1	204588892	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1118	204588892	44661729	1621	9333											
NFASC	23114	broad.mit.edu	37	chr1	204938111	204938111	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcggtgagagtaaaggGtacgttgtgtgtatttatca	13	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204938111G>A	ENST00000367172.4	+	10	1331		c.e10+1		NFASC_ENST00000403080.1_Splice_Site|NFASC_ENST00000367169.4_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000404907.1_Splice_Site|NFASC_ENST00000404076.1_Splice_Site|NFASC_ENST00000513543.1_Splice_Site|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000539706.1_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000360049.4_Splice_Site|NFASC_ENST00000338515.6_Splice_Site|NFASC_ENST00000401399.1_Splice_Site			O94856	NFASC_HUMAN	neurofascin						axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAGTAAAGGGTACGTTGTGT	0.522													False	0	True	1:204938111	0	A	204938111	G	A	204938111	5	1	88	1	0	0	0	0	0	0	1	0	10427	1275	44	2	1089	2	NFASC	1	204938111	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	349219	204938111	44312510	1622	9334											
NFASC	23114	broad.mit.edu	37	chr1	204948168	204948168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcggctgacctggatccCcggggatgctaacaacagcc	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204948168C>T	ENST00000367172.4	+	18	2277	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L	NFASC_ENST00000367169.4_Missense_Mutation_p.P650L|NFASC_ENST00000367170.4_Missense_Mutation_p.P650L|NFASC_ENST00000338586.6_Missense_Mutation_p.P650L|NFASC_ENST00000404907.1_Missense_Mutation_p.P646L|NFASC_ENST00000404076.1_Missense_Mutation_p.P629L|NFASC_ENST00000513543.1_Missense_Mutation_p.P646L|NFASC_ENST00000339876.6_Missense_Mutation_p.P650L|NFASC_ENST00000539706.1_Missense_Mutation_p.P646L|NFASC_ENST00000367171.4_Missense_Mutation_p.P635L|NFASC_ENST00000360049.4_Missense_Mutation_p.P646L|NFASC_ENST00000338515.6_Missense_Mutation_p.P650L|NFASC_ENST00000401399.1_Missense_Mutation_p.P650L			O94856	NFASC_HUMAN	neurofascin	650	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCTGGATCCCCGGGGATGCT	0.642													False	0	True	1:204948168	0	T	204948168	C	T	204948168	3	4	88	1	0	0	0	0	1	0	0	0	10427	623	22	2	2095	2	NFASC	1	204948168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10057	204948168	44302453	1623	9335											
NFASC	23114	broad.mit.edu	37	chr1	204948557	204948557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaccattccaagtacccCggcagcgttaactcagccgt	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204948557C>T	ENST00000367172.4	+	19	2374	c.2046C>T	c.(2044-2046)ccC>ccT	p.P682P	NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000404907.1_Silent_p.P678P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000339876.6_Silent_p.P682P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000401399.1_Silent_p.P682P			O94856	NFASC_HUMAN	neurofascin	682	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.P678P(3)|p.P682P(3)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAAGTACCCCGGCAGCGTTA	0.572													False	0	True	1:204948557	0	T	204948557	C	T	204948557	2	4	88	1	0	0	0	0	0	0	0	1	10427	639	23	1		1	NFASC	1	204948557	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	389	204948557	44302064	1624	9336											
NFASC	23114	broad.mit.edu	37	chr1	204985538	204985538	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggactatggcgagggtggCgagggtcagttcaatgaaga	18	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204985538C>T	ENST00000367172.4	+	32	4243	c.3915C>T	c.(3913-3915)ggC>ggT	p.G1305G	NFASC_ENST00000367169.4_Silent_p.G1029G|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367170.4_Silent_p.G1226G|NFASC_ENST00000338586.6_Silent_p.G1182G|NFASC_ENST00000404907.1_Silent_p.G1132G|NFASC_ENST00000404076.1_Silent_p.G1115G|NFASC_ENST00000513543.1_Silent_p.G1127G|NFASC_ENST00000339876.6_Silent_p.G1198G|NFASC_ENST00000539706.1_Silent_p.G1132G|NFASC_ENST00000367171.4_Silent_p.G1290G|NFASC_ENST00000360049.4_Silent_p.G1127G|NFASC_ENST00000338515.6_Silent_p.G1215G|NFASC_ENST00000401399.1_Silent_p.G1198G			O94856	NFASC_HUMAN	neurofascin	1305					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCGAGGGTGGCGAGGGTCAGT	0.572													False	0	False	1:204985538	0	T	204985538	C	T	204985538	2	4	88	1	0	0	0	0	0	0	0	1	10427	755	27	1		1	NFASC	1	204985538	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36981	204985538	44265083	1625	9337											
CNTN2	6900	broad.mit.edu	37	chr1	205027766	205027766	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggggggtgatgttgccCtgtaacccacctgcccacta	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205027766C>A	ENST00000331830.4	+	5	746	c.462C>A	c.(460-462)ccC>ccA	p.P154P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	154	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGATGTTGCCCTGTAACCCAC	0.597													False	0	True	1:205027766	0	A	205027766	C	A	205027766	2	1	88	1	0	0	0	0	0	0	0	1	3664	668	24	3		3	CNTN2	1	205027766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42228	205027766	44222855	1626	9338											
CNTN2	6900	broad.mit.edu	37	chr1	205034326	205034326	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggacctcaccttcacctGgaccctggacgacttcccca	7	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205034326G>A	ENST00000331830.4	+	13	1915	c.1631G>A	c.(1630-1632)tGg>tAg	p.W544*		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	544	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCTTCACCTGGACCCTGGAC	0.582													False	0	True	1:205034326	0	A	205034326	G	A	205034326	4	1	88	1	0	0	0	0	0	1	0	0	3664	1357	47	2	1677	2	CNTN2	1	205034326	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6560	205034326	44216295	1627	9339											
CNTN2	6900	broad.mit.edu	37	chr1	205039089	205039089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtctacagcaacgagagCgtccggccctacacgccctt	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205039089C>T	ENST00000331830.4	+	18	2615	c.2331C>T	c.(2329-2331)agC>agT	p.S777S		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	777	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCAACGAGAGCGTCCGGCCCT	0.647													False	0	False	1:205039089	0	T	205039089	C	T	205039089	2	4	88	1	0	0	0	0	0	0	0	1	3664	767	27	1		1	CNTN2	1	205039089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4763	205039089	44211532	1628	9340											
DSTYK	25778	broad.mit.edu	37	chr1	205156672	205156672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccctgatgagcaaccagCgtgtgcactagttcatactg	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205156672C>T	ENST00000367162.3	-	2	558	c.528G>A	c.(526-528)acG>acA	p.T176T	DSTYK_ENST00000367160.4_Silent_p.T176T|DSTYK_ENST00000367161.3_Silent_p.T176T	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	176						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T176T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GAGCAACCAGCGTGTGCACTA	0.572													False	0	False	1:205156672	0	T	205156672	C	T	205156672	2	4	88	1	0	0	0	0	0	0	0	1	4815	755	27	1		1	DSTYK	1	205156672	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117583	205156672	44093949	1629	9341											
TMCC2	9911	broad.mit.edu	37	chr1	205210944	205210944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacagcagcagtgggggCggcagcagcgggagcagcag	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205210944C>T	ENST00000358024.3	+	2	908	c.519C>T	c.(517-519)ggC>ggT	p.G173G	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.G95G	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	173						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			gcagtgggggcggcagcagcg	0.736													False	0	True	1:205210944	0	T	205210944	C	T	205210944	2	4	88	1	0	0	0	0	0	0	0	1	16075	755	27	1		1	TMCC2	1	205210944	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54272	205210944	44039677	1630	9342											
TMCC2	9911	broad.mit.edu	37	chr1	205238374	205238374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcagcccagaccatcgcCcagctgcacaagaagctgga	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205238374C>T	ENST00000358024.3	+	3	1433	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	TMCC2_ENST00000330675.7_Silent_p.A123A|TMCC2_ENST00000329800.7_Silent_p.A108A|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.A270A	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	348						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGACCATCGCCCAGCTGCACA	0.597													False	0	True	1:205238374	0	T	205238374	C	T	205238374	2	4	88	1	0	0	0	0	0	0	0	1	16075	610	22	2		2	TMCC2	1	205238374	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27430	205238374	44012247	1631	9343											
NUAK2	81788	broad.mit.edu	37	chr1	205272760	205272760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccacagacacacagccccGcagtgggggctctgggagcc	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205272760G>A	ENST00000367157.3	-	7	1831	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	569					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R569W(1)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACACAGCCCCGCAGTGGGGGC	0.667													False	0	True	1:205272760	0	A	205272760	G	A	205272760	3	1	88	1	0	0	0	0	1	0	0	0	10781	1086	38	1	185	1	NUAK2	1	205272760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34386	205272760	43977861	1632	9344											
NUAK2	81788	broad.mit.edu	37	chr1	205275355	205275355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccattgacaatctctggCgaggcatagagggggctccc	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205275355C>T	ENST00000367157.3	-	5	777	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	217	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAATCTCTGGCGAGGCATAGA	0.537													False	0	False	1:205275355	0	T	205275355	C	T	205275355	2	4	88	1	0	0	0	0	0	0	0	1	10781	755	27	1		1	NUAK2	1	205275355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2595	205275355	43975266	1633	9345											
KLHDC8A	55220	broad.mit.edu	37	chr1	205306592	205306592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttgacacctcccacggCgaggaggcagttcttgacga	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205306592C>T	ENST00000367156.3	-	9	1804	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	KLHDC8A_ENST00000537168.1_Missense_Mutation_p.A217T|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A330T|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.A196T|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A330T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	330										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTCCCACGGCGAGGAGGCAG	0.597													False	0	False	1:205306592	0	T	205306592	C	T	205306592	3	4	88	1	0	0	0	0	1	0	0	0	8412	768	27	1	68	1	KLHDC8A	1	205306592	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31237	205306592	43944029	1634	9346											
KLHDC8A	55220	broad.mit.edu	37	chr1	205312649	205312649	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcatagacctggcccccggtCtccagcagggagcagtagac	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205312649C>T	ENST00000367156.3	-	5	900	c.84G>A	c.(82-84)gaG>gaA	p.E28E	KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Silent_p.E28E|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000367155.3_Silent_p.E28E	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	28										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGCCCCCGGTCTCCAGCAGGG	0.672													False	0	False	1:205312649	0	T	205312649	C	T	205312649	2	4	88	1	0	0	0	0	0	0	0	1	8412	912	32	2		2	KLHDC8A	1	205312649	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6057	205312649	43937972	1635	9347											
LEMD1	93273	broad.mit.edu	37	chr1	205350901	205350901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctctccagctctcgAtagtctggtcttccgcgcag	8	15	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205350901A>G	ENST00000367153.4	-	6	533	c.431T>C	c.(430-432)aTc>aCc	p.I144T	LEMD1_ENST00000391936.2_Missense_Mutation_p.S97P|LEMD1_ENST00000367154.1_Missense_Mutation_p.S97P|LEMD1_ENST00000367149.3_Missense_Mutation_p.S56P|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367152.1_Missense_Mutation_p.I103T|LEMD1_ENST00000367151.2_Missense_Mutation_p.I103T	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	144						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CCAGCTCTCGATAGTCTGGTC	0.478													False	0	False	1:205350901	0	G	205350901	A	G	205350901	3	3	88	1	0	0	0	0	1	0	0	0	8770	333	12	4	41	4	LEMD1	1	205350901	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38252	205350901	43899720	1636	9348											
CDK18	5129	broad.mit.edu	37	chr1	205492385	205492385	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagaatccttggctgaattCacggagcaattcaaccagct	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205492385C>A	ENST00000360066.2	+	2	391	c.90C>A	c.(88-90)ttC>ttA	p.F30L	CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Missense_Mutation_p.F30L|CDK18_ENST00000506784.1_Missense_Mutation_p.F30L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	28							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGGCTGAATTCACGGAGCAAT	0.552													False	0	False	1:205492385	0	A	205492385	C	A	205492385	3	1	88	1	0	0	0	0	1	0	0	0	3157	825	29	3	92	3	CDK18	1	205492385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141484	205492385	43758236	1637	9349											
MFSD4	148808	broad.mit.edu	37	chr1	205553121	205553121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgatgctgctgtccaaGgagcggctgctgacctgctg	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205553121G>T	ENST00000367147.4	+	4	822	c.729G>T	c.(727-729)aaG>aaT	p.K243N	MFSD4_ENST00000539267.1_Missense_Mutation_p.K243N|MFSD4_ENST00000536357.1_Missense_Mutation_p.K156N	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	243					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGCTGTCCAAGGAGCGGCTGC	0.637													False	0	False	1:205553121	0	T	205553121	G	T	205553121	3	4	88	1	0	0	0	0	1	0	0	0	9600	991	35	3	743	3	MFSD4	1	205553121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60736	205553121	43697500	1638	9350											
SLC45A3	85414	broad.mit.edu	37	chr1	205628723	205628723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagctccaggcttagggCctggcaggaagctggtcatc	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205628723C>T	ENST00000367145.3	-	5	1596	c.1301G>A	c.(1300-1302)gGc>gAc	p.G434D	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	434					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGGCTTAGGGCCTGGCAGGAA	0.622			T	"ETV1, ETV5, ELK4, ERG"	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:205628723	0	T	205628723	C	T	205628723	3	4	88	1	0	0	0	0	1	0	0	0	14722	739	26	2	364	2	SLC45A3	1	205628723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75602	205628723	43621898	1639	9351											
RAB7L1	8934	broad.mit.edu	37	chr1	205739556	205739556	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgatatcttctgtggaatTtctcatcatcttttcaatga	5	8	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205739556T>G	ENST00000367139.3	-	6	829	c.526A>C	c.(526-528)Aat>Cat	p.N176H	RAB7L1_ENST00000235932.4_Missense_Mutation_p.N176H|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000414729.1_Missense_Mutation_p.N176H|RAB7L1_ENST00000437324.2_Missense_Mutation_p.N104H|RAB7L1_ENST00000446390.2_Missense_Mutation_p.N152H	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	176					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCTGTGGAATTTCTCATCATC	0.408													False	0	True	1:205739556	0	G	205739556	T	G	205739556	3	3	88	1	0	0	0	0	1	0	0	0	13034	1841	64	4	89	4	RAB7L1	1	205739556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110833	205739556	43511065	1640	9352											
SLC41A1	254428	broad.mit.edu	37	chr1	205779272	205779272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatggaaacagtacttgcaGcccgatggaaaaggaggtct	13	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205779272G>T	ENST00000367137.3	-	2	1312	c.298C>A	c.(298-300)Ctg>Atg	p.L100M		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	100						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGTACTTGCAGCCCGATGGAA	0.602													False	0	True	1:205779272	0	T	205779272	G	T	205779272	3	4	88	1	0	0	0	0	1	0	0	0	14709	962	34	3	1283	3	SLC41A1	1	205779272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39716	205779272	43471349	1641	9353											
SLC41A1	254428	broad.mit.edu	37	chr1	205779550	205779550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagttggtggacgtccttcGgctctggcttagaggacatg	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205779550G>A	ENST00000367137.3	-	2	1034	c.20C>T	c.(19-21)cCg>cTg	p.P7L		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	7						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GACGTCCTTCGGCTCTGGCTT	0.552											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:205779550	0	A	205779550	G	A	205779550	3	1	88	1	0	0	0	0	1	0	0	0	14709	1116	39	1	1561	1	SLC41A1	1	205779550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	205779550	43471071	1642	9354											
AVPR1B	553	broad.mit.edu	37	chr1	206225109	206225109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgctacagcctcatctgCcatgagatctgtaaaaacct	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206225109C>T	ENST00000367126.4	+	1	1134	c.669C>T	c.(667-669)tgC>tgT	p.C223C		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	223					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCTCATCTGCCATGAGATCT	0.607													False	0	False	1:206225109	0	T	206225109	C	T	206225109	2	4	88	1	0	0	0	0	0	0	0	1	1236	747	26	2		2	AVPR1B	1	206225109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	445559	206225109	43025512	1643	9355											
CTSE	1510	broad.mit.edu	37	chr1	206319192	206319192	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctccaacctctgggtcccctCtgtgtactgcactagcccag	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206319192C>A	ENST00000361052.3	+	3	435	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	CTSE_ENST00000360218.2_Missense_Mutation_p.S106Y|CTSE_ENST00000432969.2_Missense_Mutation_p.S31Y|CTSE_ENST00000358184.2_Missense_Mutation_p.S106Y			P14091	CATE_HUMAN	cathepsin E	106					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGGGTCCCCTCTGTGTACTGC	0.582													False	0	False	1:206319192	0	A	206319192	C	A	206319192	3	1	88	1	0	0	0	0	1	0	0	0	4058	913	32	3	327	3	CTSE	1	206319192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94083	206319192	42931429	1644	9356											
CTSE	1510	broad.mit.edu	37	chr1	206331211	206331211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgtgtctgtgcctgcCtgtctgacagaccttgaata	11	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206331211C>T	ENST00000360218.2	+	8	1179	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	CTSE_ENST00000361052.3_3'UTR|CTSE_ENST00000432969.2_Silent_p.L284L|CTSE_ENST00000358184.2_3'UTR	NM_148964.2	NP_683865.1	P14091	CATE_HUMAN	cathepsin E	0					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTGTGCCTGCCTGTCTGACAG	0.483													False	0	True	1:206331211	0	T	206331211	C	T	206331211	2	4	88	1	0	0	0	0	0	0	0	1	4058	680	24	2		2	CTSE	1	206331211	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12019	206331211	42919410	1645	9357											
SRGAP2	23380	broad.mit.edu	37	chr1	206632020	206632020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaaaacttttcggagtgaCagccatgggctgagcagttc	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206632020C>T	ENST00000414007.1	+	18	2139	c.2139C>T	c.(2137-2139)gaC>gaT	p.D713D	SRGAP2_ENST00000419187.2_Silent_p.D171D			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	853					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TTCGGAGTGACAGCCATGGGC	0.597													False	0	False	1:206632020	0	T	206632020	C	T	206632020	2	4	88	1	0	0	0	0	0	0	0	1	15228	477	17	2		2	SRGAP2	1	206632020	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	300809	206632020	42618601	1646	9358											
IKBKE	0	broad.mit.edu	37	chr1	206647703	206647703	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagctggttgctgtgaaggtCttcaacactaccagctacct	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206647703C>A	ENST00000367120.3	+	4	490	c.117C>A	c.(115-117)gtC>gtA	p.V39V	IKBKE_ENST00000537984.1_5'UTR|IKBKE_ENST00000463979.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	39	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CTGTGAAGGTCTTCAACACTA	0.582													False	0	False	1:206647703	0	A	206647703	C	A	206647703	2	1	88	1	0	0	0	0	0	0	0	1	7662	900	32	3		3	IKBKE	1	206647703	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15683	206647703	42602918	1647	9359											
IKBKE	0	broad.mit.edu	37	chr1	206664154	206664154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtctgtttcctccagggCttggctacaacgaggagcag	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206664154C>T	ENST00000367120.3	+	17	2069	c.1696C>T	c.(1696-1698)Ctt>Ttt	p.L566F	IKBKE_ENST00000537984.1_Missense_Mutation_p.L481F	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	566					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TCCTCCAGGGCTTGGCTACAA	0.542											OREG0014171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:206664154	0	T	206664154	C	T	206664154	3	4	88	1	0	0	0	0	1	0	0	0	7662	797	28	2	1754	2	IKBKE	1	206664154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16451	206664154	42586467	1648	9360											
RASSF5	83593	broad.mit.edu	37	chr1	206730965	206730965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaggaactggaagactgcTtcttcactgctaagactacc	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206730965T>C	ENST00000304534.8	+	1	473	c.64T>C	c.(64-66)Ttc>Ctc	p.F22L	RASSF5_ENST00000367117.3_Intron|RASSF5_ENST00000355294.4_Intron	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	0					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGAAGACTGCTTCTTCACTGC	0.527													False	0	False	1:206730965	0	C	206730965	T	C	206730965	3	2	88	1	0	0	0	0	1	0	0	0	13168	1609	56	4	653	4	RASSF5	1	206730965	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	66811	206730965	42519656	1649	9361											
DYRK3	8444	broad.mit.edu	37	chr1	206821546	206821546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaataagattattcactgcGatctgaagccagaaaacatt	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206821546G>A	ENST00000367106.1	+	4	1416	c.943G>A	c.(943-945)Gat>Aat	p.D315N	DYRK3_ENST00000367109.2_Missense_Mutation_p.D335N|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.D315N			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	335	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TATTCACTGCGATCTGAAGCC	0.458													False	0	False	1:206821546	0	A	206821546	G	A	206821546	3	1	88	1	0	0	0	0	1	0	0	0	4887	1058	37	1	1034	1	DYRK3	1	206821546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90581	206821546	42429075	1650	9362											
FAIM3	9214	broad.mit.edu	37	chr1	207087198	207087198	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgtcactttctgtcagCtgtgttacctccactaggaa	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207087198C>A	ENST00000367091.3	-	2	422	c.279G>T	c.(277-279)caG>caT	p.Q93H	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.Q93H|FAIM3_ENST00000442471.2_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	93	Ig-like.				anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TTTCTGTCAGCTGTGTTACCT	0.527													False	0	False	1:207087198	0	A	207087198	C	A	207087198	3	1	88	1	0	0	0	0	1	0	0	0	5413	796	28	3	921	3	FAIM3	1	207087198	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	265652	207087198	42163423	1651	9363											
FAIM3	9214	broad.mit.edu	37	chr1	207087392	207087392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggtaactgatccgcccaGctccccctctacctttactt	6	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207087392G>T	ENST00000367091.3	-	2	228	c.85C>A	c.(85-87)Ctg>Atg	p.L29M	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.L29M|FAIM3_ENST00000442471.2_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	29					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GATCCGCCCAGCTCCCCCTCT	0.537													False	0	False	1:207087392	0	T	207087392	G	T	207087392	3	4	88	1	0	0	0	0	1	0	0	0	5413	962	34	3	1115	3	FAIM3	1	207087392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194	207087392	42163229	1652	9364											
FCAMR	83953	broad.mit.edu	37	chr1	207131926	207131926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagagagtcatcctggaGcatctttctttccacatggg	11	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207131926G>A	ENST00000324852.4	-	8	2143	c.1669C>T	c.(1669-1671)Ctc>Ttc	p.L557F	FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_3'UTR|FCAMR_ENST00000450945.2_3'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	512						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCATCCTGGAGCATCTTTCTT	0.537													False	0	False	1:207131926	0	A	207131926	G	A	207131926	3	1	88	1	0	0	0	0	1	0	0	0	5812	971	34	2	68	2	FCAMR	1	207131926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44534	207131926	42118695	1653	9365											
C1orf116	79098	broad.mit.edu	37	chr1	207195513	207195513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatctttccccgtgcccagGgaggccgggcggggccgaga	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207195513G>A	ENST00000359470.5	-	4	1845	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	C1orf116_ENST00000461135.2_Silent_p.S286S	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	532						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CCGTGCCCAGGGAGGCCGGGC	0.592													False	0	True	1:207195513	0	A	207195513	G	A	207195513	2	1	88	1	0	0	0	0	0	0	0	1	2004	1219	43	2		2	C1orf116	1	207195513	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63587	207195513	42055108	1654	9366											
C1orf116	79098	broad.mit.edu	37	chr1	207198256	207198256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagtgggttgggttatggGcagtgctcggaaacctctgg	19	6	1	0	rs706846		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207198256G>A	ENST00000359470.5	-	3	508	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	87			P -> S (in dbSNP:rs706846).			cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TGGGTTATGGGCAGTGCTCGG	0.592													False	0	True	1:207198256	0	A	207198256	G	A	207198256	3	1	88	1	0	0	0	0	1	0	0	0	2004	1203	42	2	1554	2	C1orf116	1	207198256	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2743	207198256	42052365	1655	9367											
YOD1	55432	broad.mit.edu	37	chr1	207222956	207222956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttgtctgctgggaccacGgttctggtaagcacaggcaa	14	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207222956G>A	ENST00000367084.1	-	4	528	c.324C>T	c.(322-324)acC>acT	p.T108T	YOD1_ENST00000391927.1_Silent_p.T108T|YOD1_ENST00000315927.4_Silent_p.T152T|PFKFB2_ENST00000411990.2_5'UTR	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	152	UBX-like.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTGGGACCACGGTTCTGGTAA	0.493													False	0	False	1:207222956	0	A	207222956	G	A	207222956	2	1	88	1	0	0	0	0	0	0	0	1	17572	1103	39	1		1	YOD1	1	207222956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24700	207222956	42027665	1656	9368											
PFKFB2	5208	broad.mit.edu	37	chr1	207238421	207238421	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgactatcctgaaaggaacaGagagaacgtgatggaggact	13	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207238421G>T	ENST00000367080.3	+	8	672	c.548G>T	c.(547-549)aGa>aTa	p.R183I	PFKFB2_ENST00000541914.1_5'UTR|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R183I|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R150I|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R85I	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	183	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GAAAGGAACAGAGAGAACGTG	0.463													False	0	True	1:207238421	0	T	207238421	G	T	207238421	3	4	88	1	0	0	0	0	1	0	0	0	11830	942	33	3	574	3	PFKFB2	1	207238421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15465	207238421	42012200	1657	9369											
CD55	1604	broad.mit.edu	37	chr1	207497997	207497997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcggtactgttgtggaatAtgagtgccgtccaggttaca	13	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207497997A>G	ENST00000367064.3	+	3	638	c.380A>G	c.(379-381)tAt>tGt	p.Y127C	CD55_ENST00000314754.8_Missense_Mutation_p.Y127C|CD55_ENST00000367063.2_Missense_Mutation_p.Y127C|CD55_ENST00000367065.5_Missense_Mutation_p.Y127C|CD55_ENST00000391921.4_Intron|CD55_ENST00000391920.4_Missense_Mutation_p.Y127C|CD55_ENST00000367062.4_Missense_Mutation_p.Y127C|CD55_ENST00000367067.4_Intron	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	127	Sushi 2.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GTTGTGGAATATGAGTGCCGT	0.413													False	0	False	1:207497997	0	G	207497997	A	G	207497997	3	3	88	1	0	0	0	0	1	0	0	0	3047	449	16	4	390	4	CD55	1	207497997	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	259576	207497997	41752624	1658	9370											
CR2	1380	broad.mit.edu	37	chr1	207643069	207643069	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcccatcacctccccctattCtcaatggaagacatataggc	6	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207643069C>T	ENST00000367057.3	+	6	1036	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F	CR2_ENST00000458541.2_Missense_Mutation_p.L283F|CR2_ENST00000367058.3_Missense_Mutation_p.L283F|CR2_ENST00000367059.3_Missense_Mutation_p.L283F|CR2_ENST00000485707.1_3'UTR	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	283	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCCCCTATTCTCAATGGAAG	0.428													False	0	False	1:207643069	0	T	207643069	C	T	207643069	3	4	88	1	0	0	0	0	1	0	0	0	3865	913	32	2	869	2	CR2	1	207643069	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145072	207643069	41607552	1659	9371											
CR2	1380	broad.mit.edu	37	chr1	207643379	207643379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtttggcttcaccttgaAgggcagcaagcaaatccgat	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207643379A>G	ENST00000367057.3	+	6	1346	c.1157A>G	c.(1156-1158)aAg>aGg	p.K386R	CR2_ENST00000458541.2_Missense_Mutation_p.K386R|CR2_ENST00000367058.3_Missense_Mutation_p.K386R|CR2_ENST00000367059.3_Missense_Mutation_p.K386R	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	386	Sushi 6.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCACCTTGAAGGGCAGCAAG	0.493													False	0	True	1:207643379	0	G	207643379	A	G	207643379	3	3	88	1	0	0	0	0	1	0	0	0	3865	72	3	4	1179	4	CR2	1	207643379	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	310	207643379	41607242	1660	9372											
CR2	1380	broad.mit.edu	37	chr1	207648341	207648341	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggacatggatcttggagCgggccttccccacagtgctt	12	11	1	0	rs139322251		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207648341C>T	ENST00000367057.3	+	14	2685	c.2496C>T	c.(2494-2496)agC>agT	p.S832S	CR2_ENST00000458541.2_Silent_p.S746S|CR2_ENST00000367058.3_Silent_p.S773S|CR2_ENST00000367059.3_Silent_p.S773S	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	901	Sushi 13.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.S832S(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GATCTTGGAGCGGGCCTTCCC	0.443													False	0	True	1:207648341	0	T	207648341	C	T	207648341	2	4	88	1	0	0	0	0	0	0	0	1	3865	767	27	1		1	CR2	1	207648341	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4962	207648341	41602280	1661	9373											
CR1	1378	broad.mit.edu	37	chr1	207669657	207669657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggagcctgtcgggccgccGgcgcccggtctccccttctg	14	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207669657G>A	ENST00000367049.4	+	1	45	c.45G>A	c.(43-45)ccG>ccA	p.P15P	CR1_ENST00000367053.1_Silent_p.P15P|CR1_ENST00000400960.2_Silent_p.P15P|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Silent_p.P15P|CR1_ENST00000367051.1_Silent_p.P15P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	15					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCGGGCCGCCGGCGCCCGGTC	0.637													False	0	False	1:207669657	0	A	207669657	G	A	207669657	2	1	88	1	0	0	0	0	0	0	0	1	3863	1103	39	1		1	CR1	1	207669657	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21316	207669657	41580964	1662	9374											
CR1	1378	broad.mit.edu	37	chr1	207696994	207696994	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccccaccatcaccaatggaGatttcattagcaccaacaga	5	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207696994G>A	ENST00000367049.4	+	5	526	c.526G>A	c.(526-528)Gat>Aat	p.D176N	CR1_ENST00000367053.1_Missense_Mutation_p.D176N|CR1_ENST00000400960.2_Missense_Mutation_p.D176N|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Missense_Mutation_p.D176N|CR1_ENST00000367051.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	176	Sushi 3.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACCAATGGAGATTTCATTAG	0.448													False	0	False	1:207696994	0	A	207696994	G	A	207696994	3	1	88	1	0	0	0	0	1	0	0	0	3863	942	33	2	544	2	CR1	1	207696994	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27337	207696994	41553627	1663	9375											
CR1L	1379	broad.mit.edu	37	chr1	207850896	207850896	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaactcagtctggacaagtgCtaaggacaagtgcaaacgta	10	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207850896C>A	ENST00000508064.2	+	2	320	c.260C>A	c.(259-261)gCt>gAt	p.A87D	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	87	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGACAAGTGCTAAGGACAAG	0.418													False	0	False	1:207850896	0	A	207850896	C	A	207850896	3	1	88	1	0	0	0	0	1	0	0	0	3864	797	28	3	266	3	CR1L	1	207850896	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153902	207850896	41399725	1664	9376											
CR1L	1379	broad.mit.edu	37	chr1	207881576	207881576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcctctcgggcaatactgCccattggagcatgaagccac	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207881576C>T	ENST00000508064.2	+	10	1442	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	461	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCAATACTGCCCATTGGAGC	0.433													False	0	True	1:207881576	0	T	207881576	C	T	207881576	3	4	88	1	0	0	0	0	1	0	0	0	3864	739	26	2	1420	2	CR1L	1	207881576	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30680	207881576	41369045	1665	9377											
CR1L	1379	broad.mit.edu	37	chr1	207891028	207891028	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgctgtgaacttcctgTtggtgctggtcagtatccgc	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207891028T>G	ENST00000508064.2	+	11	1694	c.1634T>G	c.(1633-1635)gTt>gGt	p.V545G		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	545						cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAACTTCCTGTTGGTGCTGGT	0.488													False	0	False	1:207891028	0	G	207891028	T	G	207891028	3	3	88	1	0	0	0	0	1	0	0	0	3864	1725	60	4	1676	4	CR1L	1	207891028	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9452	207891028	41359593	1666	9378											
CD46	4179	broad.mit.edu	37	chr1	207943701	207943701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagcctccagtctcaaatTatccaggttggttaactctt	6	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207943701T>C	ENST00000358170.2	+	9	1138	c.982T>C	c.(982-984)Tat>Cat	p.Y328H	CD46_ENST00000367041.1_Missense_Mutation_p.Y298H|CD46_ENST00000322918.5_Missense_Mutation_p.Y298H|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Intron|CD46_ENST00000354848.1_Missense_Mutation_p.Y313H|CD46_ENST00000322875.4_Missense_Mutation_p.Y328H|CD46_ENST00000361067.1_Intron|CD46_ENST00000357714.1_Missense_Mutation_p.Y298H|CD46_ENST00000441839.2_Missense_Mutation_p.Y313H|CD46_ENST00000360212.2_Intron|CD46_ENST00000367047.1_Missense_Mutation_p.Y265H|CD46_ENST00000367042.1_Missense_Mutation_p.Y313H	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	328					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						AGTCTCAAATTATCCAGGTTG	0.313													False	0	False	1:207943701	0	C	207943701	T	C	207943701	3	2	88	1	0	0	0	0	1	0	0	0	3041	1754	61	4	1016	4	CD46	1	207943701	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52673	207943701	41306920	1667	9379											
CD34	947	broad.mit.edu	37	chr1	208062870	208062870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcagactgggcaaggaGcagggagcatacctgggccc	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208062870G>A	ENST00000356522.4	-	5	1015	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000367036.3_Missense_Mutation_p.L74F|CD34_ENST00000537704.1_Missense_Mutation_p.L97F|CD34_ENST00000310833.7_Missense_Mutation_p.L232F	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	232					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TGGGCAAGGAGCAGGGAGCAT	0.617													False	0	False	1:208062870	0	A	208062870	G	A	208062870	3	1	88	1	0	0	0	0	1	0	0	0	3029	971	34	2	498	2	CD34	1	208062870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119169	208062870	41187751	1668	9380											
PLXNA2	5362	broad.mit.edu	37	chr1	208217871	208217871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttccttgcactccaaggCcacacgggactccagattgt	8	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208217871C>T	ENST00000367033.3	-	20	4613	c.3856G>A	c.(3856-3858)Gcc>Acc	p.A1286T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1286					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACTCCAAGGCCACACGGGAC	0.527													False	0	False	1:208217871	0	T	208217871	C	T	208217871	3	4	88	1	0	0	0	0	1	0	0	0	12189	739	26	2	1880	2	PLXNA2	1	208217871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155001	208217871	41032750	1669	9381											
PLXNA2	5362	broad.mit.edu	37	chr1	208224623	208224623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaatgctccactctggctCgatgcgctggacccgagggt	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208224623C>T	ENST00000367033.3	-	16	3896	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1047	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACTCTGGCTCGATGCGCTGG	0.597													False	0	False	1:208224623	0	T	208224623	C	T	208224623	3	4	88	1	0	0	0	0	1	0	0	0	12189	893	31	1	2613	1	PLXNA2	1	208224623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6752	208224623	41025998	1670	9382											
PLXNA2	5362	broad.mit.edu	37	chr1	208257763	208257763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgctggagctgttgaagcGcagagcggggacccggtgga	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208257763G>A	ENST00000367033.3	-	10	3017	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	754					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGTTGAAGCGCAGAGCGGGG	0.622													False	0	False	1:208257763	0	A	208257763	G	A	208257763	3	1	88	1	0	0	0	0	1	0	0	0	12189	1087	38	1	3516	1	PLXNA2	1	208257763	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33140	208257763	40992858	1671	9383											
PLXNA2	5362	broad.mit.edu	37	chr1	208266196	208266196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgagtgcagaggttgcGgtacttgcaccaatggcagc	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208266196G>A	ENST00000367033.3	-	9	2789	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	678					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGAGGTTGCGGTACTTGCAC	0.547													False	0	False	1:208266196	0	A	208266196	G	A	208266196	3	1	88	1	0	0	0	0	1	0	0	0	12189	1116	39	1	3748	1	PLXNA2	1	208266196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8433	208266196	40984425	1672	9384											
PLXNA2	5362	broad.mit.edu	37	chr1	208383704	208383704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggccacagaggtcatgCggtccctgctggtggtgtac	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208383704C>T	ENST00000367033.3	-	3	2049	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	431	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGAGGTCATGCGGTCCCTGCT	0.542													False	0	False	1:208383704	0	T	208383704	C	T	208383704	3	4	88	1	0	0	0	0	1	0	0	0	12189	768	27	1	4512	1	PLXNA2	1	208383704	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117508	208383704	40866917	1673	9385											
PLXNA2	5362	broad.mit.edu	37	chr1	208390732	208390732	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgccgatgaagagcttgccaTcctcaccctcagagcgcaca	9	15	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208390732T>A	ENST00000367033.3	-	2	1293	c.536A>T	c.(535-537)gAt>gTt	p.D179V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	179	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAGCTTGCCATCCTCACCCTC	0.592													False	0	False	1:208390732	0	A	208390732	T	A	208390732	3	1	88	1	0	0	0	0	1	0	0	0	12189	1435	50	5	5272	5	PLXNA2	1	208390732	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7028	208390732	40859889	1674	9386											
CAMK1G	57172	broad.mit.edu	37	chr1	209783265	209783265	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtgagaaggccttgaGtcatccctggtgagtgagac	13	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209783265G>T	ENST00000009105.1	+	9	1063	c.818G>T	c.(817-819)aGt>aTt	p.S273I	CAMK1G_ENST00000361322.2_Missense_Mutation_p.S273I|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	273	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AAGGCCTTGAGTCATCCCTGG	0.498													False	0	False	1:209783265	0	T	209783265	G	T	209783265	3	4	88	1	0	0	0	0	1	0	0	0	2618	1029	36	3	848	3	CAMK1G	1	209783265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1392533	209783265	39467356	1675	9387											
LAMB3	3914	broad.mit.edu	37	chr1	209796389	209796389	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcagccacctgccccgCcatcaagaaggccccaccgg	9	20	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209796389C>A	ENST00000391911.1	-	16	2883	c.2494G>T	c.(2494-2496)Gcg>Tcg	p.A832S	LAMB3_ENST00000356082.4_Missense_Mutation_p.A832S|LAMB3_ENST00000367030.3_Missense_Mutation_p.A832S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	832	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACCTGCCCCGCCATCAAGAAG	0.652													False	0	False	1:209796389	0	A	209796389	C	A	209796389	3	1	88	1	0	0	0	0	1	0	0	0	8663	739	26	3	1052	3	LAMB3	1	209796389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13124	209796389	39454232	1676	9388											
HSD11B1	3290	broad.mit.edu	37	chr1	209879197	209879197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattgtcacaggggccagcAaagggatcggaagagagatg	16	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209879197A>G	ENST00000367028.2	+	3	299	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	HSD11B1_ENST00000367027.3_Missense_Mutation_p.K44E|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Missense_Mutation_p.K44E	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	44					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	AGGGGCCAGCAAAGGGATCGG	0.507													False	0	True	1:209879197	0	G	209879197	A	G	209879197	3	3	88	1	0	0	0	0	1	0	0	0	7422	131	5	4	136	4	HSD11B1	1	209879197	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	82808	209879197	39371424	1677	9389											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209935961	209935961	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacaggctgggggcctTcctccacaggacactcccat	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209935961T>G	ENST00000367024.1	+	4	963	c.447T>G	c.(445-447)ctT>ctG	p.L149L	TRAF3IP3_ENST00000367025.3_Silent_p.L149L|TRAF3IP3_ENST00000010338.4_Silent_p.L129L|TRAF3IP3_ENST00000367026.3_Silent_p.L129L|TRAF3IP3_ENST00000400959.3_Silent_p.L129L			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	149						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CTGGGGGCCTTCCTCCACAGG	0.592													False	0	False	1:209935961	0	G	209935961	T	G	209935961	2	3	88	1	0	0	0	0	0	0	0	1	16525	1770	62	4		4	TRAF3IP3	1	209935961	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56764	209935961	39314660	1678	9390											
C1orf74	148304	broad.mit.edu	37	chr1	209956186	209956186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcagagggccacagccGgcagtgtgactatctcagag	13	10	2	3	rs150951869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956186G>A	ENST00000294811.1	-	2	1050	c.794C>T	c.(793-795)cCg>cTg	p.P265L		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	265										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GGCCACAGCCGGCAGTGTGAC	0.468													False	0	False	1:209956186	0	A	209956186	G	A	209956186	3	1	88	1	0	0	0	0	1	0	0	0	2074	1116	39	1	19	1	C1orf74	1	209956186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20225	209956186	39294435	1679	9391											
C1orf74	148304	broad.mit.edu	37	chr1	209956266	209956266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggttctgaggtccttctcCcaggtgtttagaatgtccct	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956266C>A	ENST00000294811.1	-	2	970	c.714G>T	c.(712-714)tgG>tgT	p.W238C		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	238										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GGTCCTTCTCCCAGGTGTTTA	0.512													False	0	True	1:209956266	0	A	209956266	C	A	209956266	3	1	88	1	0	0	0	0	1	0	0	0	2074	624	22	3	99	3	C1orf74	1	209956266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	209956266	39294355	1680	9392											
C1orf74	148304	broad.mit.edu	37	chr1	209956447	209956447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtatagggaacaggatagCccaggaggatcccaaataca	12	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956447C>T	ENST00000294811.1	-	2	789	c.533G>A	c.(532-534)gGc>gAc	p.G178D		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	178										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		AACAGGATAGCCCAGGAGGAT	0.507													False	0	True	1:209956447	0	T	209956447	C	T	209956447	3	4	88	1	0	0	0	0	1	0	0	0	2074	739	26	2	280	2	C1orf74	1	209956447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	181	209956447	39294174	1681	9393											
IRF6	3664	broad.mit.edu	37	chr1	209963951	209963951	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtacaccttgcactggcAcagcctgatggcataaatgg	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209963951A>G	ENST00000367021.3	-	7	1121	c.949T>C	c.(949-951)Tgc>Cgc	p.C317R	IRF6_ENST00000542854.1_Missense_Mutation_p.C222R	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	317					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TTGCACTGGCACAGCCTGATG	0.512										HNSCC(57;0.16)			False	0	False	1:209963951	0	G	209963951	A	G	209963951	3	3	88	1	0	0	0	0	1	0	0	0	7884	159	6	4	466	4	IRF6	1	209963951	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7504	209963951	39286670	1682	9394											
IRF6	3664	broad.mit.edu	37	chr1	209965773	209965773	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggcgccatgggagaacCtaaaacaaaagcatatggtg	13	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209965773C>T	ENST00000367021.3	-	6	681		c.e6-1		IRF6_ENST00000542854.1_Splice_Site	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.?(2)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATGGGAGAACCTAAAACAAAA	0.537										HNSCC(57;0.16)			False	0	False	1:209965773	0	T	209965773	C	T	209965773	5	4	88	1	0	0	0	0	0	0	1	0	7884	695	24	2	911	2	IRF6	1	209965773	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1822	209965773	39284848	1683	9395											
IRF6	3664	broad.mit.edu	37	chr1	209969826	209969826	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttattgagagcacagcgcagCtgggccttccatttagctgg	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209969826C>G	ENST00000367021.3	-	4	418	c.246G>C	c.(244-246)caG>caC	p.Q82H	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	82			Q -> K (in PPS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CACAGCGCAGCTGGGCCTTCC	0.512										HNSCC(57;0.16)			False	0	False	1:209969826	0	G	209969826	C	G	209969826	3	3	88	1	0	0	0	0	1	0	0	0	7884	796	28	5	1181	5	IRF6	1	209969826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4053	209969826	39280795	1684	9396											
SYT14	255928	broad.mit.edu	37	chr1	210273403	210273403	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttcctaaaccttttgAtcctgagccagaagctaaat	7	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210273403A>C	ENST00000537238.1	+	7	1038	c.647A>C	c.(646-648)gAt>gCt	p.D216A	SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.D254A|SYT14_ENST00000472886.1_Missense_Mutation_p.D254A|SYT14_ENST00000422431.1_Missense_Mutation_p.D299A|SYT14_ENST00000367015.1_Missense_Mutation_p.D216A|SYT14_ENST00000534859.1_Missense_Mutation_p.D254A|SYT14_ENST00000399639.2_Missense_Mutation_p.D254A	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	254						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAACCTTTTGATCCTGAGCCA	0.383													False	0	False	1:210273403	0	C	210273403	A	C	210273403	3	2	88	1	0	0	0	0	1	0	0	0	15552	333	12	4	922	4	SYT14	1	210273403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	303577	210273403	38977218	1685	9397											
SERTAD4	56256	broad.mit.edu	37	chr1	210415304	210415304	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcatcttcctcttcCtctccccctttgcctttacc	1	21	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415304C>A	ENST00000367012.3	+	4	923	c.693C>A	c.(691-693)tcC>tcA	p.S231S	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	231	Ser-rich.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		cttcctcttcctctccccctT	0.488													False	0	True	1:210415304	0	A	210415304	C	A	210415304	2	1	88	1	0	0	0	0	0	0	0	1	14204	668	24	3		3	SERTAD4	1	210415304	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141901	210415304	38835317	1686	9398											
SERTAD4	56256	broad.mit.edu	37	chr1	210415325	210415325	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccccctttgcctttaccGagttgttcccgccaggtgga	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415325G>A	ENST00000367012.3	+	4	944	c.714G>A	c.(712-714)ccG>ccA	p.P238P	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	238	Ser-rich.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGCCTTTACCGAGTTGTTCCC	0.488													False	0	False	1:210415325	0	A	210415325	G	A	210415325	2	1	88	1	0	0	0	0	0	0	0	1	14204	1045	37	1		1	SERTAD4	1	210415325	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	210415325	38835296	1687	9399											
SERTAD4	56256	broad.mit.edu	37	chr1	210415340	210415340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccgagttgttcccgccaGgtggattttgatgtaggtag	13	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415340G>A	ENST00000367012.3	+	4	959	c.729G>A	c.(727-729)caG>caA	p.Q243Q	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	243							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GTTCCCGCCAGGTGGATTTTG	0.498													False	0	False	1:210415340	0	A	210415340	G	A	210415340	2	1	88	1	0	0	0	0	0	0	0	1	14204	991	35	2		2	SERTAD4	1	210415340	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	210415340	38835281	1688	9400											
HHAT	55733	broad.mit.edu	37	chr1	210796957	210796957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgatcctgtccaacctgGtatttcttgggggcaatgag	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210796957G>T	ENST00000367010.1	+	11	1560	c.1333G>T	c.(1333-1335)Gta>Tta	p.V445L	HHAT_ENST00000545154.1_Missense_Mutation_p.V446L|HHAT_ENST00000391905.3_Missense_Mutation_p.V445L|HHAT_ENST00000545781.1_Missense_Mutation_p.V382L|HHAT_ENST00000537898.1_Missense_Mutation_p.V380L|HHAT_ENST00000367009.1_Missense_Mutation_p.V135L|HHAT_ENST00000308852.6_Missense_Mutation_p.V400L|HHAT_ENST00000261458.3_Missense_Mutation_p.V445L|HHAT_ENST00000413764.2_Missense_Mutation_p.V445L|HHAT_ENST00000541565.1_Missense_Mutation_p.V308L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	445					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCCAACCTGGTATTTCTTGG	0.483													False	0	False	1:210796957	0	T	210796957	G	T	210796957	3	4	88	1	0	0	0	0	1	0	0	0	7136	1261	44	3	1469	3	HHAT	1	210796957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	381617	210796957	38453664	1689	9401											
KCNH1	3756	broad.mit.edu	37	chr1	210857251	210857251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgctggccttcacgaggCtgtggttggcggaggcatgc	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210857251C>T	ENST00000367007.4	-	11	2430	c.2261G>A	c.(2260-2262)aGc>aAc	p.S754N	KCNH1_ENST00000271751.4_Missense_Mutation_p.S781N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	781	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTTCACGAGGCTGTGGTTGGC	0.632													False	0	False	1:210857251	0	T	210857251	C	T	210857251	3	4	88	1	0	0	0	0	1	0	0	0	8081	797	28	2	631	2	KCNH1	1	210857251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60294	210857251	38393370	1690	9402											
KCNH1	3756	broad.mit.edu	37	chr1	210971047	210971047	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctccttgaacaccttgCggttcaggtgcacgcagatg	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210971047C>A	ENST00000367007.4	-	9	1806	c.1637G>T	c.(1636-1638)cGc>cTc	p.R546L	KCNH1_ENST00000271751.4_Missense_Mutation_p.R573L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	573					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAACACCTTGCGGTTCAGGTG	0.617													False	0	False	1:210971047	0	A	210971047	C	A	210971047	3	1	88	1	0	0	0	0	1	0	0	0	8081	768	27	3	1263	3	KCNH1	1	210971047	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113796	210971047	38279574	1691	9403											
KCNH1	3756	broad.mit.edu	37	chr1	211280608	211280608	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataaatacctgcaggtgctgCttttttgcatcacttctgcc	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211280608C>A	ENST00000367007.4	-	2	360	c.191G>T	c.(190-192)aGc>aTc	p.S64I	KCNH1_ENST00000271751.4_Missense_Mutation_p.S64I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	64	PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCAGGTGCTGCTTTTTTGCAT	0.423													False	0	True	1:211280608	0	A	211280608	C	A	211280608	3	1	88	1	0	0	0	0	1	0	0	0	8081	797	28	3	2818	3	KCNH1	1	211280608	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	309561	211280608	37970013	1692	9404											
RCOR3	55758	broad.mit.edu	37	chr1	211449613	211449613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaggcacttggcatgttGttctggcataaacataacat	8	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211449613G>A	ENST00000367005.4	+	4	336	c.195G>A	c.(193-195)ttG>ttA	p.L65L	RCOR3_ENST00000367006.4_Silent_p.L123L|RCOR3_ENST00000419091.2_Silent_p.L123L|RCOR3_ENST00000452621.2_Silent_p.L123L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	65	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TTGGCATGTTGTTCTGGCATA	0.373													False	0	False	1:211449613	0	A	211449613	G	A	211449613	2	1	88	1	0	0	0	0	0	0	0	1	13263	1368	48	2		2	RCOR3	1	211449613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169005	211449613	37801008	1693	9405											
TRAF5	7188	broad.mit.edu	37	chr1	211545602	211545602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagctcatttggaaggtgaCagattacaagatgaagaaga	11	4	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211545602C>T	ENST00000261464.5	+	11	1286	c.1232C>T	c.(1231-1233)aCa>aTa	p.T411I	TRAF5_ENST00000367004.3_Missense_Mutation_p.T411I|TRAF5_ENST00000336184.2_Missense_Mutation_p.T411I|TRAF5_ENST00000427925.2_Missense_Mutation_p.T305I	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	411	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGGAAGGTGACAGATTACAAG	0.468													False	0	False	1:211545602	0	T	211545602	C	T	211545602	3	4	88	1	0	0	0	0	1	0	0	0	16527	478	17	2	1270	2	TRAF5	1	211545602	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95989	211545602	37705019	1694	9406											
SLC30A1	7779	broad.mit.edu	37	chr1	211749594	211749594	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagatttccattcacttgTacttccactgtatcaccact	3	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211749594T>C	ENST00000367001.4	-	2	789	c.660A>G	c.(658-660)gtA>gtG	p.V220V		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	220					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CATTCACTTGTACTTCCACTG	0.368													False	0	False	1:211749594	0	C	211749594	T	C	211749594	2	2	88	1	0	0	0	0	0	0	0	1	14633	1625	57	4		4	SLC30A1	1	211749594	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	203992	211749594	37501027	1695	9407											
INTS7	25896	broad.mit.edu	37	chr1	212148514	212148514	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaagaggacttactgttaaGgaagcaatccctttgtgata	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212148514G>T	ENST00000366994.3	-	13	1913	c.1809C>A	c.(1807-1809)tcC>tcA	p.S603S	INTS7_ENST00000440600.2_Silent_p.S554S|INTS7_ENST00000366993.3_Silent_p.S603S|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.S603S	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	603					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TTACTGTTAAGGAAGCAATCC	0.373													False	0	False	1:212148514	0	T	212148514	G	T	212148514	2	4	88	1	0	0	0	0	0	0	0	1	7833	987	35	3		3	INTS7	1	212148514	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	398920	212148514	37102107	1696	9408											
INTS7	25896	broad.mit.edu	37	chr1	212151704	212151704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccatcacccagcaccggCagttgcatggcaatggctgc	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212151704C>T	ENST00000366994.3	-	11	1484	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L	INTS7_ENST00000440600.2_Silent_p.L411L|INTS7_ENST00000366993.3_Silent_p.L460L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.L460L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	460					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CCAGCACCGGCAGTTGCATGG	0.522													False	0	False	1:212151704	0	T	212151704	C	T	212151704	2	4	88	1	0	0	0	0	0	0	0	1	7833	697	25	2		2	INTS7	1	212151704	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3190	212151704	37098917	1697	9409											
INTS7	25896	broad.mit.edu	37	chr1	212180785	212180785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcaagtctactggtgtcGctaaacctagacacaaaaat	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212180785G>A	ENST00000366994.3	-	6	667	c.563C>T	c.(562-564)gCg>gTg	p.A188V	INTS7_ENST00000440600.2_Missense_Mutation_p.A139V|INTS7_ENST00000366993.3_Missense_Mutation_p.A188V|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.A188V	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	188					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TACTGGTGTCGCTAAACCTAG	0.383													False	0	False	1:212180785	0	A	212180785	G	A	212180785	3	1	88	1	0	0	0	0	1	0	0	0	7833	1087	38	1	2385	1	INTS7	1	212180785	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29081	212180785	37069836	1698	9410											
DTL	51514	broad.mit.edu	37	chr1	212251574	212251574	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattctcaagaggtcacgtcTgtgtgctggtgtccatctga	11	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212251574T>G	ENST00000366991.4	+	12	1409	c.1095T>G	c.(1093-1095)tcT>tcG	p.S365S	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.S323S	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	365					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AGGTCACGTCTGTGTGCTGGT	0.413													False	0	True	1:212251574	0	G	212251574	T	G	212251574	2	3	88	1	0	0	0	0	0	0	0	1	4817	1567	55	4		4	DTL	1	212251574	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	70789	212251574	36999047	1699	9411											
PPP2R5A	5525	broad.mit.edu	37	chr1	212519209	212519209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgaagactgttctgcaccGaatttatgggaaatttcttg	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212519209G>A	ENST00000261461.2	+	5	1212	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.R156Q|PPP2R5A_ENST00000498129.2_3'UTR	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	213					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GTTCTGCACCGAATTTATGGG	0.323													False	0	False	1:212519209	0	A	212519209	G	A	212519209	3	1	88	1	0	0	0	0	1	0	0	0	12466	1058	37	1	656	1	PPP2R5A	1	212519209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	267635	212519209	36731412	1700	9412											
TMEM206	55248	broad.mit.edu	37	chr1	212548540	212548540	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttaaatactcacatcttGgactttctggatgaaaggat	7	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212548540G>A	ENST00000261455.4	-	7	1023	c.886C>T	c.(886-888)Caa>Taa	p.Q296*	TMEM206_ENST00000535273.1_Nonsense_Mutation_p.Q357*	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	296						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CTCACATCTTGGACTTTCTGG	0.313													False	0	False	1:212548540	0	A	212548540	G	A	212548540	4	1	88	1	0	0	0	0	0	1	0	0	16213	1357	47	2	174	2	TMEM206	1	212548540	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29331	212548540	36702081	1701	9413											
ATF3	467	broad.mit.edu	37	chr1	212791502	212791502	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgaaaggaaaaagaggCgacgagaaagaaataagatt	12	2	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212791502C>T	ENST00000341491.4	+	3	539	c.274C>T	c.(274-276)Cga>Tga	p.R92*	ATF3_ENST00000366987.2_Nonsense_Mutation_p.R92*|ATF3_ENST00000336937.4_Nonsense_Mutation_p.R63*|ATF3_ENST00000492118.1_Intron|ATF3_ENST00000366983.1_Nonsense_Mutation_p.R92*|ATF3_ENST00000366985.1_Nonsense_Mutation_p.R35*	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	92						nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)		GAAAAAGAGGCGACGAGAAAG	0.448													False	0	False	1:212791502	0	T	212791502	C	T	212791502	4	4	88	1	0	0	0	0	0	1	0	0	1085	760	27	1	280	1	ATF3	1	212791502	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	242962	212791502	36459119	1702	9414											
FAM71A	149647	broad.mit.edu	37	chr1	212799202	212799202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaacaaaggcaacatggCccttgcaggcactgccagca	11	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212799202C>T	ENST00000294829.3	+	1	1414	c.983C>T	c.(982-984)gCc>gTc	p.A328V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	328	Ala-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGCAACATGGCCCTTGCAGGC	0.617													False	0	True	1:212799202	0	T	212799202	C	T	212799202	3	4	88	1	0	0	0	0	1	0	0	0	5647	739	26	2	985	2	FAM71A	1	212799202	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7700	212799202	36451419	1703	9415											
FLVCR1	28982	broad.mit.edu	37	chr1	213032402	213032402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcatctcttctgggtcaCcatgttgggccagtgcttgt	12	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213032402C>T	ENST00000366971.4	+	1	806	c.608C>T	c.(607-609)aCc>aTc	p.T203I		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	203					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTCTGGGTCACCATGTTGGGC	0.642													False	0	False	1:213032402	0	T	213032402	C	T	213032402	3	4	88	1	0	0	0	0	1	0	0	0	5985	507	18	2	610	2	FLVCR1	1	213032402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233200	213032402	36218219	1704	9416											
FLVCR1	28982	broad.mit.edu	37	chr1	213032418	213032418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccatgttgggccagtgCttgtgctcggtggcccaggt	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213032418C>T	ENST00000366971.4	+	1	822	c.624C>T	c.(622-624)tgC>tgT	p.C208C		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	208					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TGGGCCAGTGCTTGTGCTCGG	0.642													False	0	False	1:213032418	0	T	213032418	C	T	213032418	2	4	88	1	0	0	0	0	0	0	0	1	5985	805	28	2		2	FLVCR1	1	213032418	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	213032418	36218203	1705	9417											
ANGEL2	90806	broad.mit.edu	37	chr1	213186643	213186643	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggagctcgagagtaatgTccaggccacctcatacaact	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213186643T>C	ENST00000366962.3	-	2	331	c.177A>G	c.(175-177)ggA>ggG	p.G59G	ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000540642.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	59										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GAGAGTAATGTCCAGGCCACC	0.463													False	0	False	1:213186643	0	C	213186643	T	C	213186643	2	2	88	1	0	0	0	0	0	0	0	1	609	1654	58	4		4	ANGEL2	1	213186643	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	154225	213186643	36063978	1706	9418											
RPS6KC1	26750	broad.mit.edu	37	chr1	213415505	213415505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgataaaaaattagcactaGcctccaggttttacatccca	5	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213415505G>T	ENST00000366960.3	+	11	2836	c.2686G>T	c.(2686-2688)Gcc>Tcc	p.A896S	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.A599S|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.A684S|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.A884S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	896	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ATTAGCACTAGCCTCCAGGTT	0.453													False	0	False	1:213415505	0	T	213415505	G	T	213415505	3	4	88	1	0	0	0	0	1	0	0	0	13737	971	34	3	2728	3	RPS6KC1	1	213415505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228862	213415505	35835116	1707	9419											
PROX1	5629	broad.mit.edu	37	chr1	214170140	214170140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatgccatgatgccttttCcaggagcaaccataatttcc	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170140C>T	ENST00000366958.4	+	2	870	c.262C>T	c.(262-264)Cca>Tca	p.P88S	PROX1_ENST00000261454.4_Missense_Mutation_p.P88S|PROX1_ENST00000498508.2_Missense_Mutation_p.P88S|PROX1_ENST00000435016.1_Missense_Mutation_p.P88S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	88					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GATGCCTTTTCCAGGAGCAAC	0.483													False	0	True	1:214170140	0	T	214170140	C	T	214170140	3	4	88	1	0	0	0	0	1	0	0	0	12636	855	30	2	264	2	PROX1	1	214170140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	754635	214170140	35080481	1708	9420											
PROX1	5629	broad.mit.edu	37	chr1	214170732	214170732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcgctcggagatcctggAtgccagggcccaggactctg	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170732A>G	ENST00000366958.4	+	2	1462	c.854A>G	c.(853-855)gAt>gGt	p.D285G	PROX1_ENST00000261454.4_Missense_Mutation_p.D285G|PROX1_ENST00000498508.2_Missense_Mutation_p.D285G|PROX1_ENST00000435016.1_Missense_Mutation_p.D285G	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	285					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAGATCCTGGATGCCAGGGCC	0.512													False	0	False	1:214170732	0	G	214170732	A	G	214170732	3	3	88	1	0	0	0	0	1	0	0	0	12636	333	12	4	856	4	PROX1	1	214170732	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	592	214170732	35079889	1709	9421											
PROX1	5629	broad.mit.edu	37	chr1	214171148	214171148	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccgaaccccctggacaccTttggcaatgtgcagatggcc	10	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214171148T>G	ENST00000366958.4	+	2	1878	c.1270T>G	c.(1270-1272)Ttt>Gtt	p.F424V	PROX1_ENST00000261454.4_Missense_Mutation_p.F424V|PROX1_ENST00000498508.2_Missense_Mutation_p.F424V|PROX1_ENST00000435016.1_Missense_Mutation_p.F424V	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	424					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCTGGACACCTTTGGCAATGT	0.582													False	0	True	1:214171148	0	G	214171148	T	G	214171148	3	3	88	1	0	0	0	0	1	0	0	0	12636	1609	56	4	1272	4	PROX1	1	214171148	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	416	214171148	35079473	1710	9422											
SMYD2	56950	broad.mit.edu	37	chr1	214500997	214500997	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatagctgttgccccaAtgtcattgtgacctacaaag	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214500997A>C	ENST00000366957.5	+	7	657	c.635A>C	c.(634-636)aAt>aCt	p.N212T	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.N212T	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	212	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TGTTGCCCCAATGTCATTGTG	0.473											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	False	0	False	1:214500997	0	C	214500997	A	C	214500997	3	2	88	1	0	0	0	0	1	0	0	0	14902	101	4	4	661	4	SMYD2	1	214500997	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	329849	214500997	34749624	1711	9423											
SMYD2	56950	broad.mit.edu	37	chr1	214501057	214501057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtacaggaaatcaagcCgggagaggaggtgagttcat	15	6	2	2	rs140909791		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214501057C>T	ENST00000366957.5	+	7	717	c.695C>T	c.(694-696)cCg>cTg	p.P232L	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.P232L	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	232	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GAAATCAAGCCGGGAGAGGAG	0.507											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	False	0	True	1:214501057	0	T	214501057	C	T	214501057	3	4	88	1	0	0	0	0	1	0	0	0	14902	652	23	1	721	1	SMYD2	1	214501057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	214501057	34749564	1712	9424											
PTPN14	5784	broad.mit.edu	37	chr1	214546067	214546067	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttacctcctctgcagtgAccatggcaatcacattcact	5	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214546067A>G	ENST00000366956.5	-	16	3217	c.3023T>C	c.(3022-3024)gTc>gCc	p.V1008A	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1008	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTCTGCAGTGACCATGGCAAT	0.572													False	0	False	1:214546067	0	G	214546067	A	G	214546067	3	3	88	1	0	0	0	0	1	0	0	0	12860	275	10	4	556	4	PTPN14	1	214546067	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45010	214546067	34704554	1713	9425											
PTPN14	5784	broad.mit.edu	37	chr1	214557227	214557227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggtggagcgacttgagCgtcatggcctccatgccccg	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214557227C>T	ENST00000366956.5	-	13	2165	c.1971G>A	c.(1969-1971)acG>acA	p.T657T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	657					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCGACTTGAGCGTCATGGCCT	0.682													False	0	False	1:214557227	0	T	214557227	C	T	214557227	2	4	88	1	0	0	0	0	0	0	0	1	12860	755	27	1		1	PTPN14	1	214557227	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11160	214557227	34693394	1714	9426											
PTPN14	5784	broad.mit.edu	37	chr1	214557310	214557310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccgtggtgcttggtggCcgtgaggggctcgctcacct	17	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214557310C>T	ENST00000366956.5	-	13	2082	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	630					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCTTGGTGGCCGTGAGGGGC	0.622													False	0	False	1:214557310	0	T	214557310	C	T	214557310	3	4	88	1	0	0	0	0	1	0	0	0	12860	739	26	2	1703	2	PTPN14	1	214557310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	214557310	34693311	1715	9427											
PTPN14	5784	broad.mit.edu	37	chr1	214575046	214575046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctttacagggaagatttcCtgtccaaatccatccaaacg	6	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214575046C>A	ENST00000366956.5	-	7	845	c.651G>T	c.(649-651)caG>caT	p.Q217H	PTPN14_ENST00000543945.1_Intron	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	217	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGAAGATTTCCTGTCCAAATC	0.428													False	0	False	1:214575046	0	A	214575046	C	A	214575046	3	1	88	1	0	0	0	0	1	0	0	0	12860	680	24	3	2964	3	PTPN14	1	214575046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17736	214575046	34675575	1716	9428											
CENPF	1063	broad.mit.edu	37	chr1	214813956	214813956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttaccaagacttgcatgccGaatatgagagcctcagggat	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214813956G>A	ENST00000366955.3	+	12	2443	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	759					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTTGCATGCCGAATATGAGAG	0.428													False	0	False	1:214813956	0	A	214813956	G	A	214813956	3	1	88	1	0	0	0	0	1	0	0	0	3254	1059	37	1	2317	1	CENPF	1	214813956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238910	214813956	34436665	1717	9429											
CENPF	1063	broad.mit.edu	37	chr1	214815450	214815450	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcaagacatgcagtcacaaGaaattagtggccttaaagac	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214815450G>T	ENST00000366955.3	+	12	3937	c.3769G>T	c.(3769-3771)Gaa>Taa	p.E1257*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1338					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCAGTCACAAGAAATTAGTGG	0.413													False	0	True	1:214815450	0	T	214815450	G	T	214815450	4	4	88	1	0	0	0	0	0	1	0	0	3254	943	33	3	3811	3	CENPF	1	214815450	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1494	214815450	34435171	1718	9430											
CENPF	1063	broad.mit.edu	37	chr1	214818475	214818475	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttttcttgtgatcaccaGgagttactccagagagtaga	9	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214818475G>T	ENST00000366955.3	+	13	5730	c.5562G>T	c.(5560-5562)caG>caT	p.Q1854H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1950					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTGATCACCAGGAGTTACTCC	0.343													False	0	False	1:214818475	0	T	214818475	G	T	214818475	3	4	88	1	0	0	0	0	1	0	0	0	3254	991	35	3	5608	3	CENPF	1	214818475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3025	214818475	34432146	1719	9431											
CENPF	1063	broad.mit.edu	37	chr1	214819626	214819626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttactctcttcatttaaaaGtctgttagaagaaaaggagc	8	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214819626G>A	ENST00000366955.3	+	13	6881	c.6713G>A	c.(6712-6714)aGt>aAt	p.S2238N		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2334	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCATTTAAAAGTCTGTTAGAA	0.358													False	0	True	1:214819626	0	A	214819626	G	A	214819626	3	1	88	1	0	0	0	0	1	0	0	0	3254	1029	36	2	6759	2	CENPF	1	214819626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1151	214819626	34430995	1720	9432											
KCTD3	51133	broad.mit.edu	37	chr1	215775224	215775224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcaggttcaagatgttgttCctataactagttatgacact	7	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215775224C>A	ENST00000259154.4	+	11	1243	c.949C>A	c.(949-951)Cct>Act	p.P317T		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	317						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGATGTTGTTCCTATAACTAG	0.328													False	0	False	1:215775224	0	A	215775224	C	A	215775224	3	1	88	1	0	0	0	0	1	0	0	0	8160	855	30	3	991	3	KCTD3	1	215775224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	955598	215775224	33475397	1721	9433											
KCTD3	51133	broad.mit.edu	37	chr1	215793638	215793638	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaatgtaatatatctgagaGaaagtctcctggagtagaaa	11	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215793638G>A	ENST00000259154.4	+	18	2420	c.2126G>A	c.(2125-2127)aGa>aAa	p.R709K	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	709						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATATCTGAGAGAAAGTCTCCT	0.383													False	0	True	1:215793638	0	A	215793638	G	A	215793638	3	1	88	1	0	0	0	0	1	0	0	0	8160	942	33	2	2196	2	KCTD3	1	215793638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18414	215793638	33456983	1722	9434											
KCTD3	51133	broad.mit.edu	37	chr1	215793742	215793742	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatccaagaaaaggtcatcaGaagatgaaaatgaaaataaa	7	4	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215793742G>T	ENST00000259154.4	+	18	2524	c.2230G>T	c.(2230-2232)Gaa>Taa	p.E744*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	744						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGGTCATCAGAAGATGAAAA	0.378													False	0	False	1:215793742	0	T	215793742	G	T	215793742	4	4	88	1	0	0	0	0	0	1	0	0	8160	943	33	3	2300	3	KCTD3	1	215793742	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104	215793742	33456879	1723	9435											
USH2A	7399	broad.mit.edu	37	chr1	215812508	215812508	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttgtttaccaagtccagtaGaggtatcatattggatcaac	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215812508G>A	ENST00000366943.2	-	69	15427	c.15041C>T	c.(15040-15042)tCt>tTt	p.S5014F	USH2A_ENST00000307340.3_Missense_Mutation_p.S5014F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5014	Fibronectin type-III 35.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGTCCAGTAGAGGTATCATA	0.398										HNSCC(13;0.011)			False	0	False	1:215812508	0	A	215812508	G	A	215812508	3	1	88	1	0	0	0	0	1	0	0	0	17120	942	33	2	583	2	USH2A	1	215812508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18766	215812508	33438113	1724	9436											
USH2A	7399	broad.mit.edu	37	chr1	215820899	215820899	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaactgatccactcggaaGccgtactgcccacctcgttg	9	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215820899G>T	ENST00000366943.2	-	67	15142	c.14756C>A	c.(14755-14757)gCt>gAt	p.A4919D	USH2A_ENST00000307340.3_Missense_Mutation_p.A4919D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4919	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCACTCGGAAGCCGTACTGCC	0.542										HNSCC(13;0.011)			False	0	False	1:215820899	0	T	215820899	G	T	215820899	3	4	88	1	0	0	0	0	1	0	0	0	17120	971	34	3	876	3	USH2A	1	215820899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8391	215820899	33429722	1725	9437											
USH2A	7399	broad.mit.edu	37	chr1	215844619	215844619	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcccagggtggtgcacgcttGaattcgtatttcataccttc	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215844619G>A	ENST00000366943.2	-	64	14214	c.13828C>T	c.(13828-13830)Caa>Taa	p.Q4610*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q4610*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4610	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGCACGCTTGAATTCGTATT	0.428										HNSCC(13;0.011)			False	0	False	1:215844619	0	A	215844619	G	A	215844619	4	1	88	1	0	0	0	0	0	1	0	0	17120	1299	45	2	1816	2	USH2A	1	215844619	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23720	215844619	33406002	1726	9438											
USH2A	7399	broad.mit.edu	37	chr1	215848163	215848163	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtggcactgacggcccaaaGatctggagggctgacttctg	14	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215848163G>A	ENST00000366943.2	-	63	13476	c.13090C>T	c.(13090-13092)Ctt>Ttt	p.L4364F	USH2A_ENST00000307340.3_Missense_Mutation_p.L4364F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4364	Fibronectin type-III 29.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACGGCCCAAAGATCTGGAGGG	0.473										HNSCC(13;0.011)			False	0	True	1:215848163	0	A	215848163	G	A	215848163	3	1	88	1	0	0	0	0	1	0	0	0	17120	942	33	2	2558	2	USH2A	1	215848163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3544	215848163	33402458	1727	9439											
USH2A	7399	broad.mit.edu	37	chr1	215960182	215960182	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatgttctgtggcttccataGatgctgggcagaggatcctg	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215960182G>A	ENST00000366943.2	-	52	10603	c.10217C>T	c.(10216-10218)tCt>tTt	p.S3406F	USH2A_ENST00000307340.3_Missense_Mutation_p.S3406F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3406	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCTTCCATAGATGCTGGGCA	0.468										HNSCC(13;0.011)			False	0	False	1:215960182	0	A	215960182	G	A	215960182	3	1	88	1	0	0	0	0	1	0	0	0	17120	942	33	2	5475	2	USH2A	1	215960182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112019	215960182	33290439	1728	9440											
USH2A	7399	broad.mit.edu	37	chr1	215990410	215990410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctcactgccttgcagaGctcatcactctgatcctgca	6	16	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215990410G>A	ENST00000366943.2	-	48	9885	c.9499C>T	c.(9499-9501)Ctc>Ttc	p.L3167F	USH2A_ENST00000307340.3_Missense_Mutation_p.L3167F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3167	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCTTGCAGAGCTCATCACTC	0.413										HNSCC(13;0.011)			False	0	False	1:215990410	0	A	215990410	G	A	215990410	3	1	88	1	0	0	0	0	1	0	0	0	17120	971	34	2	6209	2	USH2A	1	215990410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30228	215990410	33260211	1729	9441											
USH2A	7399	broad.mit.edu	37	chr1	216011418	216011418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggttccattgcttttcaCgcaggcatatattgtgcaga	10	8	1	1	rs147267500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216011418C>T	ENST00000366943.2	-	47	9672	c.9286G>A	c.(9286-9288)Gtg>Atg	p.V3096M	USH2A_ENST00000307340.3_Missense_Mutation_p.V3096M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3096	Fibronectin type-III 17.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGCTTTTCACGCAGGCATAT	0.373										HNSCC(13;0.011)			False	0	False	1:216011418	0	T	216011418	C	T	216011418	3	4	88	1	0	0	0	0	1	0	0	0	17120	536	19	1	6426	1	USH2A	1	216011418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21008	216011418	33239203	1730	9442											
USH2A	7399	broad.mit.edu	37	chr1	216019173	216019173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctggactcacccccatcGcaagtggttgcatgaagtcc	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216019173G>A	ENST00000366943.2	-	45	9434	c.9048C>T	c.(9046-9048)tgC>tgT	p.C3016C	USH2A_ENST00000307340.3_Silent_p.C3016C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3016					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.C3016C(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACCCCCATCGCAAGTGGTTG	0.448										HNSCC(13;0.011)			False	0	False	1:216019173	0	A	216019173	G	A	216019173	2	1	88	1	0	0	0	0	0	0	0	1	17120	1079	38	1		1	USH2A	1	216019173	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7755	216019173	33231448	1731	9443											
USH2A	7399	broad.mit.edu	37	chr1	216040414	216040414	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgcagtgagattggctcctCtctctggaagaccagctaac	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216040414C>A	ENST00000366943.2	-	44	9166	c.8780G>T	c.(8779-8781)aGa>aTa	p.R2927I	USH2A_ENST00000307340.3_Missense_Mutation_p.R2927I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2927	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGGCTCCTCTCTCTGGAAG	0.468										HNSCC(13;0.011)			False	0	True	1:216040414	0	A	216040414	C	A	216040414	3	1	88	1	0	0	0	0	1	0	0	0	17120	913	32	3	6944	3	USH2A	1	216040414	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21241	216040414	33210207	1732	9444											
USH2A	7399	broad.mit.edu	37	chr1	216062136	216062136	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttccggtgcccctgggagtgTccatacagtctgggactctg	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216062136T>A	ENST00000366943.2	-	41	8241	c.7855A>T	c.(7855-7857)Aca>Tca	p.T2619S	USH2A_ENST00000307340.3_Missense_Mutation_p.T2619S|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2619	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTGGGAGTGTCCATACAGTC	0.502										HNSCC(13;0.011)			False	0	False	1:216062136	0	A	216062136	T	A	216062136	3	1	88	1	0	0	0	0	1	0	0	0	17120	1667	58	5	7881	5	USH2A	1	216062136	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21722	216062136	33188485	1733	9445											
USH2A	7399	broad.mit.edu	37	chr1	216243446	216243446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaggattgcatttacctgTgaggttgcttgtattgacaa	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216243446T>C	ENST00000366943.2	-	30	6432	c.6046A>G	c.(6046-6048)Aca>Gca	p.T2016A	USH2A_ENST00000307340.3_Missense_Mutation_p.T2016A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2016	Fibronectin type-III 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATTTACCTGTGAGGTTGCTT	0.378										HNSCC(13;0.011)			False	0	False	1:216243446	0	C	216243446	T	C	216243446	3	2	88	1	0	0	0	0	1	0	0	0	17120	1696	59	4	9734	4	USH2A	1	216243446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181310	216243446	33007175	1734	9446											
USH2A	7399	broad.mit.edu	37	chr1	216256823	216256823	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatcaggtccatctttgTtataaacgaaaagaagcaat	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216256823T>G	ENST00000366943.2	-	26	5659	c.5273A>C	c.(5272-5274)aAc>aCc	p.N1758T	RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.N1758T|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1758	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.N1758T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATCTTTGTTATAAACGAA	0.303										HNSCC(13;0.011)			False	0	False	1:216256823	0	G	216256823	T	G	216256823	3	3	88	1	0	0	0	0	1	0	0	0	17120	1725	60	4	10523	4	USH2A	1	216256823	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13377	216256823	32993798	1735	9447											
USH2A	7399	broad.mit.edu	37	chr1	216258214	216258214	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccacaaaacctttttggaTtatctctgcaggagtttata	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216258214T>G	ENST00000366943.2	-	25	5379	c.4993A>C	c.(4993-4995)Atc>Ctc	p.I1665L	RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.I1665L|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1665	Laminin G-like 1.		I -> T (in dbSNP:rs56222536).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTTTTTGGATTATCTCTGCA	0.333										HNSCC(13;0.011)			False	0	False	1:216258214	0	G	216258214	T	G	216258214	3	3	88	1	0	0	0	0	1	0	0	0	17120	1493	52	4	10807	4	USH2A	1	216258214	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1391	216258214	32992407	1736	9448											
USH2A	7399	broad.mit.edu	37	chr1	216270488	216270488	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaaaatactcttcctgAttgccaggtgatgctgcaaa	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216270488A>G	ENST00000366943.2	-	22	5081	c.4695T>C	c.(4693-4695)aaT>aaC	p.N1565N	USH2A_ENST00000307340.3_Silent_p.N1565N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1565	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTCTTCCTGATTGCCAGGTG	0.378										HNSCC(13;0.011)			False	0	False	1:216270488	0	G	216270488	A	G	216270488	2	3	88	1	0	0	0	0	0	0	0	1	17120	330	12	4		4	USH2A	1	216270488	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12274	216270488	32980133	1737	9449											
USH2A	7399	broad.mit.edu	37	chr1	216390747	216390747	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttttgctgcaacccaataGattgttgacatccaagtggc	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216390747G>A	ENST00000366943.2	-	15	3525	c.3139C>T	c.(3139-3141)Cta>Tta	p.L1047L	USH2A_ENST00000307340.3_Silent_p.L1047L|USH2A_ENST00000366942.3_Silent_p.L1047L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1047	Laminin EGF-like 10.		L -> V.		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAACCCAATAGATTGTTGACA	0.448										HNSCC(13;0.011)			False	0	False	1:216390747	0	A	216390747	G	A	216390747	2	1	88	1	0	0	0	0	0	0	0	1	17120	933	33	2		2	USH2A	1	216390747	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120259	216390747	32859874	1738	9450											
USH2A	7399	broad.mit.edu	37	chr1	216424250	216424250	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgttacacgtaccaataAcgtttgctttgcacttgcac	7	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216424250A>C	ENST00000366943.2	-	12	2548	c.2162T>G	c.(2161-2163)gTt>gGt	p.V721G	USH2A_ENST00000307340.3_Missense_Mutation_p.V721G|USH2A_ENST00000366942.3_Missense_Mutation_p.V721G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	721	Laminin EGF-like 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGTACCAATAACGTTTGCTTT	0.403										HNSCC(13;0.011)			False	0	False	1:216424250	0	C	216424250	A	C	216424250	3	2	88	1	0	0	0	0	1	0	0	0	17120	43	2	4	13704	4	USH2A	1	216424250	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33503	216424250	32826371	1739	9451											
USH2A	7399	broad.mit.edu	37	chr1	216465665	216465665	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagcgtaaacttgatcAccttggcggaaaggcttgtc	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216465665A>C	ENST00000366943.2	-	10	2078	c.1692T>G	c.(1690-1692)ggT>ggG	p.G564G	USH2A_ENST00000307340.3_Silent_p.G564G|USH2A_ENST00000366942.3_Silent_p.G564G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	564	Laminin EGF-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAACTTGATCACCTTGGCGGA	0.383										HNSCC(13;0.011)			False	0	False	1:216465665	0	C	216465665	A	C	216465665	2	2	88	1	0	0	0	0	0	0	0	1	17120	146	6	4		4	USH2A	1	216465665	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41415	216465665	32784956	1740	9452											
USH2A	7399	broad.mit.edu	37	chr1	216595582	216595582	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggaaaagacctcgtgActcagtcaaggatattgaag	11	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216595582A>G	ENST00000366943.2	-	2	483	c.97T>C	c.(97-99)Tca>Cca	p.S33P	USH2A_ENST00000307340.3_Missense_Mutation_p.S33P|USH2A_ENST00000366942.3_Missense_Mutation_p.S33P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	33					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGACCTCGTGACTCAGTCAAG	0.453										HNSCC(13;0.011)			False	0	False	1:216595582	0	G	216595582	A	G	216595582	3	3	88	1	0	0	0	0	1	0	0	0	17120	275	10	4	15809	4	USH2A	1	216595582	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	129917	216595582	32655039	1741	9453											
SPATA17	128153	broad.mit.edu	37	chr1	217824443	217824443	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attttttttatcctaggcatTtaaacaggattgtaacaatt	5	5	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:217824443T>A	ENST00000366933.4	+	3	218	c.163T>A	c.(163-165)Tta>Ata	p.L55I		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	55	IQ 1.|IQ 2.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TCCTAGGCATTTAAACAGGAT	0.284													False	0	True	1:217824443	0	A	217824443	T	A	217824443	3	1	88	1	0	0	0	0	1	0	0	0	15084	1838	64	5	173	5	SPATA17	1	217824443	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1228861	217824443	31426178	1742	9454											
SPATA17	128153	broad.mit.edu	37	chr1	218036156	218036156	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatttgagctcttctcaaAgtatggaaaattatattcaa	5	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:218036156A>C	ENST00000366933.4	+	10	1101	c.1046A>C	c.(1045-1047)aAg>aCg	p.K349T	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	349						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CTCTTCTCAAAGTATGGAAAA	0.289													False	0	True	1:218036156	0	C	218036156	A	C	218036156	3	2	88	1	0	0	0	0	1	0	0	0	15084	72	3	4	1084	4	SPATA17	1	218036156	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	211713	218036156	31214465	1743	9455											
TGFB2	7042	broad.mit.edu	37	chr1	218520115	218520115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctcagcctgtctacctgCagcacactcgatatggacca	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:218520115C>T	ENST00000366929.4	+	1	539	c.72C>T	c.(70-72)tgC>tgT	p.C24C	TGFB2_ENST00000366930.4_Silent_p.C24C	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	24					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TGTCTACCTGCAGCACACTCG	0.512													False	0	False	1:218520115	0	T	218520115	C	T	218520115	2	4	88	1	0	0	0	0	0	0	0	1	15900	718	25	2		2	TGFB2	1	218520115	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	483959	218520115	30730506	1744	9456											
LYPLAL1	127018	broad.mit.edu	37	chr1	219366593	219366593	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagaacaggatattaataGgtaagacctttaaatgttgg	10	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:219366593G>T	ENST00000366928.5	+	3	408	c.361G>T	c.(361-363)Gga>Tga	p.G121*	LYPLAL1_ENST00000366927.3_Splice_Site_p.G105*|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	121						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GATATTAATAGGTAAGACCTT	0.318													False	0	False	1:219366593	0	T	219366593	G	T	219366593	5	4	88	1	0	0	0	0	0	0	1	0	9181	1014	35	3	371	3	LYPLAL1	1	219366593	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	846478	219366593	29884028	1745	9457											
SLC30A10	55532	broad.mit.edu	37	chr1	220091645	220091645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatctgtagcagaatggCagcggtctccttgataagcg	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220091645C>T	ENST00000366926.3	-	3	1071	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	SLC30A10_ENST00000536446.1_Missense_Mutation_p.A59T|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	304					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		AGCAGAATGGCAGCGGTCTCC	0.463													False	0	False	1:220091645	0	T	220091645	C	T	220091645	3	4	88	1	0	0	0	0	1	0	0	0	14634	710	25	2	555	2	SLC30A10	1	220091645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	725052	220091645	29158976	1746	9458											
EPRS	2058	broad.mit.edu	37	chr1	220146653	220146653	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcattttcagcaactgTcagcttttctccagtatctc	5	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220146653T>C	ENST00000366923.3	-	29	4440	c.4171A>G	c.(4171-4173)Aca>Gca	p.T1391A		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1391	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TCAGCAACTGTCAGCTTTTCT	0.413													False	0	False	1:220146653	0	C	220146653	T	C	220146653	3	2	88	1	0	0	0	0	1	0	0	0	5223	1667	58	4	383	4	EPRS	1	220146653	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55008	220146653	29103968	1747	9459											
BPNT1	10380	broad.mit.edu	37	chr1	220240718	220240718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaattccaataagaactgTtacattgtcaagaagacctg	7	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220240718T>C	ENST00000469520.2	-	7	849	c.400A>G	c.(400-402)Aca>Gca	p.T134A	BPNT1_ENST00000414869.2_Missense_Mutation_p.T98A|BPNT1_ENST00000322067.7_Missense_Mutation_p.T134A|BPNT1_ENST00000354807.3_Missense_Mutation_p.T134A|BPNT1_ENST00000544404.1_Missense_Mutation_p.T79A|BPNT1_ENST00000482136.1_5'UTR			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	134					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		ATAAGAACTGTTACATTGTCA	0.308													False	0	False	1:220240718	0	C	220240718	T	C	220240718	3	2	88	1	0	0	0	0	1	0	0	0	1501	1725	60	4	542	4	BPNT1	1	220240718	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	94065	220240718	29009903	1748	9460											
BPNT1	10380	broad.mit.edu	37	chr1	220253166	220253166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggaggctaccaaccgcatcAacacagtgttactggaagcc	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220253166A>G	ENST00000469520.2	-	3	472	c.23T>C	c.(22-24)tTg>tCg	p.L8S	BPNT1_ENST00000414869.2_Missense_Mutation_p.L8S|BPNT1_ENST00000322067.7_Missense_Mutation_p.L8S|BPNT1_ENST00000354807.3_Missense_Mutation_p.L8S|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000482136.1_Intron			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	8					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CAACCGCATCAACACAGTGTT	0.398													False	0	False	1:220253166	0	G	220253166	A	G	220253166	3	3	88	1	0	0	0	0	1	0	0	0	1501	131	5	4	935	4	BPNT1	1	220253166	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12448	220253166	28997455	1749	9461											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220384297	220384297	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgactcttatttatccttacCtcttttggcttgctagtggg	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220384297C>A	ENST00000358951.2	-	5	550	c.434G>T	c.(433-435)aGg>aTg	p.R145M		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	145					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTATCCTTACCTCTTTTGGCT	0.353													False	0	False	1:220384297	0	A	220384297	C	A	220384297	5	1	88	1	0	0	0	0	0	0	1	0	13015	695	24	3	3871	3	RAB3GAP2	1	220384297	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131131	220384297	28866324	1750	9462											
MARK1	4139	broad.mit.edu	37	chr1	220804392	220804392	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctagcaaataatgaaagatCgatggatgaatgttggtcat	10	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220804392C>T	ENST00000402574.1	+	10	1522	c.520C>T	c.(520-522)Cga>Tga	p.R174*	MARK1_ENST00000366918.4_Nonsense_Mutation_p.R287*|MARK1_ENST00000366917.4_Nonsense_Mutation_p.R309*	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	309	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AATGAAAGATCGATGGATGAA	0.328													False	0	True	1:220804392	0	T	220804392	C	T	220804392	4	4	88	1	0	0	0	0	0	1	0	0	9379	876	31	1	963	1	MARK1	1	220804392	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	420095	220804392	28446229	1751	9463											
HLX	3142	broad.mit.edu	37	chr1	221057562	221057562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtggttccagaaccggcGgatgaagtggcggcactcca	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221057562G>A	ENST00000366903.6	+	4	2484	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	HLX_ENST00000549319.1_Missense_Mutation_p.R114Q	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	328					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CAGAACCGGCGGATGAAGTGG	0.637													False	0	False	1:221057562	0	A	221057562	G	A	221057562	3	1	88	1	0	0	0	0	1	0	0	0	7263	1116	39	1	997	1	HLX	1	221057562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253170	221057562	28193059	1752	9464											
DUSP10	11221	broad.mit.edu	37	chr1	221875948	221875948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcaagtaagcgatgaCgatggtggcggagcgggaca	15	8	2	1	rs116590328	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221875948C>T	ENST00000366899.3	-	4	1493	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_Missense_Mutation_p.V77I|DUSP10_ENST00000544095.1_Missense_Mutation_p.V77I	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	419	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TAAGCGATGACGATGGTGGCG	0.488													False	0	False	1:221875948	0	T	221875948	C	T	221875948	3	4	88	1	0	0	0	0	1	0	0	0	4840	536	19	1	197	1	DUSP10	1	221875948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	818386	221875948	27374673	1753	9465											
DUSP10	11221	broad.mit.edu	37	chr1	221913078	221913078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgtcgtctaaaggagaCggaggcatgaggaggctgaa	15	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221913078C>T	ENST00000366899.3	-	2	247	c.9G>A	c.(7-9)ccG>ccA	p.P3P	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	3					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.P3P(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTAAAGGAGACGGAGGCATGA	0.483													False	0	False	1:221913078	0	T	221913078	C	T	221913078	2	4	88	1	0	0	0	0	0	0	0	1	4840	523	19	1		1	DUSP10	1	221913078	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37130	221913078	27337543	1754	9466											
HHIPL2	79802	broad.mit.edu	37	chr1	222713615	222713615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggattgtccgaggggactCggtaccgcttgccatgtgag	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222713615C>T	ENST00000343410.6	-	4	1245	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	396					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGAGGGGACTCGGTACCGCTT	0.542													False	0	False	1:222713615	0	T	222713615	C	T	222713615	3	4	88	1	0	0	0	0	1	0	0	0	7141	884	31	1	1011	1	HHIPL2	1	222713615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	800537	222713615	26537006	1755	9467											
HHIPL2	79802	broad.mit.edu	37	chr1	222721298	222721298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctggcccaacaagaatAtgaggcagaggcagagaatg	12	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222721298A>G	ENST00000343410.6	-	1	147	c.89T>C	c.(88-90)aTa>aCa	p.I30T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	30					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAACAAGAATATGAGGCAGAG	0.592													False	0	False	1:222721298	0	G	222721298	A	G	222721298	3	3	88	1	0	0	0	0	1	0	0	0	7141	449	16	4	2121	4	HHIPL2	1	222721298	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7683	222721298	26529323	1756	9468											
TAF1A	9015	broad.mit.edu	37	chr1	222732018	222732018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtatcagagtcttggatttAcaatactgtattttttcaca	6	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222732018A>G	ENST00000350027.4	-	11	1490	c.1337T>C	c.(1336-1338)gTa>gCa	p.V446A	TAF1A_ENST00000366890.1_Missense_Mutation_p.V332A|TAF1A_ENST00000391882.1_Missense_Mutation_p.V332A|TAF1A_ENST00000352967.4_Missense_Mutation_p.V446A	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	446					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TCTTGGATTTACAATACTGTA	0.308													False	0	True	1:222732018	0	G	222732018	A	G	222732018	3	3	88	1	0	0	0	0	1	0	0	0	15601	391	14	4	19	4	TAF1A	1	222732018	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10720	222732018	26518603	1757	9469											
MIA3	375056	broad.mit.edu	37	chr1	222818937	222818937	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcagcctgggcctgaTttttatggactgccatggaa	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222818937T>C	ENST00000344922.5	+	7	3544	c.3519T>C	c.(3517-3519)gaT>gaC	p.D1173D	MIA3_ENST00000340535.7_Silent_p.D51D|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.D1173D|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1173					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTGGGCCTGATTTTTATGGAC	0.378													False	0	True	1:222818937	0	C	222818937	T	C	222818937	2	2	88	1	0	0	0	0	0	0	0	1	9632	1490	52	4		4	MIA3	1	222818937	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86919	222818937	26431684	1758	9470											
DISP1	84976	broad.mit.edu	37	chr1	223176548	223176548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaagcatcaccttgcagcaCgctgccctctccatgttcgt	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223176548C>T	ENST00000284476.6	+	8	1973	c.1809C>T	c.(1807-1809)caC>caT	p.H603H		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	603	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCTTGCAGCACGCTGCCCTCT	0.448													False	0	False	1:223176548	0	T	223176548	C	T	223176548	2	4	88	1	0	0	0	0	0	0	0	1	4569	535	19	1		1	DISP1	1	223176548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	357611	223176548	26074073	1759	9471											
DISP1	84976	broad.mit.edu	37	chr1	223178682	223178682	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccaaaacggcgtggcacctCtgaaggccacacaccaagct	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223178682C>A	ENST00000284476.6	+	8	4107	c.3943C>A	c.(3943-3945)Ctg>Atg	p.L1315M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1315					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CGTGGCACCTCTGAAGGCCAC	0.592													False	0	False	1:223178682	0	A	223178682	C	A	223178682	3	1	88	1	0	0	0	0	1	0	0	0	4569	912	32	3	3969	3	DISP1	1	223178682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2134	223178682	26071939	1760	9472											
DISP1	84976	broad.mit.edu	37	chr1	223178953	223178953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggatcgttactcaaaaCgtgttgcgaccccgagaata	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223178953C>T	ENST00000284476.6	+	8	4378	c.4214C>T	c.(4213-4215)aCg>aTg	p.T1405M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1405					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.T1405M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTACTCAAAACGTGTTGCGAC	0.468													False	0	True	1:223178953	0	T	223178953	C	T	223178953	3	4	88	1	0	0	0	0	1	0	0	0	4569	536	19	1	4240	1	DISP1	1	223178953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271	223178953	26071668	1761	9473											
TLR5	7100	broad.mit.edu	37	chr1	223284113	223284113	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctcacaagacaaacgAtctttctactgttccagatg	7	11	4	2	rs150499113		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223284113A>C	ENST00000540964.1	-	4	2722	c.2261T>G	c.(2260-2262)aTc>aGc	p.I754S	TLR5_ENST00000342210.6_Missense_Mutation_p.I754S			O60602	TLR5_HUMAN	toll-like receptor 5	754	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAGACAAACGATCTTTCTACT	0.473													False	0	False	1:223284113	0	C	223284113	A	C	223284113	3	2	88	1	0	0	0	0	1	0	0	0	16036	333	12	4	319	4	TLR5	1	223284113	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105160	223284113	25966508	1762	9474											
TLR5	7100	broad.mit.edu	37	chr1	223285335	223285335	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgtaaagttcccccagaaGgttatatgacaaattgagaa	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223285335G>T	ENST00000540964.1	-	4	1500	c.1039C>A	c.(1039-1041)Ctt>Att	p.L347I	TLR5_ENST00000342210.6_Missense_Mutation_p.L347I			O60602	TLR5_HUMAN	toll-like receptor 5	347					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCCCCCAGAAGGTTATATGAC	0.363													False	0	False	1:223285335	0	T	223285335	G	T	223285335	3	4	88	1	0	0	0	0	1	0	0	0	16036	1000	35	3	1541	3	TLR5	1	223285335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1222	223285335	25965286	1763	9475											
SUSD4	55061	broad.mit.edu	37	chr1	223408411	223408411	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctgatgtgtgggaaataAaggacagggaaaagatgttc	13	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223408411A>C	ENST00000344029.6	-	6	901	c.756T>G	c.(754-756)ctT>ctG	p.L252L	SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000343846.3_Intron|SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000494793.2_Intron	NM_001037175.2	NP_001032252.1	Q5VX71	SUSD4_HUMAN	sushi domain containing 4	0	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GTGGGAAATAAAGGACAGGGA	0.403													False	0	True	1:223408411	0	C	223408411	A	C	223408411	2	2	88	1	0	0	0	0	0	0	0	1	15492	1	1	4		4	SUSD4	1	223408411	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	123076	223408411	25842210	1764	9476											
SUSD4	55061	broad.mit.edu	37	chr1	223441990	223441990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcttgttatgaatctcaGcatcttcgatttgagggata	9	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223441990G>A	ENST00000343846.3	-	3	1022	c.389C>T	c.(388-390)gCt>gTt	p.A130V	SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.A130V|SUSD4_ENST00000484758.2_Missense_Mutation_p.A59V|SUSD4_ENST00000366878.4_Missense_Mutation_p.A130V|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Missense_Mutation_p.A130V			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	130	Sushi 2.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATGAATCTCAGCATCTTCGAT	0.388													False	0	False	1:223441990	0	A	223441990	G	A	223441990	3	1	88	1	0	0	0	0	1	0	0	0	15492	971	34	2	1260	2	SUSD4	1	223441990	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33579	223441990	25808631	1765	9477											
SUSD4	55061	broad.mit.edu	37	chr1	223465901	223465901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttggcagtgaaatcgggCtacagagccttcaaagaaaa	11	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223465901C>A	ENST00000343846.3	-	2	874	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.A81S|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000366878.4_Missense_Mutation_p.A81S|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Missense_Mutation_p.A81S			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	81	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGAAATCGGGCTACAGAGCCT	0.512													False	0	True	1:223465901	0	A	223465901	C	A	223465901	3	1	88	1	0	0	0	0	1	0	0	0	15492	797	28	3	1412	3	SUSD4	1	223465901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23911	223465901	25784720	1766	9478											
C1orf65	164127	broad.mit.edu	37	chr1	223567616	223567616	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggccctggtgctgacccgtCtcaagaaggcccagaggata	13	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223567616C>T	ENST00000366875.3	+	1	902	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	267										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCTGACCCGTCTCAAGAAGGC	0.632													False	0	False	1:223567616	0	T	223567616	C	T	223567616	3	4	88	1	0	0	0	0	1	0	0	0	2071	913	32	2	801	2	C1orf65	1	223567616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101715	223567616	25683005	1767	9479											
TP53BP2	7159	broad.mit.edu	37	chr1	223983554	223983554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccggtgatttcaggcgggCgcatgctcaccgagtcttct	13	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223983554C>T	ENST00000391878.2	-	14	3068	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Missense_Mutation_p.R129H|TP53BP2_ENST00000343537.7_Missense_Mutation_p.R896H	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	890					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTCAGGCGGGCGCATGCTCAC	0.537													False	0	True	1:223983554	0	T	223983554	C	T	223983554	3	4	88	1	0	0	0	0	1	0	0	0	16467	768	27	1	741	1	TP53BP2	1	223983554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415938	223983554	25267067	1768	9480											
DEGS1	8560	broad.mit.edu	37	chr1	224380108	224380108	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaagtactgtatgatttTgtgatggatgatacaataag	9	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224380108T>G	ENST00000323699.4	+	3	1066	c.900T>G	c.(898-900)ttT>ttG	p.F300L	DEGS1_ENST00000391877.3_Missense_Mutation_p.F300L	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	300					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		TGTATGATTTTGTGATGGATG	0.388													False	0	True	1:224380108	0	G	224380108	T	G	224380108	3	3	88	1	0	0	0	0	1	0	0	0	4452	1809	63	4	910	4	DEGS1	1	224380108	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	396554	224380108	24870513	1769	9481											
WDR26	80232	broad.mit.edu	37	chr1	224599257	224599257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctgctgcgtataacatgGgaactgcctcctaaaacaaa	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224599257G>A	ENST00000414423.2	-	7	1223	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	WDR26_ENST00000295024.6_Missense_Mutation_p.P197S|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	344						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GTATAACATGGGAACTGCCTC	0.333													False	0	True	1:224599257	0	A	224599257	G	A	224599257	3	1	88	1	0	0	0	0	1	0	0	0	17367	1232	43	2	987	2	WDR26	1	224599257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219149	224599257	24651364	1770	9482											
WDR26	80232	broad.mit.edu	37	chr1	224619244	224619244	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccacaatagcatgaggagAatgcactaaaggctttagtt	9	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224619244A>C	ENST00000414423.2	-	3	755	c.562T>G	c.(562-564)Tct>Gct	p.S188A	WDR26_ENST00000295024.6_Missense_Mutation_p.S41A|WDR26_ENST00000366852.2_Missense_Mutation_p.S188A	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	188	CTLH.					cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GCATGAGGAGAATGCACTAAA	0.338													False	0	False	1:224619244	0	C	224619244	A	C	224619244	3	2	88	1	0	0	0	0	1	0	0	0	17367	246	9	4	1471	4	WDR26	1	224619244	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19987	224619244	24631377	1771	9483											
LBR	3930	broad.mit.edu	37	chr1	225591097	225591097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacagtggtactcgtcacGagcttctcggtggacaagca	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:225591097G>A	ENST00000338179.2	-	14	1881	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	LBR_ENST00000272163.4_Missense_Mutation_p.R586C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	586					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TACTCGTCACGAGCTTCTCGG	0.403													False	0	False	1:225591097	0	A	225591097	G	A	225591097	3	1	88	1	0	0	0	0	1	0	0	0	8703	1058	37	1	95	1	LBR	1	225591097	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	971853	225591097	23659524	1772	9484											
EPHX1	2052	broad.mit.edu	37	chr1	226027621	226027621	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacagcgtttcgggaggtttCttggcctcactgagagggat	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226027621C>A	ENST00000366837.4	+	6	1010	c.814C>A	c.(814-816)Ctt>Att	p.L272I	EPHX1_ENST00000272167.5_Missense_Mutation_p.L272I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	272					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CGGGAGGTTTCTTGGCCTCAC	0.547													False	0	True	1:226027621	0	A	226027621	C	A	226027621	3	1	88	1	0	0	0	0	1	0	0	0	5211	913	32	3	832	3	EPHX1	1	226027621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	436524	226027621	23223000	1773	9485											
LEFTY2	7044	broad.mit.edu	37	chr1	226127113	226127113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctggggctccccaagccCggctggcgccccctgcgagg	15	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226127113C>T	ENST00000366820.5	-	3	1033	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	LEFTY2_ENST00000420304.2_Missense_Mutation_p.G195R	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	229					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TCCCCAAGCCCGGCTGGCGCC	0.692													False	0	True	1:226127113	0	T	226127113	C	T	226127113	3	4	88	1	0	0	0	0	1	0	0	0	8767	652	23	1	423	1	LEFTY2	1	226127113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99492	226127113	23123508	1774	9486											
LEFTY2	7044	broad.mit.edu	37	chr1	226128787	226128787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcggtcagggccgccccGgggccagccaggggcagcac	16	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226128787G>A	ENST00000366820.5	-	1	402	c.54C>T	c.(52-54)ccC>ccT	p.P18P	LEFTY2_ENST00000420304.2_Silent_p.P18P	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	18					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGCCGCCCCGGGGCCAGCCA	0.711													False	0	True	1:226128787	0	A	226128787	G	A	226128787	2	1	88	1	0	0	0	0	0	0	0	1	8767	1103	39	1		1	LEFTY2	1	226128787	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1674	226128787	23121834	1775	9487											
ACBD3	64746	broad.mit.edu	37	chr1	226347059	226347059	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagctgccattatctgctgCctaaaaacattaaaaatata	4	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226347059C>A	ENST00000366812.5	-	5	783	c.729G>T	c.(727-729)aaG>aaT	p.K243N	ACBD3_ENST00000464927.1_Intron	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	243	Gln-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TTATCTGCTGCCTAAAAACAT	0.388													False	0	False	1:226347059	0	A	226347059	C	A	226347059	5	1	88	1	0	0	0	0	0	0	1	0	123	753	26	3	873	3	ACBD3	1	226347059	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218272	226347059	22903562	1776	9488											
MIXL1	83881	broad.mit.edu	37	chr1	226413401	226413401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttggagggggcatctctgActctagctcccaaggtcaga	14	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226413401A>G	ENST00000366810.5	+	2	651	c.587A>G	c.(586-588)gAc>gGc	p.D196G	MIXL1_ENST00000542034.1_Missense_Mutation_p.D204G|MIXL1_ENST00000557734.1_Intron			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	196					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GGCATCTCTGACTCTAGCTCC	0.512													False	0	False	1:226413401	0	G	226413401	A	G	226413401	3	3	88	1	0	0	0	0	1	0	0	0	9664	275	10	4	593	4	MIXL1	1	226413401	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66342	226413401	22837220	1777	9489											
MIXL1	83881	broad.mit.edu	37	chr1	226413512	226413512	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctgcctttggtaacttttGaggattctgggagaattcgg	12	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226413512G>A	ENST00000366810.5	+	2	762	c.698G>A	c.(697-699)tGa>tAa	p.*233*	MIXL1_ENST00000542034.1_Silent_p.*241*|MIXL1_ENST00000557734.1_3'UTR			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	0					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GGTAACTTTTGAGGATTCTGG	0.468													False	0	True	1:226413512	0	A	226413512	G	A	226413512	2	1	88	1	0	0	0	0	0	0	0	1	9664	1304	45	2		2	MIXL1	1	226413512	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	226413512	22837109	1778	9490											
LIN9	286826	broad.mit.edu	37	chr1	226454009	226454009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccaaaggcagcaattgGcattgtctcatgaggttcat	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226454009G>A	ENST00000328205.5	-	9	1434	c.889C>T	c.(889-891)Cca>Tca	p.P297S	LIN9_ENST00000366801.1_Missense_Mutation_p.P246S|LIN9_ENST00000481685.1_Missense_Mutation_p.P262S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	281					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GCAGCAATTGGCATTGTCTCA	0.363													False	0	False	1:226454009	0	A	226454009	G	A	226454009	3	1	88	1	0	0	0	0	1	0	0	0	8866	1203	42	2	815	2	LIN9	1	226454009	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40497	226454009	22796612	1779	9491											
PARP1	142	broad.mit.edu	37	chr1	226553752	226553752	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagaatctctgtcaaccAcctggataaacagaatcttg	6	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226553752A>G	ENST00000366794.5	-	18	2551	c.2408T>C	c.(2407-2409)gTg>gCg	p.V803A	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	803	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCTGTCAACCACCTGGATAAA	0.453								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					False	0	False	1:226553752	0	G	226553752	A	G	226553752	5	3	88	1	0	0	0	0	0	0	1	0	11522	173	6	4	660	4	PARP1	1	226553752	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	99743	226553752	22696869	1780	9492											
PARP1	142	broad.mit.edu	37	chr1	226566902	226566902	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggagttggttcctttaacGatgtccaccaggccaagggt	12	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226566902G>A	ENST00000366794.5	-	12	1829	c.1686C>T	c.(1684-1686)atC>atT	p.I562I		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	562					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTCCTTTAACGATGTCCACCA	0.537								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					False	0	False	1:226566902	0	A	226566902	G	A	226566902	2	1	88	1	0	0	0	0	0	0	0	1	11522	1048	37	1		1	PARP1	1	226566902	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13150	226566902	22683719	1781	9493											
PARP1	142	broad.mit.edu	37	chr1	226573298	226573298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgcagtaataggcatcGctcttgaagaccagctgacc	10	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226573298G>A	ENST00000366794.5	-	7	1061	c.918C>T	c.(916-918)agC>agT	p.S306S		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	306					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	p.S306S(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AATAGGCATCGCTCTTGAAGA	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					False	0	False	1:226573298	0	A	226573298	G	A	226573298	2	1	88	1	0	0	0	0	0	0	0	1	11522	1078	38	1		1	PARP1	1	226573298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6396	226573298	22677323	1782	9494											
PARP1	142	broad.mit.edu	37	chr1	226589969	226589969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctgctggtcatcccaccGaagctcagagaacccatcca	7	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226589969G>A	ENST00000366794.5	-	2	375	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	PARP1_ENST00000366792.1_Missense_Mutation_p.R78W|PARP1_ENST00000366790.3_Missense_Mutation_p.R78W|PARP1_ENST00000366791.5_Missense_Mutation_p.R78W	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	78					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCATCCCACCGAAGCTCAGAG	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					False	0	False	1:226589969	0	A	226589969	G	A	226589969	3	1	88	1	0	0	0	0	1	0	0	0	11522	1057	37	1	2900	1	PARP1	1	226589969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16671	226589969	22660652	1783	9495											
ITPKB	3707	broad.mit.edu	37	chr1	226834905	226834905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtccatcacacagggcgagtCgaagtcggccagcaggtcgt	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226834905C>T	ENST00000429204.1	-	4	2536	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N	ITPKB_ENST00000272117.3_Missense_Mutation_p.D737N	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	737							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAGGGCGAGTCGAAGTCGGCC	0.607													False	0	False	1:226834905	0	T	226834905	C	T	226834905	3	4	88	1	0	0	0	0	1	0	0	0	7968	884	31	1	651	1	ITPKB	1	226834905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244936	226834905	22415716	1784	9496											
ITPKB	3707	broad.mit.edu	37	chr1	226835049	226835049	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgactcacagtgcttcttcaGgatcctgccattggcagctg	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226835049G>T	ENST00000429204.1	-	4	2392	c.2065C>A	c.(2065-2067)Ctg>Atg	p.L689M	ITPKB_ENST00000272117.3_Missense_Mutation_p.L689M	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	689							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGCTTCTTCAGGATCCTGCCA	0.602													False	0	False	1:226835049	0	T	226835049	G	T	226835049	3	4	88	1	0	0	0	0	1	0	0	0	7968	991	35	3	795	3	ITPKB	1	226835049	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144	226835049	22415572	1785	9497											
ITPKB	3707	broad.mit.edu	37	chr1	226835077	226835077	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattggcagctgccttgaaActccctggagagcaagtgta	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226835077A>C	ENST00000429204.1	-	4	2364	c.2037T>G	c.(2035-2037)agT>agG	p.S679R	ITPKB_ENST00000272117.3_Missense_Mutation_p.S679R	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	679							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTGCCTTGAAACTCCCTGGAG	0.622													False	0	True	1:226835077	0	C	226835077	A	C	226835077	3	2	88	1	0	0	0	0	1	0	0	0	7968	40	2	4	823	4	ITPKB	1	226835077	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28	226835077	22415544	1786	9498											
ITPKB	3707	broad.mit.edu	37	chr1	226925067	226925067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggggcgggggcgtctcGctgccactgggccccgggcc	19	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226925067G>A	ENST00000429204.1	-	2	420	c.93C>T	c.(91-93)agC>agT	p.S31S	ITPKB_ENST00000366784.1_Silent_p.S31S|ITPKB_ENST00000272117.3_Silent_p.S31S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	31							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGGGCGTCTCGCTGCCACTGG	0.662													False	0	False	1:226925067	0	A	226925067	G	A	226925067	2	1	88	1	0	0	0	0	0	0	0	1	7968	1078	38	1		1	ITPKB	1	226925067	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89990	226925067	22325554	1787	9499											
PSEN2	5664	broad.mit.edu	37	chr1	227077790	227077790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaatgctggtagaaactgCccaggagagaaatgagccca	13	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227077790C>T	ENST00000366782.1	+	9	1441	c.941C>T	c.(940-942)gCc>gTc	p.A314V	PSEN2_ENST00000422240.2_Missense_Mutation_p.A281V|PSEN2_ENST00000391872.2_Missense_Mutation_p.A314V|PSEN2_ENST00000366783.3_Missense_Mutation_p.A281V|PSEN2_ENST00000472139.2_Missense_Mutation_p.A137V|PSEN2_ENST00000340188.4_Intron			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	281					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GTAGAAACTGCCCAGGAGAGA	0.582													False	0	True	1:227077790	0	T	227077790	C	T	227077790	3	4	88	1	0	0	0	0	1	0	0	0	12727	739	26	2	864	2	PSEN2	1	227077790	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152723	227077790	22172831	1788	9500											
CDC42BPA	8476	broad.mit.edu	37	chr1	227210999	227210999	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatatattaatctaatgGtctccaaccctaaaagattt	4	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227210999G>T	ENST00000366769.3	-	31	5766	c.4475C>A	c.(4474-4476)aCc>aAc	p.T1492N	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1505N|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1464N|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1527N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1492N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1472N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T1411N	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1505	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAATCTAATGGTCTCCAACCC	0.274													False	0	False	1:227210999	0	T	227210999	G	T	227210999	3	4	88	1	0	0	0	0	1	0	0	0	3095	1261	44	3	708	3	CDC42BPA	1	227210999	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133209	227210999	22039622	1789	9501											
CDC42BPA	8476	broad.mit.edu	37	chr1	227216862	227216862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaaaaagtcgtacatgacGatttcgtcctgagatcacag	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227216862G>A	ENST00000366769.3	-	29	5114	c.3823C>T	c.(3823-3825)Cgt>Tgt	p.R1275C	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1288C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1247C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1310C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1275C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1255C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1194C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1288	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CGTACATGACGATTTCGTCCT	0.393													False	0	False	1:227216862	0	A	227216862	G	A	227216862	3	1	88	1	0	0	0	0	1	0	0	0	3095	1058	37	1	1368	1	CDC42BPA	1	227216862	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5863	227216862	22033759	1790	9502											
CDC42BPA	8476	broad.mit.edu	37	chr1	227261640	227261640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttggctcttatttctgcaTccagagccgactgcaactcc	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227261640T>C	ENST00000366769.3	-	19	3951	c.2660A>G	c.(2659-2661)gAt>gGt	p.D887G	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D887G|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D887G|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D887G|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D806G	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	887					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TATTTCTGCATCCAGAGCCGA	0.393													False	0	False	1:227261640	0	C	227261640	T	C	227261640	3	2	88	1	0	0	0	0	1	0	0	0	3095	1435	50	4	2571	4	CDC42BPA	1	227261640	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44778	227261640	21988981	1791	9503											
CDC42BPA	8476	broad.mit.edu	37	chr1	227333377	227333377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgctacaaatgagccttCgaataagatccttagcattt	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227333377C>T	ENST00000366769.3	-	8	2247	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R319Q	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	319	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AATGAGCCTTCGAATAAGATC	0.368													False	0	False	1:227333377	0	T	227333377	C	T	227333377	3	4	88	1	0	0	0	0	1	0	0	0	3095	884	31	1	4319	1	CDC42BPA	1	227333377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71737	227333377	21917244	1792	9504											
ZNF678	339500	broad.mit.edu	37	chr1	227843057	227843057	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaacctcactcagcataaaaGaattcatactggagagaaac	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227843057G>T	ENST00000343776.5	+	4	1451	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	ZNF678_ENST00000397097.3_Missense_Mutation_p.R424I|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R369I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CAGCATAAAAGAATTCATACT	0.388													False	0	True	1:227843057	0	T	227843057	G	T	227843057	3	4	88	1	0	0	0	0	1	0	0	0	18168	942	33	3	1285	3	ZNF678	1	227843057	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	509680	227843057	21407564	1793	9505											
SNAP47	116841	broad.mit.edu	37	chr1	227954674	227954674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagcatctgggctgatgGgccgtaccctgcaccgtgag	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227954674G>A	ENST00000366759.4	+	4	1552	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S	SNAP47_ENST00000366760.1_Missense_Mutation_p.G138S|SNAP47_ENST00000315781.5_Missense_Mutation_p.G380S	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	380						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGGCTGATGGGCCGTACCCT	0.607													False	0	True	1:227954674	0	A	227954674	G	A	227954674	3	1	88	1	0	0	0	0	1	0	0	0	14912	1232	43	2	1152	2	SNAP47	1	227954674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111617	227954674	21295947	1794	9506											
WNT9A	7483	broad.mit.edu	37	chr1	228109546	228109546	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgccggcagcttcattGgtggtgctgcccaccttgag	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228109546G>T	ENST00000272164.5	-	4	781	c.771C>A	c.(769-771)acC>acA	p.T257T		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	257					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CAGCTTCATTGGTGGTGCTGC	0.677													False	0	False	1:228109546	0	T	228109546	G	T	228109546	2	4	88	1	0	0	0	0	0	0	0	1	17482	1335	47	3		3	WNT9A	1	228109546	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154872	228109546	21141075	1795	9507											
WNT3A	89780	broad.mit.edu	37	chr1	228246984	228246984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgggctccttcggcacgCgcgaccgcacctgcaacgtc	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228246984C>T	ENST00000284523.1	+	4	955	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	WNT3A_ENST00000366753.2_Missense_Mutation_p.R293C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	293					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTTCGGCACGCGCGACCGCAC	0.692													False	0	True	1:228246984	0	T	228246984	C	T	228246984	3	4	88	1	0	0	0	0	1	0	0	0	17473	768	27	1	891	1	WNT3A	1	228246984	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137438	228246984	21003637	1796	9508											
ARF1	375	broad.mit.edu	37	chr1	228285130	228285130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatccggcccctgtggcGccactacttccagaacacac	8	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228285130G>A	ENST00000541182.1	+	3	498	c.236G>A	c.(235-237)cGc>cAc	p.R79H	ARF1_ENST00000540651.1_Missense_Mutation_p.R79H|ARF1_ENST00000272102.5_Missense_Mutation_p.R79H|ARF1_ENST00000478424.1_3'UTR	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	79					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCCCTGTGGCGCCACTACTTC	0.602													False	0	False	1:228285130	0	A	228285130	G	A	228285130	3	1	88	1	0	0	0	0	1	0	0	0	846	1087	38	1	242	1	ARF1	1	228285130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38146	228285130	20965491	1797	9509											
GJC2	57165	broad.mit.edu	37	chr1	228345534	228345534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactccaccttcgtgggcaaGgtgtggctcacggtgctggt	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228345534G>T	ENST00000366714.2	+	2	250	c.75G>T	c.(73-75)aaG>aaT	p.K25N		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	25					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TCGTGGGCAAGGTGTGGCTCA	0.647													False	0	False	1:228345534	0	T	228345534	G	T	228345534	3	4	88	1	0	0	0	0	1	0	0	0	6460	991	35	3	77	3	GJC2	1	228345534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60404	228345534	20905087	1798	9510											
GJC2	57165	broad.mit.edu	37	chr1	228345635	228345635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagttcacttgcaacacgcGgcagccaggctgcgacaacg	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228345635G>A	ENST00000366714.2	+	2	351	c.176G>A	c.(175-177)cGg>cAg	p.R59Q		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	59					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TGCAACACGCGGCAGCCAGGC	0.642													False	0	False	1:228345635	0	A	228345635	G	A	228345635	3	1	88	1	0	0	0	0	1	0	0	0	6460	1116	39	1	178	1	GJC2	1	228345635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101	228345635	20904986	1799	9511											
OBSCN	84033	broad.mit.edu	37	chr1	228437821	228437821	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgagctccagctcgaaagttCgaatggaggctgtgggctgc	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228437821C>A	ENST00000570156.2	+	15	4539	c.4465C>A	c.(4465-4467)Cga>Aga	p.R1489R	OBSCN_ENST00000284548.11_Silent_p.R1397R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.R1397R|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	467	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCGAAAGTTCGAATGGAGGC	0.672													False	0	False	1:228437821	0	A	228437821	C	A	228437821	2	1	88	1	0	0	0	0	0	0	0	1	10880	876	31	3		3	OBSCN	1	228437821	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92186	228437821	20812800	1800	9512											
OBSCN	84033	broad.mit.edu	37	chr1	228444434	228444434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcaccacactcagctgCgaggtggctcaggcccagac	12	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228444434C>T	ENST00000570156.2	+	16	4742	c.4668C>T	c.(4666-4668)tgC>tgT	p.C1556C	OBSCN_ENST00000284548.11_Silent_p.C1464C|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.C1464C|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.C28C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	533	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACTCAGCTGCGAGGTGGCTC	0.637													False	0	False	1:228444434	0	T	228444434	C	T	228444434	2	4	88	1	0	0	0	0	0	0	0	1	10880	776	27	1		1	OBSCN	1	228444434	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6613	228444434	20806187	1801	9513											
OBSCN	84033	broad.mit.edu	37	chr1	228456263	228456263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgccaaggagcagccaGcacacagggaggtgcaggct	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228456263G>T	ENST00000570156.2	+	19	5520	c.5446G>T	c.(5446-5448)Gca>Tca	p.A1816S	OBSCN_ENST00000284548.11_Missense_Mutation_p.A1632S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1632S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A288S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	803	Ig-like 18.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGCAGCCAGCACACAGGGA	0.627													False	0	True	1:228456263	0	T	228456263	G	T	228456263	3	4	88	1	0	0	0	0	1	0	0	0	10880	971	34	3	4956	3	OBSCN	1	228456263	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11829	228456263	20794358	1802	9514											
OBSCN	84033	broad.mit.edu	37	chr1	228459737	228459737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctgagctgcgaggtggCccaagcccagacggaggtta	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228459737C>T	ENST00000570156.2	+	20	5875	c.5801C>T	c.(5800-5802)gCc>gTc	p.A1934V	OBSCN_ENST00000366709.4_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.A406V|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	915	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCGAGGTGGCCCAAGCCCAG	0.622													False	0	True	1:228459737	0	T	228459737	C	T	228459737	3	4	88	1	0	0	0	0	1	0	0	0	10880	754	26	2		2	OBSCN	1	228459737	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3474	228459737	20790884	1803	9515											
OBSCN	84033	broad.mit.edu	37	chr1	228459771	228459771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggttatgtggtacaaggaCgggaagaagctgagctccag	16	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228459771C>T	ENST00000570156.2	+	20	5909	c.5835C>T	c.(5833-5835)gaC>gaT	p.D1945D	OBSCN_ENST00000366709.4_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Silent_p.D417D|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	926	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTACAAGGACGGGAAGAAGC	0.657													False	0	True	1:228459771	0	T	228459771	C	T	228459771	2	4	88	1	0	0	0	0	0	0	0	1	10880	551	19	1		1	OBSCN	1	228459771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34	228459771	20790850	1804	9516											
OBSCN	84033	broad.mit.edu	37	chr1	228459903	228459903	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgggggccagcggctctcCttccatctgcatgtggctgg	15	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228459903C>A	ENST00000570156.2	+	20	6041	c.5967C>A	c.(5965-5967)tcC>tcA	p.S1989S	OBSCN_ENST00000366709.4_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Silent_p.S461S|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	970	Ig-like 20.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCGGCTCTCCTTCCATCTGC	0.652													False	0	False	1:228459903	0	A	228459903	C	A	228459903	2	1	88	1	0	0	0	0	0	0	0	1	10880	696	24	3		3	OBSCN	1	228459903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132	228459903	20790718	1805	9517											
OBSCN	84033	broad.mit.edu	37	chr1	228462512	228462512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgtggaggctgagggcGcctcatcctctgctgccctg	13	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228462512G>A	ENST00000570156.2	+	24	7122	c.7048G>A	c.(7048-7050)Gcc>Acc	p.A2350T	OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A822T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1975T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1975T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1335	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCTGAGGGCGCCTCATCCTC	0.657													False	0	False	1:228462512	0	A	228462512	G	A	228462512	3	1	88	1	0	0	0	0	1	0	0	0	10880	1087	38	1	5997	1	OBSCN	1	228462512	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2609	228462512	20788109	1806	9518											
OBSCN	84033	broad.mit.edu	37	chr1	228469832	228469832	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcctggtggtccgggaggCtgcaccaagtgatgccgggg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228469832C>A	ENST00000570156.2	+	36	9757	c.9683C>A	c.(9682-9684)gCt>gAt	p.A3228D	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A1646D|OBSCN_ENST00000422127.1_Missense_Mutation_p.A2799D|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2799D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2262	Ig-like 32.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCCGGGAGGCTGCACCAAGT	0.657													False	0	False	1:228469832	0	A	228469832	C	A	228469832	3	1	88	1	0	0	0	0	1	0	0	0	10880	797	28	3	8514	3	OBSCN	1	228469832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7320	228469832	20780789	1807	9519											
OBSCN	84033	broad.mit.edu	37	chr1	228471427	228471427	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcgacacctatacctgCgacattggccaggcccagtc	10	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228471427C>T	ENST00000570156.2	+	38	10322	c.10248C>T	c.(10246-10248)tgC>tgT	p.C3416C	OBSCN_ENST00000366709.4_Silent_p.C106C|OBSCN_ENST00000366707.4_Silent_p.C106C|OBSCN_ENST00000359599.6_Silent_p.C1834C|OBSCN_ENST00000422127.1_Silent_p.C2987C|OBSCN_ENST00000284548.11_Silent_p.C2987C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2451	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.C3270C(1)|p.C3041C(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTATACCTGCGACATTGGCC	0.647													False	0	False	1:228471427	0	T	228471427	C	T	228471427	2	4	88	1	0	0	0	0	0	0	0	1	10880	776	27	1		1	OBSCN	1	228471427	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1595	228471427	20779194	1808	9520											
OBSCN	84033	broad.mit.edu	37	chr1	228476588	228476588	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgccactctcaccgtgaaGggtaatgactgctcctggcc	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228476588G>T	ENST00000570156.2	+	43	11699	c.11625G>T	c.(11623-11625)aaG>aaT	p.K3875N	OBSCN_ENST00000366709.4_Splice_Site_p.K565N|OBSCN_ENST00000366707.4_Splice_Site_p.K565N|OBSCN_ENST00000359599.6_Splice_Site_p.K2293N|OBSCN_ENST00000422127.1_Splice_Site_p.K3446N|OBSCN_ENST00000284548.11_Splice_Site_p.K3446N	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2912	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCACCGTGAAGGGTAATGACT	0.602													False	0	True	1:228476588	0	T	228476588	G	T	228476588	5	4	88	1	0	0	0	0	0	0	1	0	10880	1014	35	3	10484	3	OBSCN	1	228476588	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5161	228476588	20774033	1809	9521											
OBSCN	84033	broad.mit.edu	37	chr1	228481232	228481232	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggccaggtgtgagctgcaGatccgcggcctcgtggcaga	18	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228481232G>A	ENST00000570156.2	+	46	12407	c.12333G>A	c.(12331-12333)caG>caA	p.Q4111Q	OBSCN_ENST00000366709.4_Silent_p.Q801Q|OBSCN_ENST00000366707.4_Silent_p.Q801Q|OBSCN_ENST00000359599.6_Silent_p.Q2529Q|OBSCN_ENST00000422127.1_Silent_p.Q3682Q|OBSCN_ENST00000284548.11_Silent_p.Q3682Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3153	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGAGCTGCAGATCCGCGGCC	0.637													False	0	False	1:228481232	0	A	228481232	G	A	228481232	2	1	88	1	0	0	0	0	0	0	0	1	10880	933	33	2		2	OBSCN	1	228481232	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4644	228481232	20769389	1810	9522											
OBSCN	84033	broad.mit.edu	37	chr1	228494991	228494991	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagttcaagacccggcttcaGagtctggagcaggagacagg	14	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228494991G>T	ENST00000570156.2	+	57	15170	c.15096G>T	c.(15094-15096)caG>caT	p.Q5032H	OBSCN_ENST00000366709.4_Missense_Mutation_p.Q1194H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q1709H|OBSCN_ENST00000422127.1_Missense_Mutation_p.Q4075H|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4075H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4075					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCGGCTTCAGAGTCTGGAGC	0.622													False	0	False	1:228494991	0	T	228494991	G	T	228494991	3	4	88	1	0	0	0	0	1	0	0	0	10880	933	33	3	12403	3	OBSCN	1	228494991	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13759	228494991	20755630	1811	9523											
OBSCN	84033	broad.mit.edu	37	chr1	228504445	228504445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggagcctctgaaaaacGcggcggtccgggccggcgca	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228504445G>A	ENST00000570156.2	+	62	16266	c.16192G>A	c.(16192-16194)Gcg>Acg	p.A5398T	OBSCN_ENST00000366709.4_Missense_Mutation_p.A1560T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2075T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4441T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4441T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4441	Ig-like 51.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTGAAAAACGCGGCGGTCCG	0.672													False	0	False	1:228504445	0	A	228504445	G	A	228504445	3	1	88	1	0	0	0	0	1	0	0	0	10880	1087	38	1	13519	1	OBSCN	1	228504445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9454	228504445	20746176	1812	9524											
OBSCN	84033	broad.mit.edu	37	chr1	228511297	228511297	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctccaccaaggctgagctCcgtgtggactgtgagtactg	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228511297C>T	ENST00000570156.2	+	67	18587	c.18513C>T	c.(18511-18513)ctC>ctT	p.L6171L	OBSCN_ENST00000366709.4_Silent_p.L2333L|OBSCN_ENST00000366707.4_Silent_p.L2848L|OBSCN_ENST00000422127.1_Silent_p.L5214L|OBSCN_ENST00000284548.11_Silent_p.L5214L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5214	Ig-like 53.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCTGAGCTCCGTGTGGACT	0.587													False	0	False	1:228511297	0	T	228511297	C	T	228511297	2	4	88	1	0	0	0	0	0	0	0	1	10880	842	30	2		2	OBSCN	1	228511297	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6852	228511297	20739324	1813	9525											
OBSCN	84033	broad.mit.edu	37	chr1	228525846	228525846	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggacaggaggctcaagGtatctgaatggccaggcagg	15	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228525846G>A	ENST00000570156.2	+	78	19946		c.e78+1		OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000422127.1_Splice_Site|OBSCN_ENST00000284548.11_Splice_Site	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGCTCAAGGTATCTGAATG	0.682													False	0	False	1:228525846	0	A	228525846	G	A	228525846	5	1	88	1	0	0	0	0	0	0	1	0	10880	1275	44	2	17264	2	OBSCN	1	228525846	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14549	228525846	20724775	1814	9526											
OBSCN	84033	broad.mit.edu	37	chr1	228547313	228547313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagagaagagaccatcacCactgtggtgaagagcccacg	11	13	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228547313C>T	ENST00000284548.11	+	81	18794	c.18720C>T	c.(18718-18720)acC>acT	p.T6240T	OBSCN_ENST00000366709.4_Silent_p.T3359T|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron	NM_052843.3	NP_443075.3	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6240					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGACCATCACCACTGTGGTGA	0.647													False	0	False	1:228547313	0	T	228547313	C	T	228547313	2	4	88	1	0	0	0	0	0	0	0	1	10880	581	21	2		2	OBSCN	1	228547313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21467	228547313	20703308	1815	9527											
OBSCN	84033	broad.mit.edu	37	chr1	228547333	228547333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtggtgaagagcccacGtggccaacgacggtccccca	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228547333G>A	ENST00000284548.11	+	81	18814	c.18740G>A	c.(18739-18741)cGt>cAt	p.R6247H	OBSCN_ENST00000366709.4_Missense_Mutation_p.R3366H|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron	NM_052843.3	NP_443075.3	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6248					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGAGCCCACGTGGCCAACGA	0.672													False	0	False	1:228547333	0	A	228547333	G	A	228547333	3	1	88	1	0	0	0	0	1	0	0	0	10880	1145	40	1	19058	1	OBSCN	1	228547333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	228547333	20703288	1816	9528											
OBSCN	84033	broad.mit.edu	37	chr1	228550349	228550349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggccccaaggcgccagGcccctccacaggggacctca	13	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228550349G>A	ENST00000570156.2	+	91	21679	c.21605G>A	c.(21604-21606)gGc>gAc	p.G7202D	OBSCN_ENST00000366707.4_Missense_Mutation_p.G3879D|OBSCN_ENST00000422127.1_Missense_Mutation_p.G6245D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6245					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGGCGCCAGGCCCCTCCACA	0.677													False	0	True	1:228550349	0	A	228550349	G	A	228550349	3	1	88	1	0	0	0	0	1	0	0	0	10880	1203	42	2	20258	2	OBSCN	1	228550349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3016	228550349	20700272	1817	9529											
OBSCN	84033	broad.mit.edu	37	chr1	228553839	228553839	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaggcggaacggcccaattCgaggctatcattgagggcga	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228553839C>T	ENST00000570156.2	+	94	22073	c.21999C>T	c.(21997-21999)ttC>ttT	p.F7333F	OBSCN_ENST00000366707.4_Silent_p.F4010F|OBSCN_ENST00000422127.1_Silent_p.F6376F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6376					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGCCCAATTCGAGGCTATCA	0.632													False	0	False	1:228553839	0	T	228553839	C	T	228553839	2	4	88	1	0	0	0	0	0	0	0	1	10880	883	31	1		1	OBSCN	1	228553839	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3490	228553839	20696782	1818	9530											
OBSCN	84033	broad.mit.edu	37	chr1	228559352	228559352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctggcacccacttggcccCtggccacagccactccctgg	9	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559352C>A	ENST00000570156.2	+	105	23818	c.23744C>A	c.(23743-23745)cCt>cAt	p.P7915H	OBSCN_ENST00000366707.4_Missense_Mutation_p.P4592H|OBSCN_ENST00000422127.1_Missense_Mutation_p.P6958H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6958	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACTTGGCCCCTGGCCACAGC	0.711													False	0	True	1:228559352	0	A	228559352	C	A	228559352	3	1	88	1	0	0	0	0	1	0	0	0	10880	681	24	3	22453	3	OBSCN	1	228559352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5513	228559352	20691269	1819	9531											
OBSCN	84033	broad.mit.edu	37	chr1	228559429	228559429	+	Nonsense_Mutation	SNP	C	C	T													aggcctgcggtgaggcacagCgactgccttcagccccctcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559429C>T	ENST00000570156.2	+	105	23895	c.23821C>T	c.(23821-23823)Cga>Tga	p.R7941*	OBSCN_ENST00000366707.4_Nonsense_Mutation_p.R4618*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.R6984*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6984					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGGCACAGCGACTGCCTTC	0.697													False	0	False	1:228559429	0	T	228559429	C	T	228559429	4	4	88	1	0	0	0	0	0	1	0	0	10880	760	27	1	22530	1	OBSCN	1	228559429	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	228559429	20691192	1820	9532	149	2									
OBSCN	84033	broad.mit.edu	37	chr1	228559432	228559432	+	Silent	SNP	C	C	T													cctgcggtgaggcacagcgaCtgccttcagccccctccggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559432C>T	ENST00000570156.2	+	105	23898	c.23824C>T	c.(23824-23826)Ctg>Ttg	p.L7942L	OBSCN_ENST00000366707.4_Silent_p.L4619L|OBSCN_ENST00000422127.1_Silent_p.L6985L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6985					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCACAGCGACTGCCTTCAGC	0.692													False	0	False	1:228559432	0	T	228559432	C	T	228559432	2	4	88	1	0	0	0	0	0	0	0	1	10880	564	20	2		2	OBSCN	1	228559432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	228559432	20691189	1821	9533	149	2									
OBSCN	84033	broad.mit.edu	37	chr1	228565678	228565678	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgttccacagacagacatCtgggccatcggtgtgacagc	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228565678C>A	ENST00000570156.2	+	114	26489	c.26415C>A	c.(26413-26415)atC>atA	p.I8805I	OBSCN_ENST00000366707.4_Silent_p.I5484I|OBSCN_ENST00000422127.1_Silent_p.I7850I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7850					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGACAGACATCTGGGCCATCG	0.647													False	0	False	1:228565678	0	A	228565678	C	A	228565678	2	1	88	1	0	0	0	0	0	0	0	1	10880	903	32	3		3	OBSCN	1	228565678	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6246	228565678	20684943	1822	9534											
TRIM11	81559	broad.mit.edu	37	chr1	228594211	228594212	+	Frame_Shift_Ins	INS	-	-	GGCGC													gtgaagtagtcgaggcagatINSggcgcaggtggcctcctcct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228594211_228594212insGGCGC	ENST00000284551.6	-	1	329_330	c.51_52insGCGCC	c.(49-54)gccatcfs	p.I18fs	TRIM11_ENST00000366699.3_Frame_Shift_Ins_p.I18fs	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	18					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TCGAGGCAGATGGCGCAGGTGG	0.713													False	1	False	1:228594211	0	GGCGC	228594212	-	GGCGC	228594211	7	5	88	1	0	1	1	0	0	0	0	0	16570	1464	51	0	1378	0	TRIM11	1	228594211	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	28533	228594211	20656410	1823	9535											
TRIM17	51127	broad.mit.edu	37	chr1	228595985	228595985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaagaaaggctgcagggGgcctgggaaggtggcctggg	21	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228595985G>A	ENST00000366697.2	-	6	2307	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.P451S|TRIM17_ENST00000295033.3_Missense_Mutation_p.P451S			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	451	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GGCTGCAGGGGGCCTGGGAAG	0.592													False	0	True	1:228595985	0	A	228595985	G	A	228595985	3	1	88	1	0	0	0	0	1	0	0	0	16576	1232	43	2	86	2	TRIM17	1	228595985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1774	228595985	20654636	1824	9536											
TRIM17	51127	broad.mit.edu	37	chr1	228596798	228596798	+	Frame_Shift_Del	DEL	C	C	-													accccccccattggtggcttCcgaggctagggggtacagtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228596798delC	ENST00000456946.2	-	6	1333	c.958delG	c.(958-960)gaafs	p.E320fs	RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000295033.3_Intron|TRIM17_ENST00000366698.2_Intron	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TTGGTGGCTTCCGAGGCTAGG	0.577													False	2	False	1:228596798	0	-	228596798	C	-	228596798	7	5	88	1	0	1	0	1	0	0	0	0	16576	864	30	0	632	0	TRIM17	1	228596798	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	813	228596798	20653823	1825	9537											
HIST3H2BB	128312	broad.mit.edu	37	chr1	228646088	228646088	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcctggcacactacaacaaGcgctccaccatcacgtcccg	7	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228646088G>T	ENST00000369160.2	+	1	281	c.258G>T	c.(256-258)aaG>aaT	p.K86N		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	86					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				ACTACAACAAGCGCTCCACCA	0.647													False	0	False	1:228646088	0	T	228646088	G	T	228646088	3	4	88	1	0	0	0	0	1	0	0	0	7230	962	34	3	260	3	HIST3H2BB	1	228646088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49290	228646088	20604533	1826	9538											
HIST3H2BB	128312	broad.mit.edu	37	chr1	228646167	228646167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctggccaagcacgccgtgTccgagggcaccaaggctgtc	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228646167T>C	ENST00000369160.2	+	1	360	c.337T>C	c.(337-339)Tcc>Ccc	p.S113P		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	113					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				GCACGCCGTGTCCGAGGGCAC	0.637													False	0	False	1:228646167	0	C	228646167	T	C	228646167	3	2	88	1	0	0	0	0	1	0	0	0	7230	1667	58	4	339	4	HIST3H2BB	1	228646167	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79	228646167	20604454	1827	9539											
RAB4A	5867	broad.mit.edu	37	chr1	229433282	229433282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagatgcccgaatgctagCgagccagaacattgtgatca	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229433282C>T	ENST00000366690.4	+	5	552	c.344C>T	c.(343-345)gCg>gTg	p.A115V	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	110							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				CGAATGCTAGCGAGCCAGAAC	0.388													False	0	False	1:229433282	0	T	229433282	C	T	229433282	3	4	88	1	0	0	0	0	1	0	0	0	13025	768	27	1	362	1	RAB4A	1	229433282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	787115	229433282	19817339	1828	9540											
ACTA1	58	broad.mit.edu	37	chr1	229567884	229567884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgttctcgaagtccaggGccacgtagcacagcttctcc	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229567884G>A	ENST00000366684.3	-	5	767	c.665C>T	c.(664-666)gCc>gTc	p.A222V	ACTA1_ENST00000366683.2_Missense_Mutation_p.A134V	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	222					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GAAGTCCAGGGCCACGTAGCA	0.657													False	0	True	1:229567884	0	A	229567884	G	A	229567884	3	1	88	1	0	0	0	0	1	0	0	0	191	1203	42	2	480	2	ACTA1	1	229567884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134602	229567884	19682737	1829	9541											
ACTA1	58	broad.mit.edu	37	chr1	229568761	229568761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggggcggcccacgatggaCgggaacacggccctaggggc	19	13	0	0	rs147303135		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229568761C>T	ENST00000366684.3	-	2	204	c.102G>A	c.(100-102)ccG>ccA	p.P34P	ACTA1_ENST00000366683.2_Silent_p.P34P	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	34					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	CCACGATGGACGGGAACACGG	0.721													False	0	True	1:229568761	0	T	229568761	C	T	229568761	2	4	88	1	0	0	0	0	0	0	0	1	191	523	19	1		1	ACTA1	1	229568761	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	877	229568761	19681860	1830	9542											
ACTA1	58	broad.mit.edu	37	chr1	229568793	229568793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaggggcgtcatccccggCgaagccggctttcaccaggc	13	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229568793C>T	ENST00000366684.3	-	2	172	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	ACTA1_ENST00000366683.2_Missense_Mutation_p.A24T	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	24					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TCATCCCCGGCGAAGCCGGCT	0.682													False	0	False	1:229568793	0	T	229568793	C	T	229568793	3	4	88	1	0	0	0	0	1	0	0	0	191	768	27	1	1087	1	ACTA1	1	229568793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32	229568793	19681828	1831	9543											
ABCB10	23456	broad.mit.edu	37	chr1	229661725	229661725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaaccacagtgttgaaccCttgggggaaattccggatga	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229661725C>A	ENST00000344517.4	-	10	1906	c.1864G>T	c.(1864-1866)Ggg>Tgg	p.G622W		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	622	ABC transporter.			FIRNFPQG -> SPEFPPR (in Ref. 6; AAA84438).		integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GTGTTGAACCCTTGGGGGAAA	0.478													False	0	True	1:229661725	0	A	229661725	C	A	229661725	3	1	88	1	0	0	0	0	1	0	0	0	41	681	24	3	368	3	ABCB10	1	229661725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92932	229661725	19588896	1832	9544											
ABCB10	23456	broad.mit.edu	37	chr1	229675332	229675332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacgatcaggtttccggagaGcccagtctgtcgaatgaaga	12	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229675332G>T	ENST00000344517.4	-	6	1252	c.1210C>A	c.(1210-1212)Ctc>Atc	p.L404I		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	404	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TTTCCGGAGAGCCCAGTCTGT	0.493													False	0	True	1:229675332	0	T	229675332	G	T	229675332	3	4	88	1	0	0	0	0	1	0	0	0	41	971	34	3	1038	3	ABCB10	1	229675332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13607	229675332	19575289	1833	9545											
TAF5L	27097	broad.mit.edu	37	chr1	229738419	229738419	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagctgtcttcttggagacgGaccacgtacttgttatctag	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229738419G>A	ENST00000366675.3	-	4	583	c.495C>T	c.(493-495)gtC>gtT	p.V165V	TAF5L_ENST00000258281.2_Silent_p.V165V|TAF5L_ENST00000366676.1_Silent_p.V165V	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	165					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTGGAGACGGACCACGTACT	0.463													False	0	False	1:229738419	0	A	229738419	G	A	229738419	2	1	88	1	0	0	0	0	0	0	0	1	15611	1161	41	2		2	TAF5L	1	229738419	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63087	229738419	19512202	1834	9546											
URB2	9816	broad.mit.edu	37	chr1	229773865	229773865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggagttgccagctctcGcgggacatgatcagtctttt	12	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229773865G>A	ENST00000258243.2	+	4	3641	c.3505G>A	c.(3505-3507)Gcg>Acg	p.A1169T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1169						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCCAGCTCTCGCGGGACATGA	0.522													False	0	False	1:229773865	0	A	229773865	G	A	229773865	3	1	88	1	0	0	0	0	1	0	0	0	17109	1087	38	1	3515	1	URB2	1	229773865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35446	229773865	19476756	1835	9547											
URB2	9816	broad.mit.edu	37	chr1	229790133	229790133	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtacgtgttggaggtacagAaggtaaaattgggttcaatg	14	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229790133A>G	ENST00000258243.2	+	9	4511	c.4375A>G	c.(4375-4377)Aag>Gag	p.K1459E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1459						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGAGGTACAGAAGGTAAAATT	0.478													False	0	False	1:229790133	0	G	229790133	A	G	229790133	3	3	88	1	0	0	0	0	1	0	0	0	17109	247	9	4	4405	4	URB2	1	229790133	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16268	229790133	19460488	1836	9548											
URB2	9816	broad.mit.edu	37	chr1	229795022	229795022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacaaggccaaacatgaagGagagaaaagatatacggcct	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229795022G>A	ENST00000258243.2	+	10	4689	c.4553G>A	c.(4552-4554)gGa>gAa	p.G1518E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1518						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AAACATGAAGGAGAGAAAAGA	0.507													False	0	True	1:229795022	0	A	229795022	G	A	229795022	3	1	88	1	0	0	0	0	1	0	0	0	17109	1174	41	2	4587	2	URB2	1	229795022	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4889	229795022	19455599	1837	9549											
GALNT2	2590	broad.mit.edu	37	chr1	230391082	230391082	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgggtggcagtggcactgtCtttgcccggtaagtagtgaa	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230391082C>A	ENST00000541865.1	+	9	940	c.754C>A	c.(754-756)Ctt>Att	p.L252I	GALNT2_ENST00000543760.1_Silent_p.V338V|GALNT2_ENST00000366672.4_Silent_p.V376V			Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	0					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTGGCACTGTCTTTGCCCGGT	0.582													False	0	True	1:230391082	0	A	230391082	C	A	230391082	3	1	88	1	0	0	0	0	1	0	0	0	6256	900	32	3	1170	3	GALNT2	1	230391082	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	596060	230391082	18859539	1838	9550											
GALNT2	2590	broad.mit.edu	37	chr1	230398351	230398351	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcagaggtctggatggAtgaatacaaaaatttctatt	11	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230398351A>G	ENST00000366672.4	+	12	1241	c.1169A>G	c.(1168-1170)gAt>gGt	p.D390G	GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000543760.1_Missense_Mutation_p.D352G|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000541865.1_Silent_p.G265G	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	390					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTCTGGATGGATGAATACAAA	0.433													False	0	True	1:230398351	0	G	230398351	A	G	230398351	3	3	88	1	0	0	0	0	1	0	0	0	6256	333	12	4	1215	4	GALNT2	1	230398351	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7269	230398351	18852270	1839	9551											
GALNT2	2590	broad.mit.edu	37	chr1	230415072	230415072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaacagatcgagggcaaCtccaagctgaggcacgtggg	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230415072C>T	ENST00000366672.4	+	16	1656	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000543760.1_Silent_p.N490N	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	528	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TCGAGGGCAACTCCAAGCTGA	0.587													False	0	False	1:230415072	0	T	230415072	C	T	230415072	2	4	88	1	0	0	0	0	0	0	0	1	6256	564	20	2		2	GALNT2	1	230415072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16721	230415072	18835549	1840	9552											
PGBD5	79605	broad.mit.edu	37	chr1	230472895	230472895	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcgtcaggctggtgatgCtgggccccgtgaaaatgatg	15	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230472895C>A	ENST00000321327.2	-	6	1123	c.1124G>T	c.(1123-1125)aGc>aTc	p.S375I	PGBD5_ENST00000525115.1_Missense_Mutation_p.S276I|PGBD5_ENST00000391860.1_Missense_Mutation_p.S230I			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	276						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GCTGGTGATGCTGGGCCCCGT	0.587													False	0	False	1:230472895	0	A	230472895	C	A	230472895	3	1	88	1	0	0	0	0	1	0	0	0	11853	797	28	3	556	3	PGBD5	1	230472895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57823	230472895	18777726	1841	9553											
PGBD5	79605	broad.mit.edu	37	chr1	230503803	230503803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaatactccctggaaggCtgggtctttttagctctgtg	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230503803C>T	ENST00000321327.2	-	2	211	c.212G>A	c.(211-213)aGc>aAc	p.S71N	PGBD5_ENST00000525115.1_Intron|PGBD5_ENST00000391860.1_Intron			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	0						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CCCTGGAAGGCTGGGTCTTTT	0.562													False	0	False	1:230503803	0	T	230503803	C	T	230503803	3	4	88	1	0	0	0	0	1	0	0	0	11853	812	28	2		2	PGBD5	1	230503803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30908	230503803	18746818	1842	9554											
COG2	22796	broad.mit.edu	37	chr1	230805179	230805179	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccttcagacgtctgacgtCgatataatacggcactgctt	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230805179C>T	ENST00000534989.1	+	7	830	c.495C>T	c.(493-495)gtC>gtT	p.V165V	COG2_ENST00000366669.4_Silent_p.V224V|COG2_ENST00000535166.1_Silent_p.V108V|COG2_ENST00000366668.3_Silent_p.V224V			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	224					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGTCTGACGTCGATATAATAC	0.493													False	0	False	1:230805179	0	T	230805179	C	T	230805179	2	4	88	1	0	0	0	0	0	0	0	1	3681	871	31	1		1	COG2	1	230805179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	301376	230805179	18445442	1843	9555											
COG2	22796	broad.mit.edu	37	chr1	230805251	230805251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcggaggccttagttggCcaagtactagtgaaaccata	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230805251C>T	ENST00000534989.1	+	7	902	c.567C>T	c.(565-567)ggC>ggT	p.G189G	COG2_ENST00000366669.4_Silent_p.G248G|COG2_ENST00000535166.1_Silent_p.G132G|COG2_ENST00000366668.3_Silent_p.G248G			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	248					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCTTAGTTGGCCAAGTACTAG	0.483													False	0	False	1:230805251	0	T	230805251	C	T	230805251	2	4	88	1	0	0	0	0	0	0	0	1	3681	726	26	2		2	COG2	1	230805251	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72	230805251	18445370	1844	9556											
COG2	22796	broad.mit.edu	37	chr1	230820883	230820883	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaacttggagcagccttagGaggtgttggtcagatgagat	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230820883G>A	ENST00000534989.1	+	12	1439	c.1104G>A	c.(1102-1104)agG>agA	p.R368R	COG2_ENST00000366669.4_Silent_p.R427R|COG2_ENST00000535166.1_Silent_p.R311R|COG2_ENST00000366668.3_Silent_p.R427R|COG2_ENST00000546013.1_Silent_p.R116R			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	427					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCAGCCTTAGGAGGTGTTGGT	0.438													False	0	False	1:230820883	0	A	230820883	G	A	230820883	2	1	88	1	0	0	0	0	0	0	0	1	3681	1165	41	2		2	COG2	1	230820883	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15632	230820883	18429738	1845	9557											
AGT	183	broad.mit.edu	37	chr1	230846565	230846565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggctcacaccggcaggaGccatctcagactggggtgct	13	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230846565G>T	ENST00000366667.4	-	2	246	c.32C>A	c.(31-33)gCt>gAt	p.A11D	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	11					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	ACCGGCAGGAGCCATCTCAGA	0.567													False	0	False	1:230846565	0	T	230846565	G	T	230846565	3	4	88	1	0	0	0	0	1	0	0	0	399	971	34	3	1441	3	AGT	1	230846565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25682	230846565	18404056	1846	9558											
TRIM67	440730	broad.mit.edu	37	chr1	231339671	231339671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgtaacaacagcgtcacGctggcctggaggatgccacc	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231339671G>A	ENST00000444294.3	+	6	2445	c.1587G>A	c.(1585-1587)acG>acA	p.T529T	TRIM67_ENST00000449018.3_Silent_p.T469T|TRIM67_ENST00000366652.2_Silent_p.T531T|TRIM67_ENST00000366653.5_Silent_p.T531T	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	531	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ACAGCGTCACGCTGGCCTGGA	0.652													False	0	False	1:231339671	0	A	231339671	G	A	231339671	2	1	88	1	0	0	0	0	0	0	0	1	16623	1074	38	1		1	TRIM67	1	231339671	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493106	231339671	17910950	1847	9559											
DISC1	27185	broad.mit.edu	37	chr1	231829955	231829955	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcaagagtttgcagccatgGatagttctgagaccctggac	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231829955G>T	ENST00000439617.2	+	2	504	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	DISC1_ENST00000537876.1_Missense_Mutation_p.D151Y|DISC1_ENST00000539444.1_Missense_Mutation_p.D151Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000602281.1_Missense_Mutation_p.D151Y|DISC1_ENST00000366633.3_Missense_Mutation_p.D151Y|DISC1_ENST00000317586.4_Missense_Mutation_p.D151Y|DISC1_ENST00000366636.4_Missense_Mutation_p.D151Y|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.D151Y|TSNAX-DISC1_ENST00000602962.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	151	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGCAGCCATGGATAGTTCTGA	0.612													False	0	False	1:231829955	0	T	231829955	G	T	231829955	3	4	88	1	0	0	0	0	1	0	0	0	4568	1174	41	3	457	3	DISC1	1	231829955	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	490284	231829955	17420666	1848	9560											
SIPA1L2	57568	broad.mit.edu	37	chr1	232534934	232534934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttccgcagctgagctgtcGcggtctgggactcctcctgc	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232534934G>A	ENST00000366630.1	-	22	5466	c.5108C>T	c.(5107-5109)gCg>gTg	p.A1703V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1703V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A759V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1703					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGAGCTGTCGCGGTCTGGGA	0.517													False	0	False	1:232534934	0	A	232534934	G	A	232534934	3	1	88	1	0	0	0	0	1	0	0	0	14411	1087	38	1	64	1	SIPA1L2	1	232534934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704979	232534934	16715687	1849	9561											
SIPA1L2	57568	broad.mit.edu	37	chr1	232596697	232596697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagtcacagaagtacggaGcaggtcgatcatctgctcgt	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232596697G>T	ENST00000366630.1	-	9	3389	c.3031C>A	c.(3031-3033)Ctc>Atc	p.L1011I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.L1011I|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.L85I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1011	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGTACGGAGCAGGTCGATC	0.602													False	0	False	1:232596697	0	T	232596697	G	T	232596697	3	4	88	1	0	0	0	0	1	0	0	0	14411	971	34	3	2193	3	SIPA1L2	1	232596697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61763	232596697	16653924	1850	9562											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650124	232650124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgctgacaattccaagggCgaatgcccctctccagtcgg	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232650124C>T	ENST00000366630.1	-	2	1320	c.962G>A	c.(961-963)cGc>cAc	p.R321H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R321H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	321					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATTCCAAGGGCGAATGCCCCT	0.468													False	0	True	1:232650124	0	T	232650124	C	T	232650124	3	4	88	1	0	0	0	0	1	0	0	0	14411	768	27	1	4290	1	SIPA1L2	1	232650124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53427	232650124	16600497	1851	9563											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650199	232650199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgctcacttttaacagttCgaagctttcggaagagagat	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232650199C>T	ENST00000366630.1	-	2	1245	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R296Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	296					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTAACAGTTCGAAGCTTTCG	0.502													False	0	False	1:232650199	0	T	232650199	C	T	232650199	3	4	88	1	0	0	0	0	1	0	0	0	14411	884	31	1	4365	1	SIPA1L2	1	232650199	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75	232650199	16600422	1852	9564											
PCNXL2	80003	broad.mit.edu	37	chr1	233122221	233122221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggggccagatgagctcaGcatgggcggcctttggctta	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233122221G>A	ENST00000258229.9	-	33	6091	c.5857C>T	c.(5857-5859)Ctg>Ttg	p.L1953L	PCNXL2_ENST00000344698.2_Silent_p.L605L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)		Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GATGAGCTCAGCATGGGCGGC	0.602													False	0	False	1:233122221	0	A	233122221	G	A	233122221	2	1	88	1	0	0	0	0	0	0	0	1	11660	962	34	2		2	PCNXL2	1	233122221	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	472022	233122221	16128400	1853	9565											
PCNXL2	80003	broad.mit.edu	37	chr1	233134991	233134991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtaccccaggggctgatcGcaggaggagttaatcaagtt	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233134991G>A	ENST00000258229.9	-	31	5697	c.5463C>T	c.(5461-5463)tgC>tgT	p.C1821C	PCNXL2_ENST00000344698.2_Silent_p.C473C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGGCTGATCGCAGGAGGAGT	0.547													False	0	False	1:233134991	0	A	233134991	G	A	233134991	2	1	88	1	0	0	0	0	0	0	0	1	11660	1079	38	1		1	PCNXL2	1	233134991	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12770	233134991	16115630	1854	9566											
PCNXL2	80003	broad.mit.edu	37	chr1	233136143	233136143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtgccgcagggtgagcaGctcttccttgttggacagca	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233136143G>A	ENST00000258229.9	-	30	5470	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	PCNXL2_ENST00000344698.2_Silent_p.L398L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGTGAGCAGCTCTTCCTTG	0.607													False	0	False	1:233136143	0	A	233136143	G	A	233136143	2	1	88	1	0	0	0	0	0	0	0	1	11660	962	34	2		2	PCNXL2	1	233136143	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1152	233136143	16114478	1855	9567											
PCNXL2	80003	broad.mit.edu	37	chr1	233136192	233136192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaggccgggtcgccctcGtggcagatgaccaccttctt	12	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233136192G>A	ENST00000258229.9	-	30	5421	c.5187C>T	c.(5185-5187)caC>caT	p.H1729H	PCNXL2_ENST00000344698.2_Silent_p.H381H	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGTCGCCCTCGTGGCAGATGA	0.622													False	0	False	1:233136192	0	A	233136192	G	A	233136192	2	1	88	1	0	0	0	0	0	0	0	1	11660	1136	40	1		1	PCNXL2	1	233136192	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49	233136192	16114429	1856	9568											
PCNXL2	80003	broad.mit.edu	37	chr1	233192981	233192981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagagatcttcttacctgGatctctttcaatttggactg	8	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233192981G>A	ENST00000258229.9	-	24	4366	c.4132C>T	c.(4132-4134)Cca>Tca	p.P1378S	PCNXL2_ENST00000344698.2_Missense_Mutation_p.P30S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCTTACCTGGATCTCTTTCA	0.393													False	0	False	1:233192981	0	A	233192981	G	A	233192981	3	1	88	1	0	0	0	0	1	0	0	0	11660	1174	41	2	2325	2	PCNXL2	1	233192981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56789	233192981	16057640	1857	9569											
PCNXL2	80003	broad.mit.edu	37	chr1	233344327	233344327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcttcaggccatacacaaCgtaactgggagggtgcctgg	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233344327C>T	ENST00000258229.9	-	13	3034	c.2800G>A	c.(2800-2802)Gtt>Att	p.V934I	PCNXL2_ENST00000488780.2_Missense_Mutation_p.V67I|PCNXL2_ENST00000430153.1_Missense_Mutation_p.V233I	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCATACACAACGTAACTGGGA	0.448													False	0	False	1:233344327	0	T	233344327	C	T	233344327	3	4	88	1	0	0	0	0	1	0	0	0	11660	536	19	1	3701	1	PCNXL2	1	233344327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	151346	233344327	15906294	1858	9570											
KCNK1	3775	broad.mit.edu	37	chr1	233802529	233802529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcaggtggtggccatcGtccatgccgtgctccttggg	14	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233802529G>A	ENST00000366621.3	+	2	712	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	KCNK1_ENST00000366620.1_Missense_Mutation_p.V66I|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	182						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GGTGGCCATCGTCCATGCCGT	0.607													False	0	False	1:233802529	0	A	233802529	G	A	233802529	3	1	88	1	0	0	0	0	1	0	0	0	8108	1145	40	1	550	1	KCNK1	1	233802529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	458202	233802529	15448092	1859	9571											
KCNK1	3775	broad.mit.edu	37	chr1	233802583	233802583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcttcttcttcatcccgGccgctgtcttctcagtcctg	7	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233802583G>A	ENST00000366621.3	+	2	766	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	KCNK1_ENST00000366620.1_Missense_Mutation_p.A84T|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	200						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CTTCATCCCGGCCGCTGTCTT	0.532													False	0	False	1:233802583	0	A	233802583	G	A	233802583	3	1	88	1	0	0	0	0	1	0	0	0	8108	1203	42	2	604	2	KCNK1	1	233802583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	233802583	15448038	1860	9572											
SLC35F3	148641	broad.mit.edu	37	chr1	234041356	234041356	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcagctcaagtacttggtGgtggacgaggcgattaagga	16	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234041356G>T	ENST00000366618.3	+	2	280	c.135G>T	c.(133-135)gtG>gtT	p.V45V		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGTACTTGGTGGTGGACGAGG	0.657													False	0	True	1:234041356	0	T	234041356	G	T	234041356	2	4	88	1	0	0	0	0	0	0	0	1	14670	1335	47	3		3	SLC35F3	1	234041356	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238773	234041356	15209265	1861	9573											
TARBP1	6894	broad.mit.edu	37	chr1	234529405	234529405	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actttacctcctaaattggtCggtttgtcgatgagcgaggc	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234529405C>T	ENST00000040877.1	-	27	4421	c.4422G>A	c.(4420-4422)ccG>ccA	p.P1474P	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1474					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTAAATTGGTCGGTTTGTCGA	0.453													False	0	False	1:234529405	0	T	234529405	C	T	234529405	2	4	88	1	0	0	0	0	0	0	0	1	15637	871	31	1		1	TARBP1	1	234529405	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	488049	234529405	14721216	1862	9574											
TARBP1	6894	broad.mit.edu	37	chr1	234586199	234586199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcagatgacttaacataCtcttgaacaatgctctttac	5	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234586199C>T	ENST00000040877.1	-	10	1835	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	612					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACTTAACATACTCTTGAACAA	0.328													False	0	False	1:234586199	0	T	234586199	C	T	234586199	2	4	88	1	0	0	0	0	0	0	0	1	15637	564	20	2		2	TARBP1	1	234586199	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56794	234586199	14664422	1863	9575											
TARBP1	6894	broad.mit.edu	37	chr1	234603362	234603362	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacattcttttataaatAcacatatgccaggatgggtg	7	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234603362A>G	ENST00000040877.1	-	4	1133	c.1134T>C	c.(1132-1134)tgT>tgC	p.C378C		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	378					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTTTATAAATACACATATGCC	0.353													False	0	False	1:234603362	0	G	234603362	A	G	234603362	2	3	88	1	0	0	0	0	0	0	0	1	15637	389	14	4		4	TARBP1	1	234603362	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17163	234603362	14647259	1864	9576											
IRF2BP2	359948	broad.mit.edu	37	chr1	234743036	234743036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagctccctgctgtttgatGctttgtctggagcaagggaa	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234743036G>A	ENST00000366609.3	-	2	1641	c.1611C>T	c.(1609-1611)agC>agT	p.S537S	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Silent_p.S521S|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	537	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCTGTTTGATGCTTTGTCTGG	0.567													False	0	False	1:234743036	0	A	234743036	G	A	234743036	2	1	88	1	0	0	0	0	0	0	0	1	7880	1310	46	2		2	IRF2BP2	1	234743036	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139674	234743036	14507585	1865	9577											
IRF2BP2	359948	broad.mit.edu	37	chr1	234743289	234743289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcggactgttgctattcCtcctggtagtggagtgaacc	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234743289C>A	ENST00000366609.3	-	2	1388	c.1358G>T	c.(1357-1359)aGg>aTg	p.R453M	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R437M|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GTTGCTATTCCTCCTGGTAGT	0.587													False	0	False	1:234743289	0	A	234743289	C	A	234743289	3	1	88	1	0	0	0	0	1	0	0	0	7880	681	24	3	409	3	IRF2BP2	1	234743289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253	234743289	14507332	1866	9578											
IRF2BP2	359948	broad.mit.edu	37	chr1	234744193	234744193	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcacagccgcccctacCtgctttagacccgttggccc	7	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234744193C>T	ENST00000366609.3	-	1	1078	c.1048G>A	c.(1048-1050)Gtt>Att	p.V350I	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Intron	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CCGCCCCTACCTGCTTTAGAC	0.592													False	0	False	1:234744193	0	T	234744193	C	T	234744193	5	4	88	1	0	0	0	0	0	0	1	0	7880	695	24	2	723	2	IRF2BP2	1	234744193	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	904	234744193	14506428	1867	9579											
ARID4B	51742	broad.mit.edu	37	chr1	235345456	235345456	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaatacttgaccagacAtcttttcgatctttggccct	6	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235345456A>G	ENST00000264183.3	-	20	3275	c.2778T>C	c.(2776-2778)gaT>gaC	p.D926D	ARID4B_ENST00000349213.3_Silent_p.D840D|ARID4B_ENST00000366603.2_Silent_p.D926D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	926					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTGACCAGACATCTTTTCGAT	0.423													False	0	False	1:235345456	0	G	235345456	A	G	235345456	2	3	88	1	0	0	0	0	0	0	0	1	922	214	8	4		4	ARID4B	1	235345456	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	601263	235345456	13905165	1868	9580											
ARID4B	51742	broad.mit.edu	37	chr1	235359344	235359344	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtaaaaacaagcacttAcctttattttcttccgatgt	5	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235359344A>G	ENST00000264183.3	-	18	2424		c.e18+1		ARID4B_ENST00000349213.3_Splice_Site|ARID4B_ENST00000366603.2_Splice_Site	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACAAGCACTTACCTTTATTTT	0.294													False	0	False	1:235359344	0	G	235359344	A	G	235359344	5	3	88	1	0	0	0	0	0	0	1	0	922	405	14	4	2038	4	ARID4B	1	235359344	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13888	235359344	13891277	1869	9581											
ARID4B	51742	broad.mit.edu	37	chr1	235359427	235359427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctttaatccattcatcGtatctaaaattaaaggaaat	4	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235359427G>A	ENST00000264183.3	-	18	2342	c.1845C>T	c.(1843-1845)taC>taT	p.Y615Y	ARID4B_ENST00000349213.3_Silent_p.Y529Y|ARID4B_ENST00000366603.2_Silent_p.Y615Y	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCATTCATCGTATCTAAAAT	0.274													False	0	False	1:235359427	0	A	235359427	G	A	235359427	2	1	88	1	0	0	0	0	0	0	0	1	922	1140	40	1		1	ARID4B	1	235359427	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	235359427	13891194	1870	9582											
B3GALNT2	148789	broad.mit.edu	37	chr1	235617568	235617568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggcagggtaagcggggCtcgggtactccaactcctgc	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235617568C>T	ENST00000366600.3	-	10	1439	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	404					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GTAAGCGGGGCTCGGGTACTC	0.507													False	0	True	1:235617568	0	T	235617568	C	T	235617568	3	4	88	1	0	0	0	0	1	0	0	0	1250	797	28	2	303	2	B3GALNT2	1	235617568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	258141	235617568	13633053	1871	9583											
B3GALNT2	148789	broad.mit.edu	37	chr1	235647766	235647766	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaactcacgctgacaactcGatcctcaggcagccccgatg	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235647766G>A	ENST00000366600.3	-	4	655	c.427C>T	c.(427-429)Cga>Tga	p.R143*	B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.R184*|B3GALNT2_ENST00000494378.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	143					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CTGACAACTCGATCCTCAGGC	0.448													False	0	False	1:235647766	0	A	235647766	G	A	235647766	4	1	88	1	0	0	0	0	0	1	0	0	1250	1066	37	1	1111	1	B3GALNT2	1	235647766	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30198	235647766	13602855	1872	9584											
LYST	1130	broad.mit.edu	37	chr1	235826308	235826308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagcgctgctggtccttccGacaccaggcaatcacggtcc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235826308G>A	ENST00000389794.3	-	53	11512	c.11338C>T	c.(11338-11340)Cgg>Tgg	p.R3780W	LYST_ENST00000389793.2_Missense_Mutation_p.R3780W|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3780					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGGTCCTTCCGACACCAGGCA	0.453													False	0	False	1:235826308	0	A	235826308	G	A	235826308	3	1	88	1	0	0	0	0	1	0	0	0	9191	1057	37	1	71	1	LYST	1	235826308	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178542	235826308	13424313	1873	9585											
LYST	1130	broad.mit.edu	37	chr1	235909723	235909723	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agttgcttggctagggttctCttggctcattctccgttgca	11	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235909723C>T	ENST00000389794.3	-	29	8059	c.7885G>A	c.(7885-7887)Gag>Aag	p.E2629K	LYST_ENST00000389793.2_Missense_Mutation_p.E2629K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2629					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTAGGGTTCTCTTGGCTCATT	0.438													False	0	False	1:235909723	0	T	235909723	C	T	235909723	3	4	88	1	0	0	0	0	1	0	0	0	9191	922	32	2	3620	2	LYST	1	235909723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83415	235909723	13340898	1874	9586											
LYST	1130	broad.mit.edu	37	chr1	235929524	235929525	+	Frame_Shift_Ins	INS	-	-	TAGGTAGGTAT													cttctgctataattttcacaINSaatgatctacaaacctctcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235929524_235929525insTAGGTAGGTAT	ENST00000389794.3	-	21	6149_6150	c.5975_5976insATACCTACCTA	c.(5974-5976)tttfs	p.F1992fs	LYST_ENST00000389793.2_Frame_Shift_Ins_p.F1992fs|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1992					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAATTTTCACAAATGATCTACA	0.351													False	0	True	1:235929524	0	TAGGTAGGTAT	235929525	-	TAGGTAGGTAT	235929524	7	5	88	1	0	1	1	0	0	0	0	0	9191	127	5	0	5561	0	LYST	1	235929524	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	19801	235929524	13321097	1875	9587	150	2									
LYST	1130	broad.mit.edu	37	chr1	235929526	235929527	+	Frame_Shift_Ins	INS	-	-	TCATTTT													tctgctataattttcacaaaINStgatctacaaacctctcggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235929526_235929527insTCATTTT	ENST00000389794.3	-	21	6147_6148	c.5973_5974insAAAATGA	c.(5971-5976)tcatttfs	p.F1992fs	LYST_ENST00000389793.2_Frame_Shift_Ins_p.F1992fs|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1992					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATTTTCACAAATGATCTACAAA	0.351													False	0	True	1:235929526	0	TCATTTT	235929527	-	TCATTTT	235929526	7	5	88	1	0	1	1	0	0	0	0	0	9191	101	4	0	5563	0	LYST	1	235929526	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	2	235929526	13321095	1876	9588	150	2									
LYST	1130	broad.mit.edu	37	chr1	235952092	235952092	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatatgaatacatccttcttCtatgagtctttcaccaggat	5	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235952092C>T	ENST00000389794.3	-	13	4771	c.4597G>A	c.(4597-4599)Gaa>Aaa	p.E1533K	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.E1533K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1533					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATCCTTCTTCTATGAGTCTT	0.393													False	0	False	1:235952092	0	T	235952092	C	T	235952092	3	4	88	1	0	0	0	0	1	0	0	0	9191	922	32	2	6972	2	LYST	1	235952092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22566	235952092	13298529	1877	9589											
LYST	1130	broad.mit.edu	37	chr1	235955384	235955384	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagggctcatagtagtAtcactttcaataattttcag	8	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235955384A>G	ENST00000389794.3	-	12	4332	c.4158T>C	c.(4156-4158)gaT>gaC	p.D1386D	LYST_ENST00000536965.1_Intron|LYST_ENST00000389793.2_Silent_p.D1386D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1386					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCATAGTAGTATCACTTTCAA	0.323													False	0	False	1:235955384	0	G	235955384	A	G	235955384	2	3	88	1	0	0	0	0	0	0	0	1	9191	446	16	4		4	LYST	1	235955384	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3292	235955384	13295237	1878	9590											
LYST	1130	broad.mit.edu	37	chr1	235964335	235964335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccccttgagtgaggttttCgagtaagtcatttggactgc	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235964335C>T	ENST00000389794.3	-	9	3949	c.3775G>A	c.(3775-3777)Gaa>Aaa	p.E1259K	LYST_ENST00000536965.1_Missense_Mutation_p.E1259K|LYST_ENST00000389793.2_Missense_Mutation_p.E1259K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1259					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTGAGGTTTTCGAGTAAGTCA	0.383													False	0	True	1:235964335	0	T	235964335	C	T	235964335	3	4	88	1	0	0	0	0	1	0	0	0	9191	893	31	1	7810	1	LYST	1	235964335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8951	235964335	13286286	1879	9591											
LYST	1130	broad.mit.edu	37	chr1	235969949	235969949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgaggcatctttctgttgCtcccctaggctgattatcag	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235969949C>A	ENST00000389794.3	-	6	2661	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	LYST_ENST00000536965.1_Missense_Mutation_p.E829D|LYST_ENST00000389793.2_Missense_Mutation_p.E829D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	829					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTTCTGTTGCTCCCCTAGGC	0.378													False	0	False	1:235969949	0	A	235969949	C	A	235969949	3	1	88	1	0	0	0	0	1	0	0	0	9191	796	28	3	9110	3	LYST	1	235969949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5614	235969949	13280672	1880	9592											
LYST	1130	broad.mit.edu	37	chr1	235970023	235970023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accatttaagcaatttaattCgattatttgacttactccat	3	8	0	1	rs80338647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235970023C>T	ENST00000389794.3	-	6	2587	c.2413G>A	c.(2413-2415)Gaa>Aaa	p.E805K	LYST_ENST00000536965.1_Missense_Mutation_p.E805K|LYST_ENST00000389793.2_Missense_Mutation_p.E805K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	805					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.E805K(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAATTTAATTCGATTATTTGA	0.318													False	0	False	1:235970023	0	T	235970023	C	T	235970023	3	4	88	1	0	0	0	0	1	0	0	0	9191	893	31	1	9184	1	LYST	1	235970023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	235970023	13280598	1881	9593											
LYST	1130	broad.mit.edu	37	chr1	235972089	235972089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatccactgctgggcaggaTcccttgaaatctgtaagaag	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235972089T>C	ENST00000389794.3	-	5	2203	c.2029A>G	c.(2029-2031)Atc>Gtc	p.I677V	LYST_ENST00000536965.1_Missense_Mutation_p.I677V|LYST_ENST00000389793.2_Missense_Mutation_p.I677V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	677					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGGGCAGGATCCCTTGAAAT	0.408													False	0	True	1:235972089	0	C	235972089	T	C	235972089	3	2	88	1	0	0	0	0	1	0	0	0	9191	1435	50	4	9572	4	LYST	1	235972089	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2066	235972089	13278532	1882	9594											
LYST	1130	broad.mit.edu	37	chr1	235973135	235973135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgcaacactgttcgaAagagcatcctttgaatcaaa	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235973135A>C	ENST00000389794.3	-	5	1157	c.983T>G	c.(982-984)tTt>tGt	p.F328C	LYST_ENST00000536965.1_Missense_Mutation_p.F328C|LYST_ENST00000389793.2_Missense_Mutation_p.F328C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	328					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CACTGTTCGAAAGAGCATCCT	0.448													False	0	True	1:235973135	0	C	235973135	A	C	235973135	3	2	88	1	0	0	0	0	1	0	0	0	9191	14	1	4	10618	4	LYST	1	235973135	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1046	235973135	13277486	1883	9595											
NID1	4811	broad.mit.edu	37	chr1	236141260	236141260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcataggtgggtgcagccGccattgttcactgagcagta	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236141260G>A	ENST00000264187.6	-	20	3733	c.3651C>T	c.(3649-3651)ggC>ggT	p.G1217G	NID1_ENST00000366595.3_Silent_p.G1084G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1217	EGF-like 6.				cell-matrix adhesion	basement membrane	calcium ion binding	p.G1217G(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGGTGCAGCCGCCATTGTTCA	0.512													False	0	False	1:236141260	0	A	236141260	G	A	236141260	2	1	88	1	0	0	0	0	0	0	0	1	10482	1074	38	1		1	NID1	1	236141260	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168125	236141260	13109361	1884	9596											
NID1	4811	broad.mit.edu	37	chr1	236157030	236157030	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtagccggtgctgccGtggcactgggtgggcgcgta	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236157030G>A	ENST00000264187.6	-	13	2752	c.2670C>T	c.(2668-2670)caC>caT	p.H890H	NID1_ENST00000366595.3_Silent_p.H757H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	890	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CGGTGCTGCCGTGGCACTGGG	0.711													False	0	False	1:236157030	0	A	236157030	G	A	236157030	2	1	88	1	0	0	0	0	0	0	0	1	10482	1136	40	1		1	NID1	1	236157030	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15770	236157030	13093591	1885	9597											
NID1	4811	broad.mit.edu	37	chr1	236157147	236157147	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagaatgtgttctcgctcGtgctggcaccgggttttctc	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236157147G>A	ENST00000264187.6	-	13	2635	c.2553C>T	c.(2551-2553)caC>caT	p.H851H	NID1_ENST00000366595.3_Silent_p.H718H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	851	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GTTCTCGCTCGTGCTGGCACC	0.627													False	0	True	1:236157147	0	A	236157147	G	A	236157147	2	1	88	1	0	0	0	0	0	0	0	1	10482	1136	40	1		1	NID1	1	236157147	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	236157147	13093474	1886	9598											
NID1	4811	broad.mit.edu	37	chr1	236205427	236205427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagggcgtggtgcccacatcCtccaggcccagacgagtggt	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236205427C>A	ENST00000264187.6	-	4	1000	c.918G>T	c.(916-918)gaG>gaT	p.E306D	NID1_ENST00000366595.3_Missense_Mutation_p.E306D	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	306					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGCCCACATCCTCCAGGCCCA	0.607													False	0	False	1:236205427	0	A	236205427	C	A	236205427	3	1	88	1	0	0	0	0	1	0	0	0	10482	680	24	3	2893	3	NID1	1	236205427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48280	236205427	13045194	1887	9599											
NID1	4811	broad.mit.edu	37	chr1	236212087	236212087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggctggaaagagatctccGggaaccctctgtggacacac	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236212087G>A	ENST00000264187.6	-	2	510	c.428C>T	c.(427-429)cCg>cTg	p.P143L	NID1_ENST00000366595.3_Missense_Mutation_p.P143L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	143	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGAGATCTCCGGGAACCCTCT	0.577													False	0	True	1:236212087	0	A	236212087	G	A	236212087	3	1	88	1	0	0	0	0	1	0	0	0	10482	1116	39	1	3391	1	NID1	1	236212087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6660	236212087	13038534	1888	9600											
NID1	4811	broad.mit.edu	37	chr1	236212173	236212173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaccttccccaggccatcGgtcgtgtccaagtccgccag	9	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236212173G>A	ENST00000264187.6	-	2	424	c.342C>T	c.(340-342)acC>acT	p.T114T	NID1_ENST00000366595.3_Silent_p.T114T	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	114	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCAGGCCATCGGTCGTGTCCA	0.572													False	0	False	1:236212173	0	A	236212173	G	A	236212173	2	1	88	1	0	0	0	0	0	0	0	1	10482	1103	39	1		1	NID1	1	236212173	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86	236212173	13038448	1889	9601											
GPR137B	7107	broad.mit.edu	37	chr1	236343188	236343188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttttccagggctcctccGtgtgtcaagtgactgccatc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236343188G>A	ENST00000366592.3	+	4	788	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	GPR137B_ENST00000366591.4_Missense_Mutation_p.V142M	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	233						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GGGCTCCTCCGTGTGTCAAGT	0.552													False	0	True	1:236343188	0	A	236343188	G	A	236343188	3	1	88	1	0	0	0	0	1	0	0	0	6692	1145	40	1	711	1	GPR137B	1	236343188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131015	236343188	12907433	1890	9602											
GPR137B	7107	broad.mit.edu	37	chr1	236347193	236347193	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcttccgagttagaaatcCtacaaaggaccttgtaagta	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236347193C>A	ENST00000366592.3	+	5	1044	c.953C>A	c.(952-954)cCt>cAt	p.P318H	GPR137B_ENST00000477559.1_3'UTR	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	318						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GTTAGAAATCCTACAAAGGAC	0.363													False	0	False	1:236347193	0	A	236347193	C	A	236347193	3	1	88	1	0	0	0	0	1	0	0	0	6692	681	24	3	971	3	GPR137B	1	236347193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4005	236347193	12903428	1891	9603											
ERO1LB	56605	broad.mit.edu	37	chr1	236389686	236389686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagccacctttgacaaagctCgaagctcaatcaagtataaa	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236389686C>T	ENST00000354619.5	-	12	1136	c.935G>A	c.(934-936)cGa>cAa	p.R312Q		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	312					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TGACAAAGCTCGAAGCTCAAT	0.393													False	0	False	1:236389686	0	T	236389686	C	T	236389686	3	4	88	1	0	0	0	0	1	0	0	0	5272	884	31	1	488	1	ERO1LB	1	236389686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42493	236389686	12860935	1892	9604											
ERO1LB	56605	broad.mit.edu	37	chr1	236399130	236399130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaaaggacgataaacagatCgaggcctgaaaaagaaagca	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236399130C>T	ENST00000354619.5	-	8	833	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	211					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			ATAAACAGATCGAGGCCTGAA	0.343													False	0	False	1:236399130	0	T	236399130	C	T	236399130	3	4	88	1	0	0	0	0	1	0	0	0	5272	884	31	1	807	1	ERO1LB	1	236399130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9444	236399130	12851491	1893	9605											
ERO1LB	56605	broad.mit.edu	37	chr1	236415367	236415367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccttattagaatgcccagCttttattccaaccggaattt	5	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236415367C>T	ENST00000354619.5	-	4	532	c.331G>A	c.(331-333)Gct>Act	p.A111T	ERO1LB_ENST00000327333.8_Missense_Mutation_p.A111T	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	111					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GAATGCCCAGCTTTTATTCCA	0.323													False	0	True	1:236415367	0	T	236415367	C	T	236415367	3	4	88	1	0	0	0	0	1	0	0	0	5272	797	28	2	1124	2	ERO1LB	1	236415367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16237	236415367	12835254	1894	9606											
LGALS8	3964	broad.mit.edu	37	chr1	236706282	236706282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacaccaagagcaaagattCgactgtcaatcacactttga	6	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236706282C>T	ENST00000526589.1	+	11	1137	c.617C>T	c.(616-618)tCg>tTg	p.S206L	RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000527974.1_Missense_Mutation_p.S206L|LGALS8_ENST00000526634.1_Intron|LGALS8_ENST00000450372.2_Missense_Mutation_p.S206L|LGALS8_ENST00000525042.1_Missense_Mutation_p.S147L|LGALS8_ENST00000416919.2_Missense_Mutation_p.S147L|LGALS8_ENST00000366584.4_Intron|LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000352231.2_Missense_Mutation_p.S206L			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	183	Galectin 2.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCAAAGATTCGACTGTCAAT	0.378													False	0	False	1:236706282	0	T	236706282	C	T	236706282	3	4	88	1	0	0	0	0	1	0	0	0	8799	893	31	1	643	1	LGALS8	1	236706282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	290915	236706282	12544339	1895	9607											
HEATR1	55127	broad.mit.edu	37	chr1	236715314	236715314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaccttccatcaactctgCtaagaaaggaatggattctg	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236715314C>T	ENST00000366582.3	-	44	6445	c.6331G>A	c.(6331-6333)Gca>Aca	p.A2111T	LGALS8_ENST00000526589.1_3'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.A2030T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2111					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCAACTCTGCTAAGAAAGGA	0.358													False	0	False	1:236715314	0	T	236715314	C	T	236715314	3	4	88	1	0	0	0	0	1	0	0	0	7074	797	28	2	111	2	HEATR1	1	236715314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9032	236715314	12535307	1896	9608											
HEATR1	55127	broad.mit.edu	37	chr1	236740213	236740213	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccctacgaacttcttttAcggggcttcccaggttaatg	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236740213A>G	ENST00000366582.3	-	21	2906	c.2792T>C	c.(2791-2793)gTa>gCa	p.V931A	HEATR1_ENST00000366581.2_Missense_Mutation_p.V931A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	931					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTTCTTTTACGGGGCTTCC	0.373													False	0	True	1:236740213	0	G	236740213	A	G	236740213	3	3	88	1	0	0	0	0	1	0	0	0	7074	391	14	4	3742	4	HEATR1	1	236740213	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24899	236740213	12510408	1897	9609											
HEATR1	55127	broad.mit.edu	37	chr1	236744595	236744595	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcattgcacagcccacataAagagcttgagtctgcagcac	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236744595A>C	ENST00000366582.3	-	20	2796	c.2682T>G	c.(2680-2682)ctT>ctG	p.L894L	HEATR1_ENST00000366581.2_Silent_p.L894L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	894					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCCCACATAAAGAGCTTGAG	0.393													False	0	True	1:236744595	0	C	236744595	A	C	236744595	2	2	88	1	0	0	0	0	0	0	0	1	7074	1	1	4		4	HEATR1	1	236744595	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4382	236744595	12506026	1898	9610											
HEATR1	55127	broad.mit.edu	37	chr1	236748389	236748389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaactgaagactcttatcGcaaatggaaagtgggtttct	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236748389G>A	ENST00000366582.3	-	17	2291	c.2177C>T	c.(2176-2178)gCg>gTg	p.A726V	HEATR1_ENST00000366581.2_Missense_Mutation_p.A726V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	726					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GACTCTTATCGCAAATGGAAA	0.398													False	0	False	1:236748389	0	A	236748389	G	A	236748389	3	1	88	1	0	0	0	0	1	0	0	0	7074	1087	38	1	4373	1	HEATR1	1	236748389	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3794	236748389	12502232	1899	9611											
HEATR1	55127	broad.mit.edu	37	chr1	236749565	236749565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcccagcctcttaatagagGgtgcagggagcagattcctg	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236749565G>T	ENST00000366582.3	-	15	2017	c.1903C>A	c.(1903-1905)Cct>Act	p.P635T	HEATR1_ENST00000366581.2_Missense_Mutation_p.P635T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	635					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTAATAGAGGGTGCAGGGAG	0.308													False	0	True	1:236749565	0	T	236749565	G	T	236749565	3	4	88	1	0	0	0	0	1	0	0	0	7074	1232	43	3	4655	3	HEATR1	1	236749565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1176	236749565	12501056	1900	9612											
HEATR1	55127	broad.mit.edu	37	chr1	236755883	236755883	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taagcaaagacactttattaGaatccatttcttcctgtgaa	5	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236755883G>T	ENST00000366582.3	-	10	1358	c.1244C>A	c.(1243-1245)tCt>tAt	p.S415Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.S415Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	415					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACTTTATTAGAATCCATTTC	0.289													False	0	False	1:236755883	0	T	236755883	G	T	236755883	3	4	88	1	0	0	0	0	1	0	0	0	7074	942	33	3	5334	3	HEATR1	1	236755883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6318	236755883	12494738	1901	9613											
ACTN2	88	broad.mit.edu	37	chr1	236850067	236850067	+	Missense_Mutation	SNP	C	C	A													agtgggaccgcgacctgctcCtggacccagcctgggagaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236850067C>A	ENST00000366578.4	+	1	260	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.L32M	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	32	Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGACCTGCTCCTGGACCCAGC	0.692													False	0	False	1:236850067	0	A	236850067	C	A	236850067	3	1	88	1	0	0	0	0	1	0	0	0	205	680	24	3	96	3	ACTN2	1	236850067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94184	236850067	12400554	1902	9614	151	2									
ACTN2	88	broad.mit.edu	37	chr1	236850076	236850076	+	Missense_Mutation	SNP	G	G	A													gcgacctgctcctggacccaGcctgggagaagcagcagagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236850076G>A	ENST00000366578.4	+	1	269	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.A35T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	35	Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTGGACCCAGCCTGGGAGAA	0.701													False	0	False	1:236850076	0	A	236850076	G	A	236850076	3	1	88	1	0	0	0	0	1	0	0	0	205	971	34	2	105	2	ACTN2	1	236850076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9	236850076	12400545	1903	9615	151	2									
ACTN2	88	broad.mit.edu	37	chr1	236902766	236902766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagatcaacttcaacacGctgcagaccaagctgcggat	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236902766G>A	ENST00000366578.4	+	10	1207	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Silent_p.T347T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	347					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACTTCAACACGCTGCAGACCA	0.597													False	0	False	1:236902766	0	A	236902766	G	A	236902766	2	1	88	1	0	0	0	0	0	0	0	1	205	1074	38	1		1	ACTN2	1	236902766	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52690	236902766	12347855	1904	9616											
ACTN2	88	broad.mit.edu	37	chr1	236902782	236902782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgctgcagaccaagctgCggatcagcaaccgtcctgcc	10	16	1	1	rs1150181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236902782C>T	ENST00000366578.4	+	10	1223	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R353W	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	353					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GACCAAGCTGCGGATCAGCAA	0.612													False	0	False	1:236902782	0	T	236902782	C	T	236902782	3	4	88	1	0	0	0	0	1	0	0	0	205	759	27	1	1095	1	ACTN2	1	236902782	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	236902782	12347839	1905	9617											
ACTN2	88	broad.mit.edu	37	chr1	236914912	236914912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcaagcaacccgtacaGcactgtcaccatggatgagc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236914912G>A	ENST00000366578.4	+	15	1965	c.1799G>A	c.(1798-1800)aGc>aAc	p.S600N	ACTN2_ENST00000546208.1_Missense_Mutation_p.S94N|ACTN2_ENST00000542672.1_Missense_Mutation_p.S600N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	600					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AACCCGTACAGCACTGTCACC	0.582													False	0	False	1:236914912	0	A	236914912	G	A	236914912	3	1	88	1	0	0	0	0	1	0	0	0	205	971	34	2	1857	2	ACTN2	1	236914912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12130	236914912	12335709	1906	9618											
MTR	4548	broad.mit.edu	37	chr1	237013811	237013811	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attaattttatccatgcaacAaaagtcattaaagtaagtgt	5	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237013811A>G	ENST00000366577.5	+	16	2077	c.1683A>G	c.(1681-1683)acA>acG	p.T561T	MTR_ENST00000535889.1_Silent_p.T561T	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	561	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCCATGCAACAAAAGTCATTA	0.348													False	0	True	1:237013811	0	G	237013811	A	G	237013811	2	3	88	1	0	0	0	0	0	0	0	1	10025	117	5	4		4	MTR	1	237013811	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	98899	237013811	12236810	1907	9619											
MTR	4548	broad.mit.edu	37	chr1	237054561	237054561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatccaagacgacattcacCtgtacgcagaggctgctgtg	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237054561C>T	ENST00000366577.5	+	29	3530	c.3136C>T	c.(3136-3138)Ctg>Ttg	p.L1046L	MTR_ENST00000535889.1_Silent_p.L995L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1046	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGACATTCACCTGTACGCAGA	0.552													False	0	False	1:237054561	0	T	237054561	C	T	237054561	2	4	88	1	0	0	0	0	0	0	0	1	10025	680	24	2		2	MTR	1	237054561	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40750	237054561	12196060	1908	9620											
MTR	4548	broad.mit.edu	37	chr1	237057675	237057675	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctgagaaggactctgccAgcacggagccatactactgc	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237057675A>G	ENST00000366577.5	+	30	3617	c.3223A>G	c.(3223-3225)Agc>Ggc	p.S1075G	MTR_ENST00000535889.1_Missense_Mutation_p.S1024G|MTR_ENST00000470570.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1075	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GGACTCTGCCAGCACGGAGCC	0.572													False	0	False	1:237057675	0	G	237057675	A	G	237057675	3	3	88	1	0	0	0	0	1	0	0	0	10025	188	7	4	3341	4	MTR	1	237057675	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3114	237057675	12192946	1909	9621											
RYR2	6262	broad.mit.edu	37	chr1	237729908	237729908	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggcaccggggaaaggttcCgaatcttccgtgccgagaag	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237729908C>A	ENST00000366574.2	+	28	3573	c.3256C>A	c.(3256-3258)Cga>Aga	p.R1086R	RYR2_ENST00000360064.6_Silent_p.R1084R|RYR2_ENST00000542537.1_Silent_p.R1070R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1086	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAAGGTTCCGAATCTTCCG	0.542													False	0	False	1:237729908	0	A	237729908	C	A	237729908	2	1	88	1	0	0	0	0	0	0	0	1	13848	644	23	3		3	RYR2	1	237729908	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	672233	237729908	11520713	1910	9622											
RYR2	6262	broad.mit.edu	37	chr1	237754106	237754106	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggagggctccctggggCtggcctttttgggcccaaga	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237754106C>A	ENST00000366574.2	+	31	4291	c.3974C>A	c.(3973-3975)gCt>gAt	p.A1325D	RYR2_ENST00000360064.6_Missense_Mutation_p.A1323D|RYR2_ENST00000542537.1_Missense_Mutation_p.A1309D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1325	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A1323D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCCCTGGGGCTGGCCTTTTT	0.522													False	0	True	1:237754106	0	A	237754106	C	A	237754106	3	1	88	1	0	0	0	0	1	0	0	0	13848	797	28	3	4096	3	RYR2	1	237754106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24198	237754106	11496515	1911	9623											
RYR2	6262	broad.mit.edu	37	chr1	237777341	237777341	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctcctcccttctacagatCtgttgacatcttagagttga	6	12	4	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237777341C>T	ENST00000366574.2	+	37	5230	c.4913C>T	c.(4912-4914)tCt>tTt	p.S1638F	RYR2_ENST00000360064.6_Missense_Mutation_p.S1636F|RYR2_ENST00000542537.1_Missense_Mutation_p.S1622F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1638	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTACAGATCTGTTGACATC	0.418													False	0	False	1:237777341	0	T	237777341	C	T	237777341	3	4	88	1	0	0	0	0	1	0	0	0	13848	913	32	2	5059	2	RYR2	1	237777341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23235	237777341	11473280	1912	9624											
RYR2	6262	broad.mit.edu	37	chr1	237780719	237780719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacaacgaagtcatgcaagCcttaaacatgtcagctgcac	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237780719C>T	ENST00000366574.2	+	38	6166	c.5849C>T	c.(5848-5850)gCc>gTc	p.A1950V	RYR2_ENST00000360064.6_Missense_Mutation_p.A1948V|RYR2_ENST00000542537.1_Missense_Mutation_p.A1934V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1950	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCATGCAAGCCTTAAACATG	0.428													False	0	False	1:237780719	0	T	237780719	C	T	237780719	3	4	88	1	0	0	0	0	1	0	0	0	13848	739	26	2	5999	2	RYR2	1	237780719	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3378	237780719	11469902	1913	9625											
RYR2	6262	broad.mit.edu	37	chr1	237796907	237796907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcccaagatggtggccaaCtgttgccgttttctctgtta	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237796907C>A	ENST00000366574.2	+	43	6902	c.6585C>A	c.(6583-6585)aaC>aaA	p.N2195K	RYR2_ENST00000360064.6_Missense_Mutation_p.N2193K|RYR2_ENST00000542537.1_Missense_Mutation_p.N2179K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2195	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGTGGCCAACTGTTGCCGTT	0.393													False	0	False	1:237796907	0	A	237796907	C	A	237796907	3	1	88	1	0	0	0	0	1	0	0	0	13848	564	20	3	6755	3	RYR2	1	237796907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16188	237796907	11453714	1914	9626											
RYR2	6262	broad.mit.edu	37	chr1	237801716	237801716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgctggtgtctaagggCtatccagacattgggtggaa	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237801716C>T	ENST00000366574.2	+	45	7169	c.6852C>T	c.(6850-6852)ggC>ggT	p.G2284G	RYR2_ENST00000360064.6_Silent_p.G2282G|RYR2_ENST00000542537.1_Silent_p.G2268G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2284	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTCTAAGGGCTATCCAGACA	0.433													False	0	True	1:237801716	0	T	237801716	C	T	237801716	2	4	88	1	0	0	0	0	0	0	0	1	13848	784	28	2		2	RYR2	1	237801716	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4809	237801716	11448905	1915	9627											
RYR2	6262	broad.mit.edu	37	chr1	237886522	237886522	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagagaagacggtagaaaGagtattggatatagcaaatg	12	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237886522G>T	ENST00000366574.2	+	74	10966	c.10649G>T	c.(10648-10650)aGa>aTa	p.R3550I	RYR2_ENST00000360064.6_Missense_Mutation_p.R3548I|RYR2_ENST00000542537.1_Missense_Mutation_p.R3534I|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3550					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGGTAGAAAGAGTATTGGAT	0.383													False	0	True	1:237886522	0	T	237886522	G	T	237886522	3	4	88	1	0	0	0	0	1	0	0	0	13848	942	33	3	10943	3	RYR2	1	237886522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84806	237886522	11364099	1916	9628											
RYR2	6262	broad.mit.edu	37	chr1	237993907	237993907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgaaacccacactttacaGgagcacaacttggctaatta	6	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237993907G>T	ENST00000366574.2	+	103	15050	c.14733G>T	c.(14731-14733)caG>caT	p.Q4911H	RYR2_ENST00000360064.6_Missense_Mutation_p.Q4917H|RYR2_ENST00000542537.1_Missense_Mutation_p.Q4895H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4911					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACTTTACAGGAGCACAACT	0.458													False	0	False	1:237993907	0	T	237993907	G	T	237993907	3	4	88	1	0	0	0	0	1	0	0	0	13848	991	35	3	15143	3	RYR2	1	237993907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107385	237993907	11256714	1917	9629											
ZP4	57829	broad.mit.edu	37	chr1	238053923	238053923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacacagcaaaacgcaccGcagcagccacataatgctac	6	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238053923G>A	ENST00000366570.4	-	1	171	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	5					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R5W(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAAACGCACCGCAGCAGCCAC	0.557													False	0	False	1:238053923	0	A	238053923	G	A	238053923	3	1	88	1	0	0	0	0	1	0	0	0	18300	1086	38	1	1657	1	ZP4	1	238053923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60016	238053923	11196698	1918	9630											
CHRM3	1131	broad.mit.edu	37	chr1	240070910	240070910	+	Silent	SNP	C	C	T													ggcaatttctcctctccagaCggtaccaccgatgaccctct					rs149077005	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240070910C>T	ENST00000255380.4	+	5	938	c.159C>T	c.(157-159)gaC>gaT	p.D53D		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	53					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCTCTCCAGACGGTACCACCG	0.572													False	0	False	1:240070910	0	T	240070910	C	T	240070910	2	4	88	1	0	0	0	0	0	0	0	1	3401	535	19	1		1	CHRM3	1	240070910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2016987	240070910	9179711	1919	9631	152	2									
CHRM3	1131	broad.mit.edu	37	chr1	240070919	240070919	+	Silent	SNP	C	C	T													tcctctccagacggtaccacCgatgaccctctgggaggtca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240070919C>T	ENST00000255380.4	+	5	947	c.168C>T	c.(166-168)acC>acT	p.T56T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	56					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.T56T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACGGTACCACCGATGACCCTC	0.572													False	0	False	1:240070919	0	T	240070919	C	T	240070919	2	4	88	1	0	0	0	0	0	0	0	1	3401	639	23	1		1	CHRM3	1	240070919	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	240070919	9179702	1920	9632	152	2									
CHRM3	1131	broad.mit.edu	37	chr1	240072469	240072469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggcgcaagcagcagtAccagcagagacagtcggtca	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240072469A>G	ENST00000255380.4	+	5	2497	c.1718A>G	c.(1717-1719)tAc>tGc	p.Y573C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	573					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AAGCAGCAGTACCAGCAGAGA	0.493													False	0	False	1:240072469	0	G	240072469	A	G	240072469	3	3	88	1	0	0	0	0	1	0	0	0	3401	391	14	4	1720	4	CHRM3	1	240072469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1550	240072469	9178152	1921	9633											
FMN2	56776	broad.mit.edu	37	chr1	240255963	240255963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggacacggacatctataGcttccattcggctacggagc	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240255963G>A	ENST00000319653.9	+	1	784	c.554G>A	c.(553-555)aGc>aAc	p.S185N		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	185					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GACATCTATAGCTTCCATTCG	0.627													False	0	False	1:240255963	0	A	240255963	G	A	240255963	3	1	88	1	0	0	0	0	1	0	0	0	5990	971	34	2	556	2	FMN2	1	240255963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183494	240255963	8994658	1922	9634											
FMN2	56776	broad.mit.edu	37	chr1	240256573	240256573	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggaggaggaggcgcaaggAcctgacgcccccgcggccgc	17	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240256573A>C	ENST00000319653.9	+	1	1394	c.1164A>C	c.(1162-1164)ggA>ggC	p.G388G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	388					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGGCGCAAGGACCTGACGCCC	0.726													False	0	False	1:240256573	0	C	240256573	A	C	240256573	2	2	88	1	0	0	0	0	0	0	0	1	5990	262	10	4		4	FMN2	1	240256573	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	610	240256573	8994048	1923	9635											
FMN2	56776	broad.mit.edu	37	chr1	240256734	240256734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccctaatcagagccccaGgatcaagaggcggccggaac	12	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240256734G>A	ENST00000319653.9	+	1	1555	c.1325G>A	c.(1324-1326)aGg>aAg	p.R442K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	442					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAGCCCCAGGATCAAGAGG	0.672													False	0	False	1:240256734	0	A	240256734	G	A	240256734	3	1	88	1	0	0	0	0	1	0	0	0	5990	1000	35	2	1327	2	FMN2	1	240256734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	240256734	8993887	1924	9636											
FMN2	56776	broad.mit.edu	37	chr1	240370368	240370368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcccccacggaagagggCggggtgctgacactgcctcc	13	15	0	2	rs140392779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240370368C>T	ENST00000319653.9	+	5	2486	c.2256C>T	c.(2254-2256)ggC>ggT	p.G752G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	752					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G895G(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGAAGAGGGCGGGGTGCTGA	0.547													False	0	True	1:240370368	0	T	240370368	C	T	240370368	2	4	88	1	0	0	0	0	0	0	0	1	5990	755	27	1		1	FMN2	1	240370368	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113634	240370368	8880253	1925	9637											
GREM2	64388	broad.mit.edu	37	chr1	240656545	240656545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctcaccgtctgccgcagCggctgcgtcttgcaccagtc	11	17	3	0	rs148064794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240656545C>T	ENST00000318160.4	-	2	497	c.231G>A	c.(229-231)ccG>ccA	p.P77P		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	77	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCTGCCGCAGCGGCTGCGTCT	0.647													False	0	False	1:240656545	0	T	240656545	C	T	240656545	2	4	88	1	0	0	0	0	0	0	0	1	6809	755	27	1		1	GREM2	1	240656545	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286177	240656545	8594076	1926	9638											
RGS7	6000	broad.mit.edu	37	chr1	240969500	240969500	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgtggttttgtcataActcttggaatccaagttaat	8	6	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240969500A>C	ENST00000366565.1	-	15	1590	c.1209T>G	c.(1207-1209)agT>agG	p.S403R	RGS7_ENST00000348120.2_Missense_Mutation_p.S350R|RGS7_ENST00000401882.1_Missense_Mutation_p.S350R|RGS7_ENST00000407727.1_Missense_Mutation_p.S403R|RGS7_ENST00000366564.1_Missense_Mutation_p.S403R|RGS7_ENST00000331110.7_Missense_Mutation_p.S377R|RGS7_ENST00000446183.2_Missense_Mutation_p.S319R|RGS7_ENST00000366563.1_Missense_Mutation_p.S403R|RGS7_ENST00000366562.4_Missense_Mutation_p.S403R	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	403	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTGTCATAACTCTTGGAAT	0.478													False	0	False	1:240969500	0	C	240969500	A	C	240969500	3	2	88	1	0	0	0	0	1	0	0	0	13389	40	2	4	270	4	RGS7	1	240969500	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	312955	240969500	8281121	1927	9639											
RGS7	6000	broad.mit.edu	37	chr1	241031913	241031913	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgcacgtcccagaacgCtctctcttggctgtcaagga	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241031913C>A	ENST00000366565.1	-	9	964	c.583G>T	c.(583-585)Gcg>Tcg	p.A195S	RGS7_ENST00000348120.2_Missense_Mutation_p.A142S|RGS7_ENST00000401882.1_Missense_Mutation_p.A142S|RGS7_ENST00000407727.1_Missense_Mutation_p.A195S|RGS7_ENST00000366564.1_Missense_Mutation_p.A195S|RGS7_ENST00000331110.7_Missense_Mutation_p.A169S|RGS7_ENST00000446183.2_Missense_Mutation_p.A111S|RGS7_ENST00000366563.1_Missense_Mutation_p.A195S|RGS7_ENST00000366562.4_Missense_Mutation_p.A195S	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	195					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCCCAGAACGCTCTCTCTTGG	0.478													False	0	True	1:241031913	0	A	241031913	C	A	241031913	3	1	88	1	0	0	0	0	1	0	0	0	13389	797	28	3	920	3	RGS7	1	241031913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62413	241031913	8218708	1928	9640											
FH	2271	broad.mit.edu	37	chr1	241676958	241676958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggatcaagaccataatccTggtttacttcagcggccgct	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241676958T>C	ENST00000366560.3	-	3	361	c.323A>G	c.(322-324)cAg>cGg	p.Q108R		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	108					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACCATAATCCTGGTTTACTTC	0.373			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer				False	0	False	1:241676958	0	C	241676958	T	C	241676958	3	2	88	1	0	0	0	0	1	0	0	0	5915	1580	55	4	1241	4	FH	1	241676958	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	645045	241676958	7573663	1929	9641											
KMO	8564	broad.mit.edu	37	chr1	241729796	241729796	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcttctcacagaacaaAtcattcacatgtactttgtt	3	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241729796A>C	ENST00000366559.4	+	9	1004	c.693A>C	c.(691-693)aaA>aaC	p.K231N	KMO_ENST00000366557.4_Missense_Mutation_p.K231N|KMO_ENST00000366558.3_Missense_Mutation_p.K231N	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	231					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CACAGAACAAATCATTCACAT	0.438													False	0	True	1:241729796	0	C	241729796	A	C	241729796	3	2	88	1	0	0	0	0	1	0	0	0	8474	98	4	4	727	4	KMO	1	241729796	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52838	241729796	7520825	1930	9642											
OPN3	23596	broad.mit.edu	37	chr1	241757917	241757917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatctgcatttcacttccaGctgctggtaggtctttagca	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241757917G>T	ENST00000366554.2	-	4	1128	c.1022C>A	c.(1021-1023)gCt>gAt	p.A341D	KMO_ENST00000366559.4_3'UTR|OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.A262D|KMO_ENST00000366557.4_3'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	341					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTCACTTCCAGCTGCTGGTAG	0.463													False	0	False	1:241757917	0	T	241757917	G	T	241757917	3	4	88	1	0	0	0	0	1	0	0	0	10949	971	34	3	190	3	OPN3	1	241757917	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28121	241757917	7492704	1931	9643											
CHML	1122	broad.mit.edu	37	chr1	241797861	241797861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagcattgtactttatgaCgaagacaatagattccacca	6	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241797861C>T	ENST00000366553.1	-	1	1371	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	403					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TACTTTATGACGAAGACAATA	0.373													False	0	False	1:241797861	0	T	241797861	C	T	241797861	3	4	88	1	0	0	0	0	1	0	0	0	3374	536	19	1	766	1	CHML	1	241797861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39944	241797861	7452760	1932	9644											
CHML	1122	broad.mit.edu	37	chr1	241798002	241798002	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtttttagttgcgttaagaCcatctattgtagtgcaagat	9	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241798002C>A	ENST00000366553.1	-	1	1230	c.1067G>T	c.(1066-1068)gGt>gTt	p.G356V	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	356					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGCGTTAAGACCATCTATTGT	0.398													False	0	False	1:241798002	0	A	241798002	C	A	241798002	3	1	88	1	0	0	0	0	1	0	0	0	3374	507	18	3	907	3	CHML	1	241798002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141	241798002	7452619	1933	9645											
CHML	1122	broad.mit.edu	37	chr1	241798700	241798700	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtattagacacccccaaagaAggatttttctgcagagcacc	8	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241798700A>C	ENST00000366553.1	-	1	532	c.369T>G	c.(367-369)ccT>ccG	p.P123P	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	123					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCCCCAAAGAAGGATTTTTCT	0.423													False	0	False	1:241798700	0	C	241798700	A	C	241798700	2	2	88	1	0	0	0	0	0	0	0	1	3374	59	3	4		4	CHML	1	241798700	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	698	241798700	7451921	1934	9646											
WDR64	128025	broad.mit.edu	37	chr1	241959584	241959584	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccccactagtctaagatTtcttccactgattggcgtag	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241959584T>G	ENST00000366552.2	+	26	3281	c.3074T>G	c.(3073-3075)tTt>tGt	p.F1025C	WDR64_ENST00000437684.2_Missense_Mutation_p.F858C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1025										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGTCTAAGATTTCTTCCACTG	0.408													False	0	True	1:241959584	0	G	241959584	T	G	241959584	3	3	88	1	0	0	0	0	1	0	0	0	17399	1841	64	4	3176	4	WDR64	1	241959584	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	160884	241959584	7291037	1935	9647											
WDR64	128025	broad.mit.edu	37	chr1	241959665	241959665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggaggtcatgttcaacGtgaaaaagtaagttagtact	12	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241959665G>A	ENST00000366552.2	+	26	3362	c.3155G>A	c.(3154-3156)cGt>cAt	p.R1052H	WDR64_ENST00000437684.2_Missense_Mutation_p.R885H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1052										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CATGTTCAACGTGAAAAAGTA	0.378													False	0	False	1:241959665	0	A	241959665	G	A	241959665	3	1	88	1	0	0	0	0	1	0	0	0	17399	1145	40	1	3257	1	WDR64	1	241959665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	241959665	7290956	1936	9648											
EXO1	9156	broad.mit.edu	37	chr1	242024727	242024727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatgttgatgattccataGctcttcaaatagcacttgga	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242024727G>A	ENST00000366548.3	+	10	1557	c.964G>A	c.(964-966)Gct>Act	p.A322T	EXO1_ENST00000348581.5_Missense_Mutation_p.A322T|EXO1_ENST00000518483.1_Missense_Mutation_p.A322T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	322	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGATTCCATAGCTCTTCAAAT	0.308								Editing and processing nucleases					False	0	False	1:242024727	0	A	242024727	G	A	242024727	3	1	88	1	0	0	0	0	1	0	0	0	5332	971	34	2	990	2	EXO1	1	242024727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65062	242024727	7225894	1937	9649											
EXO1	9156	broad.mit.edu	37	chr1	242030154	242030154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccattcaagaagtcataGttgggatgacaaaacatgtc	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242030154G>A	ENST00000366548.3	+	11	1657	c.1064G>A	c.(1063-1065)aGt>aAt	p.S355N	EXO1_ENST00000348581.5_Missense_Mutation_p.S355N|EXO1_ENST00000518483.1_Missense_Mutation_p.S355N	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	355	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGAAGTCATAGTTGGGATGAC	0.368								Editing and processing nucleases					False	0	False	1:242030154	0	A	242030154	G	A	242030154	3	1	88	1	0	0	0	0	1	0	0	0	5332	1029	36	2	1094	2	EXO1	1	242030154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5427	242030154	7220467	1938	9650											
EXO1	9156	broad.mit.edu	37	chr1	242052841	242052841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccaactaactccagaagCggaagaggatatatttaaca	7	9	0	2	rs145975455	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242052841C>T	ENST00000366548.3	+	16	3073	c.2480C>T	c.(2479-2481)gCg>gTg	p.A827V	EXO1_ENST00000348581.5_Missense_Mutation_p.A827V|EXO1_ENST00000518483.1_3'UTR	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	827	Interaction with MLH1.|Interaction with MSH2.		A -> V.		meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACTCCAGAAGCGGAAGAGGAT	0.403								Editing and processing nucleases					False	0	False	1:242052841	0	T	242052841	C	T	242052841	3	4	88	1	0	0	0	0	1	0	0	0	5332	768	27	1	2530	1	EXO1	1	242052841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22687	242052841	7197780	1939	9651											
MAP1LC3C	440738	broad.mit.edu	37	chr1	242159659	242159659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcaccagcaagtaaaaggCttccgtggctctcaggacca	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242159659C>T	ENST00000357246.3	-	4	314	c.250G>A	c.(250-252)Gcc>Acc	p.A84T		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	84					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAGTAAAAGGCTTCCGTGGCT	0.567													False	0	False	1:242159659	0	T	242159659	C	T	242159659	3	4	88	1	0	0	0	0	1	0	0	0	9300	797	28	2	197	2	MAP1LC3C	1	242159659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106818	242159659	7090962	1940	9652											
PLD5	200150	broad.mit.edu	37	chr1	242253373	242253373	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgataacaaggcccgtgccaGcattctgagtgaaatcattc	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242253373G>T	ENST00000536534.2	-	10	1635	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	PLD5_ENST00000427495.1_Missense_Mutation_p.A403D|PLD5_ENST00000442594.2_Missense_Mutation_p.A373D			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5							integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GCCCGTGCCAGCATTCTGAGT	0.408													False	0	False	1:242253373	0	T	242253373	G	T	242253373	3	4	88	1	0	0	0	0	1	0	0	0	12118	971	34	3	220	3	PLD5	1	242253373	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93714	242253373	6997248	1941	9653											
PLD5	200150	broad.mit.edu	37	chr1	242428680	242428680	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacctttgaatcagctgttAcatcactcactagcttgatt	5	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242428680A>G	ENST00000536534.2	-	4	807	c.566T>C	c.(565-567)gTa>gCa	p.V189A	PLD5_ENST00000474177.1_5'UTR|PLD5_ENST00000427495.1_Missense_Mutation_p.V127A|PLD5_ENST00000442594.2_Missense_Mutation_p.V97A			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5							integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATCAGCTGTTACATCACTCAC	0.368													False	0	False	1:242428680	0	G	242428680	A	G	242428680	3	3	88	1	0	0	0	0	1	0	0	0	12118	391	14	4	1072	4	PLD5	1	242428680	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	175307	242428680	6821941	1942	9654											
CEP170	9859	broad.mit.edu	37	chr1	243328278	243328278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaacccacatctgtggaaCgactttttgttttcttttcc	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243328278C>T	ENST00000366542.1	-	13	3035	c.2984G>A	c.(2983-2985)cGt>cAt	p.R995H	RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.R897H	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	995	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCTGTGGAACGACTTTTTGT	0.408													False	0	False	1:243328278	0	T	243328278	C	T	243328278	3	4	88	1	0	0	0	0	1	0	0	0	3273	536	19	1	1832	1	CEP170	1	243328278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	899598	243328278	5922343	1943	9655											
SDCCAG8	10806	broad.mit.edu	37	chr1	243434319	243434319	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgccaacaagcagataAggaaagtgaagtatctccgt	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243434319A>C	ENST00000366541.3	+	3	378	c.260A>C	c.(259-261)aAg>aCg	p.K87T	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.K87T|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.K87T|SDCCAG8_ENST00000343783.6_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	87					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CAAGCAGATAAGGAAAGTGAA	0.383													False	0	False	1:243434319	0	C	243434319	A	C	243434319	3	2	88	1	0	0	0	0	1	0	0	0	14040	72	3	4	270	4	SDCCAG8	1	243434319	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	106041	243434319	5816302	1944	9656											
SDCCAG8	10806	broad.mit.edu	37	chr1	243468021	243468021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttttctataggagaagCtaaaacttacttatgaggaa	7	5	2	2	rs139220760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243468021C>T	ENST00000366541.3	+	7	800	c.682C>T	c.(682-684)Cta>Tta	p.L228L	SDCCAG8_ENST00000355875.4_Silent_p.L185L|SDCCAG8_ENST00000391846.1_Silent_p.L228L|SDCCAG8_ENST00000343783.6_Silent_p.L83L|SDCCAG8_ENST00000496361.1_3'UTR	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	228	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ATAGGAGAAGCTAAAACTTAC	0.259													False	0	False	1:243468021	0	T	243468021	C	T	243468021	2	4	88	1	0	0	0	0	0	0	0	1	14040	796	28	2		2	SDCCAG8	1	243468021	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33702	243468021	5782600	1945	9657											
SDCCAG8	10806	broad.mit.edu	37	chr1	243480090	243480090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgtctgcactagtttcCgtaaggagcagcttggcaga	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243480090C>T	ENST00000366541.3	+	9	1081	c.963C>T	c.(961-963)tcC>tcT	p.S321S	SDCCAG8_ENST00000355875.4_Silent_p.S278S|SDCCAG8_ENST00000391846.1_Silent_p.S321S|SDCCAG8_ENST00000343783.6_Silent_p.S176S	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	321	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CACTAGTTTCCGTAAGGAGCA	0.398													False	0	False	1:243480090	0	T	243480090	C	T	243480090	2	4	88	1	0	0	0	0	0	0	0	1	14040	639	23	1		1	SDCCAG8	1	243480090	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12069	243480090	5770531	1946	9658											
AKT3	10000	broad.mit.edu	37	chr1	244006483	244006483	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcgctcatgatgactcccCtctgagcccccaacttggag	8	16	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244006483C>A	ENST00000366539.1	-	0	190				AKT3_ENST00000263826.5_De_novo_Start_InFrame|AKT3_ENST00000336199.5_De_novo_Start_InFrame|AKT3_ENST00000366540.1_De_novo_Start_InFrame			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3						signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GATGACTCCCCTCTGAGCCCC	0.478													False	0	True	1:244006483	0	A	244006483	C	A	244006483	1	1	88	1	0	0	0	0	0	0	0	0	481	696	24	3		3	AKT3	1	244006483	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	526393	244006483	5244138	1947	9659											
ADSS	159	broad.mit.edu	37	chr1	244579342	244579342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactccaactttgatttccGtaaacatgtccaaaatatcc	3	12	0	1	rs147946123	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244579342G>A	ENST00000366535.3	-	11	1425	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	370					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTTGATTTCCGTAAACATGTC	0.338													False	0	False	1:244579342	0	A	244579342	G	A	244579342	3	1	88	1	0	0	0	0	1	0	0	0	347	1145	40	1	273	1	ADSS	1	244579342	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	572859	244579342	4671279	1948	9660											
C1orf101	257044	broad.mit.edu	37	chr1	244724424	244724424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaatgctatcaaatgacaGcattattcatgaagttttca	5	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244724424G>A	ENST00000366534.4	+	10	1538	c.1484G>A	c.(1483-1485)aGc>aAc	p.S495N	C1orf101_ENST00000366531.3_Missense_Mutation_p.S344N|C1orf101_ENST00000366533.4_Missense_Mutation_p.S495N|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	495						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCAAATGACAGCATTATTCAT	0.328													False	0	False	1:244724424	0	A	244724424	G	A	244724424	3	1	88	1	0	0	0	0	1	0	0	0	1991	971	34	2	1522	2	C1orf101	1	244724424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145082	244724424	4526197	1949	9661											
HNRNPU	3192	broad.mit.edu	37	chr1	245027598	245027598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttttttacattaacaggCgaggaactcatggtgagggc	12	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245027598C>T	ENST00000444376.2	-	1	246	c.12G>A	c.(10-12)tcG>tcA	p.S4S	HNRNPU_ENST00000283179.9_Silent_p.S4S	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	4	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CATTAACAGGCGAGGAACTCA	0.602													False	0	False	1:245027598	0	T	245027598	C	T	245027598	2	4	88	1	0	0	0	0	0	0	0	1	7320	755	27	1		1	HNRNPU	1	245027598	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	303174	245027598	4223023	1950	9662											
KIF26B	55083	broad.mit.edu	37	chr1	245530451	245530451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaactacacaggcttcGccaacaagcacggcagcaaa	7	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245530451G>A	ENST00000407071.2	+	3	1221	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	261					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CACAGGCTTCGCCAACAAGCA	0.662													False	0	False	1:245530451	0	A	245530451	G	A	245530451	3	1	88	1	0	0	0	0	1	0	0	0	8345	1087	38	1	791	1	KIF26B	1	245530451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	502853	245530451	3720170	1951	9663											
KIF26B	55083	broad.mit.edu	37	chr1	245530471	245530471	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaacaagcacggcagcaaAcccagcagccttggggtcag	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245530471A>C	ENST00000407071.2	+	3	1241	c.801A>C	c.(799-801)aaA>aaC	p.K267N	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	267					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACGGCAGCAAACCCAGCAGCC	0.642													False	0	True	1:245530471	0	C	245530471	A	C	245530471	3	2	88	1	0	0	0	0	1	0	0	0	8345	40	2	4	811	4	KIF26B	1	245530471	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20	245530471	3720150	1952	9664											
KIF26B	55083	broad.mit.edu	37	chr1	245849462	245849462	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcggcttcgtggaaggcaaGcccaggcccatgggctcccc	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245849462G>T	ENST00000366518.4	+	9	2138	c.2034G>T	c.(2032-2034)aaG>aaT	p.K678N	KIF26B_ENST00000407071.2_Missense_Mutation_p.K1059N			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1059	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGAAGGCAAGCCCAGGCCCA	0.662													False	0	True	1:245849462	0	T	245849462	G	T	245849462	3	4	88	1	0	0	0	0	1	0	0	0	8345	962	34	3	3223	3	KIF26B	1	245849462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318991	245849462	3401159	1953	9665											
KIF26B	55083	broad.mit.edu	37	chr1	245849753	245849753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctgtcgatgatgagcaGcaggcagctactccttcaga	10	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245849753G>A	ENST00000366518.4	+	9	2429	c.2325G>A	c.(2323-2325)caG>caA	p.Q775Q	KIF26B_ENST00000407071.2_Silent_p.Q1156Q			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1156					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATGATGAGCAGCAGGCAGCTA	0.577													False	0	True	1:245849753	0	A	245849753	G	A	245849753	2	1	88	1	0	0	0	0	0	0	0	1	8345	962	34	2		2	KIF26B	1	245849753	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291	245849753	3400868	1954	9666											
KIF26B	55083	broad.mit.edu	37	chr1	245850027	245850027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctactccagcacggcccccGtctccgaggtcagcatcaca	9	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850027G>A	ENST00000366518.4	+	9	2703	c.2599G>A	c.(2599-2601)Gtc>Atc	p.V867I	KIF26B_ENST00000407071.2_Missense_Mutation_p.V1248I			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1248					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CACGGCCCCCGTCTCCGAGGT	0.652													False	0	True	1:245850027	0	A	245850027	G	A	245850027	3	1	88	1	0	0	0	0	1	0	0	0	8345	1145	40	1	3788	1	KIF26B	1	245850027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	274	245850027	3400594	1955	9667											
KIF26B	55083	broad.mit.edu	37	chr1	245850356	245850356	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaacaaagcagcccccatCaaaggctgcaaaatatccac	5	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850356C>T	ENST00000366518.4	+	9	3032	c.2928C>T	c.(2926-2928)atC>atT	p.I976I	KIF26B_ENST00000407071.2_Silent_p.I1357I			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1357					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCCCCCATCAAAGGCTGCA	0.542													False	0	True	1:245850356	0	T	245850356	C	T	245850356	2	4	88	1	0	0	0	0	0	0	0	1	8345	816	29	2		2	KIF26B	1	245850356	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	329	245850356	3400265	1956	9668											
KIF26B	55083	broad.mit.edu	37	chr1	245850742	245850742	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggacggaaagcccagtcCgggagacaggctcagcagca	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850742C>A	ENST00000366518.4	+	9	3418	c.3314C>A	c.(3313-3315)cCg>cAg	p.P1105Q	KIF26B_ENST00000407071.2_Missense_Mutation_p.P1486Q			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1486					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGCCCAGTCCGGGAGACAGG	0.627													False	0	True	1:245850742	0	A	245850742	C	A	245850742	3	1	88	1	0	0	0	0	1	0	0	0	8345	652	23	3	4503	3	KIF26B	1	245850742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	386	245850742	3399879	1957	9669											
KIF26B	55083	broad.mit.edu	37	chr1	245851582	245851582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaagtccctgccgcaggCggtgggccagggctccagct	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245851582C>T	ENST00000366518.4	+	9	4258	c.4154C>T	c.(4153-4155)gCg>gTg	p.A1385V	KIF26B_ENST00000407071.2_Missense_Mutation_p.A1766V			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1766					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGCCGCAGGCGGTGGGCCAG	0.706													False	0	False	1:245851582	0	T	245851582	C	T	245851582	3	4	88	1	0	0	0	0	1	0	0	0	8345	768	27	1	5343	1	KIF26B	1	245851582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	840	245851582	3399039	1958	9670											
TFB2M	64216	broad.mit.edu	37	chr1	246707824	246707824	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttattctttttactcaccGtaagtggtctattacagtgg	7	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:246707824G>A	ENST00000366514.4	-	7	1203	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	340					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTTACTCACCGTAAGTGGTCT	0.333													False	0	False	1:246707824	0	A	246707824	G	A	246707824	5	1	88	1	0	0	0	0	0	0	1	0	15876	1159	40	1	180	1	TFB2M	1	246707824	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	856242	246707824	2542797	1959	9671											
SCCPDH	51097	broad.mit.edu	37	chr1	246922335	246922335	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcataggtctgtcttgcaGgtggccaatttcttattgtc	9	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:246922335G>T	ENST00000366510.3	+	7	1071		c.e7-1			NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)							midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CTGTCTTGCAGGTGGCCAATT	0.413													False	0	False	1:246922335	0	T	246922335	G	T	246922335	5	4	88	1	0	0	0	0	0	0	1	0	13965	1014	35	3	721	3	SCCPDH	1	246922335	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214511	246922335	2328286	1960	9672											
AHCTF1	25909	broad.mit.edu	37	chr1	247013133	247013133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatactgagtgcaatgaacGtttttggctttgactttcag	10	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013133G>A	ENST00000366508.1	-	33	6416	c.6280C>T	c.(6280-6282)Cgt>Tgt	p.R2094C	AHCTF1_ENST00000391829.2_Missense_Mutation_p.R2059C|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R2068C|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2059	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCAATGAACGTTTTTGGCTT	0.383													False	0	True	1:247013133	0	A	247013133	G	A	247013133	3	1	88	1	0	0	0	0	1	0	0	0	408	1145	40	1	641	1	AHCTF1	1	247013133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90798	247013133	2237488	1961	9673											
AHCTF1	25909	broad.mit.edu	37	chr1	247013154	247013154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttggctttgactttcagTcttttttgtaagttttttct	6	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013154T>C	ENST00000366508.1	-	33	6395	c.6259A>G	c.(6259-6261)Act>Gct	p.T2087A	AHCTF1_ENST00000391829.2_Missense_Mutation_p.T2052A|AHCTF1_ENST00000326225.3_Missense_Mutation_p.T2061A|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2052	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGACTTTCAGTCTTTTTTGTA	0.363													False	0	False	1:247013154	0	C	247013154	T	C	247013154	3	2	88	1	0	0	0	0	1	0	0	0	408	1667	58	4	662	4	AHCTF1	1	247013154	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21	247013154	2237467	1962	9674											
AHCTF1	25909	broad.mit.edu	37	chr1	247013648	247013648	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taacttttagatcatttataAtttcaacactttcctgattt	2	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013648A>C	ENST00000366508.1	-	33	5901	c.5765T>G	c.(5764-5766)aTt>aGt	p.I1922S	AHCTF1_ENST00000391829.2_Missense_Mutation_p.I1887S|AHCTF1_ENST00000326225.3_Missense_Mutation_p.I1896S|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1887	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCATTTATAATTTCAACACT	0.299													False	0	True	1:247013648	0	C	247013648	A	C	247013648	3	2	88	1	0	0	0	0	1	0	0	0	408	101	4	4	1156	4	AHCTF1	1	247013648	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	494	247013648	2236973	1963	9675											
AHCTF1	25909	broad.mit.edu	37	chr1	247014214	247014214	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attatgttttggctcactaaAggtattgtttcatgaatgga	9	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247014214A>C	ENST00000366508.1	-	33	5335	c.5199T>G	c.(5197-5199)ccT>ccG	p.P1733P	AHCTF1_ENST00000391829.2_Silent_p.P1698P|AHCTF1_ENST00000326225.3_Silent_p.P1707P|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1698	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGCTCACTAAAGGTATTGTTT	0.348													False	0	True	1:247014214	0	C	247014214	A	C	247014214	2	2	88	1	0	0	0	0	0	0	0	1	408	59	3	4		4	AHCTF1	1	247014214	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	566	247014214	2236407	1964	9676											
AHCTF1	25909	broad.mit.edu	37	chr1	247040288	247040288	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagtttggttcagcttcaaGgcaggcacataattggcacg	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247040288G>T	ENST00000366508.1	-	23	3142	c.3006C>A	c.(3004-3006)gcC>gcA	p.A1002A	AHCTF1_ENST00000391829.2_Silent_p.A967A|AHCTF1_ENST00000326225.3_Silent_p.A976A|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	967					cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCAGCTTCAAGGCAGGCACAT	0.388													False	0	True	1:247040288	0	T	247040288	G	T	247040288	2	4	88	1	0	0	0	0	0	0	0	1	408	987	35	3		3	AHCTF1	1	247040288	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26074	247040288	2210333	1965	9677											
AHCTF1	25909	broad.mit.edu	37	chr1	247051761	247051761	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacaacttctcaattcGctctcctaactgagaaacca	3	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247051761G>A	ENST00000366508.1	-	18	2444	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*	AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.R735*|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.R744*|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	735	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCTCAATTCGCTCTCCTAAC	0.408													False	0	False	1:247051761	0	A	247051761	G	A	247051761	4	1	88	1	0	0	0	0	0	1	0	0	408	1095	38	1	4673	1	AHCTF1	1	247051761	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11473	247051761	2198860	1966	9678											
AHCTF1	25909	broad.mit.edu	37	chr1	247081580	247081580	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aactttccacgaagcacagaTtctaatgttatttcgtcttc	5	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247081580T>A	ENST00000366508.1	-	2	334	c.198A>T	c.(196-198)gaA>gaT	p.E66D	AHCTF1_ENST00000391829.2_Missense_Mutation_p.E31D|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E40D			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	31	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GAAGCACAGATTCTAATGTTA	0.358													False	0	False	1:247081580	0	A	247081580	T	A	247081580	3	1	88	1	0	0	0	0	1	0	0	0	408	1490	52	5	6847	5	AHCTF1	1	247081580	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29819	247081580	2169041	1967	9679											
ZNF695	57116	broad.mit.edu	37	chr1	247163304	247163304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatccctatacaaactccGctgagctgggtccaggcatt	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247163304G>A	ENST00000339986.7	-	2	223	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Missense_Mutation_p.R26W	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	26	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TACAAACTCCGCTGAGCTGGG	0.433													False	0	False	1:247163304	0	A	247163304	G	A	247163304	3	1	88	1	0	0	0	0	1	0	0	0	18181	1086	38	1	1483	1	ZNF695	1	247163304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81724	247163304	2087317	1968	9680											
ZNF124	7678	broad.mit.edu	37	chr1	247319927	247319927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtttttttatgcttccaaaGggtactagcacgactaaagg	9	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247319927G>T	ENST00000340684.6	-	4	949	c.811C>A	c.(811-813)Ctt>Att	p.L271I	ZNF124_ENST00000543802.2_Missense_Mutation_p.L333I|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TGCTTCCAAAGGGTACTAGCA	0.378													False	0	True	1:247319927	0	T	247319927	G	T	247319927	3	4	88	1	0	0	0	0	1	0	0	0	17803	1000	35	3	62	3	ZNF124	1	247319927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156623	247319927	1930694	1969	9681											
ZNF124	7678	broad.mit.edu	37	chr1	247320502	247320502	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagtgtgatttctcTgatgtatctgaaatgaactg	8	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247320502T>G	ENST00000340684.6	-	4	374	c.236A>C	c.(235-237)cAg>cCg	p.Q79P	ZNF124_ENST00000543802.2_Missense_Mutation_p.Q141P|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	141	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTGATTTCTCTGATGTATCTG	0.378													False	0	False	1:247320502	0	G	247320502	T	G	247320502	3	3	88	1	0	0	0	0	1	0	0	0	17803	1580	55	4	637	4	ZNF124	1	247320502	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	575	247320502	1930119	1970	9682											
ZNF496	84838	broad.mit.edu	37	chr1	247463849	247463849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcagagcctgcttggaaCggcgcttcatgtgcaggcgc	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463849C>T	ENST00000294753.4	-	9	2200	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	ZNF496_ENST00000366498.2_Missense_Mutation_p.R615H|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	579					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTGCTTGGAACGGCGCTTCAT	0.642													False	0	False	1:247463849	0	T	247463849	C	T	247463849	3	4	88	1	0	0	0	0	1	0	0	0	18028	536	19	1	31	1	ZNF496	1	247463849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143347	247463849	1786772	1971	9683											
ZNF496	84838	broad.mit.edu	37	chr1	247463872	247463872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttcatgtgcaggcgctcGtggcggaggaggtcatagtt	16	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463872G>A	ENST00000294753.4	-	9	2177	c.1713C>T	c.(1711-1713)caC>caT	p.H571H	ZNF496_ENST00000366498.2_Silent_p.H607H|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	571					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCAGGCGCTCGTGGCGGAGGA	0.647													False	0	False	1:247463872	0	A	247463872	G	A	247463872	2	1	88	1	0	0	0	0	0	0	0	1	18028	1136	40	1		1	ZNF496	1	247463872	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	247463872	1786749	1972	9684											
ZNF496	84838	broad.mit.edu	37	chr1	247463988	247463988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagccaggtggtcgtgccGctggaaggccttcccacact	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463988G>A	ENST00000294753.4	-	9	2061	c.1597C>T	c.(1597-1599)Cgg>Tgg	p.R533W	ZNF496_ENST00000366498.2_Missense_Mutation_p.R569W|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	533					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGTCGTGCCGCTGGAAGGCC	0.622													False	0	False	1:247463988	0	A	247463988	G	A	247463988	3	1	88	1	0	0	0	0	1	0	0	0	18028	1086	38	1	170	1	ZNF496	1	247463988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116	247463988	1786633	1973	9685											
ZNF496	84838	broad.mit.edu	37	chr1	247492622	247492622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggccaggaactgctccaGcaccagcagctccagaatct	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247492622G>A	ENST00000294753.4	-	3	723	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	ZNF496_ENST00000366498.2_Silent_p.L87L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	87	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AACTGCTCCAGCACCAGCAGC	0.716													False	0	True	1:247492622	0	A	247492622	G	A	247492622	2	1	88	1	0	0	0	0	0	0	0	1	18028	962	34	2		2	ZNF496	1	247492622	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28634	247492622	1757999	1974	9686											
NLRP3	114548	broad.mit.edu	37	chr1	247582145	247582145	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccaggtacctggaggacCtggaggatgtggacttgaag	17	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247582145C>A	ENST00000366497.2	+	2	829	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.L17M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L17M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L17M|NLRP3_ENST00000391827.2_Missense_Mutation_p.L17M|NLRP3_ENST00000336119.3_Missense_Mutation_p.L17M	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	17	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTGGAGGACCTGGAGGATGT	0.552													False	0	False	1:247582145	0	A	247582145	C	A	247582145	3	1	88	1	0	0	0	0	1	0	0	0	10546	680	24	3	51	3	NLRP3	1	247582145	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89523	247582145	1668476	1975	9687											
NLRP3	114548	broad.mit.edu	37	chr1	247588135	247588135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggagcacggcctctgcGcccacctctgggggctctgc	14	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247588135G>A	ENST00000366497.2	+	4	2170	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.A464T|NLRP3_ENST00000348069.2_Missense_Mutation_p.A464T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A464T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A464T|NLRP3_ENST00000336119.3_Missense_Mutation_p.A464T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	464	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGGCCTCTGCGCCCACCTCTG	0.597													False	0	True	1:247588135	0	A	247588135	G	A	247588135	3	1	88	1	0	0	0	0	1	0	0	0	10546	1087	38	1	1400	1	NLRP3	1	247588135	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5990	247588135	1662486	1976	9688											
NLRP3	114548	broad.mit.edu	37	chr1	247588472	247588472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggtatttgatttttgTtgtacgtttcctctttggcc	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247588472T>C	ENST00000366497.2	+	4	2507	c.1727T>C	c.(1726-1728)gTt>gCt	p.V576A	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.V576A|NLRP3_ENST00000348069.2_Missense_Mutation_p.V576A|NLRP3_ENST00000366496.2_Missense_Mutation_p.V576A|NLRP3_ENST00000391827.2_Missense_Mutation_p.V576A|NLRP3_ENST00000336119.3_Missense_Mutation_p.V576A	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	576					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTGATTTTTGTTGTACGTTTC	0.473													False	0	False	1:247588472	0	C	247588472	T	C	247588472	3	2	88	1	0	0	0	0	1	0	0	0	10546	1725	60	4	1737	4	NLRP3	1	247588472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	337	247588472	1662149	1977	9689											
NLRP3	114548	broad.mit.edu	37	chr1	247597464	247597464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctccttggtcctcagcaGcaaccagaagctggtggagc	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247597464G>A	ENST00000366497.2	+	6	3167	c.2387G>A	c.(2386-2388)aGc>aAc	p.S796N	NLRP3_ENST00000391828.3_Missense_Mutation_p.S796N|NLRP3_ENST00000348069.2_Missense_Mutation_p.S739N|NLRP3_ENST00000366496.2_Missense_Mutation_p.S796N|NLRP3_ENST00000391827.2_Missense_Mutation_p.S739N|NLRP3_ENST00000336119.3_Missense_Mutation_p.S796N	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	853					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTCCTCAGCAGCAACCAGAAG	0.557													False	0	False	1:247597464	0	A	247597464	G	A	247597464	3	1	88	1	0	0	0	0	1	0	0	0	10546	971	34	2	2405	2	NLRP3	1	247597464	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8992	247597464	1653157	1978	9690											
NLRP3	114548	broad.mit.edu	37	chr1	247611772	247611772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacacttcaagaagaaaagcCtgagctgaccgtcgtctttg	9	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247611772C>A	ENST00000366497.2	+	9	3686	c.2906C>A	c.(2905-2907)cCt>cAt	p.P969H	NLRP3_ENST00000391828.3_Missense_Mutation_p.P1026H|NLRP3_ENST00000348069.2_Missense_Mutation_p.P912H|NLRP3_ENST00000366496.2_Missense_Mutation_p.P969H|NLRP3_ENST00000391827.2_Missense_Mutation_p.P969H|NLRP3_ENST00000336119.3_Missense_Mutation_p.P1026H	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	1026					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGAAAAGCCTGAGCTGACC	0.498													False	0	False	1:247611772	0	A	247611772	C	A	247611772	3	1	88	1	0	0	0	0	1	0	0	0	10546	681	24	3	3111	3	NLRP3	1	247611772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14308	247611772	1638849	1979	9691											
OR2B11	127623	broad.mit.edu	37	chr1	247614372	247614372	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctggccagaagtctcctcaGagcccccttcatatctttat	6	15	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247614372G>T	ENST00000318749.6	-	1	936	c.913C>A	c.(913-915)Ctg>Atg	p.L305M		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGTCTCCTCAGAGCCCCCTTC	0.458													False	0	False	1:247614372	0	T	247614372	G	T	247614372	3	4	88	1	0	0	0	0	1	0	0	0	11056	933	33	3	43	3	OR2B11	1	247614372	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2600	247614372	1636249	1980	9692											
OR2W5	0	broad.mit.edu	37	chr1	247654784	247654784	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcctcctggttgtcatgTcccatgaccgctatgtggcc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654784T>C	ENST00000522351.1	+	0	415							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGTTGTCATGTCCCATGACCG	0.612													False	0	True	1:247654784	0	C	247654784	T	C	247654784	1	2	88	0	1	0	0	0	0	0	0	0	11102	1667	58	4		4	OR2W5	1	247654784	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40412	247654784	1595837	1981	9693											
OR2W5	0	broad.mit.edu	37	chr1	247654924	247654924	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgtgtcctcagacgatgcaGctctcccggtgtggacgtcg	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654924G>T	ENST00000522351.1	+	0	555							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGACGATGCAGCTCTCCCGGT	0.557													False	0	False	1:247654924	0	T	247654924	G	T	247654924	1	4	88	0	1	0	0	0	0	0	0	0	11102	962	34	3		3	OR2W5	1	247654924	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140	247654924	1595697	1982	9694											
OR2W5	0	broad.mit.edu	37	chr1	247654999	247654999	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttattgccatgtcttgtgaGgaaaccatgctggtagaagc	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654999G>A	ENST00000522351.1	+	0	630							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTCTTGTGAGGAAACCATGC	0.572													False	0	False	1:247654999	0	A	247654999	G	A	247654999	1	1	88	0	1	0	0	0	0	0	0	0	11102	991	35	2		2	OR2W5	1	247654999	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75	247654999	1595622	1983	9695											
OR2W5	0	broad.mit.edu	37	chr1	247655213	247655213	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatctacgtgtacctgaaGccggccaacagctactccca	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247655213G>A	ENST00000522351.1	+	0	844							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTACCTGAAGCCGGCCAACA	0.517													False	0	False	1:247655213	0	A	247655213	G	A	247655213	1	1	88	0	1	0	0	0	0	0	0	0	11102	971	34	2		2	OR2W5	1	247655213	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214	247655213	1595408	1984	9696											
OR2C3	81472	broad.mit.edu	37	chr1	247695426	247695426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgacagtgtaatggagtgGcctgcagatggcagcgtagc	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247695426G>A	ENST00000366487.3	-	2	749	c.388C>T	c.(388-390)Cca>Tca	p.P130S	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAATGGAGTGGCCTGCAGATG	0.587													False	0	False	1:247695426	0	A	247695426	G	A	247695426	3	1	88	1	0	0	0	0	1	0	0	0	11061	1203	42	2	578	2	OR2C3	1	247695426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40213	247695426	1555195	1985	9697											
OR13G1	441933	broad.mit.edu	37	chr1	247835608	247835608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaggagaatagtaaagggTcaccactgtgagatgagatg	13	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835608T>C	ENST00000359688.2	-	1	757	c.736A>G	c.(736-738)Acc>Gcc	p.T246A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGTAAAGGGTCACCACTGTG	0.448													False	0	True	1:247835608	0	C	247835608	T	C	247835608	3	2	88	1	0	0	0	0	1	0	0	0	11010	1667	58	4	191	4	OR13G1	1	247835608	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140182	247835608	1415013	1986	9698											
OR13G1	441933	broad.mit.edu	37	chr1	247835702	247835702	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaacaatgataaaaccataGgagatgcaggtaagaataaa	9	5	0	3	rs138408145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835702G>T	ENST00000359688.2	-	1	663	c.642C>A	c.(640-642)tcC>tcA	p.S214S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S214S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAAAACCATAGGAGATGCAGG	0.458													False	0	False	1:247835702	0	T	247835702	G	T	247835702	2	4	88	1	0	0	0	0	0	0	0	1	11010	987	35	3		3	OR13G1	1	247835702	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	247835702	1414919	1987	9699											
OR13G1	441933	broad.mit.edu	37	chr1	247835916	247835916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaatagccatgaccatgCtgagcaaggctacacacata	8	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835916C>T	ENST00000359688.2	-	1	449	c.428G>A	c.(427-429)aGc>aAc	p.S143N	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGACCATGCTGAGCAAGGC	0.468													False	0	False	1:247835916	0	T	247835916	C	T	247835916	3	4	88	1	0	0	0	0	1	0	0	0	11010	797	28	2	499	2	OR13G1	1	247835916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214	247835916	1414705	1988	9700											
OR13G1	441933	broad.mit.edu	37	chr1	247836210	247836210	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgttgttatagattttgGcaatgatgatgagcatgttg	13	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247836210G>T	ENST00000359688.2	-	1	155	c.134C>A	c.(133-135)gCc>gAc	p.A45D	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATAGATTTTGGCAATGATGAT	0.438													False	0	False	1:247836210	0	T	247836210	G	T	247836210	3	4	88	1	0	0	0	0	1	0	0	0	11010	1203	42	3	793	3	OR13G1	1	247836210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294	247836210	1414411	1989	9701											
OR1C1	26188	broad.mit.edu	37	chr1	247921228	247921228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagctgtgctattaggaCagtatgcaggagggcgtgga	17	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247921228C>T	ENST00000408896.2	-	1	754	c.481G>A	c.(481-483)Gtc>Atc	p.V161I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCTATTAGGACAGTATGCAGG	0.507													False	0	False	1:247921228	0	T	247921228	C	T	247921228	3	4	88	1	0	0	0	0	1	0	0	0	11020	478	17	2	465	2	OR1C1	1	247921228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85018	247921228	1329393	1990	9702											
OR14A16	284532	broad.mit.edu	37	chr1	247978167	247978167	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttatggccttgtttctcaAactgtatataatgggattaa	7	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247978167A>C	ENST00000357627.1	-	1	864	c.865T>G	c.(865-867)Ttg>Gtg	p.L289V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTGTTTCTCAAACTGTATATA	0.393													False	0	True	1:247978167	0	C	247978167	A	C	247978167	3	2	88	1	0	0	0	0	1	0	0	0	11013	11	1	4	68	4	OR14A16	1	247978167	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56939	247978167	1272454	1991	9703											
OR14A16	284532	broad.mit.edu	37	chr1	247978191	247978191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtatataatgggattaaaggTtgggggcagcatagtgtaga	15	2	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247978191T>C	ENST00000357627.1	-	1	840	c.841A>G	c.(841-843)Acc>Gcc	p.T281A		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGATTAAAGGTTGGGGGCAGC	0.408													False	0	False	1:247978191	0	C	247978191	T	C	247978191	3	2	88	1	0	0	0	0	1	0	0	0	11013	1725	60	4	92	4	OR14A16	1	247978191	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24	247978191	1272430	1992	9704											
OR11L1	391189	broad.mit.edu	37	chr1	248004781	248004781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaccaacctggcacagaGcccacgatgcatgaggaagg	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248004781G>A	ENST00000355784.2	-	1	473	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGGCACAGAGCCCACGATGC	0.602													False	0	True	1:248004781	0	A	248004781	G	A	248004781	3	1	88	1	0	0	0	0	1	0	0	0	10998	971	34	2	554	2	OR11L1	1	248004781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26590	248004781	1245840	1993	9705											
OR11L1	391189	broad.mit.edu	37	chr1	248004962	248004962	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaggttggctaggagaagGggcacagtggtggacgtgta	19	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248004962G>T	ENST00000355784.2	-	1	292	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTAGGAGAAGGGGCACAGTGG	0.592													False	0	True	1:248004962	0	T	248004962	G	T	248004962	2	4	88	1	0	0	0	0	0	0	0	1	10998	1219	43	3		3	OR11L1	1	248004962	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181	248004962	1245659	1994	9706											
OR11L1	391189	broad.mit.edu	37	chr1	248005130	248005130	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacaaagagcagggcctgCcattcaagaaggttctggaa	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248005130C>T	ENST00000355784.2	-	1	124	c.69G>A	c.(67-69)tgG>tgA	p.W23*		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGGGCCTGCCATTCAAGAA	0.488													False	0	False	1:248005130	0	T	248005130	C	T	248005130	4	4	88	1	0	0	0	0	0	1	0	0	10998	740	26	2	903	2	OR11L1	1	248005130	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	248005130	1245491	1995	9707											
TRIM58	25893	broad.mit.edu	37	chr1	248031265	248031265	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctgtgctcttcccagAagtaaggctgtcacaaggct	11	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248031265A>C	ENST00000366481.3	+	5	819	c.771A>C	c.(769-771)agA>agC	p.R257S		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	257						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTTCCCAGAAGTAAGGCTG	0.527													False	0	False	1:248031265	0	C	248031265	A	C	248031265	5	2	88	1	0	0	0	0	0	0	1	0	16614	260	9	4	789	4	TRIM58	1	248031265	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26135	248031265	1219356	1996	9708											
OR2W3	343171	broad.mit.edu	37	chr1	248059435	248059435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcctgcgtgagatgcccGccctgatccggatggcctgc	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248059435G>A	ENST00000537741.1	+	3	804	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	OR2W3_ENST00000360358.3_Missense_Mutation_p.A183T			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A183S(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAGATGCCCGCCCTGATCCG	0.637													False	0	True	1:248059435	0	A	248059435	G	A	248059435	3	1	88	1	0	0	0	0	1	0	0	0	11101	1087	38	1	549	1	OR2W3	1	248059435	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28170	248059435	1191186	1997	9709											
OR2W3	343171	broad.mit.edu	37	chr1	248059536	248059536	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccttggtgtttatcctgctCtcttacagctacattgtgag	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248059536C>A	ENST00000537741.1	+	3	905	c.648C>A	c.(646-648)ctC>ctA	p.L216L	OR2W3_ENST00000360358.3_Silent_p.L216L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTATCCTGCTCTCTTACAGCT	0.582													False	0	True	1:248059536	0	A	248059536	C	A	248059536	2	1	88	1	0	0	0	0	0	0	0	1	11101	900	32	3		3	OR2W3	1	248059536	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101	248059536	1191085	1998	9710											
OR2T8	343172	broad.mit.edu	37	chr1	248084330	248084330	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttgaaatcatggaaaatgGgagctatacctcttatttca	7	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248084330G>T	ENST00000319968.4	+	1	11	c.11G>T	c.(10-12)gGg>gTg	p.G4V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGGAAAATGGGAGCTATACC	0.398													False	0	True	1:248084330	0	T	248084330	G	T	248084330	3	4	88	1	0	0	0	0	1	0	0	0	11098	1232	43	3	13	3	OR2T8	1	248084330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24794	248084330	1166291	1999	9711											
OR2L8	391190	broad.mit.edu	37	chr1	248112729	248112729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgactctggcctgcatggaCacctgggtctatgagggcac	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248112729C>T	ENST00000357191.3	+	1	570	c.570C>T	c.(568-570)gaC>gaT	p.D190D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCTGCATGGACACCTGGGTCT	0.473													False	0	False	1:248112729	0	T	248112729	C	T	248112729	2	4	88	1	0	0	0	0	0	0	0	1	11077	477	17	2		2	OR2L8	1	248112729	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28399	248112729	1137892	2000	9712											
OR2L8	391190	broad.mit.edu	37	chr1	248112746	248112746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacacctgggtctatgaggGcacagtgtttttgagtgcca	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248112746G>A	ENST00000357191.3	+	1	587	c.587G>A	c.(586-588)gGc>gAc	p.G196D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	196			G -> C (in dbSNP:rs4925788).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTCTATGAGGGCACAGTGTTT	0.473													False	0	True	1:248112746	0	A	248112746	G	A	248112746	3	1	88	1	0	0	0	0	1	0	0	0	11077	1203	42	2	589	2	OR2L8	1	248112746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	248112746	1137875	2001	9713											
OR2AK2	391191	broad.mit.edu	37	chr1	248129025	248129025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgaagcccttctccttgGttttatgtcttatgatcgct	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248129025G>A	ENST00000366480.3	+	1	491	c.392G>A	c.(391-393)gGt>gAt	p.G131D	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTTCTCCTTGGTTTTATGTCT	0.443													False	0	True	1:248129025	0	A	248129025	G	A	248129025	3	1	88	1	0	0	0	0	1	0	0	0	11054	1261	44	2	394	2	OR2AK2	1	248129025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16279	248129025	1121596	2002	9714											
OR2L2	26246	broad.mit.edu	37	chr1	248202496	248202496	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgattcagaaaatcttctcAgtgaaaatgtagacatacgt	8	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248202496A>G	ENST00000366479.2	+	1	1023	c.927A>G	c.(925-927)tcA>tcG	p.S309S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			AAATCTTCTCAGTGAAAATGT	0.438													False	0	False	1:248202496	0	G	248202496	A	G	248202496	2	3	88	1	0	0	0	0	0	0	0	1	11075	175	7	4		4	OR2L2	1	248202496	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73471	248202496	1048125	2003	9715											
OR2L13	284521	broad.mit.edu	37	chr1	248263566	248263566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaggaataaggaagtcCtgggggctatgaggagagtg	18	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248263566C>T	ENST00000366478.2	+	3	1226	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	OR2L13_ENST00000358120.2_Silent_p.L297L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TAAGGAAGTCCTGGGGGCTAT	0.473													False	0	False	1:248263566	0	T	248263566	C	T	248263566	2	4	88	1	0	0	0	0	0	0	0	1	11074	680	24	2		2	OR2L13	1	248263566	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61070	248263566	987055	2004	9716											
OR2M5	127059	broad.mit.edu	37	chr1	248308805	248308805	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttctgttggctgttatgtCttatgaccgctatattgcca	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308805C>A	ENST00000366476.1	+	1	356	c.356C>A	c.(355-357)tCt>tAt	p.S119Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	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)			GCTGTTATGTCTTATGACCGC	0.453													False	0	False	1:248308805	0	A	248308805	C	A	248308805	3	1	88	1	0	0	0	0	1	0	0	0	11081	913	32	3	358	3	OR2M5	1	248308805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45239	248308805	941816	2005	9717											
OR2M5	127059	broad.mit.edu	37	chr1	248308961	248308961	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttccttctcctactgtgggtCtcgggaaatagcccacttct	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308961C>A	ENST00000366476.1	+	1	512	c.512C>A	c.(511-513)tCt>tAt	p.S171Y		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	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)			TACTGTGGGTCTCGGGAAATA	0.438													False	0	False	1:248308961	0	A	248308961	C	A	248308961	3	1	88	1	0	0	0	0	1	0	0	0	11081	913	32	3	514	3	OR2M5	1	248308961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156	248308961	941660	2006	9718											
OR2T33	391195	broad.mit.edu	37	chr1	248436839	248436839	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatctgcacaccacagccaGcgcgggagatggccttactt	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248436839G>T	ENST00000318021.2	-	1	299	c.278C>A	c.(277-279)gCt>gAt	p.A93D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCACAGCCAGCGCGGGAGAT	0.577													False	0	True	1:248436839	0	T	248436839	G	T	248436839	3	4	88	1	0	0	0	0	1	0	0	0	11092	971	34	3	687	3	OR2T33	1	248436839	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127878	248436839	813782	2007	9719											
OR2T12	127064	broad.mit.edu	37	chr1	248458261	248458261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggatgagggaaaaggggAccaggagcattaacacacag	14	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248458261A>G	ENST00000317996.1	-	1	619	c.620T>C	c.(619-621)gTc>gCc	p.V207A		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGAAAAGGGGACCAGGAGCAT	0.547													False	0	True	1:248458261	0	G	248458261	A	G	248458261	3	3	88	1	0	0	0	0	1	0	0	0	11087	275	10	4	345	4	OR2T12	1	248458261	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21422	248458261	792360	2008	9720											
OR14C36	127066	broad.mit.edu	37	chr1	248512485	248512485	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accctgtgatcgtgaactctCgaatctgcatccagatgaca	8	12	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248512485C>T	ENST00000317861.1	+	1	409	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CGTGAACTCTCGAATCTGCAT	0.507													False	0	False	1:248512485	0	T	248512485	C	T	248512485	4	4	88	1	0	0	0	0	0	1	0	0	11014	876	31	1	411	1	OR14C36	1	248512485	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54224	248512485	738136	2009	9721											
OR2T4	127074	broad.mit.edu	37	chr1	248525877	248525877	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaataaggatgtcatgggggCtctgaagaaaatgttaacag	13	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248525877C>A	ENST00000366475.1	+	1	995	c.995C>A	c.(994-996)gCt>gAt	p.A332D		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	332					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCATGGGGGCTCTGAAGAAA	0.408													False	0	True	1:248525877	0	A	248525877	C	A	248525877	3	1	88	1	0	0	0	0	1	0	0	0	11095	797	28	3	997	3	OR2T4	1	248525877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13392	248525877	724744	2010	9722											
OR2T3	343173	broad.mit.edu	37	chr1	248636985	248636985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatgttcttctacctgaccCtggctggagctgaggttttc	11	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248636985C>A	ENST00000359594.2	+	1	359	c.334C>A	c.(334-336)Ctg>Atg	p.L112M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTACCTGACCCTGGCTGGAGC	0.552													False	0	True	1:248636985	0	A	248636985	C	A	248636985	3	1	88	1	0	0	0	0	1	0	0	0	11091	680	24	3	336	3	OR2T3	1	248636985	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111108	248636985	613636	2011	9723											
OR2G6	391211	broad.mit.edu	37	chr1	248685389	248685389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgtctctggccggtggaGcatggctcagcggcctcatc	15	13	3	0	rs138151830		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248685389G>A	ENST00000343414.4	+	1	474	c.442G>A	c.(442-444)Gca>Aca	p.A148T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A148T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCGGTGGAGCATGGCTCAG	0.577													False	0	False	1:248685389	0	A	248685389	G	A	248685389	3	1	88	1	0	0	0	0	1	0	0	0	11068	971	34	2	444	2	OR2G6	1	248685389	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48404	248685389	565232	2012	9724											
OR2T11	127077	broad.mit.edu	37	chr1	248790026	248790026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaaagacacttcttgCggttcatcaggactgggtat	10	10	3	1	rs150548690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248790026C>T	ENST00000330803.2	-	1	465	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACTTCTTGCGGTTCATCAG	0.547													False	0	False	1:248790026	0	T	248790026	C	T	248790026	3	4	88	1	0	0	0	0	1	0	0	0	11086	768	27	1	550	1	OR2T11	1	248790026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104637	248790026	460595	2013	9725											
SH3BP5L	80851	broad.mit.edu	37	chr1	249108782	249108782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacggcccgctcgtaccgcaGcgctgccttctgtgtctcct	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249108782G>A	ENST00000366472.5	-	5	1632	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.L103L	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	135										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCGTACCGCAGCGCTGCCTTC	0.607													False	0	False	1:249108782	0	A	249108782	G	A	249108782	2	1	88	1	0	0	0	0	0	0	0	1	14329	962	34	2		2	SH3BP5L	1	249108782	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318756	249108782	141839	2014	9726											
ZNF672	79894	broad.mit.edu	37	chr1	249142057	249142057	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccccacgcgaccccgtgTctcagacgcccaccagtgtg	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249142057T>C	ENST00000306562.3	+	4	1330	c.584T>C	c.(583-585)gTc>gCc	p.V195A		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGACCCCGTGTCTCAGACGCC	0.697													False	0	False	1:249142057	0	C	249142057	T	C	249142057	3	2	88	1	0	0	0	0	1	0	0	0	18162	1667	58	4	586	4	ZNF672	1	249142057	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33275	249142057	108564	2015	9727											
ZNF672	79894	broad.mit.edu	37	chr1	249142226	249142226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcgcacacacacgggCgagaagccgtacgcatgtgg	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249142226C>T	ENST00000306562.3	+	4	1499	c.753C>T	c.(751-753)ggC>ggT	p.G251G		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CACACACGGGCGAGAAGCCGT	0.672													False	0	True	1:249142226	0	T	249142226	C	T	249142226	2	4	88	1	0	0	0	0	0	0	0	1	18162	755	27	1		1	ZNF672	1	249142226	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169	249142226	108395	2016	9728											
ZNF692	55657	broad.mit.edu	37	chr1	249151671	249151671	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagcaccagatactgcagAccttttggaggcaaaggctc	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249151671A>G	ENST00000451251.1	-	4	597	c.252T>C	c.(250-252)ggT>ggC	p.G84G	ZNF692_ENST00000366471.3_Silent_p.G79G|ZNF692_ENST00000427146.1_Silent_p.G79G|ZNF692_ENST00000366469.5_Silent_p.G79G|ZNF692_ENST00000306601.4_Silent_p.G79G|ZNF692_ENST00000468455.1_5'UTR	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GATACTGCAGACCTTTTGGAG	0.632													False	0	False	1:249151671	0	G	249151671	A	G	249151671	2	3	88	1	0	0	0	0	0	0	0	1	18180	262	10	4		4	ZNF692	1	249151671	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9445	249151671	98950	2017	9729											
PGBD2	0	broad.mit.edu	37	chr1	249212090	249212090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtgaggctgaccagtcGtcactctggagcagctaaaa	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249212090G>A	ENST00000355360.4	+	3	824	c.554G>A	c.(553-555)cGt>cAt	p.R185H	PGBD2_ENST00000329291.5_Missense_Mutation_p.R436H|PGBD2_ENST00000539153.1_Missense_Mutation_p.R433H	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	436										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGACCAGTCGTCACTCTGGA	0.552													False	0	False	1:249212090	0	A	249212090	G	A	249212090	3	1	88	1	0	0	0	0	1	0	0	0	11850	1145	40	1	1313	1	PGBD2	1	249212090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60419	249212090	38531	2018	9730											
SNTG2	54221	broad.mit.edu	37	chr2	1243543	1243543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaatgctgctctccttccGaccaggtagggtttgtattt	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1243543G>A	ENST00000308624.5	+	11	1012	c.883G>A	c.(883-885)Gac>Aac	p.D295N	SNTG2_ENST00000407292.1_Missense_Mutation_p.D168N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	295					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTCTCCTTCCGACCAGGTAGG	0.473													False	0	False	2:1243543	0	A	1243543	G	A	1243543	3	1	88	1	0	0	0	0	1	0	0	0	14955	1058	37	1	925	1	SNTG2	2	1243543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		1243543	241955830	2019	9731											
TPO	7173	broad.mit.edu	37	chr2	1457548	1457548	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacggcttcagtcagcccCgaggctggaaccccggcttc	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1457548C>T	ENST00000345913.4	+	6	656	c.565C>T	c.(565-567)Cga>Tga	p.R189*	TPO_ENST00000382198.1_Nonsense_Mutation_p.R189*|TPO_ENST00000337415.3_Nonsense_Mutation_p.R189*|TPO_ENST00000382201.3_Nonsense_Mutation_p.R189*|TPO_ENST00000329066.4_Nonsense_Mutation_p.R189*|TPO_ENST00000346956.3_Nonsense_Mutation_p.R189*|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Nonsense_Mutation_p.R189*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	189					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAGTCAGCCCCGAGGCTGGAA	0.602													False	0	True	2:1457548	0	T	1457548	C	T	1457548	4	4	88	1	0	0	0	0	0	1	0	0	16493	644	23	1	583	1	TPO	2	1457548	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214005	1457548	241741825	2020	9732											
TPO	7173	broad.mit.edu	37	chr2	1459850	1459850	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtctcttcctacccaggtCcgggaggtgacaagacatgt	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1459850C>T	ENST00000345913.4	+	7	706	c.615C>T	c.(613-615)gtC>gtT	p.V205V	TPO_ENST00000382198.1_Silent_p.V205V|TPO_ENST00000337415.3_Silent_p.V205V|TPO_ENST00000382201.3_Silent_p.V205V|TPO_ENST00000329066.4_Silent_p.V205V|TPO_ENST00000346956.3_Silent_p.V205V|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.V205V	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	205					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTACCCAGGTCCGGGAGGTGA	0.498													False	0	False	2:1459850	0	T	1459850	C	T	1459850	2	4	88	1	0	0	0	0	0	0	0	1	16493	842	30	2		2	TPO	2	1459850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2302	1459850	241739523	2021	9733											
TPO	7173	broad.mit.edu	37	chr2	1497599	1497599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgagtggagggagttctgCggcctgcctcgcctggagac	16	10	1	2	rs141377851	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1497599C>T	ENST00000345913.4	+	11	1885	c.1794C>T	c.(1792-1794)tgC>tgT	p.C598C	TPO_ENST00000382198.1_Silent_p.C425C|TPO_ENST00000337415.3_Silent_p.C598C|TPO_ENST00000382201.3_Silent_p.C541C|TPO_ENST00000329066.4_Silent_p.C598C|TPO_ENST00000346956.3_Silent_p.C598C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.C425C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	598					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGTTCTGCGGCCTGCCTC	0.577													False	0	False	2:1497599	0	T	1497599	C	T	1497599	2	4	88	1	0	0	0	0	0	0	0	1	16493	776	27	1		1	TPO	2	1497599	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37749	1497599	241701774	2022	9734											
PXDN	7837	broad.mit.edu	37	chr2	1647332	1647332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccggggagaacaccccagGgttctcataccacaacctgg	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1647332G>T	ENST00000252804.4	-	19	3810	c.3760C>A	c.(3760-3762)Cct>Act	p.P1254T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1254					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AACACCCCAGGGTTCTCATAC	0.567													False	0	True	2:1647332	0	T	1647332	G	T	1647332	3	4	88	1	0	0	0	0	1	0	0	0	12926	1232	43	3	699	3	PXDN	2	1647332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149733	1647332	241552041	2023	9735											
PXDN	7837	broad.mit.edu	37	chr2	1651965	1651965	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagtttctcccggatcTcagggtttttaatctcattt	6	9	4	0	rs13398588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1651965T>G	ENST00000252804.4	-	17	3637	c.3587A>C	c.(3586-3588)gAg>gCg	p.E1196A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1196					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTCCCGGATCTCAGGGTTTTT	0.527													False	0	False	2:1651965	0	G	1651965	T	G	1651965	3	3	88	1	0	0	0	0	1	0	0	0	12926	1551	54	4	880	4	PXDN	2	1651965	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4633	1651965	241547408	2024	9736											
PXDN	7837	broad.mit.edu	37	chr2	1652088	1652088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctggatgttgatggccGccaggtccagagccaccgtg	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1652088G>A	ENST00000252804.4	-	17	3514	c.3464C>T	c.(3463-3465)gCg>gTg	p.A1155V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1155					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTGATGGCCGCCAGGTCCAG	0.642													False	0	False	2:1652088	0	A	1652088	G	A	1652088	3	1	88	1	0	0	0	0	1	0	0	0	12926	1087	38	1	1003	1	PXDN	2	1652088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123	1652088	241547285	2025	9737											
PXDN	7837	broad.mit.edu	37	chr2	1653036	1653036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtccgtcggagaagcgtGcctggctcagggccaccacc	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1653036G>A	ENST00000252804.4	-	17	2566	c.2516C>T	c.(2515-2517)gCa>gTa	p.A839V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	839					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGAGAAGCGTGCCTGGCTCAG	0.652													False	0	False	2:1653036	0	A	1653036	G	A	1653036	3	1	88	1	0	0	0	0	1	0	0	0	12926	1319	46	2	1951	2	PXDN	2	1653036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	948	1653036	241546337	2026	9738											
PXDN	7837	broad.mit.edu	37	chr2	1667419	1667419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgaccttctgggagcCgatgatgttgacagcctggc	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1667419C>A	ENST00000252804.4	-	12	1575	c.1525G>T	c.(1525-1527)Ggc>Tgc	p.G509C		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	509	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTCTGGGAGCCGATGATGTTG	0.567													False	0	False	2:1667419	0	A	1667419	C	A	1667419	3	1	88	1	0	0	0	0	1	0	0	0	12926	652	23	3	2962	3	PXDN	2	1667419	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14383	1667419	241531954	2027	9739											
PXDN	7837	broad.mit.edu	37	chr2	1677465	1677465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcgtcttcacctctccgGccacgttctttgccatgcac	7	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1677465G>A	ENST00000252804.4	-	9	1018	c.968C>T	c.(967-969)gCc>gTc	p.A323V	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	323	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CACCTCTCCGGCCACGTTCTT	0.557													False	0	False	2:1677465	0	A	1677465	G	A	1677465	3	1	88	1	0	0	0	0	1	0	0	0	12926	1203	42	2	3531	2	PXDN	2	1677465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10046	1677465	241521908	2028	9740											
PXDN	7837	broad.mit.edu	37	chr2	1680761	1680761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgcaggtgaagtacacGgtgttccccgaggtcacatc	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1680761G>A	ENST00000252804.4	-	8	836	c.786C>T	c.(784-786)acC>acT	p.T262T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	262	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGAAGTACACGGTGTTCCCCG	0.547													False	0	False	2:1680761	0	A	1680761	G	A	1680761	2	1	88	1	0	0	0	0	0	0	0	1	12926	1103	39	1		1	PXDN	2	1680761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3296	1680761	241518612	2029	9741											
PXDN	7837	broad.mit.edu	37	chr2	1687462	1687462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccaagtgattaaatgtccCtggaactaaatgtgtaatcc	7	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1687462C>A	ENST00000252804.4	-	6	576	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	176					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTAAATGTCCCTGGAACTAAA	0.308													False	0	True	2:1687462	0	A	1687462	C	A	1687462	3	1	88	1	0	0	0	0	1	0	0	0	12926	681	24	3	3985	3	PXDN	2	1687462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6701	1687462	241511911	2030	9742											
MYT1L	23040	broad.mit.edu	37	chr2	1796203	1796203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcactttgttctcctcttCgatggtcttcaggttgctct	7	11	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1796203C>T	ENST00000399161.2	-	24	4057	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E1102K|MYT1L_ENST00000407844.1_Missense_Mutation_p.E102K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1104					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCTCCTCTTCGATGGTCTTC	0.552													False	0	False	2:1796203	0	T	1796203	C	T	1796203	3	4	88	1	0	0	0	0	1	0	0	0	10174	893	31	1	258	1	MYT1L	2	1796203	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108741	1796203	241403170	2031	9743											
MYT1L	23040	broad.mit.edu	37	chr2	1893190	1893190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcagctgtcccgcggCctctgcttgttcatgctgag	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1893190C>T	ENST00000399161.2	-	16	3090	c.2343G>A	c.(2341-2343)agG>agA	p.R781R	MYT1L_ENST00000428368.2_Silent_p.R779R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	781					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCCCGCGGCCTCTGCTTGT	0.617													False	0	False	2:1893190	0	T	1893190	C	T	1893190	2	4	88	1	0	0	0	0	0	0	0	1	10174	738	26	2		2	MYT1L	2	1893190	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96987	1893190	241306183	2032	9744											
MYT1L	23040	broad.mit.edu	37	chr2	1926559	1926559	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcactgattcctcaaacactCcagactgctcagacacacct	5	16	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1926559C>A	ENST00000399161.2	-	10	1729	c.982G>T	c.(982-984)Gag>Tag	p.E328*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E328*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	328					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCAAACACTCCAGACTGCTC	0.512													False	0	False	2:1926559	0	A	1926559	C	A	1926559	4	1	88	1	0	0	0	0	0	1	0	0	10174	864	30	3	2636	3	MYT1L	2	1926559	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33369	1926559	241272814	2033	9745											
MYT1L	23040	broad.mit.edu	37	chr2	1926671	1926671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatttctactgtcttgctgCgacatgctgtctgcataatt	7	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1926671C>T	ENST00000399161.2	-	10	1617	c.870G>A	c.(868-870)tcG>tcA	p.S290S	MYT1L_ENST00000428368.2_Silent_p.S290S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	290					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCTTGCTGCGACATGCTGT	0.453													False	0	False	2:1926671	0	T	1926671	C	T	1926671	2	4	88	1	0	0	0	0	0	0	0	1	10174	755	27	1		1	MYT1L	2	1926671	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	1926671	241272702	2034	9746											
TSSC1	7260	broad.mit.edu	37	chr2	3196197	3196197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccttacttctcttcagaaCggtggtcctcctggtcactg	9	14	3	1	rs143356052	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3196197C>T	ENST00000398659.4	-	9	1198	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.R326H			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	326							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CTCTTCAGAACGGTGGTCCTC	0.562													False	0	False	2:3196197	0	T	3196197	C	T	3196197	3	4	88	1	0	0	0	0	1	0	0	0	16749	536	19	1	194	1	TSSC1	2	3196197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1269526	3196197	240003176	2035	9747											
TSSC1	7260	broad.mit.edu	37	chr2	3261074	3261074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atatgcaaaatcctaccaggCcatgttgccatgggctgtgt	10	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3261074C>A	ENST00000398659.4	-	5	633	c.493G>T	c.(493-495)Gcc>Tcc	p.A165S	TSSC1_ENST00000443925.2_Missense_Mutation_p.A138S|TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.A138S			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	138							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TCCTACCAGGCCATGTTGCCA	0.557													False	0	False	2:3261074	0	A	3261074	C	A	3261074	3	1	88	1	0	0	0	0	1	0	0	0	16749	739	26	3	775	3	TSSC1	2	3261074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64877	3261074	239938299	2036	9748											
COLEC11	78989	broad.mit.edu	37	chr2	3660908	3660908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcttccacaggggatgcGggagagaagggagacaaagg	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3660908G>A	ENST00000236693.7	+	3	284	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000382062.2_Silent_p.A46A|COLEC11_ENST00000402922.1_Silent_p.A20A|COLEC11_ENST00000349077.4_Silent_p.A46A|COLEC11_ENST00000403096.3_Silent_p.A20A|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000418971.2_Silent_p.A60A|COLEC11_ENST00000402794.1_Intron	NM_199235.2	NP_954705.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	0						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CAGGGGATGCGGGAGAGAAGG	0.597													False	0	True	2:3660908	0	A	3660908	G	A	3660908	3	1	88	1	0	0	0	0	1	0	0	0	3734	1116	39	1	144	1	COLEC11	2	3660908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	399834	3660908	239538465	2037	9749											
ALLC	55821	broad.mit.edu	37	chr2	3727504	3727504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatccaaggagtcatccGgggcttcgacgtggacgttt	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3727504G>A	ENST00000252505.3	+	5	380	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	92							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGAGTCATCCGGGGCTTCGAC	0.552										HNSCC(21;0.051)			False	0	True	2:3727504	0	A	3727504	G	A	3727504	3	1	88	1	0	0	0	0	1	0	0	0	534	1116	39	1	232	1	ALLC	2	3727504	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66596	3727504	239471869	2038	9750											
ALLC	55821	broad.mit.edu	37	chr2	3745013	3745013	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcacatcctggagtaataActcgaattgaaattgacaca	8	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3745013A>C	ENST00000252505.3	+	10	979	c.817A>C	c.(817-819)Act>Cct	p.T273P	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	292							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TGGAGTAATAACTCGAATTGA	0.368										HNSCC(21;0.051)			False	0	False	2:3745013	0	C	3745013	A	C	3745013	3	2	88	1	0	0	0	0	1	0	0	0	534	43	2	4	851	4	ALLC	2	3745013	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17509	3745013	239454360	2039	9751											
SOX11	6664	broad.mit.edu	37	chr2	5832882	5832882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcggagagcttggaagCggagagcaacctgccccggg	18	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5832882C>T	ENST00000322002.3	+	1	84	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	10					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCTTGGAAGCGGAGAGCAAC	0.697													False	0	False	2:5832882	0	T	5832882	C	T	5832882	3	4	88	1	0	0	0	0	1	0	0	0	15022	768	27	1	31	1	SOX11	2	5832882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2087869	5832882	237366491	2040	9752											
SOX11	6664	broad.mit.edu	37	chr2	5832971	5832971	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctggacgagagcgacccaGactggtgcaagacggcgtcg	15	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5832971G>T	ENST00000322002.3	+	1	173	c.118G>T	c.(118-120)Gac>Tac	p.D40Y		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	40					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GAGCGACCCAGACTGGTGCAA	0.632													False	0	False	2:5832971	0	T	5832971	G	T	5832971	3	4	88	1	0	0	0	0	1	0	0	0	15022	942	33	3	120	3	SOX11	2	5832971	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89	5832971	237366402	2041	9753											
SOX11	6664	broad.mit.edu	37	chr2	5833253	5833253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccctcggccaagcccagcGccagccagagcccagagaag	11	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5833253G>A	ENST00000322002.3	+	1	455	c.400G>A	c.(400-402)Gcc>Acc	p.A134T		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	134					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CAAGCCCAGCGCCAGCCAGAG	0.706													False	0	True	2:5833253	0	A	5833253	G	A	5833253	3	1	88	1	0	0	0	0	1	0	0	0	15022	1087	38	1	402	1	SOX11	2	5833253	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	282	5833253	237366120	2042	9754											
RSAD2	91543	broad.mit.edu	37	chr2	7027154	7027154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggccaaggaaagaagaaCcatgtggaaaaccttcaaaa	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:7027154C>T	ENST00000382040.3	+	3	733	c.597C>T	c.(595-597)aaC>aaT	p.N199N	RSAD2_ENST00000541728.1_Silent_p.N92N	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	199					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAAGAAGAACCATGTGGAAA	0.438													False	0	False	2:7027154	0	T	7027154	C	T	7027154	2	4	88	1	0	0	0	0	0	0	0	1	13774	506	18	2		2	RSAD2	2	7027154	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1193901	7027154	236172219	2043	9755											
RNF144A	9781	broad.mit.edu	37	chr2	7170280	7170280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttccttctgatacactaCgataagggaccctgccggaa	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:7170280C>T	ENST00000320892.6	+	8	1123	c.681C>T	c.(679-681)taC>taT	p.Y227Y	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	227						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGATACACTACGATAAGGGAC	0.542													False	0	False	2:7170280	0	T	7170280	C	T	7170280	2	4	88	1	0	0	0	0	0	0	0	1	13524	547	19	1		1	RNF144A	2	7170280	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143126	7170280	236029093	2044	9756											
KIDINS220	57498	broad.mit.edu	37	chr2	8871069	8871069	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaattccctccatctcatcGaaattttgattggctctgtt	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871069G>A	ENST00000256707.3	-	30	5278	c.5097C>T	c.(5095-5097)ttC>ttT	p.F1699F	KIDINS220_ENST00000473731.1_Silent_p.F1680F|KIDINS220_ENST00000418530.1_Silent_p.F1600F|KIDINS220_ENST00000427284.1_Silent_p.F1680F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1699					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATCTCATCGAAATTTTGAT	0.468													False	0	True	2:8871069	0	A	8871069	G	A	8871069	2	1	88	1	0	0	0	0	0	0	0	1	8321	1049	37	1		1	KIDINS220	2	8871069	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1700789	8871069	234328304	2045	9757											
KIDINS220	57498	broad.mit.edu	37	chr2	8871237	8871237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcttctgaacaaatggaCatccgagctataattggatc	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871237C>T	ENST00000256707.3	-	30	5110	c.4929G>A	c.(4927-4929)atG>atA	p.M1643I	KIDINS220_ENST00000473731.1_Missense_Mutation_p.M1624I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.M1544I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M1624I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1643					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AACAAATGGACATCCGAGCTA	0.493													False	0	False	2:8871237	0	T	8871237	C	T	8871237	3	4	88	1	0	0	0	0	1	0	0	0	8321	478	17	2	390	2	KIDINS220	2	8871237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	8871237	234328136	2046	9758											
KIDINS220	57498	broad.mit.edu	37	chr2	8871626	8871626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggagtttttgatagcgcaGcccacttcccttaagcttca	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871626G>A	ENST00000256707.3	-	30	4721	c.4540C>T	c.(4540-4542)Ctg>Ttg	p.L1514L	KIDINS220_ENST00000473731.1_Silent_p.L1495L|KIDINS220_ENST00000418530.1_Silent_p.L1415L|KIDINS220_ENST00000427284.1_Silent_p.L1495L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1514					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGATAGCGCAGCCCACTTCCC	0.458													False	0	True	2:8871626	0	A	8871626	G	A	8871626	2	1	88	1	0	0	0	0	0	0	0	1	8321	962	34	2		2	KIDINS220	2	8871626	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389	8871626	234327747	2047	9759											
KIDINS220	57498	broad.mit.edu	37	chr2	8910878	8910878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatatgagccatgaagtcCggtatggccactgctcagta	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8910878C>T	ENST00000256707.3	-	22	3114	c.2933G>A	c.(2932-2934)cGg>cAg	p.R978Q	KIDINS220_ENST00000319688.5_Missense_Mutation_p.R979Q|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R978Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R936Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R978Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	978					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATGAAGTCCGGTATGGCCA	0.398													False	0	False	2:8910878	0	T	8910878	C	T	8910878	3	4	88	1	0	0	0	0	1	0	0	0	8321	652	23	1	2418	1	KIDINS220	2	8910878	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39252	8910878	234288495	2048	9760											
KIDINS220	57498	broad.mit.edu	37	chr2	8926424	8926424	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcatccgagagggttgcaatCatttcagccagagaagtttc	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8926424C>T	ENST00000256707.3	-	16	2032	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	KIDINS220_ENST00000319688.5_Missense_Mutation_p.M618I|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M617I|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M617I|KIDINS220_ENST00000418530.1_Missense_Mutation_p.M575I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	617	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGGTTGCAATCATTTCAGCCA	0.383													False	0	False	2:8926424	0	T	8926424	C	T	8926424	3	4	88	1	0	0	0	0	1	0	0	0	8321	826	29	2	3524	2	KIDINS220	2	8926424	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15546	8926424	234272949	2049	9761											
KIDINS220	57498	broad.mit.edu	37	chr2	8936988	8936988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtagcctttataagtggCgtttcaccatcctgtgggca	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8936988C>T	ENST00000256707.3	-	11	1192	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	KIDINS220_ENST00000319688.5_Silent_p.T338T|KIDINS220_ENST00000427284.1_Silent_p.T337T|KIDINS220_ENST00000473731.1_Silent_p.T337T|KIDINS220_ENST00000418530.1_Silent_p.T295T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	337					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTATAAGTGGCGTTTCACCAT	0.398													False	0	False	2:8936988	0	T	8936988	C	T	8936988	2	4	88	1	0	0	0	0	0	0	0	1	8321	755	27	1		1	KIDINS220	2	8936988	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10564	8936988	234262385	2050	9762											
KIDINS220	57498	broad.mit.edu	37	chr2	8957806	8957806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcctctacgatgtgcacaTgcccttctttcgatgcagat	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8957806T>C	ENST00000256707.3	-	4	429	c.248A>G	c.(247-249)cAt>cGt	p.H83R	KIDINS220_ENST00000319688.5_Missense_Mutation_p.H83R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.H83R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.H83R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.H41R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	83					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GATGTGCACATGCCCTTCTTT	0.343													False	0	False	2:8957806	0	C	8957806	T	C	8957806	3	2	88	1	0	0	0	0	1	0	0	0	8321	1464	51	4	5175	4	KIDINS220	2	8957806	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20818	8957806	234241567	2051	9763											
ASAP2	8853	broad.mit.edu	37	chr2	9463281	9463281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggagaaaaaggaacacGccaagctccatgggatgatt	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9463281G>A	ENST00000281419.3	+	6	842	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	ASAP2_ENST00000315273.4_Missense_Mutation_p.A168T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	168					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAAGGAACACGCCAAGCTCCA	0.493													False	0	False	2:9463281	0	A	9463281	G	A	9463281	3	1	88	1	0	0	0	0	1	0	0	0	1015	1087	38	1	524	1	ASAP2	2	9463281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	505475	9463281	233736092	2052	9764											
ASAP2	8853	broad.mit.edu	37	chr2	9541430	9541430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcctaagcgggtgaaaGcgctctataactgtgtggct	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9541430G>A	ENST00000281419.3	+	27	3191	c.2851G>A	c.(2851-2853)Gcg>Acg	p.A951T	ASAP2_ENST00000315273.4_Missense_Mutation_p.A906T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	951	SH3.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GCGGGTGAAAGCGCTCTATAA	0.592													False	0	True	2:9541430	0	A	9541430	G	A	9541430	3	1	88	1	0	0	0	0	1	0	0	0	1015	971	34	2	2957	2	ASAP2	2	9541430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78149	9541430	233657943	2053	9765											
IAH1	285148	broad.mit.edu	37	chr2	9621566	9621566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcctgggaagaacagtgCatcatacaaggtaaacaaac	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9621566C>T	ENST00000470914.1	+	3	412	c.96C>T	c.(94-96)tgC>tgT	p.C32C	IAH1_ENST00000545602.1_Silent_p.C32C|IAH1_ENST00000482918.1_Silent_p.C32C|IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000497473.1_Silent_p.C145C			Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	145					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGAACAGTGCATCATACAAG	0.512													False	0	False	2:9621566	0	T	9621566	C	T	9621566	2	4	88	1	0	0	0	0	0	0	0	1	7521	718	25	2		2	IAH1	2	9621566	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80136	9621566	233577807	2054	9766											
ADAM17	6868	broad.mit.edu	37	chr2	9658104	9658104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagatatttttcttcccaaCtgggctataataagctaaag	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9658104C>T	ENST00000310823.3	-	10	1299	c.1117G>A	c.(1117-1119)Gtt>Att	p.V373I		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	373	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TTCTTCCCAACTGGGCTATAA	0.289													False	0	False	2:9658104	0	T	9658104	C	T	9658104	3	4	88	1	0	0	0	0	1	0	0	0	238	565	20	2	1397	2	ADAM17	2	9658104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36538	9658104	233541269	2055	9767											
ADAM17	6868	broad.mit.edu	37	chr2	9676016	9676016	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgattataacatcatcatCtcttatgtgggctagaaccc	6	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9676016C>T	ENST00000310823.3	-	4	579	c.397G>A	c.(397-399)Gat>Aat	p.D133N	ADAM17_ENST00000497134.1_Missense_Mutation_p.D133N	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	133					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ACATCATCATCTCTTATGTGG	0.299													False	0	True	2:9676016	0	T	9676016	C	T	9676016	3	4	88	1	0	0	0	0	1	0	0	0	238	913	32	2	2141	2	ADAM17	2	9676016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17912	9676016	233523357	2056	9768											
ADAM17	6868	broad.mit.edu	37	chr2	9695662	9695662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctggtgggggccgaagcCcgggtcatccggaggtcgcg	18	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9695662C>T	ENST00000310823.3	-	1	255	c.73G>A	c.(73-75)Ggc>Agc	p.G25S	ADAM17_ENST00000497134.1_Missense_Mutation_p.G25S	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	25					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GGGCCGAAGCCCGGGTCATCC	0.652											OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	2:9695662	0	T	9695662	C	T	9695662	3	4	88	1	0	0	0	0	1	0	0	0	238	623	22	2	2477	2	ADAM17	2	9695662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19646	9695662	233503711	2057	9769											
TAF1B	9014	broad.mit.edu	37	chr2	10045080	10045080	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagacataactgaagactgCtatcttcatcccaacatact	4	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10045080C>A	ENST00000263663.5	+	9	1088	c.900C>A	c.(898-900)tgC>tgA	p.C300*	TAF1B_ENST00000396242.3_Nonsense_Mutation_p.C45*	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	300					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGAAGACTGCTATCTTCATC	0.388													False	0	False	2:10045080	0	A	10045080	C	A	10045080	4	1	88	1	0	0	0	0	0	1	0	0	15602	805	28	3	934	3	TAF1B	2	10045080	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	349418	10045080	233154293	2058	9770											
TAF1B	9014	broad.mit.edu	37	chr2	10051681	10051681	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagcataatgaaaagaacaAaaaaggtattttaatttttt	5	2	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10051681A>G	ENST00000263663.5	+	11	1363	c.1175A>G	c.(1174-1176)aAa>aGa	p.K392R	TAF1B_ENST00000396242.3_Missense_Mutation_p.K137R	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	392					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAAAAGAACAAAAAAGGTATT	0.249													False	0	True	2:10051681	0	G	10051681	A	G	10051681	3	3	88	1	0	0	0	0	1	0	0	0	15602	14	1	4	1217	4	TAF1B	2	10051681	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6601	10051681	233147692	2059	9771											
TAF1B	9014	broad.mit.edu	37	chr2	10073915	10073915	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttcccttctagctaTtgtacacatgtgacaaccta	4	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10073915T>C	ENST00000263663.5	+	15	1757	c.1569T>C	c.(1567-1569)taT>taC	p.Y523Y	TAF1B_ENST00000396242.3_Silent_p.Y268Y	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	523					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCTAGCTATTGTACACATG	0.348													False	0	False	2:10073915	0	C	10073915	T	C	10073915	2	2	88	1	0	0	0	0	0	0	0	1	15602	1500	52	4		4	TAF1B	2	10073915	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22234	10073915	233125458	2060	9772											
GRHL1	29841	broad.mit.edu	37	chr2	10101440	10101440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcctgagcccactgagCgggtggtggttttcgatcgg	14	10	1	2	rs141487705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10101440C>T	ENST00000324907.9	+	4	680	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	GRHL1_ENST00000405379.2_Missense_Mutation_p.R182W|GRHL1_ENST00000324883.5_Silent_p.S18S	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	182					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GCCCACTGAGCGGGTGGTGGT	0.542													False	0	True	2:10101440	0	T	10101440	C	T	10101440	3	4	88	1	0	0	0	0	1	0	0	0	6810	759	27	1	558	1	GRHL1	2	10101440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27525	10101440	233097933	2061	9773											
KLF11	8462	broad.mit.edu	37	chr2	10192541	10192541	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacatgacgaccaagaagatCccaggctggcaggcagaggt	13	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10192541C>A	ENST00000535335.1	+	4	1611	c.1395C>A	c.(1393-1395)atC>atA	p.I465I	KLF11_ENST00000305883.1_Silent_p.I482I|KLF11_ENST00000540845.1_Silent_p.I465I	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	482					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CCAAGAAGATCCCAGGCTGGC	0.612													False	0	True	2:10192541	0	A	10192541	C	A	10192541	2	1	88	1	0	0	0	0	0	0	0	1	8389	845	30	3		3	KLF11	2	10192541	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91101	10192541	233006832	2062	9774											
C2orf48	348738	broad.mit.edu	37	chr2	10350578	10350578	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acccctggagcgaccctgttTcagaatgaagttatctgggt	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10350578T>C	ENST00000381786.3	+	4	624	c.335T>C	c.(334-336)tTc>tCc	p.F112S		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	112										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CGACCCTGTTTCAGAATGAAG	0.572													False	0	True	2:10350578	0	C	10350578	T	C	10350578	3	2	88	1	0	0	0	0	1	0	0	0	2186	1783	62	4	345	4	C2orf48	2	10350578	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	158037	10350578	232848795	2063	9775											
NOL10	79954	broad.mit.edu	37	chr2	10712235	10712235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttttgtgtcttgacttcaGgtgtccggccgaacgacgga	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10712235G>T	ENST00000345985.3	-	20	1989	c.1879C>A	c.(1879-1881)Ctg>Atg	p.L627M	NOL10_ENST00000542668.1_Missense_Mutation_p.L627M|NOL10_ENST00000381685.5_Missense_Mutation_p.L677M|NOL10_ENST00000538384.1_Missense_Mutation_p.L651M	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	677						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTTGACTTCAGGTGTCCGGCC	0.473													False	0	False	2:10712235	0	T	10712235	G	T	10712235	3	4	88	1	0	0	0	0	1	0	0	0	10588	991	35	3	41	3	NOL10	2	10712235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	361657	10712235	232487138	2064	9776											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10912016	10912016	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgtgagcaaagaggacttCgtgctggattctgaatatct	11	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10912016C>T	ENST00000381661.3	+	7	631	c.522C>T	c.(520-522)ttC>ttT	p.F174F	ATP6V1C2_ENST00000272238.4_Silent_p.F174F	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	174					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.F174L(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AAGAGGACTTCGTGCTGGATT	0.532													False	0	False	2:10912016	0	T	10912016	C	T	10912016	2	4	88	1	0	0	0	0	0	0	0	1	1185	883	31	1		1	ATP6V1C2	2	10912016	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199781	10912016	232287357	2065	9777											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10918751	10918751	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtgaagccttcattgcctgGatccacatcaaggccctgag	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10918751G>T	ENST00000381661.3	+	11	988	c.879G>T	c.(877-879)tgG>tgT	p.W293C	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.W339C	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	339					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCATTGCCTGGATCCACATCA	0.622													False	0	False	2:10918751	0	T	10918751	G	T	10918751	3	4	88	1	0	0	0	0	1	0	0	0	1185	1183	41	3	1059	3	ATP6V1C2	2	10918751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6735	10918751	232280622	2066	9778											
PDIA6	10130	broad.mit.edu	37	chr2	10931982	10931982	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaaacatcttcactgtccaGaacattcttatcaaagctgt	4	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10931982G>T	ENST00000404371.2	-	8	1016	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	PDIA6_ENST00000404824.2_Missense_Mutation_p.L223M|PDIA6_ENST00000540494.1_Missense_Mutation_p.L172M|PDIA6_ENST00000381611.4_Missense_Mutation_p.L180M|PDIA6_ENST00000272227.3_Missense_Mutation_p.L175M	NM_001282704.1	NP_001269633.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	175	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TCACTGTCCAGAACATTCTTA	0.398													False	0	False	2:10931982	0	T	10931982	G	T	10931982	3	4	88	1	0	0	0	0	1	0	0	0	11740	933	33	3	831	3	PDIA6	2	10931982	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13231	10931982	232267391	2067	9779											
KCNF1	3754	broad.mit.edu	37	chr2	11052960	11052960	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacctgagcgagaagcgcgaGgagctggaggagatcgcgcg	18	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11052960G>T	ENST00000295082.1	+	1	898	c.408G>T	c.(406-408)gaG>gaT	p.E136D		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	136						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGAAGCGCGAGGAGCTGGAGG	0.642													False	0	False	2:11052960	0	T	11052960	G	T	11052960	3	4	88	1	0	0	0	0	1	0	0	0	8076	991	35	3	410	3	KCNF1	2	11052960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120978	11052960	232146413	2068	9780											
C2orf50	130813	broad.mit.edu	37	chr2	11273597	11273597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggtcttgctggtggctGccaggccccccaggctctga	15	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11273597G>A	ENST00000381585.3	+	1	419	c.137G>A	c.(136-138)tGc>tAc	p.C46Y	C2orf50_ENST00000405022.3_Missense_Mutation_p.C46Y			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	46										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GCTGGTGGCTGCCAGGCCCCC	0.711													False	0	False	2:11273597	0	A	11273597	G	A	11273597	3	1	88	1	0	0	0	0	1	0	0	0	2188	1319	46	2	139	2	C2orf50	2	11273597	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220637	11273597	231925776	2069	9781											
ROCK2	9475	broad.mit.edu	37	chr2	11337362	11337362	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactgcctatactggaactaTccagaccaatatgcaaggct	7	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11337362T>C	ENST00000315872.6	-	27	3840	c.3392A>G	c.(3391-3393)gAt>gGt	p.D1131G	ROCK2_ENST00000401753.1_Missense_Mutation_p.D888G	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1131		Cleavage; by granzyme B.			axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ACTGGAACTATCCAGACCAAT	0.433													False	0	False	2:11337362	0	C	11337362	T	C	11337362	3	2	88	1	0	0	0	0	1	0	0	0	13597	1435	50	4	802	4	ROCK2	2	11337362	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63765	11337362	231862011	2070	9782											
E2F6	1876	broad.mit.edu	37	chr2	11597324	11597324	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttctcatggacacatattgTacattatcttctaaattaat	3	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11597324T>C	ENST00000381525.3	-	2	413	c.144A>G	c.(142-144)gtA>gtG	p.V48V	E2F6_ENST00000362009.4_Silent_p.V48V|E2F6_ENST00000307236.4_Silent_p.V16V|E2F6_ENST00000542100.1_5'UTR|E2F6_ENST00000546212.1_Intron	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	48					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		ACACATATTGTACATTATCTT	0.249													False	0	False	2:11597324	0	C	11597324	T	C	11597324	2	2	88	1	0	0	0	0	0	0	0	1	4901	1625	57	4		4	E2F6	2	11597324	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	259962	11597324	231602049	2071	9783											
GREB1	9687	broad.mit.edu	37	chr2	11733252	11733252	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctgcatcgccgtcaccGgtgagctctgggccgcgcgg	14	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11733252G>A	ENST00000381486.2	+	11	1996	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R	GREB1_ENST00000234142.5_Splice_Site_p.G566R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	566						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGCCGTCACCGGTGAGCTCTG	0.657													False	0	False	2:11733252	0	A	11733252	G	A	11733252	5	1	88	1	0	0	0	0	0	0	1	0	6807	1130	39	1	1842	1	GREB1	2	11733252	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135928	11733252	231466121	2072	9784											
GREB1	9687	broad.mit.edu	37	chr2	11738934	11738934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaaactccttccagaacCcgcatacactttttgtccta	4	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11738934C>T	ENST00000381486.2	+	15	2581	c.2281C>T	c.(2281-2283)Ccg>Tcg	p.P761S	GREB1_ENST00000234142.5_Missense_Mutation_p.P761S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	761						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTCCAGAACCCGCATACACT	0.433													False	0	True	2:11738934	0	T	11738934	C	T	11738934	3	4	88	1	0	0	0	0	1	0	0	0	6807	623	22	2	2443	2	GREB1	2	11738934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5682	11738934	231460439	2073	9785											
GREB1	9687	broad.mit.edu	37	chr2	11756779	11756779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacctcggagaagagaagCcccatgaaaagggagaggtc	13	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11756779C>T	ENST00000381486.2	+	21	3645	c.3345C>T	c.(3343-3345)agC>agT	p.S1115S	GREB1_ENST00000396123.1_Silent_p.S113S|GREB1_ENST00000234142.5_Silent_p.S1115S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1115	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGAAGAGAAGCCCCATGAAAA	0.547													False	0	True	2:11756779	0	T	11756779	C	T	11756779	2	4	88	1	0	0	0	0	0	0	0	1	6807	738	26	2		2	GREB1	2	11756779	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17845	11756779	231442594	2074	9786											
GREB1	9687	broad.mit.edu	37	chr2	11777873	11777873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgccgcggtcgtgccggCccagtacatctgtgccccgg	13	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11777873C>T	ENST00000381486.2	+	31	5678	c.5378C>T	c.(5377-5379)gCc>gTc	p.A1793V	GREB1_ENST00000396123.1_Missense_Mutation_p.A791V|GREB1_ENST00000234142.5_Missense_Mutation_p.A1793V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1793						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTCGTGCCGGCCCAGTACATC	0.657													False	0	True	2:11777873	0	T	11777873	C	T	11777873	3	4	88	1	0	0	0	0	1	0	0	0	6807	739	26	2	5604	2	GREB1	2	11777873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21094	11777873	231421500	2075	9787											
LPIN1	23175	broad.mit.edu	37	chr2	11922524	11922524	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgaatgaagaagacctggaGaccttaggagcagcagcgcc	14	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11922524G>T	ENST00000256720.2	+	7	1140	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	LPIN1_ENST00000396099.1_Missense_Mutation_p.E391D|LPIN1_ENST00000396098.1_Missense_Mutation_p.E391D|LPIN1_ENST00000425416.2_Missense_Mutation_p.E355D|LPIN1_ENST00000449576.2_Missense_Mutation_p.E434D|LPIN1_ENST00000396097.1_Missense_Mutation_p.E79D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	349					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AAGACCTGGAGACCTTAGGAG	0.522													False	0	False	2:11922524	0	T	11922524	G	T	11922524	3	4	88	1	0	0	0	0	1	0	0	0	8980	933	33	3	1069	3	LPIN1	2	11922524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144651	11922524	231276849	2076	9788											
LPIN1	23175	broad.mit.edu	37	chr2	11955257	11955257	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctgcccgtgccatcgggAtggcggacatgacgcggggc	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11955257A>C	ENST00000256720.2	+	17	2278	c.2185A>C	c.(2185-2187)Atg>Ctg	p.M729L	LPIN1_ENST00000396099.1_Missense_Mutation_p.M771L|LPIN1_ENST00000425416.2_Missense_Mutation_p.M735L|LPIN1_ENST00000404113.2_Missense_Mutation_p.M230L|LPIN1_ENST00000449576.2_Missense_Mutation_p.M814L|LPIN1_ENST00000396097.1_Missense_Mutation_p.M459L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	729	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGCCATCGGGATGGCGGACAT	0.542													False	0	True	2:11955257	0	C	11955257	A	C	11955257	3	2	88	1	0	0	0	0	1	0	0	0	8980	333	12	4	2247	4	LPIN1	2	11955257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32733	11955257	231244116	2077	9789											
TRIB2	28951	broad.mit.edu	37	chr2	12880819	12880819	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accatccttggttttctacaGattttagcgtctcgaattca	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:12880819G>A	ENST00000155926.4	+	3	2350	c.931G>A	c.(931-933)Gat>Aat	p.D311N	TRIB2_ENST00000381465.2_Missense_Mutation_p.D175N	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	311					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTTTCTACAGATTTTAGCGT	0.527													False	0	False	2:12880819	0	A	12880819	G	A	12880819	3	1	88	1	0	0	0	0	1	0	0	0	16566	942	33	2	941	2	TRIB2	2	12880819	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	925562	12880819	230318554	2078	9790											
FAM84A	151354	broad.mit.edu	37	chr2	14774144	14774144	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcacccacctcaactacaGcgagttgcccacaggggacc	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774144G>T	ENST00000295092.2	+	2	329	c.41G>T	c.(40-42)aGc>aTc	p.S14I	FAM84A_ENST00000331243.4_Missense_Mutation_p.S14I	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	14										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CTCAACTACAGCGAGTTGCCC	0.617													False	0	False	2:14774144	0	T	14774144	G	T	14774144	3	4	88	1	0	0	0	0	1	0	0	0	5681	971	34	3	43	3	FAM84A	2	14774144	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1893325	14774144	228425229	2079	9791											
FAM84A	151354	broad.mit.edu	37	chr2	14774452	14774452	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctacgcggtcaccgcgctgCcagcgctctgcgaacccggc	12	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774452C>A	ENST00000295092.2	+	2	637	c.349C>A	c.(349-351)Cca>Aca	p.P117T	FAM84A_ENST00000331243.4_Missense_Mutation_p.P117T	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	117										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CACCGCGCTGCCAGCGCTCTG	0.706													False	0	False	2:14774452	0	A	14774452	C	A	14774452	3	1	88	1	0	0	0	0	1	0	0	0	5681	739	26	3	351	3	FAM84A	2	14774452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308	14774452	228424921	2080	9792											
FAM84A	151354	broad.mit.edu	37	chr2	14774697	14774697	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgcagaacgcctgcggCcacctgggcctcaagagcga	15	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774697C>T	ENST00000295092.2	+	2	882	c.594C>T	c.(592-594)ggC>ggT	p.G198G	FAM84A_ENST00000331243.4_Silent_p.G198G	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	198										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			ACGCCTGCGGCCACCTGGGCC	0.687													False	0	False	2:14774697	0	T	14774697	C	T	14774697	2	4	88	1	0	0	0	0	0	0	0	1	5681	726	26	2		2	FAM84A	2	14774697	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245	14774697	228424676	2081	9793											
FAM84A	151354	broad.mit.edu	37	chr2	14774877	14774877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaaggtccacaccgccagGtttcacagcctggaagacct	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774877G>A	ENST00000295092.2	+	2	1062	c.774G>A	c.(772-774)agG>agA	p.R258R	FAM84A_ENST00000331243.4_Silent_p.R258R	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	258										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			ACACCGCCAGGTTTCACAGCC	0.657													False	0	True	2:14774877	0	A	14774877	G	A	14774877	2	1	88	1	0	0	0	0	0	0	0	1	5681	1252	44	2		2	FAM84A	2	14774877	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180	14774877	228424496	2082	9794											
NBAS	51594	broad.mit.edu	37	chr2	15307260	15307260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccagaaggagagacccgGcttcggcttcatggccggcc	15	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15307260G>A	ENST00000281513.5	-	52	7053	c.7028C>T	c.(7027-7029)gCc>gTc	p.A2343V	NBAS_ENST00000441750.1_Missense_Mutation_p.A2223V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2343										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGAGACCCGGCTTCGGCTTC	0.647													False	0	True	2:15307260	0	A	15307260	G	A	15307260	3	1	88	1	0	0	0	0	1	0	0	0	10253	1203	42	2	91	2	NBAS	2	15307260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	532383	15307260	227892113	2083	9795											
NBAS	51594	broad.mit.edu	37	chr2	15330414	15330414	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacttttcataggtggccaAgcttgcaaaagtaaaaccaa	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15330414A>C	ENST00000281513.5	-	49	6571	c.6546T>G	c.(6544-6546)gcT>gcG	p.A2182A	NBAS_ENST00000441750.1_Silent_p.A2062A	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2182										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAGGTGGCCAAGCTTGCAAAA	0.378													False	0	False	2:15330414	0	C	15330414	A	C	15330414	2	2	88	1	0	0	0	0	0	0	0	1	10253	59	3	4		4	NBAS	2	15330414	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23154	15330414	227868959	2084	9796											
NBAS	51594	broad.mit.edu	37	chr2	15493765	15493765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagccatgagctcttgaCgagtggccaagtcctggtaa	11	10	1	2	rs140188229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15493765C>T	ENST00000281513.5	-	34	4026	c.4001G>A	c.(4000-4002)cGt>cAt	p.R1334H	NBAS_ENST00000441750.1_Missense_Mutation_p.R1214H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1334										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGCTCTTGACGAGTGGCCAA	0.453													False	0	False	2:15493765	0	T	15493765	C	T	15493765	3	4	88	1	0	0	0	0	1	0	0	0	10253	536	19	1	3190	1	NBAS	2	15493765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163351	15493765	227705608	2085	9797											
NBAS	51594	broad.mit.edu	37	chr2	15534373	15534373	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggccagtgtgcctcgtcaAtctaaccatcagcttgcgtg	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15534373A>G	ENST00000281513.5	-	28	3260	c.3235T>C	c.(3235-3237)Ttg>Ctg	p.L1079L	NBAS_ENST00000441750.1_Silent_p.L959L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1079										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCCTCGTCAATCTAACCATC	0.353													False	0	False	2:15534373	0	G	15534373	A	G	15534373	2	3	88	1	0	0	0	0	0	0	0	1	10253	98	4	4		4	NBAS	2	15534373	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40608	15534373	227665000	2086	9798											
NBAS	51594	broad.mit.edu	37	chr2	15555769	15555769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcattagccacaccaggCgactgtttctcacaacgatg	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15555769C>T	ENST00000281513.5	-	25	2863	c.2838G>A	c.(2836-2838)tcG>tcA	p.S946S	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	946										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCACACCAGGCGACTGTTTCT	0.388													False	0	False	2:15555769	0	T	15555769	C	T	15555769	2	4	88	1	0	0	0	0	0	0	0	1	10253	755	27	1		1	NBAS	2	15555769	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21396	15555769	227643604	2087	9799											
NBAS	51594	broad.mit.edu	37	chr2	15564475	15564475	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctatttcctctgctctggtCtgataccagtccataacctt	5	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15564475C>A	ENST00000281513.5	-	23	2566	c.2541G>T	c.(2539-2541)caG>caT	p.Q847H	NBAS_ENST00000441750.1_Missense_Mutation_p.Q847H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	847								p.Q847H(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTGCTCTGGTCTGATACCAGT	0.478													False	0	False	2:15564475	0	A	15564475	C	A	15564475	3	1	88	1	0	0	0	0	1	0	0	0	10253	912	32	3	4694	3	NBAS	2	15564475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8706	15564475	227634898	2088	9800											
NBAS	51594	broad.mit.edu	37	chr2	15601859	15601859	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atattctgatttctgaatttCttaaagaattcagcatcata	4	6	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15601859C>T	ENST00000281513.5	-	20	2179	c.2154G>A	c.(2152-2154)aaG>aaA	p.K718K	NBAS_ENST00000441750.1_Silent_p.K718K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	718										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCTGAATTTCTTAAAGAATT	0.308													False	0	True	2:15601859	0	T	15601859	C	T	15601859	2	4	88	1	0	0	0	0	0	0	0	1	10253	912	32	2		2	NBAS	2	15601859	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37384	15601859	227597514	2089	9801											
MYCN	4613	broad.mit.edu	37	chr2	16085728	16085728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacattcaccatcactgtgCgtcccaagaacgcagccctg	7	17	2	1	rs144939456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:16085728C>T	ENST00000281043.3	+	3	1201	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	302					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CATCACTGTGCGTCCCAAGAA	0.582			A		neuroblastoma								False	0	False	2:16085728	0	T	16085728	C	T	16085728	3	4	88	1	0	0	0	0	1	0	0	0	10088	768	27	1	910	1	MYCN	2	16085728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	483869	16085728	227113645	2090	9802											
FAM49A	81553	broad.mit.edu	37	chr2	16742781	16742781	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtagtagctgaagtcattCtgaatagccgggttcctcat	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:16742781C>A	ENST00000381323.3	-	7	676	c.456G>T	c.(454-456)caG>caT	p.Q152H	FAM49A_ENST00000355549.2_Missense_Mutation_p.Q152H|FAM49A_ENST00000406434.1_Missense_Mutation_p.Q152H	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	152						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TGAAGTCATTCTGAATAGCCG	0.493													False	0	False	2:16742781	0	A	16742781	C	A	16742781	3	1	88	1	0	0	0	0	1	0	0	0	5615	912	32	3	539	3	FAM49A	2	16742781	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	657053	16742781	226456592	2091	9803											
RAD51AP2	729475	broad.mit.edu	37	chr2	17697531	17697531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccaattttccacattcaCaacttgttgaggacaactca	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17697531C>T	ENST00000399080.2	-	1	2175	c.2152G>A	c.(2152-2154)Gtg>Atg	p.V718M		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	718										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCACATTCACAACTTGTTGA	0.318													False	0	False	2:17697531	0	T	17697531	C	T	17697531	3	4	88	1	0	0	0	0	1	0	0	0	13066	478	17	2	1339	2	RAD51AP2	2	17697531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	954750	17697531	225501842	2092	9804											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698100	17698100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttacagcaggttaaaataCtattatcttttttatttcct	4	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17698100C>T	ENST00000399080.2	-	1	1606	c.1583G>A	c.(1582-1584)aGt>aAt	p.S528N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	528										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTTAAAATACTATTATCTTT	0.239													False	0	False	2:17698100	0	T	17698100	C	T	17698100	3	4	88	1	0	0	0	0	1	0	0	0	13066	565	20	2	1908	2	RAD51AP2	2	17698100	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	569	17698100	225501273	2093	9805											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698488	17698488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcaaaatatgtctaaCgttacagtcccagttttgag	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17698488C>T	ENST00000399080.2	-	1	1218	c.1195G>A	c.(1195-1197)Gtt>Att	p.V399I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	399										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATATGTCTAACGTTACAGTCC	0.328													False	0	False	2:17698488	0	T	17698488	C	T	17698488	3	4	88	1	0	0	0	0	1	0	0	0	13066	536	19	1	2296	1	RAD51AP2	2	17698488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	388	17698488	225500885	2094	9806											
VSNL1	7447	broad.mit.edu	37	chr2	17773500	17773500	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatttcagcagctctatgtGaaggtaagttgtttttcaac	9	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17773500G>A	ENST00000406397.1	+	2	684	c.159G>A	c.(157-159)gtG>gtA	p.V53V	VSNL1_ENST00000295156.4_Silent_p.V53V|VSNL1_ENST00000404666.2_Silent_p.V53V			P62760	VISL1_HUMAN	visinin-like 1	53	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCTCTATGTGAAGGTAAGTT	0.398													False	0	False	2:17773500	0	A	17773500	G	A	17773500	2	1	88	1	0	0	0	0	0	0	0	1	17311	1277	45	2		2	VSNL1	2	17773500	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75012	17773500	225425873	2095	9807											
GEN1	348654	broad.mit.edu	37	chr2	17954522	17954522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaaacaaggataaattgGtgaaggttatcaggtaccaa	9	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17954522G>A	ENST00000381254.2	+	10	1241	c.1027G>A	c.(1027-1029)Gtg>Atg	p.V343M	GEN1_ENST00000317402.7_Missense_Mutation_p.V343M|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	343					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGATAAATTGGTGAAGGTTAT	0.274								Homologous recombination					False	0	False	2:17954522	0	A	17954522	G	A	17954522	3	1	88	1	0	0	0	0	1	0	0	0	6380	1261	44	2	1061	2	GEN1	2	17954522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181022	17954522	225244851	2096	9808											
GEN1	348654	broad.mit.edu	37	chr2	17959282	17959282	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttcagaattgttaagactCgaatcagaaatggagttcat	8	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17959282C>T	ENST00000381254.2	+	12	1430	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	GEN1_ENST00000317402.7_Nonsense_Mutation_p.R406*|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	406					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTTAAGACTCGAATCAGAAA	0.269								Homologous recombination					False	0	False	2:17959282	0	T	17959282	C	T	17959282	4	4	88	1	0	0	0	0	0	1	0	0	6380	876	31	1	1258	1	GEN1	2	17959282	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4760	17959282	225240091	2097	9809											
MSGN1	343930	broad.mit.edu	37	chr2	17998000	17998000	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggctgccctgtgagcacgGcggggccagcagtgggggca	20	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998000G>T	ENST00000281047.3	+	1	238	c.215G>T	c.(214-216)gGc>gTc	p.G72V		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	72					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTGAGCACGGCGGGGCCAGC	0.622													False	0	False	2:17998000	0	T	17998000	G	T	17998000	3	4	88	1	0	0	0	0	1	0	0	0	9936	1203	42	3	217	3	MSGN1	2	17998000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38718	17998000	225201373	2098	9810											
MSGN1	343930	broad.mit.edu	37	chr2	17998310	17998310	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtacaccatcaagtacatCggggaactcacagacctcct	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998310C>T	ENST00000281047.3	+	1	548	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	175	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCAAGTACATCGGGGAACTCA	0.597													False	0	True	2:17998310	0	T	17998310	C	T	17998310	2	4	88	1	0	0	0	0	0	0	0	1	9936	874	31	1		1	MSGN1	2	17998310	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	310	17998310	225201063	2099	9811											
MSGN1	343930	broad.mit.edu	37	chr2	17998323	17998323	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtacatcggggaactcacaGacctccttaaccgcggcaga	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998323G>T	ENST00000281047.3	+	1	561	c.538G>T	c.(538-540)Gac>Tac	p.D180Y		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	180					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGAACTCACAGACCTCCTTAA	0.582													False	0	False	2:17998323	0	T	17998323	G	T	17998323	3	4	88	1	0	0	0	0	1	0	0	0	9936	942	33	3	540	3	MSGN1	2	17998323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	17998323	225201050	2100	9812											
KCNS3	3790	broad.mit.edu	37	chr2	18112762	18112762	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagaagtttgacacactgCgatttggtcagctccggaag	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18112762C>T	ENST00000403915.1	+	3	938	c.487C>T	c.(487-489)Cga>Tga	p.R163*	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Nonsense_Mutation_p.R163*	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	163					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGACACACTGCGATTTGGTCA	0.498													False	0	False	2:18112762	0	T	18112762	C	T	18112762	4	4	88	1	0	0	0	0	0	1	0	0	8140	760	27	1	489	1	KCNS3	2	18112762	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114439	18112762	225086611	2101	9813											
KCNS3	3790	broad.mit.edu	37	chr2	18113720	18113720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgaggacatttgtaacaCcacctccttggagaattgca	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18113720C>T	ENST00000403915.1	+	3	1896	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.T482I	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	482					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTTGTAACACCACCTCCTTG	0.453													False	0	False	2:18113720	0	T	18113720	C	T	18113720	3	4	88	1	0	0	0	0	1	0	0	0	8140	507	18	2	1447	2	KCNS3	2	18113720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	958	18113720	225085653	2102	9814											
NT5C1B	93034	broad.mit.edu	37	chr2	18767552	18767552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttcctgcttctaggctcatCtatggatggagccttggtgg	13	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18767552C>A	ENST00000304081.4	-	3	326	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	NT5C1B_ENST00000600945.1_Missense_Mutation_p.D136Y|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D136Y|NT5C1B_ENST00000359846.2_Missense_Mutation_p.D136Y|NT5C1B_ENST00000460052.1_5'UTR	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CTAGGCTCATCTATGGATGGA	0.448													False	0	False	2:18767552	0	A	18767552	C	A	18767552	3	1	88	1	0	0	0	0	1	0	0	0	10754	913	32	3	1454	3	NT5C1B	2	18767552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	653832	18767552	224431821	2103	9815											
OSR1	130497	broad.mit.edu	37	chr2	19553022	19553022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaggacttggtgaagtggCggccacagaacttgcagacg	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:19553022C>T	ENST00000536433.1	-	1	3655	c.545G>A	c.(544-546)cGc>cAc	p.R182H	OSR1_ENST00000272223.2_Missense_Mutation_p.R182H			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	182					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GGTGAAGTGGCGGCCACAGAA	0.567													False	0	False	2:19553022	0	T	19553022	C	T	19553022	3	4	88	1	0	0	0	0	1	0	0	0	11361	768	27	1	263	1	OSR1	2	19553022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	785470	19553022	223646351	2104	9816											
WDR35	57539	broad.mit.edu	37	chr2	20133266	20133266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactctgacaaacatttgtgCtatttcctgtacaaacaaaa	4	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20133266C>T	ENST00000345530.3	-	23	2702	c.2587G>A	c.(2587-2589)Gca>Aca	p.A863T	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.A852T	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	863										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACATTTGTGCTATTTCCTGT	0.353													False	0	False	2:20133266	0	T	20133266	C	T	20133266	3	4	88	1	0	0	0	0	1	0	0	0	17373	797	28	2	982	2	WDR35	2	20133266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	580244	20133266	223066107	2105	9817											
SDC1	6382	broad.mit.edu	37	chr2	20405117	20405117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcacctgcacctgagccGgagaagttgtcagagtcatc	10	13	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20405117G>A	ENST00000381150.1	-	3	525	c.135C>T	c.(133-135)tcC>tcT	p.S45S	SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Silent_p.S45S|SDC1_ENST00000254351.4_Silent_p.S45S	NM_001006946.1	NP_001006947	P18827	SDC1_HUMAN	syndecan 1	45					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CACCTGAGCCGGAGAAGTTGT	0.532													False	0	False	2:20405117	0	A	20405117	G	A	20405117	2	1	88	1	0	0	0	0	0	0	0	1	14032	1103	39	1		1	SDC1	2	20405117	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	271851	20405117	222794256	2106	9818											
PUM2	23369	broad.mit.edu	37	chr2	20511261	20511261	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttaaaatcttacttaaaaTctttgcaatcggcatccatt	4	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20511261T>G	ENST00000361078.2	-	4	534	c.512A>C	c.(511-513)gAt>gCt	p.D171A	PUM2_ENST00000319801.5_Missense_Mutation_p.D171A|PUM2_ENST00000536417.1_Missense_Mutation_p.D115A|PUM2_ENST00000420234.1_Intron|PUM2_ENST00000338086.5_Missense_Mutation_p.D171A|PUM2_ENST00000403432.1_Missense_Mutation_p.D171A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	171	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACTTAAAATCTTTGCAATC	0.323													False	0	True	2:20511261	0	G	20511261	T	G	20511261	3	3	88	1	0	0	0	0	1	0	0	0	12905	1435	50	4	2750	4	PUM2	2	20511261	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106144	20511261	222688112	2107	9819											
GDF7	151449	broad.mit.edu	37	chr2	20871120	20871120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatcctctacatcgacGccgccaacaacgttgtctac	6	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20871120G>A	ENST00000272224.3	+	2	1864	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	430					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACATCGACGCCGCCAACAA	0.662													False	0	False	2:20871120	0	A	20871120	G	A	20871120	3	1	88	1	0	0	0	0	1	0	0	0	6363	1087	38	1	1294	1	GDF7	2	20871120	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	359859	20871120	222328253	2108	9820											
C2orf43	60526	broad.mit.edu	37	chr2	20939749	20939749	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accaaggcagaatggttctaAtatattcaatggtgaaaatt	8	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20939749A>C	ENST00000237822.3	-	5	764	c.685T>G	c.(685-687)Tta>Gta	p.L229V	C2orf43_ENST00000435420.2_Missense_Mutation_p.L181V|C2orf43_ENST00000541941.1_Missense_Mutation_p.L99V|C2orf43_ENST00000440866.2_Intron|C2orf43_ENST00000381090.3_Missense_Mutation_p.L229V|C2orf43_ENST00000403006.2_Missense_Mutation_p.L99V	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	229										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGGTTCTAATATATTCAAT	0.343													False	0	True	2:20939749	0	C	20939749	A	C	20939749	3	2	88	1	0	0	0	0	1	0	0	0	2183	98	4	4	304	4	C2orf43	2	20939749	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	68629	20939749	222259624	2109	9821											
APOB	338	broad.mit.edu	37	chr2	21224719	21224719	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgtgtggtagttttgAatggacaggtcaatcaatct	11	4	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21224719A>C	ENST00000233242.1	-	29	13702	c.13575T>G	c.(13573-13575)atT>atG	p.I4525M		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4525					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGTAGTTTTGAATGGACAGGT	0.378													False	0	False	2:21224719	0	C	21224719	A	C	21224719	3	2	88	1	0	0	0	0	1	0	0	0	787	242	9	4	120	4	APOB	2	21224719	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	284970	21224719	221974654	2110	9822											
APOB	338	broad.mit.edu	37	chr2	21226159	21226159	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttcctcatcagattcccgGaccctcaactcagttttgaa	6	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21226159G>A	ENST00000233242.1	-	29	12262	c.12135C>T	c.(12133-12135)gtC>gtT	p.V4045V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4045					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGATTCCCGGACCCTCAACT	0.403													False	0	False	2:21226159	0	A	21226159	G	A	21226159	2	1	88	1	0	0	0	0	0	0	0	1	787	1161	41	2		2	APOB	2	21226159	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1440	21226159	221973214	2111	9823											
APOB	338	broad.mit.edu	37	chr2	21229067	21229067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccagagggaatatatgCgttggagtgtggcttctcca	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21229067C>T	ENST00000233242.1	-	26	10800	c.10673G>A	c.(10672-10674)cGc>cAc	p.R3558H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3558			R -> C (in FDB; dbSNP:rs12713559).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R3558H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAATATATGCGTTGGAGTGT	0.463													False	0	False	2:21229067	0	T	21229067	C	T	21229067	3	4	88	1	0	0	0	0	1	0	0	0	787	768	27	1	3034	1	APOB	2	21229067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2908	21229067	221970306	2112	9824											
APOB	338	broad.mit.edu	37	chr2	21229127	21229127	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggttccagatatcatcaAttttggaagtgccctgcagc	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21229127A>C	ENST00000233242.1	-	26	10740	c.10613T>G	c.(10612-10614)aTt>aGt	p.I3538S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3538					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATATCATCAATTTTGGAAGT	0.433													False	0	True	2:21229127	0	C	21229127	A	C	21229127	3	2	88	1	0	0	0	0	1	0	0	0	787	101	4	4	3094	4	APOB	2	21229127	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60	21229127	221970246	2113	9825											
APOB	338	broad.mit.edu	37	chr2	21233266	21233266	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttggcatcatctaatgcAatttgtatatcattttctgt	5	6	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21233266A>G	ENST00000233242.1	-	26	6601	c.6474T>C	c.(6472-6474)atT>atC	p.I2158I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2158	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATCTAATGCAATTTGTATAT	0.299													False	0	False	2:21233266	0	G	21233266	A	G	21233266	2	3	88	1	0	0	0	0	0	0	0	1	787	126	5	4		4	APOB	2	21233266	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4139	21233266	221966107	2114	9826											
APOB	338	broad.mit.edu	37	chr2	21233848	21233848	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcactgactttgtgttcAagagctgcactgatgctttt	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21233848A>G	ENST00000233242.1	-	26	6019	c.5892T>C	c.(5890-5892)ctT>ctC	p.L1964L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1964					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTTGTGTTCAAGAGCTGCAC	0.458													False	0	False	2:21233848	0	G	21233848	A	G	21233848	2	3	88	1	0	0	0	0	0	0	0	1	787	117	5	4		4	APOB	2	21233848	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	582	21233848	221965525	2115	9827											
APOB	338	broad.mit.edu	37	chr2	21236120	21236120	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatggtctgtgctggtgttGccaccactgtaggaggcgga	15	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21236120G>A	ENST00000233242.1	-	25	4255	c.4128C>T	c.(4126-4128)ggC>ggT	p.G1376G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1376					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCTGGTGTTGCCACCACTGT	0.517													False	0	False	2:21236120	0	A	21236120	G	A	21236120	2	1	88	1	0	0	0	0	0	0	0	1	787	1306	46	2		2	APOB	2	21236120	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2272	21236120	221963253	2116	9828											
APOB	338	broad.mit.edu	37	chr2	21238318	21238318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatttggagaagcagtttGgcaggcgaccagtgggcgag	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21238318G>A	ENST00000233242.1	-	22	3559	c.3432C>T	c.(3430-3432)gcC>gcT	p.A1144A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1144					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAAGCAGTTTGGCAGGCGACC	0.488													False	0	True	2:21238318	0	A	21238318	G	A	21238318	2	1	88	1	0	0	0	0	0	0	0	1	787	1335	47	2		2	APOB	2	21238318	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2198	21238318	221961055	2117	9829											
APOB	338	broad.mit.edu	37	chr2	21245781	21245781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcttttagggcaacatgaGcctccagacccgactcgtgg	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21245781G>T	ENST00000233242.1	-	18	2865	c.2738C>A	c.(2737-2739)gCt>gAt	p.A913D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	913	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGCAACATGAGCCTCCAGACC	0.498													False	0	False	2:21245781	0	T	21245781	G	T	21245781	3	4	88	1	0	0	0	0	1	0	0	0	787	971	34	3	11001	3	APOB	2	21245781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7463	21245781	221953592	2118	9830											
APOB	338	broad.mit.edu	37	chr2	21250864	21250864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgtagagttgatagttccGagagaattttctgaagtcca	10	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21250864G>A	ENST00000233242.1	-	14	2030	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	APOB_ENST00000399256.4_Missense_Mutation_p.R635W	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	635	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R635W(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGATAGTTCCGAGAGAATTTT	0.368													False	0	True	2:21250864	0	A	21250864	G	A	21250864	3	1	88	1	0	0	0	0	1	0	0	0	787	1057	37	1	11852	1	APOB	2	21250864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5083	21250864	221948509	2119	9831											
ATAD2B	54454	broad.mit.edu	37	chr2	23977640	23977640	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtatttctttactttagaAgcacctataattgagacaaa	6	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:23977640A>C	ENST00000238789.5	-	26	4426	c.4083T>G	c.(4081-4083)gcT>gcG	p.A1361A	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1361							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACTTTAGAAGCACCTATAA	0.373													False	0	False	2:23977640	0	C	23977640	A	C	23977640	2	2	88	1	0	0	0	0	0	0	0	1	1076	59	3	4		4	ATAD2B	2	23977640	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2726776	23977640	219221733	2120	9832											
ATAD2B	54454	broad.mit.edu	37	chr2	24033200	24033200	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acctacctgtgcacatgattCctcaggtgttttggcactaa	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24033200C>A	ENST00000238789.5	-	18	2783	c.2440G>T	c.(2440-2442)Gaa>Taa	p.E814*	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	814							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACATGATTCCTCAGGTGTT	0.398													False	0	False	2:24033200	0	A	24033200	C	A	24033200	4	1	88	1	0	0	0	0	0	1	0	0	1076	864	30	3	1980	3	ATAD2B	2	24033200	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55560	24033200	219166173	2121	9833											
UBXN2A	165324	broad.mit.edu	37	chr2	24194191	24194191	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacctcttggtaataatcaAcaatcaaattgtgaatattt	4	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24194191A>G	ENST00000309033.4	+	3	331	c.87A>G	c.(85-87)caA>caG	p.Q29Q	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Silent_p.Q29Q|UBXN2A_ENST00000535786.1_Silent_p.Q29Q	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	29										endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						GTAATAATCAACAATCAAATT	0.333													False	0	False	2:24194191	0	G	24194191	A	G	24194191	2	3	88	1	0	0	0	0	0	0	0	1	16998	40	2	4		4	UBXN2A	2	24194191	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	160991	24194191	219005182	2122	9834											
MFSD2B	388931	broad.mit.edu	37	chr2	24236237	24236237	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaccagatagcctccagcgCcacagccttttacctgcagc	7	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24236237C>A	ENST00000338315.4	+	2	179	c.179C>A	c.(178-180)gCc>gAc	p.A60D	MFSD2B_ENST00000406420.3_Missense_Mutation_p.A60D			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	60					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCCTCCAGCGCCACAGCCTTT	0.557													False	0	False	2:24236237	0	A	24236237	C	A	24236237	3	1	88	1	0	0	0	0	1	0	0	0	9598	739	26	3	185	3	MFSD2B	2	24236237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42046	24236237	218963136	2123	9835											
MFSD2B	388931	broad.mit.edu	37	chr2	24239035	24239035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtttcagatccctgccGcccaggtgtcacttgttctg	10	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239035G>A	ENST00000338315.4	+	3	232	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	MFSD2B_ENST00000406420.3_Missense_Mutation_p.A78T			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	78					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GATCCCTGCCGCCCAGGTGTC	0.612													False	0	True	2:24239035	0	A	24239035	G	A	24239035	3	1	88	1	0	0	0	0	1	0	0	0	9598	1087	38	1	242	1	MFSD2B	2	24239035	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2798	24239035	218960338	2124	9836											
MFSD2B	388931	broad.mit.edu	37	chr2	24239805	24239805	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcgaggcctctggtacacGactttctactgcctgttcca	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239805G>A	ENST00000338315.4	+	4	438	c.438G>A	c.(436-438)acG>acA	p.T146T	MFSD2B_ENST00000406420.3_Silent_p.T146T			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	146					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TCTGGTACACGACTTTCTACT	0.647													False	0	False	2:24239805	0	A	24239805	G	A	24239805	2	1	88	1	0	0	0	0	0	0	0	1	9598	1045	37	1		1	MFSD2B	2	24239805	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	770	24239805	218959568	2125	9837											
C2orf44	80304	broad.mit.edu	37	chr2	24261218	24261218	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttggtctttcagtgttctCtaatcgaatttgctggatgt	9	6	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24261218C>A	ENST00000295148.4	-	2	1204	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	C2orf44_ENST00000406895.3_Nonsense_Mutation_p.E383*	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	383							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGTGTTCTCTAATCGAATT	0.373			T	ALK	NSCLC								False	0	False	2:24261218	0	A	24261218	C	A	24261218	4	1	88	1	0	0	0	0	0	1	0	0	2184	922	32	3	1030	3	C2orf44	2	24261218	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21413	24261218	218938155	2126	9838											
ITSN2	50618	broad.mit.edu	37	chr2	24471562	24471562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatattaactgtcctggtGcaaggctaagttgttcagaa	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24471562G>A	ENST00000355123.4	-	27	3667	c.3224C>T	c.(3223-3225)gCa>gTa	p.A1075V	ITSN2_ENST00000406921.3_Missense_Mutation_p.A1075V|ITSN2_ENST00000361999.3_Missense_Mutation_p.A1048V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1075	SH3 4.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTCCTGGTGCAAGGCTAAG	0.343													False	0	False	2:24471562	0	A	24471562	G	A	24471562	3	1	88	1	0	0	0	0	1	0	0	0	7977	1319	46	2	1976	2	ITSN2	2	24471562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210344	24471562	218727811	2127	9839											
ITSN2	50618	broad.mit.edu	37	chr2	24484038	24484038	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggctgattttttctgCcatgatgtatttacagttag	10	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24484038C>T	ENST00000355123.4	-	22	3062	c.2619G>A	c.(2617-2619)tgG>tgA	p.W873*	ITSN2_ENST00000406921.3_Nonsense_Mutation_p.W873*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.W846*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	873					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTTTTCTGCCATGATGTAT	0.368													False	0	False	2:24484038	0	T	24484038	C	T	24484038	4	4	88	1	0	0	0	0	0	1	0	0	7977	740	26	2	2601	2	ITSN2	2	24484038	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12476	24484038	218715335	2128	9840											
ITSN2	50618	broad.mit.edu	37	chr2	24533163	24533163	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctattcatacctactagatcCtaaatcaatcagagactgcg	5	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24533163C>A	ENST00000355123.4	-	7	1086	c.643G>T	c.(643-645)Gga>Tga	p.G215*	ITSN2_ENST00000406921.3_Nonsense_Mutation_p.G215*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.G215*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	215					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACTAGATCCTAAATCAATC	0.343													False	0	False	2:24533163	0	A	24533163	C	A	24533163	4	1	88	1	0	0	0	0	0	1	0	0	7977	690	24	3	4637	3	ITSN2	2	24533163	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49125	24533163	218666210	2129	9841											
ITSN2	50618	broad.mit.edu	37	chr2	24533562	24533563	+	Splice_Site	INS	-	-	T													ttgggcatgcttcccattccINStaaagtcaaaagaaaacatt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24533562_24533563insT	ENST00000355123.4	-	6	796		c.e6-1		ITSN2_ENST00000406921.3_Splice_Site|ITSN2_ENST00000361999.3_Splice_Site	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2						endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCCATTCCTAAAGTCAAAA	0.416													False	1	True	2:24533562	0	T	24533563	-	T	24533562	8	5	88	1	0	1	1	0	0	0	1	0	7977	695	24	0	4932	0	ITSN2	2	24533562	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	399	24533562	218665811	2130	9842											
NCOA1	8648	broad.mit.edu	37	chr2	24905930	24905930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaattaatgaatacgagCgtctacagcatactgcacgt	10	8	1	1	rs143048201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24905930C>T	ENST00000405141.1	+	9	1176	c.465C>T	c.(463-465)agC>agT	p.S155S	NCOA1_ENST00000407230.1_Silent_p.S4S|NCOA1_ENST00000406961.1_Silent_p.S155S|NCOA1_ENST00000288599.5_Silent_p.S155S|NCOA1_ENST00000538539.1_Silent_p.S155S|NCOA1_ENST00000395856.3_Silent_p.S155S|NCOA1_ENST00000348332.3_Silent_p.S155S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	155	PAS.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAATACGAGCGTCTACAGCA	0.368			T	PAX3	alveolar rhadomyosarcoma								False	0	False	2:24905930	0	T	24905930	C	T	24905930	2	4	88	1	0	0	0	0	0	0	0	1	10296	767	27	1		1	NCOA1	2	24905930	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372368	24905930	218293443	2131	9843											
NCOA1	8648	broad.mit.edu	37	chr2	24952420	24952420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccaccacaacaagcaacGccacctttgatcatggaaga	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24952420G>A	ENST00000405141.1	+	18	3648	c.2937G>A	c.(2935-2937)acG>acA	p.T979T	NCOA1_ENST00000407230.1_Silent_p.T828T|NCOA1_ENST00000406961.1_Silent_p.T979T|NCOA1_ENST00000288599.5_Silent_p.T979T|NCOA1_ENST00000538539.1_Silent_p.T979T|NCOA1_ENST00000395856.3_Silent_p.T979T|NCOA1_ENST00000348332.3_Silent_p.T979T			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	979	Interaction with CREBBP.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAAGCAACGCCACCTTTGA	0.428			T	PAX3	alveolar rhadomyosarcoma								False	0	False	2:24952420	0	A	24952420	G	A	24952420	2	1	88	1	0	0	0	0	0	0	0	1	10296	1074	38	1		1	NCOA1	2	24952420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46490	24952420	218246953	2132	9844											
NCOA1	8648	broad.mit.edu	37	chr2	24991146	24991146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacagtgaatctggtaggCggggacccttacctgaacca	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24991146C>T	ENST00000406961.1	+	23	4864	c.4212C>T	c.(4210-4212)ggC>ggT	p.G1404G	NCOA1_ENST00000407230.1_3'UTR|NCOA1_ENST00000288599.5_3'UTR|NCOA1_ENST00000538539.1_3'UTR|NCOA1_ENST00000395856.3_Silent_p.G1403G|NCOA1_ENST00000405141.1_3'UTR|NCOA1_ENST00000348332.3_Silent_p.G1404G			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1404								p.G1404G(1)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTGGTAGGCGGGGACCCTT	0.557			T	PAX3	alveolar rhadomyosarcoma								False	0	True	2:24991146	0	T	24991146	C	T	24991146	2	4	88	1	0	0	0	0	0	0	0	1	10296	755	27	1		1	NCOA1	2	24991146	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38726	24991146	218208227	2133	9845											
ADCY3	109	broad.mit.edu	37	chr2	25042948	25042948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcacaaagcggaagccGtactctcggaggatgacttg	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25042948G>A	ENST00000260600.5	-	21	4139	c.3288C>T	c.(3286-3288)taC>taT	p.Y1096Y	CENPO_ENST00000473706.1_3'UTR|CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Silent_p.Y683Y	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1096					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCGGAAGCCGTACTCTCGGA	0.612													False	0	False	2:25042948	0	A	25042948	G	A	25042948	2	1	88	1	0	0	0	0	0	0	0	1	295	1140	40	1		1	ADCY3	2	25042948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51802	25042948	218156425	2134	9846											
ADCY3	109	broad.mit.edu	37	chr2	25042959	25042959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggaagccgtactctcggaGgatgacttgggtttcttcta	13	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25042959G>T	ENST00000260600.5	-	21	4128	c.3277C>A	c.(3277-3279)Ctc>Atc	p.L1093I	CENPO_ENST00000473706.1_3'UTR|CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.L680I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1093					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TACTCTCGGAGGATGACTTGG	0.612													False	0	False	2:25042959	0	T	25042959	G	T	25042959	3	4	88	1	0	0	0	0	1	0	0	0	295	1000	35	3	161	3	ADCY3	2	25042959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	25042959	218156414	2135	9847											
ADCY3	109	broad.mit.edu	37	chr2	25046192	25046192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggaggcaaacatgacTccaatctcatcatacgtctg	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25046192T>C	ENST00000260600.5	-	17	3620	c.2769A>G	c.(2767-2769)ggA>ggG	p.G923G	ADCY3_ENST00000405392.1_Silent_p.G510G	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	923					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CAAACATGACTCCAATCTCAT	0.468													False	0	False	2:25046192	0	C	25046192	T	C	25046192	2	2	88	1	0	0	0	0	0	0	0	1	295	1538	54	4		4	ADCY3	2	25046192	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3233	25046192	218153181	2136	9848											
ADCY3	109	broad.mit.edu	37	chr2	25050811	25050811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcgtattcatcaaagaCgggacgccaggcatagaggt	14	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25050811C>T	ENST00000260600.5	-	13	3243	c.2392G>A	c.(2392-2394)Gtc>Atc	p.V798I	ADCY3_ENST00000405392.1_Missense_Mutation_p.V385I|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	798					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCATCAAAGACGGGACGCCAG	0.577											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	2:25050811	0	T	25050811	C	T	25050811	3	4	88	1	0	0	0	0	1	0	0	0	295	536	19	1	1078	1	ADCY3	2	25050811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4619	25050811	218148562	2137	9849											
ADCY3	109	broad.mit.edu	37	chr2	25057670	25057670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggcgcttacacttgggCggactctcgctcaagcaggg	16	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25057670C>T	ENST00000260600.5	-	9	2649	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	ADCY3_ENST00000405392.1_Missense_Mutation_p.A233T	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	600					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TACACTTGGGCGGACTCTCGC	0.637													False	0	True	2:25057670	0	T	25057670	C	T	25057670	3	4	88	1	0	0	0	0	1	0	0	0	295	768	27	1	1688	1	ADCY3	2	25057670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6859	25057670	218141703	2138	9850											
ADCY3	109	broad.mit.edu	37	chr2	25095498	25095498	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcgactggcgggcctccaGgaaggccttgcggtgcttgc	16	13	0	0	rs114534287	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25095498G>T	ENST00000260600.5	-	2	1617	c.766C>A	c.(766-768)Ctg>Atg	p.L256M		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	256					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CGGGCCTCCAGGAAGGCCTTG	0.632													False	0	False	2:25095498	0	T	25095498	G	T	25095498	3	4	88	1	0	0	0	0	1	0	0	0	295	991	35	3	2748	3	ADCY3	2	25095498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37828	25095498	218103875	2139	9851											
ADCY3	109	broad.mit.edu	37	chr2	25141381	25141381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagccgcgtgggcacgcgcgAagttcaggcccaggtaggag	17	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25141381A>G	ENST00000260600.5	-	1	1327	c.476T>C	c.(475-477)tTc>tCc	p.F159S		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	159					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGCACGCGCGAAGTTCAGGCC	0.622													False	0	True	2:25141381	0	G	25141381	A	G	25141381	3	3	88	1	0	0	0	0	1	0	0	0	295	246	9	4	3042	4	ADCY3	2	25141381	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45883	25141381	218057992	2140	9852											
ADCY3	109	broad.mit.edu	37	chr2	25141705	25141705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaagtcagccgcatgaagCgaggcaggcacaggcaggag	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25141705C>T	ENST00000260600.5	-	1	1003	c.152G>A	c.(151-153)cGc>cAc	p.R51H		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	51					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCGCATGAAGCGAGGCAGGCA	0.637													False	0	False	2:25141705	0	T	25141705	C	T	25141705	3	4	88	1	0	0	0	0	1	0	0	0	295	768	27	1	3366	1	ADCY3	2	25141705	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	324	25141705	218057668	2141	9853											
POMC	5443	broad.mit.edu	37	chr2	25384073	25384073	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccttgggcgggctgccccaGcggaagtgctccatcctgta	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25384073G>T	ENST00000405623.1	-	3	1136	c.681C>A	c.(679-681)cgC>cgA	p.R227R	POMC_ENST00000380794.1_Silent_p.R227R|POMC_ENST00000395826.2_Silent_p.R227R|POMC_ENST00000264708.3_Silent_p.R227R			P01189	COLI_HUMAN	proopiomelanocortin	227					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GGCTGCCCCAGCGGAAGTGCT	0.652													False	0	False	2:25384073	0	T	25384073	G	T	25384073	2	4	88	1	0	0	0	0	0	0	0	1	12311	958	34	3		3	POMC	2	25384073	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242368	25384073	217815300	2142	9854											
DNMT3A	1788	broad.mit.edu	37	chr2	25462038	25462038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccccagaagtagcgggccCtgtgtgcagctgacacttct	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25462038C>A	ENST00000264709.3	-	20	2706	c.2369G>T	c.(2368-2370)aGg>aTg	p.R790M	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R790M|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R567M|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R601M	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	790					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGCGGGCCCTGTGTGCAGC	0.562			"Mis, F, N, S"		AML								False	0	True	2:25462038	0	A	25462038	C	A	25462038	3	1	88	1	0	0	0	0	1	0	0	0	4706	681	24	3	385	3	DNMT3A	2	25462038	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77965	25462038	217737335	2143	9855											
DNMT3A	1788	broad.mit.edu	37	chr2	25467030	25467030	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagcactcacaaattcCtggtcgtggttattagcgaa	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25467030C>A	ENST00000264709.3	-	15	2182	c.1845G>T	c.(1843-1845)caG>caT	p.Q615H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.Q615H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.Q392H|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.Q426H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	615					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACAAATTCCTGGTCGTGGT	0.637			"Mis, F, N, S"		AML								False	0	False	2:25467030	0	A	25467030	C	A	25467030	3	1	88	1	0	0	0	0	1	0	0	0	4706	680	24	3	929	3	DNMT3A	2	25467030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4992	25467030	217732343	2144	9856											
DNMT3A	1788	broad.mit.edu	37	chr2	25469575	25469575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgttctgcacctccacgGccttggcagtgtcactctca	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25469575G>A	ENST00000264709.3	-	10	1530	c.1193C>T	c.(1192-1194)gCc>gTc	p.A398V	DNMT3A_ENST00000321117.5_Missense_Mutation_p.A398V|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A175V|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A209V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	398	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCCACGGCCTTGGCAGT	0.642			"Mis, F, N, S"		AML								False	0	False	2:25469575	0	A	25469575	G	A	25469575	3	1	88	1	0	0	0	0	1	0	0	0	4706	1203	42	2	1601	2	DNMT3A	2	25469575	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2545	25469575	217729798	2145	9857											
DTNB	1838	broad.mit.edu	37	chr2	25650421	25650421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccttcagcaacttcatcaGctcttccagctggaccatca	5	15	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25650421G>T	ENST00000406818.3	-	15	1786	c.1537C>A	c.(1537-1539)Ctg>Atg	p.L513M	AC104699.1_ENST00000352271.6_RNA|DTNB_ENST00000405222.1_Missense_Mutation_p.L483M|DTNB_ENST00000404103.3_Missense_Mutation_p.L513M|DTNB_ENST00000288642.8_Missense_Mutation_p.L513M|DTNB_ENST00000407661.3_Missense_Mutation_p.L513M|DTNB_ENST00000496972.2_Missense_Mutation_p.L456M|DTNB_ENST00000407038.3_Missense_Mutation_p.L483M|DTNB_ENST00000407186.1_Missense_Mutation_p.L483M|DTNB_ENST00000545439.1_Missense_Mutation_p.L309M	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	513						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTTCATCAGCTCTTCCAGC	0.562													False	0	False	2:25650421	0	T	25650421	G	T	25650421	3	4	88	1	0	0	0	0	1	0	0	0	4819	962	34	3	370	3	DTNB	2	25650421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180846	25650421	217548952	2146	9858											
DTNB	1838	broad.mit.edu	37	chr2	25861906	25861906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcatcgtttttgtacaaatCgtaatttgcaggctgttctg	9	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25861906C>T	ENST00000406818.3	-	3	374	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	DTNB_ENST00000405222.1_Missense_Mutation_p.R42Q|DTNB_ENST00000404103.3_Missense_Mutation_p.R42Q|DTNB_ENST00000288642.8_Missense_Mutation_p.R42Q|DTNB_ENST00000407661.3_Missense_Mutation_p.R42Q|DTNB_ENST00000496972.2_5'UTR|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000407038.3_Missense_Mutation_p.R42Q|DTNB_ENST00000407186.1_Missense_Mutation_p.R42Q|DTNB_ENST00000545439.1_5'UTR	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	42						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTACAAATCGTAATTTGCA	0.343													False	0	False	2:25861906	0	T	25861906	C	T	25861906	3	4	88	1	0	0	0	0	1	0	0	0	4819	884	31	1	1830	1	DTNB	2	25861906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211485	25861906	217337467	2147	9859											
ASXL2	55252	broad.mit.edu	37	chr2	25965233	25965233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcatgcctctatagcttgGccctatctgggtggggcttc	12	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25965233G>A	ENST00000435504.4	-	13	4266	c.3973C>T	c.(3973-3975)Cca>Tca	p.P1325S	ASXL2_ENST00000272341.4_Missense_Mutation_p.P808S|ASXL2_ENST00000336112.4_Missense_Mutation_p.P1297S|ASXL2_ENST00000404843.1_Missense_Mutation_p.P808S			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATAGCTTGGCCCTATCTGG	0.532													False	0	True	2:25965233	0	A	25965233	G	A	25965233	3	1	88	1	0	0	0	0	1	0	0	0	1071	1203	42	2	338	2	ASXL2	2	25965233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103327	25965233	217234140	2148	9860											
ASXL2	55252	broad.mit.edu	37	chr2	25973170	25973170	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tactggaactattctgataaGagaggcctctgacacaggca	10	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25973170G>A	ENST00000435504.4	-	12	1548	c.1255C>T	c.(1255-1257)Ctt>Ttt	p.L419F	ASXL2_ENST00000272341.4_Missense_Mutation_p.L159F|ASXL2_ENST00000336112.4_Missense_Mutation_p.L391F|ASXL2_ENST00000404843.1_Missense_Mutation_p.L159F			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCTGATAAGAGAGGCCTCT	0.438													False	0	True	2:25973170	0	A	25973170	G	A	25973170	3	1	88	1	0	0	0	0	1	0	0	0	1071	942	33	2	3060	2	ASXL2	2	25973170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7937	25973170	217226203	2149	9861											
KIF3C	3797	broad.mit.edu	37	chr2	26203981	26203981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccgccaccaccgccacccGaggatggtgtggctgcccct	11	19	0	0	rs150389136		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26203981G>A	ENST00000264712.3	-	1	1385	c.806C>T	c.(805-807)tCg>tTg	p.S269L	KIF3C_ENST00000405914.1_Missense_Mutation_p.S269L	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	269	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					accgccaccCGAGGATGGTGT	0.632													False	0	False	2:26203981	0	A	26203981	G	A	26203981	3	1	88	1	0	0	0	0	1	0	0	0	8352	1059	37	1	1607	1	KIF3C	2	26203981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230811	26203981	216995392	2150	9862											
RAB10	10890	broad.mit.edu	37	chr2	26350742	26350742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagggagcatggtattagGttttttgagactagtgcaaa	13	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26350742G>A	ENST00000264710.4	+	5	940	c.441G>A	c.(439-441)agG>agA	p.R147R	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	147					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGTATTAGGTTTTTTGAGA	0.348													False	0	True	2:26350742	0	A	26350742	G	A	26350742	2	1	88	1	0	0	0	0	0	0	0	1	12969	1252	44	2		2	RAB10	2	26350742	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146761	26350742	216848631	2151	9863											
HADHA	3030	broad.mit.edu	37	chr2	26437387	26437387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttccacttttttgtaaacCtgttgcctgacaaatggaat	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26437387C>A	ENST00000380649.3	-	9	972	c.843G>T	c.(841-843)caG>caT	p.Q281H	HADHA_ENST00000457468.2_Missense_Mutation_p.Q194H	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	281					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TTTTGTAAACCTGTTGCCTGA	0.363													False	0	False	2:26437387	0	A	26437387	C	A	26437387	3	1	88	1	0	0	0	0	1	0	0	0	6990	680	24	3	1496	3	HADHA	2	26437387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86645	26437387	216761986	2152	9864											
HADHB	3032	broad.mit.edu	37	chr2	26501526	26501526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgatgtgatcgtggcaGgtggtgttgagttgatgtcc	17	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501526G>A	ENST00000317799.5	+	8	591	c.487G>A	c.(487-489)Ggt>Agt	p.G163S	HADHB_ENST00000545822.1_Missense_Mutation_p.G141S|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Missense_Mutation_p.G148S	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	163					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCGTGGCAGGTGGTGTTGA	0.433													False	0	False	2:26501526	0	A	26501526	G	A	26501526	3	1	88	1	0	0	0	0	1	0	0	0	6991	1000	35	2	513	2	HADHB	2	26501526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64139	26501526	216697847	2153	9865											
HADHB	3032	broad.mit.edu	37	chr2	26501669	26501669	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaatttcctagcacctgaGgtaaggcttgtgtttgcagg	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501669G>T	ENST00000317799.5	+	8	734	c.630G>T	c.(628-630)gaG>gaT	p.E210D	HADHB_ENST00000545822.1_Splice_Site_p.E188D|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Splice_Site_p.E195D	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	210					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGCACCTGAGGTAAGGCTTG	0.418													False	0	False	2:26501669	0	T	26501669	G	T	26501669	5	4	88	1	0	0	0	0	0	0	1	0	6991	1014	35	3	656	3	HADHB	2	26501669	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143	26501669	216697704	2154	9866											
GPR113	165082	broad.mit.edu	37	chr2	26535831	26535831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcagggctctgcggtcaaGctgtattctggcctctgcca	11	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26535831G>T	ENST00000333478.6	-	7	1618	c.1036C>A	c.(1036-1038)Ctt>Att	p.L346I	GPR113_ENST00000541401.1_Missense_Mutation_p.L148I|GPR113_ENST00000311519.1_Missense_Mutation_p.L545I|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.L476I	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	545					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCGGTCAAGCTGTATTCTG	0.617													False	0	False	2:26535831	0	T	26535831	G	T	26535831	3	4	88	1	0	0	0	0	1	0	0	0	6676	971	34	3	1711	3	GPR113	2	26535831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34162	26535831	216663542	2155	9867											
OTOF	9381	broad.mit.edu	37	chr2	26698861	26698861	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtcggcggcaaagaggCtgcgggcctggtacatgtgc	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26698861C>A	ENST00000272371.2	-	24	3038	c.2912G>T	c.(2911-2913)aGc>aTc	p.S971I	OTOF_ENST00000402415.3_Missense_Mutation_p.S281I|OTOF_ENST00000403946.3_Missense_Mutation_p.S971I|OTOF_ENST00000339598.3_Missense_Mutation_p.S224I|OTOF_ENST00000338581.6_Missense_Mutation_p.S224I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	971	C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAAAGAGGCTGCGGGCCTG	0.652													False	0	False	2:26698861	0	A	26698861	C	A	26698861	3	1	88	1	0	0	0	0	1	0	0	0	11371	797	28	3	3358	3	OTOF	2	26698861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163030	26698861	216500512	2156	9868											
OTOF	9381	broad.mit.edu	37	chr2	26705280	26705280	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcccgctgctgacctttgtCtccgtcattagaaatcttgc	7	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26705280C>T	ENST00000272371.2	-	14	1699	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N	OTOF_ENST00000403946.3_Missense_Mutation_p.D525N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	525					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCTTTGTCTCCGTCATTA	0.572													False	0	False	2:26705280	0	T	26705280	C	T	26705280	3	4	88	1	0	0	0	0	1	0	0	0	11371	913	32	2	4881	2	OTOF	2	26705280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6419	26705280	216494093	2157	9869											
OTOF	9381	broad.mit.edu	37	chr2	26724644	26724644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaatccatgggccgcccaGcacttggctccatcttaatg	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26724644G>A	ENST00000272371.2	-	8	869	c.743C>T	c.(742-744)gCt>gTt	p.A248V	OTOF_ENST00000403946.3_Missense_Mutation_p.A248V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	248	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCGCCCAGCACTTGGCTC	0.552													False	0	False	2:26724644	0	A	26724644	G	A	26724644	3	1	88	1	0	0	0	0	1	0	0	0	11371	971	34	2	5735	2	OTOF	2	26724644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19364	26724644	216474729	2158	9870											
C2orf70	339778	broad.mit.edu	37	chr2	26798779	26798779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatcggcaggtaccagggCcacgtccccactgtggcctt	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26798779C>T	ENST00000409392.1	+	3	148	c.46C>T	c.(46-48)Cca>Tca	p.P16S	C2orf70_ENST00000329615.3_Silent_p.G28G			A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	0										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						GGTACCAGGGCCACGTCCCCA	0.612													False	0	True	2:26798779	0	T	26798779	C	T	26798779	3	4	88	1	0	0	0	0	1	0	0	0	2206	726	26	2	90	2	C2orf70	2	26798779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74135	26798779	216400594	2159	9871											
KCNK3	3777	broad.mit.edu	37	chr2	26916011	26916011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctacttcgccatcaccGtcatcaccaccatcggtaac	4	18	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26916011G>A	ENST00000302909.3	+	1	393	c.268G>A	c.(268-270)Gtc>Atc	p.V90I		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	90					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCCATCACCGTCATCACCAC	0.746													False	0	False	2:26916011	0	A	26916011	G	A	26916011	3	1	88	1	0	0	0	0	1	0	0	0	8117	1145	40	1	270	1	KCNK3	2	26916011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117232	26916011	216283362	2160	9872											
KCNK3	3777	broad.mit.edu	37	chr2	26950699	26950699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaaggggctgggcatgCggcgcgccgacgtgtccatg	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26950699C>T	ENST00000302909.3	+	2	573	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	150					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGGCATGCGGCGCGCCGA	0.652													False	0	False	2:26950699	0	T	26950699	C	T	26950699	3	4	88	1	0	0	0	0	1	0	0	0	8117	759	27	1	454	1	KCNK3	2	26950699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34688	26950699	216248674	2161	9873											
KCNK3	3777	broad.mit.edu	37	chr2	26950898	26950898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaccaggccctgcagaCgcagccgcagtacgtggcct	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26950898C>T	ENST00000302909.3	+	2	772	c.647C>T	c.(646-648)aCg>aTg	p.T216M		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	216					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCTGCAGACGCAGCCGCAG	0.607													False	0	False	2:26950898	0	T	26950898	C	T	26950898	3	4	88	1	0	0	0	0	1	0	0	0	8117	536	19	1	653	1	KCNK3	2	26950898	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199	26950898	216248475	2162	9874											
KCNK3	3777	broad.mit.edu	37	chr2	26951010	26951010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaccatgaacgccgaggaCgagaagcgcgacgccgagca	14	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26951010C>T	ENST00000302909.3	+	2	884	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	253					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGCCGAGGACGAGAAGCGCG	0.682													False	0	False	2:26951010	0	T	26951010	C	T	26951010	2	4	88	1	0	0	0	0	0	0	0	1	8117	535	19	1		1	KCNK3	2	26951010	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	26951010	216248363	2163	9875											
KCNK3	3777	broad.mit.edu	37	chr2	26951339	26951339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcgcgacgctgcctgtGcagcggggcgccacgctccg	15	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26951339G>A	ENST00000302909.3	+	2	1213	c.1088G>A	c.(1087-1089)tGc>tAc	p.C363Y		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	363					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGCCTGTGCAGCGGGGCG	0.716													False	0	False	2:26951339	0	A	26951339	G	A	26951339	3	1	88	1	0	0	0	0	1	0	0	0	8117	1319	46	2	1094	2	KCNK3	2	26951339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329	26951339	216248034	2164	9876											
DPYSL5	56896	broad.mit.edu	37	chr2	27154526	27154526	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctggaagctgaagccactCatcgtgttatcaccattgca	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27154526C>T	ENST00000288699.6	+	6	846	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	DPYSL5_ENST00000401478.1_Missense_Mutation_p.H230Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	230					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAAGCCACTCATCGTGTTAT	0.502													False	0	False	2:27154526	0	T	27154526	C	T	27154526	3	4	88	1	0	0	0	0	1	0	0	0	4780	826	29	2	706	2	DPYSL5	2	27154526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203187	27154526	216044847	2165	9877											
MAPRE3	22924	broad.mit.edu	37	chr2	27247044	27247044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtttaagaaattctttgaCgcaaactatgatggaaagga	10	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27247044C>T	ENST00000233121.2	+	4	546	c.348C>T	c.(346-348)gaC>gaT	p.D116D	MAPRE3_ENST00000402218.1_Silent_p.D116D|MAPRE3_ENST00000405074.3_Silent_p.D116D			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	116	CH.				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTCTTTGACGCAAACTATG	0.423													False	0	False	2:27247044	0	T	27247044	C	T	27247044	2	4	88	1	0	0	0	0	0	0	0	1	9363	535	19	1		1	MAPRE3	2	27247044	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92518	27247044	215952329	2166	9878											
TMEM214	54867	broad.mit.edu	37	chr2	27256991	27256991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttgagaatatcatgaagCggcagaataaggagcaggtc	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27256991C>T	ENST00000238788.9	+	2	270	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	TMEM214_ENST00000404032.3_Missense_Mutation_p.R70W	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	70						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TATCATGAAGCGGCAGAATAA	0.532													False	0	False	2:27256991	0	T	27256991	C	T	27256991	3	4	88	1	0	0	0	0	1	0	0	0	16219	759	27	1	214	1	TMEM214	2	27256991	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9947	27256991	215942382	2167	9879											
TMEM214	54867	broad.mit.edu	37	chr2	27258519	27258519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcatccgagggctgctggCgaaggcagcagggtctctgg	17	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27258519C>T	ENST00000238788.9	+	4	622	c.560C>T	c.(559-561)gCg>gTg	p.A187V	TMEM214_ENST00000404032.3_Intron	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	187						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGGCTGCTGGCGAAGGCAGCA	0.567													False	0	False	2:27258519	0	T	27258519	C	T	27258519	3	4	88	1	0	0	0	0	1	0	0	0	16219	768	27	1	574	1	TMEM214	2	27258519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1528	27258519	215940854	2168	9880											
TMEM214	54867	broad.mit.edu	37	chr2	27258869	27258869	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggttaccgcatctgtatCcaggccatcctgcaagacaa	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27258869C>T	ENST00000238788.9	+	5	731	c.669C>T	c.(667-669)atC>atT	p.I223I	TMEM214_ENST00000404032.3_Silent_p.I178I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	223						integral to membrane	protein binding	p.I223I(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCATCTGTATCCAGGCCATCC	0.512													False	0	False	2:27258869	0	T	27258869	C	T	27258869	2	4	88	1	0	0	0	0	0	0	0	1	16219	845	30	2		2	TMEM214	2	27258869	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	350	27258869	215940504	2169	9881											
TMEM214	54867	broad.mit.edu	37	chr2	27262629	27262629	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcccttactggccggttgCttcgatcatctggcttctta	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27262629C>A	ENST00000238788.9	+	14	1608	c.1546C>A	c.(1546-1548)Ctt>Att	p.L516I	TMEM214_ENST00000404032.3_Missense_Mutation_p.L471I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	516						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGCCGGTTGCTTCGATCATC	0.597													False	0	False	2:27262629	0	A	27262629	C	A	27262629	3	1	88	1	0	0	0	0	1	0	0	0	16219	797	28	3	1600	3	TMEM214	2	27262629	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3760	27262629	215936744	2170	9882											
TMEM214	54867	broad.mit.edu	37	chr2	27263359	27263359	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggagcactgccatgaggcAtgcaggtgagacctttgccc	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27263359A>G	ENST00000238788.9	+	16	2000	c.1938A>G	c.(1936-1938)gcA>gcG	p.A646A	TMEM214_ENST00000404032.3_Silent_p.A601A	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	646						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCCATGAGGCATGCAGGTGAG	0.637													False	0	False	2:27263359	0	G	27263359	A	G	27263359	2	3	88	1	0	0	0	0	0	0	0	1	16219	204	8	4		4	TMEM214	2	27263359	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	730	27263359	215936014	2171	9883											
AGBL5	60509	broad.mit.edu	37	chr2	27282095	27282095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctccgaaaacaccttgagtCgggcacgaagttttagcacc	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27282095C>T	ENST00000360131.4	+	11	2071	c.1912C>T	c.(1912-1914)Cgg>Tgg	p.R638W	AGBL5_ENST00000323064.8_Missense_Mutation_p.R638W	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	638					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTGAGTCGGGCACGAAG	0.532													False	0	True	2:27282095	0	T	27282095	C	T	27282095	3	4	88	1	0	0	0	0	1	0	0	0	378	875	31	1	1950	1	AGBL5	2	27282095	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18736	27282095	215917278	2172	9884											
ABHD1	84696	broad.mit.edu	37	chr2	27352776	27352776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagcccctcactgctgggCtctgccaacttgtggaacgg	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27352776C>T	ENST00000316470.4	+	6	886	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	258						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGCTGGGCTCTGCCAACT	0.562													False	0	True	2:27352776	0	T	27352776	C	T	27352776	3	4	88	1	0	0	0	0	1	0	0	0	73	797	28	2	794	2	ABHD1	2	27352776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70681	27352776	215846597	2173	9885											
TCF23	150921	broad.mit.edu	37	chr2	27372993	27372993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggccctctgtgcagagCgaggccagtcctgagaatgc	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27372993C>T	ENST00000296096.5	+	2	355	c.225C>T	c.(223-225)agC>agT	p.S75S		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	75					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCAGAGCGAGGCCAGTC	0.657													False	0	False	2:27372993	0	T	27372993	C	T	27372993	2	4	88	1	0	0	0	0	0	0	0	1	15774	767	27	1		1	TCF23	2	27372993	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20217	27372993	215826380	2174	9886											
CAD	790	broad.mit.edu	37	chr2	27447894	27447894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtgatacgtaatgaacGccccgatggtgtgttactga	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27447894G>A	ENST00000264705.4	+	11	1565	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	CAD_ENST00000403525.1_Missense_Mutation_p.R468H	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	468	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.R468H(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CGTAATGAACGCCCCGATGGT	0.552													False	0	True	2:27447894	0	A	27447894	G	A	27447894	3	1	88	1	0	0	0	0	1	0	0	0	2585	1087	38	1	1445	1	CAD	2	27447894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74901	27447894	215751479	2175	9887											
CAD	790	broad.mit.edu	37	chr2	27449826	27449826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgggagctgcatgaagagCgttggtgagactcatgccct	14	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27449826C>T	ENST00000264705.4	+	15	2445	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	CAD_ENST00000403525.1_Silent_p.S698S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	761	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCATGAAGAGCGTTGGTGAGA	0.527													False	0	False	2:27449826	0	T	27449826	C	T	27449826	2	4	88	1	0	0	0	0	0	0	0	1	2585	767	27	1		1	CAD	2	27449826	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1932	27449826	215749547	2176	9888											
CAD	790	broad.mit.edu	37	chr2	27454442	27454442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacagtgaaaccagtcagCgatatggtaagtagctcccc	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27454442C>T	ENST00000264705.4	+	16	2556	c.2394C>T	c.(2392-2394)agC>agT	p.S798S	CAD_ENST00000403525.1_Silent_p.S735S|CAD_ENST00000464159.1_3'UTR	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	798	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AACCAGTCAGCGATATGGTAA	0.532													False	0	False	2:27454442	0	T	27454442	C	T	27454442	2	4	88	1	0	0	0	0	0	0	0	1	2585	767	27	1		1	CAD	2	27454442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4616	27454442	215744931	2177	9889											
CAD	790	broad.mit.edu	37	chr2	27455960	27455960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccagagacagtcagcacCgactatgacatgtgtgatcg	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27455960C>T	ENST00000264705.4	+	19	3105	c.2943C>T	c.(2941-2943)acC>acT	p.T981T	CAD_ENST00000403525.1_Silent_p.T918T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	981	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CAGTCAGCACCGACTATGACA	0.498													False	0	False	2:27455960	0	T	27455960	C	T	27455960	2	4	88	1	0	0	0	0	0	0	0	1	2585	639	23	1		1	CAD	2	27455960	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1518	27455960	215743413	2178	9890											
CAD	790	broad.mit.edu	37	chr2	27456554	27456554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcgcccctcctatgtgCtgagcggtgctgctatgaat	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27456554C>A	ENST00000264705.4	+	21	3439	c.3277C>A	c.(3277-3279)Ctg>Atg	p.L1093M	CAD_ENST00000403525.1_Missense_Mutation_p.L1030M	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1093	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTCCTATGTGCTGAGCGGTGC	0.592													False	0	False	2:27456554	0	A	27456554	C	A	27456554	3	1	88	1	0	0	0	0	1	0	0	0	2585	796	28	3	3359	3	CAD	2	27456554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	594	27456554	215742819	2179	9891											
CAD	790	broad.mit.edu	37	chr2	27460626	27460626	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgactttgcgctattccTtggggcctcgtctgaaaatg	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27460626T>G	ENST00000264705.4	+	29	4766	c.4604T>G	c.(4603-4605)cTt>cGt	p.L1535R	CAD_ENST00000403525.1_Missense_Mutation_p.L1472R	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1535	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCGCTATTCCTTGGGGCCTCG	0.617													False	0	False	2:27460626	0	G	27460626	T	G	27460626	3	3	88	1	0	0	0	0	1	0	0	0	2585	1609	56	4	4718	4	CAD	2	27460626	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4072	27460626	215738747	2180	9892											
CAD	790	broad.mit.edu	37	chr2	27464813	27464813	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccatgttctatgaagtgaGcacacggaccagcagctcct	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27464813G>C	ENST00000264705.4	+	39	6080	c.5918G>C	c.(5917-5919)aGc>aCc	p.S1973T	CAD_ENST00000403525.1_Missense_Mutation_p.S1910T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1973	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TATGAAGTGAGCACACGGACC	0.592													False	0	False	2:27464813	0	C	27464813	G	C	27464813	3	2	88	1	0	0	0	0	1	0	0	0	2585	971	34	5	6072	5	CAD	2	27464813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4187	27464813	215734560	2181	9893											
CAD	790	broad.mit.edu	37	chr2	27464907	27464907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcgtccgtccagaagggCgaatccctggctgactccgt	11	14	0	2	rs61737366		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27464907C>T	ENST00000264705.4	+	39	6174	c.6012C>T	c.(6010-6012)ggC>ggT	p.G2004G	CAD_ENST00000403525.1_Silent_p.G1941G	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2004	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCCAGAAGGGCGAATCCCTGG	0.652													False	0	True	2:27464907	0	T	27464907	C	T	27464907	2	4	88	1	0	0	0	0	0	0	0	1	2585	755	27	1		1	CAD	2	27464907	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94	27464907	215734466	2182	9894											
SLC30A3	7781	broad.mit.edu	37	chr2	27479733	27479733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatggagaagaggaaggtgCtgatggggtcggctgccttg	19	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27479733C>A	ENST00000233535.4	-	6	1158	c.806G>T	c.(805-807)aGc>aTc	p.S269I	SLC30A3_ENST00000447008.2_Missense_Mutation_p.S264I	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	269					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGAAGGTGCTGATGGGGTC	0.562													False	0	False	2:27479733	0	A	27479733	C	A	27479733	3	1	88	1	0	0	0	0	1	0	0	0	14636	797	28	3	372	3	SLC30A3	2	27479733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14826	27479733	215719640	2183	9895											
SLC30A3	7781	broad.mit.edu	37	chr2	27480182	27480182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcccctagacccgtggCtgtgggggggcccagcctgg	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27480182C>T	ENST00000233535.4	-	5	969	c.617G>A	c.(616-618)aGc>aAc	p.S206N	SLC30A3_ENST00000447008.2_Missense_Mutation_p.S201N	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	206					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACCCGTGGCTGTGGGGGGG	0.662													False	0	False	2:27480182	0	T	27480182	C	T	27480182	3	4	88	1	0	0	0	0	1	0	0	0	14636	797	28	2	565	2	SLC30A3	2	27480182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	449	27480182	215719191	2184	9896											
DNAJC5G	285126	broad.mit.edu	37	chr2	27500629	27500629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccttccccagccattccGcattgcttccccaccctcct	3	22	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27500629G>A	ENST00000296097.3	+	4	539	c.121G>A	c.(121-123)Gca>Aca	p.A41T	DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.A41T|DNAJC5G_ENST00000404433.1_Intron	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	41	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCATTCCGCATTGCTTCC	0.498													False	0	False	2:27500629	0	A	27500629	G	A	27500629	3	1	88	1	0	0	0	0	1	0	0	0	4682	1087	38	1	127	1	DNAJC5G	2	27500629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20447	27500629	215698744	2185	9897											
TRIM54	57159	broad.mit.edu	37	chr2	27528685	27528685	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaatggcgctgtatctccaGgtgggctctaggggagggtg	17	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27528685G>T	ENST00000296098.4	+	6	1239	c.969G>T	c.(967-969)caG>caT	p.Q323H	TRIM54_ENST00000380075.2_Splice_Site_p.Q281H	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	281	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTATCTCCAGGTGGGCTCTA	0.607													False	0	False	2:27528685	0	T	27528685	G	T	27528685	5	4	88	1	0	0	0	0	0	0	1	0	16611	1014	35	3	991	3	TRIM54	2	27528685	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28056	27528685	215670688	2186	9898											
GTF3C2	2976	broad.mit.edu	37	chr2	27551397	27551397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatatctggtaatatagCagcaatgagctccccggata	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27551397C>T	ENST00000359541.2	-	16	2623	c.2194G>A	c.(2194-2196)Gct>Act	p.A732T	GTF3C2_ENST00000264720.3_Missense_Mutation_p.A732T			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	732						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTAATATAGCAGCAATGAGC	0.423													False	0	False	2:27551397	0	T	27551397	C	T	27551397	3	4	88	1	0	0	0	0	1	0	0	0	6920	710	25	2	557	2	GTF3C2	2	27551397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22712	27551397	215647976	2187	9899											
GTF3C2	2976	broad.mit.edu	37	chr2	27565074	27565074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgttgagagctcttcaGccagttcctgaagatacaga	12	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27565074G>A	ENST00000359541.2	-	4	1025	c.596C>T	c.(595-597)gCt>gTt	p.A199V	AC109828.1_ENST00000590383.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.A199V			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	199						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCTCTTCAGCCAGTTCCTG	0.562													False	0	False	2:27565074	0	A	27565074	G	A	27565074	3	1	88	1	0	0	0	0	1	0	0	0	6920	971	34	2	2203	2	GTF3C2	2	27565074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13677	27565074	215634299	2188	9900											
SNX17	9784	broad.mit.edu	37	chr2	27598482	27598482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtgagcgcgggcaacaGtgagctcagcctgcagctcc	16	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27598482G>A	ENST00000233575.2	+	10	1106	c.884G>A	c.(883-885)aGt>aAt	p.S295N	SNX17_ENST00000537606.1_Missense_Mutation_p.S270N|SNX17_ENST00000543024.1_Missense_Mutation_p.S81N|SNX17_ENST00000542478.1_Missense_Mutation_p.S81N	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	295					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGGCAACAGTGAGCTCAGC	0.632													False	0	False	2:27598482	0	A	27598482	G	A	27598482	3	1	88	1	0	0	0	0	1	0	0	0	14968	1029	36	2	922	2	SNX17	2	27598482	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33408	27598482	215600891	2189	9901											
PPM1G	5496	broad.mit.edu	37	chr2	27605361	27605361	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accagatgccatcacaggcaAtgaccatgaattcatggtcg	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27605361A>T	ENST00000344034.4	-	8	1577	c.1313T>A	c.(1312-1314)aTt>aAt	p.I438N	PPM1G_ENST00000350803.4_Missense_Mutation_p.I438N	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	438					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCACAGGCAATGACCATGAA	0.478													False	0	False	2:27605361	0	T	27605361	A	T	27605361	3	4	88	1	0	0	0	0	1	0	0	0	12414	101	4	5	339	5	PPM1G	2	27605361	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6879	27605361	215594012	2190	9902											
NRBP1	29959	broad.mit.edu	37	chr2	27659651	27659651	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actatcaacaatcatgtgaaGacttgtcgagaagagcagaa	9	7	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27659651G>A	ENST00000233557.3	+	9	1525	c.693G>A	c.(691-693)aaG>aaA	p.K231K	NRBP1_ENST00000379852.3_Silent_p.K231K|NRBP1_ENST00000379863.3_Silent_p.K239K			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	231	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCATGTGAAGACTTGTCGAG	0.498													False	0	False	2:27659651	0	A	27659651	G	A	27659651	2	1	88	1	0	0	0	0	0	0	0	1	10710	933	33	2		2	NRBP1	2	27659651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54290	27659651	215539722	2191	9903											
NRBP1	29959	broad.mit.edu	37	chr2	27664444	27664444	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctttgtcagatgagaatatCcccgagttggcggctgagct	12	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27664444C>T	ENST00000233557.3	+	18	2290	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	NRBP1_ENST00000379852.3_Silent_p.I486I|NRBP1_ENST00000379863.3_Silent_p.I494I			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	486					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATGAGAATATCCCCGAGTTGG	0.572													False	0	True	2:27664444	0	T	27664444	C	T	27664444	2	4	88	1	0	0	0	0	0	0	0	1	10710	845	30	2		2	NRBP1	2	27664444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4793	27664444	215534929	2192	9904											
IFT172	26160	broad.mit.edu	37	chr2	27670790	27670790	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttttgtagatattgaagttCtagaggtagagggaagaagg	14	2	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27670790C>A	ENST00000260570.3	-	41	4532		c.e41-1			NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)						cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TATTGAAGTTCTAGAGGTAGA	0.493													False	0	False	2:27670790	0	A	27670790	C	A	27670790	5	1	88	1	0	0	0	0	0	0	1	0	7607	927	32	3	853	3	IFT172	2	27670790	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6346	27670790	215528583	2193	9905											
IFT172	26160	broad.mit.edu	37	chr2	27677000	27677000	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcctcagccacacgctgaGctgcctcccaatcctggtta	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27677000G>T	ENST00000260570.3	-	33	3663	c.3560C>A	c.(3559-3561)gCt>gAt	p.A1187D		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1187					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CACACGCTGAGCTGCCTCCCA	0.592													False	0	False	2:27677000	0	T	27677000	G	T	27677000	3	4	88	1	0	0	0	0	1	0	0	0	7607	971	34	3	1753	3	IFT172	2	27677000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6210	27677000	215522373	2194	9906											
IFT172	26160	broad.mit.edu	37	chr2	27680845	27680845	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtactgtcacatatagccTggggaaggagatacatctgg	12	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27680845T>C	ENST00000260570.3	-	28	3079		c.e28-2			NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)						cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACATATAGCCTGGGGAAGGAG	0.542													False	0	True	2:27680845	0	C	27680845	T	C	27680845	5	2	88	1	0	0	0	0	0	0	1	0	7607	1594	55	4	2359	4	IFT172	2	27680845	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3845	27680845	215518528	2195	9907											
IFT172	26160	broad.mit.edu	37	chr2	27684682	27684682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtagctcctggtacatgcCcatggcctcctccacagcat	9	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27684682C>T	ENST00000260570.3	-	21	2240	c.2137G>A	c.(2137-2139)Ggc>Agc	p.G713S		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	713					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGGTACATGCCCATGGCCTCC	0.517													False	0	True	2:27684682	0	T	27684682	C	T	27684682	3	4	88	1	0	0	0	0	1	0	0	0	7607	623	22	2	3224	2	IFT172	2	27684682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3837	27684682	215514691	2196	9908											
GCKR	2646	broad.mit.edu	37	chr2	27728602	27728602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccgagggtctcagcggCtcctcccggatgaaaggtgg	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27728602C>T	ENST00000264717.2	+	10	831	c.768C>T	c.(766-768)ggC>ggT	p.G256G	GCKR_ENST00000424318.2_Silent_p.G66G	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	256	SIS 1.		G -> S (in dbSNP:rs8179212).		carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GTCTCAGCGGCTCCTCCCGGA	0.542													False	0	False	2:27728602	0	T	27728602	C	T	27728602	2	4	88	1	0	0	0	0	0	0	0	1	6337	784	28	2		2	GCKR	2	27728602	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43920	27728602	215470771	2197	9909											
GCKR	2646	broad.mit.edu	37	chr2	27729396	27729396	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcgagctcatcaggtgacCtacagccaaagccccaagat	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27729396C>A	ENST00000264717.2	+	11	981	c.918C>A	c.(916-918)acC>acA	p.T306T	GCKR_ENST00000424318.2_Silent_p.T116T	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	306					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ATCAGGTGACCTACAGCCAAA	0.532													False	0	False	2:27729396	0	A	27729396	C	A	27729396	2	1	88	1	0	0	0	0	0	0	0	1	6337	668	24	3		3	GCKR	2	27729396	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	794	27729396	215469977	2198	9910											
GCKR	2646	broad.mit.edu	37	chr2	27730853	27730853	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccttctcctagacaacctcaCggaggtgcagactatagtgg	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27730853C>G	ENST00000264717.2	+	15	1313	c.1250C>G	c.(1249-1251)aCg>aGg	p.T417R	GCKR_ENST00000424318.2_Missense_Mutation_p.T227R	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	417	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GACAACCTCACGGAGGTGCAG	0.587													False	0	False	2:27730853	0	G	27730853	C	G	27730853	3	3	88	1	0	0	0	0	1	0	0	0	6337	536	19	5	1308	5	GCKR	2	27730853	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1457	27730853	215468520	2199	9911											
C2orf16	84226	broad.mit.edu	37	chr2	27801528	27801528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaacagagcctcctaaaGttatggaaactgaggatttg	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27801528G>A	ENST00000408964.2	+	1	2140	c.2089G>A	c.(2089-2091)Gtt>Att	p.V697I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	697										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCCTCCTAAAGTTATGGAAAC	0.408													False	0	True	2:27801528	0	A	27801528	G	A	27801528	3	1	88	1	0	0	0	0	1	0	0	0	2173	1029	36	2	2091	2	C2orf16	2	27801528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70675	27801528	215397845	2200	9912											
C2orf16	84226	broad.mit.edu	37	chr2	27801881	27801881	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggaaaacccatgtcctgaGattctaggagtggatgtaat	12	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27801881G>T	ENST00000408964.2	+	1	2493	c.2442G>T	c.(2440-2442)gaG>gaT	p.E814D		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	814										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CATGTCCTGAGATTCTAGGAG	0.398													False	0	False	2:27801881	0	T	27801881	G	T	27801881	3	4	88	1	0	0	0	0	1	0	0	0	2173	933	33	3	2444	3	C2orf16	2	27801881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	27801881	215397492	2201	9913											
C2orf16	84226	broad.mit.edu	37	chr2	27802900	27802900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacagctccaccttgtacGcactcctgaaggccatggtg	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27802900G>A	ENST00000408964.2	+	1	3512	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1154										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CACCTTGTACGCACTCCTGAA	0.468													False	0	False	2:27802900	0	A	27802900	G	A	27802900	3	1	88	1	0	0	0	0	1	0	0	0	2173	1087	38	1	3463	1	C2orf16	2	27802900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1019	27802900	215396473	2202	9914											
C2orf16	84226	broad.mit.edu	37	chr2	27803149	27803149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacatcaggcgaggacaacGcagcaggcctgacttagtag	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27803149G>A	ENST00000408964.2	+	1	3761	c.3710G>A	c.(3709-3711)cGc>cAc	p.R1237H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1237										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CGAGGACAACGCAGCAGGCCT	0.478													False	0	False	2:27803149	0	A	27803149	G	A	27803149	3	1	88	1	0	0	0	0	1	0	0	0	2173	1087	38	1	3712	1	C2orf16	2	27803149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249	27803149	215396224	2203	9915											
C2orf16	84226	broad.mit.edu	37	chr2	27803687	27803687	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcagctgacaagctaacGccagcaggctcaaccattaa	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27803687G>A	ENST00000408964.2	+	1	4299	c.4248G>A	c.(4246-4248)acG>acA	p.T1416T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1416										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACAAGCTAACGCCAGCAGGCT	0.463													False	0	False	2:27803687	0	A	27803687	G	A	27803687	2	1	88	1	0	0	0	0	0	0	0	1	2173	1074	38	1		1	C2orf16	2	27803687	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	538	27803687	215395686	2204	9916											
C2orf16	84226	broad.mit.edu	37	chr2	27804403	27804403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctcagagagaagccatcGcagtccctcagagagaagcc	10	14	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27804403G>A	ENST00000408964.2	+	1	5015	c.4964G>A	c.(4963-4965)cGc>cAc	p.R1655H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1655	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAAGCCATCGCAGTCCCTCA	0.572													False	0	False	2:27804403	0	A	27804403	G	A	27804403	3	1	88	1	0	0	0	0	1	0	0	0	2173	1087	38	1	4966	1	C2orf16	2	27804403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	716	27804403	215394970	2205	9917											
GPN1	11321	broad.mit.edu	37	chr2	27858050	27858050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctatgtaatggacacatCgagaagtaccaacccagtga	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27858050C>T	ENST00000264718.3	+	7	536	c.515C>T	c.(514-516)tCg>tTg	p.S172L	GPN1_ENST00000515877.1_Missense_Mutation_p.S79L|GPN1_ENST00000503738.1_Missense_Mutation_p.S63L|GPN1_ENST00000407583.3_Missense_Mutation_p.S146L|GPN1_ENST00000610189.1_Missense_Mutation_p.S158L|GPN1_ENST00000424214.1_Missense_Mutation_p.S79L|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Missense_Mutation_p.S63L			Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	158						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						ATGGACACATCGAGAAGTACC	0.448													False	0	False	2:27858050	0	T	27858050	C	T	27858050	3	4	88	1	0	0	0	0	1	0	0	0	6663	893	31	1	624	1	GPN1	2	27858050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53647	27858050	215341323	2206	9918											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27886811	27886811	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attctctctcagtcagagacCctggcgtcgcaagacctcag	9	14	4	2	rs139689483	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27886811C>A	ENST00000326019.6	+	1	474	c.192C>A	c.(190-192)acC>acA	p.T64T		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	64						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGTCAGAGACCCTGGCGTCGC	0.592													False	0	True	2:27886811	0	A	27886811	C	A	27886811	2	1	88	1	0	0	0	0	0	0	0	1	14733	610	22	3		3	SLC4A1AP	2	27886811	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28761	27886811	215312562	2207	9919											
RBKS	64080	broad.mit.edu	37	chr2	28050516	28050516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcaccacacatccttcaGcccctaaggtaatgattacc	5	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28050516G>A	ENST00000302188.3	-	7	1465	c.713C>T	c.(712-714)gCt>gTt	p.A238V	RBKS_ENST00000444339.2_Missense_Mutation_p.A238V	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	238					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					ACATCCTTCAGCCCCTAAGGT	0.498													False	0	True	2:28050516	0	A	28050516	G	A	28050516	3	1	88	1	0	0	0	0	1	0	0	0	13187	971	34	2	263	2	RBKS	2	28050516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163705	28050516	215148857	2208	9920											
RBKS	64080	broad.mit.edu	37	chr2	28081321	28081321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaccttacacaccatggaCgtcattgctccaagccgagc	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28081321C>T	ENST00000302188.3	-	2	959	c.207G>A	c.(205-207)acG>acA	p.T69T	RBKS_ENST00000444339.2_Silent_p.T69T	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	69					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					ACACCATGGACGTCATTGCTC	0.418													False	0	False	2:28081321	0	T	28081321	C	T	28081321	2	4	88	1	0	0	0	0	0	0	0	1	13187	523	19	1		1	RBKS	2	28081321	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30805	28081321	215118052	2209	9921											
FOSL2	2355	broad.mit.edu	37	chr2	28634796	28634796	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccctctctttccgtggcaGgagacagaggagctggagga	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28634796G>T	ENST00000379619.1	+	4	446	c.438G>T	c.(436-438)caG>caT	p.Q146H	FOSL2_ENST00000545753.1_Splice_Site|FOSL2_ENST00000264716.4_Splice_Site			P15408	FOSL2_HUMAN	FOS-like antigen 2	154					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TTCCGTGGCAGGAGACAGAGG	0.542													False	0	False	2:28634796	0	T	28634796	G	T	28634796	3	4	88	1	0	0	0	0	1	0	0	0	6028	1014	35	3	476	3	FOSL2	2	28634796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	553475	28634796	214564577	2210	9922											
FOSL2	2355	broad.mit.edu	37	chr2	28635000	28635000	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcgctgtagtggtgaaAcaggagcccctggaagagga	18	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28635000A>T	ENST00000264716.4	+	4	1529	c.666A>T	c.(664-666)aaA>aaT	p.K222N	FOSL2_ENST00000545753.1_Missense_Mutation_p.K183N|FOSL2_ENST00000379619.1_Missense_Mutation_p.K214N	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	222					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TAGTGGTGAAACAGGAGCCCC	0.672													False	0	True	2:28635000	0	T	28635000	A	T	28635000	3	4	88	1	0	0	0	0	1	0	0	0	6028	40	2	5	680	5	FOSL2	2	28635000	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	204	28635000	214564373	2211	9923											
PLB1	151056	broad.mit.edu	37	chr2	28748771	28748771	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcctgcttctacctgcaGgactgaaaggccacagcagg	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28748771G>A	ENST00000422425.2	+	6	328		c.e6-1		PLB1_ENST00000327757.5_Splice_Site	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1						lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTACCTGCAGGACTGAAAGG	0.532													False	0	False	2:28748771	0	A	28748771	G	A	28748771	5	1	88	1	0	0	0	0	0	0	1	0	12093	1014	35	2	306	2	PLB1	2	28748771	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113771	28748771	214450602	2212	9924											
PPP1CB	5500	broad.mit.edu	37	chr2	29004680	29004680	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctatagcagccattgtGgatgagaagatcttctgttg	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29004680G>T	ENST00000395366.2	+	4	764	c.492G>T	c.(490-492)gtG>gtT	p.V164V	PPP1CB_ENST00000358506.2_Silent_p.V164V|PPP1CB_ENST00000296122.6_Silent_p.V164V	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	164					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAGCCATTGTGGATGAGAAGA	0.318													False	0	False	2:29004680	0	T	29004680	G	T	29004680	2	4	88	1	0	0	0	0	0	0	0	1	12424	1335	47	3		3	PPP1CB	2	29004680	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	255909	29004680	214194693	2213	9925											
TRMT61B	55006	broad.mit.edu	37	chr2	29092543	29092543	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttaccgaaggaactcctcaGtatctggccggggaacttcc	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29092543G>T	ENST00000306108.5	-	1	624	c.601C>A	c.(601-603)Ctg>Atg	p.L201M		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	201							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GAACTCCTCAGTATCTGGCCG	0.468													False	0	False	2:29092543	0	T	29092543	G	T	29092543	3	4	88	1	0	0	0	0	1	0	0	0	16653	1020	36	3	860	3	TRMT61B	2	29092543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87863	29092543	214106830	2214	9926											
TRMT61B	55006	broad.mit.edu	37	chr2	29092664	29092664	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgtttctccctccccagtCtcagctaaaatcagttcccc	4	16	3	0	rs140115429		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29092664C>A	ENST00000306108.5	-	1	503	c.480G>T	c.(478-480)gaG>gaT	p.E160D		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	160							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CCTCCCCAGTCTCAGCTAAAA	0.498													False	0	False	2:29092664	0	A	29092664	C	A	29092664	3	1	88	1	0	0	0	0	1	0	0	0	16653	912	32	3	981	3	TRMT61B	2	29092664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121	29092664	214106709	2215	9927											
TRMT61B	55006	broad.mit.edu	37	chr2	29093040	29093040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgcaacacagtgaccgaGctccctcgaagggctcctgc	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29093040G>T	ENST00000306108.5	-	1	127	c.104C>A	c.(103-105)gCt>gAt	p.A35D		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	35							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CAGTGACCGAGCTCCCTCGAA	0.622													False	0	False	2:29093040	0	T	29093040	G	T	29093040	3	4	88	1	0	0	0	0	1	0	0	0	16653	971	34	3	1357	3	TRMT61B	2	29093040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	376	29093040	214106333	2216	9928											
WDR43	23160	broad.mit.edu	37	chr2	29135533	29135533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgttgctttcagctggtcGaacaatcaaactatgggttt	10	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29135533G>A	ENST00000407426.3	+	4	619	c.563G>A	c.(562-564)cGa>cAa	p.R188Q		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	188						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TCAGCTGGTCGAACAATCAAA	0.378													False	0	False	2:29135533	0	A	29135533	G	A	29135533	3	1	88	1	0	0	0	0	1	0	0	0	17379	1058	37	1	577	1	WDR43	2	29135533	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42493	29135533	214063840	2217	9929											
WDR43	23160	broad.mit.edu	37	chr2	29152515	29152515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaggaagacctccagaCgaatagctttccagttcttc	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29152515C>T	ENST00000407426.3	+	11	1432	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	459						nucleolus		p.T502M(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GACCTCCAGACGAATAGCTTT	0.353													False	0	False	2:29152515	0	T	29152515	C	T	29152515	3	4	88	1	0	0	0	0	1	0	0	0	17379	536	19	1	1418	1	WDR43	2	29152515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16982	29152515	214046858	2218	9930											
FAM179A	165186	broad.mit.edu	37	chr2	29258407	29258407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatggtggagcagctacGggagctgacacggctgctgg	19	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29258407G>A	ENST00000379558.4	+	17	2654	c.2303G>A	c.(2302-2304)cGg>cAg	p.R768Q	FAM179A_ENST00000403861.2_Missense_Mutation_p.R713Q|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	768							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGCAGCTACGGGAGCTGACA	0.662													False	0	True	2:29258407	0	A	29258407	G	A	29258407	3	1	88	1	0	0	0	0	1	0	0	0	5541	1116	39	1	2365	1	FAM179A	2	29258407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105892	29258407	213940966	2219	9931											
FAM179A	165186	broad.mit.edu	37	chr2	29259479	29259479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgggcgctggagtccttcGccaagatgatccccctcctc	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29259479G>A	ENST00000379558.4	+	18	2842	c.2491G>A	c.(2491-2493)Gcc>Acc	p.A831T	FAM179A_ENST00000403861.2_Missense_Mutation_p.A776T|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	831							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGTCCTTCGCCAAGATGAT	0.498													False	0	False	2:29259479	0	A	29259479	G	A	29259479	3	1	88	1	0	0	0	0	1	0	0	0	5541	1087	38	1	2557	1	FAM179A	2	29259479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1072	29259479	213939894	2220	9932											
C2orf71	388939	broad.mit.edu	37	chr2	29293566	29293566	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgtcctcctgaggaaagGcagagggttgagggcacaca	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29293566G>T	ENST00000331664.5	-	1	3561	c.3562C>A	c.(3562-3564)Cct>Act	p.P1188T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1188					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGAGGAAAGGCAGAGGGTTG	0.632													False	0	False	2:29293566	0	T	29293566	G	T	29293566	3	4	88	1	0	0	0	0	1	0	0	0	2207	1203	42	3	312	3	C2orf71	2	29293566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34087	29293566	213905807	2221	9933											
CLIP4	79745	broad.mit.edu	37	chr2	29356571	29356571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcttattgacctgggaGcagacattagtttgcggagt	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29356571G>A	ENST00000320081.5	+	5	673	c.418G>A	c.(418-420)Gca>Aca	p.A140T	CLIP4_ENST00000401617.2_Missense_Mutation_p.A33T|CLIP4_ENST00000401605.1_Missense_Mutation_p.A140T|CLIP4_ENST00000404424.1_Missense_Mutation_p.A140T	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	140										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGACCTGGGAGCAGACATTAG	0.358													False	0	False	2:29356571	0	A	29356571	G	A	29356571	3	1	88	1	0	0	0	0	1	0	0	0	3558	971	34	2	432	2	CLIP4	2	29356571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63005	29356571	213842802	2222	9934											
CLIP4	79745	broad.mit.edu	37	chr2	29397296	29397296	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaaaaggagattaacagaaGaaatgctttttccaagtgag	9	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29397296G>T	ENST00000320081.5	+	15	2036	c.1781G>T	c.(1780-1782)aGa>aTa	p.R594I	CLIP4_ENST00000404424.1_Missense_Mutation_p.R594I|CLIP4_ENST00000401617.2_Missense_Mutation_p.R487I|CLIP4_ENST00000401605.1_Missense_Mutation_p.R594I	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	594										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATTAACAGAAGAAATGCTTTT	0.348													False	0	True	2:29397296	0	T	29397296	G	T	29397296	3	4	88	1	0	0	0	0	1	0	0	0	3558	942	33	3	1835	3	CLIP4	2	29397296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40725	29397296	213802077	2223	9935											
ALK	238	broad.mit.edu	37	chr2	30142927	30142927	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgcggacagccttccctctCtgcccacttccgacgccttc	7	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30142927C>T	ENST00000389048.3	-	1	1505	c.599G>A	c.(598-600)aGa>aAa	p.R200K	ALK_ENST00000431873.1_Missense_Mutation_p.R200K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	200					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTTCCCTCTCTGCCCACTTC	0.622			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				False	0	True	2:30142927	0	T	30142927	C	T	30142927	3	4	88	1	0	0	0	0	1	0	0	0	525	913	32	2	4379	2	ALK	2	30142927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	745631	30142927	213056446	2224	9936											
LBH	81606	broad.mit.edu	37	chr2	30480460	30480460	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagcaagataactgcgaagaGacagcgaaagaaaataaaga	11	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30480460G>T	ENST00000395323.3	+	3	499	c.291G>T	c.(289-291)gaG>gaT	p.E97D	LBH_ENST00000406087.1_3'UTR|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Intron|LBH_ENST00000407930.2_Missense_Mutation_p.E80D|LBH_ENST00000401506.1_Missense_Mutation_p.E103D	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	97					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					ACTGCGAAGAGACAGCGAAAG	0.547													False	0	False	2:30480460	0	T	30480460	G	T	30480460	3	4	88	1	0	0	0	0	1	0	0	0	8701	933	33	3	301	3	LBH	2	30480460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337533	30480460	212718913	2225	9937											
LCLAT1	253558	broad.mit.edu	37	chr2	30756073	30756073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcattatcatgaaccatcGgacaagaatggactggatgt	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30756073G>A	ENST00000309052.4	+	4	580	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	LCLAT1_ENST00000379509.3_Missense_Mutation_p.R86Q|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R86Q|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R124Q|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R124Q	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	124					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						ATGAACCATCGGACAAGAATG	0.413													False	0	False	2:30756073	0	A	30756073	G	A	30756073	3	1	88	1	0	0	0	0	1	0	0	0	8728	1116	39	1	381	1	LCLAT1	2	30756073	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275613	30756073	212443300	2226	9938											
CAPN13	92291	broad.mit.edu	37	chr2	31010077	31010077	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaatctgctgcagggaatgTctcatccttaaacgtccggc	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31010077T>G	ENST00000295055.8	-	2	291	c.115A>C	c.(115-117)Aca>Cca	p.T39P	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.T39P	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	39	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GCAGGGAATGTCTCATCCTTA	0.542													False	0	False	2:31010077	0	G	31010077	T	G	31010077	3	3	88	1	0	0	0	0	1	0	0	0	2646	1667	58	4	1978	4	CAPN13	2	31010077	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	254004	31010077	212189296	2227	9939											
EHD3	30845	broad.mit.edu	37	chr2	31457609	31457609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttggaagagcattaccGcttccacgagttccactcgc	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31457609G>A	ENST00000322054.5	+	1	407	c.122G>A	c.(121-123)cGc>cAc	p.R41H	EHD3_ENST00000541626.1_Missense_Mutation_p.R41H	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	41					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	p.R41L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GAGCATTACCGCTTCCACGAG	0.597													False	0	False	2:31457609	0	A	31457609	G	A	31457609	3	1	88	1	0	0	0	0	1	0	0	0	5009	1087	38	1	124	1	EHD3	2	31457609	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	447532	31457609	211741764	2228	9940											
EHD3	30845	broad.mit.edu	37	chr2	31467303	31467303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcaacgcctttggcaacGccttcttgaacaggtgagtg	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31467303G>A	ENST00000322054.5	+	2	676	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	EHD3_ENST00000541626.1_Missense_Mutation_p.A131T	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	131					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CTTTGGCAACGCCTTCTTGAA	0.537													False	0	False	2:31467303	0	A	31467303	G	A	31467303	3	1	88	1	0	0	0	0	1	0	0	0	5009	1087	38	1	397	1	EHD3	2	31467303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9694	31467303	211732070	2229	9941											
EHD3	30845	broad.mit.edu	37	chr2	31483495	31483495	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtcatcaaagccctcAagaaccacgaggacaagatg	9	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31483495A>C	ENST00000322054.5	+	4	907	c.622A>C	c.(622-624)Aag>Cag	p.K208Q	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	208					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAAAGCCCTCAAGAACCACGA	0.552													False	0	False	2:31483495	0	C	31483495	A	C	31483495	3	2	88	1	0	0	0	0	1	0	0	0	5009	131	5	4	636	4	EHD3	2	31483495	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16192	31483495	211715878	2230	9942											
EHD3	30845	broad.mit.edu	37	chr2	31483688	31483688	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaccggaagctctttgAggctgaggaacaggacctat	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31483688A>C	ENST00000322054.5	+	4	1100	c.815A>C	c.(814-816)gAg>gCg	p.E272A	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	272					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AAGCTCTTTGAGGCTGAGGAA	0.587													False	0	False	2:31483688	0	C	31483688	A	C	31483688	3	2	88	1	0	0	0	0	1	0	0	0	5009	304	11	4	829	4	EHD3	2	31483688	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	193	31483688	211715685	2231	9943											
EHD3	30845	broad.mit.edu	37	chr2	31484505	31484505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctggtcaacaacctgGccgagatctatggccggatc	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31484505G>A	ENST00000322054.5	+	5	1291	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	336					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAACAACCTGGCCGAGATCTA	0.562													False	0	False	2:31484505	0	A	31484505	G	A	31484505	3	1	88	1	0	0	0	0	1	0	0	0	5009	1203	42	2	1024	2	EHD3	2	31484505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	817	31484505	211714868	2232	9944											
EHD3	30845	broad.mit.edu	37	chr2	31489251	31489251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatggctatggggagggggCtggagaaggtatcgatgatg	20	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31489251C>T	ENST00000322054.5	+	6	1574	c.1289C>T	c.(1288-1290)gCt>gTt	p.A430V	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	430					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGGGAGGGGGCTGGAGAAGGT	0.622													False	0	True	2:31489251	0	T	31489251	C	T	31489251	3	4	88	1	0	0	0	0	1	0	0	0	5009	797	28	2	1311	2	EHD3	2	31489251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4746	31489251	211710122	2233	9945											
XDH	7498	broad.mit.edu	37	chr2	31560588	31560588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccggaagagttccttcacGttattacctgtgtgctgagc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31560588G>A	ENST00000379416.3	-	35	3918	c.3870C>T	c.(3868-3870)aaC>aaT	p.N1290N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1290					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTTCCTTCACGTTATTACCTG	0.562													False	0	False	2:31560588	0	A	31560588	G	A	31560588	2	1	88	1	0	0	0	0	0	0	0	1	17510	1136	40	1		1	XDH	2	31560588	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71337	31560588	211638785	2234	9946											
XDH	7498	broad.mit.edu	37	chr2	31570487	31570487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgatataaatcttagaGgtggggattttcagagctct	11	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31570487G>A	ENST00000379416.3	-	29	3225	c.3177C>T	c.(3175-3177)acC>acT	p.T1059T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1059					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAATCTTAGAGGTGGGGATTT	0.542													False	0	False	2:31570487	0	A	31570487	G	A	31570487	2	1	88	1	0	0	0	0	0	0	0	1	17510	987	35	2		2	XDH	2	31570487	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9899	31570487	211628886	2235	9947											
XDH	7498	broad.mit.edu	37	chr2	31571782	31571782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgattcagaaaaggaaCtgtaaagcttattccaaact	6	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31571782C>T	ENST00000379416.3	-	27	3082	c.3034G>A	c.(3034-3036)Gtt>Att	p.V1012I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1012					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGAAAAGGAACTGTAAAGCTT	0.388													False	0	False	2:31571782	0	T	31571782	C	T	31571782	3	4	88	1	0	0	0	0	1	0	0	0	17510	565	20	2	1007	2	XDH	2	31571782	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1295	31571782	211627591	2236	9948											
XDH	7498	broad.mit.edu	37	chr2	31573079	31573079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtccatgtggaataaagctCgttccataatctgaagcaga	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31573079C>T	ENST00000379416.3	-	25	2690	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	881					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.R881Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAATAAAGCTCGTTCCATAAT	0.498													False	0	False	2:31573079	0	T	31573079	C	T	31573079	3	4	88	1	0	0	0	0	1	0	0	0	17510	884	31	1	1407	1	XDH	2	31573079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1297	31573079	211626294	2237	9949											
XDH	7498	broad.mit.edu	37	chr2	31588402	31588402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatgcatcgcacagggCggccggtcctgggggttacc	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31588402C>T	ENST00000379416.3	-	23	2513	c.2465G>A	c.(2464-2466)cGc>cAc	p.R822H		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	822					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCGCACAGGGCGGCCGGTCCT	0.557													False	0	True	2:31588402	0	T	31588402	C	T	31588402	3	4	88	1	0	0	0	0	1	0	0	0	17510	768	27	1	1592	1	XDH	2	31588402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15323	31588402	211610971	2238	9950											
XDH	7498	broad.mit.edu	37	chr2	31593326	31593326	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccctggaaccttcttagcTtctgatgtatctatggacct	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31593326T>G	ENST00000379416.3	-	18	1923	c.1875A>C	c.(1873-1875)gaA>gaC	p.E625D		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	625					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCTTCTTAGCTTCTGATGTAT	0.478													False	0	False	2:31593326	0	G	31593326	T	G	31593326	3	3	88	1	0	0	0	0	1	0	0	0	17510	1606	56	4	2202	4	XDH	2	31593326	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4924	31593326	211606047	2239	9951											
XDH	7498	broad.mit.edu	37	chr2	31624144	31624144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccacagttgtcactgcaAcatggtgcaaggagcagatg	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31624144A>G	ENST00000379416.3	-	4	296	c.248T>C	c.(247-249)gTt>gCt	p.V83A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	83	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGTCACTGCAACATGGTGCAA	0.507													False	0	False	2:31624144	0	G	31624144	A	G	31624144	3	3	88	1	0	0	0	0	1	0	0	0	17510	43	2	4	3885	4	XDH	2	31624144	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30818	31624144	211575229	2240	9952											
SRD5A2	6716	broad.mit.edu	37	chr2	31805971	31805971	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcactgaacctgcatcGcgccgtgttcctcgccggtg	13	15	0	1	rs61748132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31805971G>A	ENST00000405650.1	-	0	165							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	AACCTGCATCGCGCCGTGTTC	0.701													False	0	False	2:31805971	0	A	31805971	G	A	31805971	1	1	88	0	1	0	0	0	0	0	0	0	15221	1102	38	1		1	SRD5A2	2	31805971	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181827	31805971	211393402	2241	9953											
SRD5A2	6716	broad.mit.edu	37	chr2	31806019	31806019	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccagaagagagcgcgGcccccgcaacccctttatgg	10	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31806019G>A	ENST00000405650.1	-	0	117							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	AGAGAGCGCGGCCCCCGCAAC	0.716													False	0	True	2:31806019	0	A	31806019	G	A	31806019	1	1	88	0	1	0	0	0	0	0	0	0	15221	1218	42	2		2	SRD5A2	2	31806019	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	31806019	211393354	2242	9954											
NLRC4	58484	broad.mit.edu	37	chr2	32475213	32475213	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgaaagaaagcttcaaattCttggctcagggctgatttgg	11	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32475213C>A	ENST00000404025.2	-	5	2208	c.1720G>T	c.(1720-1722)Gaa>Taa	p.E574*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E574*|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E574*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	574					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTCAAATTCTTGGCTCAGG	0.378													False	0	False	2:32475213	0	A	32475213	C	A	32475213	4	1	88	1	0	0	0	0	0	1	0	0	10537	922	32	3	1378	3	NLRC4	2	32475213	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	669194	32475213	210724160	2243	9955											
NLRC4	58484	broad.mit.edu	37	chr2	32476155	32476155	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttatcagggcttcgatttCtgggcagttctggggcttga	13	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32476155C>A	ENST00000404025.2	-	5	1266	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.E260*|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.E260*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	260	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTCGATTTCTGGGCAGTTC	0.507													False	0	True	2:32476155	0	A	32476155	C	A	32476155	4	1	88	1	0	0	0	0	0	1	0	0	10537	922	32	3	2320	3	NLRC4	2	32476155	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	942	32476155	210723218	2244	9956											
NLRC4	58484	broad.mit.edu	37	chr2	32476650	32476650	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaatcgtccaagtctccttCtgatgtctgatgaaaaagac	7	10	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32476650C>T	ENST00000404025.2	-	5	771	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	NLRC4_ENST00000402280.1_Missense_Mutation_p.E95K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E95K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	95					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAGTCTCCTTCTGATGTCTGA	0.408													False	0	False	2:32476650	0	T	32476650	C	T	32476650	3	4	88	1	0	0	0	0	1	0	0	0	10537	922	32	2	2815	2	NLRC4	2	32476650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	495	32476650	210722723	2245	9957											
BIRC6	57448	broad.mit.edu	37	chr2	32673919	32673919	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgatttggagatgagtgGctcttcttgtaaaaatgttt	10	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32673919G>T	ENST00000421745.2	+	22	4675	c.4541G>T	c.(4540-4542)gGc>gTc	p.G1514V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1514					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGATGAGTGGCTCTTCTTGT	0.338													False	0	False	2:32673919	0	T	32673919	G	T	32673919	3	4	88	1	0	0	0	0	1	0	0	0	1443	1203	42	3	4627	3	BIRC6	2	32673919	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197269	32673919	210525454	2246	9958											
BIRC6	57448	broad.mit.edu	37	chr2	32673997	32673997	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatcagatgtcctttcagGtagtgatttcttttattaaa	6	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32673997G>A	ENST00000421745.2	+	22	4752		c.e22+1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTCCTTTCAGGTAGTGATTTC	0.318													False	0	False	2:32673997	0	A	32673997	G	A	32673997	5	1	88	1	0	0	0	0	0	0	1	0	1443	1275	44	2	4705	2	BIRC6	2	32673997	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78	32673997	210525376	2247	9959											
BIRC6	57448	broad.mit.edu	37	chr2	32702455	32702455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactttaaggatttaattcGtttacgtcggacagcagaat	9	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32702455G>A	ENST00000421745.2	+	35	7006	c.6872G>A	c.(6871-6873)cGt>cAt	p.R2291H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2291					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GATTTAATTCGTTTACGTCGG	0.328													False	0	True	2:32702455	0	A	32702455	G	A	32702455	3	1	88	1	0	0	0	0	1	0	0	0	1443	1145	40	1	7010	1	BIRC6	2	32702455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28458	32702455	210496918	2248	9960											
BIRC6	57448	broad.mit.edu	37	chr2	32740700	32740700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtgcacaacagaccagtGcaagatcagcttctctttct	8	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32740700G>A	ENST00000421745.2	+	55	11346	c.11212G>A	c.(11212-11214)Gca>Aca	p.A3738T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3738					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAGACCAGTGCAAGATCAGC	0.448													False	0	False	2:32740700	0	A	32740700	G	A	32740700	3	1	88	1	0	0	0	0	1	0	0	0	1443	1319	46	2	11430	2	BIRC6	2	32740700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38245	32740700	210458673	2249	9961											
TTC27	55622	broad.mit.edu	37	chr2	33036232	33036232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatggagaaatctggaggCtgtatgcccacgtatatgga	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33036232C>T	ENST00000317907.4	+	17	2371	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	714							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AATCTGGAGGCTGTATGCCCA	0.453													False	0	False	2:33036232	0	T	33036232	C	T	33036232	2	4	88	1	0	0	0	0	0	0	0	1	16779	796	28	2		2	TTC27	2	33036232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295532	33036232	210163141	2250	9962											
RASGRP3	25780	broad.mit.edu	37	chr2	33783327	33783327	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagacctcctggttctggcCtgcaggagatttgcccgggc	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33783327C>A	ENST00000403687.3	+	16	2369	c.1629C>A	c.(1627-1629)gcC>gcA	p.A543A	RASGRP3_ENST00000407811.1_Silent_p.A542A|RASGRP3_ENST00000402538.3_Silent_p.A543A|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	543					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGTTCTGGCCTGCAGGAGAT	0.542													False	0	False	2:33783327	0	A	33783327	C	A	33783327	2	1	88	1	0	0	0	0	0	0	0	1	13155	668	24	3		3	RASGRP3	2	33783327	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	747095	33783327	209416046	2251	9963											
RASGRP3	25780	broad.mit.edu	37	chr2	33783829	33783829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggttacaggctcttctcGcaagatctctgtgaggctac	10	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33783829G>A	ENST00000403687.3	+	17	2536	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	RASGRP3_ENST00000407811.1_Missense_Mutation_p.R598H|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R599H|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	599					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GGCTCTTCTCGCAAGATCTCT	0.592													False	0	False	2:33783829	0	A	33783829	G	A	33783829	3	1	88	1	0	0	0	0	1	0	0	0	13155	1087	38	1	1854	1	RASGRP3	2	33783829	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	502	33783829	209415544	2252	9964											
CRIM1	51232	broad.mit.edu	37	chr2	36691752	36691752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcatagtctctcgtggCgatgggacacctggaaagtg	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36691752C>T	ENST00000280527.2	+	5	1312	c.945C>T	c.(943-945)ggC>ggT	p.G315G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	315					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	p.G315G(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCTCTCGTGGCGATGGGACAC	0.502													False	0	False	2:36691752	0	T	36691752	C	T	36691752	2	4	88	1	0	0	0	0	0	0	0	1	3896	755	27	1		1	CRIM1	2	36691752	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2907923	36691752	206507621	2253	9965											
CRIM1	51232	broad.mit.edu	37	chr2	36704168	36704168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtggtgagataaactgCgagaggtactacgtgcccga	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36704168C>T	ENST00000280527.2	+	6	1495	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	376	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGATAAACTGCGAGAGGTACT	0.488													False	0	False	2:36704168	0	T	36704168	C	T	36704168	2	4	88	1	0	0	0	0	0	0	0	1	3896	776	27	1		1	CRIM1	2	36704168	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12416	36704168	206495205	2254	9966											
CRIM1	51232	broad.mit.edu	37	chr2	36771593	36771593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagaggttgacctggaggttCccctgtggcccacgcctagt	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36771593C>T	ENST00000280527.2	+	15	3065	c.2698C>T	c.(2698-2700)Ccc>Tcc	p.P900S	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	900					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CCTGGAGGTTCCCCTGTGGCC	0.448													False	0	True	2:36771593	0	T	36771593	C	T	36771593	3	4	88	1	0	0	0	0	1	0	0	0	3896	855	30	2	2756	2	CRIM1	2	36771593	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67425	36771593	206427780	2255	9967											
VIT	5212	broad.mit.edu	37	chr2	36982186	36982186	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accacgatggagagaatcctTtatcgtcttaggtatgacca	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36982186T>G	ENST00000379242.3	+	5	700	c.398T>G	c.(397-399)tTt>tGt	p.F133C	VIT_ENST00000401530.1_Missense_Mutation_p.F133C|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.F133C|VIT_ENST00000404084.1_Missense_Mutation_p.F111C|VIT_ENST00000389975.3_Missense_Mutation_p.F133C|VIT_ENST00000457137.2_Missense_Mutation_p.F133C	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	133	LCCL.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGAGAATCCTTTATCGTCTTA	0.443													False	0	True	2:36982186	0	G	36982186	T	G	36982186	3	3	88	1	0	0	0	0	1	0	0	0	17255	1841	64	4	412	4	VIT	2	36982186	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	210593	36982186	206217187	2256	9968											
VIT	5212	broad.mit.edu	37	chr2	36994315	36994315	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactctgatgcagcttctggCtgtcactgtagctgtggcca	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36994315C>A	ENST00000379242.3	+	7	868	c.566C>A	c.(565-567)gCt>gAt	p.A189D	VIT_ENST00000401530.1_Missense_Mutation_p.A189D|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.A189D|VIT_ENST00000404084.1_Missense_Mutation_p.A167D|VIT_ENST00000389975.3_Missense_Mutation_p.A189D	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	189						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAGCTTCTGGCTGTCACTGTA	0.552													False	0	False	2:36994315	0	A	36994315	C	A	36994315	3	1	88	1	0	0	0	0	1	0	0	0	17255	797	28	3	713	3	VIT	2	36994315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12129	36994315	206205058	2257	9969											
VIT	5212	broad.mit.edu	37	chr2	37035781	37035781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcgtcatcgacggctccaGcagtgtggggacgggcaact	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37035781G>T	ENST00000379242.3	+	15	1858	c.1556G>T	c.(1555-1557)aGc>aTc	p.S519I	VIT_ENST00000401530.1_Missense_Mutation_p.S483I|VIT_ENST00000497382.1_Missense_Mutation_p.S173I|VIT_ENST00000379241.3_Missense_Mutation_p.S482I|VIT_ENST00000404084.1_Missense_Mutation_p.S456I|VIT_ENST00000389975.3_Missense_Mutation_p.S504I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	504	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GACGGCTCCAGCAGTGTGGGG	0.612													False	0	False	2:37035781	0	T	37035781	G	T	37035781	3	4	88	1	0	0	0	0	1	0	0	0	17255	971	34	3	1735	3	VIT	2	37035781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41466	37035781	206163592	2258	9970											
STRN	6801	broad.mit.edu	37	chr2	37082439	37082439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatcccttgctgaatgatgCtaccatatggctcgggtcac	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37082439C>T	ENST00000263918.4	-	15	1902	c.1894G>A	c.(1894-1896)Gca>Aca	p.A632T	STRN_ENST00000379213.2_Missense_Mutation_p.A583T	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	632					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTGAATGATGCTACCATATGG	0.388													False	0	False	2:37082439	0	T	37082439	C	T	37082439	3	4	88	1	0	0	0	0	1	0	0	0	15411	797	28	2	464	2	STRN	2	37082439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46658	37082439	206116934	2259	9971											
HEATR5B	54497	broad.mit.edu	37	chr2	37208886	37208886	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcaaaagaattttcaTccagcaggtaagatatcaaa	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37208886T>C	ENST00000233099.5	-	36	6058	c.5963A>G	c.(5962-5964)gAt>gGt	p.D1988G	HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1899G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1988							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGAATTTTCATCCAGCAGGTA	0.358													False	0	False	2:37208886	0	C	37208886	T	C	37208886	3	2	88	1	0	0	0	0	1	0	0	0	7079	1435	50	4	256	4	HEATR5B	2	37208886	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126447	37208886	205990487	2260	9972											
HEATR5B	54497	broad.mit.edu	37	chr2	37215952	37215952	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaggagttgaaagggcacgAttggaatgctggaagactga	15	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37215952A>G	ENST00000233099.5	-	35	5843	c.5748T>C	c.(5746-5748)aaT>aaC	p.N1916N	HEATR5B_ENST00000354531.2_Silent_p.N1827N	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1916							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAAGGGCACGATTGGAATGCT	0.363													False	0	False	2:37215952	0	G	37215952	A	G	37215952	2	3	88	1	0	0	0	0	0	0	0	1	7079	330	12	4		4	HEATR5B	2	37215952	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7066	37215952	205983421	2261	9973											
HEATR5B	54497	broad.mit.edu	37	chr2	37232786	37232786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactgtacctgatcttctgCaatatggactcgagcataag	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37232786C>T	ENST00000233099.5	-	30	4989	c.4894G>A	c.(4894-4896)Gca>Aca	p.A1632T	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1632T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1632							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGATCTTCTGCAATATGGACT	0.403													False	0	False	2:37232786	0	T	37232786	C	T	37232786	3	4	88	1	0	0	0	0	1	0	0	0	7079	710	25	2	1349	2	HEATR5B	2	37232786	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16834	37232786	205966587	2262	9974											
HEATR5B	54497	broad.mit.edu	37	chr2	37268381	37268381	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaacataacgatgcaaacaAccaagagccaatgaatgacc	6	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37268381A>G	ENST00000233099.5	-	19	2846	c.2751T>C	c.(2749-2751)ggT>ggC	p.G917G	HEATR5B_ENST00000354531.2_Silent_p.G917G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	917							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GATGCAAACAACCAAGAGCCA	0.428													False	0	False	2:37268381	0	G	37268381	A	G	37268381	2	3	88	1	0	0	0	0	0	0	0	1	7079	30	2	4		4	HEATR5B	2	37268381	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35595	37268381	205930992	2263	9975											
HEATR5B	54497	broad.mit.edu	37	chr2	37283632	37283632	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaccaaaaagggccacagAagcatcaatgactgagactc	8	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37283632A>C	ENST00000233099.5	-	16	2445	c.2350T>G	c.(2350-2352)Tct>Gct	p.S784A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S784A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	784							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGGGCCACAGAAGCATCAATG	0.408													False	0	False	2:37283632	0	C	37283632	A	C	37283632	3	2	88	1	0	0	0	0	1	0	0	0	7079	246	9	4	3949	4	HEATR5B	2	37283632	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15251	37283632	205915741	2264	9976											
HEATR5B	54497	broad.mit.edu	37	chr2	37286131	37286131	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaacgaagctcctcatggCtagataaaatgtttaaaagg	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37286131C>T	ENST00000233099.5	-	13	1945		c.e13-1		HEATR5B_ENST00000354531.2_Splice_Site	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B								binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CTCCTCATGGCTAGATAAAAT	0.328													False	0	False	2:37286131	0	T	37286131	C	T	37286131	5	4	88	1	0	0	0	0	0	0	1	0	7079	811	28	2	4462	2	HEATR5B	2	37286131	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2499	37286131	205913242	2265	9977											
HEATR5B	54497	broad.mit.edu	37	chr2	37296066	37296066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgttgtcacaaaaacaAcatacgcctgtaaaaagagg	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37296066A>G	ENST00000233099.5	-	8	1030	c.935T>C	c.(934-936)gTt>gCt	p.V312A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.V312A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	312							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CACAAAAACAACATACGCCTG	0.423													False	0	False	2:37296066	0	G	37296066	A	G	37296066	3	3	88	1	0	0	0	0	1	0	0	0	7079	43	2	4	5396	4	HEATR5B	2	37296066	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9935	37296066	205903307	2266	9978											
EIF2AK2	5610	broad.mit.edu	37	chr2	37365484	37365484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtatctgctgagaagtcacCttcagatgatgattcagaag	10	7	4	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37365484C>A	ENST00000233057.4	-	8	938	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.G206C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.G206C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	206					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GAGAAGTCACCTTCAGATGAT	0.343													False	0	False	2:37365484	0	A	37365484	C	A	37365484	3	1	88	1	0	0	0	0	1	0	0	0	5027	681	24	3	1079	3	EIF2AK2	2	37365484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69418	37365484	205833889	2267	9979											
SULT6B1	391365	broad.mit.edu	37	chr2	37410602	37410602	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaagatagacccaggtaatTtgtcatagtggaggtgagtt	13	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37410602T>G	ENST00000535679.1	-	3	367	c.368A>C	c.(367-369)aAa>aCa	p.K123T	SULT6B1_ENST00000260637.3_Missense_Mutation_p.K85T|SULT6B1_ENST00000407963.1_Missense_Mutation_p.K85T|SULT6B1_ENST00000379149.2_Intron			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	123						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CCCAGGTAATTTGTCATAGTG	0.358													False	0	True	2:37410602	0	G	37410602	T	G	37410602	3	3	88	1	0	0	0	0	1	0	0	0	15466	1841	64	4	563	4	SULT6B1	2	37410602	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	45118	37410602	205788771	2268	9980											
SULT6B1	391365	broad.mit.edu	37	chr2	37415634	37415634	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatcatgtctggcttcgaaGgtgtccagcgcttggaaagt	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37415634G>T	ENST00000535679.1	-	1	149	c.150C>A	c.(148-150)acC>acA	p.T50T	SULT6B1_ENST00000260637.3_Silent_p.T12T|SULT6B1_ENST00000407963.1_Silent_p.T12T|SULT6B1_ENST00000379149.2_Silent_p.T50T			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	50						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGGCTTCGAAGGTGTCCAGCG	0.438													False	0	False	2:37415634	0	T	37415634	G	T	37415634	2	4	88	1	0	0	0	0	0	0	0	1	15466	987	35	3		3	SULT6B1	2	37415634	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5032	37415634	205783739	2269	9981											
CEBPZ	10153	broad.mit.edu	37	chr2	37454709	37454709	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtataatgctgtgtaatatcGatccgatattgtctgctgag	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37454709G>A	ENST00000234170.5	-	2	1772	c.1627C>T	c.(1627-1629)Cga>Tga	p.R543*		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	543					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GTGTAATATCGATCCGATATT	0.378													False	0	False	2:37454709	0	A	37454709	G	A	37454709	4	1	88	1	0	0	0	0	0	1	0	0	3227	1066	37	1	1597	1	CEBPZ	2	37454709	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39075	37454709	205744664	2270	9982											
CEBPZ	10153	broad.mit.edu	37	chr2	37454764	37454764	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaaagcaacattaaagcctgGacactggtattaaaattcac	6	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37454764G>T	ENST00000234170.5	-	2	1717	c.1572C>A	c.(1570-1572)gtC>gtA	p.V524V		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	524					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTAAAGCCTGGACACTGGTAT	0.378													False	0	False	2:37454764	0	T	37454764	G	T	37454764	2	4	88	1	0	0	0	0	0	0	0	1	3227	1161	41	3		3	CEBPZ	2	37454764	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55	37454764	205744609	2271	9983											
PRKD3	23683	broad.mit.edu	37	chr2	37509721	37509721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccaaggcagtctcttgGtacttttgatgcacagcgtt	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37509721G>A	ENST00000379066.1	-	7	1714	c.952C>T	c.(952-954)Cca>Tca	p.P318S	PRKD3_ENST00000234179.2_Missense_Mutation_p.P318S			O94806	KPCD3_HUMAN	protein kinase D3	318					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CAGTCTCTTGGTACTTTTGAT	0.318													False	0	False	2:37509721	0	A	37509721	G	A	37509721	3	1	88	1	0	0	0	0	1	0	0	0	12596	1261	44	2	1772	2	PRKD3	2	37509721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54957	37509721	205689652	2272	9984											
PRKD3	23683	broad.mit.edu	37	chr2	37509738	37509738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtacttttgatgcacagCgtttatggcagttgaatttg	11	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37509738C>T	ENST00000379066.1	-	7	1697	c.935G>A	c.(934-936)cGc>cAc	p.R312H	PRKD3_ENST00000234179.2_Missense_Mutation_p.R312H			O94806	KPCD3_HUMAN	protein kinase D3	312					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGATGCACAGCGTTTATGGCA	0.313													False	0	False	2:37509738	0	T	37509738	C	T	37509738	3	4	88	1	0	0	0	0	1	0	0	0	12596	768	27	1	1789	1	PRKD3	2	37509738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17	37509738	205689635	2273	9985											
PRKD3	23683	broad.mit.edu	37	chr2	37520372	37520372	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttcatgtcatggcgaaagaGaagaattttgtcatacatgc	10	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37520372G>T	ENST00000379066.1	-	3	1093	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	PRKD3_ENST00000234179.2_Missense_Mutation_p.L111I			O94806	KPCD3_HUMAN	protein kinase D3	111					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGGCGAAAGAGAAGAATTTTG	0.373													False	0	False	2:37520372	0	T	37520372	G	T	37520372	3	4	88	1	0	0	0	0	1	0	0	0	12596	942	33	3	2409	3	PRKD3	2	37520372	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10634	37520372	205679001	2274	9986											
QPCT	25797	broad.mit.edu	37	chr2	37586768	37586768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaggctgactgggtcttgGaaatagacaccttcttgagt	11	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37586768G>A	ENST00000338415.3	+	3	471	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	QPCT_ENST00000537448.1_Missense_Mutation_p.E56K	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	105					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTGGGTCTTGGAAATAGACAC	0.423													False	0	True	2:37586768	0	A	37586768	G	A	37586768	3	1	88	1	0	0	0	0	1	0	0	0	12953	1175	41	2	323	2	QPCT	2	37586768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66396	37586768	205612605	2275	9987											
CYP1B1	1545	broad.mit.edu	37	chr2	38298132	38298132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatcactctgctggtcagGtccttgttgatgaggccatc	10	11	4	2	rs139251365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38298132G>A	ENST00000260630.3	-	3	1766	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Silent_p.D455D	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	455					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	TGCTGGTCAGGTCCTTGTTGA	0.488													False	0	False	2:38298132	0	A	38298132	G	A	38298132	2	1	88	1	0	0	0	0	0	0	0	1	4176	1252	44	2		2	CYP1B1	2	38298132	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	711364	38298132	204901241	2276	9988											
CYP1B1	1545	broad.mit.edu	37	chr2	38298319	38298319	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatagtgacaggcacaaagCtggagaagcgcatggcttca	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38298319C>A	ENST00000260630.3	-	3	1579	c.1178G>T	c.(1177-1179)aGc>aTc	p.S393I	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.S393I	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	393					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	AGGCACAAAGCTGGAGAAGCG	0.547													False	0	False	2:38298319	0	A	38298319	C	A	38298319	3	1	88	1	0	0	0	0	1	0	0	0	4176	797	28	3	457	3	CYP1B1	2	38298319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187	38298319	204901054	2277	9989											
GEMIN6	79833	broad.mit.edu	37	chr2	39008821	39008821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaagcatacagcccagaGgatctggaagagagaaagaa	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39008821G>T	ENST00000281950.3	+	3	407	c.291G>T	c.(289-291)gaG>gaT	p.E97D	GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6						ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding			kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				ACAGCCCAGAGGATCTGGAAG	0.493													False	0	False	2:39008821	0	T	39008821	G	T	39008821	3	4	88	1	0	0	0	0	1	0	0	0	6377	991	35	3	297	3	GEMIN6	2	39008821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	710502	39008821	204190552	2278	9990											
DHX57	90957	broad.mit.edu	37	chr2	39030003	39030003	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtctcggatgaatactcGactagtttttatcttctcgt	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39030003G>A	ENST00000295373.6	-	23	3997	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1291							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATGAATACTCGACTAGTTTTT	0.473													False	0	False	2:39030003	0	A	39030003	G	A	39030003	4	1	88	1	0	0	0	0	0	1	0	0	4543	1066	37	1	297	1	DHX57	2	39030003	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21182	39030003	204169370	2279	9991											
DHX57	90957	broad.mit.edu	37	chr2	39033740	39033740	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaatgtgtacatatccAtcgttcttggtgacaaactt	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39033740A>G	ENST00000295373.6	-	22	3903	c.3777T>C	c.(3775-3777)gaT>gaC	p.D1259D		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1259							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTACATATCCATCGTTCTTGG	0.423													False	0	False	2:39033740	0	G	39033740	A	G	39033740	2	3	88	1	0	0	0	0	0	0	0	1	4543	214	8	4		4	DHX57	2	39033740	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3737	39033740	204165633	2280	9992											
DHX57	90957	broad.mit.edu	37	chr2	39053104	39053104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaccccagatgcaacacGgcctgctcggcctttccttt	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39053104G>A	ENST00000295373.6	-	16	3025	c.2899C>T	c.(2899-2901)Cgt>Tgt	p.R967C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	967	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GATGCAACACGGCCTGCTCGG	0.428													False	0	False	2:39053104	0	A	39053104	G	A	39053104	3	1	88	1	0	0	0	0	1	0	0	0	4543	1116	39	1	1297	1	DHX57	2	39053104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19364	39053104	204146269	2281	9993											
DHX57	90957	broad.mit.edu	37	chr2	39082360	39082360	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccattcagagaatcatccaGaataaactgcggaatttgtg	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39082360G>T	ENST00000295373.6	-	8	1870	c.1744C>A	c.(1744-1746)Ctg>Atg	p.L582M		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	582	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GAATCATCCAGAATAAACTGC	0.413													False	0	False	2:39082360	0	T	39082360	G	T	39082360	3	4	88	1	0	0	0	0	1	0	0	0	4543	933	33	3	2484	3	DHX57	2	39082360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29256	39082360	204117013	2282	9994											
SOS1	6654	broad.mit.edu	37	chr2	39249909	39249909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagcattgttacatcaaGcatcctttccagtgtactcc	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39249909G>A	ENST00000426016.1	-	11	1746	c.1660C>T	c.(1660-1662)Ctt>Ttt	p.L554F	SOS1_ENST00000395038.2_Missense_Mutation_p.L554F|SOS1_ENST00000402219.2_Missense_Mutation_p.L554F			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	554					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GTTACATCAAGCATCCTTTCC	0.398									Noonan syndrome				False	0	False	2:39249909	0	A	39249909	G	A	39249909	3	1	88	1	0	0	0	0	1	0	0	0	15016	971	34	2	2397	2	SOS1	2	39249909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167549	39249909	203949464	2283	9995											
SOS1	6654	broad.mit.edu	37	chr2	39285830	39285830	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttacctttaataaaggatgaAttttttctactgggagagat	8	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39285830A>T	ENST00000426016.1	-	4	415	c.329T>A	c.(328-330)aTt>aAt	p.I110N	SOS1_ENST00000395038.2_Missense_Mutation_p.I110N|SOS1_ENST00000428721.2_Missense_Mutation_p.I53N|SOS1_ENST00000402219.2_Missense_Mutation_p.I110N			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	110					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAAAGGATGAATTTTTTCTAC	0.343									Noonan syndrome				False	0	True	2:39285830	0	T	39285830	A	T	39285830	3	4	88	1	0	0	0	0	1	0	0	0	15016	101	4	5	3756	5	SOS1	2	39285830	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35921	39285830	203913543	2284	9996											
CDKL4	344387	broad.mit.edu	37	chr2	39406330	39406330	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttttgagcggaagtacctGttggcgtcttctgtttcttc	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39406330G>A	ENST00000378803.1	-	8	924	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	CDKL4_ENST00000395035.3_Nonsense_Mutation_p.Q309*	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	309						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GGAAGTACCTGTTGGCGTCTT	0.393													False	0	False	2:39406330	0	A	39406330	G	A	39406330	4	1	88	1	0	0	0	0	0	1	0	0	3179	1386	48	2	26	2	CDKL4	2	39406330	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120500	39406330	203793043	2285	9997											
CDKL4	344387	broad.mit.edu	37	chr2	39440588	39440588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagtgtttgccataataCgcttttgatcactccatcag	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39440588C>T	ENST00000378803.1	-	3	315	c.316G>A	c.(316-318)Gta>Ata	p.V106I	CDKL4_ENST00000395035.3_Missense_Mutation_p.V106I	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	106	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGCCATAATACGCTTTTGATC	0.338													False	0	False	2:39440588	0	T	39440588	C	T	39440588	3	4	88	1	0	0	0	0	1	0	0	0	3179	536	19	1	655	1	CDKL4	2	39440588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34258	39440588	203758785	2286	9998											
MAP4K3	8491	broad.mit.edu	37	chr2	39494335	39494335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagtttacttaccaacaCaacacttctggcaccatttg	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39494335C>T	ENST00000263881.3	-	27	2351	c.2027G>A	c.(2026-2028)tGt>tAt	p.C676Y	MAP4K3_ENST00000341681.5_Missense_Mutation_p.C655Y|MAP4K3_ENST00000536018.1_Missense_Mutation_p.C229Y|MAP4K3_ENST00000437545.1_Missense_Mutation_p.C592Y	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	676	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CTTACCAACACAACACTTCTG	0.383													False	0	True	2:39494335	0	T	39494335	C	T	39494335	3	4	88	1	0	0	0	0	1	0	0	0	9328	478	17	2	689	2	MAP4K3	2	39494335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53747	39494335	203705038	2287	9999											
MAP4K3	8491	broad.mit.edu	37	chr2	39583458	39583458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcataataatttcttgCtgcacaactgcaaagtcttc	4	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39583458C>A	ENST00000263881.3	-	3	501	c.177G>T	c.(175-177)caG>caT	p.Q59H	MAP4K3_ENST00000341681.5_Missense_Mutation_p.Q59H|MAP4K3_ENST00000437545.1_5'UTR|MAP4K3_ENST00000484274.1_Missense_Mutation_p.Q59H	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	59	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TAATTTCTTGCTGCACAACTG	0.303													False	0	False	2:39583458	0	A	39583458	C	A	39583458	3	1	88	1	0	0	0	0	1	0	0	0	9328	796	28	3	2635	3	MAP4K3	2	39583458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89123	39583458	203615915	2288	10000											
SLC8A1	6546	broad.mit.edu	37	chr2	40655686	40655686	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctccacctctggcagtccCttcgatggttttatatggaa	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:40655686C>A	ENST00000406785.2	-	2	1924	c.1735G>T	c.(1735-1737)Ggg>Tgg	p.G579W	SLC8A1_ENST00000406391.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G579W|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G579W|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G579W|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G579W|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G579W			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1		Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTGGCAGTCCCTTCGATGGTT	0.428													False	0	True	2:40655686	0	A	40655686	C	A	40655686	3	1	88	1	0	0	0	0	1	0	0	0	14786	681	24	3	1334	3	SLC8A1	2	40655686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1072228	40655686	202543687	2289	10001											
EML4	27436	broad.mit.edu	37	chr2	42513424	42513424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcctctacaaccccacGtcagagtgtgggattctgtt	10	12	3	1	rs146370925	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42513424G>A	ENST00000318522.5	+	10	1289	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	EML4_ENST00000401738.3_Missense_Mutation_p.V354I|EML4_ENST00000402711.2_Missense_Mutation_p.V285I	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	343					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACAACCCCACGTCAGAGTGTG	0.438			T	ALK	NSCLC								False	0	False	2:42513424	0	A	42513424	G	A	42513424	3	1	88	1	0	0	0	0	1	0	0	0	5131	1145	40	1	1065	1	EML4	2	42513424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1857738	42513424	200685949	2290	10002											
KCNG3	170850	broad.mit.edu	37	chr2	42720251	42720251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggcccagcacgcccggctCgtcggccgagtagaaggtgt	16	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42720251C>T	ENST00000306078.1	-	1	986	c.391G>A	c.(391-393)Gag>Aag	p.E131K	KCNG3_ENST00000394973.4_Missense_Mutation_p.E131K	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	131						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						ACGCCCGGCTCGTCGGCCGAG	0.736													False	0	False	2:42720251	0	T	42720251	C	T	42720251	3	4	88	1	0	0	0	0	1	0	0	0	8079	893	31	1	927	1	KCNG3	2	42720251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206827	42720251	200479122	2291	10003											
KCNG3	170850	broad.mit.edu	37	chr2	42720563	42720563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagcgggaagtccttcaGcagctcccgggacagcgaat	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42720563G>T	ENST00000306078.1	-	1	674	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	KCNG3_ENST00000394973.4_Missense_Mutation_p.L27M	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	27						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						AAGTCCTTCAGCAGCTCCCGG	0.726													False	0	False	2:42720563	0	T	42720563	G	T	42720563	3	4	88	1	0	0	0	0	1	0	0	0	8079	962	34	3	1239	3	KCNG3	2	42720563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	312	42720563	200478810	2292	10004											
HAAO	23498	broad.mit.edu	37	chr2	43015685	43015685	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctacctcttcaccctcttcgAtgtgatagtccttcctggtg	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43015685A>T	ENST00000294973.6	-	2	198	c.143T>A	c.(142-144)aTc>aAc	p.I48N		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	48	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						ACCCTCTTCGATGTGATAGTC	0.597													False	0	False	2:43015685	0	T	43015685	A	T	43015685	3	4	88	1	0	0	0	0	1	0	0	0	6984	333	12	5	753	5	HAAO	2	43015685	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	295122	43015685	200183688	2293	10005											
ZFP36L2	678	broad.mit.edu	37	chr2	43451467	43451467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcttgcctcagtcgtcGgagatggagaggcggctgaa	15	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43451467G>A	ENST00000282388.3	-	2	1769	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	492					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTCAGTCGTCGGAGATGGAGA	0.667													False	0	False	2:43451467	0	A	43451467	G	A	43451467	2	1	88	1	0	0	0	0	0	0	0	1	17730	1103	39	1		1	ZFP36L2	2	43451467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	435782	43451467	199747906	2294	10006											
ZFP36L2	678	broad.mit.edu	37	chr2	43453409	43453409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctccctggcctaccttgcAcaagaagtcgacatcgtaga	9	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43453409A>G	ENST00000282388.3	-	1	339	c.46T>C	c.(46-48)Tgc>Cgc	p.C16R	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	16					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCTACCTTGCACAAGAAGTCG	0.662													False	0	False	2:43453409	0	G	43453409	A	G	43453409	3	3	88	1	0	0	0	0	1	0	0	0	17730	159	6	4	1446	4	ZFP36L2	2	43453409	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1942	43453409	199745964	2295	10007											
THADA	63892	broad.mit.edu	37	chr2	43625219	43625219	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtgatctatcataacaAatgggaccaaggcacgagct	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43625219A>C	ENST00000405006.4	-	29	4469	c.4118T>G	c.(4117-4119)tTt>tGt	p.F1373C	THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Missense_Mutation_p.F1054C|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.F1373C	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1373							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCATAACAAATGGGACCAA	0.473													False	0	True	2:43625219	0	C	43625219	A	C	43625219	3	2	88	1	0	0	0	0	1	0	0	0	15922	14	1	4	1783	4	THADA	2	43625219	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	171810	43625219	199574154	2296	10008											
THADA	63892	broad.mit.edu	37	chr2	43768414	43768414	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttctccaacaacataccaGcaccatctgcgcagttacat	4	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43768414G>T	ENST00000405006.4	-	21	3499	c.3148C>A	c.(3148-3150)Ctg>Atg	p.L1050M	THADA_ENST00000415080.2_Missense_Mutation_p.L760M|THADA_ENST00000330266.7_Missense_Mutation_p.L760M|THADA_ENST00000405975.2_Missense_Mutation_p.L1050M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1050							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAACATACCAGCACCATCTGC	0.403													False	0	False	2:43768414	0	T	43768414	G	T	43768414	3	4	88	1	0	0	0	0	1	0	0	0	15922	962	34	3	2785	3	THADA	2	43768414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143195	43768414	199430959	2297	10009											
THADA	63892	broad.mit.edu	37	chr2	43801511	43801511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagtctgaagaatctttaCcatgtactgtaagctttcag	8	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43801511C>T	ENST00000403856.1	-	12	1840	c.1693G>A	c.(1693-1695)Gta>Ata	p.V565I	THADA_ENST00000402360.2_Missense_Mutation_p.V565I|THADA_ENST00000405006.4_Missense_Mutation_p.V565I|THADA_ENST00000404790.1_Missense_Mutation_p.V565I|THADA_ENST00000415080.2_Missense_Mutation_p.V275I|THADA_ENST00000330266.7_Missense_Mutation_p.V275I|THADA_ENST00000405975.2_Missense_Mutation_p.V565I			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	565							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGAATCTTTACCATGTACTGT	0.299													False	0	False	2:43801511	0	T	43801511	C	T	43801511	3	4	88	1	0	0	0	0	1	0	0	0	15922	507	18	2	4280	2	THADA	2	43801511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33097	43801511	199397862	2298	10010											
THADA	63892	broad.mit.edu	37	chr2	43805724	43805724	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atagctaatccagatgtgctCtgtacagtctgtaacagatc	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43805724C>T	ENST00000403856.1	-	10	891	c.744G>A	c.(742-744)caG>caA	p.Q248Q	THADA_ENST00000402360.2_Silent_p.Q248Q|THADA_ENST00000405006.4_Silent_p.Q248Q|THADA_ENST00000404790.1_Silent_p.Q248Q|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000405975.2_Silent_p.Q248Q			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	248							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGATGTGCTCTGTACAGTCT	0.358													False	0	False	2:43805724	0	T	43805724	C	T	43805724	2	4	88	1	0	0	0	0	0	0	0	1	15922	912	32	2		2	THADA	2	43805724	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4213	43805724	199393649	2299	10011											
THADA	63892	broad.mit.edu	37	chr2	43814082	43814082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattcaattcttcctgaagaCgagaagtaaaacggtgcata	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43814082C>T	ENST00000403856.1	-	6	509	c.362G>A	c.(361-363)cGt>cAt	p.R121H	THADA_ENST00000402360.2_Missense_Mutation_p.R121H|THADA_ENST00000405006.4_Missense_Mutation_p.R121H|THADA_ENST00000404790.1_Missense_Mutation_p.R121H|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000405975.2_Missense_Mutation_p.R121H			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	121							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTCCTGAAGACGAGAAGTAAA	0.348													False	0	False	2:43814082	0	T	43814082	C	T	43814082	3	4	88	1	0	0	0	0	1	0	0	0	15922	536	19	1	5635	1	THADA	2	43814082	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8358	43814082	199385291	2300	10012											
PLEKHH2	130271	broad.mit.edu	37	chr2	43922354	43922354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agataagaacaatgcagtcaAaactacaaggtacaaatact	6	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43922354A>G	ENST00000282406.4	+	6	603	c.493A>G	c.(493-495)Aaa>Gaa	p.K165E		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	165						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATGCAGTCAAAACTACAAGG	0.308													False	0	True	2:43922354	0	G	43922354	A	G	43922354	3	3	88	1	0	0	0	0	1	0	0	0	12146	15	1	4	511	4	PLEKHH2	2	43922354	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108272	43922354	199277019	2301	10013											
PLEKHH2	130271	broad.mit.edu	37	chr2	43924345	43924345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcatccactgtctctacaCtaaagctttcggaaggccag	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43924345C>A	ENST00000282406.4	+	7	648	c.538C>A	c.(538-540)Cta>Ata	p.L180I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	180						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTCTCTACACTAAAGCTTTC	0.383													False	0	False	2:43924345	0	A	43924345	C	A	43924345	3	1	88	1	0	0	0	0	1	0	0	0	12146	564	20	3	560	3	PLEKHH2	2	43924345	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1991	43924345	199275028	2302	10014											
PLEKHH2	130271	broad.mit.edu	37	chr2	43939382	43939382	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgaccactgaaaaacacAcatactatctgactgcagat	6	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43939382A>G	ENST00000282406.4	+	15	2430	c.2320A>G	c.(2320-2322)Aca>Gca	p.T774A		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	774	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAAAAACACACATACTATCT	0.383													False	0	True	2:43939382	0	G	43939382	A	G	43939382	3	3	88	1	0	0	0	0	1	0	0	0	12146	159	6	4	2374	4	PLEKHH2	2	43939382	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15037	43939382	199259991	2303	10015											
PLEKHH2	130271	broad.mit.edu	37	chr2	43953531	43953531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccacacattatactatcGttatccatcccaaagaccaa	2	13	0	1	rs146823531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43953531G>A	ENST00000282406.4	+	17	2772	c.2662G>A	c.(2662-2664)Gtt>Att	p.V888I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	888	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTATACTATCGTTATCCATCC	0.398													False	0	False	2:43953531	0	A	43953531	G	A	43953531	3	1	88	1	0	0	0	0	1	0	0	0	12146	1145	40	1	2724	1	PLEKHH2	2	43953531	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14149	43953531	199245842	2304	10016											
PLEKHH2	130271	broad.mit.edu	37	chr2	43965632	43965632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacagacaagacgaagacaGccacagaatcaaccaggacc	8	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43965632G>A	ENST00000282406.4	+	20	3206	c.3096G>A	c.(3094-3096)caG>caA	p.Q1032Q		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1032	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACGAAGACAGCCACAGAATC	0.363													False	0	False	2:43965632	0	A	43965632	G	A	43965632	2	1	88	1	0	0	0	0	0	0	0	1	12146	962	34	2		2	PLEKHH2	2	43965632	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12101	43965632	199233741	2305	10017											
PLEKHH2	130271	broad.mit.edu	37	chr2	43970029	43970029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgccctttagtatacCtgtgcacttcatgaatggga	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43970029C>T	ENST00000282406.4	+	22	3481	c.3371C>T	c.(3370-3372)cCt>cTt	p.P1124L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1124	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTAGTATACCTGTGCACTTC	0.413													False	0	False	2:43970029	0	T	43970029	C	T	43970029	3	4	88	1	0	0	0	0	1	0	0	0	12146	681	24	2	3453	2	PLEKHH2	2	43970029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4397	43970029	199229344	2306	10018											
PLEKHH2	130271	broad.mit.edu	37	chr2	43973084	43973084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtacaaggactgttcGtctgacatacaaaaacaggt	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43973084G>A	ENST00000282406.4	+	24	3745	c.3635G>A	c.(3634-3636)cGt>cAt	p.R1212H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1212	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGGACTGTTCGTCTGACATAC	0.373													False	0	False	2:43973084	0	A	43973084	G	A	43973084	3	1	88	1	0	0	0	0	1	0	0	0	12146	1145	40	1	3725	1	PLEKHH2	2	43973084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3055	43973084	199226289	2307	10019											
ABCG5	64240	broad.mit.edu	37	chr2	44051455	44051455	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttcattctttcaatatTcttcaaagttttatgacaaa	4	6	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44051455T>A	ENST00000405322.1	-	5	1404	c.508A>T	c.(508-510)Aat>Tat	p.N170Y	ABCG5_ENST00000260645.1_Missense_Mutation_p.N341Y|ABCG5_ENST00000543989.1_Intron			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	341	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTTTCAATATTCTTCAAAGTT	0.388													False	0	False	2:44051455	0	A	44051455	T	A	44051455	3	1	88	1	0	0	0	0	1	0	0	0	71	1783	62	5	958	5	ABCG5	2	44051455	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78371	44051455	199147918	2308	10020											
LRPPRC	10128	broad.mit.edu	37	chr2	44121724	44121724	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatgcttcttccttttcAtttaattcaggaatcaattc	4	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44121724A>G	ENST00000260665.7	-	36	4002	c.3945T>C	c.(3943-3945)aaT>aaC	p.N1315N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1315	RNA-binding.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTCCTTTTCATTTAATTCAG	0.269													False	0	True	2:44121724	0	G	44121724	A	G	44121724	2	3	88	1	0	0	0	0	0	0	0	1	9027	214	8	4		4	LRPPRC	2	44121724	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70269	44121724	199077649	2309	10021											
LRPPRC	10128	broad.mit.edu	37	chr2	44132886	44132886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcggctgttggcagcatcGttcagtgtgaagcccttgat	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44132886G>A	ENST00000260665.7	-	31	3366	c.3309C>T	c.(3307-3309)aaC>aaT	p.N1103N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1103					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGCAGCATCGTTCAGTGTGA	0.443													False	0	False	2:44132886	0	A	44132886	G	A	44132886	2	1	88	1	0	0	0	0	0	0	0	1	9027	1136	40	1		1	LRPPRC	2	44132886	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11162	44132886	199066487	2310	10022											
SLC3A1	6519	broad.mit.edu	37	chr2	44502742	44502742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatgccagacaaacaacgGgtttgtccataatgaagaca	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44502742G>T	ENST00000260649.6	+	1	144	c.68G>T	c.(67-69)gGg>gTg	p.G23V	SLC3A1_ENST00000409229.3_Missense_Mutation_p.G23V|SLC3A1_ENST00000410056.3_Missense_Mutation_p.G23V|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G23V|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G23V	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	23					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ACAAACAACGGGTTTGTCCAT	0.517													False	0	True	2:44502742	0	T	44502742	G	T	44502742	3	4	88	1	0	0	0	0	1	0	0	0	14706	1232	43	3	70	3	SLC3A1	2	44502742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	369856	44502742	198696631	2311	10023											
SLC3A1	6519	broad.mit.edu	37	chr2	44508543	44508543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggtttaaaattaatcatcGatttcataccaaaccacacg	4	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44508543G>A	ENST00000260649.6	+	3	704	c.628G>A	c.(628-630)Gat>Aat	p.D210N	SLC3A1_ENST00000409229.3_Missense_Mutation_p.D210N|SLC3A1_ENST00000410056.3_Missense_Mutation_p.D210N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D210N|SLC3A1_ENST00000409387.1_Missense_Mutation_p.D210N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	210					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ATTAATCATCGATTTCATACC	0.348													False	0	False	2:44508543	0	A	44508543	G	A	44508543	3	1	88	1	0	0	0	0	1	0	0	0	14706	1058	37	1	638	1	SLC3A1	2	44508543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5801	44508543	198690830	2312	10024											
SLC3A1	6519	broad.mit.edu	37	chr2	44547732	44547732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagatgctttgtttccaatcGagcatgctattccagtgtac	8	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44547732G>A	ENST00000260649.6	+	10	2088	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q	PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R393Q|PREPL_ENST00000409957.1_3'UTR|SLC3A1_ENST00000409740.3_Missense_Mutation_p.R302Q|PREPL_ENST00000541738.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	671					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GTTTCCAATCGAGCATGCTAT	0.418													False	0	False	2:44547732	0	A	44547732	G	A	44547732	3	1	88	1	0	0	0	0	1	0	0	0	14706	1058	37	1	2050	1	SLC3A1	2	44547732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39189	44547732	198651641	2313	10025											
SIX3	6496	broad.mit.edu	37	chr2	45169609	45169609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtggcccccggggcgtgCgaggccatcaacaaacacga	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45169609C>T	ENST00000260653.3	+	1	708	c.366C>T	c.(364-366)tgC>tgT	p.C122C		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	122					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCGGGGCGTGCGAGGCCATCA	0.682													False	0	False	2:45169609	0	T	45169609	C	T	45169609	2	4	88	1	0	0	0	0	0	0	0	1	14429	776	27	1		1	SIX3	2	45169609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	621877	45169609	198029764	2314	10026											
SIX3	6496	broad.mit.edu	37	chr2	45169644	45169644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgagtcgatcctgcgcgCgcgcgccgtggtcgccttcc	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45169644C>T	ENST00000260653.3	+	1	743	c.401C>T	c.(400-402)gCg>gTg	p.A134V		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	134					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATCCTGCGCGCGCGCGCCGTG	0.667													False	0	True	2:45169644	0	T	45169644	C	T	45169644	3	4	88	1	0	0	0	0	1	0	0	0	14429	768	27	1	403	1	SIX3	2	45169644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	45169644	198029729	2315	10027											
SRBD1	55133	broad.mit.edu	37	chr2	45645577	45645577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaggattttgggcccaGccctttcactttcttcagct	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45645577G>T	ENST00000263736.4	-	18	2322	c.2260C>A	c.(2260-2262)Ctg>Atg	p.L754M	SRBD1_ENST00000535761.1_Missense_Mutation_p.L273M|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	754					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTGGGCCCAGCCCTTTCACT	0.423													False	0	True	2:45645577	0	T	45645577	G	T	45645577	3	4	88	1	0	0	0	0	1	0	0	0	15215	962	34	3	743	3	SRBD1	2	45645577	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	475933	45645577	197553796	2316	10028											
SRBD1	55133	broad.mit.edu	37	chr2	45715393	45715393	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctgcacttctcaaaTtagggtccagccctggcatc	7	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45715393T>G	ENST00000263736.4	-	15	2014	c.1952A>C	c.(1951-1953)aAt>aCt	p.N651T	SRBD1_ENST00000535761.1_Missense_Mutation_p.N170T	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	651					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ACTTCTCAAATTAGGGTCCAG	0.413													False	0	True	2:45715393	0	G	45715393	T	G	45715393	3	3	88	1	0	0	0	0	1	0	0	0	15215	1493	52	4	1063	4	SRBD1	2	45715393	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69816	45715393	197483980	2317	10029											
PRKCE	5581	broad.mit.edu	37	chr2	46234679	46234679	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggagcaccgggcagcatcgtCtcctgatggccagctgatga	14	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46234679C>T	ENST00000306156.3	+	9	1469	c.1142C>T	c.(1141-1143)tCt>tTt	p.S381F	PRKCE_ENST00000394874.1_Missense_Mutation_p.S104F	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	381					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GCAGCATCGTCTCCTGATGGC	0.542													False	0	False	2:46234679	0	T	46234679	C	T	46234679	3	4	88	1	0	0	0	0	1	0	0	0	12587	913	32	2	1176	2	PRKCE	2	46234679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	519286	46234679	196964694	2318	10030											
EPAS1	2034	broad.mit.edu	37	chr2	46603819	46603819	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtaacttcctattcaccaaGctaaaggaggagcccgagga	10	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46603819G>T	ENST00000263734.3	+	9	1686	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	392					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TATTCACCAAGCTAAAGGAGG	0.562													False	0	False	2:46603819	0	T	46603819	G	T	46603819	3	4	88	1	0	0	0	0	1	0	0	0	5182	962	34	3	1210	3	EPAS1	2	46603819	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	369140	46603819	196595554	2319	10031											
EPAS1	2034	broad.mit.edu	37	chr2	46605085	46605085	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcaaggccatcctgcccccGagccagccatgggccacgga	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46605085G>A	ENST00000263734.3	+	10	1812	c.1302G>A	c.(1300-1302)ccG>ccA	p.P434P		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	434					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCCTGCCCCCGAGCCAGCCAT	0.662													False	0	True	2:46605085	0	A	46605085	G	A	46605085	2	1	88	1	0	0	0	0	0	0	0	1	5182	1045	37	1		1	EPAS1	2	46605085	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1266	46605085	196594288	2320	10032											
EPAS1	2034	broad.mit.edu	37	chr2	46605830	46605830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agactattacacatctttggAtaacgacctgaagattgaag	8	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46605830A>G	ENST00000263734.3	+	11	1988	c.1478A>G	c.(1477-1479)gAt>gGt	p.D493G		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	493					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACATCTTTGGATAACGACCTG	0.517													False	0	False	2:46605830	0	G	46605830	A	G	46605830	3	3	88	1	0	0	0	0	1	0	0	0	5182	333	12	4	1520	4	EPAS1	2	46605830	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	745	46605830	196593543	2321	10033											
EPAS1	2034	broad.mit.edu	37	chr2	46607801	46607801	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgcacagagttcttgggaGcagcgccgttggggccccct	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46607801G>T	ENST00000263734.3	+	12	2500	c.1990G>T	c.(1990-1992)Gca>Tca	p.A664S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	664					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTTCTTGGGAGCAGCGCCGTT	0.602													False	0	False	2:46607801	0	T	46607801	G	T	46607801	3	4	88	1	0	0	0	0	1	0	0	0	5182	971	34	3	2036	3	EPAS1	2	46607801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1971	46607801	196591572	2322	10034											
EPAS1	2034	broad.mit.edu	37	chr2	46608739	46608739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgggcttggcaggtctGcaaagggttttggggctcga	16	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46608739G>A	ENST00000263734.3	+	13	2560	c.2050G>A	c.(2050-2052)Gca>Aca	p.A684T		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	684					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGGCAGGTCTGCAAAGGGTTT	0.582													False	0	False	2:46608739	0	A	46608739	G	A	46608739	3	1	88	1	0	0	0	0	1	0	0	0	5182	1319	46	2	2100	2	EPAS1	2	46608739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	938	46608739	196590634	2323	10035											
EPAS1	2034	broad.mit.edu	37	chr2	46609140	46609140	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctggtggcagcacctcAcatttgatgtggaaacggat	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46609140A>G	ENST00000263734.3	+	14	2709	c.2199A>G	c.(2197-2199)tcA>tcG	p.S733S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	733					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCAGCACCTCACATTTGATGT	0.592													False	0	False	2:46609140	0	G	46609140	A	G	46609140	2	3	88	1	0	0	0	0	0	0	0	1	5182	146	6	4		4	EPAS1	2	46609140	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	401	46609140	196590233	2324	10036											
SOCS5	0	broad.mit.edu	37	chr2	46986474	46986474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggcttagagagagaaggCggcttagtattgaagaaggg	16	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46986474C>T	ENST00000306503.5	+	2	977	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	SOCS5_ENST00000394861.2_Missense_Mutation_p.R269W	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	269					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGAGAGAAGGCGGCTTAGTAT	0.408													False	0	False	2:46986474	0	T	46986474	C	T	46986474	3	4	88	1	0	0	0	0	1	0	0	0	14997	759	27	1	807	1	SOCS5	2	46986474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	377334	46986474	196212899	2325	10037											
SOCS5	0	broad.mit.edu	37	chr2	46987060	46987060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acattataaagatcccagttCgtgcatgttttttgaaccat	6	8	0	2	rs149307689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46987060C>T	ENST00000306503.5	+	2	1563	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	SOCS5_ENST00000394861.2_Missense_Mutation_p.S464L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	464	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			p.S464L(3)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GATCCCAGTTCGTGCATGTTT	0.438													False	0	False	2:46987060	0	T	46987060	C	T	46987060	3	4	88	1	0	0	0	0	1	0	0	0	14997	893	31	1	1393	1	SOCS5	2	46987060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	586	46987060	196212313	2326	10038											
TTC7A	57217	broad.mit.edu	37	chr2	47221507	47221507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccagatggcggccaaGcacctggcgggggtcctgct	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:47221507G>T	ENST00000319190.5	+	7	1223	c.855G>T	c.(853-855)aaG>aaT	p.K285N	TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.K251N|TTC7A_ENST00000394850.2_Missense_Mutation_p.K285N	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	285							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGGCGGCCAAGCACCTGGCGG	0.617													False	0	False	2:47221507	0	T	47221507	G	T	47221507	3	4	88	1	0	0	0	0	1	0	0	0	16796	962	34	3	881	3	TTC7A	2	47221507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234447	47221507	195977866	2327	10039											
MSH2	4436	broad.mit.edu	37	chr2	47693796	47693796	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttcttcttgattatcaaGgcttggaccctggcaaacag	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:47693796G>T	ENST00000406134.1	+	10	1572		c.e10-1		MSH2_ENST00000543555.1_Splice_Site|MSH2_ENST00000233146.2_Splice_Site			P43246	MSH2_HUMAN	mutS homolog 2						B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATTATCAAGGCTTGGACCC	0.308			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	False	2:47693796	0	T	47693796	G	T	47693796	5	4	88	1	0	0	0	0	0	0	1	0	9937	1014	35	3	1548	3	MSH2	2	47693796	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	472289	47693796	195505577	2328	10040											
MSH6	2956	broad.mit.edu	37	chr2	48018178	48018178	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattcatccgcgagaaagggAaatcagtccgtgttcatgta	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48018178A>T	ENST00000234420.5	+	2	525	c.373A>T	c.(373-375)Aaa>Taa	p.K125*	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_5'UTR	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6		PWWP.				determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGAGAAAGGGAAATCAGTCCG	0.478			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	True	2:48018178	0	T	48018178	A	T	48018178	4	4	88	1	0	0	0	0	0	1	0	0	9941	247	9	5	379	5	MSH6	2	48018178	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	324382	48018178	195181195	2329	10041											
MSH6	2956	broad.mit.edu	37	chr2	48026622	48026622	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgatgtagaaagatggcAcatatatccaagtatgatag	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48026622A>C	ENST00000234420.5	+	4	1652	c.1500A>C	c.(1498-1500)gcA>gcC	p.A500A	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.A370A|MSH6_ENST00000538136.1_Silent_p.A198A	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAAGATGGCACATATATCCA	0.473			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	False	2:48026622	0	C	48026622	A	C	48026622	2	2	88	1	0	0	0	0	0	0	0	1	9941	146	6	4		4	MSH6	2	48026622	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8444	48026622	195172751	2330	10042											
MSH6	2956	broad.mit.edu	37	chr2	48030670	48030670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagagcttaaaggatcacGccatccttgcattacgaaga	8	10	1	2	rs63750253		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48030670G>A	ENST00000234420.5	+	5	3436	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.R965H|MSH6_ENST00000538136.1_Missense_Mutation_p.R793H	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6				R -> H (in CRC; uncertain pathogenicity).		determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.R1095H(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGGATCACGCCATCCTTGC	0.458			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	False	2:48030670	0	A	48030670	G	A	48030670	3	1	88	1	0	0	0	0	1	0	0	0	9941	1087	38	1	3302	1	MSH6	2	48030670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4048	48030670	195168703	2331	10043											
MSH6	2956	broad.mit.edu	37	chr2	48033396	48033396	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagcaaatgcagttgttaaaGaacttgctgagactataaaa	8	5	0	2	rs35717727	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48033396G>T	ENST00000234420.5	+	8	3852	c.3700G>T	c.(3700-3702)Gaa>Taa	p.E1234*	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1104*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E932*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6				E -> Q (in dbSNP:rs35717727).		determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTTGTTAAAGAACTTGCTGA	0.343			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	True	2:48033396	0	T	48033396	G	T	48033396	4	4	88	1	0	0	0	0	0	1	0	0	9941	943	33	3	3730	3	MSH6	2	48033396	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2726	48033396	195165977	2332	10044											
FBXO11	80204	broad.mit.edu	37	chr2	48037464	48037464	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacaaacctgcggcaaAtccatcaaatattctgtttt	4	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48037464A>G	ENST00000403359.3	-	19	2401	c.2329T>C	c.(2329-2331)Ttt>Ctt	p.F777L	FBXO11_ENST00000402508.1_Missense_Mutation_p.F693L|FBXO11_ENST00000434523.2_Missense_Mutation_p.F201L|FBXO11_ENST00000316377.4_Missense_Mutation_p.F693L	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	777					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTGCGGCAAATCCATCAAAT	0.333			"Mis, F, D"		DLBCL								False	0	True	2:48037464	0	G	48037464	A	G	48037464	3	3	88	1	0	0	0	0	1	0	0	0	5767	101	4	4	474	4	FBXO11	2	48037464	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4068	48037464	195161909	2333	10045											
STON1	11037	broad.mit.edu	37	chr2	48808368	48808368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattcccatttcacccttgAcccaccaggaagcaaaaaga	6	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48808368A>G	ENST00000309835.3	+	1	606	c.596A>G	c.(595-597)gAc>gGc	p.D199G	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D199G|STON1_ENST00000406226.1_Missense_Mutation_p.D199G|STON1_ENST00000404752.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D199G|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D199G					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCACCCTTGACCCACCAGGA	0.408													False	0	True	2:48808368	0	G	48808368	A	G	48808368	3	3	88	1	0	0	0	0	1	0	0	0	15398	275	10	4	598	4	STON1	2	48808368	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	770904	48808368	194391005	2334	10046											
STON1	11037	broad.mit.edu	37	chr2	48808780	48808780	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttctgaacccaaggttgaGaacttcagtgtagcaggaaa	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48808780G>T	ENST00000309835.3	+	1	1018	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E336D|STON1_ENST00000406226.1_Missense_Mutation_p.E336D|STON1_ENST00000404752.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E336D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E336D					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAAGGTTGAGAACTTCAGTG	0.368													False	0	False	2:48808780	0	T	48808780	G	T	48808780	3	4	88	1	0	0	0	0	1	0	0	0	15398	933	33	3	1010	3	STON1	2	48808780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	412	48808780	194390593	2335	10047											
STON1	11037	broad.mit.edu	37	chr2	48809668	48809668	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcctaccaggcagtggtAtggaagatagatcggcttcc	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48809668A>G	ENST00000309835.3	+	1	1906	c.1896A>G	c.(1894-1896)gtA>gtG	p.V632V	STON1-GTF2A1L_ENST00000394751.3_Silent_p.V632V|STON1_ENST00000406226.1_Silent_p.V632V|STON1_ENST00000404752.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000405008.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000394754.1_Silent_p.V632V|STON1-GTF2A1L_ENST00000402114.2_Silent_p.V632V|STON1-GTF2A1L_ENST00000309827.2_Silent_p.V632V					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGCAGTGGTATGGAAGATAG	0.418													False	0	False	2:48809668	0	G	48809668	A	G	48809668	2	3	88	1	0	0	0	0	0	0	0	1	15398	436	16	4		4	STON1	2	48809668	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	888	48809668	194389705	2336	10048											
LHCGR	3973	broad.mit.edu	37	chr2	48921388	48921388	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgttattcactttccttaCtgtgctttcacattgtttgg	6	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48921388C>A	ENST00000294954.7	-	10	943	c.922G>T	c.(922-924)Gta>Tta	p.V308L	LHCGR_ENST00000405626.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.V246L|LHCGR_ENST00000403273.1_Missense_Mutation_p.V308L|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.V308L	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	308					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACTTTCCTTACTGTGCTTTCA	0.338													False	0	False	2:48921388	0	A	48921388	C	A	48921388	3	1	88	1	0	0	0	0	1	0	0	0	8814	565	20	3	1185	3	LHCGR	2	48921388	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111720	48921388	194277985	2337	10049											
FSHR	0	broad.mit.edu	37	chr2	49195960	49195960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagtcgacctggccctcAgcttcttaagattttctaag	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:49195960A>G	ENST00000406846.2	-	9	850	c.731T>C	c.(730-732)cTg>cCg	p.L244P	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.L218P|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Intron	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	244					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CCTGGCCCTCAGCTTCTTAAG	0.438									Gonadal Dysgenesis, 46 XX				False	0	False	2:49195960	0	G	49195960	A	G	49195960	3	3	88	1	0	0	0	0	1	0	0	0	6115	188	7	4	1364	4	FSHR	2	49195960	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	274572	49195960	194003413	2338	10050											
NRXN1	9378	broad.mit.edu	37	chr2	50149333	50149333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtgctgctggactcccGgatcacttctgctgagcctg	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:50149333G>A	ENST00000404971.1	-	24	5732	c.4393C>T	c.(4393-4395)Cgg>Tgg	p.R1465W	NRXN1_ENST00000401669.2_Missense_Mutation_p.R1425W|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1395W|NRXN1_ENST00000401710.1_Missense_Mutation_p.R413W|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1417W|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1417W|NRXN1_ENST00000342183.5_Missense_Mutation_p.R360W|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1395W	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1395					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGGACTCCCGGATCACTTCT	0.537													False	0	True	2:50149333	0	A	50149333	G	A	50149333	3	1	88	1	0	0	0	0	1	0	0	0	10733	1115	39	1	254	1	NRXN1	2	50149333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	953373	50149333	193050040	2339	10051											
NRXN1	9378	broad.mit.edu	37	chr2	50724826	50724826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctatgttatggaactccaGcctagtatgatcacctgcca	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:50724826G>A	ENST00000404971.1	-	15	3983	c.2644C>T	c.(2644-2646)Ctg>Ttg	p.L882L	NRXN1_ENST00000401669.2_Silent_p.L842L|NRXN1_ENST00000406859.3_Silent_p.L842L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.L834L|NRXN1_ENST00000405472.3_Silent_p.L834L|NRXN1_ENST00000406316.2_Silent_p.L842L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	842	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGAACTCCAGCCTAGTATGA	0.388													False	0	False	2:50724826	0	A	50724826	G	A	50724826	2	1	88	1	0	0	0	0	0	0	0	1	10733	962	34	2		2	NRXN1	2	50724826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	575493	50724826	192474547	2340	10052											
NRXN1	9378	broad.mit.edu	37	chr2	51255063	51255063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactggcggcggatgcgcaCgctgtgccaggcgccgtcgt	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:51255063C>T	ENST00000404971.1	-	2	1688	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	NRXN1_ENST00000401669.2_Missense_Mutation_p.V117M|NRXN1_ENST00000406859.3_Missense_Mutation_p.V117M|NRXN1_ENST00000405581.1_Missense_Mutation_p.V117M|NRXN1_ENST00000402717.3_Missense_Mutation_p.V117M|NRXN1_ENST00000405472.3_Missense_Mutation_p.V117M|NRXN1_ENST00000406316.2_Missense_Mutation_p.V117M	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	117	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGGATGCGCACGCTGTGCCAG	0.667													False	0	False	2:51255063	0	T	51255063	C	T	51255063	3	4	88	1	0	0	0	0	1	0	0	0	10733	536	19	1	4649	1	NRXN1	2	51255063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	530237	51255063	191944310	2341	10053											
NRXN1	9378	broad.mit.edu	37	chr2	51255298	51255298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggggaagcgcgtccattgGccctcggcgcccggaaactc	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:51255298G>A	ENST00000404971.1	-	2	1453	c.114C>T	c.(112-114)ggC>ggT	p.G38G	NRXN1_ENST00000401669.2_Silent_p.G38G|NRXN1_ENST00000406859.3_Silent_p.G38G|NRXN1_ENST00000405581.1_Silent_p.G38G|NRXN1_ENST00000402717.3_Silent_p.G38G|NRXN1_ENST00000405472.3_Silent_p.G38G|NRXN1_ENST00000406316.2_Silent_p.G38G	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	38	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGTCCATTGGCCCTCGGCGC	0.677													False	0	True	2:51255298	0	A	51255298	G	A	51255298	2	1	88	1	0	0	0	0	0	0	0	1	10733	1190	42	2		2	NRXN1	2	51255298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235	51255298	191944075	2342	10054											
PSME4	23198	broad.mit.edu	37	chr2	54117259	54117259	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacaggatgttgctatacaAgctccccagtcattataagt	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54117259A>G	ENST00000404125.1	-	37	4333	c.4278T>C	c.(4276-4278)gcT>gcC	p.A1426A	PSME4_ENST00000421748.2_Silent_p.A570A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1426					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGCTATACAAGCTCCCCAGT	0.398													False	0	False	2:54117259	0	G	54117259	A	G	54117259	2	3	88	1	0	0	0	0	0	0	0	1	12785	59	3	4		4	PSME4	2	54117259	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2861961	54117259	189082114	2343	10055											
PSME4	23198	broad.mit.edu	37	chr2	54127092	54127092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgggctaagcaatatctgGttgatagaggggttttttga	13	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54127092G>A	ENST00000404125.1	-	29	3403	c.3348C>T	c.(3346-3348)aaC>aaT	p.N1116N	PSME4_ENST00000421748.2_Silent_p.N260N	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1116					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCAATATCTGGTTGATAGAGG	0.348													False	0	False	2:54127092	0	A	54127092	G	A	54127092	2	1	88	1	0	0	0	0	0	0	0	1	12785	1252	44	2		2	PSME4	2	54127092	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9833	54127092	189072281	2344	10056											
PSME4	23198	broad.mit.edu	37	chr2	54133798	54133798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcttgatgtatctttttGtattcacaaccctcaacagt	4	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54133798G>A	ENST00000404125.1	-	26	2935	c.2880C>T	c.(2878-2880)taC>taT	p.Y960Y	PSME4_ENST00000421748.2_Silent_p.Y104Y	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	960					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTATCTTTTTGTATTCACAAC	0.358													False	0	True	2:54133798	0	A	54133798	G	A	54133798	2	1	88	1	0	0	0	0	0	0	0	1	12785	1372	48	2		2	PSME4	2	54133798	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6706	54133798	189065575	2345	10057											
PSME4	23198	broad.mit.edu	37	chr2	54159848	54159848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtaaaaagatgtgatgCtgttaaacaaaccagctaag	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54159848C>T	ENST00000404125.1	-	9	1062	c.1007G>A	c.(1006-1008)aGc>aAc	p.S336N	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	336					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGATGTGATGCTGTTAAACAA	0.383													False	0	False	2:54159848	0	T	54159848	C	T	54159848	3	4	88	1	0	0	0	0	1	0	0	0	12785	797	28	2	4676	2	PSME4	2	54159848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26050	54159848	189039525	2346	10058											
TSPYL6	388951	broad.mit.edu	37	chr2	54483194	54483194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctgccattacctctgtcGccttgctcttttctcgggac	7	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54483194G>A	ENST00000317802.7	-	1	215	c.95C>T	c.(94-96)gCg>gTg	p.A32V	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	32					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TACCTCTGTCGCCTTGCTCTT	0.622													False	0	False	2:54483194	0	A	54483194	G	A	54483194	3	1	88	1	0	0	0	0	1	0	0	0	16746	1087	38	1	1141	1	TSPYL6	2	54483194	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	323346	54483194	188716179	2347	10059											
SPTBN1	0	broad.mit.edu	37	chr2	54753662	54753662	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgggacaatgagaacagctCtgcgcggctttttgagcggt	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54753662C>T	ENST00000356805.4	+	2	388	c.107C>T	c.(106-108)tCt>tTt	p.S36F	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	36	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGAACAGCTCTGCGCGGCTT	0.537													False	0	False	2:54753662	0	T	54753662	C	T	54753662	3	4	88	1	0	0	0	0	1	0	0	0	15201	913	32	2	109	2	SPTBN1	2	54753662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	270468	54753662	188445711	2348	10060											
SPTBN1	0	broad.mit.edu	37	chr2	54856651	54856651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgtggcggaagagatcGccaattacaggcccaccctt	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54856651G>A	ENST00000333896.5	+	13	2726	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	SPTBN1_ENST00000356805.4_Missense_Mutation_p.A794T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	794					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAAGAGATCGCCAATTACAG	0.597													False	0	False	2:54856651	0	A	54856651	G	A	54856651	3	1	88	1	0	0	0	0	1	0	0	0	15201	1087	38	1	2543	1	SPTBN1	2	54856651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102989	54856651	188342722	2349	10061											
SPTBN1	0	broad.mit.edu	37	chr2	54874327	54874327	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttagaacaagctgtggaGgactatgcagagaccgtgca	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54874327G>T	ENST00000333896.5	+	23	5272	c.4887G>T	c.(4885-4887)gaG>gaT	p.E1629D	SPTBN1_ENST00000356805.4_Missense_Mutation_p.E1642D	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1642	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAGCTGTGGAGGACTATGCAG	0.557													False	0	False	2:54874327	0	T	54874327	G	T	54874327	3	4	88	1	0	0	0	0	1	0	0	0	15201	991	35	3	5129	3	SPTBN1	2	54874327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17676	54874327	188325046	2350	10062											
RTN4	57142	broad.mit.edu	37	chr2	55252338	55252338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactttgggtttaactatgCtctctatctctgcttgagtg	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55252338C>T	ENST00000337526.6	-	3	3140	c.2897G>A	c.(2896-2898)aGc>aAc	p.S966N	RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.S734N|RTN4_ENST00000405240.1_Missense_Mutation_p.S760N|RTN4_ENST00000357376.3_Missense_Mutation_p.S760N|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.S760N|RTN4_ENST00000404909.1_Missense_Mutation_p.S760N	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	966					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTTAACTATGCTCTCTATCTC	0.403													False	0	True	2:55252338	0	T	55252338	C	T	55252338	3	4	88	1	0	0	0	0	1	0	0	0	13807	797	28	2	747	2	RTN4	2	55252338	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	378011	55252338	187947035	2351	10063											
RTN4	57142	broad.mit.edu	37	chr2	55253303	55253303	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttttatgctttcataattAactgaagaagcttctaatgg	7	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55253303A>G	ENST00000337526.6	-	3	2175	c.1932T>C	c.(1930-1932)gtT>gtC	p.V644V	RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Silent_p.V412V|RTN4_ENST00000405240.1_Silent_p.V438V|RTN4_ENST00000357376.3_Silent_p.V438V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Silent_p.V438V|RTN4_ENST00000404909.1_Silent_p.V438V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	644					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTTCATAATTAACTGAAGAAG	0.408													False	0	False	2:55253303	0	G	55253303	A	G	55253303	2	3	88	1	0	0	0	0	0	0	0	1	13807	349	13	4		4	RTN4	2	55253303	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	965	55253303	187946070	2352	10064											
CCDC88A	55704	broad.mit.edu	37	chr2	55589552	55589552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtcacttccatccattgCaggtcaaacacattttcctg	5	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55589552C>T	ENST00000436346.1	-	7	1360	c.519G>A	c.(517-519)ctG>ctA	p.L173L	CCDC88A_ENST00000413716.2_Silent_p.L173L|CCDC88A_ENST00000263630.8_Silent_p.L173L|CCDC88A_ENST00000336838.6_Silent_p.L173L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	173					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCATCCATTGCAGGTCAAACA	0.343													False	0	False	2:55589552	0	T	55589552	C	T	55589552	2	4	88	1	0	0	0	0	0	0	0	1	2884	697	25	2		2	CCDC88A	2	55589552	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	336249	55589552	187609821	2353	10065											
CCDC104	112942	broad.mit.edu	37	chr2	55756108	55756108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgcagctgcaagccattcGaataattcaagagagaaatg	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55756108G>A	ENST00000349456.4	+	4	525	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	CCDC104_ENST00000406691.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.R151Q|CCDC104_ENST00000407816.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000403007.3_Missense_Mutation_p.R126Q			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	126								p.R126Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAAGCCATTCGAATAATTCAA	0.333													False	0	False	2:55756108	0	A	55756108	G	A	55756108	3	1	88	1	0	0	0	0	1	0	0	0	2759	1058	37	1	391	1	CCDC104	2	55756108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166556	55756108	187443265	2354	10066											
CCDC104	112942	broad.mit.edu	37	chr2	55761032	55761032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattacctgactgcttaaccGatggctctgatgtggtcagt	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55761032G>A	ENST00000349456.4	+	5	569	c.421G>A	c.(421-423)Gat>Aat	p.D141N	CCDC104_ENST00000406691.3_Missense_Mutation_p.D141N|CCDC104_ENST00000339012.3_Missense_Mutation_p.D166N|CCDC104_ENST00000407816.3_Missense_Mutation_p.D141N|CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000403007.3_Missense_Mutation_p.D141N			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	141										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGCTTAACCGATGGCTCTGA	0.358													False	0	False	2:55761032	0	A	55761032	G	A	55761032	3	1	88	1	0	0	0	0	1	0	0	0	2759	1058	37	1	439	1	CCDC104	2	55761032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4924	55761032	187438341	2355	10067											
SMEK2	57223	broad.mit.edu	37	chr2	55825881	55825881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggaataagattcctctaaTaatttcatacaaatggtgta	6	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55825881T>C	ENST00000272313.5	-	4	919	c.592A>G	c.(592-594)Att>Gtt	p.I198V	SMEK2_ENST00000345102.5_Missense_Mutation_p.I198V|SMEK2_ENST00000407823.3_Missense_Mutation_p.I198V	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	198						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATTCCTCTAATAATTTCATAC	0.383													False	0	False	2:55825881	0	C	55825881	T	C	55825881	3	2	88	1	0	0	0	0	1	0	0	0	14874	1406	49	4	2013	4	SMEK2	2	55825881	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64849	55825881	187373492	2356	10068											
SMEK2	57223	broad.mit.edu	37	chr2	55825941	55825941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctcgcaagcttggaacaGctgcaatagttttttaatat	8	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55825941G>A	ENST00000272313.5	-	4	859	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	SMEK2_ENST00000345102.5_Silent_p.L178L|SMEK2_ENST00000407823.3_Silent_p.L178L	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	178						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTTGGAACAGCTGCAATAGT	0.398													False	0	False	2:55825941	0	A	55825941	G	A	55825941	2	1	88	1	0	0	0	0	0	0	0	1	14874	962	34	2		2	SMEK2	2	55825941	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	55825941	187373432	2357	10069											
PNPT1	87178	broad.mit.edu	37	chr2	55871818	55871818	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttatagccaccaggtccaacAaattttgctcgttttgataa	6	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55871818A>T	ENST00000447944.2	-	23	1946	c.1860T>A	c.(1858-1860)ttT>ttA	p.F620L		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	620	KH.				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGGTCCAACAAATTTTGCTC	0.333													False	0	True	2:55871818	0	T	55871818	A	T	55871818	3	4	88	1	0	0	0	0	1	0	0	0	12242	127	5	5	515	5	PNPT1	2	55871818	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45877	55871818	187327555	2358	10070											
PNPT1	87178	broad.mit.edu	37	chr2	55874502	55874502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaatatctgtcagcaaacGataatcttctatttcaccct	3	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55874502G>A	ENST00000447944.2	-	19	1668	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	528					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTCAGCAAACGATAATCTTCT	0.313													False	0	False	2:55874502	0	A	55874502	G	A	55874502	3	1	88	1	0	0	0	0	1	0	0	0	12242	1058	37	1	809	1	PNPT1	2	55874502	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2684	55874502	187324871	2359	10071											
EFEMP1	2202	broad.mit.edu	37	chr2	56094228	56094228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaatgaaaatggccccaCtattattgtcaatcttaaca	4	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56094228C>T	ENST00000394555.2	-	11	1897	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	EFEMP1_ENST00000424836.2_Missense_Mutation_p.V350M|EFEMP1_ENST00000394554.1_Missense_Mutation_p.V488M|EFEMP1_ENST00000355426.3_Missense_Mutation_p.V488M	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	488	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATGGCCCCACTATTATTGTC	0.383													False	0	False	2:56094228	0	T	56094228	C	T	56094228	3	4	88	1	0	0	0	0	1	0	0	0	4971	565	20	2	23	2	EFEMP1	2	56094228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219726	56094228	187105145	2360	10072											
EFEMP1	2202	broad.mit.edu	37	chr2	56094325	56094325	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgttctcttggtcctgaTaatgacttcacgagcacaag	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56094325T>C	ENST00000394555.2	-	11	1800	c.1365A>G	c.(1363-1365)ttA>ttG	p.L455L	EFEMP1_ENST00000424836.2_Silent_p.L317L|EFEMP1_ENST00000394554.1_Silent_p.L455L|EFEMP1_ENST00000355426.3_Silent_p.L455L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	455	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTGGTCCTGATAATGACTTCA	0.403													False	0	False	2:56094325	0	C	56094325	T	C	56094325	2	2	88	1	0	0	0	0	0	0	0	1	4971	1403	49	4		4	EFEMP1	2	56094325	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97	56094325	187105048	2361	10073											
EFEMP1	2202	broad.mit.edu	37	chr2	56098049	56098049	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagactgggcaaacacatcGgctgcagagacaaacaaaag	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56098049G>A	ENST00000394555.2	-	10	1561	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	EFEMP1_ENST00000424836.2_Splice_Site_p.R238*|EFEMP1_ENST00000394554.1_Splice_Site_p.R376*|EFEMP1_ENST00000355426.3_Splice_Site_p.R376*	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	376	EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAAACACATCGGCTGCAGAGA	0.433													False	0	False	2:56098049	0	A	56098049	G	A	56098049	5	1	88	1	0	0	0	0	0	0	1	0	4971	1130	39	1	363	1	EFEMP1	2	56098049	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3724	56098049	187101324	2362	10074											
EFEMP1	2202	broad.mit.edu	37	chr2	56144918	56144918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatgacaaagttatttcgGccagtctgcatttcagggcc	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56144918G>A	ENST00000394555.2	-	4	834	c.399C>T	c.(397-399)ggC>ggT	p.G133G	EFEMP1_ENST00000424836.2_Silent_p.G75G|EFEMP1_ENST00000394554.1_Silent_p.G133G|EFEMP1_ENST00000355426.3_Silent_p.G133G	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	133					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTTATTTCGGCCAGTCTGCA	0.597													False	0	False	2:56144918	0	A	56144918	G	A	56144918	2	1	88	1	0	0	0	0	0	0	0	1	4971	1190	42	2		2	EFEMP1	2	56144918	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46869	56144918	187054455	2363	10075											
EFEMP1	2202	broad.mit.edu	37	chr2	56144958	56144958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgactgcagcagcactgGccacaaaaccacccccgggc	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56144958G>A	ENST00000394555.2	-	4	794	c.359C>T	c.(358-360)gCc>gTc	p.A120V	EFEMP1_ENST00000424836.2_Missense_Mutation_p.A62V|EFEMP1_ENST00000394554.1_Missense_Mutation_p.A120V|EFEMP1_ENST00000355426.3_Missense_Mutation_p.A120V	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	120					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCAGCACTGGCCACAAAACC	0.597													False	0	False	2:56144958	0	A	56144958	G	A	56144958	3	1	88	1	0	0	0	0	1	0	0	0	4971	1203	42	2	1154	2	EFEMP1	2	56144958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40	56144958	187054415	2364	10076											
CCDC85A	114800	broad.mit.edu	37	chr2	56420013	56420013	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacagcccggaccaccacaaGcaccacgcgagcagtggcag	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420013G>T	ENST00000407595.2	+	2	1180	c.678G>T	c.(676-678)aaG>aaT	p.K226N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	226	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCACCACAAGCACCACGCGA	0.687													False	0	False	2:56420013	0	T	56420013	G	T	56420013	3	4	88	1	0	0	0	0	1	0	0	0	2880	962	34	3	684	3	CCDC85A	2	56420013	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275055	56420013	186779360	2365	10077											
CCDC85A	114800	broad.mit.edu	37	chr2	56420234	56420234	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggcacccgcatccagggaGcagccccgaaacgctgccca	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420234G>T	ENST00000407595.2	+	2	1401	c.899G>T	c.(898-900)aGc>aTc	p.S300I	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	300	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATCCAGGGAGCAGCCCCGAA	0.637													False	0	False	2:56420234	0	T	56420234	G	T	56420234	3	4	88	1	0	0	0	0	1	0	0	0	2880	971	34	3	905	3	CCDC85A	2	56420234	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221	56420234	186779139	2366	10078											
CCDC85A	114800	broad.mit.edu	37	chr2	56420278	56420278	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acgtgctgagtgggagcccgGaacacttccagaagcaccgg	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420278G>T	ENST00000407595.2	+	2	1445	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	315	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGGAGCCCGGAACACTTCCA	0.642													False	0	False	2:56420278	0	T	56420278	G	T	56420278	4	4	88	1	0	0	0	0	0	1	0	0	2880	1175	41	3	949	3	CCDC85A	2	56420278	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	56420278	186779095	2367	10079											
BCL11A	53335	broad.mit.edu	37	chr2	60688136	60688136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcgaactccttctcgagCttgatgcgcttagagaaggg	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:60688136C>T	ENST00000335712.6	-	4	2138	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K	BCL11A_ENST00000537768.1_Silent_p.K306K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.K603K|BCL11A_ENST00000356842.4_Silent_p.K637K|BCL11A_ENST00000358510.4_Silent_p.K603K|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	637					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCTTCTCGAGCTTGATGCGCT	0.687			T	IGH@	B-CLL								False	0	False	2:60688136	0	T	60688136	C	T	60688136	2	4	88	1	0	0	0	0	0	0	0	1	1367	796	28	2		2	BCL11A	2	60688136	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4267858	60688136	182511237	2368	10080											
BCL11A	53335	broad.mit.edu	37	chr2	60688595	60688595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcctcctcttcctcctcGtccccgttctccgggatcag	7	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:60688595G>A	ENST00000335712.6	-	4	1679	c.1452C>T	c.(1450-1452)gaC>gaT	p.D484D	BCL11A_ENST00000537768.1_Silent_p.D153D|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.D450D|BCL11A_ENST00000356842.4_Silent_p.D484D|BCL11A_ENST00000358510.4_Silent_p.D450D|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	484	Glu-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			cttcctcctcgtccccgttct	0.632			T	IGH@	B-CLL								False	0	False	2:60688595	0	A	60688595	G	A	60688595	2	1	88	1	0	0	0	0	0	0	0	1	1367	1136	40	1		1	BCL11A	2	60688595	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	459	60688595	182510778	2369	10081											
REL	5966	broad.mit.edu	37	chr2	61145657	61145657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagctatcacagaacccGtaacagtaaaaatgcagttg	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61145657G>A	ENST00000295025.8	+	7	1089	c.769G>A	c.(769-771)Gta>Ata	p.V257I	REL_ENST00000394479.3_Missense_Mutation_p.V257I	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog		RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CACAGAACCCGTAACAGTAAA	0.408			A		Hodgkin Lymphoma								False	0	True	2:61145657	0	A	61145657	G	A	61145657	3	1	88	1	0	0	0	0	1	0	0	0	13294	1145	40	1	795	1	REL	2	61145657	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457062	61145657	182053716	2370	10082											
PUS10	150962	broad.mit.edu	37	chr2	61194641	61194641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgttgacccaatacctttCcatcaatgggaacacccagt	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61194641C>T	ENST00000316752.6	-	6	872	c.611G>A	c.(610-612)gGa>gAa	p.G204E	PUS10_ENST00000407787.1_Missense_Mutation_p.G204E	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	204					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CAATACCTTTCCATCAATGGG	0.373													False	0	True	2:61194641	0	T	61194641	C	T	61194641	3	4	88	1	0	0	0	0	1	0	0	0	12910	855	30	2	1030	2	PUS10	2	61194641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48984	61194641	182004732	2371	10083											
PEX13	5194	broad.mit.edu	37	chr2	61258998	61258998	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atacactttacaaaagtgttTtcagcttttgcattggttag	7	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61258998T>A	ENST00000295030.5	+	2	575	c.537T>A	c.(535-537)ttT>ttA	p.F179L	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13		Interaction with PEX19.|Targeting to peroxisomes.				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			CAAAAGTGTTTTCAGCTTTTG	0.413													False	0	True	2:61258998	0	A	61258998	T	A	61258998	3	1	88	1	0	0	0	0	1	0	0	0	11810	1838	64	5	543	5	PEX13	2	61258998	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64357	61258998	181940375	2372	10084											
KIAA1841	84542	broad.mit.edu	37	chr2	61304140	61304140	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatcttttgatatcagaaAtgaagtactttgctgaatat	8	4	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61304140A>G	ENST00000402291.1	+	6	758	c.517A>G	c.(517-519)Atg>Gtg	p.M173V	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.M173V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.M173V|KIAA1841_ENST00000295031.5_Missense_Mutation_p.M173V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	173										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATATCAGAAATGAAGTACTT	0.383													False	0	True	2:61304140	0	G	61304140	A	G	61304140	3	3	88	1	0	0	0	0	1	0	0	0	8311	101	4	4	531	4	KIAA1841	2	61304140	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45142	61304140	181895233	2373	10085											
KIAA1841	84542	broad.mit.edu	37	chr2	61336419	61336419	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggagatgaagaagaagtaTccaagaaacaaagtattggt	11	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61336419T>C	ENST00000402291.1	+	16	1973	c.1732T>C	c.(1732-1734)Tcc>Ccc	p.S578P	KIAA1841_ENST00000453873.1_Missense_Mutation_p.S578P|KIAA1841_ENST00000356719.2_Missense_Mutation_p.S578P|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S578P	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	578										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AGAAGAAGTATCCAAGAAACA	0.353													False	0	False	2:61336419	0	C	61336419	T	C	61336419	3	2	88	1	0	0	0	0	1	0	0	0	8311	1435	50	4	1786	4	KIAA1841	2	61336419	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32279	61336419	181862954	2374	10086											
KIAA1841	84542	broad.mit.edu	37	chr2	61343134	61343134	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaggagaagccaaagAagttcactagacaaccaaaa	9	7	1	3	rs146888479	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61343134A>C	ENST00000402291.1	+	17	2006	c.1765A>C	c.(1765-1767)Aag>Cag	p.K589Q	KIAA1841_ENST00000453873.1_Missense_Mutation_p.K589Q|KIAA1841_ENST00000356719.2_Missense_Mutation_p.K589Q|KIAA1841_ENST00000295031.5_Missense_Mutation_p.K589Q	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	589										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GAAGCCAAAGAAGTTCACTAG	0.383													False	0	False	2:61343134	0	C	61343134	A	C	61343134	3	2	88	1	0	0	0	0	1	0	0	0	8311	247	9	4	1823	4	KIAA1841	2	61343134	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6715	61343134	181856239	2375	10087											
KIAA1841	84542	broad.mit.edu	37	chr2	61344641	61344641	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtgggatgccacaagatcCttgagattcaaccaggatgc	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61344641C>A	ENST00000402291.1	+	19	2146	c.1905C>A	c.(1903-1905)tcC>tcA	p.S635S	KIAA1841_ENST00000453873.1_Silent_p.S635S|KIAA1841_ENST00000356719.2_Silent_p.S635S|KIAA1841_ENST00000295031.5_Silent_p.S635S	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	635										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCACAAGATCCTTGAGATTCA	0.343													False	0	False	2:61344641	0	A	61344641	C	A	61344641	2	1	88	1	0	0	0	0	0	0	0	1	8311	668	24	3		3	KIAA1841	2	61344641	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1507	61344641	181854732	2376	10088											
AHSA2	130872	broad.mit.edu	37	chr2	61411915	61411915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattgactgtcaaaagaaaaCtgagtgggaataccctgcag	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61411915C>A	ENST00000394457.3	+	3	1798	c.55C>A	c.(55-57)Ctg>Atg	p.L19M	AHSA2_ENST00000410073.1_Missense_Mutation_p.L19M|AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000357022.2_Missense_Mutation_p.L19M			Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)						response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			CAAAAGAAAACTGAGTGGGAA	0.438													False	0	True	2:61411915	0	A	61411915	C	A	61411915	3	1	88	1	0	0	0	0	1	0	0	0	419	564	20	3	57	3	AHSA2	2	61411915	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67274	61411915	181787458	2377	10089											
USP34	9736	broad.mit.edu	37	chr2	61575613	61575613	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaacttccctgcatggaTtcctgtattttgaaacaaat	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61575613T>G	ENST00000398571.2	-	15	1753	c.1677A>C	c.(1675-1677)gaA>gaC	p.E559D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	559					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTGCATGGATTCCTGTATTT	0.378													False	0	False	2:61575613	0	G	61575613	T	G	61575613	3	3	88	1	0	0	0	0	1	0	0	0	17149	1490	52	4	9227	4	USP34	2	61575613	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	163698	61575613	181623760	2378	10090											
XPO1	7514	broad.mit.edu	37	chr2	61715367	61715367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtttccctttttacagttCgcatacttctaatcaatggt	5	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61715367C>T	ENST00000401558.2	-	19	2973	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	XPO1_ENST00000404992.2_Missense_Mutation_p.R749Q|XPO1_ENST00000406957.1_Missense_Mutation_p.R749Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	749					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	p.R749Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTTTACAGTTCGCATACTTCT	0.363			Mis		CLL								False	0	False	2:61715367	0	T	61715367	C	T	61715367	3	4	88	1	0	0	0	0	1	0	0	0	17529	884	31	1	997	1	XPO1	2	61715367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139754	61715367	181484006	2379	10091											
FAM161A	84140	broad.mit.edu	37	chr2	62066556	62066556	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgcgtcctacttacttacCttacggcttgttctcgtcct	6	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62066556C>A	ENST00000404929.1	-	3	1594	c.1583G>T	c.(1582-1584)aGg>aTg	p.R528M	FAM161A_ENST00000405894.3_Splice_Site_p.R528I	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	528					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTTACTTACCTTACGGCTTG	0.463													False	0	True	2:62066556	0	A	62066556	C	A	62066556	5	1	88	1	0	0	0	0	0	0	1	0	5508	695	24	3	415	3	FAM161A	2	62066556	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	351189	62066556	181132817	2380	10092											
FAM161A	84140	broad.mit.edu	37	chr2	62067069	62067069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatcgaggaatgggtctgGctttaaatcgatttgttttc	11	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62067069G>A	ENST00000404929.1	-	3	1081	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	FAM161A_ENST00000405894.3_Missense_Mutation_p.A357V	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	357					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATGGGTCTGGCTTTAAATCG	0.418													False	0	False	2:62067069	0	A	62067069	G	A	62067069	3	1	88	1	0	0	0	0	1	0	0	0	5508	1203	42	2	928	2	FAM161A	2	62067069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	513	62067069	181132304	2381	10093											
FAM161A	84140	broad.mit.edu	37	chr2	62067278	62067278	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaagacagatgcaggAactggattggctcggaattt	15	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62067278A>T	ENST00000404929.1	-	3	872	c.861T>A	c.(859-861)gtT>gtA	p.V287V	FAM161A_ENST00000405894.3_Silent_p.V287V	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	287					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGATGCAGGAACTGGATTGG	0.403													False	0	False	2:62067278	0	T	62067278	A	T	62067278	2	4	88	1	0	0	0	0	0	0	0	1	5508	233	9	5		5	FAM161A	2	62067278	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	209	62067278	181132095	2382	10094											
COMMD1	150684	broad.mit.edu	37	chr2	62132863	62132863	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acccctgagcgggctgctgaAtgcgctggcccaggacactt	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62132863A>C	ENST00000311832.5	+	1	82	c.50A>C	c.(49-51)aAt>aCt	p.N17T	COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.N17T	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	17					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			GGGCTGCTGAATGCGCTGGCC	0.692													False	0	False	2:62132863	0	C	62132863	A	C	62132863	3	2	88	1	0	0	0	0	1	0	0	0	3737	101	4	4	52	4	COMMD1	2	62132863	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65585	62132863	181066510	2383	10095											
B3GNT2	10678	broad.mit.edu	37	chr2	62449557	62449557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcaagagaagctgaacCggcagtacaaccccatcctg	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62449557C>T	ENST00000301998.4	+	2	454	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	B3GNT2_ENST00000405767.1_Missense_Mutation_p.R68W	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	68						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GAAGCTGAACCGGCAGTACAA	0.512													False	0	False	2:62449557	0	T	62449557	C	T	62449557	3	4	88	1	0	0	0	0	1	0	0	0	1261	643	23	1	204	1	B3GNT2	2	62449557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316694	62449557	180749816	2384	10096											
OTX1	5013	broad.mit.edu	37	chr2	63281286	63281286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaccctgacatcttcatgCgggaggaggtggcgctcaag	14	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63281286C>T	ENST00000282549.2	+	4	478	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	OTX1_ENST00000366671.3_Missense_Mutation_p.R68W	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	68						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CATCTTCATGCGGGAGGAGGT	0.662													False	0	True	2:63281286	0	T	63281286	C	T	63281286	3	4	88	1	0	0	0	0	1	0	0	0	11388	759	27	1	208	1	OTX1	2	63281286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	831729	63281286	179918087	2385	10097											
OTX1	5013	broad.mit.edu	37	chr2	63282778	63282778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccaattcacgccgccagCtgtgtccagctctgcctcgt	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63282778C>A	ENST00000282549.2	+	5	668	c.392C>A	c.(391-393)gCt>gAt	p.A131D	OTX1_ENST00000366671.3_Missense_Mutation_p.A131D	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	131						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ACGCCGCCAGCTGTGTCCAGC	0.677													False	0	False	2:63282778	0	A	63282778	C	A	63282778	3	1	88	1	0	0	0	0	1	0	0	0	11388	797	28	3	402	3	OTX1	2	63282778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1492	63282778	179916595	2386	10098											
OTX1	5013	broad.mit.edu	37	chr2	63283061	63283061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcttatcccatgtcctaCggccagggcggcagctacgg	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283061C>T	ENST00000282549.2	+	5	951	c.675C>T	c.(673-675)taC>taT	p.Y225Y	OTX1_ENST00000366671.3_Silent_p.Y225Y	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	225						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCATGTCCTACGGCCAGGGCG	0.652													False	0	False	2:63283061	0	T	63283061	C	T	63283061	2	4	88	1	0	0	0	0	0	0	0	1	11388	547	19	1		1	OTX1	2	63283061	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283	63283061	179916312	2387	10099											
OTX1	5013	broad.mit.edu	37	chr2	63283199	63283199	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccccatggcaccctcctcCatggcgggccaccatcatca	8	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283199C>A	ENST00000282549.2	+	5	1089	c.813C>A	c.(811-813)tcC>tcA	p.S271S	OTX1_ENST00000366671.3_Silent_p.S271S	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	271						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CACCCTCCTCCATGGCGGGCC	0.637													False	0	False	2:63283199	0	A	63283199	C	A	63283199	2	1	88	1	0	0	0	0	0	0	0	1	11388	581	21	3		3	OTX1	2	63283199	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138	63283199	179916174	2388	10100											
UGP2	7360	broad.mit.edu	37	chr2	64109652	64109652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgcctgataatatatcttCcgtgttgaacaaactagtgg	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64109652C>T	ENST00000337130.5	+	4	784	c.308C>T	c.(307-309)tCc>tTc	p.S103F	UGP2_ENST00000445915.2_Missense_Mutation_p.S112F|UGP2_ENST00000394417.2_Missense_Mutation_p.S92F|UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000467648.2_Missense_Mutation_p.S92F	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	103					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AATATATCTTCCGTGTTGAAC	0.403													False	0	False	2:64109652	0	T	64109652	C	T	64109652	3	4	88	1	0	0	0	0	1	0	0	0	17027	855	30	2	322	2	UGP2	2	64109652	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	826453	64109652	179089721	2389	10101											
AFTPH	54812	broad.mit.edu	37	chr2	64779021	64779021	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatttaaataaagtagTggagcagagacagaatgttg	12	2	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64779021T>G	ENST00000422803.1	+	2	727	c.413T>G	c.(412-414)gTg>gGg	p.V138G	AFTPH_ENST00000409933.1_Missense_Mutation_p.V138G|AFTPH_ENST00000238856.4_Missense_Mutation_p.V138G|AFTPH_ENST00000238855.7_Missense_Mutation_p.V138G			Q6ULP2	AFTIN_HUMAN	aftiphilin	138					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AATAAAGTAGTGGAGCAGAGA	0.358													False	0	False	2:64779021	0	G	64779021	T	G	64779021	3	3	88	1	0	0	0	0	1	0	0	0	364	1696	59	4	415	4	AFTPH	2	64779021	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	669369	64779021	178420352	2390	10102											
AFTPH	54812	broad.mit.edu	37	chr2	64779607	64779607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtcaggtgttcagtcaaaGgcttggagtttggtagactc	13	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64779607G>T	ENST00000422803.1	+	2	1313	c.999G>T	c.(997-999)aaG>aaT	p.K333N	AFTPH_ENST00000409933.1_Missense_Mutation_p.K333N|AFTPH_ENST00000238856.4_Missense_Mutation_p.K333N|AFTPH_ENST00000238855.7_Missense_Mutation_p.K333N			Q6ULP2	AFTIN_HUMAN	aftiphilin	333					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TTCAGTCAAAGGCTTGGAGTT	0.383													False	0	True	2:64779607	0	T	64779607	G	T	64779607	3	4	88	1	0	0	0	0	1	0	0	0	364	991	35	3	1001	3	AFTPH	2	64779607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	586	64779607	178419766	2391	10103											
SERTAD2	9792	broad.mit.edu	37	chr2	64863365	64863365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttttgagtcatctgcgcggCtctcttgaggaccgtcgagt	13	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863365C>A	ENST00000313349.3	-	2	938	c.641G>T	c.(640-642)aGc>aTc	p.S214I		NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	214					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						ATCTGCGCGGCTCTCTTGAGG	0.567													False	0	True	2:64863365	0	A	64863365	C	A	64863365	3	1	88	1	0	0	0	0	1	0	0	0	14202	797	28	3	307	3	SERTAD2	2	64863365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83758	64863365	178336008	2392	10104											
SERTAD2	9792	broad.mit.edu	37	chr2	64863673	64863673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggtgggaggacggggaCgccaggtggctgaaggccgg	23	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863673C>T	ENST00000313349.3	-	2	630	c.333G>A	c.(331-333)gcG>gcA	p.A111A	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	111					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGACGGGGACGCCAGGTGGC	0.692													False	0	False	2:64863673	0	T	64863673	C	T	64863673	2	4	88	1	0	0	0	0	0	0	0	1	14202	523	19	1		1	SERTAD2	2	64863673	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308	64863673	178335700	2393	10105											
SLC1A4	6509	broad.mit.edu	37	chr2	65243637	65243637	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggaaatgaaagacatcatCgtgctggtgaccagcctggg	14	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65243637C>T	ENST00000234256.3	+	5	1107	c.864C>T	c.(862-864)atC>atT	p.I288I	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	288					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	AAGACATCATCGTGCTGGTGA	0.458													False	0	False	2:65243637	0	T	65243637	C	T	65243637	2	4	88	1	0	0	0	0	0	0	0	1	14515	874	31	1		1	SLC1A4	2	65243637	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	379964	65243637	177955736	2394	10106											
CEP68	23177	broad.mit.edu	37	chr2	65296585	65296585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagggagtctcaatggccCtgggtgaagaaaaggcagaa	16	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65296585C>T	ENST00000377990.2	+	2	210	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	CEP68_ENST00000260569.4_Silent_p.L3L|CEP68_ENST00000537589.1_Intron|CEP68_ENST00000546106.1_Silent_p.L3L	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	3					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCAATGGCCCTGGGTGAAGA	0.527													False	0	True	2:65296585	0	T	65296585	C	T	65296585	2	4	88	1	0	0	0	0	0	0	0	1	3281	680	24	2		2	CEP68	2	65296585	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52948	65296585	177902788	2395	10107											
CEP68	23177	broad.mit.edu	37	chr2	65298745	65298745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagccagcagcctcacaGctcaggtctctcttgcctgt	8	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65298745G>A	ENST00000377990.2	+	3	718	c.515G>A	c.(514-516)aGc>aAc	p.S172N	CEP68_ENST00000260569.4_Missense_Mutation_p.S172N|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.S172N	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	172					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CAGCCTCACAGCTCAGGTCTC	0.562													False	0	False	2:65298745	0	A	65298745	G	A	65298745	3	1	88	1	0	0	0	0	1	0	0	0	3281	971	34	2	521	2	CEP68	2	65298745	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2160	65298745	177900628	2396	10108											
SPRED2	200734	broad.mit.edu	37	chr2	65540683	65540683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacctgcacatcactccGcagtggtagcaggcccgaag	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65540683G>A	ENST00000356388.4	-	6	1398	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C	SPRED2_ENST00000443619.2_Silent_p.C400C	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	403	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						ACATCACTCCGCAGTGGTAGC	0.607													False	0	False	2:65540683	0	A	65540683	G	A	65540683	2	1	88	1	0	0	0	0	0	0	0	1	15175	1079	38	1		1	SPRED2	2	65540683	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241938	65540683	177658690	2397	10109											
SPRED2	200734	broad.mit.edu	37	chr2	65540906	65540906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttctcacggagtcgggcGcgtcctggcagtggccccgg	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65540906G>A	ENST00000356388.4	-	6	1175	c.986C>T	c.(985-987)gCg>gTg	p.A329V	SPRED2_ENST00000443619.2_Missense_Mutation_p.A326V	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	329	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGAGTCGGGCGCGTCCTGGCA	0.642													False	0	False	2:65540906	0	A	65540906	G	A	65540906	3	1	88	1	0	0	0	0	1	0	0	0	15175	1087	38	1	274	1	SPRED2	2	65540906	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	223	65540906	177658467	2398	10110											
ETAA1	54465	broad.mit.edu	37	chr2	67630386	67630386	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtcaagaagaagaacTtatgaaactggctaaacaat	7	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:67630386T>G	ENST00000272342.5	+	5	702	c.572T>G	c.(571-573)cTt>cGt	p.L191R	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	191						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GAAGAAGAACTTATGAAACTG	0.264													False	0	False	2:67630386	0	G	67630386	T	G	67630386	3	3	88	1	0	0	0	0	1	0	0	0	5299	1609	56	4	590	4	ETAA1	2	67630386	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2089480	67630386	175568987	2399	10111											
ETAA1	54465	broad.mit.edu	37	chr2	67631862	67631862	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaaaacatgtttgctatatCtaaacaaggaagtaatttgg	7	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:67631862C>T	ENST00000272342.5	+	5	2178	c.2048C>T	c.(2047-2049)tCt>tTt	p.S683F	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	683						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTTGCTATATCTAAACAAGGA	0.353													False	0	False	2:67631862	0	T	67631862	C	T	67631862	3	4	88	1	0	0	0	0	1	0	0	0	5299	913	32	2	2066	2	ETAA1	2	67631862	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1476	67631862	175567511	2400	10112											
C1D	10438	broad.mit.edu	37	chr2	68274319	68274319	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaataccttctgcaacaactCatttctagaaacagacatca	3	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68274319C>T	ENST00000355848.3	-	2	171	c.124G>A	c.(124-126)Gag>Aag	p.E42K	C1D_ENST00000409302.1_Missense_Mutation_p.E42K|C1D_ENST00000407324.1_Missense_Mutation_p.E81K|C1D_ENST00000410067.3_Missense_Mutation_p.E42K			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	42	Required for transcriptional repression (By similarity).				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding			lung(2)|urinary_tract(1)	3						TGCAACAACTCATTTCTAGAA	0.328													False	0	False	2:68274319	0	T	68274319	C	T	68274319	3	4	88	1	0	0	0	0	1	0	0	0	1966	835	29	2	317	2	C1D	2	68274319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	642457	68274319	174925054	2401	10113											
WDR92	116143	broad.mit.edu	37	chr2	68361924	68361924	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgccacacagtagatTtatgagcctaaatagaacaa	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68361924T>G	ENST00000295121.6	-	7	892	c.776A>C	c.(775-777)aAa>aCa	p.K259T	WDR92_ENST00000409164.1_Missense_Mutation_p.K259T|WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000406245.2_Missense_Mutation_p.K158T|RP11-474G23.1_ENST00000406334.3_3'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	259					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CACAGTAGATTTATGAGCCTA	0.473													False	0	True	2:68361924	0	G	68361924	T	G	68361924	3	3	88	1	0	0	0	0	1	0	0	0	17423	1841	64	4	305	4	WDR92	2	68361924	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87605	68361924	174837449	2402	10114											
PNO1	56902	broad.mit.edu	37	chr2	68385624	68385624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaacatttgggacttcagaTacgctttaacttgaaatcaa	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68385624T>C	ENST00000263657.2	+	2	411	c.320T>C	c.(319-321)aTa>aCa	p.I107T	RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	107						nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						GGACTTCAGATACGCTTTAAC	0.383													False	0	False	2:68385624	0	C	68385624	T	C	68385624	3	2	88	1	0	0	0	0	1	0	0	0	12230	1406	49	4	326	4	PNO1	2	68385624	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23700	68385624	174813749	2403	10115											
PPP3R1	5534	broad.mit.edu	37	chr2	68413663	68413664	+	Frame_Shift_Ins	INS	-	-	AAATGTGT													ctgcatttattatggttttgINStctacaatttgctgtaactg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68413663_68413664insAAATGTGT	ENST00000234310.3	-	5	804_805	c.401_402insACACATTT	c.(400-402)gacfs	p.D134fs	PPP3R1_ENST00000409377.1_Frame_Shift_Ins_p.D124fs|PPP3R1_ENST00000409752.1_Frame_Shift_Ins_p.D153fs	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	134	EF-hand 4.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding			large_intestine(1)	1					Pimecrolimus(DB00337)	TTATGGTTTTGTCTACAATTTG	0.371													False	0	False	2:68413663	0	AAATGTGT	68413664	-	AAATGTGT	68413663	7	5	88	1	0	1	1	0	0	0	0	0	12474	1368	48	0	118	0	PPP3R1	2	68413663	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	28039	68413663	174785710	2404	10116											
PLEK	5341	broad.mit.edu	37	chr2	68607924	68607924	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagccttcctggaggagagaGatgcctgggttcgggatatc	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68607924G>A	ENST00000234313.7	+	3	447	c.268G>A	c.(268-270)Gat>Aat	p.D90N		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	90	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGAGGAGAGAGATGCCTGGGT	0.463													False	0	True	2:68607924	0	A	68607924	G	A	68607924	3	1	88	1	0	0	0	0	1	0	0	0	12122	942	33	2	278	2	PLEK	2	68607924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194261	68607924	174591449	2405	10117											
FBXO48	554251	broad.mit.edu	37	chr2	68691350	68691350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttttccccttatctttcCagttctgcttctagaatttc	3	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68691350C>T	ENST00000377957.3	-	4	866	c.459G>A	c.(457-459)ctG>ctA	p.L153L		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48											endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CTTATCTTTCCAGTTCTGCTT	0.368													False	0	False	2:68691350	0	T	68691350	C	T	68691350	2	4	88	1	0	0	0	0	0	0	0	1	5797	581	21	2		2	FBXO48	2	68691350	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83426	68691350	174508023	2406	10118											
APLF	200558	broad.mit.edu	37	chr2	68753207	68753207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaaggtaatgtaatccagGgaagtggaaaagaagaaatc	11	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68753207G>A	ENST00000303795.4	+	6	808	c.637G>A	c.(637-639)Gga>Aga	p.G213R		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	213					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TGTAATCCAGGGAAGTGGAAA	0.308													False	0	True	2:68753207	0	A	68753207	G	A	68753207	3	1	88	1	0	0	0	0	1	0	0	0	778	1233	43	2	659	2	APLF	2	68753207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61857	68753207	174446166	2407	10119											
PROKR1	10887	broad.mit.edu	37	chr2	68873141	68873141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgttctttgctgccaagaTtgtcattgggatggccctgg	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68873141T>C	ENST00000303786.3	+	2	608	c.188T>C	c.(187-189)aTt>aCt	p.I63T	PROKR1_ENST00000394342.2_Missense_Mutation_p.I63T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	63						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGCCAAGATTGTCATTGGG	0.507													False	0	False	2:68873141	0	C	68873141	T	C	68873141	3	2	88	1	0	0	0	0	1	0	0	0	12628	1493	52	4	190	4	PROKR1	2	68873141	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119934	68873141	174326232	2408	10120											
ARHGAP25	9938	broad.mit.edu	37	chr2	69002401	69002401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagatggctgccttccatcCatcgtccacccccaacccgc	7	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69002401C>T	ENST00000295381.3	+	2	529	c.110C>T	c.(109-111)cCa>cTa	p.P37L	ARHGAP25_ENST00000544262.1_Missense_Mutation_p.P11L|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P30L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P30L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P37L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P37L|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P30L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	37					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P30Q(1)|p.P37Q(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCCTTCCATCCATCGTCCACC	0.587													False	0	True	2:69002401	0	T	69002401	C	T	69002401	3	4	88	1	0	0	0	0	1	0	0	0	876	594	21	2	156	2	ARHGAP25	2	69002401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129260	69002401	174196972	2409	10121											
ARHGAP25	9938	broad.mit.edu	37	chr2	69002461	69002461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctggctgaagaagcagaGgtccatcgtgaagaactggc	16	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69002461G>T	ENST00000295381.3	+	2	589	c.170G>T	c.(169-171)aGg>aTg	p.R57M	ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R31M|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R50M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R57M|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R57M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R50M	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	57	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAGAAGCAGAGGTCCATCGTG	0.582													False	0	False	2:69002461	0	T	69002461	G	T	69002461	3	4	88	1	0	0	0	0	1	0	0	0	876	1000	35	3	216	3	ARHGAP25	2	69002461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	69002461	174196912	2410	10122											
ARHGAP25	9938	broad.mit.edu	37	chr2	69043302	69043302	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagaactacaggaacaggaAtgactgccaaagtgttgttt	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69043302A>C	ENST00000544262.1	+	7	960	c.746A>C	c.(745-747)aAt>aCt	p.N249T	ARHGAP25_ENST00000295381.3_Intron|ARHGAP25_ENST00000409220.1_Intron|ARHGAP25_ENST00000497079.1_Intron|ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409030.3_Intron			P42331	RHG25_HUMAN	Rho GTPase activating protein 25	0	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGGAACAGGAATGACTGCCAA	0.373													False	0	False	2:69043302	0	C	69043302	A	C	69043302	3	2	88	1	0	0	0	0	1	0	0	0	876	116	4	4		4	ARHGAP25	2	69043302	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40841	69043302	174156071	2411	10123											
ARHGAP25	9938	broad.mit.edu	37	chr2	69046363	69046363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcccagaaaaatgaccCcaagaaagctccagtggccc	8	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69046363C>T	ENST00000295381.3	+	9	1528	c.1109C>T	c.(1108-1110)cCc>cTc	p.P370L	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P64L|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P364L|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P371L|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P331L|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P363L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	370					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAAAATGACCCCAAGAAAGCT	0.512													False	0	True	2:69046363	0	T	69046363	C	T	69046363	3	4	88	1	0	0	0	0	1	0	0	0	876	623	22	2	1186	2	ARHGAP25	2	69046363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3061	69046363	174153010	2412	10124											
BMP10	27302	broad.mit.edu	37	chr2	69092950	69092951	+	Frame_Shift_Ins	INS	-	-	AGAAGAAGAGTCCTATG													atgctttgtgggtgtgagatINSgctctgccagggggtagtta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69092950_69092951insAGAAGAAGAGTCCTATG	ENST00000295379.1	-	2	1245_1246	c.1087_1088insCATAGGACTCTTCTTCT	c.(1087-1089)catfs	p.H363fs		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	363					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GGGTGTGAGATGCTCTGCCAGG	0.535													False	0	False	2:69092950	0	AGAAGAAGAGTCCTATG	69092951	-	AGAAGAAGAGTCCTATG	69092950	7	5	88	1	0	1	1	0	0	0	0	0	1462	1464	51	0	190	0	BMP10	2	69092950	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	46587	69092950	174106423	2413	10125											
GFPT1	2673	broad.mit.edu	37	chr2	69553337	69553337	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcctcactctacagtcacaGatttggcaagattccgtggg	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69553337G>T	ENST00000357308.4	-	20	2262	c.2084C>A	c.(2083-2085)tCt>tAt	p.S695Y	GFPT1_ENST00000361060.5_Missense_Mutation_p.S677Y	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	695					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TACAGTCACAGATTTGGCAAG	0.333													False	0	False	2:69553337	0	T	69553337	G	T	69553337	3	4	88	1	0	0	0	0	1	0	0	0	6390	942	33	3	19	3	GFPT1	2	69553337	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	460387	69553337	173646036	2414	10126											
GMCL1	64395	broad.mit.edu	37	chr2	70070383	70070384	+	Frame_Shift_Ins	INS	-	-	ACAGC													gacctatggattagattctgINStaaagaaaaagtgagttgcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70070383_70070384insACAGC	ENST00000282570.3	+	5	933_934	c.682_683insACAGC	c.(682-684)gtafs	p.V228fs		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	228					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						ATTAGATTCTGTAAAGAAAAAG	0.356													False	0	True	2:70070383	0	ACAGC	70070384	-	ACAGC	70070383	7	5	88	1	0	1	1	0	0	0	0	0	6530	1377	48	0	700	0	GMCL1	2	70070383	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	517046	70070383	173128990	2415	10127	153	2									
GMCL1	64395	broad.mit.edu	37	chr2	70070384	70070385	+	In_Frame_Ins	INS	-	-	TTTACATATTAA													acctatggattagattctgtINSaaagaaaaagtgagttgcct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70070384_70070385insTTTACATATTAA	ENST00000282570.3	+	5	934_935	c.683_684insTTTACATATTAA	c.(682-687)gtaaag>gtTTTACATATTAAaaag	p.228_229VK>VLHIKK		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	228					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TTAGATTCTGTAAAGAAAAAGT	0.351													False	0	True	2:70070384	0	TTTACATATTAA	70070385	-	TTTACATATTAA	70070384	7	5	88	1	0	1	1	0	0	0	0	0	6530	1638	57	0	701	0	GMCL1	2	70070384	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1	70070384	173128989	2416	10128	153	2									
SNRNP27	11017	broad.mit.edu	37	chr2	70123668	70123668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaacaaagagcaaagaaCggcagattactggtaatgtt	10	5	0	4	rs142136097	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70123668C>T	ENST00000244227.3	+	3	681	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SNRNP27_ENST00000488986.1_3'UTR|SNRNP27_ENST00000409116.1_Missense_Mutation_p.R86W	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	86					mRNA processing|RNA splicing	nucleus	nucleic acid binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						gaGCAAAGAACGGCAGATTAC	0.328													False	0	False	2:70123668	0	T	70123668	C	T	70123668	3	4	88	1	0	0	0	0	1	0	0	0	14934	527	19	1	266	1	SNRNP27	2	70123668	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53284	70123668	173075705	2417	10129											
MXD1	4084	broad.mit.edu	37	chr2	70165302	70165302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcagcagcagtgtgagCgactctgacgagcggggcag	18	9	1	2	rs148753961		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70165302C>T	ENST00000264444.2	+	6	812	c.552C>T	c.(550-552)agC>agT	p.S184S	MXD1_ENST00000465446.1_3'UTR|MXD1_ENST00000540449.1_Silent_p.S174S	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	184					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GCAGTGTGAGCGACTCTGACG	0.557													False	0	False	2:70165302	0	T	70165302	C	T	70165302	2	4	88	1	0	0	0	0	0	0	0	1	10066	767	27	1		1	MXD1	2	70165302	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41634	70165302	173034071	2418	10130											
ASPRV1	151516	broad.mit.edu	37	chr2	70188262	70188262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccatgctgttggcaaagaCgatctctttgggcaggtggc	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70188262C>T	ENST00000320256.4	-	1	1135	c.559G>A	c.(559-561)Gtc>Atc	p.V187I		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	187					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TTGGCAAAGACGATCTCTTTG	0.602													False	0	False	2:70188262	0	T	70188262	C	T	70188262	3	4	88	1	0	0	0	0	1	0	0	0	1062	536	19	1	476	1	ASPRV1	2	70188262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22960	70188262	173011111	2419	10131											
PCBP1	5093	broad.mit.edu	37	chr2	70315123	70315123	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacaagctggaggaagataTcaacagctccatgaccaaca	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315123T>G	ENST00000303577.5	+	1	539	c.248T>G	c.(247-249)aTc>aGc	p.I83S	PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	83					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GAGGAAGATATCAACAGCTCC	0.592													False	0	False	2:70315123	0	G	70315123	T	G	70315123	3	3	88	1	0	0	0	0	1	0	0	0	11568	1435	50	4	250	4	PCBP1	2	70315123	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126861	70315123	172884250	2420	10132											
PCBP1	5093	broad.mit.edu	37	chr2	70315305	70315305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcccaactccaccgagCgggccatcaccatcgctggc	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315305C>T	ENST00000303577.5	+	1	721	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	144	KH 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CTCCACCGAGCGGGCCATCAC	0.622													False	0	True	2:70315305	0	T	70315305	C	T	70315305	3	4	88	1	0	0	0	0	1	0	0	0	11568	759	27	1	432	1	PCBP1	2	70315305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182	70315305	172884068	2421	10133											
PCBP1	5093	broad.mit.edu	37	chr2	70315942	70315942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagaagggcatggggtgcaGctagaacagtgtaggttccc	16	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315942G>T	ENST00000303577.5	+	1	1358	c.1067G>T	c.(1066-1068)aGc>aTc	p.S356I	PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	356					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						ATGGGGTGCAGCTAGAACAGT	0.463													False	0	False	2:70315942	0	T	70315942	G	T	70315942	3	4	88	1	0	0	0	0	1	0	0	0	11568	971	34	3	1069	3	PCBP1	2	70315942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637	70315942	172883431	2422	10134											
PCYOX1	51449	broad.mit.edu	37	chr2	70502729	70502729	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgctcagggcttctgcagGcatccaaaagcaatcttata	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70502729G>T	ENST00000433351.2	+	5	818	c.790G>T	c.(790-792)Gca>Tca	p.A264S	PCYOX1_ENST00000545138.1_Missense_Mutation_p.A186S|PCYOX1_ENST00000505044.2_Missense_Mutation_p.A187S|PCYOX1_ENST00000264441.5_Missense_Mutation_p.A264S	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	264					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GCTTCTGCAGGCATCCAAAAG	0.438													False	0	False	2:70502729	0	T	70502729	G	T	70502729	3	4	88	1	0	0	0	0	1	0	0	0	11676	1203	42	3	808	3	PCYOX1	2	70502729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186787	70502729	172696644	2423	10135											
ADD2	119	broad.mit.edu	37	chr2	70901918	70901918	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctgaatcgtctttggTatcctcgtctcccttggaca	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70901918T>C	ENST00000264436.4	-	14	2077	c.1633A>G	c.(1633-1635)Acc>Gcc	p.T545A	ADD2_ENST00000355733.3_Missense_Mutation_p.T545A|ADD2_ENST00000407644.2_Missense_Mutation_p.T545A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCGTCTTTGGTATCCTCGTCT	0.547													False	0	False	2:70901918	0	C	70901918	T	C	70901918	3	2	88	1	0	0	0	0	1	0	0	0	305	1638	57	4	649	4	ADD2	2	70901918	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	399189	70901918	172297455	2424	10136											
ADD2	119	broad.mit.edu	37	chr2	70904002	70904002	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgacttcacatcttgtcGgttttgttctcgaatctgtg	9	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70904002G>A	ENST00000264436.4	-	13	1963	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	ADD2_ENST00000430656.1_Nonsense_Mutation_p.R523*|ADD2_ENST00000355733.3_Nonsense_Mutation_p.R507*|ADD2_ENST00000407644.2_Nonsense_Mutation_p.R507*|ADD2_ENST00000413157.2_Nonsense_Mutation_p.R507*	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ACATCTTGTCGGTTTTGTTCT	0.612													False	0	False	2:70904002	0	A	70904002	G	A	70904002	4	1	88	1	0	0	0	0	0	1	0	0	305	1124	39	1	854	1	ADD2	2	70904002	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2084	70904002	172295371	2425	10137											
ADD2	119	broad.mit.edu	37	chr2	70918003	70918003	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtcataataggccatgTcccccaccagcagggcattg	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70918003T>C	ENST00000264436.4	-	8	1208	c.764A>G	c.(763-765)gAc>gGc	p.D255G	AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000430656.1_Missense_Mutation_p.D271G|ADD2_ENST00000355733.3_Missense_Mutation_p.D255G|ADD2_ENST00000407644.2_Missense_Mutation_p.D255G|ADD2_ENST00000413157.2_Missense_Mutation_p.D255G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATAGGCCATGTCCCCCACCAG	0.562													False	0	True	2:70918003	0	C	70918003	T	C	70918003	3	2	88	1	0	0	0	0	1	0	0	0	305	1667	58	4	1629	4	ADD2	2	70918003	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14001	70918003	172281370	2426	10138											
ADD2	119	broad.mit.edu	37	chr2	70933384	70933384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggatcatggtgacgcGcttcttctgctccatcaggt	11	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933384G>A	ENST00000264436.4	-	3	601	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	ADD2_ENST00000430656.1_Missense_Mutation_p.R69C|ADD2_ENST00000355733.3_Missense_Mutation_p.R53C|ADD2_ENST00000407644.2_Missense_Mutation_p.R53C|ADD2_ENST00000413157.2_Missense_Mutation_p.R53C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATGGTGACGCGCTTCTTCTGC	0.642													False	0	False	2:70933384	0	A	70933384	G	A	70933384	3	1	88	1	0	0	0	0	1	0	0	0	305	1087	38	1	2260	1	ADD2	2	70933384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15381	70933384	172265989	2427	10139											
ADD2	119	broad.mit.edu	37	chr2	70933444	70933444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgcccggttgcgaaggcGcatgtactcggggtcgtcct	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933444G>A	ENST00000264436.4	-	3	541	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	ADD2_ENST00000430656.1_Missense_Mutation_p.R49C|ADD2_ENST00000355733.3_Missense_Mutation_p.R33C|ADD2_ENST00000407644.2_Missense_Mutation_p.R33C|ADD2_ENST00000413157.2_Missense_Mutation_p.R33C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTGCGAAGGCGCATGTACTCG	0.647													False	0	False	2:70933444	0	A	70933444	G	A	70933444	3	1	88	1	0	0	0	0	1	0	0	0	305	1087	38	1	2320	1	ADD2	2	70933444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	70933444	172265929	2428	10140											
CLEC4F	165530	broad.mit.edu	37	chr2	71043855	71043855	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatttcagagtttgcattttCtaagcctctgcttagcacgt	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71043855C>A	ENST00000272367.2	-	4	734	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	CLEC4F_ENST00000426626.1_Nonsense_Mutation_p.E220*	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	220					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTTGCATTTTCTAAGCCTCTG	0.413													False	0	True	2:71043855	0	A	71043855	C	A	71043855	4	1	88	1	0	0	0	0	0	1	0	0	3539	922	32	3	1127	3	CLEC4F	2	71043855	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110411	71043855	172155518	2429	10141											
CLEC4F	165530	broad.mit.edu	37	chr2	71046523	71046523	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaatgcccagtaatgttgtCtcccagaattacggcttgca	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71046523C>T	ENST00000272367.2	-	3	308	c.232G>A	c.(232-234)Gac>Aac	p.D78N	CLEC4F_ENST00000426626.1_Missense_Mutation_p.D78N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	78					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTAATGTTGTCTCCCAGAATT	0.532													False	0	False	2:71046523	0	T	71046523	C	T	71046523	3	4	88	1	0	0	0	0	1	0	0	0	3539	913	32	2	1557	2	CLEC4F	2	71046523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2668	71046523	172152850	2430	10142											
CD207	50489	broad.mit.edu	37	chr2	71060782	71060782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctgagtcacttactttgtCgtttgagcaacttgctcata	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71060782C>T	ENST00000410009.3	-	3	605	c.560G>A	c.(559-561)cGa>cAa	p.R187Q		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	187					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTTACTTTGTCGTTTGAGCAA	0.483													False	0	False	2:71060782	0	T	71060782	C	T	71060782	3	4	88	1	0	0	0	0	1	0	0	0	3006	884	31	1	442	1	CD207	2	71060782	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14259	71060782	172138591	2431	10143											
CD207	50489	broad.mit.edu	37	chr2	71062649	71062649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgcagcaggacggaggCgaccaggaccagcgtcaggc	17	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71062649C>T	ENST00000410009.3	-	2	208	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	55			A -> V (in dbSNP:rs10489990).		defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						AGGACGGAGGCGACCAGGACC	0.597													False	0	False	2:71062649	0	T	71062649	C	T	71062649	3	4	88	1	0	0	0	0	1	0	0	0	3006	768	27	1	843	1	CD207	2	71062649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1867	71062649	172136724	2432	10144											
CD207	50489	broad.mit.edu	37	chr2	71062889	71062889	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagtgcgcatcaggggcCtccttctccacagtcatcct	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71062889C>A	ENST00000410009.3	-	1	63	c.18G>T	c.(16-18)gaG>gaT	p.E6D		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	6					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CATCAGGGGCCTCCTTCTCCA	0.562													False	0	False	2:71062889	0	A	71062889	C	A	71062889	3	1	88	1	0	0	0	0	1	0	0	0	3006	680	24	3	992	3	CD207	2	71062889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240	71062889	172136484	2433	10145											
NAGK	55577	broad.mit.edu	37	chr2	71305565	71305565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggccagcctaggggccaGgcacatcgggcacctcctcc	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71305565G>T	ENST00000418807.3	+	9	973	c.809G>T	c.(808-810)aGg>aTg	p.R270M	NAGK_ENST00000443938.2_Missense_Mutation_p.R317M|NAGK_ENST00000244204.6_Missense_Mutation_p.R321M|NAGK_ENST00000443872.2_Missense_Mutation_p.R173M|NAGK_ENST00000455662.2_Missense_Mutation_p.R367M			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	321					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CTAGGGGCCAGGCACATCGGG	0.617													False	0	False	2:71305565	0	T	71305565	G	T	71305565	3	4	88	1	0	0	0	0	1	0	0	0	10209	1000	35	3	1138	3	NAGK	2	71305565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242676	71305565	171893808	2434	10146											
MCEE	84693	broad.mit.edu	37	chr2	71351596	71351596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccaggttccacacagaacCtgtcacttgatccaagggct	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71351596C>A	ENST00000244217.5	-	2	135	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C		NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	40					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CACACAGAACCTGTCACTTGA	0.468													False	0	False	2:71351596	0	A	71351596	C	A	71351596	3	1	88	1	0	0	0	0	1	0	0	0	9444	681	24	3	420	3	MCEE	2	71351596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46031	71351596	171847777	2435	10147											
ZNF638	27332	broad.mit.edu	37	chr2	71654323	71654323	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagaagagcttaattttgTtactgttgatgaagttggag	11	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71654323T>G	ENST00000409544.1	+	24	5954	c.5324T>G	c.(5323-5325)gTt>gGt	p.V1775G	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.V715G|ZNF638_ENST00000264447.4_Missense_Mutation_p.V1775G	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1775					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTTAATTTTGTTACTGTTGAT	0.368													False	0	False	2:71654323	0	G	71654323	T	G	71654323	3	3	88	1	0	0	0	0	1	0	0	0	18138	1725	60	4	5414	4	ZNF638	2	71654323	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	302727	71654323	171545050	2436	10148											
DYSF	8291	broad.mit.edu	37	chr2	71797772	71797772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccggagcggaagccgaaGcactgggtccctgctgagaa	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71797772G>A	ENST00000258104.3	+	29	3352	c.3075G>A	c.(3073-3075)aaG>aaA	p.K1025K	DYSF_ENST00000413539.2_Silent_p.K1056K|DYSF_ENST00000409582.3_Silent_p.K1042K|DYSF_ENST00000409762.1_Silent_p.K1042K|DYSF_ENST00000410020.3_Silent_p.K1043K|DYSF_ENST00000409366.1_Silent_p.K1026K|DYSF_ENST00000409651.1_Silent_p.K1057K|DYSF_ENST00000409744.1_Silent_p.K1012K|DYSF_ENST00000394120.2_Silent_p.K1026K|DYSF_ENST00000410041.1_Silent_p.K1043K|DYSF_ENST00000429174.2_Silent_p.K1025K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1025						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAAGCCGAAGCACTGGGTCC	0.627													False	0	False	2:71797772	0	A	71797772	G	A	71797772	2	1	88	1	0	0	0	0	0	0	0	1	4889	962	34	2		2	DYSF	2	71797772	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143449	71797772	171401601	2437	10149											
DYSF	8291	broad.mit.edu	37	chr2	71825816	71825816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagatctttggcgagccgGccacagttgctgagcaaccg	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71825816G>A	ENST00000258104.3	+	33	3920	c.3643G>A	c.(3643-3645)Gcc>Acc	p.A1215T	DYSF_ENST00000413539.2_Missense_Mutation_p.A1246T|DYSF_ENST00000409582.3_Missense_Mutation_p.A1232T|DYSF_ENST00000409762.1_Missense_Mutation_p.A1232T|DYSF_ENST00000410020.3_Missense_Mutation_p.A1233T|DYSF_ENST00000409366.1_Missense_Mutation_p.A1216T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.A1247T|DYSF_ENST00000409744.1_Missense_Mutation_p.A1202T|DYSF_ENST00000394120.2_Missense_Mutation_p.A1216T|DYSF_ENST00000410041.1_Missense_Mutation_p.A1233T|DYSF_ENST00000429174.2_Missense_Mutation_p.A1215T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1215	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGCGAGCCGGCCACAGTTGC	0.592													False	0	False	2:71825816	0	A	71825816	G	A	71825816	3	1	88	1	0	0	0	0	1	0	0	0	4889	1203	42	2	3965	2	DYSF	2	71825816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28044	71825816	171373557	2438	10150											
DYSF	8291	broad.mit.edu	37	chr2	71883410	71883410	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagatccatctgtgattgGtgaatttaaggtaaatcctc	9	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71883410G>T	ENST00000258104.3	+	42	4905	c.4628G>T	c.(4627-4629)gGt>gTt	p.G1543V	DYSF_ENST00000413539.2_Missense_Mutation_p.G1574V|DYSF_ENST00000409582.3_Missense_Mutation_p.G1581V|DYSF_ENST00000409762.1_Missense_Mutation_p.G1560V|DYSF_ENST00000410020.3_Missense_Mutation_p.G1582V|DYSF_ENST00000409366.1_Missense_Mutation_p.G1565V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.G1575V|DYSF_ENST00000409744.1_Missense_Mutation_p.G1551V|DYSF_ENST00000394120.2_Missense_Mutation_p.G1544V|DYSF_ENST00000410041.1_Missense_Mutation_p.G1561V|DYSF_ENST00000429174.2_Missense_Mutation_p.G1564V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1543			G -> D (in LGMD2B).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTGTGATTGGTGAATTTAAG	0.517													False	0	False	2:71883410	0	T	71883410	G	T	71883410	3	4	88	1	0	0	0	0	1	0	0	0	4889	1261	44	3	5053	3	DYSF	2	71883410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57594	71883410	171315963	2439	10151											
CYP26B1	56603	broad.mit.edu	37	chr2	72371142	72371142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgttgcggtggatgtcGccaatggaattggacaccgt	14	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:72371142G>A	ENST00000001146.2	-	2	608	c.405C>T	c.(403-405)ggC>ggT	p.G135G	CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	135					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTGGATGTCGCCAATGGAAT	0.622													False	0	False	2:72371142	0	A	72371142	G	A	72371142	2	1	88	1	0	0	0	0	0	0	0	1	4181	1074	38	1		1	CYP26B1	2	72371142	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	487732	72371142	170828231	2440	10152											
CYP26B1	56603	broad.mit.edu	37	chr2	72371289	72371289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggccgccccaacaaatgCgtcttgaacacgttgccata	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:72371289C>T	ENST00000001146.2	-	2	461	c.258G>A	c.(256-258)acG>acA	p.T86T	CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	86					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CCAACAAATGCGTCTTGAACA	0.637													False	0	False	2:72371289	0	T	72371289	C	T	72371289	2	4	88	1	0	0	0	0	0	0	0	1	4181	755	27	1		1	CYP26B1	2	72371289	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147	72371289	170828084	2441	10153											
EMX1	2016	broad.mit.edu	37	chr2	73145311	73145311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgggcgcgggccgctcGctctacggtgggcccgagct	18	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73145311G>A	ENST00000258106.6	+	1	708	c.330G>A	c.(328-330)tcG>tcA	p.S110S	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	77						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						cgggccgcTCGCTCTACGGTG	0.771													False	0	False	2:73145311	0	A	73145311	G	A	73145311	2	1	88	1	0	0	0	0	0	0	0	1	5139	1074	38	1		1	EMX1	2	73145311	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	774022	73145311	170054062	2442	10154											
SFXN5	94097	broad.mit.edu	37	chr2	73198789	73198789	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctccccgtaccgcatcagGaccacattgcagatattggc	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73198789G>A	ENST00000272433.2	-	11	781	c.651C>T	c.(649-651)gtC>gtT	p.V217V	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Intron	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	217					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ACCGCATCAGGACCACATTGC	0.592													False	0	False	2:73198789	0	A	73198789	G	A	73198789	2	1	88	1	0	0	0	0	0	0	0	1	14279	1161	41	2		2	SFXN5	2	73198789	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53478	73198789	170000584	2443	10155											
SMYD5	10322	broad.mit.edu	37	chr2	73449901	73449901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccaactggaacttctgCggagactcttcacagaggcc	12	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73449901C>T	ENST00000389501.4	+	7	706	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	221							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGAACTTCTGCGGAGACTCTT	0.587													False	0	False	2:73449901	0	T	73449901	C	T	73449901	3	4	88	1	0	0	0	0	1	0	0	0	14905	759	27	1	687	1	SMYD5	2	73449901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251112	73449901	169749472	2444	10156											
SMYD5	10322	broad.mit.edu	37	chr2	73450209	73450209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctctttgctcttgttgggAccaatggccaaggaatcggg	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73450209A>G	ENST00000389501.4	+	8	796	c.751A>G	c.(751-753)Acc>Gcc	p.T251A		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	251	SET.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TCTTGTTGGGACCAATGGCCA	0.483													False	0	True	2:73450209	0	G	73450209	A	G	73450209	3	3	88	1	0	0	0	0	1	0	0	0	14905	275	10	4	781	4	SMYD5	2	73450209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	308	73450209	169749164	2445	10157											
CCT7	10574	broad.mit.edu	37	chr2	73470188	73470188	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagagtttctgaagcaggtGaaaccctatgtggaggaagg	15	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73470188G>A	ENST00000539919.1	+	5	563	c.192G>A	c.(190-192)gtG>gtA	p.V64V	CCT7_ENST00000537131.1_Silent_p.V8V|CCT7_ENST00000540468.1_Silent_p.V21V|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000258091.5_Silent_p.V108V	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	108					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGAAGCAGGTGAAACCCTATG	0.512													False	0	True	2:73470188	0	A	73470188	G	A	73470188	2	1	88	1	0	0	0	0	0	0	0	1	2982	1277	45	2		2	CCT7	2	73470188	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19979	73470188	169729185	2446	10158											
CCT7	10574	broad.mit.edu	37	chr2	73471724	73471724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgctctgagctccaagCtgatctcccagcagaaagct	9	14	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73471724C>A	ENST00000539919.1	+	7	738	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	CCT7_ENST00000537131.1_Missense_Mutation_p.L67M|CCT7_ENST00000540468.1_Missense_Mutation_p.L80M|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000538797.1_Missense_Mutation_p.L39M|CCT7_ENST00000258091.5_Missense_Mutation_p.L167M	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	167					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GAGCTCCAAGCTGATCTCCCA	0.488													False	0	False	2:73471724	0	A	73471724	C	A	73471724	3	1	88	1	0	0	0	0	1	0	0	0	2982	796	28	3	521	3	CCT7	2	73471724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1536	73471724	169727649	2447	10159											
CCT7	10574	broad.mit.edu	37	chr2	73476192	73476192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatccatcattctggagCcaaagttgtcttgtccaaac	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73476192C>T	ENST00000539919.1	+	9	1096	c.725C>T	c.(724-726)gCc>gTc	p.A242V	CCT7_ENST00000537131.1_Missense_Mutation_p.A186V|CCT7_ENST00000540468.1_Missense_Mutation_p.A199V|CCT7_ENST00000398422.2_Missense_Mutation_p.A82V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000538797.1_Missense_Mutation_p.A158V|CCT7_ENST00000258091.5_Missense_Mutation_p.A286V	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	286					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CATTCTGGAGCCAAAGTTGTC	0.483													False	0	False	2:73476192	0	T	73476192	C	T	73476192	3	4	88	1	0	0	0	0	1	0	0	0	2982	739	26	2	887	2	CCT7	2	73476192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4468	73476192	169723181	2448	10160											
FBXO41	150726	broad.mit.edu	37	chr2	73486119	73486119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctacccgggttagcagccGccttccaccttgatgtgcag	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73486119G>A	ENST00000521871.1	-	13	3034	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	FBXO41_ENST00000295133.5_Silent_p.G934G|FBXO41_ENST00000520530.2_Silent_p.G873G			Q8TF61	FBX41_HUMAN	F-box protein 41	873						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GTTAGCAGCCGCCTTCCACCT	0.642													False	0	False	2:73486119	0	A	73486119	G	A	73486119	2	1	88	1	0	0	0	0	0	0	0	1	5790	1074	38	1		1	FBXO41	2	73486119	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9927	73486119	169713254	2449	10161											
EGR4	1961	broad.mit.edu	37	chr2	73519155	73519155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaactctccgccgtcgccGctactccctccctccccact	5	22	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73519155G>A	ENST00000436467.2	-	2	1278	c.891C>T	c.(889-891)agC>agT	p.S297S	EGR4_ENST00000545030.1_Silent_p.S400S			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	296						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGCCGTCGCCGCTACTCCCTC	0.701													False	0	False	2:73519155	0	A	73519155	G	A	73519155	2	1	88	1	0	0	0	0	0	0	0	1	5004	1078	38	1		1	EGR4	2	73519155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33036	73519155	169680218	2450	10162											
EGR4	1961	broad.mit.edu	37	chr2	73519670	73519670	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggaaaaggggcatccaGcggggatctggacgctgctg	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73519670G>A	ENST00000436467.2	-	2	763	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L	EGR4_ENST00000545030.1_Silent_p.L229L			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	125						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGGCATCCAGCGGGGATCTG	0.667													False	0	False	2:73519670	0	A	73519670	G	A	73519670	2	1	88	1	0	0	0	0	0	0	0	1	5004	962	34	2		2	EGR4	2	73519670	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	515	73519670	169679703	2451	10163											
ALMS1	7840	broad.mit.edu	37	chr2	73675536	73675536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctactcacatagagagaagCctggtactttttaccaacaa	6	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73675536C>T	ENST00000264448.6	+	8	1990	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P585S|ALMS1_ENST00000377715.1_Missense_Mutation_p.P627S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	627	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAGAGAGAAGCCTGGTACTTT	0.473													False	0	False	2:73675536	0	T	73675536	C	T	73675536	3	4	88	1	0	0	0	0	1	0	0	0	535	739	26	2	1909	2	ALMS1	2	73675536	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155866	73675536	169523837	2452	10164											
ALMS1	7840	broad.mit.edu	37	chr2	73718408	73718408	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattgaccagtaaacctgtaGcacaggatcaagaatcttta	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73718408G>T	ENST00000264448.6	+	10	9430	c.9319G>T	c.(9319-9321)Gca>Tca	p.A3107S	ALMS1_ENST00000409009.1_Missense_Mutation_p.A3065S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3107					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAAACCTGTAGCACAGGATCA	0.393													False	0	False	2:73718408	0	T	73718408	G	T	73718408	3	4	88	1	0	0	0	0	1	0	0	0	535	971	34	3	9357	3	ALMS1	2	73718408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42872	73718408	169480965	2453	10165											
ALMS1	7840	broad.mit.edu	37	chr2	73762007	73762007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaccaagatgtattatgttCcacaattaagacaaattcct	5	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73762007C>T	ENST00000264448.6	+	12	9946	c.9835C>T	c.(9835-9837)Cca>Tca	p.P3279S	ALMS1_ENST00000409009.1_Missense_Mutation_p.P3237S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3279					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTATTATGTTCCACAATTAAG	0.348													False	0	False	2:73762007	0	T	73762007	C	T	73762007	3	4	88	1	0	0	0	0	1	0	0	0	535	855	30	2	9881	2	ALMS1	2	73762007	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43599	73762007	169437366	2454	10166											
ALMS1	7840	broad.mit.edu	37	chr2	73828501	73828501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacggtcggggctacctgGcaggcccaggcagagaggct	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73828501G>A	ENST00000264448.6	+	19	12160	c.12049G>A	c.(12049-12051)Gca>Aca	p.A4017T	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.A3975T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4017					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGGCTACCTGGCAGGCCCAGG	0.572													False	0	False	2:73828501	0	A	73828501	G	A	73828501	3	1	88	1	0	0	0	0	1	0	0	0	535	1203	42	2	12123	2	ALMS1	2	73828501	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66494	73828501	169370872	2455	10167											
ALMS1	7840	broad.mit.edu	37	chr2	73829384	73829384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagcgcctgaagttaataGtccaggagaggaagctgcag	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73829384G>A	ENST00000264448.6	+	20	12295	c.12184G>A	c.(12184-12186)Gtc>Atc	p.V4062I	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.V4020I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4062					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAGTTAATAGTCCAGGAGAG	0.502													False	0	False	2:73829384	0	A	73829384	G	A	73829384	3	1	88	1	0	0	0	0	1	0	0	0	535	1029	36	2	12262	2	ALMS1	2	73829384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	883	73829384	169369989	2456	10168											
ACTG2	72	broad.mit.edu	37	chr2	74146577	74146577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattattgctcccccagagCggaagtactcagtctggatc	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74146577C>T	ENST00000409624.1	+	10	1649	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	ACTG2_ENST00000345517.3_Missense_Mutation_p.R336W|ACTG2_ENST00000409731.3_Missense_Mutation_p.R293W			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	336					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						TCCCCCAGAGCGGAAGTACTC	0.507													False	0	False	2:74146577	0	T	74146577	C	T	74146577	3	4	88	1	0	0	0	0	1	0	0	0	197	759	27	1	1036	1	ACTG2	2	74146577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317193	74146577	169052796	2457	10169											
TET3	200424	broad.mit.edu	37	chr2	74273825	74273825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacactgcagacggccctgGccctcgcgcggcatggtatg	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74273825G>A	ENST00000409262.3	+	1	376	c.376G>A	c.(376-378)Gcc>Acc	p.A126T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	126							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACGGCCCTGGCCCTCGCGCG	0.627													False	0	True	2:74273825	0	A	74273825	G	A	74273825	3	1	88	1	0	0	0	0	1	0	0	0	15853	1203	42	2	378	2	TET3	2	74273825	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127248	74273825	168925548	2458	10170											
TET3	200424	broad.mit.edu	37	chr2	74274777	74274777	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacagaccacccaaggagaAgaagaagaagctcccaacac	9	12	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74274777A>T	ENST00000409262.3	+	1	1328	c.1328A>T	c.(1327-1329)aAg>aTg	p.K443M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	443							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCAAGGAGAAGAAGAAGAAG	0.592													False	0	True	2:74274777	0	T	74274777	A	T	74274777	3	4	88	1	0	0	0	0	1	0	0	0	15853	72	3	5	1330	5	TET3	2	74274777	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	952	74274777	168924596	2459	10171											
MTHFD2	10797	broad.mit.edu	37	chr2	74435776	74435776	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgtaattaatgtaggaCgaatgtgtttggatcagtat	10	3	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74435776C>T	ENST00000394053.2	+	4	570	c.490C>T	c.(490-492)Cga>Tga	p.R164*	MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000264090.4_Nonsense_Mutation_p.R62*|MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000409804.1_Intron|MTHFD2_ENST00000409601.1_Nonsense_Mutation_p.R123*	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	164					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TAATGTAGGACGAATGTGTTT	0.418													False	0	False	2:74435776	0	T	74435776	C	T	74435776	4	4	88	1	0	0	0	0	0	1	0	0	9996	528	19	1	504	1	MTHFD2	2	74435776	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160999	74435776	168763597	2460	10172											
SLC4A5	57835	broad.mit.edu	37	chr2	74482960	74482960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgactggatgaggcgcaCgaacgcgatgaatggctggt	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74482960C>T	ENST00000394019.2	-	13	1364	c.967G>A	c.(967-969)Gtg>Atg	p.V323M	SLC4A5_ENST00000377632.1_Missense_Mutation_p.V323M|SLC4A5_ENST00000423644.1_Missense_Mutation_p.V323M|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V323M|SLC4A5_ENST00000357822.5_Missense_Mutation_p.V323M|SLC4A5_ENST00000359484.4_Missense_Mutation_p.V259M|SLC4A5_ENST00000377634.4_Missense_Mutation_p.V323M|SLC4A5_ENST00000358683.4_Missense_Mutation_p.V259M|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	323						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATGAGGCGCACGAACGCGATG	0.582													False	0	False	2:74482960	0	T	74482960	C	T	74482960	3	4	88	1	0	0	0	0	1	0	0	0	14737	536	19	1	2522	1	SLC4A5	2	74482960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47184	74482960	168716413	2461	10173											
SLC4A5	57835	broad.mit.edu	37	chr2	74491293	74491293	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgtggtggagactgacttCccaatgtcagctaaggagcg	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74491293C>T	ENST00000394019.2	-	10	1093	c.696G>A	c.(694-696)ggG>ggA	p.G232G	SLC4A5_ENST00000377632.1_Silent_p.G232G|SLC4A5_ENST00000423644.1_Silent_p.G232G|SLC4A5_ENST00000346834.4_Silent_p.G232G|SLC4A5_ENST00000357822.5_Silent_p.G232G|SLC4A5_ENST00000359484.4_Silent_p.G168G|SLC4A5_ENST00000377634.4_Silent_p.G232G|SLC4A5_ENST00000358683.4_Silent_p.G168G|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	232						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGACTGACTTCCCAATGTCAG	0.612													False	0	True	2:74491293	0	T	74491293	C	T	74491293	2	4	88	1	0	0	0	0	0	0	0	1	14737	842	30	2		2	SLC4A5	2	74491293	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8333	74491293	168708080	2462	10174											
SLC4A5	57835	broad.mit.edu	37	chr2	74491312	74491312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaatgtcagctaaggagCggtggatgggcttcttggtt	14	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74491312C>T	ENST00000394019.2	-	10	1074	c.677G>A	c.(676-678)cGc>cAc	p.R226H	SLC4A5_ENST00000377632.1_Missense_Mutation_p.R226H|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R226H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R226H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R226H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R162H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R226H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R162H|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	226						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCTAAGGAGCGGTGGATGGG	0.592													False	0	False	2:74491312	0	T	74491312	C	T	74491312	3	4	88	1	0	0	0	0	1	0	0	0	14737	768	27	1	2824	1	SLC4A5	2	74491312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	74491312	168708061	2463	10175											
SLC4A5	57835	broad.mit.edu	37	chr2	74491387	74491387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctcccggagctctggcCgcaggagaccatcctcaatc	9	18	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74491387C>T	ENST00000394019.2	-	10	999	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	SLC4A5_ENST00000377632.1_Missense_Mutation_p.R201Q|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R201Q|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R201Q|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R201Q|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R137Q|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R201Q|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R137Q|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	201						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAGCTCTGGCCGCAGGAGACC	0.547													False	0	False	2:74491387	0	T	74491387	C	T	74491387	3	4	88	1	0	0	0	0	1	0	0	0	14737	652	23	1	2899	1	SLC4A5	2	74491387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75	74491387	168707986	2464	10176											
DCTN1	1639	broad.mit.edu	37	chr2	74595911	74595911	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacgcagtcatggtccccacCtggccgaaggaagctgtcag	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74595911C>A	ENST00000361874.3	-	16	2115	c.1798G>T	c.(1798-1800)Ggt>Tgt	p.G600C	DCTN1_ENST00000394003.3_Missense_Mutation_p.G593C|DCTN1_ENST00000407639.2_Missense_Mutation_p.G466C|DCTN1_ENST00000409438.1_Missense_Mutation_p.G466C|DCTN1_ENST00000409567.3_Missense_Mutation_p.G580C|DCTN1_ENST00000409240.1_Missense_Mutation_p.G563C|DCTN1_ENST00000409868.1_Missense_Mutation_p.G583C	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	600					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGGTCCCCACCTGGCCGAAGG	0.522													False	0	False	2:74595911	0	A	74595911	C	A	74595911	3	1	88	1	0	0	0	0	1	0	0	0	4331	681	24	3	2106	3	DCTN1	2	74595911	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104524	74595911	168603462	2465	10177											
RTKN	6242	broad.mit.edu	37	chr2	74654384	74654384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttcatgatttcatcacaGcactgcttccattggcctgg	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74654384G>A	ENST00000305557.5	-	12	1818	c.1233C>T	c.(1231-1233)tgC>tgT	p.C411C	RTKN_ENST00000233330.6_Silent_p.C374C|RTKN_ENST00000272430.5_Silent_p.C424C	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	424	PH.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TTTCATCACAGCACTGCTTCC	0.498													False	0	False	2:74654384	0	A	74654384	G	A	74654384	2	1	88	1	0	0	0	0	0	0	0	1	13801	963	34	2		2	RTKN	2	74654384	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58473	74654384	168544989	2466	10178											
INO80B	83444	broad.mit.edu	37	chr2	74682672	74682672	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcagccgtcccctgccaaGcctcagctcaaactcaaaat	6	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74682672G>T	ENST00000233331.7	+	2	292	c.198G>T	c.(196-198)aaG>aaT	p.K66N	INO80B_ENST00000409917.1_Missense_Mutation_p.K66N|INO80B_ENST00000469849.1_Intron	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	66					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CCCCTGCCAAGCCTCAGCTCA	0.507													False	0	False	2:74682672	0	T	74682672	G	T	74682672	3	4	88	1	0	0	0	0	1	0	0	0	7797	962	34	3	204	3	INO80B	2	74682672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28288	74682672	168516701	2467	10179											
MOGS	7841	broad.mit.edu	37	chr2	74689272	74689272	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggcctgcctggctctgatgGagccaggaaaaccaggcatg	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74689272G>T	ENST00000233616.4	-	4	1806	c.1644C>A	c.(1642-1644)ctC>ctA	p.L548L	MOGS_ENST00000452063.2_Silent_p.L442L|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	548					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCTCTGATGGAGCCAGGAAA	0.597													False	0	False	2:74689272	0	T	74689272	G	T	74689272	2	4	88	1	0	0	0	0	0	0	0	1	9764	1161	41	3		3	MOGS	2	74689272	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6600	74689272	168510101	2468	10180											
MOGS	7841	broad.mit.edu	37	chr2	74691694	74691694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcctcttgacgaactcagTggtgagccttaaggccccat	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74691694T>C	ENST00000233616.4	-	2	670	c.508A>G	c.(508-510)Act>Gct	p.T170A	MOGS_ENST00000462443.1_Intron|MOGS_ENST00000452063.2_Missense_Mutation_p.T64A|MOGS_ENST00000535045.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.T170A	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	170					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						ACGAACTCAGTGGTGAGCCTT	0.627													False	0	False	2:74691694	0	C	74691694	T	C	74691694	3	2	88	1	0	0	0	0	1	0	0	0	9764	1696	59	4	2017	4	MOGS	2	74691694	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2422	74691694	168507679	2469	10181											
CCDC142	84865	broad.mit.edu	37	chr2	74702391	74702391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagaatgtggtcaagccagGcacccacgatggccgtcaga	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74702391G>A	ENST00000393965.3	-	7	2153	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	CCDC142_ENST00000290418.4_Missense_Mutation_p.A579V	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	586										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GTCAAGCCAGGCACCCACGAT	0.582													False	0	False	2:74702391	0	A	74702391	G	A	74702391	3	1	88	1	0	0	0	0	1	0	0	0	2796	1203	42	2	507	2	CCDC142	2	74702391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10697	74702391	168496982	2470	10182											
TTC31	64427	broad.mit.edu	37	chr2	74719130	74719130	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactttgcaccctatccccaGgcatctccgggactgctggc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74719130G>T	ENST00000410003.1	+	9	885		c.e9-1		TTC31_ENST00000442235.2_Intron|TTC31_ENST00000233623.5_Splice_Site			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31								binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CCTATCCCCAGGCATCTCCGG	0.542													False	0	False	2:74719130	0	T	74719130	G	T	74719130	5	4	88	1	0	0	0	0	0	0	1	0	16784	1014	35	3	910	3	TTC31	2	74719130	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16739	74719130	168480243	2471	10183											
DQX1	165545	broad.mit.edu	37	chr2	74749838	74749838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagatctgacaggtccccaTcatcatccagggctgccaga	9	15	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74749838T>C	ENST00000404568.3	-	8	1583	c.1364A>G	c.(1363-1365)gAt>gGt	p.D455G	DQX1_ENST00000393951.2_Missense_Mutation_p.D455G	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	455						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CAGGTCCCCATCATCATCCAG	0.527													False	0	True	2:74749838	0	C	74749838	T	C	74749838	3	2	88	1	0	0	0	0	1	0	0	0	4781	1435	50	4	809	4	DQX1	2	74749838	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30708	74749838	168449535	2472	10184											
DQX1	165545	broad.mit.edu	37	chr2	74751381	74751381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaccagcacgccccaggctCcagtgcctcgggtcgaggcc	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74751381C>T	ENST00000404568.3	-	4	704	c.485G>A	c.(484-486)gGa>gAa	p.G162E	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.G162E	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	162	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GCCCCAGGCTCCAGTGCCTCG	0.592													False	0	False	2:74751381	0	T	74751381	C	T	74751381	3	4	88	1	0	0	0	0	1	0	0	0	4781	855	30	2	1704	2	DQX1	2	74751381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1543	74751381	168447992	2473	10185											
HTRA2	27429	broad.mit.edu	37	chr2	74757547	74757547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgccgccgtccctagcccGccgcccgcttctccccggag	10	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74757547G>A	ENST00000258080.3	+	1	1044	c.414G>A	c.(412-414)ccG>ccA	p.P138P	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Silent_p.P138P	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	138					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCCCTAGCCCGCCGCCCGCTT	0.672													False	0	True	2:74757547	0	A	74757547	G	A	74757547	2	1	88	1	0	0	0	0	0	0	0	1	7504	1074	38	1		1	HTRA2	2	74757547	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6166	74757547	168441826	2474	10186											
LOXL3	84695	broad.mit.edu	37	chr2	74762766	74762766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgcctacaggccaccatGgcctccagggtcccccagtc	10	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74762766G>A	ENST00000264094.3	-	8	1436	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Silent_p.A310A|LOXL3_ENST00000409986.1_Silent_p.A310A|LOXL3_ENST00000409549.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	455	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGGCCACCATGGCCTCCAGGG	0.647													False	0	False	2:74762766	0	A	74762766	G	A	74762766	2	1	88	1	0	0	0	0	0	0	0	1	8963	1335	47	2		2	LOXL3	2	74762766	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5219	74762766	168436607	2475	10187											
HK2	3099	broad.mit.edu	37	chr2	75094762	75094762	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcccttcctttctctgcaGaacacggagagttcctggct	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75094762G>T	ENST00000290573.2	+	3	826		c.e3-1		HK2_ENST00000409174.1_Splice_Site	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2						apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTTCTCTGCAGAACACGGAGA	0.488													False	0	False	2:75094762	0	T	75094762	G	T	75094762	5	4	88	1	0	0	0	0	0	0	1	0	7238	956	33	3	236	3	HK2	2	75094762	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331996	75094762	168104611	2476	10188											
HK2	3099	broad.mit.edu	37	chr2	75104365	75104366	+	In_Frame_Ins	INS	-	-	TAA													tggtgaagatggccaaggagINSgagctgctctttggggggaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75104365_75104366insTAA	ENST00000409174.1	+	8	1054_1055	c.864_865insTAA	c.(865-867)gag>TAAgag	p.288_289ins*	HK2_ENST00000290573.2_In_Frame_Ins_p.316_317ins*			P52789	HXK2_HUMAN	hexokinase 2	316	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGGCCAAGGAGGAGCTGCTCTT	0.53													False	0	False	2:75104365	0	TAA	75104366	-	TAA	75104365	7	5	88	1	0	1	1	0	0	0	0	0	7238	991	35	0	978	0	HK2	2	75104365	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	9603	75104365	168095008	2477	10189											
HK2	3099	broad.mit.edu	37	chr2	75105841	75105841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggcatccggaaggcccGtgaggtcctgatgcggttgg	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75105841G>A	ENST00000290573.2	+	9	1658	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	HK2_ENST00000409174.1_Missense_Mutation_p.R325H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	353	Regulatory.		R -> C.		apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CGGAAGGCCCGTGAGGTCCTG	0.632													False	0	True	2:75105841	0	A	75105841	G	A	75105841	3	1	88	1	0	0	0	0	1	0	0	0	7238	1145	40	1	1092	1	HK2	2	75105841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1476	75105841	168093532	2478	10190											
TACR1	6869	broad.mit.edu	37	chr2	75425709	75425709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcatggagtagatactggCgaagacagcggcgatgggaa	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425709C>T	ENST00000305249.5	-	1	1117	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGATACTGGCGAAGACAGCG	0.498													False	0	False	2:75425709	0	T	75425709	C	T	75425709	3	4	88	1	0	0	0	0	1	0	0	0	15587	768	27	1	895	1	TACR1	2	75425709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319868	75425709	167773664	2479	10191											
TACR1	6869	broad.mit.edu	37	chr2	75425831	75425831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagccatggaggcctccGcgaaggccaggttcaccaga	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425831G>A	ENST00000305249.5	-	1	995	c.230C>T	c.(229-231)gCg>gTg	p.A77V	TACR1_ENST00000409848.3_Missense_Mutation_p.A77V	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGAGGCCTCCGCGAAGGCCAG	0.502													False	0	False	2:75425831	0	A	75425831	G	A	75425831	3	1	88	1	0	0	0	0	1	0	0	0	15587	1087	38	1	1017	1	TACR1	2	75425831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122	75425831	167773542	2480	10192											
LRRTM4	80059	broad.mit.edu	37	chr2	77745858	77745858	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctagggataatcagaggtttCtggggagtttggggcaccag	16	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:77745858C>A	ENST00000409088.3	-	3	1551	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q379H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q380H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q379H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q380H	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	379						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCAGAGGTTTCTGGGGAGTTT	0.483													False	0	True	2:77745858	0	A	77745858	C	A	77745858	3	1	88	1	0	0	0	0	1	0	0	0	9104	912	32	3	649	3	LRRTM4	2	77745858	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2320027	77745858	165453515	2481	10193											
REG3G	130120	broad.mit.edu	37	chr2	79253879	79253879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccctctccacggatcagCtgtcccaaaggctccaaggc	9	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79253879C>A	ENST00000272324.5	+	3	301	c.117C>A	c.(115-117)agC>agA	p.S39R	REG3G_ENST00000393897.2_Missense_Mutation_p.S39R|REG3G_ENST00000409471.1_Missense_Mutation_p.S39R	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	39					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CACGGATCAGCTGTCCCAAAG	0.527													False	0	False	2:79253879	0	A	79253879	C	A	79253879	3	1	88	1	0	0	0	0	1	0	0	0	13292	796	28	3	123	3	REG3G	2	79253879	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1508021	79253879	163945494	2482	10194											
REG1A	5967	broad.mit.edu	37	chr2	79347941	79347941	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttctctgtgttctcctataGagattgttgatttgcctctt	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79347941G>A	ENST00000233735.1	+	2	57		c.e2-1			NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha						positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TTCTCCTATAGAGATTGTTGA	0.458													False	0	False	2:79347941	0	A	79347941	G	A	79347941	5	1	88	1	0	0	0	0	0	0	1	0	13289	956	33	2		2	REG1A	2	79347941	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94062	79347941	163851432	2483	10195											
REG1A	5967	broad.mit.edu	37	chr2	79348758	79348758	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccaatgcctatcgctcCtactgctactactttaatga	6	13	0	1	rs11557479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79348758C>A	ENST00000233735.1	+	3	238	c.135C>A	c.(133-135)tcC>tcA	p.S45S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	45	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCTATCGCTCCTACTGCTACT	0.537													False	0	False	2:79348758	0	A	79348758	C	A	79348758	2	1	88	1	0	0	0	0	0	0	0	1	13289	668	24	3		3	REG1A	2	79348758	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	817	79348758	163850615	2484	10196											
REG1A	5967	broad.mit.edu	37	chr2	79350005	79350005	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagtgggtccctggtctcCtacaagtcctggggcattgg	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79350005C>A	ENST00000233735.1	+	5	463	c.360C>A	c.(358-360)tcC>tcA	p.S120S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	120	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCCTGGTCTCCTACAAGTCCT	0.567													False	0	False	2:79350005	0	A	79350005	C	A	79350005	2	1	88	1	0	0	0	0	0	0	0	1	13289	668	24	3		3	REG1A	2	79350005	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1247	79350005	163849368	2485	10197											
CTNNA2	1496	broad.mit.edu	37	chr2	80085159	80085159	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgagacgatgcggatcgccTcctccgagtttgcagatgac	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80085159T>G	ENST00000466387.1	+	8	1043	c.319T>G	c.(319-321)Tcc>Gcc	p.S107A	CTNNA2_ENST00000402739.4_Missense_Mutation_p.S107A|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S141A|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S107A|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S107A			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	107					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCGGATCGCCTCCTCCGAGTT	0.572													False	0	False	2:80085159	0	G	80085159	T	G	80085159	3	3	88	1	0	0	0	0	1	0	0	0	4038	1551	54	4	329	4	CTNNA2	2	80085159	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	735154	80085159	163114214	2486	10198											
CTNNA2	1496	broad.mit.edu	37	chr2	80101316	80101316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccgccacccagatgtcGccgctacgagagccaaccga	9	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80101316G>A	ENST00000466387.1	+	10	1424	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	CTNNA2_ENST00000402739.4_Missense_Mutation_p.A234T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A268T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A234T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A234T			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	234					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCCAGATGTCGCCGCTACGAG	0.577													False	0	False	2:80101316	0	A	80101316	G	A	80101316	3	1	88	1	0	0	0	0	1	0	0	0	4038	1087	38	1	718	1	CTNNA2	2	80101316	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16157	80101316	163098057	2487	10199											
LRRTM1	347730	broad.mit.edu	37	chr2	80529833	80529833	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggccgagagcaggtggccgCtggtgggctcggccccatcc	17	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80529833C>A	ENST00000295057.3	-	2	1768	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S371I|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	371						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CAGGTGGCCGCTGGTGGGCTC	0.726										HNSCC(69;0.2)			False	0	False	2:80529833	0	A	80529833	C	A	80529833	3	1	88	1	0	0	0	0	1	0	0	0	9101	797	28	3	460	3	LRRTM1	2	80529833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428517	80529833	162669540	2488	10200											
LRRTM1	347730	broad.mit.edu	37	chr2	80530750	80530750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggacaagcccagcaggccGgacaggttgtggggcgcctc	17	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80530750G>A	ENST00000295057.3	-	2	851	c.195C>T	c.(193-195)tcC>tcT	p.S65S	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S65S|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	65	LRRNT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCAGCAGGCCGGACAGGTTGT	0.692										HNSCC(69;0.2)			False	0	False	2:80530750	0	A	80530750	G	A	80530750	2	1	88	1	0	0	0	0	0	0	0	1	9101	1103	39	1		1	LRRTM1	2	80530750	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	917	80530750	162668623	2489	10201											
LRRTM1	347730	broad.mit.edu	37	chr2	80530896	80530896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaagaccacccccgaggGcctcctcagcagccagtata	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80530896G>A	ENST00000295057.3	-	2	705	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P17S|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	17						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ACCCCCGAGGGCCTCCTCAGC	0.632										HNSCC(69;0.2)			False	0	True	2:80530896	0	A	80530896	G	A	80530896	3	1	88	1	0	0	0	0	1	0	0	0	9101	1203	42	2	1523	2	LRRTM1	2	80530896	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	80530896	162668477	2490	10202											
CTNNA2	1496	broad.mit.edu	37	chr2	80646714	80646714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttccgtgagcatgccaaCaaactggtagaggtaagtgt	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80646714C>T	ENST00000466387.1	+	13	2002	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	CTNNA2_ENST00000402739.4_Silent_p.N426N|CTNNA2_ENST00000496558.1_Silent_p.N426N|CTNNA2_ENST00000361291.4_Silent_p.N460N|CTNNA2_ENST00000541047.1_Silent_p.N426N|CTNNA2_ENST00000540488.1_Silent_p.N426N|CTNNA2_ENST00000343114.3_Silent_p.N105N			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	426					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.N426K(3)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCATGCCAACAAACTGGTAG	0.433													False	0	True	2:80646714	0	T	80646714	C	T	80646714	2	4	88	1	0	0	0	0	0	0	0	1	4038	477	17	2		2	CTNNA2	2	80646714	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115818	80646714	162552659	2491	10203											
CTNNA2	1496	broad.mit.edu	37	chr2	80874927	80874927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attccagacacgagttcgacGaggttctcagaagaaacaca	9	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80874927G>A	ENST00000466387.1	+	22	3372	c.2648G>A	c.(2647-2649)cGa>cAa	p.R883Q	CTNNA2_ENST00000402739.4_Missense_Mutation_p.R931Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R917Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R838Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R562Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	931					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.G932A(1)|p.R883P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGAGTTCGACGAGGTTCTCAG	0.438													False	0	False	2:80874927	0	A	80874927	G	A	80874927	3	1	88	1	0	0	0	0	1	0	0	0	4038	1058	37	1	2506	1	CTNNA2	2	80874927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228213	80874927	162324446	2492	10204											
SUCLG1	8802	broad.mit.edu	37	chr2	84668499	84668499	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacaaccaagggaatttctgCctcaatagcttcattaatgg	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84668499C>A	ENST00000393868.2	-	4	613	c.403G>T	c.(403-405)Gca>Tca	p.A135S		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	135					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	GGAATTTCTGCCTCAATAGCT	0.473													False	0	False	2:84668499	0	A	84668499	C	A	84668499	3	1	88	1	0	0	0	0	1	0	0	0	15446	739	26	3	661	3	SUCLG1	2	84668499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3793572	84668499	158530874	2493	10205											
SUCLG1	8802	broad.mit.edu	37	chr2	84668576	84668576	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagccgttgctcctgtctgtTctttggcctgaaacattaac	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84668576T>G	ENST00000393868.2	-	4	536	c.326A>C	c.(325-327)gAa>gCa	p.E109A		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	109					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TCCTGTCTGTTCTTTGGCCTG	0.378													False	0	True	2:84668576	0	G	84668576	T	G	84668576	3	3	88	1	0	0	0	0	1	0	0	0	15446	1783	62	4	738	4	SUCLG1	2	84668576	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77	84668576	158530797	2494	10206											
DNAH6	1768	broad.mit.edu	37	chr2	84777068	84777068	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgcacatcttaacggtaAatgctgttaattcgcttttg	7	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84777068A>C	ENST00000389394.3	+	9	1509	c.1372A>C	c.(1372-1374)Aat>Cat	p.N458H	DNAH6_ENST00000237449.6_Missense_Mutation_p.N458H|DNAH6_ENST00000398278.2_Missense_Mutation_p.N458H	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	458	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTTAACGGTAAATGCTGTTAA	0.343													False	0	True	2:84777068	0	C	84777068	A	C	84777068	3	2	88	1	0	0	0	0	1	0	0	0	4635	14	1	4	1402	4	DNAH6	2	84777068	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108492	84777068	158422305	2495	10207											
DNAH6	1768	broad.mit.edu	37	chr2	84811238	84811238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttgcaactatgaagccatCcattgttgctgttcggaatg	9	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84811238C>T	ENST00000389394.3	+	15	2482	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	DNAH6_ENST00000237449.6_Missense_Mutation_p.S782F|DNAH6_ENST00000398278.2_Missense_Mutation_p.S782F	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	782	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATGAAGCCATCCATTGTTGCT	0.398													False	0	True	2:84811238	0	T	84811238	C	T	84811238	3	4	88	1	0	0	0	0	1	0	0	0	4635	855	30	2	2399	2	DNAH6	2	84811238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34170	84811238	158388135	2496	10208											
DNAH6	1768	broad.mit.edu	37	chr2	84811312	84811312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattaagcaattttgtgtgCatttgggtagtgatcttgaa	11	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84811312C>T	ENST00000389394.3	+	15	2556	c.2419C>T	c.(2419-2421)Cat>Tat	p.H807Y	DNAH6_ENST00000237449.6_Missense_Mutation_p.H807Y|DNAH6_ENST00000398278.2_Missense_Mutation_p.H807Y	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	807	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTTTGTGTGCATTTGGGTAG	0.348													False	0	True	2:84811312	0	T	84811312	C	T	84811312	3	4	88	1	0	0	0	0	1	0	0	0	4635	710	25	2	2473	2	DNAH6	2	84811312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	84811312	158388061	2497	10209											
TMSB10	9168	broad.mit.edu	37	chr2	85133188	85133188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcgccagcttcgataaggCcaagctgaagaaaacggaga	11	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85133188C>T	ENST00000233143.4	+	2	156	c.47C>T	c.(46-48)gCc>gTc	p.A16V		NM_021103.3	NP_066926.1	P63313	TYB10_HUMAN	thymosin beta 10	16					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			endometrium(1)	1						TTCGATAAGGCCAAGCTGAAG	0.582													False	0	False	2:85133188	0	T	85133188	C	T	85133188	3	4	88	1	0	0	0	0	1	0	0	0	16336	739	26	2	49	2	TMSB10	2	85133188	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	321876	85133188	158066185	2498	10210											
TCF7L1	83439	broad.mit.edu	37	chr2	85532507	85532507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaaccggcaccccccagcCtgagccctgcagtgagcgtg	13	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85532507C>A	ENST00000282111.3	+	8	1245	c.970C>A	c.(970-972)Ctg>Atg	p.L324M		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	324	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ACCCCCCAGCCTGAGCCCTGC	0.652													False	0	False	2:85532507	0	A	85532507	C	A	85532507	3	1	88	1	0	0	0	0	1	0	0	0	15779	680	24	3	1000	3	TCF7L1	2	85532507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399319	85532507	157666866	2499	10211											
TCF7L1	83439	broad.mit.edu	37	chr2	85536398	85536398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccttcctgtcggctaaggCtgcagcctcctcctctgggc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85536398C>T	ENST00000282111.3	+	12	1855	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	527					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TCGGCTAAGGCTGCAGCCTCC	0.692													False	0	False	2:85536398	0	T	85536398	C	T	85536398	3	4	88	1	0	0	0	0	1	0	0	0	15779	797	28	2	1626	2	TCF7L1	2	85536398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3891	85536398	157662975	2500	10212											
RETSAT	54884	broad.mit.edu	37	chr2	85570385	85570385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaattctttttcttctgtgCccggatcctagaatcaagat	6	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85570385C>T	ENST00000295802.4	-	11	1925	c.1813G>A	c.(1813-1815)Gca>Aca	p.A605T	RETSAT_ENST00000457495.2_Missense_Mutation_p.A544T|RETSAT_ENST00000263854.6_3'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	605					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCTTCTGTGCCCGGATCCTA	0.512													False	0	True	2:85570385	0	T	85570385	C	T	85570385	3	4	88	1	0	0	0	0	1	0	0	0	13317	739	26	2	23	2	RETSAT	2	85570385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33987	85570385	157628988	2501	10213											
RETSAT	54884	broad.mit.edu	37	chr2	85578815	85578815	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agccttacctgtgtcaaattCaaggccattctttccaaagg	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85578815C>T	ENST00000295802.4	-	2	455	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RETSAT_ENST00000457495.2_Intron|RETSAT_ENST00000263854.6_Missense_Mutation_p.E115K	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	115					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GTGTCAAATTCAAGGCCATTC	0.507													False	0	False	2:85578815	0	T	85578815	C	T	85578815	3	4	88	1	0	0	0	0	1	0	0	0	13317	835	29	2	1529	2	RETSAT	2	85578815	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8430	85578815	157620558	2502	10214											
ELMOD3	84173	broad.mit.edu	37	chr2	85598230	85598230	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagaatccagccaactattCgaaggactgggctcgccgcc	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85598230C>T	ENST00000315658.7	+	7	641	c.382C>T	c.(382-384)Cga>Tga	p.R128*	ELMOD3_ENST00000428955.2_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409344.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409890.2_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409013.3_Nonsense_Mutation_p.R128*	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	128					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GCCAACTATTCGAAGGACTGG	0.547													False	0	False	2:85598230	0	T	85598230	C	T	85598230	4	4	88	1	0	0	0	0	0	1	0	0	5102	876	31	1	404	1	ELMOD3	2	85598230	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19415	85598230	157601143	2503	10215											
GGCX	2677	broad.mit.edu	37	chr2	85780133	85780133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacgtgctggtgggagcGggagtgcaccatcatgtccc	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85780133G>A	ENST00000233838.4	-	9	1296	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.R349C	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	TGGTGGGAGCGGGAGTGCACC	0.542													False	0	True	2:85780133	0	A	85780133	G	A	85780133	3	1	88	1	0	0	0	0	1	0	0	0	6401	1116	39	1	1088	1	GGCX	2	85780133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181903	85780133	157419240	2504	10216											
TMEM150A	129303	broad.mit.edu	37	chr2	85826704	85826704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttcgcagataggccacaGccaggtccagcggggcggtg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85826704G>T	ENST00000409668.1	-	6	985	c.518C>A	c.(517-519)gCt>gAt	p.A173D	TMEM150A_ENST00000306353.3_Missense_Mutation_p.A120D|TMEM150A_ENST00000334462.5_Missense_Mutation_p.A173D			Q86TG1	T150A_HUMAN	transmembrane protein 150A	173						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						ATAGGCCACAGCCAGGTCCAG	0.612													False	0	False	2:85826704	0	T	85826704	G	T	85826704	3	4	88	1	0	0	0	0	1	0	0	0	16149	971	34	3	305	3	TMEM150A	2	85826704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46571	85826704	157372669	2505	10217											
TMEM150A	129303	broad.mit.edu	37	chr2	85827121	85827121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggagctgcccgtagcGcaggaggcagatcagggcca	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85827121G>A	ENST00000409668.1	-	5	756	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	TMEM150A_ENST00000306353.3_Missense_Mutation_p.R44C|TMEM150A_ENST00000334462.5_Missense_Mutation_p.R97C			Q86TG1	T150A_HUMAN	transmembrane protein 150A	97						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						TGCCCGTAGCGCAGGAGGCAG	0.652													False	0	False	2:85827121	0	A	85827121	G	A	85827121	3	1	88	1	0	0	0	0	1	0	0	0	16149	1087	38	1	538	1	TMEM150A	2	85827121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	417	85827121	157372252	2506	10218											
SFTPB	6439	broad.mit.edu	37	chr2	85890797	85890797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggctcacttgggccagcGctgtcatccatggagcaccg	14	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85890797G>A	ENST00000393822.3	-	8	981	c.882C>T	c.(880-882)agC>agT	p.S294S	SFTPB_ENST00000409383.1_Silent_p.S294S|SFTPB_ENST00000519937.2_Silent_p.S282S|SFTPB_ENST00000342375.3_Silent_p.S282S			P07988	PSPB_HUMAN	surfactant protein B	282					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TTGGGCCAGCGCTGTCATCCA	0.662													False	0	False	2:85890797	0	A	85890797	G	A	85890797	2	1	88	1	0	0	0	0	0	0	0	1	14272	1078	38	1		1	SFTPB	2	85890797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63676	85890797	157308576	2507	10219											
ST3GAL5	8869	broad.mit.edu	37	chr2	86094728	86094728	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacgtgtgatggggacttacGaacagaagccatgtcctggg	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86094728G>A	ENST00000393808.3	-	1	49	c.13C>T	c.(13-15)Cca>Tca	p.P5S	ST3GAL5_ENST00000484728.1_Intron|ST3GAL5_ENST00000377332.3_Intron|ST3GAL5_ENST00000525834.2_Intron|ST3GAL5_ENST00000393805.1_Intron	NM_001042437.1	NP_001035902.1	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	0					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ggggacttacgaacagaagcc	0.522													False	0	False	2:86094728	0	A	86094728	G	A	86094728	5	1	88	1	0	0	0	0	0	0	1	0	15300	1072	37	1	1202	1	ST3GAL5	2	86094728	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203931	86094728	157104645	2508	10220											
POLR1A	25885	broad.mit.edu	37	chr2	86266459	86266459	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagacgttacctcccccaaGcacaccctggtgagttgctt	9	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86266459G>T	ENST00000263857.6	-	26	4245	c.3867C>A	c.(3865-3867)tgC>tgA	p.C1289*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C1289*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1289					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTCCCCCAAGCACACCCTGG	0.537													False	0	False	2:86266459	0	T	86266459	G	T	86266459	4	4	88	1	0	0	0	0	0	1	0	0	12278	963	34	3	1331	3	POLR1A	2	86266459	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	171731	86266459	156932914	2509	10221											
POLR1A	25885	broad.mit.edu	37	chr2	86281383	86281383	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtgggatgtggtcctctggGattatatttatgagcagcgt	14	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86281383G>T	ENST00000263857.6	-	15	2466	c.2088C>A	c.(2086-2088)atC>atA	p.I696I	POLR1A_ENST00000409681.1_Silent_p.I696I|POLR1A_ENST00000483538.1_5'UTR			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	696					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGTCCTCTGGGATTATATTTA	0.453													False	0	True	2:86281383	0	T	86281383	G	T	86281383	2	4	88	1	0	0	0	0	0	0	0	1	12278	1164	41	3		3	POLR1A	2	86281383	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14924	86281383	156917990	2510	10222											
POLR1A	25885	broad.mit.edu	37	chr2	86302248	86302248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtccacagcgctcagggCtgtgcggctgccgtcctcat	12	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86302248C>T	ENST00000263857.6	-	12	1894	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T	POLR1A_ENST00000409681.1_Missense_Mutation_p.A506T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	506					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCGCTCAGGGCTGTGCGGCTG	0.602													False	0	True	2:86302248	0	T	86302248	C	T	86302248	3	4	88	1	0	0	0	0	1	0	0	0	12278	797	28	2	3738	2	POLR1A	2	86302248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20865	86302248	156897125	2511	10223											
POLR1A	25885	broad.mit.edu	37	chr2	86310237	86310237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggcagaaaggtgttcgCgggcactggtgggtgttaag	18	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86310237C>T	ENST00000263857.6	-	7	1163	c.785G>A	c.(784-786)cGc>cAc	p.R262H	POLR1A_ENST00000409681.1_Missense_Mutation_p.R262H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	262					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AAGGTGTTCGCGGGCACTGGT	0.453													False	0	True	2:86310237	0	T	86310237	C	T	86310237	3	4	88	1	0	0	0	0	1	0	0	0	12278	768	27	1	4489	1	POLR1A	2	86310237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7989	86310237	156889136	2512	10224											
POLR1A	25885	broad.mit.edu	37	chr2	86325797	86325797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacttccagaaccctcagCtggcagagtaagaggtgaat	11	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86325797C>T	ENST00000263857.6	-	3	747	c.369G>A	c.(367-369)caG>caA	p.Q123Q	POLR1A_ENST00000409681.1_Silent_p.Q123Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	123					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAACCCTCAGCTGGCAGAGTA	0.532													False	0	False	2:86325797	0	T	86325797	C	T	86325797	2	4	88	1	0	0	0	0	0	0	0	1	12278	796	28	2		2	POLR1A	2	86325797	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15560	86325797	156873576	2513	10225											
PTCD3	55037	broad.mit.edu	37	chr2	86354302	86354302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctgctaagacacatgGttgcacagaaggtgaaacca	12	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86354302G>A	ENST00000254630.7	+	13	1036	c.970G>A	c.(970-972)Gtt>Att	p.V324I	PTCD3_ENST00000409277.3_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	324						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						AAGACACATGGTTGCACAGAA	0.368													False	0	False	2:86354302	0	A	86354302	G	A	86354302	3	1	88	1	0	0	0	0	1	0	0	0	12805	1261	44	2	1020	2	PTCD3	2	86354302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28505	86354302	156845071	2514	10226											
IMMT	10989	broad.mit.edu	37	chr2	86371725	86371725	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctatttctggtttcatcaAtcattgctacccttcgggcc	7	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86371725A>G	ENST00000410111.3	-	15	2330	c.1943T>C	c.(1942-1944)aTt>aCt	p.I648T	IMMT_ENST00000449247.2_Missense_Mutation_p.I637T|IMMT_ENST00000409051.2_Missense_Mutation_p.I601T|IMMT_ENST00000254636.5_Missense_Mutation_p.I549T|IMMT_ENST00000442664.2_Missense_Mutation_p.I647T	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	648						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTTTCATCAATCATTGCTAC	0.532													False	0	True	2:86371725	0	G	86371725	A	G	86371725	3	3	88	1	0	0	0	0	1	0	0	0	7768	101	4	4	337	4	IMMT	2	86371725	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17423	86371725	156827648	2515	10227											
REEP1	65055	broad.mit.edu	37	chr2	86459903	86459903	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatgctgaagctccgcagtCtctccgataaggcaccctgt	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86459903C>A	ENST00000165698.5	-	6	583	c.440G>T	c.(439-441)aGa>aTa	p.R147I	REEP1_ENST00000535845.1_Missense_Mutation_p.R120I|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000540790.1_Missense_Mutation_p.R126I|REEP1_ENST00000541910.1_Missense_Mutation_p.D69Y|REEP1_ENST00000538924.1_Missense_Mutation_p.R154I	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	147					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCCGCAGTCTCTCCGATAA	0.667													False	0	True	2:86459903	0	A	86459903	C	A	86459903	3	1	88	1	0	0	0	0	1	0	0	0	13283	913	32	3	234	3	REEP1	2	86459903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88178	86459903	156739470	2516	10228											
KDM3A	55818	broad.mit.edu	37	chr2	86716673	86716673	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaccatccaagatggagattCtgacgaactcacaataaagc	8	10	2	3	rs149432098		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86716673C>A	ENST00000409556.1	+	24	3829	c.3464C>A	c.(3463-3465)tCt>tAt	p.S1155Y	KDM3A_ENST00000312912.5_Missense_Mutation_p.S1155Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.S1155Y|KDM3A_ENST00000542128.1_Missense_Mutation_p.S1103Y			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1155	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GATGGAGATTCTGACGAACTC	0.438													False	0	False	2:86716673	0	A	86716673	C	A	86716673	3	1	88	1	0	0	0	0	1	0	0	0	8176	913	32	3	3550	3	KDM3A	2	86716673	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	256770	86716673	156482700	2517	10229											
RNF103	7844	broad.mit.edu	37	chr2	86831267	86831267	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccttcctttcacatgggCtggtctgacaatatttattg	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86831267C>A	ENST00000237455.4	-	4	2725	c.1757G>T	c.(1756-1758)aGc>aTc	p.S586I	CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	586					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TTCACATGGGCTGGTCTGACA	0.423													False	0	True	2:86831267	0	A	86831267	C	A	86831267	3	1	88	1	0	0	0	0	1	0	0	0	13502	797	28	3	304	3	RNF103	2	86831267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114594	86831267	156368106	2518	10230											
RNF103	7844	broad.mit.edu	37	chr2	86831816	86831816	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtctgcccttacccatgaaGccagtgtggttgtattggaa	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86831816G>T	ENST00000237455.4	-	4	2176	c.1208C>A	c.(1207-1209)gCt>gAt	p.A403D	CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|RNF103_ENST00000477307.1_5'UTR	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	403					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TACCCATGAAGCCAGTGTGGT	0.398													False	0	False	2:86831816	0	T	86831816	G	T	86831816	3	4	88	1	0	0	0	0	1	0	0	0	13502	971	34	3	853	3	RNF103	2	86831816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	549	86831816	156367557	2519	10231											
RMND5A	64795	broad.mit.edu	37	chr2	87000470	87000470	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgttttcttctttgtctttaGattaaaatgtccctactgtc	5	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:87000470G>A	ENST00000283632.4	+	9	1607		c.e9-1		RMND5A_ENST00000472843.1_Splice_Site	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)											kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TTTGTCTTTAGATTAAAATGT	0.328													False	0	False	2:87000470	0	A	87000470	G	A	87000470	5	1	88	1	0	0	0	0	0	0	1	0	13476	956	33	2	1146	2	RMND5A	2	87000470	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168654	87000470	156198903	2520	10232											
KRCC1	51315	broad.mit.edu	37	chr2	88328012	88328012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttggctctaagcctctgGctttctgtactttaatataa	6	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88328012G>A	ENST00000347055.3	-	4	464	c.71C>T	c.(70-72)gCc>gTc	p.A24V		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	24										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TAAGCCTCTGGCTTTCTGTAC	0.378													False	0	False	2:88328012	0	A	88328012	G	A	88328012	3	1	88	1	0	0	0	0	1	0	0	0	8491	1203	42	2	712	2	KRCC1	2	88328012	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1327542	88328012	154871361	2521	10233											
KRCC1	51315	broad.mit.edu	37	chr2	88328060	88328060	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcatcttgaaaagagtcaTatgtcttctttgaatgcttc	7	7	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88328060T>C	ENST00000347055.3	-	4	416	c.23A>G	c.(22-24)tAt>tGt	p.Y8C		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	8										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						AAAAGAGTCATATGTCTTCTT	0.363													False	0	False	2:88328060	0	C	88328060	T	C	88328060	3	2	88	1	0	0	0	0	1	0	0	0	8491	1406	49	4	760	4	KRCC1	2	88328060	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48	88328060	154871313	2522	10234											
SMYD1	150572	broad.mit.edu	37	chr2	88383924	88383924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgcccattactgcgaccGcacctgccagaaggatgctt	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88383924G>A	ENST00000419482.2	+	2	312	c.227G>A	c.(226-228)cGc>cAc	p.R76H	SMYD1_ENST00000438570.1_Missense_Mutation_p.R76H|SMYD1_ENST00000444564.2_Missense_Mutation_p.R76H|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TACTGCGACCGCACCTGCCAG	0.522													False	0	False	2:88383924	0	A	88383924	G	A	88383924	3	1	88	1	0	0	0	0	1	0	0	0	14901	1087	38	1	233	1	SMYD1	2	88383924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55864	88383924	154815449	2523	10235											
SMYD1	150572	broad.mit.edu	37	chr2	88387540	88387540	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacattcttgcagtactgGccgccgcagagccagcagtt	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88387540G>A	ENST00000419482.2	+	3	559	c.474G>A	c.(472-474)tgG>tgA	p.W158*	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Nonsense_Mutation_p.W158*|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	158	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGCAGTACTGGCCGCCGCAGA	0.607													False	0	False	2:88387540	0	A	88387540	G	A	88387540	4	1	88	1	0	0	0	0	0	1	0	0	14901	1212	42	2	484	2	SMYD1	2	88387540	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3616	88387540	154811833	2524	10236											
SMYD1	150572	broad.mit.edu	37	chr2	88405903	88405903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgtttgctgacaccaaCatctacatgctgcggatgct	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88405903C>T	ENST00000419482.2	+	8	1126	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.N334N	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CTGACACCAACATCTACATGC	0.552													False	0	False	2:88405903	0	T	88405903	C	T	88405903	2	4	88	1	0	0	0	0	0	0	0	1	14901	477	17	2		2	SMYD1	2	88405903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18363	88405903	154793470	2525	10237											
THNSL2	55258	broad.mit.edu	37	chr2	88474333	88474333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggagaagagggagaaGcacgtcactgtggttgtagg	16	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88474333G>A	ENST00000324166.5	+	2	2090	c.399G>A	c.(397-399)aaG>aaA	p.K133K	THNSL2_ENST00000402102.1_Silent_p.K133K|THNSL2_ENST00000343544.4_Silent_p.K133K|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000449349.1_Silent_p.K101K|THNSL2_ENST00000377254.3_Silent_p.K133K|THNSL2_ENST00000358591.2_Silent_p.K133K	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	133					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGAGGGAGAAGCACGTCACTG	0.512													False	0	False	2:88474333	0	A	88474333	G	A	88474333	2	1	88	1	0	0	0	0	0	0	0	1	15945	962	34	2		2	THNSL2	2	88474333	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68430	88474333	154725040	2526	10238											
THNSL2	55258	broad.mit.edu	37	chr2	88482594	88482594	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggaactgcacagcaaggTcagtcactacccacacacca	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88482594T>G	ENST00000324166.5	+	6	2768		c.e6+2		THNSL2_ENST00000402102.1_Splice_Site|THNSL2_ENST00000343544.4_Splice_Site|THNSL2_ENST00000496844.1_Splice_Site|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000377254.3_Splice_Site|THNSL2_ENST00000358591.2_Splice_Site	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)						threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CACAGCAAGGTCAGTCACTAC	0.527													False	0	True	2:88482594	0	G	88482594	T	G	88482594	5	3	88	1	0	0	0	0	0	0	1	0	15945	1681	58	4	1101	4	THNSL2	2	88482594	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8261	88482594	154716779	2527	10239											
THNSL2	55258	broad.mit.edu	37	chr2	88485522	88485522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggagatcgtagccctggaGcacaaggagacacgctgcac	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88485522G>A	ENST00000324166.5	+	8	3026	c.1335G>A	c.(1333-1335)gaG>gaA	p.E445E	THNSL2_ENST00000343544.4_3'UTR|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000449349.1_3'UTR|THNSL2_ENST00000377254.3_3'UTR|THNSL2_ENST00000358591.2_Silent_p.E445E	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	445					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TAGCCCTGGAGCACAAGGAGA	0.632													False	0	False	2:88485522	0	A	88485522	G	A	88485522	2	1	88	1	0	0	0	0	0	0	0	1	15945	962	34	2		2	THNSL2	2	88485522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2928	88485522	154713851	2528	10240											
EIF2AK3	9451	broad.mit.edu	37	chr2	88857381	88857381	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtccaagtcctcaaatacaGcattttcaatgatgtttata	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88857381G>T	ENST00000303236.3	-	17	3525	c.3224C>A	c.(3223-3225)gCt>gAt	p.A1075D	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A924D	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1075	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CTCAAATACAGCATTTTCAAT	0.413													False	0	False	2:88857381	0	T	88857381	G	T	88857381	3	4	88	1	0	0	0	0	1	0	0	0	5028	971	34	3	130	3	EIF2AK3	2	88857381	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	371859	88857381	154341992	2529	10241											
EIF2AK3	9451	broad.mit.edu	37	chr2	88874373	88874373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacacctttggtgaactgggCtggagtttttctgtggtgtt	13	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88874373C>A	ENST00000303236.3	-	13	2929	c.2628G>T	c.(2626-2628)caG>caT	p.Q876H	EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.Q725H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	876	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GTGAACTGGGCTGGAGTTTTT	0.408													False	0	True	2:88874373	0	A	88874373	C	A	88874373	3	1	88	1	0	0	0	0	1	0	0	0	5028	796	28	3	742	3	EIF2AK3	2	88874373	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16992	88874373	154325000	2530	10242											
EIF2AK3	9451	broad.mit.edu	37	chr2	88874864	88874864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttctttgtggtgaaggagCtatgatttcaatatgttctt	10	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88874864C>A	ENST00000303236.3	-	13	2438	c.2137G>T	c.(2137-2139)Gct>Tct	p.A713S	EIF2AK3_ENST00000470706.1_Intron|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A562S	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	713	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GGTGAAGGAGCTATGATTTCA	0.448													False	0	False	2:88874864	0	A	88874864	C	A	88874864	3	1	88	1	0	0	0	0	1	0	0	0	5028	797	28	3	1233	3	EIF2AK3	2	88874864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	491	88874864	154324509	2531	10243											
EIF2AK3	9451	broad.mit.edu	37	chr2	88890358	88890358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtactcccattccagatgtCctcccttcttactgaatgcc	6	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88890358C>T	ENST00000303236.3	-	5	1281	c.980G>A	c.(979-981)gGa>gAa	p.G327E	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.G176E	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	327					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TTCCAGATGTCCTCCCTTCTT	0.433													False	0	False	2:88890358	0	T	88890358	C	T	88890358	3	4	88	1	0	0	0	0	1	0	0	0	5028	855	30	2	2422	2	EIF2AK3	2	88890358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15494	88890358	154309015	2532	10244											
TEKT4	150483	broad.mit.edu	37	chr2	95537600	95537600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactccacgcgcacagtgggCgagcgactgcaggacacgca	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95537600C>T	ENST00000295201.4	+	1	413	c.276C>T	c.(274-276)ggC>ggT	p.G92G	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.G92G	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	92					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCACAGTGGGCGAGCGACTGC	0.687													False	0	True	2:95537600	0	T	95537600	C	T	95537600	2	4	88	1	0	0	0	0	0	0	0	1	15837	755	27	1		1	TEKT4	2	95537600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6647242	95537600	147661773	2533	10245											
TEKT4	150483	broad.mit.edu	37	chr2	95537712	95537712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaacggctggagcgcgccCtggacgccacagaggtgccc	15	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95537712C>A	ENST00000295201.4	+	1	525	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.L130M	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	130					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGAGCGCGCCCTGGACGCCAC	0.657													False	0	True	2:95537712	0	A	95537712	C	A	95537712	3	1	88	1	0	0	0	0	1	0	0	0	15837	680	24	3	390	3	TEKT4	2	95537712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	95537712	147661661	2534	10246											
MAL	4118	broad.mit.edu	37	chr2	95715347	95715347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcagcctaccactgcaccGctgccctcttttacctcagc	6	19	2	0	rs11553832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95715347G>A	ENST00000309988.4	+	3	392	c.283G>A	c.(283-285)Gct>Act	p.A95T	MAL_ENST00000354078.3_Missense_Mutation_p.A39T|MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	95	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CCACTGCACCGCTGCCCTCTT	0.622													False	0	False	2:95715347	0	A	95715347	G	A	95715347	3	1	88	1	0	0	0	0	1	0	0	0	9266	1087	38	1	293	1	MAL	2	95715347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177635	95715347	147484026	2535	10247											
ZNF514	84874	broad.mit.edu	37	chr2	95818951	95818951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgagcagggttcagctgCccccactcccactggctgaa	10	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95818951C>T	ENST00000295208.2	-	3	510	c.48G>A	c.(46-48)ggG>ggA	p.G16G	ZNF514_ENST00000411425.1_Silent_p.G16G	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						GGTTCAGCTGCCCCCACTCCC	0.517													False	0	True	2:95818951	0	T	95818951	C	T	95818951	2	4	88	1	0	0	0	0	0	0	0	1	18042	726	26	2		2	ZNF514	2	95818951	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103604	95818951	147380422	2536	10248											
ZNF2	7549	broad.mit.edu	37	chr2	95847399	95847399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgttcatcccttactcgaCaccagagaattcacactgga	6	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95847399C>T	ENST00000398107.2	+	4	1222	c.700C>T	c.(700-702)Cac>Tac	p.H234Y	ZNF2_ENST00000425369.1_Missense_Mutation_p.H196Y|ZNF2_ENST00000340539.5_Missense_Mutation_p.H276Y|ZNF2_ENST00000295210.6_Missense_Mutation_p.H238Y|ZNF2_ENST00000453539.2_Missense_Mutation_p.H289Y	NM_001017396.1	NP_001017396	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CCTTACTCGACACCAGAGAAT	0.453													False	0	False	2:95847399	0	T	95847399	C	T	95847399	3	4	88	1	0	0	0	0	1	0	0	0	17843	478	17	2	840	2	ZNF2	2	95847399	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28448	95847399	147351974	2537	10249											
PROM2	150696	broad.mit.edu	37	chr2	95941711	95941711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgggctacgtggtatgcGctgtgatcgcgggcctctac	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95941711G>A	ENST00000317620.9	+	3	461	c.328G>A	c.(328-330)Gct>Act	p.A110T	PROM2_ENST00000403131.2_Missense_Mutation_p.A110T|PROM2_ENST00000317668.4_Missense_Mutation_p.A110T|PROM2_ENST00000463580.1_Intron|PROM2_ENST00000542147.1_Missense_Mutation_p.A110T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	110						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CGTGGTATGCGCTGTGATCGC	0.687													False	0	False	2:95941711	0	A	95941711	G	A	95941711	3	1	88	1	0	0	0	0	1	0	0	0	12632	1087	38	1	338	1	PROM2	2	95941711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94312	95941711	147257662	2538	10250											
PROM2	150696	broad.mit.edu	37	chr2	95945719	95945719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacccagaagccaagggCgaggctggagcccgcttcct	13	15	0	1	rs140258551	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95945719C>T	ENST00000317620.9	+	11	1534	c.1401C>T	c.(1399-1401)ggC>ggT	p.G467G	PROM2_ENST00000403131.2_Silent_p.G467G|PROM2_ENST00000317668.4_Silent_p.G467G|PROM2_ENST00000542147.1_Silent_p.G467G	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	467						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.G467G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGCCAAGGGCGAGGCTGGAG	0.627													False	0	True	2:95945719	0	T	95945719	C	T	95945719	2	4	88	1	0	0	0	0	0	0	0	1	12632	755	27	1		1	PROM2	2	95945719	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4008	95945719	147253654	2539	10251											
PROM2	150696	broad.mit.edu	37	chr2	95952933	95952933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctacctgaaaggagagctgcCtgcctgggcagccaggatcc	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95952933C>A	ENST00000317620.9	+	19	2280	c.2147C>A	c.(2146-2148)cCt>cAt	p.P716H	PROM2_ENST00000403131.2_Missense_Mutation_p.P716H|PROM2_ENST00000317668.4_Missense_Mutation_p.P716H|PROM2_ENST00000542147.1_Missense_Mutation_p.P667H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	716						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGAGAGCTGCCTGCCTGGGCA	0.597													False	0	True	2:95952933	0	A	95952933	C	A	95952933	3	1	88	1	0	0	0	0	1	0	0	0	12632	681	24	3	2221	3	PROM2	2	95952933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7214	95952933	147246440	2540	10252											
KCNIP3	30818	broad.mit.edu	37	chr2	96012774	96012774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcccggcttgccatgggcAtccagggcatggagctgtgc	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96012774A>G	ENST00000468529.1	+	1	299	c.7A>G	c.(7-9)Atc>Gtc	p.I3V	KCNIP3_ENST00000295225.5_Intron|KCNIP3_ENST00000360990.3_Intron|KCNIP3_ENST00000377181.2_Intron	NM_001034914.1	NP_001030086.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	0					apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TGCCATGGGCATCCAGGGCAT	0.711													False	0	False	2:96012774	0	G	96012774	A	G	96012774	3	3	88	1	0	0	0	0	1	0	0	0	8091	217	8	4	198	4	KCNIP3	2	96012774	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	59841	96012774	147186599	2541	10253											
KCNIP3	30818	broad.mit.edu	37	chr2	96040138	96040138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagttcaccaagaaggaGctgcagtctctctacagggg	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96040138G>A	ENST00000295225.5	+	3	411	c.276G>A	c.(274-276)gaG>gaA	p.E92E	KCNIP3_ENST00000360990.3_Silent_p.E92E|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000468529.1_Silent_p.E66E	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	92	EF-hand 1; degenerate.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CCAAGAAGGAGCTGCAGTCTC	0.602													False	0	False	2:96040138	0	A	96040138	G	A	96040138	2	1	88	1	0	0	0	0	0	0	0	1	8091	962	34	2		2	KCNIP3	2	96040138	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27364	96040138	147159235	2542	10254											
GPAT2	150763	broad.mit.edu	37	chr2	96688928	96688928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagcgggctgagcaggCggcagaggaaaagaaagaaa	17	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96688928C>T	ENST00000434632.1	-	20	2534	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	GPAT2_ENST00000359548.4_Missense_Mutation_p.R692H|GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000453542.1_Missense_Mutation_p.R621H			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	692					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCTGAGCAGGCGGCAGAGGAA	0.652													False	0	False	2:96688928	0	T	96688928	C	T	96688928	3	4	88	1	0	0	0	0	1	0	0	0	6635	768	27	1	328	1	GPAT2	2	96688928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	648790	96688928	146510445	2543	10255											
GPAT2	150763	broad.mit.edu	37	chr2	96688941	96688941	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcaggcggcagaggaaaaGaaagaaatctgggcagtgtg	17	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96688941G>A	ENST00000434632.1	-	20	2521	c.2062C>T	c.(2062-2064)Ctt>Ttt	p.L688F	GPAT2_ENST00000359548.4_Missense_Mutation_p.L688F|GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000453542.1_Missense_Mutation_p.L617F			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	688					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CAGAGGAAAAGAAAGAAATCT	0.662													False	0	True	2:96688941	0	A	96688941	G	A	96688941	3	1	88	1	0	0	0	0	1	0	0	0	6635	942	33	2	341	2	GPAT2	2	96688941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	96688941	146510432	2544	10256											
GPAT2	150763	broad.mit.edu	37	chr2	96691710	96691710	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgatgggctgcagtagctgCtccagggtctgtctgccgcc	14	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96691710C>A	ENST00000434632.1	-	13	1665	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	GPAT2_ENST00000359548.4_Missense_Mutation_p.E402D|GPAT2_ENST00000377137.3_Missense_Mutation_p.E402D|GPAT2_ENST00000453542.1_Missense_Mutation_p.E331D			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	402					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCAGTAGCTGCTCCAGGGTCT	0.617													False	0	False	2:96691710	0	A	96691710	C	A	96691710	3	1	88	1	0	0	0	0	1	0	0	0	6635	796	28	3	1225	3	GPAT2	2	96691710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2769	96691710	146507663	2545	10257											
ADRA2B	151	broad.mit.edu	37	chr2	96781645	96781645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacacctcgcaccacgtgcGccggaagtaccagtagccca	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781645G>A	ENST00000409345.3	-	1	339	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	82					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CACCACGTGCGCCGGAAGTAC	0.657													False	0	False	2:96781645	0	A	96781645	G	A	96781645	3	1	88	1	0	0	0	0	1	0	0	0	338	1087	38	1	1103	1	ADRA2B	2	96781645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89935	96781645	146417728	2546	10258											
ADRA2B	151	broad.mit.edu	37	chr2	96781656	96781656	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacgtgcgccggaagtacCagtagcccagcagctcgttg	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781656C>T	ENST00000409345.3	-	1	328	c.233G>A	c.(232-234)tGg>tAg	p.W78*		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	78					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CCGGAAGTACCAGTAGCCCAG	0.652													False	0	False	2:96781656	0	T	96781656	C	T	96781656	4	4	88	1	0	0	0	0	0	1	0	0	338	595	21	2	1114	2	ADRA2B	2	96781656	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11	96781656	146417717	2547	10259											
ADRA2B	151	broad.mit.edu	37	chr2	96781849	96781849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatggccgccgctatggCcgctgtggcctgcacggagt	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781849C>T	ENST00000409345.3	-	1	135	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	14					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GCCGCTATGGCCGCTGTGGCC	0.672													False	0	False	2:96781849	0	T	96781849	C	T	96781849	3	4	88	1	0	0	0	0	1	0	0	0	338	739	26	2	1307	2	ADRA2B	2	96781849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193	96781849	146417524	2548	10260											
CIAO1	9391	broad.mit.edu	37	chr2	96932184	96932184	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgcggggaccctgctggcCtcgtgcggcggcgaccggag	18	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96932184C>A	ENST00000488633.1	+	1	315	c.96C>A	c.(94-96)gcC>gcA	p.A32A	CIAO1_ENST00000469320.1_3'UTR	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	32					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						CCCTGCTGGCCTCGTGCGGCG	0.721													False	0	False	2:96932184	0	A	96932184	C	A	96932184	2	1	88	1	0	0	0	0	0	0	0	1	3441	668	24	3		3	CIAO1	2	96932184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150335	96932184	146267189	2549	10261											
SNRNP200	23020	broad.mit.edu	37	chr2	96944327	96944327	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagtaggcggcgatcatgcCtaggttcagaggcgccacgt	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96944327C>A	ENST00000323853.5	-	38	5523	c.5446G>T	c.(5446-5448)Ggc>Tgc	p.G1816C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1816	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCGATCATGCCTAGGTTCAGA	0.582													False	0	False	2:96944327	0	A	96944327	C	A	96944327	3	1	88	1	0	0	0	0	1	0	0	0	14932	681	24	3	996	3	SNRNP200	2	96944327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12143	96944327	146255046	2550	10262											
SNRNP200	23020	broad.mit.edu	37	chr2	96953626	96953626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgtcgatcatcttgcagaGgttcagggtcttgtctgtaa	11	7	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96953626G>T	ENST00000323853.5	-	25	3417	c.3340C>A	c.(3340-3342)Ctc>Atc	p.L1114I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1114	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ATCTTGCAGAGGTTCAGGGTC	0.537													False	0	False	2:96953626	0	T	96953626	G	T	96953626	3	4	88	1	0	0	0	0	1	0	0	0	14932	1000	35	3	3154	3	SNRNP200	2	96953626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9299	96953626	146245747	2551	10263											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96992435	96992435	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggcagtgatgtatgtTgttcaccaccctctgatggt	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96992435T>C	ENST00000361124.4	+	1	501	c.90T>C	c.(88-90)gtT>gtC	p.V30V	ITPRIPL1_ENST00000542887.1_Silent_p.V14V|ITPRIPL1_ENST00000536814.1_Silent_p.V14V|ITPRIPL1_ENST00000439118.2_Silent_p.V22V	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	22						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGATGTATGTTGTTCACCACC	0.532													False	0	True	2:96992435	0	C	96992435	T	C	96992435	2	2	88	1	0	0	0	0	0	0	0	1	7974	1799	63	4		4	ITPRIPL1	2	96992435	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38809	96992435	146206938	2552	10264											
NCAPH	23397	broad.mit.edu	37	chr2	97007618	97007618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcacctcgcttattggcCtccccctccagcaggtgagg	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97007618C>T	ENST00000455200.1	+	2	520	c.225C>T	c.(223-225)gcC>gcT	p.A75A	NCAPH_ENST00000240423.4_Silent_p.A86A|NCAPH_ENST00000427946.1_Intron			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	86					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GCTTATTGGCCTCCCCCTCCA	0.572													False	0	False	2:97007618	0	T	97007618	C	T	97007618	2	4	88	1	0	0	0	0	0	0	0	1	10277	668	24	2		2	NCAPH	2	97007618	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15183	97007618	146191755	2553	10265											
NCAPH	23397	broad.mit.edu	37	chr2	97009891	97009891	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaggctgtaaagccaaAgaagaagcacttacacagaa	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97009891A>C	ENST00000455200.1	+	6	906	c.611A>C	c.(610-612)aAg>aCg	p.K204T	NCAPH_ENST00000240423.4_Missense_Mutation_p.K215T|NCAPH_ENST00000427946.1_Missense_Mutation_p.K79T			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	215					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GTAAAGCCAAAGAAGAAGCAC	0.438													False	0	True	2:97009891	0	C	97009891	A	C	97009891	3	2	88	1	0	0	0	0	1	0	0	0	10277	72	3	4	666	4	NCAPH	2	97009891	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2273	97009891	146189482	2554	10266											
NCAPH	23397	broad.mit.edu	37	chr2	97026333	97026333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaattaataggctgctaCtattctgaccaagtccactt	5	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97026333C>T	ENST00000455200.1	+	12	1734	c.1439C>T	c.(1438-1440)aCt>aTt	p.T480I	NCAPH_ENST00000240423.4_Missense_Mutation_p.T491I|NCAPH_ENST00000427946.1_Missense_Mutation_p.T355I			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	491					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TAGGCTGCTACTATTCTGACC	0.403													False	0	False	2:97026333	0	T	97026333	C	T	97026333	3	4	88	1	0	0	0	0	1	0	0	0	10277	565	20	2	1518	2	NCAPH	2	97026333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16442	97026333	146173040	2555	10267											
CNNM4	26504	broad.mit.edu	37	chr2	97427765	97427765	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaccgggagaagctgatggaGatgttgaaggtgacggagcc	17	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427765G>T	ENST00000377075.2	+	1	1127	c.1029G>T	c.(1027-1029)gaG>gaT	p.E343D		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	343	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AGCTGATGGAGATGTTGAAGG	0.498													False	0	False	2:97427765	0	T	97427765	G	T	97427765	3	4	88	1	0	0	0	0	1	0	0	0	3638	933	33	3	1031	3	CNNM4	2	97427765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	401432	97427765	145771608	2556	10268											
CNNM4	26504	broad.mit.edu	37	chr2	97427930	97427930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacttcaacaccatgtcGgagataatggaaagcggcta	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427930G>A	ENST00000377075.2	+	1	1292	c.1194G>A	c.(1192-1194)tcG>tcA	p.S398S		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	398	CBS 1.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		p.S398S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ACACCATGTCGGAGATAATGG	0.502													False	0	False	2:97427930	0	A	97427930	G	A	97427930	2	1	88	1	0	0	0	0	0	0	0	1	3638	1103	39	1		1	CNNM4	2	97427930	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165	97427930	145771443	2557	10269											
CNNM4	26504	broad.mit.edu	37	chr2	97427977	97427977	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcccggtgttcgaagacgAgcagtccaatattgtagata	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427977A>C	ENST00000377075.2	+	1	1339	c.1241A>C	c.(1240-1242)gAg>gCg	p.E414A		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	414	CBS 1.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TTCGAAGACGAGCAGTCCAAT	0.507													False	0	False	2:97427977	0	C	97427977	A	C	97427977	3	2	88	1	0	0	0	0	1	0	0	0	3638	304	11	4	1243	4	CNNM4	2	97427977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47	97427977	145771396	2558	10270											
CNNM3	26505	broad.mit.edu	37	chr2	97493533	97493533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctgttgaagcatcccAgtgtcaaccaggaagtgagg	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97493533A>G	ENST00000305510.3	+	4	1613	c.1585A>G	c.(1585-1587)Agt>Ggt	p.S529G	CNNM3_ENST00000377060.3_Missense_Mutation_p.S481G|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	529					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GAAGCATCCCAGTGTCAACCA	0.552													False	0	True	2:97493533	0	G	97493533	A	G	97493533	3	3	88	1	0	0	0	0	1	0	0	0	3637	188	7	4	1599	4	CNNM3	2	97493533	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65556	97493533	145705840	2559	10271											
ANKRD23	200539	broad.mit.edu	37	chr2	97506535	97506535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctaccttgtcatgggCattggggtcccctccgtctg	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97506535C>T	ENST00000318357.4	-	4	456	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	ANKRD23_ENST00000418232.1_Missense_Mutation_p.A139T|ANKRD23_ENST00000476975.1_Intron|ANKRD23_ENST00000331001.2_Intron	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	139						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TTGTCATGGGCATTGGGGTCC	0.597													False	0	True	2:97506535	0	T	97506535	C	T	97506535	3	4	88	1	0	0	0	0	1	0	0	0	652	710	25	2	526	2	ANKRD23	2	97506535	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13002	97506535	145692838	2560	10272											
SEMA4C	54910	broad.mit.edu	37	chr2	97527040	97527040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcacaaccagggcctggaGccgggcatcgtagaggaagg	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97527040G>T	ENST00000305476.5	-	15	1957	c.1825C>A	c.(1825-1827)Ctc>Atc	p.L609I		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	609	Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGGGCCTGGAGCCGGGCATCG	0.692													False	0	False	2:97527040	0	T	97527040	G	T	97527040	3	4	88	1	0	0	0	0	1	0	0	0	14114	971	34	3	680	3	SEMA4C	2	97527040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20505	97527040	145672333	2561	10273											
SEMA4C	54910	broad.mit.edu	37	chr2	97529765	97529765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttcacgagcagggggcGgctccaccgaggccccacct	12	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97529765G>A	ENST00000305476.5	-	11	1360	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	410	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	p.R410C(1)		NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCAGGGGGCGGCTCCACCGA	0.617													False	0	False	2:97529765	0	A	97529765	G	A	97529765	3	1	88	1	0	0	0	0	1	0	0	0	14114	1116	39	1	1293	1	SEMA4C	2	97529765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2725	97529765	145669608	2562	10274											
ZAP70	7535	broad.mit.edu	37	chr2	98340826	98340826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccggccgtcgggcctcgaGccgcagccgggggtcttcga	16	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98340826G>A	ENST00000264972.5	+	3	542	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	109	Interdomain A.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CGGGCCTCGAGCCGCAGCCGG	0.711													False	0	False	2:98340826	0	A	98340826	G	A	98340826	2	1	88	1	0	0	0	0	0	0	0	1	17598	962	34	2		2	ZAP70	2	98340826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	811061	98340826	144858547	2563	10275											
ZAP70	7535	broad.mit.edu	37	chr2	98340886	98340886	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgcgtgactacgtgcgccaGacgtggaagctggaggtgag	18	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98340886G>T	ENST00000264972.5	+	3	602	c.387G>T	c.(385-387)caG>caT	p.Q129H		NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	129	Interdomain A.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACGTGCGCCAGACGTGGAAGC	0.701													False	0	False	2:98340886	0	T	98340886	G	T	98340886	3	4	88	1	0	0	0	0	1	0	0	0	17598	933	33	3	389	3	ZAP70	2	98340886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	98340886	144858487	2564	10276											
ZAP70	7535	broad.mit.edu	37	chr2	98350016	98350016	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcctttagcctcagagaCgaatcgacaccctcaactca	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98350016C>T	ENST00000264972.5	+	8	1062	c.847C>T	c.(847-849)Cga>Tga	p.R283*	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Nonsense_Mutation_p.R157*	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	283	Interdomain B.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCCTCAGAGACGAATCGACAC	0.612													False	0	False	2:98350016	0	T	98350016	C	T	98350016	4	4	88	1	0	0	0	0	0	1	0	0	17598	528	19	1	869	1	ZAP70	2	98350016	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9130	98350016	144849357	2565	10277											
ZAP70	7535	broad.mit.edu	37	chr2	98351789	98351789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagagatgatgcgcgagGcgcagatcatgcaccagctg	15	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98351789G>A	ENST00000264972.5	+	10	1374	c.1159G>A	c.(1159-1161)Gcg>Acg	p.A387T	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.A80T|ZAP70_ENST00000442208.1_Missense_Mutation_p.A261T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	387	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GATGCGCGAGGCGCAGATCAT	0.652													False	0	False	2:98351789	0	A	98351789	G	A	98351789	3	1	88	1	0	0	0	0	1	0	0	0	17598	1203	42	2	1189	2	ZAP70	2	98351789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1773	98351789	144847584	2566	10278											
ZAP70	7535	broad.mit.edu	37	chr2	98354262	98354262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctcaagtggtacgcacccGaatgcatcaacttccgcaag	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98354262G>A	ENST00000264972.5	+	12	1740	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.E202K|ZAP70_ENST00000442208.1_Missense_Mutation_p.E383K	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	509	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GTACGCACCCGAATGCATCAA	0.637													False	0	True	2:98354262	0	A	98354262	G	A	98354262	3	1	88	1	0	0	0	0	1	0	0	0	17598	1059	37	1	1563	1	ZAP70	2	98354262	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2473	98354262	144845111	2567	10279											
TMEM131	23505	broad.mit.edu	37	chr2	98373767	98373767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagtggtgaagggaaggGcgctgctaaggttgctggac	19	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98373767G>A	ENST00000186436.5	-	41	5675	c.5447C>T	c.(5446-5448)gCc>gTc	p.A1816V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1816						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAAGGGAAGGGCGCTGCTAAG	0.592													False	0	True	2:98373767	0	A	98373767	G	A	98373767	3	1	88	1	0	0	0	0	1	0	0	0	16126	1203	42	2	208	2	TMEM131	2	98373767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19505	98373767	144825606	2568	10280											
TMEM131	23505	broad.mit.edu	37	chr2	98373796	98373796	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggttgctggaccaaatggaGctgctgaatggagtggtgga	17	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98373796G>T	ENST00000186436.5	-	41	5646	c.5418C>A	c.(5416-5418)agC>agA	p.S1806R		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1806	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACCAAATGGAGCTGCTGAATG	0.602													False	0	False	2:98373796	0	T	98373796	G	T	98373796	3	4	88	1	0	0	0	0	1	0	0	0	16126	962	34	3	237	3	TMEM131	2	98373796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	98373796	144825577	2569	10281											
TMEM131	23505	broad.mit.edu	37	chr2	98422056	98422056	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcttccttattgccccgTaatcgtttatagtaaaatcg	6	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98422056T>C	ENST00000186436.5	-	20	2394	c.2166A>G	c.(2164-2166)ttA>ttG	p.L722L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	722						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TATTGCCCCGTAATCGTTTAT	0.323													False	0	False	2:98422056	0	C	98422056	T	C	98422056	2	2	88	1	0	0	0	0	0	0	0	1	16126	1635	57	4		4	TMEM131	2	98422056	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48260	98422056	144777317	2570	10282											
TMEM131	23505	broad.mit.edu	37	chr2	98429173	98429173	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcactcagtactccaaaatCtatgaaacgttcctctattt	4	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98429173C>T	ENST00000186436.5	-	16	1885	c.1657G>A	c.(1657-1659)Gat>Aat	p.D553N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	553						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACTCCAAAATCTATGAAACGT	0.299													False	0	False	2:98429173	0	T	98429173	C	T	98429173	3	4	88	1	0	0	0	0	1	0	0	0	16126	913	32	2	4098	2	TMEM131	2	98429173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7117	98429173	144770200	2571	10283											
TMEM131	23505	broad.mit.edu	37	chr2	98430750	98430750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacatcgtgaatgaggatcGcaaaactgaaagtgttagta	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98430750G>A	ENST00000186436.5	-	14	1622	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	465						integral to membrane		p.A352V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AATGAGGATCGCAAAACTGAA	0.408													False	0	False	2:98430750	0	A	98430750	G	A	98430750	3	1	88	1	0	0	0	0	1	0	0	0	16126	1087	38	1	4369	1	TMEM131	2	98430750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1577	98430750	144768623	2572	10284											
VWA3B	200403	broad.mit.edu	37	chr2	98709695	98709695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaactgcatgggcttaagaGcaacaaattgaccttgaaac	8	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98709695G>A	ENST00000477737.1	+	2	344	c.140G>A	c.(139-141)aGc>aAc	p.S47N	VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Missense_Mutation_p.S47N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	47										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGGCTTAAGAGCAACAAATTG	0.448													False	0	False	2:98709695	0	A	98709695	G	A	98709695	3	1	88	1	0	0	0	0	1	0	0	0	17325	971	34	2	142	2	VWA3B	2	98709695	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278945	98709695	144489678	2573	10285											
VWA3B	200403	broad.mit.edu	37	chr2	98750321	98750321	+	Nonsense_Mutation	SNP	G	G	T													ccgagagaacagagtgtgtaGaatttcctgcattctccaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98750321G>T	ENST00000477737.1	+	7	1111	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	VWA3B_ENST00000451075.2_Nonsense_Mutation_p.E153*|VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E303*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	303										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGAGTGTGTAGAATTTCCTGC	0.458													False	0	False	2:98750321	0	T	98750321	G	T	98750321	4	4	88	1	0	0	0	0	0	1	0	0	17325	943	33	3	929	3	VWA3B	2	98750321	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40626	98750321	144449052	2574	10286	154	2									
VWA3B	200403	broad.mit.edu	37	chr2	98750327	98750327	+	Missense_Mutation	SNP	C	C	A													gaacagagtgtgtagaatttCctgcattctccacaaaggat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98750327C>A	ENST00000477737.1	+	7	1117	c.913C>A	c.(913-915)Cct>Act	p.P305T	VWA3B_ENST00000451075.2_Missense_Mutation_p.P155T|VWA3B_ENST00000435344.1_Missense_Mutation_p.P305T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	305								p.P305S(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTAGAATTTCCTGCATTCTC	0.458													False	0	True	2:98750327	0	A	98750327	C	A	98750327	3	1	88	1	0	0	0	0	1	0	0	0	17325	855	30	3	935	3	VWA3B	2	98750327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	98750327	144449046	2575	10287	154	2									
VWA3B	200403	broad.mit.edu	37	chr2	98846533	98846533	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatcaaaaggaaatctgttCtatgatttcaaccccagaaa	6	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98846533C>A	ENST00000477737.1	+	16	2375	c.2171C>A	c.(2170-2172)tCt>tAt	p.S724Y		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	724										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAAATCTGTTCTATGATTTCA	0.373													False	0	False	2:98846533	0	A	98846533	C	A	98846533	3	1	88	1	0	0	0	0	1	0	0	0	17325	913	32	3	2229	3	VWA3B	2	98846533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96206	98846533	144352840	2576	10288											
VWA3B	200403	broad.mit.edu	37	chr2	98853155	98853155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctccacctatgttcccGtcctggacaagcatgtcgtg	9	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98853155G>A	ENST00000477737.1	+	19	2839	c.2635G>A	c.(2635-2637)Gtc>Atc	p.V879I		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	879								p.V879F(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTATGTTCCCGTCCTGGACAA	0.478													False	0	True	2:98853155	0	A	98853155	G	A	98853155	3	1	88	1	0	0	0	0	1	0	0	0	17325	1145	40	1	2705	1	VWA3B	2	98853155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6622	98853155	144346218	2577	10289											
VWA3B	200403	broad.mit.edu	37	chr2	98928393	98928393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggaggaaaaagaggccCgccaagcagccactccagca	11	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98928393C>T	ENST00000477737.1	+	27	3837	c.3633C>T	c.(3631-3633)ccC>ccT	p.P1211P	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1211										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAAAGAGGCCCGCCAAGCAGC	0.642													False	0	True	2:98928393	0	T	98928393	C	T	98928393	2	4	88	1	0	0	0	0	0	0	0	1	17325	639	23	1		1	VWA3B	2	98928393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75238	98928393	144270980	2578	10290											
CNGA3	1261	broad.mit.edu	37	chr2	99008415	99008415	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtatgtcttggatgtgCttgtacgagctcggacaggt	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99008415C>A	ENST00000393504.1	+	7	1072	c.655C>A	c.(655-657)Ctt>Att	p.L219I	CNGA3_ENST00000409937.1_Missense_Mutation_p.L223I|CNGA3_ENST00000272602.2_Missense_Mutation_p.L219I|CNGA3_ENST00000436404.2_Missense_Mutation_p.L201I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	219					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTTGGATGTGCTTGTACGAGC	0.597													False	0	False	2:99008415	0	A	99008415	C	A	99008415	3	1	88	1	0	0	0	0	1	0	0	0	3621	797	28	3	677	3	CNGA3	2	99008415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80022	99008415	144190958	2579	10291											
CNGA3	1261	broad.mit.edu	37	chr2	99012701	99012701	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggaagtacatttacagtctCtactggtccaccttgaccct	7	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99012701C>A	ENST00000393504.1	+	8	1485	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L	CNGA3_ENST00000409937.1_Silent_p.L360L|CNGA3_ENST00000272602.2_Silent_p.L356L|CNGA3_ENST00000436404.2_Silent_p.L338L	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	356					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTTACAGTCTCTACTGGTCCA	0.512													False	0	False	2:99012701	0	A	99012701	C	A	99012701	2	1	88	1	0	0	0	0	0	0	0	1	3621	900	32	3		3	CNGA3	2	99012701	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4286	99012701	144186672	2580	10292											
CNGA3	1261	broad.mit.edu	37	chr2	99013655	99013655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgaagggtggtggggaCaagcccctggctgatgggga	20	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99013655C>T	ENST00000393504.1	+	8	2439	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	CNGA3_ENST00000409937.1_Silent_p.D678D|CNGA3_ENST00000272602.2_Silent_p.D674D|CNGA3_ENST00000436404.2_Silent_p.D656D	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	674					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTGGTGGGGACAAGCCCCTGG	0.552													False	0	False	2:99013655	0	T	99013655	C	T	99013655	2	4	88	1	0	0	0	0	0	0	0	1	3621	477	17	2		2	CNGA3	2	99013655	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	954	99013655	144185718	2581	10293											
INPP4A	3631	broad.mit.edu	37	chr2	99185040	99185040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataacctcccaaggtttggCgatacgtctttacaagaagt	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99185040C>T	ENST00000409016.4	+	23	2722	c.2325C>T	c.(2323-2325)ggC>ggT	p.G775G	INPP4A_ENST00000074304.5_Silent_p.G814G|INPP4A_ENST00000409463.1_Silent_p.G143G|INPP4A_ENST00000409851.3_Silent_p.G809G|INPP4A_ENST00000545415.1_Silent_p.G775G|INPP4A_ENST00000409540.3_Silent_p.G775G|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000523221.1_Silent_p.G814G			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CAAGGTTTGGCGATACGTCTT	0.413													False	0	False	2:99185040	0	T	99185040	C	T	99185040	2	4	88	1	0	0	0	0	0	0	0	1	7802	755	27	1		1	INPP4A	2	99185040	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171385	99185040	144014333	2582	10294											
UNC50	25972	broad.mit.edu	37	chr2	99226382	99226382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttgctgcctggcagatgCtctacctgttcacatcccca	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99226382C>T	ENST00000409975.1	+	1	1341	c.211C>T	c.(211-213)Ctc>Ttc	p.L71F	UNC50_ENST00000409347.1_Missense_Mutation_p.L71F|UNC50_ENST00000357765.2_Missense_Mutation_p.L54F			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	54					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTGGCAGATGCTCTACCTGTT	0.488													False	0	False	2:99226382	0	T	99226382	C	T	99226382	3	4	88	1	0	0	0	0	1	0	0	0	17074	797	28	2	162	2	UNC50	2	99226382	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41342	99226382	143972991	2583	10295											
UNC50	25972	broad.mit.edu	37	chr2	99226447	99226447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcgaaaacagacgaaggaCcagtgggccagagatgaccc	12	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99226447C>T	ENST00000409975.1	+	1	1406	c.276C>T	c.(274-276)gaC>gaT	p.D92D	UNC50_ENST00000409347.1_Silent_p.D92D|UNC50_ENST00000357765.2_Silent_p.D75D			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	75					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AGACGAAGGACCAGTGGGCCA	0.448													False	0	False	2:99226447	0	T	99226447	C	T	99226447	2	4	88	1	0	0	0	0	0	0	0	1	17074	506	18	2		2	UNC50	2	99226447	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65	99226447	143972926	2584	10296											
TSGA10	80705	broad.mit.edu	37	chr2	99681453	99681453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttttaatctgttaccCtctgcctcagcagtgataag	6	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99681453C>A	ENST00000393483.3	-	16	2197	c.1353G>T	c.(1351-1353)gaG>gaT	p.E451D	TSGA10_ENST00000410001.1_Missense_Mutation_p.E451D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E451D|TSGA10_ENST00000539964.1_Missense_Mutation_p.E451D|TSGA10_ENST00000478090.1_5'UTR	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	451					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATCTGTTACCCTCTGCCTCAG	0.373													False	0	True	2:99681453	0	A	99681453	C	A	99681453	3	1	88	1	0	0	0	0	1	0	0	0	16700	680	24	3	767	3	TSGA10	2	99681453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	455006	99681453	143517920	2585	10297											
TSGA10	80705	broad.mit.edu	37	chr2	99722093	99722093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggagaatagcatgtgccGttgttgatttaggactctta	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99722093G>A	ENST00000393483.3	-	8	1122	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TSGA10_ENST00000410001.1_Missense_Mutation_p.T93M|TSGA10_ENST00000355053.4_Missense_Mutation_p.T93M|TSGA10_ENST00000539964.1_Missense_Mutation_p.T93M|TSGA10_ENST00000542655.1_Missense_Mutation_p.T93M|TSGA10_ENST00000478090.1_5'UTR	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	93					spermatogenesis	cytoplasm|nuclear membrane		p.T93M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGCATGTGCCGTTGTTGATTT	0.413													False	0	False	2:99722093	0	A	99722093	G	A	99722093	3	1	88	1	0	0	0	0	1	0	0	0	16700	1145	40	1	1874	1	TSGA10	2	99722093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40640	99722093	143477280	2586	10298											
MITD1	129531	broad.mit.edu	37	chr2	99786049	99786049	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taatcaagtccccttccaatCttaatcatccatccattgtt	2	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99786049C>A	ENST00000289359.2	-	6	694	c.618G>T	c.(616-618)aaG>aaT	p.K206N	MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	206					protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						CCCTTCCAATCTTAATCATCC	0.289													False	0	False	2:99786049	0	A	99786049	C	A	99786049	3	1	88	1	0	0	0	0	1	0	0	0	9662	912	32	3	139	3	MITD1	2	99786049	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63956	99786049	143413324	2587	10299											
MITD1	129531	broad.mit.edu	37	chr2	99797352	99797352	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taacacaccagagcctgcggAtaccgcgactccgaatctag	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99797352A>G	ENST00000289359.2	-	1	169	c.93T>C	c.(91-93)taT>taC	p.Y31Y	MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	31	MIT.				protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						GAGCCTGCGGATACCGCGACT	0.577													False	0	False	2:99797352	0	G	99797352	A	G	99797352	2	3	88	1	0	0	0	0	0	0	0	1	9662	340	12	4		4	MITD1	2	99797352	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11303	99797352	143402021	2588	10300											
LYG2	254773	broad.mit.edu	37	chr2	99858877	99858877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagcaatgatatcattgaCgaagtcattgtctatgtccg	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99858877C>T	ENST00000333017.2	-	6	701	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	LYG2_ENST00000409238.1_Missense_Mutation_p.V197I|LYG2_ENST00000423800.1_3'UTR	NM_175735.3	NP_783862.2	Q86SG7	LYG2_HUMAN	lysozyme G-like 2	197					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						ATATCATTGACGAAGTCATTG	0.463													False	0	False	2:99858877	0	T	99858877	C	T	99858877	3	4	88	1	0	0	0	0	1	0	0	0	9168	536	19	1	53	1	LYG2	2	99858877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61525	99858877	143340496	2589	10301											
LYG2	254773	broad.mit.edu	37	chr2	99860445	99860445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcatttaaacaaagtaCtcagaatacagcctaccttt	4	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99860445C>A	ENST00000409679.1	-	5	681	c.537G>T	c.(535-537)gaG>gaT	p.E179D	LYG2_ENST00000409238.1_Intron|LYG2_ENST00000333017.2_Intron|LYG2_ENST00000423800.1_Intron			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	0				GLSAFKSG -> RLYSEYFY (in Ref. 4).	cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						AAACAAAGTACTCAGAATACA	0.502													False	0	False	2:99860445	0	A	99860445	C	A	99860445	3	1	88	1	0	0	0	0	1	0	0	0	9168	580	20	3		3	LYG2	2	99860445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1568	99860445	143338928	2590	10302											
LYG2	254773	broad.mit.edu	37	chr2	99863270	99863270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgactgaaggggtatgaGcccctggaagtgcctaggag	17	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99863270G>A	ENST00000409679.1	-	3	201	c.57C>T	c.(55-57)ggC>ggT	p.G19G	LYG2_ENST00000409238.1_Silent_p.G19G|LYG2_ENST00000333017.2_Silent_p.G19G|LYG2_ENST00000423800.1_Silent_p.G19G			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	19				G -> S (in Ref. 4; AAK16605/AAO32945).	cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						AGGGGTATGAGCCCCTGGAAG	0.498													False	0	True	2:99863270	0	A	99863270	G	A	99863270	2	1	88	1	0	0	0	0	0	0	0	1	9168	958	34	2		2	LYG2	2	99863270	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2825	99863270	143336103	2591	10303											
LYG1	129530	broad.mit.edu	37	chr2	99907721	99907721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccatgctagtcctatcGcccatgttgaccagaatttt	7	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99907721G>A	ENST00000409448.1	-	6	628	c.312C>T	c.(310-312)ggC>ggT	p.G104G	LYG1_ENST00000308528.4_Silent_p.G104G			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	104					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TAGTCCTATCGCCCATGTTGA	0.493													False	0	True	2:99907721	0	A	99907721	G	A	99907721	2	1	88	1	0	0	0	0	0	0	0	1	9167	1074	38	1		1	LYG1	2	99907721	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44451	99907721	143291652	2592	10304											
LYG1	129530	broad.mit.edu	37	chr2	99909020	99909020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtagttcaggccgtgacGtcttccaatcccacaagatg	9	12	2	2	rs149258901	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909020G>A	ENST00000409448.1	-	5	443	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	LYG1_ENST00000308528.4_Missense_Mutation_p.R43C			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	43					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGGCCGTGACGTCTTCCAATC	0.512													False	0	False	2:99909020	0	A	99909020	G	A	99909020	3	1	88	1	0	0	0	0	1	0	0	0	9167	1145	40	1	473	1	LYG1	2	99909020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1299	99909020	143290353	2593	10305											
LYG1	129530	broad.mit.edu	37	chr2	99909057	99909057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctccaggggtgtccagGctttggatgtttccatagca	13	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909057G>A	ENST00000409448.1	-	5	406	c.90C>T	c.(88-90)agC>agT	p.S30S	LYG1_ENST00000308528.4_Silent_p.S30S			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	30					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GGGTGTCCAGGCTTTGGATGT	0.493													False	0	False	2:99909057	0	A	99909057	G	A	99909057	2	1	88	1	0	0	0	0	0	0	0	1	9167	1194	42	2		2	LYG1	2	99909057	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	99909057	143290316	2594	10306											
LYG1	129530	broad.mit.edu	37	chr2	99909097	99909097	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atccccagttgctgctttcaGacaagtctacaagttgagaa	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909097G>T	ENST00000409448.1	-	5	366	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	LYG1_ENST00000308528.4_Missense_Mutation_p.S17Y			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	17					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GCTGCTTTCAGACAAGTCTAC	0.423													False	0	False	2:99909097	0	T	99909097	G	T	99909097	3	4	88	1	0	0	0	0	1	0	0	0	9167	942	33	3	550	3	LYG1	2	99909097	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40	99909097	143290276	2595	10307											
EIF5B	9669	broad.mit.edu	37	chr2	99980843	99980843	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaatcccagagagaagccaGagccagagccgaagctactc	10	12	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99980843G>T	ENST00000289371.6	+	6	1449	c.1247G>T	c.(1246-1248)aGa>aTa	p.R416I		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAGAAGCCAGAGCCAGAGCC	0.398													False	0	True	2:99980843	0	T	99980843	G	T	99980843	3	4	88	1	0	0	0	0	1	0	0	0	5076	942	33	3	1269	3	EIF5B	2	99980843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71746	99980843	143218530	2596	10308											
EIF5B	9669	broad.mit.edu	37	chr2	100011029	100011029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttatgaaggcttcagtgAtgttggaacatgaccctcag	11	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100011029A>G	ENST00000289371.6	+	20	3272	c.3070A>G	c.(3070-3072)Atg>Gtg	p.M1024V		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGCTTCAGTGATGTTGGAACA	0.368													False	0	False	2:100011029	0	G	100011029	A	G	100011029	3	3	88	1	0	0	0	0	1	0	0	0	5076	333	12	4	3148	4	EIF5B	2	100011029	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30186	100011029	143188344	2597	10309											
REV1	51455	broad.mit.edu	37	chr2	100029261	100029261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccttttcagttcgaactgGtctatcatccaagccacggc	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100029261G>A	ENST00000258428.3	-	13	2332	c.2104C>T	c.(2104-2106)Cca>Tca	p.P702S	REV1_ENST00000393445.3_Missense_Mutation_p.P701S|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	702					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTCGAACTGGTCTATCATCC	0.403								Direct reversal of damage					False	0	False	2:100029261	0	A	100029261	G	A	100029261	3	1	88	1	0	0	0	0	1	0	0	0	13318	1261	44	2	1695	2	REV1	2	100029261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18232	100029261	143170112	2598	10310											
AFF3	3899	broad.mit.edu	37	chr2	100209827	100209827	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggtcgattttgacccagaGagacctgatctcatcactgt	9	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100209827G>T	ENST00000409236.2	-	13	2408	c.2296C>A	c.(2296-2298)Ctc>Atc	p.L766I	AFF3_ENST00000317233.4_Missense_Mutation_p.L766I|AFF3_ENST00000409579.1_Missense_Mutation_p.L791I|AFF3_ENST00000356421.2_Missense_Mutation_p.L791I			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTGACCCAGAGAGACCTGATC	0.577													False	0	True	2:100209827	0	T	100209827	G	T	100209827	3	4	88	1	0	0	0	0	1	0	0	0	358	942	33	3	1428	3	AFF3	2	100209827	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180566	100209827	142989546	2599	10311											
AFF3	3899	broad.mit.edu	37	chr2	100210030	100210030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcccggaggaggcagagGcagccacggtctgtgctttg	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210030G>A	ENST00000409236.2	-	13	2205	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	AFF3_ENST00000317233.4_Missense_Mutation_p.A698V|AFF3_ENST00000409579.1_Missense_Mutation_p.A723V|AFF3_ENST00000356421.2_Missense_Mutation_p.A723V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGAGGCAGAGGCAGCCACGGT	0.617													False	0	True	2:100210030	0	A	100210030	G	A	100210030	3	1	88	1	0	0	0	0	1	0	0	0	358	1203	42	2	1631	2	AFF3	2	100210030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203	100210030	142989343	2600	10312											
AFF3	3899	broad.mit.edu	37	chr2	100210308	100210308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcggccgcgggctcctcGggccggtggcagttggcgcc	18	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210308G>A	ENST00000409236.2	-	13	1927	c.1815C>T	c.(1813-1815)ccC>ccT	p.P605P	AFF3_ENST00000317233.4_Silent_p.P605P|AFF3_ENST00000409579.1_Silent_p.P630P|AFF3_ENST00000356421.2_Silent_p.P630P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGGCTCCTCGGGCCGGTGGC	0.751													False	0	True	2:100210308	0	A	100210308	G	A	100210308	2	1	88	1	0	0	0	0	0	0	0	1	358	1103	39	1		1	AFF3	2	100210308	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	100210308	142989065	2601	10313											
AFF3	3899	broad.mit.edu	37	chr2	100266103	100266103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacctgtcagagagagcgCggagagccgttctctgagct	14	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100266103C>T	ENST00000409236.2	-	11	1281	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	AFF3_ENST00000317233.4_Missense_Mutation_p.R390H|AFF3_ENST00000409579.1_Missense_Mutation_p.R415H|AFF3_ENST00000356421.2_Missense_Mutation_p.R415H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGAGAGAGCGCGGAGAGCCGT	0.363													False	0	False	2:100266103	0	T	100266103	C	T	100266103	3	4	88	1	0	0	0	0	1	0	0	0	358	768	27	1	2563	1	AFF3	2	100266103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55795	100266103	142933270	2602	10314											
AFF3	3899	broad.mit.edu	37	chr2	100453987	100453987	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttctccagatctactctcCtgaaagcaaagaaaaaaaaa	5	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100453987C>A	ENST00000409236.2	-	6	986		c.e6-1		AFF3_ENST00000317233.4_Splice_Site|AFF3_ENST00000409579.1_Splice_Site|AFF3_ENST00000356421.2_Splice_Site			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATCTACTCTCCTGAAAGCAAA	0.368													False	0	False	2:100453987	0	A	100453987	C	A	100453987	5	1	88	1	0	0	0	0	0	0	1	0	358	695	24	3	2879	3	AFF3	2	100453987	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187884	100453987	142745386	2603	10315											
AFF3	3899	broad.mit.edu	37	chr2	100623808	100623808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctgaggaaccccaggttTgggaactccaacgagatgac	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100623808T>C	ENST00000409236.2	-	4	401	c.289A>G	c.(289-291)Aaa>Gaa	p.K97E	AFF3_ENST00000317233.4_Missense_Mutation_p.K97E|AFF3_ENST00000409579.1_Missense_Mutation_p.K122E|AFF3_ENST00000356421.2_Missense_Mutation_p.K122E			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACCCCAGGTTTGGGAACTCCA	0.438													False	0	True	2:100623808	0	C	100623808	T	C	100623808	3	2	88	1	0	0	0	0	1	0	0	0	358	1821	63	4	3471	4	AFF3	2	100623808	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	169821	100623808	142575565	2604	10316											
LONRF2	164832	broad.mit.edu	37	chr2	100903511	100903511	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcggcaagttcttcataCtctggaccctccacctgatc	8	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100903511C>A	ENST00000393437.3	-	11	2574	c.1935G>T	c.(1933-1935)gaG>gaT	p.E645D	LONRF2_ENST00000409647.1_Missense_Mutation_p.E402D	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	645	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GTTCTTCATACTCTGGACCCT	0.488													False	0	False	2:100903511	0	A	100903511	C	A	100903511	3	1	88	1	0	0	0	0	1	0	0	0	8957	564	20	3	337	3	LONRF2	2	100903511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279703	100903511	142295862	2605	10317											
CHST10	9486	broad.mit.edu	37	chr2	101010006	101010006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacccagtgaatgatgtggtCcccaaactgaaggtctagcc	10	12	1	3	rs3748932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101010006C>T	ENST00000264249.3	-	7	1157	c.772G>A	c.(772-774)Gac>Aac	p.D258N	CHST10_ENST00000409701.1_Missense_Mutation_p.D258N|CHST10_ENST00000542617.1_Missense_Mutation_p.D306N	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	258			D -> N (in dbSNP:rs3748932).		carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ATGATGTGGTCCCCAAACTGA	0.547													False	0	True	2:101010006	0	T	101010006	C	T	101010006	3	4	88	1	0	0	0	0	1	0	0	0	3421	855	30	2	302	2	CHST10	2	101010006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106495	101010006	142189367	2606	10318											
PDCL3	79031	broad.mit.edu	37	chr2	101186141	101186141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaagaagttaccaaagCtggcgagggcttgtgggtca	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101186141C>T	ENST00000264254.6	+	4	704	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	109					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GTTACCAAAGCTGGCGAGGGC	0.428													False	0	False	2:101186141	0	T	101186141	C	T	101186141	3	4	88	1	0	0	0	0	1	0	0	0	11696	797	28	2	340	2	PDCL3	2	101186141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176135	101186141	142013232	2607	10319											
NPAS2	4862	broad.mit.edu	37	chr2	101584767	101584767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagtttggcaaagggaagtCgtgttgctaccggtttctga	14	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101584767C>T	ENST00000335681.5	+	11	1217	c.932C>T	c.(931-933)tCg>tTg	p.S311L	NPAS2_ENST00000542504.1_Missense_Mutation_p.S376L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	311	PAC.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAGGGAAGTCGTGTTGCTAC	0.443													False	0	False	2:101584767	0	T	101584767	C	T	101584767	3	4	88	1	0	0	0	0	1	0	0	0	10631	893	31	1	970	1	NPAS2	2	101584767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	398626	101584767	141614606	2608	10320											
NPAS2	4862	broad.mit.edu	37	chr2	101587499	101587499	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagctggctctggaagAcccgccatccgaggccctcc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101587499A>G	ENST00000335681.5	+	12	1388	c.1103A>G	c.(1102-1104)gAc>gGc	p.D368G	NPAS2_ENST00000542504.1_Missense_Mutation_p.D433G	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	368					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCTGGAAGACCCGCCATCC	0.557													False	0	True	2:101587499	0	G	101587499	A	G	101587499	3	3	88	1	0	0	0	0	1	0	0	0	10631	275	10	4	1145	4	NPAS2	2	101587499	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2732	101587499	141611874	2609	10321											
NPAS2	4862	broad.mit.edu	37	chr2	101606760	101606760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagctaatgcagagcagcGgccgctctggaagcagccta	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101606760G>T	ENST00000335681.5	+	18	2155	c.1870G>T	c.(1870-1872)Ggc>Tgc	p.G624C	NPAS2_ENST00000542504.1_Missense_Mutation_p.G689C	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	624					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGAGCAGCGGCCGCTCTGG	0.572													False	0	False	2:101606760	0	T	101606760	G	T	101606760	3	4	88	1	0	0	0	0	1	0	0	0	10631	1116	39	3	1936	3	NPAS2	2	101606760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19261	101606760	141592613	2610	10322											
TBC1D8	11138	broad.mit.edu	37	chr2	101624596	101624596	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actcctgggagcagcttccaGagctgctgcctcgctgcccc	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101624596G>T	ENST00000409318.1	-	20	3285	c.3155C>A	c.(3154-3156)tCt>tAt	p.S1052Y	RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409650.1_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.S1037Y|RPL31_ENST00000409028.4_Intron	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1037					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCAGCTTCCAGAGCTGCTGCC	0.582													False	0	False	2:101624596	0	T	101624596	G	T	101624596	3	4	88	1	0	0	0	0	1	0	0	0	15707	942	33	3	316	3	TBC1D8	2	101624596	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17836	101624596	141574777	2611	10323											
TBC1D8	11138	broad.mit.edu	37	chr2	101624689	101624689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcattttcttctggatctTcatggaacatactgtacaga	6	8	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101624689T>C	ENST00000409318.1	-	20	3192	c.3062A>G	c.(3061-3063)gAa>gGa	p.E1021G	RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409650.1_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.E1006G|RPL31_ENST00000409028.4_Intron	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1006					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TTCTGGATCTTCATGGAACAT	0.468													False	0	False	2:101624689	0	C	101624689	T	C	101624689	3	2	88	1	0	0	0	0	1	0	0	0	15707	1783	62	4	409	4	TBC1D8	2	101624689	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	93	101624689	141574684	2612	10324											
RNF149	284996	broad.mit.edu	37	chr2	101905443	101905443	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaacatacttgcatggCagaattctaataatatcctt	5	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101905443C>T	ENST00000295317.3	-	4	962	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	285						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						ACTTGCATGGCAGAATTCTAA	0.279													False	0	False	2:101905443	0	T	101905443	C	T	101905443	2	4	88	1	0	0	0	0	0	0	0	1	13529	697	25	2		2	RNF149	2	101905443	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280754	101905443	141293930	2613	10325											
IL1R2	7850	broad.mit.edu	37	chr2	102641091	102641091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgacacccacatagagaGcgcctacccgggaggccgcg	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:102641091G>A	ENST00000332549.3	+	7	1077	c.848G>A	c.(847-849)aGc>aAc	p.S283N	IL1R2_ENST00000441002.1_Missense_Mutation_p.S283N|IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Missense_Mutation_p.S283N	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	283	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CACATAGAGAGCGCCTACCCG	0.582													False	0	True	2:102641091	0	A	102641091	G	A	102641091	3	1	88	1	0	0	0	0	1	0	0	0	7709	971	34	2	870	2	IL1R2	2	102641091	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	735648	102641091	140558282	2614	10326											
IL1RL2	8808	broad.mit.edu	37	chr2	102818144	102818144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacactcagggaagcagtaCgaggttttaaatggcatcac	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:102818144C>T	ENST00000264257.2	+	5	744	c.618C>T	c.(616-618)taC>taT	p.Y206Y	IL1RL2_ENST00000539491.1_Silent_p.Y206Y|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.Y89Y	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	206	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGAAGCAGTACGAGGTTTTAA	0.478													False	0	False	2:102818144	0	T	102818144	C	T	102818144	2	4	88	1	0	0	0	0	0	0	0	1	7714	547	19	1		1	IL1RL2	2	102818144	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177053	102818144	140381229	2615	10327											
IL18R1	8809	broad.mit.edu	37	chr2	103013310	103013310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtcaagccaggtagagaCgaaccggaagtcttgcctgt	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103013310C>T	ENST00000409599.1	+	12	1946	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	IL18R1_ENST00000233957.1_Silent_p.D530D			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	530					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CAGGTAGAGACGAACCGGAAG	0.423													False	0	False	2:103013310	0	T	103013310	C	T	103013310	2	4	88	1	0	0	0	0	0	0	0	1	7697	535	19	1		1	IL18R1	2	103013310	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195166	103013310	140186063	2616	10328											
IL18RAP	8807	broad.mit.edu	37	chr2	103068334	103068334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaactacaagcagcagTgaatcttgccttggatgatc	9	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103068334T>C	ENST00000264260.2	+	12	2082	c.1493T>C	c.(1492-1494)gTg>gCg	p.V498A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.V356A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	498	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAAGCAGCAGTGAATCTTGCC	0.393													False	0	False	2:103068334	0	C	103068334	T	C	103068334	3	2	88	1	0	0	0	0	1	0	0	0	7698	1696	59	4	1531	4	IL18RAP	2	103068334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55024	103068334	140131039	2617	10329											
SLC9A4	389015	broad.mit.edu	37	chr2	103095444	103095444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatctacttcctgtatctcCtgccacccatcgttctggag	7	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103095444C>A	ENST00000295269.4	+	2	860	c.403C>A	c.(403-405)Ctg>Atg	p.L135M		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	135					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTGTATCTCCTGCCACCCAT	0.612													False	0	False	2:103095444	0	A	103095444	C	A	103095444	3	1	88	1	0	0	0	0	1	0	0	0	14796	680	24	3	409	3	SLC9A4	2	103095444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27110	103095444	140103929	2618	10330											
SLC9A4	389015	broad.mit.edu	37	chr2	103141507	103141507	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctacaacaaatacaacCtcaaaccccaaacaagtgag	4	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103141507C>A	ENST00000295269.4	+	10	2300	c.1843C>A	c.(1843-1845)Ctc>Atc	p.L615I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	615					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAAATACAACCTCAAACCCCA	0.488													False	0	False	2:103141507	0	A	103141507	C	A	103141507	3	1	88	1	0	0	0	0	1	0	0	0	14796	681	24	3	1881	3	SLC9A4	2	103141507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46063	103141507	140057866	2619	10331											
SLC9A2	6549	broad.mit.edu	37	chr2	103281562	103281562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttttttttcctgcaggtcCtgtacaacttgttcaagtcg	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103281562C>A	ENST00000233969.2	+	3	899	c.757C>A	c.(757-759)Ctg>Atg	p.L253M		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	253						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCTGCAGGTCCTGTACAACTT	0.443													False	0	False	2:103281562	0	A	103281562	C	A	103281562	3	1	88	1	0	0	0	0	1	0	0	0	14792	680	24	3	767	3	SLC9A2	2	103281562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140055	103281562	139917811	2620	10332											
SLC9A2	6549	broad.mit.edu	37	chr2	103300642	103300642	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggttccggaccattcccctGacctttaaggaccagttcat	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103300642G>A	ENST00000233969.2	+	5	1414	c.1272G>A	c.(1270-1272)ctG>ctA	p.L424L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	424						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCATTCCCCTGACCTTTAAGG	0.463													False	0	False	2:103300642	0	A	103300642	G	A	103300642	2	1	88	1	0	0	0	0	0	0	0	1	14792	1277	45	2		2	SLC9A2	2	103300642	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19080	103300642	139898731	2621	10333											
MFSD9	84804	broad.mit.edu	37	chr2	103353247	103353247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggggccgagttcatgTcccagtgacccccaagctcc	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103353247T>C	ENST00000258436.5	-	1	66	c.23A>G	c.(22-24)gAc>gGc	p.D8G		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	8					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGAGTTCATGTCCCAGTGACC	0.721													False	0	True	2:103353247	0	C	103353247	T	C	103353247	3	2	88	1	0	0	0	0	1	0	0	0	9606	1667	58	4	1425	4	MFSD9	2	103353247	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52605	103353247	139846126	2622	10334											
TMEM182	130827	broad.mit.edu	37	chr2	103378707	103378707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatcgctatcttctttggaGctctctttggtgctttgggg	11	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103378707G>T	ENST00000412401.2	+	1	236	c.31G>T	c.(31-33)Gct>Tct	p.A11S	TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	11						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CTTCTTTGGAGCTCTCTTTGG	0.368													False	0	True	2:103378707	0	T	103378707	G	T	103378707	3	4	88	1	0	0	0	0	1	0	0	0	16183	971	34	3	33	3	TMEM182	2	103378707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25460	103378707	139820666	2623	10335											
TMEM182	130827	broad.mit.edu	37	chr2	103414328	103414328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggggtctccagtttaccGtggtttctgggcagtcctga	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103414328G>A	ENST00000412401.2	+	4	543	c.338G>A	c.(337-339)cGt>cAt	p.R113H	TMEM182_ENST00000409528.1_Missense_Mutation_p.R17H|TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Missense_Mutation_p.R70H	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	113						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CCAGTTTACCGTGGTTTCTGG	0.463													False	0	False	2:103414328	0	A	103414328	G	A	103414328	3	1	88	1	0	0	0	0	1	0	0	0	16183	1145	40	1	352	1	TMEM182	2	103414328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35621	103414328	139785045	2624	10336											
TMEM182	130827	broad.mit.edu	37	chr2	103431254	103431254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgtcatctgggtccagGcagtggctgacatggaaagc	14	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103431254G>A	ENST00000412401.2	+	5	722	c.517G>A	c.(517-519)Gca>Aca	p.A173T	TMEM182_ENST00000409528.1_Missense_Mutation_p.A77T|TMEM182_ENST00000486293.1_Intron|TMEM182_ENST00000409173.1_Missense_Mutation_p.A130T	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	173						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CTGGGTCCAGGCAGTGGCTGA	0.468													False	0	False	2:103431254	0	A	103431254	G	A	103431254	3	1	88	1	0	0	0	0	1	0	0	0	16183	1203	42	2	535	2	TMEM182	2	103431254	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16926	103431254	139768119	2625	10337											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105915065	105915065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgaattcgtcatcgagCgctatgacgtatggaaagga	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105915065C>T	ENST00000393359.2	-	3	1212	c.786G>A	c.(784-786)gcG>gcA	p.A262A	TGFBRAP1_ENST00000258449.1_Silent_p.A262A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	262	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	p.A262A(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CGTCATCGAGCGCTATGACGT	0.542													False	0	False	2:105915065	0	T	105915065	C	T	105915065	2	4	88	1	0	0	0	0	0	0	0	1	15906	755	27	1		1	TGFBRAP1	2	105915065	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2483811	105915065	137284308	2626	10338											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924245	105924245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgtccacagccacagCgaggggctgctcggcagtcg	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105924245C>T	ENST00000393359.2	-	2	940	c.514G>A	c.(514-516)Gct>Act	p.A172T	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A172T			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	172	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ACAGCCACAGCGAGGGGCTGC	0.562													False	0	False	2:105924245	0	T	105924245	C	T	105924245	3	4	88	1	0	0	0	0	1	0	0	0	15906	768	27	1	2112	1	TGFBRAP1	2	105924245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9180	105924245	137275128	2627	10339											
C2orf49	79074	broad.mit.edu	37	chr2	105954037	105954037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgactggggtctcctggCgacgaccatggcgggggatg	18	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105954037C>T	ENST00000437250.2	+	1	222	c.107C>T	c.(106-108)gCg>gTg	p.A36V	C2orf49_ENST00000258457.2_5'UTR|C2orf49_ENST00000410049.1_5'UTR			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	0						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						GGTCTCCTGGCGACGACCATG	0.652													False	0	False	2:105954037	0	T	105954037	C	T	105954037	3	4	88	1	0	0	0	0	1	0	0	0	2187	783	27	1		1	C2orf49	2	105954037	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29792	105954037	137245336	2628	10340											
FHL2	2274	broad.mit.edu	37	chr2	105977891	105977891	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtattttgtgccaccaagtCctgttaacagagagaaaata	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105977891C>T	ENST00000409177.1	-	6	1158	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E	FHL2_ENST00000358129.4_Splice_Site_p.G230E|FHL2_ENST00000409807.1_Splice_Site_p.G230E|FHL2_ENST00000344213.4_Splice_Site_p.G340E|FHL2_ENST00000393353.3_Splice_Site_p.G230E|FHL2_ENST00000393352.3_Splice_Site_p.G230E|FHL2_ENST00000408995.1_Splice_Site_p.G230E|FHL2_ENST00000322142.8_Splice_Site_p.G230E|FHL2_ENST00000336660.5_3'UTR			Q14192	FHL2_HUMAN	four and a half LIM domains 2	230					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						GCCACCAAGTCCTGTTAACAG	0.443													False	0	False	2:105977891	0	T	105977891	C	T	105977891	5	4	88	1	0	0	0	0	0	0	1	0	5919	869	30	2	154	2	FHL2	2	105977891	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23854	105977891	137221482	2629	10341											
NCK2	8440	broad.mit.edu	37	chr2	106471526	106471526	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggactccatgaaagatgacaGaagaagttattgtgatagcc	11	6	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106471526G>A	ENST00000233154.4	+	3	449	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	AC009505.2_ENST00000427050.2_RNA|NCK2_ENST00000451463.2_Missense_Mutation_p.E3K|AC009505.2_ENST00000596418.1_RNA|NCK2_ENST00000522586.1_Missense_Mutation_p.E3K|NCK2_ENST00000393349.2_Missense_Mutation_p.E3K	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	3	SH3 1.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						AAAGATGACAGAAGAAGTTAT	0.483													False	0	False	2:106471526	0	A	106471526	G	A	106471526	3	1	88	1	0	0	0	0	1	0	0	0	10288	943	33	2	9	2	NCK2	2	106471526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493635	106471526	136727847	2630	10342											
NCK2	8440	broad.mit.edu	37	chr2	106498449	106498449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggcaccaggccgagtgcGccctcaacgagcggggcgtg	17	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106498449G>A	ENST00000233154.4	+	4	1334	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.A298T	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	298	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GGCCGAGTGCGCCCTCAACGA	0.672													False	0	True	2:106498449	0	A	106498449	G	A	106498449	3	1	88	1	0	0	0	0	1	0	0	0	10288	1087	38	1	898	1	NCK2	2	106498449	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26923	106498449	136700924	2631	10343											
NCK2	8440	broad.mit.edu	37	chr2	106509467	106509467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctccgtgtcccttaaagcGtcagggaagaacaaacactt	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106509467G>A	ENST00000233154.4	+	5	1420	c.978G>A	c.(976-978)gcG>gcA	p.A326A	NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000522586.1_3'UTR|NCK2_ENST00000393349.2_Silent_p.A326A	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	326	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						CCCTTAAAGCGTCAGGGAAGA	0.557													False	0	False	2:106509467	0	A	106509467	G	A	106509467	2	1	88	1	0	0	0	0	0	0	0	1	10288	1132	40	1		1	NCK2	2	106509467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11018	106509467	136689906	2632	10344											
C2orf40	84417	broad.mit.edu	37	chr2	106690369	106690369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaactaagactaaagtggCcgttgatgagaataaagcca	9	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106690369C>T	ENST00000409944.1	+	4	278	c.47C>T	c.(46-48)gCc>gTc	p.A16V	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000238044.3_Missense_Mutation_p.A52V			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	52						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						ACTAAAGTGGCCGTTGATGAG	0.522													False	0	False	2:106690369	0	T	106690369	C	T	106690369	3	4	88	1	0	0	0	0	1	0	0	0	2181	739	26	2	165	2	C2orf40	2	106690369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180902	106690369	136509004	2633	10345											
C2orf40	84417	broad.mit.edu	37	chr2	106694297	106694297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggcgattactaccaacGtcactatgatgaagactctg	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106694297G>A	ENST00000409944.1	+	5	485	c.254G>A	c.(253-255)cGt>cAt	p.R85H	C2orf40_ENST00000238044.3_Missense_Mutation_p.R121H			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	121						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						TACTACCAACGTCACTATGAT	0.453													False	0	False	2:106694297	0	A	106694297	G	A	106694297	3	1	88	1	0	0	0	0	1	0	0	0	2181	1145	40	1	376	1	C2orf40	2	106694297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3928	106694297	136505076	2634	10346											
UXS1	80146	broad.mit.edu	37	chr2	106739525	106739525	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtggccccagtaatcctcActttgagggtggacttcagg	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106739525A>G	ENST00000283148.7	-	9	757	c.660T>C	c.(658-660)agT>agC	p.S220S	UXS1_ENST00000409501.3_Silent_p.S215S|UXS1_ENST00000409032.1_Silent_p.S47S|UXS1_ENST00000540130.1_Silent_p.S158S|UXS1_ENST00000428048.2_Silent_p.S59S	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	215					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						AGTAATCCTCACTTTGAGGGT	0.453													False	0	False	2:106739525	0	G	106739525	A	G	106739525	2	3	88	1	0	0	0	0	0	0	0	1	17193	156	6	4		4	UXS1	2	106739525	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45228	106739525	136459848	2635	10347											
UXS1	80146	broad.mit.edu	37	chr2	106781241	106781241	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccattttcctggatagacCtgttgagtagaaagctataa	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106781241C>A	ENST00000283148.7	-	3	234	c.137G>T	c.(136-138)aGg>aTg	p.R46M	UXS1_ENST00000409501.3_Splice_Site|UXS1_ENST00000540130.1_Intron|UXS1_ENST00000428048.2_Intron	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	41					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTGGATAGACCTGTTGAGTAG	0.328													False	0	False	2:106781241	0	A	106781241	C	A	106781241	3	1	88	1	0	0	0	0	1	0	0	0	17193	695	24	3	1192	3	UXS1	2	106781241	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41716	106781241	136418132	2636	10348											
RGPD3	653489	broad.mit.edu	37	chr2	107040250	107040250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcagtatacgaacgtgCttattatcataattctgtaa	5	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107040250C>T	ENST00000409886.3	-	20	4260	c.4173G>A	c.(4171-4173)aaG>aaA	p.K1391K	RGPD3_ENST00000304514.7_Silent_p.K1391K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1391	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TACGAACGTGCTTATTATCAT	0.353													False	0	False	2:107040250	0	T	107040250	C	T	107040250	2	4	88	1	0	0	0	0	0	0	0	1	13366	796	28	2		2	RGPD3	2	107040250	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	259009	107040250	136159123	2637	10349											
RGPD3	653489	broad.mit.edu	37	chr2	107040937	107040937	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgctggcattcctcaaatttCtgcttgaattcttcagccag	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107040937C>T	ENST00000409886.3	-	20	3573	c.3486G>A	c.(3484-3486)caG>caA	p.Q1162Q	RGPD3_ENST00000304514.7_Silent_p.Q1162Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1162	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTCAAATTTCTGCTTGAATT	0.448													False	0	True	2:107040937	0	T	107040937	C	T	107040937	2	4	88	1	0	0	0	0	0	0	0	1	13366	912	32	2		2	RGPD3	2	107040937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	687	107040937	136158436	2638	10350											
RGPD3	653489	broad.mit.edu	37	chr2	107041054	107041054	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catgctctatctgatccagaGaggggcttcaggttcattgt	11	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107041054G>T	ENST00000409886.3	-	20	3456	c.3369C>A	c.(3367-3369)ctC>ctA	p.L1123L	RGPD3_ENST00000304514.7_Silent_p.L1123L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1123	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGATCCAGAGAGGGGCTTCA	0.438													False	0	True	2:107041054	0	T	107041054	G	T	107041054	2	4	88	1	0	0	0	0	0	0	0	1	13366	929	33	3		3	RGPD3	2	107041054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	107041054	136158319	2639	10351											
RGPD4	285190	broad.mit.edu	37	chr2	108488674	108488674	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagggaccaagtattaaaacTttgtgccaatcacacaataa	6	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108488674T>G	ENST00000408999.3	+	20	4291	c.4214T>G	c.(4213-4215)cTt>cGt	p.L1405R	RGPD4_ENST00000354986.4_Missense_Mutation_p.L1405R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1405	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTATTAAAACTTTGTGCCAAT	0.373													False	0	True	2:108488674	0	G	108488674	T	G	108488674	3	3	88	1	0	0	0	0	1	0	0	0	13367	1609	56	4	4292	4	RGPD4	2	108488674	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1447620	108488674	134710699	2640	10352											
SLC5A7	60482	broad.mit.edu	37	chr2	108609485	108609485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgtgaccatgttagaccCgtttcagcaaatctatggaa	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108609485C>T	ENST00000264047.2	+	4	626	c.350C>T	c.(349-351)cCg>cTg	p.P117L	SLC5A7_ENST00000409059.1_Missense_Mutation_p.P117L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P12L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	117					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGTTAGACCCGTTTCAGCAA	0.423													False	0	True	2:108609485	0	T	108609485	C	T	108609485	3	4	88	1	0	0	0	0	1	0	0	0	14750	652	23	1	360	1	SLC5A7	2	108609485	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120811	108609485	134589888	2641	10353											
SLC5A7	60482	broad.mit.edu	37	chr2	108609533	108609533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcggactcctgtttattcCtgcactgatgggagaaatgt	13	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108609533C>T	ENST00000264047.2	+	4	674	c.398C>T	c.(397-399)cCt>cTt	p.P133L	SLC5A7_ENST00000409059.1_Missense_Mutation_p.P133L|SLC5A7_ENST00000540517.1_Missense_Mutation_p.P28L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	133					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTGTTTATTCCTGCACTGATG	0.443													False	0	False	2:108609533	0	T	108609533	C	T	108609533	3	4	88	1	0	0	0	0	1	0	0	0	14750	681	24	2	408	2	SLC5A7	2	108609533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48	108609533	134589840	2642	10354											
SLC5A7	60482	broad.mit.edu	37	chr2	108622641	108622641	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccagccatactcattggggCcattggagcatcaacaggta	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108622641C>A	ENST00000264047.2	+	7	1154	c.878C>A	c.(877-879)gCc>gAc	p.A293D	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A293D|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A188D	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	293					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTCATTGGGGCCATTGGAGCA	0.537													False	0	True	2:108622641	0	A	108622641	C	A	108622641	3	1	88	1	0	0	0	0	1	0	0	0	14750	739	26	3	900	3	SLC5A7	2	108622641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13108	108622641	134576732	2643	10355											
SLC5A7	60482	broad.mit.edu	37	chr2	108626966	108626966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttgatcttctaccctggCtattaccctgatgataatgg	7	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108626966C>T	ENST00000264047.2	+	9	1668	c.1392C>T	c.(1390-1392)ggC>ggT	p.G464G	SLC5A7_ENST00000409059.1_Silent_p.G464G|SLC5A7_ENST00000540517.1_Silent_p.G359G	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	464					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TCTACCCTGGCTATTACCCTG	0.418													False	0	False	2:108626966	0	T	108626966	C	T	108626966	2	4	88	1	0	0	0	0	0	0	0	1	14750	784	28	2		2	SLC5A7	2	108626966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4325	108626966	134572407	2644	10356											
SULT1C4	27233	broad.mit.edu	37	chr2	108998883	108998883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccctcaccacggatcctgaAaacacatcttccctttcact	4	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108998883A>G	ENST00000272452.2	+	3	664	c.338A>G	c.(337-339)aAa>aGa	p.K113R	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	113					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGGATCCTGAAAACACATCTT	0.388													False	0	True	2:108998883	0	G	108998883	A	G	108998883	3	3	88	1	0	0	0	0	1	0	0	0	15461	14	1	4	348	4	SULT1C4	2	108998883	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	371917	108998883	134200490	2645	10357											
GCC2	9648	broad.mit.edu	37	chr2	109088536	109088536	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactactagaacaaaaagaAttacgagataggagagcaga	9	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109088536A>G	ENST00000309863.6	+	6	3465	c.2751A>G	c.(2749-2751)gaA>gaG	p.E917E		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	917					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACAAAAAGAATTACGAGATA	0.284													False	0	False	2:109088536	0	G	109088536	A	G	109088536	2	3	88	1	0	0	0	0	0	0	0	1	6329	98	4	4		4	GCC2	2	109088536	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	89653	109088536	134110837	2646	10358											
RANBP2	5903	broad.mit.edu	37	chr2	109352168	109352168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgaggcagagaggaacataGctttgcgttcaagtttagaa	12	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109352168G>T	ENST00000283195.6	+	5	712	c.586G>T	c.(586-588)Gct>Tct	p.A196S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	196					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAGGAACATAGCTTTGCGTTC	0.433													False	0	False	2:109352168	0	T	109352168	G	T	109352168	3	4	88	1	0	0	0	0	1	0	0	0	13107	971	34	3	604	3	RANBP2	2	109352168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263632	109352168	133847205	2647	10359											
RANBP2	5903	broad.mit.edu	37	chr2	109367806	109367806	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgctttacctggaatcCgaaaatggctaaaacagctt	8	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109367806C>T	ENST00000283195.6	+	10	1486	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	454					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACCTGGAATCCGAAAATGGCT	0.388													False	0	False	2:109367806	0	T	109367806	C	T	109367806	4	4	88	1	0	0	0	0	0	1	0	0	13107	644	23	1	1398	1	RANBP2	2	109367806	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15638	109367806	133831567	2648	10360											
RANBP2	5903	broad.mit.edu	37	chr2	109380402	109380402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatatgtttactttccatgGtccagggaaatcagtatttg	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109380402G>A	ENST00000283195.6	+	20	3533	c.3407G>A	c.(3406-3408)gGt>gAt	p.G1136D		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1136					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ACTTTCCATGGTCCAGGGAAA	0.423													False	0	False	2:109380402	0	A	109380402	G	A	109380402	3	1	88	1	0	0	0	0	1	0	0	0	13107	1261	44	2	3485	2	RANBP2	2	109380402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12596	109380402	133818971	2649	10361											
RANBP2	5903	broad.mit.edu	37	chr2	109383227	109383227	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taagaatgctgatgcgaagaGaacaagtactaaaagtgtgt	11	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109383227G>T	ENST00000283195.6	+	20	6358	c.6232G>T	c.(6232-6234)Gaa>Taa	p.E2078*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2078	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATGCGAAGAGAACAAGTACT	0.423													False	0	False	2:109383227	0	T	109383227	G	T	109383227	4	4	88	1	0	0	0	0	0	1	0	0	13107	943	33	3	6310	3	RANBP2	2	109383227	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2825	109383227	133816146	2650	10362											
RANBP2	5903	broad.mit.edu	37	chr2	109389383	109389383	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacagttgaagagaaggcaAaagcagatacgttaaaactt	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109389383A>C	ENST00000283195.6	+	23	8299	c.8173A>C	c.(8173-8175)Aaa>Caa	p.K2725Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2725	2 X 50 AA approximate repeats.|Interaction with SUMO1.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGAGAAGGCAAAAGCAGATAC	0.353													False	0	True	2:109389383	0	C	109389383	A	C	109389383	3	2	88	1	0	0	0	0	1	0	0	0	13107	15	1	4	8263	4	RANBP2	2	109389383	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6156	109389383	133809990	2651	10363											
CCDC138	165055	broad.mit.edu	37	chr2	109473334	109473334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgtttttggagtatcaggCtgttccagtaatattaagtc	9	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109473334C>A	ENST00000295124.4	+	13	1661	c.1601C>A	c.(1600-1602)gCt>gAt	p.A534D	CCDC138_ENST00000412964.2_Missense_Mutation_p.A534D	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	534										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GAGTATCAGGCTGTTCCAGTA	0.373													False	0	False	2:109473334	0	A	109473334	C	A	109473334	3	1	88	1	0	0	0	0	1	0	0	0	2792	797	28	3	1651	3	CCDC138	2	109473334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83951	109473334	133726039	2652	10364											
EDAR	10913	broad.mit.edu	37	chr2	109524431	109524431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcatcactgtcgacgCtccggctcagcagctgctca	9	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109524431C>A	ENST00000409271.1	-	10	1387	c.944G>T	c.(943-945)aGc>aTc	p.S315I	EDAR_ENST00000376651.1_Missense_Mutation_p.S315I|EDAR_ENST00000258443.2_Missense_Mutation_p.S283I			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	283					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACTGTCGACGCTCCGGCTCAG	0.632													False	0	False	2:109524431	0	A	109524431	C	A	109524431	3	1	88	1	0	0	0	0	1	0	0	0	4935	797	28	3	510	3	EDAR	2	109524431	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51097	109524431	133674942	2653	10365											
SH3RF3	344558	broad.mit.edu	37	chr2	109964294	109964294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcttcctcccagccagCtatatccagtgcatccagcc	8	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109964294C>T	ENST00000309415.6	+	2	738	c.738C>T	c.(736-738)agC>agT	p.S246S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	246	SH3 1.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCCCAGCCAGCTATATCCAGT	0.562													False	0	True	2:109964294	0	T	109964294	C	T	109964294	2	4	88	1	0	0	0	0	0	0	0	1	14341	796	28	2		2	SH3RF3	2	109964294	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439863	109964294	133235079	2654	10366											
SH3RF3	344558	broad.mit.edu	37	chr2	110036048	110036048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcccacgggctgcctcGgtgtctggagagcagggcac	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110036048G>A	ENST00000309415.6	+	5	1353	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	451							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGGCTGCCTCGGTGTCTGGAG	0.642													False	0	False	2:110036048	0	A	110036048	G	A	110036048	2	1	88	1	0	0	0	0	0	0	0	1	14341	1103	39	1		1	SH3RF3	2	110036048	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71754	110036048	133163325	2655	10367											
SH3RF3	344558	broad.mit.edu	37	chr2	110065683	110065683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccgtgtcacccctgcGcacccagaactctccatccc	6	21	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110065683G>A	ENST00000309415.6	+	8	1886	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	629							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCACCCCTGCGCACCCAGAAC	0.662													False	0	False	2:110065683	0	A	110065683	G	A	110065683	3	1	88	1	0	0	0	0	1	0	0	0	14341	1087	38	1	1916	1	SH3RF3	2	110065683	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29635	110065683	133133690	2656	10368											
SEPT10	151011	broad.mit.edu	37	chr2	110323436	110323436	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagcaaacggcaactgtcCctgaaaaagaatatcgagca	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110323436C>A	ENST00000356688.4	-	7	1078	c.763G>T	c.(763-765)Gga>Tga	p.G255*	SEPT10_ENST00000545389.1_Splice_Site_p.G88*|SEPT10_ENST00000437928.1_Splice_Site_p.G240*|SEPT10_ENST00000334001.6_Splice_Site_p.G122*|SEPT10_ENST00000397712.2_Splice_Site_p.G255*|SEPT10_ENST00000397714.2_Splice_Site_p.G232*|SEPT10_ENST00000415095.1_Splice_Site_p.G255*|SEPT10_ENST00000468616.1_5'UTR			Q9P0V9	SEP10_HUMAN	septin 10	255					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GGCAACTGTCCCTGAAAAAGA	0.388													False	0	True	2:110323436	0	A	110323436	C	A	110323436	5	1	88	1	0	0	0	0	0	0	1	0	14141	637	22	3	621	3	SEPT10	2	110323436	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257753	110323436	132875937	2657	10369											
NPHP1	4867	broad.mit.edu	37	chr2	110935995	110935995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaaggtagaaaggaagCatactcagttatattttctc	8	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110935995C>T	ENST00000418527.1	-	4	364	c.334G>A	c.(334-336)Gct>Act	p.A112T	NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000316534.4_Intron|NPHP1_ENST00000393272.3_Intron			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	0					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AGAAAGGAAGCATACTCAGTT	0.333													False	0	False	2:110935995	0	T	110935995	C	T	110935995	3	4	88	1	0	0	0	0	1	0	0	0	10647	725	25	2		2	NPHP1	2	110935995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	612559	110935995	132263378	2658	10370											
NPHP1	4867	broad.mit.edu	37	chr2	110936030	110936030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctctgcttattgtcacaGcaaggccctgcagttgttgg	10	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110936030G>T	ENST00000316534.4	-	4	372	c.299C>A	c.(298-300)gCt>gAt	p.A100D	NPHP1_ENST00000445609.2_Missense_Mutation_p.A100D|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000418527.1_Missense_Mutation_p.A100D|NPHP1_ENST00000417665.1_Missense_Mutation_p.A100D|NPHP1_ENST00000393272.3_Missense_Mutation_p.A100D			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	100					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TATTGTCACAGCAAGGCCCTG	0.363													False	0	False	2:110936030	0	T	110936030	G	T	110936030	3	4	88	1	0	0	0	0	1	0	0	0	10647	971	34	3	1970	3	NPHP1	2	110936030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35	110936030	132263343	2659	10371											
BUB1	699	broad.mit.edu	37	chr2	111398943	111398943	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgatttcacagtcatgCacttgctcaatcatgtaaag	7	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111398943C>A	ENST00000535254.1	-	21	2731	c.2664G>T	c.(2662-2664)gtG>gtT	p.V888V	BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000302759.6_Silent_p.V908V|BUB1_ENST00000409311.1_Intron	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	908	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CACAGTCATGCACTTGCTCAA	0.373													False	0	False	2:111398943	0	A	111398943	C	A	111398943	2	1	88	1	0	0	0	0	0	0	0	1	1577	697	25	3		3	BUB1	2	111398943	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	462913	111398943	131800430	2660	10372											
ACOXL	55289	broad.mit.edu	37	chr2	111551244	111551244	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcggaataatttattgGctatttggtggtgctatcag	12	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111551244G>A	ENST00000389811.4	+	4	401	c.177G>A	c.(175-177)tgG>tgA	p.W59*	ACOXL_ENST00000340561.4_Nonsense_Mutation_p.W59*|ACOXL_ENST00000439055.1_Nonsense_Mutation_p.W59*			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	59					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TAATTTATTGGCTATTTGGTG	0.413													False	0	False	2:111551244	0	A	111551244	G	A	111551244	4	1	88	1	0	0	0	0	0	1	0	0	161	1212	42	2	187	2	ACOXL	2	111551244	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152301	111551244	131648129	2661	10373											
ACOXL	55289	broad.mit.edu	37	chr2	111559251	111559251	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcatggtgtggacaatggGatattaatatttgacaaggt	12	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111559251G>A	ENST00000389811.4	+	8	794	c.570G>A	c.(568-570)ggG>ggA	p.G190G	ACOXL_ENST00000340561.4_Silent_p.G190G|ACOXL_ENST00000439055.1_Silent_p.G190G			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	190					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TGGACAATGGGATATTAATAT	0.468													False	0	True	2:111559251	0	A	111559251	G	A	111559251	2	1	88	1	0	0	0	0	0	0	0	1	161	1161	41	2		2	ACOXL	2	111559251	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8007	111559251	131640122	2662	10374											
ANAPC1	64682	broad.mit.edu	37	chr2	112601003	112601003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttacatttctagtccatgCtaagcggtctgtgttataac	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112601003C>T	ENST00000341068.3	-	17	2798	c.2026G>A	c.(2026-2028)Gca>Aca	p.A676T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	676					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTAGTCCATGCTAAGCGGTCT	0.353													False	0	False	2:112601003	0	T	112601003	C	T	112601003	3	4	88	1	0	0	0	0	1	0	0	0	598	797	28	2	3936	2	ANAPC1	2	112601003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1041752	112601003	130598370	2663	10375											
ANAPC1	64682	broad.mit.edu	37	chr2	112638284	112638284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagctggctgcagctggCgaagttgaaggttcaaagca	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112638284C>T	ENST00000341068.3	-	2	891	c.119G>A	c.(118-120)cGc>cAc	p.R40H	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	40					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTGCAGCTGGCGAAGTTGAAG	0.493													False	0	False	2:112638284	0	T	112638284	C	T	112638284	3	4	88	1	0	0	0	0	1	0	0	0	598	768	27	1	5903	1	ANAPC1	2	112638284	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37281	112638284	130561089	2664	10376											
MERTK	10461	broad.mit.edu	37	chr2	112722774	112722774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttccattccaggcctgaCggagatggcggtcttcagtt	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112722774C>T	ENST00000295408.4	+	5	1021	c.764C>T	c.(763-765)aCg>aTg	p.T255M	MERTK_ENST00000421804.2_Missense_Mutation_p.T255M|MERTK_ENST00000409780.1_Missense_Mutation_p.T79M			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	255	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CCAGGCCTGACGGAGATGGCG	0.483													False	0	False	2:112722774	0	T	112722774	C	T	112722774	3	4	88	1	0	0	0	0	1	0	0	0	9546	536	19	1	782	1	MERTK	2	112722774	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84490	112722774	130476599	2665	10377											
MERTK	10461	broad.mit.edu	37	chr2	112766019	112766019	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgaggcagcgtgcatgaaaGacttcagccacccaaatgtc	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112766019G>T	ENST00000295408.4	+	14	2184	c.1927G>T	c.(1927-1929)Gac>Tac	p.D643Y	MERTK_ENST00000421804.2_Missense_Mutation_p.D643Y|MERTK_ENST00000409780.1_Missense_Mutation_p.D467Y			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	643	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGCATGAAAGACTTCAGCCA	0.478													False	0	True	2:112766019	0	T	112766019	G	T	112766019	3	4	88	1	0	0	0	0	1	0	0	0	9546	942	33	3	1981	3	MERTK	2	112766019	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43245	112766019	130433354	2666	10378											
MERTK	10461	broad.mit.edu	37	chr2	112779036	112779036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgtgttgcggacttcGgcctctctaagaagatttac	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112779036G>A	ENST00000295408.4	+	17	2484	c.2227G>A	c.(2227-2229)Ggc>Agc	p.G743S	MERTK_ENST00000421804.2_Missense_Mutation_p.G743S|MERTK_ENST00000409780.1_Missense_Mutation_p.G567S			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	743	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGCGGACTTCGGCCTCTCTAA	0.483													False	0	False	2:112779036	0	A	112779036	G	A	112779036	3	1	88	1	0	0	0	0	1	0	0	0	9546	1116	39	1	2293	1	MERTK	2	112779036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13017	112779036	130420337	2667	10379											
FBLN7	129804	broad.mit.edu	37	chr2	112942917	112942917	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtgaagacgtctccattGtgagtatctccaggggaggc	13	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112942917G>A	ENST00000331203.2	+	7	1218		c.e7+1		FBLN7_ENST00000409667.3_Splice_Site|FBLN7_ENST00000409450.3_Splice_Site|FBLN7_ENST00000409903.1_Splice_Site	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7						cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGTCTCCATTGTGAGTATCTC	0.572													False	0	False	2:112942917	0	A	112942917	G	A	112942917	5	1	88	1	0	0	0	0	0	0	1	0	5741	1391	48	2	974	2	FBLN7	2	112942917	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163881	112942917	130256456	2668	10380											
FBLN7	129804	broad.mit.edu	37	chr2	112944947	112944947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaccggcagactggggAtctgatccttgtgcagaacc	12	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112944947A>G	ENST00000331203.2	+	8	1455	c.1184A>G	c.(1183-1185)gAt>gGt	p.D395G	FBLN7_ENST00000409667.3_Missense_Mutation_p.D261G|FBLN7_ENST00000409450.3_Missense_Mutation_p.D349G|FBLN7_ENST00000409903.1_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	395					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGACTGGGGATCTGATCCTT	0.647													False	0	True	2:112944947	0	G	112944947	A	G	112944947	3	3	88	1	0	0	0	0	1	0	0	0	5741	333	12	4	1214	4	FBLN7	2	112944947	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2030	112944947	130254426	2669	10381											
ZC3H6	376940	broad.mit.edu	37	chr2	113088934	113088934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcatcatgcaaatgctggCactaatgtcaaacacaaaag	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113088934C>T	ENST00000409871.1	+	12	2840	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	ZC3H6_ENST00000343936.4_Silent_p.G813G	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	813							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAAATGCTGGCACTAATGTCA	0.438													False	0	False	2:113088934	0	T	113088934	C	T	113088934	2	4	88	1	0	0	0	0	0	0	0	1	17654	697	25	2		2	ZC3H6	2	113088934	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143987	113088934	130110439	2670	10382											
POLR1B	84172	broad.mit.edu	37	chr2	113309541	113309541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactcaatgttcctgactggTacccaaatgagcaagctgcg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113309541T>C	ENST00000263331.5	+	6	1532	c.952T>C	c.(952-954)Tac>Cac	p.Y318H	POLR1B_ENST00000541869.1_Missense_Mutation_p.Y356H|POLR1B_ENST00000417433.2_Missense_Mutation_p.Y262H|POLR1B_ENST00000409894.3_Missense_Mutation_p.Y318H|POLR1B_ENST00000537335.1_Missense_Mutation_p.Y107H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	318					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCCTGACTGGTACCCAAATGA	0.438													False	0	False	2:113309541	0	C	113309541	T	C	113309541	3	2	88	1	0	0	0	0	1	0	0	0	12279	1638	57	4	974	4	POLR1B	2	113309541	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220607	113309541	129889832	2671	10383											
POLR1B	84172	broad.mit.edu	37	chr2	113315647	113315647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgctactgggaatctgcGttctaaaacaggtaaaatta	8	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113315647G>A	ENST00000263331.5	+	8	1899	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	POLR1B_ENST00000541869.1_Missense_Mutation_p.R478H|POLR1B_ENST00000417433.2_Missense_Mutation_p.R384H|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000537335.1_Missense_Mutation_p.R229H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	440					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGGAATCTGCGTTCTAAAACA	0.343													False	0	False	2:113315647	0	A	113315647	G	A	113315647	3	1	88	1	0	0	0	0	1	0	0	0	12279	1145	40	1	1349	1	POLR1B	2	113315647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6106	113315647	129883726	2672	10384											
POLR1B	84172	broad.mit.edu	37	chr2	113333196	113333196	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagaaaatacaactgtactCtgtgtagtcgcagtgacact	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113333196C>T	ENST00000263331.5	+	15	3878	c.3298C>T	c.(3298-3300)Ctg>Ttg	p.L1100L	POLR1B_ENST00000541869.1_Silent_p.L1138L|POLR1B_ENST00000417433.2_Silent_p.L1044L|POLR1B_ENST00000409894.3_Silent_p.L917L|POLR1B_ENST00000537335.1_Silent_p.L889L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1100					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CAACTGTACTCTGTGTAGTCG	0.458													False	0	False	2:113333196	0	T	113333196	C	T	113333196	2	4	88	1	0	0	0	0	0	0	0	1	12279	912	32	2		2	POLR1B	2	113333196	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17549	113333196	129866177	2673	10385											
SLC20A1	6574	broad.mit.edu	37	chr2	113416788	113416788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcttgactaggtgcagtGcagttgcctaatgggaacct	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416788G>A	ENST00000272542.3	+	8	1595	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	352					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAGGTGCAGTGCAGTTGCCTA	0.458													False	0	True	2:113416788	0	A	113416788	G	A	113416788	2	1	88	1	0	0	0	0	0	0	0	1	14519	1306	46	2		2	SLC20A1	2	113416788	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83592	113416788	129782585	2674	10386											
SLC20A1	6574	broad.mit.edu	37	chr2	113416903	113416903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attccggcctgtacaaagagCtactccataaattacatctt	5	11	1	1	rs11552050		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416903C>A	ENST00000272542.3	+	8	1710	c.1171C>A	c.(1171-1173)Cta>Ata	p.L391I	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	391					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTACAAAGAGCTACTCCATAA	0.478													False	0	False	2:113416903	0	A	113416903	C	A	113416903	3	1	88	1	0	0	0	0	1	0	0	0	14519	796	28	3	1197	3	SLC20A1	2	113416903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115	113416903	129782470	2675	10387											
CKAP2L	150468	broad.mit.edu	37	chr2	113513898	113513898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttctgatcttgcttgatGtttggatgtctgttgttata	10	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113513898G>A	ENST00000541405.1	-	4	1078	c.555C>T	c.(553-555)aaC>aaT	p.N185N	CKAP2L_ENST00000302450.6_Silent_p.N350N			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	350						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTGCTTGATGTTTGGATGTC	0.433													False	0	True	2:113513898	0	A	113513898	G	A	113513898	2	1	88	1	0	0	0	0	0	0	0	1	3466	1368	48	2		2	CKAP2L	2	113513898	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96995	113513898	129685475	2676	10388											
CKAP2L	150468	broad.mit.edu	37	chr2	113514322	113514322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattataagagtcagtctttGgcttacttctggtatataat	8	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113514322G>A	ENST00000541405.1	-	4	654	c.131C>T	c.(130-132)cCa>cTa	p.P44L	CKAP2L_ENST00000302450.6_Missense_Mutation_p.P209L			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	209						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GTCAGTCTTTGGCTTACTTCT	0.353													False	0	True	2:113514322	0	A	113514322	G	A	113514322	3	1	88	1	0	0	0	0	1	0	0	0	3466	1348	47	2	1635	2	CKAP2L	2	113514322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	424	113514322	129685051	2677	10389											
IL1B	3553	broad.mit.edu	37	chr2	113588108	113588108	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcttgttgaagacaaatcGcttttccatcttcttctttg	5	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113588108G>A	ENST00000263341.2	-	7	850	c.640C>T	c.(640-642)Cga>Tga	p.R214*	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	214					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	AAGACAAATCGCTTTTCCATC	0.423													False	0	False	2:113588108	0	A	113588108	G	A	113588108	4	1	88	1	0	0	0	0	0	1	0	0	7701	1095	38	1	173	1	IL1B	2	113588108	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73786	113588108	129611265	2678	10390											
PSD4	23550	broad.mit.edu	37	chr2	113940351	113940351	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagacaagatgctcctccCtggggctccggtgtggagct	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940351C>A	ENST00000441564.3	+	2	487	c.318C>A	c.(316-318)ccC>ccA	p.P106P	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000245796.6_Silent_p.P106P			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGCTCCTCCCTGGGGCTCCG	0.637													False	0	True	2:113940351	0	A	113940351	C	A	113940351	2	1	88	1	0	0	0	0	0	0	0	1	12725	668	24	3		3	PSD4	2	113940351	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	352243	113940351	129259022	2679	10391											
PSD4	23550	broad.mit.edu	37	chr2	113940800	113940800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcctggcgagtccttGctcagagaacagtgcttctg	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940800G>A	ENST00000441564.3	+	2	936	c.767G>A	c.(766-768)tGc>tAc	p.C256Y	PSD4_ENST00000245796.6_Missense_Mutation_p.C256Y			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGAGTCCTTGCTCAGAGAAC	0.597													False	0	False	2:113940800	0	A	113940800	G	A	113940800	3	1	88	1	0	0	0	0	1	0	0	0	12725	1319	46	2	769	2	PSD4	2	113940800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	449	113940800	129258573	2680	10392											
PSD4	23550	broad.mit.edu	37	chr2	113955353	113955353	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaccactgtctggagggggaGagcttggtggggcagatggt	20	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113955353G>T	ENST00000441564.3	+	14	2569	c.2400G>T	c.(2398-2400)gaG>gaT	p.E800D	PSD4_ENST00000245796.6_Missense_Mutation_p.E829D			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4		PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGAGGGGGAGAGCTTGGTGG	0.627													False	0	False	2:113955353	0	T	113955353	G	T	113955353	3	4	88	1	0	0	0	0	1	0	0	0	12725	933	33	3	2537	3	PSD4	2	113955353	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14553	113955353	129244020	2681	10393											
PSD4	23550	broad.mit.edu	37	chr2	113955419	113955419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctggccacccccgccacGcattacaccaagaagccgca	8	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113955419G>A	ENST00000441564.3	+	14	2635	c.2466G>A	c.(2464-2466)acG>acA	p.T822T	PSD4_ENST00000245796.6_Silent_p.T851T			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4		PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.T851T(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCCGCCACGCATTACACCA	0.652													False	0	False	2:113955419	0	A	113955419	G	A	113955419	2	1	88	1	0	0	0	0	0	0	0	1	12725	1074	38	1		1	PSD4	2	113955419	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66	113955419	129243954	2682	10394											
PAX8	7849	broad.mit.edu	37	chr2	114004419	114004419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctggtgggccaggtctaCgatgcgctggcggaccactt	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114004419C>T	ENST00000429538.3	-	3	297	c.103G>A	c.(103-105)Gta>Ata	p.V35I	AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.V35I|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.V35I|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.V35I|PAX8_ENST00000263335.7_Missense_Mutation_p.V35I	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	35	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCCAGGTCTACGATGCGCTGG	0.612			T	PPARG	follicular thyroid		Thyroid dysgenesis						False	0	False	2:114004419	0	T	114004419	C	T	114004419	3	4	88	1	0	0	0	0	1	0	0	0	11553	536	19	1	1164	1	PAX8	2	114004419	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49000	114004419	129194954	2683	10395											
RABL2A	11159	broad.mit.edu	37	chr2	114391779	114391779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaccctgtacaagcacacaGccacggtagatggcaagacc	10	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114391779G>T	ENST00000409875.1	+	5	489	c.187G>T	c.(187-189)Gcc>Tcc	p.A63S	RABL2A_ENST00000393167.3_Missense_Mutation_p.A63S|RABL2A_ENST00000376439.3_Missense_Mutation_p.A63S|RABL2A_ENST00000393166.3_Missense_Mutation_p.A63S|RABL2A_ENST00000409842.1_Missense_Mutation_p.A63S|RABL2A_ENST00000393165.3_Missense_Mutation_p.A63S			Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	63					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CAAGCACACAGCCACGGTAGA	0.552													False	0	True	2:114391779	0	T	114391779	G	T	114391779	3	4	88	1	0	0	0	0	1	0	0	0	13049	971	34	3	197	3	RABL2A	2	114391779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	387360	114391779	128807594	2684	10396											
RABL2A	11159	broad.mit.edu	37	chr2	114398497	114398497	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatatacagaggaaagtcacCtataggaacctgagcacctg	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114398497C>A	ENST00000409875.1	+	7	626	c.324C>A	c.(322-324)acC>acA	p.T108T	RABL2A_ENST00000393167.3_Silent_p.T108T|RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000393166.3_Silent_p.T108T|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000409842.1_Intron|RABL2A_ENST00000393165.3_Silent_p.T108T			Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	108					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						GGAAAGTCACCTATAGGAACC	0.502													False	0	False	2:114398497	0	A	114398497	C	A	114398497	2	1	88	1	0	0	0	0	0	0	0	1	13049	668	24	3		3	RABL2A	2	114398497	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6718	114398497	128800876	2685	10397											
SLC35F5	80255	broad.mit.edu	37	chr2	114476770	114476770	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcatataaaagcaaatattCttctgattcccaccatcaca	3	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114476770C>A	ENST00000245680.2	-	14	1870	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	486					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AGCAAATATTCTTCTGATTCC	0.313													False	0	False	2:114476770	0	A	114476770	C	A	114476770	3	1	88	1	0	0	0	0	1	0	0	0	14672	913	32	3	122	3	SLC35F5	2	114476770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78273	114476770	128722603	2686	10398											
SLC35F5	80255	broad.mit.edu	37	chr2	114501313	114501313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcagtatcaatgtttgtgCtctcaggtttttcacttgga	8	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114501313C>A	ENST00000245680.2	-	6	952	c.539G>T	c.(538-540)aGc>aTc	p.S180I	SLC35F5_ENST00000409342.1_Missense_Mutation_p.S174I	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	180					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AATGTTTGTGCTCTCAGGTTT	0.343													False	0	False	2:114501313	0	A	114501313	C	A	114501313	3	1	88	1	0	0	0	0	1	0	0	0	14672	797	28	3	1072	3	SLC35F5	2	114501313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24543	114501313	128698060	2687	10399											
DPP10	57628	broad.mit.edu	37	chr2	116066831	116066831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggaactgggaagtaacaGccctccacagagaaactgga	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116066831G>A	ENST00000410059.1	+	2	557	c.77G>A	c.(76-78)aGc>aAc	p.S26N	DPP10_ENST00000393147.2_Missense_Mutation_p.S30N|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.S19N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	26	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGAAGTAACAGCCCTCCACAG	0.408													False	0	True	2:116066831	0	A	116066831	G	A	116066831	3	1	88	1	0	0	0	0	1	0	0	0	4757	971	34	2	254	2	DPP10	2	116066831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1565518	116066831	127132542	2688	10400											
DPP10	57628	broad.mit.edu	37	chr2	116101424	116101424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcgtcagaaaccagattGtctttggaagacctctttag	8	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116101424G>A	ENST00000410059.1	+	3	687	c.207G>A	c.(205-207)ttG>ttA	p.L69L	DPP10_ENST00000393147.2_Silent_p.L73L|DPP10_ENST00000409163.1_Silent_p.L19L|DPP10_ENST00000310323.8_Silent_p.L62L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	69					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAACCAGATTGTCTTTGGAAG	0.343													False	0	False	2:116101424	0	A	116101424	G	A	116101424	2	1	88	1	0	0	0	0	0	0	0	1	4757	1368	48	2		2	DPP10	2	116101424	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34593	116101424	127097949	2689	10401											
DPP10	57628	broad.mit.edu	37	chr2	116101463	116101463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaagactttgtgcttcaCgatccagaggctcggtggat	13	8	1	2	rs143448690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116101463C>T	ENST00000410059.1	+	3	726	c.246C>T	c.(244-246)caC>caT	p.H82H	DPP10_ENST00000393147.2_Silent_p.H86H|DPP10_ENST00000409163.1_Silent_p.H32H|DPP10_ENST00000310323.8_Silent_p.H75H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	82					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTGTGCTTCACGATCCAGAGG	0.333													False	0	False	2:116101463	0	T	116101463	C	T	116101463	2	4	88	1	0	0	0	0	0	0	0	1	4757	535	19	1		1	DPP10	2	116101463	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39	116101463	127097910	2690	10402											
DPP10	57628	broad.mit.edu	37	chr2	116283483	116283483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttttctaggtaaccttcAaagcatcaagacattcagtt	5	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116283483A>G	ENST00000410059.1	+	5	856	c.376A>G	c.(376-378)Aaa>Gaa	p.K126E	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.K130E|DPP10_ENST00000409163.1_Missense_Mutation_p.K76E|DPP10_ENST00000310323.8_Missense_Mutation_p.K119E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	126					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGTAACCTTCAAAGCATCAAG	0.279													False	0	True	2:116283483	0	G	116283483	A	G	116283483	3	3	88	1	0	0	0	0	1	0	0	0	4757	131	5	4	565	4	DPP10	2	116283483	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	182020	116283483	126915890	2691	10403											
DPP10	57628	broad.mit.edu	37	chr2	116520160	116520160	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcagaaatatgagatgAcatcagatacgtggctctct	9	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116520160A>G	ENST00000410059.1	+	12	1567	c.1087A>G	c.(1087-1089)Aca>Gca	p.T363A	DPP10_ENST00000393147.2_Missense_Mutation_p.T367A|DPP10_ENST00000409163.1_Missense_Mutation_p.T313A|DPP10_ENST00000310323.8_Missense_Mutation_p.T356A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	363					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATATGAGATGACATCAGATAC	0.353													False	0	False	2:116520160	0	G	116520160	A	G	116520160	3	3	88	1	0	0	0	0	1	0	0	0	4757	275	10	4	1304	4	DPP10	2	116520160	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	236677	116520160	126679213	2692	10404											
DDX18	8886	broad.mit.edu	37	chr2	118582670	118582670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgatttgcccgtcttggCcattcatgtaagtgatgatg	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118582670C>T	ENST00000263239.2	+	9	1489	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	454	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCCGTCTTGGCCATTCATGTA	0.388													False	0	False	2:118582670	0	T	118582670	C	T	118582670	3	4	88	1	0	0	0	0	1	0	0	0	4370	739	26	2	1395	2	DDX18	2	118582670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2062510	118582670	124616703	2693	10405											
DDX18	8886	broad.mit.edu	37	chr2	118583136	118583136	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggactagacattcctgaagtCgactggattgttcagtatga	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118583136C>T	ENST00000263239.2	+	10	1610	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	494	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCCTGAAGTCGACTGGATTG	0.438													False	0	False	2:118583136	0	T	118583136	C	T	118583136	2	4	88	1	0	0	0	0	0	0	0	1	4370	871	31	1		1	DDX18	2	118583136	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	466	118583136	124616237	2694	10406											
CCDC93	54520	broad.mit.edu	37	chr2	118758448	118758448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcccctggatctggtggggCtccagctggtgtgggcattt	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118758448C>A	ENST00000376300.2	-	4	449	c.312G>T	c.(310-312)gaG>gaT	p.E104D	AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.E104D	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	104										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TCTGGTGGGGCTCCAGCTGGT	0.453													False	0	True	2:118758448	0	A	118758448	C	A	118758448	3	1	88	1	0	0	0	0	1	0	0	0	2893	796	28	3	1667	3	CCDC93	2	118758448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175312	118758448	124440925	2695	10407											
MARCO	8685	broad.mit.edu	37	chr2	119699912	119699912	+	Translation_Start_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attctcaaggaggacgagctCttgagtgagacccaacaagc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119699912C>A	ENST00000541757.1	+	0	49				MARCO_ENST00000327097.4_Silent_p.L12L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure						cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.L12L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGACGAGCTCTTGAGTGAGA	0.438													False	0	False	2:119699912	0	A	119699912	C	A	119699912	1	1	88	1	0	0	0	0	0	0	0	0	9378	900	32	3		3	MARCO	2	119699912	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	941464	119699912	123499461	2696	10408											
MARCO	8685	broad.mit.edu	37	chr2	119727762	119727762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactctggcggctgaggacaGcccgtccttctccttgctgc	11	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119727762G>T	ENST00000541757.1	+	4	418	c.38G>T	c.(37-39)aGc>aTc	p.S13I	MARCO_ENST00000327097.4_Missense_Mutation_p.S91I			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	91				L -> F (in Ref. 2; AAD41064).	cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCTGAGGACAGCCCGTCCTTC	0.607													False	0	True	2:119727762	0	T	119727762	G	T	119727762	3	4	88	1	0	0	0	0	1	0	0	0	9378	971	34	3	282	3	MARCO	2	119727762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27850	119727762	123471611	2697	10409											
C1QL2	165257	broad.mit.edu	37	chr2	119914429	119914429	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgtacttgttattattGcctccgtgagccttcccgcc	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119914429G>A	ENST00000272520.3	-	2	1432	c.813C>T	c.(811-813)ggC>ggT	p.G271G		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	271	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TGTTATTATTGCCTCCGTGAG	0.612										HNSCC(49;0.14)			False	0	False	2:119914429	0	A	119914429	G	A	119914429	2	1	88	1	0	0	0	0	0	0	0	1	1974	1306	46	2		2	C1QL2	2	119914429	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186667	119914429	123284944	2698	10410											
STEAP3	55240	broad.mit.edu	37	chr2	119988594	119988594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacgtcagccggatgtcGcaccagcctgctgttggtaa	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119988594G>A	ENST00000393110.2	+	2	457	c.6G>A	c.(4-6)tcG>tcA	p.S2S	STEAP3_ENST00000393108.2_Intron|STEAP3_ENST00000393106.2_Intron|STEAP3_ENST00000393107.2_Intron|STEAP3_ENST00000409811.1_Intron|STEAP3_ENST00000354888.5_5'UTR|STEAP3_ENST00000450943.2_5'UTR			Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	0					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCCGGATGTCGCACCAGCCTG	0.627													False	0	False	2:119988594	0	A	119988594	G	A	119988594	2	1	88	1	0	0	0	0	0	0	0	1	15361	1074	38	1		1	STEAP3	2	119988594	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74165	119988594	123210779	2699	10411											
STEAP3	55240	broad.mit.edu	37	chr2	120003362	120003362	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgttccgggagcactactCttcactgtgcagtctcagtg	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120003362C>T	ENST00000354888.5	+	3	794	c.290C>T	c.(289-291)tCt>tTt	p.S97F	STEAP3_ENST00000393108.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393106.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393107.2_Missense_Mutation_p.S97F|STEAP3_ENST00000409811.1_Missense_Mutation_p.S97F|STEAP3_ENST00000425223.2_Missense_Mutation_p.S97F|STEAP3_ENST00000393110.2_Missense_Mutation_p.S107F|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.S97F	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	97					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GAGCACTACTCTTCACTGTGC	0.572													False	0	False	2:120003362	0	T	120003362	C	T	120003362	3	4	88	1	0	0	0	0	1	0	0	0	15361	913	32	2	326	2	STEAP3	2	120003362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14768	120003362	123196011	2700	10412											
STEAP3	55240	broad.mit.edu	37	chr2	120005630	120005630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcggcaccaagtaccagCgcttccccgactggctggac	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120005630C>T	ENST00000354888.5	+	4	1372	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	STEAP3_ENST00000393108.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R290C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R290C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R290C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R300C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.R290C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	290	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CAAGTACCAGCGCTTCCCCGA	0.667													False	0	False	2:120005630	0	T	120005630	C	T	120005630	3	4	88	1	0	0	0	0	1	0	0	0	15361	768	27	1	908	1	STEAP3	2	120005630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2268	120005630	123193743	2701	10413											
PCDP1	0	broad.mit.edu	37	chr2	120362359	120362359	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagcgaagccgaagcctcaGaaggtgaaggtacggtgggc	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120362359G>T	ENST00000602047.1	+	10	1157	c.45G>T	c.(43-45)caG>caT	p.Q15H	PCDP1_ENST00000413369.3_Missense_Mutation_p.Q301H|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		301						cilium	calmodulin binding					Colorectal(110;0.196)					CGAAGCCTCAGAAGGTGAAGG	0.453													False	0	False	2:120362359	0	T	120362359	G	T	120362359	3	4	88	1	0	0	0	0	1	0	0	0	11640	933	33	3	47	3	PCDP1	2	120362359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	356729	120362359	122837014	2702	10414											
PCDP1	0	broad.mit.edu	37	chr2	120397378	120397378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattattcccggaataatgCactggaaaagcttccagtcc	7	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120397378C>T	ENST00000602047.1	+	22	2409	c.1297C>T	c.(1297-1299)Cac>Tac	p.H433Y	PCDP1_ENST00000413369.3_Missense_Mutation_p.H719Y			Q4G0U5	PCDP1_HUMAN		719						cilium	calmodulin binding					Colorectal(110;0.196)					CGGAATAATGCACTGGAAAAG	0.468													False	0	False	2:120397378	0	T	120397378	C	T	120397378	3	4	88	1	0	0	0	0	1	0	0	0	11640	710	25	2	1347	2	PCDP1	2	120397378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35019	120397378	122801995	2703	10415											
TMEM177	80775	broad.mit.edu	37	chr2	120439135	120439135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctggaccgccgcacgGcctccctctctgcagcctat	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120439135G>A	ENST00000424086.1	+	2	1179	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.A236T|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.A236T	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	236						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CCGCCGCACGGCCTCCCTCTC	0.617													False	0	True	2:120439135	0	A	120439135	G	A	120439135	3	1	88	1	0	0	0	0	1	0	0	0	16176	1203	42	2	708	2	TMEM177	2	120439135	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41757	120439135	122760238	2704	10416											
PTPN4	5775	broad.mit.edu	37	chr2	120692377	120692377	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttctccctctttatttagtCgaaattctacattcacgcag	4	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692377C>T	ENST00000263708.2	+	15	1969	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	PTPN4_ENST00000544261.1_Splice_Site_p.R33*	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	400						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTTATTTAGTCGAAATTCTAC	0.368													False	0	False	2:120692377	0	T	120692377	C	T	120692377	5	4	88	1	0	0	0	0	0	0	1	0	12869	898	31	1	1252	1	PTPN4	2	120692377	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253242	120692377	122506996	2705	10417											
PTPN4	5775	broad.mit.edu	37	chr2	120692461	120692461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatatggttcatacttccCcaagcgaagtgtttgtaaat	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692461C>T	ENST00000263708.2	+	15	2053	c.1282C>T	c.(1282-1284)Cca>Tca	p.P428S	PTPN4_ENST00000544261.1_Missense_Mutation_p.P61S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	428						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TCATACTTCCCCAAGCGAAGT	0.413													False	0	True	2:120692461	0	T	120692461	C	T	120692461	3	4	88	1	0	0	0	0	1	0	0	0	12869	623	22	2	1336	2	PTPN4	2	120692461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84	120692461	122506912	2706	10418											
PTPN4	5775	broad.mit.edu	37	chr2	120718447	120718447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaagggccattaccacacaCttgtacagatttttggcaga	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120718447C>A	ENST00000263708.2	+	23	2969	c.2198C>A	c.(2197-2199)aCt>aAt	p.T733N	PTPN4_ENST00000544261.1_Missense_Mutation_p.T366N	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	733	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTACCACACACTTGTACAGAT	0.388													False	0	True	2:120718447	0	A	120718447	C	A	120718447	3	1	88	1	0	0	0	0	1	0	0	0	12869	565	20	3	2284	3	PTPN4	2	120718447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25986	120718447	122480926	2707	10419											
EPB41L5	57669	broad.mit.edu	37	chr2	120903862	120903862	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaggatgctgccacaaAcaggtacagttctgggtaga	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120903862A>G	ENST00000263713.5	+	20	2004	c.1790A>G	c.(1789-1791)aAc>aGc	p.N597S	EPB41L5_ENST00000452780.1_Missense_Mutation_p.N597S|EPB41L5_ENST00000443902.2_Missense_Mutation_p.N597S	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	597						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GCTGCCACAAACAGGTACAGT	0.318													False	0	True	2:120903862	0	G	120903862	A	G	120903862	3	3	88	1	0	0	0	0	1	0	0	0	5189	43	2	4	2049	4	EPB41L5	2	120903862	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	185415	120903862	122295511	2708	10420											
RALB	5899	broad.mit.edu	37	chr2	121047235	121047235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagtctgacctagaggagCggaggcaggtgcctgtggag	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121047235C>T	ENST00000272519.5	+	4	673	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Missense_Mutation_p.R135W|RALB_ENST00000474855.2_Missense_Mutation_p.R157W|RALB_ENST00000404963.3_Missense_Mutation_p.R156W	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	135					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CCTAGAGGAGCGGAGGCAGGT	0.547													False	0	False	2:121047235	0	T	121047235	C	T	121047235	3	4	88	1	0	0	0	0	1	0	0	0	13090	759	27	1	413	1	RALB	2	121047235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143373	121047235	122152138	2709	10421											
GLI2	2736	broad.mit.edu	37	chr2	121742107	121742107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagaccccagctctctcCggaagcatgtgaaaacggtc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121742107C>T	ENST00000452319.1	+	12	1804	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	GLI2_ENST00000314490.11_Missense_Mutation_p.R254W|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R582W			P10070	GLI2_HUMAN	GLI family zinc finger 2	582					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGCTCTCTCCGGAAGCATGT	0.577													False	0	True	2:121742107	0	T	121742107	C	T	121742107	3	4	88	1	0	0	0	0	1	0	0	0	6483	643	23	1	1786	1	GLI2	2	121742107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	694872	121742107	121457266	2710	10422											
GLI2	2736	broad.mit.edu	37	chr2	121743937	121743937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccaacaatgacagtggCgtggagatgccggggacggg	17	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121743937C>T	ENST00000452319.1	+	13	2100	c.2040C>T	c.(2038-2040)ggC>ggT	p.G680G	GLI2_ENST00000314490.11_Silent_p.G352G|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.G680G			P10070	GLI2_HUMAN	GLI family zinc finger 2	680					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ATGACAGTGGCGTGGAGATGC	0.711													False	0	False	2:121743937	0	T	121743937	C	T	121743937	2	4	88	1	0	0	0	0	0	0	0	1	6483	755	27	1		1	GLI2	2	121743937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1830	121743937	121455436	2711	10423											
GLI2	2736	broad.mit.edu	37	chr2	121744055	121744055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctggtggcctccagctgCgcaaacacatgaccaccatg	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121744055C>T	ENST00000452319.1	+	13	2218	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	GLI2_ENST00000314490.11_Missense_Mutation_p.R392C|GLI2_ENST00000361492.4_Missense_Mutation_p.R720C			P10070	GLI2_HUMAN	GLI family zinc finger 2	720					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCAGCTGCGCAAACACAT	0.657													False	0	False	2:121744055	0	T	121744055	C	T	121744055	3	4	88	1	0	0	0	0	1	0	0	0	6483	768	27	1	2204	1	GLI2	2	121744055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	121744055	121455318	2712	10424											
TFCP2L1	29842	broad.mit.edu	37	chr2	122005784	122005784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcagggtcccacaaaaactCgactgcattcagctgggtcg	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122005784C>T	ENST00000263707.5	-	5	557	c.460G>A	c.(460-462)Gag>Aag	p.E154K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	154					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CACAAAAACTCGACTGCATTC	0.547													False	0	False	2:122005784	0	T	122005784	C	T	122005784	3	4	88	1	0	0	0	0	1	0	0	0	15878	893	31	1	1023	1	TFCP2L1	2	122005784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261729	122005784	121193589	2713	10425											
CLASP1	23332	broad.mit.edu	37	chr2	122220119	122220119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcactgacctgtactacagGtacatcatcaaatgctttaa	5	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122220119G>A	ENST00000263710.4	-	10	1317	c.928C>T	c.(928-930)Cct>Tct	p.P310S	CLASP1_ENST00000541377.1_Missense_Mutation_p.P310S|CLASP1_ENST00000545861.1_Missense_Mutation_p.P78S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P310S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P310S|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000541859.1_Missense_Mutation_p.P79S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P310S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	310					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGTACTACAGGTACATCATCA	0.313													False	0	False	2:122220119	0	A	122220119	G	A	122220119	3	1	88	1	0	0	0	0	1	0	0	0	3477	1261	44	2	3864	2	CLASP1	2	122220119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214335	122220119	120979254	2714	10426											
MKI67IP	0	broad.mit.edu	37	chr2	122489716	122489716	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtagttgttcattgtttcaGcaactattttggcaacatcc	8	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122489716G>T	ENST00000285814.4	-	3	380	c.308C>A	c.(307-309)gCt>gAt	p.A103D		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		103	RRM.				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CATTGTTTCAGCAACTATTTT	0.463													False	0	False	2:122489716	0	T	122489716	G	T	122489716	3	4	88	1	0	0	0	0	1	0	0	0	9666	971	34	3	593	3	MKI67IP	2	122489716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269597	122489716	120709657	2715	10427											
TSN	7247	broad.mit.edu	37	chr2	122522723	122522723	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtacagtcgaggctgtctgTcaacagcgtgactgctggag	15	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122522723T>C	ENST00000389682.3	+	6	714	c.467T>C	c.(466-468)gTc>gCc	p.V156A	TSN_ENST00000536142.1_Silent_p.C129C|TSN_ENST00000498545.1_3'UTR|TSN_ENST00000409193.1_Missense_Mutation_p.V151A	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	156					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				AGGCTGTCTGTCAACAGCGTG	0.512													False	0	True	2:122522723	0	C	122522723	T	C	122522723	3	2	88	1	0	0	0	0	1	0	0	0	16712	1667	58	4	489	4	TSN	2	122522723	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33007	122522723	120676650	2716	10428											
CNTNAP5	129684	broad.mit.edu	37	chr2	124783243	124783243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaatggattctttaccaCggctgaccagcgttttgact	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:124783243C>T	ENST00000431078.1	+	1	380	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	6					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTCTTTACCACGGCTGACCAG	0.552													False	0	False	2:124783243	0	T	124783243	C	T	124783243	3	4	88	1	0	0	0	0	1	0	0	0	3673	527	19	1	18	1	CNTNAP5	2	124783243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2260520	124783243	118416130	2717	10429											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521605	125521605	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagcctcttacctccactTtcctaccttccatgcggaat	5	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125521605T>G	ENST00000431078.1	+	16	2775	c.2411T>G	c.(2410-2412)tTt>tGt	p.F804C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	804	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACCTCCACTTTCCTACCTTC	0.413													False	0	True	2:125521605	0	G	125521605	T	G	125521605	3	3	88	1	0	0	0	0	1	0	0	0	3673	1841	64	4	2473	4	CNTNAP5	2	125521605	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	738362	125521605	117677768	2718	10430											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530375	125530375	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttcctttccggtttcaGctccttcagagatcaccttt	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125530375G>A	ENST00000431078.1	+	17	2894		c.e17-1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCGGTTTCAGCTCCTTCAGA	0.458													False	0	False	2:125530375	0	A	125530375	G	A	125530375	5	1	88	1	0	0	0	0	0	0	1	0	3673	985	34	2	2596	2	CNTNAP5	2	125530375	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8770	125530375	117668998	2719	10431											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530402	125530402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagatcacctttgccatcGatgttgggaatggtcctgtg	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125530402G>A	ENST00000431078.1	+	17	2921	c.2557G>A	c.(2557-2559)Gat>Aat	p.D853N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	853	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTTGCCATCGATGTTGGGAA	0.502													False	0	False	2:125530402	0	A	125530402	G	A	125530402	3	1	88	1	0	0	0	0	1	0	0	0	3673	1058	37	1	2623	1	CNTNAP5	2	125530402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	125530402	117668971	2720	10432											
CNTNAP5	129684	broad.mit.edu	37	chr2	125555694	125555694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtttctgctgtttttgaggCtggcacgtcggttacttaca	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125555694C>A	ENST00000431078.1	+	19	3375	c.3011C>A	c.(3010-3012)gCt>gAt	p.A1004D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1004					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTTTTGAGGCTGGCACGTCG	0.428													False	0	False	2:125555694	0	A	125555694	C	A	125555694	3	1	88	1	0	0	0	0	1	0	0	0	3673	797	28	3	3085	3	CNTNAP5	2	125555694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25292	125555694	117643679	2721	10433											
CYP27C1	339761	broad.mit.edu	37	chr2	127958808	127958808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatggaggtcttgaacatgCtaaacatgagctccagggcc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:127958808C>T	ENST00000335247.7	-	3	408	c.278G>A	c.(277-279)aGc>aAc	p.S93N	CYP27C1_ENST00000409327.1_Missense_Mutation_p.S93N	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	93						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CTTGAACATGCTAAACATGAG	0.562													False	0	False	2:127958808	0	T	127958808	C	T	127958808	3	4	88	1	0	0	0	0	1	0	0	0	4185	797	28	2	864	2	CYP27C1	2	127958808	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2403114	127958808	115240565	2722	10434											
ERCC3	2071	broad.mit.edu	37	chr2	128050320	128050320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttagtttgtactcatgcaCatgggttggtcggcacactg	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128050320C>T	ENST00000493187.2	-	3	608	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	ERCC3_ENST00000285398.2_Missense_Mutation_p.V113M			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	113					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TACTCATGCACATGGGTTGGT	0.507			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	2:128050320	0	T	128050320	C	T	128050320	3	4	88	1	0	0	0	0	1	0	0	0	5246	478	17	2	2063	2	ERCC3	2	128050320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91512	128050320	115149053	2723	10435											
MAP3K2	10746	broad.mit.edu	37	chr2	128065219	128065219	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctcagtttggcctctAcaaaaatccgtttgaggaaa	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128065219A>G	ENST00000409947.1	-	17	2078	c.1796T>C	c.(1795-1797)gTa>gCa	p.V599A	MAP3K2_ENST00000344908.5_Missense_Mutation_p.V599A			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	599	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TTTGGCCTCTACAAAAATCCG	0.473													False	0	False	2:128065219	0	G	128065219	A	G	128065219	3	3	88	1	0	0	0	0	1	0	0	0	9317	391	14	4	67	4	MAP3K2	2	128065219	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14899	128065219	115134154	2724	10436											
MAP3K2	10746	broad.mit.edu	37	chr2	128088062	128088062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtccaagtcatcttgaGtagttaatggaattaccaac	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128088062G>A	ENST00000409947.1	-	6	566	c.284C>T	c.(283-285)aCt>aTt	p.T95I	MAP3K2_ENST00000344908.5_Missense_Mutation_p.T95I			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	95	OPR.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		GTCATCTTGAGTAGTTAATGG	0.383													False	0	False	2:128088062	0	A	128088062	G	A	128088062	3	1	88	1	0	0	0	0	1	0	0	0	9317	1029	36	2	1623	2	MAP3K2	2	128088062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22843	128088062	115111311	2725	10437											
PROC	5624	broad.mit.edu	37	chr2	128186478	128186478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcgactggatccatgggCacatcagagacaaggaagcc	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128186478C>T	ENST00000453608.2	+	8	1515	c.1507C>T	c.(1507-1509)Cac>Tac	p.H503Y	PROC_ENST00000234071.3_Missense_Mutation_p.H448Y|PROC_ENST00000422777.3_Missense_Mutation_p.H448Y|PROC_ENST00000409048.1_Missense_Mutation_p.H482Y			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	448					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GATCCATGGGCACATCAGAGA	0.592													False	0	True	2:128186478	0	T	128186478	C	T	128186478	3	4	88	1	0	0	0	0	1	0	0	0	12621	710	25	2	1372	2	PROC	2	128186478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98416	128186478	115012895	2726	10438											
IWS1	55677	broad.mit.edu	37	chr2	128252466	128252466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcttaaggtgcataactAcagcaggcagtaaagttaat	8	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128252466A>G	ENST00000295321.4	-	8	2040	c.1781T>C	c.(1780-1782)gTa>gCa	p.V594A	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	594					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTGCATAACTACAGCAGGCAG	0.284													False	0	False	2:128252466	0	G	128252466	A	G	128252466	3	3	88	1	0	0	0	0	1	0	0	0	7981	391	14	4	706	4	IWS1	2	128252466	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65988	128252466	114946907	2727	10439											
IWS1	55677	broad.mit.edu	37	chr2	128261063	128261063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcctcactgtcagatgCtatggtcttctctcttttgc	6	12	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128261063C>A	ENST00000295321.4	-	4	1568	c.1309G>T	c.(1309-1311)Gca>Tca	p.A437S	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.A444S	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	437	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTGTCAGATGCTATGGTCTTC	0.428													False	0	False	2:128261063	0	A	128261063	C	A	128261063	3	1	88	1	0	0	0	0	1	0	0	0	7981	797	28	3	1194	3	IWS1	2	128261063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8597	128261063	114938310	2728	10440											
MYO7B	4648	broad.mit.edu	37	chr2	128366289	128366289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggggtatgcaggcgccgCtggtcatcccggccgagggg	18	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128366289C>T	ENST00000389524.4	+	22	2703	c.2650C>T	c.(2650-2652)Ctg>Ttg	p.L884L	MYO7B_ENST00000409816.2_Silent_p.L884L|MYO7B_ENST00000428314.1_Silent_p.L884L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	884	IQ 6.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCAGGCGCCGCTGGTCATCCC	0.657													False	0	False	2:128366289	0	T	128366289	C	T	128366289	2	4	88	1	0	0	0	0	0	0	0	1	10150	796	28	2		2	MYO7B	2	128366289	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105226	128366289	114833084	2729	10441											
MYO7B	4648	broad.mit.edu	37	chr2	128380907	128380907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctcacaagcagggcctcaGcgaccacctgggcttctccc	10	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128380907G>T	ENST00000389524.4	+	28	3751	c.3698G>T	c.(3697-3699)aGc>aTc	p.S1233I	MYO7B_ENST00000409090.1_Missense_Mutation_p.S86I|MYO7B_ENST00000409816.2_Missense_Mutation_p.S1233I|MYO7B_ENST00000428314.1_Missense_Mutation_p.S1233I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1233	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGGGCCTCAGCGACCACCTG	0.627													False	0	False	2:128380907	0	T	128380907	G	T	128380907	3	4	88	1	0	0	0	0	1	0	0	0	10150	971	34	3	3804	3	MYO7B	2	128380907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14618	128380907	114818466	2730	10442											
MYO7B	4648	broad.mit.edu	37	chr2	128389839	128389839	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcacagcgaagagcggggCtggcagctgctgtggctgtg	19	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128389839C>A	ENST00000389524.4	+	38	5246	c.5193C>A	c.(5191-5193)ggC>ggA	p.G1731G	MYO7B_ENST00000409090.1_Silent_p.G583G|MYO7B_ENST00000409816.2_Silent_p.G1730G|MYO7B_ENST00000428314.1_Silent_p.G1730G			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1730	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAGAGCGGGGCTGGCAGCTGC	0.672													False	0	True	2:128389839	0	A	128389839	C	A	128389839	2	1	88	1	0	0	0	0	0	0	0	1	10150	784	28	3		3	MYO7B	2	128389839	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8932	128389839	114809534	2731	10443											
GPR17	0	broad.mit.edu	37	chr2	128408687	128408687	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttcctcacctgcatcagCgccgaccgtttcctggccat	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128408687C>T	ENST00000544369.1	+	4	1073	c.462C>T	c.(460-462)agC>agT	p.S154S	LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Silent_p.S154S|GPR17_ENST00000272644.3_Silent_p.S154S|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409808.2_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	154						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCTGCATCAGCGCCGACCGTT	0.607													False	0	False	2:128408687	0	T	128408687	C	T	128408687	2	4	88	1	0	0	0	0	0	0	0	1	6713	767	27	1		1	GPR17	2	128408687	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18848	128408687	114790686	2732	10444											
LIMS2	55679	broad.mit.edu	37	chr2	128412001	128412001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacacggccacctcacctgCcggcattcttcacaaagccc	6	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128412001C>T	ENST00000409455.1	-	4	976	c.341G>A	c.(340-342)gGc>gAc	p.G114D	LIMS2_ENST00000545738.2_Missense_Mutation_p.G141D|LIMS2_ENST00000324938.5_Missense_Mutation_p.G143D|LIMS2_ENST00000355119.4_Missense_Mutation_p.G119D|LIMS2_ENST00000410011.1_Missense_Mutation_p.G114D|LIMS2_ENST00000409808.2_Missense_Mutation_p.G114D			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	119	LIM zinc-binding 2.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		ACCTCACCTGCCGGCATTCTT	0.632													False	0	False	2:128412001	0	T	128412001	C	T	128412001	3	4	88	1	0	0	0	0	1	0	0	0	8856	739	26	2	697	2	LIMS2	2	128412001	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3314	128412001	114787372	2733	10445											
WDR33	55339	broad.mit.edu	37	chr2	128471362	128471362	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcggtaaaggtcctcctcGcccctcaaattcacgtaacc	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128471362G>A	ENST00000322313.4	-	18	3261	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1035					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCCTCCTCGCCCCTCAAAT	0.617													False	0	True	2:128471362	0	A	128471362	G	A	128471362	4	1	88	1	0	0	0	0	0	1	0	0	17371	1095	38	1	927	1	WDR33	2	128471362	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59361	128471362	114728011	2734	10446											
WDR33	55339	broad.mit.edu	37	chr2	128495607	128495607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagaaaggaagtaacaaCggcagtgatgaaaacatgta	11	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128495607C>T	ENST00000393006.1	-	8	928	c.746G>A	c.(745-747)cGt>cAt	p.R249H	WDR33_ENST00000322313.4_Intron	NM_001006623.2	NP_001006624.1	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	0					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAAGTAACAACGGCAGTGATG	0.418													False	0	False	2:128495607	0	T	128495607	C	T	128495607	3	4	88	1	0	0	0	0	1	0	0	0	17371	536	19	1	3378	1	WDR33	2	128495607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24245	128495607	114703766	2735	10447											
WDR33	55339	broad.mit.edu	37	chr2	128528546	128528546	+	Nonsense_Mutation	SNP	C	C	A													acgaggaggagaaccaatttCtgtagccatggtgatgtttt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128528546C>A	ENST00000322313.4	-	2	168	c.10G>T	c.(10-12)Gaa>Taa	p.E4*	WDR33_ENST00000409658.3_Nonsense_Mutation_p.E4*|WDR33_ENST00000393006.1_Nonsense_Mutation_p.E4*	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	4					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAACCAATTTCTGTAGCCATG	0.418													False	0	True	2:128528546	0	A	128528546	C	A	128528546	4	1	88	1	0	0	0	0	0	1	0	0	17371	922	32	3	4493	3	WDR33	2	128528546	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32939	128528546	114670827	2736	10448	155	2									
WDR33	55339	broad.mit.edu	37	chr2	128528552	128528552	+	Missense_Mutation	SNP	C	C	T													aggagaaccaatttctgtagCcatggtgatgttttccttct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128528552C>T	ENST00000322313.4	-	2	162	c.4G>A	c.(4-6)Gct>Act	p.A2T	WDR33_ENST00000409658.3_Missense_Mutation_p.A2T|WDR33_ENST00000393006.1_Missense_Mutation_p.A2T	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	2					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATTTCTGTAGCCATGGTGATG	0.408													False	0	False	2:128528552	0	T	128528552	C	T	128528552	3	4	88	1	0	0	0	0	1	0	0	0	17371	739	26	2	4499	2	WDR33	2	128528552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	128528552	114670821	2737	10449	155	2									
AMMECR1L	83607	broad.mit.edu	37	chr2	128622692	128622692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtaatgattgtagaggggCggggcatgaagagtgccgtt	18	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128622692C>T	ENST00000272647.5	-	8	1169	c.909G>A	c.(907-909)ccG>ccA	p.P303P	AMMECR1L_ENST00000393001.1_Silent_p.P303P	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	303										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		TGTAGAGGGGCGGGGCATGAA	0.532													False	0	True	2:128622692	0	T	128622692	C	T	128622692	2	4	88	1	0	0	0	0	0	0	0	1	579	755	27	1		1	AMMECR1L	2	128622692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94140	128622692	114576681	2738	10450											
AMMECR1L	83607	broad.mit.edu	37	chr2	128627035	128627035	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatccaactcaccttgttcCttagcaacctcaggtaaata	4	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128627035C>A	ENST00000272647.5	-	6	977	c.717G>T	c.(715-717)aaG>aaT	p.K239N	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.K239N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	239	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CACCTTGTTCCTTAGCAACCT	0.408													False	0	False	2:128627035	0	A	128627035	C	A	128627035	3	1	88	1	0	0	0	0	1	0	0	0	579	680	24	3	227	3	AMMECR1L	2	128627035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4343	128627035	114572338	2739	10451											
AMMECR1L	83607	broad.mit.edu	37	chr2	128628468	128628468	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtttaggcagctcctctcGggtcagggggggaaatcggc	16	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128628468G>T	ENST00000272647.5	-	5	813	c.553C>A	c.(553-555)Cga>Aga	p.R185R	AMMECR1L_ENST00000393001.1_Silent_p.R185R	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	185	AMMECR1.							p.R185*(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AGCTCCTCTCGGGTCAGGGGG	0.532													False	0	True	2:128628468	0	T	128628468	G	T	128628468	2	4	88	1	0	0	0	0	0	0	0	1	579	1124	39	3		3	AMMECR1L	2	128628468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1433	128628468	114570905	2740	10452											
SAP130	79595	broad.mit.edu	37	chr2	128699597	128699597	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctagactttttcctttcGcttcaatttggacacttttt	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128699597G>A	ENST00000357702.5	-	21	3366	c.3235C>T	c.(3235-3237)Cga>Tga	p.R1079*	SAP130_ENST00000259235.3_Nonsense_Mutation_p.R1044*|SAP130_ENST00000259234.6_Nonsense_Mutation_p.R1052*	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1044					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTTTCCTTTCGCTTCAATTTG	0.428													False	0	False	2:128699597	0	A	128699597	G	A	128699597	4	1	88	1	0	0	0	0	0	1	0	0	13910	1095	38	1	20	1	SAP130	2	128699597	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71129	128699597	114499776	2741	10453											
SAP130	79595	broad.mit.edu	37	chr2	128747250	128747250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgccaagtggtgcaggCtgtatccctggggtcccaat	14	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128747250C>T	ENST00000357702.5	-	13	1877	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	SAP130_ENST00000259235.3_Silent_p.Q582Q|SAP130_ENST00000259234.6_Silent_p.Q556Q	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	582					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTGGTGCAGGCTGTATCCCTG	0.577													False	0	False	2:128747250	0	T	128747250	C	T	128747250	2	4	88	1	0	0	0	0	0	0	0	1	13910	796	28	2		2	SAP130	2	128747250	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47653	128747250	114452123	2742	10454											
SAP130	79595	broad.mit.edu	37	chr2	128747261	128747261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcaggctgtatccctgGggtcccaatgggggccggct	17	11	0	0	rs111795237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128747261G>A	ENST00000357702.5	-	13	1866	c.1735C>T	c.(1735-1737)Cca>Tca	p.P579S	SAP130_ENST00000259235.3_Missense_Mutation_p.P579S|SAP130_ENST00000259234.6_Missense_Mutation_p.P553S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	579					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGTATCCCTGGGGTCCCAATG	0.572													False	0	True	2:128747261	0	A	128747261	G	A	128747261	3	1	88	1	0	0	0	0	1	0	0	0	13910	1232	43	2	1552	2	SAP130	2	128747261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	128747261	114452112	2743	10455											
UGGT1	56886	broad.mit.edu	37	chr2	128927887	128927887	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaactgaggccgaaggaaGgggagacatactttgatgtt	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128927887G>T	ENST00000375990.3	+	27	3278	c.2875G>T	c.(2875-2877)Ggg>Tgg	p.G959W	UGGT1_ENST00000259253.6_Missense_Mutation_p.G983W			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	983					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCCGAAGGAAGGGGAGACATA	0.443													False	0	True	2:128927887	0	T	128927887	G	T	128927887	3	4	88	1	0	0	0	0	1	0	0	0	17025	1000	35	3	3053	3	UGGT1	2	128927887	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180626	128927887	114271486	2744	10456											
HS6ST1	9394	broad.mit.edu	37	chr2	129026007	129026007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccacgccgcccgcccgcGtgctattgtactgcatgaag	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:129026007G>A	ENST00000259241.6	-	2	978	c.965C>T	c.(964-966)aCg>aTg	p.T322M		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	322					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCCCGCCCGCGTGCTATTGTA	0.602													False	0	True	2:129026007	0	A	129026007	G	A	129026007	3	1	88	1	0	0	0	0	1	0	0	0	7417	1145	40	1	274	1	HS6ST1	2	129026007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98120	129026007	114173366	2745	10457											
HS6ST1	9394	broad.mit.edu	37	chr2	129026052	129026052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgaacttgaggttgaacGtccgctcgaacaggtactgc	13	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:129026052G>A	ENST00000259241.6	-	2	933	c.920C>T	c.(919-921)aCg>aTg	p.T307M		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	307					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GAGGTTGAACGTCCGCTCGAA	0.627													False	0	False	2:129026052	0	A	129026052	G	A	129026052	3	1	88	1	0	0	0	0	1	0	0	0	7417	1145	40	1	319	1	HS6ST1	2	129026052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	129026052	114173321	2746	10458											
RAB6C	84084	broad.mit.edu	37	chr2	130738170	130738170	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactagggcaaaagctggatAcaatgtaaagcagctctttc	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130738170A>G	ENST00000410061.2	+	1	936	c.482A>G	c.(481-483)tAc>tGc	p.Y161C		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	161					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AAAGCTGGATACAATGTAAAG	0.468													False	0	False	2:130738170	0	G	130738170	A	G	130738170	3	3	88	1	0	0	0	0	1	0	0	0	13032	391	14	4	484	4	RAB6C	2	130738170	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1712118	130738170	112461203	2747	10459											
POTEF	728378	broad.mit.edu	37	chr2	130877873	130877873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcttgccactccccctGcagcaggggaagcagtggcg	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130877873G>A	ENST00000357462.5	-	1	309	c.216C>T	c.(214-216)tgC>tgT	p.C72C	POTEF_ENST00000361163.4_Silent_p.C72C|POTEF_ENST00000360967.5_Silent_p.C72C|POTEF_ENST00000409914.2_Silent_p.C72C			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	72						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CACTCCCCCTGCAGCAGGGGA	0.587													False	0	False	2:130877873	0	A	130877873	G	A	130877873	2	1	88	1	0	0	0	0	0	0	0	1	12334	1311	46	2		2	POTEF	2	130877873	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139703	130877873	112321500	2748	10460											
SMPD4	55627	broad.mit.edu	37	chr2	130925111	130925111	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgagagatgtgtcgctTtaggaggctagtgtggtgga	17	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130925111T>G	ENST00000409031.1	-	9	1977	c.829A>C	c.(829-831)Aag>Cag	p.K277Q	SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000452225.2_5'UTR|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000351288.6_Missense_Mutation_p.K277Q|SMPD4_ENST00000426662.2_5'UTR|SMPD4_ENST00000431183.2_Missense_Mutation_p.K204Q|SMPD4_ENST00000339679.7_Missense_Mutation_p.K164Q	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	238					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ATGTGTCGCTTTAGGAGGCTA	0.557													False	0	True	2:130925111	0	G	130925111	T	G	130925111	3	3	88	1	0	0	0	0	1	0	0	0	14887	1850	64	4	1819	4	SMPD4	2	130925111	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47238	130925111	112274262	2749	10461											
TUBA3E	112714	broad.mit.edu	37	chr2	130949639	130949639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcagcatgcacacggccCgctgcaccttggccaggtct	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130949639C>T	ENST00000312988.7	-	5	1218	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	373					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GCACACGGCCCGCTGCACCTT	0.607													False	0	True	2:130949639	0	T	130949639	C	T	130949639	3	4	88	1	0	0	0	0	1	0	0	0	16832	652	23	1	238	1	TUBA3E	2	130949639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24528	130949639	112249734	2750	10462											
TUBA3E	112714	broad.mit.edu	37	chr2	130951729	130951729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgatctgcccaatcaggCgattgaggttggtgtacgtg	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130951729C>T	ENST00000312988.7	-	4	786	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	229					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCCAATCAGGCGATTGAGGTT	0.537													False	0	False	2:130951729	0	T	130951729	C	T	130951729	3	4	88	1	0	0	0	0	1	0	0	0	16832	768	27	1	674	1	TUBA3E	2	130951729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2090	130951729	112247644	2751	10463											
TUBA3E	112714	broad.mit.edu	37	chr2	130951874	130951874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagttgtagggctccaccaCggctgtggagacctgggggg	19	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130951874C>T	ENST00000312988.7	-	4	641	c.541G>A	c.(541-543)Gtg>Atg	p.V181M		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	181					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GGCTCCACCACGGCTGTGGAG	0.537													False	0	False	2:130951874	0	T	130951874	C	T	130951874	3	4	88	1	0	0	0	0	1	0	0	0	16832	536	19	1	819	1	TUBA3E	2	130951874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	130951874	112247499	2752	10464											
CCDC115	84317	broad.mit.edu	37	chr2	131096740	131096740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttctcttggagtccccGgagctggcttcgaccccagt	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131096740G>A	ENST00000259229.2	-	5	719	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	CCDC115_ENST00000409127.1_Missense_Mutation_p.R161W|CCDC115_ENST00000437688.2_3'UTR	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	166						endosome|lysosome				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					TGGAGTCCCCGGAGCTGGCTT	0.612													False	0	True	2:131096740	0	A	131096740	G	A	131096740	3	1	88	1	0	0	0	0	1	0	0	0	2772	1115	39	1	50	1	CCDC115	2	131096740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144866	131096740	112102633	2753	10465											
GPR148	344561	broad.mit.edu	37	chr2	131486811	131486811	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaagacaccctgcatgccCcaagcagccagcaacacttc	7	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131486811C>A	ENST00000309926.4	+	1	169	c.87C>A	c.(85-87)ccC>ccA	p.P29P		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	29				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCTGCATGCCCCAAGCAGCCA	0.632													False	0	True	2:131486811	0	A	131486811	C	A	131486811	2	1	88	1	0	0	0	0	0	0	0	1	6699	610	22	3		3	GPR148	2	131486811	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	390071	131486811	111712562	2754	10466											
GPR148	344561	broad.mit.edu	37	chr2	131486869	131486869	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagggtgcccagctccatgCtgtactggcttttccttccc	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131486869C>A	ENST00000309926.4	+	1	227	c.145C>A	c.(145-147)Ctg>Atg	p.L49M		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	49				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CAGCTCCATGCTGTACTGGCT	0.637													False	0	False	2:131486869	0	A	131486869	C	A	131486869	3	1	88	1	0	0	0	0	1	0	0	0	6699	796	28	3	147	3	GPR148	2	131486869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58	131486869	111712504	2755	10467											
GPR148	344561	broad.mit.edu	37	chr2	131487621	131487621	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactctgggactcacacatgGctcctggcagctaacagtga	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131487621G>A	ENST00000309926.4	+	1	979	c.897G>A	c.(895-897)tgG>tgA	p.W299*		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	299						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTCACACATGGCTCCTGGCAG	0.572													False	0	False	2:131487621	0	A	131487621	G	A	131487621	4	1	88	1	0	0	0	0	0	1	0	0	6699	1212	42	2	899	2	GPR148	2	131487621	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	752	131487621	111711752	2756	10468											
ARHGEF4	50649	broad.mit.edu	37	chr2	131797660	131797660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcggagcggaggacggCggggcggaggcgcagagcag	22	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131797660C>T	ENST00000392953.3	+	7	1338	c.819C>T	c.(817-819)ggC>ggT	p.G273G	ARHGEF4_ENST00000355771.3_Silent_p.G202G|ARHGEF4_ENST00000409303.1_Silent_p.G273G|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Silent_p.G273G|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000525839.1_Silent_p.G273G	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	273					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CGGAGGACGGCGGGGCGGAGG	0.662													False	0	True	2:131797660	0	T	131797660	C	T	131797660	2	4	88	1	0	0	0	0	0	0	0	1	910	755	27	1		1	ARHGEF4	2	131797660	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	310039	131797660	111401713	2757	10469											
FAM168B	130074	broad.mit.edu	37	chr2	131813237	131813237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccgctggtgggggaacaGgacactttgtaaggtgtgcc	16	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131813237G>A	ENST00000409185.1	-	4	293	c.186C>T	c.(184-186)tcC>tcT	p.S62S	FAM168B_ENST00000389915.3_Silent_p.S62S	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	62										endometrium(3)|lung(2)	5						TGGGGGAACAGGACACTTTGT	0.622													False	0	False	2:131813237	0	A	131813237	G	A	131813237	2	1	88	1	0	0	0	0	0	0	0	1	5522	987	35	2		2	FAM168B	2	131813237	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15577	131813237	111386136	2758	10470											
POTEE	445582	broad.mit.edu	37	chr2	131976037	131976037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagccatttggtctcaGgagcaagatgggcaagtggt	15	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131976037G>T	ENST00000356920.5	+	1	156	c.62G>T	c.(61-63)aGg>aTg	p.R21M	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R21M	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	21							ATP binding										TTTGGTCTCAGGAGCAAGATG	0.552													False	0	False	2:131976037	0	T	131976037	G	T	131976037	3	4	88	1	0	0	0	0	1	0	0	0	12333	1000	35	3	64	3	POTEE	2	131976037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162800	131976037	111223336	2759	10471											
POTEE	445582	broad.mit.edu	37	chr2	131976082	131976082	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgttgcttcccctgctacaGggagagcggcaagagcaacg	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131976082G>T	ENST00000356920.5	+	1	201	c.107G>T	c.(106-108)aGg>aTg	p.R36M	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R36M	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	36							ATP binding										CCCTGCTACAGGGAGAGCGGC	0.567													False	0	True	2:131976082	0	T	131976082	G	T	131976082	3	4	88	1	0	0	0	0	1	0	0	0	12333	1000	35	3	109	3	POTEE	2	131976082	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	131976082	111223291	2760	10472											
POTEE	445582	broad.mit.edu	37	chr2	131984434	131984434	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacttggtgtacatgagcaAaaacagcaagtcgtgaaatt	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131984434A>C	ENST00000356920.5	+	4	943	c.849A>C	c.(847-849)caA>caC	p.Q283H	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.Q293H	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	283							ATP binding										TACATGAGCAAAAACAGCAAG	0.323													False	0	True	2:131984434	0	C	131984434	A	C	131984434	3	2	88	1	0	0	0	0	1	0	0	0	12333	11	1	4	863	4	POTEE	2	131984434	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8352	131984434	111214939	2761	10473											
TUBA3D	113457	broad.mit.edu	37	chr2	132237733	132237733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatctctgctcatggagcGgctctcagtggattacggca	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237733G>A	ENST00000321253.6	+	4	574	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	156					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCATGGAGCGGCTCTCAGTG	0.587													False	0	False	2:132237733	0	A	132237733	G	A	132237733	3	1	88	1	0	0	0	0	1	0	0	0	16831	1116	39	1	481	1	TUBA3D	2	132237733	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253299	132237733	110961640	2762	10474											
TUBA3D	113457	broad.mit.edu	37	chr2	132237807	132237807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccccaggtctccacagccGtggtggagccctacaactcc	9	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237807G>A	ENST00000321253.6	+	4	648	c.541G>A	c.(541-543)Gtg>Atg	p.V181M	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	181					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCCACAGCCGTGGTGGAGCC	0.547													False	0	False	2:132237807	0	A	132237807	G	A	132237807	3	1	88	1	0	0	0	0	1	0	0	0	16831	1145	40	1	555	1	TUBA3D	2	132237807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74	132237807	110961566	2763	10475											
TUBA3D	113457	broad.mit.edu	37	chr2	132237952	132237952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtacaccaacctcaatcGcctgattgggcagatcgtgt	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237952G>A	ENST00000321253.6	+	4	793	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	229					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		AACCTCAATCGCCTGATTGGG	0.527													False	0	False	2:132237952	0	A	132237952	G	A	132237952	3	1	88	1	0	0	0	0	1	0	0	0	16831	1087	38	1	700	1	TUBA3D	2	132237952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145	132237952	110961421	2764	10476											
CCDC74A	90557	broad.mit.edu	37	chr2	132287250	132287250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctcataatgaatcagaCatcacagaagaaaggtgaga	9	7	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132287250C>T	ENST00000295171.6	+	2	419	c.281C>T	c.(280-282)aCa>aTa	p.T94I	CCDC74A_ENST00000409856.3_Missense_Mutation_p.T94I|CCDC74A_ENST00000467992.2_5'UTR|CCDC74A_ENST00000478665.1_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	94										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATGAATCAGACATCACAGAAG	0.527													False	0	False	2:132287250	0	T	132287250	C	T	132287250	3	4	88	1	0	0	0	0	1	0	0	0	2868	478	17	2	287	2	CCDC74A	2	132287250	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49298	132287250	110912123	2765	10477											
CCDC74A	90557	broad.mit.edu	37	chr2	132289243	132289243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaactctcaaggcaaggCcaggccccagcccggctcct	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132289243C>T	ENST00000467992.2	+	2	1171	c.857C>T	c.(856-858)gCc>gTc	p.A286V	CCDC74A_ENST00000409856.3_Missense_Mutation_p.A118V|CCDC74A_ENST00000295171.6_Missense_Mutation_p.A184V			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	184										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAAGGCAAGGCCAGGCCCCAG	0.577													False	0	True	2:132289243	0	T	132289243	C	T	132289243	3	4	88	1	0	0	0	0	1	0	0	0	2868	739	26	2	565	2	CCDC74A	2	132289243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1993	132289243	110910130	2766	10478											
CCDC74A	90557	broad.mit.edu	37	chr2	132290261	132290261	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggggcacaccccccaatgatCctgccccttcccctgcgaaa	8	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132290261C>A	ENST00000295171.6	+	5	921	c.783C>A	c.(781-783)atC>atA	p.I261I	CCDC74A_ENST00000409856.3_Silent_p.I195I|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	261										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCAATGATCCTGCCCCTTC	0.617													False	0	False	2:132290261	0	A	132290261	C	A	132290261	2	1	88	1	0	0	0	0	0	0	0	1	2868	845	30	3		3	CCDC74A	2	132290261	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1018	132290261	110909112	2767	10479											
CCDC74A	90557	broad.mit.edu	37	chr2	132290277	132290277	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcctgccccttcccctgCgaaagcccaccacacttagg	7	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132290277C>T	ENST00000295171.6	+	5	937	c.799C>T	c.(799-801)Cga>Tga	p.R267*	CCDC74A_ENST00000409856.3_Nonsense_Mutation_p.R201*|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	267										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCTTCCCCTGCGAAAGCCCAC	0.642													False	0	False	2:132290277	0	T	132290277	C	T	132290277	4	4	88	1	0	0	0	0	0	1	0	0	2868	760	27	1	817	1	CCDC74A	2	132290277	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	132290277	110909096	2768	10480											
GPR39	2863	broad.mit.edu	37	chr2	133402688	133402688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccagggctgattgttgtgAcattggccgtatgctggatg	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402688A>G	ENST00000329321.3	+	2	1340	c.871A>G	c.(871-873)Aca>Gca	p.T291A	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	291						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GATTGTTGTGACATTGGCCGT	0.493													False	0	False	2:133402688	0	G	133402688	A	G	133402688	3	3	88	1	0	0	0	0	1	0	0	0	6739	275	10	4	877	4	GPR39	2	133402688	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1112411	133402688	109796685	2769	10481											
GPR39	2863	broad.mit.edu	37	chr2	133402959	133402959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgtacatgcgcactccaCcaccgacagcgcccgctttg	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402959C>T	ENST00000329321.3	+	2	1611	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	381						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCGCACTCCACCACCGACAGC	0.622													False	0	False	2:133402959	0	T	133402959	C	T	133402959	3	4	88	1	0	0	0	0	1	0	0	0	6739	507	18	2	1148	2	GPR39	2	133402959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271	133402959	109796414	2770	10482											
GPR39	2863	broad.mit.edu	37	chr2	133402986	133402986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgcccgctttgtgcagcGcccgttgctcttcgcgtccc	11	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402986G>A	ENST00000329321.3	+	2	1638	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	390			R -> C (in dbSNP:rs16838944).			integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTGTGCAGCGCCCGTTGCTC	0.627													False	0	True	2:133402986	0	A	133402986	G	A	133402986	3	1	88	1	0	0	0	0	1	0	0	0	6739	1087	38	1	1175	1	GPR39	2	133402986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	133402986	109796387	2771	10483											
LYPD1	116372	broad.mit.edu	37	chr2	133403818	133403818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaggcgatgagacaggCcgctgatgatgcacaggact	16	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133403818C>A	ENST00000397463.2	-	3	498	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000345008.6_Missense_Mutation_p.A24S|GPR39_ENST00000329321.3_3'UTR	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	76	UPAR/Ly6.					anchored to membrane|plasma membrane				lung(2)	2						ATGAGACAGGCCGCTGATGAT	0.552													False	0	False	2:133403818	0	A	133403818	C	A	133403818	3	1	88	1	0	0	0	0	1	0	0	0	9172	739	26	3	203	3	LYPD1	2	133403818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	832	133403818	109795555	2772	10484											
NCKAP5	344148	broad.mit.edu	37	chr2	133540013	133540013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcacagcatcagtcgcGgttgcagaggcatctggatg	13	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133540013G>A	ENST00000409261.1	-	14	4744	c.4371C>T	c.(4369-4371)acC>acT	p.T1457T	NCKAP5_ENST00000317721.6_Silent_p.T1457T|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1457							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CATCAGTCGCGGTTGCAGAGG	0.507													False	0	False	2:133540013	0	A	133540013	G	A	133540013	2	1	88	1	0	0	0	0	0	0	0	1	10291	1103	39	1		1	NCKAP5	2	133540013	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136195	133540013	109659360	2773	10485											
NCKAP5	344148	broad.mit.edu	37	chr2	133540637	133540637	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagggatcttctcatggaTctattatctaccccatccct	6	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133540637T>C	ENST00000409261.1	-	14	4120	c.3747A>G	c.(3745-3747)agA>agG	p.R1249R	NCKAP5_ENST00000317721.6_Silent_p.R1249R|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1249							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCTCATGGATCTATTATCTA	0.517													False	0	False	2:133540637	0	C	133540637	T	C	133540637	2	2	88	1	0	0	0	0	0	0	0	1	10291	1432	50	4		4	NCKAP5	2	133540637	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	624	133540637	109658736	2774	10486											
NCKAP5	344148	broad.mit.edu	37	chr2	133542171	133542171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaatgtttttctcagtgTcctcttcagaccttttaaag	7	8	3	1	rs146403790	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133542171T>C	ENST00000409261.1	-	14	2586	c.2213A>G	c.(2212-2214)gAc>gGc	p.D738G	NCKAP5_ENST00000317721.6_Missense_Mutation_p.D738G|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	738							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTCTCAGTGTCCTCTTCAGA	0.428													False	0	False	2:133542171	0	C	133542171	T	C	133542171	3	2	88	1	0	0	0	0	1	0	0	0	10291	1667	58	4	3544	4	NCKAP5	2	133542171	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1534	133542171	109657202	2775	10487											
NCKAP5	344148	broad.mit.edu	37	chr2	133543008	133543008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggggttccttgcaggggCtccccaggtcagctgttttg	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133543008C>T	ENST00000409261.1	-	14	1749	c.1376G>A	c.(1375-1377)aGc>aAc	p.S459N	NCKAP5_ENST00000317721.6_Missense_Mutation_p.S459N|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	459							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTTGCAGGGGCTCCCCAGGTC	0.468													False	0	True	2:133543008	0	T	133543008	C	T	133543008	3	4	88	1	0	0	0	0	1	0	0	0	10291	797	28	2	4381	2	NCKAP5	2	133543008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	837	133543008	109656365	2776	10488											
MGAT5	4249	broad.mit.edu	37	chr2	135028024	135028024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggcaagttggagtcgaaGgtggacaatcttgttgtcaa	13	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135028024G>A	ENST00000409645.1	+	3	561	c.309G>A	c.(307-309)aaG>aaA	p.K103K	MGAT5_ENST00000281923.2_Silent_p.K103K			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	103					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGGAGTCGAAGGTGGACAATC	0.413													False	0	False	2:135028024	0	A	135028024	G	A	135028024	2	1	88	1	0	0	0	0	0	0	0	1	9615	991	35	2		2	MGAT5	2	135028024	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1485016	135028024	108171349	2777	10489											
MGAT5	4249	broad.mit.edu	37	chr2	135199477	135199477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcaacaaggacaaggAcatgctgaagtaagtgccct	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135199477A>G	ENST00000409645.1	+	16	2270	c.2018A>G	c.(2017-2019)gAc>gGc	p.D673G	MGAT5_ENST00000281923.2_Missense_Mutation_p.D673G			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	673					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AAGGACAAGGACATGCTGAAG	0.587													False	0	True	2:135199477	0	G	135199477	A	G	135199477	3	3	88	1	0	0	0	0	1	0	0	0	9615	275	10	4	2076	4	MGAT5	2	135199477	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	171453	135199477	107999896	2778	10490											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135920351	135920351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttcttcagttaagaagaTcataaagcagataatatccc	5	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135920351T>C	ENST00000264158.8	+	21	2463	c.2420T>C	c.(2419-2421)aTc>aCc	p.I807T	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.I763T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.I807T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	807						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GTTAAGAAGATCATAAAGCAG	0.323													False	0	False	2:135920351	0	C	135920351	T	C	135920351	3	2	88	1	0	0	0	0	1	0	0	0	13014	1435	50	4	2502	4	RAB3GAP1	2	135920351	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	720874	135920351	107279022	2779	10491											
ZRANB3	84083	broad.mit.edu	37	chr2	136033212	136033212	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatggcaacataccttattTtcgatgactgcttctgtgca	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136033212T>G	ENST00000401392.1	-	9	1292	c.1080A>C	c.(1078-1080)gaA>gaC	p.E360D	ZRANB3_ENST00000536680.1_Missense_Mutation_p.E360D|ZRANB3_ENST00000264159.6_Missense_Mutation_p.E360D			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	360	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		ATACCTTATTTTCGATGACTG	0.318													False	0	True	2:136033212	0	G	136033212	T	G	136033212	3	3	88	1	0	0	0	0	1	0	0	0	18306	1838	64	4	2211	4	ZRANB3	2	136033212	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	112861	136033212	107166161	2780	10492											
R3HDM1	23518	broad.mit.edu	37	chr2	136399206	136399206	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccagtcttctcatggcgcAcctgtcgtctatccaactgt	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136399206A>G	ENST00000264160.4	+	15	1690	c.1320A>G	c.(1318-1320)gcA>gcG	p.A440A	R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000410054.1_Silent_p.A384A|R3HDM1_ENST00000409606.1_Silent_p.A440A|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000409478.1_Intron	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	440							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CTCATGGCGCACCTGTCGTCT	0.498													False	0	False	2:136399206	0	G	136399206	A	G	136399206	2	3	88	1	0	0	0	0	0	0	0	1	12966	146	6	4		4	R3HDM1	2	136399206	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	365994	136399206	106800167	2781	10493											
R3HDM1	23518	broad.mit.edu	37	chr2	136409370	136409370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgctgatggttctgaccCtcatgccgccatgttccagt	9	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136409370C>T	ENST00000264160.4	+	17	2061	c.1691C>T	c.(1690-1692)cCt>cTt	p.P564L	R3HDM1_ENST00000410054.1_Missense_Mutation_p.P509L|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P565L|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P435L|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P436L	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	564							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GGTTCTGACCCTCATGCCGCC	0.502													False	0	True	2:136409370	0	T	136409370	C	T	136409370	3	4	88	1	0	0	0	0	1	0	0	0	12966	681	24	2	1749	2	R3HDM1	2	136409370	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10164	136409370	106790003	2782	10494											
R3HDM1	23518	broad.mit.edu	37	chr2	136481790	136481790	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaacaaattaactcagtTaacaagtttaagctgagaac	6	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136481790T>C	ENST00000264160.4	+	26	3598	c.3228T>C	c.(3226-3228)gtT>gtC	p.V1076V	R3HDM1_ENST00000410054.1_Silent_p.V1021V|R3HDM1_ENST00000409606.1_Silent_p.V1077V|R3HDM1_ENST00000329971.3_Silent_p.V947V|R3HDM1_ENST00000409478.1_Silent_p.V948V	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	1076							nucleic acid binding	p.V1076V(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTAACTCAGTTAACAAGTTTA	0.448													False	0	False	2:136481790	0	C	136481790	T	C	136481790	2	2	88	1	0	0	0	0	0	0	0	1	12966	1741	61	4		4	R3HDM1	2	136481790	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72420	136481790	106717583	2783	10495											
UBXN4	23190	broad.mit.edu	37	chr2	136513182	136513182	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatttgaacctaacaacacTtgtgaaaactctcagtccag	5	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136513182T>G	ENST00000272638.9	+	5	740	c.429T>G	c.(427-429)acT>acG	p.T143T	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	143					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTAACAACACTTGTGAAAACT	0.398													False	0	False	2:136513182	0	G	136513182	T	G	136513182	2	3	88	1	0	0	0	0	0	0	0	1	17000	1596	56	4		4	UBXN4	2	136513182	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31392	136513182	106686191	2784	10496											
UBXN4	23190	broad.mit.edu	37	chr2	136533888	136533888	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcagttcccttctgatgcTcctctagaagaggcaaggca	9	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136533888T>G	ENST00000272638.9	+	10	1331	c.1020T>G	c.(1018-1020)gcT>gcG	p.A340A	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	340	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTTCTGATGCTCCTCTAGAAG	0.358													False	0	False	2:136533888	0	G	136533888	T	G	136533888	2	3	88	1	0	0	0	0	0	0	0	1	17000	1538	54	4		4	UBXN4	2	136533888	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20706	136533888	106665485	2785	10497											
UBXN4	23190	broad.mit.edu	37	chr2	136540441	136540441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacacttggaatggaaattCcactcaacagatgtagtgtg	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136540441C>T	ENST00000272638.9	+	13	1822	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	504					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AATGGAAATTCCACTCAACAG	0.348													False	0	False	2:136540441	0	T	136540441	C	T	136540441	3	4	88	1	0	0	0	0	1	0	0	0	17000	855	30	2	1561	2	UBXN4	2	136540441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6553	136540441	106658932	2786	10498											
LCT	3938	broad.mit.edu	37	chr2	136566094	136566095	+	Frame_Shift_Ins	INS	-	-	ATAATTCTTTATCT													ggattggtcagccccactccINSgttttcggtgatgtaaatgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136566094_136566095insATAATTCTTTATCT	ENST00000264162.2	-	8	3832_3833	c.3822_3823insAGATAAAGAATTAT	c.(3820-3825)aacggafs	p.G1275fs		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1275	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCCCCACTCCGTTTTCGGTGA	0.505													False	0	True	2:136566094	0	ATAATTCTTTATCT	136566095	-	ATAATTCTTTATCT	136566094	7	5	88	1	0	1	1	0	0	0	0	0	8744	661	23	0	2000	0	LCT	2	136566094	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	25653	136566094	106633279	2787	10499											
LCT	3938	broad.mit.edu	37	chr2	136567505	136567505	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccagaagggccttcgaaGccatcaatgagggaacgagc	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136567505G>A	ENST00000264162.2	-	8	2422	c.2412C>T	c.(2410-2412)ggC>ggT	p.G804G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	804	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGCCTTCGAAGCCATCAATGA	0.443													False	0	False	2:136567505	0	A	136567505	G	A	136567505	2	1	88	1	0	0	0	0	0	0	0	1	8744	958	34	2		2	LCT	2	136567505	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1411	136567505	106631868	2788	10500											
LCT	3938	broad.mit.edu	37	chr2	136569955	136569955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagagattttcactttccCctatgggcatgccattcccg	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136569955C>T	ENST00000264162.2	-	7	2289	c.2279G>A	c.(2278-2280)gGg>gAg	p.G760E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	760	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTCACTTTCCCCTATGGGCAT	0.443													False	0	True	2:136569955	0	T	136569955	C	T	136569955	3	4	88	1	0	0	0	0	1	0	0	0	8744	623	22	2	3548	2	LCT	2	136569955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2450	136569955	106629418	2789	10501											
LCT	3938	broad.mit.edu	37	chr2	136570077	136570077	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgaatccaagaggatgaggtCtggggccacacatggttcac	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136570077C>T	ENST00000264162.2	-	7	2167	c.2157G>A	c.(2155-2157)caG>caA	p.Q719Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	719	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGATGAGGTCTGGGGCCACA	0.522													False	0	False	2:136570077	0	T	136570077	C	T	136570077	2	4	88	1	0	0	0	0	0	0	0	1	8744	912	32	2		2	LCT	2	136570077	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122	136570077	106629296	2790	10502											
LCT	3938	broad.mit.edu	37	chr2	136575093	136575093	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgctctcattctgccatcCaccatgatcctgcagggcct	7	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136575093C>A	ENST00000264162.2	-	6	1535	c.1525G>T	c.(1525-1527)Gga>Tga	p.G509*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	509	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTCTGCCATCCACCATGATCC	0.577													False	0	False	2:136575093	0	A	136575093	C	A	136575093	4	1	88	1	0	0	0	0	0	1	0	0	8744	603	21	3	4306	3	LCT	2	136575093	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5016	136575093	106624280	2791	10503											
LCT	3938	broad.mit.edu	37	chr2	136594308	136594308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggtcagcaaaggcttcGgttctccggagggtgctggc	16	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136594308G>A	ENST00000264162.2	-	1	442	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	144	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CAAAGGCTTCGGTTCTCCGGA	0.597													False	0	False	2:136594308	0	A	136594308	G	A	136594308	2	1	88	1	0	0	0	0	0	0	0	1	8744	1103	39	1		1	LCT	2	136594308	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19215	136594308	106605065	2792	10504											
MCM6	4175	broad.mit.edu	37	chr2	136602132	136602132	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacatagtgtgtgagtcgatGaataactttctctatgattc	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136602132G>A	ENST00000264156.2	-	16	2392	c.2332C>T	c.(2332-2334)Cat>Tat	p.H778Y		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	778					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GTGAGTCGATGAATAACTTTC	0.418													False	0	False	2:136602132	0	A	136602132	G	A	136602132	3	1	88	1	0	0	0	0	1	0	0	0	9458	1290	45	2	141	2	MCM6	2	136602132	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7824	136602132	106597241	2793	10505											
MCM6	4175	broad.mit.edu	37	chr2	136602208	136602208	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgattcgatttccttcaaGtaccagttaacaagctcgct	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136602208G>T	ENST00000264156.2	-	16	2316	c.2256C>A	c.(2254-2256)taC>taA	p.Y752*	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	752					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TTTCCTTCAAGTACCAGTTAA	0.368													False	0	False	2:136602208	0	T	136602208	G	T	136602208	4	4	88	1	0	0	0	0	0	1	0	0	9458	1024	36	3	217	3	MCM6	2	136602208	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	136602208	106597165	2794	10506											
MCM6	4175	broad.mit.edu	37	chr2	136610461	136610461	+	Missense_Mutation	SNP	G	G	A													tgaatgcaaatctactatgcGcctggcaatggcataatctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136610461G>A	ENST00000264156.2	-	12	1711	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	551	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCTACTATGCGCCTGGCAATG	0.363													False	0	False	2:136610461	0	A	136610461	G	A	136610461	3	1	88	1	0	0	0	0	1	0	0	0	9458	1087	38	1	838	1	MCM6	2	136610461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8253	136610461	106588912	2795	10507	156	2									
MCM6	4175	broad.mit.edu	37	chr2	136610469	136610469	+	Missense_Mutation	SNP	A	A	G													aatctactatgcgcctggcaAtggcataatctgtaacctaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136610469A>G	ENST00000264156.2	-	12	1703	c.1643T>C	c.(1642-1644)aTt>aCt	p.I548T	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	548	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GCGCCTGGCAATGGCATAATC	0.368													False	0	False	2:136610469	0	G	136610469	A	G	136610469	3	3	88	1	0	0	0	0	1	0	0	0	9458	101	4	4	846	4	MCM6	2	136610469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8	136610469	106588904	2796	10508	156	2									
MCM6	4175	broad.mit.edu	37	chr2	136614334	136614334	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaggataaagaagagatcGaatcgggacatgatgggagc	14	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136614334G>A	ENST00000264156.2	-	11	1650	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	530	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	AGAAGAGATCGAATCGGGACA	0.413													False	0	False	2:136614334	0	A	136614334	G	A	136614334	2	1	88	1	0	0	0	0	0	0	0	1	9458	1049	37	1		1	MCM6	2	136614334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3865	136614334	106585039	2797	10509											
MCM6	4175	broad.mit.edu	37	chr2	136627930	136627930	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacacaggtaagggtaaaCtctgaaaaacaaaaaagtca	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136627930C>T	ENST00000264156.2	-	3	316	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	86					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TAAGGGTAAACTCTGAAAAAC	0.433													False	0	True	2:136627930	0	T	136627930	C	T	136627930	5	4	88	1	0	0	0	0	0	0	1	0	9458	579	20	2	2269	2	MCM6	2	136627930	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13596	136627930	106571443	2798	10510											
DARS	1615	broad.mit.edu	37	chr2	136673868	136673868	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgcttcacaatattctagtCttagagttggctccaaaaat	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136673868C>T	ENST00000264161.4	-	11	1249	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	DARS_ENST00000537273.1_Missense_Mutation_p.R245K	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	345					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ATATTCTAGTCTTAGAGTTGG	0.368													False	0	False	2:136673868	0	T	136673868	C	T	136673868	3	4	88	1	0	0	0	0	1	0	0	0	4266	913	32	2	495	2	DARS	2	136673868	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45938	136673868	106525505	2799	10511											
CXCR4	0	broad.mit.edu	37	chr2	136872482	136872482	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actcagactcagtggaaacaGatgaatgtccacctcgcttt	8	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136872482G>T	ENST00000409817.1	-	1	1331	c.1028C>A	c.(1027-1029)tCt>tAt	p.S343Y	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.S339Y	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	339					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	AGTGGAAACAGATGAATGTCC	0.418													False	0	False	2:136872482	0	T	136872482	G	T	136872482	3	4	88	1	0	0	0	0	1	0	0	0	4118	942	33	3	46	3	CXCR4	2	136872482	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	198614	136872482	106326891	2800	10512											
CXCR4	0	broad.mit.edu	37	chr2	136872944	136872944	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggtagaagcggtcacagAtatatctgtcatctgcctca	11	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136872944A>C	ENST00000409817.1	-	1	869	c.566T>G	c.(565-567)aTc>aGc	p.I189S	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.I185S	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	185	Chemokine binding, important for signaling and HIV-1 coreceptor activity.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GCGGTCACAGATATATCTGTC	0.512													False	0	True	2:136872944	0	C	136872944	A	C	136872944	3	2	88	1	0	0	0	0	1	0	0	0	4118	333	12	4	508	4	CXCR4	2	136872944	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	462	136872944	106326429	2801	10513											
THSD7B	80731	broad.mit.edu	37	chr2	137988686	137988686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcttgtgaaattccctgccGaatggactgtgtgctgagcg	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:137988686G>A	ENST00000409968.1	+	8	1974	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q	THSD7B_ENST00000413152.2_Missense_Mutation_p.R568Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R599Q|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTCCCTGCCGAATGGACTGT	0.488													False	0	False	2:137988686	0	A	137988686	G	A	137988686	3	1	88	1	0	0	0	0	1	0	0	0	15962	1058	37	1	1729	1	THSD7B	2	137988686	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1115742	137988686	105210687	2802	10514											
THSD7B	80731	broad.mit.edu	37	chr2	138373804	138373804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctaagaccatcactgaaCtcaaggacttgtgctgaaga	9	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:138373804C>A	ENST00000409968.1	+	18	3661	c.3483C>A	c.(3481-3483)aaC>aaA	p.N1161K	THSD7B_ENST00000413152.2_Missense_Mutation_p.N1133K|THSD7B_ENST00000272643.3_Missense_Mutation_p.N1164K|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATCACTGAACTCAAGGACTT	0.443													False	0	False	2:138373804	0	A	138373804	C	A	138373804	3	1	88	1	0	0	0	0	1	0	0	0	15962	564	20	3	3461	3	THSD7B	2	138373804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385118	138373804	104825569	2803	10515											
SPOPL	339745	broad.mit.edu	37	chr2	139318378	139318378	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtttttcgatatcagaatCgagtggaaataaatgattta	8	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:139318378C>T	ENST00000280098.4	+	8	1097	c.718C>T	c.(718-720)Cga>Tga	p.R240*		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	240	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ATATCAGAATCGAGTGGAAAT	0.313													False	0	False	2:139318378	0	T	139318378	C	T	139318378	4	4	88	1	0	0	0	0	0	1	0	0	15167	876	31	1	744	1	SPOPL	2	139318378	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	944574	139318378	103880995	2804	10516											
LRP1B	53353	broad.mit.edu	37	chr2	140990894	140990894	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggattggagtaatttgttGgctgaaggagaaaaaaaata	12	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:140990894G>A	ENST00000389484.3	-	91	14632	c.13661C>T	c.(13660-13662)cCa>cTa	p.P4554L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4554					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAATTTGTTGGCTGAAGGAG	0.328										TSP Lung(27;0.18)			False	0	False	2:140990894	0	A	140990894	G	A	140990894	5	1	88	1	0	0	0	0	0	0	1	0	9017	1362	47	2	142	2	LRP1B	2	140990894	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1672516	140990894	102208479	2805	10517											
LRP1B	53353	broad.mit.edu	37	chr2	141032124	141032124	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacacttccatcatccccAatggtacatgattcagaatt	4	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141032124A>C	ENST00000389484.3	-	85	13982	c.13011T>G	c.(13009-13011)atT>atG	p.I4337M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4337	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCATCCCCAATGGTACATG	0.413										TSP Lung(27;0.18)			False	0	True	2:141032124	0	C	141032124	A	C	141032124	3	2	88	1	0	0	0	0	1	0	0	0	9017	126	5	4	816	4	LRP1B	2	141032124	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41230	141032124	102167249	2806	10518											
LRP1B	53353	broad.mit.edu	37	chr2	141113963	141113963	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatccaggcttacagcgacaGaaaacagatgtttttatttg	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141113963G>T	ENST00000389484.3	-	75	12449	c.11478C>A	c.(11476-11478)ttC>ttA	p.F3826L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3826	EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACAGCGACAGAAAACAGATG	0.343										TSP Lung(27;0.18)			False	0	True	2:141113963	0	T	141113963	G	T	141113963	3	4	88	1	0	0	0	0	1	0	0	0	9017	933	33	3	2389	3	LRP1B	2	141113963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81839	141113963	102085410	2807	10519											
LRP1B	53353	broad.mit.edu	37	chr2	141114042	141114042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcacaggtatattcagtaGgagctgggatttaaaaatat	9	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141114042G>T	ENST00000389484.3	-	75	12370	c.11399C>A	c.(11398-11400)cCt>cAt	p.P3800H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3800					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATTCAGTAGGAGCTGGGAT	0.303										TSP Lung(27;0.18)			False	0	False	2:141114042	0	T	141114042	G	T	141114042	3	4	88	1	0	0	0	0	1	0	0	0	9017	1000	35	3	2468	3	LRP1B	2	141114042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	141114042	102085331	2808	10520											
LRP1B	53353	broad.mit.edu	37	chr2	141200074	141200074	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagtcacagacactcaccGcagttggcctcgtctgatgc	10	14	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141200074G>A	ENST00000389484.3	-	66	11384	c.10413C>T	c.(10411-10413)tgC>tgT	p.C3471C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3471	LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACACTCACCGCAGTTGGCCT	0.448										TSP Lung(27;0.18)			False	0	False	2:141200074	0	A	141200074	G	A	141200074	5	1	88	1	0	0	0	0	0	0	1	0	9017	1101	38	1	3490	1	LRP1B	2	141200074	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86032	141200074	101999299	2809	10521											
LRP1B	53353	broad.mit.edu	37	chr2	141208170	141208170	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcagatccatcaccacAgtcatccacggtgtcacatt	5	14	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141208170A>G	ENST00000389484.3	-	63	10995	c.10024T>C	c.(10024-10026)Tgt>Cgt	p.C3342R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3342	LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATCACCACAGTCATCCACG	0.358										TSP Lung(27;0.18)			False	0	False	2:141208170	0	G	141208170	A	G	141208170	3	3	88	1	0	0	0	0	1	0	0	0	9017	188	7	4	3891	4	LRP1B	2	141208170	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8096	141208170	101991203	2810	10522											
LRP1B	53353	broad.mit.edu	37	chr2	141215049	141215049	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taccatcaggttgtctataaGaatgatacacctggatatct	7	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141215049G>T	ENST00000389484.3	-	61	10768	c.9797C>A	c.(9796-9798)tCt>tAt	p.S3266Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3266					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGTCTATAAGAATGATACAC	0.363										TSP Lung(27;0.18)			False	0	False	2:141215049	0	T	141215049	G	T	141215049	3	4	88	1	0	0	0	0	1	0	0	0	9017	942	33	3	4126	3	LRP1B	2	141215049	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6879	141215049	101984324	2811	10523											
LRP1B	53353	broad.mit.edu	37	chr2	141242946	141242946	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaagacaagtctctgggaaActtcagccttttgctaacga	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141242946A>T	ENST00000389484.3	-	59	10362	c.9391T>A	c.(9391-9393)Ttt>Att	p.F3131I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3131					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTCTGGGAAACTTCAGCCTT	0.348										TSP Lung(27;0.18)			False	0	True	2:141242946	0	T	141242946	A	T	141242946	3	4	88	1	0	0	0	0	1	0	0	0	9017	43	2	5	4540	5	LRP1B	2	141242946	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27897	141242946	101956427	2812	10524											
LRP1B	53353	broad.mit.edu	37	chr2	141253268	141253268	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagagcattcatcaatgtctAcacatgttttgccgtcatcc	6	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141253268A>C	ENST00000389484.3	-	56	9871	c.8900T>G	c.(8899-8901)gTa>gGa	p.V2967G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2967	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCAATGTCTACACATGTTTT	0.413										TSP Lung(27;0.18)			False	0	False	2:141253268	0	C	141253268	A	C	141253268	3	2	88	1	0	0	0	0	1	0	0	0	9017	391	14	4	5043	4	LRP1B	2	141253268	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10322	141253268	101946105	2813	10525											
LRP1B	53353	broad.mit.edu	37	chr2	141259311	141259311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacatccactgactttcttaCtcaaacattcatttatatgg	3	10	3	1	rs139867739		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141259311C>A	ENST00000389484.3	-	55	9766	c.8795G>T	c.(8794-8796)aGt>aTt	p.S2932I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2932	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACTTTCTTACTCAAACATTC	0.403										TSP Lung(27;0.18)			False	0	False	2:141259311	0	A	141259311	C	A	141259311	3	1	88	1	0	0	0	0	1	0	0	0	9017	565	20	3	5152	3	LRP1B	2	141259311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6043	141259311	101940062	2814	10526											
LRP1B	53353	broad.mit.edu	37	chr2	141283540	141283540	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttttcactccaagcttataGaaatgtgtgcagtctgtgtt	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141283540G>A	ENST00000389484.3	-	49	8870	c.7899C>T	c.(7897-7899)ttC>ttT	p.F2633F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2633	LDL-receptor class A 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAGCTTATAGAAATGTGTGC	0.393										TSP Lung(27;0.18)			False	0	True	2:141283540	0	A	141283540	G	A	141283540	2	1	88	1	0	0	0	0	0	0	0	1	9017	933	33	2		2	LRP1B	2	141283540	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24229	141283540	101915833	2815	10527											
LRP1B	53353	broad.mit.edu	37	chr2	141359166	141359166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtccagtacagtgtaTcccaggctctgtgataggca	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141359166T>C	ENST00000389484.3	-	42	7813	c.6842A>G	c.(6841-6843)gAt>gGt	p.D2281G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2281					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTACAGTGTATCCCAGGCTCT	0.453										TSP Lung(27;0.18)			False	0	True	2:141359166	0	C	141359166	T	C	141359166	3	2	88	1	0	0	0	0	1	0	0	0	9017	1435	50	4	7157	4	LRP1B	2	141359166	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	75626	141359166	101840207	2816	10528											
LRP1B	53353	broad.mit.edu	37	chr2	141526881	141526881	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggtattcccctgattccttCatgaacagagtacataagaa	7	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141526881C>T	ENST00000389484.3	-	35	6630	c.5659G>A	c.(5659-5661)Gaa>Aaa	p.E1887K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1887					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGATTCCTTCATGAACAGAG	0.403										TSP Lung(27;0.18)			False	0	False	2:141526881	0	T	141526881	C	T	141526881	3	4	88	1	0	0	0	0	1	0	0	0	9017	835	29	2	8368	2	LRP1B	2	141526881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167715	141526881	101672492	2817	10529											
LRP1B	53353	broad.mit.edu	37	chr2	141533752	141533752	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggggtttcttccgtctctTttgctgcaggttcctagctg	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141533752T>G	ENST00000389484.3	-	33	6386	c.5415A>C	c.(5413-5415)aaA>aaC	p.K1805N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1805					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCGTCTCTTTTGCTGCAGG	0.383										TSP Lung(27;0.18)			False	0	True	2:141533752	0	G	141533752	T	G	141533752	3	3	88	1	0	0	0	0	1	0	0	0	9017	1838	64	4	8620	4	LRP1B	2	141533752	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6871	141533752	101665621	2818	10530											
LRP1B	53353	broad.mit.edu	37	chr2	141607868	141607868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactcctctgatttcagaaCgtcttgcataaagaagaaat	6	10	3	4	rs148341635	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141607868C>T	ENST00000389484.3	-	29	5713	c.4742G>A	c.(4741-4743)cGt>cAt	p.R1581H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1581					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATTTCAGAACGTCTTGCATA	0.318										TSP Lung(27;0.18)			False	0	False	2:141607868	0	T	141607868	C	T	141607868	3	4	88	1	0	0	0	0	1	0	0	0	9017	536	19	1	9309	1	LRP1B	2	141607868	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74116	141607868	101591505	2819	10531											
LRP1B	53353	broad.mit.edu	37	chr2	141641588	141641588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccacttcaatggcactgaCacctacaaaagaaggaaaac	6	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141641588C>T	ENST00000389484.3	-	25	4938	c.3967G>A	c.(3967-3969)Gtc>Atc	p.V1323I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1323					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGGCACTGACACCTACAAAA	0.453										TSP Lung(27;0.18)			False	0	False	2:141641588	0	T	141641588	C	T	141641588	3	4	88	1	0	0	0	0	1	0	0	0	9017	478	17	2	10100	2	LRP1B	2	141641588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33720	141641588	101557785	2820	10532											
LRP1B	53353	broad.mit.edu	37	chr2	141660727	141660727	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctccattgttcagcgaAcactcatctataaaaagggg	8	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141660727A>G	ENST00000389484.3	-	23	4499	c.3528T>C	c.(3526-3528)tgT>tgC	p.C1176C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1176					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTTCAGCGAACACTCATCTA	0.393										TSP Lung(27;0.18)			False	0	False	2:141660727	0	G	141660727	A	G	141660727	2	3	88	1	0	0	0	0	0	0	0	1	9017	41	2	4		4	LRP1B	2	141660727	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19139	141660727	101538646	2821	10533											
LRP1B	53353	broad.mit.edu	37	chr2	141665573	141665573	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacacaagaaactgtcAcagtcatcttcatctgactg	7	12	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141665573A>G	ENST00000389484.3	-	22	4364	c.3393T>C	c.(3391-3393)tgT>tgC	p.C1131C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1131	LDL-receptor class A 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAAACTGTCACAGTCATCTT	0.448										TSP Lung(27;0.18)			False	0	False	2:141665573	0	G	141665573	A	G	141665573	2	3	88	1	0	0	0	0	0	0	0	1	9017	157	6	4		4	LRP1B	2	141665573	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4846	141665573	101533800	2822	10534											
LRP1B	53353	broad.mit.edu	37	chr2	141747212	141747212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatttaaactgatcatcagGacagctatgattgactggga	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141747212G>A	ENST00000389484.3	-	17	3630	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	887	LDL-receptor class A 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCATCAGGACAGCTATGA	0.383										TSP Lung(27;0.18)			False	0	False	2:141747212	0	A	141747212	G	A	141747212	3	1	88	1	0	0	0	0	1	0	0	0	9017	1174	41	2	11440	2	LRP1B	2	141747212	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81639	141747212	101452161	2823	10535											
LRP1B	53353	broad.mit.edu	37	chr2	141806690	141806690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggtttaccagattttctaTggggatcatgtattcatcag	10	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141806690T>C	ENST00000389484.3	-	11	2625	c.1654A>G	c.(1654-1656)Ata>Gta	p.I552V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	552					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGATTTTCTATGGGGATCATG	0.423										TSP Lung(27;0.18)			False	0	True	2:141806690	0	C	141806690	T	C	141806690	3	2	88	1	0	0	0	0	1	0	0	0	9017	1464	51	4	12469	4	LRP1B	2	141806690	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59478	141806690	101392683	2824	10536											
LRP1B	53353	broad.mit.edu	37	chr2	141986788	141986788	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatattgattgtccattcatCtgttaatcctcctgcttttg	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141986788C>T	ENST00000389484.3	-	6	1785	c.814G>A	c.(814-816)Gat>Aat	p.D272N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	272					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCATTCATCTGTTAATCCT	0.318										TSP Lung(27;0.18)			False	0	False	2:141986788	0	T	141986788	C	T	141986788	3	4	88	1	0	0	0	0	1	0	0	0	9017	913	32	2	13329	2	LRP1B	2	141986788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180098	141986788	101212585	2825	10537											
KYNU	8942	broad.mit.edu	37	chr2	143685260	143685260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgaagtggggaagcgtcCttggattacaggagatgaga	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143685260C>A	ENST00000264170.4	+	4	581	c.323C>A	c.(322-324)cCt>cAt	p.P108H	KYNU_ENST00000410015.2_Missense_Mutation_p.P108H|KYNU_ENST00000375773.2_Missense_Mutation_p.P108H|KYNU_ENST00000409512.1_Missense_Mutation_p.P108H	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	108					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GGGAAGCGTCCTTGGATTACA	0.363													False	0	False	2:143685260	0	A	143685260	C	A	143685260	3	1	88	1	0	0	0	0	1	0	0	0	8638	681	24	3	333	3	KYNU	2	143685260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1698472	143685260	99514113	2826	10538											
KYNU	8942	broad.mit.edu	37	chr2	143742745	143742745	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattttgcctgctggtgttcCtacaaggtacaaacgagtta	10	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143742745C>A	ENST00000264170.4	+	9	1080	c.822C>A	c.(820-822)tcC>tcA	p.S274S	KYNU_ENST00000375773.2_Silent_p.S274S|KYNU_ENST00000409512.1_Silent_p.S274S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	274					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GCTGGTGTTCCTACAAGGTAC	0.393													False	0	False	2:143742745	0	A	143742745	C	A	143742745	2	1	88	1	0	0	0	0	0	0	0	1	8638	668	24	3		3	KYNU	2	143742745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57485	143742745	99456628	2827	10539											
ARHGAP15	55843	broad.mit.edu	37	chr2	143959710	143959710	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatatatttgcagatatccaGacacagaaggaatcattcac	6	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143959710G>T	ENST00000409869.1	+	4	350	c.173G>T	c.(172-174)aGa>aTa	p.R58I	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.R58I			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	58					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CAGATATCCAGACACAGAAGG	0.303													False	0	False	2:143959710	0	T	143959710	G	T	143959710	3	4	88	1	0	0	0	0	1	0	0	0	868	942	33	3	179	3	ARHGAP15	2	143959710	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216965	143959710	99239663	2828	10540											
ARHGAP15	55843	broad.mit.edu	37	chr2	143974006	143974006	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaattgcagatggaggaaaGaaactaaggtaataaaattc	9	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143974006G>A	ENST00000409869.1	+	5	465	c.288G>A	c.(286-288)aaG>aaA	p.K96K	ARHGAP15_ENST00000295095.6_Silent_p.K96K			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	96	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ATGGAGGAAAGAAACTAAGGT	0.338													False	0	True	2:143974006	0	A	143974006	G	A	143974006	2	1	88	1	0	0	0	0	0	0	0	1	868	933	33	2		2	ARHGAP15	2	143974006	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14296	143974006	99225367	2829	10541											
GTDC1	79712	broad.mit.edu	37	chr2	144764985	144764985	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattaaaattcttcaataaAtcctctgaatctctctgctc	3	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:144764985A>G	ENST00000392869.2	-	6	791	c.639T>C	c.(637-639)gaT>gaC	p.D213D	GTDC1_ENST00000463875.2_Silent_p.D84D|GTDC1_ENST00000542155.1_Silent_p.D213D|GTDC1_ENST00000241391.5_Silent_p.D213D|GTDC1_ENST00000344850.4_Silent_p.D213D|GTDC1_ENST00000392867.3_Silent_p.D213D|GTDC1_ENST00000409214.1_Silent_p.D213D|GTDC1_ENST00000409298.1_Intron	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1						biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TCTTCAATAAATCCTCTGAAT	0.423													False	0	True	2:144764985	0	G	144764985	A	G	144764985	2	3	88	1	0	0	0	0	0	0	0	1	6898	98	4	4		4	GTDC1	2	144764985	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	790979	144764985	98434388	2830	10542											
ZEB2	9839	broad.mit.edu	37	chr2	145147139	145147139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catctcgtatcgtttcgggaTccgtatccatacttttattt	6	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145147139T>C	ENST00000558170.2	-	10	4708	c.3524A>G	c.(3523-3525)gAt>gGt	p.D1175G	ZEB2_ENST00000303660.4_Missense_Mutation_p.D1175G|ZEB2_ENST00000409487.3_Missense_Mutation_p.D1175G|ZEB2_ENST00000539609.3_Missense_Mutation_p.D1151G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1175	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CGTTTCGGGATCCGTATCCAT	0.493													False	0	False	2:145147139	0	C	145147139	T	C	145147139	3	2	88	1	0	0	0	0	1	0	0	0	17707	1435	50	4	124	4	ZEB2	2	145147139	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	382154	145147139	98052234	2831	10543											
ZEB2	9839	broad.mit.edu	37	chr2	145155993	145155993	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagtcctgggtatggtcGtagcccaggaatactggtct	12	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145155993G>A	ENST00000558170.2	-	8	3945	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R921*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R921*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R897*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	921						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGTATGGTCGTAGCCCAGGA	0.498													False	0	False	2:145155993	0	A	145155993	G	A	145155993	4	1	88	1	0	0	0	0	0	1	0	0	17707	1153	40	1	895	1	ZEB2	2	145155993	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8854	145155993	98043380	2832	10544											
ZEB2	9839	broad.mit.edu	37	chr2	145156911	145156911	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactatgttttcatgaggctGcaggaccgccttgatctctt	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145156911G>A	ENST00000558170.2	-	8	3027	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.Q615*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.Q591*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	615						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCATGAGGCTGCAGGACCGCC	0.443													False	0	False	2:145156911	0	A	145156911	G	A	145156911	4	1	88	1	0	0	0	0	0	1	0	0	17707	1328	46	2	1813	2	ZEB2	2	145156911	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	918	145156911	98042462	2833	10545											
ZEB2	9839	broad.mit.edu	37	chr2	145161567	145161567	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagctacagagagggcaggaAaagttctcttcattcttctc	9	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145161567A>G	ENST00000558170.2	-	6	1907	c.723T>C	c.(721-723)ttT>ttC	p.F241F	ZEB2_ENST00000303660.4_Silent_p.F241F|ZEB2_ENST00000409487.3_Silent_p.F241F|ZEB2_ENST00000539609.3_Silent_p.F217F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	241						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGGGCAGGAAAAGTTCTCTT	0.562													False	0	True	2:145161567	0	G	145161567	A	G	145161567	2	3	88	1	0	0	0	0	0	0	0	1	17707	11	1	4		4	ZEB2	2	145161567	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4656	145161567	98037806	2834	10546											
ZEB2	9839	broad.mit.edu	37	chr2	145187540	145187540	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctcagcaatatgaagctTgtcttcctcatctgtttcag	6	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145187540T>C	ENST00000558170.2	-	3	1311	c.127A>G	c.(127-129)Aag>Gag	p.K43E	ZEB2_ENST00000303660.4_Missense_Mutation_p.K43E|ZEB2_ENST00000409487.3_Missense_Mutation_p.K43E|ZEB2_ENST00000539609.3_Missense_Mutation_p.K43E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	43						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATATGAAGCTTGTCTTCCTCA	0.488													False	0	False	2:145187540	0	C	145187540	T	C	145187540	3	2	88	1	0	0	0	0	1	0	0	0	17707	1821	63	4	3549	4	ZEB2	2	145187540	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25973	145187540	98011833	2835	10547											
ACVR2A	92	broad.mit.edu	37	chr2	148680620	148680620	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggatgcatttttgaggataGatatgtatgccatgggatta	13	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:148680620G>A	ENST00000241416.7	+	9	1792	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	ACVR2A_ENST00000535787.1_Missense_Mutation_p.D278N|ACVR2A_ENST00000404590.1_Missense_Mutation_p.D386N	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	386	Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTTGAGGATAGATATGTATGC	0.398													False	0	True	2:148680620	0	A	148680620	G	A	148680620	3	1	88	1	0	0	0	0	1	0	0	0	223	942	33	2	1190	2	ACVR2A	2	148680620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3493080	148680620	94518753	2836	10548											
MBD5	0	broad.mit.edu	37	chr2	149243447	149243447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtaccagaatctccaggcGttccaaggacagtccacaat	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149243447G>A	ENST00000407073.1	+	11	3979	c.2982G>A	c.(2980-2982)gcG>gcA	p.A994A	MBD5_ENST00000404807.1_Silent_p.A1227A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	994						chromosome|nucleus	chromatin binding|DNA binding	p.A994A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATCTCCAGGCGTTCCAAGGAC	0.458													False	0	False	2:149243447	0	A	149243447	G	A	149243447	2	1	88	1	0	0	0	0	0	0	0	1	9414	1132	40	1		1	MBD5	2	149243447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	562827	149243447	93955926	2837	10549											
MBD5	0	broad.mit.edu	37	chr2	149247325	149247325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccagtgctgtcagtgCggtcattcatggacggaaca	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149247325C>T	ENST00000407073.1	+	12	4422	c.3425C>T	c.(3424-3426)gCg>gTg	p.A1142V	MBD5_ENST00000404807.1_Missense_Mutation_p.A1375V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1142						chromosome|nucleus	chromatin binding|DNA binding	p.A1142V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCTGTCAGTGCGGTCATTCAT	0.502													False	0	False	2:149247325	0	T	149247325	C	T	149247325	3	4	88	1	0	0	0	0	1	0	0	0	9414	768	27	1	3451	1	MBD5	2	149247325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3878	149247325	93952048	2838	10550											
MBD5	0	broad.mit.edu	37	chr2	149248116	149248116	+	Nonsense_Mutation	SNP	G	G	T													ggcctggaaaattagtaagaGaagacgacgttcacaattca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149248116G>T	ENST00000407073.1	+	12	5213	c.4216G>T	c.(4216-4218)Gaa>Taa	p.E1406*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.E1639*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1406	PWWP.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTAGTAAGAGAAGACGACGT	0.403													False	0	False	2:149248116	0	T	149248116	G	T	149248116	4	4	88	1	0	0	0	0	0	1	0	0	9414	943	33	3	4242	3	MBD5	2	149248116	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	791	149248116	93951257	2839	10551	157	2									
MBD5	0	broad.mit.edu	37	chr2	149248121	149248121	+	Silent	SNP	C	C	T													ggaaaattagtaagagaagaCgacgttcacaattcatgtca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149248121C>T	ENST00000407073.1	+	12	5218	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	MBD5_ENST00000404807.1_Silent_p.D1640D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1407	PWWP.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAAGAGAAGACGACGTTCACA	0.408													False	0	False	2:149248121	0	T	149248121	C	T	149248121	2	4	88	1	0	0	0	0	0	0	0	1	9414	535	19	1		1	MBD5	2	149248121	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	149248121	93951252	2840	10552	157	2									
EPC2	26122	broad.mit.edu	37	chr2	149519453	149519453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattaagagaagagagaaaAcaaaacgagaattattgcac	9	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149519453A>G	ENST00000258484.6	+	5	803	c.769A>G	c.(769-771)Aca>Gca	p.T257A		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	257					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AAGAGAGAAAACAAAACGAGA	0.343													False	0	True	2:149519453	0	G	149519453	A	G	149519453	3	3	88	1	0	0	0	0	1	0	0	0	5193	43	2	4	787	4	EPC2	2	149519453	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	271332	149519453	93679920	2841	10553											
EPC2	26122	broad.mit.edu	37	chr2	149528914	149528914	+	Missense_Mutation	SNP	G	G	A													acaataaaagagtttctgcaGcatctgtagctttattgaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149528914G>A	ENST00000258484.6	+	10	1712	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	560					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGTTTCTGCAGCATCTGTAGC	0.373													False	0	False	2:149528914	0	A	149528914	G	A	149528914	3	1	88	1	0	0	0	0	1	0	0	0	5193	971	34	2	1716	2	EPC2	2	149528914	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9461	149528914	93670459	2842	10554	158	2									
EPC2	26122	broad.mit.edu	37	chr2	149528924	149528924	+	Missense_Mutation	SNP	C	C	T													agtttctgcagcatctgtagCtttattgaacaccagcaaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149528924C>T	ENST00000258484.6	+	10	1722	c.1688C>T	c.(1687-1689)gCt>gTt	p.A563V		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	563					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GCATCTGTAGCTTTATTGAAC	0.368													False	0	True	2:149528924	0	T	149528924	C	T	149528924	3	4	88	1	0	0	0	0	1	0	0	0	5193	797	28	2	1726	2	EPC2	2	149528924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	149528924	93670449	2843	10555	158	2									
KIF5C	3800	broad.mit.edu	37	chr2	149866864	149866864	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggcccattcagcccagatCggtacgtgcgtgcacagtgg	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149866864C>T	ENST00000435030.1	+	24	3134	c.2766C>T	c.(2764-2766)atC>atT	p.I922I	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Splice_Site_p.I690I|KIF5C_ENST00000414838.2_Splice_Site_p.I827I			O60282	KIF5C_HUMAN	kinesin family member 5C	922	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CAGCCCAGATCGGTACGTGCG	0.607													False	0	False	2:149866864	0	T	149866864	C	T	149866864	5	4	88	1	0	0	0	0	0	0	1	0	8357	898	31	1	2782	1	KIF5C	2	149866864	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	337940	149866864	93332509	2844	10556											
RND3	390	broad.mit.edu	37	chr2	151326722	151326722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcattcgatataagtagCtgctccaatctgtttggcca	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:151326722C>T	ENST00000375734.2	-	5	763	c.514G>A	c.(514-516)Gct>Act	p.A172T	RND3_ENST00000263895.4_Missense_Mutation_p.A172T|RND3_ENST00000409557.1_Missense_Mutation_p.A43T	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	172					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		ATATAAGTAGCTGCTCCAATC	0.403													False	0	False	2:151326722	0	T	151326722	C	T	151326722	3	4	88	1	0	0	0	0	1	0	0	0	13500	797	28	2	224	2	RND3	2	151326722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1459858	151326722	91872651	2845	10557											
RIF1	55183	broad.mit.edu	37	chr2	152298469	152298469	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaaagtattaggttcAccagcatatcaggttgctaa	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152298469A>G	ENST00000243326.5	+	15	2181	c.1698A>G	c.(1696-1698)tcA>tcG	p.S566S	RIF1_ENST00000453091.2_Silent_p.S566S|RIF1_ENST00000428287.2_Silent_p.S566S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Silent_p.S566S|RIF1_ENST00000430328.2_Silent_p.S566S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATTAGGTTCACCAGCATATC	0.299													False	0	False	2:152298469	0	G	152298469	A	G	152298469	2	3	88	1	0	0	0	0	0	0	0	1	13438	146	6	4		4	RIF1	2	152298469	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	971747	152298469	90900904	2846	10558											
RIF1	55183	broad.mit.edu	37	chr2	152311610	152311610	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggcatatttctttgccttCtatgatccgaaaaatatttg	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152311610C>A	ENST00000243326.5	+	21	3029	c.2546C>A	c.(2545-2547)tCt>tAt	p.S849Y	RIF1_ENST00000453091.2_Missense_Mutation_p.S849Y|RIF1_ENST00000428287.2_Missense_Mutation_p.S849Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S849Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S849Y			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCTTTGCCTTCTATGATCCGA	0.358													False	0	False	2:152311610	0	A	152311610	C	A	152311610	3	1	88	1	0	0	0	0	1	0	0	0	13438	913	32	3	2628	3	RIF1	2	152311610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13141	152311610	90887763	2847	10559											
RIF1	55183	broad.mit.edu	37	chr2	152320230	152320230	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatatcagcagatcaaatggTaaatgaggatagtcaggttc	10	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152320230T>C	ENST00000243326.5	+	29	4679	c.4196T>C	c.(4195-4197)gTa>gCa	p.V1399A	RIF1_ENST00000453091.2_Missense_Mutation_p.V1399A|RIF1_ENST00000428287.2_Missense_Mutation_p.V1399A|RIF1_ENST00000444746.2_Missense_Mutation_p.V1399A|RIF1_ENST00000430328.2_Missense_Mutation_p.V1399A			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATCAAATGGTAAATGAGGAT	0.378													False	0	True	2:152320230	0	C	152320230	T	C	152320230	3	2	88	1	0	0	0	0	1	0	0	0	13438	1638	57	4	4310	4	RIF1	2	152320230	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8620	152320230	90879143	2848	10560											
RIF1	55183	broad.mit.edu	37	chr2	152321120	152321120	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgataattgtagtttgggaGaatcctcaaaaatagggata	10	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152321120G>T	ENST00000243326.5	+	29	5569	c.5086G>T	c.(5086-5088)Gaa>Taa	p.E1696*	RIF1_ENST00000453091.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.E1696*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.E1696*			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAGTTTGGGAGAATCCTCAAA	0.368													False	0	False	2:152321120	0	T	152321120	G	T	152321120	4	4	88	1	0	0	0	0	0	1	0	0	13438	943	33	3	5200	3	RIF1	2	152321120	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	890	152321120	90878253	2849	10561											
RIF1	55183	broad.mit.edu	37	chr2	152322075	152322075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacactcatctgaagaaaCgaataccaaaatgaaaaata	4	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322075C>T	ENST00000243326.5	+	29	6524	c.6041C>T	c.(6040-6042)aCg>aTg	p.T2014M	RIF1_ENST00000453091.2_Missense_Mutation_p.T2014M|RIF1_ENST00000428287.2_Missense_Mutation_p.T2014M|RIF1_ENST00000444746.2_Missense_Mutation_p.T2014M|RIF1_ENST00000430328.2_Missense_Mutation_p.T2014M			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)		Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCTGAAGAAACGAATACCAAA	0.398													False	0	True	2:152322075	0	T	152322075	C	T	152322075	3	4	88	1	0	0	0	0	1	0	0	0	13438	536	19	1	6155	1	RIF1	2	152322075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	955	152322075	90877298	2850	10562											
RIF1	55183	broad.mit.edu	37	chr2	152322115	152322115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaagaaatgatgatcggCgaggcaatggctgaaactgg	14	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322115C>T	ENST00000243326.5	+	29	6564	c.6081C>T	c.(6079-6081)ggC>ggT	p.G2027G	RIF1_ENST00000453091.2_Silent_p.G2027G|RIF1_ENST00000428287.2_Silent_p.G2027G|RIF1_ENST00000444746.2_Silent_p.G2027G|RIF1_ENST00000430328.2_Silent_p.G2027G			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)		Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGATGATCGGCGAGGCAATGG	0.418													False	0	False	2:152322115	0	T	152322115	C	T	152322115	2	4	88	1	0	0	0	0	0	0	0	1	13438	755	27	1		1	RIF1	2	152322115	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	152322115	90877258	2851	10563											
NEB	4703	broad.mit.edu	37	chr2	152346952	152346952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtctggtgcttctgaatGctcagacttctcctcacccc	9	14	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152346952G>A	ENST00000427231.2	-	180	25433	c.25231C>T	c.(25231-25233)Cat>Tat	p.H8411Y	NEB_ENST00000409198.1_Missense_Mutation_p.H6555Y|RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.H8411Y|NEB_ENST00000397336.2_Missense_Mutation_p.H386Y|NEB_ENST00000604864.1_Missense_Mutation_p.H8411Y|NEB_ENST00000509223.2_Missense_Mutation_p.H324Y|NEB_ENST00000397345.3_Missense_Mutation_p.H8411Y|NEB_ENST00000172853.10_Missense_Mutation_p.H6555Y	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6555					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTTCTGAATGCTCAGACTTC	0.577													False	0	False	2:152346952	0	A	152346952	G	A	152346952	3	1	88	1	0	0	0	0	1	0	0	0	10370	1319	46	2	358	2	NEB	2	152346952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24837	152346952	90852421	2852	10564											
NEB	4703	broad.mit.edu	37	chr2	152352790	152352790	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttttctcgccaagtacCgagctaatattttcttgatt	5	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152352790C>T	ENST00000427231.2	-	173	24688	c.24486G>A	c.(24484-24486)tcG>tcA	p.S8162S	NEB_ENST00000409198.1_Splice_Site_p.S6306S|RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Splice_Site_p.S8162S|NEB_ENST00000397336.2_Splice_Site_p.S137S|NEB_ENST00000604864.1_Splice_Site_p.S8162S|NEB_ENST00000509223.2_Splice_Site_p.S106S|NEB_ENST00000498015.2_Intron|NEB_ENST00000397345.3_Splice_Site_p.S8162S|NEB_ENST00000172853.10_Splice_Site_p.S6306S	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6470					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.S8162S(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGCCAAGTACCGAGCTAATAT	0.333													False	0	False	2:152352790	0	T	152352790	C	T	152352790	5	4	88	1	0	0	0	0	0	0	1	0	10370	666	23	1	1131	1	NEB	2	152352790	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5838	152352790	90846583	2853	10565											
NEB	4703	broad.mit.edu	37	chr2	152364595	152364595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtctcataatacgacatgGacttctcagcatcttccttg	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152364595G>A	ENST00000427231.2	-	162	23577	c.23375C>T	c.(23374-23376)tCc>tTc	p.S7792F	NEB_ENST00000409198.1_Missense_Mutation_p.S6091F|NEB_ENST00000603639.1_Missense_Mutation_p.S7792F|NEB_ENST00000604864.1_Missense_Mutation_p.S7792F|NEB_ENST00000397345.3_Missense_Mutation_p.S7792F|NEB_ENST00000172853.10_Missense_Mutation_p.S6091F	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6091					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATACGACATGGACTTCTCAGC	0.418													False	0	False	2:152364595	0	A	152364595	G	A	152364595	3	1	88	1	0	0	0	0	1	0	0	0	10370	1174	41	2	2286	2	NEB	2	152364595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11805	152364595	90834778	2854	10566											
NEB	4703	broad.mit.edu	37	chr2	152381050	152381050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactggcctgtttggctgcCtgtgtggccttcttgatgtc	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152381050C>A	ENST00000427231.2	-	152	22555	c.22353G>T	c.(22351-22353)caG>caT	p.Q7451H	NEB_ENST00000409198.1_Missense_Mutation_p.Q5750H|NEB_ENST00000603639.1_Missense_Mutation_p.Q7451H|NEB_ENST00000604864.1_Missense_Mutation_p.Q7451H|NEB_ENST00000397345.3_Missense_Mutation_p.Q7451H|NEB_ENST00000172853.10_Missense_Mutation_p.Q5750H	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5750					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTTGGCTGCCTGTGTGGCCT	0.512													False	0	True	2:152381050	0	A	152381050	C	A	152381050	3	1	88	1	0	0	0	0	1	0	0	0	10370	680	24	3	3348	3	NEB	2	152381050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16455	152381050	90818323	2855	10567											
NEB	4703	broad.mit.edu	37	chr2	152419185	152419185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggttcttccagaagagaCgtccactggtggaaatagtg	13	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152419185C>T	ENST00000427231.2	-	120	19033	c.18831G>A	c.(18829-18831)acG>acA	p.T6277T	NEB_ENST00000409198.1_Silent_p.T4576T|NEB_ENST00000603639.1_Silent_p.T6277T|NEB_ENST00000604864.1_Silent_p.T6277T|NEB_ENST00000397345.3_Silent_p.T6277T|NEB_ENST00000172853.10_Silent_p.T4576T	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6286					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCAGAAGAGACGTCCACTGGT	0.483													False	0	False	2:152419185	0	T	152419185	C	T	152419185	2	4	88	1	0	0	0	0	0	0	0	1	10370	523	19	1		1	NEB	2	152419185	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38135	152419185	90780188	2856	10568											
NEB	4703	broad.mit.edu	37	chr2	152466579	152466579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgggatcatcttcaatgCtctgggctccaatgtggtgg	12	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152466579C>T	ENST00000427231.2	-	81	12276	c.12074G>A	c.(12073-12075)aGc>aAc	p.S4025N	NEB_ENST00000409198.1_Missense_Mutation_p.S3782N|NEB_ENST00000603639.1_Missense_Mutation_p.S4025N|NEB_ENST00000604864.1_Missense_Mutation_p.S4025N|NEB_ENST00000397345.3_Missense_Mutation_p.S4025N|NEB_ENST00000172853.10_Missense_Mutation_p.S3782N	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	4024					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCTTCAATGCTCTGGGCTCC	0.403													False	0	False	2:152466579	0	T	152466579	C	T	152466579	3	4	88	1	0	0	0	0	1	0	0	0	10370	797	28	2	14020	2	NEB	2	152466579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47394	152466579	90732794	2857	10569											
NEB	4703	broad.mit.edu	37	chr2	152468847	152468847	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttctcgacctctacagaGccaatgggaacccatcctat	6	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152468847G>A	ENST00000427231.2	-	78	11860	c.11658C>T	c.(11656-11658)ggC>ggT	p.G3886G	NEB_ENST00000409198.1_Silent_p.G3643G|NEB_ENST00000603639.1_Silent_p.G3886G|NEB_ENST00000604864.1_Silent_p.G3886G|NEB_ENST00000397345.3_Silent_p.G3886G|NEB_ENST00000172853.10_Silent_p.G3643G	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3886					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTCTACAGAGCCAATGGGAA	0.438													False	0	False	2:152468847	0	A	152468847	G	A	152468847	2	1	88	1	0	0	0	0	0	0	0	1	10370	958	34	2		2	NEB	2	152468847	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2268	152468847	90730526	2858	10570											
NEB	4703	broad.mit.edu	37	chr2	152471039	152471039	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatcatcttcgggtcatcCttaatgttccgggccccaat	7	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152471039C>A	ENST00000427231.2	-	77	11554	c.11352G>T	c.(11350-11352)aaG>aaT	p.K3784N	NEB_ENST00000409198.1_Missense_Mutation_p.K3541N|NEB_ENST00000603639.1_Missense_Mutation_p.K3784N|NEB_ENST00000604864.1_Missense_Mutation_p.K3784N|NEB_ENST00000397345.3_Missense_Mutation_p.K3784N|NEB_ENST00000172853.10_Missense_Mutation_p.K3541N	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3784					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGGGTCATCCTTAATGTTCC	0.458													False	0	False	2:152471039	0	A	152471039	C	A	152471039	3	1	88	1	0	0	0	0	1	0	0	0	10370	680	24	3	14758	3	NEB	2	152471039	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2192	152471039	90728334	2859	10571											
NEB	4703	broad.mit.edu	37	chr2	152506868	152506868	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcctatgcctctcagcCactcaaggtcagatttatat	5	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152506868C>T	ENST00000427231.2	-	54	7455	c.7253G>A	c.(7252-7254)tGg>tAg	p.W2418*	NEB_ENST00000409198.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W2418*|NEB_ENST00000397345.3_Nonsense_Mutation_p.W2418*|NEB_ENST00000172853.10_Nonsense_Mutation_p.W2418*	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2418					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCTCTCAGCCACTCAAGGTC	0.443													False	0	False	2:152506868	0	T	152506868	C	T	152506868	4	4	88	1	0	0	0	0	0	1	0	0	10370	595	21	2	18949	2	NEB	2	152506868	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35829	152506868	90692505	2860	10572											
NEB	4703	broad.mit.edu	37	chr2	152512680	152512680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttacatcactctgtatgCgattcatattcctggtcagc	7	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152512680C>T	ENST00000427231.2	-	49	6684	c.6482G>A	c.(6481-6483)cGc>cAc	p.R2161H	NEB_ENST00000409198.1_Missense_Mutation_p.R2161H|NEB_ENST00000603639.1_Missense_Mutation_p.R2161H|NEB_ENST00000604864.1_Missense_Mutation_p.R2161H|NEB_ENST00000397345.3_Missense_Mutation_p.R2161H|NEB_ENST00000172853.10_Missense_Mutation_p.R2161H	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2161					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTCTGTATGCGATTCATATT	0.453													False	0	False	2:152512680	0	T	152512680	C	T	152512680	3	4	88	1	0	0	0	0	1	0	0	0	10370	768	27	1	19740	1	NEB	2	152512680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5812	152512680	90686693	2861	10573											
NEB	4703	broad.mit.edu	37	chr2	152518831	152518831	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccaatgcccttcatgaagtCagcatagtcagccttgtact	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152518831C>T	ENST00000427231.2	-	46	5990	c.5788G>A	c.(5788-5790)Gac>Aac	p.D1930N	NEB_ENST00000409198.1_Missense_Mutation_p.D1930N|NEB_ENST00000603639.1_Missense_Mutation_p.D1930N|NEB_ENST00000604864.1_Missense_Mutation_p.D1930N|NEB_ENST00000397345.3_Missense_Mutation_p.D1930N|NEB_ENST00000172853.10_Missense_Mutation_p.D1930N	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	1930					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCATGAAGTCAGCATAGTCA	0.418													False	0	False	2:152518831	0	T	152518831	C	T	152518831	3	4	88	1	0	0	0	0	1	0	0	0	10370	826	29	2	20446	2	NEB	2	152518831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6151	152518831	90680542	2862	10574											
NEB	4703	broad.mit.edu	37	chr2	152520341	152520341	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggaagccaatgtgtttcccTttggcttgttcataggcttt	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152520341T>G	ENST00000427231.2	-	45	5686	c.5484A>C	c.(5482-5484)aaA>aaC	p.K1828N	NEB_ENST00000409198.1_Missense_Mutation_p.K1828N|NEB_ENST00000603639.1_Missense_Mutation_p.K1828N|NEB_ENST00000604864.1_Missense_Mutation_p.K1828N|NEB_ENST00000397345.3_Missense_Mutation_p.K1828N|NEB_ENST00000172853.10_Missense_Mutation_p.K1828N	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	1828					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGTTTCCCTTTGGCTTGTT	0.448													False	0	True	2:152520341	0	G	152520341	T	G	152520341	3	3	88	1	0	0	0	0	1	0	0	0	10370	1606	56	4	20754	4	NEB	2	152520341	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1510	152520341	90679032	2863	10575											
NEB	4703	broad.mit.edu	37	chr2	152527556	152527556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcacttagctgctttgtgTtatgctgagccaacaccatg	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152527556T>C	ENST00000427231.2	-	38	4689	c.4487A>G	c.(4486-4488)aAc>aGc	p.N1496S	NEB_ENST00000409198.1_Missense_Mutation_p.N1496S|NEB_ENST00000603639.1_Missense_Mutation_p.N1496S|NEB_ENST00000604864.1_Missense_Mutation_p.N1496S|NEB_ENST00000397345.3_Missense_Mutation_p.N1496S|NEB_ENST00000172853.10_Missense_Mutation_p.N1496S	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	1496					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGCTTTGTGTTATGCTGAGC	0.468													False	0	False	2:152527556	0	C	152527556	T	C	152527556	3	2	88	1	0	0	0	0	1	0	0	0	10370	1725	60	4	21779	4	NEB	2	152527556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7215	152527556	90671817	2864	10576											
NEB	4703	broad.mit.edu	37	chr2	152528985	152528985	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtagttgacattggtagcGacatcctgggccatctttgc	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152528985G>A	ENST00000427231.2	-	37	4399	c.4197C>T	c.(4195-4197)gtC>gtT	p.V1399V	NEB_ENST00000409198.1_Silent_p.V1399V|NEB_ENST00000603639.1_Silent_p.V1399V|NEB_ENST00000604864.1_Silent_p.V1399V|NEB_ENST00000397345.3_Silent_p.V1399V|NEB_ENST00000172853.10_Silent_p.V1399V	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	1399					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTGGTAGCGACATCCTGGG	0.458													False	0	False	2:152528985	0	A	152528985	G	A	152528985	2	1	88	1	0	0	0	0	0	0	0	1	10370	1045	37	1		1	NEB	2	152528985	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1429	152528985	90670388	2865	10577											
NEB	4703	broad.mit.edu	37	chr2	152537333	152537333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagggtgtctggatgttggcGatattttttctgtttggcaa	14	4	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152537333G>A	ENST00000427231.2	-	30	3155	c.2953C>T	c.(2953-2955)Cgc>Tgc	p.R985C	NEB_ENST00000409198.1_Missense_Mutation_p.R985C|NEB_ENST00000603639.1_Missense_Mutation_p.R985C|NEB_ENST00000604864.1_Missense_Mutation_p.R985C|NEB_ENST00000397345.3_Missense_Mutation_p.R985C|NEB_ENST00000172853.10_Missense_Mutation_p.R985C	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	985					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATGTTGGCGATATTTTTTC	0.353													False	0	False	2:152537333	0	A	152537333	G	A	152537333	3	1	88	1	0	0	0	0	1	0	0	0	10370	1058	37	1	23345	1	NEB	2	152537333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8348	152537333	90662040	2866	10578											
NEB	4703	broad.mit.edu	37	chr2	152584236	152584236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgcattttctgactgTgtgcaatgtagggggtcatg	13	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152584236T>C	ENST00000427231.2	-	5	465	c.263A>G	c.(262-264)cAc>cGc	p.H88R	NEB_ENST00000409198.1_Missense_Mutation_p.H88R|NEB_ENST00000603639.1_Missense_Mutation_p.H88R|NEB_ENST00000604864.1_Missense_Mutation_p.H88R|NEB_ENST00000397345.3_Missense_Mutation_p.H88R|NEB_ENST00000172853.10_Missense_Mutation_p.H88R	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	88					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTCTGACTGTGTGCAATGTA	0.453													False	0	True	2:152584236	0	C	152584236	T	C	152584236	3	2	88	1	0	0	0	0	1	0	0	0	10370	1696	59	4	26135	4	NEB	2	152584236	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46903	152584236	90615137	2867	10579											
STAM2	10254	broad.mit.edu	37	chr2	152992061	152992061	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaattagttgttacaaaaTtggatgggaaaagtcctatt	8	3	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152992061T>G	ENST00000263904.4	-	8	1110	c.761A>C	c.(760-762)aAt>aCt	p.N254T		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	254	SH3.			N -> D (in Ref. 2; CAB63735).	cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TGTTACAAAATTGGATGGGAA	0.303													False	0	True	2:152992061	0	G	152992061	T	G	152992061	3	3	88	1	0	0	0	0	1	0	0	0	15331	1493	52	4	844	4	STAM2	2	152992061	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	407825	152992061	90207312	2868	10580											
FMNL2	114793	broad.mit.edu	37	chr2	153476145	153476145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgagactgtaccaGctcctcccttagcacctccc	7	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:153476145G>A	ENST00000288670.9	+	15	2117	c.1750G>A	c.(1750-1752)Gct>Act	p.A584T	FMNL2_ENST00000475377.2_5'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	584	Pro-rich.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GACTGTACCAGCTCCTCCCTT	0.642													False	0	False	2:153476145	0	A	153476145	G	A	153476145	3	1	88	1	0	0	0	0	1	0	0	0	5992	971	34	2	1808	2	FMNL2	2	153476145	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	484084	153476145	89723228	2869	10581											
FMNL2	114793	broad.mit.edu	37	chr2	153484903	153484903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaagtgcttcggctctaCgagcgggaaaggaagcctct	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:153484903C>T	ENST00000288670.9	+	18	2623	c.2256C>T	c.(2254-2256)taC>taT	p.Y752Y	FMNL2_ENST00000475377.2_Silent_p.Y127Y	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	752	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TTCGGCTCTACGAGCGGGAAA	0.458													False	0	False	2:153484903	0	T	153484903	C	T	153484903	2	4	88	1	0	0	0	0	0	0	0	1	5992	547	19	1		1	FMNL2	2	153484903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8758	153484903	89714470	2870	10582											
GALNT13	114805	broad.mit.edu	37	chr2	154996996	154996996	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgattgcccttaatagaagtCtgccagatgtaagattagaa	9	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:154996996C>T	ENST00000392825.3	+	4	856	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	GALNT13_ENST00000409237.1_Silent_p.L97L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	97						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TAATAGAAGTCTGCCAGATGT	0.333													False	0	False	2:154996996	0	T	154996996	C	T	154996996	2	4	88	1	0	0	0	0	0	0	0	1	6254	912	32	2		2	GALNT13	2	154996996	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1512093	154996996	88202377	2871	10583											
GALNT13	114805	broad.mit.edu	37	chr2	155102495	155102495	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagaacattacctgtcaGgtatgtagatcatatctctt	7	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:155102495G>A	ENST00000392825.3	+	7	1424	c.857G>A	c.(856-858)aGg>aAg	p.R286K	GALNT13_ENST00000409237.1_Splice_Site_p.R286K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	286	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTACCTGTCAGGTATGTAGAT	0.343													False	0	False	2:155102495	0	A	155102495	G	A	155102495	5	1	88	1	0	0	0	0	0	0	1	0	6254	1014	35	2	875	2	GALNT13	2	155102495	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105499	155102495	88096878	2872	10584											
NR4A2	0	broad.mit.edu	37	chr2	157182425	157182425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggcggttcaaccccccaTtgttgaaagtcacgtggtct	12	11	3	1	rs146388108		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157182425T>C	ENST00000339562.4	-	8	1990	c.1628A>G	c.(1627-1629)aAt>aGt	p.N543S	NR4A2_ENST00000539077.1_Missense_Mutation_p.N554S|NR4A2_ENST00000409572.1_Missense_Mutation_p.N543S|NR4A2_ENST00000426264.1_Missense_Mutation_p.N480S|NR4A2_ENST00000429376.1_Silent_p.Q445Q|NR4A2_ENST00000409108.2_Silent_p.Q508Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	543					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CAACCCCCCATTGTTGAAAGT	0.478													False	0	False	2:157182425	0	C	157182425	T	C	157182425	3	2	88	1	0	0	0	0	1	0	0	0	10701	1493	52	4	172	4	NR4A2	2	157182425	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2079930	157182425	86016948	2873	10585											
NR4A2	0	broad.mit.edu	37	chr2	157184947	157184947	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcccaacagccaggcacttCtgaaatcggcagtactgaca	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157184947C>A	ENST00000339562.4	-	4	1325	c.963G>T	c.(961-963)caG>caT	p.Q321H	NR4A2_ENST00000539077.1_Missense_Mutation_p.Q332H|NR4A2_ENST00000409572.1_Missense_Mutation_p.Q321H|NR4A2_ENST00000426264.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000429376.1_Missense_Mutation_p.Q258H|NR4A2_ENST00000409108.2_Missense_Mutation_p.Q321H	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	321					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CCAGGCACTTCTGAAATCGGC	0.512													False	0	False	2:157184947	0	A	157184947	C	A	157184947	3	1	88	1	0	0	0	0	1	0	0	0	10701	912	32	3	853	3	NR4A2	2	157184947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2522	157184947	86014426	2874	10586											
NR4A2	0	broad.mit.edu	37	chr2	157186485	157186485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagcaaggtggcttgacgtCgtagcctgtgctgtagttgt	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157186485C>T	ENST00000339562.4	-	3	576	c.214G>A	c.(214-216)Gac>Aac	p.D72N	NR4A2_ENST00000539077.1_Missense_Mutation_p.D83N|NR4A2_ENST00000409572.1_Missense_Mutation_p.D72N|NR4A2_ENST00000426264.1_Missense_Mutation_p.D9N|NR4A2_ENST00000429376.1_Missense_Mutation_p.D9N|NR4A2_ENST00000409108.2_Missense_Mutation_p.D72N	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	72					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGCTTGACGTCGTAGCCTGTG	0.498													False	0	False	2:157186485	0	T	157186485	C	T	157186485	3	4	88	1	0	0	0	0	1	0	0	0	10701	884	31	1	1606	1	NR4A2	2	157186485	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1538	157186485	86012888	2875	10587											
GALNT5	11227	broad.mit.edu	37	chr2	158115418	158115418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacacaaagccaatacgaGtcttccttttcctaagttca	4	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158115418G>A	ENST00000259056.4	+	1	1309	c.824G>A	c.(823-825)aGt>aAt	p.S275N		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	275				NTS -> AEG (in Ref. 2).	glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCCAATACGAGTCTTCCTTTT	0.423													False	0	False	2:158115418	0	A	158115418	G	A	158115418	3	1	88	1	0	0	0	0	1	0	0	0	6259	1029	36	2	826	2	GALNT5	2	158115418	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	928933	158115418	85083955	2876	10588											
GALNT5	11227	broad.mit.edu	37	chr2	158115529	158115529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctagaggggctcatgGgaagaaactcaatttctctg	13	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158115529G>A	ENST00000259056.4	+	1	1420	c.935G>A	c.(934-936)gGg>gAg	p.G312E		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	312					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGGGCTCATGGGAAGAAACTC	0.403													False	0	True	2:158115529	0	A	158115529	G	A	158115529	3	1	88	1	0	0	0	0	1	0	0	0	6259	1232	43	2	937	2	GALNT5	2	158115529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	158115529	85083844	2877	10589											
ACVR1C	130399	broad.mit.edu	37	chr2	158399284	158399284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattgaatcatgcttcacaGccaaccctaagtccgctatg	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158399284G>A	ENST00000243349.8	-	6	1394	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	ACVR1C_ENST00000335450.7_Missense_Mutation_p.A265V|ACVR1C_ENST00000409680.3_Missense_Mutation_p.A295V|ACVR1C_ENST00000348328.5_Missense_Mutation_p.A188V	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC		Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATGCTTCACAGCCAACCCTAA	0.408													False	0	False	2:158399284	0	A	158399284	G	A	158399284	3	1	88	1	0	0	0	0	1	0	0	0	222	971	34	2	463	2	ACVR1C	2	158399284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	283755	158399284	84800089	2878	10590											
UPP2	151531	broad.mit.edu	37	chr2	158958634	158958634	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgacaggaatacatatgTtgggtgagtaattttgattt	10	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158958634T>C	ENST00000605860.1	+	4	276	c.230T>C	c.(229-231)gTt>gCt	p.V77A	UPP2_ENST00000005756.4_Missense_Mutation_p.V20A|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.V77A			O95045	UPP2_HUMAN	uridine phosphorylase 2	20					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AATACATATGTTGGGTGAGTA	0.353													False	0	False	2:158958634	0	C	158958634	T	C	158958634	3	2	88	1	0	0	0	0	1	0	0	0	17097	1725	60	4	240	4	UPP2	2	158958634	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	559350	158958634	84240739	2879	10591											
PKP4	8502	broad.mit.edu	37	chr2	159535158	159535158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaagagaacaaaatagaCggctacaggtgaatttgcaa	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:159535158C>T	ENST00000389757.3	+	20	3318	c.3193C>T	c.(3193-3195)Cgg>Tgg	p.R1065W	PKP4_ENST00000389759.3_Missense_Mutation_p.R1108W|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	1108					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACAAAATAGACGGCTACAGGT	0.403										HNSCC(62;0.18)			False	0	False	2:159535158	0	T	159535158	C	T	159535158	3	4	88	1	0	0	0	0	1	0	0	0	12056	527	19	1	3400	1	PKP4	2	159535158	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	576524	159535158	83664215	2880	10592											
PKP4	8502	broad.mit.edu	37	chr2	159537009	159537009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcatacagattgtatttGcagtctcctcatagctatga	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:159537009G>A	ENST00000389757.3	+	21	3395	c.3270G>A	c.(3268-3270)ttG>ttA	p.L1090L	AC005042.4_ENST00000442666.1_RNA|PKP4_ENST00000389759.3_Silent_p.L1133L|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	1133					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GATTGTATTTGCAGTCTCCTC	0.363										HNSCC(62;0.18)			False	0	True	2:159537009	0	A	159537009	G	A	159537009	2	1	88	1	0	0	0	0	0	0	0	1	12056	1310	46	2		2	PKP4	2	159537009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1851	159537009	83662364	2881	10593											
TANC1	85461	broad.mit.edu	37	chr2	160019849	160019849	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggctccagtttggaatgGaataaagatggaaacctaag	12	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160019849G>A	ENST00000263635.6	+	8	975	c.738G>A	c.(736-738)tgG>tgA	p.W246*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.W140*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	246						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GTTTGGAATGGAATAAAGATG	0.488													False	0	True	2:160019849	0	A	160019849	G	A	160019849	4	1	88	1	0	0	0	0	0	1	0	0	15626	1183	41	2	760	2	TANC1	2	160019849	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	482840	160019849	83179524	2882	10594											
TANC1	85461	broad.mit.edu	37	chr2	160020017	160020017	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcccttattctcagggCtccagctcactaataatgcc	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160020017C>A	ENST00000263635.6	+	8	1143	c.906C>A	c.(904-906)ggC>ggA	p.G302G	TANC1_ENST00000454300.1_Silent_p.G196G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	302						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATTCTCAGGGCTCCAGCTCAC	0.562													False	0	True	2:160020017	0	A	160020017	C	A	160020017	2	1	88	1	0	0	0	0	0	0	0	1	15626	784	28	3		3	TANC1	2	160020017	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	160020017	83179356	2883	10595											
TANC1	85461	broad.mit.edu	37	chr2	160031536	160031536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagtttgtgcacagcatcGcagctttgctctgccggtcc	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160031536G>A	ENST00000263635.6	+	12	1813	c.1576G>A	c.(1576-1578)Gca>Aca	p.A526T	TANC1_ENST00000454300.1_Missense_Mutation_p.A420T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	526						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCACAGCATCGCAGCTTTGCT	0.582													False	0	False	2:160031536	0	A	160031536	G	A	160031536	3	1	88	1	0	0	0	0	1	0	0	0	15626	1087	38	1	1614	1	TANC1	2	160031536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11519	160031536	83167837	2884	10596											
TANC1	85461	broad.mit.edu	37	chr2	160043449	160043449	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgggaatttcttcaagccatCtccaagccctgtggatcggc	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160043449C>A	ENST00000263635.6	+	16	2893	c.2656C>A	c.(2656-2658)Ctc>Atc	p.L886I	TANC1_ENST00000454300.1_Missense_Mutation_p.L780I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	886						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTCAAGCCATCTCCAAGCCCT	0.537													False	0	False	2:160043449	0	A	160043449	C	A	160043449	3	1	88	1	0	0	0	0	1	0	0	0	15626	913	32	3	2710	3	TANC1	2	160043449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11913	160043449	83155924	2885	10597											
TANC1	85461	broad.mit.edu	37	chr2	160074011	160074011	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgactttcctttagcccTgactgccgccgcaggaagag	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160074011T>G	ENST00000263635.6	+	20	3485	c.3248T>G	c.(3247-3249)cTg>cGg	p.L1083R	TANC1_ENST00000454300.1_Missense_Mutation_p.L977R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1083						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTTTAGCCCTGACTGCCGCC	0.562													False	0	True	2:160074011	0	G	160074011	T	G	160074011	3	3	88	1	0	0	0	0	1	0	0	0	15626	1580	55	4	3318	4	TANC1	2	160074011	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30562	160074011	83125362	2886	10598											
TANC1	85461	broad.mit.edu	37	chr2	160084456	160084456	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctatctcaatttgtcgCgatgccgaagaaaaacaaat	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160084456C>T	ENST00000263635.6	+	25	4267	c.4030C>T	c.(4030-4032)Cga>Tga	p.R1344*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.R1238*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1344						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAATTTGTCGCGATGCCGAAG	0.483													False	0	False	2:160084456	0	T	160084456	C	T	160084456	4	4	88	1	0	0	0	0	0	1	0	0	15626	760	27	1	4120	1	TANC1	2	160084456	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10445	160084456	83114917	2887	10599											
TANC1	85461	broad.mit.edu	37	chr2	160086401	160086401	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgtcccttcctcatacatCcgaaaccttcaagaagggtt	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160086401C>T	ENST00000263635.6	+	27	4701	c.4464C>T	c.(4462-4464)atC>atT	p.I1488I	TANC1_ENST00000454300.1_Silent_p.I1382I	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1488						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTCATACATCCGAAACCTTC	0.552													False	0	False	2:160086401	0	T	160086401	C	T	160086401	2	4	88	1	0	0	0	0	0	0	0	1	15626	845	30	2		2	TANC1	2	160086401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1945	160086401	83112972	2888	10600											
WDSUB1	151525	broad.mit.edu	37	chr2	160112844	160112844	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagacatcctcctctgacCaatcttcggtaaattgcttc	6	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160112844C>T	ENST00000409990.3	-	9	1251	c.995G>A	c.(994-996)tGg>tAg	p.W332*	WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.W332*|WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.W240*	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	332	SAM.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						CTCCTCTGACCAATCTTCGGT	0.333													False	0	False	2:160112844	0	T	160112844	C	T	160112844	4	4	88	1	0	0	0	0	0	1	0	0	17425	595	21	2	447	2	WDSUB1	2	160112844	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26443	160112844	83086529	2889	10601											
BAZ2B	29994	broad.mit.edu	37	chr2	160243016	160243016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatattcacatcaaagcccaAaactttaccaaagtttcgta	3	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160243016A>C	ENST00000392783.2	-	22	3814	c.3319T>G	c.(3319-3321)Ttg>Gtg	p.L1107V	AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1007V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1073V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1071V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1107	DDT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCAAAGCCCAAAACTTTACCA	0.423													False	0	True	2:160243016	0	C	160243016	A	C	160243016	3	2	88	1	0	0	0	0	1	0	0	0	1336	11	1	4	3251	4	BAZ2B	2	160243016	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	130172	160243016	82956357	2890	10602											
BAZ2B	29994	broad.mit.edu	37	chr2	160287620	160287620	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggtctttatcatcatcatCttcttcttctgatccttctg	4	11	9	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160287620C>A	ENST00000392783.2	-	10	2443	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y	BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D650Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D648Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	650	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCATCATCATCTTCTTCTTCT	0.323													False	0	True	2:160287620	0	A	160287620	C	A	160287620	3	1	88	1	0	0	0	0	1	0	0	0	1336	913	32	3	4670	3	BAZ2B	2	160287620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44604	160287620	82911753	2891	10603											
BAZ2B	29994	broad.mit.edu	37	chr2	160289445	160289445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgatgctgtgtttttaCtgggtttacattattgctaa	11	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160289445C>T	ENST00000392783.2	-	9	2218	c.1723G>A	c.(1723-1725)Gta>Ata	p.V575I	BAZ2B_ENST00000343439.5_Missense_Mutation_p.V573I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.V575I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.V573I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGTGTTTTTACTGGGTTTACA	0.428													False	0	False	2:160289445	0	T	160289445	C	T	160289445	3	4	88	1	0	0	0	0	1	0	0	0	1336	565	20	2	4899	2	BAZ2B	2	160289445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1825	160289445	82909928	2892	10604											
BAZ2B	29994	broad.mit.edu	37	chr2	160295624	160295624	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatcttcttctagatcatCtgaatcactgctactaatgc	4	11	7	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160295624C>A	ENST00000392783.2	-	7	1291	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	BAZ2B_ENST00000343439.5_Missense_Mutation_p.D264Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D266Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D264Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						tctAGATCATCTGAATCACTG	0.373													False	0	False	2:160295624	0	A	160295624	C	A	160295624	3	1	88	1	0	0	0	0	1	0	0	0	1336	913	32	3	5834	3	BAZ2B	2	160295624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6179	160295624	82903749	2893	10605											
BAZ2B	29994	broad.mit.edu	37	chr2	160304770	160304770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacctttttcgggaccatttCgattactttttcccgaagtc	6	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160304770C>T	ENST00000392783.2	-	5	980	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	BAZ2B_ENST00000343439.5_Missense_Mutation_p.R160Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R162Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R160Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	162	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GGGACCATTTCGATTACTTTT	0.353													False	0	True	2:160304770	0	T	160304770	C	T	160304770	3	4	88	1	0	0	0	0	1	0	0	0	1336	884	31	1	6153	1	BAZ2B	2	160304770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9146	160304770	82894603	2894	10606											
LY75	4065	broad.mit.edu	37	chr2	160676380	160676380	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttatagttggtcttcctgctCtccaatgtgtatatgacagt	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160676380C>T	ENST00000263636.4	-	29	4037	c.4010G>A	c.(4009-4011)aGa>aAa	p.R1337K	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1337K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R1337K|LY75_ENST00000554112.1_Missense_Mutation_p.R1337K|LY75_ENST00000553424.1_Missense_Mutation_p.R1337K	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TCTTCCTGCTCTCCAATGTGT	0.353													False	0	False	2:160676380	0	T	160676380	C	T	160676380	3	4	88	1	0	0	0	0	1	0	0	0	9162	913	32	2	1186	2	LY75	2	160676380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	371610	160676380	82522993	2895	10607											
LY75	4065	broad.mit.edu	37	chr2	160741799	160741799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctatagtaggtgcactggGcctgtcttaaaagggaacat	11	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160741799G>A	ENST00000263636.4	-	6	946	c.919C>T	c.(919-921)Ccc>Tcc	p.P307S	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P307S|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P307S|LY75_ENST00000554112.1_Missense_Mutation_p.P307S|LY75_ENST00000553424.1_Missense_Mutation_p.P307S	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GGTGCACTGGGCCTGTCTTAA	0.433													False	0	True	2:160741799	0	A	160741799	G	A	160741799	3	1	88	1	0	0	0	0	1	0	0	0	9162	1203	42	2	4369	2	LY75	2	160741799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65419	160741799	82457574	2896	10608											
PLA2R1	0	broad.mit.edu	37	chr2	160825793	160825793	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tagaagaaataaagccacatCtctggctctgattattcaca	6	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160825793C>T	ENST00000283243.7	-	19	2944	c.2738G>A	c.(2737-2739)aGa>aAa	p.R913K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R913K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	913	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAAGCCACATCTCTGGCTCTG	0.363													False	0	False	2:160825793	0	T	160825793	C	T	160825793	3	4	88	1	0	0	0	0	1	0	0	0	12079	913	32	2	1709	2	PLA2R1	2	160825793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83994	160825793	82373580	2897	10609											
ITGB6	3694	broad.mit.edu	37	chr2	161029111	161029111	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatggagtattcattcttgCtgtccaagtgacagagcccg	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161029111C>A	ENST00000283249.2	-	6	1127	c.890G>T	c.(889-891)aGc>aTc	p.S297I	ITGB6_ENST00000409872.1_Missense_Mutation_p.S297I|ITGB6_ENST00000409967.2_Missense_Mutation_p.S297I|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Missense_Mutation_p.S255I	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	297	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCATTCTTGCTGTCCAAGTG	0.448													False	0	False	2:161029111	0	A	161029111	C	A	161029111	3	1	88	1	0	0	0	0	1	0	0	0	7949	797	28	3	1516	3	ITGB6	2	161029111	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203318	161029111	82170262	2898	10610											
RBMS1	5937	broad.mit.edu	37	chr2	161223761	161223761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaggtcctggtcggtggTgtggggaggcagtcctcgga	18	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161223761T>C	ENST00000348849.3	-	2	647	c.217A>G	c.(217-219)Acc>Gcc	p.T73A	RBMS1_ENST00000392753.3_Missense_Mutation_p.T73A|RBMS1_ENST00000409075.1_Missense_Mutation_p.T40A|RBMS1_ENST00000409972.1_Missense_Mutation_p.T40A|RBMS1_ENST00000409289.2_Missense_Mutation_p.T40A|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	73	RRM 1.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								TGGTCGGTGGTGTGGGGAGGC	0.453													False	0	False	2:161223761	0	C	161223761	T	C	161223761	3	2	88	1	0	0	0	0	1	0	0	0	13227	1696	59	4	1051	4	RBMS1	2	161223761	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	194650	161223761	81975612	2899	10611											
TBR1	10716	broad.mit.edu	37	chr2	162273024	162273024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggatccgagcttgtcttgCacgatcatcccattatctcg	9	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162273024C>T	ENST00000389554.3	+	1	420	c.103C>T	c.(103-105)Cac>Tac	p.H35Y		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	35						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GCTTGTCTTGCACGATCATCC	0.468													False	0	False	2:162273024	0	T	162273024	C	T	162273024	3	4	88	1	0	0	0	0	1	0	0	0	15729	710	25	2	105	2	TBR1	2	162273024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1049263	162273024	80926349	2900	10612											
TBR1	10716	broad.mit.edu	37	chr2	162273383	162273383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacccggtcatcaccaaCggagcctacaacagcctcct	6	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162273383C>T	ENST00000389554.3	+	1	779	c.462C>T	c.(460-462)aaC>aaT	p.N154N		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	154						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.N154N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TCATCACCAACGGAGCCTACA	0.672													False	0	False	2:162273383	0	T	162273383	C	T	162273383	2	4	88	1	0	0	0	0	0	0	0	1	15729	535	19	1		1	TBR1	2	162273383	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	359	162273383	80925990	2901	10613											
SLC4A10	57282	broad.mit.edu	37	chr2	162813580	162813580	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcatgggcctgccatggtttGtggctgccacagtcctctcc	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162813580G>C	ENST00000375514.5	+	20	2853	c.2566G>C	c.(2566-2568)Gtg>Ctg	p.V856L	SLC4A10_ENST00000421911.1_Missense_Mutation_p.V875L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.V845L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.V845L|SLC4A10_ENST00000446997.1_Missense_Mutation_p.V875L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	875					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCCATGGTTTGTGGCTGCCAC	0.473													False	0	True	2:162813580	0	C	162813580	G	C	162813580	3	2	88	1	0	0	0	0	1	0	0	0	14731	1377	48	5	2786	5	SLC4A10	2	162813580	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	540197	162813580	80385793	2902	10614											
SLC4A10	57282	broad.mit.edu	37	chr2	162833294	162833294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatccatctgtgatcaatatAtctgatgaaatgtcaaagac	7	7	4	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162833294A>G	ENST00000375514.5	+	25	3482	c.3195A>G	c.(3193-3195)atA>atG	p.I1065M	SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000272716.5_Missense_Mutation_p.I1054M|SLC4A10_ENST00000415876.2_Missense_Mutation_p.I1054M|SLC4A10_ENST00000446997.1_Missense_Mutation_p.I1084M	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1084					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGATCAATATATCTGATGAAA	0.358													False	0	True	2:162833294	0	G	162833294	A	G	162833294	3	3	88	1	0	0	0	0	1	0	0	0	14731	439	16	4	3435	4	SLC4A10	2	162833294	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19714	162833294	80366079	2903	10615											
SLC4A10	57282	broad.mit.edu	37	chr2	162833344	162833344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaccttctgattactgCcgataactcaaaagataagg	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162833344C>T	ENST00000375514.5	+	25	3532	c.3245C>T	c.(3244-3246)gCc>gTc	p.A1082V	SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000272716.5_Missense_Mutation_p.A1071V|SLC4A10_ENST00000415876.2_Missense_Mutation_p.A1071V|SLC4A10_ENST00000446997.1_Missense_Mutation_p.A1101V	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1101					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTGATTACTGCCGATAACTCA	0.343													False	0	False	2:162833344	0	T	162833344	C	T	162833344	3	4	88	1	0	0	0	0	1	0	0	0	14731	739	26	2	3485	2	SLC4A10	2	162833344	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50	162833344	80366029	2904	10616											
SLC4A10	57282	broad.mit.edu	37	chr2	162834231	162834231	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattacatttttgtcataaGctccccttcctaatcactct	2	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162834231G>A	ENST00000375514.5	+	26	3574		c.e26-1		SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000272716.5_Intron|SLC4A10_ENST00000415876.2_Splice_Site|SLC4A10_ENST00000446997.1_Splice_Site	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10						bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTTGTCATAAGCTCCCCTTCC	0.328													False	0	False	2:162834231	0	A	162834231	G	A	162834231	5	1	88	1	0	0	0	0	0	0	1	0	14731	985	34	2	3531	2	SLC4A10	2	162834231	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	887	162834231	80365142	2905	10617											
DPP4	1803	broad.mit.edu	37	chr2	162862277	162862277	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatggtcaaggttgtctTctggagttgggagacccatg	14	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162862277T>G	ENST00000360534.3	-	23	2590	c.2030A>C	c.(2029-2031)gAa>gCa	p.E677A	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	677					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	AAGGTTGTCTTCTGGAGTTGG	0.318													False	0	False	2:162862277	0	G	162862277	T	G	162862277	3	3	88	1	0	0	0	0	1	0	0	0	4759	1783	62	4	286	4	DPP4	2	162862277	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28046	162862277	80337096	2906	10618											
DPP4	1803	broad.mit.edu	37	chr2	162865071	162865071	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctggcagcaattacataCcatagtactcccaccgggat	7	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162865071C>T	ENST00000360534.3	-	22	2548		c.e22+1		DPP4_ENST00000491591.1_Splice_Site	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4						cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	CAATTACATACCATAGTACTC	0.478													False	0	False	2:162865071	0	T	162865071	C	T	162865071	5	4	88	1	0	0	0	0	0	0	1	0	4759	521	18	2	332	2	DPP4	2	162865071	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2794	162865071	80334302	2907	10619											
GCG	2641	broad.mit.edu	37	chr2	163003925	163003925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgcctggagtccagataCttgctgtagtcactggtgaa	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163003925C>T	ENST00000418842.2	-	3	446	c.192G>A	c.(190-192)aaG>aaA	p.K64K	GCG_ENST00000375497.3_Silent_p.K64K	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	64					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	AGTCCAGATACTTGCTGTAGT	0.483													False	0	False	2:163003925	0	T	163003925	C	T	163003925	2	4	88	1	0	0	0	0	0	0	0	1	6333	564	20	2		2	GCG	2	163003925	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138854	163003925	80195448	2908	10620											
FAP	2191	broad.mit.edu	37	chr2	163082066	163082066	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtactatattgttatctgcaGattgatgaagatattcttgt	8	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163082066G>A	ENST00000188790.4	-	4	419	c.212C>T	c.(211-213)tCt>tTt	p.S71F	FAP_ENST00000443424.1_Missense_Mutation_p.S71F	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	71					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GTTATCTGCAGATTGATGAAG	0.299													False	0	False	2:163082066	0	A	163082066	G	A	163082066	3	1	88	1	0	0	0	0	1	0	0	0	5713	942	33	2	2162	2	FAP	2	163082066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78141	163082066	80117307	2909	10621											
IFIH1	64135	broad.mit.edu	37	chr2	163124694	163124694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttttgcaaaggaaagTtattagtgatgggttattct	11	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163124694T>C	ENST00000263642.2	-	14	3105	c.2710A>G	c.(2710-2712)Act>Gct	p.T904A		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	904					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CAAAGGAAAGTTATTAGTGAT	0.363													False	0	False	2:163124694	0	C	163124694	T	C	163124694	3	2	88	1	0	0	0	0	1	0	0	0	7570	1725	60	4	379	4	IFIH1	2	163124694	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42628	163124694	80074679	2910	10622											
IFIH1	64135	broad.mit.edu	37	chr2	163130398	163130398	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttctgccactgtggtagcGataagcagatttatttttcc	8	9	2	1	rs35677292		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163130398G>A	ENST00000263642.2	-	12	2756	c.2361C>T	c.(2359-2361)atC>atT	p.I787I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	787	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CTGTGGTAGCGATAAGCAGAT	0.338													False	0	False	2:163130398	0	A	163130398	G	A	163130398	2	1	88	1	0	0	0	0	0	0	0	1	7570	1048	37	1		1	IFIH1	2	163130398	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5704	163130398	80068975	2911	10623											
IFIH1	64135	broad.mit.edu	37	chr2	163134176	163134176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatgttctgcacaaacaCgttctttgcgatttccttct	5	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163134176C>T	ENST00000263642.2	-	10	2188	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	598				R -> S (in Ref. 2; AAG54076).	detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGCACAAACACGTTCTTTGCG	0.333													False	0	False	2:163134176	0	T	163134176	C	T	163134176	3	4	88	1	0	0	0	0	1	0	0	0	7570	536	19	1	1312	1	IFIH1	2	163134176	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3778	163134176	80065197	2912	10624											
IFIH1	64135	broad.mit.edu	37	chr2	163174679	163174679	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaggtggcgactgtcctctGaatctgctccttcacctctg	11	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163174679G>A	ENST00000263642.2	-	1	534	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	IFIH1_ENST00000421365.2_Nonsense_Mutation_p.Q47*	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	47	CARD 1.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ACTGTCCTCTGAATCTGCTCC	0.562													False	0	False	2:163174679	0	A	163174679	G	A	163174679	4	1	88	1	0	0	0	0	0	1	0	0	7570	1299	45	2	3002	2	IFIH1	2	163174679	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40503	163174679	80024694	2913	10625											
KCNH7	90134	broad.mit.edu	37	chr2	163256740	163256740	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catctttgagaatttcaatgGagcctctggataagaaataa	8	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163256740G>T	ENST00000332142.5	-	10	2465	c.2366C>A	c.(2365-2367)tCc>tAc	p.S789Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	789					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AATTTCAATGGAGCCTCTGGA	0.438													False	0	False	2:163256740	0	T	163256740	G	T	163256740	3	4	88	1	0	0	0	0	1	0	0	0	8087	1174	41	3	1252	3	KCNH7	2	163256740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82061	163256740	79942633	2914	10626											
KCNH7	90134	broad.mit.edu	37	chr2	163279902	163279902	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgctggaaatattcttcaaGacgttgcctcagagggttgg	13	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163279902G>A	ENST00000332142.5	-	9	2197	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	KCNH7_ENST00000328032.4_Missense_Mutation_p.L693F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	700					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.L700I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TATTCTTCAAGACGTTGCCTC	0.453													False	0	False	2:163279902	0	A	163279902	G	A	163279902	3	1	88	1	0	0	0	0	1	0	0	0	8087	942	33	2	1590	2	KCNH7	2	163279902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23162	163279902	79919471	2915	10627											
KCNH7	90134	broad.mit.edu	37	chr2	163374395	163374395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagcatgtcagggtagagtCggtcccattgccttttggga	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163374395C>T	ENST00000332142.5	-	4	836	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.R246Q|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	246					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.R246Q(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AGGGTAGAGTCGGTCCCATTG	0.478													False	0	False	2:163374395	0	T	163374395	C	T	163374395	3	4	88	1	0	0	0	0	1	0	0	0	8087	884	31	1	2971	1	KCNH7	2	163374395	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94493	163374395	79824978	2916	10628											
KCNH7	90134	broad.mit.edu	37	chr2	163693155	163693155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgggtccatggagaaagtCgcaggtgcatggcttttgca	14	9	0	1	rs138091231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163693155C>T	ENST00000332142.5	-	2	298	c.199G>A	c.(199-201)Gac>Aac	p.D67N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D67N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	67	PAS.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGGAGAAAGTCGCAGGTGCAT	0.507													False	0	False	2:163693155	0	T	163693155	C	T	163693155	3	4	88	1	0	0	0	0	1	0	0	0	8087	884	31	1	3517	1	KCNH7	2	163693155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	318760	163693155	79506218	2917	10629											
FIGN	55137	broad.mit.edu	37	chr2	164466940	164466940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggttaccaggtcgatgaGgtgcgtgtcagtattcttca	12	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:164466940G>A	ENST00000333129.3	-	3	1716	c.1402C>T	c.(1402-1404)Ctc>Ttc	p.L468F	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	468						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AGGTCGATGAGGTGCGTGTCA	0.532													False	0	False	2:164466940	0	A	164466940	G	A	164466940	3	1	88	1	0	0	0	0	1	0	0	0	5931	1000	35	2	881	2	FIGN	2	164466940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	773785	164466940	78732433	2918	10630											
FIGN	55137	broad.mit.edu	37	chr2	164468186	164468186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcatcattcgcccaggcGtactgataggtgcgctgcag	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:164468186G>A	ENST00000333129.3	-	3	470	c.156C>T	c.(154-156)taC>taT	p.Y52Y	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	52						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCGCCCAGGCGTACTGATAGG	0.507													False	0	False	2:164468186	0	A	164468186	G	A	164468186	2	1	88	1	0	0	0	0	0	0	0	1	5931	1140	40	1		1	FIGN	2	164468186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1246	164468186	78731187	2919	10631											
GRB14	2888	broad.mit.edu	37	chr2	165353553	165353553	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaataatcaatcgctgAgcctcatctctagaaatttt	6	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165353553A>G	ENST00000263915.3	-	12	1885	c.1347T>C	c.(1345-1347)gcT>gcC	p.A449A	GRB14_ENST00000497306.1_5'UTR|GRB14_ENST00000543549.1_Silent_p.A362A	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	449	SH2.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAATCGCTGAGCCTCATCTC	0.383													False	0	False	2:165353553	0	G	165353553	A	G	165353553	2	3	88	1	0	0	0	0	0	0	0	1	6804	291	11	4		4	GRB14	2	165353553	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	885367	165353553	77845820	2920	10632											
GRB14	2888	broad.mit.edu	37	chr2	165404219	165404219	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtccagctgtggtcatcAatgtaatgattcttcaggat	11	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165404219A>G	ENST00000263915.3	-	3	970	c.432T>C	c.(430-432)atT>atC	p.I144I	GRB14_ENST00000543549.1_Silent_p.I57I	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	144	Ras-associating.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGTGGTCATCAATGTAATGAT	0.428													False	0	False	2:165404219	0	G	165404219	A	G	165404219	2	3	88	1	0	0	0	0	0	0	0	1	6804	126	5	4		4	GRB14	2	165404219	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50666	165404219	77795154	2921	10633											
COBLL1	22837	broad.mit.edu	37	chr2	165551408	165551408	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaaggagctgtgccagtgtCtcttgtcattttgggagcag	13	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165551408C>T	ENST00000375458.2	-	11	2715	c.2494G>A	c.(2494-2496)Gac>Aac	p.D832N	COBLL1_ENST00000342193.4_Missense_Mutation_p.D870N|COBLL1_ENST00000194871.6_Missense_Mutation_p.D937N|COBLL1_ENST00000409184.3_Missense_Mutation_p.D870N|COBLL1_ENST00000392717.2_Missense_Mutation_p.D908N	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	908										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTGCCAGTGTCTCTTGTCATT	0.448													False	0	False	2:165551408	0	T	165551408	C	T	165551408	3	4	88	1	0	0	0	0	1	0	0	0	3677	913	32	2	904	2	COBLL1	2	165551408	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147189	165551408	77647965	2922	10634											
SCN3A	6328	broad.mit.edu	37	chr2	166019220	166019220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacatttattcctcagattGcccatgaacagctgcagccc	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166019220G>A	ENST00000360093.3	-	8	1304	c.813C>T	c.(811-813)ggC>ggT	p.G271G	SCN3A_ENST00000409101.3_Silent_p.G271G|SCN3A_ENST00000283254.7_Silent_p.G271G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	271						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCCTCAGATTGCCCATGAACA	0.473													False	0	True	2:166019220	0	A	166019220	G	A	166019220	2	1	88	1	0	0	0	0	0	0	0	1	13999	1306	46	2		2	SCN3A	2	166019220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	467812	166019220	77180153	2923	10635											
SCN2A	6326	broad.mit.edu	37	chr2	166231251	166231251	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatgaatgtacttctggtTtgtctgatcttttggctaat	8	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231251T>G	ENST00000375437.2	+	22	4319	c.4029T>G	c.(4027-4029)gtT>gtG	p.V1343V	SCN2A_ENST00000283256.6_Silent_p.V1343V|SCN2A_ENST00000357398.3_Silent_p.V1343V|SCN2A_ENST00000375427.2_Silent_p.V1343V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1343					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TACTTCTGGTTTGTCTGATCT	0.378													False	0	True	2:166231251	0	G	166231251	T	G	166231251	2	3	88	1	0	0	0	0	0	0	0	1	13997	1828	64	4		4	SCN2A	2	166231251	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	212031	166231251	76968122	2924	10636											
SCN2A	6326	broad.mit.edu	37	chr2	166231448	166231448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtaaactttgataacgtagGacttggatatctgtctctac	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231448G>T	ENST00000375437.2	+	22	4516	c.4226G>T	c.(4225-4227)gGa>gTa	p.G1409V	SCN2A_ENST00000283256.6_Missense_Mutation_p.G1409V|SCN2A_ENST00000357398.3_Missense_Mutation_p.G1409V|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1409V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1409					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GATAACGTAGGACTTGGATAT	0.348													False	0	False	2:166231448	0	T	166231448	G	T	166231448	3	4	88	1	0	0	0	0	1	0	0	0	13997	1174	41	3	4404	3	SCN2A	2	166231448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197	166231448	76967925	2925	10637											
SCN2A	6326	broad.mit.edu	37	chr2	166243340	166243340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcatctgccttaacatgGtcaccatgatggtggaaacc	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166243340G>A	ENST00000375437.2	+	26	4926	c.4636G>A	c.(4636-4638)Gtc>Atc	p.V1546I	SCN2A_ENST00000283256.6_Missense_Mutation_p.V1546I|SCN2A_ENST00000357398.3_Missense_Mutation_p.V1546I|SCN2A_ENST00000375427.2_Missense_Mutation_p.V1546I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1546					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCTTAACATGGTCACCATGAT	0.373													False	0	False	2:166243340	0	A	166243340	G	A	166243340	3	1	88	1	0	0	0	0	1	0	0	0	13997	1261	44	2	4830	2	SCN2A	2	166243340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11892	166243340	76956033	2926	10638											
CSRNP3	80034	broad.mit.edu	37	chr2	166535367	166535367	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagagcagcaaatccccacgCtgaatggctgccacagtgag	12	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166535367C>A	ENST00000314499.7	+	7	1238	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	CSRNP3_ENST00000409420.1_Missense_Mutation_p.L320M|CSRNP3_ENST00000342316.4_Missense_Mutation_p.L288M	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	288					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AATCCCCACGCTGAATGGCTG	0.438													False	0	False	2:166535367	0	A	166535367	C	A	166535367	3	1	88	1	0	0	0	0	1	0	0	0	3990	796	28	3	876	3	CSRNP3	2	166535367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	292027	166535367	76664006	2927	10639											
TTC21B	79809	broad.mit.edu	37	chr2	166740357	166740357	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgccatgtcatattttgCtgattgaatgtaaatatcag	7	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166740357C>A	ENST00000243344.7	-	26	3768	c.3631G>T	c.(3631-3633)Gca>Tca	p.A1211S	TTC21B_ENST00000536175.1_Missense_Mutation_p.A149S	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1211						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCATATTTTGCTGATTGAATG	0.368													False	0	False	2:166740357	0	A	166740357	C	A	166740357	3	1	88	1	0	0	0	0	1	0	0	0	16772	797	28	3	335	3	TTC21B	2	166740357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204990	166740357	76459016	2928	10640											
TTC21B	79809	broad.mit.edu	37	chr2	166785764	166785764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgaaaagtgagtgtccaGgacatcatttaacaaattaa	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166785764G>T	ENST00000243344.7	-	11	1404	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	423						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGAGTGTCCAGGACATCATTT	0.303													False	0	False	2:166785764	0	T	166785764	G	T	166785764	3	4	88	1	0	0	0	0	1	0	0	0	16772	991	35	3	2759	3	TTC21B	2	166785764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45407	166785764	76413609	2929	10641											
TTC21B	79809	broad.mit.edu	37	chr2	166805950	166805950	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatatcagtgcaagtagagaAcaaagtgatacatcttgttt	8	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166805950A>G	ENST00000243344.7	-	3	353	c.216T>C	c.(214-216)tgT>tgC	p.C72C	AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	72						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAAGTAGAGAACAAAGTGATA	0.299													False	0	False	2:166805950	0	G	166805950	A	G	166805950	2	3	88	1	0	0	0	0	0	0	0	1	16772	41	2	4		4	TTC21B	2	166805950	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20186	166805950	76393423	2930	10642											
SCN1A	6323	broad.mit.edu	37	chr2	166848102	166848102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccttggaaggattggaagCcatgaatcgctcttccatct	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166848102C>T	ENST00000423058.2	-	26	5700	c.5683G>A	c.(5683-5685)Gct>Act	p.A1895T	SCN1A_ENST00000375405.3_Missense_Mutation_p.A1884T|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.A1895T|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1867T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1895						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGATTGGAAGCCATGAATCGC	0.428													False	0	False	2:166848102	0	T	166848102	C	T	166848102	3	4	88	1	0	0	0	0	1	0	0	0	13995	739	26	2	350	2	SCN1A	2	166848102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42152	166848102	76351271	2931	10643											
SCN1A	6323	broad.mit.edu	37	chr2	166848892	166848892	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcactcggaacagggtaggGgacacgaaatacttttctat	10	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166848892G>T	ENST00000423058.2	-	26	4910	c.4893C>A	c.(4891-4893)tcC>tcA	p.S1631S	SCN1A_ENST00000375405.3_Silent_p.S1620S|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.S1631S|SCN1A_ENST00000409050.1_Silent_p.S1603S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1631						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACAGGGTAGGGGACACGAAAT	0.433													False	0	True	2:166848892	0	T	166848892	G	T	166848892	2	4	88	1	0	0	0	0	0	0	0	1	13995	1219	43	3		3	SCN1A	2	166848892	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	790	166848892	76350481	2932	10644											
SCN1A	6323	broad.mit.edu	37	chr2	166859067	166859067	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtctcatttctttctAttagttttaggcaatcagta	7	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166859067A>G	ENST00000423058.2	-	21	4216	c.4199T>C	c.(4198-4200)aTa>aCa	p.I1400T	SCN1A_ENST00000375405.3_Missense_Mutation_p.I1389T|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.I1400T|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1372T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1400						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATTTCTTTCTATTAGTTTTAG	0.353													False	0	True	2:166859067	0	G	166859067	A	G	166859067	3	3	88	1	0	0	0	0	1	0	0	0	13995	449	16	4	1854	4	SCN1A	2	166859067	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10175	166859067	76340306	2933	10645											
SCN1A	6323	broad.mit.edu	37	chr2	166900413	166900413	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaacaaggaatctctacgGctctcgttatcctcaaaggt	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166900413G>A	ENST00000423058.2	-	11	1826	c.1809C>T	c.(1807-1809)agC>agT	p.S603S	SCN1A_ENST00000375405.3_Silent_p.S603S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Silent_p.S603S|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Silent_p.S603S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	603						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATCTCTACGGCTCTCGTTAT	0.532													False	0	False	2:166900413	0	A	166900413	G	A	166900413	2	1	88	1	0	0	0	0	0	0	0	1	13995	1194	42	2		2	SCN1A	2	166900413	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41346	166900413	76298960	2934	10646											
SCN1A	6323	broad.mit.edu	37	chr2	166908316	166908316	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attcacagttatattcttttCtatactatgttcctccaagg	4	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166908316C>A	ENST00000423058.2	-	6	894	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	SCN1A_ENST00000375405.3_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.E293*|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.E293*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	293						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATATTCTTTTCTATACTATGT	0.358													False	0	True	2:166908316	0	A	166908316	C	A	166908316	4	1	88	1	0	0	0	0	0	1	0	0	13995	922	32	3	5236	3	SCN1A	2	166908316	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7903	166908316	76291057	2935	10647											
SCN9A	6335	broad.mit.edu	37	chr2	167085266	167085266	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttcaggtttttccatcGcacattttgactaacattca	4	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167085266G>A	ENST00000303354.6	-	22	4484	c.4144C>T	c.(4144-4146)Cga>Tga	p.R1382*	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.R1370*|SCN9A_ENST00000409435.1_Nonsense_Mutation_p.R1381*|SCN9A_ENST00000375387.4_Nonsense_Mutation_p.R1382*			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1381			Missing (in CIPAR; significant reduction in membrane localization of the mutant protein compared to the wild-type; complete loss of function of the sodium channel).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTTTCCATCGCACATTTTGA	0.398													False	0	False	2:167085266	0	A	167085266	G	A	167085266	4	1	88	1	0	0	0	0	0	1	0	0	14006	1095	38	1	1849	1	SCN9A	2	167085266	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176950	167085266	76114107	2936	10648											
SCN9A	6335	broad.mit.edu	37	chr2	167138288	167138288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagataggaactacaacGccttttcttgtgtatttgat	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167138288G>A	ENST00000303354.6	-	13	2348	c.2008C>T	c.(2008-2010)Cgt>Tgt	p.R670C	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R658C|SCN9A_ENST00000409435.1_Missense_Mutation_p.R669C|SCN9A_ENST00000375387.4_Missense_Mutation_p.R670C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	669						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAACTACAACGCCTTTTCTTG	0.358													False	0	False	2:167138288	0	A	167138288	G	A	167138288	3	1	88	1	0	0	0	0	1	0	0	0	14006	1087	38	1	4021	1	SCN9A	2	167138288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53022	167138288	76061085	2937	10649											
SCN9A	6335	broad.mit.edu	37	chr2	167145116	167145116	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaaatcactacgacaAagaagatcatgtaggttttg	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167145116A>G	ENST00000303354.6	-	10	1488	c.1148T>C	c.(1147-1149)tTt>tCt	p.F383S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.F382S|SCN9A_ENST00000409435.1_Missense_Mutation_p.F382S|SCN9A_ENST00000375387.4_Missense_Mutation_p.F383S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	382						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CACTACGACAAAGAAGATCAT	0.368													False	0	True	2:167145116	0	G	167145116	A	G	167145116	3	3	88	1	0	0	0	0	1	0	0	0	14006	14	1	4	4860	4	SCN9A	2	167145116	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6828	167145116	76054257	2938	10650											
SCN9A	6335	broad.mit.edu	37	chr2	167162394	167162395	+	Frame_Shift_Ins	INS	-	-	GC													ctcttgcaaggatttttacaINSagtgattcaaaagtatatat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167162394_167162395insGC	ENST00000409672.1	-	5	849_850	c.503_504insGC	c.(502-504)cttfs	p.L168fs	SCN9A_ENST00000375387.4_Frame_Shift_Ins_p.L169fs|SCN9A_ENST00000409435.1_Frame_Shift_Ins_p.L168fs|SCN9A_ENST00000303354.6_Frame_Shift_Ins_p.L169fs	NM_002977.3	NP_002968.1	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	168						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GGATTTTTACAAGTGATTCAAA	0.366													False	0	False	2:167162394	0	GC	167162395	-	GC	167162394	7	5	88	1	0	1	1	0	0	0	0	0	14006	117	5	0	5521	0	SCN9A	2	167162394	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	17278	167162394	76036979	2939	10651	159	2									
SCN9A	6335	broad.mit.edu	37	chr2	167162395	167162396	+	In_Frame_Ins	INS	-	-	TGGAAT													tcttgcaaggatttttacaaINSgtgattcaaaagtatatatt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167162395_167162396insTGGAAT	ENST00000409672.1	-	5	848_849	c.502_503insATTCCA	c.(502-504)ctt>cATTCCAtt	p.168_168L>HSI	SCN9A_ENST00000375387.4_In_Frame_Ins_p.169_169L>HSI|SCN9A_ENST00000409435.1_In_Frame_Ins_p.168_168L>HSI|SCN9A_ENST00000303354.6_In_Frame_Ins_p.169_169L>HSI	NM_002977.3	NP_002968.1	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	168						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GATTTTTACAAGTGATTCAAAA	0.361													False	0	False	2:167162395	0	TGGAAT	167162396	-	TGGAAT	167162395	7	5	88	1	0	1	1	0	0	0	0	0	14006	72	3	0	5522	0	SCN9A	2	167162395	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1	167162395	76036978	2940	10652	159	2									
SCN9A	6335	broad.mit.edu	37	chr2	167163471	167163471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttaaaaggatatgagtgTactaaaatcttaatagatat	6	2	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167163471T>C	ENST00000303354.6	-	3	712	c.372A>G	c.(370-372)gtA>gtG	p.V124V	SCN9A_ENST00000409672.1_Silent_p.V124V|SCN9A_ENST00000409435.1_Silent_p.V124V|SCN9A_ENST00000375387.4_Silent_p.V124V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	124						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GATATGAGTGTACTAAAATCT	0.313													False	0	False	2:167163471	0	C	167163471	T	C	167163471	2	2	88	1	0	0	0	0	0	0	0	1	14006	1625	57	4		4	SCN9A	2	167163471	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1076	167163471	76035902	2941	10653											
SCN7A	6332	broad.mit.edu	37	chr2	167262289	167262289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttcgtttcaaagtagtcGtaattggctcacatgtgatc	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167262289G>A	ENST00000409855.1	-	25	4976	c.4850C>T	c.(4849-4851)aCg>aTg	p.T1617M		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1617					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAAAGTAGTCGTAATTGGCTC	0.378													False	0	False	2:167262289	0	A	167262289	G	A	167262289	3	1	88	1	0	0	0	0	1	0	0	0	14004	1145	40	1	202	1	SCN7A	2	167262289	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98818	167262289	75937084	2942	10654											
SCN7A	6332	broad.mit.edu	37	chr2	167262858	167262858	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatattgcaacttgaaaAagacagagcatactgttgcc	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167262858A>C	ENST00000409855.1	-	25	4407	c.4281T>G	c.(4279-4281)ctT>ctG	p.L1427L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1427					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAACTTGAAAAAGACAGAGCA	0.363													False	0	True	2:167262858	0	C	167262858	A	C	167262858	2	2	88	1	0	0	0	0	0	0	0	1	14004	1	1	4		4	SCN7A	2	167262858	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	569	167262858	75936515	2943	10655											
SCN7A	6332	broad.mit.edu	37	chr2	167288898	167288898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattttctatatcagattctCctgaagcaattggtacagtt	7	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167288898C>T	ENST00000409855.1	-	15	2648	c.2522G>A	c.(2521-2523)gGa>gAa	p.G841E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	841					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATCAGATTCTCCTGAAGCAAT	0.398													False	0	False	2:167288898	0	T	167288898	C	T	167288898	3	4	88	1	0	0	0	0	1	0	0	0	14004	855	30	2	2570	2	SCN7A	2	167288898	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26040	167288898	75910475	2944	10656											
SCN7A	6332	broad.mit.edu	37	chr2	167328870	167328870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccagttccatggatcacCgaggaaggaaaatgatcctg	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167328870C>T	ENST00000409855.1	-	5	655	c.529G>A	c.(529-531)Ggt>Agt	p.G177S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	177					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CATGGATCACCGAGGAAGGAA	0.353													False	0	False	2:167328870	0	T	167328870	C	T	167328870	3	4	88	1	0	0	0	0	1	0	0	0	14004	652	23	1	4603	1	SCN7A	2	167328870	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39972	167328870	75870503	2945	10657											
XIRP2	129446	broad.mit.edu	37	chr2	167760305	167760305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggattccctgagcagtcggCgcaggattgaacgcttttcc	12	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167760305C>T	ENST00000409195.1	+	2	402	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	XIRP2_ENST00000409756.2_Missense_Mutation_p.R105C|XIRP2_ENST00000409043.1_Missense_Mutation_p.R105C|XIRP2_ENST00000420519.1_Missense_Mutation_p.R105C|XIRP2_ENST00000295237.9_Missense_Mutation_p.R105C|XIRP2_ENST00000409728.1_Missense_Mutation_p.R105C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.R105C(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGCAGTCGGCGCAGGATTGA	0.512													False	0	False	2:167760305	0	T	167760305	C	T	167760305	3	4	88	1	0	0	0	0	1	0	0	0	17514	768	27	1	315	1	XIRP2	2	167760305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	431435	167760305	75439068	2946	10658											
XIRP2	129446	broad.mit.edu	37	chr2	168100760	168100760	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaattacacacatatctttgAatcaaacaatttaattaaat	2	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168100760A>C	ENST00000409195.1	+	9	2947	c.2858A>C	c.(2857-2859)gAa>gCa	p.E953A	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E953A|XIRP2_ENST00000409273.1_Missense_Mutation_p.E731A|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	778					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATATCTTTGAATCAAACAAT	0.343													False	0	False	2:168100760	0	C	168100760	A	C	168100760	3	2	88	1	0	0	0	0	1	0	0	0	17514	246	9	4	2888	4	XIRP2	2	168100760	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	340455	168100760	75098613	2947	10659											
XIRP2	129446	broad.mit.edu	37	chr2	168102034	168102034	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaaatctgtcacacaagaaGacattcagaagggagatgtt	9	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168102034G>T	ENST00000409195.1	+	9	4221	c.4132G>T	c.(4132-4134)Gac>Tac	p.D1378Y	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1378Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1156Y|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1203					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CACACAAGAAGACATTCAGAA	0.363													False	0	False	2:168102034	0	T	168102034	G	T	168102034	3	4	88	1	0	0	0	0	1	0	0	0	17514	942	33	3	4162	3	XIRP2	2	168102034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1274	168102034	75097339	2948	10660											
XIRP2	129446	broad.mit.edu	37	chr2	168102560	168102560	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattattggcaagagcattaAagaaaccttagaagatctct	7	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168102560A>C	ENST00000409195.1	+	9	4747	c.4658A>C	c.(4657-4659)aAa>aCa	p.K1553T	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1553T|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1331T|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1378					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGAGCATTAAAGAAACCTTA	0.358													False	0	True	2:168102560	0	C	168102560	A	C	168102560	3	2	88	1	0	0	0	0	1	0	0	0	17514	14	1	4	4688	4	XIRP2	2	168102560	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	526	168102560	75096813	2949	10661											
XIRP2	129446	broad.mit.edu	37	chr2	168103174	168103174	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagctggagctttggattatCtgaaacaactccacacagag	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168103174C>A	ENST00000409195.1	+	9	5361	c.5272C>A	c.(5272-5274)Ctg>Atg	p.L1758M	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1758M|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1536M|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1583					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTGGATTATCTGAAACAACT	0.373													False	0	False	2:168103174	0	A	168103174	C	A	168103174	3	1	88	1	0	0	0	0	1	0	0	0	17514	912	32	3	5302	3	XIRP2	2	168103174	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	614	168103174	75096199	2950	10662											
XIRP2	129446	broad.mit.edu	37	chr2	168103993	168103993	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcactgtaaagattgtcataGatcgtgaacaaaacaatgat	8	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168103993G>T	ENST00000409195.1	+	9	6180	c.6091G>T	c.(6091-6093)Gat>Tat	p.D2031Y	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2031Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1809Y|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1856					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATTGTCATAGATCGTGAACA	0.388													False	0	False	2:168103993	0	T	168103993	G	T	168103993	3	4	88	1	0	0	0	0	1	0	0	0	17514	942	33	3	6121	3	XIRP2	2	168103993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	819	168103993	75095380	2951	10663											
XIRP2	129446	broad.mit.edu	37	chr2	168107754	168107754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattccactgatcacatggtGcccgacactgaaagttatga	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168107754G>A	ENST00000409195.1	+	9	9941	c.9852G>A	c.(9850-9852)gtG>gtA	p.V3284V	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V3284V|XIRP2_ENST00000409273.1_Silent_p.V3062V|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3109					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCACATGGTGCCCGACACTG	0.473													False	0	True	2:168107754	0	A	168107754	G	A	168107754	2	1	88	1	0	0	0	0	0	0	0	1	17514	1306	46	2		2	XIRP2	2	168107754	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3761	168107754	75091619	2952	10664											
XIRP2	129446	broad.mit.edu	37	chr2	168108246	168108246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaagctggcaaatctggCtgtgacttcaagcatgcccc	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168108246C>T	ENST00000409195.1	+	9	10433	c.10344C>T	c.(10342-10344)ggC>ggT	p.G3448G	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.G3448G|XIRP2_ENST00000409273.1_Silent_p.G3226G|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3273					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCAAATCTGGCTGTGACTTCA	0.388													False	0	False	2:168108246	0	T	168108246	C	T	168108246	2	4	88	1	0	0	0	0	0	0	0	1	17514	784	28	2		2	XIRP2	2	168108246	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	492	168108246	75091127	2953	10665											
XIRP2	129446	broad.mit.edu	37	chr2	168108257	168108257	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatctggctgtgacttcaAgcatgccccaccaacctatg	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168108257A>C	ENST00000409195.1	+	9	10444	c.10355A>C	c.(10354-10356)aAg>aCg	p.K3452T	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K3452T|XIRP2_ENST00000409273.1_Missense_Mutation_p.K3230T|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3277					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTGACTTCAAGCATGCCCCA	0.403													False	0	False	2:168108257	0	C	168108257	A	C	168108257	3	2	88	1	0	0	0	0	1	0	0	0	17514	72	3	4	10385	4	XIRP2	2	168108257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11	168108257	75091116	2954	10666											
SPC25	57405	broad.mit.edu	37	chr2	169730185	169730185	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attagtgaaaataaactgcaAtttctcacctgaaaagagat	6	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169730185A>C	ENST00000282074.2	-	6	601	c.460T>G	c.(460-462)Ttg>Gtg	p.L154V		NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	154	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						ATAAACTGCAATTTCTCACCT	0.353													False	0	True	2:169730185	0	C	169730185	A	C	169730185	3	2	88	1	0	0	0	0	1	0	0	0	15104	98	4	4	222	4	SPC25	2	169730185	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1621928	169730185	73469188	2955	10667											
G6PC2	57818	broad.mit.edu	37	chr2	169757900	169757900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatttgcagaaggactaccGagcttactacacttttctaa	7	10	1	1	rs143670077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169757900G>A	ENST00000375363.3	+	1	151	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	G6PC2_ENST00000429379.2_Missense_Mutation_p.R20Q|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Missense_Mutation_p.R20Q	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	20					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AAGGACTACCGAGCTTACTAC	0.358													False	0	False	2:169757900	0	A	169757900	G	A	169757900	3	1	88	1	0	0	0	0	1	0	0	0	6186	1058	37	1	61	1	G6PC2	2	169757900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27715	169757900	73441473	2956	10668											
ABCB11	8647	broad.mit.edu	37	chr2	169792891	169792891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggcaatgatcatggccAcagtgacgttagtgaaggaa	13	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169792891A>G	ENST00000263817.6	-	22	2787	c.2663T>C	c.(2662-2664)gTg>gCg	p.V888A		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	888	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GATCATGGCCACAGTGACGTT	0.502													False	0	False	2:169792891	0	G	169792891	A	G	169792891	3	3	88	1	0	0	0	0	1	0	0	0	42	159	6	4	1330	4	ABCB11	2	169792891	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34991	169792891	73406482	2957	10669											
ABCB11	8647	broad.mit.edu	37	chr2	169869852	169869852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaatggtgttattcacacAtgcttttcctggaatctgga	8	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169869852A>G	ENST00000263817.6	-	5	443	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	107	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTATTCACACATGCTTTTCCT	0.393													False	0	True	2:169869852	0	G	169869852	A	G	169869852	3	3	88	1	0	0	0	0	1	0	0	0	42	217	8	4	3742	4	ABCB11	2	169869852	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	76961	169869852	73329521	2958	10670											
LRP2	4036	broad.mit.edu	37	chr2	170027155	170027155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattgacacatcgaaactcGctctctgtgcactcccgggg	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170027155G>A	ENST00000263816.3	-	59	11571	c.11286C>T	c.(11284-11286)agC>agT	p.S3762S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3762	LDL-receptor class A 32.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCGAAACTCGCTCTCTGTGC	0.527													False	0	True	2:170027155	0	A	170027155	G	A	170027155	2	1	88	1	0	0	0	0	0	0	0	1	9018	1078	38	1		1	LRP2	2	170027155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157303	170027155	73172218	2959	10671											
LRP2	4036	broad.mit.edu	37	chr2	170038097	170038097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctactctcccaatgtatgCgcggtgaccccagtctgccc	9	17	2	1	rs137983840	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170038097C>T	ENST00000263816.3	-	52	10315	c.10030G>A	c.(10030-10032)Gca>Aca	p.A3344T	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3344					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAATGTATGCGCGGTGACCC	0.483													False	0	False	2:170038097	0	T	170038097	C	T	170038097	3	4	88	1	0	0	0	0	1	0	0	0	9018	768	27	1	4049	1	LRP2	2	170038097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10942	170038097	73161276	2960	10672											
LRP2	4036	broad.mit.edu	37	chr2	170058137	170058137	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcacttaagataaacttaCggcaatttttctcatctgaa	5	8	2	2	rs80338748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170058137C>T	ENST00000263816.3	-	44	8738		c.e44+1			NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GATAAACTTACGGCAATTTTT	0.338													False	0	False	2:170058137	0	T	170058137	C	T	170058137	5	4	88	1	0	0	0	0	0	0	1	0	9018	550	19	1	5658	1	LRP2	2	170058137	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20040	170058137	73141236	2961	10673											
BBS5	129880	broad.mit.edu	37	chr2	170349386	170349386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgttctttttcatagagCttatgaaacttctaaaatgt	6	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170349386C>T	ENST00000295240.3	+	6	765	c.389C>T	c.(388-390)gCt>gTt	p.A130V	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.A130V|BBS5_ENST00000392663.2_Missense_Mutation_p.A130V|BBS5_ENST00000554017.1_Missense_Mutation_p.A130V	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5											endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TTTCATAGAGCTTATGAAACT	0.279									Bardet-Biedl syndrome				False	0	False	2:170349386	0	T	170349386	C	T	170349386	3	4	88	1	0	0	0	0	1	0	0	0	1344	797	28	2	411	2	BBS5	2	170349386	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291249	170349386	72849987	2962	10674											
BBS5	129880	broad.mit.edu	37	chr2	170359670	170359670	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagaaatagactctgatggTcacacggatgcttttgtggt	12	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170359670T>G	ENST00000295240.3	+	10	1258	c.882T>G	c.(880-882)ggT>ggG	p.G294G	RP11-724O16.1_ENST00000513963.1_Silent_p.G294G|BBS5_ENST00000392663.2_Silent_p.G273G|BBS5_ENST00000554017.1_Silent_p.G294G	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5											endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ACTCTGATGGTCACACGGATG	0.393									Bardet-Biedl syndrome				False	0	False	2:170359670	0	G	170359670	T	G	170359670	2	3	88	1	0	0	0	0	0	0	0	1	1344	1654	58	4		4	BBS5	2	170359670	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10284	170359670	72839703	2963	10675											
FASTKD1	79675	broad.mit.edu	37	chr2	170428255	170428255	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagtaagaaattgaggAtggtctctgacatactcagc	11	6	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170428255A>G	ENST00000453153.2	-	2	631	c.285T>C	c.(283-285)caT>caC	p.H95H	FASTKD1_ENST00000453929.2_Silent_p.H95H	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	95					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GAAATTGAGGATGGTCTCTGA	0.353													False	0	False	2:170428255	0	G	170428255	A	G	170428255	2	3	88	1	0	0	0	0	0	0	0	1	5725	330	12	4		4	FASTKD1	2	170428255	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	68585	170428255	72771118	2964	10676											
PPIG	9360	broad.mit.edu	37	chr2	170493717	170493717	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atacagaaaccaagagagtaAgagctcacacagaaaagaaa	8	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493717A>G	ENST00000260970.3	+	14	2169	c.1949A>G	c.(1948-1950)aAg>aGg	p.K650R	PPIG_ENST00000448752.2_Missense_Mutation_p.K650R|PPIG_ENST00000409714.3_Missense_Mutation_p.K635R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	650					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAAGAGAGTAAGAGCTCACAC	0.388													False	0	False	2:170493717	0	G	170493717	A	G	170493717	3	3	88	1	0	0	0	0	1	0	0	0	12398	72	3	4	1995	4	PPIG	2	170493717	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65462	170493717	72705656	2965	10677											
PPIG	9360	broad.mit.edu	37	chr2	170493763	170493763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagtgagaaaagaatgtaCtctaaaagtcgtgatcataa	10	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493763C>T	ENST00000260970.3	+	14	2215	c.1995C>T	c.(1993-1995)taC>taT	p.Y665Y	PPIG_ENST00000448752.2_Silent_p.Y665Y|PPIG_ENST00000409714.3_Silent_p.Y650Y	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	665					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAGAATGTACTCTAAAAGTC	0.358													False	0	False	2:170493763	0	T	170493763	C	T	170493763	2	4	88	1	0	0	0	0	0	0	0	1	12398	576	20	2		2	PPIG	2	170493763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	170493763	72705610	2966	10678											
PPIG	9360	broad.mit.edu	37	chr2	170493870	170493870	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtcaggacaatgaatTaaagtcctccatgttgaaaa	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493870T>C	ENST00000260970.3	+	14	2322	c.2102T>C	c.(2101-2103)tTa>tCa	p.L701S	PPIG_ENST00000448752.2_Missense_Mutation_p.L701S|PPIG_ENST00000409714.3_Missense_Mutation_p.L686S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	701					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GACAATGAATTAAAGTCCTCC	0.353													False	0	True	2:170493870	0	C	170493870	T	C	170493870	3	2	88	1	0	0	0	0	1	0	0	0	12398	1764	61	4	2148	4	PPIG	2	170493870	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	107	170493870	72705503	2967	10679											
KLHL23	151230	broad.mit.edu	37	chr2	170606212	170606212	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagtgccatgcggtcTcatgggtgtgtttgtgtgta	13	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170606212T>A	ENST00000392647.2	+	4	1891	c.1647T>A	c.(1645-1647)tcT>tcA	p.S549S	KLHL23_ENST00000272797.4_Silent_p.S549S|KLHL23_ENST00000602521.1_Silent_p.S56S	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	549										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCATGCGGTCTCATGGGTGTG	0.378													False	0	False	2:170606212	0	A	170606212	T	A	170606212	2	1	88	1	0	0	0	0	0	0	0	1	8428	1538	54	5		5	KLHL23	2	170606212	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	112342	170606212	72593161	2968	10680											
UBR3	130507	broad.mit.edu	37	chr2	170815035	170815035	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggaaactgcaatggatgtTggtaagtcaaaattattagt	10	3	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170815035T>G	ENST00000272793.5	+	24	3683	c.3633T>G	c.(3631-3633)gtT>gtG	p.V1211V	UBR3_ENST00000418381.1_Splice_Site_p.V1211V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1211					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CAATGGATGTTGGTAAGTCAA	0.353													False	0	False	2:170815035	0	G	170815035	T	G	170815035	5	3	88	1	0	0	0	0	0	0	1	0	16987	1826	63	4	3727	4	UBR3	2	170815035	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208823	170815035	72384338	2969	10681											
UBR3	130507	broad.mit.edu	37	chr2	170917646	170917646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctttgtgataagtgaaCtatttaaaggaaagttatac	9	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170917646C>T	ENST00000272793.5	+	34	4893	c.4843C>T	c.(4843-4845)Cta>Tta	p.L1615L	UBR3_ENST00000392631.1_Silent_p.L436L|UBR3_ENST00000418381.1_Silent_p.L1615L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1615					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GATAAGTGAACTATTTAAAGG	0.313													False	0	False	2:170917646	0	T	170917646	C	T	170917646	2	4	88	1	0	0	0	0	0	0	0	1	16987	564	20	2		2	UBR3	2	170917646	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102611	170917646	72281727	2970	10682											
MYO3B	140469	broad.mit.edu	37	chr2	171070913	171070913	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaatgggggctcagtcactGagcttgtcaaaggtctactc	12	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171070913G>A	ENST00000334231.6	+	4	373	c.373G>A	c.(373-375)Gag>Aag	p.E125K	MYO3B_ENST00000409044.3_Missense_Mutation_p.E116K|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.E116K			Q8WXR4	MYO3B_HUMAN	myosin IIIB	116	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCAGTCACTGAGCTTGTCAA	0.453													False	0	False	2:171070913	0	A	171070913	G	A	171070913	3	1	88	1	0	0	0	0	1	0	0	0	10144	1291	45	2	360	2	MYO3B	2	171070913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153267	171070913	72128460	2971	10683											
MYO3B	140469	broad.mit.edu	37	chr2	171225744	171225744	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaacaggtgtcttattaaGgattttgaaaggcgaccttc	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171225744G>T	ENST00000334231.6	+	9	855	c.855G>T	c.(853-855)aaG>aaT	p.K285N	MYO3B_ENST00000409044.3_Missense_Mutation_p.K276N|MYO3B_ENST00000408978.4_Missense_Mutation_p.K276N|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	276	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GTCTTATTAAGGATTTTGAAA	0.413													False	0	False	2:171225744	0	T	171225744	G	T	171225744	3	4	88	1	0	0	0	0	1	0	0	0	10144	991	35	3	862	3	MYO3B	2	171225744	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154831	171225744	71973629	2972	10684											
MYO3B	140469	broad.mit.edu	37	chr2	171243770	171243770	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggagttgtgatgggggcaaGaatctctgaatatctcctgg	14	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171243770G>T	ENST00000334231.6	+	14	1556	c.1556G>T	c.(1555-1557)aGa>aTa	p.R519I	MYO3B_ENST00000409044.3_Missense_Mutation_p.R510I|MYO3B_ENST00000408978.4_Missense_Mutation_p.R510I|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	510	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATGGGGGCAAGAATCTCTGAA	0.438													False	0	False	2:171243770	0	T	171243770	G	T	171243770	3	4	88	1	0	0	0	0	1	0	0	0	10144	942	33	3	1583	3	MYO3B	2	171243770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18026	171243770	71955603	2973	10685											
MYO3B	140469	broad.mit.edu	37	chr2	171248064	171248064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatatattttactatattTatgctggtcttcatcaccaa	3	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171248064T>C	ENST00000334231.6	+	15	1639	c.1639T>C	c.(1639-1641)Tat>Cat	p.Y547H	MYO3B_ENST00000409044.3_Missense_Mutation_p.Y538H|MYO3B_ENST00000408978.4_Missense_Mutation_p.Y538H|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	538	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTACTATATTTATGCTGGTCT	0.343													False	0	True	2:171248064	0	C	171248064	T	C	171248064	3	2	88	1	0	0	0	0	1	0	0	0	10144	1754	61	4	1670	4	MYO3B	2	171248064	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4294	171248064	71951309	2974	10686											
GAD1	2571	broad.mit.edu	37	chr2	171675171	171675171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggaccccaataccactaacCtgcgccccacaagtaggtcc	7	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171675171C>A	ENST00000358196.3	+	2	620	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	GAD1_ENST00000344257.5_Missense_Mutation_p.L24M|GAD1_ENST00000375272.1_Missense_Mutation_p.L24M|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	24					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TACCACTAACCTGCGCCCCAC	0.622													False	0	False	2:171675171	0	A	171675171	C	A	171675171	3	1	88	1	0	0	0	0	1	0	0	0	6221	680	24	3	72	3	GAD1	2	171675171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	427107	171675171	71524202	2975	10687											
GAD1	2571	broad.mit.edu	37	chr2	171678658	171678658	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactggggctcaagatctgCggtaagtgacaggacccact	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171678658C>T	ENST00000358196.3	+	3	694	c.144C>T	c.(142-144)tgC>tgT	p.C48C	GAD1_ENST00000344257.5_Splice_Site_p.C48C|GAD1_ENST00000375272.1_Splice_Site_p.C48C|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	48					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCAAGATCTGCGGTAAGTGAC	0.657													False	0	False	2:171678658	0	T	171678658	C	T	171678658	5	4	88	1	0	0	0	0	0	0	1	0	6221	782	27	1	150	1	GAD1	2	171678658	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3487	171678658	71520715	2976	10688											
GAD1	2571	broad.mit.edu	37	chr2	171686050	171686050	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgccttcaaggagaggCaatcctccaagaacctgctt	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171686050C>T	ENST00000358196.3	+	4	761	c.211C>T	c.(211-213)Caa>Taa	p.Q71*	GAD1_ENST00000344257.5_Nonsense_Mutation_p.Q71*|GAD1_ENST00000375272.1_Nonsense_Mutation_p.Q71*|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	71					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAAGGAGAGGCAATCCTCCAA	0.542													False	0	False	2:171686050	0	T	171686050	C	T	171686050	4	4	88	1	0	0	0	0	0	1	0	0	6221	711	25	2	221	2	GAD1	2	171686050	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7392	171686050	71513323	2977	10689											
GAD1	2571	broad.mit.edu	37	chr2	171702066	171702066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctgctcgctacaagtacTtcccggaagttaagacaaag	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171702066T>C	ENST00000358196.3	+	8	1352	c.802T>C	c.(802-804)Ttc>Ctc	p.F268L		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	268					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTACAAGTACTTCCCGGAAGT	0.517													False	0	False	2:171702066	0	C	171702066	T	C	171702066	3	2	88	1	0	0	0	0	1	0	0	0	6221	1609	56	4	869	4	GAD1	2	171702066	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16016	171702066	71497307	2978	10690											
GAD1	2571	broad.mit.edu	37	chr2	171702238	171702238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactattccataaagaaagCtggggctgcacttggctttg	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171702238C>A	ENST00000358196.3	+	9	1440	c.890C>A	c.(889-891)gCt>gAt	p.A297D		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	297					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATAAAGAAAGCTGGGGCTGCA	0.428													False	0	True	2:171702238	0	A	171702238	C	A	171702238	3	1	88	1	0	0	0	0	1	0	0	0	6221	797	28	3	961	3	GAD1	2	171702238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172	171702238	71497135	2979	10691											
GORASP2	26003	broad.mit.edu	37	chr2	171804913	171804913	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggagcctttctttgatttTattgtttctattaatggttc	7	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171804913T>G	ENST00000234160.4	+	2	932	c.117T>G	c.(115-117)ttT>ttG	p.F39L	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.F51L	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	39	PDZ.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						TCTTTGATTTTATTGTTTCTA	0.328													False	0	True	2:171804913	0	G	171804913	T	G	171804913	3	3	88	1	0	0	0	0	1	0	0	0	6621	1751	61	4	123	4	GORASP2	2	171804913	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	102675	171804913	71394460	2980	10692											
CYBRD1	79901	broad.mit.edu	37	chr2	172411148	172411148	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atagtcaccagaccgcaatgGaaacgtcctaaggagccaaa	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172411148G>A	ENST00000321348.4	+	4	870	c.672G>A	c.(670-672)tgG>tgA	p.W224*	CYBRD1_ENST00000409484.1_Nonsense_Mutation_p.W166*|CYBRD1_ENST00000375252.3_Missense_Mutation_p.E155K	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	224					cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GACCGCAATGGAAACGTCCTA	0.498													False	0	True	2:172411148	0	A	172411148	G	A	172411148	4	1	88	1	0	0	0	0	0	1	0	0	4159	1184	41	2	686	2	CYBRD1	2	172411148	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	606235	172411148	70788225	2981	10693											
SLC25A12	8604	broad.mit.edu	37	chr2	172648089	172648089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgtctcggaggaaacacGctttggcaccctgtcacaca	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172648089G>A	ENST00000422440.2	-	15	1494	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.A379V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	486					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAGGAAACACGCTTTGGCACC	0.448													False	0	False	2:172648089	0	A	172648089	G	A	172648089	3	1	88	1	0	0	0	0	1	0	0	0	14554	1087	38	1	595	1	SLC25A12	2	172648089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236941	172648089	70551284	2982	10694											
HAT1	8520	broad.mit.edu	37	chr2	172841248	172841249	+	Splice_Site	INS	-	-	CAGAATAA													gaagttcaaaataaataaggINStatttttattctgtaggagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172841248_172841249insCAGAATAA	ENST00000264108.4	+	9	1011		c.e9+1		HAT1_ENST00000392584.1_Splice_Site|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1						chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AATAAATAAGGTATTTTTATTC	0.297													False	0	False	2:172841248	0	CAGAATAA	172841249	-	CAGAATAA	172841248	8	5	88	1	0	1	1	0	0	0	1	0	7011	1275	44	0	1010	0	HAT1	2	172841248	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	193159	172841248	70358125	2983	10695											
ITGA6	0	broad.mit.edu	37	chr2	173368845	173368845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttaaacgctctaggtaCgatgacagtgttccccgata	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173368845C>T	ENST00000264106.6	+	26	3461	c.3258C>T	c.(3256-3258)taC>taT	p.Y1086Y	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_3'UTR|ITGA6_ENST00000409080.1_Silent_p.Y1047Y|ITGA6_ENST00000343713.4_3'UTR|AC093818.1_ENST00000450443.1_RNA|ITGA6_ENST00000375221.2_3'UTR|ITGA6_ENST00000409532.1_3'UTR			P23229	ITA6_HUMAN	integrin, alpha 6	1086					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GCTCTAGGTACGATGACAGTG	0.378													False	0	False	2:173368845	0	T	173368845	C	T	173368845	2	4	88	1	0	0	0	0	0	0	0	1	7930	547	19	1		1	ITGA6	2	173368845	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	527597	173368845	69830528	2984	10696											
PDK1	5163	broad.mit.edu	37	chr2	173457694	173457694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatggattgcccatatcacGtctttacgcacaatacttcc	5	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173457694G>A	ENST00000282077.3	+	10	1270	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	PDK1_ENST00000410055.1_Missense_Mutation_p.R363H|PDK1_ENST00000392571.2_Missense_Mutation_p.R383H|PDK1_ENST00000544863.1_Missense_Mutation_p.R208H|PDK1_ENST00000543905.1_Missense_Mutation_p.R287H			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1		Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CCCATATCACGTCTTTACGCA	0.383									Autosomal Dominant Polycystic Kidney Disease				False	0	False	2:173457694	0	A	173457694	G	A	173457694	3	1	88	1	0	0	0	0	1	0	0	0	11743	1145	40	1	1126	1	PDK1	2	173457694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88849	173457694	69741679	2985	10697											
RAPGEF4	11069	broad.mit.edu	37	chr2	173830410	173830410	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatggtgttctcaaccaCggtaagatgagccccagtcc	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173830410C>T	ENST00000264111.6	+	9	1003	c.816C>T	c.(814-816)caC>caT	p.H272H	RAPGEF4_ENST00000397087.3_Splice_Site_p.H129H|RAPGEF4_ENST00000539331.1_Splice_Site_p.H120H|RAPGEF4_ENST00000538974.1_Splice_Site_p.H102H|RAPGEF4_ENST00000535187.1_Splice_Site_p.H53H|RAPGEF4_ENST00000540783.1_Splice_Site_p.H120H|RAPGEF4_ENST00000409036.1_Splice_Site_p.H273H|RAPGEF4_ENST00000397081.3_Splice_Site_p.H273H|RAPGEF4_ENST00000473043.1_3'UTR			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	273	DEP.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTCTCAACCACGGTAAGATGA	0.483													False	0	False	2:173830410	0	T	173830410	C	T	173830410	5	4	88	1	0	0	0	0	0	0	1	0	13125	550	19	1	869	1	RAPGEF4	2	173830410	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372716	173830410	69368963	2986	10698											
RAPGEF4	11069	broad.mit.edu	37	chr2	173848280	173848280	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaggagcttcttcataTtaaagccttatcccatcttt	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173848280T>G	ENST00000264111.6	+	11	1245	c.1058T>G	c.(1057-1059)aTt>aGt	p.I353S	RAPGEF4_ENST00000397087.3_Missense_Mutation_p.I210S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.I183S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.I134S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.I201S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.I354S|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.I354S|RAPGEF4_ENST00000473043.1_3'UTR			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	354					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CTTCTTCATATTAAAGCCTTA	0.388													False	0	False	2:173848280	0	G	173848280	T	G	173848280	3	3	88	1	0	0	0	0	1	0	0	0	13125	1493	52	4	1119	4	RAPGEF4	2	173848280	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17870	173848280	69351093	2987	10699											
RAPGEF4	11069	broad.mit.edu	37	chr2	173891399	173891399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagatgacaatttatgatTgggaactcttcaactgcgtg	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173891399T>C	ENST00000264111.6	+	24	2537	c.2350T>C	c.(2350-2352)Tgg>Cgg	p.W784R	RAPGEF4_ENST00000397087.3_Missense_Mutation_p.W641R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.W614R|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.W565R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.W632R|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.W785R|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.W785R			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	785	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AATTTATGATTGGGAACTCTT	0.438													False	0	True	2:173891399	0	C	173891399	T	C	173891399	3	2	88	1	0	0	0	0	1	0	0	0	13125	1812	63	4	2463	4	RAPGEF4	2	173891399	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43119	173891399	69307974	2988	10700											
RAPGEF4	11069	broad.mit.edu	37	chr2	173916387	173916387	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgatgcagctcaagcTaataagaaccatcaggatgt	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173916387T>C	ENST00000264111.6	+	31	3112	c.2925T>C	c.(2923-2925)gcT>gcC	p.A975A	RAPGEF4_ENST00000397087.3_Silent_p.A832A|RAPGEF4_ENST00000539331.1_Silent_p.A823A|RAPGEF4_ENST00000538974.1_Silent_p.A805A|RAPGEF4_ENST00000535187.1_Silent_p.A756A|RAPGEF4_ENST00000540783.1_Silent_p.A823A|RAPGEF4_ENST00000409036.1_Silent_p.A908A|RAPGEF4_ENST00000397081.3_Silent_p.A976A			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	976	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CAGCTCAAGCTAATAAGAACC	0.373													False	0	False	2:173916387	0	C	173916387	T	C	173916387	2	2	88	1	0	0	0	0	0	0	0	1	13125	1509	53	4		4	RAPGEF4	2	173916387	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24988	173916387	69282986	2989	10701											
SCRN3	79634	broad.mit.edu	37	chr2	175264809	175264810	+	Frame_Shift_Ins	INS	-	-	AAAACCAGAAAAG													agtttgtgatgaagaagcacINStattaggaatggaccttgtc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175264809_175264810insAAAACCAGAAAAG	ENST00000272732.6	+	3	401_402	c.319_320insAAAACCAGAAAAG	c.(319-321)ctafs	p.L107fs	SCRN3_ENST00000409673.3_Frame_Shift_Ins_p.L100fs	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	107					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TGAAGAAGCACTATTAGGAATG	0.376													False	0	False	2:175264809	0	AAAACCAGAAAAG	175264810	-	AAAACCAGAAAAG	175264809	7	5	88	1	0	1	1	0	0	0	0	0	14021	564	20	0	325	0	SCRN3	2	175264809	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1348422	175264809	67934564	2990	10702											
GPR155	151556	broad.mit.edu	37	chr2	175300962	175300962	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggactcttttgaagaaatCtgtaaaacaagtactcatcc	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175300962C>T	ENST00000392552.2	-	16	2733	c.2495G>A	c.(2494-2496)aGa>aAa	p.R832K	GPR155_ENST00000392551.2_Missense_Mutation_p.R832K|GPR155_ENST00000295500.4_Missense_Mutation_p.R832K	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	832	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TTGAAGAAATCTGTAAAACAA	0.433													False	0	False	2:175300962	0	T	175300962	C	T	175300962	3	4	88	1	0	0	0	0	1	0	0	0	6706	913	32	2	121	2	GPR155	2	175300962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36153	175300962	67898411	2991	10703											
WIPF1	7456	broad.mit.edu	37	chr2	175439979	175439979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcggcattccagcctggAacaatcctcccagacctgga	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175439979A>G	ENST00000392547.2	-	4	410	c.311T>C	c.(310-312)tTc>tCc	p.F104S	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.F104S|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.F104S|WIPF1_ENST00000392546.2_Missense_Mutation_p.F104S|WIPF1_ENST00000410117.1_Missense_Mutation_p.F104S|WIPF1_ENST00000409415.3_Missense_Mutation_p.F104S|WIPF1_ENST00000359761.3_Missense_Mutation_p.F104S|AC010894.5_ENST00000454203.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	104					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TCCAGCCTGGAACAATCCTCC	0.592													False	0	False	2:175439979	0	G	175439979	A	G	175439979	3	3	88	1	0	0	0	0	1	0	0	0	17451	246	9	4	1220	4	WIPF1	2	175439979	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	139017	175439979	67759394	2992	10704											
WIPF1	7456	broad.mit.edu	37	chr2	175440090	175440090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaccaccaccgcctccaGcaccagctcctttaggttct	6	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175440090G>A	ENST00000392547.2	-	4	299	c.200C>T	c.(199-201)gCt>gTt	p.A67V	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.A67V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.A67V|WIPF1_ENST00000392546.2_Missense_Mutation_p.A67V|WIPF1_ENST00000410117.1_Missense_Mutation_p.A67V|WIPF1_ENST00000409415.3_Missense_Mutation_p.A67V|WIPF1_ENST00000359761.3_Missense_Mutation_p.A67V|AC010894.5_ENST00000454203.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	67	Gly-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						accgcctccagcaccaGCTCC	0.597													False	0	False	2:175440090	0	A	175440090	G	A	175440090	3	1	88	1	0	0	0	0	1	0	0	0	17451	971	34	2	1331	2	WIPF1	2	175440090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	175440090	67759283	2993	10705											
CHRNA1	1134	broad.mit.edu	37	chr2	175614714	175614714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacatgggtgctgggtgagCggtggtgtgtgttgatgacg	20	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175614714C>T	ENST00000348749.5	-	7	1039	c.962G>A	c.(961-963)cGc>cAc	p.R321H	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R239H|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R321H|CHRNA1_ENST00000261007.5_Missense_Mutation_p.R346H	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	346					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R346L(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GCTGGGTGAGCGGTGGTGTGT	0.557													False	0	False	2:175614714	0	T	175614714	C	T	175614714	3	4	88	1	0	0	0	0	1	0	0	0	3404	768	27	1	423	1	CHRNA1	2	175614714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174624	175614714	67584659	2994	10706											
CHRNA1	1134	broad.mit.edu	37	chr2	175624353	175624353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgttcggagcccaggaCgaggccagctgagacagcag	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175624353C>T	ENST00000348749.5	-	2	129	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V18I|CHRNA1_ENST00000261007.5_Missense_Mutation_p.V18I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	18					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V18F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GAGCCCAGGACGAGGCCAGCT	0.557													False	0	False	2:175624353	0	T	175624353	C	T	175624353	3	4	88	1	0	0	0	0	1	0	0	0	3404	536	19	1	1432	1	CHRNA1	2	175624353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9639	175624353	67575020	2995	10707											
ATP5G3	518	broad.mit.edu	37	chr2	176043125	176043125	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagctgctgcttcagcgaaGggtttctaaaagagaccaca	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176043125G>T	ENST00000284727.4	-	5	3344	c.320C>A	c.(319-321)cCt>cAt	p.P107H	ATP5G3_ENST00000409194.1_Missense_Mutation_p.P107H|ATP5G3_ENST00000392541.3_Missense_Mutation_p.P107H	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	107					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CTTCAGCGAAGGGTTTCTAAA	0.363													False	0	True	2:176043125	0	T	176043125	G	T	176043125	3	4	88	1	0	0	0	0	1	0	0	0	1159	1000	35	3	112	3	ATP5G3	2	176043125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	418772	176043125	67156248	2996	10708											
ATP5G3	518	broad.mit.edu	37	chr2	176046212	176046212	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctgcggaggaaaagaggCttaaggtcaagtgccctcca	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176046212C>A	ENST00000409194.1	-	2	55		c.e2-1		ATP5G3_ENST00000284727.4_Intron|ATP5G3_ENST00000392541.3_5'UTR			P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)						ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GGAAAAGAGGCTTAAGGTCAA	0.657													False	0	False	2:176046212	0	A	176046212	C	A	176046212	5	1	88	1	0	0	0	0	0	0	1	0	1159	812	28	3		3	ATP5G3	2	176046212	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3087	176046212	67153161	2997	10709											
KIAA1715	80856	broad.mit.edu	37	chr2	176802174	176802174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cttctcaaaactaaactcagGaagtcttggagcctgaggtc	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176802174G>T	ENST00000272748.4	-	12	1199	c.952C>A	c.(952-954)Cct>Act	p.P318T	KIAA1715_ENST00000544803.1_Missense_Mutation_p.P349T|KIAA1715_ENST00000535310.1_Missense_Mutation_p.P243T	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	318						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CTAAACTCAGGAAGTCTTGGA	0.423													False	0	False	2:176802174	0	T	176802174	G	T	176802174	3	4	88	1	0	0	0	0	1	0	0	0	8304	1174	41	3	342	3	KIAA1715	2	176802174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	755962	176802174	66397199	2998	10710											
KIAA1715	80856	broad.mit.edu	37	chr2	176812408	176812408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtttctttgagctgcagttCgctgacgaatctctgagaag	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176812408C>T	ENST00000272748.4	-	9	753	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	KIAA1715_ENST00000544803.1_Missense_Mutation_p.R169Q|KIAA1715_ENST00000535310.1_Missense_Mutation_p.R94Q	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	169						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AGCTGCAGTTCGCTGACGAAT	0.403													False	0	False	2:176812408	0	T	176812408	C	T	176812408	3	4	88	1	0	0	0	0	1	0	0	0	8304	884	31	1	800	1	KIAA1715	2	176812408	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10234	176812408	66386965	2999	10711											
KIAA1715	80856	broad.mit.edu	37	chr2	176844565	176844565	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttctcttggaaaagaAgaaaataattactgttctta	6	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176844565A>C	ENST00000272748.4	-	5	536	c.289T>G	c.(289-291)Ttc>Gtc	p.F97V	KIAA1715_ENST00000544803.1_Missense_Mutation_p.F97V|KIAA1715_ENST00000535310.1_Missense_Mutation_p.F22V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	97						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTGGAAAAGAAGAAAATAATT	0.274													False	0	False	2:176844565	0	C	176844565	A	C	176844565	3	2	88	1	0	0	0	0	1	0	0	0	8304	72	3	4	1033	4	KIAA1715	2	176844565	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32157	176844565	66354808	3000	10712											
HOXD13	3239	broad.mit.edu	37	chr2	176959324	176959324	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgagtatgccattaacaaaTtcattaacaaggacaagcgg	8	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176959324T>G	ENST00000392539.3	+	2	898	c.898T>G	c.(898-900)Ttc>Gtc	p.F300V		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	300					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CATTAACAAATTCATTAACAA	0.478			T	NUP98	AML*								False	0	True	2:176959324	0	G	176959324	T	G	176959324	3	3	88	1	0	0	0	0	1	0	0	0	7369	1493	52	4	904	4	HOXD13	2	176959324	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	114759	176959324	66240049	3001	10713											
HOXD12	3238	broad.mit.edu	37	chr2	176964670	176964670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatctcctacccgcgcggCgcgctgccctgggccgccac	11	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176964670C>T	ENST00000406506.2	+	1	213	c.141C>T	c.(139-141)ggC>ggT	p.G47G	HOXD12_ENST00000404162.2_Silent_p.G47G			P35452	HXD12_HUMAN	homeobox D12	47				GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044).		nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		ACCCGCGCGGCGCGCTGCCCT	0.711													False	0	True	2:176964670	0	T	176964670	C	T	176964670	2	4	88	1	0	0	0	0	0	0	0	1	7368	755	27	1		1	HOXD12	2	176964670	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5346	176964670	66234703	3002	10714											
HOXD12	3238	broad.mit.edu	37	chr2	176964901	176964901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcgcccccgagtctagCctggctcctgcagtggctgc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176964901C>T	ENST00000406506.2	+	1	444	c.372C>T	c.(370-372)agC>agT	p.S124S	HOXD12_ENST00000404162.2_Silent_p.S124S			P35452	HXD12_HUMAN	homeobox D12	124						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCGAGTCTAGCCTGGCTCCTG	0.677													False	0	False	2:176964901	0	T	176964901	C	T	176964901	2	4	88	1	0	0	0	0	0	0	0	1	7368	738	26	2		2	HOXD12	2	176964901	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231	176964901	66234472	3003	10715											
HOXD12	3238	broad.mit.edu	37	chr2	176965333	176965333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agattgcggagttggagaacGaattcctcgtcaacgaattc	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176965333G>A	ENST00000406506.2	+	2	730	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	HOXD12_ENST00000404162.2_Missense_Mutation_p.R229Q			P35452	HXD12_HUMAN	homeobox D12	220						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GTTGGAGAACGAATTCCTCGT	0.567													False	0	False	2:176965333	0	A	176965333	G	A	176965333	3	1	88	1	0	0	0	0	1	0	0	0	7368	1059	37	1	664	1	HOXD12	2	176965333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432	176965333	66234040	3004	10716											
HOXD9	3235	broad.mit.edu	37	chr2	176987568	176987568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaactactacgtggactcGcttataggccatgagggcga	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176987568G>A	ENST00000249499.6	+	1	481	c.72G>A	c.(70-72)tcG>tcA	p.S24S	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	24						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ACGTGGACTCGCTTATAGGCC	0.687													False	0	False	2:176987568	0	A	176987568	G	A	176987568	2	1	88	1	0	0	0	0	0	0	0	1	7373	1074	38	1		1	HOXD9	2	176987568	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22235	176987568	66211805	3005	10717											
HOXD8	3234	broad.mit.edu	37	chr2	176995386	176995386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtacttccaccccggcGggggcagcccggccgctgcc	15	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176995386G>A	ENST00000313173.4	+	1	919	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	HOXD8_ENST00000429017.1_Intron|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000544999.1_Missense_Mutation_p.G98R|HOXD8_ENST00000450510.2_Missense_Mutation_p.G98R	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	98					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCACCCCGGCGGGGGCAGCCC	0.796													False	0	True	2:176995386	0	A	176995386	G	A	176995386	3	1	88	1	0	0	0	0	1	0	0	0	7372	1116	39	1	294	1	HOXD8	2	176995386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7818	176995386	66203987	3006	10718											
HOXD4	3233	broad.mit.edu	37	chr2	177016490	177016490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacggcggcggcgcgcagggCgcagacttccagcccccggg	17	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:177016490C>T	ENST00000306324.3	+	1	541	c.129C>T	c.(127-129)ggC>ggT	p.G43G	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	43						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCGCGCAGGGCGCAGACTTCC	0.716													False	0	True	2:177016490	0	T	177016490	C	T	177016490	2	4	88	1	0	0	0	0	0	0	0	1	7371	755	27	1		1	HOXD4	2	177016490	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21104	177016490	66182883	3007	10719											
TTC30B	150737	broad.mit.edu	37	chr2	178415760	178415760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccaggtgtctgttcccaGctttttgttgtaaggttcca	9	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178415760G>A	ENST00000408939.3	-	1	1982	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TCTGTTCCCAGCTTTTTGTTG	0.368													False	0	False	2:178415760	0	A	178415760	G	A	178415760	2	1	88	1	0	0	0	0	0	0	0	1	16783	962	34	2		2	TTC30B	2	178415760	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1399270	178415760	64783613	3008	10720											
TTC30A	92104	broad.mit.edu	37	chr2	178482197	178482197	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcatattcattcactgcCtttttgatagcttcatcatc	3	11	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178482197C>A	ENST00000355689.5	-	1	1497	c.1233G>T	c.(1231-1233)aaG>aaT	p.K411N	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A						cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CATTCACTGCCTTTTTGATAG	0.428													False	0	True	2:178482197	0	A	178482197	C	A	178482197	3	1	88	1	0	0	0	0	1	0	0	0	16782	680	24	3	768	3	TTC30A	2	178482197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66437	178482197	64717176	3009	10721											
TTC30A	92104	broad.mit.edu	37	chr2	178483101	178483101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggacccggctgtggtagGcggggttatccaggagaagg	20	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178483101G>A	ENST00000355689.5	-	1	593	c.329C>T	c.(328-330)gCc>gTc	p.A110V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A						cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GCTGTGGTAGGCGGGGTTATC	0.637													False	0	False	2:178483101	0	A	178483101	G	A	178483101	3	1	88	1	0	0	0	0	1	0	0	0	16782	1203	42	2	1672	2	TTC30A	2	178483101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	904	178483101	64716272	3010	10722											
TTC30A	92104	broad.mit.edu	37	chr2	178483364	178483364	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcggcgtagcgggcatcgcgGatgagccggtacactagcgc	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178483364G>T	ENST00000355689.5	-	1	330	c.66C>A	c.(64-66)atC>atA	p.I22I		NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A						cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGGCATCGCGGATGAGCCGGT	0.672													False	0	False	2:178483364	0	T	178483364	G	T	178483364	2	4	88	1	0	0	0	0	0	0	0	1	16782	1164	41	3		3	TTC30A	2	178483364	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	178483364	64716009	3011	10723											
PDE11A	50940	broad.mit.edu	37	chr2	178592804	178592804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagctccatgaacatccGgagagcagctgtgatcatgg	11	13	1	3	rs142279060		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178592804G>A	ENST00000286063.6	-	11	2202	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W	PDE11A_ENST00000449286.2_Missense_Mutation_p.R271W|PDE11A_ENST00000358450.4_Missense_Mutation_p.R379W|PDE11A_ENST00000409504.1_Missense_Mutation_p.R271W|PDE11A_ENST00000389683.3_Missense_Mutation_p.R185W|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATGAACATCCGGAGAGCAGCT	0.468									Primary Pigmented Nodular Adrenocortical Disease, Familial				False	0	False	2:178592804	0	A	178592804	G	A	178592804	3	1	88	1	0	0	0	0	1	0	0	0	11699	1115	39	1	956	1	PDE11A	2	178592804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109440	178592804	64606569	3012	10724											
RBM45	129831	broad.mit.edu	37	chr2	178977542	178977542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagatgcatggccagtGcctcggccccaacgacacca	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178977542G>A	ENST00000286070.5	+	1	361	c.269G>A	c.(268-270)tGc>tAc	p.C90Y		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	90	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CATGGCCAGTGCCTCGGCCCC	0.657													False	0	False	2:178977542	0	A	178977542	G	A	178977542	3	1	88	1	0	0	0	0	1	0	0	0	13218	1319	46	2	271	2	RBM45	2	178977542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	384738	178977542	64221831	3013	10725											
OSBPL6	114880	broad.mit.edu	37	chr2	179192982	179192982	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttttcttcttttctctcaGgaagctgacagctgggaaat	9	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179192982G>A	ENST00000190611.4	+	5	571		c.e5-1		OSBPL6_ENST00000315022.2_Splice_Site|OSBPL6_ENST00000359685.3_Splice_Site|OSBPL6_ENST00000477097.1_Splice_Site|OSBPL6_ENST00000392505.2_Splice_Site|OSBPL6_ENST00000409631.1_Splice_Site|OSBPL6_ENST00000409045.3_Splice_Site|OSBPL6_ENST00000357080.4_Splice_Site	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6						lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTTTCTCTCAGGAAGCTGACA	0.393													False	0	False	2:179192982	0	A	179192982	G	A	179192982	5	1	88	1	0	0	0	0	0	0	1	0	11349	1014	35	2	248	2	OSBPL6	2	179192982	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215440	179192982	64006391	3014	10726											
OSBPL6	114880	broad.mit.edu	37	chr2	179248841	179248841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtaagccattcaacccaGtccttggggagacttatgaa	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179248841G>T	ENST00000190611.4	+	18	2327	c.1951G>T	c.(1951-1953)Gtc>Ttc	p.V651F	OSBPL6_ENST00000315022.2_Missense_Mutation_p.V655F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.V615F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.V676F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.V615F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.V620F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	651					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATTCAACCCAGTCCTTGGGGA	0.448													False	0	False	2:179248841	0	T	179248841	G	T	179248841	3	4	88	1	0	0	0	0	1	0	0	0	11349	1029	36	3	2135	3	OSBPL6	2	179248841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55859	179248841	63950532	3015	10727											
OSBPL6	114880	broad.mit.edu	37	chr2	179253867	179253867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtttgcatttgcaaacTcacatttgtcaaggtaaata	7	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179253867T>C	ENST00000190611.4	+	21	2664	c.2288T>C	c.(2287-2289)cTc>cCc	p.L763P	OSBPL6_ENST00000315022.2_Missense_Mutation_p.L767P|OSBPL6_ENST00000359685.3_Missense_Mutation_p.L727P|OSBPL6_ENST00000392505.2_Missense_Mutation_p.L788P|OSBPL6_ENST00000409631.1_Missense_Mutation_p.L727P|OSBPL6_ENST00000409045.3_Missense_Mutation_p.L732P	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	763					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATTTGCAAACTCACATTTGTC	0.338													False	0	False	2:179253867	0	C	179253867	T	C	179253867	3	2	88	1	0	0	0	0	1	0	0	0	11349	1551	54	4	2484	4	OSBPL6	2	179253867	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5026	179253867	63945506	3016	10728											
FKBP7	51661	broad.mit.edu	37	chr2	179341872	179341872	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatatctgtcatagcaatgTctaggccttttatgacttgc	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179341872T>G	ENST00000424785.2	-	2	348	c.290A>C	c.(289-291)gAc>gCc	p.D97A	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.D97A	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	97	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CATAGCAATGTCTAGGCCTTT	0.398													False	0	False	2:179341872	0	G	179341872	T	G	179341872	3	3	88	1	0	0	0	0	1	0	0	0	5953	1667	58	4	390	4	FKBP7	2	179341872	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88005	179341872	63857501	3017	10729											
TTN	7273	broad.mit.edu	37	chr2	179393838	179393838	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgacatcttaatttcttcaGaccttagggctttttgggaa	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179393838G>T	ENST00000589042.1	-	360	106864	c.106640C>A	c.(106639-106641)tCt>tAt	p.S35547Y	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26674Y|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S33906Y|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26607Y|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26482Y|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S32979Y|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33906							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTCTTCAGACCTTAGGGC	0.393													False	0	False	2:179393838	0	T	179393838	G	T	179393838	3	4	88	1	0	0	0	0	1	0	0	0	16819	942	33	3	1351	3	TTN	2	179393838	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51966	179393838	63805535	3018	10730											
TTN	7273	broad.mit.edu	37	chr2	179395508	179395508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagagactgggaggtgCtgaactttctctgttggtgt	17	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179395508C>T	ENST00000589042.1	-	358	106058	c.105834G>A	c.(105832-105834)caG>caA	p.Q35278Q	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Silent_p.Q26405Q|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000591111.1_Silent_p.Q33637Q|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.Q26338Q|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000460472.2_Silent_p.Q26213Q|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.Q32710Q|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33637							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGGAGGTGCTGAACTTTCT	0.458													False	0	False	2:179395508	0	T	179395508	C	T	179395508	2	4	88	1	0	0	0	0	0	0	0	1	16819	796	28	2		2	TTN	2	179395508	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1670	179395508	63803865	3019	10731											
TTN	7273	broad.mit.edu	37	chr2	179396193	179396193	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagctcagggaaaacagatCtggggacctcttcatctctg	10	11	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179396193C>A	ENST00000589042.1	-	358	105373	c.105149G>T	c.(105148-105150)aGa>aTa	p.R35050I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26177I|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R33409I|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26110I|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25985I|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32482I|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33409							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAAACAGATCTGGGGACCTC	0.473													False	0	False	2:179396193	0	A	179396193	C	A	179396193	3	1	88	1	0	0	0	0	1	0	0	0	16819	913	32	3	2850	3	TTN	2	179396193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	685	179396193	63803180	3020	10732											
TTN	7273	broad.mit.edu	37	chr2	179396844	179396844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtctcagtagtctagacGcagatgaggatgattctctt	11	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179396844G>A	ENST00000589042.1	-	358	104722	c.104498C>T	c.(104497-104499)gCg>gTg	p.A34833V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A25960V|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A33192V|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A25893V|TTN_ENST00000460472.2_Missense_Mutation_p.A25768V|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32265V|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33192							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTCTAGACGCAGATGAGGA	0.453													False	0	False	2:179396844	0	A	179396844	G	A	179396844	3	1	88	1	0	0	0	0	1	0	0	0	16819	1087	38	1	3501	1	TTN	2	179396844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	651	179396844	63802529	3021	10733											
TTN	7273	broad.mit.edu	37	chr2	179401007	179401007	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctgaattgggacatcAgatttgggagtgatgggttc	16	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179401007A>G	ENST00000589042.1	-	357	100691	c.100467T>C	c.(100465-100467)tcT>tcC	p.S33489S	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.S24616S|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000591111.1_Silent_p.S31848S|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.S24549S|TTN_ENST00000460472.2_Silent_p.S24424S|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.S30921S|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31848	Ig-like 147.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGACATCAGATTTGGGAG	0.413													False	0	False	2:179401007	0	G	179401007	A	G	179401007	2	3	88	1	0	0	0	0	0	0	0	1	16819	175	7	4		4	TTN	2	179401007	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4163	179401007	63798366	3022	10734											
TTN	7273	broad.mit.edu	37	chr2	179403534	179403534	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actatctttggatattgaaaGaatctcaagttctcctggtt	7	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179403534G>A	ENST00000589042.1	-	354	99246	c.99022C>T	c.(99022-99024)Ctt>Ttt	p.L33008F	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24135F|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L31367F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24068F|TTN_ENST00000460472.2_Missense_Mutation_p.L23943F|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30440F|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31367							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATATTGAAAGAATCTCAAGT	0.373													False	0	True	2:179403534	0	A	179403534	G	A	179403534	3	1	88	1	0	0	0	0	1	0	0	0	16819	942	33	2	8993	2	TTN	2	179403534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2527	179403534	63795839	3023	10735											
TTN	7273	broad.mit.edu	37	chr2	179403774	179403774	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgatactcagcatcgggaAcaagccctgtgacagtgtac	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179403774A>C	ENST00000589042.1	-	353	99112	c.98888T>G	c.(98887-98889)gTt>gGt	p.V32963G	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V24090G|TTN_ENST00000591111.1_Missense_Mutation_p.V31322G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24023G|TTN_ENST00000460472.2_Missense_Mutation_p.V23898G|TTN_ENST00000342992.6_Missense_Mutation_p.V30395G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31322							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCATCGGGAACAAGCCCTGT	0.488													False	0	False	2:179403774	0	C	179403774	A	C	179403774	3	2	88	1	0	0	0	0	1	0	0	0	16819	43	2	4	9131	4	TTN	2	179403774	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	240	179403774	63795599	3024	10736											
TTN	7273	broad.mit.edu	37	chr2	179407472	179407472	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attctccagtatctctgataGtggtttcacggatggttaat	9	7	3	1	rs146098114	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179407472G>T	ENST00000589042.1	-	348	97333	c.97109C>A	c.(97108-97110)aCt>aAt	p.T32370N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T23497N|TTN_ENST00000591111.1_Missense_Mutation_p.T30729N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T23430N|TTN_ENST00000460472.2_Missense_Mutation_p.T23305N|TTN_ENST00000342992.6_Missense_Mutation_p.T29802N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30729	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTCTGATAGTGGTTTCACG	0.393													False	0	False	2:179407472	0	T	179407472	G	T	179407472	3	4	88	1	0	0	0	0	1	0	0	0	16819	1029	36	3	10930	3	TTN	2	179407472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3698	179407472	63791901	3025	10737											
TTN	7273	broad.mit.edu	37	chr2	179411070	179411070	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtttgccagtatactgcaaaGagactttttcacagagatct	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179411070G>T	ENST00000589042.1	-	342	95212	c.94988C>A	c.(94987-94989)tCt>tAt	p.S31663Y	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22790Y|TTN_ENST00000591111.1_Missense_Mutation_p.S30022Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22723Y|TTN_ENST00000460472.2_Missense_Mutation_p.S22598Y|TTN_ENST00000342992.6_Missense_Mutation_p.S29095Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30022	Fibronectin type-III 130.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTGCAAAGAGACTTTTTC	0.448													False	0	True	2:179411070	0	T	179411070	G	T	179411070	3	4	88	1	0	0	0	0	1	0	0	0	16819	942	33	3	13075	3	TTN	2	179411070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3598	179411070	63788303	3026	10738											
TTN	7273	broad.mit.edu	37	chr2	179412905	179412905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccttttgtctcatttcaaGcaggtagccagtgatccggc	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179412905G>A	ENST00000589042.1	-	339	93672	c.93448C>T	c.(93448-93450)Ctt>Ttt	p.L31150F	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L22277F|TTN_ENST00000591111.1_Missense_Mutation_p.L29509F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L22210F|TTN_ENST00000460472.2_Missense_Mutation_p.L22085F|TTN_ENST00000342992.6_Missense_Mutation_p.L28582F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29509	Ig-like 139.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCATTTCAAGCAGGTAGCCA	0.463													False	0	False	2:179412905	0	A	179412905	G	A	179412905	3	1	88	1	0	0	0	0	1	0	0	0	16819	971	34	2	14627	2	TTN	2	179412905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1835	179412905	63786468	3027	10739											
TTN	7273	broad.mit.edu	37	chr2	179414764	179414764	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaccagatgcatttttggCttccactgtgtatacaccac	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179414764C>A	ENST00000589042.1	-	337	92025	c.91801G>T	c.(91801-91803)Gcc>Tcc	p.A30601S	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21728S|TTN_ENST00000591111.1_Missense_Mutation_p.A28960S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21661S|TTN_ENST00000460472.2_Missense_Mutation_p.A21536S|TTN_ENST00000342992.6_Missense_Mutation_p.A28033S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28960	Fibronectin type-III 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATTTTTGGCTTCCACTGTG	0.383													False	0	False	2:179414764	0	A	179414764	C	A	179414764	3	1	88	1	0	0	0	0	1	0	0	0	16819	797	28	3	16282	3	TTN	2	179414764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1859	179414764	63784609	3028	10740											
TTN	7273	broad.mit.edu	37	chr2	179417271	179417271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagttctttcactgtaattGgcccaatagtgacaggatca	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179417271G>A	ENST00000589042.1	-	335	90580	c.90356C>T	c.(90355-90357)cCa>cTa	p.P30119L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P21246L|TTN_ENST00000591111.1_Missense_Mutation_p.P28478L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P21179L|TTN_ENST00000460472.2_Missense_Mutation_p.P21054L|TTN_ENST00000342992.6_Missense_Mutation_p.P27551L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28478	Fibronectin type-III 119.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGTAATTGGCCCAATAGT	0.438													False	0	False	2:179417271	0	A	179417271	G	A	179417271	3	1	88	1	0	0	0	0	1	0	0	0	16819	1348	47	2	17735	2	TTN	2	179417271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2507	179417271	63782102	3029	10741											
TTN	7273	broad.mit.edu	37	chr2	179418655	179418655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttaccaataggatcagcaGctttgtagaattcagatggt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179418655G>A	ENST00000589042.1	-	333	89407	c.89183C>T	c.(89182-89184)gCt>gTt	p.A29728V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20855V|TTN_ENST00000591111.1_Missense_Mutation_p.A28087V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20788V|TTN_ENST00000460472.2_Missense_Mutation_p.A20663V|TTN_ENST00000342992.6_Missense_Mutation_p.A27160V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28087	Fibronectin type-III 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGATCAGCAGCTTTGTAGAA	0.398													False	0	False	2:179418655	0	A	179418655	G	A	179418655	3	1	88	1	0	0	0	0	1	0	0	0	16819	971	34	2	18916	2	TTN	2	179418655	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1384	179418655	63780718	3030	10742											
TTN	7273	broad.mit.edu	37	chr2	179418886	179418886	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggcctgctccatacaacaGtcatcgaattcttggtaatc	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179418886G>T	ENST00000589042.1	-	333	89176	c.88952C>A	c.(88951-88953)aCt>aAt	p.T29651N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T20778N|TTN_ENST00000591111.1_Missense_Mutation_p.T28010N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T20711N|TTN_ENST00000460472.2_Missense_Mutation_p.T20586N|TTN_ENST00000342992.6_Missense_Mutation_p.T27083N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28010	Ig-like 135.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATACAACAGTCATCGAATT	0.418													False	0	False	2:179418886	0	T	179418886	G	T	179418886	3	4	88	1	0	0	0	0	1	0	0	0	16819	1029	36	3	19147	3	TTN	2	179418886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	231	179418886	63780487	3031	10743											
TTN	7273	broad.mit.edu	37	chr2	179419371	179419371	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgcttttccacaatgtagTgagtgatttttgcaccacca	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179419371T>C	ENST00000589042.1	-	332	88927	c.88703A>G	c.(88702-88704)cAc>cGc	p.H29568R	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H20695R|TTN_ENST00000591111.1_Missense_Mutation_p.H27927R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H20628R|TTN_ENST00000460472.2_Missense_Mutation_p.H20503R|TTN_ENST00000342992.6_Missense_Mutation_p.H27000R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27927	Ig-like 135.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAATGTAGTGAGTGATTTT	0.468													False	0	True	2:179419371	0	C	179419371	T	C	179419371	3	2	88	1	0	0	0	0	1	0	0	0	16819	1696	59	4	19400	4	TTN	2	179419371	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	485	179419371	63780002	3032	10744											
TTN	7273	broad.mit.edu	37	chr2	179419672	179419672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagcatccactattaaggCgatcggcatctttgatgagt	9	9	1	2	rs143193258	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179419672C>T	ENST00000589042.1	-	331	88738	c.88514G>A	c.(88513-88515)cGc>cAc	p.R29505H	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R20632H|TTN_ENST00000591111.1_Missense_Mutation_p.R27864H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20565H|TTN_ENST00000460472.2_Missense_Mutation_p.R20440H|TTN_ENST00000342992.6_Missense_Mutation_p.R26937H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27864	Fibronectin type-III 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTATTAAGGCGATCGGCATC	0.428													False	0	False	2:179419672	0	T	179419672	C	T	179419672	3	4	88	1	0	0	0	0	1	0	0	0	16819	768	27	1	19593	1	TTN	2	179419672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	301	179419672	63779701	3033	10745											
TTN	7273	broad.mit.edu	37	chr2	179422791	179422791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgatggtcaggttctcaGcagtaatttcggtattaaat	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179422791G>A	ENST00000589042.1	-	328	87514	c.87290C>T	c.(87289-87291)gCt>gTt	p.A29097V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20224V|TTN_ENST00000591111.1_Missense_Mutation_p.A27456V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20157V|TTN_ENST00000460472.2_Missense_Mutation_p.A20032V|TTN_ENST00000342992.6_Missense_Mutation_p.A26529V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27456	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTTCTCAGCAGTAATTTC	0.433													False	0	False	2:179422791	0	A	179422791	G	A	179422791	3	1	88	1	0	0	0	0	1	0	0	0	16819	971	34	2	20829	2	TTN	2	179422791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3119	179422791	63776582	3034	10746											
TTN	7273	broad.mit.edu	37	chr2	179425926	179425926	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagttcagttacttcaaaGtatgtttcttgtatattagt	7	4	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179425926G>A	ENST00000589042.1	-	326	85157	c.84933C>T	c.(84931-84933)taC>taT	p.Y28311Y	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.Y19438Y|TTN_ENST00000591111.1_Silent_p.Y26670Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.Y19371Y|TTN_ENST00000460472.2_Silent_p.Y19246Y|TTN_ENST00000342992.6_Silent_p.Y25743Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26670	Fibronectin type-III 106.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACTTCAAAGTATGTTTCTT	0.428													False	0	True	2:179425926	0	A	179425926	G	A	179425926	2	1	88	1	0	0	0	0	0	0	0	1	16819	1024	36	2		2	TTN	2	179425926	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3135	179425926	63773447	3035	10747											
TTN	7273	broad.mit.edu	37	chr2	179430078	179430078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtagctgtttcttcaacGtttactcttgttgtctgttt	9	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179430078G>A	ENST00000589042.1	-	326	81005	c.80781C>T	c.(80779-80781)aaC>aaT	p.N26927N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN_ENST00000591111.1_Silent_p.N25286N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.N17987N|TTN_ENST00000460472.2_Silent_p.N17862N|TTN_ENST00000342992.6_Silent_p.N24359N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25286	Fibronectin type-III 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTCAACGTTTACTCTTG	0.393													False	0	True	2:179430078	0	A	179430078	G	A	179430078	2	1	88	1	0	0	0	0	0	0	0	1	16819	1136	40	1		1	TTN	2	179430078	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4152	179430078	63769295	3036	10748											
TTN	7273	broad.mit.edu	37	chr2	179430453	179430453	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgccatcatgttcaggtttCtcccacataagtgatgcact	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179430453C>A	ENST00000589042.1	-	326	80630	c.80406G>T	c.(80404-80406)gaG>gaT	p.E26802D	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17929D|TTN_ENST00000591111.1_Missense_Mutation_p.E25161D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17862D|TTN_ENST00000460472.2_Missense_Mutation_p.E17737D|TTN_ENST00000342992.6_Missense_Mutation_p.E24234D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25161							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCAGGTTTCTCCCACATAA	0.493													False	0	True	2:179430453	0	A	179430453	C	A	179430453	3	1	88	1	0	0	0	0	1	0	0	0	16819	912	32	3	27721	3	TTN	2	179430453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375	179430453	63768920	3037	10749											
TTN	7273	broad.mit.edu	37	chr2	179433050	179433050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaaacaacatcccataCtgtggtggttgtatctcttt	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433050C>T	ENST00000589042.1	-	326	78033	c.77809G>A	c.(77809-77811)Gta>Ata	p.V25937I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17064I|TTN_ENST00000591111.1_Missense_Mutation_p.V24296I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16997I|TTN_ENST00000460472.2_Missense_Mutation_p.V16872I|TTN_ENST00000342992.6_Missense_Mutation_p.V23369I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24296	Fibronectin type-III 89.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATCCCATACTGTGGTGGTT	0.393													False	0	False	2:179433050	0	T	179433050	C	T	179433050	3	4	88	1	0	0	0	0	1	0	0	0	16819	565	20	2	30318	2	TTN	2	179433050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2597	179433050	63766323	3038	10750											
TTN	7273	broad.mit.edu	37	chr2	179433683	179433683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatgattttactgccacCatcatgttcaggttttgtcc	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433683C>T	ENST00000589042.1	-	326	77400	c.77176G>A	c.(77176-77178)Ggt>Agt	p.G25726S	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16853S|TTN_ENST00000591111.1_Missense_Mutation_p.G24085S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16786S|TTN_ENST00000460472.2_Missense_Mutation_p.G16661S|TTN_ENST00000342992.6_Missense_Mutation_p.G23158S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24085							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACTGCCACCATCATGTTCA	0.413													False	0	False	2:179433683	0	T	179433683	C	T	179433683	3	4	88	1	0	0	0	0	1	0	0	0	16819	594	21	2	30951	2	TTN	2	179433683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	633	179433683	63765690	3039	10751											
TTN	7273	broad.mit.edu	37	chr2	179433938	179433938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattttcttgtggcttcacGtttctcaacaatgtaatttt	6	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433938G>A	ENST00000589042.1	-	326	77145	c.76921C>T	c.(76921-76923)Cgt>Tgt	p.R25641C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16768C|TTN_ENST00000591111.1_Missense_Mutation_p.R24000C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16701C|TTN_ENST00000460472.2_Missense_Mutation_p.R16576C|TTN_ENST00000342992.6_Missense_Mutation_p.R23073C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24000	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGCTTCACGTTTCTCAACA	0.378													False	0	True	2:179433938	0	A	179433938	G	A	179433938	3	1	88	1	0	0	0	0	1	0	0	0	16819	1145	40	1	31206	1	TTN	2	179433938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	255	179433938	63765435	3040	10752											
TTN	7273	broad.mit.edu	37	chr2	179434671	179434671	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataggatcacaagccttttgGtaagcagaaggagggcttgg	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179434671G>T	ENST00000589042.1	-	326	76412	c.76188C>A	c.(76186-76188)taC>taA	p.Y25396*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y16523*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y23755*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y16456*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y16331*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y22828*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23755	Fibronectin type-III 84.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCCTTTTGGTAAGCAGAAG	0.433													False	0	False	2:179434671	0	T	179434671	G	T	179434671	4	4	88	1	0	0	0	0	0	1	0	0	16819	1256	44	3	31939	3	TTN	2	179434671	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	733	179434671	63764702	3041	10753											
TTN	7273	broad.mit.edu	37	chr2	179442498	179442498	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggctttcatccaagacttCgaaggtagatctcgcttctc	8	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179442498C>T	ENST00000589042.1	-	323	68879	c.68655G>A	c.(68653-68655)tcG>tcA	p.S22885S	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.S14012S|TTN_ENST00000591111.1_Silent_p.S21244S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.S13945S|TTN_ENST00000460472.2_Silent_p.S13820S|TTN_ENST00000342992.6_Silent_p.S20317S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21244	Fibronectin type-III 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAAGACTTCGAAGGTAGAT	0.393													False	0	False	2:179442498	0	T	179442498	C	T	179442498	2	4	88	1	0	0	0	0	0	0	0	1	16819	871	31	1		1	TTN	2	179442498	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7827	179442498	63756875	3042	10754											
TTN	7273	broad.mit.edu	37	chr2	179444459	179444459	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attttcttcagtcaggaaatCaactacatatccaataatcc	3	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179444459C>T	ENST00000589042.1	-	319	67689	c.67465G>A	c.(67465-67467)Gat>Aat	p.D22489N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13616N|TTN_ENST00000591111.1_Missense_Mutation_p.D20848N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13549N|TTN_ENST00000460472.2_Missense_Mutation_p.D13424N|TTN_ENST00000342992.6_Missense_Mutation_p.D19921N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20848	Fibronectin type-III 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCAGGAAATCAACTACATAT	0.413													False	0	False	2:179444459	0	T	179444459	C	T	179444459	3	4	88	1	0	0	0	0	1	0	0	0	16819	826	29	2	40690	2	TTN	2	179444459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1961	179444459	63754914	3043	10755											
TTN	7273	broad.mit.edu	37	chr2	179454805	179454805	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccactgctgttcttagctgaGatgatatacttgccatgatc	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179454805G>T	ENST00000589042.1	-	304	61871	c.61647C>A	c.(61645-61647)atC>atA	p.I20549I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.I11676I|TTN_ENST00000591111.1_Silent_p.I18908I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.I11609I|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Silent_p.I11484I|TTN_ENST00000342992.6_Silent_p.I17981I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18908	Fibronectin type-III 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTAGCTGAGATGATATACT	0.448													False	0	False	2:179454805	0	T	179454805	G	T	179454805	2	4	88	1	0	0	0	0	0	0	0	1	16819	932	33	3		3	TTN	2	179454805	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10346	179454805	63744568	3044	10756											
TTN	7273	broad.mit.edu	37	chr2	179454840	179454840	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgatcagctctaacagcttCtttaatttgtaactcaacac	4	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179454840C>A	ENST00000589042.1	-	304	61836	c.61612G>T	c.(61612-61614)Gaa>Taa	p.E20538*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E11665*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E18897*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E11598*|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E11473*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E17970*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18897	Fibronectin type-III 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAACAGCTTCTTTAATTTGT	0.448													False	0	True	2:179454840	0	A	179454840	C	A	179454840	4	1	88	1	0	0	0	0	0	1	0	0	16819	922	32	3	46603	3	TTN	2	179454840	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	179454840	63744533	3045	10757											
TTN	7273	broad.mit.edu	37	chr2	179456819	179456819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcattcagatgcttagCgaagtgactctttttctttg	8	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179456819C>T	ENST00000589042.1	-	302	60036	c.59812G>A	c.(59812-59814)Gct>Act	p.A19938T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11065T|TTN_ENST00000591111.1_Missense_Mutation_p.A18297T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10998T|TTN_ENST00000460472.2_Missense_Mutation_p.A10873T|TTN_ENST00000342992.6_Missense_Mutation_p.A17370T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18297	Fibronectin type-III 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATGCTTAGCGAAGTGACTC	0.473													False	0	False	2:179456819	0	T	179456819	C	T	179456819	3	4	88	1	0	0	0	0	1	0	0	0	16819	768	27	1	48411	1	TTN	2	179456819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1979	179456819	63742554	3046	10758											
TTN	7273	broad.mit.edu	37	chr2	179457732	179457732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgctcccaccatcatgaCgtggtggctgccaagttaga	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179457732C>T	ENST00000589042.1	-	300	59338	c.59114G>A	c.(59113-59115)cGt>cAt	p.R19705H	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10832H|TTN_ENST00000591111.1_Missense_Mutation_p.R18064H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10765H|TTN_ENST00000460472.2_Missense_Mutation_p.R10640H|TTN_ENST00000342992.6_Missense_Mutation_p.R17137H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18064	Fibronectin type-III 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATCATGACGTGGTGGCTG	0.418													False	0	False	2:179457732	0	T	179457732	C	T	179457732	3	4	88	1	0	0	0	0	1	0	0	0	16819	536	19	1	49117	1	TTN	2	179457732	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	913	179457732	63741641	3047	10759											
TTN	7273	broad.mit.edu	37	chr2	179458402	179458402	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttttccttcaagtagtttaGaaactttgcatgttgtttta	6	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179458402G>A	ENST00000589042.1	-	298	58849	c.58625C>T	c.(58624-58626)tCt>tTt	p.S19542F	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S10669F|TTN_ENST00000591111.1_Missense_Mutation_p.S17901F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S10602F|TTN_ENST00000460472.2_Missense_Mutation_p.S10477F|TTN_ENST00000342992.6_Missense_Mutation_p.S16974F|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17901	Ig-like 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTAGTTTAGAAACTTTGCA	0.368													False	0	True	2:179458402	0	A	179458402	G	A	179458402	3	1	88	1	0	0	0	0	1	0	0	0	16819	942	33	2	49614	2	TTN	2	179458402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	670	179458402	63740971	3048	10760											
TTN	7273	broad.mit.edu	37	chr2	179458929	179458929	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagcttcaccaactcgaatCgtgagcttatctctgaagtc	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179458929C>T	ENST00000589042.1	-	297	58415	c.58191G>A	c.(58189-58191)acG>acA	p.T19397T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.T10524T|TTN_ENST00000591111.1_Silent_p.T17756T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.T10457T|TTN_ENST00000460472.2_Silent_p.T10332T|TTN_ENST00000342992.6_Silent_p.T16829T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17756	Fibronectin type-III 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACTCGAATCGTGAGCTTAT	0.418													False	0	False	2:179458929	0	T	179458929	C	T	179458929	2	4	88	1	0	0	0	0	0	0	0	1	16819	871	31	1		1	TTN	2	179458929	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	527	179458929	63740444	3049	10761											
TTN	7273	broad.mit.edu	37	chr2	179462481	179462481	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacataggcaatgattcggaTcacccctccagcatggacaa	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179462481T>A	ENST00000589042.1	-	294	57552	c.57328A>T	c.(57328-57330)Atc>Ttc	p.I19110F	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I10237F|TTN_ENST00000591111.1_Missense_Mutation_p.I17469F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I10170F|TTN_ENST00000460472.2_Missense_Mutation_p.I10045F|TTN_ENST00000342992.6_Missense_Mutation_p.I16542F|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17469	Fibronectin type-III 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATTCGGATCACCCCTCCA	0.453													False	0	False	2:179462481	0	A	179462481	T	A	179462481	3	1	88	1	0	0	0	0	1	0	0	0	16819	1435	50	5		5	TTN	2	179462481	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3552	179462481	63736892	3050	10762											
TTN	7273	broad.mit.edu	37	chr2	179462653	179462653	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaagtctgtccttcatttCaatgacatctgtgacctctc	5	13	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179462653C>T	ENST00000589042.1	-	293	57468	c.57244G>A	c.(57244-57246)Gaa>Aaa	p.E19082K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10209K|TTN_ENST00000591111.1_Missense_Mutation_p.E17441K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10142K|TTN_ENST00000460472.2_Missense_Mutation_p.E10017K|TTN_ENST00000342992.6_Missense_Mutation_p.E16514K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17441	Fibronectin type-III 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTCATTTCAATGACATCT	0.373													False	0	True	2:179462653	0	T	179462653	C	T	179462653	3	4	88	1	0	0	0	0	1	0	0	0	16819	835	29	2	50729	2	TTN	2	179462653	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172	179462653	63736720	3051	10763											
TTN	7273	broad.mit.edu	37	chr2	179463744	179463744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgacagtcatggagttaCgagtcacgctgctaactgtt	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179463744C>T	ENST00000589042.1	-	291	56917	c.56693G>A	c.(56692-56694)cGt>cAt	p.R18898H	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10025H|TTN_ENST00000591111.1_Missense_Mutation_p.R17257H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9958H|TTN_ENST00000460472.2_Missense_Mutation_p.R9833H|TTN_ENST00000342992.6_Missense_Mutation_p.R16330H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17257	Ig-like 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGAGTTACGAGTCACGCT	0.418													False	0	False	2:179463744	0	T	179463744	C	T	179463744	3	4	88	1	0	0	0	0	1	0	0	0	16819	536	19	1	51288	1	TTN	2	179463744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1091	179463744	63735629	3052	10764											
TTN	7273	broad.mit.edu	37	chr2	179465822	179465822	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggagcccccatcattcttCgggggtttccatgacagatg	13	11	2	2	rs35647804		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179465822C>T	ENST00000589042.1	-	288	56033	c.55809G>A	c.(55807-55809)ccG>ccA	p.P18603P	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.P9730P|TTN_ENST00000591111.1_Silent_p.P16962P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.P9663P|TTN_ENST00000460472.2_Silent_p.P9538P|TTN_ENST00000342992.6_Silent_p.P16035P|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16962	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCATTCTTCGGGGGTTTCC	0.458													False	0	True	2:179465822	0	T	179465822	C	T	179465822	2	4	88	1	0	0	0	0	0	0	0	1	16819	871	31	1		1	TTN	2	179465822	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2078	179465822	63733551	3053	10765											
TTN	7273	broad.mit.edu	37	chr2	179466617	179466617	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttatttttttacctgtgcatCttcgggtatgtcatgaactc	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179466617C>T	ENST00000589042.1	-	285	55518	c.55294G>A	c.(55294-55296)Gat>Aat	p.D18432N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9559N|TTN_ENST00000591111.1_Missense_Mutation_p.D16791N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9492N|TTN_ENST00000460472.2_Missense_Mutation_p.D9367N|TTN_ENST00000342992.6_Missense_Mutation_p.D15864N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16791							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			aCCTGTGCATCTTCGGGTATG	0.308													False	0	False	2:179466617	0	T	179466617	C	T	179466617	3	4	88	1	0	0	0	0	1	0	0	0	16819	913	32	2	52711	2	TTN	2	179466617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	795	179466617	63732756	3054	10766											
TTN	7273	broad.mit.edu	37	chr2	179469867	179469867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttggttatctgaagtgCatcagtgggtttttcaatta	9	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179469867C>T	ENST00000589042.1	-	280	54261	c.54037G>A	c.(54037-54039)Gca>Aca	p.A18013T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A9140T|TTN_ENST00000591111.1_Missense_Mutation_p.A16372T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9073T|TTN_ENST00000460472.2_Missense_Mutation_p.A8948T|TTN_ENST00000342992.6_Missense_Mutation_p.A15445T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16372	Fibronectin type-III 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTGAAGTGCATCAGTGGGT	0.478													False	0	False	2:179469867	0	T	179469867	C	T	179469867	3	4	88	1	0	0	0	0	1	0	0	0	16819	710	25	2	53988	2	TTN	2	179469867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3250	179469867	63729506	3055	10767											
TTN	7273	broad.mit.edu	37	chr2	179474270	179474270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctcgtttcacttctaggCttgttctcagaatgactttg	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474270C>A	ENST00000589042.1	-	273	51991	c.51767G>T	c.(51766-51768)aGc>aTc	p.S17256I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S8383I|TTN_ENST00000591111.1_Missense_Mutation_p.S15615I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S8316I|TTN_ENST00000460472.2_Missense_Mutation_p.S8191I|TTN_ENST00000342992.6_Missense_Mutation_p.S14688I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15615	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTCTAGGCTTGTTCTCAG	0.323													False	0	False	2:179474270	0	A	179474270	C	A	179474270	3	1	88	1	0	0	0	0	1	0	0	0	16819	797	28	3	56286	3	TTN	2	179474270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4403	179474270	63725103	3056	10768											
TTN	7273	broad.mit.edu	37	chr2	179474468	179474468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggttcactaatacccgCggcgttctctgctcgcacac	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474468C>T	ENST00000589042.1	-	272	51906	c.51682G>A	c.(51682-51684)Gcg>Acg	p.A17228T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A8355T|TTN_ENST00000591111.1_Missense_Mutation_p.A15587T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A8288T|TTN_ENST00000460472.2_Missense_Mutation_p.A8163T|TTN_ENST00000342992.6_Missense_Mutation_p.A14660T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15587	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAATACCCGCGGCGTTCTCT	0.468													False	0	False	2:179474468	0	T	179474468	C	T	179474468	3	4	88	1	0	0	0	0	1	0	0	0	16819	768	27	1	56375	1	TTN	2	179474468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	179474468	63724905	3057	10769											
TTN	7273	broad.mit.edu	37	chr2	179474553	179474553	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggattggtaccaggtgTtcattgcatctcttccacct	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474553T>C	ENST00000589042.1	-	272	51821	c.51597A>G	c.(51595-51597)gaA>gaG	p.E17199E	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.E8326E|TTN_ENST00000591111.1_Silent_p.E15558E|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.E8259E|TTN_ENST00000460472.2_Silent_p.E8134E|TTN_ENST00000342992.6_Silent_p.E14631E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15558	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACCAGGTGTTCATTGCATC	0.468													False	0	False	2:179474553	0	C	179474553	T	C	179474553	2	2	88	1	0	0	0	0	0	0	0	1	16819	1722	60	4		4	TTN	2	179474553	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	85	179474553	63724820	3058	10770											
TTN	7273	broad.mit.edu	37	chr2	179478614	179478614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccatgtgagagtcactgCgtctttagtgatatcagaag	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179478614C>T	ENST00000589042.1	-	263	49620	c.49396G>A	c.(49396-49398)Gca>Aca	p.A16466T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7593T|TTN_ENST00000591111.1_Missense_Mutation_p.A14825T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7526T|TTN_ENST00000460472.2_Missense_Mutation_p.A7401T|TTN_ENST00000342992.6_Missense_Mutation_p.A13898T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14825	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGTCACTGCGTCTTTAGTG	0.428													False	0	False	2:179478614	0	T	179478614	C	T	179478614	3	4	88	1	0	0	0	0	1	0	0	0	16819	768	27	1	58697	1	TTN	2	179478614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4061	179478614	63720759	3059	10771											
TTN	7273	broad.mit.edu	37	chr2	179481272	179481272	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagttaacggacttcctccAtcatcatcaggtggttccca	7	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179481272A>C	ENST00000589042.1	-	257	48470	c.48246T>G	c.(48244-48246)gaT>gaG	p.D16082E	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7209E|TTN_ENST00000591111.1_Missense_Mutation_p.D14441E|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7142E|TTN_ENST00000460472.2_Missense_Mutation_p.D7017E|TTN_ENST00000342992.6_Missense_Mutation_p.D13514E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14441	Ig-like 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTTCCTCCATCATCATCAG	0.423													False	0	True	2:179481272	0	C	179481272	A	C	179481272	3	2	88	1	0	0	0	0	1	0	0	0	16819	214	8	4	59871	4	TTN	2	179481272	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2658	179481272	63718101	3060	10772											
TTN	7273	broad.mit.edu	37	chr2	179481716	179481716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagaccatctttaaatGcacttaaatccattgttggt	5	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179481716G>A	ENST00000589042.1	-	256	48124	c.47900C>T	c.(47899-47901)gCa>gTa	p.A15967V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7094V|TTN_ENST00000591111.1_Missense_Mutation_p.A14326V|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7027V|TTN_ENST00000460472.2_Missense_Mutation_p.A6902V|TTN_ENST00000342992.6_Missense_Mutation_p.A13399V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14326	Fibronectin type-III 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTTAAATGCACTTAAATC	0.408													False	0	False	2:179481716	0	A	179481716	G	A	179481716	3	1	88	1	0	0	0	0	1	0	0	0	16819	1319	46	2	60221	2	TTN	2	179481716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	444	179481716	63717657	3061	10773											
TTN	7273	broad.mit.edu	37	chr2	179485295	179485295	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttgcaccagaatgtgacaGatttcttctccattgtttca	6	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179485295G>A	ENST00000589042.1	-	248	46177	c.45953C>T	c.(45952-45954)tCt>tTt	p.S15318F	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S6445F|TTN_ENST00000591111.1_Missense_Mutation_p.S13677F|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S6378F|TTN_ENST00000460472.2_Missense_Mutation_p.S6253F|TTN_ENST00000342992.6_Missense_Mutation_p.S12750F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13677	Ig-like 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATGTGACAGATTTCTTCTC	0.358													False	0	False	2:179485295	0	A	179485295	G	A	179485295	3	1	88	1	0	0	0	0	1	0	0	0	16819	942	33	2	62200	2	TTN	2	179485295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3579	179485295	63714078	3062	10774											
TTN	7273	broad.mit.edu	37	chr2	179485684	179485684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgttgttccttcaccCgggtgtccttaagaggaact	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179485684C>T	ENST00000589042.1	-	247	45877	c.45653G>A	c.(45652-45654)cGg>cAg	p.R15218Q	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6345Q|TTN_ENST00000591111.1_Missense_Mutation_p.R13577Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6278Q|TTN_ENST00000460472.2_Missense_Mutation_p.R6153Q|TTN_ENST00000342992.6_Missense_Mutation_p.R12650Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13577	Fibronectin type-III 11.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTCACCCGGGTGTCCTT	0.373													False	0	True	2:179485684	0	T	179485684	C	T	179485684	3	4	88	1	0	0	0	0	1	0	0	0	16819	652	23	1	62504	1	TTN	2	179485684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	389	179485684	63713689	3063	10775											
TTN	7273	broad.mit.edu	37	chr2	179497134	179497134	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggggtgaggaatttgagcCggattcctatcaagaaaaaa	13	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179497134C>A	ENST00000589042.1	-	236	43711	c.43487G>T	c.(43486-43488)cGg>cTg	p.R14496L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5623L|TTN_ENST00000591111.1_Missense_Mutation_p.R12855L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5556L|TTN_ENST00000460472.2_Missense_Mutation_p.R5431L|TTN_ENST00000342992.6_Missense_Mutation_p.R11928L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12855	Fibronectin type-III 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATTTGAGCCGGATTCCTAT	0.343													False	0	False	2:179497134	0	A	179497134	C	A	179497134	3	1	88	1	0	0	0	0	1	0	0	0	16819	652	23	3	64714	3	TTN	2	179497134	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11450	179497134	63702239	3064	10776											
TTN	7273	broad.mit.edu	37	chr2	179500957	179500957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagtgtttttacaaaacGcacaggaagttctatggaga	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179500957G>A	ENST00000589042.1	-	226	41565	c.41341C>T	c.(41341-41343)Cgt>Tgt	p.R13781C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4908C|TTN_ENST00000591111.1_Missense_Mutation_p.R12140C|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4841C|TTN_ENST00000460472.2_Missense_Mutation_p.R4716C|TTN_ENST00000342992.6_Missense_Mutation_p.R11213C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12140	Ig-like 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTACAAAACGCACAGGAAGT	0.358													False	0	False	2:179500957	0	A	179500957	G	A	179500957	3	1	88	1	0	0	0	0	1	0	0	0	16819	1087	38	1	66900	1	TTN	2	179500957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3823	179500957	63698416	3065	10777											
TTN	7273	broad.mit.edu	37	chr2	179507020	179507020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgttccggaagtaatttgCgaactttcttttcacctcca	6	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179507020C>T	ENST00000589042.1	-	219	40726	c.40502G>A	c.(40501-40503)cGc>cAc	p.R13501H	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4628H|TTN_ENST00000591111.1_Missense_Mutation_p.R11860H|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4561H|TTN_ENST00000460472.2_Missense_Mutation_p.R4436H|TTN_ENST00000342992.6_Missense_Mutation_p.R10933H|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11860	Ig-like 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTAATTTGCGAACTTTCTT	0.323													False	0	False	2:179507020	0	T	179507020	C	T	179507020	3	4	88	1	0	0	0	0	1	0	0	0	16819	768	27	1	67767	1	TTN	2	179507020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6063	179507020	63692353	3066	10778											
TTN	7273	broad.mit.edu	37	chr2	179516866	179516866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggaggaatagcttcaggCaccttcttttctgggacagc	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179516866C>T	ENST00000589042.1	-	204	39476	c.39252G>A	c.(39250-39252)gtG>gtA	p.V13084V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.V11577V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V10650V|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11437							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCTTCAGGCACCTTCTTTT	0.348													False	0	False	2:179516866	0	T	179516866	C	T	179516866	2	4	88	1	0	0	0	0	0	0	0	1	16819	697	25	2		2	TTN	2	179516866	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9846	179516866	63682507	3067	10779											
TTN	7273	broad.mit.edu	37	chr2	179528605	179528605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcactttctcttcgcggAtaacctctttggaagcttct	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179528605A>G	ENST00000589042.1	-	170	36613	c.36389T>C	c.(36388-36390)aTc>aCc	p.I12130T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10279	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTTCGCGGATAACCTCTTT	0.418													False	0	False	2:179528605	0	G	179528605	A	G	179528605	3	3	88	1	0	0	0	0	1	0	0	0	16819	348	12	4		4	TTN	2	179528605	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11739	179528605	63670768	3068	10780											
TTN	7273	broad.mit.edu	37	chr2	179547466	179547466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatatcgttcatactcccGctcctcgtattcttcatatt	3	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179547466G>A	ENST00000589042.1	-	135	33276	c.33052C>T	c.(33052-33054)Cgg>Tgg	p.R11018W	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R10701W|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R9774W|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10701	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9774W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATACTCCCGCTCCTCGTAT	0.358													False	0	True	2:179547466	0	A	179547466	G	A	179547466	3	1	88	1	0	0	0	0	1	0	0	0	16819	1086	38	1	71389	1	TTN	2	179547466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18861	179547466	63651907	3069	10781											
TTN	7273	broad.mit.edu	37	chr2	179567333	179567333	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcacactcaaaggtggcaGactgatgctcactcaccacg	8	14	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179567333G>A	ENST00000589042.1	-	107	30505	c.30281C>T	c.(30280-30282)tCt>tTt	p.S10094F	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S9777F|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S8850F|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9777	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGGTGGCAGACTGATGCTC	0.408													False	0	False	2:179567333	0	A	179567333	G	A	179567333	3	1	88	1	0	0	0	0	1	0	0	0	16819	942	33	2	74272	2	TTN	2	179567333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19867	179567333	63632040	3070	10782											
TTN	7273	broad.mit.edu	37	chr2	179568946	179568946	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaccctggtcttctgctcGaacatctgcaatggtcaatt	8	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179568946G>A	ENST00000589042.1	-	106	30375	c.30151C>T	c.(30151-30153)Cga>Tga	p.R10051*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R9734*|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R8807*|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9734	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCTGCTCGAACATCTGCA	0.423													False	0	False	2:179568946	0	A	179568946	G	A	179568946	4	1	88	1	0	0	0	0	0	1	0	0	16819	1066	37	1	74406	1	TTN	2	179568946	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1613	179568946	63630427	3071	10783											
TTN	7273	broad.mit.edu	37	chr2	179569378	179569378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatttatcactgggttccaGtttttcagttcctttgtacc	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179569378G>T	ENST00000589042.1	-	105	30045	c.29821C>A	c.(29821-29823)Ctg>Atg	p.L9941M	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L9624M|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L8697M|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9624	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGGTTCCAGTTTTTCAGTT	0.343													False	0	True	2:179569378	0	T	179569378	G	T	179569378	3	4	88	1	0	0	0	0	1	0	0	0	16819	1020	36	3	74740	3	TTN	2	179569378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432	179569378	63629995	3072	10784											
TTN	7273	broad.mit.edu	37	chr2	179575601	179575601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcactttctcccaccacaGcatccacaggggcaagacgg	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179575601G>T	ENST00000589042.1	-	98	28447	c.28223C>A	c.(28222-28224)gCt>gAt	p.A9408D	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A9091D|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A8164D|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9091	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A8164V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCACCACAGCATCCACAGG	0.517													False	0	False	2:179575601	0	T	179575601	G	T	179575601	3	4	88	1	0	0	0	0	1	0	0	0	16819	971	34	3	76366	3	TTN	2	179575601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6223	179575601	63623772	3073	10785											
TTN	7273	broad.mit.edu	37	chr2	179577471	179577471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccttgccagcttcattgCtaactatgcaagtatattct	6	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179577471C>T	ENST00000589042.1	-	94	27505	c.27281G>A	c.(27280-27282)aGc>aAc	p.S9094N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8777N|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7850N|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8777	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTCATTGCTAACTATGCA	0.393													False	0	False	2:179577471	0	T	179577471	C	T	179577471	3	4	88	1	0	0	0	0	1	0	0	0	16819	797	28	2	77324	2	TTN	2	179577471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1870	179577471	63621902	3074	10786											
TTN	7273	broad.mit.edu	37	chr2	179584922	179584922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaagccctccactatgGcccgtaactcaacagcatcc	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179584922G>A	ENST00000589042.1	-	81	23671	c.23447C>T	c.(23446-23448)gCc>gTc	p.A7816V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7499V|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6572V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7499	Ig-like 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCACTATGGCCCGTAACTC	0.428													False	0	True	2:179584922	0	A	179584922	G	A	179584922	3	1	88	1	0	0	0	0	1	0	0	0	16819	1203	42	2	81210	2	TTN	2	179584922	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7451	179584922	63614451	3075	10787											
TTN	7273	broad.mit.edu	37	chr2	179589098	179589098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaatccttaaggaagagaTtttgttgtagaagctaaatt	10	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179589098T>C	ENST00000589042.1	-	72	21228	c.21004A>G	c.(21004-21006)Atc>Gtc	p.I7002V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I6685V|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I5758V|RP11-171I2.1_ENST00000590024.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6685							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGAAGAGATTTTGTTGTAG	0.443													False	0	True	2:179589098	0	C	179589098	T	C	179589098	3	2	88	1	0	0	0	0	1	0	0	0	16819	1493	52	4	83689	4	TTN	2	179589098	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4176	179589098	63610275	3076	10788											
TTN	7273	broad.mit.edu	37	chr2	179593619	179593619	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagaatagcttacaaaccTtgtactaaaaggaaagcata	7	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179593619T>G	ENST00000589042.1	-	65	19370	c.19146A>C	c.(19144-19146)caA>caC	p.Q6382H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Splice_Site_p.Q6065H|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site_p.Q5138H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6065	Ig-like 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTACAAACCTTGTACTAAAA	0.378													False	0	False	2:179593619	0	G	179593619	T	G	179593619	5	3	88	1	0	0	0	0	0	0	1	0	16819	1623	56	4	85575	4	TTN	2	179593619	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4521	179593619	63605754	3077	10789											
TTN	7273	broad.mit.edu	37	chr2	179598068	179598068	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagctgaataaaatttgaGctgggcaacattgtttttaa	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598068G>T	ENST00000589042.1	-	54	16176	c.15952C>A	c.(15952-15954)Ctc>Atc	p.L5318I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L5001I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L4074I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5001							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAAATTTGAGCTGGGCAACA	0.448													False	0	False	2:179598068	0	T	179598068	G	T	179598068	3	4	88	1	0	0	0	0	1	0	0	0	16819	971	34	3	88813	3	TTN	2	179598068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4449	179598068	63601305	3078	10790											
TTN	7273	broad.mit.edu	37	chr2	179598373	179598373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccccaacagatgtttggCttccagcttcattttcagcc	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598373C>T	ENST00000589042.1	-	53	15967	c.15743G>A	c.(15742-15744)aGc>aAc	p.S5248N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S4931N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S4004N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4931	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATGTTTGGCTTCCAGCTTC	0.363													False	0	False	2:179598373	0	T	179598373	C	T	179598373	3	4	88	1	0	0	0	0	1	0	0	0	16819	797	28	2	89026	2	TTN	2	179598373	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	305	179598373	63601000	3079	10791											
TTN	7273	broad.mit.edu	37	chr2	179598615	179598615	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttctttacaaaggttggAggttctagttaaggaaagag	11	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598615A>G	ENST00000589042.1	-	53	15725	c.15501T>C	c.(15499-15501)ccT>ccC	p.P5167P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.P4850P|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.P3923P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4850	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAGGTTGGAGGTTCTAGTT	0.368													False	0	False	2:179598615	0	G	179598615	A	G	179598615	2	3	88	1	0	0	0	0	0	0	0	1	16819	291	11	4		4	TTN	2	179598615	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	242	179598615	63600758	3080	10792											
TTN	7273	broad.mit.edu	37	chr2	179604158	179604158	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatggggccatcctctttgAttaagccaccctcagcttcc	7	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179604158A>G	ENST00000589042.1	-	48	14026	c.13802T>C	c.(13801-13803)aTc>aCc	p.I4601T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I4430T|TTN_ENST00000591111.1_Missense_Mutation_p.I4284T|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I4363T|TTN_ENST00000460472.2_Missense_Mutation_p.I4238T|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4284	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCTCTTTGATTAAGCCACC	0.438													False	0	False	2:179604158	0	G	179604158	A	G	179604158	3	3	88	1	0	0	0	0	1	0	0	0	16819	333	12	4	90987	4	TTN	2	179604158	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5543	179604158	63595215	3081	10793											
TTN	7273	broad.mit.edu	37	chr2	179606156	179606156	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taaggaagtgaggaggacaaGgacctcccagcttttccaga	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179606156G>T	ENST00000589042.1	-	48	12028	c.11804C>A	c.(11803-11805)cCt>cAt	p.P3935H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P3764H|TTN_ENST00000591111.1_Missense_Mutation_p.P3618H|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P3697H|TTN_ENST00000460472.2_Missense_Mutation_p.P3572H|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3618							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAGGACAAGGACCTCCCAG	0.458													False	0	False	2:179606156	0	T	179606156	G	T	179606156	3	4	88	1	0	0	0	0	1	0	0	0	16819	1000	35	3	92985	3	TTN	2	179606156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1998	179606156	63593217	3082	10794											
TTN	7273	broad.mit.edu	37	chr2	179610329	179610329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttaagttaaggtgagtgCtgcaaagctctcagccattc	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179610329C>T	ENST00000360870.5	-	46	17020	c.16798G>A	c.(16798-16800)Gca>Aca	p.A5600T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9070							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGTGAGTGCTGCAAAGCTC	0.353													False	0	False	2:179610329	0	T	179610329	C	T	179610329	3	4	88	1	0	0	0	0	1	0	0	0	16819	797	28	2	93499	2	TTN	2	179610329	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4173	179610329	63589044	3083	10795											
TTN	7273	broad.mit.edu	37	chr2	179612429	179612429	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgttagggaggtctcagattCtgctgcctcagtggtatgtg	14	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179612429C>A	ENST00000360870.5	-	46	14920	c.14698G>T	c.(14698-14700)Gaa>Taa	p.E4900*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1023	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTCAGATTCTGCTGCCTCA	0.413													False	0	False	2:179612429	0	A	179612429	C	A	179612429	4	1	88	1	0	0	0	0	0	1	0	0	16819	922	32	3	95599	3	TTN	2	179612429	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2100	179612429	63586944	3084	10796											
TTN	7273	broad.mit.edu	37	chr2	179612581	179612581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagaggcatgaatgtttGtacttatttgttcacctgga	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179612581G>A	ENST00000360870.5	-	46	14768	c.14546C>T	c.(14545-14547)aCa>aTa	p.T4849I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	962							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAATGTTTGTACTTATTTG	0.403													False	0	True	2:179612581	0	A	179612581	G	A	179612581	3	1	88	1	0	0	0	0	1	0	0	0	16819	1377	48	2	95751	2	TTN	2	179612581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152	179612581	63586792	3085	10797											
TTN	7273	broad.mit.edu	37	chr2	179613691	179613691	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggattaacaattgatgttCtggtaggtcttttttctaga	10	4	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179613691C>T	ENST00000360870.5	-	46	13658	c.13436G>A	c.(13435-13437)aGa>aAa	p.R4479K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	609	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTGATGTTCTGGTAGGTCT	0.333													False	0	False	2:179613691	0	T	179613691	C	T	179613691	3	4	88	1	0	0	0	0	1	0	0	0	16819	913	32	2	96861	2	TTN	2	179613691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1110	179613691	63585682	3086	10798											
TTN	7273	broad.mit.edu	37	chr2	179615383	179615383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggttttgaattcatcaattCgtgtagaagcagagagttgt	11	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179615383C>T	ENST00000360870.5	-	46	11966	c.11744G>A	c.(11743-11745)cGa>cAa	p.R3915Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9735							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATCAATTCGTGTAGAAGC	0.338													False	0	False	2:179615383	0	T	179615383	C	T	179615383	3	4	88	1	0	0	0	0	1	0	0	0	16819	884	31	1	98553	1	TTN	2	179615383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1692	179615383	63583990	3087	10799											
TTN	7273	broad.mit.edu	37	chr2	179616305	179616305	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctgctcttttcagaaattCtaaatatttctcatcttgcc	3	10	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179616305C>A	ENST00000360870.5	-	46	11044	c.10822G>T	c.(10822-10824)Gaa>Taa	p.E3608*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3603							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGAAATTCTAAATATTTC	0.393													False	0	False	2:179616305	0	A	179616305	C	A	179616305	4	1	88	1	0	0	0	0	0	1	0	0	16819	922	32	3	99475	3	TTN	2	179616305	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	922	179616305	63583068	3088	10800											
TTN	7273	broad.mit.edu	37	chr2	179616447	179616447	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctctaagctggaagagtgAtggtgtaaatcactctcagc	10	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179616447A>G	ENST00000360870.5	-	46	10902	c.10680T>C	c.(10678-10680)caT>caC	p.H3560H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3558	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAAGAGTGATGGTGTAAAT	0.413													False	0	False	2:179616447	0	G	179616447	A	G	179616447	2	3	88	1	0	0	0	0	0	0	0	1	16819	330	12	4		4	TTN	2	179616447	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	142	179616447	63582926	3089	10801											
TTN	7273	broad.mit.edu	37	chr2	179621175	179621175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacacagaggaattgagcCgtgtcaccgcactttacagt	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179621175C>T	ENST00000589042.1	-	46	11252	c.11028G>A	c.(11026-11028)acG>acA	p.T3676T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.T3505T|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3361	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATTGAGCCGTGTCACCGC	0.453													False	0	False	2:179621175	0	T	179621175	C	T	179621175	2	4	88	1	0	0	0	0	0	0	0	1	16819	639	23	1		1	TTN	2	179621175	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4728	179621175	63578198	3090	10802											
TTN	7273	broad.mit.edu	37	chr2	179631200	179631200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtctcagagataaacattCggtggattcttctttccact	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179631200C>T	ENST00000589042.1	-	41	9835	c.9611G>A	c.(9610-9612)cGa>cAa	p.R3204Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R3158Q|TTN_ENST00000591111.1_Missense_Mutation_p.R3204Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R3158Q|TTN_ENST00000460472.2_Missense_Mutation_p.R3158Q|TTN_ENST00000360870.5_Missense_Mutation_p.R3204Q|TTN_ENST00000342992.6_Missense_Mutation_p.R3204Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2937							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATAAACATTCGGTGGATTCT	0.418													False	0	False	2:179631200	0	T	179631200	C	T	179631200	3	4	88	1	0	0	0	0	1	0	0	0	16819	884	31	1	101665	1	TTN	2	179631200	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10025	179631200	63568173	3091	10803											
TTN	7273	broad.mit.edu	37	chr2	179636087	179636087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtcagtggtaggtgtttgCcatccctcaaccattcgcct	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179636087C>T	ENST00000589042.1	-	34	8191	c.7967G>A	c.(7966-7968)gGc>gAc	p.G2656D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2610D|TTN_ENST00000591111.1_Missense_Mutation_p.G2656D|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G2610D|TTN_ENST00000460472.2_Missense_Mutation_p.G2610D|TTN_ENST00000360870.5_Missense_Mutation_p.G2656D|TTN_ENST00000342992.6_Missense_Mutation_p.G2656D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2392	Ig-like 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTGTTTGCCATCCCTCAA	0.458													False	0	False	2:179636087	0	T	179636087	C	T	179636087	3	4	88	1	0	0	0	0	1	0	0	0	16819	739	26	2	103337	2	TTN	2	179636087	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4887	179636087	63563286	3092	10804											
TTN	7273	broad.mit.edu	37	chr2	179638990	179638990	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgatgacaaagctgtattctCcctggtcctccttggttaca	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179638990C>A	ENST00000589042.1	-	30	7225	c.7001G>T	c.(7000-7002)gGa>gTa	p.G2334V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2288V|TTN_ENST00000591111.1_Missense_Mutation_p.G2334V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G2288V|TTN_ENST00000460472.2_Missense_Mutation_p.G2288V|TTN_ENST00000360870.5_Missense_Mutation_p.G2334V|TTN_ENST00000342992.6_Missense_Mutation_p.G2334V|TTN-AS1_ENST00000584485.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2051	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTATTCTCCCTGGTCCTC	0.438													False	0	True	2:179638990	0	A	179638990	C	A	179638990	3	1	88	1	0	0	0	0	1	0	0	0	16819	855	30	3	104319	3	TTN	2	179638990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2903	179638990	63560383	3093	10805											
TTN	7273	broad.mit.edu	37	chr2	179640548	179640548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagacttgagctccacagCggtaatggcttcataatagc	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179640548C>T	ENST00000589042.1	-	28	6267	c.6043G>A	c.(6043-6045)Gct>Act	p.A2015T	TTN_ENST00000342175.6_Missense_Mutation_p.A1969T|TTN_ENST00000591111.1_Missense_Mutation_p.A2015T|TTN_ENST00000359218.5_Missense_Mutation_p.A1969T|TTN_ENST00000460472.2_Missense_Mutation_p.A1969T|TTN_ENST00000360870.5_Missense_Mutation_p.A2015T|TTN_ENST00000342992.6_Missense_Mutation_p.A2015T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1777							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTCCACAGCGGTAATGGCT	0.453													False	0	False	2:179640548	0	T	179640548	C	T	179640548	3	4	88	1	0	0	0	0	1	0	0	0	16819	768	27	1	105285	1	TTN	2	179640548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1558	179640548	63558825	3094	10806											
TTN	7273	broad.mit.edu	37	chr2	179647028	179647028	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggcatccaaacaccacgctCccaccttccaccagtttctg	5	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179647028C>A	ENST00000589042.1	-	20	3515	c.3291G>T	c.(3289-3291)ggG>ggT	p.G1097G	TTN_ENST00000342175.6_Silent_p.G1051G|TTN_ENST00000591111.1_Silent_p.G1097G|TTN_ENST00000359218.5_Silent_p.G1051G|TTN_ENST00000460472.2_Silent_p.G1051G|TTN_ENST00000360870.5_Silent_p.G1097G|TTN_ENST00000342992.6_Silent_p.G1097G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1097	Ig-like 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCACGCTCCCACCTTCCA	0.498													False	0	True	2:179647028	0	A	179647028	C	A	179647028	2	1	88	1	0	0	0	0	0	0	0	1	16819	842	30	3		3	TTN	2	179647028	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6480	179647028	63552345	3095	10807											
TTN	7273	broad.mit.edu	37	chr2	179647624	179647624	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcttccgcaaatgcttcGcgaatcataagacgagcaat	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179647624G>T	ENST00000589042.1	-	18	3233	c.3009C>A	c.(3007-3009)cgC>cgA	p.R1003R	TTN_ENST00000342175.6_Silent_p.R957R|TTN_ENST00000591111.1_Silent_p.R1003R|TTN_ENST00000359218.5_Silent_p.R957R|TTN_ENST00000460472.2_Silent_p.R957R|TTN_ENST00000360870.5_Silent_p.R1003R|TTN_ENST00000342992.6_Silent_p.R1003R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1003	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAATGCTTCGCGAATCATAA	0.502													False	0	False	2:179647624	0	T	179647624	G	T	179647624	2	4	88	1	0	0	0	0	0	0	0	1	16819	1074	38	3		3	TTN	2	179647624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	596	179647624	63551749	3096	10808											
TTN	7273	broad.mit.edu	37	chr2	179654143	179654143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccatagtttctctagttcTcagtattgtttcttgttctt	6	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179654143T>C	ENST00000589042.1	-	13	2244	c.2020A>G	c.(2020-2022)Aga>Gga	p.R674G	TTN_ENST00000342175.6_Missense_Mutation_p.R628G|TTN_ENST00000591111.1_Missense_Mutation_p.R674G|TTN_ENST00000359218.5_Missense_Mutation_p.R628G|TTN_ENST00000460472.2_Missense_Mutation_p.R628G|TTN_ENST00000360870.5_Missense_Mutation_p.R674G|TTN_ENST00000342992.6_Missense_Mutation_p.R674G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	674							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTAGTTCTCAGTATTGTT	0.368													False	0	False	2:179654143	0	C	179654143	T	C	179654143	3	2	88	1	0	0	0	0	1	0	0	0	16819	1559	54	4	109368	4	TTN	2	179654143	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6519	179654143	63545230	3097	10809											
CCDC141	285025	broad.mit.edu	37	chr2	179701780	179701780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtgcttttaatctcttctCgaggaaccatttgcctctga	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179701780C>T	ENST00000420890.2	-	23	4283	c.4166G>A	c.(4165-4167)cGa>cAa	p.R1389Q	CCDC141_ENST00000295723.5_Missense_Mutation_p.R814Q|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	814							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AATCTCTTCTCGAGGAACCAT	0.498													False	0	False	2:179701780	0	T	179701780	C	T	179701780	3	4	88	1	0	0	0	0	1	0	0	0	2795	884	31	1	190	1	CCDC141	2	179701780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47637	179701780	63497593	3098	10810											
CCDC141	285025	broad.mit.edu	37	chr2	179701839	179701839	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattgaaacctgaggcccgaGaatgcatcagaggaagcatg	13	8	1	4	rs13031147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179701839G>A	ENST00000420890.2	-	23	4224	c.4107C>T	c.(4105-4107)ttC>ttT	p.F1369F	CCDC141_ENST00000295723.5_Silent_p.F794F|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	794							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGAGGCCCGAGAATGCATCAG	0.488													False	0	False	2:179701839	0	A	179701839	G	A	179701839	2	1	88	1	0	0	0	0	0	0	0	1	2795	933	33	2		2	CCDC141	2	179701839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	179701839	63497534	3099	10811											
CCDC141	285025	broad.mit.edu	37	chr2	179714776	179714776	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctaggaagaagaaattacCttcagtttttcttcgagctc	7	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179714776C>T	ENST00000420890.2	-	21	3474	c.3357G>A	c.(3355-3357)aaG>aaA	p.K1119K	CCDC141_ENST00000295723.5_Splice_Site_p.K544K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	544							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAGAAATTACCTTCAGTTTTT	0.313													False	0	False	2:179714776	0	T	179714776	C	T	179714776	5	4	88	1	0	0	0	0	0	0	1	0	2795	695	24	2	1007	2	CCDC141	2	179714776	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12937	179714776	63484597	3100	10812											
CCDC141	285025	broad.mit.edu	37	chr2	179720079	179720079	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaaaaagagaatacctcttCtatcacctcctggaaatgct	6	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179720079C>T	ENST00000420890.2	-	19	3172	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E444K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	444							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AATACCTCTTCTATCACCTCC	0.353													False	0	False	2:179720079	0	T	179720079	C	T	179720079	3	4	88	1	0	0	0	0	1	0	0	0	2795	922	32	2	1317	2	CCDC141	2	179720079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5303	179720079	63479294	3101	10813											
CCDC141	285025	broad.mit.edu	37	chr2	179730620	179730620	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccagctgctgctgtaggttCtttgcagaaacattagagca	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179730620C>A	ENST00000420890.2	-	17	2715	c.2598G>T	c.(2596-2598)aaG>aaT	p.K866N	CCDC141_ENST00000295723.5_Missense_Mutation_p.K291N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	291	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTGTAGGTTCTTTGCAGAAA	0.478													False	0	True	2:179730620	0	A	179730620	C	A	179730620	3	1	88	1	0	0	0	0	1	0	0	0	2795	912	32	3	1782	3	CCDC141	2	179730620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10541	179730620	63468753	3102	10814											
CCDC141	285025	broad.mit.edu	37	chr2	179736940	179736940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttaagctgccatgccagccGaaggaggctaagttcttccc	10	12	1	0	rs146458136		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179736940G>A	ENST00000420890.2	-	13	2116	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	CCDC141_ENST00000295723.5_Missense_Mutation_p.R92W	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	92							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATGCCAGCCGAAGGAGGCTA	0.468													False	0	False	2:179736940	0	A	179736940	G	A	179736940	3	1	88	1	0	0	0	0	1	0	0	0	2795	1057	37	1	2397	1	CCDC141	2	179736940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6320	179736940	63462433	3103	10815											
ZNF385B	151126	broad.mit.edu	37	chr2	180307983	180307983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttgcagacgttagtaCggagcaaagaggatggaggc	18	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180307983C>T	ENST00000410066.1	-	10	2013	c.1410G>A	c.(1408-1410)ccG>ccA	p.P470P	ZNF385B_ENST00000409692.1_Silent_p.P368P|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.P394P|ZNF385B_ENST00000336917.5_Silent_p.P368P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	470						nucleus	nucleic acid binding|zinc ion binding	p.P470P(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GACGTTAGTACGGAGCAAAGA	0.552													False	0	False	2:180307983	0	T	180307983	C	T	180307983	2	4	88	1	0	0	0	0	0	0	0	1	17960	523	19	1		1	ZNF385B	2	180307983	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	571043	180307983	62891390	3104	10816											
ZNF385B	151126	broad.mit.edu	37	chr2	180308082	180308082	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctggaagagcgaggcagaGggccggggtgggagtgacag	22	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180308082G>T	ENST00000410066.1	-	10	1914	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	ZNF385B_ENST00000409692.1_Silent_p.P335P|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.P361P|ZNF385B_ENST00000336917.5_Silent_p.P335P	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	437						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCGAGGCAGAGGGCCGGGGTG	0.642													False	0	True	2:180308082	0	T	180308082	G	T	180308082	2	4	88	1	0	0	0	0	0	0	0	1	17960	987	35	3		3	ZNF385B	2	180308082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99	180308082	62891291	3105	10817											
ZNF385B	151126	broad.mit.edu	37	chr2	180310425	180310425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taattggaccagccccattaCgagcttcaaccatggtcttg	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180310425C>T	ENST00000410066.1	-	8	1550	c.947G>A	c.(946-948)cGt>cAt	p.R316H	ZNF385B_ENST00000409692.1_Missense_Mutation_p.R214H|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.R240H|ZNF385B_ENST00000336917.5_Missense_Mutation_p.R214H	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	316						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AGCCCCATTACGAGCTTCAAC	0.378													False	0	False	2:180310425	0	T	180310425	C	T	180310425	3	4	88	1	0	0	0	0	1	0	0	0	17960	536	19	1	480	1	ZNF385B	2	180310425	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2343	180310425	62888948	3106	10818											
CWC22	57703	broad.mit.edu	37	chr2	180817221	180817221	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctttaatcttgcattaagTttaggaagacccatgtattc	6	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180817221T>C	ENST00000410053.3	-	17	2093	c.1794A>G	c.(1792-1794)aaA>aaG	p.K598K	CWC22_ENST00000295749.6_Silent_p.K598K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	598						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTGCATTAAGTTTAGGAAGAC	0.353													False	0	True	2:180817221	0	C	180817221	T	C	180817221	2	2	88	1	0	0	0	0	0	0	0	1	4093	1722	60	4		4	CWC22	2	180817221	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	506796	180817221	62382152	3107	10819											
CWC22	57703	broad.mit.edu	37	chr2	180837941	180837941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattttggttaataagatgCgccacaaattttgaagcagt	8	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180837941C>T	ENST00000410053.3	-	8	1082	c.783G>A	c.(781-783)gcG>gcA	p.A261A	CWC22_ENST00000295749.6_Silent_p.A261A	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	261	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding	p.A261A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TAATAAGATGCGCCACAAATT	0.358													False	0	False	2:180837941	0	T	180837941	C	T	180837941	2	4	88	1	0	0	0	0	0	0	0	1	4093	755	27	1		1	CWC22	2	180837941	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20720	180837941	62361432	3108	10820											
CWC22	57703	broad.mit.edu	37	chr2	180842944	180842944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taactatattttcttgaagaAgctcttgaataataatactt	4	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180842944A>G	ENST00000410053.3	-	6	853	c.554T>C	c.(553-555)cTt>cCt	p.L185P	CWC22_ENST00000295749.6_Missense_Mutation_p.L185P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	185	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTCTTGAAGAAGCTCTTGAAT	0.308													False	0	False	2:180842944	0	G	180842944	A	G	180842944	3	3	88	1	0	0	0	0	1	0	0	0	4093	72	3	4	2232	4	CWC22	2	180842944	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5003	180842944	62356429	3109	10821											
UBE2E3	10477	broad.mit.edu	37	chr2	181846774	181846774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agataacttcaccaagatgtCcagtgataggcaaaggtccg	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:181846774C>T	ENST00000410062.4	+	2	398	c.5C>T	c.(4-6)tCc>tTc	p.S2F	UBE2E3_ENST00000602632.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000392415.2_Missense_Mutation_p.S2F|UBE2E3_ENST00000602959.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602475.1_Missense_Mutation_p.S2F|UBE2E3_ENST00000602710.1_Missense_Mutation_p.S2F	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	2					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						ACCAAGATGTCCAGTGATAGG	0.478													False	0	False	2:181846774	0	T	181846774	C	T	181846774	3	4	88	1	0	0	0	0	1	0	0	0	16938	855	30	2	7	2	UBE2E3	2	181846774	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1003830	181846774	61352599	3110	10822											
CERKL	0	broad.mit.edu	37	chr2	182413296	182413296	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgcacatcatcagagctgTtaaatggtaaaaatgatatt	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182413296T>G	ENST00000410087.3	-	8	1209	c.1109A>C	c.(1108-1110)aAc>aCc	p.N370T	CERKL_ENST00000339098.5_Missense_Mutation_p.N396T|CERKL_ENST00000374969.2_Missense_Mutation_p.N257T|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.N352T|CERKL_ENST00000374970.2_Missense_Mutation_p.N301T	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	396					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCAGAGCTGTTAAATGGTAA	0.303													False	0	False	2:182413296	0	G	182413296	T	G	182413296	3	3	88	1	0	0	0	0	1	0	0	0	3291	1725	60	4	513	4	CERKL	2	182413296	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566522	182413296	60786077	3111	10823											
NEUROD1	4760	broad.mit.edu	37	chr2	182542881	182542881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacgtggaagacatgggagCtgtccatggtaccgtaaggc	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182542881C>T	ENST00000295108.3	-	2	1164	c.707G>A	c.(706-708)aGc>aAc	p.S236N	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	236					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GACATGGGAGCTGTCCATGGT	0.627											OREG0005604	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	False	0	False	2:182542881	0	T	182542881	C	T	182542881	3	4	88	1	0	0	0	0	1	0	0	0	10416	797	28	2	367	2	NEUROD1	2	182542881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129585	182542881	60656492	3112	10824											
NEUROD1	4760	broad.mit.edu	37	chr2	182543157	182543157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgtagttcttggccaagCgcagagtctcgattttggac	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182543157C>T	ENST00000295108.3	-	2	888	c.431G>A	c.(430-432)cGc>cAc	p.R144H	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	144	Helix-loop-helix motif.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.R144L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTTGGCCAAGCGCAGAGTCTC	0.567													False	0	False	2:182543157	0	T	182543157	C	T	182543157	3	4	88	1	0	0	0	0	1	0	0	0	10416	768	27	1	643	1	NEUROD1	2	182543157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	276	182543157	60656216	3113	10825											
SSFA2	6744	broad.mit.edu	37	chr2	182781011	182781011	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctacttgtagtgccttcGcttcccctttcgggtgtcct	11	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182781011G>T	ENST00000431877.2	+	11	2823	c.2644G>T	c.(2644-2646)Gct>Tct	p.A882S	SSFA2_ENST00000409001.1_Missense_Mutation_p.A882S|SSFA2_ENST00000320370.7_Missense_Mutation_p.A882S|SSFA2_ENST00000409136.1_Missense_Mutation_p.A391S|SSFA2_ENST00000428267.2_Missense_Mutation_p.A729S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	882						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAGTGCCTTCGCTTCCCCTTT	0.517													False	0	False	2:182781011	0	T	182781011	G	T	182781011	3	4	88	1	0	0	0	0	1	0	0	0	15265	1087	38	3	2686	3	SSFA2	2	182781011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237854	182781011	60418362	3114	10826											
SSFA2	6744	broad.mit.edu	37	chr2	182781142	182781142	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatattagaaactcactgcaGaatctttcacaggtatgaga	8	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182781142G>T	ENST00000431877.2	+	11	2954	c.2775G>T	c.(2773-2775)caG>caT	p.Q925H	SSFA2_ENST00000409001.1_Missense_Mutation_p.Q925H|SSFA2_ENST00000320370.7_Missense_Mutation_p.Q925H|SSFA2_ENST00000409136.1_Missense_Mutation_p.Q434H|SSFA2_ENST00000428267.2_Missense_Mutation_p.Q772H	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	925						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACTCACTGCAGAATCTTTCAC	0.393													False	0	False	2:182781142	0	T	182781142	G	T	182781142	3	4	88	1	0	0	0	0	1	0	0	0	15265	933	33	3	2817	3	SSFA2	2	182781142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131	182781142	60418231	3115	10827											
SSFA2	6744	broad.mit.edu	37	chr2	182783536	182783536	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaatttgtttagaacaCaaatgatggatttagaattg	9	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182783536C>T	ENST00000431877.2	+	13	3099	c.2920C>T	c.(2920-2922)Caa>Taa	p.Q974*	SSFA2_ENST00000409001.1_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.Q974*|SSFA2_ENST00000409136.1_Nonsense_Mutation_p.Q483*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.Q821*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	974						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GTTTAGAACACAAATGATGGA	0.363													False	0	True	2:182783536	0	T	182783536	C	T	182783536	4	4	88	1	0	0	0	0	0	1	0	0	15265	479	17	2	2970	2	SSFA2	2	182783536	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2394	182783536	60415837	3116	10828											
PDE1A	0	broad.mit.edu	37	chr2	183387083	183387083	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgttttccaattcttcaatCtctgtggcactagaccccat	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183387083C>T	ENST00000435564.1	-	1	221	c.21G>A	c.(19-21)gaG>gaA	p.E7E	PDE1A_ENST00000410103.1_Silent_p.E7E|PDE1A_ENST00000331935.6_Silent_p.E7E|PDE1A_ENST00000456212.1_Silent_p.E7E|PDE1A_ENST00000358139.2_Silent_p.E7E	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	7					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ATTCTTCAATCTCTGTGGCAC	0.408													False	0	False	2:183387083	0	T	183387083	C	T	183387083	2	4	88	1	0	0	0	0	0	0	0	1	11701	912	32	2		2	PDE1A	2	183387083	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	603547	183387083	59812290	3117	10829											
FRZB	2487	broad.mit.edu	37	chr2	183699691	183699691	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaagcttcatatcccagCgctgtgaaatttaaaataga	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183699691C>T	ENST00000295113.4	-	6	1472	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	288	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CATATCCCAGCGCTGTGAAAT	0.428													False	0	False	2:183699691	0	T	183699691	C	T	183699691	5	4	88	1	0	0	0	0	0	0	1	0	6107	782	27	1	118	1	FRZB	2	183699691	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	312608	183699691	59499682	3118	10830											
NCKAP1	10787	broad.mit.edu	37	chr2	183791578	183791578	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aataaacagattctctatttCttgttgtagttttatctgtc	5	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183791578C>A	ENST00000361354.4	-	30	3608	c.3236G>T	c.(3235-3237)aGa>aTa	p.R1079I	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R1085I	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCTCTATTTCTTGTTGTAGT	0.313													False	0	True	2:183791578	0	A	183791578	C	A	183791578	3	1	88	1	0	0	0	0	1	0	0	0	10289	913	32	3	158	3	NCKAP1	2	183791578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91887	183791578	59407795	3119	10831											
NCKAP1	10787	broad.mit.edu	37	chr2	183793529	183793529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttctatagcagggctgtActgagacatcacattactgg	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183793529A>G	ENST00000361354.4	-	28	3424	c.3052T>C	c.(3052-3054)Tac>Cac	p.Y1018H	NCKAP1_ENST00000478449.1_5'UTR|NCKAP1_ENST00000360982.2_Missense_Mutation_p.Y1024H	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCAGGGCTGTACTGAGACATC	0.363													False	0	False	2:183793529	0	G	183793529	A	G	183793529	3	3	88	1	0	0	0	0	1	0	0	0	10289	391	14	4	350	4	NCKAP1	2	183793529	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1951	183793529	59405844	3120	10832											
NCKAP1	10787	broad.mit.edu	37	chr2	183800055	183800055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgtgccaatgatcggaagGataaaattacaccaattatt	7	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183800055G>A	ENST00000361354.4	-	25	3116	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	NCKAP1_ENST00000478449.1_5'UTR|NCKAP1_ENST00000360982.2_Missense_Mutation_p.S921F	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGATCGGAAGGATAAAATTAC	0.333													False	0	False	2:183800055	0	A	183800055	G	A	183800055	3	1	88	1	0	0	0	0	1	0	0	0	10289	1174	41	2	670	2	NCKAP1	2	183800055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6526	183800055	59399318	3121	10833											
NCKAP1	10787	broad.mit.edu	37	chr2	183850942	183850942	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattctcttatgtcattaaTacgtttattatagctaggtg	7	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183850942T>C	ENST00000361354.4	-	10	1333	c.961A>G	c.(961-963)Att>Gtt	p.I321V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.I327V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATGTCATTAATACGTTTATTA	0.313													False	0	False	2:183850942	0	C	183850942	T	C	183850942	3	2	88	1	0	0	0	0	1	0	0	0	10289	1406	49	4	2513	4	NCKAP1	2	183850942	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50887	183850942	59348431	3122	10834											
NCKAP1	10787	broad.mit.edu	37	chr2	183867735	183867735	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttggcaaacgtcaatagtAttcagcaattcacaaacatg	6	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183867735A>G	ENST00000361354.4	-	4	708	c.336T>C	c.(334-336)aaT>aaC	p.N112N	NCKAP1_ENST00000360982.2_Silent_p.N118N	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CGTCAATAGTATTCAGCAATT	0.308													False	0	False	2:183867735	0	G	183867735	A	G	183867735	2	3	88	1	0	0	0	0	0	0	0	1	10289	446	16	4		4	NCKAP1	2	183867735	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16793	183867735	59331638	3123	10835											
ZNF804A	91752	broad.mit.edu	37	chr2	185802746	185802746	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcagaacaaacaaaccaaTtaagaaacaaactgtctttc	3	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:185802746T>G	ENST00000302277.6	+	4	3217	c.2623T>G	c.(2623-2625)Tta>Gta	p.L875V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	875						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AACAAACCAATTAAGAAACAA	0.363													False	0	False	2:185802746	0	G	185802746	T	G	185802746	3	3	88	1	0	0	0	0	1	0	0	0	18252	1490	52	4	2637	4	ZNF804A	2	185802746	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1935011	185802746	57396627	3124	10836											
ZNF804A	91752	broad.mit.edu	37	chr2	185803264	185803264	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgacaaattcaaaaatgtAccatgtgaggtctaccagca	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:185803264A>G	ENST00000302277.6	+	4	3735	c.3141A>G	c.(3139-3141)gtA>gtG	p.V1047V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1047						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCAAAAATGTACCATGTGAGG	0.458													False	0	False	2:185803264	0	G	185803264	A	G	185803264	2	3	88	1	0	0	0	0	0	0	0	1	18252	378	14	4		4	ZNF804A	2	185803264	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	518	185803264	57396109	3125	10837											
FSIP2	401024	broad.mit.edu	37	chr2	186671080	186671080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttcaaaatgtcattgaaAatatttttgaagatgtttta	6	2	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671080A>G	ENST00000343098.5	+	17	17314	c.17314A>G	c.(17314-17316)Aat>Gat	p.N5772D	FSIP2_ENST00000424728.1_Missense_Mutation_p.N5683D	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGTCATTGAAAATATTTTTGA	0.378													False	0	True	2:186671080	0	G	186671080	A	G	186671080	3	3	88	1	0	0	0	0	1	0	0	0	6117	14	1	4	17380	4	FSIP2	2	186671080	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	867816	186671080	56528293	3126	10838											
FSIP2	401024	broad.mit.edu	37	chr2	186671708	186671708	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgcagataaaatgccacCtatgcataaaatgatgagaa	7	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671708C>A	ENST00000343098.5	+	17	17942	c.17942C>A	c.(17941-17943)cCt>cAt	p.P5981H	FSIP2_ENST00000424728.1_Missense_Mutation_p.P5892H	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAATGCCACCTATGCATAAA	0.343													False	0	False	2:186671708	0	A	186671708	C	A	186671708	3	1	88	1	0	0	0	0	1	0	0	0	6117	681	24	3	18008	3	FSIP2	2	186671708	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	628	186671708	56527665	3127	10839											
FSIP2	401024	broad.mit.edu	37	chr2	186671858	186671858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagaatataaacagtaatgGagaaaatttagcaagaagac	9	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671858G>A	ENST00000343098.5	+	17	18092	c.18092G>A	c.(18091-18093)gGa>gAa	p.G6031E	FSIP2_ENST00000424728.1_Missense_Mutation_p.G5942E	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AACAGTAATGGAGAAAATTTA	0.318													False	0	False	2:186671858	0	A	186671858	G	A	186671858	3	1	88	1	0	0	0	0	1	0	0	0	6117	1174	41	2	18158	2	FSIP2	2	186671858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150	186671858	56527515	3128	10840											
FSIP2	401024	broad.mit.edu	37	chr2	186672574	186672574	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtcttataacataatagaaGaaattgctgtgaaattttta	6	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186672574G>T	ENST00000343098.5	+	17	18808	c.18808G>T	c.(18808-18810)Gaa>Taa	p.E6270*	FSIP2_ENST00000424728.1_Nonsense_Mutation_p.E6181*	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CATAATAGAAGAAATTGCTGT	0.303													False	0	True	2:186672574	0	T	186672574	G	T	186672574	4	4	88	1	0	0	0	0	0	1	0	0	6117	943	33	3	18874	3	FSIP2	2	186672574	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	716	186672574	56526799	3129	10841											
FSIP2	401024	broad.mit.edu	37	chr2	186673515	186673515	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attgttcaaaaggcccaagaAcatgcttttaatgtgattcc	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186673515A>G	ENST00000343098.5	+	17	19749	c.19749A>G	c.(19747-19749)gaA>gaG	p.E6583E	FSIP2_ENST00000424728.1_Silent_p.E6494E	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGGCCCAAGAACATGCTTTTA	0.323													False	0	False	2:186673515	0	G	186673515	A	G	186673515	2	3	88	1	0	0	0	0	0	0	0	1	6117	40	2	4		4	FSIP2	2	186673515	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	941	186673515	56525858	3130	10842											
FSIP2	401024	broad.mit.edu	37	chr2	186678279	186678279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttaatttcaggccgttgCtagaaattcatttcagaata	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186678279C>T	ENST00000343098.5	+	18	20102	c.20102C>T	c.(20101-20103)gCt>gTt	p.A6701V	FSIP2_ENST00000424728.1_Missense_Mutation_p.A6612V	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAGGCCGTTGCTAGAAATTCA	0.284													False	0	False	2:186678279	0	T	186678279	C	T	186678279	3	4	88	1	0	0	0	0	1	0	0	0	6117	797	28	2	20172	2	FSIP2	2	186678279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4764	186678279	56521094	3131	10843											
ZC3H15	55854	broad.mit.edu	37	chr2	187370212	187370212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaatgttaccaaaatcaCtctagaatcttttcttgcct	3	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187370212C>T	ENST00000337859.6	+	7	979	c.752C>T	c.(751-753)aCt>aTt	p.T251I	ZC3H15_ENST00000544130.1_Missense_Mutation_p.T46I	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	251	Required for interaction with DRG1 (By similarity).					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			ACCAAAATCACTCTAGAATCT	0.368													False	0	False	2:187370212	0	T	187370212	C	T	187370212	3	4	88	1	0	0	0	0	1	0	0	0	17650	565	20	2	778	2	ZC3H15	2	187370212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	691933	187370212	55829161	3132	10844											
ITGAV	3685	broad.mit.edu	37	chr2	187455135	187455135	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcttctctcgggactcCtgctacctctgtgccgcgcc	9	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187455135C>A	ENST00000261023.3	+	1	344	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	ITGAV_ENST00000374907.3_Missense_Mutation_p.L24M	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	24					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CTCGGGACTCCTGCTACCTCT	0.672													False	0	False	2:187455135	0	A	187455135	C	A	187455135	3	1	88	1	0	0	0	0	1	0	0	0	7938	680	24	3	72	3	ITGAV	2	187455135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84923	187455135	55744238	3133	10845											
ITGAV	3685	broad.mit.edu	37	chr2	187503034	187503034	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagttccaagagcagcaaGgactttgggaatggtaggac	15	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187503034G>T	ENST00000261023.3	+	9	1107	c.833G>T	c.(832-834)aGg>aTg	p.R278M	ITGAV_ENST00000433736.2_Missense_Mutation_p.R232M|ITGAV_ENST00000374907.3_Missense_Mutation_p.R242M	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	278					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		AGAGCAGCAAGGACTTTGGGA	0.333													False	0	False	2:187503034	0	T	187503034	G	T	187503034	3	4	88	1	0	0	0	0	1	0	0	0	7938	1000	35	3	918	3	ITGAV	2	187503034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47899	187503034	55696339	3134	10846											
ITGAV	3685	broad.mit.edu	37	chr2	187503186	187503186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttatacaattttactggCgagcaggtatgcttccaaaa	7	9	0	0	rs140473956		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187503186C>T	ENST00000261023.3	+	10	1171	c.897C>T	c.(895-897)ggC>ggT	p.G299G	ITGAV_ENST00000433736.2_Silent_p.G253G|ITGAV_ENST00000374907.3_Silent_p.G263G	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	299					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ATTTTACTGGCGAGCAGGTAT	0.333													False	0	False	2:187503186	0	T	187503186	C	T	187503186	2	4	88	1	0	0	0	0	0	0	0	1	7938	755	27	1		1	ITGAV	2	187503186	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152	187503186	55696187	3135	10847											
ITGAV	3685	broad.mit.edu	37	chr2	187531458	187531458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcttcgtttcagtgtgCaccagcagtcagagatggat	12	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187531458C>T	ENST00000261023.3	+	22	2468	c.2194C>T	c.(2194-2196)Cac>Tac	p.H732Y	ITGAV_ENST00000433736.2_Missense_Mutation_p.H686Y|ITGAV_ENST00000374907.3_Missense_Mutation_p.H696Y|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	732					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TTTCAGTGTGCACCAGCAGTC	0.318													False	0	False	2:187531458	0	T	187531458	C	T	187531458	3	4	88	1	0	0	0	0	1	0	0	0	7938	710	25	2	2331	2	ITGAV	2	187531458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28272	187531458	55667915	3136	10848											
ZSWIM2	151112	broad.mit.edu	37	chr2	187694554	187694554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcagcttactattcttaGtaatcagttggagaggcagt	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187694554G>A	ENST00000295131.2	-	8	1034	c.995C>T	c.(994-996)aCt>aTt	p.T332I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	332					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ACTATTCTTAGTAATCAGTTG	0.388													False	0	False	2:187694554	0	A	187694554	G	A	187694554	3	1	88	1	0	0	0	0	1	0	0	0	18323	1029	36	2	914	2	ZSWIM2	2	187694554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163096	187694554	55504819	3137	10849											
TFPI	7035	broad.mit.edu	37	chr2	188332545	188332545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcatttcccccacatccaCtgtacttaaatgggcggcat	6	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:188332545C>T	ENST00000233156.3	-	7	1037	c.743G>A	c.(742-744)aGt>aAt	p.S248N	TFPI_ENST00000392365.1_Missense_Mutation_p.S248N|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	248	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	CCCACATCCACTGTACTTAAA	0.408													False	0	False	2:188332545	0	T	188332545	C	T	188332545	3	4	88	1	0	0	0	0	1	0	0	0	15890	565	20	2	179	2	TFPI	2	188332545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	637991	188332545	54866828	3138	10850											
TFPI	7035	broad.mit.edu	37	chr2	188361643	188361643	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcactcttccagacttTcaaatcgattctgatttcct	4	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:188361643T>G	ENST00000233156.3	-	3	578	c.284A>C	c.(283-285)gAa>gCa	p.E95A	TFPI_ENST00000409676.1_Missense_Mutation_p.E95A|TFPI_ENST00000392365.1_Missense_Mutation_p.E95A|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.E95A	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	95	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TTCCAGACTTTCAAATCGATT	0.363													False	0	True	2:188361643	0	G	188361643	T	G	188361643	3	3	88	1	0	0	0	0	1	0	0	0	15890	1783	62	4	786	4	TFPI	2	188361643	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29098	188361643	54837730	3139	10851											
DIRC1	116093	broad.mit.edu	37	chr2	189599453	189599453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgttattggtttataaaaGcatgtgtctgagatgatgga	11	2	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189599453G>A	ENST00000308100.4	-	2	465	c.195C>T	c.(193-195)tgC>tgT	p.C65C	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	65										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			GTTTATAAAAGCATGTGTCTG	0.408													False	0	True	2:189599453	0	A	189599453	G	A	189599453	2	1	88	1	0	0	0	0	0	0	0	1	4563	963	34	2		2	DIRC1	2	189599453	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1237810	189599453	53599920	3140	10852											
COL3A1	1281	broad.mit.edu	37	chr2	189862066	189862066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttcttgtttttagggtcCtcctggaaagaatggtgaaa	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189862066C>T	ENST00000304636.3	+	26	1990	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L	COL3A1_ENST00000317840.5_Missense_Mutation_p.P607L	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	607	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTTAGGGTCCTCCTGGAAAG	0.433													False	0	False	2:189862066	0	T	189862066	C	T	189862066	3	4	88	1	0	0	0	0	1	0	0	0	3711	681	24	2	1922	2	COL3A1	2	189862066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262613	189862066	53337307	3141	10853											
COL3A1	1281	broad.mit.edu	37	chr2	189872614	189872614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcctttctttccagggcCctgctggtcagcagggtgca	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189872614C>T	ENST00000304636.3	+	46	3537	c.3367C>T	c.(3367-3369)Cct>Tct	p.P1123S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1123	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTCCAGGGCCCTGCTGGTCA	0.483													False	0	True	2:189872614	0	T	189872614	C	T	189872614	3	4	88	1	0	0	0	0	1	0	0	0	3711	623	22	2	3549	2	COL3A1	2	189872614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10548	189872614	53326759	3142	10854											
COL5A2	1290	broad.mit.edu	37	chr2	189901341	189901341	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagtaaacatattaaattaCctgagaccctctgttcatat	4	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189901341C>T	ENST00000374866.3	-	52	4388		c.e52+1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TATTAAATTACCTGAGACCCT	0.328													False	0	False	2:189901341	0	T	189901341	C	T	189901341	5	4	88	1	0	0	0	0	0	0	1	0	3720	521	18	2	397	2	COL5A2	2	189901341	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28727	189901341	53298032	3143	10855											
COL5A2	1290	broad.mit.edu	37	chr2	189914108	189914108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacaggaccattggagcCtgggggccccacaggtccag	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189914108C>T	ENST00000374866.3	-	44	3386	c.3112G>A	c.(3112-3114)Ggc>Agc	p.G1038S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1038					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCATTGGAGCCTGGGGGCCCC	0.453													False	0	False	2:189914108	0	T	189914108	C	T	189914108	3	4	88	1	0	0	0	0	1	0	0	0	3720	681	24	2	1431	2	COL5A2	2	189914108	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12767	189914108	53285265	3144	10856											
COL5A2	1290	broad.mit.edu	37	chr2	189917698	189917698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccagcatctcccttctgtCctggctctccaggttcacct	6	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189917698C>T	ENST00000374866.3	-	39	2874	c.2600G>A	c.(2599-2601)gGa>gAa	p.G867E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	867					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCCTTCTGTCCTGGCTCTCC	0.433													False	0	False	2:189917698	0	T	189917698	C	T	189917698	3	4	88	1	0	0	0	0	1	0	0	0	3720	855	30	2	1963	2	COL5A2	2	189917698	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3590	189917698	53281675	3145	10857											
COL5A2	1290	broad.mit.edu	37	chr2	189922062	189922062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttactctgtcacccttggggCcaggagttcctgcaattcct	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189922062C>A	ENST00000374866.3	-	34	2595	c.2321G>T	c.(2320-2322)gGc>gTc	p.G774V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	774					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCCTTGGGGCCAGGAGTTCC	0.443													False	0	True	2:189922062	0	A	189922062	C	A	189922062	3	1	88	1	0	0	0	0	1	0	0	0	3720	739	26	3	2262	3	COL5A2	2	189922062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4364	189922062	53277311	3146	10858											
COL5A2	1290	broad.mit.edu	37	chr2	189929383	189929383	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgttctccttgagcacccTgtaccgaggcaaagcagatg	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189929383T>G	ENST00000374866.3	-	25	1892		c.e25-2			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGAGCACCCTGTACCGAGGC	0.478													False	0	True	2:189929383	0	G	189929383	T	G	189929383	5	3	88	1	0	0	0	0	0	0	1	0	3720	1594	55	4	3003	4	COL5A2	2	189929383	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7321	189929383	53269990	3147	10859											
COL5A2	1290	broad.mit.edu	37	chr2	189975161	189975161	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attctgagtgcaggctatttCttcaccatatccttctaaaa	5	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189975161C>A	ENST00000374866.3	-	2	386	c.112G>T	c.(112-114)Gaa>Taa	p.E38*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	38					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAGGCTATTTCTTCACCATAT	0.383													False	0	True	2:189975161	0	A	189975161	C	A	189975161	4	1	88	1	0	0	0	0	0	1	0	0	3720	922	32	3	4599	3	COL5A2	2	189975161	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45778	189975161	53224212	3148	10860											
SLC40A1	30061	broad.mit.edu	37	chr2	190426914	190426914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttaaatcaaaggaccaaAgacctataataaaatatttt	4	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190426914A>G	ENST00000261024.2	-	8	1832	c.1406T>C	c.(1405-1407)cTt>cCt	p.L469P		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	469					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AAAGGACCAAAGACCtataat	0.284													False	0	True	2:190426914	0	G	190426914	A	G	190426914	3	3	88	1	0	0	0	0	1	0	0	0	14708	72	3	4	313	4	SLC40A1	2	190426914	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	451753	190426914	52772459	3149	10861											
ASNSD1	54529	broad.mit.edu	37	chr2	190531602	190531602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcctttaaatatgatgttGccacaagctgcattggagac	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190531602G>A	ENST00000260952.4	+	4	1157	c.744G>A	c.(742-744)ttG>ttA	p.L248L	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	248					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			ATATGATGTTGCCACAAGCTG	0.383													False	0	False	2:190531602	0	A	190531602	G	A	190531602	2	1	88	1	0	0	0	0	0	0	0	1	1053	1310	46	2		2	ASNSD1	2	190531602	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104688	190531602	52667771	3150	10862											
ANKAR	150709	broad.mit.edu	37	chr2	190593005	190593005	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaaataggcatttcaaataGatgttaaggaacaaggagct	9	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190593005G>A	ENST00000520309.1	+	14	2978	c.2890G>A	c.(2890-2892)Gat>Aat	p.D964N	ANKAR_ENST00000313581.4_Missense_Mutation_p.D964N|ANKAR_ENST00000431575.2_Missense_Mutation_p.D893N|ANKAR_ENST00000281412.6_Missense_Mutation_p.D739N|ANKAR_ENST00000438402.2_Missense_Mutation_p.D964N	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	964						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATTTCAAATAGATGTTAAGGA	0.284													False	0	False	2:190593005	0	A	190593005	G	A	190593005	3	1	88	1	0	0	0	0	1	0	0	0	623	942	33	2	2940	2	ANKAR	2	190593005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61403	190593005	52606368	3151	10863											
PMS1	0	broad.mit.edu	37	chr2	190728551	190728551	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggagtcacaaatgtcaCtaaaagatggcagaaaaaag	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190728551C>T	ENST00000441310.2	+	10	2172	c.1939C>T	c.(1939-1941)Cta>Tta	p.L647L	PMS1_ENST00000409823.3_Silent_p.L608L|PMS1_ENST00000418224.3_Silent_p.L471L|PMS1_ENST00000432292.3_Silent_p.L471L|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	647					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACAAATGTCACTAAAAGATGG	0.358			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					False	0	False	2:190728551	0	T	190728551	C	T	190728551	2	4	88	1	0	0	0	0	0	0	0	1	12211	564	20	2		2	PMS1	2	190728551	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135546	190728551	52470822	3152	10864											
PMS1	0	broad.mit.edu	37	chr2	190742119	190742119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagagtgtgttcatggtcGcccattttttcatcatttaa	7	7	3	1	rs147566508	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190742119G>A	ENST00000441310.2	+	13	2989	c.2756G>A	c.(2755-2757)cGc>cAc	p.R919H	PMS1_ENST00000409823.3_Missense_Mutation_p.R880H|PMS1_ENST00000418224.3_Missense_Mutation_p.R743H|PMS1_ENST00000432292.3_Missense_Mutation_p.R743H|PMS1_ENST00000447232.2_Missense_Mutation_p.R757H	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	919					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GTTCATGGTCGCCCATTTTTT	0.328			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					False	0	True	2:190742119	0	A	190742119	G	A	190742119	3	1	88	1	0	0	0	0	1	0	0	0	12211	1087	38	1	2802	1	PMS1	2	190742119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13568	190742119	52457254	3153	10865											
MSTN	2660	broad.mit.edu	37	chr2	190924940	190924940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctctgccaaataccagtgcCtgggttcatgtcaagtttca	9	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190924940C>A	ENST00000260950.4	-	2	727	c.595G>T	c.(595-597)Ggc>Tgc	p.G199C	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	199					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATACCAGTGCCTGGGTTCATG	0.408													False	0	False	2:190924940	0	A	190924940	C	A	190924940	3	1	88	1	0	0	0	0	1	0	0	0	9960	681	24	3	540	3	MSTN	2	190924940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182821	190924940	52274433	3154	10866											
C2orf88	84281	broad.mit.edu	37	chr2	191064772	191064772	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgatcttggaatatgcAcaccgcctgtctcaggatat	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191064772A>G	ENST00000340623.4	+	2	597	c.186A>G	c.(184-186)gcA>gcG	p.A62A	C2orf88_ENST00000409870.1_Silent_p.A62A|C2orf88_ENST00000396974.2_Silent_p.A62A|C2orf88_ENST00000443551.2_Silent_p.A62A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	62										kidney(1)|large_intestine(1)|lung(1)	3						TGGAATATGCACACCGCCTGT	0.468													False	0	False	2:191064772	0	G	191064772	A	G	191064772	2	3	88	1	0	0	0	0	0	0	0	1	2218	146	6	4		4	C2orf88	2	191064772	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	139832	191064772	52134601	3155	10867											
MFSD6	54842	broad.mit.edu	37	chr2	191301736	191301736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagatcgctatgggttgcaGcgcatgtggggctccctggg	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191301736G>A	ENST00000392328.1	+	3	1305	c.981G>A	c.(979-981)caG>caA	p.Q327Q	MFSD6_ENST00000281416.7_Silent_p.Q327Q	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	327					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ATGGGTTGCAGCGCATGTGGG	0.532													False	0	False	2:191301736	0	A	191301736	G	A	191301736	2	1	88	1	0	0	0	0	0	0	0	1	9602	962	34	2		2	MFSD6	2	191301736	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236964	191301736	51897637	3156	10868											
GLS	2744	broad.mit.edu	37	chr2	191769834	191769834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaactgaatatgtgcatcGatatgttggaaaagagccga	12	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191769834G>A	ENST00000320717.3	+	6	1178	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	GLS_ENST00000338435.4_Missense_Mutation_p.R307Q	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	307					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TATGTGCATCGATATGTTGGA	0.353													False	0	False	2:191769834	0	A	191769834	G	A	191769834	3	1	88	1	0	0	0	0	1	0	0	0	6508	1058	37	1	942	1	GLS	2	191769834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	468098	191769834	51429539	3157	10869											
GLS	2744	broad.mit.edu	37	chr2	191797507	191797507	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctttaaaagagacagtatgGaaaaaagtgtcacctgagtc	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191797507G>A	ENST00000338435.4	+	15	1967	c.1716G>A	c.(1714-1716)tgG>tgA	p.W572*	GLS_ENST00000409428.1_Intron|GLS_ENST00000409215.1_Nonsense_Mutation_p.W77*|GLS_ENST00000471443.1_3'UTR|GLS_ENST00000409626.1_Nonsense_Mutation_p.W143*|GLS_ENST00000320717.3_Intron	NM_001256310.1	NP_001243239.1	O94925	GLSK_HUMAN	glutaminase	0					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGACAGTATGGAAAAAAGTGT	0.363													False	0	True	2:191797507	0	A	191797507	G	A	191797507	4	1	88	1	0	0	0	0	0	1	0	0	6508	1189	41	2		2	GLS	2	191797507	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27673	191797507	51401866	3158	10870											
STAT1	6772	broad.mit.edu	37	chr2	191840588	191840588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatatccagttcctttaggGccatcaagttccattggctc	7	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191840588G>A	ENST00000361099.3	-	23	2472	c.2085C>T	c.(2083-2085)ggC>ggT	p.G695G	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Silent_p.G695G|STAT1_ENST00000392323.2_Silent_p.G697G|STAT1_ENST00000409465.1_Silent_p.G695G	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	695					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TTCCTTTAGGGCCATCAAGTT	0.423													False	0	True	2:191840588	0	A	191840588	G	A	191840588	2	1	88	1	0	0	0	0	0	0	0	1	15346	1190	42	2		2	STAT1	2	191840588	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43081	191840588	51358785	3159	10871											
STAT1	6772	broad.mit.edu	37	chr2	191850364	191850364	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcattcgttctggtgccaGcatttttctgttctttcaat	6	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191850364G>T	ENST00000361099.3	-	15	1631	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.A415D|STAT1_ENST00000392323.2_Missense_Mutation_p.A417D|STAT1_ENST00000409465.1_Missense_Mutation_p.A415D	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	415					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCTGGTGCCAGCATTTTTCTG	0.413													False	0	False	2:191850364	0	T	191850364	G	T	191850364	3	4	88	1	0	0	0	0	1	0	0	0	15346	971	34	3	1056	3	STAT1	2	191850364	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9776	191850364	51349009	3160	10872											
STAT4	6775	broad.mit.edu	37	chr2	191905836	191905836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagatctgtgtttcaaaCgttatggaatgaagttcttc	10	6	3	2	rs145312304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191905836C>T	ENST00000392320.2	-	15	1604	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	STAT4_ENST00000358470.4_Silent_p.T430T|STAT4_ENST00000470708.1_5'UTR	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	430					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GTGTTTCAAACGTTATGGAAT	0.383													False	0	True	2:191905836	0	T	191905836	C	T	191905836	2	4	88	1	0	0	0	0	0	0	0	1	15349	523	19	1		1	STAT4	2	191905836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55472	191905836	51293537	3161	10873											
MYO1B	4430	broad.mit.edu	37	chr2	192225372	192225372	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttagatcttttagagaaatCtcgggttgttaaacagccaa	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192225372C>A	ENST00000392318.3	+	8	825	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	MYO1B_ENST00000304164.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000339514.4_Missense_Mutation_p.S193Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.S193Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	193	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTAGAGAAATCTCGGGTTGTT	0.388													False	0	False	2:192225372	0	A	192225372	C	A	192225372	3	1	88	1	0	0	0	0	1	0	0	0	10136	913	32	3	604	3	MYO1B	2	192225372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319536	192225372	50974001	3162	10874											
MYO1B	4430	broad.mit.edu	37	chr2	192234334	192234334	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttttcatggttggtaaatCgaatcaatgaaagcattaag	9	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192234334C>T	ENST00000392318.3	+	12	1346	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	MYO1B_ENST00000304164.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000339514.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R367*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	367	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.R367*(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTTGGTAAATCGAATCAATGA	0.318													False	0	False	2:192234334	0	T	192234334	C	T	192234334	4	4	88	1	0	0	0	0	0	1	0	0	10136	876	31	1	1141	1	MYO1B	2	192234334	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8962	192234334	50965039	3163	10875											
MYO1B	4430	broad.mit.edu	37	chr2	192267420	192267420	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcatgcagttgctgtcatTtgggcttactggcttggact	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192267420T>G	ENST00000392318.3	+	24	2779	c.2532T>G	c.(2530-2532)atT>atG	p.I844M	MYO1B_ENST00000304164.4_Missense_Mutation_p.I844M|MYO1B_ENST00000439065.2_Missense_Mutation_p.I89M|MYO1B_ENST00000339514.4_Intron|MYO1B_ENST00000392316.1_Missense_Mutation_p.I815M	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	844	IQ 6.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTGCTGTCATTTGGGCTTACT	0.448													False	0	True	2:192267420	0	G	192267420	T	G	192267420	3	3	88	1	0	0	0	0	1	0	0	0	10136	1829	64	4	2622	4	MYO1B	2	192267420	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33086	192267420	50931953	3164	10876											
MYO1B	4430	broad.mit.edu	37	chr2	192288586	192288586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggtacagttcagacaggAcaaagtatgtgtgaagttta	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192288586A>G	ENST00000392318.3	+	31	3558	c.3311A>G	c.(3310-3312)gAc>gGc	p.D1104G	MYO1B_ENST00000304164.4_Missense_Mutation_p.D1104G|MYO1B_ENST00000439065.2_Missense_Mutation_p.D349G|MYO1B_ENST00000339514.4_Missense_Mutation_p.D1046G|MYO1B_ENST00000392316.1_Missense_Mutation_p.D1075G	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1104						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTCAGACAGGACAAAGTATGT	0.358													False	0	False	2:192288586	0	G	192288586	A	G	192288586	3	3	88	1	0	0	0	0	1	0	0	0	10136	275	10	4	3429	4	MYO1B	2	192288586	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21166	192288586	50910787	3165	10877											
SDPR	8436	broad.mit.edu	37	chr2	192711348	192711348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggtggaggcctggtactTggagagcttggtgaggtcat	18	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192711348T>C	ENST00000304141.4	-	1	633	c.304A>G	c.(304-306)Aag>Gag	p.K102E	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	102						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCCTGGTACTTGGAGAGCTTG	0.597													False	0	False	2:192711348	0	C	192711348	T	C	192711348	3	2	88	1	0	0	0	0	1	0	0	0	14051	1821	63	4	981	4	SDPR	2	192711348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	422762	192711348	50488025	3166	10878											
SDPR	8436	broad.mit.edu	37	chr2	192711440	192711440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctggttctcctgcacaGcgtctagcatgttcaccagc	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192711440G>T	ENST00000304141.4	-	1	541	c.212C>A	c.(211-213)gCt>gAt	p.A71D	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	71						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTCCTGCACAGCGTCTAGCAT	0.567													False	0	False	2:192711440	0	T	192711440	G	T	192711440	3	4	88	1	0	0	0	0	1	0	0	0	14051	971	34	3	1073	3	SDPR	2	192711440	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92	192711440	50487933	3167	10879											
DNAH7	56171	broad.mit.edu	37	chr2	196737174	196737175	+	In_Frame_Ins	INS	-	-	CAACAGAAACCACAGAAG													tgtgtggtcaaatctagaaaINSttcatctggaaatttataac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196737174_196737175insCAACAGAAACCACAGAAG	ENST00000312428.6	-	40	6532_6533	c.6432_6433insCTTCTGTGGTTTCTGTTG	c.(6430-6435)gaattt>gaaCTTCTGTGGTTTCTGTTGttt	p.2144_2145EF>ELLWFLLF		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2144	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAATCTAGAAATTCATCTGGaa	0.302													False	0	True	2:196737174	0	CAACAGAAACCACAGAAG	196737175	-	CAACAGAAACCACAGAAG	196737174	7	5	88	1	0	1	1	0	0	0	0	0	4636	101	4	0	5745	0	DNAH7	2	196737174	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	4025734	196737174	46462199	3168	10880	160	2									
DNAH7	56171	broad.mit.edu	37	chr2	196737175	196737176	+	In_Frame_Ins	INS	-	-	GATTAAACG													gtgtggtcaaatctagaaatINStcatctggaaatttataact							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196737175_196737176insGATTAAACG	ENST00000312428.6	-	40	6531_6532	c.6431_6432insCGTTTAATC	c.(6430-6432)gaa>gaCGTTTAATCa	p.2144_2144E>DV*S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2144	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATCTAGAAATTCATCTGGaaa	0.302													False	0	False	2:196737175	0	GATTAAACG	196737176	-	GATTAAACG	196737175	7	5	88	1	0	1	1	0	0	0	0	0	4636	1490	52	0	5746	0	DNAH7	2	196737175	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1	196737175	46462198	3169	10881	160	2									
DNAH7	56171	broad.mit.edu	37	chr2	196741347	196741347	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacaatattctgagtttgaGctgctgtagtttgtgctgag	12	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196741347G>T	ENST00000312428.6	-	37	6138	c.6038C>A	c.(6037-6039)gCt>gAt	p.A2013D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2013	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGAGTTTGAGCTGCTGTAGT	0.323													False	0	False	2:196741347	0	T	196741347	G	T	196741347	3	4	88	1	0	0	0	0	1	0	0	0	4636	971	34	3	6152	3	DNAH7	2	196741347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4172	196741347	46458026	3170	10882											
DNAH7	56171	broad.mit.edu	37	chr2	196746544	196746544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtaaacacttttcccagttCctgttggtcctacaaatatt	5	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196746544C>T	ENST00000312428.6	-	36	6036	c.5936G>A	c.(5935-5937)gGa>gAa	p.G1979E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1979	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCCCAGTTCCTGTTGGTCC	0.368													False	0	False	2:196746544	0	T	196746544	C	T	196746544	3	4	88	1	0	0	0	0	1	0	0	0	4636	855	30	2	6258	2	DNAH7	2	196746544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5197	196746544	46452829	3171	10883											
DNAH7	56171	broad.mit.edu	37	chr2	196746672	196746672	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatctttaggaattggaggAgcttctttcaatttctttat	7	6	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196746672A>G	ENST00000312428.6	-	36	5908	c.5808T>C	c.(5806-5808)gcT>gcC	p.A1936A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1936					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAATTGGAGGAGCTTCTTTCA	0.333													False	0	False	2:196746672	0	G	196746672	A	G	196746672	2	3	88	1	0	0	0	0	0	0	0	1	4636	291	11	4		4	DNAH7	2	196746672	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	128	196746672	46452701	3172	10884											
DNAH7	56171	broad.mit.edu	37	chr2	196788367	196788367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcaaagtcagagtcatcGctaatatttttttttacaag	5	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196788367G>A	ENST00000312428.6	-	23	3877	c.3777C>T	c.(3775-3777)agC>agT	p.S1259S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1259	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGAGTCATCGCTAATATTTT	0.403													False	0	False	2:196788367	0	A	196788367	G	A	196788367	2	1	88	1	0	0	0	0	0	0	0	1	4636	1078	38	1		1	DNAH7	2	196788367	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41695	196788367	46411006	3173	10885											
HECW2	57520	broad.mit.edu	37	chr2	197143304	197143304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttgccgatgaaccagcGcacttgtgggtctactgctc	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197143304G>A	ENST00000260983.3	-	15	3265	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V	HECW2_ENST00000409111.1_Missense_Mutation_p.A672V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATGAACCAGCGCACTTGTGGG	0.537													False	0	False	2:197143304	0	A	197143304	G	A	197143304	3	1	88	1	0	0	0	0	1	0	0	0	7090	1087	38	1	1695	1	HECW2	2	197143304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	354937	197143304	46056069	3174	10886											
HECW2	57520	broad.mit.edu	37	chr2	197157417	197157417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtggtgggtgtccctccGgactttggtgatcatgtgct	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197157417G>A	ENST00000260983.3	-	14	3054	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	HECW2_ENST00000409111.1_Missense_Mutation_p.R602W	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGTCCCTCCGGACTTTGGTG	0.493													False	0	False	2:197157417	0	A	197157417	G	A	197157417	3	1	88	1	0	0	0	0	1	0	0	0	7090	1115	39	1	1910	1	HECW2	2	197157417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14113	197157417	46041956	3175	10887											
HECW2	57520	broad.mit.edu	37	chr2	197183767	197183767	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctggcaggatcactgGgttctgtttcagaggacacc	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197183767G>T	ENST00000260983.3	-	9	2029	c.1847C>A	c.(1846-1848)cCc>cAc	p.P616H	HECW2_ENST00000409111.1_Missense_Mutation_p.P260H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGATCACTGGGTTCTGTTTC	0.587													False	0	True	2:197183767	0	T	197183767	G	T	197183767	3	4	88	1	0	0	0	0	1	0	0	0	7090	1232	43	3	2955	3	HECW2	2	197183767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26350	197183767	46015606	3176	10888											
HECW2	57520	broad.mit.edu	37	chr2	197184558	197184558	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcatgtcctcgtcatcGgaagggctacctaagtctcc	10	14	2	0	rs61752163		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197184558G>A	ENST00000260983.3	-	9	1238	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCGTCATCGGAAGGGCTAC	0.493													False	0	False	2:197184558	0	A	197184558	G	A	197184558	2	1	88	1	0	0	0	0	0	0	0	1	7090	1103	39	1		1	HECW2	2	197184558	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	791	197184558	46014815	3177	10889											
HECW2	57520	broad.mit.edu	37	chr2	197297957	197297957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgtgtactcgtacatgCtggcagttaagctggagcgg	14	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197297957C>T	ENST00000260983.3	-	2	373	c.191G>A	c.(190-192)aGc>aAc	p.S64N		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCGTACATGCTGGCAGTTAA	0.547													False	0	False	2:197297957	0	T	197297957	C	T	197297957	3	4	88	1	0	0	0	0	1	0	0	0	7090	797	28	2	4639	2	HECW2	2	197297957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113399	197297957	45901416	3178	10890											
HECW2	57520	broad.mit.edu	37	chr2	197298094	197298094	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggctcaatgtgtaccgcatCtggggatttcgacgcctcac	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197298094C>A	ENST00000260983.3	-	2	236	c.54G>T	c.(52-54)caG>caT	p.Q18H		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGTACCGCATCTGGGGATTTC	0.592													False	0	False	2:197298094	0	A	197298094	C	A	197298094	3	1	88	1	0	0	0	0	1	0	0	0	7090	912	32	3	4776	3	HECW2	2	197298094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	197298094	45901279	3179	10891											
CCDC150	284992	broad.mit.edu	37	chr2	197596779	197596779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagctaatctggaagaagCtcatcgctggtttaagcaca	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197596779C>A	ENST00000389175.4	+	27	3227	c.3092C>A	c.(3091-3093)gCt>gAt	p.A1031D	CCDC150_ENST00000409270.1_Missense_Mutation_p.A518D|CCDC150_ENST00000272831.7_Missense_Mutation_p.A678D	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1031										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGAAGAAGCTCATCGCTGG	0.393													False	0	False	2:197596779	0	A	197596779	C	A	197596779	3	1	88	1	0	0	0	0	1	0	0	0	2805	797	28	3	3198	3	CCDC150	2	197596779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298685	197596779	45602594	3180	10892											
GTF3C3	9330	broad.mit.edu	37	chr2	197631301	197631301	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaatacctctaccacaagTggagggagctccagggcctt	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197631301T>C	ENST00000263956.3	-	17	2615	c.2526A>G	c.(2524-2526)ccA>ccG	p.P842P		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	842						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTACCACAAGTGGAGGGAGCT	0.448													False	0	True	2:197631301	0	C	197631301	T	C	197631301	2	2	88	1	0	0	0	0	0	0	0	1	6921	1683	59	4		4	GTF3C3	2	197631301	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34522	197631301	45568072	3181	10893											
GTF3C3	9330	broad.mit.edu	37	chr2	197654005	197654005	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaatacgcctataaccAtccatggccattttatgatc	4	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197654005A>G	ENST00000263956.3	-	6	905	c.816T>C	c.(814-816)gaT>gaC	p.D272D	GTF3C3_ENST00000409364.3_Silent_p.D272D|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	272						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCCTATAACCATCCATGGCCA	0.398													False	0	True	2:197654005	0	G	197654005	A	G	197654005	2	3	88	1	0	0	0	0	0	0	0	1	6921	214	8	4		4	GTF3C3	2	197654005	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22704	197654005	45545368	3182	10894											
C2orf66	401027	broad.mit.edu	37	chr2	197672174	197672174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagaaactttcagcctTtgagataattgtgaaaggag	10	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197672174T>C	ENST00000342506.2	-	2	1235	c.347A>G	c.(346-348)aAa>aGa	p.K116R		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	116						extracellular region				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						CTTTCAGCCTTTGAGATAATT	0.378													False	0	True	2:197672174	0	C	197672174	T	C	197672174	3	2	88	1	0	0	0	0	1	0	0	0	2201	1841	64	4	10	4	C2orf66	2	197672174	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18169	197672174	45527199	3183	10895											
PGAP1	80055	broad.mit.edu	37	chr2	197767389	197767389	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacttggtaatcccggaatcCtccagctacagaaagtgtgg	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197767389C>A	ENST00000354764.4	-	5	841	c.727G>T	c.(727-729)Gga>Tga	p.G243*	PGAP1_ENST00000409475.1_Nonsense_Mutation_p.G243*|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Nonsense_Mutation_p.G201*	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCCCGGAATCCTCCAGCTACA	0.363													False	0	False	2:197767389	0	A	197767389	C	A	197767389	4	1	88	1	0	0	0	0	0	1	0	0	11846	690	24	3	2133	3	PGAP1	2	197767389	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95215	197767389	45431984	3184	10896											
HSPD1	3329	broad.mit.edu	37	chr2	198361910	198361910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgctaatcttctcgaaGccttccttggctatagagcg	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198361910G>A	ENST00000388968.3	-	3	648	c.381C>T	c.(379-381)ggC>ggT	p.G127G	HSPD1_ENST00000544407.1_Silent_p.G127G|HSPD1_ENST00000345042.2_Silent_p.G127G	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	127					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TCTTCTCGAAGCCTTCCTTGG	0.453													False	0	True	2:198361910	0	A	198361910	G	A	198361910	2	1	88	1	0	0	0	0	0	0	0	1	7478	958	34	2		2	HSPD1	2	198361910	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	594521	198361910	44837463	3185	10897											
HSPD1	3329	broad.mit.edu	37	chr2	198363459	198363459	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctacaccttgaagcattaaGgctcgggcatctgcaccaaa	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198363459G>T	ENST00000388968.3	-	2	381	c.114C>A	c.(112-114)gcC>gcA	p.A38A	HSPD1_ENST00000544407.1_Silent_p.A38A|HSPD1_ENST00000345042.2_Silent_p.A38A	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	38					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	p.A38A(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GAAGCATTAAGGCTCGGGCAT	0.458													False	0	False	2:198363459	0	T	198363459	G	T	198363459	2	4	88	1	0	0	0	0	0	0	0	1	7478	987	35	3		3	HSPD1	2	198363459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1549	198363459	44835914	3186	10898											
HSPD1	3329	broad.mit.edu	37	chr2	198363569	198363569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagactgtgggtaaccgaaGcatttctggggatggaagca	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198363569G>A	ENST00000388968.3	-	2	271	c.4C>T	c.(4-6)Ctt>Ttt	p.L2F	HSPD1_ENST00000544407.1_Missense_Mutation_p.L2F|HSPD1_ENST00000345042.2_Missense_Mutation_p.L2F	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	2					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GGTAACCGAAGCATTTCTGGG	0.512													False	0	False	2:198363569	0	A	198363569	G	A	198363569	3	1	88	1	0	0	0	0	1	0	0	0	7478	971	34	2	1761	2	HSPD1	2	198363569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110	198363569	44835804	3187	10899											
RFTN2	130132	broad.mit.edu	37	chr2	198460765	198460765	+	Missense_Mutation	SNP	C	C	T													aactggcctctgaaggaataCgatctgctttgtagccaaat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198460765C>T	ENST00000295049.4	-	8	1719	c.1183G>A	c.(1183-1185)Gta>Ata	p.V395I		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TGAAGGAATACGATCTGCTTT	0.323													False	0	False	2:198460765	0	T	198460765	C	T	198460765	3	4	88	1	0	0	0	0	1	0	0	0	13338	536	19	1	330	1	RFTN2	2	198460765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97196	198460765	44738608	3188	10900	161	2									
RFTN2	130132	broad.mit.edu	37	chr2	198460774	198460774	+	Missense_Mutation	SNP	T	T	C													ctgaaggaatacgatctgctTtgtagccaaattcccttcac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198460774T>C	ENST00000295049.4	-	8	1710	c.1174A>G	c.(1174-1176)Aag>Gag	p.K392E		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ACGATCTGCTTTGTAGCCAAA	0.328													False	0	True	2:198460774	0	C	198460774	T	C	198460774	3	2	88	1	0	0	0	0	1	0	0	0	13338	1850	64	4	339	4	RFTN2	2	198460774	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9	198460774	44738599	3189	10901	161	2									
RFTN2	130132	broad.mit.edu	37	chr2	198511301	198511301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataacaggatgaatagcccCgacaatatatcctttaagat	6	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198511301C>T	ENST00000295049.4	-	2	765	c.229G>A	c.(229-231)Ggg>Agg	p.G77R		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TGAATAGCCCCGACAATATAT	0.378													False	0	True	2:198511301	0	T	198511301	C	T	198511301	3	4	88	1	0	0	0	0	1	0	0	0	13338	652	23	1	1308	1	RFTN2	2	198511301	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50527	198511301	44688072	3190	10902											
RFTN2	130132	broad.mit.edu	37	chr2	198540075	198540075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatccagcaatacatattcGtaagcaaattctgtctttgt	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198540075G>A	ENST00000295049.4	-	1	644	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ATACATATTCGTAAGCAAATT	0.368													False	0	False	2:198540075	0	A	198540075	G	A	198540075	2	1	88	1	0	0	0	0	0	0	0	1	13338	1140	40	1		1	RFTN2	2	198540075	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28774	198540075	44659298	3191	10903											
MARS2	92935	broad.mit.edu	37	chr2	198570573	198570573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcaccgggtggctgtgcaGcacttctggggggtgcttaa	17	10	1	0	rs138238210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198570573G>A	ENST00000282276.6	+	1	487	c.444G>A	c.(442-444)caG>caA	p.Q148Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	148					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGGCTGTGCAGCACTTCTGGG	0.607													False	0	False	2:198570573	0	A	198570573	G	A	198570573	2	1	88	1	0	0	0	0	0	0	0	1	9384	962	34	2		2	MARS2	2	198570573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30498	198570573	44628800	3192	10904											
PLCL1	5334	broad.mit.edu	37	chr2	198949647	198949647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacaacccatgtttcctttcGaagtgtcatagaggtaataa	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198949647G>A	ENST00000428675.1	+	2	1804	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	PLCL1_ENST00000437704.2_Missense_Mutation_p.R371Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	469	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R371Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTTTCCTTTCGAAGTGTCATA	0.403													False	0	False	2:198949647	0	A	198949647	G	A	198949647	3	1	88	1	0	0	0	0	1	0	0	0	12108	1058	37	1	1412	1	PLCL1	2	198949647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	379074	198949647	44249726	3193	10905											
PLCL1	5334	broad.mit.edu	37	chr2	198950755	198950755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtgacatcatggagcaCgtaaccctttttgtccacat	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198950755C>T	ENST00000428675.1	+	2	2912	c.2514C>T	c.(2512-2514)caC>caT	p.H838H	PLCL1_ENST00000437704.2_Silent_p.H740H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	838					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.H740H(2)|p.H838H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCATGGAGCACGTAACCCTTT	0.458													False	0	False	2:198950755	0	T	198950755	C	T	198950755	2	4	88	1	0	0	0	0	0	0	0	1	12108	535	19	1		1	PLCL1	2	198950755	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1108	198950755	44248618	3194	10906											
PLCL1	5334	broad.mit.edu	37	chr2	198950910	198950910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgacatctttaaaatagCggttcatccattacgagaag	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198950910C>T	ENST00000428675.1	+	2	3067	c.2669C>T	c.(2668-2670)gCg>gTg	p.A890V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A792V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	890					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTTAAAATAGCGGTTCATCCA	0.423													False	0	False	2:198950910	0	T	198950910	C	T	198950910	3	4	88	1	0	0	0	0	1	0	0	0	12108	768	27	1	2675	1	PLCL1	2	198950910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	198950910	44248463	3195	10907											
PLCL1	5334	broad.mit.edu	37	chr2	198968628	198968628	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaaactcaacaaagcaactGagagctttgcttggaacatt	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198968628G>A	ENST00000428675.1	+	5	3471	c.3073G>A	c.(3073-3075)Gag>Aag	p.E1025K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E927K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1025					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAAAGCAACTGAGAGCTTTGC	0.408													False	0	False	2:198968628	0	A	198968628	G	A	198968628	3	1	88	1	0	0	0	0	1	0	0	0	12108	1291	45	2	3091	2	PLCL1	2	198968628	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17718	198968628	44230745	3196	10908											
PLCL1	5334	broad.mit.edu	37	chr2	199011668	199011668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggagaaggaaagtagtgaGgagaatgggaagctgtgact	18	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:199011668G>A	ENST00000428675.1	+	6	3668	c.3270G>A	c.(3268-3270)gaG>gaA	p.E1090E	PLCL1_ENST00000437704.2_Silent_p.E992E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1090					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAAGTAGTGAGGAGAATGGGA	0.483													False	0	False	2:199011668	0	A	199011668	G	A	199011668	2	1	88	1	0	0	0	0	0	0	0	1	12108	991	35	2		2	PLCL1	2	199011668	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43040	199011668	44187705	3197	10909											
SATB2	23314	broad.mit.edu	37	chr2	200137033	200137033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggagccttcctcgctgtcGttctcctctgactcggtcag	10	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137033G>A	ENST00000443023.1	-	10	3391	c.1926C>T	c.(1924-1926)aaC>aaT	p.N642N	SATB2_ENST00000260926.5_Silent_p.N701N|SATB2_ENST00000457245.1_Silent_p.N701N|SATB2_ENST00000428695.1_Silent_p.N583N|SATB2_ENST00000417098.1_Silent_p.N701N			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	701						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTCGCTGTCGTTCTCCTCTG	0.552													False	0	False	2:200137033	0	A	200137033	G	A	200137033	2	1	88	1	0	0	0	0	0	0	0	1	13934	1136	40	1		1	SATB2	2	200137033	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1125365	200137033	43062340	3198	10910											
SATB2	23314	broad.mit.edu	37	chr2	200137137	200137137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgcttcacgtggtaccGctggttctggaagaacttga	14	8	2	2	rs139677384		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137137G>A	ENST00000443023.1	-	10	3287	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	SATB2_ENST00000260926.5_Missense_Mutation_p.R667W|SATB2_ENST00000457245.1_Missense_Mutation_p.R667W|SATB2_ENST00000428695.1_Missense_Mutation_p.R549W|SATB2_ENST00000417098.1_Missense_Mutation_p.R667W			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	667						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACGTGGTACCGCTGGTTCTGG	0.562													False	0	False	2:200137137	0	A	200137137	G	A	200137137	3	1	88	1	0	0	0	0	1	0	0	0	13934	1086	38	1	206	1	SATB2	2	200137137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104	200137137	43062236	3199	10911											
SATB2	23314	broad.mit.edu	37	chr2	200137187	200137187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggggagatccagctgaGccgaaagagtgtggatggct	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137187G>A	ENST00000443023.1	-	10	3237	c.1772C>T	c.(1771-1773)gCt>gTt	p.A591V	SATB2_ENST00000260926.5_Missense_Mutation_p.A650V|SATB2_ENST00000457245.1_Missense_Mutation_p.A650V|SATB2_ENST00000428695.1_Missense_Mutation_p.A532V|SATB2_ENST00000417098.1_Missense_Mutation_p.A650V			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	650						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATCCAGCTGAGCCGAAAGAGT	0.542													False	0	False	2:200137187	0	A	200137187	G	A	200137187	3	1	88	1	0	0	0	0	1	0	0	0	13934	971	34	2	256	2	SATB2	2	200137187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	200137187	43062186	3200	10912											
SATB2	23314	broad.mit.edu	37	chr2	200173513	200173513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggggaagctggaccacGtgttgcatgcgttcgctgtg	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200173513G>A	ENST00000443023.1	-	9	2998	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	SATB2_ENST00000260926.5_Silent_p.H570H|SATB2_ENST00000457245.1_Silent_p.H570H|SATB2_ENST00000428695.1_Silent_p.H452H|SATB2_ENST00000417098.1_Silent_p.H570H			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	570						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.H570H(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCTGGACCACGTGTTGCATGC	0.607													False	0	False	2:200173513	0	A	200173513	G	A	200173513	2	1	88	1	0	0	0	0	0	0	0	1	13934	1136	40	1		1	SATB2	2	200173513	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36326	200173513	43025860	3201	10913											
C2orf69	205327	broad.mit.edu	37	chr2	200790131	200790131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagtccttctcatactaCgaatggttgccagggagaaa	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200790131C>T	ENST00000319974.5	+	2	863	c.680C>T	c.(679-681)aCg>aTg	p.T227M	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	227						extracellular region				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						TCTCATACTACGAATGGTTGC	0.368													False	0	False	2:200790131	0	T	200790131	C	T	200790131	3	4	88	1	0	0	0	0	1	0	0	0	2204	536	19	1	686	1	C2orf69	2	200790131	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	616618	200790131	42409242	3202	10914											
C2orf47	79568	broad.mit.edu	37	chr2	200824039	200824039	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgtaaatttgatctgTtggaagaacttgtggccaaa	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200824039T>C	ENST00000295079.2	+	3	821	c.499T>C	c.(499-501)Ttg>Ctg	p.L167L	C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000392290.1_Silent_p.L167L	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	167						mitochondrion				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						ATTTGATCTGTTGGAAGAACT	0.308													False	0	False	2:200824039	0	C	200824039	T	C	200824039	2	2	88	1	0	0	0	0	0	0	0	1	2185	1722	60	4		4	C2orf47	2	200824039	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33908	200824039	42375334	3203	10915											
KCTD18	130535	broad.mit.edu	37	chr2	201355148	201355148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctgagctgcctttctgCggctaccactttgaaaccgg	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201355148C>T	ENST00000359878.3	-	7	1466	c.956G>A	c.(955-957)cGc>cAc	p.R319H	KCTD18_ENST00000409157.1_Missense_Mutation_p.R319H	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	319						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCCTTTCTGCGGCTACCACT	0.632													False	0	False	2:201355148	0	T	201355148	C	T	201355148	3	4	88	1	0	0	0	0	1	0	0	0	8155	768	27	1	328	1	KCTD18	2	201355148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	531109	201355148	41844225	3204	10916											
KCTD18	130535	broad.mit.edu	37	chr2	201355283	201355283	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaaaaatctaactggcTtaggaccagtcttatagttc	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201355283T>G	ENST00000359878.3	-	7	1331	c.821A>C	c.(820-822)aAg>aCg	p.K274T	KCTD18_ENST00000409157.1_Missense_Mutation_p.K274T	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	274						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTAACTGGCTTAGGACCAGT	0.463													False	0	False	2:201355283	0	G	201355283	T	G	201355283	3	3	88	1	0	0	0	0	1	0	0	0	8155	1609	56	4	463	4	KCTD18	2	201355283	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135	201355283	41844090	3205	10917											
AOX1	316	broad.mit.edu	37	chr2	201469468	201469468	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagggtgtttggcagtgagaGaatgatgtggttttcccccg	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201469468G>T	ENST00000374700.2	+	9	960	c.719G>T	c.(718-720)aGa>aTa	p.R240I		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	240	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGCAGTGAGAGAATGATGTGG	0.468													False	0	True	2:201469468	0	T	201469468	G	T	201469468	3	4	88	1	0	0	0	0	1	0	0	0	731	942	33	3	753	3	AOX1	2	201469468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114185	201469468	41729905	3206	10918											
AOX1	316	broad.mit.edu	37	chr2	201477379	201477379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcgacaggagaatgcGctagcgatagtcaattcagg	13	10	2	1	rs146899961	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201477379G>A	ENST00000374700.2	+	14	1552	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	437					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGGAGAATGCGCTAGCGATAG	0.468													False	0	False	2:201477379	0	A	201477379	G	A	201477379	2	1	88	1	0	0	0	0	0	0	0	1	731	1074	38	1		1	AOX1	2	201477379	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7911	201477379	41721994	3207	10919											
CLK1	1195	broad.mit.edu	37	chr2	201722536	201722536	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgaagtcgtaagtactaAgtcccaatagttcaaaaaca	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722536A>C	ENST00000434813.2	-	7	1197	c.863T>G	c.(862-864)cTt>cGt	p.L288R	CLK1_ENST00000409769.2_Missense_Mutation_p.L69R|CLK1_ENST00000321356.4_Missense_Mutation_p.L246R	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	246	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTAAGTACTAAGTCCCAATAG	0.363													False	0	False	2:201722536	0	C	201722536	A	C	201722536	3	2	88	1	0	0	0	0	1	0	0	0	3559	72	3	4	745	4	CLK1	2	201722536	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	245157	201722536	41476837	3208	10920											
CLK1	1195	broad.mit.edu	37	chr2	201722711	201722711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacaaagtactgttggggTctgttgtattcagatgttcc	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722711T>C	ENST00000434813.2	-	6	1110	c.776A>G	c.(775-777)gAc>gGc	p.D259G	CLK1_ENST00000409769.2_Missense_Mutation_p.D40G|CLK1_ENST00000321356.4_Missense_Mutation_p.D217G	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	217	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACTGTTGGGGTCTGTTGTATT	0.358													False	0	True	2:201722711	0	C	201722711	T	C	201722711	3	2	88	1	0	0	0	0	1	0	0	0	3559	1667	58	4	836	4	CLK1	2	201722711	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	175	201722711	41476662	3209	10921											
CLK1	1195	broad.mit.edu	37	chr2	201722796	201722796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttttaactatttttactgCtacatgtctacctcccctgt	3	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722796C>A	ENST00000434813.2	-	6	1025	c.691G>T	c.(691-693)Gca>Tca	p.A231S	CLK1_ENST00000409769.2_Missense_Mutation_p.A12S|CLK1_ENST00000321356.4_Missense_Mutation_p.A189S	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	189	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTTTTACTGCTACATGTCTA	0.378													False	0	False	2:201722796	0	A	201722796	C	A	201722796	3	1	88	1	0	0	0	0	1	0	0	0	3559	797	28	3	921	3	CLK1	2	201722796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85	201722796	41476577	3210	10922											
FAM126B	285172	broad.mit.edu	37	chr2	201887576	201887576	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattatttgaatcttgaataActttatagagggctggtaca	8	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201887576A>C	ENST00000418596.3	-	4	318	c.131T>G	c.(130-132)gTt>gGt	p.V44G	FAM126B_ENST00000485144.1_5'UTR	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCTTGAATAACTTTATAGAG	0.328													False	0	False	2:201887576	0	C	201887576	A	C	201887576	3	2	88	1	0	0	0	0	1	0	0	0	5466	43	2	4	1497	4	FAM126B	2	201887576	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	164780	201887576	41311797	3211	10923											
CFLAR	8837	broad.mit.edu	37	chr2	201994608	201994608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgtctgctgaagtcatccAtcaggttgaagaagcacttg	11	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994608A>G	ENST00000309955.3	+	2	535	c.20A>G	c.(19-21)cAt>cGt	p.H7R	CFLAR_ENST00000440180.1_Missense_Mutation_p.H7R|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000341222.6_Missense_Mutation_p.H7R|CFLAR_ENST00000457277.1_Missense_Mutation_p.H7R|CFLAR_ENST00000355558.4_Missense_Mutation_p.H7R|CFLAR_ENST00000340870.5_Missense_Mutation_p.H7R|CFLAR_ENST00000341582.6_Missense_Mutation_p.H7R|CFLAR_ENST00000395148.2_Missense_Mutation_p.H7R|CFLAR_ENST00000423241.2_Missense_Mutation_p.H7R|CFLAR_ENST00000342795.5_Missense_Mutation_p.H7R	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator		DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GAAGTCATCCATCAGGTTGAA	0.493													False	0	True	2:201994608	0	G	201994608	A	G	201994608	3	3	88	1	0	0	0	0	1	0	0	0	3315	217	8	4	22	4	CFLAR	2	201994608	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	107032	201994608	41204765	3212	10924											
CFLAR	8837	broad.mit.edu	37	chr2	201994684	201994684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggatgttgctatagatgtGgttccacctaatgtcaggga	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994684G>A	ENST00000309955.3	+	2	611	c.96G>A	c.(94-96)gtG>gtA	p.V32V	CFLAR_ENST00000440180.1_Silent_p.V32V|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000341222.6_Silent_p.V32V|CFLAR_ENST00000457277.1_Silent_p.V32V|CFLAR_ENST00000355558.4_Silent_p.V32V|CFLAR_ENST00000340870.5_Silent_p.V32V|CFLAR_ENST00000341582.6_Silent_p.V32V|CFLAR_ENST00000395148.2_Silent_p.V32V|CFLAR_ENST00000423241.2_Silent_p.V32V|CFLAR_ENST00000342795.5_Silent_p.V32V	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator		DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTATAGATGTGGTTCCACCTA	0.478													False	0	False	2:201994684	0	A	201994684	G	A	201994684	2	1	88	1	0	0	0	0	0	0	0	1	3315	1335	47	2		2	CFLAR	2	201994684	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	201994684	41204689	3213	10925											
CFLAR	8837	broad.mit.edu	37	chr2	202005146	202005146	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaagagtctcaaggatcCttcaaataacttcagggtga	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202005146C>A	ENST00000309955.3	+	5	1105	c.590C>A	c.(589-591)cCt>cAt	p.P197H	CFLAR_ENST00000440180.1_Missense_Mutation_p.P197H|CFLAR_ENST00000494258.1_Missense_Mutation_p.P101H|CFLAR_ENST00000443227.1_Missense_Mutation_p.P101H|CFLAR_ENST00000341222.6_Missense_Mutation_p.P197H|CFLAR_ENST00000457277.1_Missense_Mutation_p.P197H|CFLAR_ENST00000479953.2_Missense_Mutation_p.P101H|CFLAR_ENST00000355558.4_Missense_Mutation_p.P197H|CFLAR_ENST00000340870.5_Missense_Mutation_p.P197H|CFLAR_ENST00000341582.6_Missense_Mutation_p.P197H|CFLAR_ENST00000423241.2_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000342795.5_Missense_Mutation_p.P197H|CFLAR-AS1_ENST00000474886.2_RNA	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator		Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTCAAGGATCCTTCAAATAAC	0.398													False	0	False	2:202005146	0	A	202005146	C	A	202005146	3	1	88	1	0	0	0	0	1	0	0	0	3315	681	24	3	604	3	CFLAR	2	202005146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10462	202005146	41194227	3214	10926											
CFLAR	8837	broad.mit.edu	37	chr2	202025276	202025276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcccgagcaccgagactaCgacagctttgtgtgtgtcct	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202025276C>T	ENST00000309955.3	+	9	1430	c.915C>T	c.(913-915)taC>taT	p.Y305Y	CFLAR_ENST00000443227.1_Silent_p.Y209Y|CFLAR_ENST00000457277.1_Silent_p.Y305Y|CFLAR_ENST00000479953.2_Silent_p.Y209Y|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000340870.5_Silent_p.Y305Y|CFLAR_ENST00000341582.6_Silent_p.Y270Y|CFLAR_ENST00000423241.2_Silent_p.Y305Y	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator		Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ACCGAGACTACGACAGCTTTG	0.532													False	0	False	2:202025276	0	T	202025276	C	T	202025276	2	4	88	1	0	0	0	0	0	0	0	1	3315	547	19	1		1	CFLAR	2	202025276	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20130	202025276	41174097	3215	10927											
CASP10	843	broad.mit.edu	37	chr2	202050562	202050562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactgtaaagtgagctttcGtgagaagcttctgattattg	10	5	1	3	rs140813639	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202050562G>A	ENST00000286186.6	+	2	497	c.62G>A	c.(61-63)cGt>cAt	p.R21H	CASP10_ENST00000272879.5_Missense_Mutation_p.R21H|CASP10_ENST00000313728.7_Missense_Mutation_p.R21H|CASP10_ENST00000346817.5_Missense_Mutation_p.R21H|CASP10_ENST00000448480.1_Missense_Mutation_p.R21H|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_Missense_Mutation_p.R21H|CASP10_ENST00000374650.3_Missense_Mutation_p.R21H	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	21	DED 1.		R -> C (found in a multiple myeloma sample; somatic mutation).		apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTGAGCTTTCGTGAGAAGCTT	0.463													False	0	False	2:202050562	0	A	202050562	G	A	202050562	3	1	88	1	0	0	0	0	1	0	0	0	2689	1145	40	1	64	1	CASP10	2	202050562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25286	202050562	41148811	3216	10928											
CASP10	843	broad.mit.edu	37	chr2	202065193	202065193	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttgtttttttaaatgaaGgagaccgtggaaactcgcca	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202065193G>T	ENST00000374650.3	+	6	868	c.712G>T	c.(712-714)Gga>Tga	p.G238*	CASP10_ENST00000272879.5_Intron|CASP10_ENST00000313728.7_Intron|CASP10_ENST00000346817.5_Intron|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000492363.1_Intron|CASP10_ENST00000360132.3_Intron|CASP10_ENST00000286186.6_Intron			Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	238					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TTTAAATGAAGGAGACCGTGG	0.488													False	0	False	2:202065193	0	T	202065193	G	T	202065193	4	4	88	1	0	0	0	0	0	1	0	0	2689	1015	35	3		3	CASP10	2	202065193	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14631	202065193	41134180	3217	10929											
CASP8	841	broad.mit.edu	37	chr2	202149924	202149924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagatatatcccggatgaGgctgactttctgctggggat	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202149924G>A	ENST00000358485.4	+	8	1561	c.1365G>A	c.(1363-1365)gaG>gaA	p.E455E	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000432109.2_Silent_p.E396E|CASP8_ENST00000323492.7_Silent_p.E381E|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Silent_p.E312E|CASP8_ENST00000264275.5_Silent_p.E413E	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	396					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCCCGGATGAGGCTGACTTTC	0.463										HNSCC(4;0.00038)			False	0	False	2:202149924	0	A	202149924	G	A	202149924	2	1	88	1	0	0	0	0	0	0	0	1	2697	991	35	2		2	CASP8	2	202149924	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84731	202149924	41049449	3218	10930											
CASP8	841	broad.mit.edu	37	chr2	202150030	202150030	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccagagcctgagagagCgatgtcctcggtaagttttg	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202150030C>T	ENST00000358485.4	+	8	1667	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R432*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R417*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R348*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R449*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	432					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R449*(2)|p.R491*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTGAGAGAGCGATGTCCTCG	0.507										HNSCC(4;0.00038)			False	0	True	2:202150030	0	T	202150030	C	T	202150030	4	4	88	1	0	0	0	0	0	1	0	0	2697	760	27	1	1601	1	CASP8	2	202150030	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106	202150030	41049343	3219	10931											
TRAK2	66008	broad.mit.edu	37	chr2	202254168	202254168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagctgggaatgagatagAgcggccccgtgtgtcattgg	16	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202254168A>G	ENST00000332624.3	-	12	1680	c.1252T>C	c.(1252-1254)Tct>Cct	p.S418P		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	418	Interaction with HGS (By similarity).			Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AATGAGATAGAGCGGCCCCGT	0.483													False	0	False	2:202254168	0	G	202254168	A	G	202254168	3	3	88	1	0	0	0	0	1	0	0	0	16533	304	11	4	1512	4	TRAK2	2	202254168	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	104138	202254168	40945205	3220	10932											
TRAK2	66008	broad.mit.edu	37	chr2	202257678	202257678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagtagagatgagcagtaGggccagatctactacgaagt	13	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202257678G>T	ENST00000332624.3	-	10	1495	c.1067C>A	c.(1066-1068)cCt>cAt	p.P356H		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	356				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						ATGAGCAGTAGGGCCAGATCT	0.368													False	0	True	2:202257678	0	T	202257678	G	T	202257678	3	4	88	1	0	0	0	0	1	0	0	0	16533	1000	35	3	1705	3	TRAK2	2	202257678	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3510	202257678	40941695	3221	10933											
TRAK2	66008	broad.mit.edu	37	chr2	202272137	202272137	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatactcactcatgtaacggAaagtctcttcagcaaggact	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202272137A>T	ENST00000332624.3	-	3	703	c.275T>A	c.(274-276)tTc>tAc	p.F92Y	TRAK2_ENST00000430254.1_Missense_Mutation_p.F92Y	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	92						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATGTAACGGAAAGTCTCTTC	0.388													False	0	True	2:202272137	0	T	202272137	A	T	202272137	3	4	88	1	0	0	0	0	1	0	0	0	16533	246	9	5	2525	5	TRAK2	2	202272137	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14459	202272137	40927236	3222	10934											
STRADB	55437	broad.mit.edu	37	chr2	202339474	202339474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttatttctccatttatggcCtatggtaagaatgctggttt	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202339474C>T	ENST00000194530.3	+	6	785	c.420C>T	c.(418-420)gcC>gcT	p.A140A	STRADB_ENST00000392249.2_Silent_p.A140A	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	140	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CATTTATGGCCTATGGTAAGA	0.343													False	0	False	2:202339474	0	T	202339474	C	T	202339474	2	4	88	1	0	0	0	0	0	0	0	1	15407	668	24	2		2	STRADB	2	202339474	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67337	202339474	40859899	3223	10935											
MPP4	58538	broad.mit.edu	37	chr2	202520927	202520927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgctgggacatacccatgaGcactatgaggcggtacttgt	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202520927G>T	ENST00000409474.3	-	17	1501	c.1294C>A	c.(1294-1296)Ctc>Atc	p.L432I	MPP4_ENST00000315506.7_Missense_Mutation_p.L388I|MPP4_ENST00000428900.2_Missense_Mutation_p.L408I|MPP4_ENST00000409143.1_Missense_Mutation_p.L374I|MPP4_ENST00000447335.2_Missense_Mutation_p.L425I|MPP4_ENST00000396886.3_Missense_Mutation_p.L357I|MPP4_ENST00000359962.5_Missense_Mutation_p.L432I	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	432	Guanylate kinase-like.					cytoplasm	protein binding			kidney(1)|lung(11)	12						ATACCCATGAGCACTATGAGG	0.537													False	0	False	2:202520927	0	T	202520927	G	T	202520927	3	4	88	1	0	0	0	0	1	0	0	0	9803	971	34	3	643	3	MPP4	2	202520927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181453	202520927	40678446	3224	10936											
ALS2	57679	broad.mit.edu	37	chr2	202622146	202622146	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgacaacaatccagggaGggagagtcttcgactgcctc	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202622146G>T	ENST00000264276.6	-	5	1822	c.1450C>A	c.(1450-1452)Ctc>Atc	p.L484I		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	484					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AATCCAGGGAGGGAGAGTCTT	0.418													False	0	True	2:202622146	0	T	202622146	G	T	202622146	3	4	88	1	0	0	0	0	1	0	0	0	550	1000	35	3	3643	3	ALS2	2	202622146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101219	202622146	40577227	3225	10937											
ALS2	57679	broad.mit.edu	37	chr2	202625825	202625825	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcagtagcaacagactgatCatttgctacaagagtgttct	8	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202625825C>A	ENST00000264276.6	-	4	1264	c.892G>T	c.(892-894)Gat>Tat	p.D298Y	ALS2_ENST00000467448.1_Missense_Mutation_p.D298Y	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	298					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACAGACTGATCATTTGCTACA	0.458													False	0	False	2:202625825	0	A	202625825	C	A	202625825	3	1	88	1	0	0	0	0	1	0	0	0	550	826	29	3	4283	3	ALS2	2	202625825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3679	202625825	40573548	3226	10938											
ALS2	57679	broad.mit.edu	37	chr2	202632036	202632036	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcaatctctctggtgTtatgggaaaggatcctgcct	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202632036T>G	ENST00000264276.6	-	3	463	c.91A>C	c.(91-93)Aca>Cca	p.T31P	ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.T31P	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	31					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTCTCTGGTGTTATGGGAAAG	0.473													False	0	False	2:202632036	0	G	202632036	T	G	202632036	3	3	88	1	0	0	0	0	1	0	0	0	550	1725	60	4	5088	4	ALS2	2	202632036	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6211	202632036	40567337	3227	10939											
CDK15	65061	broad.mit.edu	37	chr2	202744776	202744776	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagggttcctgaagctgaaGacctggcctcccagatgcta	12	12	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202744776G>T	ENST00000450471.2	+	12	1170	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y	CDK15_ENST00000410091.3_Missense_Mutation_p.D311Y|CDK15_ENST00000260967.2_Missense_Mutation_p.D311Y|CDK15_ENST00000434439.1_Missense_Mutation_p.D362Y|CDK15_ENST00000374598.4_Missense_Mutation_p.D362Y	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	362	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TGAAGCTGAAGACCTGGCCTC	0.498													False	0	False	2:202744776	0	T	202744776	G	T	202744776	3	4	88	1	0	0	0	0	1	0	0	0	3154	942	33	3	973	3	CDK15	2	202744776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112740	202744776	40454597	3228	10940											
CDK15	65061	broad.mit.edu	37	chr2	202744820	202744820	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggctttcccagagaccgcgtCtccgcccaggaagcacttgt	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202744820C>A	ENST00000450471.2	+	12	1214	c.1128C>A	c.(1126-1128)gtC>gtA	p.V376V	CDK15_ENST00000410091.3_Silent_p.V325V|CDK15_ENST00000260967.2_Silent_p.V325V|CDK15_ENST00000434439.1_Silent_p.V376V|CDK15_ENST00000374598.4_Silent_p.V376V	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	376	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GAGACCGCGTCTCCGCCCAGG	0.547													False	0	False	2:202744820	0	A	202744820	C	A	202744820	2	1	88	1	0	0	0	0	0	0	0	1	3154	900	32	3		3	CDK15	2	202744820	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	202744820	40454553	3229	10941											
FZD7	8324	broad.mit.edu	37	chr2	202900483	202900483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcatgaagtggggccaCgaggccatcgaggccaactc	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202900483C>T	ENST00000286201.1	+	1	1174	c.1113C>T	c.(1111-1113)caC>caT	p.H371H		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	371					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						AGTGGGGCCACGAGGCCATCG	0.627											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:202900483	0	T	202900483	C	T	202900483	2	4	88	1	0	0	0	0	0	0	0	1	6177	535	19	1		1	FZD7	2	202900483	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155663	202900483	40298890	3230	10942											
FZD7	8324	broad.mit.edu	37	chr2	202900639	202900639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtggacgcgctgcggggCttcgtgctggcgcctctgtt	17	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202900639C>T	ENST00000286201.1	+	1	1330	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	423					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGCTGCGGGGCTTCGTGCTGG	0.617											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	2:202900639	0	T	202900639	C	T	202900639	2	4	88	1	0	0	0	0	0	0	0	1	6177	784	28	2		2	FZD7	2	202900639	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156	202900639	40298734	3231	10943											
NOP58	51602	broad.mit.edu	37	chr2	203139885	203139885	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatagtttatggaaagaatTtgaaactccagagaaagcaa	9	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203139885T>G	ENST00000264279.5	+	2	321	c.95T>G	c.(94-96)tTt>tGt	p.F32C	NOP58_ENST00000467734.1_Intron	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	32					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TGGAAAGAATTTGAAACTCCA	0.284													False	0	True	2:203139885	0	G	203139885	T	G	203139885	3	3	88	1	0	0	0	0	1	0	0	0	10608	1841	64	4	101	4	NOP58	2	203139885	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	239246	203139885	40059488	3232	10944											
NOP58	51602	broad.mit.edu	37	chr2	203149180	203149180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaccacgtgaaatggcagCtatgtgtcttggattggctc	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203149180C>T	ENST00000264279.5	+	5	636	c.410C>T	c.(409-411)gCt>gTt	p.A137V	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	137					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GAAATGGCAGCTATGTGTCTT	0.378													False	0	False	2:203149180	0	T	203149180	C	T	203149180	3	4	88	1	0	0	0	0	1	0	0	0	10608	797	28	2	428	2	NOP58	2	203149180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9295	203149180	40050193	3233	10945											
BMPR2	659	broad.mit.edu	37	chr2	203395674	203395674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagataatgcagccataagCgaggtgagtgtatacaaaag	12	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203395674C>T	ENST00000374580.4	+	8	1664	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	BMPR2_ENST00000374574.2_Silent_p.S375S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	375	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CAGCCATAAGCGAGGTGAGTG	0.438													False	0	False	2:203395674	0	T	203395674	C	T	203395674	2	4	88	1	0	0	0	0	0	0	0	1	1476	767	27	1		1	BMPR2	2	203395674	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246494	203395674	39803699	3234	10946											
BMPR2	659	broad.mit.edu	37	chr2	203417590	203417590	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccaacagtcaatccaatgtCtactgctatgcagaatgaac	6	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203417590C>T	ENST00000374580.4	+	11	2104	c.1565C>T	c.(1564-1566)tCt>tTt	p.S522F	BMPR2_ENST00000374574.2_Missense_Mutation_p.S522F	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	522					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AATCCAATGTCTACTGCTATG	0.418													False	0	False	2:203417590	0	T	203417590	C	T	203417590	3	4	88	1	0	0	0	0	1	0	0	0	1476	913	32	2	1607	2	BMPR2	2	203417590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21916	203417590	39781783	3235	10947											
BMPR2	659	broad.mit.edu	37	chr2	203420850	203420850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgttaactcccatgctgCcacaacccaatatgccaatg	6	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203420850C>T	ENST00000374580.4	+	12	3001	c.2462C>T	c.(2461-2463)gCc>gTc	p.A821V	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	821					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TCCCATGCTGCCACAACCCAA	0.458													False	0	False	2:203420850	0	T	203420850	C	T	203420850	3	4	88	1	0	0	0	0	1	0	0	0	1476	739	26	2	2508	2	BMPR2	2	203420850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3260	203420850	39778523	3236	10948											
BMPR2	659	broad.mit.edu	37	chr2	203424527	203424527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctccacctgggtcatctCcactgaatcgctggactgtg	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203424527C>T	ENST00000374580.4	+	13	3514	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	BMPR2_ENST00000374574.2_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	992					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TGGGTCATCTCCACTGAATCG	0.483													False	0	False	2:203424527	0	T	203424527	C	T	203424527	3	4	88	1	0	0	0	0	1	0	0	0	1476	855	30	2	3025	2	BMPR2	2	203424527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3677	203424527	39774846	3237	10949											
NBEAL1	65065	broad.mit.edu	37	chr2	204016309	204016309	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctagtgccttgagagataatCtgggtgagttccaatgactg	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204016309C>T	ENST00000449802.1	+	34	5830	c.5497C>T	c.(5497-5499)Ctg>Ttg	p.L1833L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1833							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAGAGATAATCTGGGTGAGTT	0.358													False	0	False	2:204016309	0	T	204016309	C	T	204016309	2	4	88	1	0	0	0	0	0	0	0	1	10255	912	32	2		2	NBEAL1	2	204016309	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	591782	204016309	39183064	3238	10950											
NBEAL1	65065	broad.mit.edu	37	chr2	204032000	204032000	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaaattcgagagattcatCtccggcgttacaatttaaga	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204032000C>A	ENST00000449802.1	+	37	6160	c.5827C>A	c.(5827-5829)Ctc>Atc	p.L1943I		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1943							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGAGATTCATCTCCGGCGTTA	0.363													False	0	False	2:204032000	0	A	204032000	C	A	204032000	3	1	88	1	0	0	0	0	1	0	0	0	10255	913	32	3	5969	3	NBEAL1	2	204032000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15691	204032000	39167373	3239	10951											
CYP20A1	57404	broad.mit.edu	37	chr2	204111546	204111546	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctggttaatttgcatgagaGatatgggcctgtggtctcct	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204111546G>T	ENST00000356079.4	+	3	314	c.191G>T	c.(190-192)aGa>aTa	p.R64I	CYP20A1_ENST00000461371.1_Intron|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R64I	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	64						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.R64I(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TTGCATGAGAGATATGGGCCT	0.428													False	0	True	2:204111546	0	T	204111546	G	T	204111546	3	4	88	1	0	0	0	0	1	0	0	0	4177	942	33	3	201	3	CYP20A1	2	204111546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79546	204111546	39087827	3240	10952											
CYP20A1	57404	broad.mit.edu	37	chr2	204131313	204131313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagccagcatatgcttgGttttgctatgaagtctgtta	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204131313G>A	ENST00000356079.4	+	5	632	c.509G>A	c.(508-510)gGt>gAt	p.G170D	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.G170D	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	170						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CATATGCTTGGTTTTGCTATG	0.433													False	0	True	2:204131313	0	A	204131313	G	A	204131313	3	1	88	1	0	0	0	0	1	0	0	0	4177	1261	44	2	527	2	CYP20A1	2	204131313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19767	204131313	39068060	3241	10953											
CYP20A1	57404	broad.mit.edu	37	chr2	204156990	204156990	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttttttttcacagaccctCgtcctttatgcccttggtgt	6	11	1	1	rs149090400	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204156990C>T	ENST00000356079.4	+	11	1212	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Silent_p.L371L	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	363						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CACAGACCCTCGTCCTTTATG	0.343													False	0	False	2:204156990	0	T	204156990	C	T	204156990	2	4	88	1	0	0	0	0	0	0	0	1	4177	871	31	1		1	CYP20A1	2	204156990	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25677	204156990	39042383	3242	10954											
ABI2	10152	broad.mit.edu	37	chr2	204231708	204231708	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaatgtcctgcagatgCtggatatccaggcatcccag	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204231708C>A	ENST00000261016.6	+	2	346	c.15C>A	c.(13-15)tgC>tgA	p.C5*	ABI2_ENST00000261017.5_Missense_Mutation_p.L76M|ABI2_ENST00000424558.1_Missense_Mutation_p.L76M|ABI2_ENST00000430418.1_Missense_Mutation_p.L76M|ABI2_ENST00000422511.2_Missense_Mutation_p.L76M|ABI2_ENST00000295851.5_Missense_Mutation_p.L76M			Q9NYB9	ABI2_HUMAN	abl-interactor 2	0					actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCTGCAGATGCTGGATATCCA	0.443													False	0	False	2:204231708	0	A	204231708	C	A	204231708	4	1	88	1	0	0	0	0	0	1	0	0	89	796	28	3	232	3	ABI2	2	204231708	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74718	204231708	38967665	3243	10955											
RAPH1	65059	broad.mit.edu	37	chr2	204313471	204313471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagacatgcctttgcaatgCggatcccattgacccactga	10	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204313471C>T	ENST00000319170.5	-	11	1801	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	RAPH1_ENST00000419464.1_Missense_Mutation_p.R501H|RAPH1_ENST00000374489.2_Missense_Mutation_p.R528H|RAPH1_ENST00000374488.2_Missense_Mutation_p.R526H|RAPH1_ENST00000308091.4_Missense_Mutation_p.R553H|RAPH1_ENST00000423104.1_Missense_Mutation_p.R528H|RAPH1_ENST00000457812.1_Missense_Mutation_p.R501H|RAPH1_ENST00000374493.3_Missense_Mutation_p.R553H|RAPH1_ENST00000418114.1_Missense_Mutation_p.R501H|RAPH1_ENST00000453034.1_Missense_Mutation_p.R553H|RAPH1_ENST00000439222.1_Missense_Mutation_p.R526H	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	501	PH.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTTGCAATGCGGATCCCATT	0.373													False	0	False	2:204313471	0	T	204313471	C	T	204313471	3	4	88	1	0	0	0	0	1	0	0	0	13129	768	27	1	2273	1	RAPH1	2	204313471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81763	204313471	38885902	3244	10956											
RAPH1	65059	broad.mit.edu	37	chr2	204320201	204320201	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtagataccagatgctcGcaagagaaaataacgctttt	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204320201G>A	ENST00000319170.5	-	9	1560	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	RAPH1_ENST00000419464.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000374489.2_Nonsense_Mutation_p.R448*|RAPH1_ENST00000374488.2_Nonsense_Mutation_p.R446*|RAPH1_ENST00000308091.4_Nonsense_Mutation_p.R473*|RAPH1_ENST00000423104.1_Nonsense_Mutation_p.R448*|RAPH1_ENST00000457812.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000374493.3_Nonsense_Mutation_p.R473*|RAPH1_ENST00000418114.1_Nonsense_Mutation_p.R421*|RAPH1_ENST00000453034.1_Nonsense_Mutation_p.R473*|RAPH1_ENST00000439222.1_Nonsense_Mutation_p.R446*	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	421	PH.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAGATGCTCGCAAGAGAAAA	0.383													False	0	False	2:204320201	0	A	204320201	G	A	204320201	4	1	88	1	0	0	0	0	0	1	0	0	13129	1095	38	1	2522	1	RAPH1	2	204320201	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6730	204320201	38879172	3245	10957											
CTLA4	1493	broad.mit.edu	37	chr2	204737463	204737463	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agccctcttacaacaggggtCtatgtgaaaatgcccccaac	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204737463C>A	ENST00000427473.2	+	3	524	c.379C>A	c.(379-381)Cta>Ata	p.L127I	CTLA4_ENST00000302823.3_Silent_p.V200V|CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000295854.6_Missense_Mutation_p.L164I|CTLA4_ENST00000472206.1_Missense_Mutation_p.L69I			P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	0	Ig-like V-type.				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	CAACAGGGGTCTATGTGAAAA	0.378													False	0	False	2:204737463	0	A	204737463	C	A	204737463	3	1	88	1	0	0	0	0	1	0	0	0	4036	912	32	3	614	3	CTLA4	2	204737463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	417262	204737463	38461910	3246	10958											
PARD3B	117583	broad.mit.edu	37	chr2	205551005	205551006	+	Splice_Site	INS	-	-	TTTAATGACCTAATCTAT													ttgttgaagataaagacaagINSgtagataactctaaaaatgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:205551005_205551006insTTTAATGACCTAATCTAT	ENST00000406610.2	+	2	429	c.222_222insTTTAATGACCTAATCTAT	c.(223-225)ctg>ctTTTAATGACCTAATCTATg	p.75_76insLMT*SM	PARD3B_ENST00000358768.2_Splice_Site_p.75_76insLMT*SM|PARD3B_ENST00000462231.1_Splice_Site_p.75_76insLMT*SM|PARD3B_ENST00000351153.1_Splice_Site_p.75_76insLMT*SM|PARD3B_ENST00000349953.3_Splice_Site_p.75_76insLMT*SM	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	75					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ATAAAGACAAGGTAGATAACTC	0.371													False	0	False	2:205551005	0	TTTAATGACCTAATCTAT	205551006	-	TTTAATGACCTAATCTAT	205551005	8	5	88	1	0	1	1	0	0	0	1	0	11512	1014	35	0	228	0	PARD3B	2	205551005	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	813542	205551005	37648368	3247	10959	162	2									
PARD3B	117583	broad.mit.edu	37	chr2	205551007	205551008	+	Splice_Site	INS	-	-	TAAAA													gttgaagataaagacaaggtINSagataactctaaaaatgtgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:205551007_205551008insTAAAA	ENST00000406610.2	+	2	429		c.e2+2		PARD3B_ENST00000358768.2_Splice_Site|PARD3B_ENST00000462231.1_Splice_Site|PARD3B_ENST00000351153.1_Splice_Site|PARD3B_ENST00000349953.3_Splice_Site	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta						cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAAGACAAGGTAGATAACTCTA	0.366													False	0	False	2:205551007	0	TAAAA	205551008	-	TAAAA	205551007	8	5	88	1	0	1	1	0	0	0	1	0	11512	1652	57	0	230	0	PARD3B	2	205551007	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	2	205551007	37648366	3248	10960	162	2									
PARD3B	117583	broad.mit.edu	37	chr2	205983693	205983693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagacaacagcaggtccaaGcgggagggactatttcacga	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:205983693G>A	ENST00000406610.2	+	7	936	c.729G>A	c.(727-729)aaG>aaA	p.K243K	PARD3B_ENST00000351153.1_Silent_p.K243K|PARD3B_ENST00000462231.1_Silent_p.K243K|PARD3B_ENST00000358768.2_Silent_p.K243K|PARD3B_ENST00000349953.3_Silent_p.K243K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	243	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCAGGTCCAAGCGGGAGGGAC	0.333													False	0	False	2:205983693	0	A	205983693	G	A	205983693	2	1	88	1	0	0	0	0	0	0	0	1	11512	962	34	2		2	PARD3B	2	205983693	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432686	205983693	37215680	3249	10961											
PARD3B	117583	broad.mit.edu	37	chr2	206110532	206110532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaaggttcactcattggCtggacaaaaatcgggtaaga	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206110532C>T	ENST00000406610.2	+	16	2378	c.2171C>T	c.(2170-2172)gCt>gTt	p.A724V	PARD3B_ENST00000351153.1_Missense_Mutation_p.A724V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A724V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A662V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A724V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	724					cell cycle|cell division	endomembrane system|tight junction		p.A662V(1)|p.A724V(1)|p.A663V(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CACTCATTGGCTGGACAAAAA	0.393													False	0	False	2:206110532	0	T	206110532	C	T	206110532	3	4	88	1	0	0	0	0	1	0	0	0	11512	797	28	2	2233	2	PARD3B	2	206110532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126839	206110532	37088841	3250	10962											
PARD3B	117583	broad.mit.edu	37	chr2	206165326	206165326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggagagtctgcagactgCagtggccgaggtcaggaaga	16	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206165326C>T	ENST00000406610.2	+	17	2465	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000462231.1_Missense_Mutation_p.A753V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A691V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A753V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	753					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTGCAGACTGCAGTGGCCGAG	0.532													False	0	False	2:206165326	0	T	206165326	C	T	206165326	3	4	88	1	0	0	0	0	1	0	0	0	11512	710	25	2	2324	2	PARD3B	2	206165326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54794	206165326	37034047	3251	10963											
PARD3B	117583	broad.mit.edu	37	chr2	206166414	206166414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaagaagaagggcttcggCgccatgctgaggtatgggcc	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206166414C>T	ENST00000406610.2	+	18	2826	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	PARD3B_ENST00000351153.1_Silent_p.G804G|PARD3B_ENST00000462231.1_Silent_p.G873G|PARD3B_ENST00000358768.2_Silent_p.G811G|PARD3B_ENST00000349953.3_Silent_p.G873G	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	873	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		aggGCTTCGGCGCCATGCTGA	0.433													False	0	False	2:206166414	0	T	206166414	C	T	206166414	2	4	88	1	0	0	0	0	0	0	0	1	11512	755	27	1		1	PARD3B	2	206166414	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1088	206166414	37032959	3252	10964											
NRP2	8828	broad.mit.edu	37	chr2	206590675	206590675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgggcatggagtctggcCggattgctaatgaacagatc	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206590675C>T	ENST00000360409.3	+	6	1650	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	NRP2_ENST00000540841.1_Missense_Mutation_p.R287W|NRP2_ENST00000417189.1_Missense_Mutation_p.R287W|NRP2_ENST00000540178.1_Missense_Mutation_p.R287W|NRP2_ENST00000272849.3_Missense_Mutation_p.R287W|NRP2_ENST00000412873.2_Missense_Mutation_p.R287W|NRP2_ENST00000357118.4_Missense_Mutation_p.R287W|NRP2_ENST00000355117.4_Missense_Mutation_p.R287W|NRP2_ENST00000357785.5_Missense_Mutation_p.R287W	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	287	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGAGTCTGGCCGGATTGCTAA	0.547													False	0	False	2:206590675	0	T	206590675	C	T	206590675	3	4	88	1	0	0	0	0	1	0	0	0	10729	643	23	1	881	1	NRP2	2	206590675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	424261	206590675	36608698	3253	10965											
NRP2	8828	broad.mit.edu	37	chr2	206592644	206592644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctttttaaccatgctcacGgccatcgcaacacagggagc	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206592644G>A	ENST00000360409.3	+	7	1811	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	NRP2_ENST00000540841.1_Silent_p.T340T|NRP2_ENST00000417189.1_Silent_p.T340T|NRP2_ENST00000540178.1_Silent_p.T340T|NRP2_ENST00000272849.3_Silent_p.T340T|NRP2_ENST00000412873.2_Silent_p.T340T|NRP2_ENST00000357118.4_Silent_p.T340T|NRP2_ENST00000355117.4_Silent_p.T340T|NRP2_ENST00000357785.5_Silent_p.T340T	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	340	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.T340T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCATGCTCACGGCCATCGCAA	0.502													False	0	False	2:206592644	0	A	206592644	G	A	206592644	2	1	88	1	0	0	0	0	0	0	0	1	10729	1103	39	1		1	NRP2	2	206592644	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1969	206592644	36606729	3254	10966											
NRP2	8828	broad.mit.edu	37	chr2	206608031	206608031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggagccccagtgcagccCgcctggttagcagccgctcg	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206608031C>T	ENST00000360409.3	+	9	2187	c.1396C>T	c.(1396-1398)Cgc>Tgc	p.R466C	NRP2_ENST00000540841.1_Missense_Mutation_p.R466C|NRP2_ENST00000417189.1_Missense_Mutation_p.R466C|NRP2_ENST00000540178.1_Missense_Mutation_p.R466C|NRP2_ENST00000272849.3_Missense_Mutation_p.R466C|NRP2_ENST00000412873.2_Missense_Mutation_p.R466C|NRP2_ENST00000357118.4_Missense_Mutation_p.R466C|NRP2_ENST00000355117.4_Missense_Mutation_p.R466C|NRP2_ENST00000357785.5_Missense_Mutation_p.R466C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	466	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAGTGCAGCCCGCCTGGTTAG	0.617													False	0	True	2:206608031	0	T	206608031	C	T	206608031	3	4	88	1	0	0	0	0	1	0	0	0	10729	652	23	1	1430	1	NRP2	2	206608031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15387	206608031	36591342	3255	10967											
NRP2	8828	broad.mit.edu	37	chr2	206641143	206641143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctatgcggccaagaagaccGatcactccatcacctacaaa	7	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206641143G>A	ENST00000357118.4	+	16	2630	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N	NRP2_ENST00000540841.1_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000272849.3_Missense_Mutation_p.D872N|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000357785.5_Intron	NM_201267.1	NP_957719	O60462	NRP2_HUMAN	neuropilin 2	0					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAAGAAGACCGATCACTCCAT	0.632											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:206641143	0	A	206641143	G	A	206641143	3	1	88	1	0	0	0	0	1	0	0	0	10729	1058	37	1	2703	1	NRP2	2	206641143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33112	206641143	36558230	3256	10968											
NRP2	8828	broad.mit.edu	37	chr2	206657010	206657010	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgaagatgaaattgatgGtgagtactgttatgatttag	11	1	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206657010G>A	ENST00000360409.3	+	16	3282		c.e16+1		NRP2_ENST00000540841.1_Intron|NRP2_ENST00000540178.1_Splice_Site|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000357785.5_Splice_Site	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2						angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAAATTGATGGTGAGTACTGT	0.333													False	0	False	2:206657010	0	A	206657010	G	A	206657010	5	1	88	1	0	0	0	0	0	0	1	0	10729	1275	44	2	2866	2	NRP2	2	206657010	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15867	206657010	36542363	3257	10969											
NRP2	8828	broad.mit.edu	37	chr2	206659526	206659526	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcttctgcaacctcagggtCtggcgccccctcgaccgaca	9	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206659526C>A	ENST00000360409.3	+	17	3331	c.2540C>A	c.(2539-2541)tCt>tAt	p.S847Y	NRP2_ENST00000540841.1_Missense_Mutation_p.S825Y|NRP2_ENST00000540178.1_Missense_Mutation_p.S842Y|NRP2_ENST00000412873.2_Missense_Mutation_p.S825Y|NRP2_ENST00000357785.5_Missense_Mutation_p.S842Y	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	847					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACCTCAGGGTCTGGCGCCCCC	0.542													False	0	False	2:206659526	0	A	206659526	C	A	206659526	3	1	88	1	0	0	0	0	1	0	0	0	10729	913	32	3	2918	3	NRP2	2	206659526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2516	206659526	36539847	3258	10970											
NRP2	8828	broad.mit.edu	37	chr2	206659634	206659634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctcctgggggccacctGtgcaggcctcctgctctact	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206659634G>A	ENST00000360409.3	+	17	3439	c.2648G>A	c.(2647-2649)tGt>tAt	p.C883Y	NRP2_ENST00000540841.1_Missense_Mutation_p.C861Y|NRP2_ENST00000540178.1_Missense_Mutation_p.C878Y|NRP2_ENST00000412873.2_Missense_Mutation_p.C861Y|NRP2_ENST00000357785.5_Missense_Mutation_p.C878Y	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	883					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGGGCCACCTGTGCAGGCCTC	0.592													False	0	False	2:206659634	0	A	206659634	G	A	206659634	3	1	88	1	0	0	0	0	1	0	0	0	10729	1377	48	2	3026	2	NRP2	2	206659634	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108	206659634	36539739	3259	10971											
INO80D	54891	broad.mit.edu	37	chr2	206869669	206869669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggtcactgtagggagacGgcacatgctcactatcataa	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206869669G>A	ENST00000403263.1	-	11	2911	c.2507C>T	c.(2506-2508)cCg>cTg	p.P836L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	836					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GTAGGGAGACGGCACATGCTC	0.507													False	0	False	2:206869669	0	A	206869669	G	A	206869669	3	1	88	1	0	0	0	0	1	0	0	0	7799	1116	39	1	580	1	INO80D	2	206869669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210035	206869669	36329704	3260	10972											
INO80D	54891	broad.mit.edu	37	chr2	206869879	206869880	+	Frame_Shift_Ins	INS	-	-	CTACCTTTTC													ctggctgatcagagtggcagINSaagtaaggccaacgttggct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206869879_206869880insCTACCTTTTC	ENST00000403263.1	-	11	2700_2701	c.2296_2297insGAAAAGGTAG	c.(2296-2298)tctfs	p.-765fs		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D						DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CAGAGTGGCAGAAGTAAGGCCA	0.584													False	0	False	2:206869879	0	CTACCTTTTC	206869880	-	CTACCTTTTC	206869879	7	5	88	1	0	1	1	0	0	0	0	0	7799	942	33	0	790	0	INO80D	2	206869879	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	210	206869879	36329494	3261	10973											
INO80D	54891	broad.mit.edu	37	chr2	206870181	206870181	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaatggtactcaggcactcGagagaagttacagcctgcaa	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206870181G>A	ENST00000403263.1	-	11	2399	c.1995C>T	c.(1993-1995)ctC>ctT	p.L665L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	665					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCAGGCACTCGAGAGAAGTTA	0.542													False	0	True	2:206870181	0	A	206870181	G	A	206870181	2	1	88	1	0	0	0	0	0	0	0	1	7799	1045	37	1		1	INO80D	2	206870181	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302	206870181	36329192	3262	10974											
NDUFS1	4719	broad.mit.edu	37	chr2	207012502	207012502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcacattcacctccctggTcacaaataggacagtccaat	6	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207012502T>C	ENST00000233190.6	-	6	661	c.395A>G	c.(394-396)gAc>gGc	p.D132G	NDUFS1_ENST00000423725.1_Missense_Mutation_p.D75G|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D96G|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D16G|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D21G|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D146G|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D132G	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	ACCTCCCTGGTCACAAATAGG	0.363													False	0	False	2:207012502	0	C	207012502	T	C	207012502	3	2	88	1	0	0	0	0	1	0	0	0	10359	1667	58	4	1844	4	NDUFS1	2	207012502	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	142321	207012502	36186871	3263	10975											
ZDBF2	57683	broad.mit.edu	37	chr2	207169653	207169653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacgcaggaggtttcagttcGaccatcagttattcaaaaac	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207169653G>A	ENST00000374423.3	+	5	787	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	134							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTTTCAGTTCGACCATCAGTT	0.443													False	0	False	2:207169653	0	A	207169653	G	A	207169653	3	1	88	1	0	0	0	0	1	0	0	0	17682	1058	37	1	411	1	ZDBF2	2	207169653	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157151	207169653	36029720	3264	10976											
ZDBF2	57683	broad.mit.edu	37	chr2	207170780	207170780	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccactagtgactaccccCaacaatctgtaacagaagta	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207170780C>T	ENST00000374423.3	+	5	1914	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	510							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGACTACCCCCAACAATCTGT	0.413													False	0	True	2:207170780	0	T	207170780	C	T	207170780	4	4	88	1	0	0	0	0	0	1	0	0	17682	595	21	2	1538	2	ZDBF2	2	207170780	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1127	207170780	36028593	3265	10977											
ZDBF2	57683	broad.mit.edu	37	chr2	207172649	207172649	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggctgatcaacccaaaGtagctattaaacatgtgaac	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207172649G>T	ENST00000374423.3	+	5	3783	c.3397G>T	c.(3397-3399)Gta>Tta	p.V1133L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1133							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAACCCAAAGTAGCTATTAA	0.338													False	0	True	2:207172649	0	T	207172649	G	T	207172649	3	4	88	1	0	0	0	0	1	0	0	0	17682	1029	36	3	3407	3	ZDBF2	2	207172649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1869	207172649	36026724	3266	10978											
ZDBF2	57683	broad.mit.edu	37	chr2	207172773	207172773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtcagtcaatagtcaatcGacctcaaataactattttgg	8	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207172773G>A	ENST00000374423.3	+	5	3907	c.3521G>A	c.(3520-3522)cGa>cAa	p.R1174Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1174							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATAGTCAATCGACCTCAAATA	0.373													False	0	False	2:207172773	0	A	207172773	G	A	207172773	3	1	88	1	0	0	0	0	1	0	0	0	17682	1058	37	1	3531	1	ZDBF2	2	207172773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124	207172773	36026600	3267	10979											
ZDBF2	57683	broad.mit.edu	37	chr2	207175371	207175371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttgggataatgatattcGgtttatatgcaaatataaac	8	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207175371G>A	ENST00000374423.3	+	5	6505	c.6119G>A	c.(6118-6120)cGg>cAg	p.R2040Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2040							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATGATATTCGGTTTATATGC	0.353													False	0	False	2:207175371	0	A	207175371	G	A	207175371	3	1	88	1	0	0	0	0	1	0	0	0	17682	1116	39	1	6129	1	ZDBF2	2	207175371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2598	207175371	36024002	3268	10980											
ADAM23	8745	broad.mit.edu	37	chr2	207424741	207424741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagagacctggactgagaaGgatcagattgacatcaccac	11	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207424741G>A	ENST00000264377.3	+	11	1396	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ADAM23_ENST00000374416.1_Silent_p.K356K|ADAM23_ENST00000374415.3_Silent_p.K356K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	356	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGACTGAGAAGGATCAGATTG	0.507													False	0	False	2:207424741	0	A	207424741	G	A	207424741	2	1	88	1	0	0	0	0	0	0	0	1	245	991	35	2		2	ADAM23	2	207424741	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249370	207424741	35774632	3269	10981											
MDH1B	130752	broad.mit.edu	37	chr2	207604335	207604335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatttaggaactcaagacTctgtggcttttcaaaggtgg	10	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207604335T>C	ENST00000374412.3	-	11	1785	c.1510A>G	c.(1510-1512)Agt>Ggt	p.S504G	MDH1B_ENST00000449792.1_Missense_Mutation_p.S406G|MDH1B_ENST00000454776.2_Missense_Mutation_p.S503G	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	504					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AACTCAAGACTCTGTGGCTTT	0.348													False	0	False	2:207604335	0	C	207604335	T	C	207604335	3	2	88	1	0	0	0	0	1	0	0	0	9476	1551	54	4	54	4	MDH1B	2	207604335	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	179594	207604335	35595038	3270	10982											
MDH1B	130752	broad.mit.edu	37	chr2	207620181	207620181	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgcatcccaaacacttcGccactcgtcaatatgggaat	7	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207620181G>A	ENST00000374412.3	-	5	737	c.462C>T	c.(460-462)ggC>ggT	p.G154G	MDH1B_ENST00000449792.1_Silent_p.G56G|MDH1B_ENST00000454776.2_Silent_p.G154G|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	154					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAAACACTTCGCCACTCGTCA	0.443													False	0	False	2:207620181	0	A	207620181	G	A	207620181	2	1	88	1	0	0	0	0	0	0	0	1	9476	1074	38	1		1	MDH1B	2	207620181	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15846	207620181	35579192	3271	10983											
FASTKD2	22868	broad.mit.edu	37	chr2	207631704	207631704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaaacaaagggcataaGcactctaacagcccttagaa	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207631704G>T	ENST00000236980.6	+	2	635	c.287G>T	c.(286-288)aGc>aTc	p.S96I	FASTKD2_ENST00000402774.3_Missense_Mutation_p.S96I|FASTKD2_ENST00000403094.3_Missense_Mutation_p.S96I	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	96					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAGGGCATAAGCACTCTAACA	0.338													False	0	False	2:207631704	0	T	207631704	G	T	207631704	3	4	88	1	0	0	0	0	1	0	0	0	5726	971	34	3	289	3	FASTKD2	2	207631704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11523	207631704	35567669	3272	10984											
FASTKD2	22868	broad.mit.edu	37	chr2	207631743	207631743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgaaagactactttatgCtaaaagactgttttttgact	6	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207631743C>T	ENST00000236980.6	+	2	674	c.326C>T	c.(325-327)gCt>gTt	p.A109V	FASTKD2_ENST00000402774.3_Missense_Mutation_p.A109V|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A109V	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	109					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTACTTTATGCTAAAAGACTG	0.343													False	0	False	2:207631743	0	T	207631743	C	T	207631743	3	4	88	1	0	0	0	0	1	0	0	0	5726	797	28	2	328	2	FASTKD2	2	207631743	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39	207631743	35567630	3273	10985											
FASTKD2	22868	broad.mit.edu	37	chr2	207636969	207636969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcctgcaaagacctccaGtaccataatttggatctctt	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207636969G>A	ENST00000236980.6	+	6	1527	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q	FASTKD2_ENST00000402774.3_Silent_p.Q393Q|FASTKD2_ENST00000403094.3_Silent_p.Q393Q	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	393					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAGACCTCCAGTACCATAATT	0.343													False	0	False	2:207636969	0	A	207636969	G	A	207636969	2	1	88	1	0	0	0	0	0	0	0	1	5726	1020	36	2		2	FASTKD2	2	207636969	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5226	207636969	35562404	3274	10986											
FASTKD2	22868	broad.mit.edu	37	chr2	207655375	207655375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattccttgctatgaaaatgCggcatttgaatgcaatgggt	11	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207655375C>T	ENST00000236980.6	+	11	2326	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	FASTKD2_ENST00000402774.3_Missense_Mutation_p.R660W|FASTKD2_ENST00000403094.3_Missense_Mutation_p.R660W	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	660	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TATGAAAATGCGGCATTTGAA	0.368													False	0	False	2:207655375	0	T	207655375	C	T	207655375	3	4	88	1	0	0	0	0	1	0	0	0	5726	759	27	1	2016	1	FASTKD2	2	207655375	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18406	207655375	35543998	3275	10987											
CPO	130749	broad.mit.edu	37	chr2	207823081	207823081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatggactgtggaattcaCgccagagaatggattgctcc	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207823081C>T	ENST00000272852.3	+	4	370	c.324C>T	c.(322-324)caC>caT	p.H108H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	108					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GTGGAATTCACGCCAGAGAAT	0.408													False	0	False	2:207823081	0	T	207823081	C	T	207823081	2	4	88	1	0	0	0	0	0	0	0	1	3843	535	19	1		1	CPO	2	207823081	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167706	207823081	35376292	3276	10988											
CPO	130749	broad.mit.edu	37	chr2	207824388	207824388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaagacaactcaagtataCgcaagctccttaggaacctg	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207824388C>T	ENST00000272852.3	+	5	452	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	136					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTCAAGTATACGCAAGCTCCT	0.348													False	0	False	2:207824388	0	T	207824388	C	T	207824388	3	4	88	1	0	0	0	0	1	0	0	0	3843	536	19	1	424	1	CPO	2	207824388	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1307	207824388	35374985	3277	10989											
CPO	130749	broad.mit.edu	37	chr2	207824432	207824432	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctatgtccttccagttctTaacatagatggttatatcta	5	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207824432T>C	ENST00000272852.3	+	5	496	c.450T>C	c.(448-450)ctT>ctC	p.L150L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	150					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TTCCAGTTCTTAACATAGATG	0.373													False	0	False	2:207824432	0	C	207824432	T	C	207824432	2	2	88	1	0	0	0	0	0	0	0	1	3843	1741	61	4		4	CPO	2	207824432	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44	207824432	35374941	3278	10990											
CCNYL1	151195	broad.mit.edu	37	chr2	208589556	208589556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtcaaacccttctgaccatCcaagggcaagcacaattttc	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208589556C>T	ENST00000295414.3	+	2	464	c.253C>T	c.(253-255)Cca>Tca	p.P85S	CCNYL1_ENST00000339882.5_Missense_Mutation_p.P85S|CCNYL1_ENST00000392209.3_Missense_Mutation_p.P15S			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	85					regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		TTCTGACCATCCAAGGGCAAG	0.368													False	0	False	2:208589556	0	T	208589556	C	T	208589556	3	4	88	1	0	0	0	0	1	0	0	0	2960	855	30	2	259	2	CCNYL1	2	208589556	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	765124	208589556	34609817	3279	10991											
PLEKHM3	389072	broad.mit.edu	37	chr2	208725853	208725853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgaaatatcctcaaaaGggtagaggatctctccattg	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208725853G>T	ENST00000427836.2	-	7	2573	c.2084C>A	c.(2083-2085)cCt>cAt	p.P695H	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P695H	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	695					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCTCAAAAGGGTAGAGGAT	0.398													False	0	True	2:208725853	0	T	208725853	G	T	208725853	3	4	88	1	0	0	0	0	1	0	0	0	12151	1000	35	3	209	3	PLEKHM3	2	208725853	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136297	208725853	34473520	3280	10992											
PLEKHM3	389072	broad.mit.edu	37	chr2	208811193	208811193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccacccactgtagttgcaCaccttggctttcccattgga	7	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208811193C>T	ENST00000457206.1	-	4	2017	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	PLEKHM3_ENST00000389247.4_Silent_p.V530V|PLEKHM3_ENST00000427836.2_Silent_p.V530V			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	530					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTAGTTGCACACCTTGGCTT	0.453													False	0	False	2:208811193	0	T	208811193	C	T	208811193	2	4	88	1	0	0	0	0	0	0	0	1	12151	465	17	2		2	PLEKHM3	2	208811193	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85340	208811193	34388180	3281	10993											
PLEKHM3	389072	broad.mit.edu	37	chr2	208841720	208841720	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cacgttgtagctcaacagtgGatcctcgtctagcttgccag	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208841720G>T	ENST00000457206.1	-	3	1628	c.1201C>A	c.(1201-1203)Cca>Aca	p.P401T	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P401T|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.P401T			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	401	PH 2.				intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCAACAGTGGATCCTCGTCT	0.507													False	0	False	2:208841720	0	T	208841720	G	T	208841720	3	4	88	1	0	0	0	0	1	0	0	0	12151	1174	41	3	1108	3	PLEKHM3	2	208841720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30527	208841720	34357653	3282	10994											
CRYGD	1421	broad.mit.edu	37	chr2	208986578	208986578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatttcattgaagcggaagCggtcctgaagacaggagcag	15	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208986578C>T	ENST00000264376.4	-	3	371	c.344G>A	c.(343-345)cGc>cAc	p.R115H		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	115	Beta/gamma crystallin 'Greek key' 3.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GAAGCGGAAGCGGTCCTGAAG	0.562													False	0	True	2:208986578	0	T	208986578	C	T	208986578	3	4	88	1	0	0	0	0	1	0	0	0	3940	768	27	1	184	1	CRYGD	2	208986578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144858	208986578	34212795	3283	10995											
CRYGC	1420	broad.mit.edu	37	chr2	208994239	208994239	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtcggggtactcccctcGccgcagcaagtattgttgac	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208994239G>A	ENST00000282141.3	-	2	215	c.178C>T	c.(178-180)Cga>Tga	p.R60*		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	60	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TACTCCCCTCGCCGCAGCAAG	0.567													False	0	False	2:208994239	0	A	208994239	G	A	208994239	4	1	88	1	0	0	0	0	0	1	0	0	3939	1095	38	1	354	1	CRYGC	2	208994239	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7661	208994239	34205134	3284	10996											
CRYGB	1419	broad.mit.edu	37	chr2	209010739	209010739	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtcctcgtagaaggtgAtctgaaaaatggaagatgtg	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209010739A>G	ENST00000260988.4	-	2	58	c.11T>C	c.(10-12)aTc>aCc	p.I4T		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	4	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GTAGAAGGTGATCTGAAAAAT	0.562													False	0	False	2:209010739	0	G	209010739	A	G	209010739	5	3	88	1	0	0	0	0	0	0	1	0	3938	347	12	4	524	4	CRYGB	2	209010739	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16500	209010739	34188634	3285	10997											
IDH1	3417	broad.mit.edu	37	chr2	209113362	209113362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggtcgttggtggcatcacGattctctatgcctaaatcat	9	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209113362G>A	ENST00000415913.1	-	4	526	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	IDH1_ENST00000345146.2_Missense_Mutation_p.R49C|IDH1_ENST00000446179.1_Missense_Mutation_p.R49C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	49					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GTGGCATCACGATTCTCTATG	0.398			Mis		gliobastoma								False	0	False	2:209113362	0	A	209113362	G	A	209113362	3	1	88	1	0	0	0	0	1	0	0	0	7544	1058	37	1	1127	1	IDH1	2	209113362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102623	209113362	34086011	3286	10998											
PIKFYVE	200576	broad.mit.edu	37	chr2	209180055	209180055	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacctgatgtcaagaaccaGgatgatgacatggatatccg	11	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209180055G>T	ENST00000264380.4	+	15	2123	c.1965G>T	c.(1963-1965)caG>caT	p.Q655H		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	655					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCAAGAACCAGGATGATGACA	0.448													False	0	False	2:209180055	0	T	209180055	G	T	209180055	3	4	88	1	0	0	0	0	1	0	0	0	11993	991	35	3	2030	3	PIKFYVE	2	209180055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66693	209180055	34019318	3287	10999											
MAP2	4133	broad.mit.edu	37	chr2	210559440	210559440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtcgtactggcttgccccCggtaactgatgaaaaccatg	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210559440C>T	ENST00000360351.4	+	7	3052	c.2546C>T	c.(2545-2547)cCg>cTg	p.P849L	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P845L|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	849					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.P849R(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGCTTGCCCCCGGTAACTGAT	0.493													False	0	True	2:210559440	0	T	210559440	C	T	210559440	3	4	88	1	0	0	0	0	1	0	0	0	9302	652	23	1	2560	1	MAP2	2	210559440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1379385	210559440	32639933	3288	11000											
MAP2	4133	broad.mit.edu	37	chr2	210559824	210559824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgattcaaaagaacatgCcaagaaaactgaagaggctg	10	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210559824C>T	ENST00000360351.4	+	7	3436	c.2930C>T	c.(2929-2931)gCc>gTc	p.A977V	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A973V|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	977					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAAGAACATGCCAAGAAAACT	0.393													False	0	False	2:210559824	0	T	210559824	C	T	210559824	3	4	88	1	0	0	0	0	1	0	0	0	9302	739	26	2	2944	2	MAP2	2	210559824	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	384	210559824	32639549	3289	11001											
RPE	6120	broad.mit.edu	37	chr2	210880820	210880820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttgattaaagacattcGggagaatgggatgaaggtaa	14	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210880820G>A	ENST00000359429.6	+	3	423	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	RPE_ENST00000435437.2_Missense_Mutation_p.R109Q|RPE_ENST00000454822.1_Missense_Mutation_p.R41Q|RPE_ENST00000354506.6_Missense_Mutation_p.R83Q|RPE_ENST00000438204.2_Missense_Mutation_p.R41Q|RPE_ENST00000445268.1_Missense_Mutation_p.R41Q|RPE_ENST00000540255.1_Missense_Mutation_p.R109Q|RPE_ENST00000452025.1_Missense_Mutation_p.R109Q|RPE_ENST00000436630.2_Missense_Mutation_p.R41Q|RPE_ENST00000411934.2_Missense_Mutation_p.R41Q|RPE_ENST00000429921.1_Missense_Mutation_p.R41Q|RPE_ENST00000429907.1_Missense_Mutation_p.R41Q	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	109					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AAAGACATTCGGGAGAATGGG	0.438													False	0	True	2:210880820	0	A	210880820	G	A	210880820	3	1	88	1	0	0	0	0	1	0	0	0	13623	1116	39	1	336	1	RPE	2	210880820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	320996	210880820	32318553	3290	11002											
RPE	6120	broad.mit.edu	37	chr2	210882204	210882204	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtatatatctaggttcactGgttgaggacccagttcccat	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210882204G>T	ENST00000359429.6	+	5	582	c.485G>T	c.(484-486)tGg>tTg	p.W162L	RPE_ENST00000435437.2_Missense_Mutation_p.W162L|RPE_ENST00000454822.1_Missense_Mutation_p.W112L|RPE_ENST00000354506.6_Missense_Mutation_p.W154L|RPE_ENST00000438204.2_Missense_Mutation_p.W94L|RPE_ENST00000445268.1_Missense_Mutation_p.W94L|RPE_ENST00000540255.1_Intron|RPE_ENST00000452025.1_Missense_Mutation_p.W162L|RPE_ENST00000436630.2_Missense_Mutation_p.W112L|RPE_ENST00000411934.2_Missense_Mutation_p.W94L|RPE_ENST00000429921.1_Missense_Mutation_p.W112L|RPE_ENST00000429907.1_Missense_Mutation_p.W94L	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	162					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TAGGTTCACTGGTTGAGGACC	0.453													False	0	False	2:210882204	0	T	210882204	G	T	210882204	3	4	88	1	0	0	0	0	1	0	0	0	13623	1357	47	3	561	3	RPE	2	210882204	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1384	210882204	32317169	3291	11003											
ACADL	33	broad.mit.edu	37	chr2	211074960	211074960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcacttccatcctttttaGcatttgtttttattccctgt	4	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211074960G>A	ENST00000233710.3	-	5	790	c.563C>T	c.(562-564)gCt>gTt	p.A188V	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	188					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATCCTTTTTAGCATTTGTTTT	0.303													False	0	False	2:211074960	0	A	211074960	G	A	211074960	3	1	88	1	0	0	0	0	1	0	0	0	112	971	34	2	757	2	ACADL	2	211074960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192756	211074960	32124413	3292	11004											
LANCL1	10314	broad.mit.edu	37	chr2	211319832	211319832	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatagaaacatgattaccGtgtgatgcaatcttctgcct	7	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211319832G>A	ENST00000443314.1	-	3	748	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000441020.3_Splice_Site_p.R136W|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000431941.2_Splice_Site_p.R136W|LANCL1_ENST00000233714.4_Splice_Site_p.R136W|LANCL1_ENST00000450366.2_Splice_Site_p.R136W			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	136						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		CATGATTACCGTGTGATGCAA	0.413													False	0	False	2:211319832	0	A	211319832	G	A	211319832	5	1	88	1	0	0	0	0	0	0	1	0	8671	1159	40	1	821	1	LANCL1	2	211319832	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244872	211319832	31879541	3293	11005											
CPS1	1373	broad.mit.edu	37	chr2	211454881	211454881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accatgatttcaccaagatgGagtatgatgggattttgatc	10	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211454881G>A	ENST00000233072.5	+	8	959	c.763G>A	c.(763-765)Gag>Aag	p.E255K	CPS1_ENST00000430249.2_Missense_Mutation_p.E261K	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	255	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CACCAAGATGGAGTATGATGG	0.443													False	0	False	2:211454881	0	A	211454881	G	A	211454881	3	1	88	1	0	0	0	0	1	0	0	0	3846	1175	41	2	815	2	CPS1	2	211454881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135049	211454881	31744492	3294	11006											
CPS1	1373	broad.mit.edu	37	chr2	211481151	211481151	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctcttggcaggccaTtgatgacaacatgtcccttg	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211481151T>A	ENST00000233072.5	+	21	2769	c.2573T>A	c.(2572-2574)aTt>aAt	p.I858N	CPS1_ENST00000451903.2_Missense_Mutation_p.I407N|CPS1_ENST00000430249.2_Missense_Mutation_p.I864N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	858					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGGCAGGCCATTGATGACAAC	0.358													False	0	False	2:211481151	0	A	211481151	T	A	211481151	3	1	88	1	0	0	0	0	1	0	0	0	3846	1493	52	5	2677	5	CPS1	2	211481151	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26270	211481151	31718222	3295	11007											
CPS1	1373	broad.mit.edu	37	chr2	211502491	211502491	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttctcagataagcagatttCaaaatgccttgggctcactg	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211502491C>A	ENST00000233072.5	+	22	2949	c.2753C>A	c.(2752-2754)tCa>tAa	p.S918*	CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Nonsense_Mutation_p.S467*|CPS1_ENST00000430249.2_Nonsense_Mutation_p.S924*	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	918			S -> P (in CPS1D).		carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAGCAGATTTCAAAATGCCTT	0.438													False	0	True	2:211502491	0	A	211502491	C	A	211502491	4	1	88	1	0	0	0	0	0	1	0	0	3846	838	29	3	2861	3	CPS1	2	211502491	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21340	211502491	31696882	3296	11008											
CPS1	1373	broad.mit.edu	37	chr2	211521337	211521337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccacacaaaccatcaGccaaggggccattgaaaagg	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211521337G>A	ENST00000233072.5	+	30	3843	c.3647G>A	c.(3646-3648)aGc>aAc	p.S1216N	CPS1_ENST00000451903.2_Missense_Mutation_p.S765N|CPS1_ENST00000430249.2_Missense_Mutation_p.S1222N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1216	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAAACCATCAGCCAAGGGGCC	0.408													False	0	False	2:211521337	0	A	211521337	G	A	211521337	3	1	88	1	0	0	0	0	1	0	0	0	3846	971	34	2	3787	2	CPS1	2	211521337	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18846	211521337	31678036	3297	11009											
CPS1	1373	broad.mit.edu	37	chr2	211533008	211533008	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcctgataggcatccaGgtaagtggtttgtggctgtg	15	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211533008G>A	ENST00000233072.5	+	34	4297	c.4101G>A	c.(4099-4101)caG>caA	p.Q1367Q	CPS1_ENST00000451903.2_Splice_Site_p.Q916Q|CPS1_ENST00000430249.2_Splice_Site_p.Q1373Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1367					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TAGGCATCCAGGTAAGTGGTT	0.473													False	0	False	2:211533008	0	A	211533008	G	A	211533008	5	1	88	1	0	0	0	0	0	0	1	0	3846	1014	35	2	4257	2	CPS1	2	211533008	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11671	211533008	31666365	3298	11010											
ERBB4	2066	broad.mit.edu	37	chr2	212251629	212251629	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaaccttcctcatccagctCtcctcgtgggctccgttctg	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212251629C>A	ENST00000342788.4	-	27	3740	c.3430G>T	c.(3430-3432)Gag>Tag	p.E1144*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.E1134*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.E1128*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1144					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCATCCAGCTCTCCTCGTGGG	0.527										TSP Lung(8;0.080)			False	0	False	2:212251629	0	A	212251629	C	A	212251629	4	1	88	1	0	0	0	0	0	1	0	0	5241	922	32	3	504	3	ERBB4	2	212251629	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	718621	212251629	30947744	3299	11011											
ERBB4	2066	broad.mit.edu	37	chr2	212285171	212285171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataattatttcttaccctatTcgagtcaattcttgctctgg	5	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285171T>C	ENST00000342788.4	-	25	3440	c.3130A>G	c.(3130-3132)Aat>Gat	p.N1044D	ERBB4_ENST00000402597.1_Missense_Mutation_p.N1034D|ERBB4_ENST00000436443.1_Missense_Mutation_p.N1044D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1044					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTTACCCTATTCGAGTCAATT	0.343										TSP Lung(8;0.080)			False	0	False	2:212285171	0	C	212285171	T	C	212285171	3	2	88	1	0	0	0	0	1	0	0	0	5241	1783	62	4	812	4	ERBB4	2	212285171	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33542	212285171	30914202	3300	11012											
ERBB4	2066	broad.mit.edu	37	chr2	212285274	212285274	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatcttccaaatcctcttcAtccaagagattctgaaagaa	4	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285274A>G	ENST00000342788.4	-	25	3337	c.3027T>C	c.(3025-3027)gaT>gaC	p.D1009D	ERBB4_ENST00000402597.1_Silent_p.D999D|ERBB4_ENST00000436443.1_Silent_p.D1009D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1009					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AATCCTCTTCATCCAAGAGAT	0.428										TSP Lung(8;0.080)			False	0	False	2:212285274	0	G	212285274	A	G	212285274	2	3	88	1	0	0	0	0	0	0	0	1	5241	214	8	4		4	ERBB4	2	212285274	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103	212285274	30914099	3301	11013											
ERBB4	2066	broad.mit.edu	37	chr2	212285328	212285328	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactgggaagcttcatacgAtcatcaccctaaaagaaaga	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285328A>G	ENST00000342788.4	-	25	3283	c.2973T>C	c.(2971-2973)gaT>gaC	p.D991D	ERBB4_ENST00000402597.1_Silent_p.D981D|ERBB4_ENST00000436443.1_Silent_p.D991D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	991					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCTTCATACGATCATCACCCT	0.363										TSP Lung(8;0.080)			False	0	False	2:212285328	0	G	212285328	A	G	212285328	2	3	88	1	0	0	0	0	0	0	0	1	5241	330	12	4		4	ERBB4	2	212285328	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	54	212285328	30914045	3302	11014											
ERBB4	2066	broad.mit.edu	37	chr2	212488760	212488760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccactgggagttaatgGttccaccaactgcaaagcgg	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212488760G>A	ENST00000342788.4	-	18	2399	c.2089C>T	c.(2089-2091)Cca>Tca	p.P697S	ERBB4_ENST00000402597.1_Missense_Mutation_p.P687S|ERBB4_ENST00000436443.1_Missense_Mutation_p.P697S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	697					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGAGTTAATGGTTCCACCAAC	0.458										TSP Lung(8;0.080)			False	0	False	2:212488760	0	A	212488760	G	A	212488760	3	1	88	1	0	0	0	0	1	0	0	0	5241	1261	44	2	1881	2	ERBB4	2	212488760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203432	212488760	30710613	3303	11015											
ERBB4	2066	broad.mit.edu	37	chr2	212495251	212495251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttccttctaacataaacaGcaaatgtcagacccacaatg	4	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212495251G>T	ENST00000342788.4	-	17	2325	c.2015C>A	c.(2014-2016)gCt>gAt	p.A672D	ERBB4_ENST00000402597.1_Missense_Mutation_p.A662D|ERBB4_ENST00000436443.1_Missense_Mutation_p.A672D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	672					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AACATAAACAGCAAATGTCAG	0.403										TSP Lung(8;0.080)			False	0	False	2:212495251	0	T	212495251	G	T	212495251	3	4	88	1	0	0	0	0	1	0	0	0	5241	971	34	3	1959	3	ERBB4	2	212495251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6491	212495251	30704122	3304	11016											
ERBB4	2066	broad.mit.edu	37	chr2	212615400	212615400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtgggtccccagcaacGgccagtacaggacttatggc	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212615400G>A	ENST00000342788.4	-	5	896	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ERBB4_ENST00000402597.1_Missense_Mutation_p.R196C|ERBB4_ENST00000436443.1_Missense_Mutation_p.R196C|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	196	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCCCAGCAACGGCCAGTACAG	0.453										TSP Lung(8;0.080)			False	0	False	2:212615400	0	A	212615400	G	A	212615400	3	1	88	1	0	0	0	0	1	0	0	0	5241	1116	39	1	3436	1	ERBB4	2	212615400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120149	212615400	30583973	3305	11017											
IKZF2	22807	broad.mit.edu	37	chr2	213872294	213872294	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctccattgaagaccttgtaGatgtccttcagagagccctt	8	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213872294G>T	ENST00000457361.1	-	8	1539	c.1371C>A	c.(1369-1371)atC>atA	p.I457I	IKZF2_ENST00000374319.4_Silent_p.I431I|IKZF2_ENST00000374327.4_Silent_p.I312I|IKZF2_ENST00000342002.2_Silent_p.I463I|IKZF2_ENST00000434687.1_Silent_p.I457I|IKZF2_ENST00000421754.2_Silent_p.I383I|IKZF2_ENST00000451136.2_Silent_p.I385I|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000413091.3_3'UTR	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AGACCTTGTAGATGTCCTTCA	0.473													False	0	False	2:213872294	0	T	213872294	G	T	213872294	2	4	88	1	0	0	0	0	0	0	0	1	7665	932	33	3		3	IKZF2	2	213872294	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1256894	213872294	29327079	3306	11018											
IKZF2	22807	broad.mit.edu	37	chr2	213878658	213878658	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaatcttccataggaggtActatacaaaaccatagaaaa	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213878658A>G	ENST00000457361.1	-	7	881	c.713T>C	c.(712-714)gTa>gCa	p.V238A	IKZF2_ENST00000374319.4_Splice_Site_p.V212A|IKZF2_ENST00000374327.4_Splice_Site_p.V93A|IKZF2_ENST00000342002.2_Splice_Site_p.V244A|IKZF2_ENST00000434687.1_Splice_Site_p.V238A|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000451136.2_Splice_Site_p.V166A|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000413091.3_3'UTR	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CATAGGAGGTACTATACAAAA	0.378													False	0	False	2:213878658	0	G	213878658	A	G	213878658	5	3	88	1	0	0	0	0	0	0	1	0	7665	405	14	4	875	4	IKZF2	2	213878658	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6364	213878658	29320715	3307	11019											
IKZF2	22807	broad.mit.edu	37	chr2	213921823	213921823	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctagctttactgaatttGctgtaatttgaaaagaagaa	7	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213921823G>A	ENST00000457361.1	-	4	308	c.140C>T	c.(139-141)aCa>aTa	p.T47I	IKZF2_ENST00000374319.4_Splice_Site_p.T47I|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Splice_Site_p.T53I|IKZF2_ENST00000434687.1_Splice_Site_p.T47I|IKZF2_ENST00000421754.2_Splice_Site_p.T47I|IKZF2_ENST00000451136.2_Splice_Site_p.T47I|IKZF2_ENST00000413091.3_Splice_Site_p.T47I	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TACTGAATTTGCTGTAATTTG	0.373													False	0	True	2:213921823	0	A	213921823	G	A	213921823	5	1	88	1	0	0	0	0	0	0	1	0	7665	1333	46	2	1460	2	IKZF2	2	213921823	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43165	213921823	29277550	3308	11020											
SPAG16	79582	broad.mit.edu	37	chr2	214354799	214354799	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacatttttagactccatgAacttccagtgagctggtagg	9	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:214354799A>C	ENST00000331683.5	+	10	1150	c.1055A>C	c.(1054-1056)gAa>gCa	p.E352A	SPAG16_ENST00000374309.3_Missense_Mutation_p.E258A	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	352					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGACTCCATGAACTTCCAGTG	0.323													False	0	False	2:214354799	0	C	214354799	A	C	214354799	3	2	88	1	0	0	0	0	1	0	0	0	15060	246	9	4	1109	4	SPAG16	2	214354799	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	432976	214354799	28844574	3309	11021											
BARD1	580	broad.mit.edu	37	chr2	215610503	215610503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattactgcaagctcactgaGcattttctgttgttctgaag	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215610503G>T	ENST00000260947.4	-	8	1887	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	BARD1_ENST00000449967.2_Missense_Mutation_p.L441I	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	585	BRCT 1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTCACTGAGCATTTTCTGT	0.403									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				False	0	False	2:215610503	0	T	215610503	G	T	215610503	3	4	88	1	0	0	0	0	1	0	0	0	1316	971	34	3	596	3	BARD1	2	215610503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1255704	215610503	27588870	3310	11022											
BARD1	580	broad.mit.edu	37	chr2	215646005	215646005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttccagatcttgcagaaGcctttttagccctctcagaa	6	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215646005G>A	ENST00000260947.4	-	4	727	c.593C>T	c.(592-594)gCt>gTt	p.A198V	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.A54V	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	198					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTTGCAGAAGCCTTTTTAGC	0.388									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				False	0	False	2:215646005	0	A	215646005	G	A	215646005	3	1	88	1	0	0	0	0	1	0	0	0	1316	971	34	2	1772	2	BARD1	2	215646005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35502	215646005	27553368	3311	11023											
ABCA12	26154	broad.mit.edu	37	chr2	215815605	215815605	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaaacacagtttcttacctCtccagcaggtatcccaatgc	5	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215815605C>A	ENST00000272895.7	-	45	7069	c.6850G>T	c.(6850-6852)Gag>Tag	p.E2284*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.E1966*|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2284	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTCTTACCTCTCCAGCAGGT	0.373													False	0	False	2:215815605	0	A	215815605	C	A	215815605	4	1	88	1	0	0	0	0	0	1	0	0	30	922	32	3	973	3	ABCA12	2	215815605	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169600	215815605	27383768	3312	11024											
ABCA12	26154	broad.mit.edu	37	chr2	215815716	215815716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcaaattcagctgcacCactctcaactcttaatctct	3	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215815716C>T	ENST00000272895.7	-	45	6958	c.6739G>A	c.(6739-6741)Ggt>Agt	p.G2247S	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1929S|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2247					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCAGCTGCACCACTCTCAACT	0.378													False	0	False	2:215815716	0	T	215815716	C	T	215815716	3	4	88	1	0	0	0	0	1	0	0	0	30	594	21	2	1084	2	ABCA12	2	215815716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111	215815716	27383657	3313	11025											
ABCA12	26154	broad.mit.edu	37	chr2	215820074	215820074	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaagtacatccaggaaAatgttgcatacctgcaggtt	9	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215820074A>G	ENST00000272895.7	-	43	6464	c.6245T>C	c.(6244-6246)tTt>tCt	p.F2082S	ABCA12_ENST00000389661.4_Missense_Mutation_p.F1764S|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2082					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATCCAGGAAAATGTTGCATA	0.438													False	0	True	2:215820074	0	G	215820074	A	G	215820074	3	3	88	1	0	0	0	0	1	0	0	0	30	14	1	4	1586	4	ABCA12	2	215820074	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4358	215820074	27379299	3314	11026											
ABCA12	26154	broad.mit.edu	37	chr2	215838750	215838750	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttccatttttccagactgtCtttgtttaaacactgtctgc	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215838750C>A	ENST00000272895.7	-	36	5704	c.5485G>T	c.(5485-5487)Gac>Tac	p.D1829Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1511Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1829					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCAGACTGTCTTTGTTTAAA	0.373													False	0	True	2:215838750	0	A	215838750	C	A	215838750	3	1	88	1	0	0	0	0	1	0	0	0	30	913	32	3	2374	3	ABCA12	2	215838750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18676	215838750	27360623	3315	11027											
ABCA12	26154	broad.mit.edu	37	chr2	215845305	215845305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccctgctccaggaaggCgatgcggtcactcagcactt	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215845305C>T	ENST00000272895.7	-	31	4861	c.4642G>A	c.(4642-4644)Gcc>Acc	p.A1548T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A1230T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1548	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCCAGGAAGGCGATGCGGTCA	0.512													False	0	False	2:215845305	0	T	215845305	C	T	215845305	3	4	88	1	0	0	0	0	1	0	0	0	30	768	27	1	3237	1	ABCA12	2	215845305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6555	215845305	27354068	3316	11028											
ABCA12	26154	broad.mit.edu	37	chr2	215847042	215847042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatagataacttcctcttcAtgcctcctgacagtgttcca	5	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215847042A>G	ENST00000272895.7	-	30	4667	c.4448T>C	c.(4447-4449)aTg>aCg	p.M1483T	ABCA12_ENST00000389661.4_Missense_Mutation_p.M1165T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1483	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTCCTCTTCATGCCTCCTGA	0.383													False	0	False	2:215847042	0	G	215847042	A	G	215847042	3	3	88	1	0	0	0	0	1	0	0	0	30	217	8	4	3435	4	ABCA12	2	215847042	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1737	215847042	27352331	3317	11029											
ABCA12	26154	broad.mit.edu	37	chr2	215862523	215862523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaagagaataagagacacTggttaggaagctgtaaaaca	12	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215862523T>G	ENST00000272895.7	-	23	3409	c.3190A>C	c.(3190-3192)Agt>Cgt	p.S1064R	ABCA12_ENST00000389661.4_Missense_Mutation_p.S746R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1064					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAGAGACACTGGTTAGGAAG	0.363													False	0	False	2:215862523	0	G	215862523	T	G	215862523	3	3	88	1	0	0	0	0	1	0	0	0	30	1580	55	4	4721	4	ABCA12	2	215862523	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15481	215862523	27336850	3318	11030											
ABCA12	26154	broad.mit.edu	37	chr2	215876354	215876354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccttgtggtgtgttcattCggttgcttctgtacattgcc	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215876354C>T	ENST00000272895.7	-	17	2360	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.R396Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	714					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTGTTCATTCGGTTGCTTCT	0.403													False	0	False	2:215876354	0	T	215876354	C	T	215876354	3	4	88	1	0	0	0	0	1	0	0	0	30	884	31	1	5794	1	ABCA12	2	215876354	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13831	215876354	27323019	3319	11031											
ABCA12	26154	broad.mit.edu	37	chr2	215928871	215928871	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtgtctttgcatttagagtCtgtgtcacagagtagggtct	12	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215928871C>A	ENST00000272895.7	-	3	454	c.235G>T	c.(235-237)Gac>Tac	p.D79Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	79					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATTTAGAGTCTGTGTCACAG	0.433													False	0	False	2:215928871	0	A	215928871	C	A	215928871	3	1	88	1	0	0	0	0	1	0	0	0	30	913	32	3	7787	3	ABCA12	2	215928871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52517	215928871	27270502	3320	11032											
ATIC	471	broad.mit.edu	37	chr2	216191624	216191624	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaaggcgtatctcagaTgcccttgagatatggaatga	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216191624T>C	ENST00000435675.1	+	6	999	c.608T>C	c.(607-609)aTg>aCg	p.M203T	ATIC_ENST00000540518.1_Missense_Mutation_p.M145T|ATIC_ENST00000236959.9_Missense_Mutation_p.M204T			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	204					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GTATCTCAGATGCCCTTGAGA	0.473			T	ALK	ALCL								False	0	False	2:216191624	0	C	216191624	T	C	216191624	3	2	88	1	0	0	0	0	1	0	0	0	1109	1464	51	4	637	4	ATIC	2	216191624	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	262753	216191624	27007749	3321	11033											
ATIC	471	broad.mit.edu	37	chr2	216211553	216211553	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagataaggcaaactaTtggtggcttagacaccatcc	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216211553T>G	ENST00000435675.1	+	13	1780	c.1389T>G	c.(1387-1389)taT>taG	p.Y463*	ATIC_ENST00000540518.1_Nonsense_Mutation_p.Y405*|ATIC_ENST00000236959.9_Nonsense_Mutation_p.Y464*			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	464					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	AGGCAAACTATTGGTGGCTTA	0.453			T	ALK	ALCL								False	0	False	2:216211553	0	G	216211553	T	G	216211553	4	3	88	1	0	0	0	0	0	1	0	0	1109	1500	52	4	1446	4	ATIC	2	216211553	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19929	216211553	26987820	3322	11034											
FN1	2335	broad.mit.edu	37	chr2	216240026	216240026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcatacttgatgatgtagCcggtaatcctggcacgtggc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216240026C>T	ENST00000354785.4	-	38	6437	c.6068G>A	c.(6067-6069)gGc>gAc	p.G2023D	FN1_ENST00000446046.1_Missense_Mutation_p.G1932D|FN1_ENST00000443816.1_Missense_Mutation_p.G1842D|FN1_ENST00000346544.3_Missense_Mutation_p.G1932D|FN1_ENST00000356005.4_Missense_Mutation_p.G1842D|FN1_ENST00000323926.6_Missense_Mutation_p.G2023D|FN1_ENST00000432072.2_Missense_Mutation_p.G1933D|FN1_ENST00000345488.5_Missense_Mutation_p.G1932D|FN1_ENST00000357009.2_Missense_Mutation_p.G1932D|FN1_ENST00000359671.1_Missense_Mutation_p.G1932D|FN1_ENST00000357867.4_Missense_Mutation_p.G1842D|FN1_ENST00000336916.4_Missense_Mutation_p.G1932D|FN1_ENST00000421182.1_Missense_Mutation_p.G1842D			P02751	FINC_HUMAN	fibronectin 1	1932	Connecting strand 3 (CS-3) (V region).			V -> A (in Ref. 4; CAD97965/CAD97964).	acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATGATGTAGCCGGTAATCCT	0.552													False	0	False	2:216240026	0	T	216240026	C	T	216240026	3	4	88	1	0	0	0	0	1	0	0	0	6002	739	26	2	1401	2	FN1	2	216240026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28473	216240026	26959347	3323	11035											
FN1	2335	broad.mit.edu	37	chr2	216249593	216249593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctgtacctgtctctccGtaagtgatcctgtaatatct	7	11	2	1	rs147150819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216249593G>A	ENST00000354785.4	-	29	5088	c.4719C>T	c.(4717-4719)taC>taT	p.Y1573Y	FN1_ENST00000446046.1_Silent_p.Y1482Y|FN1_ENST00000443816.1_Silent_p.Y1482Y|FN1_ENST00000346544.3_Silent_p.Y1482Y|FN1_ENST00000356005.4_Silent_p.Y1482Y|FN1_ENST00000323926.6_Silent_p.Y1573Y|FN1_ENST00000432072.2_Silent_p.Y1573Y|FN1_ENST00000345488.5_Silent_p.Y1482Y|FN1_ENST00000357009.2_Silent_p.Y1482Y|FN1_ENST00000359671.1_Silent_p.Y1482Y|FN1_ENST00000357867.4_Silent_p.Y1482Y|FN1_ENST00000336916.4_Silent_p.Y1482Y|FN1_ENST00000421182.1_Silent_p.Y1482Y			P02751	FINC_HUMAN	fibronectin 1	1576	Fibronectin type-III 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCTCTCCGTAAGTGATCC	0.453													False	0	False	2:216249593	0	A	216249593	G	A	216249593	2	1	88	1	0	0	0	0	0	0	0	1	6002	1140	40	1		1	FN1	2	216249593	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9567	216249593	26949780	3324	11036											
FN1	2335	broad.mit.edu	37	chr2	216251446	216251446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatcaataagggactttcCtctctgccattaagagcaac	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216251446C>T	ENST00000354785.4	-	28	4947	c.4578G>A	c.(4576-4578)gaG>gaA	p.E1526E	FN1_ENST00000446046.1_Silent_p.E1435E|FN1_ENST00000443816.1_Silent_p.E1435E|FN1_ENST00000346544.3_Silent_p.E1435E|FN1_ENST00000356005.4_Silent_p.E1435E|FN1_ENST00000323926.6_Silent_p.E1526E|FN1_ENST00000432072.2_Silent_p.E1526E|FN1_ENST00000345488.5_Silent_p.E1435E|FN1_ENST00000357009.2_Silent_p.E1435E|FN1_ENST00000359671.1_Silent_p.E1435E|FN1_ENST00000357867.4_Silent_p.E1435E|FN1_ENST00000336916.4_Silent_p.E1435E|FN1_ENST00000421182.1_Silent_p.E1435E			P02751	FINC_HUMAN	fibronectin 1	1525	Cell-attachment.|Fibronectin type-III 10.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGACTTTCCTCTCTGCCAT	0.468													False	0	True	2:216251446	0	T	216251446	C	T	216251446	2	4	88	1	0	0	0	0	0	0	0	1	6002	680	24	2		2	FN1	2	216251446	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1853	216251446	26947927	3325	11037											
FN1	2335	broad.mit.edu	37	chr2	216257885	216257885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcaggccgatgcttgaatCggttatatcaacaaagctta	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216257885C>T	ENST00000354785.4	-	25	4207	c.3838G>A	c.(3838-3840)Gat>Aat	p.D1280N	FN1_ENST00000446046.1_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000356005.4_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.D1280N|FN1_ENST00000432072.2_Missense_Mutation_p.D1280N|FN1_ENST00000345488.5_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000359671.1_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000336916.4_Intron|FN1_ENST00000421182.1_Intron			P02751	FINC_HUMAN	fibronectin 1	1280	Cell-attachment.|Fibronectin type-III 8.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.D1280N(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGCTTGAATCGGTTATATCA	0.468													False	0	False	2:216257885	0	T	216257885	C	T	216257885	3	4	88	1	0	0	0	0	1	0	0	0	6002	884	31	1	3683	1	FN1	2	216257885	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6439	216257885	26941488	3326	11038											
FN1	2335	broad.mit.edu	37	chr2	216292951	216292951	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctcacacttccactctcCtcggccgttgcctgtgcaga	7	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216292951C>A	ENST00000354785.4	-	6	1165	c.796G>T	c.(796-798)Gga>Tga	p.G266*	FN1_ENST00000446046.1_Nonsense_Mutation_p.G266*|FN1_ENST00000443816.1_Nonsense_Mutation_p.G266*|FN1_ENST00000426059.1_Nonsense_Mutation_p.G266*|FN1_ENST00000346544.3_Nonsense_Mutation_p.G266*|FN1_ENST00000356005.4_Nonsense_Mutation_p.G266*|FN1_ENST00000323926.6_Nonsense_Mutation_p.G266*|FN1_ENST00000432072.2_Nonsense_Mutation_p.G266*|FN1_ENST00000345488.5_Nonsense_Mutation_p.G266*|FN1_ENST00000357009.2_Nonsense_Mutation_p.G266*|FN1_ENST00000359671.1_Nonsense_Mutation_p.G266*|FN1_ENST00000357867.4_Nonsense_Mutation_p.G266*|FN1_ENST00000336916.4_Nonsense_Mutation_p.G266*|FN1_ENST00000421182.1_Nonsense_Mutation_p.G266*			P02751	FINC_HUMAN	fibronectin 1	266	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCCACTCTCCTCGGCCGTTG	0.552													False	0	False	2:216292951	0	A	216292951	C	A	216292951	4	1	88	1	0	0	0	0	0	1	0	0	6002	690	24	3	6834	3	FN1	2	216292951	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35066	216292951	26906422	3327	11039											
XRCC5	7520	broad.mit.edu	37	chr2	216977824	216977824	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatttgaacaagcaaagaAggtgataaccatgtttgtac	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216977824A>G	ENST00000392133.3	+	4	568	c.107A>G	c.(106-108)aAg>aGg	p.K36R	XRCC5_ENST00000392132.2_Missense_Mutation_p.K36R			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	36					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CAAGCAAAGAAGGTGATAACC	0.438								Non-homologous end-joining					False	0	False	2:216977824	0	G	216977824	A	G	216977824	3	3	88	1	0	0	0	0	1	0	0	0	17540	72	3	4	113	4	XRCC5	2	216977824	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	684873	216977824	26221549	3328	11040											
XRCC5	7520	broad.mit.edu	37	chr2	217002842	217002842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtgcagctgcctttcatgGaagacttgcggcaatacatg	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217002842G>A	ENST00000392133.3	+	14	1743	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	XRCC5_ENST00000392132.2_Missense_Mutation_p.E428K|XRCC5_ENST00000471649.1_3'UTR			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	428	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GCCTTTCATGGAAGACTTGCG	0.363								Non-homologous end-joining					False	0	False	2:217002842	0	A	217002842	G	A	217002842	3	1	88	1	0	0	0	0	1	0	0	0	17540	1175	41	2	1328	2	XRCC5	2	217002842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25018	217002842	26196531	3329	11041											
MARCH4	57574	broad.mit.edu	37	chr2	217234861	217234861	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcattgaagagcatgcggcaGcggcacttgaggagaccctg	14	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217234861G>T	ENST00000273067.4	-	1	1889	c.123C>A	c.(121-123)cgC>cgA	p.R41R		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	41						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCATGCGGCAGCGGCACTTGA	0.652													False	0	True	2:217234861	0	T	217234861	G	T	217234861	2	4	88	1	0	0	0	0	0	0	0	1	9370	958	34	3		3	MARCH4	2	217234861	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	232019	217234861	25964512	3330	11042											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279897	217279897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctgagatcaggttcaCaccctttgctaacccaactc	5	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217279897C>T	ENST00000357276.4	+	3	800	c.470C>T	c.(469-471)aCa>aTa	p.T157I	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.T157I	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	157					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ATCAGGTTCACACCCTTTGCT	0.507									Schimke Immuno-Osseous Dysplasia				False	0	False	2:217279897	0	T	217279897	C	T	217279897	3	4	88	1	0	0	0	0	1	0	0	0	14853	478	17	2	472	2	SMARCAL1	2	217279897	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45036	217279897	25919476	3331	11043											
SMARCAL1	50485	broad.mit.edu	37	chr2	217285059	217285059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccacggtcaacctgcaGcctctggaatgggcctatgg	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217285059G>A	ENST00000357276.4	+	5	1230	c.900G>A	c.(898-900)caG>caA	p.Q300Q	SMARCAL1_ENST00000358207.5_Silent_p.Q300Q	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	300	HARP 1.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCAACCTGCAGCCTCTGGAAT	0.547									Schimke Immuno-Osseous Dysplasia				False	0	False	2:217285059	0	A	217285059	G	A	217285059	2	1	88	1	0	0	0	0	0	0	0	1	14853	962	34	2		2	SMARCAL1	2	217285059	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5162	217285059	25914314	3332	11044											
SMARCAL1	50485	broad.mit.edu	37	chr2	217285073	217285073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagcctctggaatgggCctatggcagcagcgagtcac	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217285073C>T	ENST00000357276.4	+	5	1244	c.914C>T	c.(913-915)gCc>gTc	p.A305V	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.A305V	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	305					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTGGAATGGGCCTATGGCAGC	0.557									Schimke Immuno-Osseous Dysplasia				False	0	True	2:217285073	0	T	217285073	C	T	217285073	3	4	88	1	0	0	0	0	1	0	0	0	14853	739	26	2	924	2	SMARCAL1	2	217285073	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	217285073	25914300	3333	11045											
SMARCAL1	50485	broad.mit.edu	37	chr2	217315692	217315692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagctgcctgccaagcagCgcaagatagtggtgattgcc	12	13	0	2	rs148893764		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217315692C>T	ENST00000357276.4	+	12	2305	c.1975C>T	c.(1975-1977)Cgc>Tgc	p.R659C	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R659C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	659					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCAAGCAGCGCAAGATAGT	0.587									Schimke Immuno-Osseous Dysplasia				False	0	False	2:217315692	0	T	217315692	C	T	217315692	3	4	88	1	0	0	0	0	1	0	0	0	14853	768	27	1	2013	1	SMARCAL1	2	217315692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30619	217315692	25883681	3334	11046											
SMARCAL1	50485	broad.mit.edu	37	chr2	217341855	217341855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatccaggctgaggaccgCgtgcaccgcattggacagac	13	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217341855C>T	ENST00000357276.4	+	16	2781	c.2451C>T	c.(2449-2451)cgC>cgT	p.R817R	SMARCAL1_ENST00000358207.5_Silent_p.R817R	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	817	Helicase C-terminal.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTGAGGACCGCGTGCACCGCA	0.567									Schimke Immuno-Osseous Dysplasia				False	0	False	2:217341855	0	T	217341855	C	T	217341855	2	4	88	1	0	0	0	0	0	0	0	1	14853	755	27	1		1	SMARCAL1	2	217341855	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26163	217341855	25857518	3335	11047											
IGFBP2	3485	broad.mit.edu	37	chr2	217526595	217526595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagactccctgccaacaGgaactggaccaggtcctgga	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217526595G>A	ENST00000233809.4	+	3	816	c.687G>A	c.(685-687)caG>caA	p.Q229Q	IGFBP2_ENST00000456764.1_Silent_p.Q85Q	NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	229	Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CCTGCCAACAGGAACTGGACC	0.647													False	0	False	2:217526595	0	A	217526595	G	A	217526595	2	1	88	1	0	0	0	0	0	0	0	1	7629	991	35	2		2	IGFBP2	2	217526595	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184740	217526595	25672778	3336	11048											
IGFBP5	3488	broad.mit.edu	37	chr2	217543756	217543756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggggagtaggtctcctcGgccatctcagaggtggtggg	18	8	2	1	rs146074282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217543756G>A	ENST00000233813.4	-	2	1133	c.384C>T	c.(382-384)gcC>gcT	p.A128A		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	128					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTCTCCTCGGCCATCTCAG	0.632													False	0	False	2:217543756	0	A	217543756	G	A	217543756	2	1	88	1	0	0	0	0	0	0	0	1	7632	1103	39	1		1	IGFBP5	2	217543756	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17161	217543756	25655617	3337	11049											
IGFBP5	3488	broad.mit.edu	37	chr2	217559274	217559274	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaggcagcgcagcccctgGgcgcagcgctcggtgtagac	18	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217559274G>T	ENST00000233813.4	-	1	974	c.225C>A	c.(223-225)gcC>gcA	p.A75A	AC007563.5_ENST00000447289.1_RNA	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	75	IGFBP N-terminal.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCCCCTGGGCGCAGCGCT	0.726													False	0	True	2:217559274	0	T	217559274	G	T	217559274	2	4	88	1	0	0	0	0	0	0	0	1	7632	1219	43	3		3	IGFBP5	2	217559274	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15518	217559274	25640099	3338	11050											
TNS1	7145	broad.mit.edu	37	chr2	218713723	218713723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggacgtgtggcattaacaGccccggtgctgccgtgcagg	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218713723G>A	ENST00000171887.4	-	17	1594	c.1142C>T	c.(1141-1143)gCt>gTt	p.A381V	TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Missense_Mutation_p.A381V|TNS1_ENST00000430930.1_Missense_Mutation_p.A381V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	381						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGCATTAACAGCCCCGGTGCT	0.602													False	0	True	2:218713723	0	A	218713723	G	A	218713723	3	1	88	1	0	0	0	0	1	0	0	0	16425	971	34	2	4133	2	TNS1	2	218713723	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1154449	218713723	24485650	3339	11051											
TNS1	7145	broad.mit.edu	37	chr2	218749800	218749800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcccaaagacaacccCcaggtcatggatggcacagg	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218749800C>T	ENST00000171887.4	-	14	1281	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	TNS1_ENST00000310858.6_Missense_Mutation_p.G308R|TNS1_ENST00000419504.1_Missense_Mutation_p.G277R|TNS1_ENST00000430930.1_Missense_Mutation_p.G277R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	277	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AAGACAACCCCCAGGTCATGG	0.587													False	0	True	2:218749800	0	T	218749800	C	T	218749800	3	4	88	1	0	0	0	0	1	0	0	0	16425	623	22	2	4458	2	TNS1	2	218749800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36077	218749800	24449573	3340	11052											
TNS1	7145	broad.mit.edu	37	chr2	218757686	218757686	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttacctggcagaaatgttgCtgtagtgcatgtaagccgcg	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218757686C>A	ENST00000171887.4	-	9	844	c.392G>T	c.(391-393)aGc>aTc	p.S131I	TNS1_ENST00000310858.6_Missense_Mutation_p.S162I|TNS1_ENST00000419504.1_Missense_Mutation_p.S131I|TNS1_ENST00000430930.1_Missense_Mutation_p.S131I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	131	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGAAATGTTGCTGTAGTGCAT	0.542													False	0	False	2:218757686	0	A	218757686	C	A	218757686	3	1	88	1	0	0	0	0	1	0	0	0	16425	797	28	3	4915	3	TNS1	2	218757686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7886	218757686	24441687	3341	11053											
CXCR2	3579	broad.mit.edu	37	chr2	219000157	219000157	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaactggcggatgctgttAcggatcctgccccagtcctt	11	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219000157A>G	ENST00000318507.2	+	3	1060	c.633A>G	c.(631-633)ttA>ttG	p.L211L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	211					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GGATGCTGTTACGGATCCTGC	0.537													False	0	False	2:219000157	0	G	219000157	A	G	219000157	2	3	88	1	0	0	0	0	0	0	0	1	4116	388	14	4		4	CXCR2	2	219000157	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	242471	219000157	24199216	3342	11054											
CXCR1	3577	broad.mit.edu	37	chr2	219029240	219029240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcttctgccccatgtggGccttaaacagtgtacgcagg	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219029240G>A	ENST00000295683.2	-	2	815	c.695C>T	c.(694-696)gCc>gTc	p.A232V		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	232					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						CCCCATGTGGGCCTTAAACAG	0.562													False	0	True	2:219029240	0	A	219029240	G	A	219029240	3	1	88	1	0	0	0	0	1	0	0	0	4115	1203	42	2	361	2	CXCR1	2	219029240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29083	219029240	24170133	3343	11055											
CXCR1	3577	broad.mit.edu	37	chr2	219029293	219029293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaacagcatgacaaacagCggcacgatgaagccaaaggt	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219029293C>T	ENST00000295683.2	-	2	762	c.642G>A	c.(640-642)ccG>ccA	p.P214P		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	214					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TGACAAACAGCGGCACGATGA	0.527													False	0	False	2:219029293	0	T	219029293	C	T	219029293	2	4	88	1	0	0	0	0	0	0	0	1	4115	755	27	1		1	CXCR1	2	219029293	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53	219029293	24170080	3344	11056											
ARPC2	10109	broad.mit.edu	37	chr2	219099092	219099092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagttattaaagagggtgtaCgggagtttcttggtaaatcc	12	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219099092C>T	ENST00000295685.10	+	4	501	c.240C>T	c.(238-240)taC>taT	p.Y80Y	ARPC2_ENST00000315717.5_Silent_p.Y80Y	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	80					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		AGAGGGTGTACGGGAGTTTCT	0.328													False	0	True	2:219099092	0	T	219099092	C	T	219099092	2	4	88	1	0	0	0	0	0	0	0	1	975	547	19	1		1	ARPC2	2	219099092	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69799	219099092	24100281	3345	11057											
ARPC2	10109	broad.mit.edu	37	chr2	219103454	219103454	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggattccattgtgcatcaAgctggcatgttgaagcgaaa	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219103454A>C	ENST00000295685.10	+	5	597	c.336A>C	c.(334-336)caA>caC	p.Q112H	ARPC2_ENST00000315717.5_Missense_Mutation_p.Q112H|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	112					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTGTGCATCAAGCTGGCATGT	0.403													False	0	False	2:219103454	0	C	219103454	A	C	219103454	3	2	88	1	0	0	0	0	1	0	0	0	975	69	3	4	354	4	ARPC2	2	219103454	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4362	219103454	24095919	3346	11058											
VIL1	7429	broad.mit.edu	37	chr2	219295496	219295496	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcacacaggtggaggtgCagaatgatggggctgagtcg	17	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219295496C>T	ENST00000248444.5	+	10	1085	c.997C>T	c.(997-999)Cag>Tag	p.Q333*	VIL1_ENST00000392114.2_Nonsense_Mutation_p.Q22*|VIL1_ENST00000440053.1_Nonsense_Mutation_p.Q333*	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	333	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGAGGTGCAGAATGATGG	0.577													False	0	False	2:219295496	0	T	219295496	C	T	219295496	4	4	88	1	0	0	0	0	0	1	0	0	17248	711	25	2	1031	2	VIL1	2	219295496	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192042	219295496	23903877	3347	11059											
VIL1	7429	broad.mit.edu	37	chr2	219295631	219295631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgggggcagtgagggagCcaggatccaggagctgggcc	21	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219295631C>T	ENST00000440053.1	+	9	1146	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000248444.5_Intron			P09327	VILI_HUMAN	villin 1	0	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTGAGGGAGCCAGGATCCAG	0.632													False	0	False	2:219295631	0	T	219295631	C	T	219295631	3	4	88	1	0	0	0	0	1	0	0	0	17248	754	26	2		2	VIL1	2	219295631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135	219295631	23903742	3348	11060											
USP37	57695	broad.mit.edu	37	chr2	219374752	219374752	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggggcactcttggtttattCcagccagtgtaatcctggtt	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219374752C>T	ENST00000258399.3	-	11	1387	c.975G>A	c.(973-975)tgG>tgA	p.W325*	USP37_ENST00000418019.1_Nonsense_Mutation_p.W325*|USP37_ENST00000415516.1_Nonsense_Mutation_p.W253*|USP37_ENST00000454775.1_Nonsense_Mutation_p.W325*	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	325					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTGGTTTATTCCAGCCAGTGT	0.423													False	0	True	2:219374752	0	T	219374752	C	T	219374752	4	4	88	1	0	0	0	0	0	1	0	0	17152	856	30	2	2028	2	USP37	2	219374752	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79121	219374752	23824621	3349	11061											
PLCD4	84812	broad.mit.edu	37	chr2	219492850	219492850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcctccccatctatcagGatatgactcaacccctgaac	5	17	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219492850G>A	ENST00000450993.2	+	7	1210	c.871G>A	c.(871-873)Gat>Aat	p.D291N	PLCD4_ENST00000417849.1_Missense_Mutation_p.D291N|PLCD4_ENST00000432688.1_Missense_Mutation_p.D291N	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	291	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATCTATCAGGATATGACTCA	0.522													False	0	False	2:219492850	0	A	219492850	G	A	219492850	3	1	88	1	0	0	0	0	1	0	0	0	12102	1174	41	2	893	2	PLCD4	2	219492850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118098	219492850	23706523	3350	11062											
PLCD4	84812	broad.mit.edu	37	chr2	219494329	219494329	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtttaccacggacacaccctGacctcccgcatcctgttcaa	6	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219494329G>A	ENST00000450993.2	+	8	1401	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	PLCD4_ENST00000417849.1_Silent_p.L354L|PLCD4_ENST00000432688.1_Silent_p.L354L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	354	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GACACACCCTGACCTCCCGCA	0.602													False	0	False	2:219494329	0	A	219494329	G	A	219494329	2	1	88	1	0	0	0	0	0	0	0	1	12102	1277	45	2		2	PLCD4	2	219494329	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1479	219494329	23705044	3351	11063											
PLCD4	84812	broad.mit.edu	37	chr2	219497008	219497008	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcctgagccccaggagcaGaaccttcagaataaggacaa	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219497008G>A	ENST00000450993.2	+	10	1761	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	PLCD4_ENST00000417849.1_Silent_p.Q474Q|PLCD4_ENST00000432688.1_Silent_p.Q474Q	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	474					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCAGGAGCAGAACCTTCAGA	0.478													False	0	False	2:219497008	0	A	219497008	G	A	219497008	2	1	88	1	0	0	0	0	0	0	0	1	12102	933	33	2		2	PLCD4	2	219497008	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2679	219497008	23702365	3352	11064											
PLCD4	84812	broad.mit.edu	37	chr2	219498467	219498467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaaaccaaggccaagcGcctcatcaaggaggctggtc	11	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219498467G>A	ENST00000450993.2	+	11	1928	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	PLCD4_ENST00000417849.1_Missense_Mutation_p.R530H|RP11-548H3.1_ENST00000607946.1_RNA|PLCD4_ENST00000432688.1_Missense_Mutation_p.R562H	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	530	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAGGCCAAGCGCCTCATCAAG	0.498													False	0	False	2:219498467	0	A	219498467	G	A	219498467	3	1	88	1	0	0	0	0	1	0	0	0	12102	1087	38	1	1627	1	PLCD4	2	219498467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1459	219498467	23700906	3353	11065											
ZNF142	7701	broad.mit.edu	37	chr2	219506771	219506771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagacgagagggatcagCacaggcataggggcagaggt	17	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219506771C>T	ENST00000411696.2	-	7	5247	c.4468G>A	c.(4468-4470)Gct>Act	p.A1490T	ZNF142_ENST00000449707.1_Missense_Mutation_p.A1490T			P52746	ZN142_HUMAN	zinc finger protein 142	1490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGGGATCAGCACAGGCATAG	0.532													False	0	False	2:219506771	0	T	219506771	C	T	219506771	3	4	88	1	0	0	0	0	1	0	0	0	17814	710	25	2	607	2	ZNF142	2	219506771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8304	219506771	23692602	3354	11066											
ZNF142	7701	broad.mit.edu	37	chr2	219513829	219513829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcttgaggtgctcctttaGggcctggctgaggcggaatt	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219513829G>T	ENST00000411696.2	-	5	1581	c.802C>A	c.(802-804)Cta>Ata	p.L268I	ZNF142_ENST00000449707.1_Missense_Mutation_p.L268I			P52746	ZN142_HUMAN	zinc finger protein 142	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCTCCTTTAGGGCCTGGCTG	0.582											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	2:219513829	0	T	219513829	G	T	219513829	3	4	88	1	0	0	0	0	1	0	0	0	17814	991	35	3	4281	3	ZNF142	2	219513829	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7058	219513829	23685544	3355	11067											
BCS1L	617	broad.mit.edu	37	chr2	219525923	219525923	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctggctcacccgccacagTacccgtactcagcacctcag	8	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219525923T>C	ENST00000431802.1	+	2	912	c.213T>C	c.(211-213)agT>agC	p.S71S	BCS1L_ENST00000392109.1_Silent_p.S71S|BCS1L_ENST00000392111.2_Silent_p.S71S|BCS1L_ENST00000439945.1_Silent_p.S71S|BCS1L_ENST00000359273.3_Silent_p.S71S|BCS1L_ENST00000412366.1_Silent_p.S71S|BCS1L_ENST00000392110.2_Silent_p.S71S			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	71					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCCACAGTACCCGTACTC	0.552													False	0	False	2:219525923	0	C	219525923	T	C	219525923	2	2	88	1	0	0	0	0	0	0	0	1	1393	1635	57	4		4	BCS1L	2	219525923	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12094	219525923	23673450	3356	11068											
BCS1L	617	broad.mit.edu	37	chr2	219525943	219525943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccgtactcagcacctcaGtgtcgagacttcgtaccttc	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219525943G>A	ENST00000431802.1	+	2	932	c.233G>A	c.(232-234)aGt>aAt	p.S78N	BCS1L_ENST00000392109.1_Missense_Mutation_p.S78N|BCS1L_ENST00000392111.2_Missense_Mutation_p.S78N|BCS1L_ENST00000439945.1_Missense_Mutation_p.S78N|BCS1L_ENST00000359273.3_Missense_Mutation_p.S78N|BCS1L_ENST00000412366.1_Missense_Mutation_p.S78N|BCS1L_ENST00000392110.2_Missense_Mutation_p.S78N			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	78			S -> G (in GRACILE; dbSNP:rs28937590).		mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCTCAGTGTCGAGACT	0.532													False	0	False	2:219525943	0	A	219525943	G	A	219525943	3	1	88	1	0	0	0	0	1	0	0	0	1393	1029	36	2	235	2	BCS1L	2	219525943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	219525943	23673430	3357	11069											
BCS1L	617	broad.mit.edu	37	chr2	219526526	219526526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagggaagaccgtgatgTacacagctgtgggctctgaa	15	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219526526T>C	ENST00000431802.1	+	4	1204	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	BCS1L_ENST00000392109.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000392111.2_Missense_Mutation_p.Y169H|BCS1L_ENST00000439945.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000359273.3_Missense_Mutation_p.Y169H|BCS1L_ENST00000412366.1_Missense_Mutation_p.Y169H|BCS1L_ENST00000392110.2_Missense_Mutation_p.Y169H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	169					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCGTGATGTACACAGCTGT	0.527													False	0	False	2:219526526	0	C	219526526	T	C	219526526	3	2	88	1	0	0	0	0	1	0	0	0	1393	1638	57	4	515	4	BCS1L	2	219526526	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	583	219526526	23672847	3358	11070											
BCS1L	617	broad.mit.edu	37	chr2	219527252	219527252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacagccctggctggggaaCtggagcacagcatctgcctg	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219527252C>T	ENST00000431802.1	+	6	1438	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	BCS1L_ENST00000392109.1_Silent_p.L247L|BCS1L_ENST00000392111.2_Silent_p.L247L|BCS1L_ENST00000439945.1_Silent_p.L247L|BCS1L_ENST00000359273.3_Silent_p.L247L|BCS1L_ENST00000412366.1_Silent_p.L247L|BCS1L_ENST00000392110.2_Silent_p.L247L|BCS1L_ENST00000465706.1_Intron			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	247					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGGGGAACTGGAGCACAG	0.627													False	0	False	2:219527252	0	T	219527252	C	T	219527252	2	4	88	1	0	0	0	0	0	0	0	1	1393	564	20	2		2	BCS1L	2	219527252	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	726	219527252	23672121	3359	11071											
RNF25	64320	broad.mit.edu	37	chr2	219528785	219528785	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggaagaaccgggtgtccgGcctttagagcgctcccagcg	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219528785G>T	ENST00000295704.2	-	10	1715	c.1275C>A	c.(1273-1275)ggC>ggA	p.G425G		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	425					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGGTGTCCGGCCTTTAGAGC	0.652													False	0	False	2:219528785	0	T	219528785	G	T	219528785	2	4	88	1	0	0	0	0	0	0	0	1	13564	1190	42	3		3	RNF25	2	219528785	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1533	219528785	23670588	3360	11072											
STK36	27148	broad.mit.edu	37	chr2	219538400	219538400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcagagaaggagctgaGgaatttgcaacgagagattg	15	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219538400G>T	ENST00000295709.3	+	3	416	c.137G>T	c.(136-138)aGg>aTg	p.R46M	STK36_ENST00000392105.3_Missense_Mutation_p.R46M|STK36_ENST00000440309.1_Missense_Mutation_p.R46M|STK36_ENST00000392106.2_Missense_Mutation_p.R46M	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	46	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AAGGAGCTGAGGAATTTGCAA	0.463													False	0	False	2:219538400	0	T	219538400	G	T	219538400	3	4	88	1	0	0	0	0	1	0	0	0	15384	1000	35	3	143	3	STK36	2	219538400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9615	219538400	23660973	3361	11073											
TTLL4	9654	broad.mit.edu	37	chr2	219602420	219602420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcctcagcaggaacacaGcactatagtattggcctccg	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219602420G>A	ENST00000392102.1	+	3	361	c.21G>A	c.(19-21)caG>caA	p.Q7Q	TTLL4_ENST00000258398.4_Silent_p.Q7Q|TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Silent_p.Q7Q	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	7					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CAGGAACACAGCACTATAGTA	0.587													False	0	False	2:219602420	0	A	219602420	G	A	219602420	2	1	88	1	0	0	0	0	0	0	0	1	16813	962	34	2		2	TTLL4	2	219602420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64020	219602420	23596953	3362	11074											
TTLL4	9654	broad.mit.edu	37	chr2	219602698	219602698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtcattgcaggccacaGcagttcctgttacctacact	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219602698G>A	ENST00000392102.1	+	3	639	c.299G>A	c.(298-300)aGc>aAc	p.S100N	TTLL4_ENST00000258398.4_Missense_Mutation_p.S100N|TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000442769.1_Missense_Mutation_p.S100N	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	100					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GCAGGCCACAGCAGTTCCTGT	0.562													False	0	False	2:219602698	0	A	219602698	G	A	219602698	3	1	88	1	0	0	0	0	1	0	0	0	16813	971	34	2	301	2	TTLL4	2	219602698	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	219602698	23596675	3363	11075											
CYP27A1	1593	broad.mit.edu	37	chr2	219679736	219679736	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaagtgggcctgcagttcCtgcagagacagtgctgagct	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219679736C>A	ENST00000258415.4	+	9	2006	c.1579C>A	c.(1579-1581)Ctg>Atg	p.L527M		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	527					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CCTGCAGTTCCTGCAGAGACA	0.592													False	0	False	2:219679736	0	A	219679736	C	A	219679736	3	1	88	1	0	0	0	0	1	0	0	0	4183	680	24	3	1613	3	CYP27A1	2	219679736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77038	219679736	23519637	3364	11076											
PRKAG3	53632	broad.mit.edu	37	chr2	219691782	219691782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaaatcttggatagtgCggtagaggaaggagggccgg	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219691782C>T	ENST00000439262.2	-	10	1057	c.962G>A	c.(961-963)cGc>cAc	p.R321H	PRKAG3_ENST00000545803.1_Missense_Mutation_p.R162H|PRKAG3_ENST00000529249.1_Missense_Mutation_p.R346H|PRKAG3_ENST00000392098.3_Missense_Mutation_p.A331T	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	346	CBS 2.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGATAGTGCGGTAGAGGAA	0.597													False	0	False	2:219691782	0	T	219691782	C	T	219691782	3	4	88	1	0	0	0	0	1	0	0	0	12578	768	27	1	448	1	PRKAG3	2	219691782	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12046	219691782	23507591	3365	11077											
PRKAG3	53632	broad.mit.edu	37	chr2	219692564	219692564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccccactcacccctccagGtctcaatcttatgttgttca	4	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219692564G>A	ENST00000439262.2	-	7	832	c.737C>T	c.(736-738)aCc>aTc	p.T246I	PRKAG3_ENST00000545803.1_Missense_Mutation_p.T87I|PRKAG3_ENST00000529249.1_Missense_Mutation_p.T271I|PRKAG3_ENST00000392098.3_Intron	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	271	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCCTCCAGGTCTCAATCTT	0.552													False	0	False	2:219692564	0	A	219692564	G	A	219692564	3	1	88	1	0	0	0	0	1	0	0	0	12578	1261	44	2	685	2	PRKAG3	2	219692564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	782	219692564	23506809	3366	11078											
WNT6	7475	broad.mit.edu	37	chr2	219738522	219738522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggtgctgcgtagtacaGtgccaccgctgccgtgtgcg	14	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219738522G>A	ENST00000233948.3	+	4	1270	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q		NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	351					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTAGTACAGTGCCACCGCT	0.697													False	0	False	2:219738522	0	A	219738522	G	A	219738522	2	1	88	1	0	0	0	0	0	0	0	1	17477	1020	36	2		2	WNT6	2	219738522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45958	219738522	23460851	3367	11079											
WNT10A	80326	broad.mit.edu	37	chr2	219757865	219757865	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggatggctgcggcagcatgTgctgcggccgcggccacaac	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219757865T>C	ENST00000258411.3	+	4	1759	c.1126T>C	c.(1126-1128)Tgc>Cgc	p.C376R		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	376					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCAGCATGTGCTGCGGCCG	0.701													False	0	False	2:219757865	0	C	219757865	T	C	219757865	3	2	88	1	0	0	0	0	1	0	0	0	17466	1696	59	4	1140	4	WNT10A	2	219757865	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19343	219757865	23441508	3368	11080											
CCDC108	255101	broad.mit.edu	37	chr2	219870946	219870946	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcttgatgggaggcagtgtCtttgggaagggagggacatg	18	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219870946C>A	ENST00000341552.5	-	31	4803		c.e31-1		CCDC108_ENST00000453220.1_Splice_Site|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Splice_Site	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGCAGTGTCTTTGGGAAGG	0.602													False	0	True	2:219870946	0	A	219870946	C	A	219870946	5	1	88	1	0	0	0	0	0	0	1	0	2763	927	32	3	1078	3	CCDC108	2	219870946	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113081	219870946	23328427	3369	11081											
CCDC108	255101	broad.mit.edu	37	chr2	219874743	219874743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgttgaggaagagcaggCggctgcacttgctctgcaca	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219874743C>T	ENST00000341552.5	-	27	4456	c.4373G>A	c.(4372-4374)cGc>cAc	p.R1458H	CCDC108_ENST00000453220.1_Missense_Mutation_p.R1458H|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.R1458H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1458						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGAGCAGGCGGCTGCACTT	0.522													False	0	False	2:219874743	0	T	219874743	C	T	219874743	3	4	88	1	0	0	0	0	1	0	0	0	2763	768	27	1	1440	1	CCDC108	2	219874743	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3797	219874743	23324630	3370	11082											
CCDC108	255101	broad.mit.edu	37	chr2	219884315	219884315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtccagagagaagaggCgccacaggtgcttccgggtg	17	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219884315C>T	ENST00000341552.5	-	20	3469	c.3386G>A	c.(3385-3387)cGc>cAc	p.R1129H	CCDC108_ENST00000453220.1_Missense_Mutation_p.R1129H|CCDC108_ENST00000441968.1_Missense_Mutation_p.R1129H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1129						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGAAGAGGCGCCACAGGTG	0.612													False	0	False	2:219884315	0	T	219884315	C	T	219884315	3	4	88	1	0	0	0	0	1	0	0	0	2763	768	27	1	2455	1	CCDC108	2	219884315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9572	219884315	23315058	3371	11083											
CCDC108	255101	broad.mit.edu	37	chr2	219894360	219894360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgacccagctgaagttgAcacagtagtgctgcagggac	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219894360A>G	ENST00000341552.5	-	11	1498	c.1415T>C	c.(1414-1416)gTc>gCc	p.V472A	CCDC108_ENST00000409865.3_Missense_Mutation_p.V461A|CCDC108_ENST00000453220.1_Missense_Mutation_p.V472A|CCDC108_ENST00000410037.1_Missense_Mutation_p.V407A|CCDC108_ENST00000441968.1_Missense_Mutation_p.V472A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	472						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGAAGTTGACACAGTAGTG	0.572											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:219894360	0	G	219894360	A	G	219894360	3	3	88	1	0	0	0	0	1	0	0	0	2763	275	10	4	4462	4	CCDC108	2	219894360	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10045	219894360	23305013	3372	11084											
SLC23A3	151295	broad.mit.edu	37	chr2	220033556	220033556	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actaccactgccccggacacCtggtagaagagaggagagga	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220033556C>A	ENST00000455516.2	-	5	564		c.e5-1		SLC23A3_ENST00000295738.7_Splice_Site|SLC23A3_ENST00000409878.3_Splice_Site|SLC23A3_ENST00000396775.3_Intron	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3						transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCGGACACCTGGTAGAAGA	0.577													False	0	False	2:220033556	0	A	220033556	C	A	220033556	5	1	88	1	0	0	0	0	0	0	1	0	14544	695	24	3	1372	3	SLC23A3	2	220033556	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139196	220033556	23165817	3373	11085											
ABCB6	10058	broad.mit.edu	37	chr2	220075733	220075733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcattcccagctgtgAcacggccgtaacggatattg	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220075733A>G	ENST00000265316.3	-	15	2382	c.2066T>C	c.(2065-2067)gTc>gCc	p.V689A	ABCB6_ENST00000439002.2_Missense_Mutation_p.V643A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	689	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGCTGTGACACGGCCGTA	0.542													False	0	False	2:220075733	0	G	220075733	A	G	220075733	3	3	88	1	0	0	0	0	1	0	0	0	45	275	10	4	482	4	ABCB6	2	220075733	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	42177	220075733	23123640	3374	11086											
ABCB6	10058	broad.mit.edu	37	chr2	220077786	220077786	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtcctgcagagtctcccGcctgcaaggaaaggtggggt	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220077786G>A	ENST00000265316.3	-	13	2123	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	ABCB6_ENST00000439002.2_Splice_Site_p.R557W	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	603	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGTCTCCCGCCTGCAAGGA	0.602													False	0	True	2:220077786	0	A	220077786	G	A	220077786	5	1	88	1	0	0	0	0	0	0	1	0	45	1101	38	1	749	1	ABCB6	2	220077786	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2053	220077786	23121587	3375	11087											
ATG9A	79065	broad.mit.edu	37	chr2	220088899	220088899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacagccaacacatcttcGtcataaatggtgagggcaat	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220088899G>A	ENST00000409618.1	-	8	1633	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D	ATG9A_ENST00000361242.4_Silent_p.D398D|ATG9A_ENST00000396761.2_Silent_p.D398D|ATG9A_ENST00000409422.1_Silent_p.D337D			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	398					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACATCTTCGTCATAAATGG	0.567													False	0	False	2:220088899	0	A	220088899	G	A	220088899	2	1	88	1	0	0	0	0	0	0	0	1	1106	1136	40	1		1	ATG9A	2	220088899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11113	220088899	23110474	3376	11088											
ANKZF1	55139	broad.mit.edu	37	chr2	220100035	220100035	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgaccccactgtgcaGtgagtaaaggtccccatcct	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220100035G>A	ENST00000323348.5	+	10	1865		c.e10+1		ANKZF1_ENST00000409849.1_Splice_Site|ANKZF1_ENST00000410034.3_Splice_Site	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1							intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACTGTGCAGTGAGTAAAGG	0.522													False	0	False	2:220100035	0	A	220100035	G	A	220100035	5	1	88	1	0	0	0	0	0	0	1	0	693	1043	36	2	1726	2	ANKZF1	2	220100035	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11136	220100035	23099338	3377	11089											
ANKZF1	55139	broad.mit.edu	37	chr2	220100257	220100257	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcaacacgtaatgagttcCgaaggttcatggagaagaat	10	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220100257C>T	ENST00000323348.5	+	11	1927	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	ANKZF1_ENST00000409849.1_Nonsense_Mutation_p.R375*|ANKZF1_ENST00000410034.3_Nonsense_Mutation_p.R585*	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	585						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAATGAGTTCCGAAGGTTCAT	0.488													False	0	False	2:220100257	0	T	220100257	C	T	220100257	4	4	88	1	0	0	0	0	0	1	0	0	693	644	23	1	1791	1	ANKZF1	2	220100257	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222	220100257	23099116	3378	11090											
GLB1L	79411	broad.mit.edu	37	chr2	220102328	220102328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggccagaaggagcttgaGgatatggccattttggcaac	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220102328G>T	ENST00000295759.7	-	16	1908	c.1595C>A	c.(1594-1596)cCt>cAt	p.P532H	GLB1L_ENST00000392089.2_Missense_Mutation_p.P532H|GLB1L_ENST00000409640.1_Missense_Mutation_p.P442H|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Missense_Mutation_p.P442H			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	532					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGCTTGAGGATATGGCCA	0.458													False	0	False	2:220102328	0	T	220102328	G	T	220102328	3	4	88	1	0	0	0	0	1	0	0	0	6473	1000	35	3	377	3	GLB1L	2	220102328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2071	220102328	23097045	3379	11091											
GLB1L	79411	broad.mit.edu	37	chr2	220107551	220107551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaccaacaggttcgctagaGctgcctcattcagaaaggca	10	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220107551G>T	ENST00000295759.7	-	4	642	c.329C>A	c.(328-330)gCt>gAt	p.A110D	GLB1L_ENST00000392089.2_Missense_Mutation_p.A110D|GLB1L_ENST00000409640.1_Missense_Mutation_p.A110D|GLB1L_ENST00000356283.3_Missense_Mutation_p.A110D			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	110					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCGCTAGAGCTGCCTCATT	0.507													False	0	False	2:220107551	0	T	220107551	G	T	220107551	3	4	88	1	0	0	0	0	1	0	0	0	6473	971	34	3	1691	3	GLB1L	2	220107551	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5223	220107551	23091822	3380	11092											
TUBA4A	7277	broad.mit.edu	37	chr2	220115518	220115518	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cggggatcacactttaccatCtggttggcaggctcaaagca	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220115518C>T	ENST00000392088.2	-	4	1413	c.858G>A	c.(856-858)caG>caA	p.Q286Q	TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Silent_p.Q301Q	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	301					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTTACCATCTGGTTGGCAG	0.582													False	0	False	2:220115518	0	T	220115518	C	T	220115518	2	4	88	1	0	0	0	0	0	0	0	1	16833	912	32	2		2	TUBA4A	2	220115518	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7967	220115518	23083855	3381	11093											
TUBA4A	7277	broad.mit.edu	37	chr2	220116407	220116407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctctgggtggaagagCtgtcggtatgggccatttcg	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220116407C>T	ENST00000392088.2	-	3	765	c.210G>A	c.(208-210)caG>caA	p.Q70Q	TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Silent_p.Q85Q	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	85					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGAAGAGCTGTCGGTATG	0.547													False	0	False	2:220116407	0	T	220116407	C	T	220116407	2	4	88	1	0	0	0	0	0	0	0	1	16833	796	28	2		2	TUBA4A	2	220116407	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	889	220116407	23082966	3382	11094											
PTPRN	5798	broad.mit.edu	37	chr2	220162648	220162648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgggccccctcaggccCcagggctgccaggcgctcct	12	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162648C>T	ENST00000295718.2	-	13	2086	c.1846G>A	c.(1846-1848)Ggg>Agg	p.G616R	PTPRN_ENST00000423636.2_Missense_Mutation_p.G526R|PTPRN_ENST00000409251.3_Missense_Mutation_p.G587R	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	616					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCCTCAGGCCCCAGGGCTGCC	0.647													False	0	True	2:220162648	0	T	220162648	C	T	220162648	3	4	88	1	0	0	0	0	1	0	0	0	12886	623	22	2	1137	2	PTPRN	2	220162648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46241	220162648	23036725	3383	11095											
PTPRN	5798	broad.mit.edu	37	chr2	220162710	220162710	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgcacacacagagccacaGccagagccaccagcagccca	9	19	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162710G>T	ENST00000295718.2	-	13	2024	c.1784C>A	c.(1783-1785)gCt>gAt	p.A595D	PTPRN_ENST00000423636.2_Missense_Mutation_p.A505D|PTPRN_ENST00000409251.3_Missense_Mutation_p.A566D	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	595					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGAGCCACAGCCAGAGCCAC	0.657													False	0	False	2:220162710	0	T	220162710	G	T	220162710	3	4	88	1	0	0	0	0	1	0	0	0	12886	971	34	3	1199	3	PTPRN	2	220162710	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	220162710	23036663	3384	11096											
PTPRN	5798	broad.mit.edu	37	chr2	220162753	220162753	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacacctgccagggccaccaGagtgagcagcactgagcgca	12	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162753G>A	ENST00000295718.2	-	13	1981	c.1741C>T	c.(1741-1743)Ctg>Ttg	p.L581L	PTPRN_ENST00000423636.2_Silent_p.L491L|PTPRN_ENST00000409251.3_Silent_p.L552L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	581					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGGGCCACCAGAGTGAGCAGC	0.642													False	0	False	2:220162753	0	A	220162753	G	A	220162753	2	1	88	1	0	0	0	0	0	0	0	1	12886	933	33	2		2	PTPRN	2	220162753	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43	220162753	23036620	3385	11097											
PTPRN	5798	broad.mit.edu	37	chr2	220167053	220167053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaagctgggcaggtgaaGgccctggaaggtccccgtag	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220167053G>A	ENST00000295718.2	-	6	1040	c.800C>T	c.(799-801)cCt>cTt	p.P267L	PTPRN_ENST00000423636.2_Missense_Mutation_p.P177L|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.P267L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	267					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGCAGGTGAAGGCCCTGGAAG	0.637													False	0	False	2:220167053	0	A	220167053	G	A	220167053	3	1	88	1	0	0	0	0	1	0	0	0	12886	1000	35	2	2211	2	PTPRN	2	220167053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4300	220167053	23032320	3386	11098											
DES	1674	broad.mit.edu	37	chr2	220286186	220286186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaaggatgagatggcccGccatctgcgcgagtaccagg	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220286186G>A	ENST00000373960.3	+	6	1234	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	383	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGATGGCCCGCCATCTGCGC	0.607													False	0	True	2:220286186	0	A	220286186	G	A	220286186	3	1	88	1	0	0	0	0	1	0	0	0	4479	1087	38	1	1170	1	DES	2	220286186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119133	220286186	22913187	3387	11099											
SPEG	10290	broad.mit.edu	37	chr2	220336654	220336654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgccggtgtctacaagagCgtcattgccaacaagctggg	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220336654C>T	ENST00000312358.7	+	14	3912	c.3780C>T	c.(3778-3780)agC>agT	p.S1260S	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1260	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCTACAAGAGCGTCATTGCCA	0.632													False	0	False	2:220336654	0	T	220336654	C	T	220336654	2	4	88	1	0	0	0	0	0	0	0	1	15118	767	27	1		1	SPEG	2	220336654	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50468	220336654	22862719	3388	11100											
SPEG	10290	broad.mit.edu	37	chr2	220338459	220338459	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcccctagctgccgaggGgccctcctagaggcacgggc	15	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220338459G>T	ENST00000312358.7	+	18	4413	c.4281G>T	c.(4279-4281)ggG>ggT	p.G1427G	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1427	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGCCGAGGGGCCCTCCTAG	0.657													False	0	True	2:220338459	0	T	220338459	G	T	220338459	2	4	88	1	0	0	0	0	0	0	0	1	15118	1219	43	3		3	SPEG	2	220338459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1805	220338459	22860914	3389	11101											
SPEG	10290	broad.mit.edu	37	chr2	220347984	220347984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagctggaagagctgccCtcagtgccccgcccactgca	12	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220347984C>T	ENST00000312358.7	+	30	5931	c.5799C>T	c.(5797-5799)ccC>ccT	p.P1933P	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1933					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AAGAGCTGCCCTCAGTGCCCC	0.662													False	0	True	2:220347984	0	T	220347984	C	T	220347984	2	4	88	1	0	0	0	0	0	0	0	1	15118	668	24	2		2	SPEG	2	220347984	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9525	220347984	22851389	3390	11102											
SPEG	10290	broad.mit.edu	37	chr2	220348005	220348005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgccccgcccactgcaGcccgagttctctggctcccg	10	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220348005G>A	ENST00000312358.7	+	30	5952	c.5820G>A	c.(5818-5820)caG>caA	p.Q1940Q	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1940					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCACTGCAGCCCGAGTTCT	0.662													False	0	True	2:220348005	0	A	220348005	G	A	220348005	2	1	88	1	0	0	0	0	0	0	0	1	15118	962	34	2		2	SPEG	2	220348005	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	220348005	22851368	3391	11103											
SPEG	10290	broad.mit.edu	37	chr2	220355360	220355360	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgggaactcctctgtgggCtcagtgacaggtagctggga	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220355360C>A	ENST00000312358.7	+	37	9283	c.9151C>A	c.(9151-9153)Ctc>Atc	p.L3051I	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3051	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTCTGTGGGCTCAGTGACAG	0.617													False	0	True	2:220355360	0	A	220355360	C	A	220355360	3	1	88	1	0	0	0	0	1	0	0	0	15118	797	28	3	9309	3	SPEG	2	220355360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7355	220355360	22844013	3392	11104											
SPEG	10290	broad.mit.edu	37	chr2	220356957	220356957	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcgccaccctcttcttgCgaaaggttctctctgtacat	8	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220356957C>T	ENST00000312358.7	+	40	9718	c.9586C>T	c.(9586-9588)Cga>Tga	p.R3196*	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3196	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.R3196*(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTCTTCTTGCGAAAGGTTCT	0.607													False	0	False	2:220356957	0	T	220356957	C	T	220356957	4	4	88	1	0	0	0	0	0	1	0	0	15118	760	27	1	9756	1	SPEG	2	220356957	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1597	220356957	22842416	3393	11105											
GMPPA	29926	broad.mit.edu	37	chr2	220366724	220366724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgttggaagcccaccgaCgccagcgtcaccctttctta	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220366724C>T	ENST00000358215.3	+	5	763	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	GMPPA_ENST00000313597.5_Missense_Mutation_p.R132C|GMPPA_ENST00000341142.3_Missense_Mutation_p.R132C|GMPPA_ENST00000373917.3_Missense_Mutation_p.R132C|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.R132C	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	132					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		AGCCCACCGACGCCAGCGTCA	0.592													False	0	False	2:220366724	0	T	220366724	C	T	220366724	3	4	88	1	0	0	0	0	1	0	0	0	6539	536	19	1	408	1	GMPPA	2	220366724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9767	220366724	22832649	3394	11106											
GMPPA	29926	broad.mit.edu	37	chr2	220370767	220370767	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgcggctccgggagagCatcgtcctccatggagccac	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220370767C>A	ENST00000358215.3	+	11	1335	c.966C>A	c.(964-966)agC>agA	p.S322R	GMPPA_ENST00000313597.5_Missense_Mutation_p.S322R|GMPPA_ENST00000341142.3_Missense_Mutation_p.S322R|GMPPA_ENST00000373917.3_Missense_Mutation_p.S375R|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.S322R	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	322					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCCGGGAGAGCATCGTCCTCC	0.637													False	0	False	2:220370767	0	A	220370767	C	A	220370767	3	1	88	1	0	0	0	0	1	0	0	0	6539	709	25	3	1004	3	GMPPA	2	220370767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4043	220370767	22828606	3395	11107											
CHPF	79586	broad.mit.edu	37	chr2	220404532	220404532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaagaaggcctgccagccgGagatggcatgcatgcggcag	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220404532G>T	ENST00000243776.6	-	4	2149	c.1901C>A	c.(1900-1902)tCc>tAc	p.S634Y	CHPF_ENST00000535926.1_Missense_Mutation_p.S472Y	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	634						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGCCAGCCGGAGATGGCATG	0.652													False	0	False	2:220404532	0	T	220404532	G	T	220404532	3	4	88	1	0	0	0	0	1	0	0	0	3391	1174	41	3	430	3	CHPF	2	220404532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33765	220404532	22794841	3396	11108											
TMEM198	130612	broad.mit.edu	37	chr2	220409581	220409581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccctcgtctgcatcatGtgctgtttgtttggagtcgt	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220409581G>A	ENST00000344458.2	+	3	717	c.132G>A	c.(130-132)atG>atA	p.M44I	TMEM198_ENST00000373883.3_Missense_Mutation_p.M44I			Q66K66	TM198_HUMAN	transmembrane protein 198	44						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCTGCATCATGTGCTGTTTGT	0.597													False	0	False	2:220409581	0	A	220409581	G	A	220409581	3	1	88	1	0	0	0	0	1	0	0	0	16201	1377	48	2	134	2	TMEM198	2	220409581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5049	220409581	22789792	3397	11109											
TMEM198	130612	broad.mit.edu	37	chr2	220412347	220412347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgagtgctggggcgagcGcgggcatcgctctgggcatc	18	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220412347G>A	ENST00000344458.2	+	4	871	c.286G>A	c.(286-288)Gcg>Acg	p.A96T	RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.A96T			Q66K66	TM198_HUMAN	transmembrane protein 198	96	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGGGCGAGCGCGGGCATCGC	0.652													False	0	False	2:220412347	0	A	220412347	G	A	220412347	3	1	88	1	0	0	0	0	1	0	0	0	16201	1087	38	1	292	1	TMEM198	2	220412347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2766	220412347	22787026	3398	11110											
TMEM198	130612	broad.mit.edu	37	chr2	220412405	220412405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggccatgctagtgcgcaGcgtgggcctcttcctggtgg	17	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220412405G>A	ENST00000344458.2	+	4	929	c.344G>A	c.(343-345)aGc>aAc	p.S115N	TMEM198_ENST00000373883.3_Missense_Mutation_p.S115N			Q66K66	TM198_HUMAN	transmembrane protein 198	115	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTAGTGCGCAGCGTGGGCCTC	0.701													False	0	False	2:220412405	0	A	220412405	G	A	220412405	3	1	88	1	0	0	0	0	1	0	0	0	16201	971	34	2	350	2	TMEM198	2	220412405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	220412405	22786968	3399	11111											
OBSL1	23363	broad.mit.edu	37	chr2	220419272	220419272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagtcggccaggcccagGccattgagtaccagtcggtg	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220419272G>A	ENST00000404537.1	-	15	4856	c.4800C>T	c.(4798-4800)ggC>ggT	p.G1600G	OBSL1_ENST00000373876.1_Silent_p.G1508G|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1600					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCAGGCCCAGGCCATTGAGTA	0.637													False	0	True	2:220419272	0	A	220419272	G	A	220419272	2	1	88	1	0	0	0	0	0	0	0	1	10881	1190	42	2		2	OBSL1	2	220419272	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6867	220419272	22780101	3400	11112											
OBSL1	23363	broad.mit.edu	37	chr2	220424002	220424002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatcacatacaaactcGcccccgtcctcgggctgagc	8	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220424002G>A	ENST00000404537.1	-	9	3227	c.3171C>T	c.(3169-3171)ggC>ggT	p.G1057G	OBSL1_ENST00000373876.1_Silent_p.G1057G|OBSL1_ENST00000265317.5_Silent_p.G48G|OBSL1_ENST00000603926.1_Silent_p.G1057G|OBSL1_ENST00000265318.4_Silent_p.G1057G|RP11-256I23.2_ENST00000597192.1_RNA	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1057	Ig-like 8.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.G1057G(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ATACAAACTCGCCCCCGTCCT	0.627													False	0	True	2:220424002	0	A	220424002	G	A	220424002	2	1	88	1	0	0	0	0	0	0	0	1	10881	1074	38	1		1	OBSL1	2	220424002	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4730	220424002	22775371	3401	11113											
OBSL1	23363	broad.mit.edu	37	chr2	220431577	220431577	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgtgagggcagctgagtcCtgcacgccggggcagctgaa	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220431577C>A	ENST00000404537.1	-	5	2165	c.2109G>T	c.(2107-2109)caG>caT	p.Q703H	OBSL1_ENST00000373876.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000373873.4_Missense_Mutation_p.Q703H|OBSL1_ENST00000603926.1_Missense_Mutation_p.Q703H|OBSL1_ENST00000265318.4_Missense_Mutation_p.Q703H|OBSL1_ENST00000289656.3_Missense_Mutation_p.Q290H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	703					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGCTGAGTCCTGCACGCCGG	0.597													False	0	False	2:220431577	0	A	220431577	C	A	220431577	3	1	88	1	0	0	0	0	1	0	0	0	10881	680	24	3	3801	3	OBSL1	2	220431577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7575	220431577	22767796	3402	11114											
STK11IP	114790	broad.mit.edu	37	chr2	220473436	220473436	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagctcgcaccttggagCgactggagctccagagtctg	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220473436C>T	ENST00000456909.1	+	15	1825	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*	STK11IP_ENST00000295641.10_Nonsense_Mutation_p.R590*			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	590	Glu-rich.				protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCTTGGAGCGACTGGAGCT	0.657													False	0	False	2:220473436	0	T	220473436	C	T	220473436	4	4	88	1	0	0	0	0	0	1	0	0	15370	760	27	1	1826	1	STK11IP	2	220473436	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41859	220473436	22725937	3403	11115											
STK11IP	114790	broad.mit.edu	37	chr2	220473895	220473895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaccggcagttgcgtcGctatttggtgctggagcctg	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220473895G>A	ENST00000456909.1	+	16	1976	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	STK11IP_ENST00000295641.10_Missense_Mutation_p.R640H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	640					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGTTGCGTCGCTATTTGGTG	0.647													False	0	False	2:220473895	0	A	220473895	G	A	220473895	3	1	88	1	0	0	0	0	1	0	0	0	15370	1087	38	1	1981	1	STK11IP	2	220473895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	459	220473895	22725478	3404	11116											
STK11IP	114790	broad.mit.edu	37	chr2	220479906	220479906	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggtccccggcagagccctCtcctccagcagcatctggcg	12	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220479906C>A	ENST00000456909.1	+	24	3050	c.2960C>A	c.(2959-2961)tCt>tAt	p.S987Y	STK11IP_ENST00000295641.10_Missense_Mutation_p.S998Y			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	998					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGAGCCCTCTCCTCCAGCA	0.652													False	0	False	2:220479906	0	A	220479906	C	A	220479906	3	1	88	1	0	0	0	0	1	0	0	0	15370	913	32	3	3087	3	STK11IP	2	220479906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6011	220479906	22719467	3405	11117											
STK11IP	114790	broad.mit.edu	37	chr2	220479972	220479972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccgggccctgctgtgcGtgtcagggagcagcagccac	18	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220479972G>A	ENST00000456909.1	+	24	3116	c.3026G>A	c.(3025-3027)cGt>cAt	p.R1009H	STK11IP_ENST00000295641.10_Missense_Mutation_p.R1020H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	1020					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCTGTGCGTGTCAGGGAG	0.652													False	0	False	2:220479972	0	A	220479972	G	A	220479972	3	1	88	1	0	0	0	0	1	0	0	0	15370	1145	40	1	3153	1	STK11IP	2	220479972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66	220479972	22719401	3406	11118											
SLC4A3	6508	broad.mit.edu	37	chr2	220496996	220496996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccaggtgttcgtggagCtgaacgagctgatgctggac	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220496996C>T	ENST00000358055.3	+	8	1485	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	SLC4A3_ENST00000317151.3_Silent_p.L325L|SLC4A3_ENST00000373762.3_Silent_p.L352L|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Silent_p.L325L|SLC4A3_ENST00000273063.6_Silent_p.L352L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	325					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCGTGGAGCTGAACGAGCT	0.667													False	0	False	2:220496996	0	T	220496996	C	T	220496996	2	4	88	1	0	0	0	0	0	0	0	1	14735	796	28	2		2	SLC4A3	2	220496996	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17024	220496996	22702377	3407	11119											
SLC4A3	6508	broad.mit.edu	37	chr2	220497695	220497695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagatccggccggaggacaGggccagcgtcctacgtaccc	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220497695G>A	ENST00000358055.3	+	9	1753	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	SLC4A3_ENST00000317151.3_Missense_Mutation_p.R414K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R441K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R414K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R441K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	414					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGAGGACAGGGCCAGCGTC	0.647													False	0	True	2:220497695	0	A	220497695	G	A	220497695	3	1	88	1	0	0	0	0	1	0	0	0	14735	1000	35	2	1352	2	SLC4A3	2	220497695	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	699	220497695	22701678	3408	11120											
SLC4A3	6508	broad.mit.edu	37	chr2	220504209	220504209	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accttctccctgcaggcttaTcgtcagccagaaggcgcgga	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220504209T>G	ENST00000358055.3	+	20	3541	c.3029T>G	c.(3028-3030)aTc>aGc	p.I1010S	SLC4A3_ENST00000317151.3_Missense_Mutation_p.I1010S|SLC4A3_ENST00000373762.3_Missense_Mutation_p.I1037S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.I1010S|SLC4A3_ENST00000273063.6_Missense_Mutation_p.I1037S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1010	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCAGGCTTATCGTCAGCCAG	0.662													False	0	False	2:220504209	0	G	220504209	T	G	220504209	3	3	88	1	0	0	0	0	1	0	0	0	14735	1435	50	4	3184	4	SLC4A3	2	220504209	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6514	220504209	22695164	3409	11121											
EPHA4	2043	broad.mit.edu	37	chr2	222294720	222294720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaagctgttggggttgCggatgagtttgtccaacatg	13	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:222294720C>T	ENST00000281821.2	-	15	2689	c.2648G>A	c.(2647-2649)cGc>cAc	p.R883H	EPHA4_ENST00000409854.1_Missense_Mutation_p.R883H|EPHA4_ENST00000409938.1_Missense_Mutation_p.R883H|EPHA4_ENST00000392071.4_Missense_Mutation_p.R832H	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	883						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTTGGGGTTGCGGATGAGTTT	0.512													False	0	False	2:222294720	0	T	222294720	C	T	222294720	3	4	88	1	0	0	0	0	1	0	0	0	5201	768	27	1	324	1	EPHA4	2	222294720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1790511	222294720	20904653	3410	11122											
EPHA4	2043	broad.mit.edu	37	chr2	222428879	222428879	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatgaaacgctctttgTcgttgtctgattcatagtag	9	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:222428879T>C	ENST00000281821.2	-	3	436	c.395A>G	c.(394-396)gAc>gGc	p.D132G	EPHA4_ENST00000409854.1_Missense_Mutation_p.D132G|EPHA4_ENST00000409938.1_Missense_Mutation_p.D132G|EPHA4_ENST00000392071.4_Missense_Mutation_p.D81G	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	132						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACGCTCTTTGTCGTTGTCTGA	0.443													False	0	False	2:222428879	0	C	222428879	T	C	222428879	3	2	88	1	0	0	0	0	1	0	0	0	5201	1667	58	4	2625	4	EPHA4	2	222428879	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	134159	222428879	20770494	3411	11123											
FARSB	10056	broad.mit.edu	37	chr2	223496342	223496342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttagtaaagtcagttcccGtgcattcaataaaaatattt	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223496342G>A	ENST00000281828.6	-	8	1030	c.767C>T	c.(766-768)aCg>aTg	p.T256M	FARSB_ENST00000536361.1_Missense_Mutation_p.T157M	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	256					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	p.T256M(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GTCAGTTCCCGTGCATTCAAT	0.299													False	0	True	2:223496342	0	A	223496342	G	A	223496342	3	1	88	1	0	0	0	0	1	0	0	0	5720	1145	40	1	1042	1	FARSB	2	223496342	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1067463	223496342	19703031	3412	11124											
ACSL3	2181	broad.mit.edu	37	chr2	223773626	223773626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccgttttattttttctccGagtcaagacaagaaaaatca	5	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223773626G>A	ENST00000357430.3	+	4	667	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ACSL3_ENST00000392066.3_Missense_Mutation_p.E46K	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	46					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	p.E46*(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTTTTCTCCGAGTCAAGACA	0.299			T	ETV1	prostate								False	0	False	2:223773626	0	A	223773626	G	A	223773626	3	1	88	1	0	0	0	0	1	0	0	0	178	1059	37	1	138	1	ACSL3	2	223773626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	277284	223773626	19425747	3413	11125											
ACSL3	2181	broad.mit.edu	37	chr2	223783810	223783810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttggtcccacgcctgcGgcacatcatcactgttgatg	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223783810G>A	ENST00000357430.3	+	7	1226	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	ACSL3_ENST00000392066.3_Missense_Mutation_p.R232Q|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	232					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	p.R232Q(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CCACGCCTGCGGCACATCATC	0.483			T	ETV1	prostate								False	0	False	2:223783810	0	A	223783810	G	A	223783810	3	1	88	1	0	0	0	0	1	0	0	0	178	1116	39	1	709	1	ACSL3	2	223783810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10184	223783810	19415563	3414	11126											
ACSL3	2181	broad.mit.edu	37	chr2	223786120	223786120	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acattattgctggtataactGggatggcagaaaggattcca	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223786120G>T	ENST00000357430.3	+	8	1459	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	ACSL3_ENST00000392066.3_Missense_Mutation_p.G310W	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	310					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TGGTATAACTGGGATGGCAGA	0.368			T	ETV1	prostate								False	0	True	2:223786120	0	T	223786120	G	T	223786120	3	4	88	1	0	0	0	0	1	0	0	0	178	1348	47	3	946	3	ACSL3	2	223786120	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2310	223786120	19413253	3415	11127											
KCNE4	23704	broad.mit.edu	37	chr2	223917882	223917882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggagagcgtggcgcccGcgctgtcctgcaccctctgt	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223917882G>A	ENST00000281830.3	+	2	818	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.A112T			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	112						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGTGGCGCCCGCGCTGTCCTG	0.672													False	0	True	2:223917882	0	A	223917882	G	A	223917882	3	1	88	1	0	0	0	0	1	0	0	0	8075	1087	38	1	336	1	KCNE4	2	223917882	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131762	223917882	19281491	3416	11128											
SCG2	7857	broad.mit.edu	37	chr2	224463355	224463355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcatccatcctctcacGtttctggttgtttggtcctg	7	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224463355G>A	ENST00000305409.2	-	2	878	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	216					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCCTCTCACGTTTCTGGTTG	0.423													False	0	True	2:224463355	0	A	224463355	G	A	224463355	3	1	88	1	0	0	0	0	1	0	0	0	13971	1145	40	1	1211	1	SCG2	2	224463355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	545473	224463355	18736018	3417	11129											
SCG2	7857	broad.mit.edu	37	chr2	224463404	224463404	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccagctcttggaagacagaTtccaatgtagcaaggctttg	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224463404T>A	ENST00000305409.2	-	2	829	c.597A>T	c.(595-597)gaA>gaT	p.E199D		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	199					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAAGACAGATTCCAATGTAG	0.423													False	0	False	2:224463404	0	A	224463404	T	A	224463404	3	1	88	1	0	0	0	0	1	0	0	0	13971	1490	52	5	1260	5	SCG2	2	224463404	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49	224463404	18735969	3418	11130											
SERPINE2	5270	broad.mit.edu	37	chr2	224856691	224856691	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagcacaccatcaataagatCtggggacagcagattgtcaa	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224856691C>A	ENST00000409840.3	-	5	1174	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	SERPINE2_ENST00000409304.1_Missense_Mutation_p.D172Y|SERPINE2_ENST00000258405.4_Missense_Mutation_p.D172Y|SERPINE2_ENST00000447280.2_Missense_Mutation_p.D184Y			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	172					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAATAAGATCTGGGGACAGC	0.488													False	0	False	2:224856691	0	A	224856691	C	A	224856691	3	1	88	1	0	0	0	0	1	0	0	0	14193	913	32	3	706	3	SERPINE2	2	224856691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	393287	224856691	18342682	3419	11131											
SERPINE2	5270	broad.mit.edu	37	chr2	224866571	224866571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtgggagcagatggaaGgcagcgtcacagaggccaag	17	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224866571G>T	ENST00000409840.3	-	3	707	c.47C>A	c.(46-48)cCt>cAt	p.P16H	SERPINE2_ENST00000409304.1_Missense_Mutation_p.P16H|SERPINE2_ENST00000258405.4_Missense_Mutation_p.P16H|SERPINE2_ENST00000447280.2_Missense_Mutation_p.P28H			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	16					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCAGATGGAAGGCAGCGTCAC	0.483													False	0	False	2:224866571	0	T	224866571	G	T	224866571	3	4	88	1	0	0	0	0	1	0	0	0	14193	1000	35	3	1181	3	SERPINE2	2	224866571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9880	224866571	18332802	3420	11132											
FAM124B	79843	broad.mit.edu	37	chr2	225266170	225266170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaaaaagtagggacacaGccttccccgagtgtcctggg	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225266170G>T	ENST00000389874.3	-	1	541	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	FAM124B_ENST00000243806.2_Missense_Mutation_p.L106M|FAM124B_ENST00000409685.3_Missense_Mutation_p.L106M	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	106							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TAGGGACACAGCCTTCCCCGA	0.597													False	0	False	2:225266170	0	T	225266170	G	T	225266170	3	4	88	1	0	0	0	0	1	0	0	0	5462	962	34	3	1150	3	FAM124B	2	225266170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	399599	225266170	17933203	3421	11133											
CUL3	8452	broad.mit.edu	37	chr2	225362504	225362504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataaaatgtggcattgagaTctgcagaacccatatgatgc	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225362504T>C	ENST00000264414.4	-	12	2011	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	CUL3_ENST00000409096.1_Missense_Mutation_p.D534G|CUL3_ENST00000344951.4_Missense_Mutation_p.D492G|CUL3_ENST00000409777.1_Missense_Mutation_p.D534G	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	558					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GGCATTGAGATCTGCAGAACC	0.358													False	0	False	2:225362504	0	C	225362504	T	C	225362504	3	2	88	1	0	0	0	0	1	0	0	0	4081	1435	50	4	653	4	CUL3	2	225362504	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96334	225362504	17836869	3422	11134											
DOCK10	55619	broad.mit.edu	37	chr2	225637950	225637950	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattgtgcaaagctgattaAgctcagaaaccttcttggac	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225637950A>C	ENST00000409592.3	-	53	6223	c.6110T>G	c.(6109-6111)cTt>cGt	p.L2037R	DOCK10_ENST00000258390.7_Missense_Mutation_p.L2043R			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2043	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAGCTGATTAAGCTCAGAAAC	0.458													False	0	False	2:225637950	0	C	225637950	A	C	225637950	3	2	88	1	0	0	0	0	1	0	0	0	4715	72	3	4	448	4	DOCK10	2	225637950	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	275446	225637950	17561423	3423	11135											
DOCK10	55619	broad.mit.edu	37	chr2	225639794	225639794	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgtcacataggtcacctgGatgtaggcatatttggggtc	14	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225639794G>A	ENST00000409592.3	-	52	5936	c.5823C>T	c.(5821-5823)atC>atT	p.I1941I	DOCK10_ENST00000258390.7_Silent_p.I1947I			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1947	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGGTCACCTGGATGTAGGCAT	0.488													False	0	False	2:225639794	0	A	225639794	G	A	225639794	2	1	88	1	0	0	0	0	0	0	0	1	4715	1164	41	2		2	DOCK10	2	225639794	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1844	225639794	17559579	3424	11136											
DOCK10	55619	broad.mit.edu	37	chr2	225651780	225651780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagtagcgaccaaacagccGcttctccgaattcaccacct	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225651780G>A	ENST00000409592.3	-	50	5709	c.5596C>T	c.(5596-5598)Cgg>Tgg	p.R1866W	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1872W			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1872	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCAAACAGCCGCTTCTCCGAA	0.433													False	0	False	2:225651780	0	A	225651780	G	A	225651780	3	1	88	1	0	0	0	0	1	0	0	0	4715	1086	38	1	974	1	DOCK10	2	225651780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11986	225651780	17547593	3425	11137											
DOCK10	55619	broad.mit.edu	37	chr2	225651821	225651821	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccactttcagatatgacCgatgaatgtcgtagtagaga	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225651821C>A	ENST00000409592.3	-	50	5668	c.5555G>T	c.(5554-5556)cGg>cTg	p.R1852L	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1858L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1858	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CAGATATGACCGATGAATGTC	0.403													False	0	False	2:225651821	0	A	225651821	C	A	225651821	3	1	88	1	0	0	0	0	1	0	0	0	4715	652	23	3	1015	3	DOCK10	2	225651821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41	225651821	17547552	3426	11138											
IRS1	3667	broad.mit.edu	37	chr2	227660982	227660982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggaaggctgggctccaGcctagccccgcagtatcccc	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227660982G>A	ENST00000305123.5	-	1	3493	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTGGGCTCCAGCCTAGCCCCG	0.612													False	0	False	2:227660982	0	A	227660982	G	A	227660982	2	1	88	1	0	0	0	0	0	0	0	1	7890	962	34	2		2	IRS1	2	227660982	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2009161	227660982	15538391	3427	11139											
RHBDD1	84236	broad.mit.edu	37	chr2	227771551	227771551	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgggattcttgttggactAatgtacactcaagggcctct	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227771551A>G	ENST00000392062.2	+	6	1133	c.609A>G	c.(607-609)ctA>ctG	p.L203L	RHBDD1_ENST00000341329.3_Silent_p.L203L|RHBDD1_ENST00000409053.1_Silent_p.L37L	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	203						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTGTTGGACTAATGTACACTC	0.448													False	0	False	2:227771551	0	G	227771551	A	G	227771551	2	3	88	1	0	0	0	0	0	0	0	1	13395	349	13	4		4	RHBDD1	2	227771551	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	110569	227771551	15427822	3428	11140											
COL4A4	1286	broad.mit.edu	37	chr2	227945157	227945157	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagaagaattctacatActggaggtcctggatcccct	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227945157A>G	ENST00000396625.3	-	24	2011		c.e24+1		COL4A4_ENST00000329662.7_Splice_Site	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4						axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AATTCTACATACTGGAGGTCC	0.448													False	0	False	2:227945157	0	G	227945157	A	G	227945157	5	3	88	1	0	0	0	0	0	0	1	0	3716	405	14	4	3367	4	COL4A4	2	227945157	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	173606	227945157	15254216	3429	11141											
COL4A4	1286	broad.mit.edu	37	chr2	227963476	227963476	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggtccaacatcccctgtttCtccatagcggccagggaacc	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227963476C>A	ENST00000396625.3	-	19	1345	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.E380*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	380	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCCCTGTTTCTCCATAGCGG	0.527													False	0	True	2:227963476	0	A	227963476	C	A	227963476	4	1	88	1	0	0	0	0	0	1	0	0	3716	922	32	3	4054	3	COL4A4	2	227963476	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18319	227963476	15235897	3430	11142											
COL4A4	1286	broad.mit.edu	37	chr2	227966227	227966227	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcactttttacctttgggCcaattaatccaaatagccca	5	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227966227C>A	ENST00000396625.3	-	17	1229	c.1022G>T	c.(1021-1023)gGc>gTc	p.G341V	COL4A4_ENST00000329662.7_Missense_Mutation_p.G341V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	341	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TACCTTTGGGCCAATTAATCC	0.328													False	0	True	2:227966227	0	A	227966227	C	A	227966227	3	1	88	1	0	0	0	0	1	0	0	0	3716	739	26	3	4178	3	COL4A4	2	227966227	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2751	227966227	15233146	3431	11143											
COL4A4	1286	broad.mit.edu	37	chr2	228004944	228004944	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccacaaggaccaatgtatTtctttccactctggaaagtg	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228004944T>G	ENST00000396625.3	-	4	332	c.125A>C	c.(124-126)aAa>aCa	p.K42T	COL4A4_ENST00000329662.7_Missense_Mutation_p.K42T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	42	7S domain.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCAATGTATTTCTTTCCACT	0.408													False	0	True	2:228004944	0	G	228004944	T	G	228004944	3	3	88	1	0	0	0	0	1	0	0	0	3716	1841	64	4	5127	4	COL4A4	2	228004944	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38717	228004944	15194429	3432	11144											
COL4A3	1285	broad.mit.edu	37	chr2	228118353	228118354	+	Splice_Site	INS	-	-	T													actggcccagataacagaacINSggtaactctgcgattttatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228118353_228118354insT	ENST00000396578.3	+	13	926_927	c.764_765insT	c.(763-768)acggac>acTggac	p.D256fs	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	256	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GATAACAGAACGGTAACTCTGC	0.47													False	0	False	2:228118353	0	T	228118354	-	T	228118353	8	5	88	1	0	1	1	0	0	0	1	0	3714	550	19	0	814	0	COL4A3	2	228118353	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	113409	228118353	15081020	3433	11145											
COL4A3	1285	broad.mit.edu	37	chr2	228145242	228145242	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggggaacatggagaaatTggactccctggacttccagg	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228145242T>C	ENST00000396578.3	+	30	2472	c.2310T>C	c.(2308-2310)atT>atC	p.I770I	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	770	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATGGAGAAATTGGACTCCCTG	0.502													False	0	False	2:228145242	0	C	228145242	T	C	228145242	2	2	88	1	0	0	0	0	0	0	0	1	3714	1800	63	4		4	COL4A3	2	228145242	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26889	228145242	15054131	3434	11146											
COL4A3	1285	broad.mit.edu	37	chr2	228158022	228158022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggaagtcctggaagtcCtggcctcccaggtaaggctt	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228158022C>T	ENST00000396578.3	+	38	3488	c.3326C>T	c.(3325-3327)cCt>cTt	p.P1109L	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1109	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCTGGAAGTCCTGGCCTCCCA	0.507													False	0	False	2:228158022	0	T	228158022	C	T	228158022	3	4	88	1	0	0	0	0	1	0	0	0	3714	681	24	2	3476	2	COL4A3	2	228158022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12780	228158022	15041351	3435	11147											
MFF	56947	broad.mit.edu	37	chr2	228195439	228195439	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atactgaaggcattagtcagCgaatgagggtcccagaaaag	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228195439C>T	ENST00000353339.3	+	4	577	c.136C>T	c.(136-138)Cga>Tga	p.R46*	MFF_ENST00000524634.1_Intron|MFF_ENST00000337110.7_Nonsense_Mutation_p.R20*|MFF_ENST00000409616.1_Nonsense_Mutation_p.R20*|MFF_ENST00000354503.6_Nonsense_Mutation_p.R20*|MFF_ENST00000476924.1_Intron|MFF_ENST00000409565.1_Nonsense_Mutation_p.R20*|MFF_ENST00000304593.9_Nonsense_Mutation_p.R20*|MFF_ENST00000392059.1_Nonsense_Mutation_p.R46*|MFF_ENST00000349901.7_Nonsense_Mutation_p.R20*	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	46						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CATTAGTCAGCGAATGAGGGT	0.463													False	0	False	2:228195439	0	T	228195439	C	T	228195439	4	4	88	1	0	0	0	0	0	1	0	0	9586	760	27	1	142	1	MFF	2	228195439	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37417	228195439	15003934	3436	11148											
MFF	56947	broad.mit.edu	37	chr2	228197205	228197205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcaactccctttaaaccCctggcactgaaaacaccacc	4	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228197205C>T	ENST00000353339.3	+	5	771	c.330C>T	c.(328-330)ccC>ccT	p.P110P	MFF_ENST00000524634.1_5'UTR|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000409616.1_Silent_p.P84P|MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409565.1_Silent_p.P84P|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000349901.7_Silent_p.P84P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	110						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CCTTTAAACCCCTGGCACTGA	0.398													False	0	True	2:228197205	0	T	228197205	C	T	228197205	2	4	88	1	0	0	0	0	0	0	0	1	9586	610	22	2		2	MFF	2	228197205	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1766	228197205	15002168	3437	11149											
MFF	56947	broad.mit.edu	37	chr2	228205077	228205077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttcgccaaaatggacagCtggtcagaaatgattctctg	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228205077C>T	ENST00000353339.3	+	6	940	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	MFF_ENST00000524634.1_Silent_p.L12L|MFF_ENST00000337110.7_Silent_p.L141L|MFF_ENST00000409616.1_Silent_p.L141L|MFF_ENST00000354503.6_Silent_p.L141L|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409565.1_Silent_p.L141L|MFF_ENST00000304593.9_Silent_p.L141L|MFF_ENST00000392059.1_Silent_p.L167L|MFF_ENST00000349901.7_Silent_p.L141L	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	167						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAATGGACAGCTGGTCAGAAA	0.388													False	0	False	2:228205077	0	T	228205077	C	T	228205077	2	4	88	1	0	0	0	0	0	0	0	1	9586	796	28	2		2	MFF	2	228205077	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7872	228205077	14994296	3438	11150											
TM4SF20	79853	broad.mit.edu	37	chr2	228230946	228230946	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgatcacactgaaaagTgatgaaagaaacatctgaaa	8	6	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228230946T>G	ENST00000304568.3	-	3	301	c.264A>C	c.(262-264)tcA>tcC	p.S88S		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	88						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CACTGAAAAGTGATGAAAGAA	0.378													False	0	False	2:228230946	0	G	228230946	T	G	228230946	2	3	88	1	0	0	0	0	0	0	0	1	16051	1683	59	4		4	TM4SF20	2	228230946	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25869	228230946	14968427	3439	11151											
AGFG1	3267	broad.mit.edu	37	chr2	228401620	228401620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttataattttttaaagctaCgccttccacaaatccatttg	3	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228401620C>T	ENST00000310078.8	+	10	1549	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M	AGFG1_ENST00000409979.2_Missense_Mutation_p.T454M|AGFG1_ENST00000373671.3_Missense_Mutation_p.T390M|AGFG1_ENST00000409171.1_Missense_Mutation_p.T430M|AGFG1_ENST00000409315.1_Missense_Mutation_p.T409M	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1						cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TTTAAAGCTACGCCTTCCACA	0.333													False	0	False	2:228401620	0	T	228401620	C	T	228401620	3	4	88	1	0	0	0	0	1	0	0	0	380	536	19	1	1403	1	AGFG1	2	228401620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170674	228401620	14797753	3440	11152											
SPHKAP	80309	broad.mit.edu	37	chr2	228846450	228846450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttattatcccagttccaagaGccagtcaaagagactcagtc	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228846450G>T	ENST00000392056.3	-	12	5132	c.5086C>A	c.(5086-5088)Ctc>Atc	p.L1696I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1667I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1696						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTTCCAAGAGCCAGTCAAAG	0.438													False	0	False	2:228846450	0	T	228846450	G	T	228846450	3	4	88	1	0	0	0	0	1	0	0	0	15130	971	34	3	20	3	SPHKAP	2	228846450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	444830	228846450	14352923	3441	11153											
SPHKAP	80309	broad.mit.edu	37	chr2	228881170	228881170	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtctccacctctcaccacaTctgggatgtttttgtcattc	6	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881170T>A	ENST00000392056.3	-	7	4446	c.4400A>T	c.(4399-4401)gAt>gTt	p.D1467V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1467V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1467						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCACCACATCTGGGATGTT	0.512													False	0	False	2:228881170	0	A	228881170	T	A	228881170	3	1	88	1	0	0	0	0	1	0	0	0	15130	1435	50	5	726	5	SPHKAP	2	228881170	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34720	228881170	14318203	3442	11154											
SPHKAP	80309	broad.mit.edu	37	chr2	228881439	228881439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgggggctgtttacattcGgtaacagagtctttcctcgg	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881439G>A	ENST00000392056.3	-	7	4177	c.4131C>T	c.(4129-4131)acC>acT	p.T1377T	SPHKAP_ENST00000344657.5_Silent_p.T1377T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1377						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTTACATTCGGTAACAGAGT	0.478													False	0	False	2:228881439	0	A	228881439	G	A	228881439	2	1	88	1	0	0	0	0	0	0	0	1	15130	1103	39	1		1	SPHKAP	2	228881439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269	228881439	14317934	3443	11155											
SPHKAP	80309	broad.mit.edu	37	chr2	228881731	228881731	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagagaccggatgaggacGcgctactgaccggctgcacg	15	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881731G>A	ENST00000392056.3	-	7	3885	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1280V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1280						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGATGAGGACGCGCTACTGAC	0.512													False	0	False	2:228881731	0	A	228881731	G	A	228881731	3	1	88	1	0	0	0	0	1	0	0	0	15130	1087	38	1	1287	1	SPHKAP	2	228881731	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	292	228881731	14317642	3444	11156											
SPHKAP	80309	broad.mit.edu	37	chr2	228882946	228882946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtggatactctcctcaGcctcctgggaaccacttctg	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228882946G>A	ENST00000392056.3	-	7	2670	c.2624C>T	c.(2623-2625)gCt>gTt	p.A875V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A875V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	875						cytoplasm	protein binding	p.A875D(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTCTCCTCAGCCTCCTGGGA	0.507													False	0	False	2:228882946	0	A	228882946	G	A	228882946	3	1	88	1	0	0	0	0	1	0	0	0	15130	971	34	2	2502	2	SPHKAP	2	228882946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1215	228882946	14316427	3445	11157											
SPHKAP	80309	broad.mit.edu	37	chr2	228884503	228884503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctctgccacagcacatGcagaaggtacatctttatcc	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228884503G>A	ENST00000392056.3	-	7	1113	c.1067C>T	c.(1066-1068)gCa>gTa	p.A356V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A356V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	356						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACAGCACATGCAGAAGGTAC	0.433													False	0	False	2:228884503	0	A	228884503	G	A	228884503	3	1	88	1	0	0	0	0	1	0	0	0	15130	1319	46	2	4059	2	SPHKAP	2	228884503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1557	228884503	14314870	3446	11158											
SPHKAP	80309	broad.mit.edu	37	chr2	228996712	228996712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttcttacaggctgtgAtggagttccccgggccgctt	11	12	1	1	rs77015733		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228996712A>G	ENST00000392056.3	-	2	168	c.122T>C	c.(121-123)aTc>aCc	p.I41T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.I41T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	41						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACAGGCTGTGATGGAGTTCCC	0.473													False	0	False	2:228996712	0	G	228996712	A	G	228996712	3	3	88	1	0	0	0	0	1	0	0	0	15130	333	12	4	5024	4	SPHKAP	2	228996712	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112209	228996712	14202661	3447	11159											
DNER	92737	broad.mit.edu	37	chr2	230231694	230231694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaccctggtattcaatgCggctgatgcggcaaatcccc	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230231694C>T	ENST00000341772.4	-	12	2131	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	666					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GTATTCAATGCGGCTGATGCG	0.542													False	0	False	2:230231694	0	T	230231694	C	T	230231694	3	4	88	1	0	0	0	0	1	0	0	0	4697	768	27	1	224	1	DNER	2	230231694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1234982	230231694	12967679	3448	11160											
TRIP12	9320	broad.mit.edu	37	chr2	230636293	230636293	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agactgattcaaatccatctCtgaacgaatcaaattgccta	5	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230636293C>A	ENST00000283943.5	-	38	5703	c.5525G>T	c.(5524-5526)aGa>aTa	p.R1842I	TRIP12_ENST00000389044.4_Missense_Mutation_p.R1890I|TRIP12_ENST00000389045.3_Missense_Mutation_p.R1572I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1842					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAATCCATCTCTGAACGAATC	0.368													False	0	False	2:230636293	0	A	230636293	C	A	230636293	3	1	88	1	0	0	0	0	1	0	0	0	16639	913	32	3	469	3	TRIP12	2	230636293	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	404599	230636293	12563080	3449	11161											
TRIP12	9320	broad.mit.edu	37	chr2	230667001	230667001	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatctaaagaatcatccctgCtgtgctgcaagctgggtgat	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230667001C>A	ENST00000283943.5	-	20	3126	c.2948G>T	c.(2947-2949)aGc>aTc	p.S983I	TRIP12_ENST00000389044.4_Missense_Mutation_p.S1031I|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.S713I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	983					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCATCCCTGCTGTGCTGCAA	0.488													False	0	True	2:230667001	0	A	230667001	C	A	230667001	3	1	88	1	0	0	0	0	1	0	0	0	16639	797	28	3	3118	3	TRIP12	2	230667001	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30708	230667001	12532372	3450	11162											
FBXO36	130888	broad.mit.edu	37	chr2	230875544	230875544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaagctccagctccagCggcagctccgcaagaggaaa	10	15	0	1	rs139190280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230875544C>T	ENST00000373652.3	+	5	839	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	FBXO36_ENST00000409992.1_Missense_Mutation_p.R151W|FBXO36_ENST00000283946.3_Missense_Mutation_p.R171W			Q8NEA4	FBX36_HUMAN	F-box protein 36	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCAGCTCCAGCGGCAGCTCCG	0.552													False	0	False	2:230875544	0	T	230875544	C	T	230875544	3	4	88	1	0	0	0	0	1	0	0	0	5785	759	27	1	525	1	FBXO36	2	230875544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208543	230875544	12323829	3451	11163											
SLC16A14	151473	broad.mit.edu	37	chr2	230911293	230911293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctccagccgtactctgcGcacaggtacttcagcagcac	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230911293G>A	ENST00000295190.4	-	4	1007	c.549C>T	c.(547-549)tgC>tgT	p.C183C		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	183						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CGTACTCTGCGCACAGGTACT	0.577													False	0	False	2:230911293	0	A	230911293	G	A	230911293	2	1	88	1	0	0	0	0	0	0	0	1	14488	1079	38	1		1	SLC16A14	2	230911293	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35749	230911293	12288080	3452	11164											
SP110	3431	broad.mit.edu	37	chr2	231077540	231077540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggtcagatgggctgggCgactcactcaggatctcatc	13	11	4	1	rs114550400	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231077540C>T	ENST00000258381.6	-	4	596	c.519G>A	c.(517-519)tcG>tcA	p.S173S	SP110_ENST00000392048.3_Silent_p.S173S|SP110_ENST00000358662.4_Silent_p.S173S|SP110_ENST00000258382.5_Silent_p.S173S|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000540870.1_Silent_p.S179S|SP110_ENST00000338556.3_5'UTR	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	173			S -> L (in dbSNP:rs41552315).		interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ATGGGCTGGGCGACTCACTCA	0.562													False	0	True	2:231077540	0	T	231077540	C	T	231077540	2	4	88	1	0	0	0	0	0	0	0	1	15041	755	27	1		1	SP110	2	231077540	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166247	231077540	12121833	3453	11165											
SP140	11262	broad.mit.edu	37	chr2	231174738	231174738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaggactgtcacatcccgCctgtggaagctgagaggtaa	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231174738C>T	ENST00000392045.3	+	23	2272	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	SP140_ENST00000420434.3_Missense_Mutation_p.P693S|SP140_ENST00000350136.5_Missense_Mutation_p.P589S|SP140_ENST00000417495.3_Missense_Mutation_p.P606S|SP140_ENST00000343805.6_Missense_Mutation_p.P660S|SP140_ENST00000486687.2_Missense_Mutation_p.P644S	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	720					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCACATCCCGCCTGTGGAAGC	0.547													False	0	False	2:231174738	0	T	231174738	C	T	231174738	3	4	88	1	0	0	0	0	1	0	0	0	15042	739	26	2	2365	2	SP140	2	231174738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97198	231174738	12024635	3454	11166											
SP140L	93349	broad.mit.edu	37	chr2	231235641	231235641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaagtgccagaaagccCggaagcaaggaaggaaagtg	16	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231235641C>T	ENST00000243810.6	+	6	542	c.542C>T	c.(541-543)cCg>cTg	p.P181L	SP140L_ENST00000444636.1_Missense_Mutation_p.P181L|SP140L_ENST00000458341.1_Missense_Mutation_p.P94L|SP140L_ENST00000396563.4_Missense_Mutation_p.P181L|SP140L_ENST00000415673.2_Missense_Mutation_p.P181L			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	181						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCAGAAAGCCCGGAAGCAAGG	0.532													False	0	True	2:231235641	0	T	231235641	C	T	231235641	3	4	88	1	0	0	0	0	1	0	0	0	15043	652	23	1	564	1	SP140L	2	231235641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60903	231235641	11963732	3455	11167											
SP140L	93349	broad.mit.edu	37	chr2	231264881	231264881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggtgtgccgggacggaGgggagctgttctgttgcgac	20	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231264881G>A	ENST00000243810.6	+	15	1237	c.1237G>A	c.(1237-1239)Ggg>Agg	p.G413R	SP140L_ENST00000444636.1_Missense_Mutation_p.G413R|SP140L_ENST00000396563.4_Missense_Mutation_p.G378R|SP140L_ENST00000415673.2_Missense_Mutation_p.G413R			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	413						nucleus	DNA binding|metal ion binding	p.G413W(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCGGGACGGAGGGGAGCTGTT	0.522													False	0	True	2:231264881	0	A	231264881	G	A	231264881	3	1	88	1	0	0	0	0	1	0	0	0	15043	1000	35	2	1295	2	SP140L	2	231264881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29240	231264881	11934492	3456	11168											
SP140L	93349	broad.mit.edu	37	chr2	231264950	231264950	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacatcccacctgtggaaAgtgagaagtaagtgacatgc	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231264950A>G	ENST00000243810.6	+	15	1306	c.1306A>G	c.(1306-1308)Agt>Ggt	p.S436G	SP140L_ENST00000444636.1_Missense_Mutation_p.S436G|SP140L_ENST00000396563.4_Missense_Mutation_p.S401G|SP140L_ENST00000415673.2_Missense_Mutation_p.S436G			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	436						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ACCTGTGGAAAGTGAGAAGTA	0.527													False	0	True	2:231264950	0	G	231264950	A	G	231264950	3	3	88	1	0	0	0	0	1	0	0	0	15043	72	3	4	1364	4	SP140L	2	231264950	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69	231264950	11934423	3457	11169											
SP100	6672	broad.mit.edu	37	chr2	231308927	231308927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagaaacctggtccctgTacagagagtggtgtacaatg	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231308927T>C	ENST00000264052.5	+	4	660	c.305T>C	c.(304-306)gTa>gCa	p.V102A	SP100_ENST00000341950.4_Missense_Mutation_p.V102A|SP100_ENST00000340126.4_Missense_Mutation_p.V102A|SP100_ENST00000409824.1_Missense_Mutation_p.V77A|SP100_ENST00000427101.2_Missense_Mutation_p.V77A|SP100_ENST00000409341.1_Missense_Mutation_p.V102A|SP100_ENST00000409112.1_Missense_Mutation_p.V102A|SP100_ENST00000409897.1_Missense_Mutation_p.V67A	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	102	HSR.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGGTCCCTGTACAGAGAGTG	0.398													False	0	False	2:231308927	0	C	231308927	T	C	231308927	3	2	88	1	0	0	0	0	1	0	0	0	15040	1638	57	4	319	4	SP100	2	231308927	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43977	231308927	11890446	3458	11170											
SP100	6672	broad.mit.edu	37	chr2	231379934	231379934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgaagatatggcaaaggCggacaaggcccattatgaaa	11	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231379934C>T	ENST00000264052.5	+	25	2574	c.2219C>T	c.(2218-2220)gCg>gTg	p.A740V	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	740					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATGGCAAAGGCGGACAAGGCC	0.408													False	0	False	2:231379934	0	T	231379934	C	T	231379934	3	4	88	1	0	0	0	0	1	0	0	0	15040	768	27	1	2317	1	SP100	2	231379934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71007	231379934	11819439	3459	11171											
SP100	6672	broad.mit.edu	37	chr2	231406637	231406637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcagggcccacagaagCccatgtggttaaacaaagtc	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231406637C>T	ENST00000340126.4	+	28	2465	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCCACAGAAGCCCATGTGGTT	0.458													False	0	True	2:231406637	0	T	231406637	C	T	231406637	3	4	88	1	0	0	0	0	1	0	0	0	15040	739	26	2	3094	2	SP100	2	231406637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26703	231406637	11792736	3460	11172											
CAB39	51719	broad.mit.edu	37	chr2	231657983	231657983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagaagacaaattggtaCgagaactcctactgttgaat	8	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231657983C>T	ENST00000258418.5	+	4	764	c.335C>T	c.(334-336)aCg>aTg	p.T112M	CAB39_ENST00000410084.3_Missense_Mutation_p.T112M|CAB39_ENST00000409788.3_Missense_Mutation_p.T112M	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	112					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CAAATTGGTACGAGAACTCCT	0.328													False	0	False	2:231657983	0	T	231657983	C	T	231657983	3	4	88	1	0	0	0	0	1	0	0	0	2545	536	19	1	345	1	CAB39	2	231657983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251346	231657983	11541390	3461	11173											
PSMD1	5707	broad.mit.edu	37	chr2	231927223	231927223	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctaatttctttcagagaGgttttatacgaagatgaagg	9	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231927223G>A	ENST00000308696.6	+	4	300	c.138G>A	c.(136-138)gaG>gaA	p.E46E	PSMD1_ENST00000409643.1_Silent_p.E46E|PSMD1_ENST00000373635.4_Silent_p.E46E	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	46					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CTTTCAGAGAGGTTTTATACG	0.393													False	0	True	2:231927223	0	A	231927223	G	A	231927223	2	1	88	1	0	0	0	0	0	0	0	1	12768	991	35	2		2	PSMD1	2	231927223	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269240	231927223	11272150	3462	11174											
PSMD1	5707	broad.mit.edu	37	chr2	231927275	231927275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtttgcagccttagtgGcatctaaagtattttatcac	9	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231927275G>A	ENST00000308696.6	+	4	352	c.190G>A	c.(190-192)Gca>Aca	p.A64T	PSMD1_ENST00000409643.1_Missense_Mutation_p.A64T|PSMD1_ENST00000373635.4_Missense_Mutation_p.A64T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	64					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGCCTTAGTGGCATCTAAAGT	0.418													False	0	False	2:231927275	0	A	231927275	G	A	231927275	3	1	88	1	0	0	0	0	1	0	0	0	12768	1203	42	2	204	2	PSMD1	2	231927275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	231927275	11272098	3463	11175											
HTR2B	3357	broad.mit.edu	37	chr2	231974067	231974067	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcacacaagtgatatTgtttgggttgtccacatcag	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231974067T>G	ENST00000258400.3	-	4	1122	c.610A>C	c.(610-612)Aat>Cat	p.N204H	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	204					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	CAAGTGATATTGTTTGGGTTG	0.418													False	0	False	2:231974067	0	G	231974067	T	G	231974067	3	3	88	1	0	0	0	0	1	0	0	0	7492	1812	63	4	839	4	HTR2B	2	231974067	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46792	231974067	11225306	3464	11176											
PSMD1	5707	broad.mit.edu	37	chr2	232011056	232011056	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatccagcagactgaaAtcacttgtccaaaggtgagc	9	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232011056A>C	ENST00000308696.6	+	18	2263	c.2101A>C	c.(2101-2103)Atc>Ctc	p.I701L	PSMD1_ENST00000409643.1_Missense_Mutation_p.I701L|PSMD1_ENST00000373635.4_Missense_Mutation_p.I701L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	701					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCAGACTGAAATCACTTGTCC	0.423													False	0	True	2:232011056	0	C	232011056	A	C	232011056	3	2	88	1	0	0	0	0	1	0	0	0	12768	101	4	4	2171	4	PSMD1	2	232011056	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36989	232011056	11188317	3465	11177											
PSMD1	5707	broad.mit.edu	37	chr2	232030716	232030716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccggagacctgtagataCcagcctttcaaaccagtaag	9	11	1	2	rs149102064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232030716C>T	ENST00000308696.6	+	23	2862	c.2700C>T	c.(2698-2700)taC>taT	p.Y900Y	PSMD1_ENST00000409643.1_Silent_p.Y869Y|PSMD1_ENST00000373635.4_Silent_p.Y869Y	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	900					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CCTGTAGATACCAGCCTTTCA	0.418													False	0	False	2:232030716	0	T	232030716	C	T	232030716	2	4	88	1	0	0	0	0	0	0	0	1	12768	518	18	2		2	PSMD1	2	232030716	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19660	232030716	11168657	3466	11178											
ARMC9	80210	broad.mit.edu	37	chr2	232104717	232104717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaaccagatgcggcagaGcctggcgcatagtgtggact	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232104717G>A	ENST00000349938.4	+	9	1036	c.842G>A	c.(841-843)aGc>aAc	p.S281N	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	281							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ATGCGGCAGAGCCTGGCGCAT	0.557													False	0	False	2:232104717	0	A	232104717	G	A	232104717	3	1	88	1	0	0	0	0	1	0	0	0	962	971	34	2	872	2	ARMC9	2	232104717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74001	232104717	11094656	3467	11179											
B3GNT7	93010	broad.mit.edu	37	chr2	232263043	232263043	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctacggcgacatcctgCagtggggctttctcgacacc	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232263043C>T	ENST00000287590.5	+	2	874	c.613C>T	c.(613-615)Cag>Tag	p.Q205*		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	205					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGACATCCTGCAGTGGGGCTT	0.602													False	0	False	2:232263043	0	T	232263043	C	T	232263043	4	4	88	1	0	0	0	0	0	1	0	0	1266	711	25	2	619	2	B3GNT7	2	232263043	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158326	232263043	10936330	3468	11180											
NMUR1	10316	broad.mit.edu	37	chr2	232392906	232392906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtatctggacctggctgCtgcagagcccctgcccttgg	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232392906C>A	ENST00000305141.4	-	2	959	c.826G>T	c.(826-828)Gca>Tca	p.A276S		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	276					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GACCTGGCTGCTGCAGAGCCC	0.637													False	0	False	2:232392906	0	A	232392906	C	A	232392906	3	1	88	1	0	0	0	0	1	0	0	0	10574	797	28	3	462	3	NMUR1	2	232392906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129863	232392906	10806467	3469	11181											
C2orf57	165100	broad.mit.edu	37	chr2	232458282	232458282	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaggccccacaccctgaagCtgaagctttaccatctgatg	8	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232458282C>A	ENST00000313965.2	+	1	708	c.620C>A	c.(619-621)gCt>gAt	p.A207D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	207										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CACCCTGAAGCTGAAGCTTTA	0.577													False	0	True	2:232458282	0	A	232458282	C	A	232458282	3	1	88	1	0	0	0	0	1	0	0	0	2194	797	28	3	622	3	C2orf57	2	232458282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65376	232458282	10741091	3470	11182											
ALPP	250	broad.mit.edu	37	chr2	233244473	233244473	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgacctctgacacccttaGggaagtcagtgggagtggta	13	9	2	2	rs1130343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244473G>T	ENST00000392027.2	+	5	753		c.e5-1		AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental							anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GACACCCTTAGGGAAGTCAGT	0.617													False	0	True	2:233244473	0	T	233244473	G	T	233244473	5	4	88	1	0	0	0	0	0	0	1	0	548	1014	35	3	502	3	ALPP	2	233244473	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	786191	233244473	9954900	3471	11183											
ALPP	250	broad.mit.edu	37	chr2	233244614	233244614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggggtgccaggacatcGctacgcagctcatctccaac	12	13	2	0	rs138033708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244614G>A	ENST00000392027.2	+	5	894	c.625G>A	c.(625-627)Gct>Act	p.A209T	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	209						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCAGGACATCGCTACGCAGCT	0.682													False	0	False	2:233244614	0	A	233244614	G	A	233244614	3	1	88	1	0	0	0	0	1	0	0	0	548	1087	38	1	643	1	ALPP	2	233244614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141	233244614	9954759	3472	11184											
ALPP	250	broad.mit.edu	37	chr2	233244978	233244978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgactacagccaaggtgGgaccaggctggacgggaaga	16	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244978G>A	ENST00000392027.2	+	6	1009	c.740G>A	c.(739-741)gGg>gAg	p.G247E	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	247						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.G247V(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AGCCAAGGTGGGACCAGGCTG	0.627													False	0	True	2:233244978	0	A	233244978	G	A	233244978	3	1	88	1	0	0	0	0	1	0	0	0	548	1232	43	2	762	2	ALPP	2	233244978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	364	233244978	9954395	3473	11185											
ALPPL2	251	broad.mit.edu	37	chr2	233273059	233273059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgactacagccaaggtgGgaccaggctggacgggaaga	16	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233273059G>A	ENST00000295453.3	+	6	783	c.731G>A	c.(730-732)gGg>gAg	p.G244E		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	244					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	AGCCAAGGTGGGACCAGGCTG	0.617													False	0	True	2:233273059	0	A	233273059	G	A	233273059	3	1	88	1	0	0	0	0	1	0	0	0	549	1232	43	2	753	2	ALPPL2	2	233273059	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28081	233273059	9926314	3474	11186											
ALPPL2	251	broad.mit.edu	37	chr2	233274394	233274394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgcacctggttcacggcGtgcaggagcagaccttcata	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274394G>A	ENST00000295453.3	+	11	1463	c.1411G>A	c.(1411-1413)Gtg>Atg	p.V471M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	471					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GGTTCACGGCGTGCAGGAGCA	0.721													False	0	False	2:233274394	0	A	233274394	G	A	233274394	3	1	88	1	0	0	0	0	1	0	0	0	549	1145	40	1	1453	1	ALPPL2	2	233274394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1335	233274394	9924979	3475	11187											
ALPPL2	251	broad.mit.edu	37	chr2	233274417	233274417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagcagaccttcatagcGcacgtcatggccttcgccgc	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274417G>A	ENST00000295453.3	+	11	1486	c.1434G>A	c.(1432-1434)gcG>gcA	p.A478A		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	478					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CCTTCATAGCGCACGTCATGG	0.751													False	0	False	2:233274417	0	A	233274417	G	A	233274417	2	1	88	1	0	0	0	0	0	0	0	1	549	1074	38	1		1	ALPPL2	2	233274417	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	233274417	9924956	3476	11188											
ALPPL2	251	broad.mit.edu	37	chr2	233274433	233274433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcgcacgtcatggccttcGccgcctgcctggagccctac	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274433G>A	ENST00000295453.3	+	11	1502	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	484					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CATGGCCTTCGCCGCCTGCCT	0.751													False	0	False	2:233274433	0	A	233274433	G	A	233274433	3	1	88	1	0	0	0	0	1	0	0	0	549	1087	38	1	1492	1	ALPPL2	2	233274433	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16	233274433	9924940	3477	11189											
ALPI	248	broad.mit.edu	37	chr2	233321075	233321075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctgaggaggagaacccGgccttctggaaccgccaggc	14	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321075G>A	ENST00000295463.3	+	2	161	c.84G>A	c.(82-84)ccG>ccA	p.P28P		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	28					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGGAGAACCCGGCCTTCTGGA	0.622													False	0	True	2:233321075	0	A	233321075	G	A	233321075	2	1	88	1	0	0	0	0	0	0	0	1	543	1103	39	1		1	ALPI	2	233321075	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46642	233321075	9878298	3478	11190											
ALPI	248	broad.mit.edu	37	chr2	233321314	233321314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggtgcccacggtgacagCcaccaggatcctaaaggggc	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321314C>T	ENST00000295463.3	+	3	286	c.209C>T	c.(208-210)gCc>gTc	p.A70V		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	70					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACGGTGACAGCCACCAGGATC	0.627													False	0	False	2:233321314	0	T	233321314	C	T	233321314	3	4	88	1	0	0	0	0	1	0	0	0	543	739	26	2	219	2	ALPI	2	233321314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	233321314	9878059	3479	11191											
ALPI	248	broad.mit.edu	37	chr2	233321938	233321938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgcacacacagtgaaccGcaactggtactcagatgctg	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321938G>A	ENST00000295463.3	+	5	631	c.554G>A	c.(553-555)cGc>cAc	p.R185H		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	185					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACAGTGAACCGCAACTGGTAC	0.607													False	0	False	2:233321938	0	A	233321938	G	A	233321938	3	1	88	1	0	0	0	0	1	0	0	0	543	1087	38	1	572	1	ALPI	2	233321938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	624	233321938	9877435	3480	11192											
ECEL1	9427	broad.mit.edu	37	chr2	233346332	233346332	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggttccctgagcggtcatActggccccctgtgggcagtg	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233346332A>G	ENST00000304546.1	-	14	2083	c.1873T>C	c.(1873-1875)Tat>Cat	p.Y625H	ECEL1_ENST00000409941.1_Missense_Mutation_p.Y623H	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	625					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAGCGGTCATACTGGCCCCCT	0.647													False	0	False	2:233346332	0	G	233346332	A	G	233346332	3	3	88	1	0	0	0	0	1	0	0	0	4921	391	14	4	474	4	ECEL1	2	233346332	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24394	233346332	9853041	3481	11193											
ECEL1	9427	broad.mit.edu	37	chr2	233346501	233346501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaggcctcaccccagtcgtCgtagccgtgggtcagctcat	11	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233346501C>T	ENST00000304546.1	-	13	2065	c.1855G>A	c.(1855-1857)Gac>Aac	p.D619N	ECEL1_ENST00000409941.1_Missense_Mutation_p.D617N	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	619					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCCAGTCGTCGTAGCCGTGG	0.667													False	0	False	2:233346501	0	T	233346501	C	T	233346501	3	4	88	1	0	0	0	0	1	0	0	0	4921	884	31	1	496	1	ECEL1	2	233346501	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169	233346501	9852872	3482	11194											
ECEL1	9427	broad.mit.edu	37	chr2	233349192	233349192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagccataccggtggggtgTggagcggatgagctgcgaca	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233349192T>C	ENST00000304546.1	-	6	1384	c.1174A>G	c.(1174-1176)Aca>Gca	p.T392A	ECEL1_ENST00000409941.1_Missense_Mutation_p.T392A	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	392					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGGTGGGGTGTGGAGCGGATG	0.587													False	0	False	2:233349192	0	C	233349192	T	C	233349192	3	2	88	1	0	0	0	0	1	0	0	0	4921	1696	59	4	1205	4	ECEL1	2	233349192	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2691	233349192	9850181	3483	11195											
CHRND	1144	broad.mit.edu	37	chr2	233394759	233394759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctacctcatcatccgcCgcaagcccctcttctacatc	3	20	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233394759C>T	ENST00000258385.3	+	7	762	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Missense_Mutation_p.P207L|CHRND_ENST00000543200.1_Missense_Mutation_p.R229C	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	244					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CATCATCCGCCGCAAGCCCCT	0.612													False	0	False	2:233394759	0	T	233394759	C	T	233394759	3	4	88	1	0	0	0	0	1	0	0	0	3417	652	23	1	756	1	CHRND	2	233394759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45567	233394759	9804614	3484	11196											
KCNJ13	3769	broad.mit.edu	37	chr2	233635952	233635952	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattccccaagcatctcgaaGatatgcaagacctctttgag	8	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233635952G>A	ENST00000233826.3	-	2	260	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F	GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000373563.4_Intron|KCNJ13_ENST00000409779.1_Missense_Mutation_p.L41F|GIGYF2_ENST00000452341.2_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.L41F	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	41						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GCATCTCGAAGATATGCAAGA	0.483													False	0	False	2:233635952	0	A	233635952	G	A	233635952	3	1	88	1	0	0	0	0	1	0	0	0	8097	942	33	2	969	2	KCNJ13	2	233635952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241193	233635952	9563421	3485	11197											
GIGYF2	26058	broad.mit.edu	37	chr2	233715097	233715097	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaaaaagcagaagatggtCcgagcagatcccagtttatt	10	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233715097C>T	ENST00000373566.3	+	29	4073	c.3876C>T	c.(3874-3876)gtC>gtT	p.V1292V	GIGYF2_ENST00000409451.3_Silent_p.V1291V|GIGYF2_ENST00000409196.3_Silent_p.V1264V|GIGYF2_ENST00000409480.1_Silent_p.V1292V|GIGYF2_ENST00000409547.1_Silent_p.V1270V|GIGYF2_ENST00000373563.4_Silent_p.V1270V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1270					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGAAGATGGTCCGAGCAGATC	0.458													False	0	False	2:233715097	0	T	233715097	C	T	233715097	2	4	88	1	0	0	0	0	0	0	0	1	6423	842	30	2		2	GIGYF2	2	233715097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79145	233715097	9484276	3486	11198											
INPP5D	3635	broad.mit.edu	37	chr2	234085994	234085994	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtgtcagtcttatggTgagttcaaacactggggaaa	14	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234085994T>C	ENST00000359570.5	+	20	2035		c.e20+2		INPP5D_ENST00000450745.1_Splice_Site|INPP5D_ENST00000538935.1_Splice_Site|INPP5D_ENST00000455936.2_Splice_Site			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa						apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGTCTTATGGTGAGTTCAAAC	0.488													False	0	False	2:234085994	0	C	234085994	T	C	234085994	5	2	88	1	0	0	0	0	0	0	1	0	7806	1710	59	4	1651	4	INPP5D	2	234085994	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	370897	234085994	9113379	3487	11199											
DGKD	8527	broad.mit.edu	37	chr2	234299129	234299129	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtcaacaacagttttacGgtaagattcctcagtcatgc	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234299129G>A	ENST00000264057.2	+	3	360	c.348G>A	c.(346-348)acG>acA	p.T116T	DGKD_ENST00000409813.3_Splice_Site_p.T72T|AC019221.4_ENST00000442524.1_RNA	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	116	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACAGTTTTACGGTAAGATTCC	0.398													False	0	False	2:234299129	0	A	234299129	G	A	234299129	5	1	88	1	0	0	0	0	0	0	1	0	4497	1130	39	1	382	1	DGKD	2	234299129	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	213135	234299129	8900244	3488	11200											
DGKD	8527	broad.mit.edu	37	chr2	234343475	234343475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggtacgcctgttcccacGcgaggccgacctactgcaat	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234343475G>A	ENST00000264057.2	+	5	526	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	DGKD_ENST00000409813.3_Missense_Mutation_p.A128T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	172					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CTGTTCCCACGCGAGGCCGAC	0.562													False	0	False	2:234343475	0	A	234343475	G	A	234343475	3	1	88	1	0	0	0	0	1	0	0	0	4497	1087	38	1	556	1	DGKD	2	234343475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44346	234343475	8855898	3489	11201											
USP40	55230	broad.mit.edu	37	chr2	234407224	234407224	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaggctctccagcttcataGcaccaatccatttttcgtaa	5	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234407224G>T	ENST00000251722.6	-	23	2799	c.2682C>A	c.(2680-2682)tgC>tgA	p.C894*	USP40_ENST00000409945.1_Nonsense_Mutation_p.C70*|USP40_ENST00000450966.1_Nonsense_Mutation_p.C906*|USP40_ENST00000427112.2_Nonsense_Mutation_p.C894*			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	894					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CAGCTTCATAGCACCAATCCA	0.353													False	0	False	2:234407224	0	T	234407224	G	T	234407224	4	4	88	1	0	0	0	0	0	1	0	0	17156	963	34	3	1065	3	USP40	2	234407224	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63749	234407224	8792149	3490	11202											
USP40	55230	broad.mit.edu	37	chr2	234436099	234436099	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagtttttcttttatcaAaggtcaaatcccacacgctt	4	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234436099A>C	ENST00000251722.6	-	13	1793	c.1676T>G	c.(1675-1677)tTt>tGt	p.F559C	USP40_ENST00000450966.1_Missense_Mutation_p.F571C|USP40_ENST00000427112.2_Missense_Mutation_p.F559C			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	559					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TCTTTTATCAAAGGTCAAATC	0.433													False	0	True	2:234436099	0	C	234436099	A	C	234436099	3	2	88	1	0	0	0	0	1	0	0	0	17156	14	1	4	2111	4	USP40	2	234436099	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28875	234436099	8763274	3491	11203											
UGT1A1	0	broad.mit.edu	37	chr2	234526586	234526586	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgcacagtgaagacttactCaacctcatacactctggagg	8	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234526586C>T	ENST00000373450.4	+	1	296	c.233C>T	c.(232-234)tCa>tTa	p.S78L		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.S78*(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AAGACTTACTCAACCTCATAC	0.463													False	0	False	2:234526586	0	T	234526586	C	T	234526586	3	4	88	1	0	0	0	0	1	0	0	0	17028	838	29	2		2	UGT1A1	2	234526586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90487	234526586	8672787	3492	11204											
UGT1A4	0	broad.mit.edu	37	chr2	234627942	234627942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgttaacctctgtggggCggtgctggctaagtacctgt	13	12	1	0	rs148565852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234627942C>T	ENST00000373409.3	+	1	519	c.476C>T	c.(475-477)gCg>gTg	p.A159V	UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		CTCTGTGGGGCGGTGCTGGCT	0.488													False	0	True	2:234627942	0	T	234627942	C	T	234627942	3	4	88	1	0	0	0	0	1	0	0	0	17031	768	27	1	478	1	UGT1A4	2	234627942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101356	234627942	8571431	3493	11205											
TRPM8	79054	broad.mit.edu	37	chr2	234891813	234891813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtggatattccgttcGgtcatctacgagccctacct	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234891813G>A	ENST00000324695.4	+	20	2746	c.2706G>A	c.(2704-2706)tcG>tcA	p.S902S	TRPM8_ENST00000433712.2_Silent_p.S480S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	902						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TATTCCGTTCGGTCATCTACG	0.572													False	0	False	2:234891813	0	A	234891813	G	A	234891813	2	1	88	1	0	0	0	0	0	0	0	1	16675	1103	39	1		1	TRPM8	2	234891813	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263871	234891813	8307560	3494	11206											
ARL4C	10123	broad.mit.edu	37	chr2	235404671	235404671	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attaccgcttcttcttctgcTtgagggacttcctgcgtttc	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:235404671T>G	ENST00000390645.2	-	1	1026	c.560A>C	c.(559-561)aAg>aCg	p.K187T	ARL4C_ENST00000339728.3_Missense_Mutation_p.K187T	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	187					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		CTTCTTCTGCTTGAGGGACTT	0.577													False	0	False	2:235404671	0	G	235404671	T	G	235404671	3	3	88	1	0	0	0	0	1	0	0	0	941	1609	56	4	22	4	ARL4C	2	235404671	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	512858	235404671	7794702	3495	11207											
SH3BP4	23677	broad.mit.edu	37	chr2	235961352	235961352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagcagatggacgcctaCgagtctccccaccgggacag	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:235961352C>T	ENST00000409212.1	+	5	3132	c.2625C>T	c.(2623-2625)taC>taT	p.Y875Y	SH3BP4_ENST00000344528.4_Silent_p.Y875Y|SH3BP4_ENST00000392011.2_Silent_p.Y875Y			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	875					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACGCCTACGAGTCTCCCC	0.652													False	0	False	2:235961352	0	T	235961352	C	T	235961352	2	4	88	1	0	0	0	0	0	0	0	1	14327	547	19	1		1	SH3BP4	2	235961352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	556681	235961352	7238021	3496	11208											
AGAP1	116987	broad.mit.edu	37	chr2	236626223	236626223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aattgtgggtaacttggccaGcggcaagtctgccctggtgc	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236626223G>T	ENST00000304032.8	+	3	825	c.245G>T	c.(244-246)aGc>aTc	p.S82I	AGAP1_ENST00000409538.1_Missense_Mutation_p.S347I|AGAP1_ENST00000336665.5_Missense_Mutation_p.S82I|AGAP1_ENST00000409457.1_Missense_Mutation_p.S82I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.		S -> G (in an autistic patient).		protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AACTTGGCCAGCGGCAAGTCT	0.478													False	0	False	2:236626223	0	T	236626223	G	T	236626223	3	4	88	1	0	0	0	0	1	0	0	0	366	971	34	3	255	3	AGAP1	2	236626223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	664871	236626223	6573150	3497	11209											
AGAP1	116987	broad.mit.edu	37	chr2	236945321	236945321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagccatcgagagccagatcCtggccagcctgcagtcgtgc	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236945321C>A	ENST00000304032.8	+	14	2342	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M	AGAP1_ENST00000409538.1_Missense_Mutation_p.L800M|AGAP1_ENST00000336665.5_Missense_Mutation_p.L535M|AGAP1_ENST00000428334.2_Missense_Mutation_p.L427M	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GAGCCAGATCCTGGCCAGCCT	0.612													False	0	False	2:236945321	0	A	236945321	C	A	236945321	3	1	88	1	0	0	0	0	1	0	0	0	366	680	24	3	1816	3	AGAP1	2	236945321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319098	236945321	6254052	3498	11210											
GBX2	2637	broad.mit.edu	37	chr2	237075079	237075079	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttgccctcggacagccccGactgaaagcaaaaccaaacg	8	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237075079G>A	ENST00000306318.4	-	2	922	c.525C>T	c.(523-525)gtC>gtT	p.V175V	GBX2_ENST00000551105.1_Splice_Site_p.R188W|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	175				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGACAGCCCCGACTGAAAGCA	0.567													False	0	True	2:237075079	0	A	237075079	G	A	237075079	5	1	88	1	0	0	0	0	0	0	1	0	6324	1072	37	1	525	1	GBX2	2	237075079	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129758	237075079	6124294	3499	11211											
GBX2	2637	broad.mit.edu	37	chr2	237076102	237076102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgactcaccgagcgaagcCtgcaccgtctcggccgcgga	13	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237076102C>A	ENST00000306318.4	-	1	910	c.513G>T	c.(511-513)caG>caT	p.Q171H	GBX2_ENST00000551105.1_Missense_Mutation_p.Q171H|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	171				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGAGCGAAGCCTGCACCGTCT	0.756													False	0	False	2:237076102	0	A	237076102	C	A	237076102	3	1	88	1	0	0	0	0	1	0	0	0	6324	680	24	3	541	3	GBX2	2	237076102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1023	237076102	6123271	3500	11212											
GBX2	2637	broad.mit.edu	37	chr2	237076320	237076320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgagcgtagaggtgagcgCcatgccctgcgccaggctgg	16	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237076320C>T	ENST00000306318.4	-	1	692	c.295G>A	c.(295-297)Gcg>Acg	p.A99T	GBX2_ENST00000551105.1_Missense_Mutation_p.A99T|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	99				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GAGGTGAGCGCCATGCCCTGC	0.746													False	0	False	2:237076320	0	T	237076320	C	T	237076320	3	4	88	1	0	0	0	0	1	0	0	0	6324	739	26	2	759	2	GBX2	2	237076320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	237076320	6123053	3501	11213											
IQCA1	79781	broad.mit.edu	37	chr2	237272537	237272537	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtttcggtgcagatggcatgGaccagcattttcttccctac	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237272537G>T	ENST00000409907.3	-	15	2029	c.1755C>A	c.(1753-1755)gtC>gtA	p.V585V	IQCA1_ENST00000309507.5_Silent_p.V582V|IQCA1_ENST00000431676.2_Silent_p.V544V	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	585							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AGATGGCATGGACCAGCATTT	0.512													False	0	False	2:237272537	0	T	237272537	G	T	237272537	2	4	88	1	0	0	0	0	0	0	0	1	7852	1161	41	3		3	IQCA1	2	237272537	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196217	237272537	5926836	3502	11214											
IQCA1	79781	broad.mit.edu	37	chr2	237406070	237406070	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttcaatcatcttctgaggCtctttatcgagtaaagcacc	8	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237406070C>A	ENST00000409907.3	-	2	346	c.72G>T	c.(70-72)gaG>gaT	p.E24D	IQCA1_ENST00000309507.5_Missense_Mutation_p.E20D|IQCA1_ENST00000431676.2_Missense_Mutation_p.E24D	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	24							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCTTCTGAGGCTCTTTATCGA	0.383													False	0	False	2:237406070	0	A	237406070	C	A	237406070	3	1	88	1	0	0	0	0	1	0	0	0	7852	796	28	3	2468	3	IQCA1	2	237406070	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133533	237406070	5793303	3503	11215											
COPS8	10920	broad.mit.edu	37	chr2	237998518	237998518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgcaggcaaattctgaacTtgggggaatttggtcagtag	13	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237998518T>C	ENST00000354371.2	+	4	865	c.212T>C	c.(211-213)cTt>cCt	p.L71P	COPS8_ENST00000392008.2_Missense_Mutation_p.L22P|COPS8_ENST00000409334.1_Missense_Mutation_p.L71P|COPS8_ENST00000409629.1_Missense_Mutation_p.L71P	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	71	PCI.				cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		AATTCTGAACTTGGGGGAATT	0.408													False	0	False	2:237998518	0	C	237998518	T	C	237998518	3	2	88	1	0	0	0	0	1	0	0	0	3763	1609	56	4	226	4	COPS8	2	237998518	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	592448	237998518	5200855	3504	11216											
COL6A3	1293	broad.mit.edu	37	chr2	238245116	238245116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcttcgtcgtagtcaccGgcttcgttgtcgtcactggg	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238245116G>A	ENST00000295550.4	-	40	9079	c.8627C>T	c.(8626-8628)cCg>cTg	p.P2876L	COL6A3_ENST00000347401.3_Missense_Mutation_p.P2675L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2676L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2670L|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2269L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2670L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2876	Nonhelical region.|Thr-rich.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTAGTCACCGGCTTCGTTGT	0.448													False	0	False	2:238245116	0	A	238245116	G	A	238245116	3	1	88	1	0	0	0	0	1	0	0	0	3724	1116	39	1	926	1	COL6A3	2	238245116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246598	238245116	4954257	3505	11217											
COL6A3	1293	broad.mit.edu	37	chr2	238249523	238249523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccttcacaggtggcatgCtggcattgtccacggactca	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238249523C>T	ENST00000295550.4	-	38	8488	c.8036G>A	c.(8035-8037)aGc>aAc	p.S2679N	COL6A3_ENST00000347401.3_Missense_Mutation_p.S2478N|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2479N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2473N|COL6A3_ENST00000472056.1_Missense_Mutation_p.S2072N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2473N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2679	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGTGGCATGCTGGCATTGTC	0.582													False	0	False	2:238249523	0	T	238249523	C	T	238249523	3	4	88	1	0	0	0	0	1	0	0	0	3724	797	28	2	1525	2	COL6A3	2	238249523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4407	238249523	4949850	3506	11218											
COL6A3	1293	broad.mit.edu	37	chr2	238253142	238253142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagccactttcctcattaGgaatccgttcctcacacgct	5	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238253142G>T	ENST00000295550.4	-	36	7971	c.7519C>A	c.(7519-7521)Cta>Ata	p.L2507I	COL6A3_ENST00000347401.3_Missense_Mutation_p.L2306I|COL6A3_ENST00000346358.4_Missense_Mutation_p.L2307I|COL6A3_ENST00000353578.4_Missense_Mutation_p.L2301I|COL6A3_ENST00000472056.1_Missense_Mutation_p.L1900I|COL6A3_ENST00000409809.1_Missense_Mutation_p.L2301I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2507	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCCTCATTAGGAATCCGTTC	0.522													False	0	False	2:238253142	0	T	238253142	G	T	238253142	3	4	88	1	0	0	0	0	1	0	0	0	3724	991	35	3	2050	3	COL6A3	2	238253142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3619	238253142	4946231	3507	11219											
COL6A3	1293	broad.mit.edu	37	chr2	238274604	238274604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggcgtccaccttggactCgaagcccttctgggccacaa	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238274604C>T	ENST00000295550.4	-	12	6027	c.5575G>A	c.(5575-5577)Gag>Aag	p.E1859K	COL6A3_ENST00000347401.3_Missense_Mutation_p.E1658K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1659K|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1653K|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1252K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1653K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1859	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTTGGACTCGAAGCCCTTC	0.542													False	0	False	2:238274604	0	T	238274604	C	T	238274604	3	4	88	1	0	0	0	0	1	0	0	0	3724	893	31	1	4090	1	COL6A3	2	238274604	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21462	238274604	4924769	3508	11220											
COL6A3	1293	broad.mit.edu	37	chr2	238283139	238283139	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccctctcagagatgacctGttggacggtccccagctggc	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238283139G>C	ENST00000295550.4	-	8	4047	c.3595C>G	c.(3595-3597)Cag>Gag	p.Q1199E	COL6A3_ENST00000392004.3_Missense_Mutation_p.Q993E|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q998E|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q999E|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q993E|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q592E|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q792E|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q993E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1199	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGATGACCTGTTGGACGGTC	0.617													False	0	False	2:238283139	0	C	238283139	G	C	238283139	3	2	88	1	0	0	0	0	1	0	0	0	3724	1386	48	5	6133	5	COL6A3	2	238283139	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8535	238283139	4916234	3509	11221											
COL6A3	1293	broad.mit.edu	37	chr2	238285711	238285711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacttcacaaaaatgtacCtctgtgcatagtccagcgcg	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238285711C>T	ENST00000295550.4	-	7	3226	c.2774G>A	c.(2773-2775)aGg>aAg	p.R925K	COL6A3_ENST00000392004.3_Missense_Mutation_p.R719K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R724K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R725K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R719K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R318K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R518K|COL6A3_ENST00000409809.1_Missense_Mutation_p.R719K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	925	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAAAATGTACCTCTGTGCATA	0.542													False	0	False	2:238285711	0	T	238285711	C	T	238285711	3	4	88	1	0	0	0	0	1	0	0	0	3724	681	24	2	6958	2	COL6A3	2	238285711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2572	238285711	4913662	3510	11222											
MLPH	79083	broad.mit.edu	37	chr2	238449001	238449001	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttctgtcagggtctaggtgCtggagtgcgcacggaggccg	18	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238449001C>A	ENST00000264605.3	+	10	1409	c.1115C>A	c.(1114-1116)gCt>gAt	p.A372D	MLPH_ENST00000445024.2_Missense_Mutation_p.A372D|MLPH_ENST00000338530.4_Missense_Mutation_p.A344D|MLPH_ENST00000410032.1_Missense_Mutation_p.A229D|MLPH_ENST00000409373.1_Missense_Mutation_p.A304D|MLPH_ENST00000468178.1_3'UTR	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	372							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GGTCTAGGTGCTGGAGTGCGC	0.632													False	0	False	2:238449001	0	A	238449001	C	A	238449001	3	1	88	1	0	0	0	0	1	0	0	0	9700	797	28	3	1149	3	MLPH	2	238449001	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163290	238449001	4750372	3511	11223											
LRRFIP1	9208	broad.mit.edu	37	chr2	238632193	238632193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctttcttctgacagtcGcagcctgacttggagtatgg	10	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238632193G>A	ENST00000308482.9	+	7	417	c.348G>A	c.(346-348)tcG>tcA	p.S116S	LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	0					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TCTGACAGTCGCAGCCTGACT	0.403													False	0	False	2:238632193	0	A	238632193	G	A	238632193	2	1	88	1	0	0	0	0	0	0	0	1	9089	1074	38	1		1	LRRFIP1	2	238632193	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183192	238632193	4567180	3512	11224											
LRRFIP1	9208	broad.mit.edu	37	chr2	238688109	238688109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagctcgaggtgagcaaCggccacttagtgaagcgtct	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238688109C>T	ENST00000308482.9	+	24	1926	c.1857C>T	c.(1855-1857)aaC>aaT	p.N619N		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	306					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGGTGAGCAACGGCCACTTAG	0.483													False	0	False	2:238688109	0	T	238688109	C	T	238688109	2	4	88	1	0	0	0	0	0	0	0	1	9089	535	19	1		1	LRRFIP1	2	238688109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55916	238688109	4511264	3513	11225											
RBM44	375316	broad.mit.edu	37	chr2	238726960	238726960	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtacagtcacaattaatcaGacagtggacgttagcactga	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238726960G>A	ENST00000316997.4	+	3	1533	c.1401G>A	c.(1399-1401)caG>caA	p.Q467Q	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Silent_p.Q467Q	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	466							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CAATTAATCAGACAGTGGACG	0.398													False	0	False	2:238726960	0	A	238726960	G	A	238726960	2	1	88	1	0	0	0	0	0	0	0	1	13217	933	33	2		2	RBM44	2	238726960	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38851	238726960	4472413	3514	11226											
SCLY	51540	broad.mit.edu	37	chr2	238990418	238990418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacatcctcgcggcagtcCgcccgaccacacgcctcgtg	10	19	0	0	rs140009501		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238990418C>T	ENST00000254663.6	+	5	719	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	SCLY_ENST00000429612.2_Intron|SCLY_ENST00000555827.1_Missense_Mutation_p.R185C|SCLY_ENST00000422984.2_Missense_Mutation_p.R91C|SCLY_ENST00000373332.3_Missense_Mutation_p.R103C|SCLY_ENST00000409736.2_Missense_Mutation_p.R185C	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	185					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CGCGGCAGTCCGCCCGACCAC	0.577													False	0	False	2:238990418	0	T	238990418	C	T	238990418	3	4	88	1	0	0	0	0	1	0	0	0	13988	652	23	1	571	1	SCLY	2	238990418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	263458	238990418	4208955	3515	11227											
SCLY	51540	broad.mit.edu	37	chr2	238990750	238990750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgggtggcagctgggctacCtcccatcctcgtgcacacgg	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238990750C>A	ENST00000254663.6	+	6	843	c.701C>A	c.(700-702)cCt>cAt	p.P234H	SCLY_ENST00000429612.2_Intron|SCLY_ENST00000555827.1_Missense_Mutation_p.P226H|SCLY_ENST00000422984.2_Missense_Mutation_p.P132H|SCLY_ENST00000373332.3_Missense_Mutation_p.P144H|SCLY_ENST00000409736.2_Missense_Mutation_p.P226H	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	226					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		GCTGGGCTACCTCCCATCCTC	0.587													False	0	False	2:238990750	0	A	238990750	C	A	238990750	3	1	88	1	0	0	0	0	1	0	0	0	13988	681	24	3	699	3	SCLY	2	238990750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332	238990750	4208623	3516	11228											
ESPNL	339768	broad.mit.edu	37	chr2	239009107	239009107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaaggatggggatgtggCgacgttggagcggctgctgg	20	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239009107C>T	ENST00000343063.3	+	1	310	c.47C>T	c.(46-48)gCg>gTg	p.A16V	ESPNL_ENST00000409169.1_Missense_Mutation_p.A16V	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	16										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGGATGTGGCGACGTTGGAG	0.701													False	0	False	2:239009107	0	T	239009107	C	T	239009107	3	4	88	1	0	0	0	0	1	0	0	0	5287	768	27	1	49	1	ESPNL	2	239009107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18357	239009107	4190266	3517	11229											
ESPNL	339768	broad.mit.edu	37	chr2	239016582	239016582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctggggtgggacccccCtccacgacgcagcagagaac	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239016582C>T	ENST00000343063.3	+	4	1086	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	ESPNL_ENST00000409169.1_Missense_Mutation_p.L275F	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	275										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGGACCCCCCTCCACGACGC	0.642													False	0	True	2:239016582	0	T	239016582	C	T	239016582	3	4	88	1	0	0	0	0	1	0	0	0	5287	681	24	2	837	2	ESPNL	2	239016582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7475	239016582	4182791	3518	11230											
ESPNL	339768	broad.mit.edu	37	chr2	239040166	239040166	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtcccgcctgggatacGgagcctggccgcaagtcagg	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239040166G>T	ENST00000343063.3	+	9	3074	c.2811G>T	c.(2809-2811)acG>acT	p.T937T	ESPNL_ENST00000409506.1_Silent_p.T569T|ESPNL_ENST00000409169.1_Silent_p.T893T|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	937										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTGGGATACGGAGCCTGGCC	0.726													False	0	False	2:239040166	0	T	239040166	G	T	239040166	2	4	88	1	0	0	0	0	0	0	0	1	5287	1103	39	3		3	ESPNL	2	239040166	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23584	239040166	4159207	3519	11231											
KLHL30	377007	broad.mit.edu	37	chr2	239049856	239049856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgggcgtggctgccaaggCctgggccttcctgcgagaga	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239049856C>A	ENST00000409223.1	+	2	568	c.461C>A	c.(460-462)gCc>gAc	p.A154D	KLHL30_ENST00000305959.4_Missense_Mutation_p.A136D			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	154	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGCCAAGGCCTGGGCCTTC	0.657													False	0	False	2:239049856	0	A	239049856	C	A	239049856	3	1	88	1	0	0	0	0	1	0	0	0	8434	739	26	3	463	3	KLHL30	2	239049856	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9690	239049856	4149517	3520	11232											
KLHL30	377007	broad.mit.edu	37	chr2	239054470	239054470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggggagatctacgttatcGgcggtgaggccttcctctcc	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239054470G>A	ENST00000409223.1	+	5	1254	c.1147G>A	c.(1147-1149)Ggc>Agc	p.G383S	KLHL30_ENST00000305959.4_Missense_Mutation_p.G365S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	383										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTACGTTATCGGCGGTGAGGC	0.657													False	0	False	2:239054470	0	A	239054470	G	A	239054470	3	1	88	1	0	0	0	0	1	0	0	0	8434	1116	39	1	1161	1	KLHL30	2	239054470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4614	239054470	4144903	3521	11233											
KLHL30	377007	broad.mit.edu	37	chr2	239056536	239056536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacggacagctggacgccCgtcagcccggccctcaaata	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239056536C>T	ENST00000409223.1	+	6	1319	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	KLHL30_ENST00000305959.4_Silent_p.P386P			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	404										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGGACGCCCGTCAGCCCGG	0.687													False	0	True	2:239056536	0	T	239056536	C	T	239056536	2	4	88	1	0	0	0	0	0	0	0	1	8434	639	23	1		1	KLHL30	2	239056536	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2066	239056536	4142837	3522	11234											
KLHL30	377007	broad.mit.edu	37	chr2	239059487	239059487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagcctgcatgagaatggCgcgctggtgccactgggtga	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239059487C>T	ENST00000409223.1	+	8	1625	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G	KLHL30_ENST00000305959.4_Silent_p.G488G			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	506										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ATGAGAATGGCGCGCTGGTGC	0.662													False	0	True	2:239059487	0	T	239059487	C	T	239059487	2	4	88	1	0	0	0	0	0	0	0	1	8434	755	27	1		1	KLHL30	2	239059487	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2951	239059487	4139886	3523	11235											
HES6	55502	broad.mit.edu	37	chr2	239147804	239147804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcgtcgatggcctggcaCgtggacacgaacgtgtgcac	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239147804C>T	ENST00000409160.3	-	3	706	c.574G>A	c.(574-576)Gtg>Atg	p.V192M	HES6_ENST00000409182.1_Silent_p.T84T|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409002.3_Silent_p.T111T|HES6_ENST00000272937.5_Silent_p.T113T|HES6_ENST00000409574.1_Missense_Mutation_p.R100H	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	Q96HZ4	HES6_HUMAN	hes family bHLH transcription factor 6	0					cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGGCCTGGCACGTGGACACGA	0.672													False	0	False	2:239147804	0	T	239147804	C	T	239147804	3	4	88	1	0	0	0	0	1	0	0	0	7117	523	19	1	339	1	HES6	2	239147804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88317	239147804	4051569	3524	11236											
PER2	8864	broad.mit.edu	37	chr2	239159221	239159221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggtacgtcatcatgacGctgctgtccgcatctgccat	10	13	3	1	rs140643763	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239159221G>A	ENST00000254657.3	-	21	3717	c.3438C>T	c.(3436-3438)agC>agT	p.S1146S	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1146					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCATCATGACGCTGCTGTCCG	0.532													False	0	False	2:239159221	0	A	239159221	G	A	239159221	2	1	88	1	0	0	0	0	0	0	0	1	11798	1078	38	1		1	PER2	2	239159221	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11417	239159221	4040152	3525	11237											
PER2	8864	broad.mit.edu	37	chr2	239161789	239161789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtggctggacaagcacatgGctgtctggggatcgaggtcc	17	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239161789G>T	ENST00000254657.3	-	19	3154	c.2875C>A	c.(2875-2877)Cca>Aca	p.P959T	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	959	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CAAGCACATGGCTGTCTGGGG	0.667													False	0	False	2:239161789	0	T	239161789	G	T	239161789	3	4	88	1	0	0	0	0	1	0	0	0	11798	1203	42	3	912	3	PER2	2	239161789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2568	239161789	4037584	3526	11238											
PER2	8864	broad.mit.edu	37	chr2	239161903	239161903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggggaagaaggcctgggGcaggtttggggtccccgagg	21	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239161903G>A	ENST00000254657.3	-	19	3040	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	921	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AAGGCCTGGGGCAGGTTTGGG	0.627													False	0	True	2:239161903	0	A	239161903	G	A	239161903	3	1	88	1	0	0	0	0	1	0	0	0	11798	1203	42	2	1026	2	PER2	2	239161903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114	239161903	4037470	3527	11239											
PER2	8864	broad.mit.edu	37	chr2	239180010	239180010	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggggaggtgaaactgtggaAcacgcccacatcgtgaggcg	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239180010A>G	ENST00000254657.3	-	6	994	c.715T>C	c.(715-717)Ttc>Ctc	p.F239L	PER2_ENST00000355768.2_Missense_Mutation_p.F239L|PER2_ENST00000440245.1_Missense_Mutation_p.F239L|PER2_ENST00000254658.3_Missense_Mutation_p.F239L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	239	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AAACTGTGGAACACGCCCACA	0.537													False	0	False	2:239180010	0	G	239180010	A	G	239180010	3	3	88	1	0	0	0	0	1	0	0	0	11798	43	2	4	3124	4	PER2	2	239180010	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18107	239180010	4019363	3528	11240											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239234548	239234548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccagcccgaatcgtggcGgggcatgagcctgaaagaac	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239234548G>A	ENST00000373327.4	+	3	513	c.291G>A	c.(289-291)gcG>gcA	p.A97A	TRAF3IP1_ENST00000391994.2_Silent_p.A97A|TRAF3IP1_ENST00000391993.3_Silent_p.A97A	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	97	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GAATCGTGGCGGGGCATGAGC	0.468													False	0	True	2:239234548	0	A	239234548	G	A	239234548	2	1	88	1	0	0	0	0	0	0	0	1	16523	1103	39	1		1	TRAF3IP1	2	239234548	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54538	239234548	3964825	3529	11241											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239306131	239306131	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagtcggcatggaagaAggagaaggacatcgtttcca	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239306131A>C	ENST00000373327.4	+	16	1943	c.1721A>C	c.(1720-1722)aAg>aCg	p.K574T	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.K574T|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.K508T	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	574	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GCATGGAAGAAGGAGAAGGAC	0.552													False	0	True	2:239306131	0	C	239306131	A	C	239306131	3	2	88	1	0	0	0	0	1	0	0	0	16523	72	3	4	1783	4	TRAF3IP1	2	239306131	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71583	239306131	3893242	3530	11242											
TRAF3IP1	26146	broad.mit.edu	37	chr2	239306183	239306183	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagctccgcacgtccatccaGaccctgtgcaagagcgcact	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239306183G>T	ENST00000373327.4	+	16	1995	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.Q591H|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.Q525H	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	591	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CGTCCATCCAGACCCTGTGCA	0.542													False	0	True	2:239306183	0	T	239306183	G	T	239306183	3	4	88	1	0	0	0	0	1	0	0	0	16523	933	33	3	1835	3	TRAF3IP1	2	239306183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	239306183	3893190	3531	11243											
HDAC4	9759	broad.mit.edu	37	chr2	240029793	240029793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggcgggaccagatgcTctggatcctcccggcgtgct	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240029793T>C	ENST00000345617.3	-	15	2841	c.2050A>G	c.(2050-2052)Agc>Ggc	p.S684G	HDAC4_ENST00000541256.1_Missense_Mutation_p.S658G|HDAC4_ENST00000543185.1_Missense_Mutation_p.S268G	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	684	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GACCAGATGCTCTGGATCCTC	0.682													False	0	False	2:240029793	0	C	240029793	T	C	240029793	3	2	88	1	0	0	0	0	1	0	0	0	7056	1551	54	4	1256	4	HDAC4	2	240029793	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	723610	240029793	3169580	3532	11244											
HDAC4	9759	broad.mit.edu	37	chr2	240033255	240033255	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcttggtggggggctcctGcacagacacggggaaggtgg	20	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240033255G>A	ENST00000345617.3	-	14	2721	c.1930C>T	c.(1930-1932)Cag>Tag	p.Q644*	HDAC4_ENST00000541256.1_Nonsense_Mutation_p.Q618*|HDAC4_ENST00000543185.1_Nonsense_Mutation_p.Q228*	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	644					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGGGGCTCCTGCACAGACACG	0.701													False	0	False	2:240033255	0	A	240033255	G	A	240033255	4	1	88	1	0	0	0	0	0	1	0	0	7056	1328	46	2	1380	2	HDAC4	2	240033255	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3462	240033255	3166118	3533	11245											
HDAC4	9759	broad.mit.edu	37	chr2	240048328	240048328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatggagggggacacccGgtctgcaccaaccaaggact	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240048328G>A	ENST00000345617.3	-	12	2133	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	HDAC4_ENST00000541256.1_Missense_Mutation_p.R422W|HDAC4_ENST00000543185.1_Missense_Mutation_p.R32W	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	448					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGGGACACCCGGTCTGCACCA	0.637													False	0	True	2:240048328	0	A	240048328	G	A	240048328	3	1	88	1	0	0	0	0	1	0	0	0	7056	1115	39	1	1976	1	HDAC4	2	240048328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15073	240048328	3151045	3534	11246											
NDUFA10	4705	broad.mit.edu	37	chr2	240921628	240921628	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acagcccgctgcgggtagggGatccccagctacaaggttag	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240921628G>T	ENST00000404554.1	-	10	1012	c.1008C>A	c.(1006-1008)atC>atA	p.I336I	NDUFA10_ENST00000252711.2_Intron			O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	333					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	GCGGGTAGGGGATCCCCAGCT	0.488													False	0	True	2:240921628	0	T	240921628	G	T	240921628	2	4	88	1	0	0	0	0	0	0	0	1	10328	1189	41	3		3	NDUFA10	2	240921628	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	873300	240921628	2277745	3535	11247											
NDUFA10	4705	broad.mit.edu	37	chr2	240929543	240929543	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgagctccaatggtgactTccgggagaaagataggaatg	14	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240929543T>A	ENST00000252711.2	-	9	1047	c.947A>T	c.(946-948)gAa>gTa	p.E316V	NDUFA10_ENST00000404554.1_Missense_Mutation_p.E316V|NDUFA10_ENST00000307300.4_Missense_Mutation_p.E346V	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	316					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATGGTGACTTCCGGGAGAAA	0.443													False	0	False	2:240929543	0	A	240929543	T	A	240929543	3	1	88	1	0	0	0	0	1	0	0	0	10328	1783	62	5	128	5	NDUFA10	2	240929543	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7915	240929543	2269830	3536	11248											
NDUFA10	4705	broad.mit.edu	37	chr2	240960761	240960761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgccattatagtcggtggCgaggggcttcccatctcctg	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240960761C>T	ENST00000252711.2	-	3	413	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	NDUFA10_ENST00000404554.1_Missense_Mutation_p.A105T|NDUFA10_ENST00000307300.4_Missense_Mutation_p.A105T|NDUFA10_ENST00000407129.3_Missense_Mutation_p.A105T	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	105					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	TAGTCGGTGGCGAGGGGCTTC	0.488											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:240960761	0	T	240960761	C	T	240960761	3	4	88	1	0	0	0	0	1	0	0	0	10328	768	27	1	786	1	NDUFA10	2	240960761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31218	240960761	2238612	3537	11249											
OR6B2	389090	broad.mit.edu	37	chr2	240969775	240969775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggaggaagagcaggtaCtgcagccctggggccgtggg	19	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240969775C>T	ENST00000402971.2	-	1	131	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AGAGCAGGTACTGCAGCCCTG	0.612													False	0	False	2:240969775	0	T	240969775	C	T	240969775	2	4	88	1	0	0	0	0	0	0	0	1	11256	564	20	2		2	OR6B2	2	240969775	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9014	240969775	2229598	3538	11250											
MYEOV2	150678	broad.mit.edu	37	chr2	241073376	241073376	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtctgcatgaacggccTtttcattggctgccaagtcc	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241073376T>G	ENST00000307266.3	-	2	202	c.203A>C	c.(202-204)aAg>aCg	p.K68T	MYEOV2_ENST00000489698.1_5'UTR|MYEOV2_ENST00000607357.1_Missense_Mutation_p.K37T	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	37										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		ATGAACGGCCTTTTCATTGGC	0.483													False	0	True	2:241073376	0	G	241073376	T	G	241073376	3	3	88	1	0	0	0	0	1	0	0	0	10093	1609	56	4	575	4	MYEOV2	2	241073376	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	103601	241073376	2125997	3539	11251											
MYEOV2	150678	broad.mit.edu	37	chr2	241073406	241073406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaagtccatcaagagcCcggtgctgcctcccgcctgg	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241073406C>T	ENST00000307266.3	-	2	172	c.173G>A	c.(172-174)gGg>gAg	p.G58E	MYEOV2_ENST00000489698.1_5'UTR|MYEOV2_ENST00000607357.1_Missense_Mutation_p.G27E	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	27										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		CATCAAGAGCCCGGTGCTGCC	0.498													False	0	True	2:241073406	0	T	241073406	C	T	241073406	3	4	88	1	0	0	0	0	1	0	0	0	10093	623	22	2	605	2	MYEOV2	2	241073406	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	241073406	2125967	3540	11252											
ANKMY1	51281	broad.mit.edu	37	chr2	241468599	241468599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggaaagagcttgtcatggGcaggtggtcactgttggtcg	17	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241468599G>A	ENST00000391987.1	-	5	907	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.P181S|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P270S|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000403283.1_Intron	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	181							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CTTGTCATGGGCAGGTGGTCA	0.468													False	0	True	2:241468599	0	A	241468599	G	A	241468599	3	1	88	1	0	0	0	0	1	0	0	0	634	1203	42	2	2340	2	ANKMY1	2	241468599	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	395193	241468599	1730774	3541	11253											
ANKMY1	51281	broad.mit.edu	37	chr2	241492362	241492362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcttcatgtacatggtgCcgtagccttctcggtggctg	13	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241492362C>A	ENST00000391987.1	-	4	548	c.182G>T	c.(181-183)gGc>gTc	p.G61V	ANKMY1_ENST00000361678.4_Missense_Mutation_p.G150V|ANKMY1_ENST00000406958.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.G61V|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G150V|ANKMY1_ENST00000272972.3_Missense_Mutation_p.G61V|ANKMY1_ENST00000405002.1_Missense_Mutation_p.G61V|ANKMY1_ENST00000536462.1_Missense_Mutation_p.G103V|ANKMY1_ENST00000401804.1_Missense_Mutation_p.G150V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.G150V|ANKMY1_ENST00000403283.1_Missense_Mutation_p.G229V	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	61							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GTACATGGTGCCGTAGCCTTC	0.557													False	0	False	2:241492362	0	A	241492362	C	A	241492362	3	1	88	1	0	0	0	0	1	0	0	0	634	739	26	3	2703	3	ANKMY1	2	241492362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23763	241492362	1707011	3542	11254											
AQP12B	653437	broad.mit.edu	37	chr2	241622183	241622183	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgggagcagggccttggaGgcccgcctggctgcctcaca	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241622183G>T	ENST00000407834.3	-	1	134	c.72C>A	c.(70-72)gcC>gcA	p.A24A		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	24						integral to membrane	transporter activity	p.A24A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGGCCTTGGAGGCCCGCCTGG	0.672													False	0	False	2:241622183	0	T	241622183	G	T	241622183	2	4	88	1	0	0	0	0	0	0	0	1	827	987	35	3		3	AQP12B	2	241622183	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129821	241622183	1577190	3543	11255											
KIF1A	547	broad.mit.edu	37	chr2	241656817	241656817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagacctccttctggagagCttggacctgcagaagagttg	13	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241656817C>A	ENST00000498729.2	-	49	5586	c.5340G>T	c.(5338-5340)aaG>aaT	p.K1780N	KIF1A_ENST00000320389.7_Missense_Mutation_p.K1679N	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1679					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TTCTGGAGAGCTTGGACCTGC	0.662													False	0	False	2:241656817	0	A	241656817	C	A	241656817	3	1	88	1	0	0	0	0	1	0	0	0	8333	796	28	3	39	3	KIF1A	2	241656817	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34634	241656817	1542556	3544	11256											
KIF1A	547	broad.mit.edu	37	chr2	241666339	241666339	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggagctgtcccacgcagcCtcaaattggtaaaaggtcct	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241666339C>A	ENST00000498729.2	-	39	4272	c.4026G>T	c.(4024-4026)gaG>gaT	p.E1342D	KIF1A_ENST00000320389.7_Missense_Mutation_p.E1241D	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1241					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCCACGCAGCCTCAAATTGGT	0.527													False	0	False	2:241666339	0	A	241666339	C	A	241666339	3	1	88	1	0	0	0	0	1	0	0	0	8333	680	24	3	1393	3	KIF1A	2	241666339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9522	241666339	1533034	3545	11257											
KIF1A	547	broad.mit.edu	37	chr2	241697877	241697877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggagggcacctctgcagCgcggtcgtacatctcccgca	12	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241697877C>T	ENST00000498729.2	-	26	2728	c.2482G>A	c.(2482-2484)Gct>Act	p.A828T	KIF1A_ENST00000320389.7_Missense_Mutation_p.A819T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	819					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACCTCTGCAGCGCGGTCGTAC	0.662													False	0	False	2:241697877	0	T	241697877	C	T	241697877	3	4	88	1	0	0	0	0	1	0	0	0	8333	768	27	1	2709	1	KIF1A	2	241697877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31538	241697877	1501496	3546	11258											
KIF1A	547	broad.mit.edu	37	chr2	241709069	241709069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccggatggcttctgtccGccgcagcttctcctcccagg	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241709069G>A	ENST00000498729.2	-	16	1642	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	KIF1A_ENST00000320389.7_Missense_Mutation_p.R457W	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	457					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCTTCTGTCCGCCGCAGCTTC	0.627													False	0	False	2:241709069	0	A	241709069	G	A	241709069	3	1	88	1	0	0	0	0	1	0	0	0	8333	1086	38	1	3835	1	KIF1A	2	241709069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11192	241709069	1490304	3547	11259											
KIF1A	547	broad.mit.edu	37	chr2	241737164	241737164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccttcaccgaagccccGgccatctctgtggccttcgt	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241737164G>A	ENST00000498729.2	-	2	252	c.6C>T	c.(4-6)gcC>gcT	p.A2A	KIF1A_ENST00000320389.7_Silent_p.A2A	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	2	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCGAAGCCCCGGCCATCTCTG	0.562													False	0	True	2:241737164	0	A	241737164	G	A	241737164	2	1	88	1	0	0	0	0	0	0	0	1	8333	1103	39	1		1	KIF1A	2	241737164	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28095	241737164	1462209	3548	11260											
AGXT	189	broad.mit.edu	37	chr2	241808766	241808766	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcagcgagccgtggacatCggggagcgcataggtaaggg	20	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241808766C>T	ENST00000307503.3	+	2	732	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	115					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCGTGGACATCGGGGAGCGCA	0.657													False	0	True	2:241808766	0	T	241808766	C	T	241808766	2	4	88	1	0	0	0	0	0	0	0	1	404	874	31	1		1	AGXT	2	241808766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71602	241808766	1390607	3549	11261											
AGXT	189	broad.mit.edu	37	chr2	241814608	241814608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaacttctggggctgtgacGaccagcccaggatgtgaggc	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241814608G>A	ENST00000307503.3	+	7	1150	c.763G>A	c.(763-765)Gac>Aac	p.D255N		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	255					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGGCTGTGACGACCAGCCCAG	0.602													False	0	False	2:241814608	0	A	241814608	G	A	241814608	3	1	88	1	0	0	0	0	1	0	0	0	404	1058	37	1	789	1	AGXT	2	241814608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5842	241814608	1384765	3550	11262											
C2orf54	79919	broad.mit.edu	37	chr2	241829557	241829557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccccagcagcctcgtgagCaggtagtcagtggaggtcct	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241829557C>T	ENST00000307486.8	-	3	410	c.312G>A	c.(310-312)ctG>ctA	p.L104L	C2orf54_ENST00000402775.2_Silent_p.L85L|C2orf54_ENST00000388934.4_Silent_p.L253L	NM_001282921.1	NP_001269850.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	253										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCCTCGTGAGCAGGTAGTCAG	0.682													False	0	False	2:241829557	0	T	241829557	C	T	241829557	2	4	88	1	0	0	0	0	0	0	0	1	2191	697	25	2		2	C2orf54	2	241829557	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14949	241829557	1369816	3551	11263											
SNED1	25992	broad.mit.edu	37	chr2	241988103	241988103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgatgactgtgagtgccGcaacggaggcagatgcctgg	15	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241988103G>A	ENST00000310397.8	+	10	1424	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Missense_Mutation_p.R475H|SNED1_ENST00000405547.3_Missense_Mutation_p.R475H|SNED1_ENST00000401884.1_Missense_Mutation_p.R475H|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	475	EGF-like 6.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGTGAGTGCCGCAACGGAGGC	0.637													False	0	False	2:241988103	0	A	241988103	G	A	241988103	3	1	88	1	0	0	0	0	1	0	0	0	14925	1087	38	1	1462	1	SNED1	2	241988103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158546	241988103	1211270	3552	11264											
PASK	23178	broad.mit.edu	37	chr2	242051830	242051830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatgatgtccttcaagcGcaggtatcccactgctgaca	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242051830G>A	ENST00000405260.1	-	15	4056	c.3358C>T	c.(3358-3360)Cgc>Tgc	p.R1120C	PASK_ENST00000544142.1_Missense_Mutation_p.R934C|PASK_ENST00000539818.1_Missense_Mutation_p.R904C|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000358649.4_Missense_Mutation_p.R1127C|PASK_ENST00000234040.4_Missense_Mutation_p.R1120C	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1120	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.R1120C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TCCTTCAAGCGCAGGTATCCC	0.458													False	0	False	2:242051830	0	A	242051830	G	A	242051830	3	1	88	1	0	0	0	0	1	0	0	0	11540	1087	38	1	629	1	PASK	2	242051830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63727	242051830	1147543	3553	11265											
PASK	23178	broad.mit.edu	37	chr2	242062165	242062165	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctccttgtttttttccttGtccacagcagtccacacgaa	5	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242062165G>A	ENST00000403638.3	-	12	3145	c.3054C>T	c.(3052-3054)gaC>gaT	p.D1018D	PASK_ENST00000544142.1_Silent_p.D832D|PASK_ENST00000539818.1_Silent_p.D802D|PASK_ENST00000358649.4_Silent_p.D1018D|PASK_ENST00000234040.4_Silent_p.D1018D|PASK_ENST00000405260.1_Silent_p.D1018D	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1018	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TTTTTTCCTTGTCCACAGCAG	0.602													False	0	False	2:242062165	0	A	242062165	G	A	242062165	2	1	88	1	0	0	0	0	0	0	0	1	11540	1368	48	2		2	PASK	2	242062165	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10335	242062165	1137208	3554	11266											
PASK	23178	broad.mit.edu	37	chr2	242079416	242079416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgagcttctggccaatcaGgtcctggctgctgtacccca	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242079416G>A	ENST00000403638.3	-	4	575	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Silent_p.L162L|PASK_ENST00000234040.4_Silent_p.L162L|PASK_ENST00000405260.1_Silent_p.L162L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	162	PAS 1.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGGCCAATCAGGTCCTGGCTG	0.587													False	0	False	2:242079416	0	A	242079416	G	A	242079416	2	1	88	1	0	0	0	0	0	0	0	1	11540	991	35	2		2	PASK	2	242079416	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17251	242079416	1119957	3555	11267											
PASK	23178	broad.mit.edu	37	chr2	242080137	242080137	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaatattctgggcagccagTgatgatagacaataggagct	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242080137T>C	ENST00000403638.3	-	3	319	c.228A>G	c.(226-228)tcA>tcG	p.S76S	PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Silent_p.S76S|PASK_ENST00000234040.4_Silent_p.S76S|PASK_ENST00000405260.1_Silent_p.S76S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	76					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGGCAGCCAGTGATGATAGAC	0.542													False	0	False	2:242080137	0	C	242080137	T	C	242080137	2	2	88	1	0	0	0	0	0	0	0	1	11540	1683	59	4		4	PASK	2	242080137	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	721	242080137	1119236	3556	11268											
PPP1R7	5510	broad.mit.edu	37	chr2	242122122	242122122	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgaagggagccaggagcCtggagacagtgtacctggag	17	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242122122C>A	ENST00000234038.6	+	10	1441	c.967C>A	c.(967-969)Ctg>Atg	p.L323M	PPP1R7_ENST00000272983.8_Missense_Mutation_p.L280M|PPP1R7_ENST00000407025.1_Missense_Mutation_p.L323M	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	323						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		AGCCAGGAGCCTGGAGACAGT	0.597													False	0	False	2:242122122	0	A	242122122	C	A	242122122	3	1	88	1	0	0	0	0	1	0	0	0	12450	680	24	3	1005	3	PPP1R7	2	242122122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41985	242122122	1077251	3557	11269											
ANO7	50636	broad.mit.edu	37	chr2	242149899	242149899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggcctctcgcatcgccaGcctcacggggtctgtagtga	12	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242149899G>A	ENST00000274979.8	+	15	1740	c.1637G>A	c.(1636-1638)aGc>aAc	p.S546N	ANO7_ENST00000402430.3_Missense_Mutation_p.S545N	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	546						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CGCATCGCCAGCCTCACGGGG	0.647													False	0	False	2:242149899	0	A	242149899	G	A	242149899	3	1	88	1	0	0	0	0	1	0	0	0	702	971	34	2	1767	2	ANO7	2	242149899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27777	242149899	1049474	3558	11270											
ANO7	50636	broad.mit.edu	37	chr2	242155543	242155543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcagaagttccggcttcGctccaagaagaggaaggcgg	16	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242155543G>A	ENST00000274979.8	+	19	2127	c.2024G>A	c.(2023-2025)cGc>cAc	p.R675H	ANO7_ENST00000402430.3_Missense_Mutation_p.R674H	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	675						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TTCCGGCTTCGCTCCAAGAAG	0.577													False	0	False	2:242155543	0	A	242155543	G	A	242155543	3	1	88	1	0	0	0	0	1	0	0	0	702	1087	38	1	2170	1	ANO7	2	242155543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5644	242155543	1043830	3559	11271											
HDLBP	3069	broad.mit.edu	37	chr2	242173318	242173318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattactgccccctttctccCgataatcttgggatggtatt	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242173318C>T	ENST00000391975.1	-	24	3432	c.3205G>A	c.(3205-3207)Ggg>Agg	p.G1069R	HDLBP_ENST00000427183.2_Missense_Mutation_p.G1036R|HDLBP_ENST00000391976.2_Missense_Mutation_p.G1069R|HDLBP_ENST00000310931.4_Missense_Mutation_p.G1069R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1069	KH 13.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	p.G1069W(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCTTTCTCCCGATAATCTTG	0.473													False	0	True	2:242173318	0	T	242173318	C	T	242173318	3	4	88	1	0	0	0	0	1	0	0	0	7072	652	23	1	621	1	HDLBP	2	242173318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17775	242173318	1026055	3560	11272											
HDLBP	3069	broad.mit.edu	37	chr2	242189280	242189280	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagatgcaagctccagcagCtctcgcttggcctgctgcac	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242189280C>A	ENST00000391975.1	-	12	1715	c.1488G>T	c.(1486-1488)gaG>gaT	p.E496D	HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000427183.2_Missense_Mutation_p.E463D|HDLBP_ENST00000391976.2_Missense_Mutation_p.E496D|HDLBP_ENST00000310931.4_Missense_Mutation_p.E496D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	496	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCTCCAGCAGCTCTCGCTTGG	0.597													False	0	False	2:242189280	0	A	242189280	C	A	242189280	3	1	88	1	0	0	0	0	1	0	0	0	7072	796	28	3	2386	3	HDLBP	2	242189280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15962	242189280	1010093	3561	11273											
HDLBP	3069	broad.mit.edu	37	chr2	242192398	242192398	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgctcttcccaatgaggTgcctgtggaacttgtggtcg	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242192398T>C	ENST00000391975.1	-	11	1573	c.1346A>G	c.(1345-1347)cAc>cGc	p.H449R	HDLBP_ENST00000427183.2_Missense_Mutation_p.H416R|HDLBP_ENST00000391976.2_Missense_Mutation_p.H449R|HDLBP_ENST00000310931.4_Missense_Mutation_p.H449R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	449	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCAATGAGGTGCCTGTGGAA	0.572													False	0	False	2:242192398	0	C	242192398	T	C	242192398	3	2	88	1	0	0	0	0	1	0	0	0	7072	1696	59	4	2532	4	HDLBP	2	242192398	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3118	242192398	1006975	3562	11274											
SEPT2	4735	broad.mit.edu	37	chr2	242282453	242282453	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcaaaatctatcacttacCtgatgcagaatcagatgaag	6	9	4	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242282453C>A	ENST00000391973.2	+	8	1169	c.641C>A	c.(640-642)cCt>cAt	p.P214H	SEPT2_ENST00000402092.2_Missense_Mutation_p.P214H|SEPT2_ENST00000391971.2_Missense_Mutation_p.P214H|SEPT2_ENST00000407971.1_Missense_Mutation_p.P174H|SEPT2_ENST00000401990.1_Missense_Mutation_p.P224H|SEPT2_ENST00000360051.3_Missense_Mutation_p.P214H	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	214					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TATCACTTACCTGATGCAGAA	0.348													False	0	False	2:242282453	0	A	242282453	C	A	242282453	3	1	88	1	0	0	0	0	1	0	0	0	14145	681	24	3	667	3	SEPT2	2	242282453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90055	242282453	916920	3563	11275											
FARP2	9855	broad.mit.edu	37	chr2	242415374	242415374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagcgggacctggtggGcatagagaacctcattgctc	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242415374G>A	ENST00000264042.3	+	19	2404	c.2234G>A	c.(2233-2235)gGc>gAc	p.G745D		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	745					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GACCTGGTGGGCATAGAGAAC	0.498													False	0	True	2:242415374	0	A	242415374	G	A	242415374	3	1	88	1	0	0	0	0	1	0	0	0	5717	1203	42	2	2304	2	FARP2	2	242415374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132921	242415374	783999	3564	11276											
STK25	10494	broad.mit.edu	37	chr2	242438508	242438508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgggaatcaggaacaggaCgcgcatggggtggaggtcag	18	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242438508C>T	ENST00000316586.4	-	7	1016	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	STK25_ENST00000405883.3_Missense_Mutation_p.V146I|STK25_ENST00000401869.1_Missense_Mutation_p.V223I|STK25_ENST00000403346.3_Missense_Mutation_p.V223I|STK25_ENST00000543554.1_Missense_Mutation_p.V129I|STK25_ENST00000535007.1_Missense_Mutation_p.V129I|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405585.1_Missense_Mutation_p.V146I	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	223	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGGAACAGGACGCGCATGGGG	0.612													False	0	False	2:242438508	0	T	242438508	C	T	242438508	3	4	88	1	0	0	0	0	1	0	0	0	15376	536	19	1	637	1	STK25	2	242438508	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23134	242438508	760865	3565	11277											
STK25	10494	broad.mit.edu	37	chr2	242441007	242441007	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctcctccaggtcgatgatCttgatggccaccacctcctt	8	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242441007C>T	ENST00000316586.4	-	3	496	c.147G>A	c.(145-147)aaG>aaA	p.K49K	STK25_ENST00000405883.3_Intron|STK25_ENST00000401869.1_Silent_p.K49K|STK25_ENST00000403346.3_Silent_p.K49K|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000405585.1_Intron	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	49	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GGTCGATGATCTTGATGGCCA	0.567													False	0	False	2:242441007	0	T	242441007	C	T	242441007	2	4	88	1	0	0	0	0	0	0	0	1	15376	912	32	2		2	STK25	2	242441007	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2499	242441007	758366	3566	11278											
THAP4	51078	broad.mit.edu	37	chr2	242572459	242572459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcaggctcttcagctcGccgttcttcttctccacctg	8	17	5	0	rs149294304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242572459G>A	ENST00000407315.1	-	2	1544	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	371							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCTTCAGCTCGCCGTTCTTCT	0.617													False	0	False	2:242572459	0	A	242572459	G	A	242572459	2	1	88	1	0	0	0	0	0	0	0	1	15928	1074	38	1		1	THAP4	2	242572459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131452	242572459	626914	3567	11279											
THAP4	51078	broad.mit.edu	37	chr2	242572744	242572744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgggccaggcccttgtcGggtcccaggctgctcccact	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242572744G>A	ENST00000407315.1	-	2	1259	c.828C>T	c.(826-828)ccC>ccT	p.P276P		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	276							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGCCCTTGTCGGGTCCCAGGC	0.637													False	0	True	2:242572744	0	A	242572744	G	A	242572744	2	1	88	1	0	0	0	0	0	0	0	1	15928	1103	39	1		1	THAP4	2	242572744	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	285	242572744	626629	3568	11280											
THAP4	51078	broad.mit.edu	37	chr2	242573285	242573285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccgggtgcggccatggCctccagcccccctcttcttc	9	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242573285C>T	ENST00000407315.1	-	2	718	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	96							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCGGCCATGGCCTCCAGCCCC	0.647													False	0	False	2:242573285	0	T	242573285	C	T	242573285	3	4	88	1	0	0	0	0	1	0	0	0	15928	739	26	2	1474	2	THAP4	2	242573285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	541	242573285	626088	3569	11281											
ING5	84289	broad.mit.edu	37	chr2	242648728	242648728	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagcgcctgcagaagatccaGaacgcctacagcaagtgcaa	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242648728G>T	ENST00000313552.6	+	3	233	c.207G>T	c.(205-207)caG>caT	p.Q69H	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Missense_Mutation_p.Q69H	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	69					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGAAGATCCAGAACGCCTACA	0.577													False	0	False	2:242648728	0	T	242648728	G	T	242648728	3	4	88	1	0	0	0	0	1	0	0	0	7789	933	33	3	217	3	ING5	2	242648728	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75443	242648728	550645	3570	11282											
ING5	84289	broad.mit.edu	37	chr2	242650891	242650891	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttgaaagctccggagggCgagggttaaaaagcaagtct	13	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242650891C>T	ENST00000313552.6	+	4	402	c.376C>T	c.(376-378)Cga>Tga	p.R126*	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Nonsense_Mutation_p.R126*	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	126					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTCCGGAGGGCGAGGGTTAAA	0.398													False	0	True	2:242650891	0	T	242650891	C	T	242650891	4	4	88	1	0	0	0	0	0	1	0	0	7789	760	27	1	390	1	ING5	2	242650891	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2163	242650891	548482	3571	11283											
D2HGDH	728294	broad.mit.edu	37	chr2	242681954	242681954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcatcctctccactgcccGcatgaaccgggtcctcagct	8	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242681954G>A	ENST00000321264.4	+	4	664	c.455G>A	c.(454-456)cGc>cAc	p.R152H	D2HGDH_ENST00000342518.6_Missense_Mutation_p.R152H|D2HGDH_ENST00000537090.1_Missense_Mutation_p.R152H|D2HGDH_ENST00000403782.1_Missense_Mutation_p.R18H	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	152	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TCCACTGCCCGCATGAACCGG	0.642													False	0	True	2:242681954	0	A	242681954	G	A	242681954	3	1	88	1	0	0	0	0	1	0	0	0	4238	1087	38	1	465	1	D2HGDH	2	242681954	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31063	242681954	517419	3572	11284											
D2HGDH	728294	broad.mit.edu	37	chr2	242689694	242689694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggcgccatctccacctgGccagcccggtgcaaggtact	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242689694G>A	ENST00000321264.4	+	7	1191	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.A194T	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	328					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TCTCCACCTGGCCAGCCCGGT	0.632													False	0	False	2:242689694	0	A	242689694	G	A	242689694	3	1	88	1	0	0	0	0	1	0	0	0	4238	1203	42	2	1004	2	D2HGDH	2	242689694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7740	242689694	509679	3573	11285											
D2HGDH	728294	broad.mit.edu	37	chr2	242695421	242695421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcacgtggtgggctatgGccaccttggtgagcggcgcc	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242695421G>A	ENST00000321264.4	+	9	1507	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.G299D	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	433					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GTGGGCTATGGCCACCTTGGT	0.701													False	0	False	2:242695421	0	A	242695421	G	A	242695421	3	1	88	1	0	0	0	0	1	0	0	0	4238	1203	42	2	1328	2	D2HGDH	2	242695421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5727	242695421	503952	3574	11286											
NEU4	129807	broad.mit.edu	37	chr2	242755732	242755732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgctcttcgagcgggagagGacgggcctgacctaccgcgt	16	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242755732G>T	ENST00000391969.2	+	3	762	c.51G>T	c.(49-51)agG>agT	p.R17S	NEU4_ENST00000407683.1_Missense_Mutation_p.R17S|NEU4_ENST00000404257.1_Missense_Mutation_p.R29S|NEU4_ENST00000325935.6_Missense_Mutation_p.R30S|NEU4_ENST00000405370.1_Missense_Mutation_p.R17S	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	17						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGCGGGAGAGGACGGGCCTGA	0.692													False	0	False	2:242755732	0	T	242755732	G	T	242755732	3	4	88	1	0	0	0	0	1	0	0	0	10412	1165	41	3	96	3	NEU4	2	242755732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60311	242755732	443641	3575	11287											
PDCD1	5133	broad.mit.edu	37	chr2	242794943	242794943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcggcagtcctggccgGgctggctgcggtcctcgggg	20	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242794943G>A	ENST00000334409.5	-	2	335	c.266C>T	c.(265-267)cCc>cTc	p.P89L		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	89	Ig-like V-type.				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GTCCTGGCCGGGCTGGCTGCG	0.642													False	0	True	2:242794943	0	A	242794943	G	A	242794943	3	1	88	1	0	0	0	0	1	0	0	0	11683	1232	43	2	616	2	PDCD1	2	242794943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39211	242794943	404430	3576	11288											
CHL1	10752	broad.mit.edu	37	chr3	407729	407729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtgactcacatttgaAacacagtttgaagttgtcct	7	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:407729A>G	ENST00000256509.2	+	15	2324	c.1682A>G	c.(1681-1683)aAa>aGa	p.K561R	CHL1_ENST00000397491.2_Missense_Mutation_p.K545R|CHL1-AS1_ENST00000608098.1_RNA|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	545	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCACATTTGAAACACAGTTTG	0.358													False	0	True	3:407729	0	G	407729	A	G	407729	3	3	88	1	0	0	0	0	1	0	0	0	3372	14	1	4	1732	4	CHL1	3	407729	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08		407729	197614701	3577	11289											
CHL1	10752	broad.mit.edu	37	chr3	433368	433368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttctagtacctgaacaGccaacttttctaaaggtcat	6	9	3	1	rs140090602		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:433368G>A	ENST00000256509.2	+	23	3444	c.2802G>A	c.(2800-2802)caG>caA	p.Q934Q	CHL1_ENST00000397491.2_Silent_p.Q918Q	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	918	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TACCTGAACAGCCAACTTTTC	0.299													False	0	False	3:433368	0	A	433368	G	A	433368	2	1	88	1	0	0	0	0	0	0	0	1	3372	962	34	2		2	CHL1	3	433368	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25639	433368	197589062	3578	11290											
CNTN6	27255	broad.mit.edu	37	chr3	1394015	1394015	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attttctttttagaatatttCtcttggaggatggcagcctc	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1394015C>A	ENST00000446702.2	+	12	1999	c.1372C>A	c.(1372-1374)Ctc>Atc	p.L458I	CNTN6_ENST00000350110.2_Missense_Mutation_p.L458I|CNTN6_ENST00000539053.1_Missense_Mutation_p.L386I			Q9UQ52	CNTN6_HUMAN	contactin 6	458	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TAGAATATTTCTCTTGGAGGA	0.323													False	0	True	3:1394015	0	A	1394015	C	A	1394015	3	1	88	1	0	0	0	0	1	0	0	0	3668	913	32	3	1414	3	CNTN6	3	1394015	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	960647	1394015	196628415	3579	11291											
CNTN6	27255	broad.mit.edu	37	chr3	1414156	1414156	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcattttgaaaggattggaGgagtaagttactgaaattgt	11	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1414156G>T	ENST00000446702.2	+	13	2293	c.1666G>T	c.(1666-1668)Gga>Tga	p.G556*	CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G556*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G484*			Q9UQ52	CNTN6_HUMAN	contactin 6	556	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGGATTGGAGGAGTAAGTTA	0.348													False	0	False	3:1414156	0	T	1414156	G	T	1414156	4	4	88	1	0	0	0	0	0	1	0	0	3668	1001	35	3	1712	3	CNTN6	3	1414156	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20141	1414156	196608274	3580	11292											
CNTN6	27255	broad.mit.edu	37	chr3	1424997	1424997	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacctcaactggccccaaggGgaacttctctccagagtttt	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1424997G>T	ENST00000446702.2	+	19	3049	c.2422G>T	c.(2422-2424)Gga>Tga	p.G808*	CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G808*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G736*			Q9UQ52	CNTN6_HUMAN	contactin 6	808	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGCCCCAAGGGGAACTTCTCT	0.433													False	0	True	3:1424997	0	T	1424997	G	T	1424997	4	4	88	1	0	0	0	0	0	1	0	0	3668	1233	43	3	2492	3	CNTN6	3	1424997	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10841	1424997	196597433	3581	11293											
CNTN4	152330	broad.mit.edu	37	chr3	2908487	2908487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcctatcaggataatcGccgctttgtttctcaagaga	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:2908487G>A	ENST00000397461.1	+	7	890	c.506G>A	c.(505-507)cGc>cAc	p.R169H	CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000418658.1_Missense_Mutation_p.R169H|CNTN4_ENST00000427331.1_Missense_Mutation_p.R169H	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	169	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGGATAATCGCCGCTTTGTT	0.388													False	0	False	3:2908487	0	A	2908487	G	A	2908487	3	1	88	1	0	0	0	0	1	0	0	0	3666	1087	38	1	524	1	CNTN4	3	2908487	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1483490	2908487	195113943	3582	11294											
CNTN4	152330	broad.mit.edu	37	chr3	2928774	2928774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatggaaagccaatagcaaGgaaagccagaagacacaagt	11	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:2928774G>T	ENST00000397461.1	+	9	1190	c.806G>T	c.(805-807)aGg>aTg	p.R269M	CNTN4_ENST00000358480.3_Missense_Mutation_p.R50M|CNTN4_ENST00000418658.1_Missense_Mutation_p.R269M|CNTN4_ENST00000427331.1_Missense_Mutation_p.R269M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	269	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAATAGCAAGGAAAGCCAGA	0.408													False	0	False	3:2928774	0	T	2928774	G	T	2928774	3	4	88	1	0	0	0	0	1	0	0	0	3666	1000	35	3	832	3	CNTN4	3	2928774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20287	2928774	195093656	3583	11295											
CNTN4	152330	broad.mit.edu	37	chr3	3067840	3067840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtcactgttggagagaGtattgttttaccgtgccagg	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3067840G>A	ENST00000397461.1	+	14	1925	c.1541G>A	c.(1540-1542)aGt>aAt	p.S514N	CNTN4_ENST00000358480.3_Missense_Mutation_p.S295N|CNTN4_ENST00000418658.1_Missense_Mutation_p.S514N|CNTN4_ENST00000427331.1_Missense_Mutation_p.S514N|CNTN4_ENST00000448906.2_Missense_Mutation_p.S186N|CNTN4_ENST00000397459.2_Missense_Mutation_p.S186N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	514	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTTGGAGAGAGTATTGTTTTA	0.428													False	0	True	3:3067840	0	A	3067840	G	A	3067840	3	1	88	1	0	0	0	0	1	0	0	0	3666	1029	36	2	1587	2	CNTN4	3	3067840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139066	3067840	194954590	3584	11296											
CRBN	51185	broad.mit.edu	37	chr3	3215924	3215924	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaagtcctgccatgaaattCttccatatcagcacctaggt	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3215924C>A	ENST00000231948.4	-	3	218	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	CRBN_ENST00000432408.2_Nonsense_Mutation_p.E65*	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	66					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		CCATGAAATTCTTCCATATCA	0.388													False	0	False	3:3215924	0	A	3215924	C	A	3215924	4	1	88	1	0	0	0	0	0	1	0	0	3874	922	32	3	1168	3	CRBN	3	3215924	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148084	3215924	194806506	3585	11297											
LRRN1	57633	broad.mit.edu	37	chr3	3888139	3888139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaatattcatcagcagaCtcaaaagtcatgcgtaaatg	7	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3888139C>T	ENST00000319331.3	+	2	2575	c.1814C>T	c.(1813-1815)aCt>aTt	p.T605I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	605	Fibronectin type-III.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CATCAGCAGACTCAAAAGTCA	0.478													False	0	False	3:3888139	0	T	3888139	C	T	3888139	3	4	88	1	0	0	0	0	1	0	0	0	9096	565	20	2	1816	2	LRRN1	3	3888139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	672215	3888139	194134291	3586	11298											
ITPR1	3708	broad.mit.edu	37	chr3	4683897	4683897	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaagggtcctggttttatAttcagccattctacaagctg	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683897A>C	ENST00000302640.8	+	7	837	c.487A>C	c.(487-489)Att>Ctt	p.I163L	ITPR1_ENST00000443694.2_Missense_Mutation_p.I163L|ITPR1_ENST00000456211.2_Missense_Mutation_p.I163L|ITPR1_ENST00000354582.6_Missense_Mutation_p.I163L|ITPR1_ENST00000423119.2_Missense_Mutation_p.I163L|ITPR1_ENST00000357086.4_Missense_Mutation_p.I163L|ITPR1_ENST00000544951.1_Missense_Mutation_p.I163L	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	163	MIR 1.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGGTTTTATATTCAGCCATT	0.458													False	0	False	3:4683897	0	C	4683897	A	C	4683897	3	2	88	1	0	0	0	0	1	0	0	0	7970	449	16	4	505	4	ITPR1	3	4683897	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	795758	4683897	193338533	3587	11299											
ITPR1	3708	broad.mit.edu	37	chr3	4683914	4683914	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatattcagccattctacaaGctgcgatccattggagacag	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683914G>T	ENST00000302640.8	+	7	854	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ITPR1_ENST00000443694.2_Missense_Mutation_p.K168N|ITPR1_ENST00000456211.2_Missense_Mutation_p.K168N|ITPR1_ENST00000354582.6_Missense_Mutation_p.K168N|ITPR1_ENST00000423119.2_Missense_Mutation_p.K168N|ITPR1_ENST00000357086.4_Missense_Mutation_p.K168N|ITPR1_ENST00000544951.1_Missense_Mutation_p.K168N	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	168					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CATTCTACAAGCTGCGATCCA	0.468													False	0	False	3:4683914	0	T	4683914	G	T	4683914	3	4	88	1	0	0	0	0	1	0	0	0	7970	962	34	3	522	3	ITPR1	3	4683914	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	4683914	193338516	3588	11300											
ITPR1	3708	broad.mit.edu	37	chr3	4747971	4747971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctctcagcccgcaatgCcgcacgcagggactctgttc	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4747971C>T	ENST00000302640.8	+	36	5083	c.4733C>T	c.(4732-4734)gCc>gTc	p.A1578V	ITPR1_ENST00000354582.6_Missense_Mutation_p.A1593V|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1584V|ITPR1_ENST00000357086.4_Missense_Mutation_p.A1584V|ITPR1_ENST00000456211.2_Missense_Mutation_p.A1569V|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.A1578V	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1593				AIAIPVDLDSQVNNLFLKSHSIVQK -> HCHSRGPGQPSQ QPLSQVPQHCAE (in Ref. 6; AAD14386).	activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCCCGCAATGCCGCACGCAGG	0.527													False	0	True	3:4747971	0	T	4747971	C	T	4747971	3	4	88	1	0	0	0	0	1	0	0	0	7970	739	26	2	4916	2	ITPR1	3	4747971	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64057	4747971	193274459	3589	11301											
ITPR1	3708	broad.mit.edu	37	chr3	4836804	4836804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttctggagcagcatttcGtttaacctggccgtcctgat	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4836804G>A	ENST00000302640.8	+	52	7169	c.6819G>A	c.(6817-6819)tcG>tcA	p.S2273S	ITPR1_ENST00000354582.6_Silent_p.S2273S|ITPR1_ENST00000423119.2_Silent_p.S2240S|ITPR1_ENST00000357086.4_Silent_p.S2240S|ITPR1_ENST00000456211.2_Silent_p.S2225S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Silent_p.S2273S	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2288					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCAGCATTTCGTTTAACCTGG	0.522													False	0	True	3:4836804	0	A	4836804	G	A	4836804	2	1	88	1	0	0	0	0	0	0	0	1	7970	1132	40	1		1	ITPR1	3	4836804	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88833	4836804	193185626	3590	11302											
ITPR1	3708	broad.mit.edu	37	chr3	4847865	4847865	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggctaccgagccatggttCtggatgttgagttcctctat	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4847865C>A	ENST00000302640.8	+	54	7491	c.7141C>A	c.(7141-7143)Ctg>Atg	p.L2381M	ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000354582.6_Missense_Mutation_p.L2381M|ITPR1_ENST00000423119.2_Missense_Mutation_p.L2348M|ITPR1_ENST00000357086.4_Missense_Mutation_p.L2348M|ITPR1_ENST00000456211.2_Missense_Mutation_p.L2333M|ITPR1_ENST00000544951.1_Missense_Mutation_p.L359M|ITPR1_ENST00000443694.2_Missense_Mutation_p.L2381M	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2396					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGCCATGGTTCTGGATGTTGA	0.453													False	0	False	3:4847865	0	A	4847865	C	A	4847865	3	1	88	1	0	0	0	0	1	0	0	0	7970	912	32	3	7396	3	ITPR1	3	4847865	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11061	4847865	193174565	3591	11303											
ITPR1	3708	broad.mit.edu	37	chr3	4852977	4852977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagtgtacagagaagagaCtttgcttaatgtcattaaaa	8	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4852977C>T	ENST00000302640.8	+	55	7606	c.7256C>T	c.(7255-7257)aCt>aTt	p.T2419I	ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000354582.6_Missense_Mutation_p.T2419I|ITPR1_ENST00000423119.2_Missense_Mutation_p.T2386I|ITPR1_ENST00000357086.4_Missense_Mutation_p.T2386I|ITPR1_ENST00000456211.2_Missense_Mutation_p.T2371I|ITPR1_ENST00000544951.1_Missense_Mutation_p.T397I|ITPR1_ENST00000443694.2_Missense_Mutation_p.T2419I	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2434					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGAGAAGAGACTTTGCTTAAT	0.388													False	0	True	3:4852977	0	T	4852977	C	T	4852977	3	4	88	1	0	0	0	0	1	0	0	0	7970	565	20	2	7515	2	ITPR1	3	4852977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5112	4852977	193169453	3592	11304											
ITPR1	3708	broad.mit.edu	37	chr3	4856239	4856239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatgtactcaggaagccgtCcaaagaggtaaattaatccc	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4856239C>T	ENST00000302640.8	+	57	7999	c.7649C>T	c.(7648-7650)tCc>tTc	p.S2550F	ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.S2550F|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2517F|ITPR1_ENST00000357086.4_Missense_Mutation_p.S2517F|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2502F|ITPR1_ENST00000544951.1_Missense_Mutation_p.S528F|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.S2550F|AC018816.3_ENST00000441894.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2565					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGGAAGCCGTCCAAAGAGGTA	0.567													False	0	False	3:4856239	0	T	4856239	C	T	4856239	3	4	88	1	0	0	0	0	1	0	0	0	7970	855	30	2	7916	2	ITPR1	3	4856239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3262	4856239	193166191	3593	11305											
BHLHE40	8553	broad.mit.edu	37	chr3	5025367	5025367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccctttaaacttagaaaCcaaagactaaactctctagg	4	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5025367C>T	ENST00000256495.3	+	5	1832	c.1229C>T	c.(1228-1230)aCc>aTc	p.T410I		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	410						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AACTTAGAAACCAAAGACTAA	0.468													False	0	True	3:5025367	0	T	5025367	C	T	5025367	3	4	88	1	0	0	0	0	1	0	0	0	1428	507	18	2	1247	2	BHLHE40	3	5025367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169128	5025367	192997063	3594	11306											
EDEM1	9695	broad.mit.edu	37	chr3	5257520	5257520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttgtctttctagtgcaatCgtgtacctgatgagaggagg	12	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5257520C>T	ENST00000256497.4	+	12	2024	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C		NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	631					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CTAGTGCAATCGTGTACCTGA	0.443													False	0	False	3:5257520	0	T	5257520	C	T	5257520	3	4	88	1	0	0	0	0	1	0	0	0	4941	884	31	1	1937	1	EDEM1	3	5257520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232153	5257520	192764910	3595	11307											
GRM7	2917	broad.mit.edu	37	chr3	6903264	6903264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacgccaagggtcccagCggagtgccctgcggcgacat	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903264C>T	ENST00000486284.1	+	1	463	c.189C>T	c.(187-189)agC>agT	p.S63S	GRM7_ENST00000357716.4_Silent_p.S63S|GRM7_ENST00000403881.1_Silent_p.S63S|GRM7_ENST00000402647.2_Silent_p.S63S|GRM7_ENST00000389336.4_Silent_p.S63S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	63					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGGGTCCCAGCGGAGTGCCCT	0.662													False	0	False	3:6903264	0	T	6903264	C	T	6903264	2	4	88	1	0	0	0	0	0	0	0	1	6849	767	27	1		1	GRM7	3	6903264	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1645744	6903264	191119166	3596	11308											
GRM7	2917	broad.mit.edu	37	chr3	6903328	6903328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggaagcgatgctctacGccctggaccagatcaacagt	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903328G>A	ENST00000486284.1	+	1	527	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	GRM7_ENST00000357716.4_Missense_Mutation_p.A85T|GRM7_ENST00000403881.1_Missense_Mutation_p.A85T|GRM7_ENST00000402647.2_Missense_Mutation_p.A85T|GRM7_ENST00000389336.4_Missense_Mutation_p.A85T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	85					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GATGCTCTACGCCCTGGACCA	0.632													False	0	True	3:6903328	0	A	6903328	G	A	6903328	3	1	88	1	0	0	0	0	1	0	0	0	6849	1087	38	1	255	1	GRM7	3	6903328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64	6903328	191119102	3597	11309											
GRM7	2917	broad.mit.edu	37	chr3	6903438	6903438	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcgaacagtcgcttacTttcgtccaggcgctcatcca	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903438T>G	ENST00000486284.1	+	1	637	c.363T>G	c.(361-363)acT>acG	p.T121T	GRM7_ENST00000357716.4_Silent_p.T121T|GRM7_ENST00000403881.1_Silent_p.T121T|GRM7_ENST00000402647.2_Silent_p.T121T|GRM7_ENST00000389336.4_Silent_p.T121T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	121					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGTCGCTTACTTTCGTCCAGG	0.582													False	0	True	3:6903438	0	G	6903438	T	G	6903438	2	3	88	1	0	0	0	0	0	0	0	1	6849	1596	56	4		4	GRM7	3	6903438	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110	6903438	191118992	3598	11310											
GRM7	2917	broad.mit.edu	37	chr3	7620460	7620460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgacacgcccattgtccggGcatctgggcgggaactcagc	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620460G>T	ENST00000486284.1	+	8	2141	c.1867G>T	c.(1867-1869)Gca>Tca	p.A623S	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.A623S|GRM7_ENST00000403881.1_Missense_Mutation_p.A623S|GRM7_ENST00000402647.2_Missense_Mutation_p.A623S|GRM7_ENST00000389336.4_Missense_Mutation_p.A623S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	623					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CATTGTCCGGGCATCTGGGCG	0.502													False	0	True	3:7620460	0	T	7620460	G	T	7620460	3	4	88	1	0	0	0	0	1	0	0	0	6849	1203	42	3	1897	3	GRM7	3	7620460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	717022	7620460	190401970	3599	11311											
GRM7	2917	broad.mit.edu	37	chr3	7620618	7620618	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttatgcagccctcttgacGaaaacaaatcggatttatcg	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620618G>A	ENST00000486284.1	+	8	2299	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Silent_p.T675T|GRM7_ENST00000403881.1_Silent_p.T675T|GRM7_ENST00000402647.2_Silent_p.T675T|GRM7_ENST00000389336.4_Silent_p.T675T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	675					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCCTCTTGACGAAAACAAATC	0.458													False	0	True	3:7620618	0	A	7620618	G	A	7620618	2	1	88	1	0	0	0	0	0	0	0	1	6849	1045	37	1		1	GRM7	3	7620618	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158	7620618	190401812	3600	11312											
GRM7	2917	broad.mit.edu	37	chr3	7620670	7620670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcaagaaatcagtaacaGctcccagactcataagccca	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620670G>A	ENST00000486284.1	+	8	2351	c.2077G>A	c.(2077-2079)Gct>Act	p.A693T	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.A693T|GRM7_ENST00000403881.1_Missense_Mutation_p.A693T|GRM7_ENST00000402647.2_Missense_Mutation_p.A693T|GRM7_ENST00000389336.4_Missense_Mutation_p.A693T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	693					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATCAGTAACAGCTCCCAGACT	0.438													False	0	False	3:7620670	0	A	7620670	G	A	7620670	3	1	88	1	0	0	0	0	1	0	0	0	6849	971	34	2	2107	2	GRM7	3	7620670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	7620670	190401760	3601	11313											
GRM7	2917	broad.mit.edu	37	chr3	7620917	7620917	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtactgtgtatgccaTcaagactcggggtgtacccg	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620917T>C	ENST00000486284.1	+	8	2598	c.2324T>C	c.(2323-2325)aTc>aCc	p.I775T	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.I775T|GRM7_ENST00000403881.1_Missense_Mutation_p.I775T|GRM7_ENST00000402647.2_Missense_Mutation_p.I775T|GRM7_ENST00000389336.4_Missense_Mutation_p.I775T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	775					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTGTATGCCATCAAGACTCGG	0.433													False	0	False	3:7620917	0	C	7620917	T	C	7620917	3	2	88	1	0	0	0	0	1	0	0	0	6849	1435	50	4	2354	4	GRM7	3	7620917	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	247	7620917	190401513	3602	11314											
LMCD1	29995	broad.mit.edu	37	chr3	8590439	8590439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcaagcaatataagagCgaggccctcggcgtgggaga	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8590439C>T	ENST00000157600.3	+	4	805	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_ENST00000535732.1_Silent_p.S191S|LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1_ENST00000454244.1_Silent_p.S118S|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	191	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587													False	0	False	3:8590439	0	T	8590439	C	T	8590439	2	4	88	1	0	0	0	0	0	0	0	1	8897	767	27	1		1	LMCD1	3	8590439	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	969522	8590439	189431991	3603	11315											
OXTR	5021	broad.mit.edu	37	chr3	8794867	8794867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagatccaggggttgcagcaGctgttgaggctggccaggag	17	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8794867G>T	ENST00000316793.3	-	4	1590	c.966C>A	c.(964-966)agC>agA	p.S322R	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	322					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGTTGCAGCAGCTGTTGAGGC	0.592													False	0	False	3:8794867	0	T	8794867	G	T	8794867	3	4	88	1	0	0	0	0	1	0	0	0	11406	962	34	3	207	3	OXTR	3	8794867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204428	8794867	189227563	3604	11316											
SRGAP3	9901	broad.mit.edu	37	chr3	9032472	9032472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggcgggctgtgtgtgtcGcccccgcttcggcgtctggg	19	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9032472G>A	ENST00000383836.3	-	21	3037	c.2610C>T	c.(2608-2610)ggC>ggT	p.G870G	SRGAP3_ENST00000360413.3_Silent_p.G846G	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	870					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGTGTGTGTCGCCCCCGCTTC	0.701			T	RAF1	pilocytic astrocytoma								False	0	True	3:9032472	0	A	9032472	G	A	9032472	2	1	88	1	0	0	0	0	0	0	0	1	15229	1074	38	1		1	SRGAP3	3	9032472	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237605	9032472	188989958	3605	11317											
SRGAP3	9901	broad.mit.edu	37	chr3	9055047	9055047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtccctctagctcccGggggctggggaagatggctt	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9055047G>A	ENST00000383836.3	-	17	2519	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R674W	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	698					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTAGCTCCCGGGGGCTGGGG	0.473			T	RAF1	pilocytic astrocytoma								False	0	True	3:9055047	0	A	9055047	G	A	9055047	3	1	88	1	0	0	0	0	1	0	0	0	15229	1115	39	1	1231	1	SRGAP3	3	9055047	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22575	9055047	188967383	3606	11318											
SRGAP3	9901	broad.mit.edu	37	chr3	9101937	9101937	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatcagatcagagacatcaTggatgtagtatttgcttata	9	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9101937T>C	ENST00000383836.3	-	6	1206	c.779A>G	c.(778-780)cAt>cGt	p.H260R	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.H260R	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	260					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGAGACATCATGGATGTAGTA	0.542			T	RAF1	pilocytic astrocytoma								False	0	False	3:9101937	0	C	9101937	T	C	9101937	3	2	88	1	0	0	0	0	1	0	0	0	15229	1464	51	4	2623	4	SRGAP3	3	9101937	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46890	9101937	188920493	3607	11319											
SETD5	55209	broad.mit.edu	37	chr3	9486952	9486952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accagcaatcacaagaagttCcagaaaaagtaactgtatcc	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9486952C>T	ENST00000402466.1	+	13	1882	c.1114C>T	c.(1114-1116)Cca>Tca	p.P372S	SETD5_ENST00000402198.1_Missense_Mutation_p.P470S|SETD5_ENST00000302463.6_Missense_Mutation_p.P372S|SETD5_ENST00000406341.1_Missense_Mutation_p.P470S|SETD5_ENST00000407969.1_Missense_Mutation_p.P489S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	470	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACAAGAAGTTCCAGAAAAAGT	0.468													False	0	False	3:9486952	0	T	9486952	C	T	9486952	3	4	88	1	0	0	0	0	1	0	0	0	14215	855	30	2	1446	2	SETD5	3	9486952	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385015	9486952	188535478	3608	11320											
SETD5	55209	broad.mit.edu	37	chr3	9506325	9506325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacatctcttactactgCtagtcgctgcaacactcctc	5	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9506325C>T	ENST00000402466.1	+	19	3167	c.2399C>T	c.(2398-2400)gCt>gTt	p.A800V	SETD5_ENST00000402198.1_Missense_Mutation_p.A898V|SETD5_ENST00000302463.6_Missense_Mutation_p.A800V|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000406341.1_Missense_Mutation_p.A898V|SETD5_ENST00000407969.1_Missense_Mutation_p.A917V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	898										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CTTACTACTGCTAGTCGCTGC	0.468													False	0	False	3:9506325	0	T	9506325	C	T	9506325	3	4	88	1	0	0	0	0	1	0	0	0	14215	797	28	2	2755	2	SETD5	3	9506325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19373	9506325	188516105	3609	11321											
SETD5	55209	broad.mit.edu	37	chr3	9514972	9514972	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagctaaggaaaattctgCtggtgggggaggtgactctg	16	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9514972C>A	ENST00000402466.1	+	21	3722	c.2954C>A	c.(2953-2955)gCt>gAt	p.A985D	SETD5_ENST00000402198.1_Missense_Mutation_p.A1083D|SETD5_ENST00000302463.6_Missense_Mutation_p.A985D|SETD5_ENST00000406341.1_Missense_Mutation_p.A1083D|SETD5_ENST00000407969.1_Missense_Mutation_p.A1102D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1083				Y -> H (in Ref. 2; CAH10497).						NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAAAATTCTGCTGGTGGGGGA	0.488													False	0	False	3:9514972	0	A	9514972	C	A	9514972	3	1	88	1	0	0	0	0	1	0	0	0	14215	797	28	3	3318	3	SETD5	3	9514972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8647	9514972	188507458	3610	11322											
SETD5	55209	broad.mit.edu	37	chr3	9517250	9517250	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaggacatcctacacaGtctccaggatacagttatcg	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9517250G>T	ENST00000402466.1	+	24	4278	c.3510G>T	c.(3508-3510)caG>caT	p.Q1170H	SETD5_ENST00000402198.1_Missense_Mutation_p.Q1268H|SETD5_ENST00000302463.6_Missense_Mutation_p.Q1170H|SETD5_ENST00000406341.1_Missense_Mutation_p.Q1268H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q1287H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1268	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ATCCTACACAGTCTCCAGGAT	0.522													False	0	False	3:9517250	0	T	9517250	G	T	9517250	3	4	88	1	0	0	0	0	1	0	0	0	14215	1020	36	3	3886	3	SETD5	3	9517250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2278	9517250	188505180	3611	11323											
MTMR14	64419	broad.mit.edu	37	chr3	9726291	9726291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcgggctgctggtacaCtgtatctcaggctgggatcg	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9726291C>T	ENST00000296003.4	+	11	1109	c.987C>T	c.(985-987)caC>caT	p.H329H	MTMR14_ENST00000351233.5_Silent_p.H329H|MTMR14_ENST00000420925.1_Silent_p.H83H|MTMR14_ENST00000353332.5_Silent_p.H329H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	329						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TGCTGGTACACTGTATCTCAG	0.582													False	0	False	3:9726291	0	T	9726291	C	T	9726291	2	4	88	1	0	0	0	0	0	0	0	1	10009	564	20	2		2	MTMR14	3	9726291	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209041	9726291	188296139	3612	11324											
MTMR14	64419	broad.mit.edu	37	chr3	9726338	9726338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcatctccctcctgcGcctttccttgtgggctgtga	8	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9726338G>A	ENST00000296003.4	+	11	1156	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	MTMR14_ENST00000351233.5_Missense_Mutation_p.R345H|MTMR14_ENST00000420925.1_Missense_Mutation_p.R99H|MTMR14_ENST00000353332.5_Missense_Mutation_p.R345H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	345						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCCCTCCTGCGCCTTTCCTTG	0.587													False	0	False	3:9726338	0	A	9726338	G	A	9726338	3	1	88	1	0	0	0	0	1	0	0	0	10009	1087	38	1	1076	1	MTMR14	3	9726338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	9726338	188296092	3613	11325											
CPNE9	151835	broad.mit.edu	37	chr3	9746668	9746668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggaaaagcaaaatctgCgcttcgatgtgtgaggcccc	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9746668C>T	ENST00000383832.3	+	4	440	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	CPNE9_ENST00000383831.3_Missense_Mutation_p.R84C	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	84	C2 1.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GCAAAATCTGCGCTTCGATGT	0.602													False	0	False	3:9746668	0	T	9746668	C	T	9746668	3	4	88	1	0	0	0	0	1	0	0	0	3842	768	27	1	264	1	CPNE9	3	9746668	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20330	9746668	188275762	3614	11326											
BRPF1	7862	broad.mit.edu	37	chr3	9783725	9783725	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttagatcaaggttcagcagaTtgccatggagatgcagctga	12	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9783725T>A	ENST00000383829.2	+	6	2275	c.1871T>A	c.(1870-1872)aTt>aAt	p.I624N	BRPF1_ENST00000424362.1_Missense_Mutation_p.I624N|BRPF1_ENST00000457855.1_Missense_Mutation_p.I624N|BRPF1_ENST00000302054.3_Missense_Mutation_p.I624N|BRPF1_ENST00000433861.2_Missense_Mutation_p.I624N	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	624	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GTTCAGCAGATTGCCATGGAG	0.542													False	0	False	3:9783725	0	A	9783725	T	A	9783725	3	1	88	1	0	0	0	0	1	0	0	0	1527	1493	52	5	1889	5	BRPF1	3	9783725	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37057	9783725	188238705	3615	11327											
BRPF1	7862	broad.mit.edu	37	chr3	9786068	9786068	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccccagccacggaggcagTcctgtggggcccccccagct	12	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9786068T>G	ENST00000383829.2	+	9	3200	c.2796T>G	c.(2794-2796)agT>agG	p.S932R	BRPF1_ENST00000424362.1_Missense_Mutation_p.S925R|BRPF1_ENST00000457855.1_Missense_Mutation_p.S926R|BRPF1_ENST00000302054.3_Missense_Mutation_p.S926R|BRPF1_ENST00000433861.2_Intron	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	926	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACGGAGGCAGTCCTGTGGGGC	0.657													False	0	False	3:9786068	0	G	9786068	T	G	9786068	3	3	88	1	0	0	0	0	1	0	0	0	1527	1664	58	4	2826	4	BRPF1	3	9786068	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2343	9786068	188236362	3616	11328											
CAMK1	8536	broad.mit.edu	37	chr3	9804668	9804668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacctggaagatgaggCggctggcgtcccgctccgtg	15	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9804668C>T	ENST00000256460.3	-	5	536	c.359G>A	c.(358-360)cGc>cAc	p.R120H	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	120	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GAAGATGAGGCGGCTGGCGTC	0.587													False	0	False	3:9804668	0	T	9804668	C	T	9804668	3	4	88	1	0	0	0	0	1	0	0	0	2616	768	27	1	785	1	CAMK1	3	9804668	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18600	9804668	188217762	3617	11329											
CAMK1	8536	broad.mit.edu	37	chr3	9807492	9807492	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgccttccttgccctccaGggcctccttggcaatgcatt	9	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9807492G>T	ENST00000256460.3	-	3	343	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	OGG1_ENST00000449570.2_Splice_Site|OGG1_ENST00000383826.5_Splice_Site|OGG1_ENST00000302036.7_Splice_Site|OGG1_ENST00000302008.8_Splice_Site|OGG1_ENST00000349503.5_Splice_Site	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	56	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTGCCCTCCAGGGCCTCCTTG	0.597													False	0	True	3:9807492	0	T	9807492	G	T	9807492	3	4	88	1	0	0	0	0	1	0	0	0	2616	1014	35	3	986	3	CAMK1	3	9807492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2824	9807492	188214938	3618	11330											
OGG1	4968	broad.mit.edu	37	chr3	9807626	9807626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actggaaccccagcttccctCcagcctctcctccattccct	4	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9807626C>A	ENST00000302036.7	+	7	1425	c.1082C>A	c.(1081-1083)tCc>tAc	p.S361Y	CAMK1_ENST00000256460.3_Intron|OGG1_ENST00000449570.2_3'UTR|OGG1_ENST00000383826.5_3'UTR|OGG1_ENST00000302008.8_3'UTR|OGG1_ENST00000349503.5_Missense_Mutation_p.S294Y	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	0					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CAGCTTCCCTCCAGCCTCTCC	0.577								Base excision repair (BER), DNA glycosylases					False	0	False	3:9807626	0	A	9807626	C	A	9807626	3	1	88	1	0	0	0	0	1	0	0	0	10913	855	30	3	1528	3	OGG1	3	9807626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134	9807626	188214804	3619	11331											
TTLL3	26140	broad.mit.edu	37	chr3	9862345	9862345	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacttggcccacatggacatCgacaaggacctggaggcccc	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9862345C>T	ENST00000383827.1	+	1	2290	c.9C>T	c.(7-9)atC>atT	p.I3I	TTLL3_ENST00000397241.1_Silent_p.I3I|TTLL3_ENST00000430793.1_Silent_p.I3I|TTLL3_ENST00000547186.1_Silent_p.I215I|TTLL3_ENST00000427853.3_Silent_p.I3I|TTLL3_ENST00000455274.1_Silent_p.I3I|TTLL3_ENST00000426895.4_Silent_p.I358I|ARPC4-TTLL3_ENST00000397256.1_Silent_p.I276I			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	215					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACATGGACATCGACAAGGACC	0.587													False	0	False	3:9862345	0	T	9862345	C	T	9862345	2	4	88	1	0	0	0	0	0	0	0	1	16812	874	31	1		1	TTLL3	3	9862345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54719	9862345	188160085	3620	11332											
TTLL3	26140	broad.mit.edu	37	chr3	9874919	9874919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgctgacccagcgaggCtctggggaaggcaaggactc	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9874919C>T	ENST00000547186.1	+	11	1902	c.1686C>T	c.(1684-1686)ggC>ggT	p.G562G	TTLL3_ENST00000397241.1_Intron|TTLL3_ENST00000430793.1_Silent_p.G350G|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000426895.4_Silent_p.G705G|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000383827.1_Intron	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	562					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CCCAGCGAGGCTCTGGGGAAG	0.642													False	0	False	3:9874919	0	T	9874919	C	T	9874919	2	4	88	1	0	0	0	0	0	0	0	1	16812	784	28	2		2	TTLL3	3	9874919	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12574	9874919	188147511	3621	11333											
IL17RC	84818	broad.mit.edu	37	chr3	9960032	9960032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctagggcactgggaagaGcctgaagatgaggaaaagtt	14	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9960032G>A	ENST00000295981.3	+	4	725	c.507G>A	c.(505-507)gaG>gaA	p.E169E	IL17RC_ENST00000455057.1_Silent_p.E98E|IL17RC_ENST00000403601.3_Silent_p.E98E|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Silent_p.E98E|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000413608.1_Silent_p.E98E	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	169						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACTGGGAAGAGCCTGAAGATG	0.607													False	0	False	3:9960032	0	A	9960032	G	A	9960032	2	1	88	1	0	0	0	0	0	0	0	1	7691	962	34	2		2	IL17RC	3	9960032	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85113	9960032	188062398	3622	11334											
IL17RC	84818	broad.mit.edu	37	chr3	9970068	9970068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggctgctggacgcaccGtgctcgctgcccgcagaagc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9970068G>A	ENST00000295981.3	+	11	1388	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	IL17RC_ENST00000455057.1_Silent_p.P304P|IL17RC_ENST00000403601.3_Silent_p.P319P|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Silent_p.P304P|IL17RC_ENST00000416074.2_Silent_p.P175P|IL17RC_ENST00000413608.1_Silent_p.P319P	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	390						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGACGCACCGTGCTCGCTGC	0.682													False	0	False	3:9970068	0	A	9970068	G	A	9970068	2	1	88	1	0	0	0	0	0	0	0	1	7691	1132	40	1		1	IL17RC	3	9970068	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10036	9970068	188052362	3623	11335											
IL17RC	84818	broad.mit.edu	37	chr3	9972601	9972601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggacgatgacttgggagCgctatgggcctgccccatgg	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9972601C>T	ENST00000295981.3	+	16	1792	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	IL17RC_ENST00000455057.1_Missense_Mutation_p.A422V|IL17RC_ENST00000403601.3_Missense_Mutation_p.A454V|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Missense_Mutation_p.A439V|IL17RC_ENST00000416074.2_Missense_Mutation_p.A293V|IL17RC_ENST00000413608.1_Missense_Mutation_p.A454V	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	525						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACTTGGGAGCGCTATGGGCC	0.512													False	0	False	3:9972601	0	T	9972601	C	T	9972601	3	4	88	1	0	0	0	0	1	0	0	0	7691	768	27	1	1636	1	IL17RC	3	9972601	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2533	9972601	188049829	3624	11336											
CRELD1	78987	broad.mit.edu	37	chr3	9982689	9982689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttgaggcagaacgcaacGccagccatctggtatgttcg	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9982689G>A	ENST00000383811.3	+	5	1215	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	CRELD1_ENST00000397170.3_Missense_Mutation_p.A206T|CRELD1_ENST00000452070.1_Missense_Mutation_p.A206T|CRELD1_ENST00000326434.5_Missense_Mutation_p.A206T	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	206					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGAACGCAACGCCAGCCATCT	0.642													False	0	True	3:9982689	0	A	9982689	G	A	9982689	3	1	88	1	0	0	0	0	1	0	0	0	3889	1087	38	1	634	1	CRELD1	3	9982689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10088	9982689	188039741	3625	11337											
CRELD1	78987	broad.mit.edu	37	chr3	9982832	9982832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccgatgctcaggacctgaGgaatcaaactgtttgcaatg	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9982832G>T	ENST00000383811.3	+	6	1274	c.675G>T	c.(673-675)gaG>gaT	p.E225D	CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000397170.3_Missense_Mutation_p.E225D|CRELD1_ENST00000452070.1_Missense_Mutation_p.E225D|CRELD1_ENST00000326434.5_Missense_Mutation_p.E225D	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	225					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CAGGACCTGAGGAATCAAACT	0.602													False	0	False	3:9982832	0	T	9982832	G	T	9982832	3	4	88	1	0	0	0	0	1	0	0	0	3889	991	35	3	697	3	CRELD1	3	9982832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143	9982832	188039598	3626	11338											
PRRT3	285368	broad.mit.edu	37	chr3	9988167	9988167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagctgccagaagccgcaGcggctgccccgtcgggtgct	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9988167G>A	ENST00000412055.1	-	4	2819	c.2690C>T	c.(2689-2691)gCt>gTt	p.A897V		NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	897						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						AGAAGCCGCAGCGGCTGCCCC	0.692													False	0	False	3:9988167	0	A	9988167	G	A	9988167	3	1	88	1	0	0	0	0	1	0	0	0	12687	971	34	2	259	2	PRRT3	3	9988167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5335	9988167	188034263	3627	11339											
PRRT3	285368	broad.mit.edu	37	chr3	9991052	9991052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtactgagccaacatcagGggctgctggatcctgctggg	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9991052G>A	ENST00000412055.1	-	2	877	c.748C>T	c.(748-750)Cct>Tct	p.P250S	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.P250S	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	250	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CCAACATCAGGGGCTGCTGGA	0.597													False	0	True	3:9991052	0	A	9991052	G	A	9991052	3	1	88	1	0	0	0	0	1	0	0	0	12687	1232	43	2	2209	2	PRRT3	3	9991052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2885	9991052	188031378	3628	11340											
FANCD2	2177	broad.mit.edu	37	chr3	10107141	10107141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactttgtgtggagagacaGcataacggaaacttggagga	14	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10107141G>A	ENST00000287647.3	+	24	2325	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	FANCD2_ENST00000419585.1_Silent_p.Q744Q|FANCD2_ENST00000383807.1_Silent_p.Q744Q|FANCD2_ENST00000383806.1_Silent_p.Q744Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	744					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGAGAGACAGCATAACGGAA	0.428			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	3:10107141	0	A	10107141	G	A	10107141	2	1	88	1	0	0	0	0	0	0	0	1	5705	962	34	2		2	FANCD2	3	10107141	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116089	10107141	187915289	3629	11341											
FANCD2	2177	broad.mit.edu	37	chr3	10116274	10116274	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataattcccatgcttttttcCgagagctggacattgaggtc	9	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10116274C>T	ENST00000287647.3	+	29	2869	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	FANCD2_ENST00000419585.1_Nonsense_Mutation_p.R926*|FANCD2_ENST00000383807.1_Nonsense_Mutation_p.R926*|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.R926*	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	926					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCTTTTTTCCGAGAGCTGGA	0.398			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	3:10116274	0	T	10116274	C	T	10116274	4	4	88	1	0	0	0	0	0	1	0	0	5705	644	23	1	2886	1	FANCD2	3	10116274	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9133	10116274	187906156	3630	11342											
TATDN2	9797	broad.mit.edu	37	chr3	10291033	10291033	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcgttctggagggcccaGcagccccaagcgcctgaaag	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10291033G>T	ENST00000287652.4	+	2	1200	c.149G>T	c.(148-150)aGc>aTc	p.S50I	TATDN2_ENST00000448281.2_Missense_Mutation_p.S50I	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	50						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGAGGGCCCAGCAGCCCCAAG	0.667													False	0	False	3:10291033	0	T	10291033	G	T	10291033	3	4	88	1	0	0	0	0	1	0	0	0	15674	971	34	3	151	3	TATDN2	3	10291033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174759	10291033	187731397	3631	11343											
TATDN2	9797	broad.mit.edu	37	chr3	10312335	10312335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagccacctggagccaaGcctagaggagggcttcattg	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10312335G>A	ENST00000287652.4	+	4	2520	c.1469G>A	c.(1468-1470)aGc>aAc	p.S490N	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.S490N	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	490						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTGGAGCCAAGCCTAGAGGAG	0.498													False	0	False	3:10312335	0	A	10312335	G	A	10312335	3	1	88	1	0	0	0	0	1	0	0	0	15674	971	34	2	1479	2	TATDN2	3	10312335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21302	10312335	187710095	3632	11344											
SEC13	6396	broad.mit.edu	37	chr3	10342953	10342953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacctgtcttgtcactgctCgttctgctggccctctgtca	8	16	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10342953C>T	ENST00000383801.2	-	10	1170	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	SEC13_ENST00000397117.1_Intron|SEC13_ENST00000397109.3_Missense_Mutation_p.E307K|SEC13_ENST00000337354.4_Missense_Mutation_p.E324K|SEC13_ENST00000350697.3_Missense_Mutation_p.E321K|SEC13_ENST00000492602.1_Intron	NM_001136026.2	NP_001129498.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	321					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TGTCACTGCTCGTTCTGCTGG	0.607													False	0	False	3:10342953	0	T	10342953	C	T	10342953	3	4	88	1	0	0	0	0	1	0	0	0	14061	893	31	1	11	1	SEC13	3	10342953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30618	10342953	187679477	3633	11345											
SEC13	6396	broad.mit.edu	37	chr3	10354403	10354403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaggccacttgccacacaGgaccctcatgactacaaagg	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10354403G>T	ENST00000397117.1	-	4	725	c.134C>A	c.(133-135)cCt>cAt	p.P45H	SEC13_ENST00000397109.3_Missense_Mutation_p.P45H|SEC13_ENST00000383801.2_Missense_Mutation_p.P105H|SEC13_ENST00000337354.4_Missense_Mutation_p.P62H|SEC13_ENST00000350697.3_Missense_Mutation_p.P59H			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	59					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TTGCCACACAGGACCCTCATG	0.537													False	0	True	3:10354403	0	T	10354403	G	T	10354403	3	4	88	1	0	0	0	0	1	0	0	0	14061	1000	35	3	816	3	SEC13	3	10354403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11450	10354403	187668027	3634	11346											
ATP2B2	491	broad.mit.edu	37	chr3	10400486	10400486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggggaagtcgcggtaGgccacgcagatagtgcggag	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10400486G>A	ENST00000397077.1	-	13	2465	c.1890C>T	c.(1888-1890)gcC>gcT	p.A630A	ATP2B2_ENST00000383800.4_Silent_p.A630A|ATP2B2_ENST00000352432.4_Silent_p.A675A|ATP2B2_ENST00000343816.4_Silent_p.A661A|ATP2B2_ENST00000360273.2_Silent_p.A675A			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	675					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGTCGCGGTAGGCCACGCAGA	0.632													False	0	False	3:10400486	0	A	10400486	G	A	10400486	2	1	88	1	0	0	0	0	0	0	0	1	1144	987	35	2		2	ATP2B2	3	10400486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46083	10400486	187621944	3635	11347											
ATP2B2	491	broad.mit.edu	37	chr3	10401761	10401761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccagcaggccgcactccGtcttgttgcccacctgccga	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10401761G>A	ENST00000397077.1	-	12	2146	c.1571C>T	c.(1570-1572)aCg>aTg	p.T524M	ATP2B2_ENST00000383800.4_Missense_Mutation_p.T524M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.T569M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T555M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T569M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	569					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCCGCACTCCGTCTTGTTGCC	0.647													False	0	False	3:10401761	0	A	10401761	G	A	10401761	3	1	88	1	0	0	0	0	1	0	0	0	1144	1145	40	1	2069	1	ATP2B2	3	10401761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1275	10401761	187620669	3636	11348											
SLC6A11	6538	broad.mit.edu	37	chr3	10953823	10953823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttctcctatgccatttgcCtgggctgtctgaccgctctg	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10953823C>A	ENST00000254488.2	+	7	1006	c.940C>A	c.(940-942)Ctg>Atg	p.L314M		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	314					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TGCCATTTGCCTGGGCTGTCT	0.493													False	0	False	3:10953823	0	A	10953823	C	A	10953823	3	1	88	1	0	0	0	0	1	0	0	0	14754	680	24	3	966	3	SLC6A11	3	10953823	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	552062	10953823	187068607	3637	11349											
SLC6A11	6538	broad.mit.edu	37	chr3	10970960	10970960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccggaggggttaccggCgggagctgctcatcctagcc	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10970960C>T	ENST00000254488.2	+	10	1372	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	436					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGGTTACCGGCGGGAGCTGCT	0.552													False	0	True	3:10970960	0	T	10970960	C	T	10970960	3	4	88	1	0	0	0	0	1	0	0	0	14754	759	27	1	1344	1	SLC6A11	3	10970960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17137	10970960	187051470	3638	11350											
SLC6A11	6538	broad.mit.edu	37	chr3	10974869	10974869	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttccagctctttgactcCtatgccgccagtgggatgtg	10	12	2	1	rs139042454		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10974869C>A	ENST00000254488.2	+	11	1470	c.1404C>A	c.(1402-1404)tcC>tcA	p.S468S		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	468					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TCTTTGACTCCTATGCCGCCA	0.592													False	0	False	3:10974869	0	A	10974869	C	A	10974869	2	1	88	1	0	0	0	0	0	0	0	1	14754	668	24	3		3	SLC6A11	3	10974869	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3909	10974869	187047561	3639	11351											
SLC6A11	6538	broad.mit.edu	37	chr3	10976731	10976731	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggatcttcatcttctTcttgatcaagtacaagccac	8	11	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10976731T>G	ENST00000254488.2	+	13	1658	c.1592T>G	c.(1591-1593)tTc>tGc	p.F531C		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	531					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TTCATCTTCTTCTTGATCAAG	0.582													False	0	True	3:10976731	0	G	10976731	T	G	10976731	3	3	88	1	0	0	0	0	1	0	0	0	14754	1783	62	4	1642	4	SLC6A11	3	10976731	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1862	10976731	187045699	3640	11352											
SLC6A1	6529	broad.mit.edu	37	chr3	11067953	11067953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctgctgcatcaattcgtGcaccagcatgttcgcaggat	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11067953G>A	ENST00000287766.4	+	10	1407	c.986G>A	c.(985-987)tGc>tAc	p.C329Y	SLC6A1_ENST00000536032.1_Missense_Mutation_p.C151Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	329					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ATCAATTCGTGCACCAGCATG	0.577													False	0	False	3:11067953	0	A	11067953	G	A	11067953	3	1	88	1	0	0	0	0	1	0	0	0	14753	1319	46	2	1016	2	SLC6A1	3	11067953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91222	11067953	186954477	3641	11353											
ATG7	10533	broad.mit.edu	37	chr3	11340278	11340278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacccagaagaagctgaacGagtatcggctggatgaagct	13	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11340278G>A	ENST00000354449.3	+	2	134	c.109G>A	c.(109-111)Gag>Aag	p.E37K	ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000354956.5_Missense_Mutation_p.E37K|ATG7_ENST00000446450.2_Missense_Mutation_p.E37K	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	37					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GAAGCTGAACGAGTATCGGCT	0.453													False	0	False	3:11340278	0	A	11340278	G	A	11340278	3	1	88	1	0	0	0	0	1	0	0	0	1105	1059	37	1	111	1	ATG7	3	11340278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	272325	11340278	186682152	3642	11354											
ATG7	10533	broad.mit.edu	37	chr3	11340313	11340313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagctcccaaggacattaaGggttattactacaatggtag	10	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11340313G>T	ENST00000354449.3	+	2	169	c.144G>T	c.(142-144)aaG>aaT	p.K48N	ATG7_ENST00000469654.2_3'UTR|ATG7_ENST00000354956.5_Missense_Mutation_p.K48N|ATG7_ENST00000446450.2_Missense_Mutation_p.K48N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	48					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGACATTAAGGGTTATTACT	0.428													False	0	True	3:11340313	0	T	11340313	G	T	11340313	3	4	88	1	0	0	0	0	1	0	0	0	1105	991	35	3	146	3	ATG7	3	11340313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35	11340313	186682117	3643	11355											
ATG7	10533	broad.mit.edu	37	chr3	11596299	11596299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagatctgggacatgagCgatgatgagaccatctgaga	13	7	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11596299C>T	ENST00000354449.3	+	19	2119	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	ATG7_ENST00000354956.5_Silent_p.S671S|ATG7_ENST00000446450.2_Silent_p.S618S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	698					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GGGACATGAGCGATGATGAGA	0.627													False	0	False	3:11596299	0	T	11596299	C	T	11596299	2	4	88	1	0	0	0	0	0	0	0	1	1105	767	27	1		1	ATG7	3	11596299	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255986	11596299	186426131	3644	11356											
VGLL4	9686	broad.mit.edu	37	chr3	11600188	11600188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagctttggcaaagtggtCgtccacggagcccgtgatgg	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11600188C>T	ENST00000273038.3	-	6	1080	c.715G>A	c.(715-717)Gac>Aac	p.D239N	VGLL4_ENST00000451674.2_Missense_Mutation_p.D159N|VGLL4_ENST00000424529.2_Missense_Mutation_p.D155N|VGLL4_ENST00000430365.2_Missense_Mutation_p.D245N|VGLL4_ENST00000404339.1_Missense_Mutation_p.D244N|VGLL4_ENST00000413604.1_Missense_Mutation_p.D180N	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GCAAAGTGGTCGTCCACGGAG	0.642													False	0	False	3:11600188	0	T	11600188	C	T	11600188	3	4	88	1	0	0	0	0	1	0	0	0	17245	884	31	1	161	1	VGLL4	3	11600188	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3889	11600188	186422242	3645	11357											
SYN2	6854	broad.mit.edu	37	chr3	12203526	12203526	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattaggtcaaagtggaaaaCcactacgacttccaggacat	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12203526C>A	ENST00000432424.2	+	0	1024							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AAGTGGAAAACCACTACGACT	0.527													False	0	True	3:12203526	0	A	12203526	C	A	12203526	1	1	88	0	1	0	0	0	0	0	0	0	15523	506	18	3		3	SYN2	3	12203526	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	603338	12203526	185818904	3646	11358											
PPARG	5468	broad.mit.edu	37	chr3	12458305	12458305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcaaagaggtggccatcCgcatctttcagggctgccag	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12458305C>T	ENST00000397026.2	+	8	1239	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	PPARG_ENST00000397012.2_Missense_Mutation_p.R280C|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000287820.6_Missense_Mutation_p.R308C|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397015.2_Missense_Mutation_p.R280C|PPARG_ENST00000309576.6_Missense_Mutation_p.R280C|PPARG_ENST00000397010.2_Missense_Mutation_p.R280C			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	308					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	GGTGGCCATCCGCATCTTTCA	0.463			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						False	0	False	3:12458305	0	T	12458305	C	T	12458305	3	4	88	1	0	0	0	0	1	0	0	0	12368	652	23	1	944	1	PPARG	3	12458305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254779	12458305	185564125	3647	11359											
TSEN2	80746	broad.mit.edu	37	chr3	12570396	12570396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctttgcagtgctatatcGgaaaggccctccattttacc	7	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12570396G>A	ENST00000444864.1	+	8	1418	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q	TSEN2_ENST00000284995.6_Missense_Mutation_p.R370Q|TSEN2_ENST00000383797.5_Missense_Mutation_p.R353Q|TSEN2_ENST00000314571.7_Missense_Mutation_p.R344Q|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000415684.1_Missense_Mutation_p.R344Q|TSEN2_ENST00000402228.3_Missense_Mutation_p.R370Q|TSEN2_ENST00000454502.2_Missense_Mutation_p.R311Q	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	370					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GTGCTATATCGGAAAGGCCCT	0.338													False	0	False	3:12570396	0	A	12570396	G	A	12570396	3	1	88	1	0	0	0	0	1	0	0	0	16695	1116	39	1	1139	1	TSEN2	3	12570396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112091	12570396	185452034	3648	11360											
MKRN2	23609	broad.mit.edu	37	chr3	12613662	12613662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccccgagatgaagccGcattcctacctggatgccat	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12613662G>A	ENST00000170447.7	+	4	569	c.432G>A	c.(430-432)ccG>ccA	p.P144P	MKRN2_ENST00000411987.1_Silent_p.P101P|MKRN2_ENST00000448482.1_Silent_p.P142P	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	144						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AGATGAAGCCGCATTCCTACC	0.612													False	0	False	3:12613662	0	A	12613662	G	A	12613662	2	1	88	1	0	0	0	0	0	0	0	1	9674	1074	38	1		1	MKRN2	3	12613662	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43266	12613662	185408768	3649	11361											
MKRN2	23609	broad.mit.edu	37	chr3	12616471	12616471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctgcatccggcagtggCggtgtgccaaacagtttgaa	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12616471C>T	ENST00000170447.7	+	5	960	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	MKRN2_ENST00000411987.1_Missense_Mutation_p.R232W|MKRN2_ENST00000448482.1_Missense_Mutation_p.R273W	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	275						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CCGGCAGTGGCGGTGTGCCAA	0.473													False	0	False	3:12616471	0	T	12616471	C	T	12616471	3	4	88	1	0	0	0	0	1	0	0	0	9674	759	27	1	841	1	MKRN2	3	12616471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2809	12616471	185405959	3650	11362											
RAF1	5894	broad.mit.edu	37	chr3	12626108	12626108	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatggctcggaagcgctccGgttgatcttcggtagagagt	16	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12626108G>T	ENST00000251849.4	-	17	2291	c.1852C>A	c.(1852-1854)Cgg>Agg	p.R618R	RAF1_ENST00000542177.1_Silent_p.R537R|RAF1_ENST00000442415.2_Silent_p.R638R|RAF1_ENST00000534997.1_Silent_p.R403R	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	618					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GAAGCGCTCCGGTTGATCTTC	0.532			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				False	0	False	3:12626108	0	T	12626108	G	T	12626108	2	4	88	1	0	0	0	0	0	0	0	1	13081	1115	39	3		3	RAF1	3	12626108	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9637	12626108	185396322	3651	11363											
CAND2	23066	broad.mit.edu	37	chr3	12854865	12854865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggagcagatggagacagaGgatagtgaattcagtgagca	16	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12854865G>T	ENST00000456430.2	+	7	1025	c.984G>T	c.(982-984)gaG>gaT	p.E328D	CAND2_ENST00000295989.5_Missense_Mutation_p.E235D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	328					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGGAGACAGAGGATAGTGAAT	0.537													False	0	False	3:12854865	0	T	12854865	G	T	12854865	3	4	88	1	0	0	0	0	1	0	0	0	2636	991	35	3	1010	3	CAND2	3	12854865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228757	12854865	185167565	3652	11364											
CAND2	23066	broad.mit.edu	37	chr3	12856659	12856659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagtgaagacgagtacagCgatgacgatgacatgagctg	15	6	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12856659C>T	ENST00000456430.2	+	8	1067	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	CAND2_ENST00000295989.5_Silent_p.S249S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	342					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACGAGTACAGCGATGACGATG	0.612													False	0	False	3:12856659	0	T	12856659	C	T	12856659	2	4	88	1	0	0	0	0	0	0	0	1	2636	767	27	1		1	CAND2	3	12856659	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1794	12856659	185165771	3653	11365											
CAND2	23066	broad.mit.edu	37	chr3	12858054	12858054	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaagattgcagccgaggcCctggtggtgctgcaggagct	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12858054C>A	ENST00000456430.2	+	10	1664	c.1623C>A	c.(1621-1623)gcC>gcA	p.A541A	CAND2_ENST00000295989.5_Silent_p.A448A	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	541					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCGAGGCCCTGGTGGTGC	0.617													False	0	True	3:12858054	0	A	12858054	C	A	12858054	2	1	88	1	0	0	0	0	0	0	0	1	2636	610	22	3		3	CAND2	3	12858054	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1395	12858054	185164376	3654	11366											
CAND2	23066	broad.mit.edu	37	chr3	12875277	12875277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagctggttctgtgaagcaGgagtttgaaaagcaagatga	13	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12875277G>T	ENST00000456430.2	+	15	3548	c.3507G>T	c.(3505-3507)caG>caT	p.Q1169H	CAND2_ENST00000295989.5_Missense_Mutation_p.Q1052H	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1169					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGTGAAGCAGGAGTTTGAAA	0.547													False	0	False	3:12875277	0	T	12875277	G	T	12875277	3	4	88	1	0	0	0	0	1	0	0	0	2636	991	35	3	3565	3	CAND2	3	12875277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17223	12875277	185147153	3655	11367											
IQSEC1	9922	broad.mit.edu	37	chr3	12957129	12957129	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgagcttctccaccttctGcacctgggacacatggtcct	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12957129G>A	ENST00000273221.4	-	7	2383	c.2167C>T	c.(2167-2169)Cag>Tag	p.Q723*		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	723					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCACCTTCTGCACCTGGGAC	0.602													False	0	False	3:12957129	0	A	12957129	G	A	12957129	4	1	88	1	0	0	0	0	0	1	0	0	7867	1328	46	2	1301	2	IQSEC1	3	12957129	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81852	12957129	185065301	3656	11368											
IQSEC1	9922	broad.mit.edu	37	chr3	12962091	12962091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggttgcagatgcagtagCgctggctgcgggccgggagg	20	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12962091C>T	ENST00000273221.4	-	6	2117	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	634	SEC7.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGCAGTAGCGCTGGCTGCG	0.632													False	0	True	3:12962091	0	T	12962091	C	T	12962091	3	4	88	1	0	0	0	0	1	0	0	0	7867	768	27	1	1571	1	IQSEC1	3	12962091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4962	12962091	185060339	3657	11369											
IQSEC1	9922	broad.mit.edu	37	chr3	12978092	12978092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacatggagctgcgcaagcGctcgaagttcttgttcatct	11	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12978092G>A	ENST00000273221.4	-	3	682	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	156	IQ.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGCGCAAGCGCTCGAAGTTC	0.577													False	0	False	3:12978092	0	A	12978092	G	A	12978092	3	1	88	1	0	0	0	0	1	0	0	0	7867	1087	38	1	3018	1	IQSEC1	3	12978092	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16001	12978092	185044338	3658	11370											
NUP210	23225	broad.mit.edu	37	chr3	13361358	13361358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagaaggtcagggtagtgGacagaggcccttggctgcca	17	8	1	2	rs145275394		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13361358G>A	ENST00000254508.5	-	37	5370	c.5288C>T	c.(5287-5289)tCc>tTc	p.S1763F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1763					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGGGTAGTGGACAGAGGCCC	0.612													False	0	False	3:13361358	0	A	13361358	G	A	13361358	3	1	88	1	0	0	0	0	1	0	0	0	10828	1174	41	2	391	2	NUP210	3	13361358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383266	13361358	184661072	3659	11371											
NUP210	23225	broad.mit.edu	37	chr3	13381381	13381381	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgatgaccaccttgccggtCtctgcatccactgcctgcac	8	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13381381C>A	ENST00000254508.5	-	25	3526	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1148					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ccttgccGGTCTCTGCATCCA	0.592													False	0	False	3:13381381	0	A	13381381	C	A	13381381	3	1	88	1	0	0	0	0	1	0	0	0	10828	912	32	3	2283	3	NUP210	3	13381381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20023	13381381	184641049	3660	11372											
NUP210	23225	broad.mit.edu	37	chr3	13419017	13419017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatggtgatttcatacaggCggccggtctccagcacccac	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13419017C>T	ENST00000254508.5	-	9	1173	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	364					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTCATACAGGCGGCCGGTCTC	0.567													False	0	False	3:13419017	0	T	13419017	C	T	13419017	3	4	88	1	0	0	0	0	1	0	0	0	10828	768	27	1	4700	1	NUP210	3	13419017	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37636	13419017	184603413	3661	11373											
FBLN2	2199	broad.mit.edu	37	chr3	13660486	13660486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcctctaacaccatcccGctgccactgccgcagcccaa	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13660486G>A	ENST00000404922.3	+	7	2141	c.2022G>A	c.(2020-2022)ccG>ccA	p.P674P	FBLN2_ENST00000535798.1_Silent_p.P700P|FBLN2_ENST00000492059.1_Silent_p.P674P|FBLN2_ENST00000295760.7_Silent_p.P674P	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	674						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACACCATCCCGCTGCCACTGC	0.622													False	0	True	3:13660486	0	A	13660486	G	A	13660486	2	1	88	1	0	0	0	0	0	0	0	1	5739	1074	38	1		1	FBLN2	3	13660486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241469	13660486	184361944	3662	11374											
FBLN2	2199	broad.mit.edu	37	chr3	13672837	13672837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctctctgacagacatcgacGagtgtgctcaaggcgccggc	12	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13672837G>A	ENST00000404922.3	+	16	3213	c.3094G>A	c.(3094-3096)Gag>Aag	p.E1032K	FBLN2_ENST00000535798.1_Missense_Mutation_p.E1011K|FBLN2_ENST00000492059.1_Missense_Mutation_p.E1032K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E985K	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1028	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGACATCGACGAGTGTGCTCA	0.617													False	0	False	3:13672837	0	A	13672837	G	A	13672837	3	1	88	1	0	0	0	0	1	0	0	0	5739	1059	37	1	1842	1	FBLN2	3	13672837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12351	13672837	184349593	3663	11375											
CHCHD4	131474	broad.mit.edu	37	chr3	14154654	14154654	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggccattcccccaaggcaTgggcagttccagttaatgtt	10	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14154654T>C	ENST00000295767.5	-	4	525	c.201A>G	c.(199-201)ccA>ccG	p.P67P	CHCHD4_ENST00000396914.3_Silent_p.P54P	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	54	CHCH.				protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCCCAAGGCATGGGCAGTTCC	0.463													False	0	True	3:14154654	0	C	14154654	T	C	14154654	2	2	88	1	0	0	0	0	0	0	0	1	3341	1451	51	4		4	CHCHD4	3	14154654	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	481817	14154654	183867776	3664	11376											
XPC	7508	broad.mit.edu	37	chr3	14187592	14187592	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccgcttctgcttgagagCtggtcccctcctcttcatca	9	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14187592C>A	ENST00000285021.7	-	16	2886	c.2672G>T	c.(2671-2673)aGc>aTc	p.S891I	AC093495.4_ENST00000420253.1_RNA|XPC_ENST00000449060.2_Missense_Mutation_p.S854I|RP11-434D12.1_ENST00000601399.1_Intron|AC093495.4_ENST00000428681.3_RNA|RP11-434D12.1_ENST00000608606.1_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	891	Interaction with ERCC2 and GTF2H1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTTGAGAGCTGGTCCCCTC	0.577			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	3:14187592	0	A	14187592	C	A	14187592	3	1	88	1	0	0	0	0	1	0	0	0	17525	797	28	3	154	3	XPC	3	14187592	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32938	14187592	183834838	3665	11377											
XPC	7508	broad.mit.edu	37	chr3	14190179	14190179	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagctggacacagccaataGgcatcatgctgggcaggaag	13	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14190179G>T	ENST00000285021.7	-	13	2517	c.2303C>A	c.(2302-2304)cCt>cAt	p.P768H	XPC_ENST00000449060.2_Missense_Mutation_p.P731H	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	768	DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAGCCAATAGGCATCATGCT	0.582			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	3:14190179	0	T	14190179	G	T	14190179	3	4	88	1	0	0	0	0	1	0	0	0	17525	1000	35	3	535	3	XPC	3	14190179	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2587	14190179	183832251	3666	11378											
XPC	7508	broad.mit.edu	37	chr3	14190224	14190224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacattcccaaactcgttcCggggcacctgtgtcgggtga	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14190224C>A	ENST00000285021.7	-	13	2472	c.2258G>T	c.(2257-2259)cGg>cTg	p.R753L	XPC_ENST00000449060.2_Missense_Mutation_p.R716L	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	753	Minimal sensor domain involved in damage recognition.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAACTCGTTCCGGGGCACCTG	0.602			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	True	3:14190224	0	A	14190224	C	A	14190224	3	1	88	1	0	0	0	0	1	0	0	0	17525	652	23	3	580	3	XPC	3	14190224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	14190224	183832206	3667	11379											
XPC	7508	broad.mit.edu	37	chr3	14207064	14207064	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttcgatagaagccatttgCtagcaggcagagaaggtgaa	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14207064C>A	ENST00000285021.7	-	6	857	c.643G>T	c.(643-645)Gca>Tca	p.A215S	XPC_ENST00000449060.2_Missense_Mutation_p.A178S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	215					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGCCATTTGCTAGCAGGCAG	0.527			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	3:14207064	0	A	14207064	C	A	14207064	3	1	88	1	0	0	0	0	1	0	0	0	17525	797	28	3	1172	3	XPC	3	14207064	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16840	14207064	183815366	3668	11380											
XPC	7508	broad.mit.edu	37	chr3	14209881	14209881	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcacaggctcactaagttCtatcaacaagcatttttaaa	5	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14209881C>T	ENST00000285021.7	-	4	627		c.e4-1		XPC_ENST00000449060.2_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C						nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCACTAAGTTCTATCAACAAG	0.423			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	3:14209881	0	T	14209881	C	T	14209881	5	4	88	1	0	0	0	0	0	0	1	0	17525	927	32	2	1411	2	XPC	3	14209881	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2817	14209881	183812549	3669	11381											
SLC6A6	6533	broad.mit.edu	37	chr3	14489097	14489097	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccaacctgcaggtatcggCtatgcctccgttgtaattgt	10	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14489097C>A	ENST00000454876.2	+	5	701	c.372C>A	c.(370-372)ggC>ggA	p.G124G	SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Silent_p.G124G|SLC6A6_ENST00000360861.3_Silent_p.G124G			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	124					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CAGGTATCGGCTATGCCTCCG	0.542													False	0	False	3:14489097	0	A	14489097	C	A	14489097	2	1	88	1	0	0	0	0	0	0	0	1	14768	784	28	3		3	SLC6A6	3	14489097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279216	14489097	183533333	3670	11382											
SLC6A6	6533	broad.mit.edu	37	chr3	14489241	14489241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaacacacctcactgcatGgaggacaccatgcgcaagaa	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14489241G>A	ENST00000454876.2	+	5	845	c.516G>A	c.(514-516)atG>atA	p.M172I	SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000416216.2_Missense_Mutation_p.M172I|SLC6A6_ENST00000360861.3_Missense_Mutation_p.M172I			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	172					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTCACTGCATGGAGGACACCA	0.562													False	0	False	3:14489241	0	A	14489241	G	A	14489241	3	1	88	1	0	0	0	0	1	0	0	0	14768	1348	47	2	526	2	SLC6A6	3	14489241	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144	14489241	183533189	3671	11383											
SLC6A6	6533	broad.mit.edu	37	chr3	14518771	14518771	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttacccatccttcctaaGgaagggttatcgtcgggaaa	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518771G>T	ENST00000454876.2	+	11	1597	c.1268G>T	c.(1267-1269)aGg>aTg	p.R423M	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R423M			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	423					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCCTTCCTAAGGAAGGGTTAT	0.532													False	0	True	3:14518771	0	T	14518771	G	T	14518771	3	4	88	1	0	0	0	0	1	0	0	0	14768	1000	35	3	1306	3	SLC6A6	3	14518771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29530	14518771	183503659	3672	11384											
SLC6A6	6533	broad.mit.edu	37	chr3	14518786	14518786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaaggaagggttatcgtcGggaaatcttcatcgccttcg	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518786G>A	ENST00000454876.2	+	11	1612	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R428Q			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	428					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GGTTATCGTCGGGAAATCTTC	0.517													False	0	True	3:14518786	0	A	14518786	G	A	14518786	3	1	88	1	0	0	0	0	1	0	0	0	14768	1116	39	1	1321	1	SLC6A6	3	14518786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	14518786	183503644	3673	11385											
SLC6A6	6533	broad.mit.edu	37	chr3	14518805	14518805	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggaaatcttcatcgccttCgtgtgtagcatcagctacct	9	12	3	0	rs145506460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518805C>T	ENST00000454876.2	+	11	1631	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	SLC6A6_ENST00000360861.3_Silent_p.F434F			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	434					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCATCGCCTTCGTGTGTAGCA	0.522													False	0	True	3:14518805	0	T	14518805	C	T	14518805	2	4	88	1	0	0	0	0	0	0	0	1	14768	883	31	1		1	SLC6A6	3	14518805	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	14518805	183503625	3674	11386											
GRIP2	80852	broad.mit.edu	37	chr3	14547207	14547207	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtatagctcgtcctccggGgctcggtgggtggggggctg	21	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14547207G>A	ENST00000273083.3	-	0	2553							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGTCCTCCGGGGCTCGGTGGG	0.682													False	0	True	3:14547207	0	A	14547207	G	A	14547207	1	1	88	0	1	0	0	0	0	0	0	0	6835	1232	43	2		2	GRIP2	3	14547207	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28402	14547207	183475223	3675	11387											
GRIP2	80852	broad.mit.edu	37	chr3	14548392	14548392	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcacagccggcgagaagCgggctgctggcaggcctcct	17	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14548392C>T	ENST00000273083.3	-	0	2379							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGGCGAGAAGCGGGCTGCTGG	0.657													False	0	True	3:14548392	0	T	14548392	C	T	14548392	1	4	88	0	1	0	0	0	0	0	0	0	6835	768	27	1		1	GRIP2	3	14548392	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1185	14548392	183474038	3676	11388											
GRIP2	80852	broad.mit.edu	37	chr3	14566999	14566999	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgggctttccatccttgtCggtgccacctgagatagtca	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14566999C>T	ENST00000273083.3	-	0	267							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCATCCTTGTCGGTGCCACCT	0.617													False	0	False	3:14566999	0	T	14566999	C	T	14566999	1	4	88	0	1	0	0	0	0	0	0	0	6835	884	31	1		1	GRIP2	3	14566999	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18607	14566999	183455431	3677	11389											
C3orf20	84077	broad.mit.edu	37	chr3	14798938	14798938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgccctcagactgcccGctggtgctgcggaagctcat	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14798938G>A	ENST00000253697.3	+	13	2453	c.2001G>A	c.(1999-2001)ccG>ccA	p.P667P	C3orf20_ENST00000412910.1_Silent_p.P545P|C3orf20_ENST00000435614.1_Silent_p.P545P	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	667						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGACTGCCCGCTGGTGCTGC	0.672													False	0	True	3:14798938	0	A	14798938	G	A	14798938	2	1	88	1	0	0	0	0	0	0	0	1	2229	1074	38	1		1	C3orf20	3	14798938	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	231939	14798938	183223492	3678	11390											
FGD5	152273	broad.mit.edu	37	chr3	14862336	14862336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacaatctctctctgtcGtgtgtaattggctcctctgg	11	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14862336G>A	ENST00000285046.5	+	1	1868	c.1758G>A	c.(1756-1758)tcG>tcA	p.S586S	FGD5_ENST00000543601.1_Silent_p.S345S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	586					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTCTCTGTCGTGTGTAATTG	0.557													False	0	True	3:14862336	0	A	14862336	G	A	14862336	2	1	88	1	0	0	0	0	0	0	0	1	5876	1132	40	1		1	FGD5	3	14862336	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63398	14862336	183160094	3679	11391											
NR2C2	7182	broad.mit.edu	37	chr3	15070094	15070094	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtattttttgtttaataggCtgaaacaagccagggagctc	10	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15070094C>A	ENST00000425241.1	+	8	1162	c.800C>A	c.(799-801)gCt>gAt	p.A267D	NR2C2_ENST00000406272.2_Splice_Site_p.A267D|NR2C2_ENST00000393102.3_Splice_Site_p.A267D|NR2C2_ENST00000323373.6_Splice_Site_p.A286D|NR2C2_ENST00000478572.1_3'UTR			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	267					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTTAATAGGCTGAAACAAGC	0.423													False	0	False	3:15070094	0	A	15070094	C	A	15070094	5	1	88	1	0	0	0	0	0	0	1	0	10691	811	28	3	887	3	NR2C2	3	15070094	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207758	15070094	182952336	3680	11392											
ZFYVE20	64145	broad.mit.edu	37	chr3	15118571	15118571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacccaggatggctttacctGcacaaaaagtgtagctgagt	10	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15118571G>T	ENST00000253699.3	-	12	1712	c.1099C>A	c.(1099-1101)Cag>Aag	p.Q367K	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.Q367K	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	367	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGCTTTACCTGCACAAAAAGT	0.478													False	0	False	3:15118571	0	T	15118571	G	T	15118571	3	4	88	1	0	0	0	0	1	0	0	0	17749	1328	46	3	1267	3	ZFYVE20	3	15118571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48477	15118571	182903859	3681	11393											
ZFYVE20	64145	broad.mit.edu	37	chr3	15127405	15127405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagtttattgacttccacaAcatagtggtcaattctagca	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15127405A>G	ENST00000253699.3	-	6	966	c.353T>C	c.(352-354)gTt>gCt	p.V118A	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V118A|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.V118A|ZFYVE20_ENST00000449964.2_5'UTR	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	118	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GACTTCCACAACATAGTGGTC	0.358													False	0	False	3:15127405	0	G	15127405	A	G	15127405	3	3	88	1	0	0	0	0	1	0	0	0	17749	43	2	4	2037	4	ZFYVE20	3	15127405	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8834	15127405	182895025	3682	11394											
METTL6	131965	broad.mit.edu	37	chr3	15466479	15466479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccttaacatattcaatggCtcttggagaaaaatcacagg	7	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15466479C>A	ENST00000443029.1	-	3	583	c.343G>T	c.(343-345)Gcc>Tcc	p.A115S	METTL6_ENST00000383789.5_Missense_Mutation_p.A115S|METTL6_ENST00000383790.3_Missense_Mutation_p.A115S|METTL6_ENST00000450816.2_Intron			Q8TCB7	METL6_HUMAN	methyltransferase like 6	115							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TATTCAATGGCTCTTGGAGAA	0.398													False	0	False	3:15466479	0	A	15466479	C	A	15466479	3	1	88	1	0	0	0	0	1	0	0	0	9571	797	28	3	527	3	METTL6	3	15466479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339074	15466479	182555951	3683	11395											
BTD	686	broad.mit.edu	37	chr3	15677047	15677047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtggctgaccatcacgAggctgaatattatgtggctg	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15677047A>G	ENST00000383778.4	+	2	459	c.101A>G	c.(100-102)gAg>gGg	p.E34G	BTD_ENST00000437172.1_Missense_Mutation_p.E56G|BTD_ENST00000482824.1_3'UTR|BTD_ENST00000303498.5_Missense_Mutation_p.E54G|BTD_ENST00000449107.1_Missense_Mutation_p.E56G	NM_001281725.1	NP_001268654.1	P43251	BTD_HUMAN	biotinidase	54					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GACCATCACGAGGCTGAATAT	0.567													False	0	False	3:15677047	0	G	15677047	A	G	15677047	3	3	88	1	0	0	0	0	1	0	0	0	1557	304	11	4	167	4	BTD	3	15677047	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	210568	15677047	182345383	3684	11396											
BTD	686	broad.mit.edu	37	chr3	15686733	15686733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcacttactacatccaagTgtgtgccctggtcaggtgtg	12	10	1	0	rs149690919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15686733T>C	ENST00000383778.4	+	4	1668	c.1310T>C	c.(1309-1311)gTg>gCg	p.V437A	BTD_ENST00000437172.1_Missense_Mutation_p.V459A|BTD_ENST00000303498.5_Missense_Mutation_p.V457A|BTD_ENST00000449107.1_Missense_Mutation_p.V459A	NM_001281725.1	NP_001268654.1	P43251	BTD_HUMAN	biotinidase	457					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TACATCCAAGTGTGTGCCCTG	0.517													False	0	True	3:15686733	0	C	15686733	T	C	15686733	3	2	88	1	0	0	0	0	1	0	0	0	1557	1696	59	4	1384	4	BTD	3	15686733	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9686	15686733	182335697	3685	11397											
ANKRD28	23243	broad.mit.edu	37	chr3	15756164	15756164	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggggttttcccatctttactCtggggggggaagaaaaaaat	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15756164C>T	ENST00000399451.2	-	9	1274		c.e9-1		ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CATCTTTACTCTGGGGGGGGA	0.363													False	0	False	3:15756164	0	T	15756164	C	T	15756164	5	4	88	1	0	0	0	0	0	0	1	0	656	927	32	2	2335	2	ANKRD28	3	15756164	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69431	15756164	182266266	3686	11398											
OXNAD1	92106	broad.mit.edu	37	chr3	16343174	16343174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgagagtgggtggagaGttcttctttgaccctcagcc	14	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16343174G>A	ENST00000285083.5	+	7	939	c.474G>A	c.(472-474)gaG>gaA	p.E158E	OXNAD1_ENST00000544043.1_Silent_p.E176E|OXNAD1_ENST00000605932.1_Silent_p.E158E|OXNAD1_ENST00000435829.2_Silent_p.E176E|OXNAD1_ENST00000606098.1_Silent_p.E158E	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	158	FAD-binding FR-type.						oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TGGGTGGAGAGTTCTTCTTTG	0.483													False	0	False	3:16343174	0	A	16343174	G	A	16343174	2	1	88	1	0	0	0	0	0	0	0	1	11401	1020	36	2		2	OXNAD1	3	16343174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	587010	16343174	181679256	3687	11399											
RFTN1	23180	broad.mit.edu	37	chr3	16419338	16419338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctctccggagggtgagCtgggctgcttggcgaggggc	18	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16419338C>T	ENST00000334133.4	-	5	985	c.713G>A	c.(712-714)aGc>aAc	p.S238N	RFTN1_ENST00000432519.1_Missense_Mutation_p.S202N	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	238						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGAGGGTGAGCTGGGCTGCTT	0.642													False	0	False	3:16419338	0	T	16419338	C	T	16419338	3	4	88	1	0	0	0	0	1	0	0	0	13337	797	28	2	1047	2	RFTN1	3	16419338	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76164	16419338	181603092	3688	11400											
RFTN1	23180	broad.mit.edu	37	chr3	16450939	16450939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggtctaaggaggaacaGcaatctaattccaagatgta	12	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16450939G>A	ENST00000334133.4	-	4	656	c.384C>T	c.(382-384)tgC>tgT	p.C128C	RFTN1_ENST00000432519.1_Silent_p.C92C	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	128						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AGGAGGAACAGCAATCTAATT	0.423													False	0	False	3:16450939	0	A	16450939	G	A	16450939	2	1	88	1	0	0	0	0	0	0	0	1	13337	963	34	2		2	RFTN1	3	16450939	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31601	16450939	181571491	3689	11401											
RFTN1	23180	broad.mit.edu	37	chr3	16450991	16450991	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagatcagttttctgagatCtgaagagaaagaaaagcaca	10	5	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16450991C>A	ENST00000334133.4	-	4	605		c.e4-1		RFTN1_ENST00000432519.1_Splice_Site	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1							plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTTCTGAGATCTGAAGAGAAA	0.438													False	0	False	3:16450991	0	A	16450991	C	A	16450991	5	1	88	1	0	0	0	0	0	0	1	0	13337	927	32	3	1432	3	RFTN1	3	16450991	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52	16450991	181571439	3690	11402											
PLCL2	23228	broad.mit.edu	37	chr3	17052328	17052328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctctcagatagttttccGcagtgtcattgatattatta	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17052328G>A	ENST00000418129.2	+	2	1577	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	PLCL2_ENST00000432376.1_Missense_Mutation_p.R371H|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.R371H	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	497					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATAGTTTTCCGCAGTGTCATT	0.398													False	0	False	3:17052328	0	A	17052328	G	A	17052328	3	1	88	1	0	0	0	0	1	0	0	0	12109	1087	38	1	1490	1	PLCL2	3	17052328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	601337	17052328	180970102	3691	11403											
TBC1D5	9779	broad.mit.edu	37	chr3	17208310	17208310	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccttggcctcggccctgGccctggccgctggagcagta	15	15	0	0	rs143757025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17208310G>T	ENST00000253692.7	-	21	3707	c.2043C>A	c.(2041-2043)ggC>ggA	p.G681G	TBC1D5_ENST00000446818.2_Silent_p.G703G|TBC1D5_ENST00000429383.4_Silent_p.G681G|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	681						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTCGGCCCTGGCCCTGGCCGC	0.517													False	0	True	3:17208310	0	T	17208310	G	T	17208310	2	4	88	1	0	0	0	0	0	0	0	1	15705	1190	42	3		3	TBC1D5	3	17208310	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155982	17208310	180814120	3692	11404											
TBC1D5	9779	broad.mit.edu	37	chr3	17418045	17418045	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcagactcactggcatgtaGaaaagcttggtggtcacagt	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17418045G>T	ENST00000253692.7	-	10	2337	c.673C>A	c.(673-675)Cta>Ata	p.L225I	TBC1D5_ENST00000446818.2_Missense_Mutation_p.L225I|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L225I|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.L177I	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	225	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTGGCATGTAGAAAAGCTTGG	0.413													False	0	True	3:17418045	0	T	17418045	G	T	17418045	3	4	88	1	0	0	0	0	1	0	0	0	15705	933	33	3	1836	3	TBC1D5	3	17418045	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209735	17418045	180604385	3693	11405											
SATB1	6304	broad.mit.edu	37	chr3	18419793	18419793	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctggtttcccattcctttCagtggcaatagtagctgttt	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18419793C>A	ENST00000338745.6	-	9	3178	c.1444G>T	c.(1444-1446)Gaa>Taa	p.E482*	SATB1_ENST00000454909.2_Nonsense_Mutation_p.E482*|SATB1_ENST00000417717.2_Nonsense_Mutation_p.E482*|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	482					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCATTCCTTTCAGTGGCAATA	0.393													False	0	True	3:18419793	0	A	18419793	C	A	18419793	4	1	88	1	0	0	0	0	0	1	0	0	13933	835	29	3	859	3	SATB1	3	18419793	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1001748	18419793	179602637	3694	11406											
SATB1	6304	broad.mit.edu	37	chr3	18456684	18456684	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcattcctcactgtggtGtgcgaccattgttcgggagg	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18456684G>A	ENST00000338745.6	-	5	2292	c.558C>T	c.(556-558)caC>caT	p.H186H	SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000454909.2_Silent_p.H186H|SATB1_ENST00000417717.2_Silent_p.H186H|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	186	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCACTGTGGTGTGCGACCATT	0.448													False	0	False	3:18456684	0	A	18456684	G	A	18456684	2	1	88	1	0	0	0	0	0	0	0	1	13933	1368	48	2		2	SATB1	3	18456684	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36891	18456684	179565746	3695	11407											
SATB1	6304	broad.mit.edu	37	chr3	18457596	18457596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacgtaagacagtggaaCtggattccactttccaacct	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18457596C>A	ENST00000338745.6	-	4	2152	c.418G>T	c.(418-420)Gtt>Ttt	p.V140F	SATB1_ENST00000475083.1_5'UTR|SATB1_ENST00000454909.2_Missense_Mutation_p.V140F|SATB1_ENST00000417717.2_Missense_Mutation_p.V140F|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	140	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GACAGTGGAACTGGATTCCAC	0.393													False	0	False	3:18457596	0	A	18457596	C	A	18457596	3	1	88	1	0	0	0	0	1	0	0	0	13933	565	20	3	1905	3	SATB1	3	18457596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	912	18457596	179564834	3696	11408											
SATB1	6304	broad.mit.edu	37	chr3	18462353	18462353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctagcgggctcccgTtctgctccaggcgggcaatc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18462353T>C	ENST00000338745.6	-	2	1841	c.107A>G	c.(106-108)aAc>aGc	p.N36S	SATB1_ENST00000454909.2_Missense_Mutation_p.N36S|SATB1_ENST00000417717.2_Missense_Mutation_p.N36S|SATB1_ENST00000493952.2_Missense_Mutation_p.N36S|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	36					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CGGGCTCCCGTTCTGCTCCAG	0.512													False	0	False	3:18462353	0	C	18462353	T	C	18462353	3	2	88	1	0	0	0	0	1	0	0	0	13933	1725	60	4	2224	4	SATB1	3	18462353	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4757	18462353	179560077	3697	11409											
KCNH8	131096	broad.mit.edu	37	chr3	19389273	19389273	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtttctgatgcaaaaaaGtccaaattcatacttctgca	5	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19389273G>A	ENST00000328405.2	+	5	893	c.627G>A	c.(625-627)aaG>aaA	p.K209K	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	209						integral to membrane	two-component sensor activity	p.K209K(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATGCAAAAAAGTCCAAATTCA	0.373													False	0	True	3:19389273	0	A	19389273	G	A	19389273	2	1	88	1	0	0	0	0	0	0	0	1	8088	1020	36	2		2	KCNH8	3	19389273	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	926920	19389273	178633157	3698	11410											
EFHB	151651	broad.mit.edu	37	chr3	19924048	19924048	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttatatgctatacctcttcTtttgatctggtcttgaagaa	6	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19924048T>G	ENST00000295824.9	-	12	2483	c.2322A>C	c.(2320-2322)aaA>aaC	p.K774N	EFHB_ENST00000344838.4_Missense_Mutation_p.K644N	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	774					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATACCTCTTCTTTTGATCTGG	0.299													False	0	True	3:19924048	0	G	19924048	T	G	19924048	3	3	88	1	0	0	0	0	1	0	0	0	4975	1606	56	4	187	4	EFHB	3	19924048	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	534775	19924048	178098382	3699	11411											
EFHB	151651	broad.mit.edu	37	chr3	19925921	19925921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaatggctcctacaattGcattgatctcagaagaagtt	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19925921G>A	ENST00000295824.9	-	11	2281	c.2120C>T	c.(2119-2121)gCa>gTa	p.A707V	EFHB_ENST00000344838.4_Missense_Mutation_p.A577V	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	707					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCCTACAATTGCATTGATCTC	0.403													False	0	False	3:19925921	0	A	19925921	G	A	19925921	3	1	88	1	0	0	0	0	1	0	0	0	4975	1319	46	2	393	2	EFHB	3	19925921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1873	19925921	178096509	3700	11412											
KAT2B	8850	broad.mit.edu	37	chr3	20167396	20167396	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcctgtctcttgcatctcaGaccaattttctgtcagcaca	5	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:20167396G>T	ENST00000263754.4	+	10	1868		c.e10-1			NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B						cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TTGCATCTCAGACCAATTTTC	0.468													False	0	False	3:20167396	0	T	20167396	G	T	20167396	5	4	88	1	0	0	0	0	0	0	1	0	8032	956	33	3	1451	3	KAT2B	3	20167396	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241475	20167396	177855034	3701	11413											
KAT2B	8850	broad.mit.edu	37	chr3	20169002	20169002	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatctcaaggattcacagaGattgtcttctgtgctgtaac	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:20169002G>A	ENST00000263754.4	+	11	2165	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	570	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GATTCACAGAGATTGTCTTCT	0.428													False	0	False	3:20169002	0	A	20169002	G	A	20169002	2	1	88	1	0	0	0	0	0	0	0	1	8032	933	33	2		2	KAT2B	3	20169002	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1606	20169002	177853428	3702	11414											
ZNF385D	79750	broad.mit.edu	37	chr3	21462771	21462771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggagctggccgcaggaGtgccggaggaagcgcggaag	19	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21462771G>A	ENST00000281523.2	-	8	1641	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	375						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCCGCAGGAGTGCCGGAGGA	0.547													False	0	False	3:21462771	0	A	21462771	G	A	21462771	3	1	88	1	0	0	0	0	1	0	0	0	17961	1029	36	2	68	2	ZNF385D	3	21462771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1293769	21462771	176559659	3703	11415											
ZNF385D	79750	broad.mit.edu	37	chr3	21462878	21462878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgctgcagctgctagaGgatttggtagaattcgtgga	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21462878G>A	ENST00000281523.2	-	8	1534	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	339						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						agctgctAGAGGATTTGGTAG	0.458													False	0	False	3:21462878	0	A	21462878	G	A	21462878	3	1	88	1	0	0	0	0	1	0	0	0	17961	1000	35	2	175	2	ZNF385D	3	21462878	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107	21462878	176559552	3704	11416											
ZNF385D	79750	broad.mit.edu	37	chr3	21467002	21467002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtttaagttgcgtttcCgagttgacgtgcacatcaca	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21467002C>T	ENST00000281523.2	-	6	1352	c.834G>A	c.(832-834)tcG>tcA	p.S278S		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	278						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GTTGCGTTTCCGAGTTGACGT	0.418													False	0	False	3:21467002	0	T	21467002	C	T	21467002	2	4	88	1	0	0	0	0	0	0	0	1	17961	639	23	1		1	ZNF385D	3	21467002	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4124	21467002	176555428	3705	11417											
ZNF385D	79750	broad.mit.edu	37	chr3	21478500	21478500	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgaggcagagttgacaGcaaccttgcatagcgaacag	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21478500G>T	ENST00000281523.2	-	5	1153	c.635C>A	c.(634-636)gCt>gAt	p.A212D		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	212						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGAGTTGACAGCAACCTTGCA	0.473													False	0	False	3:21478500	0	T	21478500	G	T	21478500	3	4	88	1	0	0	0	0	1	0	0	0	17961	971	34	3	568	3	ZNF385D	3	21478500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11498	21478500	176543930	3706	11418											
UBE2E1	7324	broad.mit.edu	37	chr3	23932089	23932089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagtggaccaagagatacGctacataaattggggtttca	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:23932089G>A	ENST00000306627.3	+	6	793	c.574G>A	c.(574-576)Gct>Act	p.A192T	UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000424381.1_Missense_Mutation_p.A159T|UBE2E1_ENST00000346855.3_Missense_Mutation_p.A175T	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	192					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|ISG15-protein conjugation|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|large_intestine(4)	7						CAAGAGATACGCTACATAAAT	0.453													False	0	False	3:23932089	0	A	23932089	G	A	23932089	3	1	88	1	0	0	0	0	1	0	0	0	16936	1087	38	1	592	1	UBE2E1	3	23932089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2453589	23932089	174090341	3707	11419											
NR1D2	9975	broad.mit.edu	37	chr3	24003495	24003495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggtcgtattcctaagcGtgaaaaacagaggatgctaa	11	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:24003495G>A	ENST00000312521.4	+	5	864	c.545G>A	c.(544-546)cGt>cAt	p.R182H	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	182					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ATTCCTAAGCGTGAAAAACAG	0.338													False	0	False	3:24003495	0	A	24003495	G	A	24003495	3	1	88	1	0	0	0	0	1	0	0	0	10684	1145	40	1	563	1	NR1D2	3	24003495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71406	24003495	174018935	3708	11420											
THRB	7068	broad.mit.edu	37	chr3	24231596	24231596	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctcctccgtttggaaggtCtgggcacttgagacactctg	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:24231596C>A	ENST00000396671.2	-	5	600	c.252G>T	c.(250-252)caG>caT	p.Q84H	THRB_ENST00000416420.1_Missense_Mutation_p.Q84H|THRB_ENST00000356447.4_Missense_Mutation_p.Q84H	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	84	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TTTGGAAGGTCTGGGCACTTG	0.423													False	0	False	3:24231596	0	A	24231596	C	A	24231596	3	1	88	1	0	0	0	0	1	0	0	0	15957	912	32	3	1161	3	THRB	3	24231596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228101	24231596	173790834	3709	11421											
RARB	5915	broad.mit.edu	37	chr3	25502706	25502706	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgaaacacagagcaccagCtctgaggaactcgtcccaag	9	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25502706C>A	ENST00000330688.4	+	2	601	c.180C>A	c.(178-180)agC>agA	p.S60R	RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000404969.1_Missense_Mutation_p.S67R|RARB_ENST00000462272.1_3'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	67	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAGCACCAGCTCTGAGGAAC	0.448													False	0	False	3:25502706	0	A	25502706	C	A	25502706	3	1	88	1	0	0	0	0	1	0	0	0	13132	796	28	3	186	3	RARB	3	25502706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1271110	25502706	172519724	3710	11422											
TOP2B	7155	broad.mit.edu	37	chr3	25660243	25660243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacaagccactccttaCgtaaaccgtaataacttaat	3	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25660243C>T	ENST00000435706.2	-	24	3347	c.3146G>A	c.(3145-3147)cGt>cAt	p.R1049H	TOP2B_ENST00000264331.4_Missense_Mutation_p.R1054H|TOP2B_ENST00000542520.1_5'UTR			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1054					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CCACTCCTTACGTAAACCGTA	0.353													False	0	False	3:25660243	0	T	25660243	C	T	25660243	3	4	88	1	0	0	0	0	1	0	0	0	16449	536	19	1	1771	1	TOP2B	3	25660243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157537	25660243	172362187	3711	11423											
TOP2B	7155	broad.mit.edu	37	chr3	25668286	25668286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtaagccatgtagcctacGctgtctccggtcttccataa	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25668286G>A	ENST00000435706.2	-	17	2272	c.2071C>T	c.(2071-2073)Cgt>Tgt	p.R691C	TOP2B_ENST00000264331.4_Missense_Mutation_p.R696C			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	696					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGTAGCCTACGCTGTCTCCGG	0.388													False	0	False	3:25668286	0	A	25668286	G	A	25668286	3	1	88	1	0	0	0	0	1	0	0	0	16449	1087	38	1	2874	1	TOP2B	3	25668286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8043	25668286	172354144	3712	11424											
TOP2B	7155	broad.mit.edu	37	chr3	25672321	25672321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcatcatccagtttgggaAtacctttgattttactgtat	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25672321A>G	ENST00000435706.2	-	11	1562	c.1361T>C	c.(1360-1362)aTt>aCt	p.I454T	TOP2B_ENST00000264331.4_Missense_Mutation_p.I459T			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	459					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CAGTTTGGGAATACCTTTGAT	0.299													False	0	False	3:25672321	0	G	25672321	A	G	25672321	3	3	88	1	0	0	0	0	1	0	0	0	16449	101	4	4	3608	4	TOP2B	3	25672321	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4035	25672321	172350109	3713	11425											
NGLY1	55768	broad.mit.edu	37	chr3	25761000	25761000	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacaattttcttcatggTcatttaagctttgtctaaac	4	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25761000T>C	ENST00000428257.1	-	12	1969	c.1862A>G	c.(1861-1863)gAc>gGc	p.D621G	NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.D597G|NGLY1_ENST00000396649.3_3'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.D639G	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	639	PAW.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TTCTTCATGGTCATTTAAGCT	0.373													False	0	False	3:25761000	0	C	25761000	T	C	25761000	3	2	88	1	0	0	0	0	1	0	0	0	10466	1667	58	4	52	4	NGLY1	3	25761000	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88679	25761000	172261430	3714	11426											
NEK10	152110	broad.mit.edu	37	chr3	27326096	27326096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctttatacttactaaCggttactttgtccttatccc	3	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:27326096C>T	ENST00000429845.2	-	23	2373	c.2011G>A	c.(2011-2013)Gtt>Att	p.V671I	NEK10_ENST00000357467.2_Missense_Mutation_p.V68I|NEK10_ENST00000341435.5_Missense_Mutation_p.V671I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	671	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TACTTACTAACGGTTACTTTG	0.378													False	0	False	3:27326096	0	T	27326096	C	T	27326096	3	4	88	1	0	0	0	0	1	0	0	0	10390	536	19	1	139	1	NEK10	3	27326096	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1565096	27326096	170696334	3715	11427											
NEK10	152110	broad.mit.edu	37	chr3	27326381	27326381	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtaaaatggtgatgtttttCcttcaaagaactgaaatgct	8	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:27326381C>A	ENST00000429845.2	-	22	2223	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*	NEK10_ENST00000357467.2_Nonsense_Mutation_p.E18*|NEK10_ENST00000341435.5_Nonsense_Mutation_p.E621*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	621	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGATGTTTTTCCTTCAAAGAA	0.328													False	0	True	3:27326381	0	A	27326381	C	A	27326381	4	1	88	1	0	0	0	0	0	1	0	0	10390	864	30	3	293	3	NEK10	3	27326381	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	285	27326381	170696049	3716	11428											
RBMS3	27303	broad.mit.edu	37	chr3	29781263	29781263	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaatctccccatttctaTggatgagcaggagcttgaga	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:29781263T>G	ENST00000434693.2	+	5	1149	c.449T>G	c.(448-450)aTg>aGg	p.M150R	RBMS3_ENST00000383766.2_Missense_Mutation_p.M150R|RBMS3_ENST00000383767.2_Missense_Mutation_p.M151R|RBMS3_ENST00000456853.1_Missense_Mutation_p.M151R|RBMS3_ENST00000396583.3_Missense_Mutation_p.M151R|RBMS3_ENST00000452462.1_Missense_Mutation_p.M151R|RBMS3_ENST00000445033.1_Missense_Mutation_p.M151R|RBMS3_ENST00000273139.9_Missense_Mutation_p.M151R	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	151	RRM 2.					cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CCCATTTCTATGGATGAGCAG	0.408													False	0	False	3:29781263	0	G	29781263	T	G	29781263	3	3	88	1	0	0	0	0	1	0	0	0	13229	1464	51	4	470	4	RBMS3	3	29781263	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2454882	29781263	168241167	3717	11429											
TGFBR2	7048	broad.mit.edu	37	chr3	30713754	30713754	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcccgggggattgctcAcctccacagtgatcacactc	9	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30713754A>C	ENST00000295754.5	+	4	1461	c.1079A>C	c.(1078-1080)cAc>cCc	p.H360P	TGFBR2_ENST00000359013.4_Missense_Mutation_p.H385P	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	360	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGGATTGCTCACCTCCACAGT	0.602													False	0	False	3:30713754	0	C	30713754	A	C	30713754	3	2	88	1	0	0	0	0	1	0	0	0	15904	159	6	4	1172	4	TGFBR2	3	30713754	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	932491	30713754	167308676	3718	11430											
TGFBR2	7048	broad.mit.edu	37	chr3	30729950	30729950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaaagcatgaaggacaacGtgttgagagatcgagggcga	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30729950G>A	ENST00000295754.5	+	6	1853	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	TGFBR2_ENST00000359013.4_Missense_Mutation_p.V516M	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	491	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GAAGGACAACGTGTTGAGAGA	0.488													False	0	False	3:30729950	0	A	30729950	G	A	30729950	3	1	88	1	0	0	0	0	1	0	0	0	15904	1145	40	1	1572	1	TGFBR2	3	30729950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16196	30729950	167292480	3719	11431											
TGFBR2	7048	broad.mit.edu	37	chr3	30732970	30732970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccacgacccagaggcccGtctcacagcccagtgtgtgg	13	15	1	1	rs104893815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30732970G>A	ENST00000295754.5	+	7	1965	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553H	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase.		R -> C (in LDS1B).|R -> H (in LDS1B).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R528H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCAGAGGCCCGTCTCACAGCC	0.597													False	0	True	3:30732970	0	A	30732970	G	A	30732970	3	1	88	1	0	0	0	0	1	0	0	0	15904	1145	40	1	1688	1	TGFBR2	3	30732970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3020	30732970	167289460	3720	11432											
OSBPL10	114884	broad.mit.edu	37	chr3	31918002	31918002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttctcttttgcatcagCagctaaaatagagaaaacag	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:31918002C>T	ENST00000396556.2	-	3	582	c.460G>A	c.(460-462)Gct>Act	p.A154T	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A154T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	154	PH.				lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTTGCATCAGCAGCTAAAATA	0.433													False	0	False	3:31918002	0	T	31918002	C	T	31918002	3	4	88	1	0	0	0	0	1	0	0	0	11343	710	25	2	1874	2	OSBPL10	3	31918002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1185032	31918002	166104428	3721	11433											
ZNF860	344787	broad.mit.edu	37	chr3	32030747	32030747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgttggagaactacaggaAcctgcattctgtggatatct	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32030747A>G	ENST00000360311.4	+	2	725	c.176A>G	c.(175-177)aAc>aGc	p.N59S		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AACTACAGGAACCTGCATTCT	0.453													False	0	False	3:32030747	0	G	32030747	A	G	32030747	3	3	88	1	0	0	0	0	1	0	0	0	18276	43	2	4	178	4	ZNF860	3	32030747	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112745	32030747	165991683	3722	11434											
ZNF860	344787	broad.mit.edu	37	chr3	32031382	32031382	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggtctttaatcagaagCgataccttgcatgccatcat	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32031382C>T	ENST00000360311.4	+	2	1360	c.811C>T	c.(811-813)Cga>Tga	p.R271*		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TAATCAGAAGCGATACCTTGC	0.368													False	0	False	3:32031382	0	T	32031382	C	T	32031382	4	4	88	1	0	0	0	0	0	1	0	0	18276	760	27	1	813	1	ZNF860	3	32031382	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	635	32031382	165991048	3723	11435											
ZNF860	344787	broad.mit.edu	37	chr3	32031577	32031577	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgaaagacataggagaattCatactggagagaaaccatac	9	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32031577C>T	ENST00000360311.4	+	2	1555	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TAGGAGAATTCATACTGGAGA	0.378													False	0	False	3:32031577	0	T	32031577	C	T	32031577	3	4	88	1	0	0	0	0	1	0	0	0	18276	826	29	2	1008	2	ZNF860	3	32031577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195	32031577	165990853	3724	11436											
CMTM7	0	broad.mit.edu	37	chr3	32483422	32483422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaagtggtcaccatttgcGacttgataatgatcctcgcc	9	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32483422G>A	ENST00000334983.5	+	2	486	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CMTM7_ENST00000349718.4_Missense_Mutation_p.D84N	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	84	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						CACCATTTGCGACTTGATAAT	0.547													False	0	False	3:32483422	0	A	32483422	G	A	32483422	3	1	88	1	0	0	0	0	1	0	0	0	3611	1058	37	1	256	1	CMTM7	3	32483422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	451845	32483422	165539008	3725	11437											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32571040	32571040	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagagatgtacctttcatgTttggatcaattttttttgac	7	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32571040T>C	ENST00000273130.4	-	11	1401	c.1298A>G	c.(1297-1299)aAc>aGc	p.N433S	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.N317S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	433					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						ACCTTTCATGTTTGGATCAAT	0.378													False	0	True	3:32571040	0	C	32571040	T	C	32571040	3	2	88	1	0	0	0	0	1	0	0	0	4874	1725	60	4	285	4	DYNC1LI1	3	32571040	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87618	32571040	165451390	3726	11438											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32572011	32572011	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taatttccttctcatgtacaAactgaaatgagcaatgcaca	5	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32572011A>G	ENST00000273130.4	-	9	1185	c.1082T>C	c.(1081-1083)tTt>tCt	p.F361S	DYNC1LI1_ENST00000432458.2_Splice_Site_p.F245S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	361					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						CTCATGTACAAACTGAAATGA	0.303													False	0	True	3:32572011	0	G	32572011	A	G	32572011	5	3	88	1	0	0	0	0	0	0	1	0	4874	28	1	4	509	4	DYNC1LI1	3	32572011	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	971	32572011	165450419	3727	11439											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32574558	32574558	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaattttcatgtaatattcCtattttcttatcattatccc	1	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32574558C>A	ENST00000273130.4	-	8	1103	c.1000G>T	c.(1000-1002)Gga>Tga	p.G334*	DYNC1LI1_ENST00000432458.2_Nonsense_Mutation_p.G218*	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	334					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TGTAATATTCCTATTTTCTTA	0.294													False	0	False	3:32574558	0	A	32574558	C	A	32574558	4	1	88	1	0	0	0	0	0	1	0	0	4874	690	24	3	595	3	DYNC1LI1	3	32574558	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2547	32574558	165447872	3728	11440											
CNOT10	25904	broad.mit.edu	37	chr3	32774973	32774973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaattgtacagtctattgTtggtcaaggctatcatcgta	10	6	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32774973T>C	ENST00000328834.5	+	11	1590	c.1274T>C	c.(1273-1275)gTt>gCt	p.V425A	CNOT10_ENST00000331889.6_Missense_Mutation_p.V425A|CNOT10_ENST00000454516.2_Missense_Mutation_p.V485A|CNOT10_ENST00000538368.1_Missense_Mutation_p.V197A|CNOT10-AS1_ENST00000475395.2_RNA	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	425					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAGTCTATTGTTGGTCAAGGC	0.294													False	0	False	3:32774973	0	C	32774973	T	C	32774973	3	2	88	1	0	0	0	0	1	0	0	0	3641	1725	60	4	1316	4	CNOT10	3	32774973	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	200415	32774973	165247457	3729	11441											
TRIM71	131405	broad.mit.edu	37	chr3	32860298	32860298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactacatcgagcgcggcccGccgggtcccggtgccgcagc	14	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32860298G>A	ENST00000383763.5	+	1	789	c.726G>A	c.(724-726)ccG>ccA	p.P242P		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding	p.P242P(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCGCGGCCCGCCGGGTCCCG	0.721													False	0	True	3:32860298	0	A	32860298	G	A	32860298	2	1	88	1	0	0	0	0	0	0	0	1	16627	1074	38	1		1	TRIM71	3	32860298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85325	32860298	165162132	3730	11442											
CCR4	1233	broad.mit.edu	37	chr3	32995192	32995192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcttcgtgttttccctccCtttttggggctactatgcag	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32995192C>T	ENST00000330953.5	+	2	446	c.278C>T	c.(277-279)cCt>cTt	p.P93L		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	93					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TTTTCCCTCCCTTTTTGGGGC	0.498													False	0	True	3:32995192	0	T	32995192	C	T	32995192	3	4	88	1	0	0	0	0	1	0	0	0	2966	681	24	2	280	2	CCR4	3	32995192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134894	32995192	165027238	3731	11443											
CCR4	1233	broad.mit.edu	37	chr3	32995580	32995580	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggatcatgctgttttgctaCtccatgatcatcaggacctt	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32995580C>A	ENST00000330953.5	+	2	834	c.666C>A	c.(664-666)taC>taA	p.Y222*		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	222					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGTTTTGCTACTCCATGATCA	0.483													False	0	False	3:32995580	0	A	32995580	C	A	32995580	4	1	88	1	0	0	0	0	0	1	0	0	2966	576	20	3	668	3	CCR4	3	32995580	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	388	32995580	165026850	3732	11444											
GLB1	2720	broad.mit.edu	37	chr3	33099761	33099761	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgccatattcattttcaaCctgtgagtgaaaaaagagca	8	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33099761C>A	ENST00000307363.5	-	6	697	c.553G>T	c.(553-555)Gtt>Ttt	p.V185F	GLB1_ENST00000399402.3_Splice_Site_p.V155F|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Splice_Site_p.V233F	NM_000404.2	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1	185					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TCATTTTCAACCTGTGAGTGA	0.453													False	0	False	3:33099761	0	A	33099761	C	A	33099761	5	1	88	1	0	0	0	0	0	0	1	0	6472	521	18	3	1524	3	GLB1	3	33099761	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104181	33099761	164922669	3733	11445											
TMPPE	643853	broad.mit.edu	37	chr3	33134406	33134406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcccgtagtaggctgtgcCtgggctgacatacacgaatg	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33134406C>A	ENST00000342462.4	-	2	1472	c.1282G>T	c.(1282-1284)Ggc>Tgc	p.G428C	GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.G291C|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000445488.2_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	428						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						TAGGCTGTGCCTGGGCTGACA	0.587													False	0	False	3:33134406	0	A	33134406	C	A	33134406	3	1	88	1	0	0	0	0	1	0	0	0	16320	681	24	3	83	3	TMPPE	3	33134406	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34645	33134406	164888024	3734	11446											
FBXL2	25827	broad.mit.edu	37	chr3	33415414	33415414	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacttgcagtcctgctcaGtaagtagcgtgcctttcctg	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33415414G>A	ENST00000484457.1	+	9	748		c.e9+1		FBXL2_ENST00000446237.3_Splice_Site|FBXL2_ENST00000538892.1_Splice_Site|FBXL2_ENST00000538181.1_Splice_Site|FBXL2_ENST00000507198.1_Splice_Site|FBXL2_ENST00000283627.6_Splice_Site|FBXL2_ENST00000542085.1_Splice_Site	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2						interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTCCTGCTCAGTAAGTAGCGT	0.498													False	0	True	3:33415414	0	A	33415414	G	A	33415414	5	1	88	1	0	0	0	0	0	0	1	0	5756	1043	36	2	692	2	FBXL2	3	33415414	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	281008	33415414	164607016	3735	11447											
FBXL2	25827	broad.mit.edu	37	chr3	33420310	33420310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacaacaagaagctgtttgGgttctctttctgtaaggtat	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33420310G>T	ENST00000446237.3	+	14	1182	c.158G>T	c.(157-159)gGg>gTg	p.G53V	FBXL2_ENST00000484457.1_Intron|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000542085.1_Intron			Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	317	F-box.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						AAGCTGTTTGGGTTCTCTTTC	0.393													False	0	True	3:33420310	0	T	33420310	G	T	33420310	3	4	88	1	0	0	0	0	1	0	0	0	5756	1247	43	3		3	FBXL2	3	33420310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4896	33420310	164602120	3736	11448											
UBP1	7342	broad.mit.edu	37	chr3	33444367	33444367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggctgttattcacataGgctgtgggggcatcgggcca	16	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33444367G>A	ENST00000283629.3	-	9	1486	c.957C>T	c.(955-957)gcC>gcT	p.A319A	UBP1_ENST00000447368.2_Silent_p.A283A|UBP1_ENST00000283628.5_Silent_p.A319A|UBP1_ENST00000486388.1_5'UTR	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	319					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TATTCACATAGGCTGTGGGGG	0.458													False	0	False	3:33444367	0	A	33444367	G	A	33444367	2	1	88	1	0	0	0	0	0	0	0	1	16979	987	35	2		2	UBP1	3	33444367	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24057	33444367	164578063	3737	11449											
UBP1	7342	broad.mit.edu	37	chr3	33453162	33453162	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtccttgtgtcaattattcCcacagacattggaatatcta	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33453162C>A	ENST00000283629.3	-	5	995	c.466G>T	c.(466-468)Gga>Tga	p.G156*	UBP1_ENST00000447368.2_Nonsense_Mutation_p.G156*|UBP1_ENST00000283628.5_Nonsense_Mutation_p.G156*	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	156					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TCAATTATTCCCACAGACATT	0.333													False	0	True	3:33453162	0	A	33453162	C	A	33453162	4	1	88	1	0	0	0	0	0	1	0	0	16979	632	22	3	1204	3	UBP1	3	33453162	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8795	33453162	164569268	3738	11450											
CLASP2	23122	broad.mit.edu	37	chr3	33623338	33623338	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaaaagagcgaacaggActtgtgtctctgctgctctc	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33623338A>G	ENST00000399362.4	-	23	2675	c.2322T>C	c.(2320-2322)agT>agC	p.S774S	CLASP2_ENST00000480013.1_Silent_p.S541S|CLASP2_ENST00000461133.3_Silent_p.S541S|CLASP2_ENST00000468888.2_Silent_p.S775S|CLASP2_ENST00000359576.5_Silent_p.S774S|CLASP2_ENST00000539981.1_Silent_p.S544S|CLASP2_ENST00000307312.7_Silent_p.S263S	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	775										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGCGAACAGGACTTGTGTCTC	0.517													False	0	False	3:33623338	0	G	33623338	A	G	33623338	2	3	88	1	0	0	0	0	0	0	0	1	3478	272	10	4		4	CLASP2	3	33623338	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	170176	33623338	164399092	3739	11451											
PDCD6IP	10015	broad.mit.edu	37	chr3	33885712	33885712	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactgtataagcctttaagaGcaggtaaaaatgtgtataaa	8	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33885712G>T	ENST00000307296.3	+	11	1845	c.1468G>T	c.(1468-1470)Gca>Tca	p.A490S	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A495S			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	490	Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GCCTTTAAGAGCAGGTAAAAA	0.338													False	0	False	3:33885712	0	T	33885712	G	T	33885712	3	4	88	1	0	0	0	0	1	0	0	0	11692	971	34	3	1525	3	PDCD6IP	3	33885712	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262374	33885712	164136718	3740	11452											
ARPP21	10777	broad.mit.edu	37	chr3	35748539	35748539	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcggtttatcttgaagCgagataactctagtattgat	10	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:35748539C>T	ENST00000187397.4	+	10	1216	c.760C>T	c.(760-762)Cga>Tga	p.R254*	ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R254*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R254*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R254*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	254						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TATCTTGAAGCGAGATAACTC	0.378													False	0	False	3:35748539	0	T	35748539	C	T	35748539	4	4	88	1	0	0	0	0	0	1	0	0	982	760	27	1	803	1	ARPP21	3	35748539	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1862827	35748539	162273891	3741	11453											
DCLK3	85443	broad.mit.edu	37	chr3	36757013	36757013	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcaccagatctttagcagCtgttggaatgagagaagggg	14	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36757013C>A	ENST00000416516.2	-	5	2244		c.e5-1			NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3							cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTTTAGCAGCTGTTGGAATG	0.473													False	0	False	3:36757013	0	A	36757013	C	A	36757013	5	1	88	1	0	0	0	0	0	0	1	0	4318	811	28	3	197	3	DCLK3	3	36757013	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1008474	36757013	161265417	3742	11454											
TRANK1	9881	broad.mit.edu	37	chr3	36872371	36872371	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagacccttaccgccagcCcaggccttccgcctgtagag	10	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36872371C>A	ENST00000301807.6	-	21	8818	c.6921G>T	c.(6919-6921)tgG>tgT	p.W2307C	TRANK1_ENST00000429976.2_Missense_Mutation_p.W2857C|TRANK1_ENST00000428977.2_Missense_Mutation_p.W2307C			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2857					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TACCGCCAGCCCAGGCCTTCC	0.582													False	0	True	3:36872371	0	A	36872371	C	A	36872371	3	1	88	1	0	0	0	0	1	0	0	0	16537	624	22	3	218	3	TRANK1	3	36872371	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115358	36872371	161150059	3743	11455											
TRANK1	9881	broad.mit.edu	37	chr3	36876271	36876271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttttccactgcaatagcaGcttcttcaaaaagctcctct	4	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36876271G>T	ENST00000301807.6	-	20	5760	c.3863C>A	c.(3862-3864)gCt>gAt	p.A1288D	TRANK1_ENST00000429976.2_Missense_Mutation_p.A1838D|TRANK1_ENST00000428977.2_Missense_Mutation_p.A1288D			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1838					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGCAATAGCAGCTTCTTCAAA	0.483													False	0	False	3:36876271	0	T	36876271	G	T	36876271	3	4	88	1	0	0	0	0	1	0	0	0	16537	971	34	3	3280	3	TRANK1	3	36876271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3900	36876271	161146159	3744	11456											
TRANK1	9881	broad.mit.edu	37	chr3	36897035	36897035	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgatacagactgaagaggCtgtagatctcactccggtct	11	10	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897035C>A	ENST00000301807.6	-	12	4293	c.2396G>T	c.(2395-2397)aGc>aTc	p.S799I	TRANK1_ENST00000429976.2_Missense_Mutation_p.S1349I|TRANK1_ENST00000428977.2_Missense_Mutation_p.S799I			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1349					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACTGAAGAGGCTGTAGATCTC	0.483													False	0	False	3:36897035	0	A	36897035	C	A	36897035	3	1	88	1	0	0	0	0	1	0	0	0	16537	797	28	3	4779	3	TRANK1	3	36897035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20764	36897035	161125395	3745	11457											
TRANK1	9881	broad.mit.edu	37	chr3	36897105	36897105	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taatttcttatatacttcttCagtgagtctcccatggggac	7	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897105C>T	ENST00000301807.6	-	12	4223	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	TRANK1_ENST00000429976.2_Missense_Mutation_p.E1326K|TRANK1_ENST00000428977.2_Missense_Mutation_p.E776K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1326					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TATACTTCTTCAGTGAGTCTC	0.458													False	0	False	3:36897105	0	T	36897105	C	T	36897105	3	4	88	1	0	0	0	0	1	0	0	0	16537	835	29	2	4849	2	TRANK1	3	36897105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70	36897105	161125325	3746	11458											
TRANK1	9881	broad.mit.edu	37	chr3	36897987	36897987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccagtgccacttcgccCaataaggatgatgggctcca	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897987C>T	ENST00000301807.6	-	12	3341	c.1444G>A	c.(1444-1446)Ggg>Agg	p.G482R	TRANK1_ENST00000429976.2_Missense_Mutation_p.G1032R|TRANK1_ENST00000428977.2_Missense_Mutation_p.G482R			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1032					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCACTTCGCCCAATAAGGATG	0.547													False	0	True	3:36897987	0	T	36897987	C	T	36897987	3	4	88	1	0	0	0	0	1	0	0	0	16537	594	21	2	5731	2	TRANK1	3	36897987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	882	36897987	161124443	3747	11459											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37033662	37033662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttaatcaaaactatccattCggatatggtatttatgatct	5	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:37033662C>T	ENST00000322716.5	-	1	1133	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	303						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ACTATCCATTCGGATATGGTA	0.398													False	0	False	3:37033662	0	T	37033662	C	T	37033662	3	4	88	1	0	0	0	0	1	0	0	0	5216	893	31	1	920	1	EPM2AIP1	3	37033662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135675	37033662	160988768	3748	11460											
MLH1	4292	broad.mit.edu	37	chr3	37053334	37053334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtacacaatgcaggcaTtagtttctcagttaaaaaag	7	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:37053334T>C	ENST00000231790.2	+	7	785	c.569T>C	c.(568-570)aTt>aCt	p.I190T	MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.I92T	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	190					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AATGCAGGCATTAGTTTCTCA	0.343		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	False	3:37053334	0	C	37053334	T	C	37053334	3	2	88	1	0	0	0	0	1	0	0	0	9684	1493	52	4	595	4	MLH1	3	37053334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19672	37053334	160969096	3749	11461											
VILL	50853	broad.mit.edu	37	chr3	38047333	38047333	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggaaggaggcggtggcCtggggccaggagtacctgaa	20	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38047333C>T	ENST00000283713.6	+	17	2267	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	VILL_ENST00000383759.2_Silent_p.A667A|VILL_ENST00000465644.1_Silent_p.A385A			O15195	VILL_HUMAN	villin-like	667					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGCGGTGGCCTGGGGCCAGG	0.642													False	0	False	3:38047333	0	T	38047333	C	T	38047333	2	4	88	1	0	0	0	0	0	0	0	1	17249	668	24	2		2	VILL	3	38047333	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	993999	38047333	159975097	3750	11462											
VILL	50853	broad.mit.edu	37	chr3	38048048	38048048	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagagaatgatctggtgCgaagccccaagtcggctggc	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38048048C>T	ENST00000283713.6	+	19	2580	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	VILL_ENST00000383759.2_Nonsense_Mutation_p.R772*|VILL_ENST00000465644.1_Nonsense_Mutation_p.R490*			O15195	VILL_HUMAN	villin-like	772					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGATCTGGTGCGAAGCCCCAA	0.657													False	0	False	3:38048048	0	T	38048048	C	T	38048048	4	4	88	1	0	0	0	0	0	1	0	0	17249	760	27	1	2384	1	VILL	3	38048048	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	715	38048048	159974382	3751	11463											
PLCD1	5333	broad.mit.edu	37	chr3	38050075	38050075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccccgttgtcctggaaGcggccctggtacacgtccat	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38050075G>A	ENST00000463876.1	-	12	2192	c.1839C>T	c.(1837-1839)cgC>cgT	p.R613R	PLCD1_ENST00000334661.4_Silent_p.R592R	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	592					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGTCCTGGAAGCGGCCCTGGT	0.667													False	0	False	3:38050075	0	A	38050075	G	A	38050075	2	1	88	1	0	0	0	0	0	0	0	1	12100	958	34	2		2	PLCD1	3	38050075	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2027	38050075	159972355	3752	11464											
DLEC1	9940	broad.mit.edu	37	chr3	38105386	38105386	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaattgggtttttcacagaTtatgaaattggtccagttta	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38105386T>A	ENST00000308059.6	+	6	1170	c.1149T>A	c.(1147-1149)gaT>gaA	p.D383E	DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000452631.2_Missense_Mutation_p.D383E|DLEC1_ENST00000346219.3_Missense_Mutation_p.D383E			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	383					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTTTCACAGATTATGAAATTG	0.378													False	0	False	3:38105386	0	A	38105386	T	A	38105386	3	1	88	1	0	0	0	0	1	0	0	0	4582	1490	52	5	1171	5	DLEC1	3	38105386	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55311	38105386	159917044	3753	11465											
DLEC1	9940	broad.mit.edu	37	chr3	38139062	38139062	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccctggccccacaagccaGgacctgctgtgtgaaatcga	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38139062G>T	ENST00000308059.6	+	17	2520	c.2499G>T	c.(2497-2499)caG>caT	p.Q833H	DLEC1_ENST00000452631.2_Missense_Mutation_p.Q833H|DLEC1_ENST00000346219.3_Missense_Mutation_p.Q833H			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	833					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCACAAGCCAGGACCTGCTGT	0.582													False	0	False	3:38139062	0	T	38139062	G	T	38139062	3	4	88	1	0	0	0	0	1	0	0	0	4582	991	35	3	2565	3	DLEC1	3	38139062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33676	38139062	159883368	3754	11466											
DLEC1	9940	broad.mit.edu	37	chr3	38141888	38141888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcatctggagaccgtcctgGagctggaggtggaaaatggt	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38141888G>A	ENST00000308059.6	+	19	2857	c.2836G>A	c.(2836-2838)Gag>Aag	p.E946K	DLEC1_ENST00000452631.2_Missense_Mutation_p.E946K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E946K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	946					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GACCGTCCTGGAGCTGGAGGT	0.522													False	0	True	3:38141888	0	A	38141888	G	A	38141888	3	1	88	1	0	0	0	0	1	0	0	0	4582	1175	41	2	2910	2	DLEC1	3	38141888	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2826	38141888	159880542	3755	11467											
DLEC1	9940	broad.mit.edu	37	chr3	38158136	38158136	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcggaattcagccatgAaactgactcatcagtgagca	8	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38158136A>C	ENST00000308059.6	+	28	4070	c.4049A>C	c.(4048-4050)gAa>gCa	p.E1350A	DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353A|DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350A			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1350					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTCAGCCATGAAACTGACTCA	0.627													False	0	True	3:38158136	0	C	38158136	A	C	38158136	3	2	88	1	0	0	0	0	1	0	0	0	4582	246	9	4	4159	4	DLEC1	3	38158136	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16248	38158136	159864294	3756	11468											
DLEC1	9940	broad.mit.edu	37	chr3	38163660	38163660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcacccccaacctccatcGccttgcaggttttcttcact	5	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38163660G>A	ENST00000308059.6	+	36	5140	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T	DLEC1_ENST00000452631.2_Missense_Mutation_p.A1710T|DLEC1_ENST00000346219.3_Intron			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1707					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AACCTCCATCGCCTTGCAGGT	0.632													False	0	False	3:38163660	0	A	38163660	G	A	38163660	3	1	88	1	0	0	0	0	1	0	0	0	4582	1087	38	1	5261	1	DLEC1	3	38163660	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5524	38163660	159858770	3757	11469											
ACAA1	30	broad.mit.edu	37	chr3	38175489	38175489	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgccccggccccaggctGcagcacatttcctgtggaca	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38175489G>A	ENST00000333167.8	-	3	449	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	ACAA1_ENST00000301810.7_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000450296.1_Nonsense_Mutation_p.Q93*|ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000444607.2_Nonsense_Mutation_p.Q93*	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	93					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GCCCCAGGCTGCAGCACATTT	0.512													False	0	False	3:38175489	0	A	38175489	G	A	38175489	4	1	88	1	0	0	0	0	0	1	0	0	104	1328	46	2	1037	2	ACAA1	3	38175489	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11829	38175489	159846941	3758	11470											
OXSR1	9943	broad.mit.edu	37	chr3	38292919	38292919	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagagggtgtctctcaggaActcatttctgctggcctggt	13	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38292919A>G	ENST00000311806.3	+	16	1773	c.1401A>G	c.(1399-1401)gaA>gaG	p.E467E		NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	467					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCTCTCAGGAACTCATTTCTG	0.478													False	0	False	3:38292919	0	G	38292919	A	G	38292919	2	3	88	1	0	0	0	0	0	0	0	1	11404	40	2	4		4	OXSR1	3	38292919	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	117430	38292919	159729511	3759	11471											
XYLB	9942	broad.mit.edu	37	chr3	38408309	38408309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttccagcgttttacagGgaaccaaattgcaaaaattt	6	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38408309G>A	ENST00000207870.3	+	7	608	c.518G>A	c.(517-519)gGg>gAg	p.G173E	XYLB_ENST00000542835.1_Missense_Mutation_p.G36E	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	173					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CGTTTTACAGGGAACCAAATT	0.393													False	0	True	3:38408309	0	A	38408309	G	A	38408309	3	1	88	1	0	0	0	0	1	0	0	0	17546	1232	43	2	544	2	XYLB	3	38408309	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115390	38408309	159614121	3760	11472											
ACVR2B	93	broad.mit.edu	37	chr3	38524754	38524754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtcaacggcactacctcGgactgtctcgtttccctggt	10	14	2	0	rs41285127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38524754G>A	ENST00000352511.4	+	11	1942	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB						activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCACTACCTCGGACTGTCTCG	0.592													False	0	False	3:38524754	0	A	38524754	G	A	38524754	2	1	88	1	0	0	0	0	0	0	0	1	224	1103	39	1		1	ACVR2B	3	38524754	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116445	38524754	159497676	3761	11473											
SCN5A	6331	broad.mit.edu	37	chr3	38595864	38595864	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcttgacaatacactcGcctgtgaagatggccacaaa	9	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38595864G>A	ENST00000455624.2	-	26	4739		c.e26+1		SCN5A_ENST00000414099.2_Silent_p.G1555G|SCN5A_ENST00000423572.2_Silent_p.G1572G|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000333535.4_Silent_p.G1573G|SCN5A_ENST00000449557.2_Silent_p.G1519G|SCN5A_ENST00000450102.2_Silent_p.G1519G|SCN5A_ENST00000451551.2_Silent_p.G1519G|SCN5A_ENST00000425664.1_Silent_p.G1555G|SCN5A_ENST00000443581.1_Silent_p.G1572G|SCN5A_ENST00000413689.1_Silent_p.G1573G			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit						blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAATACACTCGCCTGTGAAGA	0.498													False	0	False	3:38595864	0	A	38595864	G	A	38595864	5	1	88	1	0	0	0	0	0	0	1	0	14003	1101	38	1	1339	1	SCN5A	3	38595864	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71110	38595864	159426566	3762	11474											
SCN5A	6331	broad.mit.edu	37	chr3	38603958	38603958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacggagtgcacgcagcGtccgcagtgacttgatgggg	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38603958G>A	ENST00000413689.1	-	22	4104	c.3911C>T	c.(3910-3912)aCg>aTg	p.T1304M	SCN5A_ENST00000414099.2_Missense_Mutation_p.T1304M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000333535.4_Missense_Mutation_p.T1304M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1303M|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1250M|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1304M|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1303M	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1304			T -> M (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGCACGCAGCGTCCGCAGTGA	0.622													False	0	False	3:38603958	0	A	38603958	G	A	38603958	3	1	88	1	0	0	0	0	1	0	0	0	14003	1145	40	1	2167	1	SCN5A	3	38603958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8094	38603958	159418472	3763	11475											
SCN5A	6331	broad.mit.edu	37	chr3	38616790	38616790	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatccccaggagggtaccaGcgctccactgctgagtagga	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38616790G>T	ENST00000413689.1	-	20	3857	c.3664C>A	c.(3664-3666)Ctg>Atg	p.L1222M	SCN5A_ENST00000414099.2_Missense_Mutation_p.L1222M|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000333535.4_Missense_Mutation_p.L1222M|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000455624.2_Missense_Mutation_p.L1221M|SCN5A_ENST00000450102.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000451551.2_Missense_Mutation_p.L1168M|SCN5A_ENST00000425664.1_Missense_Mutation_p.L1222M|SCN5A_ENST00000443581.1_Missense_Mutation_p.L1221M	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1222					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAGGGTACCAGCGCTCCACTG	0.587													False	0	False	3:38616790	0	T	38616790	G	T	38616790	3	4	88	1	0	0	0	0	1	0	0	0	14003	962	34	3	2422	3	SCN5A	3	38616790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12832	38616790	159405640	3764	11476											
SCN5A	6331	broad.mit.edu	37	chr3	38622571	38622571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcgccttcctcaaaccGtgtttccttgcgggtgggag	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38622571G>A	ENST00000413689.1	-	17	3272	c.3079C>T	c.(3079-3081)Cgg>Tgg	p.R1027W	SCN5A_ENST00000414099.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1027W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1027W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1027W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1027W	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1027			R -> Q.		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCCTCAAACCGTGTTTCCTTG	0.667													False	0	False	3:38622571	0	A	38622571	G	A	38622571	3	1	88	1	0	0	0	0	1	0	0	0	14003	1144	40	1	3019	1	SCN5A	3	38622571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5781	38622571	159399859	3765	11477											
SCN5A	6331	broad.mit.edu	37	chr3	38622804	38622804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctgtcctcatcagggGctgtgaggttgtctgcactg	12	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38622804G>A	ENST00000413689.1	-	17	3039	c.2846C>T	c.(2845-2847)gCc>gTc	p.A949V	SCN5A_ENST00000414099.2_Missense_Mutation_p.A949V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A949V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A949V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A949V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A949V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A949V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A949V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A949V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A949V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	949					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCATCAGGGGCTGTGAGGTT	0.582													False	0	True	3:38622804	0	A	38622804	G	A	38622804	3	1	88	1	0	0	0	0	1	0	0	0	14003	1203	42	2	3252	2	SCN5A	3	38622804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233	38622804	159399626	3766	11478											
SCN5A	6331	broad.mit.edu	37	chr3	38639378	38639378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgatggacatccacaGcgggcagcactcccagatca	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38639378G>A	ENST00000413689.1	-	14	2297	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	SCN5A_ENST00000414099.2_Silent_p.L702L|SCN5A_ENST00000423572.2_Silent_p.L702L|SCN5A_ENST00000333535.4_Silent_p.L702L|SCN5A_ENST00000449557.2_Silent_p.L702L|SCN5A_ENST00000455624.2_Silent_p.L702L|SCN5A_ENST00000450102.2_Silent_p.L702L|SCN5A_ENST00000451551.2_Silent_p.L702L|SCN5A_ENST00000425664.1_Silent_p.L702L|SCN5A_ENST00000443581.1_Silent_p.L702L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	702					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GACATCCACAGCGGGCAGCAC	0.557													False	0	False	3:38639378	0	A	38639378	G	A	38639378	2	1	88	1	0	0	0	0	0	0	0	1	14003	962	34	2		2	SCN5A	3	38639378	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16574	38639378	159383052	3767	11479											
SCN5A	6331	broad.mit.edu	37	chr3	38645261	38645261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcttcctggggatgtgGcctctgggtcgcctgccccc	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38645261G>A	ENST00000413689.1	-	12	2025	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	SCN5A_ENST00000414099.2_Missense_Mutation_p.A611V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A611V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A611V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A611V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A611V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A611V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A611V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A611V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A611V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	611					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGGGGATGTGGCCTCTGGGTC	0.647													False	0	False	3:38645261	0	A	38645261	G	A	38645261	3	1	88	1	0	0	0	0	1	0	0	0	14003	1203	42	2	4286	2	SCN5A	3	38645261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5883	38645261	159377169	3768	11480											
SCN5A	6331	broad.mit.edu	37	chr3	38647544	38647544	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctcctcataggccattgcGaccacggccaggatcaggtt	11	13	2	0	rs45565936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38647544G>A	ENST00000413689.1	-	10	1429	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	SCN5A_ENST00000414099.2_Silent_p.V412V|SCN5A_ENST00000423572.2_Silent_p.V412V|SCN5A_ENST00000333535.4_Silent_p.V412V|SCN5A_ENST00000449557.2_Silent_p.V412V|SCN5A_ENST00000455624.2_Silent_p.V412V|SCN5A_ENST00000450102.2_Silent_p.V412V|SCN5A_ENST00000451551.2_Silent_p.V412V|SCN5A_ENST00000425664.1_Silent_p.V412V|SCN5A_ENST00000443581.1_Silent_p.V412V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	412					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGGCCATTGCGACCACGGCCA	0.542													False	0	False	3:38647544	0	A	38647544	G	A	38647544	2	1	88	1	0	0	0	0	0	0	0	1	14003	1045	37	1		1	SCN5A	3	38647544	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2283	38647544	159374886	3769	11481											
SCN10A	6336	broad.mit.edu	37	chr3	38739804	38739804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacatgtcgtcgatgccaGcctcccacctcacatgggga	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38739804G>A	ENST00000449082.2	-	27	4906	c.4907C>T	c.(4906-4908)gCt>gTt	p.A1636V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1636					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTCGATGCCAGCCTCCCACCT	0.562													False	0	False	3:38739804	0	A	38739804	G	A	38739804	3	1	88	1	0	0	0	0	1	0	0	0	13993	971	34	2	967	2	SCN10A	3	38739804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92260	38739804	159282626	3770	11482											
SCN10A	6336	broad.mit.edu	37	chr3	38739966	38739966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggatcagtctgaggatgCggccaattcgggccaggcgg	16	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38739966C>T	ENST00000449082.2	-	27	4744	c.4745G>A	c.(4744-4746)cGc>cAc	p.R1582H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1582					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTGAGGATGCGGCCAATTCG	0.522													False	0	False	3:38739966	0	T	38739966	C	T	38739966	3	4	88	1	0	0	0	0	1	0	0	0	13993	768	27	1	1129	1	SCN10A	3	38739966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162	38739966	159282464	3771	11483											
SCN10A	6336	broad.mit.edu	37	chr3	38752374	38752374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatacataatgtccatccaGcctttaaaggttgcctggag	9	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38752374G>A	ENST00000449082.2	-	23	4103	c.4104C>T	c.(4102-4104)ggC>ggT	p.G1368G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1368					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGTCCATCCAGCCTTTAAAGG	0.542													False	0	True	3:38752374	0	A	38752374	G	A	38752374	2	1	88	1	0	0	0	0	0	0	0	1	13993	958	34	2		2	SCN10A	3	38752374	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12408	38752374	159270056	3772	11484											
SCN10A	6336	broad.mit.edu	37	chr3	38753722	38753722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacattgacccagaagaagCtgccagtggagttttgaatc	10	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38753722C>T	ENST00000449082.2	-	22	4018	c.4019G>A	c.(4018-4020)aGc>aAc	p.S1340N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1340					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGAAGAAGCTGCCAGTGGA	0.428													False	0	False	3:38753722	0	T	38753722	C	T	38753722	3	4	88	1	0	0	0	0	1	0	0	0	13993	797	28	2	1875	2	SCN10A	3	38753722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1348	38753722	159268708	3773	11485											
SCN10A	6336	broad.mit.edu	37	chr3	38763851	38763851	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctgccagcccacatcCcatggactcttggtggtatc	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38763851C>T	ENST00000449082.2	-	19	3404	c.3405G>A	c.(3403-3405)tgG>tgA	p.W1135*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1135					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCCCACATCCCATGGACTCT	0.562													False	0	True	3:38763851	0	T	38763851	C	T	38763851	4	4	88	1	0	0	0	0	0	1	0	0	13993	624	22	2	2501	2	SCN10A	3	38763851	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10129	38763851	159258579	3774	11486											
SCN10A	6336	broad.mit.edu	37	chr3	38768102	38768102	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggataactcttacctgtcCtttggggatcacttcctgct	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38768102C>A	ENST00000449082.2	-	16	3081	c.3082G>T	c.(3082-3084)Gga>Tga	p.G1028*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1028					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTTACCTGTCCTTTGGGGATC	0.542													False	0	True	3:38768102	0	A	38768102	C	A	38768102	4	1	88	1	0	0	0	0	0	1	0	0	13993	690	24	3	2836	3	SCN10A	3	38768102	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4251	38768102	159254328	3775	11487											
SCN10A	6336	broad.mit.edu	37	chr3	38768406	38768406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagaagctgcaaagagcCtgtttggtacgatggccaaa	12	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38768406C>T	ENST00000449082.2	-	16	2777	c.2778G>A	c.(2776-2778)caG>caA	p.Q926Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	926					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGCAAAGAGCCTGTTTGGTAC	0.602													False	0	False	3:38768406	0	T	38768406	C	T	38768406	2	4	88	1	0	0	0	0	0	0	0	1	13993	680	24	2		2	SCN10A	3	38768406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304	38768406	159254024	3776	11488											
SCN10A	6336	broad.mit.edu	37	chr3	38770385	38770385	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatttggccagcttgaatAcgcgcagctgcagagaaaca	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38770385A>G	ENST00000449082.2	-	15	2287	c.2288T>C	c.(2287-2289)gTa>gCa	p.V763A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	763					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGCTTGAATACGCGCAGCTG	0.493													False	0	False	3:38770385	0	G	38770385	A	G	38770385	3	3	88	1	0	0	0	0	1	0	0	0	13993	391	14	4	3634	4	SCN10A	3	38770385	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1979	38770385	159252045	3777	11489											
SCN10A	6336	broad.mit.edu	37	chr3	38781010	38781010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagaaaaacattaccaagCggaagctccgcagcacagac	9	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38781010C>T	ENST00000449082.2	-	14	2275	c.2276G>A	c.(2275-2277)cGc>cAc	p.R759H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	759					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CATTACCAAGCGGAAGCTCCG	0.547													False	0	False	3:38781010	0	T	38781010	C	T	38781010	3	4	88	1	0	0	0	0	1	0	0	0	13993	768	27	1	3650	1	SCN10A	3	38781010	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10625	38781010	159241420	3778	11490											
SCN10A	6336	broad.mit.edu	37	chr3	38781150	38781150	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaatgattttgaagacCatttcagcagtaaaaaatat	7	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38781150C>T	ENST00000449082.2	-	14	2135	c.2136G>A	c.(2134-2136)atG>atA	p.M712I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	712					sensory perception	voltage-gated sodium channel complex		p.M712I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTTTGAAGACCATTTCAGCAG	0.433													False	0	False	3:38781150	0	T	38781150	C	T	38781150	3	4	88	1	0	0	0	0	1	0	0	0	13993	594	21	2	3790	2	SCN10A	3	38781150	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	38781150	159241280	3779	11491											
SCN10A	6336	broad.mit.edu	37	chr3	38793718	38793718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacaaactcaccgagacatCgacagctccaggggcaagct	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38793718C>T	ENST00000449082.2	-	11	1746	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	583					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCGAGACATCGACAGCTCCA	0.552													False	0	False	3:38793718	0	T	38793718	C	T	38793718	3	4	88	1	0	0	0	0	1	0	0	0	13993	884	31	1	4191	1	SCN10A	3	38793718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12568	38793718	159228712	3780	11492											
SCN10A	6336	broad.mit.edu	37	chr3	38798295	38798295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatcaagttgaccaggTagaaagatcccaggaagatt	10	8	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38798295T>C	ENST00000449082.2	-	9	1159	c.1160A>G	c.(1159-1161)tAc>tGc	p.Y387C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	387					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTTGACCAGGTAGAAAGATCC	0.453													False	0	False	3:38798295	0	C	38798295	T	C	38798295	3	2	88	1	0	0	0	0	1	0	0	0	13993	1638	57	4	4786	4	SCN10A	3	38798295	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4577	38798295	159224135	3781	11493											
SCN11A	11280	broad.mit.edu	37	chr3	38888777	38888777	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatgtacatgttgacaAcaatgagaaaggagatgata	10	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38888777A>G	ENST00000302328.3	-	26	4982	c.4784T>C	c.(4783-4785)gTt>gCt	p.V1595A	SCN11A_ENST00000456224.3_Missense_Mutation_p.V1557A|SCN11A_ENST00000450244.1_Missense_Mutation_p.V1595A	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1595					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CATGTTGACAACAATGAGAAA	0.393													False	0	False	3:38888777	0	G	38888777	A	G	38888777	3	3	88	1	0	0	0	0	1	0	0	0	13994	43	2	4	595	4	SCN11A	3	38888777	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	90482	38888777	159133653	3782	11494											
SCN11A	11280	broad.mit.edu	37	chr3	38962576	38962576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggtatttaccataagcttCcgggttactgatatttttac	8	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38962576C>T	ENST00000302328.3	-	6	1081	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E295K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E295K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E295K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	295					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCATAAGCTTCCGGGTTACTG	0.448													False	0	False	3:38962576	0	T	38962576	C	T	38962576	3	4	88	1	0	0	0	0	1	0	0	0	13994	864	30	2	4576	2	SCN11A	3	38962576	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73799	38962576	159059854	3783	11495											
WDR48	57599	broad.mit.edu	37	chr3	39111170	39111170	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccaagaacatgtgcaaaaCtaatgaagcttaaagggcac	8	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39111170C>A	ENST00000302313.5	+	7	635	c.607C>A	c.(607-609)Cta>Ata	p.L203I	WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_Missense_Mutation_p.L121I|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	203					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATGTGCAAAACTAATGAAGCT	0.353													False	0	True	3:39111170	0	A	39111170	C	A	39111170	3	1	88	1	0	0	0	0	1	0	0	0	17385	564	20	3	633	3	WDR48	3	39111170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148594	39111170	158911260	3784	11496											
WDR48	57599	broad.mit.edu	37	chr3	39116241	39116241	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggcagttctgatgggAcaattcgcctttggtccctt	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39116241A>G	ENST00000302313.5	+	8	725	c.697A>G	c.(697-699)Aca>Gca	p.T233A	WDR48_ENST00000544962.1_Missense_Mutation_p.T25A|WDR48_ENST00000396258.3_Missense_Mutation_p.T151A|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	233					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTCTGATGGGACAATTCGCCT	0.483													False	0	True	3:39116241	0	G	39116241	A	G	39116241	3	3	88	1	0	0	0	0	1	0	0	0	17385	275	10	4	727	4	WDR48	3	39116241	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5071	39116241	158906189	3785	11497											
WDR48	57599	broad.mit.edu	37	chr3	39126162	39126162	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actattactttggatgaaagTgattgttttgctgcctgggt	11	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39126162T>G	ENST00000302313.5	+	13	1336	c.1308T>G	c.(1306-1308)agT>agG	p.S436R	WDR48_ENST00000544962.1_Missense_Mutation_p.S161R|WDR48_ENST00000396258.3_Missense_Mutation_p.S354R|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	436					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGATGAAAGTGATTGTTTTG	0.358													False	0	False	3:39126162	0	G	39126162	T	G	39126162	3	3	88	1	0	0	0	0	1	0	0	0	17385	1693	59	4	1358	4	WDR48	3	39126162	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9921	39126162	158896268	3786	11498											
TTC21A	199223	broad.mit.edu	37	chr3	39170682	39170682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggcaatgtggacgtggcGctgaacatgctaaggaacat	14	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39170682G>A	ENST00000301819.6	+	15	2217	c.2040G>A	c.(2038-2040)gcG>gcA	p.A680A	TTC21A_ENST00000440121.1_Silent_p.A631A|TTC21A_ENST00000431162.2_Silent_p.A679A	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	679							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGACGTGGCGCTGAACATGC	0.547													False	0	False	3:39170682	0	A	39170682	G	A	39170682	2	1	88	1	0	0	0	0	0	0	0	1	16771	1074	38	1		1	TTC21A	3	39170682	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44520	39170682	158851748	3787	11499											
TTC21A	199223	broad.mit.edu	37	chr3	39178504	39178504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgtctgaatccagacaaCgaggttgtgggcggagaggc	15	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39178504C>T	ENST00000301819.6	+	24	3411	c.3234C>T	c.(3232-3234)aaC>aaT	p.N1078N	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Silent_p.N1029N|TTC21A_ENST00000431162.2_Silent_p.N1077N	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1077							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATCCAGACAACGAGGTTGTGG	0.567													False	0	False	3:39178504	0	T	39178504	C	T	39178504	2	4	88	1	0	0	0	0	0	0	0	1	16771	535	19	1		1	TTC21A	3	39178504	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7822	39178504	158843926	3788	11500											
CSRNP1	64651	broad.mit.edu	37	chr3	39186588	39186588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaactcagccaaagagaagCgacggcaagcactgtggcga	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39186588C>T	ENST00000273153.5	-	3	542	c.365G>A	c.(364-366)cGc>cAc	p.R122H	CSRNP1_ENST00000514182.1_Missense_Mutation_p.R122H	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	122					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CAAAGAGAAGCGACGGCAAGC	0.607													False	0	False	3:39186588	0	T	39186588	C	T	39186588	3	4	88	1	0	0	0	0	1	0	0	0	3988	768	27	1	1416	1	CSRNP1	3	39186588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8084	39186588	158835842	3789	11501											
XIRP1	165904	broad.mit.edu	37	chr3	39225970	39225970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaggtaaaacccgaggaGggcacaaatactctcttgat	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39225970G>T	ENST00000340369.3	-	2	5195	c.4967C>A	c.(4966-4968)cCt>cAt	p.P1656H	XIRP1_ENST00000421646.1_Missense_Mutation_p.P339H|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1656							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AACCCGAGGAGGGCACAAATA	0.527													False	0	True	3:39225970	0	T	39225970	G	T	39225970	3	4	88	1	0	0	0	0	1	0	0	0	17513	1000	35	3	568	3	XIRP1	3	39225970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39382	39225970	158796460	3790	11502											
XIRP1	165904	broad.mit.edu	37	chr3	39228903	39228903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctgcagtatctcacaggCcgtcttccacagggacggcc	12	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39228903C>T	ENST00000340369.3	-	2	2262	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.R678R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	678							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATCTCACAGGCCGTCTTCCAC	0.592													False	0	False	3:39228903	0	T	39228903	C	T	39228903	2	4	88	1	0	0	0	0	0	0	0	1	17513	726	26	2		2	XIRP1	3	39228903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2933	39228903	158793527	3791	11503											
XIRP1	165904	broad.mit.edu	37	chr3	39229562	39229562	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttggactcccatgggccaGaacctcaccctgtccaatgc	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39229562G>A	ENST00000340369.3	-	2	1603	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.L459L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	459							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCATGGGCCAGAACCTCACCC	0.562													False	0	False	3:39229562	0	A	39229562	G	A	39229562	2	1	88	1	0	0	0	0	0	0	0	1	17513	933	33	2		2	XIRP1	3	39229562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	659	39229562	158792868	3792	11504											
XIRP1	165904	broad.mit.edu	37	chr3	39229727	39229727	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtcctggggatccactcGctgtaggtgacccacttgga	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39229727G>A	ENST00000340369.3	-	2	1438	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Nonsense_Mutation_p.R404*	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	404							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGATCCACTCGCTGTAGGTGA	0.582													False	0	False	3:39229727	0	A	39229727	G	A	39229727	4	1	88	1	0	0	0	0	0	1	0	0	17513	1095	38	1	4325	1	XIRP1	3	39229727	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165	39229727	158792703	3793	11505											
XIRP1	165904	broad.mit.edu	37	chr3	39230603	39230603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgggctccttggcagctgGcctctcgtgttctccaatgg	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39230603G>A	ENST00000340369.3	-	2	562	c.334C>T	c.(334-336)Cca>Tca	p.P112S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P112S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	112							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTGGCAGCTGGCCTCTCGTGT	0.597													False	0	False	3:39230603	0	A	39230603	G	A	39230603	3	1	88	1	0	0	0	0	1	0	0	0	17513	1203	42	2	5201	2	XIRP1	3	39230603	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	876	39230603	158791827	3794	11506											
RPSA	3921	broad.mit.edu	37	chr3	39450202	39450202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgttatatcctccaGgaatactggccaggtttgtg	11	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39450202G>T	ENST00000301821.6	+	3	348	c.239G>T	c.(238-240)aGg>aTg	p.R80M	RPSA_ENST00000443003.1_Missense_Mutation_p.R80M|RPSA_ENST00000478027.1_3'UTR	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	80	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ATATCCTCCAGGAATACTGGC	0.388													False	0	False	3:39450202	0	T	39450202	G	T	39450202	3	4	88	1	0	0	0	0	1	0	0	0	13742	1000	35	3	245	3	RPSA	3	39450202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219599	39450202	158572228	3795	11507											
MYRIP	25924	broad.mit.edu	37	chr3	40223778	40223778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctccagtggaggctccatCgaggcagccaagggaccaag	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40223778C>T	ENST00000302541.6	+	9	1283	c.941C>T	c.(940-942)tCg>tTg	p.S314L	MYRIP_ENST00000425621.1_Missense_Mutation_p.S314L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.S127L|MYRIP_ENST00000444716.1_Missense_Mutation_p.S314L|MYRIP_ENST00000396217.3_Missense_Mutation_p.S225L	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	314	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GAGGCTCCATCGAGGCAGCCA	0.562													False	0	False	3:40223778	0	T	40223778	C	T	40223778	3	4	88	1	0	0	0	0	1	0	0	0	10167	893	31	1	971	1	MYRIP	3	40223778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	773576	40223778	157798652	3796	11508											
MYRIP	25924	broad.mit.edu	37	chr3	40231551	40231551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggccctgcccaggaaccCccagcctcagcccacacagg	10	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40231551C>T	ENST00000302541.6	+	10	1604	c.1262C>T	c.(1261-1263)cCc>cTc	p.P421L	MYRIP_ENST00000425621.1_Missense_Mutation_p.P421L|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.P234L|MYRIP_ENST00000444716.1_Missense_Mutation_p.P421L|MYRIP_ENST00000396217.3_Missense_Mutation_p.P332L	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	421	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCCAGGAACCCCCAGCCTCAG	0.632													False	0	True	3:40231551	0	T	40231551	C	T	40231551	3	4	88	1	0	0	0	0	1	0	0	0	10167	623	22	2	1296	2	MYRIP	3	40231551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7773	40231551	157790879	3797	11509											
MYRIP	25924	broad.mit.edu	37	chr3	40251388	40251388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacatcagcaatgaggctcGggatccccagactctcacag	10	13	2	3	rs146905729	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40251388G>A	ENST00000302541.6	+	11	2051	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	MYRIP_ENST00000425621.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.R383Q|MYRIP_ENST00000444716.1_Missense_Mutation_p.R570Q|MYRIP_ENST00000396217.3_Missense_Mutation_p.R481Q	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	570	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AATGAGGCTCGGGATCCCCAG	0.483													False	0	True	3:40251388	0	A	40251388	G	A	40251388	3	1	88	1	0	0	0	0	1	0	0	0	10167	1116	39	1	1747	1	MYRIP	3	40251388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19837	40251388	157771042	3798	11510											
MYRIP	25924	broad.mit.edu	37	chr3	40275428	40275428	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacagaggagttgatagcaGgatctacagggccctgggag	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40275428G>T	ENST00000302541.6	+	12	2326	c.1984G>T	c.(1984-1986)Gga>Tga	p.G662*	MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Nonsense_Mutation_p.G475*|MYRIP_ENST00000444716.1_Nonsense_Mutation_p.G662*|MYRIP_ENST00000396217.3_Nonsense_Mutation_p.G573*	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	662	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTTGATAGCAGGATCTACAGG	0.512													False	0	False	3:40275428	0	T	40275428	G	T	40275428	4	4	88	1	0	0	0	0	0	1	0	0	10167	1001	35	3	2026	3	MYRIP	3	40275428	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24040	40275428	157747002	3799	11511											
ZNF619	285267	broad.mit.edu	37	chr3	40523406	40523406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaacctttgaggatgtggCtgtgtacttcacccagaatg	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40523406C>T	ENST00000447116.2	+	3	384	c.77C>T	c.(76-78)gCt>gTt	p.A26V	ZNF619_ENST00000429348.2_Missense_Mutation_p.A26V|ZNF619_ENST00000432264.2_Missense_Mutation_p.A26V|ZNF619_ENST00000522736.1_5'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.A26V|ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000314686.5_5'UTR	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	26					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAGGATGTGGCTGTGTACTTC	0.517													False	0	False	3:40523406	0	T	40523406	C	T	40523406	3	4	88	1	0	0	0	0	1	0	0	0	18126	797	28	2	105	2	ZNF619	3	40523406	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	247978	40523406	157499024	3800	11512											
ZNF619	285267	broad.mit.edu	37	chr3	40524102	40524102	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catttccattccccaaaccaGatctgatattccagctggag	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40524102G>T	ENST00000447116.2	+	5	629	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	ZNF619_ENST00000429348.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000432264.2_Missense_Mutation_p.D68Y|ZNF619_ENST00000522736.1_Missense_Mutation_p.R35I|ZNF619_ENST00000521353.1_Missense_Mutation_p.D108Y|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.D24Y|ZNF619_ENST00000314686.5_Missense_Mutation_p.R35I	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	108					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCCAAACCAGATCTGATATT	0.532													False	0	False	3:40524102	0	T	40524102	G	T	40524102	3	4	88	1	0	0	0	0	1	0	0	0	18126	942	33	3	358	3	ZNF619	3	40524102	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	696	40524102	157498328	3801	11513											
ZNF619	285267	broad.mit.edu	37	chr3	40528333	40528333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaatgaggaaaaaactgCacagctaaacatttctaaag	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40528333C>T	ENST00000447116.2	+	6	759	c.452C>T	c.(451-453)gCa>gTa	p.A151V	ZNF619_ENST00000429348.2_Missense_Mutation_p.A111V|ZNF619_ENST00000432264.2_Missense_Mutation_p.A111V|ZNF619_ENST00000522736.1_Missense_Mutation_p.A102V|ZNF619_ENST00000521353.1_Missense_Mutation_p.A151V|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Missense_Mutation_p.A67V|ZNF619_ENST00000314686.5_Missense_Mutation_p.A95V	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	151					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAAAAAACTGCACAGCTAAAC	0.418													False	0	False	3:40528333	0	T	40528333	C	T	40528333	3	4	88	1	0	0	0	0	1	0	0	0	18126	710	25	2	492	2	ZNF619	3	40528333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4231	40528333	157494097	3802	11514											
ZNF619	285267	broad.mit.edu	37	chr3	40528415	40528415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgttccccagcaccctgaCttcaaggacaggttagagaa	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40528415C>T	ENST00000447116.2	+	6	841	c.534C>T	c.(532-534)gaC>gaT	p.D178D	ZNF619_ENST00000429348.2_Silent_p.D138D|ZNF619_ENST00000432264.2_Silent_p.D138D|ZNF619_ENST00000522736.1_Silent_p.D129D|ZNF619_ENST00000521353.1_Silent_p.D178D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Silent_p.D94D|ZNF619_ENST00000314686.5_Silent_p.D122D	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	178					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGCACCCTGACTTCAAGGACA	0.443													False	0	False	3:40528415	0	T	40528415	C	T	40528415	2	4	88	1	0	0	0	0	0	0	0	1	18126	564	20	2		2	ZNF619	3	40528415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82	40528415	157494015	3803	11515											
ZNF619	285267	broad.mit.edu	37	chr3	40529531	40529531	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctccccaacatacctgCtctgccctagccccaccagg	6	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40529531C>T	ENST00000447116.2	+	6	1957	c.1650C>T	c.(1648-1650)tgC>tgT	p.C550C	ZNF619_ENST00000429348.2_Silent_p.C510C|ZNF619_ENST00000432264.2_Silent_p.C510C|ZNF619_ENST00000522736.1_Silent_p.C501C|ZNF619_ENST00000521353.1_Silent_p.C550C|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Silent_p.C466C|ZNF619_ENST00000314686.5_Silent_p.C494C	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	550					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AACATACCTGCTCTGCCCTAG	0.547													False	0	False	3:40529531	0	T	40529531	C	T	40529531	2	4	88	1	0	0	0	0	0	0	0	1	18126	805	28	2		2	ZNF619	3	40529531	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1116	40529531	157492899	3804	11516											
ZNF620	253639	broad.mit.edu	37	chr3	40558249	40558249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcgagttcacactggCgagaaaccttatgagtgtaa	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40558249C>T	ENST00000314529.6	+	5	1313	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	ZNF620_ENST00000418905.1_Silent_p.G274G	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TTCACACTGGCGAGAAACCTT	0.458													False	0	False	3:40558249	0	T	40558249	C	T	40558249	2	4	88	1	0	0	0	0	0	0	0	1	18127	755	27	1		1	ZNF620	3	40558249	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28718	40558249	157464181	3805	11517											
ZNF621	285268	broad.mit.edu	37	chr3	40571782	40571782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagatccctgggacacCgagattctgagaggcatcag	13	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40571782C>T	ENST00000339296.5	+	4	686	c.234C>T	c.(232-234)acC>acT	p.T78T	ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000310898.1_Silent_p.T78T|ZNF621_ENST00000403205.2_Silent_p.T78T	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CCTGGGACACCGAGATTCTGA	0.488													False	0	False	3:40571782	0	T	40571782	C	T	40571782	2	4	88	1	0	0	0	0	0	0	0	1	18128	639	23	1		1	ZNF621	3	40571782	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13533	40571782	157450648	3806	11518											
CTNNB1	1499	broad.mit.edu	37	chr3	41266622	41266622	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acatgcagttgtaaacttgaTtaactatcaagatgatgcag	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41266622T>A	ENST00000349496.5	+	4	699	c.419T>A	c.(418-420)aTt>aAt	p.I140N	CTNNB1_ENST00000396183.3_Missense_Mutation_p.I140N|CTNNB1_ENST00000396185.3_Missense_Mutation_p.I140N|CTNNB1_ENST00000405570.1_Missense_Mutation_p.I140N|CTNNB1_ENST00000453024.1_Missense_Mutation_p.I133N	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	140					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_Q143del(7)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.I35_K170del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTAAACTTGATTAACTATCAA	0.438		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				False	0	False	3:41266622	0	A	41266622	T	A	41266622	3	1	88	1	0	0	0	0	1	0	0	0	4041	1493	52	5	429	5	CTNNB1	3	41266622	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	694840	41266622	156755808	3807	11519											
CTNNB1	1499	broad.mit.edu	37	chr3	41275022	41275022	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttttatctccataggaAgggatggaaggtctccttgg	12	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275022A>C	ENST00000349496.5	+	9	1468	c.1188A>C	c.(1186-1188)gaA>gaC	p.E396D	CTNNB1_ENST00000396183.3_Missense_Mutation_p.E396D|CTNNB1_ENST00000396185.3_Missense_Mutation_p.E396D|CTNNB1_ENST00000405570.1_Missense_Mutation_p.E396D|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E389D	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	396					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTCCATAGGAAGGGATGGAAG	0.433		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				False	0	True	3:41275022	0	C	41275022	A	C	41275022	3	2	88	1	0	0	0	0	1	0	0	0	4041	69	3	4	1218	4	CTNNB1	3	41275022	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8400	41275022	156747408	3808	11520											
CTNNB1	1499	broad.mit.edu	37	chr3	41275077	41275077	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggttcagatgatataAatgtggtcacctgtgcagct	11	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275077A>C	ENST00000349496.5	+	9	1523	c.1243A>C	c.(1243-1245)Aat>Cat	p.N415H	CTNNB1_ENST00000396183.3_Missense_Mutation_p.N415H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.N415H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.N415H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.N408H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	415					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AGATGATATAAATGTGGTCAC	0.428		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				False	0	True	3:41275077	0	C	41275077	A	C	41275077	3	2	88	1	0	0	0	0	1	0	0	0	4041	14	1	4	1273	4	CTNNB1	3	41275077	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55	41275077	156747353	3809	11521											
CTNNB1	1499	broad.mit.edu	37	chr3	41275096	41275096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtggtcacctgtgcagCtggaattctttctaacctca	8	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275096C>T	ENST00000349496.5	+	9	1542	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V	CTNNB1_ENST00000396183.3_Missense_Mutation_p.A421V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A421V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.A421V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A414V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	421					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACCTGTGCAGCTGGAATTCTT	0.453		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				False	0	False	3:41275096	0	T	41275096	C	T	41275096	3	4	88	1	0	0	0	0	1	0	0	0	4041	797	28	2	1292	2	CTNNB1	3	41275096	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	41275096	156747334	3810	11522											
CTNNB1	1499	broad.mit.edu	37	chr3	41275730	41275730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actagttcagttgcttgttcGtgcacatcaggatacccagc	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275730G>A	ENST00000349496.5	+	10	1905	c.1625G>A	c.(1624-1626)cGt>cAt	p.R542H	CTNNB1_ENST00000396183.3_Missense_Mutation_p.R542H|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R542H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R542H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R535H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	542					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TTGCTTGTTCGTGCACATCAG	0.488		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				False	0	False	3:41275730	0	A	41275730	G	A	41275730	3	1	88	1	0	0	0	0	1	0	0	0	4041	1145	40	1	1659	1	CTNNB1	3	41275730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	634	41275730	156746700	3811	11523											
ULK4	54986	broad.mit.edu	37	chr3	41746752	41746752	+	Missense_Mutation	SNP	C	C	T													cagggtctactcacctatggCtccatctatgttcgtttctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41746752C>T	ENST00000301831.4	-	26	3142	c.2680G>A	c.(2680-2682)Gcc>Acc	p.A894T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	894							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCACCTATGGCTCCATCTATG	0.284													False	0	False	3:41746752	0	T	41746752	C	T	41746752	3	4	88	1	0	0	0	0	1	0	0	0	17062	797	28	2	1195	2	ULK4	3	41746752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	471022	41746752	156275678	3812	11524	163	2									
ULK4	54986	broad.mit.edu	37	chr3	41746756	41746756	+	Silent	SNP	A	A	G													gtctactcacctatggctccAtctatgttcgtttctcctga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41746756A>G	ENST00000301831.4	-	26	3138	c.2676T>C	c.(2674-2676)gaT>gaC	p.D892D		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	892							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTATGGCTCCATCTATGTTCG	0.274													False	0	False	3:41746756	0	G	41746756	A	G	41746756	2	3	88	1	0	0	0	0	0	0	0	1	17062	214	8	4		4	ULK4	3	41746756	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4	41746756	156275674	3813	11525	163	2									
ULK4	54986	broad.mit.edu	37	chr3	41756938	41756938	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcaatacaatagtaCctgtgaagttacgaggtgaa	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41756938C>A	ENST00000301831.4	-	24	3040		c.e24+1			NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4								ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TACAATAGTACCTGTGAAGTT	0.393													False	0	False	3:41756938	0	A	41756938	C	A	41756938	5	1	88	1	0	0	0	0	0	0	1	0	17062	521	18	3	1305	3	ULK4	3	41756938	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10182	41756938	156265492	3814	11526											
ULK4	54986	broad.mit.edu	37	chr3	41841755	41841756	+	Frame_Shift_Ins	INS	-	-	C													cagacattttcaataattttINStgctgccatgtgattcacaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41841755_41841756insC	ENST00000301831.4	-	20	2340_2341	c.1878_1879insG	c.(1876-1881)gcaaaafs	p.K627fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	627							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCAATAATTTTTGCTGCCATGT	0.361													False	0	True	3:41841755	0	C	41841756	-	C	41841755	7	5	88	1	0	1	1	0	0	0	0	0	17062	1850	64	0	2020	0	ULK4	3	41841755	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	84817	41841755	156180675	3815	11527											
ULK4	54986	broad.mit.edu	37	chr3	41939937	41939937	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcctacctgaatatgttggTagatgcaatatttttgcatc	7	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41939937T>C	ENST00000301831.4	-	14	1797	c.1335A>G	c.(1333-1335)ctA>ctG	p.L445L	ULK4_ENST00000420927.1_Silent_p.L445L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	445							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AATATGTTGGTAGATGCAATA	0.284													False	0	False	3:41939937	0	C	41939937	T	C	41939937	2	2	88	1	0	0	0	0	0	0	0	1	17062	1625	57	4		4	ULK4	3	41939937	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	98182	41939937	156082493	3816	11528											
TRAK1	22906	broad.mit.edu	37	chr3	42167076	42167076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaacattgacctcacaaccGagcaaattgaagagacgtta	7	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42167076G>A	ENST00000327628.5	+	2	656	c.256G>A	c.(256-258)Gag>Aag	p.E86K	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	86	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTCACAACCGAGCAAATTGA	0.448													False	0	False	3:42167076	0	A	42167076	G	A	42167076	3	1	88	1	0	0	0	0	1	0	0	0	16532	1059	37	1	262	1	TRAK1	3	42167076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227139	42167076	155855354	3817	11529											
TRAK1	22906	broad.mit.edu	37	chr3	42226281	42226281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggagcaggtggaacaCatcagggaggaggtaagaca	17	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42226281C>T	ENST00000327628.5	+	4	868	c.468C>T	c.(466-468)caC>caT	p.H156H	TRAK1_ENST00000449246.1_Silent_p.H82H|TRAK1_ENST00000341421.3_Silent_p.H98H|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Silent_p.H98H	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	156	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGTGGAACACATCAGGGAGG	0.582													False	0	False	3:42226281	0	T	42226281	C	T	42226281	2	4	88	1	0	0	0	0	0	0	0	1	16532	477	17	2		2	TRAK1	3	42226281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59205	42226281	155796149	3818	11530											
TRAK1	22906	broad.mit.edu	37	chr3	42234671	42234671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacctgctatcgcaaataGttgatttgcagaaaaaggca	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42234671G>A	ENST00000327628.5	+	8	1274	c.874G>A	c.(874-876)Gtt>Att	p.V292I	TRAK1_ENST00000449246.1_Missense_Mutation_p.V218I|TRAK1_ENST00000341421.3_Missense_Mutation_p.V234I|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.V234I	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	292	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATCGCAAATAGTTGATTTGCA	0.478													False	0	False	3:42234671	0	A	42234671	G	A	42234671	3	1	88	1	0	0	0	0	1	0	0	0	16532	1029	36	2	1020	2	TRAK1	3	42234671	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8390	42234671	155787759	3819	11531											
TRAK1	22906	broad.mit.edu	37	chr3	42236404	42236404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaataccacgtctcggCgctaccactcactgggcctg	9	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42236404C>T	ENST00000327628.5	+	10	1484	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	TRAK1_ENST00000449246.1_Missense_Mutation_p.R288C|TRAK1_ENST00000341421.3_Missense_Mutation_p.R304C|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.R304C	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	362	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CACGTCTCGGCGCTACCACTC	0.572													False	0	False	3:42236404	0	T	42236404	C	T	42236404	3	4	88	1	0	0	0	0	1	0	0	0	16532	768	27	1	1238	1	TRAK1	3	42236404	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1733	42236404	155786026	3820	11532											
TRAK1	22906	broad.mit.edu	37	chr3	42244300	42244300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggactccctttggtcCctgatccacctgcggaaggc	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42244300C>T	ENST00000449246.1	+	12	1879	c.1578C>T	c.(1576-1578)tcC>tcT	p.S526S	TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000341421.3_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron	NM_001265609.1|NM_001265610.1	NP_001252538.1|NP_001252539.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCTTTGGTCCCTGATCCACC	0.637													False	0	True	3:42244300	0	T	42244300	C	T	42244300	2	4	88	1	0	0	0	0	0	0	0	1	16532	638	22	2		2	TRAK1	3	42244300	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7896	42244300	155778130	3821	11533											
VIPR1	7433	broad.mit.edu	37	chr3	42568884	42568884	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctccctgtccctccaacaGcagcagaccatgttctacgg	7	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42568884G>T	ENST00000433647.1	+	6	900		c.e6-1		VIPR1_ENST00000473575.1_Splice_Site|VIPR1_ENST00000438259.2_Intron|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000543411.1_Intron|VIPR1_ENST00000325123.4_Splice_Site|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1						digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCTCCAACAGCAGCAGACCA	0.617													False	0	True	3:42568884	0	T	42568884	G	T	42568884	5	4	88	1	0	0	0	0	0	0	1	0	17253	985	34	3	417	3	VIPR1	3	42568884	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	324584	42568884	155453546	3822	11534											
NKTR	4820	broad.mit.edu	37	chr3	42672059	42672059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacaaagcctgctccacaCctggatgggtaagagttaca	9	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42672059C>T	ENST00000232978.8	+	7	584	c.396C>T	c.(394-396)caC>caT	p.H132H	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	132	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTGCTCCACACCTGGATGGGT	0.453													False	0	False	3:42672059	0	T	42672059	C	T	42672059	2	4	88	1	0	0	0	0	0	0	0	1	10516	506	18	2		2	NKTR	3	42672059	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103175	42672059	155350371	3823	11535											
NKTR	4820	broad.mit.edu	37	chr3	42681067	42681067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgcttaaaccgtagaCcaagaaatcaggagagttca	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42681067C>T	ENST00000232978.8	+	13	4059	c.3871C>T	c.(3871-3873)Cca>Tca	p.P1291S	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1291					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAACCGTAGACCAAGAAATCA	0.428													False	0	False	3:42681067	0	T	42681067	C	T	42681067	3	4	88	1	0	0	0	0	1	0	0	0	10516	507	18	2	3917	2	NKTR	3	42681067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9008	42681067	155341363	3824	11536											
NKTR	4820	broad.mit.edu	37	chr3	42685488	42685488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagaagttataatcggCggtccaggtgggtctctctc	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42685488C>T	ENST00000232978.8	+	16	4482	c.4294C>T	c.(4294-4296)Cgg>Tgg	p.R1432W	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1432					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TTATAATCGGCGGTCCAGGTG	0.527													False	0	False	3:42685488	0	T	42685488	C	T	42685488	3	4	88	1	0	0	0	0	1	0	0	0	10516	759	27	1	4352	1	NKTR	3	42685488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4421	42685488	155336942	3825	11537											
ZBTB47	92999	broad.mit.edu	37	chr3	42705408	42705408	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaacatgaagcagtacttCgatgagcacatgaagaccca	8	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42705408C>T	ENST00000457842.3	+	5	2138	c.729C>T	c.(727-729)ttC>ttT	p.F243F	ZBTB47_ENST00000505904.1_Silent_p.F165F|ZBTB47_ENST00000232974.6_Silent_p.F619F	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		AGCAGTACTTCGATGAGCACA	0.592													False	0	False	3:42705408	0	T	42705408	C	T	42705408	2	4	88	1	0	0	0	0	0	0	0	1	17631	883	31	1		1	ZBTB47	3	42705408	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19920	42705408	155317022	3826	11538											
CCDC13	152206	broad.mit.edu	37	chr3	42775003	42775003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgatcgcctgctgaggcCggggacttggtcaggcctgg	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42775003C>T	ENST00000310232.6	-	11	1553	c.1470G>A	c.(1468-1470)ccG>ccA	p.P490P	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	490										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTGCTGAGGCCGGGGACTTGG	0.547													False	0	True	3:42775003	0	T	42775003	C	T	42775003	2	4	88	1	0	0	0	0	0	0	0	1	2785	639	23	1		1	CCDC13	3	42775003	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69595	42775003	155247427	3827	11539											
CCDC13	152206	broad.mit.edu	37	chr3	42777266	42777266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccgctcagctaccatgGcctgcagctgggcgactagg	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42777266G>A	ENST00000310232.6	-	10	1387	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	435										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AGCTACCATGGCCTGCAGCTG	0.602													False	0	False	3:42777266	0	A	42777266	G	A	42777266	3	1	88	1	0	0	0	0	1	0	0	0	2785	1203	42	2	871	2	CCDC13	3	42777266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2263	42777266	155245164	3828	11540											
CCDC13	152206	broad.mit.edu	37	chr3	42781273	42781273	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttagctcttcaagctctctCtggaggacatcccgttcact	7	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42781273C>T	ENST00000310232.6	-	9	1100	c.1017G>A	c.(1015-1017)caG>caA	p.Q339Q	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	339										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CAAGCTCTCTCTGGAGGACAT	0.532													False	0	True	3:42781273	0	T	42781273	C	T	42781273	2	4	88	1	0	0	0	0	0	0	0	1	2785	912	32	2		2	CCDC13	3	42781273	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4007	42781273	155241157	3829	11541											
CYP8B1	1582	broad.mit.edu	37	chr3	42916392	42916392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcttcctccctcacagccCgaatagcttctgggtgcttc	8	15	2	0	rs148690797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42916392C>T	ENST00000316161.4	-	1	1241	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R306Q	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	306					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	p.R306Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCTCACAGCCCGAATAGCTTC	0.587													False	0	True	3:42916392	0	T	42916392	C	T	42916392	3	4	88	1	0	0	0	0	1	0	0	0	4223	652	23	1	592	1	CYP8B1	3	42916392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135119	42916392	155106038	3830	11542											
ZNF662	389114	broad.mit.edu	37	chr3	42956202	42956202	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actttgatcaacaccagaaaActcataatggagagaaggtc	8	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956202A>C	ENST00000541208.1	+	5	1006	c.637A>C	c.(637-639)Act>Cct	p.T213P	ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.T213P|ZNF662_ENST00000328199.6_Missense_Mutation_p.T239P			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACACCAGAAAACTCATAATGG	0.378													False	0	True	3:42956202	0	C	42956202	A	C	42956202	3	2	88	1	0	0	0	0	1	0	0	0	18154	43	2	4	838	4	ZNF662	3	42956202	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39810	42956202	155066228	3831	11543											
ZNF662	389114	broad.mit.edu	37	chr3	42956386	42956386	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaatacatactggagagaAaccctttgaatgtaaggaat	10	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956386A>C	ENST00000541208.1	+	5	1190	c.821A>C	c.(820-822)aAa>aCa	p.K274T	ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.K274T|ZNF662_ENST00000328199.6_Missense_Mutation_p.K300T			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACTGGAGAGAAACCCTTTGAA	0.438													False	0	True	3:42956386	0	C	42956386	A	C	42956386	3	2	88	1	0	0	0	0	1	0	0	0	18154	14	1	4	1022	4	ZNF662	3	42956386	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	184	42956386	155066044	3832	11544											
ZNF662	389114	broad.mit.edu	37	chr3	42956441	42956441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcagaacacaagccttacGcaacatcaacggatccacac	6	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956441G>A	ENST00000541208.1	+	5	1245	c.876G>A	c.(874-876)acG>acA	p.T292T	ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000440367.2_Silent_p.T292T|ZNF662_ENST00000328199.6_Silent_p.T318T			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAAGCCTTACGCAACATCAAC	0.453													False	0	False	3:42956441	0	A	42956441	G	A	42956441	2	1	88	1	0	0	0	0	0	0	0	1	18154	1074	38	1		1	ZNF662	3	42956441	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55	42956441	155065989	3833	11545											
ZNF662	389114	broad.mit.edu	37	chr3	42956571	42956571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagccttacgaatgtaagGactgtgggaagggcttcatg	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956571G>A	ENST00000541208.1	+	5	1375	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.D336N|ZNF662_ENST00000328199.6_Missense_Mutation_p.D362N			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CGAATGTAAGGACTGTGGGAA	0.488													False	0	False	3:42956571	0	A	42956571	G	A	42956571	3	1	88	1	0	0	0	0	1	0	0	0	18154	1174	41	2	1207	2	ZNF662	3	42956571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130	42956571	155065859	3834	11546											
SNRK	54861	broad.mit.edu	37	chr3	43344702	43344702	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgttggaccagcatggcaGgatttaagcgagggtatgat	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43344702G>T	ENST00000296088.7	+	3	311	c.7G>T	c.(7-9)Gga>Tga	p.G3*	SNRK_ENST00000437827.1_Intron|SNRK_ENST00000454177.1_Nonsense_Mutation_p.G3*|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000429705.2_Nonsense_Mutation_p.G3*	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	3					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CAGCATGGCAGGATTTAAGCG	0.363													False	0	False	3:43344702	0	T	43344702	G	T	43344702	4	4	88	1	0	0	0	0	0	1	0	0	14931	1001	35	3	9	3	SNRK	3	43344702	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	388131	43344702	154677728	3835	11547											
SNRK	54861	broad.mit.edu	37	chr3	43389079	43389079	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggcggaagtgtctgtTcagggtggaagaagatgaag	18	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43389079T>G	ENST00000296088.7	+	7	1632	c.1328T>G	c.(1327-1329)tTc>tGc	p.F443C	SNRK_ENST00000437827.1_Missense_Mutation_p.F237C|SNRK_ENST00000454177.1_Missense_Mutation_p.F443C|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000429705.2_Missense_Mutation_p.F443C	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	443					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AAGTGTCTGTTCAGGGTGGAA	0.537													False	0	False	3:43389079	0	G	43389079	T	G	43389079	3	3	88	1	0	0	0	0	1	0	0	0	14931	1783	62	4	1346	4	SNRK	3	43389079	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44377	43389079	154633351	3836	11548											
ANO10	55129	broad.mit.edu	37	chr3	43640110	43640110	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagattttcaagttcatgtTtgataatgaattgacattct	6	4	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43640110T>C	ENST00000292246.3	-	4	556	c.386A>G	c.(385-387)aAa>aGa	p.K129R	ANO10_ENST00000350459.4_Missense_Mutation_p.K129R|ANO10_ENST00000396091.3_Missense_Mutation_p.K63R|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000414522.2_Missense_Mutation_p.K129R	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	129					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AAGTTCATGTTTGATAATGAA	0.289													False	0	True	3:43640110	0	C	43640110	T	C	43640110	3	2	88	1	0	0	0	0	1	0	0	0	696	1841	64	4	1636	4	ANO10	3	43640110	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	251031	43640110	154382320	3837	11549											
ZNF445	353274	broad.mit.edu	37	chr3	44488939	44488939	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgtcctgactaaaagAtggcccgccctcaggttttc	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44488939A>G	ENST00000425708.2	-	7	2565	c.2224T>C	c.(2224-2226)Tct>Cct	p.S742P	ZNF445_ENST00000396077.2_Missense_Mutation_p.S742P			P59923	ZN445_HUMAN	zinc finger protein 445	742					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGACTAAAAGATGGCCCGCCC	0.493													False	0	False	3:44488939	0	G	44488939	A	G	44488939	3	3	88	1	0	0	0	0	1	0	0	0	18001	333	12	4	875	4	ZNF445	3	44488939	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	848829	44488939	153533491	3838	11550											
ZNF445	353274	broad.mit.edu	37	chr3	44492866	44492866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggctccaggtggtcccCcagagcagagctgctcctga	15	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44492866C>T	ENST00000425708.2	-	3	879	c.538G>A	c.(538-540)Ggg>Agg	p.G180R	ZNF445_ENST00000396077.2_Missense_Mutation_p.G180R			P59923	ZN445_HUMAN	zinc finger protein 445	180					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGTGGTCCCCCAGAGCAGAG	0.587													False	0	True	3:44492866	0	T	44492866	C	T	44492866	3	4	88	1	0	0	0	0	1	0	0	0	18001	623	22	2	2577	2	ZNF445	3	44492866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3927	44492866	153529564	3839	11551											
ZNF445	353274	broad.mit.edu	37	chr3	44497024	44497024	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctggataggcagcatgCcacctgcctggaggcatcac	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44497024C>T	ENST00000425708.2	-	2	359	c.18G>A	c.(16-18)tgG>tgA	p.W6*	ZNF445_ENST00000396077.2_Nonsense_Mutation_p.W6*			P59923	ZN445_HUMAN	zinc finger protein 445	6					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGCAGCATGCCACCTGCCTG	0.547													False	0	False	3:44497024	0	T	44497024	C	T	44497024	4	4	88	1	0	0	0	0	0	1	0	0	18001	740	26	2	3101	2	ZNF445	3	44497024	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4158	44497024	153525406	3840	11552											
ZNF660	285349	broad.mit.edu	37	chr3	44635870	44635870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaagcctttagtcagaGtgcaaacctcacagtacatg	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44635870G>T	ENST00000322734.2	+	3	518	c.185G>T	c.(184-186)aGt>aTt	p.S62I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TTTAGTCAGAGTGCAAACCTC	0.438													False	0	False	3:44635870	0	T	44635870	G	T	44635870	3	4	88	1	0	0	0	0	1	0	0	0	18153	1029	36	3	187	3	ZNF660	3	44635870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138846	44635870	153386560	3841	11553											
ZNF660	285349	broad.mit.edu	37	chr3	44636401	44636401	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttaatgaacaccagagacTtcatcgtagagagaaacctt	7	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44636401T>G	ENST00000322734.2	+	3	1049	c.716T>G	c.(715-717)cTt>cGt	p.L239R	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CACCAGAGACTTCATCGTAGA	0.388													False	0	False	3:44636401	0	G	44636401	T	G	44636401	3	3	88	1	0	0	0	0	1	0	0	0	18153	1609	56	4	718	4	ZNF660	3	44636401	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	531	44636401	153386029	3842	11554											
ZNF35	7584	broad.mit.edu	37	chr3	44700999	44700999	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatcttattgtacatcagCgaagccatactggtgagaag	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44700999C>T	ENST00000396056.2	+	4	1379	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	ZNF35_ENST00000542250.1_Nonsense_Mutation_p.R222*|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	382					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TGTACATCAGCGAAGCCATAC	0.468													False	0	False	3:44700999	0	T	44700999	C	T	44700999	4	4	88	1	0	0	0	0	0	1	0	0	17945	760	27	1	1154	1	ZNF35	3	44700999	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64598	44700999	153321431	3843	11555											
ZNF502	91392	broad.mit.edu	37	chr3	44763223	44763223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaatgtggctcttcttttcGaaaacactcaaatcttacgc	6	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44763223G>A	ENST00000296091.4	+	4	1170	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	ZNF502_ENST00000436624.2_Missense_Mutation_p.R305Q|ZNF502_ENST00000449836.1_Missense_Mutation_p.R305Q	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCTTCTTTTCGAAAACACTCA	0.408													False	0	True	3:44763223	0	A	44763223	G	A	44763223	3	1	88	1	0	0	0	0	1	0	0	0	18033	1058	37	1	920	1	ZNF502	3	44763223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62224	44763223	153259207	3844	11556											
ZNF501	115560	broad.mit.edu	37	chr3	44776675	44776675	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttggatgtgggaaatcCtttaggcacagttcagcact	12	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44776675C>A	ENST00000396048.2	+	3	1199	c.762C>A	c.(760-762)tcC>tcA	p.S254S		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GTGGGAAATCCTTTAGGCACA	0.403													False	0	True	3:44776675	0	A	44776675	C	A	44776675	2	1	88	1	0	0	0	0	0	0	0	1	18032	668	24	3		3	ZNF501	3	44776675	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13452	44776675	153245755	3845	11557											
KIAA1143	57456	broad.mit.edu	37	chr3	44803019	44803019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggtccctccctgtagcCgacccgttccttgaagcggg	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44803019C>T	ENST00000296121.4	-	1	135	c.76G>A	c.(76-78)Ggc>Agc	p.G26S		NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	26										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCCCTGTAGCCGACCCGTTCC	0.592													False	0	False	3:44803019	0	T	44803019	C	T	44803019	3	4	88	1	0	0	0	0	1	0	0	0	8259	652	23	1	400	1	KIAA1143	3	44803019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26344	44803019	153219411	3846	11558											
KIF15	56992	broad.mit.edu	37	chr3	44867540	44867540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttataaaggttagaaaaCgaaaagctgcttgagagcaa	9	6	0	2	rs146760782		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44867540C>T	ENST00000326047.4	+	21	2708	c.2559C>T	c.(2557-2559)aaC>aaT	p.N853N	KIF15_ENST00000425755.1_Silent_p.N488N	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	853					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GGTTAGAAAACGAAAAGCTGC	0.308													False	0	True	3:44867540	0	T	44867540	C	T	44867540	2	4	88	1	0	0	0	0	0	0	0	1	8327	535	19	1		1	KIF15	3	44867540	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64521	44867540	153154890	3847	11559											
KIF15	56992	broad.mit.edu	37	chr3	44867676	44867676	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgaaactctgaaatctgatCtgaatgtatgttaagaaggg	10	4	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44867676C>A	ENST00000326047.4	+	21	2844	c.2695C>A	c.(2695-2697)Ctg>Atg	p.L899M	KIF15_ENST00000425755.1_Missense_Mutation_p.L534M	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	899					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAATCTGATCTGAATGTATG	0.368													False	0	True	3:44867676	0	A	44867676	C	A	44867676	3	1	88	1	0	0	0	0	1	0	0	0	8327	912	32	3	2777	3	KIF15	3	44867676	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136	44867676	153154754	3848	11560											
KIF15	56992	broad.mit.edu	37	chr3	44872399	44872399	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttctacagtgcaaatacaaCtctgctttggttgacagaga	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44872399C>A	ENST00000326047.4	+	26	3209	c.3060C>A	c.(3058-3060)aaC>aaA	p.N1020K	KIF15_ENST00000425755.1_Missense_Mutation_p.N655K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1020					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GCAAATACAACTCTGCTTTGG	0.383													False	0	False	3:44872399	0	A	44872399	C	A	44872399	3	1	88	1	0	0	0	0	1	0	0	0	8327	564	20	3	3162	3	KIF15	3	44872399	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4723	44872399	153150031	3849	11561											
TGM4	7047	broad.mit.edu	37	chr3	44929289	44929289	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagtctggcaaagaggTgagcacccactgggctggcg	15	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44929289T>C	ENST00000296125.4	+	3	368		c.e3+2			NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4						peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGCAAAGAGGTGAGCACCCAC	0.597													False	0	False	3:44929289	0	C	44929289	T	C	44929289	5	2	88	1	0	0	0	0	0	0	1	0	15914	1710	59	4	312	4	TGM4	3	44929289	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56890	44929289	153093141	3850	11562											
TGM4	7047	broad.mit.edu	37	chr3	44943361	44943361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacagaaaggaacctcacGgtggacacctatgtgaatga	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44943361G>A	ENST00000296125.4	+	8	977	c.909G>A	c.(907-909)acG>acA	p.T303T		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	303					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T303T(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGAACCTCACGGTGGACACCT	0.542													False	0	False	3:44943361	0	A	44943361	G	A	44943361	2	1	88	1	0	0	0	0	0	0	0	1	15914	1103	39	1		1	TGM4	3	44943361	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14072	44943361	153079069	3851	11563											
CDCP1	64866	broad.mit.edu	37	chr3	45160072	45160072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccccagctttatgagaaCtgtaatgttgctttctcgtg	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45160072C>T	ENST00000296129.1	-	2	258	c.124G>A	c.(124-126)Gtt>Att	p.V42I	CDCP1_ENST00000425231.2_Missense_Mutation_p.V42I|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	42						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTTATGAGAACTGTAATGTTG	0.438													False	0	False	3:45160072	0	T	45160072	C	T	45160072	3	4	88	1	0	0	0	0	1	0	0	0	3116	565	20	2	2426	2	CDCP1	3	45160072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216711	45160072	152862358	3852	11564											
LARS2	23395	broad.mit.edu	37	chr3	45459025	45459025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgcctgctgaaaatgccGcagtcgagaggaatctacat	11	9	1	2	rs150836537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45459025G>A	ENST00000415258.1	+	4	556	c.415G>A	c.(415-417)Gca>Aca	p.A139T	LARS2_ENST00000265537.3_Missense_Mutation_p.A139T|LARS2_ENST00000414984.1_Missense_Mutation_p.A96T			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	139					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGAAAATGCCGCAGTCGAGAG	0.398													False	0	False	3:45459025	0	A	45459025	G	A	45459025	3	1	88	1	0	0	0	0	1	0	0	0	8686	1087	38	1	425	1	LARS2	3	45459025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	298953	45459025	152563405	3853	11565											
LARS2	23395	broad.mit.edu	37	chr3	45530205	45530205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataggaattcccagtactagCtcagaggacaccatcttagc	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45530205C>T	ENST00000415258.1	+	11	1281	c.1140C>T	c.(1138-1140)agC>agT	p.S380S	LARS2_ENST00000265537.3_Silent_p.S380S|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Silent_p.S337S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	380					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CCAGTACTAGCTCAGAGGACA	0.473													False	0	False	3:45530205	0	T	45530205	C	T	45530205	2	4	88	1	0	0	0	0	0	0	0	1	8686	796	28	2		2	LARS2	3	45530205	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71180	45530205	152492225	3854	11566											
LIMD1	8994	broad.mit.edu	37	chr3	45636972	45636972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagtgtcccccagcatcGgcctgagtgtagggagtggg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45636972G>A	ENST00000273317.4	+	1	622	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.G201S	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	201					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCCCAGCATCGGCCTGAGTGT	0.597													False	0	False	3:45636972	0	A	45636972	G	A	45636972	3	1	88	1	0	0	0	0	1	0	0	0	8850	1116	39	1	603	1	LIMD1	3	45636972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106767	45636972	152385458	3855	11567											
LIMD1	8994	broad.mit.edu	37	chr3	45637385	45637385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacccccaaccctggttccaGgatgggcccaaatcttacct	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45637385G>T	ENST00000273317.4	+	1	1035	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.Q338H	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	338					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCTGGTTCCAGGATGGGCCCA	0.617													False	0	False	3:45637385	0	T	45637385	G	T	45637385	3	4	88	1	0	0	0	0	1	0	0	0	8850	991	35	3	1016	3	LIMD1	3	45637385	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	413	45637385	152385045	3856	11568											
SLC6A20	54716	broad.mit.edu	37	chr3	45800611	45800611	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgggtaatctttggtcacGagctggccctgaaaggagag	15	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45800611G>A	ENST00000358525.4	-	11	1753	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L	SLC6A20_ENST00000456124.2_Intron|SLC6A20_ENST00000353278.4_Silent_p.L509L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	546					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTTTGGTCACGAGCTGGCCCT	0.622													False	0	False	3:45800611	0	A	45800611	G	A	45800611	2	1	88	1	0	0	0	0	0	0	0	1	14764	1045	37	1		1	SLC6A20	3	45800611	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163226	45800611	152221819	3857	11569											
SLC6A20	54716	broad.mit.edu	37	chr3	45807055	45807055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcctccttgggcaggtggCtggagatgatcttgctgtct	15	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45807055C>A	ENST00000358525.4	-	8	1392	c.1277G>T	c.(1276-1278)aGc>aTc	p.S426I	SLC6A20_ENST00000456124.2_Missense_Mutation_p.S426I|SLC6A20_ENST00000353278.4_Missense_Mutation_p.S389I|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	426					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGGCAGGTGGCTGGAGATGAT	0.632													False	0	False	3:45807055	0	A	45807055	C	A	45807055	3	1	88	1	0	0	0	0	1	0	0	0	14764	797	28	3	517	3	SLC6A20	3	45807055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6444	45807055	152215375	3858	11570											
SLC6A20	54716	broad.mit.edu	37	chr3	45812884	45812884	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcaggctgccgaagcccaGgccaagtgagaagaagatct	13	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45812884G>T	ENST00000358525.4	-	6	875	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	SLC6A20_ENST00000456124.2_Missense_Mutation_p.L254M|SLC6A20_ENST00000353278.4_Missense_Mutation_p.L217M	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	254					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCGAAGCCCAGGCCAAGTGAG	0.582													False	0	False	3:45812884	0	T	45812884	G	T	45812884	3	4	88	1	0	0	0	0	1	0	0	0	14764	991	35	3	1042	3	SLC6A20	3	45812884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5829	45812884	152209546	3859	11571											
CCR9	10803	broad.mit.edu	37	chr3	45942482	45942482	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggtgccttgggcaacagtCttgttatccttgtctactgg	12	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45942482C>A	ENST00000357632.2	+	3	382	c.202C>A	c.(202-204)Ctt>Att	p.L68I	CCR9_ENST00000422395.1_Silent_p.V96V|CCR9_ENST00000395963.2_Missense_Mutation_p.L56I|CCR9_ENST00000355983.2_Missense_Mutation_p.L56I|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	68					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGGCAACAGTCTTGTTATCCT	0.473													False	0	False	3:45942482	0	A	45942482	C	A	45942482	3	1	88	1	0	0	0	0	1	0	0	0	2971	913	32	3	208	3	CCR9	3	45942482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129598	45942482	152079948	3860	11572											
FYCO1	79443	broad.mit.edu	37	chr3	46000959	46000959	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtttgcctctgtgtctccGagccatctctcctcagcact	8	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46000959G>A	ENST00000296137.2	-	12	3718	c.3513C>T	c.(3511-3513)ctC>ctT	p.L1171L	FYCO1_ENST00000535325.1_Silent_p.L1171L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1171					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTGTCTCCGAGCCATCTCT	0.577													False	0	False	3:46000959	0	A	46000959	G	A	46000959	2	1	88	1	0	0	0	0	0	0	0	1	6167	1045	37	1		1	FYCO1	3	46000959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58477	46000959	152021471	3861	11573											
FYCO1	79443	broad.mit.edu	37	chr3	46008354	46008354	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctgctgcacaagggtTttgtgctccctcaggacggc	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46008354T>G	ENST00000296137.2	-	8	2677	c.2472A>C	c.(2470-2472)aaA>aaC	p.K824N	FYCO1_ENST00000535325.1_Missense_Mutation_p.K824N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	824					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCACAAGGGTTTTGTGCTCCC	0.607													False	0	True	3:46008354	0	G	46008354	T	G	46008354	3	3	88	1	0	0	0	0	1	0	0	0	6167	1838	64	4	2008	4	FYCO1	3	46008354	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7395	46008354	152014076	3862	11574											
FYCO1	79443	broad.mit.edu	37	chr3	46008506	46008506	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttccagctgcgcctgagAcagggctagctgggcagcca	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46008506A>G	ENST00000296137.2	-	8	2525	c.2320T>C	c.(2320-2322)Tct>Cct	p.S774P	FYCO1_ENST00000535325.1_Missense_Mutation_p.S774P	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	774					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCGCCTGAGACAGGGCTAGC	0.632													False	0	False	3:46008506	0	G	46008506	A	G	46008506	3	3	88	1	0	0	0	0	1	0	0	0	6167	275	10	4	2160	4	FYCO1	3	46008506	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	152	46008506	152013924	3863	11575											
FYCO1	79443	broad.mit.edu	37	chr3	46009762	46009762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttgtccagtgagtccCgtgtggcctcaagctcctgt	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46009762C>T	ENST00000296137.2	-	8	1269	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	FYCO1_ENST00000535325.1_Missense_Mutation_p.R355Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	355					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAGTGAGTCCCGTGTGGCCTC	0.602													False	0	True	3:46009762	0	T	46009762	C	T	46009762	3	4	88	1	0	0	0	0	1	0	0	0	6167	652	23	1	3416	1	FYCO1	3	46009762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1256	46009762	152012668	3864	11576											
XCR1	2829	broad.mit.edu	37	chr3	46062946	46062946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaccttgtggaagatgGtgtcgaggatggaggacagg	17	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46062946G>A	ENST00000309285.3	-	2	850	c.494C>T	c.(493-495)aCc>aTc	p.T165I	XCR1_ENST00000542109.1_Missense_Mutation_p.T165I	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	165					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTGGAAGATGGTGTCGAGGAT	0.607													False	0	False	3:46062946	0	A	46062946	G	A	46062946	3	1	88	1	0	0	0	0	1	0	0	0	17509	1261	44	2	511	2	XCR1	3	46062946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53184	46062946	151959484	3865	11577											
XCR1	2829	broad.mit.edu	37	chr3	46063378	46063378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggcctggttctcacacGgctggctctgaaggtcatag	12	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46063378G>A	ENST00000309285.3	-	2	418	c.62C>T	c.(61-63)cCg>cTg	p.P21L	XCR1_ENST00000542109.1_Missense_Mutation_p.P21L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	21					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTTCTCACACGGCTGGCTCTG	0.552													False	0	True	3:46063378	0	A	46063378	G	A	46063378	3	1	88	1	0	0	0	0	1	0	0	0	17509	1116	39	1	943	1	XCR1	3	46063378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432	46063378	151959052	3866	11578											
CCR1	1230	broad.mit.edu	37	chr3	46244850	46244850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaggtgcacagccacacGcctgtggaacaactgccgca	10	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46244850G>A	ENST00000296140.3	-	2	1080	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	319					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAGCCACACGCCTGTGGAAC	0.592													False	0	False	3:46244850	0	A	46244850	G	A	46244850	3	1	88	1	0	0	0	0	1	0	0	0	2962	1087	38	1	116	1	CCR1	3	46244850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181472	46244850	151777580	3867	11579											
CCR1	1230	broad.mit.edu	37	chr3	46245532	46245532	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatccttcaacttgtagtcGatccagaagggaagcgtgaa	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46245532G>A	ENST00000296140.3	-	2	398	c.273C>T	c.(271-273)atC>atT	p.I91I	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	91					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACTTGTAGTCGATCCAGAAGG	0.453													False	0	False	3:46245532	0	A	46245532	G	A	46245532	2	1	88	1	0	0	0	0	0	0	0	1	2962	1048	37	1		1	CCR1	3	46245532	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	682	46245532	151776898	3868	11580											
CCR2	729230	broad.mit.edu	37	chr3	46399102	46399102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttttttgattatgattaCggtgctccctgtcataaatt	6	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46399102C>T	ENST00000292301.4	+	2	569	c.84C>T	c.(82-84)taC>taT	p.Y28Y	CCR2_ENST00000445132.2_Silent_p.Y28Y|CCR2_ENST00000400888.2_Silent_p.Y28Y|CCR2_ENST00000465202.1_Intron	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	28					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ATTATGATTACGGTGCTCCCT	0.478													False	0	False	3:46399102	0	T	46399102	C	T	46399102	2	4	88	1	0	0	0	0	0	0	0	1	2964	547	19	1		1	CCR2	3	46399102	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153570	46399102	151623328	3869	11581											
CCRL2	0	broad.mit.edu	37	chr3	46449860	46449860	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccttctgggctcatgCtgggggcgatcccatgtgta	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46449860C>A	ENST00000399036.3	+	2	642	c.290C>A	c.(289-291)gCt>gAt	p.A97D	CCRL2_ENST00000400882.2_Missense_Mutation_p.A97D|CCRL2_ENST00000400880.3_Missense_Mutation_p.A97D|CCRL2_ENST00000357392.4_Missense_Mutation_p.A109D	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2						chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TGGGCTCATGCTGGGGGCGAT	0.433													False	0	False	3:46449860	0	A	46449860	C	A	46449860	3	1	88	1	0	0	0	0	1	0	0	0	2973	797	28	3	332	3	CCRL2	3	46449860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50758	46449860	151572570	3870	11582											
CCRL2	0	broad.mit.edu	37	chr3	46450274	46450274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcagggagcagaggtataGccttttcaagcttgtttttg	12	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46450274G>A	ENST00000399036.3	+	2	1056	c.704G>A	c.(703-705)aGc>aAc	p.S235N	CCRL2_ENST00000400882.2_Missense_Mutation_p.S235N|CCRL2_ENST00000400880.3_Missense_Mutation_p.S235N|CCRL2_ENST00000357392.4_Missense_Mutation_p.S247N	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2						chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		CAGAGGTATAGCCTTTTCAAG	0.388													False	0	False	3:46450274	0	A	46450274	G	A	46450274	3	1	88	1	0	0	0	0	1	0	0	0	2973	971	34	2	746	2	CCRL2	3	46450274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	414	46450274	151572156	3871	11583											
LTF	4057	broad.mit.edu	37	chr3	46488808	46488808	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actccacttactgtagttctCtgccaggacaggcaccaaac	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46488808C>T	ENST00000231751.4	-	10	1589	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	LTF_ENST00000426532.2_Missense_Mutation_p.E388K|LTF_ENST00000417439.1_Missense_Mutation_p.E430K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	432	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CTGTAGTTCTCTGCCAGGACA	0.483													False	0	False	3:46488808	0	T	46488808	C	T	46488808	3	4	88	1	0	0	0	0	1	0	0	0	9141	922	32	2	870	2	LTF	3	46488808	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38534	46488808	151533622	3872	11584											
LRRC2	79442	broad.mit.edu	37	chr3	46580536	46580536	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgctaagttgacataccGatttctgctggaagatgtga	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46580536G>A	ENST00000395905.3	-	4	881	c.489C>T	c.(487-489)atC>atT	p.I163I	LRRC2_ENST00000296144.3_Splice_Site_p.I163I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	163										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TTGACATACCGATTTCTGCTG	0.453													False	0	False	3:46580536	0	A	46580536	G	A	46580536	5	1	88	1	0	0	0	0	0	0	1	0	9038	1072	37	1	650	1	LRRC2	3	46580536	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91728	46580536	151441894	3873	11585											
ALS2CL	259173	broad.mit.edu	37	chr3	46717749	46717749	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcccacctgtaggcagcccaGagttcctgggcatgctgctt	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46717749G>T	ENST00000318962.4	-	19	2255	c.2172C>A	c.(2170-2172)ctC>ctA	p.L724L	ALS2CL_ENST00000383742.3_Silent_p.L71L|ALS2CL_ENST00000415953.1_Silent_p.L724L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	724					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGGCAGCCCAGAGTTCCTGGG	0.607													False	0	False	3:46717749	0	T	46717749	G	T	46717749	2	4	88	1	0	0	0	0	0	0	0	1	551	929	33	3		3	ALS2CL	3	46717749	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137213	46717749	151304681	3874	11586											
PRSS45	377047	broad.mit.edu	37	chr3	46783961	46783961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttggtgtatttggtgatgCgggtgtacacacctggattc	13	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46783961C>T	ENST00000442359.2	-	4	565	c.566G>A	c.(565-567)cGc>cAc	p.R189H	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	221	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						TTTGGTGATGCGGGTGTACAC	0.552													False	0	True	3:46783961	0	T	46783961	C	T	46783961	3	4	88	1	0	0	0	0	1	0	0	0	12705	768	27	1	124	1	PRSS45	3	46783961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66212	46783961	151238469	3875	11587											
PRSS45	377047	broad.mit.edu	37	chr3	46784535	46784535	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgataaacacctcagcctcCtgcagctctggggtcagcat	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46784535C>A	ENST00000442359.2	-	3	320	c.321G>T	c.(319-321)caG>caT	p.Q107H	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	139	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCTCAGCCTCCTGCAGCTCTG	0.577													False	0	False	3:46784535	0	A	46784535	C	A	46784535	3	1	88	1	0	0	0	0	1	0	0	0	12705	680	24	3	373	3	PRSS45	3	46784535	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	574	46784535	151237895	3876	11588											
PRSS45	377047	broad.mit.edu	37	chr3	46785608	46785608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcttggaggtgccaaGcaccactgagtactctttgg	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46785608G>T	ENST00000442359.2	-	2	135	c.136C>A	c.(136-138)Ctt>Att	p.L46I	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	46	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GAGGTGCCAAGCACCACTGAG	0.587													False	0	False	3:46785608	0	T	46785608	G	T	46785608	3	4	88	1	0	0	0	0	1	0	0	0	12705	971	34	3	562	3	PRSS45	3	46785608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1073	46785608	151236822	3877	11589											
MYL3	4634	broad.mit.edu	37	chr3	46904811	46904811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggctcagggggaggtgCgggagctggagctgccttgg	20	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46904811C>T	ENST00000395869.1	-	1	121	c.70G>A	c.(70-72)Gca>Aca	p.A24T	MYL3_ENST00000292327.4_Missense_Mutation_p.A24T			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	24					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GGGGGAGGTGCGGGAGCTGGA	0.592													False	0	True	3:46904811	0	T	46904811	C	T	46904811	3	4	88	1	0	0	0	0	1	0	0	0	10115	768	27	1	541	1	MYL3	3	46904811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119203	46904811	151117619	3878	11590											
CCDC12	151903	broad.mit.edu	37	chr3	46966960	46966960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttacctgcaaccggtttgGcctggggcaccctcctcttc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46966960G>A	ENST00000425441.1	-	5	494	c.269C>T	c.(268-270)gCc>gTc	p.A90V	CCDC12_ENST00000546280.1_Missense_Mutation_p.A77V|CCDC12_ENST00000605358.1_5'UTR|CCDC12_ENST00000292314.2_Missense_Mutation_p.A90V	NM_001277074.1	NP_001264003.1	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	77										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		AACCGGTTTGGCCTGGGGCAC	0.562													False	0	False	3:46966960	0	A	46966960	G	A	46966960	3	1	88	1	0	0	0	0	1	0	0	0	2775	1203	42	2	290	2	CCDC12	3	46966960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62149	46966960	151055470	3879	11591											
NBEAL2	23218	broad.mit.edu	37	chr3	47030423	47030423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggctgacctggagcaaGccctcctgctgctcaagctc	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47030423G>A	ENST00000450053.3	+	3	411	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A78T|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	78							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTGGAGCAAGCCCTCCTGCT	0.602													False	0	True	3:47030423	0	A	47030423	G	A	47030423	3	1	88	1	0	0	0	0	1	0	0	0	10256	971	34	2	242	2	NBEAL2	3	47030423	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63463	47030423	150992007	3880	11592											
NBEAL2	23218	broad.mit.edu	37	chr3	47040450	47040450	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaccctgcatccccaggCggtgggtgcgctggacctgc	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47040450C>T	ENST00000450053.3	+	24	3565	c.3386C>T	c.(3385-3387)gCg>gTg	p.A1129V	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1129							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CATCCCCAGGCGGTGGGTGCG	0.657											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	3:47040450	0	T	47040450	C	T	47040450	5	4	88	1	0	0	0	0	0	0	1	0	10256	782	27	1	3480	1	NBEAL2	3	47040450	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10027	47040450	150981980	3881	11593											
NBEAL2	23218	broad.mit.edu	37	chr3	47041693	47041693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtctagtgtaggatcaggCaacactgctggtggtggcgg	17	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47041693C>T	ENST00000450053.3	+	27	4283	c.4104C>T	c.(4102-4104)ggC>ggT	p.G1368G	NBEAL2_ENST00000292309.5_Silent_p.G1184G|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1368							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TAGGATCAGGCAACACTGCTG	0.637													False	0	False	3:47041693	0	T	47041693	C	T	47041693	2	4	88	1	0	0	0	0	0	0	0	1	10256	697	25	2		2	NBEAL2	3	47041693	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1243	47041693	150980737	3882	11594											
NBEAL2	23218	broad.mit.edu	37	chr3	47042768	47042768	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttccccactcacccgccaGcctcctggagatgatgctgg	10	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47042768G>T	ENST00000450053.3	+	29	4663		c.e29-1		NBEAL2_ENST00000292309.5_Splice_Site|NBEAL2_ENST00000383740.2_Splice_Site	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2								binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCACCCGCCAGCCTCCTGGAG	0.627													False	0	False	3:47042768	0	T	47042768	G	T	47042768	5	4	88	1	0	0	0	0	0	0	1	0	10256	985	34	3	4598	3	NBEAL2	3	47042768	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1075	47042768	150979662	3883	11595											
NBEAL2	23218	broad.mit.edu	37	chr3	47047546	47047546	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcttctattactgcacCtatgagggtgggcagtgcgc	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47047546C>A	ENST00000450053.3	+	43	7091	c.6912C>A	c.(6910-6912)acC>acA	p.T2304T	NBEAL2_ENST00000292309.5_Silent_p.T2120T|NBEAL2_ENST00000383740.2_Silent_p.T583T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2304	BEACH.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ATTACTGCACCTATGAGGGTG	0.612													False	0	False	3:47047546	0	A	47047546	C	A	47047546	2	1	88	1	0	0	0	0	0	0	0	1	10256	668	24	3		3	NBEAL2	3	47047546	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4778	47047546	150974884	3884	11596											
NBEAL2	23218	broad.mit.edu	37	chr3	47049628	47049628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatggggctgcagtgagCtgtgtggccatcagcactga	17	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47049628C>T	ENST00000450053.3	+	50	7850	c.7671C>T	c.(7669-7671)agC>agT	p.S2557S	NBEAL2_ENST00000292309.5_Silent_p.S2373S|NBEAL2_ENST00000383740.2_Silent_p.S806S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2557							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTGCAGTGAGCTGTGTGGCCA	0.587													False	0	True	3:47049628	0	T	47049628	C	T	47049628	2	4	88	1	0	0	0	0	0	0	0	1	10256	796	28	2		2	NBEAL2	3	47049628	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2082	47049628	150972802	3885	11597											
SETD2	29072	broad.mit.edu	37	chr3	47164118	47164118	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agatccatttatatttaattCtatgggacaaaaacttctta	4	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164118C>T	ENST00000409792.3	-	3	2050	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	670					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATATTTAATTCTATGGGACAA	0.323			"N, F, S, Mis"		clear cell renal carcinoma								False	0	False	3:47164118	0	T	47164118	C	T	47164118	3	4	88	1	0	0	0	0	1	0	0	0	14212	922	32	2	5762	2	SETD2	3	47164118	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114490	47164118	150858312	3886	11598											
SETD2	29072	broad.mit.edu	37	chr3	47164368	47164368	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtctgtaaactaaaagaAtgagactgtttgatttcttc	9	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164368A>C	ENST00000409792.3	-	3	1800	c.1758T>G	c.(1756-1758)caT>caG	p.H586Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AACTAAAAGAATGAGACTGTT	0.323			"N, F, S, Mis"		clear cell renal carcinoma								False	0	False	3:47164368	0	C	47164368	A	C	47164368	3	2	88	1	0	0	0	0	1	0	0	0	14212	98	4	4	6012	4	SETD2	3	47164368	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	250	47164368	150858062	3887	11599											
SETD2	29072	broad.mit.edu	37	chr3	47164397	47164397	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgatttcttcatttaattCtgtacaacagaaagaatttt	4	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164397C>A	ENST00000409792.3	-	3	1771	c.1729G>T	c.(1729-1731)Gaa>Taa	p.E577*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCATTTAATTCTGTACAACAG	0.299			"N, F, S, Mis"		clear cell renal carcinoma								False	0	False	3:47164397	0	A	47164397	C	A	47164397	4	1	88	1	0	0	0	0	0	1	0	0	14212	922	32	3	6041	3	SETD2	3	47164397	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	47164397	150858033	3888	11600											
KIF9	64147	broad.mit.edu	37	chr3	47284645	47284645	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgacatccccatctttggaGgatgggaccagctgggtctt	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47284645G>T	ENST00000335044.2	-	16	1962	c.1605C>A	c.(1603-1605)tcC>tcA	p.S535S	KIF9_ENST00000452770.2_Silent_p.S535S|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000265529.3_Silent_p.S535S|KIF9-AS1_ENST00000429315.3_RNA	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	535					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CATCTTTGGAGGATGGGACCA	0.552													False	0	False	3:47284645	0	T	47284645	G	T	47284645	2	4	88	1	0	0	0	0	0	0	0	1	8360	987	35	3		3	KIF9	3	47284645	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120248	47284645	150737785	3889	11601											
KIF9	64147	broad.mit.edu	37	chr3	47299019	47299019	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggctcagtggtgactagcTtcatcctgctggcaaatctc	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47299019T>G	ENST00000335044.2	-	10	1370	c.1013A>C	c.(1012-1014)aAg>aCg	p.K338T	KIF9_ENST00000452770.2_Missense_Mutation_p.K338T|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Missense_Mutation_p.K338T|KIF9_ENST00000352910.4_Missense_Mutation_p.K245T|KIF9_ENST00000265529.3_Missense_Mutation_p.K338T	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	338					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGTGACTAGCTTCATCCTGCT	0.507													False	0	False	3:47299019	0	G	47299019	T	G	47299019	3	3	88	1	0	0	0	0	1	0	0	0	8360	1609	56	4	1407	4	KIF9	3	47299019	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14374	47299019	150723411	3890	11602											
KLHL18	23276	broad.mit.edu	37	chr3	47371497	47371497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgagacaatgatgtgtgCtgtgctgtacgacgctgcca	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47371497C>T	ENST00000232766.5	+	4	478	c.458C>T	c.(457-459)gCt>gTt	p.A153V	KLHL18_ENST00000455924.2_Missense_Mutation_p.A41V	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	153	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ATGATGTGTGCTGTGCTGTAC	0.493													False	0	True	3:47371497	0	T	47371497	C	T	47371497	3	4	88	1	0	0	0	0	1	0	0	0	8423	797	28	2	472	2	KLHL18	3	47371497	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72478	47371497	150650933	3891	11603											
PTPN23	25930	broad.mit.edu	37	chr3	47437686	47437686	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcctacaatgaagaactgaaGaagctggagttgctcagaca	11	8	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47437686G>T	ENST00000265562.4	+	2	215	c.138G>T	c.(136-138)aaG>aaT	p.K46N	PTPN23_ENST00000431726.1_5'UTR	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	46	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGAACTGAAGAAGCTGGAGT	0.453													False	0	False	3:47437686	0	T	47437686	G	T	47437686	3	4	88	1	0	0	0	0	1	0	0	0	12867	933	33	3	144	3	PTPN23	3	47437686	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66189	47437686	150584744	3892	11604											
PTPN23	25930	broad.mit.edu	37	chr3	47449834	47449834	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccctgttgctccccacaGccagttcatggattcaatgc	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47449834G>T	ENST00000265562.4	+	15	1261		c.e15-1		PTPN23_ENST00000431726.1_Splice_Site	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23						cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCCCCACAGCCAGTTCATG	0.582													False	0	False	3:47449834	0	T	47449834	G	T	47449834	5	4	88	1	0	0	0	0	0	0	1	0	12867	985	34	3	1242	3	PTPN23	3	47449834	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12148	47449834	150572596	3893	11605											
PTPN23	25930	broad.mit.edu	37	chr3	47450720	47450720	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagatgcgggaccagcgCgtgtccctggagcagcagct	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47450720C>T	ENST00000265562.4	+	17	1787	c.1710C>T	c.(1708-1710)cgC>cgT	p.R570R	PTPN23_ENST00000431726.1_Silent_p.R444R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	570					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGACCAGCGCGTGTCCCTGG	0.587													False	0	False	3:47450720	0	T	47450720	C	T	47450720	2	4	88	1	0	0	0	0	0	0	0	1	12867	755	27	1		1	PTPN23	3	47450720	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	886	47450720	150571710	3894	11606											
PTPN23	25930	broad.mit.edu	37	chr3	47451949	47451949	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accaccacagtagatagcatCcaggcgcccatccccagcca	7	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47451949C>A	ENST00000265562.4	+	20	2738	c.2661C>A	c.(2659-2661)atC>atA	p.I887I	PTPN23_ENST00000431726.1_Silent_p.I761I	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	887	His.|Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAGATAGCATCCAGGCGCCCA	0.697													False	0	False	3:47451949	0	A	47451949	C	A	47451949	2	1	88	1	0	0	0	0	0	0	0	1	12867	845	30	3		3	PTPN23	3	47451949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1229	47451949	150570481	3895	11607											
PTPN23	25930	broad.mit.edu	37	chr3	47452754	47452754	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagggtcgtcggccgcagGccctgcggctgattgagcgg	18	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47452754G>T	ENST00000265562.4	+	20	3543	c.3466G>T	c.(3466-3468)Gcc>Tcc	p.A1156S	PTPN23_ENST00000431726.1_Missense_Mutation_p.A1030S	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1156					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCGGCCGCAGGCCCTGCGGCT	0.687													False	0	True	3:47452754	0	T	47452754	G	T	47452754	3	4	88	1	0	0	0	0	1	0	0	0	12867	1203	42	3	3544	3	PTPN23	3	47452754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	805	47452754	150569676	3896	11608											
PTPN23	25930	broad.mit.edu	37	chr3	47454450	47454450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcctaaggaggagccGccagtgcctgaagcccccag	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47454450G>A	ENST00000265562.4	+	25	4763	c.4686G>A	c.(4684-4686)ccG>ccA	p.P1562P	PTPN23_ENST00000431726.1_Silent_p.P1436P	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1562	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGAGGAGCCGCCAGTGCCTG	0.687													False	0	False	3:47454450	0	A	47454450	G	A	47454450	2	1	88	1	0	0	0	0	0	0	0	1	12867	1074	38	1		1	PTPN23	3	47454450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1696	47454450	150567980	3897	11609											
PTPN23	25930	broad.mit.edu	37	chr3	47454517	47454517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattgctggcctccttgaccCcagaggccttctccctggac	9	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47454517C>A	ENST00000265562.4	+	25	4830	c.4753C>A	c.(4753-4755)Cca>Aca	p.P1585T	PTPN23_ENST00000431726.1_Missense_Mutation_p.P1459T	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1585					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCTTGACCCCAGAGGCCTT	0.662													False	0	True	3:47454517	0	A	47454517	C	A	47454517	3	1	88	1	0	0	0	0	1	0	0	0	12867	623	22	3	4851	3	PTPN23	3	47454517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	47454517	150567913	3898	11610											
SCAP	22937	broad.mit.edu	37	chr3	47459949	47459949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttgcgcgggcatagcacGcggtagaggcagagcagcag	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47459949G>A	ENST00000265565.5	-	15	2605	c.2193C>T	c.(2191-2193)cgC>cgT	p.R731R	SCAP_ENST00000545718.1_Silent_p.R339R|SCAP_ENST00000441517.2_Silent_p.R476R	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	731	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGCATAGCACGCGGTAGAGGC	0.716													False	0	False	3:47459949	0	A	47459949	G	A	47459949	2	1	88	1	0	0	0	0	0	0	0	1	13957	1074	38	1		1	SCAP	3	47459949	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5432	47459949	150562481	3899	11611											
SCAP	22937	broad.mit.edu	37	chr3	47460252	47460252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggccaggcactgcggccGtcctgagggtgccggccctc	18	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47460252G>A	ENST00000265565.5	-	14	2434	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	SCAP_ENST00000545718.1_Silent_p.D282D|SCAP_ENST00000441517.2_Silent_p.D419D	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	674					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACTGCGGCCGTCCTGAGGGT	0.701													False	0	False	3:47460252	0	A	47460252	G	A	47460252	2	1	88	1	0	0	0	0	0	0	0	1	13957	1136	40	1		1	SCAP	3	47460252	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303	47460252	150562178	3900	11612											
SCAP	22937	broad.mit.edu	37	chr3	47460857	47460857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaatagctgaagagcgtcGgccagtggcggaaggacaat	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47460857G>A	ENST00000265565.5	-	13	2313	c.1901C>T	c.(1900-1902)cCg>cTg	p.P634L	SCAP_ENST00000545718.1_Missense_Mutation_p.P242L|SCAP_ENST00000441517.2_Missense_Mutation_p.P379L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	634					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAAGAGCGTCGGCCAGTGGCG	0.582													False	0	False	3:47460857	0	A	47460857	G	A	47460857	3	1	88	1	0	0	0	0	1	0	0	0	13957	1116	39	1	1982	1	SCAP	3	47460857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	605	47460857	150561573	3901	11613											
SCAP	22937	broad.mit.edu	37	chr3	47467101	47467101	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgaccatgtcgatcttcCctggagggcagagagggcgt	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47467101C>T	ENST00000265565.5	-	8	1323	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Splice_Site_p.R49Q	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	304	SSD.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GTCGATCTTCCCTGGAGGGCA	0.652													False	0	True	3:47467101	0	T	47467101	C	T	47467101	5	4	88	1	0	0	0	0	0	0	1	0	13957	637	22	2	2992	2	SCAP	3	47467101	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6244	47467101	150555329	3902	11614											
CSPG5	10675	broad.mit.edu	37	chr3	47618869	47618869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccacgaccctcaccatccAgtccttcgaagtagtcgatg	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47618869A>G	ENST00000383738.2	-	2	2745	c.647T>C	c.(646-648)cTg>cCg	p.L216P	CSPG5_ENST00000456150.1_Missense_Mutation_p.L78P|CSPG5_ENST00000264723.4_Missense_Mutation_p.L216P	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	216					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTCACCATCCAGTCCTTCGAA	0.587													False	0	False	3:47618869	0	G	47618869	A	G	47618869	3	3	88	1	0	0	0	0	1	0	0	0	3986	188	7	4	988	4	CSPG5	3	47618869	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	151768	47618869	150403561	3903	11615											
CSPG5	10675	broad.mit.edu	37	chr3	47619042	47619042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgggctcagcttgtcGccgggggtgggggagggtgg	23	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47619042G>A	ENST00000383738.2	-	2	2572	c.474C>T	c.(472-474)ggC>ggT	p.G158G	CSPG5_ENST00000456150.1_Silent_p.G20G|CSPG5_ENST00000264723.4_Silent_p.G158G	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	158					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCAGCTTGTCGCCGGGGGTGG	0.667													False	0	False	3:47619042	0	A	47619042	G	A	47619042	2	1	88	1	0	0	0	0	0	0	0	1	3986	1074	38	1		1	CSPG5	3	47619042	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173	47619042	150403388	3904	11616											
SMARCC1	6599	broad.mit.edu	37	chr3	47651741	47651741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttccatttgctgtcgtgctCgtaattcagcatacttcagc	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47651741C>T	ENST00000254480.5	-	26	2977	c.2858G>A	c.(2857-2859)cGa>cAa	p.R953Q	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	953					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTGTCGTGCTCGTAATTCAGC	0.537													False	0	False	3:47651741	0	T	47651741	C	T	47651741	3	4	88	1	0	0	0	0	1	0	0	0	14855	884	31	1	471	1	SMARCC1	3	47651741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32699	47651741	150370689	3905	11617											
SMARCC1	6599	broad.mit.edu	37	chr3	47742803	47742803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacttcttctatattgggtAcaggtgttgggtcttccata	9	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47742803A>G	ENST00000254480.5	-	11	1249	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	377					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TATATTGGGTACAGGTGTTGG	0.398													False	0	False	3:47742803	0	G	47742803	A	G	47742803	3	3	88	1	0	0	0	0	1	0	0	0	14855	391	14	4	2259	4	SMARCC1	3	47742803	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91062	47742803	150279627	3906	11618											
DHX30	22907	broad.mit.edu	37	chr3	47868868	47868868	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctattaaaagagttcccacaGcccaaaaatcttctcaacag	4	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47868868G>T	ENST00000446256.2	+	6	611	c.39G>T	c.(37-39)caG>caT	p.Q13H	DHX30_ENST00000348968.4_Missense_Mutation_p.Q24H|DHX30_ENST00000445061.1_Missense_Mutation_p.Q52H|DHX30_ENST00000457607.1_Missense_Mutation_p.Q80H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	52						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTTCCCACAGCCCAAAAATC	0.398													False	0	True	3:47868868	0	T	47868868	G	T	47868868	3	4	88	1	0	0	0	0	1	0	0	0	4534	962	34	3	177	3	DHX30	3	47868868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126065	47868868	150153562	3907	11619											
DHX30	22907	broad.mit.edu	37	chr3	47882405	47882405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccggaatgagttgtttgaCgcagccaaataccgagtgct	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47882405C>T	ENST00000446256.2	+	8	860	c.288C>T	c.(286-288)gaC>gaT	p.D96D	DHX30_ENST00000348968.4_Silent_p.D107D|DHX30_ENST00000445061.1_Silent_p.D135D|DHX30_ENST00000457607.1_Silent_p.D163D	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	135	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTTGTTTGACGCAGCCAAAT	0.582													False	0	False	3:47882405	0	T	47882405	C	T	47882405	2	4	88	1	0	0	0	0	0	0	0	1	4534	535	19	1		1	DHX30	3	47882405	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13537	47882405	150140025	3908	11620											
DHX30	22907	broad.mit.edu	37	chr3	47884644	47884644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaccaagctgtctacaCtcaccctgctctggccctgc	7	18	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47884644C>T	ENST00000446256.2	+	10	1293	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F	DHX30_ENST00000348968.4_Missense_Mutation_p.L252F|DHX30_ENST00000445061.1_Missense_Mutation_p.L280F|DHX30_ENST00000457607.1_Missense_Mutation_p.L308F	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	280						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCTGTCTACACTCACCCTGCT	0.532													False	0	False	3:47884644	0	T	47884644	C	T	47884644	3	4	88	1	0	0	0	0	1	0	0	0	4534	565	20	2	875	2	DHX30	3	47884644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2239	47884644	150137786	3909	11621											
DHX30	22907	broad.mit.edu	37	chr3	47887317	47887317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcccgagcccatcctccGcaagatagagaccttcctga	10	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47887317G>A	ENST00000446256.2	+	11	1522	c.950G>A	c.(949-951)cGc>cAc	p.R317H	DHX30_ENST00000348968.4_Missense_Mutation_p.R328H|DHX30_ENST00000445061.1_Missense_Mutation_p.R356H|DHX30_ENST00000457607.1_Missense_Mutation_p.R384H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	356						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCCATCCTCCGCAAGATAGAG	0.597													False	0	False	3:47887317	0	A	47887317	G	A	47887317	3	1	88	1	0	0	0	0	1	0	0	0	4534	1087	38	1	1108	1	DHX30	3	47887317	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2673	47887317	150135113	3910	11622											
DHX30	22907	broad.mit.edu	37	chr3	47891449	47891449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggctgctgaaggagctgCggcgggccctgggccgcatg	19	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47891449C>T	ENST00000446256.2	+	23	3879	c.3307C>T	c.(3307-3309)Cgg>Tgg	p.R1103W	DHX30_ENST00000348968.4_Missense_Mutation_p.R1114W|DHX30_ENST00000445061.1_Missense_Mutation_p.R1142W|DHX30_ENST00000457607.1_Missense_Mutation_p.R1170W	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1142						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAAGGAGCTGCGGCGGGCCCT	0.697											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	3:47891449	0	T	47891449	C	T	47891449	3	4	88	1	0	0	0	0	1	0	0	0	4534	759	27	1	3513	1	DHX30	3	47891449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4132	47891449	150130981	3911	11623											
DHX30	22907	broad.mit.edu	37	chr3	47891485	47891485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatggtggagcggagcctgCgcagcgagctggctgcactt	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47891485C>T	ENST00000446256.2	+	23	3915	c.3343C>T	c.(3343-3345)Cgc>Tgc	p.R1115C	DHX30_ENST00000348968.4_Missense_Mutation_p.R1126C|DHX30_ENST00000445061.1_Missense_Mutation_p.R1154C|DHX30_ENST00000457607.1_Missense_Mutation_p.R1182C	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1154						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCGGAGCCTGCGCAGCGAGCT	0.692											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	3:47891485	0	T	47891485	C	T	47891485	3	4	88	1	0	0	0	0	1	0	0	0	4534	768	27	1	3549	1	DHX30	3	47891485	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36	47891485	150130945	3912	11624											
MAP4	4134	broad.mit.edu	37	chr3	47912583	47912583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggaggtgctctttgggCgactcaagtcagctgcaaag	15	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47912583C>T	ENST00000426837.2	-	15	6101	c.6014G>A	c.(6013-6015)cGc>cAc	p.R2005H	MAP4_ENST00000383737.4_Missense_Mutation_p.R588H|MAP4_ENST00000395734.3_Missense_Mutation_p.R860H|MAP4_ENST00000420772.2_Missense_Mutation_p.R591H|MAP4_ENST00000360240.6_Missense_Mutation_p.R860H|MAP4_ENST00000441748.2_Missense_Mutation_p.R12H|MAP4_ENST00000264724.11_Missense_Mutation_p.R595H			P27816	MAP4_HUMAN	microtubule-associated protein 4	860					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GCTCTTTGGGCGACTCAAGTC	0.567													False	0	True	3:47912583	0	T	47912583	C	T	47912583	3	4	88	1	0	0	0	0	1	0	0	0	9325	768	27	1	1058	1	MAP4	3	47912583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21098	47912583	150109847	3913	11625											
CAMP	820	broad.mit.edu	37	chr3	48266102	48266102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctttccagctggtgaagCggtgtatggggacagtgacc	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48266102C>T	ENST00000296435.2	+	3	484	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	CAMP_ENST00000576243.1_Missense_Mutation_p.R107W	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	107					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTGGTGAAGCGGTGTATGGG	0.562													False	0	False	3:48266102	0	T	48266102	C	T	48266102	3	4	88	1	0	0	0	0	1	0	0	0	2630	759	27	1	329	1	CAMP	3	48266102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353519	48266102	149756328	3914	11626											
CAMP	820	broad.mit.edu	37	chr3	48266844	48266844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctaaagagaagattggcaAagagtttaaaagaattgtcc	9	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48266844A>G	ENST00000296435.2	+	4	608	c.452A>G	c.(451-453)aAa>aGa	p.K151R	CAMP_ENST00000576243.1_Missense_Mutation_p.K148R	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	148					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGATTGGCAAAGAGTTTAAA	0.468													False	0	True	3:48266844	0	G	48266844	A	G	48266844	3	3	88	1	0	0	0	0	1	0	0	0	2630	14	1	4	457	4	CAMP	3	48266844	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	742	48266844	149755586	3915	11627											
PLXNB1	5364	broad.mit.edu	37	chr3	48451722	48451722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgctctccagggacataaTcctggttttcccggagcaca	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48451722T>C	ENST00000358536.4	-	31	5857	c.5588A>G	c.(5587-5589)gAt>gGt	p.D1863G	PLXNB1_ENST00000456774.1_Missense_Mutation_p.D1680G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.D1863G|PLXNB1_ENST00000448774.2_Missense_Mutation_p.D474G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.D1680G	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1863					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGACATAATCCTGGTTTTC	0.632													False	0	False	3:48451722	0	C	48451722	T	C	48451722	3	2	88	1	0	0	0	0	1	0	0	0	12192	1435	50	4	851	4	PLXNB1	3	48451722	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	184878	48451722	149570708	3916	11628											
PLXNB1	5364	broad.mit.edu	37	chr3	48454198	48454198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggttagagagctgccccaGcccttgctccacagtgggcc	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48454198G>T	ENST00000358536.4	-	25	5076	c.4807C>A	c.(4807-4809)Ctg>Atg	p.L1603M	PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1420M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1603M|PLXNB1_ENST00000448774.2_Missense_Mutation_p.L214M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1420M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1603					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCTGCCCCAGCCCTTGCTCC	0.647													False	0	True	3:48454198	0	T	48454198	G	T	48454198	3	4	88	1	0	0	0	0	1	0	0	0	12192	962	34	3	1656	3	PLXNB1	3	48454198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2476	48454198	149568232	3917	11629											
PLXNB1	5364	broad.mit.edu	37	chr3	48463136	48463136	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actcatggctgccacttgcaGacagcccagctcaggctgga	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48463136G>T	ENST00000358536.4	-	7	1869	c.1600C>A	c.(1600-1602)Ctg>Atg	p.L534M	PLXNB1_ENST00000456774.1_Missense_Mutation_p.L534M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L534M|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L534M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	534					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCACTTGCAGACAGCCCAGC	0.632													False	0	False	3:48463136	0	T	48463136	G	T	48463136	3	4	88	1	0	0	0	0	1	0	0	0	12192	933	33	3	4935	3	PLXNB1	3	48463136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8938	48463136	149559294	3918	11630											
ATRIP	84126	broad.mit.edu	37	chr3	48495698	48495698	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtttcttttgccttccAgctccaatcattgcagtctg	7	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48495698A>C	ENST00000412052.1	+	4	735		c.e4-1		ATRIP_ENST00000320211.3_Splice_Site|ATRIP_ENST00000346691.4_Splice_Site|ATRIP_ENST00000357105.6_Splice_Site	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein						DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTGCCTTCCAGCTCCAATCA	0.393								Other conserved DNA damage response genes					False	0	False	3:48495698	0	C	48495698	A	C	48495698	5	2	88	1	0	0	0	0	0	0	1	0	1209	202	7	4	565	4	ATRIP	3	48495698	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32562	48495698	149526732	3919	11631											
ATRIP	84126	broad.mit.edu	37	chr3	48506304	48506304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggggacccccaaggacCgaccagcagaggcggacagt	16	13	0	1	rs3135938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48506304C>T	ENST00000412052.1	+	12	2313	c.1851C>T	c.(1849-1851)acC>acT	p.T617T	ATRIP_ENST00000320211.3_Silent_p.T710T|ATRIP_ENST00000346691.4_Silent_p.T683T|ATRIP_ENST00000357105.6_Silent_p.T583T	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	710					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCAAGGACCGACCAGCAGA	0.642								Other conserved DNA damage response genes					False	0	True	3:48506304	0	T	48506304	C	T	48506304	2	4	88	1	0	0	0	0	0	0	0	1	1209	639	23	1		1	ATRIP	3	48506304	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10606	48506304	149516126	3920	11632											
TREX1	11277	broad.mit.edu	37	chr3	48508597	48508597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagctacagcctaggcagCatctacactcgcctgtatgg	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48508597C>T	ENST00000296443.9	+	3	1430	c.543C>T	c.(541-543)agC>agT	p.S181S	TREX1_ENST00000436480.2_Silent_p.S181S|TREX1_ENST00000444177.1_Silent_p.S171S|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000433541.1_Silent_p.S42S|TREX1_ENST00000422277.2_Silent_p.S236S|TREX1_ENST00000456089.1_Silent_p.S42S			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	236					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCTAGGCAGCATCTACACTC	0.612													False	0	False	3:48508597	0	T	48508597	C	T	48508597	2	4	88	1	0	0	0	0	0	0	0	1	16559	709	25	2		2	TREX1	3	48508597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2293	48508597	149513833	3921	11633											
PFKFB4	5210	broad.mit.edu	37	chr3	48587583	48587583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccaatccagttcaggtatCgagtcagcttcttggagatg	10	10	3	1	rs147977517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48587583C>T	ENST00000232375.3	-	2	294	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	PFKFB4_ENST00000541519.1_Missense_Mutation_p.R27Q|PFKFB4_ENST00000416568.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000383734.2_Missense_Mutation_p.R61Q|PFKFB4_ENST00000545984.1_Missense_Mutation_p.R61Q|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R50Q|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	61	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTTCAGGTATCGAGTCAGCTT	0.562													False	0	False	3:48587583	0	T	48587583	C	T	48587583	3	4	88	1	0	0	0	0	1	0	0	0	11832	884	31	1	1279	1	PFKFB4	3	48587583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78986	48587583	149434847	3922	11634											
UCN2	90226	broad.mit.edu	37	chr3	48600466	48600466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggggagaattctgagggCggagctggaaggttgggata	19	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48600466C>T	ENST00000273610.3	-	2	174	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2	31					cAMP biosynthetic process|digestion|response to stress		hormone activity|hormone binding								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATTCTGAGGGCGGAGCTGGAA	0.637													False	0	True	3:48600466	0	T	48600466	C	T	48600466	3	4	88	1	0	0	0	0	1	0	0	0	17012	768	27	1	250	1	UCN2	3	48600466	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12883	48600466	149421964	3923	11635											
COL7A1	1294	broad.mit.edu	37	chr3	48611968	48611968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggctctccccggtctccttTgatgcctggcacaccctgaa	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48611968T>C	ENST00000328333.8	-	78	6516	c.6409A>G	c.(6409-6411)Aaa>Gaa	p.K2137E	COL7A1_ENST00000454817.1_Missense_Mutation_p.K2105E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2137	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGTCTCCTTTGATGCCTGGC	0.622													False	0	True	3:48611968	0	C	48611968	T	C	48611968	3	2	88	1	0	0	0	0	1	0	0	0	3727	1821	63	4	2589	4	COL7A1	3	48611968	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11502	48611968	149410462	3924	11636											
COL7A1	1294	broad.mit.edu	37	chr3	48612815	48612815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccacacccccagccctgCctgggagcccgggaatacca	9	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48612815C>T	ENST00000328333.8	-	73	6244	c.6137G>A	c.(6136-6138)gGc>gAc	p.G2046D	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2014D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2046	Triple-helical region.		G -> V (in DDEB).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCAGCCCTGCCTGGGAGCCC	0.721													False	0	True	3:48612815	0	T	48612815	C	T	48612815	3	4	88	1	0	0	0	0	1	0	0	0	3727	739	26	2	2881	2	COL7A1	3	48612815	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	847	48612815	149409615	3925	11637											
COL7A1	1294	broad.mit.edu	37	chr3	48619008	48619008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcccacattgattcacccGgtctccagggtctcccttgg	8	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48619008G>A	ENST00000328333.8	-	49	4887	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1594W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1594	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGATTCACCCGGTCTCCAGGG	0.587													False	0	True	3:48619008	0	A	48619008	G	A	48619008	3	1	88	1	0	0	0	0	1	0	0	0	3727	1115	39	1	4334	1	COL7A1	3	48619008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6193	48619008	149403422	3926	11638											
COL7A1	1294	broad.mit.edu	37	chr3	48621004	48621004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctgctcacccggagaCccaggttgtcctgggaggcc	12	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621004C>T	ENST00000328333.8	-	40	4493	c.4386G>A	c.(4384-4386)ggG>ggA	p.G1462G	COL7A1_ENST00000454817.1_Silent_p.G1462G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1462	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCCGGAGACCCAGGTTGTC	0.617													False	0	True	3:48621004	0	T	48621004	C	T	48621004	2	4	88	1	0	0	0	0	0	0	0	1	3727	494	18	2		2	COL7A1	3	48621004	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1996	48621004	149401426	3927	11639											
COL7A1	1294	broad.mit.edu	37	chr3	48621343	48621343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctcaccggcagcccaGgctccccaggagcaatgcca	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621343G>A	ENST00000328333.8	-	38	4375	c.4268C>T	c.(4267-4269)cCt>cTt	p.P1423L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1423L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1423	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGCAGCCCAGGCTCCCCAGG	0.642													False	0	False	3:48621343	0	A	48621343	G	A	48621343	3	1	88	1	0	0	0	0	1	0	0	0	3727	1000	35	2	4890	2	COL7A1	3	48621343	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339	48621343	149401087	3928	11640											
COL7A1	1294	broad.mit.edu	37	chr3	48621980	48621980	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctccgatgacttgtcCgggagccccctgtaaggaca	10	14	1	1	rs149361101		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621980C>A	ENST00000328333.8	-	35	4164	c.4057G>T	c.(4057-4059)Gga>Tga	p.G1353*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G1353*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1353	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGACTTGTCCGGGAGCCCCC	0.582													False	0	True	3:48621980	0	A	48621980	C	A	48621980	4	1	88	1	0	0	0	0	0	1	0	0	3727	661	23	3	5113	3	COL7A1	3	48621980	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	637	48621980	149400450	3929	11641											
COL7A1	1294	broad.mit.edu	37	chr3	48631916	48631916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctcgcggaaattgctgcGgccaatggatgaggagccat	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48631916G>A	ENST00000328333.8	-	2	258	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R51C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	51	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAATTGCTGCGGCCAATGGAT	0.602													False	0	False	3:48631916	0	A	48631916	G	A	48631916	3	1	88	1	0	0	0	0	1	0	0	0	3727	1116	39	1	9151	1	COL7A1	3	48631916	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9936	48631916	149390514	3930	11642											
SLC26A6	65010	broad.mit.edu	37	chr3	48670685	48670685	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcactgaaggtggctcaccCtgcggaagctgcatgatggc	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670685C>A	ENST00000358747.6	-	2	508	c.258G>T	c.(256-258)caG>caT	p.Q86H	SLC26A6_ENST00000383733.3_Splice_Site_p.Q107H|SLC26A6_ENST00000455886.2_Splice_Site_p.Q107H|SLC26A6_ENST00000395550.2_Splice_Site_p.Q107H|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000337000.8_Splice_Site_p.Q107H|SLC26A6_ENST00000420764.2_Splice_Site_p.Q107H	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GTGGCTCACCCTGCGGAAGCT	0.592													False	0	True	3:48670685	0	A	48670685	C	A	48670685	5	1	88	1	0	0	0	0	0	0	1	0	14601	695	24	3	2070	3	SLC26A6	3	48670685	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38769	48670685	149351745	3931	11643											
SLC26A6	65010	broad.mit.edu	37	chr3	48670820	48670820	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcataggcccgagcacgggaGcacctagggacatgatatga	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670820G>T	ENST00000358747.6	-	2	373	c.123C>A	c.(121-123)tgC>tgA	p.C41*	SLC26A6_ENST00000383733.3_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000455886.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000395550.2_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000337000.8_Nonsense_Mutation_p.C62*|SLC26A6_ENST00000420764.2_Nonsense_Mutation_p.C62*	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GAGCACGGGAGCACCTAGGGA	0.617													False	0	False	3:48670820	0	T	48670820	G	T	48670820	4	4	88	1	0	0	0	0	0	1	0	0	14601	963	34	3	2205	3	SLC26A6	3	48670820	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135	48670820	149351610	3932	11644											
CELSR3	1951	broad.mit.edu	37	chr3	48677614	48677614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgacccgaagcggccaGccatggcgccagggtagtcc	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48677614G>T	ENST00000544264.1	-	35	9699	c.9419C>A	c.(9418-9420)gCt>gAt	p.A3140D	CELSR3_ENST00000164024.4_Missense_Mutation_p.A3135D			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3135					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAAGCGGCCAGCCATGGCGCC	0.687													False	0	True	3:48677614	0	T	48677614	G	T	48677614	3	4	88	1	0	0	0	0	1	0	0	0	3246	971	34	3	542	3	CELSR3	3	48677614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6794	48677614	149344816	3933	11645											
CELSR3	1951	broad.mit.edu	37	chr3	48679431	48679431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacaggtcactgtcagagtCggagtctgcgcctggagttg	16	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48679431C>T	ENST00000544264.1	-	33	8972	c.8692G>A	c.(8692-8694)Gac>Aac	p.D2898N	CELSR3_ENST00000164024.4_Missense_Mutation_p.D2893N			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2893					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTCAGAGTCGGAGTCTGCG	0.562													False	0	False	3:48679431	0	T	48679431	C	T	48679431	3	4	88	1	0	0	0	0	1	0	0	0	3246	884	31	1	1277	1	CELSR3	3	48679431	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1817	48679431	149342999	3934	11646											
CELSR3	1951	broad.mit.edu	37	chr3	48682471	48682471	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcacagccctcacccaGcagcacagcagggacgcccc	12	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48682471G>T	ENST00000544264.1	-	26	8264	c.7984C>A	c.(7984-7986)Ctg>Atg	p.L2662M	CELSR3_ENST00000164024.4_Missense_Mutation_p.L2657M			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2657					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCTCACCCAGCAGCACAGCA	0.662													False	0	True	3:48682471	0	T	48682471	G	T	48682471	3	4	88	1	0	0	0	0	1	0	0	0	3246	962	34	3	2013	3	CELSR3	3	48682471	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3040	48682471	149339959	3935	11647											
CELSR3	1951	broad.mit.edu	37	chr3	48698039	48698039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attctccccatggtctgcatCgactgcctgaatgtggatga	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48698039C>T	ENST00000544264.1	-	1	2309	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N	CELSR3_ENST00000164024.4_Missense_Mutation_p.D677N			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	677	Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGTCTGCATCGACTGCCTGA	0.498													False	0	False	3:48698039	0	T	48698039	C	T	48698039	3	4	88	1	0	0	0	0	1	0	0	0	3246	884	31	1	8049	1	CELSR3	3	48698039	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15568	48698039	149324391	3936	11648											
CELSR3	1951	broad.mit.edu	37	chr3	48698703	48698703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcgccgtcagtggcacgCagctgcaggatagggtagcc	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48698703C>T	ENST00000544264.1	-	1	1645	c.1365G>A	c.(1363-1365)ctG>ctA	p.L455L	CELSR3_ENST00000164024.4_Silent_p.L455L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	455	Cadherin 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGTGGCACGCAGCTGCAGGA	0.677													False	0	False	3:48698703	0	T	48698703	C	T	48698703	2	4	88	1	0	0	0	0	0	0	0	1	3246	697	25	2		2	CELSR3	3	48698703	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	664	48698703	149323727	3937	11649											
CELSR3	1951	broad.mit.edu	37	chr3	48699383	48699383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagacagttccgccggggggCtgtcctttctgctccggatg	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48699383C>A	ENST00000544264.1	-	1	965	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	CELSR3_ENST00000164024.4_Missense_Mutation_p.A229S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	229					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCGGGGGGCTGTCCTTTCT	0.652													False	0	True	3:48699383	0	A	48699383	C	A	48699383	3	1	88	1	0	0	0	0	1	0	0	0	3246	797	28	3	9393	3	CELSR3	3	48699383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	680	48699383	149323047	3938	11650											
NCKIPSD	51517	broad.mit.edu	37	chr3	48717248	48717248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acataccatttggtaataggCcaccaaggccaggacagact	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48717248C>T	ENST00000294129.2	-	7	1455	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.A446T|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.A439T	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	446	Leu-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGTAATAGGCCACCAAGGCC	0.517													False	0	False	3:48717248	0	T	48717248	C	T	48717248	3	4	88	1	0	0	0	0	1	0	0	0	10293	739	26	2	860	2	NCKIPSD	3	48717248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17865	48717248	149305182	3939	11651											
NCKIPSD	51517	broad.mit.edu	37	chr3	48717612	48717612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaaagatcacctccagCctctgctggtcgtggcagac	10	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48717612C>T	ENST00000294129.2	-	6	1262	c.1143G>A	c.(1141-1143)agG>agA	p.R381R	NCKIPSD_ENST00000341520.4_Silent_p.R381R|NCKIPSD_ENST00000416649.2_Silent_p.R374R	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	381					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCACCTCCAGCCTCTGCTGGT	0.622													False	0	False	3:48717612	0	T	48717612	C	T	48717612	2	4	88	1	0	0	0	0	0	0	0	1	10293	738	26	2		2	NCKIPSD	3	48717612	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	364	48717612	149304818	3940	11652											
P4HTM	54681	broad.mit.edu	37	chr3	49042371	49042371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgttcgatatggtgaggGgggccactaccatgcccacg	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49042371G>A	ENST00000343546.4	+	6	1333	c.965G>A	c.(964-966)gGg>gAg	p.G322E	P4HTM_ENST00000383729.4_Missense_Mutation_p.G322E	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	322	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TATGGTGAGGGGGGCCACTAC	0.622													False	0	True	3:49042371	0	A	49042371	G	A	49042371	3	1	88	1	0	0	0	0	1	0	0	0	11428	1232	43	2	987	2	P4HTM	3	49042371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	324759	49042371	148980059	3941	11653											
P4HTM	54681	broad.mit.edu	37	chr3	49042591	49042591	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatggggccaggagatcaCtgggttatcccggttagtga	16	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49042591C>T	ENST00000343546.4	+	6	1553	c.1185C>T	c.(1183-1185)caC>caT	p.H395H	P4HTM_ENST00000383729.4_Intron	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	324	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CAGGAGATCACTGGGTTATCC	0.587													False	0	False	3:49042591	0	T	49042591	C	T	49042591	2	4	88	1	0	0	0	0	0	0	0	1	11428	564	20	2		2	P4HTM	3	49042591	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220	49042591	148979839	3942	11654											
WDR6	11180	broad.mit.edu	37	chr3	49049361	49049361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgagggaaatatagccttgGccctgggccacaactcagtg	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49049361G>T	ENST00000395474.3	+	2	764	c.484G>T	c.(484-486)Gcc>Tcc	p.A162S	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000608424.1_Missense_Mutation_p.A132S|WDR6_ENST00000448293.1_Missense_Mutation_p.A81S|WDR6_ENST00000489684.1_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	132					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TATAGCCTTGGCCCTGGGCCA	0.582													False	0	True	3:49049361	0	T	49049361	G	T	49049361	3	4	88	1	0	0	0	0	1	0	0	0	17394	1203	42	3	490	3	WDR6	3	49049361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6770	49049361	148973069	3943	11655											
WDR6	11180	broad.mit.edu	37	chr3	49051698	49051698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggccttggcccccttgtgGctgcagcctgtagtgatggg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49051698G>A	ENST00000395474.3	+	3	3008	c.2728G>A	c.(2728-2730)Gct>Act	p.A910T	WDR6_ENST00000415265.2_Missense_Mutation_p.A328T|WDR6_ENST00000608424.1_Missense_Mutation_p.A880T|WDR6_ENST00000448293.1_Missense_Mutation_p.A829T	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	880					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCCCCTTGTGGCTGCAGCCTG	0.587											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	3:49051698	0	A	49051698	G	A	49051698	3	1	88	1	0	0	0	0	1	0	0	0	17394	1203	42	2	2738	2	WDR6	3	49051698	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2337	49051698	148970732	3944	11656											
WDR6	11180	broad.mit.edu	37	chr3	49051889	49051889	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaccataagcgatgtgtcCtcaaggtccactcctttaca	6	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49051889C>A	ENST00000395474.3	+	4	3110	c.2830C>A	c.(2830-2832)Ctc>Atc	p.L944I	WDR6_ENST00000415265.2_Missense_Mutation_p.L362I|WDR6_ENST00000608424.1_Missense_Mutation_p.L914I|WDR6_ENST00000448293.1_Missense_Mutation_p.L863I	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	914					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCGATGTGTCCTCAAGGTCCA	0.602											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	3:49051889	0	A	49051889	C	A	49051889	3	1	88	1	0	0	0	0	1	0	0	0	17394	681	24	3	2844	3	WDR6	3	49051889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191	49051889	148970541	3945	11657											
NDUFAF3	25915	broad.mit.edu	37	chr3	49060138	49060138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctccctgcacaggtgGgatcccaccaggacatcacc	9	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49060138G>A	ENST00000326925.6	+	3	1408	c.274G>A	c.(274-276)Gga>Aga	p.G92R	NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G35R|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.G35R|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.G35R	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	92					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCACAGGTGGGATCCCACCA	0.562													False	0	True	3:49060138	0	A	49060138	G	A	49060138	3	1	88	1	0	0	0	0	1	0	0	0	10344	1233	43	2	284	2	NDUFAF3	3	49060138	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8249	49060138	148962292	3946	11658											
NDUFAF3	25915	broad.mit.edu	37	chr3	49060385	49060385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagccatgaggcagcggggCattgctgtggaagtgcagga	17	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49060385C>T	ENST00000326925.6	+	4	1548	c.414C>T	c.(412-414)ggC>ggT	p.G138G	NDUFAF3_ENST00000326912.4_Silent_p.G81G|NDUFAF3_ENST00000451378.2_Silent_p.G81G|NDUFAF3_ENST00000395458.2_Silent_p.G81G	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	138					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GGCAGCGGGGCATTGCTGTGG	0.637													False	0	True	3:49060385	0	T	49060385	C	T	49060385	2	4	88	1	0	0	0	0	0	0	0	1	10344	697	25	2		2	NDUFAF3	3	49060385	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	247	49060385	148962045	3947	11659											
IMPDH2	3615	broad.mit.edu	37	chr3	49062389	49062389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcgagagaacccataccgCgatatttctttagccggatc	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49062389C>T	ENST00000326739.4	-	11	1274	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	412	IMP binding (By similarity).				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	ACCCATACCGCGATATTTCTT	0.547													False	0	False	3:49062389	0	T	49062389	C	T	49062389	3	4	88	1	0	0	0	0	1	0	0	0	7777	768	27	1	325	1	IMPDH2	3	49062389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2004	49062389	148960041	3948	11660											
IMPDH2	3615	broad.mit.edu	37	chr3	49065268	49065268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataccgcagaaaccatgccGggccttggcctcaaaaacat	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49065268G>A	ENST00000326739.4	-	5	445	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	136	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	AAACCATGCCGGGCCTTGGCC	0.547													False	0	True	3:49065268	0	A	49065268	G	A	49065268	3	1	88	1	0	0	0	0	1	0	0	0	7777	1115	39	1	1178	1	IMPDH2	3	49065268	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2879	49065268	148957162	3949	11661											
QRICH1	54870	broad.mit.edu	37	chr3	49084009	49084009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaatcgcagcagttggCgccctgcaacggaagcctca	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49084009C>T	ENST00000395443.2	-	5	1992	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	QRICH1_ENST00000357496.2_Missense_Mutation_p.R507H|QRICH1_ENST00000424300.1_Missense_Mutation_p.R507H|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	507										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGCAGTTGGCGCCCTGCAAC	0.512													False	0	False	3:49084009	0	T	49084009	C	T	49084009	3	4	88	1	0	0	0	0	1	0	0	0	12958	768	27	1	834	1	QRICH1	3	49084009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18741	49084009	148938421	3950	11662											
QRICH1	54870	broad.mit.edu	37	chr3	49094859	49094859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggctgccctgagatggcGtaggacacagtgatgggcat	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49094859G>A	ENST00000395443.2	-	3	1246	c.774C>T	c.(772-774)taC>taT	p.Y258Y	QRICH1_ENST00000357496.2_Silent_p.Y258Y|QRICH1_ENST00000424300.1_Silent_p.Y258Y|QRICH1_ENST00000479449.1_Intron	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	258	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGAGATGGCGTAGGACACAG	0.612													False	0	False	3:49094859	0	A	49094859	G	A	49094859	2	1	88	1	0	0	0	0	0	0	0	1	12958	1140	40	1		1	QRICH1	3	49094859	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10850	49094859	148927571	3951	11663											
USP19	10869	broad.mit.edu	37	chr3	49147789	49147789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctgtcatcaaacaagCgccagcctacagcagggtgg	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49147789C>T	ENST00000453664.1	-	26	4148	c.3830G>A	c.(3829-3831)cGc>cAc	p.R1277H	USP19_ENST00000398892.3_Missense_Mutation_p.R1226H|USP19_ENST00000434032.2_Missense_Mutation_p.R1287H|USP19_ENST00000398898.2_Missense_Mutation_p.R1226H|USP19_ENST00000398896.1_Missense_Mutation_p.R994H|USP19_ENST00000417901.1_Missense_Mutation_p.R1289H|USP19_ENST00000398888.2_Missense_Mutation_p.R1186H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1186					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCAAACAAGCGCCAGCCTAC	0.577													False	0	False	3:49147789	0	T	49147789	C	T	49147789	3	4	88	1	0	0	0	0	1	0	0	0	17134	768	27	1	407	1	USP19	3	49147789	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52930	49147789	148874641	3952	11664											
USP19	10869	broad.mit.edu	37	chr3	49152269	49152269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgatgaaagagtcattcCtcatcttgtgccgctgccat	8	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49152269C>T	ENST00000453664.1	-	15	2501	c.2183G>A	c.(2182-2184)aGg>aAg	p.R728K	USP19_ENST00000434032.2_Missense_Mutation_p.R738K|USP19_ENST00000398898.2_Missense_Mutation_p.R677K|USP19_ENST00000398896.1_Missense_Mutation_p.R445K|USP19_ENST00000417901.1_Missense_Mutation_p.R740K|USP19_ENST00000398892.3_Missense_Mutation_p.R677K|USP19_ENST00000398888.2_Missense_Mutation_p.R637K	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	637					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGAGTCATTCCTCATCTTGTG	0.557													False	0	False	3:49152269	0	T	49152269	C	T	49152269	3	4	88	1	0	0	0	0	1	0	0	0	17134	681	24	2	2098	2	USP19	3	49152269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4480	49152269	148870161	3953	11665											
USP19	10869	broad.mit.edu	37	chr3	49153749	49153749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggaaggtggtgtggggcCcacagcccgggtgcagcctc	17	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49153749C>T	ENST00000453664.1	-	9	1607	c.1289G>A	c.(1288-1290)gGg>gAg	p.G430E	USP19_ENST00000434032.2_Missense_Mutation_p.G440E|USP19_ENST00000398898.2_Missense_Mutation_p.G377E|USP19_ENST00000398896.1_Missense_Mutation_p.G145E|USP19_ENST00000417901.1_Missense_Mutation_p.G440E|USP19_ENST00000398892.3_Missense_Mutation_p.G377E|USP19_ENST00000398888.2_Missense_Mutation_p.G339E	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	339					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGTGGGGCCCACAGCCCGG	0.627													False	0	True	3:49153749	0	T	49153749	C	T	49153749	3	4	88	1	0	0	0	0	1	0	0	0	17134	623	22	2	3016	2	USP19	3	49153749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1480	49153749	148868681	3954	11666											
USP19	10869	broad.mit.edu	37	chr3	49154234	49154234	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catctttcccagggtttctgCtccggaccatggctggagag	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49154234C>A	ENST00000453664.1	-	7	1340	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I	USP19_ENST00000434032.2_Missense_Mutation_p.S351I|USP19_ENST00000398898.2_Missense_Mutation_p.S288I|USP19_ENST00000398896.1_Missense_Mutation_p.S56I|USP19_ENST00000417901.1_Missense_Mutation_p.S351I|USP19_ENST00000398892.3_Missense_Mutation_p.S288I|USP19_ENST00000398888.2_Missense_Mutation_p.S250I	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	250	CS 2.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGGTTTCTGCTCCGGACCAT	0.587													False	0	False	3:49154234	0	A	49154234	C	A	49154234	3	1	88	1	0	0	0	0	1	0	0	0	17134	797	28	3	3291	3	USP19	3	49154234	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	485	49154234	148868196	3955	11667											
LAMB2	3913	broad.mit.edu	37	chr3	49159704	49159704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggactcgctctgcaatcGcacccgccaggtgctggatc	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49159704G>A	ENST00000418109.1	-	29	4837	c.4673C>T	c.(4672-4674)gCg>gTg	p.A1558V	LAMB2_ENST00000305544.4_Missense_Mutation_p.A1558V	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1558	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCTGCAATCGCACCCGCCAG	0.607													False	0	False	3:49159704	0	A	49159704	G	A	49159704	3	1	88	1	0	0	0	0	1	0	0	0	8662	1087	38	1	743	1	LAMB2	3	49159704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5470	49159704	148862726	3956	11668											
LAMB2	3913	broad.mit.edu	37	chr3	49162549	49162549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggacagggacagggcCggcactggcccccatatggc	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49162549C>T	ENST00000418109.1	-	21	2938	c.2774G>A	c.(2773-2775)cGg>cAg	p.R925Q	LAMB2_ENST00000305544.4_Missense_Mutation_p.R925Q|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	925	Laminin EGF-like 8.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGACAGGGCCGGCACTGGCC	0.607													False	0	False	3:49162549	0	T	49162549	C	T	49162549	3	4	88	1	0	0	0	0	1	0	0	0	8662	652	23	1	2674	1	LAMB2	3	49162549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2845	49162549	148859881	3957	11669											
LAMB2	3913	broad.mit.edu	37	chr3	49167044	49167044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccagtcgcaccaggcagCggtcacatccacgtccagtc	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49167044C>T	ENST00000418109.1	-	12	1675	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R504H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	504	Laminin EGF-like 4.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCAGGCAGCGGTCACATCC	0.572													False	0	False	3:49167044	0	T	49167044	C	T	49167044	3	4	88	1	0	0	0	0	1	0	0	0	8662	768	27	1	3973	1	LAMB2	3	49167044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4495	49167044	148855386	3958	11670											
LAMB2	3913	broad.mit.edu	37	chr3	49168875	49168875	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccagcacacgatagatgaCctggagaagcagggagttca	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49168875C>T	ENST00000418109.1	-	7	813	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	LAMB2_ENST00000305544.4_Splice_Site_p.V217I	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	217	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGATAGATGACCTGGAGAAGC	0.597													False	0	False	3:49168875	0	T	49168875	C	T	49168875	5	4	88	1	0	0	0	0	0	0	1	0	8662	521	18	2	4855	2	LAMB2	3	49168875	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1831	49168875	148853555	3959	11671											
LAMB2	3913	broad.mit.edu	37	chr3	49168980	49168980	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctcacctcgccttcagtGgatggctcaatctctgagta	9	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49168980G>T	ENST00000418109.1	-	6	800	c.636C>A	c.(634-636)tcC>tcA	p.S212S	LAMB2_ENST00000305544.4_Silent_p.S212S	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	212	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGCCTTCAGTGGATGGCTCAA	0.597													False	0	False	3:49168980	0	T	49168980	G	T	49168980	2	4	88	1	0	0	0	0	0	0	0	1	8662	1335	47	3		3	LAMB2	3	49168980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105	49168980	148853450	3960	11672											
CCDC36	339834	broad.mit.edu	37	chr3	49293689	49293689	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctgaatgtgcccagtgtCctagcagagctgaagagatt	12	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49293689C>T	ENST00000438782.1	+	8	995	c.759C>T	c.(757-759)gtC>gtT	p.V253V	CCDC36_ENST00000296449.5_Silent_p.V253V|CCDC36_ENST00000452691.2_Silent_p.V253V			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	253										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TGCCCAGTGTCCTAGCAGAGC	0.532													False	0	False	3:49293689	0	T	49293689	C	T	49293689	2	4	88	1	0	0	0	0	0	0	0	1	2829	842	30	2		2	CCDC36	3	49293689	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124709	49293689	148728741	3961	11673											
USP4	7375	broad.mit.edu	37	chr3	49332010	49332010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacattccgagccatccacGgaagtgctgcagacctcgta	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49332010G>A	ENST00000351842.4	-	13	1580	c.1572C>T	c.(1570-1572)tcC>tcT	p.S524S	USP4_ENST00000265560.4_Silent_p.S571S	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	571					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGCCATCCACGGAAGTGCTGC	0.537													False	0	False	3:49332010	0	A	49332010	G	A	49332010	2	1	88	1	0	0	0	0	0	0	0	1	17155	1103	39	1		1	USP4	3	49332010	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38321	49332010	148690420	3962	11674											
USP4	7375	broad.mit.edu	37	chr3	49338072	49338072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccatggaaagtatccacaAtcacagaatcattcctcaac	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49338072A>G	ENST00000351842.4	-	10	1207	c.1199T>C	c.(1198-1200)aTt>aCt	p.I400T	USP4_ENST00000265560.4_Missense_Mutation_p.I447T|USP4_ENST00000488520.1_5'UTR	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	447					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGTATCCACAATCACAGAATC	0.468													False	0	False	3:49338072	0	G	49338072	A	G	49338072	3	3	88	1	0	0	0	0	1	0	0	0	17155	101	4	4	1599	4	USP4	3	49338072	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6062	49338072	148684358	3963	11675											
USP4	7375	broad.mit.edu	37	chr3	49348051	49348051	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatggaagttctctcctctAcctgcaaagcggagttcatg	10	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49348051A>G	ENST00000351842.4	-	7	822		c.e7+1		USP4_ENST00000265560.4_Splice_Site|USP4_ENST00000488520.1_Splice_Site	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)						negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TCTCTCCTCTACCTGCAAAGC	0.507													False	0	False	3:49348051	0	G	49348051	A	G	49348051	5	3	88	1	0	0	0	0	0	0	1	0	17155	405	14	4	1995	4	USP4	3	49348051	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9979	49348051	148674379	3964	11676											
GPX1	2876	broad.mit.edu	37	chr3	49394894	49394894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggtctggaagcggcggCtgtacctgcgtaggggcaca	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49394894C>T	ENST00000419783.1	-	2	860	c.539G>A	c.(538-540)aGc>aAc	p.S180N	GPX1_ENST00000419349.1_3'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	180					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	GAAGCGGCGGCTGTACCTGCG	0.627													False	0	False	3:49394894	0	T	49394894	C	T	49394894	3	4	88	1	0	0	0	0	1	0	0	0	6786	797	28	2	76	2	GPX1	3	49394894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46843	49394894	148627536	3965	11677											
NICN1	84276	broad.mit.edu	37	chr3	49463818	49463818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtactgacggacacggatgCtcaaaaaagctgtgtagtaa	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49463818C>A	ENST00000273598.3	-	2	262	c.176G>T	c.(175-177)aGc>aTc	p.S59I	NICN1_ENST00000436744.2_Missense_Mutation_p.S59I|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	59						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACACGGATGCTCAAAAAAGC	0.517													False	0	False	3:49463818	0	A	49463818	C	A	49463818	3	1	88	1	0	0	0	0	1	0	0	0	10481	797	28	3	485	3	NICN1	3	49463818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68924	49463818	148558612	3966	11678											
DAG1	1605	broad.mit.edu	37	chr3	49569067	49569067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatccggactcgaggcGccattattcaaaccccaacc	6	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49569067G>A	ENST00000545947.1	+	6	1845	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	DAG1_ENST00000515359.2_Missense_Mutation_p.A375T|DAG1_ENST00000541308.1_Missense_Mutation_p.A375T|DAG1_ENST00000539901.1_Missense_Mutation_p.A375T|DAG1_ENST00000538711.1_Missense_Mutation_p.A375T|DAG1_ENST00000308775.2_Missense_Mutation_p.A375T	NM_001177634.2	NP_001171105	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	375	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GACTCGAGGCGCCATTATTCA	0.592													False	0	False	3:49569067	0	A	49569067	G	A	49569067	3	1	88	1	0	0	0	0	1	0	0	0	4250	1087	38	1	1129	1	DAG1	3	49569067	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105249	49569067	148453363	3967	11679											
BSN	8927	broad.mit.edu	37	chr3	49680099	49680099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccactgagcagacccaggaGggcctcactggtaagctctt	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49680099G>T	ENST00000296452.4	+	3	1146	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	344					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGACCCAGGAGGGCCTCACTG	0.672													False	0	True	3:49680099	0	T	49680099	G	T	49680099	3	4	88	1	0	0	0	0	1	0	0	0	1537	991	35	3	1042	3	BSN	3	49680099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111032	49680099	148342331	3968	11680											
BSN	8927	broad.mit.edu	37	chr3	49680444	49680444	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaagccaaagaccatgccGaaggaaagggccatctgccc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49680444G>A	ENST00000296452.4	+	3	1491	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	459					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGACCATGCCGAAGGAAAGGG	0.587													False	0	False	3:49680444	0	A	49680444	G	A	49680444	2	1	88	1	0	0	0	0	0	0	0	1	1537	1045	37	1		1	BSN	3	49680444	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	345	49680444	148341986	3969	11681											
BSN	8927	broad.mit.edu	37	chr3	49690192	49690192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggagcagcagcgcatccGcagcacggcccgcaagaccc	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49690192G>A	ENST00000296452.4	+	5	3317	c.3203G>A	c.(3202-3204)cGc>cAc	p.R1068H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1068					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGCGCATCCGCAGCACGGCC	0.647													False	0	False	3:49690192	0	A	49690192	G	A	49690192	3	1	88	1	0	0	0	0	1	0	0	0	1537	1087	38	1	3221	1	BSN	3	49690192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9748	49690192	148332238	3970	11682											
BSN	8927	broad.mit.edu	37	chr3	49690580	49690580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgcgcaaagctgagctGctccagaggcagcaaggcca	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49690580G>A	ENST00000296452.4	+	5	3705	c.3591G>A	c.(3589-3591)ctG>ctA	p.L1197L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1197					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGCTGAGCTGCTCCAGAGGC	0.672													False	0	True	3:49690580	0	A	49690580	G	A	49690580	2	1	88	1	0	0	0	0	0	0	0	1	1537	1306	46	2		2	BSN	3	49690580	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	388	49690580	148331850	3971	11683											
BSN	8927	broad.mit.edu	37	chr3	49692063	49692063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctcacctctcttgctgtgGaagcgaggaagtatggtctt	11	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49692063G>A	ENST00000296452.4	+	5	5188	c.5074G>A	c.(5074-5076)Gaa>Aaa	p.E1692K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1692					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTTGCTGTGGAAGCGAGGAA	0.587													False	0	False	3:49692063	0	A	49692063	G	A	49692063	3	1	88	1	0	0	0	0	1	0	0	0	1537	1175	41	2	5092	2	BSN	3	49692063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1483	49692063	148330367	3972	11684											
BSN	8927	broad.mit.edu	37	chr3	49693296	49693296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaatcagtcgcatgtgcGctgccctcaactccatggac	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49693296G>A	ENST00000296452.4	+	5	6421	c.6307G>A	c.(6307-6309)Gct>Act	p.A2103T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2103					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCGCATGTGCGCTGCCCTCAA	0.652													False	0	False	3:49693296	0	A	49693296	G	A	49693296	3	1	88	1	0	0	0	0	1	0	0	0	1537	1087	38	1	6325	1	BSN	3	49693296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1233	49693296	148329134	3973	11685											
APEH	327	broad.mit.edu	37	chr3	49714060	49714060	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggcattttgggcccctggaGatgctggtgtggtgtttgtg	17	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49714060G>A	ENST00000296456.5	+	8	1163	c.763G>A	c.(763-765)Gat>Aat	p.D255N	APEH_ENST00000438011.1_Missense_Mutation_p.D255N	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	255					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCCCCTGGAGATGCTGGTGT	0.607													False	0	False	3:49714060	0	A	49714060	G	A	49714060	3	1	88	1	0	0	0	0	1	0	0	0	770	942	33	2	793	2	APEH	3	49714060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20764	49714060	148308370	3974	11686											
MST1	4485	broad.mit.edu	37	chr3	49723901	49723901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgtggcctcttggcggggCtgtgcctcggacccttagat	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49723901C>A	ENST00000449682.2	-	8	1222	c.861G>T	c.(859-861)caG>caT	p.Q287H	MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.Q212H	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	273	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTTGGCGGGGCTGTGCCTCGG	0.652													False	0	True	3:49723901	0	A	49723901	C	A	49723901	3	1	88	1	0	0	0	0	1	0	0	0	9957	796	28	3	1360	3	MST1	3	49723901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9841	49723901	148298529	3975	11687											
MST1	4485	broad.mit.edu	37	chr3	49725205	49725205	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagtccattaagggcccacAgcgaccagcacactcttcag	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49725205A>C	ENST00000449682.2	-	2	581	c.220T>G	c.(220-222)Tgt>Ggt	p.C74G	MST1_ENST00000545762.1_Missense_Mutation_p.C60G|MST1_ENST00000383728.3_Intron|MST1_ENST00000494828.2_Intron	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	60	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGGGCCCACAGCGACCAGCA	0.627													False	0	False	3:49725205	0	C	49725205	A	C	49725205	3	2	88	1	0	0	0	0	1	0	0	0	9957	188	7	4	2025	4	MST1	3	49725205	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1304	49725205	148297225	3976	11688											
RNF123	63891	broad.mit.edu	37	chr3	49735349	49735349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaactttggcaccatccGctctaccacatgcgtgtaca	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49735349G>A	ENST00000327697.6	+	6	518	c.374G>A	c.(373-375)cGc>cAc	p.R125H	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	125	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGCACCATCCGCTCTACCACA	0.552													False	0	False	3:49735349	0	A	49735349	G	A	49735349	3	1	88	1	0	0	0	0	1	0	0	0	13512	1087	38	1	392	1	RNF123	3	49735349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10144	49735349	148287081	3977	11689											
RNF123	63891	broad.mit.edu	37	chr3	49735557	49735557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgcaccatcagctgccGcttcaaccaggaggtacacg	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49735557G>A	ENST00000327697.6	+	7	614	c.470G>A	c.(469-471)cGc>cAc	p.R157H	RNF123_ENST00000432042.1_Missense_Mutation_p.R11H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	157	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ATCAGCTGCCGCTTCAACCAG	0.617													False	0	False	3:49735557	0	A	49735557	G	A	49735557	3	1	88	1	0	0	0	0	1	0	0	0	13512	1087	38	1	492	1	RNF123	3	49735557	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	208	49735557	148286873	3978	11690											
RNF123	63891	broad.mit.edu	37	chr3	49740132	49740132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggctgatctctgccctgCgctactattgggatgaatac	10	12	1	2	rs146532174		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49740132C>T	ENST00000327697.6	+	20	1840	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	RNF123_ENST00000432042.1_Missense_Mutation_p.R420C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	566						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTCTGCCCTGCGCTACTATTG	0.562													False	0	False	3:49740132	0	T	49740132	C	T	49740132	3	4	88	1	0	0	0	0	1	0	0	0	13512	768	27	1	1770	1	RNF123	3	49740132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4575	49740132	148282298	3979	11691											
RNF123	63891	broad.mit.edu	37	chr3	49742976	49742976	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactccccagttgaaggcaGccactggaatgagggcttgc	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49742976G>T	ENST00000327697.6	+	24	2312	c.2168G>T	c.(2167-2169)aGc>aTc	p.S723I	RNF123_ENST00000432042.1_Missense_Mutation_p.S577I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	723						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTTGAAGGCAGCCACTGGAAT	0.642													False	0	False	3:49742976	0	T	49742976	G	T	49742976	3	4	88	1	0	0	0	0	1	0	0	0	13512	971	34	3	2258	3	RNF123	3	49742976	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2844	49742976	148279454	3980	11692											
RNF123	63891	broad.mit.edu	37	chr3	49749963	49749963	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcgtctgcctgcggaccattGagcacggtgatcgcacaggg	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49749963G>A	ENST00000327697.6	+	27	2692	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	RNF123_ENST00000432042.1_Missense_Mutation_p.E704K	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	850						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCGGACCATTGAGCACGGTGA	0.582													False	0	False	3:49749963	0	A	49749963	G	A	49749963	3	1	88	1	0	0	0	0	1	0	0	0	13512	1291	45	2	2650	2	RNF123	3	49749963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6987	49749963	148272467	3981	11693											
RNF123	63891	broad.mit.edu	37	chr3	49753080	49753080	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtcctgatgtggcacccaGcttcctcaacagcgtcctca	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753080G>T	ENST00000327697.6	+	32	3227	c.3083G>T	c.(3082-3084)aGc>aTc	p.S1028I	RNF123_ENST00000433785.1_Missense_Mutation_p.S140I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1028						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTGGCACCCAGCTTCCTCAAC	0.612													False	0	False	3:49753080	0	T	49753080	G	T	49753080	3	4	88	1	0	0	0	0	1	0	0	0	13512	971	34	3	3205	3	RNF123	3	49753080	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3117	49753080	148269350	3982	11694											
RNF123	63891	broad.mit.edu	37	chr3	49753586	49753586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgagaggaacctgtttgatCgtgtggtcaccctacggctg	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753586C>T	ENST00000327697.6	+	34	3535	c.3391C>T	c.(3391-3393)Cgt>Tgt	p.R1131C	RNF123_ENST00000433785.1_Missense_Mutation_p.R243C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1131						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCTGTTTGATCGTGTGGTCAC	0.582													False	0	False	3:49753586	0	T	49753586	C	T	49753586	3	4	88	1	0	0	0	0	1	0	0	0	13512	884	31	1	3521	1	RNF123	3	49753586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	506	49753586	148268844	3983	11695											
RNF123	63891	broad.mit.edu	37	chr3	49753836	49753836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcccctcaggcctagagagCgtggaccactatcccattct	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753836C>T	ENST00000327697.6	+	35	3570	c.3426C>T	c.(3424-3426)agC>agT	p.S1142S	RNF123_ENST00000433785.1_Silent_p.S254S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1142						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCTAGAGAGCGTGGACCACT	0.632													False	0	True	3:49753836	0	T	49753836	C	T	49753836	2	4	88	1	0	0	0	0	0	0	0	1	13512	767	27	1		1	RNF123	3	49753836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250	49753836	148268594	3984	11696											
AMIGO3	386724	broad.mit.edu	37	chr3	49757969	49757969	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaagccacatcagtgctcCtggcagatccctgcttccag	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49757969C>A	ENST00000535833.1	-	0	2380				RNF123_ENST00000433785.1_Missense_Mutation_p.L288M|RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000308375.6_3'UTR|RNF123_ENST00000327697.6_Missense_Mutation_p.L1176M|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3						heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATCAGTGCTCCTGGCAGATCC	0.597													False	0	False	3:49757969	0	A	49757969	C	A	49757969	1	1	88	1	0	0	0	0	0	0	0	0	577	680	24	3		3	AMIGO3	3	49757969	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4133	49757969	148264461	3985	11697											
GMPPB	29925	broad.mit.edu	37	chr3	49759356	49759356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcagggaggcaggcacaCtccccgcccctctccccacc	9	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49759356C>T	ENST00000308375.6	-	8	1217	c.993G>A	c.(991-993)gaG>gaA	p.E331E	AMIGO3_ENST00000535833.1_Intron|GMPPB_ENST00000308388.6_Intron|GMPPB_ENST00000480687.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	317					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAGGCACACTCCCCGCCCC	0.617													False	0	False	3:49759356	0	T	49759356	C	T	49759356	2	4	88	1	0	0	0	0	0	0	0	1	6540	564	20	2		2	GMPPB	3	49759356	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1387	49759356	148263074	3986	11698											
IP6K1	9807	broad.mit.edu	37	chr3	49764895	49764895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggaactggagtagaagCggtaagaggcctgccgctcc	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49764895C>T	ENST00000321599.4	-	6	1287	c.986G>A	c.(985-987)cGc>cAc	p.R329H	IP6K1_ENST00000395238.1_Missense_Mutation_p.R164H|IP6K1_ENST00000460540.1_Missense_Mutation_p.R164H|IP6K1_ENST00000468463.1_3'UTR	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	329					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GGAGTAGAAGCGGTAAGAGGC	0.592													False	0	False	3:49764895	0	T	49764895	C	T	49764895	3	4	88	1	0	0	0	0	1	0	0	0	7838	768	27	1	343	1	IP6K1	3	49764895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5539	49764895	148257535	3987	11699											
UBA7	7318	broad.mit.edu	37	chr3	49845353	49845353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggataatctggcccacaattCgcttgctctgccaaggacaa	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49845353C>T	ENST00000333486.3	-	21	2689	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	844					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCCACAATTCGCTTGCTCTG	0.612													False	0	False	3:49845353	0	T	49845353	C	T	49845353	3	4	88	1	0	0	0	0	1	0	0	0	16917	884	31	1	523	1	UBA7	3	49845353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80458	49845353	148177077	3988	11700											
UBA7	7318	broad.mit.edu	37	chr3	49847012	49847012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcagcagctgtttgatgCcataatgaaagcagagtttc	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49847012C>A	ENST00000333486.3	-	16	2209	c.2051G>T	c.(2050-2052)gGc>gTc	p.G684V		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	684					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGTTTGATGCCATAATGAAA	0.567													False	0	False	3:49847012	0	A	49847012	C	A	49847012	3	1	88	1	0	0	0	0	1	0	0	0	16917	739	26	3	1023	3	UBA7	3	49847012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1659	49847012	148175418	3989	11701											
UBA7	7318	broad.mit.edu	37	chr3	49847305	49847305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagttcttcaaactcatgcCgggcccactgtggaggaggg	14	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49847305C>T	ENST00000333486.3	-	15	2005	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	616					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAACTCATGCCGGGCCCACTG	0.582													False	0	True	3:49847305	0	T	49847305	C	T	49847305	3	4	88	1	0	0	0	0	1	0	0	0	16917	652	23	1	1231	1	UBA7	3	49847305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	293	49847305	148175125	3990	11702											
UBA7	7318	broad.mit.edu	37	chr3	49850508	49850508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcaccccacgaggccccGggtgtcagccgccagaaagc	11	17	2	1	rs148849452	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49850508G>A	ENST00000333486.3	-	4	612	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	152	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACGAGGCCCCGGGTGTCAGCC	0.602													False	0	True	3:49850508	0	A	49850508	G	A	49850508	3	1	88	1	0	0	0	0	1	0	0	0	16917	1115	39	1	2668	1	UBA7	3	49850508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3203	49850508	148171922	3991	11703											
TRAIP	10293	broad.mit.edu	37	chr3	49885589	49885589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcacctggattcggcacTgtgggcaggtccgacttggt	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49885589T>C	ENST00000331456.2	-	2	256	c.143A>G	c.(142-144)cAg>cGg	p.Q48R	TRAIP_ENST00000469027.1_Missense_Mutation_p.Q48R|TRAIP_ENST00000473863.1_5'UTR	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	48					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATTCGGCACTGTGGGCAGGT	0.488													False	0	False	3:49885589	0	C	49885589	T	C	49885589	3	2	88	1	0	0	0	0	1	0	0	0	16531	1580	55	4	1322	4	TRAIP	3	49885589	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35081	49885589	148136841	3992	11704											
MST1R	4486	broad.mit.edu	37	chr3	49924980	49924980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtctgcctcccagcattgCtgcatcacttggtacctgtt	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49924980C>T	ENST00000296474.3	-	20	3990	c.3963G>A	c.(3961-3963)caG>caA	p.Q1321Q	MST1R_ENST00000344206.4_Silent_p.Q1272Q	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1321	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCCAGCATTGCTGCATCACTT	0.557													False	0	False	3:49924980	0	T	49924980	C	T	49924980	2	4	88	1	0	0	0	0	0	0	0	1	9958	796	28	2		2	MST1R	3	49924980	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39391	49924980	148097450	3993	11705											
MST1R	4486	broad.mit.edu	37	chr3	49929221	49929221	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgatggcacattggattcGattctgggcctggtctatgt	12	8	2	1	rs150876558	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49929221G>A	ENST00000296474.3	-	15	3349	c.3322C>T	c.(3322-3324)Cga>Tga	p.R1108*	MST1R_ENST00000344206.4_Nonsense_Mutation_p.R1059*	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1108	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CATTGGATTCGATTCTGGGCC	0.532													False	0	True	3:49929221	0	A	49929221	G	A	49929221	4	1	88	1	0	0	0	0	0	1	0	0	9958	1066	37	1	904	1	MST1R	3	49929221	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4241	49929221	148093209	3994	11706											
MST1R	4486	broad.mit.edu	37	chr3	49934771	49934771	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccggctggtgcctacagacaGactctggccttcaagagtga	12	12	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49934771G>A	ENST00000296474.3	-	7	2152	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	MST1R_ENST00000344206.4_Silent_p.L709L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	709	IPT/TIG 2.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTACAGACAGACTCTGGCCT	0.592													False	0	True	3:49934771	0	A	49934771	G	A	49934771	2	1	88	1	0	0	0	0	0	0	0	1	9958	933	33	2		2	MST1R	3	49934771	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5550	49934771	148087659	3995	11707											
MST1R	4486	broad.mit.edu	37	chr3	49940299	49940299	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggaagctgtgcacgtaTtcaatactgtaggagacaag	13	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49940299T>C	ENST00000296474.3	-	1	771	c.744A>G	c.(742-744)gaA>gaG	p.E248E	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.E248E	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	248	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTGCACGTATTCAATACTGT	0.572													False	0	False	3:49940299	0	C	49940299	T	C	49940299	2	2	88	1	0	0	0	0	0	0	0	1	9958	1490	52	4		4	MST1R	3	49940299	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5528	49940299	148082131	3996	11708											
MST1R	4486	broad.mit.edu	37	chr3	49940700	49940700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttgtgtctgtgtcaccggGagggccgtggggtcctgggc	18	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49940700G>A	ENST00000296474.3	-	1	370	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.P115S	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	115	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTGTCACCGGGAGGGCCGTGG	0.677													False	0	True	3:49940700	0	A	49940700	G	A	49940700	3	1	88	1	0	0	0	0	1	0	0	0	9958	1174	41	2	3939	2	MST1R	3	49940700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	401	49940700	148081730	3997	11709											
MON1A	84315	broad.mit.edu	37	chr3	49949310	49949310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcctggctgatctggcGcatgtctgtaggcagcggcg	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49949310G>A	ENST00000417270.1	-	4	979	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	MON1A_ENST00000455683.2_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.R185C|MON1A_ENST00000483022.1_5'UTR|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	88							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTGATCTGGCGCATGTCTGTA	0.632													False	0	False	3:49949310	0	A	49949310	G	A	49949310	3	1	88	1	0	0	0	0	1	0	0	0	9765	1087	38	1	1421	1	MON1A	3	49949310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8610	49949310	148073120	3998	11710											
SEMA3F	6405	broad.mit.edu	37	chr3	50222947	50222947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaggagctcatgctggagGaggtggaggtcttcaaggtg	19	5	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50222947G>A	ENST00000002829.3	+	14	2012	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	SEMA3F_ENST00000413852.1_Missense_Mutation_p.E411K|SEMA3F_ENST00000434342.1_Missense_Mutation_p.E479K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	510	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CATGCTGGAGGAGGTGGAGGT	0.627													False	0	True	3:50222947	0	A	50222947	G	A	50222947	3	1	88	1	0	0	0	0	1	0	0	0	14110	1175	41	2	1578	2	SEMA3F	3	50222947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273637	50222947	147799483	3999	11711											
GNAT1	2779	broad.mit.edu	37	chr3	50230697	50230697	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctctcctcggcctcaGgattatccaccaggacgggt	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50230697G>T	ENST00000232461.3	+	3	263		c.e3-1		GNAT1_ENST00000433068.1_Splice_Site	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1						detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTCGGCCTCAGGATTATCCAC	0.612											OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	3:50230697	0	T	50230697	G	T	50230697	5	4	88	1	0	0	0	0	0	0	1	0	6556	1014	35	3	159	3	GNAT1	3	50230697	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7750	50230697	147791733	4000	11712											
SLC38A3	10991	broad.mit.edu	37	chr3	50255260	50255260	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactcccagctacttcacGctcaactcacaggttctgac	6	16	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50255260G>A	ENST00000420502.1	+	0	996							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	GCTACTTCACGCTCAACTCAC	0.592													False	0	False	3:50255260	0	A	50255260	G	A	50255260	1	1	88	0	1	0	0	0	0	0	0	0	14685	1074	38	1		1	SLC38A3	3	50255260	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24563	50255260	147767170	4001	11713											
GNAI2	2771	broad.mit.edu	37	chr3	50290492	50290492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttgcactgtcctgcaccGccgaggagcaaggcgtgctc	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50290492G>A	ENST00000313601.6	+	4	724	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000536647.1_Missense_Mutation_p.A33T|GNAI2_ENST00000422163.1_Missense_Mutation_p.A98T|GNAI2_ENST00000451956.1_Missense_Mutation_p.A77T|GNAI2_ENST00000440628.1_Missense_Mutation_p.A62T|GNAI2_ENST00000266027.5_Missense_Mutation_p.A98T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	114					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.A114T(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GTCCTGCACCGCCGAGGAGCA	0.637													False	0	False	3:50290492	0	A	50290492	G	A	50290492	3	1	88	1	0	0	0	0	1	0	0	0	6550	1087	38	1	365	1	GNAI2	3	50290492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35232	50290492	147731938	4002	11714											
SEMA3B	7869	broad.mit.edu	37	chr3	50313010	50313010	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggttccggcggcaagacGtaaggaatggcgaccccagc	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50313010G>A	ENST00000418948.1	+	0	1903							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCGGCAAGACGTAAGGAATGG	0.662													False	0	False	3:50313010	0	A	50313010	G	A	50313010	1	1	88	0	1	0	0	0	0	0	0	0	14106	1145	40	1		1	SEMA3B	3	50313010	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22518	50313010	147709420	4003	11715											
HYAL1	3373	broad.mit.edu	37	chr3	50337931	50337931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcaccacatgctcttccGctcacaccacggtgcctgcc	6	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50337931G>A	ENST00000266031.4	-	3	1906	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W|HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W|HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	431						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	ATGCTCTTCCGCTCACACCAC	0.552													False	0	False	3:50337931	0	A	50337931	G	A	50337931	3	1	88	1	0	0	0	0	1	0	0	0	7513	1086	38	1	20	1	HYAL1	3	50337931	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24921	50337931	147684499	4004	11716											
HYAL1	3373	broad.mit.edu	37	chr3	50339672	50339672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggatagagggcacggCtctggccccacagccaccct	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50339672C>A	ENST00000266031.4	-	1	1331	c.716G>T	c.(715-717)aGc>aTc	p.S239I	HYAL1_ENST00000395144.2_Missense_Mutation_p.S239I|HYAL1_ENST00000457214.2_Missense_Mutation_p.S57I|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395143.2_Missense_Mutation_p.S239I|HYAL1_ENST00000320295.8_Missense_Mutation_p.S239I			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	239						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GAGGGCACGGCTCTGGCCCCA	0.587													False	0	False	3:50339672	0	A	50339672	C	A	50339672	3	1	88	1	0	0	0	0	1	0	0	0	7513	797	28	3	603	3	HYAL1	3	50339672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1741	50339672	147682758	4005	11717											
HYAL2	8692	broad.mit.edu	37	chr3	50357048	50357048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtgggtcgtgtgaagacGtagactgggagtgcatggtt	18	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50357048G>A	ENST00000447092.1	-	1	3165	c.873C>T	c.(871-873)taC>taT	p.Y291Y	HYAL2_ENST00000357750.4_Silent_p.Y291Y|HYAL2_ENST00000442581.1_Silent_p.Y291Y|HYAL2_ENST00000395139.3_Silent_p.Y291Y			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	291						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	GTGTGAAGACGTAGACTGGGA	0.592													False	0	False	3:50357048	0	A	50357048	G	A	50357048	2	1	88	1	0	0	0	0	0	0	0	1	7514	1140	40	1		1	HYAL2	3	50357048	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17376	50357048	147665382	4006	11718											
ZMYND10	51364	broad.mit.edu	37	chr3	50379568	50379568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgtctgtgaggaaggcccGaagctgcaagggtgtccagt	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50379568G>A	ENST00000231749.3	-	9	2149	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	ZMYND10_ENST00000490675.1_Intron|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R288W	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	293						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGGAAGGCCCGAAGCTGCAAG	0.612										TSP Lung(30;0.18)			False	0	True	3:50379568	0	A	50379568	G	A	50379568	3	1	88	1	0	0	0	0	1	0	0	0	17788	1057	37	1	461	1	ZMYND10	3	50379568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22520	50379568	147642862	4007	11719											
NPRL2	10641	broad.mit.edu	37	chr3	50385985	50385985	+	Silent	SNP	G	G	A													atggacaccagtgtcacaacGccgtagtacctgagagagag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50385985G>A	ENST00000232501.3	-	7	1131	c.693C>T	c.(691-693)ggC>ggT	p.G231G	NPRL2_ENST00000493465.1_5'UTR	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	231					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTGTCACAACGCCGTAGTACC	0.582													False	0	False	3:50385985	0	A	50385985	G	A	50385985	2	1	88	1	0	0	0	0	0	0	0	1	10665	1074	38	1		1	NPRL2	3	50385985	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6417	50385985	147636445	4008	11720	164	2									
NPRL2	10641	broad.mit.edu	37	chr3	50385991	50385991	+	Nonsense_Mutation	SNP	G	G	T													accagtgtcacaacgccgtaGtacctgagagagagagctgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50385991G>T	ENST00000232501.3	-	7	1125	c.687C>A	c.(685-687)taC>taA	p.Y229*	NPRL2_ENST00000493465.1_5'UTR	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	229					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						CAACGCCGTAGTACCTGAGAG	0.582													False	0	False	3:50385991	0	T	50385991	G	T	50385991	4	4	88	1	0	0	0	0	0	1	0	0	10665	1024	36	3	475	3	NPRL2	3	50385991	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	50385991	147636439	4009	11721	164	2									
CACNA2D2	9254	broad.mit.edu	37	chr3	50413104	50413104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctccttataggcacccaGgtgtagttccgtgtcacctc	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50413104G>A	ENST00000435965.1	-	21	2051	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	CACNA2D2_ENST00000429770.1_Silent_p.T626T|CACNA2D2_ENST00000266039.3_Silent_p.T626T|CACNA2D2_ENST00000423994.2_Silent_p.T626T|CACNA2D2_ENST00000360963.3_Silent_p.T557T|CACNA2D2_ENST00000395083.1_Silent_p.T626T|CACNA2D2_ENST00000424201.2_Silent_p.T626T|CACNA2D2_ENST00000479441.1_Silent_p.T626T			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	626					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TAGGCACCCAGGTGTAGTTCC	0.622													False	0	False	3:50413104	0	A	50413104	G	A	50413104	2	1	88	1	0	0	0	0	0	0	0	1	2569	987	35	2		2	CACNA2D2	3	50413104	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27113	50413104	147609326	4010	11722											
HEMK1	51409	broad.mit.edu	37	chr3	50608542	50608542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctttccctgagacatggagCtttggggccgaatgctgtgg	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50608542C>A	ENST00000232854.4	+	2	559	c.7C>A	c.(7-9)Ctt>Att	p.L3I	HEMK1_ENST00000455834.1_Missense_Mutation_p.L3I|HEMK1_ENST00000434410.1_Missense_Mutation_p.L3I	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	3					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		AGACATGGAGCTTTGGGGCCG	0.612													False	0	True	3:50608542	0	A	50608542	C	A	50608542	3	1	88	1	0	0	0	0	1	0	0	0	7098	797	28	3	9	3	HEMK1	3	50608542	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195438	50608542	147413888	4011	11723											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50685354	50685354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagtgccttggccactatGcgggtagactacgaccaggt	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50685354G>A	ENST00000446044.1	+	13	1622	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.M342I	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	342					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	p.M342I(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TGGCCACTATGCGGGTAGACT	0.557													False	0	False	3:50685354	0	A	50685354	G	A	50685354	3	1	88	1	0	0	0	0	1	0	0	0	9357	1319	46	2	1064	2	MAPKAPK3	3	50685354	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76812	50685354	147337076	4012	11724											
DOCK3	1795	broad.mit.edu	37	chr3	51251556	51251556	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttgtttttgcaggtcTtatcatttctctgcagcttc	7	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51251556T>G	ENST00000266037.9	+	14	1153	c.1130T>G	c.(1129-1131)cTt>cGt	p.L377R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	377						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTGCAGGTCTTATCATTTCT	0.368													False	0	False	3:51251556	0	G	51251556	T	G	51251556	3	3	88	1	0	0	0	0	1	0	0	0	4718	1609	56	4	1184	4	DOCK3	3	51251556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566202	51251556	146770874	4013	11725											
DOCK3	1795	broad.mit.edu	37	chr3	51263178	51263178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagtgaccatgtatgtgCtttatgcagatggagaaatc	11	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51263178C>A	ENST00000266037.9	+	15	1374	c.1351C>A	c.(1351-1353)Ctt>Att	p.L451I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	451	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CATGTATGTGCTTTATGCAGA	0.433													False	0	True	3:51263178	0	A	51263178	C	A	51263178	3	1	88	1	0	0	0	0	1	0	0	0	4718	797	28	3	1409	3	DOCK3	3	51263178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11622	51263178	146759252	4014	11726											
DOCK3	1795	broad.mit.edu	37	chr3	51264771	51264771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcctaccactcctttgtcCtctaccacagtaatagtcct	4	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51264771C>A	ENST00000266037.9	+	16	1458	c.1435C>A	c.(1435-1437)Ctc>Atc	p.L479I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	479	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.L468I(1)|p.L479I(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTCCTTTGTCCTCTACCACAG	0.478													False	0	False	3:51264771	0	A	51264771	C	A	51264771	3	1	88	1	0	0	0	0	1	0	0	0	4718	681	24	3	1497	3	DOCK3	3	51264771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1593	51264771	146757659	4015	11727											
DOCK3	1795	broad.mit.edu	37	chr3	51394453	51394453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaataagaaccaggagctaCgctccctgatcagccagtat	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51394453C>T	ENST00000266037.9	+	44	4587	c.4564C>T	c.(4564-4566)Cgc>Tgc	p.R1522C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1522	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCAGGAGCTACGCTCCCTGAT	0.512													False	0	False	3:51394453	0	T	51394453	C	T	51394453	3	4	88	1	0	0	0	0	1	0	0	0	4718	536	19	1	4738	1	DOCK3	3	51394453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129682	51394453	146627977	4016	11728											
DOCK3	1795	broad.mit.edu	37	chr3	51399995	51399995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtaccaaggctcagtcaCcaacgtctctgttctgtcct	8	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51399995C>T	ENST00000266037.9	+	49	5206	c.5183C>T	c.(5182-5184)aCc>aTc	p.T1728I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1728						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCTCAGTCACCAACGTCTCT	0.557													False	0	False	3:51399995	0	T	51399995	C	T	51399995	3	4	88	1	0	0	0	0	1	0	0	0	4718	507	18	2	5377	2	DOCK3	3	51399995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5542	51399995	146622435	4017	11729											
VPRBP	9730	broad.mit.edu	37	chr3	51457286	51457286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgacgtaaagtttattggCgcttgccgcctctgttttgg	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51457286C>T	ENST00000335891.5	-	7	1800	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1046					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGTTTATTGGCGCTTGCCGCC	0.507													False	0	False	3:51457286	0	T	51457286	C	T	51457286	2	4	88	1	0	0	0	0	0	0	0	1	17269	755	27	1		1	VPRBP	3	51457286	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57291	51457286	146565144	4018	11730											
VPRBP	9730	broad.mit.edu	37	chr3	51457767	51457767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtgactggggtaaagGcagaagaatgggaggcagca	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51457767G>A	ENST00000335891.5	-	7	1319	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	886					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGGGTAAAGGCAGAAGAATG	0.527													False	0	False	3:51457767	0	A	51457767	G	A	51457767	3	1	88	1	0	0	0	0	1	0	0	0	17269	1203	42	2	1910	2	VPRBP	3	51457767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	481	51457767	146564663	4019	11731											
VPRBP	9730	broad.mit.edu	37	chr3	51458120	51458120	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgatctgccggacagtgctActgcgagacaggcccactag	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51458120A>G	ENST00000335891.5	-	7	966	c.957T>C	c.(955-957)agT>agC	p.S319S				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	768					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGACAGTGCTACTGCGAGACA	0.567													False	0	False	3:51458120	0	G	51458120	A	G	51458120	2	3	88	1	0	0	0	0	0	0	0	1	17269	388	14	4		4	VPRBP	3	51458120	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	353	51458120	146564310	4020	11732											
VPRBP	9730	broad.mit.edu	37	chr3	51517735	51517735	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaaaaaagttattcatacCtggtaaggataggtaccatg	8	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51517735C>A	ENST00000335891.5	-	1	119	c.110G>T	c.(109-111)aGg>aTg	p.R37M				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	37					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TTATTCATACCTGGTAAGGAT	0.443													False	0	False	3:51517735	0	A	51517735	C	A	51517735	5	1	88	1	0	0	0	0	0	0	1	0	17269	695	24	3	4342	3	VPRBP	3	51517735	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59615	51517735	146504695	4021	11733											
GRM2	2912	broad.mit.edu	37	chr3	51743024	51743024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgctgcttgcgctcctgGcactgctgctgctgtggggt	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51743024G>A	ENST00000395052.3	+	2	259	c.25G>A	c.(25-27)Gca>Aca	p.A9T	GRM2_ENST00000442933.2_Missense_Mutation_p.A9T|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	9					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TGCGCTCCTGGCACTGCTGCT	0.632													False	0	False	3:51743024	0	A	51743024	G	A	51743024	3	1	88	1	0	0	0	0	1	0	0	0	6844	1203	42	2	27	2	GRM2	3	51743024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225289	51743024	146279406	4022	11734											
GRM2	2912	broad.mit.edu	37	chr3	51743339	51743339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctcactcagccgtggtGctgatggctcacgccacatc	11	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51743339G>A	ENST00000395052.3	+	2	574	c.340G>A	c.(340-342)Gct>Act	p.A114T	GRM2_ENST00000442933.2_Missense_Mutation_p.A114T|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	114					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CAGCCGTGGTGCTGATGGCTC	0.597													False	0	False	3:51743339	0	A	51743339	G	A	51743339	3	1	88	1	0	0	0	0	1	0	0	0	6844	1319	46	2	342	2	GRM2	3	51743339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	315	51743339	146279091	4023	11735											
GRM2	2912	broad.mit.edu	37	chr3	51749343	51749343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagccgggcgaagtctgCtgctggctctgcattccgtg	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51749343C>T	ENST00000395052.3	+	4	1788	c.1554C>T	c.(1552-1554)tgC>tgT	p.C518C	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	518					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCGAAGTCTGCTGCTGGCTCT	0.632													False	0	True	3:51749343	0	T	51749343	C	T	51749343	2	4	88	1	0	0	0	0	0	0	0	1	6844	805	28	2		2	GRM2	3	51749343	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6004	51749343	146273087	4024	11736											
IQCF2	389123	broad.mit.edu	37	chr3	51897380	51897380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccacattgagatcatcaaCtcctaagggctggcaagaag	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51897380C>T	ENST00000333127.3	+	3	518	c.489C>T	c.(487-489)aaC>aaT	p.N163N	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	163										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGATCATCAACTCCTAAGGGC	0.552													False	0	False	3:51897380	0	T	51897380	C	T	51897380	2	4	88	1	0	0	0	0	0	0	0	1	7858	564	20	2		2	IQCF2	3	51897380	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148037	51897380	146125050	4025	11737											
IQCF1	132141	broad.mit.edu	37	chr3	51929102	51929102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctggcaatagcgtctgCggatgcgccacatgcgggcc	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51929102C>T	ENST00000310914.5	-	4	484	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	141	IQ 2.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATAGCGTCTGCGGATGCGCCA	0.607													False	0	False	3:51929102	0	T	51929102	C	T	51929102	3	4	88	1	0	0	0	0	1	0	0	0	7857	768	27	1	199	1	IQCF1	3	51929102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31722	51929102	146093328	4026	11738											
GPR62	118442	broad.mit.edu	37	chr3	51990245	51990245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgctgctcggcgcctacGgcggcatcttcgtggtggcg	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51990245G>A	ENST00000322241.4	+	1	916	c.577G>A	c.(577-579)Ggc>Agc	p.G193S		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	193						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGGCGCCTACGGCGGCATCTT	0.746													False	0	False	3:51990245	0	A	51990245	G	A	51990245	3	1	88	1	0	0	0	0	1	0	0	0	6749	1116	39	1	579	1	GPR62	3	51990245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61143	51990245	146032185	4027	11739											
GPR62	118442	broad.mit.edu	37	chr3	51990621	51990621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgcgggcctgcactcCgcaagcctggcacccgcggg	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51990621C>T	ENST00000322241.4	+	1	1292	c.953C>T	c.(952-954)cCg>cTg	p.P318L		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	318						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCTGCACTCCGCAAGCCTGG	0.697													False	0	False	3:51990621	0	T	51990621	C	T	51990621	3	4	88	1	0	0	0	0	1	0	0	0	6749	652	23	1	955	1	GPR62	3	51990621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	376	51990621	146031809	4028	11740											
ABHD14A	25864	broad.mit.edu	37	chr3	52014483	52014483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgctggagcgggcgctgCgggacctggaggtacagaat	18	10	0	1	rs147658919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52014483C>T	ENST00000273596.3	+	4	540	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	ABHD14A_ENST00000491470.1_Intron|ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000458031.2_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	158						cytoplasm|integral to membrane	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGGGCGCTGCGGGACCTGGA	0.627													False	0	True	3:52014483	0	T	52014483	C	T	52014483	3	4	88	1	0	0	0	0	1	0	0	0	79	759	27	1	486	1	ABHD14A	3	52014483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23862	52014483	146007947	4029	11741											
DUSP7	1849	broad.mit.edu	37	chr3	52087977	52087977	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgaagctgatggcctcagGgaagaactgggagaggttct	15	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52087977G>T	ENST00000495880.1	-	2	1114	c.931C>A	c.(931-933)Cct>Act	p.P311T	DUSP7_ENST00000296483.6_Missense_Mutation_p.P260T			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	311	Tyrosine-protein phosphatase.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGGCCTCAGGGAAGAACTGG	0.612													False	0	True	3:52087977	0	T	52087977	G	T	52087977	3	4	88	1	0	0	0	0	1	0	0	0	4860	1232	43	3	336	3	DUSP7	3	52087977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73494	52087977	145934453	4030	11742											
POC1A	25886	broad.mit.edu	37	chr3	52156463	52156463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgacttctccatgatcaaCaatatcaaagttactcttcc	4	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52156463C>T	ENST00000394970.2	-	9	1230	c.913G>A	c.(913-915)Gtt>Att	p.V305I	POC1A_ENST00000296484.2_Missense_Mutation_p.V305I|POC1A_ENST00000474012.1_Missense_Mutation_p.V267I	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	305						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CCATGATCAACAATATCAAAG	0.517													False	0	False	3:52156463	0	T	52156463	C	T	52156463	3	4	88	1	0	0	0	0	1	0	0	0	12244	478	17	2	322	2	POC1A	3	52156463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68486	52156463	145865967	4031	11743											
POC1A	25886	broad.mit.edu	37	chr3	52181054	52181054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccggctgctcttgtcccaCagcttaacagtcttgtcatc	7	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52181054C>T	ENST00000394970.2	-	5	830	c.513G>A	c.(511-513)ctG>ctA	p.L171L	POC1A_ENST00000296484.2_Silent_p.L171L|POC1A_ENST00000474012.1_Silent_p.L133L	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	171						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TCTTGTCCCACAGCTTAACAG	0.582													False	0	False	3:52181054	0	T	52181054	C	T	52181054	2	4	88	1	0	0	0	0	0	0	0	1	12244	465	17	2		2	POC1A	3	52181054	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24591	52181054	145841376	4032	11744											
POC1A	25886	broad.mit.edu	37	chr3	52185074	52185074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagtccacacaggtaactgCatctcggtggcccttaaaat	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52185074C>A	ENST00000394970.2	-	2	378	c.61G>T	c.(61-63)Gca>Tca	p.A21S	POC1A_ENST00000296484.2_Missense_Mutation_p.A21S|POC1A_ENST00000474012.1_5'UTR	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	21						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CAGGTAACTGCATCTCGGTGG	0.532													False	0	False	3:52185074	0	A	52185074	C	A	52185074	3	1	88	1	0	0	0	0	1	0	0	0	12244	710	25	3	1202	3	POC1A	3	52185074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4020	52185074	145837356	4033	11745											
ALAS1	211	broad.mit.edu	37	chr3	52239987	52239987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcactcttgttttcctcGtgctttgtggccaatgactc	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52239987G>A	ENST00000394965.2	+	7	1293	c.933G>A	c.(931-933)tcG>tcA	p.S311S	ALAS1_ENST00000469224.1_Silent_p.S311S|ALAS1_ENST00000310271.2_Silent_p.S311S|ALAS1_ENST00000484952.1_Silent_p.S311S	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	311					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.S311S(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGTTTTCCTCGTGCTTTGTGG	0.483													False	0	False	3:52239987	0	A	52239987	G	A	52239987	2	1	88	1	0	0	0	0	0	0	0	1	484	1132	40	1		1	ALAS1	3	52239987	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54913	52239987	145782443	4034	11746											
TLR9	54106	broad.mit.edu	37	chr3	52256063	52256063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagagggttggcgcttaCatctagtatttgcagggcac	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52256063C>T	ENST00000597542.1	-	9	3298	c.2341G>A	c.(2341-2343)Gta>Ata	p.V781I	TLR9_ENST00000360658.2_Missense_Mutation_p.V757I|TLR9_ENST00000494383.1_Missense_Mutation_p.C910Y			Q9NR96	TLR9_HUMAN	toll-like receptor 9	757					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TTGGCGCTTACATCTAGTATT	0.637													False	0	False	3:52256063	0	T	52256063	C	T	52256063	3	4	88	1	0	0	0	0	1	0	0	0	16040	478	17	2	833	2	TLR9	3	52256063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16076	52256063	145766367	4035	11747											
TLR9	54106	broad.mit.edu	37	chr3	52256221	52256221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctgacatccagcctcCggagccgggtgccagcaggc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52256221C>T	ENST00000597542.1	-	9	3140	c.2183G>A	c.(2182-2184)cGg>cAg	p.R728Q	TLR9_ENST00000360658.2_Missense_Mutation_p.R704Q|TLR9_ENST00000494383.1_Silent_p.P857P			Q9NR96	TLR9_HUMAN	toll-like receptor 9	704					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ATCCAGCCTCCGGAGCCGGGT	0.627													False	0	False	3:52256221	0	T	52256221	C	T	52256221	3	4	88	1	0	0	0	0	1	0	0	0	16040	652	23	1	991	1	TLR9	3	52256221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158	52256221	145766209	4036	11748											
TLR9	54106	broad.mit.edu	37	chr3	52257562	52257562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgggagcgtggtcgcagCggcggcaatttccgcccaca	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52257562C>T	ENST00000597542.1	-	9	1799	c.842G>A	c.(841-843)cGc>cAc	p.R281H	TLR9_ENST00000360658.2_Missense_Mutation_p.R257H|TLR9_ENST00000494383.1_Silent_p.P410P			Q9NR96	TLR9_HUMAN	toll-like receptor 9	257					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GTGGTCGCAGCGGCGGCAATT	0.617													False	0	False	3:52257562	0	T	52257562	C	T	52257562	3	4	88	1	0	0	0	0	1	0	0	0	16040	768	27	1	2332	1	TLR9	3	52257562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1341	52257562	145764868	4037	11749											
TLR9	54106	broad.mit.edu	37	chr3	52258212	52258212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgcagttcaccaggccGtggggctggagctcacaggg	16	11	2	0	rs151147353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52258212G>A	ENST00000494383.1	-	5	579	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	TLR9_ENST00000360658.2_Silent_p.H40H|TLR9_ENST00000597542.1_Silent_p.H64H			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCACCAGGCCGTGGGGCTGGA	0.627													False	0	False	3:52258212	0	A	52258212	G	A	52258212	3	1	88	1	0	0	0	0	1	0	0	0	16040	1136	40	1	2982	1	TLR9	3	52258212	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	650	52258212	145764218	4038	11750											
TWF2	11344	broad.mit.edu	37	chr3	52265189	52265189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctcagccgaggtcagcGgggcaggtgccgcacaggac	15	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52265189G>A	ENST00000305533.5	-	5	680	c.437C>T	c.(436-438)cCg>cTg	p.P146L	TLR9_ENST00000494383.1_Silent_p.P6P|TWF2_ENST00000499914.2_Missense_Mutation_p.P146L|TLR9_ENST00000597542.1_5'UTR	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGAGGTCAGCGGGGCAGGTGC	0.617													False	0	True	3:52265189	0	A	52265189	G	A	52265189	3	1	88	1	0	0	0	0	1	0	0	0	16866	1116	39	1	632	1	TWF2	3	52265189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6977	52265189	145757241	4039	11751											
TWF2	11344	broad.mit.edu	37	chr3	52266028	52266028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcattctgtgagtcgaggcGgtagagcaggtagcagggct	17	7	1	2	rs35114109		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52266028G>A	ENST00000305533.5	-	3	457	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	TWF2_ENST00000499914.2_Missense_Mutation_p.R72C|TLR9_ENST00000597542.1_5'UTR	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGTCGAGGCGGTAGAGCAGG	0.647											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	3:52266028	0	A	52266028	G	A	52266028	3	1	88	1	0	0	0	0	1	0	0	0	16866	1116	39	1	863	1	TWF2	3	52266028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	839	52266028	145756402	4040	11752											
DNAH1	25981	broad.mit.edu	37	chr3	52357823	52357823	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccatggtttggtttcaGgaggtatgtcgtggcccccg	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357823G>A	ENST00000420323.2	+	3	594		c.e3-1			NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTTGGTTTCAGGAGGTATGTC	0.622													False	0	False	3:52357823	0	A	52357823	G	A	52357823	5	1	88	1	0	0	0	0	0	0	1	0	4627	1014	35	2	339	2	DNAH1	3	52357823	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91795	52357823	145664607	4041	11753											
DNAH1	25981	broad.mit.edu	37	chr3	52357834	52357834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtttcaggaggtatgtcGtggcccccgaatgagccaga	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357834G>A	ENST00000420323.2	+	3	605	c.344G>A	c.(343-345)cGt>cAt	p.R115H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	115	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTATGTCGTGGCCCCCGA	0.627													False	0	False	3:52357834	0	A	52357834	G	A	52357834	3	1	88	1	0	0	0	0	1	0	0	0	4627	1145	40	1	350	1	DNAH1	3	52357834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	52357834	145664596	4042	11754											
DNAH1	25981	broad.mit.edu	37	chr3	52357889	52357889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaccttgacaagttcacCccaagaggtcagtgctcagg	11	12	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357889C>T	ENST00000420323.2	+	3	660	c.399C>T	c.(397-399)acC>acT	p.T133T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	133	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAAGTTCACCCCAAGAGGTC	0.567													False	0	True	3:52357889	0	T	52357889	C	T	52357889	2	4	88	1	0	0	0	0	0	0	0	1	4627	610	22	2		2	DNAH1	3	52357889	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	52357889	145664541	4043	11755											
DNAH1	25981	broad.mit.edu	37	chr3	52360312	52360312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccaggccagcatcctcGcaagattgagatcgagaggt	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52360312G>A	ENST00000420323.2	+	4	824	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	188	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCATCCTCGCAAGATTGAG	0.642													False	0	False	3:52360312	0	A	52360312	G	A	52360312	3	1	88	1	0	0	0	0	1	0	0	0	4627	1087	38	1	573	1	DNAH1	3	52360312	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2423	52360312	145662118	4044	11756											
DNAH1	25981	broad.mit.edu	37	chr3	52360809	52360809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgttcagccagggcatcGactccaacaagctcatgccc	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52360809G>A	ENST00000420323.2	+	5	901	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	214	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGGGCATCGACTCCAACAA	0.592													False	0	False	3:52360809	0	A	52360809	G	A	52360809	3	1	88	1	0	0	0	0	1	0	0	0	4627	1058	37	1	654	1	DNAH1	3	52360809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	497	52360809	145661621	4045	11757											
DNAH1	25981	broad.mit.edu	37	chr3	52383039	52383039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcccactgcaggcctacGccaaggagtaccgaaagtac	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52383039G>A	ENST00000420323.2	+	13	2503	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	748	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCAGGCCTACGCCAAGGAGTA	0.582													False	0	False	3:52383039	0	A	52383039	G	A	52383039	3	1	88	1	0	0	0	0	1	0	0	0	4627	1087	38	1	2288	1	DNAH1	3	52383039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22230	52383039	145639391	4046	11758											
DNAH1	25981	broad.mit.edu	37	chr3	52389063	52389063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgggagaacaaactgaagCtgacccaggtcggccctccc	11	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52389063C>A	ENST00000420323.2	+	21	3946	c.3685C>A	c.(3685-3687)Ctg>Atg	p.L1229M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1229	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAACTGAAGCTGACCCAGGT	0.577													False	0	False	3:52389063	0	A	52389063	C	A	52389063	3	1	88	1	0	0	0	0	1	0	0	0	4627	796	28	3	3763	3	DNAH1	3	52389063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6024	52389063	145633367	4047	11759											
DNAH1	25981	broad.mit.edu	37	chr3	52393941	52393941	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catttctgcagctcagtgatCtggtggcccttgtgcggggg	15	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52393941C>A	ENST00000420323.2	+	27	4678	c.4417C>A	c.(4417-4419)Ctg>Atg	p.L1473M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1473	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTCAGTGATCTGGTGGCCCT	0.592													False	0	False	3:52393941	0	A	52393941	C	A	52393941	3	1	88	1	0	0	0	0	1	0	0	0	4627	912	32	3	4519	3	DNAH1	3	52393941	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4878	52393941	145628489	4048	11760											
DNAH1	25981	broad.mit.edu	37	chr3	52404631	52404631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcagccactggctaaggCtcaagatggagaacgaacag	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52404631C>T	ENST00000420323.2	+	40	6658	c.6397C>T	c.(6397-6399)Ctc>Ttc	p.L2133F		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2133					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGCTAAGGCTCAAGATGGA	0.627													False	0	False	3:52404631	0	T	52404631	C	T	52404631	3	4	88	1	0	0	0	0	1	0	0	0	4627	797	28	2	6551	2	DNAH1	3	52404631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10690	52404631	145617799	4049	11761											
DNAH1	25981	broad.mit.edu	37	chr3	52418934	52418934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattttctccatcctcatcGggcagaagaaactggagctg	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52418934G>A	ENST00000420323.2	+	53	8716	c.8455G>A	c.(8455-8457)Ggg>Agg	p.G2819R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2819	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCCTCATCGGGCAGAAGAA	0.567											OREG0015612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	3:52418934	0	A	52418934	G	A	52418934	3	1	88	1	0	0	0	0	1	0	0	0	4627	1116	39	1	8661	1	DNAH1	3	52418934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14303	52418934	145603496	4050	11762											
DNAH1	25981	broad.mit.edu	37	chr3	52425296	52425296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccatgtctcctggagaaCgtgggcgaggagctagaccc	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52425296C>T	ENST00000420323.2	+	62	10104	c.9843C>T	c.(9841-9843)aaC>aaT	p.N3281N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3346	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCTGGAGAACGTGGGCGAGG	0.607													False	0	False	3:52425296	0	T	52425296	C	T	52425296	2	4	88	1	0	0	0	0	0	0	0	1	4627	535	19	1		1	DNAH1	3	52425296	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6362	52425296	145597134	4051	11763											
DNAH1	25981	broad.mit.edu	37	chr3	52429072	52429072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccacgcttcattgaaccCcaggcaagtgctggaaccct	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52429072C>T	ENST00000420323.2	+	68	11226	c.10965C>T	c.(10963-10965)ccC>ccT	p.P3655P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3720					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCATTGAACCCCAGGCAAGTG	0.617													False	0	True	3:52429072	0	T	52429072	C	T	52429072	2	4	88	1	0	0	0	0	0	0	0	1	4627	610	22	2		2	DNAH1	3	52429072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3776	52429072	145593358	4052	11764											
PHF7	51533	broad.mit.edu	37	chr3	52448595	52448595	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatatcagcgtgcattatTtctgtcttgtgagtatgagg	10	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52448595T>G	ENST00000327906.3	+	4	838	c.178T>G	c.(178-180)Ttc>Gtc	p.F60V	PHF7_ENST00000347025.2_Missense_Mutation_p.F60V|PHF7_ENST00000482327.1_3'UTR	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	60						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CGTGCATTATTTCTGTCTTGT	0.443													False	0	True	3:52448595	0	G	52448595	T	G	52448595	3	3	88	1	0	0	0	0	1	0	0	0	11908	1841	64	4	188	4	PHF7	3	52448595	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19523	52448595	145573835	4053	11765											
SEMA3G	56920	broad.mit.edu	37	chr3	52474045	52474045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggctcgggcaaactgcaGcacctcatctgggtagtcct	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52474045G>T	ENST00000231721.2	-	11	1212	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	405	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCAAACTGCAGCACCTCATCT	0.637													False	0	False	3:52474045	0	T	52474045	G	T	52474045	3	4	88	1	0	0	0	0	1	0	0	0	14111	962	34	3	1159	3	SEMA3G	3	52474045	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25450	52474045	145548385	4054	11766											
SEMA3G	56920	broad.mit.edu	37	chr3	52475298	52475298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacgcagacgcggcccacGcggctgacagtgacatggtt	13	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52475298G>A	ENST00000231721.2	-	7	794	c.795C>T	c.(793-795)cgC>cgT	p.R265R		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	265	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGCGGCCCACGCGGCTGACAG	0.612													False	0	False	3:52475298	0	A	52475298	G	A	52475298	2	1	88	1	0	0	0	0	0	0	0	1	14111	1074	38	1		1	SEMA3G	3	52475298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1253	52475298	145547132	4055	11767											
TNNC1	7134	broad.mit.edu	37	chr3	52485422	52485422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccatcatagtcgatgcGgccgtcgttgttcttgtctc	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52485422G>A	ENST00000232975.3	-	5	493	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	147	EF-hand 4.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	p.R147C(1)		endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	TAGTCGATGCGGCCGTCGTTG	0.592													False	0	False	3:52485422	0	A	52485422	G	A	52485422	3	1	88	1	0	0	0	0	1	0	0	0	16406	1116	39	1	54	1	TNNC1	3	52485422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10124	52485422	145537008	4056	11768											
TNNC1	7134	broad.mit.edu	37	chr3	52485481	52485481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtcgtcctccgtgatgGtctcgcctgtagcctgcagc	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52485481G>A	ENST00000232975.3	-	5	434	c.380C>T	c.(379-381)aCc>aTc	p.T127I		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	127	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CTCCGTGATGGTCTCGCCTGT	0.587													False	0	False	3:52485481	0	A	52485481	G	A	52485481	3	1	88	1	0	0	0	0	1	0	0	0	16406	1261	44	2	113	2	TNNC1	3	52485481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	52485481	145536949	4057	11769											
NISCH	11188	broad.mit.edu	37	chr3	52514216	52514216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggtggtgaagactcccGgctctcagctgccccctgca	12	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52514216G>A	ENST00000345716.4	+	13	1567	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	NISCH_ENST00000488380.1_Missense_Mutation_p.R478Q|NISCH_ENST00000479054.1_Missense_Mutation_p.R478Q|NISCH_ENST00000420808.2_Missense_Mutation_p.R478Q	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	478	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GAAGACTCCCGGCTCTCAGCT	0.637													False	0	True	3:52514216	0	A	52514216	G	A	52514216	3	1	88	1	0	0	0	0	1	0	0	0	10500	1116	39	1	1483	1	NISCH	3	52514216	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28735	52514216	145508214	4058	11770											
NISCH	11188	broad.mit.edu	37	chr3	52521339	52521339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcctgagcacactgatcCggcaggccatcgagcggcag	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521339C>T	ENST00000345716.4	+	16	1965	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	NISCH_ENST00000479054.1_Missense_Mutation_p.R611W	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	611	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CACACTGATCCGGCAGGCCAT	0.647													False	0	False	3:52521339	0	T	52521339	C	T	52521339	3	4	88	1	0	0	0	0	1	0	0	0	10500	643	23	1	1893	1	NISCH	3	52521339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7123	52521339	145501091	4059	11771											
NISCH	11188	broad.mit.edu	37	chr3	52521711	52521711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgtgctcaccgacttcGgcatcgcagtcttcgagatc	10	14	2	1	rs145748458	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521711G>A	ENST00000345716.4	+	16	2337	c.2203G>A	c.(2203-2205)Ggc>Agc	p.G735S	NISCH_ENST00000479054.1_Missense_Mutation_p.G735S	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	735	Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CACCGACTTCGGCATCGCAGT	0.617													False	0	False	3:52521711	0	A	52521711	G	A	52521711	3	1	88	1	0	0	0	0	1	0	0	0	10500	1116	39	1	2265	1	NISCH	3	52521711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	372	52521711	145500719	4060	11772											
NISCH	11188	broad.mit.edu	37	chr3	52521950	52521950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcatgctttgcaccccaGcacatggccatgctgtgtag	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521950G>A	ENST00000345716.4	+	16	2576	c.2442G>A	c.(2440-2442)caG>caA	p.Q814Q	NISCH_ENST00000479054.1_Silent_p.Q814Q	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	814	Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TTGCACCCCAGCACATGGCCA	0.612													False	0	False	3:52521950	0	A	52521950	G	A	52521950	2	1	88	1	0	0	0	0	0	0	0	1	10500	962	34	2		2	NISCH	3	52521950	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	239	52521950	145500480	4061	11773											
NISCH	11188	broad.mit.edu	37	chr3	52526255	52526255	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgagtgctcatgggctaccaGacctacccgcaggccctcac	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52526255G>A	ENST00000345716.4	+	21	4406	c.4272G>A	c.(4270-4272)caG>caA	p.Q1424Q	NISCH_ENST00000479054.1_Silent_p.Q1424Q	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1424					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGGGCTACCAGACCTACCCGC	0.652													False	0	False	3:52526255	0	A	52526255	G	A	52526255	2	1	88	1	0	0	0	0	0	0	0	1	10500	933	33	2		2	NISCH	3	52526255	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4305	52526255	145496175	4062	11774											
STAB1	23166	broad.mit.edu	37	chr3	52538065	52538065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgcagggaaagcgaGgtgggggatgggcgtgcctg	22	5	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52538065G>T	ENST00000321725.6	+	10	1120	c.1044G>T	c.(1042-1044)gaG>gaT	p.E348D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	348					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGAAAGCGAGGTGGGGGATG	0.711													False	0	False	3:52538065	0	T	52538065	G	T	52538065	3	4	88	1	0	0	0	0	1	0	0	0	15319	991	35	3	1082	3	STAB1	3	52538065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11810	52538065	145484365	4063	11775											
STAB1	23166	broad.mit.edu	37	chr3	52539356	52539356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactatcggacagatcctcGcctctaccgaggccttcagc	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52539356G>A	ENST00000321725.6	+	14	1616	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	514	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGATCCTCGCCTCTACCGA	0.622													False	0	False	3:52539356	0	A	52539356	G	A	52539356	3	1	88	1	0	0	0	0	1	0	0	0	15319	1087	38	1	1594	1	STAB1	3	52539356	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1291	52539356	145483074	4064	11776											
STAB1	23166	broad.mit.edu	37	chr3	52540865	52540865	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagcacaagattgtggCggtgagcctcgcctgcacgg	16	11	0	2	rs150932374	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52540865C>T	ENST00000321725.6	+	18	2064	c.1988C>T	c.(1987-1989)gCg>gTg	p.A663V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	663					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAGATTGTGGCGGTGAGCCTC	0.647													False	0	False	3:52540865	0	T	52540865	C	T	52540865	5	4	88	1	0	0	0	0	0	0	1	0	15319	782	27	1	2058	1	STAB1	3	52540865	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1509	52540865	145481565	4065	11777											
STAB1	23166	broad.mit.edu	37	chr3	52542317	52542317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcaaaggttttttcgGgcctgactgcacgcagtgtc	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52542317G>A	ENST00000321725.6	+	21	2253	c.2177G>A	c.(2176-2178)gGg>gAg	p.G726E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	726					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGTTTTTTCGGGCCTGACTGC	0.582													False	0	True	3:52542317	0	A	52542317	G	A	52542317	3	1	88	1	0	0	0	0	1	0	0	0	15319	1232	43	2	2259	2	STAB1	3	52542317	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1452	52542317	145480113	4066	11778											
STAB1	23166	broad.mit.edu	37	chr3	52543325	52543325	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaaacaagcatggagagCaatgccaggaaggtgggtgg	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52543325C>T	ENST00000321725.6	+	22	2411	c.2335C>T	c.(2335-2337)Caa>Taa	p.Q779*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	779					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCATGGAGAGCAATGCCAGGA	0.577													False	0	False	3:52543325	0	T	52543325	C	T	52543325	4	4	88	1	0	0	0	0	0	1	0	0	15319	711	25	2	2421	2	STAB1	3	52543325	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1008	52543325	145479105	4067	11779											
STAB1	23166	broad.mit.edu	37	chr3	52550718	52550718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccctcccagctgcgtgcagGactcggccggagcctccacc	11	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52550718G>A	ENST00000321725.6	+	41	4373	c.4297G>A	c.(4297-4299)Gac>Aac	p.D1433N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1433	EGF-like 10.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGCGTGCAGGACTCGGCCGG	0.682													False	0	False	3:52550718	0	A	52550718	G	A	52550718	3	1	88	1	0	0	0	0	1	0	0	0	15319	1174	41	2	4459	2	STAB1	3	52550718	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7393	52550718	145471712	4068	11780											
STAB1	23166	broad.mit.edu	37	chr3	52554039	52554039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccacagacgccgcctttcGagctctgcctccggatcgcc	10	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52554039G>A	ENST00000321725.6	+	51	5391	c.5315G>A	c.(5314-5316)cGa>cAa	p.R1772Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1772	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCGCCTTTCGAGCTCTGCCT	0.627													False	0	False	3:52554039	0	A	52554039	G	A	52554039	3	1	88	1	0	0	0	0	1	0	0	0	15319	1058	37	1	5517	1	STAB1	3	52554039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3321	52554039	145468391	4069	11781											
STAB1	23166	broad.mit.edu	37	chr3	52556666	52556666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcgaagcacagggagccGtccttgcttcattccctcag	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52556666G>A	ENST00000321725.6	+	61	6782	c.6706G>A	c.(6706-6708)Gtc>Atc	p.V2236I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2236	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGGGAGCCGTCCTTGCTTC	0.617													False	0	False	3:52556666	0	A	52556666	G	A	52556666	3	1	88	1	0	0	0	0	1	0	0	0	15319	1145	40	1	6948	1	STAB1	3	52556666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2627	52556666	145465764	4070	11782											
STAB1	23166	broad.mit.edu	37	chr3	52556948	52556948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatgcctactgcttccGtgtgcaaggtgtgtccaccc	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52556948G>A	ENST00000321725.6	+	62	6978	c.6902G>A	c.(6901-6903)cGt>cAt	p.R2301H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2301	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TACTGCTTCCGTGTGCAAGGT	0.602													False	0	False	3:52556948	0	A	52556948	G	A	52556948	3	1	88	1	0	0	0	0	1	0	0	0	15319	1145	40	1	7148	1	STAB1	3	52556948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	282	52556948	145465482	4071	11783											
NT5DC2	64943	broad.mit.edu	37	chr3	52558576	52558576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggtgcctcgtgctgcagCggcgtacggcgtgggtagaa	19	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52558576C>T	ENST00000307076.4	-	14	1873	c.1473G>A	c.(1471-1473)ccG>ccA	p.P491P	NT5DC2_ENST00000307092.4_Silent_p.P432P|NT5DC2_ENST00000422318.2_Silent_p.P528P|NT5DC2_ENST00000459839.1_Silent_p.P503P	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	491				P -> S (in Ref. 2; BAB14064).			hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CGTGCTGCAGCGGCGTACGGC	0.627													False	0	False	3:52558576	0	T	52558576	C	T	52558576	2	4	88	1	0	0	0	0	0	0	0	1	10759	755	27	1		1	NT5DC2	3	52558576	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1628	52558576	145463854	4072	11784											
NT5DC2	64943	broad.mit.edu	37	chr3	52561315	52561315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagatggcccttacctgccGatagatcttgcccttttcca	7	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52561315G>A	ENST00000307076.4	-	10	1403	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	NT5DC2_ENST00000307092.4_Missense_Mutation_p.R276W|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R372W|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R347W	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	335							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CTTACCTGCCGATAGATCTTG	0.592													False	0	False	3:52561315	0	A	52561315	G	A	52561315	3	1	88	1	0	0	0	0	1	0	0	0	10759	1057	37	1	579	1	NT5DC2	3	52561315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2739	52561315	145461115	4073	11785											
NT5DC2	64943	broad.mit.edu	37	chr3	52568642	52568642	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccaacaaaattcctctttCctgcgcagaaccgctctcca	4	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52568642C>A	ENST00000307076.4	-	1	428	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	SMIM4_ENST00000482728.1_3'UTR	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	10							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ATTCCTCTTTCCTGCGCAGAA	0.592													False	0	True	3:52568642	0	A	52568642	C	A	52568642	4	1	88	1	0	0	0	0	0	1	0	0	10759	864	30	3	1826	3	NT5DC2	3	52568642	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7327	52568642	145453788	4074	11786											
PBRM1	55193	broad.mit.edu	37	chr3	52620542	52620542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaaatacagaggccacgcGaaccacaggcagaggcacat	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52620542G>A	ENST00000356770.4	-	19	3192	c.3190C>T	c.(3190-3192)Cgc>Tgc	p.R1064C	PBRM1_ENST00000394830.3_Missense_Mutation_p.R1071C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1111C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R1096C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1111C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1071C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1096C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1096C			Q86U86	PB1_HUMAN	polybromo 1	1096	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAGGCCACGCGAACCACAGGC	0.438			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								False	0	False	3:52620542	0	A	52620542	G	A	52620542	3	1	88	1	0	0	0	0	1	0	0	0	11559	1058	37	1	1658	1	PBRM1	3	52620542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51900	52620542	145401888	4075	11787											
PBRM1	55193	broad.mit.edu	37	chr3	52637690	52637690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttttgcagagttcatcacGaattttaataaaaaactgct	5	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52637690G>A	ENST00000356770.4	-	16	2532	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	PBRM1_ENST00000394830.3_Missense_Mutation_p.R876C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R891C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R876C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R891C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R876C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R876C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R876C			Q86U86	PB1_HUMAN	polybromo 1	876	Bromo 6.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGTTCATCACGAATTTTAATA	0.353			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								False	0	False	3:52637690	0	A	52637690	G	A	52637690	3	1	88	1	0	0	0	0	1	0	0	0	11559	1058	37	1	2330	1	PBRM1	3	52637690	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17148	52637690	145384740	4076	11788											
ITIH1	3697	broad.mit.edu	37	chr3	52814339	52814339	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaagctggatgcccaggccTctttcctgccgaaggaactg	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52814339T>G	ENST00000273283.2	+	6	652	c.628T>G	c.(628-630)Tct>Gct	p.S210A	ITIH1_ENST00000542827.1_Missense_Mutation_p.S210A|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.S68A|ITIH1_ENST00000537050.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	210					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGCCCAGGCCTCTTTCCTGCC	0.483													False	0	False	3:52814339	0	G	52814339	T	G	52814339	3	3	88	1	0	0	0	0	1	0	0	0	7953	1551	54	4	650	4	ITIH1	3	52814339	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176649	52814339	145208091	4077	11789											
ITIH3	3699	broad.mit.edu	37	chr3	52830660	52830660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttcatcaccaacttcaCcttgtgggtaccaccatggc	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52830660C>T	ENST00000449956.2	+	3	284	c.278C>T	c.(277-279)aCc>aTc	p.T93I	ITIH3_ENST00000416872.2_Missense_Mutation_p.T93I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	93	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCAACTTCACCTTGTGGGTA	0.582													False	0	False	3:52830660	0	T	52830660	C	T	52830660	3	4	88	1	0	0	0	0	1	0	0	0	7955	507	18	2	288	2	ITIH3	3	52830660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16321	52830660	145191770	4078	11790											
ITIH3	3699	broad.mit.edu	37	chr3	52831234	52831234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggcacaagggcaagtAcgagatgtacctcaaggtcc	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52831234A>G	ENST00000449956.2	+	5	506	c.500A>G	c.(499-501)tAc>tGc	p.Y167C	ITIH3_ENST00000416872.2_Missense_Mutation_p.Y167C	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	167					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AAGGGCAAGTACGAGATGTAC	0.562													False	0	False	3:52831234	0	G	52831234	A	G	52831234	3	3	88	1	0	0	0	0	1	0	0	0	7955	391	14	4	518	4	ITIH3	3	52831234	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	574	52831234	145191196	4079	11791											
TMEM110	375346	broad.mit.edu	37	chr3	52877754	52877754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgttgacaaagaaggggaCgatcagcatgacgatggcca	14	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52877754C>T	ENST00000355083.5	-	6	746	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.V201I	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		AAGAAGGGGACGATCAGCATG	0.507													False	0	False	3:52877754	0	T	52877754	C	T	52877754	3	4	88	1	0	0	0	0	1	0	0	0	16109	536	19	1	295	1	TMEM110	3	52877754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46520	52877754	145144676	4080	11792											
TMEM110	375346	broad.mit.edu	37	chr3	52877775	52877775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcagcatgacgatggccaGcttcaagtctgggttttcaa	11	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52877775G>T	ENST00000355083.5	-	6	725	c.580C>A	c.(580-582)Ctg>Atg	p.L194M	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.L194M	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		ACGATGGCCAGCTTCAAGTCT	0.532													False	0	False	3:52877775	0	T	52877775	G	T	52877775	3	4	88	1	0	0	0	0	1	0	0	0	16109	962	34	3	316	3	TMEM110	3	52877775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	52877775	145144655	4081	11793											
SFMBT1	51460	broad.mit.edu	37	chr3	52955765	52955765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctctcactgcagtgatgGtagcaacacacacttcttca	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52955765G>A	ENST00000394752.3	-	11	1596	c.1214C>T	c.(1213-1215)aCc>aTc	p.T405I	SFMBT1_ENST00000296295.6_Missense_Mutation_p.T405I|SFMBT1_ENST00000358080.2_Missense_Mutation_p.T405I|SFMBT1_ENST00000394750.1_Missense_Mutation_p.T405I	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	405					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TGCAGTGATGGTAGCAACACA	0.493													False	0	False	3:52955765	0	A	52955765	G	A	52955765	3	1	88	1	0	0	0	0	1	0	0	0	14238	1261	44	2	1430	2	SFMBT1	3	52955765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77990	52955765	145066665	4082	11794											
PRKCD	5580	broad.mit.edu	37	chr3	53220225	53220225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggagagtactttgccAtcaaggccctcaagaaggat	12	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53220225A>G	ENST00000394729.2	+	12	1457	c.1129A>G	c.(1129-1131)Atc>Gtc	p.I377V	PRKCD_ENST00000330452.3_Missense_Mutation_p.I377V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	377	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTACTTTGCCATCAAGGCCCT	0.597													False	0	False	3:53220225	0	G	53220225	A	G	53220225	3	3	88	1	0	0	0	0	1	0	0	0	12585	217	8	4	1171	4	PRKCD	3	53220225	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	264460	53220225	144802205	4083	11795											
TKT	7086	broad.mit.edu	37	chr3	53265481	53265481	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggatcttctttttgctctgGatctggctgtagatctcctg	10	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53265481G>A	ENST00000462138.1	-	7	922	c.834C>T	c.(832-834)atC>atT	p.I278I	TKT_ENST00000296289.6_Silent_p.I231I|TKT_ENST00000423525.2_Silent_p.I278I|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.I286I			P29401	TKT_HUMAN	transketolase	278					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TTTTGCTCTGGATCTGGCTGT	0.552													False	0	False	3:53265481	0	A	53265481	G	A	53265481	2	1	88	1	0	0	0	0	0	0	0	1	16016	1164	41	2		2	TKT	3	53265481	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45256	53265481	144756949	4084	11796											
TKT	7086	broad.mit.edu	37	chr3	53265548	53265548	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaggggcttcccatgccaaGactccttatcttctacccct	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53265548G>T	ENST00000462138.1	-	7	855	c.767C>A	c.(766-768)tCt>tAt	p.S256Y	TKT_ENST00000296289.6_Missense_Mutation_p.S209Y|TKT_ENST00000423525.2_Missense_Mutation_p.S256Y|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.S264Y			P29401	TKT_HUMAN	transketolase	256					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CCCATGCCAAGACTCCTTATC	0.562													False	0	False	3:53265548	0	T	53265548	G	T	53265548	3	4	88	1	0	0	0	0	1	0	0	0	16016	942	33	3	1136	3	TKT	3	53265548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	53265548	144756882	4085	11797											
CACNA1D	776	broad.mit.edu	37	chr3	53529248	53529248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcaacggcagcagcaagcgGaccacgcgaacggtgagcag	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53529248G>A	ENST00000288139.4	+	1	173	c.55G>A	c.(55-57)Gac>Aac	p.D19N	CACNA1D_ENST00000422281.2_Missense_Mutation_p.D19N|CACNA1D_ENST00000350061.5_Missense_Mutation_p.D19N	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCAGCAAGCGGACCACGCGAA	0.587													False	0	False	3:53529248	0	A	53529248	G	A	53529248	3	1	88	1	0	0	0	0	1	0	0	0	2561	1174	41	2	57	2	CACNA1D	3	53529248	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263700	53529248	144493182	4086	11798											
CACNA1D	776	broad.mit.edu	37	chr3	53684805	53684805	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctttgtttttcttcacaGgaaaaagtagaatatgcctt	6	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53684805G>T	ENST00000288139.4	+	4	601		c.e4-1		CACNA1D_ENST00000422281.2_Splice_Site|CACNA1D_ENST00000350061.5_Splice_Site	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTTCTTCACAGGAAAAAGTAG	0.358													False	0	False	3:53684805	0	T	53684805	G	T	53684805	5	4	88	1	0	0	0	0	0	0	1	0	2561	1014	35	3	497	3	CACNA1D	3	53684805	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155557	53684805	144337625	4087	11799											
CACNA1D	776	broad.mit.edu	37	chr3	53699719	53699719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaactccattataaaaGccatggttcccctccttcac	4	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53699719G>A	ENST00000288139.4	+	6	917	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	CACNA1D_ENST00000422281.2_Missense_Mutation_p.A267T|CACNA1D_ENST00000350061.5_Missense_Mutation_p.A267T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CATTATAAAAGCCATGGTTCC	0.333													False	0	True	3:53699719	0	A	53699719	G	A	53699719	3	1	88	1	0	0	0	0	1	0	0	0	2561	971	34	2	821	2	CACNA1D	3	53699719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14914	53699719	144322711	4088	11800											
CACNA1D	776	broad.mit.edu	37	chr3	53700441	53700441	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtactgccaatggcacggAatgtaggagtggctgggttg	17	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53700441A>C	ENST00000288139.4	+	7	1113	c.995A>C	c.(994-996)gAa>gCa	p.E332A	CACNA1D_ENST00000422281.2_Missense_Mutation_p.E332A|CACNA1D_ENST00000350061.5_Missense_Mutation_p.E332A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AATGGCACGGAATGTAGGAGT	0.527													False	0	False	3:53700441	0	C	53700441	A	C	53700441	3	2	88	1	0	0	0	0	1	0	0	0	2561	246	9	4	1021	4	CACNA1D	3	53700441	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	722	53700441	144321989	4089	11801											
CACNA1D	776	broad.mit.edu	37	chr3	53837449	53837449	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcctctctcccaactgcaGgtccgactcaggagatgaac	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53837449G>A	ENST00000288139.4	+	45	5613		c.e45-1		CACNA1D_ENST00000422281.2_Splice_Site|CACNA1D_ENST00000544977.1_Splice_Site|CACNA1D_ENST00000350061.5_Splice_Site	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCCAACTGCAGGTCCGACTCA	0.597													False	0	False	3:53837449	0	A	53837449	G	A	53837449	5	1	88	1	0	0	0	0	0	0	1	0	2561	1014	35	2	5781	2	CACNA1D	3	53837449	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137008	53837449	144184981	4090	11802											
CHDH	55349	broad.mit.edu	37	chr3	53853618	53853618	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcacttgggatggcaggaAatggaactggatgtccgggt	15	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53853618A>C	ENST00000315251.6	-	7	1641	c.1204T>G	c.(1204-1206)Ttc>Gtc	p.F402V		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase						alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GATGGCAGGAAATGGAACTGG	0.627													False	0	True	3:53853618	0	C	53853618	A	C	53853618	3	2	88	1	0	0	0	0	1	0	0	0	3356	14	1	4	592	4	CHDH	3	53853618	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16169	53853618	144168812	4091	11803											
ACTR8	93973	broad.mit.edu	37	chr3	53907062	53907062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatacctataagttacctgCagtttttcatctcctaatcg	5	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53907062C>T	ENST00000335754.3	-	9	1258	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L	ACTR8_ENST00000482349.1_Silent_p.L275L|ACTR8_ENST00000231909.7_Silent_p.L91L	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	386					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AAGTTACCTGCAGTTTTTCAT	0.428													False	0	False	3:53907062	0	T	53907062	C	T	53907062	2	4	88	1	0	0	0	0	0	0	0	1	217	697	25	2		2	ACTR8	3	53907062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53444	53907062	144115368	4092	11804											
ACTR8	93973	broad.mit.edu	37	chr3	53911410	53911410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccagtggattaacatacAaggcctagaaaaggaggagg	13	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53911410A>G	ENST00000335754.3	-	5	615	c.515T>C	c.(514-516)tTg>tCg	p.L172S	ACTR8_ENST00000482349.1_Missense_Mutation_p.L61S	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	172					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATTAACATACAAGGCCTAGAA	0.413													False	0	False	3:53911410	0	G	53911410	A	G	53911410	3	3	88	1	0	0	0	0	1	0	0	0	217	131	5	4	1395	4	ACTR8	3	53911410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4348	53911410	144111020	4093	11805											
CACNA2D3	55799	broad.mit.edu	37	chr3	54420803	54420803	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgatgcagacttacaggTaactgattatagtttgagtt	9	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:54420803T>C	ENST00000474759.1	+	4	429		c.e4+2		CACNA2D3_ENST00000490478.1_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site|CACNA2D3_ENST00000415676.2_Splice_Site	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GACTTACAGGTAACTGATTAT	0.383													False	0	False	3:54420803	0	C	54420803	T	C	54420803	5	2	88	1	0	0	0	0	0	0	1	0	2570	1652	57	4	397	4	CACNA2D3	3	54420803	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	509393	54420803	143601627	4094	11806											
CACNA2D3	55799	broad.mit.edu	37	chr3	55021769	55021769	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaattgctaacaatgggCtcctttaaaaggtaagggtt	9	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55021769C>T	ENST00000474759.1	+	31	2727	c.2679C>T	c.(2677-2679)ggC>ggT	p.G893G	CACNA2D3_ENST00000490478.1_Silent_p.G799G|CACNA2D3_ENST00000288197.5_Silent_p.G893G|CACNA2D3_ENST00000415676.2_Silent_p.G893G|CACNA2D3_ENST00000478261.1_3'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	893						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TAACAATGGGCTCCTTTAAAA	0.398													False	0	True	3:55021769	0	T	55021769	C	T	55021769	2	4	88	1	0	0	0	0	0	0	0	1	2570	784	28	2		2	CACNA2D3	3	55021769	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	600966	55021769	143000661	4095	11807											
CACNA2D3	55799	broad.mit.edu	37	chr3	55107828	55107828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatcccttaagtgtgaacGtctaaaggcccagaagatca	9	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55107828G>A	ENST00000474759.1	+	37	3173	c.3125G>A	c.(3124-3126)cGt>cAt	p.R1042H	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R948H|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R1042H|CACNA2D3_ENST00000478261.1_3'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1042						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAGTGTGAACGTCTAAAGGCC	0.423													False	0	False	3:55107828	0	A	55107828	G	A	55107828	3	1	88	1	0	0	0	0	1	0	0	0	2570	1145	40	1	3271	1	CACNA2D3	3	55107828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86059	55107828	142914602	4096	11808											
WNT5A	7474	broad.mit.edu	37	chr3	55504170	55504170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcacttcttgcacttgaCgtagcagcaccagtggaact	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55504170C>T	ENST00000474267.1	-	6	1614	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I	WNT5A_ENST00000264634.4_Missense_Mutation_p.V365I|WNT5A_ENST00000497027.1_Missense_Mutation_p.V350I			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	365					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V458L(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TTGCACTTGACGTAGCAGCAC	0.592													False	0	False	3:55504170	0	T	55504170	C	T	55504170	3	4	88	1	0	0	0	0	1	0	0	0	17475	536	19	1	53	1	WNT5A	3	55504170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396342	55504170	142518260	4097	11809											
WNT5A	7474	broad.mit.edu	37	chr3	55504215	55504215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagcgctccgtctgcaCggtcttgaactggtcgtagc	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55504215C>T	ENST00000474267.1	-	6	1569	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	WNT5A_ENST00000264634.4_Missense_Mutation_p.V350M|WNT5A_ENST00000497027.1_Missense_Mutation_p.V335M			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	350					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TCCGTCTGCACGGTCTTGAAC	0.612													False	0	False	3:55504215	0	T	55504215	C	T	55504215	3	4	88	1	0	0	0	0	1	0	0	0	17475	536	19	1	98	1	WNT5A	3	55504215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	55504215	142518215	4098	11810											
WNT5A	7474	broad.mit.edu	37	chr3	55508452	55508452	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggatgcgctcccgctcgcgGgcgtccacgaactccttggc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55508452G>T	ENST00000474267.1	-	5	1118	c.597C>A	c.(595-597)gcC>gcA	p.A199A	WNT5A_ENST00000264634.4_Silent_p.A199A|WNT5A_ENST00000497027.1_Silent_p.A184A			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	199					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CCCGCTCGCGGGCGTCCACGA	0.687													False	0	True	3:55508452	0	T	55508452	G	T	55508452	2	4	88	1	0	0	0	0	0	0	0	1	17475	1219	43	3		3	WNT5A	3	55508452	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4237	55508452	142513978	4099	11811											
ERC2	26059	broad.mit.edu	37	chr3	55768825	55768825	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttaattgatgtactagtcGgtctttttcccgcttgaggg	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55768825G>A	ENST00000288221.6	-	15	2941	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	896						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTACTAGTCGGTCTTTTTCC	0.478													False	0	False	3:55768825	0	A	55768825	G	A	55768825	4	1	88	1	0	0	0	0	0	1	0	0	5243	1124	39	1	199	1	ERC2	3	55768825	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260373	55768825	142253605	4100	11812											
ERC2	26059	broad.mit.edu	37	chr3	56044551	56044551	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttctcttttcggaaggattCtatctcttctagtctttccc	6	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56044551C>T	ENST00000288221.6	-	9	2101	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	616						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CGGAAGGATTCTATCTCTTCT	0.403													False	0	False	3:56044551	0	T	56044551	C	T	56044551	3	4	88	1	0	0	0	0	1	0	0	0	5243	922	32	2	1053	2	ERC2	3	56044551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275726	56044551	141977879	4101	11813											
ERC2	26059	broad.mit.edu	37	chr3	56330455	56330455	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagggcctggattgtcaaCtgtaggtgctgcaatgagaa	14	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56330455C>A	ENST00000288221.6	-	3	921	c.666G>T	c.(664-666)caG>caT	p.Q222H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	222						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGATTGTCAACTGTAGGTGCT	0.517													False	0	False	3:56330455	0	A	56330455	C	A	56330455	3	1	88	1	0	0	0	0	1	0	0	0	5243	564	20	3	2257	3	ERC2	3	56330455	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	285904	56330455	141691975	4102	11814											
ERC2	26059	broad.mit.edu	37	chr3	56468991	56468991	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaacgaggggatctggaAgggctaccttccagattggt	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56468991A>G	ENST00000288221.6	-	2	300	c.45T>C	c.(43-45)ccT>ccC	p.P15P		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	15						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGGATCTGGAAGGGCTACCTT	0.458													False	0	True	3:56468991	0	G	56468991	A	G	56468991	2	3	88	1	0	0	0	0	0	0	0	1	5243	59	3	4		4	ERC2	3	56468991	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	138536	56468991	141553439	4103	11815											
CCDC66	285331	broad.mit.edu	37	chr3	56653485	56653485	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatgttcgaacaaatgagatCtattaccttgatcccgatgc	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56653485C>T	ENST00000394672.3	+	16	2635	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	CCDC66_ENST00000326595.7_Silent_p.I821I|CCDC66_ENST00000436465.2_Silent_p.I855I	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	855										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAAATGAGATCTATTACCTTG	0.378													False	0	False	3:56653485	0	T	56653485	C	T	56653485	2	4	88	1	0	0	0	0	0	0	0	1	2859	903	32	2		2	CCDC66	3	56653485	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184494	56653485	141368945	4104	11816											
IL17RD	54756	broad.mit.edu	37	chr3	57132156	57132156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttctgctgccctgtcgCgtgtgctgccccggctcctg	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57132156C>T	ENST00000296318.7	-	12	1663	c.1575G>A	c.(1573-1575)acG>acA	p.T525T	IL17RD_ENST00000463523.1_Silent_p.T381T|IL17RD_ENST00000320057.5_Silent_p.T381T|IL17RD_ENST00000427856.2_Silent_p.T501T	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	525						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TGCCCTGTCGCGTGTGCTGCC	0.572													False	0	False	3:57132156	0	T	57132156	C	T	57132156	2	4	88	1	0	0	0	0	0	0	0	1	7692	755	27	1		1	IL17RD	3	57132156	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	478671	57132156	140890274	4105	11817											
HESX1	8820	broad.mit.edu	37	chr3	57232919	57232919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcattgggtgatccaccacGctagggaatgaaatcccact	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57232919G>A	ENST00000295934.3	-	2	255	c.219C>T	c.(217-219)agC>agT	p.S73S	HESX1_ENST00000473921.1_Silent_p.S73S	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	73						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		GATCCACCACGCTAGGGAATG	0.393													False	0	False	3:57232919	0	A	57232919	G	A	57232919	2	1	88	1	0	0	0	0	0	0	0	1	7119	1078	38	1		1	HESX1	3	57232919	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100763	57232919	140789511	4106	11818											
APPL1	26060	broad.mit.edu	37	chr3	57294725	57294725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctttttggatttgttcttCggacatcaagcgggagaagt	12	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57294725C>T	ENST00000288266.3	+	19	1912	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	589	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		ATTTGTTCTTCGGACATCAAG	0.393													False	0	False	3:57294725	0	T	57294725	C	T	57294725	3	4	88	1	0	0	0	0	1	0	0	0	819	875	31	1	1839	1	APPL1	3	57294725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61806	57294725	140727705	4107	11819											
DNAH12	201625	broad.mit.edu	37	chr3	57493472	57493472	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagagatttataaccttTggataccatgtattcattat	6	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57493472T>G	ENST00000351747.2	-	8	975	c.795A>C	c.(793-795)ccA>ccC	p.P265P	DNAH12_ENST00000389536.4_Silent_p.P265P|DNAH12_ENST00000311202.6_Silent_p.P265P	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	265	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTATAACCTTTGGATACCATG	0.343													False	0	True	3:57493472	0	G	57493472	T	G	57493472	2	3	88	1	0	0	0	0	0	0	0	1	4630	1799	63	4		4	DNAH12	3	57493472	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	198747	57493472	140528958	4108	11820											
DNAH12	201625	broad.mit.edu	37	chr3	57494904	57494904	+	Missense_Mutation	SNP	G	G	A													aggacctccttcatcttcaaGcgatttaactggtggtttca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57494904G>A	ENST00000351747.2	-	6	685	c.505C>T	c.(505-507)Ctt>Ttt	p.L169F	DNAH12_ENST00000389536.4_Missense_Mutation_p.L169F|DNAH12_ENST00000311202.6_Missense_Mutation_p.L169F	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	169	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCATCTTCAAGCGATTTAACT	0.308													False	0	False	3:57494904	0	A	57494904	G	A	57494904	3	1	88	1	0	0	0	0	1	0	0	0	4630	971	34	2	9032	2	DNAH12	3	57494904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1432	57494904	140527526	4109	11821	165	2									
DNAH12	201625	broad.mit.edu	37	chr3	57494905	57494905	+	Silent	SNP	C	C	T													ggacctccttcatcttcaagCgatttaactggtggtttcac					rs150553536		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57494905C>T	ENST00000351747.2	-	6	684	c.504G>A	c.(502-504)tcG>tcA	p.S168S	DNAH12_ENST00000389536.4_Silent_p.S168S|DNAH12_ENST00000311202.6_Silent_p.S168S	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	168	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CATCTTCAAGCGATTTAACTG	0.308													False	0	False	3:57494905	0	T	57494905	C	T	57494905	2	4	88	1	0	0	0	0	0	0	0	1	4630	755	27	1		1	DNAH12	3	57494905	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	57494905	140527525	4110	11822	165	2									
DNAH12	201625	broad.mit.edu	37	chr3	57496520	57496520	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttagatgctacttacccaAatatctcttcatgctgtttt	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57496520A>G	ENST00000351747.2	-	5	646	c.466T>C	c.(466-468)Ttg>Ctg	p.L156L	DNAH12_ENST00000389536.4_Silent_p.L156L|DNAH12_ENST00000311202.6_Silent_p.L156L	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	156	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TACTTACCCAAATATCTCTTC	0.398													False	0	True	3:57496520	0	G	57496520	A	G	57496520	2	3	88	1	0	0	0	0	0	0	0	1	4630	11	1	4		4	DNAH12	3	57496520	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1615	57496520	140525910	4111	11823											
ARF4	378	broad.mit.edu	37	chr3	57561333	57561333	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatttcactgatggccataGcatttggcaaatcctgtttg	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57561333G>T	ENST00000303436.6	-	5	665	c.398C>A	c.(397-399)gCt>gAt	p.A133D	ARF4_ENST00000489843.1_Missense_Mutation_p.A24D|ARF4_ENST00000496292.1_Missense_Mutation_p.A106D	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	133					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		GATGGCCATAGCATTTGGCAA	0.383													False	0	False	3:57561333	0	T	57561333	G	T	57561333	3	4	88	1	0	0	0	0	1	0	0	0	848	971	34	3	152	3	ARF4	3	57561333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64813	57561333	140461097	4112	11824											
FLNB	2317	broad.mit.edu	37	chr3	58084521	58084521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgtggaagacaaaggaAaccaggtgtatcgatgtgtg	14	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58084521A>G	ENST00000357272.4	+	8	1396	c.1231A>G	c.(1231-1233)Aac>Gac	p.N411D	FLNB_ENST00000429972.2_Missense_Mutation_p.N411D|FLNB_ENST00000348383.5_Missense_Mutation_p.N411D|FLNB_ENST00000490882.1_Missense_Mutation_p.N411D|FLNB_ENST00000493452.1_Missense_Mutation_p.N242D|FLNB_ENST00000419752.2_Missense_Mutation_p.N242D|FLNB_ENST00000295956.4_Missense_Mutation_p.N411D|FLNB_ENST00000358537.3_Missense_Mutation_p.N411D			O75369	FLNB_HUMAN	filamin B, beta	411					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGACAAAGGAAACCAGGTGTA	0.522													False	0	True	3:58084521	0	G	58084521	A	G	58084521	3	3	88	1	0	0	0	0	1	0	0	0	5974	14	1	4	1261	4	FLNB	3	58084521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	523188	58084521	139937909	4113	11825											
DNASE1L3	1776	broad.mit.edu	37	chr3	58183663	58183663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaggccttcttggggaCgtagctgcagccggcattga	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58183663C>T	ENST00000483681.1	-	8	1170	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V197I|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.V197I|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V167I			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	197					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TTCTTGGGGACGTAGCTGCAG	0.512													False	0	False	3:58183663	0	T	58183663	C	T	58183663	3	4	88	1	0	0	0	0	1	0	0	0	4693	536	19	1	340	1	DNASE1L3	3	58183663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99142	58183663	139838767	4114	11826											
ABHD6	57406	broad.mit.edu	37	chr3	58252923	58252923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccccttccaggtactggCggaggacattgggcatgcaa	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58252923C>T	ENST00000478253.1	+	4	628	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ABHD6_ENST00000295962.4_Missense_Mutation_p.R43W			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	43						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CAGGTACTGGCGGAGGACATT	0.493													False	0	False	3:58252923	0	T	58252923	C	T	58252923	3	4	88	1	0	0	0	0	1	0	0	0	86	759	27	1	133	1	ABHD6	3	58252923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69260	58252923	139769507	4115	11827											
ABHD6	57406	broad.mit.edu	37	chr3	58260429	58260429	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatttgtacaacggctcaaaGaactgcagggctctgccgcc	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58260429G>T	ENST00000478253.1	+	7	1069	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	ABHD6_ENST00000295962.4_Nonsense_Mutation_p.E190*			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	190						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ACGGCTCAAAGAACTGCAGGG	0.493													False	0	True	3:58260429	0	T	58260429	G	T	58260429	4	4	88	1	0	0	0	0	0	1	0	0	86	943	33	3	586	3	ABHD6	3	58260429	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7506	58260429	139762001	4116	11828											
PXK	54899	broad.mit.edu	37	chr3	58383343	58383343	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccacagacattggaaagTgtggatgtccactgctttgg	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58383343T>C	ENST00000463280.1	+	9	988	c.897T>C	c.(895-897)agT>agC	p.S299S	PXK_ENST00000536660.1_Silent_p.S195S|PXK_ENST00000356151.2_Silent_p.S332S|PXK_ENST00000302779.5_Silent_p.S315S|PXK_ENST00000383716.3_Silent_p.S299S|PXK_ENST00000484288.1_Silent_p.S332S|PXK_ENST00000383715.4_Silent_p.S315S|PXK_ENST00000479241.1_Silent_p.S315S			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	332	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CATTGGAAAGTGTGGATGTCC	0.542													False	0	False	3:58383343	0	C	58383343	T	C	58383343	2	2	88	1	0	0	0	0	0	0	0	1	12928	1693	59	4		4	PXK	3	58383343	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	122914	58383343	139639087	4117	11829											
PXK	54899	broad.mit.edu	37	chr3	58395340	58395340	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaaagaaagattttagctCgaaaggtaagcctgctgtct	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58395340C>T	ENST00000463280.1	+	13	1382	c.1291C>T	c.(1291-1293)Cga>Tga	p.R431*	PXK_ENST00000536660.1_Nonsense_Mutation_p.R327*|PXK_ENST00000356151.2_Nonsense_Mutation_p.R464*|PXK_ENST00000302779.5_Nonsense_Mutation_p.R447*|PXK_ENST00000383716.3_Nonsense_Mutation_p.R431*|PXK_ENST00000484288.1_Nonsense_Mutation_p.R464*|PXK_ENST00000383715.4_Nonsense_Mutation_p.R447*|PXK_ENST00000479241.1_Nonsense_Mutation_p.R447*			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	464	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GATTTTAGCTCGAAAGGTAAG	0.418													False	0	False	3:58395340	0	T	58395340	C	T	58395340	4	4	88	1	0	0	0	0	0	1	0	0	12928	876	31	1	1448	1	PXK	3	58395340	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11997	58395340	139627090	4118	11830											
KCTD6	200845	broad.mit.edu	37	chr3	58486991	58486991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctttgtatcccatggatActtttgaagaagttgtggag	11	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58486991A>G	ENST00000355076.6	+	2	1329	c.346A>G	c.(346-348)Act>Gct	p.T116A	KCTD6_ENST00000404589.3_Missense_Mutation_p.T116A|KCTD6_ENST00000490264.1_Missense_Mutation_p.T116A	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	116						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TCCCATGGATACTTTTGAAGA	0.418													False	0	False	3:58486991	0	G	58486991	A	G	58486991	3	3	88	1	0	0	0	0	1	0	0	0	8163	391	14	4	352	4	KCTD6	3	58486991	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91651	58486991	139535439	4119	11831											
KCTD6	200845	broad.mit.edu	37	chr3	58487184	58487184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaggtttcctttacttttgGaccctgtgattatcaccagg	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58487184G>A	ENST00000355076.6	+	2	1522	c.539G>A	c.(538-540)gGa>gAa	p.G180E	KCTD6_ENST00000404589.3_Missense_Mutation_p.G180E|KCTD6_ENST00000490264.1_Missense_Mutation_p.G180E	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	180						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TTTACTTTTGGACCCTGTGAT	0.438													False	0	False	3:58487184	0	A	58487184	G	A	58487184	3	1	88	1	0	0	0	0	1	0	0	0	8163	1174	41	2	545	2	KCTD6	3	58487184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193	58487184	139535246	4120	11832											
ACOX2	8309	broad.mit.edu	37	chr3	58512232	58512232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactgtgttctcaccctcgTaggtacaggaggccgacaat	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58512232T>C	ENST00000302819.5	-	10	1598	c.1307A>G	c.(1306-1308)tAc>tGc	p.Y436C	ACOX2_ENST00000459701.2_Missense_Mutation_p.Y422C	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	436					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTCACCCTCGTAGGTACAGGA	0.602													False	0	False	3:58512232	0	C	58512232	T	C	58512232	3	2	88	1	0	0	0	0	1	0	0	0	159	1638	57	4	762	4	ACOX2	3	58512232	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25048	58512232	139510198	4121	11833											
FAM3D	131177	broad.mit.edu	37	chr3	58622881	58622881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacttacttggtccctggatCgtcgtaggaggccaccagca	11	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58622881C>T	ENST00000358781.2	-	8	755	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	149					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GTCCCTGGATCGTCGTAGGAG	0.507													False	0	False	3:58622881	0	T	58622881	C	T	58622881	3	4	88	1	0	0	0	0	1	0	0	0	5599	884	31	1	241	1	FAM3D	3	58622881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110649	58622881	139399549	4122	11834											
C3orf67	200844	broad.mit.edu	37	chr3	58739540	58739540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctggacgctgctcagccGgctgttgactgggaggaacg	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58739540G>A	ENST00000295966.7	-	15	2038	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	C3orf67_ENST00000482387.1_Missense_Mutation_p.P638L	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	504										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTGCTCAGCCGGCTGTTGACT	0.378													False	0	False	3:58739540	0	A	58739540	G	A	58739540	3	1	88	1	0	0	0	0	1	0	0	0	2257	1116	39	1	164	1	C3orf67	3	58739540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116659	58739540	139282890	4123	11835											
C3orf67	200844	broad.mit.edu	37	chr3	58855183	58855183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagtggacggctggcatgAtcggttatttttggacccaa	12	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58855183A>G	ENST00000472469.1	-	8	1109	c.271T>C	c.(271-273)Tca>Cca	p.S91P	RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.S171P|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.S171P|RP11-147N17.1_ENST00000482372.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GGCTGGCATGATCGGTTATTT	0.368													False	0	False	3:58855183	0	G	58855183	A	G	58855183	3	3	88	1	0	0	0	0	1	0	0	0	2257	333	12	4	1212	4	C3orf67	3	58855183	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115643	58855183	139167247	4124	11836											
PTPRG	5793	broad.mit.edu	37	chr3	61989075	61989075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggagctggtctacctggCagattcaaagctgagaaggt	14	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:61989075C>T	ENST00000474889.1	+	4	800	c.423C>T	c.(421-423)ggC>ggT	p.G141G	PTPRG_ENST00000295874.10_Silent_p.G141G	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	141	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GTCTACCTGGCAGATTCAAAG	0.478													False	0	False	3:61989075	0	T	61989075	C	T	61989075	2	4	88	1	0	0	0	0	0	0	0	1	12881	697	25	2		2	PTPRG	3	61989075	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3133892	61989075	136033355	4125	11837											
PTPRG	5793	broad.mit.edu	37	chr3	62153813	62153813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagacttcttagaaaacCcactggggacagaagcctct	9	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62153813C>T	ENST00000474889.1	+	8	1386	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	PTPRG_ENST00000295874.10_Missense_Mutation_p.P337S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	337					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTAGAAAACCCACTGGGGAC	0.448													False	0	True	3:62153813	0	T	62153813	C	T	62153813	3	4	88	1	0	0	0	0	1	0	0	0	12881	623	22	2	1039	2	PTPRG	3	62153813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164738	62153813	135868617	4126	11838											
PTPRG	5793	broad.mit.edu	37	chr3	62259478	62259478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttaacagcatccttataCcaggagtaggaggaaagaca	10	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62259478C>T	ENST00000474889.1	+	23	3801	c.3424C>T	c.(3424-3426)Cca>Tca	p.P1142S	PTPRG_ENST00000295874.10_Missense_Mutation_p.P1113S|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1142					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CATCCTTATACCAGGAGTAGG	0.393													False	0	False	3:62259478	0	T	62259478	C	T	62259478	3	4	88	1	0	0	0	0	1	0	0	0	12881	507	18	2	3514	2	PTPRG	3	62259478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105665	62259478	135762952	4127	11839											
FEZF2	55079	broad.mit.edu	37	chr3	62356929	62356929	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgccgcaaaattcgcagacGaagggcttgtagcccgcgtg	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62356929G>A	ENST00000283268.3	-	4	1377	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	FEZF2_ENST00000486811.1_Silent_p.F361F|FEZF2_ENST00000475839.1_Silent_p.F361F	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	361					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		ATTCGCAGACGAAGGGCTTGT	0.572													False	0	False	3:62356929	0	A	62356929	G	A	62356929	2	1	88	1	0	0	0	0	0	0	0	1	5866	1049	37	1		1	FEZF2	3	62356929	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97451	62356929	135665501	4128	11840											
FEZF2	55079	broad.mit.edu	37	chr3	62357998	62357998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccgctgaggagctcagaCggcgggtacgcggtcgagtc	18	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62357998C>T	ENST00000283268.3	-	2	840	c.546G>A	c.(544-546)ccG>ccA	p.P182P	FEZF2_ENST00000486811.1_Silent_p.P182P|FEZF2_ENST00000475839.1_Silent_p.P182P	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	182					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GGAGCTCAGACGGCGGGTACG	0.662													False	0	False	3:62357998	0	T	62357998	C	T	62357998	2	4	88	1	0	0	0	0	0	0	0	1	5866	523	19	1		1	FEZF2	3	62357998	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1069	62357998	135664432	4129	11841											
CADPS	8618	broad.mit.edu	37	chr3	62631410	62631410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttacgttggtttagaagCctcggcctgatcagtctgta	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62631410C>T	ENST00000383710.4	-	6	1661	c.1312G>A	c.(1312-1314)Gct>Act	p.A438T	CADPS_ENST00000357948.3_Missense_Mutation_p.A438T|CADPS_ENST00000283269.9_Missense_Mutation_p.A438T|CADPS_ENST00000490353.2_Missense_Mutation_p.A438T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	438	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGTTTAGAAGCCTCGGCCTGA	0.453													False	0	False	3:62631410	0	T	62631410	C	T	62631410	3	4	88	1	0	0	0	0	1	0	0	0	2590	739	26	2	2922	2	CADPS	3	62631410	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	273412	62631410	135391020	4130	11842											
SYNPR	132204	broad.mit.edu	37	chr3	63600932	63600932	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaactttattctctgggcTggaaacatatggtttgtttt	9	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63600932T>C	ENST00000478300.1	+	6	1044	c.633T>C	c.(631-633)gcT>gcC	p.A211A	SYNPR_ENST00000465156.1_Silent_p.A127A|SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000295894.5_Silent_p.A191A|SYNPR_ENST00000460711.1_Silent_p.A202A	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	191	5 X approximate repeats.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TTCTCTGGGCTGGAAACATAT	0.398													False	0	False	3:63600932	0	C	63600932	T	C	63600932	2	2	88	1	0	0	0	0	0	0	0	1	15541	1567	55	4		4	SYNPR	3	63600932	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	969522	63600932	134421498	4131	11843											
THOC7	80145	broad.mit.edu	37	chr3	63823667	63823667	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccttggcgattttttcGtattcgttttgcttgaagaa	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63823667G>A	ENST00000295899.5	-	4	449	c.337C>T	c.(337-339)Cga>Tga	p.R113*	THOC7_ENST00000498422.1_5'UTR|C3orf49_ENST00000295896.8_Intron	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	113	Interaction with NIF3L1.|Interaction with THOC5.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		CGATTTTTTCGTATTCGTTTT	0.328													False	0	False	3:63823667	0	A	63823667	G	A	63823667	4	1	88	1	0	0	0	0	0	1	0	0	15952	1153	40	1	297	1	THOC7	3	63823667	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222735	63823667	134198763	4132	11844											
ATXN7	6314	broad.mit.edu	37	chr3	63973863	63973863	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggactctcagcaaccaccGcagcctctcagggacccgca	9	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63973863G>A	ENST00000398590.3	+	9	1777	c.1224G>A	c.(1222-1224)ccG>ccA	p.P408P	ATXN7_ENST00000487717.1_Silent_p.P408P|ATXN7_ENST00000484332.1_Silent_p.P263P|ATXN7_ENST00000538065.1_Silent_p.P408P|ATXN7_ENST00000295900.6_Silent_p.P408P	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	408	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AGCAACCACCGCAGCCTCTCA	0.517													False	0	False	3:63973863	0	A	63973863	G	A	63973863	2	1	88	1	0	0	0	0	0	0	0	1	1219	1074	38	1		1	ATXN7	3	63973863	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150196	63973863	134048567	4133	11845											
ATXN7	6314	broad.mit.edu	37	chr3	63981390	63981390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaaatgcacagcctgctgCttcaggggcgatggatcctg	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63981390C>T	ENST00000398590.3	+	12	2445	c.1892C>T	c.(1891-1893)gCt>gTt	p.A631V	ATXN7_ENST00000487717.1_Missense_Mutation_p.A631V|ATXN7_ENST00000484332.1_Missense_Mutation_p.A486V|ATXN7_ENST00000538065.1_Missense_Mutation_p.A631V|ATXN7_ENST00000295900.6_Missense_Mutation_p.A631V	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	631					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CAGCCTGCTGCTTCAGGGGCG	0.542													False	0	False	3:63981390	0	T	63981390	C	T	63981390	3	4	88	1	0	0	0	0	1	0	0	0	1219	797	28	2	1998	2	ATXN7	3	63981390	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7527	63981390	134041040	4134	11846											
ATXN7	6314	broad.mit.edu	37	chr3	63981756	63981756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccctcaacggtaacatcttCccatagcatcggcctcaact	5	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63981756C>T	ENST00000398590.3	+	12	2811	c.2258C>T	c.(2257-2259)tCc>tTc	p.S753F	ATXN7_ENST00000487717.1_Missense_Mutation_p.S753F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S608F|ATXN7_ENST00000538065.1_Missense_Mutation_p.S753F|ATXN7_ENST00000295900.6_Missense_Mutation_p.S753F	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	753	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GTAACATCTTCCCATAGCATC	0.557													False	0	True	3:63981756	0	T	63981756	C	T	63981756	3	4	88	1	0	0	0	0	1	0	0	0	1219	855	30	2	2364	2	ATXN7	3	63981756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	366	63981756	134040674	4135	11847											
PRICKLE2	166336	broad.mit.edu	37	chr3	64084844	64084844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttgtgcagcagctcatcGcttgtgacgtatcgcaggcg	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64084844G>A	ENST00000295902.6	-	8	3003	c.2418C>T	c.(2416-2418)agC>agT	p.S806S	PRICKLE2_ENST00000564377.1_Silent_p.S862S|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	806						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCAGCTCATCGCTTGTGACGT	0.537													False	0	False	3:64084844	0	A	64084844	G	A	64084844	2	1	88	1	0	0	0	0	0	0	0	1	12563	1078	38	1		1	PRICKLE2	3	64084844	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103088	64084844	133937586	4136	11848											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085074	64085074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctctcctggaagctccGctggcgcataaattggtcat	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085074G>A	ENST00000295902.6	-	8	2773	c.2188C>T	c.(2188-2190)Cgg>Tgg	p.R730W	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R786W|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	730	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGGAAGCTCCGCTGGCGCATA	0.617													False	0	False	3:64085074	0	A	64085074	G	A	64085074	3	1	88	1	0	0	0	0	1	0	0	0	12563	1086	38	1	350	1	PRICKLE2	3	64085074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230	64085074	133937356	4137	11849											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085153	64085153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagatggcctcgcgttcGctggccaggtggagggcgtt	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085153G>A	ENST00000295902.6	-	8	2694	c.2109C>T	c.(2107-2109)agC>agT	p.S703S	PRICKLE2_ENST00000564377.1_Silent_p.S759S|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	703	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCTCGCGTTCGCTGGCCAGGT	0.617													False	0	False	3:64085153	0	A	64085153	G	A	64085153	2	1	88	1	0	0	0	0	0	0	0	1	12563	1078	38	1		1	PRICKLE2	3	64085153	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	64085153	133937277	4138	11850											
PRICKLE2	166336	broad.mit.edu	37	chr3	64085191	64085191	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcggagcgagagcgtcGggaacgcctggacctgtgag	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085191G>A	ENST00000295902.6	-	8	2656	c.2071C>T	c.(2071-2073)Cga>Tga	p.R691*	PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R747*|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	691	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CGAGAGCGTCGGGAACGCCTG	0.632													False	0	True	3:64085191	0	A	64085191	G	A	64085191	4	1	88	1	0	0	0	0	0	1	0	0	12563	1124	39	1	467	1	PRICKLE2	3	64085191	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	64085191	133937239	4139	11851											
PRICKLE2	166336	broad.mit.edu	37	chr3	64138976	64138976	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagcactgtctcacactcGaagcagcaaaagtgtttcat	7	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64138976G>A	ENST00000295902.6	-	6	1254	c.669C>T	c.(667-669)ttC>ttT	p.F223F	PRICKLE2_ENST00000564377.1_Silent_p.F279F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	223	LIM zinc-binding 2.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCTCACACTCGAAGCAGCAAA	0.512													False	0	False	3:64138976	0	A	64138976	G	A	64138976	2	1	88	1	0	0	0	0	0	0	0	1	12563	1049	37	1		1	PRICKLE2	3	64138976	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53785	64138976	133883454	4140	11852											
ADAMTS9	56999	broad.mit.edu	37	chr3	64536704	64536704	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccacacacaccaccttgCggtacctggagccttcgccg	8	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64536704C>A	ENST00000498707.1	-	31	5075	c.4733G>T	c.(4732-4734)cGc>cTc	p.R1578L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1550L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1578	TSP type-1 13.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACCACCTTGCGGTACCTGGA	0.498													False	0	False	3:64536704	0	A	64536704	C	A	64536704	3	1	88	1	0	0	0	0	1	0	0	0	273	768	27	3	1110	3	ADAMTS9	3	64536704	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	397728	64536704	133485726	4141	11853											
MAGI1	9223	broad.mit.edu	37	chr3	65342481	65342481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccgcttctctggggaccGcctcttggggccgttggcgg	15	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65342481G>A	ENST00000402939.2	-	23	3960	c.3961C>T	c.(3961-3963)Cgg>Tgg	p.R1321W	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1350					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCTGGGGACCGCCTCTTGGGG	0.711													False	0	False	3:65342481	0	A	65342481	G	A	65342481	3	1	88	1	0	0	0	0	1	0	0	0	9257	1086	38	1	431	1	MAGI1	3	65342481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	805777	65342481	132679949	4142	11854											
MAGI1	9223	broad.mit.edu	37	chr3	65415781	65415781	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatgtgtgtgtcccaaAacacaggtgtcattcacact	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65415781A>C	ENST00000330909.8	-	12	1580	c.1581T>G	c.(1579-1581)gtT>gtG	p.V527V	MAGI1_ENST00000483466.1_Silent_p.V527V|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.V527V|MAGI1_ENST00000497477.2_Silent_p.V527V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	527	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGTGTCCCAAAACACAGGTGT	0.458													False	0	True	3:65415781	0	C	65415781	A	C	65415781	2	2	88	1	0	0	0	0	0	0	0	1	9257	1	1	4		4	MAGI1	3	65415781	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73300	65415781	132606649	4143	11855											
MAGI1	9223	broad.mit.edu	37	chr3	65479270	65479270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaaagttatagtccacgCcaggcacttctccttctctg	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65479270C>T	ENST00000330909.8	-	3	466	c.467G>A	c.(466-468)gGc>gAc	p.G156D	MAGI1_ENST00000483466.1_Missense_Mutation_p.G156D|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.G156D|MAGI1_ENST00000497477.2_Missense_Mutation_p.G156D	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	156	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATAGTCCACGCCAGGCACTTC	0.478													False	0	False	3:65479270	0	T	65479270	C	T	65479270	3	4	88	1	0	0	0	0	1	0	0	0	9257	739	26	2	4239	2	MAGI1	3	65479270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63489	65479270	132543160	4144	11856											
SLC25A26	115286	broad.mit.edu	37	chr3	66313765	66313765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtttcagggtatccaaGggttgtatcgaggctataaa	12	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66313765G>A	ENST00000354883.6	+	6	1143	c.415G>A	c.(415-417)Ggg>Agg	p.G139R	SLC25A26_ENST00000413054.1_Missense_Mutation_p.G51R|SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000336733.6_Missense_Mutation_p.G51R			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	139						integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		GGGTATCCAAGGGTTGTATCG	0.388													False	0	True	3:66313765	0	A	66313765	G	A	66313765	3	1	88	1	0	0	0	0	1	0	0	0	14569	1000	35	2	235	2	SLC25A26	3	66313765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	834495	66313765	131708665	4145	11857											
LRIG1	26018	broad.mit.edu	37	chr3	66431186	66431186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttggcgcacttggctgtGcgctgtctctggacacaggc	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66431186G>A	ENST00000383703.3	-	19	3404	c.2801C>T	c.(2800-2802)gCa>gTa	p.A934V	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.A957V			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	957						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACTTGGCTGTGCGCTGTCTCT	0.632													False	0	False	3:66431186	0	A	66431186	G	A	66431186	3	1	88	1	0	0	0	0	1	0	0	0	9006	1319	46	2	419	2	LRIG1	3	66431186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117421	66431186	131591244	4146	11858											
LRIG1	26018	broad.mit.edu	37	chr3	66436706	66436706	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttctggctgggtgatgatCtgtggcttcaggaagtcatc	14	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66436706C>T	ENST00000383703.3	-	14	2163	c.1560G>A	c.(1558-1560)caG>caA	p.Q520Q	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_Silent_p.Q496Q			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	496	Ig-like C2-type 1.|Poly-Ser.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGGTGATGATCTGTGGCTTCA	0.537													False	0	False	3:66436706	0	T	66436706	C	T	66436706	2	4	88	1	0	0	0	0	0	0	0	1	9006	912	32	2		2	LRIG1	3	66436706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5520	66436706	131585724	4147	11859											
LRIG1	26018	broad.mit.edu	37	chr3	66467583	66467583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcggtccgtgtggaaagCaggtgttccgcacttccgtg	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66467583C>T	ENST00000383703.3	-	4	1076	c.473G>A	c.(472-474)tGc>tAc	p.C158Y	LRIG1_ENST00000273261.3_Missense_Mutation_p.C158Y			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	158						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTGTGGAAAGCAGGTGTTCCG	0.552													False	0	False	3:66467583	0	T	66467583	C	T	66467583	3	4	88	1	0	0	0	0	1	0	0	0	9006	710	25	2	2872	2	LRIG1	3	66467583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30877	66467583	131554847	4148	11860											
KBTBD8	84541	broad.mit.edu	37	chr3	67054530	67054530	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accatccttgcttcgagccaGaataggctgcaaacttgtct	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:67054530G>T	ENST00000295568.4	+	3	1192	c.1061G>T	c.(1060-1062)aGa>aTa	p.R354I	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.R380I	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	380										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CTTCGAGCCAGAATAGGCTGC	0.433													False	0	False	3:67054530	0	T	67054530	G	T	67054530	3	4	88	1	0	0	0	0	1	0	0	0	8049	942	33	3	1149	3	KBTBD8	3	67054530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	586947	67054530	130967900	4149	11861											
KBTBD8	84541	broad.mit.edu	37	chr3	67058487	67058487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgtggaaatcatcaacGtatgtttactgtagaagcct	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:67058487G>A	ENST00000295568.4	+	4	1537	c.1406G>A	c.(1405-1407)cGt>cAt	p.R469H	KBTBD8_ENST00000460576.1_Missense_Mutation_p.R53H|KBTBD8_ENST00000417314.2_Missense_Mutation_p.R495H	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	495										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AATCATCAACGTATGTTTACT	0.403													False	0	False	3:67058487	0	A	67058487	G	A	67058487	3	1	88	1	0	0	0	0	1	0	0	0	8049	1145	40	1	1498	1	KBTBD8	3	67058487	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3957	67058487	130963943	4150	11862											
TMF1	7110	broad.mit.edu	37	chr3	69087861	69087861	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcattggctttgtgaagatCagtaagttctcttaaaaaat	8	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69087861C>A	ENST00000543976.1	-	8	2260	c.2014G>T	c.(2014-2016)Gat>Tat	p.D672Y	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D669Y|CTD-2013N24.2_ENST00000596523.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	669					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTGTGAAGATCAGTAAGTTCT	0.358													False	0	False	3:69087861	0	A	69087861	C	A	69087861	3	1	88	1	0	0	0	0	1	0	0	0	16310	826	29	3	1316	3	TMF1	3	69087861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2029374	69087861	128934569	4151	11863											
LMOD3	56203	broad.mit.edu	37	chr3	69168087	69168087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgtacttcggggcctgCgatggctttttcatcatttc	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69168087C>T	ENST00000420581.2	-	2	1598	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	LMOD3_ENST00000475434.1_Silent_p.S473S|LMOD3_ENST00000489031.1_Silent_p.S473S	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	473						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCGGGGCCTGCGATGGCTTTT	0.557													False	0	False	3:69168087	0	T	69168087	C	T	69168087	2	4	88	1	0	0	0	0	0	0	0	1	8911	755	27	1		1	LMOD3	3	69168087	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80226	69168087	128854343	4152	11864											
LMOD3	56203	broad.mit.edu	37	chr3	69169146	69169146	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcattattgagcttttcTtttaaatactgggccatatt	5	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69169146T>G	ENST00000420581.2	-	2	539	c.360A>C	c.(358-360)aaA>aaC	p.K120N	LMOD3_ENST00000475434.1_Missense_Mutation_p.K120N|LMOD3_ENST00000489031.1_Missense_Mutation_p.K120N	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	120	Glu-rich.					cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TGAGCTTTTCTTTTAAATACT	0.328													False	0	True	3:69169146	0	G	69169146	T	G	69169146	3	3	88	1	0	0	0	0	1	0	0	0	8911	1606	56	4	1330	4	LMOD3	3	69169146	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1059	69169146	128853284	4153	11865											
FRMD4B	23150	broad.mit.edu	37	chr3	69230103	69230103	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaaggtacttgcagccccGcaaaccccaggcatctctgt	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69230103G>T	ENST00000542259.1	-	22	3087	c.2636C>A	c.(2635-2637)gCg>gAg	p.A879E	FRMD4B_ENST00000478263.1_Missense_Mutation_p.A585E|FRMD4B_ENST00000398540.3_Missense_Mutation_p.A933E			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	933						cytoplasm|cytoskeleton	binding	p.A879V(2)|p.A933V(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTGCAGCCCCGCAAACCCCAG	0.542													False	0	True	3:69230103	0	T	69230103	G	T	69230103	3	4	88	1	0	0	0	0	1	0	0	0	6094	1087	38	3	318	3	FRMD4B	3	69230103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60957	69230103	128792327	4154	11866											
MITF	4286	broad.mit.edu	37	chr3	69928347	69928347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccagtatgacatcacGcatcttgctacgccagcaac	6	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69928347G>A	ENST00000352241.4	+	2	330	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MITF_ENST00000448226.2_Missense_Mutation_p.R56H|MITF_ENST00000394355.2_Missense_Mutation_p.R31H|MITF_ENST00000328528.6_Missense_Mutation_p.R55H|MITF_ENST00000472437.1_Missense_Mutation_p.R4H|MITF_ENST00000314589.5_Missense_Mutation_p.R40H	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	56					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATGACATCACGCATCTTGCTA	0.557			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						False	0	False	3:69928347	0	A	69928347	G	A	69928347	3	1	88	1	0	0	0	0	1	0	0	0	9663	1087	38	1	338	1	MITF	3	69928347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	698244	69928347	128094083	4155	11867											
MITF	4286	broad.mit.edu	37	chr3	69990401	69990401	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacagatggatgatgtaatCgatgacatcattagcctaga	9	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69990401C>T	ENST00000352241.4	+	5	844	c.681C>T	c.(679-681)atC>atT	p.I227I	MITF_ENST00000448226.2_Silent_p.I227I|MITF_ENST00000531774.1_Silent_p.I64I|MITF_ENST00000394355.2_Silent_p.I202I|MITF_ENST00000394351.3_Silent_p.I120I|MITF_ENST00000328528.6_Silent_p.I226I|MITF_ENST00000472437.1_Silent_p.I175I|MITF_ENST00000314557.6_Silent_p.I120I|MITF_ENST00000314589.5_Silent_p.I211I	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	227	Transactivation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATGATGTAATCGATGACATCA	0.343			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						False	0	False	3:69990401	0	T	69990401	C	T	69990401	2	4	88	1	0	0	0	0	0	0	0	1	9663	874	31	1		1	MITF	3	69990401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62054	69990401	128032029	4156	11868											
MITF	4286	broad.mit.edu	37	chr3	70014281	70014281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagacatcctgatggacgAcaccctttctcccgtcggtg	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:70014281A>G	ENST00000352241.4	+	10	1608	c.1445A>G	c.(1444-1446)gAc>gGc	p.D482G	MITF_ENST00000448226.2_Missense_Mutation_p.D488G|MITF_ENST00000531774.1_Missense_Mutation_p.D319G|MITF_ENST00000394355.2_Missense_Mutation_p.D457G|MITF_ENST00000394351.3_Missense_Mutation_p.D381G|MITF_ENST00000328528.6_Missense_Mutation_p.D481G|MITF_ENST00000472437.1_Missense_Mutation_p.D430G|MITF_ENST00000314557.6_Missense_Mutation_p.D375G|MITF_ENST00000314589.5_Missense_Mutation_p.D466G	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	488					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTGATGGACGACACCCTTTCT	0.532			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						False	0	False	3:70014281	0	G	70014281	A	G	70014281	3	3	88	1	0	0	0	0	1	0	0	0	9663	275	10	4	1722	4	MITF	3	70014281	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23880	70014281	128008149	4157	11869											
MITF	4286	broad.mit.edu	37	chr3	70014328	70014328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccactcctttcctcagtgTcccccggagcttccaaaaca	5	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:70014328T>C	ENST00000352241.4	+	10	1655	c.1492T>C	c.(1492-1494)Tcc>Ccc	p.S498P	MITF_ENST00000448226.2_Missense_Mutation_p.S504P|MITF_ENST00000531774.1_Missense_Mutation_p.S335P|MITF_ENST00000394355.2_Missense_Mutation_p.S473P|MITF_ENST00000394351.3_Missense_Mutation_p.S397P|MITF_ENST00000328528.6_Missense_Mutation_p.S497P|MITF_ENST00000472437.1_Missense_Mutation_p.S446P|MITF_ENST00000314557.6_Missense_Mutation_p.S391P|MITF_ENST00000314589.5_Missense_Mutation_p.S482P	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	504					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TTCCTCAGTGTCCCCCGGAGC	0.532			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"						False	0	True	3:70014328	0	C	70014328	T	C	70014328	3	2	88	1	0	0	0	0	1	0	0	0	9663	1667	58	4	1769	4	MITF	3	70014328	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47	70014328	128008102	4158	11870											
FOXP1	27086	broad.mit.edu	37	chr3	71008431	71008431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtttactggttcatcttcGtaatctctgtcatggtcaaa	7	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71008431G>A	ENST00000318789.4	-	21	2526	c.2001C>T	c.(1999-2001)taC>taT	p.Y667Y	FOXP1_ENST00000475937.1_Silent_p.Y667Y|FOXP1_ENST00000493089.1_Silent_p.Y666Y|FOXP1_ENST00000491238.1_Silent_p.Y669Y|FOXP1_ENST00000468577.1_Silent_p.Y603Y|FOXP1_ENST00000484350.1_Silent_p.Y591Y|FOXP1_ENST00000498215.1_Silent_p.Y667Y	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	667					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTTCATCTTCGTAATCTCTGT	0.478			T	PAX5	ALL								False	0	False	3:71008431	0	A	71008431	G	A	71008431	2	1	88	1	0	0	0	0	0	0	0	1	6068	1140	40	1		1	FOXP1	3	71008431	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	994103	71008431	127013999	4159	11871											
FOXP1	27086	broad.mit.edu	37	chr3	71026839	71026839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggtggtctaacttctgcGttcttataaaattcttggtt	8	6	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71026839G>A	ENST00000318789.4	-	16	1908	c.1383C>T	c.(1381-1383)aaC>aaT	p.N461N	FOXP1_ENST00000475937.1_Silent_p.N461N|FOXP1_ENST00000493089.1_Silent_p.N460N|FOXP1_ENST00000491238.1_Silent_p.N463N|FOXP1_ENST00000468577.1_Silent_p.N461N|FOXP1_ENST00000484350.1_Silent_p.N385N|FOXP1_ENST00000498215.1_Silent_p.N461N	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	461					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TAACTTCTGCGTTCTTATAAA	0.338			T	PAX5	ALL								False	0	False	3:71026839	0	A	71026839	G	A	71026839	2	1	88	1	0	0	0	0	0	0	0	1	6068	1136	40	1		1	FOXP1	3	71026839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18408	71026839	126995591	4160	11872											
FOXP1	27086	broad.mit.edu	37	chr3	71096168	71096168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttggcgctgcaaagacaGgaggtgctgctgctgtaact	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71096168G>T	ENST00000318789.4	-	10	1114	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	FOXP1_ENST00000475937.1_Missense_Mutation_p.L197M|FOXP1_ENST00000493089.1_Missense_Mutation_p.L197M|FOXP1_ENST00000491238.1_Missense_Mutation_p.L199M|FOXP1_ENST00000468577.1_Missense_Mutation_p.L197M|FOXP1_ENST00000484350.1_Missense_Mutation_p.L121M|FOXP1_ENST00000498215.1_Missense_Mutation_p.L197M|FOXP1_ENST00000472382.1_5'UTR	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	197	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGCAAAGACAGGAGGTGCTGC	0.517			T	PAX5	ALL								False	0	False	3:71096168	0	T	71096168	G	T	71096168	3	4	88	1	0	0	0	0	1	0	0	0	6068	991	35	3	1492	3	FOXP1	3	71096168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69329	71096168	126926262	4161	11873											
SHQ1	55164	broad.mit.edu	37	chr3	72890250	72890250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatccatagtggcactgCggattcaaagcactttctga	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:72890250C>T	ENST00000325599.8	-	4	571	c.432G>A	c.(430-432)ccG>ccA	p.P144P	SHQ1_ENST00000463369.1_Silent_p.P116P	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	144					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		AGTGGCACTGCGGATTCAAAG	0.423													False	0	False	3:72890250	0	T	72890250	C	T	72890250	2	4	88	1	0	0	0	0	0	0	0	1	14373	755	27	1		1	SHQ1	3	72890250	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1794082	72890250	125132180	4162	11874											
EBLN2	55096	broad.mit.edu	37	chr3	73111947	73111947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgcaatgcagaatcaGccataggttggatcagctca	10	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73111947G>A	ENST00000533473.1	+	1	1138	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	239							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						TGCAGAATCAGCCATAGGTTG	0.443													False	0	False	3:73111947	0	A	73111947	G	A	73111947	3	1	88	1	0	0	0	0	1	0	0	0	4914	971	34	2	717	2	EBLN2	3	73111947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221697	73111947	124910483	4163	11875											
PDZRN3	23024	broad.mit.edu	37	chr3	73432936	73432936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatgtagcgcgtcccgtcGctgcggatcttcaccttcca	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73432936G>A	ENST00000263666.4	-	10	2895	c.2781C>T	c.(2779-2781)agC>agT	p.S927S	PDZRN3_ENST00000466780.1_Silent_p.S584S|PDZRN3_ENST00000535920.1_Silent_p.S649S|PDZRN3_ENST00000462146.2_Silent_p.S584S|PDZRN3_ENST00000479530.1_Silent_p.S644S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	927							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGTCCCGTCGCTGCGGATCT	0.667													False	0	False	3:73432936	0	A	73432936	G	A	73432936	2	1	88	1	0	0	0	0	0	0	0	1	11777	1078	38	1		1	PDZRN3	3	73432936	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	320989	73432936	124589494	4164	11876											
PDZRN3	23024	broad.mit.edu	37	chr3	73433199	73433199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcccgtcgctggctctccGctctttgctttccaggggct	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433199G>A	ENST00000263666.4	-	10	2632	c.2518C>T	c.(2518-2520)Cgg>Tgg	p.R840W	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R497W|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R562W|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R497W|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R557W	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	840							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGGCTCTCCGCTCTTTGCTT	0.637													False	0	False	3:73433199	0	A	73433199	G	A	73433199	3	1	88	1	0	0	0	0	1	0	0	0	11777	1086	38	1	686	1	PDZRN3	3	73433199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	73433199	124589231	4165	11877											
PDZRN3	23024	broad.mit.edu	37	chr3	73433317	73433317	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggaggctggcccgtaGgcttccgtggtccccacagc	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433317G>T	ENST00000263666.4	-	10	2514	c.2400C>A	c.(2398-2400)gcC>gcA	p.A800A	PDZRN3_ENST00000466780.1_Silent_p.A457A|PDZRN3_ENST00000535920.1_Silent_p.A522A|PDZRN3_ENST00000462146.2_Silent_p.A457A|PDZRN3_ENST00000479530.1_Silent_p.A517A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	800							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGGCCCGTAGGCTTCCGTGG	0.652													False	0	False	3:73433317	0	T	73433317	G	T	73433317	2	4	88	1	0	0	0	0	0	0	0	1	11777	987	35	3		3	PDZRN3	3	73433317	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	73433317	124589113	4166	11878											
PDZRN3	23024	broad.mit.edu	37	chr3	73433639	73433639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactccagctcgatgctgCgcagctcttcgttcagcagc	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433639C>T	ENST00000263666.4	-	10	2192	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R350H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R415H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R350H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R410H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	693							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCGATGCTGCGCAGCTCTTC	0.632													False	0	False	3:73433639	0	T	73433639	C	T	73433639	3	4	88	1	0	0	0	0	1	0	0	0	11777	768	27	1	1126	1	PDZRN3	3	73433639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	322	73433639	124588791	4167	11879											
PDZRN3	23024	broad.mit.edu	37	chr3	73434832	73434832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttacctgctgcagcacGctagctgtgaattgcatggc	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73434832G>A	ENST00000263666.4	-	9	1737	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	PDZRN3_ENST00000466780.1_Silent_p.S198S|PDZRN3_ENST00000535920.1_Silent_p.S263S|PDZRN3_ENST00000462146.2_Silent_p.S198S|PDZRN3_ENST00000479530.1_Silent_p.S258S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	541							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCTGCAGCACGCTAGCTGTGA	0.552													False	0	False	3:73434832	0	A	73434832	G	A	73434832	2	1	88	1	0	0	0	0	0	0	0	1	11777	1078	38	1		1	PDZRN3	3	73434832	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1193	73434832	124587598	4168	11880											
CNTN3	5067	broad.mit.edu	37	chr3	74418379	74418379	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcaacattttttcctcGtgaattctcagcaatgcatt	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74418379G>A	ENST00000263665.6	-	7	934	c.907C>T	c.(907-909)Cga>Tga	p.R303*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	303	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTTTTCCTCGTGAATTCTCA	0.398													False	0	False	3:74418379	0	A	74418379	G	A	74418379	4	1	88	1	0	0	0	0	0	1	0	0	3665	1153	40	1	2243	1	CNTN3	3	74418379	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	983547	74418379	123604051	4169	11881											
CNTN3	5067	broad.mit.edu	37	chr3	74418390	74418390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttcctcgtgaattctcaGcaatgcattcataggaacct	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74418390G>T	ENST00000263665.6	-	7	923	c.896C>A	c.(895-897)gCt>gAt	p.A299D		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	299	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGAATTCTCAGCAATGCATTC	0.428													False	0	False	3:74418390	0	T	74418390	G	T	74418390	3	4	88	1	0	0	0	0	1	0	0	0	3665	971	34	3	2254	3	CNTN3	3	74418390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	74418390	123604040	4170	11882											
CNTN3	5067	broad.mit.edu	37	chr3	74420531	74420531	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacgatgggtattcattgaaGatccaagcatatgacagttc	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74420531G>A	ENST00000263665.6	-	5	501	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	158	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATTCATTGAAGATCCAAGCAT	0.393													False	0	False	3:74420531	0	A	74420531	G	A	74420531	2	1	88	1	0	0	0	0	0	0	0	1	3665	932	33	2		2	CNTN3	3	74420531	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2141	74420531	123601899	4171	11883											
ROBO2	6092	broad.mit.edu	37	chr3	75986709	75986709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctccgggactgttgatgaTgactgtggtgttttggggtc	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:75986709T>C	ENST00000487694.3	+	2	344	c.65T>C	c.(64-66)aTg>aCg	p.M22T		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	0					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTGTTGATGATGACTGTGGTG	0.463													False	0	True	3:75986709	0	C	75986709	T	C	75986709	3	2	88	1	0	0	0	0	1	0	0	0	13593	1479	51	4		4	ROBO2	3	75986709	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1566178	75986709	122035721	4172	11884											
ROBO2	6092	broad.mit.edu	37	chr3	77147265	77147265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgactctgaactgcaaggcGgagggccggccaacgcccac	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77147265G>A	ENST00000461745.1	+	2	1062	c.162G>A	c.(160-162)gcG>gcA	p.A54A	ROBO2_ENST00000487694.3_Silent_p.A70A|ROBO2_ENST00000332191.8_Silent_p.A54A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	54	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTGCAAGGCGGAGGGCCGGC	0.617													False	0	False	3:77147265	0	A	77147265	G	A	77147265	2	1	88	1	0	0	0	0	0	0	0	1	13593	1117	39	1		1	ROBO2	3	77147265	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1160556	77147265	120875165	4173	11885											
ROBO2	6092	broad.mit.edu	37	chr3	77645811	77645811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgctggtgatcccagctatCcatggcttgctgattcttgg	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77645811C>T	ENST00000461745.1	+	19	3664	c.2764C>T	c.(2764-2766)Cca>Tca	p.P922S	ROBO2_ENST00000487694.3_Missense_Mutation_p.P938S|ROBO2_ENST00000332191.8_Missense_Mutation_p.P922S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	922					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCAGCTATCCATGGCTTGC	0.458													False	0	False	3:77645811	0	T	77645811	C	T	77645811	3	4	88	1	0	0	0	0	1	0	0	0	13593	855	30	2	2840	2	ROBO2	3	77645811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	498546	77645811	120376619	4174	11886											
ROBO2	6092	broad.mit.edu	37	chr3	77671486	77671486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttgcagatgatgatgcCgacgacgaagaggaagcttt	14	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77671486C>T	ENST00000461745.1	+	23	4563	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	ROBO2_ENST00000487694.3_Silent_p.A1237A|ROBO2_ENST00000332191.8_Silent_p.A1221A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1221					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGATGATGCCGACGACGAAG	0.498													False	0	True	3:77671486	0	T	77671486	C	T	77671486	2	4	88	1	0	0	0	0	0	0	0	1	13593	639	23	1		1	ROBO2	3	77671486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25675	77671486	120350944	4175	11887											
ROBO1	6091	broad.mit.edu	37	chr3	78676482	78676482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacatacctcctgtcgggCtggtgctgcatgtggccagt	12	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78676482C>A	ENST00000436010.2	-	24	4744	c.3747G>T	c.(3745-3747)caG>caT	p.Q1249H	ROBO1_ENST00000464233.1_Missense_Mutation_p.Q1288H|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q1243H|ROBO1_ENST00000467549.1_Missense_Mutation_p.Q1188H			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1288					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCCTGTCGGGCTGGTGCTGCA	0.488													False	0	True	3:78676482	0	A	78676482	C	A	78676482	3	1	88	1	0	0	0	0	1	0	0	0	13592	796	28	3	1115	3	ROBO1	3	78676482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1004996	78676482	119345948	4176	11888											
ROBO1	6091	broad.mit.edu	37	chr3	78680428	78680428	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttttggtaccttgggtgttCttgcccctttcttgtgcccc	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78680428C>A	ENST00000436010.2	-	23	4389	c.3392G>T	c.(3391-3393)aGa>aTa	p.R1131I	ROBO1_ENST00000464233.1_Missense_Mutation_p.R1170I|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1125I|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1070I			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1170					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTTGGGTGTTCTTGCCCCTTT	0.468													False	0	False	3:78680428	0	A	78680428	C	A	78680428	3	1	88	1	0	0	0	0	1	0	0	0	13592	913	32	3	1474	3	ROBO1	3	78680428	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3946	78680428	119342002	4177	11889											
ROBO1	6091	broad.mit.edu	37	chr3	78701024	78701024	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcttcaccacatctgaAatctgctgagcgaggctgac	11	12	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78701024A>C	ENST00000436010.2	-	17	3550	c.2553T>G	c.(2551-2553)atT>atG	p.I851M	ROBO1_ENST00000464233.1_Missense_Mutation_p.I890M|ROBO1_ENST00000495273.1_Missense_Mutation_p.I854M|ROBO1_ENST00000467549.1_Missense_Mutation_p.I854M			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	890	Fibronectin type-III 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCACATCTGAAATCTGCTGAG	0.498													False	0	True	3:78701024	0	C	78701024	A	C	78701024	3	2	88	1	0	0	0	0	1	0	0	0	13592	10	1	4	2337	4	ROBO1	3	78701024	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20596	78701024	119321406	4178	11890											
ROBO1	6091	broad.mit.edu	37	chr3	78711157	78711157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcactgtccagtgcacttCgatggaagaggaagaaagga	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78711157C>T	ENST00000436010.2	-	13	2954	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	ROBO1_ENST00000464233.1_Missense_Mutation_p.E692K|ROBO1_ENST00000495273.1_Missense_Mutation_p.E656K|ROBO1_ENST00000467549.1_Missense_Mutation_p.E656K			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	692					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGTGCACTTCGATGGAAGAG	0.463													False	0	False	3:78711157	0	T	78711157	C	T	78711157	3	4	88	1	0	0	0	0	1	0	0	0	13592	893	31	1	2949	1	ROBO1	3	78711157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10133	78711157	119311273	4179	11891											
ROBO1	6091	broad.mit.edu	37	chr3	78719257	78719257	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagttaccttagcatatcGgatctgcagtactccattct	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78719257G>A	ENST00000436010.2	-	9	2417	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	ROBO1_ENST00000464233.1_Nonsense_Mutation_p.R513*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.R477*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.R477*			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	513	Ig-like C2-type 5.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTAGCATATCGGATCTGCAGT	0.443													False	0	False	3:78719257	0	A	78719257	G	A	78719257	4	1	88	1	0	0	0	0	0	1	0	0	13592	1124	39	1	3502	1	ROBO1	3	78719257	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8100	78719257	119303173	4180	11892											
GBE1	2632	broad.mit.edu	37	chr3	81627222	81627222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcatccatcaaccaaaatGccagcgacttatccccaacc	5	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81627222G>A	ENST00000429644.2	-	12	2115	c.1472C>T	c.(1471-1473)gCa>gTa	p.A491V	GBE1_ENST00000489715.1_Missense_Mutation_p.A450V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	491					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CAACCAAAATGCCAGCGACTT	0.358									Glycogen Storage Disease, type IV				False	0	False	3:81627222	0	A	81627222	G	A	81627222	3	1	88	1	0	0	0	0	1	0	0	0	6313	1319	46	2	656	2	GBE1	3	81627222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2907965	81627222	116395208	4181	11893											
GBE1	2632	broad.mit.edu	37	chr3	81699009	81699009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattatcaccttcacgaaCcacatactttgcccacggtg	5	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81699009C>T	ENST00000429644.2	-	4	1136	c.493G>A	c.(493-495)Gtt>Att	p.V165I	GBE1_ENST00000489715.1_Missense_Mutation_p.V124I	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	165					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCTTCACGAACCACATACTTT	0.338									Glycogen Storage Disease, type IV				False	0	False	3:81699009	0	T	81699009	C	T	81699009	3	4	88	1	0	0	0	0	1	0	0	0	6313	507	18	2	1667	2	GBE1	3	81699009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71787	81699009	116323421	4182	11894											
GBE1	2632	broad.mit.edu	37	chr3	81810581	81810581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcgatctccaggagtcTggccagttcgggcacgtcag	15	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81810581T>C	ENST00000429644.2	-	1	731	c.88A>G	c.(88-90)Aga>Gga	p.R30G		NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	30					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TCCAGGAGTCTGGCCAGTTCG	0.677									Glycogen Storage Disease, type IV				False	0	False	3:81810581	0	C	81810581	T	C	81810581	3	2	88	1	0	0	0	0	1	0	0	0	6313	1588	55	4	2084	4	GBE1	3	81810581	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	111572	81810581	116211849	4183	11895											
GBE1	2632	broad.mit.edu	37	chr3	81810601	81810601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccagttcgggcacgtcaGccagggcggcattgagcgcc	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81810601G>A	ENST00000429644.2	-	1	711	c.68C>T	c.(67-69)gCt>gTt	p.A23V		NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	23					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GGGCACGTCAGCCAGGGCGGC	0.682									Glycogen Storage Disease, type IV				False	0	False	3:81810601	0	A	81810601	G	A	81810601	3	1	88	1	0	0	0	0	1	0	0	0	6313	971	34	2	2104	2	GBE1	3	81810601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	81810601	116211829	4184	11896											
CADM2	253559	broad.mit.edu	37	chr3	85961642	85961642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatctgcagagtagatcacGaatccctcaatgccacccct	6	15	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:85961642G>A	ENST00000383699.3	+	6	1276	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	CADM2_ENST00000407528.2_Missense_Mutation_p.E208K|CADM2_ENST00000405615.2_Missense_Mutation_p.E210K	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	208	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGTAGATCACGAATCCCTCAA	0.502													False	0	False	3:85961642	0	A	85961642	G	A	85961642	3	1	88	1	0	0	0	0	1	0	0	0	2587	1059	37	1	711	1	CADM2	3	85961642	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4151041	85961642	112060788	4185	11897											
CADM2	253559	broad.mit.edu	37	chr3	86010637	86010637	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggccagaacctgttttgtgGacaaaggatggcggagaatt	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:86010637G>A	ENST00000383699.3	+	8	1437	c.810G>A	c.(808-810)tgG>tgA	p.W270*	CADM2_ENST00000407528.2_Nonsense_Mutation_p.W261*|CADM2_ENST00000405615.2_Nonsense_Mutation_p.W263*	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	261	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGTTTTGTGGACAAAGGATG	0.348													False	0	False	3:86010637	0	A	86010637	G	A	86010637	4	1	88	1	0	0	0	0	0	1	0	0	2587	1183	41	2	880	2	CADM2	3	86010637	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48995	86010637	112011793	4186	11898											
VGLL3	389136	broad.mit.edu	37	chr3	87017995	87017995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgagggtggtggtgccGcatgtacacgtcatgcatat	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87017995G>A	ENST00000398399.2	-	3	1045	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	VGLL3_ENST00000383698.3_Missense_Mutation_p.R228W	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	228	His-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R228W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TGGTGGTGCCGCATGTACACG	0.612													False	0	False	3:87017995	0	A	87017995	G	A	87017995	3	1	88	1	0	0	0	0	1	0	0	0	17244	1086	38	1	306	1	VGLL3	3	87017995	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1007358	87017995	111004435	4187	11899											
VGLL3	389136	broad.mit.edu	37	chr3	87027680	87027680	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttgaattcttacctcgCcataggggggttagccccat	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87027680C>T	ENST00000398399.2	-	2	762	c.399G>A	c.(397-399)tgG>tgA	p.W133*	VGLL3_ENST00000383698.3_Nonsense_Mutation_p.W133*	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TCTTACCTCGCCATAGGGGGG	0.507													False	0	False	3:87027680	0	T	87027680	C	T	87027680	4	4	88	1	0	0	0	0	0	1	0	0	17244	740	26	2	593	2	VGLL3	3	87027680	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9685	87027680	110994750	4188	11900											
CHMP2B	25978	broad.mit.edu	37	chr3	87294981	87294981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttgctgtaagttcaaaaGttacttctatgtctacacaa	5	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87294981G>T	ENST00000263780.4	+	3	482	c.244G>T	c.(244-246)Gtt>Ttt	p.V82F	CHMP2B_ENST00000494980.1_Intron|CHMP2B_ENST00000471660.1_Missense_Mutation_p.V41F|CHMP2B_ENST00000472024.1_3'UTR	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	82					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AAGTTCAAAAGTTACTTCTAT	0.368													False	0	True	3:87294981	0	T	87294981	G	T	87294981	3	4	88	1	0	0	0	0	1	0	0	0	3378	1029	36	3	254	3	CHMP2B	3	87294981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	267301	87294981	110727449	4189	11901											
HTR1F	3355	broad.mit.edu	37	chr3	88040023	88040023	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacaacaactatcaacTcccttgtgatcgctgcaatt	6	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88040023T>C	ENST00000319595.4	+	1	178	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	42					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AACTATCAACTCCCTTGTGAT	0.453													False	0	True	3:88040023	0	C	88040023	T	C	88040023	3	2	88	1	0	0	0	0	1	0	0	0	7490	1551	54	4	126	4	HTR1F	3	88040023	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	745042	88040023	109982407	4190	11902											
ZNF654	55279	broad.mit.edu	37	chr3	88188660	88188660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggatgatcaggaagtcaCtgctttggaagaaataaatt	10	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88188660C>T	ENST00000309495.5	+	1	407	c.200C>T	c.(199-201)aCt>aTt	p.T67I	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CAGGAAGTCACTGCTTTGGAA	0.373													False	0	False	3:88188660	0	T	88188660	C	T	88188660	3	4	88	1	0	0	0	0	1	0	0	0	18150	565	20	2	202	2	ZNF654	3	88188660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148637	88188660	109833770	4191	11903											
C3orf38	285237	broad.mit.edu	37	chr3	88205397	88205397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaaatcgtgagccttcGtttgctgtcactagtaaaag	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88205397G>A	ENST00000318887.3	+	3	912	c.602G>A	c.(601-603)cGt>cAt	p.R201H	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	201					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GTGAGCCTTCGTTTGCTGTCA	0.423													False	0	True	3:88205397	0	A	88205397	G	A	88205397	3	1	88	1	0	0	0	0	1	0	0	0	2244	1145	40	1	612	1	C3orf38	3	88205397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16737	88205397	109817033	4192	11904											
C3orf38	285237	broad.mit.edu	37	chr3	88205716	88205716	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttataatgtaatcactgtAtgtggtaccaatgaagtacg	8	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88205716A>G	ENST00000318887.3	+	3	1231	c.921A>G	c.(919-921)gtA>gtG	p.V307V	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	307					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TAATCACTGTATGTGGTACCA	0.398													False	0	False	3:88205716	0	G	88205716	A	G	88205716	2	3	88	1	0	0	0	0	0	0	0	1	2244	436	16	4		4	C3orf38	3	88205716	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	319	88205716	109816714	4193	11905											
PROS1	5627	broad.mit.edu	37	chr3	93611924	93611924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattctgcgtacagtatcacGccttctgaatcatatgtccg	8	11	4	1	rs141208672		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:93611924G>A	ENST00000394236.3	-	10	1324	c.1008C>T	c.(1006-1008)ggC>ggT	p.G336G	PROS1_ENST00000407433.1_Silent_p.G205G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	336	Laminin G-like 1.		G -> D (in PROS1D).|G -> S (in PROS1D).|G -> V (in PROS1D; expresses very low/ undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ACAGTATCACGCCTTCTGAAT	0.398													False	0	False	3:93611924	0	A	93611924	G	A	93611924	2	1	88	1	0	0	0	0	0	0	0	1	12634	1074	38	1		1	PROS1	3	93611924	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5406208	93611924	104410506	4194	11906											
PROS1	5627	broad.mit.edu	37	chr3	93617301	93617301	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaatgtttacctcacaactCttctgatcttgggcaagttt	6	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:93617301C>A	ENST00000394236.3	-	8	1156	c.840G>T	c.(838-840)aaG>aaT	p.K280N	PROS1_ENST00000407433.1_Missense_Mutation_p.K149N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	280	EGF-like 4; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CCTCACAACTCTTCTGATCTT	0.383													False	0	False	3:93617301	0	A	93617301	C	A	93617301	3	1	88	1	0	0	0	0	1	0	0	0	12634	912	32	3	1222	3	PROS1	3	93617301	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5377	93617301	104405129	4195	11907											
EPHA6	285220	broad.mit.edu	37	chr3	96706372	96706372	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggtcttggggacttgcaaaGaaacatttaatctgttttat	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:96706372G>T	ENST00000389672.5	+	3	687	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	EPHA6_ENST00000542517.1_Nonsense_Mutation_p.E123*|EPHA6_ENST00000470610.2_Nonsense_Mutation_p.E217*	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	122						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACTTGCAAAGAAACATTTAA	0.398													False	0	True	3:96706372	0	T	96706372	G	T	96706372	4	4	88	1	0	0	0	0	0	1	0	0	5203	943	33	3	659	3	EPHA6	3	96706372	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3089071	96706372	101316058	4196	11908											
EPHA6	285220	broad.mit.edu	37	chr3	96706450	96706450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaccagtatacaaagatcGacacaattgctgctgatgag	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:96706450G>A	ENST00000389672.5	+	3	765	c.727G>A	c.(727-729)Gac>Aac	p.D243N	EPHA6_ENST00000542517.1_Missense_Mutation_p.D149N|EPHA6_ENST00000470610.2_Missense_Mutation_p.D243N	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	148						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TACAAAGATCGACACAATTGC	0.413													False	0	False	3:96706450	0	A	96706450	G	A	96706450	3	1	88	1	0	0	0	0	1	0	0	0	5203	1058	37	1	737	1	EPHA6	3	96706450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78	96706450	101315980	4197	11909											
CRYBG3	131544	broad.mit.edu	37	chr3	97596325	97596325	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgacagctcacaggAggacattctatctagtgagg	13	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97596325A>C	ENST00000182096.4	+	1	507	c.443A>C	c.(442-444)gAg>gCg	p.E148A		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AGCTCACAGGAGGACATTCTA	0.428													False	0	False	3:97596325	0	C	97596325	A	C	97596325	3	2	88	1	0	0	0	0	1	0	0	0	3936	304	11	4	445	4	CRYBG3	3	97596325	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	889875	97596325	100426105	4198	11910											
CRYBG3	131544	broad.mit.edu	37	chr3	97655719	97655719	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggacagcattcagcagatgGaaaacaattggttccctccg	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97655719G>A	ENST00000182096.4	+	16	2692	c.2628G>A	c.(2626-2628)tgG>tgA	p.W876*	CRYBG3_ENST00000389622.2_Nonsense_Mutation_p.W83*|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TCAGCAGATGGAAAACAATTG	0.413													False	0	True	3:97655719	0	A	97655719	G	A	97655719	4	1	88	1	0	0	0	0	0	1	0	0	3936	1183	41	2	2690	2	CRYBG3	3	97655719	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59394	97655719	100366711	4199	11911											
GABRR3	200959	broad.mit.edu	37	chr3	97711701	97711701	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcaaggctgtacctttcCtgtcttcttgaattgtttcc	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97711701C>A	ENST00000472788.1	-	0	1100					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						TGTACCTTTCCTGTCTTCTTG	0.473													False	0	False	3:97711701	0	A	97711701	C	A	97711701	1	1	88	0	1	0	0	0	0	0	0	0	6220	690	24	3		3	GABRR3	3	97711701	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55982	97711701	100310729	4200	11912											
GABRR3	200959	broad.mit.edu	37	chr3	97720488	97720488	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttgcaggaacagctcttCggtcaatccaaaatgaaacc	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97720488C>T	ENST00000472788.1	-	0	879					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						AACAGCTCTTCGGTCAATCCA	0.403													False	0	False	3:97720488	0	T	97720488	C	T	97720488	1	4	88	0	1	0	0	0	0	0	0	0	6220	884	31	1		1	GABRR3	3	97720488	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8787	97720488	100301942	4201	11913											
GABRR3	200959	broad.mit.edu	37	chr3	97736563	97736563	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctatacctactggcactggaGacccttaagaaagaagaatg	9	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97736563G>T	ENST00000472788.1	-	0	243					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						TGGCACTGGAGACCCTTAAGA	0.353													False	0	False	3:97736563	0	T	97736563	G	T	97736563	1	4	88	0	1	0	0	0	0	0	0	0	6220	942	33	3		3	GABRR3	3	97736563	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16075	97736563	100285867	4202	11914											
OR5AC2	81050	broad.mit.edu	37	chr3	97806194	97806194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacccccatcttcatatgCccatgtacttattccttggt	5	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97806194C>T	ENST00000358642.2	+	1	178	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P60F(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TCTTCATATGCCCATGTACTT	0.433													False	0	True	3:97806194	0	T	97806194	C	T	97806194	3	4	88	1	0	0	0	0	1	0	0	0	11209	739	26	2	180	2	OR5AC2	3	97806194	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69631	97806194	100216236	4203	11915											
OR5H1	26341	broad.mit.edu	37	chr3	97851957	97851957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccagccattatgaccaatgGactgtgcatccggctattaa	8	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97851957G>T	ENST00000354565.2	+	1	416	c.416G>T	c.(415-417)gGa>gTa	p.G139V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ATGACCAATGGACTGTGCATC	0.393													False	0	False	3:97851957	0	T	97851957	G	T	97851957	3	4	88	1	0	0	0	0	1	0	0	0	11227	1174	41	3	418	3	OR5H1	3	97851957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45763	97851957	100170473	4204	11916											
OR5H14	403273	broad.mit.edu	37	chr3	97868310	97868310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtggaaaatacccctGttcctggcattcttggtaat	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97868310G>A	ENST00000437310.1	+	1	141	c.81G>A	c.(79-81)ctG>ctA	p.L27L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAATACCCCTGTTCCTGGCAT	0.423													False	0	False	3:97868310	0	A	97868310	G	A	97868310	2	1	88	1	0	0	0	0	0	0	0	1	11228	1364	48	2		2	OR5H14	3	97868310	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16353	97868310	100154120	4205	11917											
OR5H14	403273	broad.mit.edu	37	chr3	97868645	97868645	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccagccattatgaccaatgGactgtgcatccggctattaa	8	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97868645G>T	ENST00000437310.1	+	1	476	c.416G>T	c.(415-417)gGa>gTa	p.G139V		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGACCAATGGACTGTGCATC	0.398													False	0	False	3:97868645	0	T	97868645	G	T	97868645	3	4	88	1	0	0	0	0	1	0	0	0	11228	1174	41	3	418	3	OR5H14	3	97868645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	335	97868645	100153785	4206	11918											
OR5H6	79295	broad.mit.edu	37	chr3	97983282	97983282	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggcattcttggtaatatatCtcatcaccatcatggggaat	8	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97983282C>A	ENST00000383696.2	+	1	195	c.154C>A	c.(154-156)Ctc>Atc	p.L52I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGTAATATATCTCATCACCAT	0.403													False	0	True	3:97983282	0	A	97983282	C	A	97983282	3	1	88	1	0	0	0	0	1	0	0	0	11231	913	32	3	156	3	OR5H6	3	97983282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114637	97983282	100039148	4207	11919											
OR5K1	26339	broad.mit.edu	37	chr3	98188581	98188581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgatatttacacaccgtcGgcttcacacaccaatgtaca	5	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98188581G>A	ENST00000332650.5	+	1	258	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACACCGTCGGCTTCACACA	0.453													False	0	False	3:98188581	0	A	98188581	G	A	98188581	3	1	88	1	0	0	0	0	1	0	0	0	11234	1116	39	1	163	1	OR5K1	3	98188581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205299	98188581	99833849	4208	11920											
CLDND1	56650	broad.mit.edu	37	chr3	98235513	98235513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttcttgctcatgccacaCgatatgccttcattaaggtg	8	10	3	0	rs147410947	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98235513C>T	ENST00000503004.1	-	5	1631	c.752G>A	c.(751-753)cGt>cAt	p.R251H	CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.R274H|CLDND1_ENST00000394185.2_Missense_Mutation_p.R251H|CLDND1_ENST00000511081.1_Missense_Mutation_p.R156H|CLDND1_ENST00000510545.1_Missense_Mutation_p.R251H|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000341181.6_Missense_Mutation_p.R251H|CLDND1_ENST00000513287.1_Missense_Mutation_p.R251H|CLDND1_ENST00000394181.2_Missense_Mutation_p.R251H|CLDND1_ENST00000394180.2_Missense_Mutation_p.R251H			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	251						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TCATGCCACACGATATGCCTT	0.398													False	0	False	3:98235513	0	T	98235513	C	T	98235513	3	4	88	1	0	0	0	0	1	0	0	0	3516	536	19	1	13	1	CLDND1	3	98235513	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46932	98235513	99786917	4209	11921											
CPOX	1371	broad.mit.edu	37	chr3	98307569	98307569	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctaccattttttaaatTtggggtagagatctggacca	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98307569T>G	ENST00000264193.2	-	4	1159	c.941A>C	c.(940-942)aAa>aCa	p.K314T		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	314						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TTTTTTAAATTTGGGGTAGAG	0.403													False	0	True	3:98307569	0	G	98307569	T	G	98307569	3	3	88	1	0	0	0	0	1	0	0	0	3844	1841	64	4	439	4	CPOX	3	98307569	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72056	98307569	99714861	4210	11922											
DCBLD2	131566	broad.mit.edu	37	chr3	98518287	98518287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttcttgtgtgctctgtgGcacctggtacaccaattcgt	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98518287G>A	ENST00000326840.6	-	16	2619	c.2257C>T	c.(2257-2259)Cca>Tca	p.P753S	DCBLD2_ENST00000326857.9_Missense_Mutation_p.P767S	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	753					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTGCTCTGTGGCACCTGGTAC	0.507													False	0	False	3:98518287	0	A	98518287	G	A	98518287	3	1	88	1	0	0	0	0	1	0	0	0	4306	1203	42	2	74	2	DCBLD2	3	98518287	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210718	98518287	99504143	4211	11923											
DCBLD2	131566	broad.mit.edu	37	chr3	98518306	98518306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacctggtacaccaattcGtctggggcaggtagacctgg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98518306G>A	ENST00000326840.6	-	16	2600	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D	DCBLD2_ENST00000326857.9_Silent_p.D760D	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	746					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		p.D746D(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						ACACCAATTCGTCTGGGGCAG	0.502													False	0	False	3:98518306	0	A	98518306	G	A	98518306	2	1	88	1	0	0	0	0	0	0	0	1	4306	1136	40	1		1	DCBLD2	3	98518306	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	98518306	99504124	4212	11924											
DCBLD2	131566	broad.mit.edu	37	chr3	98541110	98541110	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagccaaagaactttcataAtaggggatacctttactaat	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98541110A>C	ENST00000326840.6	-	6	1154	c.792T>G	c.(790-792)taT>taG	p.Y264*	DCBLD2_ENST00000326857.9_Nonsense_Mutation_p.Y264*	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	264	LCCL.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						AACTTTCATAATAGGGGATAC	0.393													False	0	False	3:98541110	0	C	98541110	A	C	98541110	4	2	88	1	0	0	0	0	0	1	0	0	4306	108	4	4	1579	4	DCBLD2	3	98541110	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22804	98541110	99481320	4213	11925											
DCBLD2	131566	broad.mit.edu	37	chr3	98568340	98568340	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagagtatgaggccaaaaatCcgcgtccagaaacatggatt	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98568340C>A	ENST00000326840.6	-	3	898	c.536G>T	c.(535-537)gGa>gTa	p.G179V	DCBLD2_ENST00000469648.1_5'UTR|DCBLD2_ENST00000326857.9_Missense_Mutation_p.G179V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	179	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GGCCAAAAATCCGCGTCCAGA	0.353													False	0	False	3:98568340	0	A	98568340	C	A	98568340	3	1	88	1	0	0	0	0	1	0	0	0	4306	855	30	3	1847	3	DCBLD2	3	98568340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27230	98568340	99454090	4214	11926											
COL8A1	1295	broad.mit.edu	37	chr3	99514881	99514881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctcaggcccggagaCcgggtgttcctccagatgcc	13	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99514881C>T	ENST00000261037.3	+	5	2516	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	COL8A1_ENST00000273342.4_Silent_p.D712D	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	712	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGCCCGGAGACCGGGTGTTCC	0.537													False	0	False	3:99514881	0	T	99514881	C	T	99514881	2	4	88	1	0	0	0	0	0	0	0	1	3728	506	18	2		2	COL8A1	3	99514881	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	946541	99514881	98507549	4215	11927											
FILIP1L	11259	broad.mit.edu	37	chr3	99567134	99567134	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcagttatatatattaCttactgtaatttgtgattgt	8	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567134C>A	ENST00000331335.5	-	5	3856	c.3386G>T	c.(3385-3387)aGt>aTt	p.S1129I	CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000354552.3_Intron|FILIP1L_ENST00000471562.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S889I	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	0						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATATATATTACTTACTGTAAT	0.398													False	0	True	3:99567134	0	A	99567134	C	A	99567134	3	1	88	1	0	0	0	0	1	0	0	0	5935	565	20	3	50	3	FILIP1L	3	99567134	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52253	99567134	98455296	4216	11928											
FILIP1L	11259	broad.mit.edu	37	chr3	99567303	99567303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcacagggctggctacagCttgcatgtaaggacttccta	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567303C>T	ENST00000331335.5	-	5	3687	c.3217G>A	c.(3217-3219)Gct>Act	p.A1073T	CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A649T|FILIP1L_ENST00000354552.3_Missense_Mutation_p.A1073T|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A833T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A833T	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1073						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CTGGCTACAGCTTGCATGTAA	0.448													False	0	False	3:99567303	0	T	99567303	C	T	99567303	3	4	88	1	0	0	0	0	1	0	0	0	5935	797	28	2	219	2	FILIP1L	3	99567303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169	99567303	98455127	4217	11929											
FILIP1L	11259	broad.mit.edu	37	chr3	99567800	99567800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttgtacatggtctggaGtaacctttatatgaagtggc	11	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567800G>A	ENST00000331335.5	-	5	3190	c.2720C>T	c.(2719-2721)aCt>aTt	p.T907I	CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T483I|FILIP1L_ENST00000354552.3_Missense_Mutation_p.T907I|FILIP1L_ENST00000471562.1_Missense_Mutation_p.T667I|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T667I	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	907						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATGGTCTGGAGTAACCTTTAT	0.463													False	0	False	3:99567800	0	A	99567800	G	A	99567800	3	1	88	1	0	0	0	0	1	0	0	0	5935	1029	36	2	716	2	FILIP1L	3	99567800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	497	99567800	98454630	4218	11930											
TOMM70A	9868	broad.mit.edu	37	chr3	100092477	100092477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcttcaacttgatcaaGgagtattttcagctaagaaa	7	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100092477G>T	ENST00000284320.5	-	8	1688	c.1240C>A	c.(1240-1242)Ctt>Att	p.L414I		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	414					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ACTTGATCAAGGAGTATTTTC	0.358													False	0	False	3:100092477	0	T	100092477	G	T	100092477	3	4	88	1	0	0	0	0	1	0	0	0	16445	1000	35	3	606	3	TOMM70A	3	100092477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	524677	100092477	97929953	4219	11931											
TOMM70A	9868	broad.mit.edu	37	chr3	100103350	100103350	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttggctttctctttTccaaggagtttaagaacttt	6	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100103350T>A	ENST00000284320.5	-	4	1156	c.708A>T	c.(706-708)ggA>ggT	p.G236G		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	236					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CTTTCTCTTTTCCAAGGAGTT	0.358													False	0	True	3:100103350	0	A	100103350	T	A	100103350	2	1	88	1	0	0	0	0	0	0	0	1	16445	1770	62	5		5	TOMM70A	3	100103350	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10873	100103350	97919080	4220	11932											
LNP1	348801	broad.mit.edu	37	chr3	100170652	100170652	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcgatgccgtagccacgtAcgggattacagaaaatactc	9	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100170652A>G	ENST00000383693.3	+	3	1526	c.246A>G	c.(244-246)gtA>gtG	p.V82V	LNP1_ENST00000489752.1_Silent_p.V95V	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	82										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GTAGCCACGTACGGGATTACA	0.443													False	0	False	3:100170652	0	G	100170652	A	G	100170652	2	3	88	1	0	0	0	0	0	0	0	1	8916	378	14	4		4	LNP1	3	100170652	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67302	100170652	97851778	4221	11933											
TMEM45A	55076	broad.mit.edu	37	chr3	100287799	100287799	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcgttggaatgaattatgCtttcattacctggtaagtta	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100287799C>A	ENST00000403410.1	+	7	1390	c.770C>A	c.(769-771)gCt>gAt	p.A257D	TMEM45A_ENST00000323523.4_Missense_Mutation_p.A241D			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	241						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						ATGAATTATGCTTTCATTACC	0.353													False	0	True	3:100287799	0	A	100287799	C	A	100287799	3	1	88	1	0	0	0	0	1	0	0	0	16251	797	28	3	736	3	TMEM45A	3	100287799	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117147	100287799	97734631	4222	11934											
GPR128	84873	broad.mit.edu	37	chr3	100378676	100378676	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgctgtggaagaataaccaGaacctgacaaggtaagattc	11	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100378676G>A	ENST00000273352.3	+	14	2236	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q	GPR128_ENST00000475887.1_Silent_p.Q361Q|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	656					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AGAATAACCAGAACCTGACAA	0.438													False	0	False	3:100378676	0	A	100378676	G	A	100378676	2	1	88	1	0	0	0	0	0	0	0	1	6687	933	33	2		2	GPR128	3	100378676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90877	100378676	97643754	4223	11935											
TFG	10342	broad.mit.edu	37	chr3	100432536	100432536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggagtccaccatgaacGgacagttggatctaagtggg	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100432536G>A	ENST00000240851.4	+	2	347	c.7G>A	c.(7-9)Gga>Aga	p.G3R	TFG_ENST00000418917.2_Missense_Mutation_p.G3R|TFG_ENST00000476228.1_Missense_Mutation_p.G3R|TFG_ENST00000490574.1_Missense_Mutation_p.G3R	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	3					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	p.G3*(1)	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCATGAACGGACAGTTGGA	0.353			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"								False	0	False	3:100432536	0	A	100432536	G	A	100432536	3	1	88	1	0	0	0	0	1	0	0	0	15888	1117	39	1	9	1	TFG	3	100432536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53860	100432536	97589894	4224	11936											
TFG	10342	broad.mit.edu	37	chr3	100447675	100447675	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaccacctggagaaccaGgaccttccaccaatattcct	7	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100447675G>T	ENST00000240851.4	+	4	728	c.388G>T	c.(388-390)Gga>Tga	p.G130*	TFG_ENST00000418917.2_Nonsense_Mutation_p.G130*|TFG_ENST00000476228.1_Nonsense_Mutation_p.G130*|TFG_ENST00000490574.1_Nonsense_Mutation_p.G130*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	130					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGGAGAACCAGGACCTTCCAC	0.373			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"								False	0	False	3:100447675	0	T	100447675	G	T	100447675	4	4	88	1	0	0	0	0	0	1	0	0	15888	1001	35	3	398	3	TFG	3	100447675	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15139	100447675	97574755	4225	11937											
ABI3BP	25890	broad.mit.edu	37	chr3	100484701	100484701	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttacctcgtgtttggtttcaGattttctactgtggaaaatg	9	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100484701G>T	ENST00000471714.1	-	62	4916	c.4807C>A	c.(4807-4809)Ctg>Atg	p.L1603M	ABI3BP_ENST00000383691.4_Missense_Mutation_p.L855M|ABI3BP_ENST00000284322.5_Missense_Mutation_p.L901M			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	901						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTGGTTTCAGATTTTCTACT	0.368													False	0	False	3:100484701	0	T	100484701	G	T	100484701	3	4	88	1	0	0	0	0	1	0	0	0	91	933	33	3	550	3	ABI3BP	3	100484701	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37026	100484701	97537729	4226	11938											
ABI3BP	25890	broad.mit.edu	37	chr3	100493516	100493516	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctaaagtcagttatattTtctgagaatggaaaataatg	9	3	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100493516T>G	ENST00000471714.1	-	60	4546	c.4437A>C	c.(4435-4437)gaA>gaC	p.E1479D	ABI3BP_ENST00000383691.4_Splice_Site_p.E731D|ABI3BP_ENST00000284322.5_Splice_Site_p.E777D			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	777						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGTTATATTTTCTGAGAATG	0.333													False	0	True	3:100493516	0	G	100493516	T	G	100493516	5	3	88	1	0	0	0	0	0	0	1	0	91	1855	64	4	928	4	ABI3BP	3	100493516	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8815	100493516	97528914	4227	11939											
ABI3BP	25890	broad.mit.edu	37	chr3	100565266	100565266	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagggattttaggtttcagaGaaataaattgtgttttaccg	11	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100565266G>T	ENST00000471714.1	-	20	1803	c.1694C>A	c.(1693-1695)tCt>tAt	p.S565Y	ABI3BP_ENST00000383691.4_5'UTR|ABI3BP_ENST00000495063.1_Missense_Mutation_p.S565Y|ABI3BP_ENST00000284322.5_Missense_Mutation_p.S516Y			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	516	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGGTTTCAGAGAAATAAATTG	0.333													False	0	True	3:100565266	0	T	100565266	G	T	100565266	3	4	88	1	0	0	0	0	1	0	0	0	91	942	33	3	1752	3	ABI3BP	3	100565266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71750	100565266	97457164	4228	11940											
ABI3BP	25890	broad.mit.edu	37	chr3	100569529	100569529	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcccttggctgttcaagAgttctagaagttttaggtgg	13	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100569529A>G	ENST00000471714.1	-	16	1531	c.1422T>C	c.(1420-1422)acT>acC	p.T474T	ABI3BP_ENST00000495063.1_Silent_p.T474T|ABI3BP_ENST00000284322.5_Silent_p.T425T			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	427	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCTGTTCAAGAGTTCTAGAAG	0.353													False	0	False	3:100569529	0	G	100569529	A	G	100569529	2	3	88	1	0	0	0	0	0	0	0	1	91	291	11	4		4	ABI3BP	3	100569529	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4263	100569529	97452901	4229	11941											
ABI3BP	25890	broad.mit.edu	37	chr3	100645275	100645275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgcaagaacttcaagaGgatggagtcacttgtggtat	13	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100645275G>A	ENST00000471714.1	-	2	260	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	ABI3BP_ENST00000495063.1_Missense_Mutation_p.L51F|ABI3BP_ENST00000284322.5_Missense_Mutation_p.L51F|ABI3BP_ENST00000532144.1_5'UTR			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	51						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AACTTCAAGAGGATGGAGTCA	0.448													False	0	False	3:100645275	0	A	100645275	G	A	100645275	3	1	88	1	0	0	0	0	1	0	0	0	91	1000	35	2	3212	2	ABI3BP	3	100645275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75746	100645275	97377155	4230	11942											
IMPG2	50939	broad.mit.edu	37	chr3	100976376	100976376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggatatcaaactcaccatTgataagctgcagggaatcag	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100976376T>C	ENST00000193391.7	-	10	1337	c.1150A>G	c.(1150-1152)Aat>Gat	p.N384D		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	384					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AACTCACCATTGATAAGCTGC	0.373													False	0	False	3:100976376	0	C	100976376	T	C	100976376	3	2	88	1	0	0	0	0	1	0	0	0	7779	1812	63	4	2615	4	IMPG2	3	100976376	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	331101	100976376	97046054	4231	11943											
SENP7	57337	broad.mit.edu	37	chr3	101047326	101047326	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgtcattacttactctcGtaaattctgaactgtgtttt	5	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101047326G>A	ENST00000394095.2	-	22	2913	c.2860C>T	c.(2860-2862)Cga>Tga	p.R954*	SENP7_ENST00000394094.2_Nonsense_Mutation_p.R889*|SENP7_ENST00000348610.3_Nonsense_Mutation_p.R921*|SENP7_ENST00000394085.3_Nonsense_Mutation_p.R142*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.R790*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.R888*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.R790*	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	954	Protease.				proteolysis	nucleus	cysteine-type peptidase activity	p.R888*(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTTACTCTCGTAAATTCTGA	0.318													False	0	False	3:101047326	0	A	101047326	G	A	101047326	4	1	88	1	0	0	0	0	0	1	0	0	14132	1153	40	1	304	1	SENP7	3	101047326	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70950	101047326	96975104	4232	11944											
SENP7	57337	broad.mit.edu	37	chr3	101047522	101047522	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctttggtactgacatattCgactcggtactctgaaataa	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101047522C>T	ENST00000394095.2	-	21	2816	c.2763G>A	c.(2761-2763)tcG>tcA	p.S921S	SENP7_ENST00000394094.2_Silent_p.S856S|SENP7_ENST00000348610.3_Silent_p.S888S|SENP7_ENST00000394085.3_Silent_p.S109S|SENP7_ENST00000394091.1_Silent_p.S757S|SENP7_ENST00000314261.7_Silent_p.S855S|SENP7_ENST00000358203.3_Silent_p.S757S	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	921	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGACATATTCGACTCGGTAC	0.274													False	0	False	3:101047522	0	T	101047522	C	T	101047522	2	4	88	1	0	0	0	0	0	0	0	1	14132	871	31	1		1	SENP7	3	101047522	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196	101047522	96974908	4233	11945											
SENP7	57337	broad.mit.edu	37	chr3	101085608	101085608	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgttgagtcatcttcttgTtttttctaaacataaacaca	4	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101085608T>C	ENST00000394095.2	-	9	1037	c.984A>G	c.(982-984)aaA>aaG	p.K328K	SENP7_ENST00000394094.2_Silent_p.K263K|SENP7_ENST00000348610.3_Silent_p.K295K|SENP7_ENST00000394091.1_Silent_p.K164K|SENP7_ENST00000314261.7_Silent_p.K262K|SENP7_ENST00000358203.3_Silent_p.K164K	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	328					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CATCTTCTTGTTTTTTCTAAA	0.274													False	0	True	3:101085608	0	C	101085608	T	C	101085608	2	2	88	1	0	0	0	0	0	0	0	1	14132	1722	60	4		4	SENP7	3	101085608	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38086	101085608	96936822	4234	11946											
SENP7	57337	broad.mit.edu	37	chr3	101090890	101090890	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atattaaaagagaaatgccaTcatcctttcttcgtttttct	4	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101090890T>G	ENST00000394095.2	-	7	811	c.758A>C	c.(757-759)gAt>gCt	p.D253A	SENP7_ENST00000394094.2_Missense_Mutation_p.D188A|SENP7_ENST00000348610.3_Missense_Mutation_p.D220A|SENP7_ENST00000394091.1_Missense_Mutation_p.D89A|SENP7_ENST00000314261.7_Missense_Mutation_p.D187A|SENP7_ENST00000358203.3_Missense_Mutation_p.D89A	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	253					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGAAATGCCATCATCCTTTCT	0.338													False	0	False	3:101090890	0	G	101090890	T	G	101090890	3	3	88	1	0	0	0	0	1	0	0	0	14132	1435	50	4	2466	4	SENP7	3	101090890	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5282	101090890	96931540	4235	11947											
SENP7	57337	broad.mit.edu	37	chr3	101136544	101136544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgcaccttgttggcatcAcataaattagcatcgtttct	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101136544A>C	ENST00000394095.2	-	5	428	c.375T>G	c.(373-375)tgT>tgG	p.C125W	SENP7_ENST00000394094.2_Missense_Mutation_p.C125W|SENP7_ENST00000348610.3_Missense_Mutation_p.C92W|SENP7_ENST00000394091.1_Intron|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000358203.3_Intron	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	125					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTTGGCATCACATAAATTAG	0.398													False	0	False	3:101136544	0	C	101136544	A	C	101136544	3	2	88	1	0	0	0	0	1	0	0	0	14132	157	6	4	2857	4	SENP7	3	101136544	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45654	101136544	96885886	4236	11948											
ZBTB11	27107	broad.mit.edu	37	chr3	101373562	101373562	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttactgagtacaatgataGcctcgaacctcaggctttgg	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101373562G>T	ENST00000312938.4	-	8	2875	c.2295C>A	c.(2293-2295)ggC>ggA	p.G765G		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	765					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACAATGATAGCCTCGAACCT	0.353													False	0	False	3:101373562	0	T	101373562	G	T	101373562	2	4	88	1	0	0	0	0	0	0	0	1	17607	958	34	3		3	ZBTB11	3	101373562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237018	101373562	96648868	4237	11949											
ZBTB11	27107	broad.mit.edu	37	chr3	101383834	101383834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgctgacttgggaacggCtttccgtttctgcagctttt	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101383834C>T	ENST00000312938.4	-	4	2177	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTGGGAACGGCTTTCCGTTTC	0.408													False	0	True	3:101383834	0	T	101383834	C	T	101383834	3	4	88	1	0	0	0	0	1	0	0	0	17607	797	28	2	1596	2	ZBTB11	3	101383834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10272	101383834	96638596	4238	11950											
CEP97	79598	broad.mit.edu	37	chr3	101476949	101476949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaaggatgataaccacaGtcttacattttttcctgagt	7	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101476949G>A	ENST00000341893.3	+	9	2251	c.1499G>A	c.(1498-1500)aGt>aAt	p.S500N	CEP97_ENST00000327230.4_Missense_Mutation_p.S500N|CEP97_ENST00000494050.1_Missense_Mutation_p.S441N			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	500	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATAACCACAGTCTTACATTT	0.358													False	0	False	3:101476949	0	A	101476949	G	A	101476949	3	1	88	1	0	0	0	0	1	0	0	0	3286	1029	36	2	1533	2	CEP97	3	101476949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93115	101476949	96545481	4239	11951											
CEP97	79598	broad.mit.edu	37	chr3	101481366	101481366	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaacgtattaaaaaaTttgtacaagaagaagctttc	7	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101481366T>A	ENST00000341893.3	+	10	2607	c.1855T>A	c.(1855-1857)Ttt>Att	p.F619I	CEP97_ENST00000327230.4_Missense_Mutation_p.F619I|CEP97_ENST00000494050.1_Missense_Mutation_p.F560I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	619	CEP110 binding.					centrosome|nucleus	protein binding	p.F619I(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TATTAAAAAATTTGTACAAGA	0.333													False	0	True	3:101481366	0	A	101481366	T	A	101481366	3	1	88	1	0	0	0	0	1	0	0	0	3286	1493	52	5	1893	5	CEP97	3	101481366	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4417	101481366	96541064	4240	11952											
NFKBIZ	64332	broad.mit.edu	37	chr3	101570965	101570965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttggcaggcagcagagagGcccctttcaaggtgttcggg	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101570965G>A	ENST00000326172.5	+	2	441	c.326G>A	c.(325-327)gGc>gAc	p.G109D	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G109D|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G9D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAGCAGAGAGGCCCCTTTCAA	0.433													False	0	True	3:101570965	0	A	101570965	G	A	101570965	3	1	88	1	0	0	0	0	1	0	0	0	10451	1203	42	2	332	2	NFKBIZ	3	101570965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89599	101570965	96451465	4241	11953											
CBLB	868	broad.mit.edu	37	chr3	105572504	105572504	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtttgggattttggcacagtCttacctaaaaacaaagataa	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:105572504C>T	ENST00000264122.4	-	3	494	c.173G>A	c.(172-174)aGa>aAa	p.R58K	CBLB_ENST00000405772.1_Missense_Mutation_p.R58K|CBLB_ENST00000545639.1_Missense_Mutation_p.R80K|CBLB_ENST00000403724.1_Missense_Mutation_p.R58K|CBLB_ENST00000394027.3_Missense_Mutation_p.R80K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	58	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTGGCACAGTCTTACCTAAAA	0.274			Mis S		AML								False	0	False	3:105572504	0	T	105572504	C	T	105572504	3	4	88	1	0	0	0	0	1	0	0	0	2721	913	32	2	2843	2	CBLB	3	105572504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4001539	105572504	92449926	4242	11954											
BBX	56987	broad.mit.edu	37	chr3	107524307	107524307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcgctgaccagtgaagCgccctttcattgtaaaacat	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:107524307C>T	ENST00000416476.2	+	17	2040	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	BBX_ENST00000402543.1_3'UTR|BBX_ENST00000325805.8_3'UTR|BBX_ENST00000406780.1_3'UTR|BBX_ENST00000415149.2_3'UTR			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACCAGTGAAGCGCCCTTTCAT	0.468													False	0	False	3:107524307	0	T	107524307	C	T	107524307	3	4	88	1	0	0	0	0	1	0	0	0	1347	783	27	1		1	BBX	3	107524307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1951803	107524307	90498123	4243	11955											
IFT57	55081	broad.mit.edu	37	chr3	107885720	107885720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcactcagctgggcttgaGctgcacgatattcttgaacc	9	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:107885720G>A	ENST00000264538.3	-	8	1209	c.962C>T	c.(961-963)gCt>gTt	p.A321V	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	321					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CTGGGCTTGAGCTGCACGATA	0.368													False	0	False	3:107885720	0	A	107885720	G	A	107885720	3	1	88	1	0	0	0	0	1	0	0	0	7612	971	34	2	343	2	IFT57	3	107885720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	361413	107885720	90136710	4244	11956											
MYH15	22989	broad.mit.edu	37	chr3	108133184	108133184	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataaggtccggtgcagctcaGccttgacctcttgttcttcc	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108133184G>T	ENST00000273353.3	-	31	4156	c.4100C>A	c.(4099-4101)gCt>gAt	p.A1367D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1367						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTGCAGCTCAGCCTTGACCTC	0.507													False	0	False	3:108133184	0	T	108133184	G	T	108133184	3	4	88	1	0	0	0	0	1	0	0	0	10101	971	34	3	1788	3	MYH15	3	108133184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247464	108133184	89889246	4245	11957											
MYH15	22989	broad.mit.edu	37	chr3	108183499	108183499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccactcctgcataatGgacaagttcaaaatgagctt	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108183499G>A	ENST00000273353.3	-	16	1833	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	593	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGCATAATGGACAAGTTCA	0.413													False	0	False	3:108183499	0	A	108183499	G	A	108183499	3	1	88	1	0	0	0	0	1	0	0	0	10101	1348	47	2	4171	2	MYH15	3	108183499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50315	108183499	89838931	4246	11958											
MYH15	22989	broad.mit.edu	37	chr3	108214643	108214643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaaacgagaggagttgTcatttctcagggttttagca	10	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108214643T>C	ENST00000273353.3	-	8	811	c.755A>G	c.(754-756)gAc>gGc	p.D252G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	252	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGAGGAGTTGTCATTTCTCAG	0.348													False	0	False	3:108214643	0	C	108214643	T	C	108214643	3	2	88	1	0	0	0	0	1	0	0	0	10101	1667	58	4	5225	4	MYH15	3	108214643	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31144	108214643	89807787	4247	11959											
MYH15	22989	broad.mit.edu	37	chr3	108214691	108214691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcttccaagatagtattcGcttgcatgatttgatcttct	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108214691G>A	ENST00000273353.3	-	8	763	c.707C>T	c.(706-708)gCg>gTg	p.A236V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	236	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GATAGTATTCGCTTGCATGAT	0.383													False	0	False	3:108214691	0	A	108214691	G	A	108214691	3	1	88	1	0	0	0	0	1	0	0	0	10101	1087	38	1	5273	1	MYH15	3	108214691	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	108214691	89807739	4248	11960											
KIAA1524	57650	broad.mit.edu	37	chr3	108308205	108308205	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggagcaaggacttcaaGcaggcagtggagtccattgc	14	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108308205G>T	ENST00000295746.8	-	1	94	c.18C>A	c.(16-18)tgC>tgA	p.C6*	KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	6						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGACTTCAAGCAGGCAGTGG	0.602													False	0	True	3:108308205	0	T	108308205	G	T	108308205	4	4	88	1	0	0	0	0	0	1	0	0	8289	963	34	3	2783	3	KIAA1524	3	108308205	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93514	108308205	89714225	4249	11961											
DZIP3	9666	broad.mit.edu	37	chr3	108335411	108335411	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaagttgcagctaacagccaGaatggtgaggaaattgttcc	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108335411G>A	ENST00000361582.3	+	5	512	c.282G>A	c.(280-282)caG>caA	p.Q94Q	DZIP3_ENST00000463306.1_Silent_p.Q94Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	94					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTAACAGCCAGAATGGTGAGG	0.348													False	0	False	3:108335411	0	A	108335411	G	A	108335411	2	1	88	1	0	0	0	0	0	0	0	1	4895	933	33	2		2	DZIP3	3	108335411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27206	108335411	89687019	4250	11962											
DZIP3	9666	broad.mit.edu	37	chr3	108363438	108363438	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgaatggtctcactgaGtcacagttcaattcaatttg	8	7	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108363438G>A	ENST00000361582.3	+	14	1799	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	DZIP3_ENST00000463306.1_Silent_p.E523E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	523					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTCTCACTGAGTCACAGTTCA	0.408													False	0	False	3:108363438	0	A	108363438	G	A	108363438	2	1	88	1	0	0	0	0	0	0	0	1	4895	1020	36	2		2	DZIP3	3	108363438	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28027	108363438	89658992	4251	11963											
DZIP3	9666	broad.mit.edu	37	chr3	108366893	108366893	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagatacagtttgcagaAattaataaagatgggacctc	9	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108366893A>C	ENST00000361582.3	+	16	2126	c.1896A>C	c.(1894-1896)gaA>gaC	p.E632D	DZIP3_ENST00000463306.1_Missense_Mutation_p.E632D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	632					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGTTTGCAGAAATTAATAAAG	0.348													False	0	True	3:108366893	0	C	108366893	A	C	108366893	3	2	88	1	0	0	0	0	1	0	0	0	4895	11	1	4	1954	4	DZIP3	3	108366893	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3455	108366893	89655537	4252	11964											
DZIP3	9666	broad.mit.edu	37	chr3	108381086	108381086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taatcaacaagttgcttttgGaatcaataaggtttccaagt	7	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108381086G>A	ENST00000361582.3	+	21	2635	c.2405G>A	c.(2404-2406)gGa>gAa	p.G802E	DZIP3_ENST00000463306.1_Missense_Mutation_p.G802E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	802					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.G802E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTTGCTTTTGGAATCAATAAG	0.333													False	0	False	3:108381086	0	A	108381086	G	A	108381086	3	1	88	1	0	0	0	0	1	0	0	0	4895	1174	41	2	2483	2	DZIP3	3	108381086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14193	108381086	89641344	4253	11965											
RETNLB	84666	broad.mit.edu	37	chr3	108474713	108474713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgaacatcccacgaaCcacagccatagccacaagca	6	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108474713C>T	ENST00000295755.6	-	3	446	c.248G>A	c.(247-249)gGt>gAt	p.G83D	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	83					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						ATCCCACGAACCACAGCCATA	0.577													False	0	False	3:108474713	0	T	108474713	C	T	108474713	3	4	88	1	0	0	0	0	1	0	0	0	13316	507	18	2	91	2	RETNLB	3	108474713	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93627	108474713	89547717	4254	11966											
RETNLB	84666	broad.mit.edu	37	chr3	108474750	108474750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcacagccagtgacagccaTccctgcatgagcacatgaag	10	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108474750T>C	ENST00000295755.6	-	3	409	c.211A>G	c.(211-213)Atg>Gtg	p.M71V	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	71					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTGACAGCCATCCCTGCATGA	0.547													False	0	True	3:108474750	0	C	108474750	T	C	108474750	3	2	88	1	0	0	0	0	1	0	0	0	13316	1435	50	4	128	4	RETNLB	3	108474750	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37	108474750	89547680	4255	11967											
TRAT1	50852	broad.mit.edu	37	chr3	108572597	108572597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaactacatgcaatagatgCcagcgtttctaagaccacct	7	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108572597C>A	ENST00000295756.6	+	6	664	c.434C>A	c.(433-435)gCc>gAc	p.A145D	TRAT1_ENST00000426646.1_Missense_Mutation_p.A108D	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	145					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GCAATAGATGCCAGCGTTTCT	0.448													False	0	False	3:108572597	0	A	108572597	C	A	108572597	3	1	88	1	0	0	0	0	1	0	0	0	16549	739	26	3	456	3	TRAT1	3	108572597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97847	108572597	89449833	4256	11968											
GUCA1C	9626	broad.mit.edu	37	chr3	108634989	108634989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attaccatcattgtttatatCgatcttatggaacaccaagt	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108634989C>T	ENST00000261047.3	-	3	559	c.427G>A	c.(427-429)Gat>Aat	p.D143N	GUCA1C_ENST00000393963.3_Missense_Mutation_p.D143N|GUCA1C_ENST00000471108.1_Missense_Mutation_p.D143N	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	143	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	p.D143Y(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TTGTTTATATCGATCTTATGG	0.418													False	0	False	3:108634989	0	T	108634989	C	T	108634989	3	4	88	1	0	0	0	0	1	0	0	0	6937	884	31	1	210	1	GUCA1C	3	108634989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62392	108634989	89387441	4257	11969											
MORC1	27136	broad.mit.edu	37	chr3	108703566	108703566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgtagtacactcaccttTtccagctaggtaatgaagag	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108703566T>C	ENST00000232603.5	-	23	2403	c.2321A>G	c.(2320-2322)aAa>aGa	p.K774R	MORC1_ENST00000483760.1_Missense_Mutation_p.K753R	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	774					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTCACCTTTTCCAGCTAGG	0.338													False	0	True	3:108703566	0	C	108703566	T	C	108703566	3	2	88	1	0	0	0	0	1	0	0	0	9768	1841	64	4	657	4	MORC1	3	108703566	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	68577	108703566	89318864	4258	11970											
MORC1	27136	broad.mit.edu	37	chr3	108778706	108778706	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctacatcttccaaagctctCtgtaatacatcctggagaaa	5	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108778706C>A	ENST00000232603.5	-	12	1060	c.978G>T	c.(976-978)caG>caT	p.Q326H	MORC1_ENST00000483760.1_Missense_Mutation_p.Q326H	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	326					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CCAAAGCTCTCTGTAATACAT	0.353													False	0	True	3:108778706	0	A	108778706	C	A	108778706	3	1	88	1	0	0	0	0	1	0	0	0	9768	912	32	3	2044	3	MORC1	3	108778706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75140	108778706	89243724	4259	11971											
MORC1	27136	broad.mit.edu	37	chr3	108818260	108818260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaaacacacaggtcatcGtttcttccttcttcgtaaaa	4	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108818260G>A	ENST00000232603.5	-	6	450	c.368C>T	c.(367-369)aCg>aTg	p.T123M	MORC1_ENST00000483760.1_Missense_Mutation_p.T123M	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	123					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACAGGTCATCGTTTCTTCCTT	0.343													False	0	True	3:108818260	0	A	108818260	G	A	108818260	3	1	88	1	0	0	0	0	1	0	0	0	9768	1145	40	1	2678	1	MORC1	3	108818260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39554	108818260	89204170	4260	11972											
DPPA2	151871	broad.mit.edu	37	chr3	109026937	109026937	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggaacatgaattcaaagcCttaggctgaacagctcttgc	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:109026937C>A	ENST00000478945.1	-	6	846	c.600G>T	c.(598-600)aaG>aaT	p.K200N		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	200						nucleus	nucleic acid binding	p.K200K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATTCAAAGCCTTAGGCTGAA	0.463													False	0	False	3:109026937	0	A	109026937	C	A	109026937	3	1	88	1	0	0	0	0	1	0	0	0	4764	680	24	3	308	3	DPPA2	3	109026937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208677	109026937	88995493	4261	11973											
PHLDB2	90102	broad.mit.edu	37	chr3	111603011	111603011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgcattctgttgagaaCgattcccaaaacatgatgga	11	7	1	2	rs147548065	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603011C>T	ENST00000431670.2	+	2	498	c.87C>T	c.(85-87)aaC>aaT	p.N29N	PHLDB2_ENST00000477695.1_Silent_p.N29N|PHLDB2_ENST00000393925.3_Silent_p.N29N|PHLDB2_ENST00000481953.1_Silent_p.N29N|PHLDB2_ENST00000393923.3_Silent_p.N56N|PHLDB2_ENST00000412622.1_Silent_p.N29N|PHLDB2_ENST00000478922.1_Silent_p.N29N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	29						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTGTTGAGAACGATTCCCAAA	0.413													False	0	False	3:111603011	0	T	111603011	C	T	111603011	2	4	88	1	0	0	0	0	0	0	0	1	11921	535	19	1		1	PHLDB2	3	111603011	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2576074	111603011	86419419	4262	11974											
PHLDB2	90102	broad.mit.edu	37	chr3	111603040	111603040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacatgatggagagcctcaGcccaaagaaatactcttcca	7	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603040G>A	ENST00000431670.2	+	2	527	c.116G>A	c.(115-117)aGc>aAc	p.S39N	PHLDB2_ENST00000477695.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S39N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S66N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S39N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S39N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	39						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGAGCCTCAGCCCAAAGAAA	0.433													False	0	True	3:111603040	0	A	111603040	G	A	111603040	3	1	88	1	0	0	0	0	1	0	0	0	11921	971	34	2	203	2	PHLDB2	3	111603040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	111603040	86419390	4263	11975											
PHLDB2	90102	broad.mit.edu	37	chr3	111603154	111603154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccttctcctttgggaaCcagtgtcagaagcagcccct	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603154C>T	ENST00000431670.2	+	2	641	c.230C>T	c.(229-231)aCc>aTc	p.T77I	PHLDB2_ENST00000477695.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T77I|PHLDB2_ENST00000481953.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T104I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T77I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.T77I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	77						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCTTTGGGAACCAGTGTCAGA	0.458													False	0	False	3:111603154	0	T	111603154	C	T	111603154	3	4	88	1	0	0	0	0	1	0	0	0	11921	507	18	2	317	2	PHLDB2	3	111603154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114	111603154	86419276	4264	11976											
PHLDB2	90102	broad.mit.edu	37	chr3	111603559	111603559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaagccaggaaaatgaGcattcaggacagcctggcgc	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603559G>A	ENST00000431670.2	+	2	1046	c.635G>A	c.(634-636)aGc>aAc	p.S212N	PHLDB2_ENST00000477695.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S212N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S239N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S212N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S212N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	212						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGAAAATGAGCATTCAGGAC	0.512													False	0	False	3:111603559	0	A	111603559	G	A	111603559	3	1	88	1	0	0	0	0	1	0	0	0	11921	971	34	2	722	2	PHLDB2	3	111603559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	405	111603559	86418871	4265	11977											
PHLDB2	90102	broad.mit.edu	37	chr3	111604339	111604339	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccttggagatggactccaGgatatgtgggaatataggat	14	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111604339G>T	ENST00000478922.1	+	2	1558	c.1415G>T	c.(1414-1416)aGg>aTg	p.R472M	PHLDB2_ENST00000477695.1_Intron|PHLDB2_ENST00000393925.3_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000412622.1_Intron			Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	0						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATGGACTCCAGGATATGTGGG	0.438													False	0	False	3:111604339	0	T	111604339	G	T	111604339	3	4	88	1	0	0	0	0	1	0	0	0	11921	1015	35	3		3	PHLDB2	3	111604339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	780	111604339	86418091	4266	11978											
PHLDB2	90102	broad.mit.edu	37	chr3	111639200	111639200	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaacttatgaaggagaaggaGattttggatcatctaaaccg	11	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111639200G>A	ENST00000431670.2	+	5	2346	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	PHLDB2_ENST00000393925.3_Silent_p.E645E|PHLDB2_ENST00000481953.1_Silent_p.E645E|PHLDB2_ENST00000393923.3_Silent_p.E672E|PHLDB2_ENST00000412622.1_Silent_p.E645E|PHLDB2_ENST00000495180.1_Silent_p.E231E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	645						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGAGAAGGAGATTTTGGATC	0.353													False	0	False	3:111639200	0	A	111639200	G	A	111639200	2	1	88	1	0	0	0	0	0	0	0	1	11921	933	33	2		2	PHLDB2	3	111639200	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34861	111639200	86383230	4267	11979											
PHLDB2	90102	broad.mit.edu	37	chr3	111658331	111658331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctccaaaggatgctgacCtgttggatgttgaaagcaaa	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111658331C>T	ENST00000431670.2	+	7	2551	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L	PHLDB2_ENST00000393925.3_Silent_p.L714L|PHLDB2_ENST00000481953.1_Silent_p.L671L|PHLDB2_ENST00000393923.3_Silent_p.L698L|PHLDB2_ENST00000412622.1_Silent_p.L671L|PHLDB2_ENST00000495180.1_Silent_p.L300L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	714						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGATGCTGACCTGTTGGATGT	0.403													False	0	False	3:111658331	0	T	111658331	C	T	111658331	2	4	88	1	0	0	0	0	0	0	0	1	11921	680	24	2		2	PHLDB2	3	111658331	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19131	111658331	86364099	4268	11980											
PHLDB2	90102	broad.mit.edu	37	chr3	111658364	111658364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaaacactttgaagacCtggagttccagcagcttgaa	9	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111658364C>A	ENST00000431670.2	+	7	2584	c.2173C>A	c.(2173-2175)Ctg>Atg	p.L725M	PHLDB2_ENST00000393925.3_Missense_Mutation_p.L725M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.L682M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.L709M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.L682M|PHLDB2_ENST00000495180.1_Missense_Mutation_p.L311M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	725						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTTTGAAGACCTGGAGTTCCA	0.428													False	0	False	3:111658364	0	A	111658364	C	A	111658364	3	1	88	1	0	0	0	0	1	0	0	0	11921	680	24	3	2280	3	PHLDB2	3	111658364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	111658364	86364066	4269	11981											
PHLDB2	90102	broad.mit.edu	37	chr3	111693325	111693325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgacagaatctattataTggtagccccatcgccagaag	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111693325T>C	ENST00000431670.2	+	18	4088	c.3677T>C	c.(3676-3678)aTg>aCg	p.M1226T	PHLDB2_ENST00000393925.3_Missense_Mutation_p.M1226T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M1183T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M1183T|PHLDB2_ENST00000495180.1_Missense_Mutation_p.M717T|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M1210T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1226	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATCTATTATATGGTAGCCCCA	0.398													False	0	False	3:111693325	0	C	111693325	T	C	111693325	3	2	88	1	0	0	0	0	1	0	0	0	11921	1464	51	4	3828	4	PHLDB2	3	111693325	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34961	111693325	86329105	4270	11982											
TMPRSS7	344805	broad.mit.edu	37	chr3	111782371	111782371	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgattttttgttgcccataGcctgccctgttggatctttt	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111782371G>T	ENST00000452346.2	+	12	1450		c.e12-1		TMPRSS7_ENST00000419127.1_Splice_Site			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7						proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTTGCCCATAGCCTGCCCTGT	0.413													False	0	False	3:111782371	0	T	111782371	G	T	111782371	5	4	88	1	0	0	0	0	0	0	1	0	16334	985	34	3	1103	3	TMPRSS7	3	111782371	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89046	111782371	86240059	4271	11983											
SLC35A5	55032	broad.mit.edu	37	chr3	112299496	112299496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcacaacttggcaggaCgtggatttcatcacgatgcc	10	11	2	0	rs144280370		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112299496C>T	ENST00000492406.1	+	6	815	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	178						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	p.R178S(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CTTGGCAGGACGTGGATTTCA	0.463													False	0	False	3:112299496	0	T	112299496	C	T	112299496	3	4	88	1	0	0	0	0	1	0	0	0	14654	536	19	1	550	1	SLC35A5	3	112299496	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	517125	112299496	85722934	4272	11984											
CCDC80	151887	broad.mit.edu	37	chr3	112358493	112358493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctggcggctctgttgggCgagctagtctcaacacgggc	17	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112358493C>T	ENST00000206423.3	-	2	1213	c.260G>A	c.(259-261)cGc>cAc	p.R87H	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.R87H	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	87										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTCTGTTGGGCGAGCTAGTCT	0.602													False	0	True	3:112358493	0	T	112358493	C	T	112358493	3	4	88	1	0	0	0	0	1	0	0	0	2875	768	27	1	2620	1	CCDC80	3	112358493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58997	112358493	85663937	4273	11985											
C3orf17	25871	broad.mit.edu	37	chr3	112729539	112729539	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaagccctcacatcaaatTctgatgactcttctgtggag	8	10	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112729539T>G	ENST00000314400.5	-	7	1117	c.926A>C	c.(925-927)gAa>gCa	p.E309A	C3orf17_ENST00000472762.1_5'UTR|C3orf17_ENST00000393857.2_Missense_Mutation_p.E173A|C3orf17_ENST00000383675.2_Missense_Mutation_p.E239A	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	309						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CACATCAAATTCTGATGACTC	0.363													False	0	False	3:112729539	0	G	112729539	T	G	112729539	3	3	88	1	0	0	0	0	1	0	0	0	2226	1783	62	4	789	4	C3orf17	3	112729539	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	371046	112729539	85292891	4274	11986											
C3orf17	25871	broad.mit.edu	37	chr3	112736342	112736342	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcccattctgttgtgatTgctgtaaaggactgcacata	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112736342T>G	ENST00000314400.5	-	2	405	c.214A>C	c.(214-216)Aat>Cat	p.N72H	C3orf17_ENST00000393857.2_Intron|C3orf17_ENST00000383675.2_Missense_Mutation_p.N72H	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	72						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CTGTTGTGATTGCTGTAAAGG	0.468													False	0	False	3:112736342	0	G	112736342	T	G	112736342	3	3	88	1	0	0	0	0	1	0	0	0	2226	1812	63	4	1521	4	C3orf17	3	112736342	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6803	112736342	85286088	4275	11987											
C3orf17	25871	broad.mit.edu	37	chr3	112736400	112736400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaaggtttggctcttcagCgacagtatgacgagatggca	12	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112736400C>T	ENST00000314400.5	-	2	347	c.156G>A	c.(154-156)tcG>tcA	p.S52S	C3orf17_ENST00000393857.2_Intron|C3orf17_ENST00000383675.2_Silent_p.S52S	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	52						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GGCTCTTCAGCGACAGTATGA	0.418													False	0	False	3:112736400	0	T	112736400	C	T	112736400	2	4	88	1	0	0	0	0	0	0	0	1	2226	755	27	1		1	C3orf17	3	112736400	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58	112736400	85286030	4276	11988											
BOC	91653	broad.mit.edu	37	chr3	112993336	112993336	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggcaaccggcgctccccaGacccccaacgtcagtggggc	14	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112993336G>A	ENST00000495514.1	+	9	2053	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K	BOC_ENST00000273395.4_Missense_Mutation_p.R450K|BOC_ENST00000355385.3_Missense_Mutation_p.R450K|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	450					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCGCTCCCCAGACCCCCAACG	0.667													False	0	False	3:112993336	0	A	112993336	G	A	112993336	3	1	88	1	0	0	0	0	1	0	0	0	1486	942	33	2	1375	2	BOC	3	112993336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256936	112993336	85029094	4277	11989											
BOC	91653	broad.mit.edu	37	chr3	112998114	112998114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccccagaagctcccgacaGgcccaccatctccacggcct	8	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112998114G>T	ENST00000495514.1	+	12	2536	c.1832G>T	c.(1831-1833)aGg>aTg	p.R611M	BOC_ENST00000273395.4_Missense_Mutation_p.R612M|BOC_ENST00000355385.3_Missense_Mutation_p.R611M|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	611	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCTCCCGACAGGCCCACCATC	0.587													False	0	False	3:112998114	0	T	112998114	G	T	112998114	3	4	88	1	0	0	0	0	1	0	0	0	1486	1000	35	3	1870	3	BOC	3	112998114	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4778	112998114	85024316	4278	11990											
WDR52	55779	broad.mit.edu	37	chr3	113115561	113115561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcctacaataatttgtgctCcagtgaagtttaccttggag	8	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113115561C>T	ENST00000393845.2	-	14	1649	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E	WDR52_ENST00000295868.2_Missense_Mutation_p.G528E|WDR52_ENST00000475568.1_5'UTR	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	528										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AATTTGTGCTCCAGTGAAGTT	0.338													False	0	False	3:113115561	0	T	113115561	C	T	113115561	3	4	88	1	0	0	0	0	1	0	0	0	17388	855	30	2	4084	2	WDR52	3	113115561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117447	113115561	84906869	4279	11991											
WDR52	55779	broad.mit.edu	37	chr3	113120491	113120491	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatagagaagagattcacAttcttgtctacttgaagttc	7	7	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113120491A>G	ENST00000393845.2	-	10	1332	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	WDR52_ENST00000295868.2_Silent_p.N422N	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	422										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AGAGATTCACATTCTTGTCTA	0.353													False	0	False	3:113120491	0	G	113120491	A	G	113120491	2	3	88	1	0	0	0	0	0	0	0	1	17388	214	8	4		4	WDR52	3	113120491	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4930	113120491	84901939	4280	11992											
KIAA2018	205717	broad.mit.edu	37	chr3	113374605	113374605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggatgccttgatctctggGgaactgaagaattagcttga	14	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113374605G>A	ENST00000316407.4	-	7	6334	c.5924C>T	c.(5923-5925)cCc>cTc	p.P1975L	KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1975L|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1975					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGATCTCTGGGGAACTGAAGA	0.493													False	0	True	3:113374605	0	A	113374605	G	A	113374605	3	1	88	1	0	0	0	0	1	0	0	0	8318	1232	43	2	817	2	KIAA2018	3	113374605	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	254114	113374605	84647825	4281	11993											
KIAA2018	205717	broad.mit.edu	37	chr3	113375352	113375352	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaggcggatatctgagGccacagtatggtccacacga	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113375352G>T	ENST00000316407.4	-	7	5587	c.5177C>A	c.(5176-5178)gCc>gAc	p.A1726D	KIAA2018_ENST00000478658.1_Missense_Mutation_p.A1726D|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1726					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATATCTGAGGCCACAGTATG	0.408													False	0	False	3:113375352	0	T	113375352	G	T	113375352	3	4	88	1	0	0	0	0	1	0	0	0	8318	1203	42	3	1564	3	KIAA2018	3	113375352	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	747	113375352	84647078	4282	11994											
GRAMD1C	54762	broad.mit.edu	37	chr3	113563463	113563463	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttaaaaaacaggggccaaaTttacataattggagtggtga	11	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113563463T>A	ENST00000358160.4	+	2	633	c.141T>A	c.(139-141)aaT>aaA	p.N47K	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	47						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGGGGCCAAATTTACATAATT	0.368													False	0	True	3:113563463	0	A	113563463	T	A	113563463	3	1	88	1	0	0	0	0	1	0	0	0	6796	1490	52	5	147	5	GRAMD1C	3	113563463	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	188111	113563463	84458967	4283	11995											
GRAMD1C	54762	broad.mit.edu	37	chr3	113623099	113623099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcagaaacagagtcattcGatggaaattcatcaaaagga	8	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113623099G>A	ENST00000358160.4	+	8	1261	c.769G>A	c.(769-771)Gat>Aat	p.D257N	GRAMD1C_ENST00000452134.2_De_novo_Start_InFrame|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.D90N|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.D52N	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	257						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGAGTCATTCGATGGAAATTC	0.348													False	0	False	3:113623099	0	A	113623099	G	A	113623099	3	1	88	1	0	0	0	0	1	0	0	0	6796	1058	37	1	799	1	GRAMD1C	3	113623099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59636	113623099	84399331	4284	11996											
KIAA1407	57577	broad.mit.edu	37	chr3	113697720	113697720	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacctgtagccagctctgGatgactctcttaagcagtat	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113697720G>A	ENST00000295878.3	-	15	2591	c.2445C>T	c.(2443-2445)atC>atT	p.I815I	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	815										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCAGCTCTGGATGACTCTCT	0.418													False	0	False	3:113697720	0	A	113697720	G	A	113697720	2	1	88	1	0	0	0	0	0	0	0	1	8279	1164	41	2		2	KIAA1407	3	113697720	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74621	113697720	84324710	4285	11997											
KIAA1407	57577	broad.mit.edu	37	chr3	113720481	113720481	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcgttttctttcaagCtgtgcctccttttcttctgc	5	13	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113720481C>A	ENST00000295878.3	-	13	2270	c.2124G>T	c.(2122-2124)caG>caT	p.Q708H	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	708										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTCTTTCAAGCTGTGCCTCCT	0.443													False	0	False	3:113720481	0	A	113720481	C	A	113720481	3	1	88	1	0	0	0	0	1	0	0	0	8279	796	28	3	706	3	KIAA1407	3	113720481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22761	113720481	84301949	4286	11998											
DRD3	1814	broad.mit.edu	37	chr3	113858410	113858410	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtcgagtgaggatccttttCcgtctcctttgtttcagcac	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113858410C>A	ENST00000383673.2	-	5	1090	c.660G>T	c.(658-660)cgG>cgT	p.R220R	DRD3_ENST00000467632.1_Silent_p.R220R|DRD3_ENST00000295881.7_Silent_p.R220R|DRD3_ENST00000460779.1_Silent_p.R220R	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	220					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGATCCTTTTCCGTCTCCTTT	0.507													False	0	True	3:113858410	0	A	113858410	C	A	113858410	2	1	88	1	0	0	0	0	0	0	0	1	4788	842	30	3		3	DRD3	3	113858410	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137929	113858410	84164020	4287	11999											
ZNF80	7634	broad.mit.edu	37	chr3	113955909	113955909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtccccaacccatcgcGtttagggctcatcttcctcc	6	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113955909G>A	ENST00000482457.2	-	1	516	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	5						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R5>?(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AACCCATCGCGTTTAGGGCTC	0.542													False	0	True	3:113955909	0	A	113955909	G	A	113955909	3	1	88	1	0	0	0	0	1	0	0	0	18250	1145	40	1	812	1	ZNF80	3	113955909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97499	113955909	84066521	4288	12000											
TIGIT	201633	broad.mit.edu	37	chr3	114018494	114018494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgcttggagccatggccGcgacgctggtggtcatctgc	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114018494G>A	ENST00000481065.1	+	4	3258	c.643G>A	c.(643-645)Gcg>Acg	p.A215T	TIGIT_ENST00000383671.3_Missense_Mutation_p.A148T|TIGIT_ENST00000486257.1_Missense_Mutation_p.A148T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	148					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						AGCCATGGCCGCGACGCTGGT	0.582													False	0	False	3:114018494	0	A	114018494	G	A	114018494	3	1	88	1	0	0	0	0	1	0	0	0	15984	1087	38	1	452	1	TIGIT	3	114018494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62585	114018494	84003936	4289	12001											
ZBTB20	26137	broad.mit.edu	37	chr3	114058034	114058034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgctggcactgtgcagggCcacgtgtcgctccaggaggg	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114058034C>T	ENST00000462705.1	-	12	2646	c.1825G>A	c.(1825-1827)Gcc>Acc	p.A609T	ZBTB20_ENST00000474710.1_Missense_Mutation_p.A682T|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A609T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A609T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A609T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A609T	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTGTGCAGGGCCACGTGTCGC	0.647													False	0	True	3:114058034	0	T	114058034	C	T	114058034	3	4	88	1	0	0	0	0	1	0	0	0	17612	739	26	2	185	2	ZBTB20	3	114058034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39540	114058034	83964396	4290	12002											
ZBTB20	26137	broad.mit.edu	37	chr3	114069698	114069698	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcttctgcagcctgctcGggttgggtgggttcagcctg	18	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114069698G>A	ENST00000462705.1	-	11	1829	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	ZBTB20_ENST00000474710.1_Silent_p.P409P|ZBTB20_ENST00000357258.3_Silent_p.P336P|ZBTB20_ENST00000393785.2_Silent_p.P336P|ZBTB20_ENST00000464560.1_Silent_p.P336P|ZBTB20_ENST00000481632.1_Silent_p.P336P|ZBTB20_ENST00000471418.1_Silent_p.P336P	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CAGCCTGCTCGGGTTGGGTGG	0.637													False	0	True	3:114069698	0	A	114069698	G	A	114069698	2	1	88	1	0	0	0	0	0	0	0	1	17612	1103	39	1		1	ZBTB20	3	114069698	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11664	114069698	83952732	4291	12003											
ZBTB20	26137	broad.mit.edu	37	chr3	114069836	114069836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcactctcggtgccctcGgcctggtctgtgtcttccgt	12	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114069836G>A	ENST00000462705.1	-	11	1691	c.870C>T	c.(868-870)gcC>gcT	p.A290A	ZBTB20_ENST00000474710.1_Silent_p.A363A|ZBTB20_ENST00000357258.3_Silent_p.A290A|ZBTB20_ENST00000393785.2_Silent_p.A290A|ZBTB20_ENST00000464560.1_Silent_p.A290A|ZBTB20_ENST00000481632.1_Silent_p.A290A|ZBTB20_ENST00000471418.1_Silent_p.A290A	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGTGCCCTCGGCCTGGTCTG	0.602													False	0	False	3:114069836	0	A	114069836	G	A	114069836	2	1	88	1	0	0	0	0	0	0	0	1	17612	1103	39	1		1	ZBTB20	3	114069836	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138	114069836	83952594	4292	12004											
ZBTB20	26137	broad.mit.edu	37	chr3	114070337	114070337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggaacacatcgcccacGttctgtgacacgatgcgcgt	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070337G>A	ENST00000462705.1	-	11	1190	c.369C>T	c.(367-369)aaC>aaT	p.N123N	ZBTB20_ENST00000474710.1_Silent_p.N196N|ZBTB20_ENST00000357258.3_Silent_p.N123N|ZBTB20_ENST00000393785.2_Silent_p.N123N|ZBTB20_ENST00000464560.1_Silent_p.N123N|ZBTB20_ENST00000481632.1_Silent_p.N123N|ZBTB20_ENST00000471418.1_Silent_p.N123N	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	196	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATCGCCCACGTTCTGTGACA	0.647													False	0	False	3:114070337	0	A	114070337	G	A	114070337	2	1	88	1	0	0	0	0	0	0	0	1	17612	1136	40	1		1	ZBTB20	3	114070337	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	501	114070337	83952093	4293	12005											
ZBTB20	26137	broad.mit.edu	37	chr3	114070553	114070553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggaagaaggggctgccGgctgccagcacgcagcggtg	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070553G>A	ENST00000462705.1	-	11	974	c.153C>T	c.(151-153)gcC>gcT	p.A51A	ZBTB20_ENST00000474710.1_Silent_p.A124A|ZBTB20_ENST00000357258.3_Silent_p.A51A|ZBTB20_ENST00000393785.2_Silent_p.A51A|ZBTB20_ENST00000464560.1_Silent_p.A51A|ZBTB20_ENST00000481632.1_Silent_p.A51A|ZBTB20_ENST00000471418.1_Silent_p.A51A	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGGGGCTGCCGGCTGCCAGCA	0.607													False	0	True	3:114070553	0	A	114070553	G	A	114070553	2	1	88	1	0	0	0	0	0	0	0	1	17612	1103	39	1		1	ZBTB20	3	114070553	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216	114070553	83951877	4294	12006											
ZBTB20	26137	broad.mit.edu	37	chr3	114070695	114070695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggttgatgctgtgaatgCgctcggtcatccccttgcaa	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070695C>T	ENST00000462705.1	-	11	832	c.11G>A	c.(10-12)cGc>cAc	p.R4H	ZBTB20_ENST00000474710.1_Missense_Mutation_p.R77H|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R4H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R4H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R4H	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R4H(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTGTGAATGCGCTCGGTCAT	0.537													False	0	False	3:114070695	0	T	114070695	C	T	114070695	3	4	88	1	0	0	0	0	1	0	0	0	17612	768	27	1	2003	1	ZBTB20	3	114070695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142	114070695	83951735	4295	12007											
GAP43	2596	broad.mit.edu	37	chr3	115395064	115395064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccctgttgccgatggggtgGagaagaagggagaaggcacc	17	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115395064G>A	ENST00000393780.3	+	3	811	c.343G>A	c.(343-345)Gag>Aag	p.E115K	GAP43_ENST00000305124.6_Missense_Mutation_p.E79K	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	79					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	p.E79Q(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CGATGGGGTGGAGAAGAAGGG	0.537													False	0	False	3:115395064	0	A	115395064	G	A	115395064	3	1	88	1	0	0	0	0	1	0	0	0	6278	1175	41	2	383	2	GAP43	3	115395064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1324369	115395064	82627366	4296	12008											
GAP43	2596	broad.mit.edu	37	chr3	115395285	115395285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccactgataactcgccGtcctccaaggctgaagatgc	9	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115395285G>A	ENST00000393780.3	+	3	1032	c.564G>A	c.(562-564)ccG>ccA	p.P188P	GAP43_ENST00000305124.6_Silent_p.P152P	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	152					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		ATAACTCGCCGTCCTCCAAGG	0.617													False	0	False	3:115395285	0	A	115395285	G	A	115395285	2	1	88	1	0	0	0	0	0	0	0	1	6278	1132	40	1		1	GAP43	3	115395285	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221	115395285	82627145	4297	12009											
LSAMP	4045	broad.mit.edu	37	chr3	115805293	115805293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtattccagagaatggCgtttctccagctcaacccgt	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115805293C>T	ENST00000490035.2	-	2	765	c.266G>A	c.(265-267)cGc>cAc	p.R89H	LSAMP_ENST00000539563.1_Missense_Mutation_p.R86H	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein		Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CAGAGAATGGCGTTTCTCCAG	0.512													False	0	False	3:115805293	0	T	115805293	C	T	115805293	3	4	88	1	0	0	0	0	1	0	0	0	9110	768	27	1	774	1	LSAMP	3	115805293	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410008	115805293	82217137	4298	12010											
ARHGAP31	57514	broad.mit.edu	37	chr3	119084170	119084170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttacatagttccataCgttttgaagagctgtgcaga	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119084170C>T	ENST00000264245.4	+	2	640	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	36	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TAGTTCCATACGTTTTGAAGA	0.363													False	0	False	3:119084170	0	T	119084170	C	T	119084170	2	4	88	1	0	0	0	0	0	0	0	1	882	547	19	1		1	ARHGAP31	3	119084170	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3278877	119084170	78938260	4299	12011											
ARHGAP31	57514	broad.mit.edu	37	chr3	119084190	119084190	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttttgaagagctgtgcagAatttatagagactcacggca	11	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119084190A>C	ENST00000264245.4	+	2	660	c.128A>C	c.(127-129)gAa>gCa	p.E43A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	43	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCTGTGCAGAATTTATAGAG	0.358													False	0	False	3:119084190	0	C	119084190	A	C	119084190	3	2	88	1	0	0	0	0	1	0	0	0	882	246	9	4	134	4	ARHGAP31	3	119084190	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20	119084190	78938240	4300	12012											
ARHGAP31	57514	broad.mit.edu	37	chr3	119128481	119128481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccccagaaagctccttgaGctctcaacatttaaatgaat	5	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119128481G>A	ENST00000264245.4	+	11	2316	c.1784G>A	c.(1783-1785)aGc>aAc	p.S595N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	595					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCTCCTTGAGCTCTCAACAT	0.567													False	0	False	3:119128481	0	A	119128481	G	A	119128481	3	1	88	1	0	0	0	0	1	0	0	0	882	971	34	2	1826	2	ARHGAP31	3	119128481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44291	119128481	78893949	4301	12013											
ARHGAP31	57514	broad.mit.edu	37	chr3	119132980	119132980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcttccacagcagccaGcagagagaagccggaacctg	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119132980G>A	ENST00000264245.4	+	12	2736	c.2204G>A	c.(2203-2205)aGc>aAc	p.S735N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	735	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACAGCAGCCAGCAGAGAGAAG	0.592													False	0	True	3:119132980	0	A	119132980	G	A	119132980	3	1	88	1	0	0	0	0	1	0	0	0	882	971	34	2	2250	2	ARHGAP31	3	119132980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4499	119132980	78889450	4302	12014											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133927	119133927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagctagggacacacctgGggcacagcagtccacagatt	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119133927G>T	ENST00000264245.4	+	12	3683	c.3151G>T	c.(3151-3153)Ggg>Tgg	p.G1051W		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1051					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GACACACCTGGGGCACAGCAG	0.602													False	0	True	3:119133927	0	T	119133927	G	T	119133927	3	4	88	1	0	0	0	0	1	0	0	0	882	1232	43	3	3197	3	ARHGAP31	3	119133927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	947	119133927	78888503	4303	12015											
TMEM39A	55254	broad.mit.edu	37	chr3	119156786	119156786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tattaaactgttcttttagcGactccagcaacaaggagaga	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119156786G>A	ENST00000319172.5	-	6	1160	c.740C>T	c.(739-741)tCg>tTg	p.S247L	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	247			S -> L (in a breast cancer sample; somatic mutation).			integral to membrane		p.S247L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		TTCTTTTAGCGACTCCAGCAA	0.483													False	0	False	3:119156786	0	A	119156786	G	A	119156786	3	1	88	1	0	0	0	0	1	0	0	0	16243	1059	37	1	742	1	TMEM39A	3	119156786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22859	119156786	78865644	4304	12016											
TMEM39A	55254	broad.mit.edu	37	chr3	119171296	119171296	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagtcaatgaactgttacctCtgagatgagagcccatacaa	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119171296C>A	ENST00000319172.5	-	4	838	c.418G>T	c.(418-420)Gag>Tag	p.E140*	TMEM39A_ENST00000486159.1_Intron	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	140						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACTGTTACCTCTGAGATGAGA	0.383													False	0	True	3:119171296	0	A	119171296	C	A	119171296	4	1	88	1	0	0	0	0	0	1	0	0	16243	922	32	3	1072	3	TMEM39A	3	119171296	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14510	119171296	78851134	4305	12017											
CD80	941	broad.mit.edu	37	chr3	119263445	119263445	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgttcccgcttgaaagcgtCtttttcatacttcagaacaa	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119263445C>A	ENST00000264246.3	-	3	732	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	CD80_ENST00000383668.3_Missense_Mutation_p.D124Y|CD80_ENST00000383669.3_Missense_Mutation_p.D124Y|CD80_ENST00000478182.1_Missense_Mutation_p.D124Y	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	124	Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	TTGAAAGCGTCTTTTTCATAC	0.463													False	0	True	3:119263445	0	A	119263445	C	A	119263445	3	1	88	1	0	0	0	0	1	0	0	0	3061	913	32	3	512	3	CD80	3	119263445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92149	119263445	78758985	4306	12018											
POPDC2	64091	broad.mit.edu	37	chr3	119379151	119379151	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accccactgccccccatgaaGcccaggagtaagaggcagtt	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119379151G>T	ENST00000493094.1	-	1	579	c.120C>A	c.(118-120)ggC>ggA	p.G40G	POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000538678.1_Silent_p.G40G|POPDC2_ENST00000468801.1_Silent_p.G40G|POPDC2_ENST00000264231.3_Silent_p.G40G			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	40						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCCCCATGAAGCCCAGGAGTA	0.572													False	0	True	3:119379151	0	T	119379151	G	T	119379151	2	4	88	1	0	0	0	0	0	0	0	1	12324	958	34	3		3	POPDC2	3	119379151	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115706	119379151	78643279	4307	12019											
COX17	10063	broad.mit.edu	37	chr3	119394074	119394074	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgttcttctcctttctcGatgatactataaaacaaaat	4	9	3	1	rs143622776	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119394074G>A	ENST00000261070.2	-	2	206	c.114C>T	c.(112-114)atC>atT	p.I38I	COX17_ENST00000484810.1_Silent_p.I73I|COX17_ENST00000497116.1_Silent_p.I38I	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone	38					copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		CTCCTTTCTCGATGATACTAT	0.363													False	0	False	3:119394074	0	A	119394074	G	A	119394074	2	1	88	1	0	0	0	0	0	0	0	1	3789	1048	37	1		1	COX17	3	119394074	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14923	119394074	78628356	4308	12020											
NR1I2	8856	broad.mit.edu	37	chr3	119533866	119533866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatctccctgctgaaggggGccgctttcgagctgtgtcaa	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119533866G>A	ENST00000393716.2	+	6	2674	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	NR1I2_ENST00000466380.1_Missense_Mutation_p.A242T|NR1I2_ENST00000337940.4_Missense_Mutation_p.A318T	NM_003889.3	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	279	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GCTGAAGGGGGCCGCTTTCGA	0.612													False	0	True	3:119533866	0	A	119533866	G	A	119533866	3	1	88	1	0	0	0	0	1	0	0	0	10688	1203	42	2	974	2	NR1I2	3	119533866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139792	119533866	78488564	4309	12021											
NR1I2	8856	broad.mit.edu	37	chr3	119536008	119536008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcatccaggacatacaCccctttgctacgcccctcat	6	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119536008C>T	ENST00000393716.2	+	9	3093	c.1254C>T	c.(1252-1254)caC>caT	p.H418H	NR1I2_ENST00000466380.1_Silent_p.H381H|NR1I2_ENST00000337940.4_Silent_p.H457H	NM_003889.3	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	418	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	AGGACATACACCCCTTTGCTA	0.602													False	0	True	3:119536008	0	T	119536008	C	T	119536008	2	4	88	1	0	0	0	0	0	0	0	1	10688	506	18	2		2	NR1I2	3	119536008	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2142	119536008	78486422	4310	12022											
GSK3B	2932	broad.mit.edu	37	chr3	119812208	119812208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcactgctaactttcatgCtgccaaaagctgaaggctgc	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119812208C>T	ENST00000264235.8	-	1	1056	c.74G>A	c.(73-75)aGc>aAc	p.S25N	GSK3B_ENST00000316626.5_Missense_Mutation_p.S25N	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	25					axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	AACTTTCATGCTGCCAAAAGC	0.468													False	0	False	3:119812208	0	T	119812208	C	T	119812208	3	4	88	1	0	0	0	0	1	0	0	0	6871	797	28	2	1275	2	GSK3B	3	119812208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	276200	119812208	78210222	4311	12023											
NDUFB4	4710	broad.mit.edu	37	chr3	120315332	120315332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttggccataagagcccaGctgaaacgagagtacctgct	12	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120315332G>A	ENST00000485064.1	+	1	158	c.126G>A	c.(124-126)caG>caA	p.Q42Q	NDUFB4_ENST00000492739.1_Silent_p.Q42Q|NDUFB4_ENST00000184266.2_Silent_p.Q42Q	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	42					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	TAAGAGCCCAGCTGAAACGAG	0.632													False	0	False	3:120315332	0	A	120315332	G	A	120315332	2	1	88	1	0	0	0	0	0	0	0	1	10351	962	34	2		2	NDUFB4	3	120315332	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	503124	120315332	77707098	4312	12024											
HGD	3081	broad.mit.edu	37	chr3	120360511	120360511	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggtgtataattcccgtgCcaggccacaacattgaacgg	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120360511C>T	ENST00000283871.5	-	11	1263	c.804G>A	c.(802-804)tgG>tgA	p.W268*		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	268					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AATTCCCGTGCCAGGCCACAA	0.433													False	0	False	3:120360511	0	T	120360511	C	T	120360511	4	4	88	1	0	0	0	0	0	1	0	0	7131	740	26	2	549	2	HGD	3	120360511	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45179	120360511	77661919	4313	12025											
HGD	3081	broad.mit.edu	37	chr3	120365164	120365164	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacaccatagacctccaagAtgtagcccctggtctcctca	8	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120365164A>G	ENST00000283871.5	-	9	1058	c.599T>C	c.(598-600)aTc>aCc	p.I200T		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	200					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GACCTCCAAGATGTAGCCCCT	0.478													False	0	False	3:120365164	0	G	120365164	A	G	120365164	3	3	88	1	0	0	0	0	1	0	0	0	7131	333	12	4	762	4	HGD	3	120365164	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4653	120365164	77657266	4314	12026											
RABL3	285282	broad.mit.edu	37	chr3	120428633	120428633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaaatgttttaccatttaCggagttgtagaatactgctc	7	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120428633C>T	ENST00000273375.3	-	3	291	c.262G>A	c.(262-264)Gta>Ata	p.V88I	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.V88I	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	88	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TTACCATTTACGGAGTTGTAG	0.383													False	0	False	3:120428633	0	T	120428633	C	T	120428633	3	4	88	1	0	0	0	0	1	0	0	0	13051	536	19	1	472	1	RABL3	3	120428633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63469	120428633	77593797	4315	12027											
GTF2E1	2960	broad.mit.edu	37	chr3	120469705	120469705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcgtactcttgttaatgtGgtaaaatataaactggacca	7	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120469705G>A	ENST00000283875.5	+	2	399	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	102	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TTGTTAATGTGGTAAAATATA	0.413													False	0	False	3:120469705	0	A	120469705	G	A	120469705	2	1	88	1	0	0	0	0	0	0	0	1	6903	1335	47	2		2	GTF2E1	3	120469705	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41072	120469705	77552725	4316	12028											
GTF2E1	2960	broad.mit.edu	37	chr3	120499984	120499984	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgagcactgctcattcacgaGaaaaagacttcctctgccat	7	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120499984G>T	ENST00000283875.5	+	5	1080	c.987G>T	c.(985-987)gaG>gaT	p.E329D		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	329					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TCATTCACGAGAAAAAGACTT	0.567													False	0	True	3:120499984	0	T	120499984	G	T	120499984	3	4	88	1	0	0	0	0	1	0	0	0	6903	933	33	3	1001	3	GTF2E1	3	120499984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30279	120499984	77522446	4317	12029											
STXBP5L	9515	broad.mit.edu	37	chr3	120941850	120941850	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgttttttcctatgtagCgaaccattcataatattctc	4	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120941850C>T	ENST00000273666.6	+	11	1228	c.957C>T	c.(955-957)agC>agT	p.S319S	STXBP5L_ENST00000472879.1_Splice_Site_p.S319S|STXBP5L_ENST00000492541.1_Splice_Site_p.S319S|STXBP5L_ENST00000497029.1_Splice_Site_p.S319S|STXBP5L_ENST00000471454.1_Splice_Site_p.S319S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	319					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCCTATGTAGCGAACCATTCA	0.368													False	0	False	3:120941850	0	T	120941850	C	T	120941850	5	4	88	1	0	0	0	0	0	0	1	0	15439	782	27	1	995	1	STXBP5L	3	120941850	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441866	120941850	77080580	4318	12030											
STXBP5L	9515	broad.mit.edu	37	chr3	120976165	120976165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggagtaacaaaggacaGtattccatgcctcaagtaag	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120976165G>A	ENST00000273666.6	+	17	2088	c.1817G>A	c.(1816-1818)aGt>aAt	p.S606N	STXBP5L_ENST00000472879.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S606N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S606N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	606					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACAAAGGACAGTATTCCATGC	0.373													False	0	False	3:120976165	0	A	120976165	G	A	120976165	3	1	88	1	0	0	0	0	1	0	0	0	15439	1029	36	2	1879	2	STXBP5L	3	120976165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34315	120976165	77046265	4319	12031											
STXBP5L	9515	broad.mit.edu	37	chr3	121126092	121126092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccaattgtttttataggtAcattcctctcattgaaagga	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121126092A>G	ENST00000273666.6	+	24	2933	c.2662A>G	c.(2662-2664)Aca>Gca	p.T888A	STXBP5L_ENST00000472879.1_Missense_Mutation_p.T864A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.T888A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.T862A|STXBP5L_ENST00000471454.1_Missense_Mutation_p.T864A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	888					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTTATAGGTACATTCCTCTC	0.363													False	0	False	3:121126092	0	G	121126092	A	G	121126092	3	3	88	1	0	0	0	0	1	0	0	0	15439	391	14	4	2752	4	STXBP5L	3	121126092	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	149927	121126092	76896338	4320	12032											
STXBP5L	9515	broad.mit.edu	37	chr3	121126378	121126378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatcttttatactgcaagCaaatgtggtggtcatgtgta	10	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121126378C>T	ENST00000273666.6	+	24	3219	c.2948C>T	c.(2947-2949)gCa>gTa	p.A983V	STXBP5L_ENST00000472879.1_Missense_Mutation_p.A959V|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A983V|STXBP5L_ENST00000497029.1_Missense_Mutation_p.A957V|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A959V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	983					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATACTGCAAGCAAATGTGGTG	0.403													False	0	True	3:121126378	0	T	121126378	C	T	121126378	3	4	88	1	0	0	0	0	1	0	0	0	15439	710	25	2	3038	2	STXBP5L	3	121126378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286	121126378	76896052	4321	12033											
STXBP5L	9515	broad.mit.edu	37	chr3	121132069	121132069	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacagacatgaggatagcaCgaacattttgttttaccaat	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121132069C>T	ENST00000273666.6	+	25	3356	c.3085C>T	c.(3085-3087)Cga>Tga	p.R1029*	STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R1005*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1029					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAGGATAGCACGAACATTTTG	0.383													False	0	False	3:121132069	0	T	121132069	C	T	121132069	4	4	88	1	0	0	0	0	0	1	0	0	15439	528	19	1	3179	1	STXBP5L	3	121132069	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5691	121132069	76890361	4322	12034											
STXBP5L	9515	broad.mit.edu	37	chr3	121137938	121137938	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggataagaaatggtaccaAttctgacttctaaagaagct	8	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121137938A>C	ENST00000273666.6	+	28	3826	c.3555A>C	c.(3553-3555)caA>caC	p.Q1185H	STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q1161H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1185					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AATGGTACCAATTCTGACTTC	0.368													False	0	False	3:121137938	0	C	121137938	A	C	121137938	3	2	88	1	0	0	0	0	1	0	0	0	15439	98	4	4	3661	4	STXBP5L	3	121137938	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5869	121137938	76884492	4323	12035											
POLQ	10721	broad.mit.edu	37	chr3	121256050	121256050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtaattcatccacaaccaCcattcctaaaaagattttcc	2	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121256050C>T	ENST00000264233.5	-	5	765	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	213	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCACAACCACCATTCCTAAA	0.363								DNA polymerases (catalytic subunits)					False	0	False	3:121256050	0	T	121256050	C	T	121256050	3	4	88	1	0	0	0	0	1	0	0	0	12277	507	18	2	7239	2	POLQ	3	121256050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118112	121256050	76766380	4324	12036											
POLQ	10721	broad.mit.edu	37	chr3	121258312	121258312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttattttcctctatgaggCgattgatcagaccattggct	8	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121258312C>T	ENST00000264233.5	-	4	727	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	200	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.R333H(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCTATGAGGCGATTGATCAG	0.383								DNA polymerases (catalytic subunits)					False	0	False	3:121258312	0	T	121258312	C	T	121258312	3	4	88	1	0	0	0	0	1	0	0	0	12277	768	27	1	7281	1	POLQ	3	121258312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2262	121258312	76764118	4325	12037											
FBXO40	51725	broad.mit.edu	37	chr3	121341856	121341856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaaaaccatttccgtcCcccagggcaaaaggcaaaag	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121341856C>T	ENST00000338040.4	+	3	1994	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	527					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CATTTCCGTCCCCCAGGGCAA	0.502													False	0	True	3:121341856	0	T	121341856	C	T	121341856	3	4	88	1	0	0	0	0	1	0	0	0	5789	623	22	2	1586	2	FBXO40	3	121341856	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83544	121341856	76680574	4326	12038											
FBXO40	51725	broad.mit.edu	37	chr3	121341875	121341875	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccccagggcaaaaggcaaaAgtaatctatagccaggagct	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121341875A>G	ENST00000338040.4	+	3	2013	c.1599A>G	c.(1597-1599)aaA>aaG	p.K533K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	533					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAAAGGCAAAAGTAATCTATA	0.507													False	0	True	3:121341875	0	G	121341875	A	G	121341875	2	3	88	1	0	0	0	0	0	0	0	1	5789	69	3	4		4	FBXO40	3	121341875	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19	121341875	76680555	4327	12039											
GOLGB1	2804	broad.mit.edu	37	chr3	121386347	121386347	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgatctgctcctcggccacaGagagagcattctcagcagcc	10	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121386347G>T	ENST00000393667.3	-	20	9655	c.9545C>A	c.(9544-9546)tCt>tAt	p.S3182Y	GOLGB1_ENST00000340645.5_Missense_Mutation_p.S3172Y	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	3172					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCGGCCACAGAGAGAGCATT	0.498													False	0	True	3:121386347	0	T	121386347	G	T	121386347	3	4	88	1	0	0	0	0	1	0	0	0	6610	942	33	3	276	3	GOLGB1	3	121386347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44472	121386347	76636083	4328	12040											
GOLGB1	2804	broad.mit.edu	37	chr3	121400548	121400548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtacctgagctgatgcagCtcatgctgccaggagaggtt	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121400548C>T	ENST00000393667.3	-	15	8969	c.8859G>A	c.(8857-8859)gaG>gaA	p.E2953E	GOLGB1_ENST00000340645.5_Silent_p.E2948E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2948					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCTGATGCAGCTCATGCTGCC	0.373													False	0	False	3:121400548	0	T	121400548	C	T	121400548	2	4	88	1	0	0	0	0	0	0	0	1	6610	796	28	2		2	GOLGB1	3	121400548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14201	121400548	76621882	4329	12041											
GOLGB1	2804	broad.mit.edu	37	chr3	121410400	121410400	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaatctctttagataaaTcttgtttctcttcttgtagg	5	8	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121410400T>G	ENST00000393667.3	-	14	7921	c.7811A>C	c.(7810-7812)gAt>gCt	p.D2604A	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D2599A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2599					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTAGATAAATCTTGTTTCTC	0.373													False	0	True	3:121410400	0	G	121410400	T	G	121410400	3	3	88	1	0	0	0	0	1	0	0	0	6610	1435	50	4	2019	4	GOLGB1	3	121410400	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9852	121410400	76612030	4330	12042											
GOLGB1	2804	broad.mit.edu	37	chr3	121414124	121414124	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtctttctcagacattaaaGactgaaacttcttagaaagg	7	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121414124G>T	ENST00000393667.3	-	13	5356	c.5246C>A	c.(5245-5247)tCt>tAt	p.S1749Y	GOLGB1_ENST00000340645.5_Missense_Mutation_p.S1744Y	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1744					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.S1744C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGACATTAAAGACTGAAACTT	0.383													False	0	True	3:121414124	0	T	121414124	G	T	121414124	3	4	88	1	0	0	0	0	1	0	0	0	6610	942	33	3	4588	3	GOLGB1	3	121414124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3724	121414124	76608306	4331	12043											
GOLGB1	2804	broad.mit.edu	37	chr3	121414270	121414270	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgccctaagccggtcattCtcttcttccagctctaggat	7	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121414270C>T	ENST00000393667.3	-	13	5210	c.5100G>A	c.(5098-5100)gaG>gaA	p.E1700E	GOLGB1_ENST00000340645.5_Silent_p.E1695E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1695					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCCGGTCATTCTCTTCTTCCA	0.438													False	0	False	3:121414270	0	T	121414270	C	T	121414270	2	4	88	1	0	0	0	0	0	0	0	1	6610	912	32	2		2	GOLGB1	3	121414270	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146	121414270	76608160	4332	12044											
GOLGB1	2804	broad.mit.edu	37	chr3	121417334	121417334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaccaatatctggtacaGcagaaagggatttatcacca	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121417334G>A	ENST00000393667.3	-	13	2146	c.2036C>T	c.(2035-2037)gCt>gTt	p.A679V	GOLGB1_ENST00000340645.5_Missense_Mutation_p.A674V	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	674					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATCTGGTACAGCAGAAAGGGA	0.363													False	0	False	3:121417334	0	A	121417334	G	A	121417334	3	1	88	1	0	0	0	0	1	0	0	0	6610	971	34	2	7798	2	GOLGB1	3	121417334	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3064	121417334	76605096	4333	12045											
IQCB1	9657	broad.mit.edu	37	chr3	121489343	121489343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgagatgggcctgcttgGccttggctgccacaggcctg	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121489343G>A	ENST00000310864.6	-	15	1860	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	549					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GGCCTGCTTGGCCTTGGCTGC	0.502													False	0	True	3:121489343	0	A	121489343	G	A	121489343	3	1	88	1	0	0	0	0	1	0	0	0	7853	1203	42	2	154	2	IQCB1	3	121489343	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72009	121489343	76533087	4334	12046											
IQCB1	9657	broad.mit.edu	37	chr3	121509063	121509063	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acatctttgatcgtttggatCtgtgatggaaacagtgtgtt	11	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121509063C>A	ENST00000310864.6	-	11	1201		c.e11-1		IQCB1_ENST00000349820.6_Splice_Site	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1						cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCGTTTGGATCTGTGATGGAA	0.318													False	0	False	3:121509063	0	A	121509063	C	A	121509063	5	1	88	1	0	0	0	0	0	0	1	0	7853	927	32	3	830	3	IQCB1	3	121509063	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19720	121509063	76513367	4335	12047											
CD86	942	broad.mit.edu	37	chr3	121810499	121810499	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggccttcctgctctctggTaagaacctttcagctttgtt	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121810499T>C	ENST00000330540.2	+	2	180		c.e2+2		CD86_ENST00000393627.2_Splice_Site|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000493101.1_Splice_Site|CD86_ENST00000469710.1_Intron|CD86_ENST00000264468.5_Splice_Site	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule						interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TGCTCTCTGGTAAGAACCTTT	0.438													False	0	False	3:121810499	0	C	121810499	T	C	121810499	5	2	88	1	0	0	0	0	0	0	1	0	3066	1652	57	4	72	4	CD86	3	121810499	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	301436	121810499	76211931	4336	12048											
CASR	846	broad.mit.edu	37	chr3	121980530	121980530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacaattgcagctgatgaCgactatgggcggccggggat	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121980530C>T	ENST00000498619.1	+	4	1086	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CASR_ENST00000296154.5_Silent_p.D216D|CASR_ENST00000490131.1_Silent_p.D216D	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	216					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.D216D(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTGATGACGACTATGGGC	0.537													False	0	False	3:121980530	0	T	121980530	C	T	121980530	2	4	88	1	0	0	0	0	0	0	0	1	2702	535	19	1		1	CASR	3	121980530	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170031	121980530	76041900	4337	12049											
CASR	846	broad.mit.edu	37	chr3	121980656	121980656	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atccagcatgtggtagaggtGattcaaaattccacggccaa	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121980656G>A	ENST00000498619.1	+	4	1212	c.774G>A	c.(772-774)gtG>gtA	p.V258V	CASR_ENST00000296154.5_Silent_p.V258V|CASR_ENST00000490131.1_Silent_p.V258V	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	258					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGTAGAGGTGATTCAAAATT	0.498													False	0	False	3:121980656	0	A	121980656	G	A	121980656	2	1	88	1	0	0	0	0	0	0	0	1	2702	1277	45	2		2	CASR	3	121980656	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	121980656	76041774	4338	12050											
CASR	846	broad.mit.edu	37	chr3	122002644	122002644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacggagccctttgggatcGcactcaccctctttgccgtg	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122002644G>A	ENST00000498619.1	+	7	2311	c.1873G>A	c.(1873-1875)Gca>Aca	p.A625T	CASR_ENST00000296154.5_Missense_Mutation_p.A615T|CASR_ENST00000490131.1_Missense_Mutation_p.A615T	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	615					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTTGGGATCGCACTCACCCT	0.537													False	0	False	3:122002644	0	A	122002644	G	A	122002644	3	1	88	1	0	0	0	0	1	0	0	0	2702	1087	38	1	1895	1	CASR	3	122002644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21988	122002644	76019786	4339	12051											
CASR	846	broad.mit.edu	37	chr3	122002933	122002933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtttgaggccaagatccCcaccagcttccaccgcaagt	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122002933C>T	ENST00000498619.1	+	7	2600	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	CASR_ENST00000296154.5_Missense_Mutation_p.P711L|CASR_ENST00000490131.1_Missense_Mutation_p.P711L	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	711					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCAAGATCCCCACCAGCTTC	0.572													False	0	True	3:122002933	0	T	122002933	C	T	122002933	3	4	88	1	0	0	0	0	1	0	0	0	2702	623	22	2	2184	2	CASR	3	122002933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289	122002933	76019497	4340	12052											
CASR	846	broad.mit.edu	37	chr3	122003168	122003168	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggctgccatctgcttcttCtttgccttcaagtcccggaa	8	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122003168C>T	ENST00000498619.1	+	7	2835	c.2397C>T	c.(2395-2397)ttC>ttT	p.F799F	CASR_ENST00000296154.5_Silent_p.F789F|CASR_ENST00000490131.1_Silent_p.F789F	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	789					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTGCTTCTTCTTTGCCTTCA	0.537													False	0	True	3:122003168	0	T	122003168	C	T	122003168	2	4	88	1	0	0	0	0	0	0	0	1	2702	912	32	2		2	CASR	3	122003168	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	235	122003168	76019262	4341	12053											
FAM162A	26355	broad.mit.edu	37	chr3	122126163	122126163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgcaaagaacaagatgcGagtgaagatcagctatctaa	10	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122126163G>A	ENST00000477892.1	+	4	383	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	FAM162A_ENST00000232125.5_Missense_Mutation_p.R90Q|FAM162A_ENST00000469967.1_Missense_Mutation_p.R100Q	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	100						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						AACAAGATGCGAGTGAAGATC	0.423													False	0	False	3:122126163	0	A	122126163	G	A	122126163	3	1	88	1	0	0	0	0	1	0	0	0	5510	1058	37	1	313	1	FAM162A	3	122126163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122995	122126163	75896267	4342	12054											
WDR5B	54554	broad.mit.edu	37	chr3	122134224	122134224	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctagccattctccattaGgactaaacttaactgatgac	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122134224G>T	ENST00000330689.4	-	1	658	c.152C>A	c.(151-153)cCt>cAt	p.P51H		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	51										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TTCTCCATTAGGACTAAACTT	0.413													False	0	False	3:122134224	0	T	122134224	G	T	122134224	3	4	88	1	0	0	0	0	1	0	0	0	17393	1000	35	3	844	3	WDR5B	3	122134224	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8061	122134224	75888206	4343	12055											
PARP9	83666	broad.mit.edu	37	chr3	122274783	122274783	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taactctatcctaggagtcaGcatttttctgaacacttgca	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122274783G>T	ENST00000462315.1	-	4	528	c.235C>A	c.(235-237)Ctg>Atg	p.L79M	PARP9_ENST00000360356.2_Missense_Mutation_p.L114M|PARP9_ENST00000477522.2_Missense_Mutation_p.L79M|PARP9_ENST00000471785.1_Missense_Mutation_p.L79M|PARP9_ENST00000492382.1_Intron	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	114					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTAGGAGTCAGCATTTTTCTG	0.473													False	0	False	3:122274783	0	T	122274783	G	T	122274783	3	4	88	1	0	0	0	0	1	0	0	0	11534	962	34	3	2309	3	PARP9	3	122274783	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140559	122274783	75747647	4344	12056											
DTX3L	151636	broad.mit.edu	37	chr3	122288313	122288313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttactgaagtctttgggCaaggagagaaagcacttaca	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122288313C>T	ENST00000296161.4	+	3	1566	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	459					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AGTCTTTGGGCAAGGAGAGAA	0.388													False	0	True	3:122288313	0	T	122288313	C	T	122288313	2	4	88	1	0	0	0	0	0	0	0	1	4826	697	25	2		2	DTX3L	3	122288313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13530	122288313	75734117	4345	12057											
PARP15	165631	broad.mit.edu	37	chr3	122353966	122353966	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaataatgagagactcctcTtccatgggacagatgcagac	10	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122353966T>G	ENST00000483793.1	+	8	1127	c.1087T>G	c.(1087-1089)Ttc>Gtc	p.F363V	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.F255V|PARP15_ENST00000310366.4_Missense_Mutation_p.F324V|PARP15_ENST00000464300.2_Missense_Mutation_p.F558V			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	536	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GAGACTCCTCTTCCATGGGAC	0.418													False	0	False	3:122353966	0	G	122353966	T	G	122353966	3	3	88	1	0	0	0	0	1	0	0	0	11527	1609	56	4	1783	4	PARP15	3	122353966	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65653	122353966	75668464	4346	12058											
PARP14	54625	broad.mit.edu	37	chr3	122405935	122405935	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgtgtttcaggaatccaaGaccaaagaagatgttaaaga	9	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122405935G>A	ENST00000474629.2	+	3	596	c.330G>A	c.(328-330)aaG>aaA	p.K110K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGGAATCCAAGACCAAAGAAG	0.378													False	0	False	3:122405935	0	A	122405935	G	A	122405935	2	1	88	1	0	0	0	0	0	0	0	1	11526	933	33	2		2	PARP14	3	122405935	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51969	122405935	75616495	4347	12059											
PARP14	54625	broad.mit.edu	37	chr3	122411328	122411328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtggcctgtctaatgatgActttcaagtggaaataataa	9	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122411328A>C	ENST00000474629.2	+	4	802	c.536A>C	c.(535-537)gAc>gCc	p.D179A		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TCTAATGATGACTTTCAAGTG	0.373													False	0	False	3:122411328	0	C	122411328	A	C	122411328	3	2	88	1	0	0	0	0	1	0	0	0	11526	275	10	4	550	4	PARP14	3	122411328	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5393	122411328	75611102	4348	12060											
PARP14	54625	broad.mit.edu	37	chr3	122420074	122420074	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagcggatatgaggccccGaggtgtgtgtacctattaag	15	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122420074G>A	ENST00000474629.2	+	6	2939	c.2673G>A	c.(2671-2673)ccG>ccA	p.P891P		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	891	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ATGAGGCCCCGAGGTGTGTGT	0.552													False	0	True	3:122420074	0	A	122420074	G	A	122420074	2	1	88	1	0	0	0	0	0	0	0	1	11526	1045	37	1		1	PARP14	3	122420074	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8746	122420074	75602356	4349	12061											
PARP14	54625	broad.mit.edu	37	chr3	122422767	122422767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggaatctggactgtcGctatgtgcttcacgtggtag	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122422767G>A	ENST00000474629.2	+	7	3526	c.3260G>A	c.(3259-3261)cGc>cAc	p.R1087H		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1087	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTGGACTGTCGCTATGTGCTT	0.537													False	0	False	3:122422767	0	A	122422767	G	A	122422767	3	1	88	1	0	0	0	0	1	0	0	0	11526	1087	38	1	3286	1	PARP14	3	122422767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2693	122422767	75599663	4350	12062											
PARP14	54625	broad.mit.edu	37	chr3	122446723	122446723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaaaaaactatggatgCcaagaatggccagacaatga	9	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122446723C>T	ENST00000474629.2	+	16	5272	c.5006C>T	c.(5005-5007)gCc>gTc	p.A1669V		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1669	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ACTATGGATGCCAAGAATGGC	0.453													False	0	False	3:122446723	0	T	122446723	C	T	122446723	3	4	88	1	0	0	0	0	1	0	0	0	11526	739	26	2	5068	2	PARP14	3	122446723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23956	122446723	75575707	4351	12063											
HSPBAP1	79663	broad.mit.edu	37	chr3	122459627	122459627	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccatctgttctcagtgcttgGatttctactacctcagatgt	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122459627G>T	ENST00000306103.2	-	8	1175	c.1032C>A	c.(1030-1032)atC>atA	p.I344I	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	344						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCAGTGCTTGGATTTCTACTA	0.448													False	0	False	3:122459627	0	T	122459627	G	T	122459627	2	4	88	1	0	0	0	0	0	0	0	1	7475	1164	41	3		3	HSPBAP1	3	122459627	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12904	122459627	75562803	4352	12064											
HSPBAP1	79663	broad.mit.edu	37	chr3	122459673	122459673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgatcaaaaaatgcagaaAcagctgcatttaagtagcaa	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122459673A>C	ENST00000306103.2	-	8	1129	c.986T>G	c.(985-987)gTt>gGt	p.V329G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	329						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		AAATGCAGAAACAGCTGCATT	0.388													False	0	True	3:122459673	0	C	122459673	A	C	122459673	3	2	88	1	0	0	0	0	1	0	0	0	7475	43	2	4	484	4	HSPBAP1	3	122459673	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46	122459673	75562757	4353	12065											
HSPBAP1	79663	broad.mit.edu	37	chr3	122474183	122474183	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttaaatcaggattgacaAcattgattttactgaacaca	6	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122474183A>C	ENST00000306103.2	-	5	808	c.665T>G	c.(664-666)gTt>gGt	p.V222G	HSPBAP1_ENST00000383659.1_3'UTR|HSPBAP1_ENST00000465044.1_5'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	222	JmjC.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		AGGATTGACAACATTGATTTT	0.393													False	0	False	3:122474183	0	C	122474183	A	C	122474183	3	2	88	1	0	0	0	0	1	0	0	0	7475	43	2	4	817	4	HSPBAP1	3	122474183	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14510	122474183	75548247	4354	12066											
SEMA5B	54437	broad.mit.edu	37	chr3	122629748	122629748	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcccttgtagtgcaaaTggttgggggtggcaggatgg	17	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122629748T>C	ENST00000357599.3	-	22	3622	c.3236A>G	c.(3235-3237)cAt>cGt	p.H1079R	SEMA5B_ENST00000451055.2_Missense_Mutation_p.H1133R|SEMA5B_ENST00000195173.4_3'UTR	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1079					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTAGTGCAAATGGTTGGGGGT	0.532													False	0	True	3:122629748	0	C	122629748	T	C	122629748	3	2	88	1	0	0	0	0	1	0	0	0	14119	1464	51	4	227	4	SEMA5B	3	122629748	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	155565	122629748	75392682	4355	12067											
SEMA5B	54437	broad.mit.edu	37	chr3	122631763	122631763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggcccccgttgcggggCtccgggttagtgcacgttct	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122631763C>T	ENST00000195173.4	-	18	2952	c.2649G>A	c.(2647-2649)gaG>gaA	p.E883E	SEMA5B_ENST00000357599.3_Silent_p.E884E|SEMA5B_ENST00000451055.2_Silent_p.E938E			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	884	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGTTGCGGGGCTCCGGGTTAG	0.706													False	0	True	3:122631763	0	T	122631763	C	T	122631763	2	4	88	1	0	0	0	0	0	0	0	1	14119	796	28	2		2	SEMA5B	3	122631763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2015	122631763	75390667	4356	12068											
SEMA5B	54437	broad.mit.edu	37	chr3	122632714	122632714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccctcaccgttcctccCggctcttgcccacgcagatg	7	19	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122632714C>T	ENST00000195173.4	-	15	2426	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	SEMA5B_ENST00000357599.3_Missense_Mutation_p.R708Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R762Q			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	708	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCGTTCCTCCCGGCTCTTGCC	0.662													False	0	True	3:122632714	0	T	122632714	C	T	122632714	3	4	88	1	0	0	0	0	1	0	0	0	14119	652	23	1	1368	1	SEMA5B	3	122632714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	951	122632714	75389716	4357	12069											
SEMA5B	54437	broad.mit.edu	37	chr3	122634371	122634371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaatcacaggatcgagctCgacacaggcaagagcctgag	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122634371C>T	ENST00000195173.4	-	14	2207	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	SEMA5B_ENST00000357599.3_Missense_Mutation_p.R635Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R689Q			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	635					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGATCGAGCTCGACACAGGCA	0.622													False	0	False	3:122634371	0	T	122634371	C	T	122634371	3	4	88	1	0	0	0	0	1	0	0	0	14119	884	31	1	1591	1	SEMA5B	3	122634371	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1657	122634371	75388059	4358	12070											
SEMA5B	54437	broad.mit.edu	37	chr3	122642572	122642572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagcactgaggttgaaggcGcagacagcagaagccgcgat	14	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122642572G>A	ENST00000195173.4	-	10	1467	c.1164C>T	c.(1162-1164)tgC>tgT	p.C388C	SEMA5B_ENST00000357599.3_Silent_p.C388C|SEMA5B_ENST00000451055.2_Silent_p.C442C			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	388	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.C388C(1)|p.C442C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGTTGAAGGCGCAGACAGCAG	0.592													False	0	False	3:122642572	0	A	122642572	G	A	122642572	2	1	88	1	0	0	0	0	0	0	0	1	14119	1079	38	1		1	SEMA5B	3	122642572	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8201	122642572	75379858	4359	12071											
SEMA5B	54437	broad.mit.edu	37	chr3	122646797	122646797	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagttgtggcgtgggtcataGgggcagcgggccacaccatt	17	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122646797G>T	ENST00000195173.4	-	8	993	c.690C>A	c.(688-690)ccC>ccA	p.P230P	SEMA5B_ENST00000357599.3_Silent_p.P230P|SEMA5B_ENST00000451055.2_Silent_p.P284P			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	230	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTGGGTCATAGGGGCAGCGGG	0.612													False	0	True	3:122646797	0	T	122646797	G	T	122646797	2	4	88	1	0	0	0	0	0	0	0	1	14119	987	35	3		3	SEMA5B	3	122646797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4225	122646797	75375633	4360	12072											
SEC22A	26984	broad.mit.edu	37	chr3	122978426	122978426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccttggaacagcagcctGcctttaccaggtaggttttc	9	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122978426G>A	ENST00000309934.4	+	5	1609	c.713G>A	c.(712-714)tGc>tAc	p.C238Y	SEC22A_ENST00000481965.2_Missense_Mutation_p.A80T|SEC22A_ENST00000492595.1_Missense_Mutation_p.C238Y	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	238					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		ACAGCAGCCTGCCTTTACCAG	0.333													False	0	True	3:122978426	0	A	122978426	G	A	122978426	3	1	88	1	0	0	0	0	1	0	0	0	14069	1319	46	2	731	2	SEC22A	3	122978426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331629	122978426	75044004	4361	12073											
ADCY5	111	broad.mit.edu	37	chr3	123008674	123008674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcttcatggcaaagtcgGccagtgccttgatgtgggtc	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123008674G>A	ENST00000462833.1	-	19	4667	c.3455C>T	c.(3454-3456)gCc>gTc	p.A1152V	ADCY5_ENST00000309879.5_Missense_Mutation_p.A802V|ADCY5_ENST00000491190.1_Missense_Mutation_p.A810V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1152	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGCAAAGTCGGCCAGTGCCTT	0.552													False	0	False	3:123008674	0	A	123008674	G	A	123008674	3	1	88	1	0	0	0	0	1	0	0	0	297	1203	42	2	342	2	ADCY5	3	123008674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30248	123008674	75013756	4362	12074											
ADCY5	111	broad.mit.edu	37	chr3	123044174	123044174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagccactcaccatccGcttcatctccttggacacct	4	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123044174G>A	ENST00000462833.1	-	8	3295	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W	ADCY5_ENST00000309879.5_Missense_Mutation_p.R345W|ADCY5_ENST00000491190.1_Missense_Mutation_p.R328W	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	695					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTCACCATCCGCTTCATCTCC	0.627													False	0	False	3:123044174	0	A	123044174	G	A	123044174	3	1	88	1	0	0	0	0	1	0	0	0	297	1086	38	1	1758	1	ADCY5	3	123044174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35500	123044174	74978256	4363	12075											
ADCY5	111	broad.mit.edu	37	chr3	123047580	123047580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgagaccaaggacaccGcagtgtactcgcccgctgtg	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123047580G>A	ENST00000462833.1	-	6	2928	c.1716C>T	c.(1714-1716)tgC>tgT	p.C572C	ADCY5_ENST00000309879.5_Silent_p.C222C|ADCY5_ENST00000491190.1_Silent_p.C205C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	572	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAAGGACACCGCAGTGTACTC	0.592											OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	3:123047580	0	A	123047580	G	A	123047580	2	1	88	1	0	0	0	0	0	0	0	1	297	1079	38	1		1	ADCY5	3	123047580	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3406	123047580	74974850	4364	12076											
ADCY5	111	broad.mit.edu	37	chr3	123049816	123049816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcaggcagccccgagacGcagtaataacaatccccaag	9	14	1	1	rs148753023		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123049816G>A	ENST00000462833.1	-	5	2778	c.1566C>T	c.(1564-1566)tgC>tgT	p.C522C	ADCY5_ENST00000309879.5_Silent_p.C172C|ADCY5_ENST00000491190.1_Silent_p.C155C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	522	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCCCCGAGACGCAGTAATAAC	0.483													False	0	False	3:123049816	0	A	123049816	G	A	123049816	2	1	88	1	0	0	0	0	0	0	0	1	297	1079	38	1		1	ADCY5	3	123049816	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2236	123049816	74972614	4365	12077											
ADCY5	111	broad.mit.edu	37	chr3	123051430	123051430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggccagcttgtcaaagCgggcgaagagctcgttgagg	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123051430C>T	ENST00000462833.1	-	4	2711	c.1499G>A	c.(1498-1500)cGc>cAc	p.R500H	ADCY5_ENST00000309879.5_Missense_Mutation_p.R150H|ADCY5_ENST00000491190.1_Missense_Mutation_p.R133H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	500	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTTGTCAAAGCGGGCGAAGAG	0.632													False	0	True	3:123051430	0	T	123051430	C	T	123051430	3	4	88	1	0	0	0	0	1	0	0	0	297	768	27	1	2358	1	ADCY5	3	123051430	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1614	123051430	74971000	4366	12078											
PTPLB	201562	broad.mit.edu	37	chr3	123219521	123219521	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacactcccattgggtacaGcacaatgaaaagtgtgtacc	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123219521G>T	ENST00000383657.5	-	6	680	c.523C>A	c.(523-525)Ctg>Atg	p.L175M		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	175					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		ATTGGGTACAGCACAATGAAA	0.418													False	0	False	3:123219521	0	T	123219521	G	T	123219521	3	4	88	1	0	0	0	0	1	0	0	0	12854	962	34	3	249	3	PTPLB	3	123219521	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168091	123219521	74802909	4367	12079											
MYLK	4638	broad.mit.edu	37	chr3	123337592	123337592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttttcctcagcaacagcCtcaaggaaagcttgggacac	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123337592C>T	ENST00000360772.3	-	33	5619	c.5241G>A	c.(5239-5241)gaG>gaA	p.E1747E	MYLK_ENST00000578202.1_Silent_p.E37E|MYLK_ENST00000346322.5_Silent_p.E1729E|MYLK_ENST00000354792.5_Silent_p.E598E|MYLK_ENST00000583087.1_Silent_p.E38E|MYLK_ENST00000475616.1_Silent_p.E1798E|MYLK_ENST00000418370.2_Silent_p.E38E|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000360304.3_Silent_p.E1798E|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000359169.1_Silent_p.E1747E			Q15746	MYLK_HUMAN	myosin light chain kinase	1798	Calmodulin-binding.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCAACAGCCTCAAGGAAAG	0.443													False	0	False	3:123337592	0	T	123337592	C	T	123337592	2	4	88	1	0	0	0	0	0	0	0	1	10123	680	24	2		2	MYLK	3	123337592	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118071	123337592	74684838	4368	12080											
MYLK	4638	broad.mit.edu	37	chr3	123339123	123339123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggatttcctgccactgaGccctgagatcattgccatag	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123339123G>T	ENST00000360772.3	-	32	5524	c.5146C>A	c.(5146-5148)Ctc>Atc	p.L1716I	MYLK_ENST00000418370.2_Missense_Mutation_p.L7I|MYLK_ENST00000346322.5_Missense_Mutation_p.L1698I|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.L567I|MYLK_ENST00000359169.1_Missense_Mutation_p.L1716I|MYLK_ENST00000360304.3_Missense_Mutation_p.L1767I|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000475616.1_Missense_Mutation_p.L1767I|MYLK_ENST00000578202.1_Missense_Mutation_p.L7I|MYLK_ENST00000583087.1_Missense_Mutation_p.L7I			Q15746	MYLK_HUMAN	myosin light chain kinase	1767	Calmodulin-binding.|Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGCCACTGAGCCCTGAGATC	0.517													False	0	True	3:123339123	0	T	123339123	G	T	123339123	3	4	88	1	0	0	0	0	1	0	0	0	10123	971	34	3	457	3	MYLK	3	123339123	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1531	123339123	74683307	4369	12081											
MYLK	4638	broad.mit.edu	37	chr3	123348342	123348342	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatatctttcttcagcagaTtgctgatgaaatccttggca	7	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123348342T>G	ENST00000360304.3	-	30	5374	c.5093A>C	c.(5092-5094)aAt>aCt	p.N1698T	MYLK_ENST00000346322.5_Missense_Mutation_p.N1629T|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000354792.5_Missense_Mutation_p.N498T|MYLK_ENST00000359169.1_Intron|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000475616.1_Missense_Mutation_p.N1698T	NM_053025.3	NP_444253.3	Q15746	MYLK_HUMAN	myosin light chain kinase	1698	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCAGCAGATTGCTGATGAA	0.493													False	0	False	3:123348342	0	G	123348342	T	G	123348342	3	3	88	1	0	0	0	0	1	0	0	0	10123	1493	52	4	671	4	MYLK	3	123348342	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9219	123348342	74674088	4370	12082											
MYLK	4638	broad.mit.edu	37	chr3	123367851	123367851	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcaatgtcgtagaagtcaGatactttttgttcagtattg	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123367851G>A	ENST00000360772.3	-	27	4760	c.4382C>T	c.(4381-4383)tCt>tTt	p.S1461F	MYLK_ENST00000346322.5_Missense_Mutation_p.S1392F|MYLK_ENST00000354792.5_Missense_Mutation_p.S261F|MYLK_ENST00000359169.1_Missense_Mutation_p.S1461F|MYLK_ENST00000360304.3_Missense_Mutation_p.S1461F|MYLK_ENST00000475616.1_Missense_Mutation_p.S1461F			Q15746	MYLK_HUMAN	myosin light chain kinase	1461					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTAGAAGTCAGATACTTTTTG	0.512													False	0	False	3:123367851	0	A	123367851	G	A	123367851	3	1	88	1	0	0	0	0	1	0	0	0	10123	942	33	2	1398	2	MYLK	3	123367851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19509	123367851	74654579	4371	12083											
MYLK	4638	broad.mit.edu	37	chr3	123411611	123411611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttggcaggagcactccGcctggccagcgtcattcttg	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123411611G>A	ENST00000360772.3	-	20	3914	c.3536C>T	c.(3535-3537)gCg>gTg	p.A1179V	MYLK_ENST00000346322.5_Missense_Mutation_p.A1110V|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000359169.1_Missense_Mutation_p.A1179V|MYLK_ENST00000360304.3_Missense_Mutation_p.A1179V|MYLK_ENST00000475616.1_Missense_Mutation_p.A1179V			Q15746	MYLK_HUMAN	myosin light chain kinase	1179	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGAGCACTCCGCCTGGCCAGC	0.602													False	0	False	3:123411611	0	A	123411611	G	A	123411611	3	1	88	1	0	0	0	0	1	0	0	0	10123	1087	38	1	2272	1	MYLK	3	123411611	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43760	123411611	74610819	4372	12084											
MYLK	4638	broad.mit.edu	37	chr3	123427586	123427586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcggacctctccagcgCtgttccaggcctcgcaggtg	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123427586C>T	ENST00000360772.3	-	16	2477	c.2099G>A	c.(2098-2100)aGc>aAc	p.S700N	MYLK_ENST00000346322.5_Missense_Mutation_p.S631N|MYLK_ENST00000359169.1_Missense_Mutation_p.S700N|MYLK_ENST00000360304.3_Missense_Mutation_p.S700N|MYLK_ENST00000475616.1_Missense_Mutation_p.S700N			Q15746	MYLK_HUMAN	myosin light chain kinase	700	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCTCCAGCGCTGTTCCAGGC	0.602													False	0	False	3:123427586	0	T	123427586	C	T	123427586	3	4	88	1	0	0	0	0	1	0	0	0	10123	797	28	2	3725	2	MYLK	3	123427586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15975	123427586	74594844	4373	12085											
MYLK	4638	broad.mit.edu	37	chr3	123440981	123440981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggctcctaccatggaCggtgacccaggcgctgcagg	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123440981C>T	ENST00000360772.3	-	14	2176	c.1798G>A	c.(1798-1800)Gtc>Atc	p.V600I	MYLK_ENST00000346322.5_Missense_Mutation_p.V531I|MYLK_ENST00000359169.1_Missense_Mutation_p.V600I|MYLK_ENST00000360304.3_Missense_Mutation_p.V600I|MYLK_ENST00000475616.1_Missense_Mutation_p.V600I			Q15746	MYLK_HUMAN	myosin light chain kinase	600					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTACCATGGACGGTGACCCAG	0.582													False	0	False	3:123440981	0	T	123440981	C	T	123440981	3	4	88	1	0	0	0	0	1	0	0	0	10123	536	19	1	4034	1	MYLK	3	123440981	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13395	123440981	74581449	4374	12086											
MYLK	4638	broad.mit.edu	37	chr3	123452821	123452821	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagggtgatggagctggaaGtcttctgaaggaccggggtc	18	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123452821G>T	ENST00000360772.3	-	11	1400	c.1022C>A	c.(1021-1023)aCt>aAt	p.T341N	MYLK_ENST00000346322.5_Missense_Mutation_p.T341N|MYLK_ENST00000359169.1_Missense_Mutation_p.T341N|MYLK_ENST00000360304.3_Missense_Mutation_p.T341N|MYLK_ENST00000475616.1_Missense_Mutation_p.T341N			Q15746	MYLK_HUMAN	myosin light chain kinase	341					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGAGCTGGAAGTCTTCTGAAG	0.622													False	0	False	3:123452821	0	T	123452821	G	T	123452821	3	4	88	1	0	0	0	0	1	0	0	0	10123	1029	36	3	4822	3	MYLK	3	123452821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11840	123452821	74569609	4375	12087											
CCDC14	64770	broad.mit.edu	37	chr3	123665936	123665936	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcgaaaaagagacaaataTgtttgaatacattttagtag	8	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123665936T>C	ENST00000485727.1	-	4	5051	c.459A>G	c.(457-459)acA>acG	p.T153T	CCDC14_ENST00000433542.2_Silent_p.T312T|CCDC14_ENST00000488653.2_Silent_p.T353T|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Silent_p.T153T|CCDC14_ENST00000310351.4_Silent_p.T193T			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	353						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GAGACAAATATGTTTGAATAC	0.413													False	0	False	3:123665936	0	C	123665936	T	C	123665936	2	2	88	1	0	0	0	0	0	0	0	1	2793	1451	51	4		4	CCDC14	3	123665936	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	213115	123665936	74356494	4376	12088											
ROPN1	54763	broad.mit.edu	37	chr3	123699239	123699239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccactggatgaggtcctgCggctgcaccctaatggcggc	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123699239C>T	ENST00000479867.1	-	2	338	c.90G>A	c.(88-90)ccG>ccA	p.P30P	ROPN1_ENST00000484329.1_Silent_p.P30P|ROPN1_ENST00000405845.3_Silent_p.P30P|ROPN1_ENST00000184183.4_Silent_p.P30P|ROPN1_ENST00000459660.1_Silent_p.P30P|ROPN1_ENST00000495093.1_Silent_p.P30P			Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	30	RIIa.				signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		TGAGGTCCTGCGGCTGCACCC	0.592													False	0	False	3:123699239	0	T	123699239	C	T	123699239	2	4	88	1	0	0	0	0	0	0	0	1	13602	755	27	1		1	ROPN1	3	123699239	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33303	123699239	74323191	4377	12089											
KALRN	8997	broad.mit.edu	37	chr3	124053224	124053224	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaggcagtgcaccaggtgcTggacgtggtgcatgaggtgt	17	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124053224T>C	ENST00000360013.3	+	9	1650	c.1523T>C	c.(1522-1524)cTg>cCg	p.L508P	KALRN_ENST00000240874.3_Missense_Mutation_p.L508P|KALRN_ENST00000460856.1_Missense_Mutation_p.L508P	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	508					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACCAGGTGCTGGACGTGGTG	0.627													False	0	False	3:124053224	0	C	124053224	T	C	124053224	3	2	88	1	0	0	0	0	1	0	0	0	8025	1580	55	4	1557	4	KALRN	3	124053224	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	353985	124053224	73969206	4378	12090											
KALRN	8997	broad.mit.edu	37	chr3	124117671	124117671	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacgagcggaagatcaagCtggacatcttcctgcaactg	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124117671C>A	ENST00000360013.3	+	13	2420	c.2293C>A	c.(2293-2295)Ctg>Atg	p.L765M	KALRN_ENST00000240874.3_Missense_Mutation_p.L765M|KALRN_ENST00000460856.1_Missense_Mutation_p.L765M	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	765					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAAGATCAAGCTGGACATCTT	0.597													False	0	False	3:124117671	0	A	124117671	C	A	124117671	3	1	88	1	0	0	0	0	1	0	0	0	8025	796	28	3	2343	3	KALRN	3	124117671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64447	124117671	73904759	4379	12091											
KALRN	8997	broad.mit.edu	37	chr3	124149506	124149506	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtcccgattccctaggttCtgggatggatccgcaatgga	12	10	1	0	rs138919966	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124149506C>T	ENST00000360013.3	+	16	2834	c.2707C>T	c.(2707-2709)Ctg>Ttg	p.L903L	KALRN_ENST00000240874.3_Silent_p.L903L|KALRN_ENST00000460856.1_Silent_p.L903L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	903					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCCCTAGGTTCTGGGATGGAT	0.567													False	0	False	3:124149506	0	T	124149506	C	T	124149506	2	4	88	1	0	0	0	0	0	0	0	1	8025	912	32	2		2	KALRN	3	124149506	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31835	124149506	73872924	4380	12092											
KALRN	8997	broad.mit.edu	37	chr3	124211723	124211723	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccaaacagaggaacaataGtaagaggtaaccagcacctc	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124211723G>T	ENST00000360013.3	+	32	4947	c.4820G>T	c.(4819-4821)aGt>aTt	p.S1607I	KALRN_ENST00000240874.3_Missense_Mutation_p.S1607I|KALRN_ENST00000460856.1_Missense_Mutation_p.S1598I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1607					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGAACAATAGTAAGAGGTAA	0.507													False	0	False	3:124211723	0	T	124211723	G	T	124211723	3	4	88	1	0	0	0	0	1	0	0	0	8025	1029	36	3	4946	3	KALRN	3	124211723	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62217	124211723	73810707	4381	12093											
KALRN	8997	broad.mit.edu	37	chr3	124281736	124281736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctccaggacttcagtgCgggccacagcagtgagctga	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124281736C>T	ENST00000360013.3	+	34	5103	c.4976C>T	c.(4975-4977)gCg>gTg	p.A1659V	KALRN_ENST00000393496.1_Missense_Mutation_p.A32V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1659	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTTCAGTGCGGGCCACAGC	0.637													False	0	True	3:124281736	0	T	124281736	C	T	124281736	3	4	88	1	0	0	0	0	1	0	0	0	8025	768	27	1	5177	1	KALRN	3	124281736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70013	124281736	73740694	4382	12094											
KALRN	8997	broad.mit.edu	37	chr3	124380766	124380766	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaatctaggacgtctgcaGggctttgaggtgagtcttta	13	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124380766G>A	ENST00000291478.5	+	12	1405	c.1242G>A	c.(1240-1242)caG>caA	p.Q414Q	KALRN_ENST00000360013.3_Silent_p.Q2111Q|KALRN_ENST00000459915.1_Silent_p.Q203Q|KALRN_ENST00000428018.2_Silent_p.Q382Q|KALRN_ENST00000393496.1_Silent_p.Q452Q	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACGTCTGCAGGGCTTTGAGG	0.507													False	0	True	3:124380766	0	A	124380766	G	A	124380766	2	1	88	1	0	0	0	0	0	0	0	1	8025	991	35	2		2	KALRN	3	124380766	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99030	124380766	73641664	4383	12095											
KALRN	8997	broad.mit.edu	37	chr3	124413187	124413187	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atttgatcacagtggccccaGaattccttgtgcccttggtg	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124413187G>T	ENST00000291478.5	+	20	2486	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.E2472*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.E743*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGTGGCCCCAGAATTCCTTGT	0.458													False	0	False	3:124413187	0	T	124413187	G	T	124413187	4	4	88	1	0	0	0	0	0	1	0	0	8025	943	33	3	7780	3	KALRN	3	124413187	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32421	124413187	73609243	4384	12096											
KALRN	8997	broad.mit.edu	37	chr3	124413317	124413317	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaacatccttgacactgAtaacagctcagccacataca	5	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124413317A>C	ENST00000291478.5	+	20	2616	c.2453A>C	c.(2452-2454)gAt>gCt	p.D818A	KALRN_ENST00000360013.3_Missense_Mutation_p.D2515A|KALRN_ENST00000428018.2_Missense_Mutation_p.D786A	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTTGACACTGATAACAGCTCA	0.537													False	0	False	3:124413317	0	C	124413317	A	C	124413317	3	2	88	1	0	0	0	0	1	0	0	0	8025	333	12	4	7910	4	KALRN	3	124413317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	130	124413317	73609113	4385	12097											
UMPS	7372	broad.mit.edu	37	chr3	124454055	124454055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatctgttcaaccaatcaaaTtccaatgcttattagaagga	5	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124454055T>C	ENST00000232607.2	+	2	378	c.272T>C	c.(271-273)aTt>aCt	p.I91T	UMPS_ENST00000538242.1_Intron|UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000413078.2_Intron	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	91	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		ACCAATCAAATTCCAATGCTT	0.348													False	0	True	3:124454055	0	C	124454055	T	C	124454055	3	2	88	1	0	0	0	0	1	0	0	0	17065	1493	52	4	278	4	UMPS	3	124454055	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40738	124454055	73568375	4386	12098											
UMPS	7372	broad.mit.edu	37	chr3	124456949	124456949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtatctgcatgctgaagaCtcatgtagatattttgaatg	9	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124456949C>T	ENST00000232607.2	+	3	951	c.845C>T	c.(844-846)aCt>aTt	p.T282I	UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_Missense_Mutation_p.T104I|UMPS_ENST00000536109.1_Missense_Mutation_p.T190I|UMPS_ENST00000413078.2_Missense_Mutation_p.T104I	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	282	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		ATGCTGAAGACTCATGTAGAT	0.413													False	0	False	3:124456949	0	T	124456949	C	T	124456949	3	4	88	1	0	0	0	0	1	0	0	0	17065	565	20	2	855	2	UMPS	3	124456949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2894	124456949	73565481	4387	12099											
ITGB5	3693	broad.mit.edu	37	chr3	124527965	124527965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagagattaagatcctcaggCtgatcccagactgacaactc	8	11	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124527965C>A	ENST00000296181.4	-	9	1463	c.1167G>T	c.(1165-1167)caG>caT	p.Q389H		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	389					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GATCCTCAGGCTGATCCCAGA	0.483													False	0	False	3:124527965	0	A	124527965	C	A	124527965	3	1	88	1	0	0	0	0	1	0	0	0	7948	796	28	3	1260	3	ITGB5	3	124527965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71016	124527965	73494465	4388	12100											
ITGB5	3693	broad.mit.edu	37	chr3	124536539	124536539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctccaccgttgttccagGtatcagggctgtaaaattct	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124536539G>A	ENST00000296181.4	-	8	1353	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	353	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GTTGTTCCAGGTATCAGGGCT	0.383													False	0	False	3:124536539	0	A	124536539	G	A	124536539	3	1	88	1	0	0	0	0	1	0	0	0	7948	1261	44	2	1374	2	ITGB5	3	124536539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8574	124536539	73485891	4389	12101											
ITGB5	3693	broad.mit.edu	37	chr3	124578178	124578178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctgctgaggggcaggCtcctcaggacatggaagctg	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124578178C>A	ENST00000296181.4	-	3	568	c.272G>T	c.(271-273)aGc>aTc	p.S91I		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	91					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GAGGGGCAGGCTCCTCAGGAC	0.597													False	0	False	3:124578178	0	A	124578178	C	A	124578178	3	1	88	1	0	0	0	0	1	0	0	0	7948	797	28	3	2179	3	ITGB5	3	124578178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41639	124578178	73444252	4390	12102											
HEG1	57493	broad.mit.edu	37	chr3	124739746	124739746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttactctactgtttcttctcGattccactgcagagggtgaa	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124739746G>A	ENST00000311127.4	-	4	1209	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	381						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTTTCTTCTCGATTCCACTGC	0.473													False	0	False	3:124739746	0	A	124739746	G	A	124739746	3	1	88	1	0	0	0	0	1	0	0	0	7091	1059	37	1	3059	1	HEG1	3	124739746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161568	124739746	73282684	4391	12103											
HEG1	57493	broad.mit.edu	37	chr3	124746246	124746246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcttctgacagccccatcGccctctctgttcccatctcc	4	19	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124746246G>A	ENST00000311127.4	-	3	783	c.716C>T	c.(715-717)gCg>gTg	p.A239V		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	239						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CAGCCCCATCGCCCTCTCTGT	0.537													False	0	True	3:124746246	0	A	124746246	G	A	124746246	3	1	88	1	0	0	0	0	1	0	0	0	7091	1087	38	1	3489	1	HEG1	3	124746246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6500	124746246	73276184	4392	12104											
HEG1	57493	broad.mit.edu	37	chr3	124748188	124748188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaggttttctggagcatccGaagcagcatggctcttccca	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124748188G>A	ENST00000311127.4	-	2	528	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	154						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGGAGCATCCGAAGCAGCATG	0.483													False	0	False	3:124748188	0	A	124748188	G	A	124748188	3	1	88	1	0	0	0	0	1	0	0	0	7091	1059	37	1	3748	1	HEG1	3	124748188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1942	124748188	73274242	4393	12105											
OSBPL11	114885	broad.mit.edu	37	chr3	125266388	125266388	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccgagcatatgcacagGgtagagaaaatgtgtactct	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125266388G>T	ENST00000296220.5	-	10	1992	c.1703C>A	c.(1702-1704)cCc>cAc	p.P568H		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	568					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATATGCACAGGGTAGAGAAAA	0.418													False	0	True	3:125266388	0	T	125266388	G	T	125266388	3	4	88	1	0	0	0	0	1	0	0	0	11344	1232	43	3	556	3	OSBPL11	3	125266388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	518200	125266388	72756042	4394	12106											
OSBPL11	114885	broad.mit.edu	37	chr3	125286413	125286413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcgtctaattaagtctctTtgttgtccttcagcatgaga	7	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125286413T>C	ENST00000296220.5	-	6	982	c.693A>G	c.(691-693)caA>caG	p.Q231Q		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	231					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTAAGTCTCTTTGTTGTCCTT	0.388													False	0	True	3:125286413	0	C	125286413	T	C	125286413	2	2	88	1	0	0	0	0	0	0	0	1	11344	1838	64	4		4	OSBPL11	3	125286413	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20025	125286413	72736017	4395	12107											
SLC41A3	54946	broad.mit.edu	37	chr3	125725380	125725380	+	Missense_Mutation	SNP	G	G	T													ctgtacaccttcttggcacaGcagcagtgtggcccacggag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125725380G>T	ENST00000315891.6	-	12	1632	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A429D|SLC41A3_ENST00000383598.2_3'UTR	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	465						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TCTTGGCACAGCAGCAGTGTG	0.507													False	0	True	3:125725380	0	T	125725380	G	T	125725380	3	4	88	1	0	0	0	0	1	0	0	0	14711	971	34	3	133	3	SLC41A3	3	125725380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	438967	125725380	72297050	4396	12108	166	2									
SLC41A3	54946	broad.mit.edu	37	chr3	125725383	125725383	+	Missense_Mutation	SNP	G	G	T													tacaccttcttggcacagcaGcagtgtggcccacggagctt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125725383G>T	ENST00000315891.6	-	12	1629	c.1391C>A	c.(1390-1392)gCt>gAt	p.A464D	SLC41A3_ENST00000360370.4_3'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A428D|SLC41A3_ENST00000383598.2_3'UTR	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	464						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TGGCACAGCAGCAGTGTGGCC	0.507													False	0	True	3:125725383	0	T	125725383	G	T	125725383	3	4	88	1	0	0	0	0	1	0	0	0	14711	971	34	3	136	3	SLC41A3	3	125725383	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3	125725383	72297047	4397	12109	166	2									
SLC41A3	54946	broad.mit.edu	37	chr3	125735601	125735601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaccatggccaggatgattGggaaccagccaaacttcagg	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125735601G>T	ENST00000383598.2	-	6	1070	c.785C>A	c.(784-786)cCa>cAa	p.P262Q	SLC41A3_ENST00000315891.6_Missense_Mutation_p.P288Q|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P288Q|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P252Q|SLC41A3_ENST00000508835.1_Missense_Mutation_p.P171Q	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	288						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CAGGATGATTGGGAACCAGCC	0.607													False	0	True	3:125735601	0	T	125735601	G	T	125735601	3	4	88	1	0	0	0	0	1	0	0	0	14711	1348	47	3	782	3	SLC41A3	3	125735601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10218	125735601	72286829	4398	12110											
ALDH1L1	10840	broad.mit.edu	37	chr3	125824589	125824589	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctagatctttgccaaatccaGactgtttgaatcctccgaag	7	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125824589G>T	ENST00000393434.2	-	22	2982	c.2633C>A	c.(2632-2634)tCt>tAt	p.S878Y	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S878Y|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S888Y|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S777Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	878	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCCAAATCCAGACTGTTTGAA	0.493													False	0	False	3:125824589	0	T	125824589	G	T	125824589	3	4	88	1	0	0	0	0	1	0	0	0	494	942	33	3	83	3	ALDH1L1	3	125824589	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88988	125824589	72197841	4399	12111											
ALDH1L1	10840	broad.mit.edu	37	chr3	125833403	125833403	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaggcccggccctcaccatCtgcacagccttgttgaggtc	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125833403C>A	ENST00000393434.2	-	18	2428	c.2079G>T	c.(2077-2079)caG>caT	p.Q693H	ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q592H|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q703H|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q693H	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	693	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCTCACCATCTGCACAGCCT	0.597													False	0	False	3:125833403	0	A	125833403	C	A	125833403	3	1	88	1	0	0	0	0	1	0	0	0	494	912	32	3	653	3	ALDH1L1	3	125833403	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8814	125833403	72189027	4400	12112											
ALDH1L1	10840	broad.mit.edu	37	chr3	125854451	125854451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaaggcatccttggctgCggccactgccttgtcgacgt	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125854451C>T	ENST00000393434.2	-	12	1748	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A467T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A366T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A477T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A467T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	467	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTTGGCTGCGGCCACTGCC	0.602													False	0	False	3:125854451	0	T	125854451	C	T	125854451	3	4	88	1	0	0	0	0	1	0	0	0	494	768	27	1	1357	1	ALDH1L1	3	125854451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21048	125854451	72167979	4401	12113											
ALDH1L1	10840	broad.mit.edu	37	chr3	125872144	125872144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagccgggtggtcagggaCaaatcagggtcagtgttcct	14	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125872144C>T	ENST00000455064.2	-	6	899	c.476G>A	c.(475-477)tGt>tAt	p.C159Y	ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000393434.2_Intron|ALDH1L1_ENST00000413612.1_Intron|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000273450.3_Intron|ALDH1L1_ENST00000472186.1_Intron			O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	0	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGGTCAGGGACAAATCAGGGT	0.572													False	0	True	3:125872144	0	T	125872144	C	T	125872144	3	4	88	1	0	0	0	0	1	0	0	0	494	493	17	2		2	ALDH1L1	3	125872144	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17693	125872144	72150286	4402	12114											
ALDH1L1	10840	broad.mit.edu	37	chr3	125873462	125873462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggatccagttgtgaatggCctctgccggctggtcccagt	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125873462C>T	ENST00000393434.2	-	6	1004	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	ALDH1L1_ENST00000393431.2_Missense_Mutation_p.A219T|ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000452905.2_Splice_Site_p.A118T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A229T|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.A44T|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A219T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	219					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTGTGAATGGCCTCTGCCGGC	0.617													False	0	False	3:125873462	0	T	125873462	C	T	125873462	3	4	88	1	0	0	0	0	1	0	0	0	494	739	26	2	2125	2	ALDH1L1	3	125873462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1318	125873462	72148968	4403	12115											
KLF15	28999	broad.mit.edu	37	chr3	126062615	126062615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccgcgggaagcggtgCaccttgatgtgcttggagag	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126062615C>T	ENST00000296233.3	-	3	1436	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	402						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GGAAGCGGTGCACCTTGATGT	0.657													False	0	False	3:126062615	0	T	126062615	C	T	126062615	2	4	88	1	0	0	0	0	0	0	0	1	8393	697	25	2		2	KLF15	3	126062615	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	189153	126062615	71959815	4404	12116											
CCDC37	348807	broad.mit.edu	37	chr3	126138556	126138556	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatacaagctgtcgcccaagGagtggcttgaagaacaggaa	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126138556G>T	ENST00000393425.1	+	9	910	c.811G>T	c.(811-813)Gag>Tag	p.E271*	CCDC37_ENST00000505024.1_Nonsense_Mutation_p.E271*|CCDC37_ENST00000352312.1_Nonsense_Mutation_p.E270*			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	270										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GTCGCCCAAGGAGTGGCTTGA	0.493													False	0	False	3:126138556	0	T	126138556	G	T	126138556	4	4	88	1	0	0	0	0	0	1	0	0	2830	1175	41	3	838	3	CCDC37	3	126138556	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75941	126138556	71883874	4405	12117											
CCDC37	348807	broad.mit.edu	37	chr3	126138953	126138953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctttctccagagggtcaGggtacaaagaagccctggag	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126138953G>T	ENST00000393425.1	+	11	1065	c.966G>T	c.(964-966)caG>caT	p.Q322H	CCDC37_ENST00000505024.1_Missense_Mutation_p.Q322H|CCDC37_ENST00000352312.1_Missense_Mutation_p.Q321H			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	321										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CAGAGGGTCAGGGTACAAAGA	0.642													False	0	True	3:126138953	0	T	126138953	G	T	126138953	3	4	88	1	0	0	0	0	1	0	0	0	2830	991	35	3	1001	3	CCDC37	3	126138953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	397	126138953	71883477	4406	12118											
CCDC37	348807	broad.mit.edu	37	chr3	126154401	126154401	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtcatttcttgccacccaGacttcgagaagagaagctcc	8	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126154401G>T	ENST00000393425.1	+	16	1730		c.e16-1		CCDC37_ENST00000505024.1_Splice_Site|CCDC37_ENST00000506204.1_Splice_Site|CCDC37_ENST00000352312.1_Splice_Site			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37											NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TTGCCACCCAGACTTCGAGAA	0.572													False	0	False	3:126154401	0	T	126154401	G	T	126154401	5	4	88	1	0	0	0	0	0	0	1	0	2830	956	33	3	1686	3	CCDC37	3	126154401	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15448	126154401	71868029	4407	12119											
ZXDC	79364	broad.mit.edu	37	chr3	126185060	126185060	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgcttggaggtgaagagtCtgttgcaggtagaaactggg	17	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126185060C>T	ENST00000389709.3	-	5	1432	c.1379G>A	c.(1378-1380)aGa>aAa	p.R460K	ZXDC_ENST00000336332.5_Missense_Mutation_p.R460K	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	460					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGTGAAGAGTCTGTTGCAGGT	0.577													False	0	False	3:126185060	0	T	126185060	C	T	126185060	3	4	88	1	0	0	0	0	1	0	0	0	18334	913	32	2	1227	2	ZXDC	3	126185060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30659	126185060	71837370	4408	12120											
UROC1	131669	broad.mit.edu	37	chr3	126208217	126208217	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggctcaggaccaccggcGcctgtgcatggaaggacaga	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126208217G>A	ENST00000290868.2	-	17	1663	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	UROC1_ENST00000383579.3_Splice_Site_p.A597V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	537					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GACCACCGGCGCCTGTGCATG	0.592													False	0	False	3:126208217	0	A	126208217	G	A	126208217	5	1	88	1	0	0	0	0	0	0	1	0	17112	1101	38	1	436	1	UROC1	3	126208217	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23157	126208217	71814213	4409	12121											
UROC1	131669	broad.mit.edu	37	chr3	126211352	126211352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggatccttgcctgggagCccaccacctgaggagagaag	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126211352C>T	ENST00000290868.2	-	16	1570	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D	UROC1_ENST00000383579.3_Missense_Mutation_p.G566D	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	506					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGCCTGGGAGCCCACCACCTG	0.602													False	0	True	3:126211352	0	T	126211352	C	T	126211352	3	4	88	1	0	0	0	0	1	0	0	0	17112	739	26	2	533	2	UROC1	3	126211352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3135	126211352	71811078	4410	12122											
PLXNA1	5361	broad.mit.edu	37	chr3	126710388	126710388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtggtattcgccggcacGcgaagtggccgcatccgcaa	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126710388G>A	ENST00000393409.2	+	2	1356	c.1356G>A	c.(1354-1356)acG>acA	p.T452T	PLXNA1_ENST00000251772.4_Silent_p.T429T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	452	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCGCCGGCACGCGAAGTGGCC	0.672													False	0	False	3:126710388	0	A	126710388	G	A	126710388	2	1	88	1	0	0	0	0	0	0	0	1	12188	1074	38	1		1	PLXNA1	3	126710388	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	499036	126710388	71312042	4411	12123											
PLXNA1	5361	broad.mit.edu	37	chr3	126733350	126733350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacgggcccgaggcagggCggcacgcggctcactatcac	16	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126733350C>T	ENST00000393409.2	+	12	2634	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	PLXNA1_ENST00000251772.4_Silent_p.G855G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	878	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGAGGCAGGGCGGCACGCGGC	0.697													False	0	True	3:126733350	0	T	126733350	C	T	126733350	2	4	88	1	0	0	0	0	0	0	0	1	12188	755	27	1		1	PLXNA1	3	126733350	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22962	126733350	71289080	4412	12124											
PLXNA1	5361	broad.mit.edu	37	chr3	126735415	126735415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcagagccctggcagcGctcccatcatcatcaacatc	9	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126735415G>A	ENST00000393409.2	+	15	3070	c.3070G>A	c.(3070-3072)Gct>Act	p.A1024T	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A1001T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1024	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCCTGGCAGCGCTCCCATCAT	0.637													False	0	False	3:126735415	0	A	126735415	G	A	126735415	3	1	88	1	0	0	0	0	1	0	0	0	12188	1087	38	1	3128	1	PLXNA1	3	126735415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2065	126735415	71287015	4413	12125											
PLXNA1	5361	broad.mit.edu	37	chr3	126735821	126735821	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacggtcacaggcaccaacCtggccactgtccgtgaaccc	10	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126735821C>A	ENST00000393409.2	+	16	3217	c.3217C>A	c.(3217-3219)Ctg>Atg	p.L1073M	PLXNA1_ENST00000251772.4_Missense_Mutation_p.L1050M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1073	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGCACCAACCTGGCCACTGT	0.642													False	0	False	3:126735821	0	A	126735821	C	A	126735821	3	1	88	1	0	0	0	0	1	0	0	0	12188	680	24	3	3279	3	PLXNA1	3	126735821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	406	126735821	71286609	4414	12126											
PLXNA1	5361	broad.mit.edu	37	chr3	126736699	126736699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggagacgcaactgctgtgCgaggcgcccaacctcactgg	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126736699C>T	ENST00000393409.2	+	18	3624	c.3624C>T	c.(3622-3624)tgC>tgT	p.C1208C	PLXNA1_ENST00000251772.4_Silent_p.C1185C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1208	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AACTGCTGTGCGAGGCGCCCA	0.657													False	0	False	3:126736699	0	T	126736699	C	T	126736699	2	4	88	1	0	0	0	0	0	0	0	1	12188	776	27	1		1	PLXNA1	3	126736699	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	878	126736699	71285731	4415	12127											
PLXNA1	5361	broad.mit.edu	37	chr3	126741028	126741028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgctggaggcacagcgcaGcttctccatgcgcgaccgcg	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126741028G>A	ENST00000393409.2	+	21	4139	c.4139G>A	c.(4138-4140)aGc>aAc	p.S1380N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S1357N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1380					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCACAGCGCAGCTTCTCCATG	0.617													False	0	False	3:126741028	0	A	126741028	G	A	126741028	3	1	88	1	0	0	0	0	1	0	0	0	12188	971	34	2	4221	2	PLXNA1	3	126741028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4329	126741028	71281402	4416	12128											
PLXNA1	5361	broad.mit.edu	37	chr3	126741119	126741119	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccacaggcgtgctcaagcaGctgctttccgacctcatcga	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126741119G>T	ENST00000393409.2	+	21	4230	c.4230G>T	c.(4228-4230)caG>caT	p.Q1410H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.Q1387H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1410					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCTCAAGCAGCTGCTTTCCG	0.642													False	0	False	3:126741119	0	T	126741119	G	T	126741119	3	4	88	1	0	0	0	0	1	0	0	0	12188	962	34	3	4312	3	PLXNA1	3	126741119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	126741119	71281311	4417	12129											
TPRA1	131601	broad.mit.edu	37	chr3	127295733	127295733	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgggtgatctcccacaGgatctgcacgcagagtgggc	15	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127295733G>T	ENST00000355552.3	-	5	725	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	TPRA1_ENST00000450633.2_Missense_Mutation_p.L117M|TPRA1_ENST00000489960.1_Missense_Mutation_p.L117M|TPRA1_ENST00000296210.7_Missense_Mutation_p.L117M	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	117					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						ATCTCCCACAGGATCTGCACG	0.672													False	0	False	3:127295733	0	T	127295733	G	T	127295733	3	4	88	1	0	0	0	0	1	0	0	0	16500	991	35	3	800	3	TPRA1	3	127295733	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	554614	127295733	70726697	4418	12130											
MCM2	4171	broad.mit.edu	37	chr3	127318161	127318161	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccgcaccttctcttgcagGaatcatcggaatccttcacc	6	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127318161G>A	ENST00000265056.7	+	2	251	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	3	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TCTCTTGCAGGAATCATCGGA	0.572													False	0	False	3:127318161	0	A	127318161	G	A	127318161	5	1	88	1	0	0	0	0	0	0	1	0	9453	1188	41	2	13	2	MCM2	3	127318161	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22428	127318161	70704269	4419	12131											
MCM2	4171	broad.mit.edu	37	chr3	127339940	127339940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccgctacctttcattcCggcgtgacaacaatgagctg	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127339940C>T	ENST00000265056.7	+	15	2717	c.2473C>T	c.(2473-2475)Cgg>Tgg	p.R825W	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	825					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	p.R825W(1)		ovary(3)|skin(2)|stomach(1)	6						CCTTTCATTCCGGCGTGACAA	0.542													False	0	False	3:127339940	0	T	127339940	C	T	127339940	3	4	88	1	0	0	0	0	1	0	0	0	9453	643	23	1	2531	1	MCM2	3	127339940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21779	127339940	70682490	4420	12132											
ABTB1	80325	broad.mit.edu	37	chr3	127394818	127394818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcctcccccaggagccCgctgcgaggccaacaccttc	9	21	0	0	rs147002334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127394818C>T	ENST00000232744.8	+	4	267	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000453791.2_5'UTR			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	61						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CCCAGGAGCCCGCTGCGAGGC	0.637													False	0	True	3:127394818	0	T	127394818	C	T	127394818	3	4	88	1	0	0	0	0	1	0	0	0	102	652	23	1	195	1	ABTB1	3	127394818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54878	127394818	70627612	4421	12133											
MGLL	11343	broad.mit.edu	37	chr3	127454569	127454569	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcaaaaggtgggtttccaGcacgtgctcgctccccgcct	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127454569G>T	ENST00000398101.3	-	1	631	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	MGLL_ENST00000453507.2_Intron|MGLL_ENST00000265052.5_Intron|MGLL_ENST00000398104.1_Intron|MGLL_ENST00000434178.2_Intron			Q99685	MGLL_HUMAN	monoglyceride lipase	0					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TGGGTTTCCAGCACGTGCTCG	0.478													False	0	False	3:127454569	0	T	127454569	G	T	127454569	3	4	88	1	0	0	0	0	1	0	0	0	9623	986	34	3		3	MGLL	3	127454569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59751	127454569	70567861	4422	12134											
MGLL	11343	broad.mit.edu	37	chr3	127500698	127500698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagctcttcatagcggcCactgtgctctccggctccat	9	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127500698C>T	ENST00000434178.2	-	3	1062	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	MGLL_ENST00000453507.2_Missense_Mutation_p.G66S|MGLL_ENST00000265052.5_Missense_Mutation_p.G66S|MGLL_ENST00000398104.1_Missense_Mutation_p.G56S			Q99685	MGLL_HUMAN	monoglyceride lipase	56					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TCATAGCGGCCACTGTGCTCT	0.642													False	0	False	3:127500698	0	T	127500698	C	T	127500698	3	4	88	1	0	0	0	0	1	0	0	0	9623	594	21	2	769	2	MGLL	3	127500698	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46129	127500698	70521732	4423	12135											
KBTBD12	166348	broad.mit.edu	37	chr3	127646814	127646814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccccttccactgcaattGgcatgtcatgctgtagtgac	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127646814G>A	ENST00000405109.1	+	3	1745	c.1278G>A	c.(1276-1278)ttG>ttA	p.L426L	KBTBD12_ENST00000407609.3_Silent_p.L33L|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000405256.1_Silent_p.L426L			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	426										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CACTGCAATTGGCATGTCATG	0.383													False	0	False	3:127646814	0	A	127646814	G	A	127646814	2	1	88	1	0	0	0	0	0	0	0	1	8041	1339	47	2		2	KBTBD12	3	127646814	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146116	127646814	70375616	4424	12136											
SEC61A1	29927	broad.mit.edu	37	chr3	127775659	127775659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacaccccaaaagaccgaGctctcttcaacggagcccaa	8	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127775659G>A	ENST00000243253.3	+	5	512	c.328G>A	c.(328-330)Gct>Act	p.A110T	SEC61A1_ENST00000464451.1_Missense_Mutation_p.A116T|SEC61A1_ENST00000424880.2_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	110					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						AAAAGACCGAGCTCTCTTCAA	0.408													False	0	True	3:127775659	0	A	127775659	G	A	127775659	3	1	88	1	0	0	0	0	1	0	0	0	14081	971	34	2	346	2	SEC61A1	3	127775659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128845	127775659	70246771	4425	12137											
EEFSEC	60678	broad.mit.edu	37	chr3	127965783	127965783	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagattgcctgccagaagCtggtcgtggtgctgaacaaa	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127965783C>A	ENST00000254730.6	+	2	475	c.421C>A	c.(421-423)Ctg>Atg	p.L141M	EEFSEC_ENST00000483457.1_Missense_Mutation_p.L141M	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	141						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CTGCCAGAAGCTGGTCGTGGT	0.488													False	0	False	3:127965783	0	A	127965783	C	A	127965783	3	1	88	1	0	0	0	0	1	0	0	0	4961	796	28	3	427	3	EEFSEC	3	127965783	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190124	127965783	70056647	4426	12138											
EEFSEC	60678	broad.mit.edu	37	chr3	128126977	128126977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcgggcccgggctggcCgtggggaggccaccaggcag	20	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128126977C>T	ENST00000254730.6	+	7	1720	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	EEFSEC_ENST00000483457.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	556						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCGGGCTGGCCGTGGGGAGGC	0.647													False	0	False	3:128126977	0	T	128126977	C	T	128126977	3	4	88	1	0	0	0	0	1	0	0	0	4961	652	23	1	1692	1	EEFSEC	3	128126977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161194	128126977	69895453	4427	12139											
DNAJB8	165721	broad.mit.edu	37	chr3	128181722	128181722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatggccccggccaccacGgtcactattgaatgggctgt	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128181722G>A	ENST00000469083.1	-	2	2924	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	DNAJB8_ENST00000319153.3_Missense_Mutation_p.R123C			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	123					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CGGCCACCACGGTCACTATTG	0.582													False	0	False	3:128181722	0	A	128181722	G	A	128181722	3	1	88	1	0	0	0	0	1	0	0	0	4656	1116	39	1	335	1	DNAJB8	3	128181722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54745	128181722	69840708	4428	12140											
GATA2	2624	broad.mit.edu	37	chr3	128204709	128204709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggtaggtggggatgggGtggtgtgtagcaggctgggt	25	2	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128204709G>A	ENST00000341105.2	-	3	1063	c.732C>T	c.(730-732)caC>caT	p.H244H	GATA2_ENST00000430265.2_Silent_p.H244H|GATA2_ENST00000487848.1_Silent_p.H244H	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	244					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TGGGGATGGGGTGGTGTGTAG	0.642			Mis		AML(CML blast transformation)								False	0	True	3:128204709	0	A	128204709	G	A	128204709	2	1	88	1	0	0	0	0	0	0	0	1	6297	1252	44	2		2	GATA2	3	128204709	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22987	128204709	69817721	4429	12141											
RAB7A	7879	broad.mit.edu	37	chr3	128514202	128514202	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctccttttccccctttaGtttgaaggatgacctctagg	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128514202G>A	ENST00000265062.3	+	2	238		c.e2-1		RAB7A_ENST00000482525.1_Splice_Site|RAB7A_ENST00000485280.1_5'UTR	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family						endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		TCCCCCTTTAGTTTGAAGGAT	0.453											OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	3:128514202	0	A	128514202	G	A	128514202	5	1	88	1	0	0	0	0	0	0	1	0	13033	1043	36	2		2	RAB7A	3	128514202	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	309493	128514202	69508228	4430	12142											
ACAD9	28976	broad.mit.edu	37	chr3	128621399	128621399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgttctccctgcaggtgGccatgaacatcctcaacagc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128621399G>A	ENST00000308982.7	+	9	967	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	296						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTGCAGGTGGCCATGAACAT	0.607													False	0	False	3:128621399	0	A	128621399	G	A	128621399	3	1	88	1	0	0	0	0	1	0	0	0	111	1203	42	2	920	2	ACAD9	3	128621399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107197	128621399	69401031	4431	12143											
KIAA1257	57501	broad.mit.edu	37	chr3	128706495	128706495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccacgtcgtctgtgaagcCggcagtctttaatcggtaat	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128706495C>T	ENST00000265068.5	-	4	798	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	KIAA1257_ENST00000511438.1_Missense_Mutation_p.G211S|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.G99S	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	211								p.G211C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TCTGTGAAGCCGGCAGTCTTT	0.393													False	0	False	3:128706495	0	T	128706495	C	T	128706495	3	4	88	1	0	0	0	0	1	0	0	0	8268	652	23	1	618	1	KIAA1257	3	128706495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85096	128706495	69315935	4432	12144											
KIAA1257	57501	broad.mit.edu	37	chr3	128711980	128711980	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaggctcagatgaggaCtcgatgctgctgcacgggcg	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128711980C>A	ENST00000265068.5	-	2	335	c.168G>T	c.(166-168)gaG>gaT	p.E56D	KIAA1257_ENST00000511438.1_Missense_Mutation_p.E56D|KIAA1257_ENST00000510149.1_Intron	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	56										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAGATGAGGACTCGATGCTGC	0.597													False	0	False	3:128711980	0	A	128711980	C	A	128711980	3	1	88	1	0	0	0	0	1	0	0	0	8268	564	20	3	1089	3	KIAA1257	3	128711980	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5485	128711980	69310450	4433	12145											
GP9	2815	broad.mit.edu	37	chr3	128780850	128780850	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcagaacccctggcactgtGactgcagcctcacctatctg	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128780850G>A	ENST00000307395.4	+	3	490	c.268G>A	c.(268-270)Gac>Aac	p.D90N		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	90	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CTGGCACTGTGACTGCAGCCT	0.682													False	0	False	3:128780850	0	A	128780850	G	A	128780850	3	1	88	1	0	0	0	0	1	0	0	0	6631	1290	45	2	270	2	GP9	3	128780850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68870	128780850	69241580	4434	12146											
GP9	2815	broad.mit.edu	37	chr3	128780912	128780912	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcccgaggccctgctgcaGgtccgctgtgccagccccag	13	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128780912G>T	ENST00000307395.4	+	3	552	c.330G>T	c.(328-330)caG>caT	p.Q110H		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	110	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CCCTGCTGCAGGTCCGCTGTG	0.701													False	0	False	3:128780912	0	T	128780912	G	T	128780912	3	4	88	1	0	0	0	0	1	0	0	0	6631	991	35	3	332	3	GP9	3	128780912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	128780912	69241518	4435	12147											
CNBP	7555	broad.mit.edu	37	chr3	128889940	128889940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctatagcacttcactttgGtgcagtctttttgaatgtgt	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128889940G>A	ENST00000422453.2	-	4	558	c.398C>T	c.(397-399)aCc>aTc	p.T133I	CNBP_ENST00000446936.2_Missense_Mutation_p.T128I|CNBP_ENST00000504813.1_Missense_Mutation_p.T123I|CNBP_ENST00000502976.1_Missense_Mutation_p.T126I|CNBP_ENST00000500450.2_Missense_Mutation_p.T116I|CNBP_ENST00000441626.2_Missense_Mutation_p.T135I|CNBP_ENST00000451728.2_Missense_Mutation_p.T134I	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	133					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CTTCACTTTGGTGCAGTCTTT	0.433													False	0	False	3:128889940	0	A	128889940	G	A	128889940	3	1	88	1	0	0	0	0	1	0	0	0	3615	1261	44	2	143	2	CNBP	3	128889940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109028	128889940	69132490	4436	12148											
CNBP	7555	broad.mit.edu	37	chr3	128890570	128890570	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcccagtggccagatcGtccacacttgaagcactcat	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128890570G>A	ENST00000422453.2	-	2	191	c.31C>T	c.(31-33)Cga>Tga	p.R11*	CNBP_ENST00000446936.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000504813.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000502976.1_Nonsense_Mutation_p.R11*|CNBP_ENST00000500450.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000441626.2_Nonsense_Mutation_p.R11*|CNBP_ENST00000451728.2_Nonsense_Mutation_p.R11*	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	11					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						TGGCCAGATCGTCCACACTTG	0.463													False	0	False	3:128890570	0	A	128890570	G	A	128890570	4	1	88	1	0	0	0	0	0	1	0	0	3615	1153	40	1	524	1	CNBP	3	128890570	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	630	128890570	69131860	4437	12149											
CNBP	7555	broad.mit.edu	37	chr3	128890615	128890615	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctcatggctgcagtcagatCtttgaaatattaaaagtaac	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128890615C>A	ENST00000422453.2	-	2	147		c.e2-1		CNBP_ENST00000446936.2_Splice_Site|CNBP_ENST00000504813.1_Splice_Site|CNBP_ENST00000502976.1_Splice_Site|CNBP_ENST00000500450.2_Splice_Site|CNBP_ENST00000441626.2_Splice_Site|CNBP_ENST00000451728.2_Splice_Site	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein						cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GCAGTCAGATCTTTGAAATAT	0.413													False	0	True	3:128890615	0	A	128890615	C	A	128890615	5	1	88	1	0	0	0	0	0	0	1	0	3615	927	32	3		3	CNBP	3	128890615	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	128890615	69131815	4438	12150											
IFT122	55764	broad.mit.edu	37	chr3	129238491	129238491	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccgggatgtcctcatcaaGcgatggcccccacccctgag	11	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129238491G>T	ENST00000296266.3	+	30	3897	c.3705G>T	c.(3703-3705)aaG>aaT	p.K1235N	IFT122_ENST00000349441.2_Missense_Mutation_p.K1074N|IFT122_ENST00000507564.1_Missense_Mutation_p.K1177N|IFT122_ENST00000440957.2_Missense_Mutation_p.K975N|IFT122_ENST00000504021.1_Missense_Mutation_p.K1061N|IFT122_ENST00000348417.2_Missense_Mutation_p.K1184N|IFT122_ENST00000347300.2_Missense_Mutation_p.K1125N|IFT122_ENST00000431818.2_Missense_Mutation_p.K1034N	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1184					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TCCTCATCAAGCGATGGCCCC	0.652													False	0	False	3:129238491	0	T	129238491	G	T	129238491	3	4	88	1	0	0	0	0	1	0	0	0	7605	962	34	3	3826	3	IFT122	3	129238491	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	347876	129238491	68783939	4439	12151											
IFT122	55764	broad.mit.edu	37	chr3	129238526	129238526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaggtggcaatacttccGctcactgctgcctgacgcct	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129238526G>A	ENST00000296266.3	+	30	3932	c.3740G>A	c.(3739-3741)cGc>cAc	p.R1247H	IFT122_ENST00000349441.2_Missense_Mutation_p.R1086H|IFT122_ENST00000507564.1_Missense_Mutation_p.R1189H|IFT122_ENST00000440957.2_Missense_Mutation_p.R987H|IFT122_ENST00000504021.1_Missense_Mutation_p.R1073H|IFT122_ENST00000348417.2_Missense_Mutation_p.R1196H|IFT122_ENST00000347300.2_Missense_Mutation_p.R1137H|IFT122_ENST00000431818.2_Missense_Mutation_p.R1046H	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1196					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CAATACTTCCGCTCACTGCTG	0.622													False	0	False	3:129238526	0	A	129238526	G	A	129238526	3	1	88	1	0	0	0	0	1	0	0	0	7605	1087	38	1	3861	1	IFT122	3	129238526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35	129238526	68783904	4440	12152											
PLXND1	23129	broad.mit.edu	37	chr3	129281956	129281956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccggggcttggcctcgatgTtctcccgcagcagccactcc	11	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129281956T>C	ENST00000393239.1	-	26	4827	c.4649A>G	c.(4648-4650)aAc>aGc	p.N1550S	PLXND1_ENST00000324093.4_Missense_Mutation_p.N1550S			Q9Y4D7	PLXD1_HUMAN	plexin D1	1550					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGCCTCGATGTTCTCCCGCAG	0.642													False	0	False	3:129281956	0	C	129281956	T	C	129281956	3	2	88	1	0	0	0	0	1	0	0	0	12196	1725	60	4	1172	4	PLXND1	3	129281956	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43430	129281956	68740474	4441	12153											
PLXND1	23129	broad.mit.edu	37	chr3	129284287	129284287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggttcttggcggccgaggCgtcaatgaggtccaccagca	16	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129284287C>T	ENST00000393239.1	-	25	4595	c.4417G>A	c.(4417-4419)Gcc>Acc	p.A1473T	PLXND1_ENST00000324093.4_Missense_Mutation_p.A1473T			Q9Y4D7	PLXD1_HUMAN	plexin D1	1473					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCGGCCGAGGCGTCAATGAGG	0.592													False	0	False	3:129284287	0	T	129284287	C	T	129284287	3	4	88	1	0	0	0	0	1	0	0	0	12196	768	27	1	1408	1	PLXND1	3	129284287	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2331	129284287	68738143	4442	12154											
PLXND1	23129	broad.mit.edu	37	chr3	129305525	129305525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataggccacagtcaccaccCgcctgctcaccacctgcatg	7	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129305525C>T	ENST00000393239.1	-	3	1704	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q	PLXND1_ENST00000324093.4_Missense_Mutation_p.R509Q			Q9Y4D7	PLXD1_HUMAN	plexin D1	509	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGTCACCACCCGCCTGCTCAC	0.612													False	0	True	3:129305525	0	T	129305525	C	T	129305525	3	4	88	1	0	0	0	0	1	0	0	0	12196	652	23	1	4387	1	PLXND1	3	129305525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21238	129305525	68716905	4443	12155											
TMCC1	23023	broad.mit.edu	37	chr3	129370342	129370342	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catcatctaggggatgaaaaGaaccgttccacatagctgaa	9	9	2	3	rs114782689	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129370342G>T	ENST00000393238.3	-	6	2284	c.1944C>A	c.(1942-1944)ttC>ttA	p.F648L	TMCC1_ENST00000426664.2_Missense_Mutation_p.F534L|TMCC1_ENST00000329333.5_Missense_Mutation_p.F469L|TMCC1_ENST00000432054.2_Missense_Mutation_p.F324L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	648						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGGATGAAAAGAACCGTTCCA	0.493													False	0	True	3:129370342	0	T	129370342	G	T	129370342	3	4	88	1	0	0	0	0	1	0	0	0	16074	933	33	3	21	3	TMCC1	3	129370342	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64817	129370342	68652088	4444	12156											
TMCC1	23023	broad.mit.edu	37	chr3	129373835	129373835	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcccgggcccgttcataGgactgatacgcgattttttc	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129373835G>A	ENST00000393238.3	-	5	1963	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	TMCC1_ENST00000426664.2_Silent_p.S427S|TMCC1_ENST00000329333.5_Silent_p.S362S|TMCC1_ENST00000432054.2_Silent_p.S217S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	541						integral to membrane		p.S541S(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCCGTTCATAGGACTGATACG	0.423													False	0	False	3:129373835	0	A	129373835	G	A	129373835	2	1	88	1	0	0	0	0	0	0	0	1	16074	987	35	2		2	TMCC1	3	129373835	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3493	129373835	68648595	4445	12157											
TMCC1	23023	broad.mit.edu	37	chr3	129373889	129373889	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agttcctgcttcaagttcaaGatttcattctggtggagctc	9	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129373889G>A	ENST00000393238.3	-	5	1909	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	TMCC1_ENST00000426664.2_Silent_p.I409I|TMCC1_ENST00000329333.5_Silent_p.I344I|TMCC1_ENST00000432054.2_Silent_p.I199I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	523						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TCAAGTTCAAGATTTCATTCT	0.403													False	0	False	3:129373889	0	A	129373889	G	A	129373889	2	1	88	1	0	0	0	0	0	0	0	1	16074	932	33	2		2	TMCC1	3	129373889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	129373889	68648541	4446	12158											
TMCC1	23023	broad.mit.edu	37	chr3	129389812	129389812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttgcagctggaggataGtttgggcagatttctggttc	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129389812G>A	ENST00000393238.3	-	4	1212	c.872C>T	c.(871-873)aCt>aTt	p.T291I	TMCC1_ENST00000426664.2_Missense_Mutation_p.T177I|TMCC1_ENST00000329333.5_Missense_Mutation_p.T112I|TMCC1_ENST00000432054.2_5'UTR	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	291						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGGAGGATAGTTTGGGCAGA	0.502													False	0	True	3:129389812	0	A	129389812	G	A	129389812	3	1	88	1	0	0	0	0	1	0	0	0	16074	1029	36	2	1101	2	TMCC1	3	129389812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15923	129389812	68632618	4447	12159											
TRH	7200	broad.mit.edu	37	chr3	129695746	129695746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcggcagcatcctggccGgcgctccccctggcttgcat	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129695746G>A	ENST00000302649.3	+	3	943	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	TRH_ENST00000507066.1_Missense_Mutation_p.R135Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	139					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CATCCTGGCCGGCGCTCCCCC	0.632													False	0	False	3:129695746	0	A	129695746	G	A	129695746	3	1	88	1	0	0	0	0	1	0	0	0	16561	1116	39	1	422	1	TRH	3	129695746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	305934	129695746	68326684	4448	12160											
COL6A5	256076	broad.mit.edu	37	chr3	130095372	130095372	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggaggctcataggacCtacttctctgcacccataaa	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130095372C>A	ENST00000265379.6	+	3	854	c.360C>A	c.(358-360)acC>acA	p.T120T	COL6A5_ENST00000432398.2_Silent_p.T120T			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	120	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTCATAGGACCTACTTCTCTG	0.512													False	0	False	3:130095372	0	A	130095372	C	A	130095372	2	1	88	1	0	0	0	0	0	0	0	1	3725	668	24	3		3	COL6A5	3	130095372	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399626	130095372	67927058	4449	12161											
COL6A6	131873	broad.mit.edu	37	chr3	130285742	130285742	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatttgagatcaataaataCtccaacaagcaggatttggg	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130285742C>A	ENST00000358511.6	+	4	1510	c.1479C>A	c.(1477-1479)taC>taA	p.Y493*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.Y493*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	493	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAATAAATACTCCAACAAGC	0.488													False	0	True	3:130285742	0	A	130285742	C	A	130285742	4	1	88	1	0	0	0	0	0	1	0	0	3726	576	20	3	1493	3	COL6A6	3	130285742	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190370	130285742	67736688	4450	12162											
COL6A6	131873	broad.mit.edu	37	chr3	130287198	130287198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttcagccccaccaagggCgcccggcccaacatcagaaa	8	17	2	1	rs72992282	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130287198C>T	ENST00000358511.6	+	5	2182	c.2151C>T	c.(2149-2151)ggC>ggT	p.G717G	COL6A6_ENST00000453409.2_Silent_p.G717G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	717	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCACCAAGGGCGCCCGGCCCA	0.498													False	0	True	3:130287198	0	T	130287198	C	T	130287198	2	4	88	1	0	0	0	0	0	0	0	1	3726	755	27	1		1	COL6A6	3	130287198	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1456	130287198	67735232	4451	12163											
COL6A6	131873	broad.mit.edu	37	chr3	130292992	130292992	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttccactgggaacttTcataggtgaaaaagagatat	11	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130292992T>C	ENST00000358511.6	+	7	3201	c.3170T>C	c.(3169-3171)tTc>tCc	p.F1057S	COL6A6_ENST00000453409.2_Missense_Mutation_p.F1057S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1057	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTGGGAACTTTCATAGGTGAA	0.453													False	0	True	3:130292992	0	C	130292992	T	C	130292992	3	2	88	1	0	0	0	0	1	0	0	0	3726	1783	62	4	3196	4	COL6A6	3	130292992	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5794	130292992	67729438	4452	12164											
PIK3R4	30849	broad.mit.edu	37	chr3	130405110	130405110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaagtgatgaggcccgaCtttaaatcatgctttaaagt	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130405110C>T	ENST00000356763.3	-	15	3977	c.3420G>A	c.(3418-3420)aaG>aaA	p.K1140K	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1140					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGAGGCCCGACTTTAAATCAT	0.478													False	0	True	3:130405110	0	T	130405110	C	T	130405110	2	4	88	1	0	0	0	0	0	0	0	1	11990	564	20	2		2	PIK3R4	3	130405110	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112118	130405110	67617320	4453	12165											
PIK3R4	30849	broad.mit.edu	37	chr3	130425901	130425901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttaggtagggcctgtggcAtgtttggtgggtccagtgac	16	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130425901A>G	ENST00000356763.3	-	11	3169	c.2612T>C	c.(2611-2613)aTg>aCg	p.M871T		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	871					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GGCCTGTGGCATGTTTGGTGG	0.438													False	0	False	3:130425901	0	G	130425901	A	G	130425901	3	3	88	1	0	0	0	0	1	0	0	0	11990	217	8	4	1504	4	PIK3R4	3	130425901	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20791	130425901	67596529	4454	12166											
PIK3R4	30849	broad.mit.edu	37	chr3	130435274	130435274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagaagctgtgctatgGcaggatcctctggcggaggg	15	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130435274G>A	ENST00000356763.3	-	9	2854	c.2297C>T	c.(2296-2298)gCc>gTc	p.A766V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	766					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTGTGCTATGGCAGGATCCTC	0.418													False	0	False	3:130435274	0	A	130435274	G	A	130435274	3	1	88	1	0	0	0	0	1	0	0	0	11990	1203	42	2	1827	2	PIK3R4	3	130435274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9373	130435274	67587156	4455	12167											
PIK3R4	30849	broad.mit.edu	37	chr3	130454718	130454718	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtagcatagttaccaattCtctgatactgtgatcttcaa	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130454718C>A	ENST00000356763.3	-	3	1419	c.862G>T	c.(862-864)Gaa>Taa	p.E288*		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	288	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTTACCAATTCTCTGATACTG	0.318													False	0	False	3:130454718	0	A	130454718	C	A	130454718	4	1	88	1	0	0	0	0	0	1	0	0	11990	922	32	3	3286	3	PIK3R4	3	130454718	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19444	130454718	67567712	4456	12168											
ATP2C1	27032	broad.mit.edu	37	chr3	130656302	130656302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttgttacagttgcctttGttcaggtaagtactctattt	8	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130656302G>A	ENST00000510168.1	+	6	905	c.355G>A	c.(355-357)Gtt>Att	p.V119I	ATP2C1_ENST00000533801.2_Missense_Mutation_p.V114I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.V103I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000359644.3_Missense_Mutation_p.V119I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.V103I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.V119I|ATP2C1_ENST00000504381.1_Missense_Mutation_p.V64I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.V119I|ATP2C1_ENST00000428331.2_Missense_Mutation_p.V119I|ATP2C1_ENST00000393221.4_Missense_Mutation_p.V153I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	119					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AGTTGCCTTTGTTCAGGTAAG	0.333									Hailey-Hailey disease				False	0	True	3:130656302	0	A	130656302	G	A	130656302	3	1	88	1	0	0	0	0	1	0	0	0	1147	1377	48	2	373	2	ATP2C1	3	130656302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201584	130656302	67366128	4457	12169											
ATP2C1	27032	broad.mit.edu	37	chr3	130675022	130675022	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttactcctttggtataatAggtaagagaagagtgagtat	10	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130675022A>C	ENST00000510168.1	+	11	1381	c.831A>C	c.(829-831)atA>atC	p.I277I	ATP2C1_ENST00000533801.2_Splice_Site_p.I272I|ATP2C1_ENST00000507488.2_Splice_Site_p.I261I|ATP2C1_ENST00000422190.2_Splice_Site_p.I277I|ATP2C1_ENST00000504948.1_Splice_Site_p.I261I|ATP2C1_ENST00000505330.1_Splice_Site_p.I261I|ATP2C1_ENST00000359644.3_Splice_Site_p.I277I|ATP2C1_ENST00000513801.1_Splice_Site_p.I261I|ATP2C1_ENST00000328560.8_Splice_Site_p.I277I|ATP2C1_ENST00000504381.1_Splice_Site_p.I222I|ATP2C1_ENST00000508532.1_Splice_Site_p.I277I|ATP2C1_ENST00000428331.2_Splice_Site_p.I277I|ATP2C1_ENST00000393221.4_Splice_Site_p.I311I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	277					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTGGTATAATAGGTAAGAGAA	0.338									Hailey-Hailey disease				False	0	False	3:130675022	0	C	130675022	A	C	130675022	5	2	88	1	0	0	0	0	0	0	1	0	1147	434	15	4	869	4	ATP2C1	3	130675022	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18720	130675022	67347408	4458	12170											
ATP2C1	27032	broad.mit.edu	37	chr3	130716497	130716497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcattcgtaaacctcctcGcaactggaaagacagcattt	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130716497G>A	ENST00000510168.1	+	25	2841	c.2291G>A	c.(2290-2292)cGc>cAc	p.R764H	ATP2C1_ENST00000533801.2_Missense_Mutation_p.R759H|ATP2C1_ENST00000422190.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000504948.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000507488.2_Missense_Mutation_p.R748H|ATP2C1_ENST00000505330.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000359644.3_Missense_Mutation_p.R764H|ATP2C1_ENST00000513801.1_Missense_Mutation_p.R748H|ATP2C1_ENST00000328560.8_Missense_Mutation_p.R764H|ATP2C1_ENST00000504381.1_Missense_Mutation_p.R709H|ATP2C1_ENST00000508532.1_Missense_Mutation_p.R764H|ATP2C1_ENST00000428331.2_Missense_Mutation_p.R764H|ATP2C1_ENST00000393221.4_Missense_Mutation_p.R798H			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	764					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AAACCTCCTCGCAACTGGAAA	0.343									Hailey-Hailey disease				False	0	False	3:130716497	0	A	130716497	G	A	130716497	3	1	88	1	0	0	0	0	1	0	0	0	1147	1087	38	1	2385	1	ATP2C1	3	130716497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41475	130716497	67305933	4459	12171											
NEK11	79858	broad.mit.edu	37	chr3	130851590	130851590	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttttttgccttttgtaggAggatacttcatcgagactta	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130851590A>G	ENST00000383366.4	+	6	750	c.457A>G	c.(457-459)Agg>Ggg	p.R153G	NEK11_ENST00000507910.1_Splice_Site_p.R153G|NEK11_ENST00000429253.2_Splice_Site_p.R153G|NEK11_ENST00000508196.1_Splice_Site_p.R153G|NEK11_ENST00000510688.1_Splice_Site_p.R153G|NEK11_ENST00000356918.4_Splice_Site_p.R153G|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510769.1_Splice_Site_p.R153G|NEK11_ENST00000511262.1_Splice_Site_p.R153G|NEK11_ENST00000412440.2_Splice_Site_p.R5G	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	153	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTTTTGTAGGAGGATACTTCA	0.274													False	0	False	3:130851590	0	G	130851590	A	G	130851590	5	3	88	1	0	0	0	0	0	0	1	0	10391	318	11	4	471	4	NEK11	3	130851590	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	135093	130851590	67170840	4460	12172											
NEK11	79858	broad.mit.edu	37	chr3	130871281	130871281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcatgaatcatgcattcGctggctccaatttcttatcc	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130871281G>A	ENST00000383366.4	+	8	990	c.697G>A	c.(697-699)Gct>Act	p.A233T	NEK11_ENST00000507910.1_Missense_Mutation_p.A233T|NEK11_ENST00000429253.2_Missense_Mutation_p.A233T|NEK11_ENST00000508196.1_Missense_Mutation_p.A233T|NEK11_ENST00000510688.1_Missense_Mutation_p.A233T|NEK11_ENST00000356918.4_Missense_Mutation_p.A233T|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510769.1_Intron|NEK11_ENST00000511262.1_Missense_Mutation_p.A233T|NEK11_ENST00000412440.2_Missense_Mutation_p.A85T	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	233	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.A233P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCATGCATTCGCTGGCTCCAA	0.358													False	0	False	3:130871281	0	A	130871281	G	A	130871281	3	1	88	1	0	0	0	0	1	0	0	0	10391	1087	38	1	719	1	NEK11	3	130871281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19691	130871281	67151149	4461	12173											
NEK11	79858	broad.mit.edu	37	chr3	130992362	130992362	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggctgaagacatgtccccAggaccaccaattttcaacag	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130992362A>C	ENST00000383366.4	+	17	1955	c.1662A>C	c.(1660-1662)ccA>ccC	p.P554P	NEK11_ENST00000429253.2_Silent_p.P554P|NEK11_ENST00000508196.1_Silent_p.P554P|NEK11_ENST00000510769.1_Silent_p.P449P|NEK11_ENST00000510688.1_Intron|NEK11_ENST00000412440.2_Silent_p.P370P	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	554					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ACATGTCCCCAGGACCACCAA	0.483													False	0	True	3:130992362	0	C	130992362	A	C	130992362	2	2	88	1	0	0	0	0	0	0	0	1	10391	175	7	4		4	NEK11	3	130992362	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	121081	130992362	67030068	4462	12174											
NUDT16	131870	broad.mit.edu	37	chr3	131102014	131102014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttttacaggtgctgggCctggtgcgagtgcccctgta	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131102014C>T	ENST00000359850.3	+	3	457	c.318C>T	c.(316-318)ggC>ggT	p.G106G	NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000521288.1_Silent_p.G139G|NUDT16_ENST00000537561.1_Silent_p.G93G	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	139	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						AGGTGCTGGGCCTGGTGCGAG	0.572													False	0	True	3:131102014	0	T	131102014	C	T	131102014	2	4	88	1	0	0	0	0	0	0	0	1	10800	726	26	2		2	NUDT16	3	131102014	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109652	131102014	66920416	4463	12175											
CPNE4	131034	broad.mit.edu	37	chr3	131261625	131261625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accatctgtcaggatcagcaGgatgaagtattgctgcagtc	11	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131261625G>T	ENST00000512055.1	-	19	3441	c.1315C>A	c.(1315-1317)Ctg>Atg	p.L439M	CPNE4_ENST00000502818.1_Missense_Mutation_p.L457M|CPNE4_ENST00000512332.1_Missense_Mutation_p.L457M|CPNE4_ENST00000511604.1_Missense_Mutation_p.L439M|CPNE4_ENST00000429747.1_Missense_Mutation_p.L439M			Q96A23	CPNE4_HUMAN	copine IV	439	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGGATCAGCAGGATGAAGTAT	0.552													False	0	False	3:131261625	0	T	131261625	G	T	131261625	3	4	88	1	0	0	0	0	1	0	0	0	3837	991	35	3	366	3	CPNE4	3	131261625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159611	131261625	66760805	4464	12176											
CPNE4	131034	broad.mit.edu	37	chr3	131274360	131274360	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgtactctggaggtatcCtggcgccaaacccaaaggca	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131274360C>A	ENST00000512055.1	-	16	3223	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	CPNE4_ENST00000502818.1_Missense_Mutation_p.R384M|CPNE4_ENST00000512332.1_Missense_Mutation_p.R384M|CPNE4_ENST00000511604.1_Missense_Mutation_p.R366M|CPNE4_ENST00000429747.1_Missense_Mutation_p.R366M			Q96A23	CPNE4_HUMAN	copine IV	366	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGAGGTATCCTGGCGCCAAA	0.418													False	0	False	3:131274360	0	A	131274360	C	A	131274360	3	1	88	1	0	0	0	0	1	0	0	0	3837	681	24	3	596	3	CPNE4	3	131274360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12735	131274360	66748070	4465	12177											
DNAJC13	23317	broad.mit.edu	37	chr3	132169692	132169692	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaggatttagtagattgGtaagtactattttaaaaaaa	9	1	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132169692G>A	ENST00000260818.6	+	6	785		c.e6+1		DNAJC13_ENST00000486798.1_Splice_Site	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13								heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TAGTAGATTGGTAAGTACTAT	0.303													False	0	False	3:132169692	0	A	132169692	G	A	132169692	5	1	88	1	0	0	0	0	0	0	1	0	4662	1275	44	2	556	2	DNAJC13	3	132169692	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	895332	132169692	65852738	4466	12178											
DNAJC13	23317	broad.mit.edu	37	chr3	132180039	132180039	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatggaagaaccctttttaAactttttcaggtgagagctt	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132180039A>C	ENST00000260818.6	+	15	1951	c.1703A>C	c.(1702-1704)aAa>aCa	p.K568T	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	568							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACCCTTTTTAAACTTTTTCAG	0.393													False	0	True	3:132180039	0	C	132180039	A	C	132180039	3	2	88	1	0	0	0	0	1	0	0	0	4662	14	1	4	1757	4	DNAJC13	3	132180039	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10347	132180039	65842391	4467	12179											
ACAD11	84129	broad.mit.edu	37	chr3	132277901	132277901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacttcgtcaggtccatctgCtaaacgcaaaactcgggtta	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132277901C>A	ENST00000264990.6	-	20	3228	c.2257G>T	c.(2257-2259)Gca>Tca	p.A753S	ACAD11_ENST00000355458.3_Missense_Mutation_p.A649S|ACAD11_ENST00000545291.1_Missense_Mutation_p.A278S	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GGTCCATCTGCTAAACGCAAA	0.458													False	0	False	3:132277901	0	A	132277901	C	A	132277901	3	1	88	1	0	0	0	0	1	0	0	0	109	797	28	3	89	3	ACAD11	3	132277901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97862	132277901	65744529	4468	12180											
ACAD11	84129	broad.mit.edu	37	chr3	132294689	132294689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctgcaaagcgcgttccGccaaacctactgttctcata	7	13	2	1	rs147225179		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132294689G>A	ENST00000264990.6	-	17	2899	c.1928C>T	c.(1927-1929)gCg>gTg	p.A643V	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.A168V	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						AGCGCGTTCCGCCAAACCTAC	0.463													False	0	False	3:132294689	0	A	132294689	G	A	132294689	3	1	88	1	0	0	0	0	1	0	0	0	109	1087	38	1	430	1	ACAD11	3	132294689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16788	132294689	65727741	4469	12181											
ACAD11	84129	broad.mit.edu	37	chr3	132358437	132358437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcattagccactccgataGctgttgcatggcagggatgt	11	10	1	0	rs144758147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132358437G>A	ENST00000264990.6	-	5	1572	c.601C>T	c.(601-603)Cta>Tta	p.L201L	ACAD11_ENST00000355458.3_Silent_p.L201L|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Silent_p.L201L|ACAD11_ENST00000545291.1_5'UTR	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CACTCCGATAGCTGTTGCATG	0.388													False	0	False	3:132358437	0	A	132358437	G	A	132358437	2	1	88	1	0	0	0	0	0	0	0	1	109	962	34	2		2	ACAD11	3	132358437	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63748	132358437	65663993	4470	12182											
UBA5	79876	broad.mit.edu	37	chr3	132394147	132394147	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttggatacaatgcaatgcagGatttttttcctactatgtcc	7	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132394147G>T	ENST00000356232.4	+	9	1940	c.868G>T	c.(868-870)Gat>Tat	p.D290Y	UBA5_ENST00000494238.2_Missense_Mutation_p.D234Y|UBA5_ENST00000473651.1_Missense_Mutation_p.D290Y|UBA5_ENST00000493720.2_Missense_Mutation_p.D290Y|UBA5_ENST00000264991.4_Missense_Mutation_p.D234Y	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	290					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCAATGCAGGATTTTTTTCC	0.323													False	0	False	3:132394147	0	T	132394147	G	T	132394147	3	4	88	1	0	0	0	0	1	0	0	0	16914	1174	41	3	902	3	UBA5	3	132394147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35710	132394147	65628283	4471	12183											
NPHP3	27031	broad.mit.edu	37	chr3	132423136	132423136	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccacagaacatcaccaAaatcatcttcttctggaatg	5	12	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132423136A>C	ENST00000326682.8	-	9	1506	c.1430T>G	c.(1429-1431)tTt>tGt	p.F477C	NPHP3_ENST00000337331.5_Missense_Mutation_p.F477C			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	477					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AACATCACCAAAATCATCTTC	0.413													False	0	True	3:132423136	0	C	132423136	A	C	132423136	3	2	88	1	0	0	0	0	1	0	0	0	10648	14	1	4	2638	4	NPHP3	3	132423136	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28989	132423136	65599294	4472	12184											
BFSP2	8419	broad.mit.edu	37	chr3	133118967	133118967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtggacttgcccaccagtGccagctccagcatgcccctc	9	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133118967G>A	ENST00000302334.2	+	1	129	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	14	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GCCCACCAGTGCCAGCTCCAG	0.617													False	0	False	3:133118967	0	A	133118967	G	A	133118967	3	1	88	1	0	0	0	0	1	0	0	0	1421	1319	46	2	42	2	BFSP2	3	133118967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	695831	133118967	64903463	4473	12185											
BFSP2	8419	broad.mit.edu	37	chr3	133119358	133119358	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcacctggagagcaaagCcacacgctcgggaaactggg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133119358C>A	ENST00000302334.2	+	1	520	c.431C>A	c.(430-432)gCc>gAc	p.A144D		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	144	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GAGAGCAAAGCCACACGCTCG	0.612													False	0	False	3:133119358	0	A	133119358	C	A	133119358	3	1	88	1	0	0	0	0	1	0	0	0	1421	739	26	3	433	3	BFSP2	3	133119358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	391	133119358	64903072	4474	12186											
TOPBP1	11073	broad.mit.edu	37	chr3	133320197	133320197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattctgaataaatgaaataGcttctggtagacagtaattt	7	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133320197G>A	ENST00000260810.5	-	28	4597	c.4466C>T	c.(4465-4467)gCt>gTt	p.A1489V		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1489					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAATGAAATAGCTTCTGGTAG	0.313								Other conserved DNA damage response genes					False	0	False	3:133320197	0	A	133320197	G	A	133320197	3	1	88	1	0	0	0	0	1	0	0	0	16452	971	34	2	106	2	TOPBP1	3	133320197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200839	133320197	64702233	4475	12187											
TOPBP1	11073	broad.mit.edu	37	chr3	133337217	133337217	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgtagggtcatcccaAatgatctgttcattttggga	10	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133337217A>G	ENST00000260810.5	-	21	3563	c.3432T>C	c.(3430-3432)atT>atC	p.I1144I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1144					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GGTCATCCCAAATGATCTGTT	0.458								Other conserved DNA damage response genes					False	0	True	3:133337217	0	G	133337217	A	G	133337217	2	3	88	1	0	0	0	0	0	0	0	1	16452	10	1	4		4	TOPBP1	3	133337217	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17020	133337217	64685213	4476	12188											
TOPBP1	11073	broad.mit.edu	37	chr3	133341974	133341974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacttccatttgatggtgCtgactctttattattggtgg	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133341974C>T	ENST00000260810.5	-	19	3270	c.3139G>A	c.(3139-3141)Gca>Aca	p.A1047T		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1047					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTGATGGTGCTGACTCTTTA	0.274								Other conserved DNA damage response genes					False	0	False	3:133341974	0	T	133341974	C	T	133341974	3	4	88	1	0	0	0	0	1	0	0	0	16452	797	28	2	1469	2	TOPBP1	3	133341974	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4757	133341974	64680456	4477	12189											
TOPBP1	11073	broad.mit.edu	37	chr3	133375563	133375563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtttttatccaagagggaaGcaaaataggtttcttcaggt	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133375563G>T	ENST00000260810.5	-	5	633	c.502C>A	c.(502-504)Ctt>Att	p.L168I	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	168	BRCT 1.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CAAGAGGGAAGCAAAATAGGT	0.323								Other conserved DNA damage response genes					False	0	False	3:133375563	0	T	133375563	G	T	133375563	3	4	88	1	0	0	0	0	1	0	0	0	16452	971	34	3	4162	3	TOPBP1	3	133375563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33589	133375563	64646867	4478	12190											
RAB6B	51560	broad.mit.edu	37	chr3	133547691	133547691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtttgtccagcttgatgtCgatcactgcagggggacggg	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133547691C>T	ENST00000285208.4	-	8	917	c.568G>A	c.(568-570)Gac>Aac	p.D190N	RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Missense_Mutation_p.D190N|RAB6B_ENST00000486858.1_Missense_Mutation_p.D177N	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	190					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						AGCTTGATGTCGATCACTGCA	0.602													False	0	False	3:133547691	0	T	133547691	C	T	133547691	3	4	88	1	0	0	0	0	1	0	0	0	13031	884	31	1	62	1	RAB6B	3	133547691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172128	133547691	64474739	4479	12191											
SLCO2A1	6578	broad.mit.edu	37	chr3	133654654	133654654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttgtcatagtaggcgcagGcccctcgcctccccaagcac	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133654654G>A	ENST00000310926.4	-	13	2051	c.1778C>T	c.(1777-1779)gCc>gTc	p.A593V	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A517V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	593					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GTAGGCGCAGGCCCCTCGCCT	0.597													False	0	True	3:133654654	0	A	133654654	G	A	133654654	3	1	88	1	0	0	0	0	1	0	0	0	14806	1203	42	2	161	2	SLCO2A1	3	133654654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106963	133654654	64367776	4480	12192											
SLCO2A1	6578	broad.mit.edu	37	chr3	133674026	133674026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagctcggcctgcaagcGgctgttgttccctgcaacga	13	13	0	1	rs141264634	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133674026G>A	ENST00000310926.4	-	4	682	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	SLCO2A1_ENST00000493729.1_Intron	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	137					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GCCTGCAAGCGGCTGTTGTTC	0.632													False	0	False	3:133674026	0	A	133674026	G	A	133674026	3	1	88	1	0	0	0	0	1	0	0	0	14806	1116	39	1	1566	1	SLCO2A1	3	133674026	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19372	133674026	64348404	4481	12193											
AMOTL2	51421	broad.mit.edu	37	chr3	134080624	134080624	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccatctctcgctccagcttCtcttgctcctgctgctgttc	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134080624C>T	ENST00000514516.1	-	6	1657	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	AMOTL2_ENST00000513145.1_Silent_p.E435E|AMOTL2_ENST00000249883.5_Silent_p.E435E|AMOTL2_ENST00000422605.2_Silent_p.E435E	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	435										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTCCAGCTTCTCTTGCTCCT	0.652													False	0	False	3:134080624	0	T	134080624	C	T	134080624	2	4	88	1	0	0	0	0	0	0	0	1	584	912	32	2		2	AMOTL2	3	134080624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	406598	134080624	63941806	4482	12194											
AMOTL2	51421	broad.mit.edu	37	chr3	134084677	134084677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgagcaagcagcttggCcaccatgtcctgactgccgg	11	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134084677C>T	ENST00000514516.1	-	5	1613	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	AMOTL2_ENST00000513145.1_Missense_Mutation_p.A421T|AMOTL2_ENST00000249883.5_Missense_Mutation_p.A421T|AMOTL2_ENST00000422605.2_Missense_Mutation_p.A421T	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	421										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGCAGCTTGGCCACCATGTCC	0.567													False	0	False	3:134084677	0	T	134084677	C	T	134084677	3	4	88	1	0	0	0	0	1	0	0	0	584	739	26	2	1105	2	AMOTL2	3	134084677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4053	134084677	63937753	4483	12195											
CEP63	80254	broad.mit.edu	37	chr3	134226043	134226043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatctgaatgggaaggacGtacacatgctctagaaactt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134226043G>A	ENST00000337090.3	+	3	310	c.137G>A	c.(136-138)cGt>cAt	p.R46H	CEP63_ENST00000354446.3_Missense_Mutation_p.R46H|CEP63_ENST00000332047.5_Missense_Mutation_p.R46H|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000513612.2_Missense_Mutation_p.R46H|CEP63_ENST00000606977.1_Missense_Mutation_p.R46H|CEP63_ENST00000383229.3_Missense_Mutation_p.R46H			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	46					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGGAAGGACGTACACATGCT	0.388													False	0	False	3:134226043	0	A	134226043	G	A	134226043	3	1	88	1	0	0	0	0	1	0	0	0	3280	1145	40	1	143	1	CEP63	3	134226043	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141366	134226043	63796387	4484	12196											
KY	339855	broad.mit.edu	37	chr3	134322952	134322952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattaatgccctcctccacGctgaagctgatggagcagcg	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134322952G>A	ENST00000508956.1	-	10	1449	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	KY_ENST00000423778.2_Silent_p.S485S|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	485						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CCTCCTCCACGCTGAAGCTGA	0.622													False	0	False	3:134322952	0	A	134322952	G	A	134322952	2	1	88	1	0	0	0	0	0	0	0	1	8637	1078	38	1		1	KY	3	134322952	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96909	134322952	63699478	4485	12197											
KY	339855	broad.mit.edu	37	chr3	134322979	134322979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatggagcagcgcccgtcGctggtgtggatgatagggtc	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134322979G>A	ENST00000508956.1	-	10	1422	c.1365C>T	c.(1363-1365)agC>agT	p.S455S	KY_ENST00000423778.2_Silent_p.S476S|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	476						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCGCCCGTCGCTGGTGTGGA	0.632													False	0	False	3:134322979	0	A	134322979	G	A	134322979	2	1	88	1	0	0	0	0	0	0	0	1	8637	1078	38	1		1	KY	3	134322979	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	134322979	63699451	4486	12198											
KY	339855	broad.mit.edu	37	chr3	134362215	134362215	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtgctgcttctccaccaAgttttctatttaaggaagac	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134362215A>G	ENST00000423778.2	-	3	266	c.205T>C	c.(205-207)Ttg>Ctg	p.L69L	KY_ENST00000508956.1_Intron|KY_ENST00000503669.1_Silent_p.L69L	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	69						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TTCTCCACCAAGTTTTCTATT	0.547													False	0	False	3:134362215	0	G	134362215	A	G	134362215	2	3	88	1	0	0	0	0	0	0	0	1	8637	69	3	4		4	KY	3	134362215	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39236	134362215	63660215	4487	12199											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721855	135721855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattttacaaattccagtagCcaggaagagatagataaatt	8	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135721855C>A	ENST00000264977.3	+	2	2132	c.1515C>A	c.(1513-1515)agC>agA	p.S505R	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	505					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTCCAGTAGCCAGGAAGAGA	0.343													False	0	False	3:135721855	0	A	135721855	C	A	135721855	3	1	88	1	0	0	0	0	1	0	0	0	12462	738	26	3	1517	3	PPP2R3A	3	135721855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1359640	135721855	62300575	4488	12200											
PPP2R3A	5523	broad.mit.edu	37	chr3	135722249	135722249	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caacttcctcccaggccaatTtatcagtctgtagaagtcct	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135722249T>G	ENST00000264977.3	+	2	2526	c.1909T>G	c.(1909-1911)Tta>Gta	p.L637V	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	637					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAGGCCAATTTATCAGTCTG	0.418													False	0	True	3:135722249	0	G	135722249	T	G	135722249	3	3	88	1	0	0	0	0	1	0	0	0	12462	1838	64	4	1911	4	PPP2R3A	3	135722249	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	394	135722249	62300181	4489	12201											
PPP2R3A	5523	broad.mit.edu	37	chr3	135741936	135741936	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcaaggaaacatctctaCgaagggacccggatttaagg	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135741936C>T	ENST00000334546.2	+	1	360	c.25C>T	c.(25-27)Cga>Tga	p.R9*	PPP2R3A_ENST00000264977.3_Intron|PPP2R3A_ENST00000490467.1_Intron	NM_181897.2	NP_871626.1	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	0					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACATCTCTACGAAGGGACCC	0.433													False	0	False	3:135741936	0	T	135741936	C	T	135741936	4	4	88	1	0	0	0	0	0	1	0	0	12462	528	19	1	2026	1	PPP2R3A	3	135741936	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19687	135741936	62280494	4490	12202											
PPP2R3A	5523	broad.mit.edu	37	chr3	135822208	135822208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacagagagatccctttgCggtccagaaggtaacagtat	11	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135822208C>T	ENST00000264977.3	+	12	3829	c.3212C>T	c.(3211-3213)gCg>gTg	p.A1071V	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A335V|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A450V|PPP2R3A_ENST00000469270.1_3'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1071					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATCCCTTTGCGGTCCAGAAG	0.413													False	0	False	3:135822208	0	T	135822208	C	T	135822208	3	4	88	1	0	0	0	0	1	0	0	0	12462	768	27	1	3390	1	PPP2R3A	3	135822208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80272	135822208	62200222	4491	12203											
MSL2	55167	broad.mit.edu	37	chr3	135870542	135870542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttttgctgattttaggtGttgtgcctccattgggaaca	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135870542G>A	ENST00000309993.2	-	2	1913	c.1181C>T	c.(1180-1182)aCa>aTa	p.T394I	MSL2_ENST00000434835.2_Missense_Mutation_p.T320I	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	394					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GATTTTAGGTGTTGTGCCTCC	0.428													False	0	False	3:135870542	0	A	135870542	G	A	135870542	3	1	88	1	0	0	0	0	1	0	0	0	9945	1377	48	2	556	2	MSL2	3	135870542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48334	135870542	62151888	4492	12204											
STAG1	10274	broad.mit.edu	37	chr3	136068110	136068110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctatcatcttcacccccaGtgactaatgaatttctatag	4	11	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136068110G>A	ENST00000383202.2	-	29	3417	c.3161C>T	c.(3160-3162)aCt>aTt	p.T1054I	STAG1_ENST00000236698.5_Missense_Mutation_p.T1054I|STAG1_ENST00000434713.2_Missense_Mutation_p.T794I|STAG1_ENST00000536929.1_Missense_Mutation_p.T638I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1054					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCACCCCCAGTGACTAATGA	0.418													False	0	False	3:136068110	0	A	136068110	G	A	136068110	3	1	88	1	0	0	0	0	1	0	0	0	15324	1029	36	2	639	2	STAG1	3	136068110	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197568	136068110	61954320	4493	12205											
STAG1	10274	broad.mit.edu	37	chr3	136082224	136082224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgttgcaaactgagaAtgagagtcttggcacactga	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136082224A>G	ENST00000383202.2	-	26	3027	c.2771T>C	c.(2770-2772)aTt>aCt	p.I924T	STAG1_ENST00000236698.5_Missense_Mutation_p.I924T|STAG1_ENST00000434713.2_Intron|STAG1_ENST00000536929.1_Missense_Mutation_p.I508T	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	924					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CAAACTGAGAATGAGAGTCTT	0.358													False	0	False	3:136082224	0	G	136082224	A	G	136082224	3	3	88	1	0	0	0	0	1	0	0	0	15324	101	4	4	1041	4	STAG1	3	136082224	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14114	136082224	61940206	4494	12206											
STAG1	10274	broad.mit.edu	37	chr3	136087969	136087969	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgctctggttctcctcGtcttggtcaataaaaacgtg	8	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136087969G>A	ENST00000383202.2	-	24	2782	c.2526C>T	c.(2524-2526)gaC>gaT	p.D842D	STAG1_ENST00000236698.5_Silent_p.D842D|STAG1_ENST00000434713.2_Silent_p.D616D|STAG1_ENST00000536929.1_Silent_p.D426D	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	842					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGTTCTCCTCGTCTTGGTCAA	0.413													False	0	False	3:136087969	0	A	136087969	G	A	136087969	2	1	88	1	0	0	0	0	0	0	0	1	15324	1136	40	1		1	STAG1	3	136087969	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5745	136087969	61934461	4495	12207											
NCK1	4690	broad.mit.edu	37	chr3	136664506	136664506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgttgacccaggggaacGtctctatgacctcaacatgc	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136664506G>A	ENST00000469404.1	+	2	207	c.116G>A	c.(115-117)cGt>cAt	p.R39H	NCK1_ENST00000288986.2_Missense_Mutation_p.R103H|NCK1_ENST00000481752.1_Missense_Mutation_p.R103H	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	103	SH3 1.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CCAGGGGAACGTCTCTATGAC	0.418													False	0	False	3:136664506	0	A	136664506	G	A	136664506	3	1	88	1	0	0	0	0	1	0	0	0	10287	1145	40	1	314	1	NCK1	3	136664506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	576537	136664506	61357924	4496	12208											
NCK1	4690	broad.mit.edu	37	chr3	136664529	136664529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatgacctcaacatgcccGcttatgtgaaatttaactac	5	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136664529G>A	ENST00000469404.1	+	2	230	c.139G>A	c.(139-141)Gct>Act	p.A47T	NCK1_ENST00000288986.2_Missense_Mutation_p.A111T|NCK1_ENST00000481752.1_Missense_Mutation_p.A111T	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	111	SH3 1.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CAACATGCCCGCTTATGTGAA	0.438													False	0	True	3:136664529	0	A	136664529	G	A	136664529	3	1	88	1	0	0	0	0	1	0	0	0	10287	1087	38	1	337	1	NCK1	3	136664529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	136664529	61357901	4497	12209											
NCK1	4690	broad.mit.edu	37	chr3	136667191	136667191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctactgcattgggcagCgtaaattcagcaccatggaa	10	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136667191C>T	ENST00000469404.1	+	3	929	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	NCK1_ENST00000288986.2_Missense_Mutation_p.R344C|IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000481752.1_Missense_Mutation_p.R344C	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	344					axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CATTGGGCAGCGTAAATTCAG	0.348													False	0	False	3:136667191	0	T	136667191	C	T	136667191	3	4	88	1	0	0	0	0	1	0	0	0	10287	768	27	1	1040	1	NCK1	3	136667191	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2662	136667191	61355239	4498	12210											
DZIP1L	199221	broad.mit.edu	37	chr3	137783593	137783593	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctccaggtttttgaccatCgactgcaccagtgttcctgg	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137783593C>T	ENST00000327532.2	-	15	2381	c.2019G>A	c.(2017-2019)tcG>tcA	p.S673S		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	673						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TTTTGACCATCGACTGCACCA	0.517													False	0	False	3:137783593	0	T	137783593	C	T	137783593	2	4	88	1	0	0	0	0	0	0	0	1	4894	871	31	1		1	DZIP1L	3	137783593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1116402	137783593	60238837	4499	12211											
DZIP1L	199221	broad.mit.edu	37	chr3	137787054	137787054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagtccggggcgtggagCgggggcggacacctgggtca	20	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137787054C>T	ENST00000327532.2	-	13	2133	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	591						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GGGCGTGGAGCGGGGGCGGAC	0.697													False	0	True	3:137787054	0	T	137787054	C	T	137787054	3	4	88	1	0	0	0	0	1	0	0	0	4894	768	27	1	548	1	DZIP1L	3	137787054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3461	137787054	60235376	4500	12212											
DZIP1L	199221	broad.mit.edu	37	chr3	137787193	137787193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctctctggtgaccagtgtGctctgctggcttttgactgg	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137787193G>A	ENST00000327532.2	-	13	1994	c.1632C>T	c.(1630-1632)agC>agT	p.S544S	DZIP1L_ENST00000488595.1_5'UTR	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	544						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TGACCAGTGTGCTCTGCTGGC	0.562											OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	3:137787193	0	A	137787193	G	A	137787193	2	1	88	1	0	0	0	0	0	0	0	1	4894	1310	46	2		2	DZIP1L	3	137787193	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139	137787193	60235237	4501	12213											
DBR1	51163	broad.mit.edu	37	chr3	137893465	137893465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtttgcatgtgacgaTacttgggcggcacggccatg	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137893465T>C	ENST00000260803.4	-	1	326	c.173A>G	c.(172-174)tAt>tGt	p.Y58C	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	58						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CATGTGACGATACTTGGGCGG	0.687													False	0	False	3:137893465	0	C	137893465	T	C	137893465	3	2	88	1	0	0	0	0	1	0	0	0	4282	1406	49	4	1493	4	DBR1	3	137893465	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106272	137893465	60128965	4502	12214											
ARMC8	25852	broad.mit.edu	37	chr3	138007892	138007892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttctgtattaatagggCcattcacatgttaaactgca	6	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138007892C>T	ENST00000469044.1	+	20	2095	c.1824C>T	c.(1822-1824)ggC>ggT	p.G608G	ARMC8_ENST00000485396.1_Silent_p.G535G|ARMC8_ENST00000481646.1_Silent_p.G594G|ARMC8_ENST00000538260.1_Silent_p.G577G|ARMC8_ENST00000393058.3_Silent_p.G598G|ARMC8_ENST00000461822.1_Silent_p.G541G|ARMC8_ENST00000491704.1_Silent_p.G566G|NME9_ENST00000383180.2_Intron|NME9_ENST00000536478.1_Intron|NME9_ENST00000341790.5_Intron|NME9_ENST00000484930.1_Intron|NME9_ENST00000317876.4_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	608							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ATTAATAGGGCCATTCACATG	0.338													False	0	True	3:138007892	0	T	138007892	C	T	138007892	2	4	88	1	0	0	0	0	0	0	0	1	961	726	26	2		2	ARMC8	3	138007892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114427	138007892	60014538	4503	12215											
ESYT3	83850	broad.mit.edu	37	chr3	138191410	138191410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtaccacaaccaccaccaGtgctaccaccgttgccactg	7	17	0	0	rs147770352	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138191410G>A	ENST00000389567.4	+	18	2132	c.1946G>A	c.(1945-1947)aGt>aAt	p.S649N		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	649						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACCACCACCAGTGCTACCACC	0.557													False	0	True	3:138191410	0	A	138191410	G	A	138191410	3	1	88	1	0	0	0	0	1	0	0	0	5298	1029	36	2	2016	2	ESYT3	3	138191410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183518	138191410	59831020	4504	12216											
ESYT3	83850	broad.mit.edu	37	chr3	138192394	138192394	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaggtggggacctcaggCgacggcagctgggtgagatt	18	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138192394C>T	ENST00000389567.4	+	19	2440	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	752						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGACCTCAGGCGACGGCAGCT	0.557													False	0	False	3:138192394	0	T	138192394	C	T	138192394	4	4	88	1	0	0	0	0	0	1	0	0	5298	760	27	1	2328	1	ESYT3	3	138192394	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	984	138192394	59830036	4505	12217											
ESYT3	83850	broad.mit.edu	37	chr3	138195085	138195085	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgaattttttgttcccaTggaagaagtaaagaagaggt	10	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138195085T>C	ENST00000389567.4	+	21	2675	c.2489T>C	c.(2488-2490)aTg>aCg	p.M830T	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	830	C2 3.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TTTGTTCCCATGGAAGAAGTA	0.358													False	0	False	3:138195085	0	C	138195085	T	C	138195085	3	2	88	1	0	0	0	0	1	0	0	0	5298	1464	51	4	2571	4	ESYT3	3	138195085	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2691	138195085	59827345	4506	12218											
C3orf72	401089	broad.mit.edu	37	chr3	138669185	138669185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctactagggaagcgtcGcggctgctctgaggcaggca	15	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138669185G>A	ENST00000383165.3	+	3	430	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	100										large_intestine(1)|lung(3)	4						GGGAAGCGTCGCGGCTGCTCT	0.682													False	0	False	3:138669185	0	A	138669185	G	A	138669185	3	1	88	1	0	0	0	0	1	0	0	0	2260	1087	38	1	309	1	C3orf72	3	138669185	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	474100	138669185	59353245	4507	12219											
C3orf72	401089	broad.mit.edu	37	chr3	138669383	138669383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcctctgcggtgcttggCtagcaaagggaagcttcact	13	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138669383C>T	ENST00000383165.3	+	3	628	c.497C>T	c.(496-498)gCt>gTt	p.A166V		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	166										large_intestine(1)|lung(3)	4						CGGTGCTTGGCTAGCAAAGGG	0.612													False	0	False	3:138669383	0	T	138669383	C	T	138669383	3	4	88	1	0	0	0	0	1	0	0	0	2260	797	28	2	507	2	C3orf72	3	138669383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	138669383	59353047	4508	12220											
COPB2	9276	broad.mit.edu	37	chr3	139097937	139097937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatgaacagcaatacagcGaatgtagtctgagtgtgctt	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139097937G>A	ENST00000333188.5	-	4	488	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	COPB2_ENST00000507777.1_Missense_Mutation_p.R74C|COPB2_ENST00000510491.1_5'UTR	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	103					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.R103C(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GCAATACAGCGAATGTAGTCT	0.383													False	0	False	3:139097937	0	A	139097937	G	A	139097937	3	1	88	1	0	0	0	0	1	0	0	0	3752	1058	37	1	2489	1	COPB2	3	139097937	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	428554	139097937	58924493	4509	12221											
RBP2	5948	broad.mit.edu	37	chr3	139195235	139195235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctcctccttacccagggCcttcatgtagccctcaaagt	7	15	3	0	rs147339826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139195235C>T	ENST00000232217.2	-	1	123	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	23					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	p.A23S(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TTACCCAGGGCCTTCATGTAG	0.547													False	0	True	3:139195235	0	T	139195235	C	T	139195235	3	4	88	1	0	0	0	0	1	0	0	0	13235	739	26	2	353	2	RBP2	3	139195235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97298	139195235	58827195	4510	12222											
NMNAT3	349565	broad.mit.edu	37	chr3	139297773	139297773	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcccaagggtccacccgGatccagtcggatgtctgcag	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139297773G>A	ENST00000406164.1	-	4	686	c.123C>T	c.(121-123)atC>atT	p.I41I	NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000296202.7_Silent_p.I78I|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000512391.1_Silent_p.I78I|NMNAT3_ENST00000511444.1_Silent_p.I41I|NMNAT3_ENST00000339837.5_Silent_p.I41I|NMNAT3_ENST00000413939.2_Intron|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000507242.1_5'UTR			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	78					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.I41I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGTCCACCCGGATCCAGTCGG	0.587													False	0	False	3:139297773	0	A	139297773	G	A	139297773	2	1	88	1	0	0	0	0	0	0	0	1	10568	1164	41	2		2	NMNAT3	3	139297773	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102538	139297773	58724657	4511	12223											
CLSTN2	64084	broad.mit.edu	37	chr3	140277580	140277580	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcaccctccggggcacagAccacttctggagacctgctg	11	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140277580A>C	ENST00000458420.3	+	12	2112	c.1922A>C	c.(1921-1923)gAc>gCc	p.D641A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	641					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CGGGGCACAGACCACTTCTGG	0.572										HNSCC(16;0.037)			False	0	False	3:140277580	0	C	140277580	A	C	140277580	3	2	88	1	0	0	0	0	1	0	0	0	3585	275	10	4	1968	4	CLSTN2	3	140277580	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	979807	140277580	57744850	4512	12224											
SLC25A36	55186	broad.mit.edu	37	chr3	140692672	140692672	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatatgctggtatatcagaGactgttatccattttgttat	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140692672G>T	ENST00000446041.2	+	6	792	c.567G>T	c.(565-567)gaG>gaT	p.E189D	SLC25A36_ENST00000324194.6_Missense_Mutation_p.E189D|SLC25A36_ENST00000453248.2_Missense_Mutation_p.E163D	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	189					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTATATCAGAGACTGTTATCC	0.353													False	0	False	3:140692672	0	T	140692672	G	T	140692672	3	4	88	1	0	0	0	0	1	0	0	0	14580	933	33	3	589	3	SLC25A36	3	140692672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	415092	140692672	57329758	4513	12225											
SPSB4	92369	broad.mit.edu	37	chr3	140785480	140785480	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgctgcccgactcgctgctCgtggtgctggacatggatga	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785480C>T	ENST00000310546.2	+	2	1278	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	178	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						ACTCGCTGCTCGTGGTGCTGG	0.667													False	0	False	3:140785480	0	T	140785480	C	T	140785480	2	4	88	1	0	0	0	0	0	0	0	1	15197	871	31	1		1	SPSB4	3	140785480	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92808	140785480	57236950	4514	12226											
SPSB4	92369	broad.mit.edu	37	chr3	140785540	140785540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatggccagtacctgggCgtggccttccgaggtctcaa	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785540C>T	ENST00000310546.2	+	2	1338	c.594C>T	c.(592-594)ggC>ggT	p.G198G		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	198	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						AGTACCTGGGCGTGGCCTTCC	0.632													False	0	True	3:140785540	0	T	140785540	C	T	140785540	2	4	88	1	0	0	0	0	0	0	0	1	15197	755	27	1		1	SPSB4	3	140785540	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	140785540	57236890	4515	12227											
SPSB4	92369	broad.mit.edu	37	chr3	140785571	140785571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtctcaagggcaagaagCtgtacccggtggtgagtgcc	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785571C>T	ENST00000310546.2	+	2	1369	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	209	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GGGCAAGAAGCTGTACCCGGT	0.617													False	0	False	3:140785571	0	T	140785571	C	T	140785571	2	4	88	1	0	0	0	0	0	0	0	1	15197	796	28	2		2	SPSB4	3	140785571	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	140785571	57236859	4516	12228											
ZBTB38	253461	broad.mit.edu	37	chr3	141163088	141163088	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taccaacgctgaatttccaaGatactgtaaacaccctgacc	5	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163088G>T	ENST00000514251.1	+	4	2137	c.1858G>T	c.(1858-1860)Gat>Tat	p.D620Y	ZBTB38_ENST00000441582.2_Missense_Mutation_p.D620Y|ZBTB38_ENST00000321464.5_Missense_Mutation_p.D621Y			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	620					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GAATTTCCAAGATACTGTAAA	0.443													False	0	False	3:141163088	0	T	141163088	G	T	141163088	3	4	88	1	0	0	0	0	1	0	0	0	17622	942	33	3	1860	3	ZBTB38	3	141163088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	377517	141163088	56859342	4517	12229											
ZBTB38	253461	broad.mit.edu	37	chr3	141163405	141163405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcagccagttttcatcGgtgatcatgcacagcaatgc	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163405G>A	ENST00000514251.1	+	4	2454	c.2175G>A	c.(2173-2175)tcG>tcA	p.S725S	ZBTB38_ENST00000441582.2_Silent_p.S725S|ZBTB38_ENST00000321464.5_Silent_p.S726S			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	725					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGTTTTCATCGGTGATCATGC	0.502													False	0	False	3:141163405	0	A	141163405	G	A	141163405	2	1	88	1	0	0	0	0	0	0	0	1	17622	1103	39	1		1	ZBTB38	3	141163405	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	317	141163405	56859025	4518	12230											
ZBTB38	253461	broad.mit.edu	37	chr3	141163589	141163589	+	Missense_Mutation	SNP	G	G	A													ctacatcacataccaggggaGaaataccggaggagtcaaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163589G>A	ENST00000514251.1	+	4	2638	c.2359G>A	c.(2359-2361)Gaa>Aaa	p.E787K	ZBTB38_ENST00000441582.2_Missense_Mutation_p.E787K|ZBTB38_ENST00000321464.5_Missense_Mutation_p.E788K			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	787					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TACCAGGGGAGAAATACCGGA	0.428													False	0	True	3:141163589	0	A	141163589	G	A	141163589	3	1	88	1	0	0	0	0	1	0	0	0	17622	943	33	2	2361	2	ZBTB38	3	141163589	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184	141163589	56858841	4519	12231	167	2									
ZBTB38	253461	broad.mit.edu	37	chr3	141163596	141163596	+	Missense_Mutation	SNP	C	C	T													acataccaggggagaaatacCggaggagtcaaactatgttg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163596C>T	ENST00000514251.1	+	4	2645	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	ZBTB38_ENST00000441582.2_Missense_Mutation_p.P789L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.P790L			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	789					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GGAGAAATACCGGAGGAGTCA	0.428													False	0	False	3:141163596	0	T	141163596	C	T	141163596	3	4	88	1	0	0	0	0	1	0	0	0	17622	652	23	1	2368	1	ZBTB38	3	141163596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	141163596	56858834	4520	12232	167	2									
RASA2	5922	broad.mit.edu	37	chr3	141291549	141291549	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgaaagtaacattaaAacctattcttgatgaggtac	6	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141291549A>C	ENST00000286364.3	+	12	1303	c.1268A>C	c.(1267-1269)aAa>aCa	p.K423T	RASA2_ENST00000452898.1_Missense_Mutation_p.K423T			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	423	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GTAACATTAAAACCTATTCTT	0.373													False	0	True	3:141291549	0	C	141291549	A	C	141291549	3	2	88	1	0	0	0	0	1	0	0	0	13140	14	1	4	1314	4	RASA2	3	141291549	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	127953	141291549	56730881	4521	12233											
GRK7	131890	broad.mit.edu	37	chr3	141497440	141497440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacccaccaaagacagcgCgctgcaggggctggtggcca	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141497440C>T	ENST00000264952.2	+	1	451	c.314C>T	c.(313-315)gCg>gTg	p.A105V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	105	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AAAGACAGCGCGCTGCAGGGG	0.672													False	0	True	3:141497440	0	T	141497440	C	T	141497440	3	4	88	1	0	0	0	0	1	0	0	0	6841	768	27	1	316	1	GRK7	3	141497440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205891	141497440	56524990	4522	12234											
GRK7	131890	broad.mit.edu	37	chr3	141499500	141499500	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgatcttttactcggcccaGatagcctgtgggatgctgca	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141499500G>T	ENST00000264952.2	+	2	1034	c.897G>T	c.(895-897)caG>caT	p.Q299H		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	299	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACTCGGCCCAGATAGCCTGTG	0.547													False	0	False	3:141499500	0	T	141499500	G	T	141499500	3	4	88	1	0	0	0	0	1	0	0	0	6841	933	33	3	903	3	GRK7	3	141499500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2060	141499500	56522930	4523	12235											
GRK7	131890	broad.mit.edu	37	chr3	141526556	141526556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttattcctatcctgtggacTggtttgccatgggatgcagc	12	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141526556T>C	ENST00000264952.2	+	3	1257	c.1120T>C	c.(1120-1122)Tgg>Cgg	p.W374R		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	374	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TCCTGTGGACTGGTTTGCCAT	0.418													False	0	False	3:141526556	0	C	141526556	T	C	141526556	3	2	88	1	0	0	0	0	1	0	0	0	6841	1580	55	4	1130	4	GRK7	3	141526556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27056	141526556	56495874	4524	12236											
GRK7	131890	broad.mit.edu	37	chr3	141526658	141526658	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggatctgaagcaaagaactCtgcaagacgaggtcaaattc	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141526658C>A	ENST00000264952.2	+	3	1359	c.1222C>A	c.(1222-1224)Ctg>Atg	p.L408M		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	408	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.L408V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GCAAAGAACTCTGCAAGACGA	0.428													False	0	False	3:141526658	0	A	141526658	C	A	141526658	3	1	88	1	0	0	0	0	1	0	0	0	6841	912	32	3	1232	3	GRK7	3	141526658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102	141526658	56495772	4525	12237											
ATP1B3	483	broad.mit.edu	37	chr3	141644374	141644374	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttccttttattgccaggTtgggtatctacagccattgg	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141644374T>C	ENST00000286371.3	+	7	859	c.671T>C	c.(670-672)gTt>gCt	p.V224A	ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000462082.1_Splice_Site_p.V34A	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	224					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						TATTGCCAGGTTGGGTATCTA	0.378													False	0	False	3:141644374	0	C	141644374	T	C	141644374	5	2	88	1	0	0	0	0	0	0	1	0	1138	1739	60	4	697	4	ATP1B3	3	141644374	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117716	141644374	56378056	4526	12238											
XRN1	54464	broad.mit.edu	37	chr3	142095328	142095328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacataaacttactttctccTagatcctcttccaataaaaa	1	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142095328T>C	ENST00000264951.4	-	24	2941	c.2824A>G	c.(2824-2826)Agg>Ggg	p.R942G	XRN1_ENST00000392981.2_Missense_Mutation_p.R942G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	942					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TACTTTCTCCTAGATCCTCTT	0.308													False	0	False	3:142095328	0	C	142095328	T	C	142095328	3	2	88	1	0	0	0	0	1	0	0	0	17543	1521	53	4	2372	4	XRN1	3	142095328	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	450954	142095328	55927102	4527	12239											
ATR	545	broad.mit.edu	37	chr3	142168272	142168272	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttttacataatttcatttCacatatatggagtccaacca	3	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142168272C>T	ENST00000350721.4	-	47	8055	c.7934G>A	c.(7933-7935)tGa>tAa	p.*2645*	ATR_ENST00000383101.3_Silent_p.*2581*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	0					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATTTCATTTCACATATATGG	0.313								Other conserved DNA damage response genes					False	0	True	3:142168272	0	T	142168272	C	T	142168272	2	4	88	1	0	0	0	0	0	0	0	1	1208	837	29	2		2	ATR	3	142168272	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72944	142168272	55854158	4528	12240											
ATR	545	broad.mit.edu	37	chr3	142186836	142186836	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttgcatctccaacaaacttCtctaaggattttttcatatg	5	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142186836C>T	ENST00000350721.4	-	39	6748	c.6627G>A	c.(6625-6627)gaG>gaA	p.E2209E	ATR_ENST00000383101.3_Silent_p.E2145E|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2209					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAACAAACTTCTCTAAGGATT	0.353								Other conserved DNA damage response genes					False	0	False	3:142186836	0	T	142186836	C	T	142186836	2	4	88	1	0	0	0	0	0	0	0	1	1208	912	32	2		2	ATR	3	142186836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18564	142186836	55835594	4529	12241											
ATR	545	broad.mit.edu	37	chr3	142212021	142212021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaaagttagctgtttcttCcataaatcggcccactagta	6	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142212021C>T	ENST00000350721.4	-	35	6152	c.6031G>A	c.(6031-6033)Gaa>Aaa	p.E2011K	ATR_ENST00000383101.3_Missense_Mutation_p.E1947K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2011	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTGTTTCTTCCATAAATCGG	0.353								Other conserved DNA damage response genes					False	0	False	3:142212021	0	T	142212021	C	T	142212021	3	4	88	1	0	0	0	0	1	0	0	0	1208	864	30	2	1955	2	ATR	3	142212021	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25185	142212021	55810409	4530	12242											
ATR	545	broad.mit.edu	37	chr3	142232395	142232395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacatacaccagaatatgtGgaagaagatagatggtcact	10	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142232395G>T	ENST00000350721.4	-	26	4710	c.4589C>A	c.(4588-4590)cCa>cAa	p.P1530Q	ATR_ENST00000383101.3_Missense_Mutation_p.P1466Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1530					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAGAATATGTGGAAGAAGATA	0.358								Other conserved DNA damage response genes					False	0	False	3:142232395	0	T	142232395	G	T	142232395	3	4	88	1	0	0	0	0	1	0	0	0	1208	1348	47	3	3433	3	ATR	3	142232395	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20374	142232395	55790035	4531	12243											
ATR	545	broad.mit.edu	37	chr3	142241618	142241618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcggctattatcagcataCgcaaggtaagctcttgttag	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142241618C>T	ENST00000350721.4	-	23	4339	c.4218G>A	c.(4216-4218)gcG>gcA	p.A1406A	ATR_ENST00000383101.3_Silent_p.A1342A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1406					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TATCAGCATACGCAAGGTAAG	0.363								Other conserved DNA damage response genes					False	0	False	3:142241618	0	T	142241618	C	T	142241618	2	4	88	1	0	0	0	0	0	0	0	1	1208	523	19	1		1	ATR	3	142241618	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9223	142241618	55780812	4532	12244											
ATR	545	broad.mit.edu	37	chr3	142242863	142242863	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaatcttttccttgagttTcagttgttgagaaatctaat	6	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142242863T>C	ENST00000350721.4	-	22	4245	c.4124A>G	c.(4123-4125)gAa>gGa	p.E1375G	ATR_ENST00000383101.3_Missense_Mutation_p.E1311G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1375					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCCTTGAGTTTCAGTTGTTGA	0.393								Other conserved DNA damage response genes					False	0	True	3:142242863	0	C	142242863	T	C	142242863	3	2	88	1	0	0	0	0	1	0	0	0	1208	1783	62	4	3914	4	ATR	3	142242863	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1245	142242863	55779567	4533	12245											
ATR	545	broad.mit.edu	37	chr3	142269047	142269047	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acgtatttaaagccatttctCtctggtgagccacatcttgt	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142269047C>A	ENST00000350721.4	-	14	3024	c.2903G>T	c.(2902-2904)aGa>aTa	p.R968I	ATR_ENST00000383101.3_Missense_Mutation_p.R904I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	968					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGCCATTTCTCTCTGGTGAGC	0.403								Other conserved DNA damage response genes					False	0	True	3:142269047	0	A	142269047	C	A	142269047	3	1	88	1	0	0	0	0	1	0	0	0	1208	913	32	3	5167	3	ATR	3	142269047	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26184	142269047	55753383	4534	12246											
ATR	545	broad.mit.edu	37	chr3	142281779	142281779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctatggaggtaaaccaaGtcttcaaaaagttgtaataa	7	6	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142281779G>T	ENST00000350721.4	-	4	586	c.465C>A	c.(463-465)gaC>gaA	p.D155E	ATR_ENST00000383101.3_Missense_Mutation_p.D155E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	155					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGTAAACCAAGTCTTCAAAAA	0.353								Other conserved DNA damage response genes					False	0	False	3:142281779	0	T	142281779	G	T	142281779	3	4	88	1	0	0	0	0	1	0	0	0	1208	1020	36	3	7645	3	ATR	3	142281779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12732	142281779	55740651	4535	12247											
PLS1	5357	broad.mit.edu	37	chr3	142408575	142408575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcctaaacttaatttagCttttgtagctaatttgttta	4	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142408575C>T	ENST00000337777.3	+	10	1310	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V	PLS1_ENST00000457734.2_Missense_Mutation_p.A366V|PLS1_ENST00000497002.1_Missense_Mutation_p.A366V	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	366	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTTAATTTAGCTTTTGTAGCT	0.408													False	0	True	3:142408575	0	T	142408575	C	T	142408575	3	4	88	1	0	0	0	0	1	0	0	0	12176	797	28	2	1131	2	PLS1	3	142408575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126796	142408575	55613855	4536	12248											
PLS1	5357	broad.mit.edu	37	chr3	142430842	142430842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaaggactgaacagaaTaaaataatcatttcatatga	8	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142430842T>C	ENST00000337777.3	+	16	2096	c.1883T>C	c.(1882-1884)aTa>aCa	p.I628T	PLS1_ENST00000457734.2_Missense_Mutation_p.I628T|PLS1_ENST00000497002.1_Missense_Mutation_p.I628T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	628						cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTGAACAGAATAAAATAATCA	0.373													False	0	True	3:142430842	0	C	142430842	T	C	142430842	3	2	88	1	0	0	0	0	1	0	0	0	12176	1406	49	4	1941	4	PLS1	3	142430842	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22267	142430842	55591588	4537	12249											
TRPC1	7220	broad.mit.edu	37	chr3	142443464	142443464	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcctccctgccttcCtctccatcctcttcctcgcc	2	24	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142443464C>A	ENST00000273482.6	+	1	454	c.63C>A	c.(61-63)tcC>tcA	p.S21S	TRPC1_ENST00000476941.1_Silent_p.S21S	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	21					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ccctgccttcctctccatcct	0.642													False	0	False	3:142443464	0	A	142443464	C	A	142443464	2	1	88	1	0	0	0	0	0	0	0	1	16661	668	24	3		3	TRPC1	3	142443464	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12622	142443464	55578966	4538	12250											
TRPC1	7220	broad.mit.edu	37	chr3	142467232	142467232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatgtatctctacccaagCcccatgcagttggctgtgaa	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142467232C>T	ENST00000273482.6	+	3	851	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	TRPC1_ENST00000476941.1_Missense_Mutation_p.P188S	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	188					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCTACCCAAGCCCCATGCAGT	0.383													False	0	True	3:142467232	0	T	142467232	C	T	142467232	3	4	88	1	0	0	0	0	1	0	0	0	16661	739	26	2	470	2	TRPC1	3	142467232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23768	142467232	55555198	4539	12251											
TRPC1	7220	broad.mit.edu	37	chr3	142522866	142522866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtatattttctccttagCgcatgtggcaatctttgtca	8	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142522866C>T	ENST00000273482.6	+	10	2094	c.1703C>T	c.(1702-1704)gCg>gTg	p.A568V	TRPC1_ENST00000476941.1_Missense_Mutation_p.A602V	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	602					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTCTCCTTAGCGCATGTGGCA	0.383													False	0	False	3:142522866	0	T	142522866	C	T	142522866	3	4	88	1	0	0	0	0	1	0	0	0	16661	768	27	1	1741	1	TRPC1	3	142522866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55634	142522866	55499564	4540	12252											
PCOLCE2	26577	broad.mit.edu	37	chr3	142537272	142537272	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catgattttgcctcgcccatCttcacctacttggcccataa	5	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142537272C>T	ENST00000295992.3	-	9	1459	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	PCOLCE2_ENST00000485766.1_3'UTR	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	385	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCTCGCCCATCTTCACCTACT	0.353													False	0	False	3:142537272	0	T	142537272	C	T	142537272	3	4	88	1	0	0	0	0	1	0	0	0	11663	913	32	2	98	2	PCOLCE2	3	142537272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14406	142537272	55485158	4541	12253											
PAQR9	344838	broad.mit.edu	37	chr3	142681742	142681742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcggcgcgcagacgcagcGacaggcagctgaacacgtgc	16	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142681742G>A	ENST00000340634.3	-	1	436	c.437C>T	c.(436-438)tCg>tTg	p.S146L		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	146						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CAGACGCAGCGACAGGCAGCT	0.637													False	0	False	3:142681742	0	A	142681742	G	A	142681742	3	1	88	1	0	0	0	0	1	0	0	0	11510	1059	37	1	700	1	PAQR9	3	142681742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144470	142681742	55340688	4542	12254											
PAQR9	344838	broad.mit.edu	37	chr3	142681855	142681855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaagggcacgtcgccgccGctcaggaagaacagacggca	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142681855G>A	ENST00000340634.3	-	1	323	c.324C>T	c.(322-324)agC>agT	p.S108S	RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	108						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CGTCGCCGCCGCTCAGGAAGA	0.627													False	0	True	3:142681855	0	A	142681855	G	A	142681855	2	1	88	1	0	0	0	0	0	0	0	1	11510	1078	38	1		1	PAQR9	3	142681855	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113	142681855	55340575	4543	12255											
CHST2	9435	broad.mit.edu	37	chr3	142840537	142840537	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcctggcgcgtttcgaggaGgagtgccgcaagtaccgcac	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142840537G>T	ENST00000309575.3	+	2	2263	c.879G>T	c.(877-879)gaG>gaT	p.E293D		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	293					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTTTCGAGGAGGAGTGCCGCA	0.662													False	0	True	3:142840537	0	T	142840537	G	T	142840537	3	4	88	1	0	0	0	0	1	0	0	0	3427	991	35	3	881	3	CHST2	3	142840537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158682	142840537	55181893	4544	12256											
CHST2	9435	broad.mit.edu	37	chr3	142840749	142840749	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccgagacccgcgagctcAccgcatgcccttcttggagg	12	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142840749A>G	ENST00000309575.3	+	2	2475	c.1091A>G	c.(1090-1092)cAc>cGc	p.H364R		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	364					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCGCGAGCTCACCGCATGCCC	0.701													False	0	False	3:142840749	0	G	142840749	A	G	142840749	3	3	88	1	0	0	0	0	1	0	0	0	3427	159	6	4	1093	4	CHST2	3	142840749	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	212	142840749	55181681	4545	12257											
C3orf58	205428	broad.mit.edu	37	chr3	143691407	143691407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtattcgaggcgtgggGccgcttgcgcctgctggact	18	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143691407G>A	ENST00000315691.3	+	1	768	c.233G>A	c.(232-234)gGc>gAc	p.G78D		NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	78						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGGCGTGGGGCCGCTTGCGC	0.682													False	0	True	3:143691407	0	A	143691407	G	A	143691407	3	1	88	1	0	0	0	0	1	0	0	0	2252	1203	42	2	235	2	C3orf58	3	143691407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	850658	143691407	54331023	4546	12258											
C3orf58	205428	broad.mit.edu	37	chr3	143704517	143704517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaaaacgagttgacctcGcttggcaattaatggaaata	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143704517G>A	ENST00000315691.3	+	2	1325	c.790G>A	c.(790-792)Gct>Act	p.A264T	C3orf58_ENST00000441925.2_Missense_Mutation_p.A26T|C3orf58_ENST00000495414.1_Missense_Mutation_p.A55T|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	264						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTTGACCTCGCTTGGCAATT	0.418													False	0	False	3:143704517	0	A	143704517	G	A	143704517	3	1	88	1	0	0	0	0	1	0	0	0	2252	1087	38	1	830	1	C3orf58	3	143704517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13110	143704517	54317913	4547	12259											
C3orf58	205428	broad.mit.edu	37	chr3	143704586	143704586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatttgcactctacctcctgGacgtcagctttgacaatttt	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143704586G>A	ENST00000315691.3	+	2	1394	c.859G>A	c.(859-861)Gac>Aac	p.D287N	C3orf58_ENST00000441925.2_Missense_Mutation_p.D49N|C3orf58_ENST00000495414.1_Missense_Mutation_p.D78N|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	287						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTACCTCCTGGACGTCAGCTT	0.403													False	0	False	3:143704586	0	A	143704586	G	A	143704586	3	1	88	1	0	0	0	0	1	0	0	0	2252	1174	41	2	899	2	C3orf58	3	143704586	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	143704586	54317844	4548	12260											
C3orf58	205428	broad.mit.edu	37	chr3	143708593	143708593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaggccttgctggatgaGtgtgccaacccaaagaagcg	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143708593G>A	ENST00000315691.3	+	3	1738	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	C3orf58_ENST00000441925.2_Silent_p.E163E|C3orf58_ENST00000495414.1_Silent_p.E192E|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	401						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCTGGATGAGTGTGCCAACC	0.507													False	0	False	3:143708593	0	A	143708593	G	A	143708593	2	1	88	1	0	0	0	0	0	0	0	1	2252	1020	36	2		2	C3orf58	3	143708593	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4007	143708593	54313837	4549	12261											
PLOD2	5352	broad.mit.edu	37	chr3	145803071	145803071	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaagtccctaacagtgaAaaagaaaatgaaatgggcat	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:145803071A>C	ENST00000461497.1	-	1	605	c.97T>G	c.(97-99)Ttc>Gtc	p.F33V	PLOD2_ENST00000360060.3_Intron|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000282903.5_Intron|PLOD2_ENST00000494950.1_Intron			O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	0					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTAACAGTGAAAAAGAAAATG	0.294													False	0	True	3:145803071	0	C	145803071	A	C	145803071	3	2	88	1	0	0	0	0	1	0	0	0	12171	29	1	4		4	PLOD2	3	145803071	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2094478	145803071	52219359	4550	12262											
PLSCR4	57088	broad.mit.edu	37	chr3	145912991	145912991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatgtcaaaatggtcagCatctgccattgctgataaca	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:145912991C>T	ENST00000354952.2	-	8	1105	c.865G>A	c.(865-867)Gct>Act	p.A289T	PLSCR4_ENST00000493382.1_Missense_Mutation_p.A289T|PLSCR4_ENST00000383083.2_Missense_Mutation_p.A199T|PLSCR4_ENST00000446574.2_Missense_Mutation_p.A289T|PLSCR4_ENST00000433593.2_Missense_Mutation_p.A184T	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	289					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						AAATGGTCAGCATCTGCCATT	0.428													False	0	False	3:145912991	0	T	145912991	C	T	145912991	3	4	88	1	0	0	0	0	1	0	0	0	12181	710	25	2	132	2	PLSCR4	3	145912991	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109920	145912991	52109439	4551	12263											
PLSCR2	57047	broad.mit.edu	37	chr3	146173186	146173186	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcttctgctgcaaaataaAtcctctgcccaaagctgttc	5	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:146173186A>G	ENST00000497985.1	-	6	819	c.380T>C	c.(379-381)aTt>aCt	p.I127T	PLSCR2_ENST00000336685.2_Missense_Mutation_p.I54T	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	54					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TGCAAAATAAATCCTCTGCCC	0.353													False	0	True	3:146173186	0	G	146173186	A	G	146173186	3	3	88	1	0	0	0	0	1	0	0	0	12179	101	4	4	529	4	PLSCR2	3	146173186	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	260195	146173186	51849244	4552	12264											
ZIC4	84107	broad.mit.edu	37	chr3	147108745	147108745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtcggcggtacgcgccGccaccgccgccgaggaggcc	15	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108745G>A	ENST00000383075.3	-	4	1489	c.977C>T	c.(976-978)gCg>gTg	p.A326V	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.A326V|ZIC4_ENST00000484399.1_Missense_Mutation_p.A326V|ZIC4_ENST00000491672.1_Missense_Mutation_p.A120V|ZIC4_ENST00000425731.3_Missense_Mutation_p.A364V|ZIC4_ENST00000525172.2_Missense_Mutation_p.A376V	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	326						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGTACGCGCCGCCACCGCCGC	0.706													False	0	False	3:147108745	0	A	147108745	G	A	147108745	3	1	88	1	0	0	0	0	1	0	0	0	17764	1087	38	1	35	1	ZIC4	3	147108745	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	935559	147108745	50913685	4553	12265											
ZIC4	84107	broad.mit.edu	37	chr3	147108773	147108773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccgaggaggccacctgggActtgtggccgcagtccgacg	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108773A>G	ENST00000383075.3	-	4	1461	c.949T>C	c.(949-951)Tcc>Ccc	p.S317P	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.S317P|ZIC4_ENST00000484399.1_Missense_Mutation_p.S317P|ZIC4_ENST00000491672.1_Missense_Mutation_p.S111P|ZIC4_ENST00000425731.3_Missense_Mutation_p.S355P|ZIC4_ENST00000525172.2_Missense_Mutation_p.S367P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	317						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCCACCTGGGACTTGTGGCCG	0.711													False	0	True	3:147108773	0	G	147108773	A	G	147108773	3	3	88	1	0	0	0	0	1	0	0	0	17764	275	10	4	63	4	ZIC4	3	147108773	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28	147108773	50913657	4554	12266											
ZIC4	84107	broad.mit.edu	37	chr3	147108846	147108846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtagccagagctgggcggCggcgagcgcccgtgcacctt	16	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108846C>T	ENST00000383075.3	-	4	1388	c.876G>A	c.(874-876)ccG>ccA	p.P292P	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.P292P|ZIC4_ENST00000484399.1_Silent_p.P292P|ZIC4_ENST00000491672.1_Silent_p.P86P|ZIC4_ENST00000425731.3_Silent_p.P330P|ZIC4_ENST00000525172.2_Silent_p.P342P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	292						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGCTGGGCGGCGGCGAGCGCC	0.677													False	0	True	3:147108846	0	T	147108846	C	T	147108846	2	4	88	1	0	0	0	0	0	0	0	1	17764	755	27	1		1	ZIC4	3	147108846	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	147108846	50913584	4555	12267											
ZIC4	84107	broad.mit.edu	37	chr3	147108909	147108909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgcgtgtagcacttgtcGcagccccgcaccttgcacgt	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108909G>A	ENST00000383075.3	-	4	1325	c.813C>T	c.(811-813)tgC>tgT	p.C271C	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Silent_p.C271C|ZIC4_ENST00000484399.1_Silent_p.C271C|ZIC4_ENST00000491672.1_Silent_p.C65C|ZIC4_ENST00000425731.3_Silent_p.C309C|ZIC4_ENST00000525172.2_Silent_p.C321C	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	271						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGCACTTGTCGCAGCCCCGCA	0.642													False	0	False	3:147108909	0	A	147108909	G	A	147108909	2	1	88	1	0	0	0	0	0	0	0	1	17764	1079	38	1		1	ZIC4	3	147108909	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	147108909	50913521	4556	12268											
ZIC4	84107	broad.mit.edu	37	chr3	147113984	147113984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcatgtagcggaagaaagCgccaggaccgtggggcgcag	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147113984C>T	ENST00000383075.3	-	3	855	c.343G>A	c.(343-345)Gct>Act	p.A115T	ZIC4_ENST00000473123.1_Missense_Mutation_p.A115T|ZIC4_ENST00000484399.1_Missense_Mutation_p.A115T|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.A153T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A165T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	115						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGAAGAAAGCGCCAGGACCG	0.677													False	0	False	3:147113984	0	T	147113984	C	T	147113984	3	4	88	1	0	0	0	0	1	0	0	0	17764	768	27	1	673	1	ZIC4	3	147113984	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5075	147113984	50908446	4557	12269											
ZIC4	84107	broad.mit.edu	37	chr3	147114031	147114031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgtcaggttcatgcccCcgtagccatgcagggctgcg	12	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147114031C>T	ENST00000383075.3	-	3	808	c.296G>A	c.(295-297)gGg>gAg	p.G99E	ZIC4_ENST00000473123.1_Missense_Mutation_p.G99E|ZIC4_ENST00000484399.1_Missense_Mutation_p.G99E|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.G137E|ZIC4_ENST00000525172.2_Missense_Mutation_p.G149E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	99						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTTCATGCCCCCGTAGCCATG	0.692													False	0	True	3:147114031	0	T	147114031	C	T	147114031	3	4	88	1	0	0	0	0	1	0	0	0	17764	623	22	2	720	2	ZIC4	3	147114031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47	147114031	50908399	4558	12270											
ZIC4	84107	broad.mit.edu	37	chr3	147114110	147114110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggaagggctccggccgcgCgtacatgtctccagggagcc	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147114110C>T	ENST00000383075.3	-	3	729	c.217G>A	c.(217-219)Gcg>Acg	p.A73T	ZIC4_ENST00000473123.1_Missense_Mutation_p.A73T|ZIC4_ENST00000484399.1_Missense_Mutation_p.A73T|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.A111T|ZIC4_ENST00000525172.2_Missense_Mutation_p.A123T	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	73						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCCGGCCGCGCGTACATGTCT	0.716													False	0	True	3:147114110	0	T	147114110	C	T	147114110	3	4	88	1	0	0	0	0	1	0	0	0	17764	768	27	1	799	1	ZIC4	3	147114110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	147114110	50908320	4559	12271											
ZIC1	7545	broad.mit.edu	37	chr3	147128517	147128517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaacgtgaacatggccgcGcatcacggcgccggcgcctt	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128517G>A	ENST00000282928.4	+	1	1347	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	206					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACATGGCCGCGCATCACGGCG	0.652													False	0	False	3:147128517	0	A	147128517	G	A	147128517	2	1	88	1	0	0	0	0	0	0	0	1	17761	1074	38	1		1	ZIC1	3	147128517	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14407	147128517	50893913	4560	12272											
ZIC1	7545	broad.mit.edu	37	chr3	147128543	147128543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgccggcgccttcttccGctacatgcgccaacccatca	9	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128543G>A	ENST00000282928.4	+	1	1373	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	215					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCTTCTTCCGCTACATGCGC	0.617													False	0	False	3:147128543	0	A	147128543	G	A	147128543	3	1	88	1	0	0	0	0	1	0	0	0	17761	1087	38	1	646	1	ZIC1	3	147128543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	147128543	50893887	4561	12273											
ZIC1	7545	broad.mit.edu	37	chr3	147128793	147128793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatccgcgtgcacacgggCgagaagccctttccctgccc	10	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128793C>T	ENST00000282928.4	+	1	1623	c.894C>T	c.(892-894)ggC>ggT	p.G298G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	298					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGCACACGGGCGAGAAGCCCT	0.557													False	0	True	3:147128793	0	T	147128793	C	T	147128793	2	4	88	1	0	0	0	0	0	0	0	1	17761	755	27	1		1	ZIC1	3	147128793	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250	147128793	50893637	4562	12274											
ZIC1	7545	broad.mit.edu	37	chr3	147131179	147131179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggctcgcagccttcgccGgccgccagctctggctacga	13	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147131179G>A	ENST00000282928.4	+	3	1914	c.1185G>A	c.(1183-1185)ccG>ccA	p.P395P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	395	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCCTTCGCCGGCCGCCAGCT	0.617													False	0	True	3:147131179	0	A	147131179	G	A	147131179	2	1	88	1	0	0	0	0	0	0	0	1	17761	1103	39	1		1	ZIC1	3	147131179	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2386	147131179	50891251	4563	12275											
ZIC1	7545	broad.mit.edu	37	chr3	147131305	147131305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacagccggccacagtgcGctctcttccaattttaacga	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147131305G>A	ENST00000282928.4	+	3	2040	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	437	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCACAGTGCGCTCTCTTCCA	0.493													False	0	True	3:147131305	0	A	147131305	G	A	147131305	2	1	88	1	0	0	0	0	0	0	0	1	17761	1074	38	1		1	ZIC1	3	147131305	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	147131305	50891125	4564	12276											
CPB1	1360	broad.mit.edu	37	chr3	148575278	148575278	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctactgtgaaagaacttgCctcactgcacggcaccaagt	9	12	1	2	rs149931188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148575278C>A	ENST00000491148.1	+	11	1350	c.1016C>A	c.(1015-1017)gCc>gAc	p.A339D	CPB1_ENST00000282957.4_Missense_Mutation_p.A339D|RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000498639.1_3'UTR			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	339					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAAGAACTTGCCTCACTGCAC	0.448													False	0	False	3:148575278	0	A	148575278	C	A	148575278	3	1	88	1	0	0	0	0	1	0	0	0	3819	739	26	3	1054	3	CPB1	3	148575278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1443973	148575278	49447152	4565	12277											
HPS3	84343	broad.mit.edu	37	chr3	148868428	148868428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggtgcagtgcggcggcAgctcgtgaggaggacccgta	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148868428A>G	ENST00000296051.2	+	6	1346	c.1206A>G	c.(1204-1206)gcA>gcG	p.A402A	HPS3_ENST00000460120.1_Silent_p.A237A	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	402						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGCGGCGGCAGCTCGTGAGG	0.517									Hermansky-Pudlak syndrome				False	0	False	3:148868428	0	G	148868428	A	G	148868428	2	3	88	1	0	0	0	0	0	0	0	1	7387	175	7	4		4	HPS3	3	148868428	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	293150	148868428	49154002	4566	12278											
HPS3	84343	broad.mit.edu	37	chr3	148880586	148880586	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcaggaactctttttcaAactcacatcacagtacatct	3	12	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148880586A>G	ENST00000296051.2	+	13	2542	c.2402A>G	c.(2401-2403)aAa>aGa	p.K801R	HPS3_ENST00000460120.1_Missense_Mutation_p.K636R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	801						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTCTTTTTCAAACTCACATCA	0.453									Hermansky-Pudlak syndrome				False	0	True	3:148880586	0	G	148880586	A	G	148880586	3	3	88	1	0	0	0	0	1	0	0	0	7387	14	1	4	2452	4	HPS3	3	148880586	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12158	148880586	49141844	4567	12279											
CP	1356	broad.mit.edu	37	chr3	148895751	148895751	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgtaggtttccaaacAttcttccattaatagctagg	8	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148895751A>G	ENST00000264613.6	-	17	3156	c.2894T>C	c.(2893-2895)aTg>aCg	p.M965T		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	965	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTTTCCAAACATTCTTCCATT	0.343													False	0	False	3:148895751	0	G	148895751	A	G	148895751	3	3	88	1	0	0	0	0	1	0	0	0	3810	217	8	4	315	4	CP	3	148895751	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15165	148895751	49126679	4568	12280											
CP	1356	broad.mit.edu	37	chr3	148925405	148925405	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtgtatccattcacagCtgtaagtcaagagcagagtt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148925405C>A	ENST00000264613.6	-	5	1044		c.e5-1			NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)						cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCATTCACAGCTGTAAGTCAA	0.378													False	0	False	3:148925405	0	A	148925405	C	A	148925405	5	1	88	1	0	0	0	0	0	0	1	0	3810	811	28	3	2476	3	CP	3	148925405	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29654	148925405	49097025	4569	12281											
CP	1356	broad.mit.edu	37	chr3	148939510	148939510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaataattccaatgtaatAatgcttttctttcgcccagg	5	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148939510A>G	ENST00000264613.6	-	1	332	c.70T>C	c.(70-72)Tat>Cat	p.Y24H		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	24	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCAATGTAATAATGCTTTTCT	0.353													False	0	False	3:148939510	0	G	148939510	A	G	148939510	3	3	88	1	0	0	0	0	1	0	0	0	3810	362	13	4	3203	4	CP	3	148939510	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14105	148939510	49082920	4570	12282											
TM4SF18	116441	broad.mit.edu	37	chr3	149042779	149042779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatccagaaaaagcaattcCgagggaagaaaagataattg	10	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149042779C>T	ENST00000296059.2	-	4	563	c.298G>A	c.(298-300)Gga>Aga	p.G100R	TM4SF18_ENST00000470080.1_Missense_Mutation_p.G100R|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	100						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AAAGCAATTCCGAGGGAAGAA	0.438													False	0	False	3:149042779	0	T	149042779	C	T	149042779	3	4	88	1	0	0	0	0	1	0	0	0	16049	661	23	1	319	1	TM4SF18	3	149042779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103269	149042779	48979651	4571	12283											
WWTR1	25937	broad.mit.edu	37	chr3	149245659	149245659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgagctattattagtgatgGatctcatgtctggggtcatc	11	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149245659G>A	ENST00000465804.1	-	6	1125	c.869C>T	c.(868-870)tCc>tTc	p.S290F	WWTR1_ENST00000467467.1_Missense_Mutation_p.S290F|WWTR1_ENST00000360632.3_Missense_Mutation_p.S290F	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	290					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATTAGTGATGGATCTCATGTC	0.453			T	CAMTA1	epitheliod hemangioendothelioma								False	0	False	3:149245659	0	A	149245659	G	A	149245659	3	1	88	1	0	0	0	0	1	0	0	0	17501	1174	41	2	345	2	WWTR1	3	149245659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202880	149245659	48776771	4572	12284											
WWTR1	25937	broad.mit.edu	37	chr3	149374688	149374688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtacctctggccagtggCcgtgaaggtcatctcccagc	12	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149374688C>T	ENST00000465804.1	-	3	662	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	WWTR1_ENST00000467467.1_Missense_Mutation_p.A136T|WWTR1_ENST00000360632.3_Missense_Mutation_p.A136T	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	136	WW.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGGCCAGTGGCCGTGAAGGTC	0.647			T	CAMTA1	epitheliod hemangioendothelioma								False	0	False	3:149374688	0	T	149374688	C	T	149374688	3	4	88	1	0	0	0	0	1	0	0	0	17501	739	26	2	820	2	WWTR1	3	149374688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129029	149374688	48647742	4573	12285											
RNF13	11342	broad.mit.edu	37	chr3	149589892	149589892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaaaagacaattcatctgGcactttcatcgtgttaatta	6	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149589892G>A	ENST00000344229.3	+	5	974	c.272G>A	c.(271-273)gGc>gAc	p.G91D	RNF13_ENST00000392894.3_Missense_Mutation_p.G91D|RNF13_ENST00000361785.6_5'UTR	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	91	PA.				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AATTCATCTGGCACTTTCATC	0.308													False	0	False	3:149589892	0	A	149589892	G	A	149589892	3	1	88	1	0	0	0	0	1	0	0	0	13516	1203	42	2	282	2	RNF13	3	149589892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215204	149589892	48432538	4574	12286											
FAM194A	131831	broad.mit.edu	37	chr3	150403768	150403768	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacctccagctcatataaAatatttagtttcgactcttc	3	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150403768A>G	ENST00000295910.6	-	5	703	c.651T>C	c.(649-651)atT>atC	p.I217I	FAM194A_ENST00000491361.1_Silent_p.I71I	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	217										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTCATATAAAATATTTAGTT	0.328													False	0	True	3:150403768	0	G	150403768	A	G	150403768	2	3	88	1	0	0	0	0	0	0	0	1	5562	10	1	4		4	FAM194A	3	150403768	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	813876	150403768	47618662	4575	12287											
SIAH2	6478	broad.mit.edu	37	chr3	150460089	150460089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcccaggtcaatctccGccggttcccattcaactcca	7	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150460089G>A	ENST00000312960.3	-	2	1341	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	272	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCAATCTCCGCCGGTTCCCA	0.567													False	0	False	3:150460089	0	A	150460089	G	A	150460089	3	1	88	1	0	0	0	0	1	0	0	0	14381	1086	38	1	164	1	SIAH2	3	150460089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56321	150460089	47562341	4576	12288											
SIAH2	6478	broad.mit.edu	37	chr3	150460414	150460414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggcaggagtagggacgGtattcacatatgtcttcatg	13	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150460414G>A	ENST00000312960.3	-	2	1016	c.489C>T	c.(487-489)taC>taT	p.Y163Y		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	163	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGTAGGGACGGTATTCACATA	0.527													False	0	False	3:150460414	0	A	150460414	G	A	150460414	2	1	88	1	0	0	0	0	0	0	0	1	14381	1256	44	2		2	SIAH2	3	150460414	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	325	150460414	47562016	4577	12289											
CLRN1	7401	broad.mit.edu	37	chr3	150645882	150645882	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtatatttttcactttgCgttttgtagacataagtccc	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150645882C>T	ENST00000327047.1	-	3	830	c.540G>A	c.(538-540)acG>acA	p.T180T	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Silent_p.T193T|CLRN1_ENST00000295911.2_Silent_p.T104T|CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.3_ENST00000569170.1_Intron	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	180					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTTCACTTTGCGTTTTGTAGA	0.368													False	0	False	3:150645882	0	T	150645882	C	T	150645882	2	4	88	1	0	0	0	0	0	0	0	1	3580	755	27	1		1	CLRN1	3	150645882	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185468	150645882	47376548	4578	12290											
MED12L	116931	broad.mit.edu	37	chr3	150877688	150877688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttttgtgcccggcgtcttTccttgctgctgagcgatagc	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150877688T>C	ENST00000474524.1	+	7	945	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P	MED12L_ENST00000309237.4_Missense_Mutation_p.S303P|MED12L_ENST00000422248.2_Missense_Mutation_p.S303P|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	303					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGGCGTCTTTCCTTGCTGCT	0.557													False	0	True	3:150877688	0	C	150877688	T	C	150877688	3	2	88	1	0	0	0	0	1	0	0	0	9496	1783	62	4	933	4	MED12L	3	150877688	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	231806	150877688	47144742	4579	12291											
MED12L	116931	broad.mit.edu	37	chr3	150877748	150877748	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcaccccacatgatgataGgaccaaacaactcgagtatc	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150877748G>T	ENST00000474524.1	+	7	1005	c.967G>T	c.(967-969)Gga>Tga	p.G323*	MED12L_ENST00000309237.4_Nonsense_Mutation_p.G323*|MED12L_ENST00000422248.2_Nonsense_Mutation_p.G323*|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	323					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATGATGATAGGACCAAACAA	0.607													False	0	False	3:150877748	0	T	150877748	G	T	150877748	4	4	88	1	0	0	0	0	0	1	0	0	9496	1001	35	3	993	3	MED12L	3	150877748	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	150877748	47144682	4580	12292											
MED12L	116931	broad.mit.edu	37	chr3	150881752	150881752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaataagagcgcaaacccaGgctcacccctggatctgctg	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150881752G>T	ENST00000474524.1	+	8	1218	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C	MED12L_ENST00000309237.4_Missense_Mutation_p.G394C|MED12L_ENST00000422248.2_Missense_Mutation_p.G394C|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	394					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGCAAACCCAGGCTCACCCCT	0.502													False	0	False	3:150881752	0	T	150881752	G	T	150881752	3	4	88	1	0	0	0	0	1	0	0	0	9496	1000	35	3	1210	3	MED12L	3	150881752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4004	150881752	47140678	4581	12293											
MED12L	116931	broad.mit.edu	37	chr3	150903146	150903146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgatgaagctgtggtgacGctgttatgtgaatgggccgt	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150903146G>A	ENST00000474524.1	+	11	1562	c.1524G>A	c.(1522-1524)acG>acA	p.T508T	MED12L_ENST00000309237.4_Silent_p.T508T|MED12L_ENST00000422248.2_Silent_p.T508T|MED12L_ENST00000273432.4_Silent_p.T368T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	508					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGTGGTGACGCTGTTATGTG	0.537													False	0	False	3:150903146	0	A	150903146	G	A	150903146	2	1	88	1	0	0	0	0	0	0	0	1	9496	1074	38	1		1	MED12L	3	150903146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21394	150903146	47119284	4582	12294											
GPR171	29909	broad.mit.edu	37	chr3	150916725	150916725	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttgatgggaatcatcAtatttggcaccattataaga	8	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150916725A>C	ENST00000309180.5	-	3	679	c.449T>G	c.(448-450)aTg>aGg	p.M150R	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	150						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGAATCATCATATTTGGCAC	0.378													False	0	False	3:150916725	0	C	150916725	A	C	150916725	3	2	88	1	0	0	0	0	1	0	0	0	6714	217	8	4	514	4	GPR171	3	150916725	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13579	150916725	47105705	4583	12295											
P2RY14	9934	broad.mit.edu	37	chr3	150931407	150931407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgatgctgaatatgttgCggctagatttctttttgacc	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150931407C>T	ENST00000309170.3	-	3	1010	c.698G>A	c.(697-699)cGc>cAc	p.R233H	P2RY14_ENST00000424796.2_Missense_Mutation_p.R233H|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	233						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAATATGTTGCGGCTAGATTT	0.388													False	0	False	3:150931407	0	T	150931407	C	T	150931407	3	4	88	1	0	0	0	0	1	0	0	0	11419	768	27	1	322	1	P2RY14	3	150931407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14682	150931407	47091023	4584	12296											
P2RY14	9934	broad.mit.edu	37	chr3	150931995	150931995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacactccattgagtaggAttcctgcaatgaagaccata	8	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150931995A>G	ENST00000309170.3	-	3	422	c.110T>C	c.(109-111)aTc>aCc	p.I37T	P2RY14_ENST00000424796.2_Missense_Mutation_p.I37T|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	37						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGAGTAGGATTCCTGCAAT	0.443													False	0	False	3:150931995	0	G	150931995	A	G	150931995	3	3	88	1	0	0	0	0	1	0	0	0	11419	333	12	4	910	4	P2RY14	3	150931995	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	588	150931995	47090435	4585	12297											
GPR87	0	broad.mit.edu	37	chr3	151012762	151012762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgaaatggaaatgtcagcGtcattatgaggtctgcaacc	10	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151012762G>A	ENST00000260843.4	-	3	736	c.272C>T	c.(271-273)aCg>aTg	p.T91M	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	91						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAATGTCAGCGTCATTATGAG	0.378													False	0	False	3:151012762	0	A	151012762	G	A	151012762	3	1	88	1	0	0	0	0	1	0	0	0	6762	1145	40	1	808	1	GPR87	3	151012762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80767	151012762	47009668	4586	12298											
P2RY13	53829	broad.mit.edu	37	chr3	151046196	151046196	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggataaaaacagtccagaaAataaactggcatatgttatt	7	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151046196A>C	ENST00000325602.5	-	2	667	c.648T>G	c.(646-648)atT>atG	p.I216M	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	216						integral to membrane|plasma membrane		p.I195M(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CAGTCCAGAAAATAAACTGGC	0.358													False	0	True	3:151046196	0	C	151046196	A	C	151046196	3	2	88	1	0	0	0	0	1	0	0	0	11418	10	1	4	420	4	P2RY13	3	151046196	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33434	151046196	46976234	4587	12299											
P2RY13	53829	broad.mit.edu	37	chr3	151046509	151046509	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaaacgacacacaaaagctCtgagctgccagggtgccagg	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151046509C>T	ENST00000325602.5	-	2	354	c.335G>A	c.(334-336)aGa>aAa	p.R112K	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	112						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CACAAAAGCTCTGAGCTGCCA	0.453													False	0	False	3:151046509	0	T	151046509	C	T	151046509	3	4	88	1	0	0	0	0	1	0	0	0	11418	913	32	2	733	2	P2RY13	3	151046509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	313	151046509	46975921	4588	12300											
MED12L	116931	broad.mit.edu	37	chr3	151100468	151100468	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagtaactggagagaagaaCgataccaagatgacataaaa	9	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151100468C>T	ENST00000474524.1	+	31	4548	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Nonsense_Mutation_p.R1364*	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1504					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGAGAAGAACGATACCAAGA	0.348													False	0	False	3:151100468	0	T	151100468	C	T	151100468	4	4	88	1	0	0	0	0	0	1	0	0	9496	528	19	1	4632	1	MED12L	3	151100468	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53959	151100468	46921962	4589	12301											
MED12L	116931	broad.mit.edu	37	chr3	151129262	151129262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctatgttcagcagcaggcctCgccgtacctgcagcccctga	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151129262C>T	ENST00000474524.1	+	39	6040	c.6002C>T	c.(6001-6003)tCg>tTg	p.S2001L	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2001	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGCAGGCCTCGCCGTACCTG	0.517													False	0	False	3:151129262	0	T	151129262	C	T	151129262	3	4	88	1	0	0	0	0	1	0	0	0	9496	893	31	1	6156	1	MED12L	3	151129262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28794	151129262	46893168	4590	12302											
IGSF10	285313	broad.mit.edu	37	chr3	151154517	151154517	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgcataatcactaccaAgtgggttctttgctgtgcat	9	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151154517A>T	ENST00000282466.3	-	6	7831	c.7832T>A	c.(7831-7833)cTt>cAt	p.L2611H	IGSF10_ENST00000495443.1_5'UTR|MED12L_ENST00000474524.1_3'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2611	Ig-like C2-type 12.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCACTACCAAGTGGGTTCTT	0.383													False	0	False	3:151154517	0	T	151154517	A	T	151154517	3	4	88	1	0	0	0	0	1	0	0	0	7647	72	3	5	43	5	IGSF10	3	151154517	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25255	151154517	46867913	4591	12303											
IGSF10	285313	broad.mit.edu	37	chr3	151155762	151155762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgttgatggtcaaagacCcattggcatgaaatgtgtac	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151155762C>T	ENST00000282466.3	-	6	6586	c.6587G>A	c.(6586-6588)gGg>gAg	p.G2196E	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2196	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTCAAAGACCCATTGGCATG	0.438													False	0	True	3:151155762	0	T	151155762	C	T	151155762	3	4	88	1	0	0	0	0	1	0	0	0	7647	623	22	2	1288	2	IGSF10	3	151155762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1245	151155762	46866668	4592	12304											
IGSF10	285313	broad.mit.edu	37	chr3	151163109	151163109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatttaactgttgttagtgCtggcatgggagtagaatgta	13	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151163109C>T	ENST00000282466.3	-	4	4659	c.4660G>A	c.(4660-4662)Gca>Aca	p.A1554T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1554					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTGTTAGTGCTGGCATGGGA	0.413													False	0	False	3:151163109	0	T	151163109	C	T	151163109	3	4	88	1	0	0	0	0	1	0	0	0	7647	797	28	2	3271	2	IGSF10	3	151163109	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7347	151163109	46859321	4593	12305											
IGSF10	285313	broad.mit.edu	37	chr3	151165609	151165609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtgttaattcccgataGttgtgcctcttacttgtgct	10	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151165609G>A	ENST00000282466.3	-	4	2159	c.2160C>T	c.(2158-2160)aaC>aaT	p.N720N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	720					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCCCGATAGTTGTGCCTCT	0.498													False	0	False	3:151165609	0	A	151165609	G	A	151165609	2	1	88	1	0	0	0	0	0	0	0	1	7647	1020	36	2		2	IGSF10	3	151165609	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2500	151165609	46856821	4594	12306											
IGSF10	285313	broad.mit.edu	37	chr3	151166366	151166366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtccatttgtgtttcActggcctcatctctgctctt	6	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151166366A>G	ENST00000282466.3	-	4	1402	c.1403T>C	c.(1402-1404)gTg>gCg	p.V468A		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	468	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTGTGTTTCACTGGCCTCAT	0.463													False	0	False	3:151166366	0	G	151166366	A	G	151166366	3	3	88	1	0	0	0	0	1	0	0	0	7647	159	6	4	6528	4	IGSF10	3	151166366	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	757	151166366	46856064	4595	12307											
AADACL2	344752	broad.mit.edu	37	chr3	151451884	151451884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtctctcatttttacAcacccatgccagacaacatt	3	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151451884A>G	ENST00000356517.3	+	1	170	c.61A>G	c.(61-63)Aca>Gca	p.T21A		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	21						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TCATTTTTACACACCCATGCC	0.383													False	0	True	3:151451884	0	G	151451884	A	G	151451884	3	3	88	1	0	0	0	0	1	0	0	0	11	159	6	4	63	4	AADACL2	3	151451884	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	285518	151451884	46570546	4596	12308											
AADACL2	344752	broad.mit.edu	37	chr3	151458616	151458616	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaacccgaaggcgagctgtGatatattttcatggtggtgg	14	6	1	1	rs144315490		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151458616G>A	ENST00000356517.3	+	2	430	c.321G>A	c.(319-321)gtG>gtA	p.V107V		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	107						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGCGAGCTGTGATATATTTTC	0.353													False	0	True	3:151458616	0	A	151458616	G	A	151458616	2	1	88	1	0	0	0	0	0	0	0	1	11	1277	45	2		2	AADACL2	3	151458616	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6732	151458616	46563814	4597	12309											
AADACL2	344752	broad.mit.edu	37	chr3	151463297	151463297	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattattctttctttaaagCtataggctggctcctcaaca	5	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151463297C>T	ENST00000356517.3	+	4	541	c.432C>T	c.(430-432)gaC>gaT	p.D144D		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	144						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCTTTAAAGCTATAGGCTGG	0.343													False	0	False	3:151463297	0	T	151463297	C	T	151463297	5	4	88	1	0	0	0	0	0	0	1	0	11	811	28	2	446	2	AADACL2	3	151463297	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4681	151463297	46559133	4598	12310											
AADACL2	344752	broad.mit.edu	37	chr3	151475275	151475275	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagttgttcatgaacatattGaggatggaattcatggagct	11	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151475275G>A	ENST00000356517.3	+	5	1208	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	367						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGAACATATTGAGGATGGAAT	0.343													False	0	False	3:151475275	0	A	151475275	G	A	151475275	3	1	88	1	0	0	0	0	1	0	0	0	11	1291	45	2	1117	2	AADACL2	3	151475275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11978	151475275	46547155	4599	12311											
SUCNR1	56670	broad.mit.edu	37	chr3	151598717	151598717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gataattaagtatcctttccGagaacaccttctgcaaaaga	6	9	1	2	rs148906217	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151598717G>A	ENST00000362032.5	+	3	491	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TATCCTTTCCGAGAACACCTT	0.368													False	0	False	3:151598717	0	A	151598717	G	A	151598717	3	1	88	1	0	0	0	0	1	0	0	0	15448	1058	37	1	392	1	SUCNR1	3	151598717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123442	151598717	46423713	4600	12312											
MBNL1	4154	broad.mit.edu	37	chr3	152150554	152150554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaatgcatcagcagccGcctttaatccctatctggga	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152150554G>A	ENST00000282486.6	+	4	2236	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	MBNL1_ENST00000357472.3_Missense_Mutation_p.A132T|MBNL1_ENST00000493459.1_Missense_Mutation_p.A75T|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000355460.2_Missense_Mutation_p.A132T|MBNL1_ENST00000492948.1_Missense_Mutation_p.A132T|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000324210.5_Missense_Mutation_p.A132T|MBNL1_ENST00000498502.1_Missense_Mutation_p.A132T|MBNL1_ENST00000324196.5_Missense_Mutation_p.A132T|MBNL1_ENST00000485509.1_Missense_Mutation_p.A132T|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000463374.1_Missense_Mutation_p.A132T			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	132					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCAGCAGCCGCCTTTAATCC	0.473													False	0	False	3:152150554	0	A	152150554	G	A	152150554	3	1	88	1	0	0	0	0	1	0	0	0	9420	1087	38	1	404	1	MBNL1	3	152150554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	551837	152150554	45871876	4601	12313											
P2RY1	5028	broad.mit.edu	37	chr3	152554367	152554367	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttacctggtaatcattgtaCtgactgtttttgctgtgtct	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152554367C>A	ENST00000305097.3	+	1	1632	c.796C>A	c.(796-798)Ctg>Atg	p.L266M		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	266					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AATCATTGTACTGACTGTTTT	0.423													False	0	True	3:152554367	0	A	152554367	C	A	152554367	3	1	88	1	0	0	0	0	1	0	0	0	11414	564	20	3	798	3	P2RY1	3	152554367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	403813	152554367	45468063	4602	12314											
P2RY1	5028	broad.mit.edu	37	chr3	152554451	152554451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgattttcagaccccaGcaatgtgtgctttcaatgac	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152554451G>T	ENST00000305097.3	+	1	1716	c.880G>T	c.(880-882)Gca>Tca	p.A294S		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	294					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCAGACCCCAGCAATGTGTGC	0.458													False	0	False	3:152554451	0	T	152554451	G	T	152554451	3	4	88	1	0	0	0	0	1	0	0	0	11414	971	34	3	882	3	P2RY1	3	152554451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84	152554451	45467979	4603	12315											
RAP2B	5912	broad.mit.edu	37	chr3	152880895	152880895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaggccctggctgaggagtGgagctgccccttcatggaga	15	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152880895G>T	ENST00000323534.2	+	1	867	c.413G>T	c.(412-414)tGg>tTg	p.W138L		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	138					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GCTGAGGAGTGGAGCTGCCCC	0.632													False	0	False	3:152880895	0	T	152880895	G	T	152880895	3	4	88	1	0	0	0	0	1	0	0	0	13120	1357	47	3	415	3	RAP2B	3	152880895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326444	152880895	45141535	4604	12316											
C3orf79	152118	broad.mit.edu	37	chr3	153220229	153220229	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaactgaaatacagagaggCtcctttgcaaaccagtatca	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153220229C>A	ENST00000446603.2	+	3	323	c.261C>A	c.(259-261)ggC>ggA	p.G87G	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	87										endometrium(1)|large_intestine(3)	4						TACAGAGAGGCTCCTTTGCAA	0.428													False	0	False	3:153220229	0	A	153220229	C	A	153220229	2	1	88	1	0	0	0	0	0	0	0	1	2263	784	28	3		3	C3orf79	3	153220229	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339334	153220229	44802201	4605	12317											
DHX36	170506	broad.mit.edu	37	chr3	153995419	153995419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctttaggtgatagataaGccagttgtagtgaaagtctg	11	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153995419G>A	ENST00000496811.1	-	23	2736	c.2656C>T	c.(2656-2658)Ctt>Ttt	p.L886F	DHX36_ENST00000329463.5_Missense_Mutation_p.L872F|DHX36_ENST00000308361.6_Missense_Mutation_p.L857F|DHX36_ENST00000544526.1_Missense_Mutation_p.L872F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	886						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGATAGATAAGCCAGTTGTAG	0.333													False	0	False	3:153995419	0	A	153995419	G	A	153995419	3	1	88	1	0	0	0	0	1	0	0	0	4539	971	34	2	382	2	DHX36	3	153995419	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	775190	153995419	44027011	4606	12318											
DHX36	170506	broad.mit.edu	37	chr3	154002724	154002724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatgtggctcaacgggtaatCgtgccaagtggactccaaga	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154002724C>T	ENST00000496811.1	-	18	2164	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	DHX36_ENST00000329463.5_Missense_Mutation_p.R681Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R695Q|DHX36_ENST00000544526.1_Missense_Mutation_p.R681Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	695						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AACGGGTAATCGTGCCAAGTG	0.403													False	0	False	3:154002724	0	T	154002724	C	T	154002724	3	4	88	1	0	0	0	0	1	0	0	0	4539	884	31	1	974	1	DHX36	3	154002724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7305	154002724	44019706	4607	12319											
GPR149	344758	broad.mit.edu	37	chr3	154055600	154055600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttactgttctgcctgtgtGcttctactgtgtctggaatg	10	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154055600G>A	ENST00000389740.2	-	4	2183	c.2084C>T	c.(2083-2085)gCa>gTa	p.A695V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	695						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGCCTGTGTGCTTCTACTGT	0.438													False	0	True	3:154055600	0	A	154055600	G	A	154055600	3	1	88	1	0	0	0	0	1	0	0	0	6700	1319	46	2	115	2	GPR149	3	154055600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52876	154055600	43966830	4608	12320											
GPR149	344758	broad.mit.edu	37	chr3	154146651	154146651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagcatcctctggggAcagggaaaccactctccccg	12	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154146651A>G	ENST00000389740.2	-	1	853	c.754T>C	c.(754-756)Tcc>Ccc	p.S252P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	252						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCCTCTGGGGACAGGGAAACC	0.662													False	0	True	3:154146651	0	G	154146651	A	G	154146651	3	3	88	1	0	0	0	0	1	0	0	0	6700	275	10	4	1457	4	GPR149	3	154146651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91051	154146651	43875779	4609	12321											
MME	4311	broad.mit.edu	37	chr3	154832830	154832830	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaccactgagccttgtacaGactttttcaaatatgcttgc	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154832830G>T	ENST00000460393.1	+	4	364	c.244G>T	c.(244-246)Gac>Tac	p.D82Y	MME_ENST00000492661.1_Missense_Mutation_p.D82Y|MME_ENST00000360490.2_Missense_Mutation_p.D82Y|MME_ENST00000477669.1_3'UTR|MME_ENST00000493237.1_Missense_Mutation_p.D82Y|MME_ENST00000462745.1_Missense_Mutation_p.D82Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	82					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GCCTTGTACAGACTTTTTCAA	0.433													False	0	False	3:154832830	0	T	154832830	G	T	154832830	3	4	88	1	0	0	0	0	1	0	0	0	9712	942	33	3	254	3	MME	3	154832830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	686179	154832830	43189600	4610	12322											
MME	4311	broad.mit.edu	37	chr3	154834705	154834705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaactgaattctaaatAtgggaaaaaagtccttatta	6	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154834705A>G	ENST00000460393.1	+	7	704	c.584A>G	c.(583-585)tAt>tGt	p.Y195C	MME_ENST00000492661.1_Missense_Mutation_p.Y195C|MME_ENST00000360490.2_Missense_Mutation_p.Y195C|MME_ENST00000493237.1_Missense_Mutation_p.Y195C|MME_ENST00000462745.1_Missense_Mutation_p.Y195C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	195					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AATTCTAAATATGGGAAAAAA	0.294													False	0	False	3:154834705	0	G	154834705	A	G	154834705	3	3	88	1	0	0	0	0	1	0	0	0	9712	449	16	4	606	4	MME	3	154834705	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1875	154834705	43187725	4611	12323											
PLCH1	23007	broad.mit.edu	37	chr3	155198762	155198762	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagttttaaataattcacaGtctcaaaagaaaataaattt	4	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155198762G>A	ENST00000460012.1	-	23	5320	c.4963C>T	c.(4963-4965)Ctg>Ttg	p.L1655L	PLCH1_ENST00000414191.1_Silent_p.L1655L|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Silent_p.L1693L|PLCH1_ENST00000334686.6_Silent_p.L1655L|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1693					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATAATTCACAGTCTCAAAAGA	0.338													False	0	False	3:155198762	0	A	155198762	G	A	155198762	2	1	88	1	0	0	0	0	0	0	0	1	12106	1020	36	2		2	PLCH1	3	155198762	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	364057	155198762	42823668	4612	12324											
PLCH1	23007	broad.mit.edu	37	chr3	155199440	155199440	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggtacagggacatgcatatCttgagcactagattgctggg	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155199440C>A	ENST00000460012.1	-	23	4642	c.4285G>T	c.(4285-4287)Gat>Tat	p.D1429Y	PLCH1_ENST00000414191.1_Missense_Mutation_p.D1429Y|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.D1467Y|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1429Y|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1467					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACATGCATATCTTGAGCACTA	0.463													False	0	False	3:155199440	0	A	155199440	C	A	155199440	3	1	88	1	0	0	0	0	1	0	0	0	12106	913	32	3	686	3	PLCH1	3	155199440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	678	155199440	42822990	4613	12325											
PLCH1	23007	broad.mit.edu	37	chr3	155222376	155222376	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagttggtcatgagggatcGtccatgtgatttctttccac	10	8	2	2	rs142222970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155222376G>A	ENST00000460012.1	-	13	1939	c.1582C>T	c.(1582-1584)Cga>Tga	p.R528*	PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R528*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R546*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.R546*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R528*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R546*			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	546					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGAGGGATCGTCCATGTGAT	0.313													False	0	False	3:155222376	0	A	155222376	G	A	155222376	4	1	88	1	0	0	0	0	0	1	0	0	12106	1153	40	1	3508	1	PLCH1	3	155222376	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22936	155222376	42800054	4614	12326											
PLCH1	23007	broad.mit.edu	37	chr3	155286106	155286106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaatagtccgttgtcacaTtattcatctaagaaaaacag	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155286106T>C	ENST00000460012.1	-	7	1046	c.689A>G	c.(688-690)aAt>aGt	p.N230S	PLCH1_ENST00000414191.1_Missense_Mutation_p.N230S|PLCH1_ENST00000494598.1_Missense_Mutation_p.N248S|PLCH1_ENST00000340059.7_Missense_Mutation_p.N248S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N230S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N248S			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	248					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGTTGTCACATTATTCATCTA	0.318													False	0	False	3:155286106	0	C	155286106	T	C	155286106	3	2	88	1	0	0	0	0	1	0	0	0	12106	1493	52	4	4425	4	PLCH1	3	155286106	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63730	155286106	42736324	4615	12327											
C3orf33	285315	broad.mit.edu	37	chr3	155481469	155481469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctgttgtttttaaaaaaCtgtcctttttccatatttct	3	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155481469C>A	ENST00000534941.1	-	6	862	c.593G>T	c.(592-594)aGt>aTt	p.S198I	C3orf33_ENST00000340171.2_Missense_Mutation_p.S241I	NM_173657.1	NP_775928.1	Q96NB5	Q96NB5_HUMAN	chromosome 3 open reading frame 33	198							hydrolase activity, acting on ester bonds|nucleic acid binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTTAAAAAACTGTCCTTTTT	0.299													False	0	True	3:155481469	0	A	155481469	C	A	155481469	3	1	88	1	0	0	0	0	1	0	0	0	2239	565	20	3	166	3	C3orf33	3	155481469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195363	155481469	42540961	4616	12328											
TIPARP	25976	broad.mit.edu	37	chr3	156413716	156413716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagaggttcgatttatgatGtggaataaccactacatcct	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156413716G>A	ENST00000461166.1	+	4	1737	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	TIPARP_ENST00000542783.1_Missense_Mutation_p.M383I|TIPARP_ENST00000486483.1_Missense_Mutation_p.M383I|TIPARP_ENST00000295924.7_Missense_Mutation_p.M383I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	383	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATTTATGATGTGGAATAACC	0.383													False	0	False	3:156413716	0	A	156413716	G	A	156413716	3	1	88	1	0	0	0	0	1	0	0	0	16006	1377	48	2	1159	2	TIPARP	3	156413716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	932247	156413716	41608714	4617	12329											
TIPARP	25976	broad.mit.edu	37	chr3	156421357	156421357	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcaggacttcatccaAgtccctgtttctgcagagga	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156421357A>G	ENST00000461166.1	+	5	1980	c.1392A>G	c.(1390-1392)caA>caG	p.Q464Q	TIPARP_ENST00000542783.1_Silent_p.Q464Q|TIPARP_ENST00000486483.1_Silent_p.Q464Q|TIPARP_ENST00000295924.7_Silent_p.Q464Q	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	464	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACTTCATCCAAGTCCCTGTTT	0.383													False	0	False	3:156421357	0	G	156421357	A	G	156421357	2	3	88	1	0	0	0	0	0	0	0	1	16006	69	3	4		4	TIPARP	3	156421357	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7641	156421357	41601073	4618	12330											
TIPARP	25976	broad.mit.edu	37	chr3	156422599	156422599	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacaactttgaccctcgagtCtgtggaaagcatgctacaat	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156422599C>A	ENST00000461166.1	+	6	2241	c.1653C>A	c.(1651-1653)gtC>gtA	p.V551V	TIPARP_ENST00000542783.1_Silent_p.V551V|TIPARP_ENST00000486483.1_Silent_p.V551V|TIPARP_ENST00000295924.7_Silent_p.V551V	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	551	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCCTCGAGTCTGTGGAAAGC	0.418													False	0	False	3:156422599	0	A	156422599	C	A	156422599	2	1	88	1	0	0	0	0	0	0	0	1	16006	900	32	3		3	TIPARP	3	156422599	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1242	156422599	41599831	4619	12331											
CCNL1	57018	broad.mit.edu	37	chr3	156866190	156866190	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatcccgagacttgctctgaGatcgagaacgagattttttc	10	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156866190G>A	ENST00000295926.3	-	11	1539	c.1421C>T	c.(1420-1422)tCt>tTt	p.S474F	CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	474					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CTTGCTCTGAGATCGAGAACG	0.453													False	0	False	3:156866190	0	A	156866190	G	A	156866190	3	1	88	1	0	0	0	0	1	0	0	0	2954	942	33	2	163	2	CCNL1	3	156866190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	443591	156866190	41156240	4620	12332											
VEPH1	79674	broad.mit.edu	37	chr3	157034982	157034982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caactttgctacacaacttcTcacagtgtctagaaacaaat	4	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157034982T>C	ENST00000362010.2	-	10	2051	c.1744A>G	c.(1744-1746)Aga>Gga	p.R582G	VEPH1_ENST00000392833.2_Missense_Mutation_p.R582G|VEPH1_ENST00000392832.2_Missense_Mutation_p.R582G|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.R582G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	582						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACACAACTTCTCACAGTGTCT	0.378													False	0	False	3:157034982	0	C	157034982	T	C	157034982	3	2	88	1	0	0	0	0	1	0	0	0	17238	1559	54	4	777	4	VEPH1	3	157034982	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	168792	157034982	40987448	4621	12333											
VEPH1	79674	broad.mit.edu	37	chr3	157081170	157081170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccttcaatggtacactgaTcagggactggaatcttcttt	8	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157081170T>C	ENST00000362010.2	-	9	2025	c.1718A>G	c.(1717-1719)gAt>gGt	p.D573G	VEPH1_ENST00000392833.2_Missense_Mutation_p.D573G|VEPH1_ENST00000392832.2_Missense_Mutation_p.D573G|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.D573G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	573						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTACACTGATCAGGGACTGG	0.378													False	0	False	3:157081170	0	C	157081170	T	C	157081170	3	2	88	1	0	0	0	0	1	0	0	0	17238	1435	50	4	807	4	VEPH1	3	157081170	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46188	157081170	40941260	4622	12334											
VEPH1	79674	broad.mit.edu	37	chr3	157099043	157099043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgtctctgctctgaggGcccaagattgaggagaaggt	14	7	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157099043G>A	ENST00000362010.2	-	7	1336	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	VEPH1_ENST00000392833.2_Silent_p.G343G|VEPH1_ENST00000392832.2_Silent_p.G343G|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.G343G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	343						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGCTCTGAGGGCCCAAGATTG	0.507													False	0	True	3:157099043	0	A	157099043	G	A	157099043	2	1	88	1	0	0	0	0	0	0	0	1	17238	1190	42	2		2	VEPH1	3	157099043	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17873	157099043	40923387	4623	12335											
VEPH1	79674	broad.mit.edu	37	chr3	157131821	157131821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgtttaggatgatgTcattatgggttgaatccttc	12	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157131821T>C	ENST00000362010.2	-	6	1062	c.755A>G	c.(754-756)gAc>gGc	p.D252G	VEPH1_ENST00000392833.2_Missense_Mutation_p.D252G|VEPH1_ENST00000392832.2_Missense_Mutation_p.D252G|VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000543418.1_Missense_Mutation_p.D252G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	252						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TAGGATGATGTCATTATGGGT	0.418													False	0	False	3:157131821	0	C	157131821	T	C	157131821	3	2	88	1	0	0	0	0	1	0	0	0	17238	1667	58	4	1782	4	VEPH1	3	157131821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32778	157131821	40890609	4624	12336											
VEPH1	79674	broad.mit.edu	37	chr3	157188105	157188105	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaacactgacatacctGtaaaatgcaactcatgatat	6	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157188105G>A	ENST00000362010.2	-	3	659	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	VEPH1_ENST00000392833.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000392832.2_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000468233.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000543418.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000494677.1_Nonsense_Mutation_p.Q118*|VEPH1_ENST00000537559.1_Nonsense_Mutation_p.Q118*	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	118						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGACATACCTGTAAAATGCAA	0.458													False	0	False	3:157188105	0	A	157188105	G	A	157188105	4	1	88	1	0	0	0	0	0	1	0	0	17238	1386	48	2	2319	2	VEPH1	3	157188105	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56284	157188105	40834325	4625	12337											
SHOX2	6474	broad.mit.edu	37	chr3	157816011	157816011	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagggcgcgtgcgcggccagGtgcggatgcaggtggtggtg	22	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157816011G>A	ENST00000490689.2	-	5	1911	c.378C>T	c.(376-378)caC>caT	p.H126H	SHOX2_ENST00000425436.3_Silent_p.H267H|SHOX2_ENST00000483851.2_Silent_p.H255H|SHOX2_ENST00000389589.4_Silent_p.H291H|SHOX2_ENST00000441443.2_Silent_p.H126H			O60902	SHOX2_HUMAN	short stature homeobox 2	267					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCGCGGCCAGGTGCGGATGCA	0.672													False	0	False	3:157816011	0	A	157816011	G	A	157816011	2	1	88	1	0	0	0	0	0	0	0	1	14370	1252	44	2		2	SHOX2	3	157816011	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	627906	157816011	40206419	4626	12338											
RSRC1	51319	broad.mit.edu	37	chr3	157823784	157823784	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcactttctggtcaaaagaCttggagacgaacgccgtaag	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157823784C>A	ENST00000480820.1	+	0	141				SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000425436.3_Missense_Mutation_p.K10N|SHOX2_ENST00000483851.2_Missense_Mutation_p.K10N|SHOX2_ENST00000389589.4_Missense_Mutation_p.K10N|SHOX2_ENST00000441443.2_5'UTR			Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1						nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GGTCAAAAGACTTGGAGACGA	0.607													False	0	False	3:157823784	0	A	157823784	C	A	157823784	1	1	88	1	0	0	0	0	0	0	0	0	13793	564	20	3		3	RSRC1	3	157823784	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7773	157823784	40198646	4627	12339											
MLF1	4291	broad.mit.edu	37	chr3	158315917	158315917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcattttgttcttcctcaGttatgacttattccaaaata	3	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158315917G>T	ENST00000359117.5	+	4	489	c.253G>T	c.(253-255)Gtt>Ttt	p.V85F	MLF1_ENST00000355893.5_Missense_Mutation_p.V110F|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000471745.1_Missense_Mutation_p.V100F|MLF1_ENST00000478894.2_Missense_Mutation_p.V100F|MLF1_ENST00000469452.1_Intron|MLF1_ENST00000392822.3_Missense_Mutation_p.V141F|MLF1_ENST00000484955.1_Missense_Mutation_p.V85F|MLF1_ENST00000482628.1_Missense_Mutation_p.V85F	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	110	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TTCTTCCTCAGTTATGACTTA	0.368			T	NPM1	AML								False	0	False	3:158315917	0	T	158315917	G	T	158315917	3	4	88	1	0	0	0	0	1	0	0	0	9681	1029	36	3	342	3	MLF1	3	158315917	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	492133	158315917	39706513	4628	12340											
GFM1	85476	broad.mit.edu	37	chr3	158364658	158364658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatcgtcagatgaagcgctAcaacgttccgtttctaactt	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158364658A>G	ENST00000486715.1	+	4	851	c.494A>G	c.(493-495)tAc>tGc	p.Y165C	GFM1_ENST00000264263.5_Missense_Mutation_p.Y165C|GFM1_ENST00000478576.1_Missense_Mutation_p.Y165C	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	165					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ATGAAGCGCTACAACGTTCCG	0.493													False	0	False	3:158364658	0	G	158364658	A	G	158364658	3	3	88	1	0	0	0	0	1	0	0	0	6386	391	14	4	508	4	GFM1	3	158364658	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48741	158364658	39657772	4629	12341											
GFM1	85476	broad.mit.edu	37	chr3	158399842	158399842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccagtatggaaaagtaataGgtgtcctggagcctctggac	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158399842G>T	ENST00000486715.1	+	14	2017	c.1660G>T	c.(1660-1662)Ggt>Tgt	p.G554C	GFM1_ENST00000264263.5_Missense_Mutation_p.G573C|GFM1_ENST00000478576.1_Missense_Mutation_p.G554C	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	554					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AAAAGTAATAGGTGTCCTGGA	0.383													False	0	False	3:158399842	0	T	158399842	G	T	158399842	3	4	88	1	0	0	0	0	1	0	0	0	6386	1000	35	3	1714	3	GFM1	3	158399842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35184	158399842	39622588	4630	12342											
IFT80	57560	broad.mit.edu	37	chr3	160073820	160073820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagttttatcacacaagCgtaaagtatgaaacgatcca	6	11	1	1	rs144738877	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160073820C>T	ENST00000326448.7	-	8	1190	c.758G>A	c.(757-759)cGc>cAc	p.R253H	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R424H|IFT80_ENST00000483465.1_Missense_Mutation_p.R116H|IFT80_ENST00000496589.1_Missense_Mutation_p.R116H	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	253						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATCACACAAGCGTAAAGTATG	0.423													False	0	False	3:160073820	0	T	160073820	C	T	160073820	3	4	88	1	0	0	0	0	1	0	0	0	7614	768	27	1	1627	1	IFT80	3	160073820	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1673978	160073820	37948610	4631	12343											
IFT80	57560	broad.mit.edu	37	chr3	160073860	160073860	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacagcaaataattctccatCtggagcccaggcaactgaag	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160073860C>T	ENST00000326448.7	-	8	1150	c.718G>A	c.(718-720)Gat>Aat	p.D240N	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.D411N|IFT80_ENST00000483465.1_Missense_Mutation_p.D103N|IFT80_ENST00000496589.1_Missense_Mutation_p.D103N	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	240						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AATTCTCCATCTGGAGCCCAG	0.413													False	0	False	3:160073860	0	T	160073860	C	T	160073860	3	4	88	1	0	0	0	0	1	0	0	0	7614	913	32	2	1667	2	IFT80	3	160073860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	160073860	37948570	4632	12344											
SMC4	10051	broad.mit.edu	37	chr3	160149468	160149468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatcctatagaagataatcCtattgaagagatttcggttc	8	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160149468C>A	ENST00000357388.3	+	21	3603	c.3152C>A	c.(3151-3153)cCt>cAt	p.P1051H	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.P1026H|SMC4_ENST00000360111.2_Missense_Mutation_p.P993H|SMC4_ENST00000462787.1_Missense_Mutation_p.P993H|SMC4_ENST00000344722.5_Missense_Mutation_p.P1051H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1051					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAGATAATCCTATTGAAGAG	0.343													False	0	False	3:160149468	0	A	160149468	C	A	160149468	3	1	88	1	0	0	0	0	1	0	0	0	14865	681	24	3	3230	3	SMC4	3	160149468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75608	160149468	37872962	4633	12345											
TRIM59	286827	broad.mit.edu	37	chr3	160156199	160156199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagatctgtacatgctggCgtacatcatcaactttttca	6	10	5	1	rs142551772		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160156199C>T	ENST00000543469.1	-	2	987	c.773G>A	c.(772-774)cGc>cAc	p.R258H	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R258H|TRIM59_ENST00000309784.4_Missense_Mutation_p.R258H			Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	258						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TACATGCTGGCGTACATCATC	0.378													False	0	False	3:160156199	0	T	160156199	C	T	160156199	3	4	88	1	0	0	0	0	1	0	0	0	16615	768	27	1	442	1	TRIM59	3	160156199	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6731	160156199	37866231	4634	12346											
TRIM59	286827	broad.mit.edu	37	chr3	160156854	160156854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatataaaagttaccagatgCctgaagaatgttttccaaac	6	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160156854C>A	ENST00000543469.1	-	2	332	c.118G>T	c.(118-120)Gca>Tca	p.A40S	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.A40S|TRIM59_ENST00000309784.4_Missense_Mutation_p.A40S			Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	40						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTACCAGATGCCTGAAGAATG	0.358													False	0	False	3:160156854	0	A	160156854	C	A	160156854	3	1	88	1	0	0	0	0	1	0	0	0	16615	739	26	3	1097	3	TRIM59	3	160156854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	655	160156854	37865576	4635	12347											
PPM1L	151742	broad.mit.edu	37	chr3	160474238	160474238	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaccgacgaggtgaagaccAtcgtgaagtccagccgggac	13	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160474238A>G	ENST00000498165.1	+	1	243	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	PPM1L_ENST00000497343.1_Missense_Mutation_p.I48V	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	48					protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GGTGAAGACCATCGTGAAGTC	0.567													False	0	False	3:160474238	0	G	160474238	A	G	160474238	3	3	88	1	0	0	0	0	1	0	0	0	12418	217	8	4	144	4	PPM1L	3	160474238	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	317384	160474238	37548192	4636	12348											
NMD3	51068	broad.mit.edu	37	chr3	160952621	160952621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctaaggatttctggaaggCtgtgattcaagtgaggcaaa	13	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160952621C>T	ENST00000460469.1	+	5	919	c.464C>T	c.(463-465)gCt>gTt	p.A155V	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Missense_Mutation_p.A155V|NMD3_ENST00000472947.1_Missense_Mutation_p.A155V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	155					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TTCTGGAAGGCTGTGATTCAA	0.373													False	0	False	3:160952621	0	T	160952621	C	T	160952621	3	4	88	1	0	0	0	0	1	0	0	0	10556	797	28	2	482	2	NMD3	3	160952621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	478383	160952621	37069809	4637	12349											
SI	6476	broad.mit.edu	37	chr3	164735356	164735356	+	Missense_Mutation	SNP	C	C	A													ataggggatgttagcagccaCcatagcgtcatataattccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164735356C>A	ENST00000264382.3	-	31	3801	c.3739G>T	c.(3739-3741)Gtg>Ttg	p.V1247L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1247	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTAGCAGCCACCATAGCGTCA	0.343										HNSCC(35;0.089)			False	0	False	3:164735356	0	A	164735356	C	A	164735356	3	1	88	1	0	0	0	0	1	0	0	0	14378	507	18	3	1816	3	SI	3	164735356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3782735	164735356	33287074	4638	12350	168	2									
SI	6476	broad.mit.edu	37	chr3	164735363	164735363	+	Silent	SNP	G	G	A													atgttagcagccaccatagcGtcatataattcccgaacctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164735363G>A	ENST00000264382.3	-	31	3794	c.3732C>T	c.(3730-3732)gaC>gaT	p.D1244D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1244	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCACCATAGCGTCATATAATT	0.348										HNSCC(35;0.089)			False	0	False	3:164735363	0	A	164735363	G	A	164735363	2	1	88	1	0	0	0	0	0	0	0	1	14378	1136	40	1		1	SI	3	164735363	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	164735363	33287067	4639	12351	168	2									
SI	6476	broad.mit.edu	37	chr3	164748559	164748559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttgccaaatctgcatctgGataacaattaaatctttcat	5	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164748559G>A	ENST00000264382.3	-	25	2895	c.2833C>T	c.(2833-2835)Cca>Tca	p.P945S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	945	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTGCATCTGGATAACAATTA	0.328										HNSCC(35;0.089)			False	0	False	3:164748559	0	A	164748559	G	A	164748559	3	1	88	1	0	0	0	0	1	0	0	0	14378	1174	41	2	2746	2	SI	3	164748559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13196	164748559	33273871	4640	12352											
SLITRK3	22865	broad.mit.edu	37	chr3	164906516	164906516	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcctgtggcattgcatttgGatgccagtaaggtccacacc	11	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906516G>T	ENST00000475390.1	-	2	2546	c.2103C>A	c.(2101-2103)atC>atA	p.I701I	SLITRK3_ENST00000241274.3_Silent_p.I701I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	701						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATTGCATTTGGATGCCAGTAA	0.577										HNSCC(40;0.11)			False	0	False	3:164906516	0	T	164906516	G	T	164906516	2	4	88	1	0	0	0	0	0	0	0	1	14824	1164	41	3		3	SLITRK3	3	164906516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157957	164906516	33115914	4641	12353											
SLITRK3	22865	broad.mit.edu	37	chr3	164906549	164906549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaccttcctgccgcttGcttctgaagggcagcttctt	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906549G>A	ENST00000475390.1	-	2	2513	c.2070C>T	c.(2068-2070)agC>agT	p.S690S	SLITRK3_ENST00000241274.3_Silent_p.S690S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	690						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTGCCGCTTGCTTCTGAAGG	0.562										HNSCC(40;0.11)			False	0	True	3:164906549	0	A	164906549	G	A	164906549	2	1	88	1	0	0	0	0	0	0	0	1	14824	1310	46	2		2	SLITRK3	3	164906549	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	164906549	33115881	4642	12354											
SLITRK3	22865	broad.mit.edu	37	chr3	164906811	164906811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttccagctcaatagtgCgcacatcacggtgcgtgagg	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906811C>T	ENST00000475390.1	-	2	2251	c.1808G>A	c.(1807-1809)cGc>cAc	p.R603H	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R603H			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	603	LRRCT 2.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCAATAGTGCGCACATCACG	0.547										HNSCC(40;0.11)			False	0	False	3:164906811	0	T	164906811	C	T	164906811	3	4	88	1	0	0	0	0	1	0	0	0	14824	768	27	1	1129	1	SLITRK3	3	164906811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	164906811	33115619	4643	12355											
BCHE	590	broad.mit.edu	37	chr3	165491178	165491178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatctattaattagagacCcacacaactttctttcttgc	3	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165491178C>T	ENST00000264381.3	-	4	1967	c.1801G>A	c.(1801-1803)Ggt>Agt	p.G601S	BCHE_ENST00000540653.1_Missense_Mutation_p.G63S	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	601					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AATTAGAGACCCACACAACTT	0.333													False	0	True	3:165491178	0	T	165491178	C	T	165491178	3	4	88	1	0	0	0	0	1	0	0	0	1362	623	22	2	11	2	BCHE	3	165491178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	584367	165491178	32531252	4644	12356											
BCHE	590	broad.mit.edu	37	chr3	165504015	165504015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtcattattcttgttgaCtctgtattcaaggttagata	7	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165504015C>T	ENST00000264381.3	-	3	1768	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	BCHE_ENST00000540653.1_5'UTR	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	534					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTCTTGTTGACTCTGTATTCA	0.358													False	0	False	3:165504015	0	T	165504015	C	T	165504015	2	4	88	1	0	0	0	0	0	0	0	1	1362	564	20	2		2	BCHE	3	165504015	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12837	165504015	32518415	4645	12357											
BCHE	590	broad.mit.edu	37	chr3	165547486	165547486	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgttcaaaatagtagaAaaaggcattatttccccatt	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165547486A>C	ENST00000264381.3	-	2	1502	c.1336T>G	c.(1336-1338)Ttc>Gtc	p.F446V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	446			F -> S (in BChE deficiency).		choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAATAGTAGAAAAAGGCATTA	0.438													False	0	True	3:165547486	0	C	165547486	A	C	165547486	3	2	88	1	0	0	0	0	1	0	0	0	1362	14	1	4	484	4	BCHE	3	165547486	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43471	165547486	32474944	4646	12358											
ZBBX	79740	broad.mit.edu	37	chr3	167031904	167031904	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatcatgaaaagcacaActttcacatgtaggaacaaa	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167031904A>C	ENST00000392766.2	-	16	1615	c.1275T>G	c.(1273-1275)agT>agG	p.S425R	ZBBX_ENST00000307529.5_Splice_Site_p.S425R|ZBBX_ENST00000392764.1_Splice_Site_p.S396R|ZBBX_ENST00000392767.2_Splice_Site_p.S425R|ZBBX_ENST00000455345.2_Splice_Site_p.S425R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	425						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GAAAAGCACAACTTTCACATG	0.279													False	0	False	3:167031904	0	C	167031904	A	C	167031904	5	2	88	1	0	0	0	0	0	0	1	0	17600	57	2	4	1151	4	ZBBX	3	167031904	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1484418	167031904	30990526	4647	12359											
ZBBX	79740	broad.mit.edu	37	chr3	167078481	167078481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accttgaatctgttccttcaGcaattttaatttcacttttc	3	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167078481G>T	ENST00000392766.2	-	7	644	c.304C>A	c.(304-306)Ctg>Atg	p.L102M	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.L102M|ZBBX_ENST00000392764.1_Missense_Mutation_p.L73M|ZBBX_ENST00000392767.2_Missense_Mutation_p.L102M|ZBBX_ENST00000455345.2_Missense_Mutation_p.L102M	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	102						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTTCCTTCAGCAATTTTAAT	0.254													False	0	False	3:167078481	0	T	167078481	G	T	167078481	3	4	88	1	0	0	0	0	1	0	0	0	17600	962	34	3	2158	3	ZBBX	3	167078481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46577	167078481	30943949	4648	12360											
SERPINI2	5276	broad.mit.edu	37	chr3	167159914	167159914	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cattcacagtgaatctaaatCtcttccttttatctcctggg	5	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167159914C>A	ENST00000476257.1	-	10	1499	c.1201G>T	c.(1201-1203)Gat>Tat	p.D401Y	SERPINI2_ENST00000471111.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000461846.1_Missense_Mutation_p.D401Y|SERPINI2_ENST00000264677.4_Missense_Mutation_p.D401Y			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	401					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GAATCTAAATCTCTTCCTTTT	0.323													False	0	False	3:167159914	0	A	167159914	C	A	167159914	3	1	88	1	0	0	0	0	1	0	0	0	14200	913	32	3	20	3	SERPINI2	3	167159914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81433	167159914	30862516	4649	12361											
WDR49	151790	broad.mit.edu	37	chr3	167246892	167246892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctcctgtggtaaggtatCgattcatcttatcagtagac	9	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167246892C>T	ENST00000308378.3	-	10	1603	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	WDR49_ENST00000476376.1_Missense_Mutation_p.R258Q|WDR49_ENST00000453925.2_Missense_Mutation_p.R497Q|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	433										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GGTAAGGTATCGATTCATCTT	0.343													False	0	False	3:167246892	0	T	167246892	C	T	167246892	3	4	88	1	0	0	0	0	1	0	0	0	17386	884	31	1	819	1	WDR49	3	167246892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86978	167246892	30775538	4650	12362											
WDR49	151790	broad.mit.edu	37	chr3	167293928	167293928	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctggtgttgaatatcccaGagtctcaaaacctggatgaa	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167293928G>T	ENST00000308378.3	-	4	569	c.264C>A	c.(262-264)ctC>ctA	p.L88L	WDR49_ENST00000453925.2_Silent_p.L141L|WDR49_ENST00000479765.1_Silent_p.L429L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	88										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAATATCCCAGAGTCTCAAAA	0.388													False	0	False	3:167293928	0	T	167293928	G	T	167293928	2	4	88	1	0	0	0	0	0	0	0	1	17386	929	33	3		3	WDR49	3	167293928	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47036	167293928	30728502	4651	12363											
SERPINI1	5274	broad.mit.edu	37	chr3	167508215	167508215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtaactgctaaagagagCcaatatgtgatgaaaattgc	10	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167508215C>T	ENST00000295777.5	+	3	737	c.306C>T	c.(304-306)agC>agT	p.S102S	SERPINI1_ENST00000446050.2_Silent_p.S102S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	102					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CTAAAGAGAGCCAATATGTGA	0.328													False	0	True	3:167508215	0	T	167508215	C	T	167508215	2	4	88	1	0	0	0	0	0	0	0	1	14199	738	26	2		2	SERPINI1	3	167508215	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214287	167508215	30514215	4652	12364											
GOLIM4	27333	broad.mit.edu	37	chr3	167747014	167747014	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaggaagtctcaccacctcCttcctctccttggattccct	5	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167747014C>A	ENST00000470487.1	-	11	2199	c.1510G>T	c.(1510-1512)Gga>Tga	p.G504*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.G476*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	504	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCACCACCTCCTTCCTCTCCT	0.373													False	0	True	3:167747014	0	A	167747014	C	A	167747014	4	1	88	1	0	0	0	0	0	1	0	0	6611	690	24	3	604	3	GOLIM4	3	167747014	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238799	167747014	30275416	4653	12365											
MECOM	2122	broad.mit.edu	37	chr3	168806814	168806814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggactttctgtgtaacgGctgcttaagttcctctggca	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168806814G>T	ENST00000464456.1	-	14	4168	c.2968C>A	c.(2968-2970)Ccg>Acg	p.P990T	MECOM_ENST00000433243.2_Missense_Mutation_p.P1000T|MECOM_ENST00000460814.1_Missense_Mutation_p.P990T|MECOM_ENST00000264674.3_Missense_Mutation_p.P1064T|MECOM_ENST00000468789.1_Missense_Mutation_p.P999T|MECOM_ENST00000392736.3_Missense_Mutation_p.P999T|MECOM_ENST00000472280.1_Missense_Mutation_p.P1000T|MECOM_ENST00000494292.1_Missense_Mutation_p.P1178T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTGTGTAACGGCTGCTTAAGT	0.388													False	0	False	3:168806814	0	T	168806814	G	T	168806814	3	4	88	1	0	0	0	0	1	0	0	0	9489	1203	42	3	168	3	MECOM	3	168806814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1059800	168806814	29215616	4654	12366											
MECOM	2122	broad.mit.edu	37	chr3	168807822	168807822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcaactcatctccagggCactggtttcttcatagtcat	7	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168807822C>T	ENST00000464456.1	-	13	3976	c.2776G>A	c.(2776-2778)Gcc>Acc	p.A926T	MECOM_ENST00000433243.2_Missense_Mutation_p.A936T|MECOM_ENST00000460814.1_Missense_Mutation_p.A926T|MECOM_ENST00000264674.3_Missense_Mutation_p.A1000T|MECOM_ENST00000468789.1_Missense_Mutation_p.A935T|MECOM_ENST00000392736.3_Missense_Mutation_p.A935T|MECOM_ENST00000472280.1_Missense_Mutation_p.A936T|MECOM_ENST00000494292.1_Missense_Mutation_p.A1114T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCTCCAGGGCACTGGTTTCT	0.438													False	0	True	3:168807822	0	T	168807822	C	T	168807822	3	4	88	1	0	0	0	0	1	0	0	0	9489	710	25	2	364	2	MECOM	3	168807822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1008	168807822	29214608	4655	12367											
MECOM	2122	broad.mit.edu	37	chr3	168819903	168819903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttctctggcagggcattggGaggcgccctgaagttgaaca	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168819903G>A	ENST00000464456.1	-	9	3325	c.2125C>T	c.(2125-2127)Ccc>Tcc	p.P709S	MECOM_ENST00000433243.2_Missense_Mutation_p.P719S|MECOM_ENST00000460814.1_Missense_Mutation_p.P709S|MECOM_ENST00000264674.3_Missense_Mutation_p.P783S|MECOM_ENST00000468789.1_Missense_Mutation_p.P718S|MECOM_ENST00000392736.3_Missense_Mutation_p.P718S|MECOM_ENST00000472280.1_Missense_Mutation_p.P719S|MECOM_ENST00000494292.1_Missense_Mutation_p.P897S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGGGCATTGGGAGGCGCCCTG	0.512													False	0	True	3:168819903	0	A	168819903	G	A	168819903	3	1	88	1	0	0	0	0	1	0	0	0	9489	1174	41	2	1031	2	MECOM	3	168819903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12081	168819903	29202527	4656	12368											
MECOM	2122	broad.mit.edu	37	chr3	168833312	168833312	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtcagctttgtcccactgGctctactcctactgcccata	6	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168833312G>T	ENST00000464456.1	-	7	2984	c.1784C>A	c.(1783-1785)gCc>gAc	p.A595D	MECOM_ENST00000433243.2_Missense_Mutation_p.A596D|MECOM_ENST00000460814.1_Missense_Mutation_p.A595D|MECOM_ENST00000264674.3_Missense_Mutation_p.A660D|MECOM_ENST00000468789.1_Missense_Mutation_p.A595D|MECOM_ENST00000392736.3_Missense_Mutation_p.A595D|MECOM_ENST00000472280.1_Missense_Mutation_p.A596D|MECOM_ENST00000494292.1_Missense_Mutation_p.A783D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	5							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTCCCACTGGCTCTACTCCT	0.532													False	0	False	3:168833312	0	T	168833312	G	T	168833312	3	4	88	1	0	0	0	0	1	0	0	0	9489	1203	42	3	1411	3	MECOM	3	168833312	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13409	168833312	29189118	4657	12369											
MECOM	2122	broad.mit.edu	37	chr3	168834009	168834009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactggcttattgtcccctaCagatgggtgtttagatagtg	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168834009C>T	ENST00000464456.1	-	7	2287	c.1087G>A	c.(1087-1089)Gta>Ata	p.V363I	MECOM_ENST00000433243.2_Missense_Mutation_p.V364I|MECOM_ENST00000460814.1_Missense_Mutation_p.V363I|MECOM_ENST00000264674.3_Missense_Mutation_p.V428I|MECOM_ENST00000468789.1_Missense_Mutation_p.V363I|MECOM_ENST00000392736.3_Missense_Mutation_p.V363I|MECOM_ENST00000472280.1_Missense_Mutation_p.V364I|MECOM_ENST00000494292.1_Missense_Mutation_p.V551I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGTCCCCTACAGATGGGTGT	0.473													False	0	False	3:168834009	0	T	168834009	C	T	168834009	3	4	88	1	0	0	0	0	1	0	0	0	9489	478	17	2	2108	2	MECOM	3	168834009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	697	168834009	29188421	4658	12370											
MECOM	2122	broad.mit.edu	37	chr3	169381144	169381144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggccagtttccttgccCtgcctttggatctcatgctg	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169381144C>T	ENST00000494292.1	-	1	114	c.17G>A	c.(16-18)aGg>aAg	p.R6K	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	6							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTCCTTGCCCTGCCTTTGGA	0.532													False	0	True	3:169381144	0	T	169381144	C	T	169381144	3	4	88	1	0	0	0	0	1	0	0	0	9489	681	24	2	3780	2	MECOM	3	169381144	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	547135	169381144	28641286	4659	12371											
MYNN	55892	broad.mit.edu	37	chr3	169496762	169496762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatcgagagaaatcagaagTatctacagatttgattcagg	9	5	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169496762T>C	ENST00000349841.5	+	3	1136	c.473T>C	c.(472-474)gTa>gCa	p.V158A	MYNN_ENST00000392733.1_Missense_Mutation_p.V158A|MYNN_ENST00000544106.1_Missense_Mutation_p.V158A|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Missense_Mutation_p.V158A	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	158						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AAATCAGAAGTATCTACAGAT	0.363													False	0	False	3:169496762	0	C	169496762	T	C	169496762	3	2	88	1	0	0	0	0	1	0	0	0	10128	1638	57	4	479	4	MYNN	3	169496762	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	115618	169496762	28525668	4660	12372											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540472	169540472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatcccgaagagcttcgccGagctcaggaagatgacggaa	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169540472G>A	ENST00000340806.6	+	1	763	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	255										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGCTTCGCCGAGCTCAGGAA	0.607													False	0	False	3:169540472	0	A	169540472	G	A	169540472	3	1	88	1	0	0	0	0	1	0	0	0	9093	1059	37	1	765	1	LRRIQ4	3	169540472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43710	169540472	28481958	4661	12373											
LRRIQ4	344657	broad.mit.edu	37	chr3	169548369	169548369	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacctagaagttcttgattgCcggcacaatttgcttaagca	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169548369C>A	ENST00000340806.6	+	3	1284	c.1284C>A	c.(1282-1284)tgC>tgA	p.C428*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	428										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTCTTGATTGCCGGCACAATT	0.438													False	0	False	3:169548369	0	A	169548369	C	A	169548369	4	1	88	1	0	0	0	0	0	1	0	0	9093	747	26	3	1294	3	LRRIQ4	3	169548369	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7897	169548369	28474061	4662	12374											
PHC3	80012	broad.mit.edu	37	chr3	169846869	169846869	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggaagatgggatggaAgattcaactgtgctgtagct	15	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169846869A>C	ENST00000495893.2	-	8	1422	c.1391T>G	c.(1390-1392)cTt>cGt	p.L464R	PHC3_ENST00000467570.1_Missense_Mutation_p.L411R|PHC3_ENST00000494943.1_Missense_Mutation_p.L452R	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)		Gln-rich.|Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGGGATGGAAGATTCAACTG	0.522													False	0	False	3:169846869	0	C	169846869	A	C	169846869	3	2	88	1	0	0	0	0	1	0	0	0	11887	72	3	4	1628	4	PHC3	3	169846869	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	298500	169846869	28175561	4663	12375											
PHC3	80012	broad.mit.edu	37	chr3	169890386	169890386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctgggagctgcttaaatGctgctgctgaagagctgcag	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169890386G>A	ENST00000495893.2	-	3	326	c.295C>T	c.(295-297)Cat>Tat	p.H99Y	PHC3_ENST00000497658.1_Missense_Mutation_p.H99Y|PHC3_ENST00000467570.1_Missense_Mutation_p.H99Y|PHC3_ENST00000474275.1_Missense_Mutation_p.H83Y|PHC3_ENST00000481639.1_Missense_Mutation_p.H95Y|PHC3_ENST00000494943.1_Missense_Mutation_p.H87Y	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)		Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTGCTTAAATGCTGCTGCTGA	0.468													False	0	True	3:169890386	0	A	169890386	G	A	169890386	3	1	88	1	0	0	0	0	1	0	0	0	11887	1319	46	2	2744	2	PHC3	3	169890386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43517	169890386	28132044	4664	12376											
PRKCI	5584	broad.mit.edu	37	chr3	169988246	169988246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcacagaccgaatatgggGacttggacgccaaggatata	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169988246G>A	ENST00000295797.4	+	6	793	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	163	Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CGAATATGGGGACTTGGACGC	0.418													False	0	True	3:169988246	0	A	169988246	G	A	169988246	3	1	88	1	0	0	0	0	1	0	0	0	12590	1174	41	2	510	2	PRKCI	3	169988246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97860	169988246	28034184	4665	12377											
PRKCI	5584	broad.mit.edu	37	chr3	170002313	170002313	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcgagggataatttatagaGatttgaaactggacaatgta	11	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170002313G>A	ENST00000295797.4	+	12	1437	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	378	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AATTTATAGAGATTTGAAACT	0.308													False	0	False	3:170002313	0	A	170002313	G	A	170002313	3	1	88	1	0	0	0	0	1	0	0	0	12590	942	33	2	1178	2	PRKCI	3	170002313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14067	170002313	28020117	4666	12378											
PRKCI	5584	broad.mit.edu	37	chr3	170009678	170009678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatacaaccagcactttcTgtggtactcctaattacatt	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170009678T>C	ENST00000295797.4	+	13	1545	c.1240T>C	c.(1240-1242)Tgt>Cgt	p.C414R		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	414	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAGCACTTTCTGTGGTACTCC	0.333													False	0	False	3:170009678	0	C	170009678	T	C	170009678	3	2	88	1	0	0	0	0	1	0	0	0	12590	1580	55	4	1290	4	PRKCI	3	170009678	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7365	170009678	28012752	4667	12379											
SKIL	6498	broad.mit.edu	37	chr3	170108126	170108126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctgccgcttcatctccGcttcttgtgaaagatgtcat	9	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170108126G>A	ENST00000458537.3	+	4	2254	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	SKIL_ENST00000413427.2_Silent_p.P469P|SKIL_ENST00000259119.4_Silent_p.P515P|SKIL_ENST00000426052.2_Silent_p.P495P	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	515					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTTCATCTCCGCTTCTTGTGA	0.363													False	0	False	3:170108126	0	A	170108126	G	A	170108126	2	1	88	1	0	0	0	0	0	0	0	1	14439	1074	38	1		1	SKIL	3	170108126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98448	170108126	27914304	4668	12380											
RPL22L1	200916	broad.mit.edu	37	chr3	170585924	170585924	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcccgtagaaattgctcCtattttaaaacagaaaaaat	4	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170585924C>A	ENST00000295830.8	-	3	418		c.e3-1		RPL22L1_ENST00000463836.1_Splice_Site	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1						translation	ribosome	structural constituent of ribosome			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GAAATTGCTCCTATTTTAAAA	0.358													False	0	False	3:170585924	0	A	170585924	C	A	170585924	5	1	88	1	0	0	0	0	0	0	1	0	13648	695	24	3	274	3	RPL22L1	3	170585924	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	477798	170585924	27436506	4669	12381											
TNIK	23043	broad.mit.edu	37	chr3	170857333	170857333	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcctcctctaactgtcGcctgatgtattcctggagag	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170857333G>A	ENST00000436636.2	-	14	1689	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	TNIK_ENST00000369326.5_Intron|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000470834.1_Intron|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R449*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R449*|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R449*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	449	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCTAACTGTCGCCTGATGTAT	0.468													False	0	False	3:170857333	0	A	170857333	G	A	170857333	4	1	88	1	0	0	0	0	0	1	0	0	16395	1095	38	1	2817	1	TNIK	3	170857333	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	271409	170857333	27165097	4670	12382											
TNIK	23043	broad.mit.edu	37	chr3	170858289	170858289	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccgcagctccttctctcGcctttgttgctgtggggcaa	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170858289G>A	ENST00000436636.2	-	13	1575	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	TNIK_ENST00000369326.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.R411*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R411*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R411*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.R411*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R411*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	411	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTTCTCTCGCCTTTGTTGC	0.622													False	0	True	3:170858289	0	A	170858289	G	A	170858289	4	1	88	1	0	0	0	0	0	1	0	0	16395	1095	38	1	2935	1	TNIK	3	170858289	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	956	170858289	27164141	4671	12383											
TNIK	23043	broad.mit.edu	37	chr3	170928948	170928948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggttctttttgataaaaGcaccatagtatgtagcaata	9	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170928948G>T	ENST00000436636.2	-	4	607	c.263C>A	c.(262-264)gCt>gAt	p.A88D	TNIK_ENST00000369326.5_Missense_Mutation_p.A88D|TNIK_ENST00000538048.1_Missense_Mutation_p.A88D|TNIK_ENST00000341852.6_Missense_Mutation_p.A88D|TNIK_ENST00000470834.1_Missense_Mutation_p.A88D|TNIK_ENST00000284483.8_Missense_Mutation_p.A88D|TNIK_ENST00000488470.1_Missense_Mutation_p.A88D|TNIK_ENST00000357327.5_Missense_Mutation_p.A88D|TNIK_ENST00000475336.1_Missense_Mutation_p.A88D|TNIK_ENST00000460047.1_Missense_Mutation_p.A88D	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	88	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTGATAAAAGCACCATAGTA	0.353													False	0	True	3:170928948	0	T	170928948	G	T	170928948	3	4	88	1	0	0	0	0	1	0	0	0	16395	971	34	3	3939	3	TNIK	3	170928948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70659	170928948	27093482	4672	12384											
NCEH1	57552	broad.mit.edu	37	chr3	172351691	172351691	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgaagtgtgattgttaacGatcattgcctgcacaaagtc	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172351691G>A	ENST00000475381.1	-	5	1034	c.801C>T	c.(799-801)atC>atT	p.I267I	NCEH1_ENST00000273512.3_Silent_p.I299I|NCEH1_ENST00000543711.1_Silent_p.I134I|NCEH1_ENST00000538775.1_Silent_p.I307I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	267					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GATTGTTAACGATCATTGCCT	0.478													False	0	False	3:172351691	0	A	172351691	G	A	172351691	2	1	88	1	0	0	0	0	0	0	0	1	10283	1048	37	1		1	NCEH1	3	172351691	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1422743	172351691	25670739	4673	12385											
NCEH1	57552	broad.mit.edu	37	chr3	172365723	172365723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggatataaacgacgctgCgtttcagtggctcttcgggc	13	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172365723C>T	ENST00000475381.1	-	2	553	c.320G>A	c.(319-321)cGc>cAc	p.R107H	NCEH1_ENST00000273512.3_Missense_Mutation_p.R139H|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.R139H			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	107					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AACGACGCTGCGTTTCAGTGG	0.562													False	0	False	3:172365723	0	T	172365723	C	T	172365723	3	4	88	1	0	0	0	0	1	0	0	0	10283	768	27	1	946	1	NCEH1	3	172365723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14032	172365723	25656707	4674	12386											
NCEH1	57552	broad.mit.edu	37	chr3	172365759	172365759	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcttcggagggccttcaAacactctgacttccacacca	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172365759A>C	ENST00000475381.1	-	2	517	c.284T>G	c.(283-285)tTt>tGt	p.F95C	NCEH1_ENST00000273512.3_Missense_Mutation_p.F127C|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.F127C			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	95					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGGGCCTTCAAACACTCTGAC	0.517													False	0	True	3:172365759	0	C	172365759	A	C	172365759	3	2	88	1	0	0	0	0	1	0	0	0	10283	14	1	4	982	4	NCEH1	3	172365759	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36	172365759	25656671	4675	12387											
ECT2	1894	broad.mit.edu	37	chr3	172504322	172504322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaaaatccagacaaaaGcactttagaaaaagctattg	7	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172504322G>A	ENST00000417960.1	+	18	2246	c.1769G>A	c.(1768-1770)aGc>aAc	p.S590N	ECT2_ENST00000540509.1_Missense_Mutation_p.S622N|ECT2_ENST00000441497.2_Missense_Mutation_p.S591N|ECT2_ENST00000392692.3_Missense_Mutation_p.S622N|ECT2_ENST00000427830.1_Missense_Mutation_p.S591N|ECT2_ENST00000232458.5_Missense_Mutation_p.S591N	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	591	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCAGACAAAAGCACTTTAGAA	0.308													False	0	True	3:172504322	0	A	172504322	G	A	172504322	3	1	88	1	0	0	0	0	1	0	0	0	4931	971	34	2	1834	2	ECT2	3	172504322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138563	172504322	25518108	4676	12388											
ECT2	1894	broad.mit.edu	37	chr3	172523587	172523587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccaaacccgacccccaGcttctcttaagcatattcac	5	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172523587G>A	ENST00000417960.1	+	21	2554	c.2077G>A	c.(2077-2079)Gct>Act	p.A693T	ECT2_ENST00000540509.1_Missense_Mutation_p.A725T|ECT2_ENST00000441497.2_Missense_Mutation_p.A694T|ECT2_ENST00000392692.3_Missense_Mutation_p.A725T|ECT2_ENST00000427830.1_Missense_Mutation_p.A694T|ECT2_ENST00000232458.5_Missense_Mutation_p.A694T	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	694	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCGACCCCCAGCTTCTCTTAA	0.403													False	0	False	3:172523587	0	A	172523587	G	A	172523587	3	1	88	1	0	0	0	0	1	0	0	0	4931	971	34	2	2154	2	ECT2	3	172523587	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19265	172523587	25498843	4677	12389											
NLGN1	22871	broad.mit.edu	37	chr3	173996663	173996663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccataggactttttcaacGagcaatagctcaaagtggaa	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173996663G>A	ENST00000457714.1	+	6	1301	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.R331Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R291Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R291Q|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	308					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTTTTTCAACGAGCAATAGCT	0.358													False	0	False	3:173996663	0	A	173996663	G	A	173996663	3	1	88	1	0	0	0	0	1	0	0	0	10529	1058	37	1	886	1	NLGN1	3	173996663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1473076	173996663	24025767	4678	12390											
NLGN1	22871	broad.mit.edu	37	chr3	173996999	173996999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatatagtagatagcgAtgatggtatatcagctagtg	11	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173996999A>G	ENST00000457714.1	+	6	1637	c.1208A>G	c.(1207-1209)gAt>gGt	p.D403G	NLGN1_ENST00000401917.3_Missense_Mutation_p.D443G|NLGN1_ENST00000361589.4_Missense_Mutation_p.D403G|NLGN1_ENST00000545397.1_Missense_Mutation_p.D403G|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	420					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTAGATAGCGATGATGGTATA	0.333													False	0	False	3:173996999	0	G	173996999	A	G	173996999	3	3	88	1	0	0	0	0	1	0	0	0	10529	333	12	4	1222	4	NLGN1	3	173996999	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	336	173996999	24025431	4679	12391											
NLGN1	22871	broad.mit.edu	37	chr3	173997160	173997160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaccagaagaaagacattaCtggctttgtttacggaccat	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173997160C>A	ENST00000457714.1	+	6	1798	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	NLGN1_ENST00000401917.3_Missense_Mutation_p.L497M|NLGN1_ENST00000361589.4_Missense_Mutation_p.L457M|NLGN1_ENST00000545397.1_Missense_Mutation_p.L457M	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	474					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAAGACATTACTGGCTTTGTT	0.448													False	0	False	3:173997160	0	A	173997160	C	A	173997160	3	1	88	1	0	0	0	0	1	0	0	0	10529	564	20	3	1383	3	NLGN1	3	173997160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161	173997160	24025270	4680	12392											
NLGN1	22871	broad.mit.edu	37	chr3	173998885	173998885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacatgaggtggttcttcGgaccgcctgtcccccagatt	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173998885G>A	ENST00000457714.1	+	7	2693	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.R795Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R755Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R755Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	772					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.R755Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTGGTTCTTCGGACCGCCTGT	0.458													False	0	False	3:173998885	0	A	173998885	G	A	173998885	3	1	88	1	0	0	0	0	1	0	0	0	10529	1116	39	1	2282	1	NLGN1	3	173998885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1725	173998885	24023545	4681	12393											
NAALADL2	254827	broad.mit.edu	37	chr3	174814871	174814871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacattacccattatacacGatctgcaccaaagagcaatc	4	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:174814871G>A	ENST00000454872.1	+	2	463	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	112					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CATTATACACGATCTGCACCA	0.378													False	0	False	3:174814871	0	A	174814871	G	A	174814871	3	1	88	1	0	0	0	0	1	0	0	0	10197	1058	37	1	341	1	NAALADL2	3	174814871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	815986	174814871	23207559	4682	12394											
NAALADL2	254827	broad.mit.edu	37	chr3	175165072	175165072	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctctattagtgcagcccatCtctgcacccctcgttgcaaa	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:175165072C>A	ENST00000454872.1	+	6	1274	c.1146C>A	c.(1144-1146)atC>atA	p.I382I	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	382					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGCAGCCCATCTCTGCACCCC	0.388													False	0	False	3:175165072	0	A	175165072	C	A	175165072	2	1	88	1	0	0	0	0	0	0	0	1	10197	903	32	3		3	NAALADL2	3	175165072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	350201	175165072	22857358	4683	12395											
ZMAT3	64393	broad.mit.edu	37	chr3	178748762	178748762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatttgctgcatagtaatttCggagtttcttaccatgattt	7	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178748762C>T	ENST00000311417.2	-	3	1037	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	ZMAT3_ENST00000432729.1_Missense_Mutation_p.R99Q	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	99					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ATAGTAATTTCGGAGTTTCTT	0.438													False	0	True	3:178748762	0	T	178748762	C	T	178748762	3	4	88	1	0	0	0	0	1	0	0	0	17776	884	31	1	589	1	ZMAT3	3	178748762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3583690	178748762	19273668	4684	12396											
ZMAT3	64393	broad.mit.edu	37	chr3	178785445	178785445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaggcttctgtggtggaagCtgcaaggttcctgtagacct	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178785445C>A	ENST00000311417.2	-	2	837	c.96G>T	c.(94-96)caG>caT	p.Q32H	ZMAT3_ENST00000432729.1_Missense_Mutation_p.Q32H	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	32					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GTGGTGGAAGCTGCAAGGTTC	0.582													False	0	False	3:178785445	0	A	178785445	C	A	178785445	3	1	88	1	0	0	0	0	1	0	0	0	17776	796	28	3	793	3	ZMAT3	3	178785445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36683	178785445	19236985	4685	12397											
ZMAT3	64393	broad.mit.edu	37	chr3	178785487	178785487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccactgacataggaggCgagggtgagggctgcttagg	19	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178785487C>T	ENST00000311417.2	-	2	795	c.54G>A	c.(52-54)tcG>tcA	p.S18S	ZMAT3_ENST00000432729.1_Silent_p.S18S	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	18					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	p.S18S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ACATAGGAGGCGAGGGTGAGG	0.572													False	0	False	3:178785487	0	T	178785487	C	T	178785487	2	4	88	1	0	0	0	0	0	0	0	1	17776	755	27	1		1	ZMAT3	3	178785487	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	178785487	19236943	4686	12398											
ZNF639	51193	broad.mit.edu	37	chr3	179051598	179051598	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagcacattgcagacacCcattttagtgatcacctcta	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179051598C>T	ENST00000326361.3	+	7	1291	c.846C>T	c.(844-846)acC>acT	p.T282T	ZNF639_ENST00000484866.1_Silent_p.T282T|ZNF639_ENST00000496856.1_Silent_p.T282T	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	282					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTGCAGACACCCATTTTAGTG	0.418													False	0	True	3:179051598	0	T	179051598	C	T	179051598	2	4	88	1	0	0	0	0	0	0	0	1	18139	610	22	2		2	ZNF639	3	179051598	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266111	179051598	18970832	4687	12399											
MFN1	55669	broad.mit.edu	37	chr3	179069810	179069810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggagacacatgaaggtgGcattttttggcaggtaatta	12	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179069810G>A	ENST00000471841.1	+	3	361	c.235G>A	c.(235-237)Gca>Aca	p.A79T	MFN1_ENST00000280653.7_Missense_Mutation_p.A79T|MFN1_ENST00000263969.5_Missense_Mutation_p.A79T	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	79					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CATGAAGGTGGCATTTTTTGG	0.378													False	0	False	3:179069810	0	A	179069810	G	A	179069810	3	1	88	1	0	0	0	0	1	0	0	0	9590	1203	42	2	241	2	MFN1	3	179069810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18212	179069810	18952620	4688	12400											
MFN1	55669	broad.mit.edu	37	chr3	179076722	179076722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccaattgcttcctaagtGttgaaggaactgatggagat	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179076722G>A	ENST00000471841.1	+	4	469	c.343G>A	c.(343-345)Gtt>Att	p.V115I	MFN1_ENST00000280653.7_Missense_Mutation_p.V115I|MFN1_ENST00000263969.5_Missense_Mutation_p.V115I	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	115					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTCCTAAGTGTTGAAGGAAC	0.388													False	0	False	3:179076722	0	A	179076722	G	A	179076722	3	1	88	1	0	0	0	0	1	0	0	0	9590	1377	48	2	353	2	MFN1	3	179076722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6912	179076722	18945708	4689	12401											
MFN1	55669	broad.mit.edu	37	chr3	179076766	179076766	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctatcttatgacagaaggAtcagatgaaaaaaagagtgt	10	5	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179076766A>G	ENST00000471841.1	+	4	513	c.387A>G	c.(385-387)ggA>ggG	p.G129G	MFN1_ENST00000280653.7_Silent_p.G129G|MFN1_ENST00000263969.5_Silent_p.G129G	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	129					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGACAGAAGGATCAGATGAAA	0.343													False	0	False	3:179076766	0	G	179076766	A	G	179076766	2	3	88	1	0	0	0	0	0	0	0	1	9590	320	12	4		4	MFN1	3	179076766	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44	179076766	18945664	4690	12402											
GNB4	59345	broad.mit.edu	37	chr3	179123034	179123034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattaaagtcatcgtaaccaGccaacaagagacgcccactt	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179123034G>A	ENST00000232564.3	-	9	1146	c.860C>T	c.(859-861)gCt>gTt	p.A287V	GNB4_ENST00000468623.1_Missense_Mutation_p.A287V	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	287					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ATCGTAACCAGCCAACAAGAG	0.403													False	0	False	3:179123034	0	A	179123034	G	A	179123034	3	1	88	1	0	0	0	0	1	0	0	0	6565	971	34	2	170	2	GNB4	3	179123034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46268	179123034	18899396	4691	12403											
MRPL47	57129	broad.mit.edu	37	chr3	179316509	179316509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcaatctctgccgcttgGcctcctgctctagggttaga	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179316509G>A	ENST00000476781.1	-	4	385	c.356C>T	c.(355-357)gCc>gTc	p.A119V	MRPL47_ENST00000259038.2_Missense_Mutation_p.A99V|MRPL47_ENST00000392659.2_Missense_Mutation_p.A9V	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	119					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CTGCCGCTTGGCCTCCTGCTC	0.428													False	0	False	3:179316509	0	A	179316509	G	A	179316509	3	1	88	1	0	0	0	0	1	0	0	0	9878	1203	42	2	412	2	MRPL47	3	179316509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193475	179316509	18705921	4692	12404											
MRPL47	57129	broad.mit.edu	37	chr3	179320442	179320442	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaatccaagtatctcaccaGattttactttttcttgcccc	3	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179320442G>T	ENST00000476781.1	-	2	271	c.242C>A	c.(241-243)tCt>tAt	p.S81Y	MRPL47_ENST00000259038.2_Missense_Mutation_p.S61Y|MRPL47_ENST00000392659.2_Intron	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	81					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TATCTCACCAGATTTTACTTT	0.398													False	0	False	3:179320442	0	T	179320442	G	T	179320442	3	4	88	1	0	0	0	0	1	0	0	0	9878	942	33	3	534	3	MRPL47	3	179320442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3933	179320442	18701988	4693	12405											
NDUFB5	4711	broad.mit.edu	37	chr3	179336307	179336307	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgaaaaggctgaattAcggtaggaaaaacgaggggg	16	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179336307A>G	ENST00000493866.1	+	3	316	c.291A>G	c.(289-291)ttA>ttG	p.L97L	NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Silent_p.L137L|NDUFB5_ENST00000259037.3_Silent_p.L149L	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	149					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	AGGCTGAATTACGGTAGGAAA	0.378													False	0	False	3:179336307	0	G	179336307	A	G	179336307	2	3	88	1	0	0	0	0	0	0	0	1	10352	388	14	4		4	NDUFB5	3	179336307	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15865	179336307	18686123	4694	12406											
USP13	8975	broad.mit.edu	37	chr3	179481862	179481862	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcctctgtttttggtgcttCtggactggataaccaacctc	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179481862C>A	ENST00000263966.3	+	18	2636	c.2165C>A	c.(2164-2166)tCt>tAt	p.S722Y	USP13_ENST00000496897.1_Missense_Mutation_p.S657Y	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	722					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTGGTGCTTCTGGACTGGAT	0.502													False	0	True	3:179481862	0	A	179481862	C	A	179481862	3	1	88	1	0	0	0	0	1	0	0	0	17128	913	32	3	2235	3	USP13	3	179481862	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145555	179481862	18540568	4695	12407											
USP13	8975	broad.mit.edu	37	chr3	179499528	179499528	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtttcctctttcacagcAtatgagctatttgcattcat	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179499528A>G	ENST00000263966.3	+	20	2886	c.2415A>G	c.(2413-2415)acA>acG	p.T805T	USP13_ENST00000496897.1_Splice_Site_p.T740T	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	805					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CTTTCACAGCATATGAGCTAT	0.378													False	0	False	3:179499528	0	G	179499528	A	G	179499528	5	3	88	1	0	0	0	0	0	0	1	0	17128	231	8	4	2493	4	USP13	3	179499528	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17666	179499528	18522902	4696	12408											
PEX5L	51555	broad.mit.edu	37	chr3	179525504	179525504	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcttattcctaggttgtatCtggaccggatgaatcctggc	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179525504C>A	ENST00000467460.1	-	14	1964	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I	PEX5L_ENST00000464614.1_Missense_Mutation_p.R437I|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000476138.1_Missense_Mutation_p.R502I|PEX5L_ENST00000468741.1_Missense_Mutation_p.R353I|PEX5L_ENST00000485199.1_Missense_Mutation_p.R510I|PEX5L_ENST00000465751.1_Missense_Mutation_p.R521I|PEX5L_ENST00000472994.1_Missense_Mutation_p.R486I|PEX5L_ENST00000263962.8_Missense_Mutation_p.R543I|PEX5L_ENST00000392649.3_Missense_Mutation_p.R437I	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	545					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TAGGTTGTATCTGGACCGGAT	0.577													False	0	False	3:179525504	0	A	179525504	C	A	179525504	3	1	88	1	0	0	0	0	1	0	0	0	11818	913	32	3	254	3	PEX5L	3	179525504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25976	179525504	18496926	4697	12409											
PEX5L	51555	broad.mit.edu	37	chr3	179576866	179576866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacctccactgctgcttttGccctttcaaactcttcttct	3	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179576866G>A	ENST00000467460.1	-	8	1136	c.806C>T	c.(805-807)gCa>gTa	p.A269V	PEX5L_ENST00000464614.1_Missense_Mutation_p.A161V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A226V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A77V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A234V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A245V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A210V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A267V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.A161V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	269					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCTGCTTTTGCCCTTTCAAA	0.393													False	0	True	3:179576866	0	A	179576866	G	A	179576866	3	1	88	1	0	0	0	0	1	0	0	0	11818	1319	46	2	1106	2	PEX5L	3	179576866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51362	179576866	18445564	4698	12410											
PEX5L	51555	broad.mit.edu	37	chr3	179592146	179592146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactaattccaattctgaaGccgactcagagttgagggcg	10	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179592146G>A	ENST00000467460.1	-	7	1025	c.695C>T	c.(694-696)gCt>gTt	p.A232V	PEX5L_ENST00000464614.1_Missense_Mutation_p.A124V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A208V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A173V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	232					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAATTCTGAAGCCGACTCAGA	0.393													False	0	False	3:179592146	0	A	179592146	G	A	179592146	3	1	88	1	0	0	0	0	1	0	0	0	11818	971	34	2	1221	2	PEX5L	3	179592146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15280	179592146	18430284	4699	12411											
TTC14	151613	broad.mit.edu	37	chr3	180327721	180327721	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gataggttacagtatgaaaaGacacagataaaagagaaaga	10	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180327721G>T	ENST00000296015.4	+	12	1836	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	TTC14_ENST00000382584.4_Missense_Mutation_p.K568N|TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	568							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTATGAAAAGACACAGATAA	0.388													False	0	True	3:180327721	0	T	180327721	G	T	180327721	3	4	88	1	0	0	0	0	1	0	0	0	16765	933	33	3	1780	3	TTC14	3	180327721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	735575	180327721	17694709	4700	12412											
CCDC39	339829	broad.mit.edu	37	chr3	180397253	180397253	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcgtcaagcccaggcaCctgcacagtgccgcggcaat	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180397253C>T	ENST00000442201.2	-	0	35				CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGCCCAGGCACCTGCACAGTG	0.582													False	0	False	3:180397253	0	T	180397253	C	T	180397253	1	4	88	1	0	0	0	0	0	0	0	0	2832	522	18	2		2	CCDC39	3	180397253	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69532	180397253	17625177	4701	12413											
FXR1	0	broad.mit.edu	37	chr3	180666195	180666195	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaatagtcacatttgaaCgacttcggcctgtcaatcaa	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180666195C>T	ENST00000357559.4	+	5	715	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FXR1_ENST00000468861.1_Nonsense_Mutation_p.R26*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R26*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R111*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R62*|FXR1_ENST00000480918.1_Nonsense_Mutation_p.R98*	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	111					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CACATTTGAACGACTTCGGCC	0.338													False	0	False	3:180666195	0	T	180666195	C	T	180666195	4	4	88	1	0	0	0	0	0	1	0	0	6157	528	19	1	349	1	FXR1	3	180666195	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	268942	180666195	17356235	4702	12414											
DNAJC19	131118	broad.mit.edu	37	chr3	180706014	180706014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaactgctaccactgtacTggcctggtaagggggagaag	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180706014T>C	ENST00000382564.2	-	2	177	c.7A>G	c.(7-9)Agt>Ggt	p.S3G	DNAJC19_ENST00000486355.1_Missense_Mutation_p.S3G|DNAJC19_ENST00000479269.1_5'UTR|DNAJC19_ENST00000491873.1_Intron	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	3					genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding			large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			ACCACTGTACTGGCCTGGTAA	0.448													False	0	False	3:180706014	0	C	180706014	T	C	180706014	3	2	88	1	0	0	0	0	1	0	0	0	4668	1580	55	4	363	4	DNAJC19	3	180706014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39819	180706014	17316416	4703	12415											
SOX2	6657	broad.mit.edu	37	chr3	181430930	181430930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttacctcttcctcccactCcagggcgccctgccaggccg	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:181430930C>T	ENST00000325404.1	+	1	1209	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SOX2_ENST00000431565.2_Missense_Mutation_p.S261F	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	261					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TCCTCCCACTCCAGGGCGCCC	0.682			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						False	0	False	3:181430930	0	T	181430930	C	T	181430930	3	4	88	1	0	0	0	0	1	0	0	0	15029	855	30	2	784	2	SOX2	3	181430930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	724916	181430930	16591500	4704	12416											
ATP11B	23200	broad.mit.edu	37	chr3	182615133	182615133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacttggatcaaccatctcGttacctggggatctattata	9	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182615133G>A	ENST00000323116.5	+	27	3351	c.3091G>A	c.(3091-3093)Gtt>Att	p.V1031I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1031					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CAACCATCTCGTTACCTGGGG	0.303													False	0	False	3:182615133	0	A	182615133	G	A	182615133	3	1	88	1	0	0	0	0	1	0	0	0	1124	1145	40	1	3197	1	ATP11B	3	182615133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1184203	182615133	15407297	4705	12417											
MCCC1	56922	broad.mit.edu	37	chr3	182755097	182755097	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagactctttggctgcagcCttccgactgagcaacaactg	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182755097C>A	ENST00000492597.1	-	12	1878	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	MCCC1_ENST00000265594.4_Missense_Mutation_p.K501N|MCCC1_ENST00000539926.1_Missense_Mutation_p.K366N|MCCC1_ENST00000489909.1_5'UTR			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	501	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TGGCTGCAGCCTTCCGACTGA	0.512													False	0	False	3:182755097	0	A	182755097	C	A	182755097	3	1	88	1	0	0	0	0	1	0	0	0	9441	680	24	3	702	3	MCCC1	3	182755097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139964	182755097	15267333	4706	12418											
MCCC1	56922	broad.mit.edu	37	chr3	182810240	182810240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagcctcactataaaccGccacagtctgtacacccagt	6	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182810240G>A	ENST00000265594.4	-	3	376	c.230C>T	c.(229-231)gCg>gTg	p.A77V	MCCC1_ENST00000492597.1_Intron|MCCC1_ENST00000539926.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	77	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ACTATAAACCGCCACAGTCTG	0.423													False	0	False	3:182810240	0	A	182810240	G	A	182810240	3	1	88	1	0	0	0	0	1	0	0	0	9441	1087	38	1	2015	1	MCCC1	3	182810240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55143	182810240	15212190	4707	12419											
KLHL6	89857	broad.mit.edu	37	chr3	183209999	183209999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgggctgtaggcgtacaGcgctctcatggccccacctg	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183209999G>A	ENST00000341319.3	-	7	1617	c.1582C>T	c.(1582-1584)Ctg>Ttg	p.L528L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	528										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TAGGCGTACAGCGCTCTCATG	0.582													False	0	False	3:183209999	0	A	183209999	G	A	183209999	2	1	88	1	0	0	0	0	0	0	0	1	8443	962	34	2		2	KLHL6	3	183209999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	399759	183209999	14812431	4708	12420											
KLHL6	89857	broad.mit.edu	37	chr3	183210391	183210391	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagggtcataacactgagtCttgtctgtggccagtttccc	11	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183210391C>A	ENST00000341319.3	-	6	1490	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	485										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AACACTGAGTCTTGTCTGTGG	0.542													False	0	False	3:183210391	0	A	183210391	C	A	183210391	3	1	88	1	0	0	0	0	1	0	0	0	8443	912	32	3	418	3	KLHL6	3	183210391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	392	183210391	14812039	4709	12421											
KLHL6	89857	broad.mit.edu	37	chr3	183225986	183225986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaagcgcacgttctcgaggAcataggggagtaagcagagt	15	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183225986A>G	ENST00000341319.3	-	3	805	c.770T>C	c.(769-771)gTc>gCc	p.V257A		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	257	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTCTCGAGGACATAGGGGAG	0.572													False	0	False	3:183225986	0	G	183225986	A	G	183225986	3	3	88	1	0	0	0	0	1	0	0	0	8443	275	10	4	1115	4	KLHL6	3	183225986	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15595	183225986	14796444	4710	12422											
KLHL24	54800	broad.mit.edu	37	chr3	183390145	183390145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctatcccaattgccaAaaggtgtataacagctgtat	8	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183390145A>G	ENST00000454652.2	+	8	1861	c.1475A>G	c.(1474-1476)aAa>aGa	p.K492R	KLHL24_ENST00000242810.6_Missense_Mutation_p.K492R|KLHL24_ENST00000476808.1_Missense_Mutation_p.K492R	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24							axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CCAATTGCCAAAAGGTGTATA	0.363													False	0	True	3:183390145	0	G	183390145	A	G	183390145	3	3	88	1	0	0	0	0	1	0	0	0	8429	14	1	4	1493	4	KLHL24	3	183390145	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	164159	183390145	14632285	4711	12423											
YEATS2	55689	broad.mit.edu	37	chr3	183476677	183476677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaaacaagatctccacggCttctcaggtctcccaaggaa	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183476677C>T	ENST00000305135.5	+	13	1775	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	527					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATCTCCACGGCTTCTCAGGTC	0.363													False	0	False	3:183476677	0	T	183476677	C	T	183476677	3	4	88	1	0	0	0	0	1	0	0	0	17556	797	28	2	1626	2	YEATS2	3	183476677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86532	183476677	14545753	4712	12424											
YEATS2	55689	broad.mit.edu	37	chr3	183503951	183503951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctctaatgaaaatatcCgatagcaccttgaagactgt	7	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183503951C>T	ENST00000305135.5	+	20	2970	c.2775C>T	c.(2773-2775)tcC>tcT	p.S925S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	925					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAAAATATCCGATAGCACCT	0.488													False	0	False	3:183503951	0	T	183503951	C	T	183503951	2	4	88	1	0	0	0	0	0	0	0	1	17556	639	23	1		1	YEATS2	3	183503951	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27274	183503951	14518479	4713	12425											
ABCC5	10057	broad.mit.edu	37	chr3	183689433	183689433	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttgccttcttcctctTcgggactgggccgctcgtca	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183689433T>A	ENST00000334444.6	-	11	1919	c.1679A>T	c.(1678-1680)gAa>gTa	p.E560V	ABCC5_ENST00000265586.6_Missense_Mutation_p.E560V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	560						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCTTCCTCTTCGGGACTGGG	0.607													False	0	False	3:183689433	0	A	183689433	T	A	183689433	3	1	88	1	0	0	0	0	1	0	0	0	56	1783	62	5	2714	5	ABCC5	3	183689433	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	185482	183689433	14332997	4714	12426											
ABCC5	10057	broad.mit.edu	37	chr3	183700361	183700361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagccagcaggctgccaaCggctgctgcctcaaacattc	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183700361C>T	ENST00000334444.6	-	7	1117	c.877G>A	c.(877-879)Gtt>Att	p.V293I	ABCC5_ENST00000265586.6_Missense_Mutation_p.V293I|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	293	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGCTGCCAACGGCTGCTGCC	0.488													False	0	False	3:183700361	0	T	183700361	C	T	183700361	3	4	88	1	0	0	0	0	1	0	0	0	56	536	19	1	3532	1	ABCC5	3	183700361	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10928	183700361	14322069	4715	12427											
HTR3D	200909	broad.mit.edu	37	chr3	183755893	183755893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgattgccatcgatgccCtcagtttctacctgccactg	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183755893C>A	ENST00000382489.3	+	6	745	c.745C>A	c.(745-747)Ctc>Atc	p.L249I	HTR3D_ENST00000428798.2_Missense_Mutation_p.L201I|HTR3D_ENST00000453435.1_Missense_Mutation_p.L30I|HTR3D_ENST00000334128.2_Missense_Mutation_p.L76I	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	249						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATCGATGCCCTCAGTTTCTA	0.552													False	0	True	3:183755893	0	A	183755893	C	A	183755893	3	1	88	1	0	0	0	0	1	0	0	0	7497	681	24	3	903	3	HTR3D	3	183755893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55532	183755893	14266537	4716	12428											
HTR3D	200909	broad.mit.edu	37	chr3	183756362	183756362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagatgctgtcccactgCgccccagaagggaaataagg	14	10	0	2	rs142947621		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183756362C>T	ENST00000382489.3	+	7	1085	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	HTR3D_ENST00000428798.2_Missense_Mutation_p.A312V|HTR3D_ENST00000453435.1_Missense_Mutation_p.A141V|HTR3D_ENST00000334128.2_Missense_Mutation_p.A187V	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	362						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGTCCCACTGCGCCCCAGAAG	0.657													False	0	False	3:183756362	0	T	183756362	C	T	183756362	3	4	88	1	0	0	0	0	1	0	0	0	7497	768	27	1	1281	1	HTR3D	3	183756362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	469	183756362	14266068	4717	12429											
HTR3C	170572	broad.mit.edu	37	chr3	183777407	183777407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaatgacttgctccctGccagtggcacccccctcatc	8	16	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183777407G>A	ENST00000318351.1	+	7	938	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	302						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTTGCTCCCTGCCAGTGGCAC	0.587													False	0	False	3:183777407	0	A	183777407	G	A	183777407	3	1	88	1	0	0	0	0	1	0	0	0	7496	1319	46	2	930	2	HTR3C	3	183777407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21045	183777407	14245023	4718	12430											
HTR3C	170572	broad.mit.edu	37	chr3	183777674	183777674	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcctgctggagaccgtcttCattacctacctgctgcacgt	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183777674C>T	ENST00000318351.1	+	8	1018	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	328						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGACCGTCTTCATTACCTACC	0.572													False	0	False	3:183777674	0	T	183777674	C	T	183777674	2	4	88	1	0	0	0	0	0	0	0	1	7496	825	29	2		2	HTR3C	3	183777674	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267	183777674	14244756	4719	12431											
HTR3E	285242	broad.mit.edu	37	chr3	183822576	183822576	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgttatctctcctccagcAtggatgtggataagacccca	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183822576A>G	ENST00000415389.2	+	5	857	c.391A>G	c.(391-393)Atg>Gtg	p.M131V	HTR3E_ENST00000436361.2_Splice_Site_p.M131V|HTR3E_ENST00000335304.2_Splice_Site_p.M146V|HTR3E_ENST00000425359.2_Splice_Site_p.M116V|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000440596.2_Splice_Site_p.M157V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	131						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTCCTCCAGCATGGATGTGGA	0.438													False	0	False	3:183822576	0	G	183822576	A	G	183822576	5	3	88	1	0	0	0	0	0	0	1	0	7498	231	8	4	450	4	HTR3E	3	183822576	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44902	183822576	14199854	4720	12432											
EIF2B5	8893	broad.mit.edu	37	chr3	183860674	183860674	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagatggatgacatcaaaGgtgagtggcaggggagaaat	15	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183860674G>T	ENST00000273783.3	+	11	1776	c.1654G>T	c.(1654-1656)Gtg>Ttg	p.V552L	EIF2B5_ENST00000444495.1_Splice_Site_p.V552L	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	552	W2.				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGACATCAAAGGTGAGTGGCA	0.507													False	0	True	3:183860674	0	T	183860674	G	T	183860674	5	4	88	1	0	0	0	0	0	0	1	0	5034	1014	35	3	1696	3	EIF2B5	3	183860674	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38098	183860674	14161756	4721	12433											
DVL3	1857	broad.mit.edu	37	chr3	183873534	183873534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggactttaagggcgttttGcagcgacccagctataagtt	12	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183873534G>A	ENST00000313143.3	+	1	359	c.111G>A	c.(109-111)ttG>ttA	p.L37L	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000462665.1_3'UTR|DVL3_ENST00000431765.1_Silent_p.L37L	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	37	DIX.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGGGCGTTTTGCAGCGACCCA	0.622													False	0	True	3:183873534	0	A	183873534	G	A	183873534	2	1	88	1	0	0	0	0	0	0	0	1	4867	1310	46	2		2	DVL3	3	183873534	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12860	183873534	14148896	4722	12434											
AP2M1	1173	broad.mit.edu	37	chr3	183899752	183899752	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggtgatcccgctagtgCgagaagtgggacgcaccaaa	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183899752C>T	ENST00000382456.3	+	8	1188	c.874C>T	c.(874-876)Cga>Tga	p.R292*	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Nonsense_Mutation_p.R292*|AP2M1_ENST00000292807.5_Nonsense_Mutation_p.R294*|AP2M1_ENST00000411763.2_Nonsense_Mutation_p.R319*|AP2M1_ENST00000461733.1_3'UTR	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	294	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGCTAGTGCGAGAAGTGGG	0.542													False	0	False	3:183899752	0	T	183899752	C	T	183899752	4	4	88	1	0	0	0	0	0	1	0	0	744	760	27	1	907	1	AP2M1	3	183899752	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26218	183899752	14122678	4723	12435											
ABCF3	55324	broad.mit.edu	37	chr3	183911153	183911153	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggttctgccttccagCcccaacttctacattctgga	6	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183911153C>T	ENST00000429586.2	+	20	2069	c.1884C>T	c.(1882-1884)tgC>tgT	p.C628C	ABCF3_ENST00000292808.5_Splice_Site_p.C622C|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	628	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCCTTCCAGCCCCAACTTCT	0.522													False	0	True	3:183911153	0	T	183911153	C	T	183911153	5	4	88	1	0	0	0	0	0	0	1	0	67	753	26	2	1962	2	ABCF3	3	183911153	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11401	183911153	14111277	4724	12436											
ALG3	10195	broad.mit.edu	37	chr3	183962463	183962463	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggagaagaaacagtaAcccaggggcgaagagcagca	15	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183962463A>G	ENST00000455059.1	-	5	986	c.532T>C	c.(532-534)Tta>Cta	p.L178L	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Silent_p.L218L|ALG3_ENST00000418734.2_Silent_p.L162L|ALG3_ENST00000445626.2_Silent_p.L170L			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	218					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAAACAGTAACCCAGGGGCG	0.587													False	0	True	3:183962463	0	G	183962463	A	G	183962463	2	3	88	1	0	0	0	0	0	0	0	1	520	40	2	4		4	ALG3	3	183962463	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51310	183962463	14059967	4725	12437											
ECE2	9718	broad.mit.edu	37	chr3	183994316	183994316	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgggatgaagacgcacccgaGacccccgtagagggcggggc	17	13	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183994316G>T	ENST00000404464.3	+	2	225	c.87G>T	c.(85-87)gaG>gaT	p.E29D	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29D|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000402825.3_Intron	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	endothelin converting enzyme 2	0	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGCACCCGAGACCCCCGTAG	0.667													False	0	False	3:183994316	0	T	183994316	G	T	183994316	3	4	88	1	0	0	0	0	1	0	0	0	4920	933	33	3	873	3	ECE2	3	183994316	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31853	183994316	14028114	4726	12438											
EIF4G1	1981	broad.mit.edu	37	chr3	184039075	184039075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctatggtgcagatgacCggtcacagggagcaatcatt	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184039075C>T	ENST00000342981.4	+	9	1117	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	EIF4G1_ENST00000424196.1_Missense_Mutation_p.R242W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R71W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R195W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R71W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R235W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R148W|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R235W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R195W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R242W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R39W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R148W	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	235					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCAGATGACCGGTCACAGGG	0.557													False	0	False	3:184039075	0	T	184039075	C	T	184039075	3	4	88	1	0	0	0	0	1	0	0	0	5068	643	23	1	733	1	EIF4G1	3	184039075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44759	184039075	13983355	4727	12439											
EIF4G1	1981	broad.mit.edu	37	chr3	184039152	184039152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagaatcccagccttcGtcgccttctccgaccccatc	5	20	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184039152G>A	ENST00000342981.4	+	9	1194	c.780G>A	c.(778-780)tcG>tcA	p.S260S	EIF4G1_ENST00000424196.1_Silent_p.S267S|EIF4G1_ENST00000350481.5_Silent_p.S96S|EIF4G1_ENST00000352767.3_Silent_p.S267S|EIF4G1_ENST00000411531.1_Silent_p.S220S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Silent_p.S96S|EIF4G1_ENST00000435046.2_Silent_p.S64S|EIF4G1_ENST00000319274.6_Silent_p.S260S|EIF4G1_ENST00000427845.1_Silent_p.S173S|EIF4G1_ENST00000346169.2_Silent_p.S260S|EIF4G1_ENST00000414031.1_Silent_p.S220S|EIF4G1_ENST00000382330.3_Silent_p.S267S|EIF4G1_ENST00000434061.2_Silent_p.S64S|EIF4G1_ENST00000392537.2_Silent_p.S173S	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	260					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCAGCCTTCGTCGCCTTCTC	0.572													False	0	False	3:184039152	0	A	184039152	G	A	184039152	2	1	88	1	0	0	0	0	0	0	0	1	5068	1132	40	1		1	EIF4G1	3	184039152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77	184039152	13983278	4728	12440											
EIF4G1	1981	broad.mit.edu	37	chr3	184040619	184040619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccttgcagatcagtggaaGcctctaaacctagaggagaa	10	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184040619G>T	ENST00000342981.4	+	12	2220	c.1806G>T	c.(1804-1806)aaG>aaT	p.K602N	EIF4G1_ENST00000424196.1_Missense_Mutation_p.K609N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.K438N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000411531.1_Missense_Mutation_p.K562N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.K438N|EIF4G1_ENST00000435046.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000319274.6_Missense_Mutation_p.K602N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.K515N|EIF4G1_ENST00000346169.2_Missense_Mutation_p.K602N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.K562N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.K609N|EIF4G1_ENST00000434061.2_Missense_Mutation_p.K406N|EIF4G1_ENST00000392537.2_Missense_Mutation_p.K515N	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	602	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCAGTGGAAGCCTCTAAACC	0.448													False	0	False	3:184040619	0	T	184040619	G	T	184040619	3	4	88	1	0	0	0	0	1	0	0	0	5068	962	34	3	1848	3	EIF4G1	3	184040619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1467	184040619	13981811	4729	12441											
EIF4G1	1981	broad.mit.edu	37	chr3	184042077	184042077	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaggagtttgagaaagAcaaagatgatgatgaggttt	13	2	1	7			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184042077A>G	ENST00000342981.4	+	16	2978	c.2564A>G	c.(2563-2565)gAc>gGc	p.D855G	EIF4G1_ENST00000424196.1_Missense_Mutation_p.D861G|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D690G|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000411531.1_Missense_Mutation_p.D815G|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D691G|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D658G|EIF4G1_ENST00000319274.6_Missense_Mutation_p.D854G|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D768G|EIF4G1_ENST00000346169.2_Missense_Mutation_p.D854G|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D814G|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D861G|EIF4G1_ENST00000434061.2_Missense_Mutation_p.D659G|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D767G	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	854	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTGAGAAAGACAAAGATGAT	0.443													False	0	False	3:184042077	0	G	184042077	A	G	184042077	3	3	88	1	0	0	0	0	1	0	0	0	5068	275	10	4	2619	4	EIF4G1	3	184042077	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1458	184042077	13980353	4730	12442											
EIF4G1	1981	broad.mit.edu	37	chr3	184045152	184045152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaaggaagtggaggagCggagtagagaacggccctcc	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184045152C>T	ENST00000342981.4	+	23	3994	c.3580C>T	c.(3580-3582)Cgg>Tgg	p.R1194W	EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1200W|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1029W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1154W|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1030W|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R997W|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1193W|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1107W|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1193W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1153W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1200W|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R998W|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1106W	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1193					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTGGAGGAGCGGAGTAGAGA	0.672													False	0	False	3:184045152	0	T	184045152	C	T	184045152	3	4	88	1	0	0	0	0	1	0	0	0	5068	759	27	1	3663	1	EIF4G1	3	184045152	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3075	184045152	13977278	4731	12443											
EIF4G1	1981	broad.mit.edu	37	chr3	184046477	184046477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgacatcccccacgtgtggCtctacctagcggaactggta	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184046477C>A	ENST00000342981.4	+	26	4429	c.4015C>A	c.(4015-4017)Ctc>Atc	p.L1339I	EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1345I|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1174I|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1299I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1175I|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1142I|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1338I|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1252I|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L1338I|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1298I|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1345I|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1143I|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1251I	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1338	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACGTGTGGCTCTACCTAGC	0.532													False	0	False	3:184046477	0	A	184046477	C	A	184046477	3	1	88	1	0	0	0	0	1	0	0	0	5068	797	28	3	4110	3	EIF4G1	3	184046477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1325	184046477	13975953	4732	12444											
EIF4G1	1981	broad.mit.edu	37	chr3	184052556	184052556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcactgtatgacgaggacGtggtgaaggaggatgccttc	15	8	0	2	rs140087596	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184052556G>A	ENST00000342981.4	+	32	5077	c.4663G>A	c.(4663-4665)Gtg>Atg	p.V1555M	EIF4G1_ENST00000424196.1_Missense_Mutation_p.V1561M|EIF4G1_ENST00000350481.5_Missense_Mutation_p.V1390M|EIF4G1_ENST00000352767.3_Missense_Mutation_p.V1561M|EIF4G1_ENST00000411531.1_Missense_Mutation_p.V1515M|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.V1391M|EIF4G1_ENST00000435046.2_Missense_Mutation_p.V1358M|EIF4G1_ENST00000319274.6_Missense_Mutation_p.V1554M|EIF4G1_ENST00000427845.1_Missense_Mutation_p.V1468M|EIF4G1_ENST00000346169.2_Missense_Mutation_p.V1554M|EIF4G1_ENST00000414031.1_Missense_Mutation_p.V1514M|EIF4G1_ENST00000382330.3_Missense_Mutation_p.V1561M|EIF4G1_ENST00000434061.2_Missense_Mutation_p.V1359M|EIF4G1_ENST00000392537.2_Missense_Mutation_p.V1467M	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1554	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACGAGGACGTGGTGAAGGA	0.592													False	0	False	3:184052556	0	A	184052556	G	A	184052556	3	1	88	1	0	0	0	0	1	0	0	0	5068	1145	40	1	4782	1	EIF4G1	3	184052556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6079	184052556	13969874	4733	12445											
FAM131A	131408	broad.mit.edu	37	chr3	184062357	184062357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggttctcccggcctgtgCgccagggctccgtggagcct	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184062357C>T	ENST00000310585.4	+	3	1971	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000450976.1_Missense_Mutation_p.R149C|FAM131A_ENST00000383847.2_Missense_Mutation_p.R234C|FAM131A_ENST00000340957.5_Missense_Mutation_p.R149C|FAM131A_ENST00000418281.1_Missense_Mutation_p.R111C|FAM131A_ENST00000453072.1_Missense_Mutation_p.R149C			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	203						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGGCCTGTGCGCCAGGGCTC	0.642													False	0	False	3:184062357	0	T	184062357	C	T	184062357	3	4	88	1	0	0	0	0	1	0	0	0	5475	768	27	1	722	1	FAM131A	3	184062357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9801	184062357	13960073	4734	12446											
CLCN2	1181	broad.mit.edu	37	chr3	184064584	184064584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagccctcgatggccttcCggagctggaaaggtgagagg	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184064584C>T	ENST00000265593.4	-	24	2678	c.2507G>A	c.(2506-2508)cGg>cAg	p.R836Q	CLCN2_ENST00000434054.2_Missense_Mutation_p.R792Q|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.R819Q|CLCN2_ENST00000457512.1_Missense_Mutation_p.R807Q|CLCN2_ENST00000423355.2_3'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	836	CBS 2.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GATGGCCTTCCGGAGCTGGAA	0.612													False	0	False	3:184064584	0	T	184064584	C	T	184064584	3	4	88	1	0	0	0	0	1	0	0	0	3486	652	23	1	193	1	CLCN2	3	184064584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2227	184064584	13957846	4735	12447											
CLCN2	1181	broad.mit.edu	37	chr3	184072081	184072081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacactgtgtgtgtcaccGctcctgccagcgcagctgcc	12	15	1	0	rs145746859		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184072081G>A	ENST00000265593.4	-	15	1700	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	CLCN2_ENST00000434054.2_Missense_Mutation_p.A466V|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.A493V|CLCN2_ENST00000457512.1_Missense_Mutation_p.A510V|CLCN2_ENST00000423355.2_Missense_Mutation_p.R126W	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	510						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTGTGTCACCGCTCCTGCCAG	0.627											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	3:184072081	0	A	184072081	G	A	184072081	3	1	88	1	0	0	0	0	1	0	0	0	3486	1087	38	1	1207	1	CLCN2	3	184072081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7497	184072081	13950349	4736	12448											
CLCN2	1181	broad.mit.edu	37	chr3	184079203	184079203	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagctcagcttcacttAccagggtctgctcgtactgc	10	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184079203A>G	ENST00000265593.4	-	1	235		c.e1+1		CLCN2_ENST00000434054.2_Splice_Site|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Splice_Site|CLCN2_ENST00000457512.1_Splice_Site|CLCN2_ENST00000423355.2_Splice_Site	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2							chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGCTTCACTTACCAGGGTCTG	0.687													False	0	False	3:184079203	0	G	184079203	A	G	184079203	5	3	88	1	0	0	0	0	0	0	1	0	3486	405	14	4	2727	4	CLCN2	3	184079203	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7122	184079203	13943227	4737	12449											
THPO	7066	broad.mit.edu	37	chr3	184090519	184090519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggttgggtggcagggagcCtgtgtctgatgttcctgagg	19	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184090519C>T	ENST00000204615.7	-	6	1058	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.R243K|THPO_ENST00000445696.2_Missense_Mutation_p.G278S	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	282					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCAGGGAGCCTGTGTCTGAT	0.567													False	0	False	3:184090519	0	T	184090519	C	T	184090519	3	4	88	1	0	0	0	0	1	0	0	0	15954	681	24	2	221	2	THPO	3	184090519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11316	184090519	13931911	4738	12450											
CHRD	8646	broad.mit.edu	37	chr3	184102964	184102964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcactgtcactgcccacCtccttgggcctcctggaacg	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184102964C>T	ENST00000204604.1	+	14	2002	c.1756C>T	c.(1756-1758)Ctc>Ttc	p.L586F	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.L216F|CHRD_ENST00000348986.3_Missense_Mutation_p.L546F|CHRD_ENST00000450923.1_Missense_Mutation_p.L586F	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	586	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACTGCCCACCTCCTTGGGCC	0.592													False	0	False	3:184102964	0	T	184102964	C	T	184102964	3	4	88	1	0	0	0	0	1	0	0	0	3395	681	24	2	1810	2	CHRD	3	184102964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12445	184102964	13919466	4739	12451											
CHRD	8646	broad.mit.edu	37	chr3	184104362	184104362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcgggcgctgggggctcCggatacagcctctgctgcgc	18	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184104362C>T	ENST00000204604.1	+	16	2261	c.2015C>T	c.(2014-2016)cCg>cTg	p.P672L	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.P632L|CHRD_ENST00000450923.1_Missense_Mutation_p.P672L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	672					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGGGGGCTCCGGATACAGCC	0.716													False	0	False	3:184104362	0	T	184104362	C	T	184104362	3	4	88	1	0	0	0	0	1	0	0	0	3395	652	23	1	2077	1	CHRD	3	184104362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1398	184104362	13918068	4740	12452											
EPHB3	2049	broad.mit.edu	37	chr3	184290513	184290513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttcaacctcttctactaCgaggctgacagcgatgtggc	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184290513C>T	ENST00000330394.2	+	3	857	c.405C>T	c.(403-405)taC>taT	p.Y135Y	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	135						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCTTCTACTACGAGGCTGACA	0.587													False	0	False	3:184290513	0	T	184290513	C	T	184290513	2	4	88	1	0	0	0	0	0	0	0	1	5208	547	19	1		1	EPHB3	3	184290513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186151	184290513	13731917	4741	12453											
EPHB3	2049	broad.mit.edu	37	chr3	184290757	184290757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtgtgcatccaccaccGcaggcttcgcactcttcccc	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184290757G>A	ENST00000330394.2	+	3	1101	c.649G>A	c.(649-651)Gca>Aca	p.A217T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	217	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A217T(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATCCACCACCGCAGGCTTCGC	0.632													False	0	False	3:184290757	0	A	184290757	G	A	184290757	3	1	88	1	0	0	0	0	1	0	0	0	5208	1087	38	1	659	1	EPHB3	3	184290757	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244	184290757	13731673	4742	12454											
EPHB3	2049	broad.mit.edu	37	chr3	184297593	184297593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggcgggacttcctaagCgaggcctccatcatgggtca	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184297593C>T	ENST00000330394.2	+	11	2495	c.2043C>T	c.(2041-2043)agC>agT	p.S681S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	681	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACTTCCTAAGCGAGGCCTCCA	0.582													False	0	False	3:184297593	0	T	184297593	C	T	184297593	2	4	88	1	0	0	0	0	0	0	0	1	5208	767	27	1		1	EPHB3	3	184297593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6836	184297593	13724837	4743	12455											
EPHB3	2049	broad.mit.edu	37	chr3	184298910	184298910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccctggacaagctcatcCgcaatgctgccagcctcaag	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184298910C>T	ENST00000330394.2	+	14	3141	c.2689C>T	c.(2689-2691)Cgc>Tgc	p.R897C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	897						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CAAGCTCATCCGCAATGCTGC	0.587													False	0	False	3:184298910	0	T	184298910	C	T	184298910	3	4	88	1	0	0	0	0	1	0	0	0	5208	652	23	1	2743	1	EPHB3	3	184298910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1317	184298910	13723520	4744	12456											
EPHB3	2049	broad.mit.edu	37	chr3	184299391	184299391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctgcagatgaaccagaCgctgcctgtgcaggtctgac	14	12	1	4	rs144473660	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184299391C>T	ENST00000330394.2	+	16	3430	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	993						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATGAACCAGACGCTGCCTGTG	0.617													False	0	False	3:184299391	0	T	184299391	C	T	184299391	3	4	88	1	0	0	0	0	1	0	0	0	5208	536	19	1	3040	1	EPHB3	3	184299391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	481	184299391	13723039	4745	12457											
EHHADH	1962	broad.mit.edu	37	chr3	184971732	184971732	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggaggcgaccgagcccGttacctgatcgcgttgaccg	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184971732G>A	ENST00000456310.1	-	0	104				EHHADH_ENST00000231887.3_Intron|EHHADH_ENST00000440662.1_Intron|EHHADH_ENST00000475987.1_Intron			Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase							peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GACCGAGCCCGTTACCTGATC	0.647													False	0	True	3:184971732	0	A	184971732	G	A	184971732	1	1	88	1	0	0	0	0	0	0	0	0	5012	1160	40	1		1	EHHADH	3	184971732	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	672341	184971732	13050698	4746	12458											
MAP3K13	9175	broad.mit.edu	37	chr3	185183578	185183578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actatgagcggaagcttgagCgggcgaataatttatacatg	12	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185183578C>T	ENST00000265026.3	+	9	1766	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	MAP3K13_ENST00000424227.1_Missense_Mutation_p.R478W|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R334W|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R271W	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	478					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.R478W(2)|p.R478R(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAAGCTTGAGCGGGCGAATAA	0.478													False	0	True	3:185183578	0	T	185183578	C	T	185183578	3	4	88	1	0	0	0	0	1	0	0	0	9314	759	27	1	1462	1	MAP3K13	3	185183578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211846	185183578	12838852	4747	12459											
MAP3K13	9175	broad.mit.edu	37	chr3	185200169	185200169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagtttgaagaatcggaCtgtgactcttcagatgggga	13	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185200169C>T	ENST00000265026.3	+	14	3160	c.2826C>T	c.(2824-2826)gaC>gaT	p.D942D	MAP3K13_ENST00000424227.1_Silent_p.D942D|TMEM41A_ENST00000475480.1_Intron|MAP3K13_ENST00000535426.1_Silent_p.D798D|MAP3K13_ENST00000443863.1_Silent_p.D798D|MAP3K13_ENST00000446828.1_Silent_p.D735D	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	942					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.D942D(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGAATCGGACTGTGACTCTT	0.423													False	0	False	3:185200169	0	T	185200169	C	T	185200169	2	4	88	1	0	0	0	0	0	0	0	1	9314	564	20	2		2	MAP3K13	3	185200169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16591	185200169	12822261	4748	12460											
TMEM41A	90407	broad.mit.edu	37	chr3	185209335	185209335	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatccagatcatgtgtctTttctactgtgtatatgatta	6	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185209335T>G	ENST00000421852.1	-	5	880	c.785A>C	c.(784-786)aAa>aCa	p.K262T	TMEM41A_ENST00000296254.3_3'UTR|TMEM41A_ENST00000475480.1_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	262						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCATGTGTCTTTTCTACTGTG	0.383													False	0	True	3:185209335	0	G	185209335	T	G	185209335	3	3	88	1	0	0	0	0	1	0	0	0	16246	1841	64	4	13	4	TMEM41A	3	185209335	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9166	185209335	12813095	4749	12461											
LIPH	200879	broad.mit.edu	37	chr3	185232288	185232288	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcttgttccatgttataAtatccacaaagtaatgatac	4	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185232288A>C	ENST00000296252.4	-	8	1145	c.1004T>G	c.(1003-1005)aTt>aGt	p.I335S	LIPH_ENST00000424591.2_Missense_Mutation_p.I301S	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	335					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCATGTTATAATATCCACAAA	0.393													False	0	False	3:185232288	0	C	185232288	A	C	185232288	3	2	88	1	0	0	0	0	1	0	0	0	8877	101	4	4	363	4	LIPH	3	185232288	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22953	185232288	12790142	4750	12462											
SENP2	59343	broad.mit.edu	37	chr3	185304209	185304209	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttgggcctggtatgtacaGatggctggttaggattctcg	15	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185304209G>A	ENST00000296257.5	+	1	248	c.8G>A	c.(7-9)aGa>aAa	p.R3K	SENP2_ENST00000427465.2_De_novo_Start_InFrame|SENP2_ENST00000545472.1_Intron|SENP2_ENST00000465201.1_Intron	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	3					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGTATGTACAGATGGCTGGTT	0.657													False	0	False	3:185304209	0	A	185304209	G	A	185304209	3	1	88	1	0	0	0	0	1	0	0	0	14128	942	33	2	10	2	SENP2	3	185304209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71921	185304209	12718221	4751	12463											
IGF2BP2	10644	broad.mit.edu	37	chr3	185407235	185407235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggaccaggatccgcagCgggaaatcaatctgtctggc	15	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185407235C>T	ENST00000382199.2	-	6	680	c.585G>A	c.(583-585)ccG>ccA	p.P195P	IGF2BP2_ENST00000457616.2_Silent_p.P201P|IGF2BP2_ENST00000421047.2_Silent_p.P138P|IGF2BP2_ENST00000346192.3_Silent_p.P195P	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	195	KH 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGATCCGCAGCGGGAAATCAA	0.622													False	0	True	3:185407235	0	T	185407235	C	T	185407235	2	4	88	1	0	0	0	0	0	0	0	1	7624	755	27	1		1	IGF2BP2	3	185407235	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103026	185407235	12615195	4752	12464											
ETV5	2119	broad.mit.edu	37	chr3	185774871	185774871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagtgcatacctcttccGgttctatcagcttgaactcc	6	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185774871G>A	ENST00000306376.5	-	11	1448	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	ETV5_ENST00000434744.1_Missense_Mutation_p.P401L|ETV5_ENST00000537818.1_Missense_Mutation_p.P443L|ETV5_ENST00000480706.1_5'UTR	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	401					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TACCTCTTCCGGTTCTATCAG	0.473			T	"TMPRSS2, SCL45A3"	Prostate								False	0	False	3:185774871	0	A	185774871	G	A	185774871	3	1	88	1	0	0	0	0	1	0	0	0	5314	1116	39	1	342	1	ETV5	3	185774871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367636	185774871	12247559	4753	12465											
DGKG	1608	broad.mit.edu	37	chr3	185986607	185986607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtcatccggcaccacaCgcagtgccgcgcggtgacac	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185986607C>T	ENST00000265022.3	-	12	1638	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	DGKG_ENST00000382164.4_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.V367M|DGKG_ENST00000544847.1_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	367					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGGCACCACACGCAGTGCCGC	0.602													False	0	False	3:185986607	0	T	185986607	C	T	185986607	3	4	88	1	0	0	0	0	1	0	0	0	4499	536	19	1	1332	1	DGKG	3	185986607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211736	185986607	12035823	4754	12466											
DGKG	1608	broad.mit.edu	37	chr3	185993442	185993442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggcgtgccgcccatcCcccttggagccctgcagggg	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185993442C>T	ENST00000265022.3	-	10	1343	c.804G>A	c.(802-804)ggG>ggA	p.G268G	DGKG_ENST00000382164.4_Silent_p.G268G|DGKG_ENST00000344484.4_Silent_p.G268G|DGKG_ENST00000544847.1_Silent_p.G268G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	268					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCCGCCCATCCCCCTTGGAGC	0.577													False	0	True	3:185993442	0	T	185993442	C	T	185993442	2	4	88	1	0	0	0	0	0	0	0	1	4499	610	22	2		2	DGKG	3	185993442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6835	185993442	12028988	4755	12467											
CRYGS	1427	broad.mit.edu	37	chr3	186256636	186256636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccctccagcaccttacagGagtggatctctcgcatgtga	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186256636G>A	ENST00000392499.2	-	4	725	c.386C>T	c.(385-387)tCc>tTc	p.S129F	CRYGS_ENST00000307944.5_Missense_Mutation_p.S129F	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	129	Beta/gamma crystallin 'Greek key' 3.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		CACCTTACAGGAGTGGATCTC	0.488													False	0	False	3:186256636	0	A	186256636	G	A	186256636	3	1	88	1	0	0	0	0	1	0	0	0	3942	1174	41	2	154	2	CRYGS	3	186256636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263194	186256636	11765794	4756	12468											
TBCCD1	55171	broad.mit.edu	37	chr3	186272090	186272090	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctgccagatctgtatcttCtgttctctttgacccagtgc	7	12	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186272090C>T	ENST00000424280.1	-	6	1976	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000446782.1_Silent_p.Q403Q|TBCCD1_ENST00000338733.5_Silent_p.Q499Q	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	499					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TCTGTATCTTCTGTTCTCTTT	0.393													False	0	False	3:186272090	0	T	186272090	C	T	186272090	2	4	88	1	0	0	0	0	0	0	0	1	15714	912	32	2		2	TBCCD1	3	186272090	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15454	186272090	11750340	4757	12469											
DNAJB11	51726	broad.mit.edu	37	chr3	186299230	186299230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattgtcggcaagagatgcGgaccacccagctgggccctg	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186299230G>A	ENST00000439351.1	+	6	1456	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R176Q			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	176					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CAAGAGATGCGGACCACCCAG	0.517													False	0	False	3:186299230	0	A	186299230	G	A	186299230	3	1	88	1	0	0	0	0	1	0	0	0	4646	1116	39	1	545	1	DNAJB11	3	186299230	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27140	186299230	11723200	4758	12470											
DNAJB11	51726	broad.mit.edu	37	chr3	186302256	186302256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagatcaccaggccaggagCgaagctatggaagaaagggg	15	7	1	2	rs139219315		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186302256C>T	ENST00000439351.1	+	10	1819	c.890C>T	c.(889-891)gCg>gTg	p.A297V	DNAJB11_ENST00000265028.3_Missense_Mutation_p.A297V			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	297					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGCCAGGAGCGAAGCTATGG	0.448													False	0	False	3:186302256	0	T	186302256	C	T	186302256	3	4	88	1	0	0	0	0	1	0	0	0	4646	768	27	1	924	1	DNAJB11	3	186302256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3026	186302256	11720174	4759	12471											
AHSG	197	broad.mit.edu	37	chr3	186334294	186334294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagttttccgtggtataCgcaaaatgtgattccagtcc	10	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186334294C>T	ENST00000411641.2	+	3	606	c.387C>T	c.(385-387)taC>taT	p.Y129Y	AHSG_ENST00000273784.5_Silent_p.Y129Y			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	129	Cystatin fetuin-A-type 1.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCGTGGTATACGCAAAATGTG	0.433													False	0	False	3:186334294	0	T	186334294	C	T	186334294	2	4	88	1	0	0	0	0	0	0	0	1	420	547	19	1		1	AHSG	3	186334294	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32038	186334294	11688136	4760	12472											
FETUB	26998	broad.mit.edu	37	chr3	186358424	186358424	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttaacaaagacagaaaggatGgctatgtgctgagactcaac	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186358424G>C	ENST00000265029.3	+	1	276	c.175G>C	c.(175-177)Ggc>Cgc	p.G59R	FETUB_ENST00000382136.3_Missense_Mutation_p.G59R|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000450521.1_Missense_Mutation_p.G59R|FETUB_ENST00000382134.3_Missense_Mutation_p.G59R	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	59	Cystatin fetuin-B-type 1.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAGAAAGGATGGCTATGTGCT	0.577													False	0	False	3:186358424	0	C	186358424	G	C	186358424	3	2	88	1	0	0	0	0	1	0	0	0	5861	1348	47	5	177	5	FETUB	3	186358424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24130	186358424	11664006	4761	12473											
HRG	3273	broad.mit.edu	37	chr3	186395415	186395415	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgggcacttaagaaggCgaggcccaggtaaaggaccc	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186395415C>T	ENST00000232003.4	+	7	1401	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	441	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTTAAGAAGGCGAGGCCCAGG	0.552													False	0	False	3:186395415	0	T	186395415	C	T	186395415	4	4	88	1	0	0	0	0	0	1	0	0	7401	760	27	1	1347	1	HRG	3	186395415	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36991	186395415	11627015	4762	12474											
EIF4A2	1974	broad.mit.edu	37	chr3	186505616	186505616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggattgatgtgcaacaaGtgtctttggttataaattat	11	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186505616G>A	ENST00000323963.5	+	10	1088	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	EIF4A2_ENST00000356531.5_Missense_Mutation_p.V247M|EIF4A2_ENST00000440191.2_Missense_Mutation_p.V343M			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	342	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGTGCAACAAGTGTCTTTGGT	0.368			T	BCL6	NHL								False	0	False	3:186505616	0	A	186505616	G	A	186505616	3	1	88	1	0	0	0	0	1	0	0	0	5057	1029	36	2	1062	2	EIF4A2	3	186505616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110201	186505616	11516814	4763	12475											
ST6GAL1	6480	broad.mit.edu	37	chr3	186793412	186793412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagttcctcccatccaagCgcaagactgacgtgtgctac	9	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186793412C>T	ENST00000169298.3	+	8	1716	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.R348C|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.R117C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	348					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCCATCCAAGCGCAAGACTGA	0.512													False	0	False	3:186793412	0	T	186793412	C	T	186793412	3	4	88	1	0	0	0	0	1	0	0	0	15303	768	27	1	1060	1	ST6GAL1	3	186793412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287796	186793412	11229018	4764	12476											
RTP1	132112	broad.mit.edu	37	chr3	186917808	186917808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcttgttttgggccacgGtcctgctgctgatcatctac	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186917808G>A	ENST00000312295.4	+	2	772	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	248					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TTGGGCCACGGTCCTGCTGCT	0.597													False	0	False	3:186917808	0	A	186917808	G	A	186917808	3	1	88	1	0	0	0	0	1	0	0	0	13812	1261	44	2	748	2	RTP1	3	186917808	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124396	186917808	11104622	4765	12477											
MASP1	5648	broad.mit.edu	37	chr3	186953477	186953477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtaagtcagctcaccGttccacctggggctccacaa	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186953477G>A	ENST00000296280.6	-	11	2407	c.2182C>T	c.(2182-2184)Cgg>Tgg	p.R728W	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.R615W	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	0					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCAGCTCACCGTTCCACCTGG	0.542													False	0	False	3:186953477	0	A	186953477	G	A	186953477	3	1	88	1	0	0	0	0	1	0	0	0	9389	1144	40	1	829	1	MASP1	3	186953477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35669	186953477	11068953	4766	12478											
MASP1	5648	broad.mit.edu	37	chr3	186968053	186968053	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttacttttacaggtgggaAtcttgttactccacgtccca	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186968053A>C	ENST00000337774.5	-	8	1465	c.1076T>G	c.(1075-1077)aTt>aGt	p.I359S	MASP1_ENST00000169293.6_Missense_Mutation_p.I359S|MASP1_ENST00000392470.2_Missense_Mutation_p.I333S|MASP1_ENST00000296280.6_Missense_Mutation_p.I359S|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.I246S	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	359	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACAGGTGGGAATCTTGTTACT	0.488													False	0	False	3:186968053	0	C	186968053	A	C	186968053	3	2	88	1	0	0	0	0	1	0	0	0	9389	101	4	4	2004	4	MASP1	3	186968053	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14576	186968053	11054377	4767	12479											
MASP1	5648	broad.mit.edu	37	chr3	187009414	187009414	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctcctcccctggcacgtAcctcattttcctgccttggg	7	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187009414A>G	ENST00000337774.5	-	1	395		c.e1+1		MASP1_ENST00000169293.6_Splice_Site|MASP1_ENST00000392470.2_Splice_Site|MASP1_ENST00000296280.6_Splice_Site|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Splice_Site	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCTGGCACGTACCTCATTTTC	0.607													False	0	False	3:187009414	0	G	187009414	A	G	187009414	5	3	88	1	0	0	0	0	0	0	1	0	9389	405	14	4	3101	4	MASP1	3	187009414	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41361	187009414	11013016	4768	12480											
RTP4	64108	broad.mit.edu	37	chr3	187088613	187088613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcgaagttgggcttccGcccaagtgcagattctgtgc	13	12	1	1	rs142974092	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187088613G>A	ENST00000259030.2	+	2	303	c.193G>A	c.(193-195)Gcc>Acc	p.A65T		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	65					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TTGGGCTTCCGCCCAAGTGCA	0.552													False	0	True	3:187088613	0	A	187088613	G	A	187088613	3	1	88	1	0	0	0	0	1	0	0	0	13815	1087	38	1	199	1	RTP4	3	187088613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79199	187088613	10933817	4769	12481											
SST	6750	broad.mit.edu	37	chr3	187386922	187386922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttctcggggtgccatagcCgggtttgagttagcagatct	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386922C>T	ENST00000287641.3	-	2	389	c.282G>A	c.(280-282)ccG>ccA	p.P94P		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	94					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	GTGCCATAGCCGGGTTTGAGT	0.493													False	0	True	3:187386922	0	T	187386922	C	T	187386922	2	4	88	1	0	0	0	0	0	0	0	1	15278	639	23	1		1	SST	3	187386922	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298309	187386922	10635508	4770	12482											
SST	6750	broad.mit.edu	37	chr3	187386950	187386950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttagcagatctctgcagcTcaagcctcatttcatcctgc	7	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386950T>G	ENST00000287641.3	-	2	361	c.254A>C	c.(253-255)gAg>gCg	p.E85A		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	85					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	TCTCTGCAGCTCAAGCCTCAT	0.517													False	0	False	3:187386950	0	G	187386950	T	G	187386950	3	3	88	1	0	0	0	0	1	0	0	0	15278	1551	54	4	100	4	SST	3	187386950	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28	187386950	10635480	4771	12483											
SST	6750	broad.mit.edu	37	chr3	187387999	187387999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgacggagtctggggtcCgagggagcgccggtgacaca	17	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187387999C>T	ENST00000287641.3	-	1	188	c.81G>A	c.(79-81)tcG>tcA	p.S27S		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	27					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	GTCTGGGGTCCGAGGGAGCGC	0.682													False	0	False	3:187387999	0	T	187387999	C	T	187387999	2	4	88	1	0	0	0	0	0	0	0	1	15278	639	23	1		1	SST	3	187387999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1049	187387999	10634431	4772	12484											
BCL6	604	broad.mit.edu	37	chr3	187449609	187449609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaattgagccgagatgtgtAcatgaagtccaggaggatgc	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187449609A>G	ENST00000406870.2	-	4	637	c.271T>C	c.(271-273)Tac>Cac	p.Y91H	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.Y91H|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.Y91H	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	91	BTB.				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CGAGATGTGTACATGAAGTCC	0.488			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								False	0	False	3:187449609	0	G	187449609	A	G	187449609	3	3	88	1	0	0	0	0	1	0	0	0	1380	391	14	4	1877	4	BCL6	3	187449609	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61610	187449609	10572821	4773	12485											
LPP	4026	broad.mit.edu	37	chr3	188327248	188327248	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccccttcatcaggacaaatTtatggctcagggccccaggg	11	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188327248T>G	ENST00000312675.4	+	6	975	c.729T>G	c.(727-729)atT>atG	p.I243M	LPP_ENST00000448637.1_Missense_Mutation_p.I243M|LPP_ENST00000543006.1_Missense_Mutation_p.I243M|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	243	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CAGGACAAATTTATGGCTCAG	0.542			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								False	0	True	3:188327248	0	G	188327248	T	G	188327248	3	3	88	1	0	0	0	0	1	0	0	0	8985	1829	64	4	743	4	LPP	3	188327248	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	877639	188327248	9695182	4774	12486											
LPP	4026	broad.mit.edu	37	chr3	188584050	188584050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcggattctccgagccacCgggaaggcctatcatcctca	11	14	3	0	rs138205223	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188584050C>T	ENST00000312675.4	+	9	1719	c.1473C>T	c.(1471-1473)acC>acT	p.T491T	LPP_ENST00000543006.1_Silent_p.T491T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	491	LIM zinc-binding 2.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCCGAGCCACCGGGAAGGCCT	0.562			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								False	0	True	3:188584050	0	T	188584050	C	T	188584050	2	4	88	1	0	0	0	0	0	0	0	1	8985	639	23	1		1	LPP	3	188584050	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	256802	188584050	9438380	4775	12487											
LPP	4026	broad.mit.edu	37	chr3	188590548	188590548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgttcactgctaccgatgCgaggtctggttgacagccct	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188590548C>T	ENST00000312675.4	+	10	1953	c.1707C>T	c.(1705-1707)tgC>tgT	p.C569C	LPP_ENST00000543006.1_Silent_p.C569C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	569	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCTACCGATGCGAGGTCTGGT	0.522			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								False	0	False	3:188590548	0	T	188590548	C	T	188590548	2	4	88	1	0	0	0	0	0	0	0	1	8985	776	27	1		1	LPP	3	188590548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6498	188590548	9431882	4776	12488											
TPRG1	285386	broad.mit.edu	37	chr3	189028272	189028272	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccactgaagttccttatgctActttcactgagcatcctatg	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189028272A>G	ENST00000345063.3	+	5	744	c.577A>G	c.(577-579)Act>Gct	p.T193A	TPRG1_ENST00000433971.1_Missense_Mutation_p.T193A	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	193										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TCCTTATGCTACTTTCACTGA	0.473													False	0	False	3:189028272	0	G	189028272	A	G	189028272	3	3	88	1	0	0	0	0	1	0	0	0	16501	391	14	4	591	4	TPRG1	3	189028272	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	437724	189028272	8994158	4777	12489											
TP63	8626	broad.mit.edu	37	chr3	189349340	189349340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggtgtgccaccctacaGtactgccctgacccttacat	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189349340G>A	ENST00000264731.3	+	1	125	c.36G>A	c.(34-36)caG>caA	p.Q12Q	TP63_ENST00000320472.5_Silent_p.Q12Q|TP63_ENST00000440651.2_Silent_p.Q12Q|TP63_ENST00000392460.3_Silent_p.Q12Q|TP63_ENST00000418709.2_Silent_p.Q12Q|TP63_ENST00000382063.4_Silent_p.Q12Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	12	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCACCCTACAGTACTGCCCTG	0.383										HNSCC(45;0.13)			False	0	False	3:189349340	0	A	189349340	G	A	189349340	2	1	88	1	0	0	0	0	0	0	0	1	16475	1020	36	2		2	TP63	3	189349340	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	321068	189349340	8673090	4778	12490											
TP63	8626	broad.mit.edu	37	chr3	189349364	189349364	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgacccttacatccaGcggtgagtttgaatgtgaca	10	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189349364G>T	ENST00000264731.3	+	1	149	c.60G>T	c.(58-60)caG>caT	p.Q20H	TP63_ENST00000320472.5_Missense_Mutation_p.Q20H|TP63_ENST00000440651.2_Missense_Mutation_p.Q20H|TP63_ENST00000392460.3_Missense_Mutation_p.Q20H|TP63_ENST00000418709.2_Missense_Mutation_p.Q20H|TP63_ENST00000382063.4_Missense_Mutation_p.Q20H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	20	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTACATCCAGCGGTGAGTTT	0.403										HNSCC(45;0.13)			False	0	False	3:189349364	0	T	189349364	G	T	189349364	3	4	88	1	0	0	0	0	1	0	0	0	16475	962	34	3	62	3	TP63	3	189349364	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	189349364	8673066	4779	12491											
TP63	8626	broad.mit.edu	37	chr3	189597951	189597951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acattccaagcccccaaaccGatcagtgtacccatagagcc	6	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189597951G>A	ENST00000418709.2	+	11	1476	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	TP63_ENST00000354600.5_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000440651.2_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000392461.3_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.R389Q|TP63_ENST00000456148.1_Intron|TP63_ENST00000382063.4_Intron	NM_001114979.1	NP_001108451.1	Q9H3D4	P63_HUMAN	tumor protein p63	0					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCCCAAACCGATCAGTGTAC	0.453										HNSCC(45;0.13)			False	0	False	3:189597951	0	A	189597951	G	A	189597951	3	1	88	1	0	0	0	0	1	0	0	0	16475	1058	37	1	1536	1	TP63	3	189597951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	248587	189597951	8424479	4780	12492											
LEPREL1	55214	broad.mit.edu	37	chr3	189702355	189702355	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccgattctcatcctgtcGtcctccatatctgatccaat	4	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189702355G>A	ENST00000319332.5	-	7	1410	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*	LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.R224*	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	405					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATCCTGTCGTCCTCCATAT	0.313													False	0	False	3:189702355	0	A	189702355	G	A	189702355	4	1	88	1	0	0	0	0	0	1	0	0	8781	1153	40	1	949	1	LEPREL1	3	189702355	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104404	189702355	8320075	4781	12493											
IL1RAP	0	broad.mit.edu	37	chr3	190326890	190326890	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcataaactgtatatagaaTatggcattcagaggatcact	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190326890T>C	ENST00000412504.2	+	4	709	c.457T>C	c.(457-459)Tat>Cat	p.Y153H	IL1RAP_ENST00000317757.3_Missense_Mutation_p.Y153H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.Y153H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.Y12H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.Y153H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.Y153H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	153	Ig-like C2-type 2.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GTATATAGAATATGGCATTCA	0.378													False	0	False	3:190326890	0	C	190326890	T	C	190326890	3	2	88	1	0	0	0	0	1	0	0	0	7710	1406	49	4	467	4	IL1RAP	3	190326890	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	624535	190326890	7695540	4782	12494											
IL1RAP	0	broad.mit.edu	37	chr3	190347219	190347219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctctgaggatctcaagcGcagctatgtctgtcatgcta	9	11	4	1	rs142111398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190347219G>A	ENST00000412504.2	+	8	1235	c.983G>A	c.(982-984)cGc>cAc	p.R328H	IL1RAP_ENST00000317757.3_Missense_Mutation_p.R328H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R328H|IL1RAP_ENST00000434491.1_Missense_Mutation_p.R187H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.R328H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R328H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	328	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GATCTCAAGCGCAGCTATGTC	0.418													False	0	False	3:190347219	0	A	190347219	G	A	190347219	3	1	88	1	0	0	0	0	1	0	0	0	7710	1087	38	1	1009	1	IL1RAP	3	190347219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20329	190347219	7675211	4783	12495											
FGF12	2257	broad.mit.edu	37	chr3	191888348	191888348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagtcccagaaaccaagctCggcctgattcttgctggcgg	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:191888348C>T	ENST00000445105.2	-	5	571	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	FGF12_ENST00000454309.2_Missense_Mutation_p.R171Q|FGF12_ENST00000264730.3_Missense_Mutation_p.R109Q|FGF12_ENST00000430714.1_Missense_Mutation_p.R72Q|FGF12_ENST00000450716.1_Missense_Mutation_p.R109Q	NM_004113.5	NP_004104.3	P61328	FGF12_HUMAN	fibroblast growth factor 12						cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AAACCAAGCTCGGCCTGATTC	0.413													False	0	False	3:191888348	0	T	191888348	C	T	191888348	3	4	88	1	0	0	0	0	1	0	0	0	5881	884	31	1	227	1	FGF12	3	191888348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1541129	191888348	6134082	4784	12496											
HRASLS	57110	broad.mit.edu	37	chr3	192973503	192973503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcccaggggacttgatcGaagtgttccgtcctggctat	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:192973503G>A	ENST00000264735.2	+	2	473	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	HRASLS_ENST00000602513.1_Missense_Mutation_p.E22K	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	22										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		GGACTTGATCGAAGTGTTCCG	0.478													False	0	False	3:192973503	0	A	192973503	G	A	192973503	3	1	88	1	0	0	0	0	1	0	0	0	7396	1059	37	1	66	1	HRASLS	3	192973503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1085155	192973503	5048927	4785	12497											
ATP13A5	344905	broad.mit.edu	37	chr3	193036817	193036817	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaaagattccccatctTtaaggttttgtgggcaagag	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193036817T>C	ENST00000342358.4	-	17	2113	c.1996A>G	c.(1996-1998)Aag>Gag	p.K666E		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	666					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCCCCATCTTTAAGGTTTTG	0.498													False	0	True	3:193036817	0	C	193036817	T	C	193036817	3	2	88	1	0	0	0	0	1	0	0	0	1131	1850	64	4	1714	4	ATP13A5	3	193036817	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63314	193036817	4985613	4786	12498											
ATP13A5	344905	broad.mit.edu	37	chr3	193036890	193036890	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcagttcctgtgggaaattCttgggcactgccagggtaga	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193036890C>A	ENST00000342358.4	-	17	2040	c.1923G>T	c.(1921-1923)aaG>aaT	p.K641N		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	641					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGGGAAATTCTTGGGCACTG	0.483													False	0	False	3:193036890	0	A	193036890	C	A	193036890	3	1	88	1	0	0	0	0	1	0	0	0	1131	912	32	3	1787	3	ATP13A5	3	193036890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	193036890	4985540	4787	12499											
ATP13A5	344905	broad.mit.edu	37	chr3	193096461	193096461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagactcaccagttcatcCtcctctccctggttgagcaa	8	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193096461C>A	ENST00000342358.4	-	1	171	c.54G>T	c.(52-54)gaG>gaT	p.E18D		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	18					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAGTTCATCCTCCTCTCCCT	0.463													False	0	False	3:193096461	0	A	193096461	C	A	193096461	3	1	88	1	0	0	0	0	1	0	0	0	1131	680	24	3	3720	3	ATP13A5	3	193096461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59571	193096461	4925969	4788	12500											
ATP13A4	84239	broad.mit.edu	37	chr3	193166086	193166086	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgattctccaagatcagcagCcccagaaatatcaggtctga	8	12	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193166086C>T	ENST00000342695.4	-	18	2383	c.2061G>A	c.(2059-2061)ggG>ggA	p.G687G	ATP13A4_ENST00000392443.3_Silent_p.G668G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	687					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGATCAGCAGCCCCAGAAATA	0.398													False	0	True	3:193166086	0	T	193166086	C	T	193166086	2	4	88	1	0	0	0	0	0	0	0	1	1130	726	26	2		2	ATP13A4	3	193166086	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69625	193166086	4856344	4789	12501											
ATP13A4	84239	broad.mit.edu	37	chr3	193166103	193166103	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagccccagaaatatcaggtCtgattctaccgtctccctga	7	14	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193166103C>A	ENST00000342695.4	-	18	2366	c.2044G>T	c.(2044-2046)Gac>Tac	p.D682Y	ATP13A4_ENST00000392443.3_Missense_Mutation_p.D663Y	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	682					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AATATCAGGTCTGATTCTACC	0.413													False	0	False	3:193166103	0	A	193166103	C	A	193166103	3	1	88	1	0	0	0	0	1	0	0	0	1130	913	32	3	1598	3	ATP13A4	3	193166103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17	193166103	4856327	4790	12502											
ATP13A4	84239	broad.mit.edu	37	chr3	193171892	193171892	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatcatccccatttacctCgtcaaggtagtagcgtgatg	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193171892C>T	ENST00000342695.4	-	17	2347	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	ATP13A4_ENST00000392443.3_Silent_p.T656T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	675					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCATTTACCTCGTCAAGGTAG	0.448													False	0	False	3:193171892	0	T	193171892	C	T	193171892	2	4	88	1	0	0	0	0	0	0	0	1	1130	871	31	1		1	ATP13A4	3	193171892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5789	193171892	4850538	4791	12503											
CPN2	1370	broad.mit.edu	37	chr3	194061981	194061981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacggtgccctcggggttgCtgtaggtgcactggctccgg	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194061981C>A	ENST00000323830.3	-	2	1540	c.1451G>T	c.(1450-1452)aGc>aTc	p.S484I	CPN2_ENST00000429275.1_Missense_Mutation_p.S484I	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	484					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CTCGGGGTTGCTGTAGGTGCA	0.662													False	0	False	3:194061981	0	A	194061981	C	A	194061981	3	1	88	1	0	0	0	0	1	0	0	0	3833	797	28	3	190	3	CPN2	3	194061981	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	890089	194061981	3960449	4792	12504											
GP5	2814	broad.mit.edu	37	chr3	194117894	194117894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagggcgcgcagcctgTtgcggcgcagggacacctgg	20	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194117894T>C	ENST00000401815.1	-	1	1189	c.1118A>G	c.(1117-1119)aAc>aGc	p.N373S	GP5_ENST00000323007.3_Missense_Mutation_p.N373S			P40197	GPV_HUMAN	glycoprotein V (platelet)	373					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCGCAGCCTGTTGCGGCGCAG	0.711													False	0	False	3:194117894	0	C	194117894	T	C	194117894	3	2	88	1	0	0	0	0	1	0	0	0	6629	1725	60	4	568	4	GP5	3	194117894	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55913	194117894	3904536	4793	12505											
GP5	2814	broad.mit.edu	37	chr3	194118727	194118727	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttcagttttatcaggtcActgaaggtgccgggggcaac	13	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194118727A>G	ENST00000401815.1	-	1	356	c.285T>C	c.(283-285)agT>agC	p.S95S	GP5_ENST00000323007.3_Silent_p.S95S			P40197	GPV_HUMAN	glycoprotein V (platelet)	95					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TTATCAGGTCACTGAAGGTGC	0.577													False	0	False	3:194118727	0	G	194118727	A	G	194118727	2	3	88	1	0	0	0	0	0	0	0	1	6629	156	6	4		4	GP5	3	194118727	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	833	194118727	3903703	4794	12506											
GP5	2814	broad.mit.edu	37	chr3	194118876	194118876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggttggtgggcaggcctaGcgcggagatgcgcgccacgt	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194118876G>T	ENST00000401815.1	-	1	207	c.136C>A	c.(136-138)Cta>Ata	p.L46I	GP5_ENST00000323007.3_Missense_Mutation_p.L46I			P40197	GPV_HUMAN	glycoprotein V (platelet)	46	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGCAGGCCTAGCGCGGAGATG	0.697													False	0	False	3:194118876	0	T	194118876	G	T	194118876	3	4	88	1	0	0	0	0	1	0	0	0	6629	962	34	3	1550	3	GP5	3	194118876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	194118876	3903554	4795	12507											
ACAP2	23527	broad.mit.edu	37	chr3	195013054	195013054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaattggcccagttcacGtctgcaccatgagccaaagc	9	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195013054G>A	ENST00000326793.6	-	19	2123	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	631					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CCCAGTTCACGTCTGCACCAT	0.413													False	0	False	3:195013054	0	A	195013054	G	A	195013054	2	1	88	1	0	0	0	0	0	0	0	1	119	1136	40	1		1	ACAP2	3	195013054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	894178	195013054	3009376	4796	12508											
ACAP2	23527	broad.mit.edu	37	chr3	195022900	195022900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagatgatttcttatccaGcttctaaaagaattaagaat	7	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195022900G>A	ENST00000326793.6	-	14	1350	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	374					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTCTTATCCAGCTTCTAAAAG	0.348													False	0	False	3:195022900	0	A	195022900	G	A	195022900	2	1	88	1	0	0	0	0	0	0	0	1	119	962	34	2		2	ACAP2	3	195022900	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9846	195022900	2999530	4797	12509											
MUC4	4585	broad.mit.edu	37	chr3	195486010	195486010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctaccaaagagctccaagtCggtgcagctgtctctgagcg	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195486010C>T	ENST00000463781.3	-	17	15430	c.14971G>A	c.(14971-14973)Gac>Aac	p.D4991N	MUC4_ENST00000346145.4_Missense_Mutation_p.D755N|MUC4_ENST00000349607.4_Missense_Mutation_p.D704N|MUC4_ENST00000475231.1_Missense_Mutation_p.D4939N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1748					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCTCCAAGTCGGTGCAGCTG	0.532													False	0	False	3:195486010	0	T	195486010	C	T	195486010	3	4	88	1	0	0	0	0	1	0	0	0	10045	884	31	1	1303	1	MUC4	3	195486010	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463110	195486010	2536420	4798	12510											
MUC4	4585	broad.mit.edu	37	chr3	195487809	195487809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttccctcgtgtgaagtcCgatgcttgcgttgcgcaggg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195487809C>T	ENST00000463781.3	-	16	15253	c.14794G>A	c.(14794-14796)Gga>Aga	p.G4932R	MUC4_ENST00000346145.4_Missense_Mutation_p.G696R|MUC4_ENST00000349607.4_Missense_Mutation_p.G645R|MUC4_ENST00000475231.1_Missense_Mutation_p.G4880R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1689					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTGAAGTCCGATGCTTGCG	0.552													False	0	False	3:195487809	0	T	195487809	C	T	195487809	3	4	88	1	0	0	0	0	1	0	0	0	10045	661	23	1	1484	1	MUC4	3	195487809	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1799	195487809	2534621	4799	12511											
MUC4	4585	broad.mit.edu	37	chr3	195515849	195515849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgaaaggtgccggggaCgatcgaagacgccattcctg	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195515849C>T	ENST00000463781.3	-	2	3061	c.2602G>A	c.(2602-2604)Gtc>Atc	p.V868I	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V868I	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	873	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGCCGGGGACGATCGAAGAC	0.592													False	0	False	3:195515849	0	T	195515849	C	T	195515849	3	4	88	1	0	0	0	0	1	0	0	0	10045	536	19	1		1	MUC4	3	195515849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28040	195515849	2506581	4800	12512											
MUC4	4585	broad.mit.edu	37	chr3	195516521	195516521	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgattcttgtgtggtctGcggggcttgagtgtgacccc	15	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195516521G>A	ENST00000463781.3	-	2	2389	c.1930C>T	c.(1930-1932)Cag>Tag	p.Q644*	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q644*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	649					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGTGGTCTGCGGGGCTTGA	0.527													False	0	False	3:195516521	0	A	195516521	G	A	195516521	4	1	88	1	0	0	0	0	0	1	0	0	10045	1328	46	2		2	MUC4	3	195516521	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	672	195516521	2505909	4801	12513											
MUC4	4585	broad.mit.edu	37	chr3	195517585	195517585	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgaggtgactggcataAgacttccagtaacaggtact	11	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195517585A>G	ENST00000463781.3	-	2	1325	c.866T>C	c.(865-867)cTt>cCt	p.L289P	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L289P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	294					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACTGGCATAAGACTTCCAGT	0.458													False	0	False	3:195517585	0	G	195517585	A	G	195517585	3	3	88	1	0	0	0	0	1	0	0	0	10045	72	3	4		4	MUC4	3	195517585	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1064	195517585	2504845	4802	12514											
TNK2	10188	broad.mit.edu	37	chr3	195593780	195593780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggtgggcagggccccaGgagcccagaaggtggcagcc	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195593780G>A	ENST00000333602.6	-	14	3707	c.3090C>T	c.(3088-3090)tcC>tcT	p.S1030S	TNK2_ENST00000381916.2_Silent_p.S1078S|TNK2_ENST00000428187.1_Silent_p.S1032S|TNK2_ENST00000392400.1_Silent_p.S1030S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	1030				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CAGGGCCCCAGGAGCCCAGAA	0.672													False	0	False	3:195593780	0	A	195593780	G	A	195593780	2	1	88	1	0	0	0	0	0	0	0	1	16400	987	35	2		2	TNK2	3	195593780	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76195	195593780	2428650	4803	12515											
TNK2	10188	broad.mit.edu	37	chr3	195593856	195593856	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtggcactcccctctgGgccgcagacccagcccgaag	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195593856G>T	ENST00000333602.6	-	14	3631	c.3014C>A	c.(3013-3015)cCc>cAc	p.P1005H	TNK2_ENST00000381916.2_Missense_Mutation_p.P1053H|TNK2_ENST00000428187.1_Missense_Mutation_p.P1007H|TNK2_ENST00000392400.1_Missense_Mutation_p.P1005H	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	1005				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTCCCCTCTGGGCCGCAGACC	0.677													False	0	True	3:195593856	0	T	195593856	G	T	195593856	3	4	88	1	0	0	0	0	1	0	0	0	16400	1232	43	3	110	3	TNK2	3	195593856	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	195593856	2428574	4804	12516											
TM4SF19	116211	broad.mit.edu	37	chr3	196050725	196050725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaaaaggcccaggaggCtgttgatgacatgaacgacc	13	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196050725C>A	ENST00000446879.1	-	5	714	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S	TM4SF19_ENST00000273695.3_Missense_Mutation_p.S198I|TM4SF19_ENST00000442633.1_Missense_Mutation_p.S198I|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000454715.1_Missense_Mutation_p.S172I|TM4SF19-AS1_ENST00000444939.1_RNA			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	0						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GCCCAGGAGGCTGTTGATGAC	0.547													False	0	False	3:196050725	0	A	196050725	C	A	196050725	3	1	88	1	0	0	0	0	1	0	0	0	16050	797	28	3	40	3	TM4SF19	3	196050725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	456869	196050725	1971705	4805	12517											
RNF168	165918	broad.mit.edu	37	chr3	196214437	196214437	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcctcgctggcccgtcGctctgccgccaccttaaaag	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196214437G>A	ENST00000318037.3	-	3	985	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	131	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGGCCCGTCGCTCTGCCGCC	0.398													False	0	False	3:196214437	0	A	196214437	G	A	196214437	4	1	88	1	0	0	0	0	0	1	0	0	13538	1095	38	1	1340	1	RNF168	3	196214437	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163712	196214437	1807993	4806	12518											
FBXO45	200933	broad.mit.edu	37	chr3	196304505	196304505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggagggccctctgggcaCtgtggcagtgattggaattg	18	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196304505C>T	ENST00000311630.6	+	2	797	c.500C>T	c.(499-501)aCt>aTt	p.T167I	FBXO45_ENST00000440469.1_5'UTR	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	167	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCTCTGGGCACTGTGGCAGTG	0.577													False	0	False	3:196304505	0	T	196304505	C	T	196304505	3	4	88	1	0	0	0	0	1	0	0	0	5794	565	20	2	506	2	FBXO45	3	196304505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90068	196304505	1717925	4807	12519											
PAK2	5062	broad.mit.edu	37	chr3	196509633	196509633	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccaatcacagtttgaaacCtttgccctctgttccagaag	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196509633C>A	ENST00000327134.3	+	2	438	c.116C>A	c.(115-117)cCt>cAt	p.P39H		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	39					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGTTTGAAACCTTTGCCCTCT	0.473													False	0	True	3:196509633	0	A	196509633	C	A	196509633	3	1	88	1	0	0	0	0	1	0	0	0	11469	681	24	3	118	3	PAK2	3	196509633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205128	196509633	1512797	4808	12520											
PAK2	5062	broad.mit.edu	37	chr3	196541366	196541366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtcatggaataccttgCtggggggtcactcactgatg	14	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196541366C>A	ENST00000327134.3	+	11	1302	c.980C>A	c.(979-981)gCt>gAt	p.A327D		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	327	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		GAATACCTTGCTGGGGGGTCA	0.413													False	0	False	3:196541366	0	A	196541366	C	A	196541366	3	1	88	1	0	0	0	0	1	0	0	0	11469	797	28	3	1018	3	PAK2	3	196541366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31733	196541366	1481064	4809	12521											
SENP5	205564	broad.mit.edu	37	chr3	196613102	196613102	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgaccaacagaatggCagtgccacaaacgcctggga	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196613102C>A	ENST00000323460.5	+	2	1299	c.1050C>A	c.(1048-1050)ggC>ggA	p.G350G	SENP5_ENST00000445299.2_Silent_p.G350G|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	350					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AACAGAATGGCAGTGCCACAA	0.488													False	0	False	3:196613102	0	A	196613102	C	A	196613102	2	1	88	1	0	0	0	0	0	0	0	1	14130	697	25	3		3	SENP5	3	196613102	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71736	196613102	1409328	4810	12522											
NCBP2	22916	broad.mit.edu	37	chr3	196666195	196666195	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattttctttatgtcaccacTtttgctgaagagttcataga	7	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196666195T>G	ENST00000321256.5	-	2	280	c.187A>C	c.(187-189)Agt>Cgt	p.S63R	NCBP2_ENST00000427641.2_Intron|NCBP2_ENST00000422610.1_5'UTR|NCBP2_ENST00000452404.2_Missense_Mutation_p.S45R|NCBP2_ENST00000447325.1_5'UTR	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	63	RRM.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		ATGTCACCACTTTTGCTGAAG	0.338													False	0	True	3:196666195	0	G	196666195	T	G	196666195	3	3	88	1	0	0	0	0	1	0	0	0	10280	1609	56	4	295	4	NCBP2	3	196666195	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	53093	196666195	1356235	4811	12523											
PIGZ	80235	broad.mit.edu	37	chr3	196678897	196678897	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctacgctggatccacagatCtgcatctgttgaggataaca	10	10	2	2	rs139328732		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196678897C>T	ENST00000412723.1	-	2	152	c.6G>A	c.(4-6)caG>caA	p.Q2Q	PIGZ_ENST00000443835.1_Silent_p.Q2Q	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	2					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ATCCACAGATCTGCATCTGTT	0.418													False	0	False	3:196678897	0	T	196678897	C	T	196678897	2	4	88	1	0	0	0	0	0	0	0	1	11974	912	32	2		2	PIGZ	3	196678897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12702	196678897	1343533	4812	12524											
DLG1	1739	broad.mit.edu	37	chr3	196921409	196921409	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcacttcatttgtgatttGtggggaaatatgctcttgag	10	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196921409G>A	ENST00000346964.2	-	5	559	c.370C>T	c.(370-372)Caa>Taa	p.Q124*	DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000450955.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000448528.2_Nonsense_Mutation_p.Q124*|DLG1_ENST00000422288.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000357674.4_Nonsense_Mutation_p.Q124*|DLG1_ENST00000419354.1_Nonsense_Mutation_p.Q124*|DLG1_ENST00000314062.3_Nonsense_Mutation_p.Q124*|DLG1_ENST00000392382.2_Nonsense_Mutation_p.Q124*	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	124					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TTTGTGATTTGTGGGGAAATA	0.363													False	0	True	3:196921409	0	A	196921409	G	A	196921409	4	1	88	1	0	0	0	0	0	1	0	0	4584	1386	48	2	2536	2	DLG1	3	196921409	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242512	196921409	1101021	4813	12525											
BDH1	622	broad.mit.edu	37	chr3	197241204	197241204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccaaaggttcacttctgCcacctgcttgtaggtctcca	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197241204C>T	ENST00000392379.1	-	7	894	c.493G>A	c.(493-495)Gca>Aca	p.A165T	BDH1_ENST00000441275.1_Missense_Mutation_p.A78T|BDH1_ENST00000358186.2_Missense_Mutation_p.A165T|BDH1_ENST00000392378.2_Missense_Mutation_p.A165T	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	165					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TTCACTTCTGCCACCTGCTTG	0.592													False	0	False	3:197241204	0	T	197241204	C	T	197241204	3	4	88	1	0	0	0	0	1	0	0	0	1394	739	26	2	546	2	BDH1	3	197241204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319795	197241204	781226	4814	12526											
KIAA0226	9711	broad.mit.edu	37	chr3	197401903	197401903	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttcttcaggtggcctccaGgacggcggcttccagggcca	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197401903G>T	ENST00000273582.5	-	21	3315	c.2770C>A	c.(2770-2772)Ctg>Atg	p.L924M	KIAA0226_ENST00000296343.5_Missense_Mutation_p.L969M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	969	Cys-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GTGGCCTCCAGGACGGCGGCT	0.677													False	0	False	3:197401903	0	T	197401903	G	T	197401903	3	4	88	1	0	0	0	0	1	0	0	0	8212	991	35	3	17	3	KIAA0226	3	197401903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160699	197401903	620527	4815	12527											
KIAA0226	9711	broad.mit.edu	37	chr3	197408002	197408002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttccaaggtcttacccGgacttgattgagcagcttga	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408002G>A	ENST00000273582.5	-	17	2838	c.2293C>T	c.(2293-2295)Cgg>Tgg	p.R765W	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R835W|KIAA0226_ENST00000296343.5_Missense_Mutation_p.R810W	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	810					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GGTCTTACCCGGACTTGATTG	0.562													False	0	True	3:197408002	0	A	197408002	G	A	197408002	3	1	88	1	0	0	0	0	1	0	0	0	8212	1115	39	1	510	1	KIAA0226	3	197408002	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6099	197408002	614428	4816	12528											
KIAA0226	9711	broad.mit.edu	37	chr3	197408180	197408180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatctgggcattctcgtgGcagcactggcagaagtactt	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408180G>A	ENST00000273582.5	-	17	2660	c.2115C>T	c.(2113-2115)tgC>tgT	p.C705C	KIAA0226_ENST00000389665.5_Silent_p.C775C|KIAA0226_ENST00000296343.5_Silent_p.C750C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	750					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	p.C750*(1)|p.C705*(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CATTCTCGTGGCAGCACTGGC	0.527													False	0	False	3:197408180	0	A	197408180	G	A	197408180	2	1	88	1	0	0	0	0	0	0	0	1	8212	1195	42	2		2	KIAA0226	3	197408180	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178	197408180	614250	4817	12529											
KIAA0226	9711	broad.mit.edu	37	chr3	197408739	197408739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgccacatcctgcacagcGgtaattctgcttggccacgg	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408739G>A	ENST00000273582.5	-	16	2568	c.2023C>T	c.(2023-2025)Cgc>Tgc	p.R675C	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R745C|KIAA0226_ENST00000296343.5_Missense_Mutation_p.R720C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	720					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CCTGCACAGCGGTAATTCTGC	0.592													False	0	False	3:197408739	0	A	197408739	G	A	197408739	3	1	88	1	0	0	0	0	1	0	0	0	8212	1116	39	1	784	1	KIAA0226	3	197408739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	559	197408739	613691	4818	12530											
KIAA0226	9711	broad.mit.edu	37	chr3	197431544	197431544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactggcaccatcagcactgCtctggtcgttctcgtgcacg	10	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197431544C>A	ENST00000273582.5	-	4	697	c.152G>T	c.(151-153)aGc>aTc	p.S51I	KIAA0226_ENST00000449205.1_Missense_Mutation_p.S111I|KIAA0226_ENST00000389665.5_Missense_Mutation_p.S111I|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000296343.5_Missense_Mutation_p.S111I	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	111	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ATCAGCACTGCTCTGGTCGTT	0.587													False	0	False	3:197431544	0	A	197431544	C	A	197431544	3	1	88	1	0	0	0	0	1	0	0	0	8212	797	28	3	2703	3	KIAA0226	3	197431544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22805	197431544	590886	4819	12531											
KIAA0226	9711	broad.mit.edu	37	chr3	197431564	197431564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggtcgttctcgtgcacGctgatgaactgggaagcaaa	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197431564G>A	ENST00000273582.5	-	4	677	c.132C>T	c.(130-132)agC>agT	p.S44S	KIAA0226_ENST00000449205.1_Silent_p.S104S|KIAA0226_ENST00000389665.5_Silent_p.S104S|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000296343.5_Silent_p.S104S	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	104					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCTCGTGCACGCTGATGAACT	0.542													False	0	False	3:197431564	0	A	197431564	G	A	197431564	2	1	88	1	0	0	0	0	0	0	0	1	8212	1078	38	1		1	KIAA0226	3	197431564	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	197431564	590866	4820	12532											
LRCH3	84859	broad.mit.edu	37	chr3	197541787	197541787	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcttttagacctgtcgCgaaatcgcctttcagaaatt	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197541787C>T	ENST00000438796.2	+	2	315	c.271C>T	c.(271-273)Cga>Tga	p.R91*	LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R91*|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R91*|LRCH3_ENST00000425562.2_Nonsense_Mutation_p.R91*			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	91						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGACCTGTCGCGAAATCGCCT	0.299													False	0	False	3:197541787	0	T	197541787	C	T	197541787	4	4	88	1	0	0	0	0	0	1	0	0	8996	760	27	1	277	1	LRCH3	3	197541787	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110223	197541787	480643	4821	12533											
LRCH3	84859	broad.mit.edu	37	chr3	197566213	197566213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcaccagtaaagccagtaGccattagggagtttcaaaaa	9	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197566213G>A	ENST00000438796.2	+	10	1317	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	LRCH3_ENST00000414675.2_Missense_Mutation_p.A397T|LRCH3_ENST00000441090.2_Missense_Mutation_p.A271T|LRCH3_ENST00000536618.1_Missense_Mutation_p.A20T|LRCH3_ENST00000334859.4_Missense_Mutation_p.A425T|LRCH3_ENST00000425562.2_Missense_Mutation_p.A425T			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	425						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AAAGCCAGTAGCCATTAGGGA	0.333													False	0	False	3:197566213	0	A	197566213	G	A	197566213	3	1	88	1	0	0	0	0	1	0	0	0	8996	971	34	2	1311	2	LRCH3	3	197566213	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24426	197566213	456217	4822	12534											
IQCG	84223	broad.mit.edu	37	chr3	197665522	197665522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaaactccacagcgaaccGgcctctgtgtctgatttctg	9	12	3	1	rs139671579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197665522G>A	ENST00000265239.6	-	5	836	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	IQCG_ENST00000455191.1_Missense_Mutation_p.R138W|IQCG_ENST00000453254.1_Missense_Mutation_p.R138W	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	138										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ACAGCGAACCGGCCTCTGTGT	0.428													False	0	False	3:197665522	0	A	197665522	G	A	197665522	3	1	88	1	0	0	0	0	1	0	0	0	7860	1115	39	1	951	1	IQCG	3	197665522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99309	197665522	356908	4823	12535											
IQCG	84223	broad.mit.edu	37	chr3	197665544	197665544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgtgtctgatttctggCaagttgggtccttcctcagt	10	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197665544C>T	ENST00000265239.6	-	5	814	c.390G>A	c.(388-390)ttG>ttA	p.L130L	IQCG_ENST00000455191.1_Silent_p.L130L|IQCG_ENST00000453254.1_Silent_p.L130L|IQCG_ENST00000480302.1_5'UTR	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	130										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGATTTCTGGCAAGTTGGGTC	0.433													False	0	False	3:197665544	0	T	197665544	C	T	197665544	2	4	88	1	0	0	0	0	0	0	0	1	7860	709	25	2		2	IQCG	3	197665544	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	197665544	356886	4824	12536											
ZNF718	255403	broad.mit.edu	37	chr4	155444	155444	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaatgtctttaccacatcCtcagactttgctaaacataa	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155444C>A	ENST00000510175.1	+	0	879							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TTACCACATCCTCAGACTTTG	0.398													False	0	False	4:155444	0	A	155444	C	A	155444	1	1	88	0	1	0	0	0	0	0	0	0	18203	668	24	3		3	ZNF718	4	155444	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08		155444	190998832	4825	12537											
ZNF732	654254	broad.mit.edu	37	chr4	265610	265610	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgttcattcagaactgaggAcctactaaaggctttgccac	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:265610A>G	ENST00000419098.1	-	4	1046	c.1036T>C	c.(1036-1038)Tcc>Ccc	p.S346P		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						AGAACTGAGGACCTACTAAAG	0.393													False	0	False	4:265610	0	G	265610	A	G	265610	3	3	88	1	0	0	0	0	1	0	0	0	18206	275	10	4	725	4	ZNF732	4	265610	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	110166	265610	190888666	4826	12538											
ZNF732	654254	broad.mit.edu	37	chr4	266376	266376	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtggaacgaatcttctatCccctgcactggcaaaaagtc	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:266376C>T	ENST00000419098.1	-	4	280	c.270G>A	c.(268-270)ggG>ggA	p.G90G		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						AATCTTCTATCCCCTGCACTG	0.328													False	0	True	4:266376	0	T	266376	C	T	266376	2	4	88	1	0	0	0	0	0	0	0	1	18206	842	30	2		2	ZNF732	4	266376	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	766	266376	190887900	4827	12539											
ZNF141	7700	broad.mit.edu	37	chr4	367647	367647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaacataagaaaattcataCttgagagaaatcctacaaat	4	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367647C>A	ENST00000240499.7	+	4	1570	c.1421C>A	c.(1420-1422)aCt>aAt	p.T474N	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	474					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AAAATTCATACTTGAGAGAAA	0.328													False	0	False	4:367647	0	A	367647	C	A	367647	3	1	88	1	0	0	0	0	1	0	0	0	17813	565	20	3	1435	3	ZNF141	4	367647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101271	367647	190786629	4828	12540											
PIGG	54872	broad.mit.edu	37	chr4	524230	524230	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcttttttaggggtaTtattgaagctcgttttgttt	9	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:524230T>G	ENST00000453061.2	+	11	2373	c.2267T>G	c.(2266-2268)aTt>aGt	p.I756S	PIGG_ENST00000504346.1_Missense_Mutation_p.I667S|PIGG_ENST00000310340.5_Missense_Mutation_p.I748S|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.I623S	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	756					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTTAGGGGTATTATTGAAGCT	0.378													False	0	False	4:524230	0	G	524230	T	G	524230	3	3	88	1	0	0	0	0	1	0	0	0	11957	1493	52	4	2309	4	PIGG	4	524230	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156583	524230	190630046	4829	12541											
PIGG	54872	broad.mit.edu	37	chr4	527709	527709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgacagcgtttgggacgTacgcagggcctgtgctgtgg	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:527709T>C	ENST00000453061.2	+	12	2780	c.2674T>C	c.(2674-2676)Tac>Cac	p.Y892H	PIGG_ENST00000504346.1_Missense_Mutation_p.Y803H|PIGG_ENST00000310340.5_Missense_Mutation_p.Y884H|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.Y759H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	892					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GTTTGGGACGTACGCAGGGCC	0.607													False	0	False	4:527709	0	C	527709	T	C	527709	3	2	88	1	0	0	0	0	1	0	0	0	11957	1638	57	4	2720	4	PIGG	4	527709	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3479	527709	190626567	4830	12542											
PDE6B	5158	broad.mit.edu	37	chr4	619547	619547	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgggtgcccgccggactgCgacagcctccgggacctctg	15	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:619547C>T	ENST00000255622.6	+	1	175	c.132C>T	c.(130-132)tgC>tgT	p.C44C	PDE6B_ENST00000496514.1_Silent_p.C44C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	44					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CGCCGGACTGCGACAGCCTCC	0.632													False	0	False	4:619547	0	T	619547	C	T	619547	2	4	88	1	0	0	0	0	0	0	0	1	11714	776	27	1		1	PDE6B	4	619547	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91838	619547	190534729	4831	12543											
PDE6B	5158	broad.mit.edu	37	chr4	649781	649781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggccttccaagctacgtgGcagaaagcggctttgtgagt	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:649781G>A	ENST00000255622.6	+	7	1088	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T	PDE6B_ENST00000496514.1_Missense_Mutation_p.A349T|PDE6B_ENST00000429163.2_Missense_Mutation_p.A70T	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	349	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AAGCTACGTGGCAGAAAGCGG	0.647													False	0	False	4:649781	0	A	649781	G	A	649781	3	1	88	1	0	0	0	0	1	0	0	0	11714	1203	42	2	1071	2	PDE6B	4	649781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30234	649781	190504495	4832	12544											
PDE6B	5158	broad.mit.edu	37	chr4	655986	655986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatcacctaccacaactggCgccacggcttcaacgtggcc	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:655986C>T	ENST00000255622.6	+	13	1721	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	PDE6B_ENST00000429163.2_Missense_Mutation_p.R281C|PDE6B_ENST00000496514.1_Missense_Mutation_p.R560C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	560					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CCACAACTGGCGCCACGGCTT	0.622													False	0	False	4:655986	0	T	655986	C	T	655986	3	4	88	1	0	0	0	0	1	0	0	0	11714	768	27	1	1728	1	PDE6B	4	655986	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6205	655986	190498290	4833	12545											
PDE6B	5158	broad.mit.edu	37	chr4	661780	661780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggaggaggaggagaggGtggcagccaagaaaggtctg	20	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:661780G>A	ENST00000255622.6	+	21	2531	c.2488G>A	c.(2488-2490)Gtg>Atg	p.V830M	PDE6B_ENST00000429163.2_Missense_Mutation_p.V551M|PDE6B_ENST00000496514.1_Missense_Mutation_p.V830M	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	830					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGAGGAGAGGGTGGCAGCCAA	0.552													False	0	True	4:661780	0	A	661780	G	A	661780	3	1	88	1	0	0	0	0	1	0	0	0	11714	1261	44	2	2570	2	PDE6B	4	661780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5794	661780	190492496	4834	12546											
MFSD7	84179	broad.mit.edu	37	chr4	676148	676148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaggtgcacaggccggCcatcagcagcagagacactg	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:676148C>T	ENST00000322224.4	-	10	1592	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T	MFSD7_ENST00000515118.1_Missense_Mutation_p.A331T|MFSD7_ENST00000347950.5_Missense_Mutation_p.A309T|MFSD7_ENST00000404286.2_Missense_Mutation_p.A428T|MFSD7_ENST00000503156.1_Intron			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	428					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CACAGGCCGGCCATCAGCAGC	0.647													False	0	True	4:676148	0	T	676148	C	T	676148	3	4	88	1	0	0	0	0	1	0	0	0	9604	739	26	2	404	2	MFSD7	4	676148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14368	676148	190478128	4835	12547											
MFSD7	84179	broad.mit.edu	37	chr4	676654	676654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcagtgccgtcattgccaGcatgatgagtattccctcgg	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:676654G>A	ENST00000322224.4	-	9	1490	c.1177C>T	c.(1177-1179)Ctg>Ttg	p.L393L	MFSD7_ENST00000515118.1_Silent_p.L297L|MFSD7_ENST00000347950.5_Silent_p.L275L|MFSD7_ENST00000404286.2_Silent_p.L394L|MFSD7_ENST00000503156.1_Silent_p.L329L			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	394					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GTCATTGCCAGCATGATGAGT	0.642													False	0	False	4:676654	0	A	676654	G	A	676654	2	1	88	1	0	0	0	0	0	0	0	1	9604	962	34	2		2	MFSD7	4	676654	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506	676654	190477622	4836	12548											
PCGF3	10336	broad.mit.edu	37	chr4	727471	727471	+	Translation_Start_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgtagaagccaaagaTgttgaccaggaagatcaagc	10	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:727471T>C	ENST00000362003.5	+	4	397	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PCGF3_ENST00000505655.2_Start_Codon_SNP_p.M1T|PCGF3_ENST00000482726.1_3'UTR|PCGF3_ENST00000521023.2_5'UTR|PCGF3_ENST00000470161.2_Start_Codon_SNP_p.M1T|PCGF3_ENST00000400151.2_Start_Codon_SNP_p.M1T	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						AAGCCAAAGATGTTGACCAGG	0.552													False	0	False	4:727471	0	C	727471	T	C	727471	1	2	88	1	0	0	0	0	0	0	0	0	11644	1464	51	4		4	PCGF3	4	727471	Translation_Start_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50817	727471	190426805	4837	12549											
GAK	2580	broad.mit.edu	37	chr4	845593	845593	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccccgatcacactgaagttCgaggcatagttaggccttgg	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:845593C>T	ENST00000314167.4	-	25	3563	c.3453G>A	c.(3451-3453)tcG>tcA	p.S1151S	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.S1072S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1151					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.S1151S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CACTGAAGTTCGAGGCATAGT	0.667													False	0	False	4:845593	0	T	845593	C	T	845593	2	4	88	1	0	0	0	0	0	0	0	1	6238	871	31	1		1	GAK	4	845593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118122	845593	190308683	4838	12550											
GAK	2580	broad.mit.edu	37	chr4	845717	845717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcctttgggcgtggtgGccgttttgggaatgaagccc	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:845717G>A	ENST00000314167.4	-	25	3439	c.3329C>T	c.(3328-3330)gCc>gTc	p.A1110V	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.A1031V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1110					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGCGTGGTGGCCGTTTTGGG	0.642													False	0	False	4:845717	0	A	845717	G	A	845717	3	1	88	1	0	0	0	0	1	0	0	0	6238	1203	42	2	622	2	GAK	4	845717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124	845717	190308559	4839	12551											
GAK	2580	broad.mit.edu	37	chr4	860197	860197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgggggcggagcactgtGggcagacgggaaggatggtg	23	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:860197G>A	ENST00000314167.4	-	22	3108	c.2998C>T	c.(2998-3000)Cac>Tac	p.H1000Y	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.H921Y	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1000					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGAGCACTGTGGGCAGACGGG	0.627													False	0	True	4:860197	0	A	860197	G	A	860197	3	1	88	1	0	0	0	0	1	0	0	0	6238	1348	47	2	965	2	GAK	4	860197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14480	860197	190294079	4840	12552											
GAK	2580	broad.mit.edu	37	chr4	871406	871406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagctgcactcaccgcAtcttgtcgtactcctgggag	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:871406A>G	ENST00000314167.4	-	16	1963	c.1853T>C	c.(1852-1854)aTg>aCg	p.M618T	GAK_ENST00000511163.1_Missense_Mutation_p.M539T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	618	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CACTCACCGCATCTTGTCGTA	0.652													False	0	False	4:871406	0	G	871406	A	G	871406	3	3	88	1	0	0	0	0	1	0	0	0	6238	217	8	4	2134	4	GAK	4	871406	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11209	871406	190282870	4841	12553											
GAK	2580	broad.mit.edu	37	chr4	877192	877192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggagtccaggaacaaccGcacatcttcgatgttgtttt	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:877192G>A	ENST00000314167.4	-	13	1425	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W	GAK_ENST00000511163.1_Missense_Mutation_p.R360W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	439	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGGAACAACCGCACATCTTCG	0.577													False	0	False	4:877192	0	A	877192	G	A	877192	3	1	88	1	0	0	0	0	1	0	0	0	6238	1086	38	1	2684	1	GAK	4	877192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5786	877192	190277084	4842	12554											
GAK	2580	broad.mit.edu	37	chr4	887739	887739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgactattcgaagtttcGctccatcctcaaaagggtgc	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:887739G>A	ENST00000314167.4	-	8	910	c.800C>T	c.(799-801)gCg>gTg	p.A267V	GAK_ENST00000511163.1_Missense_Mutation_p.A188V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	267	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCGAAGTTTCGCTCCATCCTC	0.612													False	0	False	4:887739	0	A	887739	G	A	887739	3	1	88	1	0	0	0	0	1	0	0	0	6238	1087	38	1	3219	1	GAK	4	887739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10547	887739	190266537	4843	12555											
TMEM175	84286	broad.mit.edu	37	chr4	944245	944245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagaggcttctggcaacaCggattgccgtctacctgatg	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:944245C>T	ENST00000264771.4	+	4	414	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	TMEM175_ENST00000508204.1_5'UTR|TMEM175_ENST00000515740.1_5'UTR|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	77						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCTGGCAACACGGATTGCCGT	0.577													False	0	False	4:944245	0	T	944245	C	T	944245	3	4	88	1	0	0	0	0	1	0	0	0	16173	527	19	1	239	1	TMEM175	4	944245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56506	944245	190210031	4844	12556											
TMEM175	84286	broad.mit.edu	37	chr4	947071	947071	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtaccgacgacacgtcCtgggcatcgtcctccaaggc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:947071C>A	ENST00000264771.4	+	8	741	c.556C>A	c.(556-558)Ctg>Atg	p.L186M	TMEM175_ENST00000508204.1_Missense_Mutation_p.L104M|TMEM175_ENST00000515740.1_Missense_Mutation_p.L70M|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	186						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGACACGTCCTGGGCATCGT	0.647													False	0	False	4:947071	0	A	947071	C	A	947071	3	1	88	1	0	0	0	0	1	0	0	0	16173	680	24	3	582	3	TMEM175	4	947071	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2826	947071	190207205	4845	12557											
TMEM175	84286	broad.mit.edu	37	chr4	952124	952124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcttccacctcatgcAgatcgccgtgccctgcgcct	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:952124A>G	ENST00000264771.4	+	11	1540	c.1355A>G	c.(1354-1356)cAg>cGg	p.Q452R	TMEM175_ENST00000508204.1_Missense_Mutation_p.Q370R|TMEM175_ENST00000515740.1_Missense_Mutation_p.Q336R	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	452						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CACCTCATGCAGATCGCCGTG	0.697													False	0	False	4:952124	0	G	952124	A	G	952124	3	3	88	1	0	0	0	0	1	0	0	0	16173	188	7	4	1393	4	TMEM175	4	952124	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5053	952124	190202152	4846	12558											
DGKQ	1609	broad.mit.edu	37	chr4	956377	956377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgtagcccgccccccagCggaggactcgaccaaggtca	12	17	1	0	rs140567391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:956377C>T	ENST00000273814.3	-	18	2133	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	687	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCCCCCAGCGGAGGACTCG	0.652													False	0	False	4:956377	0	T	956377	C	T	956377	3	4	88	1	0	0	0	0	1	0	0	0	4503	768	27	1	792	1	DGKQ	4	956377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4253	956377	190197899	4847	12559											
DGKQ	1609	broad.mit.edu	37	chr4	962266	962266	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggggccggtacactcaCgtgatcctggtgcccatcct	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:962266C>T	ENST00000273814.3	-	4	611		c.e4+1			NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTACACTCACGTGATCCTGG	0.701													False	0	False	4:962266	0	T	962266	C	T	962266	5	4	88	1	0	0	0	0	0	0	1	0	4503	550	19	1	2370	1	DGKQ	4	962266	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5889	962266	190192010	4848	12560											
IDUA	3425	broad.mit.edu	37	chr4	995495	995495	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactactacgatgcctgctcGgagggtctgcgcgccgccag	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:995495G>A	ENST00000453894.1	+	5	565	c.477G>A	c.(475-477)tcG>tcA	p.S159S	IDUA_ENST00000514224.1_Silent_p.S74S|IDUA_ENST00000247933.4_Silent_p.S206S			P35475	IDUA_HUMAN	iduronidase, alpha-L-	206					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	ATGCCTGCTCGGAGGGTCTGC	0.716													False	0	False	4:995495	0	A	995495	G	A	995495	2	1	88	1	0	0	0	0	0	0	0	1	7554	1103	39	1		1	IDUA	4	995495	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33229	995495	190158781	4849	12561											
FGFRL1	53834	broad.mit.edu	37	chr4	1018897	1018897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggggacggcccgcgaccGcagcggagacaaggaccttc	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1018897G>A	ENST00000398484.2	+	8	1857	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	FGFRL1_ENST00000504138.1_Missense_Mutation_p.R426H|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R426H|FGFRL1_ENST00000264748.6_Missense_Mutation_p.R426H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	426					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCGCGACCGCAGCGGAGAC	0.726													False	0	False	4:1018897	0	A	1018897	G	A	1018897	3	1	88	1	0	0	0	0	1	0	0	0	5909	1087	38	1	1299	1	FGFRL1	4	1018897	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23402	1018897	190135379	4850	12562											
RNF212	285498	broad.mit.edu	37	chr4	1066789	1066789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggccctttgtacctcagcaTatattggaagtgttttagag	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1066789T>C	ENST00000433731.2	-	10	828	c.767A>G	c.(766-768)tAt>tGt	p.Y256C	RNF212_ENST00000382968.5_3'UTR			Q495C1	RN212_HUMAN	ring finger protein 212	256							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TACCTCAGCATATATTGGAAG	0.527											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	4:1066789	0	C	1066789	T	C	1066789	3	2	88	1	0	0	0	0	1	0	0	0	13555	1406	49	4	130	4	RNF212	4	1066789	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47892	1066789	190087487	4851	12563											
SPON2	10417	broad.mit.edu	37	chr4	1165096	1165096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccgccgacgtctgcccGgtgccgctggggacggcggg	18	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1165096G>A	ENST00000290902.5	-	3	731	c.399C>T	c.(397-399)acC>acT	p.T133T	SPON2_ENST00000431380.1_Silent_p.T133T	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	133	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		ACGTCTGCCCGGTGCCGCTGG	0.791													False	0	True	4:1165096	0	A	1165096	G	A	1165096	2	1	88	1	0	0	0	0	0	0	0	1	15165	1103	39	1		1	SPON2	4	1165096	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98307	1165096	189989180	4852	12564											
MAEA	10296	broad.mit.edu	37	chr4	1305803	1305803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacaaacgctttcgcgccGctcagaagaacattgaccgg	10	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1305803G>A	ENST00000303400.4	+	2	169	c.106G>A	c.(106-108)Gct>Act	p.A36T	MAEA_ENST00000264750.6_Missense_Mutation_p.A36T|MAEA_ENST00000505177.2_Missense_Mutation_p.A36T|MAEA_ENST00000514708.1_Missense_Mutation_p.A36T|MAEA_ENST00000510794.1_Missense_Mutation_p.A35T|MAEA_ENST00000452175.2_Missense_Mutation_p.A25T|MAEA_ENST00000505839.1_5'UTR	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	36	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	p.A36T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CTTTCGCGCCGCTCAGAAGAA	0.642													False	0	False	4:1305803	0	A	1305803	G	A	1305803	3	1	88	1	0	0	0	0	1	0	0	0	9216	1087	38	1	112	1	MAEA	4	1305803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140707	1305803	189848473	4853	12565											
FAM53A	152877	broad.mit.edu	37	chr4	1657352	1657352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagacccatggtgtgagCggcagcagacaggcccggca	15	12	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1657352C>T	ENST00000308132.6	-	4	427	c.235G>A	c.(235-237)Gct>Act	p.A79T	FAM53A_ENST00000472884.2_Missense_Mutation_p.A79T|FAM53A_ENST00000489363.1_Missense_Mutation_p.A79T|FAM53A_ENST00000461064.1_Missense_Mutation_p.A79T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	79						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			ATGGTGTGAGCGGCAGCAGAC	0.667													False	0	False	4:1657352	0	T	1657352	C	T	1657352	3	4	88	1	0	0	0	0	1	0	0	0	5619	768	27	1	969	1	FAM53A	4	1657352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	351549	1657352	189496924	4854	12566											
FGFR3	2261	broad.mit.edu	37	chr4	1801214	1801214	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccggcagcggctcacgCagcgcgtactgtgccacttc	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1801214C>T	ENST00000340107.4	+	3	599	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	FGFR3_ENST00000352904.1_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000481110.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000260795.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000440486.2_Nonsense_Mutation_p.Q115*|FGFR3_ENST00000412135.2_Nonsense_Mutation_p.Q115*	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	115	Ig-like C2-type 1.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GCGGCTCACGCAGCGCGTACT	0.697		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				False	0	False	4:1801214	0	T	1801214	C	T	1801214	4	4	88	1	0	0	0	0	0	1	0	0	5907	711	25	2	349	2	FGFR3	4	1801214	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143862	1801214	189353062	4855	12567											
FGFR3	2261	broad.mit.edu	37	chr4	1805440	1805440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggcgggcgctaacaccaccGacaaggagctagaggttctc	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1805440G>A	ENST00000440486.2	+	8	1208	c.952G>A	c.(952-954)Gac>Aac	p.D318N	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.D318N|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.D318N|FGFR3_ENST00000412135.2_Intron	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	318	Ig-like C2-type 3.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TAACACCACCGACAAGGAGCT	0.607		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				False	0	False	4:1805440	0	A	1805440	G	A	1805440	3	1	88	1	0	0	0	0	1	0	0	0	5907	1058	37	1	1133	1	FGFR3	4	1805440	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4226	1805440	189348836	4856	12568											
FGFR3	2261	broad.mit.edu	37	chr4	1805556	1805556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactctgcgtggctggtggtGctgccaggtaccggcttctg	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1805556G>A	ENST00000440486.2	+	8	1324	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000481110.2_Silent_p.V356V|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000260795.2_Silent_p.V356V|FGFR3_ENST00000412135.2_Intron	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	356					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCTGGTGGTGCTGCCAGGTA	0.617		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				False	0	False	4:1805556	0	A	1805556	G	A	1805556	2	1	88	1	0	0	0	0	0	0	0	1	5907	1306	46	2		2	FGFR3	4	1805556	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116	1805556	189348720	4857	12569											
FGFR3	2261	broad.mit.edu	37	chr4	1807392	1807392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgggcgcctgcacgcaGggcggtaggtgcggtagcgg	20	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1807392G>A	ENST00000340107.4	+	12	1903	c.1647G>A	c.(1645-1647)caG>caA	p.Q549Q	FGFR3_ENST00000352904.1_Silent_p.Q435Q|FGFR3_ENST00000481110.2_Silent_p.Q548Q|FGFR3_ENST00000260795.2_Silent_p.Q547Q|FGFR3_ENST00000440486.2_Silent_p.Q547Q|FGFR3_ENST00000412135.2_Silent_p.Q435Q	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	547	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTGCACGCAGGGCGGTAGGT	0.647		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				False	0	True	4:1807392	0	A	1807392	G	A	1807392	2	1	88	1	0	0	0	0	0	0	0	1	5907	991	35	2		2	FGFR3	4	1807392	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1836	1807392	189346884	4858	12570											
FGFR3	2261	broad.mit.edu	37	chr4	1808341	1808341	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgtaccccggcatccctgTggaggagctcttcaagctgc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1808341T>C	ENST00000340107.4	+	16	2361	c.2105T>C	c.(2104-2106)gTg>gCg	p.V702A	FGFR3_ENST00000352904.1_Missense_Mutation_p.V588A|FGFR3_ENST00000481110.2_Silent_p.C677C|FGFR3_ENST00000260795.2_Missense_Mutation_p.V700A|FGFR3_ENST00000440486.2_Missense_Mutation_p.V700A|FGFR3_ENST00000412135.2_Missense_Mutation_p.V588A	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	700	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCATCCCTGTGGAGGAGCTC	0.647		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				False	0	False	4:1808341	0	C	1808341	T	C	1808341	3	2	88	1	0	0	0	0	1	0	0	0	5907	1696	59	4	2312	4	FGFR3	4	1808341	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	949	1808341	189345935	4859	12571											
LETM1	3954	broad.mit.edu	37	chr4	1824770	1824770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctcctgctggatggccGcctcctcctgcagcgtggcc	14	16	0	0	rs139115587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1824770G>A	ENST00000302787.2	-	9	1717	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	474					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CTGGATGGCCGCCTCCTCCTG	0.657													False	0	True	4:1824770	0	A	1824770	G	A	1824770	3	1	88	1	0	0	0	0	1	0	0	0	8785	1087	38	1	822	1	LETM1	4	1824770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16429	1824770	189329506	4860	12572											
WHSC1	7468	broad.mit.edu	37	chr4	1918684	1918684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttgagaagagcctcgtaGcttttgaaggagaaggacag	13	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1918684G>A	ENST00000503128.1	+	4	1054	c.847G>A	c.(847-849)Gct>Act	p.A283T	WHSC1_ENST00000420906.2_Missense_Mutation_p.A283T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A283T|WHSC1_ENST00000382891.5_Missense_Mutation_p.A283T|WHSC1_ENST00000398261.1_Missense_Mutation_p.A283T|WHSC1_ENST00000382892.2_Missense_Mutation_p.A283T|WHSC1_ENST00000382895.3_Missense_Mutation_p.A283T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A283T			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	283	PWWP 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAGCCTCGTAGCTTTTGAAGG	0.433			T	IGH@	MM								False	0	False	4:1918684	0	A	1918684	G	A	1918684	3	1	88	1	0	0	0	0	1	0	0	0	17446	971	34	2	857	2	WHSC1	4	1918684	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93914	1918684	189235592	4861	12573											
NAT8L	339983	broad.mit.edu	37	chr4	2062757	2062757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgagccgctcgctgctgCtgacgtgcctggtgccggcc	15	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2062757C>T	ENST00000423729.2	+	2	409	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	NAT8L_ENST00000331662.3_5'UTR	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	137						integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTCGCTGCTGCTGACGTGCCT	0.746													False	0	True	4:2062757	0	T	2062757	C	T	2062757	2	4	88	1	0	0	0	0	0	0	0	1	10248	796	28	2		2	NAT8L	4	2062757	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144073	2062757	189091519	4862	12574											
NAT8L	339983	broad.mit.edu	37	chr4	2065708	2065708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacggccgtcaaggtggccGcccacaagctctacgagtcg	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2065708G>A	ENST00000423729.2	+	3	763	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	NAT8L_ENST00000331662.3_Missense_Mutation_p.A87T	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	255	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CAAGGTGGCCGCCCACAAGCT	0.662													False	0	True	4:2065708	0	A	2065708	G	A	2065708	3	1	88	1	0	0	0	0	1	0	0	0	10248	1087	38	1	773	1	NAT8L	4	2065708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2951	2065708	189088568	4863	12575											
POLN	353497	broad.mit.edu	37	chr4	2130966	2130966	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggccctcggggagatcgtgaGaatcttgtcttctttacctg	12	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2130966G>A	ENST00000511885.2	-	18	2160	c.1807C>T	c.(1807-1809)Ctc>Ttc	p.L603F	POLN_ENST00000382865.1_Missense_Mutation_p.L603F			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	603					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GAGATCGTGAGAATCTTGTCT	0.388								DNA polymerases (catalytic subunits)					False	0	False	4:2130966	0	A	2130966	G	A	2130966	3	1	88	1	0	0	0	0	1	0	0	0	12276	942	33	2	931	2	POLN	4	2130966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65258	2130966	189023310	4864	12576											
HAUS3	79441	broad.mit.edu	37	chr4	2242216	2242216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatcattgcatttagaattCcttgactctgcttcagcttt	6	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2242216C>T	ENST00000243706.4	-	2	687	c.458G>A	c.(457-459)gGa>gAa	p.G153E	HAUS3_ENST00000443786.2_Missense_Mutation_p.G153E|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.G153E|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	153					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATTTAGAATTCCTTGACTCTG	0.353													False	0	False	4:2242216	0	T	2242216	C	T	2242216	3	4	88	1	0	0	0	0	1	0	0	0	7014	855	30	2	1369	2	HAUS3	4	2242216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111250	2242216	188912060	4865	12577											
MXD4	10608	broad.mit.edu	37	chr4	2252274	2252274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagagggcacgggcctaCgagagggcggggcggcccag	21	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2252274C>T	ENST00000337190.2	-	6	940	c.627G>A	c.(625-627)tcG>tcA	p.S209S		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	209					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CACGGGCCTACGAGAGGGCGG	0.716													False	0	False	4:2252274	0	T	2252274	C	T	2252274	2	4	88	1	0	0	0	0	0	0	0	1	10068	523	19	1		1	MXD4	4	2252274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10058	2252274	188902002	4866	12578											
MXD4	10608	broad.mit.edu	37	chr4	2263663	2263663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgatccctgcgctccagGtactcggccgcctccagcag	10	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2263663G>A	ENST00000337190.2	-	1	358	c.45C>T	c.(43-45)taC>taT	p.Y15Y	MXD4_ENST00000515378.1_5'UTR	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	15	Interaction with SIN3A and SIN3B (By similarity).				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TGCGCTCCAGGTACTCGGCCG	0.801													False	0	False	4:2263663	0	A	2263663	G	A	2263663	2	1	88	1	0	0	0	0	0	0	0	1	10068	1256	44	2		2	MXD4	4	2263663	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11389	2263663	188890613	4867	12579											
RNF4	6047	broad.mit.edu	37	chr4	2502385	2502385	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaatactttcttttgaaGctggagatgaaattgtggac	10	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2502385G>A	ENST00000511600.1	+	4	1639		c.e4-1		RNF4_ENST00000541204.1_Splice_Site|RNF4_ENST00000506706.1_Splice_Site|RNF4_ENST00000509258.1_Splice_Site|RNF4_ENST00000511859.1_Splice_Site|RNF4_ENST00000511843.1_Splice_Site|RNF4_ENST00000314289.8_Splice_Site			P78317	RNF4_HUMAN	ring finger protein 4						androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				TTCTTTTGAAGCTGGAGATGA	0.398													False	0	False	4:2502385	0	A	2502385	G	A	2502385	5	1	88	1	0	0	0	0	0	0	1	0	13571	985	34	2	134	2	RNF4	4	2502385	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238722	2502385	188651891	4868	12580											
TNIP2	79155	broad.mit.edu	37	chr4	2747209	2747209	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaacagtcgattttcttcCtgcaacttctcaataacact	3	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2747209C>A	ENST00000510267.1	-	3	727	c.300G>T	c.(298-300)caG>caT	p.Q100H	TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000315423.7_Missense_Mutation_p.Q207H|TNIP2_ENST00000503235.1_Missense_Mutation_p.Q207H	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	207						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATTTTCTTCCTGCAACTTCT	0.448													False	0	False	4:2747209	0	A	2747209	C	A	2747209	3	1	88	1	0	0	0	0	1	0	0	0	16397	680	24	3	684	3	TNIP2	4	2747209	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244824	2747209	188407067	4869	12581											
NOP14	8602	broad.mit.edu	37	chr4	2964855	2964855	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcgccccccgcttaccttCctgagggcccgtgcgcgaga	13	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2964855C>T	ENST00000416614.2	-	1	257	c.192G>A	c.(190-192)agG>agA	p.R64R	NOP14_ENST00000502735.1_Silent_p.R64R|NOP14_ENST00000314262.6_Silent_p.R64R|NOP14_ENST00000398071.4_Silent_p.R64R			P78316	NOP14_HUMAN	NOP14 nucleolar protein	64					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CGCTTACCTTCCTGAGGGCCC	0.672													False	0	False	4:2964855	0	T	2964855	C	T	2964855	2	4	88	1	0	0	0	0	0	0	0	1	10604	854	30	2		2	NOP14	4	2964855	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217646	2964855	188189421	4870	12582											
HTT	3064	broad.mit.edu	37	chr4	3133503	3133503	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaccacggaataccctgGtatgttaaaagttcacatct	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3133503G>A	ENST00000355072.5	+	16	2381		c.e16+1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAATACCCTGGTATGTTAAAA	0.403													False	0	False	4:3133503	0	A	3133503	G	A	3133503	5	1	88	1	0	0	0	0	0	0	1	0	7507	1275	44	2	2299	2	HTT	4	3133503	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168648	3133503	188020773	4871	12583											
HTT	3064	broad.mit.edu	37	chr4	3142376	3142376	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatttctccgtcagcacaAtaaccaggtatgctgaccca	6	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3142376A>C	ENST00000355072.5	+	22	3083	c.2938A>C	c.(2938-2940)Ata>Cta	p.I980L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	980					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CGTCAGCACAATAACCAGGTA	0.443													False	0	False	4:3142376	0	C	3142376	A	C	3142376	3	2	88	1	0	0	0	0	1	0	0	0	7507	101	4	4	3024	4	HTT	4	3142376	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8873	3142376	188011900	4872	12584											
HTT	3064	broad.mit.edu	37	chr4	3144596	3144596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgaactaatcacatcaAccaccagagcactcacagta	4	14	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3144596A>G	ENST00000355072.5	+	23	3194	c.3049A>G	c.(3049-3051)Acc>Gcc	p.T1017A		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1017					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AATCACATCAACCACCAGAGC	0.383													False	0	False	4:3144596	0	G	3144596	A	G	3144596	3	3	88	1	0	0	0	0	1	0	0	0	7507	43	2	4	3139	4	HTT	4	3144596	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2220	3144596	188009680	4873	12585											
HTT	3064	broad.mit.edu	37	chr4	3146887	3146887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcttctcagtttggatgCtgtgaagctttgtgtcttct	9	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3146887C>T	ENST00000355072.5	+	24	3220	c.3075C>T	c.(3073-3075)tgC>tgT	p.C1025C		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1025					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGTTTGGATGCTGTGAAGCTT	0.353													False	0	False	4:3146887	0	T	3146887	C	T	3146887	2	4	88	1	0	0	0	0	0	0	0	1	7507	805	28	2		2	HTT	4	3146887	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2291	3146887	188007389	4874	12586											
HTT	3064	broad.mit.edu	37	chr4	3240630	3240630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaacttcacgcagagggCcccggtcgccatggccacgt	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3240630C>T	ENST00000355072.5	+	66	9285	c.9140C>T	c.(9139-9141)gCc>gTc	p.A3047V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	3047					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACGCAGAGGGCCCCGGTCGCC	0.642													False	0	True	4:3240630	0	T	3240630	C	T	3240630	3	4	88	1	0	0	0	0	1	0	0	0	7507	739	26	2	9402	2	HTT	4	3240630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93743	3240630	187913646	4875	12587											
RGS12	6002	broad.mit.edu	37	chr4	3317942	3317942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgcccattgcctgggccGtcgcccccaagggtgcggag	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3317942G>A	ENST00000336727.3	+	2	949	c.45G>A	c.(43-45)ccG>ccA	p.P15P	RGS12_ENST00000382788.3_Silent_p.P15P|RGS12_ENST00000543385.1_Silent_p.P15P|RGS12_ENST00000344733.5_Silent_p.P15P	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	15						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCCTGGGCCGTCGCCCCCAA	0.602													False	0	False	4:3317942	0	A	3317942	G	A	3317942	2	1	88	1	0	0	0	0	0	0	0	1	13374	1132	40	1		1	RGS12	4	3317942	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77312	3317942	187836334	4876	12588											
RGS12	6002	broad.mit.edu	37	chr4	3318639	3318639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttccacgagctccaacctgGagtccgacagcttgcaagcc	9	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3318639G>A	ENST00000336727.3	+	2	1646	c.742G>A	c.(742-744)Gag>Aag	p.E248K	RGS12_ENST00000382788.3_Missense_Mutation_p.E248K|RGS12_ENST00000543385.1_Missense_Mutation_p.E248K|RGS12_ENST00000344733.5_Missense_Mutation_p.E248K	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	248	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTCCAACCTGGAGTCCGACAG	0.537													False	0	False	4:3318639	0	A	3318639	G	A	3318639	3	1	88	1	0	0	0	0	1	0	0	0	13374	1175	41	2	744	2	RGS12	4	3318639	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	697	3318639	187835637	4877	12589											
RGS12	6002	broad.mit.edu	37	chr4	3318679	3318679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccgcggctgcatgcggcGcctgcgggcagagcagaaaa	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3318679G>A	ENST00000336727.3	+	2	1686	c.782G>A	c.(781-783)cGc>cAc	p.R261H	RGS12_ENST00000382788.3_Missense_Mutation_p.R261H|RGS12_ENST00000543385.1_Missense_Mutation_p.R261H|RGS12_ENST00000344733.5_Missense_Mutation_p.R261H	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	261	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCATGCGGCGCCTGCGGGCA	0.597													False	0	False	4:3318679	0	A	3318679	G	A	3318679	3	1	88	1	0	0	0	0	1	0	0	0	13374	1087	38	1	784	1	RGS12	4	3318679	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40	3318679	187835597	4878	12590											
RGS12	6002	broad.mit.edu	37	chr4	3432402	3432402	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaccagcccgggctcagcCtccagcccccctggacctcc	8	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3432402C>A	ENST00000336727.3	+	17	4738	c.3834C>A	c.(3832-3834)gcC>gcA	p.A1278A	RGS12_ENST00000338806.4_Silent_p.A630A|RGS12_ENST00000382788.3_Silent_p.A1278A|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000344733.5_Silent_p.A1278A	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1278						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGGGCTCAGCCTCCAGCCCCC	0.741													False	0	False	4:3432402	0	A	3432402	C	A	3432402	2	1	88	1	0	0	0	0	0	0	0	1	13374	668	24	3		3	RGS12	4	3432402	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113723	3432402	187721874	4879	12591											
RGS12	6002	broad.mit.edu	37	chr4	3441290	3441290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcatagcgggggcacaggCtggccctgggaggtcgcagg	20	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3441290C>A	ENST00000344733.5	+	18	5127	c.4223C>A	c.(4222-4224)gCt>gAt	p.A1408D	RGS12_ENST00000338806.4_Missense_Mutation_p.A760D	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1408						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGGCACAGGCTGGCCCTGGG	0.662													False	0	False	4:3441290	0	A	3441290	C	A	3441290	3	1	88	1	0	0	0	0	1	0	0	0	13374	797	28	3	4364	3	RGS12	4	3441290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8888	3441290	187712986	4880	12592											
HGFAC	3083	broad.mit.edu	37	chr4	3446679	3446679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacgtggactccgtgggCgccgcggccctgctgggcct	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3446679C>T	ENST00000382774.3	+	8	1090	c.975C>T	c.(973-975)ggC>ggT	p.G325G	HGFAC_ENST00000511533.1_Silent_p.G325G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	325	Kringle.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACTCCGTGGGCGCCGCGGCCC	0.716													False	0	True	4:3446679	0	T	3446679	C	T	3446679	2	4	88	1	0	0	0	0	0	0	0	1	7133	755	27	1		1	HGFAC	4	3446679	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5389	3446679	187707597	4881	12593											
DOK7	285489	broad.mit.edu	37	chr4	3495172	3495172	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccacgcggggccacccccgGctttcttttcggcatgtcca	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3495172G>T	ENST00000340083.5	+	7	1524	c.1459G>T	c.(1459-1461)Gct>Tct	p.A487S	DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_Missense_Mutation_p.A487S	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	487					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCACCCCCGGCTTTCTTTTC	0.692													False	0	True	4:3495172	0	T	3495172	G	T	3495172	3	4	88	1	0	0	0	0	1	0	0	0	4732	1203	42	3	1485	3	DOK7	4	3495172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48493	3495172	187659104	4882	12594											
ADRA2C	152	broad.mit.edu	37	chr4	3768871	3768871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgtgtggctcatctcgGccgtcatctccttcccgccg	11	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3768871G>A	ENST00000330055.5	+	1	747	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	ADRA2C_ENST00000509482.1_Missense_Mutation_p.A180T	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	180					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GCTCATCTCGGCCGTCATCTC	0.677													False	0	False	4:3768871	0	A	3768871	G	A	3768871	3	1	88	1	0	0	0	0	1	0	0	0	339	1203	42	2	540	2	ADRA2C	4	3768871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273699	3768871	187385405	4883	12595											
ADRA2C	152	broad.mit.edu	37	chr4	3768908	3768908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctggtctcgctctaccGccagcccgacggcgccgcct	12	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3768908G>A	ENST00000330055.5	+	1	784	c.575G>A	c.(574-576)cGc>cAc	p.R192H	ADRA2C_ENST00000509482.1_Missense_Mutation_p.R192H	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	192					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCGCTCTACCGCCAGCCCGAC	0.667													False	0	False	4:3768908	0	A	3768908	G	A	3768908	3	1	88	1	0	0	0	0	1	0	0	0	339	1087	38	1	577	1	ADRA2C	4	3768908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	3768908	187385368	4884	12596											
OTOP1	133060	broad.mit.edu	37	chr4	4228393	4228393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgccacgaacacgatcaGcccatactggctgctcagca	8	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4228393G>A	ENST00000296358.4	-	1	223	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	67					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AACACGATCAGCCCATACTGG	0.716													False	0	True	4:4228393	0	A	4228393	G	A	4228393	2	1	88	1	0	0	0	0	0	0	0	1	11373	962	34	2		2	OTOP1	4	4228393	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	459485	4228393	186925883	4885	12597											
TMEM128	85013	broad.mit.edu	37	chr4	4242094	4242094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggtaatgggtatcaaggCtggatacttgacatcatatt	11	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4242094C>T	ENST00000254742.2	-	3	866	c.280G>A	c.(280-282)Gcc>Acc	p.A94T	TMEM128_ENST00000538516.1_Missense_Mutation_p.A118T|TMEM128_ENST00000382753.4_Missense_Mutation_p.A118T|TMEM128_ENST00000540397.1_Missense_Mutation_p.A118T	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN	transmembrane protein 128	118						integral to membrane				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		GGTATCAAGGCTGGATACTTG	0.368													False	0	False	4:4242094	0	T	4242094	C	T	4242094	3	4	88	1	0	0	0	0	1	0	0	0	16123	797	28	2	153	2	TMEM128	4	4242094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13701	4242094	186912182	4886	12598											
STX18	53407	broad.mit.edu	37	chr4	4421790	4421790	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccagtcgaggaagagcaAggagaaggagcacatcacga	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4421790A>G	ENST00000306200.2	-	11	1042	c.979T>C	c.(979-981)Ttg>Ctg	p.L327L	STX18_ENST00000505286.1_Intron	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	327					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		AGGAAGAGCAAGGAGAAGGAG	0.567													False	0	True	4:4421790	0	G	4421790	A	G	4421790	2	3	88	1	0	0	0	0	0	0	0	1	15423	69	3	4		4	STX18	4	4421790	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	179696	4421790	186732486	4887	12599											
MSX1	4487	broad.mit.edu	37	chr4	4864471	4864471	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accctccgcaaacacaagacGaaccgtaagccgcggacgcc	9	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4864471G>A	ENST00000382723.4	+	2	747	c.513G>A	c.(511-513)acG>acA	p.T171T	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	165					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AACACAAGACGAACCGTAAGC	0.617													False	0	False	4:4864471	0	A	4864471	G	A	4864471	2	1	88	1	0	0	0	0	0	0	0	1	9962	1045	37	1		1	MSX1	4	4864471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	442681	4864471	186289805	4888	12600											
CYTL1	54360	broad.mit.edu	37	chr4	5016925	5016925	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtcactgggattgggtattCcaaggcattgcagtcatcca	11	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5016925C>A	ENST00000307746.4	-	4	390	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	122					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ATTGGGTATTCCAAGGCATTG	0.478													False	0	False	4:5016925	0	A	5016925	C	A	5016925	4	1	88	1	0	0	0	0	0	1	0	0	4233	864	30	3	50	3	CYTL1	4	5016925	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152454	5016925	186137351	4889	12601											
EVC2	132884	broad.mit.edu	37	chr4	5564829	5564829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgagagggagacatgTcttctttaatatgctaaaga	9	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5564829T>C	ENST00000310917.2	-	22	4164	c.3433A>G	c.(3433-3435)Aca>Gca	p.T1145A	EVC2_ENST00000344408.5_Missense_Mutation_p.T1225A|EVC2_ENST00000344938.1_Intron	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1225						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGGAGACATGTCTTCTTTAAT	0.443													False	0	False	4:5564829	0	C	5564829	T	C	5564829	3	2	88	1	0	0	0	0	1	0	0	0	5318	1667	58	4	257	4	EVC2	4	5564829	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	547904	5564829	185589447	4890	12602											
EVC2	132884	broad.mit.edu	37	chr4	5620298	5620298	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagcagaactcgggcccgGatcttggggagggccaagct	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5620298G>A	ENST00000310917.2	-	15	3104	c.2373C>T	c.(2371-2373)atC>atT	p.I791I	EVC2_ENST00000344408.5_Silent_p.I871I|EVC2_ENST00000344938.1_Silent_p.I871I	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	871						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTCGGGCCCGGATCTTGGGGA	0.602													False	0	False	4:5620298	0	A	5620298	G	A	5620298	2	1	88	1	0	0	0	0	0	0	0	1	5318	1164	41	2		2	EVC2	4	5620298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55469	5620298	185533978	4891	12603											
EVC2	132884	broad.mit.edu	37	chr4	5633732	5633732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaggccatggagggtccGcagaaggttgctgcactcta	13	11	1	1	rs148248777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5633732G>A	ENST00000310917.2	-	11	1989	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	EVC2_ENST00000344408.5_Missense_Mutation_p.R500W|EVC2_ENST00000344938.1_Missense_Mutation_p.R500W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	500						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGGAGGGTCCGCAGAAGGTTG	0.512													False	0	False	4:5633732	0	A	5633732	G	A	5633732	3	1	88	1	0	0	0	0	1	0	0	0	5318	1086	38	1	2476	1	EVC2	4	5633732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13434	5633732	185520544	4892	12604											
EVC	2121	broad.mit.edu	37	chr4	5803763	5803763	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggcgtattaccagcaaatCggaaggatcatggaggacca	12	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5803763C>T	ENST00000382674.2	+	16	2575	c.2391C>T	c.(2389-2391)atC>atT	p.I797I	EVC_ENST00000264956.6_Silent_p.I797I			P57679	EVC_HUMAN	Ellis van Creveld syndrome	797					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACCAGCAAATCGGAAGGATCA	0.602													False	0	False	4:5803763	0	T	5803763	C	T	5803763	2	4	88	1	0	0	0	0	0	0	0	1	5317	874	31	1		1	EVC	4	5803763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170031	5803763	185350513	4893	12605											
CRMP1	1400	broad.mit.edu	37	chr4	5857930	5857930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgtaccagcttgtgatgtCcacgtggagggagtaatcac	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5857930C>T	ENST00000324989.7	-	4	848	c.760G>A	c.(760-762)Gac>Aac	p.D254N	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.D140N|CRMP1_ENST00000512574.1_Missense_Mutation_p.D138N	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	140					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTTGTGATGTCCACGTGGAGG	0.552													False	0	False	4:5857930	0	T	5857930	C	T	5857930	3	4	88	1	0	0	0	0	1	0	0	0	3913	855	30	2	1344	2	CRMP1	4	5857930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54167	5857930	185296346	4894	12606											
C4orf50	389197	broad.mit.edu	37	chr4	5966868	5966868	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaggattcaagaggtatgtCtgagctggaagggaaaattc	13	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5966868C>T	ENST00000531445.1	-	6	1930	c.1884G>A	c.(1882-1884)caG>caA	p.Q628Q	C4orf50_ENST00000324058.5_Silent_p.Q154Q			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	154										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AGAGGTATGTCTGAGCTGGAA	0.507													False	0	False	4:5966868	0	T	5966868	C	T	5966868	2	4	88	1	0	0	0	0	0	0	0	1	2293	912	32	2		2	C4orf50	4	5966868	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108938	5966868	185187408	4895	12607											
C4orf50	389197	broad.mit.edu	37	chr4	5975525	5975525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaggtgggtgatcaggCggttcctctcccggcacttc	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5975525C>T	ENST00000531445.1	-	4	1737	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	C4orf50_ENST00000324058.5_Missense_Mutation_p.R90H			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	90										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GGTGATCAGGCGGTTCCTCTC	0.632													False	0	False	4:5975525	0	T	5975525	C	T	5975525	3	4	88	1	0	0	0	0	1	0	0	0	2293	768	27	1	577	1	C4orf50	4	5975525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8657	5975525	185178751	4896	12608											
C4orf50	389197	broad.mit.edu	37	chr4	5977679	5977679	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgctttttctgaagttcttCaagctgaaataaaagcgaca	7	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5977679C>T	ENST00000531445.1	-	3	1640	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	C4orf50_ENST00000324058.5_Missense_Mutation_p.E58K			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	58										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGAAGTTCTTCAAGCTGAAAT	0.428													False	0	False	4:5977679	0	T	5977679	C	T	5977679	3	4	88	1	0	0	0	0	1	0	0	0	2293	835	29	2	678	2	C4orf50	4	5977679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2154	5977679	185176597	4897	12609											
JAKMIP1	152789	broad.mit.edu	37	chr4	6080706	6080706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctcgatgccttttggagCgcaacagccgttctctctcc	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6080706C>T	ENST00000409021.3	-	8	1711	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R256H|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R421H|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R421H	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	421	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTTTGGAGCGCAACAGCCG	0.567													False	0	False	4:6080706	0	T	6080706	C	T	6080706	3	4	88	1	0	0	0	0	1	0	0	0	7990	768	27	1	1364	1	JAKMIP1	4	6080706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103027	6080706	185073570	4898	12610											
WFS1	7466	broad.mit.edu	37	chr4	6293694	6293694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccctgcagaagcagaggCgcatgctggagcgcctggtc	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6293694C>T	ENST00000226760.1	+	6	852	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	WFS1_ENST00000503569.1_Missense_Mutation_p.R228C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	228					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAAGCAGAGGCGCATGCTGGA	0.647													False	0	False	4:6293694	0	T	6293694	C	T	6293694	3	4	88	1	0	0	0	0	1	0	0	0	17444	768	27	1	700	1	WFS1	4	6293694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212988	6293694	184860582	4899	12611											
WFS1	7466	broad.mit.edu	37	chr4	6302625	6302625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcaaggtgttccaggacaGcaaggcctgggagaacttcc	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6302625G>T	ENST00000226760.1	+	8	1273	c.1103G>T	c.(1102-1104)aGc>aTc	p.S368I	WFS1_ENST00000503569.1_Missense_Mutation_p.S368I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	368					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TTCCAGGACAGCAAGGCCTGG	0.582													False	0	False	4:6302625	0	T	6302625	G	T	6302625	3	4	88	1	0	0	0	0	1	0	0	0	17444	971	34	3	1129	3	WFS1	4	6302625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8931	6302625	184851651	4900	12612											
WFS1	7466	broad.mit.edu	37	chr4	6303071	6303071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgctctatctcttcttcCgcatggcacagctgaggaat	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303071C>T	ENST00000226760.1	+	8	1719	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	WFS1_ENST00000503569.1_Missense_Mutation_p.R517C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	517					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCTCTTCTTCCGCATGGCACA	0.577													False	0	False	4:6303071	0	T	6303071	C	T	6303071	3	4	88	1	0	0	0	0	1	0	0	0	17444	652	23	1	1575	1	WFS1	4	6303071	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	446	6303071	184851205	4901	12613											
WFS1	7466	broad.mit.edu	37	chr4	6303313	6303313	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctggagctcaccaagatCgcagtcaccgtggcggtctg	12	13	4	1	rs141883293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303313C>T	ENST00000226760.1	+	8	1961	c.1791C>T	c.(1789-1791)atC>atT	p.I597I	WFS1_ENST00000503569.1_Silent_p.I597I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	597					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCACCAAGATCGCAGTCACCG	0.647													False	0	False	4:6303313	0	T	6303313	C	T	6303313	2	4	88	1	0	0	0	0	0	0	0	1	17444	874	31	1		1	WFS1	4	6303313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	242	6303313	184850963	4902	12614											
WFS1	7466	broad.mit.edu	37	chr4	6303910	6303910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgcagccgcgaggaggaCgacgtcaccaaggacatcgt	14	13	1	0	rs71532868		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303910C>T	ENST00000226760.1	+	8	2558	c.2388C>T	c.(2386-2388)gaC>gaT	p.D796D	WFS1_ENST00000503569.1_Silent_p.D796D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	796					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCGAGGAGGACGACGTCACCA	0.627													False	0	False	4:6303910	0	T	6303910	C	T	6303910	2	4	88	1	0	0	0	0	0	0	0	1	17444	535	19	1		1	WFS1	4	6303910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	597	6303910	184850366	4903	12615											
WFS1	7466	broad.mit.edu	37	chr4	6303932	6303932	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtcaccaaggacatcgtgCtgcgggccagcagcgagttc	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303932C>A	ENST00000226760.1	+	8	2580	c.2410C>A	c.(2410-2412)Ctg>Atg	p.L804M	WFS1_ENST00000503569.1_Missense_Mutation_p.L804M	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	804					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGACATCGTGCTGCGGGCCAG	0.652													False	0	False	4:6303932	0	A	6303932	C	A	6303932	3	1	88	1	0	0	0	0	1	0	0	0	17444	796	28	3	2436	3	WFS1	4	6303932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	6303932	184850344	4904	12616											
MAN2B2	23324	broad.mit.edu	37	chr4	6578436	6578436	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggatggcgtcgcctcggaCcagcagaaataccaggtaat	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6578436C>T	ENST00000285599.3	+	2	306	c.270C>T	c.(268-270)gaC>gaT	p.D90D	MAN2B2_ENST00000504248.1_Silent_p.D90D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	90					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCGCCTCGGACCAGCAGAAAT	0.597													False	0	False	4:6578436	0	T	6578436	C	T	6578436	2	4	88	1	0	0	0	0	0	0	0	1	9284	506	18	2		2	MAN2B2	4	6578436	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274504	6578436	184575840	4905	12617											
MAN2B2	23324	broad.mit.edu	37	chr4	6598925	6598925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcgccttgttgtatgcCggggagtccatgttcacacg	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6598925C>T	ENST00000285599.3	+	8	1179	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A	MAN2B2_ENST00000504248.1_Silent_p.A330A	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	381					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGTTGTATGCCGGGGAGTCCA	0.672													False	0	True	4:6598925	0	T	6598925	C	T	6598925	2	4	88	1	0	0	0	0	0	0	0	1	9284	639	23	1		1	MAN2B2	4	6598925	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20489	6598925	184555351	4906	12618											
MAN2B2	23324	broad.mit.edu	37	chr4	6599013	6599013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcagcagctccagcagcttCgctgggccgtctccgaggta	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6599013C>T	ENST00000285599.3	+	8	1267	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R360C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	411					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCAGCAGCTTCGCTGGGCCGT	0.632													False	0	False	4:6599013	0	T	6599013	C	T	6599013	3	4	88	1	0	0	0	0	1	0	0	0	9284	884	31	1	1261	1	MAN2B2	4	6599013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	6599013	184555263	4907	12619											
KIAA0232	9778	broad.mit.edu	37	chr4	6862743	6862743	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcttcatcatccacaGccccaccagctagcacagat	5	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6862743G>T	ENST00000307659.5	+	7	1089	c.634G>T	c.(634-636)Gcc>Tcc	p.A212S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.A212S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	212							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATCATCCACAGCCCCACCAGC	0.463													False	0	True	4:6862743	0	T	6862743	G	T	6862743	3	4	88	1	0	0	0	0	1	0	0	0	8213	971	34	3	652	3	KIAA0232	4	6862743	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263730	6862743	184291533	4908	12620											
KIAA0232	9778	broad.mit.edu	37	chr4	6863883	6863883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaatctggctcagttttggGagtgctgttcatccagctcc	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6863883G>A	ENST00000307659.5	+	7	2229	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E592K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	592							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TCAGTTTTGGGAGTGCTGTTC	0.522													False	0	True	4:6863883	0	A	6863883	G	A	6863883	3	1	88	1	0	0	0	0	1	0	0	0	8213	1175	41	2	1792	2	KIAA0232	4	6863883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1140	6863883	184290393	4909	12621											
KIAA0232	9778	broad.mit.edu	37	chr4	6864159	6864159	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgctaatatgcttgggaaaAcacagtctagattgctaata	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6864159A>G	ENST00000307659.5	+	7	2505	c.2050A>G	c.(2050-2052)Aca>Gca	p.T684A	KIAA0232_ENST00000425103.1_Missense_Mutation_p.T684A	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	684							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCTTGGGAAAACACAGTCTAG	0.348													False	0	True	4:6864159	0	G	6864159	A	G	6864159	3	3	88	1	0	0	0	0	1	0	0	0	8213	43	2	4	2068	4	KIAA0232	4	6864159	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	276	6864159	184290117	4910	12622											
KIAA0232	9778	broad.mit.edu	37	chr4	6864270	6864270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcccattcagaagaaacaCgttcagacaatgaaacatta	7	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6864270C>T	ENST00000307659.5	+	7	2616	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C	KIAA0232_ENST00000425103.1_Missense_Mutation_p.R721C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	721							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGAAGAAACACGTTCAGACAA	0.333													False	0	False	4:6864270	0	T	6864270	C	T	6864270	3	4	88	1	0	0	0	0	1	0	0	0	8213	536	19	1	2179	1	KIAA0232	4	6864270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111	6864270	184290006	4911	12623											
KIAA0232	9778	broad.mit.edu	37	chr4	6865260	6865260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcaatccattttcacaaGttcttcatgtagaatgctca	5	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6865260G>A	ENST00000307659.5	+	7	3606	c.3151G>A	c.(3151-3153)Gtt>Att	p.V1051I	KIAA0232_ENST00000425103.1_Missense_Mutation_p.V1051I	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1051							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATTTTCACAAGTTCTTCATGT	0.398													False	0	False	4:6865260	0	A	6865260	G	A	6865260	3	1	88	1	0	0	0	0	1	0	0	0	8213	1029	36	2	3169	2	KIAA0232	4	6865260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	990	6865260	184289016	4912	12624											
TBC1D14	57533	broad.mit.edu	37	chr4	6925330	6925330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcggggattcctaccctgGagatcgggaacccggagcct	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6925330G>A	ENST00000409757.4	+	2	338	c.214G>A	c.(214-216)Gag>Aag	p.E72K	TBC1D14_ENST00000448507.1_Missense_Mutation_p.E72K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	72						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TCCTACCCTGGAGATCGGGAA	0.657													False	0	False	4:6925330	0	A	6925330	G	A	6925330	3	1	88	1	0	0	0	0	1	0	0	0	15685	1175	41	2	216	2	TBC1D14	4	6925330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60070	6925330	184228946	4913	12625											
TBC1D14	57533	broad.mit.edu	37	chr4	7008409	7008409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtctggagcttattaaaCtggacatttctagaacattt	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7008409C>T	ENST00000409757.4	+	9	1526	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	TBC1D14_ENST00000448507.1_Silent_p.L468L|TBC1D14_ENST00000451522.2_Silent_p.L188L|TBC1D14_ENST00000410031.1_Silent_p.L240L|TBC1D14_ENST00000446947.2_Silent_p.L81L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	468	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GCTTATTAAACTGGACATTTC	0.388													False	0	True	4:7008409	0	T	7008409	C	T	7008409	2	4	88	1	0	0	0	0	0	0	0	1	15685	564	20	2		2	TBC1D14	4	7008409	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83079	7008409	184145867	4914	12626											
CCDC96	257236	broad.mit.edu	37	chr4	7044246	7044246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtcagcggcagagaggcctgGaacctgacttccttcccctc	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7044246G>T	ENST00000310085.4	-	1	482	c.420C>A	c.(418-420)ttC>ttA	p.F140L	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	140	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						GAGAGGCCTGGAACCTGACTT	0.701													False	0	False	4:7044246	0	T	7044246	G	T	7044246	3	4	88	1	0	0	0	0	1	0	0	0	2895	1165	41	3	1251	3	CCDC96	4	7044246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35837	7044246	184110030	4915	12627											
GRPEL1	80273	broad.mit.edu	37	chr4	7062618	7062618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccacccccaccagggCgggtctcagagtgcgcccat	10	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7062618C>T	ENST00000264954.4	-	4	789	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	209					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCCACCAGGGCGGGTCTCAGA	0.542													False	0	True	4:7062618	0	T	7062618	C	T	7062618	3	4	88	1	0	0	0	0	1	0	0	0	6853	768	27	1	32	1	GRPEL1	4	7062618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18372	7062618	184091658	4916	12628											
GRPEL1	80273	broad.mit.edu	37	chr4	7062915	7062915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgccacctccaacaagtCcttgcagaaggcttgaatgc	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7062915C>T	ENST00000264954.4	-	4	492	c.328G>A	c.(328-330)Gac>Aac	p.D110N	GRPEL1_ENST00000514056.1_5'UTR	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	110					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCCAACAAGTCCTTGCAGAAG	0.468													False	0	False	4:7062915	0	T	7062915	C	T	7062915	3	4	88	1	0	0	0	0	1	0	0	0	6853	855	30	2	329	2	GRPEL1	4	7062915	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	297	7062915	184091361	4917	12629											
SORCS2	57537	broad.mit.edu	37	chr4	7705999	7705999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgagccaggggacgagaCgctggtcatgacgtgagtgc	18	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7705999C>T	ENST00000507866.2	+	14	1965	c.1856C>T	c.(1855-1857)aCg>aTg	p.T619M	SORCS2_ENST00000329016.9_Missense_Mutation_p.T447M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	619						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGGGACGAGACGCTGGTCATG	0.662													False	0	False	4:7705999	0	T	7705999	C	T	7705999	3	4	88	1	0	0	0	0	1	0	0	0	15011	536	19	1	1910	1	SORCS2	4	7705999	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	643084	7705999	183448277	4918	12630											
SORCS2	57537	broad.mit.edu	37	chr4	7725587	7725587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggcaggccacgatgaggCggtgctctttgtccaggtca	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7725587C>T	ENST00000507866.2	+	19	2697	c.2588C>T	c.(2587-2589)gCg>gTg	p.A863V	SORCS2_ENST00000329016.9_Missense_Mutation_p.A691V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	863	PKD.					integral to membrane	neuropeptide receptor activity	p.A713V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CACGATGAGGCGGTGCTCTTT	0.587													False	0	False	4:7725587	0	T	7725587	C	T	7725587	3	4	88	1	0	0	0	0	1	0	0	0	15011	768	27	1	2662	1	SORCS2	4	7725587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19588	7725587	183428689	4919	12631											
SORCS2	57537	broad.mit.edu	37	chr4	7731317	7731317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaactctccccgcaggagAccagcgtccctcaggagctt	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7731317A>G	ENST00000507866.2	+	23	3095	c.2986A>G	c.(2986-2988)Acc>Gcc	p.T996A	SORCS2_ENST00000329016.9_Missense_Mutation_p.T824A	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	996						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCGCAGGAGACCAGCGTCCC	0.627													False	0	False	4:7731317	0	G	7731317	A	G	7731317	3	3	88	1	0	0	0	0	1	0	0	0	15011	275	10	4	3076	4	SORCS2	4	7731317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5730	7731317	183422959	4920	12632											
ABLIM2	84448	broad.mit.edu	37	chr4	8062713	8062713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgaagatacatctcttcGccttctgcaaacatctggcc	6	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8062713G>A	ENST00000318888.4	-	7	886	c.15C>T	c.(13-15)ggC>ggT	p.G5G	ABLIM2_ENST00000546334.1_Silent_p.G248G|ABLIM2_ENST00000447017.2_Silent_p.G248G|ABLIM2_ENST00000514025.1_Silent_p.G5G|ABLIM2_ENST00000545242.1_Silent_p.G248G|ABLIM2_ENST00000407564.3_Silent_p.G248G|ABLIM2_ENST00000341937.5_Silent_p.G248G|ABLIM2_ENST00000361581.5_Silent_p.G248G|ABLIM2_ENST00000428004.2_Silent_p.G248G|ABLIM2_ENST00000505872.1_Silent_p.G248G|ABLIM2_ENST00000296372.8_Silent_p.G248G|ABLIM2_ENST00000361737.5_Silent_p.G248G			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	248					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ACATCTCTTCGCCTTCTGCAA	0.483													False	0	False	4:8062713	0	A	8062713	G	A	8062713	2	1	88	1	0	0	0	0	0	0	0	1	95	1074	38	1		1	ABLIM2	4	8062713	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331396	8062713	183091563	4921	12633											
ABLIM2	84448	broad.mit.edu	37	chr4	8089918	8089918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaggccctgggacaggtgCgcgctgctgcccaccgatac	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8089918C>T	ENST00000296372.8	-	4	574	c.432G>A	c.(430-432)gcG>gcA	p.A144A	ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000546334.1_Silent_p.A144A|ABLIM2_ENST00000447017.2_Silent_p.A144A|ABLIM2_ENST00000545242.1_Silent_p.A144A|ABLIM2_ENST00000407564.3_Silent_p.A144A|ABLIM2_ENST00000341937.5_Silent_p.A144A|ABLIM2_ENST00000361581.5_Silent_p.A144A|ABLIM2_ENST00000428004.2_Silent_p.A144A|ABLIM2_ENST00000505872.1_Silent_p.A144A|ABLIM2_ENST00000361737.5_Silent_p.A144A			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	144					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGGACAGGTGCGCGCTGCTGC	0.632													False	0	True	4:8089918	0	T	8089918	C	T	8089918	2	4	88	1	0	0	0	0	0	0	0	1	95	755	27	1		1	ABLIM2	4	8089918	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27205	8089918	183064358	4922	12634											
ABLIM2	84448	broad.mit.edu	37	chr4	8108314	8108314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgtgttgcacaggatcgCcgtgctgggcgacttctcca	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8108314C>T	ENST00000296372.8	-	2	203	c.61G>A	c.(61-63)Gcg>Acg	p.A21T	ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000546334.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000545242.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000407564.3_Missense_Mutation_p.A21T|ABLIM2_ENST00000341937.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000361581.5_Missense_Mutation_p.A21T|ABLIM2_ENST00000428004.2_Missense_Mutation_p.A21T|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A21T|ABLIM2_ENST00000361737.5_Missense_Mutation_p.A21T			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	21					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CACAGGATCGCCGTGCTGGGC	0.592													False	0	False	4:8108314	0	T	8108314	C	T	8108314	3	4	88	1	0	0	0	0	1	0	0	0	95	739	26	2	2010	2	ABLIM2	4	8108314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18396	8108314	183045962	4923	12635											
SH3TC1	54436	broad.mit.edu	37	chr4	8221133	8221133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgaccttccgaggtggcGacctcatcgagatccttggg	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8221133G>A	ENST00000539824.1	+	9	1134	c.760G>A	c.(760-762)Gac>Aac	p.D254N	SH3TC1_ENST00000245105.3_Missense_Mutation_p.D330N			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	330							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCGAGGTGGCGACCTCATCGA	0.677													False	0	False	4:8221133	0	A	8221133	G	A	8221133	3	1	88	1	0	0	0	0	1	0	0	0	14342	1058	37	1	1018	1	SH3TC1	4	8221133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112819	8221133	182933143	4924	12636											
SH3TC1	54436	broad.mit.edu	37	chr4	8228996	8228996	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgatgtggcgctgccgtgGctgagcagcgtgttccgcag	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8228996G>A	ENST00000539824.1	+	12	1721	c.1347G>A	c.(1345-1347)tgG>tgA	p.W449*	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Nonsense_Mutation_p.W525*			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	525							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CGCTGCCGTGGCTGAGCAGCG	0.677													False	0	False	4:8228996	0	A	8228996	G	A	8228996	4	1	88	1	0	0	0	0	0	1	0	0	14342	1212	42	2	1617	2	SH3TC1	4	8228996	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7863	8228996	182925280	4925	12637											
SH3TC1	54436	broad.mit.edu	37	chr4	8229700	8229700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacgccccccagccccacaGcctccctgcccaaacttccc	5	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8229700G>T	ENST00000539824.1	+	12	2425	c.2051G>T	c.(2050-2052)aGc>aTc	p.S684I	SH3TC1_ENST00000245105.3_Missense_Mutation_p.S760I			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	760							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCCCCACAGCCTCCCTGCC	0.692													False	0	False	4:8229700	0	T	8229700	G	T	8229700	3	4	88	1	0	0	0	0	1	0	0	0	14342	971	34	3	2321	3	SH3TC1	4	8229700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704	8229700	182924576	4926	12638											
SH3TC1	54436	broad.mit.edu	37	chr4	8229864	8229864	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatgacgcaggcagtggaaGccagtgctattgccggagtc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8229864G>T	ENST00000539824.1	+	12	2589	c.2215G>T	c.(2215-2217)Gcc>Tcc	p.A739S	SH3TC1_ENST00000245105.3_Missense_Mutation_p.A815S			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	815							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCAGTGGAAGCCAGTGCTAT	0.677													False	0	False	4:8229864	0	T	8229864	G	T	8229864	3	4	88	1	0	0	0	0	1	0	0	0	14342	971	34	3	2485	3	SH3TC1	4	8229864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164	8229864	182924412	4927	12639											
SH3TC1	54436	broad.mit.edu	37	chr4	8242552	8242552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaacttcctcctggaccGtgagaagtcgctcttcttct	7	15	3	1	rs143876832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8242552G>A	ENST00000539824.1	+	18	4027	c.3653G>A	c.(3652-3654)cGt>cAt	p.R1218H	SH3TC1_ENST00000245105.3_Missense_Mutation_p.R1294H			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1294							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTCCTGGACCGTGAGAAGTCG	0.627													False	0	False	4:8242552	0	A	8242552	G	A	8242552	3	1	88	1	0	0	0	0	1	0	0	0	14342	1145	40	1	3947	1	SH3TC1	4	8242552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12688	8242552	182911724	4928	12640											
HTRA3	94031	broad.mit.edu	37	chr4	8284228	8284228	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgacgtggtggagaagatCgcaccagccgtggtccacat	14	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8284228C>T	ENST00000307358.2	+	2	654	c.450C>T	c.(448-450)atC>atT	p.I150I	HTRA3_ENST00000382512.3_Silent_p.I150I	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	150					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TGGAGAAGATCGCACCAGCCG	0.622													False	0	False	4:8284228	0	T	8284228	C	T	8284228	2	4	88	1	0	0	0	0	0	0	0	1	7505	874	31	1		1	HTRA3	4	8284228	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41676	8284228	182870048	4929	12641											
HTRA3	94031	broad.mit.edu	37	chr4	8288479	8288479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagacatcgacaagaagtCggacattgccaccatcaaga	8	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8288479C>T	ENST00000307358.2	+	3	881	c.677C>T	c.(676-678)tCg>tTg	p.S226L	HTRA3_ENST00000382512.3_Missense_Mutation_p.S226L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	226	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GACAAGAAGTCGGACATTGCC	0.622													False	0	False	4:8288479	0	T	8288479	C	T	8288479	3	4	88	1	0	0	0	0	1	0	0	0	7505	893	31	1	687	1	HTRA3	4	8288479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4251	8288479	182865797	4930	12642											
ACOX3	8310	broad.mit.edu	37	chr4	8390958	8390958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttctggtcaaggatgccGggataggcgtccagaaagtc	13	9	2	1	rs113402127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8390958G>A	ENST00000356406.5	-	13	1556	c.1479C>T	c.(1477-1479)ccC>ccT	p.P493P	ACOX3_ENST00000413009.2_Silent_p.P493P|ACOX3_ENST00000503233.1_Silent_p.P493P	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	493					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CAAGGATGCCGGGATAGGCGT	0.552													False	0	True	4:8390958	0	A	8390958	G	A	8390958	2	1	88	1	0	0	0	0	0	0	0	1	160	1103	39	1		1	ACOX3	4	8390958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102479	8390958	182763318	4931	12643											
ACOX3	8310	broad.mit.edu	37	chr4	8396442	8396442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtctaaggcgtagacagCtgccagatatggaagcaagc	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8396442C>T	ENST00000356406.5	-	10	1161	c.1084G>A	c.(1084-1086)Gct>Act	p.A362T	ACOX3_ENST00000413009.2_Missense_Mutation_p.A362T|ACOX3_ENST00000503233.1_Missense_Mutation_p.A362T	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	362					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCGTAGACAGCTGCCAGATAT	0.572													False	0	False	4:8396442	0	T	8396442	C	T	8396442	3	4	88	1	0	0	0	0	1	0	0	0	160	797	28	2	1054	2	ACOX3	4	8396442	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5484	8396442	182757834	4932	12644											
CPZ	8532	broad.mit.edu	37	chr4	8616132	8616132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaactgctttgagatcacGgtagagctgggctgtgtgaa	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8616132G>A	ENST00000429646.2	+	7	3027	c.234G>A	c.(232-234)acG>acA	p.T78T	CPZ_ENST00000382480.2_Silent_p.T333T|CPZ_ENST00000315782.6_Silent_p.T459T|CPZ_ENST00000360986.4_Silent_p.T470T			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	470	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTGAGATCACGGTAGAGCTGG	0.572													False	0	False	4:8616132	0	A	8616132	G	A	8616132	2	1	88	1	0	0	0	0	0	0	0	1	3862	1103	39	1		1	CPZ	4	8616132	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219690	8616132	182538144	4933	12645											
CPZ	8532	broad.mit.edu	37	chr4	8620238	8620238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcagtcaaaggcattcGccacgacatcaccacaggtg	9	13	3	0	rs143243881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8620238G>A	ENST00000429646.2	+	8	3203	c.410G>A	c.(409-411)cGc>cAc	p.R137H	CPZ_ENST00000382480.2_Missense_Mutation_p.R392H|CPZ_ENST00000315782.6_Missense_Mutation_p.R518H|CPZ_ENST00000360986.4_Missense_Mutation_p.R529H			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	529	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAGGCATTCGCCACGACATC	0.597													False	0	False	4:8620238	0	A	8620238	G	A	8620238	3	1	88	1	0	0	0	0	1	0	0	0	3862	1087	38	1	1624	1	CPZ	4	8620238	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4106	8620238	182534038	4934	12646											
SLC2A9	56606	broad.mit.edu	37	chr4	9998463	9998463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacaagtccaccgatggCgaatatggacacagtcacag	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:9998463C>T	ENST00000506583.1	-	5	482	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	SLC2A9_ENST00000264784.3_Missense_Mutation_p.A118T|SLC2A9_ENST00000309065.3_Missense_Mutation_p.A89T			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	118					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CCACCGATGGCGAATATGGAC	0.498													False	0	False	4:9998463	0	T	9998463	C	T	9998463	3	4	88	1	0	0	0	0	1	0	0	0	14632	768	27	1	1310	1	SLC2A9	4	9998463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1378225	9998463	181155813	4935	12647											
SLC2A9	56606	broad.mit.edu	37	chr4	10027631	10027631	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacttttgttgttattgtttCtgagaaagagaaaaagaaag	9	2	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10027631C>A	ENST00000506583.1	-	3	178		c.e3-1		SLC2A9_ENST00000309065.3_Splice_Site			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9						glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GTTATTGTTTCTGAGAAAGAG	0.418													False	0	True	4:10027631	0	A	10027631	C	A	10027631	5	1	88	1	0	0	0	0	0	0	1	0	14632	927	32	3		3	SLC2A9	4	10027631	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29168	10027631	181126645	4936	12648											
WDR1	9948	broad.mit.edu	37	chr4	10080531	10080531	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaccacacccccaattgccAccgtgtccccgccggggtgc	9	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10080531A>G	ENST00000382452.2	-	12	1661	c.1379T>C	c.(1378-1380)gTg>gCg	p.V460A	WDR1_ENST00000382451.2_Missense_Mutation_p.V320A|WDR1_ENST00000502702.1_Missense_Mutation_p.V320A|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Missense_Mutation_p.V460A	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	460					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCAATTGCCACCGTGTCCCC	0.597													False	0	False	4:10080531	0	G	10080531	A	G	10080531	3	3	88	1	0	0	0	0	1	0	0	0	17356	159	6	4	457	4	WDR1	4	10080531	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52900	10080531	181073745	4937	12649											
WDR1	9948	broad.mit.edu	37	chr4	10099401	10099401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagttatcatcgcttccCgtggccagccggtatggccg	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10099401C>T	ENST00000382452.2	-	5	774	c.492G>A	c.(490-492)acG>acA	p.T164T	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Silent_p.T164T	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	164					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CATCGCTTCCCGTGGCCAGCC	0.507													False	0	True	4:10099401	0	T	10099401	C	T	10099401	2	4	88	1	0	0	0	0	0	0	0	1	17356	639	23	1		1	WDR1	4	10099401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18870	10099401	181054875	4938	12650											
WDR1	9948	broad.mit.edu	37	chr4	10100706	10100706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgaaaggctggtactcaTacttcaacaggtgctccttc	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10100706T>C	ENST00000382452.2	-	4	569	c.287A>G	c.(286-288)tAt>tGt	p.Y96C	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Missense_Mutation_p.Y96C	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	96					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGGTACTCATACTTCAACAG	0.582													False	0	False	4:10100706	0	C	10100706	T	C	10100706	3	2	88	1	0	0	0	0	1	0	0	0	17356	1406	49	4	1581	4	WDR1	4	10100706	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1305	10100706	181053570	4939	12651											
ZNF518B	85460	broad.mit.edu	37	chr4	10445398	10445398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggatggtgctacagacaGcactctcttttctcagttta	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10445398G>A	ENST00000326756.3	-	3	2993	c.2555C>T	c.(2554-2556)gCt>gTt	p.A852V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GCTACAGACAGCACTCTCTTT	0.458													False	0	True	4:10445398	0	A	10445398	G	A	10445398	3	1	88	1	0	0	0	0	1	0	0	0	18046	971	34	2	673	2	ZNF518B	4	10445398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	344692	10445398	180708878	4940	12652											
HS3ST1	9957	broad.mit.edu	37	chr4	11400937	11400937	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacagctttaggaacctctcGaccttttggatctcagggaa	10	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:11400937G>A	ENST00000002596.5	-	2	1867	c.693C>T	c.(691-693)gtC>gtT	p.V231V		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	231						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGAACCTCTCGACCTTTTGGA	0.567													False	0	False	4:11400937	0	A	11400937	G	A	11400937	2	1	88	1	0	0	0	0	0	0	0	1	7410	1045	37	1		1	HS3ST1	4	11400937	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	955539	11400937	179753339	4941	12653											
HS3ST1	9957	broad.mit.edu	37	chr4	11401429	11401429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatctccagcagtgcgcgCgtgccgcccttgcgcacgcc	12	18	1	0	rs148222581		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:11401429C>T	ENST00000002596.5	-	2	1375	c.201G>A	c.(199-201)acG>acA	p.T67T		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	67						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCAGTGCGCGCGTGCCGCCCT	0.677													False	0	True	4:11401429	0	T	11401429	C	T	11401429	2	4	88	1	0	0	0	0	0	0	0	1	7410	755	27	1		1	HS3ST1	4	11401429	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	492	11401429	179752847	4942	12654											
RAB28	0	broad.mit.edu	37	chr4	13370206	13370206	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaactgcacacatagagctTctaggagggttaacagtcct	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13370206T>G	ENST00000330852.5	-	7	856	c.642A>C	c.(640-642)agA>agC	p.R214S	RAB28_ENST00000338176.4_3'UTR|RAB28_ENST00000288723.4_3'UTR	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	214					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						ACATAGAGCTTCTAGGAGGGT	0.453													False	0	False	4:13370206	0	G	13370206	T	G	13370206	3	3	88	1	0	0	0	0	1	0	0	0	12995	1780	62	4	27	4	RAB28	4	13370206	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1968777	13370206	177784070	4943	12655											
RAB28	0	broad.mit.edu	37	chr4	13371502	13371502	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcacttaatacctgcactActgtactgaacagattctac	4	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13371502A>G	ENST00000288723.4	-	7	875	c.661T>C	c.(661-663)Tag>Cag	p.*221Q	RAB28_ENST00000338176.4_Intron|RAB28_ENST00000330852.5_Intron	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	0					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TACCTGCACTACTGTACTGAA	0.398													False	0	True	4:13371502	0	G	13371502	A	G	13371502	4	3	88	1	0	0	0	0	0	0	0	0	12995	404	14	4	102	4	RAB28	4	13371502	Nonstop_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1296	13371502	177782774	4944	12656											
CPEB2	132864	broad.mit.edu	37	chr4	15060083	15060083	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaagaagagagctcagttCaggcactcattgatgcttgt	10	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15060083C>T	ENST00000538197.1	+	9	2500	c.2500C>T	c.(2500-2502)Cag>Tag	p.Q834*	CPEB2_ENST00000507071.1_Nonsense_Mutation_p.Q389*|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382401.3_Nonsense_Mutation_p.Q362*|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000442003.2_Nonsense_Mutation_p.Q807*|CPEB2_ENST00000345451.3_Nonsense_Mutation_p.Q359*|CPEB2_ENST00000541112.1_Nonsense_Mutation_p.Q826*|CPEB2_ENST00000259997.5_Nonsense_Mutation_p.Q397*|CPEB2_ENST00000382395.3_Nonsense_Mutation_p.Q367*	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	389					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GAGCTCAGTTCAGGCACTCAT	0.378													False	0	False	4:15060083	0	T	15060083	C	T	15060083	4	4	88	1	0	0	0	0	0	1	0	0	3824	827	29	2	2543	2	CPEB2	4	15060083	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1688581	15060083	176094193	4945	12657											
C1QTNF7	114905	broad.mit.edu	37	chr4	15437372	15437372	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttccagagccaaagatgtTtgtcttgctctatgttacaa	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15437372T>G	ENST00000295297.4	+	2	285	c.26T>G	c.(25-27)tTt>tGt	p.F9C	C1QTNF7_ENST00000444304.2_Missense_Mutation_p.F2C|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.F2C	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	2						collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CCAAAGATGTTTGTCTTGCTC	0.448													False	0	True	4:15437372	0	G	15437372	T	G	15437372	3	3	88	1	0	0	0	0	1	0	0	0	1983	1841	64	4	32	4	C1QTNF7	4	15437372	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	377289	15437372	175716904	4946	12658											
CC2D2A	57545	broad.mit.edu	37	chr4	15534870	15534870	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagatagaacattgcttaaGactatcataaaagtttggaa	7	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15534870G>T	ENST00000424120.1	+	14	1775	c.1521G>T	c.(1519-1521)aaG>aaT	p.K507N	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_Missense_Mutation_p.K507N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.K507N|CC2D2A_ENST00000389652.5_Missense_Mutation_p.K458N			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	507					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CATTGCTTAAGACTATCATAA	0.323													False	0	False	4:15534870	0	T	15534870	G	T	15534870	3	4	88	1	0	0	0	0	1	0	0	0	2748	933	33	3	1774	3	CC2D2A	4	15534870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97498	15534870	175619406	4947	12659											
FBXL5	26234	broad.mit.edu	37	chr4	15646318	15646319	+	Frame_Shift_Ins	INS	-	-	GGATATTCAAC													atcgttgttgttggaaaaatINStggttttagaaagctgaata							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15646318_15646319insGGATATTCAAC	ENST00000341285.3	-	2	221_222	c.97_98insGTTGAATATCC	c.(97-99)aatfs	p.N33fs	FBXL5_ENST00000382358.4_5'UTR|FBXL5_ENST00000412094.2_Intron	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	33	Hemerythrin-like.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						GTTGGAAAAATTGGTTTTAGAA	0.287													False	0	False	4:15646318	0	GGATATTCAAC	15646319	-	GGATATTCAAC	15646318	7	5	88	1	0	1	1	0	0	0	0	0	5762	1493	52	0	2017	0	FBXL5	4	15646318	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	111448	15646318	175507958	4948	12660											
CD38	952	broad.mit.edu	37	chr4	15780058	15780058	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccaactgcgagttcagCccggtgtccggggacaaacc	13	13	1	0	rs142149974	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15780058C>T	ENST00000226279.3	+	1	158	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule						B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GCGAGTTCAGCCCGGTGTCCG	0.647													False	0	True	4:15780058	0	T	15780058	C	T	15780058	2	4	88	1	0	0	0	0	0	0	0	1	3032	738	26	2		2	CD38	4	15780058	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133740	15780058	175374218	4949	12661											
CD38	952	broad.mit.edu	37	chr4	15842113	15842113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccataaaagagctggaatCgattataagcaaaaggaata	8	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15842113C>T	ENST00000226279.3	+	7	928	c.791C>T	c.(790-792)tCg>tTg	p.S264L		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule						B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GAGCTGGAATCGATTATAAGC	0.333													False	0	False	4:15842113	0	T	15842113	C	T	15842113	3	4	88	1	0	0	0	0	1	0	0	0	3032	893	31	1	817	1	CD38	4	15842113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62055	15842113	175312163	4950	12662											
FGFBP1	9982	broad.mit.edu	37	chr4	15937605	15937605	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgcagagagagctccaAgtctctccacagaactccag	9	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15937605A>C	ENST00000382333.1	-	3	945	c.651T>G	c.(649-651)acT>acG	p.T217T	FGFBP1_ENST00000259988.2_Silent_p.T217T	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	217	Sufficient for interaction with FGF2 and FGF2-induced effects.				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GAGAGCTCCAAGTCTCTCCAC	0.517													False	0	False	4:15937605	0	C	15937605	A	C	15937605	2	2	88	1	0	0	0	0	0	0	0	1	5900	59	3	4		4	FGFBP1	4	15937605	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	95492	15937605	175216671	4951	12663											
FGFBP2	83888	broad.mit.edu	37	chr4	15964245	15964245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggcttttcccagctcttCcatcgagtcctttcccagct	6	15	1	0	rs138174664		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15964245C>T	ENST00000259989.6	-	1	614	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	170						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCCAGCTCTTCCATCGAGTCC	0.602													False	0	False	4:15964245	0	T	15964245	C	T	15964245	3	4	88	1	0	0	0	0	1	0	0	0	5901	864	30	2	167	2	FGFBP2	4	15964245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26640	15964245	175190031	4952	12664											
FGFBP2	83888	broad.mit.edu	37	chr4	15964616	15964616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccccaagctgctgggaCgcatagtgcaggaatctctc	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15964616C>T	ENST00000259989.6	-	1	243	c.137G>A	c.(136-138)cGt>cAt	p.R46H	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	46						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTGCTGGGACGCATAGTGCA	0.597													False	0	False	4:15964616	0	T	15964616	C	T	15964616	3	4	88	1	0	0	0	0	1	0	0	0	5901	536	19	1	538	1	FGFBP2	4	15964616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	371	15964616	175189660	4953	12665											
TAPT1	202018	broad.mit.edu	37	chr4	16192999	16192999	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttacctccagcatgttgtaGatgatgtagagcttgatgac	10	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:16192999G>T	ENST00000405303.2	-	4	680	c.597C>A	c.(595-597)atC>atA	p.I199I	TAPT1_ENST00000399920.3_Silent_p.I88I|TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000304584.8_Silent_p.I25I	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	199						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GCATGTTGTAGATGATGTAGA	0.483													False	0	False	4:16192999	0	T	16192999	G	T	16192999	2	4	88	1	0	0	0	0	0	0	0	1	15636	932	33	3		3	TAPT1	4	16192999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228383	16192999	174961277	4954	12666											
QDPR	5860	broad.mit.edu	37	chr4	17510920	17510920	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcctgctcagtgaacgagtCtgtcattttaacaatgatgc	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17510920C>T	ENST00000281243.5	-	2	351	c.172G>A	c.(172-174)Gac>Aac	p.D58N	QDPR_ENST00000508623.1_Missense_Mutation_p.D58N|QDPR_ENST00000428702.2_Intron|QDPR_ENST00000513615.1_Missense_Mutation_p.D58N	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	58					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	GTGAACGAGTCTGTCATTTTA	0.512													False	0	False	4:17510920	0	T	17510920	C	T	17510920	3	4	88	1	0	0	0	0	1	0	0	0	12951	913	32	2	586	2	QDPR	4	17510920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1317921	17510920	173643356	4955	12667											
LAP3	51056	broad.mit.edu	37	chr4	17583965	17583965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaggcagctggaatcgacGaacaggaaaactggcatgaa	12	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17583965G>A	ENST00000226299.4	+	4	602	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	LAP3_ENST00000606142.1_Missense_Mutation_p.E79K	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	110					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGGAATCGACGAACAGGAAAA	0.443													False	0	False	4:17583965	0	A	17583965	G	A	17583965	3	1	88	1	0	0	0	0	1	0	0	0	8674	1059	37	1	342	1	LAP3	4	17583965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73045	17583965	173570311	4956	12668											
NCAPG	64151	broad.mit.edu	37	chr4	17844978	17844978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagatgagactaccaagacGagccaaaaccgcagcactag	10	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17844978G>A	ENST00000251496.2	+	21	3154	c.2978G>A	c.(2977-2979)cGa>cAa	p.R993Q	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	993					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CTACCAAGACGAGCCAAAACC	0.363													False	0	False	4:17844978	0	A	17844978	G	A	17844978	3	1	88	1	0	0	0	0	1	0	0	0	10275	1058	37	1	3060	1	NCAPG	4	17844978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	261013	17844978	173309298	4957	12669											
LCORL	254251	broad.mit.edu	37	chr4	17910775	17910775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtctaaggggccttcctgCtcttcctgaagggagttttc	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17910775C>T	ENST00000326877.4	-	5	748	c.624G>A	c.(622-624)gaG>gaA	p.E208E	LCORL_ENST00000539056.1_Silent_p.E121E|LCORL_ENST00000382226.5_Silent_p.E208E|LCORL_ENST00000382224.1_Silent_p.E124E	NM_153686.7	NP_710153.2	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGCCTTCCTGCTCTTCCTGAA	0.348													False	0	False	4:17910775	0	T	17910775	C	T	17910775	2	4	88	1	0	0	0	0	0	0	0	1	8741	796	28	2		2	LCORL	4	17910775	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65797	17910775	173243501	4958	12670											
LCORL	254251	broad.mit.edu	37	chr4	17963615	17963615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgagatgatagctcctctGttggtgttgactgtgaagaa	12	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17963615G>A	ENST00000326877.4	-	4	465	c.341C>T	c.(340-342)aCa>aTa	p.T114I	LCORL_ENST00000539056.1_Missense_Mutation_p.T27I|LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000382226.5_Missense_Mutation_p.T114I|LCORL_ENST00000382224.1_Missense_Mutation_p.T30I	NM_153686.7	NP_710153.2	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TAGCTCCTCTGTTGGTGTTGA	0.348													False	0	False	4:17963615	0	A	17963615	G	A	17963615	3	1	88	1	0	0	0	0	1	0	0	0	8741	1377	48	2	1668	2	LCORL	4	17963615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52840	17963615	173190661	4959	12671											
SLIT2	9353	broad.mit.edu	37	chr4	20544182	20544182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgtacttgcttggatacaGtcgtccgatgtagcaacaag	10	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20544182G>T	ENST00000504154.1	+	21	2461	c.2209G>T	c.(2209-2211)Gtc>Ttc	p.V737F	SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Missense_Mutation_p.V741F|SLIT2_ENST00000503823.1_Missense_Mutation_p.V729F|SLIT2_ENST00000503837.1_Missense_Mutation_p.V733F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	737	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTTGGATACAGTCGTCCGATG	0.413													False	0	False	4:20544182	0	T	20544182	G	T	20544182	3	4	88	1	0	0	0	0	1	0	0	0	14820	1029	36	3	2291	3	SLIT2	4	20544182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2580567	20544182	170610094	4960	12672											
SLIT2	9353	broad.mit.edu	37	chr4	20550138	20550138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaacaacagaataagcacGctttctaatcagagcttcag	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20550138G>A	ENST00000504154.1	+	23	2625	c.2373G>A	c.(2371-2373)acG>acA	p.T791T	SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Silent_p.T795T|SLIT2_ENST00000503823.1_Silent_p.T783T|SLIT2_ENST00000503837.1_Silent_p.T787T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	791					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAATAAGCACGCTTTCTAATC	0.368													False	0	False	4:20550138	0	A	20550138	G	A	20550138	2	1	88	1	0	0	0	0	0	0	0	1	14820	1074	38	1		1	SLIT2	4	20550138	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5956	20550138	170604138	4961	12673											
SLIT2	9353	broad.mit.edu	37	chr4	20555519	20555519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataaggagcctggaattgctCgttgtgctggtcctggagaa	14	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20555519C>T	ENST00000504154.1	+	26	2905	c.2653C>T	c.(2653-2655)Cgt>Tgt	p.R885C	SLIT2_ENST00000273739.5_Missense_Mutation_p.R889C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R877C|SLIT2_ENST00000503837.1_Missense_Mutation_p.R881C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	885	LRRCT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGAATTGCTCGTTGTGCTGG	0.408													False	0	False	4:20555519	0	T	20555519	C	T	20555519	3	4	88	1	0	0	0	0	1	0	0	0	14820	884	31	1	2755	1	SLIT2	4	20555519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5381	20555519	170598757	4962	12674											
SLIT2	9353	broad.mit.edu	37	chr4	20568888	20568888	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgaattaattttcaggtcCtgtggatgtcaatattctag	8	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20568888C>A	ENST00000504154.1	+	27	2981	c.2729C>A	c.(2728-2730)cCt>cAt	p.P910H	SLIT2_ENST00000273739.5_Missense_Mutation_p.P914H|SLIT2_ENST00000503823.1_Missense_Mutation_p.P902H|SLIT2_ENST00000503837.1_Missense_Mutation_p.P906H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	910					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTTCAGGTCCTGTGGATGTC	0.333													False	0	False	4:20568888	0	A	20568888	C	A	20568888	3	1	88	1	0	0	0	0	1	0	0	0	14820	681	24	3	2835	3	SLIT2	4	20568888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13369	20568888	170585388	4963	12675											
SLIT2	9353	broad.mit.edu	37	chr4	20597397	20597397	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagacaacaagtgtaaaaAcggagcccactgcacagatg	9	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20597397A>G	ENST00000504154.1	+	31	3512	c.3260A>G	c.(3259-3261)aAc>aGc	p.N1087S	SLIT2_ENST00000273739.5_Missense_Mutation_p.N1100S|SLIT2_ENST00000503823.1_Missense_Mutation_p.N1079S|SLIT2_ENST00000503837.1_Missense_Mutation_p.N1083S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1087	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.N1087T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGTGTAAAAACGGAGCCCAC	0.468													False	0	True	4:20597397	0	G	20597397	A	G	20597397	3	3	88	1	0	0	0	0	1	0	0	0	14820	43	2	4	3382	4	SLIT2	4	20597397	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28509	20597397	170556879	4964	12676											
SLIT2	9353	broad.mit.edu	37	chr4	20599956	20599956	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaccatatcgcggtagaactCtatcgggggcgtgttcgtgc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20599956C>A	ENST00000504154.1	+	33	3882	c.3630C>A	c.(3628-3630)ctC>ctA	p.L1210L	SLIT2_ENST00000273739.5_Silent_p.L1223L|SLIT2_ENST00000503823.1_Silent_p.L1202L|SLIT2_ENST00000503837.1_Silent_p.L1206L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1210	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGGTAGAACTCTATCGGGGGC	0.473													False	0	False	4:20599956	0	A	20599956	C	A	20599956	2	1	88	1	0	0	0	0	0	0	0	1	14820	900	32	3		3	SLIT2	4	20599956	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2559	20599956	170554320	4965	12677											
PACRGL	133015	broad.mit.edu	37	chr4	20706376	20706376	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtcaaccagttctccagAgtctgcaagaaaacttcatc	6	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20706376A>C	ENST00000360916.5	+	3	537	c.146A>C	c.(145-147)gAg>gCg	p.E49A	PACRGL_ENST00000502374.1_Missense_Mutation_p.E49A|PACRGL_ENST00000295290.8_Missense_Mutation_p.E49A|PACRGL_ENST00000503585.1_Missense_Mutation_p.E49A|PACRGL_ENST00000538990.1_Missense_Mutation_p.E49A|PACRGL_ENST00000444671.2_Missense_Mutation_p.E49A|PACRGL_ENST00000502938.1_Missense_Mutation_p.E49A|PACRGL_ENST00000507634.1_Missense_Mutation_p.E49A|PACRGL_ENST00000513459.1_Missense_Mutation_p.E49A	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	49							binding			endometrium(2)|lung(7)|prostate(1)	10						AGTTCTCCAGAGTCTGCAAGA	0.383													False	0	False	4:20706376	0	C	20706376	A	C	20706376	3	2	88	1	0	0	0	0	1	0	0	0	11439	304	11	4	152	4	PACRGL	4	20706376	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	106420	20706376	170447900	4966	12678											
KCNIP4	80333	broad.mit.edu	37	chr4	20751322	20751322	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtggtctgtatcaaatGcattgaacagaaaatgtgca	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20751322G>A	ENST00000382148.3	-	4	653	c.317C>T	c.(316-318)gCa>gTa	p.A106V	KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000359001.5_Missense_Mutation_p.A69V|KCNIP4_ENST00000382150.4_Missense_Mutation_p.A110V|KCNIP4_ENST00000447367.2_Missense_Mutation_p.A97V|KCNIP4_ENST00000382152.2_Missense_Mutation_p.A131V|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000509207.1_Missense_Mutation_p.A69V	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	131	EF-hand 1; degenerate.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TGTATCAAATGCATTGAACAG	0.353													False	0	False	4:20751322	0	A	20751322	G	A	20751322	3	1	88	1	0	0	0	0	1	0	0	0	8092	1319	46	2	380	2	KCNIP4	4	20751322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44946	20751322	170402954	4967	12679											
KCNIP4	80333	broad.mit.edu	37	chr4	20852254	20852254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagggcttcaggccgatgcCtgacggtggccatctccagt	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20852254C>A	ENST00000382148.3	-	2	461	c.125G>T	c.(124-126)aGg>aTg	p.R42M	KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000359001.5_Missense_Mutation_p.R5M|KCNIP4_ENST00000382150.4_Missense_Mutation_p.R46M|KCNIP4_ENST00000447367.2_Missense_Mutation_p.R33M|KCNIP4_ENST00000382152.2_Missense_Mutation_p.R67M|KCNIP4_ENST00000509207.1_Missense_Mutation_p.R5M	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	67	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AGGCCGATGCCTGACGGTGGC	0.483													False	0	False	4:20852254	0	A	20852254	C	A	20852254	3	1	88	1	0	0	0	0	1	0	0	0	8092	681	24	3	580	3	KCNIP4	4	20852254	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100932	20852254	170302022	4968	12680											
GPR125	166647	broad.mit.edu	37	chr4	22390256	22390256	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaagaaacagccaaagccCcaaacatccacagtgcaaca	5	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390256C>A	ENST00000334304.5	-	19	3307	c.3038G>T	c.(3037-3039)gGg>gTg	p.G1013V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1013					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGCCAAAGCCCCAAACATCCA	0.443													False	0	True	4:22390256	0	A	22390256	C	A	22390256	3	1	88	1	0	0	0	0	1	0	0	0	6685	623	22	3	931	3	GPR125	4	22390256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1538002	22390256	168764020	4969	12681											
GPR125	166647	broad.mit.edu	37	chr4	22390383	22390383	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agacattgaatcctgatgatTtatttcgccattttcattgg	7	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390383T>G	ENST00000334304.5	-	19	3180	c.2911A>C	c.(2911-2913)Aat>Cat	p.N971H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	971					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCCTGATGATTTATTTCGCCA	0.433													False	0	True	4:22390383	0	G	22390383	T	G	22390383	3	3	88	1	0	0	0	0	1	0	0	0	6685	1841	64	4	1058	4	GPR125	4	22390383	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	127	22390383	168763893	4970	12682											
GPR125	166647	broad.mit.edu	37	chr4	22390718	22390718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaaatactcactagggtgCgtttggccgactgccgtaat	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390718C>T	ENST00000334304.5	-	18	2985	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	906					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.A906T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CACTAGGGTGCGTTTGGCCGA	0.408													False	0	False	4:22390718	0	T	22390718	C	T	22390718	3	4	88	1	0	0	0	0	1	0	0	0	6685	768	27	1	1257	1	GPR125	4	22390718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335	22390718	168763558	4971	12683											
GPR125	166647	broad.mit.edu	37	chr4	22414813	22414813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgccataccattaaaaCtgcatagttactaagggagt	7	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22414813C>T	ENST00000334304.5	-	14	2493	c.2224G>A	c.(2224-2226)Gtt>Att	p.V742I	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	742	GPS.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACCATTAAAACTGCATAGTTA	0.353													False	0	True	4:22414813	0	T	22414813	C	T	22414813	3	4	88	1	0	0	0	0	1	0	0	0	6685	565	20	2	1765	2	GPR125	4	22414813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24095	22414813	168739463	4972	12684											
GPR125	166647	broad.mit.edu	37	chr4	22414965	22414965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccatgtgcaattcgaCgcagtgtcacattaacaggg	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22414965C>T	ENST00000334304.5	-	14	2341	c.2072G>A	c.(2071-2073)cGt>cAt	p.R691H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	691					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGCAATTCGACGCAGTGTCAC	0.438													False	0	False	4:22414965	0	T	22414965	C	T	22414965	3	4	88	1	0	0	0	0	1	0	0	0	6685	536	19	1	1917	1	GPR125	4	22414965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152	22414965	168739311	4973	12685											
GPR125	166647	broad.mit.edu	37	chr4	22422568	22422568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttaaagctcagctgcttatCcaggtttccctctggatccc	7	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22422568C>A	ENST00000334304.5	-	12	2019	c.1750G>T	c.(1750-1752)Gat>Tat	p.D584Y	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.D358Y|GPR125_ENST00000502482.1_Missense_Mutation_p.D584Y	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	584					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGCTGCTTATCCAGGTTTCCC	0.448													False	0	False	4:22422568	0	A	22422568	C	A	22422568	3	1	88	1	0	0	0	0	1	0	0	0	6685	855	30	3	2247	3	GPR125	4	22422568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7603	22422568	168731708	4974	12686											
GPR125	166647	broad.mit.edu	37	chr4	22425825	22425825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacttactgttgaataaaCgtgagctccaccggctagcc	8	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22425825C>T	ENST00000334304.5	-	11	1863	c.1594G>A	c.(1594-1596)Gtt>Att	p.V532I	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.V306I|GPR125_ENST00000502482.1_Missense_Mutation_p.V532I	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	532					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTTGAATAAACGTGAGCTCCA	0.483													False	0	True	4:22425825	0	T	22425825	C	T	22425825	3	4	88	1	0	0	0	0	1	0	0	0	6685	536	19	1	2407	1	GPR125	4	22425825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3257	22425825	168728451	4975	12687											
GBA3	57733	broad.mit.edu	37	chr4	22737808	22737808	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtctgttacctgatgggaCgacaggtttcatcaaccaga	10	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22737808C>T	ENST00000508166.1	+	0	365				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.2_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.T88K(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTGATGGGACGACAGGTTTC	0.413													False	0	False	4:22737808	0	T	22737808	C	T	22737808	1	4	88	0	1	0	0	0	0	0	0	0	6311	536	19	1		1	GBA3	4	22737808	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	311983	22737808	168416468	4976	12688											
GBA3	57733	broad.mit.edu	37	chr4	22749357	22749357	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtgtctgaccaggaagCtgctaaaagagccatcactt	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22749357C>A	ENST00000508166.1	+	0	827				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.2_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACCAGGAAGCTGCTAAAAGA	0.428													False	0	False	4:22749357	0	A	22749357	C	A	22749357	1	1	88	0	1	0	0	0	0	0	0	0	6311	797	28	3		3	GBA3	4	22749357	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11549	22749357	168404919	4977	12689											
GBA3	57733	broad.mit.edu	37	chr4	22820391	22820391	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagtatattgtgcatggtctCttctggataactttgagtgg	11	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22820391C>T	ENST00000508264.1	+	0	213				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.2_RNA			Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCATGGTCTCTTCTGGATAA	0.413													False	0	False	4:22820391	0	T	22820391	C	T	22820391	1	4	88	0	1	0	0	0	0	0	0	0	6311	913	32	2		2	GBA3	4	22820391	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71034	22820391	168333885	4978	12690											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815376	23815376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatatggtgatcgggaacacGacctgtgtcgagaaaaggac	13	7	0	2	rs17847360	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23815376G>A	ENST00000264867.2	-	8	1849	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	577	Arg/Ser-rich.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCGGGAACACGACCTGTGTCG	0.458													False	0	False	4:23815376	0	A	23815376	G	A	23815376	3	1	88	1	0	0	0	0	1	0	0	0	12369	1059	37	1	690	1	PPARGC1A	4	23815376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	994985	23815376	167338900	4979	12691											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815518	23815518	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacattgaacaatgaataggAttgcgtgccatcccaagggt	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23815518A>T	ENST00000264867.2	-	8	1707	c.1588T>A	c.(1588-1590)Tcc>Acc	p.S530T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	530					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AATGAATAGGATTGCGTGCCA	0.413													False	0	False	4:23815518	0	T	23815518	A	T	23815518	3	4	88	1	0	0	0	0	1	0	0	0	12369	333	12	5	832	5	PPARGC1A	4	23815518	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	142	23815518	167338758	4980	12692											
PPARGC1A	10891	broad.mit.edu	37	chr4	23833186	23833186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagggttcttactagagaCggctcttctgcctcctgggg	14	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23833186C>T	ENST00000264867.2	-	3	542	c.423G>A	c.(421-423)ccG>ccA	p.P141P	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	141					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTACTAGAGACGGCTCTTCTG	0.517													False	0	False	4:23833186	0	T	23833186	C	T	23833186	2	4	88	1	0	0	0	0	0	0	0	1	12369	523	19	1		1	PPARGC1A	4	23833186	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17668	23833186	167321090	4981	12693											
DHX15	1665	broad.mit.edu	37	chr4	24538792	24538792	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggggcgaacaaaacactgTgggactaaacaaggttggta	14	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24538792T>C	ENST00000336812.4	-	11	1947	c.1791A>G	c.(1789-1791)ccA>ccG	p.P597P	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	597					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CAAAACACTGTGGGACTAAAC	0.507													False	0	True	4:24538792	0	C	24538792	T	C	24538792	2	2	88	1	0	0	0	0	0	0	0	1	4531	1683	59	4		4	DHX15	4	24538792	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	705606	24538792	166615484	4982	12694											
DHX15	1665	broad.mit.edu	37	chr4	24543646	24543646	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgattcgaggattgtagacCtattggaattgaaataacac	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24543646C>T	ENST00000336812.4	-	8	1492		c.e8-1			NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15						mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GATTGTAGACCTATTGGAATT	0.408													False	0	False	4:24543646	0	T	24543646	C	T	24543646	5	4	88	1	0	0	0	0	0	0	1	0	4531	695	24	2	1080	2	DHX15	4	24543646	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4854	24543646	166610630	4983	12695											
DHX15	1665	broad.mit.edu	37	chr4	24578221	24578221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttttctttctccctctctCgctctctatctcctctatca	1	18	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24578221C>T	ENST00000336812.4	-	2	308	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	51					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ctccctctcTCGCTCTCTATC	0.448													False	0	False	4:24578221	0	T	24578221	C	T	24578221	3	4	88	1	0	0	0	0	1	0	0	0	4531	884	31	1	2287	1	DHX15	4	24578221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34575	24578221	166576055	4984	12696											
ZCCHC4	29063	broad.mit.edu	37	chr4	25363599	25363599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctactgaagaagggtAcaggtaagatcacagtggaa	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25363599A>G	ENST00000302874.4	+	9	1154	c.1130A>G	c.(1129-1131)tAc>tGc	p.Y377C		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	377							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GAAGAAGGGTACAGGTAAGAT	0.383													False	0	False	4:25363599	0	G	25363599	A	G	25363599	3	3	88	1	0	0	0	0	1	0	0	0	17673	391	14	4	1164	4	ZCCHC4	4	25363599	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	785378	25363599	165790677	4985	12697											
ZCCHC4	29063	broad.mit.edu	37	chr4	25370758	25370758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggagaaagaaaaggagggAaagagcccatcaatatcttg	12	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25370758A>G	ENST00000302874.4	+	13	1538	c.1514A>G	c.(1513-1515)gAa>gGa	p.E505G		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	505							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				AAAAGGAGGGAAAGAGCCCAT	0.388													False	0	True	4:25370758	0	G	25370758	A	G	25370758	3	3	88	1	0	0	0	0	1	0	0	0	17673	246	9	4	1564	4	ZCCHC4	4	25370758	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7159	25370758	165783518	4986	12698											
ANAPC4	29945	broad.mit.edu	37	chr4	25390499	25390499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attattaagctcttgggagaCgtcaggtaaatcttacagat	9	6	3	2	rs140263991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25390499C>T	ENST00000315368.3	+	7	652	c.510C>T	c.(508-510)gaC>gaT	p.D170D	ANAPC4_ENST00000510092.1_Silent_p.D170D	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	170					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TCTTGGGAGACGTCAGGTAAA	0.294													False	0	False	4:25390499	0	T	25390499	C	T	25390499	2	4	88	1	0	0	0	0	0	0	0	1	604	535	19	1		1	ANAPC4	4	25390499	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19741	25390499	165763777	4987	12699											
ANAPC4	29945	broad.mit.edu	37	chr4	25393972	25393972	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttacagcttgaaactaatCtgttgtactctttcttacct	4	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25393972C>A	ENST00000315368.3	+	10	860	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L240M	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TGAAACTAATCTGTTGTACTC	0.358													False	0	False	4:25393972	0	A	25393972	C	A	25393972	3	1	88	1	0	0	0	0	1	0	0	0	604	912	32	3	752	3	ANAPC4	4	25393972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3473	25393972	165760304	4988	12700											
ANAPC4	29945	broad.mit.edu	37	chr4	25418146	25418146	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggaagagatagactcttggtCcagctgcctttgtctttagt	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25418146C>A	ENST00000315368.3	+	27	2143	c.2001C>A	c.(1999-2001)gtC>gtA	p.V667V	ANAPC4_ENST00000510092.1_Silent_p.V668V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	667					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GACTCTTGGTCCAGCTGCCTT	0.373													False	0	False	4:25418146	0	A	25418146	C	A	25418146	2	1	88	1	0	0	0	0	0	0	0	1	604	842	30	3		3	ANAPC4	4	25418146	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24174	25418146	165736130	4989	12701											
ANAPC4	29945	broad.mit.edu	37	chr4	25418162	25418162	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtccagctgcctttgtctTtagtatataacagtgaagat	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25418162T>G	ENST00000315368.3	+	27	2159	c.2017T>G	c.(2017-2019)Tta>Gta	p.L673V	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L674V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	673					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GCCTTTGTCTTTAGTATATAA	0.358													False	0	True	4:25418162	0	G	25418162	T	G	25418162	3	3	88	1	0	0	0	0	1	0	0	0	604	1838	64	4	2119	4	ANAPC4	4	25418162	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16	25418162	165736114	4990	12702											
SLC34A2	10568	broad.mit.edu	37	chr4	25671453	25671453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactaagcccttcacaaagCtcattgtccaggtaacttag	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25671453C>T	ENST00000382051.3	+	7	870	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	SLC34A2_ENST00000504570.1_Missense_Mutation_p.L273F|SLC34A2_ENST00000503434.1_Missense_Mutation_p.L273F	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	274					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTTCACAAAGCTCATTGTCCA	0.463			T	ROS1	NSCLC								False	0	False	4:25671453	0	T	25671453	C	T	25671453	3	4	88	1	0	0	0	0	1	0	0	0	14648	797	28	2	842	2	SLC34A2	4	25671453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253291	25671453	165482823	4991	12703											
SLC34A2	10568	broad.mit.edu	37	chr4	25672428	25672428	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaaacaagagtcttgtcaaGatttggtgcaaaacttttac	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25672428G>A	ENST00000382051.3	+	8	950	c.900G>A	c.(898-900)aaG>aaA	p.K300K	SLC34A2_ENST00000504570.1_Silent_p.K299K|SLC34A2_ENST00000503434.1_Silent_p.K299K	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	300					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTCTTGTCAAGATTTGGTGCA	0.408			T	ROS1	NSCLC								False	0	False	4:25672428	0	A	25672428	G	A	25672428	2	1	88	1	0	0	0	0	0	0	0	1	14648	933	33	2		2	SLC34A2	4	25672428	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	975	25672428	165481848	4992	12704											
SLC34A2	10568	broad.mit.edu	37	chr4	25674748	25674748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttccacctcccggatcttgCtgtgggcaccatcttgctca	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25674748C>A	ENST00000382051.3	+	10	1138	c.1088C>A	c.(1087-1089)gCt>gAt	p.A363D	SLC34A2_ENST00000504570.1_Missense_Mutation_p.A362D|SLC34A2_ENST00000503434.1_Missense_Mutation_p.A362D	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	363					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCGGATCTTGCTGTGGGCACC	0.532			T	ROS1	NSCLC								False	0	False	4:25674748	0	A	25674748	C	A	25674748	3	1	88	1	0	0	0	0	1	0	0	0	14648	797	28	3	1122	3	SLC34A2	4	25674748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2320	25674748	165479528	4993	12705											
SLC34A2	10568	broad.mit.edu	37	chr4	25677760	25677760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctcttgtgttgcagatcGccctgtgccactttttcttc	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25677760G>A	ENST00000382051.3	+	13	1512	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	SLC34A2_ENST00000504570.1_Missense_Mutation_p.A487T|SLC34A2_ENST00000503434.1_Missense_Mutation_p.A487T	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	488					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.A488S(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTTGCAGATCGCCCTGTGCCA	0.602			T	ROS1	NSCLC								False	0	True	4:25677760	0	A	25677760	G	A	25677760	3	1	88	1	0	0	0	0	1	0	0	0	14648	1087	38	1	1508	1	SLC34A2	4	25677760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3012	25677760	165476516	4994	12706											
SLC34A2	10568	broad.mit.edu	37	chr4	25678117	25678117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagccctgggatgccgtcGtctccaagttcaccggctgc	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25678117G>A	ENST00000382051.3	+	13	1869	c.1819G>A	c.(1819-1821)Gtc>Atc	p.V607I	SLC34A2_ENST00000504570.1_Missense_Mutation_p.V606I|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V606I	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	607					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGATGCCGTCGTCTCCAAGTT	0.647			T	ROS1	NSCLC								False	0	False	4:25678117	0	A	25678117	G	A	25678117	3	1	88	1	0	0	0	0	1	0	0	0	14648	1145	40	1	1865	1	SLC34A2	4	25678117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	357	25678117	165476159	4995	12707											
SLC34A2	10568	broad.mit.edu	37	chr4	25678182	25678182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcgtgtgctgccgcgcGtgctgcttgctgtgtgactg	16	12	0	1	rs141191689	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25678182G>A	ENST00000382051.3	+	13	1934	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A	SLC34A2_ENST00000504570.1_Silent_p.A627A|SLC34A2_ENST00000503434.1_Silent_p.A627A	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	628	Cys-rich.				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				gctgccgcgcgtgctgcttgc	0.657			T	ROS1	NSCLC								False	0	True	4:25678182	0	A	25678182	G	A	25678182	2	1	88	1	0	0	0	0	0	0	0	1	14648	1132	40	1		1	SLC34A2	4	25678182	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	25678182	165476094	4996	12708											
SEL1L3	23231	broad.mit.edu	37	chr4	25806207	25806207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatccagtctcataaaagaCtgcaaggtagtaggatgctt	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25806207C>A	ENST00000399878.3	-	10	1854	c.1732G>T	c.(1732-1734)Gtc>Ttc	p.V578F	SEL1L3_ENST00000264868.5_Missense_Mutation_p.V543F|SEL1L3_ENST00000502949.1_Missense_Mutation_p.V425F	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	578						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCATAAAAGACTGCAAGGTAG	0.423													False	0	False	4:25806207	0	A	25806207	C	A	25806207	3	1	88	1	0	0	0	0	1	0	0	0	14093	565	20	3	1726	3	SEL1L3	4	25806207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128025	25806207	165348069	4997	12709											
SEL1L3	23231	broad.mit.edu	37	chr4	25831741	25831741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatggtctgattgtggtagCttttcaaatcctgtccaatg	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25831741C>T	ENST00000399878.3	-	6	1258	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	SEL1L3_ENST00000264868.5_Missense_Mutation_p.S344N|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S226N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	379						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATTGTGGTAGCTTTTCAAATC	0.403													False	0	True	4:25831741	0	T	25831741	C	T	25831741	3	4	88	1	0	0	0	0	1	0	0	0	14093	797	28	2	2338	2	SEL1L3	4	25831741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25534	25831741	165322535	4998	12710											
RBPJ	3516	broad.mit.edu	37	chr4	26417218	26417218	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtgcatttattgggataGgaaatagtgaccaagaaatg	12	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26417218G>T	ENST00000342320.4	+	4	450	c.274G>T	c.(274-276)Gga>Tga	p.G92*	RBPJ_ENST00000504907.1_Nonsense_Mutation_p.G92*|RBPJ_ENST00000361572.6_Nonsense_Mutation_p.G106*|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.G93*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.G106*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.G92*|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.G71*|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.G91*			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	106					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TATTGGGATAGGAAATAGTGA	0.413													False	0	False	4:26417218	0	T	26417218	G	T	26417218	4	4	88	1	0	0	0	0	0	1	0	0	13240	1001	35	3	393	3	RBPJ	4	26417218	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	585477	26417218	164737058	4999	12711											
RBPJ	3516	broad.mit.edu	37	chr4	26430396	26430396	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatgcagatgatcctgtgTcacaactccataaatgtgca	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26430396T>G	ENST00000342320.4	+	8	975	c.799T>G	c.(799-801)Tca>Gca	p.S267A	RBPJ_ENST00000504907.1_Missense_Mutation_p.S267A|RBPJ_ENST00000361572.6_Missense_Mutation_p.S281A|RBPJ_ENST00000348160.4_Missense_Mutation_p.S268A|RBPJ_ENST00000342295.1_Missense_Mutation_p.S281A|RBPJ_ENST00000355476.3_Missense_Mutation_p.S267A|RBPJ_ENST00000507561.1_Missense_Mutation_p.S246A|RBPJ_ENST00000345843.3_Missense_Mutation_p.S266A			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	281					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGATCCTGTGTCACAACTCCA	0.313													False	0	False	4:26430396	0	G	26430396	T	G	26430396	3	3	88	1	0	0	0	0	1	0	0	0	13240	1667	58	4	934	4	RBPJ	4	26430396	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13178	26430396	164723880	5000	12712											
CCKAR	886	broad.mit.edu	37	chr4	26483316	26483316	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagaacctggacagagaggCtcctgtggtcccgccttcct	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26483316C>A	ENST00000295589.3	-	5	1425	c.1231G>T	c.(1231-1233)Gcc>Tcc	p.A411S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	411					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GACAGAGAGGCTCCTGTGGTC	0.667													False	0	False	4:26483316	0	A	26483316	C	A	26483316	3	1	88	1	0	0	0	0	1	0	0	0	2901	797	28	3	59	3	CCKAR	4	26483316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52920	26483316	164670960	5001	12713											
CCKAR	886	broad.mit.edu	37	chr4	26483762	26483762	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acccatcgctgtcctcatatTtgccgctgctggtggtgcta	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26483762T>G	ENST00000295589.3	-	5	979	c.785A>C	c.(784-786)aAa>aCa	p.K262T		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	262					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCCTCATATTTGCCGCTGCT	0.617													False	0	True	4:26483762	0	G	26483762	T	G	26483762	3	3	88	1	0	0	0	0	1	0	0	0	2901	1841	64	4	505	4	CCKAR	4	26483762	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	446	26483762	164670514	5002	12714											
CCKAR	886	broad.mit.edu	37	chr4	26491823	26491823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagaaaagcgtctcattttCgagcccgagttcacagggag	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26491823C>T	ENST00000295589.3	-	1	261	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	23					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCTCATTTTCGAGCCCGAGT	0.483													False	0	True	4:26491823	0	T	26491823	C	T	26491823	3	4	88	1	0	0	0	0	1	0	0	0	2901	893	31	1	1239	1	CCKAR	4	26491823	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8061	26491823	164662453	5003	12715											
TBC1D19	55296	broad.mit.edu	37	chr4	26638889	26638889	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatgtgcactgaactgagTatcccactggcacgaaaggt	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26638889T>C	ENST00000264866.4	+	5	629	c.351T>C	c.(349-351)agT>agC	p.S117S	TBC1D19_ENST00000511789.1_Silent_p.S52S|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	117						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTGAACTGAGTATCCCACTGG	0.303													False	0	False	4:26638889	0	C	26638889	T	C	26638889	2	2	88	1	0	0	0	0	0	0	0	1	15689	1635	57	4		4	TBC1D19	4	26638889	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	147066	26638889	164515387	5004	12716											
PCDH7	5099	broad.mit.edu	37	chr4	30723931	30723931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcaggccatcctacgggTcctcatcaccgacgtgaacg	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:30723931T>C	ENST00000361762.2	+	1	1895	c.887T>C	c.(886-888)gTc>gCc	p.V296A	PCDH7_ENST00000543491.1_Missense_Mutation_p.V296A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	296	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATCCTACGGGTCCTCATCACC	0.687													False	0	True	4:30723931	0	C	30723931	T	C	30723931	3	2	88	1	0	0	0	0	1	0	0	0	11584	1667	58	4	889	4	PCDH7	4	30723931	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4085042	30723931	160430345	5005	12717											
PCDH7	5099	broad.mit.edu	37	chr4	30725148	30725148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccacaatgtcttttgacCgggaacatcagaccacatac	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:30725148C>T	ENST00000361762.2	+	1	3112	c.2104C>T	c.(2104-2106)Cgg>Tgg	p.R702W	PCDH7_ENST00000543491.1_Missense_Mutation_p.R702W	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	702	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GTCTTTTGACCGGGAACATCA	0.468													False	0	True	4:30725148	0	T	30725148	C	T	30725148	3	4	88	1	0	0	0	0	1	0	0	0	11584	643	23	1	2106	1	PCDH7	4	30725148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1217	30725148	160429128	5006	12718											
ARAP2	116984	broad.mit.edu	37	chr4	36118684	36118684	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccacctttagaacttaccCgaattataatactacagtcg	4	11	0	1	rs139889832		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:36118684C>T	ENST00000303965.4	-	25	4526	c.4037G>A	c.(4036-4038)cGg>cAg	p.R1346Q		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1346	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGAACTTACCCGAATTATAAT	0.328													False	0	True	4:36118684	0	T	36118684	C	T	36118684	5	4	88	1	0	0	0	0	0	0	1	0	841	666	23	1	1113	1	ARAP2	4	36118684	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5393536	36118684	155035592	5007	12719											
C4orf19	55286	broad.mit.edu	37	chr4	37592370	37592370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagcatggtttgaatacGcccttctctgtgaggagaag	15	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:37592370G>A	ENST00000284437.6	+	3	871	c.693G>A	c.(691-693)acG>acA	p.T231T	C4orf19_ENST00000381980.4_Silent_p.T231T|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	231										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GTTTGAATACGCCCTTCTCTG	0.458													False	0	True	4:37592370	0	A	37592370	G	A	37592370	2	1	88	1	0	0	0	0	0	0	0	1	2270	1074	38	1		1	C4orf19	4	37592370	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1473686	37592370	153561906	5008	12720											
TLR1	7096	broad.mit.edu	37	chr4	38798201	38798201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccaaataagtcctcctgGccatgagacttttgagcttg	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38798201G>A	ENST00000308979.2	-	4	2525	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V	TLR1_ENST00000502213.2_Missense_Mutation_p.A751V	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	751	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGTCCTCCTGGCCATGAGACT	0.443													False	0	False	4:38798201	0	A	38798201	G	A	38798201	3	1	88	1	0	0	0	0	1	0	0	0	16031	1203	42	2	112	2	TLR1	4	38798201	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1205831	38798201	152356075	5009	12721											
TLR1	7096	broad.mit.edu	37	chr4	38800334	38800334	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttctgggataggtctttaGgaacgtggatgagaccgttt	13	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38800334G>T	ENST00000308979.2	-	4	392	c.119C>A	c.(118-120)cCt>cAt	p.P40H	TLR1_ENST00000502213.2_Missense_Mutation_p.P40H	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	40					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TAGGTCTTTAGGAACGTGGAT	0.323													False	0	False	4:38800334	0	T	38800334	G	T	38800334	3	4	88	1	0	0	0	0	1	0	0	0	16031	1000	35	3	2245	3	TLR1	4	38800334	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2133	38800334	152353942	5010	12722											
TLR1	7096	broad.mit.edu	37	chr4	38800423	38800423	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctgaagtattaacatgaaGataatggcaaaatggaagat	9	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38800423G>T	ENST00000308979.2	-	4	303	c.30C>A	c.(28-30)atC>atA	p.I10I	TLR1_ENST00000502213.2_Silent_p.I10I	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	10					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTAACATGAAGATAATGGCAA	0.343													False	0	False	4:38800423	0	T	38800423	G	T	38800423	2	4	88	1	0	0	0	0	0	0	0	1	16031	932	33	3		3	TLR1	4	38800423	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89	38800423	152353853	5011	12723											
TLR6	10333	broad.mit.edu	37	chr4	38829804	38829804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagacaaatttaacaccaCtatactctcaacccaagtgc	4	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38829804C>A	ENST00000436693.2	-	2	1410	c.1291G>T	c.(1291-1293)Gtg>Ttg	p.V431L	TLR6_ENST00000381950.1_Missense_Mutation_p.V431L	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	431					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAACACCACTATACTCTCA	0.373													False	0	False	4:38829804	0	A	38829804	C	A	38829804	3	1	88	1	0	0	0	0	1	0	0	0	16037	565	20	3	1103	3	TLR6	4	38829804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29381	38829804	152324472	5012	12724											
WDR19	57728	broad.mit.edu	37	chr4	39191347	39191347	+	Translation_Start_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagaaatctagctgcaTttatctttgggatgccaaca	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39191347T>G	ENST00000288634.7	+	0	265				WDR19_ENST00000399820.3_Missense_Mutation_p.I79S|WDR19_ENST00000506503.1_Missense_Mutation_p.I79S			Q8NEZ3	WDR19_HUMAN	WD repeat domain 19						cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TCTAGCTGCATTTATCTTTGG	0.358													False	0	True	4:39191347	0	G	39191347	T	G	39191347	1	3	88	1	0	0	0	0	0	0	0	0	17363	1493	52	4		4	WDR19	4	39191347	Translation_Start_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	361543	39191347	151962929	5013	12725											
WDR19	57728	broad.mit.edu	37	chr4	39219675	39219675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtggatgataagtgcCgtatcttatgccatgcctta	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39219675C>T	ENST00000399820.3	+	14	1583	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	WDR19_ENST00000506503.1_Silent_p.A475A|WDR19_ENST00000288634.7_Missense_Mutation_p.R317C	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	477					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TGATAAGTGCCGTATCTTATG	0.368													False	0	False	4:39219675	0	T	39219675	C	T	39219675	3	4	88	1	0	0	0	0	1	0	0	0	17363	652	23	1	1483	1	WDR19	4	39219675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28328	39219675	151934601	5014	12726											
RFC1	5981	broad.mit.edu	37	chr4	39291557	39291557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcttcattgtattccgaatCcagggatgggcttgtgctgt	11	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39291557C>A	ENST00000381897.1	-	24	3407	c.3274G>T	c.(3274-3276)Gat>Tat	p.D1092Y	RFC1_ENST00000349703.2_Missense_Mutation_p.D1091Y	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1092					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TATTCCGAATCCAGGGATGGG	0.403													False	0	False	4:39291557	0	A	39291557	C	A	39291557	3	1	88	1	0	0	0	0	1	0	0	0	13323	855	30	3	180	3	RFC1	4	39291557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71882	39291557	151862719	5015	12727											
RFC1	5981	broad.mit.edu	37	chr4	39310294	39310294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaactcttttgccagtttCggagccagcgtaggagtttg	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39310294C>T	ENST00000381897.1	-	13	1980	c.1847G>A	c.(1846-1848)cGa>cAa	p.R616Q	RFC1_ENST00000349703.2_Missense_Mutation_p.R616Q	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	616					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTGCCAGTTTCGGAGCCAGCG	0.438													False	0	True	4:39310294	0	T	39310294	C	T	39310294	3	4	88	1	0	0	0	0	1	0	0	0	13323	884	31	1	1648	1	RFC1	4	39310294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18737	39310294	151843982	5016	12728											
RFC1	5981	broad.mit.edu	37	chr4	39322915	39322915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctagtattacctttatgaGgatatttatgtttttctgct	7	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39322915G>A	ENST00000381897.1	-	8	933	c.800C>T	c.(799-801)cCt>cTt	p.P267L	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Missense_Mutation_p.P267L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	267					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACCTTTATGAGGATATTTATG	0.323													False	0	False	4:39322915	0	A	39322915	G	A	39322915	3	1	88	1	0	0	0	0	1	0	0	0	13323	1000	35	2	2715	2	RFC1	4	39322915	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12621	39322915	151831361	5017	12729											
KLB	152831	broad.mit.edu	37	chr4	39436299	39436299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacagaagacaccacggCcatctacatgatgaagaatt	8	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39436299C>T	ENST00000257408.4	+	2	1392	c.1295C>T	c.(1294-1296)gCc>gTc	p.A432V		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	432	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GACACCACGGCCATCTACATG	0.398													False	0	False	4:39436299	0	T	39436299	C	T	39436299	3	4	88	1	0	0	0	0	1	0	0	0	8382	739	26	2	1301	2	KLB	4	39436299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113384	39436299	151717977	5018	12730											
KLB	152831	broad.mit.edu	37	chr4	39448080	39448080	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgacccgctcaatgcacagaTtttgtaaacatcaaaaaaca	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39448080T>G	ENST00000257408.4	+	4	1831	c.1734T>G	c.(1732-1734)gaT>gaG	p.D578E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	578	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AATGCACAGATTTTGTAAACA	0.512													False	0	True	4:39448080	0	G	39448080	T	G	39448080	3	3	88	1	0	0	0	0	1	0	0	0	8382	1490	52	4	1748	4	KLB	4	39448080	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11781	39448080	151706196	5019	12731											
UGDH	7358	broad.mit.edu	37	chr4	39523021	39523021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcattgattcttgattcatTgacatcaacaaccgttaccc	5	12	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39523021T>C	ENST00000316423.6	-	2	454	c.112A>G	c.(112-114)Aat>Gat	p.N38D	UGDH_ENST00000515398.1_Intron|UGDH_ENST00000507089.1_Intron|UGDH_ENST00000501493.2_Missense_Mutation_p.N38D|UGDH_ENST00000506179.1_Missense_Mutation_p.N38D	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	38					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	CTTGATTCATTGACATCAACA	0.378													False	0	False	4:39523021	0	C	39523021	T	C	39523021	3	2	88	1	0	0	0	0	1	0	0	0	17024	1812	63	4	1416	4	UGDH	4	39523021	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	74941	39523021	151631255	5020	12732											
PDS5A	23244	broad.mit.edu	37	chr4	39839590	39839590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctcctgacccactgcaGctctcttccttcccttgtta	6	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39839590G>A	ENST00000303538.8	-	32	4435	c.3896C>T	c.(3895-3897)gCt>gTt	p.A1299V		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1299					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACCCACTGCAGCTCTCTTCCT	0.483													False	0	True	4:39839590	0	A	39839590	G	A	39839590	3	1	88	1	0	0	0	0	1	0	0	0	11759	971	34	2	125	2	PDS5A	4	39839590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	316569	39839590	151314686	5021	12733											
N4BP2	55728	broad.mit.edu	37	chr4	40103869	40103869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatggattcatttttggAcatgcagctaactgaagacc	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40103869A>G	ENST00000261435.6	+	4	820	c.404A>G	c.(403-405)gAc>gGc	p.D135G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	135						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCATTTTTGGACATGCAGCTA	0.373													False	0	False	4:40103869	0	G	40103869	A	G	40103869	3	3	88	1	0	0	0	0	1	0	0	0	10177	275	10	4	410	4	N4BP2	4	40103869	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	264279	40103869	151050407	5022	12734											
N4BP2	55728	broad.mit.edu	37	chr4	40104536	40104536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgctgttgcctcctccGccacctccaccgatgtggaa	8	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40104536G>A	ENST00000261435.6	+	4	1487	c.1071G>A	c.(1069-1071)ccG>ccA	p.P357P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	357	Pro-rich.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGCCTCCTCCGCCACCTCCAC	0.512													False	0	False	4:40104536	0	A	40104536	G	A	40104536	2	1	88	1	0	0	0	0	0	0	0	1	10177	1074	38	1		1	N4BP2	4	40104536	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	667	40104536	151049740	5023	12735											
N4BP2	55728	broad.mit.edu	37	chr4	40122325	40122325	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcagagccactcaataGctataaatatgatgcttata	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40122325G>T	ENST00000261435.6	+	9	3010	c.2594G>T	c.(2593-2595)aGc>aTc	p.S865I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	865						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CCACTCAATAGCTATAAATAT	0.398													False	0	False	4:40122325	0	T	40122325	G	T	40122325	3	4	88	1	0	0	0	0	1	0	0	0	10177	971	34	3	2620	3	N4BP2	4	40122325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17789	40122325	151031951	5024	12736											
N4BP2	55728	broad.mit.edu	37	chr4	40122738	40122738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatgtcaagagcaaatgCctaagagagaccctggaaaa	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40122738C>T	ENST00000261435.6	+	9	3423	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1003						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGAGCAAATGCCTAAGAGAGA	0.408													False	0	False	4:40122738	0	T	40122738	C	T	40122738	3	4	88	1	0	0	0	0	1	0	0	0	10177	739	26	2	3033	2	N4BP2	4	40122738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	413	40122738	151031538	5025	12737											
N4BP2	55728	broad.mit.edu	37	chr4	40138628	40138628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggggaccctgtaaaaacaGttgtagcccaagagtttgtt	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40138628G>A	ENST00000261435.6	+	14	5127	c.4711G>A	c.(4711-4713)Gtt>Att	p.V1571I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1571						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGTAAAAACAGTTGTAGCCCA	0.338													False	0	False	4:40138628	0	A	40138628	G	A	40138628	3	1	88	1	0	0	0	0	1	0	0	0	10177	1029	36	2	4757	2	N4BP2	4	40138628	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15890	40138628	151015648	5026	12738											
N4BP2	55728	broad.mit.edu	37	chr4	40154517	40154517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagtacctcataagccataGcttcaggtgagtgtagattt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40154517G>T	ENST00000261435.6	+	17	5677	c.5261G>T	c.(5260-5262)aGc>aTc	p.S1754I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1754	Smr.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATAAGCCATAGCTTCAGGTGA	0.408													False	0	False	4:40154517	0	T	40154517	G	T	40154517	3	4	88	1	0	0	0	0	1	0	0	0	10177	971	34	3	5319	3	N4BP2	4	40154517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15889	40154517	150999759	5027	12739											
RHOH	399	broad.mit.edu	37	chr4	40245060	40245060	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactctgctgtggggaaaacCtctctgttggtgcgcttcac	12	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245060C>A	ENST00000381799.5	+	3	778	c.54C>A	c.(52-54)acC>acA	p.T18T	RHOH_ENST00000505618.1_Silent_p.T18T	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H						negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGGGGAAAACCTCTCTGTTGG	0.562													False	0	True	4:40245060	0	A	40245060	C	A	40245060	2	1	88	1	0	0	0	0	0	0	0	1	13419	668	24	3		3	RHOH	4	40245060	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90543	40245060	150909216	5028	12740											
RHOH	399	broad.mit.edu	37	chr4	40245403	40245403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagggcctcctgcgtcaatGccatggaagggaagaaactg	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245403G>T	ENST00000381799.5	+	3	1121	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	RHOH_ENST00000505618.1_Missense_Mutation_p.A133S	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H						negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTGCGTCAATGCCATGGAAGG	0.602													False	0	False	4:40245403	0	T	40245403	G	T	40245403	3	4	88	1	0	0	0	0	1	0	0	0	13419	1319	46	3	399	3	RHOH	4	40245403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343	40245403	150908873	5029	12741											
CHRNA9	55584	broad.mit.edu	37	chr4	40351187	40351187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaatgtgatctcctatggCtgctgctctgagccttaccc	9	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40351187C>T	ENST00000310169.2	+	4	793	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	218					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TCTCCTATGGCTGCTGCTCTG	0.512													False	0	True	4:40351187	0	T	40351187	C	T	40351187	2	4	88	1	0	0	0	0	0	0	0	1	3412	784	28	2		2	CHRNA9	4	40351187	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105784	40351187	150803089	5030	12742											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	88	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-IB-7651-01A-11D-2154-08	83518	40434705	150719571	5031	12743											
RBM47	54502	broad.mit.edu	37	chr4	40440179	40440179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacgtagaggatcttcacGgtctccatcacgtcctcgtc	9	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440179G>A	ENST00000319592.4	-	4	1441	c.732C>T	c.(730-732)acC>acT	p.T244T	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.T244T|RBM47_ENST00000514014.1_Silent_p.T206T|RBM47_ENST00000381793.2_Silent_p.T244T|RBM47_ENST00000295971.7_Silent_p.T244T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	244						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGATCTTCACGGTCTCCATCA	0.627													False	0	False	4:40440179	0	A	40440179	G	A	40440179	2	1	88	1	0	0	0	0	0	0	0	1	13220	1103	39	1		1	RBM47	4	40440179	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5474	40440179	150714097	5032	12744											
RBM47	54502	broad.mit.edu	37	chr4	40440380	40440380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacgatcacgtccagcacGccctcggtgaccttggcaat	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440380G>A	ENST00000319592.4	-	4	1240	c.531C>T	c.(529-531)ggC>ggT	p.G177G	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.G177G|RBM47_ENST00000514014.1_Silent_p.G139G|RBM47_ENST00000381793.2_Silent_p.G177G|RBM47_ENST00000295971.7_Silent_p.G177G			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	177	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGTCCAGCACGCCCTCGGTGA	0.632													False	0	True	4:40440380	0	A	40440380	G	A	40440380	2	1	88	1	0	0	0	0	0	0	0	1	13220	1074	38	1		1	RBM47	4	40440380	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201	40440380	150713896	5033	12745											
RBM47	54502	broad.mit.edu	37	chr4	40440520	40440520	+	Missense_Mutation	SNP	G	G	T													gcggatctcgtagttgttgaGctcacgcactgcgcgcttgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440520G>T	ENST00000319592.4	-	4	1100	c.391C>A	c.(391-393)Ctc>Atc	p.L131I	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.L131I|RBM47_ENST00000514014.1_Missense_Mutation_p.L93I|RBM47_ENST00000381793.2_Missense_Mutation_p.L131I|RBM47_ENST00000295971.7_Missense_Mutation_p.L131I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	131	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TAGTTGTTGAGCTCACGCACT	0.627													False	0	False	4:40440520	0	T	40440520	G	T	40440520	3	4	88	1	0	0	0	0	1	0	0	0	13220	971	34	3	1406	3	RBM47	4	40440520	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140	40440520	150713756	5034	12746	169	2									
RBM47	54502	broad.mit.edu	37	chr4	40440526	40440526	+	Missense_Mutation	SNP	G	G	A													ctcgtagttgttgagctcacGcactgcgcgcttggcctcgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440526G>A	ENST00000319592.4	-	4	1094	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.R129C|RBM47_ENST00000514014.1_Missense_Mutation_p.R91C|RBM47_ENST00000381793.2_Missense_Mutation_p.R129C|RBM47_ENST00000295971.7_Missense_Mutation_p.R129C			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	129	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTGAGCTCACGCACTGCGCGC	0.627													False	0	False	4:40440526	0	A	40440526	G	A	40440526	3	1	88	1	0	0	0	0	1	0	0	0	13220	1087	38	1	1412	1	RBM47	4	40440526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	40440526	150713750	5035	12747	169	2									
NSUN7	79730	broad.mit.edu	37	chr4	40776811	40776811	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagtttataataatttgaaGagaagaggctataataaagt	9	1	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40776811G>T	ENST00000381782.2	+	6	1164	c.669G>T	c.(667-669)aaG>aaT	p.K223N	NSUN7_ENST00000316607.5_Missense_Mutation_p.K223N|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATAATTTGAAGAGAAGAGGCT	0.289													False	0	True	4:40776811	0	T	40776811	G	T	40776811	3	4	88	1	0	0	0	0	1	0	0	0	10751	933	33	3	687	3	NSUN7	4	40776811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	336285	40776811	150377465	5036	12748											
NSUN7	79730	broad.mit.edu	37	chr4	40776916	40776916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttccatctcatcttaaAaatgatcttataaatataga	2	6	3	2	rs145033684		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40776916A>G	ENST00000381782.2	+	6	1269	c.774A>G	c.(772-774)aaA>aaG	p.K258K	NSUN7_ENST00000316607.5_Silent_p.K258K|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTCATCTTAAAAATGATCTTA	0.284													False	0	True	4:40776916	0	G	40776916	A	G	40776916	2	3	88	1	0	0	0	0	0	0	0	1	10751	11	1	4		4	NSUN7	4	40776916	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105	40776916	150377360	5037	12749											
APBB2	323	broad.mit.edu	37	chr4	40832536	40832536	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttgctggtgtgtcacatcGaaatacatgacatttcaaaa	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40832536G>A	ENST00000295974.8	-	13	2214	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	APBB2_ENST00000506352.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000502841.1_5'UTR|APBB2_ENST00000504305.1_5'UTR|APBB2_ENST00000513140.1_Nonsense_Mutation_p.R508*|APBB2_ENST00000508593.1_Nonsense_Mutation_p.R530*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	529	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTGTCACATCGAAATACATGA	0.433													False	0	True	4:40832536	0	A	40832536	G	A	40832536	4	1	88	1	0	0	0	0	0	1	0	0	763	1066	37	1	715	1	APBB2	4	40832536	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55620	40832536	150321740	5038	12750											
PHOX2B	8929	broad.mit.edu	37	chr4	41749444	41749444	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggggtagtgagtctccgcGaagaccctttccagctcttt	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:41749444G>A	ENST00000226382.2	-	2	710	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	117					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GAGTCTCCGCGAAGACCCTTT	0.622			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				False	0	False	4:41749444	0	A	41749444	G	A	41749444	2	1	88	1	0	0	0	0	0	0	0	1	11928	1049	37	1		1	PHOX2B	4	41749444	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	916908	41749444	149404832	5039	12751											
SHISA3	152573	broad.mit.edu	37	chr4	42403028	42403028	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtctgtttttgccttttaGagcctgtctacgtccccttt	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42403028G>T	ENST00000319234.4	+	2	495		c.e2-1			NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3						multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TTGCCTTTTAGAGCCTGTCTA	0.488													False	0	False	4:42403028	0	T	42403028	G	T	42403028	5	4	88	1	0	0	0	0	0	0	1	0	14362	956	33	3	283	3	SHISA3	4	42403028	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	653584	42403028	148751248	5040	12752											
SHISA3	152573	broad.mit.edu	37	chr4	42403101	42403101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctgggctctgtagtggCtatttattgttgcacctgtt	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42403101C>T	ENST00000319234.4	+	2	568	c.350C>T	c.(349-351)gCt>gTt	p.A117V		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	117					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TCTGTAGTGGCTATTTATTGT	0.512													False	0	True	4:42403101	0	T	42403101	C	T	42403101	3	4	88	1	0	0	0	0	1	0	0	0	14362	797	28	2	356	2	SHISA3	4	42403101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	42403101	148751175	5041	12753											
ATP8A1	10396	broad.mit.edu	37	chr4	42416721	42416721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacgttcttgagcagttgcGccctctcggtcaggctgcag	13	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42416721G>A	ENST00000381668.5	-	36	3551	c.3320C>T	c.(3319-3321)gCg>gTg	p.A1107V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A1092V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1107					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.A1107V(1)|p.A1092V(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAGCAGTTGCGCCCTCTCGGT	0.473													False	0	True	4:42416721	0	A	42416721	G	A	42416721	3	1	88	1	0	0	0	0	1	0	0	0	1196	1087	38	1	182	1	ATP8A1	4	42416721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13620	42416721	148737555	5042	12754											
ATP8A1	10396	broad.mit.edu	37	chr4	42577717	42577717	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatagtgcatgtcaagatcCtttaataaaattaagtaaat	5	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42577717C>A	ENST00000381668.5	-	13	1360		c.e13-1		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTCAAGATCCTTTAATAAAA	0.338													False	0	True	4:42577717	0	A	42577717	C	A	42577717	5	1	88	1	0	0	0	0	0	0	1	0	1196	695	24	3	2466	3	ATP8A1	4	42577717	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160996	42577717	148576559	5043	12755											
ATP8A1	10396	broad.mit.edu	37	chr4	42581869	42581869	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcttttccagaatgccttcGattccaaatggctgagccca	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42581869G>A	ENST00000381668.5	-	11	1192	c.961C>T	c.(961-963)Cga>Tga	p.R321*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.R321*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	321					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAATGCCTTCGATTCCAAATG	0.343													False	0	False	4:42581869	0	A	42581869	G	A	42581869	4	1	88	1	0	0	0	0	0	1	0	0	1196	1066	37	1	2641	1	ATP8A1	4	42581869	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4152	42581869	148572407	5044	12756											
ATP8A1	10396	broad.mit.edu	37	chr4	42626570	42626570	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacaatatcttctattatctCtttgatagctgccacagcta	4	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42626570C>A	ENST00000381668.5	-	4	577	c.346G>T	c.(346-348)Gag>Tag	p.E116*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.E116*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	116					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCTATTATCTCTTTGATAGCT	0.264													False	0	True	4:42626570	0	A	42626570	C	A	42626570	4	1	88	1	0	0	0	0	0	1	0	0	1196	922	32	3	3362	3	ATP8A1	4	42626570	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44701	42626570	148527706	5045	12757											
GRXCR1	389207	broad.mit.edu	37	chr4	42895651	42895651	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctctatttaacaattTgaccaaagtattacaggtaa	6	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42895651T>C	ENST00000399770.2	+	1	368	c.368T>C	c.(367-369)tTg>tCg	p.L123S		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	123					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTTAACAATTTGACCAAAGTA	0.418													False	0	True	4:42895651	0	C	42895651	T	C	42895651	3	2	88	1	0	0	0	0	1	0	0	0	6859	1821	63	4	370	4	GRXCR1	4	42895651	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	269081	42895651	148258625	5046	12758											
KCTD8	386617	broad.mit.edu	37	chr4	44449580	44449580	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccggggctgcgaacttacGgaagaaaatgtactcggtgt	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44449580G>A	ENST00000360029.3	-	1	1244	c.961C>T	c.(961-963)Cga>Tga	p.R321*		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	321						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GCGAACTTACGGAAGAAAATG	0.662										HNSCC(17;0.042)			False	0	False	4:44449580	0	A	44449580	G	A	44449580	5	1	88	1	0	0	0	0	0	0	1	0	8165	1130	39	1	468	1	KCTD8	4	44449580	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1553929	44449580	146704696	5047	12759											
GUF1	60558	broad.mit.edu	37	chr4	44691943	44691943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctgttattttaacaaCccctactgttccatataaag	4	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44691943C>T	ENST00000281543.5	+	11	1480	c.1286C>T	c.(1285-1287)aCc>aTc	p.T429I	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	429					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATTTTAACAACCCCTACTGTT	0.378													False	0	True	4:44691943	0	T	44691943	C	T	44691943	3	4	88	1	0	0	0	0	1	0	0	0	6946	507	18	2	1328	2	GUF1	4	44691943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	242363	44691943	146462333	5048	12760											
GABRG1	2565	broad.mit.edu	37	chr4	46060235	46060235	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatattacatgtcataccCaacgatgttcttgcaggcac	6	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46060235C>T	ENST00000295452.4	-	7	1082	c.915G>A	c.(913-915)ttG>ttA	p.L305L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	305					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATGTCATACCCAACGATGTTC	0.318													False	0	True	4:46060235	0	T	46060235	C	T	46060235	5	4	88	1	0	0	0	0	0	0	1	0	6213	608	21	2	494	2	GABRG1	4	46060235	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1368292	46060235	145094041	5049	12761											
GABRA2	2555	broad.mit.edu	37	chr4	46252622	46252622	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acggaagccttttcttttttCtattgaaaaatacaaaaatt	4	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46252622C>A	ENST00000510861.1	-	10	1233		c.e10-1		GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site|GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000381620.4_Splice_Site			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2						gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTCTTTTTTCTATTGAAAAA	0.368													False	0	True	4:46252622	0	A	46252622	C	A	46252622	5	1	88	1	0	0	0	0	0	0	1	0	6203	927	32	3	300	3	GABRA2	4	46252622	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192387	46252622	144901654	5050	12762											
GABRA4	2557	broad.mit.edu	37	chr4	46930511	46930511	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatccaactgaagcctttcGaggcatatatccagttcgga	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930511G>A	ENST00000264318.3	-	9	2378	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	466					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAGCCTTTCGAGGCATATAT	0.468													False	0	False	4:46930511	0	A	46930511	G	A	46930511	4	1	88	1	0	0	0	0	0	1	0	0	6205	1066	37	1	272	1	GABRA4	4	46930511	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	677889	46930511	144223765	5051	12763											
GABRA4	2557	broad.mit.edu	37	chr4	46930552	46930552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagtaggagaagcagatGgaagtgctcttgctgcagat	14	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930552G>A	ENST00000264318.3	-	9	2337	c.1355C>T	c.(1354-1356)cCa>cTa	p.P452L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	452					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGAAGCAGATGGAAGTGCTCT	0.478													False	0	False	4:46930552	0	A	46930552	G	A	46930552	3	1	88	1	0	0	0	0	1	0	0	0	6205	1348	47	2	313	2	GABRA4	4	46930552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41	46930552	144223724	5052	12764											
GABRA4	2557	broad.mit.edu	37	chr4	46930768	46930768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttcaaattggcatttGtattctgaaaaggtatatga	8	4	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930768G>A	ENST00000264318.3	-	9	2121	c.1139C>T	c.(1138-1140)aCa>aTa	p.T380I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	380					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATTGGCATTTGTATTCTGAAA	0.308													False	0	True	4:46930768	0	A	46930768	G	A	46930768	3	1	88	1	0	0	0	0	1	0	0	0	6205	1377	48	2	529	2	GABRA4	4	46930768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216	46930768	144223508	5053	12765											
GABRA4	2557	broad.mit.edu	37	chr4	46976326	46976326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaagctggaagactccttcGgaacttcaactgatttctca	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46976326G>A	ENST00000264318.3	-	6	1626	c.644C>T	c.(643-645)cCg>cTg	p.P215L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	215					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P215L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGACTCCTTCGGAACTTCAAC	0.393													False	0	False	4:46976326	0	A	46976326	G	A	46976326	3	1	88	1	0	0	0	0	1	0	0	0	6205	1116	39	1	1036	1	GABRA4	4	46976326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45558	46976326	144177950	5054	12766											
GABRA4	2557	broad.mit.edu	37	chr4	46979547	46979547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcaggggtccacactttcGttaccatcatattgttcaat	6	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46979547G>A	ENST00000264318.3	-	4	1356	c.374C>T	c.(373-375)aCg>aTg	p.T125M		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	125					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCACACTTTCGTTACCATCAT	0.358													False	0	False	4:46979547	0	A	46979547	G	A	46979547	3	1	88	1	0	0	0	0	1	0	0	0	6205	1145	40	1	1314	1	GABRA4	4	46979547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3221	46979547	144174729	5055	12767											
GABRA4	2557	broad.mit.edu	37	chr4	46995361	46995361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagagaactcaccaaacCgccaggcacaggaagcgcag	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46995361C>T	ENST00000264318.3	-	1	1063	c.81G>A	c.(79-81)gcG>gcA	p.A27A	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	27					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCACCAAACCGCCAGGCACA	0.607													False	0	False	4:46995361	0	T	46995361	C	T	46995361	2	4	88	1	0	0	0	0	0	0	0	1	6205	639	23	1		1	GABRA4	4	46995361	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15814	46995361	144158915	5056	12768											
GABRB1	2560	broad.mit.edu	37	chr4	47163380	47163380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgaccaactctgggtaCcagacacctactttctgaat	7	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47163380C>T	ENST00000295454.3	+	4	647	c.355C>T	c.(355-357)Cca>Tca	p.P119S	GABRB1_ENST00000538619.1_Missense_Mutation_p.P49S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	119					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACTCTGGGTACCAGACACCTA	0.438													False	0	False	4:47163380	0	T	47163380	C	T	47163380	3	4	88	1	0	0	0	0	1	0	0	0	6208	507	18	2	369	2	GABRB1	4	47163380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168019	47163380	143990896	5057	12769											
GABRB1	2560	broad.mit.edu	37	chr4	47427969	47427969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattccatagacaagtggtcCcgaatgtttttccccatcac	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47427969C>T	ENST00000295454.3	+	9	1651	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	GABRB1_ENST00000538619.1_Silent_p.S383S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	453					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACAAGTGGTCCCGAATGTTTT	0.483													False	0	True	4:47427969	0	T	47427969	C	T	47427969	2	4	88	1	0	0	0	0	0	0	0	1	6208	610	22	2		2	GABRB1	4	47427969	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264589	47427969	143726307	5058	12770											
COMMD8	54951	broad.mit.edu	37	chr4	47458637	47458637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagctgtgcagaggaaataGcaactatttctcttgacaga	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47458637G>T	ENST00000381571.4	-	3	399	c.332C>A	c.(331-333)gCt>gAt	p.A111D		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	111							protein binding			large_intestine(2)|lung(5)|prostate(1)	8						AGAGGAAATAGCAACTATTTC	0.333													False	0	False	4:47458637	0	T	47458637	G	T	47458637	3	4	88	1	0	0	0	0	1	0	0	0	3745	971	34	3	231	3	COMMD8	4	47458637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30668	47458637	143695639	5059	12771											
ATP10D	57205	broad.mit.edu	37	chr4	47559715	47559715	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actgggggggttgcccattaAgtctttggaagagattaaaa	13	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47559715A>C	ENST00000273859.3	+	12	2128	c.1859A>C	c.(1858-1860)aAg>aCg	p.K620T	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	620					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGCCCATTAAGTCTTTGGAA	0.423													False	0	False	4:47559715	0	C	47559715	A	C	47559715	3	2	88	1	0	0	0	0	1	0	0	0	1122	72	3	4	1901	4	ATP10D	4	47559715	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	101078	47559715	143594561	5060	12772											
ATP10D	57205	broad.mit.edu	37	chr4	47560058	47560058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacgaagcggccttagtGtatgccgccagggcttacca	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47560058G>A	ENST00000273859.3	+	12	2471	c.2202G>A	c.(2200-2202)gtG>gtA	p.V734V	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	734					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CGGCCTTAGTGTATGCCGCCA	0.557													False	0	False	4:47560058	0	A	47560058	G	A	47560058	2	1	88	1	0	0	0	0	0	0	0	1	1122	1364	48	2		2	ATP10D	4	47560058	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343	47560058	143594218	5061	12773											
ATP10D	57205	broad.mit.edu	37	chr4	47563037	47563037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaccagcattgacaacagGgaagaattactacttgaatc	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47563037G>A	ENST00000273859.3	+	14	2882	c.2613G>A	c.(2611-2613)agG>agA	p.R871R		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	871					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGACAACAGGGAAGAATTAC	0.383													False	0	True	4:47563037	0	A	47563037	G	A	47563037	2	1	88	1	0	0	0	0	0	0	0	1	1122	1223	43	2		2	ATP10D	4	47563037	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2979	47563037	143591239	5062	12774											
ATP10D	57205	broad.mit.edu	37	chr4	47589067	47589067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctggtcatcattggtaGcatcttgtcttattttttat	7	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47589067G>A	ENST00000273859.3	+	22	4054	c.3785G>A	c.(3784-3786)aGc>aAc	p.S1262N		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1262					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATCATTGGTAGCATCTTGTCT	0.433													False	0	False	4:47589067	0	A	47589067	G	A	47589067	3	1	88	1	0	0	0	0	1	0	0	0	1122	971	34	2	3867	2	ATP10D	4	47589067	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26030	47589067	143565209	5063	12775											
CORIN	10699	broad.mit.edu	37	chr4	47645169	47645169	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aacaagtagctcaccacagtCccattcatctgaactgtctg	6	13	4	1	rs143147998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47645169C>A	ENST00000273857.4	-	15	2061	c.2062G>T	c.(2062-2064)Gac>Tac	p.D688Y	CORIN_ENST00000502252.1_Missense_Mutation_p.D621Y|CORIN_ENST00000508498.1_Missense_Mutation_p.D549Y|CORIN_ENST00000505909.1_Missense_Mutation_p.D651Y|CORIN_ENST00000504584.1_Missense_Mutation_p.D651Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	688	LDL-receptor class A 7.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCACCACAGTCCCATTCATCT	0.478													False	0	True	4:47645169	0	A	47645169	C	A	47645169	3	1	88	1	0	0	0	0	1	0	0	0	3775	855	30	3	1098	3	CORIN	4	47645169	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56102	47645169	143509107	5064	12776											
CORIN	10699	broad.mit.edu	37	chr4	47788906	47788906	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagtgaccaaaggttcaCtcccatttgatttaaaatag	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47788906C>T	ENST00000508498.1	-	0	76				CORIN_ENST00000502252.1_Intron|CORIN_ENST00000273857.4_Missense_Mutation_p.S82N|CORIN_ENST00000505909.1_Missense_Mutation_p.S82N|CORIN_ENST00000504584.1_Missense_Mutation_p.S82N			Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase						peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAAAGGTTCACTCCCATTTGA	0.348													False	0	False	4:47788906	0	T	47788906	C	T	47788906	1	4	88	1	0	0	0	0	0	0	0	0	3775	565	20	2		2	CORIN	4	47788906	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143737	47788906	143365370	5065	12777											
TEC	7006	broad.mit.edu	37	chr4	48147173	48147173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacacatgctcagcagtaCgtctctactgaaatgacctt	7	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48147173C>T	ENST00000381501.3	-	14	1550	c.1393G>A	c.(1393-1395)Gta>Ata	p.V465I	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	465	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTCAGCAGTACGTCTCTACTG	0.478													False	0	False	4:48147173	0	T	48147173	C	T	48147173	3	4	88	1	0	0	0	0	1	0	0	0	15824	536	19	1	522	1	TEC	4	48147173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	358267	48147173	143007103	5066	12778											
TEC	7006	broad.mit.edu	37	chr4	48151572	48151572	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggttttcacagctcacttAcctgctgcattgtgcttatg	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48151572A>G	ENST00000381501.3	-	11	1164		c.e11+1		TEC_ENST00000511471.2_Splice_Site	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase						intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CAGCTCACTTACCTGCTGCAT	0.333													False	0	False	4:48151572	0	G	48151572	A	G	48151572	5	3	88	1	0	0	0	0	0	0	1	0	15824	405	14	4	919	4	TEC	4	48151572	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4399	48151572	143002704	5067	12779											
SLC10A4	201780	broad.mit.edu	37	chr4	48486146	48486146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatcttatgtccctgctgGttgacggcgacatgaacctc	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48486146G>A	ENST00000273861.4	+	1	787	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	190						integral to membrane	bile acid:sodium symporter activity	p.V190L(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTCCCTGCTGGTTGACGGCGA	0.617													False	0	False	4:48486146	0	A	48486146	G	A	48486146	3	1	88	1	0	0	0	0	1	0	0	0	14457	1261	44	2	570	2	SLC10A4	4	48486146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	334574	48486146	142668130	5068	12780											
ZAR1	326340	broad.mit.edu	37	chr4	48496233	48496233	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaacgcctgtcctgtgacaGcactttcagcttcaaataca	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48496233G>T	ENST00000327939.4	+	4	1287	c.1247G>T	c.(1246-1248)aGc>aTc	p.S416I		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	416					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity			endometrium(1)|large_intestine(4)	5						TCCTGTGACAGCACTTTCAGC	0.512													False	0	False	4:48496233	0	T	48496233	G	T	48496233	3	4	88	1	0	0	0	0	1	0	0	0	17599	971	34	3	1261	3	ZAR1	4	48496233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10087	48496233	142658043	5069	12781											
FRYL	285527	broad.mit.edu	37	chr4	48501642	48501642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaaatatatatgtaacaGtgtctgtacagggtcatctt	9	5	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48501642G>A	ENST00000537810.1	-	64	9443	c.8839C>T	c.(8839-8841)Ctg>Ttg	p.L2947L	FRYL_ENST00000503238.1_Silent_p.L2947L|FRYL_ENST00000264319.7_Silent_p.L337L|FRYL_ENST00000507873.2_Silent_p.L337L|FRYL_ENST00000358350.4_Silent_p.L2947L			O94915	FRYL_HUMAN	FRY-like	2947					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATATGTAACAGTGTCTGTACA	0.423													False	0	False	4:48501642	0	A	48501642	G	A	48501642	2	1	88	1	0	0	0	0	0	0	0	1	6106	1020	36	2		2	FRYL	4	48501642	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5409	48501642	142652634	5070	12782											
FRYL	285527	broad.mit.edu	37	chr4	48502115	48502115	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttcaattaaagaatgAatggcagtttctatagtagt	8	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48502115A>C	ENST00000537810.1	-	63	9319	c.8715T>G	c.(8713-8715)atT>atG	p.I2905M	FRYL_ENST00000503238.1_Missense_Mutation_p.I2905M|FRYL_ENST00000264319.7_Missense_Mutation_p.I295M|FRYL_ENST00000507873.2_Missense_Mutation_p.I295M|FRYL_ENST00000358350.4_Missense_Mutation_p.I2905M			O94915	FRYL_HUMAN	FRY-like	2905					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTAAAGAATGAATGGCAGTTT	0.373													False	0	True	4:48502115	0	C	48502115	A	C	48502115	3	2	88	1	0	0	0	0	1	0	0	0	6106	242	9	4	334	4	FRYL	4	48502115	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	473	48502115	142652161	5071	12783											
FRYL	285527	broad.mit.edu	37	chr4	48503735	48503735	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaatttgtataatcttcGgcagagctccaattcctaga	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48503735G>A	ENST00000537810.1	-	62	9101	c.8497C>T	c.(8497-8499)Cga>Tga	p.R2833*	FRYL_ENST00000503238.1_Nonsense_Mutation_p.R2833*|FRYL_ENST00000264319.7_Nonsense_Mutation_p.R223*|FRYL_ENST00000507873.2_Nonsense_Mutation_p.R223*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.R2833*			O94915	FRYL_HUMAN	FRY-like	2833					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TATAATCTTCGGCAGAGCTCC	0.303													False	0	False	4:48503735	0	A	48503735	G	A	48503735	4	1	88	1	0	0	0	0	0	1	0	0	6106	1124	39	1	556	1	FRYL	4	48503735	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1620	48503735	142650541	5072	12784											
FRYL	285527	broad.mit.edu	37	chr4	48512134	48512134	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttcttgcaactccaaaAcaccaaacttgagtgtttcc	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48512134A>T	ENST00000537810.1	-	59	8940	c.8336T>A	c.(8335-8337)gTt>gAt	p.V2779D	FRYL_ENST00000503238.1_Missense_Mutation_p.V2779D|FRYL_ENST00000264319.7_Missense_Mutation_p.V175D|FRYL_ENST00000507873.2_Missense_Mutation_p.V175D|FRYL_ENST00000358350.4_Missense_Mutation_p.V2779D			O94915	FRYL_HUMAN	FRY-like	2779					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAACTCCAAAACACCAAACTT	0.418													False	0	True	4:48512134	0	T	48512134	A	T	48512134	3	4	88	1	0	0	0	0	1	0	0	0	6106	43	2	5	729	5	FRYL	4	48512134	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8399	48512134	142642142	5073	12785											
FRYL	285527	broad.mit.edu	37	chr4	48578084	48578084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgctatctggggtagacGccagcgtctcaggaggagaa	15	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48578084G>A	ENST00000537810.1	-	24	3288	c.2684C>T	c.(2683-2685)gCg>gTg	p.A895V	FRYL_ENST00000503238.1_Missense_Mutation_p.A895V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.A895V|FRYL_ENST00000358350.4_Missense_Mutation_p.A895V			O94915	FRYL_HUMAN	FRY-like	895					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGGGGTAGACGCCAGCGTCTC	0.448													False	0	False	4:48578084	0	A	48578084	G	A	48578084	3	1	88	1	0	0	0	0	1	0	0	0	6106	1087	38	1	6521	1	FRYL	4	48578084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65950	48578084	142576192	5074	12786											
FRYL	285527	broad.mit.edu	37	chr4	48604058	48604058	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaaatgtgacaaacagttCtgtaggaaaatatgccagtt	8	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48604058C>A	ENST00000537810.1	-	13	1618	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	FRYL_ENST00000503238.1_Missense_Mutation_p.Q338H|FRYL_ENST00000506685.1_Missense_Mutation_p.Q44H|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.Q338H|FRYL_ENST00000358350.4_Missense_Mutation_p.Q338H			O94915	FRYL_HUMAN	FRY-like	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACAAACAGTTCTGTAGGAAAA	0.313													False	0	False	4:48604058	0	A	48604058	C	A	48604058	3	1	88	1	0	0	0	0	1	0	0	0	6106	912	32	3	8235	3	FRYL	4	48604058	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25974	48604058	142550218	5075	12787											
FRYL	285527	broad.mit.edu	37	chr4	48607807	48607807	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaccagcaagtgcatgtTttatatctttatctttcact	4	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48607807T>G	ENST00000537810.1	-	11	1389	c.785A>C	c.(784-786)aAa>aCa	p.K262T	FRYL_ENST00000503238.1_Missense_Mutation_p.K262T|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.K262T|FRYL_ENST00000358350.4_Missense_Mutation_p.K262T			O94915	FRYL_HUMAN	FRY-like	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAGTGCATGTTTTATATCTTT	0.308													False	0	True	4:48607807	0	G	48607807	T	G	48607807	3	3	88	1	0	0	0	0	1	0	0	0	6106	1841	64	4	8472	4	FRYL	4	48607807	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3749	48607807	142546469	5076	12788											
OCIAD1	54940	broad.mit.edu	37	chr4	48844691	48844691	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagtatgttgattactcaaGgattaattagtaaaggtaaa	8	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48844691G>T	ENST00000425583.2	+	4	453	c.178G>T	c.(178-180)Gga>Tga	p.G60*	OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.G33*|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000381473.3_Nonsense_Mutation_p.G60*|OCIAD1_ENST00000506801.1_Nonsense_Mutation_p.G6*	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	60	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GATTACTCAAGGATTAATTAG	0.284													False	0	False	4:48844691	0	T	48844691	G	T	48844691	4	4	88	1	0	0	0	0	0	1	0	0	10885	1001	35	3	207	3	OCIAD1	4	48844691	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236884	48844691	142309585	5077	12789											
OCIAD1	54940	broad.mit.edu	37	chr4	48850458	48850458	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatggttccatccctaaacTtatacgtaagtatgaacaac	5	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48850458T>G	ENST00000425583.2	+	5	511	c.236T>G	c.(235-237)cTt>cGt	p.L79R	OCIAD1_ENST00000513391.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000508293.1_Missense_Mutation_p.L79R|OCIAD1_ENST00000264312.7_Missense_Mutation_p.L79R|OCIAD1_ENST00000444354.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000396448.2_Missense_Mutation_p.L79R|OCIAD1_ENST00000509122.1_Missense_Mutation_p.L52R|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000381473.3_Missense_Mutation_p.L79R|OCIAD1_ENST00000506801.1_Missense_Mutation_p.L25R	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	79	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						ATCCCTAAACTTATACGTAAG	0.259													False	0	False	4:48850458	0	G	48850458	T	G	48850458	3	3	88	1	0	0	0	0	1	0	0	0	10885	1609	56	4	269	4	OCIAD1	4	48850458	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5767	48850458	142303818	5078	12790											
CWH43	80157	broad.mit.edu	37	chr4	48994109	48994109	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgatcgtattggcacaggTaatactgtaacttaggaatt	9	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48994109T>C	ENST00000226432.4	+	4	694		c.e4+2		CWH43_ENST00000513409.1_Splice_Site	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)						GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTGGCACAGGTAATACTGTAA	0.368													False	0	False	4:48994109	0	C	48994109	T	C	48994109	5	2	88	1	0	0	0	0	0	0	1	0	4098	1652	57	4	527	4	CWH43	4	48994109	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	143651	48994109	142160167	5079	12791											
CWH43	80157	broad.mit.edu	37	chr4	49000506	49000506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgctgtgcttggcaagtgGattgatgcttccatcttgtt	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:49000506G>A	ENST00000226432.4	+	6	926	c.743G>A	c.(742-744)gGa>gAa	p.G248E	CWH43_ENST00000513409.1_Missense_Mutation_p.G221E	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	248					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTGGCAAGTGGATTGATGCTT	0.413													False	0	False	4:49000506	0	A	49000506	G	A	49000506	3	1	88	1	0	0	0	0	1	0	0	0	4098	1174	41	2	765	2	CWH43	4	49000506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6397	49000506	142153770	5080	12792											
CWH43	80157	broad.mit.edu	37	chr4	49034600	49034600	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggattatggctttgtcaaGatacccaattgtgaaatctg	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:49034600G>A	ENST00000226432.4	+	12	1709	c.1526G>A	c.(1525-1527)aGa>aAa	p.R509K	CWH43_ENST00000513409.1_Missense_Mutation_p.R482K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	509					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTTTGTCAAGATACCCAATT	0.458													False	0	False	4:49034600	0	A	49034600	G	A	49034600	3	1	88	1	0	0	0	0	1	0	0	0	4098	942	33	2	1572	2	CWH43	4	49034600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34094	49034600	142119676	5081	12793											
DCUN1D4	23142	broad.mit.edu	37	chr4	52740484	52740484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctttaataaagtgatgCcaccaaggaaaaagagaaga	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52740484C>T	ENST00000334635.5	+	4	364	c.184C>T	c.(184-186)Cca>Tca	p.P62S	DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.P2S|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.P62S|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.P106S	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	62										endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TAAAGTGATGCCACCAAGGAA	0.393													False	0	False	4:52740484	0	T	52740484	C	T	52740484	3	4	88	1	0	0	0	0	1	0	0	0	4341	739	26	2	198	2	DCUN1D4	4	52740484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3705884	52740484	138413792	5082	12794											
DCUN1D4	23142	broad.mit.edu	37	chr4	52740552	52740552	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaaagtagacatgatagGtatgatgtagagacagtaga	12	2	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52740552G>A	ENST00000334635.5	+	4	431		c.e4+1		DCUN1D4_ENST00000513800.1_Splice_Site|DCUN1D4_ENST00000381437.4_Splice_Site|DCUN1D4_ENST00000381441.3_Splice_Site|DCUN1D4_ENST00000451288.2_Splice_Site	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4											endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GACATGATAGGTATGATGTAG	0.403													False	0	False	4:52740552	0	A	52740552	G	A	52740552	5	1	88	1	0	0	0	0	0	0	1	0	4341	1275	44	2	266	2	DCUN1D4	4	52740552	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68	52740552	138413724	5083	12795											
LRRC66	339977	broad.mit.edu	37	chr4	52861802	52861802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggtggcgtgtgggtgtggCtgtgtcacccagaaaggggt	19	7	1	1	rs141259484	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52861802C>A	ENST00000343457.3	-	4	1392	c.1386G>T	c.(1384-1386)caG>caT	p.Q462H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	462						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGGGTGTGGCTGTGTCACCC	0.577													False	0	False	4:52861802	0	A	52861802	C	A	52861802	3	1	88	1	0	0	0	0	1	0	0	0	9080	796	28	3	1260	3	LRRC66	4	52861802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121250	52861802	138292474	5084	12796											
LRRC66	339977	broad.mit.edu	37	chr4	52862271	52862271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgatgcagatgaatgggaGgaaggcgggtttccctggaa	17	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52862271G>A	ENST00000343457.3	-	4	923	c.917C>T	c.(916-918)cCt>cTt	p.P306L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	306						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATGAATGGGAGGAAGGCGGGT	0.537													False	0	False	4:52862271	0	A	52862271	G	A	52862271	3	1	88	1	0	0	0	0	1	0	0	0	9080	1000	35	2	1729	2	LRRC66	4	52862271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	469	52862271	138292005	5085	12797											
SGCB	6443	broad.mit.edu	37	chr4	52899737	52899737	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaaagttactgttgtgctCtttattgacactccttctct	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52899737C>A	ENST00000381431.5	-	2	325	c.103G>T	c.(103-105)Gag>Tag	p.E35*	SGCB_ENST00000535450.1_Intron	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	35					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CTGTTGTGCTCTTTATTGACA	0.408													False	0	True	4:52899737	0	A	52899737	C	A	52899737	4	1	88	1	0	0	0	0	0	1	0	0	14281	922	32	3	873	3	SGCB	4	52899737	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37466	52899737	138254539	5086	12798											
SPATA18	132671	broad.mit.edu	37	chr4	52945942	52945942	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccatgaatgtcaatcccaaGatttcattccctcctgtcgt	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52945942G>T	ENST00000295213.4	+	9	1586	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	404					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.K404N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAATCCCAAGATTTCATTCC	0.443													False	0	False	4:52945942	0	T	52945942	G	T	52945942	3	4	88	1	0	0	0	0	1	0	0	0	15085	933	33	3	1246	3	SPATA18	4	52945942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46205	52945942	138208334	5087	12799											
SPATA18	132671	broad.mit.edu	37	chr4	52945959	52945959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagatttcattccctcctgTcgttgacttttgccttctca	5	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52945959T>C	ENST00000295213.4	+	9	1603	c.1229T>C	c.(1228-1230)gTc>gCc	p.V410A	SPATA18_ENST00000419395.2_Missense_Mutation_p.V378A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	410					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTCCCTCCTGTCGTTGACTTT	0.443													False	0	False	4:52945959	0	C	52945959	T	C	52945959	3	2	88	1	0	0	0	0	1	0	0	0	15085	1667	58	4	1263	4	SPATA18	4	52945959	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17	52945959	138208317	5088	12800											
USP46	64854	broad.mit.edu	37	chr4	53468125	53468125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccagagggaagaccacaCggtaagacagcttggtgtat	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53468125C>T	ENST00000441222.3	-	7	1002	c.818G>A	c.(817-819)cGt>cAt	p.R273H	USP46_ENST00000451218.2_Missense_Mutation_p.R246H|USP46_ENST00000508499.1_Missense_Mutation_p.R266H	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46						behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			GAAGACCACACGGTAAGACAG	0.532													False	0	False	4:53468125	0	T	53468125	C	T	53468125	3	4	88	1	0	0	0	0	1	0	0	0	17161	536	19	1	294	1	USP46	4	53468125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	522166	53468125	137686151	5089	12801											
RASL11B	65997	broad.mit.edu	37	chr4	53731794	53731794	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaaaattataatgatgTctacagcgccttccacgtcc	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53731794T>C	ENST00000248706.3	+	4	787	c.569T>C	c.(568-570)gTc>gCc	p.V190A	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	190	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			TATAATGATGTCTACAGCGCC	0.502													False	0	False	4:53731794	0	C	53731794	T	C	53731794	3	2	88	1	0	0	0	0	1	0	0	0	13161	1667	58	4	583	4	RASL11B	4	53731794	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	263669	53731794	137422482	5090	12802											
RASL11B	65997	broad.mit.edu	37	chr4	53731934	53731934	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaggaggtttaagcaaGccctctctgccaaagtgagg	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53731934G>T	ENST00000248706.3	+	4	927	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	237	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			GTTTAAGCAAGCCCTCTCTGC	0.562													False	0	True	4:53731934	0	T	53731934	G	T	53731934	3	4	88	1	0	0	0	0	1	0	0	0	13161	971	34	3	723	3	RASL11B	4	53731934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140	53731934	137422342	5091	12803											
SCFD2	152579	broad.mit.edu	37	chr4	53786923	53786923	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatttccaggaacatatacaGacttaaactgtttcaggaga	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53786923G>A	ENST00000401642.3	-	6	1809	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	SCFD2_ENST00000388940.4_Missense_Mutation_p.S559F	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	559					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AACATATACAGACTTAAACTG	0.378													False	0	False	4:53786923	0	A	53786923	G	A	53786923	3	1	88	1	0	0	0	0	1	0	0	0	13970	942	33	2	394	2	SCFD2	4	53786923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54989	53786923	137367353	5092	12804											
SCFD2	152579	broad.mit.edu	37	chr4	54011686	54011686	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcgttggttctctgggTtacaggcttaatcatgggca	12	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54011686T>C	ENST00000401642.3	-	5	1508	c.1375A>G	c.(1375-1377)Acc>Gcc	p.T459A	SCFD2_ENST00000388940.4_Missense_Mutation_p.T459A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	459					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTTCTCTGGGTTACAGGCTTA	0.423													False	0	True	4:54011686	0	C	54011686	T	C	54011686	3	2	88	1	0	0	0	0	1	0	0	0	13970	1725	60	4	699	4	SCFD2	4	54011686	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	224763	54011686	137142590	5093	12805											
SCFD2	152579	broad.mit.edu	37	chr4	54231417	54231417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaaacactcctcccgtactCctaaatgttcacacagagaa	4	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54231417C>T	ENST00000401642.3	-	1	825	c.692G>A	c.(691-693)gGa>gAa	p.G231E	SCFD2_ENST00000388940.4_Missense_Mutation_p.G231E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	231					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTCCCGTACTCCTAAATGTTC	0.527													False	0	False	4:54231417	0	T	54231417	C	T	54231417	3	4	88	1	0	0	0	0	1	0	0	0	13970	855	30	2	1398	2	SCFD2	4	54231417	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219731	54231417	136922859	5094	12806											
SCFD2	152579	broad.mit.edu	37	chr4	54232059	54232059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgtttcactttggccagcAcctgctcccatccttgctgg	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54232059A>G	ENST00000401642.3	-	1	183	c.50T>C	c.(49-51)gTg>gCg	p.V17A	SCFD2_ENST00000388940.4_Missense_Mutation_p.V17A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	17					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTTGGCCAGCACCTGCTCCCA	0.622													False	0	False	4:54232059	0	G	54232059	A	G	54232059	3	3	88	1	0	0	0	0	1	0	0	0	13970	159	6	4	2040	4	SCFD2	4	54232059	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	642	54232059	136922217	5095	12807											
FIP1L1	81608	broad.mit.edu	37	chr4	54265951	54265951	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcccttccatctacaAaagctgagtttacttctcct	4	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54265951A>C	ENST00000507166.1	+	10	760	c.760A>C	c.(760-762)Aaa>Caa	p.K254Q	FIP1L1_ENST00000337488.6_Missense_Mutation_p.K254Q|FIP1L1_ENST00000358575.5_Missense_Mutation_p.K239Q|FIP1L1_ENST00000306932.6_Missense_Mutation_p.K216Q|FIP1L1_ENST00000507922.1_Missense_Mutation_p.K239Q			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	254	Necessary for stimulating PAPOLA activity.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCCATCTACAAAAGCTGAGTT	0.388			T	PDGFRA	idiopathic hypereosinophilic syndrome								False	0	True	4:54265951	0	C	54265951	A	C	54265951	3	2	88	1	0	0	0	0	1	0	0	0	5936	15	1	4	798	4	FIP1L1	4	54265951	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33892	54265951	136888325	5096	12808											
FIP1L1	81608	broad.mit.edu	37	chr4	54319276	54319276	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagagggagcgtgatcacaGtcctacaccaagtgttttca	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54319276G>T	ENST00000337488.6	+	16	1669	c.1475G>T	c.(1474-1476)aGt>aTt	p.S492I	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Missense_Mutation_p.S486I|FIP1L1_ENST00000306932.6_Missense_Mutation_p.S418I	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	492	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CGTGATCACAGTCCTACACCA	0.438			T	PDGFRA	idiopathic hypereosinophilic syndrome								False	0	False	4:54319276	0	T	54319276	G	T	54319276	3	4	88	1	0	0	0	0	1	0	0	0	5936	1029	36	3	1568	3	FIP1L1	4	54319276	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53325	54319276	136835000	5097	12809											
LNX1	84708	broad.mit.edu	37	chr4	54343147	54343147	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccacattcaacaaaatgtcAcctgatggccagagaagcag	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54343147A>G	ENST00000306888.2	-	8	1628	c.1377T>C	c.(1375-1377)ggT>ggC	p.G459G	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Splice_Site_p.G555G	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	555	PDZ 2.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACAAAATGTCACCTGATGGCC	0.483													False	0	False	4:54343147	0	G	54343147	A	G	54343147	5	3	88	1	0	0	0	0	0	0	1	0	8918	173	6	4	533	4	LNX1	4	54343147	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23871	54343147	136811129	5098	12810											
GSX2	170825	broad.mit.edu	37	chr4	54966712	54966712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctctctgcgtcacttcGcacctgcactcctctcgggg	9	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54966712G>A	ENST00000326902.2	+	1	515	c.201G>A	c.(199-201)tcG>tcA	p.S67S	FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Silent_p.S67S	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	67						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GCGTCACTTCGCACCTGCACT	0.751													False	0	False	4:54966712	0	A	54966712	G	A	54966712	2	1	88	1	0	0	0	0	0	0	0	1	6897	1074	38	1		1	GSX2	4	54966712	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	623565	54966712	136187564	5099	12811											
GSX2	170825	broad.mit.edu	37	chr4	54967769	54967769	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggctctgacgccagccagGtacccaatggcaagaggatg	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54967769G>T	ENST00000326902.2	+	2	909	c.595G>T	c.(595-597)Gta>Tta	p.V199L	FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_Missense_Mutation_p.R128S	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	199						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CGCCAGCCAGGTACCCAATGG	0.587													False	0	True	4:54967769	0	T	54967769	G	T	54967769	3	4	88	1	0	0	0	0	1	0	0	0	6897	1261	44	3	601	3	GSX2	4	54967769	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1057	54967769	136186507	5100	12812											
PDGFRA	5156	broad.mit.edu	37	chr4	55140704	55140704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgtcacgtagccctgcGttctgaactcacggtggctg	11	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55140704G>A	ENST00000257290.5	+	11	1896	c.1565G>A	c.(1564-1566)cGt>cAt	p.R522H	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	522					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTAGCCCTGCGTTCTGAACTC	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			False	0	False	4:55140704	0	A	55140704	G	A	55140704	3	1	88	1	0	0	0	0	1	0	0	0	11729	1145	40	1	1603	1	PDGFRA	4	55140704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172935	55140704	136013572	5101	12813											
PDGFRA	5156	broad.mit.edu	37	chr4	55156501	55156501	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttatgaaaaaattcacctgGacttcctgaagagtgaccat	8	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55156501G>A	ENST00000257290.5	+	22	3233	c.2902G>A	c.(2902-2904)Gac>Aac	p.D968N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D728N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	968					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AATTCACCTGGACTTCCTGAA	0.393			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			False	0	False	4:55156501	0	A	55156501	G	A	55156501	3	1	88	1	0	0	0	0	1	0	0	0	11729	1174	41	2	2984	2	PDGFRA	4	55156501	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15797	55156501	135997775	5102	12814											
PDGFRA	5156	broad.mit.edu	37	chr4	55156639	55156639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgagcagagactgagcGctgacagtggctacatcatt	13	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55156639G>A	ENST00000257290.5	+	22	3371	c.3040G>A	c.(3040-3042)Gct>Act	p.A1014T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.A774T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1014					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.A1014_S1016delADS(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAGACTGAGCGCTGACAGTGG	0.557			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			False	0	False	4:55156639	0	A	55156639	G	A	55156639	3	1	88	1	0	0	0	0	1	0	0	0	11729	1087	38	1	3122	1	PDGFRA	4	55156639	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138	55156639	135997637	5103	12815											
KIT	3815	broad.mit.edu	37	chr4	55565810	55565810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctagccttcaaagctgtgCctgttgtgtctgtgtccaaa	9	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55565810C>T	ENST00000288135.5	+	4	731	c.634C>T	c.(634-636)Cct>Tct	p.P212S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	212	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAGCTGTGCCTGTTGTGTC	0.388		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				False	0	False	4:55565810	0	T	55565810	C	T	55565810	3	4	88	1	0	0	0	0	1	0	0	0	8379	739	26	2	648	2	KIT	4	55565810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	409171	55565810	135588466	5104	12816											
KIT	3815	broad.mit.edu	37	chr4	55569916	55569916	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctacaggagaaatataatagCtggcatcacggtgacttcaa	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55569916C>A	ENST00000288135.5	+	5	880	c.783C>A	c.(781-783)agC>agA	p.S261R		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	261	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATATAATAGCTGGCATCACG	0.343		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				False	0	False	4:55569916	0	A	55569916	C	A	55569916	3	1	88	1	0	0	0	0	1	0	0	0	8379	796	28	3	801	3	KIT	4	55569916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4106	55569916	135584360	5105	12817											
KIT	3815	broad.mit.edu	37	chr4	55575592	55575592	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcttttctttgtagatAcgtaagtgaacttcatctaa	7	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55575592A>G	ENST00000288135.5	+	7	1215	c.1118A>G	c.(1117-1119)tAc>tGc	p.Y373C		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	373	Ig-like C2-type 4.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTTGTAGATACGTAAGTGAA	0.413		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				False	0	False	4:55575592	0	G	55575592	A	G	55575592	3	3	88	1	0	0	0	0	1	0	0	0	8379	391	14	4	1144	4	KIT	4	55575592	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5676	55575592	135578684	5106	12818											
KIT	3815	broad.mit.edu	37	chr4	55597497	55597497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcatctctcccagcagCgatagtactaatgagtacat	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55597497C>T	ENST00000288135.5	+	15	2242	c.2145C>T	c.(2143-2145)agC>agT	p.S715S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	715	Protein kinase.		S -> N (in dbSNP:rs56094246).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.S715del(7)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCAGCAGCGATAGTACTA	0.458		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				False	0	False	4:55597497	0	T	55597497	C	T	55597497	2	4	88	1	0	0	0	0	0	0	0	1	8379	767	27	1		1	KIT	4	55597497	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21905	55597497	135556779	5107	12819											
KIT	3815	broad.mit.edu	37	chr4	55602902	55602902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggaagcagcccctatcCtggaatgccggtcgattcta	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55602902C>A	ENST00000288135.5	+	19	2709	c.2612C>A	c.(2611-2613)cCt>cAt	p.P871H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	871	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCCCCTATCCTGGAATGCCG	0.458		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				False	0	False	4:55602902	0	A	55602902	C	A	55602902	3	1	88	1	0	0	0	0	1	0	0	0	8379	681	24	3	2686	3	KIT	4	55602902	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5405	55602902	135551374	5108	12820											
KDR	3791	broad.mit.edu	37	chr4	55987321	55987321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taagtatgtctttttgtatgCtgagcctgggcagatcaaga	11	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55987321C>A	ENST00000263923.4	-	2	399	c.104G>T	c.(103-105)aGc>aTc	p.S35I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	35					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTTGTATGCTGAGCCTGGG	0.348			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			False	0	False	4:55987321	0	A	55987321	C	A	55987321	3	1	88	1	0	0	0	0	1	0	0	0	8189	797	28	3	4082	3	KDR	4	55987321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	384419	55987321	135166955	5109	12821											
SRD5A3	79644	broad.mit.edu	37	chr4	56236230	56236230	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcttacccgaagcataGgaaagctttcctaccatttt	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56236230G>T	ENST00000264228.4	+	5	1157	c.929G>T	c.(928-930)aGg>aTg	p.R310M	SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	310					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			CCGAAGCATAGGAAAGCTTTC	0.433													False	0	False	4:56236230	0	T	56236230	G	T	56236230	3	4	88	1	0	0	0	0	1	0	0	0	15222	1000	35	3	947	3	SRD5A3	4	56236230	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	248909	56236230	134918046	5110	12822											
TMEM165	55858	broad.mit.edu	37	chr4	56277926	56277926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagacattttttatagcagCcatcatggcaatgcgctata	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56277926C>T	ENST00000381334.5	+	2	586	c.353C>T	c.(352-354)gCc>gTc	p.A118V	TMEM165_ENST00000542052.1_Missense_Mutation_p.A55V|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	118						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TTTATAGCAGCCATCATGGCA	0.448													False	0	False	4:56277926	0	T	56277926	C	T	56277926	3	4	88	1	0	0	0	0	1	0	0	0	16162	739	26	2	359	2	TMEM165	4	56277926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41696	56277926	134876350	5111	12823											
TMEM165	55858	broad.mit.edu	37	chr4	56283999	56283999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaacttttaaatggaccGggagatgttgaaacgggtac	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56283999G>A	ENST00000381334.5	+	4	872	c.639G>A	c.(637-639)ccG>ccA	p.P213P	TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Silent_p.P150P|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	213						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TAAATGGACCGGGAGATGTTG	0.333													False	0	True	4:56283999	0	A	56283999	G	A	56283999	2	1	88	1	0	0	0	0	0	0	0	1	16162	1103	39	1		1	TMEM165	4	56283999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6073	56283999	134870277	5112	12824											
CLOCK	9575	broad.mit.edu	37	chr4	56304679	56304679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggagcagtcactaatttggTcacaagttgttgaccttgag	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56304679T>C	ENST00000309964.4	-	21	2381	c.2131A>G	c.(2131-2133)Acc>Gcc	p.T711A	CLOCK_ENST00000381322.1_Missense_Mutation_p.T711A|CLOCK_ENST00000513440.1_Missense_Mutation_p.T711A	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	711					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ACTAATTTGGTCACAAGTTGT	0.408													False	0	False	4:56304679	0	C	56304679	T	C	56304679	3	2	88	1	0	0	0	0	1	0	0	0	3572	1667	58	4	417	4	CLOCK	4	56304679	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20680	56304679	134849597	5113	12825											
CLOCK	9575	broad.mit.edu	37	chr4	56310933	56310933	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagatgttgcatggctcctAattgagctgaaaactgaaac	9	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56310933A>C	ENST00000309964.4	-	18	1809	c.1559T>G	c.(1558-1560)tTa>tGa	p.L520*	CLOCK_ENST00000381322.1_Nonsense_Mutation_p.L520*|CLOCK_ENST00000513440.1_Nonsense_Mutation_p.L520*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	520	Implicated in the circadian rhythmicity (By similarity).				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGGCTCCTAATTGAGCTGA	0.343													False	0	False	4:56310933	0	C	56310933	A	C	56310933	4	2	88	1	0	0	0	0	0	1	0	0	3572	372	13	4	1001	4	CLOCK	4	56310933	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6254	56310933	134843343	5114	12826											
CLOCK	9575	broad.mit.edu	37	chr4	56345083	56345083	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccagttctttaatgagaAcattaaattgatctctacgt	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56345083A>C	ENST00000309964.4	-	5	405	c.155T>G	c.(154-156)gTt>gGt	p.V52G	CLOCK_ENST00000506923.1_5'UTR|CLOCK_ENST00000381322.1_Missense_Mutation_p.V52G|CLOCK_ENST00000513440.1_Missense_Mutation_p.V52G	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	52	Helix-loop-helix motif.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			tttaatgagaacattAAATTG	0.299													False	0	False	4:56345083	0	C	56345083	A	C	56345083	3	2	88	1	0	0	0	0	1	0	0	0	3572	43	2	4	2457	4	CLOCK	4	56345083	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34150	56345083	134809193	5115	12827											
CLOCK	9575	broad.mit.edu	37	chr4	56348963	56348963	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacaacataacatactacGttttcgtcttgtagtagaca	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56348963G>A	ENST00000309964.4	-	0	240				CLOCK_ENST00000506923.1_5'UTR|CLOCK_ENST00000381322.1_De_novo_Start_InFrame|CLOCK_ENST00000513440.1_De_novo_Start_InFrame	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator						circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AACATACTACGTTTTCGTCTT	0.284													False	0	True	4:56348963	0	A	56348963	G	A	56348963	1	1	88	1	0	0	0	0	0	0	0	0	3572	1160	40	1		1	CLOCK	4	56348963	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3880	56348963	134805313	5116	12828											
EXOC1	55763	broad.mit.edu	37	chr4	56770575	56770575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actttgaaggtttgatagctCgctgttatcctggatctggt	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56770575C>T	ENST00000381295.2	+	19	2947	c.2599C>T	c.(2599-2601)Cgc>Tgc	p.R867C	EXOC1_ENST00000349598.6_Missense_Mutation_p.R852C|EXOC1_ENST00000346134.7_Missense_Mutation_p.R867C	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	867					exocytosis|protein transport	exocyst	protein binding	p.R867C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTTGATAGCTCGCTGTTATCC	0.383													False	0	False	4:56770575	0	T	56770575	C	T	56770575	3	4	88	1	0	0	0	0	1	0	0	0	5333	884	31	1	2669	1	EXOC1	4	56770575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	421612	56770575	134383701	5117	12829											
CEP135	9662	broad.mit.edu	37	chr4	56831839	56831839	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagcaagctaataaagaCctggagaagcgtatacgaga	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56831839C>T	ENST00000257287.4	+	8	982	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	286					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CTAATAAAGACCTGGAGAAGC	0.328													False	0	False	4:56831839	0	T	56831839	C	T	56831839	2	4	88	1	0	0	0	0	0	0	0	1	3270	506	18	2		2	CEP135	4	56831839	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61264	56831839	134322437	5118	12830											
CEP135	9662	broad.mit.edu	37	chr4	56846364	56846364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagagatgaacttcagcGtatgctagaaagatttgaaa	10	4	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56846364G>A	ENST00000257287.4	+	12	1653	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	510					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAACTTCAGCGTATGCTAGAA	0.289													False	0	False	4:56846364	0	A	56846364	G	A	56846364	3	1	88	1	0	0	0	0	1	0	0	0	3270	1145	40	1	1571	1	CEP135	4	56846364	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14525	56846364	134307912	5119	12831											
KIAA1211	57482	broad.mit.edu	37	chr4	57179456	57179456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccatccccctggccatcGctcgcctggacaacagtgcc	9	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57179456G>A	ENST00000504228.1	+	5	553	c.448G>A	c.(448-450)Gct>Act	p.A150T	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A150T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A143T			Q6ZU35	K1211_HUMAN	KIAA1211	150										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCTGGCCATCGCTCGCCTGGA	0.552													False	0	True	4:57179456	0	A	57179456	G	A	57179456	3	1	88	1	0	0	0	0	1	0	0	0	8265	1087	38	1	462	1	KIAA1211	4	57179456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	333092	57179456	133974820	5120	12832											
KIAA1211	57482	broad.mit.edu	37	chr4	57193927	57193927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggctggctttggccaaaaGgaaagcaaaggcttggagcg	15	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57193927G>T	ENST00000504228.1	+	9	3764	c.3659G>T	c.(3658-3660)aGg>aTg	p.R1220M	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1220M|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1213M			Q6ZU35	K1211_HUMAN	KIAA1211	1220										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTGGCCAAAAGGAAAGCAAAG	0.532													False	0	True	4:57193927	0	T	57193927	G	T	57193927	3	4	88	1	0	0	0	0	1	0	0	0	8265	1000	35	3	3689	3	KIAA1211	4	57193927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14471	57193927	133960349	5121	12833											
AASDH	132949	broad.mit.edu	37	chr4	57215710	57215710	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttcagaaacttttgcaacaCaggatggatcttttgacttc	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57215710C>G	ENST00000205214.6	-	11	2387	c.2207G>C	c.(2206-2208)tGt>tCt	p.C736S	AASDH_ENST00000602986.1_Missense_Mutation_p.C583S|AASDH_ENST00000513376.1_Missense_Mutation_p.C636S|AASDH_ENST00000434343.2_Missense_Mutation_p.C251S|AASDH_ENST00000502617.1_Missense_Mutation_p.C736S|AASDH_ENST00000451613.1_Missense_Mutation_p.C736S	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	736					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTTGCAACACAGGATGGATC	0.428													False	0	False	4:57215710	0	G	57215710	C	G	57215710	3	3	88	1	0	0	0	0	1	0	0	0	22	478	17	5	1109	5	AASDH	4	57215710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21783	57215710	133938566	5122	12834											
AASDH	132949	broad.mit.edu	37	chr4	57244420	57244420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataggctaagcaatgctttaGcctcagatccatgtgttctt	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57244420G>T	ENST00000205214.6	-	4	742	c.562C>A	c.(562-564)Cta>Ata	p.L188I	AASDH_ENST00000602986.1_Missense_Mutation_p.L35I|AASDH_ENST00000513376.1_Missense_Mutation_p.L88I|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Missense_Mutation_p.L188I|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000451613.1_Missense_Mutation_p.L188I	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	188					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CAATGCTTTAGCCTCAGATCC	0.368													False	0	False	4:57244420	0	T	57244420	G	T	57244420	3	4	88	1	0	0	0	0	1	0	0	0	22	962	34	3	2782	3	AASDH	4	57244420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28710	57244420	133909856	5123	12835											
PPAT	5471	broad.mit.edu	37	chr4	57266984	57266984	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caagagcagcaggcgtagcaGattctggaacagtgctaacc	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57266984G>A	ENST00000264220.2	-	8	1117	c.980C>T	c.(979-981)tCt>tTt	p.S327F		NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	327					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	AGGCGTAGCAGATTCTGGAAC	0.458													False	0	False	4:57266984	0	A	57266984	G	A	57266984	3	1	88	1	0	0	0	0	1	0	0	0	12371	942	33	2	589	2	PPAT	4	57266984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22564	57266984	133887292	5124	12836											
PPAT	5471	broad.mit.edu	37	chr4	57269561	57269561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagaccaataccatgacGcagaagctatatagaaaaaa	7	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57269561G>A	ENST00000264220.2	-	4	546	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	137	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	ATACCATGACGCAGAAGCTAT	0.448													False	0	False	4:57269561	0	A	57269561	G	A	57269561	3	1	88	1	0	0	0	0	1	0	0	0	12371	1087	38	1	1176	1	PPAT	4	57269561	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2577	57269561	133884715	5125	12837											
PAICS	10606	broad.mit.edu	37	chr4	57325540	57325540	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccttgctgaaccaataggtCttggctgttcaaccgtactt	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57325540C>A	ENST00000514888.1	+	10	1353	c.838C>A	c.(838-840)Ctt>Att	p.L280I	PAICS_ENST00000264221.2_Missense_Mutation_p.L372I|PAICS_ENST00000512576.1_Missense_Mutation_p.L372I|PAICS_ENST00000399688.3_Missense_Mutation_p.L379I			P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	372	AIR carboxylase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	ACCAATAGGTCTTGGCTGTTC	0.403													False	0	False	4:57325540	0	A	57325540	C	A	57325540	3	1	88	1	0	0	0	0	1	0	0	0	11463	913	32	3	1173	3	PAICS	4	57325540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55979	57325540	133828736	5126	12838											
PAICS	10606	broad.mit.edu	37	chr4	57325556	57325556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttggctgttcaaccgTactttctccagaaggatcag	10	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57325556T>C	ENST00000514888.1	+	10	1369	c.854T>C	c.(853-855)gTa>gCa	p.V285A	PAICS_ENST00000264221.2_Missense_Mutation_p.V377A|PAICS_ENST00000512576.1_Missense_Mutation_p.V377A|PAICS_ENST00000399688.3_Missense_Mutation_p.V384A			P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	377	AIR carboxylase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TGTTCAACCGTACTTTCTCCA	0.383													False	0	False	4:57325556	0	C	57325556	T	C	57325556	3	2	88	1	0	0	0	0	1	0	0	0	11463	1638	57	4	1189	4	PAICS	4	57325556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16	57325556	133828720	5127	12839											
SRP72	6731	broad.mit.edu	37	chr4	57366836	57366836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaaagggacccagggaGcaactgcaggagcttcatct	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57366836G>T	ENST00000342756.5	+	18	2534	c.1813G>T	c.(1813-1815)Gca>Tca	p.A605S	SRP72_ENST00000510663.1_Missense_Mutation_p.A544S	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	605					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GACCCAGGGAGCAACTGCAGG	0.453													False	0	False	4:57366836	0	T	57366836	G	T	57366836	3	4	88	1	0	0	0	0	1	0	0	0	15239	971	34	3	1883	3	SRP72	4	57366836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41280	57366836	133787440	5128	12840											
REST	5978	broad.mit.edu	37	chr4	57776821	57776821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttatggccacccaggtaaTggggcagtcttctggaggag	15	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57776821T>C	ENST00000309042.7	+	2	331	c.17T>C	c.(16-18)aTg>aCg	p.M6T		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	6					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ACCCAGGTAATGGGGCAGTCT	0.448													False	0	True	4:57776821	0	C	57776821	T	C	57776821	3	2	88	1	0	0	0	0	1	0	0	0	13313	1464	51	4	19	4	REST	4	57776821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	409985	57776821	133377455	5129	12841											
REST	5978	broad.mit.edu	37	chr4	57777141	57777141	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaacatggaactgagaAgtttggaactcagcgtcgta	12	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57777141A>C	ENST00000309042.7	+	2	651	c.337A>C	c.(337-339)Agt>Cgt	p.S113R		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	113	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GGAACTGAGAAGTTTGGAACT	0.433													False	0	False	4:57777141	0	C	57777141	A	C	57777141	3	2	88	1	0	0	0	0	1	0	0	0	13313	72	3	4	339	4	REST	4	57777141	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	320	57777141	133377135	5130	12842											
REST	5978	broad.mit.edu	37	chr4	57777432	57777432	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttccactgcagaagagggaGatttctccaagggccccatt	10	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57777432G>T	ENST00000309042.7	+	2	942	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	210					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGAAGAGGGAGATTTCTCCAA	0.493													False	0	False	4:57777432	0	T	57777432	G	T	57777432	3	4	88	1	0	0	0	0	1	0	0	0	13313	942	33	3	630	3	REST	4	57777432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291	57777432	133376844	5131	12843											
REST	5978	broad.mit.edu	37	chr4	57796239	57796239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaagaagtgtaatctacaGtatcacttcaaatctaagca	5	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796239G>T	ENST00000309042.7	+	4	1529	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	405	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GTAATCTACAGTATCACTTCA	0.388													False	0	False	4:57796239	0	T	57796239	G	T	57796239	3	4	88	1	0	0	0	0	1	0	0	0	13313	1020	36	3	1225	3	REST	4	57796239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18807	57796239	133358037	5132	12844											
REST	5978	broad.mit.edu	37	chr4	57796731	57796731	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagtggaggagaataaAaagcaaaatacttgcatgaa	10	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796731A>C	ENST00000309042.7	+	4	2021	c.1707A>C	c.(1705-1707)aaA>aaC	p.K569N		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	569	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGGAGAATAAAAAGCAAAATA	0.343													False	0	True	4:57796731	0	C	57796731	A	C	57796731	3	2	88	1	0	0	0	0	1	0	0	0	13313	11	1	4	1717	4	REST	4	57796731	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	492	57796731	133357545	5133	12845											
REST	5978	broad.mit.edu	37	chr4	57796834	57796834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggaacctgttgagaagGgatctgctcagatggaccct	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796834G>A	ENST00000309042.7	+	4	2124	c.1810G>A	c.(1810-1812)Gga>Aga	p.G604R		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	604	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGTTGAGAAGGGATCTGCTCA	0.498													False	0	True	4:57796834	0	A	57796834	G	A	57796834	3	1	88	1	0	0	0	0	1	0	0	0	13313	1233	43	2	1820	2	REST	4	57796834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103	57796834	133357442	5134	12846											
REST	5978	broad.mit.edu	37	chr4	57797303	57797303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtggtccagaaggaacCtgttaagatagagctgtctc	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57797303C>A	ENST00000309042.7	+	4	2593	c.2279C>A	c.(2278-2280)cCt>cAt	p.P760H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	760	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.M753_P768delMEVVQKEPVKIELSPP(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAGAAGGAACCTGTTAAGATA	0.557													False	0	False	4:57797303	0	A	57797303	C	A	57797303	3	1	88	1	0	0	0	0	1	0	0	0	13313	681	24	3	2289	3	REST	4	57797303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	469	57797303	133356973	5135	12847											
POLR2B	5431	broad.mit.edu	37	chr4	57876529	57876529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctatttttttctaggtGttaaaccgcctgacttttgc	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57876529G>A	ENST00000381227.1	+	12	1820	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V	POLR2B_ENST00000431623.2_Silent_p.V394V|POLR2B_ENST00000441246.2_Silent_p.V462V|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000314595.5_Silent_p.V469V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	469					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTTCTAGGTGTTAAACCGCC	0.373													False	0	False	4:57876529	0	A	57876529	G	A	57876529	2	1	88	1	0	0	0	0	0	0	0	1	12284	1364	48	2		2	POLR2B	4	57876529	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79226	57876529	133277747	5136	12848											
POLR2B	5431	broad.mit.edu	37	chr4	57887134	57887134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactctgttatcatgaatcGttcagctgtagaccgcggct	10	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57887134G>A	ENST00000381227.1	+	18	2806	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	POLR2B_ENST00000431623.2_Missense_Mutation_p.R723H|POLR2B_ENST00000441246.2_Missense_Mutation_p.R791H|POLR2B_ENST00000314595.5_Missense_Mutation_p.R798H			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	798					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATCATGAATCGTTCAGCTGTA	0.353													False	0	False	4:57887134	0	A	57887134	G	A	57887134	3	1	88	1	0	0	0	0	1	0	0	0	12284	1145	40	1	2459	1	POLR2B	4	57887134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10605	57887134	133267142	5137	12849											
LPHN3	23284	broad.mit.edu	37	chr4	62598530	62598530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgaacatttgtttgagtcCgaccaccaatctggggcgtg	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:62598530C>T	ENST00000512091.2	+	7	1200	c.453C>T	c.(451-453)tcC>tcT	p.S151S	LPHN3_ENST00000506720.1_Silent_p.S219S|LPHN3_ENST00000506746.1_Silent_p.S219S|LPHN3_ENST00000509896.1_Silent_p.S219S|LPHN3_ENST00000507164.1_Silent_p.S219S|LPHN3_ENST00000507625.1_Silent_p.S219S|LPHN3_ENST00000508946.1_Silent_p.S151S|LPHN3_ENST00000545650.1_Silent_p.S151S|LPHN3_ENST00000514157.1_Silent_p.S151S|LPHN3_ENST00000514591.1_Silent_p.S151S|LPHN3_ENST00000508693.1_Silent_p.S219S|LPHN3_ENST00000504896.1_Silent_p.S151S|LPHN3_ENST00000514996.1_Silent_p.S151S|LPHN3_ENST00000506700.1_Silent_p.S151S|LPHN3_ENST00000511324.1_Silent_p.S219S			Q9HAR2	LPHN3_HUMAN	latrophilin 3		Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTTTGAGTCCGACCACCAAT	0.408													False	0	False	4:62598530	0	T	62598530	C	T	62598530	2	4	88	1	0	0	0	0	0	0	0	1	8979	639	23	1		1	LPHN3	4	62598530	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4711396	62598530	128555746	5138	12850											
LPHN3	23284	broad.mit.edu	37	chr4	62599163	62599163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttcctaattcataccaGtacattgcagctgtggatta	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:62599163G>A	ENST00000512091.2	+	7	1833	c.1086G>A	c.(1084-1086)caG>caA	p.Q362Q	LPHN3_ENST00000506720.1_Silent_p.Q430Q|LPHN3_ENST00000506746.1_Silent_p.Q430Q|LPHN3_ENST00000509896.1_Silent_p.Q430Q|LPHN3_ENST00000507164.1_Silent_p.Q430Q|LPHN3_ENST00000507625.1_Silent_p.Q430Q|LPHN3_ENST00000508946.1_Silent_p.Q362Q|LPHN3_ENST00000545650.1_Silent_p.Q362Q|LPHN3_ENST00000514157.1_Silent_p.Q362Q|LPHN3_ENST00000514591.1_Silent_p.Q362Q|LPHN3_ENST00000508693.1_Silent_p.Q430Q|LPHN3_ENST00000504896.1_Silent_p.Q362Q|LPHN3_ENST00000514996.1_Silent_p.Q362Q|LPHN3_ENST00000506700.1_Silent_p.Q362Q|LPHN3_ENST00000511324.1_Silent_p.Q430Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3		Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATTCATACCAGTACATTGCAG	0.393													False	0	False	4:62599163	0	A	62599163	G	A	62599163	2	1	88	1	0	0	0	0	0	0	0	1	8979	1020	36	2		2	LPHN3	4	62599163	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	633	62599163	128555113	5139	12851											
EPHA5	2044	broad.mit.edu	37	chr4	66217294	66217294	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgccaacaagctgaatcAcagtgaactgcccatcgttt	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66217294A>G	ENST00000273854.3	-	14	2921	c.2321T>C	c.(2320-2322)gTg>gCg	p.V774A	EPHA5_ENST00000432638.2_Missense_Mutation_p.V611A|EPHA5_ENST00000354839.4_Missense_Mutation_p.V752A|EPHA5_ENST00000511294.1_Missense_Mutation_p.V775A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	774	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAGCTGAATCACAGTGAACTG	0.423										TSP Lung(17;0.13)			False	0	False	4:66217294	0	G	66217294	A	G	66217294	3	3	88	1	0	0	0	0	1	0	0	0	5202	159	6	4	812	4	EPHA5	4	66217294	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3618131	66217294	124936982	5140	12852											
EPHA5	2044	broad.mit.edu	37	chr4	66280142	66280142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctttagatttgataatcGtgtagctggtctcttggtcc	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66280142G>A	ENST00000273854.3	-	7	2147	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M	EPHA5_ENST00000432638.2_Missense_Mutation_p.T352M|EPHA5_ENST00000354839.4_Missense_Mutation_p.T516M|EPHA5_ENST00000511294.1_Missense_Mutation_p.T516M	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	516	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTGATAATCGTGTAGCTGGT	0.388										TSP Lung(17;0.13)			False	0	False	4:66280142	0	A	66280142	G	A	66280142	3	1	88	1	0	0	0	0	1	0	0	0	5202	1145	40	1	1614	1	EPHA5	4	66280142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62848	66280142	124874134	5141	12853											
EPHA5	2044	broad.mit.edu	37	chr4	66356119	66356119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatttgtggttacatttaCagacacatactgccgggctc	9	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66356119C>T	ENST00000273854.3	-	5	1978	c.1378G>A	c.(1378-1380)Gta>Ata	p.V460I	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.V460I|EPHA5_ENST00000511294.1_Missense_Mutation_p.V460I	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	460					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTTACATTTACAGACACATAC	0.473										TSP Lung(17;0.13)			False	0	False	4:66356119	0	T	66356119	C	T	66356119	3	4	88	1	0	0	0	0	1	0	0	0	5202	478	17	2	1791	2	EPHA5	4	66356119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75977	66356119	124798157	5142	12854											
EPHA5	2044	broad.mit.edu	37	chr4	66356255	66356255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccgctttgccggggaagGtacctgacatgaccgccaca	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66356255G>A	ENST00000273854.3	-	5	1842	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Silent_p.Y414Y|EPHA5_ENST00000511294.1_Silent_p.Y414Y	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	414	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GCCGGGGAAGGTACCTGACAT	0.493										TSP Lung(17;0.13)			False	0	False	4:66356255	0	A	66356255	G	A	66356255	2	1	88	1	0	0	0	0	0	0	0	1	5202	1256	44	2		2	EPHA5	4	66356255	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136	66356255	124798021	5143	12855											
EPHA5	2044	broad.mit.edu	37	chr4	66361172	66361172	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttttcacagacacaagaggTtgaagcttcctcatgggtat	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66361172T>A	ENST00000273854.3	-	4	1600	c.1000A>T	c.(1000-1002)Acc>Tcc	p.T334S	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.T334S|EPHA5_ENST00000511294.1_Missense_Mutation_p.T334S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	334	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACACAAGAGGTTGAAGCTTCC	0.478										TSP Lung(17;0.13)			False	0	False	4:66361172	0	A	66361172	T	A	66361172	3	1	88	1	0	0	0	0	1	0	0	0	5202	1725	60	5	2173	5	EPHA5	4	66361172	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4917	66361172	124793104	5144	12856											
UBA6	55236	broad.mit.edu	37	chr4	68490771	68490771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataattttaccagctatgcGctttgttttgaaacggtcag	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68490771G>A	ENST00000322244.5	-	29	2712	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CCAGCTATGCGCTTTGTTTTG	0.373													False	0	False	4:68490771	0	A	68490771	G	A	68490771	3	1	88	1	0	0	0	0	1	0	0	0	16916	1087	38	1	525	1	UBA6	4	68490771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2129599	68490771	122663505	5145	12857											
UBA6	55236	broad.mit.edu	37	chr4	68501275	68501275	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttagatttgctaagcaacGactatttgaaaagacagcaa	7	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68501275G>A	ENST00000322244.5	-	20	1797	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GCTAAGCAACGACTATTTGAA	0.363													False	0	False	4:68501275	0	A	68501275	G	A	68501275	5	1	88	1	0	0	0	0	0	0	1	0	16916	1072	37	1	1476	1	UBA6	4	68501275	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10504	68501275	122653001	5146	12858											
GNRHR	0	broad.mit.edu	37	chr4	68610471	68610471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacttttgtctgtccagagCtgtctgctagatgaatcatc	8	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68610471C>T	ENST00000226413.4	-	2	581	c.557G>A	c.(556-558)aGc>aAc	p.S186N	UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Intron|UBA6-AS1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	186					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	CTGTCCAGAGCTGTCTGCTAG	0.358													False	0	False	4:68610471	0	T	68610471	C	T	68610471	3	4	88	1	0	0	0	0	1	0	0	0	6594	797	28	2	437	2	GNRHR	4	68610471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109196	68610471	122543805	5147	12859											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68688070	68688070	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcactagatcccagtttgTtgcctaatccagtcaaggta	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68688070T>C	ENST00000283916.6	-	10	1340	c.1242A>G	c.(1240-1242)caA>caG	p.Q414Q	TMPRSS11D_ENST00000545541.1_Silent_p.Q297Q|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	414	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCCCAGTTTGTTGCCTAATCC	0.463													False	0	False	4:68688070	0	C	68688070	T	C	68688070	2	2	88	1	0	0	0	0	0	0	0	1	16323	1722	60	4		4	TMPRSS11D	4	68688070	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77599	68688070	122466206	5148	12860											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68725349	68725349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgacgacaatgaaacatActacatatggattcagaaat	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68725349A>G	ENST00000283916.6	-	2	154	c.56T>C	c.(55-57)gTa>gCa	p.V19A	TMPRSS11D_ENST00000545541.1_Intron|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	19					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AATGAAACATACTACATATGG	0.388													False	0	False	4:68725349	0	G	68725349	A	G	68725349	3	3	88	1	0	0	0	0	1	0	0	0	16323	391	14	4	1236	4	TMPRSS11D	4	68725349	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37279	68725349	122428927	5149	12861											
YTHDC1	91746	broad.mit.edu	37	chr4	69184570	69184570	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttcctggtatcgtggatcCtttaaataccctgttcaaac	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69184570C>A	ENST00000344157.4	-	13	2030	c.1695G>T	c.(1693-1695)aaG>aaT	p.K565N	YTHDC1_ENST00000579690.1_Missense_Mutation_p.K565N|YTHDC1_ENST00000355665.3_Missense_Mutation_p.K547N	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	565	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ATCGTGGATCCTTTAAATACC	0.323													False	0	True	4:69184570	0	A	69184570	C	A	69184570	3	1	88	1	0	0	0	0	1	0	0	0	17580	680	24	3	508	3	YTHDC1	4	69184570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	459221	69184570	121969706	5150	12862											
YTHDC1	91746	broad.mit.edu	37	chr4	69197819	69197819	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagaactgatgctaatAccttcgctttggcaagagac	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69197819A>G	ENST00000344157.4	-	7	1458		c.e7+1		YTHDC1_ENST00000579690.1_Splice_Site|YTHDC1_ENST00000355665.3_Splice_Site	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1											NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TGATGCTAATACCTTCGCTTT	0.313													False	0	False	4:69197819	0	G	69197819	A	G	69197819	5	3	88	1	0	0	0	0	0	0	1	0	17580	405	14	4	1103	4	YTHDC1	4	69197819	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13249	69197819	121956457	5151	12863											
YTHDC1	91746	broad.mit.edu	37	chr4	69202958	69202958	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctccatcttcatccacctCttcatcttcttctgcatctt	1	17	9	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69202958C>T	ENST00000344157.4	-	4	1005	c.670G>A	c.(670-672)Gag>Aag	p.E224K	YTHDC1_ENST00000579690.1_Missense_Mutation_p.E224K|YTHDC1_ENST00000355665.3_Missense_Mutation_p.E224K	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	224	Glu-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						tcatccacctcttcatcttct	0.478													False	0	False	4:69202958	0	T	69202958	C	T	69202958	3	4	88	1	0	0	0	0	1	0	0	0	17580	922	32	2	1569	2	YTHDC1	4	69202958	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5139	69202958	121951318	5152	12864											
YTHDC1	91746	broad.mit.edu	37	chr4	69203124	69203124	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcacttcttccttagaagaCtggctggatctgcttgcacg	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69203124C>A	ENST00000344157.4	-	4	839	c.504G>T	c.(502-504)caG>caT	p.Q168H	YTHDC1_ENST00000579690.1_Missense_Mutation_p.Q168H|YTHDC1_ENST00000355665.3_Missense_Mutation_p.Q168H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	168										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCTTAGAAGACTGGCTGGATC	0.448													False	0	True	4:69203124	0	A	69203124	C	A	69203124	3	1	88	1	0	0	0	0	1	0	0	0	17580	564	20	3	1735	3	YTHDC1	4	69203124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166	69203124	121951152	5153	12865											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69327568	69327568	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagggctaggaaaagagTttgttgggaaccctgggtta	17	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69327568T>G	ENST00000305363.4	+	2	105	c.41T>G	c.(40-42)gTt>gGt	p.V14G		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	14					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGGAAAAGAGTTTGTTGGGAA	0.418													False	0	True	4:69327568	0	G	69327568	T	G	69327568	3	3	88	1	0	0	0	0	1	0	0	0	16324	1725	60	4	47	4	TMPRSS11E	4	69327568	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	124444	69327568	121826708	5154	12866											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69344605	69344605	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcgacaagcacaggtgactCtcatagacgctacaacttgc	8	12	1	2	rs138430854		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69344605C>T	ENST00000305363.4	+	9	1070	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	336	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.L336F(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ACAGGTGACTCTCATAGACGC	0.353													False	0	False	4:69344605	0	T	69344605	C	T	69344605	3	4	88	1	0	0	0	0	1	0	0	0	16324	913	32	2	1040	2	TMPRSS11E	4	69344605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17037	69344605	121809671	5155	12867											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69362479	69362480	+	Frame_Shift_Ins	INS	-	-	CACCC													cctggtgtttatactagagtINStacggccttgcgggactgga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69362479_69362480insCACCC	ENST00000305363.4	+	10	1293_1294	c.1229_1230insCACCC	c.(1228-1233)gttacgfs	p.-411fs		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E						proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TATACTAGAGTTACGGCCTTGC	0.436													False	0	False	4:69362479	0	CACCC	69362480	-	CACCC	69362479	7	5	88	1	0	1	1	0	0	0	0	0	16324	1725	60	0	1267	0	TMPRSS11E	4	69362479	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	17874	69362479	121791797	5156	12868	170	2									
TMPRSS11E	28983	broad.mit.edu	37	chr4	69362481	69362482	+	Frame_Shift_Ins	INS	-	-	AAGGAGAAGACAGAAATTAGTAATTCATAATT													tggtgtttatactagagttaINScggccttgcgggactggatt					rs141580903	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69362481_69362482insAAGGAGAAGACAGAAATTAGTAATTCATAATT	ENST00000305363.4	+	10	1295_1296	c.1231_1232insAAGGAGAAGACAGAAATTAGTAATTCATAATT	c.(1231-1233)acgfs	p.T411fs		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	411	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TACTAGAGTTACGGCCTTGCGG	0.431													False	0	False	4:69362481	0	AAGGAGAAGACAGAAATTAGTAATTCATAATT	69362482	-	AAGGAGAAGACAGAAATTAGTAATTCATAATT	69362481	7	5	88	1	0	1	1	0	0	0	0	0	16324	391	14	0	1269	0	TMPRSS11E	4	69362481	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	2	69362481	121791795	5157	12869	170	2									
UGT2B15	7366	broad.mit.edu	37	chr4	69519975	69519975	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttggttttgggatgacCtaaaagtggatgcattttaa	11	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69519975C>T	ENST00000338206.5	-	5	1103		c.e5-1			NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15						steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TTGGGATGACCTAAAAGTGGA	0.378													False	0	False	4:69519975	0	T	69519975	C	T	69519975	5	4	88	1	0	0	0	0	0	0	1	0	17042	695	24	2	2124	2	UGT2B15	4	69519975	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157494	69519975	121634301	5158	12870											
UGT2B10	7365	broad.mit.edu	37	chr4	69682216	69682216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgtggtgagctgctggCtgagctatttaacataccct	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69682216C>T	ENST00000265403.7	+	1	506	c.479C>T	c.(478-480)gCt>gTt	p.A160V	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	160					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGCTGCTGGCTGAGCTATTT	0.393													False	0	True	4:69682216	0	T	69682216	C	T	69682216	3	4	88	1	0	0	0	0	1	0	0	0	17040	797	28	2	481	2	UGT2B10	4	69682216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162241	69682216	121472060	5159	12871											
UGT2A3	79799	broad.mit.edu	37	chr4	69796399	69796399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcaccaaatatgggaactCccaccatagggaccccatgg	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69796399C>T	ENST00000251566.4	-	5	1199	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	UGT2A3_ENST00000420231.2_Missense_Mutation_p.G101E	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	390						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TATGGGAACTCCCACCATAGG	0.403													False	0	True	4:69796399	0	T	69796399	C	T	69796399	3	4	88	1	0	0	0	0	1	0	0	0	17039	855	30	2	422	2	UGT2A3	4	69796399	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114183	69796399	121357877	5160	12872											
UGT2B4	7363	broad.mit.edu	37	chr4	70360997	70360997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttctgacataacaacagGcacataggaaggagggaaca	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:70360997G>A	ENST00000305107.6	-	1	629	c.583C>T	c.(583-585)Cct>Tct	p.P195S	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.P59S|UGT2B4_ENST00000512583.1_Missense_Mutation_p.P195S	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	195					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATAACAACAGGCACATAGGAA	0.388													False	0	False	4:70360997	0	A	70360997	G	A	70360997	3	1	88	1	0	0	0	0	1	0	0	0	17045	1203	42	2	1027	2	UGT2B4	4	70360997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	564598	70360997	120793279	5161	12873											
SULT1B1	27284	broad.mit.edu	37	chr4	70599155	70599155	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatatcttcatagtacaaAaaaagtattgggtgttcttc	6	6	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:70599155A>C	ENST00000310613.3	-	6	870	c.573T>G	c.(571-573)ttT>ttG	p.F191L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CATAGTACAAAAAAAGTATTG	0.343													False	0	True	4:70599155	0	C	70599155	A	C	70599155	3	2	88	1	0	0	0	0	1	0	0	0	15458	11	1	4	329	4	SULT1B1	4	70599155	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	238158	70599155	120555121	5162	12874											
C4orf40	401137	broad.mit.edu	37	chr4	71024115	71024115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggcatacggaatttaccacCtcctctttattatcgcccag	6	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024115C>A	ENST00000344526.5	+	3	335	c.146C>A	c.(145-147)cCt>cAt	p.P49H	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Missense_Mutation_p.P49H	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	49						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AATTTACCACCTCCTCTTTAT	0.438													False	0	False	4:71024115	0	A	71024115	C	A	71024115	3	1	88	1	0	0	0	0	1	0	0	0	2286	681	24	3	156	3	C4orf40	4	71024115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	424960	71024115	120130161	5163	12875											
C4orf40	401137	broad.mit.edu	37	chr4	71024336	71024336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttttttcagcagctgcaGcacccgctgccccacctatt	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024336G>A	ENST00000344526.5	+	3	556	c.367G>A	c.(367-369)Gca>Aca	p.A123T	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.A123T	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	123	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCAGCTGCAGCACCCGCTGC	0.577													False	0	False	4:71024336	0	A	71024336	G	A	71024336	3	1	88	1	0	0	0	0	1	0	0	0	2286	971	34	2	377	2	C4orf40	4	71024336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221	71024336	120129940	5164	12876											
C4orf40	401137	broad.mit.edu	37	chr4	71024410	71024410	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccacacctgtagcagctgaGcctgctgcaggggcccctgt	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024410G>T	ENST00000344526.5	+	3	630	c.441G>T	c.(439-441)gaG>gaT	p.E147D	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.E147D	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	147	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TAGCAGCTGAGCCTGCTGCAG	0.617													False	0	False	4:71024410	0	T	71024410	G	T	71024410	3	4	88	1	0	0	0	0	1	0	0	0	2286	962	34	3	451	3	C4orf40	4	71024410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74	71024410	120129866	5165	12877											
ODAM	54959	broad.mit.edu	37	chr4	71066290	71066290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttccaaggtcacctcaacAaacaagacagcaacagtatg	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71066290A>G	ENST00000396094.2	+	6	548	c.500A>G	c.(499-501)cAa>cGa	p.Q167R		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	167	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCACCTCAACAAACAAGACAG	0.373													False	0	True	4:71066290	0	G	71066290	A	G	71066290	3	3	88	1	0	0	0	0	1	0	0	0	10892	130	5	4	522	4	ODAM	4	71066290	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41880	71066290	120087986	5166	12878											
AMTN	401138	broad.mit.edu	37	chr4	71384505	71384505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctgaaacatgaggagtaCgattctactgttttgtcttc	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71384505C>T	ENST00000339336.4	+	2	141	c.11C>T	c.(10-12)aCg>aTg	p.T4M	AMTN_ENST00000504451.1_Missense_Mutation_p.T4M	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	4					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			ATGAGGAGTACGATTCTACTG	0.338													False	0	False	4:71384505	0	T	71384505	C	T	71384505	3	4	88	1	0	0	0	0	1	0	0	0	590	536	19	1	13	1	AMTN	4	71384505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	318215	71384505	119769771	5167	12879											
AMTN	401138	broad.mit.edu	37	chr4	71396761	71396761	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccctcattccagccacaAatcttcacgagcctcatcat	3	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71396761A>C	ENST00000339336.4	+	8	493	c.363A>C	c.(361-363)caA>caC	p.Q121H	AMTN_ENST00000504451.1_Missense_Mutation_p.Q120H	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	121					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TCCAGCCACAAATCTTCACGA	0.478													False	0	True	4:71396761	0	C	71396761	A	C	71396761	3	2	88	1	0	0	0	0	1	0	0	0	590	11	1	4	389	4	AMTN	4	71396761	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12256	71396761	119757515	5168	12880											
AMBN	258	broad.mit.edu	37	chr4	71472130	71472130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagaaaacccagctttccttAcagagctagaacctgctccc	6	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71472130A>G	ENST00000322937.6	+	13	1130	c.1027A>G	c.(1027-1029)Aca>Gca	p.T343A	AMBN_ENST00000449493.2_Missense_Mutation_p.T328A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	343					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AGCTTTCCTTACAGAGCTAGA	0.582													False	0	False	4:71472130	0	G	71472130	A	G	71472130	3	3	88	1	0	0	0	0	1	0	0	0	563	391	14	4	1077	4	AMBN	4	71472130	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75369	71472130	119682146	5169	12881											
ENAM	10117	broad.mit.edu	37	chr4	71508510	71508510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctacaaagaatccaaccaGcccctggagaaactctcaac	5	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71508510G>A	ENST00000396073.3	+	9	1648	c.1367G>A	c.(1366-1368)aGc>aAc	p.S456N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	456					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCCAACCAGCCCCTGGAGA	0.388													False	0	True	4:71508510	0	A	71508510	G	A	71508510	3	1	88	1	0	0	0	0	1	0	0	0	5144	971	34	2	1397	2	ENAM	4	71508510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36380	71508510	119645766	5170	12882											
ENAM	10117	broad.mit.edu	37	chr4	71510041	71510041	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaagaatcaactgggccaAaaggaaattatgccctttcc	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71510041A>C	ENST00000396073.3	+	9	3179	c.2898A>C	c.(2896-2898)caA>caC	p.Q966H	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	966					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AACTGGGCCAAAAGGAAATTA	0.433													False	0	True	4:71510041	0	C	71510041	A	C	71510041	3	2	88	1	0	0	0	0	1	0	0	0	5144	11	1	4	2928	4	ENAM	4	71510041	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1531	71510041	119644235	5171	12883											
ENAM	10117	broad.mit.edu	37	chr4	71510303	71510303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagaccatctaacattctgCatttgccatgctttggctcc	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71510303C>A	ENST00000396073.3	+	9	3441	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1054					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAACATTCTGCATTTGCCATG	0.458													False	0	False	4:71510303	0	A	71510303	C	A	71510303	3	1	88	1	0	0	0	0	1	0	0	0	5144	710	25	3	3190	3	ENAM	4	71510303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	71510303	119643973	5172	12884											
IGJ	3512	broad.mit.edu	37	chr4	71522187	71522187	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtagcactgtcttcatcacaGatattgctctgggtagcagt	10	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71522187G>T	ENST00000254801.4	-	4	508	c.339C>A	c.(337-339)atC>atA	p.I113I	IGJ_ENST00000543780.1_Silent_p.I129I|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	113					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			CTTCATCACAGATATTGCTCT	0.418													False	0	False	4:71522187	0	T	71522187	G	T	71522187	2	4	88	1	0	0	0	0	0	0	0	1	7642	932	33	3		3	IGJ	4	71522187	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11884	71522187	119632089	5173	12885											
UTP3	57050	broad.mit.edu	37	chr4	71555130	71555130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttaaggatgagctggagCcattgttagagttggtggaa	16	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71555130C>T	ENST00000254803.2	+	1	935	c.736C>T	c.(736-738)Cca>Tca	p.P246S		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	246					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGAGCTGGAGCCATTGTTAGA	0.438													False	0	False	4:71555130	0	T	71555130	C	T	71555130	3	4	88	1	0	0	0	0	1	0	0	0	17185	739	26	2	738	2	UTP3	4	71555130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32943	71555130	119599146	5174	12886											
RUFY3	22902	broad.mit.edu	37	chr4	71648856	71648856	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttacaagaagaaatggaaCgagttaaagaggaaagttcc	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71648856C>T	ENST00000226328.4	+	9	1506	c.943C>T	c.(943-945)Cga>Tga	p.R315*	RUFY3_ENST00000502653.1_Nonsense_Mutation_p.R262*|RUFY3_ENST00000536664.1_Nonsense_Mutation_p.R299*|RUFY3_ENST00000417478.2_Nonsense_Mutation_p.R375*|RUFY3_ENST00000381006.3_Nonsense_Mutation_p.R315*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	315					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGAAATGGAACGAGTTAAAGA	0.308													False	0	False	4:71648856	0	T	71648856	C	T	71648856	4	4	88	1	0	0	0	0	0	1	0	0	13819	528	19	1	1339	1	RUFY3	4	71648856	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93726	71648856	119505420	5175	12887											
RUFY3	22902	broad.mit.edu	37	chr4	71650581	71650581	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaagcatttaaaagaagaGacacaattacgattggtaaa	8	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71650581G>T	ENST00000226328.4	+	10	1619	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	RUFY3_ENST00000502653.1_Missense_Mutation_p.E299D|RUFY3_ENST00000536664.1_Missense_Mutation_p.E336D|RUFY3_ENST00000417478.2_Missense_Mutation_p.E412D|RUFY3_ENST00000381006.3_Missense_Mutation_p.E352D	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	352					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TAAAAGAAGAGACACAATTAC	0.338													False	0	False	4:71650581	0	T	71650581	G	T	71650581	3	4	88	1	0	0	0	0	1	0	0	0	13819	933	33	3	1456	3	RUFY3	4	71650581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1725	71650581	119503695	5176	12888											
GRSF1	2926	broad.mit.edu	37	chr4	71693715	71693715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tataagaaccgacatgtgttCgaacttcattccttctgctt	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71693715C>T	ENST00000254799.6	-	6	1106	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	GRSF1_ENST00000439371.1_Missense_Mutation_p.R168Q|GRSF1_ENST00000502323.1_Missense_Mutation_p.R168Q|GRSF1_ENST00000545193.1_Missense_Mutation_p.R212Q|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	330					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GACATGTGTTCGAACTTCATT	0.353													False	0	False	4:71693715	0	T	71693715	C	T	71693715	3	4	88	1	0	0	0	0	1	0	0	0	6856	884	31	1	469	1	GRSF1	4	71693715	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43134	71693715	119460561	5177	12889											
SLC4A4	8671	broad.mit.edu	37	chr4	72338763	72338764	+	Frame_Shift_Ins	INS	-	-	TTGAAAGCATCATAGAT													ctccatgcttgcaaattttcINSaacatgctgtcatggtcctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72338763_72338764insTTGAAAGCATCATAGAT	ENST00000512686.1	+	11	2043_2044	c.1847_1848insTTGAAAGCATCATAGAT	c.(1846-1851)tcaacafs	p.T617fs	SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000351898.6_Intron			Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGCAAATTTTCAACATGCTGTC	0.431													False	0	False	4:72338763	0	TTGAAAGCATCATAGAT	72338764	-	TTGAAAGCATCATAGAT	72338763	7	5	88	1	0	1	1	0	0	0	0	0	14736	841	29	0		0	SLC4A4	4	72338763	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	645048	72338763	118815513	5178	12890											
NPFFR2	10886	broad.mit.edu	37	chr4	72897828	72897828	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccggcagactgcgaaaagTagctggagccggagcaggga	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72897828T>C	ENST00000308744.6	+	1	308	c.210T>C	c.(208-210)agT>agC	p.S70S	NPFFR2_ENST00000344413.5_Silent_p.S70S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	70					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTGCGAAAAGTAGCTGGAGCC	0.667													False	0	False	4:72897828	0	C	72897828	T	C	72897828	2	2	88	1	0	0	0	0	0	0	0	1	10646	1635	57	4		4	NPFFR2	4	72897828	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	559065	72897828	118256448	5179	12891											
NPFFR2	10886	broad.mit.edu	37	chr4	72994599	72994599	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatttactagttggcatattCtgcatgcctataacactgct	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72994599C>A	ENST00000308744.6	+	2	695	c.597C>A	c.(595-597)ttC>ttA	p.F199L	NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000358749.3_Missense_Mutation_p.F97L|NPFFR2_ENST00000395999.1_Missense_Mutation_p.F100L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	199					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTGGCATATTCTGCATGCCTA	0.368													False	0	False	4:72994599	0	A	72994599	C	A	72994599	3	1	88	1	0	0	0	0	1	0	0	0	10646	912	32	3	609	3	NPFFR2	4	72994599	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96771	72994599	118159677	5180	12892											
ADAMTS3	9508	broad.mit.edu	37	chr4	73161482	73161482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatcacttttcctacggcatCcatatttagtgtactggaaa	6	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73161482C>A	ENST00000286657.4	-	19	2648	c.2612G>T	c.(2611-2613)gGa>gTa	p.G871V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	871	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTACGGCATCCATATTTAGT	0.363													False	0	False	4:73161482	0	A	73161482	C	A	73161482	3	1	88	1	0	0	0	0	1	0	0	0	267	855	30	3	1021	3	ADAMTS3	4	73161482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166883	73161482	117992794	5181	12893											
ADAMTS3	9508	broad.mit.edu	37	chr4	73175167	73175167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacggttcggcagtgggaaTtatctcctccacagacacca	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73175167T>C	ENST00000286657.4	-	15	2162	c.2126A>G	c.(2125-2127)aAt>aGt	p.N709S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	709	Cys-rich.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCAGTGGGAATTATCTCCTCC	0.433													False	0	False	4:73175167	0	C	73175167	T	C	73175167	3	2	88	1	0	0	0	0	1	0	0	0	267	1493	52	4	1523	4	ADAMTS3	4	73175167	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13685	73175167	117979109	5182	12894											
ADAMTS3	9508	broad.mit.edu	37	chr4	73181645	73181645	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaaaagtagggattatcaGgatggctacaccacagctgt	10	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73181645G>T	ENST00000286657.4	-	11	1565	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	510	Disintegrin.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGATTATCAGGATGGCTACA	0.403													False	0	False	4:73181645	0	T	73181645	G	T	73181645	3	4	88	1	0	0	0	0	1	0	0	0	267	1000	35	3	2136	3	ADAMTS3	4	73181645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6478	73181645	117972631	5183	12895											
ADAMTS3	9508	broad.mit.edu	37	chr4	73185142	73185142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagccatgacacttcccataGcagtctcatcaccacacctg	6	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73185142G>T	ENST00000286657.4	-	9	1295	c.1259C>A	c.(1258-1260)gCt>gAt	p.A420D		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	420	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTTCCCATAGCAGTCTCATC	0.488													False	0	False	4:73185142	0	T	73185142	G	T	73185142	3	4	88	1	0	0	0	0	1	0	0	0	267	971	34	3	2414	3	ADAMTS3	4	73185142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3497	73185142	117969134	5184	12896											
ADAMTS3	9508	broad.mit.edu	37	chr4	73188804	73188804	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagggactcatcatggtaaAtttcattcacctagcaacaa	7	10	4	0	rs61757480		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73188804A>C	ENST00000286657.4	-	6	908	c.872T>G	c.(871-873)aTt>aGt	p.I291S	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	291	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCATGGTAAATTTCATTCAC	0.358													False	0	True	4:73188804	0	C	73188804	A	C	73188804	3	2	88	1	0	0	0	0	1	0	0	0	267	101	4	4	2813	4	ADAMTS3	4	73188804	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3662	73188804	117965472	5185	12897											
ADAMTS3	9508	broad.mit.edu	37	chr4	73205355	73205355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgtttcattcagctgCtggtggatgttgccataaac	9	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73205355C>T	ENST00000286657.4	-	5	753	c.717G>A	c.(715-717)caG>caA	p.Q239Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	239					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATTCAGCTGCTGGTGGATGT	0.478													False	0	False	4:73205355	0	T	73205355	C	T	73205355	2	4	88	1	0	0	0	0	0	0	0	1	267	796	28	2		2	ADAMTS3	4	73205355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16551	73205355	117948921	5186	12898											
ADAMTS3	9508	broad.mit.edu	37	chr4	73280626	73280626	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcctttttcttcctccatCtgtttacctctttccaaggg	4	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73280626C>T	ENST00000286657.4	-	4	603	c.567G>A	c.(565-567)caG>caA	p.Q189Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	189					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCCTCCATCTGTTTACCTC	0.378													False	0	False	4:73280626	0	T	73280626	C	T	73280626	2	4	88	1	0	0	0	0	0	0	0	1	267	912	32	2		2	ADAMTS3	4	73280626	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75271	73280626	117873650	5187	12899											
ADAMTS3	9508	broad.mit.edu	37	chr4	73414462	73414462	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgatgttaaagaacaaCtgctcagggttggaagacac	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73414462C>T	ENST00000286657.4	-	3	273	c.237G>A	c.(235-237)caG>caA	p.Q79Q	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	79					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAAAGAACAACTGCTCAGGGT	0.483													False	0	False	4:73414462	0	T	73414462	C	T	73414462	2	4	88	1	0	0	0	0	0	0	0	1	267	564	20	2		2	ADAMTS3	4	73414462	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133836	73414462	117739814	5188	12900											
ANKRD17	26057	broad.mit.edu	37	chr4	73944497	73944497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcagtcccaatagggactgGaactttcctgtcctgagaca	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73944497G>T	ENST00000358602.4	-	31	7386	c.7270C>A	c.(7270-7272)Cca>Aca	p.P2424T	ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2311T|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P2173T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2424					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATAGGGACTGGAACTTTCCTG	0.498													False	0	False	4:73944497	0	T	73944497	G	T	73944497	3	4	88	1	0	0	0	0	1	0	0	0	646	1174	41	3	557	3	ANKRD17	4	73944497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	530035	73944497	117209779	5189	12901											
ANKRD17	26057	broad.mit.edu	37	chr4	73957906	73957906	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccctattttggaatttgcTgaggagcttttcaaacgatt	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73957906T>G	ENST00000358602.4	-	29	5555	c.5439A>C	c.(5437-5439)tcA>tcC	p.S1813S	ANKRD17_ENST00000509867.2_Silent_p.S1700S|ANKRD17_ENST00000330838.6_Silent_p.S1562S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1813					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGAATTTGCTGAGGAGCTTT	0.378													False	0	False	4:73957906	0	G	73957906	T	G	73957906	2	3	88	1	0	0	0	0	0	0	0	1	646	1567	55	4		4	ANKRD17	4	73957906	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13409	73957906	117196370	5190	12902											
ANKRD17	26057	broad.mit.edu	37	chr4	73964157	73964157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttaccatgagaacctgCcaaagttgtccaggttgcag	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73964157C>T	ENST00000358602.4	-	26	4770	c.4654G>A	c.(4654-4656)Gca>Aca	p.A1552T	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1439T|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1301T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1552					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAGAACCTGCCAAAGTTGTC	0.368													False	0	False	4:73964157	0	T	73964157	C	T	73964157	3	4	88	1	0	0	0	0	1	0	0	0	646	739	26	2	3193	2	ANKRD17	4	73964157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6251	73964157	117190119	5191	12903											
ANKRD17	26057	broad.mit.edu	37	chr4	73986015	73986015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactcggcccacctccgcatAtccaccagaggcagcttcca	7	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73986015A>G	ENST00000358602.4	-	21	4005	c.3889T>C	c.(3889-3891)Tat>Cat	p.Y1297H	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Y1184H|ANKRD17_ENST00000330838.6_Missense_Mutation_p.Y1046H	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1297					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCTCCGCATATCCACCAGAG	0.428													False	0	False	4:73986015	0	G	73986015	A	G	73986015	3	3	88	1	0	0	0	0	1	0	0	0	646	449	16	4	3978	4	ANKRD17	4	73986015	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21858	73986015	117168261	5192	12904											
ANKRD17	26057	broad.mit.edu	37	chr4	73990976	73990976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtgtttgtaccagttcCtcgtggccaccagcacaggc	11	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73990976C>T	ENST00000358602.4	-	17	3404	c.3288G>A	c.(3286-3288)gaG>gaA	p.E1096E	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.E983E|ANKRD17_ENST00000330838.6_Silent_p.E845E	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1096					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACCAGTTCCTCGTGGCCAC	0.388													False	0	False	4:73990976	0	T	73990976	C	T	73990976	2	4	88	1	0	0	0	0	0	0	0	1	646	680	24	2		2	ANKRD17	4	73990976	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4961	73990976	117163300	5193	12905											
ANKRD17	26057	broad.mit.edu	37	chr4	74124155	74124155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggggtcggcaagtccgGttacgcttggccttgtggtg	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74124155G>A	ENST00000358602.4	-	1	347	c.231C>T	c.(229-231)aaC>aaT	p.N77N	ANKRD17_ENST00000330838.6_Silent_p.N77N	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	77					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGCAAGTCCGGTTACGCTTGG	0.697													False	0	False	4:74124155	0	A	74124155	G	A	74124155	2	1	88	1	0	0	0	0	0	0	0	1	646	1252	44	2		2	ANKRD17	4	74124155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133179	74124155	117030121	5194	12906											
ANKRD17	26057	broad.mit.edu	37	chr4	74124188	74124188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggtgctgctgctgcggCggcttcttcttcaggagcag	15	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74124188C>T	ENST00000358602.4	-	1	314	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ANKRD17_ENST00000330838.6_Silent_p.P66P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	66					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTGCTGCGGCGGCTTCTTCT	0.687													False	0	False	4:74124188	0	T	74124188	C	T	74124188	2	4	88	1	0	0	0	0	0	0	0	1	646	755	27	1		1	ANKRD17	4	74124188	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	74124188	117030088	5195	12907											
AFP	174	broad.mit.edu	37	chr4	74310810	74310810	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacatgagcactgttgcagaGgagatgtgctggattgtctg	14	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74310810G>T	ENST00000395792.2	+	7	914	c.814G>T	c.(814-816)Gga>Tga	p.G272*	AFP_ENST00000226359.2_Nonsense_Mutation_p.G272*	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	272	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGTTGCAGAGGAGATGTGCT	0.393									Alpha-Fetoprotein, Hereditary Persistence of				False	0	False	4:74310810	0	T	74310810	G	T	74310810	4	4	88	1	0	0	0	0	0	1	0	0	363	1001	35	3	840	3	AFP	4	74310810	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186622	74310810	116843466	5196	12908											
AFP	174	broad.mit.edu	37	chr4	74313256	74313256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatgctgcaaactgaccacGctggaacgtggtcaatgtat	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74313256G>A	ENST00000395792.2	+	8	1021	c.921G>A	c.(919-921)acG>acA	p.T307T	AFP_ENST00000226359.2_Silent_p.T307T	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	307	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACTGACCACGCTGGAACGTG	0.353									Alpha-Fetoprotein, Hereditary Persistence of				False	0	False	4:74313256	0	A	74313256	G	A	74313256	2	1	88	1	0	0	0	0	0	0	0	1	363	1074	38	1		1	AFP	4	74313256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2446	74313256	116841020	5197	12909											
AFM	173	broad.mit.edu	37	chr4	74357693	74357693	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggccagtgcataattaaCtcaaacaaagatgatagacc	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74357693C>T	ENST00000226355.3	+	8	1041	c.948C>T	c.(946-948)aaC>aaT	p.N316N		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	316	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCATAATTAACTCAAACAAAG	0.378													False	0	False	4:74357693	0	T	74357693	C	T	74357693	2	4	88	1	0	0	0	0	0	0	0	1	361	564	20	2		2	AFM	4	74357693	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44437	74357693	116796583	5198	12910											
RASSF6	166824	broad.mit.edu	37	chr4	74442353	74442353	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgctaatttcttctgcatCtttatccatgaggaaaatgc	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74442353C>A	ENST00000307439.5	-	9	1111	c.817G>T	c.(817-819)Gat>Tat	p.D273Y	RASSF6_ENST00000342081.3_Missense_Mutation_p.D305Y|RASSF6_ENST00000335049.5_Missense_Mutation_p.D261Y|RASSF6_ENST00000395777.2_Missense_Mutation_p.D239Y	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	305	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCTTCTGCATCTTTATCCATG	0.433													False	0	True	4:74442353	0	A	74442353	C	A	74442353	3	1	88	1	0	0	0	0	1	0	0	0	13169	913	32	3	208	3	RASSF6	4	74442353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84660	74442353	116711923	5199	12911											
RASSF6	166824	broad.mit.edu	37	chr4	74447568	74447568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataatgtgaagagcaaaatcCtggggactattttcaatctg	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74447568C>A	ENST00000307439.5	-	8	981	c.687G>T	c.(685-687)caG>caT	p.Q229H	RASSF6_ENST00000342081.3_Missense_Mutation_p.Q261H|RASSF6_ENST00000335049.5_Missense_Mutation_p.Q217H|RASSF6_ENST00000395777.2_Missense_Mutation_p.Q195H	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	261	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAGCAAAATCCTGGGGACTAT	0.383													False	0	False	4:74447568	0	A	74447568	C	A	74447568	3	1	88	1	0	0	0	0	1	0	0	0	13169	680	24	3	342	3	RASSF6	4	74447568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5215	74447568	116706708	5200	12912											
PF4	5196	broad.mit.edu	37	chr4	74846978	74846978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggggcttgcaggtccaaGcaaattttccttccattctt	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74846978G>A	ENST00000296029.3	-	3	419	c.249C>T	c.(247-249)tgC>tgT	p.C83C		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	83					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	GCAGGTCCAAGCAAATTTTCC	0.448													False	0	False	4:74846978	0	A	74846978	G	A	74846978	2	1	88	1	0	0	0	0	0	0	0	1	11821	963	34	2		2	PF4	4	74846978	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	399410	74846978	116307298	5201	12913											
MTHFD2L	441024	broad.mit.edu	37	chr4	75147231	75147231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtccacgatccagtgacaGgaaagacaaaattagttgga	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75147231G>A	ENST00000395759.2	+	7	922	c.895G>A	c.(895-897)Gga>Aga	p.G299R	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.G241R	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	241					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TCCAGTGACAGGAAAGACAAA	0.348													False	0	False	4:75147231	0	A	75147231	G	A	75147231	3	1	88	1	0	0	0	0	1	0	0	0	9997	1001	35	2	921	2	MTHFD2L	4	75147231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300253	75147231	116007045	5202	12914											
PARM1	25849	broad.mit.edu	37	chr4	75959104	75959104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcacaggcagcatcgccGccattaccgtgacagtcatt	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75959104G>A	ENST00000307428.7	+	3	993	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	PARM1_ENST00000513238.1_Missense_Mutation_p.A19T|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	261					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CAGCATCGCCGCCATTACCGT	0.502													False	0	False	4:75959104	0	A	75959104	G	A	75959104	3	1	88	1	0	0	0	0	1	0	0	0	11520	1087	38	1	791	1	PARM1	4	75959104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	811873	75959104	115195172	5203	12915											
PARM1	25849	broad.mit.edu	37	chr4	75971390	75971390	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggcattcctcctatggaaGacttttggacgaccatgact	9	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75971390G>A	ENST00000307428.7	+	4	1078	c.866G>A	c.(865-867)aGa>aAa	p.R289K	PARM1_ENST00000513238.1_Missense_Mutation_p.R47K	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	289					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCCTATGGAAGACTTTTGGAC	0.493													False	0	False	4:75971390	0	A	75971390	G	A	75971390	3	1	88	1	0	0	0	0	1	0	0	0	11520	942	33	2	880	2	PARM1	4	75971390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12286	75971390	115182886	5204	12916											
CDKL2	8999	broad.mit.edu	37	chr4	76523300	76523300	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttcaactaaggaatcAtctttttctttttccttctt	2	10	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76523300A>G	ENST00000429927.2	-	8	1684	c.981T>C	c.(979-981)gaT>gaC	p.D327D	CDKL2_ENST00000307465.4_Silent_p.D327D	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	327					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTAAGGAATCATCTTTTTCTT	0.274													False	0	False	4:76523300	0	G	76523300	A	G	76523300	2	3	88	1	0	0	0	0	0	0	0	1	3177	214	8	4		4	CDKL2	4	76523300	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	551910	76523300	114630976	5205	12917											
G3BP2	9908	broad.mit.edu	37	chr4	76582860	76582860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcatgagcatccacatgacGaattttagtatgacattcac	7	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76582860G>A	ENST00000359707.4	-	4	1017	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	G3BP2_ENST00000395719.3_Missense_Mutation_p.R78C|G3BP2_ENST00000357854.3_Missense_Mutation_p.R78C|G3BP2_ENST00000502654.1_5'UTR	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	78	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	p.R78C(2)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCCACATGACGAATTTTAGTA	0.393													False	0	False	4:76582860	0	A	76582860	G	A	76582860	3	1	88	1	0	0	0	0	1	0	0	0	6184	1058	37	1	1252	1	G3BP2	4	76582860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59560	76582860	114571416	5206	12918											
USO1	8615	broad.mit.edu	37	chr4	76692258	76692258	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tttcaagattgatggacttaCtagcggattccagggaagtt	11	6	1	2	rs146437956	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76692258C>G	ENST00000538159.1	+	7	529	c.529C>G	c.(529-531)Cta>Gta	p.L177V	USO1_ENST00000514213.2_Missense_Mutation_p.L160V			O60763	USO1_HUMAN	USO1 vesicle transport factor	175	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATGGACTTACTAGCGGATTC	0.308													False	0	False	4:76692258	0	G	76692258	C	G	76692258	3	3	88	1	0	0	0	0	1	0	0	0	17123	564	20	5	390	5	USO1	4	76692258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109398	76692258	114462018	5207	12919											
USO1	8615	broad.mit.edu	37	chr4	76715005	76715005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacttgctacaagtattgGcaaccctccagtttctttac	5	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76715005G>A	ENST00000538159.1	+	13	1409	c.1409G>A	c.(1408-1410)gGc>gAc	p.G470D	USO1_ENST00000514213.2_Missense_Mutation_p.G453D			O60763	USO1_HUMAN	USO1 vesicle transport factor	468	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACAAGTATTGGCAACCCTCCA	0.423													False	0	False	4:76715005	0	A	76715005	G	A	76715005	3	1	88	1	0	0	0	0	1	0	0	0	17123	1203	42	2	1294	2	USO1	4	76715005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22747	76715005	114439271	5208	12920											
USO1	8615	broad.mit.edu	37	chr4	76733463	76733463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaagatgatctcttggtgCtcttggccgatcaagatcag	10	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76733463C>A	ENST00000538159.1	+	24	2761	c.2761C>A	c.(2761-2763)Ctc>Atc	p.L921I	USO1_ENST00000514213.2_Missense_Mutation_p.L897I			O60763	USO1_HUMAN	USO1 vesicle transport factor	912					intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTCTTGGTGCTCTTGGCCGA	0.333													False	0	False	4:76733463	0	A	76733463	C	A	76733463	3	1	88	1	0	0	0	0	1	0	0	0	17123	797	28	3	2665	3	USO1	4	76733463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18458	76733463	114420813	5209	12921											
PPEF2	5470	broad.mit.edu	37	chr4	76794284	76794284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagggagcacccaccttgCggttgtgacagaattcatag	12	10	1	3	rs143649959		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76794284C>T	ENST00000286719.7	-	12	1858	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	501	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACCCACCTTGCGGTTGTGACA	0.488													False	0	False	4:76794284	0	T	76794284	C	T	76794284	3	4	88	1	0	0	0	0	1	0	0	0	12377	768	27	1	783	1	PPEF2	4	76794284	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60821	76794284	114359992	5210	12922											
PPEF2	5470	broad.mit.edu	37	chr4	76811174	76811174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagtgggaaggagaggCgtggccccgtgtaactgtcg	19	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76811174C>T	ENST00000286719.7	-	5	709	c.353G>A	c.(352-354)cGc>cAc	p.R118H		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	118				R -> S (in Ref. 1; AAB82796/AAB82797).	detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAGGAGAGGCGTGGCCCCGT	0.532													False	0	False	4:76811174	0	T	76811174	C	T	76811174	3	4	88	1	0	0	0	0	1	0	0	0	12377	768	27	1	1960	1	PPEF2	4	76811174	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16890	76811174	114343102	5211	12923											
SDAD1	55153	broad.mit.edu	37	chr4	76895229	76895229	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccctataggtgctcacCttggtgaccttagagaaaca	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76895229C>T	ENST00000356260.5	-	7	754	c.636G>A	c.(634-636)aaG>aaA	p.K212K	SDAD1_ENST00000395711.4_Splice_Site_p.K175K	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	212					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGTGCTCACCTTGGTGACCT	0.428													False	0	False	4:76895229	0	T	76895229	C	T	76895229	5	4	88	1	0	0	0	0	0	0	1	0	14031	695	24	2	1491	2	SDAD1	4	76895229	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84055	76895229	114259047	5212	12924											
NUP54	53371	broad.mit.edu	37	chr4	77036596	77036596	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttatatcttctagatcgtCtttaatgatgctaatcaaat	4	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77036596C>T	ENST00000264883.3	-	12	1587	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	NUP54_ENST00000342467.6_Missense_Mutation_p.D267N|NUP54_ENST00000458189.2_Missense_Mutation_p.D303N|NUP54_ENST00000514987.1_Missense_Mutation_p.D435N	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	483					carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCTAGATCGTCTTTAATGATG	0.338													False	0	True	4:77036596	0	T	77036596	C	T	77036596	3	4	88	1	0	0	0	0	1	0	0	0	10835	913	32	2	80	2	NUP54	4	77036596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141367	77036596	114117680	5213	12925											
SCARB2	950	broad.mit.edu	37	chr4	77084388	77084388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagttctcacctcatccatgGatccctgtcctttgcatgca	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77084388G>A	ENST00000264896.2	-	11	1737	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	SCARB2_ENST00000452464.2_Missense_Mutation_p.S320F	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	463					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CTCATCCATGGATCCCTGTCC	0.458													False	0	False	4:77084388	0	A	77084388	G	A	77084388	3	1	88	1	0	0	0	0	1	0	0	0	13962	1174	41	2	56	2	SCARB2	4	77084388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47792	77084388	114069888	5214	12926											
CCDC158	339965	broad.mit.edu	37	chr4	77234349	77234349	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagtaacattttttcctggtCttttactttctgtatcctct	4	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77234349C>A	ENST00000388914.3	-	24	3468	c.3316G>T	c.(3316-3318)Gac>Tac	p.D1106Y		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1106								p.D1106N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTTTCCTGGTCTTTTACTTTC	0.338													False	0	True	4:77234349	0	A	77234349	C	A	77234349	3	1	88	1	0	0	0	0	1	0	0	0	2811	913	32	3	29	3	CCDC158	4	77234349	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149961	77234349	113919927	5215	12927											
CCDC158	339965	broad.mit.edu	37	chr4	77288498	77288498	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaatttctttctccagttgAgctttttctacttgcatagc	5	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77288498A>G	ENST00000388914.3	-	11	1931	c.1779T>C	c.(1777-1779)gcT>gcC	p.A593A		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	593										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCTCCAGTTGAGCTTTTTCTA	0.413													False	0	False	4:77288498	0	G	77288498	A	G	77288498	2	3	88	1	0	0	0	0	0	0	0	1	2811	291	11	4		4	CCDC158	4	77288498	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	54149	77288498	113865778	5216	12928											
CCDC158	339965	broad.mit.edu	37	chr4	77304873	77304873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgattcagatttcagtgCttcaagttgatcctctacct	7	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77304873C>A	ENST00000388914.3	-	6	897	c.745G>T	c.(745-747)Gca>Tca	p.A249S	CCDC158_ENST00000434846.2_Missense_Mutation_p.A249S	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	249										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GATTTCAGTGCTTCAAGTTGA	0.363													False	0	False	4:77304873	0	A	77304873	C	A	77304873	3	1	88	1	0	0	0	0	1	0	0	0	2811	797	28	3	2672	3	CCDC158	4	77304873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16375	77304873	113849403	5217	12929											
CCDC158	339965	broad.mit.edu	37	chr4	77305391	77305391	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcttcaaagtcaactagGattgaccggatttcttgaag	9	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77305391G>A	ENST00000388914.3	-	5	728	c.576C>T	c.(574-576)atC>atT	p.I192I	CCDC158_ENST00000434846.2_Silent_p.I192I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	192										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTCAACTAGGATTGACCGGA	0.428													False	0	False	4:77305391	0	A	77305391	G	A	77305391	2	1	88	1	0	0	0	0	0	0	0	1	2811	1164	41	2		2	CCDC158	4	77305391	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	518	77305391	113848885	5218	12930											
SHROOM3	57619	broad.mit.edu	37	chr4	77631357	77631357	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatactggtgcctctaacttCgtcagcccagaacacctcac	7	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77631357C>T	ENST00000296043.6	+	3	1325	c.372C>T	c.(370-372)ttC>ttT	p.F124F	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	124					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCTCTAACTTCGTCAGCCCAG	0.537													False	0	False	4:77631357	0	T	77631357	C	T	77631357	2	4	88	1	0	0	0	0	0	0	0	1	14376	883	31	1		1	SHROOM3	4	77631357	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325966	77631357	113522919	5219	12931											
SHROOM3	57619	broad.mit.edu	37	chr4	77660200	77660200	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatggacaatacttctgctCgaggtggcctcctcgaaggg	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77660200C>T	ENST00000296043.6	+	5	1827	c.874C>T	c.(874-876)Cga>Tga	p.R292*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	292					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TACTTCTGCTCGAGGTGGCCT	0.547													False	0	False	4:77660200	0	T	77660200	C	T	77660200	4	4	88	1	0	0	0	0	0	1	0	0	14376	876	31	1	892	1	SHROOM3	4	77660200	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28843	77660200	113494076	5220	12932											
SHROOM3	57619	broad.mit.edu	37	chr4	77661164	77661164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggctcaggcctggcaagCgggtgaagacaagagatctt	14	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77661164C>T	ENST00000296043.6	+	5	2791	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	613					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCTGGCAAGCGGGTGAAGAC	0.562													False	0	True	4:77661164	0	T	77661164	C	T	77661164	3	4	88	1	0	0	0	0	1	0	0	0	14376	768	27	1	1856	1	SHROOM3	4	77661164	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	964	77661164	113493112	5221	12933											
SHROOM3	57619	broad.mit.edu	37	chr4	77661560	77661560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacccaagtcccgaagagcCgcctgccccctcgcacccgc	9	21	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77661560C>T	ENST00000296043.6	+	5	3187	c.2234C>T	c.(2233-2235)cCg>cTg	p.P745L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	745					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCGAAGAGCCGCCTGCCCCC	0.697													False	0	False	4:77661560	0	T	77661560	C	T	77661560	3	4	88	1	0	0	0	0	1	0	0	0	14376	652	23	1	2252	1	SHROOM3	4	77661560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396	77661560	113492716	5222	12934											
SHROOM3	57619	broad.mit.edu	37	chr4	77675851	77675851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccaagaggctgtgagggCgatggcccagagcatggggt	19	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77675851C>T	ENST00000296043.6	+	7	5168	c.4215C>T	c.(4213-4215)ggC>ggT	p.G1405G		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1405					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCTGTGAGGGCGATGGCCCAG	0.637													False	0	True	4:77675851	0	T	77675851	C	T	77675851	2	4	88	1	0	0	0	0	0	0	0	1	14376	755	27	1		1	SHROOM3	4	77675851	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14291	77675851	113478425	5223	12935											
SHROOM3	57619	broad.mit.edu	37	chr4	77675938	77675938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctcgagcaaagtgggcCcacgcagccagagaggacag	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77675938C>T	ENST00000296043.6	+	7	5255	c.4302C>T	c.(4300-4302)gcC>gcT	p.A1434A		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1434					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAAAGTGGGCCCACGCAGCCA	0.562													False	0	True	4:77675938	0	T	77675938	C	T	77675938	2	4	88	1	0	0	0	0	0	0	0	1	14376	610	22	2		2	SHROOM3	4	77675938	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	77675938	113478338	5224	12936											
CCNI	10983	broad.mit.edu	37	chr4	77976531	77976531	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgacactgcaatggcatgGaactgaaaatcacaagaaca	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77976531G>A	ENST00000237654.4	-	6	1038	c.462C>T	c.(460-462)ttC>ttT	p.F154F	CCNI_ENST00000537948.1_Silent_p.F140F	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	154					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						CAATGGCATGGAACTGAAAAT	0.333													False	0	False	4:77976531	0	A	77976531	G	A	77976531	2	1	88	1	0	0	0	0	0	0	0	1	2949	1165	41	2		2	CCNI	4	77976531	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300593	77976531	113177745	5225	12937											
CCNG2	901	broad.mit.edu	37	chr4	78082647	78082647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtataggaaagaaatactgaGccttgataaactagaagctc	9	6	0	4	rs34067647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78082647G>A	ENST00000316355.5	+	5	898	c.542G>A	c.(541-543)aGc>aAc	p.S181N	CCNG2_ENST00000354403.5_Missense_Mutation_p.S181N|CCNG2_ENST00000395640.1_Missense_Mutation_p.S181N|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Missense_Mutation_p.S181N|CCNG2_ENST00000509972.1_Missense_Mutation_p.S181N	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	181					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GAAATACTGAGCCTTGATAAA	0.333													False	0	False	4:78082647	0	A	78082647	G	A	78082647	3	1	88	1	0	0	0	0	1	0	0	0	2947	971	34	2	556	2	CCNG2	4	78082647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106116	78082647	113071629	5226	12938											
CCNG2	901	broad.mit.edu	37	chr4	78086953	78086953	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtctctttttctctttaGtgaggactcttgtgaagata	8	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78086953G>A	ENST00000316355.5	+	8	1267		c.e8-1		CCNG2_ENST00000354403.5_Intron|CCNG2_ENST00000395640.1_Splice_Site|CCNG2_ENST00000497512.1_Intron|CCNG2_ENST00000502280.1_Splice_Site	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2						cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTCTCTTTAGTGAGGACTCT	0.378													False	0	False	4:78086953	0	A	78086953	G	A	78086953	5	1	88	1	0	0	0	0	0	0	1	0	2947	1043	36	2	937	2	CCNG2	4	78086953	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4306	78086953	113067323	5227	12939											
CNOT6L	246175	broad.mit.edu	37	chr4	78650044	78650044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaagatctgcacatagcaCcagcgggatggaattaggat	12	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650044C>T	ENST00000504123.1	-	10	1346	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	CNOT6L_ENST00000264903.4_Missense_Mutation_p.V406M			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	406					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GCACATAGCACCAGCGGGATG	0.428													False	0	False	4:78650044	0	T	78650044	C	T	78650044	3	4	88	1	0	0	0	0	1	0	0	0	3646	507	18	2	463	2	CNOT6L	4	78650044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	563091	78650044	112504232	5228	12940											
CNOT6L	246175	broad.mit.edu	37	chr4	78650176	78650176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatactctgggtcccaatGcatgtgggcatttgccacta	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650176G>A	ENST00000504123.1	-	10	1214	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	CNOT6L_ENST00000264903.4_Missense_Mutation_p.H362Y			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	362					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GGGTCCCAATGCATGTGGGCA	0.408													False	0	False	4:78650176	0	A	78650176	G	A	78650176	3	1	88	1	0	0	0	0	1	0	0	0	3646	1319	46	2	595	2	CNOT6L	4	78650176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132	78650176	112504100	5229	12941											
CNOT6L	246175	broad.mit.edu	37	chr4	78650217	78650217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcagctgtttgtctgcaGcatgaataggcttcatacct	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650217G>A	ENST00000504123.1	-	10	1173	c.1043C>T	c.(1042-1044)gCt>gTt	p.A348V	CNOT6L_ENST00000264903.4_Missense_Mutation_p.A348V			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	348					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TTTGTCTGCAGCATGAATAGG	0.393													False	0	False	4:78650217	0	A	78650217	G	A	78650217	3	1	88	1	0	0	0	0	1	0	0	0	3646	971	34	2	636	2	CNOT6L	4	78650217	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41	78650217	112504059	5230	12942											
CNOT6L	246175	broad.mit.edu	37	chr4	78695823	78695823	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcatttaggtgcagcgctgTcaagtgtgtcaatgaccaaa	11	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78695823T>G	ENST00000504123.1	-	3	305	c.175A>C	c.(175-177)Aca>Cca	p.T59P	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.T59P			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	59					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGCAGCGCTGTCAAGTGTGTC	0.428													False	0	False	4:78695823	0	G	78695823	T	G	78695823	3	3	88	1	0	0	0	0	1	0	0	0	3646	1667	58	4	1532	4	CNOT6L	4	78695823	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	45606	78695823	112458453	5231	12943											
MRPL1	65008	broad.mit.edu	37	chr4	78808417	78808417	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaaaatggagctgcatTtgcaggaggcactagtctga	14	6	1	2	rs17855456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78808417T>C	ENST00000315567.8	+	5	859	c.530T>C	c.(529-531)tTt>tCt	p.F177S	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	177			F -> S (in dbSNP:rs17855456).				RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GGAGCTGCATTTGCAGGAGGC	0.328													False	0	True	4:78808417	0	C	78808417	T	C	78808417	3	2	88	1	0	0	0	0	1	0	0	0	9841	1841	64	4	548	4	MRPL1	4	78808417	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	112594	78808417	112345859	5232	12944											
FRAS1	80144	broad.mit.edu	37	chr4	79343150	79343150	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagctcatggccttctcgttCgctggtaatgctctcctctc	9	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79343150C>T	ENST00000264895.6	+	34	5114	c.4674C>T	c.(4672-4674)ttC>ttT	p.F1558F	FRAS1_ENST00000325942.6_Silent_p.F1558F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1557					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTTCTCGTTCGCTGGTAATG	0.567													False	0	False	4:79343150	0	T	79343150	C	T	79343150	2	4	88	1	0	0	0	0	0	0	0	1	6084	883	31	1		1	FRAS1	4	79343150	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534733	79343150	111811126	5233	12945											
FRAS1	80144	broad.mit.edu	37	chr4	79367898	79367898	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaagaacgatgagccTcccaggatgaccttgcagcc	12	12	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79367898T>C	ENST00000264895.6	+	43	6314	c.5874T>C	c.(5872-5874)ccT>ccC	p.P1958P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1957					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACGATGAGCCTCCCAGGATGA	0.443													False	0	True	4:79367898	0	C	79367898	T	C	79367898	2	2	88	1	0	0	0	0	0	0	0	1	6084	1538	54	4		4	FRAS1	4	79367898	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24748	79367898	111786378	5234	12946											
FRAS1	80144	broad.mit.edu	37	chr4	79403572	79403572	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgactatcttggatgacactCagtatccggtaattgaagga	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79403572C>T	ENST00000264895.6	+	58	9075	c.8635C>T	c.(8635-8637)Cag>Tag	p.Q2879*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2874	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGATGACACTCAGTATCCGGT	0.458													False	0	False	4:79403572	0	T	79403572	C	T	79403572	4	4	88	1	0	0	0	0	0	1	0	0	6084	827	29	2	8940	2	FRAS1	4	79403572	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35674	79403572	111750704	5235	12947											
FRAS1	80144	broad.mit.edu	37	chr4	79421054	79421054	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggattattacccaaagagcCgagtcttgaagttcagtccc	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79421054C>T	ENST00000264895.6	+	61	9735	c.9295C>T	c.(9295-9297)Cga>Tga	p.R3099*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3094	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCAAAGAGCCGAGTCTTGAA	0.483													False	0	False	4:79421054	0	T	79421054	C	T	79421054	4	4	88	1	0	0	0	0	0	1	0	0	6084	644	23	1	9612	1	FRAS1	4	79421054	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17482	79421054	111733222	5236	12948											
FRAS1	80144	broad.mit.edu	37	chr4	79428591	79428591	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtggatcatatcttTtttaaagttgagatcctgtc	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79428591T>G	ENST00000264895.6	+	62	9773	c.9333T>G	c.(9331-9333)ttT>ttG	p.F3111L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3106	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCATATCTTTTTTAAAGTTG	0.473													False	0	True	4:79428591	0	G	79428591	T	G	79428591	3	3	88	1	0	0	0	0	1	0	0	0	6084	1838	64	4	9654	4	FRAS1	4	79428591	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7537	79428591	111725685	5237	12949											
FRAS1	80144	broad.mit.edu	37	chr4	79461814	79461814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagggacctggtagagcccGatggccagctgatccttgat	14	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79461814G>A	ENST00000264895.6	+	74	12015	c.11575G>A	c.(11575-11577)Gat>Aat	p.D3859N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3854					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGTAGAGCCCGATGGCCAGCT	0.537													False	0	True	4:79461814	0	A	79461814	G	A	79461814	3	1	88	1	0	0	0	0	1	0	0	0	6084	1058	37	1	11944	1	FRAS1	4	79461814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33223	79461814	111692462	5238	12950											
BMP2K	55589	broad.mit.edu	37	chr4	79832926	79832926	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcggtgccaagcccttccaTtctccagacctgtcatggca	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79832926T>A	ENST00000335016.5	+	16	3391	c.3225T>A	c.(3223-3225)caT>caA	p.H1075Q	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1075						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGCCCTTCCATTCTCCAGACC	0.537													False	0	False	4:79832926	0	A	79832926	T	A	79832926	3	1	88	1	0	0	0	0	1	0	0	0	1465	1490	52	5	3325	5	BMP2K	4	79832926	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	371112	79832926	111321350	5239	12951											
GK2	2712	broad.mit.edu	37	chr4	80328744	80328744	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatattaaaaagcattgtcCtacttgcatttgttacatct	6	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80328744C>A	ENST00000358842.3	-	1	628	c.611G>T	c.(610-612)aGg>aTg	p.R204M		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	204					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAGCATTGTCCTACTTGCATT	0.388													False	0	False	4:80328744	0	A	80328744	C	A	80328744	3	1	88	1	0	0	0	0	1	0	0	0	6466	681	24	3	1054	3	GK2	4	80328744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	495818	80328744	110825532	5240	12952											
GK2	2712	broad.mit.edu	37	chr4	80328787	80328787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatgcacgcctccattaaCtcctcctgtcaaactccaga	4	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80328787C>T	ENST00000358842.3	-	1	585	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	190					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCTCCATTAACTCCTCCTGTC	0.398													False	0	False	4:80328787	0	T	80328787	C	T	80328787	3	4	88	1	0	0	0	0	1	0	0	0	6466	565	20	2	1097	2	GK2	4	80328787	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43	80328787	110825489	5241	12953											
GK2	2712	broad.mit.edu	37	chr4	80329323	80329323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccaccgctcccaccaacGgccccacagctgctgtcttt	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80329323G>A	ENST00000358842.3	-	1	49	c.32C>T	c.(31-33)cCg>cTg	p.P11L		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	11					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TCCCACCAACGGCCCCACAGC	0.572													False	0	False	4:80329323	0	A	80329323	G	A	80329323	3	1	88	1	0	0	0	0	1	0	0	0	6466	1116	39	1	1633	1	GK2	4	80329323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	536	80329323	110824953	5242	12954											
PRDM8	56978	broad.mit.edu	37	chr4	81123374	81123374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccgctgccgccggcggcaGcagcgcgaagccatccacag	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81123374G>T	ENST00000339711.4	+	10	1989	c.758G>T	c.(757-759)aGc>aTc	p.S253I	PRDM8_ENST00000415738.2_Missense_Mutation_p.S253I|PRDM8_ENST00000504452.1_Missense_Mutation_p.S253I	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	253	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCCGGCGGCAGCAGCGCGAAG	0.672											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	4:81123374	0	T	81123374	G	T	81123374	3	4	88	1	0	0	0	0	1	0	0	0	12538	971	34	3	768	3	PRDM8	4	81123374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	794051	81123374	110030902	5243	12955											
C4orf22	255119	broad.mit.edu	37	chr4	81504321	81504321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgagagaagaagacaatcGcagtggaaaactgagtgtaa	12	4	0	5	rs150179610	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81504321G>A	ENST00000358105.3	+	3	366	c.317G>A	c.(316-318)cGc>cAc	p.R106H	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.R106H	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	106										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GAAGACAATCGCAGTGGAAAA	0.343													False	0	False	4:81504321	0	A	81504321	G	A	81504321	3	1	88	1	0	0	0	0	1	0	0	0	2272	1087	38	1	327	1	C4orf22	4	81504321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	380947	81504321	109649955	5244	12956											
BMP3	651	broad.mit.edu	37	chr4	81967122	81967122	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagtcaactccttggccatCtgtcagtggatatggccaaa	9	10	3	0	rs147415195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81967122C>A	ENST00000282701.2	+	2	867	c.547C>A	c.(547-549)Ctg>Atg	p.L183M		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	183					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCTTGGCCATCTGTCAGTGGA	0.438													False	0	False	4:81967122	0	A	81967122	C	A	81967122	3	1	88	1	0	0	0	0	1	0	0	0	1466	912	32	3	553	3	BMP3	4	81967122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	462801	81967122	109187154	5245	12957											
BMP3	651	broad.mit.edu	37	chr4	81967161	81967161	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatctcatcgagatattatgTcctggctgtctaaagatatc	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81967161T>A	ENST00000282701.2	+	2	906	c.586T>A	c.(586-588)Tcc>Acc	p.S196T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	196					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AGATATTATGTCCTGGCTGTC	0.443													False	0	False	4:81967161	0	A	81967161	T	A	81967161	3	1	88	1	0	0	0	0	1	0	0	0	1466	1667	58	5	592	5	BMP3	4	81967161	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39	81967161	109187115	5246	12958											
BMP3	651	broad.mit.edu	37	chr4	81974600	81974600	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtaccagaaaagatgtcCtcactcagtattttattctt	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81974600C>A	ENST00000282701.2	+	3	1649	c.1329C>A	c.(1327-1329)tcC>tcA	p.S443S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	443					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AAAAGATGTCCTCACTCAGTA	0.428													False	0	True	4:81974600	0	A	81974600	C	A	81974600	2	1	88	1	0	0	0	0	0	0	0	1	1466	668	24	3		3	BMP3	4	81974600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7439	81974600	109179676	5247	12959											
PRKG2	5593	broad.mit.edu	37	chr4	82065465	82065465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagctcttcaaatgtacCgacagtttggttgaatgttc	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:82065465C>T	ENST00000395578.1	-	10	1290	c.1174G>A	c.(1174-1176)Ggt>Agt	p.G392S	PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.G392S|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.G392S			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	392					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.G392C(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCAAATGTACCGACAGTTTGG	0.378													False	0	False	4:82065465	0	T	82065465	C	T	82065465	3	4	88	1	0	0	0	0	1	0	0	0	12599	652	23	1	1154	1	PRKG2	4	82065465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90865	82065465	109088811	5248	12960											
TMEM150C	441027	broad.mit.edu	37	chr4	83411247	83411247	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagagtgatagatgccgacaGaataacccgtggaattccaa	11	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83411247G>T	ENST00000515780.2	-	7	712	c.508C>A	c.(508-510)Ctg>Atg	p.L170M	TMEM150C_ENST00000508701.1_3'UTR|TMEM150C_ENST00000449862.2_Missense_Mutation_p.L170M			B9EJG8	T150C_HUMAN	transmembrane protein 150C							integral to membrane				ovary(1)	1						GATGCCGACAGAATAACCCGT	0.453													False	0	False	4:83411247	0	T	83411247	G	T	83411247	3	4	88	1	0	0	0	0	1	0	0	0	16151	933	33	3	249	3	TMEM150C	4	83411247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1345782	83411247	107743029	5249	12961											
SEC31A	22872	broad.mit.edu	37	chr4	83742226	83742226	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatcatacagaaactccaaAcgtttgctggcatcatctag	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83742226A>G	ENST00000432794.1	-	27	3649	c.3486T>C	c.(3484-3486)cgT>cgC	p.R1162R	SEC31A_ENST00000508502.1_Silent_p.R1134R|SEC31A_ENST00000448323.1_Silent_p.R1149R|SEC31A_ENST00000264405.5_Silent_p.R898R|SEC31A_ENST00000311785.7_Silent_p.R1035R|SEC31A_ENST00000395310.2_Silent_p.R1149R|SEC31A_ENST00000505472.1_Silent_p.R1180R|SEC31A_ENST00000505984.1_Silent_p.R1095R|SEC31A_ENST00000513858.1_Silent_p.R996R|SEC31A_ENST00000355196.2_Silent_p.R1149R|SEC31A_ENST00000443462.2_Silent_p.R1129R|SEC31A_ENST00000509142.1_Silent_p.R1035R|SEC31A_ENST00000348405.4_Silent_p.R1110R|SEC31A_ENST00000500777.2_Silent_p.R996R|SEC31A_ENST00000326950.5_Silent_p.R1110R			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1149					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAACTCCAAACGTTTGCTGG	0.338													False	0	True	4:83742226	0	G	83742226	A	G	83742226	2	3	88	1	0	0	0	0	0	0	0	1	14079	30	2	4		4	SEC31A	4	83742226	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	330979	83742226	107412050	5250	12962											
SEC31A	22872	broad.mit.edu	37	chr4	83784500	83784500	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagatcttcttttctgtatcCtagaagttcaaggtattttc	6	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83784500C>A	ENST00000432794.1	-	12	1643	c.1480G>T	c.(1480-1482)Gga>Tga	p.G494*	SEC31A_ENST00000443462.2_Nonsense_Mutation_p.G489*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.G266*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.G494*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000395310.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.G494*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.G494*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.G494*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.G494*			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	494					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTTCTGTATCCTAGAAGTTCA	0.308													False	0	False	4:83784500	0	A	83784500	C	A	83784500	4	1	88	1	0	0	0	0	0	1	0	0	14079	690	24	3	2246	3	SEC31A	4	83784500	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42274	83784500	107369776	5251	12963											
SEC31A	22872	broad.mit.edu	37	chr4	83793159	83793159	+	Silent	SNP	C	C	T													cgaagatcccacatctggatCactggtaaccggtcatcctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83793159C>T	ENST00000432794.1	-	7	883	c.720G>A	c.(718-720)gtG>gtA	p.V240V	SEC31A_ENST00000443462.2_Silent_p.V235V|SEC31A_ENST00000448323.1_Silent_p.V240V|SEC31A_ENST00000508502.1_Silent_p.V240V|SEC31A_ENST00000509142.1_Silent_p.V240V|SEC31A_ENST00000326950.5_Silent_p.V240V|SEC31A_ENST00000505984.1_Silent_p.V240V|SEC31A_ENST00000508479.1_Silent_p.V240V|SEC31A_ENST00000348405.4_Silent_p.V240V|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000395310.2_Silent_p.V240V|SEC31A_ENST00000513858.1_Silent_p.V240V|SEC31A_ENST00000355196.2_Silent_p.V240V|SEC31A_ENST00000505472.1_Silent_p.V240V|SEC31A_ENST00000311785.7_Silent_p.V240V|SEC31A_ENST00000500777.2_Silent_p.V240V			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	240	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACATCTGGATCACTGGTAACC	0.468													False	0	False	4:83793159	0	T	83793159	C	T	83793159	2	4	88	1	0	0	0	0	0	0	0	1	14079	813	29	2		2	SEC31A	4	83793159	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8659	83793159	107361117	5252	12964	171	2									
SEC31A	22872	broad.mit.edu	37	chr4	83793168	83793168	+	Silent	SNP	C	C	T													cacatctggatcactggtaaCcggtcatcctcggaggcaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83793168C>T	ENST00000432794.1	-	7	874	c.711G>A	c.(709-711)cgG>cgA	p.R237R	SEC31A_ENST00000443462.2_Silent_p.R232R|SEC31A_ENST00000448323.1_Silent_p.R237R|SEC31A_ENST00000508502.1_Silent_p.R237R|SEC31A_ENST00000509142.1_Silent_p.R237R|SEC31A_ENST00000326950.5_Silent_p.R237R|SEC31A_ENST00000505984.1_Silent_p.R237R|SEC31A_ENST00000508479.1_Silent_p.R237R|SEC31A_ENST00000348405.4_Silent_p.R237R|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000395310.2_Silent_p.R237R|SEC31A_ENST00000513858.1_Silent_p.R237R|SEC31A_ENST00000355196.2_Silent_p.R237R|SEC31A_ENST00000505472.1_Silent_p.R237R|SEC31A_ENST00000311785.7_Silent_p.R237R|SEC31A_ENST00000500777.2_Silent_p.R237R			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	237	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCACTGGTAACCGGTCATCCT	0.473													False	0	False	4:83793168	0	T	83793168	C	T	83793168	2	4	88	1	0	0	0	0	0	0	0	1	14079	494	18	2		2	SEC31A	4	83793168	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	83793168	107361108	5253	12965	171	2									
THAP9	79725	broad.mit.edu	37	chr4	83822022	83822022	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctcagccgggagcgcggcCtctccttccaccagtgcgta	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83822022C>A	ENST00000302236.5	+	1	118	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	THAP9-AS1_ENST00000504520.2_RNA	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	23							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GGAGCGCGGCCTCTCCTTCCA	0.711													False	0	False	4:83822022	0	A	83822022	C	A	83822022	3	1	88	1	0	0	0	0	1	0	0	0	15933	681	24	3	69	3	THAP9	4	83822022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28854	83822022	107332254	5254	12966											
THAP9	79725	broad.mit.edu	37	chr4	83838940	83838940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacatctttaatagtaggaaCtgttatggaaagggacttaa	10	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83838940C>A	ENST00000302236.5	+	5	1626	c.1575C>A	c.(1573-1575)aaC>aaA	p.N525K	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	525							DNA binding|metal ion binding	p.N525K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATAGTAGGAACTGTTATGGAA	0.338													False	0	False	4:83838940	0	A	83838940	C	A	83838940	3	1	88	1	0	0	0	0	1	0	0	0	15933	564	20	3	1593	3	THAP9	4	83838940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16918	83838940	107315336	5255	12967											
LIN54	132660	broad.mit.edu	37	chr4	83860872	83860873	+	Frame_Shift_Ins	INS	-	-	CAAAAGTGATA													ctatttgtgaagttggattgINSattggttttggaacaaccta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83860872_83860873insCAAAAGTGATA	ENST00000340417.3	-	7	1636_1637	c.1259_1260insTATCACTTTTG	c.(1258-1260)atcfs	p.-420fs	LIN54_ENST00000395283.2_Frame_Shift_Ins_p.-331fs|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000505397.1_Frame_Shift_Ins_p.-420fs|LIN54_ENST00000446851.2_Frame_Shift_Ins_p.-199fs|LIN54_ENST00000442461.2_Frame_Shift_Ins_p.-199fs|LIN54_ENST00000506560.1_Frame_Shift_Ins_p.-331fs|LIN54_ENST00000510557.1_Frame_Shift_Ins_p.-199fs	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)						cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				AAGTTGGATTGATTGGTTTTGG	0.411													False	0	True	4:83860872	0	CAAAAGTGATA	83860873	-	CAAAAGTGATA	83860872	7	5	88	1	0	1	1	0	0	0	0	0	8862	1280	45	0	1017	0	LIN54	4	83860872	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	21932	83860872	107293404	5256	12968											
LIN54	132660	broad.mit.edu	37	chr4	83861050	83861050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatacttacttgtttgaCagcctgagctgagacaattg	10	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83861050C>T	ENST00000340417.3	-	6	1611	c.1234G>A	c.(1234-1236)Gtc>Atc	p.V412I	LIN54_ENST00000446851.2_Missense_Mutation_p.V191I|LIN54_ENST00000506560.1_Missense_Mutation_p.V323I|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.V323I|LIN54_ENST00000442461.2_Missense_Mutation_p.V191I|LIN54_ENST00000510557.1_Missense_Mutation_p.V191I|LIN54_ENST00000505397.1_Missense_Mutation_p.V412I	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	412					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACTTGTTTGACAGCCTGAGCT	0.343													False	0	False	4:83861050	0	T	83861050	C	T	83861050	3	4	88	1	0	0	0	0	1	0	0	0	8862	478	17	2	1047	2	LIN54	4	83861050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178	83861050	107293226	5257	12969											
LIN54	132660	broad.mit.edu	37	chr4	83905801	83905802	+	Frame_Shift_Ins	INS	-	-	CTATATCAGCCAATCAGATTATTTTAAACAAAGTATCACAGACATC													gtggttactgtacactgtgaINSttggttccgtggaaatgggc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83905801_83905802insCTATATCAGCCAATCAGATTATTTTAAACAAAGTATCACAGACATC	ENST00000340417.3	-	2	573_574	c.196_197insGATGTCTGTGATACTTTGTTTAAAATAATCTGATTGGCTGATATAG	c.(196-198)atcfs	p.I66fs	LIN54_ENST00000395283.2_Frame_Shift_Ins_p.I66fs|LIN54_ENST00000395282.2_Frame_Shift_Ins_p.I66fs|LIN54_ENST00000505397.1_Frame_Shift_Ins_p.I66fs|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000506560.1_Frame_Shift_Ins_p.I66fs|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000446851.2_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	66					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				GTACACTGTGATTGGTTCCGTG	0.421													False	0	False	4:83905801	0	CTATATCAGCCAATCAGATTATTTTAAACAAAGTATCACAGACATC	83905802	-	CTATATCAGCCAATCAGATTATTTTAAACAAAGTATCACAGACATC	83905801	7	5	88	1	0	1	1	0	0	0	0	0	8862	333	12	0	2100	0	LIN54	4	83905801	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	44751	83905801	107248475	5258	12970											
FAM175A	84142	broad.mit.edu	37	chr4	84390190	84390190	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgaatcttacctgtgTgtttgtactgctcggctaaa	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84390190T>C	ENST00000321945.7	-	6	699	c.591A>G	c.(589-591)acA>acG	p.T197T	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Silent_p.T148T|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	197					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CTTACCTGTGTGTTTGTACTG	0.363													False	0	True	4:84390190	0	C	84390190	T	C	84390190	2	2	88	1	0	0	0	0	0	0	0	1	5533	1683	59	4		4	FAM175A	4	84390190	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	484389	84390190	106764086	5259	12971											
FAM175A	84142	broad.mit.edu	37	chr4	84390218	84390218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgctcggctaaaaccagtgGacatacaggaacctgataca	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84390218G>A	ENST00000321945.7	-	6	671	c.563C>T	c.(562-564)tCc>tTc	p.S188F	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Missense_Mutation_p.S139F|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	188					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						AAAACCAGTGGACATACAGGA	0.363													False	0	False	4:84390218	0	A	84390218	G	A	84390218	3	1	88	1	0	0	0	0	1	0	0	0	5533	1174	41	2	682	2	FAM175A	4	84390218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	84390218	106764058	5260	12972											
FAM175A	84142	broad.mit.edu	37	chr4	84391390	84391390	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atataaggaatgttccagtcGatgagtagagcagctttctg	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84391390G>A	ENST00000321945.7	-	5	550	c.442C>T	c.(442-444)Cga>Tga	p.R148*	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Nonsense_Mutation_p.R99*	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	148					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TGTTCCAGTCGATGAGTAGAG	0.348													False	0	False	4:84391390	0	A	84391390	G	A	84391390	4	1	88	1	0	0	0	0	0	1	0	0	5533	1066	37	1	807	1	FAM175A	4	84391390	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1172	84391390	106762886	5261	12973											
WDFY3	23001	broad.mit.edu	37	chr4	85600086	85600086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttaccaggtttcaatctgCtgtaattccgcacctcaatg	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85600086C>T	ENST00000322366.6	-	64	10489	c.10082G>A	c.(10081-10083)aGc>aAc	p.S3361N	WDFY3_ENST00000295888.4_Missense_Mutation_p.S3378N			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3378						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTCAATCTGCTGTAATTCCG	0.517													False	0	False	4:85600086	0	T	85600086	C	T	85600086	3	4	88	1	0	0	0	0	1	0	0	0	17354	797	28	2	463	2	WDFY3	4	85600086	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1208696	85600086	105554190	5262	12974											
WDFY3	23001	broad.mit.edu	37	chr4	85605150	85605150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgttctgcgtgtcccattcGttcatctccgacatgcagca	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85605150G>A	ENST00000322366.6	-	62	10028	c.9621C>T	c.(9619-9621)aaC>aaT	p.N3207N	WDFY3_ENST00000295888.4_Silent_p.N3224N			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3224						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTCCCATTCGTTCATCTCCG	0.478													False	0	False	4:85605150	0	A	85605150	G	A	85605150	2	1	88	1	0	0	0	0	0	0	0	1	17354	1136	40	1		1	WDFY3	4	85605150	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5064	85605150	105549126	5263	12975											
WDFY3	23001	broad.mit.edu	37	chr4	85617954	85617954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggataacatctccaagCttggtgccattttgtttaca	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85617954C>T	ENST00000322366.6	-	56	8975	c.8568G>A	c.(8566-8568)aaG>aaA	p.K2856K	WDFY3_ENST00000295888.4_Silent_p.K2873K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2873	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATCTCCAAGCTTGGTGCCAT	0.368													False	0	False	4:85617954	0	T	85617954	C	T	85617954	2	4	88	1	0	0	0	0	0	0	0	1	17354	796	28	2		2	WDFY3	4	85617954	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12804	85617954	105536322	5264	12976											
WDFY3	23001	broad.mit.edu	37	chr4	85715716	85715716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtggaaacaatcagagatCggtcttttgctgatagaact	11	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85715716C>T	ENST00000322366.6	-	21	3850	c.3443G>A	c.(3442-3444)cGa>cAa	p.R1148Q	WDFY3_ENST00000295888.4_Missense_Mutation_p.R1148Q			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1148						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATCAGAGATCGGTCTTTTGC	0.368													False	0	False	4:85715716	0	T	85715716	C	T	85715716	3	4	88	1	0	0	0	0	1	0	0	0	17354	884	31	1	7329	1	WDFY3	4	85715716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97762	85715716	105438560	5265	12977											
WDFY3	23001	broad.mit.edu	37	chr4	85750255	85750255	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatctttgaggaaacaagaAagcccagcaaacatttcgac	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85750255A>C	ENST00000322366.6	-	9	1265	c.858T>G	c.(856-858)ctT>ctG	p.L286L	WDFY3_ENST00000295888.4_Silent_p.L286L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	286						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGAAACAAGAAAGCCCAGCAA	0.388													False	0	True	4:85750255	0	C	85750255	A	C	85750255	2	2	88	1	0	0	0	0	0	0	0	1	17354	1	1	4		4	WDFY3	4	85750255	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34539	85750255	105404021	5266	12978											
WDFY3	23001	broad.mit.edu	37	chr4	85750273	85750273	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaagcccagcaaacatttcGacaatttctaggggagacag	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85750273G>A	ENST00000322366.6	-	9	1247	c.840C>T	c.(838-840)gtC>gtT	p.V280V	WDFY3_ENST00000295888.4_Silent_p.V280V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	280						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.V280V(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAACATTTCGACAATTTCTA	0.358													False	0	False	4:85750273	0	A	85750273	G	A	85750273	2	1	88	1	0	0	0	0	0	0	0	1	17354	1045	37	1		1	WDFY3	4	85750273	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	85750273	105404003	5267	12979											
WDFY3	23001	broad.mit.edu	37	chr4	85758135	85758135	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctagaggtagctcatTctgtgcacctccaactgcct	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85758135T>G	ENST00000322366.6	-	7	930	c.523A>C	c.(523-525)Aat>Cat	p.N175H	WDFY3_ENST00000295888.4_Missense_Mutation_p.N175H			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	175						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTAGCTCATTCTGTGCACCT	0.453													False	0	False	4:85758135	0	G	85758135	T	G	85758135	3	3	88	1	0	0	0	0	1	0	0	0	17354	1783	62	4	10348	4	WDFY3	4	85758135	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7862	85758135	105396141	5268	12980											
ARHGAP24	83478	broad.mit.edu	37	chr4	86491742	86491742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccccaacaaggccaaggGcggcagaatgccatcaagtg	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86491742G>A	ENST00000395184.1	+	2	514	c.48G>A	c.(46-48)ggG>ggA	p.G16G	ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_Silent_p.G16G	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	16					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGGCCAAGGGCGGCAGAATG	0.483													False	0	True	4:86491742	0	A	86491742	G	A	86491742	2	1	88	1	0	0	0	0	0	0	0	1	875	1190	42	2		2	ARHGAP24	4	86491742	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	733607	86491742	104662534	5269	12981											
ARHGAP24	83478	broad.mit.edu	37	chr4	86863294	86863294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctggctccgatgttggTggagcagtgcgtggacttta	15	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86863294T>C	ENST00000395184.1	+	5	933	c.467T>C	c.(466-468)gTg>gCg	p.V156A	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.V61A|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.V63A|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.V156A	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	156	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCGATGTTGGTGGAGCAGTGC	0.473													False	0	False	4:86863294	0	C	86863294	T	C	86863294	3	2	88	1	0	0	0	0	1	0	0	0	875	1696	59	4	597	4	ARHGAP24	4	86863294	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	371552	86863294	104290982	5270	12982											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916302	86916302	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgggaaccccacaaatgttCgaaacatgagctggctgcca	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86916302C>T	ENST00000395184.1	+	9	1961	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	ARHGAP24_ENST00000395183.2_Nonsense_Mutation_p.R404*|ARHGAP24_ENST00000264343.4_Nonsense_Mutation_p.R406*	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	499					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.R406*(1)|p.R499*(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CACAAATGTTCGAAACATGAG	0.507													False	0	False	4:86916302	0	T	86916302	C	T	86916302	4	4	88	1	0	0	0	0	0	1	0	0	875	876	31	1	1641	1	ARHGAP24	4	86916302	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53008	86916302	104237974	5271	12983											
PTPN13	0	broad.mit.edu	37	chr4	87622493	87622493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaatctatgggatttctgtCcatcaaagatacacaagatg	7	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87622493C>T	ENST00000436978.1	+	7	1214	c.734C>T	c.(733-735)tCc>tTc	p.S245F	PTPN13_ENST00000316707.6_Missense_Mutation_p.S245F|PTPN13_ENST00000411767.2_Missense_Mutation_p.S245F|PTPN13_ENST00000511467.1_Missense_Mutation_p.S245F|PTPN13_ENST00000427191.2_Missense_Mutation_p.S245F	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	245						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGATTTCTGTCCATCAAAGAT	0.368													False	0	False	4:87622493	0	T	87622493	C	T	87622493	3	4	88	1	0	0	0	0	1	0	0	0	12859	855	30	2	756	2	PTPN13	4	87622493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	706191	87622493	103531783	5272	12984											
PTPN13	0	broad.mit.edu	37	chr4	87637706	87637706	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttcgaagatacaaaactTatcatggtgatgtctttagt	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87637706T>C	ENST00000436978.1	+	8	1699	c.1219T>C	c.(1219-1221)Tat>Cat	p.Y407H	PTPN13_ENST00000316707.6_Missense_Mutation_p.Y407H|PTPN13_ENST00000411767.2_Missense_Mutation_p.Y407H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Y407H|PTPN13_ENST00000427191.2_Missense_Mutation_p.Y407H	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	407						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATACAAAACTTATCATGGTGA	0.323													False	0	False	4:87637706	0	C	87637706	T	C	87637706	3	2	88	1	0	0	0	0	1	0	0	0	12859	1754	61	4	1245	4	PTPN13	4	87637706	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15213	87637706	103516570	5273	12985											
PTPN13	0	broad.mit.edu	37	chr4	87672030	87672030	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctttggcaggagtgacaAaacttaataagtaagaacat	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87672030A>C	ENST00000436978.1	+	18	3538	c.3058A>C	c.(3058-3060)Aaa>Caa	p.K1020Q	PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000411767.2_Missense_Mutation_p.K1020Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.K1020Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1020Q	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1020						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGAGTGACAAAACTTAATAA	0.348													False	0	True	4:87672030	0	C	87672030	A	C	87672030	3	2	88	1	0	0	0	0	1	0	0	0	12859	15	1	4	3124	4	PTPN13	4	87672030	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34324	87672030	103482246	5274	12986											
SLC10A6	345274	broad.mit.edu	37	chr4	87752952	87752952	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtcactcaccttgagaAtgattttggattgttttggc	10	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87752952A>C	ENST00000273905.6	-	3	725	c.578T>G	c.(577-579)aTt>aGt	p.I193S	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	193						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CACCTTGAGAATGATTTTGGA	0.473													False	0	False	4:87752952	0	C	87752952	A	C	87752952	3	2	88	1	0	0	0	0	1	0	0	0	14459	101	4	4	571	4	SLC10A6	4	87752952	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80922	87752952	103401324	5275	12987											
C4orf36	132989	broad.mit.edu	37	chr4	87809352	87809352	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accaccaaatgaaatttcttCcaagaaaggcaacttgatat	5	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87809352C>A	ENST00000473559.1	-	6	805	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	C4orf36_ENST00000295898.3_Nonsense_Mutation_p.E48*|C4orf36_ENST00000503001.1_5'UTR			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	48										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		GAAATTTCTTCCAAGAAAGGC	0.418													False	0	False	4:87809352	0	A	87809352	C	A	87809352	4	1	88	1	0	0	0	0	0	1	0	0	2283	864	30	3	219	3	C4orf36	4	87809352	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56400	87809352	103344924	5276	12988											
AFF1	4299	broad.mit.edu	37	chr4	87968170	87968170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaaaagctgcggcccaccGgacagccagcacctgaccca	10	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87968170G>A	ENST00000307808.6	+	3	882	c.462G>A	c.(460-462)ccG>ccA	p.P154P	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.P161P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	154						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCGGCCCACCGGACAGCCAGC	0.557													False	0	False	4:87968170	0	A	87968170	G	A	87968170	2	1	88	1	0	0	0	0	0	0	0	1	356	1103	39	1		1	AFF1	4	87968170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158818	87968170	103186106	5277	12989											
AFF1	4299	broad.mit.edu	37	chr4	88035526	88035526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttatttttagcctgagcCtccaacaacaaacaaatggc	5	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88035526C>A	ENST00000307808.6	+	11	1940	c.1520C>A	c.(1519-1521)cCt>cAt	p.P507H	AFF1_ENST00000544085.1_Missense_Mutation_p.P145H|AFF1_ENST00000395146.4_Missense_Mutation_p.P514H	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	507						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TAGCCTGAGCCTCCAACAACA	0.493													False	0	False	4:88035526	0	A	88035526	C	A	88035526	3	1	88	1	0	0	0	0	1	0	0	0	356	681	24	3	1604	3	AFF1	4	88035526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67356	88035526	103118750	5278	12990											
AFF1	4299	broad.mit.edu	37	chr4	88035561	88035561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatggcagctggacaactggCtgaccaaagtcagccagcca	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88035561C>A	ENST00000307808.6	+	11	1975	c.1555C>A	c.(1555-1557)Ctg>Atg	p.L519M	AFF1_ENST00000544085.1_Missense_Mutation_p.L157M|AFF1_ENST00000395146.4_Missense_Mutation_p.L526M	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	519						nucleus	sequence-specific DNA binding transcription factor activity	p.W525fs*19(2)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGACAACTGGCTGACCAAAGT	0.527													False	0	False	4:88035561	0	A	88035561	C	A	88035561	3	1	88	1	0	0	0	0	1	0	0	0	356	796	28	3	1639	3	AFF1	4	88035561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	88035561	103118715	5279	12991											
AFF1	4299	broad.mit.edu	37	chr4	88036157	88036157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaccccacagtggcagCggcagcaggactagtggctg	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88036157C>T	ENST00000307808.6	+	11	2571	c.2151C>T	c.(2149-2151)agC>agT	p.S717S	AFF1_ENST00000544085.1_Silent_p.S355S|AFF1_ENST00000395146.4_Silent_p.S724S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	717						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ACAGTGGCAGCGGCAGCAGGA	0.622													False	0	True	4:88036157	0	T	88036157	C	T	88036157	2	4	88	1	0	0	0	0	0	0	0	1	356	767	27	1		1	AFF1	4	88036157	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	596	88036157	103118119	5280	12992											
AFF1	4299	broad.mit.edu	37	chr4	88047336	88047336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccagaagccagccaagCctgcacttaagaggtcaagg	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88047336C>T	ENST00000307808.6	+	13	3058	c.2638C>T	c.(2638-2640)Cct>Tct	p.P880S	AFF1_ENST00000544085.1_Missense_Mutation_p.P518S|AFF1_ENST00000395146.4_Missense_Mutation_p.P887S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	880						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCCAGCCAAGCCTGCACTTAA	0.587													False	0	False	4:88047336	0	T	88047336	C	T	88047336	3	4	88	1	0	0	0	0	1	0	0	0	356	739	26	2	2730	2	AFF1	4	88047336	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11179	88047336	103106940	5281	12993											
HSD17B13	345275	broad.mit.edu	37	chr4	88231425	88231425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagaaagatattgatatacGatggaacaaaaatcattttc	6	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88231425G>A	ENST00000328546.4	-	6	846	c.782C>T	c.(781-783)tCg>tTg	p.S261L	HSD17B13_ENST00000302219.6_Missense_Mutation_p.S225L	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	261						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		ATTGATATACGATGGAACAAA	0.313													False	0	False	4:88231425	0	A	88231425	G	A	88231425	3	1	88	1	0	0	0	0	1	0	0	0	7429	1059	37	1	128	1	HSD17B13	4	88231425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184089	88231425	102922851	5282	12994											
HSD17B11	51170	broad.mit.edu	37	chr4	88261694	88261694	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaataaaaatcatcttctGctcagtcagaatcccatgca	6	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88261694G>A	ENST00000358290.4	-	6	1075	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.Q210*	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	254					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ATCATCTTCTGCTCAGTCAGA	0.363													False	0	False	4:88261694	0	A	88261694	G	A	88261694	4	1	88	1	0	0	0	0	0	1	0	0	7427	1328	46	2	150	2	HSD17B11	4	88261694	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30269	88261694	102892582	5283	12995											
HSD17B11	51170	broad.mit.edu	37	chr4	88278563	88278563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaacagcagcaaacttgCttgaactgaaaatagagagt	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88278563C>T	ENST00000358290.4	-	5	878	c.563G>A	c.(562-564)aGc>aAc	p.S188N	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.S144N	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	188					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AGCAAACTTGCTTGAACTGAA	0.388													False	0	True	4:88278563	0	T	88278563	C	T	88278563	3	4	88	1	0	0	0	0	1	0	0	0	7427	797	28	2	351	2	HSD17B11	4	88278563	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16869	88278563	102875713	5284	12996											
NUDT9	53343	broad.mit.edu	37	chr4	88359522	88359522	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagattgaaaatggaagaccGaggtaggtactgggagcaga	16	4	0	4	rs115855591	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88359522G>A	ENST00000473942.1	+	3	413	c.291G>A	c.(289-291)ccG>ccA	p.P97P	NUDT9_ENST00000302174.4_Silent_p.P147P	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	147						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		ATGGAAGACCGAGGTAGGTAC	0.373													False	0	True	4:88359522	0	A	88359522	G	A	88359522	2	1	88	1	0	0	0	0	0	0	0	1	10814	1045	37	1		1	NUDT9	4	88359522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80959	88359522	102794754	5285	12997											
SPARCL1	8404	broad.mit.edu	37	chr4	88400699	88400699	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggcaccagagatgctcGcagaggagcaagttcagaat	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88400699G>A	ENST00000418378.1	-	11	2420	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	SPARCL1_ENST00000282470.6_Nonsense_Mutation_p.R617*|SPARCL1_ENST00000503414.1_Nonsense_Mutation_p.R492*	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	617					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AGAGATGCTCGCAGAGGAGCA	0.478													False	0	False	4:88400699	0	A	88400699	G	A	88400699	4	1	88	1	0	0	0	0	0	1	0	0	15078	1095	38	1	153	1	SPARCL1	4	88400699	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41177	88400699	102753577	5286	12998											
SPARCL1	8404	broad.mit.edu	37	chr4	88414858	88414858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcctccagaaaggcctggCttgggatgaagtagtcatca	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88414858C>T	ENST00000418378.1	-	5	1665	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	SPARCL1_ENST00000282470.6_Missense_Mutation_p.S365N|SPARCL1_ENST00000503414.1_Missense_Mutation_p.S240N	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	365					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AAAGGCCTGGCTTGGGATGAA	0.478													False	0	False	4:88414858	0	T	88414858	C	T	88414858	3	4	88	1	0	0	0	0	1	0	0	0	15078	797	28	2	932	2	SPARCL1	4	88414858	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14159	88414858	102739418	5287	12999											
SPARCL1	8404	broad.mit.edu	37	chr4	88415481	88415481	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggttttcctctctctttgtGatactttcttgttggttaga	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88415481G>T	ENST00000418378.1	-	5	1042	c.471C>A	c.(469-471)atC>atA	p.I157I	SPARCL1_ENST00000282470.6_Silent_p.I157I|SPARCL1_ENST00000503414.1_Silent_p.I32I	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	157					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTCTCTTTGTGATACTTTCTT	0.403													False	0	False	4:88415481	0	T	88415481	G	T	88415481	2	4	88	1	0	0	0	0	0	0	0	1	15078	1280	45	3		3	SPARCL1	4	88415481	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	623	88415481	102738795	5288	13000											
IBSP	3381	broad.mit.edu	37	chr4	88731834	88731834	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggctgagaataccacactttCtgctacaacactgggctatg	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88731834C>A	ENST00000226284.5	+	6	390	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	108	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACCACACTTTCTGCTACAACA	0.428													False	0	True	4:88731834	0	A	88731834	C	A	88731834	3	1	88	1	0	0	0	0	1	0	0	0	7525	913	32	3	341	3	IBSP	4	88731834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316353	88731834	102422442	5289	13001											
IBSP	3381	broad.mit.edu	37	chr4	88732530	88732530	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaggctggggatataacaaAtaaagctacaaaagagaagg	11	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88732530A>T	ENST00000226284.5	+	7	489	c.422A>T	c.(421-423)aAt>aTt	p.N141I		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	141	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GATATAACAAATAAAGCTACA	0.378													False	0	True	4:88732530	0	T	88732530	A	T	88732530	3	4	88	1	0	0	0	0	1	0	0	0	7525	101	4	5	444	5	IBSP	4	88732530	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	696	88732530	102421746	5290	13002											
PKD2	5311	broad.mit.edu	37	chr4	88959637	88959637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatagggctccctttgggCcccgaaatggaaccgcgtaa	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88959637C>T	ENST00000237596.2	+	4	1144	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	360						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCCCTTTGGGCCCCGAAATGG	0.453													False	0	True	4:88959637	0	T	88959637	C	T	88959637	3	4	88	1	0	0	0	0	1	0	0	0	12035	739	26	2	1092	2	PKD2	4	88959637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227107	88959637	102194639	5291	13003											
PKD2	5311	broad.mit.edu	37	chr4	88968016	88968016	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattgtctggatgttgtgatCgttgtggtaggtttgagaac	14	3	1	2	rs145716012		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88968016C>T	ENST00000237596.2	+	6	1608	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	514						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATGTTGTGATCGTTGTGGTAG	0.363													False	0	False	4:88968016	0	T	88968016	C	T	88968016	2	4	88	1	0	0	0	0	0	0	0	1	12035	874	31	1		1	PKD2	4	88968016	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8379	88968016	102186260	5292	13004											
ABCG2	9429	broad.mit.edu	37	chr4	89015812	89015812	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcattatgctgcaaagcCtataacacaagtgggagcag	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89015812C>T	ENST00000237612.3	-	15	2283		c.e15-1		ABCG2_ENST00000515655.1_Splice_Site	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2						cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GCTGCAAAGCCTATAACACAA	0.373													False	0	False	4:89015812	0	T	89015812	C	T	89015812	5	4	88	1	0	0	0	0	0	0	1	0	69	695	24	2	238	2	ABCG2	4	89015812	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47796	89015812	102138464	5293	13005											
ABCG2	9429	broad.mit.edu	37	chr4	89016716	89016716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtactgaagccatgacaGccaagatgcaatggttgtga	12	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89016716G>A	ENST00000237612.3	-	14	2238	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	ABCG2_ENST00000515655.1_Silent_p.G561G	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	565	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	AGCCATGACAGCCAAGATGCA	0.408													False	0	False	4:89016716	0	A	89016716	G	A	89016716	2	1	88	1	0	0	0	0	0	0	0	1	69	962	34	2		2	ABCG2	4	89016716	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	904	89016716	102137560	5294	13006											
ABCG2	9429	broad.mit.edu	37	chr4	89020601	89020601	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atccgctgatgtattcatgtCtatagaacaaaaatacgtat	6	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89020601C>A	ENST00000237612.3	-	12	1913		c.e12-1		ABCG2_ENST00000515655.1_Splice_Site	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2						cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GTATTCATGTCTATAGAACAA	0.383													False	0	False	4:89020601	0	A	89020601	C	A	89020601	5	1	88	1	0	0	0	0	0	0	1	0	69	927	32	3	620	3	ABCG2	4	89020601	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3885	89020601	102133675	5295	13007											
ABCG2	9429	broad.mit.edu	37	chr4	89034473	89034473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgagctatagaggcctgGggattacccagcaagttttt	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89034473G>A	ENST00000237612.3	-	9	1721	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	ABCG2_ENST00000515655.1_Silent_p.P392P	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	392	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAGAGGCCTGGGGATTACCCA	0.423													False	0	True	4:89034473	0	A	89034473	G	A	89034473	2	1	88	1	0	0	0	0	0	0	0	1	69	1219	43	2		2	ABCG2	4	89034473	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13872	89034473	102119803	5296	13008											
PPM1K	152926	broad.mit.edu	37	chr4	89199713	89199713	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccaccacttctgaccaaaGtaattaaggcagctgttgac	7	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89199713G>T	ENST00000608933.1	-	2	412	c.23C>A	c.(22-24)aCt>aAt	p.T8N	PPM1K_ENST00000514204.1_Missense_Mutation_p.T8N|PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000315194.4_Missense_Mutation_p.T8N|PPM1K_ENST00000295908.7_Missense_Mutation_p.T8N|PPM1K_ENST00000506423.1_5'UTR	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K						protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TCTGACCAAAGTAATTAAGGC	0.507													False	0	True	4:89199713	0	T	89199713	G	T	89199713	3	4	88	1	0	0	0	0	1	0	0	0	12417	1029	36	3	1119	3	PPM1K	4	89199713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165240	89199713	101954563	5297	13009											
HERC6	55008	broad.mit.edu	37	chr4	89311904	89311904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagggtgaggtccctggaGgggatcccactggctcaggt	17	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89311904G>T	ENST00000380265.5	+	4	720	c.537G>T	c.(535-537)gaG>gaT	p.E179D	HERC6_ENST00000273960.3_Missense_Mutation_p.E179D|HERC6_ENST00000264346.7_Missense_Mutation_p.E179D	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	179					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GGTCCCTGGAGGGGATCCCAC	0.627													False	0	True	4:89311904	0	T	89311904	G	T	89311904	3	4	88	1	0	0	0	0	1	0	0	0	7109	991	35	3	348	3	HERC6	4	89311904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112191	89311904	101842372	5298	13010											
HERC6	55008	broad.mit.edu	37	chr4	89317258	89317258	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggtccacaacttgtggaaaGaattgatggcctagtttcgc	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89317258G>T	ENST00000380265.5	+	6	1034	c.851G>T	c.(850-852)aGa>aTa	p.R284I	HERC6_ENST00000273960.3_Missense_Mutation_p.R284I|HERC6_ENST00000264346.7_Missense_Mutation_p.R284I	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	284					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CTTGTGGAAAGAATTGATGGC	0.428													False	0	True	4:89317258	0	T	89317258	G	T	89317258	3	4	88	1	0	0	0	0	1	0	0	0	7109	942	33	3	670	3	HERC6	4	89317258	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5354	89317258	101837018	5299	13011											
HERC5	51191	broad.mit.edu	37	chr4	89389501	89389501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcatcctttcagaaagCcatacctcagaaaaggagtt	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89389501C>T	ENST00000264350.3	+	8	1215	c.1062C>T	c.(1060-1062)agC>agT	p.S354S	HERC5_ENST00000508159.1_5'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	354					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	p.S354S(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTTCAGAAAGCCATACCTCAG	0.343													False	0	False	4:89389501	0	T	89389501	C	T	89389501	2	4	88	1	0	0	0	0	0	0	0	1	7108	738	26	2		2	HERC5	4	89389501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72243	89389501	101764775	5300	13012											
HERC5	51191	broad.mit.edu	37	chr4	89425454	89425454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggtttatgaagaatttcGgagaggattttataaaatgt	12	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89425454G>A	ENST00000264350.3	+	21	2807	c.2654G>A	c.(2653-2655)cGg>cAg	p.R885Q	HERC5_ENST00000508159.1_Missense_Mutation_p.R523Q	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	885	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAAGAATTTCGGAGAGGATTT	0.323													False	0	False	4:89425454	0	A	89425454	G	A	89425454	3	1	88	1	0	0	0	0	1	0	0	0	7108	1116	39	1	2736	1	HERC5	4	89425454	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35953	89425454	101728822	5301	13013											
HERC5	51191	broad.mit.edu	37	chr4	89426989	89426989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggaaacagttgaagaagCgcttcaagaagccatcaaca	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89426989C>T	ENST00000264350.3	+	23	3188	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	HERC5_ENST00000508159.1_Missense_Mutation_p.A650V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	1012	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GTTGAAGAAGCGCTTCAAGAA	0.413													False	0	False	4:89426989	0	T	89426989	C	T	89426989	3	4	88	1	0	0	0	0	1	0	0	0	7108	768	27	1	3125	1	HERC5	4	89426989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1535	89426989	101727287	5302	13014											
HERC3	8916	broad.mit.edu	37	chr4	89571092	89571092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagctgttttcttggggtGcagggagtgatggtcagcta	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89571092G>A	ENST00000402738.1	+	4	567	c.328G>A	c.(328-330)Gca>Aca	p.A110T	HERC3_ENST00000264345.3_Missense_Mutation_p.A110T|HERC3_ENST00000407637.1_Missense_Mutation_p.A110T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	110					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTCTTGGGGTGCAGGGAGTGA	0.498													False	0	False	4:89571092	0	A	89571092	G	A	89571092	3	1	88	1	0	0	0	0	1	0	0	0	7106	1319	46	2	334	2	HERC3	4	89571092	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144103	89571092	101583184	5303	13015											
FAM13A	10144	broad.mit.edu	37	chr4	89708990	89708990	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagatgctgatagtgtTccagattctgagtcctctga	11	8	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89708990T>C	ENST00000264344.5	-	10	1392	c.1185A>G	c.(1183-1185)ggA>ggG	p.G395G	FAM13A_ENST00000395002.2_Silent_p.G69G|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000503556.1_Silent_p.G55G|FAM13A_ENST00000513837.1_Silent_p.G41G|FAM13A_ENST00000508369.1_Silent_p.G69G|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	395					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTGATAGTGTTCCAGATTCTG	0.478													False	0	False	4:89708990	0	C	89708990	T	C	89708990	2	2	88	1	0	0	0	0	0	0	0	1	5488	1770	62	4		4	FAM13A	4	89708990	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	137898	89708990	101445286	5304	13016											
TIGD2	166815	broad.mit.edu	37	chr4	90034783	90034783	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgcaaatgccacaggtTtacacaaacttaatctttgt	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90034783T>G	ENST00000317005.2	+	1	816	c.658T>G	c.(658-660)Tta>Gta	p.L220V		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	220	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TGCCACAGGTTTACACAAACT	0.423													False	0	True	4:90034783	0	G	90034783	T	G	90034783	3	3	88	1	0	0	0	0	1	0	0	0	15978	1838	64	4	660	4	TIGD2	4	90034783	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	325793	90034783	101119493	5305	13017											
GPRIN3	285513	broad.mit.edu	37	chr4	90169370	90169370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcggctgggcctgcgtgggCtggctttgacggagcgagat	19	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90169370C>A	ENST00000609438.1	-	2	2410	c.1892G>T	c.(1891-1893)aGc>aTc	p.S631I	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S631I	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCTGCGTGGGCTGGCTTTGAC	0.577													False	0	True	4:90169370	0	A	90169370	C	A	90169370	3	1	88	1	0	0	0	0	1	0	0	0	6778	797	28	3	442	3	GPRIN3	4	90169370	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134587	90169370	100984906	5306	13018											
GPRIN3	285513	broad.mit.edu	37	chr4	90169956	90169956	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctgctaacctcccatcttCtttacacgtatgctgggcat	6	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90169956C>T	ENST00000609438.1	-	2	1824	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	GPRIN3_ENST00000333209.4_Missense_Mutation_p.E436K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTCCCATCTTCTTTACACGTA	0.468													False	0	True	4:90169956	0	T	90169956	C	T	90169956	3	4	88	1	0	0	0	0	1	0	0	0	6778	922	32	2	1028	2	GPRIN3	4	90169956	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	586	90169956	100984320	5307	13019											
GPRIN3	285513	broad.mit.edu	37	chr4	90170801	90170801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctctgtgatctcatcaggGaatcttcaggcatggatgag	11	8	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90170801G>A	ENST00000609438.1	-	2	979	c.461C>T	c.(460-462)tCc>tTc	p.S154F	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S154F	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTCATCAGGGAATCTTCAGG	0.512													False	0	True	4:90170801	0	A	90170801	G	A	90170801	3	1	88	1	0	0	0	0	1	0	0	0	6778	1174	41	2	1873	2	GPRIN3	4	90170801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	845	90170801	100983475	5308	13020											
MMRN1	22915	broad.mit.edu	37	chr4	90856522	90856522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgatgctgcaaatgtTtgaagatttgcacattcaag	9	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90856522T>C	ENST00000394980.1	+	7	2010	c.1691T>C	c.(1690-1692)tTt>tCt	p.F564S	MMRN1_ENST00000508372.1_Missense_Mutation_p.F306S|MMRN1_ENST00000264790.2_Missense_Mutation_p.F564S|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	564					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTGCAAATGTTTGAAGATTTG	0.383													False	0	True	4:90856522	0	C	90856522	T	C	90856522	3	2	88	1	0	0	0	0	1	0	0	0	9737	1841	64	4	1713	4	MMRN1	4	90856522	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	685721	90856522	100297754	5309	13021											
MMRN1	22915	broad.mit.edu	37	chr4	90872841	90872841	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctttacctgtgcctgcagAcatccttttactggtgacaa	8	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90872841A>G	ENST00000394980.1	+	8	3523	c.3204A>G	c.(3202-3204)agA>agG	p.R1068R	MMRN1_ENST00000508372.1_Silent_p.R810R|MMRN1_ENST00000264790.2_Silent_p.R1068R|MMRN1_ENST00000394981.1_Silent_p.R371R			Q13201	MMRN1_HUMAN	multimerin 1	1068	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTGCCTGCAGACATCCTTTTA	0.433													False	0	False	4:90872841	0	G	90872841	A	G	90872841	2	3	88	1	0	0	0	0	0	0	0	1	9737	272	10	4		4	MMRN1	4	90872841	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16319	90872841	100281435	5310	13022											
MMRN1	22915	broad.mit.edu	37	chr4	90874186	90874186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagatatgcacccatggtgGcattttttgcatctcatacg	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90874186G>A	ENST00000394980.1	+	9	3623	c.3304G>A	c.(3304-3306)Gca>Aca	p.A1102T	MMRN1_ENST00000508372.1_Missense_Mutation_p.A844T|MMRN1_ENST00000264790.2_Missense_Mutation_p.A1102T|MMRN1_ENST00000394981.1_Missense_Mutation_p.A405T			Q13201	MMRN1_HUMAN	multimerin 1	1102	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACCCATGGTGGCATTTTTTGC	0.348													False	0	False	4:90874186	0	A	90874186	G	A	90874186	3	1	88	1	0	0	0	0	1	0	0	0	9737	1203	42	2	3334	2	MMRN1	4	90874186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1345	90874186	100280090	5311	13023											
GRID2	2895	broad.mit.edu	37	chr4	94006190	94006190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggccctggtcagctccAttggctgcacgtcagcagga	12	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94006190A>G	ENST00000282020.4	+	3	547	c.289A>G	c.(289-291)Att>Gtt	p.I97V	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	97					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGTCAGCTCCATTGGCTGCAC	0.512													False	0	False	4:94006190	0	G	94006190	A	G	94006190	3	3	88	1	0	0	0	0	1	0	0	0	6819	217	8	4	299	4	GRID2	4	94006190	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3132004	94006190	97148086	5312	13024											
GRID2	2895	broad.mit.edu	37	chr4	94344105	94344105	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catggaatggcttggtaggaGaacttgtctttaaggtaaga	13	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94344105G>A	ENST00000282020.4	+	10	1789	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	GRID2_ENST00000510992.1_Missense_Mutation_p.E416K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	511					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTTGGTAGGAGAACTTGTCTT	0.368													False	0	False	4:94344105	0	A	94344105	G	A	94344105	3	1	88	1	0	0	0	0	1	0	0	0	6819	943	33	2	1569	2	GRID2	4	94344105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337915	94344105	96810171	5313	13025											
GRID2	2895	broad.mit.edu	37	chr4	94547517	94547517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttacaccattggaaataCtgttgctgatcggggatatg	10	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94547517C>A	ENST00000282020.4	+	14	2549	c.2291C>A	c.(2290-2292)aCt>aAt	p.T764N	GRID2_ENST00000510992.1_Missense_Mutation_p.T669N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	764					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATTGGAAATACTGTTGCTGAT	0.393													False	0	False	4:94547517	0	A	94547517	C	A	94547517	3	1	88	1	0	0	0	0	1	0	0	0	6819	565	20	3	2345	3	GRID2	4	94547517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203412	94547517	96606759	5314	13026											
ATOH1	474	broad.mit.edu	37	chr4	94750764	94750764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccaccgccgcctccagcCtcctgcaaaagcgaccacca	7	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94750764C>T	ENST00000306011.3	+	1	723	c.687C>T	c.(685-687)gcC>gcT	p.A229A		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	229					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CGCCTCCAGCCTCCTGCAAAA	0.647													False	0	False	4:94750764	0	T	94750764	C	T	94750764	2	4	88	1	0	0	0	0	0	0	0	1	1116	668	24	2		2	ATOH1	4	94750764	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203247	94750764	96403512	5315	13027											
SMARCAD1	56916	broad.mit.edu	37	chr4	95174129	95174129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctcagaagataacagaaCtccggccctttaatagttgg	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95174129C>T	ENST00000354268.4	+	9	1325	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L418F			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	418					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GATAACAGAACTCCGGCCCTT	0.383													False	0	False	4:95174129	0	T	95174129	C	T	95174129	3	4	88	1	0	0	0	0	1	0	0	0	14852	565	20	2	1282	2	SMARCAD1	4	95174129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423365	95174129	95980147	5316	13028											
SMARCAD1	56916	broad.mit.edu	37	chr4	95204434	95204434	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacaagcagaagatagatgCcatagagtaggccagactaa	10	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95204434C>A	ENST00000354268.4	+	22	2962	c.2889C>A	c.(2887-2889)tgC>tgA	p.C963*	SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.C533*|SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.C965*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	963	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAGATAGATGCCATAGAGTAG	0.338													False	0	False	4:95204434	0	A	95204434	C	A	95204434	4	1	88	1	0	0	0	0	0	1	0	0	14852	747	26	3	2977	3	SMARCAD1	4	95204434	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30305	95204434	95949842	5317	13029											
UNC5C	8633	broad.mit.edu	37	chr4	96104083	96104083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgagctggaagatctgccCttctccttccacctgccgca	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96104083C>T	ENST00000453304.1	-	14	2764	c.2416G>A	c.(2416-2418)Ggg>Agg	p.G806R		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	806					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAGATCTGCCCTTCTCCTTCC	0.522													False	0	True	4:96104083	0	T	96104083	C	T	96104083	3	4	88	1	0	0	0	0	1	0	0	0	17077	681	24	2	391	2	UNC5C	4	96104083	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	899649	96104083	95050193	5318	13030											
UNC5C	8633	broad.mit.edu	37	chr4	96106260	96106260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatatcgtgaattgacaggcGcaggttgtgggtgctgcctt	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96106260G>A	ENST00000453304.1	-	13	2572	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	742					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATTGACAGGCGCAGGTTGTGG	0.458													False	0	False	4:96106260	0	A	96106260	G	A	96106260	3	1	88	1	0	0	0	0	1	0	0	0	17077	1087	38	1	587	1	UNC5C	4	96106260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2177	96106260	95048016	5319	13031											
UNC5C	8633	broad.mit.edu	37	chr4	96140199	96140199	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatggatcagtctgccttgcTagactctggttcttcaggct	11	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96140199T>C	ENST00000453304.1	-	9	1914	c.1566A>G	c.(1564-1566)ctA>ctG	p.L522L	UNC5C_ENST00000506749.1_Silent_p.L541L	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	522					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTGCCTTGCTAGACTCTGGT	0.502													False	0	False	4:96140199	0	C	96140199	T	C	96140199	2	2	88	1	0	0	0	0	0	0	0	1	17077	1509	53	4		4	UNC5C	4	96140199	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33939	96140199	95014077	5320	13032											
UNC5C	8633	broad.mit.edu	37	chr4	96163599	96163599	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcatgcaaagcccatcAgtgcagttcttggattgcaa	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163599A>C	ENST00000453304.1	-	7	1437	c.1089T>G	c.(1087-1089)acT>acG	p.T363T	UNC5C_ENST00000506749.1_Silent_p.T363T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	363	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAAGCCCATCAGTGCAGTTCT	0.517													False	0	False	4:96163599	0	C	96163599	A	C	96163599	2	2	88	1	0	0	0	0	0	0	0	1	17077	175	7	4		4	UNC5C	4	96163599	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23400	96163599	94990677	5321	13033											
UNC5C	8633	broad.mit.edu	37	chr4	96163662	96163662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccattcttgggggctggCgccgtgcactccctcctgcg	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163662C>T	ENST00000453304.1	-	7	1374	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	UNC5C_ENST00000506749.1_Silent_p.A342A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	342	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGGGGCTGGCGCCGTGCACT	0.557													False	0	False	4:96163662	0	T	96163662	C	T	96163662	2	4	88	1	0	0	0	0	0	0	0	1	17077	755	27	1		1	UNC5C	4	96163662	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	96163662	94990614	5322	13034											
UNC5C	8633	broad.mit.edu	37	chr4	96163682	96163682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgtgcactccctcctgcGccagtgggtgcactcagttc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163682G>A	ENST00000453304.1	-	7	1354	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	UNC5C_ENST00000506749.1_Missense_Mutation_p.R336C	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	336	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCCTCCTGCGCCAGTGGGTG	0.587													False	0	False	4:96163682	0	A	96163682	G	A	96163682	3	1	88	1	0	0	0	0	1	0	0	0	17077	1087	38	1	1829	1	UNC5C	4	96163682	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	96163682	94990594	5323	13035											
PDHA2	5161	broad.mit.edu	37	chr4	96761415	96761415	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctacatttgaaattaagaaAtgtgatctttatctgttgga	8	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96761415A>G	ENST00000295266.4	+	1	177	c.114A>G	c.(112-114)aaA>aaG	p.K38K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	38					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AAATTAAGAAATGTGATCTTT	0.507													False	0	True	4:96761415	0	G	96761415	A	G	96761415	2	3	88	1	0	0	0	0	0	0	0	1	11733	98	4	4		4	PDHA2	4	96761415	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	597733	96761415	94392861	5324	13036											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99214651	99214651	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttggattgtctgcttcaaGccctggctcaaaatagtaag	10	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99214651G>T	ENST00000408927.3	+	2	210	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A34S|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A33S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	33							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TCTGCTTCAAGCCCTGGCTCA	0.358			T	NUP98	T-ALL								False	0	True	4:99214651	0	T	99214651	G	T	99214651	3	4	88	1	0	0	0	0	1	0	0	0	13118	971	34	3	106	3	RAP1GDS1	4	99214651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2453236	99214651	91939625	5325	13037											
EIF4E	1977	broad.mit.edu	37	chr4	99823032	99823032	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttagaaagcttacctgttCtgtaggggatgtttaatata	10	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99823032C>T	ENST00000450253.2	-	2	1644	c.120G>A	c.(118-120)caG>caA	p.Q40Q	EIF4E_ENST00000280892.6_Silent_p.Q60Q|EIF4E_ENST00000505992.1_Silent_p.Q40Q|EIF4E_ENST00000504432.1_Silent_p.Q68Q|EIF4E_ENST00000504472.1_5'UTR	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	40	EIF4EBP1/2/3 binding.				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		CTTACCTGTTCTGTAGGGGAT	0.423													False	0	False	4:99823032	0	T	99823032	C	T	99823032	2	4	88	1	0	0	0	0	0	0	0	1	5060	912	32	2		2	EIF4E	4	99823032	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	608381	99823032	91331244	5326	13038											
METAP1	23173	broad.mit.edu	37	chr4	99969935	99969935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacattatccagaagcatgCccaagcaaatgggttttcag	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99969935C>T	ENST00000296411.6	+	9	973	c.839C>T	c.(838-840)gCc>gTc	p.A280V	METAP1_ENST00000544031.1_Missense_Mutation_p.A230V	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	280					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CAGAAGCATGCCCAAGCAAAT	0.398													False	0	True	4:99969935	0	T	99969935	C	T	99969935	3	4	88	1	0	0	0	0	1	0	0	0	9553	739	26	2	873	2	METAP1	4	99969935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146903	99969935	91184341	5327	13039											
ADH5	128	broad.mit.edu	37	chr4	99997895	99997895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccataaccggttgaaatgCcacaacctagaaggcagact	8	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99997895C>T	ENST00000296412.8	-	5	574	c.524G>A	c.(523-525)gGc>gAc	p.G175D	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	175					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	GGTTGAAATGCCACAACCTAG	0.418													False	0	False	4:99997895	0	T	99997895	C	T	99997895	3	4	88	1	0	0	0	0	1	0	0	0	311	739	26	2	620	2	ADH5	4	99997895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27960	99997895	91156381	5328	13040											
ADH5	128	broad.mit.edu	37	chr4	99998042	99998042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagtaaatctgctggtaCcatctggcattaatcctttc	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99998042C>T	ENST00000296412.8	-	5	427	c.377G>A	c.(376-378)gGt>gAt	p.G126D	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	126					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	TCTGCTGGTACCATCTGGCAT	0.368													False	0	False	4:99998042	0	T	99998042	C	T	99998042	3	4	88	1	0	0	0	0	1	0	0	0	311	507	18	2	767	2	ADH5	4	99998042	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147	99998042	91156234	5329	13041											
ADH4	127	broad.mit.edu	37	chr4	100057801	100057801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcaggtaaacctgctgGttttgtcttccattagttgt	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100057801G>A	ENST00000508393.1	-	6	620	c.455C>T	c.(454-456)aCc>aTc	p.T152I	ADH4_ENST00000265512.7_Missense_Mutation_p.T133I|ADH4_ENST00000423445.1_Missense_Mutation_p.T152I|ADH4_ENST00000505590.1_Missense_Mutation_p.T152I|RP11-696N14.1_ENST00000500358.2_RNA			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	133					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	AAACCTGCTGGTTTTGTCTTC	0.338													False	0	True	4:100057801	0	A	100057801	G	A	100057801	3	1	88	1	0	0	0	0	1	0	0	0	310	1261	44	2	764	2	ADH4	4	100057801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59759	100057801	91096475	5330	13042											
ADH6	130	broad.mit.edu	37	chr4	100128629	100128629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagaacccttcaaagaaCgtcctgagaagaacaactgg	8	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100128629C>T	ENST00000394899.2	-	7	1031	c.938G>A	c.(937-939)cGt>cAt	p.R313H	ADH6_ENST00000394897.1_Intron|ADH6_ENST00000237653.7_Missense_Mutation_p.R313H|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.R104H	NM_001102470.1	NP_001095940	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	313					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CTTCAAAGAACGTCCTGAGAA	0.483													False	0	False	4:100128629	0	T	100128629	C	T	100128629	3	4	88	1	0	0	0	0	1	0	0	0	312	536	19	1	205	1	ADH6	4	100128629	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70828	100128629	91025647	5331	13043											
ADH6	130	broad.mit.edu	37	chr4	100140355	100140355	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttattgagaaagggagatcCtgtagcaactttcactgtag	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100140355C>A	ENST00000394897.1	-	0	37				ADH6_ENST00000237653.7_De_novo_Start_OutOfFrame|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_De_novo_Start_OutOfFrame			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)						ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	AAGGGAGATCCTGTAGCAACT	0.418													False	0	False	4:100140355	0	A	100140355	C	A	100140355	1	1	88	1	0	0	0	0	0	0	0	0	312	696	24	3		3	ADH6	4	100140355	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11726	100140355	91013921	5332	13044											
ADH1A	124	broad.mit.edu	37	chr4	100205930	100205930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaattctgcattttccacacTgaggaatagcgagtgggatg	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100205930T>C	ENST00000209668.2	-	4	403	c.290A>G	c.(289-291)cAg>cGg	p.Q97R	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	97					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TTTTCCACACTGAGGAATAGC	0.403													False	0	False	4:100205930	0	C	100205930	T	C	100205930	3	2	88	1	0	0	0	0	1	0	0	0	307	1580	55	4	861	4	ADH1A	4	100205930	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65575	100205930	90948346	5333	13045											
ADH1A	124	broad.mit.edu	37	chr4	100208091	100208091	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatcacaggaagtggggtcaCcatggtaccactaaccacgt	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100208091C>A	ENST00000209668.2	-	3	288	c.175G>T	c.(175-177)Gtg>Ttg	p.V59L	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	59					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	AGTGGGGTCACCATGGTACCA	0.488													False	0	False	4:100208091	0	A	100208091	C	A	100208091	3	1	88	1	0	0	0	0	1	0	0	0	307	507	18	3	980	3	ADH1A	4	100208091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2161	100208091	90946185	5334	13046											
ADH1B	125	broad.mit.edu	37	chr4	100231991	100231991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaacatgggttattaacGcatccagtgaaaacttctta	7	7	1	1	rs147811380		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100231991G>A	ENST00000305046.8	-	8	1101	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	ADH1B_ENST00000394887.3_Missense_Mutation_p.A305V			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	345					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGTTATTAACGCATCCAGTGA	0.343													False	0	False	4:100231991	0	A	100231991	G	A	100231991	3	1	88	1	0	0	0	0	1	0	0	0	308	1087	38	1	101	1	ADH1B	4	100231991	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23900	100231991	90922285	5335	13047											
ADH1B	125	broad.mit.edu	37	chr4	100232703	100232703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacagcccccttccaggtGcgtccagtcagtagcagcat	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100232703G>A	ENST00000305046.8	-	7	1006	c.939C>T	c.(937-939)cgC>cgT	p.R313R	ADH1B_ENST00000394887.3_Silent_p.R273R			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	313					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCTTCCAGGTGCGTCCAGTCA	0.438													False	0	False	4:100232703	0	A	100232703	G	A	100232703	2	1	88	1	0	0	0	0	0	0	0	1	308	1306	46	2		2	ADH1B	4	100232703	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	712	100232703	90921573	5336	13048											
ADH7	131	broad.mit.edu	37	chr4	100341725	100341725	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaataacttcaaaggtgtAtcccacgttgttgcctgtca	7	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100341725A>G	ENST00000437033.2	-	6	1293	c.790T>C	c.(790-792)Tac>Cac	p.Y264H	ADH7_ENST00000476959.1_Missense_Mutation_p.Y284H|ADH7_ENST00000209665.4_Missense_Mutation_p.Y276H|ADH7_ENST00000482593.1_Missense_Mutation_p.Y207H			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	276					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TCAAAGGTGTATCCCACGTTG	0.443													False	0	False	4:100341725	0	G	100341725	A	G	100341725	3	3	88	1	0	0	0	0	1	0	0	0	313	449	16	4	350	4	ADH7	4	100341725	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	109022	100341725	90812551	5337	13049											
ADH7	131	broad.mit.edu	37	chr4	100341936	100341936	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccaaagacgacgcaagtGgaaccaggtttgacctgtgg	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100341936G>T	ENST00000437033.2	-	6	1082	c.579C>A	c.(577-579)tcC>tcA	p.S193S	ADH7_ENST00000476959.1_Silent_p.S213S|ADH7_ENST00000209665.4_Silent_p.S205S|ADH7_ENST00000482593.1_Silent_p.S136S			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	205					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CGACGCAAGTGGAACCAGGTT	0.473													False	0	False	4:100341936	0	T	100341936	G	T	100341936	2	4	88	1	0	0	0	0	0	0	0	1	313	1335	47	3		3	ADH7	4	100341936	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	211	100341936	90812340	5338	13050											
ADH7	131	broad.mit.edu	37	chr4	100349696	100349696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgctctctacaatcccaGttgcctcatgtcccacaatc	4	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100349696G>A	ENST00000437033.2	-	3	715	c.212C>T	c.(211-213)aCt>aTt	p.T71I	ADH7_ENST00000476959.1_Missense_Mutation_p.T91I|ADH7_ENST00000209665.4_Missense_Mutation_p.T83I|ADH7_ENST00000482593.1_Missense_Mutation_p.T14I			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	83					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TACAATCCCAGTTGCCTCATG	0.433													False	0	False	4:100349696	0	A	100349696	G	A	100349696	3	1	88	1	0	0	0	0	1	0	0	0	313	1029	36	2	940	2	ADH7	4	100349696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7760	100349696	90804580	5339	13051											
ADH7	131	broad.mit.edu	37	chr4	100349765	100349765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcacatggtcatctgtgCgacagattcctgtggccaaa	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100349765C>T	ENST00000437033.2	-	3	646	c.143G>A	c.(142-144)cGc>cAc	p.R48H	ADH7_ENST00000476959.1_Missense_Mutation_p.R68H|ADH7_ENST00000209665.4_Missense_Mutation_p.R60H|ADH7_ENST00000482593.1_5'UTR			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	60					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GTCATCTGTGCGACAGATTCC	0.413													False	0	False	4:100349765	0	T	100349765	C	T	100349765	3	4	88	1	0	0	0	0	1	0	0	0	313	768	27	1	1009	1	ADH7	4	100349765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	100349765	90804511	5340	13052											
DAPP1	27071	broad.mit.edu	37	chr4	100761522	100761522	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttggctttaatgaattctcaTctttgaaggattttgtcaag	8	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100761522T>A	ENST00000296414.7	+	3	382	c.301T>A	c.(301-303)Tct>Act	p.S101T	DAPP1_ENST00000512369.1_Missense_Mutation_p.S101T			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	101	SH2.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TGAATTCTCATCTTTGAAGGA	0.333													False	0	False	4:100761522	0	A	100761522	T	A	100761522	3	1	88	1	0	0	0	0	1	0	0	0	4264	1435	50	5	311	5	DAPP1	4	100761522	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	411757	100761522	90392754	5341	13053											
H2AFZ	3015	broad.mit.edu	37	chr4	100870520	100870520	+	Silent	SNP	T	T	C													gtcgtcctagattttaggtgTcgatgaatacggcccactgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870520T>C	ENST00000296417.5	-	3	322	c.105A>G	c.(103-105)cgA>cgG	p.R35R	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	35					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		ATTTTAGGTGTCGATGAATAC	0.483											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	4:100870520	0	C	100870520	T	C	100870520	2	2	88	1	0	0	0	0	0	0	0	1	6978	1654	58	4		4	H2AFZ	4	100870520	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108998	100870520	90283756	5342	13054	172	2									
H2AFZ	3015	broad.mit.edu	37	chr4	100870530	100870530	+	Missense_Mutation	SNP	C	C	T													attttaggtgtcgatgaataCggcccactgggaacttaaat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870530C>T	ENST00000296417.5	-	3	312	c.95G>A	c.(94-96)cGt>cAt	p.R32H	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	32					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		TCGATGAATACGGCCCACTGG	0.498											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	4:100870530	0	T	100870530	C	T	100870530	3	4	88	1	0	0	0	0	1	0	0	0	6978	536	19	1	303	1	H2AFZ	4	100870530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	100870530	90283746	5343	13055	172	2									
H2AFZ	3015	broad.mit.edu	37	chr4	100870869	100870869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcctttgtcttggcctttCcggagtcctttccagcctta	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870869C>T	ENST00000296417.5	-	2	249	c.32G>A	c.(31-33)gGa>gAa	p.G11E	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	11	Required for interaction with INCENP (By similarity).				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTTGGCCTTTCCGGAGTCCTT	0.587													False	0	True	4:100870869	0	T	100870869	C	T	100870869	3	4	88	1	0	0	0	0	1	0	0	0	6978	855	30	2	370	2	H2AFZ	4	100870869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339	100870869	90283407	5344	13056											
PPP3CA	5530	broad.mit.edu	37	chr4	101947056	101947056	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctattactgccattgctgTccgtgccgttagtctctgag	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:101947056T>C	ENST00000394854.3	-	14	2215	c.1532A>G	c.(1531-1533)gAc>gGc	p.D511G	PPP3CA_ENST00000507176.1_Missense_Mutation_p.D413G|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D501G|PPP3CA_ENST00000512215.1_Missense_Mutation_p.D279G|PPP3CA_ENST00000323055.6_Missense_Mutation_p.D459G|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D444G	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	511					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCCATTGCTGTCCGTGCCGTT	0.458													False	0	False	4:101947056	0	C	101947056	T	C	101947056	3	2	88	1	0	0	0	0	1	0	0	0	12471	1667	58	4	37	4	PPP3CA	4	101947056	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1076187	101947056	89207220	5345	13057											
PPP3CA	5530	broad.mit.edu	37	chr4	102117166	102117166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgcaacactctcttccaGccttccctccttcataagat	3	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:102117166G>A	ENST00000394854.3	-	2	849	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000394853.4_Silent_p.L56L|PPP3CA_ENST00000512215.1_Silent_p.L56L|PPP3CA_ENST00000323055.6_Silent_p.L56L|PPP3CA_ENST00000523694.2_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	56	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTCTCTTCCAGCCTTCCCTCC	0.423													False	0	False	4:102117166	0	A	102117166	G	A	102117166	2	1	88	1	0	0	0	0	0	0	0	1	12471	962	34	2		2	PPP3CA	4	102117166	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170110	102117166	89037110	5346	13058											
BANK1	55024	broad.mit.edu	37	chr4	102751340	102751340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgaagactacatctctgTaatccagagtatcatattca	5	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:102751340T>C	ENST00000504592.1	+	6	819	c.401T>C	c.(400-402)gTa>gCa	p.V134A	BANK1_ENST00000508653.1_Intron|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.V119A|BANK1_ENST00000322953.4_Missense_Mutation_p.V149A			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	149	Interaction with ITPR2.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TACATCTCTGTAATCCAGAGT	0.323													False	0	False	4:102751340	0	C	102751340	T	C	102751340	3	2	88	1	0	0	0	0	1	0	0	0	1313	1638	57	4	452	4	BANK1	4	102751340	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	634174	102751340	88402936	5347	13059											
NFKB1	4790	broad.mit.edu	37	chr4	103534584	103534584	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcctttctttctcacaggtCtctgggggtacagtcagaga	10	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103534584C>A	ENST00000226574.4	+	23	3062	c.2595C>A	c.(2593-2595)gtC>gtA	p.V865V	NFKB1_ENST00000505458.1_Silent_p.V864V|NFKB1_ENST00000600343.1_Silent_p.V684V|NFKB1_ENST00000394820.4_Silent_p.V864V	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	864	Death.|Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCTCACAGGTCTCTGGGGGTA	0.557													False	0	False	4:103534584	0	A	103534584	C	A	103534584	2	1	88	1	0	0	0	0	0	0	0	1	10443	900	32	3		3	NFKB1	4	103534584	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	783244	103534584	87619692	5348	13060											
MANBA	4126	broad.mit.edu	37	chr4	103611867	103611867	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcacttgaccaccaactggCtttgagctgacaacatcaaa	6	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103611867C>A	ENST00000226578.4	-	6	834	c.735G>T	c.(733-735)aaG>aaT	p.K245N	MANBA_ENST00000505239.1_Missense_Mutation_p.K188N	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	245					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CACCAACTGGCTTTGAGCTGA	0.363													False	0	True	4:103611867	0	A	103611867	C	A	103611867	3	1	88	1	0	0	0	0	1	0	0	0	9286	796	28	3	1952	3	MANBA	4	103611867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77283	103611867	87542409	5349	13061											
BDH2	56898	broad.mit.edu	37	chr4	104003289	104003289	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctatttcttctgcagttgcGaatcttcccgtcttttgtct	7	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104003289G>A	ENST00000296424.4	-	9	753	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	211					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	p.F211F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		CTGCAGTTGCGAATCTTCCCG	0.463													False	0	False	4:104003289	0	A	104003289	G	A	104003289	2	1	88	1	0	0	0	0	0	0	0	1	1395	1049	37	1		1	BDH2	4	104003289	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	391422	104003289	87150987	5350	13062											
CENPE	1062	broad.mit.edu	37	chr4	104041484	104041484	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgaattttccagctctcGaattttctattagaaaaagc	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104041484G>A	ENST00000265148.3	-	44	7239	c.7150C>T	c.(7150-7152)Cga>Tga	p.R2384*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.R2263*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2384	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCAGCTCTCGAATTTTCTAT	0.328													False	0	False	4:104041484	0	A	104041484	G	A	104041484	4	1	88	1	0	0	0	0	0	1	0	0	3253	1066	37	1	979	1	CENPE	4	104041484	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38195	104041484	87112792	5351	13063											
CENPE	1062	broad.mit.edu	37	chr4	104074400	104074400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcctgttttttatctatgCcaaccatctaaaacataaac	2	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104074400C>T	ENST00000265148.3	-	25	3130	c.3041G>A	c.(3040-3042)gGc>gAc	p.G1014D	CENPE_ENST00000380026.3_Missense_Mutation_p.G989D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1014					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTATCTATGCCAACCATCTA	0.289													False	0	False	4:104074400	0	T	104074400	C	T	104074400	3	4	88	1	0	0	0	0	1	0	0	0	3253	739	26	2	5164	2	CENPE	4	104074400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32916	104074400	87079876	5352	13064											
TACR3	6870	broad.mit.edu	37	chr4	104577398	104577398	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacttgtcacaggtatctcCtgggatttctcctccccaga	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104577398C>A	ENST00000304883.2	-	3	981	c.841G>T	c.(841-843)Gga>Tga	p.G281*		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	281						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CAGGTATCTCCTGGGATTTCT	0.403													False	0	False	4:104577398	0	A	104577398	C	A	104577398	4	1	88	1	0	0	0	0	0	1	0	0	15589	690	24	3	568	3	TACR3	4	104577398	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	502998	104577398	86576878	5353	13065											
CXXC4	80319	broad.mit.edu	37	chr4	105412215	105412215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtcatgacgatgacccctgGaggtaatgagatgcccccta	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:105412215G>A	ENST00000394767.2	-	2	1195	c.745C>T	c.(745-747)Cca>Tca	p.P249S	CXXC4_ENST00000426831.1_Missense_Mutation_p.P80S|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	80					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		ATGACCCCTGGAGGTAATGAG	0.577													False	0	False	4:105412215	0	A	105412215	G	A	105412215	3	1	88	1	0	0	0	0	1	0	0	0	4123	1174	41	2	366	2	CXXC4	4	105412215	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	834817	105412215	85742061	5354	13066											
TET2	54790	broad.mit.edu	37	chr4	106155474	106155474	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatggagaaagacgtaacttCggggtaagccaagaaagaaa	12	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106155474C>T	ENST00000513237.1	+	3	1235	c.438C>T	c.(436-438)ttC>ttT	p.F146F	TET2_ENST00000394764.1_Silent_p.F125F|TET2_ENST00000540549.1_Silent_p.F125F|TET2_ENST00000305737.2_Silent_p.F125F|TET2_ENST00000380013.4_Silent_p.F125F|TET2_ENST00000545826.1_Silent_p.F125F|TET2_ENST00000413648.2_Silent_p.F125F			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	125					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.F125fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GACGTAACTTCGGGGTAAGCC	0.418			"Mis N, F"		MDS								False	0	True	4:106155474	0	T	106155474	C	T	106155474	2	4	88	1	0	0	0	0	0	0	0	1	15852	883	31	1		1	TET2	4	106155474	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	743259	106155474	84998802	5355	13067											
TET2	54790	broad.mit.edu	37	chr4	106156867	106156867	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggcatcactgccatcaattCttcagtatcaacccaatctc	4	14	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106156867C>A	ENST00000513237.1	+	3	2628	c.1831C>A	c.(1831-1833)Ctt>Att	p.L611I	TET2_ENST00000394764.1_Missense_Mutation_p.L590I|TET2_ENST00000540549.1_Missense_Mutation_p.L590I|TET2_ENST00000305737.2_Missense_Mutation_p.L590I|TET2_ENST00000380013.4_Missense_Mutation_p.L590I|TET2_ENST00000545826.1_Missense_Mutation_p.L590I|TET2_ENST00000413648.2_Missense_Mutation_p.L590I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	590	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GCCATCAATTCTTCAGTATCA	0.463			"Mis N, F"		MDS								False	0	False	4:106156867	0	A	106156867	C	A	106156867	3	1	88	1	0	0	0	0	1	0	0	0	15852	913	32	3	1770	3	TET2	4	106156867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1393	106156867	84997409	5356	13068											
GSTCD	79807	broad.mit.edu	37	chr4	106640301	106640301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcttctgaccagcccccaActatacctgtagaaatacta	4	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106640301A>G	ENST00000515279.1	+	3	731	c.511A>G	c.(511-513)Act>Gct	p.T171A	GSTCD_ENST00000507281.1_Missense_Mutation_p.T84A|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Missense_Mutation_p.T84A|GSTCD_ENST00000394728.3_Missense_Mutation_p.T171A|GSTCD_ENST00000360505.5_Missense_Mutation_p.T171A			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	171	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CCAGCCCCCAACTATACCTGT	0.423													False	0	False	4:106640301	0	G	106640301	A	G	106640301	3	3	88	1	0	0	0	0	1	0	0	0	6882	43	2	4	517	4	GSTCD	4	106640301	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	483434	106640301	84513975	5357	13069											
GSTCD	79807	broad.mit.edu	37	chr4	106640462	106640462	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagcaaggtccacacacaGgaaacatctgaagggttgga	12	8	1	2	rs145276245		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106640462G>T	ENST00000515279.1	+	3	892	c.672G>T	c.(670-672)caG>caT	p.Q224H	GSTCD_ENST00000507281.1_Missense_Mutation_p.Q137H|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Missense_Mutation_p.Q137H|GSTCD_ENST00000394728.3_Missense_Mutation_p.Q224H|GSTCD_ENST00000360505.5_Missense_Mutation_p.Q224H			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	224	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TCCACACACAGGAAACATCTG	0.483													False	0	True	4:106640462	0	T	106640462	G	T	106640462	3	4	88	1	0	0	0	0	1	0	0	0	6882	991	35	3	678	3	GSTCD	4	106640462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	106640462	84513814	5358	13070											
NPNT	255743	broad.mit.edu	37	chr4	106858269	106858269	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggatatatgctcatgccGgatggttcctgctcaagtat	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106858269G>A	ENST00000379987.2	+	4	585	c.369G>A	c.(367-369)ccG>ccA	p.P123P	NPNT_ENST00000453617.2_Silent_p.P140P|NPNT_ENST00000427316.2_Silent_p.P153P|NPNT_ENST00000305572.8_Silent_p.P123P|NPNT_ENST00000506666.1_Silent_p.P153P|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000514622.1_Silent_p.P123P	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	123	EGF-like 2; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGCTCATGCCGGATGGTTCCT	0.468													False	0	False	4:106858269	0	A	106858269	G	A	106858269	2	1	88	1	0	0	0	0	0	0	0	1	10658	1103	39	1		1	NPNT	4	106858269	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217807	106858269	84296007	5359	13071											
TBCK	93627	broad.mit.edu	37	chr4	107170109	107170109	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacaaccatgctcttcaGccagaactattaaagtgtca	5	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:107170109G>T	ENST00000273980.5	-	9	1136	c.689C>A	c.(688-690)gCt>gAt	p.A230D	TBCK_ENST00000361687.4_Missense_Mutation_p.A167D|TBCK_ENST00000394708.2_Missense_Mutation_p.A230D|TBCK_ENST00000394706.3_Missense_Mutation_p.A191D|TBCK_ENST00000432496.2_Missense_Mutation_p.A230D			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase		Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATGCTCTTCAGCCAGAACTAT	0.313													False	0	False	4:107170109	0	T	107170109	G	T	107170109	3	4	88	1	0	0	0	0	1	0	0	0	15718	971	34	3	2068	3	TBCK	4	107170109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311840	107170109	83984167	5360	13072											
AIMP1	9255	broad.mit.edu	37	chr4	107249377	107249377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggagacgaaaagaaagCgaaagagaaaattgaaaaga	11	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:107249377C>T	ENST00000394701.4	+	4	481	c.440C>T	c.(439-441)gCg>gTg	p.A147V	AIMP1_ENST00000358008.3_Missense_Mutation_p.A123V|AIMP1_ENST00000442366.1_Missense_Mutation_p.A123V	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	123	Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						GAAAAGAAAGCGAAAGAGAAA	0.328													False	0	True	4:107249377	0	T	107249377	C	T	107249377	3	4	88	1	0	0	0	0	1	0	0	0	433	768	27	1	454	1	AIMP1	4	107249377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79268	107249377	83904899	5361	13073											
PAPSS1	9061	broad.mit.edu	37	chr4	108535481	108535481	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaaaccttcaggtggtTtctggccttctcgagcaagt	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108535481T>G	ENST00000265174.4	-	12	2071	c.1799A>C	c.(1798-1800)aAa>aCa	p.K600T		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	600					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TTCAGGTGGTTTCTGGCCTTC	0.423													False	0	True	4:108535481	0	G	108535481	T	G	108535481	3	3	88	1	0	0	0	0	1	0	0	0	11502	1841	64	4	79	4	PAPSS1	4	108535481	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1286104	108535481	82618795	5362	13074											
PAPSS1	9061	broad.mit.edu	37	chr4	108615089	108615089	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcaccatccagagtgtaGcatggaataccatgacaaac	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108615089G>T	ENST00000265174.4	-	3	521	c.249C>A	c.(247-249)tgC>tgA	p.C83*	PAPSS1_ENST00000511304.1_Intron	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	83					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCAGAGTGTAGCATGGAATAC	0.443													False	0	False	4:108615089	0	T	108615089	G	T	108615089	4	4	88	1	0	0	0	0	0	1	0	0	11502	963	34	3	1665	3	PAPSS1	4	108615089	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79608	108615089	82539187	5363	13075											
CYP2U1	113612	broad.mit.edu	37	chr4	108866490	108866490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccctttggaccatttaaGgaattaagacaaattgaaaa	6	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108866490G>T	ENST00000332884.6	+	2	1130	c.855G>T	c.(853-855)aaG>aaT	p.K285N	CYP2U1_ENST00000508453.1_Missense_Mutation_p.K76N|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	285					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GACCATTTAAGGAATTAAGAC	0.393													False	0	False	4:108866490	0	T	108866490	G	T	108866490	3	4	88	1	0	0	0	0	1	0	0	0	4200	991	35	3	861	3	CYP2U1	4	108866490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	251401	108866490	82287786	5364	13076											
LEF1	51176	broad.mit.edu	37	chr4	109010379	109010379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggtgagaggatggaccGcatgggatggctgcaccacg	20	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109010379G>A	ENST00000379951.2	-	4	1637	c.449C>T	c.(448-450)gCg>gTg	p.A150V	LEF1_ENST00000510624.1_Missense_Mutation_p.A82V|LEF1_ENST00000438313.2_Missense_Mutation_p.A150V|LEF1_ENST00000512172.1_Missense_Mutation_p.A82V|LEF1_ENST00000265165.1_Missense_Mutation_p.A150V	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	150	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGGATGGACCGCATGGGATGG	0.493													False	0	False	4:109010379	0	A	109010379	G	A	109010379	3	1	88	1	0	0	0	0	1	0	0	0	8765	1087	38	1	866	1	LEF1	4	109010379	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143889	109010379	82143897	5365	13077											
RPL34	6164	broad.mit.edu	37	chr4	109546294	109546294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttctaggatcaagcgtGctttccttatcgaggagcag	10	10	2	0	rs148986705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109546294G>A	ENST00000394668.2	+	5	346	c.280G>A	c.(280-282)Gct>Act	p.A94T	RPL34_ENST00000506397.1_Missense_Mutation_p.A94T|RPL34_ENST00000394667.3_Missense_Mutation_p.A94T|RPL34_ENST00000502534.1_Missense_Mutation_p.A94T|RPL34_ENST00000394665.1_Missense_Mutation_p.A94T	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	94					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		GATCAAGCGTGCTTTCCTTAT	0.323													False	0	False	4:109546294	0	A	109546294	G	A	109546294	3	1	88	1	0	0	0	0	1	0	0	0	13662	1319	46	2	294	2	RPL34	4	109546294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	535915	109546294	81607982	5366	13078											
COL25A1	84570	broad.mit.edu	37	chr4	109769940	109769940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctccatccattcctgggattCctggagatccctgctctccc	7	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109769940C>A	ENST00000399132.1	-	27	1939	c.1409G>T	c.(1408-1410)gGa>gTa	p.G470V	COL25A1_ENST00000399126.1_Missense_Mutation_p.G470V|COL25A1_ENST00000399127.1_Missense_Mutation_p.G443V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	470	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCCTGGGATTCCTGGAGATCC	0.353													False	0	False	4:109769940	0	A	109769940	C	A	109769940	3	1	88	1	0	0	0	0	1	0	0	0	3707	855	30	3	687	3	COL25A1	4	109769940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	223646	109769940	81384336	5367	13079											
COL25A1	84570	broad.mit.edu	37	chr4	109773399	109773399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataaagaataacctttggcCcttgtagtccttgaggtcca	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109773399C>T	ENST00000399132.1	-	26	1912	c.1382G>A	c.(1381-1383)gGg>gAg	p.G461E	COL25A1_ENST00000399126.1_Missense_Mutation_p.G461E|COL25A1_ENST00000399127.1_Missense_Mutation_p.G434E	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	461	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AACCTTTGGCCCTTGTAGTCC	0.338													False	0	True	4:109773399	0	T	109773399	C	T	109773399	3	4	88	1	0	0	0	0	1	0	0	0	3707	623	22	2	718	2	COL25A1	4	109773399	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3459	109773399	81380877	5368	13080											
SEC24B	10427	broad.mit.edu	37	chr4	110452568	110452568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagaacgggtacaagcacaCggctggatgatcgtgtatat	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110452568C>T	ENST00000265175.5	+	20	3335	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W	SEC24B_ENST00000399100.2_Missense_Mutation_p.R1059W|SEC24B_ENST00000504968.2_Missense_Mutation_p.R1124W	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1094					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TACAAGCACACGGCTGGATGA	0.343													False	0	False	4:110452568	0	T	110452568	C	T	110452568	3	4	88	1	0	0	0	0	1	0	0	0	14076	527	19	1	3358	1	SEC24B	4	110452568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	679169	110452568	80701708	5369	13081											
CCDC109B	55013	broad.mit.edu	37	chr4	110606512	110606513	+	Frame_Shift_Ins	INS	-	-	GCAGATGAATGAGTGAAAT													atacaacaagttaaaagaagINSaccttgctaaggtatactac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110606512_110606513insGCAGATGAATGAGTGAAAT	ENST00000394650.4	+	7	1055_1056	c.922_923insGCAGATGAATGAGTGAAAT	c.(922-924)gacfs	p.D308fs		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	308						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		GTTAAAAGAAGACCTTGCTAAG	0.381													False	0	False	4:110606512	0	GCAGATGAATGAGTGAAAT	110606513	-	GCAGATGAATGAGTGAAAT	110606512	7	5	88	1	0	1	1	0	0	0	0	0	2765	942	33	0	948	0	CCDC109B	4	110606512	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	153944	110606512	80547764	5370	13082	173	2									
CCDC109B	55013	broad.mit.edu	37	chr4	110606514	110606515	+	Frame_Shift_Del	DEL	CC	CC	-													tacaacaagttaaaagaagaCcttgctaaggtatactacaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110606514_110606515delCC	ENST00000394650.4	+	7	1057_1058	c.924_925delCC	c.(922-927)gaccttfs	p.L309fs		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	309						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		TAAAAGAAGACCTTGCTAAGGT	0.381													False	2	False	4:110606514	0	-	110606515	CC	-	110606514	7	5	88	1	0	1	0	1	0	0	0	0	2765	506	18	0	950	0	CCDC109B	4	110606514	Frame_Shift_Del	DEL	CC	TCGA-IB-7651-01A-11D-2154-08	2	110606514	80547762	5371	13083	173	2									
PLA2G12A	81579	broad.mit.edu	37	chr4	110639872	110639872	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtggagagccacatccattCggtggggagggtttataacc	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110639872C>T	ENST00000243501.5	-	2	519	c.252G>A	c.(250-252)ccG>ccA	p.P84P	PLA2G12A_ENST00000502283.1_Silent_p.P84P|PLA2G12A_ENST00000502772.1_5'UTR	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	84					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		CACATCCATTCGGTGGGGAGG	0.299													False	0	False	4:110639872	0	T	110639872	C	T	110639872	2	4	88	1	0	0	0	0	0	0	0	1	12059	871	31	1		1	PLA2G12A	4	110639872	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33358	110639872	80514404	5372	13084											
CFI	3426	broad.mit.edu	37	chr4	110662246	110662246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagtcccctttacaggcatCgatggaaccatcatatgtac	8	11	1	1	rs121964918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110662246C>T	ENST00000394634.2	-	13	1762	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	CFI_ENST00000394635.3_Missense_Mutation_p.D527N|CFI_ENST00000512148.1_Missense_Mutation_p.D512N	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	519	Peptidase S1.		D -> N (in AHUS3).		complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTACAGGCATCGATGGAACCA	0.448													False	0	False	4:110662246	0	T	110662246	C	T	110662246	3	4	88	1	0	0	0	0	1	0	0	0	3312	884	31	1	200	1	CFI	4	110662246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22374	110662246	80492030	5373	13085											
CFI	3426	broad.mit.edu	37	chr4	110667516	110667516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttttcatttcaatcaaagCgatgtcattttggtaagtgc	7	6	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110667516C>T	ENST00000394634.2	-	11	1498	c.1291G>A	c.(1291-1293)Gct>Act	p.A431T	CFI_ENST00000394635.3_Missense_Mutation_p.A439T|CFI_ENST00000512148.1_Missense_Mutation_p.A424T	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	431	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCAATCAAAGCGATGTCATTT	0.408													False	0	False	4:110667516	0	T	110667516	C	T	110667516	3	4	88	1	0	0	0	0	1	0	0	0	3312	768	27	1	472	1	CFI	4	110667516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5270	110667516	80486760	5374	13086											
LRIT3	345193	broad.mit.edu	37	chr4	110791066	110791067	+	In_Frame_Ins	INS	-	-	AAGAAA													gcgcatcatcatatctttggINStcctcttccttctcccccac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791066_110791067insAAGAAA	ENST00000327908.3	+	4	1376_1377	c.612_613insAAGAAA	c.(613-615)tcc>AAGAAAtcc	p.204_205insKK	LRIT3_ENST00000594814.1_In_Frame_Ins_p.387_388insKK|LRIT3_ENST00000409621.2_In_Frame_Ins_p.204_205insKK|LRIT3_ENST00000379920.3_In_Frame_Ins_p.342_343insKK			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	342	LRRCT.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CATATCTTTGGtcctcttcctt	0.47													False	0	False	4:110791066	0	AAGAAA	110791067	-	AAGAAA	110791066	7	5	88	1	0	1	1	0	0	0	0	0	9011	1270	44	0	1036	0	LRIT3	4	110791066	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	123550	110791066	80363210	5375	13087											
LRIT3	345193	broad.mit.edu	37	chr4	110791482	110791482	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccaagtatggtgggaaggAcctgctgctgttgaatgcag	14	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791482A>G	ENST00000327908.3	+	4	1792	c.1028A>G	c.(1027-1029)gAc>gGc	p.D343G	LRIT3_ENST00000379920.3_Missense_Mutation_p.D481G|LRIT3_ENST00000409621.2_Missense_Mutation_p.D343G|LRIT3_ENST00000594814.1_Missense_Mutation_p.D526G			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	481	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GGTGGGAAGGACCTGCTGCTG	0.478													False	0	False	4:110791482	0	G	110791482	A	G	110791482	3	3	88	1	0	0	0	0	1	0	0	0	9011	275	10	4	1452	4	LRIT3	4	110791482	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	416	110791482	80362794	5376	13088											
LRIT3	345193	broad.mit.edu	37	chr4	110791701	110791701	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttatcttaccattgaTttgtttcttgttgtacaaag	7	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791701T>G	ENST00000327908.3	+	4	2011	c.1247T>G	c.(1246-1248)aTt>aGt	p.I416S	LRIT3_ENST00000379920.3_Missense_Mutation_p.I554S|LRIT3_ENST00000409621.2_Missense_Mutation_p.I416S|LRIT3_ENST00000594814.1_Missense_Mutation_p.I599S			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	554						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TTACCATTGATTTGTTTCTTG	0.393													False	0	True	4:110791701	0	G	110791701	T	G	110791701	3	3	88	1	0	0	0	0	1	0	0	0	9011	1493	52	4	1671	4	LRIT3	4	110791701	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	219	110791701	80362575	5377	13089											
EGF	1950	broad.mit.edu	37	chr4	110864531	110864531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatatgaaaggaaataattCccacattcttttaagtgctt	6	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110864531C>T	ENST00000265171.5	+	3	894	c.449C>T	c.(448-450)tCc>tTc	p.S150F	EGF_ENST00000503392.1_Missense_Mutation_p.S150F|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000509793.1_Missense_Mutation_p.S150F	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	150					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGAAATAATTCCCACATTCTT	0.303													False	0	True	4:110864531	0	T	110864531	C	T	110864531	3	4	88	1	0	0	0	0	1	0	0	0	4992	855	30	2	459	2	EGF	4	110864531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72830	110864531	80289745	5378	13090											
EGF	1950	broad.mit.edu	37	chr4	110897320	110897320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagttgtactggtgcgatgCcaagcagtctgtgattgaaa	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110897320C>T	ENST00000265171.5	+	13	2427	c.1982C>T	c.(1981-1983)gCc>gTc	p.A661V	EGF_ENST00000503392.1_Missense_Mutation_p.A661V|EGF_ENST00000509793.1_Missense_Mutation_p.A619V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	661					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGGTGCGATGCCAAGCAGTCT	0.478													False	0	False	4:110897320	0	T	110897320	C	T	110897320	3	4	88	1	0	0	0	0	1	0	0	0	4992	739	26	2	2032	2	EGF	4	110897320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32789	110897320	80256956	5379	13091											
ELOVL6	79071	broad.mit.edu	37	chr4	110972708	110972708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacaaggtgatgaacatgGcaaacttccgggagactcgg	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110972708G>A	ENST00000394607.3	-	5	747	c.584C>T	c.(583-585)gCc>gTc	p.A195V	ELOVL6_ENST00000302274.3_Missense_Mutation_p.A195V			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	195					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GATGAACATGGCAAACTTCCG	0.537													False	0	False	4:110972708	0	A	110972708	G	A	110972708	3	1	88	1	0	0	0	0	1	0	0	0	5110	1203	42	2	217	2	ELOVL6	4	110972708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75388	110972708	80181568	5380	13092											
ENPEP	2028	broad.mit.edu	37	chr4	111397683	111397683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatagtgggacttgccgtggGcttgaccagatcgtgtgact	14	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111397683G>A	ENST00000265162.5	+	1	455	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	38					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTTGCCGTGGGCTTGACCAGA	0.602													False	0	True	4:111397683	0	A	111397683	G	A	111397683	3	1	88	1	0	0	0	0	1	0	0	0	5160	1203	42	2	115	2	ENPEP	4	111397683	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	424975	111397683	79756593	5381	13093											
ENPEP	2028	broad.mit.edu	37	chr4	111431456	111431456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agacttgtggctaaatgaagGatttgcttctttctttgagt	10	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111431456G>A	ENST00000265162.5	+	6	1592	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	417					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTAAATGAAGGATTTGCTTCT	0.368													False	0	False	4:111431456	0	A	111431456	G	A	111431456	3	1	88	1	0	0	0	0	1	0	0	0	5160	1174	41	2	1272	2	ENPEP	4	111431456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33773	111431456	79722820	5382	13094											
ENPEP	2028	broad.mit.edu	37	chr4	111436590	111436590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagagaattttcaaaaaGgatgtcaggtatgatttatt	8	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111436590G>A	ENST00000265162.5	+	8	1843	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	501					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTTTCAAAAAGGATGTCAGGT	0.294													False	0	True	4:111436590	0	A	111436590	G	A	111436590	3	1	88	1	0	0	0	0	1	0	0	0	5160	1001	35	2	1531	2	ENPEP	4	111436590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5134	111436590	79717686	5383	13095											
TIFA	92610	broad.mit.edu	37	chr4	113199274	113199274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggtagcccagctctctgCtgtccacgatcagattggtc	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199274C>T	ENST00000361717.3	-	2	580	c.299G>A	c.(298-300)aGc>aAc	p.S100N	TIFA_ENST00000500655.2_Missense_Mutation_p.S100N	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain		FHA.						protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		CAGCTCTCTGCTGTCCACGAT	0.418													False	0	False	4:113199274	0	T	113199274	C	T	113199274	3	4	88	1	0	0	0	0	1	0	0	0	15976	797	28	2	259	2	TIFA	4	113199274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1762684	113199274	77955002	5384	13096											
TIFA	92610	broad.mit.edu	37	chr4	113199287	113199287	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctctctgctgtccacgatcaGattggtctttttactcatat	6	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199287G>A	ENST00000361717.3	-	2	567	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	TIFA_ENST00000500655.2_Silent_p.L96L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain		FHA.						protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TCCACGATCAGATTGGTCTTT	0.413													False	0	False	4:113199287	0	A	113199287	G	A	113199287	2	1	88	1	0	0	0	0	0	0	0	1	15976	933	33	2		2	TIFA	4	113199287	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	113199287	77954989	5385	13097											
ALPK1	80216	broad.mit.edu	37	chr4	113303625	113303625	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggcccttcgtgcctgaaAagtggcagtacaaacaagcc	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113303625A>G	ENST00000458497.1	+	4	472	c.193A>G	c.(193-195)Aag>Gag	p.K65E	ALPK1_ENST00000504176.2_Intron|ALPK1_ENST00000177648.9_Missense_Mutation_p.K65E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	65							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CGTGCCTGAAAAGTGGCAGTA	0.522													False	0	True	4:113303625	0	G	113303625	A	G	113303625	3	3	88	1	0	0	0	0	1	0	0	0	544	15	1	4	199	4	ALPK1	4	113303625	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	104338	113303625	77850651	5386	13098											
ALPK1	80216	broad.mit.edu	37	chr4	113352444	113352444	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtggcagccagacttccAgtgcttggagcaacttatca	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113352444A>C	ENST00000458497.1	+	11	2020	c.1741A>C	c.(1741-1743)Agt>Cgt	p.S581R	ALPK1_ENST00000504176.2_Missense_Mutation_p.S503R|ALPK1_ENST00000177648.9_Missense_Mutation_p.S581R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	581							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCAGACTTCCAGTGCTTGGAG	0.502													False	0	False	4:113352444	0	C	113352444	A	C	113352444	3	2	88	1	0	0	0	0	1	0	0	0	544	188	7	4	1775	4	ALPK1	4	113352444	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48819	113352444	77801832	5387	13099											
ALPK1	80216	broad.mit.edu	37	chr4	113352781	113352781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgcagggcttctagaagGagctccagaaggtatccagg	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113352781G>A	ENST00000458497.1	+	11	2357	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E	ALPK1_ENST00000504176.2_Missense_Mutation_p.G615E|ALPK1_ENST00000177648.9_Missense_Mutation_p.G693E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	693							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTTCTAGAAGGAGCTCCAGAA	0.498													False	0	False	4:113352781	0	A	113352781	G	A	113352781	3	1	88	1	0	0	0	0	1	0	0	0	544	1174	41	2	2112	2	ALPK1	4	113352781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337	113352781	77801495	5388	13100											
ALPK1	80216	broad.mit.edu	37	chr4	113360948	113360948	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggtgaaaacagaatacaAagccacagaatatggcttgg	11	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113360948A>G	ENST00000458497.1	+	14	3737	c.3458A>G	c.(3457-3459)aAa>aGa	p.K1153R	ALPK1_ENST00000504176.2_Missense_Mutation_p.K1075R|ALPK1_ENST00000177648.9_Missense_Mutation_p.K1153R	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1153	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACAGAATACAAAGCCACAGAA	0.373													False	0	True	4:113360948	0	G	113360948	A	G	113360948	3	3	88	1	0	0	0	0	1	0	0	0	544	14	1	4	3504	4	ALPK1	4	113360948	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8167	113360948	77793328	5389	13101											
C4orf21	55345	broad.mit.edu	37	chr4	113502905	113502905	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tataaaactcaggatttacaGtagtaaacttctttagtttg	6	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113502905G>T	ENST00000505019.1	-	16	4477	c.4352C>A	c.(4351-4353)aCt>aAt	p.T1451N		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGGATTTACAGTAGTAAACTT	0.289													False	0	False	4:113502905	0	T	113502905	G	T	113502905	3	4	88	1	0	0	0	0	1	0	0	0	2271	1029	36	3	2014	3	C4orf21	4	113502905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141957	113502905	77651371	5390	13102											
C4orf21	55345	broad.mit.edu	37	chr4	113538718	113538718	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacatagcgactttaaaataGaaatggtatttactaatcca	5	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113538718G>A	ENST00000505019.1	-	6	2605	c.2480C>T	c.(2479-2481)tCt>tTt	p.S827F	C4orf21_ENST00000309071.5_Missense_Mutation_p.S827F|C4orf21_ENST00000445203.2_Missense_Mutation_p.S796F	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	827										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTTAAAATAGAAATGGTATT	0.378													False	0	True	4:113538718	0	A	113538718	G	A	113538718	3	1	88	1	0	0	0	0	1	0	0	0	2271	942	33	2	3926	2	C4orf21	4	113538718	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35813	113538718	77615558	5391	13103											
C4orf21	55345	broad.mit.edu	37	chr4	113539394	113539394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctctttaacaggaaatgTcactgtaggtttgtcactaa	8	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113539394T>C	ENST00000505019.1	-	6	1929	c.1804A>G	c.(1804-1806)Aca>Gca	p.T602A	C4orf21_ENST00000309071.5_Missense_Mutation_p.T602A|C4orf21_ENST00000445203.2_Missense_Mutation_p.T571A	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	602										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACAGGAAATGTCACTGTAGGT	0.353													False	0	False	4:113539394	0	C	113539394	T	C	113539394	3	2	88	1	0	0	0	0	1	0	0	0	2271	1667	58	4	4602	4	C4orf21	4	113539394	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	676	113539394	77614882	5392	13104											
ANK2	287	broad.mit.edu	37	chr4	113970914	113970914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgcagctcagaaaagCgacagtggagagaagttcaa	13	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113970914C>T	ENST00000357077.4	+	1	83	c.30C>T	c.(28-30)agC>agT	p.S10S	ANK2_ENST00000394537.3_Silent_p.S10S|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.S10S|RP11-650J17.1_ENST00000508959.1_RNA	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	10					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCAGAAAAGCGACAGTGGAG	0.438													False	0	False	4:113970914	0	T	113970914	C	T	113970914	2	4	88	1	0	0	0	0	0	0	0	1	621	767	27	1		1	ANK2	4	113970914	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	431520	113970914	77183362	5393	13105											
ANK2	287	broad.mit.edu	37	chr4	114158175	114158175	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctctagctgtggcactccaGcaaggacacaaccaggcggt	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114158175G>T	ENST00000357077.4	+	6	569	c.516G>T	c.(514-516)caG>caT	p.Q172H	ANK2_ENST00000394537.3_Missense_Mutation_p.Q172H|ANK2_ENST00000506722.1_Missense_Mutation_p.Q151H|ANK2_ENST00000264366.6_Missense_Mutation_p.Q172H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	172					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCACTCCAGCAAGGACACA	0.473													False	0	False	4:114158175	0	T	114158175	G	T	114158175	3	4	88	1	0	0	0	0	1	0	0	0	621	962	34	3	563	3	ANK2	4	114158175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187261	114158175	76996101	5394	13106											
ANK2	287	broad.mit.edu	37	chr4	114158312	114158312	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttcagaatgaccacaatgCtgacgtacaatccaaggtac	8	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114158312C>A	ENST00000357077.4	+	6	706	c.653C>A	c.(652-654)gCt>gAt	p.A218D	ANK2_ENST00000394537.3_Missense_Mutation_p.A218D|ANK2_ENST00000506722.1_Missense_Mutation_p.A197D|ANK2_ENST00000264366.6_Missense_Mutation_p.A218D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	218					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GACCACAATGCTGACGTACAA	0.488													False	0	False	4:114158312	0	A	114158312	C	A	114158312	3	1	88	1	0	0	0	0	1	0	0	0	621	797	28	3	700	3	ANK2	4	114158312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	114158312	76995964	5395	13107											
ANK2	287	broad.mit.edu	37	chr4	114161660	114161660	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtggttttacccctttgcAcatagctgcacattacggaa	9	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114161660A>G	ENST00000357077.4	+	8	766	c.713A>G	c.(712-714)cAc>cGc	p.H238R	ANK2_ENST00000394537.3_Missense_Mutation_p.H238R|ANK2_ENST00000506722.1_Missense_Mutation_p.H217R|ANK2_ENST00000264366.6_Missense_Mutation_p.H238R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	238					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCCCTTTGCACATAGCTGCA	0.433													False	0	False	4:114161660	0	G	114161660	A	G	114161660	3	3	88	1	0	0	0	0	1	0	0	0	621	159	6	4	768	4	ANK2	4	114161660	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3348	114161660	76992616	5396	13108											
ANK2	287	broad.mit.edu	37	chr4	114161720	114161720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctaaaccggggagctgCtgtggacttcacagccaggg	13	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114161720C>T	ENST00000357077.4	+	8	826	c.773C>T	c.(772-774)gCt>gTt	p.A258V	ANK2_ENST00000394537.3_Missense_Mutation_p.A258V|ANK2_ENST00000506722.1_Missense_Mutation_p.A237V|ANK2_ENST00000264366.6_Missense_Mutation_p.A258V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	258					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGGGGAGCTGCTGTGGACTTC	0.398													False	0	False	4:114161720	0	T	114161720	C	T	114161720	3	4	88	1	0	0	0	0	1	0	0	0	621	797	28	2	828	2	ANK2	4	114161720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	114161720	76992556	5397	13109											
ANK2	287	broad.mit.edu	37	chr4	114163362	114163362	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagatcgatgccaaaacTagggtgagtgtctctgttct	12	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114163362T>C	ENST00000357077.4	+	9	941	c.888T>C	c.(886-888)acT>acC	p.T296T	ANK2_ENST00000394537.3_Silent_p.T296T|ANK2_ENST00000506722.1_Silent_p.T275T|ANK2_ENST00000264366.6_Silent_p.T296T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	296					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGCCAAAACTAGGGTGAGTG	0.418													False	0	False	4:114163362	0	C	114163362	T	C	114163362	2	2	88	1	0	0	0	0	0	0	0	1	621	1509	53	4		4	ANK2	4	114163362	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1642	114163362	76990914	5398	13110											
ANK2	287	broad.mit.edu	37	chr4	114257193	114257193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagggggcactcaccaagCggatccgcgtaggcctgcag	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114257193C>T	ENST00000357077.4	+	30	3624	c.3571C>T	c.(3571-3573)Cgg>Tgg	p.R1191W	ANK2_ENST00000394537.3_Missense_Mutation_p.R1191W|ANK2_ENST00000506722.1_Missense_Mutation_p.R1182W|ANK2_ENST00000264366.6_Missense_Mutation_p.R1158W|ANK2_ENST00000509550.1_Missense_Mutation_p.R367W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1158					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R1191W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTCACCAAGCGGATCCGCGT	0.507													False	0	False	4:114257193	0	T	114257193	C	T	114257193	3	4	88	1	0	0	0	0	1	0	0	0	621	759	27	1	3754	1	ANK2	4	114257193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93831	114257193	76897083	5399	13111											
ANK2	287	broad.mit.edu	37	chr4	114264287	114264287	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaaagaaaatagacttcctCtatttgtcaaggtaatatat	5	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114264287C>T	ENST00000357077.4	+	34	4290	c.4237C>T	c.(4237-4239)Cta>Tta	p.L1413L	ANK2_ENST00000394537.3_Silent_p.L1413L|ANK2_ENST00000510275.2_Silent_p.L65L|ANK2_ENST00000506722.1_Silent_p.L1404L|ANK2_ENST00000264366.6_Silent_p.L1380L|ANK2_ENST00000509550.1_Silent_p.L589L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1380					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAGACTTCCTCTATTTGTCAA	0.328													False	0	False	4:114264287	0	T	114264287	C	T	114264287	2	4	88	1	0	0	0	0	0	0	0	1	621	912	32	2		2	ANK2	4	114264287	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7094	114264287	76889989	5400	13112											
ANK2	287	broad.mit.edu	37	chr4	114279143	114279143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgatatgaccaaaaggtcCtatgcagatgaaagttttca	8	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114279143C>T	ENST00000357077.4	+	38	9422	c.9369C>T	c.(9367-9369)tcC>tcT	p.S3123S	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.S3090S|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3090					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAAAAGGTCCTATGCAGATG	0.448													False	0	False	4:114279143	0	T	114279143	C	T	114279143	2	4	88	1	0	0	0	0	0	0	0	1	621	668	24	2		2	ANK2	4	114279143	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14856	114279143	76875133	5401	13113											
ANK2	287	broad.mit.edu	37	chr4	114282046	114282046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgatcaccttggcttcagCtggacaggtaaaaagaatgt	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114282046C>A	ENST00000357077.4	+	39	10802	c.10749C>A	c.(10747-10749)agC>agA	p.S3583R	ANK2_ENST00000394537.3_Missense_Mutation_p.S1498R|ANK2_ENST00000510275.2_Missense_Mutation_p.S150R|ANK2_ENST00000506722.1_Missense_Mutation_p.S1489R|ANK2_ENST00000264366.6_Missense_Mutation_p.S3550R|ANK2_ENST00000509550.1_Missense_Mutation_p.S674R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3550	Death.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGGCTTCAGCTGGACAGGTA	0.463													False	0	False	4:114282046	0	A	114282046	C	A	114282046	3	1	88	1	0	0	0	0	1	0	0	0	621	796	28	3	10968	3	ANK2	4	114282046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2903	114282046	76872230	5402	13114											
CAMK2D	817	broad.mit.edu	37	chr4	114430832	114430832	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcaacaaactcttggctgCtgtaaaatgagagtaaaatc	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114430832C>A	ENST00000454265.2	-	13	1805		c.e13-1		CAMK2D_ENST00000394524.3_Splice_Site|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000296402.5_Splice_Site|CAMK2D_ENST00000429180.1_Splice_Site|CAMK2D_ENST00000394526.2_Splice_Site|CAMK2D_ENST00000505990.1_Splice_Site|CAMK2D_ENST00000511664.1_Splice_Site|CAMK2D_ENST00000379773.2_Splice_Site|CAMK2D_ENST00000394522.3_Splice_Site|CAMK2D_ENST00000508738.1_Splice_Site|CAMK2D_ENST00000418639.2_Splice_Site|CAMK2D_ENST00000515496.1_Splice_Site|CAMK2D_ENST00000342666.5_Splice_Site			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta						interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CTCTTGGCTGCTGTAAAATGA	0.393													False	0	False	4:114430832	0	A	114430832	C	A	114430832	5	1	88	1	0	0	0	0	0	0	1	0	2621	811	28	3	672	3	CAMK2D	4	114430832	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148786	114430832	76723444	5403	13115											
UGT8	7368	broad.mit.edu	37	chr4	115597280	115597280	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcttggtgctgccttgTtatactttctcttgtcttgg	9	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115597280T>G	ENST00000310836.6	+	6	1984	c.1462T>G	c.(1462-1464)Tta>Gta	p.L488V	UGT8_ENST00000394511.3_Missense_Mutation_p.L488V	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	488					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TGCTGCCTTGTTATACTTTCT	0.398													False	0	False	4:115597280	0	G	115597280	T	G	115597280	3	3	88	1	0	0	0	0	1	0	0	0	17049	1722	60	4	1480	4	UGT8	4	115597280	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1166448	115597280	75556996	5404	13116											
NDST4	64579	broad.mit.edu	37	chr4	115769425	115769425	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agaactgaacttcctcaaatGtctttggactagggagattg	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115769425G>C	ENST00000264363.2	-	9	2564	c.1886C>G	c.(1885-1887)aCa>aGa	p.T629R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	629	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCCTCAAATGTCTTTGGACT	0.308													False	0	False	4:115769425	0	C	115769425	G	C	115769425	3	2	88	1	0	0	0	0	1	0	0	0	10326	1377	48	5	756	5	NDST4	4	115769425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172145	115769425	75384851	5405	13117											
NDST4	64579	broad.mit.edu	37	chr4	115856370	115856370	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagaatacatactgggtttaGaaggattgtgagaaaaagtt	11	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115856370G>T	ENST00000264363.2	-	6	2206	c.1528C>A	c.(1528-1530)Cta>Ata	p.L510I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	510	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACTGGGTTTAGAAGGATTGTG	0.323													False	0	False	4:115856370	0	T	115856370	G	T	115856370	3	4	88	1	0	0	0	0	1	0	0	0	10326	933	33	3	1126	3	NDST4	4	115856370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86945	115856370	75297906	5406	13118											
TRAM1L1	133022	broad.mit.edu	37	chr4	118006158	118006158	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtgccccaaatacaagaaAaaaagtagaacacactaaac	5	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:118006158A>C	ENST00000310754.4	-	1	578	c.392T>G	c.(391-393)tTt>tGt	p.F131C		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	131	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AATACAAGAAAAAAAGTAGAA	0.378													False	0	True	4:118006158	0	C	118006158	A	C	118006158	3	2	88	1	0	0	0	0	1	0	0	0	16535	14	1	4	721	4	TRAM1L1	4	118006158	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2149788	118006158	73148118	5407	13119											
NDST3	9348	broad.mit.edu	37	chr4	118975655	118975655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagattgttgtattaatcCtcattctccattgattcgtg	6	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:118975655C>T	ENST00000296499.5	+	2	993	c.590C>T	c.(589-591)cCt>cTt	p.P197L	NDST3_ENST00000433996.2_Missense_Mutation_p.P197L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	197	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGTATTAATCCTCATTCTCCA	0.358													False	0	False	4:118975655	0	T	118975655	C	T	118975655	3	4	88	1	0	0	0	0	1	0	0	0	10325	681	24	2	592	2	NDST3	4	118975655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	969497	118975655	72178621	5408	13120											
NDST3	9348	broad.mit.edu	37	chr4	119145758	119145758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaacctgcgacttcagaCtctgcctccagtacaactgg	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119145758C>T	ENST00000296499.5	+	7	2055	c.1652C>T	c.(1651-1653)aCt>aTt	p.T551I	NDST3_ENST00000433996.2_Missense_Mutation_p.T470I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	551	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CGACTTCAGACTCTGCCTCCA	0.418													False	0	False	4:119145758	0	T	119145758	C	T	119145758	3	4	88	1	0	0	0	0	1	0	0	0	10325	565	20	2	1674	2	NDST3	4	119145758	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170103	119145758	72008518	5409	13121											
PRSS12	8492	broad.mit.edu	37	chr4	119203216	119203216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacaccacccagctctctcCgggccgttcacacatgagtg	8	16	2	1	rs139833696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119203216C>T	ENST00000296498.3	-	13	2785	c.2503G>A	c.(2503-2505)Gga>Aga	p.G835R		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	835	Peptidase S1.					membrane	scavenger receptor activity	p.G835R(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAGCTCTCTCCGGGCCGTTCA	0.547													False	0	True	4:119203216	0	T	119203216	C	T	119203216	3	4	88	1	0	0	0	0	1	0	0	0	12691	661	23	1	128	1	PRSS12	4	119203216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57458	119203216	71951060	5410	13122											
PRSS12	8492	broad.mit.edu	37	chr4	119203366	119203366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaggaagtaagggaatggCtgcttgttgtagtgttcttg	14	3	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119203366C>A	ENST00000296498.3	-	13	2635	c.2353G>T	c.(2353-2355)Gcc>Tcc	p.A785S		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	785	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAGGGAATGGCTGCTTGTTGT	0.433													False	0	False	4:119203366	0	A	119203366	C	A	119203366	3	1	88	1	0	0	0	0	1	0	0	0	12691	797	28	3	278	3	PRSS12	4	119203366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150	119203366	71950910	5411	13123											
PRSS12	8492	broad.mit.edu	37	chr4	119234403	119234403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggtagcaggcaatgctaAcatcttcgcggtggctgcag	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119234403A>G	ENST00000296498.3	-	7	1724	c.1442T>C	c.(1441-1443)gTt>gCt	p.V481A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	481	SRCR 3.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GGCAATGCTAACATCTTCGCG	0.547													False	0	False	4:119234403	0	G	119234403	A	G	119234403	3	3	88	1	0	0	0	0	1	0	0	0	12691	43	2	4	1213	4	PRSS12	4	119234403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31037	119234403	71919873	5412	13124											
PRSS12	8492	broad.mit.edu	37	chr4	119253000	119253000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgctgcctccagcaaggCgaatgatggggaacgttggg	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119253000C>T	ENST00000296498.3	-	4	1124	c.842G>A	c.(841-843)cGc>cAc	p.R281H		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	281	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCAGCAAGGCGAATGATGGG	0.458													False	0	False	4:119253000	0	T	119253000	C	T	119253000	3	4	88	1	0	0	0	0	1	0	0	0	12691	768	27	1	1825	1	PRSS12	4	119253000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18597	119253000	71901276	5413	13125											
SYNPO2	171024	broad.mit.edu	37	chr4	119978917	119978917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtataatgtcacagccaataAtaatatgtccaccacctccc	4	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119978917A>G	ENST00000307142.4	+	5	3810	c.3614A>G	c.(3613-3615)aAt>aGt	p.N1205S	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACAGCCAATAATAATATGTCC	0.433													False	0	True	4:119978917	0	G	119978917	A	G	119978917	3	3	88	1	0	0	0	0	1	0	0	0	15539	101	4	4	3744	4	SYNPO2	4	119978917	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	725917	119978917	71175359	5414	13126											
MYOZ2	51778	broad.mit.edu	37	chr4	120072119	120072119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtaaccgtggtgccaggCtatttaagatgcgtcaaaga	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120072119C>T	ENST00000307128.5	+	3	382	c.169C>T	c.(169-171)Cta>Tta	p.L57L		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	57							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TGGTGCCAGGCTATTTAAGAT	0.398													False	0	False	4:120072119	0	T	120072119	C	T	120072119	2	4	88	1	0	0	0	0	0	0	0	1	10163	796	28	2		2	MYOZ2	4	120072119	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93202	120072119	71082157	5415	13127											
MYOZ2	51778	broad.mit.edu	37	chr4	120079184	120079184	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgattaaatacagcacagtaTtgctatgcagaatgggaaag	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120079184T>G	ENST00000307128.5	+	4	467	c.254T>G	c.(253-255)aTt>aGt	p.I85S		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	85							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CAGCACAGTATTGCTATGCAG	0.408													False	0	False	4:120079184	0	G	120079184	T	G	120079184	3	3	88	1	0	0	0	0	1	0	0	0	10163	1493	52	4	264	4	MYOZ2	4	120079184	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7065	120079184	71075092	5416	13128											
MYOZ2	51778	broad.mit.edu	37	chr4	120085546	120085546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgattacaggagctttaAcaggtaattcaatggtcctg	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120085546A>G	ENST00000307128.5	+	5	770	c.557A>G	c.(556-558)aAc>aGc	p.N186S		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	186				N -> T (in Ref. 1; AAG13932).			protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGGAGCTTTAACAGGTAATTC	0.398													False	0	False	4:120085546	0	G	120085546	A	G	120085546	3	3	88	1	0	0	0	0	1	0	0	0	10163	43	2	4	571	4	MYOZ2	4	120085546	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6362	120085546	71068730	5417	13129											
USP53	54532	broad.mit.edu	37	chr4	120177606	120177606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctatatagtgtgtgtgtcGtagctgtggagcatcgtcag	13	7	1	0	rs141895329	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120177606G>A	ENST00000450251.1	+	5	1041	c.497G>A	c.(496-498)cGt>cAt	p.R166H	USP53_ENST00000274030.6_Missense_Mutation_p.R166H			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	166					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGTGTGTGTCGTAGCTGTGGA	0.333													False	0	False	4:120177606	0	A	120177606	G	A	120177606	3	1	88	1	0	0	0	0	1	0	0	0	17168	1145	40	1	515	1	USP53	4	120177606	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92060	120177606	70976670	5418	13130											
USP53	54532	broad.mit.edu	37	chr4	120190845	120190845	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagaatgatttcttttacaGctaagttaagtcacattgat	6	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120190845G>A	ENST00000450251.1	+	11	1832		c.e11-1		USP53_ENST00000274030.6_Splice_Site			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53						ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTCTTTTACAGCTAAGTTAAG	0.259													False	0	False	4:120190845	0	A	120190845	G	A	120190845	5	1	88	1	0	0	0	0	0	0	1	0	17168	985	34	2	1330	2	USP53	4	120190845	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13239	120190845	70963431	5419	13131											
PDE5A	8654	broad.mit.edu	37	chr4	120446754	120446754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgaggtcagtaaacatccGaattgtacacagtgctgttt	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120446754G>A	ENST00000354960.3	-	12	2048	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	PDE5A_ENST00000512739.1_5'UTR|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W|PDE5A_ENST00000394439.1_Missense_Mutation_p.R525W	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	577					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.R577W(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTAAACATCCGAATTGTACAC	0.448													False	0	False	4:120446754	0	A	120446754	G	A	120446754	3	1	88	1	0	0	0	0	1	0	0	0	11712	1057	37	1	938	1	PDE5A	4	120446754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	255909	120446754	70707522	5420	13132											
PDE5A	8654	broad.mit.edu	37	chr4	120463721	120463721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaagcttccagaaactgttCgtcatttcggttgaaaggct	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120463721C>T	ENST00000354960.3	-	10	1784	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	PDE5A_ENST00000512739.1_5'UTR|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.E447K|PDE5A_ENST00000394439.1_Missense_Mutation_p.E437K	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	489	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AGAAACTGTTCGTCATTTCGG	0.438													False	0	False	4:120463721	0	T	120463721	C	T	120463721	3	4	88	1	0	0	0	0	1	0	0	0	11712	893	31	1	1210	1	PDE5A	4	120463721	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16967	120463721	70690555	5421	13133											
PDE5A	8654	broad.mit.edu	37	chr4	120474867	120474867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatttttgacatactgagCatacatgtaattgattttgt	7	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120474867C>T	ENST00000354960.3	-	8	1553	c.1234G>A	c.(1234-1236)Gct>Act	p.A412T	PDE5A_ENST00000264805.5_Missense_Mutation_p.A370T|PDE5A_ENST00000394439.1_Missense_Mutation_p.A360T	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	412	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ACATACTGAGCATACATGTAA	0.343													False	0	False	4:120474867	0	T	120474867	C	T	120474867	3	4	88	1	0	0	0	0	1	0	0	0	11712	710	25	2	1449	2	PDE5A	4	120474867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11146	120474867	70679409	5422	13134											
MAD2L1	4085	broad.mit.edu	37	chr4	120981442	120981442	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tataaatcagcagatcaaatGaacctaaattggggataaga	8	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120981442G>A	ENST00000296509.6	-	5	788	c.449C>T	c.(448-450)tCa>tTa	p.S150L		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)		HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CAGATCAAATGAACCTAAATT	0.363													False	0	False	4:120981442	0	A	120981442	G	A	120981442	3	1	88	1	0	0	0	0	1	0	0	0	9211	1294	45	2	172	2	MAD2L1	4	120981442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506575	120981442	70172834	5423	13135											
PRDM5	11107	broad.mit.edu	37	chr4	121702388	121702388	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctttcatgaaccacctgGacatgaacatttaatgtatc	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121702388G>A	ENST00000264808.3	-	12	1593	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	PRDM5_ENST00000515109.1_Silent_p.V420V|PRDM5_ENST00000428209.2_Silent_p.V420V	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	451					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAACCACCTGGACATGAACAT	0.388													False	0	False	4:121702388	0	A	121702388	G	A	121702388	2	1	88	1	0	0	0	0	0	0	0	1	12536	1161	41	2		2	PRDM5	4	121702388	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	720946	121702388	69451888	5424	13136											
PRDM5	11107	broad.mit.edu	37	chr4	121702402	121702402	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctggacatgaacatttaAtgtatccttcctcttaaagg	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121702402A>G	ENST00000264808.3	-	12	1579	c.1339T>C	c.(1339-1341)Tta>Cta	p.L447L	PRDM5_ENST00000515109.1_Silent_p.L416L|PRDM5_ENST00000428209.2_Silent_p.L416L	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	447					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAACATTTAATGTATCCTTC	0.398													False	0	False	4:121702402	0	G	121702402	A	G	121702402	2	3	88	1	0	0	0	0	0	0	0	1	12536	98	4	4		4	PRDM5	4	121702402	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14	121702402	69451874	5425	13137											
PRDM5	11107	broad.mit.edu	37	chr4	121739544	121739544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttaactgggaatttcttcCcacagttcttgcacttaaat	6	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121739544C>T	ENST00000264808.3	-	5	854	c.614G>A	c.(613-615)gGg>gAg	p.G205E	PRDM5_ENST00000515109.1_Missense_Mutation_p.G205E|PRDM5_ENST00000428209.2_Missense_Mutation_p.G205E	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	205					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAATTTCTTCCCACAGTTCTT	0.373													False	0	True	4:121739544	0	T	121739544	C	T	121739544	3	4	88	1	0	0	0	0	1	0	0	0	12536	623	22	2	1326	2	PRDM5	4	121739544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37142	121739544	69414732	5426	13138											
PRDM5	11107	broad.mit.edu	37	chr4	121774643	121774643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgaagccagttggagtgcCgtgggttggtagcatccaaa	15	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121774643C>T	ENST00000264808.3	-	3	470	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	PRDM5_ENST00000515109.1_Missense_Mutation_p.R77Q|PRDM5_ENST00000394435.2_Missense_Mutation_p.R77Q|PRDM5_ENST00000428209.2_Missense_Mutation_p.R77Q	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	77	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTGGAGTGCCGTGGGTTGGT	0.443													False	0	False	4:121774643	0	T	121774643	C	T	121774643	3	4	88	1	0	0	0	0	1	0	0	0	12536	652	23	1	1718	1	PRDM5	4	121774643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35099	121774643	69379633	5427	13139											
TNIP3	79931	broad.mit.edu	37	chr4	122075755	122075755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttccttttccttgttcGcaagagtattttttcccttt	5	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122075755G>A	ENST00000454328.1	-	7	670	c.443C>T	c.(442-444)gCg>gTg	p.A148V	TNIP3_ENST00000507879.1_Missense_Mutation_p.A218V|TNIP3_ENST00000057513.3_Missense_Mutation_p.A148V|TNIP3_ENST00000509841.1_Missense_Mutation_p.A225V			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	148										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TTCCTTGTTCGCAAGAGTATT	0.343													False	0	False	4:122075755	0	A	122075755	G	A	122075755	3	1	88	1	0	0	0	0	1	0	0	0	16398	1087	38	1	562	1	TNIP3	4	122075755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	301112	122075755	69078521	5428	13140											
TNIP3	79931	broad.mit.edu	37	chr4	122078275	122078275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcagccggtcccgggTcaggtcgcgctgcctgtcgt	15	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122078275T>G	ENST00000454328.1	-	6	564	c.337A>C	c.(337-339)Acc>Ccc	p.T113P	TNIP3_ENST00000507879.1_Missense_Mutation_p.T183P|TNIP3_ENST00000057513.3_Missense_Mutation_p.T113P|TNIP3_ENST00000509841.1_Missense_Mutation_p.T190P			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	113										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGGTCCCGGGTCAGGTCGCGC	0.647													False	0	True	4:122078275	0	G	122078275	T	G	122078275	3	3	88	1	0	0	0	0	1	0	0	0	16398	1667	58	4	672	4	TNIP3	4	122078275	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2520	122078275	69076001	5429	13141											
TNIP3	79931	broad.mit.edu	37	chr4	122085277	122085277	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccctgtacaaaatgtgCcatggaagctgtttttcctg	10	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122085277C>A	ENST00000454328.1	-	3	231	c.4G>T	c.(4-6)Gca>Tca	p.A2S	TNIP3_ENST00000507879.1_Missense_Mutation_p.A72S|TNIP3_ENST00000057513.3_Missense_Mutation_p.A2S|TNIP3_ENST00000509841.1_Missense_Mutation_p.A79S			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	2										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						ACAAAATGTGCCATGGAAGCT	0.388													False	0	False	4:122085277	0	A	122085277	C	A	122085277	3	1	88	1	0	0	0	0	1	0	0	0	16398	739	26	3	1017	3	TNIP3	4	122085277	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7002	122085277	69068999	5430	13142											
EXOSC9	5393	broad.mit.edu	37	chr4	122732759	122732759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagatgcagtaaaatcGctggtgtgaaagtagcagaa	12	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122732759G>A	ENST00000512454.1	+	7	928	c.712G>A	c.(712-714)Gct>Act	p.A238T	EXOSC9_ENST00000379663.3_Missense_Mutation_p.A254T|EXOSC9_ENST00000243498.5_Missense_Mutation_p.A254T|EXOSC9_ENST00000509980.1_3'UTR			Q06265	EXOS9_HUMAN	exosome component 9	254	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CAGTAAAATCGCTGGTGTGAA	0.308													False	0	False	4:122732759	0	A	122732759	G	A	122732759	3	1	88	1	0	0	0	0	1	0	0	0	5354	1087	38	1	790	1	EXOSC9	4	122732759	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	647482	122732759	68421517	5431	13143											
CCNA2	890	broad.mit.edu	37	chr4	122740651	122740651	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaaaactagatgctccattCtcagaacttgtttcttggtg	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122740651C>T	ENST00000274026.5	-	5	1181	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	293					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATGCTCCATTCTCAGAACTTG	0.378													False	0	False	4:122740651	0	T	122740651	C	T	122740651	3	4	88	1	0	0	0	0	1	0	0	0	2933	913	32	2	436	2	CCNA2	4	122740651	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7892	122740651	68413625	5432	13144											
CCNA2	890	broad.mit.edu	37	chr4	122743722	122743722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccacatgaatggtgaacGcaggctgtttactgtttgct	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122743722G>A	ENST00000274026.5	-	2	596	c.293C>T	c.(292-294)gCg>gTg	p.A98V		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	98					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						AATGGTGAACGCAGGCTGTTT	0.418													False	0	False	4:122743722	0	A	122743722	G	A	122743722	3	1	88	1	0	0	0	0	1	0	0	0	2933	1087	38	1	1033	1	CCNA2	4	122743722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3071	122743722	68410554	5433	13145											
CCNA2	890	broad.mit.edu	37	chr4	122743779	122743779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacatgctcatcatttacaGgaagatccttaaggggtgca	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122743779G>T	ENST00000274026.5	-	2	539	c.236C>A	c.(235-237)cCt>cAt	p.P79H		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	79					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATCATTTACAGGAAGATCCTT	0.413													False	0	False	4:122743779	0	T	122743779	G	T	122743779	3	4	88	1	0	0	0	0	1	0	0	0	2933	1000	35	3	1090	3	CCNA2	4	122743779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57	122743779	68410497	5434	13146											
BBS7	0	broad.mit.edu	37	chr4	122782737	122782737	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgtgaagcctctaatctcaGatgctgcagcaataaaaatt	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122782737G>T	ENST00000264499.4	-	4	446	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	BBS7_ENST00000506636.1_Missense_Mutation_p.S88Y	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	88					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTAATCTCAGATGCTGCAGC	0.428									Bardet-Biedl syndrome				False	0	False	4:122782737	0	T	122782737	G	T	122782737	3	4	88	1	0	0	0	0	1	0	0	0	1345	942	33	3	1953	3	BBS7	4	122782737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38958	122782737	68371539	5435	13147											
KIAA1109	84162	broad.mit.edu	37	chr4	123130479	123130479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaccaaaatggcgcaacGttactcaggaaaagtgagta	9	7	1	1	rs72925924	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123130479G>A	ENST00000264501.4	+	18	2291	c.1918G>A	c.(1918-1920)Gtt>Att	p.V640I	KIAA1109_ENST00000495260.1_Intron|KIAA1109_ENST00000388738.3_Missense_Mutation_p.V640I|KIAA1109_ENST00000455637.1_Missense_Mutation_p.V640I			Q2LD37	K1109_HUMAN	KIAA1109	640					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGGCGCAACGTTACTCAGGA	0.463													False	0	False	4:123130479	0	A	123130479	G	A	123130479	3	1	88	1	0	0	0	0	1	0	0	0	8258	1145	40	1	1980	1	KIAA1109	4	123130479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	347742	123130479	68023797	5436	13148											
KIAA1109	84162	broad.mit.edu	37	chr4	123249281	123249281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagaggagacagaactggAccttttgtcagtaaccattg	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123249281A>G	ENST00000264501.4	+	66	11391	c.11018A>G	c.(11017-11019)gAc>gGc	p.D3673G	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D3673G			Q2LD37	K1109_HUMAN	KIAA1109	3673					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACAGAACTGGACCTTTTGTCA	0.318													False	0	False	4:123249281	0	G	123249281	A	G	123249281	3	3	88	1	0	0	0	0	1	0	0	0	8258	275	10	4	11272	4	KIAA1109	4	123249281	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	118802	123249281	67904995	5437	13149											
KIAA1109	84162	broad.mit.edu	37	chr4	123258035	123258035	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaccaaatattttaaacaGctgtcagctcacaagatgaa	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123258035G>A	ENST00000264501.4	+	71	12383		c.e71-1		KIAA1109_ENST00000388738.3_Splice_Site			Q2LD37	K1109_HUMAN	KIAA1109						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATTTTAAACAGCTGTCAGCTC	0.323													False	0	False	4:123258035	0	A	123258035	G	A	123258035	5	1	88	1	0	0	0	0	0	0	1	0	8258	985	34	2	12284	2	KIAA1109	4	123258035	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8754	123258035	67896241	5438	13150											
KIAA1109	84162	broad.mit.edu	37	chr4	123258084	123258084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acattttgaaataccagatcCtatggaagaatcaacaacat	5	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123258084C>A	ENST00000264501.4	+	71	12432	c.12059C>A	c.(12058-12060)cCt>cAt	p.P4020H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4020H			Q2LD37	K1109_HUMAN	KIAA1109	4020					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATACCAGATCCTATGGAAGAA	0.358													False	0	False	4:123258084	0	A	123258084	C	A	123258084	3	1	88	1	0	0	0	0	1	0	0	0	8258	681	24	3	12333	3	KIAA1109	4	123258084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49	123258084	67896192	5439	13151											
KIAA1109	84162	broad.mit.edu	37	chr4	123274089	123274089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacatcatcgacactggcCtggagtattgaaggtggtat	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123274089C>T	ENST00000264501.4	+	81	14253	c.13880C>T	c.(13879-13881)cCt>cTt	p.P4627L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P4627L			Q2LD37	K1109_HUMAN	KIAA1109	4627					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CGACACTGGCCTGGAGTATTG	0.433													False	0	False	4:123274089	0	T	123274089	C	T	123274089	3	4	88	1	0	0	0	0	1	0	0	0	8258	681	24	2	14194	2	KIAA1109	4	123274089	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16005	123274089	67880187	5440	13152											
KIAA1109	84162	broad.mit.edu	37	chr4	123277838	123277838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcactgaccacatttgtGtgactatggatgctgagctc	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123277838G>A	ENST00000264501.4	+	84	14936	c.14563G>A	c.(14563-14565)Gtg>Atg	p.V4855M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V4855M			Q2LD37	K1109_HUMAN	KIAA1109	4855					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCACATTTGTGTGACTATGGA	0.358													False	0	True	4:123277838	0	A	123277838	G	A	123277838	3	1	88	1	0	0	0	0	1	0	0	0	8258	1377	48	2	14889	2	KIAA1109	4	123277838	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3749	123277838	67876438	5441	13153											
ADAD1	132612	broad.mit.edu	37	chr4	123302264	123302264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacgtggagagataaatcCtgtgtcagccttgcaccagt	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123302264C>T	ENST00000296513.2	+	4	475	c.290C>T	c.(289-291)cCt>cTt	p.P97L	ADAD1_ENST00000388725.2_Missense_Mutation_p.P79L|ADAD1_ENST00000388724.2_Missense_Mutation_p.P97L|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	97	DRBM.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAGATAAATCCTGTGTCAGCC	0.368													False	0	False	4:123302264	0	T	123302264	C	T	123302264	3	4	88	1	0	0	0	0	1	0	0	0	231	681	24	2	296	2	ADAD1	4	123302264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24426	123302264	67852012	5442	13154											
ADAD1	132612	broad.mit.edu	37	chr4	123342523	123342523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaaaagaattacttgaagCtggtacatatcatgcagcta	7	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123342523C>T	ENST00000296513.2	+	12	1780	c.1595C>T	c.(1594-1596)gCt>gTt	p.A532V	ADAD1_ENST00000388725.2_Missense_Mutation_p.A514V|ADAD1_ENST00000388724.2_Missense_Mutation_p.A521V	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	532	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTACTTGAAGCTGGTACATAT	0.338													False	0	False	4:123342523	0	T	123342523	C	T	123342523	3	4	88	1	0	0	0	0	1	0	0	0	231	797	28	2	1633	2	ADAD1	4	123342523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40259	123342523	67811753	5443	13155											
IL21	59067	broad.mit.edu	37	chr4	123542063	123542063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgacgcattctaatcatgTggcgatcttgaccttgggag	12	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123542063T>C	ENST00000264497.3	-	1	161	c.104A>G	c.(103-105)cAc>cGc	p.H35R	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	28					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCTAATCATGTGGCGATCTTG	0.398													False	0	False	4:123542063	0	C	123542063	T	C	123542063	3	2	88	1	0	0	0	0	1	0	0	0	7720	1696	59	4	404	4	IL21	4	123542063	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	199540	123542063	67612213	5444	13156											
BBS12	166379	broad.mit.edu	37	chr4	123663084	123663084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtcgtaaacaaaagaagaCacatgggacttcaacaactt	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123663084C>A	ENST00000542236.1	+	3	418	c.37C>A	c.(37-39)Cac>Aac	p.H13N	BBS12_ENST00000314218.3_Missense_Mutation_p.H13N	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	13					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAAAAGAAGACACATGGGACT	0.333									Bardet-Biedl syndrome				False	0	False	4:123663084	0	A	123663084	C	A	123663084	3	1	88	1	0	0	0	0	1	0	0	0	1341	478	17	3	39	3	BBS12	4	123663084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121021	123663084	67491192	5445	13157											
BBS12	166379	broad.mit.edu	37	chr4	123664001	123664001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcaagaattttcacttgCtgtctaccaggcttacctga	6	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123664001C>T	ENST00000542236.1	+	3	1335	c.954C>T	c.(952-954)tgC>tgT	p.C318C	BBS12_ENST00000314218.3_Silent_p.C318C	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	318					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TTTTCACTTGCTGTCTACCAG	0.378									Bardet-Biedl syndrome				False	0	False	4:123664001	0	T	123664001	C	T	123664001	2	4	88	1	0	0	0	0	0	0	0	1	1341	805	28	2		2	BBS12	4	123664001	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	917	123664001	67490275	5446	13158											
BBS12	166379	broad.mit.edu	37	chr4	123664988	123664988	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaaactaaatagtagaatTtttaattcagacatttcaaa	4	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123664988T>G	ENST00000542236.1	+	3	2322	c.1941T>G	c.(1939-1941)atT>atG	p.I647M	BBS12_ENST00000314218.3_Missense_Mutation_p.I647M	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	647					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ATAGTAGAATTTTTAATTCAG	0.378									Bardet-Biedl syndrome				False	0	True	4:123664988	0	G	123664988	T	G	123664988	3	3	88	1	0	0	0	0	1	0	0	0	1341	1829	64	4	1943	4	BBS12	4	123664988	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	987	123664988	67489288	5447	13159											
FGF2	2247	broad.mit.edu	37	chr4	123813399	123813399	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagtgtttcttttttgaaCgattggaatctaataactac	7	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123813399C>T	ENST00000264498.3	+	3	783	c.715C>T	c.(715-717)Cga>Tga	p.R239*	NUDT6_ENST00000608639.1_Intron|FGF2_ENST00000608478.1_Nonsense_Mutation_p.R106*	NM_002006.4	NP_001997	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	239					activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	CTTTTTTGAACGATTGGAATC	0.313													False	0	False	4:123813399	0	T	123813399	C	T	123813399	4	4	88	1	0	0	0	0	0	1	0	0	5888	528	19	1	725	1	FGF2	4	123813399	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148411	123813399	67340877	5448	13160											
SPATA5	166378	broad.mit.edu	37	chr4	123848884	123848884	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtataggtcgaccagtgTtgcttactagtttgaacgga	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123848884T>C	ENST00000274008.4	+	2	328	c.259T>C	c.(259-261)Ttg>Ctg	p.L87L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCGACCAGTGTTGCTTACTAG	0.343													False	0	False	4:123848884	0	C	123848884	T	C	123848884	2	2	88	1	0	0	0	0	0	0	0	1	15093	1722	60	4		4	SPATA5	4	123848884	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35485	123848884	67305392	5449	13161											
SPATA5	166378	broad.mit.edu	37	chr4	123855775	123855775	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgataaaaattcaaaagaGcaagacaaccaattcaaagt	5	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123855775G>T	ENST00000274008.4	+	5	1098	c.1029G>T	c.(1027-1029)gaG>gaT	p.E343D	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						ATTCAAAAGAGCAAGACAACC	0.328													False	0	False	4:123855775	0	T	123855775	G	T	123855775	3	4	88	1	0	0	0	0	1	0	0	0	15093	962	34	3	1047	3	SPATA5	4	123855775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6891	123855775	67298501	5450	13162											
SPATA5	166378	broad.mit.edu	37	chr4	124177183	124177183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttataggctttgatgcggCctggaagaattgatagaatc	11	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177183C>T	ENST00000274008.4	+	15	2422	c.2353C>T	c.(2353-2355)Cct>Tct	p.P785S		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTTGATGCGGCCTGGAAGAAT	0.408													False	0	False	4:124177183	0	T	124177183	C	T	124177183	3	4	88	1	0	0	0	0	1	0	0	0	15093	739	26	2	2411	2	SPATA5	4	124177183	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	321408	124177183	66977093	5451	13163											
SPATA5	166378	broad.mit.edu	37	chr4	124177323	124177323	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccttcaaaccgacgcataCtcaggagcagaggtaagata	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177323C>A	ENST00000274008.4	+	15	2562	c.2493C>A	c.(2491-2493)taC>taA	p.Y831*		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCGACGCATACTCAGGAGCAG	0.448													False	0	False	4:124177323	0	A	124177323	C	A	124177323	4	1	88	1	0	0	0	0	0	1	0	0	15093	576	20	3	2551	3	SPATA5	4	124177323	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	124177323	66976953	5452	13164											
ANKRD50	57182	broad.mit.edu	37	chr4	125590747	125590747	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggggaaacaattgactgtcGacttctactgcgtggcaatg	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125590747G>A	ENST00000504087.1	-	4	4722	c.3685C>T	c.(3685-3687)Cga>Tga	p.R1229*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.R1050*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1229	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTGACTGTCGACTTCTACTG	0.413													False	0	False	4:125590747	0	A	125590747	G	A	125590747	4	1	88	1	0	0	0	0	0	1	0	0	677	1066	37	1	608	1	ANKRD50	4	125590747	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1413424	125590747	65563529	5453	13165											
ANKRD50	57182	broad.mit.edu	37	chr4	125592066	125592066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgcatgacccatagacGctgctgctaagaggggtgta	13	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125592066G>A	ENST00000504087.1	-	4	3403	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A610V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	789										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACCCATAGACGCTGCTGCTAA	0.458													False	0	True	4:125592066	0	A	125592066	G	A	125592066	3	1	88	1	0	0	0	0	1	0	0	0	677	1087	38	1	1927	1	ANKRD50	4	125592066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1319	125592066	65562210	5454	13166											
ANKRD50	57182	broad.mit.edu	37	chr4	125599995	125599995	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttacacccttcatcaacaGaatcaacaagcaggtatagg	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125599995G>T	ENST00000504087.1	-	3	1615	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S14Y	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	193										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTCATCAACAGAATCAACAAG	0.438													False	0	False	4:125599995	0	T	125599995	G	T	125599995	3	4	88	1	0	0	0	0	1	0	0	0	677	942	33	3	3719	3	ANKRD50	4	125599995	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7929	125599995	65554281	5455	13167											
FAT4	79633	broad.mit.edu	37	chr4	126238257	126238257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagggtgagcctaagcggCggggctaccttcaggtaaac	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126238257C>T	ENST00000394329.3	+	1	704	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	231	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCTAAGCGGCGGGGCTACCT	0.597											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	4:126238257	0	T	126238257	C	T	126238257	3	4	88	1	0	0	0	0	1	0	0	0	5732	759	27	1	693	1	FAT4	4	126238257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	638262	126238257	64916019	5456	13168											
FAT4	79633	broad.mit.edu	37	chr4	126239005	126239005	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttttcacagcaagtgtAcagagtgaacctgagcgagg	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126239005A>G	ENST00000394329.3	+	1	1452	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	480	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCAAGTGTACAGAGTGAAC	0.542											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	4:126239005	0	G	126239005	A	G	126239005	3	3	88	1	0	0	0	0	1	0	0	0	5732	391	14	4	1441	4	FAT4	4	126239005	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	748	126239005	64915271	5457	13169											
FAT4	79633	broad.mit.edu	37	chr4	126239656	126239656	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggtccaatactttgctcAcattaaggagaatgagcctg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126239656A>G	ENST00000394329.3	+	1	2103	c.2090A>G	c.(2089-2091)cAc>cGc	p.H697R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	697	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACTTTGCTCACATTAAGGAG	0.478													False	0	False	4:126239656	0	G	126239656	A	G	126239656	3	3	88	1	0	0	0	0	1	0	0	0	5732	159	6	4	2092	4	FAT4	4	126239656	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	651	126239656	64914620	5458	13170											
FAT4	79633	broad.mit.edu	37	chr4	126240358	126240358	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatggcatggtactctataGtctgaagcaaaaccccaaga	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126240358G>T	ENST00000394329.3	+	1	2805	c.2792G>T	c.(2791-2793)aGt>aTt	p.S931I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	931	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTACTCTATAGTCTGAAGCAA	0.473													False	0	False	4:126240358	0	T	126240358	G	T	126240358	3	4	88	1	0	0	0	0	1	0	0	0	5732	1029	36	3	2794	3	FAT4	4	126240358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	702	126240358	64913918	5459	13171											
FAT4	79633	broad.mit.edu	37	chr4	126240893	126240893	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaattacacattttacttCgaagaagagcagagggctgg	10	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126240893C>T	ENST00000394329.3	+	1	3340	c.3327C>T	c.(3325-3327)ttC>ttT	p.F1109F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1109	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATTTTACTTCGAAGAAGAGC	0.393													False	0	False	4:126240893	0	T	126240893	C	T	126240893	2	4	88	1	0	0	0	0	0	0	0	1	5732	883	31	1		1	FAT4	4	126240893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	535	126240893	64913383	5460	13172											
FAT4	79633	broad.mit.edu	37	chr4	126241875	126241875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaacattcccatcggtAcatctgtcatttcagtgact	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126241875A>G	ENST00000394329.3	+	1	4322	c.4309A>G	c.(4309-4311)Aca>Gca	p.T1437A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1437	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCCATCGGTACATCTGTCAT	0.418													False	0	False	4:126241875	0	G	126241875	A	G	126241875	3	3	88	1	0	0	0	0	1	0	0	0	5732	391	14	4	4311	4	FAT4	4	126241875	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	982	126241875	64912401	5461	13173											
FAT4	79633	broad.mit.edu	37	chr4	126242165	126242165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatgtttatatcacaaaaCgcccttgctgcagacccatc	5	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242165C>T	ENST00000394329.3	+	1	4612	c.4599C>T	c.(4597-4599)aaC>aaT	p.N1533N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1533	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATCACAAAACGCCCTTGCTG	0.433													False	0	True	4:126242165	0	T	126242165	C	T	126242165	2	4	88	1	0	0	0	0	0	0	0	1	5732	535	19	1		1	FAT4	4	126242165	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	290	126242165	64912111	5462	13174											
FAT4	79633	broad.mit.edu	37	chr4	126242264	126242264	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatggagaaatagagtatgaGatcatcaatggggacacaga	12	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242264G>T	ENST00000394329.3	+	1	4711	c.4698G>T	c.(4696-4698)gaG>gaT	p.E1566D		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1566	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAGAGTATGAGATCATCAATG	0.473													False	0	False	4:126242264	0	T	126242264	G	T	126242264	3	4	88	1	0	0	0	0	1	0	0	0	5732	933	33	3	4700	3	FAT4	4	126242264	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99	126242264	64912012	5463	13175											
FAT4	79633	broad.mit.edu	37	chr4	126242553	126242553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggatctgaggccccaGtggagtattatattgtttca	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242553G>A	ENST00000394329.3	+	1	5000	c.4987G>A	c.(4987-4989)Gtg>Atg	p.V1663M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1663	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAGGCCCCAGTGGAGTATTA	0.418													False	0	False	4:126242553	0	A	126242553	G	A	126242553	3	1	88	1	0	0	0	0	1	0	0	0	5732	1029	36	2	4989	2	FAT4	4	126242553	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	289	126242553	64911723	5464	13176											
FAT4	79633	broad.mit.edu	37	chr4	126336699	126336699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggttcgctatggcattgTtaatggtaataccaatcagg	10	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126336699T>C	ENST00000394329.3	+	5	6594	c.6581T>C	c.(6580-6582)gTt>gCt	p.V2194A	FAT4_ENST00000335110.5_Missense_Mutation_p.V492A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2194	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATGGCATTGTTAATGGTAAT	0.418													False	0	False	4:126336699	0	C	126336699	T	C	126336699	3	2	88	1	0	0	0	0	1	0	0	0	5732	1725	60	4	6599	4	FAT4	4	126336699	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	94146	126336699	64817577	5465	13177											
FAT4	79633	broad.mit.edu	37	chr4	126336858	126336858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatacctccacggtcagcaTtgttctactggatattaatg	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126336858T>C	ENST00000394329.3	+	5	6753	c.6740T>C	c.(6739-6741)aTt>aCt	p.I2247T	FAT4_ENST00000335110.5_Missense_Mutation_p.I545T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2247	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACGGTCAGCATTGTTCTACTG	0.423													False	0	False	4:126336858	0	C	126336858	T	C	126336858	3	2	88	1	0	0	0	0	1	0	0	0	5732	1493	52	4	6758	4	FAT4	4	126336858	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	159	126336858	64817418	5466	13178											
FAT4	79633	broad.mit.edu	37	chr4	126369632	126369632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggttcctttgtctttgcGgttacagtcacagatgctga	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126369632G>A	ENST00000394329.3	+	9	7474	c.7461G>A	c.(7459-7461)gcG>gcA	p.A2487A	FAT4_ENST00000335110.5_Silent_p.A785A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2487	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGTCTTTGCGGTTACAGTCA	0.368													False	0	False	4:126369632	0	A	126369632	G	A	126369632	2	1	88	1	0	0	0	0	0	0	0	1	5732	1103	39	1		1	FAT4	4	126369632	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32774	126369632	64784644	5467	13179											
FAT4	79633	broad.mit.edu	37	chr4	126371043	126371043	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttatagtgacatcttcagatCgaggtaaaccttccttaatt	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126371043C>T	ENST00000394329.3	+	9	8885	c.8872C>T	c.(8872-8874)Cga>Tga	p.R2958*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1256*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2958	Cadherin 28.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCTTCAGATCGAGGTAAACC	0.333													False	0	False	4:126371043	0	T	126371043	C	T	126371043	4	4	88	1	0	0	0	0	0	1	0	0	5732	876	31	1	8906	1	FAT4	4	126371043	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1411	126371043	64783233	5468	13180											
FAT4	79633	broad.mit.edu	37	chr4	126371527	126371527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagagatagagatgcagCgatgaatggcttgattaagt	13	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126371527C>T	ENST00000394329.3	+	9	9369	c.9356C>T	c.(9355-9357)gCg>gTg	p.A3119V	FAT4_ENST00000335110.5_Missense_Mutation_p.A1417V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3119	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAGATGCAGCGATGAATGGC	0.413													False	0	False	4:126371527	0	T	126371527	C	T	126371527	3	4	88	1	0	0	0	0	1	0	0	0	5732	768	27	1	9390	1	FAT4	4	126371527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	484	126371527	64782749	5469	13181											
FAT4	79633	broad.mit.edu	37	chr4	126412394	126412394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctagaaacccaagtatctGcagtgcagaccatgggaggt	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126412394G>A	ENST00000394329.3	+	17	14430	c.14417G>A	c.(14416-14418)tGc>tAc	p.C4806Y	FAT4_ENST00000335110.5_Missense_Mutation_p.C3047Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4806					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAAGTATCTGCAGTGCAGAC	0.522													False	0	True	4:126412394	0	A	126412394	G	A	126412394	3	1	88	1	0	0	0	0	1	0	0	0	5732	1319	46	2	14483	2	FAT4	4	126412394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40867	126412394	64741882	5470	13182											
FAT4	79633	broad.mit.edu	37	chr4	126412738	126412738	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacacactgcccatgaagCtagggcagcaagcagggact	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126412738C>A	ENST00000394329.3	+	17	14774	c.14761C>A	c.(14761-14763)Cta>Ata	p.L4921I	FAT4_ENST00000335110.5_Missense_Mutation_p.L3162I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4921					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCCATGAAGCTAGGGCAGCA	0.557													False	0	False	4:126412738	0	A	126412738	C	A	126412738	3	1	88	1	0	0	0	0	1	0	0	0	5732	796	28	3	14827	3	FAT4	4	126412738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	344	126412738	64741538	5471	13183											
INTU	27152	broad.mit.edu	37	chr4	128625399	128625399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtccgaggattactatgAcatgaggcggctgtatacaa	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128625399A>G	ENST00000335251.6	+	10	1623	c.1520A>G	c.(1519-1521)gAc>gGc	p.D507G	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GATTACTATGACATGAGGCGG	0.313													False	0	False	4:128625399	0	G	128625399	A	G	128625399	3	3	88	1	0	0	0	0	1	0	0	0	7836	275	10	4	1558	4	INTU	4	128625399	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2212661	128625399	62528877	5472	13184											
INTU	27152	broad.mit.edu	37	chr4	128632105	128632105	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaacacacttttccactacGttgccttagaaacagtgcaa	6	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128632105G>T	ENST00000335251.6	+	14	2510	c.2407G>T	c.(2407-2409)Gtt>Ttt	p.V803F		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTTCCACTACGTTGCCTTAGA	0.353													False	0	False	4:128632105	0	T	128632105	G	T	128632105	3	4	88	1	0	0	0	0	1	0	0	0	7836	1145	40	3	2461	3	INTU	4	128632105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6706	128632105	62522171	5473	13185											
SLC25A31	83447	broad.mit.edu	37	chr4	128688339	128688339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacagggcatcattgtgtaCcgagcctcttattttggagc	11	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128688339C>T	ENST00000281154.4	+	4	765	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	199					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TCATTGTGTACCGAGCCTCTT	0.358													False	0	False	4:128688339	0	T	128688339	C	T	128688339	2	4	88	1	0	0	0	0	0	0	0	1	14575	518	18	2		2	SLC25A31	4	128688339	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56234	128688339	62465937	5474	13186											
HSPA4L	22824	broad.mit.edu	37	chr4	128715243	128715243	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggtttagggcctgtatatCattgggatcaagaactcgag	12	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128715243C>T	ENST00000296464.4	+	2	530	c.119C>T	c.(118-120)tCa>tTa	p.S40L	HSPA4L_ENST00000508776.1_Missense_Mutation_p.S40L|HSPA4L_ENST00000439123.2_Missense_Mutation_p.S71L|HSPA4L_ENST00000505726.1_Missense_Mutation_p.S14L	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCCTGTATATCATTGGGATCA	0.328													False	0	False	4:128715243	0	T	128715243	C	T	128715243	3	4	88	1	0	0	0	0	1	0	0	0	7462	838	29	2	125	2	HSPA4L	4	128715243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26904	128715243	62439033	5475	13187											
PLK4	0	broad.mit.edu	37	chr4	128815033	128815033	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcaccaatccttaatccCtctgtaagtaaatatatgtc	5	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128815033C>A	ENST00000270861.5	+	13	2833	c.2559C>A	c.(2557-2559)ccC>ccA	p.P853P	PLK4_ENST00000514379.1_Silent_p.P812P|PLK4_ENST00000515069.1_Silent_p.P775P|PLK4_ENST00000513090.1_Silent_p.P821P|PLK4_ENST00000507249.1_Silent_p.P792P	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	853					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						tccttaatccctctgtaagta	0.388													False	0	True	4:128815033	0	A	128815033	C	A	128815033	2	1	88	1	0	0	0	0	0	0	0	1	12167	668	24	3		3	PLK4	4	128815033	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99790	128815033	62339243	5476	13188											
MFSD8	256471	broad.mit.edu	37	chr4	128841803	128841803	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttattcctgaatcctcccAtatcttacagaaagagcaat	5	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128841803A>C	ENST00000296468.3	-	13	1666	c.1539T>G	c.(1537-1539)taT>taG	p.Y513*	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Nonsense_Mutation_p.Y468*	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	513					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GAATCCTCCCATATCTTACAG	0.473													False	0	True	4:128841803	0	C	128841803	A	C	128841803	4	2	88	1	0	0	0	0	0	1	0	0	9605	224	8	4	21	4	MFSD8	4	128841803	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26770	128841803	62312473	5477	13189											
MFSD8	256471	broad.mit.edu	37	chr4	128843022	128843022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtatggctataccttcccaCtgtattttgggaaattgatt	8	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128843022C>T	ENST00000296468.3	-	11	1222	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	MFSD8_ENST00000515130.1_Intron|MFSD8_ENST00000513559.1_Silent_p.Q320Q	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	365					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.Q365H(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TACCTTCCCACTGTATTTTGG	0.373													False	0	False	4:128843022	0	T	128843022	C	T	128843022	2	4	88	1	0	0	0	0	0	0	0	1	9605	564	20	2		2	MFSD8	4	128843022	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1219	128843022	62311254	5478	13190											
LARP1B	55132	broad.mit.edu	37	chr4	128999013	128999013	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaagagaaggttgaaaAgagaagtaacagtgacagca	12	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128999013A>C	ENST00000326639.6	+	4	324	c.113A>C	c.(112-114)aAg>aCg	p.K38T	LARP1B_ENST00000427266.1_Missense_Mutation_p.K38T|LARP1B_ENST00000441387.1_Missense_Mutation_p.K38T|LARP1B_ENST00000512292.1_Missense_Mutation_p.K38T|LARP1B_ENST00000264584.5_Missense_Mutation_p.K38T|LARP1B_ENST00000394288.3_Missense_Mutation_p.K38T|LARP1B_ENST00000432347.2_Missense_Mutation_p.K38T|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	38							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGGTTGAAAAGAGAAGTAAC	0.378													False	0	True	4:128999013	0	C	128999013	A	C	128999013	3	2	88	1	0	0	0	0	1	0	0	0	8680	72	3	4	119	4	LARP1B	4	128999013	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155991	128999013	62155263	5479	13191											
LARP1B	55132	broad.mit.edu	37	chr4	129012165	129012165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttttaaaaggttggaagcGagatagagaaaaaagggatg	13	1	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129012165G>A	ENST00000326639.6	+	6	579	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	LARP1B_ENST00000427266.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000441387.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000512292.1_Missense_Mutation_p.R123Q|LARP1B_ENST00000264584.5_Missense_Mutation_p.R76Q|LARP1B_ENST00000394288.3_Missense_Mutation_p.R123Q|LARP1B_ENST00000432347.2_Missense_Mutation_p.R123Q|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	123	Arg-rich.						RNA binding	p.R123L(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGTTGGAAGCGAGATAGAGAA	0.373													False	0	False	4:129012165	0	A	129012165	G	A	129012165	3	1	88	1	0	0	0	0	1	0	0	0	8680	1058	37	1	382	1	LARP1B	4	129012165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13152	129012165	62142111	5480	13192											
LARP1B	55132	broad.mit.edu	37	chr4	129043322	129043322	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctatggatggaagaagatgaAaacaaacacacagccataaa	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129043322A>T	ENST00000326639.6	+	11	1714	c.1503A>T	c.(1501-1503)gaA>gaT	p.E501D	LARP1B_ENST00000427266.1_Missense_Mutation_p.E501D|LARP1B_ENST00000441387.1_Missense_Mutation_p.E501D|LARP1B_ENST00000512292.1_Missense_Mutation_p.E501D|LARP1B_ENST00000264584.5_Missense_Mutation_p.E454D|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	501							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGAAGATGAAAACAAACACA	0.358													False	0	True	4:129043322	0	T	129043322	A	T	129043322	3	4	88	1	0	0	0	0	1	0	0	0	8680	11	1	5	1626	5	LARP1B	4	129043322	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31157	129043322	62110954	5481	13193											
LARP1B	55132	broad.mit.edu	37	chr4	129128500	129128500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccaaaacttcaggaatacCtctgtagttttaagaggtta	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129128500C>A	ENST00000326639.6	+	19	2720	c.2509C>A	c.(2509-2511)Ctc>Atc	p.L837I	LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.L778I|LARP1B_ENST00000354456.3_Missense_Mutation_p.L256I	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	837							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TCAGGAATACCTCTGTAGTTT	0.323													False	0	False	4:129128500	0	A	129128500	C	A	129128500	3	1	88	1	0	0	0	0	1	0	0	0	8680	681	24	3	2709	3	LARP1B	4	129128500	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85178	129128500	62025776	5482	13194											
PHF17	0	broad.mit.edu	37	chr4	129783239	129783239	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatttcctgtaccagtactgGaagttgaagaggaaggtcaa	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129783239G>A	ENST00000226319.6	+	9	1642	c.1362G>A	c.(1360-1362)tgG>tgA	p.W454*	PHF17_ENST00000452328.2_Nonsense_Mutation_p.W442*|PHF17_ENST00000512960.1_Nonsense_Mutation_p.W454*|PHF17_ENST00000413543.2_Nonsense_Mutation_p.W454*|PHF17_ENST00000511647.1_Nonsense_Mutation_p.W454*	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		454					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ACCAGTACTGGAAGTTGAAGA	0.502													False	0	False	4:129783239	0	A	129783239	G	A	129783239	4	1	88	1	0	0	0	0	0	1	0	0	11897	1183	41	2	1392	2	PHF17	4	129783239	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	654739	129783239	61371037	5483	13195											
C4orf33	132321	broad.mit.edu	37	chr4	130023756	130023756	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttaacatattttcttttaGagacttcagatggattttaa	5	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:130023756G>T	ENST00000281146.5	+	2	712		c.e2-1		C4orf33_ENST00000425929.1_Splice_Site|C4orf33_ENST00000502887.1_Splice_Site	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TTTTCTTTTAGAGACTTCAGA	0.348													False	0	False	4:130023756	0	T	130023756	G	T	130023756	5	4	88	1	0	0	0	0	0	0	1	0	2280	956	33	3		3	C4orf33	4	130023756	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	240517	130023756	61130520	5484	13196											
C4orf33	132321	broad.mit.edu	37	chr4	130032917	130032917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaacaaccggaatcagacCtgtggctaatagagaaatgt	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:130032917C>A	ENST00000281146.5	+	6	1292	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	C4orf33_ENST00000425929.1_Missense_Mutation_p.L191M	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GGAATCAGACCTGTGGCTAAT	0.328													False	0	False	4:130032917	0	A	130032917	C	A	130032917	3	1	88	1	0	0	0	0	1	0	0	0	2280	680	24	3	589	3	C4orf33	4	130032917	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9161	130032917	61121359	5485	13197											
PCDH10	57575	broad.mit.edu	37	chr4	134071249	134071249	+	Translation_Start_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtggtgggggaggtgaTtgggtggctgactggctgcg	23	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071249T>G	ENST00000264360.5	+	0	780					NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGGAGGTGATTGGGTGGCTG	0.448													False	0	False	4:134071249	0	G	134071249	T	G	134071249	1	3	88	1	0	0	0	0	0	0	0	0	11575	1508	52	4		4	PCDH10	4	134071249	Translation_Start_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4038332	134071249	57083027	5486	13198											
PCDH10	57575	broad.mit.edu	37	chr4	134071416	134071416	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggggaatatcgctgaagatCtgggtctggacattacaaaa	12	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071416C>A	ENST00000264360.5	+	1	947	c.121C>A	c.(121-123)Ctg>Atg	p.L41M		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGCTGAAGATCTGGGTCTGGA	0.532													False	0	False	4:134071416	0	A	134071416	C	A	134071416	3	1	88	1	0	0	0	0	1	0	0	0	11575	912	32	3	123	3	PCDH10	4	134071416	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167	134071416	57082860	5487	13199											
PCDH10	57575	broad.mit.edu	37	chr4	134071914	134071914	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaccgcggtggacggaGgaggtgggggaggagtagga	23	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071914G>T	ENST00000264360.5	+	1	1445	c.619G>T	c.(619-621)Gga>Tga	p.G207*		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGGACggaggaggtggggg	0.692													False	0	False	4:134071914	0	T	134071914	G	T	134071914	4	4	88	1	0	0	0	0	0	1	0	0	11575	1001	35	3	621	3	PCDH10	4	134071914	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	498	134071914	57082362	5488	13200											
PCDH10	57575	broad.mit.edu	37	chr4	134072528	134072528	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagtcttcctttaagaaTtactacaccatcgttaccga	4	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134072528T>G	ENST00000264360.5	+	1	2059	c.1233T>G	c.(1231-1233)aaT>aaG	p.N411K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCTTTAAGAATTACTACACCA	0.607													False	0	False	4:134072528	0	G	134072528	T	G	134072528	3	3	88	1	0	0	0	0	1	0	0	0	11575	1490	52	4	1235	4	PCDH10	4	134072528	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	614	134072528	57081748	5489	13201											
PCDH10	57575	broad.mit.edu	37	chr4	134073073	134073073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgtgaggtgctgccccgctCggcggagccgggttacctgc	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073073C>T	ENST00000264360.5	+	1	2604	c.1778C>T	c.(1777-1779)tCg>tTg	p.S593L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGCCCCGCTCGGCGGAGCCG	0.657													False	0	False	4:134073073	0	T	134073073	C	T	134073073	3	4	88	1	0	0	0	0	1	0	0	0	11575	893	31	1	1780	1	PCDH10	4	134073073	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	545	134073073	57081203	5490	13202											
PCDH10	57575	broad.mit.edu	37	chr4	134073339	134073339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttcagctggtggatggcGccgtggagccccagggcggg	20	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073339G>A	ENST00000264360.5	+	1	2870	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGGATGGCGCCGTGGAGCC	0.716													False	0	False	4:134073339	0	A	134073339	G	A	134073339	3	1	88	1	0	0	0	0	1	0	0	0	11575	1087	38	1	2046	1	PCDH10	4	134073339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266	134073339	57080937	5491	13203											
PCDH10	57575	broad.mit.edu	37	chr4	134073466	134073466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcatcatcgcgttgggctCggtgtccttcatcttcctgc	9	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073466C>T	ENST00000264360.5	+	1	2997	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGTTGGGCTCGGTGTCCTTC	0.602													False	0	False	4:134073466	0	T	134073466	C	T	134073466	3	4	88	1	0	0	0	0	1	0	0	0	11575	893	31	1	2173	1	PCDH10	4	134073466	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	134073466	57080810	5492	13204											
PCDH10	57575	broad.mit.edu	37	chr4	134073477	134073477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttgggctcggtgtccttcAtcttcctgctggccatgatc	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073477A>G	ENST00000264360.5	+	1	3008	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGTCCTTCATCTTCCTGCT	0.592													False	0	False	4:134073477	0	G	134073477	A	G	134073477	3	3	88	1	0	0	0	0	1	0	0	0	11575	217	8	4	2184	4	PCDH10	4	134073477	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11	134073477	57080799	5493	13205											
PCDH10	57575	broad.mit.edu	37	chr4	134084171	134084171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcactgaggaatgtaaagCtctgggccactcagatcggt	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134084171C>A	ENST00000264360.5	+	4	3663	c.2837C>A	c.(2836-2838)gCt>gAt	p.A946D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAATGTAAAGCTCTGGGCCAC	0.483													False	0	False	4:134084171	0	A	134084171	C	A	134084171	3	1	88	1	0	0	0	0	1	0	0	0	11575	797	28	3	2911	3	PCDH10	4	134084171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10694	134084171	57070105	5494	13206											
PCDH18	54510	broad.mit.edu	37	chr4	138442595	138442595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcagagatgatgtgctgGtatccccagtgtcctcatcg	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138442595G>A	ENST00000344876.4	-	4	3382	c.2996C>T	c.(2995-2997)aCc>aTc	p.T999I	PCDH18_ENST00000511115.1_Missense_Mutation_p.T179I|PCDH18_ENST00000507846.1_Missense_Mutation_p.T778I|PCDH18_ENST00000412923.2_Missense_Mutation_p.T998I|PCDH18_ENST00000510305.1_Missense_Mutation_p.T210I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	999	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGATGTGCTGGTATCCCCAGT	0.517													False	0	False	4:138442595	0	A	138442595	G	A	138442595	3	1	88	1	0	0	0	0	1	0	0	0	11581	1261	44	2	415	2	PCDH18	4	138442595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4358424	138442595	52711681	5495	13207											
PCDH18	54510	broad.mit.edu	37	chr4	138451342	138451342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtatggatgtcacatgatCgtggatcaattatgaagata	11	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138451342C>T	ENST00000344876.4	-	1	2287	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R414Q|PCDH18_ENST00000412923.2_Missense_Mutation_p.R634Q|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	634	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTCACATGATCGTGGATCAAT	0.438													False	0	False	4:138451342	0	T	138451342	C	T	138451342	3	4	88	1	0	0	0	0	1	0	0	0	11581	884	31	1	1522	1	PCDH18	4	138451342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8747	138451342	52702934	5496	13208											
PCDH18	54510	broad.mit.edu	37	chr4	138452051	138452051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccatgtccatgaagctTacaaactatttctccattca	5	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138452051T>C	ENST00000344876.4	-	1	1578	c.1192A>G	c.(1192-1194)Aag>Gag	p.K398E	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.K178E|PCDH18_ENST00000412923.2_Missense_Mutation_p.K398E|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	398	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCATGAAGCTTACAAACTATT	0.343													False	0	False	4:138452051	0	C	138452051	T	C	138452051	3	2	88	1	0	0	0	0	1	0	0	0	11581	1763	61	4	2231	4	PCDH18	4	138452051	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	709	138452051	52702225	5497	13209											
PCDH18	54510	broad.mit.edu	37	chr4	138452324	138452324	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccacttgcttgaaaagagTcaaatgtcctctttcagaat	6	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138452324T>G	ENST00000344876.4	-	1	1305	c.919A>C	c.(919-921)Act>Cct	p.T307P	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.T87P|PCDH18_ENST00000412923.2_Missense_Mutation_p.T307P|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	307	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGAAAAGAGTCAAATGTCCT	0.378													False	0	False	4:138452324	0	G	138452324	T	G	138452324	3	3	88	1	0	0	0	0	1	0	0	0	11581	1667	58	4	2504	4	PCDH18	4	138452324	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	273	138452324	52701952	5498	13210											
SLC7A11	23657	broad.mit.edu	37	chr4	139163042	139163042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccttaggagagatgaagattCctgctccaatgatggtgcca	11	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:139163042C>A	ENST00000280612.5	-	1	461	c.182G>T	c.(181-183)gGa>gTa	p.G61V		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	61					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GATGAAGATTCCTGCTCCAAT	0.542													False	0	False	4:139163042	0	A	139163042	C	A	139163042	3	1	88	1	0	0	0	0	1	0	0	0	14774	855	30	3	1371	3	SLC7A11	4	139163042	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	710718	139163042	51991234	5499	13211											
NAA15	80155	broad.mit.edu	37	chr4	140270711	140270711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaactgggcctattacaaaGgcttggaaaaagcactcaag	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140270711G>T	ENST00000296543.5	+	7	1110	c.787G>T	c.(787-789)Ggc>Tgc	p.G263C	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.G263C	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	263					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CTATTACAAAGGCTTGGAAAA	0.343													False	0	True	4:140270711	0	T	140270711	G	T	140270711	3	4	88	1	0	0	0	0	1	0	0	0	10185	1000	35	3	813	3	NAA15	4	140270711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1107669	140270711	50883565	5500	13212											
MGST2	4258	broad.mit.edu	37	chr4	140599697	140599697	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatttccctttacttgcagGttattttgctttgcaagttg	7	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140599697G>A	ENST00000265498.1	+	2	311	c.59G>A	c.(58-60)aGt>aAt	p.S20N	MGST2_ENST00000506797.1_Splice_Site_p.S20N|MGST2_ENST00000515137.1_Intron	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN	microsomal glutathione S-transferase 2	20					glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	TTACTTGCAGGTTATTTTGCT	0.398													False	0	False	4:140599697	0	A	140599697	G	A	140599697	5	1	88	1	0	0	0	0	0	0	1	0	9628	1275	44	2	65	2	MGST2	4	140599697	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	328986	140599697	50554579	5501	13213											
MAML3	55534	broad.mit.edu	37	chr4	140640600	140640600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaacccccagctccgtcGccactgtaattgtatgacac	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140640600G>A	ENST00000509479.2	-	5	4150	c.3294C>T	c.(3292-3294)ggC>ggT	p.G1098G	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	1094					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CAGCTCCGTCGCCACTGTAAT	0.607													False	0	False	4:140640600	0	A	140640600	G	A	140640600	2	1	88	1	0	0	0	0	0	0	0	1	9274	1074	38	1		1	MAML3	4	140640600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40903	140640600	50513676	5502	13214											
MAML3	55534	broad.mit.edu	37	chr4	140811481	140811481	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcgcctggggagatcccatgGagacatgtgcgaagggagag	17	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140811481G>T	ENST00000509479.2	-	2	1965	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	MAML3_ENST00000327122.5_Missense_Mutation_p.S214Y	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	370					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGATCCCATGGAGACATGTGC	0.582													False	0	False	4:140811481	0	T	140811481	G	T	140811481	3	4	88	1	0	0	0	0	1	0	0	0	9274	1174	41	3	2315	3	MAML3	4	140811481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170881	140811481	50342795	5503	13215											
CLGN	1047	broad.mit.edu	37	chr4	141310389	141310389	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatctagtttagtcctttcGtactcttcttttgcgtactg	6	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141310389G>A	ENST00000325617.5	-	15	2262	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	CLGN_ENST00000537281.1_Nonsense_Mutation_p.R608*|CLGN_ENST00000414773.1_Nonsense_Mutation_p.R608*	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	608					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TAGTCCTTTCGTACTCTTCTT	0.373													False	0	False	4:141310389	0	A	141310389	G	A	141310389	4	1	88	1	0	0	0	0	0	1	0	0	3547	1153	40	1	14	1	CLGN	4	141310389	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	498908	141310389	49843887	5504	13216											
CLGN	1047	broad.mit.edu	37	chr4	141316994	141316994	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatagttaggattatcgacCagtggaggtctccatactcc	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141316994C>A	ENST00000325617.5	-	10	1568	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L	CLGN_ENST00000537281.1_Silent_p.L376L|CLGN_ENST00000414773.1_Silent_p.L376L	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	376					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GATTATCGACCAGTGGAGGTC	0.378													False	0	False	4:141316994	0	A	141316994	C	A	141316994	2	1	88	1	0	0	0	0	0	0	0	1	3547	581	21	3		3	CLGN	4	141316994	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6605	141316994	49837282	5505	13217											
CLGN	1047	broad.mit.edu	37	chr4	141317309	141317309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatcatcaagccagccaGcaggtttaacaacacttgaa	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141317309G>A	ENST00000325617.5	-	9	1375	c.935C>T	c.(934-936)gCt>gTt	p.A312V	CLGN_ENST00000537281.1_Missense_Mutation_p.A312V|CLGN_ENST00000414773.1_Missense_Mutation_p.A312V	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	312					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AAGCCAGCCAGCAGGTTTAAC	0.348													False	0	True	4:141317309	0	A	141317309	G	A	141317309	3	1	88	1	0	0	0	0	1	0	0	0	3547	971	34	2	925	2	CLGN	4	141317309	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	315	141317309	49836967	5506	13218											
ELMOD2	255520	broad.mit.edu	37	chr4	141461345	141461345	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaatcttctaatgcccacGaagaagttaaacgctagaat	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141461345G>A	ENST00000323570.3	+	6	555	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	141	ELMO.				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TAATGCCCACGAAGAAGTTAA	0.368													False	0	False	4:141461345	0	A	141461345	G	A	141461345	2	1	88	1	0	0	0	0	0	0	0	1	5101	1045	37	1		1	ELMOD2	4	141461345	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144036	141461345	49692931	5507	13219											
ELMOD2	255520	broad.mit.edu	37	chr4	141464612	141464612	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgtttctgacataggtattCttatgcaatagttggaatca	8	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141464612C>T	ENST00000323570.3	+	8	740	c.608C>T	c.(607-609)tCt>tTt	p.S203F		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	203	ELMO.				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					CATAGGTATTCTTATGCAATA	0.328													False	0	False	4:141464612	0	T	141464612	C	T	141464612	3	4	88	1	0	0	0	0	1	0	0	0	5101	913	32	2	634	2	ELMOD2	4	141464612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3267	141464612	49689664	5508	13220											
UCP1	7350	broad.mit.edu	37	chr4	141483492	141483492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgttgcgcaaaatccagCgataagagccgacaccaagt	10	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141483492C>T	ENST00000262999.3	-	5	739	c.664G>A	c.(664-666)Gct>Act	p.A222T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	222					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CAAAATCCAGCGATAAGAGCC	0.463													False	0	False	4:141483492	0	T	141483492	C	T	141483492	3	4	88	1	0	0	0	0	1	0	0	0	17014	768	27	1	265	1	UCP1	4	141483492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18880	141483492	49670784	5509	13221											
TBC1D9	23158	broad.mit.edu	37	chr4	141543376	141543376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatggccgagatttcataGtcactggccgaggtgagggg	16	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543376G>A	ENST00000442267.2	-	21	3848	c.3774C>T	c.(3772-3774)gaC>gaT	p.D1258D		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1258						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGATTTCATAGTCACTGGCCG	0.552													False	0	False	4:141543376	0	A	141543376	G	A	141543376	2	1	88	1	0	0	0	0	0	0	0	1	15709	1020	36	2		2	TBC1D9	4	141543376	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59884	141543376	49610900	5510	13222											
TBC1D9	23158	broad.mit.edu	37	chr4	141543813	141543813	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggggccaggctggccggcaGgggctcaacagactccacca	16	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543813G>T	ENST00000442267.2	-	21	3411	c.3337C>A	c.(3337-3339)Ctg>Atg	p.L1113M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1113						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGGCCGGCAGGGGCTCAACA	0.672													False	0	True	4:141543813	0	T	141543813	G	T	141543813	3	4	88	1	0	0	0	0	1	0	0	0	15709	991	35	3	467	3	TBC1D9	4	141543813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	437	141543813	49610463	5511	13223											
TBC1D9	23158	broad.mit.edu	37	chr4	141543992	141543992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggctggtcactgctgccGtggcgtggtacagctcctgc	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543992G>A	ENST00000442267.2	-	21	3232	c.3158C>T	c.(3157-3159)aCg>aTg	p.T1053M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1053						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CACTGCTGCCGTGGCGTGGTA	0.567													False	0	True	4:141543992	0	A	141543992	G	A	141543992	3	1	88	1	0	0	0	0	1	0	0	0	15709	1145	40	1	646	1	TBC1D9	4	141543992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179	141543992	49610284	5512	13224											
TBC1D9	23158	broad.mit.edu	37	chr4	141578910	141578910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgcatgcagtcgtacaGctgtgggacgtagtctcgtg	14	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141578910G>A	ENST00000442267.2	-	12	2052	c.1978C>T	c.(1978-1980)Ctg>Ttg	p.L660L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	660	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CAGTCGTACAGCTGTGGGACG	0.517													False	0	False	4:141578910	0	A	141578910	G	A	141578910	2	1	88	1	0	0	0	0	0	0	0	1	15709	962	34	2		2	TBC1D9	4	141578910	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34918	141578910	49575366	5513	13225											
TBC1D9	23158	broad.mit.edu	37	chr4	141590134	141590134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttcaacaccagctcccGcgttttctctgtgcggtaca	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141590134G>A	ENST00000442267.2	-	9	1599	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	509						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACCAGCTCCCGCGTTTTCTCT	0.562													False	0	True	4:141590134	0	A	141590134	G	A	141590134	3	1	88	1	0	0	0	0	1	0	0	0	15709	1086	38	1	2327	1	TBC1D9	4	141590134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11224	141590134	49564142	5514	13226											
TBC1D9	23158	broad.mit.edu	37	chr4	141591969	141591969	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctgagatcctctgcactaGaaagtctctatctttcaagt	6	10	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141591969G>T	ENST00000442267.2	-	7	1245	c.1171C>A	c.(1171-1173)Cta>Ata	p.L391I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	391						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCTGCACTAGAAAGTCTCTA	0.453													False	0	True	4:141591969	0	T	141591969	G	T	141591969	3	4	88	1	0	0	0	0	1	0	0	0	15709	933	33	3	2689	3	TBC1D9	4	141591969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1835	141591969	49562307	5515	13227											
INPP4B	8821	broad.mit.edu	37	chr4	143003299	143003299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgtctttggcactttTacaacaggtgaaacgaatac	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:143003299T>C	ENST00000513000.1	-	26	2960	c.2527A>G	c.(2527-2529)Aaa>Gaa	p.K843E	INPP4B_ENST00000308502.4_Missense_Mutation_p.K843E|INPP4B_ENST00000508116.1_Missense_Mutation_p.K843E|INPP4B_ENST00000262992.4_Missense_Mutation_p.K843E|INPP4B_ENST00000509777.1_Missense_Mutation_p.K843E	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	843					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTGGCACTTTTACAACAGGTG	0.418													False	0	True	4:143003299	0	C	143003299	T	C	143003299	3	2	88	1	0	0	0	0	1	0	0	0	7803	1763	61	4	255	4	INPP4B	4	143003299	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1411330	143003299	48150977	5516	13228											
USP38	84640	broad.mit.edu	37	chr4	144141476	144141476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgaatgctcgagcccgggCcctccaagctgcatctgctt	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:144141476C>T	ENST00000307017.4	+	10	3502	c.2996C>T	c.(2995-2997)gCc>gTc	p.A999V		NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	999					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CGAGCCCGGGCCCTCCAAGCT	0.428													False	0	True	4:144141476	0	T	144141476	C	T	144141476	3	4	88	1	0	0	0	0	1	0	0	0	17153	739	26	2	3034	2	USP38	4	144141476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1138177	144141476	47012800	5517	13229											
SMARCA5	8467	broad.mit.edu	37	chr4	144449155	144449155	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaatagatgaagctcacagGatcaaaaatgaaaaatctaa	7	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:144449155G>A	ENST00000283131.3	+	7	1398	c.936G>A	c.(934-936)agG>agA	p.R312R		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	312	Helicase ATP-binding.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AAGCTCACAGGATCAAAAATG	0.264													False	0	False	4:144449155	0	A	144449155	G	A	144449155	2	1	88	1	0	0	0	0	0	0	0	1	14851	1165	41	2		2	SMARCA5	4	144449155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	307679	144449155	46705121	5518	13230											
HHIP	64399	broad.mit.edu	37	chr4	145573905	145573905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcctctgctctgcaaagActattgcaaagaattctttt	5	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145573905A>G	ENST00000296575.3	+	2	1083	c.428A>G	c.(427-429)gAc>gGc	p.D143G	HHIP_ENST00000434550.2_Missense_Mutation_p.D143G|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	143						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTCTGCAAAGACTATTGCAAA	0.393													False	0	False	4:145573905	0	G	145573905	A	G	145573905	3	3	88	1	0	0	0	0	1	0	0	0	7139	275	10	4	434	4	HHIP	4	145573905	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1124750	145573905	45580371	5519	13231											
HHIP	64399	broad.mit.edu	37	chr4	145633201	145633201	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatcagccagaattctacaGataataaaggggaaagatta	8	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145633201G>T	ENST00000296575.3	+	8	2056	c.1401G>T	c.(1399-1401)caG>caT	p.Q467H		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	467						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAATTCTACAGATAATAAAGG	0.338													False	0	False	4:145633201	0	T	145633201	G	T	145633201	3	4	88	1	0	0	0	0	1	0	0	0	7139	933	33	3	1431	3	HHIP	4	145633201	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59296	145633201	45521075	5520	13232											
HHIP	64399	broad.mit.edu	37	chr4	145635402	145635402	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagccatcacttttagaattCaagccattcagtaatggtcc	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145635402C>T	ENST00000296575.3	+	9	2104	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	483						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTTTAGAATTCAAGCCATTCA	0.378													False	0	False	4:145635402	0	T	145635402	C	T	145635402	2	4	88	1	0	0	0	0	0	0	0	1	7139	825	29	2		2	HHIP	4	145635402	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2201	145635402	45518874	5521	13233											
HHIP	64399	broad.mit.edu	37	chr4	145658990	145658990	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctctgtaaaaaaggatatCttggtcctcaatgtgaacaa	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145658990C>T	ENST00000296575.3	+	13	2639	c.1984C>T	c.(1984-1986)Ctt>Ttt	p.L662F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	662	EGF-like 2.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAAAGGATATCTTGGTCCTCA	0.448													False	0	False	4:145658990	0	T	145658990	C	T	145658990	3	4	88	1	0	0	0	0	1	0	0	0	7139	913	32	2	2034	2	HHIP	4	145658990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23588	145658990	45495286	5522	13234											
ABCE1	6059	broad.mit.edu	37	chr4	146032209	146032209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcgtttgcatacagaaaGctgatatgtaggttacttta	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146032209G>A	ENST00000296577.4	+	8	1218	c.703G>A	c.(703-705)Gct>Act	p.A235T	ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	235	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CATACAGAAAGCTGATATGTA	0.358													False	0	True	4:146032209	0	A	146032209	G	A	146032209	3	1	88	1	0	0	0	0	1	0	0	0	64	971	34	2	729	2	ABCE1	4	146032209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	373219	146032209	45122067	5523	13235											
ABCE1	6059	broad.mit.edu	37	chr4	146044705	146044705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacctatctagcggatcgCgtcatcgtttttgatggtgt	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146044705C>T	ENST00000296577.4	+	16	2108	c.1593C>T	c.(1591-1593)cgC>cgT	p.R531R	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	531	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TAGCGGATCGCGTCATCGTTT	0.338													False	0	False	4:146044705	0	T	146044705	C	T	146044705	2	4	88	1	0	0	0	0	0	0	0	1	64	755	27	1		1	ABCE1	4	146044705	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12496	146044705	45109571	5524	13236											
OTUD4	54726	broad.mit.edu	37	chr4	146058757	146058757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccacccctaccagaatagCcccaatcacttttgtacttc	3	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146058757C>T	ENST00000454497.2	-	21	3112	c.2975G>A	c.(2974-2976)gGc>gAc	p.G992D	OTUD4_ENST00000447906.2_Missense_Mutation_p.G1057D|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1056							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACCAGAATAGCCCCAATCACT	0.413													False	0	True	4:146058757	0	T	146058757	C	T	146058757	3	4	88	1	0	0	0	0	1	0	0	0	11382	739	26	2	178	2	OTUD4	4	146058757	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14052	146058757	45095519	5525	13237											
OTUD4	54726	broad.mit.edu	37	chr4	146064545	146064545	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggagaagggcactctaacTtctttgactttgatggtgat	11	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146064545T>G	ENST00000454497.2	-	17	1597	c.1460A>C	c.(1459-1461)aAg>aCg	p.K487T	OTUD4_ENST00000447906.2_Missense_Mutation_p.K552T|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	551							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GCACTCTAACTTCTTTGACTT	0.373													False	0	False	4:146064545	0	G	146064545	T	G	146064545	3	3	88	1	0	0	0	0	1	0	0	0	11382	1609	56	4	1709	4	OTUD4	4	146064545	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5788	146064545	45089731	5526	13238											
C4orf51	646603	broad.mit.edu	37	chr4	146601532	146601532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaaaaaacaactggacaaGtccatgtgcagccaattttc	8	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146601532G>A	ENST00000438731.1	+	1	177	c.177G>A	c.(175-177)aaG>aaA	p.K59K		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	59										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AACTGGACAAGTCCATGTGCA	0.428													False	0	False	4:146601532	0	A	146601532	G	A	146601532	2	1	88	1	0	0	0	0	0	0	0	1	2294	1020	36	2		2	C4orf51	4	146601532	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	536987	146601532	44552744	5527	13239											
ZNF827	152485	broad.mit.edu	37	chr4	146824292	146824292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccataggatgcttctgacGgagtctctgaagagtttcca	10	11	2	3	rs149206051		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146824292G>A	ENST00000508784.1	-	2	346	c.119C>T	c.(118-120)cCg>cTg	p.P40L	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.P40L			Q17R98	ZN827_HUMAN	zinc finger protein 827	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGCTTCTGACGGAGTCTCTGA	0.532													False	0	False	4:146824292	0	A	146824292	G	A	146824292	3	1	88	1	0	0	0	0	1	0	0	0	18262	1116	39	1	3162	1	ZNF827	4	146824292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222760	146824292	44329984	5528	13240											
LSM6	0	broad.mit.edu	37	chr4	147108539	147108543	+	Splice_Site	DEL	GGTAA	GGTAA	-													catttatccgaggaaacaatGgtaacatttcttcgccctac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	GGTAA	GGTAA	-	-	GGTAA	GGTAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147108539_147108543delGGTAA	ENST00000502781.1	+	3	927	c.208delGGTAA	c.(208-210)ggt>gt	p.G70fs	LSM6_ENST00000296581.5_Splice_Site_p.G70fs			P62312	LSM6_HUMAN	LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae)	70					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing|rRNA processing|tRNA processing	cytosol|small nuclear ribonucleoprotein complex	protein binding|RNA binding					all_hematologic(180;0.151)					AGGAAACAATGGTAACATTTCTTCG	0.376													False	1	False	4:147108539	0	-	147108543	GGTAA	-	147108539	8	5	88	1	0	1	0	1	0	0	1	0	9122	1362	47	0	214	0	LSM6	4	147108539	Splice_Site	DEL	GGTAA	TCGA-IB-7651-01A-11D-2154-08	284247	147108539	44045737	5529	13241											
POU4F2	5458	broad.mit.edu	37	chr4	147561405	147561405	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcgccgcacatggccaccatGaaccccatgcaccaagcagc	9	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147561405G>T	ENST00000281321.3	+	2	923	c.675G>T	c.(673-675)atG>atT	p.M225I		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	225					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TGGCCACCATGAACCCCATGC	0.726													False	0	False	4:147561405	0	T	147561405	G	T	147561405	3	4	88	1	0	0	0	0	1	0	0	0	12348	1290	45	3	681	3	POU4F2	4	147561405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	452866	147561405	43592871	5530	13242											
POU4F2	5458	broad.mit.edu	37	chr4	147561477	147561477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcacatgggctgcatgagCgacgtggacgccgacccgcg	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147561477C>T	ENST00000281321.3	+	2	995	c.747C>T	c.(745-747)agC>agT	p.S249S		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	249					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCTGCATGAGCGACGTGGACG	0.697													False	0	False	4:147561477	0	T	147561477	C	T	147561477	2	4	88	1	0	0	0	0	0	0	0	1	12348	767	27	1		1	POU4F2	4	147561477	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72	147561477	43592799	5531	13243											
TTC29	83894	broad.mit.edu	37	chr4	147861051	147861051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcagggtggtcatttcGgactacaaaaagaaataagt	14	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147861051G>A	ENST00000513335.1	-	4	274	c.75C>T	c.(73-75)tcC>tcT	p.S25S	TTC29_ENST00000325106.4_5'UTR|RP11-292D4.2_ENST00000515530.1_RNA|TTC29_ENST00000398886.4_Silent_p.S25S			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	0							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGTCATTTCGGACTACAAAA	0.413													False	0	False	4:147861051	0	A	147861051	G	A	147861051	2	1	88	1	0	0	0	0	0	0	0	1	16780	1131	39	1		1	TTC29	4	147861051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299574	147861051	43293225	5532	13244											
PRMT10	90826	broad.mit.edu	37	chr4	148575447	148575447	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgccattttaaagccttcaTgatatgggatgttgttaagc	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:148575447T>G	ENST00000322396.6	-	9	1843	c.1601A>C	c.(1600-1602)cAt>cCt	p.H534P	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.H421P	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	534						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AAAGCCTTCATGATATGGGAT	0.413													False	0	False	4:148575447	0	G	148575447	T	G	148575447	3	3	88	1	0	0	0	0	1	0	0	0	12612	1464	51	4	952	4	PRMT10	4	148575447	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	714396	148575447	42578829	5533	13245											
ARHGAP10	79658	broad.mit.edu	37	chr4	148786101	148786101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaagaagtttgagtttgtGgaacctgtgagtattgccaa	12	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:148786101G>A	ENST00000336498.3	+	6	830	c.591G>A	c.(589-591)gtG>gtA	p.V197V		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	197	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGAGTTTGTGGAACCTGTGA	0.373													False	0	False	4:148786101	0	A	148786101	G	A	148786101	2	1	88	1	0	0	0	0	0	0	0	1	864	1335	47	2		2	ARHGAP10	4	148786101	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210654	148786101	42368175	5534	13246											
MAB21L2	10586	broad.mit.edu	37	chr4	151504454	151504454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcaacttcgtggacgaCggctcgctgcccggctgcgc	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151504454C>T	ENST00000317605.4	+	1	1378	c.273C>T	c.(271-273)gaC>gaT	p.D91D	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	91					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCGTGGACGACGGCTCGCTGC	0.602													False	0	False	4:151504454	0	T	151504454	C	T	151504454	2	4	88	1	0	0	0	0	0	0	0	1	9205	535	19	1		1	MAB21L2	4	151504454	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2718353	151504454	39649822	5535	13247											
MAB21L2	10586	broad.mit.edu	37	chr4	151504591	151504591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtttccagacgctggtggCccaggcggtggacaagtgca	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151504591C>T	ENST00000317605.4	+	1	1515	c.410C>T	c.(409-411)gCc>gTc	p.A137V	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	137					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ACGCTGGTGGCCCAGGCGGTG	0.602													False	0	True	4:151504591	0	T	151504591	C	T	151504591	3	4	88	1	0	0	0	0	1	0	0	0	9205	739	26	2	412	2	MAB21L2	4	151504591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	151504591	39649685	5536	13248											
LRBA	987	broad.mit.edu	37	chr4	151511917	151511917	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgacagagtatcatcatcGccttccaggaggatctcgtt	10	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151511917G>A	ENST00000535741.1	-	39	6614	c.6141C>T	c.(6139-6141)ggC>ggT	p.G2047G	LRBA_ENST00000357115.3_Silent_p.G2058G|LRBA_ENST00000510413.1_Silent_p.G2047G|LRBA_ENST00000507224.1_Silent_p.G2047G			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2058						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TATCATCATCGCCTTCCAGGA	0.428													False	0	True	4:151511917	0	A	151511917	G	A	151511917	2	1	88	1	0	0	0	0	0	0	0	1	8993	1074	38	1		1	LRBA	4	151511917	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7326	151511917	39642359	5537	13249											
LRBA	987	broad.mit.edu	37	chr4	151682954	151682954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttccttcattgacaagttCgataaaagcaaggcctgcat	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151682954C>T	ENST00000535741.1	-	35	6099	c.5626G>A	c.(5626-5628)Gaa>Aaa	p.E1876K	LRBA_ENST00000357115.3_Missense_Mutation_p.E1876K|LRBA_ENST00000510413.1_Missense_Mutation_p.E1876K|LRBA_ENST00000507224.1_Missense_Mutation_p.E1876K			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1876						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGACAAGTTCGATAAAAGCA	0.294													False	0	False	4:151682954	0	T	151682954	C	T	151682954	3	4	88	1	0	0	0	0	1	0	0	0	8993	893	31	1	3061	1	LRBA	4	151682954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171037	151682954	39471322	5538	13250											
LRBA	987	broad.mit.edu	37	chr4	151749384	151749384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagatagatcaccaagggCtccaaggcaggctggtggca	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151749384C>T	ENST00000535741.1	-	30	5592	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T	LRBA_ENST00000357115.3_Missense_Mutation_p.A1707T|LRBA_ENST00000510413.1_Missense_Mutation_p.A1707T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1707T			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1707						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCACCAAGGGCTCCAAGGCAG	0.453													False	0	True	4:151749384	0	T	151749384	C	T	151749384	3	4	88	1	0	0	0	0	1	0	0	0	8993	797	28	2	3588	2	LRBA	4	151749384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66430	151749384	39404892	5539	13251											
LRBA	987	broad.mit.edu	37	chr4	151793872	151793872	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	taagagcttgtaccctgattCcttcacttttcgatgccaga	7	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151793872C>A	ENST00000535741.1	-	18	2674	c.2201G>T	c.(2200-2202)gGa>gTa	p.G734V	LRBA_ENST00000357115.3_Missense_Mutation_p.G734V|LRBA_ENST00000510413.1_Missense_Mutation_p.G734V|LRBA_ENST00000507224.1_Missense_Mutation_p.G734V			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	734						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TACCCTGATTCCTTCACTTTT	0.308													False	0	False	4:151793872	0	A	151793872	C	A	151793872	3	1	88	1	0	0	0	0	1	0	0	0	8993	855	30	3	6554	3	LRBA	4	151793872	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44488	151793872	39360404	5540	13252											
LRBA	987	broad.mit.edu	37	chr4	151837610	151837610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagccttttccttttgacttTattgatgttacaatcaaaca	4	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151837610T>C	ENST00000535741.1	-	7	1310	c.837A>G	c.(835-837)atA>atG	p.I279M	LRBA_ENST00000357115.3_Missense_Mutation_p.I279M|LRBA_ENST00000510413.1_Missense_Mutation_p.I279M|LRBA_ENST00000507224.1_Missense_Mutation_p.I279M			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	279						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTTTTGACTTTATTGATGTTA	0.343													False	0	True	4:151837610	0	C	151837610	T	C	151837610	3	2	88	1	0	0	0	0	1	0	0	0	8993	1744	61	4	7962	4	LRBA	4	151837610	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43738	151837610	39316666	5541	13253											
SH3D19	152503	broad.mit.edu	37	chr4	152069321	152069321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgttgagttggaatgGtttttccattcacaggtctg	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:152069321G>T	ENST00000409598.4	-	11	2162	c.995C>A	c.(994-996)aCc>aAc	p.T332N	SH3D19_ENST00000427414.2_Missense_Mutation_p.T296N|SH3D19_ENST00000304527.4_Missense_Mutation_p.T332N|SH3D19_ENST00000424281.1_Missense_Mutation_p.T296N|SH3D19_ENST00000455740.1_Missense_Mutation_p.T332N|SH3D19_ENST00000514152.1_Missense_Mutation_p.T332N|SH3D19_ENST00000409252.2_Missense_Mutation_p.T332N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	332	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				AGTTGGAATGGTTTTTCCATT	0.438													False	0	True	4:152069321	0	T	152069321	G	T	152069321	3	4	88	1	0	0	0	0	1	0	0	0	14330	1261	44	3	1421	3	SH3D19	4	152069321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	231711	152069321	39084955	5542	13254											
SH3D19	152503	broad.mit.edu	37	chr4	152096417	152096417	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgtggagtaatttctggtttCttgggcagtcctgaggtttc	13	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:152096417C>A	ENST00000409598.4	-	7	1266	c.99G>T	c.(97-99)aaG>aaT	p.K33N	SH3D19_ENST00000427414.2_Missense_Mutation_p.K33N|SH3D19_ENST00000304527.4_Missense_Mutation_p.K33N|SH3D19_ENST00000424281.1_Missense_Mutation_p.K33N|SH3D19_ENST00000455740.1_Missense_Mutation_p.K33N|SH3D19_ENST00000514152.1_Missense_Mutation_p.K33N|SH3D19_ENST00000409252.2_Missense_Mutation_p.K33N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	33					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTTCTGGTTTCTTGGGCAGTC	0.428													False	0	True	4:152096417	0	A	152096417	C	A	152096417	3	1	88	1	0	0	0	0	1	0	0	0	14330	912	32	3	2333	3	SH3D19	4	152096417	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27096	152096417	39057859	5543	13255											
FBXW7	0	broad.mit.edu	37	chr4	153250829	153250829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagtaaacttactttgcCtgtgactgctgaccaaactt	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153250829C>T	ENST00000281708.4	-	8	2460	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	FBXW7_ENST00000393956.3_Missense_Mutation_p.G235S|FBXW7_ENST00000263981.5_Missense_Mutation_p.G331S|FBXW7_ENST00000603548.1_Missense_Mutation_p.G411S|FBXW7_ENST00000603841.1_Missense_Mutation_p.G411S|FBXW7_ENST00000296555.5_Missense_Mutation_p.G293S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	411					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTTACTTTGCCTGTGACTGCT	0.343			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								False	0	False	4:153250829	0	T	153250829	C	T	153250829	3	4	88	1	0	0	0	0	1	0	0	0	5809	681	24	2	912	2	FBXW7	4	153250829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1154412	153250829	37903447	5544	13256											
FBXW7	0	broad.mit.edu	37	chr4	153258977	153258977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagggagcaatgaaatgaAgtctcgttgaaactggggtt	13	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153258977A>G	ENST00000281708.4	-	5	2067	c.838T>C	c.(838-840)Ttc>Ctc	p.F280L	FBXW7_ENST00000393956.3_Missense_Mutation_p.F104L|FBXW7_ENST00000263981.5_Missense_Mutation_p.F200L|FBXW7_ENST00000603548.1_Missense_Mutation_p.F280L|FBXW7_ENST00000603841.1_Missense_Mutation_p.F280L|FBXW7_ENST00000296555.5_Missense_Mutation_p.F162L|RP11-461L13.2_ENST00000605147.1_RNA	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	280	F-box.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AATGAAATGAAGTCTCGTTGA	0.343			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								False	0	True	4:153258977	0	G	153258977	A	G	153258977	3	3	88	1	0	0	0	0	1	0	0	0	5809	72	3	4	1317	4	FBXW7	4	153258977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8148	153258977	37895299	5545	13257											
FHDC1	85462	broad.mit.edu	37	chr4	153896509	153896509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacctccagggttcccaggGcatggaggagacctcccagc	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153896509G>A	ENST00000511601.1	+	12	2254	c.2066G>A	c.(2065-2067)gGc>gAc	p.G689D	FHDC1_ENST00000260008.3_Missense_Mutation_p.G689D			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	689					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGTTCCCAGGGCATGGAGGAG	0.622													False	0	True	4:153896509	0	A	153896509	G	A	153896509	3	1	88	1	0	0	0	0	1	0	0	0	5916	1203	42	2	2108	2	FHDC1	4	153896509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637532	153896509	37257767	5546	13258											
FHDC1	85462	broad.mit.edu	37	chr4	153897279	153897279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacgccagaactccgtgCggagggcctccacaggcgcc	14	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153897279C>T	ENST00000511601.1	+	12	3024	c.2836C>T	c.(2836-2838)Cgg>Tgg	p.R946W	FHDC1_ENST00000260008.3_Missense_Mutation_p.R946W			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	946					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GAACTCCGTGCGGAGGGCCTC	0.716													False	0	False	4:153897279	0	T	153897279	C	T	153897279	3	4	88	1	0	0	0	0	1	0	0	0	5916	759	27	1	2878	1	FHDC1	4	153897279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	770	153897279	37256997	5547	13259											
FHDC1	85462	broad.mit.edu	37	chr4	153897796	153897796	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgaaggccagaggggCtggggaaagggcctccctcc	15	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153897796C>A	ENST00000511601.1	+	12	3541	c.3353C>A	c.(3352-3354)gCt>gAt	p.A1118D	FHDC1_ENST00000260008.3_Missense_Mutation_p.A1118D			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1118					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCCAGAGGGGCTGGGGAAAGG	0.657													False	0	True	4:153897796	0	A	153897796	C	A	153897796	3	1	88	1	0	0	0	0	1	0	0	0	5916	797	28	3	3395	3	FHDC1	4	153897796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	517	153897796	37256480	5548	13260											
TRIM2	23321	broad.mit.edu	37	chr4	154216605	154216605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgagcgagaagctgaaCgagctggccgaccaggactt	14	10	0	4	rs142242737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216605C>T	ENST00000338700.5	+	6	992	c.927C>T	c.(925-927)aaC>aaT	p.N309N	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Silent_p.N282N	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	282						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AGAAGCTGAACGAGCTGGCCG	0.582													False	0	False	4:154216605	0	T	154216605	C	T	154216605	2	4	88	1	0	0	0	0	0	0	0	1	16577	535	19	1		1	TRIM2	4	154216605	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	318809	154216605	36937671	5549	13261											
TRIM2	23321	broad.mit.edu	37	chr4	154216729	154216729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatcttaaccaccaacgccGttgcctcagagacagtggcc	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216729G>A	ENST00000338700.5	+	6	1116	c.1051G>A	c.(1051-1053)Gtt>Att	p.V351I	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.V324I	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	324						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CACCAACGCCGTTGCCTCAGA	0.607													False	0	False	4:154216729	0	A	154216729	G	A	154216729	3	1	88	1	0	0	0	0	1	0	0	0	16577	1145	40	1	1073	1	TRIM2	4	154216729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124	154216729	36937547	5550	13262											
TRIM2	23321	broad.mit.edu	37	chr4	154216846	154216846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtgcaaaaccggcaacGcctacctcaccgccgaactg	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216846G>A	ENST00000338700.5	+	6	1233	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.A363T	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	363						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AACCGGCAACGCCTACCTCAC	0.617													False	0	False	4:154216846	0	A	154216846	G	A	154216846	3	1	88	1	0	0	0	0	1	0	0	0	16577	1087	38	1	1190	1	TRIM2	4	154216846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	154216846	36937430	5551	13263											
TRIM2	23321	broad.mit.edu	37	chr4	154216921	154216921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggacaacaagaacggcAcctatgagtttttgtacact	8	10	0	2	rs111861590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216921A>G	ENST00000338700.5	+	6	1308	c.1243A>G	c.(1243-1245)Acc>Gcc	p.T415A	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.T388A	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	388						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAAGAACGGCACCTATGAGTT	0.567													False	0	False	4:154216921	0	G	154216921	A	G	154216921	3	3	88	1	0	0	0	0	1	0	0	0	16577	159	6	4	1265	4	TRIM2	4	154216921	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75	154216921	36937355	5552	13264											
TRIM2	23321	broad.mit.edu	37	chr4	154217082	154217082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggcgcgttaagtccccGgggagcggccacgtcaagca	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154217082G>A	ENST00000338700.5	+	6	1469	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Silent_p.P441P	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	441						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TTAAGTCCCCGGGGAGCGGCC	0.532													False	0	True	4:154217082	0	A	154217082	G	A	154217082	2	1	88	1	0	0	0	0	0	0	0	1	16577	1103	39	1		1	TRIM2	4	154217082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	154217082	36937194	5553	13265											
KIAA0922	23240	broad.mit.edu	37	chr4	154523409	154523409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaaattaatgggtataActgccaaggttatggattcg	10	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154523409A>G	ENST00000409959.3	+	22	2421	c.2372A>G	c.(2371-2373)aAc>aGc	p.N791S	KIAA0922_ENST00000409663.3_Missense_Mutation_p.N790S|KIAA0922_ENST00000440693.1_Missense_Mutation_p.N707S	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	790						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AATGGGTATAACTGCCAAGGT	0.383													False	0	False	4:154523409	0	G	154523409	A	G	154523409	3	3	88	1	0	0	0	0	1	0	0	0	8251	43	2	4	2458	4	KIAA0922	4	154523409	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	306327	154523409	36630867	5554	13266											
KIAA0922	23240	broad.mit.edu	37	chr4	154525552	154525552	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacctcagtaccaccagccaGacttgccagaaatttccagg	7	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154525552G>T	ENST00000409959.3	+	25	3437	c.3388G>T	c.(3388-3390)Gac>Tac	p.D1130Y	KIAA0922_ENST00000409663.3_Missense_Mutation_p.D1129Y|KIAA0922_ENST00000440693.1_Missense_Mutation_p.D1046Y	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1129						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCACCAGCCAGACTTGCCAGA	0.428													False	0	True	4:154525552	0	T	154525552	G	T	154525552	3	4	88	1	0	0	0	0	1	0	0	0	8251	942	33	3	3486	3	KIAA0922	4	154525552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2143	154525552	36628724	5555	13267											
KIAA0922	23240	broad.mit.edu	37	chr4	154553974	154553974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgtgattcaggagtcgGccccggttcataataggtac	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154553974G>A	ENST00000409959.3	+	32	4361	c.4312G>A	c.(4312-4314)Gcc>Acc	p.A1438T	KIAA0922_ENST00000409663.3_Missense_Mutation_p.A1437T|KIAA0922_ENST00000440693.1_Missense_Mutation_p.A1354T	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1437						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCAGGAGTCGGCCCCGGTTCA	0.512													False	0	True	4:154553974	0	A	154553974	G	A	154553974	3	1	88	1	0	0	0	0	1	0	0	0	8251	1203	42	2	4438	2	KIAA0922	4	154553974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28422	154553974	36600302	5556	13268											
KIAA0922	23240	broad.mit.edu	37	chr4	154557648	154557648	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtttcgcgcctatatgaacCtggacatatggactaccaca	8	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154557648C>A	ENST00000409959.3	+	35	4802	c.4753C>A	c.(4753-4755)Ctg>Atg	p.L1585M	KIAA0922_ENST00000409663.3_Missense_Mutation_p.L1584M|KIAA0922_ENST00000440693.1_Missense_Mutation_p.L1501M	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1584						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTATATGAACCTGGACATATG	0.468													False	0	False	4:154557648	0	A	154557648	C	A	154557648	3	1	88	1	0	0	0	0	1	0	0	0	8251	680	24	3	4891	3	KIAA0922	4	154557648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3674	154557648	36596628	5557	13269											
TLR2	7097	broad.mit.edu	37	chr4	154624431	154624431	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctggttcaagcccctttcTtctttaacattcttaaactt	3	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154624431T>A	ENST00000260010.6	+	1	1780	c.372T>A	c.(370-372)tcT>tcA	p.S124S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	124					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AGCCCCTTTCTTCTTTAACAT	0.363													False	0	False	4:154624431	0	A	154624431	T	A	154624431	2	1	88	1	0	0	0	0	0	0	0	1	16033	1596	56	5		5	TLR2	4	154624431	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	66783	154624431	36529845	5558	13270											
TLR2	7097	broad.mit.edu	37	chr4	154625213	154625213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattcagcctgtgaggatgCctggccctctctacaaactt	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154625213C>T	ENST00000260010.6	+	1	2562	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	385					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TGTGAGGATGCCTGGCCCTCT	0.348													False	0	False	4:154625213	0	T	154625213	C	T	154625213	3	4	88	1	0	0	0	0	1	0	0	0	16033	739	26	2	1156	2	TLR2	4	154625213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	782	154625213	36529063	5559	13271											
SFRP2	6423	broad.mit.edu	37	chr4	154702681	154702681	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccaccgcttcaccgaggtGatcaccagctccccaccctg	8	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154702681G>A	ENST00000274063.4	-	3	1094	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	270	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCACCGAGGTGATCACCAGCT	0.592													False	0	False	4:154702681	0	A	154702681	G	A	154702681	2	1	88	1	0	0	0	0	0	0	0	1	14243	1280	45	2		2	SFRP2	4	154702681	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77468	154702681	36451595	5560	13272											
DCHS2	54798	broad.mit.edu	37	chr4	155156624	155156624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccacagggaccacctcGttactgcagtcgtcagtttt	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156624G>A	ENST00000357232.4	-	25	7814	c.7815C>T	c.(7813-7815)aaC>aaT	p.N2605N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGACCACCTCGTTACTGCAGT	0.473													False	0	False	4:155156624	0	A	155156624	G	A	155156624	2	1	88	1	0	0	0	0	0	0	0	1	4313	1136	40	1		1	DCHS2	4	155156624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453943	155156624	35997652	5561	13273											
DCHS2	54798	broad.mit.edu	37	chr4	155156635	155156635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccacctcgttactgcagtCgtcagttttctggaaggctt	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156635C>T	ENST00000357232.4	-	25	7803	c.7804G>A	c.(7804-7806)Gac>Aac	p.D2602N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTACTGCAGTCGTCAGTTTTC	0.448													False	0	False	4:155156635	0	T	155156635	C	T	155156635	3	4	88	1	0	0	0	0	1	0	0	0	4313	884	31	1	950	1	DCHS2	4	155156635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11	155156635	35997641	5562	13274											
DCHS2	54798	broad.mit.edu	37	chr4	155157313	155157313	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttagcatgaatatcccctgTcaaagggtcaatgaggaaga	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157313T>G	ENST00000357232.4	-	25	7125	c.7126A>C	c.(7126-7128)Aca>Cca	p.T2376P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATATCCCCTGTCAAAGGGTCA	0.418													False	0	False	4:155157313	0	G	155157313	T	G	155157313	3	3	88	1	0	0	0	0	1	0	0	0	4313	1667	58	4	1628	4	DCHS2	4	155157313	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	678	155157313	35996963	5563	13275											
DCHS2	54798	broad.mit.edu	37	chr4	155157462	155157462	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtagaggaaataggcagaTtttctggaacaatacagctg	12	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157462T>G	ENST00000357232.4	-	25	6976	c.6977A>C	c.(6976-6978)aAt>aCt	p.N2326T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATAGGCAGATTTTCTGGAAC	0.393													False	0	True	4:155157462	0	G	155157462	T	G	155157462	3	3	88	1	0	0	0	0	1	0	0	0	4313	1493	52	4	1777	4	DCHS2	4	155157462	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	149	155157462	35996814	5564	13276											
DCHS2	54798	broad.mit.edu	37	chr4	155219556	155219556	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctcatcagtcagaaaAtactcagtttgcccattcag	7	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155219556A>C	ENST00000357232.4	-	18	4544	c.4545T>G	c.(4543-4545)taT>taG	p.Y1515*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGTCAGAAAATACTCAGTTT	0.478													False	0	True	4:155219556	0	C	155219556	A	C	155219556	4	2	88	1	0	0	0	0	0	1	0	0	4313	108	4	4	4237	4	DCHS2	4	155219556	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	62094	155219556	35934720	5565	13277											
DCHS2	54798	broad.mit.edu	37	chr4	155241935	155241935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctactgttcaaaaaactgCcgtcatcatctttggcattg	6	10	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155241935C>A	ENST00000357232.4	-	14	3250	c.3251G>T	c.(3250-3252)gGc>gTc	p.G1084V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAAAAACTGCCGTCATCATC	0.448													False	0	False	4:155241935	0	A	155241935	C	A	155241935	3	1	88	1	0	0	0	0	1	0	0	0	4313	739	26	3	5547	3	DCHS2	4	155241935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22379	155241935	35912341	5566	13278											
DCHS2	54798	broad.mit.edu	37	chr4	155253943	155253943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcaaataaatccagccCgtgtaagggcggattccaaa	10	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155253943C>T	ENST00000357232.4	-	9	1919	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	DCHS2_ENST00000339452.1_Silent_p.T1139T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAATCCAGCCCGTGTAAGGGC	0.522													False	0	True	4:155253943	0	T	155253943	C	T	155253943	2	4	88	1	0	0	0	0	0	0	0	1	4313	639	23	1		1	DCHS2	4	155253943	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12008	155253943	35900333	5567	13279											
DCHS2	54798	broad.mit.edu	37	chr4	155254182	155254182	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggctgcctgaggatgcaCgccttggtcctcggccctga	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254182C>T	ENST00000357232.4	-	9	1680	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M	DCHS2_ENST00000339452.1_Missense_Mutation_p.V1060M	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAGGATGCACGCCTTGGTCC	0.612													False	0	False	4:155254182	0	T	155254182	C	T	155254182	3	4	88	1	0	0	0	0	1	0	0	0	4313	536	19	1	7233	1	DCHS2	4	155254182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	155254182	35900094	5568	13280											
DCHS2	54798	broad.mit.edu	37	chr4	155254359	155254359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctgtcttccgcacgtgCgaggtacaaggctgtgccag	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254359C>T	ENST00000357232.4	-	9	1503	c.1504G>A	c.(1504-1506)Gca>Aca	p.A502T	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.A1001T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCGCACGTGCGAGGTACAAG	0.597													False	0	False	4:155254359	0	T	155254359	C	T	155254359	3	4	88	1	0	0	0	0	1	0	0	0	4313	768	27	1	7410	1	DCHS2	4	155254359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177	155254359	35899917	5569	13281											
DCHS2	54798	broad.mit.edu	37	chr4	155278477	155278477	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacctctggactatagagtcCtaattagggaaaaggagcca	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155278477C>A	ENST00000357232.4	-	6	694		c.e6-1		DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctatagagtcctaattaggga	0.428													False	0	False	4:155278477	0	A	155278477	C	A	155278477	5	1	88	1	0	0	0	0	0	0	1	0	4313	695	24	3	8232	3	DCHS2	4	155278477	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24118	155278477	35875799	5570	13282											
DCHS2	54798	broad.mit.edu	37	chr4	155298572	155298572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaataaagccatagagtcCtgaatctgcatcagaggctg	9	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155298572C>T	ENST00000357232.4	-	3	258	c.259G>A	c.(259-261)Gga>Aga	p.G87R	DCHS2_ENST00000339452.1_Missense_Mutation_p.G693R	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCATAGAGTCCTGAATCTGCA	0.433													False	0	False	4:155298572	0	T	155298572	C	T	155298572	3	4	88	1	0	0	0	0	1	0	0	0	4313	690	24	2	8679	2	DCHS2	4	155298572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20095	155298572	35855704	5571	13283											
PLRG1	5356	broad.mit.edu	37	chr4	155465619	155465619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtagagtttccacggtgggTgccactggggttttggcatt	15	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155465619T>C	ENST00000499023.2	-	7	698	c.572A>G	c.(571-573)cAc>cGc	p.H191R	PLRG1_ENST00000302078.5_Missense_Mutation_p.H182R|PLRG1_ENST00000393905.2_Missense_Mutation_p.H191R	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	191						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CCACGGTGGGTGCCACTGGGG	0.423													False	0	True	4:155465619	0	C	155465619	T	C	155465619	3	2	88	1	0	0	0	0	1	0	0	0	12175	1696	59	4	1008	4	PLRG1	4	155465619	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	167047	155465619	35688657	5572	13284											
FGB	2244	broad.mit.edu	37	chr4	155487037	155487037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgaggcctgccccaccGcccatcagtggaggtggcta	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155487037G>A	ENST00000302068.4	+	2	255	c.192G>A	c.(190-192)ccG>ccA	p.P64P	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	64			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGCCCCACCGCCCATCAGTG	0.557													False	0	True	4:155487037	0	A	155487037	G	A	155487037	2	1	88	1	0	0	0	0	0	0	0	1	5871	1074	38	1		1	FGB	4	155487037	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21418	155487037	35667239	5573	13285											
FGB	2244	broad.mit.edu	37	chr4	155487113	155487113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaagtagaaagaaaagccCctgatgctggaggctgtctt	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155487113C>A	ENST00000302068.4	+	2	331	c.268C>A	c.(268-270)Cct>Act	p.P90T	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	90			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAGAAAAGCCCCTGATGCTGG	0.572													False	0	True	4:155487113	0	A	155487113	C	A	155487113	3	1	88	1	0	0	0	0	1	0	0	0	5871	623	22	3	274	3	FGB	4	155487113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76	155487113	35667163	5574	13286											
FGB	2244	broad.mit.edu	37	chr4	155490440	155490440	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaaccaacacagatgggaaGaattactgtggcctaccagg	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155490440G>T	ENST00000302068.4	+	6	1002	c.939G>T	c.(937-939)aaG>aaT	p.K313N	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Missense_Mutation_p.K94N	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	313	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAGATGGGAAGAATTACTGTG	0.378													False	0	False	4:155490440	0	T	155490440	G	T	155490440	3	4	88	1	0	0	0	0	1	0	0	0	5871	933	33	3	961	3	FGB	4	155490440	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3327	155490440	35663836	5575	13287											
FGB	2244	broad.mit.edu	37	chr4	155490772	155490772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagacaaagtaaaggctcaCtatggaggattcactgtaca	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155490772C>A	ENST00000302068.4	+	7	1128	c.1065C>A	c.(1063-1065)caC>caA	p.H355Q	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.H136Q	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	355	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAAAGGCTCACTATGGAGGAT	0.438													False	0	False	4:155490772	0	A	155490772	C	A	155490772	3	1	88	1	0	0	0	0	1	0	0	0	5871	564	20	3	1091	3	FGB	4	155490772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332	155490772	35663504	5576	13288											
FGA	2243	broad.mit.edu	37	chr4	155505940	155505940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcttgatattgaaaatgCcactttgggtacctgaagga	11	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155505940C>T	ENST00000302053.3	-	6	2015	c.1937G>A	c.(1936-1938)gGc>gAc	p.G646D		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	646	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATTGAAAATGCCACTTTGGGT	0.378													False	0	False	4:155505940	0	T	155505940	C	T	155505940	3	4	88	1	0	0	0	0	1	0	0	0	5870	739	26	2	667	2	FGA	4	155505940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15168	155505940	35648336	5577	13289											
FGA	2243	broad.mit.edu	37	chr4	155507398	155507398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagagcctgggctatctgGcctaaaacttccagattcag	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155507398G>A	ENST00000302053.3	-	5	1261	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	FGA_ENST00000403106.3_Missense_Mutation_p.P395S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	395					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGGCTATCTGGCCTAAAACTT	0.537													False	0	False	4:155507398	0	A	155507398	G	A	155507398	3	1	88	1	0	0	0	0	1	0	0	0	5870	1203	42	2	1469	2	FGA	4	155507398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1458	155507398	35646878	5578	13290											
FGA	2243	broad.mit.edu	37	chr4	155508756	155508756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgactttgcgcttcaggaCttcaattctgcttctcagat	7	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155508756C>T	ENST00000302053.3	-	4	496	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	FGA_ENST00000403106.3_Missense_Mutation_p.V140I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	140					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CGCTTCAGGACTTCAATTCTG	0.403													False	0	False	4:155508756	0	T	155508756	C	T	155508756	3	4	88	1	0	0	0	0	1	0	0	0	5870	565	20	2	2238	2	FGA	4	155508756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1358	155508756	35645520	5579	13291											
FGG	2266	broad.mit.edu	37	chr4	155526150	155526150	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcatggaataccaccgggTtttccaagtggcccaaataa	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155526150T>G	ENST00000404648.3	-	9	1437	c.1198A>C	c.(1198-1200)Acc>Ccc	p.T400P	FGG_ENST00000336098.3_Missense_Mutation_p.T400P|FGG_ENST00000407946.1_Missense_Mutation_p.T408P|FGG_ENST00000405164.1_Missense_Mutation_p.T408P	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	400	Fibrinogen C-terminal.|Gamma-chain polymerization, binding amino end of another fibrin alpha chain.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TACCACCGGGTTTTCCAAGTG	0.418													False	0	True	4:155526150	0	G	155526150	T	G	155526150	3	3	88	1	0	0	0	0	1	0	0	0	5910	1725	60	4	186	4	FGG	4	155526150	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17394	155526150	35628126	5580	13292											
FGG	2266	broad.mit.edu	37	chr4	155528027	155528027	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactaggatcatcgccaaaaTcaaagccatcaaaggcatct	6	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155528027T>G	ENST00000404648.3	-	8	1198	c.959A>C	c.(958-960)gAt>gCt	p.D320A	FGG_ENST00000336098.3_Missense_Mutation_p.D320A|FGG_ENST00000407946.1_Missense_Mutation_p.D328A|FGG_ENST00000405164.1_Missense_Mutation_p.D328A	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	320	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ATCGCCAAAATCAAAGCCATC	0.468													False	0	True	4:155528027	0	G	155528027	T	G	155528027	3	3	88	1	0	0	0	0	1	0	0	0	5910	1435	50	4	429	4	FGG	4	155528027	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1877	155528027	35626249	5581	13293											
RBM46	166863	broad.mit.edu	37	chr4	155719270	155719270	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctattcccaaggaaaagaaGaaagaagaaattttagatga	9	4	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155719270G>T	ENST00000510397.1	+	3	638	c.459G>T	c.(457-459)aaG>aaT	p.K153N	RBM46_ENST00000281722.3_Missense_Mutation_p.K153N|RBM46_ENST00000514866.1_Missense_Mutation_p.K153N	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	153	RRM 2.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AGGAAAAGAAGAAAGAAGAAA	0.328													False	0	True	4:155719270	0	T	155719270	G	T	155719270	3	4	88	1	0	0	0	0	1	0	0	0	13219	933	33	3	465	3	RBM46	4	155719270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191243	155719270	35435006	5582	13294											
RBM46	166863	broad.mit.edu	37	chr4	155749142	155749142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttatccaggctatcctttgTcaccaacaatatcacttgct	4	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155749142T>C	ENST00000281722.3	+	5	1760	c.1525T>C	c.(1525-1527)Tca>Cca	p.S509P	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	509							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CTATCCTTTGTCACCAACAAT	0.433													False	0	False	4:155749142	0	C	155749142	T	C	155749142	3	2	88	1	0	0	0	0	1	0	0	0	13219	1667	58	4	1539	4	RBM46	4	155749142	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29872	155749142	35405134	5583	13295											
NPY2R	4887	broad.mit.edu	37	chr4	156135449	156135449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggggagtggaaaatgggtCctgtcctgtgccacctggtg	17	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156135449C>T	ENST00000329476.3	+	2	847	c.358C>T	c.(358-360)Cct>Tct	p.P120S	NPY2R_ENST00000506608.1_Missense_Mutation_p.P120S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	120					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAAATGGGTCCTGTCCTGTG	0.517													False	0	True	4:156135449	0	T	156135449	C	T	156135449	3	4	88	1	0	0	0	0	1	0	0	0	10677	855	30	2	360	2	NPY2R	4	156135449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	386307	156135449	35018827	5584	13296											
NPY2R	4887	broad.mit.edu	37	chr4	156136031	156136031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagtgttccacatcatcGccatgtgctccacttttgcc	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156136031G>A	ENST00000329476.3	+	2	1429	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	NPY2R_ENST00000506608.1_Missense_Mutation_p.A314T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	314					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCACATCATCGCCATGTGCTC	0.537													False	0	False	4:156136031	0	A	156136031	G	A	156136031	3	1	88	1	0	0	0	0	1	0	0	0	10677	1087	38	1	942	1	NPY2R	4	156136031	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	582	156136031	35018245	5585	13297											
MAP9	79884	broad.mit.edu	37	chr4	156296174	156296174	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgctcttattagctcatcCtgaaatgagatactgaaatc	6	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156296174C>T	ENST00000311277.4	-	3	339		c.e3-1		MAP9_ENST00000515654.1_Splice_Site|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Splice_Site	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9						cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTAGCTCATCCTGAAATGAGA	0.368													False	0	False	4:156296174	0	T	156296174	C	T	156296174	5	4	88	1	0	0	0	0	0	0	1	0	9337	695	24	2	1916	2	MAP9	4	156296174	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160143	156296174	34858102	5586	13298											
GUCY1A3	2982	broad.mit.edu	37	chr4	156631699	156631699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attatgtgatttcaggagttCcagtggaggttatcaaagaa	11	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156631699C>T	ENST00000296518.7	+	6	591	c.382C>T	c.(382-384)Cca>Tca	p.P128S	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P128S|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P128S|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P128S			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	128					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCAGGAGTTCCAGTGGAGGT	0.388													False	0	False	4:156631699	0	T	156631699	C	T	156631699	3	4	88	1	0	0	0	0	1	0	0	0	6941	855	30	2	396	2	GUCY1A3	4	156631699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335525	156631699	34522577	5587	13299											
GUCY1B3	2983	broad.mit.edu	37	chr4	156717528	156717528	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgtatcttgccttttcaaGgaaggattgttggatgtgga	13	4	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156717528G>T	ENST00000264424.8	+	8	925		c.e8-1		GUCY1B3_ENST00000505764.1_Splice_Site|GUCY1B3_ENST00000502959.1_Splice_Site|GUCY1B3_ENST00000503520.1_Splice_Site|GUCY1B3_ENST00000513437.1_Splice_Site|GUCY1B3_ENST00000505154.1_Splice_Site|GUCY1B3_ENST00000507146.1_Splice_Site	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3						blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GCCTTTTCAAGGAAGGATTGT	0.428													False	0	True	4:156717528	0	T	156717528	G	T	156717528	5	4	88	1	0	0	0	0	0	0	1	0	6942	1014	35	3	873	3	GUCY1B3	4	156717528	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85829	156717528	34436748	5588	13300											
TDO2	6999	broad.mit.edu	37	chr4	156840997	156840997	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtttttccagtgataggtAcaaggtatttgtagatttat	9	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156840997A>G	ENST00000536354.2	+	12	1140	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	359					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	AGTGATAGGTACAAGGTATTT	0.303													False	0	False	4:156840997	0	G	156840997	A	G	156840997	3	3	88	1	0	0	0	0	1	0	0	0	15809	391	14	4	1122	4	TDO2	4	156840997	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	123469	156840997	34313279	5589	13301											
CTSO	1519	broad.mit.edu	37	chr4	156849530	156849530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatgggcataaccatctaCtccccaagaacttccccagg	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156849530C>T	ENST00000433477.3	-	7	958	c.889G>A	c.(889-891)Gta>Ata	p.V297I		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	297					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TAACCATCTACTCCCCAAGAA	0.343													False	0	False	4:156849530	0	T	156849530	C	T	156849530	3	4	88	1	0	0	0	0	1	0	0	0	4065	565	20	2	84	2	CTSO	4	156849530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8533	156849530	34304746	5590	13302											
PDGFC	56034	broad.mit.edu	37	chr4	157689048	157689048	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccagaaaatggtatcGgttctctttagttcttccct	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:157689048G>A	ENST00000502773.1	-	5	1288	c.798C>T	c.(796-798)acC>acT	p.T266T	PDGFC_ENST00000542208.1_Silent_p.T111T|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000541126.1_Silent_p.T103T	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	266					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AAATGGTATCGGTTCTCTTTA	0.453													False	0	False	4:157689048	0	A	157689048	G	A	157689048	2	1	88	1	0	0	0	0	0	0	0	1	11727	1103	39	1		1	PDGFC	4	157689048	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	839518	157689048	33465228	5591	13303											
PDGFC	56034	broad.mit.edu	37	chr4	157891977	157891977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaactggaatttactacTcaggttggattccgcctgag	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:157891977T>C	ENST00000502773.1	-	1	569	c.79A>G	c.(79-81)Agt>Ggt	p.S27G	PDGFC_ENST00000422544.2_Missense_Mutation_p.S27G|PDGFC_ENST00000541126.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	27					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AATTTACTACTCAGGTTGGAT	0.542											OREG0016375	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	4:157891977	0	C	157891977	T	C	157891977	3	2	88	1	0	0	0	0	1	0	0	0	11727	1551	54	4	982	4	PDGFC	4	157891977	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	202929	157891977	33262299	5592	13304											
GLRB	2743	broad.mit.edu	37	chr4	158057850	158057850	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtccttgtcagcatgaGgtactcttttatatttcata	7	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:158057850G>A	ENST00000264428.4	+	5	797	c.527G>A	c.(526-528)aGg>aAg	p.R176K	GLRB_ENST00000541722.1_Splice_Site_p.R176K|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Splice_Site_p.R176K	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	176					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GTCAGCATGAGGTACTCTTTT	0.313													False	0	False	4:158057850	0	A	158057850	G	A	158057850	5	1	88	1	0	0	0	0	0	0	1	0	6503	1014	35	2	541	2	GLRB	4	158057850	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165873	158057850	33096426	5593	13305											
FAM198B	51313	broad.mit.edu	37	chr4	159091641	159091641	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaactctgctttcctgCtcacagacggcagggtcctg	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159091641C>A	ENST00000296530.8	-	2	1508	c.887G>T	c.(886-888)aGc>aTc	p.S296I	FAM198B_ENST00000592057.1_Missense_Mutation_p.S296I|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Missense_Mutation_p.S296I|FAM198B_ENST00000393807.5_Missense_Mutation_p.S296I	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	296						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGCTTTCCTGCTCACAGACGG	0.502											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	4:159091641	0	A	159091641	C	A	159091641	3	1	88	1	0	0	0	0	1	0	0	0	5565	797	28	3	793	3	FAM198B	4	159091641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1033791	159091641	32062635	5594	13306											
FAM198B	51313	broad.mit.edu	37	chr4	159091910	159091910	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggcgctctcgctgtagatCctaatgttgctctccctgga	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159091910C>T	ENST00000296530.8	-	2	1239	c.618G>A	c.(616-618)agG>agA	p.R206R	FAM198B_ENST00000592057.1_Silent_p.R206R|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Silent_p.R206R|FAM198B_ENST00000393807.5_Silent_p.R206R	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	206						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CGCTGTAGATCCTAATGTTGC	0.632											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	4:159091910	0	T	159091910	C	T	159091910	2	4	88	1	0	0	0	0	0	0	0	1	5565	854	30	2		2	FAM198B	4	159091910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	269	159091910	32062366	5595	13307											
RXFP1	59350	broad.mit.edu	37	chr4	159566237	159566237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtcatttgcatgcgacCttatatcaggtctgagaaca	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159566237C>T	ENST00000307765.5	+	15	1543	c.1292C>T	c.(1291-1293)cCt>cTt	p.P431L	RXFP1_ENST00000343542.5_Missense_Mutation_p.P383L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P326L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P350L|RXFP1_ENST00000470033.1_Missense_Mutation_p.P398L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	431						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGCATGCGACCTTATATCAGG	0.378													False	0	False	4:159566237	0	T	159566237	C	T	159566237	3	4	88	1	0	0	0	0	1	0	0	0	13838	681	24	2	1350	2	RXFP1	4	159566237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	474327	159566237	31588039	5596	13308											
C4orf46	201725	broad.mit.edu	37	chr4	159592872	159592872	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggccgcccggggaagatgCtgcagaggcgtctgaagagg	19	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159592872C>A	ENST00000379205.4	-	1	326	c.82G>T	c.(82-84)Gca>Tca	p.A28S	C4orf46_ENST00000508457.1_Missense_Mutation_p.A28S|C4orf46_ENST00000508836.1_Intron	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	28										kidney(1)|lung(3)|skin(1)	5						GGGGAAGATGCTGCAGAGGCG	0.672													False	0	False	4:159592872	0	A	159592872	C	A	159592872	3	1	88	1	0	0	0	0	1	0	0	0	2291	797	28	3	267	3	C4orf46	4	159592872	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26635	159592872	31561404	5597	13309											
ETFDH	2110	broad.mit.edu	37	chr4	159606330	159606330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgggcgaacaagcagaaGcccttggtgttgaagtatac	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159606330G>A	ENST00000511912.1	+	5	897	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	ETFDH_ENST00000307738.5_Missense_Mutation_p.A142T	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	189					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ACAAGCAGAAGCCCTTGGTGT	0.358													False	0	True	4:159606330	0	A	159606330	G	A	159606330	3	1	88	1	0	0	0	0	1	0	0	0	5303	971	34	2	583	2	ETFDH	4	159606330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13458	159606330	31547946	5598	13310											
ETFDH	2110	broad.mit.edu	37	chr4	159627858	159627858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacccgatggacagatcagtTttgacctcttgtcatctgtg	9	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159627858T>G	ENST00000511912.1	+	12	1878	c.1546T>G	c.(1546-1548)Ttt>Gtt	p.F516V	ETFDH_ENST00000307738.5_Missense_Mutation_p.F469V	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	516					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ACAGATCAGTTTTGACCTCTT	0.438													False	0	True	4:159627858	0	G	159627858	T	G	159627858	3	3	88	1	0	0	0	0	1	0	0	0	5303	1841	64	4	1592	4	ETFDH	4	159627858	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21528	159627858	31526418	5599	13311											
ETFDH	2110	broad.mit.edu	37	chr4	159627874	159627874	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagttttgacctcttgtcatCtgtggctctgagtggtacta	10	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159627874C>A	ENST00000511912.1	+	12	1894	c.1562C>A	c.(1561-1563)tCt>tAt	p.S521Y	ETFDH_ENST00000307738.5_Missense_Mutation_p.S474Y	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	521					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CTCTTGTCATCTGTGGCTCTG	0.438													False	0	False	4:159627874	0	A	159627874	C	A	159627874	3	1	88	1	0	0	0	0	1	0	0	0	5303	913	32	3	1608	3	ETFDH	4	159627874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	159627874	31526402	5600	13312											
FNIP2	57600	broad.mit.edu	37	chr4	159790058	159790058	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagtgaggctgctgatgTggctcaggacccgcaggttt	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159790058T>C	ENST00000264433.6	+	13	2345	c.2270T>C	c.(2269-2271)gTg>gCg	p.V757A	FNIP2_ENST00000379346.3_Missense_Mutation_p.V780A	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	757	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCTGCTGATGTGGCTCAGGAC	0.537													False	0	False	4:159790058	0	C	159790058	T	C	159790058	3	2	88	1	0	0	0	0	1	0	0	0	6016	1696	59	4	2320	4	FNIP2	4	159790058	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	162184	159790058	31364218	5601	13313											
RAPGEF2	9693	broad.mit.edu	37	chr4	160251584	160251584	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctataggacttttctTtctagcccaatggaagtggg	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160251584T>G	ENST00000264431.4	+	7	1337	c.918T>G	c.(916-918)ctT>ctG	p.L306L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	306	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGACTTTTCTTTCTAGCCCAA	0.383													False	0	True	4:160251584	0	G	160251584	T	G	160251584	2	3	88	1	0	0	0	0	0	0	0	1	13123	1828	64	4		4	RAPGEF2	4	160251584	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	461526	160251584	30902692	5602	13314											
RAPGEF2	9693	broad.mit.edu	37	chr4	160262774	160262774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttcagatgaagatgctcagGagttgttgagagagagtcaa	14	4	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160262774G>A	ENST00000264431.4	+	14	2529	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	704					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AGATGCTCAGGAGTTGTTGAG	0.398													False	0	False	4:160262774	0	A	160262774	G	A	160262774	3	1	88	1	0	0	0	0	1	0	0	0	13123	1175	41	2	2164	2	RAPGEF2	4	160262774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11190	160262774	30891502	5603	13315											
RAPGEF2	9693	broad.mit.edu	37	chr4	160273849	160273849	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcaggctatactttggCtcccagtggtactgtggata	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160273849C>A	ENST00000264431.4	+	21	3814	c.3395C>A	c.(3394-3396)gCt>gAt	p.A1132D		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1132	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.A1120V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TATACTTTGGCTCCCAGTGGT	0.373													False	0	False	4:160273849	0	A	160273849	C	A	160273849	3	1	88	1	0	0	0	0	1	0	0	0	13123	797	28	3	3477	3	RAPGEF2	4	160273849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11075	160273849	30880427	5604	13316											
RAPGEF2	9693	broad.mit.edu	37	chr4	160277266	160277266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgaacgagtctgacccgcGcctcgccccctatcagtccc	8	20	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160277266G>A	ENST00000264431.4	+	23	4849	c.4430G>A	c.(4429-4431)cGc>cAc	p.R1477H		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1477					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCTGACCCGCGCCTCGCCCCC	0.532													False	0	False	4:160277266	0	A	160277266	G	A	160277266	3	1	88	1	0	0	0	0	1	0	0	0	13123	1087	38	1	4520	1	RAPGEF2	4	160277266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3417	160277266	30877010	5605	13317											
FSTL5	56884	broad.mit.edu	37	chr4	162307033	162307033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtattgaccaaacaagcCactgtcctggatttgcctgt	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:162307033C>T	ENST00000306100.5	-	16	2846	c.2410G>A	c.(2410-2412)Ggc>Agc	p.G804S	FSTL5_ENST00000536695.1_Missense_Mutation_p.G803S|FSTL5_ENST00000427802.2_Missense_Mutation_p.G794S|FSTL5_ENST00000379164.4_Missense_Mutation_p.G803S|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	804						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCAAACAAGCCACTGTCCTGG	0.443													False	0	False	4:162307033	0	T	162307033	C	T	162307033	3	4	88	1	0	0	0	0	1	0	0	0	6122	594	21	2	137	2	FSTL5	4	162307033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2029767	162307033	28847243	5606	13318											
NPY1R	0	broad.mit.edu	37	chr4	164246480	164246480	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcattatcatcattgTtgttgatttttttaaatgcg	5	4	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164246480T>A	ENST00000296533.2	-	3	1661	c.1130A>T	c.(1129-1131)aAc>aTc	p.N377I	NPY1R_ENST00000509586.1_Missense_Mutation_p.N134I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	377					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATCATCATTGTTGTTGATTTT	0.363													False	0	True	4:164246480	0	A	164246480	T	A	164246480	3	1	88	1	0	0	0	0	1	0	0	0	10676	1725	60	5	28	5	NPY1R	4	164246480	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1939447	164246480	26907796	5607	13319											
NPY1R	0	broad.mit.edu	37	chr4	164246499	164246499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgttgatttttttaaatgCgactgggcttgcttgcttca	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164246499C>T	ENST00000296533.2	-	3	1642	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	NPY1R_ENST00000509586.1_Missense_Mutation_p.A128T	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	371					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTTTAAATGCGACTGGGCTT	0.383													False	0	False	4:164246499	0	T	164246499	C	T	164246499	3	4	88	1	0	0	0	0	1	0	0	0	10676	768	27	1	47	1	NPY1R	4	164246499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	164246499	26907777	5608	13320											
TRIM60	166655	broad.mit.edu	37	chr4	165962546	165962546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctattctctatacttttaAcgattgtttcacagaagccg	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:165962546A>G	ENST00000512596.1	+	3	1538	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S	TRIM60_ENST00000341062.5_Missense_Mutation_p.N441S|TRIM60_ENST00000508504.1_Missense_Mutation_p.N441S	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	441	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TATACTTTTAACGATTGTTTC	0.343													False	0	False	4:165962546	0	G	165962546	A	G	165962546	3	3	88	1	0	0	0	0	1	0	0	0	16618	43	2	4	1324	4	TRIM60	4	165962546	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1716047	165962546	25191730	5609	13321											
TMEM192	201931	broad.mit.edu	37	chr4	166021946	166021946	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggattataaccgtctgaacTttcaatgggtttgtgtaatt	9	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166021946T>G	ENST00000306480.6	-	3	418	c.273A>C	c.(271-273)aaA>aaC	p.K91N	TMEM192_ENST00000506087.1_Missense_Mutation_p.K87N	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192							Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CCGTCTGAACTTTCAATGGGT	0.388													False	0	True	4:166021946	0	G	166021946	T	G	166021946	3	3	88	1	0	0	0	0	1	0	0	0	16197	1606	56	4	558	4	TMEM192	4	166021946	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59400	166021946	25132330	5610	13322											
CPE	1363	broad.mit.edu	37	chr4	166388932	166388932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctggataggatagtgtaCgtgaatgagaaagaaggtgg	16	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166388932C>T	ENST00000402744.4	+	3	877	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	199					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGATAGTGTACGTGAATGAGA	0.418													False	0	False	4:166388932	0	T	166388932	C	T	166388932	2	4	88	1	0	0	0	0	0	0	0	1	3822	547	19	1		1	CPE	4	166388932	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	366986	166388932	24765344	5611	13323											
SPOCK3	50859	broad.mit.edu	37	chr4	167921568	167921568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcaatgcatactttatgGcgactacatttcatctttaa	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:167921568G>A	ENST00000357154.3	-	5	428	c.291C>T	c.(289-291)cgC>cgT	p.R97R	SPOCK3_ENST00000511531.1_Silent_p.R97R|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000511269.1_Silent_p.R94R|SPOCK3_ENST00000504953.1_Silent_p.R94R|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000506886.1_Silent_p.R97R|SPOCK3_ENST00000421836.2_Silent_p.R46R|SPOCK3_ENST00000535728.1_Silent_p.R5R|SPOCK3_ENST00000357545.4_Silent_p.R94R|SPOCK3_ENST00000510741.1_Silent_p.R94R|SPOCK3_ENST00000512648.1_Silent_p.R94R|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000502330.1_Silent_p.R97R	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	97					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATACTTTATGGCGACTACATT	0.358													False	0	False	4:167921568	0	A	167921568	G	A	167921568	2	1	88	1	0	0	0	0	0	0	0	1	15163	1190	42	2		2	SPOCK3	4	167921568	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1532636	167921568	23232708	5612	13324											
DDX60	55601	broad.mit.edu	37	chr4	169194446	169194446	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgacagtttaaggcaTcatgacgatactccctggtg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169194446T>G	ENST00000393743.3	-	18	2849	c.2558A>C	c.(2557-2559)gAt>gCt	p.D853A		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	853	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTTAAGGCATCATGACGATA	0.358													False	0	False	4:169194446	0	G	169194446	T	G	169194446	3	3	88	1	0	0	0	0	1	0	0	0	4403	1435	50	4	2664	4	DDX60	4	169194446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1272878	169194446	21959830	5613	13325											
DDX60	55601	broad.mit.edu	37	chr4	169229212	169229212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taataagatccacaagatagCgttcaaccagatagaagaaa	7	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169229212C>T	ENST00000393743.3	-	4	500	c.209G>A	c.(208-210)cGc>cAc	p.R70H		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	70							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CACAAGATAGCGTTCAACCAG	0.338													False	0	False	4:169229212	0	T	169229212	C	T	169229212	3	4	88	1	0	0	0	0	1	0	0	0	4403	768	27	1	5069	1	DDX60	4	169229212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34766	169229212	21925064	5614	13326											
DDX60L	91351	broad.mit.edu	37	chr4	169292909	169292909	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctaacaccgactgtgcgcagGatgacctgaagaaagacatt	10	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169292909G>T	ENST00000511577.1	-	36	5029	c.4782C>A	c.(4780-4782)atC>atA	p.I1594I	DDX60L_ENST00000260184.7_Silent_p.I1594I			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1594							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGTGCGCAGGATGACCTGAA	0.408													False	0	False	4:169292909	0	T	169292909	G	T	169292909	2	4	88	1	0	0	0	0	0	0	0	1	4404	1164	41	3		3	DDX60L	4	169292909	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63697	169292909	21861367	5615	13327											
DDX60L	91351	broad.mit.edu	37	chr4	169305771	169305771	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacggtacctttgcctTggcatcctctgggtcatctc	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169305771T>C	ENST00000511577.1	-	30	4355	c.4108A>G	c.(4108-4110)Aag>Gag	p.K1370E	DDX60L_ENST00000260184.7_Missense_Mutation_p.K1370E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1370							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACCTTTGCCTTGGCATCCTCT	0.537													False	0	False	4:169305771	0	C	169305771	T	C	169305771	3	2	88	1	0	0	0	0	1	0	0	0	4404	1821	63	4	1048	4	DDX60L	4	169305771	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12862	169305771	21848505	5616	13328											
DDX60L	91351	broad.mit.edu	37	chr4	169312748	169312748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaaaaacaacagatttGcatggcatgtggatccctaa	10	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169312748G>A	ENST00000511577.1	-	29	4105	c.3858C>T	c.(3856-3858)tgC>tgT	p.C1286C	DDX60L_ENST00000260184.7_Silent_p.C1286C|DDX60L_ENST00000505890.1_Silent_p.C1287C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1286	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAACAGATTTGCATGGCATGT	0.378													False	0	True	4:169312748	0	A	169312748	G	A	169312748	2	1	88	1	0	0	0	0	0	0	0	1	4404	1311	46	2		2	DDX60L	4	169312748	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6977	169312748	21841528	5617	13329											
DDX60L	91351	broad.mit.edu	37	chr4	169327130	169327130	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggccatttttaatccaatTtgtcaattctgcctttaagt	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169327130T>G	ENST00000511577.1	-	24	3431	c.3184A>C	c.(3184-3186)Aat>Cat	p.N1062H	DDX60L_ENST00000260184.7_Missense_Mutation_p.N1062H|DDX60L_ENST00000505890.1_Missense_Mutation_p.N1062H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1062							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTAATCCAATTTGTCAATTCT	0.303													False	0	True	4:169327130	0	G	169327130	T	G	169327130	3	3	88	1	0	0	0	0	1	0	0	0	4404	1841	64	4	1996	4	DDX60L	4	169327130	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14382	169327130	21827146	5618	13330											
DDX60L	91351	broad.mit.edu	37	chr4	169327215	169327215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttaaaaagaatgaattcCtctggacacaattccttggg	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169327215C>T	ENST00000511577.1	-	24	3346	c.3099G>A	c.(3097-3099)gaG>gaA	p.E1033E	DDX60L_ENST00000260184.7_Silent_p.E1033E|DDX60L_ENST00000505890.1_Silent_p.E1033E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1033							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAATGAATTCCTCTGGACACA	0.289													False	0	False	4:169327215	0	T	169327215	C	T	169327215	2	4	88	1	0	0	0	0	0	0	0	1	4404	680	24	2		2	DDX60L	4	169327215	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85	169327215	21827061	5619	13331											
DDX60L	91351	broad.mit.edu	37	chr4	169343747	169343747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctcttatcaagtaatgGcccatgtattgcagttgaaa	7	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169343747G>A	ENST00000511577.1	-	16	2419	c.2172C>T	c.(2170-2172)ggC>ggT	p.G724G	DDX60L_ENST00000260184.7_Silent_p.G724G|DDX60L_ENST00000505890.1_Silent_p.G724G			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	724							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCAAGTAATGGCCCATGTATT	0.358													False	0	True	4:169343747	0	A	169343747	G	A	169343747	2	1	88	1	0	0	0	0	0	0	0	1	4404	1190	42	2		2	DDX60L	4	169343747	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16532	169343747	21810529	5620	13332											
PALLD	23022	broad.mit.edu	37	chr4	169433122	169433122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaacgtaaagcccaaaaCgccacatcaaagaaagggtg	8	11	1	1	rs114877850	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169433122C>T	ENST00000261509.6	+	2	678	c.467C>T	c.(466-468)aCg>aTg	p.T156M	PALLD_ENST00000333488.4_Missense_Mutation_p.T33M|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.T156M	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	156					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AAGCCCAAAACGCCACATCAA	0.522									Pancreatic Cancer, Familial Clustering of				False	0	True	4:169433122	0	T	169433122	C	T	169433122	3	4	88	1	0	0	0	0	1	0	0	0	11475	536	19	1	469	1	PALLD	4	169433122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89375	169433122	21721154	5621	13333											
PALLD	23022	broad.mit.edu	37	chr4	169433221	169433221	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atttaaagccgcaaagccaaGaaacagaagcccaaatgggg	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169433221G>T	ENST00000261509.6	+	2	777	c.566G>T	c.(565-567)aGa>aTa	p.R189I	PALLD_ENST00000333488.4_Missense_Mutation_p.R66I|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.R189I	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	189					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCAAAGCCAAGAAACAGAAGC	0.527									Pancreatic Cancer, Familial Clustering of				False	0	True	4:169433221	0	T	169433221	G	T	169433221	3	4	88	1	0	0	0	0	1	0	0	0	11475	942	33	3	568	3	PALLD	4	169433221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99	169433221	21721055	5622	13334											
SH3RF1	57630	broad.mit.edu	37	chr4	170037775	170037775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcgttcctggttgtgcGctgcaactagtagatgggaa	16	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170037775G>A	ENST00000284637.9	-	10	2125	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	595						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTGGTTGTGCGCTGCAACTAG	0.532													False	0	False	4:170037775	0	A	170037775	G	A	170037775	3	1	88	1	0	0	0	0	1	0	0	0	14339	1087	38	1	894	1	SH3RF1	4	170037775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	604554	170037775	21116501	5623	13335											
SH3RF1	57630	broad.mit.edu	37	chr4	170043380	170043380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcaaggacagtggcaGccaggagagggggtggtgga	22	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170043380G>A	ENST00000284637.9	-	7	1558	c.1217C>T	c.(1216-1218)gCt>gTt	p.A406V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	406						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GACAGTGGCAGCCAGGAGAGG	0.527													False	0	False	4:170043380	0	A	170043380	G	A	170043380	3	1	88	1	0	0	0	0	1	0	0	0	14339	971	34	2	1473	2	SH3RF1	4	170043380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5605	170043380	21110896	5624	13336											
SH3RF1	57630	broad.mit.edu	37	chr4	170051308	170051308	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtggtacttatatgaacCtgccgagaaaagaaaagtta	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170051308C>T	ENST00000284637.9	-	6	1410		c.e6-1		SH3RF1_ENST00000508685.1_Splice_Site	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1							Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TTATATGAACCTGCCGAGAAA	0.408													False	0	False	4:170051308	0	T	170051308	C	T	170051308	5	4	88	1	0	0	0	0	0	0	1	0	14339	695	24	2	1626	2	SH3RF1	4	170051308	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7928	170051308	21102968	5625	13337											
C4orf27	54969	broad.mit.edu	37	chr4	170671837	170671837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagcaaggatatcataaGgaccaactaattgaagtcca	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170671837G>A	ENST00000393381.2	-	3	323	c.248C>T	c.(247-249)cCt>cTt	p.P83L		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	83						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GATATCATAAGGACCAACTAA	0.348													False	0	False	4:170671837	0	A	170671837	G	A	170671837	3	1	88	1	0	0	0	0	1	0	0	0	2275	1000	35	2	816	2	C4orf27	4	170671837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	620529	170671837	20482439	5626	13338											
MFAP3L	9848	broad.mit.edu	37	chr4	170912876	170912876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggcaggggagtcgctccGcttcagagagttggggattg	18	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170912876G>A	ENST00000361618.3	-	3	1190	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.R192W	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	295						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GAGTCGCTCCGCTTCAGAGAG	0.582													False	0	False	4:170912876	0	A	170912876	G	A	170912876	3	1	88	1	0	0	0	0	1	0	0	0	9583	1086	38	1	350	1	MFAP3L	4	170912876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241039	170912876	20241400	5627	13339											
MFAP3L	9848	broad.mit.edu	37	chr4	170926947	170926947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttagtcacactcttagCggtggctagagtggatacta	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170926947C>T	ENST00000361618.3	-	2	389	c.82G>A	c.(82-84)Gct>Act	p.A28T	MFAP3L_ENST00000506110.1_Missense_Mutation_p.A28T|MFAP3L_ENST00000393702.3_Missense_Mutation_p.A28T	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	28						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ACACTCTTAGCGGTGGCTAGA	0.458													False	0	False	4:170926947	0	T	170926947	C	T	170926947	3	4	88	1	0	0	0	0	1	0	0	0	9583	768	27	1	1155	1	MFAP3L	4	170926947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14071	170926947	20227329	5628	13340											
GALNTL6	442117	broad.mit.edu	37	chr4	173873248	173873248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagtacatttaccagcggCggccggagtacaggcatctc	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:173873248C>T	ENST00000506823.1	+	10	1867	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R387W	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	404						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTACCAGCGGCGGCCGGAGTA	0.512													False	0	False	4:173873248	0	T	173873248	C	T	173873248	3	4	88	1	0	0	0	0	1	0	0	0	6268	759	27	1	1244	1	GALNTL6	4	173873248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2946301	173873248	17281028	5629	13341											
GALNT7	51809	broad.mit.edu	37	chr4	174169569	174169569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctcactggaccgcagcGtcaatgacttacgccaagaa	9	12	2	3	rs79967711	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174169569G>A	ENST00000265000.4	+	2	648	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	GALNT7_ENST00000512285.1_Missense_Mutation_p.V189I	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	189					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GGACCGCAGCGTCAATGACTT	0.398													False	0	False	4:174169569	0	A	174169569	G	A	174169569	3	1	88	1	0	0	0	0	1	0	0	0	6261	1145	40	1	571	1	GALNT7	4	174169569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296321	174169569	16984707	5630	13342											
GALNT7	51809	broad.mit.edu	37	chr4	174235199	174235199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcaggcattaccatatgggGatatatcggagctgaaaaaa	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174235199G>A	ENST00000265000.4	+	9	1563	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	494					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ACCATATGGGGATATATCGGA	0.373													False	0	True	4:174235199	0	A	174235199	G	A	174235199	3	1	88	1	0	0	0	0	1	0	0	0	6261	1174	41	2	1514	2	GALNT7	4	174235199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65630	174235199	16919077	5631	13343											
HMGB2	3148	broad.mit.edu	37	chr4	174254339	174254339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttgccatatcttcaaaCttcgacttctcctttgcaga	4	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174254339C>T	ENST00000296503.5	-	3	1050	c.177G>A	c.(175-177)aaG>aaA	p.K59K	HMGB2_ENST00000438704.2_Silent_p.K59K|HMGB2_ENST00000446922.2_Silent_p.K59K			P26583	HMGB2_HUMAN	high mobility group box 2	59					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TATCTTCAAACTTCGACTTCT	0.398													False	0	True	4:174254339	0	T	174254339	C	T	174254339	2	4	88	1	0	0	0	0	0	0	0	1	7273	564	20	2		2	HMGB2	4	174254339	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19140	174254339	16899937	5632	13344											
HAND2	9464	broad.mit.edu	37	chr4	174450017	174450017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtagctggtggccaggcGcagggtcttgattttggaga	17	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174450017G>A	ENST00000359562.4	-	1	1363	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2_ENST00000505300.1_5'UTR	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	142	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GTGGCCAGGCGCAGGGTCTTG	0.612													False	0	False	4:174450017	0	A	174450017	G	A	174450017	3	1	88	1	0	0	0	0	1	0	0	0	6997	1087	38	1	237	1	HAND2	4	174450017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195678	174450017	16704259	5633	13345											
GLRA3	8001	broad.mit.edu	37	chr4	175564991	175564991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaattttatagataacccaGtagaaaatattaaaaatcaa	4	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175564991G>A	ENST00000274093.3	-	10	1843	c.1341C>T	c.(1339-1341)taC>taT	p.Y447Y	GLRA3_ENST00000340217.5_Silent_p.Y432Y	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	447					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AGATAACCCAGTAGAAAATAT	0.398													False	0	False	4:175564991	0	A	175564991	G	A	175564991	2	1	88	1	0	0	0	0	0	0	0	1	6501	1024	36	2		2	GLRA3	4	175564991	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1114974	175564991	15589285	5634	13346											
GLRA3	8001	broad.mit.edu	37	chr4	175636706	175636706	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatccattggacaggaAagtgttaatgttaatctgaa	10	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175636706A>C	ENST00000274093.3	-	5	1009	c.507T>G	c.(505-507)ctT>ctG	p.L169L	GLRA3_ENST00000340217.5_Silent_p.L169L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	169					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TTGGACAGGAAAGTGTTAATG	0.289													False	0	True	4:175636706	0	C	175636706	A	C	175636706	2	2	88	1	0	0	0	0	0	0	0	1	6501	1	1	4		4	GLRA3	4	175636706	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71715	175636706	15517570	5635	13347											
ADAM29	11086	broad.mit.edu	37	chr4	175898652	175898652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgcctgataaaaggctatgGaggtagtgttgacagtggcc	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175898652G>T	ENST00000359240.3	+	5	2646	c.1976G>T	c.(1975-1977)gGa>gTa	p.G659V	ADAM29_ENST00000445694.1_Missense_Mutation_p.G659V|ADAM29_ENST00000404450.4_Missense_Mutation_p.G659V|ADAM29_ENST00000514159.1_Missense_Mutation_p.G659V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	659					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAAGGCTATGGAGGTAGTGTT	0.398													False	0	False	4:175898652	0	T	175898652	G	T	175898652	3	4	88	1	0	0	0	0	1	0	0	0	247	1174	41	3	1978	3	ADAM29	4	175898652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	261946	175898652	15255624	5636	13348											
ADAM29	11086	broad.mit.edu	37	chr4	175899058	175899058	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctcagttgacgccttcccaGagtcaacctcctgtgacacc	7	17	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175899058G>T	ENST00000359240.3	+	5	3052	c.2382G>T	c.(2380-2382)caG>caT	p.Q794H	ADAM29_ENST00000445694.1_Missense_Mutation_p.Q794H|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.Q794H|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q794H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	794	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CGCCTTCCCAGAGTCAACCTC	0.572													False	0	False	4:175899058	0	T	175899058	G	T	175899058	3	4	88	1	0	0	0	0	1	0	0	0	247	933	33	3	2384	3	ADAM29	4	175899058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	406	175899058	15255218	5637	13349											
GPM6A	2823	broad.mit.edu	37	chr4	176573004	176573004	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaaactgacgaaggtccaaGcagagatttgctccctccac	8	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:176573004G>T	ENST00000280187.7	-	5	567	c.522C>A	c.(520-522)tgC>tgA	p.C174*	GPM6A_ENST00000506894.1_Nonsense_Mutation_p.C163*|GPM6A_ENST00000515090.1_Nonsense_Mutation_p.C167*|GPM6A_ENST00000393658.2_Nonsense_Mutation_p.C174*	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	174						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GAAGGTCCAAGCAGAGATTTG	0.448													False	0	False	4:176573004	0	T	176573004	G	T	176573004	4	4	88	1	0	0	0	0	0	1	0	0	6661	963	34	3	330	3	GPM6A	4	176573004	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	673946	176573004	14581272	5638	13350											
WDR17	116966	broad.mit.edu	37	chr4	177069319	177069319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggattatactcaggatgcttGcatcaatattcttaatggac	8	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177069319G>A	ENST00000393643.2	+	13	1982	c.1730G>A	c.(1729-1731)tGc>tAc	p.C577Y	WDR17_ENST00000507824.2_Missense_Mutation_p.C584Y|WDR17_ENST00000280190.4_Missense_Mutation_p.C601Y|WDR17_ENST00000508596.1_Missense_Mutation_p.C577Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	601										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGGATGCTTGCATCAATATT	0.363													False	0	False	4:177069319	0	A	177069319	G	A	177069319	3	1	88	1	0	0	0	0	1	0	0	0	17361	1319	46	2	1852	2	WDR17	4	177069319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	496315	177069319	14084957	5639	13351											
WDR17	116966	broad.mit.edu	37	chr4	177073091	177073091	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaggacaaattcagagataCtgtgaacttatggttgaact	9	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177073091C>A	ENST00000393643.2	+	17	2685	c.2433C>A	c.(2431-2433)taC>taA	p.Y811*	WDR17_ENST00000507824.2_Nonsense_Mutation_p.Y818*|WDR17_ENST00000280190.4_Nonsense_Mutation_p.Y835*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.Y811*	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	835										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTCAGAGATACTGTGAACTTA	0.348													False	0	False	4:177073091	0	A	177073091	C	A	177073091	4	1	88	1	0	0	0	0	0	1	0	0	17361	576	20	3	2571	3	WDR17	4	177073091	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3772	177073091	14081185	5640	13352											
WDR17	116966	broad.mit.edu	37	chr4	177073110	177073110	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtgaacttatggttgaaCttggagaggtaatgtgctat	12	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177073110C>A	ENST00000393643.2	+	17	2704	c.2452C>A	c.(2452-2454)Ctt>Att	p.L818I	WDR17_ENST00000507824.2_Missense_Mutation_p.L825I|WDR17_ENST00000280190.4_Missense_Mutation_p.L842I|WDR17_ENST00000508596.1_Missense_Mutation_p.L818I	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	842										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATGGTTGAACTTGGAGAGGT	0.328													False	0	False	4:177073110	0	A	177073110	C	A	177073110	3	1	88	1	0	0	0	0	1	0	0	0	17361	565	20	3	2590	3	WDR17	4	177073110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	177073110	14081166	5641	13353											
ASB5	140458	broad.mit.edu	37	chr4	177138127	177138127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcagcatgtaatggaGtatcccaatatttgcctttc	9	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177138127G>A	ENST00000296525.3	-	6	817	c.704C>T	c.(703-705)aCt>aTt	p.T235I	ASB5_ENST00000512254.1_Missense_Mutation_p.T182I	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	235					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATGTAATGGAGTATCCCAATA	0.388													False	0	False	4:177138127	0	A	177138127	G	A	177138127	3	1	88	1	0	0	0	0	1	0	0	0	1030	1029	36	2	293	2	ASB5	4	177138127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65017	177138127	14016149	5642	13354											
SPCS3	60559	broad.mit.edu	37	chr4	177249379	177249379	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcactttgaccctgtcTtggaacgtcgtaccaaatgc	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177249379T>G	ENST00000503362.1	+	5	554	c.441T>G	c.(439-441)tcT>tcG	p.S147S	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	147					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		TGACCCTGTCTTGGAACGTCG	0.363													False	0	False	4:177249379	0	G	177249379	T	G	177249379	2	3	88	1	0	0	0	0	0	0	0	1	15107	1596	56	4		4	SPCS3	4	177249379	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	111252	177249379	13904897	5643	13355											
NEIL3	55247	broad.mit.edu	37	chr4	178260982	178260982	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatcacctcatgaaaatgAtacgtgatttcagcattctc	5	11	4	3	rs147943632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178260982A>G	ENST00000264596.3	+	5	791	c.673A>G	c.(673-675)Ata>Gta	p.I225V		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	225					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CATGAAAATGATACGTGATTT	0.358								Base excision repair (BER), DNA glycosylases					False	0	False	4:178260982	0	G	178260982	A	G	178260982	3	3	88	1	0	0	0	0	1	0	0	0	10388	333	12	4	691	4	NEIL3	4	178260982	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1011603	178260982	12893294	5644	13356											
NEIL3	55247	broad.mit.edu	37	chr4	178262667	178262667	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctctctctaaacactataAggtttacaagcgtcctaatt	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178262667A>C	ENST00000264596.3	+	6	858	c.740A>C	c.(739-741)aAg>aCg	p.K247T		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	247					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AAACACTATAAGGTTTACAAG	0.408								Base excision repair (BER), DNA glycosylases					False	0	False	4:178262667	0	C	178262667	A	C	178262667	3	2	88	1	0	0	0	0	1	0	0	0	10388	72	3	4	762	4	NEIL3	4	178262667	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1685	178262667	12891609	5645	13357											
AGA	175	broad.mit.edu	37	chr4	178358577	178358577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accaatagtgtcatgaccacGatcatcttctgtttctttat	5	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178358577G>A	ENST00000264595.2	-	5	731	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	202					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TCATGACCACGATCATCTTCT	0.373													False	0	False	4:178358577	0	A	178358577	G	A	178358577	3	1	88	1	0	0	0	0	1	0	0	0	365	1058	37	1	456	1	AGA	4	178358577	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95910	178358577	12795699	5646	13358											
AGA	175	broad.mit.edu	37	chr4	178360778	178360778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgttccagtactttccGtgccacaccaatagcatttt	6	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178360778G>A	ENST00000264595.2	-	3	473	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	116					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AGTACTTTCCGTGCCACACCA	0.363													False	0	False	4:178360778	0	A	178360778	G	A	178360778	3	1	88	1	0	0	0	0	1	0	0	0	365	1144	40	1	722	1	AGA	4	178360778	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2201	178360778	12793498	5647	13359											
WWC2	80014	broad.mit.edu	37	chr4	184186218	184186218	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggctgctgtgtctgatgagtCtgtggctggagacagtgggg	19	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184186218C>T	ENST00000403733.3	+	12	2196	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F	WWC2_ENST00000448232.2_Missense_Mutation_p.S666F|WWC2_ENST00000378925.3_Missense_Mutation_p.S568F|WWC2_ENST00000504005.1_Missense_Mutation_p.S348F|WWC2_ENST00000513834.1_Missense_Mutation_p.S617F	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	666										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCTGATGAGTCTGTGGCTGGA	0.502													False	0	False	4:184186218	0	T	184186218	C	T	184186218	3	4	88	1	0	0	0	0	1	0	0	0	17496	913	32	2	2043	2	WWC2	4	184186218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5825440	184186218	6968058	5648	13360											
WWC2	80014	broad.mit.edu	37	chr4	184192281	184192281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccattttccagtgaggttTtcactctatggtataacttg	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184192281T>C	ENST00000403733.3	+	16	2648	c.2449T>C	c.(2449-2451)Ttc>Ctc	p.F817L	WWC2_ENST00000448232.2_Missense_Mutation_p.F817L|WWC2_ENST00000504005.1_Missense_Mutation_p.F499L|WWC2_ENST00000513834.1_Missense_Mutation_p.F768L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	817										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CAGTGAGGTTTTCACTCTATG	0.363													False	0	True	4:184192281	0	C	184192281	T	C	184192281	3	2	88	1	0	0	0	0	1	0	0	0	17496	1841	64	4	2511	4	WWC2	4	184192281	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6063	184192281	6961995	5649	13361											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367459	184367459	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctctacaagtgatggagatCgatctgtttccagccaaagc	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184367459C>T	ENST00000504169.1	+	3	829	c.622C>T	c.(622-624)Cga>Tga	p.R208*	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	208	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGATGGAGATCGATCTGTTTC	0.507													False	0	True	4:184367459	0	T	184367459	C	T	184367459	4	4	88	1	0	0	0	0	0	1	0	0	3185	876	31	1	632	1	CDKN2AIP	4	184367459	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175178	184367459	6786817	5650	13362											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184368400	184368400	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggaaaaagcaaagaAaatgcaaaagcagttgcatc	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184368400A>T	ENST00000504169.1	+	3	1770	c.1563A>T	c.(1561-1563)gaA>gaT	p.E521D	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	521	DRBM.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAAGCAAAGAAAATGCAAAAG	0.378													False	0	True	4:184368400	0	T	184368400	A	T	184368400	3	4	88	1	0	0	0	0	1	0	0	0	3185	11	1	5	1573	5	CDKN2AIP	4	184368400	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	941	184368400	6785876	5651	13363											
ING2	3622	broad.mit.edu	37	chr4	184431723	184431723	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcttcaagaagaccccgcaGgcagcggaccagtgaaagcc	11	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184431723G>T	ENST00000302327.3	+	2	663	c.461G>T	c.(460-462)aGg>aTg	p.R154M	ING2_ENST00000434682.2_Missense_Mutation_p.R114M	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	154					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGACCCCGCAGGCAGCGGACC	0.463													False	0	True	4:184431723	0	T	184431723	G	T	184431723	3	4	88	1	0	0	0	0	1	0	0	0	7786	1000	35	3	467	3	ING2	4	184431723	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63323	184431723	6722553	5652	13364											
STOX2	56977	broad.mit.edu	37	chr4	184922582	184922582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgaactcggcaagaaagCctgtcacccaagaagcactg	9	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184922582C>T	ENST00000308497.4	+	2	1706	c.271C>T	c.(271-273)Cct>Tct	p.P91S	STOX2_ENST00000438269.1_Missense_Mutation_p.P91S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	91					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GGCAAGAAAGCCTGTCACCCA	0.547													False	0	False	4:184922582	0	T	184922582	C	T	184922582	3	4	88	1	0	0	0	0	1	0	0	0	15402	739	26	2	277	2	STOX2	4	184922582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	490859	184922582	6231694	5653	13365											
STOX2	56977	broad.mit.edu	37	chr4	184930594	184930594	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcgactcttgccactgCtgcagagaagacgtgcacag	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184930594C>T	ENST00000308497.4	+	3	2038	c.603C>T	c.(601-603)tgC>tgT	p.C201C	STOX2_ENST00000438269.1_Silent_p.C201C	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	201					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTTGCCACTGCTGCAGAGAAG	0.602													False	0	False	4:184930594	0	T	184930594	C	T	184930594	2	4	88	1	0	0	0	0	0	0	0	1	15402	805	28	2		2	STOX2	4	184930594	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8012	184930594	6223682	5654	13366											
STOX2	56977	broad.mit.edu	37	chr4	184931469	184931469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccaaggagagatccaggtCgatggataactccaaaggcc	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184931469C>T	ENST00000308497.4	+	3	2913	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	STOX2_ENST00000438269.1_Missense_Mutation_p.S493L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	493					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AGATCCAGGTCGATGGATAAC	0.572													False	0	False	4:184931469	0	T	184931469	C	T	184931469	3	4	88	1	0	0	0	0	1	0	0	0	15402	893	31	1	1488	1	STOX2	4	184931469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	875	184931469	6222807	5655	13367											
STOX2	56977	broad.mit.edu	37	chr4	184931489	184931489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatggataactccaaaggcCctctgggtgcttcttctcta	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184931489C>T	ENST00000308497.4	+	3	2933	c.1498C>T	c.(1498-1500)Cct>Tct	p.P500S	STOX2_ENST00000438269.1_Missense_Mutation_p.P500S	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	500					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTCCAAAGGCCCTCTGGGTGC	0.552													False	0	True	4:184931489	0	T	184931489	C	T	184931489	3	4	88	1	0	0	0	0	1	0	0	0	15402	623	22	2	1508	2	STOX2	4	184931489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	184931489	6222787	5656	13368											
ENPP6	133121	broad.mit.edu	37	chr4	185074810	185074810	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attaggctgtctttgttgacGccaatgtcaaaggacttgtt	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185074810G>T	ENST00000296741.2	-	2	459	c.318C>A	c.(316-318)ggC>ggA	p.G106G		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	106					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CTTTGTTGACGCCAATGTCAA	0.502													False	0	False	4:185074810	0	T	185074810	G	T	185074810	2	4	88	1	0	0	0	0	0	0	0	1	5166	1074	38	3		3	ENPP6	4	185074810	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143321	185074810	6079466	5657	13369											
ACSL1	2180	broad.mit.edu	37	chr4	185678324	185678324	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatctatctgcgacctgaaAtagttccgcagctctggcct	8	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185678324A>C	ENST00000515030.1	-	21	2377	c.2052T>G	c.(2050-2052)taT>taG	p.Y684*	ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Y684*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Y513*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Y650*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	684					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCGACCTGAAATAGTTCCGCA	0.458													False	0	True	4:185678324	0	C	185678324	A	C	185678324	4	2	88	1	0	0	0	0	0	1	0	0	177	108	4	4	48	4	ACSL1	4	185678324	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	603514	185678324	5475952	5658	13370											
SLC25A4	291	broad.mit.edu	37	chr4	186067969	186067969	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatttgtttccacagcCgatattatgtacacggggac	9	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186067969C>T	ENST00000281456.6	+	4	873	c.741C>T	c.(739-741)gcC>gcT	p.A247A		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4						energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	TTTCCACAGCCGATATTATGT	0.473													False	0	False	4:186067969	0	T	186067969	C	T	186067969	5	4	88	1	0	0	0	0	0	0	1	0	14584	666	23	1	755	1	SLC25A4	4	186067969	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	389645	186067969	5086307	5659	13371											
KIAA1430	57587	broad.mit.edu	37	chr4	186084022	186084022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccactggaggggtcaaccGctgatcgctcactcctacaa	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186084022G>A	ENST00000458385.2	-	5	1648	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	510										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGGTCAACCGCTGATCGCTC	0.438													False	0	False	4:186084022	0	A	186084022	G	A	186084022	3	1	88	1	0	0	0	0	1	0	0	0	8282	1087	38	1	73	1	KIAA1430	4	186084022	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16053	186084022	5070254	5660	13372											
KIAA1430	57587	broad.mit.edu	37	chr4	186085198	186085198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttacttaatgggctatattGgccaagagtggatctggccc	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186085198G>T	ENST00000458385.2	-	4	1575	c.1456C>A	c.(1456-1458)Caa>Aaa	p.Q486K		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	486										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGCTATATTGGCCAAGAGTG	0.343													False	0	False	4:186085198	0	T	186085198	G	T	186085198	3	4	88	1	0	0	0	0	1	0	0	0	8282	1357	47	3	150	3	KIAA1430	4	186085198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1176	186085198	5069078	5661	13373											
KIAA1430	57587	broad.mit.edu	37	chr4	186111392	186111392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acactgaagacgactttgagGagacatcaggctcatgtttt	10	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186111392G>A	ENST00000458385.2	-	2	1078	c.959C>T	c.(958-960)tCc>tTc	p.S320F	KIAA1430_ENST00000296775.6_Missense_Mutation_p.S320F|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S320F	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	320										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CGACTTTGAGGAGACATCAGG	0.353													False	0	False	4:186111392	0	A	186111392	G	A	186111392	3	1	88	1	0	0	0	0	1	0	0	0	8282	1174	41	2	655	2	KIAA1430	4	186111392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26194	186111392	5042884	5662	13374											
KIAA1430	57587	broad.mit.edu	37	chr4	186111567	186111567	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agactgaagagggctaatgtCtggagttgataagggactta	14	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186111567C>A	ENST00000458385.2	-	2	903	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	KIAA1430_ENST00000296775.6_Missense_Mutation_p.D262Y|KIAA1430_ENST00000514798.1_Missense_Mutation_p.D262Y	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	262										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGCTAATGTCTGGAGTTGAT	0.398													False	0	False	4:186111567	0	A	186111567	C	A	186111567	3	1	88	1	0	0	0	0	1	0	0	0	8282	913	32	3	830	3	KIAA1430	4	186111567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175	186111567	5042709	5663	13375											
SNX25	83891	broad.mit.edu	37	chr4	186278860	186278860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaacattaattgccctcGttcaggtcacttttggaaga	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186278860G>A	ENST00000504273.1	+	16	2422	c.2128G>A	c.(2128-2130)Gtt>Att	p.V710I	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.V710I			Q9H3E2	SNX25_HUMAN	sorting nexin 25	710					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AATTGCCCTCGTTCAGGTCAC	0.373													False	0	False	4:186278860	0	A	186278860	G	A	186278860	3	1	88	1	0	0	0	0	1	0	0	0	14976	1145	40	1	2186	1	SNX25	4	186278860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167293	186278860	4875416	5664	13376											
UFSP2	55325	broad.mit.edu	37	chr4	186329507	186329507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcagatagtctgcagagatCgataagcacagccccagcca	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186329507C>T	ENST00000264689.6	-	8	1030	c.914G>A	c.(913-915)cGa>cAa	p.R305Q		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	305						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CTGCAGAGATCGATAAGCACA	0.428													False	0	False	4:186329507	0	T	186329507	C	T	186329507	3	4	88	1	0	0	0	0	1	0	0	0	17022	884	31	1	515	1	UFSP2	4	186329507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50647	186329507	4824769	5665	13377											
UFSP2	55325	broad.mit.edu	37	chr4	186329545	186329545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccattgtcatctatgcgatcCtgcatataatgatgatagcc	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186329545C>A	ENST00000264689.6	-	8	992	c.876G>T	c.(874-876)caG>caT	p.Q292H		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	292						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CTATGCGATCCTGCATATAAT	0.398													False	0	False	4:186329545	0	A	186329545	C	A	186329545	3	1	88	1	0	0	0	0	1	0	0	0	17022	680	24	3	553	3	UFSP2	4	186329545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	186329545	4824731	5666	13378											
UFSP2	55325	broad.mit.edu	37	chr4	186339802	186339802	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttctccaggaatggtgtTtatgtcactgctaggccata	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186339802T>G	ENST00000264689.6	-	3	321	c.205A>C	c.(205-207)Aac>Cac	p.N69H	UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	69						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGAATGGTGTTTATGTCACTG	0.398													False	0	True	4:186339802	0	G	186339802	T	G	186339802	3	3	88	1	0	0	0	0	1	0	0	0	17022	1841	64	4	1244	4	UFSP2	4	186339802	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10257	186339802	4814474	5667	13379											
CCDC110	256309	broad.mit.edu	37	chr4	186379534	186379534	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcagtaagtctactgAtgctgttttcaaattttata	6	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186379534A>T	ENST00000307588.3	-	6	2282	c.2207T>A	c.(2206-2208)aTc>aAc	p.I736N	CCDC110_ENST00000393540.3_Missense_Mutation_p.I699N|CCDC110_ENST00000510617.1_Missense_Mutation_p.I736N	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	736						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AAGTCTACTGATGCTGTTTTC	0.299													False	0	False	4:186379534	0	T	186379534	A	T	186379534	3	4	88	1	0	0	0	0	1	0	0	0	2767	333	12	5	302	5	CCDC110	4	186379534	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39732	186379534	4774742	5668	13380											
PDLIM3	27295	broad.mit.edu	37	chr4	186423589	186423589	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttgcagtcggcacacacGaagcactcagggtgccggta	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186423589G>A	ENST00000284770.5	-	8	1027	c.954C>T	c.(952-954)ttC>ttT	p.F318F	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.F270F	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	318	LIM zinc-binding.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CGGCACACACGAAGCACTCAG	0.532													False	0	True	4:186423589	0	A	186423589	G	A	186423589	2	1	88	1	0	0	0	0	0	0	0	1	11749	1049	37	1		1	PDLIM3	4	186423589	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44055	186423589	4730687	5669	13381											
PDLIM3	27295	broad.mit.edu	37	chr4	186423604	186423604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacgaagcactcagggtgCcggtacttatcccgcgcctt	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186423604C>T	ENST00000284770.5	-	8	1012	c.939G>A	c.(937-939)cgG>cgA	p.R313R	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.R265R	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	313	LIM zinc-binding.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ACTCAGGGTGCCGGTACTTAT	0.507													False	0	False	4:186423604	0	T	186423604	C	T	186423604	2	4	88	1	0	0	0	0	0	0	0	1	11749	726	26	2		2	PDLIM3	4	186423604	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	186423604	4730672	5670	13382											
PDLIM3	27295	broad.mit.edu	37	chr4	186425686	186425686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgccccgcctgaaccgCcatggactttcgtcaccgga	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186425686C>T	ENST00000284770.5	-	7	921	c.848G>A	c.(847-849)gGc>gAc	p.G283D	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.G235D	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	283						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GCCTGAACCGCCATGGACTTT	0.532													False	0	False	4:186425686	0	T	186425686	C	T	186425686	3	4	88	1	0	0	0	0	1	0	0	0	11749	739	26	2	254	2	PDLIM3	4	186425686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2082	186425686	4728590	5671	13383											
PDLIM3	27295	broad.mit.edu	37	chr4	186456534	186456534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggttgaagtctatgccccCtgagagcctgaagccccagg	12	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186456534C>A	ENST00000284767.5	-	1	122	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W	PDLIM3_ENST00000284771.6_Missense_Mutation_p.G19W|PDLIM3_ENST00000284770.5_Missense_Mutation_p.G19W			Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	19	PDZ.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TCTATGCCCCCTGAGAGCCTG	0.682													False	0	True	4:186456534	0	A	186456534	C	A	186456534	3	1	88	1	0	0	0	0	1	0	0	0	11749	681	24	3	1263	3	PDLIM3	4	186456534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30848	186456534	4697742	5672	13384											
SORBS2	8470	broad.mit.edu	37	chr4	186545525	186545525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgaaactaatggctcttGgtgagtcccgagggacatcc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186545525G>A	ENST00000431808.1	-	14	1609	c.1046C>T	c.(1045-1047)cCa>cTa	p.P349L	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P449L|SORBS2_ENST00000418609.1_Missense_Mutation_p.P253L|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P349L|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	349						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AATGGCTCTTGGTGAGTCCCG	0.522													False	0	False	4:186545525	0	A	186545525	G	A	186545525	3	1	88	1	0	0	0	0	1	0	0	0	15008	1348	47	2	2292	2	SORBS2	4	186545525	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88991	186545525	4608751	5673	13385											
TLR3	7098	broad.mit.edu	37	chr4	186997978	186997978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcagaagattaccagccGccaacttcacaaggtatagc	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186997978G>A	ENST00000296795.3	+	2	309	c.205G>A	c.(205-207)Gcc>Acc	p.A69T		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATTACCAGCCGCCAACTTCAC	0.443													False	0	False	4:186997978	0	A	186997978	G	A	186997978	3	1	88	1	0	0	0	0	1	0	0	0	16034	1087	38	1	207	1	TLR3	4	186997978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	452453	186997978	4156298	5674	13386											
TLR3	7098	broad.mit.edu	37	chr4	187000170	187000170	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaaaattagagttgtcatcGaatcaaattaaagaggtaag	8	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187000170G>A	ENST00000296795.3	+	3	722	c.618G>A	c.(616-618)tcG>tcA	p.S206S		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGTTGTCATCGAATCAAATTA	0.323													False	0	False	4:187000170	0	A	187000170	G	A	187000170	2	1	88	1	0	0	0	0	0	0	0	1	16034	1045	37	1		1	TLR3	4	187000170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2192	187000170	4154106	5675	13387											
TLR3	7098	broad.mit.edu	37	chr4	187004176	187004176	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccttaatgaaattgggcaaGaactcacaggccaggaatgg	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187004176G>T	ENST00000296795.3	+	4	1440	c.1336G>T	c.(1336-1338)Gaa>Taa	p.E446*	TLR3_ENST00000504367.1_Nonsense_Mutation_p.E169*	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	p.E446*(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AATTGGGCAAGAACTCACAGG	0.423													False	0	False	4:187004176	0	T	187004176	G	T	187004176	4	4	88	1	0	0	0	0	0	1	0	0	16034	943	33	3	1346	3	TLR3	4	187004176	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4006	187004176	4150100	5676	13388											
FAM149A	25854	broad.mit.edu	37	chr4	187074871	187074871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcagcactcctgcctcCgcagtccacagacccccgct	9	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187074871C>T	ENST00000356371.5	+	5	1032	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	FAM149A_ENST00000503432.1_Silent_p.S53S|FAM149A_ENST00000227065.4_Silent_p.S53S|FAM149A_ENST00000514153.1_Silent_p.S53S|FAM149A_ENST00000502970.1_Silent_p.S53S|FAM149A_ENST00000389354.5_Silent_p.S53S|FAM149A_ENST00000514829.1_3'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	344										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CTCCTGCCTCCGCAGTCCACA	0.507													False	0	False	4:187074871	0	T	187074871	C	T	187074871	2	4	88	1	0	0	0	0	0	0	0	1	5491	639	23	1		1	FAM149A	4	187074871	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70695	187074871	4079405	5677	13389											
FAM149A	25854	broad.mit.edu	37	chr4	187077278	187077278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagaagtgtttgatcacGtctggacaaatatggtagaa	11	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187077278G>A	ENST00000356371.5	+	7	1381	c.1381G>A	c.(1381-1383)Gtc>Atc	p.V461I	FAM149A_ENST00000503432.1_Missense_Mutation_p.V170I|FAM149A_ENST00000227065.4_Missense_Mutation_p.V170I|FAM149A_ENST00000514153.1_Missense_Mutation_p.V170I|FAM149A_ENST00000502970.1_Missense_Mutation_p.V170I|FAM149A_ENST00000389354.5_Missense_Mutation_p.V170I|FAM149A_ENST00000514829.1_3'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	461								p.V170I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GTTTGATCACGTCTGGACAAA	0.463													False	0	False	4:187077278	0	A	187077278	G	A	187077278	3	1	88	1	0	0	0	0	1	0	0	0	5491	1145	40	1	522	1	FAM149A	4	187077278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2407	187077278	4076998	5678	13390											
FAM149A	25854	broad.mit.edu	37	chr4	187078767	187078767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggctggaaacagatttcCgcacgtcctcgttccacacg	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187078767C>T	ENST00000356371.5	+	8	1496	c.1496C>T	c.(1495-1497)cCg>cTg	p.P499L	FAM149A_ENST00000503432.1_Missense_Mutation_p.P208L|FAM149A_ENST00000227065.4_Missense_Mutation_p.P208L|FAM149A_ENST00000514153.1_Missense_Mutation_p.P208L|FAM149A_ENST00000502970.1_Missense_Mutation_p.P208L|FAM149A_ENST00000389354.5_Missense_Mutation_p.P208L|FAM149A_ENST00000514829.1_3'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	499										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AACAGATTTCCGCACGTCCTC	0.512													False	0	False	4:187078767	0	T	187078767	C	T	187078767	3	4	88	1	0	0	0	0	1	0	0	0	5491	652	23	1	641	1	FAM149A	4	187078767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1489	187078767	4075509	5679	13391											
FAM149A	25854	broad.mit.edu	37	chr4	187084635	187084635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctctctcctccgcaccGcacagactgggacgggcctc	12	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187084635G>A	ENST00000356371.5	+	10	1764	c.1764G>A	c.(1762-1764)ccG>ccA	p.P588P	FAM149A_ENST00000503432.1_Silent_p.P297P|FAM149A_ENST00000227065.4_Silent_p.P297P|FAM149A_ENST00000514153.1_Silent_p.P297P|FAM149A_ENST00000502970.1_Silent_p.P297P|FAM149A_ENST00000389354.5_Silent_p.P297P			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	588										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CCTCCGCACCGCACAGACTGG	0.557													False	0	True	4:187084635	0	A	187084635	G	A	187084635	2	1	88	1	0	0	0	0	0	0	0	1	5491	1074	38	1		1	FAM149A	4	187084635	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5868	187084635	4069641	5680	13392											
FAM149A	25854	broad.mit.edu	37	chr4	187088339	187088339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttatttttcttccagcagtCggatacgcctcgaaaaagtt	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187088339C>T	ENST00000356371.5	+	13	2171	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	FAM149A_ENST00000503432.1_Missense_Mutation_p.S433L|FAM149A_ENST00000227065.4_Missense_Mutation_p.S433L|FAM149A_ENST00000514153.1_Missense_Mutation_p.S433L|FAM149A_ENST00000502970.1_Missense_Mutation_p.S433L|FAM149A_ENST00000389354.5_Missense_Mutation_p.S433L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	724										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TTCCAGCAGTCGGATACGCCT	0.378													False	0	False	4:187088339	0	T	187088339	C	T	187088339	3	4	88	1	0	0	0	0	1	0	0	0	5491	893	31	1	1336	1	FAM149A	4	187088339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3704	187088339	4065937	5681	13393											
CYP4V2	285440	broad.mit.edu	37	chr4	187130376	187130376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgagaatgcacaagggcGccatccatatgcctacgtgc	10	15	0	1	rs149681054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187130376G>A	ENST00000378802.4	+	10	1659	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	452					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GCACAAGGGCGCCATCCATAT	0.542													False	0	True	4:187130376	0	A	187130376	G	A	187130376	3	1	88	1	0	0	0	0	1	0	0	0	4217	1087	38	1	1393	1	CYP4V2	4	187130376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42037	187130376	4023900	5682	13394											
KLKB1	3818	broad.mit.edu	37	chr4	187178451	187178451	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagaatgccagaaaagatatCaagattataaaataacccaa	5	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187178451C>T	ENST00000264690.6	+	14	1844	c.1657C>T	c.(1657-1659)Caa>Taa	p.Q553*	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	553	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GAAAAGATATCAAGATTATAA	0.343													False	0	False	4:187178451	0	T	187178451	C	T	187178451	4	4	88	1	0	0	0	0	0	1	0	0	8462	827	29	2	1707	2	KLKB1	4	187178451	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48075	187178451	3975825	5683	13395											
MTNR1A	4543	broad.mit.edu	37	chr4	187454932	187454932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccacgtcgttagagctgtCcacaaagaacaccctggctg	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187454932C>T	ENST00000307161.5	-	2	1165	c.964G>A	c.(964-966)Gac>Aac	p.D322N	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	322					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TTAGAGCTGTCCACAAAGAAC	0.448													False	0	False	4:187454932	0	T	187454932	C	T	187454932	3	4	88	1	0	0	0	0	1	0	0	0	10018	855	30	2	92	2	MTNR1A	4	187454932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	276481	187454932	3699344	5684	13396											
FAT1	2195	broad.mit.edu	37	chr4	187534419	187534419	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcttggcagaatcttcctcCtccatctgtggccctgacga	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187534419C>A	ENST00000441802.2	-	13	9516	c.9307G>T	c.(9307-9309)Gga>Tga	p.G3103*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3103	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATCTTCCTCCTCCATCTGTG	0.483										HNSCC(5;0.00058)			False	0	True	4:187534419	0	A	187534419	C	A	187534419	4	1	88	1	0	0	0	0	0	1	0	0	5729	690	24	3	4519	3	FAT1	4	187534419	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79487	187534419	3619857	5685	13397											
FAT1	2195	broad.mit.edu	37	chr4	187535439	187535439	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtctgcgtctgtagcagaGatctgcatgatcaattttcc	9	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187535439G>T	ENST00000441802.2	-	12	9344	c.9135C>A	c.(9133-9135)atC>atA	p.I3045I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3045	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGTAGCAGAGATCTGCATGA	0.378										HNSCC(5;0.00058)			False	0	False	4:187535439	0	T	187535439	G	T	187535439	2	4	88	1	0	0	0	0	0	0	0	1	5729	932	33	3		3	FAT1	4	187535439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1020	187535439	3618837	5686	13398											
FAT1	2195	broad.mit.edu	37	chr4	187538356	187538356	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcctaaaggatcccctcCtattaaatcaatggaggaag	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187538356C>A	ENST00000441802.2	-	11	9088		c.e11-1			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGATCCCCTCCTATTAAATCA	0.313										HNSCC(5;0.00058)			False	0	False	4:187538356	0	A	187538356	C	A	187538356	5	1	88	1	0	0	0	0	0	0	1	0	5729	695	24	3	4956	3	FAT1	4	187538356	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2917	187538356	3615920	5687	13399											
FAT1	2195	broad.mit.edu	37	chr4	187539140	187539140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttaaagttgtaatccagCctgtttccatgttaatggca	7	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187539140C>T	ENST00000441802.2	-	10	8809	c.8600G>A	c.(8599-8601)gGc>gAc	p.G2867D		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2867	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTAATCCAGCCTGTTTCCAT	0.418										HNSCC(5;0.00058)			False	0	False	4:187539140	0	T	187539140	C	T	187539140	3	4	88	1	0	0	0	0	1	0	0	0	5729	739	26	2	5238	2	FAT1	4	187539140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	784	187539140	3615136	5688	13400											
FAT1	2195	broad.mit.edu	37	chr4	187539828	187539828	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcttttacactttcagagtCtgcttcaatggcataggtga	8	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187539828C>A	ENST00000441802.2	-	10	8121	c.7912G>T	c.(7912-7914)Gac>Tac	p.D2638Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2638	Cadherin 24.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTTCAGAGTCTGCTTCAATG	0.438										HNSCC(5;0.00058)			False	0	False	4:187539828	0	A	187539828	C	A	187539828	3	1	88	1	0	0	0	0	1	0	0	0	5729	913	32	3	5926	3	FAT1	4	187539828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	688	187539828	3614448	5689	13401											
FAT1	2195	broad.mit.edu	37	chr4	187540331	187540331	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggtggaacttctaaaaactCcatcagacactgacaggtta	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540331C>A	ENST00000441802.2	-	10	7618	c.7409G>T	c.(7408-7410)gGa>gTa	p.G2470V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2470	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTAAAAACTCCATCAGACAC	0.448										HNSCC(5;0.00058)			False	0	False	4:187540331	0	A	187540331	C	A	187540331	3	1	88	1	0	0	0	0	1	0	0	0	5729	855	30	3	6429	3	FAT1	4	187540331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	503	187540331	3613945	5690	13402											
FAT1	2195	broad.mit.edu	37	chr4	187540407	187540407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgagagggtgataatccCtgttgcactgtcaatgacaa	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540407C>A	ENST00000441802.2	-	10	7542	c.7333G>T	c.(7333-7335)Ggg>Tgg	p.G2445W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2445	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGATAATCCCTGTTGCACTG	0.438										HNSCC(5;0.00058)			False	0	True	4:187540407	0	A	187540407	C	A	187540407	3	1	88	1	0	0	0	0	1	0	0	0	5729	681	24	3	6505	3	FAT1	4	187540407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76	187540407	3613869	5691	13403											
FAT1	2195	broad.mit.edu	37	chr4	187540695	187540695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgccgggactgctcgtaatCcagggttctgagtagtgaga	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540695C>A	ENST00000441802.2	-	10	7254	c.7045G>T	c.(7045-7047)Gat>Tat	p.D2349Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2349	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCTCGTAATCCAGGGTTCTG	0.498										HNSCC(5;0.00058)			False	0	False	4:187540695	0	A	187540695	C	A	187540695	3	1	88	1	0	0	0	0	1	0	0	0	5729	855	30	3	6793	3	FAT1	4	187540695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	288	187540695	3613581	5692	13404											
FAT1	2195	broad.mit.edu	37	chr4	187628088	187628088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctccgtggtccagaaggCtgtatctcacctgaccagac	9	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187628088C>T	ENST00000441802.2	-	2	3103	c.2894G>A	c.(2893-2895)aGc>aAc	p.S965N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	965	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCCAGAAGGCTGTATCTCAC	0.473										HNSCC(5;0.00058)			False	0	False	4:187628088	0	T	187628088	C	T	187628088	3	4	88	1	0	0	0	0	1	0	0	0	5729	797	28	2	10976	2	FAT1	4	187628088	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87393	187628088	3526188	5693	13405											
FAT1	2195	broad.mit.edu	37	chr4	187630410	187630410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatagcaaacatatctgttCgatctttaaaactgtagtaa	6	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187630410C>T	ENST00000441802.2	-	2	781	c.572G>A	c.(571-573)cGa>cAa	p.R191Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	191	Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATATCTGTTCGATCTTTAAA	0.433										HNSCC(5;0.00058)			False	0	False	4:187630410	0	T	187630410	C	T	187630410	3	4	88	1	0	0	0	0	1	0	0	0	5729	884	31	1	13298	1	FAT1	4	187630410	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2322	187630410	3523866	5694	13406											
ZFP42	132625	broad.mit.edu	37	chr4	188924725	188924725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgaagggtgcggaaagcGcttctctctggactttaatt	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:188924725G>A	ENST00000326866.4	+	4	1172	c.764G>A	c.(763-765)cGc>cAc	p.R255H	ZFP42_ENST00000509524.1_Missense_Mutation_p.R255H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	255					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGCGGAAAGCGCTTCTCTCTG	0.498													False	0	False	4:188924725	0	A	188924725	G	A	188924725	3	1	88	1	0	0	0	0	1	0	0	0	17733	1087	38	1	766	1	ZFP42	4	188924725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1294315	188924725	2229551	5695	13407											
TRIML2	205860	broad.mit.edu	37	chr4	189012679	189012679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgtaaatgagggacatctCggtcacattgtagaatgata	10	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189012679C>T	ENST00000512729.1	-	7	1386	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	TRIML2_ENST00000326754.3_Missense_Mutation_p.E363K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	338	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGGGACATCTCGGTCACATTG	0.493													False	0	False	4:189012679	0	T	189012679	C	T	189012679	3	4	88	1	0	0	0	0	1	0	0	0	16634	893	31	1	155	1	TRIML2	4	189012679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87954	189012679	2141597	5696	13408											
TRIML2	205860	broad.mit.edu	37	chr4	189020151	189020151	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacttctcatttctcaaataCtggaatgaattttattttct	3	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189020151C>A	ENST00000536972.1	-	5	906	c.659G>T	c.(658-660)aGt>aTt	p.S220I	TRIML2_ENST00000512729.1_Intron|TRIML2_ENST00000326754.3_Intron			Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	0	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTCTCAAATACTGGAATGAAT	0.408													False	0	False	4:189020151	0	A	189020151	C	A	189020151	3	1	88	1	0	0	0	0	1	0	0	0	16634	580	20	3		3	TRIML2	4	189020151	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7472	189020151	2134125	5697	13409											
TRIML1	339976	broad.mit.edu	37	chr4	189067986	189067986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttgcagcggagataacGctggacccagccacagctaa	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189067986G>A	ENST00000332517.3	+	6	1007	c.867G>A	c.(865-867)acG>acA	p.T289T	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	289	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CGGAGATAACGCTGGACCCAG	0.473													False	0	False	4:189067986	0	A	189067986	G	A	189067986	2	1	88	1	0	0	0	0	0	0	0	1	16633	1074	38	1		1	TRIML1	4	189067986	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47835	189067986	2086290	5698	13410											
PLEKHG4B	153478	broad.mit.edu	37	chr5	140602	140602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaccccaagtctagagaaGgagaggcacacacccagccg	11	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140602G>T	ENST00000283426.6	+	1	230	c.180G>T	c.(178-180)aaG>aaT	p.K60N		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	60					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTCTAGAGAAGGAGAGGCACA	0.662													False	0	False	5:140602	0	T	140602	G	T	140602	3	4	88	1	0	0	0	0	1	0	0	0	12141	991	35	3	182	3	PLEKHG4B	5	140602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		140602	180774658	5699	13411											
PLEKHG4B	153478	broad.mit.edu	37	chr5	182382	182382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactagagacgggcacccagGctgcagtgtgtgagggggct	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:182382G>A	ENST00000283426.6	+	18	3810	c.3760G>A	c.(3760-3762)Gct>Act	p.A1254T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1254					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGGCACCCAGGCTGCAGTGTG	0.622													False	0	False	5:182382	0	A	182382	G	A	182382	3	1	88	1	0	0	0	0	1	0	0	0	12141	1203	42	2	3830	2	PLEKHG4B	5	182382	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41780	182382	180732878	5700	13412											
LRRC14B	389257	broad.mit.edu	37	chr5	194943	194943	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgctggacctcagtggAcacaacctggtcagcctgta	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:194943A>G	ENST00000328278.3	+	2	1048	c.1020A>G	c.(1018-1020)ggA>ggG	p.G340G		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	340										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						ACCTCAGTGGACACAACCTGG	0.617													False	0	False	5:194943	0	G	194943	A	G	194943	2	3	88	1	0	0	0	0	0	0	0	1	9031	262	10	4		4	LRRC14B	5	194943	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12561	194943	180720317	5701	13413											
LRRC14B	389257	broad.mit.edu	37	chr5	195268	195268	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtccaagttcaaccagCagaaatacgacgagatcgcc	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:195268C>T	ENST00000328278.3	+	2	1373	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	449										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GTTCAACCAGCAGAAATACGA	0.617													False	0	False	5:195268	0	T	195268	C	T	195268	4	4	88	1	0	0	0	0	0	1	0	0	9031	711	25	2	1351	2	LRRC14B	5	195268	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325	195268	180719992	5702	13414											
SDHA	6389	broad.mit.edu	37	chr5	235284	235284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccctgagaaagatcacGtctacctgcagctgcaccac	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:235284G>A	ENST00000264932.6	+	9	1205	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	SDHA_ENST00000504309.1_Missense_Mutation_p.V364I|SDHA_ENST00000510361.1_Missense_Mutation_p.V316I	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	364					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GAAAGATCACGTCTACCTGCA	0.567									Familial Paragangliomas				False	0	False	5:235284	0	A	235284	G	A	235284	3	1	88	1	0	0	0	0	1	0	0	0	14044	1145	40	1	1124	1	SDHA	5	235284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40016	235284	180679976	5703	13415											
SDHA	6389	broad.mit.edu	37	chr5	251561	251561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggaaggagtcacggggcgCgcatgccagggaagactaca	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:251561C>T	ENST00000264932.6	+	13	1887	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Missense_Mutation_p.A543V|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	591				A -> T (in Ref. 3; AAD51006).	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCACGGGGCGCGCATGCCAGG	0.627									Familial Paragangliomas				False	0	True	5:251561	0	T	251561	C	T	251561	3	4	88	1	0	0	0	0	1	0	0	0	14044	768	27	1	1822	1	SDHA	5	251561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16277	251561	180663699	5704	13416											
AHRR	57491	broad.mit.edu	37	chr5	427974	427974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttggacagaagaagaaggCgccgtcaggagccatgctcc	14	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:427974C>T	ENST00000316418.5	+	9	871	c.827C>T	c.(826-828)gCg>gTg	p.A276V	AHRR_ENST00000512529.1_Missense_Mutation_p.A104V|AHRR_ENST00000505113.1_Missense_Mutation_p.A258V|AHRR_ENST00000506456.1_Missense_Mutation_p.A114V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AAGAAGAAGGCGCCGTCAGGA	0.562													False	0	False	5:427974	0	T	427974	C	T	427974	3	4	88	1	0	0	0	0	1	0	0	0	417	768	27	1	861	1	AHRR	5	427974	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176413	427974	180487286	5705	13417											
AHRR	57491	broad.mit.edu	37	chr5	434085	434085	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaaagcacagtgaggaTggtgccaggccgaggctgca	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:434085T>C	ENST00000316418.5	+	12	1340	c.1296T>C	c.(1294-1296)gaT>gaC	p.D432D	AHRR_ENST00000512529.1_Silent_p.D260D|AHRR_ENST00000505113.1_Silent_p.D414D|AHRR_ENST00000506456.1_Silent_p.D270D	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACAGTGAGGATGGTGCCAGGC	0.682													False	0	False	5:434085	0	C	434085	T	C	434085	2	2	88	1	0	0	0	0	0	0	0	1	417	1461	51	4		4	AHRR	5	434085	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6111	434085	180481175	5706	13418											
EXOC3	11336	broad.mit.edu	37	chr5	446344	446344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagacagaccgggaggcCgttgcgacagcagtgcaaag	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:446344C>T	ENST00000512944.1	+	2	213	c.24C>T	c.(22-24)gcC>gcT	p.A8A	EXOC3_ENST00000315013.5_Silent_p.A8A|EXOC3_ENST00000510441.1_3'UTR	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	19					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACCGGGAGGCCGTTGCGACAG	0.582													False	0	False	5:446344	0	T	446344	C	T	446344	2	4	88	1	0	0	0	0	0	0	0	1	5335	639	23	1		1	EXOC3	5	446344	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12259	446344	180468916	5707	13419											
EXOC3	11336	broad.mit.edu	37	chr5	453694	453694	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgagctggctaagcagctgTggatggtgctgcagaggtca	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:453694T>C	ENST00000512944.1	+	4	763	c.574T>C	c.(574-576)Tgg>Cgg	p.W192R	EXOC3_ENST00000315013.5_Missense_Mutation_p.W192R	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	203					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAAGCAGCTGTGGATGGTGCT	0.567													False	0	False	5:453694	0	C	453694	T	C	453694	3	2	88	1	0	0	0	0	1	0	0	0	5335	1696	59	4	584	4	EXOC3	5	453694	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7350	453694	180461566	5708	13420											
SLC9A3	6550	broad.mit.edu	37	chr5	485298	485298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgcagtccacgccagtcaCgttgtcacctcccagcgcca	8	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:485298C>T	ENST00000264938.3	-	4	733	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	SLC9A3_ENST00000514375.1_Missense_Mutation_p.V242M	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	242						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACGCCAGTCACGTTGTCACCT	0.607													False	0	False	5:485298	0	T	485298	C	T	485298	3	4	88	1	0	0	0	0	1	0	0	0	14793	536	19	1	1836	1	SLC9A3	5	485298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31604	485298	180429962	5709	13421											
CEP72	55722	broad.mit.edu	37	chr5	619199	619199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacaggtctgaaatctttGgatctctcgcgcaactcctt	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:619199G>A	ENST00000264935.5	+	2	267	c.177G>A	c.(175-177)ttG>ttA	p.L59L	CEP72_ENST00000444221.1_Silent_p.L59L	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	59					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGAAATCTTTGGATCTCTCGC	0.418													False	0	True	5:619199	0	A	619199	G	A	619199	2	1	88	1	0	0	0	0	0	0	0	1	3283	1339	47	2		2	CEP72	5	619199	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133901	619199	180296061	5710	13422											
CEP72	55722	broad.mit.edu	37	chr5	639260	639260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacggccctgcaggcggcGctcctggagacgctcttgga	15	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:639260G>A	ENST00000264935.5	+	8	1353	c.1263G>A	c.(1261-1263)gcG>gcA	p.A421A	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	421					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGCAGGCGGCGCTCCTGGAGA	0.642													False	0	False	5:639260	0	A	639260	G	A	639260	2	1	88	1	0	0	0	0	0	0	0	1	3283	1074	38	1		1	CEP72	5	639260	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20061	639260	180276000	5711	13423											
CEP72	55722	broad.mit.edu	37	chr5	653215	653215	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accaggagctcaagaagaccAtggccctgtttccacacagc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:653215A>G	ENST00000264935.5	+	12	1981	c.1891A>G	c.(1891-1893)Atg>Gtg	p.M631V	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	631					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CAAGAAGACCATGGCCCTGTT	0.612													False	0	False	5:653215	0	G	653215	A	G	653215	3	3	88	1	0	0	0	0	1	0	0	0	3283	217	8	4	1937	4	CEP72	5	653215	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13955	653215	180262045	5712	13424											
TPPP	11076	broad.mit.edu	37	chr5	677962	677962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgaccagttcttgccgtGcatctccctcccggtggccc	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:677962G>A	ENST00000360578.5	-	2	335	c.214C>T	c.(214-216)Cac>Tac	p.H72Y		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	72	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TTCTTGCCGTGCATCTCCCTC	0.642													False	0	False	5:677962	0	A	677962	G	A	677962	3	1	88	1	0	0	0	0	1	0	0	0	16496	1319	46	2	457	2	TPPP	5	677962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24747	677962	180237298	5713	13425											
TPPP	11076	broad.mit.edu	37	chr5	678080	678080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaccctccgattccagCgacagcctcttggctgcccg	9	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:678080C>T	ENST00000360578.5	-	2	217	c.96G>A	c.(94-96)tcG>tcA	p.S32S		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	32	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CCGATTCCAGCGACAGCCTCT	0.692													False	0	False	5:678080	0	T	678080	C	T	678080	2	4	88	1	0	0	0	0	0	0	0	1	16496	755	27	1		1	TPPP	5	678080	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	678080	180237180	5714	13426											
NKD2	85409	broad.mit.edu	37	chr5	1034966	1034966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctccgtgtgaagctaacCgtcagccctgagccctccag	9	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1034966C>T	ENST00000296849.5	+	7	751	c.522C>T	c.(520-522)acC>acT	p.T174T	NKD2_ENST00000274150.4_Silent_p.T174T|NKD2_ENST00000537972.1_Silent_p.T174T	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	174	Interaction with DVL1, DVL2 and DVL3 (By similarity).				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.T174T(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			TGAAGCTAACCGTCAGCCCTG	0.617													False	0	False	5:1034966	0	T	1034966	C	T	1034966	2	4	88	1	0	0	0	0	0	0	0	1	10510	639	23	1		1	NKD2	5	1034966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356886	1034966	179880294	5715	13427											
SLC12A7	10723	broad.mit.edu	37	chr5	1052522	1052522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgccacccctgaccaggaGgactctgttcagcccctcgg	11	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1052522G>T	ENST00000264930.5	-	24	3248	c.3205C>A	c.(3205-3207)Ctc>Atc	p.L1069I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1069					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTGACCAGGAGGACTCTGTTC	0.582													False	0	False	5:1052522	0	T	1052522	G	T	1052522	3	4	88	1	0	0	0	0	1	0	0	0	14469	1000	35	3	50	3	SLC12A7	5	1052522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17556	1052522	179862738	5716	13428											
SLC12A7	10723	broad.mit.edu	37	chr5	1052541	1052541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggactctgttcagcccctcGgtcaggacttcaagaaactc	9	13	4	1	rs138980870		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1052541G>A	ENST00000264930.5	-	24	3229	c.3186C>T	c.(3184-3186)acC>acT	p.T1062T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1062					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCAGCCCCTCGGTCAGGACTT	0.552													False	0	False	5:1052541	0	A	1052541	G	A	1052541	2	1	88	1	0	0	0	0	0	0	0	1	14469	1103	39	1		1	SLC12A7	5	1052541	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	1052541	179862719	5717	13429											
SLC12A7	10723	broad.mit.edu	37	chr5	1084037	1084037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgcaggcatcgaagctgcGccgtgacagcgtgcggttcc	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1084037G>A	ENST00000264930.5	-	8	995	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	318					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCGAAGCTGCGCCGTGACAGC	0.682													False	0	False	5:1084037	0	A	1084037	G	A	1084037	3	1	88	1	0	0	0	0	1	0	0	0	14469	1087	38	1	2367	1	SLC12A7	5	1084037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31496	1084037	179831223	5718	13430											
SLC6A18	348932	broad.mit.edu	37	chr5	1232923	1232923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtactacaacaccatcgtggCgtgggtgctgtggtacctcc	12	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1232923C>T	ENST00000324642.3	+	3	482	c.359C>T	c.(358-360)gCg>gTg	p.A120V	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A120V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	120					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCATCGTGGCGTGGGTGCTG	0.652													False	0	True	5:1232923	0	T	1232923	C	T	1232923	3	4	88	1	0	0	0	0	1	0	0	0	14761	768	27	1	369	1	SLC6A18	5	1232923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148886	1232923	179682337	5719	13431											
SLC6A18	348932	broad.mit.edu	37	chr5	1240706	1240706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaggatgacctccctgtaCgcgtccatcgctgtcttctc	8	15	2	1	rs149285920		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1240706C>T	ENST00000324642.3	+	7	1029	c.906C>T	c.(904-906)taC>taT	p.Y302Y	SLC6A18_ENST00000296821.4_Silent_p.Y297Y	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	302					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTCCCTGTACGCGTCCATCG	0.592													False	0	False	5:1240706	0	T	1240706	C	T	1240706	2	4	88	1	0	0	0	0	0	0	0	1	14761	547	19	1		1	SLC6A18	5	1240706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7783	1240706	179674554	5720	13432											
SLC6A18	348932	broad.mit.edu	37	chr5	1242833	1242833	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccgcagaaacatcctcaGcctcatcaacgactttgact	5	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1242833G>T	ENST00000324642.3	+	8	1109	c.986G>T	c.(985-987)aGc>aTc	p.S329I	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	329					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AACATCCTCAGCCTCATCAAC	0.587													False	0	False	5:1242833	0	T	1242833	G	T	1242833	3	4	88	1	0	0	0	0	1	0	0	0	14761	971	34	3	1016	3	SLC6A18	5	1242833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2127	1242833	179672427	5721	13433											
TERT	0	broad.mit.edu	37	chr5	1254618	1254618	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccttggcccccagcgacaTccctgggggaaaacagaggc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1254618T>C	ENST00000310581.5	-	15	3217	c.3160A>G	c.(3160-3162)Atg>Gtg	p.M1054V	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.M991V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1054	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCAGCGACATCCCTGGGGGA	0.687									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				False	0	True	5:1254618	0	C	1254618	T	C	1254618	3	2	88	1	0	0	0	0	1	0	0	0	15846	1435	50	4	246	4	TERT	5	1254618	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11785	1254618	179660642	5722	13434											
TERT	0	broad.mit.edu	37	chr5	1282650	1282650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagaaagacctgagcagctCgacgacgtacacactcatca	8	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1282650C>T	ENST00000310581.5	-	3	1720	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	TERT_ENST00000296820.5_Missense_Mutation_p.E555K|TERT_ENST00000508104.2_Missense_Mutation_p.E555K|TERT_ENST00000334602.6_Missense_Mutation_p.E555K	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	555					anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	p.E555Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGAGCAGCTCGACGACGTAC	0.527									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				False	0	False	5:1282650	0	T	1282650	C	T	1282650	3	4	88	1	0	0	0	0	1	0	0	0	15846	893	31	1	1791	1	TERT	5	1282650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28032	1282650	179632610	5723	13435											
SLC6A3	6531	broad.mit.edu	37	chr5	1403077	1403077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcagaacttgtaggccGcatagatgggcaccatggcc	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1403077G>A	ENST00000270349.9	-	13	1854	c.1727C>T	c.(1726-1728)gCg>gTg	p.A576V	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	576	Interaction with TGFB1I1.				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CTTGTAGGCCGCATAGATGGG	0.632													False	0	False	5:1403077	0	A	1403077	G	A	1403077	3	1	88	1	0	0	0	0	1	0	0	0	14765	1087	38	1	147	1	SLC6A3	5	1403077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120427	1403077	179512183	5724	13436											
SLC6A3	6531	broad.mit.edu	37	chr5	1414875	1414875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggaaggagaagacgaCgaagccggaggagaagctcg	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1414875C>T	ENST00000270349.9	-	8	1214	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V363I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	363					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GAGAAGACGACGAAGCCGGAG	0.612													False	0	False	5:1414875	0	T	1414875	C	T	1414875	3	4	88	1	0	0	0	0	1	0	0	0	14765	536	19	1	807	1	SLC6A3	5	1414875	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11798	1414875	179500385	5725	13437											
NDUFS6	4726	broad.mit.edu	37	chr5	1802444	1802444	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttttttccaggtttatgatGataaagactacaggagaatt	8	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1802444G>A	ENST00000274137.5	+	2	160	c.142G>A	c.(142-144)Gat>Aat	p.D48N	NDUFS6_ENST00000469176.1_Missense_Mutation_p.D48N	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	48					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7					NADH(DB00157)	GGTTTATGATGATAAAGACTA	0.338													False	0	False	5:1802444	0	A	1802444	G	A	1802444	3	1	88	1	0	0	0	0	1	0	0	0	10364	1290	45	2	148	2	NDUFS6	5	1802444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	387569	1802444	179112816	5726	13438											
IRX2	153572	broad.mit.edu	37	chr5	2747723	2747723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaccacggtgcagccctcGctggcatctgtcaggggagt	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2747723G>A	ENST00000382611.6	-	4	1619	c.1371C>T	c.(1369-1371)agC>agT	p.S457S	IRX2_ENST00000302057.5_Silent_p.S457S	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	457						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGCAGCCCTCGCTGGCATCTG	0.642													False	0	False	5:2747723	0	A	2747723	G	A	2747723	2	1	88	1	0	0	0	0	0	0	0	1	7894	1078	38	1		1	IRX2	5	2747723	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	945279	2747723	178167537	5727	13439											
IRX2	153572	broad.mit.edu	37	chr5	2748989	2748989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcacgggcttgggcggcGccaggccccgctcgccctcc	15	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2748989G>A	ENST00000382611.6	-	3	1081	c.833C>T	c.(832-834)gCg>gTg	p.A278V	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.A278V	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	278						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CTTGGGCGGCGCCAGGCCCCG	0.746													False	0	False	5:2748989	0	A	2748989	G	A	2748989	3	1	88	1	0	0	0	0	1	0	0	0	7894	1087	38	1	590	1	IRX2	5	2748989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1266	2748989	178166271	5728	13440											
IRX2	153572	broad.mit.edu	37	chr5	2749012	2749012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccccgctcgccctcctcGtcgtcgtcctcgtcgtcctc	9	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749012G>A	ENST00000382611.6	-	3	1058	c.810C>T	c.(808-810)gaC>gaT	p.D270D	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.D270D	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	270						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGCCCTCCTCGTCGTCGTCCT	0.731													False	0	True	5:2749012	0	A	2749012	G	A	2749012	2	1	88	1	0	0	0	0	0	0	0	1	7894	1136	40	1		1	IRX2	5	2749012	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	2749012	178166248	5729	13441											
IRX2	153572	broad.mit.edu	37	chr5	2749024	2749024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcctcgtcgtcgtcctcGtcgtcctccaggtcgtcata	8	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749024G>A	ENST00000382611.6	-	3	1046	c.798C>T	c.(796-798)gaC>gaT	p.D266D	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.D266D	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	266						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGTCGTCCTCGTCGTCCTCCA	0.726													False	0	True	5:2749024	0	A	2749024	G	A	2749024	2	1	88	1	0	0	0	0	0	0	0	1	7894	1136	40	1		1	IRX2	5	2749024	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	2749024	178166236	5730	13442											
IRX2	153572	broad.mit.edu	37	chr5	2749548	2749548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccttgtcgggactctcGtccttgcttctggtagcgtc	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749548G>A	ENST00000382611.6	-	2	851	c.603C>T	c.(601-603)gaC>gaT	p.D201D	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.D201D	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	201						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGACTCTCGTCCTTGCTTC	0.652													False	0	False	5:2749548	0	A	2749548	G	A	2749548	2	1	88	1	0	0	0	0	0	0	0	1	7894	1136	40	1		1	IRX2	5	2749548	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	524	2749548	178165712	5731	13443											
IRX2	153572	broad.mit.edu	37	chr5	2749615	2749615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtttctcggggcccagGtcatcttgttctccttcttg	9	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749615G>A	ENST00000382611.6	-	2	784	c.536C>T	c.(535-537)aCc>aTc	p.T179I	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.T179I	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T179>I(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGGCCCAGGTCATCTTGTT	0.602													False	0	False	5:2749615	0	A	2749615	G	A	2749615	3	1	88	1	0	0	0	0	1	0	0	0	7894	1261	44	2	891	2	IRX2	5	2749615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	2749615	178165645	5732	13444											
IRX2	153572	broad.mit.edu	37	chr5	2749890	2749890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccggtggtgtgcgcgtcGtagggtgcgccctggaacca	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749890G>A	ENST00000382611.6	-	2	509	c.261C>T	c.(259-261)taC>taT	p.Y87Y	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.Y87Y	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	87						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGTGCGCGTCGTAGGGTGCGC	0.692													False	0	False	5:2749890	0	A	2749890	G	A	2749890	2	1	88	1	0	0	0	0	0	0	0	1	7894	1140	40	1		1	IRX2	5	2749890	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275	2749890	178165370	5733	13445											
C5orf38	153571	broad.mit.edu	37	chr5	2752520	2752520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccctcgcggtccactccGcccagcatggacctggatcc	9	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2752520G>A	ENST00000515640.1	+	1	161	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000457752.2_Missense_Mutation_p.A48T|C5orf38_ENST00000505778.1_Missense_Mutation_p.A48T|C5orf38_ENST00000397835.4_Missense_Mutation_p.A48T|C5orf38_ENST00000334000.3_Missense_Mutation_p.A48T			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	48						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GGTCCACTCCGCCCAGCATGG	0.711													False	0	True	5:2752520	0	A	2752520	G	A	2752520	3	1	88	1	0	0	0	0	1	0	0	0	2313	1087	38	1	144	1	C5orf38	5	2752520	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2630	2752520	178162740	5734	13446											
IRX1	79192	broad.mit.edu	37	chr5	3599539	3599539	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctaccccaccaagggcgaGaagatcatgctggccatcat	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3599539G>T	ENST00000302006.3	+	2	529	c.477G>T	c.(475-477)gaG>gaT	p.E159D	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	159						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCAAGGGCGAGAAGATCATGC	0.637													False	0	False	5:3599539	0	T	3599539	G	T	3599539	3	4	88	1	0	0	0	0	1	0	0	0	7893	933	33	3	483	3	IRX1	5	3599539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	847019	3599539	177315721	5735	13447											
IRX1	79192	broad.mit.edu	37	chr5	3599698	3599698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggcagcgacaccgagggCgacccggagaaggccgagga	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3599698C>T	ENST00000302006.3	+	2	688	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACCGAGGGCGACCCGGAGA	0.627													False	0	True	5:3599698	0	T	3599698	C	T	3599698	2	4	88	1	0	0	0	0	0	0	0	1	7893	755	27	1		1	IRX1	5	3599698	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159	3599698	177315562	5736	13448											
IRX1	79192	broad.mit.edu	37	chr5	3600167	3600167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactgtacacctgccacatcGgcaagttctccaactggacc	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3600167G>A	ENST00000302006.3	+	2	1157	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	369						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTGCCACATCGGCAAGTTCTC	0.711													False	0	False	5:3600167	0	A	3600167	G	A	3600167	3	1	88	1	0	0	0	0	1	0	0	0	7893	1116	39	1	1111	1	IRX1	5	3600167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	469	3600167	177315093	5737	13449											
IRX1	79192	broad.mit.edu	37	chr5	3600738	3600738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagagagagacctcgtccCcaggccagattcgccggcac	12	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3600738C>T	ENST00000302006.3	+	3	1380	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L		NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	443						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACCTCGTCCCCAGGCCAGAT	0.617													False	0	True	5:3600738	0	T	3600738	C	T	3600738	3	4	88	1	0	0	0	0	1	0	0	0	7893	623	22	2	1338	2	IRX1	5	3600738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	571	3600738	177314522	5738	13450											
ADAMTS16	170690	broad.mit.edu	37	chr5	5232600	5232600	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctgcggagggggagtatcTcataggagtcgcctctgcac	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5232600T>A	ENST00000274181.7	+	12	1959	c.1821T>A	c.(1819-1821)tcT>tcA	p.S607S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	607	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGGAGTATCTCATAGGAGTC	0.557													False	0	False	5:5232600	0	A	5232600	T	A	5232600	2	1	88	1	0	0	0	0	0	0	0	1	261	1538	54	5		5	ADAMTS16	5	5232600	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1631862	5232600	175682660	5739	13451											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239367	5239367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcacaggggtctctacaCcaagcaccaccacaccaacc	6	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5239367C>T	ENST00000274181.7	+	15	2396	c.2258C>T	c.(2257-2259)aCc>aTc	p.T753I		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	753	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGTCTCTACACCAAGCACCAC	0.512													False	0	False	5:5239367	0	T	5239367	C	T	5239367	3	4	88	1	0	0	0	0	1	0	0	0	261	507	18	2	2316	2	ADAMTS16	5	5239367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6767	5239367	175675893	5740	13452											
ADAMTS16	170690	broad.mit.edu	37	chr5	5306689	5306689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtatgtttctggaaagTatcgagagctggcctcaaag	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5306689T>C	ENST00000274181.7	+	21	3397	c.3259T>C	c.(3259-3261)Tat>Cat	p.Y1087H		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1087	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TTCTGGAAAGTATCGAGAGCT	0.488													False	0	False	5:5306689	0	C	5306689	T	C	5306689	3	2	88	1	0	0	0	0	1	0	0	0	261	1638	57	4	3341	4	ADAMTS16	5	5306689	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	67322	5306689	175608571	5741	13453											
ADAMTS16	170690	broad.mit.edu	37	chr5	5306714	5306714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctggcctcaaagaagtGctcacatttgccgaagccca	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5306714G>A	ENST00000274181.7	+	21	3422	c.3284G>A	c.(3283-3285)tGc>tAc	p.C1095Y		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1095	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCAAAGAAGTGCTCACATTTG	0.542													False	0	False	5:5306714	0	A	5306714	G	A	5306714	3	1	88	1	0	0	0	0	1	0	0	0	261	1319	46	2	3366	2	ADAMTS16	5	5306714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25	5306714	175608546	5742	13454											
KIAA0947	23379	broad.mit.edu	37	chr5	5460762	5460762	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggaagtaaataaagtgacaActtctggactcgagactttc	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5460762A>T	ENST00000296564.7	+	13	1537	c.1315A>T	c.(1315-1317)Act>Tct	p.T439S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	439										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TAAAGTGACAACTTCTGGACT	0.433													False	0	False	5:5460762	0	T	5460762	A	T	5460762	3	4	88	1	0	0	0	0	1	0	0	0	8252	43	2	5	1365	5	KIAA0947	5	5460762	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	154048	5460762	175454498	5743	13455											
KIAA0947	23379	broad.mit.edu	37	chr5	5463617	5463617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagttctaactgcgaggcCgaaacaacatttcagtgtca	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5463617C>T	ENST00000296564.7	+	13	4392	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1390										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACTGCGAGGCCGAAACAACAT	0.453													False	0	False	5:5463617	0	T	5463617	C	T	5463617	2	4	88	1	0	0	0	0	0	0	0	1	8252	639	23	1		1	KIAA0947	5	5463617	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2855	5463617	175451643	5744	13456											
KIAA0947	23379	broad.mit.edu	37	chr5	5463972	5463972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaccaactttgataagagtCgtttgcgaaatagacccgtt	9	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5463972C>T	ENST00000296564.7	+	13	4747	c.4525C>T	c.(4525-4527)Cgt>Tgt	p.R1509C		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1509										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGATAAGAGTCGTTTGCGAAA	0.428													False	0	False	5:5463972	0	T	5463972	C	T	5463972	3	4	88	1	0	0	0	0	1	0	0	0	8252	884	31	1	4575	1	KIAA0947	5	5463972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	355	5463972	175451288	5745	13457											
KIAA0947	23379	broad.mit.edu	37	chr5	5464772	5464772	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcaaagggaatattcaactCacacgaggtccgcctgctga	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5464772C>T	ENST00000296564.7	+	13	5547	c.5325C>T	c.(5323-5325)ctC>ctT	p.L1775L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1775										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATATTCAACTCACACGAGGTC	0.483													False	0	False	5:5464772	0	T	5464772	C	T	5464772	2	4	88	1	0	0	0	0	0	0	0	1	8252	813	29	2		2	KIAA0947	5	5464772	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	800	5464772	175450488	5746	13458											
KIAA0947	23379	broad.mit.edu	37	chr5	5489440	5489440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcacagaggagcttggCtgacctgggatgccactgag	15	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5489440C>T	ENST00000296564.7	+	19	7020	c.6798C>T	c.(6796-6798)ggC>ggT	p.G2266G		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2266										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGGAGCTTGGCTGACCTGGGA	0.498													False	0	False	5:5489440	0	T	5489440	C	T	5489440	2	4	88	1	0	0	0	0	0	0	0	1	8252	784	28	2		2	KIAA0947	5	5489440	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24668	5489440	175425820	5747	13459											
MED10	84246	broad.mit.edu	37	chr5	6372625	6372625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgagctggttaagaaggCgggtgatcctccccccggat	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6372625C>T	ENST00000255764.3	-	4	509	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	133					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						GTTAAGAAGGCGGGTGATCCT	0.522													False	0	True	5:6372625	0	T	6372625	C	T	6372625	2	4	88	1	0	0	0	0	0	0	0	1	9493	755	27	1		1	MED10	5	6372625	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	883185	6372625	174542635	5748	13460											
MED10	84246	broad.mit.edu	37	chr5	6378502	6378502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgagcccggcctggctgCtgggctggaagtcactgacg	17	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6378502C>T	ENST00000255764.3	-	1	205	c.95G>A	c.(94-96)aGc>aAc	p.S32N		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	32					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						GGCCTGGCTGCTGGGCTGGAA	0.647													False	0	True	5:6378502	0	T	6378502	C	T	6378502	3	4	88	1	0	0	0	0	1	0	0	0	9493	797	28	2	328	2	MED10	5	6378502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5877	6378502	174536758	5749	13461											
NSUN2	54888	broad.mit.edu	37	chr5	6604331	6604331	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaacagtatcttaacaTcttccattgatacagtaata	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6604331T>G	ENST00000264670.6	-	17	2188	c.1877A>C	c.(1876-1878)gAt>gCt	p.D626A	NSUN2_ENST00000506139.1_Missense_Mutation_p.D591A|NSUN2_ENST00000539938.1_Missense_Mutation_p.D390A	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	626						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TATCTTAACATCTTCCATTGA	0.363													False	0	False	5:6604331	0	G	6604331	T	G	6604331	3	3	88	1	0	0	0	0	1	0	0	0	10746	1435	50	4	438	4	NSUN2	5	6604331	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	225829	6604331	174310929	5750	13462											
ADCY2	108	broad.mit.edu	37	chr5	7713003	7713003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcataattttcaaaatcGcaccttaaggtatggtatct	6	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7713003G>A	ENST00000338316.4	+	11	1702	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	ADCY2_ENST00000537121.1_Missense_Mutation_p.R358H|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	538					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTCAAAATCGCACCTTAAGG	0.303													False	0	False	5:7713003	0	A	7713003	G	A	7713003	3	1	88	1	0	0	0	0	1	0	0	0	294	1087	38	1	1655	1	ADCY2	5	7713003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1108672	7713003	173202257	5751	13463											
ADCY2	108	broad.mit.edu	37	chr5	7717276	7717276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttttcatatagaaccaaGtcacaaaagaagagatttga	6	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7717276G>A	ENST00000338316.4	+	12	1718	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	ADCY2_ENST00000537121.1_Silent_p.K363K|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	543					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATAGAACCAAGTCACAAAAGA	0.264													False	0	False	5:7717276	0	A	7717276	G	A	7717276	2	1	88	1	0	0	0	0	0	0	0	1	294	1020	36	2		2	ADCY2	5	7717276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4273	7717276	173197984	5752	13464											
C5orf49	134121	broad.mit.edu	37	chr5	7832130	7832130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacgtcagcactccaaccgGcctctcctgttcctggtgaa	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7832130G>T	ENST00000399810.2	-	3	745	c.277C>A	c.(277-279)Ccg>Acg	p.P93T	C5orf49_ENST00000509627.1_Missense_Mutation_p.P91T	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	93										large_intestine(3)|lung(5)|skin(1)	9						ACTCCAACCGGCCTCTCCTGT	0.567													False	0	False	5:7832130	0	T	7832130	G	T	7832130	3	4	88	1	0	0	0	0	1	0	0	0	2324	1203	42	3	170	3	C5orf49	5	7832130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114854	7832130	173083130	5753	13465											
FASTKD3	79072	broad.mit.edu	37	chr5	7861322	7861322	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatagcttctttccccagTaagtgtttgctattggagca	8	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7861322T>C	ENST00000264669.5	-	6	1960	c.1824A>G	c.(1822-1824)ttA>ttG	p.L608L	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	608	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTTCCCCAGTAAGTGTTTGC	0.328													False	0	False	5:7861322	0	C	7861322	T	C	7861322	2	2	88	1	0	0	0	0	0	0	0	1	5727	1635	57	4		4	FASTKD3	5	7861322	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29192	7861322	173053938	5754	13466											
FASTKD3	79072	broad.mit.edu	37	chr5	7866895	7866895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaatgagtgaatagcacGttttccagctttctaaataa	7	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7866895G>A	ENST00000264669.5	-	2	1438	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	434					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAATAGCACGTTTTCCAGCT	0.353													False	0	True	5:7866895	0	A	7866895	G	A	7866895	2	1	88	1	0	0	0	0	0	0	0	1	5727	1136	40	1		1	FASTKD3	5	7866895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5573	7866895	173048365	5755	13467											
FASTKD3	79072	broad.mit.edu	37	chr5	7867281	7867281	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatgcttgactttgatcaaGaaccaccagggcagtgagca	10	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7867281G>T	ENST00000264669.5	-	2	1052	c.916C>A	c.(916-918)Ctt>Att	p.L306I	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	306					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTTGATCAAGAACCACCAGG	0.388													False	0	False	5:7867281	0	T	7867281	G	T	7867281	3	4	88	1	0	0	0	0	1	0	0	0	5727	942	33	3	1096	3	FASTKD3	5	7867281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	386	7867281	173047979	5756	13468											
FASTKD3	79072	broad.mit.edu	37	chr5	7867410	7867410	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttcagtacatgcctgcaAgattctataaagggccacaa	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7867410A>C	ENST00000264669.5	-	2	923	c.787T>G	c.(787-789)Ttg>Gtg	p.L263V	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	263					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATGCCTGCAAGATTCTATAA	0.353													False	0	False	5:7867410	0	C	7867410	A	C	7867410	3	2	88	1	0	0	0	0	1	0	0	0	5727	69	3	4	1225	4	FASTKD3	5	7867410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	129	7867410	173047850	5757	13469											
FASTKD3	79072	broad.mit.edu	37	chr5	7868079	7868079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaaccaagggcacagacGctccttgactaccttgtgaa	8	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7868079G>A	ENST00000264669.5	-	2	254	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	40					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGCACAGACGCTCCTTGACT	0.408													False	0	False	5:7868079	0	A	7868079	G	A	7868079	3	1	88	1	0	0	0	0	1	0	0	0	5727	1087	38	1	1894	1	FASTKD3	5	7868079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	669	7868079	173047181	5758	13470											
MTRR	4552	broad.mit.edu	37	chr5	7897209	7897209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatttccttaagcatgggAtcttaactcatctaaaggtt	7	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7897209A>G	ENST00000264668.2	+	14	1912	c.1882A>G	c.(1882-1884)Atc>Gtc	p.I628V	MTRR_ENST00000440940.2_Missense_Mutation_p.I601V	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	628					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TAAGCATGGGATCTTAACTCA	0.398													False	0	True	5:7897209	0	G	7897209	A	G	7897209	3	3	88	1	0	0	0	0	1	0	0	0	10028	333	12	4	1936	4	MTRR	5	7897209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29130	7897209	173018051	5759	13471											
SEMA5A	9037	broad.mit.edu	37	chr5	9122771	9122771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttctgagcggcacacctgGaacagttggcgatctccatg	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9122771G>A	ENST00000382496.5	-	14	2443	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	593	TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGCACACCTGGAACAGTTGGC	0.567													False	0	False	5:9122771	0	A	9122771	G	A	9122771	3	1	88	1	0	0	0	0	1	0	0	0	14118	1174	41	2	1486	2	SEMA5A	5	9122771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1225562	9122771	171792489	5760	13472											
SEMA5A	9037	broad.mit.edu	37	chr5	9154665	9154665	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtgctcccgcaggcccacGaacaggacactctggctgtg	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9154665G>A	ENST00000382496.5	-	12	2081	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	472	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.F472F(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCAGGCCCACGAACAGGACAC	0.612													False	0	False	5:9154665	0	A	9154665	G	A	9154665	2	1	88	1	0	0	0	0	0	0	0	1	14118	1049	37	1		1	SEMA5A	5	9154665	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31894	9154665	171760595	5761	13473											
SEMA5A	9037	broad.mit.edu	37	chr5	9197373	9197373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaggcctgcgcgatggcGctcaggttgaagacgcacac	15	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9197373G>A	ENST00000382496.5	-	10	1640	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	325	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCGCGATGGCGCTCAGGTTGA	0.597													False	0	False	5:9197373	0	A	9197373	G	A	9197373	2	1	88	1	0	0	0	0	0	0	0	1	14118	1078	38	1		1	SEMA5A	5	9197373	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42708	9197373	171717887	5762	13474											
SEMA5A	9037	broad.mit.edu	37	chr5	9380032	9380032	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccaggcttgagaacagCcatgctataacacaggttcc	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9380032C>T	ENST00000382496.5	-	3	692	c.27G>A	c.(25-27)tgG>tgA	p.W9*	CTD-2201E9.4_ENST00000511310.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	9					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TTGAGAACAGCCATGCTATAA	0.547													False	0	False	5:9380032	0	T	9380032	C	T	9380032	4	4	88	1	0	0	0	0	0	1	0	0	14118	740	26	2	3281	2	SEMA5A	5	9380032	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182659	9380032	171535228	5763	13475											
TAS2R1	50834	broad.mit.edu	37	chr5	9629925	9629925	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgcagaacacatgatgaattCtatgaagaagataacaatca	7	7	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9629925C>A	ENST00000382492.2	-	1	538	c.220G>T	c.(220-222)Gaa>Taa	p.E74*	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	74					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ATGATGAATTCTATGAAGAAG	0.388													False	0	False	5:9629925	0	A	9629925	C	A	9629925	4	1	88	1	0	0	0	0	0	1	0	0	15647	922	32	3	683	3	TAS2R1	5	9629925	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249893	9629925	171285335	5764	13476											
FAM173B	134145	broad.mit.edu	37	chr5	10236629	10236629	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaatttggcagatccatgCacaccttctcgccaagcgcg	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10236629C>T	ENST00000511437.1	-	3	417	c.405G>A	c.(403-405)gtG>gtA	p.V135V	FAM173B_ENST00000510047.1_Silent_p.V135V|FAM173B_ENST00000510052.1_Intron|FAM173B_ENST00000280330.8_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	135						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CAGATCCATGCACACCTTCTC	0.413													False	0	False	5:10236629	0	T	10236629	C	T	10236629	2	4	88	1	0	0	0	0	0	0	0	1	5530	697	25	2		2	FAM173B	5	10236629	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	606704	10236629	170678631	5765	13477											
FAM173B	134145	broad.mit.edu	37	chr5	10239412	10239412	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaactgttgacttcaaaacTtgcaggtagaacatgtcttg	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10239412T>G	ENST00000511437.1	-	2	85	c.73A>C	c.(73-75)Agt>Cgt	p.S25R	FAM173B_ENST00000510047.1_Missense_Mutation_p.S25R|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	25						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACTTCAAAACTTGCAGGTAGA	0.463													False	0	False	5:10239412	0	G	10239412	T	G	10239412	3	3	88	1	0	0	0	0	1	0	0	0	5530	1609	56	4	644	4	FAM173B	5	10239412	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2783	10239412	170675848	5766	13478											
CCT5	22948	broad.mit.edu	37	chr5	10250488	10250488	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accctcgccttcgatgaataTgggcgccctttcctcatcat	7	15	2	1	rs111848991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10250488T>C	ENST00000280326.4	+	1	456	c.36T>C	c.(34-36)taT>taC	p.Y12Y	CCT5_ENST00000503026.1_Intron|CCT5_ENST00000515390.1_Silent_p.Y12Y	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	12					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TCGATGAATATGGGCGCCCTT	0.592													False	0	True	5:10250488	0	C	10250488	T	C	10250488	2	2	88	1	0	0	0	0	0	0	0	1	2979	1471	51	4		4	CCT5	5	10250488	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11076	10250488	170664772	5767	13479											
CCT5	22948	broad.mit.edu	37	chr5	10256191	10256191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacacctggacaagatcagCgatagcgtccttgttgacat	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10256191C>T	ENST00000280326.4	+	4	876	c.456C>T	c.(454-456)agC>agT	p.S152S	CCT5_ENST00000503026.1_Silent_p.S131S|CCT5_ENST00000515676.1_Silent_p.S114S|CCT5_ENST00000515390.1_Silent_p.S97S|CCT5_ENST00000506600.1_Silent_p.S59S	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	152					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ACAAGATCAGCGATAGCGTCC	0.483													False	0	False	5:10256191	0	T	10256191	C	T	10256191	2	4	88	1	0	0	0	0	0	0	0	1	2979	767	27	1		1	CCT5	5	10256191	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5703	10256191	170659069	5768	13480											
CCT5	22948	broad.mit.edu	37	chr5	10258614	10258614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaagcccttcagaaataCgaaaaggagaaatttgaaga	8	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10258614C>T	ENST00000280326.4	+	6	1260	c.840C>T	c.(838-840)taC>taT	p.Y280Y	CCT5_ENST00000503026.1_Silent_p.Y259Y|CCT5_ENST00000515676.1_Silent_p.Y242Y|CCT5_ENST00000515390.1_Silent_p.Y225Y|CCT5_ENST00000506600.1_Silent_p.Y187Y	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	280					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TTCAGAAATACGAAAAGGAGA	0.383													False	0	False	5:10258614	0	T	10258614	C	T	10258614	2	4	88	1	0	0	0	0	0	0	0	1	2979	547	19	1		1	CCT5	5	10258614	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2423	10258614	170656646	5769	13481											
CCT5	22948	broad.mit.edu	37	chr5	10261800	10261800	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggataaaatgctggtcatCgagcagtgtaagaactccag	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10261800C>T	ENST00000280326.4	+	8	1542	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	CCT5_ENST00000503026.1_Silent_p.I353I|CCT5_ENST00000515676.1_Silent_p.I336I|CCT5_ENST00000515390.1_Silent_p.I319I|CCT5_ENST00000506600.1_Silent_p.I281I	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	374					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TGCTGGTCATCGAGCAGTGTA	0.433													False	0	False	5:10261800	0	T	10261800	C	T	10261800	2	4	88	1	0	0	0	0	0	0	0	1	2979	874	31	1		1	CCT5	5	10261800	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3186	10261800	170653460	5770	13482											
MARCH6	10299	broad.mit.edu	37	chr5	10391791	10391791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggacaatgaggaGgaagatgacgctggtgtgga	20	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10391791G>T	ENST00000274140.5	+	7	846	c.714G>T	c.(712-714)gaG>gaT	p.E238D	MARCH6_ENST00000449913.2_Missense_Mutation_p.E190D|MARCH6_ENST00000503788.1_Missense_Mutation_p.E133D	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	238					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						acaatgaggaggaagatgaCG	0.557													False	0	False	5:10391791	0	T	10391791	G	T	10391791	3	4	88	1	0	0	0	0	1	0	0	0	9372	991	35	3	740	3	MARCH6	5	10391791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129991	10391791	170523469	5771	13483											
MARCH6	10299	broad.mit.edu	37	chr5	10426556	10426557	+	In_Frame_Ins	INS	-	-	TTA													ctatattgttcgtaaactggINScagctcccgtgatctctgtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10426556_10426557insTTA	ENST00000274140.5	+	24	2560_2561	c.2428_2429insTTA	c.(2428-2430)gca>gTTAca	p.810_810A>VT	MARCH6_ENST00000510792.1_In_Frame_Ins_p.508_508A>VT|MARCH6_ENST00000503788.1_In_Frame_Ins_p.705_705A>VT|MARCH6_ENST00000449913.2_In_Frame_Ins_p.762_762A>VT	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	810					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TCGTAAACTGGCAGCTCCCGTG	0.416													False	0	False	5:10426556	0	TTA	10426557	-	TTA	10426556	7	5	88	1	0	1	1	0	0	0	0	0	9372	1203	42	0	2522	0	MARCH6	5	10426556	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	34765	10426556	170488704	5772	13484	174	2									
MARCH6	10299	broad.mit.edu	37	chr5	10426557	10426558	+	Frame_Shift_Ins	INS	-	-	TTCTTCTAAAGTCA													tatattgttcgtaaactggcINSagctcccgtgatctctgtgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10426557_10426558insTTCTTCTAAAGTCA	ENST00000274140.5	+	24	2561_2562	c.2429_2430insTTCTTCTAAAGTCA	c.(2428-2433)gcagctfs	p.A811fs	MARCH6_ENST00000510792.1_Frame_Shift_Ins_p.A509fs|MARCH6_ENST00000503788.1_Frame_Shift_Ins_p.A706fs|MARCH6_ENST00000449913.2_Frame_Shift_Ins_p.A763fs	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	811					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CGTAAACTGGCAGCTCCCGTGA	0.421													False	0	False	5:10426557	0	TTCTTCTAAAGTCA	10426558	-	TTCTTCTAAAGTCA	10426557	7	5	88	1	0	1	1	0	0	0	0	0	9372	710	25	0	2523	0	MARCH6	5	10426557	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1	10426557	170488703	5773	13485	174	2									
CTNND2	1501	broad.mit.edu	37	chr5	11346613	11346613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctgtcggtaggggtccGcgtaattggaggctgggccg	19	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11346613G>A	ENST00000304623.8	-	9	1688	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	CTNND2_ENST00000458100.2_Missense_Mutation_p.A67V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A500V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A163V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A409V|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	500					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGGGGTCCGCGTAATTGGA	0.662													False	0	False	5:11346613	0	A	11346613	G	A	11346613	3	1	88	1	0	0	0	0	1	0	0	0	4045	1087	38	1	2234	1	CTNND2	5	11346613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	920056	11346613	169568647	5774	13486											
CTNND2	1501	broad.mit.edu	37	chr5	11384844	11384844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgagtgcttgctgtactgCtcggacgcgtggaccaggcg	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11384844C>T	ENST00000304623.8	-	7	1299	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000359640.2_Silent_p.E370E|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000511377.1_Silent_p.E279E|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	370					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCTGTACTGCTCGGACGCGT	0.672													False	0	False	5:11384844	0	T	11384844	C	T	11384844	2	4	88	1	0	0	0	0	0	0	0	1	4045	796	28	2		2	CTNND2	5	11384844	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38231	11384844	169530416	5775	13487											
CTNND2	1501	broad.mit.edu	37	chr5	11384997	11384997	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggccggccgaggacacgacGatgttgatgggcgagctggt	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11384997G>A	ENST00000304623.8	-	7	1146	c.957C>T	c.(955-957)atC>atT	p.I319I	CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000359640.2_Silent_p.I319I|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000511377.1_Silent_p.I228I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	319					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGGACACGACGATGTTGATGG	0.716													False	0	False	5:11384997	0	A	11384997	G	A	11384997	2	1	88	1	0	0	0	0	0	0	0	1	4045	1048	37	1		1	CTNND2	5	11384997	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153	11384997	169530263	5776	13488											
DNAH5	1767	broad.mit.edu	37	chr5	13700841	13700841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatgttcctcttgtcccagCcagcaccttcaagatataag	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13700841C>T	ENST00000265104.4	-	78	13735	c.13631G>A	c.(13630-13632)gGc>gAc	p.G4544D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4544					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGTCCCAGCCAGCACCTTC	0.428									Kartagener syndrome				False	0	True	5:13700841	0	T	13700841	C	T	13700841	3	4	88	1	0	0	0	0	1	0	0	0	4634	739	26	2	251	2	DNAH5	5	13700841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2315844	13700841	167214419	5777	13489											
DNAH5	1767	broad.mit.edu	37	chr5	13762877	13762877	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagaaaagaaggaagccataGctttcgtccaggaacaaaga	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13762877G>T	ENST00000265104.4	-	60	10339	c.10235C>A	c.(10234-10236)gCt>gAt	p.A3412D	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3412	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGAAGCCATAGCTTTCGTCCA	0.458									Kartagener syndrome				False	0	False	5:13762877	0	T	13762877	G	T	13762877	3	4	88	1	0	0	0	0	1	0	0	0	4634	971	34	3	3719	3	DNAH5	5	13762877	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62036	13762877	167152383	5778	13490											
DNAH5	1767	broad.mit.edu	37	chr5	13766267	13766267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaacgtgcgaacagtggCgatgtccgaaggcctgatgg	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13766267C>T	ENST00000265104.4	-	59	10023	c.9919G>A	c.(9919-9921)Gcc>Acc	p.A3307T	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3307	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A3307T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGAACAGTGGCGATGTCCGAA	0.522									Kartagener syndrome				False	0	False	5:13766267	0	T	13766267	C	T	13766267	3	4	88	1	0	0	0	0	1	0	0	0	4634	768	27	1	4039	1	DNAH5	5	13766267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3390	13766267	167148993	5779	13491											
TRIO	7204	broad.mit.edu	37	chr5	14336699	14336699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagaacagctggctcagActggggaatgtgaccccgaa	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14336699A>G	ENST00000344204.4	+	11	1933	c.1909A>G	c.(1909-1911)Act>Gct	p.T637A	TRIO_ENST00000537187.1_Missense_Mutation_p.T637A|TRIO_ENST00000509967.2_Missense_Mutation_p.T588A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	637					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTGGCTCAGACTGGGGAATG	0.483													False	0	False	5:14336699	0	G	14336699	A	G	14336699	3	3	88	1	0	0	0	0	1	0	0	0	16635	275	10	4	1951	4	TRIO	5	14336699	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	570432	14336699	166578561	5780	13492											
TRIO	7204	broad.mit.edu	37	chr5	14336786	14336786	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttcggcgtgttgagcagCgaaagatcctactggacatg	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14336786C>T	ENST00000344204.4	+	11	2020	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.R666*|TRIO_ENST00000509967.2_Nonsense_Mutation_p.R617*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	666					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGTTGAGCAGCGAAAGATCCT	0.498													False	0	False	5:14336786	0	T	14336786	C	T	14336786	4	4	88	1	0	0	0	0	0	1	0	0	16635	760	27	1	2038	1	TRIO	5	14336786	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	14336786	166578474	5781	13493											
TRIO	7204	broad.mit.edu	37	chr5	14369491	14369491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctcacaggtctgcagCgtcctcgagagcctggaaca	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14369491C>T	ENST00000344204.4	+	18	3099	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	TRIO_ENST00000537187.1_Silent_p.S1025S|TRIO_ENST00000509967.2_Silent_p.S976S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1025					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGGTCTGCAGCGTCCTCGAGA	0.587													False	0	False	5:14369491	0	T	14369491	C	T	14369491	2	4	88	1	0	0	0	0	0	0	0	1	16635	767	27	1		1	TRIO	5	14369491	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32705	14369491	166545769	5782	13494											
TRIO	7204	broad.mit.edu	37	chr5	14387901	14387901	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggctcagaggtgaaacttCgagatgctgctcatgaactt	11	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14387901C>T	ENST00000344204.4	+	23	3850	c.3826C>T	c.(3826-3828)Cga>Tga	p.R1276*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.R1276*|TRIO_ENST00000509967.2_Nonsense_Mutation_p.R1227*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1276					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGTGAAACTTCGAGATGCTGC	0.433													False	0	False	5:14387901	0	T	14387901	C	T	14387901	4	4	88	1	0	0	0	0	0	1	0	0	16635	876	31	1	3916	1	TRIO	5	14387901	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18410	14387901	166527359	5783	13495											
TRIO	7204	broad.mit.edu	37	chr5	14406776	14406776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagaacacgctggacagcGataaggtgagtcactgccgg	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14406776G>A	ENST00000344204.4	+	33	4978	c.4954G>A	c.(4954-4956)Gat>Aat	p.D1652N	TRIO_ENST00000537187.1_Missense_Mutation_p.D1652N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1652					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTGGACAGCGATAAGGTGAG	0.572													False	0	False	5:14406776	0	A	14406776	G	A	14406776	3	1	88	1	0	0	0	0	1	0	0	0	16635	1058	37	1	5084	1	TRIO	5	14406776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18875	14406776	166508484	5784	13496											
TRIO	7204	broad.mit.edu	37	chr5	14482807	14482807	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcttcctctttgagcagatCgtcatattcagcgaaccact	6	12	4	2	rs139448086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14482807C>T	ENST00000344204.4	+	46	6606	c.6582C>T	c.(6580-6582)atC>atT	p.I2194I	TRIO_ENST00000537187.1_Silent_p.I2194I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2194	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTGAGCAGATCGTCATATTCA	0.478													False	0	False	5:14482807	0	T	14482807	C	T	14482807	2	4	88	1	0	0	0	0	0	0	0	1	16635	874	31	1		1	TRIO	5	14482807	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76031	14482807	166432453	5785	13497											
TRIO	7204	broad.mit.edu	37	chr5	14485295	14485295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatctagtccaagtgtcCggcaaacttggatccatgaa	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14485295C>T	ENST00000344204.4	+	47	6799	c.6775C>T	c.(6775-6777)Cgg>Tgg	p.R2259W	TRIO_ENST00000537187.1_Missense_Mutation_p.R2259W	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2259	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCAAGTGTCCGGCAAACTTG	0.403													False	0	False	5:14485295	0	T	14485295	C	T	14485295	3	4	88	1	0	0	0	0	1	0	0	0	16635	643	23	1	6961	1	TRIO	5	14485295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2488	14485295	166429965	5786	13498											
TRIO	7204	broad.mit.edu	37	chr5	14485348	14485348	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaaaccagcgcaatttTttaaatggtaatgtgtgttc	8	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14485348T>G	ENST00000344204.4	+	47	6852	c.6828T>G	c.(6826-6828)ttT>ttG	p.F2276L	TRIO_ENST00000537187.1_Missense_Mutation_p.F2276L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2276					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGCGCAATTTTTTAAATGGTA	0.383													False	0	True	5:14485348	0	G	14485348	T	G	14485348	3	3	88	1	0	0	0	0	1	0	0	0	16635	1838	64	4	7014	4	TRIO	5	14485348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	53	14485348	166429912	5787	13499											
FAM105A	54491	broad.mit.edu	37	chr5	14601224	14601224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acatttatattcagggcacaAgctgaaatggtaggtcactg	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14601224A>G	ENST00000274217.3	+	2	335	c.215A>G	c.(214-216)aAg>aGg	p.K72R		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	72										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TCAGGGCACAAGCTGAAATGG	0.393													False	0	False	5:14601224	0	G	14601224	A	G	14601224	3	3	88	1	0	0	0	0	1	0	0	0	5423	72	3	4	221	4	FAM105A	5	14601224	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115876	14601224	166314036	5788	13500											
FAM105B	90268	broad.mit.edu	37	chr5	14692988	14692988	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgttccttcttgcctatgCtgtgcgccacaccatccagg	8	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14692988C>A	ENST00000284274.4	+	7	968	c.890C>A	c.(889-891)gCt>gAt	p.A297D		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	297										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					CTTGCCTATGCTGTGCGCCAC	0.507													False	0	False	5:14692988	0	A	14692988	C	A	14692988	3	1	88	1	0	0	0	0	1	0	0	0	5424	797	28	3	916	3	FAM105B	5	14692988	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91764	14692988	166222272	5789	13501											
FBXL7	23194	broad.mit.edu	37	chr5	15936593	15936593	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgcatcagcttgacccgGgaggcctccattaaactgtc	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:15936593G>T	ENST00000504595.1	+	4	1255	c.774G>T	c.(772-774)cgG>cgT	p.R258R	FBXL7_ENST00000329673.7_Silent_p.R246R|FBXL7_ENST00000510662.1_Silent_p.R211R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	258					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTTGACCCGGGAGGCCTCCA	0.577													False	0	True	5:15936593	0	T	15936593	G	T	15936593	2	4	88	1	0	0	0	0	0	0	0	1	5764	1219	43	3		3	FBXL7	5	15936593	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1243605	15936593	164978667	5790	13502											
FBXL7	23194	broad.mit.edu	37	chr5	15936764	15936764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccgcctgaccgacgaaggCctgcgctacctggtgatcta	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:15936764C>T	ENST00000504595.1	+	4	1426	c.945C>T	c.(943-945)ggC>ggT	p.G315G	FBXL7_ENST00000329673.7_Silent_p.G303G|FBXL7_ENST00000510662.1_Silent_p.G268G	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	315					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCGACGAAGGCCTGCGCTACC	0.667													False	0	False	5:15936764	0	T	15936764	C	T	15936764	2	4	88	1	0	0	0	0	0	0	0	1	5764	726	26	2		2	FBXL7	5	15936764	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171	15936764	164978496	5791	13503											
MARCH11	441061	broad.mit.edu	37	chr5	16177968	16177968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgaactgacccatcacatCggcaggggttcaacaactca	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16177968C>T	ENST00000332432.8	-	2	759	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	187						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CCCATCACATCGGCAGGGGTT	0.418													False	0	False	5:16177968	0	T	16177968	C	T	16177968	3	4	88	1	0	0	0	0	1	0	0	0	9367	884	31	1	660	1	MARCH11	5	16177968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241204	16177968	164737292	5792	13504											
MYO10	4651	broad.mit.edu	37	chr5	16668425	16668425	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctccctctcatcgaccacGatcttatacgtattcgccag	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16668425G>A	ENST00000513610.1	-	40	6490	c.6036C>T	c.(6034-6036)atC>atT	p.I2012I	MYO10_ENST00000274203.9_Silent_p.I1369I|MYO10_ENST00000515803.1_Silent_p.I1351I|MYO10_ENST00000427430.2_Silent_p.I1369I|MYO10_ENST00000505695.1_Silent_p.I1351I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	2012	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.I2012I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CATCGACCACGATCTTATACG	0.478													False	0	False	5:16668425	0	A	16668425	G	A	16668425	2	1	88	1	0	0	0	0	0	0	0	1	10129	1048	37	1		1	MYO10	5	16668425	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	490457	16668425	164246835	5793	13505											
MYO10	4651	broad.mit.edu	37	chr5	16671030	16671030	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggagtcgcagggcagcaaGaacctggaggttttcttccg	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16671030G>T	ENST00000513610.1	-	39	5942	c.5488C>A	c.(5488-5490)Ctt>Att	p.L1830I	MYO10_ENST00000274203.9_Missense_Mutation_p.L1187I|MYO10_ENST00000515803.1_Missense_Mutation_p.L1169I|MYO10_ENST00000427430.2_Missense_Mutation_p.L1187I|MYO10_ENST00000505695.1_Missense_Mutation_p.L1169I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1830	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGGCAGCAAGAACCTGGAGG	0.572													False	0	False	5:16671030	0	T	16671030	G	T	16671030	3	4	88	1	0	0	0	0	1	0	0	0	10129	942	33	3	700	3	MYO10	5	16671030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2605	16671030	164244230	5794	13506											
MYO10	4651	broad.mit.edu	37	chr5	16673839	16673839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatcttgcaggagccgccGccatggcaatagaccgtgga	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16673839G>A	ENST00000513610.1	-	36	5578	c.5124C>T	c.(5122-5124)ggC>ggT	p.G1708G	MYO10_ENST00000274203.9_Silent_p.G1065G|MYO10_ENST00000515803.1_Silent_p.G1047G|MYO10_ENST00000427430.2_Silent_p.G1065G|MYO10_ENST00000505695.1_Silent_p.G1047G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1708	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGAGCCGCCGCCATGGCAAT	0.527													False	0	True	5:16673839	0	A	16673839	G	A	16673839	2	1	88	1	0	0	0	0	0	0	0	1	10129	1074	38	1		1	MYO10	5	16673839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2809	16673839	164241421	5795	13507											
MYO10	4651	broad.mit.edu	37	chr5	16689992	16689992	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatcggccataatgatgtcGatcccattctccttggtggt	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16689992G>A	ENST00000513610.1	-	28	4291	c.3837C>T	c.(3835-3837)atC>atT	p.I1279I	MYO10_ENST00000274203.9_Silent_p.I636I|MYO10_ENST00000515803.1_Silent_p.I618I|MYO10_ENST00000427430.2_Silent_p.I636I|MYO10_ENST00000505695.1_Silent_p.I618I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1279	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TAATGATGTCGATCCCATTCT	0.463													False	0	False	5:16689992	0	A	16689992	G	A	16689992	2	1	88	1	0	0	0	0	0	0	0	1	10129	1048	37	1		1	MYO10	5	16689992	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16153	16689992	164225268	5796	13508											
MYO10	4651	broad.mit.edu	37	chr5	16694613	16694613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtggaggagcccccccCttttttgtggagccagcctt	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16694613C>T	ENST00000513610.1	-	27	4121	c.3667G>A	c.(3667-3669)Ggg>Agg	p.G1223R	MYO10_ENST00000274203.9_Missense_Mutation_p.G580R|MYO10_ENST00000515803.1_Missense_Mutation_p.G562R|MYO10_ENST00000427430.2_Missense_Mutation_p.G580R|MYO10_ENST00000505695.1_Missense_Mutation_p.G562R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1223	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.G1223R(5)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GAGCCCCCCCCTTTTTTGTGG	0.557													False	0	True	5:16694613	0	T	16694613	C	T	16694613	3	4	88	1	0	0	0	0	1	0	0	0	10129	681	24	2	2569	2	MYO10	5	16694613	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4621	16694613	164220647	5797	13509											
MYO10	4651	broad.mit.edu	37	chr5	16701471	16701471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctgagtggccgtgctcGctggggttgggggagtcctt	19	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16701471G>A	ENST00000513610.1	-	25	3487	c.3033C>T	c.(3031-3033)agC>agT	p.S1011S	MYO10_ENST00000274203.9_Silent_p.S368S|MYO10_ENST00000515803.1_Silent_p.S350S|MYO10_ENST00000427430.2_Silent_p.S368S|MYO10_ENST00000505695.1_Silent_p.S350S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1011					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGCCGTGCTCGCTGGGGTTGG	0.612													False	0	False	5:16701471	0	A	16701471	G	A	16701471	2	1	88	1	0	0	0	0	0	0	0	1	10129	1078	38	1		1	MYO10	5	16701471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6858	16701471	164213789	5798	13510											
MYO10	4651	broad.mit.edu	37	chr5	16766233	16766233	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctcttctcccctgaggaAcattgatctctgggtcaaag	9	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16766233A>G	ENST00000513610.1	-	11	1589	c.1135T>C	c.(1135-1137)Ttc>Ctc	p.F379L		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	379	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCCCTGAGGAACATTGATCTC	0.488													False	0	False	5:16766233	0	G	16766233	A	G	16766233	3	3	88	1	0	0	0	0	1	0	0	0	10129	43	2	4	5165	4	MYO10	5	16766233	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64762	16766233	164149027	5799	13511											
BASP1	10409	broad.mit.edu	37	chr5	17275470	17275470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggcggccgcagagcccGccgaggccaaggagggcaag	17	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:17275470G>A	ENST00000322611.3	+	2	405	c.145G>A	c.(145-147)Gcc>Acc	p.A49T		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	49					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CGCAGAGCCCGCCGAGGCCAA	0.697													False	0	True	5:17275470	0	A	17275470	G	A	17275470	3	1	88	1	0	0	0	0	1	0	0	0	1321	1087	38	1	147	1	BASP1	5	17275470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	509237	17275470	163639790	5800	13512											
CDH18	1016	broad.mit.edu	37	chr5	19483440	19483440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaacacagagaagaatagCgattaaggctcctgtactca	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19483440C>T	ENST00000507958.1	-	14	2842	c.1852G>A	c.(1852-1854)Gct>Act	p.A618T	CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.A618T|CDH18_ENST00000274170.4_Missense_Mutation_p.A618T			Q13634	CAD18_HUMAN	cadherin 18, type 2	618					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGAAGAATAGCGATTAAGGCT	0.478													False	0	False	5:19483440	0	T	19483440	C	T	19483440	3	4	88	1	0	0	0	0	1	0	0	0	3126	768	27	1	528	1	CDH18	5	19483440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2207970	19483440	161431820	5801	13513											
CDH18	1016	broad.mit.edu	37	chr5	19544089	19544089	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgttgaaaaatctgtcgtCttcaacattgtagttgatga	8	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19544089C>T	ENST00000507958.1	-	11	2269	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	CDH18_ENST00000502796.1_Missense_Mutation_p.D427N|CDH18_ENST00000506372.1_Missense_Mutation_p.D427N|CDH18_ENST00000511273.1_Missense_Mutation_p.D427N|CDH18_ENST00000382275.1_Missense_Mutation_p.D427N|CDH18_ENST00000274170.4_Missense_Mutation_p.D427N			Q13634	CAD18_HUMAN	cadherin 18, type 2	427	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AATCTGTCGTCTTCAACATTG	0.348													False	0	False	5:19544089	0	T	19544089	C	T	19544089	3	4	88	1	0	0	0	0	1	0	0	0	3126	913	32	2	1113	2	CDH18	5	19544089	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60649	19544089	161371171	5802	13514											
CDH18	1016	broad.mit.edu	37	chr5	19612635	19612635	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacttgcccagccatgTctttggcttgaatgactacg	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19612635T>G	ENST00000507958.1	-	8	1709	c.719A>C	c.(718-720)gAc>gCc	p.D240A	CDH18_ENST00000502796.1_Missense_Mutation_p.D240A|CDH18_ENST00000506372.1_Missense_Mutation_p.D240A|CDH18_ENST00000511273.1_Missense_Mutation_p.D240A|CDH18_ENST00000382275.1_Missense_Mutation_p.D240A|CDH18_ENST00000274170.4_Missense_Mutation_p.D240A			Q13634	CAD18_HUMAN	cadherin 18, type 2	240	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCAGCCATGTCTTTGGCTTG	0.418													False	0	False	5:19612635	0	G	19612635	T	G	19612635	3	3	88	1	0	0	0	0	1	0	0	0	3126	1667	58	4	1685	4	CDH18	5	19612635	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	68546	19612635	161302625	5803	13515											
CDH12	1010	broad.mit.edu	37	chr5	21755864	21755864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctctggacagggtagctgCtgtcttctattacaacaggg	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:21755864C>A	ENST00000382254.1	-	14	2807	c.1721G>T	c.(1720-1722)aGc>aTc	p.S574I	CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.S574I|CDH12_ENST00000522262.1_Missense_Mutation_p.S534I	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	574	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGGGTAGCTGCTGTCTTCTAT	0.453										HNSCC(59;0.17)			False	0	False	5:21755864	0	A	21755864	C	A	21755864	3	1	88	1	0	0	0	0	1	0	0	0	3121	797	28	3	671	3	CDH12	5	21755864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2143229	21755864	159159396	5804	13516											
CDH12	1010	broad.mit.edu	37	chr5	22078698	22078698	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggctctgtggctaaagTctgctgtggctgtggttgta	14	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:22078698T>G	ENST00000382254.1	-	5	1174	c.88A>C	c.(88-90)Act>Cct	p.T30P	CDH12_ENST00000504376.2_Missense_Mutation_p.T30P|CDH12_ENST00000522262.1_Missense_Mutation_p.T30P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	30					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTGGCTAAAGTCTGCTGTGGC	0.453										HNSCC(59;0.17)			False	0	False	5:22078698	0	G	22078698	T	G	22078698	3	3	88	1	0	0	0	0	1	0	0	0	3121	1667	58	4	2340	4	CDH12	5	22078698	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	322834	22078698	158836562	5805	13517											
PRDM9	56979	broad.mit.edu	37	chr5	23509692	23509692	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaaggaactataatgcactGattactataggtaacaggaa	8	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23509692G>A	ENST00000296682.3	+	3	365	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	61	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATAATGCACTGATTACTATAG	0.433										HNSCC(3;0.000094)			False	0	False	5:23509692	0	A	23509692	G	A	23509692	2	1	88	1	0	0	0	0	0	0	0	1	12539	1277	45	2		2	PRDM9	5	23509692	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1430994	23509692	157405568	5806	13518											
PRDM9	56979	broad.mit.edu	37	chr5	23522454	23522454	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaagatgtatagcctgCgagaaagaaagggtcatgca	12	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23522454C>T	ENST00000296682.3	+	7	732	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTATAGCCTGCGAGAAAGAAA	0.458										HNSCC(3;0.000094)			False	0	False	5:23522454	0	T	23522454	C	T	23522454	4	4	88	1	0	0	0	0	0	1	0	0	12539	760	27	1	572	1	PRDM9	5	23522454	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12762	23522454	157392806	5807	13519											
PRDM9	56979	broad.mit.edu	37	chr5	23522797	23522797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacatttgtaaaggacagtGcagtggacaaggggcacccc	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23522797G>A	ENST00000296682.3	+	8	867	c.685G>A	c.(685-687)Gca>Aca	p.A229T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	229					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGGACAGTGCAGTGGACAA	0.552										HNSCC(3;0.000094)			False	0	True	5:23522797	0	A	23522797	G	A	23522797	3	1	88	1	0	0	0	0	1	0	0	0	12539	1319	46	2	711	2	PRDM9	5	23522797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343	23522797	157392463	5808	13520											
PRDM9	56979	broad.mit.edu	37	chr5	23526654	23526654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccaaaggacaaatggggaGctgtagagtgggaaaaagaa	14	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23526654G>T	ENST00000296682.3	+	11	1639	c.1457G>T	c.(1456-1458)aGc>aTc	p.S486I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	486					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAAATGGGGAGCTGTAGAGTG	0.453										HNSCC(3;0.000094)			False	0	False	5:23526654	0	T	23526654	G	T	23526654	3	4	88	1	0	0	0	0	1	0	0	0	12539	971	34	3	1495	3	PRDM9	5	23526654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3857	23526654	157388606	5809	13521											
CDH10	1008	broad.mit.edu	37	chr5	24487856	24487856	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattctcggaggtaatcgtaGttttggtctccttcagtagt	10	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24487856G>T	ENST00000264463.4	-	12	2790	c.2283C>A	c.(2281-2283)aaC>aaA	p.N761K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	761					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGTAATCGTAGTTTTGGTCTC	0.438										HNSCC(23;0.051)			False	0	True	5:24487856	0	T	24487856	G	T	24487856	3	4	88	1	0	0	0	0	1	0	0	0	3119	1020	36	3	87	3	CDH10	5	24487856	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	961202	24487856	156427404	5810	13522											
CDH10	1008	broad.mit.edu	37	chr5	24488103	24488103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttttttcctcaatggctGcaggattcctcagggtgccg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24488103G>A	ENST00000264463.4	-	12	2543	c.2036C>T	c.(2035-2037)gCa>gTa	p.A679V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	679					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCAATGGCTGCAGGATTCCT	0.483										HNSCC(23;0.051)			False	0	False	5:24488103	0	A	24488103	G	A	24488103	3	1	88	1	0	0	0	0	1	0	0	0	3119	1319	46	2	334	2	CDH10	5	24488103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247	24488103	156427157	5811	13523											
CDH10	1008	broad.mit.edu	37	chr5	24509737	24509737	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccaatgattgtgcccacTtcaatatcttcatgaacttc	5	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24509737T>G	ENST00000264463.4	-	7	1701	c.1194A>C	c.(1192-1194)gaA>gaC	p.E398D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	398	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTGTGCCCACTTCAATATCTT	0.403										HNSCC(23;0.051)			False	0	False	5:24509737	0	G	24509737	T	G	24509737	3	3	88	1	0	0	0	0	1	0	0	0	3119	1606	56	4	1196	4	CDH10	5	24509737	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21634	24509737	156405523	5812	13524											
CDH10	1008	broad.mit.edu	37	chr5	24535872	24535872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgctgtaaatgactctggCgctgttcccatatgaagggt	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24535872C>T	ENST00000264463.4	-	4	1093	c.586G>A	c.(586-588)Gcc>Acc	p.A196T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	196	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A196P(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATGACTCTGGCGCTGTTCCCA	0.453										HNSCC(23;0.051)			False	0	False	5:24535872	0	T	24535872	C	T	24535872	3	4	88	1	0	0	0	0	1	0	0	0	3119	768	27	1	1816	1	CDH10	5	24535872	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26135	24535872	156379388	5813	13525											
CDH9	1007	broad.mit.edu	37	chr5	26902639	26902639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaacctgtccaatgataCtgccctcctttacatcttca	4	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26902639C>T	ENST00000231021.4	-	7	1371	c.1199G>A	c.(1198-1200)aGt>aAt	p.S400N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	400	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCCAATGATACTGCCCTCCTT	0.338													False	0	False	5:26902639	0	T	26902639	C	T	26902639	3	4	88	1	0	0	0	0	1	0	0	0	3140	565	20	2	1194	2	CDH9	5	26902639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2366767	26902639	154012621	5814	13526											
CDH9	1007	broad.mit.edu	37	chr5	26903822	26903822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgcaccatctccttcaGcaatgctatactccatttct	4	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26903822G>A	ENST00000231021.4	-	6	1095	c.923C>T	c.(922-924)gCt>gTt	p.A308V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	308	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCTCCTTCAGCAATGCTATA	0.423													False	0	False	5:26903822	0	A	26903822	G	A	26903822	3	1	88	1	0	0	0	0	1	0	0	0	3140	971	34	2	1474	2	CDH9	5	26903822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1183	26903822	154011438	5815	13527											
CDH9	1007	broad.mit.edu	37	chr5	26915978	26915978	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaatagactgccagccccatCtcctgttagtatgtatttta	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26915978C>T	ENST00000231021.4	-	3	455	c.283G>A	c.(283-285)Gat>Aat	p.D95N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	95	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCAGCCCCATCTCCTGTTAGT	0.353													False	0	False	5:26915978	0	T	26915978	C	T	26915978	3	4	88	1	0	0	0	0	1	0	0	0	3140	913	32	2	2126	2	CDH9	5	26915978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12156	26915978	153999282	5816	13528											
CDH6	1004	broad.mit.edu	37	chr5	31297423	31297423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtccaagtcactgcgaCggatgcagatgatccaacat	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31297423C>T	ENST00000265071.2	+	4	816	c.551C>T	c.(550-552)aCg>aTg	p.T184M	CDH6_ENST00000514738.1_Missense_Mutation_p.T129M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	184	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTCACTGCGACGGATGCAGAT	0.393													False	0	False	5:31297423	0	T	31297423	C	T	31297423	3	4	88	1	0	0	0	0	1	0	0	0	3137	536	19	1	561	1	CDH6	5	31297423	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4381445	31297423	149617837	5817	13529											
CDH6	1004	broad.mit.edu	37	chr5	31316320	31316320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggtttgtgacagataatCcaaagcaaagtagtcgagta	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31316320C>T	ENST00000265071.2	+	9	1661	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	CDH6_ENST00000514738.1_Missense_Mutation_p.P411S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	466	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACAGATAATCCAAAGCAAAG	0.368													False	0	True	5:31316320	0	T	31316320	C	T	31316320	3	4	88	1	0	0	0	0	1	0	0	0	3137	855	30	2	1426	2	CDH6	5	31316320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18897	31316320	149598940	5818	13530											
PDZD2	23037	broad.mit.edu	37	chr5	32087337	32087337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacagggcaagtcagtcgGccagagaatcccagccagcc	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32087337G>A	ENST00000438447.1	+	20	4171	c.3783G>A	c.(3781-3783)cgG>cgA	p.R1261R	PDZD2_ENST00000282493.3_Silent_p.R1261R			O15018	PDZD2_HUMAN	PDZ domain containing 2	1261					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGTCAGTCGGCCAGAGAATC	0.637													False	0	False	5:32087337	0	A	32087337	G	A	32087337	2	1	88	1	0	0	0	0	0	0	0	1	11769	1190	42	2		2	PDZD2	5	32087337	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	771017	32087337	148827923	5819	13531											
PDZD2	23037	broad.mit.edu	37	chr5	32088716	32088716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggcattttcacagtcCgcccatcattctcagctccc	6	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32088716C>T	ENST00000438447.1	+	20	5550	c.5162C>T	c.(5161-5163)cCg>cTg	p.P1721L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1721L			O15018	PDZD2_HUMAN	PDZ domain containing 2	1721					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTTCACAGTCCGCCCATCATT	0.498													False	0	False	5:32088716	0	T	32088716	C	T	32088716	3	4	88	1	0	0	0	0	1	0	0	0	11769	652	23	1	5236	1	PDZD2	5	32088716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1379	32088716	148826544	5820	13532											
GOLPH3	64083	broad.mit.edu	37	chr5	32126345	32126345	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacgccgccaccaccgcCcacagaacctcattggtgtt	9	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32126345C>T	ENST00000265070.6	-	4	1185	c.870G>A	c.(868-870)tgG>tgA	p.W290*		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	290					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CCACCACCGCCCACAGAACCT	0.498													False	0	True	5:32126345	0	T	32126345	C	T	32126345	4	4	88	1	0	0	0	0	0	1	0	0	6613	624	22	2	30	2	GOLPH3	5	32126345	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37629	32126345	148788915	5821	13533											
GOLPH3	64083	broad.mit.edu	37	chr5	32126532	32126532	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtccatgcggtgagggTcattcacccatttgtcaaga	11	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32126532T>G	ENST00000265070.6	-	4	998	c.683A>C	c.(682-684)gAc>gCc	p.D228A		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	228					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GCGGTGAGGGTCATTCACCCA	0.502													False	0	True	5:32126532	0	G	32126532	T	G	32126532	3	3	88	1	0	0	0	0	1	0	0	0	6613	1667	58	4	217	4	GOLPH3	5	32126532	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	187	32126532	148788728	5822	13534											
MTMR12	54545	broad.mit.edu	37	chr5	32230272	32230272	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccatggtagtcagtggacTtgctatgccagctgtcatag	11	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32230272T>G	ENST00000382142.3	-	16	2026	c.1856A>C	c.(1855-1857)aAg>aCg	p.K619T	MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000280285.5_Missense_Mutation_p.K565T|MTMR12_ENST00000264934.5_Missense_Mutation_p.K509T	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	619	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTCAGTGGACTTGCTATGCCA	0.448													False	0	False	5:32230272	0	G	32230272	T	G	32230272	3	3	88	1	0	0	0	0	1	0	0	0	10008	1609	56	4	391	4	MTMR12	5	32230272	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	103740	32230272	148684988	5823	13535											
ZFR	51663	broad.mit.edu	37	chr5	32387723	32387723	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtttctctgagcacaGcaaaacaaggttgacatttc	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32387723G>A	ENST00000265069.8	-	14	2533	c.2431C>T	c.(2431-2433)Ctg>Ttg	p.L811L		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	811	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCTGAGCACAGCAAAACAAGG	0.383													False	0	False	5:32387723	0	A	32387723	G	A	32387723	2	1	88	1	0	0	0	0	0	0	0	1	17742	962	34	2		2	ZFR	5	32387723	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157451	32387723	148527537	5824	13536											
NPR3	4883	broad.mit.edu	37	chr5	32712326	32712326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtggcccggcttgcatcGcactgggacctgcccatgct	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32712326G>A	ENST00000265074.8	+	1	787	c.444G>A	c.(442-444)tcG>tcA	p.S148S	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Silent_p.S148S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	148					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGCTTGCATCGCACTGGGACC	0.706													False	0	False	5:32712326	0	A	32712326	G	A	32712326	2	1	88	1	0	0	0	0	0	0	0	1	10664	1074	38	1		1	NPR3	5	32712326	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	324603	32712326	148202934	5825	13537											
NPR3	4883	broad.mit.edu	37	chr5	32739076	32739076	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagtgaaacctgagtttgaGaagttttccatggaggtgaa	12	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32739076G>T	ENST00000265074.8	+	3	1342	c.999G>T	c.(997-999)gaG>gaT	p.E333D	NPR3_ENST00000434067.2_Missense_Mutation_p.E117D|NPR3_ENST00000415685.2_Missense_Mutation_p.E117D|NPR3_ENST00000415167.2_Missense_Mutation_p.E333D	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	333					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGAGTTTGAGAAGTTTTCCA	0.453													False	0	False	5:32739076	0	T	32739076	G	T	32739076	3	4	88	1	0	0	0	0	1	0	0	0	10664	933	33	3	1009	3	NPR3	5	32739076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26750	32739076	148176184	5826	13538											
TARS	6897	broad.mit.edu	37	chr5	33461024	33461024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccttatgtttgatcatcGgccaaggtcctggcgagaac	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33461024G>A	ENST00000265112.3	+	12	1579	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q	TARS_ENST00000502553.1_Missense_Mutation_p.R423Q|TARS_ENST00000541634.1_Missense_Mutation_p.R319Q|TARS_ENST00000414361.2_Missense_Mutation_p.R302Q|TARS_ENST00000455217.2_Missense_Mutation_p.R456Q	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	423					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTTGATCATCGGCCAAGGTCC	0.463													False	0	False	5:33461024	0	A	33461024	G	A	33461024	3	1	88	1	0	0	0	0	1	0	0	0	15641	1116	39	1	1314	1	TARS	5	33461024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	721948	33461024	147454236	5827	13539											
ADAMTS12	81792	broad.mit.edu	37	chr5	33527365	33527365	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgatgtgtgtctggggAcacgagaagcagcactcagc	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33527365A>G	ENST00000504830.1	-	24	5048	c.4713T>C	c.(4711-4713)tgT>tgC	p.C1571C	ADAMTS12_ENST00000352040.3_Silent_p.C1486C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1571	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTGTCTGGGGACACGAGAAGC	0.502										HNSCC(64;0.19)			False	0	True	5:33527365	0	G	33527365	A	G	33527365	2	3	88	1	0	0	0	0	0	0	0	1	257	273	10	4		4	ADAMTS12	5	33527365	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66341	33527365	147387895	5828	13540											
ADAMTS12	81792	broad.mit.edu	37	chr5	33527431	33527431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatggctttcagtgtctgGcagaaactggctgacagttt	11	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33527431G>A	ENST00000504830.1	-	24	4982	c.4647C>T	c.(4645-4647)tgC>tgT	p.C1549C	ADAMTS12_ENST00000352040.3_Silent_p.C1464C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1549	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCAGTGTCTGGCAGAAACTGG	0.443										HNSCC(64;0.19)			False	0	False	5:33527431	0	A	33527431	G	A	33527431	2	1	88	1	0	0	0	0	0	0	0	1	257	1195	42	2		2	ADAMTS12	5	33527431	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66	33527431	147387829	5829	13541											
ADAMTS12	81792	broad.mit.edu	37	chr5	33614342	33614342	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagagcagctgtttctcaCctgtcccgcaggtcacactg	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33614342C>T	ENST00000504830.1	-	16	2863		c.e16+1		ADAMTS12_ENST00000504582.1_Splice_Site|ADAMTS12_ENST00000352040.3_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGTTTCTCACCTGTCCCGCA	0.507										HNSCC(64;0.19)			False	0	False	5:33614342	0	T	33614342	C	T	33614342	5	4	88	1	0	0	0	0	0	0	1	0	257	521	18	2	2292	2	ADAMTS12	5	33614342	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86911	33614342	147300918	5830	13542											
ADAMTS12	81792	broad.mit.edu	37	chr5	33615950	33615950	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacctggatccacacagactCattggtgggacctgtggcca	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33615950C>T	ENST00000504830.1	-	15	2706	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E706K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	791	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACACAGACTCATTGGTGGGA	0.483										HNSCC(64;0.19)			False	0	False	5:33615950	0	T	33615950	C	T	33615950	3	4	88	1	0	0	0	0	1	0	0	0	257	835	29	2	2453	2	ADAMTS12	5	33615950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1608	33615950	147299310	5831	13543											
ADAMTS12	81792	broad.mit.edu	37	chr5	33641986	33641986	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaacagtgggaccagggTgaccagcggccccagcctcc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33641986T>C	ENST00000504830.1	-	11	1982	c.1647A>G	c.(1645-1647)tcA>tcG	p.S549S	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.S549S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	549	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGACCAGGGTGACCAGCGGC	0.572										HNSCC(64;0.19)			False	0	True	5:33641986	0	C	33641986	T	C	33641986	2	2	88	1	0	0	0	0	0	0	0	1	257	1683	59	4		4	ADAMTS12	5	33641986	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26036	33641986	147273274	5832	13544											
ADAMTS12	81792	broad.mit.edu	37	chr5	33649745	33649745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggcgggacatgatgtaCggatgtctgcccacaggctc	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33649745C>T	ENST00000504830.1	-	8	1583	c.1248G>A	c.(1246-1248)ccG>ccA	p.P416P	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.P416P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	416	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACATGATGTACGGATGTCTGC	0.557										HNSCC(64;0.19)			False	0	False	5:33649745	0	T	33649745	C	T	33649745	2	4	88	1	0	0	0	0	0	0	0	1	257	523	19	1		1	ADAMTS12	5	33649745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7759	33649745	147265515	5833	13545											
RXFP3	51289	broad.mit.edu	37	chr5	33937494	33937494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcttctcggccaaggcgCtgtgtgtgtggatctgggct	16	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33937494C>T	ENST00000330120.3	+	1	1004	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	217						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGCCAAGGCGCTGTGTGTGTG	0.692													False	0	True	5:33937494	0	T	33937494	C	T	33937494	2	4	88	1	0	0	0	0	0	0	0	1	13840	796	28	2		2	RXFP3	5	33937494	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287749	33937494	146977766	5834	13546											
RXFP3	51289	broad.mit.edu	37	chr5	33938247	33938247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgctgcccagcagctctGcctactgacgcaggcctcag	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33938247G>A	ENST00000330120.3	+	1	1757	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	468						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CAGCAGCTCTGCCTACTGACG	0.726													False	0	False	5:33938247	0	A	33938247	G	A	33938247	3	1	88	1	0	0	0	0	1	0	0	0	13840	1319	46	2	1404	2	RXFP3	5	33938247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	753	33938247	146977013	5835	13547											
SLC45A2	51151	broad.mit.edu	37	chr5	33944779	33944779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatatctaacaaagagagCgacaaagcaacagcctatca	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33944779C>T	ENST00000296589.4	-	7	1713	c.1567G>A	c.(1567-1569)Gct>Act	p.A523T	SLC45A2_ENST00000342059.3_Missense_Mutation_p.A464T	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	523					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACAAAGAGAGCGACAAAGCAA	0.512													False	0	True	5:33944779	0	T	33944779	C	T	33944779	3	4	88	1	0	0	0	0	1	0	0	0	14721	768	27	1	29	1	SLC45A2	5	33944779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6532	33944779	146970481	5836	13548											
AMACR	23600	broad.mit.edu	37	chr5	33989288	33989288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatccaaattcttcaagTatctcctcagtgtgttctcc	5	12	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33989288T>C	ENST00000335606.6	-	5	1147	c.1059A>G	c.(1057-1059)atA>atG	p.I353M	AMACR_ENST00000502637.1_Missense_Mutation_p.I338M|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382072.2_3'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.I353M	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	353					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						ATTCTTCAAGTATCTCCTCAG	0.453													False	0	False	5:33989288	0	C	33989288	T	C	33989288	3	2	88	1	0	0	0	0	1	0	0	0	562	1628	57	4	151	4	AMACR	5	33989288	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44509	33989288	146925972	5837	13549											
RAI14	26064	broad.mit.edu	37	chr5	34803869	34803869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agccaccatgaatgcatcagGaagctgcttcaggtaagctg	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34803869G>T	ENST00000265109.3	+	5	596	c.309G>T	c.(307-309)agG>agT	p.R103S	RAI14_ENST00000506376.1_Missense_Mutation_p.R95S|RAI14_ENST00000515799.1_Missense_Mutation_p.R106S|RAI14_ENST00000503673.1_Missense_Mutation_p.R103S|RAI14_ENST00000512629.1_Missense_Mutation_p.R103S|RAI14_ENST00000397449.1_Missense_Mutation_p.R96S|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000428746.2_Missense_Mutation_p.R103S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	103						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AATGCATCAGGAAGCTGCTTC	0.368													False	0	False	5:34803869	0	T	34803869	G	T	34803869	3	4	88	1	0	0	0	0	1	0	0	0	13087	1165	41	3	388	3	RAI14	5	34803869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	814581	34803869	146111391	5838	13550											
RAI14	26064	broad.mit.edu	37	chr5	34823310	34823310	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcagagagaaaacagCtacaggtcgaactccaatcc	9	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34823310C>A	ENST00000265109.3	+	15	1650	c.1363C>A	c.(1363-1365)Cta>Ata	p.L455I	RAI14_ENST00000506376.1_Missense_Mutation_p.L447I|RAI14_ENST00000515799.1_Missense_Mutation_p.L458I|RAI14_ENST00000503673.1_Missense_Mutation_p.L455I|RAI14_ENST00000512629.1_Missense_Mutation_p.L426I|RAI14_ENST00000397449.1_Missense_Mutation_p.L448I|RAI14_ENST00000428746.2_Missense_Mutation_p.L455I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	455						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAGAAAACAGCTACAGGTCGA	0.423													False	0	False	5:34823310	0	A	34823310	C	A	34823310	3	1	88	1	0	0	0	0	1	0	0	0	13087	796	28	3	1482	3	RAI14	5	34823310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19441	34823310	146091950	5839	13551											
RAI14	26064	broad.mit.edu	37	chr5	34824489	34824489	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttgaaatccaaagagcaaGaagtaaatgaacttctgcaa	7	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34824489G>T	ENST00000265109.3	+	15	2829	c.2542G>T	c.(2542-2544)Gaa>Taa	p.E848*	RAI14_ENST00000506376.1_Nonsense_Mutation_p.E840*|RAI14_ENST00000515799.1_Nonsense_Mutation_p.E851*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.E848*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.E819*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.E841*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.E848*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	848						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CAAAGAGCAAGAAGTAAATGA	0.393													False	0	False	5:34824489	0	T	34824489	G	T	34824489	4	4	88	1	0	0	0	0	0	1	0	0	13087	943	33	3	2661	3	RAI14	5	34824489	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1179	34824489	146090771	5840	13552											
DNAJC21	134218	broad.mit.edu	37	chr5	34949740	34949740	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggagagagaagagatggagaGagcgagcacaaatgtgccaa	16	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34949740G>A	ENST00000382021.2	+	10	1505	c.1278G>A	c.(1276-1278)gaG>gaA	p.E426E	DNAJC21_ENST00000303525.7_Intron|DNAJC21_ENST00000342382.4_Intron|DNAJC21_ENST00000512136.1_Intron	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	395					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			gagatggagagagcgagcaca	0.438													False	0	True	5:34949740	0	A	34949740	G	A	34949740	2	1	88	1	0	0	0	0	0	0	0	1	4670	933	33	2		2	DNAJC21	5	34949740	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125251	34949740	145965520	5841	13553											
AGXT2	64902	broad.mit.edu	37	chr5	35026586	35026586	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcgtatctttgaattgctCaatatactgatctttagctt	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35026586C>T	ENST00000231420.6	-	8	999	c.799G>A	c.(799-801)Gag>Aag	p.E267K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	267					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TTGAATTGCTCAATATACTGA	0.378													False	0	False	5:35026586	0	T	35026586	C	T	35026586	3	4	88	1	0	0	0	0	1	0	0	0	405	835	29	2	773	2	AGXT2	5	35026586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76846	35026586	145888674	5842	13554											
PRLR	5618	broad.mit.edu	37	chr5	35065420	35065420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgaccccggacaccttgGcatactccttattgttctca	6	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35065420G>T	ENST00000382002.5	-	10	2066	c.1640C>A	c.(1639-1641)gCc>gAc	p.A547D	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.A446D|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000511486.1_Missense_Mutation_p.A446D|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	547					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGACACCTTGGCATACTCCTT	0.493													False	0	False	5:35065420	0	T	35065420	G	T	35065420	3	4	88	1	0	0	0	0	1	0	0	0	12607	1203	42	3	232	3	PRLR	5	35065420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38834	35065420	145849840	5843	13555											
PRLR	5618	broad.mit.edu	37	chr5	35065452	35065452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttctcaggagtcccgggCttcttgggcttgccgctgtt	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35065452C>T	ENST00000310101.5	-	9	1035	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000342362.5_Silent_p.K435K|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000382002.5_Silent_p.K536K|PRLR_ENST00000511486.1_Silent_p.K435K|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron	NM_001204315.1	NP_001191244.1	P16471	PRLR_HUMAN	prolactin receptor	0					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GAGTCCCGGGCTTCTTGGGCT	0.488													False	0	True	5:35065452	0	T	35065452	C	T	35065452	3	4	88	1	0	0	0	0	1	0	0	0	12607	796	28	2	264	2	PRLR	5	35065452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32	35065452	145849808	5844	13556											
PRLR	5618	broad.mit.edu	37	chr5	35068880	35068880	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgagagacagtgaagtaCctatagcccttcaaagccac	9	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35068880C>T	ENST00000382002.5	-	8	1212		c.e8+1		PRLR_ENST00000513753.1_Splice_Site|PRLR_ENST00000342362.5_Splice_Site|PRLR_ENST00000542609.1_Splice_Site|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Splice_Site|PRLR_ENST00000509934.1_Intron|PRLR_ENST00000511486.1_Splice_Site|PRLR_ENST00000231423.3_Splice_Site|PRLR_ENST00000348262.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor						activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGTGAAGTACCTATAGCCCT	0.398													False	0	False	5:35068880	0	T	35068880	C	T	35068880	5	4	88	1	0	0	0	0	0	0	1	0	12607	521	18	2	1094	2	PRLR	5	35068880	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3428	35068880	145846380	5845	13557											
PRLR	5618	broad.mit.edu	37	chr5	35072836	35072836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccagctccaaaggaggGtctggctgaactgcagaaat	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35072836G>A	ENST00000382002.5	-	6	810	c.384C>T	c.(382-384)gaC>gaT	p.D128D	PRLR_ENST00000513753.1_Silent_p.D128D|PRLR_ENST00000342362.5_Silent_p.D27D|PRLR_ENST00000542609.1_Silent_p.D128D|PRLR_ENST00000397391.3_Silent_p.D57D|PRLR_ENST00000310101.5_Silent_p.D128D|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000511486.1_Silent_p.D27D|PRLR_ENST00000231423.3_Silent_p.D128D|PRLR_ENST00000348262.3_Silent_p.D128D	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	128	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCAAAGGAGGGTCTGGCTGAA	0.428													False	0	True	5:35072836	0	A	35072836	G	A	35072836	2	1	88	1	0	0	0	0	0	0	0	1	12607	1252	44	2		2	PRLR	5	35072836	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3956	35072836	145842424	5846	13558											
SPEF2	79925	broad.mit.edu	37	chr5	35670327	35670328	+	Frame_Shift_Ins	INS	-	-	GATTTTAAACATTGGTATTTTTATTATATTT													caatgattatgaagaatataINSaggtacctactgatatgaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35670327_35670328insGATTTTAAACATTGGTATTTTTATTATATTT	ENST00000440995.2	+	10	1522_1523	c.1522_1523insGATTTTAAACATTGGTATTTTTATTATATTT	c.(1522-1524)aagfs	p.K508fs	SPEF2_ENST00000509059.1_Frame_Shift_Ins_p.K508fs|SPEF2_ENST00000356031.3_Frame_Shift_Ins_p.K508fs|SPEF2_ENST00000282469.6_Frame_Shift_Ins_p.K508fs			Q9C093	SPEF2_HUMAN	sperm flagellar 2	508					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAAGAATATAAGGTACCTACT	0.307													False	0	False	5:35670327	0	GATTTTAAACATTGGTATTTTTATTATATTT	35670328	-	GATTTTAAACATTGGTATTTTTATTATATTT	35670327	7	5	88	1	0	1	1	0	0	0	0	0	15117	363	13	0	1560	0	SPEF2	5	35670327	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	597491	35670327	145244933	5847	13559											
SPEF2	79925	broad.mit.edu	37	chr5	35691298	35691298	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccttcatttgctgttaaaGgatgcttattggggaaaaca	9	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35691298G>T	ENST00000440995.2	+	11	1684	c.1684G>T	c.(1684-1686)Gga>Tga	p.G562*	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.G562*|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.G562*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	562					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCTGTTAAAGGATGCTTATT	0.403													False	0	True	5:35691298	0	T	35691298	G	T	35691298	4	4	88	1	0	0	0	0	0	1	0	0	15117	1001	35	3	1747	3	SPEF2	5	35691298	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20971	35691298	145223962	5848	13560											
SPEF2	79925	broad.mit.edu	37	chr5	35740046	35740046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgtttttagtaccttActgggaactaatagaaaatt	7	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35740046A>G	ENST00000440995.2	+	22	3074	c.3074A>G	c.(3073-3075)tAc>tGc	p.Y1025C	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.Y1030C			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1030					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAGTACCTTACTGGGAACTA	0.338													False	0	False	5:35740046	0	G	35740046	A	G	35740046	3	3	88	1	0	0	0	0	1	0	0	0	15117	391	14	4	3196	4	SPEF2	5	35740046	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48748	35740046	145175214	5849	13561											
SPEF2	79925	broad.mit.edu	37	chr5	35740347	35740347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgatgaggaaacaaaggCtgaactacatcaacgagtga	12	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35740347C>T	ENST00000440995.2	+	23	3293	c.3293C>T	c.(3292-3294)gCt>gTt	p.A1098V	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.A1103V			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1103					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAACAAAGGCTGAACTACAT	0.448													False	0	False	5:35740347	0	T	35740347	C	T	35740347	3	4	88	1	0	0	0	0	1	0	0	0	15117	797	28	2	3419	2	SPEF2	5	35740347	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	301	35740347	145174913	5850	13562											
IL7R	3575	broad.mit.edu	37	chr5	35876421	35876421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgtgtaccaggacctcCtgcttagccttgggactaca	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35876421C>A	ENST00000303115.3	+	8	1342	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	405					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCAGGACCTCCTGCTTAGCCT	0.542			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						False	0	False	5:35876421	0	A	35876421	C	A	35876421	3	1	88	1	0	0	0	0	1	0	0	0	7755	680	24	3	1243	3	IL7R	5	35876421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136074	35876421	145038839	5851	13563											
UGT3A1	133688	broad.mit.edu	37	chr5	35957307	35957307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccaggaggtcactctgaGgaagccagtccacaattttc	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35957307G>A	ENST00000274278.3	-	5	1415	c.1058C>T	c.(1057-1059)cCt>cTt	p.P353L	UGT3A1_ENST00000503189.1_Missense_Mutation_p.P353L|UGT3A1_ENST00000507113.1_Missense_Mutation_p.P319L|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	353						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCACTCTGAGGAAGCCAGTC	0.498													False	0	False	5:35957307	0	A	35957307	G	A	35957307	3	1	88	1	0	0	0	0	1	0	0	0	17047	1000	35	2	525	2	UGT3A1	5	35957307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80886	35957307	144957953	5852	13564											
UGT3A1	133688	broad.mit.edu	37	chr5	35965575	35965575	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaaaatcaaaggcaaaAtcagagttaacaaaccacaa	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965575A>C	ENST00000274278.3	-	4	1113	c.756T>G	c.(754-756)gaT>gaG	p.D252E	UGT3A1_ENST00000503189.1_Missense_Mutation_p.D252E|UGT3A1_ENST00000507113.1_Missense_Mutation_p.D218E|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.D198E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	252						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAGGCAAAATCAGAGTTAA	0.433													False	0	True	5:35965575	0	C	35965575	A	C	35965575	3	2	88	1	0	0	0	0	1	0	0	0	17047	98	4	4	913	4	UGT3A1	5	35965575	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8268	35965575	144949685	5853	13565											
UGT3A1	133688	broad.mit.edu	37	chr5	35965630	35965630	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgagacaaaactggcCtagagccttctgggaaatgc	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965630C>A	ENST00000274278.3	-	4	1058	c.701G>T	c.(700-702)aGg>aTg	p.R234M	UGT3A1_ENST00000503189.1_Missense_Mutation_p.R234M|UGT3A1_ENST00000507113.1_Missense_Mutation_p.R200M|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.R180M	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	234						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAACTGGCCTAGAGCCTTC	0.438													False	0	False	5:35965630	0	A	35965630	C	A	35965630	3	1	88	1	0	0	0	0	1	0	0	0	17047	681	24	3	968	3	UGT3A1	5	35965630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	35965630	144949630	5854	13566											
UGT3A1	133688	broad.mit.edu	37	chr5	35965841	35965841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtggtgggaagaatggCcacaaatggtttcacaagct	13	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965841C>T	ENST00000274278.3	-	4	847	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	UGT3A1_ENST00000503189.1_Missense_Mutation_p.A164T|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A130T|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A110T	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	164						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGAATGGCCACAAATGGT	0.418													False	0	False	5:35965841	0	T	35965841	C	T	35965841	3	4	88	1	0	0	0	0	1	0	0	0	17047	739	26	2	1179	2	UGT3A1	5	35965841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211	35965841	144949419	5855	13567											
UGT3A1	133688	broad.mit.edu	37	chr5	35965947	35965947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaaggaatccattatatcCtttctgcttagcaaataact	4	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965947C>A	ENST00000274278.3	-	4	741	c.384G>T	c.(382-384)aaG>aaT	p.K128N	UGT3A1_ENST00000503189.1_Missense_Mutation_p.K128N|UGT3A1_ENST00000507113.1_Missense_Mutation_p.K94N|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.K74N	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	128						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCATTATATCCTTTCTGCTTA	0.308													False	0	True	5:35965947	0	A	35965947	C	A	35965947	3	1	88	1	0	0	0	0	1	0	0	0	17047	680	24	3	1285	3	UGT3A1	5	35965947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106	35965947	144949313	5856	13568											
UGT3A1	133688	broad.mit.edu	37	chr5	35988604	35988604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagtcacattatgaccatgCtcttgaagaatctgagacac	7	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35988604C>A	ENST00000274278.3	-	2	501	c.144G>T	c.(142-144)gaG>gaT	p.E48D	UGT3A1_ENST00000503189.1_Missense_Mutation_p.E48D|UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	48						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATGACCATGCTCTTGAAGAA	0.343													False	0	False	5:35988604	0	A	35988604	C	A	35988604	3	1	88	1	0	0	0	0	1	0	0	0	17047	796	28	3	1533	3	UGT3A1	5	35988604	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22657	35988604	144926656	5857	13569											
UGT3A2	167127	broad.mit.edu	37	chr5	36038073	36038073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggatggcctccattatgCtattctgcccgccgtgggtg	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36038073C>T	ENST00000282507.3	-	6	1222	c.1121G>A	c.(1120-1122)aGc>aAc	p.S374N	UGT3A2_ENST00000513300.1_Missense_Mutation_p.S340N|UGT3A2_ENST00000545528.1_Missense_Mutation_p.S72N	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	374						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCCATTATGCTATTCTGCCC	0.493													False	0	False	5:36038073	0	T	36038073	C	T	36038073	3	4	88	1	0	0	0	0	1	0	0	0	17048	797	28	2	458	2	UGT3A2	5	36038073	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49469	36038073	144877187	5858	13570											
UGT3A2	167127	broad.mit.edu	37	chr5	36049058	36049058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtgttgggaagcagaggtCgagcaaaatcaaaggcaaag	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36049058C>T	ENST00000282507.3	-	4	877	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	UGT3A2_ENST00000513300.1_Missense_Mutation_p.R225Q|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	259						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCAGAGGTCGAGCAAAATC	0.423													False	0	False	5:36049058	0	T	36049058	C	T	36049058	3	4	88	1	0	0	0	0	1	0	0	0	17048	884	31	1	811	1	UGT3A2	5	36049058	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10985	36049058	144866202	5859	13571											
LMBRD2	92255	broad.mit.edu	37	chr5	36108727	36108727	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctattgtgtccataAcgttctttccattcctagaa	4	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36108727A>C	ENST00000296603.4	-	16	2268	c.1806T>G	c.(1804-1806)cgT>cgG	p.R602R		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	602						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGTCCATAACGTTCTTTCC	0.303													False	0	False	5:36108727	0	C	36108727	A	C	36108727	2	2	88	1	0	0	0	0	0	0	0	1	8896	30	2	4		4	LMBRD2	5	36108727	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	59669	36108727	144806533	5860	13572											
LMBRD2	92255	broad.mit.edu	37	chr5	36122989	36122989	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agacttttttcacttggataGatactatgcttttcatcaaa	5	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36122989G>A	ENST00000296603.4	-	8	1359	c.897C>T	c.(895-897)atC>atT	p.I299I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	299						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTTGGATAGATACTATGCT	0.269													False	0	True	5:36122989	0	A	36122989	G	A	36122989	2	1	88	1	0	0	0	0	0	0	0	1	8896	932	33	2		2	LMBRD2	5	36122989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14262	36122989	144792271	5861	13573											
LMBRD2	92255	broad.mit.edu	37	chr5	36141208	36141208	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcatttactgtaacttaCcatgttaaaaattgtgacgt	5	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36141208C>T	ENST00000296603.4	-	4	831		c.e4+1			NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2							integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGTAACTTACCATGTTAAAA	0.313													False	0	False	5:36141208	0	T	36141208	C	T	36141208	5	4	88	1	0	0	0	0	0	0	1	0	8896	521	18	2	1778	2	LMBRD2	5	36141208	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18219	36141208	144774052	5862	13574											
SKP2	6502	broad.mit.edu	37	chr5	36163852	36163852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgtaagaggtggtatcGcctagcgtaagtatttttca	11	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36163852G>A	ENST00000274255.6	+	3	582	c.386G>A	c.(385-387)cGc>cAc	p.R129H	SKP2_ENST00000274254.5_Missense_Mutation_p.R129H|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	129	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGTGGTATCGCCTAGCGTAA	0.468													False	0	False	5:36163852	0	A	36163852	G	A	36163852	3	1	88	1	0	0	0	0	1	0	0	0	14443	1087	38	1	396	1	SKP2	5	36163852	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22644	36163852	144751408	5863	13575											
SKP2	6502	broad.mit.edu	37	chr5	36168460	36168460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatcgaactcagttatagaAgtgtccaccctccacggcat	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36168460A>G	ENST00000274255.6	+	5	778	c.582A>G	c.(580-582)gaA>gaG	p.E194E	SKP2_ENST00000274254.5_Silent_p.E194E|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	194					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTTATAGAAGTGTCCACCC	0.507													False	0	False	5:36168460	0	G	36168460	A	G	36168460	2	3	88	1	0	0	0	0	0	0	0	1	14443	69	3	4		4	SKP2	5	36168460	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4608	36168460	144746800	5864	13576											
RANBP3L	202151	broad.mit.edu	37	chr5	36255604	36255604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaatgttccacagtcagtgCttgctgtgtcattcagtctc	9	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36255604C>A	ENST00000296604.3	-	11	1477	c.992G>T	c.(991-993)aGc>aTc	p.S331I	RANBP3L_ENST00000502994.1_Missense_Mutation_p.S356I	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	331	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ACAGTCAGTGCTTGCTGTGTC	0.363													False	0	True	5:36255604	0	A	36255604	C	A	36255604	3	1	88	1	0	0	0	0	1	0	0	0	13109	797	28	3	421	3	RANBP3L	5	36255604	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87144	36255604	144659656	5865	13577											
NIPBL	25836	broad.mit.edu	37	chr5	36961636	36961636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaattccatgcacagtagtCctgcatcttccaattatcaa	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36961636C>T	ENST00000282516.8	+	5	908	c.409C>T	c.(409-411)Cct>Tct	p.P137S	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.P137S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	137					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCACAGTAGTCCTGCATCTTC	0.328													False	0	False	5:36961636	0	T	36961636	C	T	36961636	3	4	88	1	0	0	0	0	1	0	0	0	10496	855	30	2	423	2	NIPBL	5	36961636	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	706032	36961636	143953624	5866	13578											
NIPBL	25836	broad.mit.edu	37	chr5	37000589	37000589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcatgaaggaagaaggaGttcaggtggtggtcgttatc	14	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37000589G>A	ENST00000282516.8	+	12	3918	c.3419G>A	c.(3418-3420)aGt>aAt	p.S1140N	NIPBL_ENST00000448238.2_Missense_Mutation_p.S1140N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1140					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGAAGAAGGAGTTCAGGTGGT	0.453													False	0	False	5:37000589	0	A	37000589	G	A	37000589	3	1	88	1	0	0	0	0	1	0	0	0	10496	1029	36	2	3461	2	NIPBL	5	37000589	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38953	37000589	143914671	5867	13579											
NIPBL	25836	broad.mit.edu	37	chr5	37000985	37000985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atatgaaccaaaactaacacCtgaaggtaacacgttagttt	6	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37000985C>A	ENST00000282516.8	+	13	4068	c.3569C>A	c.(3568-3570)cCt>cAt	p.P1190H	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1190H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1190					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAACTAACACCTGAAGGTAAC	0.299													False	0	False	5:37000985	0	A	37000985	C	A	37000985	3	1	88	1	0	0	0	0	1	0	0	0	10496	681	24	3	3615	3	NIPBL	5	37000985	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396	37000985	143914275	5868	13580											
NIPBL	25836	broad.mit.edu	37	chr5	37020568	37020568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttctttccagttttctcGtaaattctatatagcccagt	4	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37020568G>A	ENST00000282516.8	+	26	5517	c.5018G>A	c.(5017-5019)cGt>cAt	p.R1673H	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1673H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1673					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGTTTTCTCGTAAATTCTAT	0.343													False	0	False	5:37020568	0	A	37020568	G	A	37020568	3	1	88	1	0	0	0	0	1	0	0	0	10496	1145	40	1	5116	1	NIPBL	5	37020568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19583	37020568	143894692	5869	13581											
NIPBL	25836	broad.mit.edu	37	chr5	37045656	37045656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgttggagcactatgtcGgcattttgattttgatctgg	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37045656G>A	ENST00000282516.8	+	37	6954	c.6455G>A	c.(6454-6456)cGg>cAg	p.R2152Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2152Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2152					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCACTATGTCGGCATTTTGAT	0.363													False	0	False	5:37045656	0	A	37045656	G	A	37045656	3	1	88	1	0	0	0	0	1	0	0	0	10496	1116	39	1	6597	1	NIPBL	5	37045656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25088	37045656	143869604	5870	13582											
NIPBL	25836	broad.mit.edu	37	chr5	37051924	37051924	+	Missense_Mutation	SNP	C	C	T													gggcacagacccagaacctgCtatgcggaacaaggctgatc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37051924C>T	ENST00000282516.8	+	41	7497	c.6998C>T	c.(6997-6999)gCt>gTt	p.A2333V	NIPBL_ENST00000448238.2_Missense_Mutation_p.A2333V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2333					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCAGAACCTGCTATGCGGAAC	0.318													False	0	False	5:37051924	0	T	37051924	C	T	37051924	3	4	88	1	0	0	0	0	1	0	0	0	10496	797	28	2	7156	2	NIPBL	5	37051924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6268	37051924	143863336	5871	13583	175	2									
NIPBL	25836	broad.mit.edu	37	chr5	37051929	37051929	+	Missense_Mutation	SNP	C	C	T													cagacccagaacctgctatgCggaacaaggctgatcagcaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37051929C>T	ENST00000282516.8	+	41	7502	c.7003C>T	c.(7003-7005)Cgg>Tgg	p.R2335W	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2335W	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2335					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCTGCTATGCGGAACAAGGC	0.313													False	0	False	5:37051929	0	T	37051929	C	T	37051929	3	4	88	1	0	0	0	0	1	0	0	0	10496	759	27	1	7161	1	NIPBL	5	37051929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	37051929	143863331	5872	13584	175	2									
NIPBL	25836	broad.mit.edu	37	chr5	37059079	37059079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgaagaagaagtttccagGcctcggaagtcacggaaacg	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37059079G>A	ENST00000282516.8	+	44	7996	c.7497G>A	c.(7495-7497)agG>agA	p.R2499R	NIPBL_ENST00000448238.2_Silent_p.R2499R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2499					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAGTTTCCAGGCCTCGGAAGT	0.378													False	0	False	5:37059079	0	A	37059079	G	A	37059079	2	1	88	1	0	0	0	0	0	0	0	1	10496	1194	42	2		2	NIPBL	5	37059079	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7150	37059079	143856181	5873	13585											
C5orf42	65250	broad.mit.edu	37	chr5	37138820	37138820	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaattattcaatgattAcctggaggtgcccatagctt	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37138820A>G	ENST00000274258.7	-	45	8912		c.e45+1		C5orf42_ENST00000508244.1_Splice_Site|C5orf42_ENST00000512288.1_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42											breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCAATGATTACCTGGAGGTG	0.308													False	0	False	5:37138820	0	G	37138820	A	G	37138820	5	3	88	1	0	0	0	0	0	0	1	0	2318	405	14	4	993	4	C5orf42	5	37138820	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	79741	37138820	143776440	5874	13586											
C5orf42	65250	broad.mit.edu	37	chr5	37181020	37181020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagttccacctggagttgCtactgcaactgaaccgccag	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37181020C>T	ENST00000274258.7	-	27	5739	c.2152G>A	c.(2152-2154)Gca>Aca	p.A718T	C5orf42_ENST00000508244.1_Missense_Mutation_p.A1837T|C5orf42_ENST00000425232.2_Missense_Mutation_p.A1837T			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1837										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTGGAGTTGCTACTGCAACT	0.408													False	0	False	5:37181020	0	T	37181020	C	T	37181020	3	4	88	1	0	0	0	0	1	0	0	0	2318	797	28	2	4188	2	C5orf42	5	37181020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42200	37181020	143734240	5875	13587											
C5orf42	65250	broad.mit.edu	37	chr5	37187589	37187589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttccatattaaaaaacCgagagaaaggcagcattcta	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37187589C>T	ENST00000274258.7	-	23	4237	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	C5orf42_ENST00000508244.1_Missense_Mutation_p.R1336Q|C5orf42_ENST00000425232.2_Missense_Mutation_p.R1336Q			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1336										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATTAAAAAACCGAGAGAAAGG	0.378													False	0	True	5:37187589	0	T	37187589	C	T	37187589	3	4	88	1	0	0	0	0	1	0	0	0	2318	652	23	1	5706	1	C5orf42	5	37187589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6569	37187589	143727671	5876	13588											
C5orf42	65250	broad.mit.edu	37	chr5	37187945	37187945	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaagttctctgaagcaacCtaaagcaggaacacaaatat	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37187945C>T	ENST00000274258.7	-	22	4042		c.e22-1		C5orf42_ENST00000508244.1_Splice_Site|C5orf42_ENST00000425232.2_Splice_Site			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42											breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTGAAGCAACCTAAAGCAGGA	0.343													False	0	False	5:37187945	0	T	37187945	C	T	37187945	5	4	88	1	0	0	0	0	0	0	1	0	2318	695	24	2	5906	2	C5orf42	5	37187945	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356	37187945	143727315	5877	13589											
C5orf42	65250	broad.mit.edu	37	chr5	37201716	37201716	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actaagaatagctggctgggGacagtacaatggaggagctg	15	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37201716G>T	ENST00000274258.7	-	19	3714	c.127C>A	c.(127-129)Ccc>Acc	p.P43T	C5orf42_ENST00000508244.1_Missense_Mutation_p.P1162T|C5orf42_ENST00000425232.2_Missense_Mutation_p.P1162T			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1162										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCTGGCTGGGGACAGTACAAT	0.353													False	0	True	5:37201716	0	T	37201716	G	T	37201716	3	4	88	1	0	0	0	0	1	0	0	0	2318	1174	41	3	6245	3	C5orf42	5	37201716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13771	37201716	143713544	5878	13590											
NUP155	9631	broad.mit.edu	37	chr5	37324155	37324155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctagaaattcctgcaaacCctttagttcttgtagcactg	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37324155C>T	ENST00000231498.3	-	20	2349	c.2146G>A	c.(2146-2148)Ggt>Agt	p.G716S	NUP155_ENST00000381843.2_Missense_Mutation_p.G657S|NUP155_ENST00000513532.1_Missense_Mutation_p.G716S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	716					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTGCAAACCCTTTAGTTCT	0.353													False	0	True	5:37324155	0	T	37324155	C	T	37324155	3	4	88	1	0	0	0	0	1	0	0	0	10824	623	22	2	2093	2	NUP155	5	37324155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122439	37324155	143591105	5879	13591											
NUP155	9631	broad.mit.edu	37	chr5	37331826	37331826	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaatctcttctccatcTcctcccacattactcacaag	1	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37331826T>C	ENST00000231498.3	-	14	1793	c.1590A>G	c.(1588-1590)ggA>ggG	p.G530G	NUP155_ENST00000381843.2_Silent_p.G471G|NUP155_ENST00000513532.1_Silent_p.G530G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	530					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTCTCCATCTCCTCCCACAT	0.328													False	0	False	5:37331826	0	C	37331826	T	C	37331826	2	2	88	1	0	0	0	0	0	0	0	1	10824	1538	54	4		4	NUP155	5	37331826	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7671	37331826	143583434	5880	13592											
WDR70	55100	broad.mit.edu	37	chr5	37479970	37479970	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattacagtatagtaacacaGgagacatgattcttgttgta	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37479970G>T	ENST00000265107.4	+	8	877	c.721G>T	c.(721-723)Gga>Tga	p.G241*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.G241*|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	241										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGTAACACAGGAGACATGAT	0.348													False	0	False	5:37479970	0	T	37479970	G	T	37479970	4	4	88	1	0	0	0	0	0	1	0	0	17405	1001	35	3	751	3	WDR70	5	37479970	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148144	37479970	143435290	5881	13593											
WDR70	55100	broad.mit.edu	37	chr5	37723012	37723012	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggcaaaacaagctgagactCtaactcaggactacatcatc	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37723012C>T	ENST00000265107.4	+	15	1729	c.1573C>T	c.(1573-1575)Cta>Tta	p.L525L		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	525										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCTGAGACTCTAACTCAGGA	0.403													False	0	False	5:37723012	0	T	37723012	C	T	37723012	2	4	88	1	0	0	0	0	0	0	0	1	17405	912	32	2		2	WDR70	5	37723012	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243042	37723012	143192248	5882	13594											
EGFLAM	133584	broad.mit.edu	37	chr5	38407154	38407154	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgccttgtgatgaaactctCtgctctgctgacagcttctg	9	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38407154C>A	ENST00000322350.5	+	8	1399	c.1053C>A	c.(1051-1053)ctC>ctA	p.L351L	EGFLAM_ENST00000336740.6_Silent_p.L117L|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Silent_p.L351L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	351	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATGAAACTCTCTGCTCTGCTG	0.557													False	0	True	5:38407154	0	A	38407154	C	A	38407154	2	1	88	1	0	0	0	0	0	0	0	1	4996	900	32	3		3	EGFLAM	5	38407154	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	684142	38407154	142508106	5883	13595											
EGFLAM	133584	broad.mit.edu	37	chr5	38409193	38409193	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctggctatcatccgacgcTccctgcagttcaggtaattc	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38409193T>G	ENST00000322350.5	+	10	1682	c.1336T>G	c.(1336-1338)Tcc>Gcc	p.S446A	EGFLAM_ENST00000336740.6_Missense_Mutation_p.S212A|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Missense_Mutation_p.S446A	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	446	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATCCGACGCTCCCTGCAGTT	0.433													False	0	True	5:38409193	0	G	38409193	T	G	38409193	3	3	88	1	0	0	0	0	1	0	0	0	4996	1551	54	4	1388	4	EGFLAM	5	38409193	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2039	38409193	142506067	5884	13596											
EGFLAM	133584	broad.mit.edu	37	chr5	38427240	38427240	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atttcggccagactcaggagAtggtgtcctcctgtacagct	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38427240A>T	ENST00000322350.5	+	14	2286	c.1940A>T	c.(1939-1941)gAt>gTt	p.D647V	EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D413V|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D13V|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D647V	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	647	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACTCAGGAGATGGTGTCCTC	0.542													False	0	False	5:38427240	0	T	38427240	A	T	38427240	3	4	88	1	0	0	0	0	1	0	0	0	4996	333	12	5	2008	5	EGFLAM	5	38427240	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18047	38427240	142488020	5885	13597											
LIFR	3977	broad.mit.edu	37	chr5	38482250	38482250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctattttaggaaatgctgatCgagtttccagaacctcaaca	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38482250C>T	ENST00000263409.4	-	20	2903	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q	LIFR_ENST00000453190.2_Missense_Mutation_p.R914Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	914					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAATGCTGATCGAGTTTCCAG	0.388			T	PLAG1	salivary adenoma								False	0	False	5:38482250	0	T	38482250	C	T	38482250	3	4	88	1	0	0	0	0	1	0	0	0	8832	884	31	1	556	1	LIFR	5	38482250	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55010	38482250	142433010	5886	13598											
LIFR	3977	broad.mit.edu	37	chr5	38484883	38484883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcagaactattaccattctCgtttccgatagcaaaggata	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38484883C>T	ENST00000263409.4	-	18	2747	c.2585G>A	c.(2584-2586)cGa>cAa	p.R862Q	LIFR_ENST00000453190.2_Missense_Mutation_p.R862Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	862					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTACCATTCTCGTTTCCGATA	0.363			T	PLAG1	salivary adenoma								False	0	False	5:38484883	0	T	38484883	C	T	38484883	3	4	88	1	0	0	0	0	1	0	0	0	8832	884	31	1	720	1	LIFR	5	38484883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2633	38484883	142430377	5887	13599											
LIFR	3977	broad.mit.edu	37	chr5	38493825	38493825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgcaagtcatgttggggtCgtaatgccaggtgaggagaa	16	6	1	2	rs143621762	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38493825C>T	ENST00000263409.4	-	14	2110	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	LIFR_ENST00000453190.2_Missense_Mutation_p.D650N|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	650	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATGTTGGGGTCGTAATGCCAG	0.438			T	PLAG1	salivary adenoma								False	0	False	5:38493825	0	T	38493825	C	T	38493825	3	4	88	1	0	0	0	0	1	0	0	0	8832	884	31	1	1373	1	LIFR	5	38493825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8942	38493825	142421435	5888	13600											
LIFR	3977	broad.mit.edu	37	chr5	38496596	38496596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcgtatctctgctttgtgCtgaggatcagggatttcaga	12	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38496596C>A	ENST00000263409.4	-	13	1935	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	LIFR_ENST00000453190.2_Missense_Mutation_p.Q591H|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	591	Fibronectin type-III 4.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTGCTTTGTGCTGAGGATCAG	0.408			T	PLAG1	salivary adenoma								False	0	False	5:38496596	0	A	38496596	C	A	38496596	3	1	88	1	0	0	0	0	1	0	0	0	8832	796	28	3	1552	3	LIFR	5	38496596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2771	38496596	142418664	5889	13601											
LIFR	3977	broad.mit.edu	37	chr5	38530694	38530694	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatttgaagcagtcctcattCttttattgtccaccatccag	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38530694C>T	ENST00000263409.4	-	2	218	c.56G>A	c.(55-57)aGa>aAa	p.R19K	LIFR_ENST00000453190.2_Missense_Mutation_p.R19K|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	19					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AGTCCTCATTCTTTTATTGTC	0.388			T	PLAG1	salivary adenoma								False	0	True	5:38530694	0	T	38530694	C	T	38530694	3	4	88	1	0	0	0	0	1	0	0	0	8832	913	32	2	3313	2	LIFR	5	38530694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34098	38530694	142384566	5890	13602											
OSMR	9180	broad.mit.edu	37	chr5	38923316	38923316	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatctacaaaaaggattgcTtgtttattagagaaaaaaac	6	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38923316T>A	ENST00000274276.3	+	13	2232	c.1830T>A	c.(1828-1830)gcT>gcA	p.A610A		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	610	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAAGGATTGCTTGTTTATTAG	0.343													False	0	False	5:38923316	0	A	38923316	T	A	38923316	2	1	88	1	0	0	0	0	0	0	0	1	11360	1596	56	5		5	OSMR	5	38923316	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	392622	38923316	141991944	5891	13603											
OSMR	9180	broad.mit.edu	37	chr5	38925342	38925342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatacaaaattgacaaccCggaagaaaaggcattgattg	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38925342C>T	ENST00000274276.3	+	15	2483	c.2081C>T	c.(2080-2082)cCg>cTg	p.P694L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	694	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATTGACAACCCGGAAGAAAAG	0.358													False	0	True	5:38925342	0	T	38925342	C	T	38925342	3	4	88	1	0	0	0	0	1	0	0	0	11360	652	23	1	2173	1	OSMR	5	38925342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2026	38925342	141989918	5892	13604											
OSMR	9180	broad.mit.edu	37	chr5	38933354	38933354	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggagaaacaagtttgaaTtatgtgtcccagttggcttc	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38933354T>G	ENST00000274276.3	+	18	3150	c.2748T>G	c.(2746-2748)aaT>aaG	p.N916K		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	916					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CAAGTTTGAATTATGTGTCCC	0.443													False	0	False	5:38933354	0	G	38933354	T	G	38933354	3	3	88	1	0	0	0	0	1	0	0	0	11360	1490	52	4	2852	4	OSMR	5	38933354	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8012	38933354	141981906	5893	13605											
RICTOR	253260	broad.mit.edu	37	chr5	38942978	38942978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataattcttgtatgaacctcCgacacggaagtctgaatgtg	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38942978C>T	ENST00000357387.3	-	37	5039	c.5009G>A	c.(5008-5010)cGg>cAg	p.R1670Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.R1694Q	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1670					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TATGAACCTCCGACACGGAAG	0.343													False	0	False	5:38942978	0	T	38942978	C	T	38942978	3	4	88	1	0	0	0	0	1	0	0	0	13437	652	23	1	125	1	RICTOR	5	38942978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9624	38942978	141972282	5894	13606											
RICTOR	253260	broad.mit.edu	37	chr5	38947536	38947536	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcataacttaaggcttTcatgaacctataaaaccata	5	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38947536T>G	ENST00000357387.3	-	32	4174	c.4144A>C	c.(4144-4146)Aaa>Caa	p.K1382Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.K1406Q	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1382					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTTAAGGCTTTCATGAACCTA	0.328													False	0	True	5:38947536	0	G	38947536	T	G	38947536	3	3	88	1	0	0	0	0	1	0	0	0	13437	1792	62	4	1010	4	RICTOR	5	38947536	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4558	38947536	141967724	5895	13607											
RICTOR	253260	broad.mit.edu	37	chr5	38950004	38950004	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtgtaactaaagttacaatCtgctagacttttaattgtag	7	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38950004C>T	ENST00000357387.3	-	31	3976	c.3946G>A	c.(3946-3948)Gat>Aat	p.D1316N	RICTOR_ENST00000296782.5_Missense_Mutation_p.D1316N	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1316					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AAGTTACAATCTGCTAGACTT	0.418													False	0	False	5:38950004	0	T	38950004	C	T	38950004	3	4	88	1	0	0	0	0	1	0	0	0	13437	913	32	2	1212	2	RICTOR	5	38950004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2468	38950004	141965256	5896	13608											
RICTOR	253260	broad.mit.edu	37	chr5	38950285	38950285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccacttgttgtagtgtctGtattgaaactttggctacgt	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38950285G>A	ENST00000357387.3	-	31	3695	c.3665C>T	c.(3664-3666)aCa>aTa	p.T1222I	RICTOR_ENST00000296782.5_Missense_Mutation_p.T1222I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1222					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGTAGTGTCTGTATTGAAACT	0.418													False	0	False	5:38950285	0	A	38950285	G	A	38950285	3	1	88	1	0	0	0	0	1	0	0	0	13437	1377	48	2	1493	2	RICTOR	5	38950285	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	281	38950285	141964975	5897	13609											
RICTOR	253260	broad.mit.edu	37	chr5	38953136	38953136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaagttttagtatatctgGaatcacgttttcttcctgta	7	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38953136G>A	ENST00000357387.3	-	29	2878	c.2848C>T	c.(2848-2850)Cca>Tca	p.P950S	RICTOR_ENST00000296782.5_Missense_Mutation_p.P950S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	950					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGTATATCTGGAATCACGTTT	0.353													False	0	False	5:38953136	0	A	38953136	G	A	38953136	3	1	88	1	0	0	0	0	1	0	0	0	13437	1174	41	2	2318	2	RICTOR	5	38953136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2851	38953136	141962124	5898	13610											
C9	735	broad.mit.edu	37	chr5	39341328	39341328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggggctcactttcacaatcAtcctcatctgaaaagtctcc	6	14	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39341328A>C	ENST00000263408.4	-	4	491	c.396T>G	c.(394-396)gaT>gaG	p.D132E	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	132	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTTCACAATCATCCTCATCTG	0.478													False	0	False	5:39341328	0	C	39341328	A	C	39341328	3	2	88	1	0	0	0	0	1	0	0	0	2463	214	8	4	1315	4	C9	5	39341328	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	388192	39341328	141573932	5899	13611											
DAB2	1601	broad.mit.edu	37	chr5	39381710	39381710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgatgcaagcaagtcattGgctgaagactgacaggacag	12	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39381710G>A	ENST00000320816.6	-	11	1817	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	DAB2_ENST00000545653.1_Silent_p.A429A|DAB2_ENST00000339788.6_Silent_p.A232A|DAB2_ENST00000509337.1_Silent_p.A429A	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	450					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GCAAGTCATTGGCTGAAGACT	0.522													False	0	False	5:39381710	0	A	39381710	G	A	39381710	2	1	88	1	0	0	0	0	0	0	0	1	4243	1335	47	2		2	DAB2	5	39381710	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40382	39381710	141533550	5900	13612											
DAB2	1601	broad.mit.edu	37	chr5	39382969	39382969	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcgaacttgaaaagggCcatgggcctgcctgagcttc	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39382969C>T	ENST00000320816.6	-	10	1559	c.1092G>A	c.(1090-1092)tgG>tgA	p.W364*	DAB2_ENST00000545653.1_Nonsense_Mutation_p.W343*|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Nonsense_Mutation_p.W343*	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	364					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGAAAAGGGCCATGGGCCTG	0.502													False	0	True	5:39382969	0	T	39382969	C	T	39382969	4	4	88	1	0	0	0	0	0	1	0	0	4243	740	26	2	1240	2	DAB2	5	39382969	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1259	39382969	141532291	5901	13613											
DAB2	1601	broad.mit.edu	37	chr5	39383090	39383090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggagtagacgagctactcGaattctctttcttctgatct	9	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39383090G>A	ENST00000320816.6	-	10	1438	c.971C>T	c.(970-972)tCg>tTg	p.S324L	DAB2_ENST00000545653.1_Missense_Mutation_p.S303L|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.S303L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	324					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.S324*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CGAGCTACTCGAATTCTCTTT	0.468													False	0	False	5:39383090	0	A	39383090	G	A	39383090	3	1	88	1	0	0	0	0	1	0	0	0	4243	1059	37	1	1361	1	DAB2	5	39383090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121	39383090	141532170	5902	13614											
PTGER4	5734	broad.mit.edu	37	chr5	40681899	40681899	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgcatcgcgggcgccgagatCcagatggtcatcttactcat	11	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40681899C>A	ENST00000302472.3	+	2	1828	c.804C>A	c.(802-804)atC>atA	p.I268I		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	268					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCGCCGAGATCCAGATGGTCA	0.687													False	0	False	5:40681899	0	A	40681899	C	A	40681899	2	1	88	1	0	0	0	0	0	0	0	1	12822	845	30	3		3	PTGER4	5	40681899	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1298809	40681899	140233361	5903	13615											
TTC33	23548	broad.mit.edu	37	chr5	40716255	40716255	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcatactgcttcatcgggCtttgataaaaacagagccat	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40716255C>A	ENST00000337702.4	-	5	933	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	261							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CTTCATCGGGCTTTGATAAAA	0.393													False	0	True	5:40716255	0	A	40716255	C	A	40716255	3	1	88	1	0	0	0	0	1	0	0	0	16786	797	28	3	11	3	TTC33	5	40716255	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34356	40716255	140199005	5904	13616											
PRKAA1	5562	broad.mit.edu	37	chr5	40769539	40769539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgaaattacttctggtGcagcatagttgggtgagcca	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40769539G>A	ENST00000397128.2	-	5	583	c.575C>T	c.(574-576)gCa>gTa	p.A192V	PRKAA1_ENST00000296800.4_Missense_Mutation_p.A183V|PRKAA1_ENST00000354209.3_Missense_Mutation_p.A207V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	192	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TACTTCTGGTGCAGCATAGTT	0.368													False	0	False	5:40769539	0	A	40769539	G	A	40769539	3	1	88	1	0	0	0	0	1	0	0	0	12569	1319	46	2	1124	2	PRKAA1	5	40769539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53284	40769539	140145721	5905	13617											
C7	730	broad.mit.edu	37	chr5	40947834	40947834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctctctgtatgactacaGtgcctaccgaagattaatcg	7	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40947834G>A	ENST00000313164.9	+	8	1228	c.869G>A	c.(868-870)aGt>aAt	p.S290N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	290	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TATGACTACAGTGCCTACCGA	0.428													False	0	False	5:40947834	0	A	40947834	G	A	40947834	3	1	88	1	0	0	0	0	1	0	0	0	2394	1029	36	2	899	2	C7	5	40947834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178295	40947834	139967426	5906	13618											
C7	730	broad.mit.edu	37	chr5	40972682	40972682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgagatgaagaatgcccGctgtgtacaaaaaggtgagt	12	7	0	4	rs113187203		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40972682G>A	ENST00000313164.9	+	15	2419	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	687	Sushi 2.		R -> H (in C7D).		complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAGAATGCCCGCTGTGTACAA	0.498													False	0	True	5:40972682	0	A	40972682	G	A	40972682	3	1	88	1	0	0	0	0	1	0	0	0	2394	1087	38	1	2118	1	C7	5	40972682	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24848	40972682	139942578	5907	13619											
C6	729	broad.mit.edu	37	chr5	41149377	41149377	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtcatagcaggtgtcataGccacaggattctttctttgt	9	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41149377G>T	ENST00000263413.3	-	17	2853	c.2589C>A	c.(2587-2589)ggC>ggA	p.G863G	C6_ENST00000337836.5_Silent_p.G863G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	863	C5b-binding domain.|Complement control factor I module 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGGTGTCATAGCCACAGGATT	0.428													False	0	False	5:41149377	0	T	41149377	G	T	41149377	2	4	88	1	0	0	0	0	0	0	0	1	2332	958	34	3		3	C6	5	41149377	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176695	41149377	139765883	5908	13620											
C6	729	broad.mit.edu	37	chr5	41149447	41149447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccattctaactggcggCcgtcttggcaggaaccaata	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41149447C>T	ENST00000263413.3	-	17	2783	c.2519G>A	c.(2518-2520)gGc>gAc	p.G840D	C6_ENST00000337836.5_Missense_Mutation_p.G840D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	840	C5b-binding domain.|Complement control factor I module 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAACTGGCGGCCGTCTTGGCA	0.418													False	0	False	5:41149447	0	T	41149447	C	T	41149447	3	4	88	1	0	0	0	0	1	0	0	0	2332	739	26	2	293	2	C6	5	41149447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70	41149447	139765813	5909	13621											
C6	729	broad.mit.edu	37	chr5	41160256	41160256	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atacttactggatttataatCtggagactgtttctcacagt	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41160256C>A	ENST00000263413.3	-	11	1936	c.1672G>T	c.(1672-1674)Gat>Tat	p.D558Y	C6_ENST00000337836.5_Missense_Mutation_p.D558Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	558					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GATTTATAATCTGGAGACTGT	0.418													False	0	False	5:41160256	0	A	41160256	C	A	41160256	3	1	88	1	0	0	0	0	1	0	0	0	2332	913	32	3	1164	3	C6	5	41160256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10809	41160256	139755004	5910	13622											
C6	729	broad.mit.edu	37	chr5	41176658	41176658	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagaggtgaagtaatgagTcccaaagtcatcgaatattc	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41176658T>C	ENST00000263413.3	-	8	1351	c.1087A>G	c.(1087-1089)Act>Gct	p.T363A	C6_ENST00000337836.5_Missense_Mutation_p.T363A|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	363	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAGTAATGAGTCCCAAAGTCA	0.433													False	0	True	5:41176658	0	C	41176658	T	C	41176658	3	2	88	1	0	0	0	0	1	0	0	0	2332	1667	58	4	1761	4	C6	5	41176658	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16402	41176658	139738602	5911	13623											
C6	729	broad.mit.edu	37	chr5	41186182	41186182	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcatacctcaaagccgAcattttccagattggccgga	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41186182A>C	ENST00000263413.3	-	6	980	c.716T>G	c.(715-717)gTc>gGc	p.V239G	C6_ENST00000337836.5_Missense_Mutation_p.V239G|C6_ENST00000475349.1_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	239	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTCAAAGCCGACATTTTCCAG	0.423													False	0	False	5:41186182	0	C	41186182	A	C	41186182	3	2	88	1	0	0	0	0	1	0	0	0	2332	275	10	4	2140	4	C6	5	41186182	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9524	41186182	139729078	5912	13624											
C6	729	broad.mit.edu	37	chr5	41203349	41203349	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgccttgagagcctccaGgccctaaaatgaaagaatac	8	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41203349G>T	ENST00000263413.3	-	0	248				C6_ENST00000337836.5_De_novo_Start_OutOfFrame	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6						complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGAGCCTCCAGGCCCTAAAAT	0.423													False	0	False	5:41203349	0	T	41203349	G	T	41203349	1	4	88	1	0	0	0	0	0	0	0	0	2332	1015	35	3		3	C6	5	41203349	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17167	41203349	139711911	5913	13625											
OXCT1	5019	broad.mit.edu	37	chr5	41805740	41805740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacgtcatctccaggtttaGcagatttggcttccccatct	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41805740G>A	ENST00000196371.5	-	9	1044	c.884C>T	c.(883-885)gCt>gTt	p.A295V	OXCT1_ENST00000509987.1_Missense_Mutation_p.A109V	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	295					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TCCAGGTTTAGCAGATTTGGC	0.423													False	0	False	5:41805740	0	A	41805740	G	A	41805740	3	1	88	1	0	0	0	0	1	0	0	0	11397	971	34	2	714	2	OXCT1	5	41805740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	602391	41805740	139109520	5914	13626											
C5orf51	285636	broad.mit.edu	37	chr5	41912217	41912217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctacagatgctaaattatcGatgtcctatccagttaaatg	7	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41912217G>A	ENST00000381647.2	+	5	552	c.533G>A	c.(532-534)cGa>cAa	p.R178Q		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	178										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTAAATTATCGATGTCCTATC	0.328													False	0	False	5:41912217	0	A	41912217	G	A	41912217	3	1	88	1	0	0	0	0	1	0	0	0	2325	1058	37	1	551	1	C5orf51	5	41912217	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106477	41912217	139003043	5915	13627											
FBXO4	26272	broad.mit.edu	37	chr5	41939678	41939678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgccctgtttttatttggCtcatgagctgcatctgaatc	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41939678C>T	ENST00000281623.3	+	6	1090	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	345					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TTTTATTTGGCTCATGAGCTG	0.368													False	0	False	5:41939678	0	T	41939678	C	T	41939678	3	4	88	1	0	0	0	0	1	0	0	0	5788	797	28	2	1082	2	FBXO4	5	41939678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27461	41939678	138975582	5916	13628											
GHR	2690	broad.mit.edu	37	chr5	42695175	42695175	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acagtggatgaaaagtgtttCtctgttgatgaaataggtaa	11	3	1	3	rs45501892		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42695175C>A	ENST00000230882.4	+	5	613	c.423C>A	c.(421-423)ttC>ttA	p.F141L	GHR_ENST00000357703.3_Missense_Mutation_p.F119L|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	141					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAAAGTGTTTCTCTGTTGATG	0.358													False	0	True	5:42695175	0	A	42695175	C	A	42695175	3	1	88	1	0	0	0	0	1	0	0	0	6416	912	32	3	437	3	GHR	5	42695175	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	755497	42695175	138220085	5917	13629											
GHR	2690	broad.mit.edu	37	chr5	42699999	42699999	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgggattcatgcagatatCcaagtgagatgggaagcacc	12	8	1	2	rs45477803	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42699999C>T	ENST00000230882.4	+	6	703	c.513C>T	c.(511-513)atC>atT	p.I171I	GHR_ENST00000357703.3_Silent_p.I149I|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	171	Fibronectin type-III.		I -> T (in LARS; almost completely abolishes GH-binding at cell surface: 53% binding to membrane fractions).		2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGCAGATATCCAAGTGAGAT	0.418													False	0	False	5:42699999	0	T	42699999	C	T	42699999	2	4	88	1	0	0	0	0	0	0	0	1	6416	845	30	2		2	GHR	5	42699999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4824	42699999	138215261	5918	13630											
SEPP1	6414	broad.mit.edu	37	chr5	42800927	42800927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgtcaggcagctggaggCaaacgtcactgacaagattc	11	9	2	2	rs17857312		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42800927C>T	ENST00000514985.1	-	5	1297	c.1041G>A	c.(1039-1041)ttG>ttA	p.L347L	SEPP1_ENST00000511224.1_Silent_p.L347L|SEPP1_ENST00000507920.1_3'UTR|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000506577.1_Silent_p.L347L	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	347				L -> F (in Ref. 5; AAH46152).	response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CAGCTGGAGGCAAACGTCACT	0.463													False	0	True	5:42800927	0	T	42800927	C	T	42800927	2	4	88	1	0	0	0	0	0	0	0	1	14138	709	25	2		2	SEPP1	5	42800927	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100928	42800927	138114333	5919	13631											
SEPP1	6414	broad.mit.edu	37	chr5	42808439	42808439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagagagccagggcaagcCccaggcttctccacattgct	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42808439C>T	ENST00000514985.1	-	2	273	c.17G>A	c.(16-18)gGg>gAg	p.G6E	SEPP1_ENST00000511224.1_Missense_Mutation_p.G6E|SEPP1_ENST00000507920.1_Missense_Mutation_p.G6E|SEPP1_ENST00000506577.1_Missense_Mutation_p.G6E|SEPP1_ENST00000509276.1_5'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	6					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CAGGGCAAGCCCCAGGCTTCT	0.478													False	0	True	5:42808439	0	T	42808439	C	T	42808439	3	4	88	1	0	0	0	0	1	0	0	0	14138	623	22	2	1144	2	SEPP1	5	42808439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7512	42808439	138106821	5920	13632											
ZNF131	7690	broad.mit.edu	37	chr5	43161449	43161449	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaaatgttatcactgagtCattgccatctgcagaatcag	7	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43161449C>T	ENST00000509634.1	+	4	926	c.470C>T	c.(469-471)tCa>tTa	p.S157L	ZNF131_ENST00000306938.4_Missense_Mutation_p.S157L|ZNF131_ENST00000509156.1_Missense_Mutation_p.S157L|ZNF131_ENST00000399534.1_Missense_Mutation_p.S157L|ZNF131_ENST00000505606.2_Missense_Mutation_p.S157L|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	157						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCACTGAGTCATTGCCATCT	0.408													False	0	False	5:43161449	0	T	43161449	C	T	43161449	3	4	88	1	0	0	0	0	1	0	0	0	17804	838	29	2	484	2	ZNF131	5	43161449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353010	43161449	137753811	5921	13633											
ZNF131	7690	broad.mit.edu	37	chr5	43161521	43161521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcaccattgaagtggaagAtgaaggcatcgaaacattag	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43161521A>G	ENST00000509634.1	+	4	998	c.542A>G	c.(541-543)gAt>gGt	p.D181G	ZNF131_ENST00000306938.4_Missense_Mutation_p.D181G|ZNF131_ENST00000509156.1_Missense_Mutation_p.D181G|ZNF131_ENST00000399534.1_Missense_Mutation_p.D181G|ZNF131_ENST00000505606.2_Missense_Mutation_p.D181G|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	181						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAAGTGGAAGATGAAGGCATC	0.448													False	0	False	5:43161521	0	G	43161521	A	G	43161521	3	3	88	1	0	0	0	0	1	0	0	0	17804	333	12	4	556	4	ZNF131	5	43161521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	72	43161521	137753739	5922	13634											
C5orf28	64417	broad.mit.edu	37	chr5	43446488	43446488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatatccacaaaccatgacGaatcccatctcggatatgat	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43446488G>A	ENST00000500337.2	-	5	815	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000512085.1_Missense_Mutation_p.R162C|C5orf28_ENST00000397080.3_Missense_Mutation_p.R162C|C5orf28_ENST00000510130.1_Missense_Mutation_p.R60C|C5orf28_ENST00000537319.1_Missense_Mutation_p.R31C			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	162						integral to membrane		p.R162C(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAACCATGACGAATCCCATCT	0.388													False	0	False	5:43446488	0	A	43446488	G	A	43446488	3	1	88	1	0	0	0	0	1	0	0	0	2306	1058	37	1	167	1	C5orf28	5	43446488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284967	43446488	137468772	5923	13635											
PAIP1	10605	broad.mit.edu	37	chr5	43533874	43533874	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaggaacaccatcagaTgtataaaatgttggttcatt	9	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43533874T>C	ENST00000306846.3	-	9	1450	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	PAIP1_ENST00000436644.2_Silent_p.T327T|PAIP1_ENST00000338972.4_Silent_p.T294T|PAIP1_ENST00000514514.1_Silent_p.T327T	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	406					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CACCATCAGATGTATAAAATG	0.348													False	0	False	5:43533874	0	C	43533874	T	C	43533874	2	2	88	1	0	0	0	0	0	0	0	1	11464	1451	51	4		4	PAIP1	5	43533874	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87386	43533874	137381386	5924	13636											
NNT	23530	broad.mit.edu	37	chr5	43609350	43609350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcgtgtcctctacttaGcaatttggggtcctgtaagg	11	10	1	0	rs12653648		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43609350G>A	ENST00000264663.5	+	2	274	c.53G>A	c.(52-54)aGc>aAc	p.S18N	NNT_ENST00000512996.2_Intron|NNT_ENST00000344920.4_Missense_Mutation_p.S18N	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	18					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CCTCTACTTAGCAATTTGGGG	0.438													False	0	False	5:43609350	0	A	43609350	G	A	43609350	3	1	88	1	0	0	0	0	1	0	0	0	10578	971	34	2	55	2	NNT	5	43609350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75476	43609350	137305910	5925	13637											
NNT	23530	broad.mit.edu	37	chr5	43651986	43651986	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtggttataacattgaacaGgtaagatgctctttgtaagt	10	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43651986G>T	ENST00000264663.5	+	13	2084	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	NNT_ENST00000512996.2_Splice_Site_p.Q490H|NNT_ENST00000344920.4_Splice_Site_p.Q621H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	621					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ACATTGAACAGGTAAGATGCT	0.383													False	0	False	5:43651986	0	T	43651986	G	T	43651986	5	4	88	1	0	0	0	0	0	0	1	0	10578	1014	35	3	1909	3	NNT	5	43651986	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42636	43651986	137263274	5926	13638											
NNT	23530	broad.mit.edu	37	chr5	43659279	43659279	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gattgttgttctagggtgtgActttgacagctgctattggg	14	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43659279A>T	ENST00000264663.5	+	17	2682	c.2461A>T	c.(2461-2463)Act>Tct	p.T821S	NNT_ENST00000512996.2_Missense_Mutation_p.T690S|NNT_ENST00000344920.4_Missense_Mutation_p.T821S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	821					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CTAGGGTGTGACTTTGACAGC	0.423													False	0	False	5:43659279	0	T	43659279	A	T	43659279	3	4	88	1	0	0	0	0	1	0	0	0	10578	275	10	5	2523	5	NNT	5	43659279	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7293	43659279	137255981	5927	13639											
NNT	23530	broad.mit.edu	37	chr5	43702773	43702773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgacactgttaattcagcaGctcaagaagatcccaactct	6	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43702773G>T	ENST00000264663.5	+	21	3267	c.3046G>T	c.(3046-3048)Gct>Tct	p.A1016S	NNT_ENST00000512996.2_Missense_Mutation_p.A885S|NNT_ENST00000344920.4_Missense_Mutation_p.A1016S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1016					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TAATTCAGCAGCTCAAGAAGA	0.343													False	0	False	5:43702773	0	T	43702773	G	T	43702773	3	4	88	1	0	0	0	0	1	0	0	0	10578	971	34	3	3124	3	NNT	5	43702773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43494	43702773	137212487	5928	13640											
MRPS30	10884	broad.mit.edu	37	chr5	44812023	44812023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttttctttaagtttgtgCcattggattattctgttcct	6	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:44812023C>T	ENST00000507110.1	+	3	792	c.754C>T	c.(754-756)Cca>Tca	p.P252S		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	252					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TAAGTTTGTGCCATTGGATTA	0.303													False	0	False	5:44812023	0	T	44812023	C	T	44812023	3	4	88	1	0	0	0	0	1	0	0	0	9907	739	26	2	764	2	MRPS30	5	44812023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1109250	44812023	136103237	5929	13641											
HCN1	348980	broad.mit.edu	37	chr5	45262687	45262687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtgagacaggctggtcGctgtgtacaccggtggagat	16	8	0	2	rs142280884	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45262687G>A	ENST00000303230.4	-	8	2066	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	670						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAGGCTGGTCGCTGTGTACAC	0.587													False	0	False	5:45262687	0	A	45262687	G	A	45262687	3	1	88	1	0	0	0	0	1	0	0	0	7043	1087	38	1	667	1	HCN1	5	45262687	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	450664	45262687	135652573	5930	13642											
HCN1	348980	broad.mit.edu	37	chr5	45262699	45262699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggtcgctgtgtacaccGgtggagattgtgtcctcatg	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45262699G>A	ENST00000303230.4	-	8	2054	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	666						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTGTACACCGGTGGAGATTG	0.577													False	0	False	5:45262699	0	A	45262699	G	A	45262699	3	1	88	1	0	0	0	0	1	0	0	0	7043	1116	39	1	679	1	HCN1	5	45262699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	45262699	135652561	5931	13643											
HCN1	348980	broad.mit.edu	37	chr5	45303919	45303919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattgtagccaccagtttcCgacagttgaagttgactatc	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45303919C>T	ENST00000303230.4	-	6	1457	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	467						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CACCAGTTTCCGACAGTTGAA	0.358													False	0	False	5:45303919	0	T	45303919	C	T	45303919	3	4	88	1	0	0	0	0	1	0	0	0	7043	652	23	1	1284	1	HCN1	5	45303919	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41220	45303919	135611341	5932	13644											
PARP8	79668	broad.mit.edu	37	chr5	50090042	50090042	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attacctttggattgacagaAtcatgcagacatttgttaca	7	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50090042A>T	ENST00000281631.5	+	11	897	c.739A>T	c.(739-741)Atc>Ttc	p.I247F	PARP8_ENST00000514067.2_Splice_Site_p.I247F|PARP8_ENST00000503750.2_Splice_Site_p.I247F|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505554.1_Splice_Site_p.I226F|PARP8_ENST00000505697.2_Splice_Site_p.I247F|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	247						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GATTGACAGAATCATGCAGAC	0.338													False	0	False	5:50090042	0	T	50090042	A	T	50090042	5	4	88	1	0	0	0	0	0	0	1	0	11533	115	4	5	781	5	PARP8	5	50090042	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4786123	50090042	130825218	5933	13645											
PARP8	79668	broad.mit.edu	37	chr5	50091153	50091153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtcatccaaaactgagCttttcaaggaacctaacgca	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50091153C>T	ENST00000281631.5	+	12	1488	c.1330C>T	c.(1330-1332)Ctt>Ttt	p.L444F	PARP8_ENST00000514067.2_Missense_Mutation_p.L444F|PARP8_ENST00000503750.2_Missense_Mutation_p.L444F|PARP8_ENST00000514342.2_Missense_Mutation_p.L197F|PARP8_ENST00000505554.1_Missense_Mutation_p.L423F|PARP8_ENST00000505697.2_Missense_Mutation_p.L444F|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	444						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAAACTGAGCTTTTCAAGGA	0.438													False	0	True	5:50091153	0	T	50091153	C	T	50091153	3	4	88	1	0	0	0	0	1	0	0	0	11533	797	28	2	1376	2	PARP8	5	50091153	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1111	50091153	130824107	5934	13646											
ITGA1	3672	broad.mit.edu	37	chr5	52145208	52145208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctaaagttgttctacGctgctgcgtatcattcaatg	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52145208G>A	ENST00000282588.6	+	2	529	c.71G>A	c.(70-72)cGc>cAc	p.R24H		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	24					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTTGTTCTACGCTGCTGCGTA	0.373													False	0	False	5:52145208	0	A	52145208	G	A	52145208	3	1	88	1	0	0	0	0	1	0	0	0	7922	1087	38	1	77	1	ITGA1	5	52145208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2054055	52145208	128770052	5935	13647											
ITGA1	3672	broad.mit.edu	37	chr5	52160617	52160617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatacatcaattcccaatGtcacagaagtaaaggagaac	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52160617G>A	ENST00000282588.6	+	4	774	c.316G>A	c.(316-318)Gtc>Atc	p.V106I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	106					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATTCCCAATGTCACAGAAGT	0.318													False	0	False	5:52160617	0	A	52160617	G	A	52160617	3	1	88	1	0	0	0	0	1	0	0	0	7922	1377	48	2	330	2	ITGA1	5	52160617	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15409	52160617	128754643	5936	13648											
ITGA1	3672	broad.mit.edu	37	chr5	52214572	52214572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttgtaggtcccgagatGtggccgtagttaaagtgacc	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52214572G>A	ENST00000282588.6	+	16	2457	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	667					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTCCCGAGATGTGGCCGTAGT	0.378													False	0	False	5:52214572	0	A	52214572	G	A	52214572	3	1	88	1	0	0	0	0	1	0	0	0	7922	1377	48	2	2061	2	ITGA1	5	52214572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53955	52214572	128700688	5937	13649											
ITGA1	3672	broad.mit.edu	37	chr5	52218680	52218680	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatccagaaaatgggcctgTtcttgatgattctctaccaa	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52218680T>G	ENST00000282588.6	+	18	2824	c.2366T>G	c.(2365-2367)gTt>gGt	p.V789G		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	789					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATGGGCCTGTTCTTGATGAT	0.338													False	0	False	5:52218680	0	G	52218680	T	G	52218680	3	3	88	1	0	0	0	0	1	0	0	0	7922	1725	60	4	2436	4	ITGA1	5	52218680	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4108	52218680	128696580	5938	13650											
ITGA1	3672	broad.mit.edu	37	chr5	52229781	52229781	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagacagtccctgaagttatTaattctactgaggacattgg	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52229781T>C	ENST00000282588.6	+	23	3377	c.2919T>C	c.(2917-2919)atT>atC	p.I973I	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	973					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTGAAGTTATTAATTCTACTG	0.269													False	0	False	5:52229781	0	C	52229781	T	C	52229781	2	2	88	1	0	0	0	0	0	0	0	1	7922	1742	61	4		4	ITGA1	5	52229781	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11101	52229781	128685479	5939	13651											
ITGA1	3672	broad.mit.edu	37	chr5	52240794	52240794	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catatttttccagcttaaatCttactataaggggagaactt	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52240794C>A	ENST00000282588.6	+	27	3765	c.3307C>A	c.(3307-3309)Ctt>Att	p.L1103I	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1103					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAGCTTAAATCTTACTATAAG	0.328													False	0	False	5:52240794	0	A	52240794	C	A	52240794	3	1	88	1	0	0	0	0	1	0	0	0	7922	913	32	3	3413	3	ITGA1	5	52240794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11013	52240794	128674466	5940	13652											
MOCS2	4338	broad.mit.edu	37	chr5	52396257	52396257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctttttccatatgggcAccttggcttttaaagtatca	6	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52396257A>G	ENST00000396954.3	-	6	1162	c.485T>C	c.(484-486)gTg>gCg	p.V162A	MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000582677.1_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000510818.2_3'UTR	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCATATGGGCACCTTGGCTTT	0.403													False	0	False	5:52396257	0	G	52396257	A	G	52396257	3	3	88	1	0	0	0	0	1	0	0	0	9758	159	6	4	89	4	MOCS2	5	52396257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155463	52396257	128519003	5941	13653											
FST	10468	broad.mit.edu	37	chr5	52778894	52778894	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcccccaactgcatcccCtgtaaaggtaggactccttc	9	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52778894C>T	ENST00000396947.3	+	2	436	c.270C>T	c.(268-270)ccC>ccT	p.P90P	FST_ENST00000256759.3_Silent_p.P90P	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	90	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				ACTGCATCCCCTGTAAAGGTA	0.577											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	5:52778894	0	T	52778894	C	T	52778894	2	4	88	1	0	0	0	0	0	0	0	1	6118	668	24	2		2	FST	5	52778894	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	382637	52778894	128136366	5942	13654											
FST	10468	broad.mit.edu	37	chr5	52779404	52779404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaacaaaccccgctgCgtctgcgccccggattgttc	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52779404C>T	ENST00000396947.3	+	3	514	c.348C>T	c.(346-348)tgC>tgT	p.C116C	FST_ENST00000256759.3_Silent_p.C116C	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	116	Follistatin-like 1.|Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				AACCCCGCTGCGTCTGCGCCC	0.502													False	0	False	5:52779404	0	T	52779404	C	T	52779404	2	4	88	1	0	0	0	0	0	0	0	1	6118	776	27	1		1	FST	5	52779404	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510	52779404	128135856	5943	13655											
SNX18	112574	broad.mit.edu	37	chr5	53814741	53814741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcacttcgactggctgtAcgcgcgcctggcggagaagt	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:53814741A>G	ENST00000343017.6	+	1	1153	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	SNX18_ENST00000381410.4_Missense_Mutation_p.Y320C|SNX18_ENST00000326277.3_Missense_Mutation_p.Y320C	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	320	PX.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GACTGGCTGTACGCGCGCCTG	0.627													False	0	True	5:53814741	0	G	53814741	A	G	53814741	3	3	88	1	0	0	0	0	1	0	0	0	14969	391	14	4	961	4	SNX18	5	53814741	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1035337	53814741	127100519	5944	13656											
SNX18	112574	broad.mit.edu	37	chr5	53815541	53815541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagagacgtggacgcctggGtcttttccctagagtgtaag	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:53815541G>T	ENST00000343017.6	+	1	1953	c.1759G>T	c.(1759-1761)Gtc>Ttc	p.V587F	SNX18_ENST00000381410.4_Intron|SNX18_ENST00000326277.3_Missense_Mutation_p.V587F	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	587	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GGACGCCTGGGTCTTTTCCCT	0.493													False	0	True	5:53815541	0	T	53815541	G	T	53815541	3	4	88	1	0	0	0	0	1	0	0	0	14969	1261	44	3	1761	3	SNX18	5	53815541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	800	53815541	127099719	5945	13657											
GZMK	3003	broad.mit.edu	37	chr5	54327211	54327211	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaaacagccgcaaaacTcaataaacatgtcaagatgc	6	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54327211T>G	ENST00000231009.2	+	4	453	c.383T>G	c.(382-384)cTc>cGc	p.L128R	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	128	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GCCGCAAAACTCAATAAACAT	0.438													False	0	False	5:54327211	0	G	54327211	T	G	54327211	3	3	88	1	0	0	0	0	1	0	0	0	6965	1551	54	4	397	4	GZMK	5	54327211	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	511670	54327211	126588049	5946	13658											
CDC20B	166979	broad.mit.edu	37	chr5	54416252	54416252	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccagaggagatattaaCctgtgagtttgtgcttgggg	14	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54416252C>T	ENST00000334206.5	-	11	1604		c.e11+1		CDC20B_ENST00000381375.2_Splice_Site|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000296733.1_Splice_Site			Q86Y33	CD20B_HUMAN	cell division cycle 20B											kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GAGATATTAACCTGTGAGTTT	0.448													False	0	False	5:54416252	0	T	54416252	C	T	54416252	5	4	88	1	0	0	0	0	0	0	1	0	3083	521	18	2	229	2	CDC20B	5	54416252	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89041	54416252	126499008	5947	13659											
CDC20B	166979	broad.mit.edu	37	chr5	54442668	54442668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaagtcagaatacgtagcaTtaactgaatcgagtacctgt	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54442668T>C	ENST00000334206.5	-	3	319	c.143A>G	c.(142-144)aAt>aGt	p.N48S	CDC20B_ENST00000381375.2_Missense_Mutation_p.N48S|CDC20B_ENST00000322374.6_Missense_Mutation_p.N48S|CDC20B_ENST00000296733.1_Missense_Mutation_p.N48S|CDC20B_ENST00000331730.3_Missense_Mutation_p.N27S			Q86Y33	CD20B_HUMAN	cell division cycle 20B	48										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATACGTAGCATTAACTGAATC	0.428											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	5:54442668	0	C	54442668	T	C	54442668	3	2	88	1	0	0	0	0	1	0	0	0	3083	1493	52	4	1456	4	CDC20B	5	54442668	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26416	54442668	126472592	5948	13660											
CCNO	10309	broad.mit.edu	37	chr5	54527253	54527253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcagatctgaacgggcaGcatgtgagtcaaggaagtac	13	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54527253G>T	ENST00000282572.4	-	3	1159	c.1003C>A	c.(1003-1005)Ctg>Atg	p.L335M		NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	335					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			TGAACGGGCAGCATGTGAGTC	0.582													False	0	False	5:54527253	0	T	54527253	G	T	54527253	3	4	88	1	0	0	0	0	1	0	0	0	2956	962	34	3	53	3	CCNO	5	54527253	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84585	54527253	126388007	5949	13661											
CCNO	10309	broad.mit.edu	37	chr5	54527267	54527267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggcagcatgtgagtcaagGaagtactgtttatggccacc	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54527267G>A	ENST00000282572.4	-	3	1145	c.989C>T	c.(988-990)tCc>tTc	p.S330F		NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O	330					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GTGAGTCAAGGAAGTACTGTT	0.592													False	0	False	5:54527267	0	A	54527267	G	A	54527267	3	1	88	1	0	0	0	0	1	0	0	0	2956	1174	41	2	67	2	CCNO	5	54527267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	54527267	126387993	5950	13662											
SKIV2L2	23517	broad.mit.edu	37	chr5	54674996	54674996	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttggctggggagtagtggtGaatttctcaaaaaagtcaaa	12	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54674996G>T	ENST00000230640.5	+	18	2279	c.2025G>T	c.(2023-2025)gtG>gtT	p.V675V	SKIV2L2_ENST00000545714.1_Silent_p.V574V	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	675					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GAGTAGTGGTGAATTTCTCAA	0.294													False	0	False	5:54674996	0	T	54674996	G	T	54674996	2	4	88	1	0	0	0	0	0	0	0	1	14441	1277	45	3		3	SKIV2L2	5	54674996	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	147729	54674996	126240264	5951	13663											
SKIV2L2	23517	broad.mit.edu	37	chr5	54706447	54706447	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attattaagctgctttgtgtTtcaagagaatgtaagttaat	8	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54706447T>G	ENST00000230640.5	+	23	2995	c.2741T>G	c.(2740-2742)tTt>tGt	p.F914C	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.F813C	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	914					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGCTTTGTGTTTCAAGAGAAT	0.323													False	0	True	5:54706447	0	G	54706447	T	G	54706447	3	3	88	1	0	0	0	0	1	0	0	0	14441	1841	64	4	2831	4	SKIV2L2	5	54706447	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31451	54706447	126208813	5952	13664											
DDX4	54514	broad.mit.edu	37	chr5	55059041	55059041	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcgagataatacatccacaAtgggtggttttggagttgga	13	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55059041A>C	ENST00000505374.1	+	5	336	c.244A>C	c.(244-246)Atg>Ctg	p.M82L	DDX4_ENST00000353507.5_Missense_Mutation_p.M82L|DDX4_ENST00000508580.1_3'UTR|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000354991.5_Missense_Mutation_p.M82L|DDX4_ENST00000514278.2_Missense_Mutation_p.M82L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	82	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TACATCCACAATGGGTGGTTT	0.318													False	0	False	5:55059041	0	C	55059041	A	C	55059041	3	2	88	1	0	0	0	0	1	0	0	0	4385	101	4	4	258	4	DDX4	5	55059041	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	352594	55059041	125856219	5953	13665											
DDX4	54514	broad.mit.edu	37	chr5	55076936	55076936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtatgcagcgcactggtgGcctttttggttctagaagac	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55076936G>A	ENST00000505374.1	+	9	631	c.539G>A	c.(538-540)gGc>gAc	p.G180D	DDX4_ENST00000511853.1_Missense_Mutation_p.G47D|DDX4_ENST00000353507.5_Missense_Mutation_p.G146D|DDX4_ENST00000354991.5_Missense_Mutation_p.G146D|DDX4_ENST00000514278.2_Missense_Mutation_p.G160D	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	180	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CGCACTGGTGGCCTTTTTGGT	0.338													False	0	False	5:55076936	0	A	55076936	G	A	55076936	3	1	88	1	0	0	0	0	1	0	0	0	4385	1203	42	2	610	2	DDX4	5	55076936	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17895	55076936	125838324	5954	13666											
DDX4	54514	broad.mit.edu	37	chr5	55094363	55094363	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaagttggccagttctcaAaaagagaaaagctcgttgaa	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55094363A>C	ENST00000505374.1	+	18	1671	c.1579A>C	c.(1579-1581)Aaa>Caa	p.K527Q	DDX4_ENST00000511853.1_Missense_Mutation_p.K378Q|DDX4_ENST00000353507.5_Missense_Mutation_p.K493Q|DDX4_ENST00000354991.5_Missense_Mutation_p.K493Q|DDX4_ENST00000514278.2_Missense_Mutation_p.K507Q	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	527					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAGTTCTCAAAAAGAGAAAA	0.333													False	0	True	5:55094363	0	C	55094363	A	C	55094363	3	2	88	1	0	0	0	0	1	0	0	0	4385	15	1	4	1686	4	DDX4	5	55094363	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17427	55094363	125820897	5955	13667											
DDX4	54514	broad.mit.edu	37	chr5	55110988	55110988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagcacagcctctagtaaaaGtattgacagatgtaagttaa	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55110988G>T	ENST00000505374.1	+	20	2067	c.1975G>T	c.(1975-1977)Gta>Tta	p.V659L	DDX4_ENST00000511853.1_Missense_Mutation_p.V510L|DDX4_ENST00000353507.5_Missense_Mutation_p.V625L|DDX4_ENST00000354991.5_Missense_Mutation_p.V625L|DDX4_ENST00000514278.2_Missense_Mutation_p.V639L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	659	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTAGTAAAAGTATTGACAGA	0.348													False	0	True	5:55110988	0	T	55110988	G	T	55110988	3	4	88	1	0	0	0	0	1	0	0	0	4385	1029	36	3	2090	3	DDX4	5	55110988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16625	55110988	125804272	5956	13668											
IL31RA	133396	broad.mit.edu	37	chr5	55203234	55203234	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatctctgtgtatccaatgTtgcatgacaaagttggcgag	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55203234T>G	ENST00000396834.1	+	12	1739	c.1243T>G	c.(1243-1245)Ttg>Gtg	p.L415V	IL31RA_ENST00000490985.1_Missense_Mutation_p.L292V|IL31RA_ENST00000297015.3_Missense_Mutation_p.L292V|IL31RA_ENST00000359040.5_Missense_Mutation_p.L434V|IL31RA_ENST00000447346.2_Missense_Mutation_p.L434V|IL31RA_ENST00000354961.4_Missense_Mutation_p.L415V|IL31RA_ENST00000396836.2_Missense_Mutation_p.L434V	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	402	Fibronectin type-III 4.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTATCCAATGTTGCATGACAA	0.438													False	0	False	5:55203234	0	G	55203234	T	G	55203234	3	3	88	1	0	0	0	0	1	0	0	0	7741	1722	60	4	1338	4	IL31RA	5	55203234	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	92246	55203234	125712026	5957	13669											
IL6ST	3572	broad.mit.edu	37	chr5	55237234	55237234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtttgaagtactgttgCctgggcaaaataccatcacc	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55237234C>T	ENST00000381298.2	-	17	2745	c.2433G>A	c.(2431-2433)agG>agA	p.R811R	IL6ST_ENST00000502326.3_Silent_p.R811R|IL6ST_ENST00000381294.3_Silent_p.R750R|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000336909.5_Silent_p.R811R	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	811					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTACTGTTGCCTGGGCAAAA	0.433			O		hepatocellular ca								False	0	False	5:55237234	0	T	55237234	C	T	55237234	2	4	88	1	0	0	0	0	0	0	0	1	7753	738	26	2		2	IL6ST	5	55237234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34000	55237234	125678026	5958	13670											
IL6ST	3572	broad.mit.edu	37	chr5	55237336	55237336	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgggtagactcggatcttgaGaagacttggactgacggaac	14	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55237336G>A	ENST00000381298.2	-	17	2643	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	IL6ST_ENST00000502326.3_Silent_p.F777F|IL6ST_ENST00000381294.3_Silent_p.F716F|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000336909.5_Silent_p.F777F	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	777					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CGGATCTTGAGAAGACTTGGA	0.463			O		hepatocellular ca								False	0	False	5:55237336	0	A	55237336	G	A	55237336	2	1	88	1	0	0	0	0	0	0	0	1	7753	933	33	2		2	IL6ST	5	55237336	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102	55237336	125677924	5959	13671											
IL6ST	3572	broad.mit.edu	37	chr5	55247894	55247894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccgaacagtaggtcctTtggaaggtgctgtaacagag	13	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55247894T>C	ENST00000381298.2	-	13	1874	c.1562A>G	c.(1561-1563)aAa>aGa	p.K521R	IL6ST_ENST00000502326.3_Missense_Mutation_p.K521R|IL6ST_ENST00000381294.3_Missense_Mutation_p.K460R|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.K521R	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	521	Fibronectin type-III 5.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTAGGTCCTTTGGAAGGTGC	0.343			O		hepatocellular ca								False	0	True	5:55247894	0	C	55247894	T	C	55247894	3	2	88	1	0	0	0	0	1	0	0	0	7753	1841	64	4	1214	4	IL6ST	5	55247894	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10558	55247894	125667366	5960	13672											
IL6ST	3572	broad.mit.edu	37	chr5	55260120	55260120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacgttttgctttgcaaTcagcaaacttgtgtgttgcc	9	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55260120T>C	ENST00000381298.2	-	6	824	c.512A>G	c.(511-513)gAt>gGt	p.D171G	IL6ST_ENST00000502326.3_Missense_Mutation_p.D171G|IL6ST_ENST00000381294.3_Missense_Mutation_p.D171G|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000396816.1_Missense_Mutation_p.I29V|IL6ST_ENST00000522633.2_Missense_Mutation_p.D171G|IL6ST_ENST00000536319.1_Missense_Mutation_p.D171G|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000577363.1_5'UTR|IL6ST_ENST00000381287.4_Missense_Mutation_p.D171G|IL6ST_ENST00000336909.5_Missense_Mutation_p.D171G	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	171	Fibronectin type-III 1.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGCTTTGCAATCAGCAAACTT	0.358			O		hepatocellular ca								False	0	False	5:55260120	0	C	55260120	T	C	55260120	3	2	88	1	0	0	0	0	1	0	0	0	7753	1435	50	4	2292	4	IL6ST	5	55260120	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12226	55260120	125655140	5961	13673											
IL6ST	3572	broad.mit.edu	37	chr5	55264223	55264223	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttaggtttttctggaggCactaaaagggattaattagc	10	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55264223C>A	ENST00000381298.2	-	5	684	c.372G>T	c.(370-372)ttG>ttT	p.L124F	IL6ST_ENST00000502326.3_Splice_Site_p.L124F|IL6ST_ENST00000381294.3_Splice_Site_p.L124F|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000522633.2_Splice_Site_p.L124F|IL6ST_ENST00000536319.1_Splice_Site_p.L124F|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381287.4_Splice_Site_p.L124F|IL6ST_ENST00000336909.5_Splice_Site_p.L124F	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	124					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTCTGGAGGCACTAAAAGGG	0.368			O		hepatocellular ca								False	0	False	5:55264223	0	A	55264223	C	A	55264223	5	1	88	1	0	0	0	0	0	0	1	0	7753	724	25	3	2436	3	IL6ST	5	55264223	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4103	55264223	125651037	5962	13674											
ANKRD55	79722	broad.mit.edu	37	chr5	55407022	55407022	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggccggacactgagcaatCtgtccagcagcttatcagaa	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55407022C>T	ENST00000341048.4	-	10	1704	c.1553G>A	c.(1552-1554)aGa>aAa	p.R518K	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R475K|ANKRD55_ENST00000434982.2_Missense_Mutation_p.R230K	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	517										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ACTGAGCAATCTGTCCAGCAG	0.468													False	0	False	5:55407022	0	T	55407022	C	T	55407022	3	4	88	1	0	0	0	0	1	0	0	0	681	913	32	2	303	2	ANKRD55	5	55407022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142799	55407022	125508238	5963	13675											
MAP3K1	4214	broad.mit.edu	37	chr5	56155658	56155658	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttccaaaggccgacgcagTccttctcctggcaactcccc	8	18	1	0	rs67178207		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56155658T>C	ENST00000399503.3	+	3	750	c.750T>C	c.(748-750)agT>agC	p.S250S	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	250					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCCGACGCAGTCCTTCTCCTG	0.498													False	0	False	5:56155658	0	C	56155658	T	C	56155658	2	2	88	1	0	0	0	0	0	0	0	1	9310	1664	58	4		4	MAP3K1	5	56155658	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	748636	56155658	124759602	5964	13676											
MAP3K1	4214	broad.mit.edu	37	chr5	56171053	56171053	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggtcttcccagaccagtatCtcaggagatgtggtggaggc	15	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56171053C>A	ENST00000399503.3	+	10	1881	c.1881C>A	c.(1879-1881)atC>atA	p.I627I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	627					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGACCAGTATCTCAGGAGATG	0.547													False	0	False	5:56171053	0	A	56171053	C	A	56171053	2	1	88	1	0	0	0	0	0	0	0	1	9310	903	32	3		3	MAP3K1	5	56171053	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15395	56171053	124744207	5965	13677											
MAP3K1	4214	broad.mit.edu	37	chr5	56177726	56177726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctggaaaccacagagaacaGttcccctgagtgcacagtcc	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56177726G>T	ENST00000399503.3	+	14	2699	c.2699G>T	c.(2698-2700)aGt>aTt	p.S900I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	900				DGQQDSFLQASVPNNYLETTENSSP -> QRQQHNSFCRHL FPTTIWKPQRTVPL (in Ref. 2; AAC97073).	cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACAGAGAACAGTTCCCCTGAG	0.473													False	0	False	5:56177726	0	T	56177726	G	T	56177726	3	4	88	1	0	0	0	0	1	0	0	0	9310	1029	36	3	2753	3	MAP3K1	5	56177726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6673	56177726	124737534	5966	13678											
MAP3K1	4214	broad.mit.edu	37	chr5	56177918	56177918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaaaaggcagaccccacaGtcagtgtttgaactcctctc	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56177918G>T	ENST00000399503.3	+	14	2891	c.2891G>T	c.(2890-2892)aGt>aTt	p.S964I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	964					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGACCCCACAGTCAGTGTTTG	0.453													False	0	True	5:56177918	0	T	56177918	G	T	56177918	3	4	88	1	0	0	0	0	1	0	0	0	9310	1029	36	3	2945	3	MAP3K1	5	56177918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192	56177918	124737342	5967	13679											
MAP3K1	4214	broad.mit.edu	37	chr5	56181885	56181885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatcattcacagagatgTcaaaggtgagaattcttcta	7	8	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56181885T>C	ENST00000399503.3	+	17	4109	c.4109T>C	c.(4108-4110)gTc>gCc	p.V1370A		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1370	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CACAGAGATGTCAAAGGTGAG	0.363													False	0	False	5:56181885	0	C	56181885	T	C	56181885	3	2	88	1	0	0	0	0	1	0	0	0	9310	1667	58	4	4175	4	MAP3K1	5	56181885	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3967	56181885	124733375	5968	13680											
MIER3	166968	broad.mit.edu	37	chr5	56224611	56224611	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taccttattcttctgtataaGatgaaaatcttttccaaaaa	3	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56224611G>A	ENST00000381226.3	-	10	937	c.922C>T	c.(922-924)Ctt>Ttt	p.L308F	MIER3_ENST00000409421.1_Missense_Mutation_p.L240F|MIER3_ENST00000381213.3_Missense_Mutation_p.L302F|MIER3_ENST00000381199.3_Missense_Mutation_p.L303F|CTD-2310F14.1_ENST00000606813.1_RNA			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	303	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TTCTGTATAAGATGAAAATCT	0.303													False	0	False	5:56224611	0	A	56224611	G	A	56224611	3	1	88	1	0	0	0	0	1	0	0	0	9649	942	33	2	761	2	MIER3	5	56224611	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42726	56224611	124690649	5969	13681											
ACTBL2	345651	broad.mit.edu	37	chr5	56778460	56778460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacagcccggggggcatcGtcaccaccaaagcctgcctt	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56778460G>A	ENST00000423391.1	-	1	176	c.75C>T	c.(73-75)gaC>gaT	p.D25D	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	25						cytoplasm|cytoskeleton	ATP binding	p.D25D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGGGGGCATCGTCACCACCAA	0.582													False	0	False	5:56778460	0	A	56778460	G	A	56778460	2	1	88	1	0	0	0	0	0	0	0	1	194	1136	40	1		1	ACTBL2	5	56778460	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	553849	56778460	124136800	5970	13682											
PLK2	10769	broad.mit.edu	37	chr5	57753328	57753328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttacattacacagcccaGggcccaaatgtctgattcac	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:57753328G>A	ENST00000274289.3	-	6	1096	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	266	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACACAGCCCAGGGCCCAAATG	0.368													False	0	True	5:57753328	0	A	57753328	G	A	57753328	2	1	88	1	0	0	0	0	0	0	0	1	12165	991	35	2		2	PLK2	5	57753328	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	974868	57753328	123161932	5971	13683											
GAPT	202309	broad.mit.edu	37	chr5	57790515	57790515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtttttacaaaggagaaGcagcaggagaaaagtctgta	13	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:57790515G>A	ENST00000396776.2	+	3	614	c.152G>A	c.(151-153)aGc>aAc	p.S51N	GAPT_ENST00000318469.2_Missense_Mutation_p.S51N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	51					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CAAAGGAGAAGCAGCAGGAGA	0.448													False	0	False	5:57790515	0	A	57790515	G	A	57790515	3	1	88	1	0	0	0	0	1	0	0	0	6281	971	34	2	154	2	GAPT	5	57790515	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37187	57790515	123124745	5972	13684											
PDE4D	5144	broad.mit.edu	37	chr5	58270553	58270554	+	Frame_Shift_Ins	INS	-	-	A													tggctttcctcttcttccccINStactgcctcctcttcaacct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58270553_58270554insA	ENST00000340635.6	-	15	2542_2543	c.2367_2368insT	c.(2365-2370)gtagggfs	p.G790fs	PDE4D_ENST00000503258.1_Frame_Shift_Ins_p.G660fs|PDE4D_ENST00000507116.1_Frame_Shift_Ins_p.G726fs|PDE4D_ENST00000502484.2_Frame_Shift_Ins_p.G729fs|PDE4D_ENST00000358923.6_Frame_Shift_Ins_p.G488fs|PDE4D_ENST00000546160.1_Frame_Shift_Ins_p.G729fs|PDE4D_ENST00000405755.2_Frame_Shift_Ins_p.G668fs|PDE4D_ENST00000317118.8_Frame_Shift_Ins_p.G499fs|PDE4D_ENST00000360047.5_Frame_Shift_Ins_p.G654fs	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	790					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TCTTCTTCCCCTACTGCCTCCT	0.436													False	0	True	5:58270553	0	A	58270554	-	A	58270553	7	5	88	1	0	1	1	0	0	0	0	0	11710	681	24	0	65	0	PDE4D	5	58270553	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	480038	58270553	122644707	5973	13685											
PDE4D	5144	broad.mit.edu	37	chr5	58285692	58285692	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggtcttcgagagtcataaGatatgtaattaaagtatcta	8	4	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58285692G>T	ENST00000340635.6	-	10	1517	c.1342C>A	c.(1342-1344)Ctt>Att	p.L448I	PDE4D_ENST00000405755.2_Missense_Mutation_p.L326I|PDE4D_ENST00000358923.6_Missense_Mutation_p.L146I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L384I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L312I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L318I|PDE4D_ENST00000317118.8_Missense_Mutation_p.L157I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L387I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L387I	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	448					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AGAGTCATAAGATATGTAATT	0.333													False	0	False	5:58285692	0	T	58285692	G	T	58285692	3	4	88	1	0	0	0	0	1	0	0	0	11710	942	33	3	1111	3	PDE4D	5	58285692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15139	58285692	122629568	5974	13686											
PDE4D	5144	broad.mit.edu	37	chr5	58511691	58511691	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacaggaaggactcccgtcGttgactgtggacaaaatttg	11	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58511691G>A	ENST00000340635.6	-	2	734	c.559C>T	c.(559-561)Cga>Tga	p.R187*	PDE4D_ENST00000405755.2_Nonsense_Mutation_p.R65*|PDE4D_ENST00000507116.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000502575.1_Nonsense_Mutation_p.R123*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.R51*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.R57*|PDE4D_ENST00000502484.2_Nonsense_Mutation_p.R126*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.R126*|PDE4D_ENST00000503947.1_5'UTR	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	187					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GACTCCCGTCGTTGACTGTGG	0.517													False	0	False	5:58511691	0	A	58511691	G	A	58511691	4	1	88	1	0	0	0	0	0	1	0	0	11710	1153	40	1	1926	1	PDE4D	5	58511691	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225999	58511691	122403569	5975	13687											
PDE4D	5144	broad.mit.edu	37	chr5	59064094	59064094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtatgtgccaccgtgaaaCgccgctgtttggggatgttg	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:59064094C>T	ENST00000507116.1	-	1	377	c.242G>A	c.(241-243)cGt>cAt	p.R81H	PDE4D_ENST00000502575.1_Missense_Mutation_p.R81H|PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000546160.1_Intron	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CACCGTGAAACGCCGCTGTTT	0.542													False	0	True	5:59064094	0	T	59064094	C	T	59064094	3	4	88	1	0	0	0	0	1	0	0	0	11710	551	19	1		1	PDE4D	5	59064094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	552403	59064094	121851166	5976	13688											
DEPDC1B	55789	broad.mit.edu	37	chr5	59940639	59940639	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acattatggatgatgaacttCgaattgacaagtttgacgtc	9	6	0	4	rs141096982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:59940639C>T	ENST00000265036.5	-	5	709	c.642G>A	c.(640-642)tcG>tcA	p.S214S	DEPDC1B_ENST00000453022.2_Silent_p.S214S|DEPDC1B_ENST00000545085.1_Silent_p.S187S	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	214	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TGATGAACTTCGAATTGACAA	0.303													False	0	False	5:59940639	0	T	59940639	C	T	59940639	2	4	88	1	0	0	0	0	0	0	0	1	4470	871	31	1		1	DEPDC1B	5	59940639	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	876545	59940639	120974621	5977	13689											
ELOVL7	79993	broad.mit.edu	37	chr5	60053435	60053435	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatacatgactacatgtacAgctgtatttagaagggcatg	10	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:60053435A>G	ENST00000505959.1	-	10	1024	c.498T>C	c.(496-498)gcT>gcC	p.A166A	ELOVL7_ENST00000425382.1_Silent_p.A179A|ELOVL7_ENST00000438340.1_Silent_p.A179A|ELOVL7_ENST00000508821.1_Silent_p.A179A			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	179					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				CTACATGTACAGCTGTATTTA	0.383													False	0	False	5:60053435	0	G	60053435	A	G	60053435	2	3	88	1	0	0	0	0	0	0	0	1	5111	175	7	4		4	ELOVL7	5	60053435	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112796	60053435	120861825	5978	13690											
HTR1A	3350	broad.mit.edu	37	chr5	63256399	63256399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccagccaattgattatgGcgcccaacagggtgggcatg	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:63256399G>A	ENST00000323865.3	-	1	1381	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	383					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ATTGATTATGGCGCCCAACAG	0.507													False	0	False	5:63256399	0	A	63256399	G	A	63256399	3	1	88	1	0	0	0	0	1	0	0	0	7486	1203	42	2	123	2	HTR1A	5	63256399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3202964	63256399	117658861	5979	13691											
HTR1A	3350	broad.mit.edu	37	chr5	63256774	63256774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctccagttcctgctccccGactctccattcacactcttc	4	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:63256774G>A	ENST00000323865.3	-	1	1006	c.773C>T	c.(772-774)tCg>tTg	p.S258L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	258					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.S258L(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCTGCTCCCCGACTCTCCATT	0.657													False	0	True	5:63256774	0	A	63256774	G	A	63256774	3	1	88	1	0	0	0	0	1	0	0	0	7486	1059	37	1	498	1	HTR1A	5	63256774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	375	63256774	117658486	5980	13692											
CWC27	10283	broad.mit.edu	37	chr5	64081400	64081400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccacacaaaataaaaagCtgtgaggtaggagcatgatt	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64081400C>T	ENST00000508024.1	+	5	690	c.489C>T	c.(487-489)agC>agT	p.S163S	CWC27_ENST00000381070.3_Silent_p.S163S			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	163	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAATAAAAAGCTGTGAGGTAG	0.343													False	0	False	5:64081400	0	T	64081400	C	T	64081400	2	4	88	1	0	0	0	0	0	0	0	1	4095	796	28	2		2	CWC27	5	64081400	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	824626	64081400	116833860	5981	13693											
CWC27	10283	broad.mit.edu	37	chr5	64084809	64084809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactttcatttggagaggaaGctgaggaagaagaggaggaa	15	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64084809G>A	ENST00000508024.1	+	7	832	c.631G>A	c.(631-633)Gct>Act	p.A211T	CWC27_ENST00000381070.3_Missense_Mutation_p.A211T			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	211					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TGGAGAGGAAGCTGAGGAAGA	0.308													False	0	False	5:64084809	0	A	64084809	G	A	64084809	3	1	88	1	0	0	0	0	1	0	0	0	4095	971	34	2	657	2	CWC27	5	64084809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3409	64084809	116830451	5982	13694											
ADAMTS6	11174	broad.mit.edu	37	chr5	64766794	64766794	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgaaagtgcttgccataGgctgaaagtttaaaaaataa	9	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64766794G>T	ENST00000536360.1	-	3	1086	c.273C>A	c.(271-273)gcC>gcA	p.A91A				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	91					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GCTTGCCATAGGCTGAAAGTT	0.393													False	0	False	5:64766794	0	T	64766794	G	T	64766794	2	4	88	1	0	0	0	0	0	0	0	1	270	987	35	3		3	ADAMTS6	5	64766794	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	681985	64766794	116148466	5983	13695											
PPWD1	23398	broad.mit.edu	37	chr5	64863418	64863418	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttacatgcatagagatgTtatcacccatgtggtatgca	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64863418T>G	ENST00000261308.5	+	2	347	c.275T>G	c.(274-276)gTt>gGt	p.V92G	PPWD1_ENST00000535264.1_Missense_Mutation_p.V62G|PPWD1_ENST00000538977.1_Intron	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	92					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		CATAGAGATGTTATCACCCAT	0.328													False	0	False	5:64863418	0	G	64863418	T	G	64863418	3	3	88	1	0	0	0	0	1	0	0	0	12488	1725	60	4	281	4	PPWD1	5	64863418	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96624	64863418	116051842	5984	13696											
NLN	57486	broad.mit.edu	37	chr5	65084251	65084251	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagagtgttacactttataCtgtgaaggataaagctacag	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65084251C>A	ENST00000380985.5	+	8	1443	c.1265C>A	c.(1264-1266)aCt>aAt	p.T422N	NLN_ENST00000502464.1_Missense_Mutation_p.T318N	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	422					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ACACTTTATACTGTGAAGGAT	0.433													False	0	False	5:65084251	0	A	65084251	C	A	65084251	3	1	88	1	0	0	0	0	1	0	0	0	10535	565	20	3	1295	3	NLN	5	65084251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220833	65084251	115831009	5985	13697											
ERBB2IP	55914	broad.mit.edu	37	chr5	65324108	65324108	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttttcctacagattaaaGaatttaccctttagctttac	3	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65324108G>T	ENST00000284037.5	+	14	1532	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.K381N|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.K381N|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.K381N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	381					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ACAGATTAAAGAATTTACCCT	0.303													False	0	True	5:65324108	0	T	65324108	G	T	65324108	3	4	88	1	0	0	0	0	1	0	0	0	5239	933	33	3	1189	3	ERBB2IP	5	65324108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	239857	65324108	115591152	5986	13698											
ERBB2IP	55914	broad.mit.edu	37	chr5	65350624	65350624	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagagaactatgtcagttAgtgatttcaattattcacgg	9	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65350624A>C	ENST00000284037.5	+	21	3867	c.3478A>C	c.(3478-3480)Agt>Cgt	p.S1160R	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S1156R|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S1160R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S1160R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1160					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TATGTCAGTTAGTGATTTCAA	0.403													False	0	False	5:65350624	0	C	65350624	A	C	65350624	3	2	88	1	0	0	0	0	1	0	0	0	5239	420	15	4	3552	4	ERBB2IP	5	65350624	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26516	65350624	115564636	5987	13699											
ERBB2IP	55914	broad.mit.edu	37	chr5	65371060	65371060	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaactggcaaaacaagaggTaagaataatcaagactattt	8	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65371060T>C	ENST00000284037.5	+	23	4352		c.e23+2		ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380943.2_Splice_Site|ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000511297.1_Splice_Site|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000380939.2_Splice_Site	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein						basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AAACAAGAGGTAAGAATAATC	0.348													False	0	False	5:65371060	0	C	65371060	T	C	65371060	5	2	88	1	0	0	0	0	0	0	1	0	5239	1652	57	4	3920	4	ERBB2IP	5	65371060	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20436	65371060	115544200	5988	13700											
MAST4	375449	broad.mit.edu	37	chr5	66084525	66084525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttccaaacccggtggCgggacaggcctggccggcct	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66084525C>T	ENST00000404260.3	+	3	853	c.545C>T	c.(544-546)gCg>gTg	p.A182V	MAST4_ENST00000403625.2_Missense_Mutation_p.A182V|MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000406039.1_Missense_Mutation_p.A182V|MAST4_ENST00000406374.1_Missense_Mutation_p.A182V			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	182						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCCGGTGGCGGGACAGGCC	0.627													False	0	True	5:66084525	0	T	66084525	C	T	66084525	3	4	88	1	0	0	0	0	1	0	0	0	9394	768	27	1	555	1	MAST4	5	66084525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	713465	66084525	114830735	5989	13701											
MAST4	375449	broad.mit.edu	37	chr5	66084569	66084569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagacgtccaacctcgtgCgcatgcgcagccaggccctg	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66084569C>T	ENST00000404260.3	+	3	897	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	MAST4_ENST00000403625.2_Missense_Mutation_p.R197C|MAST4_ENST00000406039.1_Missense_Mutation_p.R197C|MAST4_ENST00000406374.1_Missense_Mutation_p.R197C			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	197						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAACCTCGTGCGCATGCGCAG	0.657													False	0	True	5:66084569	0	T	66084569	C	T	66084569	3	4	88	1	0	0	0	0	1	0	0	0	9394	768	27	1	599	1	MAST4	5	66084569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	66084569	114830691	5990	13702											
MAST4	375449	broad.mit.edu	37	chr5	66432472	66432472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttactcctcaggcagaatcCcctggagaggctgggaacag	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66432472C>T	ENST00000404260.3	+	19	2791	c.2483C>T	c.(2482-2484)cCc>cTc	p.P828L	MAST4_ENST00000261569.7_Missense_Mutation_p.P631L|MAST4_ENST00000405643.1_Missense_Mutation_p.P646L|MAST4_ENST00000403625.2_Missense_Mutation_p.P825L|MAST4_ENST00000403666.1_Missense_Mutation_p.P636L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	828	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGGCAGAATCCCCTGGAGAGG	0.458													False	0	True	5:66432472	0	T	66432472	C	T	66432472	3	4	88	1	0	0	0	0	1	0	0	0	9394	623	22	2	2678	2	MAST4	5	66432472	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347903	66432472	114482788	5991	13703											
MAST4	375449	broad.mit.edu	37	chr5	66448536	66448536	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggacccttcttcttcaCgagattcctctcccagccga	6	18	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66448536C>T	ENST00000404260.3	+	25	3684	c.3376C>T	c.(3376-3378)Cga>Tga	p.R1126*	MAST4_ENST00000261569.7_Nonsense_Mutation_p.R929*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.R944*|MAST4_ENST00000403625.2_Nonsense_Mutation_p.R1123*|MAST4_ENST00000403666.1_Nonsense_Mutation_p.R934*			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1126	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTCTTCTTCACGAGATTCCTC	0.522													False	0	False	5:66448536	0	T	66448536	C	T	66448536	4	4	88	1	0	0	0	0	0	1	0	0	9394	528	19	1	3595	1	MAST4	5	66448536	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16064	66448536	114466724	5992	13704											
MAST4	375449	broad.mit.edu	37	chr5	66459843	66459843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcttcacaagcaggccagCgtgcgcgccagcgagggtgc	15	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66459843C>T	ENST00000404260.3	+	29	5153	c.4845C>T	c.(4843-4845)agC>agT	p.S1615S	MAST4_ENST00000261569.7_Silent_p.S1418S|MAST4_ENST00000405643.1_Silent_p.S1433S|MAST4_ENST00000403625.2_Silent_p.S1612S|MAST4_ENST00000403666.1_Silent_p.S1423S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1615						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCAGGCCAGCGTGCGCGCCA	0.657													False	0	False	5:66459843	0	T	66459843	C	T	66459843	2	4	88	1	0	0	0	0	0	0	0	1	9394	767	27	1		1	MAST4	5	66459843	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11307	66459843	114455417	5993	13705											
MAST4	375449	broad.mit.edu	37	chr5	66460375	66460375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcccctccgagtataagCtggaaggtaggtctgtctca	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66460375C>T	ENST00000404260.3	+	29	5685	c.5377C>T	c.(5377-5379)Ctg>Ttg	p.L1793L	MAST4_ENST00000261569.7_Silent_p.L1596L|MAST4_ENST00000405643.1_Silent_p.L1611L|MAST4_ENST00000403625.2_Silent_p.L1790L|MAST4_ENST00000403666.1_Silent_p.L1601L			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1793						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGAGTATAAGCTGGAAGGTAG	0.592													False	0	False	5:66460375	0	T	66460375	C	T	66460375	2	4	88	1	0	0	0	0	0	0	0	1	9394	796	28	2		2	MAST4	5	66460375	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	532	66460375	114454885	5994	13706											
MAST4	375449	broad.mit.edu	37	chr5	66461256	66461256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcgtggaacccaagccCgaagcgcttcttgccaggcg	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461256C>T	ENST00000404260.3	+	29	6566	c.6258C>T	c.(6256-6258)ccC>ccT	p.P2086P	MAST4_ENST00000261569.7_Silent_p.P1889P|MAST4_ENST00000405643.1_Silent_p.P1904P|MAST4_ENST00000403625.2_Silent_p.P2083P|MAST4_ENST00000403666.1_Silent_p.P1894P			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2086						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCCAAGCCCGAAGCGCTTC	0.582													False	0	True	5:66461256	0	T	66461256	C	T	66461256	2	4	88	1	0	0	0	0	0	0	0	1	9394	639	23	1		1	MAST4	5	66461256	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	881	66461256	114454004	5995	13707											
MAST4	375449	broad.mit.edu	37	chr5	66461635	66461635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagactaagcaccccgacCggtccctctcctctcagaaa	6	17	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461635C>T	ENST00000404260.3	+	29	6945	c.6637C>T	c.(6637-6639)Cgg>Tgg	p.R2213W	MAST4_ENST00000261569.7_Missense_Mutation_p.R2016W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2031W|MAST4_ENST00000403625.2_Missense_Mutation_p.R2210W|MAST4_ENST00000403666.1_Missense_Mutation_p.R2021W			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2213						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCACCCCGACCGGTCCCTCTC	0.647													False	0	False	5:66461635	0	T	66461635	C	T	66461635	3	4	88	1	0	0	0	0	1	0	0	0	9394	643	23	1	6872	1	MAST4	5	66461635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	379	66461635	114453625	5996	13708											
MAST4	375449	broad.mit.edu	37	chr5	66461935	66461935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgccaaggccgggacacCcagggcctagtgagccagcg	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461935C>T	ENST00000404260.3	+	29	7245	c.6937C>T	c.(6937-6939)Cca>Tca	p.P2313S	MAST4_ENST00000261569.7_Missense_Mutation_p.P2116S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2131S|MAST4_ENST00000403625.2_Missense_Mutation_p.P2310S|MAST4_ENST00000403666.1_Missense_Mutation_p.P2121S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2313						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCGGGACACCCAGGGCCTAG	0.602											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	5:66461935	0	T	66461935	C	T	66461935	3	4	88	1	0	0	0	0	1	0	0	0	9394	623	22	2	7172	2	MAST4	5	66461935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	300	66461935	114453325	5997	13709											
MAST4	375449	broad.mit.edu	37	chr5	66462832	66462832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgtggtacggcagaggCgggggaaagagagtttgcgt	18	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66462832C>T	ENST00000404260.3	+	29	8142	c.7834C>T	c.(7834-7836)Cgg>Tgg	p.R2612W	MAST4_ENST00000261569.7_Missense_Mutation_p.R2415W|MAST4_ENST00000405643.1_Missense_Mutation_p.R2430W|MAST4_ENST00000403625.2_Missense_Mutation_p.R2609W|MAST4_ENST00000403666.1_Missense_Mutation_p.R2420W			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2612						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACGGCAGAGGCGGGGGAAAGA	0.592													False	0	True	5:66462832	0	T	66462832	C	T	66462832	3	4	88	1	0	0	0	0	1	0	0	0	9394	759	27	1	8069	1	MAST4	5	66462832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	897	66462832	114452428	5998	13710											
PIK3R1	5295	broad.mit.edu	37	chr5	67575507	67575507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgctatctcctggacttaCcaaatcctgtcattccagca	5	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:67575507C>T	ENST00000521381.1	+	5	1196	c.580C>T	c.(580-582)Cca>Tca	p.P194S	PIK3R1_ENST00000396611.1_Missense_Mutation_p.P194S|PIK3R1_ENST00000521657.1_Missense_Mutation_p.P194S|PIK3R1_ENST00000274335.5_Missense_Mutation_p.P194S	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	194	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CCTGGACTTACCAAATCCTGT	0.413			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			False	0	False	5:67575507	0	T	67575507	C	T	67575507	3	4	88	1	0	0	0	0	1	0	0	0	11987	507	18	2	594	2	PIK3R1	5	67575507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1112675	67575507	113339753	5999	13711											
MRPS36	92259	broad.mit.edu	37	chr5	68524042	68524042	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcagtatcagaagctttgaGatcagcagggctaccatctc	9	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68524042G>T	ENST00000256441.4	+	3	192	c.122G>T	c.(121-123)aGa>aTa	p.R41I	MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000512880.1_5'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	41					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		GAAGCTTTGAGATCAGCAGGG	0.338													False	0	False	5:68524042	0	T	68524042	G	T	68524042	3	4	88	1	0	0	0	0	1	0	0	0	9912	942	33	3	132	3	MRPS36	5	68524042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	948535	68524042	112391218	6000	13712											
MRPS36	92259	broad.mit.edu	37	chr5	68524106	68524106	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaaaggaagtaaatcaccAgatttgctgatgtatcaggg	10	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68524106A>G	ENST00000256441.4	+	3	256	c.186A>G	c.(184-186)ccA>ccG	p.P62P	MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000512880.1_5'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	62					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		GTAAATCACCAGATTTGCTGA	0.353													False	0	False	5:68524106	0	G	68524106	A	G	68524106	2	3	88	1	0	0	0	0	0	0	0	1	9912	175	7	4		4	MRPS36	5	68524106	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64	68524106	112391154	6001	13713											
CDK7	1022	broad.mit.edu	37	chr5	68572463	68572463	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggaaaccttaaaggagCaatcaaatccagctttggca	9	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68572463C>T	ENST00000502604.1	+	10	1169	c.679C>T	c.(679-681)Caa>Taa	p.Q227*	CDK7_ENST00000256443.3_Nonsense_Mutation_p.Q320*|CDK7_ENST00000514676.1_Nonsense_Mutation_p.Q283*			P50613	CDK7_HUMAN	cyclin-dependent kinase 7	320	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		CTTAAAGGAGCAATCAAATCC	0.388								Nucleotide excision repair (NER)					False	0	False	5:68572463	0	T	68572463	C	T	68572463	4	4	88	1	0	0	0	0	0	1	0	0	3172	711	25	2	1000	2	CDK7	5	68572463	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48357	68572463	112342797	6002	13714											
BDP1	55814	broad.mit.edu	37	chr5	70785502	70785502	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttctaaaggagaaaaAcacaagagtaagtttcttac	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70785502A>C	ENST00000358731.4	+	10	1748	c.1485A>C	c.(1483-1485)aaA>aaC	p.K495N	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	495					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGAGAAAAACACAAGAGTA	0.348													False	0	True	5:70785502	0	C	70785502	A	C	70785502	3	2	88	1	0	0	0	0	1	0	0	0	1399	40	2	4	1523	4	BDP1	5	70785502	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2213039	70785502	110129758	6003	13715											
BDP1	55814	broad.mit.edu	37	chr5	70793140	70793140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaaaccaatgttgagaggtCgcttccaaagacctaaaccc	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70793140C>T	ENST00000358731.4	+	13	2106	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	615					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTTGAGAGGTCGCTTCCAAAG	0.358													False	0	False	5:70793140	0	T	70793140	C	T	70793140	3	4	88	1	0	0	0	0	1	0	0	0	1399	884	31	1	1893	1	BDP1	5	70793140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7638	70793140	110122120	6004	13716											
BDP1	55814	broad.mit.edu	37	chr5	70806004	70806004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagaagacaccagaggtgAttgatgctactgaggaaata	14	5	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70806004A>G	ENST00000358731.4	+	17	3348	c.3085A>G	c.(3085-3087)Att>Gtt	p.I1029V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1029	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACCAGAGGTGATTGATGCTAC	0.463													False	0	True	5:70806004	0	G	70806004	A	G	70806004	3	3	88	1	0	0	0	0	1	0	0	0	1399	333	12	4	3151	4	BDP1	5	70806004	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12864	70806004	110109256	6005	13717											
MCCC2	64087	broad.mit.edu	37	chr5	70939654	70939654	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttcttttgaggatttgctCgaatatttgggtacccagta	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70939654C>T	ENST00000340941.6	+	12	1210	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	MCCC2_ENST00000323375.8_Nonsense_Mutation_p.R323*	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	361	Acyl-CoA binding (Potential).|Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGGATTTGCTCGAATATTTGG	0.338													False	0	False	5:70939654	0	T	70939654	C	T	70939654	4	4	88	1	0	0	0	0	0	1	0	0	9442	876	31	1	1127	1	MCCC2	5	70939654	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133650	70939654	109975606	6006	13718											
MCCC2	64087	broad.mit.edu	37	chr5	70948515	70948515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctccagtgctgatgaagCggctttaaaagagcccatca	10	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70948515C>T	ENST00000340941.6	+	16	1637	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	MCCC2_ENST00000323375.8_Missense_Mutation_p.A465V	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	503	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GCTGATGAAGCGGCTTTAAAA	0.443													False	0	False	5:70948515	0	T	70948515	C	T	70948515	3	4	88	1	0	0	0	0	1	0	0	0	9442	768	27	1	1570	1	MCCC2	5	70948515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8861	70948515	109966745	6007	13719											
CARTPT	9607	broad.mit.edu	37	chr5	71015722	71015722	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcagatcgaagcgctgcaaGaagtcttgaagaagctcaag	12	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71015722G>A	ENST00000296777.4	+	2	306	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	59					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	AGCGCTGCAAGAAGTCTTGAA	0.537													False	0	False	5:71015722	0	A	71015722	G	A	71015722	3	1	88	1	0	0	0	0	1	0	0	0	2679	943	33	2	181	2	CARTPT	5	71015722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67207	71015722	109899538	6008	13720											
MAP1B	4131	broad.mit.edu	37	chr5	71490172	71490172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacagcggaaaattgcagaGctcgaggaagaacagtccca	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71490172G>A	ENST00000296755.7	+	5	1288	c.990G>A	c.(988-990)gaG>gaA	p.E330E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	330						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAATTGCAGAGCTCGAGGAAG	0.473													False	0	False	5:71490172	0	A	71490172	G	A	71490172	2	1	88	1	0	0	0	0	0	0	0	1	9295	962	34	2		2	MAP1B	5	71490172	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	474450	71490172	109425088	6009	13721											
MAP1B	4131	broad.mit.edu	37	chr5	71490541	71490541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaaggctgaattcattctGcctaatggtcaagaagtaga	10	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71490541G>A	ENST00000296755.7	+	5	1657	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	453						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATTCATTCTGCCTAATGGTC	0.433													False	0	False	5:71490541	0	A	71490541	G	A	71490541	2	1	88	1	0	0	0	0	0	0	0	1	9295	1306	46	2		2	MAP1B	5	71490541	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	369	71490541	109424719	6010	13722											
MAP1B	4131	broad.mit.edu	37	chr5	71491850	71491850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtcaccaaaggtcctgccGagtcccctgatgagggaatc	11	12	1	2	rs139604402		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71491850G>A	ENST00000296755.7	+	5	2966	c.2668G>A	c.(2668-2670)Gag>Aag	p.E890K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	890						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGTCCTGCCGAGTCCCCTGA	0.542													False	0	False	5:71491850	0	A	71491850	G	A	71491850	3	1	88	1	0	0	0	0	1	0	0	0	9295	1059	37	1	2686	1	MAP1B	5	71491850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1309	71491850	109423410	6011	13723											
MAP1B	4131	broad.mit.edu	37	chr5	71492907	71492907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttggacatcaaagataGcatctcagctgtttcaagtg	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71492907G>A	ENST00000296755.7	+	5	4023	c.3725G>A	c.(3724-3726)aGc>aAc	p.S1242N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1242						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATCAAAGATAGCATCTCAGCT	0.502													False	0	False	5:71492907	0	A	71492907	G	A	71492907	3	1	88	1	0	0	0	0	1	0	0	0	9295	971	34	2	3743	2	MAP1B	5	71492907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1057	71492907	109422353	6012	13724											
MAP1B	4131	broad.mit.edu	37	chr5	71495341	71495341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatcactagaacccctcaGgcatccacatattcctacga	4	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495341G>T	ENST00000296755.7	+	5	6457	c.6159G>T	c.(6157-6159)caG>caT	p.Q2053H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2053						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAACCCCTCAGGCATCCACAT	0.468													False	0	False	5:71495341	0	T	71495341	G	T	71495341	3	4	88	1	0	0	0	0	1	0	0	0	9295	991	35	3	6177	3	MAP1B	5	71495341	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2434	71495341	109419919	6013	13725											
MAP1B	4131	broad.mit.edu	37	chr5	71495820	71495820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccgcagcccttcgccacGccaccctgatgtgtccatgg	10	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495820G>A	ENST00000296755.7	+	5	6936	c.6638G>A	c.(6637-6639)cGc>cAc	p.R2213H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2213						microtubule|microtubule associated complex	structural molecule activity	p.R2213H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTTCGCCACGCCACCCTGAT	0.537													False	0	True	5:71495820	0	A	71495820	G	A	71495820	3	1	88	1	0	0	0	0	1	0	0	0	9295	1087	38	1	6656	1	MAP1B	5	71495820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	479	71495820	109419440	6014	13726											
ZNF366	0	broad.mit.edu	37	chr5	71739689	71739689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcagaaaaagaggggcccCgccgggtactctgaaaagcc	12	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71739689C>T	ENST00000318442.5	-	5	2619	c.2129G>A	c.(2128-2130)cGg>cAg	p.R710Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGAGGGGCCCCGCCGGGTACT	0.502													False	0	True	5:71739689	0	T	71739689	C	T	71739689	3	4	88	1	0	0	0	0	1	0	0	0	17953	652	23	1	109	1	ZNF366	5	71739689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243869	71739689	109175571	6015	13727											
ZNF366	0	broad.mit.edu	37	chr5	71756349	71756349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctgcatcatgtggcgCttcaggtggctggtctgggt	16	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71756349C>T	ENST00000318442.5	-	2	1465	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCATGTGGCGCTTCAGGTGGC	0.657													False	0	False	5:71756349	0	T	71756349	C	T	71756349	2	4	88	1	0	0	0	0	0	0	0	1	17953	796	28	2		2	ZNF366	5	71756349	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16660	71756349	109158911	6016	13728											
TMEM171	134285	broad.mit.edu	37	chr5	72419582	72419582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcggcatgctcatcagcGtcctgggcatttgggtccct	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72419582G>A	ENST00000454765.2	+	2	855	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I			Q8WVE6	TM171_HUMAN	transmembrane protein 171	128						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCTCATCAGCGTCCTGGGCAT	0.587													False	0	False	5:72419582	0	A	72419582	G	A	72419582	3	1	88	1	0	0	0	0	1	0	0	0	16170	1145	40	1	384	1	TMEM171	5	72419582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	663233	72419582	108495678	6017	13729											
TMEM174	134288	broad.mit.edu	37	chr5	72469182	72469182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgatgatgacaaggcggggGccaccttgctcttctcaggc	13	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72469182G>A	ENST00000296776.5	+	1	161	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	38						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CAAGGCGGGGGCCACCTTGCT	0.557													False	0	True	5:72469182	0	A	72469182	G	A	72469182	3	1	88	1	0	0	0	0	1	0	0	0	16172	1203	42	2	114	2	TMEM174	5	72469182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49600	72469182	108446078	6018	13730											
UTP15	84135	broad.mit.edu	37	chr5	72875701	72875701	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttttctttctctctttttaGatatatatctgcctgtaatt	4	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72875701G>T	ENST00000296792.4	+	13	1594		c.e13-1		UTP15_ENST00000543251.1_Splice_Site|UTP15_ENST00000508491.1_Splice_Site	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)						rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TCTCTTTTTAGATATATATCT	0.274													False	0	True	5:72875701	0	T	72875701	G	T	72875701	5	4	88	1	0	0	0	0	0	0	1	0	17181	956	33	3	1385	3	UTP15	5	72875701	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	406519	72875701	108039559	6019	13731											
ENC1	8507	broad.mit.edu	37	chr5	73931214	73931214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcagccttggaccactccTcgtgcagggtatcataaacc	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:73931214T>C	ENST00000302351.4	-	2	2227	c.1097A>G	c.(1096-1098)gAg>gGg	p.E366G	ENC1_ENST00000510316.1_Missense_Mutation_p.E293G|ENC1_ENST00000537006.1_Missense_Mutation_p.E366G	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	366					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GGACCACTCCTCGTGCAGGGT	0.567													False	0	False	5:73931214	0	C	73931214	T	C	73931214	3	2	88	1	0	0	0	0	1	0	0	0	5145	1551	54	4	676	4	ENC1	5	73931214	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1055513	73931214	106984046	6020	13732											
HEXB	3074	broad.mit.edu	37	chr5	74009400	74009400	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattgaatatgccagattaCgaggaattcgagtcctgcca	10	8	0	3	rs138914144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74009400C>T	ENST00000511181.1	+	7	1078	c.166C>T	c.(166-168)Cga>Tga	p.R56*	HEXB_ENST00000261416.7_Nonsense_Mutation_p.R281*			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	281					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TGCCAGATTACGAGGAATTCG	0.343													False	0	False	5:74009400	0	T	74009400	C	T	74009400	4	4	88	1	0	0	0	0	0	1	0	0	7121	528	19	1	867	1	HEXB	5	74009400	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78186	74009400	106905860	6021	13733											
GFM2	84340	broad.mit.edu	37	chr5	74026139	74026139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgccacctggagaggccCgagataggtctccagtccat	11	12	1	2	rs146794329		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74026139C>T	ENST00000296805.3	-	17	2129	c.1672G>A	c.(1672-1674)Ggg>Agg	p.G558R	GFM2_ENST00000345239.2_Missense_Mutation_p.G511R|GFM2_ENST00000515125.1_Intron|GFM2_ENST00000509430.1_Missense_Mutation_p.G558R	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	558					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	p.G558W(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TGGAGAGGCCCGAGATAGGTC	0.433													False	0	True	5:74026139	0	T	74026139	C	T	74026139	3	4	88	1	0	0	0	0	1	0	0	0	6387	652	23	1	687	1	GFM2	5	74026139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16739	74026139	106889121	6022	13734											
GFM2	84340	broad.mit.edu	37	chr5	74047308	74047308	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgtcactgtgtctccAtcatcaacatctagccagga	6	12	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74047308A>C	ENST00000296805.3	-	6	772	c.315T>G	c.(313-315)gaT>gaG	p.D105E	GFM2_ENST00000345239.2_Missense_Mutation_p.D105E|GFM2_ENST00000427854.2_Missense_Mutation_p.D105E|GFM2_ENST00000509430.1_Missense_Mutation_p.D105E	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	105					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CTGTGTCTCCATCATCAACAT	0.388													False	0	False	5:74047308	0	C	74047308	A	C	74047308	3	2	88	1	0	0	0	0	1	0	0	0	6387	214	8	4	2120	4	GFM2	5	74047308	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21169	74047308	106867952	6023	13735											
FAM169A	26049	broad.mit.edu	37	chr5	74091955	74091955	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcaatccctctctgttcaGgttcttcttccaggaattct	5	12	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74091955G>T	ENST00000389156.4	-	11	1250	c.1160C>A	c.(1159-1161)cCt>cAt	p.P387H	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.P327H	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	387	Asp/Glu-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TCTCTGTTCAGGTTCTTCTTC	0.433													False	0	False	5:74091955	0	T	74091955	G	T	74091955	3	4	88	1	0	0	0	0	1	0	0	0	5523	1000	35	3	864	3	FAM169A	5	74091955	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44647	74091955	106823305	6024	13736											
HMGCR	3156	broad.mit.edu	37	chr5	74639762	74639762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttccagttccagaatttaCgtcaacttggatcaaaatat	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74639762C>T	ENST00000287936.4	+	3	406	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	HMGCR_ENST00000343975.5_Missense_Mutation_p.R84C|HMGCR_ENST00000511206.1_Missense_Mutation_p.R84C	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	84					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCAGAATTTACGTCAACTTGG	0.328													False	0	False	5:74639762	0	T	74639762	C	T	74639762	3	4	88	1	0	0	0	0	1	0	0	0	7278	536	19	1	256	1	HMGCR	5	74639762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	547807	74639762	106275498	6025	13737											
HMGCR	3156	broad.mit.edu	37	chr5	74655331	74655331	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgccatctatagagataGgaacggtgggtggtgggacc	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74655331G>T	ENST00000287936.4	+	18	2563	c.2407G>T	c.(2407-2409)Gga>Tga	p.G803*	HMGCR_ENST00000343975.5_Nonsense_Mutation_p.G750*|HMGCR_ENST00000511206.1_Nonsense_Mutation_p.G803*	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	803	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TATAGAGATAGGAACGGTGGG	0.448													False	0	False	5:74655331	0	T	74655331	G	T	74655331	4	4	88	1	0	0	0	0	0	1	0	0	7278	1001	35	3	2473	3	HMGCR	5	74655331	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15569	74655331	106259929	6026	13738											
COL4A3BP	10087	broad.mit.edu	37	chr5	74676924	74676924	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacatatgtaatcttgcataGaatgttgtccctgctaattt	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74676924G>A	ENST00000380494.5	-	17	2397	c.2104C>T	c.(2104-2106)Cta>Tta	p.L702L	COL4A3BP_ENST00000508692.1_Intron|COL4A3BP_ENST00000405807.4_Silent_p.L574L|COL4A3BP_ENST00000261415.7_Silent_p.L548L	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	574					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCTTGCATAGAATGTTGTCC	0.373													False	0	False	5:74676924	0	A	74676924	G	A	74676924	2	1	88	1	0	0	0	0	0	0	0	1	3715	933	33	2		2	COL4A3BP	5	74676924	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21593	74676924	106238336	6027	13739											
POLK	51426	broad.mit.edu	37	chr5	74892094	74892094	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaggacaggaaacaccaaCaaaggagcattattggcttt	10	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74892094C>T	ENST00000241436.4	+	13	1748	c.1576C>T	c.(1576-1578)Caa>Taa	p.Q526*	POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Nonsense_Mutation_p.Q436*|POLK_ENST00000352007.5_Nonsense_Mutation_p.Q328*|POLK_ENST00000508526.1_Nonsense_Mutation_p.Q328*|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	526					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GAAACACCAACAAAGGAGCAT	0.378								DNA polymerases (catalytic subunits)					False	0	True	5:74892094	0	T	74892094	C	T	74892094	4	4	88	1	0	0	0	0	0	1	0	0	12273	479	17	2	1622	2	POLK	5	74892094	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215170	74892094	106023166	6028	13740											
SV2C	22987	broad.mit.edu	37	chr5	75428010	75428010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgataatccaagaatgCggtcatggtcgttttcagtg	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75428010C>T	ENST00000502798.2	+	2	877	c.435C>T	c.(433-435)tgC>tgT	p.C145C	SV2C_ENST00000322285.7_Silent_p.C145C	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	145					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCAAGAATGCGGTCATGGTC	0.537													False	0	False	5:75428010	0	T	75428010	C	T	75428010	2	4	88	1	0	0	0	0	0	0	0	1	15501	776	27	1		1	SV2C	5	75428010	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	535916	75428010	105487250	6029	13741											
SV2C	22987	broad.mit.edu	37	chr5	75428107	75428107	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgttggcttcgtgttacccAgtgctgagacagacctctgc	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75428107A>G	ENST00000502798.2	+	2	974	c.532A>G	c.(532-534)Agt>Ggt	p.S178G	SV2C_ENST00000322285.7_Missense_Mutation_p.S178G	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	178					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGTGTTACCCAGTGCTGAGAC	0.512													False	0	True	5:75428107	0	G	75428107	A	G	75428107	3	3	88	1	0	0	0	0	1	0	0	0	15501	188	7	4	534	4	SV2C	5	75428107	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	97	75428107	105487153	6030	13742											
F2RL2	2151	broad.mit.edu	37	chr5	75913857	75913857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtatgaaaaatggcagCatatataagaaaactgttgc	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75913857C>T	ENST00000296641.4	-	2	878	c.675G>A	c.(673-675)atG>atA	p.M225I	F2RL2_ENST00000504899.1_Missense_Mutation_p.M203I|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	225					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAATGGCAGCATATATAAGA	0.493													False	0	True	5:75913857	0	T	75913857	C	T	75913857	3	4	88	1	0	0	0	0	1	0	0	0	5378	710	25	2	453	2	F2RL2	5	75913857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	485750	75913857	105001403	6031	13743											
F2RL2	2151	broad.mit.edu	37	chr5	75914417	75914417	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgggggagctccacgaaaggTcttaatgggtaaggttggct	16	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75914417T>A	ENST00000296641.4	-	2	318	c.115A>T	c.(115-117)Acc>Tcc	p.T39S	F2RL2_ENST00000504899.1_Missense_Mutation_p.T17S|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	39		Cleavage; by thrombin (By similarity).			platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		CCACGAAAGGTCTTAATGGGT	0.398													False	0	False	5:75914417	0	A	75914417	T	A	75914417	3	1	88	1	0	0	0	0	1	0	0	0	5378	1667	58	5	1013	5	F2RL2	5	75914417	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	560	75914417	105000843	6032	13744											
IQGAP2	10788	broad.mit.edu	37	chr5	75932970	75932970	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctgaatcatgcttgtataAagaatcatggctcacaggaa	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75932970A>C	ENST00000274364.6	+	16	2189	c.1892A>C	c.(1891-1893)aAa>aCa	p.K631T	IQGAP2_ENST00000502745.1_Missense_Mutation_p.K184T|IQGAP2_ENST00000379730.3_Missense_Mutation_p.K190T|IQGAP2_ENST00000396234.3_Missense_Mutation_p.K184T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	631					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGCTTGTATAAAGAATCATGG	0.373													False	0	True	5:75932970	0	C	75932970	A	C	75932970	3	2	88	1	0	0	0	0	1	0	0	0	7865	14	1	4	1954	4	IQGAP2	5	75932970	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18553	75932970	104982290	6033	13745											
IQGAP2	10788	broad.mit.edu	37	chr5	75967644	75967644	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctacagtcatcaagatggtCgtcagcttcaatagaggtgc	10	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75967644C>T	ENST00000274364.6	+	24	3201	c.2904C>T	c.(2902-2904)gtC>gtT	p.V968V	IQGAP2_ENST00000502745.1_Silent_p.V464V|IQGAP2_ENST00000379730.3_Silent_p.V470V|IQGAP2_ENST00000396234.3_Silent_p.V464V	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	968	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TCAAGATGGTCGTCAGCTTCA	0.468													False	0	False	5:75967644	0	T	75967644	C	T	75967644	2	4	88	1	0	0	0	0	0	0	0	1	7865	871	31	1		1	IQGAP2	5	75967644	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34674	75967644	104947616	6034	13746											
IQGAP2	10788	broad.mit.edu	37	chr5	75979000	75979000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacttactgagtgaattgCtggggtcgctgggagaggtg	17	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75979000C>T	ENST00000274364.6	+	29	4018	c.3721C>T	c.(3721-3723)Ctg>Ttg	p.L1241L	IQGAP2_ENST00000502745.1_Silent_p.L737L|IQGAP2_ENST00000379730.3_Silent_p.L743L|IQGAP2_ENST00000396234.3_Silent_p.L737L	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1241					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGTGAATTGCTGGGGTCGCT	0.433													False	0	False	5:75979000	0	T	75979000	C	T	75979000	2	4	88	1	0	0	0	0	0	0	0	1	7865	796	28	2		2	IQGAP2	5	75979000	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11356	75979000	104936260	6035	13747											
IQGAP2	10788	broad.mit.edu	37	chr5	76003126	76003126	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacctgctgaacaagaagttCtatggaaagtgaagtgccta	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76003126C>T	ENST00000274364.6	+	36	5013	c.4716C>T	c.(4714-4716)ttC>ttT	p.F1572F	IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000502745.1_Silent_p.F1068F|IQGAP2_ENST00000379730.3_Silent_p.F1074F|IQGAP2_ENST00000396234.3_Silent_p.F1068F|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1572					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACAAGAAGTTCTATGGAAAGT	0.299													False	0	False	5:76003126	0	T	76003126	C	T	76003126	2	4	88	1	0	0	0	0	0	0	0	1	7865	912	32	2		2	IQGAP2	5	76003126	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24126	76003126	104912134	6036	13748											
F2RL1	2150	broad.mit.edu	37	chr5	76129450	76129450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacccttaacagctgcatcGacccctttgtctattacttt	4	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76129450G>A	ENST00000296677.4	+	2	1224	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	340					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAGCTGCATCGACCCCTTTGT	0.473													False	0	False	5:76129450	0	A	76129450	G	A	76129450	3	1	88	1	0	0	0	0	1	0	0	0	5377	1058	37	1	1024	1	F2RL1	5	76129450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126324	76129450	104785810	6037	13749											
CRHBP	1393	broad.mit.edu	37	chr5	76251590	76251590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtggtcttagcaggaggaGcatcagatcttcccagaatg	13	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76251590G>A	ENST00000274368.4	+	4	868	c.446G>A	c.(445-447)aGc>aAc	p.S149N	CRHBP_ENST00000506501.1_Missense_Mutation_p.S149N	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	149					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		AGCAGGAGGAGCATCAGATCT	0.493													False	0	False	5:76251590	0	A	76251590	G	A	76251590	3	1	88	1	0	0	0	0	1	0	0	0	3893	971	34	2	460	2	CRHBP	5	76251590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122140	76251590	104663670	6038	13750											
AGGF1	55109	broad.mit.edu	37	chr5	76326595	76326595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgcgccggagctcatgGcctcggaggcgccgtccccg	15	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76326595G>A	ENST00000312916.7	+	1	386	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	AGGF1_ENST00000506806.1_Missense_Mutation_p.A2T|AGGF1_ENST00000503538.1_Intron	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	2					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GGAGCTCATGGCCTCGGAGGc	0.741													False	0	False	5:76326595	0	A	76326595	G	A	76326595	3	1	88	1	0	0	0	0	1	0	0	0	382	1203	42	2	6	2	AGGF1	5	76326595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75005	76326595	104588665	6039	13751											
PDE8B	8622	broad.mit.edu	37	chr5	76700561	76700561	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagagcctcattcattcagAtataagaacaggaggaaaga	9	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76700561A>C	ENST00000264917.5	+	12	1272	c.1227A>C	c.(1225-1227)agA>agC	p.R409S	PDE8B_ENST00000346042.3_Missense_Mutation_p.R312S|PDE8B_ENST00000340978.3_Missense_Mutation_p.R362S|PDE8B_ENST00000333194.4_Missense_Mutation_p.R409S|PDE8B_ENST00000342343.4_Missense_Mutation_p.R389S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	409					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ATTCATTCAGATATAAGAACA	0.358													False	0	False	5:76700561	0	C	76700561	A	C	76700561	3	2	88	1	0	0	0	0	1	0	0	0	11722	330	12	4	1273	4	PDE8B	5	76700561	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	373966	76700561	104214699	6040	13752											
PDE8B	8622	broad.mit.edu	37	chr5	76715655	76715655	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaacagagatgacaaaAcactttgaacatgtgaataa	8	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76715655A>C	ENST00000264917.5	+	19	2238	c.2193A>C	c.(2191-2193)aaA>aaC	p.K731N	PDE8B_ENST00000505283.1_Missense_Mutation_p.K196N|PDE8B_ENST00000346042.3_Missense_Mutation_p.K634N|PDE8B_ENST00000340978.3_Missense_Mutation_p.K684N|PDE8B_ENST00000333194.4_Missense_Mutation_p.K676N|PDE8B_ENST00000342343.4_Missense_Mutation_p.K711N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	731	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AGATGACAAAACACTTTGAAC	0.433													False	0	True	5:76715655	0	C	76715655	A	C	76715655	3	2	88	1	0	0	0	0	1	0	0	0	11722	40	2	4	2267	4	PDE8B	5	76715655	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15094	76715655	104199605	6041	13753											
WDR41	55255	broad.mit.edu	37	chr5	76758930	76758930	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaaggatacaataactgttCtatcagcagaggctgtcaag	9	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76758930C>A	ENST00000296679.4	-	4	713	c.338G>T	c.(337-339)aGa>aTa	p.R113I	WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Missense_Mutation_p.R58I	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	113										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		AATAACTGTTCTATCAGCAGA	0.383													False	0	False	5:76758930	0	A	76758930	C	A	76758930	3	1	88	1	0	0	0	0	1	0	0	0	17378	913	32	3	1081	3	WDR41	5	76758930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43275	76758930	104156330	6042	13754											
OTP	23440	broad.mit.edu	37	chr5	76926430	76926430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgacacgccaggcatggCggccgccgcccagcgggtgt	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76926430C>T	ENST00000306422.3	-	3	1775	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	213	Poly-Ala.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CCAGGCATGGCGGCCGCCGCC	0.751													False	0	False	5:76926430	0	T	76926430	C	T	76926430	3	4	88	1	0	0	0	0	1	0	0	0	11378	768	27	1	344	1	OTP	5	76926430	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167500	76926430	103988830	6043	13755											
OTP	23440	broad.mit.edu	37	chr5	76933016	76933016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccagcctacacttcaccGcctcccggtggcccagaagc	9	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76933016G>A	ENST00000306422.3	-	2	1215	c.77C>T	c.(76-78)gCg>gTg	p.A26V		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	26						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		ACACTTCACCGCCTCCCGGTG	0.677													False	0	False	5:76933016	0	A	76933016	G	A	76933016	3	1	88	1	0	0	0	0	1	0	0	0	11378	1087	38	1	908	1	OTP	5	76933016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6586	76933016	103982244	6044	13756											
TBCA	6902	broad.mit.edu	37	chr5	76989061	76989061	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tattggattgaaaaaaaaaaTttaaacatgacacagaagtc	6	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76989061T>A	ENST00000306388.6	-	3	305	c.276A>T	c.(274-276)aaA>aaT	p.K92N	TBCA_ENST00000380377.4_Intron|TBCA_ENST00000520361.1_Intron|TBCA_ENST00000518338.2_Intron|TBCA_ENST00000517881.1_Intron|TBCA_ENST00000522370.1_Intron|TBCA_ENST00000517679.1_Intron			O75347	TBCA_HUMAN	tubulin folding cofactor A	0					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		AAAAAAAAAATTTAAACATGA	0.373													False	0	True	5:76989061	0	A	76989061	T	A	76989061	3	1	88	1	0	0	0	0	1	0	0	0	15711	1508	52	5		5	TBCA	5	76989061	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56045	76989061	103926199	6045	13757											
AP3B1	8546	broad.mit.edu	37	chr5	77311268	77311268	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggccagaagggactgcacCtacattggctacatttacaa	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77311268C>A	ENST00000255194.6	-	26	3272	c.3097G>T	c.(3097-3099)Ggt>Tgt	p.G1033C	AP3B1_ENST00000519295.1_Missense_Mutation_p.G984C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1033					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GGGACTGCACCTACATTGGCT	0.388									Hermansky-Pudlak syndrome				False	0	False	5:77311268	0	A	77311268	C	A	77311268	3	1	88	1	0	0	0	0	1	0	0	0	746	681	24	3	195	3	AP3B1	5	77311268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	322207	77311268	103603992	6046	13758											
AP3B1	8546	broad.mit.edu	37	chr5	77423893	77423893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcgaactgatgggtcgggCgccacctctggccaattaga	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77423893C>T	ENST00000255194.6	-	17	2104	c.1929G>A	c.(1927-1929)gcG>gcA	p.A643A	AP3B1_ENST00000519295.1_Silent_p.A594A	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	643					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGGGTCGGGCGCCACCTCTG	0.398									Hermansky-Pudlak syndrome				False	0	True	5:77423893	0	T	77423893	C	T	77423893	2	4	88	1	0	0	0	0	0	0	0	1	746	755	27	1		1	AP3B1	5	77423893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112625	77423893	103491367	6047	13759											
AP3B1	8546	broad.mit.edu	37	chr5	77458776	77458776	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctggcttttcacataggtCtaaaagatattatttcaatt	5	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77458776C>A	ENST00000255194.6	-	13	1406		c.e13-1		AP3B1_ENST00000519295.1_Splice_Site	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit						endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TCACATAGGTCTAAAAGATAT	0.348									Hermansky-Pudlak syndrome				False	0	False	5:77458776	0	A	77458776	C	A	77458776	5	1	88	1	0	0	0	0	0	0	1	0	746	927	32	3	2114	3	AP3B1	5	77458776	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34883	77458776	103456484	6048	13760											
AP3B1	8546	broad.mit.edu	37	chr5	77473166	77473166	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaatcatgacctacctaTtgctacgaagtaaacgcact	5	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77473166T>G	ENST00000255194.6	-	9	1212	c.1037A>C	c.(1036-1038)aAt>aCt	p.N346T	AP3B1_ENST00000519295.1_Missense_Mutation_p.N297T	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	346					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GACCTACCTATTGCTACGAAG	0.323									Hermansky-Pudlak syndrome				False	0	True	5:77473166	0	G	77473166	T	G	77473166	3	3	88	1	0	0	0	0	1	0	0	0	746	1493	52	4	2323	4	AP3B1	5	77473166	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14390	77473166	103442094	6049	13761											
LHFPL2	10184	broad.mit.edu	37	chr5	77805796	77805796	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggcgtagggcccgcacaGcgtgtcccgctggaagtgct	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77805796G>A	ENST00000380345.2	-	4	916	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	LHFPL2_ENST00000515007.2_Silent_p.L81L	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	81						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGCCCGCACAGCGTGTCCCGC	0.672													False	0	False	5:77805796	0	A	77805796	G	A	77805796	2	1	88	1	0	0	0	0	0	0	0	1	8817	962	34	2		2	LHFPL2	5	77805796	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	332630	77805796	103109464	6050	13762											
ARSB	411	broad.mit.edu	37	chr5	78260339	78260339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcaacttcttcgccatctCgaaaatcaagagcacatcgt	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78260339C>T	ENST00000264914.4	-	3	1126	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	ARSB_ENST00000396151.3_Missense_Mutation_p.R197Q|ARSB_ENST00000565165.1_Missense_Mutation_p.R197Q	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	197					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TTCGCCATCTCGAAAATCAAG	0.393													False	0	False	5:78260339	0	T	78260339	C	T	78260339	3	4	88	1	0	0	0	0	1	0	0	0	992	884	31	1	1068	1	ARSB	5	78260339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	454543	78260339	102654921	6051	13763											
ARSB	411	broad.mit.edu	37	chr5	78264847	78264847	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaaagtaggtatcaaatcCtcggcgggttggaaggcatt	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78264847C>A	ENST00000264914.4	-	2	1017	c.481G>T	c.(481-483)Gga>Tga	p.G161*	ARSB_ENST00000396151.3_Nonsense_Mutation_p.G161*|ARSB_ENST00000565165.1_Nonsense_Mutation_p.G161*	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	161					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GTATCAAATCCTCGGCGGGTT	0.443													False	0	False	5:78264847	0	A	78264847	C	A	78264847	4	1	88	1	0	0	0	0	0	1	0	0	992	690	24	3	1181	3	ARSB	5	78264847	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4508	78264847	102650413	6052	13764											
DMGDH	29958	broad.mit.edu	37	chr5	78328588	78328588	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaaccccatggaacacttaGactccagcctttgatagagc	9	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78328588G>A	ENST00000255189.3	-	9	1467	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	DMGDH_ENST00000540686.1_Missense_Mutation_p.S100F|DMGDH_ENST00000380311.4_Missense_Mutation_p.S279F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	480					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GGAACACTTAGACTCCAGCCT	0.507													False	0	False	5:78328588	0	A	78328588	G	A	78328588	3	1	88	1	0	0	0	0	1	0	0	0	4611	942	33	2	1193	2	DMGDH	5	78328588	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63741	78328588	102586672	6053	13765											
DMGDH	29958	broad.mit.edu	37	chr5	78338189	78338189	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagaatacgtgataggAccattgacaacattgatgat	10	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78338189A>T	ENST00000255189.3	-	7	1138	c.1110T>A	c.(1108-1110)ggT>ggA	p.G370G	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Silent_p.G169G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	370					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACGTGATAGGACCATTGACAA	0.453													False	0	False	5:78338189	0	T	78338189	A	T	78338189	2	4	88	1	0	0	0	0	0	0	0	1	4611	262	10	5		5	DMGDH	5	78338189	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9601	78338189	102577071	6054	13766											
DMGDH	29958	broad.mit.edu	37	chr5	78340214	78340214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaacaaaagcccatccctttCctgtcggagataatatgatc	6	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78340214C>T	ENST00000255189.3	-	6	935	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.E102K	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	303					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCATCCCTTTCCTGTCGGAGA	0.443													False	0	True	5:78340214	0	T	78340214	C	T	78340214	3	4	88	1	0	0	0	0	1	0	0	0	4611	864	30	2	1737	2	DMGDH	5	78340214	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2025	78340214	102575046	6055	13767											
DMGDH	29958	broad.mit.edu	37	chr5	78351653	78351653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaccagtttcttcttccaGtttctcataaagtttgatgc	6	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78351653G>A	ENST00000255189.3	-	3	383	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	119					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCTTCTTCCAGTTTCTCATAA	0.353													False	0	True	5:78351653	0	A	78351653	G	A	78351653	2	1	88	1	0	0	0	0	0	0	0	1	4611	1020	36	2		2	DMGDH	5	78351653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11439	78351653	102563607	6056	13768											
BHMT2	23743	broad.mit.edu	37	chr5	78376548	78376548	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctgtgacctcgccagGgaagtggctggcaaaggtga	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78376548G>T	ENST00000255192.3	+	4	363	c.297G>T	c.(295-297)agG>agT	p.R99S	BHMT2_ENST00000521567.1_Intron|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	99	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	ACCTCGCCAGGGAAGTGGCTG	0.438													False	0	True	5:78376548	0	T	78376548	G	T	78376548	3	4	88	1	0	0	0	0	1	0	0	0	1431	1223	43	3	311	3	BHMT2	5	78376548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24895	78376548	102538712	6057	13769											
BHMT	635	broad.mit.edu	37	chr5	78416175	78416175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatactcacccattttagggGcaggaagtcaatgaagctgc	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78416175G>A	ENST00000274353.5	+	4	395	c.288G>A	c.(286-288)ggG>ggA	p.G96G	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	96	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CATTTTAGGGGCAGGAAGTCA	0.383													False	0	True	5:78416175	0	A	78416175	G	A	78416175	2	1	88	1	0	0	0	0	0	0	0	1	1430	1190	42	2		2	BHMT	5	78416175	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39627	78416175	102499085	6058	13770											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	88	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-IB-7651-01A-11D-2154-08	194269	78610444	102304816	6059	13771											
JMY	133746	broad.mit.edu	37	chr5	78611996	78611996	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacagaaggatgttttgagaGaatccttcacacttctaccc	7	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78611996G>T	ENST00000396137.4	+	10	3295	c.2833G>T	c.(2833-2835)Gaa>Taa	p.E945*	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	945					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TGTTTTGAGAGAATCCTTCAC	0.413													False	0	True	5:78611996	0	T	78611996	G	T	78611996	4	4	88	1	0	0	0	0	0	1	0	0	8007	943	33	3	2871	3	JMY	5	78611996	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1552	78611996	102303264	6060	13772											
HOMER1	9456	broad.mit.edu	37	chr5	78692711	78692711	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcattatcaatttcttgttTtaacctttctatttcctaga	4	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78692711T>G	ENST00000334082.6	-	8	2253	c.811A>C	c.(811-813)Aaa>Caa	p.K271Q	HOMER1_ENST00000282260.6_Missense_Mutation_p.K141Q|HOMER1_ENST00000535690.1_Missense_Mutation_p.K97Q|HOMER1_ENST00000508576.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	271					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATTTCTTGTTTTAACCTTTCT	0.348													False	0	True	5:78692711	0	G	78692711	T	G	78692711	3	3	88	1	0	0	0	0	1	0	0	0	7325	1850	64	4	261	4	HOMER1	5	78692711	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80715	78692711	102222549	6061	13773											
CMYA5	202333	broad.mit.edu	37	chr5	79025540	79025541	+	Frame_Shift_Ins	INS	-	-	ATTTCTTTAATTACATAACCCTTTGGCAATG													agagtccctaaccttaatgtINStcagtcatgaagatcaaaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79025540_79025541insATTTCTTTAATTACATAACCCTTTGGCAATG	ENST00000446378.2	+	2	983_984	c.952_953insATTTCTTTAATTACATAACCCTTTGGCAATG	c.(952-954)ttcfs	p.F318fs		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	318						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACCTTAATGTTCAGTCATGAA	0.431													False	0	False	5:79025540	0	ATTTCTTTAATTACATAACCCTTTGGCAATG	79025541	-	ATTTCTTTAATTACATAACCCTTTGGCAATG	79025540	7	5	88	1	0	1	1	0	0	0	0	0	3613	1725	60	0	958	0	CMYA5	5	79025540	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	332829	79025540	101889720	6062	13774											
CMYA5	202333	broad.mit.edu	37	chr5	79026176	79026176	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attctaatttagtagaagaaGagatcgtagaacttgattac	8	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79026176G>A	ENST00000446378.2	+	2	1619	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	530	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTAGAAGAAGAGATCGTAGA	0.418													False	0	True	5:79026176	0	A	79026176	G	A	79026176	3	1	88	1	0	0	0	0	1	0	0	0	3613	943	33	2	1594	2	CMYA5	5	79026176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	636	79026176	101889084	6063	13775											
CMYA5	202333	broad.mit.edu	37	chr5	79026860	79026860	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccctctctctcaccatccAcaaccgaaaagacttctgaa	4	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79026860A>G	ENST00000446378.2	+	2	2303	c.2272A>G	c.(2272-2274)Aca>Gca	p.T758A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	758						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTCACCATCCACAACCGAAAA	0.502													False	0	False	5:79026860	0	G	79026860	A	G	79026860	3	3	88	1	0	0	0	0	1	0	0	0	3613	159	6	4	2278	4	CMYA5	5	79026860	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	684	79026860	101888400	6064	13776											
CMYA5	202333	broad.mit.edu	37	chr5	79029439	79029439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagatgttgctttggcagaGctgtctttggaacctgagaa	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79029439G>T	ENST00000446378.2	+	2	4882	c.4851G>T	c.(4849-4851)gaG>gaT	p.E1617D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1617						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTTTGGCAGAGCTGTCTTTGG	0.443													False	0	False	5:79029439	0	T	79029439	G	T	79029439	3	4	88	1	0	0	0	0	1	0	0	0	3613	962	34	3	4857	3	CMYA5	5	79029439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2579	79029439	101885821	6065	13777											
CMYA5	202333	broad.mit.edu	37	chr5	79030920	79030920	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaaatggttcagtcaaAggttattgatgatgctgatg	10	4	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79030920A>C	ENST00000446378.2	+	2	6363	c.6332A>C	c.(6331-6333)aAg>aCg	p.K2111T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2111						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTTCAGTCAAAGGTTATTGAT	0.433													False	0	True	5:79030920	0	C	79030920	A	C	79030920	3	2	88	1	0	0	0	0	1	0	0	0	3613	72	3	4	6338	4	CMYA5	5	79030920	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1481	79030920	101884340	6066	13778											
CMYA5	202333	broad.mit.edu	37	chr5	79031203	79031203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagaagacttagaaacacaGccaagtccatccgtagaaaa	7	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79031203G>A	ENST00000446378.2	+	2	6646	c.6615G>A	c.(6613-6615)caG>caA	p.Q2205Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2205						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGAAACACAGCCAAGTCCAT	0.393													False	0	False	5:79031203	0	A	79031203	G	A	79031203	2	1	88	1	0	0	0	0	0	0	0	1	3613	962	34	2		2	CMYA5	5	79031203	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	283	79031203	101884057	6067	13779											
CMYA5	202333	broad.mit.edu	37	chr5	79032156	79032156	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctatcaaaatgaagactAcaatgaaagacccaaaatca	4	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79032156A>G	ENST00000446378.2	+	2	7599	c.7568A>G	c.(7567-7569)tAc>tGc	p.Y2523C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2523						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATGAAGACTACAATGAAAGA	0.373													False	0	False	5:79032156	0	G	79032156	A	G	79032156	3	3	88	1	0	0	0	0	1	0	0	0	3613	391	14	4	7574	4	CMYA5	5	79032156	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	953	79032156	101883104	6068	13780											
CMYA5	202333	broad.mit.edu	37	chr5	79034343	79034343	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgacattctccatgacacatCtctaactcaaaaggaccagg	6	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79034343C>A	ENST00000446378.2	+	2	9786	c.9755C>A	c.(9754-9756)tCt>tAt	p.S3252Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3252						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATGACACATCTCTAACTCAA	0.423													False	0	False	5:79034343	0	A	79034343	C	A	79034343	3	1	88	1	0	0	0	0	1	0	0	0	3613	913	32	3	9761	3	CMYA5	5	79034343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2187	79034343	101880917	6069	13781											
CMYA5	202333	broad.mit.edu	37	chr5	79034527	79034527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtagaccatgtggagacCgttggtaacgtagcgatgca	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79034527C>T	ENST00000446378.2	+	2	9970	c.9939C>T	c.(9937-9939)acC>acT	p.T3313T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3313						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGTGGAGACCGTTGGTAACG	0.468													False	0	False	5:79034527	0	T	79034527	C	T	79034527	2	4	88	1	0	0	0	0	0	0	0	1	3613	639	23	1		1	CMYA5	5	79034527	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184	79034527	101880733	6070	13782											
THBS4	7060	broad.mit.edu	37	chr5	79373958	79373958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcccagagaacgcagagGtcaccctgaccgacttcagg	11	14	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79373958G>A	ENST00000350881.2	+	17	2363	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I	THBS4_ENST00000511733.1_Missense_Mutation_p.V634I|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	725					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GAACGCAGAGGTCACCCTGAC	0.592													False	0	False	5:79373958	0	A	79373958	G	A	79373958	3	1	88	1	0	0	0	0	1	0	0	0	15938	1261	44	2	2239	2	THBS4	5	79373958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339431	79373958	101541302	6071	13783											
SPZ1	84654	broad.mit.edu	37	chr5	79616966	79616966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaggtgaagaaactgaGccatgacacctattcattgc	10	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79616966G>A	ENST00000296739.4	+	1	1177	c.932G>A	c.(931-933)aGc>aAc	p.S311N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	311	Leucine-zipper.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAGAAACTGAGCCATGACACC	0.433													False	0	False	5:79616966	0	A	79616966	G	A	79616966	3	1	88	1	0	0	0	0	1	0	0	0	15209	971	34	2	934	2	SPZ1	5	79616966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243008	79616966	101298294	6072	13784											
ZFYVE16	9765	broad.mit.edu	37	chr5	79732719	79732719	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcctcatcagaaacaaGctatggaacaaatgagagtt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79732719G>T	ENST00000338008.5	+	3	395	c.215G>T	c.(214-216)aGc>aTc	p.S72I	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S72I|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S72I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	72					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TCAGAAACAAGCTATGGAACA	0.393													False	0	False	5:79732719	0	T	79732719	G	T	79732719	3	4	88	1	0	0	0	0	1	0	0	0	17747	971	34	3	221	3	ZFYVE16	5	79732719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115753	79732719	101182541	6073	13785											
ZFYVE16	9765	broad.mit.edu	37	chr5	79733552	79733552	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaagactcaaaaagtttaGaccttaaggataatgatgta	8	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79733552G>T	ENST00000338008.5	+	3	1228	c.1048G>T	c.(1048-1050)Gac>Tac	p.D350Y	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D350Y|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D350Y	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	350					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAAAAGTTTAGACCTTAAGGA	0.368													False	0	False	5:79733552	0	T	79733552	G	T	79733552	3	4	88	1	0	0	0	0	1	0	0	0	17747	942	33	3	1054	3	ZFYVE16	5	79733552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	833	79733552	101181708	6074	13786											
ZFYVE16	9765	broad.mit.edu	37	chr5	79739023	79739023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgtactactgtccagcCtcctcaggagaaccaaacat	7	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79739023C>T	ENST00000338008.5	+	5	2681	c.2501C>T	c.(2500-2502)cCt>cTt	p.P834L	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P834L|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P834L	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	834					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACTGTCCAGCCTCCTCAGGAG	0.408													False	0	False	5:79739023	0	T	79739023	C	T	79739023	3	4	88	1	0	0	0	0	1	0	0	0	17747	681	24	2	2515	2	ZFYVE16	5	79739023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5471	79739023	101176237	6075	13787											
ZFYVE16	9765	broad.mit.edu	37	chr5	79743884	79743884	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	attcccattctactacagtgGaaaagccaaacaatgagaca	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79743884G>T	ENST00000338008.5	+	7	2944	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*	ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E922*|ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E922*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	922					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TACTACAGTGGAAAAGCCAAA	0.328													False	0	True	5:79743884	0	T	79743884	G	T	79743884	4	4	88	1	0	0	0	0	0	1	0	0	17747	1175	41	3	2786	3	ZFYVE16	5	79743884	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4861	79743884	101171376	6076	13788											
ZFYVE16	9765	broad.mit.edu	37	chr5	79744105	79744105	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttacctattgctagtatTtcagattataggttactgtg	7	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79744105T>C	ENST00000338008.5	+	7	3165	c.2985T>C	c.(2983-2985)atT>atC	p.I995I	ZFYVE16_ENST00000510158.1_Silent_p.I995I|ZFYVE16_ENST00000505560.1_Silent_p.I995I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	995					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTGCTAGTATTTCAGATTATA	0.368													False	0	True	5:79744105	0	C	79744105	T	C	79744105	2	2	88	1	0	0	0	0	0	0	0	1	17747	1829	64	4		4	ZFYVE16	5	79744105	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	221	79744105	101171155	6077	13789											
FAM151B	167555	broad.mit.edu	37	chr5	79837528	79837528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggactggaaaaaatgataaCtattccgttgaagatttact	8	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79837528C>A	ENST00000282226.4	+	6	863	c.708C>A	c.(706-708)aaC>aaA	p.N236K	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	236										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		AAAATGATAACTATTCCGTTG	0.323													False	0	False	5:79837528	0	A	79837528	C	A	79837528	3	1	88	1	0	0	0	0	1	0	0	0	5495	564	20	3	730	3	FAM151B	5	79837528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93423	79837528	101077732	6078	13790											
DHFR	1719	broad.mit.edu	37	chr5	79924945	79924945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttcaaatttgtacttaatGcctttctcctcctggacatc	4	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79924945G>A	ENST00000439211.2	-	6	1018	c.525C>T	c.(523-525)ggC>ggT	p.G175G	DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000505337.1_Silent_p.G175G|DHFR_ENST00000511032.1_3'UTR|DHFR_ENST00000504396.1_Silent_p.G123G	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	175	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGTACTTAATGCCTTTCTCCT	0.323													False	0	False	5:79924945	0	A	79924945	G	A	79924945	2	1	88	1	0	0	0	0	0	0	0	1	4511	1306	46	2		2	DHFR	5	79924945	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87417	79924945	100990315	6079	13791											
DHFR	1719	broad.mit.edu	37	chr5	79945254	79945254	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattctaccctttaaaggtcGattcttctcaggaatggaga	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79945254G>A	ENST00000439211.2	-	3	689	c.196C>T	c.(196-198)Cga>Tga	p.R66*	DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000505337.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000511032.1_Nonsense_Mutation_p.R66*|DHFR_ENST00000504396.1_Nonsense_Mutation_p.R14*	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	66	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TTTAAAGGTCGATTCTTCTCA	0.348													False	0	False	5:79945254	0	A	79945254	G	A	79945254	4	1	88	1	0	0	0	0	0	1	0	0	4511	1066	37	1	383	1	DHFR	5	79945254	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20309	79945254	100970006	6080	13792											
MSH3	4437	broad.mit.edu	37	chr5	80064769	80064769	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgcatttgcaagaaataCgaaaaatactaaaaaatcct	5	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80064769C>T	ENST00000265081.6	+	15	2280	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	734					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GCAAGAAATACGAAAAATACT	0.318								Mismatch excision repair (MMR)					False	0	False	5:80064769	0	T	80064769	C	T	80064769	4	4	88	1	0	0	0	0	0	1	0	0	9938	528	19	1	2258	1	MSH3	5	80064769	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119515	80064769	100850491	6081	13793											
MSH3	4437	broad.mit.edu	37	chr5	80150042	80150042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcagaaaagcaacatcacaGtccttggttatcttggatga	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80150042G>T	ENST00000265081.6	+	21	2987	c.2907G>T	c.(2905-2907)caG>caT	p.Q969H		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	969					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CAACATCACAGTCCTTGGTTA	0.403								Mismatch excision repair (MMR)					False	0	False	5:80150042	0	T	80150042	G	T	80150042	3	4	88	1	0	0	0	0	1	0	0	0	9938	1020	36	3	2989	3	MSH3	5	80150042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85273	80150042	100765218	6082	13794											
RASGRF2	5924	broad.mit.edu	37	chr5	80404827	80404827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcacagtgtgtggacaatAtacgatgtaatggtttaatg	10	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80404827A>G	ENST00000265080.4	+	13	1835	c.1768A>G	c.(1768-1770)Ata>Gta	p.I590V		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	590					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGTGGACAATATACGATGTAA	0.338													False	0	False	5:80404827	0	G	80404827	A	G	80404827	3	3	88	1	0	0	0	0	1	0	0	0	13152	449	16	4	1818	4	RASGRF2	5	80404827	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	254785	80404827	100510433	6083	13795											
CKMT2	1160	broad.mit.edu	37	chr5	80550874	80550874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgcgcactggccgcagCatccgtgggctgagcctgcc	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80550874C>T	ENST00000424301.2	+	6	748	c.510C>T	c.(508-510)agC>agT	p.S170S	CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Silent_p.S170S|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Silent_p.S170S|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	170	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CTGGCCGCAGCATCCGTGGGC	0.662													False	0	False	5:80550874	0	T	80550874	C	T	80550874	2	4	88	1	0	0	0	0	0	0	0	1	3474	709	25	2		2	CKMT2	5	80550874	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146047	80550874	100364386	6084	13796											
CKMT2	1160	broad.mit.edu	37	chr5	80562074	80562074	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctcagtttggcaaaaaGtaaactttccctttcccaat	5	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80562074G>T	ENST00000424301.2	+	11	1495	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.K419N|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.K419N|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	419					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TTGGCAAAAAGTAAACTTTCC	0.383													False	0	True	5:80562074	0	T	80562074	G	T	80562074	3	4	88	1	0	0	0	0	1	0	0	0	3474	1020	36	3	1291	3	CKMT2	5	80562074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11200	80562074	100353186	6085	13797											
ACOT12	134526	broad.mit.edu	37	chr5	80628379	80628380	+	Frame_Shift_Ins	INS	-	-	AAATAATGAAGTCTGTGTAGATATTTCTGCTCTTGAATTATGTTTAT													gtataggacaggtgatgtgaINStacagctgatcatcttcact							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80628379_80628380insAAATAATGAAGTCTGTGTAGATATTTCTGCTCTTGAATTATGTTTAT	ENST00000307624.3	-	13	1335_1336	c.1307_1308insATAAACATAATTCAAGAGCAGAAATATCTACACAGACTTCATTATTT	c.(1306-1308)tatfs	p.Y436fs	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	436	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AGGTGATGTGATACAGCTGATC	0.436													False	0	True	5:80628379	0	AAATAATGAAGTCTGTGTAGATATTTCTGCTCTTGAATTATGTTTAT	80628380	-	AAATAATGAAGTCTGTGTAGATATTTCTGCTCTTGAATTATGTTTAT	80628379	7	5	88	1	0	1	1	0	0	0	0	0	150	340	12	0	371	0	ACOT12	5	80628379	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	66305	80628379	100286881	6086	13798											
ACOT12	134526	broad.mit.edu	37	chr5	80655779	80655779	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtatcttcatgttgtaatcGaactttccttctctcagcag	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80655779G>A	ENST00000307624.3	-	5	467	c.439C>T	c.(439-441)Cga>Tga	p.R147*	ACOT12_ENST00000513751.1_Nonsense_Mutation_p.R147*	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	147					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	p.R147*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGTTGTAATCGAACTTTCCTT	0.313													False	0	False	5:80655779	0	A	80655779	G	A	80655779	4	1	88	1	0	0	0	0	0	1	0	0	150	1066	37	1	1272	1	ACOT12	5	80655779	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27400	80655779	100259481	6087	13799											
SSBP2	23635	broad.mit.edu	37	chr5	80762814	80762814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttcattccaggcattccaGggccacctaaagcattcagt	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80762814G>T	ENST00000320672.4	-	9	827	c.617C>A	c.(616-618)cCt>cAt	p.P206H	SSBP2_ENST00000514493.1_Missense_Mutation_p.P176H|SSBP2_ENST00000509053.1_Missense_Mutation_p.P176H|SSBP2_ENST00000505980.1_Missense_Mutation_p.P186H|SSBP2_ENST00000515395.1_Missense_Mutation_p.P184H	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	206	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		AGGCATTCCAGGGCCACCTAA	0.338													False	0	True	5:80762814	0	T	80762814	G	T	80762814	3	4	88	1	0	0	0	0	1	0	0	0	15262	1000	35	3	504	3	SSBP2	5	80762814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107035	80762814	100152446	6088	13800											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81608455	81608455	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttaccaattacaacaagTtgtccatccagagttggttt	6	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:81608455T>C	ENST00000380167.4	+	9	1482	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L	ATP6AP1L_ENST00000439350.1_Silent_p.L53L|ATP6AP1L_ENST00000508366.1_3'UTR			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	53					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TTACAACAAGTTGTCCATCCA	0.418											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	5:81608455	0	C	81608455	T	C	81608455	2	2	88	1	0	0	0	0	0	0	0	1	1170	1722	60	4		4	ATP6AP1L	5	81608455	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	845641	81608455	99306805	6089	13801											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81613867	81613867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaccaaagcccaagactgCgcctcctccttctcgccagc	6	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:81613867C>T	ENST00000380167.4	+	10	1748	c.423C>T	c.(421-423)tgC>tgT	p.C141C	ATP6AP1L_ENST00000439350.1_Silent_p.C141C|ATP6AP1L_ENST00000508366.1_Intron			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	141					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.C141C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CCCAAGACTGCGCCTCCTCCT	0.547													False	0	False	5:81613867	0	T	81613867	C	T	81613867	2	4	88	1	0	0	0	0	0	0	0	1	1170	776	27	1		1	ATP6AP1L	5	81613867	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5412	81613867	99301393	6090	13802											
VCAN	1462	broad.mit.edu	37	chr5	82779357	82779357	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgttcataaatataaagaGcatcttatggatgtgttcaa	8	4	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82779357G>T	ENST00000265077.3	+	2	585	c.20G>T	c.(19-21)aGc>aTc	p.S7I	VCAN_ENST00000342785.4_Missense_Mutation_p.S7I|VCAN_ENST00000512590.2_5'UTR|VCAN_ENST00000513984.1_Missense_Mutation_p.S7I|VCAN_ENST00000343200.5_Missense_Mutation_p.S7I|VCAN_ENST00000502527.2_Missense_Mutation_p.S7I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	7					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATATAAAGAGCATCTTATGG	0.323													False	0	False	5:82779357	0	T	82779357	G	T	82779357	3	4	88	1	0	0	0	0	1	0	0	0	17222	971	34	3	22	3	VCAN	5	82779357	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1165490	82779357	98135903	6091	13803											
VCAN	1462	broad.mit.edu	37	chr5	82786232	82786232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtgatgcgggtctttaccGctgtgacgtcatgtacggga	14	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82786232G>A	ENST00000265077.3	+	3	951	c.386G>A	c.(385-387)cGc>cAc	p.R129H	VCAN_ENST00000342785.4_Missense_Mutation_p.R129H|VCAN_ENST00000512590.2_Missense_Mutation_p.R81H|VCAN_ENST00000513984.1_Missense_Mutation_p.R129H|VCAN_ENST00000343200.5_Missense_Mutation_p.R129H|VCAN_ENST00000502527.2_Missense_Mutation_p.R129H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	129	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGTCTTTACCGCTGTGACGTC	0.517													False	0	False	5:82786232	0	A	82786232	G	A	82786232	3	1	88	1	0	0	0	0	1	0	0	0	17222	1087	38	1	392	1	VCAN	5	82786232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6875	82786232	98129028	6092	13804											
VCAN	1462	broad.mit.edu	37	chr5	82789700	82789700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaggacttatggattccGttctccccaggaaacttacg	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82789700G>A	ENST00000265077.3	+	5	1263	c.698G>A	c.(697-699)cGt>cAt	p.R233H	VCAN_ENST00000342785.4_Missense_Mutation_p.R233H|VCAN_ENST00000512590.2_Missense_Mutation_p.R185H|VCAN_ENST00000513984.1_Missense_Mutation_p.R233H|VCAN_ENST00000343200.5_Missense_Mutation_p.R233H|VCAN_ENST00000502527.2_Missense_Mutation_p.R233H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	233	Link 1.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TATGGATTCCGTTCTCCCCAG	0.438													False	0	False	5:82789700	0	A	82789700	G	A	82789700	3	1	88	1	0	0	0	0	1	0	0	0	17222	1145	40	1	712	1	VCAN	5	82789700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3468	82789700	98125560	6093	13805											
VCAN	1462	broad.mit.edu	37	chr5	82817768	82817768	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccactgccttcagttcagtaGacagacttcacacaacttca	5	14	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82817768G>A	ENST00000265077.3	+	7	4208	c.3643G>A	c.(3643-3645)Gac>Aac	p.D1215N	VCAN_ENST00000342785.4_Missense_Mutation_p.D1215N|VCAN_ENST00000512590.2_Missense_Mutation_p.D1167N|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1215	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAGTTCAGTAGACAGACTTCA	0.428													False	0	True	5:82817768	0	A	82817768	G	A	82817768	3	1	88	1	0	0	0	0	1	0	0	0	17222	942	33	2	3665	2	VCAN	5	82817768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28068	82817768	98097492	6094	13806											
VCAN	1462	broad.mit.edu	37	chr5	82834706	82834706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggaaggctctggagatGcagcatttagggacacccag	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82834706G>A	ENST00000265077.3	+	8	6449	c.5884G>A	c.(5884-5886)Gca>Aca	p.A1962T	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.A975T|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1962	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTCTGGAGATGCAGCATTTAG	0.453													False	0	False	5:82834706	0	A	82834706	G	A	82834706	3	1	88	1	0	0	0	0	1	0	0	0	17222	1319	46	2	5910	2	VCAN	5	82834706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16938	82834706	98080554	6095	13807											
VCAN	1462	broad.mit.edu	37	chr5	82835411	82835411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaatcttacacaactctcCctgaagctactgaaaagtca	6	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82835411C>A	ENST00000265077.3	+	8	7154	c.6589C>A	c.(6589-6591)Cct>Act	p.P2197T	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.P1210T|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2197	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CACAACTCTCCCTGAAGCTAC	0.373													False	0	True	5:82835411	0	A	82835411	C	A	82835411	3	1	88	1	0	0	0	0	1	0	0	0	17222	623	22	3	6615	3	VCAN	5	82835411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	705	82835411	98079849	6096	13808											
VCAN	1462	broad.mit.edu	37	chr5	82837166	82837166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatactccctatctaagtAttgctactacccaccttatg	3	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82837166A>G	ENST00000265077.3	+	8	8909	c.8344A>G	c.(8344-8346)Att>Gtt	p.I2782V	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.I1795V|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2782	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTATCTAAGTATTGCTACTAC	0.438													False	0	False	5:82837166	0	G	82837166	A	G	82837166	3	3	88	1	0	0	0	0	1	0	0	0	17222	449	16	4	8370	4	VCAN	5	82837166	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1755	82837166	98078094	6097	13809											
HAPLN1	1404	broad.mit.edu	37	chr5	82937350	82937350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagtagacaccatacaGcttatgctttttatctggga	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82937350G>A	ENST00000274341.4	-	5	1880	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	344	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ACACCATACAGCTTATGCTTT	0.478													False	0	False	5:82937350	0	A	82937350	G	A	82937350	2	1	88	1	0	0	0	0	0	0	0	1	7001	962	34	2		2	HAPLN1	5	82937350	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100184	82937350	97977910	6098	13810											
EDIL3	10085	broad.mit.edu	37	chr5	83362285	83362285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccatgtcttcattggtGcctttcactttgtacattgc	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:83362285G>A	ENST00000296591.5	-	7	1210	c.792C>T	c.(790-792)ggC>ggT	p.G264G	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Silent_p.G254G	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	264	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTTCATTGGTGCCTTTCACTT	0.348													False	0	False	5:83362285	0	A	83362285	G	A	83362285	2	1	88	1	0	0	0	0	0	0	0	1	4945	1306	46	2		2	EDIL3	5	83362285	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	424935	83362285	97552975	6099	13811											
EDIL3	10085	broad.mit.edu	37	chr5	83549944	83549944	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttggggtctgtgaagccatCtggacactcacaggaaaagg	14	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:83549944C>A	ENST00000296591.5	-	2	572	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	EDIL3_ENST00000380138.3_Missense_Mutation_p.D52Y	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	52	EGF-like 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTGAAGCCATCTGGACACTCA	0.393													False	0	False	5:83549944	0	A	83549944	C	A	83549944	3	1	88	1	0	0	0	0	1	0	0	0	4945	913	32	3	1328	3	EDIL3	5	83549944	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187659	83549944	97365316	6100	13812											
COX7C	1350	broad.mit.edu	37	chr5	85915251	85915251	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatctgcatttgctacacccTtccttgtagtaagacaccaa	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:85915251T>G	ENST00000509578.1	+	2	257	c.157T>G	c.(157-159)Ttc>Gtc	p.F53V	COX7C_ENST00000513124.1_3'UTR|COX7C_ENST00000515763.1_Missense_Mutation_p.F53V|COX7C_ENST00000247655.3_Missense_Mutation_p.F53V			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc	53					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		TGCTACACCCTTCCTTGTAGT	0.373													False	0	True	5:85915251	0	G	85915251	T	G	85915251	3	3	88	1	0	0	0	0	1	0	0	0	3807	1609	56	4	163	4	COX7C	5	85915251	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2365307	85915251	95000009	6101	13813											
RASA1	5921	broad.mit.edu	37	chr5	86672311	86672311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaaaggtattgaaccagggTccctgcgtgttcgagcacga	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:86672311T>C	ENST00000456692.2	+	16	1697	c.1582T>C	c.(1582-1584)Tcc>Ccc	p.S528P	RASA1_ENST00000506290.1_Missense_Mutation_p.S539P|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.S538P|RASA1_ENST00000274376.6_Missense_Mutation_p.S705P	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	705	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGAACCAGGGTCCCTGCGTGT	0.403													False	0	True	5:86672311	0	C	86672311	T	C	86672311	3	2	88	1	0	0	0	0	1	0	0	0	13139	1667	58	4	2187	4	RASA1	5	86672311	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	757060	86672311	94242949	6102	13814											
TMEM161B	153396	broad.mit.edu	37	chr5	87498877	87498877	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aataaaggtgccaagaagttGatatgaagtaaagttctgaa	10	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:87498877G>A	ENST00000296595.6	-	9	940	c.816C>T	c.(814-816)atC>atT	p.I272I	TMEM161B_ENST00000509387.1_Silent_p.I145I|TMEM161B_ENST00000514135.1_Silent_p.I272I|TMEM161B_ENST00000511218.1_Silent_p.I90I|TMEM161B_ENST00000506536.1_Silent_p.I90I|TMEM161B_ENST00000512429.1_Silent_p.I261I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	272						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CCAAGAAGTTGATATGAAGTA	0.363													False	0	False	5:87498877	0	A	87498877	G	A	87498877	2	1	88	1	0	0	0	0	0	0	0	1	16159	1280	45	2		2	TMEM161B	5	87498877	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	826566	87498877	93416383	6103	13815											
MBLAC2	153364	broad.mit.edu	37	chr5	89769706	89769706	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtacccggaactgtctgGccctccagccggggctgggc	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89769706G>T	ENST00000316610.6	-	1	879	c.404C>A	c.(403-405)gCc>gAc	p.A135D	MBLAC2_ENST00000514906.1_Missense_Mutation_p.A135D	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	135							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						GAACTGTCTGGCCCTCCAGCC	0.682													False	0	True	5:89769706	0	T	89769706	G	T	89769706	3	4	88	1	0	0	0	0	1	0	0	0	9419	1203	42	3	443	3	MBLAC2	5	89769706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2270829	89769706	91145554	6104	13816											
MBLAC2	153364	broad.mit.edu	37	chr5	89770000	89770000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccacgtcctgctcggagCcgcgcaccagccagatgttg	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89770000C>T	ENST00000316610.6	-	1	585	c.110G>A	c.(109-111)gGc>gAc	p.G37D	MBLAC2_ENST00000514906.1_Missense_Mutation_p.G37D	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	37							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						CTGCTCGGAGCCGCGCACCAG	0.607													False	0	False	5:89770000	0	T	89770000	C	T	89770000	3	4	88	1	0	0	0	0	1	0	0	0	9419	739	26	2	737	2	MBLAC2	5	89770000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294	89770000	91145260	6105	13817											
GPR98	84059	broad.mit.edu	37	chr5	89924519	89924519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagttctccattttgcacAagggcagatgttggcaacaa	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89924519A>G	ENST00000405460.2	+	8	1475	c.1379A>G	c.(1378-1380)cAa>cGa	p.Q460R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	460	Calx-beta 4.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTTTGCACAAGGGCAGATG	0.463													False	0	False	5:89924519	0	G	89924519	A	G	89924519	3	3	88	1	0	0	0	0	1	0	0	0	6768	130	5	4	1409	4	GPR98	5	89924519	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	154519	89924519	90990741	6106	13818											
GPR98	84059	broad.mit.edu	37	chr5	89925335	89925335	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgatgcattccttcaaaaTggagctcactttctagtaca	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89925335T>C	ENST00000405460.2	+	9	1914	c.1818T>C	c.(1816-1818)aaT>aaC	p.N606N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	606					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		tccttcaaaatggagctcact	0.318													False	0	True	5:89925335	0	C	89925335	T	C	89925335	2	2	88	1	0	0	0	0	0	0	0	1	6768	1461	51	4		4	GPR98	5	89925335	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	816	89925335	90989925	6107	13819											
GPR98	84059	broad.mit.edu	37	chr5	89938474	89938474	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaacgtggaaaaccaagtGctgaaatctggatatactag	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89938474G>A	ENST00000405460.2	+	12	2358	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	754					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAACCAAGTGCTGAAATCTG	0.413													False	0	False	5:89938474	0	A	89938474	G	A	89938474	2	1	88	1	0	0	0	0	0	0	0	1	6768	1306	46	2		2	GPR98	5	89938474	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13139	89938474	90976786	6108	13820											
GPR98	84059	broad.mit.edu	37	chr5	89939798	89939798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaggagatgctatctataGtggtaatttattctgtgtct	9	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89939798G>T	ENST00000405460.2	+	14	2828	c.2732G>T	c.(2731-2733)aGt>aTt	p.S911I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	911					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTATCTATAGTGGTAATTTA	0.274													False	0	False	5:89939798	0	T	89939798	G	T	89939798	3	4	88	1	0	0	0	0	1	0	0	0	6768	1029	36	3	2786	3	GPR98	5	89939798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1324	89939798	90975462	6109	13821											
GPR98	84059	broad.mit.edu	37	chr5	90020790	90020790	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttaccgatggcaggggaTttttattccagttgaggtaa	12	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90020790T>G	ENST00000405460.2	+	46	9986	c.9890T>G	c.(9889-9891)aTt>aGt	p.I3297S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3297					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGCAGGGGATTTTTATTCCA	0.284													False	0	True	5:90020790	0	G	90020790	T	G	90020790	3	3	88	1	0	0	0	0	1	0	0	0	6768	1493	52	4	10072	4	GPR98	5	90020790	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80992	90020790	90894470	6110	13822											
GPR98	84059	broad.mit.edu	37	chr5	90041501	90041501	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagaaaaagaagaatccttCaaagttcaacttaaaaatcc	4	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90041501C>T	ENST00000405460.2	+	52	10959	c.10863C>T	c.(10861-10863)ttC>ttT	p.F3621F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3621	Calx-beta 23.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGAATCCTTCAAAGTTCAAC	0.363													False	0	True	5:90041501	0	T	90041501	C	T	90041501	2	4	88	1	0	0	0	0	0	0	0	1	6768	825	29	2		2	GPR98	5	90041501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20711	90041501	90873759	6111	13823											
GPR98	84059	broad.mit.edu	37	chr5	90050900	90050900	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaatttcttactgcatgtCgataatcaagctactgagaa	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90050900C>T	ENST00000405460.2	+	55	11574	c.11478C>T	c.(11476-11478)gtC>gtT	p.V3826V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3826					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACTGCATGTCGATAATCAAG	0.358													False	0	False	5:90050900	0	T	90050900	C	T	90050900	2	4	88	1	0	0	0	0	0	0	0	1	6768	871	31	1		1	GPR98	5	90050900	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9399	90050900	90864360	6112	13824											
GPR98	84059	broad.mit.edu	37	chr5	90106690	90106690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgctgtgtctgaaaagCctgatgtggccactgtaact	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90106690C>T	ENST00000405460.2	+	74	15709	c.15613C>T	c.(15613-15615)Cct>Tct	p.P5205S	GPR98_ENST00000425867.2_Missense_Mutation_p.P866S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5205					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCTGAAAAGCCTGATGTGGC	0.473													False	0	False	5:90106690	0	T	90106690	C	T	90106690	3	4	88	1	0	0	0	0	1	0	0	0	6768	739	26	2	15907	2	GPR98	5	90106690	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55790	90106690	90808570	6113	13825											
GPR98	84059	broad.mit.edu	37	chr5	90144584	90144584	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactttgctgaagtgactgAgaattttgccttttctctgc	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90144584A>G	ENST00000405460.2	+	79	17246	c.17150A>G	c.(17149-17151)gAg>gGg	p.E5717G	GPR98_ENST00000425867.2_Missense_Mutation_p.E1378G	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5717					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAAGTGACTGAGAATTTTGCC	0.383													False	0	False	5:90144584	0	G	90144584	A	G	90144584	3	3	88	1	0	0	0	0	1	0	0	0	6768	304	11	4	17464	4	GPR98	5	90144584	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37894	90144584	90770676	6114	13826											
NR2F1	7025	broad.mit.edu	37	chr5	92923924	92923924	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccctgctacgcctcacCtggagcgagctgttcgtgct	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:92923924C>A	ENST00000327111.3	+	2	2452	c.765C>A	c.(763-765)acC>acA	p.T255T		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	255					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TACGCCTCACCTGGAGCGAGC	0.687													False	0	False	5:92923924	0	A	92923924	C	A	92923924	2	1	88	1	0	0	0	0	0	0	0	1	10695	668	24	3		3	NR2F1	5	92923924	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2779340	92923924	87991336	6115	13827											
POU5F2	134187	broad.mit.edu	37	chr5	93076496	93076496	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccatcttgctgcggttataGaaccaaactcgaaccacatc	6	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:93076496G>A	ENST00000510627.4	-	1	847	c.774C>T	c.(772-774)ttC>ttT	p.F258F	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|POU5F2_ENST00000606183.1_5'UTR	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	258						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TGCGGTTATAGAACCAAACTC	0.577													False	0	False	5:93076496	0	A	93076496	G	A	93076496	2	1	88	1	0	0	0	0	0	0	0	1	12352	933	33	2		2	POU5F2	5	93076496	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152572	93076496	87838764	6116	13828											
MCTP1	79772	broad.mit.edu	37	chr5	94619986	94619986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggcgacgagcagcacagGttgggctgcgaggaggagaa	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94619986G>A	ENST00000515393.1	-	1	293	c.294C>T	c.(292-294)aaC>aaT	p.N98N		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	98					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGCAGCACAGGTTGGGCTGCG	0.701													False	0	False	5:94619986	0	A	94619986	G	A	94619986	2	1	88	1	0	0	0	0	0	0	0	1	9467	1252	44	2		2	MCTP1	5	94619986	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1543490	94619986	86295274	6117	13829											
TTC37	9652	broad.mit.edu	37	chr5	94814107	94814107	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtaacacatctctgcagCtctcatcattccttgggatt	6	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94814107C>A	ENST00000358746.2	-	40	4550	c.4252G>T	c.(4252-4254)Gct>Tct	p.A1418S		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1418							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCTCTGCAGCTCTCATCATT	0.443													False	0	False	5:94814107	0	A	94814107	C	A	94814107	3	1	88	1	0	0	0	0	1	0	0	0	16789	797	28	3	458	3	TTC37	5	94814107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	194121	94814107	86101153	6118	13830											
TTC37	9652	broad.mit.edu	37	chr5	94818235	94818235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgtagttcttcaagtAcagcatctgggagtggcttt	10	6	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94818235A>G	ENST00000358746.2	-	39	4452	c.4154T>C	c.(4153-4155)gTa>gCa	p.V1385A		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1385							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTCTTCAAGTACAGCATCTGG	0.408													False	0	False	5:94818235	0	G	94818235	A	G	94818235	3	3	88	1	0	0	0	0	1	0	0	0	16789	391	14	4	560	4	TTC37	5	94818235	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4128	94818235	86097025	6119	13831											
TTC37	9652	broad.mit.edu	37	chr5	94877557	94877557	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttttggtaaacaccaggCaagtcatccttagcatttat	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94877557C>T	ENST00000358746.2	-	6	586	c.288G>A	c.(286-288)ttG>ttA	p.L96L		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	96							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AAACACCAGGCAAGTCATCCT	0.323													False	0	False	5:94877557	0	T	94877557	C	T	94877557	2	4	88	1	0	0	0	0	0	0	0	1	16789	709	25	2		2	TTC37	5	94877557	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59322	94877557	86037703	6120	13832											
ARSK	153642	broad.mit.edu	37	chr5	94901721	94901721	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatggaaggttaacatttcAtccaggaagtcaggtagtga	13	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94901721A>G	ENST00000380009.4	+	2	351	c.146A>G	c.(145-147)cAt>cGt	p.H49R		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	49						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TTAACATTTCATCCAGGAAGT	0.323													False	0	False	5:94901721	0	G	94901721	A	G	94901721	3	3	88	1	0	0	0	0	1	0	0	0	1000	217	8	4	152	4	ARSK	5	94901721	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24164	94901721	86013539	6121	13833											
SPATA9	83890	broad.mit.edu	37	chr5	95011277	95011277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatccacgaattaatgttgCtcgattaatcttagctaaag	6	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95011277C>T	ENST00000274432.8	-	3	358	c.217G>A	c.(217-219)Gca>Aca	p.A73T	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Missense_Mutation_p.A73T|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	73					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		ATTAATGTTGCTCGATTAATC	0.403													False	0	False	5:95011277	0	T	95011277	C	T	95011277	3	4	88	1	0	0	0	0	1	0	0	0	15098	797	28	2	559	2	SPATA9	5	95011277	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109556	95011277	85903983	6122	13834											
RHOBTB3	22836	broad.mit.edu	37	chr5	95072759	95072759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttccagtaattattgctgCtgttggtaccagacaaaatg	9	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95072759C>T	ENST00000379982.3	+	3	903	c.395C>T	c.(394-396)gCt>gTt	p.A132V		NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	132	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ATTATTGCTGCTGTTGGTACC	0.269													False	0	False	5:95072759	0	T	95072759	C	T	95072759	3	4	88	1	0	0	0	0	1	0	0	0	13414	797	28	2	405	2	RHOBTB3	5	95072759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61482	95072759	85842501	6123	13835											
RHOBTB3	22836	broad.mit.edu	37	chr5	95091253	95091253	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttctctgcgctgtaagccAtgttttcatgctgcttttca	8	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95091253A>C	ENST00000379982.3	+	6	1344	c.836A>C	c.(835-837)cAt>cCt	p.H279P	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	279	BTB 1.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCTGTAAGCCATGTTTTCATG	0.433													False	0	False	5:95091253	0	C	95091253	A	C	95091253	3	2	88	1	0	0	0	0	1	0	0	0	13414	217	8	4	858	4	RHOBTB3	5	95091253	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18494	95091253	85824007	6124	13836											
PCSK1	5122	broad.mit.edu	37	chr5	95728750	95728750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagagcttgaagcagccgGtcgtctctgtgcttgtaagg	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95728750G>A	ENST00000311106.3	-	14	2454	c.2217C>T	c.(2215-2217)gaC>gaT	p.D739D	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Silent_p.D692D	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	739	Amphipathic (Potential).				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAGCAGCCGGTCGTCTCTGT	0.403													False	0	False	5:95728750	0	A	95728750	G	A	95728750	2	1	88	1	0	0	0	0	0	0	0	1	11668	1252	44	2		2	PCSK1	5	95728750	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637497	95728750	85186510	6125	13837											
PCSK1	5122	broad.mit.edu	37	chr5	95746599	95746599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatggagatggtgtagatgCtgtctgtgtagccatcacag	14	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95746599C>A	ENST00000311106.3	-	8	1211	c.974G>T	c.(973-975)aGc>aTc	p.S325I	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Missense_Mutation_p.S278I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	325	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGTAGATGCTGTCTGTGTA	0.577													False	0	True	5:95746599	0	A	95746599	C	A	95746599	3	1	88	1	0	0	0	0	1	0	0	0	11668	797	28	3	1315	3	PCSK1	5	95746599	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17849	95746599	85168661	6126	13838											
PCSK1	5122	broad.mit.edu	37	chr5	95761565	95761565	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgggatcattgaagagatTtagtgctgagtcccttagag	12	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95761565T>G	ENST00000311106.3	-	3	592	c.355A>C	c.(355-357)Aat>Cat	p.N119H	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.N72H	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	119					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGAAGAGATTTAGTGCTGAG	0.408													False	0	True	5:95761565	0	G	95761565	T	G	95761565	3	3	88	1	0	0	0	0	1	0	0	0	11668	1841	64	4	1954	4	PCSK1	5	95761565	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14966	95761565	85153695	6127	13839											
CAST	831	broad.mit.edu	37	chr5	96107374	96107374	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaacttccaagccaaaAgatgactaaagaaatacaag	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96107374A>C	ENST00000395813.1	+	31	2553	c.2367A>C	c.(2365-2367)aaA>aaC	p.K789N	CAST_ENST00000508830.1_Missense_Mutation_p.K789N|CAST_ENST00000359176.4_Missense_Mutation_p.K770N|CAST_ENST00000509903.1_Missense_Mutation_p.K671N|CAST_ENST00000395812.2_Missense_Mutation_p.K748N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000511782.1_Missense_Mutation_p.K692N|CAST_ENST00000309190.5_Missense_Mutation_p.K684N|CAST_ENST00000510756.1_Missense_Mutation_p.K767N|CAST_ENST00000508608.1_Missense_Mutation_p.K752N|CAST_ENST00000325674.7_Missense_Mutation_p.K754N|CAST_ENST00000338252.3_Missense_Mutation_p.K693N|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000515663.1_Missense_Mutation_p.K429N|CAST_ENST00000508579.1_Missense_Mutation_p.K421N|CAST_ENST00000504465.1_Missense_Mutation_p.K634N|CAST_ENST00000511049.1_Missense_Mutation_p.K691N|CAST_ENST00000341926.3_Missense_Mutation_p.K706N	NM_001284213.1	NP_001271142.1	P20810	ICAL_HUMAN	calpastatin	706							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CCAAGCCAAAAGATGACTAAA	0.358													False	0	True	5:96107374	0	C	96107374	A	C	96107374	3	2	88	1	0	0	0	0	1	0	0	0	2704	69	3	4	2613	4	CAST	5	96107374	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	345809	96107374	84807886	6128	13840											
LNPEP	4012	broad.mit.edu	37	chr5	96315306	96315306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caacaaatgggaaattgtttCcatgggcacagatcaggctt	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96315306C>T	ENST00000231368.5	+	2	1176	c.484C>T	c.(484-486)Cca>Tca	p.P162S	LNPEP_ENST00000395770.3_Missense_Mutation_p.P148S	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	162					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAAATTGTTTCCATGGGCACA	0.463													False	0	True	5:96315306	0	T	96315306	C	T	96315306	3	4	88	1	0	0	0	0	1	0	0	0	8917	855	30	2	490	2	LNPEP	5	96315306	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207932	96315306	84599954	6129	13841											
LNPEP	4012	broad.mit.edu	37	chr5	96349496	96349496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgttctgagtgacaaagAccgagccaaccttatcaaca	7	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96349496A>G	ENST00000231368.5	+	12	2872	c.2180A>G	c.(2179-2181)gAc>gGc	p.D727G	LNPEP_ENST00000395770.3_Missense_Mutation_p.D713G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	727					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGTGACAAAGACCGAGCCAAC	0.323													False	0	False	5:96349496	0	G	96349496	A	G	96349496	3	3	88	1	0	0	0	0	1	0	0	0	8917	275	10	4	2226	4	LNPEP	5	96349496	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34190	96349496	84565764	6130	13842											
LIX1	167410	broad.mit.edu	37	chr5	96430577	96430577	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttctttgtaaaaccgtaGttcttgtcctgctttcctgg	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96430577G>A	ENST00000274382.4	-	6	1019	c.724C>T	c.(724-726)Cta>Tta	p.L242L	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	242										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TAAAACCGTAGTTCTTGTCCT	0.498													False	0	False	5:96430577	0	A	96430577	G	A	96430577	2	1	88	1	0	0	0	0	0	0	0	1	8884	1020	36	2		2	LIX1	5	96430577	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81081	96430577	84484683	6131	13843											
RGMB	285704	broad.mit.edu	37	chr5	98129023	98129023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacctgacccttgccatcCgtatgcctgaagacctggcc	9	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98129023C>T	ENST00000308234.7	+	5	1405	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	RGMB_ENST00000513185.1_Missense_Mutation_p.R294C	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	294					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CCTTGCCATCCGTATGCCTGA	0.612													False	0	False	5:98129023	0	T	98129023	C	T	98129023	3	4	88	1	0	0	0	0	1	0	0	0	13360	652	23	1	1017	1	RGMB	5	98129023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1698446	98129023	82786237	6132	13844											
CHD1	1105	broad.mit.edu	37	chr5	98192273	98192274	+	Frame_Shift_Ins	INS	-	-	CA													aagatttatggtgcgtatatINStcagaacttgaccggtggtc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98192273_98192274insCA	ENST00000284049.3	-	35	5092_5093	c.4943_4944insTG	c.(4942-4944)gaafs	p.E1648fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1648					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GGTGCGTATATTCAGAACTTGA	0.441													False	0	False	5:98192273	0	CA	98192274	-	CA	98192273	7	5	88	1	0	1	1	0	0	0	0	0	3346	1490	52	0	192	0	CHD1	5	98192273	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	63250	98192273	82722987	6133	13845	176	2									
CHD1	1105	broad.mit.edu	37	chr5	98192274	98192275	+	Frame_Shift_Ins	INS	-	-	AAAC													agatttatggtgcgtatattINScagaacttgaccggtggtct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98192274_98192275insAAAC	ENST00000284049.3	-	35	5091_5092	c.4942_4943insGTTT	c.(4942-4944)gaafs	p.E1648fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1648					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GTGCGTATATTCAGAACTTGAC	0.441													False	0	False	5:98192274	0	AAAC	98192275	-	AAAC	98192274	7	5	88	1	0	1	1	0	0	0	0	0	3346	1783	62	0	193	0	CHD1	5	98192274	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1	98192274	82722986	6134	13846	176	2									
CHD1	1105	broad.mit.edu	37	chr5	98209328	98209328	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgaagaactatccttTaatgctttaatgcaaccatt	5	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98209328T>C	ENST00000284049.3	-	25	3689	c.3540A>G	c.(3538-3540)ttA>ttG	p.L1180L		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1180					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AACTATCCTTTAATGCTTTAA	0.353													False	0	True	5:98209328	0	C	98209328	T	C	98209328	2	2	88	1	0	0	0	0	0	0	0	1	3346	1751	61	4		4	CHD1	5	98209328	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17054	98209328	82705932	6135	13847											
ST8SIA4	7903	broad.mit.edu	37	chr5	100191813	100191813	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtcacttaccctctgAcagcatgaataagtctcaat	5	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:100191813A>C	ENST00000231461.5	-	4	1101	c.791T>G	c.(790-792)gTc>gGc	p.V264G		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	264					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTACCCTCTGACAGCATGAAT	0.403													False	0	False	5:100191813	0	C	100191813	A	C	100191813	3	2	88	1	0	0	0	0	1	0	0	0	15316	275	10	4	296	4	ST8SIA4	5	100191813	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1982485	100191813	80723447	6136	13848											
SLCO4C1	353189	broad.mit.edu	37	chr5	101583122	101583122	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttatttctgttttcctttCaatacaggaacagttgtaat	6	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101583122C>T	ENST00000310954.6	-	10	1931	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	549	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	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)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTTTCCTTTCAATACAGGAA	0.299													False	0	True	5:101583122	0	T	101583122	C	T	101583122	3	4	88	1	0	0	0	0	1	0	0	0	14810	835	29	2	545	2	SLCO4C1	5	101583122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1391309	101583122	79332138	6137	13849											
SLCO4C1	353189	broad.mit.edu	37	chr5	101631905	101631905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcgacgcagacaagcggCgcaggatgtctgggctggag	19	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101631905C>T	ENST00000310954.6	-	1	348	c.62G>A	c.(61-63)cGc>cAc	p.R21H		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	21					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	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)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGACAAGCGGCGCAGGATGTC	0.572													False	0	False	5:101631905	0	T	101631905	C	T	101631905	3	4	88	1	0	0	0	0	1	0	0	0	14810	768	27	1	2164	1	SLCO4C1	5	101631905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48783	101631905	79283355	6138	13850											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834238	101834238	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcatgaagcagcgaatgTtattgcaacactcacagcag	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101834238T>C	ENST00000506729.1	-	1	482	c.311A>G	c.(310-312)aAc>aGc	p.N104S	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.N104S|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.N104S|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.N104S|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	104	Cys-rich.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCAGCGAATGTTATTGCAACA	0.537													False	0	False	5:101834238	0	C	101834238	T	C	101834238	3	2	88	1	0	0	0	0	1	0	0	0	14812	1725	60	4	1900	4	SLCO6A1	5	101834238	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	202333	101834238	79081022	6139	13851											
PAM	5066	broad.mit.edu	37	chr5	102295657	102295657	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgcagtttctttcatgacCtgtacccagaatgtagctcc	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102295657C>A	ENST00000438793.3	+	12	1454	c.984C>A	c.(982-984)acC>acA	p.T328T	PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Silent_p.T328T|PAM_ENST00000304400.7_Silent_p.T328T|PAM_ENST00000348126.2_Silent_p.T328T|PAM_ENST00000346918.2_Silent_p.T328T|PAM_ENST00000274392.9_Silent_p.T231T	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	328	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CTTTCATGACCTGTACCCAGA	0.408													False	0	False	5:102295657	0	A	102295657	C	A	102295657	2	1	88	1	0	0	0	0	0	0	0	1	11480	668	24	3		3	PAM	5	102295657	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	461419	102295657	78619603	6140	13852											
PAM	5066	broad.mit.edu	37	chr5	102343346	102343346	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagaaatgtatttgcaAtttcatatataccaggtatt	7	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102343346A>G	ENST00000438793.3	+	19	2670	c.2200A>G	c.(2200-2202)Att>Gtt	p.I734V	PAM_ENST00000379787.4_Missense_Mutation_p.I114V|PAM_ENST00000455264.2_Missense_Mutation_p.I734V|PAM_ENST00000304400.7_Missense_Mutation_p.I734V|PAM_ENST00000348126.2_Missense_Mutation_p.I627V|PAM_ENST00000346918.2_Missense_Mutation_p.I734V|PAM_ENST00000274392.9_Missense_Mutation_p.I637V	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	734	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTATTTGCAATTTCATATAT	0.333													False	0	True	5:102343346	0	G	102343346	A	G	102343346	3	3	88	1	0	0	0	0	1	0	0	0	11480	101	4	4	2274	4	PAM	5	102343346	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47689	102343346	78571914	6141	13853											
PAM	5066	broad.mit.edu	37	chr5	102364643	102364643	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgcaagccgtaagggCtacagtcgaaaagggtttga	12	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102364643C>A	ENST00000438793.3	+	25	3266	c.2796C>A	c.(2794-2796)ggC>ggA	p.G932G	PAM_ENST00000379787.4_Silent_p.G294G|PAM_ENST00000455264.2_Silent_p.G864G|PAM_ENST00000304400.7_Silent_p.G933G|PAM_ENST00000348126.2_Silent_p.G825G|PAM_ENST00000346918.2_Silent_p.G846G|PAM_ENST00000274392.9_Silent_p.G834G	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	932	Interaction with RASSF9 (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GCCGTAAGGGCTACAGTCGAA	0.448													False	0	True	5:102364643	0	A	102364643	C	A	102364643	2	1	88	1	0	0	0	0	0	0	0	1	11480	784	28	3		3	PAM	5	102364643	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21297	102364643	78550617	6142	13854											
NUDT12	83594	broad.mit.edu	37	chr5	102887938	102887938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttctctagtgaaccagcGggcatcctctatttcattct	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102887938G>A	ENST00000230792.2	-	6	1354	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	NUDT12_ENST00000507423.1_Missense_Mutation_p.R402C	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	420	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GTGAACCAGCGGGCATCCTCT	0.398													False	0	True	5:102887938	0	A	102887938	G	A	102887938	3	1	88	1	0	0	0	0	1	0	0	0	10796	1116	39	1	138	1	NUDT12	5	102887938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	523295	102887938	78027322	6143	13855											
FBXL17	64839	broad.mit.edu	37	chr5	107216798	107216798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctctgtgcaatcagggtGgctccttggtctgtgatttc	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:107216798G>A	ENST00000542267.1	-	8	2311	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	FBXL17_ENST00000359660.5_Silent_p.A237A|FBXL17_ENST00000496714.1_Silent_p.A237A	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	635										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CAATCAGGGTGGCTCCTTGGT	0.453													False	0	False	5:107216798	0	A	107216798	G	A	107216798	2	1	88	1	0	0	0	0	0	0	0	1	5753	1335	47	2		2	FBXL17	5	107216798	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4328860	107216798	73698462	6144	13856											
FBXL17	64839	broad.mit.edu	37	chr5	107559841	107559841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttggttaggtgaatgactCctttagaagtgactgaacaa	10	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:107559841C>T	ENST00000542267.1	-	5	2001	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	FBXL17_ENST00000359660.5_Missense_Mutation_p.G134E|FBXL17_ENST00000496714.1_Missense_Mutation_p.G134E	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	532										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GTGAATGACTCCTTTAGAAGT	0.398													False	0	False	5:107559841	0	T	107559841	C	T	107559841	3	4	88	1	0	0	0	0	1	0	0	0	5753	855	30	2	530	2	FBXL17	5	107559841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343043	107559841	73355419	6145	13857											
FER	2241	broad.mit.edu	37	chr5	108168620	108168620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttacataggtgttcatcaGcagatagaggcagagatgat	12	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108168620G>T	ENST00000281092.4	+	4	741	c.357G>T	c.(355-357)caG>caT	p.Q119H	FER_ENST00000536402.1_Missense_Mutation_p.Q119H|FER_ENST00000502752.1_3'UTR|FER_ENST00000438717.2_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	119	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTGTTCATCAGCAGATAGAGG	0.383													False	0	False	5:108168620	0	T	108168620	G	T	108168620	3	4	88	1	0	0	0	0	1	0	0	0	5853	962	34	3	363	3	FER	5	108168620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	608779	108168620	72746640	6146	13858											
FER	2241	broad.mit.edu	37	chr5	108281903	108281903	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaataattaggtctccaaaaTctgcactgggctcttcagca	8	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108281903T>G	ENST00000281092.4	+	11	1693	c.1309T>G	c.(1309-1311)Tct>Gct	p.S437A	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.S262A	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	437					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTCTCCAAAATCTGCACTGGG	0.378													False	0	True	5:108281903	0	G	108281903	T	G	108281903	3	3	88	1	0	0	0	0	1	0	0	0	5853	1435	50	4	1343	4	FER	5	108281903	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	113283	108281903	72633357	6147	13859											
FER	2241	broad.mit.edu	37	chr5	108290635	108290635	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcatacaatatgttgatgTacgtttccagtttagttcat	6	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108290635T>C	ENST00000281092.4	+	12	1917		c.e12+2		FER_ENST00000536402.1_Intron|FER_ENST00000438717.2_Splice_Site	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase						intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TATGTTGATGTACGTTTCCAG	0.348													False	0	False	5:108290635	0	C	108290635	T	C	108290635	5	2	88	1	0	0	0	0	0	0	1	0	5853	1652	57	4	1573	4	FER	5	108290635	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8732	108290635	72624625	6148	13860											
FER	2241	broad.mit.edu	37	chr5	108294941	108294941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagaacatgtatcgattcGagggcactgggttttcaaac	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108294941G>A	ENST00000281092.4	+	13	1933	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.E342K	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	517	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTATCGATTCGAGGGCACTGG	0.343													False	0	False	5:108294941	0	A	108294941	G	A	108294941	3	1	88	1	0	0	0	0	1	0	0	0	5853	1059	37	1	1591	1	FER	5	108294941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4306	108294941	72620319	6149	13861											
FER	2241	broad.mit.edu	37	chr5	108516459	108516459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaacctagggaccttgctgCaagaaactgcctggtaggtg	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108516459C>T	ENST00000281092.4	+	18	2444	c.2060C>T	c.(2059-2061)gCa>gTa	p.A687V	FER_ENST00000438717.2_Missense_Mutation_p.A512V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	687	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GACCTTGCTGCAAGAAACTGC	0.383													False	0	False	5:108516459	0	T	108516459	C	T	108516459	3	4	88	1	0	0	0	0	1	0	0	0	5853	710	25	2	2122	2	FER	5	108516459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221518	108516459	72398801	6150	13862											
FER	2241	broad.mit.edu	37	chr5	108516585	108516585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccattaaatggacagcacCggaagctcttaattatggta	8	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108516585C>T	ENST00000281092.4	+	18	2570	c.2186C>T	c.(2185-2187)cCg>cTg	p.P729L	FER_ENST00000438717.2_Missense_Mutation_p.P554L	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	729	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGACAGCACCGGAAGCTCTT	0.368													False	0	False	5:108516585	0	T	108516585	C	T	108516585	3	4	88	1	0	0	0	0	1	0	0	0	5853	652	23	1	2248	1	FER	5	108516585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126	108516585	72398675	6151	13863											
MAN2A1	4124	broad.mit.edu	37	chr5	109156033	109156033	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacctcttcttacctgatgGtaatgccaaggtaagtggta	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109156033G>T	ENST00000261483.4	+	15	3493	c.2441G>T	c.(2440-2442)gGt>gTt	p.G814V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	814					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTACCTGATGGTAATGCCAAG	0.343													False	0	False	5:109156033	0	T	109156033	G	T	109156033	3	4	88	1	0	0	0	0	1	0	0	0	9281	1261	44	3	2499	3	MAN2A1	5	109156033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	639448	109156033	71759227	6152	13864											
MAN2A1	4124	broad.mit.edu	37	chr5	109190997	109190997	+	Missense_Mutation	SNP	G	G	A													tacagtcatctttgccttgtGacattcatctggttaatttg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109190997G>A	ENST00000261483.4	+	20	4185	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1045					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTTGCCTTGTGACATTCATCT	0.353													False	0	False	5:109190997	0	A	109190997	G	A	109190997	3	1	88	1	0	0	0	0	1	0	0	0	9281	1290	45	2	3211	2	MAN2A1	5	109190997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34964	109190997	71724263	6153	13865	177	2									
MAN2A1	4124	broad.mit.edu	37	chr5	109191007	109191007	+	Missense_Mutation	SNP	T	T	C													tttgccttgtgacattcatcTggttaatttgagaacaatac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109191007T>C	ENST00000261483.4	+	20	4195	c.3143T>C	c.(3142-3144)cTg>cCg	p.L1048P	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1048					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GACATTCATCTGGTTAATTTG	0.358													False	0	False	5:109191007	0	C	109191007	T	C	109191007	3	2	88	1	0	0	0	0	1	0	0	0	9281	1580	55	4	3221	4	MAN2A1	5	109191007	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10	109191007	71724253	6154	13866	177	2									
MAN2A1	4124	broad.mit.edu	37	chr5	109202616	109202616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcactatccttgatgCattcacctcccggcactcag	5	16	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109202616C>T	ENST00000261483.4	+	22	4404	c.3352C>T	c.(3352-3354)Cat>Tat	p.H1118Y		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1118					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ATCCTTGATGCATTCACCTCC	0.358													False	0	False	5:109202616	0	T	109202616	C	T	109202616	3	4	88	1	0	0	0	0	1	0	0	0	9281	710	25	2	3438	2	MAN2A1	5	109202616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11609	109202616	71712644	6155	13867											
SLC25A46	91137	broad.mit.edu	37	chr5	110083868	110083868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttgttcaatttagggacCtagagccctgtggaaaggaa	11	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110083868C>A	ENST00000355943.3	+	5	593	c.467C>A	c.(466-468)cCt>cAt	p.P156H	SLC25A46_ENST00000513807.1_5'UTR|SLC25A46_ENST00000509442.2_Missense_Mutation_p.P65H|SLC25A46_ENST00000504098.1_Missense_Mutation_p.P10H|SLC25A46_ENST00000447245.2_Missense_Mutation_p.P156H	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	156					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		ATTTAGGGACCTAGAGCCCTG	0.358													False	0	False	5:110083868	0	A	110083868	C	A	110083868	3	1	88	1	0	0	0	0	1	0	0	0	14591	681	24	3	485	3	SLC25A46	5	110083868	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	881252	110083868	70831392	6156	13868											
TSLP	85480	broad.mit.edu	37	chr5	110409278	110409278	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgcgcgtcgctcgccaaaGaaatgttcgccatgaaaact	10	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110409278G>A	ENST00000420978.2	+	4	1708	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TSLP_ENST00000344895.3_Missense_Mutation_p.E96K|TSLP_ENST00000379706.4_5'UTR			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	96						extracellular space	cytokine activity	p.E96*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCTCGCCAAAGAAATGTTCGC	0.522													False	0	True	5:110409278	0	A	110409278	G	A	110409278	3	1	88	1	0	0	0	0	1	0	0	0	16711	943	33	2	296	2	TSLP	5	110409278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	325410	110409278	70505982	6157	13869											
CAMK4	814	broad.mit.edu	37	chr5	110818547	110818547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcaagctctccagcatcCgtgggtcacaggtaaagcag	10	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110818547C>T	ENST00000282356.4	+	10	1291	c.893C>T	c.(892-894)cCg>cTg	p.P298L	CAMK4_ENST00000512453.1_Missense_Mutation_p.P298L|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	298	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTCCAGCATCCGTGGGTCACA	0.408													False	0	False	5:110818547	0	T	110818547	C	T	110818547	3	4	88	1	0	0	0	0	1	0	0	0	2625	652	23	1	931	1	CAMK4	5	110818547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	409269	110818547	70096713	6158	13870											
STARD4	134429	broad.mit.edu	37	chr5	110835588	110835588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtattttgcctctcatAaagcttttcgtaaatcacca	5	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110835588A>G	ENST00000296632.3	-	6	748	c.614T>C	c.(613-615)tTa>tCa	p.L205S	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	205	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TGCCTCTCATAAAGCTTTTCG	0.408													False	0	True	5:110835588	0	G	110835588	A	G	110835588	3	3	88	1	0	0	0	0	1	0	0	0	15341	372	13	4	7	4	STARD4	5	110835588	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17041	110835588	70079672	6159	13871											
STARD4	134429	broad.mit.edu	37	chr5	110835647	110835647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccatggctgtatctacCgcagactgaggaatcatccc	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110835647C>T	ENST00000296632.3	-	6	689	c.555G>A	c.(553-555)gcG>gcA	p.A185A	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	185	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTGTATCTACCGCAGACTGAG	0.413													False	0	False	5:110835647	0	T	110835647	C	T	110835647	2	4	88	1	0	0	0	0	0	0	0	1	15341	639	23	1		1	STARD4	5	110835647	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59	110835647	70079613	6160	13872											
EPB41L4A	64097	broad.mit.edu	37	chr5	111519773	111519774	+	In_Frame_Ins	INS	-	-	ATATTTACCTTCTAATATTTGTGACATTTA													ttggtttttttccttttgtcINStccttaatacagcttcccac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111519773_111519774insATATTTACCTTCTAATATTTGTGACATTTA	ENST00000261486.5	-	18	1837_1838	c.1561_1562insTAAATGTCACAAATATTAGAAGGTAAATAT	c.(1561-1563)aga>aTAAATGTCACAAATATTAGAAGGTAAATATga	p.521_521R>INVTNIRR*I*	EPB41L4A_ENST00000507810.1_De_novo_Start_InFrame	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	521						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTCCTTTTGTCTCCTTAATACA	0.431													False	0	False	5:111519773	0	ATATTTACCTTCTAATATTTGTGACATTTA	111519774	-	ATATTTACCTTCTAATATTTGTGACATTTA	111519773	7	5	88	1	0	1	1	0	0	0	0	0	5187	913	32	0	522	0	EPB41L4A	5	111519773	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	684126	111519773	69395487	6161	13873											
EPB41L4A	64097	broad.mit.edu	37	chr5	111598231	111598231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccatacatctccagggatTtggcagtcctcaagtaattc	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111598231T>G	ENST00000261486.5	-	7	878	c.602A>C	c.(601-603)aAa>aCa	p.K201T		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	201	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTCCAGGGATTTGGCAGTCCT	0.403													False	0	True	5:111598231	0	G	111598231	T	G	111598231	3	3	88	1	0	0	0	0	1	0	0	0	5187	1841	64	4	1526	4	EPB41L4A	5	111598231	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78458	111598231	69317029	6162	13874											
EPB41L4A	64097	broad.mit.edu	37	chr5	111615981	111615981	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atacctactgttgatcagttCtttgtgttcagcaagggttt	9	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111615981C>T	ENST00000261486.5	-	3	520	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	82	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTGATCAGTTCTTTGTGTTCA	0.378													False	0	True	5:111615981	0	T	111615981	C	T	111615981	3	4	88	1	0	0	0	0	1	0	0	0	5187	922	32	2	1900	2	EPB41L4A	5	111615981	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17750	111615981	69299279	6163	13875											
EPB41L4A	64097	broad.mit.edu	37	chr5	111643154	111643154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtttacgtgatggaataCgtggtcaaggacaacggaac	13	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111643154C>T	ENST00000261486.5	-	2	409	c.133G>A	c.(133-135)Gta>Ata	p.V45I		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	45	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGATGGAATACGTGGTCAAGG	0.383													False	0	False	5:111643154	0	T	111643154	C	T	111643154	3	4	88	1	0	0	0	0	1	0	0	0	5187	536	19	1	2015	1	EPB41L4A	5	111643154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27173	111643154	69272106	6164	13876											
APC	324	broad.mit.edu	37	chr5	112111375	112111375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaggaaaaagactggTattacgctcaacttcagaat	8	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112111375T>C	ENST00000457016.1	+	5	852	c.472T>C	c.(472-474)Tat>Cat	p.Y158H	APC_ENST00000257430.4_Missense_Mutation_p.Y158H|APC_ENST00000508376.2_Missense_Mutation_p.Y158H			P25054	APC_HUMAN	adenomatous polyposis coli	158	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAAGACTGGTATTACGCTCA	0.289		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			False	0	False	5:112111375	0	C	112111375	T	C	112111375	3	2	88	1	0	0	0	0	1	0	0	0	765	1638	57	4	486	4	APC	5	112111375	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	468221	112111375	68803885	6165	13877											
APC	324	broad.mit.edu	37	chr5	112128185	112128185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatcgaaaaggacatacttCgtatacgacagcttttacag	7	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112128185C>T	ENST00000457016.1	+	7	1068	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	APC_ENST00000257430.4_Missense_Mutation_p.R230C|APC_ENST00000508376.2_Missense_Mutation_p.R230C			P25054	APC_HUMAN	adenomatous polyposis coli	230	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGACATACTTCGTATACGACA	0.308		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			False	0	False	5:112128185	0	T	112128185	C	T	112128185	3	4	88	1	0	0	0	0	1	0	0	0	765	884	31	1	710	1	APC	5	112128185	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16810	112128185	68787075	6166	13878											
APC	324	broad.mit.edu	37	chr5	112154761	112154761	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctagctcccaagacagctgTatatccatgcgacagtctgg	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112154761T>C	ENST00000457016.1	+	10	1412	c.1032T>C	c.(1030-1032)tgT>tgC	p.C344C	APC_ENST00000257430.4_Silent_p.C344C|APC_ENST00000508376.2_Silent_p.C344C			P25054	APC_HUMAN	adenomatous polyposis coli	344	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGACAGCTGTATATCCATGC	0.443		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			False	0	False	5:112154761	0	C	112154761	T	C	112154761	2	2	88	1	0	0	0	0	0	0	0	1	765	1644	57	4		4	APC	5	112154761	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26576	112154761	68760499	6167	13879											
APC	324	broad.mit.edu	37	chr5	112154849	112154849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtattgttgggaaattccCggggcagtaaagaggctcgg	15	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112154849C>T	ENST00000457016.1	+	10	1500	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	APC_ENST00000257430.4_Missense_Mutation_p.R374W|APC_ENST00000508376.2_Missense_Mutation_p.R374W			P25054	APC_HUMAN	adenomatous polyposis coli	374	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGGAAATTCCCGGGGCAGTAA	0.517		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			False	0	True	5:112154849	0	T	112154849	C	T	112154849	3	4	88	1	0	0	0	0	1	0	0	0	765	643	23	1	1154	1	APC	5	112154849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	112154849	68760411	6168	13880											
APC	324	broad.mit.edu	37	chr5	112176129	112176129	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaaccaagtcagctgcCtgtgtacaaacttctaccat	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112176129C>A	ENST00000457016.1	+	16	5218	c.4838C>A	c.(4837-4839)cCt>cAt	p.P1613H	APC_ENST00000257430.4_Missense_Mutation_p.P1613H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.P1613H			P25054	APC_HUMAN	adenomatous polyposis coli	1613	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGTCAGCTGCCTGTGTACAAA	0.463		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			False	0	False	5:112176129	0	A	112176129	C	A	112176129	3	1	88	1	0	0	0	0	1	0	0	0	765	681	24	3	4896	3	APC	5	112176129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21280	112176129	68739131	6169	13881											
DCP2	167227	broad.mit.edu	37	chr5	112321682	112321682	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataagagactttgctaaagcTgatatcctttttattactat	5	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112321682T>C	ENST00000389063.2	+	2	402	c.204T>C	c.(202-204)gcT>gcC	p.A68A	DCP2_ENST00000515408.1_Splice_Site_p.A68A|DCP2_ENST00000543319.1_Intron	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	68					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTGCTAAAGCTGATATCCTTT	0.328													False	0	False	5:112321682	0	C	112321682	T	C	112321682	5	2	88	1	0	0	0	0	0	0	1	0	4325	1594	55	4	210	4	DCP2	5	112321682	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	145553	112321682	68593578	6170	13882											
MCC	4163	broad.mit.edu	37	chr5	112399705	112399705	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtggctgttggaggaaaggCtctcccagggctgcacgctg	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112399705C>A	ENST00000302475.4	-	12	2182	c.1619G>T	c.(1618-1620)aGc>aTc	p.S540I	MCC_ENST00000515367.2_Missense_Mutation_p.S477I|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.S730I	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	540					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGAGGAAAGGCTCTCCCAGGG	0.617													False	0	False	5:112399705	0	A	112399705	C	A	112399705	3	1	88	1	0	0	0	0	1	0	0	0	9440	797	28	3	894	3	MCC	5	112399705	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78023	112399705	68515555	6171	13883											
MCC	4163	broad.mit.edu	37	chr5	112676295	112676295	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagtttgtggagagcaGcctgctgatgcaaagagctt	14	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112676295G>T	ENST00000408903.3	-	3	963	c.548C>A	c.(547-549)gCt>gAt	p.A183D	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTGGAGAGCAGCCTGCTGATG	0.557													False	0	False	5:112676295	0	T	112676295	G	T	112676295	3	4	88	1	0	0	0	0	1	0	0	0	9440	971	34	3	2640	3	MCC	5	112676295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	276590	112676295	68238965	6172	13884											
MCC	4163	broad.mit.edu	37	chr5	112720690	112720690	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgtcactgctcgtgggCcaggaagcaattctatccct	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112720690C>T	ENST00000408903.3	-	2	805	c.390G>A	c.(388-390)tgG>tgA	p.W130*	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGCTCGTGGGCCAGGAAGCAA	0.473													False	0	True	5:112720690	0	T	112720690	C	T	112720690	4	4	88	1	0	0	0	0	0	1	0	0	9440	740	26	2	2802	2	MCC	5	112720690	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44395	112720690	68194570	6173	13885											
TSSK1B	83942	broad.mit.edu	37	chr5	112770312	112770312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtctcaaagatctcgtaGgtcttaatgatggagcagtg	12	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112770312G>A	ENST00000390666.3	-	1	416	c.225C>T	c.(223-225)acC>acT	p.T75T	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	75	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AGATCTCGTAGGTCTTAATGA	0.532													False	0	False	5:112770312	0	A	112770312	G	A	112770312	2	1	88	1	0	0	0	0	0	0	0	1	16751	987	35	2		2	TSSK1B	5	112770312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49622	112770312	68144948	6174	13886											
YTHDC2	64848	broad.mit.edu	37	chr5	112849636	112849636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgcggcagccggctcctgGcggtggcggaggcggcggcc	20	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112849636G>T	ENST00000161863.4	+	1	257	c.44G>T	c.(43-45)gGc>gTc	p.G15V	YTHDC2_ENST00000515883.1_Missense_Mutation_p.G15V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	15	Gly-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CCGGCTCCTGGCGGTGGCGGA	0.706													False	0	True	5:112849636	0	T	112849636	G	T	112849636	3	4	88	1	0	0	0	0	1	0	0	0	17581	1203	42	3	46	3	YTHDC2	5	112849636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79324	112849636	68065624	6175	13887											
YTHDC2	64848	broad.mit.edu	37	chr5	112889540	112889540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaaaacccacctgcaggtGttcgaaaaatagtaagcttc	7	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112889540G>A	ENST00000161863.4	+	15	2254	c.2041G>A	c.(2041-2043)Gtt>Att	p.V681I	YTHDC2_ENST00000515883.1_Missense_Mutation_p.V681I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	681	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ACCTGCAGGTGTTCGAAAAAT	0.284													False	0	False	5:112889540	0	A	112889540	G	A	112889540	3	1	88	1	0	0	0	0	1	0	0	0	17581	1377	48	2	2099	2	YTHDC2	5	112889540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39904	112889540	68025720	6176	13888											
TRIM36	55521	broad.mit.edu	37	chr5	114462446	114462446	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcattagaagaagtaggtgaCttgggtataaaaaatttctg	10	3	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114462446C>A	ENST00000513154.1	-	10	2231	c.1905G>T	c.(1903-1905)aaG>aaT	p.K635N	TRIM36_ENST00000514154.1_Missense_Mutation_p.K492N|TRIM36_ENST00000282369.3_Missense_Mutation_p.K647N			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	647	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AAGTAGGTGACTTGGGTATAA	0.383													False	0	False	5:114462446	0	A	114462446	C	A	114462446	3	1	88	1	0	0	0	0	1	0	0	0	16593	564	20	3	249	3	TRIM36	5	114462446	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1572906	114462446	66452814	6177	13889											
TRIM36	55521	broad.mit.edu	37	chr5	114483023	114483023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gattcctcgttctccaagatCcacatcatgctcacagccag	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114483023C>A	ENST00000513154.1	-	3	657	c.331G>T	c.(331-333)Gat>Tat	p.D111Y	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000282369.3_Missense_Mutation_p.D123Y			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	123						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TCTCCAAGATCCACATCATGC	0.443													False	0	False	5:114483023	0	A	114483023	C	A	114483023	3	1	88	1	0	0	0	0	1	0	0	0	16593	855	30	3	1851	3	TRIM36	5	114483023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20577	114483023	66432237	6178	13890											
TRIM36	55521	broad.mit.edu	37	chr5	114499317	114499317	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcccacatcgttgaatgaatCatcgagagtcagcaggagtt	10	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114499317C>A	ENST00000513154.1	-	2	486	c.160G>T	c.(160-162)Gat>Tat	p.D54Y	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Missense_Mutation_p.D66Y			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	66						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTGAATGAATCATCGAGAGTC	0.458													False	0	True	5:114499317	0	A	114499317	C	A	114499317	3	1	88	1	0	0	0	0	1	0	0	0	16593	826	29	3	2026	3	TRIM36	5	114499317	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16294	114499317	66415943	6179	13891											
TRIM36	55521	broad.mit.edu	37	chr5	114515703	114515703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatcaattccatgatgtagCcaaattcactcatctcccca	3	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114515703C>T	ENST00000282369.3	-	1	153	c.32G>A	c.(31-33)gGc>gAc	p.G11D	TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379618.2_Missense_Mutation_p.G11D|TRIM36_ENST00000379617.2_Missense_Mutation_p.G11D	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	11						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CATGATGTAGCCAAATTCACT	0.557													False	0	False	5:114515703	0	T	114515703	C	T	114515703	3	4	88	1	0	0	0	0	1	0	0	0	16593	739	26	2	2445	2	TRIM36	5	114515703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16386	114515703	66399557	6180	13892											
CCDC112	153733	broad.mit.edu	37	chr5	114604698	114604698	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctactaacattgttttcaacCtgtaatcagaagtaaaatag	5	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114604698C>A	ENST00000379611.5	-	9	1716		c.e9-1		CCDC112_ENST00000395557.4_Splice_Site|CCDC112_ENST00000512261.1_Splice_Site|CCDC112_ENST00000506442.1_Splice_Site	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112											endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TGTTTTCAACCTGTAATCAGA	0.368													False	0	False	5:114604698	0	A	114604698	C	A	114604698	5	1	88	1	0	0	0	0	0	0	1	0	2769	695	24	3	169	3	CCDC112	5	114604698	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88995	114604698	66310562	6181	13893											
CCDC112	153733	broad.mit.edu	37	chr5	114605433	114605433	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgccagtcttctttgtttTtgtgacttttcatcttcctt	5	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114605433T>G	ENST00000379611.5	-	8	1682	c.1395A>C	c.(1393-1395)caA>caC	p.Q465H	CCDC112_ENST00000395557.4_Missense_Mutation_p.Q382H|CCDC112_ENST00000512261.1_Missense_Mutation_p.Q382H|CCDC112_ENST00000506442.1_Intron	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	382										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTCTTTGTTTTTGTGACTTTT	0.308													False	0	True	5:114605433	0	G	114605433	T	G	114605433	3	3	88	1	0	0	0	0	1	0	0	0	2769	1838	64	4	206	4	CCDC112	5	114605433	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	735	114605433	66309827	6182	13894											
CCDC112	153733	broad.mit.edu	37	chr5	114611181	114611181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtctacaggaactttgCttgagattgctctgaaagct	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114611181C>T	ENST00000379611.5	-	6	937	c.650G>A	c.(649-651)aGc>aAc	p.S217N	CCDC112_ENST00000395557.4_Missense_Mutation_p.S134N|CCDC112_ENST00000512261.1_Missense_Mutation_p.S134N|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000506442.1_Missense_Mutation_p.S134N	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	134										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		AGGAACTTTGCTTGAGATTGC	0.408													False	0	False	5:114611181	0	T	114611181	C	T	114611181	3	4	88	1	0	0	0	0	1	0	0	0	2769	797	28	2	959	2	CCDC112	5	114611181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5748	114611181	66304079	6183	13895											
CCDC112	153733	broad.mit.edu	37	chr5	114615393	114615393	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttccaattcttctagcatActatgctcaattctgaagtc	4	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114615393A>G	ENST00000379611.5	-	3	599	c.312T>C	c.(310-312)agT>agC	p.S104S	CCDC112_ENST00000395557.4_Silent_p.S21S|CCDC112_ENST00000512261.1_Silent_p.S21S|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000506442.1_Silent_p.S21S	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	21										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTTCTAGCATACTATGCTCAA	0.294													False	0	False	5:114615393	0	G	114615393	A	G	114615393	2	3	88	1	0	0	0	0	0	0	0	1	2769	388	14	4		4	CCDC112	5	114615393	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4212	114615393	66299867	6184	13896											
TMED7	51014	broad.mit.edu	37	chr5	114956247	114956247	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaattcattgctgaagcaaAatttgtatgtcccatttttg	6	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114956247A>C	ENST00000456936.3	-	2	703	c.323T>G	c.(322-324)tTt>tGt	p.F108C	TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.F108C|AC010226.4_ENST00000515570.1_RNA|TMED7_ENST00000503010.1_5'UTR|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.F108C|TICAM2_ENST00000408996.4_Missense_Mutation_p.F108C	NM_181836.5	NP_861974.1			transmembrane emp24 protein transport domain containing 7											breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		GCTGAAGCAAAATTTGTATGT	0.353													False	0	True	5:114956247	0	C	114956247	A	C	114956247	3	2	88	1	0	0	0	0	1	0	0	0	16091	14	1	4	359	4	TMED7	5	114956247	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	340854	114956247	65959013	6185	13897											
AQPEP	0	broad.mit.edu	37	chr5	115361774	115361774	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctgaaaaacaagaagCtaagtgccaggatagctgcg	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115361774C>T	ENST00000357872.4	+	20	3056	c.2932C>T	c.(2932-2934)Cta>Tta	p.L978L	CTD-2287O16.3_ENST00000600981.3_Intron	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		978					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AAACAAGAAGCTAAGTGCCAG	0.403													False	0	False	5:115361774	0	T	115361774	C	T	115361774	2	4	88	1	0	0	0	0	0	0	0	1	836	796	28	2		2	AQPEP	5	115361774	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	405527	115361774	65553486	6186	13898											
SEMA6A	57556	broad.mit.edu	37	chr5	115813812	115813812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctctgtccagctgcatgCccatgatccttttgtcttcg	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115813812C>T	ENST00000343348.6	-	14	2253	c.1466G>A	c.(1465-1467)gGc>gAc	p.G489D	CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.G489D|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.G21D|SEMA6A_ENST00000257414.8_Missense_Mutation_p.G489D	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	489	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAGCTGCATGCCCATGATCCT	0.458													False	0	True	5:115813812	0	T	115813812	C	T	115813812	3	4	88	1	0	0	0	0	1	0	0	0	14120	739	26	2	1650	2	SEMA6A	5	115813812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	452038	115813812	65101448	6187	13899											
SEMA6A	57556	broad.mit.edu	37	chr5	115814375	115814375	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagtgtgattctgatatggCccagcagctgtgtccactgc	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115814375C>A	ENST00000343348.6	-	13	2077	c.1290G>T	c.(1288-1290)ggG>ggT	p.G430G	CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.G430G|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.G430G	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	430	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCTGATATGGCCCAGCAGCTG	0.413													False	0	True	5:115814375	0	A	115814375	C	A	115814375	2	1	88	1	0	0	0	0	0	0	0	1	14120	726	26	3		3	SEMA6A	5	115814375	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	563	115814375	65100885	6188	13900											
SEMA6A	57556	broad.mit.edu	37	chr5	115832009	115832009	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctagatttccatgtcagttTctgcagggatcaagaaagaa	9	7	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115832009T>C	ENST00000343348.6	-	5	1067	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E	CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Splice_Site_p.K94E|SEMA6A_ENST00000257414.8_Splice_Site_p.K94E|SEMA6A_ENST00000503962.1_5'UTR	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	94	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		catgtcagtttctgcagggat	0.423													False	0	True	5:115832009	0	C	115832009	T	C	115832009	5	2	88	1	0	0	0	0	0	0	1	0	14120	1797	62	4	2872	4	SEMA6A	5	115832009	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17634	115832009	65083251	6189	13901											
DMXL1	1657	broad.mit.edu	37	chr5	118469685	118469685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgacacaacaaaataaaaGcactgttgacgtggcatttc	7	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118469685G>T	ENST00000311085.8	+	12	2146	c.2066G>T	c.(2065-2067)aGc>aTc	p.S689I	DMXL1_ENST00000539542.1_Missense_Mutation_p.S689I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	689										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAAAATAAAAGCACTGTTGAC	0.423													False	0	True	5:118469685	0	T	118469685	G	T	118469685	3	4	88	1	0	0	0	0	1	0	0	0	4624	971	34	3	2112	3	DMXL1	5	118469685	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2637676	118469685	62445575	6190	13902											
DMXL1	1657	broad.mit.edu	37	chr5	118484538	118484538	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctggagatgcagagtaacaGatggagaatctgccacgtca	12	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118484538G>T	ENST00000311085.8	+	18	3096	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.D1006Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1006										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAGAGTAACAGATGGAGAATC	0.383													False	0	False	5:118484538	0	T	118484538	G	T	118484538	3	4	88	1	0	0	0	0	1	0	0	0	4624	942	33	3	3086	3	DMXL1	5	118484538	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14853	118484538	62430722	6191	13903											
DMXL1	1657	broad.mit.edu	37	chr5	118485814	118485814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatctagtaatgagagtaCgttaagtaaatcaaaccaat	7	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118485814C>T	ENST00000311085.8	+	18	4372	c.4292C>T	c.(4291-4293)aCg>aTg	p.T1431M	DMXL1_ENST00000539542.1_Missense_Mutation_p.T1431M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1431								p.T1431M(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AATGAGAGTACGTTAAGTAAA	0.338													False	0	False	5:118485814	0	T	118485814	C	T	118485814	3	4	88	1	0	0	0	0	1	0	0	0	4624	536	19	1	4362	1	DMXL1	5	118485814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1276	118485814	62429446	6192	13904											
HSD17B4	3295	broad.mit.edu	37	chr5	118861665	118861665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttggattttctgccaggCgtgtgttacagcagtttgca	11	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118861665C>T	ENST00000504811.1	+	20	1886	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	HSD17B4_ENST00000509514.1_Missense_Mutation_p.R281C|HSD17B4_ENST00000256216.6_Missense_Mutation_p.R543C|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.R525C|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R403C|HSD17B4_ENST00000510025.1_Missense_Mutation_p.R519C|HSD17B4_ENST00000513628.1_Missense_Mutation_p.R406C	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	543	Enoyl-CoA hydratase 2.|MaoC-like.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TTCTGCCAGGCGTGTGTTACA	0.343													False	0	True	5:118861665	0	T	118861665	C	T	118861665	3	4	88	1	0	0	0	0	1	0	0	0	7433	768	27	1	1701	1	HSD17B4	5	118861665	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375851	118861665	62053595	6193	13905											
HSD17B4	3295	broad.mit.edu	37	chr5	118867031	118867031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggatattgggcctgaggTggtgaagaaagtaaatgctg	15	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118867031T>C	ENST00000504811.1	+	23	2184	c.2000T>C	c.(1999-2001)gTg>gCg	p.V667A	HSD17B4_ENST00000509514.1_Missense_Mutation_p.V380A|HSD17B4_ENST00000256216.6_Missense_Mutation_p.V642A|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.V624A|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V502A|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V618A|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V505A	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	642	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GGGCCTGAGGTGGTGAAGAAA	0.393													False	0	False	5:118867031	0	C	118867031	T	C	118867031	3	2	88	1	0	0	0	0	1	0	0	0	7433	1696	59	4	2011	4	HSD17B4	5	118867031	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5366	118867031	62048229	6194	13906											
HSD17B4	3295	broad.mit.edu	37	chr5	118872225	118872225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcatggaggtggtcctgGgcaagcttgaccctcagaag	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118872225G>A	ENST00000504811.1	+	24	2360	c.2176G>A	c.(2176-2178)Ggc>Agc	p.G726S	HSD17B4_ENST00000509514.1_Missense_Mutation_p.G439S|HSD17B4_ENST00000256216.6_Missense_Mutation_p.G701S|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.G683S|HSD17B4_ENST00000414835.2_Missense_Mutation_p.G561S|HSD17B4_ENST00000510025.1_Missense_Mutation_p.G677S|HSD17B4_ENST00000513628.1_Missense_Mutation_p.G564S	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	701	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GGTGGTCCTGGGCAAGCTTGA	0.403													False	0	True	5:118872225	0	A	118872225	G	A	118872225	3	1	88	1	0	0	0	0	1	0	0	0	7433	1232	43	2	2191	2	HSD17B4	5	118872225	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5194	118872225	62043035	6195	13907											
PRR16	51334	broad.mit.edu	37	chr5	119800284	119800284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagatcaagatcatcgtgGaggatttggaattagtcctg	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:119800284G>A	ENST00000407149.2	+	1	312	c.103G>A	c.(103-105)Gag>Aag	p.E35K	PRR16_ENST00000379551.2_5'UTR			Q569H4	PRR16_HUMAN	proline rich 16	35										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GATCATCGTGGAGGATTTGGA	0.602													False	0	False	5:119800284	0	A	119800284	G	A	119800284	3	1	88	1	0	0	0	0	1	0	0	0	12665	1189	41	2		2	PRR16	5	119800284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	928059	119800284	61114976	6196	13908											
PRR16	51334	broad.mit.edu	37	chr5	120022128	120022128	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaatgaaaaagtacagtaCcatggctattgtcctgactg	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:120022128C>A	ENST00000379551.2	+	3	927	c.570C>A	c.(568-570)taC>taA	p.Y190*	PRR16_ENST00000407149.2_Nonsense_Mutation_p.Y213*|PRR16_ENST00000446965.1_Nonsense_Mutation_p.Y143*|PRR16_ENST00000505123.1_Nonsense_Mutation_p.Y143*	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	213	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AAGTACAGTACCATGGCTATT	0.488													False	0	True	5:120022128	0	A	120022128	C	A	120022128	4	1	88	1	0	0	0	0	0	1	0	0	12665	518	18	3	576	3	PRR16	5	120022128	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221844	120022128	60893132	6197	13909											
FTMT	94033	broad.mit.edu	37	chr5	121187676	121187676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatgctgtcctgcttcagGctcctctccaggcacatcag	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121187676G>A	ENST00000321339.1	+	1	27	c.18G>A	c.(16-18)agG>agA	p.R6R		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	6					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTGCTTCAGGCTCCTCTCCA	0.697													False	0	False	5:121187676	0	A	121187676	G	A	121187676	2	1	88	1	0	0	0	0	0	0	0	1	6127	1194	42	2		2	FTMT	5	121187676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1165548	121187676	59727584	6198	13910											
FTMT	94033	broad.mit.edu	37	chr5	121187812	121187812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgccgccccctggccgcaGccgcctcctcccgggaccct	10	25	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121187812G>A	ENST00000321339.1	+	1	163	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	52					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTGGCCGCAGCCGCCTCCTC	0.766													False	0	False	5:121187812	0	A	121187812	G	A	121187812	3	1	88	1	0	0	0	0	1	0	0	0	6127	971	34	2	156	2	FTMT	5	121187812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136	121187812	59727448	6199	13911											
FTMT	94033	broad.mit.edu	37	chr5	121188106	121188106	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacatcaagaagccggaaCaggacgactgggaaagcggg	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121188106C>T	ENST00000321339.1	+	1	457	c.448C>T	c.(448-450)Cag>Tag	p.Q150*		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	150	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GAAGCCGGAACAGGACGACTG	0.592													False	0	False	5:121188106	0	T	121188106	C	T	121188106	4	4	88	1	0	0	0	0	0	1	0	0	6127	479	17	2	450	2	FTMT	5	121188106	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294	121188106	59727154	6200	13912											
SRFBP1	153443	broad.mit.edu	37	chr5	121362759	121362759	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgggaagcaagcagaaggCgaaaagaacagcaatctaat	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121362759C>T	ENST00000339397.4	+	8	1300	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	SRFBP1_ENST00000504881.1_Intron	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		p.R410*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AAGCAGAAGGCGAAAAGAACA	0.363													False	0	False	5:121362759	0	T	121362759	C	T	121362759	4	4	88	1	0	0	0	0	0	1	0	0	15226	760	27	1	1258	1	SRFBP1	5	121362759	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174653	121362759	59552501	6201	13913											
ZNF474	133923	broad.mit.edu	37	chr5	121488445	121488445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaatggaaaatgaccggCtccctgtggagctccaccag	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121488445C>T	ENST00000296600.4	+	2	1143	c.760C>T	c.(760-762)Ctc>Ttc	p.L254F	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	254						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AAATGACCGGCTCCCTGTGGA	0.522													False	0	False	5:121488445	0	T	121488445	C	T	121488445	3	4	88	1	0	0	0	0	1	0	0	0	18015	797	28	2	762	2	ZNF474	5	121488445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125686	121488445	59426815	6202	13914											
SNCAIP	9627	broad.mit.edu	37	chr5	121785597	121785597	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caacaatttctagaagcccaGaaatcagagggcaagtcact	8	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121785597G>A	ENST00000261367.7	+	11	3219	c.1791G>A	c.(1789-1791)caG>caA	p.Q597Q	SNCAIP_ENST00000542191.1_Silent_p.Q108Q|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.Q152Q|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Silent_p.Q184Q|SNCAIP_ENST00000379533.2_Silent_p.Q597Q|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.Q490Q|SNCAIP_ENST00000261368.8_Silent_p.Q550Q|SNCAIP_ENST00000503116.2_3'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	550					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TAGAAGCCCAGAAATCAGAGG	0.428													False	0	True	5:121785597	0	A	121785597	G	A	121785597	2	1	88	1	0	0	0	0	0	0	0	1	14921	933	33	2		2	SNCAIP	5	121785597	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297152	121785597	59129663	6203	13915											
SNCAIP	9627	broad.mit.edu	37	chr5	121786740	121786740	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcagggggacgcaggtTtcctttcagcatcaaggcct	13	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786740T>G	ENST00000261367.7	+	12	3767	c.2339T>G	c.(2338-2340)tTt>tGt	p.F780C	SNCAIP_ENST00000542191.1_Missense_Mutation_p.F291C|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.F335C|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.F367C|SNCAIP_ENST00000379533.2_Missense_Mutation_p.F780C|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.F673C|SNCAIP_ENST00000261368.8_Missense_Mutation_p.F733C|SNCAIP_ENST00000503116.2_3'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	733					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGACGCAGGTTTCCTTTCAGC	0.542													False	0	True	5:121786740	0	G	121786740	T	G	121786740	3	3	88	1	0	0	0	0	1	0	0	0	14921	1841	64	4	2232	4	SNCAIP	5	121786740	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1143	121786740	59128520	6204	13916											
SNCAIP	9627	broad.mit.edu	37	chr5	121786784	121786784	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatccctggatggccacagcCcatctcccacctcagagagc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786784C>A	ENST00000261367.7	+	12	3811	c.2383C>A	c.(2383-2385)Cca>Aca	p.P795T	SNCAIP_ENST00000542191.1_Missense_Mutation_p.P306T|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P350T|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P382T|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P795T|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P688T|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P748T|SNCAIP_ENST00000503116.2_3'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	748					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGCCACAGCCCATCTCCCAC	0.552													False	0	True	5:121786784	0	A	121786784	C	A	121786784	3	1	88	1	0	0	0	0	1	0	0	0	14921	623	22	3	2276	3	SNCAIP	5	121786784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	121786784	59128476	6205	13917											
SNCAIP	9627	broad.mit.edu	37	chr5	121786879	121786879	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccctctggtgaccctcaGcagcccagccctgacagtac	9	18	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786879G>T	ENST00000261367.7	+	12	3906	c.2478G>T	c.(2476-2478)caG>caT	p.Q826H	SNCAIP_ENST00000542191.1_Missense_Mutation_p.Q337H|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.Q381H|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.Q413H|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Q826H|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Q719H|SNCAIP_ENST00000261368.8_Missense_Mutation_p.Q779H|SNCAIP_ENST00000503116.2_3'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	779					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTGACCCTCAGCAGCCCAGCC	0.547													False	0	True	5:121786879	0	T	121786879	G	T	121786879	3	4	88	1	0	0	0	0	1	0	0	0	14921	962	34	3	2371	3	SNCAIP	5	121786879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95	121786879	59128381	6206	13918											
SNX2	6643	broad.mit.edu	37	chr5	122152613	122152613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcattcaattccagctgCctagagcagttaatacacag	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122152613C>T	ENST00000379516.2	+	9	910	c.802C>T	c.(802-804)Cct>Tct	p.P268S	SNX2_ENST00000514949.1_Missense_Mutation_p.P151S|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	268	PX.				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		ATTCCAGCTGCCTAGAGCAGT	0.488													False	0	False	5:122152613	0	T	122152613	C	T	122152613	3	4	88	1	0	0	0	0	1	0	0	0	14971	739	26	2	836	2	SNX2	5	122152613	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	365734	122152613	58762647	6207	13919											
SNX24	28966	broad.mit.edu	37	chr5	122337670	122337670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtgctgctgttcctcaGggatccatatgtcttgcctg	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122337670G>T	ENST00000261369.4	+	6	598	c.413G>T	c.(412-414)aGg>aTg	p.R138M	SNX24_ENST00000506996.1_Missense_Mutation_p.R138M|SNX24_ENST00000513881.1_Missense_Mutation_p.R138M|SNX24_ENST00000395451.4_Missense_Mutation_p.R171M	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	138					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CTGTTCCTCAGGGATCCATAT	0.483													False	0	True	5:122337670	0	T	122337670	G	T	122337670	3	4	88	1	0	0	0	0	1	0	0	0	14975	1000	35	3	435	3	SNX24	5	122337670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185057	122337670	58577590	6208	13920											
PPIC	5480	broad.mit.edu	37	chr5	122361664	122361664	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccatagatgctcacacCtgagacaaaacaaggaagaa	7	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122361664C>A	ENST00000306442.4	-	4	441		c.e4-1			NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)						protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	ATGCTCACACCTGAGACAAAA	0.453													False	0	False	5:122361664	0	A	122361664	C	A	122361664	5	1	88	1	0	0	0	0	0	0	1	0	12394	695	24	3	321	3	PPIC	5	122361664	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23994	122361664	58553596	6209	13921											
CEP120	153241	broad.mit.edu	37	chr5	122713160	122713160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcctctttggccctacGgatagagtcctgcagttctt	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122713160G>A	ENST00000306467.5	-	16	2570	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C	CEP120_ENST00000328236.5_Missense_Mutation_p.R756C|CEP120_ENST00000306481.6_Missense_Mutation_p.R730C			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	756						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTGGCCCTACGGATAGAGTCC	0.428													False	0	False	5:122713160	0	A	122713160	G	A	122713160	3	1	88	1	0	0	0	0	1	0	0	0	3269	1116	39	1	714	1	CEP120	5	122713160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	351496	122713160	58202100	6210	13922											
CEP120	153241	broad.mit.edu	37	chr5	122718760	122718760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgtaagaaagatctgCtatcctgttatttgatctac	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122718760C>T	ENST00000306467.5	-	12	2084	c.1780G>A	c.(1780-1782)Gca>Aca	p.A594T	CEP120_ENST00000328236.5_Missense_Mutation_p.A594T|CEP120_ENST00000306481.6_Missense_Mutation_p.A568T			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	594						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GAAAGATCTGCTATCCTGTTA	0.279													False	0	False	5:122718760	0	T	122718760	C	T	122718760	3	4	88	1	0	0	0	0	1	0	0	0	3269	797	28	2	1216	2	CEP120	5	122718760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5600	122718760	58196500	6211	13923											
CEP120	153241	broad.mit.edu	37	chr5	122720769	122720769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctggattctcgcaattcCcagaagtaaatctttactca	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122720769C>T	ENST00000306467.5	-	11	1943	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	CEP120_ENST00000328236.5_Missense_Mutation_p.G547R|CEP120_ENST00000306481.6_Missense_Mutation_p.G521R			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	547						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CTCGCAATTCCCAGAAGTAAA	0.373													False	0	True	5:122720769	0	T	122720769	C	T	122720769	3	4	88	1	0	0	0	0	1	0	0	0	3269	632	22	2	1361	2	CEP120	5	122720769	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2009	122720769	58194491	6212	13924											
CEP120	153241	broad.mit.edu	37	chr5	122734865	122734865	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatgctatggtcactgAcataataaaggagtcagtac	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122734865A>C	ENST00000306467.5	-	5	881	c.577T>G	c.(577-579)Tca>Gca	p.S193A	CEP120_ENST00000328236.5_Missense_Mutation_p.S193A|CEP120_ENST00000306481.6_Missense_Mutation_p.S167A|CEP120_ENST00000395431.2_Missense_Mutation_p.S193A			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	193						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ATGGTCACTGACATAATAAAG	0.428													False	0	False	5:122734865	0	C	122734865	A	C	122734865	3	2	88	1	0	0	0	0	1	0	0	0	3269	275	10	4	2447	4	CEP120	5	122734865	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14096	122734865	58180395	6213	13925											
CEP120	153241	broad.mit.edu	37	chr5	122751810	122751810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attggagtttgataggagtaCgctgtagcctataacaaaac	10	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122751810C>T	ENST00000306467.5	-	3	519	c.215G>A	c.(214-216)cGt>cAt	p.R72H	CEP120_ENST00000328236.5_Missense_Mutation_p.R72H|CEP120_ENST00000306481.6_Missense_Mutation_p.R46H|CEP120_ENST00000395431.2_Missense_Mutation_p.R72H			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	72						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GATAGGAGTACGCTGTAGCCT	0.338													False	0	False	5:122751810	0	T	122751810	C	T	122751810	3	4	88	1	0	0	0	0	1	0	0	0	3269	536	19	1	2817	1	CEP120	5	122751810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16945	122751810	58163450	6214	13926											
ZNF608	57507	broad.mit.edu	37	chr5	123984658	123984658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcgtccgctggcattgagGctgccccgcctccctttccc	9	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:123984658G>T	ENST00000306315.5	-	4	1854	c.1419C>A	c.(1417-1419)agC>agA	p.S473R	ZNF608_ENST00000504926.1_Missense_Mutation_p.S46R	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	473						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGGCATTGAGGCTGCCCCGCC	0.592													False	0	False	5:123984658	0	T	123984658	G	T	123984658	3	4	88	1	0	0	0	0	1	0	0	0	18117	1194	42	3	3143	3	ZNF608	5	123984658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1232848	123984658	56930602	6215	13927											
ALDH7A1	501	broad.mit.edu	37	chr5	125889982	125889982	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagcatcccttaccttGcccccatagaccactgtgcc	6	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:125889982G>A	ENST00000409134.3	-	13	1416	c.1197C>T	c.(1195-1197)ggC>ggT	p.G399G	ALDH7A1_ENST00000447989.2_Intron|ALDH7A1_ENST00000553117.1_Intron	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	399					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCCTTACCTTGCCCCCATAGA	0.493													False	0	True	5:125889982	0	A	125889982	G	A	125889982	2	1	88	1	0	0	0	0	0	0	0	1	504	1306	46	2		2	ALDH7A1	5	125889982	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1905324	125889982	55025278	6216	13928											
C5orf48	389320	broad.mit.edu	37	chr5	125971724	125971724	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattttcttttctcttagCaagcagaagtgtgtgggatc	10	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:125971724C>T	ENST00000357147.3	+	3	209	c.196C>T	c.(196-198)Caa>Taa	p.Q66*		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	66										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						TTTCTCTTAGCAAGCAGAAGT	0.403													False	0	True	5:125971724	0	T	125971724	C	T	125971724	5	4	88	1	0	0	0	0	0	0	1	0	2323	724	25	2	206	2	C5orf48	5	125971724	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81742	125971724	54943536	6217	13929											
MEGF10	84466	broad.mit.edu	37	chr5	126674903	126674903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaactggtttaaatgcAcgcggcacaggtaatagaag	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126674903A>G	ENST00000274473.6	+	4	475	c.208A>G	c.(208-210)Acg>Gcg	p.T70A	MEGF10_ENST00000418761.2_Missense_Mutation_p.T70A|MEGF10_ENST00000503335.2_Missense_Mutation_p.T70A|MEGF10_ENST00000508365.1_Missense_Mutation_p.T70A	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	70	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTTTAAATGCACGCGGCACAG	0.413													False	0	False	5:126674903	0	G	126674903	A	G	126674903	3	3	88	1	0	0	0	0	1	0	0	0	9527	159	6	4	214	4	MEGF10	5	126674903	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	703179	126674903	54240357	6218	13930											
MEGF10	84466	broad.mit.edu	37	chr5	126758443	126758443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctaccacgggccattgcCgctgcctccccggatggtca	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126758443C>T	ENST00000274473.6	+	14	1939	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	MEGF10_ENST00000418761.2_Missense_Mutation_p.R558C|MEGF10_ENST00000503335.2_Missense_Mutation_p.R558C|MEGF10_ENST00000508365.1_Missense_Mutation_p.R558C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	558	EGF-like 10.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGGCCATTGCCGCTGCCTCCC	0.567													False	0	False	5:126758443	0	T	126758443	C	T	126758443	3	4	88	1	0	0	0	0	1	0	0	0	9527	652	23	1	1718	1	MEGF10	5	126758443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83540	126758443	54156817	6219	13931											
MEGF10	84466	broad.mit.edu	37	chr5	126771137	126771137	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgtaaccccattgacagatCttgtcagtgttaccccggtt	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126771137C>T	ENST00000274473.6	+	17	2327	c.2060C>T	c.(2059-2061)tCt>tTt	p.S687F	MEGF10_ENST00000503335.2_Missense_Mutation_p.S687F	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	687	EGF-like 12.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATTGACAGATCTTGTCAGTGT	0.413													False	0	False	5:126771137	0	T	126771137	C	T	126771137	3	4	88	1	0	0	0	0	1	0	0	0	9527	913	32	2	2118	2	MEGF10	5	126771137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12694	126771137	54144123	6220	13932											
MEGF10	84466	broad.mit.edu	37	chr5	126781188	126781188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatctgaacagcttaagccGaaccagtactgctctccctg	7	13	2	1	rs138372925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126781188G>A	ENST00000274473.6	+	21	2798	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q	MEGF10_ENST00000503335.2_Missense_Mutation_p.R844Q|MEGF10_ENST00000510828.1_Intron	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	844	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCTTAAGCCGAACCAGTACT	0.438													False	0	False	5:126781188	0	A	126781188	G	A	126781188	3	1	88	1	0	0	0	0	1	0	0	0	9527	1058	37	1	2605	1	MEGF10	5	126781188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10051	126781188	54134072	6221	13933											
PRRC1	133619	broad.mit.edu	37	chr5	126883688	126883688	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcagaataaaaatttgttCggtttttttgttagaaatat	6	2	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126883688C>T	ENST00000442138.2	+	8	1349	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	PRRC1_ENST00000513427.1_Intron|PRRC1_ENST00000296666.8_Intron|PRRC1_ENST00000512635.2_Intron			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	0						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		AAAATTTGTTCGGTTTTTTTG	0.299													False	0	False	5:126883688	0	T	126883688	C	T	126883688	2	4	88	1	0	0	0	0	0	0	0	1	12680	899	31	1		1	PRRC1	5	126883688	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102500	126883688	54031572	6222	13934											
PRRC1	133619	broad.mit.edu	37	chr5	126887430	126887430	+	Missense_Mutation	SNP	T	T	G													aactccccaggactataatcTgaggtggtcaggccttttgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126887430T>G	ENST00000296666.8	+	9	1348	c.1160T>G	c.(1159-1161)cTg>cGg	p.L387R	PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000512635.2_Missense_Mutation_p.L387R	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	387						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GACTATAATCTGAGGTGGTCA	0.408													False	0	False	5:126887430	0	G	126887430	T	G	126887430	3	3	88	1	0	0	0	0	1	0	0	0	12680	1580	55	4	1190	4	PRRC1	5	126887430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3742	126887430	54027830	6223	13935	178	2									
PRRC1	133619	broad.mit.edu	37	chr5	126887437	126887437	+	Nonsense_Mutation	SNP	G	G	A													caggactataatctgaggtgGtcaggccttttggtgacagt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126887437G>A	ENST00000296666.8	+	9	1355	c.1167G>A	c.(1165-1167)tgG>tgA	p.W389*	PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000512635.2_Nonsense_Mutation_p.W389*	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	389						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		ATCTGAGGTGGTCAGGCCTTT	0.428													False	0	False	5:126887437	0	A	126887437	G	A	126887437	4	1	88	1	0	0	0	0	0	1	0	0	12680	1270	44	2	1197	2	PRRC1	5	126887437	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	126887437	54027823	6224	13936	178	2									
SLC12A2	6558	broad.mit.edu	37	chr5	127484510	127484510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaggttatgggaaaaataAtgaacctcttcgtggctaca	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127484510A>G	ENST00000262461.2	+	12	2135	c.1946A>G	c.(1945-1947)aAt>aGt	p.N649S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.N649S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	649					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGAAAAATAATGAACCTCTT	0.318													False	0	False	5:127484510	0	G	127484510	A	G	127484510	3	3	88	1	0	0	0	0	1	0	0	0	14464	101	4	4	1992	4	SLC12A2	5	127484510	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	597073	127484510	53430750	6225	13937											
SLC12A2	6558	broad.mit.edu	37	chr5	127497402	127497402	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccatcgatcaagccaaataTcagcgatggcttattaagaa	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127497402T>C	ENST00000262461.2	+	17	2715	c.2526T>C	c.(2524-2526)taT>taC	p.Y842Y	SLC12A2_ENST00000343225.4_Silent_p.Y842Y	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	842					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGCCAAATATCAGCGATGGC	0.353													False	0	False	5:127497402	0	C	127497402	T	C	127497402	2	2	88	1	0	0	0	0	0	0	0	1	14464	1442	50	4		4	SLC12A2	5	127497402	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12892	127497402	53417858	6226	13938											
FBN2	2201	broad.mit.edu	37	chr5	127622437	127622437	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttctccatcgggccttcGggccattccaggagggcaga	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127622437G>A	ENST00000508053.1	-	61	7959	c.6985C>T	c.(6985-6987)Cga>Tga	p.R2329*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.R2329*			P35556	FBN2_HUMAN	fibrillin 2	2329	EGF-like 39; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCGGGCCTTCGGGCCATTCCA	0.517													False	0	True	5:127622437	0	A	127622437	G	A	127622437	4	1	88	1	0	0	0	0	0	1	0	0	5743	1124	39	1	1797	1	FBN2	5	127622437	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125035	127622437	53292823	6227	13939											
FBN2	2201	broad.mit.edu	37	chr5	127671238	127671238	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgcactgggtgtcacaGcctccgttcattatcataca	8	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127671238G>T	ENST00000508053.1	-	35	4730	c.3756C>A	c.(3754-3756)ggC>ggA	p.G1252G	FBN2_ENST00000262464.4_Silent_p.G1252G|FBN2_ENST00000508989.1_Silent_p.G1219G|FBN2_ENST00000507835.1_Silent_p.G102G			P35556	FBN2_HUMAN	fibrillin 2	1252	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGTGTCACAGCCTCCGTTCA	0.438													False	0	False	5:127671238	0	T	127671238	G	T	127671238	2	4	88	1	0	0	0	0	0	0	0	1	5743	958	34	3		3	FBN2	5	127671238	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48801	127671238	53244022	6228	13940											
FBN2	2201	broad.mit.edu	37	chr5	127680140	127680140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacggcatttgaagcttcCgattgtatttctgcacttcc	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127680140C>T	ENST00000508053.1	-	31	4254	c.3280G>A	c.(3280-3282)Gga>Aga	p.G1094R	FBN2_ENST00000262464.4_Missense_Mutation_p.G1094R|FBN2_ENST00000508989.1_Missense_Mutation_p.G1061R			P35556	FBN2_HUMAN	fibrillin 2	1094	EGF-like 15; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTGAAGCTTCCGATTGTATTT	0.428													False	0	False	5:127680140	0	T	127680140	C	T	127680140	3	4	88	1	0	0	0	0	1	0	0	0	5743	661	23	1	5622	1	FBN2	5	127680140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8902	127680140	53235120	6229	13941											
FBN2	2201	broad.mit.edu	37	chr5	127705025	127705025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtactgcgcatgtgagTatctaaaggagatacaaaaa	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127705025T>C	ENST00000508053.1	-	22	3072	c.2098A>G	c.(2098-2100)Act>Gct	p.T700A	FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.T700A|FBN2_ENST00000508989.1_Missense_Mutation_p.T667A			P35556	FBN2_HUMAN	fibrillin 2	700					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGCATGTGAGTATCTAAAGGA	0.468													False	0	False	5:127705025	0	C	127705025	T	C	127705025	3	2	88	1	0	0	0	0	1	0	0	0	5743	1638	57	4	6840	4	FBN2	5	127705025	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24885	127705025	53210235	6230	13942											
FBN2	2201	broad.mit.edu	37	chr5	127872100	127872100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaagcactcacggacaAtgcactggtttcctccaggg	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127872100A>G	ENST00000508053.1	-	8	1306	c.332T>C	c.(331-333)aTt>aCt	p.I111T	FBN2_ENST00000262464.4_Missense_Mutation_p.I111T|FBN2_ENST00000508989.1_Missense_Mutation_p.I111T			P35556	FBN2_HUMAN	fibrillin 2	111	EGF-like 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTCACGGACAATGCACTGGTT	0.612													False	0	False	5:127872100	0	G	127872100	A	G	127872100	3	3	88	1	0	0	0	0	1	0	0	0	5743	101	4	4	8662	4	FBN2	5	127872100	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	167075	127872100	53043160	6231	13943											
SLC27A6	28965	broad.mit.edu	37	chr5	128302184	128302184	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgagcaatgagccggacttCgttcacgtgtggttcggcct	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:128302184C>T	ENST00000262462.4	+	1	1364	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_ENST00000506176.1_Silent_p.F118F|SLC27A6_ENST00000395266.1_Silent_p.F118F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	118					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCCGGACTTCGTTCACGTGT	0.567													False	0	False	5:128302184	0	T	128302184	C	T	128302184	2	4	88	1	0	0	0	0	0	0	0	1	14610	883	31	1		1	SLC27A6	5	128302184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	430084	128302184	52613076	6232	13944											
SLC27A6	28965	broad.mit.edu	37	chr5	128326153	128326153	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgctacctttgcaaacaatCtaaggtaggcgtaatcatta	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:128326153C>A	ENST00000262462.4	+	4	1975	c.965C>A	c.(964-966)tCt>tAt	p.S322Y	SLC27A6_ENST00000506176.1_Missense_Mutation_p.S322Y|SLC27A6_ENST00000395266.1_Missense_Mutation_p.S322Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	322					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGCAAACAATCTAAGGTAGGC	0.323													False	0	False	5:128326153	0	A	128326153	C	A	128326153	3	1	88	1	0	0	0	0	1	0	0	0	14610	913	32	3	979	3	SLC27A6	5	128326153	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23969	128326153	52589107	6233	13945											
ADAMTS19	171019	broad.mit.edu	37	chr5	129019923	129019923	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgagcccctcttcatgtgGacacacacaagctgggaaga	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129019923G>A	ENST00000274487.4	+	18	2902	c.2757G>A	c.(2755-2757)tgG>tgA	p.W919*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	919	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCTTCATGTGGACACACACAA	0.423													False	0	True	5:129019923	0	A	129019923	G	A	129019923	4	1	88	1	0	0	0	0	0	1	0	0	264	1183	41	2	2827	2	ADAMTS19	5	129019923	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	693770	129019923	51895337	6234	13946											
ADAMTS19	171019	broad.mit.edu	37	chr5	129030537	129030537	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaaagtgcaatgagcaaccAtgtcaaacaaggtaactcta	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129030537A>C	ENST00000274487.4	+	19	3070	c.2925A>C	c.(2923-2925)ccA>ccC	p.P975P	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	975	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGAGCAACCATGTCAAACAA	0.373													False	0	False	5:129030537	0	C	129030537	A	C	129030537	2	2	88	1	0	0	0	0	0	0	0	1	264	204	8	4		4	ADAMTS19	5	129030537	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10614	129030537	51884723	6235	13947											
CHSY3	337876	broad.mit.edu	37	chr5	129244046	129244046	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggactcagtgtgtctggtCttacgaggtaagcatggagc	15	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129244046C>A	ENST00000305031.4	+	2	1437	c.1079C>A	c.(1078-1080)tCt>tAt	p.S360Y	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	360						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGTGTCTGGTCTTACGAGGTA	0.428													False	0	False	5:129244046	0	A	129244046	C	A	129244046	3	1	88	1	0	0	0	0	1	0	0	0	3436	913	32	3	1085	3	CHSY3	5	129244046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	213509	129244046	51671214	6236	13948											
CHSY3	337876	broad.mit.edu	37	chr5	129521060	129521060	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattcagggacaacaggtgtActatcccatcatctttagcc	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129521060A>G	ENST00000305031.4	+	3	2583	c.2225A>G	c.(2224-2226)tAc>tGc	p.Y742C		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	742						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAACAGGTGTACTATCCCATC	0.398													False	0	False	5:129521060	0	G	129521060	A	G	129521060	3	3	88	1	0	0	0	0	1	0	0	0	3436	391	14	4	2235	4	CHSY3	5	129521060	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	277014	129521060	51394200	6237	13949											
CDC42SE2	56990	broad.mit.edu	37	chr5	130721245	130721245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatattttagaaaaggcgaCggcggattgacagaagtatg	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130721245C>T	ENST00000505065.1	+	4	585	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	CDC42SE2_ENST00000395246.1_Missense_Mutation_p.R22W|CDC42SE2_ENST00000503291.1_5'UTR|CDC42SE2_ENST00000360515.3_Missense_Mutation_p.R22W			Q9NRR3	C42S2_HUMAN	CDC42 small effector 2	22	Poly-Arg.				phagocytosis|regulation of cell shape|regulation of signal transduction	cell projection|cytoplasm|cytoskeleton|phagocytic cup	protein binding|structural molecule activity			breast(1)|large_intestine(1)|skin(1)	3		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAAAGGCGACGGCGGATTGA	0.373													False	0	False	5:130721245	0	T	130721245	C	T	130721245	3	4	88	1	0	0	0	0	1	0	0	0	3103	527	19	1	70	1	CDC42SE2	5	130721245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1200185	130721245	50194015	6238	13950											
CDC42SE2	56990	broad.mit.edu	37	chr5	130726743	130726743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatggaggtggaatgcctGccaatgtccagatgcagctc	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130726743G>A	ENST00000505065.1	+	5	735	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	CDC42SE2_ENST00000395246.1_Missense_Mutation_p.A72T|CDC42SE2_ENST00000503291.1_Missense_Mutation_p.A45T|CDC42SE2_ENST00000360515.3_Missense_Mutation_p.A72T			Q9NRR3	C42S2_HUMAN	CDC42 small effector 2	72					phagocytosis|regulation of cell shape|regulation of signal transduction	cell projection|cytoplasm|cytoskeleton|phagocytic cup	protein binding|structural molecule activity			breast(1)|large_intestine(1)|skin(1)	3		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGAATGCCTGCCAATGTCCA	0.498													False	0	True	5:130726743	0	A	130726743	G	A	130726743	3	1	88	1	0	0	0	0	1	0	0	0	3103	1319	46	2	224	2	CDC42SE2	5	130726743	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5498	130726743	50188517	6239	13951											
RAPGEF6	51735	broad.mit.edu	37	chr5	130766994	130766994	+	Silent	SNP	C	C	T													atctcttcattgctcacagaCgatgagacagctaaacactt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130766994C>T	ENST00000509018.1	-	26	4228	c.4023G>A	c.(4021-4023)tcG>tcA	p.S1341S	RAPGEF6_ENST00000507093.1_Silent_p.S1349S|RAPGEF6_ENST00000307984.5_Silent_p.S1354S|CTC-432M15.3_ENST00000514667.1_Silent_p.S1391S|RAPGEF6_ENST00000296859.6_Silent_p.S1349S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1341	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGCTCACAGACGATGAGACAG	0.423													False	0	False	5:130766994	0	T	130766994	C	T	130766994	2	4	88	1	0	0	0	0	0	0	0	1	13127	523	19	1		1	RAPGEF6	5	130766994	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40251	130766994	50148266	6240	13952	179	2									
RAPGEF6	51735	broad.mit.edu	37	chr5	130767004	130767004	+	Missense_Mutation	SNP	G	G	A													tgctcacagacgatgagacaGctaaacacttgattagagat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130767004G>A	ENST00000509018.1	-	26	4218	c.4013C>T	c.(4012-4014)gCt>gTt	p.A1338V	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1346V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1351V|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.A1388V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1346V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1338	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CGATGAGACAGCTAAACACTT	0.418													False	0	False	5:130767004	0	A	130767004	G	A	130767004	3	1	88	1	0	0	0	0	1	0	0	0	13127	971	34	2	804	2	RAPGEF6	5	130767004	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	130767004	50148256	6241	13953	179	2									
RAPGEF6	51735	broad.mit.edu	37	chr5	130788766	130788766	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctgtcgaaacatcatagCtgggtccatgttagcagaag	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130788766C>A	ENST00000509018.1	-	21	3386	c.3181G>T	c.(3181-3183)Gct>Tct	p.A1061S	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.A1061S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.A776S|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A1066S|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.A1111S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A1061S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1061	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AACATCATAGCTGGGTCCATG	0.343													False	0	False	5:130788766	0	A	130788766	C	A	130788766	3	1	88	1	0	0	0	0	1	0	0	0	13127	797	28	3	2119	3	RAPGEF6	5	130788766	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21762	130788766	50126494	6242	13954											
RAPGEF6	51735	broad.mit.edu	37	chr5	130840413	130840413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcctcaactttatggGtatttttttccacatggttt	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130840413G>A	ENST00000509018.1	-	11	1365	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T387I|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T387I|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T102I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T387I|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T437I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T387I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	387					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AACTTTATGGGTATTTTTTTC	0.418													False	0	True	5:130840413	0	A	130840413	G	A	130840413	3	1	88	1	0	0	0	0	1	0	0	0	13127	1261	44	2	4203	2	RAPGEF6	5	130840413	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51647	130840413	50074847	6243	13955											
RAPGEF6	51735	broad.mit.edu	37	chr5	130928115	130928115	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggagcctttcacaagcacaGatccagaaagtaggatatac	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130928115G>A	ENST00000509018.1	-	4	447	c.242C>T	c.(241-243)tCt>tTt	p.S81F	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S81F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S81F|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S131F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S81F|RAPGEF6_ENST00000503398.2_5'UTR	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	81					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CACAAGCACAGATCCAGAAAG	0.353													False	0	False	5:130928115	0	A	130928115	G	A	130928115	3	1	88	1	0	0	0	0	1	0	0	0	13127	942	33	2	5149	2	RAPGEF6	5	130928115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87702	130928115	49987145	6244	13956											
FNIP1	96459	broad.mit.edu	37	chr5	131066680	131066680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaactgtctcctccaggttTcagttggcagcatttcccaa	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131066680T>C	ENST00000307968.7	-	3	270	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	FNIP1_ENST00000510461.1_Missense_Mutation_p.K91E|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.K91E|FNIP1_ENST00000307954.8_Intron	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CCTCCAGGTTTCAGTTGGCAG	0.373													False	0	True	5:131066680	0	C	131066680	T	C	131066680	3	2	88	1	0	0	0	0	1	0	0	0	6015	1792	62	4	3293	4	FNIP1	5	131066680	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	138565	131066680	49848580	6245	13957											
ACSL6	23305	broad.mit.edu	37	chr5	131305833	131305833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcctacctgaggtccagtCgccaggagtggtgaaggtac	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131305833C>T	ENST00000379264.2	-	15	1603	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	ACSL6_ENST00000379255.1_Missense_Mutation_p.D399N|ACSL6_ENST00000379240.1_Missense_Mutation_p.D474N|ACSL6_ENST00000379249.3_Missense_Mutation_p.D474N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D454N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D489N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D399N|ACSL6_ENST00000544770.1_Missense_Mutation_p.D383N|ACSL6_ENST00000296869.4_Missense_Mutation_p.D499N|ACSL6_ENST00000379246.1_Missense_Mutation_p.D485N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D474N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D474N	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	474					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.D499Y(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGTCCAGTCGCCAGGAGTG	0.498													False	0	False	5:131305833	0	T	131305833	C	T	131305833	3	4	88	1	0	0	0	0	1	0	0	0	181	884	31	1	701	1	ACSL6	5	131305833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239153	131305833	49609427	6246	13958											
ACSL6	23305	broad.mit.edu	37	chr5	131329877	131329877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgtcccaagtcacctagCtcaggcagtcgcagtatcct	8	14	2	0	rs17854460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131329877C>T	ENST00000379264.2	-	2	225	c.117G>A	c.(115-117)gaG>gaA	p.E39E	ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379255.1_Silent_p.E14E|ACSL6_ENST00000379240.1_Silent_p.E14E|ACSL6_ENST00000379249.3_Silent_p.E14E|ACSL6_ENST00000431707.1_Silent_p.E14E|ACSL6_ENST00000379272.2_Silent_p.E14E|ACSL6_ENST00000357096.1_Silent_p.E14E|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000296869.4_Silent_p.E39E|ACSL6_ENST00000379246.1_Silent_p.E25E|ACSL6_ENST00000379244.1_Silent_p.E14E|ACSL6_ENST00000543479.1_Silent_p.E14E	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	14					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCACCTAGCTCAGGCAGTC	0.542													False	0	False	5:131329877	0	T	131329877	C	T	131329877	2	4	88	1	0	0	0	0	0	0	0	1	181	796	28	2		2	ACSL6	5	131329877	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24044	131329877	49585383	6247	13959											
P4HA2	8974	broad.mit.edu	37	chr5	131546055	131546055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacagcatagctgaggtagtCcagcacctgtgacttggttg	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131546055C>T	ENST00000401867.1	-	7	1199	c.631G>A	c.(631-633)Gac>Aac	p.D211N	P4HA2_ENST00000379104.2_Missense_Mutation_p.D211N|P4HA2_ENST00000166534.4_Missense_Mutation_p.D211N|P4HA2_ENST00000379100.2_Missense_Mutation_p.D211N|P4HA2_ENST00000360568.3_Missense_Mutation_p.D211N|P4HA2_ENST00000379086.1_Missense_Mutation_p.D211N			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	211						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTGAGGTAGTCCAGCACCTGT	0.567													False	0	False	5:131546055	0	T	131546055	C	T	131546055	3	4	88	1	0	0	0	0	1	0	0	0	11425	855	30	2	1080	2	P4HA2	5	131546055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216178	131546055	49369205	6248	13960											
SLC22A4	6583	broad.mit.edu	37	chr5	131667484	131667484	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcagaaagctttcatTctggacctgttcaggactcg	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131667484T>G	ENST00000200652.3	+	6	1161	c.987T>G	c.(985-987)atT>atG	p.I329M	AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	329					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	AAGCTTTCATTCTGGACCTGT	0.398													False	0	False	5:131667484	0	G	131667484	T	G	131667484	3	3	88	1	0	0	0	0	1	0	0	0	14536	1771	62	4	1009	4	SLC22A4	5	131667484	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	121429	131667484	49247776	6249	13961											
SLC22A5	6584	broad.mit.edu	37	chr5	131726498	131726498	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcccagcatatgtgttggCctggctgctgctgcaatatt	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131726498C>A	ENST00000245407.3	+	7	1390	c.1169C>A	c.(1168-1170)gCc>gAc	p.A390D	SLC22A5_ENST00000435065.2_Missense_Mutation_p.A414D|SLC22A5_ENST00000479605.1_3'UTR	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	390					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TATGTGTTGGCCTGGCTGCTG	0.537													False	0	False	5:131726498	0	A	131726498	C	A	131726498	3	1	88	1	0	0	0	0	1	0	0	0	14537	739	26	3	1195	3	SLC22A5	5	131726498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59014	131726498	49188762	6250	13962											
IRF1	3659	broad.mit.edu	37	chr5	131820175	131820175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtttgttggctgccactcCgactgctccaagagctgggg	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131820175C>T	ENST00000245414.4	-	9	990	c.732G>A	c.(730-732)tcG>tcA	p.S244S	IRF1_ENST00000405885.2_Silent_p.S244S	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	244					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCTGCCACTCCGACTGCTCCA	0.567													False	0	False	5:131820175	0	T	131820175	C	T	131820175	2	4	88	1	0	0	0	0	0	0	0	1	7877	639	23	1		1	IRF1	5	131820175	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93677	131820175	49095085	6251	13963											
IRF1	3659	broad.mit.edu	37	chr5	131821409	131821409	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcctcatctgttgtagCtgtggatggggaaagcagag	13	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131821409C>T	ENST00000245414.4	-	8	926		c.e8-1		IRF1_ENST00000405885.2_Splice_Site	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1						blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TCTGTTGTAGCTGTGGATGGG	0.537													False	0	False	5:131821409	0	T	131821409	C	T	131821409	5	4	88	1	0	0	0	0	0	0	1	0	7877	811	28	2	322	2	IRF1	5	131821409	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1234	131821409	49093851	6252	13964											
RAD50	10111	broad.mit.edu	37	chr5	131945022	131945022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagctcaactaagtgaatgCgagaaacacaaagaaaagat	8	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131945022C>T	ENST00000378823.3	+	19	3371	c.2553C>T	c.(2551-2553)tgC>tgT	p.C851C	RAD50_ENST00000265335.6_Silent_p.C990C	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	990					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAAGTGAATGCGAGAAACACA	0.289								Homologous recombination					False	0	False	5:131945022	0	T	131945022	C	T	131945022	2	4	88	1	0	0	0	0	0	0	0	1	13063	776	27	1		1	RAD50	5	131945022	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123613	131945022	48970238	6253	13965											
SEPT8	23176	broad.mit.edu	37	chr5	132097246	132097246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggctgtgggtctgctcgCggaggtcttccatgttcacc	14	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132097246C>T	ENST00000296873.7	-	7	1149	c.866G>A	c.(865-867)cGc>cAc	p.R289H	SEPT8_ENST00000378706.1_Missense_Mutation_p.R289H|SEPT8_ENST00000448933.1_Missense_Mutation_p.R229H|SEPT8_ENST00000378721.4_Missense_Mutation_p.R287H|SEPT8_ENST00000458488.2_Missense_Mutation_p.R289H|SEPT8_ENST00000378699.2_Missense_Mutation_p.R229H|SEPT8_ENST00000378701.1_Missense_Mutation_p.R287H|SEPT8_ENST00000378719.2_Missense_Mutation_p.R289H	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	289					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTCTGCTCGCGGAGGTCTTC	0.587													False	0	False	5:132097246	0	T	132097246	C	T	132097246	3	4	88	1	0	0	0	0	1	0	0	0	14151	768	27	1	656	1	SEPT8	5	132097246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152224	132097246	48818014	6254	13966											
SHROOM1	134549	broad.mit.edu	37	chr5	132160428	132160428	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcaggcacaatgcaggtctCtgagaccctctgttcactgt	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160428C>A	ENST00000378679.3	-	6	1924	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	SHROOM1_ENST00000378676.1_Intron|SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.E374*	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	374					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCAGGTCTCTGAGACCCTC	0.582													False	0	False	5:132160428	0	A	132160428	C	A	132160428	4	1	88	1	0	0	0	0	0	1	0	0	14374	922	32	3	1458	3	SHROOM1	5	132160428	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63182	132160428	48754832	6255	13967											
SHROOM1	134549	broad.mit.edu	37	chr5	132160764	132160764	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctgctccttggggaacaGcctggaagggtgaacagtcg	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160764G>A	ENST00000378679.3	-	5	1784	c.980C>T	c.(979-981)gCt>gTt	p.A327V	SHROOM1_ENST00000378676.1_Splice_Site_p.A327V|SHROOM1_ENST00000319854.3_Splice_Site_p.A327V	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	327					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGGGAACAGCCTGGAAGGG	0.532													False	0	False	5:132160764	0	A	132160764	G	A	132160764	5	1	88	1	0	0	0	0	0	0	1	0	14374	985	34	2	1602	2	SHROOM1	5	132160764	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	336	132160764	48754496	6256	13968											
SHROOM1	134549	broad.mit.edu	37	chr5	132160909	132160909	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaacccaagacttcgccTgaagcgctccgactccgact	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160909T>C	ENST00000378679.3	-	4	1728	c.924A>G	c.(922-924)tcA>tcG	p.S308S	SHROOM1_ENST00000378676.1_Silent_p.S308S|SHROOM1_ENST00000319854.3_Silent_p.S308S	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	308					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGACTTCGCCTGAAGCGCTCC	0.617													False	0	False	5:132160909	0	C	132160909	T	C	132160909	2	2	88	1	0	0	0	0	0	0	0	1	14374	1567	55	4		4	SHROOM1	5	132160909	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	145	132160909	48754351	6257	13969											
GDF9	2661	broad.mit.edu	37	chr5	132197621	132197621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaaattgtctgaagTattcactcagattgaaggaa	10	4	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132197621T>C	ENST00000378673.2	-	3	1891	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	GDF9_ENST00000296875.2_Missense_Mutation_p.Y342C			O60383	GDF9_HUMAN	growth differentiation factor 9	342					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTCTGAAGTATTCACTCAG	0.483													False	0	False	5:132197621	0	C	132197621	T	C	132197621	3	2	88	1	0	0	0	0	1	0	0	0	6364	1638	57	4	343	4	GDF9	5	132197621	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	36712	132197621	48717639	6258	13970											
ZCCHC10	54819	broad.mit.edu	37	chr5	132334384	132334384	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaatcagaggaggaggaaGaggttgtggaggaggctgag	20	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132334384G>T	ENST00000324170.3	-	4	470	c.404C>A	c.(403-405)tCt>tAt	p.S135Y	ZCCHC10_ENST00000509437.1_Missense_Mutation_p.S157Y|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.S151Y|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.S121Y	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	157	Ser-rich.						nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ggaggaggaagaggttgtgga	0.488													False	0	False	5:132334384	0	T	132334384	G	T	132334384	3	4	88	1	0	0	0	0	1	0	0	0	17662	942	33	3	112	3	ZCCHC10	5	132334384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136763	132334384	48580876	6259	13971											
VDAC1	7416	broad.mit.edu	37	chr5	133326749	133326749	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtattccatttctctgTaaacgtcaggccgtactcag	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133326749T>C	ENST00000265333.3	-	4	458	c.214A>G	c.(214-216)Aca>Gca	p.T72A	VDAC1_ENST00000395044.3_Missense_Mutation_p.T72A|VDAC1_ENST00000395047.2_Missense_Mutation_p.T72A|VDAC1_ENST00000466080.1_5'UTR	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	72					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CATTTCTCTGTAAACGTCAGG	0.458													False	0	True	5:133326749	0	C	133326749	T	C	133326749	3	2	88	1	0	0	0	0	1	0	0	0	17230	1638	57	4	661	4	VDAC1	5	133326749	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	992365	133326749	47588511	6260	13972											
TCF7	6932	broad.mit.edu	37	chr5	133473798	133473798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccccaactctctctctacGaacatttcaacagcccacat	2	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133473798G>A	ENST00000395029.1	+	4	685	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	TCF7_ENST00000395023.1_Missense_Mutation_p.E49K|TCF7_ENST00000378564.1_Missense_Mutation_p.E164K|TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000321584.4_Missense_Mutation_p.E164K|TCF7_ENST00000378560.4_Missense_Mutation_p.E49K|TCF7_ENST00000518915.1_Missense_Mutation_p.E49K|TCF7_ENST00000432532.2_Missense_Mutation_p.E49K|TCF7_ENST00000342854.5_Missense_Mutation_p.E164K|TCF7_ENST00000321603.6_Missense_Mutation_p.E164K|TCF7_ENST00000520958.1_Missense_Mutation_p.E49K			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	164					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	p.E164K(2)		kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTCTCTACGAACATTTCAA	0.592													False	0	False	5:133473798	0	A	133473798	G	A	133473798	3	1	88	1	0	0	0	0	1	0	0	0	15778	1059	37	1	504	1	TCF7	5	133473798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	147049	133473798	47441462	6261	13973											
SKP1	6500	broad.mit.edu	37	chr5	133496781	133496781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctcatcatcttcaggaGgaggagggtcatccttgtgg	13	8	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133496781G>A	ENST00000353411.6	-	4	395	c.212C>T	c.(211-213)cCt>cTt	p.P71L	SKP1_ENST00000521216.1_Missense_Mutation_p.P71L|SKP1_ENST00000522855.1_Missense_Mutation_p.P71L|SKP1_ENST00000522552.1_Missense_Mutation_p.P71L|SKP1_ENST00000517625.1_Missense_Mutation_p.P71L	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	71					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTTCAGGAGGAGGAGGGTC	0.443													False	0	True	5:133496781	0	A	133496781	G	A	133496781	3	1	88	1	0	0	0	0	1	0	0	0	14442	1000	35	2	318	2	SKP1	5	133496781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22983	133496781	47418479	6262	13974											
CDKL3	51265	broad.mit.edu	37	chr5	133644398	133644398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttcctgcagtaatttaGctttcagttctggcatgaat	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133644398G>A	ENST00000521118.1	-	8	1016	c.902C>T	c.(901-903)gCt>gTt	p.A301V	CDKL3_ENST00000523054.1_Missense_Mutation_p.A112V|CDKL3_ENST00000435240.2_Missense_Mutation_p.A6V|CDKL3_ENST00000609383.1_Missense_Mutation_p.A6V|CDKL3_ENST00000265334.4_Missense_Mutation_p.A301V|CDKL3_ENST00000609654.1_Missense_Mutation_p.A112V|CDKL3_ENST00000536186.1_Missense_Mutation_p.A6V|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000523832.1_Missense_Mutation_p.A301V|CDKL3_ENST00000435211.1_Missense_Mutation_p.A301V|CDKL3_ENST00000521755.1_Intron			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	301						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGTAATTTAGCTTTCAGTTC	0.308													False	0	False	5:133644398	0	A	133644398	G	A	133644398	3	1	88	1	0	0	0	0	1	0	0	0	3178	971	34	2	904	2	CDKL3	5	133644398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	147617	133644398	47270862	6263	13975											
PHF15	0	broad.mit.edu	37	chr5	133896555	133896555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctgggcatcgagtacgacGaggatgttgtctgcgacgtg	17	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133896555G>A	ENST00000395003.1	+	6	771	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PHF15_ENST00000282605.4_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K|PHF15_ENST00000402835.1_Missense_Mutation_p.E198K	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		198					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAGTACGACGAGGATGTTGT	0.592													False	0	False	5:133896555	0	A	133896555	G	A	133896555	3	1	88	1	0	0	0	0	1	0	0	0	11895	1059	37	1	610	1	PHF15	5	133896555	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	252157	133896555	47018705	6264	13976											
SAR1B	51128	broad.mit.edu	37	chr5	133944084	133944084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgttgtctgaccatatAaaccaaacatctctcgcaac	4	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133944084A>G	ENST00000402673.2	-	6	736	c.458T>C	c.(457-459)tTa>tCa	p.L153S	SAR1B_ENST00000439578.1_Missense_Mutation_p.L153S|SAR1B_ENST00000509937.1_Missense_Mutation_p.L85S|SAR1B_ENST00000507419.1_Missense_Mutation_p.L85S|SAR1B_ENST00000502539.1_Missense_Mutation_p.L85S	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	SAR1 homolog B (S. cerevisiae)	153					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGACCATATAAACCAAACAT	0.353													False	0	True	5:133944084	0	G	133944084	A	G	133944084	3	3	88	1	0	0	0	0	1	0	0	0	13920	372	13	4	146	4	SAR1B	5	133944084	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47529	133944084	46971176	6265	13977											
SAR1B	51128	broad.mit.edu	37	chr5	133948441	133948441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccagcaatggtcagttcttCggaagctaaataagatttta	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133948441C>T	ENST00000402673.2	-	4	462	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	SAR1B_ENST00000439578.1_Missense_Mutation_p.E62K|SAR1B_ENST00000509937.1_5'UTR|SAR1B_ENST00000507419.1_5'UTR|SAR1B_ENST00000502539.1_5'UTR	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	SAR1 homolog B (S. cerevisiae)	62					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCAGTTCTTCGGAAGCTAAA	0.289													False	0	False	5:133948441	0	T	133948441	C	T	133948441	3	4	88	1	0	0	0	0	1	0	0	0	13920	893	31	1	428	1	SAR1B	5	133948441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4357	133948441	46966819	6266	13978											
SEC24A	10802	broad.mit.edu	37	chr5	133997159	133997159	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catccacagcctcacaaacaAaccattgtcctcgtgcatca	4	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133997159A>T	ENST00000398844.2	+	2	736	c.448A>T	c.(448-450)Aac>Tac	p.N150Y	SEC24A_ENST00000322887.4_Missense_Mutation_p.N150Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	150	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCACAAACAAACCATTGTCC	0.408													False	0	True	5:133997159	0	T	133997159	A	T	133997159	3	4	88	1	0	0	0	0	1	0	0	0	14075	14	1	5	454	5	SEC24A	5	133997159	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48718	133997159	46918101	6267	13979											
SEC24A	10802	broad.mit.edu	37	chr5	134032917	134032917	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccttctcagtggacagtaTtctgatttggcttctctggg	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134032917T>G	ENST00000398844.2	+	14	2376	c.2088T>G	c.(2086-2088)taT>taG	p.Y696*		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	696					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGGACAGTATTCTGATTTGG	0.348													False	0	False	5:134032917	0	G	134032917	T	G	134032917	4	3	88	1	0	0	0	0	0	1	0	0	14075	1500	52	4	2142	4	SEC24A	5	134032917	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35758	134032917	46882343	6268	13980											
SEC24A	10802	broad.mit.edu	37	chr5	134039521	134039521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtctttgcctaacgtcaAcccagacgctgggtatgcag	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134039521A>G	ENST00000398844.2	+	16	2627	c.2339A>G	c.(2338-2340)aAc>aGc	p.N780S		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	780					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTAACGTCAACCCAGACGCT	0.408													False	0	True	5:134039521	0	G	134039521	A	G	134039521	3	3	88	1	0	0	0	0	1	0	0	0	14075	43	2	4	2401	4	SEC24A	5	134039521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6604	134039521	46875739	6269	13981											
DDX46	9879	broad.mit.edu	37	chr5	134154554	134154554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccttttcttttagactgCtaggtggaaagttacctcta	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134154554C>T	ENST00000452510.2	+	21	2995	c.2837C>T	c.(2836-2838)gCt>gTt	p.A946V	DDX46_ENST00000354283.4_Missense_Mutation_p.A945V	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	945					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTTAGACTGCTAGGTGGAAA	0.403													False	0	False	5:134154554	0	T	134154554	C	T	134154554	3	4	88	1	0	0	0	0	1	0	0	0	4389	797	28	2	2916	2	DDX46	5	134154554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115033	134154554	46760706	6270	13982											
DDX46	9879	broad.mit.edu	37	chr5	134154631	134154631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaattacaatcagaggaAcctacttccctcctggcaaa	6	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134154631A>G	ENST00000452510.2	+	21	3072	c.2914A>G	c.(2914-2916)Acc>Gcc	p.T972A	DDX46_ENST00000354283.4_Missense_Mutation_p.T971A	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	971					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATCAGAGGAACCTACTTCCC	0.418													False	0	False	5:134154631	0	G	134154631	A	G	134154631	3	3	88	1	0	0	0	0	1	0	0	0	4389	43	2	4	2993	4	DDX46	5	134154631	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	77	134154631	46760629	6271	13983											
CATSPER3	347732	broad.mit.edu	37	chr5	134344598	134344598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctttgagccgggcattcaCcatcatcttcatcttgctcg	8	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134344598C>T	ENST00000282611.6	+	5	829	c.743C>T	c.(742-744)aCc>aTc	p.T248I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	248					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGGCATTCACCATCATCTTC	0.537													False	0	False	5:134344598	0	T	134344598	C	T	134344598	3	4	88	1	0	0	0	0	1	0	0	0	2709	507	18	2	761	2	CATSPER3	5	134344598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	189967	134344598	46570662	6272	13984											
H2AFY	9555	broad.mit.edu	37	chr5	134686592	134686592	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgaggcaatgtcagcctgTacaacttgcaactataacag	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134686592T>C	ENST00000312469.4	-	6	782	c.600A>G	c.(598-600)gtA>gtG	p.V200V	H2AFY_ENST00000423969.2_Intron|CTC-349C3.1_ENST00000554670.1_3'UTR|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000304332.4_Intron|H2AFY_ENST00000512507.1_Intron|H2AFY_ENST00000511689.1_Intron	NM_138609.2	NP_613075.1	O75367	H2AY_HUMAN	H2A histone family, member Y	200	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTCAGCCTGTACAACTTGCA	0.502													False	0	False	5:134686592	0	C	134686592	T	C	134686592	2	2	88	1	0	0	0	0	0	0	0	1	6976	1625	57	4		4	H2AFY	5	134686592	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	341994	134686592	46228668	6273	13985											
H2AFY	9555	broad.mit.edu	37	chr5	134696257	134696257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtgtgccctcggttgtgCtgtcggcgctggctgcctta	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134696257C>A	ENST00000511689.1	-	5	1111	c.518G>T	c.(517-519)aGc>aTc	p.S173I	H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Missense_Mutation_p.S173I|H2AFY_ENST00000304332.4_Missense_Mutation_p.S172I|H2AFY_ENST00000312469.4_Missense_Mutation_p.S173I|H2AFY_ENST00000512507.1_5'UTR	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	173					chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCGGTTGTGCTGTCGGCGCT	0.587													False	0	False	5:134696257	0	A	134696257	C	A	134696257	3	1	88	1	0	0	0	0	1	0	0	0	6976	797	28	3	715	3	H2AFY	5	134696257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9665	134696257	46219003	6274	13986											
NEUROG1	4762	broad.mit.edu	37	chr5	134871080	134871080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtgcatgcggttgcgctCgcgatcgttggccttgacgc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134871080C>T	ENST00000314744.4	-	1	559	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	101					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGTTGCGCTCGCGATCGTTG	0.706													False	0	False	5:134871080	0	T	134871080	C	T	134871080	3	4	88	1	0	0	0	0	1	0	0	0	10420	893	31	1	416	1	NEUROG1	5	134871080	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174823	134871080	46044180	6275	13987											
IL9	3578	broad.mit.edu	37	chr5	135231466	135231466	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctggcctgccacggagcAcaggagcagggcagaggtaa	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135231466A>G	ENST00000274520.1	-	1	50	c.40T>C	c.(40-42)Tgc>Cgc	p.C14R		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	14					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCACGGAGCACAGGAGCAGG	0.577													False	0	False	5:135231466	0	G	135231466	A	G	135231466	3	3	88	1	0	0	0	0	1	0	0	0	7757	159	6	4	414	4	IL9	5	135231466	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	360386	135231466	45683794	6276	13988											
LECT2	3950	broad.mit.edu	37	chr5	135287026	135287026	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtagatccagcagagcacaAgatgtccacaccctggtgag	11	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135287026A>G	ENST00000274507.1	-	3	375	c.175T>C	c.(175-177)Ttg>Ctg	p.L59L	LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000514447.2_Silent_p.L59L|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000522943.1_Silent_p.L59L	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	59					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGAGCACAAGATGTCCACA	0.473													False	0	False	5:135287026	0	G	135287026	A	G	135287026	2	3	88	1	0	0	0	0	0	0	0	1	8764	69	3	4		4	LECT2	5	135287026	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55560	135287026	45628234	6277	13989											
TGFBI	7045	broad.mit.edu	37	chr5	135383056	135383056	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaggtcatctccaccatcAccaacaacatccagcagatc	4	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135383056A>G	ENST00000442011.2	+	6	879	c.718A>G	c.(718-720)Acc>Gcc	p.T240A	TGFBI_ENST00000305126.8_Missense_Mutation_p.T240A	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	240	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCACCATCACCAACAACAT	0.562													False	0	False	5:135383056	0	G	135383056	A	G	135383056	3	3	88	1	0	0	0	0	1	0	0	0	15902	159	6	4	740	4	TGFBI	5	135383056	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	96030	135383056	45532204	6278	13990											
TRPC7	57113	broad.mit.edu	37	chr5	135583384	135583384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatcgcgtagagcccttccGatatgatctgagggtctgaa	11	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135583384G>A	ENST00000513104.1	-	7	1901	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L	TRPC7_ENST00000355180.3_Missense_Mutation_p.S479L|TRPC7_ENST00000426057.2_Missense_Mutation_p.S424L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	540					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGCCCTTCCGATATGATCTG	0.522													False	0	False	5:135583384	0	A	135583384	G	A	135583384	3	1	88	1	0	0	0	0	1	0	0	0	16667	1059	37	1	993	1	TRPC7	5	135583384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200328	135583384	45331876	6279	13991											
TRPC7	57113	broad.mit.edu	37	chr5	135692925	135692925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggatgttgccatactcagCcgagtccaggaagcgctcct	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135692925C>T	ENST00000513104.1	-	2	433	c.151G>A	c.(151-153)Gct>Act	p.A51T	TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T|TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	51					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCATACTCAGCCGAGTCCAGG	0.607													False	0	False	5:135692925	0	T	135692925	C	T	135692925	3	4	88	1	0	0	0	0	1	0	0	0	16667	739	26	2	2481	2	TRPC7	5	135692925	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109541	135692925	45222335	6280	13992											
SPOCK1	6695	broad.mit.edu	37	chr5	136314408	136314408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcatcctctgtcacggCtcgggtgtgcaccctcagct	9	16	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:136314408C>T	ENST00000394945.1	-	11	1424	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	SPOCK1_ENST00000282223.7_Missense_Mutation_p.A419T	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	419					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTGTCACGGCTCGGGTGTGC	0.522													False	0	False	5:136314408	0	T	136314408	C	T	136314408	3	4	88	1	0	0	0	0	1	0	0	0	15161	797	28	2	68	2	SPOCK1	5	136314408	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	621483	136314408	44600852	6281	13993											
HNRNPA0	10949	broad.mit.edu	37	chr5	137089345	137089345	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acgaagccgaatccacgcttCttgccggactgcttgtcggc	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137089345C>A	ENST00000314940.4	-	1	694	c.411G>T	c.(409-411)aaG>aaT	p.K137N		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	137	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCCACGCTTCTTGCCGGACT	0.577													False	0	False	5:137089345	0	A	137089345	C	A	137089345	3	1	88	1	0	0	0	0	1	0	0	0	7303	912	32	3	510	3	HNRNPA0	5	137089345	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	774937	137089345	43825915	6282	13994											
HNRNPA0	10949	broad.mit.edu	37	chr5	137089524	137089524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacaccgcccgcttcagctCcacagtgttgccgtccacgg	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137089524C>T	ENST00000314940.4	-	1	515	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	78	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCTTCAGCTCCACAGTGTTG	0.652													False	0	False	5:137089524	0	T	137089524	C	T	137089524	3	4	88	1	0	0	0	0	1	0	0	0	7303	864	30	2	689	2	HNRNPA0	5	137089524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	137089524	43825736	6283	13995											
MYOT	9499	broad.mit.edu	37	chr5	137219167	137219167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgatagtgtctgagaaggGtcttcattcactcatctttg	9	7	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137219167G>A	ENST00000239926.4	+	7	1285	c.911G>A	c.(910-912)gGt>gAt	p.G304D	MYOT_ENST00000515645.1_Missense_Mutation_p.G189D|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000421631.2_Missense_Mutation_p.G120D|RP11-381K20.2_ENST00000508281.2_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	304	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTGAGAAGGGTCTTCATTCA	0.448													False	0	True	5:137219167	0	A	137219167	G	A	137219167	3	1	88	1	0	0	0	0	1	0	0	0	10161	1261	44	2	933	2	MYOT	5	137219167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129643	137219167	43696093	6284	13996											
PKD2L2	27039	broad.mit.edu	37	chr5	137243502	137243502	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcttacttggacagctgttGaaaagtactgaaaaatattc	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137243502G>A	ENST00000508638.1	+	7	1102	c.1047G>A	c.(1045-1047)ttG>ttA	p.L349L	PKD2L2_ENST00000350250.4_Silent_p.L315L|PKD2L2_ENST00000290431.5_Silent_p.L349L|PKD2L2_ENST00000508883.1_Silent_p.L349L|PKD2L2_ENST00000502810.1_Silent_p.L327L	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	349						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GACAGCTGTTGAAAAGTACTG	0.299													False	0	True	5:137243502	0	A	137243502	G	A	137243502	2	1	88	1	0	0	0	0	0	0	0	1	12037	1281	45	2		2	PKD2L2	5	137243502	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24335	137243502	43671758	6285	13997											
PKD2L2	27039	broad.mit.edu	37	chr5	137261573	137261573	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctcaatagcaaaggcagCggagatttggctgaacaagc	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137261573C>T	ENST00000508638.1	+	10	1378	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	PKD2L2_ENST00000350250.4_Silent_p.S508S|PKD2L2_ENST00000290431.5_Silent_p.S542S|PKD2L2_ENST00000508883.1_Silent_p.S542S|PKD2L2_ENST00000502810.1_Silent_p.S520S	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	542						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAAAGGCAGCGGAGATTTGG	0.348													False	0	False	5:137261573	0	T	137261573	C	T	137261573	2	4	88	1	0	0	0	0	0	0	0	1	12037	767	27	1		1	PKD2L2	5	137261573	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18071	137261573	43653687	6286	13998											
FAM13B	0	broad.mit.edu	37	chr5	137289150	137289150	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaactaaaggatgatcttcGaattctgaattaaaacaaaa	6	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137289150G>A	ENST00000033079.3	-	15	2108	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	FAM13B_ENST00000425075.2_Nonsense_Mutation_p.R457*|FAM13B_ENST00000420893.2_Nonsense_Mutation_p.R553*	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	553					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						GATGATCTTCGAATTCTGAAT	0.353													False	0	False	5:137289150	0	A	137289150	G	A	137289150	4	1	88	1	0	0	0	0	0	1	0	0	5489	1066	37	1	1126	1	FAM13B	5	137289150	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27577	137289150	43626110	6287	13999											
FAM13B	0	broad.mit.edu	37	chr5	137354186	137354186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccattgacttgaaaaagtcCttgttgctccagacctccta	6	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137354186C>T	ENST00000033079.3	-	4	626	c.175G>A	c.(175-177)Gga>Aga	p.G59R	FAM13B_ENST00000425075.2_5'UTR|FAM13B_ENST00000420893.2_Missense_Mutation_p.G59R	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	59	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TGAAAAAGTCCTTGTTGCTCC	0.423													False	0	False	5:137354186	0	T	137354186	C	T	137354186	3	4	88	1	0	0	0	0	1	0	0	0	5489	690	24	2	2722	2	FAM13B	5	137354186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65036	137354186	43561074	6288	14000											
WNT8A	7478	broad.mit.edu	37	chr5	137424615	137424615	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattctgtccttgtatataGgaggccatggctggatctgg	12	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137424615G>A	ENST00000506684.1	+	4	657		c.e4-1		WNT8A_ENST00000398754.1_Splice_Site			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A						brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTTGTATATAGGAGGCCATGG	0.527													False	0	True	5:137424615	0	A	137424615	G	A	137424615	5	1	88	1	0	0	0	0	0	0	1	0	17480	1014	35	2	385	2	WNT8A	5	137424615	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70429	137424615	43490645	6289	14001											
WNT8A	7478	broad.mit.edu	37	chr5	137424756	137424756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacaacagggccggcagaCtggtgggtataggcattgtg	15	8	0	1	rs62383479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137424756C>A	ENST00000506684.1	+	4	798	c.562C>A	c.(562-564)Ctg>Atg	p.L188M	WNT8A_ENST00000398754.1_Missense_Mutation_p.L170M			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	170					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCGGCAGACTGGTGGGTAT	0.488													False	0	False	5:137424756	0	A	137424756	C	A	137424756	3	1	88	1	0	0	0	0	1	0	0	0	17480	564	20	3	526	3	WNT8A	5	137424756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141	137424756	43490504	6290	14002											
BRD8	10902	broad.mit.edu	37	chr5	137502365	137502366	+	In_Frame_Ins	INS	-	-	CGTCCC													agtgaaggaagcaagaggtgINStggtgaactgtgtaggacca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137502365_137502366insCGTCCC	ENST00000254900.5	-	10	1209_1210	c.838_839insGGGACG	c.(838-840)aca>aGGGACGca	p.280_280T>RDA	BRD8_ENST00000455658.2_In_Frame_Ins_p.239_239T>RDA|BRD8_ENST00000411594.2_Intron|BRD8_ENST00000402931.1_In_Frame_Ins_p.280_280T>RDA|BRD8_ENST00000230901.5_In_Frame_Ins_p.353_353T>RDA	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	280					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGCAAGAGGTGTGGTGAACTGT	0.46													False	0	False	5:137502365	0	CGTCCC	137502366	-	CGTCCC	137502365	7	5	88	1	0	1	1	0	0	0	0	0	1513	1377	48	0	3004	0	BRD8	5	137502365	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	77609	137502365	43412895	6291	14003											
CDC23	8697	broad.mit.edu	37	chr5	137525388	137525388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtttgcacttaaaataGtactgggccagatagcgaaa	9	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137525388G>A	ENST00000394886.2	-	15	1587	c.1557C>T	c.(1555-1557)taC>taT	p.Y519Y		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	519					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTTAAAATAGTACTGGGCCA	0.373													False	0	False	5:137525388	0	A	137525388	G	A	137525388	2	1	88	1	0	0	0	0	0	0	0	1	3084	1024	36	2		2	CDC23	5	137525388	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23023	137525388	43389872	6292	14004											
CDC23	8697	broad.mit.edu	37	chr5	137525404	137525404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatagtactgggccagatagCgaaaggcagtgctttcctcc	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137525404C>T	ENST00000394886.2	-	15	1571	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	514					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCAGATAGCGAAAGGCAGT	0.388													False	0	False	5:137525404	0	T	137525404	C	T	137525404	3	4	88	1	0	0	0	0	1	0	0	0	3084	768	27	1	260	1	CDC23	5	137525404	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	137525404	43389856	6293	14005											
GFRA3	2676	broad.mit.edu	37	chr5	137588741	137588741	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcctcacagcagggttTtcattctgtggaagaaatgg	13	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137588741T>G	ENST00000274721.3	-	8	1365	c.1119A>C	c.(1117-1119)gaA>gaC	p.E373D	GFRA3_ENST00000378362.3_Missense_Mutation_p.E342D	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	373					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCAGGGTTTTCATTCTGTG	0.537													False	0	True	5:137588741	0	G	137588741	T	G	137588741	3	3	88	1	0	0	0	0	1	0	0	0	6394	1838	64	4	87	4	GFRA3	5	137588741	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63337	137588741	43326519	6294	14006											
GFRA3	2676	broad.mit.edu	37	chr5	137593567	137593567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggagcacgcctccccGtaggccttgcgcagccggtc	14	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137593567G>A	ENST00000274721.3	-	4	792	c.546C>T	c.(544-546)taC>taT	p.Y182Y	GFRA3_ENST00000378362.3_Silent_p.Y151Y	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	182					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACGCCTCCCCGTAGGCCTTGC	0.652													False	0	True	5:137593567	0	A	137593567	G	A	137593567	2	1	88	1	0	0	0	0	0	0	0	1	6394	1140	40	1		1	GFRA3	5	137593567	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4826	137593567	43321693	6295	14007											
GFRA3	2676	broad.mit.edu	37	chr5	137599964	137599964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccaaggctgcgggcaCggtgaacggtccaatagatg	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137599964C>T	ENST00000274721.3	-	2	611	c.365G>A	c.(364-366)cGt>cAt	p.R122H	GFRA3_ENST00000378362.3_Missense_Mutation_p.R122H	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	122					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCTGCGGGCACGGTGAACGGT	0.547													False	0	False	5:137599964	0	T	137599964	C	T	137599964	3	4	88	1	0	0	0	0	1	0	0	0	6394	536	19	1	865	1	GFRA3	5	137599964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6397	137599964	43315296	6296	14008											
FAM53C	51307	broad.mit.edu	37	chr5	137681012	137681012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgccgcctcccctcaaaGtggctcctgggagagtgatg	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137681012G>A	ENST00000239906.5	+	4	1063	c.635G>A	c.(634-636)aGt>aAt	p.S212N	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.S212N	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	212										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCCCTCAAAGTGGCTCCTGG	0.627													False	0	True	5:137681012	0	A	137681012	G	A	137681012	3	1	88	1	0	0	0	0	1	0	0	0	5621	1029	36	2	645	2	FAM53C	5	137681012	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81048	137681012	43234248	6297	14009											
FAM53C	51307	broad.mit.edu	37	chr5	137681135	137681135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcccggagctctcccgCatcctccccagagctgccct	8	21	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137681135C>T	ENST00000239906.5	+	4	1186	c.758C>T	c.(757-759)gCa>gTa	p.A253V	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Missense_Mutation_p.H63Y|FAM53C_ENST00000434981.2_Missense_Mutation_p.A253V	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	253										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGCTCTCCCGCATCCTCCCCA	0.657													False	0	False	5:137681135	0	T	137681135	C	T	137681135	3	4	88	1	0	0	0	0	1	0	0	0	5621	710	25	2	768	2	FAM53C	5	137681135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123	137681135	43234125	6298	14010											
KDM3B	51780	broad.mit.edu	37	chr5	137765648	137765648	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagaagatccgggagctgctCcgaaaggtacgcccctgggt	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137765648C>A	ENST00000314358.5	+	21	5087	c.4887C>A	c.(4885-4887)ctC>ctA	p.L1629L	KDM3B_ENST00000542866.1_Silent_p.L661L|KDM3B_ENST00000394866.1_Silent_p.L1285L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1629	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GGGAGCTGCTCCGAAAGGTAC	0.527													False	0	False	5:137765648	0	A	137765648	C	A	137765648	2	1	88	1	0	0	0	0	0	0	0	1	8177	842	30	3		3	KDM3B	5	137765648	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84513	137765648	43149612	6299	14011											
KDM3B	51780	broad.mit.edu	37	chr5	137767233	137767233	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaacactcatacaaatcaTgaggataaactgcaggtaaa	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137767233T>C	ENST00000314358.5	+	23	5390	c.5190T>C	c.(5188-5190)caT>caC	p.H1730H	KDM3B_ENST00000542866.1_Silent_p.H762H|KDM3B_ENST00000394866.1_Silent_p.H1386H	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1730					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATACAAATCATGAGGATAAAC	0.423													False	0	False	5:137767233	0	C	137767233	T	C	137767233	2	2	88	1	0	0	0	0	0	0	0	1	8177	1461	51	4		4	KDM3B	5	137767233	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1585	137767233	43148027	6300	14012											
EGR1	1958	broad.mit.edu	37	chr5	137801568	137801568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaagctggaggagatgatgCtgctgagcaacggggctccc	15	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137801568C>A	ENST00000239938.4	+	1	390	c.118C>A	c.(118-120)Ctg>Atg	p.L40M		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	40					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGAGATGATGCTGCTGAGCAA	0.667													False	0	False	5:137801568	0	A	137801568	C	A	137801568	3	1	88	1	0	0	0	0	1	0	0	0	5001	796	28	3	120	3	EGR1	5	137801568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34335	137801568	43113692	6301	14013											
EGR1	1958	broad.mit.edu	37	chr5	137802696	137802696	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctccgcctccgcctcccaGagcccacccctgagctgcgc	8	23	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137802696G>T	ENST00000239938.4	+	2	830	c.558G>T	c.(556-558)caG>caT	p.Q186H		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	186					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCGCCTCCCAGAGCCCACCCC	0.637													False	0	False	5:137802696	0	T	137802696	G	T	137802696	3	4	88	1	0	0	0	0	1	0	0	0	5001	933	33	3	564	3	EGR1	5	137802696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1128	137802696	43112564	6302	14014											
HSPA9	3313	broad.mit.edu	37	chr5	137906735	137906735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttgggttggtgacagcCtgtcgcttggccggcattcc	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137906735C>A	ENST00000297185.3	-	4	449	c.324G>T	c.(322-324)caG>caT	p.Q108H		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	108					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	p.Q108Q(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGTGACAGCCTGTCGCTTGG	0.498													False	0	False	5:137906735	0	A	137906735	C	A	137906735	3	1	88	1	0	0	0	0	1	0	0	0	7466	680	24	3	1771	3	HSPA9	5	137906735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104039	137906735	43008525	6303	14015											
CTNNA1	1495	broad.mit.edu	37	chr5	138163244	138163244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgagcttcagcgaggagcGctttaggccttccctggagg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138163244G>A	ENST00000302763.7	+	7	989	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CTNNA1_ENST00000355078.5_Missense_Mutation_p.R197H|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R300H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	300					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCGAGGAGCGCTTTAGGCCT	0.507													False	0	False	5:138163244	0	A	138163244	G	A	138163244	3	1	88	1	0	0	0	0	1	0	0	0	4037	1087	38	1	921	1	CTNNA1	5	138163244	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256509	138163244	42752016	6304	14016											
CTNNA1	1495	broad.mit.edu	37	chr5	138221925	138221925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtaaagaaagaagtgatGcactcaattctgcaatagat	9	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138221925G>A	ENST00000302763.7	+	8	1177	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	CTNNA1_ENST00000355078.5_Missense_Mutation_p.A260T|CTNNA1_ENST00000540387.1_5'UTR|CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A363T	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	363	Interaction with alpha-actinin.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGAAGTGATGCACTCAATTC	0.368													False	0	False	5:138221925	0	A	138221925	G	A	138221925	3	1	88	1	0	0	0	0	1	0	0	0	4037	1319	46	2	1113	2	CTNNA1	5	138221925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58681	138221925	42693335	6305	14017											
CTNNA1	1495	broad.mit.edu	37	chr5	138260271	138260271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtggatggcctggaccGcacagctggtgcaattcgag	16	9	0	0	rs139655691	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138260271G>A	ENST00000302763.7	+	12	1709	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	CTNNA1_ENST00000355078.5_Missense_Mutation_p.R437H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R170H|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R540H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	540					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCCTGGACCGCACAGCTGGT	0.498													False	0	False	5:138260271	0	A	138260271	G	A	138260271	3	1	88	1	0	0	0	0	1	0	0	0	4037	1087	38	1	1661	1	CTNNA1	5	138260271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38346	138260271	42654989	6306	14018											
CTNNA1	1495	broad.mit.edu	37	chr5	138264950	138264950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagacccctgaggagttgGatgactctgactttgagaca	13	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138264950G>A	ENST00000302763.7	+	14	2005	c.1915G>A	c.(1915-1917)Gat>Aat	p.D639N	CTNNA1_ENST00000355078.5_Missense_Mutation_p.D536N|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D269N|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D639N	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	639					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAGGAGTTGGATGACTCTGA	0.572													False	0	False	5:138264950	0	A	138264950	G	A	138264950	3	1	88	1	0	0	0	0	1	0	0	0	4037	1174	41	2	1965	2	CTNNA1	5	138264950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4679	138264950	42650310	6307	14019											
SIL1	64374	broad.mit.edu	37	chr5	138356876	138356876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctggaaaaggcagcgcCcagcacaaacgcagcatact	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138356876C>T	ENST00000394817.2	-	7	890	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	CTB-46B19.2_ENST00000510110.1_RNA|CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000509534.1_Missense_Mutation_p.G258S|SIL1_ENST00000265195.5_Missense_Mutation_p.G251S	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	251	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGGCAGCGCCCAGCACAAAC	0.527									Marinesco-Sjgren syndrome				False	0	True	5:138356876	0	T	138356876	C	T	138356876	3	4	88	1	0	0	0	0	1	0	0	0	14402	623	22	2	650	2	SIL1	5	138356876	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91926	138356876	42558384	6308	14020											
MATR3	9782	broad.mit.edu	37	chr5	138643992	138643992	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccatctgtgctctatatgTgatttgccagttcattctaa	6	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138643992T>C	ENST00000394800.2	+	6	1437	c.888T>C	c.(886-888)tgT>tgC	p.C296C	MATR3_ENST00000502499.1_Intron|MATR3_ENST00000394805.3_Silent_p.C296C|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502929.1_Silent_p.C296C|MATR3_ENST00000361059.2_Silent_p.C296C|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Silent_p.C296C|MATR3_ENST00000509990.1_Silent_p.C296C			P43243	MATR3_HUMAN	matrin 3	296						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTCTATATGTGATTTGCCAG	0.383													False	0	False	5:138643992	0	C	138643992	T	C	138643992	2	2	88	1	0	0	0	0	0	0	0	1	9404	1702	59	4		4	MATR3	5	138643992	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	287116	138643992	42271268	6309	14021											
ECSCR	641700	broad.mit.edu	37	chr5	138837382	138837382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggtcagacttagaccGccaaggcctcctgaaacaga	10	12	2	4	rs147720581	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138837382G>A	ENST00000515823.1	-	3	189	c.117C>T	c.(115-117)ggC>ggT	p.G39G		NM_001077693.2	NP_001071161.1	Q19T08	ECSCR_HUMAN	endothelial cell surface expressed chemotaxis and apoptosis regulator	39					angiogenesis|cell differentiation|chemotaxis	integral to membrane|plasma membrane											GACTTAGACCGCCAAGGCCTC	0.557													False	0	False	5:138837382	0	A	138837382	G	A	138837382	2	1	88	1	0	0	0	0	0	0	0	1	4929	1074	38	1		1	ECSCR	5	138837382	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193390	138837382	42077878	6310	14022											
TMEM173	340061	broad.mit.edu	37	chr5	138860390	138860390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacctggcaggatcagccGcagatatccgatgtaatatg	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138860390G>A	ENST00000330794.4	-	5	838	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	169					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGGATCAGCCGCAGATATCCG	0.517													False	0	False	5:138860390	0	A	138860390	G	A	138860390	3	1	88	1	0	0	0	0	1	0	0	0	16171	1086	38	1	650	1	TMEM173	5	138860390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23008	138860390	42054870	6311	14023											
TMEM173	340061	broad.mit.edu	37	chr5	138860412	138860412	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatatccgatgtaatatgaCcatgccagcccatgggccac	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138860412C>T	ENST00000330794.4	-	5	816	c.483G>A	c.(481-483)tgG>tgA	p.W161*	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	161					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTAATATGACCATGCCAGCC	0.562													False	0	False	5:138860412	0	T	138860412	C	T	138860412	4	4	88	1	0	0	0	0	0	1	0	0	16171	508	18	2	672	2	TMEM173	5	138860412	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	138860412	42054848	6312	14024											
PSD2	84249	broad.mit.edu	37	chr5	139189208	139189208	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggacactgaggaacccacGaaggacccagatgtggcctt	13	12	0	2	rs138202504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139189208G>A	ENST00000274710.3	+	2	388	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	61					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACCCACGAAGGACCCAG	0.632													False	0	False	5:139189208	0	A	139189208	G	A	139189208	2	1	88	1	0	0	0	0	0	0	0	1	12723	1045	37	1		1	PSD2	5	139189208	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	328796	139189208	41726052	6313	14025											
PURA	5813	broad.mit.edu	37	chr5	139494240	139494240	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccgcaagtactacatggaTctcaaggagaaccagcgcgg	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139494240T>G	ENST00000331327.3	+	1	533	c.474T>G	c.(472-474)gaT>gaG	p.D158E		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	158					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTACATGGATCTCAAGGAGA	0.706													False	0	False	5:139494240	0	G	139494240	T	G	139494240	3	3	88	1	0	0	0	0	1	0	0	0	12906	1432	50	4	476	4	PURA	5	139494240	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	305032	139494240	41421020	6314	14026											
PFDN1	5201	broad.mit.edu	37	chr5	139661041	139661041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaaacttacttctagtTctttaattttttcttctgct	2	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139661041T>G	ENST00000261813.4	-	3	325	c.278A>C	c.(277-279)gAa>gCa	p.E93A	PFDN1_ENST00000524074.1_Missense_Mutation_p.E93A|CYSTM1_ENST00000509789.2_Intron|PFDN1_ENST00000510217.1_3'UTR|PFDN1_ENST00000514611.1_Intron	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	93					'de novo' posttranslational protein folding|cell cycle	prefoldin complex	sequence-specific DNA binding transcription factor activity|unfolded protein binding			endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTTCTAGTTCTTTAATTTT	0.328													False	0	False	5:139661041	0	G	139661041	T	G	139661041	3	3	88	1	0	0	0	0	1	0	0	0	11824	1783	62	4	98	4	PFDN1	5	139661041	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	166801	139661041	41254219	6315	14027											
ANKHD1	54882	broad.mit.edu	37	chr5	139818087	139818087	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgatggtaaagcttttgcaGatcctgaggtactccggaga	12	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139818087G>T	ENST00000297183.6	+	3	626	c.502G>T	c.(502-504)Gat>Tat	p.D168Y	ANKHD1_ENST00000394722.3_Missense_Mutation_p.D157Y|ANKHD1_ENST00000360839.2_Missense_Mutation_p.D168Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D168Y|ANKHD1_ENST00000394723.3_Missense_Mutation_p.D168Y	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTTTTGCAGATCCTGAGGT	0.433													False	0	False	5:139818087	0	T	139818087	G	T	139818087	3	4	88	1	0	0	0	0	1	0	0	0	628	942	33	3	512	3	ANKHD1	5	139818087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157046	139818087	41097173	6316	14028											
ANKHD1	54882	broad.mit.edu	37	chr5	139876204	139876204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgcatagtagaggagaCtgaaggcaagctgaatgaac	15	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139876204C>T	ENST00000297183.6	+	15	2469	c.2345C>T	c.(2344-2346)aCt>aTt	p.T782I	ANKHD1_ENST00000360839.2_Missense_Mutation_p.T782I|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T782I	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGAGGAGACTGAAGGCAAG	0.453													False	0	False	5:139876204	0	T	139876204	C	T	139876204	3	4	88	1	0	0	0	0	1	0	0	0	628	565	20	2	2509	2	ANKHD1	5	139876204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58117	139876204	41039056	6317	14029											
ANKHD1	54882	broad.mit.edu	37	chr5	139876462	139876462	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggtcagaaagacacagtgtCtctacaccaacagtgctctc	8	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139876462C>T	ENST00000297183.6	+	15	2727	c.2603C>T	c.(2602-2604)tCt>tTt	p.S868F	ANKHD1_ENST00000360839.2_Missense_Mutation_p.S868F|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S868F|ANKHD1_ENST00000462121.1_3'UTR	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACAGTGTCTCTACACCAA	0.448													False	0	False	5:139876462	0	T	139876462	C	T	139876462	3	4	88	1	0	0	0	0	1	0	0	0	628	913	32	2	2767	2	ANKHD1	5	139876462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	258	139876462	41038798	6318	14030											
APBB3	10307	broad.mit.edu	37	chr5	139938323	139938323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatccatggagctggtccgCttgagccgcaggcgggcacg	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139938323C>A	ENST00000357560.4	-	13	1751	c.1308G>T	c.(1306-1308)aaG>aaT	p.K436N	APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Missense_Mutation_p.K213N|APBB3_ENST00000356738.2_Missense_Mutation_p.K441N|APBB3_ENST00000412920.3_Missense_Mutation_p.K434N|APBB3_ENST00000354402.5_Missense_Mutation_p.K443N	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	436	PID 2.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTCCGCTTGAGCCGCA	0.662													False	0	False	5:139938323	0	A	139938323	C	A	139938323	3	1	88	1	0	0	0	0	1	0	0	0	764	796	28	3	156	3	APBB3	5	139938323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61861	139938323	40976937	6319	14031											
APBB3	10307	broad.mit.edu	37	chr5	139942032	139942032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatactgctcttccccggtGccaggtcctcttcaggtacc	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139942032G>A	ENST00000357560.4	-	5	847	c.404C>T	c.(403-405)gCa>gTa	p.A135V	APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000511201.2_Missense_Mutation_p.A135V|APBB3_ENST00000358580.5_Missense_Mutation_p.A135V|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.A135V|APBB3_ENST00000412920.3_Missense_Mutation_p.A135V|APBB3_ENST00000354402.5_Missense_Mutation_p.A135V	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	135	PID 1.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCCCGGTGCCAGGTCCTC	0.582													False	0	False	5:139942032	0	A	139942032	G	A	139942032	3	1	88	1	0	0	0	0	1	0	0	0	764	1319	46	2	1109	2	APBB3	5	139942032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3709	139942032	40973228	6320	14032											
APBB3	10307	broad.mit.edu	37	chr5	139943436	139943436	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagtacctgcagcatcgtgGatcttcctccagccaggagg	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139943436G>A	ENST00000357560.4	-	2	557	c.114C>T	c.(112-114)atC>atT	p.I38I	APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000511201.2_Silent_p.I38I|APBB3_ENST00000358580.5_Silent_p.I38I|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000356738.2_Silent_p.I38I|APBB3_ENST00000412920.3_Silent_p.I38I|APBB3_ENST00000354402.5_Silent_p.I38I	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	38	WW.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCATCGTGGATCTTCCTCC	0.597													False	0	False	5:139943436	0	A	139943436	G	A	139943436	2	1	88	1	0	0	0	0	0	0	0	1	764	1164	41	2		2	APBB3	5	139943436	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1404	139943436	40971824	6321	14033											
SLC35A4	113829	broad.mit.edu	37	chr5	139947164	139947164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctctgcctccggcaccGcctctctgtgcgtcaggggt	12	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139947164G>A	ENST00000514199.1	+	2	2096	c.410G>A	c.(409-411)cGc>cAc	p.R137H	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.R137H			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	137	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	p.R137L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGCACCGCCTCTCTGTG	0.592													False	0	False	5:139947164	0	A	139947164	G	A	139947164	3	1	88	1	0	0	0	0	1	0	0	0	14653	1087	38	1	412	1	SLC35A4	5	139947164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3728	139947164	40968096	6322	14034											
SLC35A4	113829	broad.mit.edu	37	chr5	139947326	139947326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactccgctaggcctgctgcTcctcattctgtactgcctca	7	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139947326T>C	ENST00000514199.1	+	2	2258	c.572T>C	c.(571-573)cTc>cCc	p.L191P	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.L191P			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	191	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTGCTGCTCCTCATTCTG	0.612													False	0	False	5:139947326	0	C	139947326	T	C	139947326	3	2	88	1	0	0	0	0	1	0	0	0	14653	1551	54	4	574	4	SLC35A4	5	139947326	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	162	139947326	40967934	6323	14035											
CD14	929	broad.mit.edu	37	chr5	140011662	140011662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtctgttgcagctgagatCgagcactctgagcttggctg	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140011662C>T	ENST00000302014.6	-	2	1536	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CD14_ENST00000401743.2_Missense_Mutation_p.D303N	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	303				D -> E (in Ref. 5; AAC83816).	apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTGAGATCGAGCACTCTG	0.602													False	0	False	5:140011662	0	T	140011662	C	T	140011662	3	4	88	1	0	0	0	0	1	0	0	0	2987	884	31	1	224	1	CD14	5	140011662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64336	140011662	40903598	6324	14036											
TMCO6	55374	broad.mit.edu	37	chr5	140023463	140023463	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagatgagcgtgttgtGgcagccttatttatccttct	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140023463G>T	ENST00000394671.3	+	9	1118	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Silent_p.V99V|TMCO6_ENST00000252100.6_Silent_p.V345V	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	339					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTGTTGTGGCAGCCTTAT	0.537													False	0	False	5:140023463	0	T	140023463	G	T	140023463	2	4	88	1	0	0	0	0	0	0	0	1	16082	1335	47	3		3	TMCO6	5	140023463	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11801	140023463	40891797	6325	14037											
IK	3550	broad.mit.edu	37	chr5	140040342	140040342	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaactcttgcttctccttaGgatggatgacatggctgtgg	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140040342G>T	ENST00000417647.2	+	16	1494		c.e16-1			NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II						cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTCCTTAGGATGGATGAC	0.463													False	0	True	5:140040342	0	T	140040342	G	T	140040342	5	4	88	1	0	0	0	0	0	0	1	0	7658	1014	35	3	1417	3	IK	5	140040342	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16879	140040342	40874918	6326	14038											
WDR55	54853	broad.mit.edu	37	chr5	140048517	140048517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaacattaagaggcgtcGgtttgagctgctctcagaac	10	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140048517G>A	ENST00000358337.5	+	5	839	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	201					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGGCGTCGGTTTGAGCTG	0.527													False	0	False	5:140048517	0	A	140048517	G	A	140048517	3	1	88	1	0	0	0	0	1	0	0	0	17391	1116	39	1	620	1	WDR55	5	140048517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8175	140048517	40866743	6327	14039											
WDR55	54853	broad.mit.edu	37	chr5	140049193	140049193	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagggaagagggagaagactCcatggctcaggaagaaaagg	17	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140049193C>A	ENST00000358337.5	+	7	1343	c.1106C>A	c.(1105-1107)tCc>tAc	p.S369Y	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	369					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAGACTCCATGGCTCAG	0.527													False	0	False	5:140049193	0	A	140049193	C	A	140049193	3	1	88	1	0	0	0	0	1	0	0	0	17391	855	30	3	1132	3	WDR55	5	140049193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	676	140049193	40866067	6328	14040											
HARS	3035	broad.mit.edu	37	chr5	140056961	140056961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccacctcaggtgcaagGcccttctctcccaccatctc	6	19	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140056961G>A	ENST00000504366.1	-	7	2386	c.567C>T	c.(565-567)ggC>ggT	p.G189G	HARS_ENST00000438307.2_Silent_p.G218G|HARS_ENST00000504156.1_Silent_p.G258G|HARS_ENST00000431330.2_Silent_p.G144G|HARS_ENST00000448240.1_Silent_p.G63G|HARS_ENST00000457527.2_Silent_p.G238G|HARS_ENST00000415192.2_Silent_p.G184G|HARS_ENST00000307633.3_Silent_p.G198G			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	258					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGGTGCAAGGCCCTTCTCTC	0.602													False	0	True	5:140056961	0	A	140056961	G	A	140056961	2	1	88	1	0	0	0	0	0	0	0	1	7006	1190	42	2		2	HARS	5	140056961	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7768	140056961	40858299	6329	14041											
PCDHA1	0	broad.mit.edu	37	chr5	140167711	140167711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctgtcctatgaactgcaGccggcagcaggcggcgcgcg	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140167711G>T	ENST00000504120.2	+	1	1836	c.1836G>T	c.(1834-1836)caG>caT	p.Q612H	PCDHA1_ENST00000378133.3_Missense_Mutation_p.Q612H|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAACTGCAGCCGGCAGCAG	0.677													False	0	False	5:140167711	0	T	140167711	G	T	140167711	3	4	88	1	0	0	0	0	1	0	0	0	11587	962	34	3	1838	3	PCDHA1	5	140167711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110750	140167711	40747549	6330	14042											
PCDHA2	0	broad.mit.edu	37	chr5	140175828	140175828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgagctggtggtgaccGcacgggacgggggctcgcct	17	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175828G>A	ENST00000526136.1	+	1	1279	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A427T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A427T	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTGACCGCACGGGACGG	0.632													False	0	False	5:140175828	0	A	140175828	G	A	140175828	3	1	88	1	0	0	0	0	1	0	0	0	11592	1087	38	1	1281	1	PCDHA2	5	140175828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8117	140175828	40739432	6331	14043											
PCDHA2	0	broad.mit.edu	37	chr5	140175911	140175911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacgacaacgcgccggcGttcgcacagcctgagtacac	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175911G>A	ENST00000526136.1	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.A454A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.A454A	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCGGCGTTCGCACAGC	0.647													False	0	False	5:140175911	0	A	140175911	G	A	140175911	2	1	88	1	0	0	0	0	0	0	0	1	11592	1132	40	1		1	PCDHA2	5	140175911	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	140175911	40739349	6332	14044											
PCDHA2	0	broad.mit.edu	37	chr5	140175956	140175956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtgaaggagaacaacccGccgggctgccacatcttcac	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175956G>A	ENST00000526136.1	+	1	1407	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.P469P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.P469P	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCGGGCTGCC	0.667													False	0	True	5:140175956	0	A	140175956	G	A	140175956	2	1	88	1	0	0	0	0	0	0	0	1	11592	1074	38	1		1	PCDHA2	5	140175956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	140175956	40739304	6333	14045											
PCDHA2	0	broad.mit.edu	37	chr5	140176178	140176178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgggatgcgggcgtgccGcctctgggcagcaacgtgac	18	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176178G>A	ENST00000526136.1	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.P543P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.P543P	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGTGCCGCCTCTGGGCA	0.692													False	0	False	5:140176178	0	A	140176178	G	A	140176178	2	1	88	1	0	0	0	0	0	0	0	1	11592	1074	38	1		1	PCDHA2	5	140176178	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222	140176178	40739082	6334	14046											
PCDHA2	0	broad.mit.edu	37	chr5	140176294	140176294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagtgagtgagctggtgcCgtggtcggtgggtgcagggc	21	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176294C>T	ENST00000526136.1	+	1	1745	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P582L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P582L	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCGTGGTCGGTG	0.657													False	0	False	5:140176294	0	T	140176294	C	T	140176294	3	4	88	1	0	0	0	0	1	0	0	0	11592	652	23	1	1747	1	PCDHA2	5	140176294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	140176294	40738966	6335	14047											
PCDHA2	0	broad.mit.edu	37	chr5	140176734	140176734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgctcggtgccacccaccGagggtgcgcgcgcgccagga	17	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176734G>A	ENST00000526136.1	+	1	2185	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E729K|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E729K	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACCCACCGAGGGTGCGCG	0.662													False	0	True	5:140176734	0	A	140176734	G	A	140176734	3	1	88	1	0	0	0	0	1	0	0	0	11592	1059	37	1	2187	1	PCDHA2	5	140176734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	440	140176734	40738526	6336	14048											
PCDHA3	0	broad.mit.edu	37	chr5	140182308	140182308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcgctgtcgagctacgtgtCggtacacgcggagagcggca	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140182308C>T	ENST00000522353.2	+	1	1526	c.1526C>T	c.(1525-1527)tCg>tTg	p.S509L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S509L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTACGTGTCGGTACACGCG	0.697													False	0	False	5:140182308	0	T	140182308	C	T	140182308	3	4	88	1	0	0	0	0	1	0	0	0	11593	893	31	1	1528	1	PCDHA3	5	140182308	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5574	140182308	40732952	6337	14049											
PCDHA5	0	broad.mit.edu	37	chr5	140202462	140202462	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgctccactcagcacggtcAttgctctgatcagcgtgtct	9	14	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140202462A>G	ENST00000529859.1	+	1	1102	c.1102A>G	c.(1102-1104)Att>Gtt	p.I368V	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.I368V|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.I368V	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCACGGTCATTGCTCTGAT	0.537													False	0	False	5:140202462	0	G	140202462	A	G	140202462	3	3	88	1	0	0	0	0	1	0	0	0	11595	217	8	4	1104	4	PCDHA5	5	140202462	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20154	140202462	40712798	6338	14050											
PCDHA5	0	broad.mit.edu	37	chr5	140202725	140202725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaacgctccggcgttcgcGcagccccagtataccgtgtt	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140202725G>A	ENST00000529859.1	+	1	1365	c.1365G>A	c.(1363-1365)gcG>gcA	p.A455A	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.A455A|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.A455A	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGTTCGCGCAGCCCCAGT	0.677													False	0	False	5:140202725	0	A	140202725	G	A	140202725	2	1	88	1	0	0	0	0	0	0	0	1	11595	1074	38	1		1	PCDHA5	5	140202725	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	140202725	40712535	6339	14051											
PCDHA5	0	broad.mit.edu	37	chr5	140203604	140203604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcggtggggagctggtcGtactcgcagcagaggagaca	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140203604G>A	ENST00000529859.1	+	1	2244	c.2244G>A	c.(2242-2244)tcG>tcA	p.S748S	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S748S|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.S748S	NM_018908.2	NP_061731.1												p.S748S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGTCGTACTCGCAGC	0.647													False	0	False	5:140203604	0	A	140203604	G	A	140203604	2	1	88	1	0	0	0	0	0	0	0	1	11595	1132	40	1		1	PCDHA5	5	140203604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	879	140203604	40711656	6340	14052											
PCDHA6	0	broad.mit.edu	37	chr5	140208858	140208858	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgacgcctcacgtcccTttcaagctggtgtccacctt	8	16	2	1	rs393935		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140208858T>C	ENST00000529310.1	+	1	1296	c.1182T>C	c.(1180-1182)ccT>ccC	p.P394P	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.P394P|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACGTCCCTTTCAAGCTGG	0.562													False	0	True	5:140208858	0	C	140208858	T	C	140208858	2	2	88	1	0	0	0	0	0	0	0	1	11596	1596	56	4		4	PCDHA6	5	140208858	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5254	140208858	40706402	6341	14053											
PCDHA7	0	broad.mit.edu	37	chr5	140214937	140214937	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagatcccagtcgaggctgtCgataaaggcttcccacccct	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140214937C>T	ENST00000525929.1	+	1	969	c.969C>T	c.(967-969)gtC>gtT	p.V323V	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.V323V|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAGGCTGTCGATAAAGGCT	0.473													False	0	False	5:140214937	0	T	140214937	C	T	140214937	2	4	88	1	0	0	0	0	0	0	0	1	11597	871	31	1		1	PCDHA7	5	140214937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6079	140214937	40700323	6342	14054											
PCDHA8	0	broad.mit.edu	37	chr5	140221663	140221663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatacgaagtaagaatattcGaaaacgcagacaacggaaca	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140221663G>A	ENST00000531613.1	+	1	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E253K|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAATATTCGAAAACGCAGA	0.433													False	0	True	5:140221663	0	A	140221663	G	A	140221663	3	1	88	1	0	0	0	0	1	0	0	0	11598	1059	37	1	759	1	PCDHA8	5	140221663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6726	140221663	40693597	6343	14055											
PCDHA8	0	broad.mit.edu	37	chr5	140222350	140222350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggtgtctgcgcgagacGcggacgcgcaggagaacgcg	17	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140222350G>A	ENST00000531613.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcg>Acg	p.A482T	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A482T|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGACGCGGACGCGCA	0.657													False	0	True	5:140222350	0	A	140222350	G	A	140222350	3	1	88	1	0	0	0	0	1	0	0	0	11598	1087	38	1	1446	1	PCDHA8	5	140222350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	687	140222350	40692910	6344	14056											
PCDHA9	0	broad.mit.edu	37	chr5	140229419	140229419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgtctgtggaggtggccGacgtgaacgacaacgcacca	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229419G>A	ENST00000378122.3	+	1	2063	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D447N|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTGGCCGACGTGAACGA	0.667													False	0	False	5:140229419	0	A	140229419	G	A	140229419	3	1	88	1	0	0	0	0	1	0	0	0	11599	1058	37	1	1341	1	PCDHA9	5	140229419	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7069	140229419	40685841	6345	14057											
PCDHA9	0	broad.mit.edu	37	chr5	140229528	140229528	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtctgcgcgggacgctgAcgcgcaggagaacgccctgg	18	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229528A>G	ENST00000378122.3	+	1	2172	c.1448A>G	c.(1447-1449)gAc>gGc	p.D483G	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D483G|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGACGCTGACGCGCAGGAG	0.662													False	0	False	5:140229528	0	G	140229528	A	G	140229528	3	3	88	1	0	0	0	0	1	0	0	0	11599	275	10	4	1450	4	PCDHA9	5	140229528	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	109	140229528	40685732	6346	14058											
PCDHA9	0	broad.mit.edu	37	chr5	140229786	140229786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggcgctgctgacacctcGgatgaggggcactgacggcg	17	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229786G>A	ENST00000378122.3	+	1	2430	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R569Q|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACACCTCGGATGAGGGGC	0.711													False	0	False	5:140229786	0	A	140229786	G	A	140229786	3	1	88	1	0	0	0	0	1	0	0	0	11599	1116	39	1	1708	1	PCDHA9	5	140229786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	258	140229786	40685474	6347	14059											
PCDHA9	0	broad.mit.edu	37	chr5	140229908	140229908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaacgcgtggctttcatacGagctgcagccagaaacggcc	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229908G>A	ENST00000378122.3	+	1	2552	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.E610K|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTTCATACGAGCTGCAGCC	0.672													False	0	False	5:140229908	0	A	140229908	G	A	140229908	3	1	88	1	0	0	0	0	1	0	0	0	11599	1059	37	1	1830	1	PCDHA9	5	140229908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122	140229908	40685352	6348	14060											
PCDHA10	0	broad.mit.edu	37	chr5	140235697	140235697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcgcttcttctcctcgcaGcctgggaggtggggagcggc	15	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140235697G>T	ENST00000307360.5	+	1	64	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A22S|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTCGCAGCCTGGGAGGT	0.597													False	0	False	5:140235697	0	T	140235697	G	T	140235697	3	4	88	1	0	0	0	0	1	0	0	0	11588	971	34	3	66	3	PCDHA10	5	140235697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5789	140235697	40679563	6349	14061											
PCDHA10	0	broad.mit.edu	37	chr5	140236636	140236636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggttggtcactgcacgGtcctagtggaactactggat	12	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140236636G>A	ENST00000307360.5	+	1	1003	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V335I|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTGCACGGTCCTAGTGGA	0.418													False	0	False	5:140236636	0	A	140236636	G	A	140236636	3	1	88	1	0	0	0	0	1	0	0	0	11588	1261	44	2	1005	2	PCDHA10	5	140236636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	939	140236636	40678624	6350	14062											
PCDHA10	0	broad.mit.edu	37	chr5	140237244	140237244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttccaggtgagcgcgcgCgatgggggcgtgccgcctct	17	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140237244C>T	ENST00000307360.5	+	1	1611	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGATGGGGGCG	0.682													False	0	True	5:140237244	0	T	140237244	C	T	140237244	2	4	88	1	0	0	0	0	0	0	0	1	11588	755	27	1		1	PCDHA10	5	140237244	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	608	140237244	40678016	6351	14063											
PCDHA10	0	broad.mit.edu	37	chr5	140237378	140237378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcagtgagctggtgctgcGgtcggtggttgcgggtcacg	19	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140237378G>A	ENST00000307360.5	+	1	1745	c.1745G>A	c.(1744-1746)cGg>cAg	p.R582Q	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCTGCGGTCGGTGGTT	0.657													False	0	True	5:140237378	0	A	140237378	G	A	140237378	3	1	88	1	0	0	0	0	1	0	0	0	11588	1116	39	1	1747	1	PCDHA10	5	140237378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134	140237378	40677882	6352	14064											
PCDHA11	0	broad.mit.edu	37	chr5	140249981	140249981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcgcgggatgggggttcGccttctctgtgggccacggc	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140249981G>A	ENST00000398640.2	+	1	1293	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGGGTTCGCCTTCTCTGT	0.622													False	0	False	5:140249981	0	A	140249981	G	A	140249981	2	1	88	1	0	0	0	0	0	0	0	1	11589	1074	38	1		1	PCDHA11	5	140249981	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12603	140249981	40665279	6353	14065											
PCDHA12	0	broad.mit.edu	37	chr5	140255355	140255355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagctgtgcgggcggagcGcggagtgcagtatccacctg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140255355G>A	ENST00000398631.2	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGGAGCGCGGAGTGCAG	0.567													False	0	False	5:140255355	0	A	140255355	G	A	140255355	3	1	88	1	0	0	0	0	1	0	0	0	11590	1087	38	1	300	1	PCDHA12	5	140255355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5374	140255355	40659905	6354	14066											
PCDHA12	0	broad.mit.edu	37	chr5	140256686	140256686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgcgacgccggcgtgccGcctctgggcagcaacgtgac	16	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140256686G>A	ENST00000398631.2	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGTGCCGCCTCTGGGCA	0.701													False	0	False	5:140256686	0	A	140256686	G	A	140256686	2	1	88	1	0	0	0	0	0	0	0	1	11590	1074	38	1		1	PCDHA12	5	140256686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1331	140256686	40658574	6355	14067											
PCDHAC1	0	broad.mit.edu	37	chr5	140306644	140306644	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtcctcgcggaactttcGcttcctttccagccaccgcg	8	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140306644G>A	ENST00000253807.2	+	1	167	c.167G>A	c.(166-168)cGc>cAc	p.R56H	PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R56H|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAACTTTCGCTTCCTTTCC	0.647													False	0	False	5:140306644	0	A	140306644	G	A	140306644	3	1	88	1	0	0	0	0	1	0	0	0	11600	1087	38	1	169	1	PCDHAC1	5	140306644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49958	140306644	40608616	6356	14068											
PCDHAC1	0	broad.mit.edu	37	chr5	140307056	140307056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagaaagcactggatcgCgaacagcgcgccacccacct	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140307056C>T	ENST00000253807.2	+	1	579	c.579C>T	c.(577-579)cgC>cgT	p.R193R	PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.R193R|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGGATCGCGAACAGCGCG	0.612													False	0	False	5:140307056	0	T	140307056	C	T	140307056	2	4	88	1	0	0	0	0	0	0	0	1	11600	755	27	1		1	PCDHAC1	5	140307056	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	412	140307056	40608204	6357	14069											
PCDHAC1	0	broad.mit.edu	37	chr5	140308328	140308328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttcagccaatataggtgaGctccgtactgctcgcttagt	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140308328G>T	ENST00000253807.2	+	1	1851	c.1851G>T	c.(1849-1851)gaG>gaT	p.E617D	PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E617D|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATAGGTGAGCTCCGTACTG	0.517													False	0	False	5:140308328	0	T	140308328	G	T	140308328	3	4	88	1	0	0	0	0	1	0	0	0	11600	962	34	3	1853	3	PCDHAC1	5	140308328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1272	140308328	40606932	6358	14070											
PCDHB1	0	broad.mit.edu	37	chr5	140431091	140431091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaatctttgcaaaacagGcaagtgggatctcttctcat	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140431091G>A	ENST00000306549.3	+	1	113	c.36G>A	c.(34-36)agG>agA	p.R12R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAAAACAGGCAAGTGGGAT	0.493													False	0	False	5:140431091	0	A	140431091	G	A	140431091	2	1	88	1	0	0	0	0	0	0	0	1	11602	1194	42	2		2	PCDHB1	5	140431091	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122763	140431091	40484169	6359	14071											
PCDHB1	0	broad.mit.edu	37	chr5	140431560	140431560	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggccttaacggtctccagAactacaccctgagtgccaat	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140431560A>C	ENST00000306549.3	+	1	582	c.505A>C	c.(505-507)Aac>Cac	p.N169H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		169	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTCTCCAGAACTACACCCT	0.567													False	0	False	5:140431560	0	C	140431560	A	C	140431560	3	2	88	1	0	0	0	0	1	0	0	0	11602	246	9	4	507	4	PCDHB1	5	140431560	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	469	140431560	40483700	6360	14072											
PCDHB1	0	broad.mit.edu	37	chr5	140432001	140432001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaagccattgaaacatacGacattgacattcaagctaca	6	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140432001G>A	ENST00000306549.3	+	1	1023	c.946G>A	c.(946-948)Gac>Aac	p.D316N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		316	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAACATACGACATTGACAT	0.463													False	0	False	5:140432001	0	A	140432001	G	A	140432001	3	1	88	1	0	0	0	0	1	0	0	0	11602	1058	37	1	948	1	PCDHB1	5	140432001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	441	140432001	40483259	6361	14073											
PCDHB2	0	broad.mit.edu	37	chr5	140475112	140475112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtcccagagtttgcaaaGctgctctatgaggtgcagat	11	9	1	3	rs149000816	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475112G>A	ENST00000194155.4	+	1	886	c.738G>A	c.(736-738)aaG>aaA	p.K246K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		246					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTTGCAAAGCTGCTCTATG	0.552													False	0	True	5:140475112	0	A	140475112	G	A	140475112	2	1	88	1	0	0	0	0	0	0	0	1	11610	962	34	2		2	PCDHB2	5	140475112	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43111	140475112	40440148	6362	14074											
PCDHB2	0	broad.mit.edu	37	chr5	140475722	140475722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgacgtcaatgacaacGcccccgccttcacccaaacc	5	20	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475722G>A	ENST00000194155.4	+	1	1496	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		450	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCGCCTT	0.597													False	0	True	5:140475722	0	A	140475722	G	A	140475722	3	1	88	1	0	0	0	0	1	0	0	0	11610	1087	38	1	1350	1	PCDHB2	5	140475722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	610	140475722	40439538	6363	14075											
PCDHB2	0	broad.mit.edu	37	chr5	140475757	140475757	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaacctcctacaccctgttCgtccgcgagaacaacagccc	6	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475757C>T	ENST00000194155.4	+	1	1531	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		461	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.632													False	0	False	5:140475757	0	T	140475757	C	T	140475757	2	4	88	1	0	0	0	0	0	0	0	1	11610	883	31	1		1	PCDHB2	5	140475757	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	140475757	40439503	6364	14076											
PCDHB3	0	broad.mit.edu	37	chr5	140480291	140480291	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcttgcttctctttgttTttctgggagggtctctggct	11	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480291T>G	ENST00000231130.2	+	1	58	c.58T>G	c.(58-60)Ttt>Gtt	p.F20V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		20					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTTTGTTTTTCTGGGAGG	0.507													False	0	True	5:140480291	0	G	140480291	T	G	140480291	3	3	88	1	0	0	0	0	1	0	0	0	11611	1841	64	4	60	4	PCDHB3	5	140480291	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4534	140480291	40434969	6365	14077											
PCDHB3	0	broad.mit.edu	37	chr5	140480933	140480933	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agataaacatccaggtcttaGatataaacgacaatgcacca	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480933G>A	ENST00000231130.2	+	1	700	c.700G>A	c.(700-702)Gat>Aat	p.D234N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		234	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGTCTTAGATATAAACGA	0.547													False	0	False	5:140480933	0	A	140480933	G	A	140480933	3	1	88	1	0	0	0	0	1	0	0	0	11611	942	33	2	702	2	PCDHB3	5	140480933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	642	140480933	40434327	6366	14078											
PCDHB3	0	broad.mit.edu	37	chr5	140482389	140482389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgcaggaggagcagggCggcctcggtgggtcgctgct	20	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140482389C>T	ENST00000231130.2	+	1	2156	c.2156C>T	c.(2155-2157)gCg>gTg	p.A719V		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		719					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGGGCGGCCTCGGTG	0.667													False	0	True	5:140482389	0	T	140482389	C	T	140482389	3	4	88	1	0	0	0	0	1	0	0	0	11611	768	27	1	2158	1	PCDHB3	5	140482389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1456	140482389	40432871	6367	14079											
PCDHB4	0	broad.mit.edu	37	chr5	140503186	140503186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgggcgcctcagaccgcGgttctccggctttgagcagc	15	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503186G>A	ENST00000194152.1	+	1	1606	c.1606G>A	c.(1606-1608)Ggt>Agt	p.G536S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGACCGCGGTTCTCCGGC	0.662													False	0	False	5:140503186	0	A	140503186	G	A	140503186	3	1	88	1	0	0	0	0	1	0	0	0	11612	1116	39	1	1608	1	PCDHB4	5	140503186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20797	140503186	40412074	6368	14080											
PCDHB4	0	broad.mit.edu	37	chr5	140503392	140503392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacgcctggctgtcgtaccaGctgctcaaggccacggagcc	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503392G>T	ENST00000194152.1	+	1	1812	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		604	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTCGTACCAGCTGCTCAAGG	0.716													False	0	False	5:140503392	0	T	140503392	G	T	140503392	3	4	88	1	0	0	0	0	1	0	0	0	11612	962	34	3	1814	3	PCDHB4	5	140503392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206	140503392	40411868	6369	14081											
PCDHB5	0	broad.mit.edu	37	chr5	140515588	140515588	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggagatggcagaaaatAcccagagctggtgctggaca	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140515588A>G	ENST00000231134.5	+	1	789	c.572A>G	c.(571-573)tAc>tGc	p.Y191C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		191	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCAGAAAATACCCAGAGCTG	0.552													False	0	True	5:140515588	0	G	140515588	A	G	140515588	3	3	88	1	0	0	0	0	1	0	0	0	11613	391	14	4	574	4	PCDHB5	5	140515588	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12196	140515588	40399672	6370	14082											
PCDHB5	0	broad.mit.edu	37	chr5	140516480	140516480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgcccaggtcacctactcGctgctgccgccccagaaccc	8	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516480G>A	ENST00000231134.5	+	1	1681	c.1464G>A	c.(1462-1464)tcG>tcA	p.S488S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		488	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACCTACTCGCTGCTGCCGC	0.647													False	0	False	5:140516480	0	A	140516480	G	A	140516480	2	1	88	1	0	0	0	0	0	0	0	1	11613	1074	38	1		1	PCDHB5	5	140516480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	892	140516480	40398780	6371	14083											
PCDHB5	0	broad.mit.edu	37	chr5	140516509	140516509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagaacccacacctgcGcctcgcctccctggtctcca	7	22	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516509G>A	ENST00000231134.5	+	1	1710	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		498	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACACCTGCGCCTCGCCTCC	0.667													False	0	True	5:140516509	0	A	140516509	G	A	140516509	3	1	88	1	0	0	0	0	1	0	0	0	11613	1087	38	1	1495	1	PCDHB5	5	140516509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	140516509	40398751	6372	14084											
PCDHB5	0	broad.mit.edu	37	chr5	140516822	140516822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagaacgcctggctgtcGtaccagctgctcaaggccac	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516822G>A	ENST00000231134.5	+	1	2023	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		602	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S602S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCTGTCGTACCAGCTGC	0.721													False	0	False	5:140516822	0	A	140516822	G	A	140516822	2	1	88	1	0	0	0	0	0	0	0	1	11613	1132	40	1		1	PCDHB5	5	140516822	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	313	140516822	40398438	6373	14085											
PCDHB5	0	broad.mit.edu	37	chr5	140517107	140517107	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcattggcctcggtgtcGtcgctcttcctcttttcggt	12	12	2	0	rs61745780		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140517107G>A	ENST00000231134.5	+	1	2308	c.2091G>A	c.(2089-2091)tcG>tcA	p.S697S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		697					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGGTGTCGTCGCTCTTCC	0.706													False	0	False	5:140517107	0	A	140517107	G	A	140517107	2	1	88	1	0	0	0	0	0	0	0	1	11613	1132	40	1		1	PCDHB5	5	140517107	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	285	140517107	40398153	6374	14086											
PCDHB5	0	broad.mit.edu	37	chr5	140517233	140517233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatctggtggacgtgagCggcaccgggaccctatccca	15	13	1	1	rs150150212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140517233C>T	ENST00000231134.5	+	1	2434	c.2217C>T	c.(2215-2217)agC>agT	p.S739S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		739					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGTGAGCGGCACCGGGA	0.642													False	0	False	5:140517233	0	T	140517233	C	T	140517233	2	4	88	1	0	0	0	0	0	0	0	1	11613	767	27	1		1	PCDHB5	5	140517233	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126	140517233	40398027	6375	14087											
PCDHB6	0	broad.mit.edu	37	chr5	140530394	140530394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctcacccgcaatcgcagcGaaggcaggaagttcccggag	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140530394G>A	ENST00000231136.1	+	1	556	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E50K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		186	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATCGCAGCGAAGGCAGGAA	0.582													False	0	False	5:140530394	0	A	140530394	G	A	140530394	3	1	88	1	0	0	0	0	1	0	0	0	11614	1059	37	1	558	1	PCDHB6	5	140530394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13161	140530394	40384866	6376	14088											
PCDHB6	0	broad.mit.edu	37	chr5	140530486	140530486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctgatcgcgctggatggCgggtctccgccccggtcagg	16	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140530486C>T	ENST00000231136.1	+	1	648	c.648C>T	c.(646-648)ggC>ggT	p.G216G	PCDHB6_ENST00000543635.1_Silent_p.G80G	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		216	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGATGGCGGGTCTCCGC	0.592													False	0	True	5:140530486	0	T	140530486	C	T	140530486	2	4	88	1	0	0	0	0	0	0	0	1	11614	755	27	1		1	PCDHB6	5	140530486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	140530486	40384774	6377	14089											
PCDHB6	0	broad.mit.edu	37	chr5	140531016	140531016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcccctttctactaagacCttccgtggagaatttctaca	5	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140531016C>A	ENST00000231136.1	+	1	1178	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P257H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		393	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACTAAGACCTTCCGTGGAG	0.468													False	0	False	5:140531016	0	A	140531016	C	A	140531016	3	1	88	1	0	0	0	0	1	0	0	0	11614	681	24	3	1180	3	PCDHB6	5	140531016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	530	140531016	40384244	6378	14090											
PCDHB6	0	broad.mit.edu	37	chr5	140531873	140531873	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggcggccccggcccaaGcccaggccgactctctcacc	11	20	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140531873G>T	ENST00000231136.1	+	1	2035	c.2035G>T	c.(2035-2037)Gcc>Tcc	p.A679S	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A543S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		679					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGCCCAAGCCCAGGCCGA	0.697													False	0	True	5:140531873	0	T	140531873	G	T	140531873	3	4	88	1	0	0	0	0	1	0	0	0	11614	971	34	3	2037	3	PCDHB6	5	140531873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	857	140531873	40383387	6379	14091											
PCDHB7	0	broad.mit.edu	37	chr5	140553378	140553378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacacattaactattcaggCcaaagacggcggcgggcttt	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140553378C>T	ENST00000231137.3	+	1	1136	c.962C>T	c.(961-963)gCc>gTc	p.A321V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		321	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTATTCAGGCCAAAGACGGC	0.423													False	0	False	5:140553378	0	T	140553378	C	T	140553378	3	4	88	1	0	0	0	0	1	0	0	0	11615	739	26	2	964	2	PCDHB7	5	140553378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21505	140553378	40361882	6380	14092											
PCDHB7	0	broad.mit.edu	37	chr5	140553895	140553895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctactccctgctgccgtcCcaggacccgcacctgcccct	7	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140553895C>T	ENST00000231137.3	+	1	1653	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		493	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGCCGTCCCAGGACCCGC	0.667													False	0	True	5:140553895	0	T	140553895	C	T	140553895	2	4	88	1	0	0	0	0	0	0	0	1	11615	610	22	2		2	PCDHB7	5	140553895	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	517	140553895	40361365	6381	14093											
PCDHB7	0	broad.mit.edu	37	chr5	140554076	140554076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtgctggtgctggacGccaacgacaactcgcccttc	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554076G>A	ENST00000231137.3	+	1	1834	c.1660G>A	c.(1660-1662)Gcc>Acc	p.A554T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		554	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.726													False	0	False	5:140554076	0	A	140554076	G	A	140554076	3	1	88	1	0	0	0	0	1	0	0	0	11615	1087	38	1	1662	1	PCDHB7	5	140554076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181	140554076	40361184	6382	14094											
PCDHB7	0	broad.mit.edu	37	chr5	140554408	140554408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacgtgctcctggtggaCggcttctcccagccctacct	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554408C>T	ENST00000231137.3	+	1	2166	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		664	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGTGGACGGCTTCTCCC	0.706													False	0	False	5:140554408	0	T	140554408	C	T	140554408	2	4	88	1	0	0	0	0	0	0	0	1	11615	535	19	1		1	PCDHB7	5	140554408	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332	140554408	40360852	6383	14095											
PCDHB7	0	broad.mit.edu	37	chr5	140554677	140554677	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtatgaggtgtgcctgaCtggaggctccgggacaaatg	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554677C>A	ENST00000231137.3	+	1	2435	c.2261C>A	c.(2260-2262)aCt>aAt	p.T754N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		754					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGTGCCTGACTGGAGGCTCC	0.567													False	0	False	5:140554677	0	A	140554677	C	A	140554677	3	1	88	1	0	0	0	0	1	0	0	0	11615	565	20	3	2263	3	PCDHB7	5	140554677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	269	140554677	40360583	6384	14096											
PCDHB7	0	broad.mit.edu	37	chr5	140554707	140554707	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgggacaaatgagttcaagtTtctgaaaccaattatcccca	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554707T>A	ENST00000231137.3	+	1	2465	c.2291T>A	c.(2290-2292)tTt>tAt	p.F764Y		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		764					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGTTCAAGTTTCTGAAACCA	0.507													False	0	True	5:140554707	0	A	140554707	T	A	140554707	3	1	88	1	0	0	0	0	1	0	0	0	11615	1841	64	5	2293	5	PCDHB7	5	140554707	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30	140554707	40360553	6385	14097											
PCDHB8	0	broad.mit.edu	37	chr5	140558420	140558420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtgaaggtctctgccacgGatgtagacacaggagtcaac	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140558420G>A	ENST00000239444.2	+	1	1050	c.805G>A	c.(805-807)Gat>Aat	p.D269N		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		269	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTGCCACGGATGTAGACAC	0.433													False	0	False	5:140558420	0	A	140558420	G	A	140558420	3	1	88	1	0	0	0	0	1	0	0	0	11616	1174	41	2	807	2	PCDHB8	5	140558420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3713	140558420	40356840	6386	14098											
PCDHB8	0	broad.mit.edu	37	chr5	140558931	140558931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaacacatctcaatatgaCcgtgctggtgtcggacgtca	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140558931C>T	ENST00000239444.2	+	1	1561	c.1316C>T	c.(1315-1317)aCc>aTc	p.T439I		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		439	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAATATGACCGTGCTGGTG	0.567													False	0	False	5:140558931	0	T	140558931	C	T	140558931	3	4	88	1	0	0	0	0	1	0	0	0	11616	507	18	2	1318	2	PCDHB8	5	140558931	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	511	140558931	40356329	6387	14099											
PCDHB8	0	broad.mit.edu	37	chr5	140559326	140559326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgctgcagaatggctccGcgccctgcaccgagctggtg	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140559326G>A	ENST00000239444.2	+	1	1956	c.1711G>A	c.(1711-1713)Gcg>Acg	p.A571T		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		571	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATGGCTCCGCGCCCTGCAC	0.716													False	0	False	5:140559326	0	A	140559326	G	A	140559326	3	1	88	1	0	0	0	0	1	0	0	0	11616	1087	38	1	1713	1	PCDHB8	5	140559326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	395	140559326	40355934	6388	14100											
PCDHB8	0	broad.mit.edu	37	chr5	140559622	140559622	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggacggcttctcccaGccctacctgccgcttccgga	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140559622G>T	ENST00000239444.2	+	1	2252	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		669	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTCTCCCAGCCCTACCTGC	0.682													False	0	True	5:140559622	0	T	140559622	G	T	140559622	3	4	88	1	0	0	0	0	1	0	0	0	11616	962	34	3	2009	3	PCDHB8	5	140559622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296	140559622	40355638	6389	14101											
PCDHB10	0	broad.mit.edu	37	chr5	140573455	140573455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacggtcctggtctccgacGtcaatgacaacgcccccgcc	9	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140573455G>A	ENST00000239446.4	+	1	1514	c.1330G>A	c.(1330-1332)Gtc>Atc	p.V444I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		444	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCGACGTCAATGACAA	0.587													False	0	False	5:140573455	0	A	140573455	G	A	140573455	3	1	88	1	0	0	0	0	1	0	0	0	11603	1145	40	1	1332	1	PCDHB10	5	140573455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13833	140573455	40341805	6390	14102											
PCDHB10	0	broad.mit.edu	37	chr5	140573467	140573467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgacgtcaatgacaacGcccccgccttcacccaaacc	5	20	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140573467G>A	ENST00000239446.4	+	1	1526	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		448	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCGCCTT	0.597													False	0	True	5:140573467	0	A	140573467	G	A	140573467	3	1	88	1	0	0	0	0	1	0	0	0	11603	1087	38	1	1344	1	PCDHB10	5	140573467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	140573467	40341793	6391	14103											
PCDHB10	0	broad.mit.edu	37	chr5	140574052	140574052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcacaggctcgtggtgCttgtcaaggacaatggcgag	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140574052C>A	ENST00000239446.4	+	1	2111	c.1927C>A	c.(1927-1929)Ctt>Att	p.L643I		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		643	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGTGGTGCTTGTCAAGGA	0.692													False	0	False	5:140574052	0	A	140574052	C	A	140574052	3	1	88	1	0	0	0	0	1	0	0	0	11603	797	28	3	1929	3	PCDHB10	5	140574052	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	585	140574052	40341208	6392	14104											
PCDHB12	0	broad.mit.edu	37	chr5	140590474	140590474	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgctcctggtggacggCttctcccagccctacctgcc	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140590474C>A	ENST00000239450.2	+	1	2184	c.1995C>A	c.(1993-1995)ggC>ggA	p.G665G	PCDHB12_ENST00000541609.1_Silent_p.G328G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		665	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGACGGCTTCTCCCAGC	0.706													False	0	False	5:140590474	0	A	140590474	C	A	140590474	2	1	88	1	0	0	0	0	0	0	0	1	11605	784	28	3		3	PCDHB12	5	140590474	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16422	140590474	40324786	6393	14105											
PCDHB12	0	broad.mit.edu	37	chr5	140590692	140590692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttccaggacatctggtggAcgtgagtggcaccgggaccc	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140590692A>G	ENST00000239450.2	+	1	2402	c.2213A>G	c.(2212-2214)gAc>gGc	p.D738G	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D401G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCTGGTGGACGTGAGTGGC	0.602													False	0	False	5:140590692	0	G	140590692	A	G	140590692	3	3	88	1	0	0	0	0	1	0	0	0	11605	275	10	4	2215	4	PCDHB12	5	140590692	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	218	140590692	40324568	6394	14106											
PCDHB13	0	broad.mit.edu	37	chr5	140595695	140595695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gctcctggtggacggcttctCccagccctacctgcctctcc	9	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140595695C>A	ENST00000341948.4	+	1	2187	c.2000C>A	c.(1999-2001)tCc>tAc	p.S667Y		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		667	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCTTCTCCCAGCCCTAC	0.701													False	0	True	5:140595695	0	A	140595695	C	A	140595695	3	1	88	1	0	0	0	0	1	0	0	0	11606	855	30	3	2002	3	PCDHB13	5	140595695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5003	140595695	40319565	6395	14107											
PCDHB13	0	broad.mit.edu	37	chr5	140595716	140595716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccctacctgcctctccCggaggcggccccgacccagg	11	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140595716C>T	ENST00000341948.4	+	1	2208	c.2021C>T	c.(2020-2022)cCg>cTg	p.P674L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		674					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCCTCTCCCGGAGGCGGCC	0.682													False	0	True	5:140595716	0	T	140595716	C	T	140595716	3	4	88	1	0	0	0	0	1	0	0	0	11606	652	23	1	2023	1	PCDHB13	5	140595716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	140595716	40319544	6396	14108											
PCDHB14	0	broad.mit.edu	37	chr5	140603244	140603244	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagggacctagggctgggggTggaggagctgtcttcacgtg	20	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140603244T>C	ENST00000239449.4	+	1	167	c.167T>C	c.(166-168)gTg>gCg	p.V56A	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		56	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCTGGGGGTGGAGGAGCTG	0.473													False	0	True	5:140603244	0	C	140603244	T	C	140603244	3	2	88	1	0	0	0	0	1	0	0	0	11607	1696	59	4	169	4	PCDHB14	5	140603244	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7528	140603244	40312016	6397	14109											
PCDHB14	0	broad.mit.edu	37	chr5	140603489	140603489	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacatttctagacaaggaaAtacttattaaaatatcagaa	4	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140603489A>C	ENST00000239449.4	+	1	412	c.412A>C	c.(412-414)Ata>Cta	p.I138L	PCDHB14_ENST00000515856.2_5'UTR	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		138	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACAAGGAAATACTTATTAA	0.393													False	0	True	5:140603489	0	C	140603489	A	C	140603489	3	2	88	1	0	0	0	0	1	0	0	0	11607	101	4	4	414	4	PCDHB14	5	140603489	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	245	140603489	40311771	6398	14110											
PCDHB14	0	broad.mit.edu	37	chr5	140604406	140604406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaccgtgctgctctctgaCgtcaatgacaacgcccccac	7	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604406C>T	ENST00000239449.4	+	1	1329	c.1329C>T	c.(1327-1329)gaC>gaT	p.D443D	PCDHB14_ENST00000515856.2_Silent_p.D290D	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		443	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCTCTGACGTCAATGACA	0.582													False	0	False	5:140604406	0	T	140604406	C	T	140604406	2	4	88	1	0	0	0	0	0	0	0	1	11607	535	19	1		1	PCDHB14	5	140604406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	917	140604406	40310854	6399	14111											
PCDHB14	0	broad.mit.edu	37	chr5	140604652	140604652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggactacgaggccctacaGgagttcgagtttcgcgtggg	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604652G>T	ENST00000239449.4	+	1	1575	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H	PCDHB14_ENST00000515856.2_Missense_Mutation_p.Q372H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		525	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCCTACAGGAGTTCGAGT	0.682													False	0	False	5:140604652	0	T	140604652	G	T	140604652	3	4	88	1	0	0	0	0	1	0	0	0	11607	991	35	3	1577	3	PCDHB14	5	140604652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246	140604652	40310608	6400	14112											
PCDHB14	0	broad.mit.edu	37	chr5	140604719	140604719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagcgaggcgctggtgCgcgtgctggtgctggacgcc	19	11	0	1	rs150404611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604719C>T	ENST00000239449.4	+	1	1642	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R395C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		548	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGTGCGCGTGCTGGT	0.706													False	0	False	5:140604719	0	T	140604719	C	T	140604719	3	4	88	1	0	0	0	0	1	0	0	0	11607	768	27	1	1644	1	PCDHB14	5	140604719	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	140604719	40310541	6401	14113											
PCDHB14	0	broad.mit.edu	37	chr5	140605012	140605012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctggtggtgctggtcaaGgacaatggcgagcctcctcg	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140605012G>T	ENST00000239449.4	+	1	1935	c.1935G>T	c.(1933-1935)aaG>aaT	p.K645N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.K492N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		645	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTCAAGGACAATGGCG	0.721													False	0	False	5:140605012	0	T	140605012	G	T	140605012	3	4	88	1	0	0	0	0	1	0	0	0	11607	991	35	3	1937	3	PCDHB14	5	140605012	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293	140605012	40310248	6402	14114											
PCDHB15	0	broad.mit.edu	37	chr5	140625193	140625193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgaacaaaggcaagtcctgaTtctccttcttttactggaag	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140625193T>C	ENST00000231173.3	+	1	47	c.47T>C	c.(46-48)aTt>aCt	p.I16T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		16					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGTCCTGATTCTCCTTCTT	0.532													False	0	False	5:140625193	0	C	140625193	T	C	140625193	3	2	88	1	0	0	0	0	1	0	0	0	11608	1493	52	4	49	4	PCDHB15	5	140625193	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20181	140625193	40290067	6403	14115											
PCDHB15	0	broad.mit.edu	37	chr5	140627157	140627157	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggcttctctcagccctacCtgccgctcccagaggcggcc	10	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140627157C>A	ENST00000231173.3	+	1	2011	c.2011C>A	c.(2011-2013)Ctg>Atg	p.L671M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		671	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGCCCTACCTGCCGCTCCC	0.667													False	0	False	5:140627157	0	A	140627157	C	A	140627157	3	1	88	1	0	0	0	0	1	0	0	0	11608	680	24	3	2013	3	PCDHB15	5	140627157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1964	140627157	40288103	6404	14116											
PCDHB15	0	broad.mit.edu	37	chr5	140627467	140627467	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctatattcccaaataTtgtaagccaggactctagga	8	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140627467T>G	ENST00000231173.3	+	1	2321	c.2321T>G	c.(2320-2322)aTt>aGt	p.I774S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		774					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCCAAATATTGTAAGCCAG	0.443													False	0	False	5:140627467	0	G	140627467	T	G	140627467	3	3	88	1	0	0	0	0	1	0	0	0	11608	1493	52	4	2323	4	PCDHB15	5	140627467	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	310	140627467	40287793	6405	14117											
SLC25A2	83884	broad.mit.edu	37	chr5	140682987	140682987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaccaaattgtattatggCtttttgctatcttccctgac	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140682987C>T	ENST00000239451.4	-	1	625	c.446G>A	c.(445-447)aGc>aAc	p.S149N		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	149					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGTATTATGGCTTTTTGCTAT	0.488													False	0	True	5:140682987	0	T	140682987	C	T	140682987	3	4	88	1	0	0	0	0	1	0	0	0	14562	797	28	2	463	2	SLC25A2	5	140682987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55520	140682987	40232273	6406	14118											
SLC25A2	83884	broad.mit.edu	37	chr5	140683056	140683056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacttcacaagctcagtgGggcagagagccagtgcagca	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140683056G>A	ENST00000239451.4	-	1	556	c.377C>T	c.(376-378)cCc>cTc	p.P126L		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	126					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AAGCTCAGTGGGGCAGAGAGC	0.522													False	0	True	5:140683056	0	A	140683056	G	A	140683056	3	1	88	1	0	0	0	0	1	0	0	0	14562	1232	43	2	532	2	SLC25A2	5	140683056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	140683056	40232204	6407	14119											
SLC25A2	83884	broad.mit.edu	37	chr5	140683087	140683087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcagcaaatgcagaggCgaaggaccccgcggctgcag	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140683087C>T	ENST00000239451.4	-	1	525	c.346G>A	c.(346-348)Gcc>Acc	p.A116T		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	116					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AATGCAGAGGCGAAGGACCCC	0.542													False	0	False	5:140683087	0	T	140683087	C	T	140683087	3	4	88	1	0	0	0	0	1	0	0	0	14562	768	27	1	563	1	SLC25A2	5	140683087	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	140683087	40232173	6408	14120											
PCDHGA2	0	broad.mit.edu	37	chr5	140719048	140719048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaacgcccttcagaagtaCgcactcaacccaaatgacca	7	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719048C>T	ENST00000394576.2	+	1	510	c.510C>T	c.(508-510)taC>taT	p.Y170Y	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGAAGTACGCACTCAACC	0.537													False	0	False	5:140719048	0	T	140719048	C	T	140719048	2	4	88	1	0	0	0	0	0	0	0	1	11622	547	19	1		1	PCDHGA2	5	140719048	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35961	140719048	40196212	6409	14121											
PCDHGA2	0	broad.mit.edu	37	chr5	140719530	140719530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggccttctaaccagagCgaaggttatcgtcacggttc	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719530C>T	ENST00000394576.2	+	1	992	c.992C>T	c.(991-993)gCg>gTg	p.A331V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.A331V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAACCAGAGCGAAGGTTATC	0.433													False	0	False	5:140719530	0	T	140719530	C	T	140719530	3	4	88	1	0	0	0	0	1	0	0	0	11622	768	27	1	994	1	PCDHGA2	5	140719530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	482	140719530	40195730	6410	14122											
PCDHGA2	0	broad.mit.edu	37	chr5	140719676	140719676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagagactctgggcagaacGcattcaccacctgttcactc	8	13	3	2	rs149474643	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719676G>A	ENST00000394576.2	+	1	1138	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCAGAACGCATTCACCAC	0.433													False	0	False	5:140719676	0	A	140719676	G	A	140719676	3	1	88	1	0	0	0	0	1	0	0	0	11622	1087	38	1	1140	1	PCDHGA2	5	140719676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	140719676	40195584	6411	14123											
PCDHGA2	0	broad.mit.edu	37	chr5	140720594	140720594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccctccgccatacccaacGattcggacctcactctgtac	6	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720594G>A	ENST00000394576.2	+	1	2056	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATACCCAACGATTCGGACCT	0.682													False	0	False	5:140720594	0	A	140720594	G	A	140720594	3	1	88	1	0	0	0	0	1	0	0	0	11622	1058	37	1	2058	1	PCDHGA2	5	140720594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	918	140720594	40194666	6412	14124											
PCDHGA2	0	broad.mit.edu	37	chr5	140720625	140720625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctgtacctggtggtggCggtggccgcggtctcctgcg	16	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720625C>T	ENST00000394576.2	+	1	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGTGGCCGCG	0.672													False	0	True	5:140720625	0	T	140720625	C	T	140720625	3	4	88	1	0	0	0	0	1	0	0	0	11622	768	27	1	2089	1	PCDHGA2	5	140720625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	140720625	40194635	6413	14125											
PCDHGA2	0	broad.mit.edu	37	chr5	140720708	140720708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctggcacaagtcacgcCtgctgcaggcttcaggaggc	15	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720708C>T	ENST00000394576.2	+	1	2170	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.L724V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTCACGCCTGCTGCAGGC	0.642													False	0	False	5:140720708	0	T	140720708	C	T	140720708	2	4	88	1	0	0	0	0	0	0	0	1	11622	680	24	2		2	PCDHGA2	5	140720708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	140720708	40194552	6414	14126											
PCDHGA3	0	broad.mit.edu	37	chr5	140724186	140724186	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtatccagagctggtgCtggagcgggccctggaccgt	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724186C>A	ENST00000253812.6	+	1	586	c.586C>A	c.(586-588)Ctg>Atg	p.L196M	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCTGGTGCTGGAGCGGGC	0.542													False	0	False	5:140724186	0	A	140724186	C	A	140724186	3	1	88	1	0	0	0	0	1	0	0	0	11623	796	28	3	588	3	PCDHGA3	5	140724186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3478	140724186	40191074	6415	14127											
PCDHGA3	0	broad.mit.edu	37	chr5	140724569	140724569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaaaattgaagcacaggaTggaccaggtcttctttcaag	9	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724569T>C	ENST00000253812.6	+	1	969	c.969T>C	c.(967-969)gaT>gaC	p.D323D	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCACAGGATGGACCAGGTC	0.388													False	0	False	5:140724569	0	C	140724569	T	C	140724569	2	2	88	1	0	0	0	0	0	0	0	1	11623	1461	51	4		4	PCDHGA3	5	140724569	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	383	140724569	40190691	6416	14128											
PCDHGA3	0	broad.mit.edu	37	chr5	140724707	140724707	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagagaaattgctcttatCgacgtgcatgaccgagattc	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724707C>T	ENST00000253812.6	+	1	1107	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.I369I(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCTTATCGACGTGCATG	0.438													False	0	False	5:140724707	0	T	140724707	C	T	140724707	2	4	88	1	0	0	0	0	0	0	0	1	11623	874	31	1		1	PCDHGA3	5	140724707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138	140724707	40190553	6417	14129											
PCDHGB1	0	broad.mit.edu	37	chr5	140730352	140730352	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcaaccccaatcaatacttCtctctgtcaacgaaggaaag	5	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140730352C>A	ENST00000523390.1	+	1	525	c.525C>A	c.(523-525)ttC>ttA	p.F175L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAATACTTCTCTCTGTCAA	0.443													False	0	True	5:140730352	0	A	140730352	C	A	140730352	3	1	88	1	0	0	0	0	1	0	0	0	11630	912	32	3	527	3	PCDHGB1	5	140730352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5645	140730352	40184908	6418	14130											
PCDHGB1	0	broad.mit.edu	37	chr5	140731024	140731024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcgaagaattattacaaGctggtgattgctggagccct	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140731024G>A	ENST00000523390.1	+	1	1197	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTATTACAAGCTGGTGATTG	0.478													False	0	False	5:140731024	0	A	140731024	G	A	140731024	2	1	88	1	0	0	0	0	0	0	0	1	11630	962	34	2		2	PCDHGB1	5	140731024	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	672	140731024	40184236	6419	14131											
PCDHGB1	0	broad.mit.edu	37	chr5	140731436	140731436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggaccagggctcccccGcgctcagcgccaacgtgagc	13	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140731436G>A	ENST00000523390.1	+	1	1609	c.1609G>A	c.(1609-1611)Gcg>Acg	p.A537T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1												p.A537T(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTCCCCCGCGCTCAGCGC	0.711													False	0	True	5:140731436	0	A	140731436	G	A	140731436	3	1	88	1	0	0	0	0	1	0	0	0	11630	1087	38	1	1611	1	PCDHGB1	5	140731436	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	412	140731436	40183824	6420	14132											
PCDHGA4	0	broad.mit.edu	37	chr5	140735709	140735709	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gattatgaggactctggattCtatgacatagatgtagaagc	11	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140735709C>T	ENST00000571252.1	+	1	942	c.942C>T	c.(940-942)ttC>ttT	p.F314F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTGGATTCTATGACATAG	0.438													False	0	False	5:140735709	0	T	140735709	C	T	140735709	2	4	88	1	0	0	0	0	0	0	0	1	11624	912	32	2		2	PCDHGA4	5	140735709	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4273	140735709	40179551	6421	14133											
PCDHGB2	0	broad.mit.edu	37	chr5	140741634	140741634	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccgccagcgcctgctggtCgctgtgcgtgatggaggaca	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140741634C>T	ENST00000522605.1	+	1	1932	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCTGGTCGCTGTGCGTG	0.687													False	0	False	5:140741634	0	T	140741634	C	T	140741634	2	4	88	1	0	0	0	0	0	0	0	1	11631	871	31	1		1	PCDHGB2	5	140741634	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5925	140741634	40173626	6422	14134											
PCDHGA5	0	broad.mit.edu	37	chr5	140746123	140746123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctcgcactttgtgggCgtggatggggttcgggcttt	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140746123C>T	ENST00000518069.1	+	1	2226	c.2226C>T	c.(2224-2226)ggC>ggT	p.G742G	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTGTGGGCGTGGATGGGG	0.627													False	0	True	5:140746123	0	T	140746123	C	T	140746123	2	4	88	1	0	0	0	0	0	0	0	1	11625	755	27	1		1	PCDHGA5	5	140746123	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4489	140746123	40169137	6423	14135											
PCDHGB3	0	broad.mit.edu	37	chr5	140751489	140751489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacgtgtccgtgagcgcgCggagcggggtggtgttcgcg	19	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140751489C>T	ENST00000576222.1	+	1	1659	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGAGCGCGCGGAGCGGGGT	0.667													False	0	True	5:140751489	0	T	140751489	C	T	140751489	3	4	88	1	0	0	0	0	1	0	0	0	11632	759	27	1	1530	1	PCDHGB3	5	140751489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5366	140751489	40163771	6424	14136											
PCDHGA6	0	broad.mit.edu	37	chr5	140754632	140754632	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgggatgggccaggtcttCgagacagagcgaaagtctta	14	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140754632C>T	ENST00000517434.1	+	1	982	c.982C>T	c.(982-984)Cga>Tga	p.R328*	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGTCTTCGAGACAGAGC	0.428													False	0	False	5:140754632	0	T	140754632	C	T	140754632	4	4	88	1	0	0	0	0	0	1	0	0	11626	876	31	1	984	1	PCDHGA6	5	140754632	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3143	140754632	40160628	6425	14137											
PCDHGA6	0	broad.mit.edu	37	chr5	140754948	140754948	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaaggaacaccacctctgtCtacagaaacaatcatctctc	4	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140754948C>T	ENST00000517434.1	+	1	1298	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTCTGTCTACAGAAACA	0.463													False	0	False	5:140754948	0	T	140754948	C	T	140754948	3	4	88	1	0	0	0	0	1	0	0	0	11626	913	32	2	1300	2	PCDHGA6	5	140754948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316	140754948	40160312	6426	14138											
PCDHGA6	0	broad.mit.edu	37	chr5	140755255	140755255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgtgggtgacagccagCgacagcggggacccgcctct	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140755255C>T	ENST00000517434.1	+	1	1605	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGCCAGCGACAGCGGGG	0.597													False	0	True	5:140755255	0	T	140755255	C	T	140755255	2	4	88	1	0	0	0	0	0	0	0	1	11626	767	27	1		1	PCDHGA6	5	140755255	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	307	140755255	40160005	6427	14139											
PCDHGA7	0	broad.mit.edu	37	chr5	140764319	140764319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgagccaggactctttgCggttgggctgtacacgggcg	16	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140764319C>T	ENST00000518325.1	+	1	1853	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTCTTTGCGGTTGGGCTG	0.642													False	0	False	5:140764319	0	T	140764319	C	T	140764319	3	4	88	1	0	0	0	0	1	0	0	0	11627	768	27	1	1855	1	PCDHGA7	5	140764319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9064	140764319	40150941	6428	14140											
PCDHGA8	0	broad.mit.edu	37	chr5	140772663	140772663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggatagatcgggaggagCtctgcgctcagagcccgcgg	17	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140772663C>A	ENST00000398604.2	+	1	283	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGGAGGAGCTCTGCGCTCA	0.517													False	0	False	5:140772663	0	A	140772663	C	A	140772663	3	1	88	1	0	0	0	0	1	0	0	0	11628	797	28	3	285	3	PCDHGA8	5	140772663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8344	140772663	40142597	6429	14141											
PCDHGA8	0	broad.mit.edu	37	chr5	140774173	140774173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggcggtggacagagactCgggccagaacgcctggctgt	18	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140774173C>T	ENST00000398604.2	+	1	1793	c.1793C>T	c.(1792-1794)tCg>tTg	p.S598L	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGAGACTCGGGCCAGAAC	0.711													False	0	True	5:140774173	0	T	140774173	C	T	140774173	3	4	88	1	0	0	0	0	1	0	0	0	11628	893	31	1	1795	1	PCDHGA8	5	140774173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1510	140774173	40141087	6430	14142											
PCDHGA9	0	broad.mit.edu	37	chr5	140783171	140783171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcacggcctcggatggcGgcgagccgcgtcgctccagc	14	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140783171G>A	ENST00000573521.1	+	1	652	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGATGGCGGCGAGCCGCG	0.582													False	0	False	5:140783171	0	A	140783171	G	A	140783171	3	1	88	1	0	0	0	0	1	0	0	0	11629	1116	39	1	654	1	PCDHGA9	5	140783171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8998	140783171	40132089	6431	14143											
PCDHGA9	0	broad.mit.edu	37	chr5	140783390	140783390	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaatgaaaaacaatctctgCtattccagcttaatgaaaat	4	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140783390C>A	ENST00000573521.1	+	1	871	c.871C>A	c.(871-873)Cta>Ata	p.L291I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATCTCTGCTATTCCAGCT	0.383													False	0	False	5:140783390	0	A	140783390	C	A	140783390	3	1	88	1	0	0	0	0	1	0	0	0	11629	796	28	3	873	3	PCDHGA9	5	140783390	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219	140783390	40131870	6432	14144											
PCDHGA9	0	broad.mit.edu	37	chr5	140784352	140784352	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctaccgcctattcaaggcCagtgagccagggctcttctc	9	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784352C>A	ENST00000573521.1	+	1	1833	c.1833C>A	c.(1831-1833)gcC>gcA	p.A611A	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTCAAGGCCAGTGAGCCAG	0.612													False	0	False	5:140784352	0	A	140784352	C	A	140784352	2	1	88	1	0	0	0	0	0	0	0	1	11629	581	21	3		3	PCDHGA9	5	140784352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	962	140784352	40130908	6433	14145											
PCDHGA9	0	broad.mit.edu	37	chr5	140784497	140784497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctcggccactgtcacgCtcacagtagccatagctgac	8	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784497C>T	ENST00000573521.1	+	1	1978	c.1978C>T	c.(1978-1980)Ctc>Ttc	p.L660F	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGTCACGCTCACAGTAGC	0.602													False	0	False	5:140784497	0	T	140784497	C	T	140784497	3	4	88	1	0	0	0	0	1	0	0	0	11629	797	28	2	1980	2	PCDHGA9	5	140784497	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	140784497	40130763	6434	14146											
PCDHGA9	0	broad.mit.edu	37	chr5	140784890	140784890	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgagaaaaatgagcctTtgtgcgtctctgttgattcc	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784890T>G	ENST00000573521.1	+	1	2371	c.2371T>G	c.(2371-2373)Ttg>Gtg	p.L791V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGAGCCTTTGTGCGTCTC	0.443													False	0	True	5:140784890	0	G	140784890	T	G	140784890	3	3	88	1	0	0	0	0	1	0	0	0	11629	1838	64	4	2373	4	PCDHGA9	5	140784890	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	393	140784890	40130370	6435	14147											
PCDHGB6	0	broad.mit.edu	37	chr5	140788005	140788005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcacttcagcgtagacgCggagagcggggacttacttg	15	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140788005C>T	ENST00000520790.1	+	1	236	c.236C>T	c.(235-237)gCg>gTg	p.A79V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTAGACGCGGAGAGCGGG	0.532													False	0	False	5:140788005	0	T	140788005	C	T	140788005	3	4	88	1	0	0	0	0	1	0	0	0	11635	768	27	1	238	1	PCDHGB6	5	140788005	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3115	140788005	40127255	6436	14148											
PCDHGB6	0	broad.mit.edu	37	chr5	140789477	140789477	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtacccagctctgggtcctGacggctccgcgttcttcgat	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140789477G>A	ENST00000520790.1	+	1	1708	c.1708G>A	c.(1708-1710)Gac>Aac	p.D570N	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGGTCCTGACGGCTCCGC	0.652													False	0	False	5:140789477	0	A	140789477	G	A	140789477	3	1	88	1	0	0	0	0	1	0	0	0	11635	1290	45	2	1710	2	PCDHGB6	5	140789477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1472	140789477	40125783	6437	14149											
PCDHGA10	0	broad.mit.edu	37	chr5	140792997	140792997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctctgaacccgcgcagCggcagcttgatcaccgcggg	12	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140792997C>T	ENST00000398610.2	+	1	255	c.255C>T	c.(253-255)agC>agT	p.S85S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCGCGCAGCGGCAGCTTGA	0.627													False	0	False	5:140792997	0	T	140792997	C	T	140792997	2	4	88	1	0	0	0	0	0	0	0	1	11619	767	27	1		1	PCDHGA10	5	140792997	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3520	140792997	40122263	6438	14150											
PCDHGA10	0	broad.mit.edu	37	chr5	140793471	140793471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgatgcaaatgacaacgcGccggtcttcaccttgccaga	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140793471G>A	ENST00000398610.2	+	1	729	c.729G>A	c.(727-729)gcG>gcA	p.A243A	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAACGCGCCGGTCTTCA	0.582													False	0	False	5:140793471	0	A	140793471	G	A	140793471	2	1	88	1	0	0	0	0	0	0	0	1	11619	1074	38	1		1	PCDHGA10	5	140793471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	474	140793471	40121789	6439	14151											
PCDHGB7	0	broad.mit.edu	37	chr5	140798805	140798805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtcagcctacctggtccAcgtgccagaaaacaaccagc	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140798805A>G	ENST00000398594.2	+	1	1379	c.1379A>G	c.(1378-1380)cAc>cGc	p.H460R	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCTGGTCCACGTGCCAGAA	0.572													False	0	False	5:140798805	0	G	140798805	A	G	140798805	3	3	88	1	0	0	0	0	1	0	0	0	11636	159	6	4	1381	4	PCDHGB7	5	140798805	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5334	140798805	40116455	6440	14152											
PCDHGB7	0	broad.mit.edu	37	chr5	140799067	140799067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgctcagcgccaatgtgagCctgcgcgtgttggtgggcga	17	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140799067C>A	ENST00000398594.2	+	1	1641	c.1641C>A	c.(1639-1641)agC>agA	p.S547R	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAATGTGAGCCTGCGCGTGT	0.711													False	0	False	5:140799067	0	A	140799067	C	A	140799067	3	1	88	1	0	0	0	0	1	0	0	0	11636	738	26	3	1643	3	PCDHGB7	5	140799067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	140799067	40116193	6441	14153											
PCDHGB7	0	broad.mit.edu	37	chr5	140799113	140799113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgacaacgcaccgcgggtgCtgtaccctgcgctgggtccc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140799113C>A	ENST00000398594.2	+	1	1687	c.1687C>A	c.(1687-1689)Ctg>Atg	p.L563M	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGGGTGCTGTACCCTGC	0.721													False	0	False	5:140799113	0	A	140799113	C	A	140799113	3	1	88	1	0	0	0	0	1	0	0	0	11636	796	28	3	1689	3	PCDHGB7	5	140799113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	140799113	40116147	6442	14154											
PCDHGA11	0	broad.mit.edu	37	chr5	140802413	140802413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatagcacgtgacagcggggAcccgcccctcagcagcaacg	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140802413A>G	ENST00000398587.2	+	1	1652	c.1619A>G	c.(1618-1620)gAc>gGc	p.D540G	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D540G|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGCGGGGACCCGCCCCTC	0.562													False	0	True	5:140802413	0	G	140802413	A	G	140802413	3	3	88	1	0	0	0	0	1	0	0	0	11620	275	10	4	1621	4	PCDHGA11	5	140802413	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3300	140802413	40112847	6443	14155											
PCDHGA12	0	broad.mit.edu	37	chr5	140810381	140810381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgtcctgctgggaatcCtcctggggactctgtgggag	16	10	1	0	rs138641753	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140810381C>A	ENST00000252085.3	+	1	197	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGGAATCCTCCTGGGGAC	0.537													False	0	False	5:140810381	0	A	140810381	C	A	140810381	3	1	88	1	0	0	0	0	1	0	0	0	11621	681	24	3	57	3	PCDHGA12	5	140810381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7968	140810381	40104879	6444	14156											
PCDHGA12	0	broad.mit.edu	37	chr5	140811072	140811072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcagcccgagtaccgcgCgagcgttccggagaatctgg	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140811072C>T	ENST00000252085.3	+	1	888	c.746C>T	c.(745-747)gCg>gTg	p.A249V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTACCGCGCGAGCGTTCCG	0.637													False	0	True	5:140811072	0	T	140811072	C	T	140811072	3	4	88	1	0	0	0	0	1	0	0	0	11621	768	27	1	748	1	PCDHGA12	5	140811072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	691	140811072	40104188	6445	14157											
PCDHGA12	0	broad.mit.edu	37	chr5	140811102	140811102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaatctggccttgggcaCgcagctgcttgtagtcaacg	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140811102C>T	ENST00000252085.3	+	1	918	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTGGGCACGCAGCTGCTT	0.597													False	0	False	5:140811102	0	T	140811102	C	T	140811102	3	4	88	1	0	0	0	0	1	0	0	0	11621	536	19	1	778	1	PCDHGA12	5	140811102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	140811102	40104158	6446	14158											
PCDHGA12	0	broad.mit.edu	37	chr5	140812391	140812391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaactctgaaacctcagacCtcactctgtacctggtggta	7	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140812391C>A	ENST00000252085.3	+	1	2207	c.2065C>A	c.(2065-2067)Ctc>Atc	p.L689I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCTCAGACCTCACTCTGTA	0.652													False	0	False	5:140812391	0	A	140812391	C	A	140812391	3	1	88	1	0	0	0	0	1	0	0	0	11621	681	24	3	2067	3	PCDHGA12	5	140812391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1289	140812391	40102869	6447	14159											
PCDHGC3	0	broad.mit.edu	37	chr5	140856674	140856674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaaagacaagggcgccaatCccgaaggagcacattgcaaa	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140856674C>T	ENST00000308177.3	+	1	1095	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCCAATCCCGAAGGAGC	0.542													False	0	True	5:140856674	0	T	140856674	C	T	140856674	3	4	88	1	0	0	0	0	1	0	0	0	11637	855	30	2	993	2	PCDHGC3	5	140856674	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44283	140856674	40058586	6448	14160											
PCDHGC3	0	broad.mit.edu	37	chr5	140856829	140856829	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgactgacctggatgctggCgagaacgggctggtgacctg	17	9	0	4	rs60063068	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140856829C>T	ENST00000308177.3	+	1	1250	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATGCTGGCGAGAACGGGC	0.567													False	0	False	5:140856829	0	T	140856829	C	T	140856829	2	4	88	1	0	0	0	0	0	0	0	1	11637	755	27	1		1	PCDHGC3	5	140856829	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	140856829	40058431	6449	14161											
PCDHGC4	0	broad.mit.edu	37	chr5	140867053	140867053	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaggccactctcatggCtgtacacccttggcttctgc	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140867053C>A	ENST00000306593.1	+	1	2313	c.2313C>A	c.(2311-2313)ggC>ggA	p.G771G	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTCATGGCTGTACACCCT	0.572													False	0	False	5:140867053	0	A	140867053	C	A	140867053	2	1	88	1	0	0	0	0	0	0	0	1	11638	784	28	3		3	PCDHGC4	5	140867053	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10224	140867053	40048207	6450	14162											
PCDHGC5	0	broad.mit.edu	37	chr5	140870231	140870231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgggctcccttctttgcaCtgtggctgcctcagatccag	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870231C>T	ENST00000252087.1	+	1	1424	c.1424C>T	c.(1423-1425)aCt>aTt	p.T475I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		475	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTTGCACTGTGGCTGCC	0.527													False	0	False	5:140870231	0	T	140870231	C	T	140870231	3	4	88	1	0	0	0	0	1	0	0	0	11639	565	20	2	1426	2	PCDHGC5	5	140870231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3178	140870231	40045029	6451	14163											
PCDHGC5	0	broad.mit.edu	37	chr5	140870737	140870737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgactctgacacccagcagGtggtggtcctggtgagggac	15	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870737G>A	ENST00000252087.1	+	1	1930	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		644	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCAGCAGGTGGTGGTCCT	0.597													False	0	True	5:140870737	0	A	140870737	G	A	140870737	3	1	88	1	0	0	0	0	1	0	0	0	11639	1261	44	2	1932	2	PCDHGC5	5	140870737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506	140870737	40044523	6452	14164											
PCDHGC5	0	broad.mit.edu	37	chr5	140870861	140870861	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacttcctcatacaccctcCtgagcgttcagaccttaccc	5	17	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870861C>A	ENST00000252087.1	+	1	2054	c.2054C>A	c.(2053-2055)cCt>cAt	p.P685H	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		685					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACACCCTCCTGAGCGTTCA	0.537													False	0	False	5:140870861	0	A	140870861	C	A	140870861	3	1	88	1	0	0	0	0	1	0	0	0	11639	681	24	3	2056	3	PCDHGC5	5	140870861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124	140870861	40044399	6453	14165											
DIAPH1	1729	broad.mit.edu	37	chr5	140903715	140903715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtgcttacttaccttgaCggggccctctcttccgtcgg	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140903715C>T	ENST00000253811.6	-	27	3799	c.3659G>A	c.(3658-3660)cGt>cAt	p.R1220H	DIAPH1_ENST00000398562.2_Missense_Mutation_p.R1195H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R1207H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R1211H|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R1219H|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R1210H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R1162H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R1216H			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1219	DAD.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTACCTTGACGGGGCCCTCT	0.532													False	0	True	5:140903715	0	T	140903715	C	T	140903715	3	4	88	1	0	0	0	0	1	0	0	0	4548	536	19	1	170	1	DIAPH1	5	140903715	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32854	140903715	40011545	6454	14166											
DIAPH1	1729	broad.mit.edu	37	chr5	140913993	140913993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttctccaccttcttgatcCttcttggctagcagggaaaa	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140913993C>A	ENST00000253811.6	-	19	2633	c.2493G>T	c.(2491-2493)aaG>aaT	p.K831N	DIAPH1_ENST00000398562.2_Missense_Mutation_p.K806N|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K818N|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K822N|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000398557.4_Missense_Mutation_p.K830N|DIAPH1_ENST00000389057.5_Missense_Mutation_p.K821N|DIAPH1_ENST00000520569.1_Missense_Mutation_p.K773N|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K827N			O60610	DIAP1_HUMAN	diaphanous-related formin 1	830	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTGATCCTTCTTGGCTA	0.413													False	0	False	5:140913993	0	A	140913993	C	A	140913993	3	1	88	1	0	0	0	0	1	0	0	0	4548	680	24	3	1368	3	DIAPH1	5	140913993	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10278	140913993	40001267	6455	14167											
DIAPH1	1729	broad.mit.edu	37	chr5	140962828	140962828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaatgtccaataaggaggCcaagccttcagcaccaaatg	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140962828C>T	ENST00000253811.6	-	6	705	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	DIAPH1_ENST00000398562.2_Missense_Mutation_p.A180T|DIAPH1_ENST00000518047.1_Missense_Mutation_p.A180T|DIAPH1_ENST00000398566.3_Missense_Mutation_p.A180T|DIAPH1_ENST00000398557.4_Missense_Mutation_p.A189T|DIAPH1_ENST00000389057.5_Missense_Mutation_p.A180T|DIAPH1_ENST00000520569.1_Missense_Mutation_p.A135T|DIAPH1_ENST00000389054.3_Missense_Mutation_p.A189T			O60610	DIAP1_HUMAN	diaphanous-related formin 1	189	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAAGGAGGCCAAGCCTTCA	0.413													False	0	False	5:140962828	0	T	140962828	C	T	140962828	3	4	88	1	0	0	0	0	1	0	0	0	4548	739	26	2	3345	2	DIAPH1	5	140962828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48835	140962828	39952432	6456	14168											
ARAP3	64411	broad.mit.edu	37	chr5	141041335	141041335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctttatatttctccaggCgctgattcttctggggcagc	9	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141041335C>T	ENST00000239440.4	-	21	3100	c.3035G>A	c.(3034-3036)cGc>cAc	p.R1012H	ARAP3_ENST00000508305.1_Missense_Mutation_p.R843H|ARAP3_ENST00000513878.1_Missense_Mutation_p.R674H|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1012	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTTCTCCAGGCGCTGATTCTT	0.572													False	0	False	5:141041335	0	T	141041335	C	T	141041335	3	4	88	1	0	0	0	0	1	0	0	0	842	768	27	1	1651	1	ARAP3	5	141041335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78507	141041335	39873925	6457	14169											
ARAP3	64411	broad.mit.edu	37	chr5	141046090	141046090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcaccacgaaggaggcCaaaccctgacagccagagac	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141046090C>T	ENST00000239440.4	-	17	2538	c.2473G>A	c.(2473-2475)Ggc>Agc	p.G825S	ARAP3_ENST00000508305.1_Missense_Mutation_p.G727S|ARAP3_ENST00000513878.1_Missense_Mutation_p.G487S|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	825					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGAAGGAGGCCAAACCCTGAC	0.706													False	0	True	5:141046090	0	T	141046090	C	T	141046090	3	4	88	1	0	0	0	0	1	0	0	0	842	594	21	2	2229	2	ARAP3	5	141046090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4755	141046090	39869170	6458	14170											
ARAP3	64411	broad.mit.edu	37	chr5	141059831	141059831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggttccatggcactatctgAtttgggatccagggagccct	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141059831A>G	ENST00000239440.4	-	2	288	c.223T>C	c.(223-225)Tca>Cca	p.S75P	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	75					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCACTATCTGATTTGGGATCC	0.632													False	0	True	5:141059831	0	G	141059831	A	G	141059831	3	3	88	1	0	0	0	0	1	0	0	0	842	333	12	4	4539	4	ARAP3	5	141059831	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13741	141059831	39855429	6459	14171											
ARAP3	64411	broad.mit.edu	37	chr5	141059951	141059951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcccaggccccgggctgCacctgctgtagccaggccat	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141059951C>T	ENST00000239440.4	-	2	168	c.103G>A	c.(103-105)Gca>Aca	p.A35T	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	35	SAM.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCCGGGCTGCACCTGCTGTA	0.647													False	0	False	5:141059951	0	T	141059951	C	T	141059951	3	4	88	1	0	0	0	0	1	0	0	0	842	710	25	2	4659	2	ARAP3	5	141059951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120	141059951	39855309	6460	14172											
PCDH1	5097	broad.mit.edu	37	chr5	141243182	141243182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttttgtttcccttggagGccttgccactgggcttgggg	14	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141243182G>A	ENST00000287008.3	-	3	2861	c.2714C>T	c.(2713-2715)gCc>gTc	p.A905V	PCDH1_ENST00000536585.1_Missense_Mutation_p.A883V|PCDH1_ENST00000456271.1_Missense_Mutation_p.A893V|PCDH1_ENST00000394536.3_Missense_Mutation_p.A905V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	905					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCCCTTGGAGGCCTTGCCACT	0.577													False	0	False	5:141243182	0	A	141243182	G	A	141243182	3	1	88	1	0	0	0	0	1	0	0	0	11574	1203	42	2	1095	2	PCDH1	5	141243182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183231	141243182	39672078	6461	14173											
PCDH1	5097	broad.mit.edu	37	chr5	141248692	141248692	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcacggagcccctcacggtcGatggaggtctcggtggtgaa	15	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141248692G>A	ENST00000287008.3	-	2	492	c.345C>T	c.(343-345)atC>atT	p.I115I	PCDH1_ENST00000536585.1_Silent_p.I93I|PCDH1_ENST00000456271.1_Silent_p.I115I|PCDH1_ENST00000394536.3_Silent_p.I115I|PCDH1_ENST00000503492.1_Silent_p.I115I	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	115	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCTCACGGTCGATGGAGGTCT	0.572													False	0	False	5:141248692	0	A	141248692	G	A	141248692	2	1	88	1	0	0	0	0	0	0	0	1	11574	1048	37	1		1	PCDH1	5	141248692	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5510	141248692	39666568	6462	14174											
KIAA0141	9812	broad.mit.edu	37	chr5	141304986	141304986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatctaggtcaggtccccAtggcccaggcacgagcgggg	14	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141304986A>G	ENST00000432126.2	+	3	292	c.158A>G	c.(157-159)cAt>cGt	p.H53R	KIAA0141_ENST00000194118.4_Missense_Mutation_p.H53R	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	53					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGTCCCCATGGCCCAGGC	0.557													False	0	True	5:141304986	0	G	141304986	A	G	141304986	3	3	88	1	0	0	0	0	1	0	0	0	8206	217	8	4	168	4	KIAA0141	5	141304986	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56294	141304986	39610274	6463	14175											
KIAA0141	9812	broad.mit.edu	37	chr5	141312861	141312861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcgaccacacggcagcCttttcttacttccagaaagc	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141312861C>T	ENST00000432126.2	+	8	926	c.792C>T	c.(790-792)gcC>gcT	p.A264A	KIAA0141_ENST00000506775.1_3'UTR|KIAA0141_ENST00000194118.4_Silent_p.A264A	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	264					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGCAGCCTTTTCTTACT	0.557													False	0	True	5:141312861	0	T	141312861	C	T	141312861	2	4	88	1	0	0	0	0	0	0	0	1	8206	668	24	2		2	KIAA0141	5	141312861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7875	141312861	39602399	6464	14176											
PCDH12	51294	broad.mit.edu	37	chr5	141334893	141334893	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggttgaccgtgtcttgcaGcacctctcggctctccgccg	12	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141334893G>T	ENST00000231484.3	-	1	3734	c.2524C>A	c.(2524-2526)Ctg>Atg	p.L842M		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	842					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTTGCAGCACCTCTCGG	0.652													False	0	False	5:141334893	0	T	141334893	G	T	141334893	3	4	88	1	0	0	0	0	1	0	0	0	11578	962	34	3	1046	3	PCDH12	5	141334893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22032	141334893	39580367	6465	14177											
PCDH12	51294	broad.mit.edu	37	chr5	141335130	141335130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttctggggcctcttggGctgctggcggtaggtggact	18	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141335130G>A	ENST00000231484.3	-	1	3497	c.2287C>T	c.(2287-2289)Ccc>Tcc	p.P763S		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	763					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCTTGGGCTGCTGGCGG	0.587													False	0	True	5:141335130	0	A	141335130	G	A	141335130	3	1	88	1	0	0	0	0	1	0	0	0	11578	1203	42	2	1283	2	PCDH12	5	141335130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237	141335130	39580130	6466	14178											
PCDH12	51294	broad.mit.edu	37	chr5	141335291	141335291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgacatgctcaaggccccaGgcttgcgggctgagtccctc	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141335291G>T	ENST00000231484.3	-	1	3336	c.2126C>A	c.(2125-2127)cCt>cAt	p.P709H		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	709	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGCCCCAGGCTTGCGGGC	0.587													False	0	False	5:141335291	0	T	141335291	G	T	141335291	3	4	88	1	0	0	0	0	1	0	0	0	11578	1000	35	3	1444	3	PCDH12	5	141335291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	141335291	39579969	6467	14179											
PCDH12	51294	broad.mit.edu	37	chr5	141336470	141336470	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacatccacctcgtaggcaGggttcttttcatagtctaga	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141336470G>T	ENST00000231484.3	-	1	2157	c.947C>A	c.(946-948)cCt>cAt	p.P316H		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	316	Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTAGGCAGGGTTCTTTTC	0.512													False	0	True	5:141336470	0	T	141336470	G	T	141336470	3	4	88	1	0	0	0	0	1	0	0	0	11578	1000	35	3	2623	3	PCDH12	5	141336470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1179	141336470	39578790	6468	14180											
PCDH12	51294	broad.mit.edu	37	chr5	141337392	141337392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctggccccaaaagccccaGcagaagttgcagaagttgca	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141337392G>T	ENST00000231484.3	-	1	1235	c.25C>A	c.(25-27)Ctg>Atg	p.L9M		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	9					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGCCCCAGCAGAAGTTGC	0.498													False	0	False	5:141337392	0	T	141337392	G	T	141337392	3	4	88	1	0	0	0	0	1	0	0	0	11578	962	34	3	3545	3	PCDH12	5	141337392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	922	141337392	39577868	6469	14181											
GNPDA1	10007	broad.mit.edu	37	chr5	141384546	141384546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgtcaaggccatggtgGgcaccttggtgagttctcca	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384546G>A	ENST00000508177.1	-	4	1303	c.545C>T	c.(544-546)cCc>cTc	p.P182L	GNPDA1_ENST00000458112.2_Missense_Mutation_p.P148L|GNPDA1_ENST00000311337.6_Missense_Mutation_p.P182L|GNPDA1_ENST00000500692.2_Missense_Mutation_p.P182L|GNPDA1_ENST00000513454.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000503794.1_Missense_Mutation_p.P182L|GNPDA1_ENST00000542860.1_Missense_Mutation_p.P105L			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	182					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCATGGTGGGCACCTTGGT	0.587													False	0	True	5:141384546	0	A	141384546	G	A	141384546	3	1	88	1	0	0	0	0	1	0	0	0	6587	1232	43	2	336	2	GNPDA1	5	141384546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47154	141384546	39530714	6470	14182											
GNPDA1	10007	broad.mit.edu	37	chr5	141384657	141384657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcctggctcgttgaagGcaatgtgtccatcagggccg	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384657G>A	ENST00000508177.1	-	4	1192	c.434C>T	c.(433-435)gCc>gTc	p.A145V	GNPDA1_ENST00000458112.2_Missense_Mutation_p.A111V|GNPDA1_ENST00000311337.6_Missense_Mutation_p.A145V|GNPDA1_ENST00000500692.2_Missense_Mutation_p.A145V|GNPDA1_ENST00000513454.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000503794.1_Missense_Mutation_p.A145V|GNPDA1_ENST00000542860.1_Intron			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	145					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTTGAAGGCAATGTGTCC	0.562													False	0	False	5:141384657	0	A	141384657	G	A	141384657	3	1	88	1	0	0	0	0	1	0	0	0	6587	1203	42	2	447	2	GNPDA1	5	141384657	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	141384657	39530603	6471	14183											
GNPDA1	10007	broad.mit.edu	37	chr5	141384674	141384674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcaatgtgtccatcaggGccgatgcctatagggagaga	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384674G>A	ENST00000508177.1	-	4	1175	c.417C>T	c.(415-417)ggC>ggT	p.G139G	GNPDA1_ENST00000458112.2_Silent_p.G105G|GNPDA1_ENST00000311337.6_Silent_p.G139G|GNPDA1_ENST00000500692.2_Silent_p.G139G|GNPDA1_ENST00000513454.1_Silent_p.G139G|GNPDA1_ENST00000503794.1_Silent_p.G139G|GNPDA1_ENST00000542860.1_Intron			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	139					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCATCAGGGCCGATGCCTA	0.557													False	0	True	5:141384674	0	A	141384674	G	A	141384674	2	1	88	1	0	0	0	0	0	0	0	1	6587	1190	42	2		2	GNPDA1	5	141384674	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	141384674	39530586	6472	14184											
NDFIP1	80762	broad.mit.edu	37	chr5	141511891	141511891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaggctgaagctactatccCtttggttcctgggagagtga	12	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141511891C>A	ENST00000253814.4	+	3	736	c.266C>A	c.(265-267)cCt>cAt	p.P89H	NDFIP1_ENST00000509436.1_Intron	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	89					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACTATCCCTTTGGTTCCT	0.423													False	0	True	5:141511891	0	A	141511891	C	A	141511891	3	1	88	1	0	0	0	0	1	0	0	0	10313	681	24	3	276	3	NDFIP1	5	141511891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127217	141511891	39403369	6473	14185											
NDFIP1	80762	broad.mit.edu	37	chr5	141524156	141524156	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttctcctgtttctcagaGgatttatcaattatgcaaaa	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141524156G>T	ENST00000253814.4	+	7	1053	c.583G>T	c.(583-585)Gga>Tga	p.G195*		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	195					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTCTCAGAGGATTTATCAA	0.343													False	0	False	5:141524156	0	T	141524156	G	T	141524156	4	4	88	1	0	0	0	0	0	1	0	0	10313	1001	35	3	609	3	NDFIP1	5	141524156	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12265	141524156	39391104	6474	14186											
NR3C1	2908	broad.mit.edu	37	chr5	142675037	142675037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaccaacctgaagagagaaGcagtaaggttttcatacaga	9	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:142675037G>T	ENST00000343796.2	-	7	3004	c.2011C>A	c.(2011-2013)Ctt>Att	p.L671I	NR3C1_ENST00000415690.2_Missense_Mutation_p.L671I|NR3C1_ENST00000231509.3_Missense_Mutation_p.L672I|NR3C1_ENST00000504572.1_Missense_Mutation_p.L672I|NR3C1_ENST00000424646.2_Missense_Mutation_p.L645I|NR3C1_ENST00000503201.1_Missense_Mutation_p.L671I|NR3C1_ENST00000394464.2_Missense_Mutation_p.L671I|NR3C1_ENST00000394466.2_Missense_Mutation_p.L672I|NR3C1_ENST00000416954.2_Missense_Mutation_p.L274I	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	671	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GAAGAGAGAAGCAGTAAGGTT	0.363													False	0	False	5:142675037	0	T	142675037	G	T	142675037	3	4	88	1	0	0	0	0	1	0	0	0	10698	971	34	3	386	3	NR3C1	5	142675037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1150881	142675037	38240223	6475	14187											
NR3C1	2908	broad.mit.edu	37	chr5	142693707	142693707	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgaggagctggatggaggaGagcttacatctggtctcatg	15	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:142693707G>T	ENST00000343796.2	-	3	2204	c.1211C>A	c.(1210-1212)tCt>tAt	p.S404Y	NR3C1_ENST00000415690.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000231509.3_Missense_Mutation_p.S404Y|NR3C1_ENST00000504572.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000424646.2_Missense_Mutation_p.S378Y|NR3C1_ENST00000503201.1_Missense_Mutation_p.S404Y|NR3C1_ENST00000394464.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000394466.2_Missense_Mutation_p.S404Y|NR3C1_ENST00000416954.2_Missense_Mutation_p.S7Y	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	404	Glu/Pro/Ser/Thr-rich (PEST region).|Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GGATGGAGGAGAGCTTACATC	0.448													False	0	False	5:142693707	0	T	142693707	G	T	142693707	3	4	88	1	0	0	0	0	1	0	0	0	10698	942	33	3	1205	3	NR3C1	5	142693707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18670	142693707	38221553	6476	14188											
SH3RF2	153769	broad.mit.edu	37	chr5	145393591	145393591	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgatcacccagcccatggaGaaagcagacgttccttccag	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145393591G>A	ENST00000511217.1	+	4	1078	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	SH3RF2_ENST00000359120.4_Silent_p.E342E			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	342							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCATGGAGAAAGCAGACG	0.552													False	0	True	5:145393591	0	A	145393591	G	A	145393591	2	1	88	1	0	0	0	0	0	0	0	1	14340	933	33	2		2	SH3RF2	5	145393591	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2699884	145393591	35521669	6477	14189											
LARS	51520	broad.mit.edu	37	chr5	145509704	145509704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccacagccaattcacgGtacttatcttttgcggccta	6	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145509704G>A	ENST00000394434.2	-	25	2671	c.2505C>T	c.(2503-2505)taC>taT	p.Y835Y	LARS_ENST00000545646.1_Silent_p.Y789Y|LARS_ENST00000510191.1_Silent_p.Y781Y|LARS_ENST00000274562.9_Silent_p.Y808Y	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	835					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCAATTCACGGTACTTATCTT	0.378													False	0	False	5:145509704	0	A	145509704	G	A	145509704	2	1	88	1	0	0	0	0	0	0	0	1	8685	1256	44	2		2	LARS	5	145509704	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116113	145509704	35405556	6478	14190											
RBM27	54439	broad.mit.edu	37	chr5	145651170	145651170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacatggtggtggaccatcGtcccaaagcactaacagttg	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145651170G>A	ENST00000265271.5	+	19	3087	c.2921G>A	c.(2920-2922)cGt>cAt	p.R974H	RBM27_ENST00000506502.1_Missense_Mutation_p.R919H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	974					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGACCATCGTCCCAAAGCA	0.468													False	0	False	5:145651170	0	A	145651170	G	A	145651170	3	1	88	1	0	0	0	0	1	0	0	0	13206	1145	40	1	2995	1	RBM27	5	145651170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141466	145651170	35264090	6479	14191											
POU4F3	5459	broad.mit.edu	37	chr5	145719317	145719317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctcacaccctcaccaCgccgtgcaccagggcctcga	7	21	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145719317C>T	ENST00000230732.4	+	2	416	c.327C>T	c.(325-327)caC>caT	p.H109H	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	109					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCTCACCACGCCGTGCACC	0.677													False	0	False	5:145719317	0	T	145719317	C	T	145719317	2	4	88	1	0	0	0	0	0	0	0	1	12349	535	19	1		1	POU4F3	5	145719317	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68147	145719317	35195943	6480	14192											
TCERG1	10915	broad.mit.edu	37	chr5	145838663	145838663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccaggcccaggcccagGcccaggcccaagcccaagcc	12	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145838663G>A	ENST00000296702.5	+	4	693	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	TCERG1_ENST00000394421.2_Missense_Mutation_p.A219T	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	219	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ccaggcccaggcccaggccca	0.726													False	0	True	5:145838663	0	A	145838663	G	A	145838663	3	1	88	1	0	0	0	0	1	0	0	0	15767	1203	42	2	669	2	TCERG1	5	145838663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119346	145838663	35076597	6481	14193											
TCERG1	10915	broad.mit.edu	37	chr5	145838887	145838887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaactgctacttcagttgcGcagacagtatcaagtgagta	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145838887G>A	ENST00000296702.5	+	4	917	c.879G>A	c.(877-879)gcG>gcA	p.A293A	TCERG1_ENST00000394421.2_Silent_p.A293A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	293	Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCAGTTGCGCAGACAGTAT	0.468													False	0	False	5:145838887	0	A	145838887	G	A	145838887	2	1	88	1	0	0	0	0	0	0	0	1	15767	1074	38	1		1	TCERG1	5	145838887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224	145838887	35076373	6482	14194											
TCERG1	10915	broad.mit.edu	37	chr5	145843122	145843122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttttatcagcacccacaAcacaagatcagaccccaagt	4	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145843122A>G	ENST00000296702.5	+	5	939	c.901A>G	c.(901-903)Aca>Gca	p.T301A	TCERG1_ENST00000394421.2_Missense_Mutation_p.T301A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	301	Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCACCCACAACACAAGATCA	0.388													False	0	True	5:145843122	0	G	145843122	A	G	145843122	3	3	88	1	0	0	0	0	1	0	0	0	15767	43	2	4	919	4	TCERG1	5	145843122	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4235	145843122	35072138	6483	14195											
TCERG1	10915	broad.mit.edu	37	chr5	145849225	145849225	+	Missense_Mutation	SNP	A	A	C													tctgaatggactgaatataaAacagcagatgggaagacata							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145849225A>C	ENST00000296702.5	+	7	1355	c.1317A>C	c.(1315-1317)aaA>aaC	p.K439N	TCERG1_ENST00000394421.2_Missense_Mutation_p.K418N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	439	WW 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAATATAAAACAGCAGATG	0.393													False	0	True	5:145849225	0	C	145849225	A	C	145849225	3	2	88	1	0	0	0	0	1	0	0	0	15767	11	1	4	1343	4	TCERG1	5	145849225	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6103	145849225	35066035	6484	14196	180	2									
TCERG1	10915	broad.mit.edu	37	chr5	145849232	145849232	+	Missense_Mutation	SNP	G	G	A													ggactgaatataaaacagcaGatgggaagacatattattat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145849232G>A	ENST00000296702.5	+	7	1362	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	TCERG1_ENST00000394421.2_Missense_Mutation_p.D421N	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	442	WW 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAACAGCAGATGGGAAGAC	0.383													False	0	False	5:145849232	0	A	145849232	G	A	145849232	3	1	88	1	0	0	0	0	1	0	0	0	15767	942	33	2	1350	2	TCERG1	5	145849232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	145849232	35066028	6485	14197	180	2									
TCERG1	10915	broad.mit.edu	37	chr5	145878172	145878172	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattgaaaagatgaaagacCgagaagccttgtttaatgag	10	5	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145878172C>T	ENST00000296702.5	+	16	2343	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R748*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	769	FF 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGAAAGACCGAGAAGCCTT	0.393													False	0	False	5:145878172	0	T	145878172	C	T	145878172	4	4	88	1	0	0	0	0	0	1	0	0	15767	644	23	1	2367	1	TCERG1	5	145878172	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28940	145878172	35037088	6486	14198											
GPR151	134391	broad.mit.edu	37	chr5	145895387	145895387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacacttttggagtacgccGtagctcggataggtgcagaa	12	8	0	1	rs145255868	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145895387G>A	ENST00000311104.2	-	1	366	c.290C>T	c.(289-291)aCg>aTg	p.T97M		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	97						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGTACGCCGTAGCTCGGAT	0.502													False	0	False	5:145895387	0	A	145895387	G	A	145895387	3	1	88	1	0	0	0	0	1	0	0	0	6703	1145	40	1	973	1	GPR151	5	145895387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17215	145895387	35019873	6487	14199											
STK32A	202374	broad.mit.edu	37	chr5	146703542	146703542	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcgttatcacctgcaacaGaacgtccacttcaaggaaga	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:146703542G>A	ENST00000397936.3	+	5	675	c.342G>A	c.(340-342)caG>caA	p.Q114Q	STK32A_ENST00000398521.3_Silent_p.Q114Q|STK32A_ENST00000541094.1_Silent_p.Q114Q|STK32A_ENST00000398523.3_Silent_p.Q114Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	114	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGCAACAGAACGTCCACT	0.498													False	0	False	5:146703542	0	A	146703542	G	A	146703542	2	1	88	1	0	0	0	0	0	0	0	1	15379	933	33	2		2	STK32A	5	146703542	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	808155	146703542	34211718	6488	14200											
JAKMIP2	9832	broad.mit.edu	37	chr5	146997591	146997591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcctcagctcctcttgCtgtttttcacttaataattc	5	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:146997591C>A	ENST00000265272.5	-	19	2696	c.2229G>T	c.(2227-2229)caG>caT	p.Q743H	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q701H|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.Q722H	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	743						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCTCTTGCTGTTTTTCAC	0.423													False	0	False	5:146997591	0	A	146997591	C	A	146997591	3	1	88	1	0	0	0	0	1	0	0	0	7991	796	28	3	215	3	JAKMIP2	5	146997591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294049	146997591	33917669	6489	14201											
JAKMIP2	9832	broad.mit.edu	37	chr5	147024484	147024484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaggacaccatcagttcatCgtttctcttggcgaggcact	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147024484C>T	ENST00000265272.5	-	6	1479	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D296N|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D338N	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	338						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAGTTCATCGTTTCTCTTG	0.433													False	0	False	5:147024484	0	T	147024484	C	T	147024484	3	4	88	1	0	0	0	0	1	0	0	0	7991	884	31	1	1484	1	JAKMIP2	5	147024484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26893	147024484	33890776	6490	14202											
JAKMIP2	9832	broad.mit.edu	37	chr5	147030054	147030054	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtacatagcctgtctgggtCtccagttccttttccaggga	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147030054C>T	ENST00000265272.5	-	4	1151	c.684G>A	c.(682-684)gaG>gaA	p.E228E	JAKMIP2_ENST00000333010.6_Silent_p.E186E|JAKMIP2_ENST00000507386.1_Silent_p.E228E	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	228						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCTGGGTCTCCAGTTCCT	0.443													False	0	False	5:147030054	0	T	147030054	C	T	147030054	2	4	88	1	0	0	0	0	0	0	0	1	7991	912	32	2		2	JAKMIP2	5	147030054	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5570	147030054	33885206	6491	14203											
JAKMIP2	9832	broad.mit.edu	37	chr5	147040937	147040937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagttctgtcaccagcacCgtgtgcttgcgctgctccag	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147040937C>T	ENST00000265272.5	-	3	668	c.201G>A	c.(199-201)acG>acA	p.T67T	JAKMIP2_ENST00000333010.6_Silent_p.T25T|JAKMIP2_ENST00000507386.1_Silent_p.T67T	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	67						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCAGCACCGTGTGCTTGC	0.493													False	0	False	5:147040937	0	T	147040937	C	T	147040937	2	4	88	1	0	0	0	0	0	0	0	1	7991	639	23	1		1	JAKMIP2	5	147040937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10883	147040937	33874323	6492	14204											
SPINK5	11005	broad.mit.edu	37	chr5	147486674	147486674	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggagcataatcctgtccgTggcccagatggcaaaatgca	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147486674T>C	ENST00000359874.3	+	17	1627	c.1554T>C	c.(1552-1554)cgT>cgC	p.R518R	SPINK5_ENST00000256084.7_Silent_p.R518R|SPINK5_ENST00000398454.1_Silent_p.R518R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	518	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTGTCCGTGGCCCAGATG	0.463													False	0	False	5:147486674	0	C	147486674	T	C	147486674	2	2	88	1	0	0	0	0	0	0	0	1	15144	1683	59	4		4	SPINK5	5	147486674	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	445737	147486674	33428586	6493	14205											
SPINK5	11005	broad.mit.edu	37	chr5	147488388	147488388	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgaaaaagttaagagAgaagcagttcaggtagttgt	14	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147488388A>G	ENST00000359874.3	+	18	1753	c.1680A>G	c.(1678-1680)agA>agG	p.R560R	SPINK5_ENST00000256084.7_Silent_p.R560R|SPINK5_ENST00000398454.1_Silent_p.R560R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	560					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			aagttaagagagaagcagTTC	0.398													False	0	True	5:147488388	0	G	147488388	A	G	147488388	2	3	88	1	0	0	0	0	0	0	0	1	15144	301	11	4		4	SPINK5	5	147488388	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1714	147488388	33426872	6494	14206											
SPINK5	11005	broad.mit.edu	37	chr5	147493998	147493998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagaaaatgatcctgtgcGtggcccagatggcaagaccc	12	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147493998G>A	ENST00000359874.3	+	21	2034	c.1961G>A	c.(1960-1962)cGt>cAt	p.R654H	SPINK5_ENST00000256084.7_Missense_Mutation_p.R654H|SPINK5_ENST00000398454.1_Missense_Mutation_p.R654H	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	654	Kazal-like 10.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCTGTGCGTGGCCCAGAT	0.453													False	0	False	5:147493998	0	A	147493998	G	A	147493998	3	1	88	1	0	0	0	0	1	0	0	0	15144	1145	40	1	2043	1	SPINK5	5	147493998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5610	147493998	33421262	6495	14207											
SPINK13	153218	broad.mit.edu	37	chr5	147649640	147649640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttatatgagatcaaatggCtgcctttccccacaagatta	6	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147649640C>A	ENST00000512953.1	+	3	536	c.5C>A	c.(4-6)gCt>gAt	p.A2D	RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000511106.1_5'UTR|SPINK13_ENST00000398450.4_Missense_Mutation_p.A2D			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	2						extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						GATCAAATGGCTGCCTTTCCC	0.408													False	0	False	5:147649640	0	A	147649640	C	A	147649640	3	1	88	1	0	0	0	0	1	0	0	0	15140	797	28	3	7	3	SPINK13	5	147649640	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155642	147649640	33265620	6496	14208											
FBXO38	81545	broad.mit.edu	37	chr5	147781654	147781654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagagtaaggggccatgaGgcttttagcattccaggagt	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147781654G>A	ENST00000340253.5	+	4	540	c.372G>A	c.(370-372)gaG>gaA	p.E124E	FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Silent_p.E124E|FBXO38_ENST00000394370.3_Silent_p.E124E|FBXO38_ENST00000296701.6_Silent_p.E124E			Q6PIJ6	FBX38_HUMAN	F-box protein 38	124						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCCATGAGGCTTTTAGCA	0.448													False	0	False	5:147781654	0	A	147781654	G	A	147781654	2	1	88	1	0	0	0	0	0	0	0	1	5786	991	35	2		2	FBXO38	5	147781654	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132014	147781654	33133606	6497	14209											
FBXO38	81545	broad.mit.edu	37	chr5	147807242	147807242	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtgttctgatgaggaAcgtccttcaaccagccgagc	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147807242A>G	ENST00000340253.5	+	15	2553	c.2385A>G	c.(2383-2385)gaA>gaG	p.E795E	FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000394370.3_Silent_p.E795E|FBXO38_ENST00000296701.6_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	795						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATGAGGAACGTCCTTCAA	0.572													False	0	False	5:147807242	0	G	147807242	A	G	147807242	2	3	88	1	0	0	0	0	0	0	0	1	5786	40	2	4		4	FBXO38	5	147807242	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25588	147807242	33108018	6498	14210											
FBXO38	81545	broad.mit.edu	37	chr5	147820025	147820025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attcttccctgaagccactcGaagtgaagaagacttaaaga	8	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147820025G>A	ENST00000340253.5	+	20	3377	c.3209G>A	c.(3208-3210)cGa>cAa	p.R1070Q	FBXO38_ENST00000513826.1_Missense_Mutation_p.R825Q|FBXO38_ENST00000394370.3_Missense_Mutation_p.R995Q|FBXO38_ENST00000296701.6_Missense_Mutation_p.R825Q			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1070						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCACTCGAAGTGAAGAA	0.353													False	0	False	5:147820025	0	A	147820025	G	A	147820025	3	1	88	1	0	0	0	0	1	0	0	0	5786	1058	37	1	3283	1	FBXO38	5	147820025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12783	147820025	33095235	6499	14211											
HTR4	3360	broad.mit.edu	37	chr5	147845485	147845485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctggagacaggggaacaGccacttttagttgaaacaga	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147845485G>A	ENST00000314512.6	-	7	1243	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	HTR4_ENST00000521735.1_Silent_p.G360G|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron	NM_199453.3	NP_955525.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CAGGGGAACAGCCACTTTTAG	0.428													False	0	False	5:147845485	0	A	147845485	G	A	147845485	2	1	88	1	0	0	0	0	0	0	0	1	7499	958	34	2		2	HTR4	5	147845485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25460	147845485	33069775	6500	14212											
HTR4	3360	broad.mit.edu	37	chr5	147863911	147863911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctttgtccaataccttgCtaaaatgtctctgtcaaaca	6	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147863911C>T	ENST00000360693.3	-	7	1246	c.1108G>A	c.(1108-1110)Gca>Aca	p.A370T	HTR4_ENST00000521735.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000377888.3_Intron	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CAATACCTTGCTAAAATGTCT	0.393													False	0	False	5:147863911	0	T	147863911	C	T	147863911	3	4	88	1	0	0	0	0	1	0	0	0	7499	797	28	2	354	2	HTR4	5	147863911	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18426	147863911	33051349	6501	14213											
HTR4	3360	broad.mit.edu	37	chr5	147929756	147929756	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaggttccccaagatggcCatcaggataaccgtcgagag	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147929756C>A	ENST00000360693.3	-	3	234	c.96G>T	c.(94-96)atG>atT	p.M32I	HTR4_ENST00000521735.1_Missense_Mutation_p.M32I|HTR4_ENST00000521530.1_Missense_Mutation_p.M32I|HTR4_ENST00000520514.1_Missense_Mutation_p.M32I|HTR4_ENST00000314512.6_Missense_Mutation_p.M32I|HTR4_ENST00000354217.2_Missense_Mutation_p.M32I|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000362016.2_Missense_Mutation_p.M32I|HTR4_ENST00000517929.1_Missense_Mutation_p.M32I|HTR4_ENST00000377888.3_Missense_Mutation_p.M32I	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	32					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CCAAGATGGCCATCAGGATAA	0.537													False	0	False	5:147929756	0	A	147929756	C	A	147929756	3	1	88	1	0	0	0	0	1	0	0	0	7499	594	21	3	1386	3	HTR4	5	147929756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65845	147929756	32985504	6502	14214											
SH3TC2	79628	broad.mit.edu	37	chr5	148406207	148406207	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccatctcccggtccctgAgttgctgagccagggccagc	11	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148406207A>C	ENST00000538184.1	-	8	2510	c.1622T>G	c.(1621-1623)cTc>cGc	p.L541R	SH3TC2_ENST00000512049.1_Missense_Mutation_p.L987R|SH3TC2_ENST00000515425.1_Missense_Mutation_p.L994R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.S915A			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	994							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGTCCCTGAGTTGCTGAGC	0.582													False	0	False	5:148406207	0	C	148406207	A	C	148406207	3	2	88	1	0	0	0	0	1	0	0	0	14343	304	11	4	909	4	SH3TC2	5	148406207	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	476451	148406207	32509053	6503	14215											
SH3TC2	79628	broad.mit.edu	37	chr5	148422323	148422323	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctacagacacttggatctCtgtatcctccaccaatatgc	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148422323C>T	ENST00000515425.1	-	5	564	c.463G>A	c.(463-465)Gag>Aag	p.E155K	SH3TC2_ENST00000512049.1_Missense_Mutation_p.E148K|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E40K	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	155							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGGATCTCTGTATCCTCC	0.448													False	0	False	5:148422323	0	T	148422323	C	T	148422323	3	4	88	1	0	0	0	0	1	0	0	0	14343	922	32	2	3455	2	SH3TC2	5	148422323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16116	148422323	32492937	6504	14216											
ABLIM3	22885	broad.mit.edu	37	chr5	148619346	148619346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacgagaacctggacctcCggcagagacgggcctccagc	12	15	1	2	rs150488528	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148619346C>T	ENST00000506113.1	+	12	1581	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W|ABLIM3_ENST00000519549.1_3'UTR|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	367					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCTCCGGCAGAGACG	0.642													False	0	False	5:148619346	0	T	148619346	C	T	148619346	3	4	88	1	0	0	0	0	1	0	0	0	96	643	23	1	1145	1	ABLIM3	5	148619346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197023	148619346	32295914	6505	14217											
ABLIM3	22885	broad.mit.edu	37	chr5	148627370	148627370	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaattggccggctgaTtctgaaggaagaaatgaagg	15	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148627370T>G	ENST00000506113.1	+	17	2059	c.1577T>G	c.(1576-1578)aTt>aGt	p.I526S	AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.I526S|ABLIM3_ENST00000504238.1_Missense_Mutation_p.I415S|ABLIM3_ENST00000326685.7_Missense_Mutation_p.I431S|ABLIM3_ENST00000517451.1_Missense_Mutation_p.I12S|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.I415S|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.I493S			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	526					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCGGCTGATTCTGAAGGAA	0.577													False	0	False	5:148627370	0	G	148627370	T	G	148627370	3	3	88	1	0	0	0	0	1	0	0	0	96	1493	52	4	1643	4	ABLIM3	5	148627370	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8024	148627370	32287890	6506	14218											
ABLIM3	22885	broad.mit.edu	37	chr5	148637959	148637959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgaagaagcaagcccggCtgttctaggcagaggctcta	12	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148637959C>T	ENST00000506113.1	+	23	2526	c.2044C>T	c.(2044-2046)Ctg>Ttg	p.L682L	AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Silent_p.L682L|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000326685.7_Silent_p.L587L|ABLIM3_ENST00000517451.1_Silent_p.L168L|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Silent_p.L649L			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	682	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGCCCGGCTGTTCTAGGC	0.438													False	0	False	5:148637959	0	T	148637959	C	T	148637959	2	4	88	1	0	0	0	0	0	0	0	1	96	796	28	2		2	ABLIM3	5	148637959	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10589	148637959	32277301	6507	14219											
AFAP1L1	134265	broad.mit.edu	37	chr5	148679100	148679100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgctcccagagctcacCgggctgctcagcctcctgga	11	17	2	1	rs116579139	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148679100C>T	ENST00000296721.4	+	2	143	c.45C>T	c.(43-45)acC>acT	p.T15T	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Silent_p.T15T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	15							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGCTCACCGGGCTGCTCA	0.652													False	0	True	5:148679100	0	T	148679100	C	T	148679100	2	4	88	1	0	0	0	0	0	0	0	1	354	639	23	1		1	AFAP1L1	5	148679100	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41141	148679100	32236160	6508	14220											
AFAP1L1	134265	broad.mit.edu	37	chr5	148687146	148687146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggcagtgggccaagcaGctgacggtcatcagggagga	17	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148687146G>A	ENST00000296721.4	+	7	815	c.717G>A	c.(715-717)caG>caA	p.Q239Q	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Silent_p.Q239Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	239	PH 1.						protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCAAGCAGCTGACGGTCA	0.592													False	0	False	5:148687146	0	A	148687146	G	A	148687146	2	1	88	1	0	0	0	0	0	0	0	1	354	962	34	2		2	AFAP1L1	5	148687146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8046	148687146	32228114	6509	14221											
PCYOX1L	78991	broad.mit.edu	37	chr5	148742307	148742307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagggaaccgtgggtggcCgcttggccaccatctcagtc	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148742307C>T	ENST00000274569.4	+	2	258	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	PCYOX1L_ENST00000514349.1_5'UTR	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	66					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGTGGCCGCTTGGCCAC	0.612													False	0	False	5:148742307	0	T	148742307	C	T	148742307	3	4	88	1	0	0	0	0	1	0	0	0	11677	652	23	1	202	1	PCYOX1L	5	148742307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55161	148742307	32172953	6510	14222											
PCYOX1L	78991	broad.mit.edu	37	chr5	148747604	148747604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagaatgaggtaggcaacaGctctgacttctatgacatcg	11	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148747604G>T	ENST00000514349.1	+	5	1181	c.602G>T	c.(601-603)aGc>aTc	p.S201I	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.S291I			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	291					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGCAACAGCTCTGACTTC	0.527											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	5:148747604	0	T	148747604	G	T	148747604	3	4	88	1	0	0	0	0	1	0	0	0	11677	971	34	3	894	3	PCYOX1L	5	148747604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5297	148747604	32167656	6511	14223											
ARHGEF37	389337	broad.mit.edu	37	chr5	148996246	148996246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagtccctgatgccagtgCctatcctgtccttcagaggg	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148996246C>T	ENST00000333677.6	+	5	738	c.575C>T	c.(574-576)gCc>gTc	p.A192V		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	192	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GATGCCAGTGCCTATCCTGTC	0.522													False	0	False	5:148996246	0	T	148996246	C	T	148996246	3	4	88	1	0	0	0	0	1	0	0	0	908	739	26	2	589	2	ARHGEF37	5	148996246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248642	148996246	31919014	6512	14224											
ARHGEF37	389337	broad.mit.edu	37	chr5	148998539	148998539	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgatttagaagagaggttCcagtgggtgtctctgtgtgt	15	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148998539C>T	ENST00000333677.6	+	7	991	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	276	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AAGAGAGGTTCCAGTGGGTGT	0.493											OREG0016919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	5:148998539	0	T	148998539	C	T	148998539	2	4	88	1	0	0	0	0	0	0	0	1	908	854	30	2		2	ARHGEF37	5	148998539	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2293	148998539	31916721	6513	14225											
ARHGEF37	389337	broad.mit.edu	37	chr5	148999941	148999941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctctacttcaggccgcacGaatacaatctggacatcccc	6	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148999941G>A	ENST00000333677.6	+	8	1082	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	307	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CAGGCCGCACGAATACAATCT	0.512													False	0	False	5:148999941	0	A	148999941	G	A	148999941	3	1	88	1	0	0	0	0	1	0	0	0	908	1059	37	1	945	1	ARHGEF37	5	148999941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1402	148999941	31915319	6514	14226											
ARHGEF37	389337	broad.mit.edu	37	chr5	149006811	149006811	+	Missense_Mutation	SNP	G	G	A													ggacaccaaaggcaacagcgGccgctggctggtggacaccg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149006811G>A	ENST00000333677.6	+	11	1800	c.1637G>A	c.(1636-1638)gGc>gAc	p.G546D		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	546	SH3 1.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGCAACAGCGGCCGCTGGCTG	0.612													False	0	False	5:149006811	0	A	149006811	G	A	149006811	3	1	88	1	0	0	0	0	1	0	0	0	908	1203	42	2	1675	2	ARHGEF37	5	149006811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6870	149006811	31908449	6515	14227	181	2									
ARHGEF37	389337	broad.mit.edu	37	chr5	149006812	149006812	+	Silent	SNP	C	C	A													gacaccaaaggcaacagcggCcgctggctggtggacaccgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149006812C>A	ENST00000333677.6	+	11	1801	c.1638C>A	c.(1636-1638)ggC>ggA	p.G546G		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	546	SH3 1.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GCAACAGCGGCCGCTGGCTGG	0.607													False	0	False	5:149006812	0	A	149006812	C	A	149006812	2	1	88	1	0	0	0	0	0	0	0	1	908	726	26	3		3	ARHGEF37	5	149006812	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	149006812	31908448	6516	14228	181	2									
PPARGC1B	133522	broad.mit.edu	37	chr5	149210396	149210396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccagaaggaagggaccGcctggcgccaggcaggcctc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149210396G>A	ENST00000309241.5	+	4	564	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	PPARGC1B_ENST00000403750.1_Intron|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A178T|PPARGC1B_ENST00000360453.4_Intron	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	178					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAAGGGACCGCCTGGCGCCA	0.577													False	0	False	5:149210396	0	A	149210396	G	A	149210396	3	1	88	1	0	0	0	0	1	0	0	0	12370	1087	38	1	553	1	PPARGC1B	5	149210396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203584	149210396	31704864	6517	14229											
PPARGC1B	133522	broad.mit.edu	37	chr5	149212986	149212986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaagaggaggaggaggaGtggggcaggaaaaggccagg	21	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149212986G>A	ENST00000309241.5	+	5	1382	c.1350G>A	c.(1348-1350)gaG>gaA	p.E450E	PPARGC1B_ENST00000403750.1_Silent_p.E386E|PPARGC1B_ENST00000394320.3_Silent_p.E450E|PPARGC1B_ENST00000360453.4_Silent_p.E411E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	450	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaggaggagTGGGGCAGGA	0.622													False	0	True	5:149212986	0	A	149212986	G	A	149212986	2	1	88	1	0	0	0	0	0	0	0	1	12370	1020	36	2		2	PPARGC1B	5	149212986	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2590	149212986	31702274	6518	14230											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216066	149216066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaggctggccagaagcGtcccttctcctgttcctttg	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216066G>A	ENST00000309241.5	+	8	2080	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R619H|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R683H|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R644H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	683					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCCAGAAGCGTCCCTTCTCC	0.627													False	0	False	5:149216066	0	A	149216066	G	A	149216066	3	1	88	1	0	0	0	0	1	0	0	0	12370	1145	40	1	2085	1	PPARGC1B	5	149216066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3080	149216066	31699194	6519	14231											
PPARGC1B	133522	broad.mit.edu	37	chr5	149216334	149216334	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaacactttgggctgctggaGaccgccctggaggaggaaga	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216334G>A	ENST00000309241.5	+	8	2348	c.2316G>A	c.(2314-2316)gaG>gaA	p.E772E	PPARGC1B_ENST00000403750.1_Silent_p.E708E|PPARGC1B_ENST00000394320.3_Silent_p.E772E|PPARGC1B_ENST00000360453.4_Silent_p.E733E	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	772	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCTGCTGGAGACCGCCCTGG	0.602													False	0	False	5:149216334	0	A	149216334	G	A	149216334	2	1	88	1	0	0	0	0	0	0	0	1	12370	933	33	2		2	PPARGC1B	5	149216334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268	149216334	31698926	6520	14232											
PDE6A	5145	broad.mit.edu	37	chr5	149310693	149310693	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgtcgttcgatgtccgtAagttcttcaaagactttgct	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149310693A>C	ENST00000255266.5	-	4	875	c.756T>G	c.(754-756)ctT>ctG	p.L252L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	252					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGATGTCCGTAAGTTCTTCAA	0.443													False	0	False	5:149310693	0	C	149310693	A	C	149310693	2	2	88	1	0	0	0	0	0	0	0	1	11713	349	13	4		4	PDE6A	5	149310693	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	94359	149310693	31604567	6521	14233											
TIGD6	81789	broad.mit.edu	37	chr5	149374485	149374485	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaaaggaactgtctaAgtttctgtacacttgatatg	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149374485A>C	ENST00000296736.3	-	2	2201	c.1427T>G	c.(1426-1428)cTt>cGt	p.L476R	TIGD6_ENST00000515406.2_Missense_Mutation_p.L476R	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	476					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAACTGTCTAAGTTTCTGTAC	0.388													False	0	False	5:149374485	0	C	149374485	A	C	149374485	3	2	88	1	0	0	0	0	1	0	0	0	15982	72	3	4	142	4	TIGD6	5	149374485	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63792	149374485	31540775	6522	14234											
CSF1R	1436	broad.mit.edu	37	chr5	149439327	149439327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccctcggggtcctggcCggggctcaggctgggtccca	16	16	1	0	rs141866247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149439327C>T	ENST00000286301.3	-	15	2359	c.2068G>A	c.(2068-2070)Ggc>Agc	p.G690S		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	690	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGTCCTGGCCGGGGCTCAGG	0.582													False	0	True	5:149439327	0	T	149439327	C	T	149439327	3	4	88	1	0	0	0	0	1	0	0	0	3957	652	23	1	882	1	CSF1R	5	149439327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64842	149439327	31475933	6523	14235											
PDGFRB	5159	broad.mit.edu	37	chr5	149495413	149495413	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctggctccggctccacctgGagctcaagctggggctctgg	14	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149495413G>T	ENST00000261799.4	-	23	3703	c.3234C>A	c.(3232-3234)ctC>ctA	p.L1078L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1078					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCCACCTGGAGCTCAAGCT	0.642			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								False	0	False	5:149495413	0	T	149495413	G	T	149495413	2	4	88	1	0	0	0	0	0	0	0	1	11730	1161	41	3		3	PDGFRB	5	149495413	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56086	149495413	31419847	6524	14236											
PDGFRB	5159	broad.mit.edu	37	chr5	149500528	149500528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagatcttgaccagcttgcCttcacagatgagcacgttcc	8	13	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149500528C>A	ENST00000261799.4	-	18	2978	c.2509G>T	c.(2509-2511)Ggc>Tgc	p.G837C		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	837	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGCTTGCCTTCACAGATG	0.582			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								False	0	False	5:149500528	0	A	149500528	C	A	149500528	3	1	88	1	0	0	0	0	1	0	0	0	11730	681	24	3	835	3	PDGFRB	5	149500528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5115	149500528	31414732	6525	14237											
PDGFRB	5159	broad.mit.edu	37	chr5	149512485	149512485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgtgcccacctctcccaGgagccgcacgtagccgctct	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149512485G>A	ENST00000261799.4	-	7	1424	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	319					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCTCTCCCAGGAGCCGCACG	0.647			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								False	0	False	5:149512485	0	A	149512485	G	A	149512485	2	1	88	1	0	0	0	0	0	0	0	1	11730	991	35	2		2	PDGFRB	5	149512485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11957	149512485	31402775	6526	14238											
ARSI	340075	broad.mit.edu	37	chr5	149677669	149677669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaggtgatgttgcgcacaGcctcatccatgcaggtcacc	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149677669G>T	ENST00000328668.7	-	2	1397	c.818C>A	c.(817-819)gCt>gAt	p.A273D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	273						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCGCACAGCCTCATCCAT	0.597													False	0	False	5:149677669	0	T	149677669	G	T	149677669	3	4	88	1	0	0	0	0	1	0	0	0	998	971	34	3	895	3	ARSI	5	149677669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165184	149677669	31237591	6527	14239											
TCOF1	6949	broad.mit.edu	37	chr5	149771736	149771736	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaagtcagcccacacgCtgggtgagggtgccagggga	18	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149771736C>T	ENST00000451292.1	+	22	3733	c.3625C>T	c.(3625-3627)Ctg>Ttg	p.L1209L	TCOF1_ENST00000504761.2_Silent_p.L1172L|TCOF1_ENST00000439160.2_Silent_p.L1134L|TCOF1_ENST00000445265.2_Silent_p.L1095L|TCOF1_ENST00000323668.7_Silent_p.L1095L|TCOF1_ENST00000377797.3_Silent_p.L1172L|TCOF1_ENST00000513346.1_Silent_p.L1171L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1172					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCACACGCTGGGTGAGGG	0.612													False	0	False	5:149771736	0	T	149771736	C	T	149771736	2	4	88	1	0	0	0	0	0	0	0	1	15790	796	28	2		2	TCOF1	5	149771736	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94067	149771736	31143524	6528	14240											
CD74	972	broad.mit.edu	37	chr5	149786471	149786471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggctcccatgggcagCgcctgcatcagcagcggggt	17	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149786471C>T	ENST00000353334.6	-	3	530	c.351G>A	c.(349-351)gcG>gcA	p.A117A	CD74_ENST00000377795.3_Silent_p.A117A|CD74_ENST00000524315.1_Silent_p.A117A|CD74_ENST00000009530.7_Silent_p.A117A	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	117	CLIP.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATGGGCAGCGCCTGCATCA	0.682			T	ROS1	NSCLC								False	0	False	5:149786471	0	T	149786471	C	T	149786471	2	4	88	1	0	0	0	0	0	0	0	1	3058	755	27	1		1	CD74	5	149786471	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14735	149786471	31128789	6529	14241											
NDST1	3340	broad.mit.edu	37	chr5	149927843	149927843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgaggtgattaccgccGgctctgacgcatcctcgaag	11	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149927843G>A	ENST00000261797.6	+	12	2711	c.2209G>A	c.(2209-2211)Ggc>Agc	p.G737S	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	737	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATTACCGCCGGCTCTGACGC	0.622													False	0	False	5:149927843	0	A	149927843	G	A	149927843	3	1	88	1	0	0	0	0	1	0	0	0	10323	1116	39	1	2251	1	NDST1	5	149927843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141372	149927843	30987417	6530	14242											
NDST1	3340	broad.mit.edu	37	chr5	149929267	149929267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttggatggcaaactgcttCgcacagaacctgccaaagtg	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149929267C>T	ENST00000261797.6	+	13	2846	c.2344C>T	c.(2344-2346)Cgc>Tgc	p.R782C	NDST1_ENST00000523767.1_Missense_Mutation_p.R725C	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	782	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAACTGCTTCGCACAGAACC	0.532													False	0	False	5:149929267	0	T	149929267	C	T	149929267	3	4	88	1	0	0	0	0	1	0	0	0	10323	884	31	1	2390	1	NDST1	5	149929267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1424	149929267	30985993	6531	14243											
SYNPO	11346	broad.mit.edu	37	chr5	150027809	150027809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcaccccagtccccagaGccccgacagaggggtccctg	12	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150027809G>A	ENST00000394243.1	+	3	1078	c.704G>A	c.(703-705)aGc>aAc	p.S235N	SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.S235N|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000518872.1_Intron	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	235					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCCCCAGAGCCCCGACAGA	0.667													False	0	True	5:150027809	0	A	150027809	G	A	150027809	3	1	88	1	0	0	0	0	1	0	0	0	15538	971	34	2	710	2	SYNPO	5	150027809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98542	150027809	30887451	6532	14244											
SYNPO	11346	broad.mit.edu	37	chr5	150027836	150027836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaggggtccctggccacaGcatggaggggtactcagagg	17	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150027836G>T	ENST00000394243.1	+	3	1105	c.731G>T	c.(730-732)aGc>aTc	p.S244I	SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.S244I|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000518872.1_Intron	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	244					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGCCACAGCATGGAGGGG	0.637													False	0	False	5:150027836	0	T	150027836	G	T	150027836	3	4	88	1	0	0	0	0	1	0	0	0	15538	971	34	3	737	3	SYNPO	5	150027836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	150027836	30887424	6533	14245											
SYNPO	11346	broad.mit.edu	37	chr5	150028766	150028766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccggcctcagagagacGccccttggggaacttcactg	12	14	2	2	rs35729008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150028766G>A	ENST00000394243.1	+	3	2035	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	SYNPO_ENST00000519664.1_Missense_Mutation_p.R310H|SYNPO_ENST00000522122.1_Missense_Mutation_p.R554H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R310H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	554					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAGAGACGCCCCTTGGGG	0.617													False	0	True	5:150028766	0	A	150028766	G	A	150028766	3	1	88	1	0	0	0	0	1	0	0	0	15538	1087	38	1	1667	1	SYNPO	5	150028766	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	930	150028766	30886494	6534	14246											
MYOZ3	91977	broad.mit.edu	37	chr5	150052037	150052037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccgaagtcacacccccaGccccaacgactaccgaaatt	7	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150052037G>T	ENST00000297130.4	+	6	759	c.560G>T	c.(559-561)aGc>aTc	p.S187I	MYOZ3_ENST00000517768.1_Missense_Mutation_p.S187I|MYOZ3_ENST00000520112.1_Missense_Mutation_p.Q103H	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	187	Binding to ACTN2.					sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACACCCCCAGCCCCAACGAC	0.642													False	0	True	5:150052037	0	T	150052037	G	T	150052037	3	4	88	1	0	0	0	0	1	0	0	0	10164	971	34	3	578	3	MYOZ3	5	150052037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23271	150052037	30863223	6535	14247											
MYOZ3	91977	broad.mit.edu	37	chr5	150056304	150056304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggacccctcgtgggggGcacttttcccaggccaggca	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150056304G>A	ENST00000297130.4	+	7	822	c.623G>A	c.(622-624)gGc>gAc	p.G208D	MYOZ3_ENST00000517768.1_Missense_Mutation_p.G208D|MYOZ3_ENST00000520112.1_Silent_p.G124G|MYOZ3_ENST00000456566.2_3'UTR	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	208						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGTGGGGGGCACTTTTCCC	0.627													False	0	True	5:150056304	0	A	150056304	G	A	150056304	3	1	88	1	0	0	0	0	1	0	0	0	10164	1203	42	2	645	2	MYOZ3	5	150056304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4267	150056304	30858956	6536	14248											
RBM22	55696	broad.mit.edu	37	chr5	150071373	150071373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagggtcctgagaaggataGtggattggtcctggagcccg	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150071373G>A	ENST00000199814.4	-	11	1324	c.1203C>T	c.(1201-1203)caC>caT	p.H401H	RBM22_ENST00000447771.2_Silent_p.H352H|RBM22_ENST00000540000.1_Silent_p.H352H	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	401	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGAAGGATAGTGGATTGGTC	0.552													False	0	False	5:150071373	0	A	150071373	G	A	150071373	2	1	88	1	0	0	0	0	0	0	0	1	13201	1020	36	2		2	RBM22	5	150071373	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15069	150071373	30843887	6537	14249											
RBM22	55696	broad.mit.edu	37	chr5	150076139	150076139	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttacactctcctttcacccaGaaggagcaaatgtggggtcg	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150076139G>A	ENST00000199814.4	-	6	622	c.501C>T	c.(499-501)ttC>ttT	p.F167F	RBM22_ENST00000447771.2_Silent_p.F118F|RBM22_ENST00000540000.1_Silent_p.F118F	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	167					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTCACCCAGAAGGAGCAAA	0.483													False	0	False	5:150076139	0	A	150076139	G	A	150076139	2	1	88	1	0	0	0	0	0	0	0	1	13201	933	33	2		2	RBM22	5	150076139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4766	150076139	30839121	6538	14250											
RBM22	55696	broad.mit.edu	37	chr5	150078092	150078092	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctaagaggcaggtctgacaGacattcttcaatttactgca	8	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150078092G>A	ENST00000199814.4	-	4	361	c.240C>T	c.(238-240)gtC>gtT	p.V80V	RBM22_ENST00000447771.2_Intron|RBM22_ENST00000540000.1_Intron	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	80					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTCTGACAGACATTCTTCA	0.463													False	0	True	5:150078092	0	A	150078092	G	A	150078092	2	1	88	1	0	0	0	0	0	0	0	1	13201	929	33	2		2	RBM22	5	150078092	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1953	150078092	30837168	6539	14251											
DCTN4	51164	broad.mit.edu	37	chr5	150097898	150097898	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactcgaagagagtcacatgGgtgaggttctcaactggatt	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150097898G>T	ENST00000447998.2	-	11	1126	c.1011C>A	c.(1009-1011)acC>acA	p.T337T	DCTN4_ENST00000424236.1_Silent_p.T280T|DCTN4_ENST00000446090.2_Silent_p.T344T	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	337						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCACATGGGTGAGGTTCT	0.502													False	0	True	5:150097898	0	T	150097898	G	T	150097898	2	4	88	1	0	0	0	0	0	0	0	1	4334	1219	43	3		3	DCTN4	5	150097898	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19806	150097898	30817362	6540	14252											
ZNF300	91975	broad.mit.edu	37	chr5	150276091	150276091	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatcatcaaaaggtattactCcattgtgaatcttctcaaga	5	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150276091C>A	ENST00000446148.2	-	7	1185	c.758G>T	c.(757-759)gGa>gTa	p.G253V	ZNF300_ENST00000394226.2_Missense_Mutation_p.G237V|ZNF300_ENST00000274599.5_Missense_Mutation_p.G237V|ZNF300_ENST00000418587.2_Missense_Mutation_p.G201V|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	237				T -> I (in Ref. 7; CAI46270).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTATTACTCCATTGTGAAT	0.343													False	0	False	5:150276091	0	A	150276091	C	A	150276091	3	1	88	1	0	0	0	0	1	0	0	0	17914	855	30	3	1108	3	ZNF300	5	150276091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178193	150276091	30639169	6541	14253											
ZNF300	91975	broad.mit.edu	37	chr5	150277639	150277639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccttgtctcccatctgCctgatattcatctggataga	6	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150277639C>T	ENST00000427179.1	-	5	476	c.250G>A	c.(250-252)Gca>Aca	p.A84T	ZNF300_ENST00000394226.2_Missense_Mutation_p.A84T|ZNF300_ENST00000274599.5_Missense_Mutation_p.A84T|ZNF300_ENST00000446148.2_Missense_Mutation_p.A100T|ZNF300_ENST00000418587.2_Missense_Mutation_p.A48T			Q96RE9	ZN300_HUMAN	zinc finger protein 300	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCCATCTGCCTGATATTCA	0.363													False	0	False	5:150277639	0	T	150277639	C	T	150277639	3	4	88	1	0	0	0	0	1	0	0	0	17914	739	26	2	1572	2	ZNF300	5	150277639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1548	150277639	30637621	6542	14254											
ANXA6	309	broad.mit.edu	37	chr5	150497386	150497386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctcagagcatcctccaggGacttgtgatagtctgaggca	12	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150497386G>A	ENST00000354546.5	-	19	1678	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	ANXA6_ENST00000521512.1_Missense_Mutation_p.S277F|ANXA6_ENST00000356496.5_Missense_Mutation_p.S484F|ANXA6_ENST00000377751.5_Missense_Mutation_p.S141F|ANXA6_ENST00000523714.1_Missense_Mutation_p.S452F	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	484						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCTCCAGGGACTTGTGATA	0.577													False	0	True	5:150497386	0	A	150497386	G	A	150497386	3	1	88	1	0	0	0	0	1	0	0	0	722	1174	41	2	602	2	ANXA6	5	150497386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219747	150497386	30417874	6543	14255											
ANXA6	309	broad.mit.edu	37	chr5	150498908	150498908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatttcagcattggtccgaGtggccaggatttcaataaga	12	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150498908G>A	ENST00000354546.5	-	18	1618	c.1391C>T	c.(1390-1392)aCt>aTt	p.T464I	ANXA6_ENST00000521512.1_Missense_Mutation_p.T257I|ANXA6_ENST00000356496.5_Missense_Mutation_p.T464I|ANXA6_ENST00000377751.5_Missense_Mutation_p.T121I|ANXA6_ENST00000523714.1_Missense_Mutation_p.T432I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	464						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTGGTCCGAGTGGCCAGGAT	0.552													False	0	False	5:150498908	0	A	150498908	G	A	150498908	3	1	88	1	0	0	0	0	1	0	0	0	722	1029	36	2	666	2	ANXA6	5	150498908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1522	150498908	30416352	6544	14256											
CCDC69	26112	broad.mit.edu	37	chr5	150581210	150581210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttatatccttctggtgcCgctcagcctcctctgatgca	9	13	3	1	rs140977954	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150581210C>T	ENST00000355417.2	-	3	338	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	55										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCTGGTGCCGCTCAGCCTC	0.448													False	0	False	5:150581210	0	T	150581210	C	T	150581210	3	4	88	1	0	0	0	0	1	0	0	0	2862	652	23	1	754	1	CCDC69	5	150581210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82302	150581210	30334050	6545	14257											
SLC36A3	285641	broad.mit.edu	37	chr5	150664259	150664259	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcaagggtaggttgctgGgatatggaatcccctaaaag	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150664259G>T	ENST00000335230.3	-	7	1133	c.722C>A	c.(721-723)cCc>cAc	p.P241H	SLC36A3_ENST00000377713.3_Missense_Mutation_p.P282H	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	241						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGGTTGCTGGGATATGGAAT	0.473													False	0	True	5:150664259	0	T	150664259	G	T	150664259	3	4	88	1	0	0	0	0	1	0	0	0	14675	1232	43	3	706	3	SLC36A3	5	150664259	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83049	150664259	30251001	6546	14258											
SLC36A3	285641	broad.mit.edu	37	chr5	150672988	150672988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaaggccgtacatcgtgGcctctccatagttcacaaaa	7	12	3	0	rs150561602	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150672988G>A	ENST00000335230.3	-	4	752	c.341C>T	c.(340-342)gCc>gTc	p.A114V	SLC36A3_ENST00000377713.3_Missense_Mutation_p.A114V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	114						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACATCGTGGCCTCTCCATA	0.438													False	0	False	5:150672988	0	A	150672988	G	A	150672988	3	1	88	1	0	0	0	0	1	0	0	0	14675	1203	42	2	1226	2	SLC36A3	5	150672988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8729	150672988	30242272	6547	14259											
SLC36A1	206358	broad.mit.edu	37	chr5	150853243	150853243	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtctttcagaggatcccaGaccccagccacctccccttg	7	18	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150853243G>T	ENST00000243389.3	+	8	956	c.733G>T	c.(733-735)Gac>Tac	p.D245Y	SLC36A1_ENST00000521925.1_Missense_Mutation_p.D245Y|SLC36A1_ENST00000520701.1_Missense_Mutation_p.D245Y	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	245					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GAGGATCCCAGACCCCAGCCA	0.458													False	0	False	5:150853243	0	T	150853243	G	T	150853243	3	4	88	1	0	0	0	0	1	0	0	0	14673	942	33	3	759	3	SLC36A1	5	150853243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180255	150853243	30062017	6548	14260											
FAT2	2196	broad.mit.edu	37	chr5	150887020	150887020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtgagacttgcaacggCggcagtagaagagaagcccg	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150887020C>T	ENST00000261800.5	-	22	12224	c.12212G>A	c.(12211-12213)cGc>cAc	p.R4071H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4071					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCAACGGCGGCAGTAGAA	0.577													False	0	False	5:150887020	0	T	150887020	C	T	150887020	3	4	88	1	0	0	0	0	1	0	0	0	5730	768	27	1	845	1	FAT2	5	150887020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33777	150887020	30028240	6549	14261											
FAT2	2196	broad.mit.edu	37	chr5	150920160	150920160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggctgttatcattgacgtCcaggacaaagatctccacag	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150920160C>T	ENST00000261800.5	-	10	9019	c.9007G>A	c.(9007-9009)Gac>Aac	p.D3003N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3003	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATTGACGTCCAGGACAAAG	0.547													False	0	False	5:150920160	0	T	150920160	C	T	150920160	3	4	88	1	0	0	0	0	1	0	0	0	5730	855	30	2	4098	2	FAT2	5	150920160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33140	150920160	29995100	6550	14262											
FAT2	2196	broad.mit.edu	37	chr5	150925264	150925264	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttgaaaaacttcaaggcCtccggctccaaaattttata	5	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150925264C>A	ENST00000261800.5	-	9	5436	c.5424G>T	c.(5422-5424)gaG>gaT	p.E1808D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1808	Cadherin 16.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTCAAGGCCTCCGGCTCCA	0.413													False	0	False	5:150925264	0	A	150925264	C	A	150925264	3	1	88	1	0	0	0	0	1	0	0	0	5730	680	24	3	7685	3	FAT2	5	150925264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5104	150925264	29989996	6551	14263											
FAT2	2196	broad.mit.edu	37	chr5	150925761	150925761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaatgatcactgtagccaGgtcatgccattgtggggagc	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150925761G>A	ENST00000261800.5	-	9	4939	c.4927C>T	c.(4927-4929)Ctg>Ttg	p.L1643L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1643	Cadherin 14.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGTAGCCAGGTCATGCCAT	0.463													False	0	False	5:150925761	0	A	150925761	G	A	150925761	2	1	88	1	0	0	0	0	0	0	0	1	5730	991	35	2		2	FAT2	5	150925761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	497	150925761	29989499	6552	14264											
FAT2	2196	broad.mit.edu	37	chr5	150930195	150930195	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccccgagccgaggtccaAttttcccaccgttaccagga	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150930195A>C	ENST00000261800.5	-	7	4546	c.4534T>G	c.(4534-4536)Ttg>Gtg	p.L1512V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1512	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGAGGTCCAATTTTCCCACC	0.527													False	0	True	5:150930195	0	C	150930195	A	C	150930195	3	2	88	1	0	0	0	0	1	0	0	0	5730	98	4	4	8583	4	FAT2	5	150930195	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4434	150930195	29985065	6553	14265											
FAT2	2196	broad.mit.edu	37	chr5	150930355	150930355	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccctggcacggtgtcctgGggaactctgacttcataacg	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150930355G>T	ENST00000261800.5	-	7	4386	c.4374C>A	c.(4372-4374)ccC>ccA	p.P1458P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1458	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGTGTCCTGGGGAACTCTGA	0.527													False	0	True	5:150930355	0	T	150930355	G	T	150930355	2	4	88	1	0	0	0	0	0	0	0	1	5730	1219	43	3		3	FAT2	5	150930355	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160	150930355	29984905	6554	14266											
FAT2	2196	broad.mit.edu	37	chr5	150934003	150934003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtcgatactgaaggcctCctcatcgctgtcctcgatac	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150934003C>T	ENST00000261800.5	-	4	3877	c.3865G>A	c.(3865-3867)Gag>Aag	p.E1289K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1289	Cadherin 11.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGGCCTCCTCATCGCTG	0.547													False	0	False	5:150934003	0	T	150934003	C	T	150934003	3	4	88	1	0	0	0	0	1	0	0	0	5730	864	30	2	9264	2	FAT2	5	150934003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3648	150934003	29981257	6555	14267											
FAT2	2196	broad.mit.edu	37	chr5	150945633	150945633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcacctgcggggcccaGgtcaggatcagaggcatcca	12	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150945633G>A	ENST00000261800.5	-	1	2872	c.2860C>T	c.(2860-2862)Ctg>Ttg	p.L954L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	954	Cadherin 8.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGGGCCCAGGTCAGGATCA	0.587													False	0	False	5:150945633	0	A	150945633	G	A	150945633	2	1	88	1	0	0	0	0	0	0	0	1	5730	991	35	2		2	FAT2	5	150945633	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11630	150945633	29969627	6556	14268											
FAT2	2196	broad.mit.edu	37	chr5	150947261	150947261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtggtgatcaacccagttCgagcattaagtttaaatcct	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150947261C>T	ENST00000261800.5	-	1	1244	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	411	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACCCAGTTCGAGCATTAAG	0.537													False	0	False	5:150947261	0	T	150947261	C	T	150947261	3	4	88	1	0	0	0	0	1	0	0	0	5730	884	31	1	11909	1	FAT2	5	150947261	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1628	150947261	29967999	6557	14269											
FAT2	2196	broad.mit.edu	37	chr5	150947892	150947892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagccacagtgaccacacCgctggtgggatggatggcaa	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150947892C>T	ENST00000261800.5	-	1	613	c.601G>A	c.(601-603)Ggt>Agt	p.G201S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	201	Cadherin 2.		G -> A (in dbSNP:rs11739693).		epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGACCACACCGCTGGTGGGA	0.532													False	0	False	5:150947892	0	T	150947892	C	T	150947892	3	4	88	1	0	0	0	0	1	0	0	0	5730	652	23	1	12540	1	FAT2	5	150947892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	631	150947892	29967368	6558	14270											
FAT2	2196	broad.mit.edu	37	chr5	150948345	150948345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaagctctccacataggTcttgggagaagaattttcat	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150948345T>C	ENST00000261800.5	-	1	160	c.148A>G	c.(148-150)Acc>Gcc	p.T50A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	50	Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCACATAGGTCTTGGGAGAA	0.502													False	0	False	5:150948345	0	C	150948345	T	C	150948345	3	2	88	1	0	0	0	0	1	0	0	0	5730	1667	58	4	12993	4	FAT2	5	150948345	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	453	150948345	29966915	6559	14271											
G3BP1	10146	broad.mit.edu	37	chr5	151166218	151166218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagtcccctgctggtcgggCgggaatttgtgagacagtat	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151166218C>T	ENST00000394123.3	+	2	182	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	G3BP1_ENST00000356245.3_Missense_Mutation_p.R13W|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	13	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GCTGGTCGGGCGGGAATTTGT	0.468													False	0	True	5:151166218	0	T	151166218	C	T	151166218	3	4	88	1	0	0	0	0	1	0	0	0	6183	759	27	1	39	1	G3BP1	5	151166218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217873	151166218	29749042	6560	14272											
G3BP1	10146	broad.mit.edu	37	chr5	151175110	151175110	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtacctgatgattctggAactttctatgatcaggcagt	11	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151175110A>C	ENST00000394123.3	+	6	658	c.513A>C	c.(511-513)ggA>ggC	p.G171G	G3BP1_ENST00000356245.3_Silent_p.G171G|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	171	Glu-rich.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			ATGATTCTGGAACTTTCTATG	0.408													False	0	False	5:151175110	0	C	151175110	A	C	151175110	2	2	88	1	0	0	0	0	0	0	0	1	6183	233	9	4		4	G3BP1	5	151175110	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8892	151175110	29740150	6561	14273											
G3BP1	10146	broad.mit.edu	37	chr5	151183461	151183461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacagcccatcatgttcagaGgtgaggtccgtctgaatgtc	11	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151183461G>T	ENST00000394123.3	+	12	1355	c.1210G>T	c.(1210-1212)Ggt>Tgt	p.G404C	G3BP1_ENST00000356245.3_Missense_Mutation_p.G404C|G3BP1_ENST00000543466.1_Missense_Mutation_p.G222C			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	404	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CATGTTCAGAGGTGAGGTCCG	0.502													False	0	True	5:151183461	0	T	151183461	G	T	151183461	3	4	88	1	0	0	0	0	1	0	0	0	6183	1000	35	3	1252	3	G3BP1	5	151183461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8351	151183461	29731799	6562	14274											
NMUR2	56923	broad.mit.edu	37	chr5	151771975	151771975	+	Missense_Mutation	SNP	A	A	C													actgtttgtggaaagaagagAtcacattctggaatgctgcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151771975A>C	ENST00000255262.3	-	4	1190	c.1025T>G	c.(1024-1026)aTc>aGc	p.I342S		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	342					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAAGAAGAGATCACATTCTG	0.527													False	0	False	5:151771975	0	C	151771975	A	C	151771975	3	2	88	1	0	0	0	0	1	0	0	0	10575	333	12	4	226	4	NMUR2	5	151771975	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	588514	151771975	29143285	6563	14275	182	2									
NMUR2	56923	broad.mit.edu	37	chr5	151771983	151771983	+	Missense_Mutation	SNP	C	C	A													tggaaagaagagatcacattCtggaatgctgcctggaagcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151771983C>A	ENST00000255262.3	-	4	1182	c.1017G>T	c.(1015-1017)caG>caT	p.Q339H		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	339					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGATCACATTCTGGAATGCTG	0.507													False	0	False	5:151771983	0	A	151771983	C	A	151771983	3	1	88	1	0	0	0	0	1	0	0	0	10575	912	32	3	234	3	NMUR2	5	151771983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	151771983	29143277	6564	14276	182	2									
NMUR2	56923	broad.mit.edu	37	chr5	151784223	151784223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagtttggcgcggaacGggtgtaggatggccacgtag	17	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151784223G>A	ENST00000255262.3	-	1	617	c.452C>T	c.(451-453)cCg>cTg	p.P151L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	151					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.P151R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGCGCGGAACGGGTGTAGGAT	0.642													False	0	True	5:151784223	0	A	151784223	G	A	151784223	3	1	88	1	0	0	0	0	1	0	0	0	10575	1116	39	1	811	1	NMUR2	5	151784223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12240	151784223	29131037	6565	14277											
GRIA1	0	broad.mit.edu	37	chr5	152873617	152873617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgacagctttgagatgaCctatagatgtaagtaattgc	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:152873617C>T	ENST00000285900.5	+	2	555	c.212C>T	c.(211-213)aCc>aTc	p.T71I	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518142.1_Missense_Mutation_p.T71I|GRIA1_ENST00000448073.4_Missense_Mutation_p.T81I|GRIA1_ENST00000518783.1_Missense_Mutation_p.T81I|GRIA1_ENST00000521843.2_Missense_Mutation_p.T2I|GRIA1_ENST00000340592.5_Missense_Mutation_p.T71I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	71					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTTGAGATGACCTATAGATGT	0.458													False	0	False	5:152873617	0	T	152873617	C	T	152873617	3	4	88	1	0	0	0	0	1	0	0	0	6814	507	18	2	218	2	GRIA1	5	152873617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1089394	152873617	28041643	6566	14278											
GRIA1	0	broad.mit.edu	37	chr5	153056565	153056565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccactagtacacctctgcGctcacctacgatggggtgaa	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153056565G>A	ENST00000285900.5	+	7	1216	c.873G>A	c.(871-873)gcG>gcA	p.A291A	GRIA1_ENST00000518142.1_Silent_p.A211A|GRIA1_ENST00000448073.4_Silent_p.A301A|GRIA1_ENST00000518783.1_Silent_p.A301A|GRIA1_ENST00000521843.2_Silent_p.A222A|GRIA1_ENST00000340592.5_Silent_p.A291A	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	291					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACACCTCTGCGCTCACCTACG	0.527													False	0	False	5:153056565	0	A	153056565	G	A	153056565	2	1	88	1	0	0	0	0	0	0	0	1	6814	1074	38	1		1	GRIA1	5	153056565	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	182948	153056565	27858695	6567	14279											
MFAP3	4238	broad.mit.edu	37	chr5	153433216	153433216	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccacctgatgatataggAtctgcagaatctaactgtaa	8	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153433216A>G	ENST00000436816.1	+	3	1251	c.1032A>G	c.(1030-1032)ggA>ggG	p.G344G	MFAP3_ENST00000439768.2_Silent_p.G198G|MFAP3_ENST00000322602.5_Silent_p.G344G	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	344						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATGATATAGGATCTGCAGAAT	0.418													False	0	False	5:153433216	0	G	153433216	A	G	153433216	2	3	88	1	0	0	0	0	0	0	0	1	9582	320	12	4		4	MFAP3	5	153433216	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	376651	153433216	27482044	6568	14280											
GALNT10	55568	broad.mit.edu	37	chr5	153709140	153709140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccctctagctgcaacaGcaagcgctacctggagacac	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153709140G>A	ENST00000297107.6	+	4	547	c.410G>A	c.(409-411)aGc>aAc	p.S137N	GALNT10_ENST00000377661.2_Missense_Mutation_p.S137N|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.S137N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	137						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGCTGCAACAGCAAGCGCTAC	0.572													False	0	False	5:153709140	0	A	153709140	G	A	153709140	3	1	88	1	0	0	0	0	1	0	0	0	6251	971	34	2	424	2	GALNT10	5	153709140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275924	153709140	27206120	6569	14281											
GALNT10	55568	broad.mit.edu	37	chr5	153795488	153795488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaccagctgtggaaataccGcaaagtaagatgggatgcgg	13	8	0	1	rs145995359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153795488G>A	ENST00000297107.6	+	11	1786	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	GALNT10_ENST00000377661.2_Missense_Mutation_p.R488H|GALNT10_ENST00000377657.3_Missense_Mutation_p.R223H|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	550	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGGAAATACCGCAAAGTAAGA	0.507													False	0	False	5:153795488	0	A	153795488	G	A	153795488	3	1	88	1	0	0	0	0	1	0	0	0	6251	1087	38	1	1691	1	GALNT10	5	153795488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86348	153795488	27119772	6570	14282											
LARP1	23367	broad.mit.edu	37	chr5	154172210	154172210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaagcctcagcctacccGtaaactgccacccaagaagg	7	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154172210G>A	ENST00000336314.4	+	4	386	c.362G>A	c.(361-363)cGt>cAt	p.R121H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	198							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCCTACCCGTAAACTGCCA	0.498													False	0	True	5:154172210	0	A	154172210	G	A	154172210	3	1	88	1	0	0	0	0	1	0	0	0	8679	1145	40	1	376	1	LARP1	5	154172210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	376722	154172210	26743050	6571	14283											
LARP1	23367	broad.mit.edu	37	chr5	154174798	154174798	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaaggaaaatggatgcTgatggtttcctacccatcac	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154174798T>C	ENST00000336314.4	+	8	1089	c.1065T>C	c.(1063-1065)gcT>gcC	p.A355A		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	432							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATGGATGCTGATGGTTTCC	0.478													False	0	False	5:154174798	0	C	154174798	T	C	154174798	2	2	88	1	0	0	0	0	0	0	0	1	8679	1567	55	4		4	LARP1	5	154174798	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2588	154174798	26740462	6572	14284											
LARP1	23367	broad.mit.edu	37	chr5	154179551	154179551	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcctgacctggattctgaGaactggattgaagtgaagaa	12	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154179551G>A	ENST00000336314.4	+	10	1458	c.1434G>A	c.(1432-1434)gaG>gaA	p.E478E		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	555	HTH La-type RNA-binding.						protein binding|RNA binding	p.E555D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGATTCTGAGAACTGGATTG	0.582													False	0	False	5:154179551	0	A	154179551	G	A	154179551	2	1	88	1	0	0	0	0	0	0	0	1	8679	933	33	2		2	LARP1	5	154179551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4753	154179551	26735709	6573	14285											
KIF4B	285643	broad.mit.edu	37	chr5	154393573	154393573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgataaatccttcacctacGattttgtgtttgacccctgt	6	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154393573G>A	ENST00000435029.4	+	1	314	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	52	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTCACCTACGATTTTGTGTT	0.483													False	0	False	5:154393573	0	A	154393573	G	A	154393573	3	1	88	1	0	0	0	0	1	0	0	0	8354	1058	37	1	156	1	KIF4B	5	154393573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214022	154393573	26521687	6574	14286											
KIF4B	285643	broad.mit.edu	37	chr5	154393593	154393593	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattttgtgtttgacccctgTactgagcaggaagaagtctt	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154393593T>C	ENST00000435029.4	+	1	334	c.174T>C	c.(172-174)tgT>tgC	p.C58C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	58	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGACCCCTGTACTGAGCAGG	0.502													False	0	False	5:154393593	0	C	154393593	T	C	154393593	2	2	88	1	0	0	0	0	0	0	0	1	8354	1644	57	4		4	KIF4B	5	154393593	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20	154393593	26521667	6575	14287											
KIF4B	285643	broad.mit.edu	37	chr5	154395412	154395412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaagtttagacaatggAagcagaaaaaagacaaagaa	10	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154395412A>G	ENST00000435029.4	+	1	2153	c.1993A>G	c.(1993-1995)Aag>Gag	p.K665E		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	665	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGACAATGGAAGCAGAAAAA	0.398													False	0	False	5:154395412	0	G	154395412	A	G	154395412	3	3	88	1	0	0	0	0	1	0	0	0	8354	247	9	4	1995	4	KIF4B	5	154395412	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1819	154395412	26519848	6576	14288											
KIF4B	285643	broad.mit.edu	37	chr5	154395477	154395477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaagaggcaatatgagctGctcaaacttgaaagaaactt	9	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154395477G>A	ENST00000435029.4	+	1	2218	c.2058G>A	c.(2056-2058)ctG>ctA	p.L686L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	686	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATATGAGCTGCTCAAACTTG	0.428													False	0	False	5:154395477	0	A	154395477	G	A	154395477	2	1	88	1	0	0	0	0	0	0	0	1	8354	1306	46	2		2	KIF4B	5	154395477	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	154395477	26519783	6577	14289											
TIMD4	91937	broad.mit.edu	37	chr5	156381524	156381524	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtcactttcactggggTttaagatggtcaaggagaca	12	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156381524T>G	ENST00000274532.2	-	2	358	c.302A>C	c.(301-303)aAc>aCc	p.N101T	TIMD4_ENST00000407087.3_Missense_Mutation_p.N101T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	101	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCACTGGGGTTTAAGATGGT	0.493													False	0	True	5:156381524	0	G	156381524	T	G	156381524	3	3	88	1	0	0	0	0	1	0	0	0	15985	1725	60	4	866	4	TIMD4	5	156381524	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1986047	156381524	24533736	6578	14290											
FAM71B	153745	broad.mit.edu	37	chr5	156589472	156589472	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctttaaatggatttggTttcaaagacgatcatctccg	7	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156589472T>G	ENST00000302938.4	-	2	1899	c.1804A>C	c.(1804-1806)Acc>Ccc	p.T602P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	602						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGGATTTGGTTTCAAAGACG	0.498													False	0	True	5:156589472	0	G	156589472	T	G	156589472	3	3	88	1	0	0	0	0	1	0	0	0	5648	1725	60	4	17	4	FAM71B	5	156589472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	207948	156589472	24325788	6579	14291											
FAM71B	153745	broad.mit.edu	37	chr5	156590053	156590053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccatctcgttcactcAtgtagccttcgctttgcaag	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156590053A>G	ENST00000302938.4	-	2	1318	c.1223T>C	c.(1222-1224)aTg>aCg	p.M408T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	408						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCGTTCACTCATGTAGCCTTC	0.502													False	0	False	5:156590053	0	G	156590053	A	G	156590053	3	3	88	1	0	0	0	0	1	0	0	0	5648	217	8	4	598	4	FAM71B	5	156590053	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	581	156590053	24325207	6580	14292											
FAM71B	153745	broad.mit.edu	37	chr5	156592605	156592605	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtcttcgggtggtgcgTccccagatagaagtgttggg	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156592605T>C	ENST00000302938.4	-	1	670	c.575A>G	c.(574-576)gAc>gGc	p.D192G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	192						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGTGGTGCGTCCCCAGATAG	0.507													False	0	True	5:156592605	0	C	156592605	T	C	156592605	3	2	88	1	0	0	0	0	1	0	0	0	5648	1667	58	4	1250	4	FAM71B	5	156592605	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2552	156592605	24322655	6581	14293											
ITK	3702	broad.mit.edu	37	chr5	156635904	156635904	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctccccacagaagaAgcgcacgctgaaggggtcca	10	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156635904A>C	ENST00000422843.3	+	2	295	c.143A>C	c.(142-144)aAg>aCg	p.K48T	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	48	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCACAGAAGAAGCGCACGCTG	0.433			T	SYK	peripheral T-cell lymphoma								False	0	False	5:156635904	0	C	156635904	A	C	156635904	3	2	88	1	0	0	0	0	1	0	0	0	7959	72	3	4	149	4	ITK	5	156635904	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43299	156635904	24279356	6582	14294											
CYFIP2	26999	broad.mit.edu	37	chr5	156741989	156741989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccccagtactcttggaagCtggttcatcccacagacaag	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156741989C>A	ENST00000347377.6	+	13	1674	c.1243C>A	c.(1243-1245)Ctg>Atg	p.L415M	CYFIP2_ENST00000435847.2_Missense_Mutation_p.L89M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L415M|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L389M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L415M|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L219M|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L340M	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	415					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCTTGGAAGCTGGTTCATCC	0.468													False	0	False	5:156741989	0	A	156741989	C	A	156741989	3	1	88	1	0	0	0	0	1	0	0	0	4163	796	28	3	1289	3	CYFIP2	5	156741989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106085	156741989	24173271	6583	14295											
CYFIP2	26999	broad.mit.edu	37	chr5	156746841	156746841	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcttcaaccaggccatcagGaacaccatctacgcggcatt	8	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156746841G>A	ENST00000347377.6	+	14	1859	c.1428G>A	c.(1426-1428)agG>agA	p.R476R	CYFIP2_ENST00000435847.2_Silent_p.R150R|CYFIP2_ENST00000318218.6_Silent_p.R476R|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000521420.1_Silent_p.R450R|CYFIP2_ENST00000377576.3_Silent_p.R476R|CYFIP2_ENST00000522463.1_Silent_p.R280R|CYFIP2_ENST00000541131.1_Silent_p.R401R	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	476					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGCCATCAGGAACACCATCT	0.597													False	0	False	5:156746841	0	A	156746841	G	A	156746841	2	1	88	1	0	0	0	0	0	0	0	1	4163	1165	41	2		2	CYFIP2	5	156746841	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4852	156746841	24168419	6584	14296											
CYFIP2	26999	broad.mit.edu	37	chr5	156746871	156746871	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgcggcattgcaggacttCgcccaggtgacgctgcgtga	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156746871C>T	ENST00000347377.6	+	14	1889	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	CYFIP2_ENST00000435847.2_Silent_p.F160F|CYFIP2_ENST00000318218.6_Silent_p.F486F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000521420.1_Silent_p.F460F|CYFIP2_ENST00000377576.3_Silent_p.F486F|CYFIP2_ENST00000522463.1_Silent_p.F290F|CYFIP2_ENST00000541131.1_Silent_p.F411F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	486					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCAGGACTTCGCCCAGGTGA	0.572													False	0	False	5:156746871	0	T	156746871	C	T	156746871	2	4	88	1	0	0	0	0	0	0	0	1	4163	883	31	1		1	CYFIP2	5	156746871	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	156746871	24168389	6585	14297											
CYFIP2	26999	broad.mit.edu	37	chr5	156747679	156747679	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagcgtcctacaggcaattCgaaagaccatctgtgactgg	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156747679C>T	ENST00000347377.6	+	15	1971	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*	CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R188*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000521420.1_Nonsense_Mutation_p.R488*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R318*|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R439*	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	514					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGGCAATTCGAAAGACCAT	0.532													False	0	False	5:156747679	0	T	156747679	C	T	156747679	4	4	88	1	0	0	0	0	0	1	0	0	4163	876	31	1	1594	1	CYFIP2	5	156747679	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	808	156747679	24167581	6586	14298											
NIPAL4	348938	broad.mit.edu	37	chr5	156890321	156890321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcctcttgcgactcgtggCcacgggagccactcgagctg	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156890321C>A	ENST00000311946.7	+	2	559	c.443C>A	c.(442-444)gCc>gAc	p.A148D	NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.A148D	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	148						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CGACTCGTGGCCACGGGAGCC	0.597													False	0	False	5:156890321	0	A	156890321	C	A	156890321	3	1	88	1	0	0	0	0	1	0	0	0	10495	739	26	3	449	3	NIPAL4	5	156890321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142642	156890321	24024939	6587	14299											
ADAM19	8728	broad.mit.edu	37	chr5	156908832	156908832	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgccagaggccgggactgCtgagggccagcaccaggggg	19	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156908832C>A	ENST00000257527.4	-	22	2748	c.2670G>T	c.(2668-2670)caG>caT	p.Q890H	ADAM19_ENST00000430702.2_Intron|ADAM19_ENST00000394020.1_Missense_Mutation_p.Q892H|ADAM19_ENST00000517905.1_Missense_Mutation_p.Q890H	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	890					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCGGGACTGCTGAGGGCCAG	0.687													False	0	False	5:156908832	0	A	156908832	C	A	156908832	3	1	88	1	0	0	0	0	1	0	0	0	240	796	28	3	94	3	ADAM19	5	156908832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18511	156908832	24006428	6588	14300											
ADAM19	8728	broad.mit.edu	37	chr5	156945848	156945848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctctaaataatcagccaCgaggtaaagctccacatact	5	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156945848C>T	ENST00000257527.4	-	7	727	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	ADAM19_ENST00000430702.2_De_novo_Start_InFrame|ADAM19_ENST00000394020.1_Missense_Mutation_p.V219M|ADAM19_ENST00000517905.1_Missense_Mutation_p.V217M	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	217	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAATCAGCCACGAGGTAAAGC	0.443													False	0	False	5:156945848	0	T	156945848	C	T	156945848	3	4	88	1	0	0	0	0	1	0	0	0	240	536	19	1	2175	1	ADAM19	5	156945848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37016	156945848	23969412	6589	14301											
SOX30	11063	broad.mit.edu	37	chr5	157065339	157065339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggccaaggggagggggCtggtagacatgtgggtgtgg	23	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157065339C>T	ENST00000265007.6	-	4	2120	c.1779G>A	c.(1777-1779)caG>caA	p.Q593Q	SOX30_ENST00000519442.1_Silent_p.Q288Q|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	593	Pro-rich.				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGAGGGGGCTGGTAGACAT	0.557													False	0	True	5:157065339	0	T	157065339	C	T	157065339	2	4	88	1	0	0	0	0	0	0	0	1	15032	796	28	2		2	SOX30	5	157065339	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119491	157065339	23849921	6590	14302											
SOX30	11063	broad.mit.edu	37	chr5	157073693	157073693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgggaattaccacagagtAcgtaggtgagcggtaaggat	15	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157073693A>G	ENST00000265007.6	-	3	1680	c.1339T>C	c.(1339-1341)Tac>Cac	p.Y447H	SOX30_ENST00000519442.1_Missense_Mutation_p.Y142H|SOX30_ENST00000311371.5_Missense_Mutation_p.Y447H	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	447					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCACAGAGTACGTAGGTGAG	0.368													False	0	False	5:157073693	0	G	157073693	A	G	157073693	3	3	88	1	0	0	0	0	1	0	0	0	15032	391	14	4	934	4	SOX30	5	157073693	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8354	157073693	23841567	6591	14303											
THG1L	54974	broad.mit.edu	37	chr5	157161741	157161741	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggactacctcagctggCgacaagcagattgtgagtgg	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157161741C>T	ENST00000231198.7	+	3	770	c.526C>T	c.(526-528)Cga>Tga	p.R176*		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	176					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCAGCTGGCGACAAGCAGA	0.468													False	0	False	5:157161741	0	T	157161741	C	T	157161741	4	4	88	1	0	0	0	0	0	1	0	0	15943	760	27	1	536	1	THG1L	5	157161741	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88048	157161741	23753519	6592	14304											
LSM11	134353	broad.mit.edu	37	chr5	157178476	157178476	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgttcacatccgcacttTcaagggacttcggggcgtct	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157178476T>G	ENST00000286307.5	+	2	583	c.527T>G	c.(526-528)tTc>tGc	p.F176C		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	176	SM 1.				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCCGCACTTTCAAGGGACTT	0.512													False	0	True	5:157178476	0	G	157178476	T	G	157178476	3	3	88	1	0	0	0	0	1	0	0	0	9114	1783	62	4	533	4	LSM11	5	157178476	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16735	157178476	23736784	6593	14305											
EBF1	1879	broad.mit.edu	37	chr5	158223401	158223401	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgacctgtaacccatcaaaGaaattgtcccctatgatgat	6	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158223401G>A	ENST00000313708.6	-	9	1143	c.861C>T	c.(859-861)ttC>ttT	p.F287F	EBF1_ENST00000380654.4_Silent_p.F256F|EBF1_ENST00000517373.1_Silent_p.F279F|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	287	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCCATCAAAGAAATTGTCCC	0.453			T	HMGA2	lipoma								False	0	True	5:158223401	0	A	158223401	G	A	158223401	2	1	88	1	0	0	0	0	0	0	0	1	4910	933	33	2		2	EBF1	5	158223401	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1044925	158223401	22691859	6594	14306											
EBF1	1879	broad.mit.edu	37	chr5	158526367	158526367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacctctgcgccgccgtGttggcgtccagcaccccggc	11	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158526367G>A	ENST00000313708.6	-	1	402	c.120C>T	c.(118-120)aaC>aaT	p.N40N	EBF1_ENST00000380654.4_Silent_p.N40N|EBF1_ENST00000517373.1_Silent_p.N40N|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	40					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGCCGCCGTGTTGGCGTCCA	0.731			T	HMGA2	lipoma								False	0	False	5:158526367	0	A	158526367	G	A	158526367	2	1	88	1	0	0	0	0	0	0	0	1	4910	1368	48	2		2	EBF1	5	158526367	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302966	158526367	22388893	6595	14307											
UBLCP1	134510	broad.mit.edu	37	chr5	158696032	158696032	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtttctcaagacccttacaGgagttcttccagaacgccaa	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158696032G>T	ENST00000296786.6	+	2	435	c.109G>T	c.(109-111)Gga>Tga	p.G37*		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	37	Ubiquitin-like.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACCCTTACAGGAGTTCTTCC	0.383													False	0	False	5:158696032	0	T	158696032	G	T	158696032	4	4	88	1	0	0	0	0	0	1	0	0	16975	1001	35	3	111	3	UBLCP1	5	158696032	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169665	158696032	22219228	6596	14308											
UBLCP1	134510	broad.mit.edu	37	chr5	158711927	158711927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatatctctcaaagaaGcaaggacagtagttacaagt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158711927G>T	ENST00000296786.6	+	11	1271	c.945G>T	c.(943-945)aaG>aaT	p.K315N		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	315						nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCAAAGAAGCAAGGACAGT	0.338													False	0	False	5:158711927	0	T	158711927	G	T	158711927	3	4	88	1	0	0	0	0	1	0	0	0	16975	962	34	3	983	3	UBLCP1	5	158711927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15895	158711927	22203333	6597	14309											
IL12B	3593	broad.mit.edu	37	chr5	158753736	158753736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcccatatggccacgagggGagatgccagaaaaaccaggg	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158753736G>A	ENST00000231228.2	-	2	510	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	19					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCACGAGGGGAGATGCCAGA	0.507													False	0	True	5:158753736	0	A	158753736	G	A	158753736	3	1	88	1	0	0	0	0	1	0	0	0	7675	1174	41	2	955	2	IL12B	5	158753736	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41809	158753736	22161524	6598	14310											
TTC1	7265	broad.mit.edu	37	chr5	159437762	159437762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgaggaggagccaggagCggacaaggttgagaacaaat	15	5	0	2	rs41275307	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159437762C>T	ENST00000231238.5	+	2	337	c.227C>T	c.(226-228)gCg>gTg	p.A76V	TTC1_ENST00000522793.1_Missense_Mutation_p.A76V	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	76					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GAGCCAGGAGCGGACAAGGTT	0.453													False	0	False	5:159437762	0	T	159437762	C	T	159437762	3	4	88	1	0	0	0	0	1	0	0	0	16762	768	27	1	229	1	TTC1	5	159437762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	684026	159437762	21477498	6599	14311											
PWWP2A	114825	broad.mit.edu	37	chr5	159546002	159546002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctgaggcagcggcggctCctcgcgctcctcgggagccg	18	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159546002C>T	ENST00000456329.3	-	1	428	c.394G>A	c.(394-396)Gag>Aag	p.E132K	PWWP2A_ENST00000523662.1_Missense_Mutation_p.E132K|PWWP2A_ENST00000307063.7_Missense_Mutation_p.E132K	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	132	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCGGCGGCTCCTCGCGCTCC	0.766													False	0	False	5:159546002	0	T	159546002	C	T	159546002	3	4	88	1	0	0	0	0	1	0	0	0	12924	864	30	2	2023	2	PWWP2A	5	159546002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108240	159546002	21369258	6600	14312											
PWWP2A	114825	broad.mit.edu	37	chr5	159546030	159546030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgggagccgggggctgCtccggcggcgatgcaggaga	19	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159546030C>T	ENST00000456329.3	-	1	400	c.366G>A	c.(364-366)gaG>gaA	p.E122E	PWWP2A_ENST00000523662.1_Silent_p.E122E|PWWP2A_ENST00000307063.7_Silent_p.E122E	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	122	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGGGGGCTGCTCCGGCGGCG	0.746													False	0	False	5:159546030	0	T	159546030	C	T	159546030	2	4	88	1	0	0	0	0	0	0	0	1	12924	796	28	2		2	PWWP2A	5	159546030	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	159546030	21369230	6601	14313											
CCNJL	79616	broad.mit.edu	37	chr5	159707577	159707577	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggtgtagagctgcttggAggtggtgacgttgtagcgat	17	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159707577A>G	ENST00000393977.3	-	3	520	c.235T>C	c.(235-237)Tcc>Ccc	p.S79P	CCNJL_ENST00000257536.7_Missense_Mutation_p.S79P|CCNJL_ENST00000519673.1_Missense_Mutation_p.S79P|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000505287.2_Missense_Mutation_p.S124P|CCNJL_ENST00000541762.1_Missense_Mutation_p.S78P	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	79	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGCTTGGAGGTGGTGACG	0.627													False	0	False	5:159707577	0	G	159707577	A	G	159707577	3	3	88	1	0	0	0	0	1	0	0	0	2952	304	11	4	1092	4	CCNJL	5	159707577	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	161547	159707577	21207683	6602	14314											
CCNJL	79616	broad.mit.edu	37	chr5	159738895	159738895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgcagtggacgtccgaGgcgacgcgcccttcccacca	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159738895G>A	ENST00000393977.3	-	2	321	c.36C>T	c.(34-36)gcC>gcT	p.A12A	CCNJL_ENST00000257536.7_Silent_p.A12A|CCNJL_ENST00000519673.1_Silent_p.A12A|CCNJL_ENST00000377503.2_Intron|CCNJL_ENST00000505287.2_Intron|CCNJL_ENST00000541762.1_Silent_p.A11A	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	12						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACGTCCGAGGCGACGCGCC	0.652													False	0	False	5:159738895	0	A	159738895	G	A	159738895	2	1	88	1	0	0	0	0	0	0	0	1	2952	987	35	2		2	CCNJL	5	159738895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31318	159738895	21176365	6603	14315											
C5orf54	63920	broad.mit.edu	37	chr5	159821708	159821708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgtaactacgatatgagGtatctcttttttcacgtagg	9	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159821708G>A	ENST00000408953.3	-	2	1297	c.790C>T	c.(790-792)Cct>Tct	p.P264S	C5orf54_ENST00000523213.1_Missense_Mutation_p.P264S	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	264										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						acgatatgaggtatctctttt	0.408													False	0	False	5:159821708	0	A	159821708	G	A	159821708	3	1	88	1	0	0	0	0	1	0	0	0	2327	1261	44	2	998	2	C5orf54	5	159821708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82813	159821708	21093552	6604	14316											
SLU7	10569	broad.mit.edu	37	chr5	159834607	159834607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagatcccttgtcatagGcttcccatgcaaacactaga	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159834607G>A	ENST00000297151.4	-	11	1388	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	334					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTGTCATAGGCTTCCCATGC	0.388													False	0	False	5:159834607	0	A	159834607	G	A	159834607	3	1	88	1	0	0	0	0	1	0	0	0	14835	1203	42	2	783	2	SLU7	5	159834607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12899	159834607	21080653	6605	14317											
SLU7	10569	broad.mit.edu	37	chr5	159835352	159835352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttacttttgcaatatcttctCgaatcctgagattccggaca	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159835352C>T	ENST00000297151.4	-	8	1190	c.803G>A	c.(802-804)cGa>cAa	p.R268Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	268					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATATCTTCTCGAATCCTGAG	0.368													False	0	False	5:159835352	0	T	159835352	C	T	159835352	3	4	88	1	0	0	0	0	1	0	0	0	14835	884	31	1	993	1	SLU7	5	159835352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	745	159835352	21079908	6606	14318											
ATP10B	23120	broad.mit.edu	37	chr5	160047706	160047706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccagactccaggatgtcGccctggtcccacatgctgct	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160047706G>A	ENST00000327245.5	-	15	2910	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	688					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGATGTCGCCCTGGTCCC	0.602													False	0	True	5:160047706	0	A	160047706	G	A	160047706	2	1	88	1	0	0	0	0	0	0	0	1	1121	1074	38	1		1	ATP10B	5	160047706	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212354	160047706	20867554	6607	14319											
ATP10B	23120	broad.mit.edu	37	chr5	160063213	160063213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcaggatgatcattgtgagGaacatgtagaagcccccaag	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160063213G>T	ENST00000327245.5	-	11	1950	c.1104C>A	c.(1102-1104)ttC>ttA	p.F368L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	368					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATTGTGAGGAACATGTAGA	0.488													False	0	False	5:160063213	0	T	160063213	G	T	160063213	3	4	88	1	0	0	0	0	1	0	0	0	1121	1165	41	3	3345	3	ATP10B	5	160063213	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15507	160063213	20852047	6608	14320											
GABRB2	0	broad.mit.edu	37	chr5	160721349	160721349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagcattgtgcttctgggGtctccaagtcccatcacagc	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160721349G>A	ENST00000274547.2	-	11	1495	c.1278C>T	c.(1276-1278)gaC>gaT	p.D426D	GABRB2_ENST00000517901.1_Silent_p.D325D|GABRB2_ENST00000393959.1_Silent_p.D426D|GABRB2_ENST00000353437.6_Silent_p.D388D|GABRB2_ENST00000517547.1_Silent_p.D228D|GABRB2_ENST00000520240.1_Silent_p.D388D	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	426					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGCTTCTGGGGTCTCCAAGTC	0.507													False	0	True	5:160721349	0	A	160721349	G	A	160721349	2	1	88	1	0	0	0	0	0	0	0	1	6209	1252	44	2		2	GABRB2	5	160721349	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	658136	160721349	20193911	6609	14321											
GABRB2	0	broad.mit.edu	37	chr5	160757956	160757956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcagctgctttcttttgGcgttggggccccctcccaaa	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160757956G>A	ENST00000274547.2	-	9	1228	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R	GABRB2_ENST00000517901.1_Silent_p.R274R|GABRB2_ENST00000393959.1_Silent_p.R337R|GABRB2_ENST00000353437.6_Silent_p.R337R|GABRB2_ENST00000517547.1_Silent_p.R177R|GABRB2_ENST00000520240.1_Silent_p.R337R	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	337					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTTTCTTTTGGCGTTGGGGCC	0.502													False	0	False	5:160757956	0	A	160757956	G	A	160757956	2	1	88	1	0	0	0	0	0	0	0	1	6209	1190	42	2		2	GABRB2	5	160757956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36607	160757956	20157304	6610	14322											
HMMR	3161	broad.mit.edu	37	chr5	162891738	162891738	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttccgcagaatctaaacAaaatcttaatgttgacaaag	5	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:162891738A>T	ENST00000393915.4	+	3	298	c.155A>T	c.(154-156)cAa>cTa	p.Q52L	HMMR_ENST00000353866.3_Missense_Mutation_p.Q52L|HMMR_ENST00000358715.3_Missense_Mutation_p.Q52L|HMMR_ENST00000432118.2_Intron	NM_001142556.1|NM_012484.2	NP_001136028.1|NP_036616.2	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	52						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GAATCTAAACAAAATCTTAAT	0.343													False	0	True	5:162891738	0	T	162891738	A	T	162891738	3	4	88	1	0	0	0	0	1	0	0	0	7289	130	5	5	165	5	HMMR	5	162891738	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2133782	162891738	18023522	6611	14323											
WWC1	23286	broad.mit.edu	37	chr5	167812302	167812302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggtggtggcccaggagGctctgagtgcacaaaaggag	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167812302G>A	ENST00000265293.4	+	3	818	c.316G>A	c.(316-318)Gct>Act	p.A106T	WWC1_ENST00000521089.1_Missense_Mutation_p.A106T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	106					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGCCCAGGAGGCTCTGAGTGC	0.562													False	0	False	5:167812302	0	A	167812302	G	A	167812302	3	1	88	1	0	0	0	0	1	0	0	0	17495	1203	42	2	326	2	WWC1	5	167812302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4920564	167812302	13102958	6612	14324											
WWC1	23286	broad.mit.edu	37	chr5	167833206	167833206	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattaactgtctcctagaatCgataagaaaatgtctgatgc	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167833206C>T	ENST00000265293.4	+	6	1096	c.594C>T	c.(592-594)atC>atT	p.I198I	WWC1_ENST00000521089.1_Silent_p.I198I	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	198					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTCCTAGAATCGATAAGAAAA	0.483													False	0	False	5:167833206	0	T	167833206	C	T	167833206	2	4	88	1	0	0	0	0	0	0	0	1	17495	874	31	1		1	WWC1	5	167833206	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20904	167833206	13082054	6613	14325											
WWC1	23286	broad.mit.edu	37	chr5	167850797	167850797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggccaagacccagaagGcagagggaggtggccgcctg	18	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167850797G>A	ENST00000265293.4	+	11	2036	c.1534G>A	c.(1534-1536)Gca>Aca	p.A512T	WWC1_ENST00000521089.1_Missense_Mutation_p.A512T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	512					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GACCCAGAAGGCAGAGGGAGG	0.657													False	0	False	5:167850797	0	A	167850797	G	A	167850797	3	1	88	1	0	0	0	0	1	0	0	0	17495	1203	42	2	1576	2	WWC1	5	167850797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17591	167850797	13064463	6614	14326											
WWC1	23286	broad.mit.edu	37	chr5	167882444	167882444	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggagagtgggcaccccgtcCcaggggccatttcttcgagg	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167882444C>A	ENST00000265293.4	+	19	3244	c.2742C>A	c.(2740-2742)tcC>tcA	p.S914S	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.S914S	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	914	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCACCCCGTCCCAGGGGCCAT	0.632													False	0	True	5:167882444	0	A	167882444	C	A	167882444	2	1	88	1	0	0	0	0	0	0	0	1	17495	610	22	3		3	WWC1	5	167882444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31647	167882444	13032816	6615	14327											
WWC1	23286	broad.mit.edu	37	chr5	167891807	167891807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggagttagacctgcaggCgacaagaacctggcacagcc	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167891807C>T	ENST00000265293.4	+	21	3492	c.2990C>T	c.(2989-2991)gCg>gTg	p.A997V	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.A1003V	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	997	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GACCTGCAGGCGACAAGAACC	0.612													False	0	False	5:167891807	0	T	167891807	C	T	167891807	3	4	88	1	0	0	0	0	1	0	0	0	17495	768	27	1	3090	1	WWC1	5	167891807	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9363	167891807	13023453	6616	14328											
RARS	5917	broad.mit.edu	37	chr5	167922434	167922434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaatttgcagggtatgacGtgctcaggtatgtgctcttg	13	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167922434G>A	ENST00000231572.3	+	6	748	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	RARS_ENST00000538719.1_Missense_Mutation_p.V26M	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	232					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		AGGGTATGACGTGCTCAGGTA	0.408													False	0	False	5:167922434	0	A	167922434	G	A	167922434	3	1	88	1	0	0	0	0	1	0	0	0	13137	1145	40	1	716	1	RARS	5	167922434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30627	167922434	12992826	6617	14329											
RARS	5917	broad.mit.edu	37	chr5	167929034	167929034	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctatgatgcattggaCgtctctttaatagagagagg	10	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167929034C>T	ENST00000231572.3	+	9	1035	c.981C>T	c.(979-981)gaC>gaT	p.D327D	RARS_ENST00000520421.1_3'UTR|RARS_ENST00000538719.1_Silent_p.D121D	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	327					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ATGCATTGGACGTCTCTTTAA	0.308													False	0	False	5:167929034	0	T	167929034	C	T	167929034	2	4	88	1	0	0	0	0	0	0	0	1	13137	535	19	1		1	RARS	5	167929034	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6600	167929034	12986226	6618	14330											
SLIT3	6586	broad.mit.edu	37	chr5	168112785	168112785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacagtgatgagcttctcGcatctggggccggcgaagcc	14	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168112785G>A	ENST00000519560.1	-	31	3881	c.3462C>T	c.(3460-3462)tgC>tgT	p.C1154C	SLIT3_ENST00000332966.8_Silent_p.C1161C|SLIT3_ENST00000404867.3_Silent_p.C1154C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1154	EGF-like 6.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGCTTCTCGCATCTGGGGC	0.647													False	0	False	5:168112785	0	A	168112785	G	A	168112785	2	1	88	1	0	0	0	0	0	0	0	1	14821	1079	38	1		1	SLIT3	5	168112785	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183751	168112785	12802475	6619	14331											
SLIT3	6586	broad.mit.edu	37	chr5	168139347	168139347	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaacgctggaaatgtcattGccatggagggttctgaagca	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168139347G>T	ENST00000519560.1	-	24	2915	c.2496C>A	c.(2494-2496)ggC>ggA	p.G832G	SLIT3_ENST00000332966.8_Silent_p.G832G|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Silent_p.G832G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	832					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATGTCATTGCCATGGAGGG	0.493													False	0	False	5:168139347	0	T	168139347	G	T	168139347	2	4	88	1	0	0	0	0	0	0	0	1	14821	1306	46	3		3	SLIT3	5	168139347	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26562	168139347	12775913	6620	14332											
SLIT3	6586	broad.mit.edu	37	chr5	168244398	168244398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaactggccaactgtccGtcgctgtcgcagccaatccg	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168244398G>A	ENST00000519560.1	-	8	1119	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	SLIT3_ENST00000332966.8_Missense_Mutation_p.R234W|SLIT3_ENST00000404867.3_Missense_Mutation_p.R234W	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	234	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAACTGTCCGTCGCTGTCGC	0.612													False	0	False	5:168244398	0	A	168244398	G	A	168244398	3	1	88	1	0	0	0	0	1	0	0	0	14821	1144	40	1	3987	1	SLIT3	5	168244398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105051	168244398	12670862	6621	14333											
SLIT3	6586	broad.mit.edu	37	chr5	168310296	168310296	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttcacatcggtgatgccgcgGaacgccttcctcgggatccc	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168310296G>T	ENST00000519560.1	-	5	878	c.459C>A	c.(457-459)ttC>ttA	p.F153L	SLIT3_ENST00000332966.8_Missense_Mutation_p.F153L|SLIT3_ENST00000404867.3_Missense_Mutation_p.F153L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	153					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGATGCCGCGGAACGCCTTCC	0.498													False	0	False	5:168310296	0	T	168310296	G	T	168310296	3	4	88	1	0	0	0	0	1	0	0	0	14821	1165	41	3	4240	3	SLIT3	5	168310296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65898	168310296	12604964	6622	14334											
DOCK2	1794	broad.mit.edu	37	chr5	169116331	169116331	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaacaatctgaaggtggtCttcacggtgagtgtgcaccc	11	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169116331C>A	ENST00000256935.8	+	9	917	c.837C>A	c.(835-837)gtC>gtA	p.V279V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	279					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAAGGTGGTCTTCACGGTGA	0.552													False	0	False	5:169116331	0	A	169116331	C	A	169116331	2	1	88	1	0	0	0	0	0	0	0	1	4717	900	32	3		3	DOCK2	5	169116331	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	806035	169116331	11798929	6623	14335											
DOCK2	1794	broad.mit.edu	37	chr5	169138991	169138991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatctgcgattcatgtttcGacatcggtcatctctggaat	8	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169138991G>A	ENST00000256935.8	+	16	1615	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.D39N|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	512	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCATGTTTCGACATCGGTCA	0.498													False	0	False	5:169138991	0	A	169138991	G	A	169138991	3	1	88	1	0	0	0	0	1	0	0	0	4717	1058	37	1	1597	1	DOCK2	5	169138991	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22660	169138991	11776269	6624	14336											
DOCK2	1794	broad.mit.edu	37	chr5	169230145	169230145	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgacatgcaacaccaggtcCtggagaggaagtactgcgtt	12	9	0	2	rs112062072	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169230145C>A	ENST00000256935.8	+	26	2718	c.2638C>A	c.(2638-2640)Ctg>Atg	p.L880M	DOCK2_ENST00000520908.1_Missense_Mutation_p.L372M|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	880					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACACCAGGTCCTGGAGAGGAA	0.498													False	0	False	5:169230145	0	A	169230145	C	A	169230145	3	1	88	1	0	0	0	0	1	0	0	0	4717	680	24	3	2740	3	DOCK2	5	169230145	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91154	169230145	11685115	6625	14337											
DOCK2	1794	broad.mit.edu	37	chr5	169412848	169412848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggacttcttgatggagaCcttcatcatgttcaaggacc	9	10	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169412848C>T	ENST00000256935.8	+	29	2995	c.2915C>T	c.(2914-2916)aCc>aTc	p.T972I	DOCK2_ENST00000520908.1_Missense_Mutation_p.T464I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.T33I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	972	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGATGGAGACCTTCATCATG	0.453													False	0	False	5:169412848	0	T	169412848	C	T	169412848	3	4	88	1	0	0	0	0	1	0	0	0	4717	507	18	2	3029	2	DOCK2	5	169412848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182703	169412848	11502412	6626	14338											
DOCK2	1794	broad.mit.edu	37	chr5	169474616	169474616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggattcccctccttcctgCgggtgagtttgggggtgact	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169474616C>T	ENST00000256935.8	+	40	4149	c.4069C>T	c.(4069-4071)Cgg>Tgg	p.R1357W	DOCK2_ENST00000520908.1_Missense_Mutation_p.R849W|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R418W	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1357	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.R1357W(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCTTCCTGCGGGTGAGTTT	0.542													False	0	True	5:169474616	0	T	169474616	C	T	169474616	3	4	88	1	0	0	0	0	1	0	0	0	4717	759	27	1	4227	1	DOCK2	5	169474616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61768	169474616	11440644	6627	14339											
DOCK2	1794	broad.mit.edu	37	chr5	169503008	169503008	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagggtgtcagataacttgCgacccttccatgaccggatg	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169503008C>T	ENST00000256935.8	+	47	4866	c.4786C>T	c.(4786-4788)Cga>Tga	p.R1596*	DOCK2_ENST00000520908.1_Nonsense_Mutation_p.R1088*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.R657*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1596	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATAACTTGCGACCCTTCCA	0.502													False	0	False	5:169503008	0	T	169503008	C	T	169503008	4	4	88	1	0	0	0	0	0	1	0	0	4717	760	27	1	4972	1	DOCK2	5	169503008	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28392	169503008	11412252	6628	14340											
FOXI1	2299	broad.mit.edu	37	chr5	169533265	169533265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcccagcgtgtcggggCttggggggagcgacctgggc	20	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169533265C>T	ENST00000449804.2	+	1	349	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	FOXI1_ENST00000306268.6_Missense_Mutation_p.L102F	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	102					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTGTCGGGGCTTGGGGGGAG	0.697									Pendred syndrome				False	0	True	5:169533265	0	T	169533265	C	T	169533265	3	4	88	1	0	0	0	0	1	0	0	0	6051	797	28	2	306	2	FOXI1	5	169533265	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30257	169533265	11381995	6629	14341											
LCP2	3937	broad.mit.edu	37	chr5	169685144	169685145	+	In_Frame_Ins	INS	-	-	CAGGCAGAT													gagctcataggaagtagtgcINStggctggggcaaaggtctct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169685144_169685145insCAGGCAGAT	ENST00000046794.5	-	16	1611_1612	c.996_997insATCTGCCTG	c.(994-999)ccagca>ccaATCTGCCTGgca	p.332_333PA>PICLA	LCP2_ENST00000521416.1_In_Frame_Ins_p.127_128PA>PICLA	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	332					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGAAGTAGTGCTGGCTGGGGCA	0.5													False	0	True	5:169685144	0	CAGGCAGAT	169685145	-	CAGGCAGAT	169685144	7	5	88	1	0	1	1	0	0	0	0	0	8743	797	28	0	628	0	LCP2	5	169685144	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	151879	169685144	11230116	6630	14342											
RANBP17	64901	broad.mit.edu	37	chr5	170338133	170338133	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagattccaacaacttggaGaacaagtaagaaaaaacttt	7	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170338133G>T	ENST00000523189.1	+	7	919	c.755G>T	c.(754-756)aGa>aTa	p.R252I		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	252					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACAACTTGGAGAACAAGTAAG	0.373			T	TRD@	ALL								False	0	False	5:170338133	0	T	170338133	G	T	170338133	3	4	88	1	0	0	0	0	1	0	0	0	13106	942	33	3	781	3	RANBP17	5	170338133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	652989	170338133	10577127	6631	14343											
RANBP17	64901	broad.mit.edu	37	chr5	170345732	170345732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttagggtttgtctgatccaGgtaattatcatgaattttgt	9	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170345732G>T	ENST00000523189.1	+	10	1134	c.970G>T	c.(970-972)Ggt>Tgt	p.G324C		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	324					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTGATCCAGGTAATTATCA	0.333			T	TRD@	ALL								False	0	False	5:170345732	0	T	170345732	G	T	170345732	3	4	88	1	0	0	0	0	1	0	0	0	13106	1000	35	3	1008	3	RANBP17	5	170345732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7599	170345732	10569528	6632	14344											
RANBP17	64901	broad.mit.edu	37	chr5	170632528	170632528	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctttcccactgacagCgtatgttgatcgggctggca	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170632528C>T	ENST00000523189.1	+	20	2307	c.2143C>T	c.(2143-2145)Cgt>Tgt	p.R715C	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	715					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.R715S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCACTGACAGCGTATGTTGAT	0.428			T	TRD@	ALL								False	0	False	5:170632528	0	T	170632528	C	T	170632528	5	4	88	1	0	0	0	0	0	0	1	0	13106	782	27	1	2221	1	RANBP17	5	170632528	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286796	170632528	10282732	6633	14345											
RANBP17	64901	broad.mit.edu	37	chr5	170668042	170668042	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtctgccttgtgtggaaatTatgtcagctttggcgtcttc	11	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170668042T>C	ENST00000523189.1	+	23	2697	c.2533T>C	c.(2533-2535)Tat>Cat	p.Y845H	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	845					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGTGGAAATTATGTCAGCTT	0.453			T	TRD@	ALL								False	0	False	5:170668042	0	C	170668042	T	C	170668042	3	2	88	1	0	0	0	0	1	0	0	0	13106	1754	61	4	2623	4	RANBP17	5	170668042	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35514	170668042	10247218	6634	14346											
FGF18	8817	broad.mit.edu	37	chr5	170883635	170883635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaagtactccggctggtaCgtgggcttcaccaagaaggg	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170883635C>T	ENST00000274625.5	+	5	994	c.450C>T	c.(448-450)taC>taT	p.Y150Y		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	150					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGGCTGGTACGTGGGCTTCA	0.622													False	0	False	5:170883635	0	T	170883635	C	T	170883635	2	4	88	1	0	0	0	0	0	0	0	1	5886	547	19	1		1	FGF18	5	170883635	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215593	170883635	10031625	6635	14347											
FBXW11	23291	broad.mit.edu	37	chr5	171305026	171305026	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcactcacctcaccgtagaAtctgaagagccagttacaat	6	12	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171305026A>G	ENST00000296933.6	-	7	1228	c.858T>C	c.(856-858)gaT>gaC	p.D286D	FBXW11_ENST00000425623.2_Silent_p.D267D|FBXW11_ENST00000265094.5_Silent_p.D299D|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Silent_p.D265D	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	299					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACCGTAGAATCTGAAGAGC	0.458													False	0	False	5:171305026	0	G	171305026	A	G	171305026	2	3	88	1	0	0	0	0	0	0	0	1	5804	98	4	4		4	FBXW11	5	171305026	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	421391	171305026	9610234	6636	14348											
FBXW11	23291	broad.mit.edu	37	chr5	171327098	171327098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgctatgtgatctaagCcttgctctacaaaacagaaa	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171327098C>T	ENST00000296933.6	-	4	711	c.341G>A	c.(340-342)gGc>gAc	p.G114D	FBXW11_ENST00000425623.2_Missense_Mutation_p.G95D|FBXW11_ENST00000265094.5_Missense_Mutation_p.G127D|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.G93D	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	127	Homodimerization domain D (By similarity).				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGATCTAAGCCTTGCTCTAC	0.428													False	0	False	5:171327098	0	T	171327098	C	T	171327098	3	4	88	1	0	0	0	0	1	0	0	0	5804	739	26	2	1284	2	FBXW11	5	171327098	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22072	171327098	9588162	6637	14349											
STK10	6793	broad.mit.edu	37	chr5	171532714	171532714	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggttcttatccagggctatCttcaggaagtcacggaactc	11	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171532714C>A	ENST00000176763.5	-	7	1159	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	272	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGGGCTATCTTCAGGAAGT	0.597													False	0	False	5:171532714	0	A	171532714	C	A	171532714	3	1	88	1	0	0	0	0	1	0	0	0	15368	912	32	3	2142	3	STK10	5	171532714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205616	171532714	9382546	6638	14350											
UBTD2	92181	broad.mit.edu	37	chr5	171638856	171638856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttctccactggtgttgggTtctgcacaggttggctcact	12	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171638856T>C	ENST00000393792.2	-	3	1088	c.683A>G	c.(682-684)aAc>aGc	p.N228S		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	228						cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTGTTGGGTTCTGCACAGG	0.478													False	0	True	5:171638856	0	C	171638856	T	C	171638856	3	2	88	1	0	0	0	0	1	0	0	0	16992	1725	60	4	25	4	UBTD2	5	171638856	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106142	171638856	9276404	6639	14351											
UBTD2	92181	broad.mit.edu	37	chr5	171638977	171638977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaccgctgactacctggttCcactccctctgctgcatgca	7	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171638977C>T	ENST00000393792.2	-	3	967	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	188	Ubiquitin-like.					cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTACCTGGTTCCACTCCCTCT	0.488													False	0	False	5:171638977	0	T	171638977	C	T	171638977	3	4	88	1	0	0	0	0	1	0	0	0	16992	864	30	2	146	2	UBTD2	5	171638977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121	171638977	9276283	6640	14352											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171780895	171780895	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagcggctggtacctgAtcttccaccagccttccagg	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171780895A>C	ENST00000311601.5	-	9	952	c.782T>G	c.(781-783)aTc>aGc	p.I261S	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.I261S	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	261	SH3 2.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGGTACCTGATCTTCCACCA	0.602													False	0	False	5:171780895	0	C	171780895	A	C	171780895	3	2	88	1	0	0	0	0	1	0	0	0	14338	333	12	4	1973	4	SH3PXD2B	5	171780895	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	141918	171780895	9134365	6641	14353											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171821594	171821594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcatcaattggtatcagGcgtttgacagccacgtcccg	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171821594G>A	ENST00000311601.5	-	4	452	c.282C>T	c.(280-282)cgC>cgT	p.R94R	SH3PXD2B_ENST00000519643.1_Silent_p.R94R	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	94	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTGGTATCAGGCGTTTGACAG	0.468													False	0	False	5:171821594	0	A	171821594	G	A	171821594	2	1	88	1	0	0	0	0	0	0	0	1	14338	1190	42	2		2	SH3PXD2B	5	171821594	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40699	171821594	9093666	6642	14354											
CPEB4	80315	broad.mit.edu	37	chr5	173316694	173316694	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaggcgtgagacatcagGttgtcattttttattgtgag	11	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173316694G>A	ENST00000265085.5	+	0	1412				CPEB4_ENST00000520867.1_De_novo_Start_InFrame|CPEB4_ENST00000519835.1_De_novo_Start_InFrame|CPEB4_ENST00000334035.5_De_novo_Start_InFrame	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4								nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAGACATCAGGTTGTCATTTT	0.378													False	0	False	5:173316694	0	A	173316694	G	A	173316694	1	1	88	1	0	0	0	0	0	0	0	0	3826	1276	44	2		2	CPEB4	5	173316694	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1495100	173316694	7598566	6643	14355											
CPEB4	80315	broad.mit.edu	37	chr5	173316988	173316988	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagcaaaaagtcagcaAcaggaacagcaagacccctt	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173316988A>G	ENST00000265085.5	+	1	1706	c.252A>G	c.(250-252)caA>caG	p.Q84Q	CPEB4_ENST00000520867.1_Silent_p.Q84Q|CPEB4_ENST00000519835.1_Silent_p.Q84Q|CPEB4_ENST00000334035.5_Silent_p.Q84Q	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	84							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAAGTCAGCAACAGGAACAGC	0.483													False	0	False	5:173316988	0	G	173316988	A	G	173316988	2	3	88	1	0	0	0	0	0	0	0	1	3826	40	2	4		4	CPEB4	5	173316988	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	294	173316988	7598272	6644	14356											
CPEB4	80315	broad.mit.edu	37	chr5	173378900	173378900	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagccacttgacccacgaaAaactatatttgttggtggtg	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173378900A>C	ENST00000265085.5	+	8	3193	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T	CPEB4_ENST00000520867.1_Missense_Mutation_p.K555T|CPEB4_ENST00000519835.1_Missense_Mutation_p.K555T|CPEB4_ENST00000522336.1_Missense_Mutation_p.K190T|CPEB4_ENST00000334035.5_Missense_Mutation_p.K563T|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000517880.1_Missense_Mutation_p.K173T	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	580	RRM 2.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GACCCACGAAAAACTATATTT	0.428													False	0	True	5:173378900	0	C	173378900	A	C	173378900	3	2	88	1	0	0	0	0	1	0	0	0	3826	14	1	4	1769	4	CPEB4	5	173378900	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61912	173378900	7536360	6645	14357											
DRD1	1812	broad.mit.edu	37	chr5	174869427	174869427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaggccgcaatgcgccGtatttgtttctgagcaatcc	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174869427G>A	ENST00000393752.2	-	2	1668	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	226					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GCAATGCGCCGTATTTGTTTC	0.493													False	0	False	5:174869427	0	A	174869427	G	A	174869427	3	1	88	1	0	0	0	0	1	0	0	0	4786	1144	40	1	668	1	DRD1	5	174869427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1490527	174869427	6045833	6646	14358											
DRD1	1812	broad.mit.edu	37	chr5	174869930	174869930	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgacaaagaagttggtcAccttggaccgcaggtgtcgg	14	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174869930A>G	ENST00000393752.2	-	2	1165	c.173T>C	c.(172-174)gTg>gCg	p.V58A		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	58					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GAAGTTGGTCACCTTGGACCG	0.587													False	0	False	5:174869930	0	G	174869930	A	G	174869930	3	3	88	1	0	0	0	0	1	0	0	0	4786	159	6	4	1171	4	DRD1	5	174869930	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	503	174869930	6045330	6647	14359											
SFXN1	94081	broad.mit.edu	37	chr5	174919199	174919199	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaatcatttcttcactgtAactgaccccaggaacattct	5	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174919199A>C	ENST00000321442.5	+	2	347	c.93A>C	c.(91-93)gtA>gtC	p.V31V	SFXN1_ENST00000502393.1_Silent_p.V31V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	31					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTCACTGTAACTGACCCCA	0.403													False	0	False	5:174919199	0	C	174919199	A	C	174919199	2	2	88	1	0	0	0	0	0	0	0	1	14275	349	13	4		4	SFXN1	5	174919199	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49269	174919199	5996061	6648	14360											
SFXN1	94081	broad.mit.edu	37	chr5	174937166	174937166	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccagtccttcaatgccgtCgtcaattacaccaacagaag	6	13	2	1	rs146805862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174937166C>T	ENST00000321442.5	+	4	644	c.390C>T	c.(388-390)gtC>gtT	p.V130V	SFXN1_ENST00000502393.1_Silent_p.V130V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	130					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCAATGCCGTCGTCAATTACA	0.502													False	0	False	5:174937166	0	T	174937166	C	T	174937166	2	4	88	1	0	0	0	0	0	0	0	1	14275	871	31	1		1	SFXN1	5	174937166	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17967	174937166	5978094	6649	14361											
SFXN1	94081	broad.mit.edu	37	chr5	174940559	174940559	+	Silent	SNP	C	C	T													caagccatcacgcaagttgtCgtgtccaggattctcatggc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174940559C>T	ENST00000321442.5	+	7	944	c.690C>T	c.(688-690)gtC>gtT	p.V230V		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	230					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGCAAGTTGTCGTGTCCAGGA	0.532													False	0	False	5:174940559	0	T	174940559	C	T	174940559	2	4	88	1	0	0	0	0	0	0	0	1	14275	871	31	1		1	SFXN1	5	174940559	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3393	174940559	5974701	6650	14362	183	2									
SFXN1	94081	broad.mit.edu	37	chr5	174940564	174940564	+	Missense_Mutation	SNP	C	C	T													catcacgcaagttgtcgtgtCcaggattctcatggcagccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174940564C>T	ENST00000321442.5	+	7	949	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	232					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTTGTCGTGTCCAGGATTCTC	0.522													False	0	False	5:174940564	0	T	174940564	C	T	174940564	3	4	88	1	0	0	0	0	1	0	0	0	14275	855	30	2	717	2	SFXN1	5	174940564	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	174940564	5974696	6651	14363	183	2									
HRH2	0	broad.mit.edu	37	chr5	175110665	175110665	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctctctggtcttaatttgGgtcatctccattaccctgtc	6	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175110665G>T	ENST00000231683.2	+	1	2202	c.429G>T	c.(427-429)tgG>tgT	p.W143C	HRH2_ENST00000377291.2_Missense_Mutation_p.W143C	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	143					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	TCTTAATTTGGGTCATCTCCA	0.552													False	0	True	5:175110665	0	T	175110665	G	T	175110665	3	4	88	1	0	0	0	0	1	0	0	0	7403	1241	43	3	431	3	HRH2	5	175110665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170101	175110665	5804595	6652	14364											
HRH2	0	broad.mit.edu	37	chr5	175110875	175110875	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcgcccgggatcaggcCaagaggatcaatcacattag	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175110875C>A	ENST00000231683.2	+	1	2412	c.639C>A	c.(637-639)gcC>gcA	p.A213A	HRH2_ENST00000377291.2_Silent_p.A213A	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	213					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GGGATCAGGCCAAGAGGATCA	0.572													False	0	False	5:175110875	0	A	175110875	C	A	175110875	2	1	88	1	0	0	0	0	0	0	0	1	7403	581	21	3		3	HRH2	5	175110875	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210	175110875	5804385	6653	14365											
KIAA1191	57179	broad.mit.edu	37	chr5	175774795	175774795	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgggctcctcggtaggcCtgggtggcaaaacttcctac	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175774795C>A	ENST00000298569.4	-	9	1259	c.726G>T	c.(724-726)caG>caT	p.Q242H	KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Missense_Mutation_p.Q242H|KIAA1191_ENST00000393725.2_Missense_Mutation_p.Q223H	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	242							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		CTCGGTAGGCCTGGGTGGCAA	0.512													False	0	False	5:175774795	0	A	175774795	C	A	175774795	3	1	88	1	0	0	0	0	1	0	0	0	8262	680	24	3	195	3	KIAA1191	5	175774795	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	663920	175774795	5140465	6654	14366											
ARL10	285598	broad.mit.edu	37	chr5	175798762	175798762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtatgggggagctgcagcGggagctgggtctacaggcta	19	7	1	0	rs148633924	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175798762G>A	ENST00000310389.5	+	4	695	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	200							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GAGCTGCAGCGGGAGCTGGGT	0.587													False	0	True	5:175798762	0	A	175798762	G	A	175798762	3	1	88	1	0	0	0	0	1	0	0	0	928	1116	39	1	613	1	ARL10	5	175798762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23967	175798762	5116498	6655	14367											
CLTB	1212	broad.mit.edu	37	chr5	175843361	175843361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagccaaagtcatcagCcattttccccgcgcctccgc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175843361C>T	ENST00000310418.4	-	1	209	c.4G>A	c.(4-6)Gct>Act	p.A2T	CLTB_ENST00000345807.2_Missense_Mutation_p.A2T	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	2					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		AAGTCATCAGCCATTTTCCCC	0.746													False	0	False	5:175843361	0	T	175843361	C	T	175843361	3	4	88	1	0	0	0	0	1	0	0	0	3588	739	26	2	709	2	CLTB	5	175843361	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44599	175843361	5071899	6656	14368											
FAF2	23197	broad.mit.edu	37	chr5	175913437	175913437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcacgacccctgcaggttAatacagctgaccacaggatc	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175913437A>G	ENST00000261942.6	+	3	267	c.214A>G	c.(214-216)Aat>Gat	p.N72D	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	72					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CCTGCAGGTTAATACAGCTGA	0.458													False	0	False	5:175913437	0	G	175913437	A	G	175913437	3	3	88	1	0	0	0	0	1	0	0	0	5406	362	13	4	224	4	FAF2	5	175913437	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70076	175913437	5001823	6657	14369											
FAF2	23197	broad.mit.edu	37	chr5	175921013	175921013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaggcacttaacgatgCcaaaagggagcttcgctttc	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175921013C>A	ENST00000261942.6	+	6	550	c.497C>A	c.(496-498)gCc>gAc	p.A166D		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	166					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CTTAACGATGCCAAAAGGGAG	0.403													False	0	False	5:175921013	0	A	175921013	C	A	175921013	3	1	88	1	0	0	0	0	1	0	0	0	5406	739	26	3	519	3	FAF2	5	175921013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7576	175921013	4994247	6658	14370											
CDHR2	54825	broad.mit.edu	37	chr5	176004439	176004439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttgtcgctggggggccccGatgcagaagccttcagcgtc	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176004439G>A	ENST00000510636.1	+	13	1508	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	CDHR2_ENST00000506348.1_Missense_Mutation_p.D412N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D412N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	412	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGGGGGCCCCGATGCAGAAGC	0.647													False	0	True	5:176004439	0	A	176004439	G	A	176004439	3	1	88	1	0	0	0	0	1	0	0	0	3142	1058	37	1	1280	1	CDHR2	5	176004439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83426	176004439	4910821	6659	14371											
CDHR2	54825	broad.mit.edu	37	chr5	176004468	176004468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttcagcgtctccccggaGcgggcagtgggctcagcctc	14	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176004468G>T	ENST00000510636.1	+	13	1537	c.1263G>T	c.(1261-1263)gaG>gaT	p.E421D	CDHR2_ENST00000506348.1_Missense_Mutation_p.E421D|CDHR2_ENST00000261944.5_Missense_Mutation_p.E421D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	421	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCCCCGGAGCGGGCAGTGG	0.652													False	0	False	5:176004468	0	T	176004468	G	T	176004468	3	4	88	1	0	0	0	0	1	0	0	0	3142	962	34	3	1309	3	CDHR2	5	176004468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	176004468	4910792	6660	14372											
CDHR2	54825	broad.mit.edu	37	chr5	176005098	176005098	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctcccaggaaatgggTaagggctcagggtgggccgt	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176005098T>C	ENST00000510636.1	+	15	1848		c.e15+2		CDHR2_ENST00000506348.1_Splice_Site|CDHR2_ENST00000261944.5_Splice_Site	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2						homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGGAAATGGGTAAGGGCTCAG	0.637													False	0	True	5:176005098	0	C	176005098	T	C	176005098	5	2	88	1	0	0	0	0	0	0	1	0	3142	1652	57	4	1630	4	CDHR2	5	176005098	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	630	176005098	4910162	6661	14373											
CDHR2	54825	broad.mit.edu	37	chr5	176016537	176016537	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccttcccagctcttcacCgtggaccagagttaccgctc	7	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176016537C>T	ENST00000510636.1	+	24	3400	c.3126C>T	c.(3124-3126)acC>acT	p.T1042T	CDHR2_ENST00000506348.1_Silent_p.T1042T|CDHR2_ENST00000261944.5_Silent_p.T1042T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1042	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGCTCTTCACCGTGGACCAGA	0.652													False	0	False	5:176016537	0	T	176016537	C	T	176016537	2	4	88	1	0	0	0	0	0	0	0	1	3142	639	23	1		1	CDHR2	5	176016537	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11439	176016537	4898723	6662	14374											
CDHR2	54825	broad.mit.edu	37	chr5	176019739	176019739	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcgtcaactccctggaCgacaactctgtggatgtgga	11	11	2	0	rs139924459	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176019739C>T	ENST00000510636.1	+	31	4024	c.3750C>T	c.(3748-3750)gaC>gaT	p.D1250D	CDHR2_ENST00000506348.1_Silent_p.D1250D|CDHR2_ENST00000261944.5_Silent_p.D1250D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1250					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACTCCCTGGACGACAACTCTG	0.547													False	0	False	5:176019739	0	T	176019739	C	T	176019739	2	4	88	1	0	0	0	0	0	0	0	1	3142	535	19	1		1	CDHR2	5	176019739	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3202	176019739	4895521	6663	14375											
SNCB	6620	broad.mit.edu	37	chr5	176053475	176053475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgccccagagaacacaGctcctcccagatgtgaggcc	9	17	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176053475G>A	ENST00000310112.3	-	5	456	c.206C>T	c.(205-207)gCt>gTt	p.A69V	SNCB_ENST00000510387.1_Missense_Mutation_p.A69V|SNCB_ENST00000393693.2_Missense_Mutation_p.A69V|SNCB_ENST00000506696.1_Missense_Mutation_p.A69V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	69							calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAACACAGCTCCTCCCAG	0.582													False	0	False	5:176053475	0	A	176053475	G	A	176053475	3	1	88	1	0	0	0	0	1	0	0	0	14922	971	34	2	210	2	SNCB	5	176053475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33736	176053475	4861785	6664	14376											
TSPAN17	26262	broad.mit.edu	37	chr5	176083112	176083112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacccagtgtggctacgacGtccggctcaaactggtgaga	12	12	1	1	rs142689576	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176083112G>A	ENST00000298564.10	+	3	441	c.292G>A	c.(292-294)Gtc>Atc	p.V98I	TSPAN17_ENST00000503045.1_Missense_Mutation_p.V183I|TSPAN17_ENST00000405525.2_Missense_Mutation_p.V206I|TSPAN17_ENST00000515708.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000508164.1_Missense_Mutation_p.V206I|TSPAN17_ENST00000310032.8_Missense_Mutation_p.V206I			Q96FV3	TSN17_HUMAN	tetraspanin 17	206						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCTACGACGTCCGGCTCAA	0.607													False	0	False	5:176083112	0	A	176083112	G	A	176083112	3	1	88	1	0	0	0	0	1	0	0	0	16724	1145	40	1	638	1	TSPAN17	5	176083112	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29637	176083112	4832148	6665	14377											
UNC5A	90249	broad.mit.edu	37	chr5	176304689	176304689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcaaaaagcagtcgtgCgagggcagctgggaggtgag	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176304689C>T	ENST00000329542.4	+	10	1894	c.1620C>T	c.(1618-1620)tgC>tgT	p.C540C	UNC5A_ENST00000261961.3_Silent_p.C500C	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	540	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAGTCGTGCGAGGGCAGCT	0.672													False	0	False	5:176304689	0	T	176304689	C	T	176304689	2	4	88	1	0	0	0	0	0	0	0	1	17075	776	27	1		1	UNC5A	5	176304689	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221577	176304689	4610571	6666	14378											
UNC5A	90249	broad.mit.edu	37	chr5	176306485	176306485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcccagaaactccacctgGacaggtgggcgggagagggg	18	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176306485G>A	ENST00000329542.4	+	14	2633	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	UNC5A_ENST00000261961.3_Missense_Mutation_p.D747N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	787	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCCACCTGGACAGGTGGGC	0.677													False	0	False	5:176306485	0	A	176306485	G	A	176306485	3	1	88	1	0	0	0	0	1	0	0	0	17075	1174	41	2	2413	2	UNC5A	5	176306485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1796	176306485	4608775	6667	14379											
HK3	3101	broad.mit.edu	37	chr5	176308126	176308126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcggtgaccagggccGcacctttgccggacccatcc	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176308126G>A	ENST00000292432.5	-	19	2811	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	907	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCAGGGCCGCACCTTTGCC	0.662													False	0	False	5:176308126	0	A	176308126	G	A	176308126	3	1	88	1	0	0	0	0	1	0	0	0	7239	1087	38	1	55	1	HK3	5	176308126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1641	176308126	4607134	6668	14380											
HK3	3101	broad.mit.edu	37	chr5	176317669	176317669	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggcatctctcagcagctgGaccacatcctggccttccac	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176317669G>A	ENST00000292432.5	-	6	688	c.597C>T	c.(595-597)gtC>gtT	p.V199V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	199	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGCAGCTGGACCACATCCT	0.607													False	0	False	5:176317669	0	A	176317669	G	A	176317669	2	1	88	1	0	0	0	0	0	0	0	1	7239	1161	41	2		2	HK3	5	176317669	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9543	176317669	4597591	6669	14381											
HK3	3101	broad.mit.edu	37	chr5	176318184	176318184	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagctccagcaccacgaagtCtccttgctctggagggcaag	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176318184C>A	ENST00000292432.5	-	4	359	c.268G>T	c.(268-270)Gac>Tac	p.D90Y		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	90	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCACGAAGTCTCCTTGCTCT	0.592													False	0	False	5:176318184	0	A	176318184	C	A	176318184	3	1	88	1	0	0	0	0	1	0	0	0	7239	913	32	3	2567	3	HK3	5	176318184	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	515	176318184	4597076	6670	14382											
ZNF346	23567	broad.mit.edu	37	chr5	176477887	176477887	+	Missense_Mutation	SNP	T	T	C													acaggagaccaagctcaaacTaatggcacgctatgggcggc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176477887T>C	ENST00000503039.1	+	6	732	c.728T>C	c.(727-729)cTa>cCa	p.L243P	ZNF346_ENST00000503425.1_Missense_Mutation_p.L186P|ZNF346_ENST00000511834.1_Missense_Mutation_p.L234P|ZNF346_ENST00000506693.1_Missense_Mutation_p.L120P|ZNF346_ENST00000261948.4_Missense_Mutation_p.L243P|ZNF346_ENST00000358149.3_Missense_Mutation_p.L218P|ZNF346_ENST00000512315.1_Intron			Q9UL40	ZN346_HUMAN	zinc finger protein 346	218						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCTCAAACTAATGGCACGC	0.552													False	0	False	5:176477887	0	C	176477887	T	C	176477887	3	2	88	1	0	0	0	0	1	0	0	0	17943	1522	53	4	671	4	ZNF346	5	176477887	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	159703	176477887	4437373	6671	14383	184	2									
ZNF346	23567	broad.mit.edu	37	chr5	176477892	176477892	+	Missense_Mutation	SNP	G	G	A													agaccaagctcaaactaatgGcacgctatgggcggctggcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176477892G>A	ENST00000503039.1	+	6	737	c.733G>A	c.(733-735)Gca>Aca	p.A245T	ZNF346_ENST00000503425.1_Missense_Mutation_p.A188T|ZNF346_ENST00000511834.1_Missense_Mutation_p.A236T|ZNF346_ENST00000506693.1_Missense_Mutation_p.A122T|ZNF346_ENST00000261948.4_Missense_Mutation_p.A245T|ZNF346_ENST00000358149.3_Missense_Mutation_p.A220T|ZNF346_ENST00000512315.1_Intron			Q9UL40	ZN346_HUMAN	zinc finger protein 346	220						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAACTAATGGCACGCTATGG	0.562													False	0	False	5:176477892	0	A	176477892	G	A	176477892	3	1	88	1	0	0	0	0	1	0	0	0	17943	1203	42	2	676	2	ZNF346	5	176477892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	176477892	4437368	6672	14384	184	2									
FGFR4	2264	broad.mit.edu	37	chr5	176518013	176518013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggaacaccgtcaagttcCgctgtccagctgcaggcaac	12	14	1	0	rs139464025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176518013C>T	ENST00000292408.4	+	5	756	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	FGFR4_ENST00000502906.1_Missense_Mutation_p.R171C|FGFR4_ENST00000393648.2_Missense_Mutation_p.R171C|FGFR4_ENST00000393637.1_Missense_Mutation_p.R171C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R171C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	171	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CGTCAAGTTCCGCTGTCCAGC	0.612										TSP Lung(9;0.080)			False	0	False	5:176518013	0	T	176518013	C	T	176518013	3	4	88	1	0	0	0	0	1	0	0	0	5908	652	23	1	525	1	FGFR4	5	176518013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40121	176518013	4397247	6673	14385											
FGFR4	2264	broad.mit.edu	37	chr5	176522351	176522351	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacgcctctgacaaggacCtggccgacctggtctcggag	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176522351C>A	ENST00000292408.4	+	12	1785	c.1540C>A	c.(1540-1542)Ctg>Atg	p.L514M	FGFR4_ENST00000502906.1_Missense_Mutation_p.L514M|FGFR4_ENST00000393648.2_Missense_Mutation_p.L446M|FGFR4_ENST00000393637.1_Missense_Mutation_p.L474M|FGFR4_ENST00000292410.3_Missense_Mutation_p.L474M	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	514	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TGACAAGGACCTGGCCGACCT	0.602										TSP Lung(9;0.080)			False	0	False	5:176522351	0	A	176522351	C	A	176522351	3	1	88	1	0	0	0	0	1	0	0	0	5908	680	24	3	1652	3	FGFR4	5	176522351	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4338	176522351	4392909	6674	14386											
NSD1	64324	broad.mit.edu	37	chr5	176638654	176638654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaggtggggcagaagatcCtagtaaagaggatccccttc	14	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176638654C>A	ENST00000439151.2	+	5	3299	c.3254C>A	c.(3253-3255)cCt>cAt	p.P1085H	NSD1_ENST00000347982.4_Missense_Mutation_p.P816H|NSD1_ENST00000354179.4_Missense_Mutation_p.P816H|NSD1_ENST00000361032.4_Missense_Mutation_p.P982H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1085					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCAGAAGATCCTAGTAAAGAG	0.453			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			False	0	False	5:176638654	0	A	176638654	C	A	176638654	3	1	88	1	0	0	0	0	1	0	0	0	10737	681	24	3	3268	3	NSD1	5	176638654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116303	176638654	4276606	6675	14387											
NSD1	64324	broad.mit.edu	37	chr5	176639155	176639155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgacatggaaaaggagccagGaattcccagtttgacaccac	10	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176639155G>A	ENST00000439151.2	+	5	3800	c.3755G>A	c.(3754-3756)gGa>gAa	p.G1252E	NSD1_ENST00000347982.4_Missense_Mutation_p.G983E|NSD1_ENST00000354179.4_Missense_Mutation_p.G983E|NSD1_ENST00000361032.4_Missense_Mutation_p.G1149E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1252					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGGAGCCAGGAATTCCCAGT	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			False	0	False	5:176639155	0	A	176639155	G	A	176639155	3	1	88	1	0	0	0	0	1	0	0	0	10737	1174	41	2	3769	2	NSD1	5	176639155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	501	176639155	4276105	6676	14388											
NSD1	64324	broad.mit.edu	37	chr5	176722104	176722104	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccccgggcctggtgaagCaggcgaagcagatggtcgga	16	10	0	2	rs142579918	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176722104C>T	ENST00000439151.2	+	23	7780	c.7735C>T	c.(7735-7737)Cag>Tag	p.Q2579*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q2310*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q2476*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q2310*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2579				PGPLSQSPGLVKQAKQMVGGQQLPA -> QGFFTKSPALVE NKGKTKWVGRPTNYLH (in Ref. 3; AAK92049).	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTGGTGAAGCAGGCGAAGCA	0.607			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			False	0	False	5:176722104	0	T	176722104	C	T	176722104	4	4	88	1	0	0	0	0	0	1	0	0	10737	711	25	2	7821	2	NSD1	5	176722104	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82949	176722104	4193156	6677	14389											
RAB24	53917	broad.mit.edu	37	chr5	176729783	176729783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatggcagccttggcaccccGatagtagattctactcatgg	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176729783G>A	ENST00000303270.6	-	2	750	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	RAB24_ENST00000393611.2_Missense_Mutation_p.R79W|RAB24_ENST00000303251.6_Missense_Mutation_p.R79W			Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	79					autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGCACCCCGATAGTAGATT	0.562													False	0	True	5:176729783	0	A	176729783	G	A	176729783	3	1	88	1	0	0	0	0	1	0	0	0	12990	1057	37	1	400	1	RAB24	5	176729783	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7679	176729783	4185477	6678	14390											
LMAN2	10960	broad.mit.edu	37	chr5	176764242	176764242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgttcttgtcctccaggtCggtcatcacctgcagggccc	10	16	3	0	rs142614645		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176764242C>T	ENST00000303127.7	-	6	889	c.685G>A	c.(685-687)Gac>Aac	p.D229N	LMAN2_ENST00000515209.1_Missense_Mutation_p.D229N	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	229	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTCCAGGTCGGTCATCACC	0.662													False	0	True	5:176764242	0	T	176764242	C	T	176764242	3	4	88	1	0	0	0	0	1	0	0	0	8891	884	31	1	397	1	LMAN2	5	176764242	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34459	176764242	4151018	6679	14391											
LMAN2	10960	broad.mit.edu	37	chr5	176778195	176778195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggttccagatagagccCtctttgctgcgctcgtcagg	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176778195C>T	ENST00000303127.7	-	2	498	c.294G>A	c.(292-294)gaG>gaA	p.E98E	LMAN2_ENST00000515209.1_Silent_p.E98E|LMAN2_ENST00000506310.1_5'UTR	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	98	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATAGAGCCCTCTTTGCTGC	0.607													False	0	True	5:176778195	0	T	176778195	C	T	176778195	2	4	88	1	0	0	0	0	0	0	0	1	8891	680	24	2		2	LMAN2	5	176778195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13953	176778195	4137065	6680	14392											
RGS14	10636	broad.mit.edu	37	chr5	176785034	176785034	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atcggcagcggcatgccaggGaagcccaagcacctgggcgt	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176785034G>T	ENST00000408923.3	+	1	197	c.9G>T	c.(7-9)ggG>ggT	p.G3G		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	3					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCATGCCAGGGAAGCCCAAGC	0.751													False	0	True	5:176785034	0	T	176785034	G	T	176785034	2	4	88	1	0	0	0	0	0	0	0	1	13376	1161	41	3		3	RGS14	5	176785034	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6839	176785034	4130226	6681	14393											
RGS14	10636	broad.mit.edu	37	chr5	176795177	176795177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgggcgggactgcaaaCgccgccttgcgccgagagtc	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176795177C>T	ENST00000408923.3	+	8	947	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	253					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACTGCAAACGCCGCCTTGC	0.647													False	0	True	5:176795177	0	T	176795177	C	T	176795177	2	4	88	1	0	0	0	0	0	0	0	1	13376	535	19	1		1	RGS14	5	176795177	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10143	176795177	4120083	6682	14394											
SLC34A1	6569	broad.mit.edu	37	chr5	176813105	176813105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccatgaaccactgcctgCcaagctggccctggaggagg	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176813105C>T	ENST00000324417.5	+	3	318	c.227C>T	c.(226-228)gCc>gTc	p.A76V	SLC34A1_ENST00000512593.1_Missense_Mutation_p.A76V	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	76					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACTGCCTGCCAAGCTGGCC	0.687													False	0	True	5:176813105	0	T	176813105	C	T	176813105	3	4	88	1	0	0	0	0	1	0	0	0	14647	739	26	2	233	2	SLC34A1	5	176813105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17928	176813105	4102155	6683	14395											
SLC34A1	6569	broad.mit.edu	37	chr5	176813505	176813505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtggggatcctggtgaCcgtgctggtgcagagctcca	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176813505C>T	ENST00000324417.5	+	5	561	c.470C>T	c.(469-471)aCc>aTc	p.T157I	SLC34A1_ENST00000512593.1_Missense_Mutation_p.T157I	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	157					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCTGGTGACCGTGCTGGTG	0.627													False	0	False	5:176813505	0	T	176813505	C	T	176813505	3	4	88	1	0	0	0	0	1	0	0	0	14647	507	18	2	484	2	SLC34A1	5	176813505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	400	176813505	4101755	6684	14396											
SLC34A1	6569	broad.mit.edu	37	chr5	176820710	176820710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaggctcccacctccatgTccagagcagaggccaactcc	8	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176820710T>C	ENST00000324417.5	+	9	1043	c.952T>C	c.(952-954)Tcc>Ccc	p.S318P	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	318					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTCCATGTCCAGAGCAGA	0.557													False	0	False	5:176820710	0	C	176820710	T	C	176820710	3	2	88	1	0	0	0	0	1	0	0	0	14647	1667	58	4	1073	4	SLC34A1	5	176820710	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7205	176820710	4094550	6685	14397											
F12	2161	broad.mit.edu	37	chr5	176830605	176830605	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccgagcaccaccgtcagatCctcgggtgcgggcctgcggg	16	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176830605C>A	ENST00000253496.3	-	11	1312	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	422	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCGTCAGATCCTCGGGTGCG	0.692									Hereditary Angioedema				False	0	False	5:176830605	0	A	176830605	C	A	176830605	3	1	88	1	0	0	0	0	1	0	0	0	5372	855	30	3	599	3	F12	5	176830605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9895	176830605	4084655	6686	14398											
GRK6	2870	broad.mit.edu	37	chr5	176859018	176859018	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgactatcacagcctgtgCgagcggcagcccattgggcg	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176859018C>T	ENST00000355472.5	+	3	339	c.171C>T	c.(169-171)tgC>tgT	p.C57C	GRK6_ENST00000528793.1_Silent_p.C57C|GRK6_ENST00000507633.1_Silent_p.C57C|GRK6_ENST00000393576.3_Silent_p.C57C|GRK6_ENST00000355958.5_Silent_p.C57C	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	57	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCCTGTGCGAGCGGCAGC	0.657													False	0	False	5:176859018	0	T	176859018	C	T	176859018	2	4	88	1	0	0	0	0	0	0	0	1	6840	776	27	1		1	GRK6	5	176859018	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28413	176859018	4056242	6687	14399											
GRK6	2870	broad.mit.edu	37	chr5	176860543	176860543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctggccacaggtgtgcGcctgccaggtgcgggccaca	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176860543G>A	ENST00000355472.5	+	8	772	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	GRK6_ENST00000528793.1_Missense_Mutation_p.A202T|GRK6_ENST00000507633.1_Missense_Mutation_p.A202T|GRK6_ENST00000393576.3_Missense_Mutation_p.A202T|GRK6_ENST00000355958.5_Missense_Mutation_p.A202T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	202	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGTGTGCGCCTGCCAGGT	0.602													False	0	False	5:176860543	0	A	176860543	G	A	176860543	3	1	88	1	0	0	0	0	1	0	0	0	6840	1087	38	1	634	1	GRK6	5	176860543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1525	176860543	4054717	6688	14400											
GRK6	2870	broad.mit.edu	37	chr5	176867757	176867757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacagttctctacggtcaaGggcgtggagctggagcctac	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176867757G>A	ENST00000355472.5	+	14	1629	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	GRK6_ENST00000528793.1_Silent_p.K487K|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000393576.3_Silent_p.K453K|GRK6_ENST00000355958.5_Silent_p.K487K	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	487	AGC-kinase C-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACGGTCAAGGGCGTGGAGC	0.587													False	0	True	5:176867757	0	A	176867757	G	A	176867757	2	1	88	1	0	0	0	0	0	0	0	1	6840	991	35	2		2	GRK6	5	176867757	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7214	176867757	4047503	6689	14401											
DBN1	1627	broad.mit.edu	37	chr5	176885542	176885542	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctccacgggagcagccagGacagcctgctctgcagactc	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176885542G>A	ENST00000292385.5	-	13	1908	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V	DBN1_ENST00000393563.4_Silent_p.V163V|DBN1_ENST00000309007.5_Silent_p.V431V|DBN1_ENST00000393565.1_Silent_p.V477V|DBN1_ENST00000512501.1_Silent_p.V163V	NM_080881.2	NP_543157	Q16643	DREB_HUMAN	drebrin 1	431					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCAGCCAGGACAGCCTGCT	0.647													False	0	False	5:176885542	0	A	176885542	G	A	176885542	2	1	88	1	0	0	0	0	0	0	0	1	4277	1161	41	2		2	DBN1	5	176885542	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17785	176885542	4029718	6690	14402											
DBN1	1627	broad.mit.edu	37	chr5	176886221	176886221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtcagacgggctccgcGtggggatgggagtgggcgcc	21	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176886221G>A	ENST00000292385.5	-	12	1619	c.1010C>T	c.(1009-1011)aCg>aTg	p.T337M	DBN1_ENST00000393563.4_Missense_Mutation_p.T67M|DBN1_ENST00000309007.5_Missense_Mutation_p.T335M|DBN1_ENST00000393565.1_Missense_Mutation_p.T381M|DBN1_ENST00000512501.1_Missense_Mutation_p.T67M	NM_080881.2	NP_543157	Q16643	DREB_HUMAN	drebrin 1	335					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGCTCCGCGTGGGGATGGG	0.687													False	0	False	5:176886221	0	A	176886221	G	A	176886221	3	1	88	1	0	0	0	0	1	0	0	0	4277	1145	40	1	961	1	DBN1	5	176886221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	679	176886221	4029039	6691	14403											
DOK3	79930	broad.mit.edu	37	chr5	176931297	176931297	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcatagaggtgctcattgCctgggggcccactggcacgc	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176931297C>A	ENST00000501403.2	-	6	1359	c.1010G>T	c.(1009-1011)gGc>gTc	p.G337V	DOK3_ENST00000377112.4_Intron|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000357198.4_Missense_Mutation_p.G393V			Q7L591	DOK3_HUMAN	docking protein 3	393	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GTGCTCATTGCCTGGGGGCCC	0.697													False	0	False	5:176931297	0	A	176931297	C	A	176931297	3	1	88	1	0	0	0	0	1	0	0	0	4728	739	26	3	668	3	DOK3	5	176931297	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45076	176931297	3983963	6692	14404											
DDX41	51428	broad.mit.edu	37	chr5	176940011	176940011	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggcctggctgcactcaCaggcgggggtgtcttctgca	15	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176940011C>T	ENST00000507955.1	-	12	1826		c.e12+1			NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41						apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCTGCACTCACAGGCGGGGGT	0.637													False	0	False	5:176940011	0	T	176940011	C	T	176940011	5	4	88	1	0	0	0	0	0	0	1	0	4386	492	17	2	589	2	DDX41	5	176940011	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8714	176940011	3975249	6693	14405											
FAM193B	54540	broad.mit.edu	37	chr5	176951655	176951655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttgagcttggctcctcGgagctggggtagcccggctt	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176951655G>A	ENST00000329540.5	-	9	3534	c.705C>T	c.(703-705)tcC>tcT	p.S235S	FAM193B_ENST00000443375.2_Silent_p.S576S|FAM193B_ENST00000514747.1_Silent_p.S609S			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	285										kidney(1)|large_intestine(3)	4						TTGGCTCCTCGGAGCTGGGGT	0.617													False	0	False	5:176951655	0	A	176951655	G	A	176951655	2	1	88	1	0	0	0	0	0	0	0	1	5561	1103	39	1		1	FAM193B	5	176951655	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11644	176951655	3963605	6694	14406											
FAM193B	54540	broad.mit.edu	37	chr5	176959576	176959576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccctcatctgcctcGcagggctggggcagctggca	13	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176959576G>A	ENST00000443375.2	-	6	2362	c.804C>T	c.(802-804)tgC>tgT	p.C268C	FAM193B_ENST00000514747.1_Silent_p.C381C|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000508298.1_5'UTR			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	406										kidney(1)|large_intestine(3)	4						CATCTGCCTCGCAGGGCTGGG	0.617													False	0	False	5:176959576	0	A	176959576	G	A	176959576	2	1	88	1	0	0	0	0	0	0	0	1	5561	1079	38	1		1	FAM193B	5	176959576	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7921	176959576	3955684	6695	14407											
B4GALT7	11285	broad.mit.edu	37	chr5	177034312	177034312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgcacaggttcaaccgGgcagcgctcatcaacgtggg	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177034312G>A	ENST00000029410.5	+	3	534	c.423G>A	c.(421-423)cgG>cgA	p.R141R		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	141					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTCAACCGGGCAGCGCTCA	0.647											OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	5:177034312	0	A	177034312	G	A	177034312	2	1	88	1	0	0	0	0	0	0	0	1	1280	1219	43	2		2	B4GALT7	5	177034312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74736	177034312	3880948	6696	14408											
PROP1	5626	broad.mit.edu	37	chr5	177419780	177419780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggggcagggcagatggCcggcaggggctgggtgcaag	24	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177419780C>T	ENST00000308304.2	-	3	919	c.611G>A	c.(610-612)gGc>gAc	p.G204D		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	204					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCAGATGGCCGGCAGGGGC	0.627													False	0	False	5:177419780	0	T	177419780	C	T	177419780	3	4	88	1	0	0	0	0	1	0	0	0	12633	739	26	2	73	2	PROP1	5	177419780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385468	177419780	3495480	6697	14409											
PROP1	5626	broad.mit.edu	37	chr5	177421242	177421242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtggtgcggtggcggcgCcgggagtgcgggcggcccct	22	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177421242C>T	ENST00000308304.2	-	2	515	c.207G>A	c.(205-207)cgG>cgA	p.R69R		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	69					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGGCGGCGCCGGGAGTGCG	0.657													False	0	False	5:177421242	0	T	177421242	C	T	177421242	2	4	88	1	0	0	0	0	0	0	0	1	12633	726	26	2		2	PROP1	5	177421242	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1462	177421242	3494018	6698	14410											
N4BP3	23138	broad.mit.edu	37	chr5	177546611	177546611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccccaggccctgctggCattgccatgggcagcgtggg	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177546611C>T	ENST00000274605.5	+	2	386	c.27C>T	c.(25-27)ggC>ggT	p.G9G		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	9						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTGCTGGCATTGCCATGG	0.652													False	0	False	5:177546611	0	T	177546611	C	T	177546611	2	4	88	1	0	0	0	0	0	0	0	1	10180	697	25	2		2	N4BP3	5	177546611	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125369	177546611	3368649	6699	14411											
N4BP3	23138	broad.mit.edu	37	chr5	177547263	177547263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagtctggcgtcccacaaaGgccagaagctgtggcgcagc	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177547263G>T	ENST00000274605.5	+	3	774	c.415G>T	c.(415-417)Ggc>Tgc	p.G139C		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	139						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCCCACAAAGGCCAGAAGCT	0.677													False	0	True	5:177547263	0	T	177547263	G	T	177547263	3	4	88	1	0	0	0	0	1	0	0	0	10180	1000	35	3	421	3	N4BP3	5	177547263	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	652	177547263	3367997	6700	14412											
N4BP3	23138	broad.mit.edu	37	chr5	177547450	177547450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtagttttggtcgcagtcCtggtactggccctagcccct	13	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177547450C>A	ENST00000274605.5	+	3	961	c.602C>A	c.(601-603)cCt>cAt	p.P201H		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	201						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCGCAGTCCTGGTACTGGC	0.677													False	0	False	5:177547450	0	A	177547450	C	A	177547450	3	1	88	1	0	0	0	0	1	0	0	0	10180	681	24	3	608	3	N4BP3	5	177547450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187	177547450	3367810	6701	14413											
RMND5B	64777	broad.mit.edu	37	chr5	177569660	177569660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagatcaaagatacggtGcagaaactggcttcggacca	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177569660G>A	ENST00000515098.1	+	5	567	c.216G>A	c.(214-216)gtG>gtA	p.V72V	RMND5B_ENST00000313386.4_Silent_p.V72V|RMND5B_ENST00000542098.1_Silent_p.V59V			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	72										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGATACGGTGCAGAAACTGG	0.577													False	0	False	5:177569660	0	A	177569660	G	A	177569660	2	1	88	1	0	0	0	0	0	0	0	1	13477	1306	46	2		2	RMND5B	5	177569660	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22210	177569660	3345600	6702	14414											
HNRNPAB	3182	broad.mit.edu	37	chr5	177633812	177633812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgaagaaggacccggTgaagaaaatcttcgttgggg	15	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177633812T>C	ENST00000358344.3	+	4	715	c.458T>C	c.(457-459)gTg>gCg	p.V153A	HNRNPAB_ENST00000506339.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.V153A|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.V153A|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.V153A	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	152	RRM 1.|RRM 2.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						AAGGACCCGGTGAAGAAAATC	0.522													False	0	False	5:177633812	0	C	177633812	T	C	177633812	3	2	88	1	0	0	0	0	1	0	0	0	7308	1696	59	4	468	4	HNRNPAB	5	177633812	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64152	177633812	3281448	6703	14415											
ZNF354A	6940	broad.mit.edu	37	chr5	178139061	178139061	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacacatacaaatctactttCtaggggtcctcttcgatatg	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178139061C>A	ENST00000335815.2	-	5	2015	c.1818G>T	c.(1816-1818)taG>taT	p.*606Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	0					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		AATCTACTTTCTAGGGGTCCT	0.348													False	0	True	5:178139061	0	A	178139061	C	A	178139061	4	1	88	1	0	0	0	0	0	0	0	0	17947	924	32	3	3	3	ZNF354A	5	178139061	Nonstop_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	505249	178139061	2776199	6704	14416											
ZNF354A	6940	broad.mit.edu	37	chr5	178139568	178139568	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcattacaattataAaacttctctccagtatgaat	2	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178139568A>C	ENST00000335815.2	-	5	1508	c.1311T>G	c.(1309-1311)ttT>ttG	p.F437L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	437				F -> Y (in Ref. 1; BAA25182).	regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TACAATTATAAAACTTCTCTC	0.363													False	0	True	5:178139568	0	C	178139568	A	C	178139568	3	2	88	1	0	0	0	0	1	0	0	0	17947	11	1	4	510	4	ZNF354A	5	178139568	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	507	178139568	2775692	6705	14417											
ZNF354A	6940	broad.mit.edu	37	chr5	178152398	178152398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagaggagacgccagaacCgtctttctccacctcccagg	10	14	2	3	rs145090436	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178152398C>T	ENST00000335815.2	-	4	432	c.235G>A	c.(235-237)Ggt>Agt	p.G79S		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	79	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACGCCAGAACCGTCTTTCTCC	0.527													False	0	False	5:178152398	0	T	178152398	C	T	178152398	3	4	88	1	0	0	0	0	1	0	0	0	17947	652	23	1	1590	1	ZNF354A	5	178152398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12830	178152398	2762862	6706	14418											
ZNF354B	117608	broad.mit.edu	37	chr5	178310195	178310195	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttaaatgtaaagaatgtTtaaaagctttcagccaaagt	6	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178310195T>C	ENST00000322434.3	+	5	968	c.742T>C	c.(742-744)Tta>Cta	p.L248L		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAAGAATGTTTAAAAGCTTT	0.343													False	0	True	5:178310195	0	C	178310195	T	C	178310195	2	2	88	1	0	0	0	0	0	0	0	1	17948	1838	64	4		4	ZNF354B	5	178310195	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	157797	178310195	2605065	6707	14419											
ZNF354B	117608	broad.mit.edu	37	chr5	178310832	178310832	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattattcatgagcgaattcAtactggagaaaaaccatgta	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178310832A>C	ENST00000322434.3	+	5	1605	c.1379A>C	c.(1378-1380)cAt>cCt	p.H460P		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCGAATTCATACTGGAGAA	0.378													False	0	False	5:178310832	0	C	178310832	A	C	178310832	3	2	88	1	0	0	0	0	1	0	0	0	17948	217	8	4	1393	4	ZNF354B	5	178310832	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	637	178310832	2604428	6708	14420											
ZFP2	80108	broad.mit.edu	37	chr5	178358719	178358719	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctataagtgtaatgtatgTgggaaacacttcattgaacg	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178358719T>C	ENST00000361362.2	+	5	935	c.405T>C	c.(403-405)tgT>tgC	p.C135C	ZFP2_ENST00000523286.1_Silent_p.C135C|ZFP2_ENST00000520301.1_Silent_p.C135C|ZFP2_ENST00000503510.2_Silent_p.C135C	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTAATGTATGTGGGAAACACT	0.403													False	0	True	5:178358719	0	C	178358719	T	C	178358719	2	2	88	1	0	0	0	0	0	0	0	1	17724	1702	59	4		4	ZFP2	5	178358719	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47887	178358719	2556541	6709	14421											
GRM6	2916	broad.mit.edu	37	chr5	178409946	178409946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgccaaagaagatggGcacgaatgccagccagatga	14	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178409946G>T	ENST00000231188.5	-	9	2579	c.2401C>A	c.(2401-2403)Ccc>Acc	p.P801T	GRM6_ENST00000517717.1_Missense_Mutation_p.P801T|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	801					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AAGAAGATGGGCACGAATGCC	0.577													False	0	True	5:178409946	0	T	178409946	G	T	178409946	3	4	88	1	0	0	0	0	1	0	0	0	6848	1203	42	3	240	3	GRM6	5	178409946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51227	178409946	2505314	6710	14422											
GRM6	2916	broad.mit.edu	37	chr5	178413655	178413655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgccaacagcaggggaCgcccttcaccatcttcttcc	9	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413655C>T	ENST00000231188.5	-	8	1778	c.1600G>A	c.(1600-1602)Gtc>Atc	p.V534I	GRM6_ENST00000517717.1_Missense_Mutation_p.V534I|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	534					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAGCAGGGGACGCCCTTCACC	0.682													False	0	False	5:178413655	0	T	178413655	C	T	178413655	3	4	88	1	0	0	0	0	1	0	0	0	6848	536	19	1	1045	1	GRM6	5	178413655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3709	178413655	2501605	6711	14423											
GRM6	2916	broad.mit.edu	37	chr5	178413731	178413731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcacctcgtgggggtcGccagaccactgcagggcctc	16	14	0	1	rs150342590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413731G>A	ENST00000231188.5	-	8	1702	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	GRM6_ENST00000517717.1_Silent_p.G508G|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	508					detection of visible light|visual perception	integral to plasma membrane		p.G508G(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGTGGGGGTCGCCAGACCACT	0.697													False	0	False	5:178413731	0	A	178413731	G	A	178413731	2	1	88	1	0	0	0	0	0	0	0	1	6848	1074	38	1		1	GRM6	5	178413731	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	178413731	2501529	6712	14424											
ZNF354C	30832	broad.mit.edu	37	chr5	178506423	178506423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagaaactctataaatgCggcgaatgtgagaaggcctt	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178506423C>T	ENST00000315475.6	+	5	1296	c.990C>T	c.(988-990)tgC>tgT	p.C330C		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C330C(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCTATAAATGCGGCGAATGTG	0.433													False	0	False	5:178506423	0	T	178506423	C	T	178506423	2	4	88	1	0	0	0	0	0	0	0	1	17949	776	27	1		1	ZNF354C	5	178506423	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92692	178506423	2408837	6713	14425											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552119	178552119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaatgcagcgcacggagCgcacctgcatgcctgtccgc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178552119C>T	ENST00000251582.7	-	19	2914	c.2813G>A	c.(2812-2814)cGc>cAc	p.R938H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	938	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGCACGGAGCGCACCTGCAT	0.687													False	0	False	5:178552119	0	T	178552119	C	T	178552119	3	4	88	1	0	0	0	0	1	0	0	0	265	768	27	1	838	1	ADAMTS2	5	178552119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45696	178552119	2363141	6714	14426											
ADAMTS2	9509	broad.mit.edu	37	chr5	178553085	178553085	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagaagccacggtgtaccatCttgtggtccagcctccggcg	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178553085C>T	ENST00000251582.7	-	18	2765	c.2664G>A	c.(2662-2664)aaG>aaA	p.K888K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	888	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGTACCATCTTGTGGTCCA	0.657													False	0	False	5:178553085	0	T	178553085	C	T	178553085	2	4	88	1	0	0	0	0	0	0	0	1	265	912	32	2		2	ADAMTS2	5	178553085	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	966	178553085	2362175	6715	14427											
RUFY1	80230	broad.mit.edu	37	chr5	178987118	178987118	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagtcggctctgagcctgGgccgcagcctggatgcggac	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178987118G>T	ENST00000377001.2	+	2	403	c.403G>T	c.(403-405)Ggc>Tgc	p.G135C	RUFY1_ENST00000437570.2_Missense_Mutation_p.G27C|RUFY1_ENST00000319449.4_Missense_Mutation_p.G135C|RUFY1_ENST00000393438.2_Missense_Mutation_p.G27C			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	135					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAGCCTGGGCCGCAGCCT	0.577										HNSCC(44;0.11)			False	0	True	5:178987118	0	T	178987118	G	T	178987118	3	4	88	1	0	0	0	0	1	0	0	0	13817	1232	43	3	409	3	RUFY1	5	178987118	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	434033	178987118	1928142	6716	14428											
HNRNPH1	3187	broad.mit.edu	37	chr5	179044072	179044072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtaagcaccaccgcttgctCctgctgtagaattcaagaag	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179044072C>T	ENST00000356731.5	-	9	2632	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HNRNPH1_ENST00000510411.1_Missense_Mutation_p.G366E|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G366E|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G366E|HNRNPH1_ENST00000511300.2_Missense_Mutation_p.G96E|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G366E			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	366	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						ACCGCTTGCTCCTGCTGTAGA	0.363													False	0	False	5:179044072	0	T	179044072	C	T	179044072	3	4	88	1	0	0	0	0	1	0	0	0	7313	855	30	2	268	2	HNRNPH1	5	179044072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56954	179044072	1871188	6717	14429											
MAML1	9794	broad.mit.edu	37	chr5	179192579	179192579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagactctctcaacaaaaagCgtctggctgactccagcctt	7	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179192579C>T	ENST00000292599.3	+	2	831	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	190					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAACAAAAAGCGTCTGGCTGA	0.557													False	0	False	5:179192579	0	T	179192579	C	T	179192579	3	4	88	1	0	0	0	0	1	0	0	0	9272	768	27	1	574	1	MAML1	5	179192579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148507	179192579	1722681	6718	14430											
MAML1	9794	broad.mit.edu	37	chr5	179193073	179193073	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccacacctctggtcagccCcgggcggacaatcccagtcc	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179193073C>A	ENST00000292599.3	+	2	1325	c.1062C>A	c.(1060-1062)ccC>ccA	p.P354P	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	354					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTCAGCCCCGGGCGGACA	0.622													False	0	True	5:179193073	0	A	179193073	C	A	179193073	2	1	88	1	0	0	0	0	0	0	0	1	9272	610	22	3		3	MAML1	5	179193073	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	494	179193073	1722187	6719	14431											
MAML1	9794	broad.mit.edu	37	chr5	179193167	179193167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggtattgcccagtcagGgcccaggaggggcctcagag	17	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179193167G>A	ENST00000292599.3	+	2	1419	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	386					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCAGTCAGGGCCCAGGAGG	0.642													False	0	True	5:179193167	0	A	179193167	G	A	179193167	3	1	88	1	0	0	0	0	1	0	0	0	9272	1232	43	2	1162	2	MAML1	5	179193167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	179193167	1722093	6720	14432											
MAML1	9794	broad.mit.edu	37	chr5	179201461	179201461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacctgaaaatgtctagCccgcaattctcccaggcagt	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179201461C>T	ENST00000292599.3	+	5	2897	c.2634C>T	c.(2632-2634)agC>agT	p.S878S	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	878					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAATGTCTAGCCCGCAATTCT	0.612													False	0	True	5:179201461	0	T	179201461	C	T	179201461	2	4	88	1	0	0	0	0	0	0	0	1	9272	738	26	2		2	MAML1	5	179201461	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8294	179201461	1713799	6721	14433											
MAML1	9794	broad.mit.edu	37	chr5	179201852	179201852	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagtggatgagtgatTtggacgacctgttagggtct	16	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179201852T>C	ENST00000292599.3	+	5	3288	c.3025T>C	c.(3025-3027)Ttg>Ctg	p.L1009L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	1009					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGAGTGATTTGGACGACCT	0.463													False	0	True	5:179201852	0	C	179201852	T	C	179201852	2	2	88	1	0	0	0	0	0	0	0	1	9272	1838	64	4		4	MAML1	5	179201852	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	391	179201852	1713408	6722	14434											
MGAT4B	11282	broad.mit.edu	37	chr5	179227252	179227252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatcgaggttctgtttggTcctccacctgtgggccgggg	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179227252T>C	ENST00000337755.5	-	6	1658	c.772A>G	c.(772-774)Acc>Gcc	p.T258A	MGAT4B_ENST00000292591.7_Missense_Mutation_p.T243A	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	243					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGTTTGGTCCTCCACCTG	0.627													False	0	False	5:179227252	0	C	179227252	T	C	179227252	3	2	88	1	0	0	0	0	1	0	0	0	9613	1667	58	4	955	4	MGAT4B	5	179227252	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25400	179227252	1688008	6723	14435											
SQSTM1	8878	broad.mit.edu	37	chr5	179260104	179260104	+	Missense_Mutation	SNP	C	C	A													ccccgtctctccagagagttCcagcacagaggagaagagca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179260104C>A	ENST00000389805.4	+	6	1005	c.827C>A	c.(826-828)tCc>tAc	p.S276Y	SQSTM1_ENST00000360718.5_Missense_Mutation_p.S192Y|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S276Y|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S192Y|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S192Y	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	276	Interaction with NTRK1 (By similarity).|Ser-rich.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGAGAGTTCCAGCACAGAG	0.602													False	0	False	5:179260104	0	A	179260104	C	A	179260104	3	1	88	1	0	0	0	0	1	0	0	0	15212	855	30	3	849	3	SQSTM1	5	179260104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32852	179260104	1655156	6724	14436	185	2									
SQSTM1	8878	broad.mit.edu	37	chr5	179260107	179260107	+	Missense_Mutation	SNP	G	G	T													cgtctctccagagagttccaGcacagaggagaagagcagct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179260107G>T	ENST00000389805.4	+	6	1008	c.830G>T	c.(829-831)aGc>aTc	p.S277I	SQSTM1_ENST00000360718.5_Missense_Mutation_p.S193I|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S277I|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S193I|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S193I	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	277	Interaction with NTRK1 (By similarity).|Ser-rich.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGTTCCAGCACAGAGGAG	0.597													False	0	False	5:179260107	0	T	179260107	G	T	179260107	3	4	88	1	0	0	0	0	1	0	0	0	15212	971	34	3	852	3	SQSTM1	5	179260107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3	179260107	1655153	6725	14437	185	2									
C5orf45	51149	broad.mit.edu	37	chr5	179264406	179264406	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagatcacacatcatcatcGaagtcttccccagttataaa	4	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179264406G>A	ENST00000292586.6	-	7	1107	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000376931.2_Silent_p.F284F|C5orf45_ENST00000523084.1_Silent_p.F205F|C5orf45_ENST00000518235.1_Intron|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	339										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CATCATCATCGAAGTCTTCCC	0.512													False	0	True	5:179264406	0	A	179264406	G	A	179264406	2	1	88	1	0	0	0	0	0	0	0	1	2321	1049	37	1		1	C5orf45	5	179264406	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4299	179264406	1650854	6726	14438											
C5orf45	51149	broad.mit.edu	37	chr5	179269014	179269014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagctccagttcttgggaGtccttttctagatacttcag	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179269014G>A	ENST00000518219.1	-	5	353	c.342C>T	c.(340-342)gaC>gaT	p.D114D	C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000376931.2_Silent_p.D59D|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000518235.1_Silent_p.D114D|C5orf45_ENST00000292586.6_Silent_p.D114D|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000520698.1_Silent_p.D59D|C5orf45_ENST00000403396.2_Silent_p.D156D			Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	114										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GTTCTTGGGAGTCCTTTTCTA	0.498													False	0	False	5:179269014	0	A	179269014	G	A	179269014	2	1	88	1	0	0	0	0	0	0	0	1	2321	1020	36	2		2	C5orf45	5	179269014	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4608	179269014	1646246	6727	14439											
C5orf45	51149	broad.mit.edu	37	chr5	179275064	179275064	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagagccttcaccataAgcctgagaaaccaaaaaata	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179275064A>C	ENST00000518219.1	-	3	140	c.129T>G	c.(127-129)gcT>gcG	p.A43A	C5orf45_ENST00000521333.1_Silent_p.A43A|C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000523084.1_Intron|C5orf45_ENST00000518235.1_Silent_p.A43A|C5orf45_ENST00000292586.6_Silent_p.A43A|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000403396.2_Silent_p.A85A			Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	43										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CTTCACCATAAGCCTGAGAAA	0.423													False	0	False	5:179275064	0	C	179275064	A	C	179275064	2	2	88	1	0	0	0	0	0	0	0	1	2321	59	3	4		4	C5orf45	5	179275064	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6050	179275064	1640196	6728	14440											
TBC1D9B	23061	broad.mit.edu	37	chr5	179291064	179291064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcgatggcgtggtacaggTcctgctccatggggtcttca	15	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179291064T>C	ENST00000356834.3	-	22	3174	c.3137A>G	c.(3136-3138)gAc>gGc	p.D1046G	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.D205G|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.D1029G|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.D187G|TBC1D9B_ENST00000518085.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1046						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGTACAGGTCCTGCTCCAT	0.562													False	0	False	5:179291064	0	C	179291064	T	C	179291064	3	2	88	1	0	0	0	0	1	0	0	0	15710	1667	58	4	619	4	TBC1D9B	5	179291064	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16000	179291064	1624196	6729	14441											
TBC1D9B	23061	broad.mit.edu	37	chr5	179302094	179302094	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaccaggacagcgagatgCtggagatcacccccaggtcc	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179302094C>A	ENST00000356834.3	-	12	2031	c.1994G>T	c.(1993-1995)aGc>aTc	p.S665I	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.S665I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	665	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGAGATGCTGGAGATCAC	0.597													False	0	False	5:179302094	0	A	179302094	C	A	179302094	3	1	88	1	0	0	0	0	1	0	0	0	15710	797	28	3	1802	3	TBC1D9B	5	179302094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11030	179302094	1613166	6730	14442											
RASGEF1C	255426	broad.mit.edu	37	chr5	179545622	179545622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctaccttctctcggctgCtgtgggccgtcagggagcgg	15	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179545622C>T	ENST00000393371.2	-	9	1366	c.1070G>A	c.(1069-1071)aGc>aAc	p.S357N	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S357N|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.S206N			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	357	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTCGGCTGCTGTGGGCCGT	0.672													False	0	False	5:179545622	0	T	179545622	C	T	179545622	3	4	88	1	0	0	0	0	1	0	0	0	13150	797	28	2	350	2	RASGEF1C	5	179545622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243528	179545622	1369638	6731	14443											
MAPK9	5601	broad.mit.edu	37	chr5	179666973	179666973	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaactgggcatcataAatttgaggtggtggctaaaa	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179666973A>T	ENST00000452135.2	-	10	1309	c.1011T>A	c.(1009-1011)atT>atA	p.I337I	MAPK9_ENST00000347470.4_Silent_p.I252I|MAPK9_ENST00000343111.6_Silent_p.I337I|MAPK9_ENST00000393360.3_Silent_p.I337I|MAPK9_ENST00000455781.1_Silent_p.I337I|MAPK9_ENST00000397072.3_3'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	337					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCATCATAAATTTGAGGTG	0.338													False	0	True	5:179666973	0	T	179666973	A	T	179666973	2	4	88	1	0	0	0	0	0	0	0	1	9354	10	1	5		5	MAPK9	5	179666973	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	121351	179666973	1248287	6732	14444											
MAPK9	5601	broad.mit.edu	37	chr5	179676059	179676059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcatcatgaagttagtgCacgctgtccgggccaggcca	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179676059C>T	ENST00000452135.2	-	6	828	c.530G>A	c.(529-531)tGc>tAc	p.C177Y	MAPK9_ENST00000539014.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.C177Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.C177Y|MAPK9_ENST00000393360.3_Missense_Mutation_p.C177Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.C177Y|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.C177Y|MAPK9_ENST00000524170.1_5'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	177	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGTTAGTGCACGCTGTCCG	0.512													False	0	False	5:179676059	0	T	179676059	C	T	179676059	3	4	88	1	0	0	0	0	1	0	0	0	9354	710	25	2	894	2	MAPK9	5	179676059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9086	179676059	1239201	6733	14445											
GFPT2	9945	broad.mit.edu	37	chr5	179743450	179743450	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcagtcagttcctccaaAacttgccgcgtctgaagcca	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179743450A>C	ENST00000253778.8	-	13	1333	c.1164T>G	c.(1162-1164)gtT>gtG	p.V388V		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	388	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GTTCCTCCAAAACTTGCCGCG	0.498													False	0	True	5:179743450	0	C	179743450	A	C	179743450	2	2	88	1	0	0	0	0	0	0	0	1	6391	1	1	4		4	GFPT2	5	179743450	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67391	179743450	1171810	6734	14446											
GFPT2	9945	broad.mit.edu	37	chr5	179758500	179758500	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagcatcttaccagaaAtttcctcagatctttgtaat	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179758500A>C	ENST00000253778.8	-	5	563	c.394T>G	c.(394-396)Ttt>Gtt	p.F132V		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	132	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTTACCAGAAATTTCCTCAGA	0.438													False	0	True	5:179758500	0	C	179758500	A	C	179758500	3	2	88	1	0	0	0	0	1	0	0	0	6391	101	4	4	1714	4	GFPT2	5	179758500	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15050	179758500	1156760	6735	14447											
FLT4	2324	broad.mit.edu	37	chr5	180038401	180038401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgggcgatgtgtagggCcatggtggacacctgcgaga	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180038401C>T	ENST00000261937.6	-	27	3694	c.3616G>A	c.(3616-3618)Gcc>Acc	p.A1206T	FLT4_ENST00000502649.1_Missense_Mutation_p.A1206T|FLT4_ENST00000393347.3_Missense_Mutation_p.A1206T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1206					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTGTAGGGCCATGGTGGAC	0.667													False	0	True	5:180038401	0	T	180038401	C	T	180038401	3	4	88	1	0	0	0	0	1	0	0	0	5984	739	26	2	499	2	FLT4	5	180038401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279901	180038401	876859	6736	14448											
FLT4	2324	broad.mit.edu	37	chr5	180046743	180046743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcttccaccaccttccCgaaggcgccgtagccgagca	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180046743C>T	ENST00000261937.6	-	18	2647	c.2569G>A	c.(2569-2571)Ggg>Agg	p.G857R	FLT4_ENST00000502649.1_Missense_Mutation_p.G857R|FLT4_ENST00000393347.3_Missense_Mutation_p.G857R	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	857	Protein kinase.		G -> R (in LMPH1A; loss of kinase activity).		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACCACCTTCCCGAAGGCGCCG	0.672													False	0	True	5:180046743	0	T	180046743	C	T	180046743	3	4	88	1	0	0	0	0	1	0	0	0	5984	652	23	1	1582	1	FLT4	5	180046743	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8342	180046743	868517	6737	14449											
FLT4	2324	broad.mit.edu	37	chr5	180055887	180055887	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccagggctgttaccactgGaactcgggcggggggtacgc	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180055887G>A	ENST00000261937.6	-	8	1176	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.F366F|FLT4_ENST00000393347.3_Silent_p.F366F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	366	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTTACCACTGGAACTCGGGCG	0.657													False	0	False	5:180055887	0	A	180055887	G	A	180055887	2	1	88	1	0	0	0	0	0	0	0	1	5984	1165	41	2		2	FLT4	5	180055887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9144	180055887	859373	6738	14450											
FLT4	2324	broad.mit.edu	37	chr5	180056812	180056812	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcgacttcctgggcaacaGctggatgtcatagagctcgt	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180056812G>T	ENST00000261937.6	-	6	778	c.700C>A	c.(700-702)Ctg>Atg	p.L234M	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.L234M|FLT4_ENST00000393347.3_Missense_Mutation_p.L234M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	234	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCAACAGCTGGATGTCA	0.592													False	0	False	5:180056812	0	T	180056812	G	T	180056812	3	4	88	1	0	0	0	0	1	0	0	0	5984	962	34	3	3499	3	FLT4	5	180056812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	925	180056812	858448	6739	14451											
FLT4	2324	broad.mit.edu	37	chr5	180057602	180057602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtgccctcgatgcgtGccttgatgtacttgtagtag	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180057602G>A	ENST00000261937.6	-	3	431	c.353C>T	c.(352-354)gCa>gTa	p.A118V	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.A118V|FLT4_ENST00000393347.3_Missense_Mutation_p.A118V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	118	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTCGATGCGTGCCTTGATGTA	0.642													False	0	False	5:180057602	0	A	180057602	G	A	180057602	3	1	88	1	0	0	0	0	1	0	0	0	5984	1319	46	2	3858	2	FLT4	5	180057602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	790	180057602	857658	6740	14452											
MGAT1	4245	broad.mit.edu	37	chr5	180218780	180218780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgacacccagagccttggCgaaagccttgaagctgtccc	10	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180218780C>T	ENST00000446023.2	-	3	1942	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	MGAT1_ENST00000393340.3_Missense_Mutation_p.A398T|MGAT1_ENST00000427865.2_Missense_Mutation_p.A398T|MGAT1_ENST00000333055.3_Missense_Mutation_p.A398T|MGAT1_ENST00000307826.4_Missense_Mutation_p.A398T	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	398					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGCCTTGGCGAAAGCCTTG	0.617													False	0	False	5:180218780	0	T	180218780	C	T	180218780	3	4	88	1	0	0	0	0	1	0	0	0	9609	768	27	1	149	1	MGAT1	5	180218780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161178	180218780	696480	6741	14453											
BTNL8	79908	broad.mit.edu	37	chr5	180377192	180377192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggtcctcagactgaatgGagaacatttgtatttcacat	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180377192G>A	ENST00000340184.4	+	8	1357	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.G177E|BTNL8_ENST00000400707.3_Missense_Mutation_p.G259E|BTNL8_ENST00000533815.2_Missense_Mutation_p.G200E|BTNL8_ENST00000511704.1_Missense_Mutation_p.G268E	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	384	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGACTGAATGGAGAACATTTG	0.512													False	0	False	5:180377192	0	A	180377192	G	A	180377192	3	1	88	1	0	0	0	0	1	0	0	0	1574	1174	41	2	1337	2	BTNL8	5	180377192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158412	180377192	538068	6742	14454											
BTNL3	10917	broad.mit.edu	37	chr5	180424256	180424256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcgtgggatatgttgaCggaggtatccagttactctg	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180424256C>T	ENST00000342868.6	+	3	625	c.441C>T	c.(439-441)gaC>gaT	p.D147D		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	147	Ig-like V-type.				lipid metabolic process	integral to membrane		p.D147E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GATATGTTGACGGAGGTATCC	0.498													False	0	False	5:180424256	0	T	180424256	C	T	180424256	2	4	88	1	0	0	0	0	0	0	0	1	1573	535	19	1		1	BTNL3	5	180424256	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47064	180424256	491004	6743	14455											
BTNL3	10917	broad.mit.edu	37	chr5	180424301	180424301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaggctggttcccccaGcccacagccaagtggaaagg	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180424301G>T	ENST00000342868.6	+	3	670	c.486G>T	c.(484-486)caG>caT	p.Q162H		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	162	Ig-like V-type.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGTTCCCCCAGCCCACAGCCA	0.512													False	0	True	5:180424301	0	T	180424301	G	T	180424301	3	4	88	1	0	0	0	0	1	0	0	0	1573	962	34	3	496	3	BTNL3	5	180424301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	180424301	490959	6744	14456											
BTNL3	10917	broad.mit.edu	37	chr5	180432639	180432639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacagaacatttgtatttcAcattcaatccccattttatc	2	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180432639A>G	ENST00000342868.6	+	8	1352	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	390	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TTTGTATTTCACATTCAATCC	0.498													False	0	False	5:180432639	0	G	180432639	A	G	180432639	3	3	88	1	0	0	0	0	1	0	0	0	1573	159	6	4	1198	4	BTNL3	5	180432639	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8338	180432639	482621	6745	14457											
BTNL9	153579	broad.mit.edu	37	chr5	180475061	180475061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggagtcagaccttcaatGtggtacacctgtaccaggag	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180475061G>A	ENST00000327705.9	+	3	475	c.244G>A	c.(244-246)Gtg>Atg	p.V82M	BTNL9_ENST00000376842.3_Missense_Mutation_p.V82M|BTNL9_ENST00000376841.2_Missense_Mutation_p.V82M|BTNL9_ENST00000515271.1_Missense_Mutation_p.V13M	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	82	Ig-like V-type.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCTTCAATGTGGTACACCT	0.617													False	0	False	5:180475061	0	A	180475061	G	A	180475061	3	1	88	1	0	0	0	0	1	0	0	0	1575	1377	48	2	250	2	BTNL9	5	180475061	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42422	180475061	440199	6746	14458											
BTNL9	153579	broad.mit.edu	37	chr5	180480219	180480219	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgttcgtacccggagcCtctgcgtggaagagcgcgtt	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180480219C>A	ENST00000327705.9	+	5	987	c.756C>A	c.(754-756)gcC>gcA	p.A252A	BTNL9_ENST00000511589.1_3'UTR|BTNL9_ENST00000376842.3_Silent_p.A252A|BTNL9_ENST00000376841.2_Silent_p.A252A|BTNL9_ENST00000515271.1_Silent_p.A183A	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	252						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACCCGGAGCCTCTGCGTGGA	0.721													False	0	False	5:180480219	0	A	180480219	C	A	180480219	2	1	88	1	0	0	0	0	0	0	0	1	1575	668	24	3		3	BTNL9	5	180480219	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5158	180480219	435041	6747	14459											
BTNL9	153579	broad.mit.edu	37	chr5	180486818	180486818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaacgacagtgacacctggCtacagccctatgagcccgcg	11	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180486818C>A	ENST00000327705.9	+	11	1795	c.1564C>A	c.(1564-1566)Cta>Ata	p.L522I	BTNL9_ENST00000376842.3_Missense_Mutation_p.L523I	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	522						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACACCTGGCTACAGCCCTA	0.726													False	0	False	5:180486818	0	A	180486818	C	A	180486818	3	1	88	1	0	0	0	0	1	0	0	0	1575	796	28	3	1602	3	BTNL9	5	180486818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6599	180486818	428442	6748	14460											
TRIM7	81786	broad.mit.edu	37	chr5	180622208	180622208	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgcccgtggagcaaacagaGaaaagcgggaacacgcgctc	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180622208G>A	ENST00000393315.1	-	7	1567	c.870C>T	c.(868-870)ttC>ttT	p.F290F	TRIM7_ENST00000422067.2_Silent_p.F290F|TRIM7_ENST00000274773.7_Silent_p.F498F|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393319.3_Silent_p.F316F|TRIM7_ENST00000361809.3_Silent_p.F290F	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	498						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		AGCAAACAGAGAAAAGCGGGA	0.632													False	0	True	5:180622208	0	A	180622208	G	A	180622208	2	1	88	1	0	0	0	0	0	0	0	1	16626	933	33	2		2	TRIM7	5	180622208	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135390	180622208	293052	6749	14461											
TRIM41	90933	broad.mit.edu	37	chr5	180651776	180651776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagccacaaacagcacagCgtggtgccattggaggaggt	15	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180651776C>T	ENST00000315073.5	+	1	1487	c.777C>T	c.(775-777)agC>agT	p.S259S	TRIM41_ENST00000351937.5_Silent_p.S259S|CTC-338M12.7_ENST00000499096.2_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	259						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACAGCACAGCGTGGTGCCAT	0.547													False	0	True	5:180651776	0	T	180651776	C	T	180651776	2	4	88	1	0	0	0	0	0	0	0	1	16599	767	27	1		1	TRIM41	5	180651776	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29568	180651776	263484	6750	14462											
TRIM41	90933	broad.mit.edu	37	chr5	180661696	180661696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcccacgtgcacaccttctCggctgccttcctgggcgagc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180661696C>T	ENST00000315073.5	+	6	2524	c.1814C>T	c.(1813-1815)tCg>tTg	p.S605L	TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	605	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACACCTTCTCGGCTGCCTTC	0.602													False	0	False	5:180661696	0	T	180661696	C	T	180661696	3	4	88	1	0	0	0	0	1	0	0	0	16599	893	31	1	1836	1	TRIM41	5	180661696	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9920	180661696	253564	6751	14463											
TRIM52	84851	broad.mit.edu	37	chr5	180687720	180687720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttgtgcccacagctgatgGacacggggtccttgaagtaa	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180687720G>A	ENST00000327767.4	-	1	399	c.95C>T	c.(94-96)tCc>tTc	p.S32F	CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	32						intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		ACAGCTGATGGACACGGGGTC	0.562													False	0	False	5:180687720	0	A	180687720	G	A	180687720	3	1	88	1	0	0	0	0	1	0	0	0	16610	1174	41	2	806	2	TRIM52	5	180687720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26024	180687720	227540	6752	14464											
DUSP22	56940	broad.mit.edu	37	chr6	345913	345913	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccggctccgcggtgagaGctgccttgtacactggtacg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:345913G>A	ENST00000604971.1	+	0	1052				DUSP22_ENST00000605863.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000344450.5_Missense_Mutation_p.S83N|DUSP22_ENST00000605315.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000605035.1_De_novo_Start_OutOfFrame|DUSP22_ENST00000419235.2_Missense_Mutation_p.S83N|DUSP22_ENST00000603453.1_De_novo_Start_OutOfFrame			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22						apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CGCGGTGAGAGCTGCCTTGTA	0.433													False	0	False	6:345913	0	A	345913	G	A	345913	1	1	88	1	0	0	0	0	0	0	0	0	4851	971	34	2		2	DUSP22	6	345913	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08		345913	170769154	6753	14465											
EXOC2	55770	broad.mit.edu	37	chr6	532557	532557	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgggatctgctttcaactcGatgtaattttcaaagagtct	8	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:532557G>A	ENST00000230449.4	-	23	2427	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	EXOC2_ENST00000448181.3_Silent_p.I359I	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	764					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTTCAACTCGATGTAATTTT	0.393													False	0	False	6:532557	0	A	532557	G	A	532557	2	1	88	1	0	0	0	0	0	0	0	1	5334	1048	37	1		1	EXOC2	6	532557	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186644	532557	170582510	6754	14466											
HUS1B	135458	broad.mit.edu	37	chr6	656306	656306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaggcacacccacagcCgactggggagggtttccaag	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:656306C>T	ENST00000380907.2	-	1	657	c.639G>A	c.(637-639)tcG>tcA	p.S213S	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	213										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CACCCACAGCCGACTGGGGAG	0.502													False	0	False	6:656306	0	T	656306	C	T	656306	2	4	88	1	0	0	0	0	0	0	0	1	7510	639	23	1		1	HUS1B	6	656306	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123749	656306	170458761	6755	14467											
HUS1B	135458	broad.mit.edu	37	chr6	656841	656841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagcacaggctgtcagggCgcacgcggagcacgcagacc	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:656841C>T	ENST00000380907.2	-	1	122	c.104G>A	c.(103-105)cGc>cAc	p.R35H	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	35										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GCTGTCAGGGCGCACGCGGAG	0.667													False	0	True	6:656841	0	T	656841	C	T	656841	3	4	88	1	0	0	0	0	1	0	0	0	7510	768	27	1	736	1	HUS1B	6	656841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	535	656841	170458226	6756	14468											
FOXF2	2295	broad.mit.edu	37	chr6	1390839	1390839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgggcttcggggcgtcGctgctgccccagggcttcga	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1390839G>A	ENST00000259806.1	+	1	771	c.657G>A	c.(655-657)tcG>tcA	p.S219S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	219					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCGGGGCGTCGCTGCTGCCCC	0.746													False	0	False	6:1390839	0	A	1390839	G	A	1390839	2	1	88	1	0	0	0	0	0	0	0	1	6048	1074	38	1		1	FOXF2	6	1390839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	733998	1390839	169724228	6757	14469											
FOXF2	2295	broad.mit.edu	37	chr6	1391220	1391220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagctcgcctggcgcctcGccttacctcaagcagccgcc	11	18	1	0	rs144247905	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1391220G>A	ENST00000259806.1	+	1	1152	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	346					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTGGCGCCTCGCCTTACCTCA	0.706													False	0	True	6:1391220	0	A	1391220	G	A	1391220	2	1	88	1	0	0	0	0	0	0	0	1	6048	1074	38	1		1	FOXF2	6	1391220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	381	1391220	169723847	6758	14470											
FOXC1	2296	broad.mit.edu	37	chr6	1610993	1610993	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcaccctgaacggcatcTaccagttcatcatggaccgc	8	14	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1610993T>C	ENST00000380874.2	+	1	313	c.313T>C	c.(313-315)Tac>Cac	p.Y105H		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	105					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GAACGGCATCTACCAGTTCAT	0.577													False	0	False	6:1610993	0	C	1610993	T	C	1610993	3	2	88	1	0	0	0	0	1	0	0	0	6034	1522	53	4	315	4	FOXC1	6	1610993	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	219773	1610993	169504074	6759	14471											
GMDS	2762	broad.mit.edu	37	chr6	1624761	1624761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcgctttggtgcagtcGccctgcagaaagtcctaggg	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1624761G>A	ENST00000380815.4	-	10	1271	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	GMDS_ENST00000467288.2_5'UTR|GMDS_ENST00000530927.1_Silent_p.G304G	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	334					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGGTGCAGTCGCCCTGCAGAA	0.667													False	0	True	6:1624761	0	A	1624761	G	A	1624761	2	1	88	1	0	0	0	0	0	0	0	1	6531	1074	38	1		1	GMDS	6	1624761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13768	1624761	169490306	6760	14472											
MYLK4	340156	broad.mit.edu	37	chr6	2679691	2679691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggacgtgtcgatcaaaaatCgtgaacactgaaatgatgta	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2679691C>T	ENST00000268446.5	-	8	1006	c.710G>A	c.(709-711)cGa>cAa	p.R237Q	MYLK4_ENST00000274643.7_Intron			Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	238	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GATCAAAAATCGTGAACACTG	0.393													False	0	False	6:2679691	0	T	2679691	C	T	2679691	3	4	88	1	0	0	0	0	1	0	0	0	10126	899	31	1		1	MYLK4	6	2679691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1054930	2679691	168435376	6761	14473											
MYLK4	340156	broad.mit.edu	37	chr6	2685594	2685594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacagctggatgaggttcgCgtggtccagctggttcatga	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2685594C>T	ENST00000274643.7	-	6	823	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	MYLK4_ENST00000268446.5_Missense_Mutation_p.A161T	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	161	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ATGAGGTTCGCGTGGTCCAGC	0.572													False	0	False	6:2685594	0	T	2685594	C	T	2685594	3	4	88	1	0	0	0	0	1	0	0	0	10126	768	27	1	713	1	MYLK4	6	2685594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5903	2685594	168429473	6762	14474											
WRNIP1	56897	broad.mit.edu	37	chr6	2770555	2770555	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acgtcctagactctagccgtCccactgaccctctgagccac	7	18	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2770555C>A	ENST00000380769.4	+	3	787	c.556C>A	c.(556-558)Ccc>Acc	p.P186T	WRNIP1_ENST00000380764.1_Missense_Mutation_p.P22T|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P381T|WRNIP1_ENST00000380773.4_Missense_Mutation_p.P406T			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	406					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTCTAGCCGTCCCACTGACCC	0.547													False	0	True	6:2770555	0	A	2770555	C	A	2770555	3	1	88	1	0	0	0	0	1	0	0	0	17487	855	30	3	1226	3	WRNIP1	6	2770555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84961	2770555	168344512	6763	14475											
WRNIP1	56897	broad.mit.edu	37	chr6	2784570	2784570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcaggtctggcagaccCgtctgcgttaacacaagcgg	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2784570C>T	ENST00000380769.4	+	6	1226	c.995C>T	c.(994-996)cCg>cTg	p.P332L	WRNIP1_ENST00000380764.1_Missense_Mutation_p.P168L|WRNIP1_ENST00000380771.4_Missense_Mutation_p.P527L|WRNIP1_ENST00000380773.4_Missense_Mutation_p.P552L			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	552					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTGGCAGACCCGTCTGCGTTA	0.507													False	0	True	6:2784570	0	T	2784570	C	T	2784570	3	4	88	1	0	0	0	0	1	0	0	0	17487	652	23	1	1677	1	WRNIP1	6	2784570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14015	2784570	168330497	6764	14476											
SERPINB9	5272	broad.mit.edu	37	chr6	2896327	2896327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctccaaagagcctgttgGccgttctcagcaggtactgt	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2896327G>A	ENST00000380698.4	-	3	355	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	89					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAGCCTGTTGGCCGTTCTCAG	0.443													False	0	False	6:2896327	0	A	2896327	G	A	2896327	3	1	88	1	0	0	0	0	1	0	0	0	14189	1203	42	2	884	2	SERPINB9	6	2896327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111757	2896327	168218740	6765	14477											
NQO2	4835	broad.mit.edu	37	chr6	3010414	3010414	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agccgagggccacagacaaaGatatcactggtgagtcatgg	13	9	2	3	rs55771117		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3010414G>T	ENST00000338130.2	+	6	875	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	NQO2_ENST00000380455.4_Missense_Mutation_p.D55Y|NQO2_ENST00000380441.1_Missense_Mutation_p.D55Y|NQO2_ENST00000606474.1_3'UTR|NQO2_ENST00000380430.1_Missense_Mutation_p.D55Y|NQO2_ENST00000380454.4_Missense_Mutation_p.D55Y			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	55						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	CACAGACAAAGATATCACTGG	0.413													False	0	True	6:3010414	0	T	3010414	G	T	3010414	3	4	88	1	0	0	0	0	1	0	0	0	10680	942	33	3	169	3	NQO2	6	3010414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114087	3010414	168104653	6766	14478											
NQO2	4835	broad.mit.edu	37	chr6	3017130	3017130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcagggtaaactagcgCtcctttccgtaaccacggga	10	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3017130C>T	ENST00000338130.2	+	9	1142	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	NQO2_ENST00000380455.4_Missense_Mutation_p.L144F|NQO2_ENST00000380441.1_Missense_Mutation_p.L106F|NQO2_ENST00000380430.1_Missense_Mutation_p.L144F|NQO2_ENST00000380454.4_Missense_Mutation_p.L106F			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	144						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	TAAACTAGCGCTCCTTTCCGT	0.547													False	0	False	6:3017130	0	T	3017130	C	T	3017130	3	4	88	1	0	0	0	0	1	0	0	0	10680	797	28	2	448	2	NQO2	6	3017130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6716	3017130	168097937	6767	14479											
BPHL	670	broad.mit.edu	37	chr6	3129401	3129401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggggcgccaacgcctaCgtcactgacgaagacagcat	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3129401C>T	ENST00000380368.2	+	5	1094	c.450C>T	c.(448-450)taC>taT	p.Y150Y	BPHL_ENST00000434640.1_Silent_p.Y150Y|BPHL_ENST00000380379.5_Silent_p.Y167Y|BPHL_ENST00000380375.3_Silent_p.Y150Y			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	167					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CCAACGCCTACGTCACTGACG	0.537													False	0	False	6:3129401	0	T	3129401	C	T	3129401	2	4	88	1	0	0	0	0	0	0	0	1	1496	547	19	1		1	BPHL	6	3129401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112271	3129401	167985666	6768	14480											
TUBB2B	347733	broad.mit.edu	37	chr6	3227752	3227752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggttgccgcactggcccGcctggatgtgcacgatctca	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3227752G>A	ENST00000259818.7	-	1	217	c.26C>T	c.(25-27)gCg>gTg	p.A9V	TUBB2B_ENST00000473006.1_Intron	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	9					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCACTGGCCCGCCTGGATGTG	0.726													False	0	True	6:3227752	0	A	3227752	G	A	3227752	3	1	88	1	0	0	0	0	1	0	0	0	16839	1087	38	1	1327	1	TUBB2B	6	3227752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98351	3227752	167887315	6769	14481											
SLC22A23	63027	broad.mit.edu	37	chr6	3290032	3290032	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccacaatgttcttccacaGgttccgtgtccccaccacct	6	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3290032G>T	ENST00000436008.2	-	6	1741	c.1279C>A	c.(1279-1281)Ctg>Atg	p.L427M	SLC22A23_ENST00000406686.3_Missense_Mutation_p.L427M|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000490273.1_Missense_Mutation_p.L146M|SLC22A23_ENST00000380302.4_Missense_Mutation_p.L146M			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	427					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TTCTTCCACAGGTTCCGTGTC	0.587													False	0	False	6:3290032	0	T	3290032	G	T	3290032	3	4	88	1	0	0	0	0	1	0	0	0	14533	991	35	3	801	3	SLC22A23	6	3290032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62280	3290032	167825035	6770	14482											
FAM50B	26240	broad.mit.edu	37	chr6	3850321	3850321	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcagctggccaagcgccaGcacctggaggagcagcggct	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3850321G>T	ENST00000380274.1	+	1	702	c.276G>T	c.(274-276)caG>caT	p.Q92H	FAM50B_ENST00000380272.3_Missense_Mutation_p.Q92H			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	92						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCAAGCGCCAGCACCTGGAGG	0.682													False	0	False	6:3850321	0	T	3850321	G	T	3850321	3	4	88	1	0	0	0	0	1	0	0	0	5618	962	34	3	278	3	FAM50B	6	3850321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	560289	3850321	167264746	6771	14483											
PRPF4B	8899	broad.mit.edu	37	chr6	4060752	4060752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtaagaaagtacaccagCtaaaggacttgttggaccag	10	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4060752C>T	ENST00000337659.6	+	15	3026	c.2926C>T	c.(2926-2928)Cta>Tta	p.L976L	PRPF4B_ENST00000494674.1_3'UTR|PRPF4B_ENST00000538861.1_Silent_p.L962L	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	976	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGTACACCAGCTAAAGGACTT	0.448													False	0	False	6:4060752	0	T	4060752	C	T	4060752	2	4	88	1	0	0	0	0	0	0	0	1	12649	796	28	2		2	PRPF4B	6	4060752	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210431	4060752	167054315	6772	14484											
CDYL	9425	broad.mit.edu	37	chr6	4892303	4892303	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagaacacagctccatctctCtccagccggaagaacatgga	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4892303C>A	ENST00000328908.5	+	4	674	c.543C>A	c.(541-543)ctC>ctA	p.L181L	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Silent_p.L127L|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000343762.5_5'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	181					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTCCATCTCTCTCCAGCCGGA	0.537													False	0	True	6:4892303	0	A	4892303	C	A	4892303	2	1	88	1	0	0	0	0	0	0	0	1	3208	900	32	3		3	CDYL	6	4892303	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	831551	4892303	166222764	6773	14485											
RPP40	10799	broad.mit.edu	37	chr6	5000852	5000852	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatgtgtattgtatgttagTgcatagcaagaacctggaag	11	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:5000852T>C	ENST00000380051.2	-	3	326	c.282A>G	c.(280-282)gcA>gcG	p.A94A	RPP40_ENST00000319533.5_Intron|RPP40_ENST00000464646.1_Silent_p.A34A	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	94					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TGTATGTTAGTGCATAGCAAG	0.299													False	0	False	6:5000852	0	C	5000852	T	C	5000852	2	2	88	1	0	0	0	0	0	0	0	1	13693	1683	59	4		4	RPP40	6	5000852	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108549	5000852	166114215	6774	14486											
LYRM4	57128	broad.mit.edu	37	chr6	5109689	5109689	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgtctcgattctcaatgaTcagcttgtcagttgaataca	7	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:5109689T>C	ENST00000468929.1	-	2	131	c.123A>G	c.(121-123)tgA>tgG	p.*41W	LYRM4_ENST00000330636.4_Missense_Mutation_p.I82V|LYRM4_ENST00000464010.1_3'UTR			Q9HD34	LYRM4_HUMAN	LYR motif containing 4	0						mitochondrion|nucleus				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				TTCTCAATGATCAGCTTGTCA	0.562													False	0	False	6:5109689	0	C	5109689	T	C	5109689	4	2	88	1	0	0	0	0	0	0	0	0	9184	1435	50	4	35	4	LYRM4	6	5109689	Nonstop_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108837	5109689	166005378	6775	14487											
NRN1	51299	broad.mit.edu	37	chr6	6002641	6002641	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcgggtagttggccaTgctgtcgcccagcttgagca	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6002641T>C	ENST00000244766.2	-	2	362	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	49				SM -> TW (in Ref. 3; AAP97232).		anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TAGTTGGCCATGCTGTCGCCC	0.617													False	0	False	6:6002641	0	C	6002641	T	C	6002641	3	2	88	1	0	0	0	0	1	0	0	0	10726	1464	51	4	291	4	NRN1	6	6002641	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	892952	6002641	165112426	6776	14488											
NRN1	51299	broad.mit.edu	37	chr6	6006979	6006979	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgccgttcaacttaagtcCcatcctacgtttagtcaaac	5	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6006979C>A	ENST00000244766.2	-	1	221	c.4G>T	c.(4-6)Gga>Tga	p.G2*		NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	2						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		AACTTAAGTCCCATCCTACGT	0.507													False	0	True	6:6006979	0	A	6006979	C	A	6006979	4	1	88	1	0	0	0	0	0	1	0	0	10726	632	22	3	436	3	NRN1	6	6006979	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4338	6006979	165108088	6777	14489											
F13A1	2162	broad.mit.edu	37	chr6	6305593	6305593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcactcaccaatgacgtAttccaccctgaagagatccc	7	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6305593A>G	ENST00000264870.3	-	3	575	c.310T>C	c.(310-312)Tac>Cac	p.Y104H		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	104					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCAATGACGTATTCCACCCTG	0.488													False	0	False	6:6305593	0	G	6305593	A	G	6305593	3	3	88	1	0	0	0	0	1	0	0	0	5373	449	16	4	1940	4	F13A1	6	6305593	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	298614	6305593	164809474	6778	14490											
RREB1	6239	broad.mit.edu	37	chr6	7211110	7211110	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctcctctgaaacgtaggCgattgtcctccaagaggaaa	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7211110C>T	ENST00000379938.2	+	7	1036	c.499C>T	c.(499-501)Cga>Tga	p.R167*	RREB1_ENST00000379933.3_Nonsense_Mutation_p.R167*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.R167*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.R167*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	167					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAACGTAGGCGATTGTCCTC	0.507													False	0	False	6:7211110	0	T	7211110	C	T	7211110	4	4	88	1	0	0	0	0	0	1	0	0	13758	760	27	1	513	1	RREB1	6	7211110	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	905517	7211110	163903957	6779	14491											
RREB1	6239	broad.mit.edu	37	chr6	7229595	7229595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgaagctgcttccctaggCggttctctcacagttctccc	8	15	3	0	rs140980354	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7229595C>T	ENST00000379938.2	+	10	1800	c.1263C>T	c.(1261-1263)ggC>ggT	p.G421G	RREB1_ENST00000379933.3_Silent_p.G421G|RREB1_ENST00000349384.6_Silent_p.G421G|RREB1_ENST00000334984.6_Silent_p.G421G	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	421					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTTCCCTAGGCGGTTCTCTCA	0.577													False	0	False	6:7229595	0	T	7229595	C	T	7229595	2	4	88	1	0	0	0	0	0	0	0	1	13758	755	27	1		1	RREB1	6	7229595	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18485	7229595	163885472	6780	14492											
RREB1	6239	broad.mit.edu	37	chr6	7229879	7229879	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcccctggtcacaccacGgacggtggtggccacctcca	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7229879G>T	ENST00000379938.2	+	10	2084	c.1547G>T	c.(1546-1548)cGg>cTg	p.R516L	RREB1_ENST00000379933.3_Missense_Mutation_p.R516L|RREB1_ENST00000349384.6_Missense_Mutation_p.R516L|RREB1_ENST00000334984.6_Missense_Mutation_p.R516L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	516	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GTCACACCACGGACGGTGGTG	0.677													False	0	True	6:7229879	0	T	7229879	G	T	7229879	3	4	88	1	0	0	0	0	1	0	0	0	13758	1116	39	3	1573	3	RREB1	6	7229879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284	7229879	163885188	6781	14493											
RREB1	6239	broad.mit.edu	37	chr6	7230407	7230407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatccgccacctgcgcaCgcacagtggggagcggccct	13	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7230407C>T	ENST00000379938.2	+	10	2612	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	RREB1_ENST00000379933.3_Missense_Mutation_p.T692M|RREB1_ENST00000349384.6_Missense_Mutation_p.T692M|RREB1_ENST00000334984.6_Missense_Mutation_p.T692M	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	692					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACCTGCGCACGCACAGTGGG	0.637													False	0	True	6:7230407	0	T	7230407	C	T	7230407	3	4	88	1	0	0	0	0	1	0	0	0	13758	536	19	1	2101	1	RREB1	6	7230407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	528	7230407	163884660	6782	14494											
RREB1	6239	broad.mit.edu	37	chr6	7232026	7232026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccccagaagacaagctgCtgagggccaagcggaactcg	13	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7232026C>T	ENST00000379938.2	+	10	4231	c.3694C>T	c.(3694-3696)Ctg>Ttg	p.L1232L	RREB1_ENST00000379933.3_Silent_p.L1232L|RREB1_ENST00000349384.6_Silent_p.L1232L|RREB1_ENST00000334984.6_Silent_p.L1232L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1232					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGACAAGCTGCTGAGGGCCAA	0.622													False	0	False	6:7232026	0	T	7232026	C	T	7232026	2	4	88	1	0	0	0	0	0	0	0	1	13758	796	28	2		2	RREB1	6	7232026	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1619	7232026	163883041	6783	14495											
RREB1	6239	broad.mit.edu	37	chr6	7247318	7247318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcctcagagaagagcgaCgatgacaagaaaccaaagac	11	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7247318C>T	ENST00000379938.2	+	12	5172	c.4635C>T	c.(4633-4635)gaC>gaT	p.D1545D	RREB1_ENST00000379933.3_Silent_p.D1490D|RREB1_ENST00000349384.6_Silent_p.D1490D|RREB1_ENST00000334984.6_Intron	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1490					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGAAGAGCGACGATGACAAGA	0.637													False	0	False	6:7247318	0	T	7247318	C	T	7247318	2	4	88	1	0	0	0	0	0	0	0	1	13758	535	19	1		1	RREB1	6	7247318	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15292	7247318	163867749	6784	14496											
RIOK1	83732	broad.mit.edu	37	chr6	7404697	7404697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttatcagaatccaaggctCgggagttgtacctgcaggtc	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7404697C>T	ENST00000379834.2	+	10	1408	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	301	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ATCCAAGGCTCGGGAGTTGTA	0.408													False	0	True	6:7404697	0	T	7404697	C	T	7404697	3	4	88	1	0	0	0	0	1	0	0	0	13456	875	31	1	939	1	RIOK1	6	7404697	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157379	7404697	163710370	6785	14497											
DSP	1832	broad.mit.edu	37	chr6	7563014	7563014	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaatcaaagccgacctgGtacttgtctgtgtttcattt	7	9	3	0	rs111295218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7563014G>A	ENST00000379802.3	+	5	1067		c.e5+1		DSP_ENST00000418664.2_Splice_Site	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin						cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCCGACCTGGTACTTGTCTG	0.468													False	0	False	6:7563014	0	A	7563014	G	A	7563014	5	1	88	1	0	0	0	0	0	0	1	0	4811	1275	44	2	745	2	DSP	6	7563014	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158317	7563014	163552053	6786	14498											
DSP	1832	broad.mit.edu	37	chr6	7565651	7565651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacatcattcaggccacGtccagggagatcatgtggat	11	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7565651G>A	ENST00000379802.3	+	7	1178	c.837G>A	c.(835-837)acG>acA	p.T279T	DSP_ENST00000418664.2_Silent_p.T279T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	279	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTCAGGCCACGTCCAGGGAGA	0.507													False	0	False	6:7565651	0	A	7565651	G	A	7565651	2	1	88	1	0	0	0	0	0	0	0	1	4811	1132	40	1		1	DSP	6	7565651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2637	7565651	163549416	6787	14499											
DSP	1832	broad.mit.edu	37	chr6	7578046	7578046	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctggcctcatacacctcagGactggaaactctgctgaaca	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7578046G>T	ENST00000379802.3	+	21	3253	c.2912G>T	c.(2911-2913)gGa>gTa	p.G971V	DSP_ENST00000418664.2_Missense_Mutation_p.G971V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	971	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACACCTCAGGACTGGAAACT	0.418													False	0	False	6:7578046	0	T	7578046	G	T	7578046	3	4	88	1	0	0	0	0	1	0	0	0	4811	1174	41	3	2994	3	DSP	6	7578046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12395	7578046	163537021	6788	14500											
DSP	1832	broad.mit.edu	37	chr6	7579637	7579637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaggcagagtgttcccagTtcaaagcgaagcttgcgagc	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7579637T>C	ENST00000379802.3	+	23	3555	c.3214T>C	c.(3214-3216)Ttc>Ctc	p.F1072L	DSP_ENST00000418664.2_Missense_Mutation_p.F1072L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1072	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGTTCCCAGTTCAAAGCGAA	0.498													False	0	False	6:7579637	0	C	7579637	T	C	7579637	3	2	88	1	0	0	0	0	1	0	0	0	4811	1725	60	4	3304	4	DSP	6	7579637	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1591	7579637	163535430	6789	14501											
DSP	1832	broad.mit.edu	37	chr6	7580632	7580632	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatctcacccgagaaaacagGagcttatctgaagaaataaa	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7580632G>A	ENST00000379802.3	+	23	4550	c.4209G>A	c.(4207-4209)agG>agA	p.R1403R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1403	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGAAAACAGGAGCTTATCTG	0.493													False	0	False	6:7580632	0	A	7580632	G	A	7580632	2	1	88	1	0	0	0	0	0	0	0	1	4811	1165	41	2		2	DSP	6	7580632	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	995	7580632	163534435	6790	14502											
DSP	1832	broad.mit.edu	37	chr6	7582959	7582959	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggtgaaaatcaaagtcCtggagcaagacaaggcaagg	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7582959C>T	ENST00000379802.3	+	24	5805	c.5464C>T	c.(5464-5466)Ctg>Ttg	p.L1822L	DSP_ENST00000418664.2_Silent_p.L1223L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1822	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AATCAAAGTCCTGGAGCAAGA	0.478													False	0	False	6:7582959	0	T	7582959	C	T	7582959	2	4	88	1	0	0	0	0	0	0	0	1	4811	680	24	2		2	DSP	6	7582959	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2327	7582959	163532108	6791	14503											
DSP	1832	broad.mit.edu	37	chr6	7583025	7583025	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcgtgcaaaatcaactctaGaggcagaaaccagggtgaaa	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7583025G>A	ENST00000379802.3	+	24	5871	c.5530G>A	c.(5530-5532)Gag>Aag	p.E1844K	DSP_ENST00000418664.2_Missense_Mutation_p.E1245K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1844	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCAACTCTAGAGGCAGAAAC	0.498													False	0	False	6:7583025	0	A	7583025	G	A	7583025	3	1	88	1	0	0	0	0	1	0	0	0	4811	943	33	2	5624	2	DSP	6	7583025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66	7583025	163532042	6792	14504											
DSP	1832	broad.mit.edu	37	chr6	7584800	7584800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaagaaagatgcattaaGgatgaggaaacagggctctg	12	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7584800G>T	ENST00000379802.3	+	24	7646	c.7305G>T	c.(7303-7305)aaG>aaT	p.K2435N	DSP_ENST00000418664.2_Missense_Mutation_p.K1836N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2435	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATGCATTAAGGATGAGGAAA	0.413													False	0	False	6:7584800	0	T	7584800	G	T	7584800	3	4	88	1	0	0	0	0	1	0	0	0	4811	991	35	3	7399	3	DSP	6	7584800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1775	7584800	163530267	6793	14505											
DSP	1832	broad.mit.edu	37	chr6	7585624	7585624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaagaagatgtcagcagCagaggcagtgaaagaaaaat	12	4	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7585624C>T	ENST00000379802.3	+	24	8470	c.8129C>T	c.(8128-8130)gCa>gTa	p.A2710V	DSP_ENST00000418664.2_Missense_Mutation_p.A2111V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2710	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGTCAGCAGCAGAGGCAGTG	0.552													False	0	True	6:7585624	0	T	7585624	C	T	7585624	3	4	88	1	0	0	0	0	1	0	0	0	4811	710	25	2	8223	2	DSP	6	7585624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	824	7585624	163529443	6794	14506											
SNRNP48	154007	broad.mit.edu	37	chr6	7606277	7606277	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttaggaatgaagaaaggCgatcagcttcagtagattca	11	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7606277C>T	ENST00000342415.5	+	8	879	c.820C>T	c.(820-822)Cga>Tga	p.R274*		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	274					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGAAGAAAGGCGATCAGCTTC	0.413													False	0	False	6:7606277	0	T	7606277	C	T	7606277	4	4	88	1	0	0	0	0	0	1	0	0	14937	760	27	1	850	1	SNRNP48	6	7606277	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20653	7606277	163508790	6795	14507											
TFAP2A	7020	broad.mit.edu	37	chr6	10419699	10419699	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacatcgcggctctgcgctcCtggcgactggtccccgccgg	14	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10419699C>A	ENST00000319516.4	-	0	172					NM_001042425.1	NP_001035890.1	P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)						ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CTCTGCGCTCCTGGCGACTGG	0.632													False	0	False	6:10419699	0	A	10419699	C	A	10419699	1	1	88	1	0	0	0	0	0	0	0	0	15869	696	24	3		3	TFAP2A	6	10419699	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2813422	10419699	160695368	6796	14508											
GCNT2	2651	broad.mit.edu	37	chr6	10529724	10529724	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcatcaacacctgcgggcaaGactttcccctgaaaaccaac	6	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10529724G>T	ENST00000379597.3	+	1	1136	c.580G>T	c.(580-582)Gac>Tac	p.D194Y	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.D194Y			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	194						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTGCGGGCAAGACTTTCCCCT	0.527													False	0	False	6:10529724	0	T	10529724	G	T	10529724	3	4	88	1	0	0	0	0	1	0	0	0	6344	942	33	3	582	3	GCNT2	6	10529724	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110025	10529724	160585343	6797	14509											
GCNT2	2651	broad.mit.edu	37	chr6	10556976	10556976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccatcatcactttgacaCctttgcaaggctcttcaggg	7	13	4	1	rs56142502		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10556976C>T	ENST00000316170.3	+	1	737	c.320C>T	c.(319-321)aCc>aTc	p.T107I	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	109						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CACTTTGACACCTTTGCAAGG	0.418													False	0	False	6:10556976	0	T	10556976	C	T	10556976	3	4	88	1	0	0	0	0	1	0	0	0	6344	507	18	2	1251	2	GCNT2	6	10556976	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27252	10556976	160558091	6798	14510											
PAK1IP1	55003	broad.mit.edu	37	chr6	10697608	10697608	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctcacactgcctccttgTcagcagtagctgtaaatagt	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10697608T>C	ENST00000379568.3	+	2	427	c.136T>C	c.(136-138)Tca>Cca	p.S46P		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	46					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TGCCTCCTTGTCAGCAGTAGC	0.428													False	0	False	6:10697608	0	C	10697608	T	C	10697608	3	2	88	1	0	0	0	0	1	0	0	0	11468	1667	58	4	142	4	PAK1IP1	6	10697608	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140632	10697608	160417459	6799	14511											
PAK1IP1	55003	broad.mit.edu	37	chr6	10709602	10709603	+	In_Frame_Ins	INS	-	-	CTTTTAAAAAAA													gaaagcaacaaaagaaagtgINSgcctgatatcaaccaagaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10709602_10709603insCTTTTAAAAAAA	ENST00000379568.3	+	10	1387_1388	c.1096_1097insCTTTTAAAAAAA	c.(1096-1098)ggc>gCTTTTAAAAAAAgc	p.366_366G>AFKKS		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	366					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				AAAAGAAAGTGGCCTGATATCA	0.396													False	0	False	6:10709602	0	CTTTTAAAAAAA	10709603	-	CTTTTAAAAAAA	10709602	7	5	88	1	0	1	1	0	0	0	0	0	11468	1348	47	0	1134	0	PAK1IP1	6	10709602	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	11994	10709602	160405465	6800	14512											
TMEM14B	81853	broad.mit.edu	37	chr6	10751401	10751401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcagggctgctcttcGgcagtctagccggcctgggt	16	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10751401G>A	ENST00000467317.1	+	4	231	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	TMEM14B_ENST00000475942.1_Missense_Mutation_p.G46S|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000481240.1_Intron|TMEM14B_ENST00000379542.5_Missense_Mutation_p.G46S|TMEM14B_ENST00000461342.1_Intron|TMEM14B_ENST00000473276.1_Intron|TMEM14B_ENST00000379530.3_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000491103.1_3'UTR			Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	46						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GCTGCTCTTCGGCAGTCTAGC	0.542													False	0	False	6:10751401	0	A	10751401	G	A	10751401	3	1	88	1	0	0	0	0	1	0	0	0	16146	1116	39	1	146	1	TMEM14B	6	10751401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41799	10751401	160363666	6801	14513											
GCM2	9247	broad.mit.edu	37	chr6	10874435	10874435	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgaaggagaggctgcCctggtgactgtcaccggagg	17	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10874435C>T	ENST00000379491.4	-	5	1461	c.1314G>A	c.(1312-1314)agG>agA	p.R438R	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	438					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAGAGGCTGCCCTGGTGACTG	0.557													False	0	True	6:10874435	0	T	10874435	C	T	10874435	2	4	88	1	0	0	0	0	0	0	0	1	6341	622	22	2		2	GCM2	6	10874435	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123034	10874435	160240632	6802	14514											
GCM2	9247	broad.mit.edu	37	chr6	10874603	10874603	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actttagtggtggtggtgatCacggtttgtagggcaggggc	18	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10874603C>A	ENST00000379491.4	-	5	1293	c.1146G>T	c.(1144-1146)gtG>gtT	p.V382V	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	382			V -> M (does not affect expression level, transactivational capacity and DNA binding ability).		cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGGTGGTGATCACGGTTTGTA	0.557													False	0	False	6:10874603	0	A	10874603	C	A	10874603	2	1	88	1	0	0	0	0	0	0	0	1	6341	813	29	3		3	GCM2	6	10874603	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	10874603	160240464	6803	14515											
GCM2	9247	broad.mit.edu	37	chr6	10877453	10877453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcagggtgcaggcctgtGtacacaccaccacacccagg	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10877453G>A	ENST00000379491.4	-	2	410	c.263C>T	c.(262-264)aCa>aTa	p.T88I	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	88					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GCAGGCCTGTGTACACACCAC	0.632													False	0	False	6:10877453	0	A	10877453	G	A	10877453	3	1	88	1	0	0	0	0	1	0	0	0	6341	1377	48	2	1273	2	GCM2	6	10877453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2850	10877453	160237614	6804	14516											
GCM2	9247	broad.mit.edu	37	chr6	10877516	10877516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgtggttgttggtgttgCgcatggcccagccgctcagg	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10877516C>T	ENST00000379491.4	-	2	347	c.200G>A	c.(199-201)cGc>cAc	p.R67H	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	67					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	p.R67H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GTTGGTGTTGCGCATGGCCCA	0.597													False	0	False	6:10877516	0	T	10877516	C	T	10877516	3	4	88	1	0	0	0	0	1	0	0	0	6341	768	27	1	1336	1	GCM2	6	10877516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	10877516	160237551	6805	14517											
SYCP2L	221711	broad.mit.edu	37	chr6	10927525	10927525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatgagtgctgaagatgaCcgctgcctaataactctcca	8	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10927525C>T	ENST00000283141.6	+	17	1661	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	455						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CTGAAGATGACCGCTGCCTAA	0.413													False	0	False	6:10927525	0	T	10927525	C	T	10927525	2	4	88	1	0	0	0	0	0	0	0	1	15515	506	18	2		2	SYCP2L	6	10927525	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50009	10927525	160187542	6806	14518											
HIVEP1	3096	broad.mit.edu	37	chr6	12123223	12123223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtttcagaatgctctgggCtgtaatcccagtttgcctaa	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12123223C>T	ENST00000379388.2	+	4	3527	c.3195C>T	c.(3193-3195)ggC>ggT	p.G1065G		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1065					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATGCTCTGGGCTGTAATCCCA	0.403													False	0	True	6:12123223	0	T	12123223	C	T	12123223	2	4	88	1	0	0	0	0	0	0	0	1	7233	784	28	2		2	HIVEP1	6	12123223	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1195698	12123223	158991844	6807	14519											
HIVEP1	3096	broad.mit.edu	37	chr6	12123531	12123531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccaggagctgaatagaaCggggaagtccgggtctctaa	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12123531C>T	ENST00000379388.2	+	4	3835	c.3503C>T	c.(3502-3504)aCg>aTg	p.T1168M		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1168					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTGAATAGAACGGGGAAGTCC	0.527													False	0	True	6:12123531	0	T	12123531	C	T	12123531	3	4	88	1	0	0	0	0	1	0	0	0	7233	536	19	1	3513	1	HIVEP1	6	12123531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308	12123531	158991536	6808	14520											
HIVEP1	3096	broad.mit.edu	37	chr6	12124078	12124078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttatgattccagctggCttgaatactctgaatgttcc	7	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12124078C>T	ENST00000379388.2	+	4	4382	c.4050C>T	c.(4048-4050)ggC>ggT	p.G1350G		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1350					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTCCAGCTGGCTTGAATACTC	0.438													False	0	False	6:12124078	0	T	12124078	C	T	12124078	2	4	88	1	0	0	0	0	0	0	0	1	7233	784	28	2		2	HIVEP1	6	12124078	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	547	12124078	158990989	6809	14521											
HIVEP1	3096	broad.mit.edu	37	chr6	12125318	12125318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggaaaagcaccagaagCgggccaaagatgaaaatgga	12	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12125318C>T	ENST00000379388.2	+	4	5622	c.5290C>T	c.(5290-5292)Cgg>Tgg	p.R1764W		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1764					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCACCAGAAGCGGGCCAAAGA	0.438													False	0	True	6:12125318	0	T	12125318	C	T	12125318	3	4	88	1	0	0	0	0	1	0	0	0	7233	759	27	1	5300	1	HIVEP1	6	12125318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1240	12125318	158989749	6810	14522											
HIVEP1	3096	broad.mit.edu	37	chr6	12161698	12161698	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagagattcagttatgagCgatctggatatgatcttgaa	10	5	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12161698C>T	ENST00000379388.2	+	8	6846	c.6514C>T	c.(6514-6516)Cga>Tga	p.R2172*	HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2172					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGTTATGAGCGATCTGGATA	0.383													False	0	False	6:12161698	0	T	12161698	C	T	12161698	4	4	88	1	0	0	0	0	0	1	0	0	7233	760	27	1	6540	1	HIVEP1	6	12161698	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36380	12161698	158953369	6811	14523											
EDN1	1906	broad.mit.edu	37	chr6	12292728	12292728	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccacctggacatcatttgGgtcaacactcccgagtaagt	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12292728G>A	ENST00000379375.5	+	2	486	c.219G>A	c.(217-219)tgG>tgA	p.W73*		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	73		Cleavage; by KEL.			artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				ACATCATTTGGGTCAACACTC	0.542													False	0	True	6:12292728	0	A	12292728	G	A	12292728	4	1	88	1	0	0	0	0	0	1	0	0	4946	1241	43	2	225	2	EDN1	6	12292728	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131030	12292728	158822339	6812	14524											
PHACTR1	221692	broad.mit.edu	37	chr6	13206049	13206049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctctttctgccacagatCctggcgcccctgtgaaattg	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13206049C>T	ENST00000379350.1	+	7	796	c.667C>T	c.(667-669)Cct>Tct	p.P223S	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P223S|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P78S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	223						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGCCACAGATCCTGGCGCCCC	0.562													False	0	False	6:13206049	0	T	13206049	C	T	13206049	3	4	88	1	0	0	0	0	1	0	0	0	11878	855	30	2	689	2	PHACTR1	6	13206049	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	913321	13206049	157909018	6813	14525											
PHACTR1	221692	broad.mit.edu	37	chr6	13206106	13206106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactgtcgcctccgctacctCcaaagaaagtcatgatctgt	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13206106C>T	ENST00000379350.1	+	7	853	c.724C>T	c.(724-726)Cca>Tca	p.P242S	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P242S|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P97S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	242						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCGCTACCTCCAAAGAAAGT	0.592													False	0	False	6:13206106	0	T	13206106	C	T	13206106	3	4	88	1	0	0	0	0	1	0	0	0	11878	855	30	2	746	2	PHACTR1	6	13206106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57	13206106	157908961	6814	14526											
TBC1D7	51256	broad.mit.edu	37	chr6	13316855	13316855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaattggttcacaaagcgtCgggtgatccagtaacagtcg	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13316855C>T	ENST00000607658.1	-	4	536	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	TBC1D7_ENST00000379307.2_Missense_Mutation_p.R129Q|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R156Q|TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379300.3_Missense_Mutation_p.R156Q			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	156	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CACAAAGCGTCGGGTGATCCA	0.428													False	0	True	6:13316855	0	T	13316855	C	T	13316855	3	4	88	1	0	0	0	0	1	0	0	0	15706	884	31	1	430	1	TBC1D7	6	13316855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110749	13316855	157798212	6815	14527											
GFOD1	54438	broad.mit.edu	37	chr6	13365177	13365177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccgcccatcccacgtgCgccggtcgtcctggtcctgg	15	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13365177C>T	ENST00000379287.3	-	2	1635	c.971G>A	c.(970-972)cGc>cAc	p.R324H	GFOD1_ENST00000379284.1_Missense_Mutation_p.R221H	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	324						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATCCCACGTGCGCCGGTCGTC	0.672													False	0	False	6:13365177	0	T	13365177	C	T	13365177	3	4	88	1	0	0	0	0	1	0	0	0	6388	768	27	1	205	1	GFOD1	6	13365177	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48322	13365177	157749890	6816	14528											
JARID2	3720	broad.mit.edu	37	chr6	15410493	15410493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtctaagggattaggaccaGcatcagaacagtcagagaat	11	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15410493G>T	ENST00000341776.2	+	3	464	c.220G>T	c.(220-222)Gca>Tca	p.A74S	JARID2_ENST00000541660.1_Missense_Mutation_p.A36S|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	74					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATTAGGACCAGCATCAGAACA	0.463													False	0	False	6:15410493	0	T	15410493	G	T	15410493	3	4	88	1	0	0	0	0	1	0	0	0	7995	971	34	3	230	3	JARID2	6	15410493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2045316	15410493	155704574	6817	14529											
JARID2	3720	broad.mit.edu	37	chr6	15468794	15468794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctgcgctgcccaacaGcatggtgtattttggaagct	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15468794G>T	ENST00000341776.2	+	5	759	c.515G>T	c.(514-516)aGc>aTc	p.S172I	JARID2_ENST00000541660.1_Missense_Mutation_p.S134I|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	172					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.S172I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTGCCCAACAGCATGGTGTAT	0.473													False	0	False	6:15468794	0	T	15468794	G	T	15468794	3	4	88	1	0	0	0	0	1	0	0	0	7995	971	34	3	533	3	JARID2	6	15468794	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58301	15468794	155646273	6818	14530											
JARID2	3720	broad.mit.edu	37	chr6	15497082	15497082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggactcgggcaaggcCgagaagggcggcggcaaggc	19	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15497082C>T	ENST00000341776.2	+	7	1870	c.1626C>T	c.(1624-1626)gcC>gcT	p.A542A	JARID2_ENST00000541660.1_Silent_p.A504A|JARID2_ENST00000397311.3_Silent_p.A370A	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	542					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGGGCAAGGCCGAGAAGGGCG	0.647													False	0	False	6:15497082	0	T	15497082	C	T	15497082	2	4	88	1	0	0	0	0	0	0	0	1	7995	639	23	1		1	JARID2	6	15497082	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28288	15497082	155617985	6819	14531											
JARID2	3720	broad.mit.edu	37	chr6	15507618	15507618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctccccaataacacagggtCcatcctgcgtcacctcggtg	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15507618C>T	ENST00000341776.2	+	11	2946	c.2702C>T	c.(2701-2703)tCc>tTc	p.S901F	JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.S863F|JARID2_ENST00000397311.3_Missense_Mutation_p.S729F	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	901	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AACACAGGGTCCATCCTGCGT	0.592													False	0	False	6:15507618	0	T	15507618	C	T	15507618	3	4	88	1	0	0	0	0	1	0	0	0	7995	855	30	2	2744	2	JARID2	6	15507618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10536	15507618	155607449	6820	14532											
MYLIP	29116	broad.mit.edu	37	chr6	16141919	16141919	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcttgtgttccccagaGcaggcagtggaactcagtgc	11	13	2	1	rs139469255	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16141919G>A	ENST00000356840.3	+	3	540	c.342G>A	c.(340-342)gaG>gaA	p.E114E	MYLIP_ENST00000349606.4_5'UTR	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	114	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GTTCCCCAGAGCAGGCAGTGG	0.532													False	0	True	6:16141919	0	A	16141919	G	A	16141919	2	1	88	1	0	0	0	0	0	0	0	1	10122	962	34	2		2	MYLIP	6	16141919	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	634301	16141919	154973148	6821	14533											
GMPR	2766	broad.mit.edu	37	chr6	16254937	16254937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaattcgtgaaacttgtcCgtgccaaatttcctgaacac	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16254937C>T	ENST00000259727.4	+	4	550	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	146					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GAAACTTGTCCGTGCCAAATT	0.448													False	0	False	6:16254937	0	T	16254937	C	T	16254937	3	4	88	1	0	0	0	0	1	0	0	0	6541	652	23	1	450	1	GMPR	6	16254937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113018	16254937	154860130	6822	14534											
ATXN1	6310	broad.mit.edu	37	chr6	16326701	16326701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttcaatcctctctacgGtgctggagtcgatcttcagg	10	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16326701G>A	ENST00000244769.4	-	8	2777	c.1841C>T	c.(1840-1842)aCc>aTc	p.T614I	ATXN1_ENST00000436367.1_Missense_Mutation_p.T614I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	614	AXH.|Interaction with USP7.|RNA-binding.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCTCTCTACGGTGCTGGAGTC	0.552													False	0	False	6:16326701	0	A	16326701	G	A	16326701	3	1	88	1	0	0	0	0	1	0	0	0	1213	1261	44	2	614	2	ATXN1	6	16326701	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71764	16326701	154788366	6823	14535											
CAP2	10486	broad.mit.edu	37	chr6	17426835	17426835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaggtgtggcaccctccGtggaagcctttgacaagctg	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17426835G>A	ENST00000229922.2	+	3	668	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	CAP2_ENST00000378990.2_Missense_Mutation_p.V46M|CAP2_ENST00000489374.1_Missense_Mutation_p.V46M|CAP2_ENST00000493172.1_Missense_Mutation_p.V46M|CAP2_ENST00000465994.1_Missense_Mutation_p.V46M	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	46					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGCACCCTCCGTGGAAGCCTT	0.527													False	0	False	6:17426835	0	A	17426835	G	A	17426835	3	1	88	1	0	0	0	0	1	0	0	0	2640	1145	40	1	142	1	CAP2	6	17426835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1100134	17426835	153688232	6824	14536											
NUP153	9972	broad.mit.edu	37	chr6	17626368	17626368	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggaactgttgttcaagaaaCtaaaaactggctttgctgca	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17626368C>G	ENST00000262077.2	-	19	3571	c.3572G>C	c.(3571-3573)aGt>aCt	p.S1191T	NUP153_ENST00000537253.1_Missense_Mutation_p.S1222T	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1191					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTTCAAGAAACTAAAAACTGG	0.413													False	0	True	6:17626368	0	G	17626368	C	G	17626368	3	3	88	1	0	0	0	0	1	0	0	0	10823	565	20	5	871	5	NUP153	6	17626368	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199533	17626368	153488699	6825	14537											
NUP153	9972	broad.mit.edu	37	chr6	17661976	17661976	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagaagataaaccattggCtgcaggcaaactgaaatttg	9	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17661976C>A	ENST00000262077.2	-	11	1302	c.1303G>T	c.(1303-1305)Gcc>Tcc	p.A435S	NUP153_ENST00000537253.1_Missense_Mutation_p.A435S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	435					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AAACCATTGGCTGCAGGCAAA	0.398													False	0	False	6:17661976	0	A	17661976	C	A	17661976	3	1	88	1	0	0	0	0	1	0	0	0	10823	797	28	3	3172	3	NUP153	6	17661976	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35608	17661976	153453091	6826	14538											
NUP153	9972	broad.mit.edu	37	chr6	17688685	17688685	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccatcagtaatattagagctCtcctcatcggcatataccag	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17688685C>A	ENST00000262077.2	-	2	275	c.276G>T	c.(274-276)gaG>gaT	p.E92D	NUP153_ENST00000537253.1_Missense_Mutation_p.E92D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	92					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TATTAGAGCTCTCCTCATCGG	0.413													False	0	False	6:17688685	0	A	17688685	C	A	17688685	3	1	88	1	0	0	0	0	1	0	0	0	10823	912	32	3	4235	3	NUP153	6	17688685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26709	17688685	153426382	6827	14539											
KIF13A	63971	broad.mit.edu	37	chr6	17777518	17777518	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgcacttacattatgaacaTttggtgtactgaggctcctc	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17777518T>A	ENST00000378814.5	-	33	4120	c.4121A>T	c.(4120-4122)aAt>aTt	p.N1374I	KIF13A_ENST00000378843.2_Missense_Mutation_p.N1374I|KIF13A_ENST00000378816.5_Missense_Mutation_p.N1387I|KIF13A_ENST00000378826.2_Missense_Mutation_p.N1387I|KIF13A_ENST00000259711.6_Missense_Mutation_p.N1387I	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1387					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATTATGAACATTTGGTGTACT	0.478													False	0	True	6:17777518	0	A	17777518	T	A	17777518	3	1	88	1	0	0	0	0	1	0	0	0	8324	1493	52	5	1306	5	KIF13A	6	17777518	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88833	17777518	153337549	6828	14540											
KIF13A	63971	broad.mit.edu	37	chr6	17788054	17788054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcatccaggtattctcgtCgtttaatgagtgcatctgac	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17788054C>T	ENST00000378814.5	-	26	3274	c.3275G>A	c.(3274-3276)cGa>cAa	p.R1092Q	KIF13A_ENST00000378843.2_Missense_Mutation_p.R1092Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1105Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1105Q|KIF13A_ENST00000259711.6_Missense_Mutation_p.R1105Q	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1105					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTATTCTCGTCGTTTAATGAG	0.393													False	0	False	6:17788054	0	T	17788054	C	T	17788054	3	4	88	1	0	0	0	0	1	0	0	0	8324	884	31	1	2180	1	KIF13A	6	17788054	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10536	17788054	153327013	6829	14541											
KIF13A	63971	broad.mit.edu	37	chr6	17826038	17826038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgataacttccatctgtgCaaattcatagttatagtctg	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17826038C>T	ENST00000378814.5	-	16	1746	c.1747G>A	c.(1747-1749)Gca>Aca	p.A583T	KIF13A_ENST00000378843.2_Missense_Mutation_p.A583T|KIF13A_ENST00000378816.5_Missense_Mutation_p.A583T|KIF13A_ENST00000378826.2_Missense_Mutation_p.A583T|KIF13A_ENST00000259711.6_Missense_Mutation_p.A583T	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	583					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCCATCTGTGCAAATTCATAG	0.468													False	0	True	6:17826038	0	T	17826038	C	T	17826038	3	4	88	1	0	0	0	0	1	0	0	0	8324	710	25	2	3791	2	KIF13A	6	17826038	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37984	17826038	153289029	6830	14542											
KIF13A	63971	broad.mit.edu	37	chr6	17850613	17850613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaacacagcatgggagcGgctgctttcttcgttcatgt	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17850613G>A	ENST00000378814.5	-	8	657	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	KIF13A_ENST00000378843.2_Missense_Mutation_p.R220C|KIF13A_ENST00000378816.5_Missense_Mutation_p.R220C|KIF13A_ENST00000378826.2_Missense_Mutation_p.R220C|KIF13A_ENST00000259711.6_Missense_Mutation_p.R220C	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	220	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCATGGGAGCGGCTGCTTTCT	0.468													False	0	False	6:17850613	0	A	17850613	G	A	17850613	3	1	88	1	0	0	0	0	1	0	0	0	8324	1116	39	1	4912	1	KIF13A	6	17850613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24575	17850613	153264454	6831	14543											
NHLRC1	378884	broad.mit.edu	37	chr6	18122317	18122317	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacatccacagggtacctaAtgtcttgggcagcgtccccc	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18122317A>C	ENST00000340650.3	-	1	534	c.521T>G	c.(520-522)aTt>aGt	p.I174S		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	174					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			AGGGTACCTAATGTCTTGGGC	0.552													False	0	False	6:18122317	0	C	18122317	A	C	18122317	3	2	88	1	0	0	0	0	1	0	0	0	10473	101	4	4	670	4	NHLRC1	6	18122317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	271704	18122317	152992750	6832	14544											
KDM1B	221656	broad.mit.edu	37	chr6	18197423	18197423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacactggagttctcagcGtgggagccgaccagtatctt	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18197423G>A	ENST00000388870.2	+	11	1346	c.1105G>A	c.(1105-1107)Gtg>Atg	p.V369M	KDM1B_ENST00000297792.5_Missense_Mutation_p.V237M|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Missense_Mutation_p.V237M			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	369	SWIRM.				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						AGTTCTCAGCGTGGGAGCCGA	0.478													False	0	False	6:18197423	0	A	18197423	G	A	18197423	3	1	88	1	0	0	0	0	1	0	0	0	8173	1145	40	1	735	1	KDM1B	6	18197423	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75106	18197423	152917644	6833	14545											
KDM1B	221656	broad.mit.edu	37	chr6	18208416	18208416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttaccactacagatggCacagggtattctgcacaaaa	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18208416C>T	ENST00000388870.2	+	17	2089	c.1848C>T	c.(1846-1848)ggC>ggT	p.G616G	KDM1B_ENST00000297792.5_Silent_p.G383G|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Silent_p.G384G			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	615					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CTACAGATGGCACAGGGTATT	0.463													False	0	False	6:18208416	0	T	18208416	C	T	18208416	2	4	88	1	0	0	0	0	0	0	0	1	8173	697	25	2		2	KDM1B	6	18208416	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10993	18208416	152906651	6834	14546											
KDM1B	221656	broad.mit.edu	37	chr6	18215253	18215253	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagaagaagcacagcgtgCtgatgtctgtgattgccggg	14	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18215253C>A	ENST00000388870.2	+	20	2369	c.2128C>A	c.(2128-2130)Ctg>Atg	p.L710M	KDM1B_ENST00000297792.5_Missense_Mutation_p.L477M|KDM1B_ENST00000546309.2_5'UTR|KDM1B_ENST00000397244.1_Missense_Mutation_p.L478M			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	709					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GCACAGCGTGCTGATGTCTGT	0.527													False	0	False	6:18215253	0	A	18215253	C	A	18215253	3	1	88	1	0	0	0	0	1	0	0	0	8173	796	28	3	1483	3	KDM1B	6	18215253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6837	18215253	152899814	6835	14547											
KDM1B	221656	broad.mit.edu	37	chr6	18215342	18215342	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcatggccacgctccgGgagctgttcaaggagcaggt	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18215342G>T	ENST00000388870.2	+	20	2458	c.2217G>T	c.(2215-2217)cgG>cgT	p.R739R	KDM1B_ENST00000297792.5_Silent_p.R506R|KDM1B_ENST00000546309.2_Silent_p.R29R|KDM1B_ENST00000397244.1_Silent_p.R507R			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	738					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CCACGCTCCGGGAGCTGTTCA	0.607													False	0	True	6:18215342	0	T	18215342	G	T	18215342	2	4	88	1	0	0	0	0	0	0	0	1	8173	1219	43	3		3	KDM1B	6	18215342	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89	18215342	152899725	6836	14548											
RNF144B	255488	broad.mit.edu	37	chr6	18439941	18439941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttggtacctgtggaccaGtttcaactttatcagaggtt	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18439941G>A	ENST00000259939.3	+	4	614	c.297G>A	c.(295-297)caG>caA	p.Q99Q	RNF144B_ENST00000429054.2_Intron	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	99					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CTGTGGACCAGTTTCAACTTT	0.378													False	0	True	6:18439941	0	A	18439941	G	A	18439941	2	1	88	1	0	0	0	0	0	0	0	1	13525	1020	36	2		2	RNF144B	6	18439941	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224599	18439941	152675126	6837	14549											
MBOAT1	154141	broad.mit.edu	37	chr6	20102597	20102597	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggtttcattggcagaaAtagtattatcaggagactta	10	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20102597A>T	ENST00000541730.1	-	12	1556	c.961T>A	c.(961-963)Ttt>Att	p.F321I	MBOAT1_ENST00000324607.7_Missense_Mutation_p.F470I			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	470					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ATTGGCAGAAATAGTATTATC	0.353													False	0	True	6:20102597	0	T	20102597	A	T	20102597	3	4	88	1	0	0	0	0	1	0	0	0	9423	101	4	5	83	5	MBOAT1	6	20102597	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1662656	20102597	151012470	6838	14550											
E2F3	1871	broad.mit.edu	37	chr6	20402509	20402509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcagtacctggtgaccGccgggggtggggagggggcg	23	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20402509G>A	ENST00000346618.3	+	1	112	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	16					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CCTGGTGACCGCCGGGGGTGG	0.607													False	0	False	6:20402509	0	A	20402509	G	A	20402509	3	1	88	1	0	0	0	0	1	0	0	0	4898	1087	38	1	48	1	E2F3	6	20402509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299912	20402509	150712558	6839	14551											
CDKAL1	54901	broad.mit.edu	37	chr6	20546630	20546630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgacatcgaagatatcGtgtctcaggaagattcaaaa	10	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20546630G>A	ENST00000274695.4	+	3	216	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	CDKAL1_ENST00000378624.4_5'UTR|CDKAL1_ENST00000378610.1_Missense_Mutation_p.V17M	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	17					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CGAAGATATCGTGTCTCAGGA	0.368													False	0	False	6:20546630	0	A	20546630	G	A	20546630	3	1	88	1	0	0	0	0	1	0	0	0	3175	1145	40	1	51	1	CDKAL1	6	20546630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144121	20546630	150568437	6840	14552											
CDKAL1	54901	broad.mit.edu	37	chr6	20781393	20781393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcactctgtgagactgCtgggtcagaaaaaggataat	12	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20781393C>T	ENST00000274695.4	+	8	702	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	CDKAL1_ENST00000378624.4_Silent_p.L109L|RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378610.1_Silent_p.L179L	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	179					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGTGAGACTGCTGGGTCAGAA	0.398													False	0	False	6:20781393	0	T	20781393	C	T	20781393	2	4	88	1	0	0	0	0	0	0	0	1	3175	796	28	2		2	CDKAL1	6	20781393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	234763	20781393	150333674	6841	14553											
PRL	5617	broad.mit.edu	37	chr6	22290434	22290434	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagctccatgccctctagaAgccgtttggtttgctcctca	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:22290434A>C	ENST00000306482.1	-	4	979	c.461T>G	c.(460-462)cTt>cGt	p.L154R	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	154					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GCCCTCTAGAAGCCGTTTGGT	0.483													False	0	False	6:22290434	0	C	22290434	A	C	22290434	3	2	88	1	0	0	0	0	1	0	0	0	12604	72	3	4	230	4	PRL	6	22290434	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1509041	22290434	148824633	6842	14554											
PRL	5617	broad.mit.edu	37	chr6	22290448	22290448	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagaagccgtttggtttgCtcctcaatctctacagcttt	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:22290448C>T	ENST00000306482.1	-	4	965	c.447G>A	c.(445-447)gaG>gaA	p.E149E	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	149					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GTTTGGTTTGCTCCTCAATCT	0.502													False	0	False	6:22290448	0	T	22290448	C	T	22290448	2	4	88	1	0	0	0	0	0	0	0	1	12604	796	28	2		2	PRL	6	22290448	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	22290448	148824619	6843	14555											
DCDC2	51473	broad.mit.edu	37	chr6	24291177	24291177	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacccaaaaggccttctcatCgttgacttgtcaaaaagtaa	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24291177C>T	ENST00000378454.3	-	5	988	c.687G>A	c.(685-687)acG>acA	p.T229T		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	229					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GCCTTCTCATCGTTGACTTGT	0.413													False	0	False	6:24291177	0	T	24291177	C	T	24291177	2	4	88	1	0	0	0	0	0	0	0	1	4310	871	31	1		1	DCDC2	6	24291177	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2000729	24291177	146823890	6844	14556											
GPLD1	2822	broad.mit.edu	37	chr6	24429337	24429337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccttccagcagcaatgaCgacttggttctgtaagggac	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24429337C>T	ENST00000230036.1	-	25	2556	c.2446G>A	c.(2446-2448)Gtc>Atc	p.V816I		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	816						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCAGCAATGACGACTTGGTTC	0.468													False	0	False	6:24429337	0	T	24429337	C	T	24429337	3	4	88	1	0	0	0	0	1	0	0	0	6660	536	19	1	80	1	GPLD1	6	24429337	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138160	24429337	146685730	6845	14557											
ALDH5A1	7915	broad.mit.edu	37	chr6	24515440	24515440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtgtatacaatgttattCcctgttctcgaaagaatgcc	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24515440C>T	ENST00000357578.3	+	5	917	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.P230S|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.P271S|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.P170S	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	258					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CAATGTTATTCCCTGTTCTCG	0.403													False	0	True	6:24515440	0	T	24515440	C	T	24515440	3	4	88	1	0	0	0	0	1	0	0	0	502	855	30	2	833	2	ALDH5A1	6	24515440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86103	24515440	146599627	6846	14558											
ALDH5A1	7915	broad.mit.edu	37	chr6	24533936	24533937	+	Frame_Shift_Ins	INS	-	-	GAGA													tatgtgtgttacgggggcttINSgtaggattctttggttcttt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24533936_24533937insGAGA	ENST00000491546.1	+	9	1650_1651	c.1520_1521insGAGA	c.(1519-1524)ttgtagfs	p.*508fs	ALDH5A1_ENST00000546278.1_Frame_Shift_Ins_p.*448fs|ALDH5A1_ENST00000357578.3_Frame_Shift_Ins_p.*536fs|ALDH5A1_ENST00000348925.2_Frame_Shift_Ins_p.*549fs			P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	0					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	p.L548F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TACGGGGGCTTGTAGGATTCTT	0.396													False	0	False	6:24533936	0	GAGA	24533937	-	GAGA	24533936	7	5	88	1	0	1	1	0	0	0	0	0	502	1821	63	0	1685	0	ALDH5A1	6	24533936	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	18496	24533936	146581131	6847	14559											
KIAA0319	9856	broad.mit.edu	37	chr6	24572854	24572854	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agactgttgccttgaagaatCtgtcaccttcagctgaaatg	9	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24572854C>A	ENST00000535378.1	-	12	2422	c.1780G>T	c.(1780-1782)Gat>Tat	p.D594Y	KIAA0319_ENST00000378214.3_Missense_Mutation_p.D603Y|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D603Y|KIAA0319_ENST00000430948.2_Missense_Mutation_p.D558Y|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D603Y	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	603	PKD 3.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTTGAAGAATCTGTCACCTTC	0.413													False	0	False	6:24572854	0	A	24572854	C	A	24572854	3	1	88	1	0	0	0	0	1	0	0	0	8218	913	32	3	1455	3	KIAA0319	6	24572854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38918	24572854	146542213	6848	14560											
TDP2	51567	broad.mit.edu	37	chr6	24651141	24651141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtccctcttctgctgctgCtctgaaaaatattcgatcaa	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24651141C>T	ENST00000341060.3	-	6	1185	c.790G>A	c.(790-792)Gca>Aca	p.A264T	TDP2_ENST00000378198.4_Missense_Mutation_p.A322T|TDP2_ENST00000545995.1_Missense_Mutation_p.A352T			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	322					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TCTGCTGCTGCTCTGAAAAAT	0.403								Direct reversal of damage					False	0	True	6:24651141	0	T	24651141	C	T	24651141	3	4	88	1	0	0	0	0	1	0	0	0	15811	797	28	2	128	2	TDP2	6	24651141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78287	24651141	146463926	6849	14561											
C6orf62	81688	broad.mit.edu	37	chr6	24709066	24709066	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	taggattgttgacaacgattCcagtcttgtccttgcggctc	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24709066C>A	ENST00000378119.4	-	4	2670	c.503G>T	c.(502-504)gGa>gTa	p.G168V	C6orf62_ENST00000540769.1_Missense_Mutation_p.G110V|C6orf62_ENST00000378102.3_Missense_Mutation_p.G139V	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	168						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GACAACGATTCCAGTCTTGTC	0.383													False	0	False	6:24709066	0	A	24709066	C	A	24709066	3	1	88	1	0	0	0	0	1	0	0	0	2386	855	30	3	194	3	C6orf62	6	24709066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57925	24709066	146406001	6850	14562											
LRRC16A	55604	broad.mit.edu	37	chr6	25450163	25450163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccatggagccatctgagCgcctggctagtctccaggcg	12	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25450163C>T	ENST00000329474.6	+	6	777	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	137					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCATCTGAGCGCCTGGCTAG	0.468													False	0	False	6:25450163	0	T	25450163	C	T	25450163	3	4	88	1	0	0	0	0	1	0	0	0	9033	768	27	1	431	1	LRRC16A	6	25450163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	741097	25450163	145664904	6851	14563											
LRRC16A	55604	broad.mit.edu	37	chr6	25466164	25466164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcacaaaactgtcctctaaGgatctaaaactggtaagtaa	6	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25466164G>T	ENST00000329474.6	+	9	1046	c.678G>T	c.(676-678)aaG>aaT	p.K226N	LRRC16A_ENST00000377969.3_Missense_Mutation_p.K65N	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	226					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGTCCTCTAAGGATCTAAAAC	0.363													False	0	False	6:25466164	0	T	25466164	G	T	25466164	3	4	88	1	0	0	0	0	1	0	0	0	9033	991	35	3	712	3	LRRC16A	6	25466164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16001	25466164	145648903	6852	14564											
LRRC16A	55604	broad.mit.edu	37	chr6	25488745	25488745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcagtcactcagtgccaatCcattgaccgcctctaccctt	5	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25488745C>T	ENST00000329474.6	+	13	1365	c.997C>T	c.(997-999)Cca>Tca	p.P333S		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	333					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGTGCCAATCCATTGACCGC	0.468													False	0	False	6:25488745	0	T	25488745	C	T	25488745	3	4	88	1	0	0	0	0	1	0	0	0	9033	855	30	2	1047	2	LRRC16A	6	25488745	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22581	25488745	145626322	6853	14565											
LRRC16A	55604	broad.mit.edu	37	chr6	25495362	25495362	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggaaaagaagtacctccatCtttcaagcaattttttagta	6	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25495362C>T	ENST00000329474.6	+	16	1612	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	415					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTACCTCCATCTTTCAAGCAA	0.373													False	0	True	6:25495362	0	T	25495362	C	T	25495362	3	4	88	1	0	0	0	0	1	0	0	0	9033	913	32	2	1306	2	LRRC16A	6	25495362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6617	25495362	145619705	6854	14566											
LRRC16A	55604	broad.mit.edu	37	chr6	25515950	25515950	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgaaactcaagactgaggtCaccatcatcatcaatgccct	6	13	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25515950C>A	ENST00000329474.6	+	21	2048	c.1680C>A	c.(1678-1680)gtC>gtA	p.V560V		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	560					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGACTGAGGTCACCATCATCA	0.557													False	0	False	6:25515950	0	A	25515950	C	A	25515950	2	1	88	1	0	0	0	0	0	0	0	1	9033	813	29	3		3	LRRC16A	6	25515950	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20588	25515950	145599117	6855	14567											
SCGN	10590	broad.mit.edu	37	chr6	25670258	25670258	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agacctctttcttcaccacaAaaaggccatttctgaggcta	6	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25670258A>T	ENST00000377961.2	+	6	593	c.425A>T	c.(424-426)aAa>aTa	p.K142I	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	142						extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTTCACCACAAAAAGGCCATT	0.453													False	0	True	6:25670258	0	T	25670258	A	T	25670258	3	4	88	1	0	0	0	0	1	0	0	0	13984	14	1	5	447	5	SCGN	6	25670258	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	154308	25670258	145444809	6856	14568											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726479	25726479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccaaaagcttattgagttCctcatcattgcggatcgcta	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25726479C>T	ENST00000297012.3	-	1	311	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	93					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTATTGAGTTCCTCATCATTG	0.542													False	0	False	6:25726479	0	T	25726479	C	T	25726479	3	4	88	1	0	0	0	0	1	0	0	0	7175	864	30	2	122	2	HIST1H2AA	6	25726479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56221	25726479	145388588	6857	14569											
SLC17A4	10050	broad.mit.edu	37	chr6	25769379	25769379	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccctccactgactcccaGggctactggaatgaaactct	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25769379G>A	ENST00000377905.4	+	3	377	c.258G>A	c.(256-258)caG>caA	p.Q86Q	SLC17A4_ENST00000397076.2_Silent_p.Q32Q|SLC17A4_ENST00000439485.2_Silent_p.Q86Q	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	86					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGACTCCCAGGGCTACTGGA	0.428													False	0	True	6:25769379	0	A	25769379	G	A	25769379	2	1	88	1	0	0	0	0	0	0	0	1	14500	991	35	2		2	SLC17A4	6	25769379	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42900	25769379	145345688	6858	14570											
SLC17A4	10050	broad.mit.edu	37	chr6	25771219	25771219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccagaccataggatggCcttacgtcttctatatcttt	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25771219C>T	ENST00000377905.4	+	6	804	c.685C>T	c.(685-687)Cct>Tct	p.P229S	SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	229					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATAGGATGGCCTTACGTCTT	0.443													False	0	False	6:25771219	0	T	25771219	C	T	25771219	3	4	88	1	0	0	0	0	1	0	0	0	14500	739	26	2	703	2	SLC17A4	6	25771219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1840	25771219	145343848	6859	14571											
SLC17A1	6568	broad.mit.edu	37	chr6	25811866	25811866	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttctggctgttgcttacCtgctgctgtgaagagtttcc	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25811866C>A	ENST00000244527.4	-	9	1145	c.1030G>T	c.(1030-1032)Gga>Tga	p.G344*	SLC17A1_ENST00000468082.1_Splice_Site_p.G290*|SLC17A1_ENST00000476801.1_Splice_Site_p.G344*|SLC17A1_ENST00000427328.1_Splice_Site_p.G290*	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	344					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGTTGCTTACCTGCTGCTGTG	0.468													False	0	True	6:25811866	0	A	25811866	C	A	25811866	5	1	88	1	0	0	0	0	0	0	1	0	14497	695	24	3	389	3	SLC17A1	6	25811866	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40647	25811866	145303201	6860	14572											
SLC17A3	10786	broad.mit.edu	37	chr6	25851014	25851014	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggaggatatgatgtaTtctttttctgaggtgcttat	10	4	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25851014T>G	ENST00000397060.4	-	7	913	c.804A>C	c.(802-804)gaA>gaC	p.E268D	SLC17A3_ENST00000360657.3_Missense_Mutation_p.E190D|SLC17A3_ENST00000361703.6_Missense_Mutation_p.E190D	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	190					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATATGATGTATTCTTTTTCTG	0.408													False	0	False	6:25851014	0	G	25851014	T	G	25851014	3	3	88	1	0	0	0	0	1	0	0	0	14499	1490	52	4	716	4	SLC17A3	6	25851014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39148	25851014	145264053	6861	14573											
SLC17A3	10786	broad.mit.edu	37	chr6	25862211	25862211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaccatagccaacagcaCcaaagatgatgccttggatt	8	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25862211C>T	ENST00000397060.4	-	4	459	c.350G>A	c.(349-351)gGt>gAt	p.G117D	SLC17A3_ENST00000360657.3_Intron|SLC17A3_ENST00000361703.6_Intron	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	0					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GCCAACAGCACCAAAGATGAT	0.448													False	0	False	6:25862211	0	T	25862211	C	T	25862211	3	4	88	1	0	0	0	0	1	0	0	0	14499	507	18	2	1182	2	SLC17A3	6	25862211	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11197	25862211	145252856	6862	14574											
SLC17A3	10786	broad.mit.edu	37	chr6	25862558	25862558	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgggattgagggcttgtgCtgttgaccatggctaccatg	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25862558C>A	ENST00000397060.4	-	3	315	c.206G>T	c.(205-207)aGc>aTc	p.S69I	SLC17A3_ENST00000360657.3_Missense_Mutation_p.S69I|SLC17A3_ENST00000361703.6_Missense_Mutation_p.S69I	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	69					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AGGGCTTGTGCTGTTGACCAT	0.468													False	0	False	6:25862558	0	A	25862558	C	A	25862558	3	1	88	1	0	0	0	0	1	0	0	0	14499	797	28	3	1330	3	SLC17A3	6	25862558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347	25862558	145252509	6863	14575											
SLC17A2	10246	broad.mit.edu	37	chr6	25913550	25913550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaactttatgtcctcagaGgcgggtaagggtcctctctt	11	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25913550G>A	ENST00000377850.3	-	12	1956	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F	SLC17A2_ENST00000360488.3_Silent_p.A428A|SLC17A2_ENST00000265425.3_3'UTR			O00624	NPT3_HUMAN	solute carrier family 17, member 2	0					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGTCCTCAGAGGCGGGTAAGG	0.428													False	0	False	6:25913550	0	A	25913550	G	A	25913550	3	1	88	1	0	0	0	0	1	0	0	0	14498	987	35	2	30	2	SLC17A2	6	25913550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50992	25913550	145201517	6864	14576											
SLC17A2	10246	broad.mit.edu	37	chr6	25915985	25915985	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagatgaaaagagctttcGcacagtgatcaatctgagaa	10	6	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25915985G>A	ENST00000377850.3	-	9	1566	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	SLC17A2_ENST00000360488.3_Nonsense_Mutation_p.R348*|SLC17A2_ENST00000265425.3_Nonsense_Mutation_p.R348*			O00624	NPT3_HUMAN	solute carrier family 17, member 2	348					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AAGAGCTTTCGCACAGTGATC	0.473													False	0	False	6:25915985	0	A	25915985	G	A	25915985	4	1	88	1	0	0	0	0	0	1	0	0	14498	1095	38	1	280	1	SLC17A2	6	25915985	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2435	25915985	145199082	6865	14577											
TRIM38	10475	broad.mit.edu	37	chr6	25972122	25972122	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtacagattcagagacaaaAaatccggtctgactttaaga	9	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25972122A>C	ENST00000357085.3	+	5	1009	c.533A>C	c.(532-534)aAa>aCa	p.K178T	TRIM38_ENST00000349458.3_Missense_Mutation_p.K178T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	178					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CAGAGACAAAAAATCCGGTCT	0.403													False	0	True	6:25972122	0	C	25972122	A	C	25972122	3	2	88	1	0	0	0	0	1	0	0	0	16595	14	1	4	543	4	TRIM38	6	25972122	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56137	25972122	145142945	6866	14578											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017371	26017371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttggcttcgtcaccctaGccttggccgccttgggtttt	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26017371G>T	ENST00000244573.3	-	1	669	c.590C>A	c.(589-591)gCt>gAt	p.A197D		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	197					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CGTCACCCTAGCCTTGGCCGC	0.438													False	0	False	6:26017371	0	T	26017371	G	T	26017371	3	4	88	1	0	0	0	0	1	0	0	0	7169	971	34	3	61	3	HIST1H1A	6	26017371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45249	26017371	145097696	6867	14579											
HIST1H3B	8358	broad.mit.edu	37	chr6	26031956	26031956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgcttagcatggatggcGcaaaggtttgtgtcctcaaa	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26031956G>A	ENST00000244661.2	-	1	332	c.333C>T	c.(331-333)tgC>tgT	p.C111C		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	111					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CATGGATGGCGCAAAGGTTTG	0.517													False	0	False	6:26031956	0	A	26031956	G	A	26031956	2	1	88	1	0	0	0	0	0	0	0	1	7203	1079	38	1		1	HIST1H3B	6	26031956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14585	26031956	145083111	6868	14580											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056411	26056411	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaggctcttgagaccAagtttgatacggctgttgtt	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26056411A>G	ENST00000343677.2	-	1	288	c.246T>C	c.(244-246)ctT>ctC	p.L82L		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	82	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGAGACCAAGTTTGATAC	0.542													False	0	False	6:26056411	0	G	26056411	A	G	26056411	2	3	88	1	0	0	0	0	0	0	0	1	7171	117	5	4		4	HIST1H1C	6	26056411	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24455	26056411	145058656	6869	14581											
HIST1H1T	3010	broad.mit.edu	37	chr6	26108003	26108003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttactaagcttaaaggaacCggaagcaccagtacccctgg	9	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26108003C>T	ENST00000338379.4	-	1	361	c.319G>A	c.(319-321)Ggt>Agt	p.G107S		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	107	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TTAAAGGAACCGGAAGCACCA	0.463													False	0	False	6:26108003	0	T	26108003	C	T	26108003	3	4	88	1	0	0	0	0	1	0	0	0	7174	652	23	1	308	1	HIST1H1T	6	26108003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51592	26108003	145007064	6870	14582											
HIST1H1T	3010	broad.mit.edu	37	chr6	26108109	26108109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacgtcgtagccagcagcGgccaatgccttcttgagcgc	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26108109G>A	ENST00000338379.4	-	1	255	c.213C>T	c.(211-213)gcC>gcT	p.A71A		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	71	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						AGCCAGCAGCGGCCAATGCCT	0.522													False	0	False	6:26108109	0	A	26108109	G	A	26108109	2	1	88	1	0	0	0	0	0	0	0	1	7174	1103	39	1		1	HIST1H1T	6	26108109	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106	26108109	145006958	6871	14583											
HIST1H1E	3008	broad.mit.edu	37	chr6	26157183	26157183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggcgcccaagagcccaGcgaaggccaaagcagttaaa	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26157183G>A	ENST00000304218.3	+	1	625	c.565G>A	c.(565-567)Gcg>Acg	p.A189T		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	189					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAAGAGCCCAGCGAAGGCCAA	0.542													False	0	False	6:26157183	0	A	26157183	G	A	26157183	3	1	88	1	0	0	0	0	1	0	0	0	7173	971	34	2	567	2	HIST1H1E	6	26157183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49074	26157183	144957884	6872	14584											
HIST1H4D	8360	broad.mit.edu	37	chr6	26189278	26189278	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgccacccttacctagaccCtttccgcccttaccgcggcc	7	21	0	1	rs142303259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26189278C>A	ENST00000340756.2	-	1	26	c.27G>T	c.(25-27)aaG>aaT	p.K9N		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	9					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TACCTAGACCCTTTCCGCCCT	0.552													False	0	True	6:26189278	0	A	26189278	C	A	26189278	3	1	88	1	0	0	0	0	1	0	0	0	7215	680	24	3	288	3	HIST1H4D	6	26189278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32095	26189278	144925789	6873	14585											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26200158	26200158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcaccaagtacaccagCtctaagtaattctaacgtct	6	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26200158C>A	ENST00000359985.1	+	1	411	c.372C>A	c.(370-372)agC>agA	p.S124R		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	124					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				AGTACACCAGCTCTAAGTAAT	0.527													False	0	False	6:26200158	0	A	26200158	C	A	26200158	3	1	88	1	0	0	0	0	1	0	0	0	7192	796	28	3	374	3	HIST1H2BF	6	26200158	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10880	26200158	144914909	6874	14586											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216523	26216523	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtatacttggtgacagcctTggtaccttcggacactgcgt	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26216523T>C	ENST00000244601.3	-	1	349	c.349A>G	c.(349-351)Aag>Gag	p.K117E		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	117					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GTGACAGCCTTGGTACCTTCG	0.517													False	0	False	6:26216523	0	C	26216523	T	C	26216523	3	2	88	1	0	0	0	0	1	0	0	0	7193	1821	63	4	35	4	HIST1H2BG	6	26216523	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16365	26216523	144898544	6875	14587											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216590	26216590	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agacgcacggcggtctggatCtccctggaggtaatggtcga	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26216590C>T	ENST00000244601.3	-	1	282	c.282G>A	c.(280-282)gaG>gaA	p.E94E		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	94					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CGGTCTGGATCTCCCTGGAGG	0.562													False	0	False	6:26216590	0	T	26216590	C	T	26216590	2	4	88	1	0	0	0	0	0	0	0	1	7193	912	32	2		2	HIST1H2BG	6	26216590	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	26216590	144898477	6876	14588											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217493	26217493	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgaggagctaaataagctTctaggtcgcgtgaccatcgc	12	10	1	1	rs143862810		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26217493T>G	ENST00000303910.2	+	1	329	c.291T>G	c.(289-291)ctT>ctG	p.L97L		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	97					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TAAATAAGCTTCTAGGTCGCG	0.592													False	0	False	6:26217493	0	G	26217493	T	G	26217493	2	3	88	1	0	0	0	0	0	0	0	1	7179	1770	62	4		4	HIST1H2AE	6	26217493	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	903	26217493	144897574	6877	14589											
HIST1H1D	3007	broad.mit.edu	37	chr6	26234584	26234584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgggcttaggggctttgGccttagctggactcttggca	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26234584G>A	ENST00000244534.5	-	1	632	c.578C>T	c.(577-579)gCc>gTc	p.A193V		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	193					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGGGGCTTTGGCCTTAGCTGG	0.537													False	0	False	6:26234584	0	A	26234584	G	A	26234584	3	1	88	1	0	0	0	0	1	0	0	0	7172	1203	42	2	91	2	HIST1H1D	6	26234584	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17091	26234584	144880483	6878	14590											
HIST1H1D	3007	broad.mit.edu	37	chr6	26234693	26234693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcttctttaccttctTaggagtctttttgatgcttt	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26234693T>C	ENST00000244534.5	-	1	523	c.469A>G	c.(469-471)Aag>Gag	p.K157E		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	157					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTTACCTTCTTAGGAGTCTTT	0.552													False	0	False	6:26234693	0	C	26234693	T	C	26234693	3	2	88	1	0	0	0	0	1	0	0	0	7172	1763	61	4	200	4	HIST1H1D	6	26234693	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	109	26234693	144880374	6879	14591											
HIST1H4G	8369	broad.mit.edu	37	chr6	26247128	26247128	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacttggtaatgccctgaatAttatcgctcagtaccttgcg	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26247128A>T	ENST00000244537.4	-	1	131	c.78T>A	c.(76-78)aaT>aaA	p.N26K		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	26					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGCCCTGAATATTATCGCTCA	0.552													False	0	False	6:26247128	0	T	26247128	A	T	26247128	3	4	88	1	0	0	0	0	1	0	0	0	7218	446	16	5	222	5	HIST1H4G	6	26247128	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12435	26247128	144867939	6880	14592											
HIST1H2BH	8345	broad.mit.edu	37	chr6	26252006	26252006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctactccgtatacgtttAcaaggtgctgaagcaagtcc	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26252006A>G	ENST00000356350.2	+	1	128	c.128A>G	c.(127-129)tAc>tGc	p.Y43C		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	43					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						GTATACGTTTACAAGGTGCTG	0.562													False	0	True	6:26252006	0	G	26252006	A	G	26252006	3	3	88	1	0	0	0	0	1	0	0	0	7194	391	14	4	130	4	HIST1H2BH	6	26252006	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4878	26252006	144863061	6881	14593											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271485	26271485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagccacggtgccgggaCggtagcgatgaggtttcttc	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26271485C>T	ENST00000305910.3	-	1	127	c.128G>A	c.(127-129)cGt>cAt	p.R43H		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	43					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGTGCCGGGACGGTAGCGATG	0.637													False	0	False	6:26271485	0	T	26271485	C	T	26271485	3	4	88	1	0	0	0	0	1	0	0	0	7208	536	19	1	286	1	HIST1H3G	6	26271485	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19479	26271485	144843582	6882	14594											
HIST1H2BI	8346	broad.mit.edu	37	chr6	26273462	26273462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggcgcattataacaagCgctcgaccatcacttccagg	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26273462C>T	ENST00000377733.2	+	1	319	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	87					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						TTATAACAAGCGCTCGACCAT	0.602													False	0	False	6:26273462	0	T	26273462	C	T	26273462	3	4	88	1	0	0	0	0	1	0	0	0	7195	768	27	1	261	1	HIST1H2BI	6	26273462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1977	26273462	144841605	6883	14595											
BTN3A2	11118	broad.mit.edu	37	chr6	26370581	26370581	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatcttcacgtcgaagtgaaGggttatgaggatggagggat	15	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370581G>T	ENST00000356386.2	+	5	653	c.465G>T	c.(463-465)aaG>aaT	p.K155N	BTN3A2_ENST00000396948.1_Missense_Mutation_p.K155N|BTN3A2_ENST00000508906.2_Missense_Mutation_p.K113N|BTN3A2_ENST00000396934.3_Missense_Mutation_p.K132N|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000527422.1_Missense_Mutation_p.K155N|BTN3A2_ENST00000377708.2_Missense_Mutation_p.K155N	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	155						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCGAAGTGAAGGGTTATGAGG	0.512													False	0	True	6:26370581	0	T	26370581	G	T	26370581	3	4	88	1	0	0	0	0	1	0	0	0	1570	991	35	3	475	3	BTN3A2	6	26370581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97119	26370581	144744486	6884	14596											
BTN3A2	11118	broad.mit.edu	37	chr6	26370661	26370661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatacagtggagcaacgCcaagggagagaacatcccag	11	11	0	1	rs147417438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370661C>A	ENST00000356386.2	+	5	733	c.545C>A	c.(544-546)gCc>gAc	p.A182D	BTN3A2_ENST00000396948.1_Missense_Mutation_p.A182D|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A140D|BTN3A2_ENST00000396934.3_Missense_Mutation_p.A159D|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A182D|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A182D	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	182			A -> T (in dbSNP:rs12205731).			integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TGGAGCAACGCCAAGGGAGAG	0.557													False	0	False	6:26370661	0	A	26370661	C	A	26370661	3	1	88	1	0	0	0	0	1	0	0	0	1570	739	26	3	555	3	BTN3A2	6	26370661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	26370661	144744406	6885	14597											
BTN3A2	11118	broad.mit.edu	37	chr6	26370752	26370752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatctgtgatcatgagaggCggctccggggagggtgtatc	17	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370752C>T	ENST00000356386.2	+	5	824	c.636C>T	c.(634-636)ggC>ggT	p.G212G	BTN3A2_ENST00000396948.1_Silent_p.G212G|BTN3A2_ENST00000508906.2_Silent_p.G170G|BTN3A2_ENST00000396934.3_Silent_p.G189G|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000527422.1_Silent_p.G212G|BTN3A2_ENST00000377708.2_Silent_p.G212G	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	212				RG -> KS (in Ref. 3; AAF76140).		integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCATGAGAGGCGGCTCCGGGG	0.557													False	0	False	6:26370752	0	T	26370752	C	T	26370752	2	4	88	1	0	0	0	0	0	0	0	1	1570	755	27	1		1	BTN3A2	6	26370752	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91	26370752	144744315	6886	14598											
BTN3A1	0	broad.mit.edu	37	chr6	26409847	26409847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcttgggggagccggtTacttcctgtggcaacagcag	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26409847T>C	ENST00000289361.6	+	5	1170	c.802T>C	c.(802-804)Tac>Cac	p.Y268H	BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y268H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y216H|BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y268H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	268					lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGAGCCGGTTACTTCCTGTG	0.542													False	0	False	6:26409847	0	C	26409847	T	C	26409847	3	2	88	1	0	0	0	0	1	0	0	0	1569	1754	61	4	816	4	BTN3A1	6	26409847	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39095	26409847	144705220	6887	14599											
BTN3A1	0	broad.mit.edu	37	chr6	26413464	26413464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaggaccagaggagtgtGcagcgtgccaaggagcccca	15	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26413464G>A	ENST00000289361.6	+	10	1454	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V	BTN3A1_ENST00000476549.2_3'UTR|BTN3A1_ENST00000414912.2_Silent_p.V310V	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	362	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGAGGAGTGTGCAGCGTGCCA	0.502													False	0	False	6:26413464	0	A	26413464	G	A	26413464	2	1	88	1	0	0	0	0	0	0	0	1	1569	1306	46	2		2	BTN3A1	6	26413464	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3617	26413464	144701603	6888	14600											
BTN2A1	11120	broad.mit.edu	37	chr6	26459981	26459981	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacacaacatcacagcccagGaaaacggcacctaccgctgt	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26459981G>T	ENST00000429381.1	+	3	567	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	BTN2A1_ENST00000469185.1_Nonsense_Mutation_p.E119*|BTN2A1_ENST00000312541.5_Nonsense_Mutation_p.E119*|BTN2A1_ENST00000541522.1_Nonsense_Mutation_p.E58*			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	119	Ig-like V-type.			E -> G (in Ref. 1; AAC02650/AAC02653).	lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CACAGCCCAGGAAAACGGCAC	0.547													False	0	True	6:26459981	0	T	26459981	G	T	26459981	4	4	88	1	0	0	0	0	0	1	0	0	1567	1175	41	3	361	3	BTN2A1	6	26459981	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46517	26459981	144655086	6889	14601											
BTN1A1	696	broad.mit.edu	37	chr6	26505184	26505184	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccctcacatcagtatgcaAgttcaagagaatggagaaat	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26505184A>C	ENST00000244513.6	+	3	525	c.459A>C	c.(457-459)caA>caC	p.Q153H		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	153	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCAGTATGCAAGTTCAAGAGA	0.498													False	0	False	6:26505184	0	C	26505184	A	C	26505184	3	2	88	1	0	0	0	0	1	0	0	0	1566	69	3	4	469	4	BTN1A1	6	26505184	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45203	26505184	144609883	6890	14602											
BTN1A1	696	broad.mit.edu	37	chr6	26507040	26507040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaagacccagagagaggaGgaatgaattcagctctaaag	12	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26507040G>A	ENST00000244513.6	+	4	905	c.839G>A	c.(838-840)aGg>aAg	p.R280K		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	280						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAGAGAGGAGGAATGAATTC	0.458													False	0	True	6:26507040	0	A	26507040	G	A	26507040	3	1	88	1	0	0	0	0	1	0	0	0	1566	1000	35	2	853	2	BTN1A1	6	26507040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1856	26507040	144608027	6891	14603											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100394	27100394	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcagggtggacctgcttcaGaaccttgtacacatagatgg	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27100394G>T	ENST00000607124.1	-	1	135	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.L46M|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.L46M			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	46					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						ACCTGCTTCAGAACCTTGTAC	0.537													False	0	False	6:27100394	0	T	27100394	G	T	27100394	3	4	88	1	0	0	0	0	1	0	0	0	7196	933	33	3	248	3	HIST1H2BJ	6	27100394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	593354	27100394	144014673	6892	14604											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27115260	27115260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccaggccgtgctgctgcCtaagaagactgagagccacc	11	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27115260C>T	ENST00000377459.1	+	1	400	c.353C>T	c.(352-354)cCt>cTt	p.P118L		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	118					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GTGCTGCTGCCTAAGAAGACT	0.522													False	0	True	6:27115260	0	T	27115260	C	T	27115260	3	4	88	1	0	0	0	0	1	0	0	0	7181	681	24	2	355	2	HIST1H2AH	6	27115260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14866	27115260	143999807	6893	14605											
PRSS16	10279	broad.mit.edu	37	chr6	27218821	27218821	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacggcgtctcctcccttagTtcccccatctcattttcgcg	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27218821T>C	ENST00000230582.3	+	6	607	c.592T>C	c.(592-594)Ttc>Ctc	p.F198L	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	198					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTCCCTTAGTTCCCCCATCT	0.592													False	0	False	6:27218821	0	C	27218821	T	C	27218821	5	2	88	1	0	0	0	0	0	0	1	0	12692	1739	60	4	614	4	PRSS16	6	27218821	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	103561	27218821	143896246	6894	14606											
PRSS16	10279	broad.mit.edu	37	chr6	27219637	27219637	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgcttgcgggcccctgGgccgcgctgaaaaccaggcg	16	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27219637G>T	ENST00000230582.3	+	8	841	c.826G>T	c.(826-828)Ggc>Tgc	p.G276C	PRSS16_ENST00000421826.2_Intron|PRSS16_ENST00000377456.2_3'UTR	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	276					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGGGCCCCTGGGCCGCGCTGA	0.701													False	0	True	6:27219637	0	T	27219637	G	T	27219637	3	4	88	1	0	0	0	0	1	0	0	0	12692	1232	43	3	856	3	PRSS16	6	27219637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	816	27219637	143895430	6895	14607											
PRSS16	10279	broad.mit.edu	37	chr6	27219749	27219749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcgtgcgacagctctgcgGacttctcctcgggggcgggg	17	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27219749G>A	ENST00000230582.3	+	8	953	c.938G>A	c.(937-939)gGa>gAa	p.G313E	PRSS16_ENST00000421826.2_Intron|PRSS16_ENST00000377456.2_3'UTR	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	313					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGCTCTGCGGACTTCTCCTC	0.687													False	0	False	6:27219749	0	A	27219749	G	A	27219749	3	1	88	1	0	0	0	0	1	0	0	0	12692	1174	41	2	968	2	PRSS16	6	27219749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112	27219749	143895318	6896	14608											
PRSS16	10279	broad.mit.edu	37	chr6	27222471	27222471	+	Splice_Site	SNP	G	G	T													tacaggtatctccctacacaGatgtcacctgtgagaatccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222471G>T	ENST00000230582.3	+	10	1165		c.e10-1		PRSS16_ENST00000421826.2_Splice_Site|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)						protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCCCTACACAGATGTCACCTG	0.502													False	0	False	6:27222471	0	T	27222471	G	T	27222471	5	4	88	1	0	0	0	0	0	0	1	0	12692	956	33	3	1188	3	PRSS16	6	27222471	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2722	27222471	143892596	6897	14609	186	2									
PRSS16	10279	broad.mit.edu	37	chr6	27222472	27222472	+	Splice_Site	SNP	A	A	G													acaggtatctccctacacagAtgtcacctgtgagaatccca					rs145885657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222472A>G	ENST00000230582.3	+	10	1166	c.1151A>G	c.(1150-1152)tAt>tGt	p.Y384C	PRSS16_ENST00000421826.2_Splice_Site_p.Y127C|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	384					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCTACACAGATGTCACCTGT	0.498													False	0	False	6:27222472	0	G	27222472	A	G	27222472	5	3	88	1	0	0	0	0	0	0	1	0	12692	347	12	4	1189	4	PRSS16	6	27222472	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1	27222472	143892595	6898	14610	186	2									
PRSS16	10279	broad.mit.edu	37	chr6	27222622	27222622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactacggtggccagacccCtggggctaacaaagtgctgt	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222622C>T	ENST00000230582.3	+	10	1316	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	PRSS16_ENST00000421826.2_Missense_Mutation_p.P177L|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	434					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGCCAGACCCCTGGGGCTAAC	0.557													False	0	True	6:27222622	0	T	27222622	C	T	27222622	3	4	88	1	0	0	0	0	1	0	0	0	12692	681	24	2	1339	2	PRSS16	6	27222622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150	27222622	143892445	6899	14611											
ZNF184	7738	broad.mit.edu	37	chr6	27419126	27419126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtttgttgagagcagagcGatatctgaaggattttccac	11	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27419126G>A	ENST00000211936.6	-	6	2496	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	ZNF184_ENST00000377419.1_Missense_Mutation_p.R738C	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGAGCAGAGCGATATCTGAAG	0.383													False	0	False	6:27419126	0	A	27419126	G	A	27419126	3	1	88	1	0	0	0	0	1	0	0	0	17834	1058	37	1	47	1	ZNF184	6	27419126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196504	27419126	143695941	6900	14612											
ZNF184	7738	broad.mit.edu	37	chr6	27419782	27419782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtatgagttttctgatgcTgattaaggtttgagagataa	12	2	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27419782T>C	ENST00000211936.6	-	6	1840	c.1556A>G	c.(1555-1557)cAg>cGg	p.Q519R	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q519R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTCTGATGCTGATTAAGGTT	0.383													False	0	False	6:27419782	0	C	27419782	T	C	27419782	3	2	88	1	0	0	0	0	1	0	0	0	17834	1580	55	4	703	4	ZNF184	6	27419782	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	656	27419782	143695285	6901	14613											
ZNF184	7738	broad.mit.edu	37	chr6	27420156	27420156	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgaaggcctttccacaTtcattacatttataggtttt	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27420156T>G	ENST00000211936.6	-	6	1466	c.1182A>C	c.(1180-1182)gaA>gaC	p.E394D	ZNF184_ENST00000377419.1_Missense_Mutation_p.E394D	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CCTTTCCACATTCATTACATT	0.378													False	0	True	6:27420156	0	G	27420156	T	G	27420156	3	3	88	1	0	0	0	0	1	0	0	0	17834	1490	52	4	1077	4	ZNF184	6	27420156	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	374	27420156	143694911	6902	14614											
ZNF184	7738	broad.mit.edu	37	chr6	27420622	27420622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtatgtgttctctgatggCgaataagagctgaacaataa	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27420622C>T	ENST00000211936.6	-	6	1000	c.716G>A	c.(715-717)cGc>cAc	p.R239H	ZNF184_ENST00000377419.1_Missense_Mutation_p.R239H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTCTGATGGCGAATAAGAGC	0.353													False	0	False	6:27420622	0	T	27420622	C	T	27420622	3	4	88	1	0	0	0	0	1	0	0	0	17834	768	27	1	1543	1	ZNF184	6	27420622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	466	27420622	143694445	6903	14615											
ZNF184	7738	broad.mit.edu	37	chr6	27425127	27425127	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaatctctctggccagggTccagctgtttccattcttcc	7	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27425127T>C	ENST00000211936.6	-	4	421	c.137A>G	c.(136-138)gAc>gGc	p.D46G	ZNF184_ENST00000377419.1_Missense_Mutation_p.D46G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGGCCAGGGTCCAGCTGTTT	0.413													False	0	True	6:27425127	0	C	27425127	T	C	27425127	3	2	88	1	0	0	0	0	1	0	0	0	17834	1667	58	4	2130	4	ZNF184	6	27425127	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4505	27425127	143689940	6904	14616											
HIST1H1B	3009	broad.mit.edu	37	chr6	27835000	27835000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttaaaggagccagaagcaCcagtgcccttggtctgcacc	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27835000C>T	ENST00000331442.3	-	1	359	c.308G>A	c.(307-309)gGt>gAt	p.G103D		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	103	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCCAGAAGCACCAGTGCCCTT	0.607													False	0	False	6:27835000	0	T	27835000	C	T	27835000	3	4	88	1	0	0	0	0	1	0	0	0	7170	507	18	2	376	2	HIST1H1B	6	27835000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	409873	27835000	143280067	6905	14617											
HIST1H3J	8356	broad.mit.edu	37	chr6	27858327	27858327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagctctggaaacgaaggtCggttttgaaatcctgcgcga	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27858327C>T	ENST00000359303.2	-	1	243	c.244G>A	c.(244-246)Gac>Aac	p.D82N		NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	82					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						AAACGAAGGTCGGTTTTGAAA	0.562													False	0	False	6:27858327	0	T	27858327	C	T	27858327	3	4	88	1	0	0	0	0	1	0	0	0	7211	884	31	1	170	1	HIST1H3J	6	27858327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23327	27858327	143256740	6906	14618											
HIST1H3J	8356	broad.mit.edu	37	chr6	27858533	27858533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttccgcggtgccttgccgCcggtagacttgcgagctgtc	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27858533C>T	ENST00000359303.2	-	1	37	c.38G>A	c.(37-39)gGc>gAc	p.G13D	HIST1H3J_ENST00000479986.1_5'UTR	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	13					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						TGCCTTGCCGCCGGTAGACTT	0.597													False	0	False	6:27858533	0	T	27858533	C	T	27858533	3	4	88	1	0	0	0	0	1	0	0	0	7211	739	26	2	376	2	HIST1H3J	6	27858533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206	27858533	143256534	6907	14619											
OR2B2	81697	broad.mit.edu	37	chr6	27879173	27879173	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttatttcttgattaagaaGactctttgcaaccaaccttt	4	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27879173G>T	ENST00000303324.2	-	1	1001	c.925C>A	c.(925-927)Ctt>Att	p.L309I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TGATTAAGAAGACTCTTTGCA	0.363													False	0	False	6:27879173	0	T	27879173	G	T	27879173	3	4	88	1	0	0	0	0	1	0	0	0	11057	942	33	3	152	3	OR2B2	6	27879173	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20640	27879173	143235894	6908	14620											
OR2B2	81697	broad.mit.edu	37	chr6	27879845	27879845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactttcctggtgttgcataTgtttaccagcatttgtggaa	9	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27879845T>C	ENST00000303324.2	-	1	329	c.253A>G	c.(253-255)Ata>Gta	p.I85V		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GTGTTGCATATGTTTACCAGC	0.453													False	0	False	6:27879845	0	C	27879845	T	C	27879845	3	2	88	1	0	0	0	0	1	0	0	0	11057	1464	51	4	824	4	OR2B2	6	27879845	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	672	27879845	143235222	6909	14621											
OR2B6	26212	broad.mit.edu	37	chr6	27925530	27925530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgccactctgtgaccCctatgtgatagatcactttc	7	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27925530C>T	ENST00000244623.1	+	1	512	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTGTGACCCCTATGTGATA	0.488													False	0	True	6:27925530	0	T	27925530	C	T	27925530	3	4	88	1	0	0	0	0	1	0	0	0	11059	623	22	2	514	2	OR2B6	6	27925530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45685	27925530	143189537	6910	14622											
ZNF165	7718	broad.mit.edu	37	chr6	28053579	28053579	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaggagatttgcaggcCtgggtacatgaacattaccc	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28053579C>A	ENST00000377325.1	+	2	877	c.321C>A	c.(319-321)gcC>gcA	p.A107A		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	107	SCAN box.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTTGCAGGCCTGGGTACATG	0.527													False	0	False	6:28053579	0	A	28053579	C	A	28053579	2	1	88	1	0	0	0	0	0	0	0	1	17823	668	24	3		3	ZNF165	6	28053579	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128049	28053579	143061488	6911	14623											
ZSCAN16	80345	broad.mit.edu	37	chr6	28093345	28093345	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggagggaactctatagaCaacacttcaggaagctctgc	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28093345C>T	ENST00000340487.4	+	2	273	c.124C>T	c.(124-126)Caa>Taa	p.Q42*	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	42	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ACTCTATAGACAACACTTCAG	0.527													False	0	False	6:28093345	0	T	28093345	C	T	28093345	4	4	88	1	0	0	0	0	0	1	0	0	18311	479	17	2	126	2	ZSCAN16	6	28093345	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39766	28093345	143021722	6912	14624											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28213078	28213078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcattacatttataagacAcgggagcctcagtattttcc	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213078A>G	ENST00000377294.2	-	5	1697	c.1454T>C	c.(1453-1455)gTg>gCg	p.V485A	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.V330A	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	485					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTTATAAGACACGGGAGCCTC	0.443													False	0	False	6:28213078	0	G	28213078	A	G	28213078	3	3	88	1	0	0	0	0	1	0	0	0	17772	159	6	4	187	4	ZKSCAN4	6	28213078	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	119733	28213078	142901989	6913	14625											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28213259	28213259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctccccagtatgaaTtttgtgatgttcaaggaggc	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213259T>C	ENST00000377294.2	-	5	1516	c.1273A>G	c.(1273-1275)Att>Gtt	p.I425V	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.I270V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	425					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCAGTATGAATTTTGTGATGT	0.473													False	0	True	6:28213259	0	C	28213259	T	C	28213259	3	2	88	1	0	0	0	0	1	0	0	0	17772	1493	52	4	368	4	ZKSCAN4	6	28213259	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181	28213259	142901808	6914	14626											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28213501	28213501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattcatagggtttctcaCcagtgtggattctcctgtgt	9	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213501C>T	ENST00000377294.2	-	5	1274	c.1031G>A	c.(1030-1032)gGt>gAt	p.G344D	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.G189D	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	344					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGTTTCTCACCAGTGTGGAT	0.458													False	0	False	6:28213501	0	T	28213501	C	T	28213501	3	4	88	1	0	0	0	0	1	0	0	0	17772	507	18	2	610	2	ZKSCAN4	6	28213501	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	242	28213501	142901566	6915	14627											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28219397	28219397	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagcaccaccacctcctccCcgctctctggatgctgctcc	6	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28219397C>A	ENST00000377294.2	-	1	605	c.362G>T	c.(361-363)gGg>gTg	p.G121V	ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	121	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CACCTCCTCCCCGCTCTCTGG	0.597													False	0	True	6:28219397	0	A	28219397	C	A	28219397	3	1	88	1	0	0	0	0	1	0	0	0	17772	623	22	3	1295	3	ZKSCAN4	6	28219397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5896	28219397	142895670	6916	14628											
NKAPL	222698	broad.mit.edu	37	chr6	28227547	28227547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggattggggaattgggagCgcctgaagtgtgggggccgt	21	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28227547C>T	ENST00000343684.3	+	1	450	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	133										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAATTGGGAGCGCCTGAAGTG	0.537													False	0	False	6:28227547	0	T	28227547	C	T	28227547	3	4	88	1	0	0	0	0	1	0	0	0	10508	768	27	1	400	1	NKAPL	6	28227547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8150	28227547	142887520	6917	14629											
NKAPL	222698	broad.mit.edu	37	chr6	28227565	28227565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcctgaagtgtgggggcCgtctccaaagttccctcagc	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28227565C>T	ENST00000343684.3	+	1	468	c.416C>T	c.(415-417)cCg>cTg	p.P139L		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	139										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTGTGGGGGCCGTCTCCAAAG	0.532													False	0	False	6:28227565	0	T	28227565	C	T	28227565	3	4	88	1	0	0	0	0	1	0	0	0	10508	652	23	1	418	1	NKAPL	6	28227565	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	28227565	142887502	6918	14630											
NKAPL	222698	broad.mit.edu	37	chr6	28228254	28228254	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgctgatgagaagagagctCttgcatcctttaaccaagaa	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28228254C>A	ENST00000343684.3	+	1	1157	c.1105C>A	c.(1105-1107)Ctt>Att	p.L369I		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	369										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAAGAGAGCTCTTGCATCCTT	0.443													False	0	False	6:28228254	0	A	28228254	C	A	28228254	3	1	88	1	0	0	0	0	1	0	0	0	10508	913	32	3	1107	3	NKAPL	6	28228254	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	689	28228254	142886813	6919	14631											
PGBD1	84547	broad.mit.edu	37	chr6	28269043	28269043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttttgagtggatttatgaGgcatcctagaagggaaatgt	12	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28269043G>A	ENST00000405948.2	+	7	1832	c.1412G>A	c.(1411-1413)aGg>aAg	p.R471K	PGBD1_ENST00000259883.3_Missense_Mutation_p.R471K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	471					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGATTTATGAGGCATCCTAGA	0.398													False	0	False	6:28269043	0	A	28269043	G	A	28269043	3	1	88	1	0	0	0	0	1	0	0	0	11849	1000	35	2	1434	2	PGBD1	6	28269043	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40789	28269043	142846024	6920	14632											
PGBD1	84547	broad.mit.edu	37	chr6	28269797	28269797	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gataacgaagaaatccctcaGataagtcaaccatccatagt	6	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28269797G>A	ENST00000405948.2	+	7	2586	c.2166G>A	c.(2164-2166)caG>caA	p.Q722Q	PGBD1_ENST00000259883.3_Silent_p.Q722Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	722					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAATCCCTCAGATAAGTCAAC	0.413													False	0	False	6:28269797	0	A	28269797	G	A	28269797	2	1	88	1	0	0	0	0	0	0	0	1	11849	933	33	2		2	PGBD1	6	28269797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	754	28269797	142845270	6921	14633											
ZSCAN12	9753	broad.mit.edu	37	chr6	28358503	28358503	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcacacttgtagggcctctCtccagtgtggattctctgat	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28358503C>T	ENST00000361028.1	-	4	1709	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.E522K					zinc finger and SCAN domain containing 12											breast(2)|endometrium(3)|urinary_tract(1)	6						TAGGGCCTCTCTCCAGTGTGG	0.493													False	0	True	6:28358503	0	T	28358503	C	T	28358503	3	4	88	1	0	0	0	0	1	0	0	0	18310	922	32	2	275	2	ZSCAN12	6	28358503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88706	28358503	142756564	6922	14634											
ZSCAN12	9753	broad.mit.edu	37	chr6	28365827	28365827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctaaatcctccagcacaGtcaccacctcctccccactc	2	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28365827G>A	ENST00000361028.1	-	2	501	c.356C>T	c.(355-357)aCt>aTt	p.T119I	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.T119I					zinc finger and SCAN domain containing 12											breast(2)|endometrium(3)|urinary_tract(1)	6						CTCCAGCACAGTCACCACCTC	0.522													False	0	False	6:28365827	0	A	28365827	G	A	28365827	3	1	88	1	0	0	0	0	1	0	0	0	18310	1029	36	2	1491	2	ZSCAN12	6	28365827	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7324	28365827	142749240	6923	14635											
ZSCAN12	9753	broad.mit.edu	37	chr6	28366005	28366005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggctcaaagcctcacgggGaccagatgtctcctggtagc	12	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28366005G>A	ENST00000361028.1	-	2	323	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.P60S					zinc finger and SCAN domain containing 12											breast(2)|endometrium(3)|urinary_tract(1)	6						GCCTCACGGGGACCAGATGTC	0.542													False	0	True	6:28366005	0	A	28366005	G	A	28366005	3	1	88	1	0	0	0	0	1	0	0	0	18310	1174	41	2	1669	2	ZSCAN12	6	28366005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178	28366005	142749062	6924	14636											
ZSCAN12	9753	broad.mit.edu	37	chr6	28366051	28366051	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtctgaagtactgacggaaGacctctctgctatgggtgtt	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28366051G>T	ENST00000361028.1	-	2	277	c.132C>A	c.(130-132)gtC>gtA	p.V44V	ZSCAN12_ENST00000396827.3_Silent_p.V44V					zinc finger and SCAN domain containing 12											breast(2)|endometrium(3)|urinary_tract(1)	6						ACTGACGGAAGACCTCTCTGC	0.507													False	0	False	6:28366051	0	T	28366051	G	T	28366051	2	4	88	1	0	0	0	0	0	0	0	1	18310	929	33	3		3	ZSCAN12	6	28366051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46	28366051	142749016	6925	14637											
ZSCAN23	222696	broad.mit.edu	37	chr6	28403940	28403940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggttatttcttgacaggCctgattctggcccacaggaa	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28403940C>T	ENST00000289788.4	-	2	249	c.104G>A	c.(103-105)gGc>gAc	p.G35D	ZSCAN23_ENST00000486481.1_Intron	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	35					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						TCTTGACAGGCCTGATTCTGG	0.527													False	0	False	6:28403940	0	T	28403940	C	T	28403940	3	4	88	1	0	0	0	0	1	0	0	0	18317	739	26	2	1077	2	ZSCAN23	6	28403940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37889	28403940	142711127	6926	14638											
GPX6	257202	broad.mit.edu	37	chr6	28472207	28472207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagttccagcggatatcatgGaccttcatgggctcccagaa	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28472207G>A	ENST00000474923.1	-	4	471	c.428C>T	c.(427-429)tCc>tTc	p.S143F	GPX6_ENST00000361902.1_Silent_p.V176V			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	0					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGATATCATGGACCTTCATGG	0.512													False	0	False	6:28472207	0	A	28472207	G	A	28472207	3	1	88	1	0	0	0	0	1	0	0	0	6791	1161	41	2	141	2	GPX6	6	28472207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68267	28472207	142642860	6927	14639											
GPX5	2880	broad.mit.edu	37	chr6	28497272	28497272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccatctatgactatgaGgccatcgcacttaataagaa	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28497272G>T	ENST00000412168.2	+	2	221	c.132G>T	c.(130-132)gaG>gaT	p.E44D	GPX5_ENST00000469384.1_Missense_Mutation_p.E44D|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	44					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ATGACTATGAGGCCATCGCAC	0.433													False	0	False	6:28497272	0	T	28497272	G	T	28497272	3	4	88	1	0	0	0	0	1	0	0	0	6790	991	35	3	138	3	GPX5	6	28497272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25065	28497272	142617795	6928	14640											
GPX5	2880	broad.mit.edu	37	chr6	28501868	28501868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggaatccctgtcatgcGctggtcccaccgggctacgg	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28501868G>A	ENST00000412168.2	+	5	679	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	197					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCTGTCATGCGCTGGTCCCAC	0.512													False	0	False	6:28501868	0	A	28501868	G	A	28501868	3	1	88	1	0	0	0	0	1	0	0	0	6790	1087	38	1	608	1	GPX5	6	28501868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4596	28501868	142613199	6929	14641											
SCAND3	114821	broad.mit.edu	37	chr6	28540422	28540422	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catgggtttcttgccttgcaGaaacactaagagttcatttc	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28540422G>T	ENST00000452236.2	-	4	3861	c.3244C>A	c.(3244-3246)Ctg>Atg	p.L1082M		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1082					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttgccttgcagaaacactaag	0.378													False	0	True	6:28540422	0	T	28540422	G	T	28540422	3	4	88	1	0	0	0	0	1	0	0	0	13956	933	33	3	737	3	SCAND3	6	28540422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38554	28540422	142574645	6930	14642											
SCAND3	114821	broad.mit.edu	37	chr6	28541211	28541211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatatgaagcccgcaaagCactaatgtttatatgagaaa	7	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28541211C>T	ENST00000452236.2	-	4	3072	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	819					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gcccgcaaagcactaatgttt	0.373													False	0	False	6:28541211	0	T	28541211	C	T	28541211	3	4	88	1	0	0	0	0	1	0	0	0	13956	710	25	2	1526	2	SCAND3	6	28541211	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	789	28541211	142573856	6931	14643											
SCAND3	114821	broad.mit.edu	37	chr6	28542469	28542469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtccctgatggctttagCattttggaaggtttaacagg	13	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28542469C>T	ENST00000452236.2	-	3	2630	c.2013G>A	c.(2011-2013)atG>atA	p.M671I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	671					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGGCTTTAGCATTTTGGAAG	0.418													False	0	False	6:28542469	0	T	28542469	C	T	28542469	3	4	88	1	0	0	0	0	1	0	0	0	13956	710	25	2	1972	2	SCAND3	6	28542469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1258	28542469	142572598	6932	14644											
SCAND3	114821	broad.mit.edu	37	chr6	28542676	28542676	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttttcacaaactacacaGgataaaaatcttagtctgct	4	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28542676G>T	ENST00000452236.2	-	3	2423	c.1806C>A	c.(1804-1806)tcC>tcA	p.S602S		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	602					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAACTACACAGGATAAAAATC	0.403													False	0	False	6:28542676	0	T	28542676	G	T	28542676	2	4	88	1	0	0	0	0	0	0	0	1	13956	987	35	3		3	SCAND3	6	28542676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	207	28542676	142572391	6933	14645											
ZNF311	282890	broad.mit.edu	37	chr6	28963774	28963774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgaaggccttcccacaGtccctgcactcgtgaggctt	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28963774G>A	ENST00000377179.3	-	7	1517	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CCTTCCCACAGTCCCTGCACT	0.512													False	0	False	6:28963774	0	A	28963774	G	A	28963774	2	1	88	1	0	0	0	0	0	0	0	1	17917	1020	36	2		2	ZNF311	6	28963774	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421098	28963774	142151293	6934	14646											
ZNF311	282890	broad.mit.edu	37	chr6	28967386	28967386	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctacatcctcaaatgtcactGactcctgaaataatatgctc	4	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28967386G>A	ENST00000377179.3	-	5	700	c.188C>T	c.(187-189)tCa>tTa	p.S63L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						AAATGTCACTGACTCCTGAAA	0.438													False	0	False	6:28967386	0	A	28967386	G	A	28967386	3	1	88	1	0	0	0	0	1	0	0	0	17917	1294	45	2	1824	2	ZNF311	6	28967386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3612	28967386	142147681	6935	14647											
OR2J3	442186	broad.mit.edu	37	chr6	29079703	29079703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcaatgctagctctgaGgggtactttattttagttgg	11	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29079703G>T	ENST00000377169.1	+	1	36	c.36G>T	c.(34-36)gaG>gaT	p.E12D		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTAGCTCTGAGGGGTACTTTA	0.348													False	0	True	6:29079703	0	T	29079703	G	T	29079703	3	4	88	1	0	0	0	0	1	0	0	0	11072	991	35	3	38	3	OR2J3	6	29079703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112317	29079703	142035364	6936	14648											
OR2J3	442186	broad.mit.edu	37	chr6	29079778	29079778	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgtggttgtcttgatcttCtacttgatgacactgatagg	10	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29079778C>A	ENST00000377169.1	+	1	111	c.111C>A	c.(109-111)ttC>ttA	p.F37L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCTTGATCTTCTACTTGATGA	0.403													False	0	False	6:29079778	0	A	29079778	C	A	29079778	3	1	88	1	0	0	0	0	1	0	0	0	11072	912	32	3	113	3	OR2J3	6	29079778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75	29079778	142035289	6937	14649											
OR2J2	26707	broad.mit.edu	37	chr6	29142140	29142140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaagtgtttaggacatgtgGagcccatcttatggttgtat	12	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29142140G>A	ENST00000377167.2	+	1	830	c.728G>A	c.(727-729)gGa>gAa	p.G243E		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AGGACATGTGGAGCCCATCTT	0.463													False	0	False	6:29142140	0	A	29142140	G	A	29142140	3	1	88	1	0	0	0	0	1	0	0	0	11071	1174	41	2	730	2	OR2J2	6	29142140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62362	29142140	141972927	6938	14650											
OR14J1	442191	broad.mit.edu	37	chr6	29275057	29275057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcattaatgagattgcactGgctgcattcacaacgtctgc	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29275057G>A	ENST00000377160.2	+	1	655	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AGATTGCACTGGCTGCATTCA	0.438													False	0	False	6:29275057	0	A	29275057	G	A	29275057	2	1	88	1	0	0	0	0	0	0	0	1	11016	1335	47	2		2	OR14J1	6	29275057	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132917	29275057	141840010	6939	14651											
OR10C1	442194	broad.mit.edu	37	chr6	29408013	29408013	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttggagattggctatacgtCtgtcacggtccccctgctac	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408013C>T	ENST00000444197.2	+	1	931	c.221C>T	c.(220-222)tCt>tTt	p.S74F	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCTATACGTCTGTCACGGTC	0.557													False	0	False	6:29408013	0	T	29408013	C	T	29408013	3	4	88	1	0	0	0	0	1	0	0	0	10966	913	32	2	223	2	OR10C1	6	29408013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132956	29408013	141707054	6940	14652											
OR10C1	442194	broad.mit.edu	37	chr6	29408232	29408232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacagctagctgggtcggCgtgggcctgtggggtgctgg	19	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408232C>T	ENST00000444197.2	+	1	1150	c.440C>T	c.(439-441)gCg>gTg	p.A147V	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTGGGTCGGCGTGGGCCTGT	0.622													False	0	False	6:29408232	0	T	29408232	C	T	29408232	3	4	88	1	0	0	0	0	1	0	0	0	10966	768	27	1	442	1	OR10C1	6	29408232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219	29408232	141706835	6941	14653											
OR10C1	442194	broad.mit.edu	37	chr6	29408493	29408493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatctgttgcgggccgccGcaaggccttctccacctgct	10	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408493G>A	ENST00000444197.2	+	1	1411	c.701G>A	c.(700-702)cGc>cAc	p.R234H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCGGGCCGCCGCAAGGCCTTC	0.592													False	0	False	6:29408493	0	A	29408493	G	A	29408493	3	1	88	1	0	0	0	0	1	0	0	0	10966	1087	38	1	703	1	OR10C1	6	29408493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	261	29408493	141706574	6942	14654											
OR10C1	442194	broad.mit.edu	37	chr6	29408712	29408712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagaaccatccagaaaaCggtgcctatggagatttgaa	10	7	0	4	rs142718527	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408712C>T	ENST00000444197.2	+	1	1630	c.920C>T	c.(919-921)aCg>aTg	p.T307M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T307M(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATCCAGAAAACGGTGCCTATG	0.502													False	0	True	6:29408712	0	T	29408712	C	T	29408712	3	4	88	1	0	0	0	0	1	0	0	0	10966	536	19	1	922	1	OR10C1	6	29408712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219	29408712	141706355	6943	14655											
MAS1L	116511	broad.mit.edu	37	chr6	29454915	29454915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctggtggccttttgctgCtgggagcagcacaggaatct	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29454915C>A	ENST00000377127.3	-	1	823	c.765G>T	c.(763-765)caG>caT	p.Q255H		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	255						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCTTTTGCTGCTGGGAGCAGC	0.522													False	0	False	6:29454915	0	A	29454915	C	A	29454915	3	1	88	1	0	0	0	0	1	0	0	0	9388	796	28	3	373	3	MAS1L	6	29454915	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46203	29454915	141660152	6944	14656											
OR2H2	7932	broad.mit.edu	37	chr6	29556001	29556001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagaccatcagcttcctgGactgctctgtccagatcttc	8	13	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29556001G>A	ENST00000383640.2	+	1	319	c.280G>A	c.(280-282)Gac>Aac	p.D94N	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	94					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CAGCTTCCTGGACTGCTCTGT	0.542													False	0	False	6:29556001	0	A	29556001	G	A	29556001	3	1	88	1	0	0	0	0	1	0	0	0	11070	1174	41	2	282	2	OR2H2	6	29556001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101086	29556001	141559066	6945	14657											
OR2H2	7932	broad.mit.edu	37	chr6	29556596	29556596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcatatacaccctgaggaAcaaggaggtaaccagggcat	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29556596A>G	ENST00000383640.2	+	1	914	c.875A>G	c.(874-876)aAc>aGc	p.N292S	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	292					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						ACCCTGAGGAACAAGGAGGTA	0.498													False	0	False	6:29556596	0	G	29556596	A	G	29556596	3	3	88	1	0	0	0	0	1	0	0	0	11070	43	2	4	877	4	OR2H2	6	29556596	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	595	29556596	141558471	6946	14658											
GABBR1	0	broad.mit.edu	37	chr6	29588918	29588918	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tattggcaggattcagcatgAcaatctcagttgtgatgtgg	12	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29588918A>T	ENST00000377034.4	-	11	1618	c.1283T>A	c.(1282-1284)gTc>gAc	p.V428D	GABBR1_ENST00000355973.3_Missense_Mutation_p.V311D|GABBR1_ENST00000377016.4_Missense_Mutation_p.V366D|GABBR1_ENST00000376977.3_Missense_Mutation_p.V428D|GABBR1_ENST00000377012.4_Missense_Mutation_p.V311D	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	428					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	ATTCAGCATGACAATCTCAGT	0.537													False	0	False	6:29588918	0	T	29588918	A	T	29588918	3	4	88	1	0	0	0	0	1	0	0	0	6197	275	10	5	1654	5	GABBR1	6	29588918	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32322	29588918	141526149	6947	14659											
MOG	4340	broad.mit.edu	37	chr6	29633971	29633971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtgctggttctcctcgCggtgctgcctgtgctcctcc	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29633971C>T	ENST00000376894.4	+	3	597	c.479C>T	c.(478-480)gCg>gTg	p.A160V	MOG_ENST00000483013.1_Missense_Mutation_p.A44V|MOG_ENST00000376898.3_Missense_Mutation_p.A160V|MOG_ENST00000431798.2_Missense_Mutation_p.A160V|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000490427.1_Missense_Mutation_p.A44V|MOG_ENST00000396701.2_Missense_Mutation_p.A160V|MOG_ENST00000396704.3_Missense_Mutation_p.A160V|MOG_ENST00000376888.2_Missense_Mutation_p.A44V|MOG_ENST00000494692.1_Missense_Mutation_p.A160V|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376917.3_Missense_Mutation_p.A160V|MOG_ENST00000376891.4_Missense_Mutation_p.A160V|MOG_ENST00000416766.2_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	160					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.A160V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GTTCTCCTCGCGGTGCTGCCT	0.557													False	0	False	6:29633971	0	T	29633971	C	T	29633971	3	4	88	1	0	0	0	0	1	0	0	0	9760	768	27	1	573	1	MOG	6	29633971	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45053	29633971	141481096	6948	14660											
MOG	4340	broad.mit.edu	37	chr6	29635428	29635428	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttctattttaggaaaacttCgagcagagataggtgagttc	10	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29635428C>T	ENST00000376894.4	+	4	677	c.559C>T	c.(559-561)Cga>Tga	p.R187*	MOG_ENST00000483013.1_Nonsense_Mutation_p.R71*|MOG_ENST00000376898.3_Nonsense_Mutation_p.R187*|MOG_ENST00000431798.2_Nonsense_Mutation_p.R187*|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000490427.1_Nonsense_Mutation_p.R71*|MOG_ENST00000396701.2_Nonsense_Mutation_p.R187*|MOG_ENST00000396704.3_Nonsense_Mutation_p.R187*|MOG_ENST00000376888.2_Nonsense_Mutation_p.R71*|MOG_ENST00000494692.1_Nonsense_Mutation_p.R187*|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376917.3_Nonsense_Mutation_p.R187*|MOG_ENST00000376891.4_Nonsense_Mutation_p.R187*|MOG_ENST00000416766.2_Nonsense_Mutation_p.R149*			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	187					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGGAAAACTTCGAGCAGAGAT	0.507													False	0	False	6:29635428	0	T	29635428	C	T	29635428	4	4	88	1	0	0	0	0	0	1	0	0	9760	876	31	1	657	1	MOG	6	29635428	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1457	29635428	141479639	6949	14661											
ZFP57	346171	broad.mit.edu	37	chr6	29640963	29640963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggacctctggcttctggCgatgggtgtctggaattcag	15	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29640963C>T	ENST00000376883.1	-	6	1276	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	ZFP57_ENST00000488757.1_Missense_Mutation_p.A309T|ZFP57_ENST00000376881.3_Missense_Mutation_p.A289T			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	225					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TGGCTTCTGGCGATGGGTGTC	0.547													False	0	False	6:29640963	0	T	29640963	C	T	29640963	3	4	88	1	0	0	0	0	1	0	0	0	17734	768	27	1	689	1	ZFP57	6	29640963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5535	29640963	141474104	6950	14662											
ZFP57	346171	broad.mit.edu	37	chr6	29641220	29641220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctccccaagatgcatgCgtctgtgatagctgagggac	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29641220C>T	ENST00000376883.1	-	6	1019	c.608G>A	c.(607-609)cGc>cAc	p.R203H	ZFP57_ENST00000488757.1_Missense_Mutation_p.R223H|ZFP57_ENST00000376881.3_Missense_Mutation_p.R203H			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	139					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						AAGATGCATGCGTCTGTGATA	0.537													False	0	True	6:29641220	0	T	29641220	C	T	29641220	3	4	88	1	0	0	0	0	1	0	0	0	17734	768	27	1	946	1	ZFP57	6	29641220	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257	29641220	141473847	6951	14663											
HLA-F	3134	broad.mit.edu	37	chr6	29691495	29691495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggccgcggggagccccGctacatcgccgtggagtacg	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29691495G>A	ENST00000376861.1	+	3	509	c.125G>A	c.(124-126)cGc>cAc	p.R42H	HLA-F_ENST00000259951.7_Missense_Mutation_p.R42H|HLA-F_ENST00000434407.2_Missense_Mutation_p.R42H|HLA-F_ENST00000334668.4_Missense_Mutation_p.R42H|HLA-F_ENST00000440587.2_5'UTR			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	42	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGGGAGCCCCGCTACATCGCC	0.687													False	0	True	6:29691495	0	A	29691495	G	A	29691495	3	1	88	1	0	0	0	0	1	0	0	0	7258	1087	38	1	131	1	HLA-F	6	29691495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50275	29691495	141423572	6952	14664											
HLA-G	3135	broad.mit.edu	37	chr6	29796436	29796436	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcgccctgaacgaggacCtgcgctcctggaccgcagcg	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29796436C>A	ENST00000428701.1	+	4	638	c.460C>A	c.(460-462)Ctg>Atg	p.L154M	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.L159M|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000360323.6_Missense_Mutation_p.L154M	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	154	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAACGAGGACCTGCGCTCCTG	0.622													False	0	False	6:29796436	0	A	29796436	C	A	29796436	3	1	88	1	0	0	0	0	1	0	0	0	7259	680	24	3	470	3	HLA-G	6	29796436	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104941	29796436	141318631	6953	14665											
HLA-A	3105	broad.mit.edu	37	chr6	29911111	29911111	+	Missense_Mutation	SNP	A	A	G													cgggcgcttcctccgcgggtAccggcaggacgcctacgacg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29911111A>G	ENST00000396634.1	+	5	751	c.410A>G	c.(409-411)tAc>tGc	p.Y137C	HLA-A_ENST00000376802.2_Missense_Mutation_p.Y137C|HLA-A_ENST00000376809.5_Missense_Mutation_p.Y137C|HLA-A_ENST00000376806.5_Missense_Mutation_p.Y137C			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	137	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTCCGCGGGTACCGGCAGGAC	0.667									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			False	0	False	6:29911111	0	G	29911111	A	G	29911111	3	3	88	1	0	0	0	0	1	0	0	0	7242	391	14	4	420	4	HLA-A	6	29911111	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	114675	29911111	141203956	6954	14666	187	2									
HLA-A	3105	broad.mit.edu	37	chr6	29911116	29911116	+	Missense_Mutation	SNP	C	C	A													gcttcctccgcgggtaccggCaggacgcctacgacggcaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29911116C>A	ENST00000396634.1	+	5	756	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q139K|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q139K|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q139K			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	139	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGGTACCGGCAGGACGCCTA	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			False	0	False	6:29911116	0	A	29911116	C	A	29911116	3	1	88	1	0	0	0	0	1	0	0	0	7242	711	25	3	425	3	HLA-A	6	29911116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	29911116	141203951	6955	14667	187	2									
PPP1R11	6992	broad.mit.edu	37	chr6	30036959	30036959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaagaagagggctgtgGtcatacacactgtgtacgtg	16	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30036959G>A	ENST00000376772.3	+	3	580	c.257G>A	c.(256-258)gGt>gAt	p.G86D	PPP1R11_ENST00000376758.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376765.2_Missense_Mutation_p.G34D|PPP1R11_ENST00000376763.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376773.1_Missense_Mutation_p.G34D|PPP1R11_ENST00000376769.2_Missense_Mutation_p.G34D	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	86						soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						GAGGGCTGTGGTCATACACAC	0.602													False	0	False	6:30036959	0	A	30036959	G	A	30036959	3	1	88	1	0	0	0	0	1	0	0	0	12427	1261	44	2	267	2	PPP1R11	6	30036959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125843	30036959	141078108	6956	14668											
RNF39	80352	broad.mit.edu	37	chr6	30038975	30038975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcccccagggggccaggCgcctggaaggcgtaaagcag	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30038975C>T	ENST00000244360.6	-	4	1273	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	RNF39_ENST00000376751.3_Silent_p.A326A	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	392	B30.2/SPRY.					cytoplasm	zinc ion binding										GGGGGCCAGGCGCCTGGAAGG	0.687													False	0	False	6:30038975	0	T	30038975	C	T	30038975	2	4	88	1	0	0	0	0	0	0	0	1	13570	755	27	1		1	RNF39	6	30038975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2016	30038975	141076092	6957	14669											
RNF39	80352	broad.mit.edu	37	chr6	30039014	30039014	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcgagtgagcggccgtcGtagaaggccacgcggccccg	17	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30039014G>A	ENST00000244360.6	-	4	1234	c.1137C>T	c.(1135-1137)taC>taT	p.Y379Y	RNF39_ENST00000376751.3_Intron	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	379	B30.2/SPRY.					cytoplasm	zinc ion binding										AGCGGCCGTCGTAGAAGGCCA	0.721													False	0	False	6:30039014	0	A	30039014	G	A	30039014	2	1	88	1	0	0	0	0	0	0	0	1	13570	1140	40	1		1	RNF39	6	30039014	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	30039014	141076053	6958	14670											
RNF39	80352	broad.mit.edu	37	chr6	30041026	30041026	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggatgttgggacttcaaatCtacacagatgaggggaaggg	15	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30041026C>A	ENST00000244360.6	-	3	688		c.e3-1		RNF39_ENST00000376751.3_Splice_Site	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39							cytoplasm	zinc ion binding										GACTTCAAATCTACACAGATG	0.458													False	0	False	6:30041026	0	A	30041026	C	A	30041026	5	1	88	1	0	0	0	0	0	0	1	0	13570	927	32	3	680	3	RNF39	6	30041026	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2012	30041026	141074041	6959	14671											
TRIM40	135644	broad.mit.edu	37	chr6	30114887	30114887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcacatgccagcagaagcGgccagaatccttgacatctc	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30114887G>A	ENST00000396581.1	+	4	953	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TRIM40_ENST00000376724.2_Silent_p.A189A|TRIM40_ENST00000307859.4_Silent_p.A160A			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	189						intracellular	zinc ion binding			ovary(1)	1						CAGCAGAAGCGGCCAGAATCC	0.597													False	0	False	6:30114887	0	A	30114887	G	A	30114887	2	1	88	1	0	0	0	0	0	0	0	1	16598	1103	39	1		1	TRIM40	6	30114887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73861	30114887	141000180	6960	14672											
TRIM26	7726	broad.mit.edu	37	chr6	30166750	30166750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggctccctgagatggggCggacgtctgtggtgcagctg	19	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30166750C>T	ENST00000454678.2	-	4	567	c.131G>A	c.(130-132)cGc>cAc	p.R44H	TRIM26_ENST00000453195.1_Missense_Mutation_p.R44H|TRIM26_ENST00000437089.1_Missense_Mutation_p.R44H|TRIM26_ENST00000487829.1_5'UTR	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	44							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						TGAGATGGGGCGGACGTCTGT	0.602													False	0	True	6:30166750	0	T	30166750	C	T	30166750	3	4	88	1	0	0	0	0	1	0	0	0	16583	768	27	1	1516	1	TRIM26	6	30166750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51863	30166750	140948317	6961	14673											
TRIM39	56658	broad.mit.edu	37	chr6	30297258	30297258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaaagcttgcatcacccGctggtgggaggacctagaga	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30297258G>A	ENST00000376659.5	+	3	762	c.164G>A	c.(163-165)cGc>cAc	p.R55H	TRIM39_ENST00000396551.3_Missense_Mutation_p.R55H|TRIM39_ENST00000376656.4_Missense_Mutation_p.R55H|TRIM39_ENST00000396548.1_Missense_Mutation_p.R55H|TRIM39_ENST00000540416.1_Missense_Mutation_p.R55H|TRIM39_ENST00000396547.1_Missense_Mutation_p.R55H	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						TGCATCACCCGCTGGTGGGAG	0.547													False	0	True	6:30297258	0	A	30297258	G	A	30297258	3	1	88	1	0	0	0	0	1	0	0	0	16596	1087	38	1	166	1	TRIM39	6	30297258	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130508	30297258	140817809	6962	14674											
TRIM39	56658	broad.mit.edu	37	chr6	30309622	30309622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtttcaccttctacccttgCgtcctggctactgagggttt	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30309622C>T	ENST00000376659.5	+	8	1651	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	TRIM39_ENST00000396551.3_Silent_p.C351C|TRIM39-RPP21_ENST00000513556.1_Silent_p.C263C|TRIM39_ENST00000376656.4_Silent_p.C381C|TRIM39_ENST00000396548.1_Silent_p.C351C|TRIM39_ENST00000540416.1_Silent_p.C351C|TRIM39_ENST00000396547.1_Silent_p.C381C	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						TCTACCCTTGCGTCCTGGCTA	0.577													False	0	False	6:30309622	0	T	30309622	C	T	30309622	2	4	88	1	0	0	0	0	0	0	0	1	16596	776	27	1		1	TRIM39	6	30309622	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12364	30309622	140805445	6963	14675											
GNL1	2794	broad.mit.edu	37	chr6	30514929	30514929	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccaggggtgttccgctgaGgggtcctcagcctctgggtg	16	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30514929G>T	ENST00000376621.3	-	10	2371	c.1401C>A	c.(1399-1401)ccC>ccA	p.P467P		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	467					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTTCCGCTGAGGGGTCCTCAG	0.637													False	0	True	6:30514929	0	T	30514929	G	T	30514929	2	4	88	1	0	0	0	0	0	0	0	1	6580	987	35	3		3	GNL1	6	30514929	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205307	30514929	140600138	6964	14676											
GNL1	2794	broad.mit.edu	37	chr6	30520942	30520942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatcctctcccccgcctccGactcttcttcaagactgaga	5	19	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30520942G>A	ENST00000376621.3	-	7	1793	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	275					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CCCCGCCTCCGACTCTTCTTC	0.602													False	0	False	6:30520942	0	A	30520942	G	A	30520942	3	1	88	1	0	0	0	0	1	0	0	0	6580	1057	37	1	1024	1	GNL1	6	30520942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6013	30520942	140594125	6965	14677											
PRR3	80742	broad.mit.edu	37	chr6	30530251	30530251	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccttctaccatccaggCgtcaatggacctcctctgtg	9	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30530251C>T	ENST00000376560.3	+	4	1005	c.546C>T	c.(544-546)ggC>ggT	p.G182G	PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Silent_p.G161G	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	182							nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						ACCATCCAGGCGTCAATGGAC	0.532													False	0	False	6:30530251	0	T	30530251	C	T	30530251	2	4	88	1	0	0	0	0	0	0	0	1	12674	755	27	1		1	PRR3	6	30530251	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9309	30530251	140584816	6966	14678											
ABCF1	23	broad.mit.edu	37	chr6	30546253	30546253	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttcattctctagggtggtAatgtttttgcagccctgatt	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30546253A>T	ENST00000326195.8	+	6	500	c.388A>T	c.(388-390)Aat>Tat	p.N130Y	ABCF1_ENST00000376545.3_Missense_Mutation_p.N130Y|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	130					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTAGGGTGGTAATGTTTTTGC	0.478													False	0	False	6:30546253	0	T	30546253	A	T	30546253	3	4	88	1	0	0	0	0	1	0	0	0	65	362	13	5	410	5	ABCF1	6	30546253	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16002	30546253	140568814	6967	14679											
ABCF1	23	broad.mit.edu	37	chr6	30553100	30553100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaaccacctggacctcaaCgctgtcatctggcttaataa	6	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30553100C>T	ENST00000326195.8	+	15	1567	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	ABCF1_ENST00000376545.3_Silent_p.N447N|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	485	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGGACCTCAACGCTGTCATCT	0.562													False	0	False	6:30553100	0	T	30553100	C	T	30553100	2	4	88	1	0	0	0	0	0	0	0	1	65	535	19	1		1	ABCF1	6	30553100	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6847	30553100	140561967	6968	14680											
DHX16	8449	broad.mit.edu	37	chr6	30628018	30628018	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcatccaccatcaccaCgctggggagggaataggaga	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30628018C>T	ENST00000376442.3	-	10	1741	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Splice_Site_p.V35M	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	516	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						ACCATCACCACGCTGGGGAGG	0.512													False	0	False	6:30628018	0	T	30628018	C	T	30628018	5	4	88	1	0	0	0	0	0	0	1	0	4532	550	19	1	1623	1	DHX16	6	30628018	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74918	30628018	140487049	6969	14681											
DHX16	8449	broad.mit.edu	37	chr6	30630467	30630467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcccatctgtcatgtagCggaggacagttcgctctgat	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30630467C>T	ENST00000376442.3	-	9	1676	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	494	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TGTCATGTAGCGGAGGACAGT	0.547													False	0	False	6:30630467	0	T	30630467	C	T	30630467	3	4	88	1	0	0	0	0	1	0	0	0	4532	768	27	1	1692	1	DHX16	6	30630467	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2449	30630467	140484600	6970	14682											
DHX16	8449	broad.mit.edu	37	chr6	30632720	30632720	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcggcggacggcctggAtggactctttctgctgggcc	17	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30632720A>C	ENST00000376442.3	-	7	1370	c.1175T>G	c.(1174-1176)aTc>aGc	p.I392S		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	392					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GACGGCCTGGATGGACTCTTT	0.567													False	0	True	6:30632720	0	C	30632720	A	C	30632720	3	2	88	1	0	0	0	0	1	0	0	0	4532	333	12	4	2006	4	DHX16	6	30632720	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2253	30632720	140482347	6971	14683											
DHX16	8449	broad.mit.edu	37	chr6	30638717	30638717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactctggcttctctgtctgCtgtttactccccctgcagcc	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30638717C>A	ENST00000376442.3	-	3	654	c.459G>T	c.(457-459)caG>caT	p.Q153H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	153					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						TCTCTGTCTGCTGTTTACTCC	0.562													False	0	True	6:30638717	0	A	30638717	C	A	30638717	3	1	88	1	0	0	0	0	1	0	0	0	4532	796	28	3	2738	3	DHX16	6	30638717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5997	30638717	140476350	6972	14684											
MDC1	9656	broad.mit.edu	37	chr6	30680738	30680738	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgcatcagtgtcgctgtcGatgaagccaaaaggctgagc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30680738G>A	ENST00000376406.3	-	5	1628	c.981C>T	c.(979-981)atC>atT	p.I327I	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.I327I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	327	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGTCGCTGTCGATGAAGCCAA	0.532								Other conserved DNA damage response genes					False	0	False	6:30680738	0	A	30680738	G	A	30680738	2	1	88	1	0	0	0	0	0	0	0	1	9470	1048	37	1		1	MDC1	6	30680738	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42021	30680738	140434329	6973	14685											
FLOT1	10211	broad.mit.edu	37	chr6	30708465	30708465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagttttacctggtcatcGtgaatgtccttcagagtgta	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30708465G>A	ENST00000376389.3	-	6	685	c.465C>T	c.(463-465)caC>caT	p.H155H	FLOT1_ENST00000456573.2_Silent_p.H107H|FLOT1_ENST00000470643.1_5'UTR	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	155						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CCTGGTCATCGTGAATGTCCT	0.478													False	0	False	6:30708465	0	A	30708465	G	A	30708465	2	1	88	1	0	0	0	0	0	0	0	1	5976	1136	40	1		1	FLOT1	6	30708465	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27727	30708465	140406602	6974	14686											
FLOT1	10211	broad.mit.edu	37	chr6	30709395	30709395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgaaagcttcacctggGcaatgccagtgactgagatg	12	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30709395G>A	ENST00000376389.3	-	4	426	c.206C>T	c.(205-207)gCc>gTc	p.A69V	FLOT1_ENST00000456573.2_Missense_Mutation_p.A69V|FLOT1_ENST00000470643.1_Intron	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	69						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CTTCACCTGGGCAATGCCAGT	0.507													False	0	True	6:30709395	0	A	30709395	G	A	30709395	3	1	88	1	0	0	0	0	1	0	0	0	5976	1203	42	2	1117	2	FLOT1	6	30709395	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	930	30709395	140405672	6975	14687											
DDR1	780	broad.mit.edu	37	chr6	30860156	30860156	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcgtggccctgccatggcCtgggagggggagcccatgcg	19	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30860156C>A	ENST00000324771.8	+	10	1484	c.936C>A	c.(934-936)gcC>gcA	p.A312A	DDR1_ENST00000513240.1_Silent_p.A312A|DDR1_ENST00000376575.3_Silent_p.A312A|DDR1_ENST00000452441.1_Silent_p.A312A|DDR1_ENST00000376567.2_Silent_p.A312A|DDR1_ENST00000376568.3_Silent_p.A312A|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Silent_p.A330A|DDR1_ENST00000376570.4_Silent_p.A312A|DDR1_ENST00000454612.2_Silent_p.A312A|DDR1_ENST00000418800.2_Silent_p.A312A|DDR1_ENST00000376569.3_Silent_p.A312A|DDR1_ENST00000361741.4_Silent_p.A43A			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	312					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTGCCATGGCCTGGGAGGGGG	0.687													False	0	False	6:30860156	0	A	30860156	C	A	30860156	2	1	88	1	0	0	0	0	0	0	0	1	4361	668	24	3		3	DDR1	6	30860156	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150761	30860156	140254911	6976	14688											
DDR1	780	broad.mit.edu	37	chr6	30860251	30860251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggcggccgtgtggctcGctttctgcagtgccgcttcc	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30860251G>A	ENST00000324771.8	+	10	1579	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	DDR1_ENST00000513240.1_Missense_Mutation_p.R344H|DDR1_ENST00000376575.3_Missense_Mutation_p.R344H|DDR1_ENST00000452441.1_Missense_Mutation_p.R344H|DDR1_ENST00000376567.2_Missense_Mutation_p.R344H|DDR1_ENST00000376568.3_Missense_Mutation_p.R344H|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.R362H|DDR1_ENST00000376570.4_Missense_Mutation_p.R344H|DDR1_ENST00000454612.2_Missense_Mutation_p.R344H|DDR1_ENST00000418800.2_Missense_Mutation_p.R344H|DDR1_ENST00000376569.3_Missense_Mutation_p.R344H|DDR1_ENST00000361741.4_Missense_Mutation_p.R75H			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	344					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGTGTGGCTCGCTTTCTGCAG	0.647													False	0	False	6:30860251	0	A	30860251	G	A	30860251	3	1	88	1	0	0	0	0	1	0	0	0	4361	1087	38	1	1057	1	DDR1	6	30860251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95	30860251	140254816	6977	14689											
DDR1	780	broad.mit.edu	37	chr6	30865220	30865220	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccaaacatcattcggctgCtgggcgtgtgtgtgcaggac	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30865220C>A	ENST00000324771.8	+	17	2610	c.2062C>A	c.(2062-2064)Ctg>Atg	p.L688M	DDR1_ENST00000513240.1_Missense_Mutation_p.L694M|DDR1_ENST00000376575.3_Missense_Mutation_p.L694M|DDR1_ENST00000452441.1_Missense_Mutation_p.L688M|DDR1_ENST00000376567.2_Missense_Mutation_p.L651M|DDR1_ENST00000376568.3_Missense_Mutation_p.L688M|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.L669M|DDR1_ENST00000376570.4_Missense_Mutation_p.L651M|DDR1_ENST00000454612.2_Missense_Mutation_p.L651M|DDR1_ENST00000418800.2_Missense_Mutation_p.L651M|DDR1_ENST00000376569.3_Missense_Mutation_p.L651M|DDR1_ENST00000361741.4_Missense_Mutation_p.L355M			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	688	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CATTCGGCTGCTGGGCGTGTG	0.537													False	0	False	6:30865220	0	A	30865220	C	A	30865220	3	1	88	1	0	0	0	0	1	0	0	0	4361	796	28	3	2134	3	DDR1	6	30865220	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4969	30865220	140249847	6978	14690											
GTF2H4	2968	broad.mit.edu	37	chr6	30878524	30878524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcccttgacaagtacgccGaggagcgatgggaggtaagc	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30878524G>A	ENST00000259895.4	+	5	680	c.457G>A	c.(457-459)Gag>Aag	p.E153K	GTF2H4_ENST00000376316.2_Missense_Mutation_p.E153K|GTF2H4_ENST00000539324.1_Missense_Mutation_p.E97K	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	153					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAAGTACGCCGAGGAGCGATG	0.592								Nucleotide excision repair (NER)					False	0	False	6:30878524	0	A	30878524	G	A	30878524	3	1	88	1	0	0	0	0	1	0	0	0	6912	1059	37	1	471	1	GTF2H4	6	30878524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13304	30878524	140236543	6979	14691											
VARS2	57176	broad.mit.edu	37	chr6	30888119	30888119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttctccagggtcttcacCggtttgtggcccgggaaaag	12	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30888119C>T	ENST00000321897.5	+	13	1935	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	VARS2_ENST00000416670.2_Missense_Mutation_p.R435W|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Missense_Mutation_p.R465W|VARS2_ENST00000542001.1_Missense_Mutation_p.R295W			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	435					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGGTCTTCACCGGTTTGTGGC	0.542													False	0	False	6:30888119	0	T	30888119	C	T	30888119	3	4	88	1	0	0	0	0	1	0	0	0	17208	643	23	1	1447	1	VARS2	6	30888119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9595	30888119	140226948	6980	14692											
VARS2	57176	broad.mit.edu	37	chr6	30890674	30890674	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcttcttcctctggttgcaGaaaaaggactttcctcacgg	8	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30890674G>T	ENST00000321897.5	+	22	2738		c.e22-1		VARS2_ENST00000416670.2_Splice_Site|VARS2_ENST00000476162.1_Splice_Site|VARS2_ENST00000541562.1_Splice_Site|VARS2_ENST00000542001.1_Splice_Site			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial						valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTGGTTGCAGAAAAAGGACT	0.582													False	0	True	6:30890674	0	T	30890674	G	T	30890674	5	4	88	1	0	0	0	0	0	0	1	0	17208	956	33	3	2286	3	VARS2	6	30890674	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2555	30890674	140224393	6981	14693											
DPCR1	135656	broad.mit.edu	37	chr6	30919785	30919785	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaccacagagaaaaccacaAgaaccccagaaaagcctacg	6	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30919785A>C	ENST00000462446.1	+	2	3572	c.3544A>C	c.(3544-3546)Aga>Cga	p.R1182R	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Silent_p.R24R			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	313						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAAAACCACAAGAACCCCAGA	0.468													False	0	False	6:30919785	0	C	30919785	A	C	30919785	2	2	88	1	0	0	0	0	0	0	0	1	4742	64	3	4		4	DPCR1	6	30919785	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29111	30919785	140195282	6982	14694											
MUC21	394263	broad.mit.edu	37	chr6	30954944	30954944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggggccagcacagccaCcaactctgagtccagcacga	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30954944C>T	ENST00000376296.3	+	2	1233	c.992C>T	c.(991-993)aCc>aTc	p.T331I	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	331	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGCACAGCCACCAACTCTGAG	0.617													False	0	False	6:30954944	0	T	30954944	C	T	30954944	3	4	88	1	0	0	0	0	1	0	0	0	10044	507	18	2	998	2	MUC21	6	30954944	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35159	30954944	140160123	6983	14695											
C6orf15	29113	broad.mit.edu	37	chr6	31079554	31079554	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgagagaccagggaggGcgttgggaaaggatttttcc	17	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31079554G>A	ENST00000259870.3	-	2	585	c.582C>T	c.(580-582)cgC>cgT	p.R194R		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	194										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ACCAGGGAGGGCGTTGGGAAA	0.617													False	0	True	6:31079554	0	A	31079554	G	A	31079554	2	1	88	1	0	0	0	0	0	0	0	1	2353	1190	42	2		2	C6orf15	6	31079554	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124610	31079554	140035513	6984	14696											
C6orf15	29113	broad.mit.edu	37	chr6	31079823	31079823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaggaatccatggcagGcagcccccacgatggaggcc	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31079823G>A	ENST00000259870.3	-	2	316	c.313C>T	c.(313-315)Cct>Tct	p.P105S		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	105										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCCATGGCAGGCAGCCCCCAC	0.622													False	0	True	6:31079823	0	A	31079823	G	A	31079823	3	1	88	1	0	0	0	0	1	0	0	0	2353	1203	42	2	668	2	C6orf15	6	31079823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269	31079823	140035244	6985	14697											
C6orf15	29113	broad.mit.edu	37	chr6	31080049	31080049	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actttctcctccacaacaccGatgctccgggcaaagaggcc	8	16	1	1	rs145694102		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31080049G>A	ENST00000259870.3	-	2	90	c.87C>T	c.(85-87)atC>atT	p.I29I		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	29										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCACAACACCGATGCTCCGGG	0.557													False	0	False	6:31080049	0	A	31080049	G	A	31080049	2	1	88	1	0	0	0	0	0	0	0	1	2353	1048	37	1		1	C6orf15	6	31080049	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226	31080049	140035018	6986	14698											
CDSN	1041	broad.mit.edu	37	chr6	31083901	31083901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaggatatcccggatggaGcggcaggggatctttccagc	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31083901G>A	ENST00000376288.2	-	2	1517	c.1491C>T	c.(1489-1491)cgC>cgT	p.R497R	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	497					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCCGGATGGAGCGGCAGGGGA	0.602													False	0	False	6:31083901	0	A	31083901	G	A	31083901	2	1	88	1	0	0	0	0	0	0	0	1	3202	958	34	2		2	CDSN	6	31083901	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3852	31083901	140031166	6987	14699											
CDSN	1041	broad.mit.edu	37	chr6	31084043	31084043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagaagagctggacttgCtgccacaaggctgaaggatg	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084043C>T	ENST00000376288.2	-	2	1375	c.1349G>A	c.(1348-1350)aGc>aAc	p.S450N	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	450	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GCTGGACTTGCTGCCACAAGG	0.612													False	0	False	6:31084043	0	T	31084043	C	T	31084043	3	4	88	1	0	0	0	0	1	0	0	0	3202	797	28	2	244	2	CDSN	6	31084043	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142	31084043	140031024	6988	14700											
CDSN	1041	broad.mit.edu	37	chr6	31084129	31084129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctggtggggagcagggGctctgggaagcactgccgca	19	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084129G>A	ENST00000376288.2	-	2	1289	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	421	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GGGAGCAGGGGCTCTGGGAAG	0.597													False	0	True	6:31084129	0	A	31084129	G	A	31084129	2	1	88	1	0	0	0	0	0	0	0	1	3202	1194	42	2		2	CDSN	6	31084129	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86	31084129	140030938	6989	14701											
CDSN	1041	broad.mit.edu	37	chr6	31084238	31084238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagggtcccttggagcccGtggagccgcctccacagagc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084238G>A	ENST00000376288.2	-	2	1180	c.1154C>T	c.(1153-1155)aCg>aTg	p.T385M	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	385	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CTTGGAGCCCGTGGAGCCGCC	0.632													False	0	True	6:31084238	0	A	31084238	G	A	31084238	3	1	88	1	0	0	0	0	1	0	0	0	3202	1145	40	1	439	1	CDSN	6	31084238	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109	31084238	140030829	6990	14702											
CCHCR1	54535	broad.mit.edu	37	chr6	31117930	31117930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaacaccttctcccgccaGcggttcagcagggactggca	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31117930G>A	ENST00000396268.3	-	8	1463	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	CCHCR1_ENST00000376266.5_Silent_p.R336R|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Silent_p.R336R|CCHCR1_ENST00000451521.2_Silent_p.R389R	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	336					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TCTCCCGCCAGCGGTTCAGCA	0.562													False	0	False	6:31117930	0	A	31117930	G	A	31117930	2	1	88	1	0	0	0	0	0	0	0	1	2898	958	34	2		2	CCHCR1	6	31117930	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33692	31117930	139997137	6991	14703											
CCHCR1	54535	broad.mit.edu	37	chr6	31118509	31118509	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaccctcacctgcatgGtttccagaagcttctgtcgc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31118509G>T	ENST00000396268.3	-	6	1282	c.1094C>A	c.(1093-1095)aCc>aAc	p.T365N	CCHCR1_ENST00000376266.5_Missense_Mutation_p.T276N|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Missense_Mutation_p.T276N|CCHCR1_ENST00000451521.2_Missense_Mutation_p.T329N	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	276					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CACCTGCATGGTTTCCAGAAG	0.542													False	0	True	6:31118509	0	T	31118509	G	T	31118509	3	4	88	1	0	0	0	0	1	0	0	0	2898	1261	44	3	1573	3	CCHCR1	6	31118509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	579	31118509	139996558	6992	14704											
TCF19	6941	broad.mit.edu	37	chr6	31130430	31130430	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcctgtgttggctgcaGcatccaggctgccagggagg	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31130430G>T	ENST00000376257.3	+	4	1728	c.974G>T	c.(973-975)aGc>aTc	p.S325I	TCF19_ENST00000376255.4_Missense_Mutation_p.S325I|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	325					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GTTGGCTGCAGCATCCAGGCT	0.627													False	0	False	6:31130430	0	T	31130430	G	T	31130430	3	4	88	1	0	0	0	0	1	0	0	0	15771	971	34	3	984	3	TCF19	6	31130430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11921	31130430	139984637	6993	14705											
LTB	4050	broad.mit.edu	37	chr6	31548600	31548600	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggagctgcaccaggccgccGaaccccacgctcgtgtacca	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31548600G>A	ENST00000429299.2	-	4	628	c.621C>T	c.(619-621)ttC>ttT	p.F207F	LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	207					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	CCAGGCCGCCGAACCCCACGC	0.662													False	0	False	6:31548600	0	A	31548600	G	A	31548600	2	1	88	1	0	0	0	0	0	0	0	1	9132	1049	37	1		1	LTB	6	31548600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	418170	31548600	139566467	6994	14706											
LST1	7940	broad.mit.edu	37	chr6	31555449	31555449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgggggcctggggctgggCgggctcctgcttctggcagt	19	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31555449C>T	ENST00000376102.3	+	2	151	c.35C>T	c.(34-36)gCg>gTg	p.A12V	LST1_ENST00000339530.4_Silent_p.G17G|LST1_ENST00000376099.1_Intron|LST1_ENST00000376110.3_Intron|LST1_ENST00000376111.4_5'UTR|LST1_ENST00000376096.1_Intron|LST1_ENST00000211921.7_Intron|LST1_ENST00000376090.2_Intron|LST1_ENST00000303757.8_Silent_p.G17G|LST1_ENST00000376100.3_Intron|LST1_ENST00000376086.3_Intron|LST1_ENST00000376092.3_Intron|LST1_ENST00000438075.2_Silent_p.G17G|LST1_ENST00000376089.2_Intron|LST1_ENST00000418507.2_Intron|LST1_ENST00000376093.2_Silent_p.G17G|LST1_ENST00000419073.1_3'UTR|LST1_ENST00000396101.3_Silent_p.G17G			O00453	LST1_HUMAN	leukocyte specific transcript 1	0					cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding			large_intestine(1)	1						TGGGGCTGGGCGGGCTCCTGC	0.622													False	0	True	6:31555449	0	T	31555449	C	T	31555449	3	4	88	1	0	0	0	0	1	0	0	0	9129	755	27	1	57	1	LST1	6	31555449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6849	31555449	139559618	6995	14707											
C6orf47	57827	broad.mit.edu	37	chr6	31626860	31626860	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcacagcccctttcccgggtCtcccctctgctcctcacctt	5	21	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31626860C>T	ENST00000375911.1	-	1	1689	c.865G>A	c.(865-867)Gac>Aac	p.D289N	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	289										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TTTCCCGGGTCTCCCCTCTGC	0.602													False	0	False	6:31626860	0	T	31626860	C	T	31626860	3	4	88	1	0	0	0	0	1	0	0	0	2381	913	32	2	23	2	C6orf47	6	31626860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71411	31626860	139488207	6996	14708											
VARS	7407	broad.mit.edu	37	chr6	31749480	31749480	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacacacctggttgggccaGcccaaaatggataaggggaa	13	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31749480G>T	ENST00000375663.3	-	20	2846	c.2406C>A	c.(2404-2406)ggC>ggA	p.G802G	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	802					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGTTGGGCCAGCCCAAAATGG	0.607													False	0	True	6:31749480	0	T	31749480	G	T	31749480	2	4	88	1	0	0	0	0	0	0	0	1	17207	958	34	3		3	VARS	6	31749480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122620	31749480	139365587	6997	14709											
VARS	7407	broad.mit.edu	37	chr6	31749699	31749699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggcctccgcctcattgcGtccactcacccagtaccgcc	8	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31749699G>A	ENST00000375663.3	-	19	2712	c.2272C>T	c.(2272-2274)Cgc>Tgc	p.R758C	VARS_ENST00000444930.2_3'UTR|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	758					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCTCATTGCGTCCACTCACC	0.637													False	0	False	6:31749699	0	A	31749699	G	A	31749699	3	1	88	1	0	0	0	0	1	0	0	0	17207	1145	40	1	1570	1	VARS	6	31749699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219	31749699	139365368	6998	14710											
HSPA1A	3303	broad.mit.edu	37	chr6	31785396	31785396	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtcccgggcctgggggCttcggggctcagggtcccaa	19	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31785396C>T	ENST00000375651.5	+	1	2106	c.1863C>T	c.(1861-1863)ggC>ggT	p.G621G	HSPA1A_ENST00000458062.2_Silent_p.G530G|HSPA1A_ENST00000608703.1_Silent_p.G456G	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	621					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						GGCCTGGGGGCTTCGGGGCTC	0.587													False	0	True	6:31785396	0	T	31785396	C	T	31785396	2	4	88	1	0	0	0	0	0	0	0	1	7457	784	28	2		2	HSPA1A	6	31785396	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35697	31785396	139329671	6999	14711											
SLC44A4	80736	broad.mit.edu	37	chr6	31832662	31832662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagccccgggatgcgaccGgagaaaaaaaagaaggacag	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31832662G>A	ENST00000544672.1	-	19	1925	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S	SLC44A4_ENST00000375562.4_Silent_p.S577S|SLC44A4_ENST00000229729.6_Silent_p.S619S	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	619						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGATGCGACCGGAGAAAAAAA	0.572													False	0	False	6:31832662	0	A	31832662	G	A	31832662	2	1	88	1	0	0	0	0	0	0	0	1	14718	1103	39	1		1	SLC44A4	6	31832662	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47266	31832662	139282405	7000	14712											
EHMT2	10919	broad.mit.edu	37	chr6	31852264	31852264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccacacgtcggagcgctcGggagtcaggtcccatgctgt	13	13	1	0	rs147102570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31852264G>A	ENST00000395728.3	-	20	2846	c.2847C>T	c.(2845-2847)ccC>ccT	p.P949P	EHMT2_ENST00000375537.4_Silent_p.P892P|EHMT2_ENST00000375530.4_Silent_p.P858P|EHMT2_ENST00000375528.4_Silent_p.P915P|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	892					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CGGAGCGCTCGGGAGTCAGGT	0.597													False	0	True	6:31852264	0	A	31852264	G	A	31852264	2	1	88	1	0	0	0	0	0	0	0	1	5014	1103	39	1		1	EHMT2	6	31852264	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19602	31852264	139262803	7001	14713											
EHMT2	10919	broad.mit.edu	37	chr6	31852732	31852732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccccgcgtcagtagcatgCggatcacctcgatgtgcttg	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31852732C>T	ENST00000395728.3	-	18	2575	c.2576G>A	c.(2575-2577)cGc>cAc	p.R859H	EHMT2_ENST00000375537.4_Missense_Mutation_p.R802H|EHMT2_ENST00000375530.4_Missense_Mutation_p.R768H|EHMT2_ENST00000375528.4_Missense_Mutation_p.R825H|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	802					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGTAGCATGCGGATCACCTC	0.657													False	0	False	6:31852732	0	T	31852732	C	T	31852732	3	4	88	1	0	0	0	0	1	0	0	0	5014	768	27	1	1267	1	EHMT2	6	31852732	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	468	31852732	139262335	7002	14714											
EHMT2	10919	broad.mit.edu	37	chr6	31860299	31860299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggtcccctttcgtcaggGtcacttctcctgaacgccgg	12	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31860299G>A	ENST00000395728.3	-	6	919	c.920C>T	c.(919-921)aCc>aTc	p.T307I	EHMT2_ENST00000375537.4_Missense_Mutation_p.T250I|EHMT2_ENST00000375530.4_Missense_Mutation_p.T250I|EHMT2_ENST00000375528.4_Missense_Mutation_p.T307I|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	250	Poly-Glu.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TTTCGTCAGGGTCACTTCTCC	0.542													False	0	True	6:31860299	0	A	31860299	G	A	31860299	3	1	88	1	0	0	0	0	1	0	0	0	5014	1261	44	2	2971	2	EHMT2	6	31860299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7567	31860299	139254768	7003	14715											
CFB	629	broad.mit.edu	37	chr6	31895572	31895572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgcctgctgttcctgtacCcaggtaggaggcagggaagg	15	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31895572C>A	ENST00000456570.1	+	1	98	c.43C>A	c.(43-45)Cca>Aca	p.P15T	CFB_ENST00000477310.1_Missense_Mutation_p.P15T|C2_ENST00000299367.5_Missense_Mutation_p.P15T|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.P15T|C2_ENST00000442278.2_Missense_Mutation_p.P15T|CFB_ENST00000556679.1_Missense_Mutation_p.P15T			P00751	CFAB_HUMAN	complement factor B	0					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GTTCCTGTACCCAGGTAGGAG	0.567													False	0	True	6:31895572	0	A	31895572	C	A	31895572	3	1	88	1	0	0	0	0	1	0	0	0	3301	623	22	3		3	CFB	6	31895572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35273	31895572	139219495	7004	14716											
CFB	629	broad.mit.edu	37	chr6	31905129	31905129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgggactaacacctatgCggccttaaacagtgtctatc	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31905129C>T	ENST00000456570.1	+	5	618	c.563C>T	c.(562-564)gCg>gTg	p.A188V	CFB_ENST00000477310.1_Missense_Mutation_p.A159V|C2_ENST00000299367.5_Missense_Mutation_p.A341V|C2_ENST00000452323.2_Missense_Mutation_p.A127V|C2_ENST00000469372.1_Missense_Mutation_p.A95V|C2_ENST00000442278.2_Missense_Mutation_p.A209V|CFB_ENST00000556679.1_Missense_Mutation_p.A188V			P00751	CFAB_HUMAN	complement factor B	357	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AACACCTATGCGGCCTTAAAC	0.478													False	0	False	6:31905129	0	T	31905129	C	T	31905129	3	4	88	1	0	0	0	0	1	0	0	0	3301	768	27	1		1	CFB	6	31905129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9557	31905129	139209938	7005	14717											
CFB	629	broad.mit.edu	37	chr6	31914967	31914967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacagcgatctgtgacaacgGaggtgagaagcatcccctcc	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31914967G>A	ENST00000456570.1	+	15	2043	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E	CFB_ENST00000477310.1_Missense_Mutation_p.G512E|CFB_ENST00000425368.2_Missense_Mutation_p.G161E|CFB_ENST00000556679.1_Missense_Mutation_p.G663E			P00751	CFAB_HUMAN	complement factor B	161	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGTGACAACGGAGGTGAGAAG	0.597													False	0	False	6:31914967	0	A	31914967	G	A	31914967	3	1	88	1	0	0	0	0	1	0	0	0	3301	1174	41	2	492	2	CFB	6	31914967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9838	31914967	139200100	7006	14718											
SKIV2L	6499	broad.mit.edu	37	chr6	31930244	31930244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacttcgcccatcaaggccCtgagcaaccagaagttccgg	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31930244C>A	ENST00000375394.2	+	11	1206	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	SKIV2L_ENST00000544581.1_Missense_Mutation_p.L172M	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	365	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CATCAAGGCCCTGAGCAACCA	0.592													False	0	True	6:31930244	0	A	31930244	C	A	31930244	3	1	88	1	0	0	0	0	1	0	0	0	14440	680	24	3	1135	3	SKIV2L	6	31930244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15277	31930244	139184823	7007	14719											
SKIV2L	6499	broad.mit.edu	37	chr6	31930327	31930327	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtacagctgcatccggaGgcctcctgcctcatcatgac	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31930327G>T	ENST00000375394.2	+	11	1289	c.1176G>T	c.(1174-1176)gaG>gaT	p.E392D	SKIV2L_ENST00000544581.1_Missense_Mutation_p.E199D	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	392	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGCATCCGGAGGCCTCCTGCC	0.572													False	0	False	6:31930327	0	T	31930327	G	T	31930327	3	4	88	1	0	0	0	0	1	0	0	0	14440	991	35	3	1218	3	SKIV2L	6	31930327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	31930327	139184740	7008	14720											
SKIV2L	6499	broad.mit.edu	37	chr6	31933776	31933776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgagatggcagacctgCaccgcatgatgatggtgagc	14	11	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31933776C>T	ENST00000375394.2	+	18	2301	c.2188C>T	c.(2188-2190)Cac>Tac	p.H730Y	SKIV2L_ENST00000544581.1_Missense_Mutation_p.H537Y	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	730	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGCAGACCTGCACCGCATGAT	0.622													False	0	False	6:31933776	0	T	31933776	C	T	31933776	3	4	88	1	0	0	0	0	1	0	0	0	14440	710	25	2	2258	2	SKIV2L	6	31933776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3449	31933776	139181291	7009	14721											
SKIV2L	6499	broad.mit.edu	37	chr6	31936211	31936211	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcgaccctgtcaatgacctgCagctcaaagatatgtcagtt	8	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31936211C>G	ENST00000375394.2	+	24	3078	c.2965C>G	c.(2965-2967)Cag>Gag	p.Q989E	SKIV2L_ENST00000544581.1_Missense_Mutation_p.Q796E	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	989						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CAATGACCTGCAGCTCAAAGA	0.632													False	0	False	6:31936211	0	G	31936211	C	G	31936211	3	3	88	1	0	0	0	0	1	0	0	0	14440	711	25	5	3059	5	SKIV2L	6	31936211	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2435	31936211	139178856	7010	14722											
C4A	720	broad.mit.edu	37	chr6	31963881	31963881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccagtgttagacaggaGcatgcaggtgcgggcatgct	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31963881G>A	ENST00000428956.2	+	26	3464	c.3380G>A	c.(3379-3381)aGc>aAc	p.S1127N	C4A_ENST00000498271.1_Missense_Mutation_p.S1127N	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		TTAGACAGGAGCATGCAGGTG	0.602													False	0	False	6:31963881	0	A	31963881	G	A	31963881	3	1	88	1	0	0	0	0	1	0	0	0	2264	971	34	2		2	C4A	6	31963881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27670	31963881	139151186	7011	14723											
TNXB	7148	broad.mit.edu	37	chr6	32016159	32016159	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggtcctggcctccacaggGactgggccgtggcgtttccc	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32016159G>A	ENST00000375244.3	-	29	10227	c.10026C>T	c.(10024-10026)gtC>gtT	p.V3342V	TNXB_ENST00000375247.2_Silent_p.V3340V			P22105	TENX_HUMAN	tenascin XB	3387	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTCCACAGGGACTGGGCCGT	0.667													False	0	True	6:32016159	0	A	32016159	G	A	32016159	2	1	88	1	0	0	0	0	0	0	0	1	16428	1161	41	2		2	TNXB	6	32016159	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52278	32016159	139098908	7012	14724											
TNXB	7148	broad.mit.edu	37	chr6	32016203	32016203	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtccaaagagcaggaActtgtacttgcgggccgggt	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32016203A>G	ENST00000375244.3	-	29	10183	c.9982T>C	c.(9982-9984)Ttc>Ctc	p.F3328L	TNXB_ENST00000375247.2_Missense_Mutation_p.F3326L			P22105	TENX_HUMAN	tenascin XB	3373	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AAGAGCAGGAACTTGTACTTG	0.687													False	0	False	6:32016203	0	G	32016203	A	G	32016203	3	3	88	1	0	0	0	0	1	0	0	0	16428	43	2	4	4801	4	TNXB	6	32016203	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44	32016203	139098864	7013	14725											
TNXB	7148	broad.mit.edu	37	chr6	32029210	32029210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaccgggcccacgcgccGcccctcgtggaggccataca	13	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32029210G>A	ENST00000375244.3	-	21	7657	c.7456C>T	c.(7456-7458)Cgg>Tgg	p.R2486W	TNXB_ENST00000375247.2_Missense_Mutation_p.R2486W			P22105	TENX_HUMAN	tenascin XB	2546	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCACGCGCCGCCCCTCGTGG	0.647													False	0	True	6:32029210	0	A	32029210	G	A	32029210	3	1	88	1	0	0	0	0	1	0	0	0	16428	1086	38	1	7353	1	TNXB	6	32029210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13007	32029210	139085857	7014	14726											
TNXB	7148	broad.mit.edu	37	chr6	32036330	32036330	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatctccattcctgtactgGaccaggaagtggtcaaactg	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32036330G>A	ENST00000375244.3	-	17	6258	c.6057C>T	c.(6055-6057)gtC>gtT	p.V2019V	TNXB_ENST00000375247.2_Silent_p.V2019V			P22105	TENX_HUMAN	tenascin XB	2101	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCTGTACTGGACCAGGAAGT	0.607													False	0	False	6:32036330	0	A	32036330	G	A	32036330	2	1	88	1	0	0	0	0	0	0	0	1	16428	1161	41	2		2	TNXB	6	32036330	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7120	32036330	139078737	7015	14727											
TNXB	7148	broad.mit.edu	37	chr6	32052335	32052335	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccacctggggctgcccGtccctgtctttgtactggat	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32052335G>A	ENST00000375244.3	-	8	3501	c.3300C>T	c.(3298-3300)gaC>gaT	p.D1100D	TNXB_ENST00000375247.2_Silent_p.D1100D			P22105	TENX_HUMAN	tenascin XB	1187	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCTGCCCGTCCCTGTCTT	0.617													False	0	True	6:32052335	0	A	32052335	G	A	32052335	2	1	88	1	0	0	0	0	0	0	0	1	16428	1136	40	1		1	TNXB	6	32052335	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16005	32052335	139062732	7016	14728											
TNXB	7148	broad.mit.edu	37	chr6	32063627	32063627	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccatagcccacgtggcacAggcacactccttgcacacac	8	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32063627A>G	ENST00000375244.3	-	3	2204	c.2003T>C	c.(2002-2004)cTg>cCg	p.L668P	TNXB_ENST00000375247.2_Missense_Mutation_p.L668P|TNXB_ENST00000479795.1_Missense_Mutation_p.L668P			P22105	TENX_HUMAN	tenascin XB	668	EGF-like 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGTGGCACAGGCACACTCC	0.721													False	0	True	6:32063627	0	G	32063627	A	G	32063627	3	3	88	1	0	0	0	0	1	0	0	0	16428	188	7	4	12878	4	TNXB	6	32063627	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11292	32063627	139051440	7017	14729											
TNXB	7148	broad.mit.edu	37	chr6	32064837	32064837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtagcctgggtcacacaCgcagcgcccaccctcacagc	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32064837C>T	ENST00000375244.3	-	3	994	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	TNXB_ENST00000375247.2_Missense_Mutation_p.V265M|TNXB_ENST00000479795.1_Missense_Mutation_p.V265M			P22105	TENX_HUMAN	tenascin XB	265	EGF-like 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTCACACACGCAGCGCCCA	0.667													False	0	True	6:32064837	0	T	32064837	C	T	32064837	3	4	88	1	0	0	0	0	1	0	0	0	16428	536	19	1	14088	1	TNXB	6	32064837	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1210	32064837	139050230	7018	14730											
ATF6B	1388	broad.mit.edu	37	chr6	32095235	32095235	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttacctgggaagatcggcagGagttcccatgggggctcaga	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32095235G>A	ENST00000375201.4	-	3	270	c.225C>T	c.(223-225)ctC>ctT	p.L75L	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375203.3_Silent_p.L78L			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	78	Transcription activation.				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGATCGGCAGGAGTTCCCATG	0.522													False	0	False	6:32095235	0	A	32095235	G	A	32095235	2	1	88	1	0	0	0	0	0	0	0	1	1089	1161	41	2		2	ATF6B	6	32095235	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30398	32095235	139019832	7019	14731											
ATF6B	1388	broad.mit.edu	37	chr6	32095969	32095969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcagcaatctcgctgagcaGcatcagctccgccatctttc	8	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32095969G>T	ENST00000375201.4	-	1	61	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375203.3_Missense_Mutation_p.L6M			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	6	Transcription activation.				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCGCTGAGCAGCATCAGCTCC	0.607													False	0	False	6:32095969	0	T	32095969	G	T	32095969	3	4	88	1	0	0	0	0	1	0	0	0	1089	962	34	3	2167	3	ATF6B	6	32095969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	734	32095969	139019098	7020	14732											
PPT2	9374	broad.mit.edu	37	chr6	32130591	32130591	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccaccttgaaggtttatcTgcgggattcttttgggttga	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32130591T>C	ENST00000324816.6	+	9	1341	c.773T>C	c.(772-774)cTg>cCg	p.L258P	PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000395523.1_Missense_Mutation_p.L258P|PPT2_ENST00000375143.2_Missense_Mutation_p.L258P|PPT2_ENST00000445576.2_Intron|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000361568.2_Missense_Mutation_p.L264P|PPT2_ENST00000375137.2_Missense_Mutation_p.L258P|PPT2_ENST00000437001.2_Intron			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	258					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						AAGGTTTATCTGCGGGATTCT	0.562													False	0	False	6:32130591	0	C	32130591	T	C	32130591	3	2	88	1	0	0	0	0	1	0	0	0	12486	1580	55	4	825	4	PPT2	6	32130591	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34622	32130591	138984476	7021	14733											
AGPAT1	10554	broad.mit.edu	37	chr6	32137097	32137097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatagtcaccaccaccccGgccatcagtggagatttccc	8	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32137097G>A	ENST00000395499.1	-	7	1387	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	AGPAT1_ENST00000395496.1_Missense_Mutation_p.R270W|AGPAT1_ENST00000412465.2_Missense_Mutation_p.R158W|AGPAT1_ENST00000336984.6_Missense_Mutation_p.R270W|AGPAT1_ENST00000375107.3_Missense_Mutation_p.R270W|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000395497.1_Missense_Mutation_p.R270W|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Missense_Mutation_p.R270W			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	270					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CCACCACCCCGGCCATCAGTG	0.612													False	0	True	6:32137097	0	A	32137097	G	A	32137097	3	1	88	1	0	0	0	0	1	0	0	0	386	1115	39	1	47	1	AGPAT1	6	32137097	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6506	32137097	138977970	7022	14734											
AGPAT1	10554	broad.mit.edu	37	chr6	32138808	32138808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacctccactcggatcccGtacaggtatttgatgtggag	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32138808G>A	ENST00000395499.1	-	3	819	c.240C>T	c.(238-240)taC>taT	p.Y80Y	AGPAT1_ENST00000395496.1_Silent_p.Y80Y|AGPAT1_ENST00000412465.2_Intron|AGPAT1_ENST00000336984.6_Silent_p.Y80Y|AGPAT1_ENST00000375107.3_Silent_p.Y80Y|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000395497.1_Silent_p.Y80Y|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Silent_p.Y80Y			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	80					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CTCGGATCCCGTACAGGTATT	0.567													False	0	True	6:32138808	0	A	32138808	G	A	32138808	2	1	88	1	0	0	0	0	0	0	0	1	386	1140	40	1		1	AGPAT1	6	32138808	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1711	32138808	138976259	7023	14735											
AGER	177	broad.mit.edu	37	chr6	32149346	32149346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcacatgtgttgggggCtatcttctgcttccctgact	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32149346C>T	ENST00000375055.2	-	9	1051	c.1028G>A	c.(1027-1029)aGc>aAc	p.S343N	RNF5_ENST00000427134.2_Intron|AGER_ENST00000375069.3_Intron|AGER_ENST00000438221.2_Missense_Mutation_p.S359N|AGER_ENST00000375067.3_Intron|AGER_ENST00000375065.5_Intron|AGER_ENST00000375070.3_Intron|AGER_ENST00000375076.4_Intron	NM_001206934.1|NM_001206936.1|NM_001206940.1|NM_001206954.1|NM_001206966.1	NP_001193863.1|NP_001193865.1|NP_001193869.1|NP_001193883.1|NP_001193895.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	0					cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GTGTTGGGGGCTATCTTCTGC	0.532													False	0	True	6:32149346	0	T	32149346	C	T	32149346	3	4	88	1	0	0	0	0	1	0	0	0	379	812	28	2		2	AGER	6	32149346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10538	32149346	138965721	7024	14736											
AGER	177	broad.mit.edu	37	chr6	32151969	32151969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagactgaggaccagcaCccaggctccaactgctgttc	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32151969C>T	ENST00000375076.4	-	1	132	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	AGER_ENST00000538695.1_Missense_Mutation_p.V11M|AGER_ENST00000375069.3_De_novo_Start_InFrame|AGER_ENST00000438221.2_Missense_Mutation_p.V11M|AGER_ENST00000375067.3_Missense_Mutation_p.V11M|AGER_ENST00000375065.5_Missense_Mutation_p.V11M|AGER_ENST00000375070.3_Missense_Mutation_p.V42M|AGER_ENST00000375055.2_Missense_Mutation_p.V11M	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	11					cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						AGGACCAGCACCCAGGCTCCA	0.627													False	0	True	6:32151969	0	T	32151969	C	T	32151969	3	4	88	1	0	0	0	0	1	0	0	0	379	507	18	2	1256	2	AGER	6	32151969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2623	32151969	138963098	7025	14737											
NOTCH4	4855	broad.mit.edu	37	chr6	32163591	32163591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctacggaccaagtccgagCctgcagacaagctccgcccc	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32163591C>T	ENST00000375023.3	-	30	5773	c.5635G>A	c.(5635-5637)Gct>Act	p.A1879T	NOTCH4_ENST00000443903.2_3'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1879					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAAGTCCGAGCCTGCAGACAA	0.716													False	0	False	6:32163591	0	T	32163591	C	T	32163591	3	4	88	1	0	0	0	0	1	0	0	0	10619	739	26	2	380	2	NOTCH4	6	32163591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11622	32163591	138951476	7026	14738											
NOTCH4	4855	broad.mit.edu	37	chr6	32164146	32164146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccggcctggagaagcgaGcgggcggctcgggcgttgtt	19	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32164146G>A	ENST00000375023.3	-	29	5391	c.5253C>T	c.(5251-5253)cgC>cgT	p.R1751R	NOTCH4_ENST00000443903.2_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1751					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAGAAGCGAGCGGGCGGCTC	0.622													False	0	True	6:32164146	0	A	32164146	G	A	32164146	2	1	88	1	0	0	0	0	0	0	0	1	10619	958	34	2		2	NOTCH4	6	32164146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	555	32164146	138950921	7027	14739											
NOTCH4	4855	broad.mit.edu	37	chr6	32165082	32165082	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagtgtgtgctaacctggcaGacctcccgagcatcagcagc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32165082G>T	ENST00000375023.3	-	27	5184	c.5046C>A	c.(5044-5046)gtC>gtA	p.V1682V	NOTCH4_ENST00000443903.2_Silent_p.V91V	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1682					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TAACCTGGCAGACCTCCCGAG	0.602													False	0	False	6:32165082	0	T	32165082	G	T	32165082	2	4	88	1	0	0	0	0	0	0	0	1	10619	929	33	3		3	NOTCH4	6	32165082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	936	32165082	138949985	7028	14740											
NOTCH4	4855	broad.mit.edu	37	chr6	32166826	32166826	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctcggcgtcgacgccggAtgagctggaggacgagaaga	17	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32166826A>C	ENST00000375023.3	-	24	4550	c.4412T>G	c.(4411-4413)aTc>aGc	p.I1471S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1471					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCGACGCCGGATGAGCTGGAG	0.682													False	0	False	6:32166826	0	C	32166826	A	C	32166826	3	2	88	1	0	0	0	0	1	0	0	0	10619	333	12	4	1627	4	NOTCH4	6	32166826	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1744	32166826	138948241	7029	14741											
NOTCH4	4855	broad.mit.edu	37	chr6	32171927	32171927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcacctgtgtgtccaggCagacactggcagtagaaggc	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32171927C>T	ENST00000375023.3	-	19	3243	c.3105G>A	c.(3103-3105)ctG>ctA	p.L1035L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1035	EGF-like 26.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTGTCCAGGCAGACACTGGC	0.617													False	0	False	6:32171927	0	T	32171927	C	T	32171927	2	4	88	1	0	0	0	0	0	0	0	1	10619	697	25	2		2	NOTCH4	6	32171927	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5101	32171927	138943140	7030	14742											
NOTCH4	4855	broad.mit.edu	37	chr6	32190387	32190387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggacaagggtcttcaaGcttggcctggcatctctcac	13	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32190387G>A	ENST00000375023.3	-	3	490	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	118	EGF-like 3.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGTCTTCAAGCTTGGCCTGG	0.627													False	0	False	6:32190387	0	A	32190387	G	A	32190387	3	1	88	1	0	0	0	0	1	0	0	0	10619	971	34	2	5771	2	NOTCH4	6	32190387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18460	32190387	138924680	7031	14743											
NOTCH4	4855	broad.mit.edu	37	chr6	32190464	32190464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcaatggagagggagagCtggggagccctaggggagcg	21	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32190464C>A	ENST00000375023.3	-	3	413	c.275G>T	c.(274-276)aGc>aTc	p.S92I		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	92	EGF-like 2.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAGGGAGAGCTGGGGAGCCC	0.617													False	0	False	6:32190464	0	A	32190464	C	A	32190464	3	1	88	1	0	0	0	0	1	0	0	0	10619	797	28	3	5848	3	NOTCH4	6	32190464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	32190464	138924603	7032	14744											
BTNL2	56244	broad.mit.edu	37	chr6	32369565	32369565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacctcgtacttacccaGctcagtctggagtttctctg	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32369565G>A	ENST00000454136.3	-	4	731	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	BTNL2_ENST00000414363.1_Silent_p.L33L|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374993.1_Silent_p.L243L|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000429232.2_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	243	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TACTTACCCAGCTCAGTCTGG	0.468													False	0	False	6:32369565	0	A	32369565	G	A	32369565	2	1	88	1	0	0	0	0	0	0	0	1	1572	962	34	2		2	BTNL2	6	32369565	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179101	32369565	138745502	7033	14745											
BTNL2	56244	broad.mit.edu	37	chr6	32370729	32370729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacctgggaggctgatgaccGaccccttctcctcagtgagg	13	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32370729G>A	ENST00000454136.3	-	3	696	c.692C>T	c.(691-693)tCg>tTg	p.S231L	BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.S231L|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000429232.2_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	231	Ig-like V-type 2.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GCTGATGACCGACCCCTTCTC	0.587													False	0	True	6:32370729	0	A	32370729	G	A	32370729	3	1	88	1	0	0	0	0	1	0	0	0	1572	1059	37	1	691	1	BTNL2	6	32370729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1164	32370729	138744338	7034	14746											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32713601	32713601	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagtgttttccaagtttcCtgtgacgctgggtcagccca	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32713601C>A	ENST00000374940.3	+	3	467	c.365C>A	c.(364-366)cCt>cAt	p.P122H		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	122	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.P122L(1)		endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCAAGTTTCCTGTGACGCTG	0.507													False	0	False	6:32713601	0	A	32713601	C	A	32713601	3	1	88	1	0	0	0	0	1	0	0	0	7252	681	24	3	375	3	HLA-DQA2	6	32713601	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	342872	32713601	138401466	7035	14747											
TAP2	6891	broad.mit.edu	37	chr6	32800500	32800500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatagcgacagacttcatgCtcctcggccccaaaactgcg	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32800500C>T	ENST00000374897.2	-	6	1178	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	TAP2_ENST00000485701.1_5'UTR|TAP2_ENST00000374899.4_Silent_p.E349E|TAP2_ENST00000452392.2_Silent_p.E349E	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	349	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										AGACTTCATGCTCCTCGGCCC	0.597													False	0	False	6:32800500	0	T	32800500	C	T	32800500	2	4	88	1	0	0	0	0	0	0	0	1	15633	796	28	2		2	TAP2	6	32800500	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86899	32800500	138314567	7036	14748											
TAP2	6891	broad.mit.edu	37	chr6	32800519	32800519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcggccccaaaactgCgaacggtctgcagccctcca	9	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32800519C>T	ENST00000374897.2	-	6	1159	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	TAP2_ENST00000374899.4_Missense_Mutation_p.R343H|TAP2_ENST00000452392.2_Missense_Mutation_p.R343H	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	343	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CCCAAAACTGCGAACGGTCTG	0.607													False	0	False	6:32800519	0	T	32800519	C	T	32800519	3	4	88	1	0	0	0	0	1	0	0	0	15633	768	27	1	1145	1	TAP2	6	32800519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	32800519	138314548	7037	14749											
TAP1	6890	broad.mit.edu	37	chr6	32818155	32818155	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttctggttgagtgtctttAtttcttgcagcttttcccta	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32818155A>C	ENST00000354258.4	-	5	1531	c.1370T>G	c.(1369-1371)aTa>aGa	p.I457R	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.I196R	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	457	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						GAGTGTCTTTATTTCTTGCAG	0.517													False	0	True	6:32818155	0	C	32818155	A	C	32818155	3	2	88	1	0	0	0	0	1	0	0	0	15632	449	16	4	1084	4	TAP1	6	32818155	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17636	32818155	138296912	7038	14750											
HLA-DMB	3109	broad.mit.edu	37	chr6	32903416	32903416	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accttcagggtctgcatgggGgacagcccaggtgctgcaaa	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32903416G>T	ENST00000418107.2	-	4	898	c.636C>A	c.(634-636)tcC>tcA	p.S212S		NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	212	Connecting peptide (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTGCATGGGGGACAGCCCAG	0.537													False	0	True	6:32903416	0	T	32903416	G	T	32903416	2	4	88	1	0	0	0	0	0	0	0	1	7246	1219	43	3		3	HLA-DMB	6	32903416	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85261	32903416	138211651	7039	14751											
BRD2	6046	broad.mit.edu	37	chr6	32947695	32947695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcaggcccatgagttaCgatgagaagcggcagctgag	16	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32947695C>T	ENST00000395289.2	+	12	3638	c.2037C>T	c.(2035-2037)taC>taT	p.Y679Y	BRD2_ENST00000374831.4_Silent_p.Y644Y|BRD2_ENST00000443797.2_Silent_p.Y524Y|BRD2_ENST00000395287.1_Silent_p.Y679Y|BRD2_ENST00000449085.2_Silent_p.Y597Y|BRD2_ENST00000374825.4_Silent_p.Y644Y			P25440	BRD2_HUMAN	bromodomain containing 2	644	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCATGAGTTACGATGAGAAGC	0.547													False	0	False	6:32947695	0	T	32947695	C	T	32947695	2	4	88	1	0	0	0	0	0	0	0	1	1509	547	19	1		1	BRD2	6	32947695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44279	32947695	138167372	7040	14752											
HLA-DPA1	3113	broad.mit.edu	37	chr6	33037542	33037542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccaaactcctccagatgCcagacggtctccttcttgtc	8	15	2	2	rs72558171		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33037542C>A	ENST00000419277.1	-	3	351	c.222G>T	c.(220-222)tgG>tgT	p.W74C	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.W74C	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	74	Alpha-1.		W -> C (in allele DPA1*01:10; dbSNP:rs72558171).		antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCTCCAGATGCCAGACGGTCT	0.468													False	0	False	6:33037542	0	A	33037542	C	A	33037542	3	1	88	1	0	0	0	0	1	0	0	0	7249	740	26	3	572	3	HLA-DPA1	6	33037542	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89847	33037542	138077525	7041	14753											
COL11A2	1302	broad.mit.edu	37	chr6	33144231	33144231	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgacccctcgaggtcctggGtatcctagaggtccctgagg	13	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33144231G>T	ENST00000341947.2	-	27	2375	c.2148C>A	c.(2146-2148)taC>taA	p.Y716*	COL11A2_ENST00000395197.1_Nonsense_Mutation_p.Y656*|COL11A2_ENST00000374708.4_Nonsense_Mutation_p.Y630*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.Y609*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.Y669*|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.Y690*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.Y695*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.Y635*|COL11A2_ENST00000477772.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	716	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GAGGTCCTGGGTATCCTAGAG	0.572													False	0	True	6:33144231	0	T	33144231	G	T	33144231	4	4	88	1	0	0	0	0	0	1	0	0	3691	1256	44	3	3222	3	COL11A2	6	33144231	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106689	33144231	137970836	7042	14754											
COL11A2	1302	broad.mit.edu	37	chr6	33145207	33145207	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgggtcccaggggtgccCtgttgtccaggaggtcctgg	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33145207C>A	ENST00000341947.2	-	23	2180	c.1953G>T	c.(1951-1953)caG>caT	p.Q651H	COL11A2_ENST00000395197.1_Missense_Mutation_p.Q591H|COL11A2_ENST00000374708.4_Missense_Mutation_p.Q565H|COL11A2_ENST00000361917.1_Missense_Mutation_p.Q544H|COL11A2_ENST00000374713.1_Missense_Mutation_p.Q604H|COL11A2_ENST00000374714.1_Missense_Mutation_p.Q625H|COL11A2_ENST00000357486.1_Missense_Mutation_p.Q630H|COL11A2_ENST00000374712.1_Missense_Mutation_p.Q570H|COL11A2_ENST00000477772.1_5'UTR	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	651	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGGGGTGCCCTGTTGTCCAG	0.567													False	0	True	6:33145207	0	A	33145207	C	A	33145207	3	1	88	1	0	0	0	0	1	0	0	0	3691	680	24	3	3433	3	COL11A2	6	33145207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	976	33145207	137969860	7043	14755											
SLC39A7	7922	broad.mit.edu	37	chr6	33169572	33169572	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctccattttttgtcctcttCcttatccccgtggagtcgaa	7	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33169572C>T	ENST00000374677.3	+	2	835	c.462C>T	c.(460-462)ttC>ttT	p.F154F	SLC39A7_ENST00000374675.3_Silent_p.F154F	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	154						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTGTCCTCTTCCTTATCCCCG	0.547													False	0	False	6:33169572	0	T	33169572	C	T	33169572	2	4	88	1	0	0	0	0	0	0	0	1	14703	854	30	2		2	SLC39A7	6	33169572	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24365	33169572	137945495	7044	14756											
SLC39A7	7922	broad.mit.edu	37	chr6	33170375	33170375	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcagagctcagaggaagaaGaaaaggaaacaagaggggtt	15	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33170375G>T	ENST00000374677.3	+	5	1211	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Nonsense_Mutation_p.E280*	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	280			E -> G (in dbSNP:rs1048778).			endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGAGGAAGAAGAAAAGGAAAC	0.502													False	0	True	6:33170375	0	T	33170375	G	T	33170375	4	4	88	1	0	0	0	0	0	1	0	0	14703	943	33	3	856	3	SLC39A7	6	33170375	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	803	33170375	137944692	7045	14757											
RING1	6015	broad.mit.edu	37	chr6	33179292	33179292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttccggccccaccccctGctcgtggagaagggagaata	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33179292G>A	ENST00000374656.4	+	5	1021	c.813G>A	c.(811-813)ctG>ctA	p.L271L	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	271	Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CCCACCCCCTGCTCGTGGAGA	0.627													False	0	False	6:33179292	0	A	33179292	G	A	33179292	2	1	88	1	0	0	0	0	0	0	0	1	13453	1306	46	2		2	RING1	6	33179292	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8917	33179292	137935775	7046	14758											
RING1	6015	broad.mit.edu	37	chr6	33179615	33179615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaggggagccaggagggCctggagggggcgcctctgac	20	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33179615C>T	ENST00000374656.4	+	6	1163	c.955C>T	c.(955-957)Cct>Tct	p.P319S	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	319	Gly-rich.|Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GCCAGGAGGGCCTGGAGGGGG	0.672													False	0	True	6:33179615	0	T	33179615	C	T	33179615	3	4	88	1	0	0	0	0	1	0	0	0	13453	739	26	2	973	2	RING1	6	33179615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	323	33179615	137935452	7047	14759											
VPS52	6293	broad.mit.edu	37	chr6	33218738	33218738	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acccggtggaagcgatgataGagctggatcagctgggtcag	16	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33218738G>T	ENST00000445902.2	-	20	2270	c.2052C>A	c.(2050-2052)ctC>ctA	p.L684L	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Silent_p.L559L|HCG25_ENST00000422366.1_RNA|VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000450514.1_RNA|HCG25_ENST00000442228.1_RNA|HCG25_ENST00000427196.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	684					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AGCGATGATAGAGCTGGATCA	0.537													False	0	False	6:33218738	0	T	33218738	G	T	33218738	2	4	88	1	0	0	0	0	0	0	0	1	17298	929	33	3		3	VPS52	6	33218738	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39123	33218738	137896329	7048	14760											
B3GALT4	8705	broad.mit.edu	37	chr6	33245202	33245202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtacgccgcaccatgcaGctcaggctcttccggcgcct	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33245202G>A	ENST00000451237.1	+	1	286	c.6G>A	c.(4-6)caG>caA	p.Q2Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	2					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GCACCATGCAGCTCAGGCTCT	0.677													False	0	False	6:33245202	0	A	33245202	G	A	33245202	2	1	88	1	0	0	0	0	0	0	0	1	1253	962	34	2		2	B3GALT4	6	33245202	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26464	33245202	137869865	7049	14761											
B3GALT4	8705	broad.mit.edu	37	chr6	33245950	33245950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtatcagaggagcagtggCctcacacctggggccccttt	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33245950C>T	ENST00000451237.1	+	1	1034	c.754C>T	c.(754-756)Cct>Tct	p.P252S		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	252					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGAGCAGTGGCCTCACACCTG	0.657													False	0	False	6:33245950	0	T	33245950	C	T	33245950	3	4	88	1	0	0	0	0	1	0	0	0	1253	739	26	2	756	2	B3GALT4	6	33245950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	748	33245950	137869117	7050	14762											
WDR46	9277	broad.mit.edu	37	chr6	33247071	33247071	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcagcgcacaaatctgtcCagggcagatggccgggcccc	13	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33247071C>A	ENST00000374617.4	-	15	2171	c.1815G>T	c.(1813-1815)ctG>ctT	p.L605L	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	605										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CAAATCTGTCCAGGGCAGATG	0.617													False	0	False	6:33247071	0	A	33247071	C	A	33247071	2	1	88	1	0	0	0	0	0	0	0	1	17383	581	21	3		3	WDR46	6	33247071	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1121	33247071	137867996	7051	14763											
WDR46	9277	broad.mit.edu	37	chr6	33256731	33256731	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcttgttacgaggaggCcctggagaggctccggctgt	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33256731C>T	ENST00000374617.4	-	2	485	c.129G>A	c.(127-129)ggG>ggA	p.G43G	WDR46_ENST00000477718.1_5'UTR	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	43										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TACGAGGAGGCCCTGGAGAGG	0.572													False	0	True	6:33256731	0	T	33256731	C	T	33256731	2	4	88	1	0	0	0	0	0	0	0	1	17383	726	26	2		2	WDR46	6	33256731	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9660	33256731	137858336	7052	14764											
RGL2	5863	broad.mit.edu	37	chr6	33259941	33259941	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgggaaaggagccccctcCtccctcactcggaggagttc	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33259941C>A	ENST00000497454.1	-	18	2767	c.2272G>T	c.(2272-2274)Gga>Tga	p.G758*	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	758					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GAGCCCCCTCCTCCCTCACTC	0.602													False	0	True	6:33259941	0	A	33259941	C	A	33259941	4	1	88	1	0	0	0	0	0	1	0	0	13356	690	24	3	65	3	RGL2	6	33259941	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3210	33259941	137855126	7053	14765											
TAPBP	6892	broad.mit.edu	37	chr6	33272389	33272389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcccgtgcaagggttgCtggcatcagggacactttgg	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33272389C>T	ENST00000434618.2	-	5	1240	c.895G>A	c.(895-897)Gca>Aca	p.A299T	TAPBP_ENST00000426633.2_Missense_Mutation_p.A299T|TAPBP_ENST00000475304.1_Missense_Mutation_p.A317T|TAPBP_ENST00000456592.2_Missense_Mutation_p.A299T|TAPBP_ENST00000489157.1_Missense_Mutation_p.A212T	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	299	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GCAAGGGTTGCTGGCATCAGG	0.592													False	0	False	6:33272389	0	T	33272389	C	T	33272389	3	4	88	1	0	0	0	0	1	0	0	0	15634	797	28	2	647	2	TAPBP	6	33272389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12448	33272389	137842678	7054	14766											
ZBTB22	0	broad.mit.edu	37	chr6	33284326	33284326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaggaagttgacaatgTcagcagcagccatgctgagg	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33284326T>C	ENST00000431845.2	-	2	519	c.368A>G	c.(367-369)gAc>gGc	p.D123G	ZBTB22_ENST00000418724.1_Missense_Mutation_p.D123G	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GTTGACAATGTCAGCAGCAGC	0.582													False	0	True	6:33284326	0	C	33284326	T	C	33284326	3	2	88	1	0	0	0	0	1	0	0	0	17613	1667	58	4	1540	4	ZBTB22	6	33284326	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11937	33284326	137830741	7055	14767											
ZBTB22	0	broad.mit.edu	37	chr6	33284660	33284660	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgacagcggcaggggaagtgCtgccccactgggagacagag	17	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33284660C>A	ENST00000431845.2	-	2	185	c.34G>T	c.(34-36)Gca>Tca	p.A12S	ZBTB22_ENST00000418724.1_Missense_Mutation_p.A12S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGGGGAAGTGCTGCCCCACTG	0.652													False	0	False	6:33284660	0	A	33284660	C	A	33284660	3	1	88	1	0	0	0	0	1	0	0	0	17613	797	28	3	1874	3	ZBTB22	6	33284660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334	33284660	137830407	7056	14768											
DAXX	1616	broad.mit.edu	37	chr6	33287473	33287473	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctttcagcatctatgcTggagggggccaggggttctt	14	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33287473T>C	ENST00000374542.5	-	6	1828	c.1624A>G	c.(1624-1626)Agc>Ggc	p.S542G	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Missense_Mutation_p.S467G|DAXX_ENST00000266000.6_Missense_Mutation_p.S542G	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	542	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATCTATGCTGGAGGGGGCC	0.522			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								False	0	False	6:33287473	0	C	33287473	T	C	33287473	3	2	88	1	0	0	0	0	1	0	0	0	4268	1580	55	4	610	4	DAXX	6	33287473	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2813	33287473	137827594	7057	14769											
DAXX	1616	broad.mit.edu	37	chr6	33288663	33288663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggctgtgtcgggcagCtgccttctctacagcccgaa	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33288663C>A	ENST00000374542.5	-	3	1093	c.889G>T	c.(889-891)Gct>Tct	p.A297S	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.A222S|DAXX_ENST00000266000.6_Missense_Mutation_p.A297S	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	297					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.A297P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGTCGGGCAGCTGCCTTCTCT	0.597			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								False	0	False	6:33288663	0	A	33288663	C	A	33288663	3	1	88	1	0	0	0	0	1	0	0	0	4268	797	28	3	1357	3	DAXX	6	33288663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1190	33288663	137826404	7058	14770											
DAXX	1616	broad.mit.edu	37	chr6	33288802	33288802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgctgctctatgacacgGccggtcagtgaagagcagtc	13	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33288802G>A	ENST00000374542.5	-	3	954	c.750C>T	c.(748-750)ggC>ggT	p.G250G	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Silent_p.G175G|DAXX_ENST00000266000.6_Silent_p.G250G	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	250					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CTATGACACGGCCGGTCAGTG	0.587			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								False	0	False	6:33288802	0	A	33288802	G	A	33288802	2	1	88	1	0	0	0	0	0	0	0	1	4268	1190	42	2		2	DAXX	6	33288802	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139	33288802	137826265	7059	14771											
PHF1	5252	broad.mit.edu	37	chr6	33382062	33382062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatcacctcagtgtttgCtgtaagaagaaatactttga	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33382062C>T	ENST00000374516.3	+	9	1066	c.795C>T	c.(793-795)tgC>tgT	p.C265C	PHF1_ENST00000374512.3_Silent_p.C265C	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	265					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCAGTGTTTGCTGTAAGAAGA	0.468											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	6:33382062	0	T	33382062	C	T	33382062	2	4	88	1	0	0	0	0	0	0	0	1	11889	805	28	2		2	PHF1	6	33382062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93260	33382062	137733005	7060	14772											
PHF1	5252	broad.mit.edu	37	chr6	33382914	33382914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggctcatctgcagagggCactgcaggtactggagcagg	17	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33382914C>T	ENST00000374516.3	+	12	1503	c.1232C>T	c.(1231-1233)gCa>gTa	p.A411V	PHF1_ENST00000374512.3_Silent_p.G407G	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	411					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTGCAGAGGGCACTGCAGGTA	0.622											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	6:33382914	0	T	33382914	C	T	33382914	3	4	88	1	0	0	0	0	1	0	0	0	11889	710	25	2	1274	2	PHF1	6	33382914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	852	33382914	137732153	7061	14773											
SYNGAP1	8831	broad.mit.edu	37	chr6	33391298	33391298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacccaatacgttcattccCcgtatgatcgtcctggttgg	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33391298C>T	ENST00000418600.2	+	2	213	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P38S|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	38					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CGTTCATTCCCCGTATGATCG	0.542													False	0	True	6:33391298	0	T	33391298	C	T	33391298	3	4	88	1	0	0	0	0	1	0	0	0	15529	623	22	2	118	2	SYNGAP1	6	33391298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8384	33391298	137723769	7062	14774											
SYNGAP1	8831	broad.mit.edu	37	chr6	33399973	33399973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcgaggaggaagagtgtcCcaggggggaagcagtacagc	18	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33399973C>A	ENST00000418600.2	+	4	432	c.331C>A	c.(331-333)Cca>Aca	p.P111T	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P52T|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P111T|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	111					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAAGAGTGTCCCAGGGGGGAA	0.637													False	0	True	6:33399973	0	A	33399973	C	A	33399973	3	1	88	1	0	0	0	0	1	0	0	0	15529	623	22	3	345	3	SYNGAP1	6	33399973	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8675	33399973	137715094	7063	14775											
ZBTB9	221504	broad.mit.edu	37	chr6	33423403	33423403	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcattcgctcttcgcctTtccagaccccagtacagtcc	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33423403T>G	ENST00000395064.2	+	2	794	c.526T>G	c.(526-528)Ttc>Gtc	p.F176V		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CTCTTCGCCTTTCCAGACCCC	0.542													False	0	True	6:33423403	0	G	33423403	T	G	33423403	3	3	88	1	0	0	0	0	1	0	0	0	17641	1841	64	4	528	4	ZBTB9	6	33423403	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23430	33423403	137691664	7064	14776											
BAK1	578	broad.mit.edu	37	chr6	33541918	33541918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcaggccatgctggtagaCgtgtagggccagacggtagc	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33541918C>T	ENST00000374467.3	-	5	672	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	BAK1_ENST00000360661.5_Missense_Mutation_p.V142I|BAK1_ENST00000442998.2_Silent_p.T148T	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	142					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						TGCTGGTAGACGTGTAGGGCC	0.597													False	0	False	6:33541918	0	T	33541918	C	T	33541918	3	4	88	1	0	0	0	0	1	0	0	0	1309	536	19	1	219	1	BAK1	6	33541918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118515	33541918	137573149	7065	14777											
BAK1	578	broad.mit.edu	37	chr6	33543127	33543127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctctgccgtgggctgcaGgtgctgcaacatggtctgga	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33543127G>A	ENST00000374467.3	-	4	546	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	BAK1_ENST00000360661.5_Silent_p.L100L|BAK1_ENST00000442998.2_Silent_p.L100L	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	100					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GTGGGCTGCAGGTGCTGCAAC	0.592													False	0	False	6:33543127	0	A	33543127	G	A	33543127	2	1	88	1	0	0	0	0	0	0	0	1	1309	991	35	2		2	BAK1	6	33543127	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1209	33543127	137571940	7066	14778											
ITPR3	3710	broad.mit.edu	37	chr6	33626894	33626894	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcgacaacgccggctgcaagGaggtgagggggtggggggtc	22	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33626894G>T	ENST00000374316.5	+	7	1685	c.625G>T	c.(625-627)Gag>Tag	p.E209*	ITPR3_ENST00000605930.1_Nonsense_Mutation_p.E209*			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	209	MIR 2.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CGGCTGCAAGGAGGTGAGGGG	0.642													False	0	False	6:33626894	0	T	33626894	G	T	33626894	4	4	88	1	0	0	0	0	0	1	0	0	7972	1175	41	3	647	3	ITPR3	6	33626894	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83767	33626894	137488173	7067	14779											
ITPR3	3710	broad.mit.edu	37	chr6	33630418	33630418	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgccagtctgccacctcGgccaccagctccaatgctct	8	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33630418G>A	ENST00000374316.5	+	9	1885	c.825G>A	c.(823-825)tcG>tcA	p.S275S	ITPR3_ENST00000605930.1_Silent_p.S275S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	275	MIR 3.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTGCCACCTCGGCCACCAGCT	0.617													False	0	False	6:33630418	0	A	33630418	G	A	33630418	2	1	88	1	0	0	0	0	0	0	0	1	7972	1103	39	1		1	ITPR3	6	33630418	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3524	33630418	137484649	7068	14780											
ITPR3	3710	broad.mit.edu	37	chr6	33633694	33633694	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatgtcctggacatcatgGtcactaagcccaaccgggaa	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33633694G>T	ENST00000374316.5	+	15	2552	c.1492G>T	c.(1492-1494)Gtc>Ttc	p.V498F	ITPR3_ENST00000605930.1_Missense_Mutation_p.V498F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	498					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGACATCATGGTCACTAAGCC	0.592													False	0	False	6:33633694	0	T	33633694	G	T	33633694	3	4	88	1	0	0	0	0	1	0	0	0	7972	1261	44	3	1546	3	ITPR3	6	33633694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3276	33633694	137481373	7069	14781											
ITPR3	3710	broad.mit.edu	37	chr6	33634963	33634963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgaaggtcccctggtgCggctggaggagctgtcagac	19	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33634963C>T	ENST00000374316.5	+	16	2669	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	ITPR3_ENST00000605930.1_Missense_Mutation_p.R537W			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	537					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCCCCTGGTGCGGCTGGAGGA	0.602													False	0	False	6:33634963	0	T	33634963	C	T	33634963	3	4	88	1	0	0	0	0	1	0	0	0	7972	759	27	1	1667	1	ITPR3	6	33634963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1269	33634963	137480104	7070	14782											
ITPR3	3710	broad.mit.edu	37	chr6	33647765	33647765	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacggcgtggaggaccacaGccccctcatgtaccacattt	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33647765G>T	ENST00000374316.5	+	32	5139	c.4079G>T	c.(4078-4080)aGc>aTc	p.S1360I	ITPR3_ENST00000605930.1_Missense_Mutation_p.S1360I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1360					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GAGGACCACAGCCCCCTCATG	0.602													False	0	True	6:33647765	0	T	33647765	G	T	33647765	3	4	88	1	0	0	0	0	1	0	0	0	7972	971	34	3	4201	3	ITPR3	6	33647765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12802	33647765	137467302	7071	14783											
ITPR3	3710	broad.mit.edu	37	chr6	33652166	33652166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccaaggacctcatggagtCggaggagaagctgtgcatca	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33652166C>T	ENST00000374316.5	+	38	6030	c.4970C>T	c.(4969-4971)tCg>tTg	p.S1657L	ITPR3_ENST00000605930.1_Missense_Mutation_p.S1657L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1657					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTCATGGAGTCGGAGGAGAAG	0.637													False	0	False	6:33652166	0	T	33652166	C	T	33652166	3	4	88	1	0	0	0	0	1	0	0	0	7972	893	31	1	5116	1	ITPR3	6	33652166	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4401	33652166	137462901	7072	14784											
ITPR3	3710	broad.mit.edu	37	chr6	33656032	33656032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagattgtgcggcaggaccGcagcatggagcagatcgtgt	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33656032G>A	ENST00000374316.5	+	49	7452	c.6392G>A	c.(6391-6393)cGc>cAc	p.R2131H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2131H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2131					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CGGCAGGACCGCAGCATGGAG	0.652													False	0	False	6:33656032	0	A	33656032	G	A	33656032	3	1	88	1	0	0	0	0	1	0	0	0	7972	1087	38	1	6582	1	ITPR3	6	33656032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3866	33656032	137459035	7073	14785											
ITPR3	3710	broad.mit.edu	37	chr6	33663516	33663516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcggaaacgcaggcaaCgcctaggctttgtggatgtc	14	10	0	0	rs138851075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33663516C>T	ENST00000374316.5	+	59	9035	c.7975C>T	c.(7975-7977)Cgc>Tgc	p.R2659C	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2659C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2659					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACGCAGGCAACGCCTAGGCTT	0.602													False	0	False	6:33663516	0	T	33663516	C	T	33663516	3	4	88	1	0	0	0	0	1	0	0	0	7972	536	19	1	8205	1	ITPR3	6	33663516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7484	33663516	137451551	7074	14786											
LEMD2	221496	broad.mit.edu	37	chr6	33744789	33744789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcctacatatggatagcGctccatgtcctgctcccagt	9	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33744789G>A	ENST00000293760.5	-	8	1322	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	LEMD2_ENST00000508327.1_Missense_Mutation_p.R133C|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	435						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TATGGATAGCGCTCCATGTCC	0.617													False	0	False	6:33744789	0	A	33744789	G	A	33744789	3	1	88	1	0	0	0	0	1	0	0	0	8771	1087	38	1	216	1	LEMD2	6	33744789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81273	33744789	137370278	7075	14787											
LEMD2	221496	broad.mit.edu	37	chr6	33744826	33744826	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagtccacgtaatggtcctgGaccacgtctgcaggagagag	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33744826G>T	ENST00000293760.5	-	8	1285	c.1266C>A	c.(1264-1266)gtC>gtA	p.V422V	LEMD2_ENST00000508327.1_Silent_p.V120V|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	422						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						AATGGTCCTGGACCACGTCTG	0.582													False	0	False	6:33744826	0	T	33744826	G	T	33744826	2	4	88	1	0	0	0	0	0	0	0	1	8771	1161	41	3		3	LEMD2	6	33744826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	33744826	137370241	7076	14788											
LEMD2	221496	broad.mit.edu	37	chr6	33746091	33746091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagccaacacccatgcGggggtgggcagattccaggc	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33746091G>A	ENST00000293760.5	-	6	1103	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	LEMD2_ENST00000508327.1_Missense_Mutation_p.R60C|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	362						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						ACACCCATGCGGGGGTGGGCA	0.587													False	0	True	6:33746091	0	A	33746091	G	A	33746091	3	1	88	1	0	0	0	0	1	0	0	0	8771	1116	39	1	443	1	LEMD2	6	33746091	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1265	33746091	137368976	7077	14789											
LEMD2	221496	broad.mit.edu	37	chr6	33752178	33752178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgcagcagctccagcaaGgctgccttctgcttggcctg	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33752178G>A	ENST00000293760.5	-	3	823	c.804C>T	c.(802-804)gcC>gcT	p.A268A	LEMD2_ENST00000508327.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	268						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GCTCCAGCAAGGCTGCCTTCT	0.552													False	0	False	6:33752178	0	A	33752178	G	A	33752178	2	1	88	1	0	0	0	0	0	0	0	1	8771	987	35	2		2	LEMD2	6	33752178	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6087	33752178	137362889	7078	14790											
MLN	4295	broad.mit.edu	37	chr6	33768931	33768931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcagccacagccttacGggataccatcttggagctgg	12	12	1	1	rs140882390	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33768931G>A	ENST00000430124.2	-	2	75	c.10C>T	c.(10-12)Cgt>Tgt	p.R4C	MLN_ENST00000266003.5_Missense_Mutation_p.R4C|MLN_ENST00000507738.1_Missense_Mutation_p.R4C	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	4					cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						ACAGCCTTACGGGATACCATC	0.577													False	0	True	6:33768931	0	A	33768931	G	A	33768931	3	1	88	1	0	0	0	0	1	0	0	0	9698	1116	39	1	353	1	MLN	6	33768931	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16753	33768931	137346136	7079	14791											
GRM4	2914	broad.mit.edu	37	chr6	33996020	33996020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttgaggctgcgcttgcGcttgggcacgttctgctccg	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33996020G>A	ENST00000538487.2	-	10	3009	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	GRM4_ENST00000455714.2_Missense_Mutation_p.R716C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Missense_Mutation_p.R740C|GRM4_ENST00000374181.4_Missense_Mutation_p.R856C|GRM4_ENST00000544773.2_Missense_Mutation_p.R687C|GRM4_ENST00000609222.1_Missense_Mutation_p.R723C|GRM4_ENST00000535756.1_Missense_Mutation_p.R723C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTGCGCTTGCGCTTGGGCACG	0.602													False	0	True	6:33996020	0	A	33996020	G	A	33996020	3	1	88	1	0	0	0	0	1	0	0	0	6846	1087	38	1	180	1	GRM4	6	33996020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227089	33996020	137119047	7080	14792											
GRM4	2914	broad.mit.edu	37	chr6	34004315	34004315	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccgctcacccggttgGcagggcaggctgcagatgga	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34004315G>A	ENST00000538487.2	-	9	2015	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	GRM4_ENST00000455714.2_Silent_p.C384C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Silent_p.C408C|GRM4_ENST00000374181.4_Silent_p.C524C|GRM4_ENST00000544773.2_Silent_p.C355C|GRM4_ENST00000609222.1_Silent_p.C391C|GRM4_ENST00000535756.1_Silent_p.C391C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CACCCGGTTGGCAGGGCAGGC	0.627													False	0	True	6:34004315	0	A	34004315	G	A	34004315	2	1	88	1	0	0	0	0	0	0	0	1	6846	1195	42	2		2	GRM4	6	34004315	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8295	34004315	137110752	7081	14793											
PACSIN1	0	broad.mit.edu	37	chr6	34497247	34497247	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catgacacgggagatgaacaGcaagacggagcaatcggtca	13	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34497247G>T	ENST00000538621.1	+	5	775	c.530G>T	c.(529-531)aGc>aTc	p.S177I	PACSIN1_ENST00000374043.2_Missense_Mutation_p.S135I|PACSIN1_ENST00000244458.2_Missense_Mutation_p.S177I|PACSIN1_ENST00000486120.1_3'UTR	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	177					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GAGATGAACAGCAAGACGGAG	0.562													False	0	False	6:34497247	0	T	34497247	G	T	34497247	3	4	88	1	0	0	0	0	1	0	0	0	11442	971	34	3	544	3	PACSIN1	6	34497247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	492932	34497247	136617820	7082	14794											
PACSIN1	0	broad.mit.edu	37	chr6	34499506	34499506	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgactccaagggagtgcgCgtgcgggcactctacgacta	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34499506C>T	ENST00000538621.1	+	9	1412	c.1167C>T	c.(1165-1167)cgC>cgT	p.R389R	PACSIN1_ENST00000374043.2_Silent_p.R347R|PACSIN1_ENST00000244458.2_Silent_p.R389R	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	389	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGGAGTGCGCGTGCGGGCAC	0.657													False	0	False	6:34499506	0	T	34499506	C	T	34499506	2	4	88	1	0	0	0	0	0	0	0	1	11442	755	27	1		1	PACSIN1	6	34499506	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2259	34499506	136615561	7083	14795											
C6orf106	64771	broad.mit.edu	37	chr6	34574651	34574651	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactcctaaaagtccacccAcctccacactgagaatcacc	3	17	1	1	rs149349132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34574651A>G	ENST00000374023.3	-	4	785	c.542T>C	c.(541-543)gTg>gCg	p.V181A	C6orf106_ENST00000374026.3_Missense_Mutation_p.V115A|C6orf106_ENST00000374021.1_Missense_Mutation_p.V107A	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	181										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						AAGTCCACCCACCTCCACACT	0.463													False	0	True	6:34574651	0	G	34574651	A	G	34574651	3	3	88	1	0	0	0	0	1	0	0	0	2336	159	6	4	362	4	C6orf106	6	34574651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75145	34574651	136540416	7084	14796											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34789517	34789517	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacctggagctggatgaagaGgttctacagaatgtactgga	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34789517G>T	ENST00000192788.5	+	2	303	c.132G>T	c.(130-132)gaG>gaT	p.E44D	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.E44D	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	44										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGATGAAGAGGTTCTACAGA	0.522													False	0	False	6:34789517	0	T	34789517	G	T	34789517	3	4	88	1	0	0	0	0	1	0	0	0	17052	991	35	3	138	3	UHRF1BP1	6	34789517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214866	34789517	136325550	7085	14797											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34803134	34803134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgacctgctctgggtgCtgactgactcacagctcaag	12	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34803134C>T	ENST00000192788.5	+	7	904	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L	UHRF1BP1_ENST00000452449.2_Silent_p.L245L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	245										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCTCTGGGTGCTGACTGACTC	0.502													False	0	True	6:34803134	0	T	34803134	C	T	34803134	2	4	88	1	0	0	0	0	0	0	0	1	17052	796	28	2		2	UHRF1BP1	6	34803134	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13617	34803134	136311933	7086	14798											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34824616	34824616	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgagagaagcccctctcaGggcagacagcctgcctttca	10	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34824616G>T	ENST00000192788.5	+	11	1512	c.1341G>T	c.(1339-1341)caG>caT	p.Q447H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.Q447H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	447										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCCCTCTCAGGGCAGACAGC	0.488													False	0	True	6:34824616	0	T	34824616	G	T	34824616	3	4	88	1	0	0	0	0	1	0	0	0	17052	991	35	3	1383	3	UHRF1BP1	6	34824616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21482	34824616	136290451	7087	14799											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34827139	34827139	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctggcagggagactgctgtGaatggacagggtgagctcat	17	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34827139G>A	ENST00000192788.5	+	14	3177	c.3006G>A	c.(3004-3006)gtG>gtA	p.V1002V	UHRF1BP1_ENST00000452449.2_Silent_p.V1002V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1002										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGACTGCTGTGAATGGACAGG	0.537													False	0	False	6:34827139	0	A	34827139	G	A	34827139	2	1	88	1	0	0	0	0	0	0	0	1	17052	1277	45	2		2	UHRF1BP1	6	34827139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2523	34827139	136287928	7088	14800											
ANKS1A	23294	broad.mit.edu	37	chr6	34935091	34935091	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatgctgctttgaatggCcataagtaagtatcaatgta	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34935091C>T	ENST00000360359.3	+	2	411	c.273C>T	c.(271-273)ggC>ggT	p.G91G	ANKS1A_ENST00000535627.1_Silent_p.G91G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	91						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTTTGAATGGCCATAAGTAAG	0.463													False	0	False	6:34935091	0	T	34935091	C	T	34935091	2	4	88	1	0	0	0	0	0	0	0	1	688	726	26	2		2	ANKS1A	6	34935091	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107952	34935091	136179976	7089	14801											
ANKS1A	23294	broad.mit.edu	37	chr6	34937945	34937945	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccagagtcaatgaacaggTcggaaggaagggaggctttc	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34937945T>C	ENST00000360359.3	+	3	573		c.e3+2		ANKS1A_ENST00000535627.1_Splice_Site	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A							cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AATGAACAGGTCGGAAGGAAG	0.527													False	0	False	6:34937945	0	C	34937945	T	C	34937945	5	2	88	1	0	0	0	0	0	0	1	0	688	1681	58	4	447	4	ANKS1A	6	34937945	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2854	34937945	136177122	7090	14802											
ANKS1A	23294	broad.mit.edu	37	chr6	34953057	34953057	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgctggagtgaggcctgTatgtgacccggggcttacac	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34953057T>G	ENST00000360359.3	+	8	1347		c.e8+2		ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A							cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTGAGGCCTGTATGTGACCCG	0.622													False	0	False	6:34953057	0	G	34953057	T	G	34953057	5	3	88	1	0	0	0	0	0	0	1	0	688	1652	57	4	1241	4	ANKS1A	6	34953057	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15112	34953057	136162010	7091	14803											
ANKS1A	23294	broad.mit.edu	37	chr6	34985670	34985670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccactagcaaacccaaagCtgaactcaaactcagccgca	5	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34985670C>A	ENST00000360359.3	+	11	1982	c.1844C>A	c.(1843-1845)gCt>gAt	p.A615D	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	615						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACCCAAAGCTGAACTCAAA	0.582													False	0	False	6:34985670	0	A	34985670	C	A	34985670	3	1	88	1	0	0	0	0	1	0	0	0	688	797	28	3	1886	3	ANKS1A	6	34985670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32613	34985670	136129397	7092	14804											
SCUBE3	222663	broad.mit.edu	37	chr6	35210976	35210976	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagcagagccgatggagtcCtgtaggcccgggcagcaccg	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35210976C>A	ENST00000274938.7	+	15	1872	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	SCUBE3_ENST00000394681.1_Silent_p.S640S	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	624					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CGATGGAGTCCTGTAGGCCCG	0.632													False	0	False	6:35210976	0	A	35210976	C	A	35210976	2	1	88	1	0	0	0	0	0	0	0	1	14027	668	24	3		3	SCUBE3	6	35210976	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225306	35210976	135904091	7093	14805											
ZNF76	7629	broad.mit.edu	37	chr6	35254112	35254112	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttacagaagctctctccttTgaggatggtcagcctgtgca	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35254112T>C	ENST00000373953.3	+	4	434	c.168T>C	c.(166-168)ttT>ttC	p.F56F	ZNF76_ENST00000339411.5_Silent_p.F56F|ZNF76_ENST00000440666.2_Intron	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	56	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTCTCTCCTTTGAGGATGGTC	0.577													False	0	True	6:35254112	0	C	35254112	T	C	35254112	2	2	88	1	0	0	0	0	0	0	0	1	18217	1809	63	4		4	ZNF76	6	35254112	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43136	35254112	135860955	7094	14806											
ZNF76	7629	broad.mit.edu	37	chr6	35255528	35255528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcaccatcctggccgTacagacagaggtgggcttgg	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35255528T>C	ENST00000373953.3	+	5	604	c.338T>C	c.(337-339)gTa>gCa	p.V113A	ZNF76_ENST00000339411.5_Missense_Mutation_p.V113A|ZNF76_ENST00000440666.2_Missense_Mutation_p.V87A	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	113					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ATCCTGGCCGTACAGACAGAG	0.607													False	0	True	6:35255528	0	C	35255528	T	C	35255528	3	2	88	1	0	0	0	0	1	0	0	0	18217	1638	57	4	352	4	ZNF76	6	35255528	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1416	35255528	135859539	7095	14807											
DEF6	50619	broad.mit.edu	37	chr6	35285747	35285747	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatgagatgagcgcctcagAcacgcgccagcgccaggagt	14	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35285747A>T	ENST00000316637.5	+	6	892	c.887A>T	c.(886-888)gAc>gTc	p.D296V	DEF6_ENST00000542066.1_Missense_Mutation_p.D41V|DEF6_ENST00000468102.1_3'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	296	PH.					cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AGCGCCTCAGACACGCGCCAG	0.612													False	0	False	6:35285747	0	T	35285747	A	T	35285747	3	4	88	1	0	0	0	0	1	0	0	0	4411	275	10	5	909	5	DEF6	6	35285747	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30219	35285747	135829320	7096	14808											
PPARD	5467	broad.mit.edu	37	chr6	35393666	35393666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatccaggacaccatcctgcGtgccctcgaattccacctgc	7	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35393666G>A	ENST00000311565.4	+	9	1485	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	PPARD_ENST00000418635.2_Missense_Mutation_p.R281H|PPARD_ENST00000360694.3_Missense_Mutation_p.R379H|PPARD_ENST00000540939.1_Missense_Mutation_p.R276H|PPARD_ENST00000448077.2_Missense_Mutation_p.R340H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	379	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R379H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	ACCATCCTGCGTGCCCTCGAA	0.627													False	0	False	6:35393666	0	A	35393666	G	A	35393666	3	1	88	1	0	0	0	0	1	0	0	0	12367	1145	40	1	1183	1	PPARD	6	35393666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107919	35393666	135721401	7097	14809											
RPL10A	4736	broad.mit.edu	37	chr6	35438416	35438416	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagacgatgagcttgtgtaTaacattcacctggctgtcaa	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35438416T>A	ENST00000322203.6	+	6	570	c.543T>A	c.(541-543)taT>taA	p.Y181*	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	181					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						AGCTTGTGTATAACATTCACC	0.502													False	0	False	6:35438416	0	A	35438416	T	A	35438416	4	1	88	1	0	0	0	0	0	1	0	0	13634	1413	49	5	565	5	RPL10A	6	35438416	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44750	35438416	135676651	7098	14810											
TEAD3	7005	broad.mit.edu	37	chr6	35443205	35443205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgatcatgtactcgcAcatgggcgagcggtggatac	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35443205A>G	ENST00000338863.7	-	12	1329	c.1102T>C	c.(1102-1104)Tgc>Cgc	p.C368R	TEAD3_ENST00000402886.3_Missense_Mutation_p.C308R	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	368	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						ATGTACTCGCACATGGGCGAG	0.557													False	0	False	6:35443205	0	G	35443205	A	G	35443205	3	3	88	1	0	0	0	0	1	0	0	0	15822	159	6	4	213	4	TEAD3	6	35443205	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4789	35443205	135671862	7099	14811											
TULP1	7287	broad.mit.edu	37	chr6	35466170	35466170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcctgcagggcgcacagCgggtaccggtagtctagggt	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35466170C>T	ENST00000229771.6	-	15	1642	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	TULP1_ENST00000322263.4_Silent_p.P468P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	521					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCGCACAGCGGGTACCGGT	0.687													False	0	True	6:35466170	0	T	35466170	C	T	35466170	2	4	88	1	0	0	0	0	0	0	0	1	16857	755	27	1		1	TULP1	6	35466170	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22965	35466170	135648897	7100	14812											
FKBP5	2289	broad.mit.edu	37	chr6	35587999	35587999	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgcacagtaaatggcatatCtctcctttcttcatggtagc	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35587999C>T	ENST00000542713.1	-	4	460	c.303G>A	c.(301-303)gaG>gaA	p.E101E	FKBP5_ENST00000539068.1_Silent_p.E101E|FKBP5_ENST00000536438.1_Silent_p.E101E|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000357266.4_Silent_p.E101E	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	101	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AATGGCATATCTCTCCTTTCT	0.433													False	0	True	6:35587999	0	T	35587999	C	T	35587999	2	4	88	1	0	0	0	0	0	0	0	1	5951	912	32	2		2	FKBP5	6	35587999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121829	35587999	135527068	7101	14813											
LHFPL5	222662	broad.mit.edu	37	chr6	35773690	35773690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagctcatctgcaagggCggccccctagacttctcctc	9	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35773690C>T	ENST00000360215.1	+	1	620	c.243C>T	c.(241-243)ggC>ggT	p.G81G	LHFPL5_ENST00000373853.1_Silent_p.G81G	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	81						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTGCAAGGGCGGCCCCCTAG	0.572													False	0	True	6:35773690	0	T	35773690	C	T	35773690	2	4	88	1	0	0	0	0	0	0	0	1	8820	755	27	1		1	LHFPL5	6	35773690	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185691	35773690	135341377	7102	14814											
LHFPL5	222662	broad.mit.edu	37	chr6	35782385	35782385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactcaagtgaggtgcggCgcatgtgtggggagcagacg	20	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35782385C>T	ENST00000360215.1	+	2	852	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	LHFPL5_ENST00000373853.1_Missense_Mutation_p.R159C|LHFPL5_ENST00000496656.1_3'UTR	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	159						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TGAGGTGCGGCGCATGTGTGG	0.627													False	0	False	6:35782385	0	T	35782385	C	T	35782385	3	4	88	1	0	0	0	0	1	0	0	0	8820	768	27	1	481	1	LHFPL5	6	35782385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8695	35782385	135332682	7103	14815											
LHFPL5	222662	broad.mit.edu	37	chr6	35782423	35782423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggcaagtacacgctgggCcactgcaccatccgctgggc	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35782423C>T	ENST00000360215.1	+	2	890	c.513C>T	c.(511-513)ggC>ggT	p.G171G	LHFPL5_ENST00000373853.1_Silent_p.G171G|LHFPL5_ENST00000496656.1_3'UTR	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	171						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACACGCTGGGCCACTGCACCA	0.622													False	0	True	6:35782423	0	T	35782423	C	T	35782423	2	4	88	1	0	0	0	0	0	0	0	1	8820	726	26	2		2	LHFPL5	6	35782423	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	35782423	135332644	7104	14816											
SRPK1	6732	broad.mit.edu	37	chr6	35842022	35842022	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atacatacttgctgaataatTtttttgacacaaggcagtgg	8	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35842022T>G	ENST00000373825.2	-	7	858	c.573A>C	c.(571-573)aaA>aaC	p.K191N	SRPK1_ENST00000373821.2_5'UTR|SRPK1_ENST00000423325.2_Missense_Mutation_p.K175N|SRPK1_ENST00000373822.1_Missense_Mutation_p.K84N			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	191	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GCTGAATAATTTTTTTGACAC	0.353													False	0	True	6:35842022	0	G	35842022	T	G	35842022	3	3	88	1	0	0	0	0	1	0	0	0	15241	1838	64	4	1434	4	SRPK1	6	35842022	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59599	35842022	135273045	7105	14817											
SLC26A8	116369	broad.mit.edu	37	chr6	35927364	35927364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagaggcacctttaccataTcaacctgaaagacatgagag	8	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35927364T>C	ENST00000490799.1	-	16	2089	c.1736A>G	c.(1735-1737)gAt>gGt	p.D579G	SLC26A8_ENST00000394602.2_Missense_Mutation_p.D474G|SLC26A8_ENST00000355574.2_Missense_Mutation_p.D579G	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	579	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTTTACCATATCAACCTGAAA	0.453													False	0	False	6:35927364	0	C	35927364	T	C	35927364	3	2	88	1	0	0	0	0	1	0	0	0	14603	1435	50	4	1196	4	SLC26A8	6	35927364	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	85342	35927364	135187703	7106	14818											
SLC26A8	116369	broad.mit.edu	37	chr6	35967781	35967781	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaactcaccaatggacatttGatgacacgatccaaaaatta	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35967781G>A	ENST00000490799.1	-	4	786	c.433C>T	c.(433-435)Caa>Taa	p.Q145*	SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.Q145*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.Q145*	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	145					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ATGGACATTTGATGACACGAT	0.403													False	0	True	6:35967781	0	A	35967781	G	A	35967781	4	1	88	1	0	0	0	0	0	1	0	0	14603	1299	45	2	2547	2	SLC26A8	6	35967781	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40417	35967781	135147286	7107	14819											
BRPF3	27154	broad.mit.edu	37	chr6	36172526	36172526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgttgaagcggcaggcaCggaatggtgtccctcttatc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36172526C>T	ENST00000357641.6	+	3	1793	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	BRPF3_ENST00000543502.1_Missense_Mutation_p.R514W|BRPF3_ENST00000443324.2_Missense_Mutation_p.R514W|BRPF3_ENST00000534694.1_Missense_Mutation_p.R514W|BRPF3_ENST00000534400.1_Missense_Mutation_p.R514W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R514W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	514					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCGGCAGGCACGGAATGGTGT	0.512													False	0	True	6:36172526	0	T	36172526	C	T	36172526	3	4	88	1	0	0	0	0	1	0	0	0	1528	527	19	1	1546	1	BRPF3	6	36172526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204745	36172526	134942541	7108	14820											
BRPF3	27154	broad.mit.edu	37	chr6	36185695	36185695	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgtgtccttggcaggCatgaccaacggctttggaaa	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185695C>T	ENST00000357641.6	+	9	3244	c.2991C>T	c.(2989-2991)ggC>ggT	p.G997G	BRPF3_ENST00000543502.1_Splice_Site_p.G727G|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Splice_Site_p.G997G|BRPF3_ENST00000339717.7_Splice_Site_p.G727G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	997					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	p.G997G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCTTGGCAGGCATGACCAACG	0.537													False	0	True	6:36185695	0	T	36185695	C	T	36185695	5	4	88	1	0	0	0	0	0	0	1	0	1528	724	25	2	3021	2	BRPF3	6	36185695	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13169	36185695	134929372	7109	14821											
BRPF3	27154	broad.mit.edu	37	chr6	36185729	36185729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaaacacaccgaaagcGggtctgactctgaatgtagt	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185729G>A	ENST00000357641.6	+	9	3278	c.3025G>A	c.(3025-3027)Ggg>Agg	p.G1009R	BRPF3_ENST00000543502.1_Missense_Mutation_p.G739R|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.G1009R|BRPF3_ENST00000339717.7_Missense_Mutation_p.G739R	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1009					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	p.G1009W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CACCGAAAGCGGGTCTGACTC	0.512													False	0	True	6:36185729	0	A	36185729	G	A	36185729	3	1	88	1	0	0	0	0	1	0	0	0	1528	1116	39	1	3055	1	BRPF3	6	36185729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	36185729	134929338	7110	14822											
PNPLA1	285848	broad.mit.edu	37	chr6	36262089	36262089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgcccggccatcttccaCgacttccgcatgttcaactg	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36262089C>T	ENST00000394571.2	+	4	627	c.627C>T	c.(625-627)caC>caT	p.H209H	PNPLA1_ENST00000312917.5_Silent_p.H123H|PNPLA1_ENST00000388715.3_Silent_p.H114H	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	209					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCATCTTCCACGACTTCCGCA	0.622													False	0	False	6:36262089	0	T	36262089	C	T	36262089	2	4	88	1	0	0	0	0	0	0	0	1	12233	535	19	1		1	PNPLA1	6	36262089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76360	36262089	134852978	7111	14823											
C6orf222	389384	broad.mit.edu	37	chr6	36298366	36298366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcagggagagccaatgGcagtcccacgactccgagcc	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36298366G>A	ENST00000437635.2	-	2	279	c.102C>T	c.(100-102)tgC>tgT	p.C34C		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	34										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AGAGCCAATGGCAGTCCCACG	0.642													False	0	False	6:36298366	0	A	36298366	G	A	36298366	2	1	88	1	0	0	0	0	0	0	0	1	2373	1195	42	2		2	C6orf222	6	36298366	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36277	36298366	134816701	7112	14824											
ETV7	51513	broad.mit.edu	37	chr6	36336729	36336729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatttccccagagtctggCgagcccatttggatccacaa	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36336729C>T	ENST00000373738.1	-	5	1464	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	ETV7_ENST00000538992.1_Missense_Mutation_p.A111T|ETV7_ENST00000340181.4_Missense_Mutation_p.A262T|ETV7_ENST00000373737.4_Missense_Mutation_p.A185T|ETV7_ENST00000339796.5_Missense_Mutation_p.A262T	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	262					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CAGAGTCTGGCGAGCCCATTT	0.537													False	0	False	6:36336729	0	T	36336729	C	T	36336729	3	4	88	1	0	0	0	0	1	0	0	0	5316	768	27	1	253	1	ETV7	6	36336729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38363	36336729	134778338	7113	14825											
ETV7	51513	broad.mit.edu	37	chr6	36353333	36353333	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtcttcctggcagcttgcaGatccccccttcacccagcag	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36353333G>T	ENST00000373738.1	-	2	965	c.120C>A	c.(118-120)atC>atA	p.I40I	ETV7_ENST00000538992.1_Intron|ETV7_ENST00000340181.4_Silent_p.I40I|ETV7_ENST00000373737.4_Silent_p.I40I|ETV7_ENST00000339796.5_Silent_p.I40I	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	40	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GCAGCTTGCAGATCCCCCCTT	0.478													False	0	False	6:36353333	0	T	36353333	G	T	36353333	2	4	88	1	0	0	0	0	0	0	0	1	5316	932	33	3		3	ETV7	6	36353333	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16604	36353333	134761734	7114	14826											
CPNE5	57699	broad.mit.edu	37	chr6	36710162	36710162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtgccttcatgtaggaCaccagttggtcagggatctc	11	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36710162C>T	ENST00000244751.2	-	21	2289	c.1665G>A	c.(1663-1665)gtG>gtA	p.V555V	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Silent_p.V263V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	555										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCATGTAGGACACCAGTTGGT	0.687													False	0	False	6:36710162	0	T	36710162	C	T	36710162	2	4	88	1	0	0	0	0	0	0	0	1	3838	465	17	2		2	CPNE5	6	36710162	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356829	36710162	134404905	7115	14827											
CPNE5	57699	broad.mit.edu	37	chr6	36714294	36714294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacggcagtcagcgccagcGcgtaggcgttcagctggtag	16	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36714294G>A	ENST00000244751.2	-	16	1703	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.A68V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	360	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGCGCCAGCGCGTAGGCGTT	0.612													False	0	False	6:36714294	0	A	36714294	G	A	36714294	3	1	88	1	0	0	0	0	1	0	0	0	3838	1087	38	1	726	1	CPNE5	6	36714294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4132	36714294	134400773	7116	14828											
CPNE5	57699	broad.mit.edu	37	chr6	36742762	36742762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtagtcgccgttgcagaggGctctcacgggaatggagaaa	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36742762G>T	ENST00000244751.2	-	10	1337	c.713C>A	c.(712-714)gCc>gAc	p.A238D		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	238	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTTGCAGAGGGCTCTCACGGG	0.522													False	0	True	6:36742762	0	T	36742762	G	T	36742762	3	4	88	1	0	0	0	0	1	0	0	0	3838	1203	42	3	1116	3	CPNE5	6	36742762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28468	36742762	134372305	7117	14829											
PPIL1	51645	broad.mit.edu	37	chr6	36824411	36824411	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttcaaactgtttgccataGatagatgcaccacctcgacc	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36824411G>A	ENST00000373699.5	-	3	482	c.231C>T	c.(229-231)atC>atT	p.I77I	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	77	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						GTTTGCCATAGATAGATGCAC	0.458													False	0	True	6:36824411	0	A	36824411	G	A	36824411	2	1	88	1	0	0	0	0	0	0	0	1	12400	932	33	2		2	PPIL1	6	36824411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81649	36824411	134290656	7118	14830											
FGD2	221472	broad.mit.edu	37	chr6	36982780	36982780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctcaagatctccttccGccgcaacgaccccatggagc	9	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36982780G>A	ENST00000274963.8	+	8	1166	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	332	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ATCTCCTTCCGCCGCAACGAC	0.632													False	0	False	6:36982780	0	A	36982780	G	A	36982780	3	1	88	1	0	0	0	0	1	0	0	0	5873	1087	38	1	1025	1	FGD2	6	36982780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158369	36982780	134132287	7119	14831											
RNF8	9025	broad.mit.edu	37	chr6	37336474	37336474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaataaggaattgagaaCtaaaaggaaattcagtttgg	9	2	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37336474C>T	ENST00000373479.4	+	3	648	c.455C>T	c.(454-456)aCt>aTt	p.T152I	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.T152I	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	152					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAATTGAGAACTAAAAGGAAA	0.358													False	0	False	6:37336474	0	T	37336474	C	T	37336474	3	4	88	1	0	0	0	0	1	0	0	0	13579	565	20	2	465	2	RNF8	6	37336474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353694	37336474	133778593	7120	14832											
RNF8	9025	broad.mit.edu	37	chr6	37348968	37348968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtttctgctcctactgtAtcaatgaatggatgaagcgg	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37348968A>G	ENST00000373479.4	+	7	1472	c.1279A>G	c.(1279-1281)Atc>Gtc	p.I427V	RNF8_ENST00000469731.1_Intron	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	427					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CTCCTACTGTATCAATGAATG	0.423													False	0	False	6:37348968	0	G	37348968	A	G	37348968	3	3	88	1	0	0	0	0	1	0	0	0	13579	449	16	4	1305	4	RNF8	6	37348968	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12494	37348968	133766099	7121	14833											
MDGA1	266727	broad.mit.edu	37	chr6	37605152	37605152	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagctctcatcatctctGcaacgccaagaggaagatgg	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37605152G>A	ENST00000297153.7	-	18	4050	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*	MDGA1_ENST00000434837.3_Nonsense_Mutation_p.Q954*			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	954					brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CATCATCTCTGCAACGCCAAG	0.637													False	0	False	6:37605152	0	A	37605152	G	A	37605152	4	1	88	1	0	0	0	0	0	1	0	0	9473	1328	46	2	11	2	MDGA1	6	37605152	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256184	37605152	133509915	7122	14834											
MDGA1	266727	broad.mit.edu	37	chr6	37619936	37619936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcagctcaggatcattgCgggtcaccagcagccgcttg	14	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37619936C>T	ENST00000297153.7	-	7	2341	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	MDGA1_ENST00000505425.1_Missense_Mutation_p.R388H|MDGA1_ENST00000434837.3_Missense_Mutation_p.R388H			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	388	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AGGATCATTGCGGGTCACCAG	0.587													False	0	True	6:37619936	0	T	37619936	C	T	37619936	3	4	88	1	0	0	0	0	1	0	0	0	9473	768	27	1	1748	1	MDGA1	6	37619936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14784	37619936	133495131	7123	14835											
BTBD9	114781	broad.mit.edu	37	chr6	38312855	38312855	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtgttgtgagtcccaAcaattcgaatatacctgacg	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38312855A>C	ENST00000481247.1	-	7	1320	c.1169T>G	c.(1168-1170)gTt>gGt	p.V390G	BTBD9_ENST00000314100.6_Missense_Mutation_p.V322G|BTBD9_ENST00000408958.1_Missense_Mutation_p.V322G|BTBD9_ENST00000419706.2_Missense_Mutation_p.V360G|BTBD9_ENST00000403056.1_Missense_Mutation_p.V390G	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	390					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GTGAGTCCCAACAATTCGAAT	0.388													False	0	False	6:38312855	0	C	38312855	A	C	38312855	3	2	88	1	0	0	0	0	1	0	0	0	1555	43	2	4	689	4	BTBD9	6	38312855	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	692919	38312855	132802212	7124	14836											
GLO1	2739	broad.mit.edu	37	chr6	38645126	38645126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaatccagtagccatcaGgatcttgaataaatgccagg	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38645126G>A	ENST00000373365.4	-	6	586	c.500C>T	c.(499-501)cCt>cTt	p.P167L	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	167					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	GTAGCCATCAGGATCTTGAAT	0.303													False	0	False	6:38645126	0	A	38645126	G	A	38645126	3	1	88	1	0	0	0	0	1	0	0	0	6494	1000	35	2	58	2	GLO1	6	38645126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	332271	38645126	132469941	7125	14837											
DNAH8	1769	broad.mit.edu	37	chr6	38691111	38691111	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacttggttttcattccttAggcaagatttagagaggcaa	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38691111A>G	ENST00000359357.3	+	2	78		c.e2-1		DNAH8_ENST00000449981.2_Splice_Site					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCATTCCTTAGGCAAGATTT	0.313													False	0	False	6:38691111	0	G	38691111	A	G	38691111	5	3	88	1	0	0	0	0	0	0	1	0	4637	434	15	4		4	DNAH8	6	38691111	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45985	38691111	132423956	7126	14838											
DNAH8	1769	broad.mit.edu	37	chr6	38743659	38743659	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaaaaagcaatatgacattCtggatccaagaaggacagaa	9	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38743659C>A	ENST00000359357.3	+	11	1497	c.1243C>A	c.(1243-1245)Ctg>Atg	p.L415M	DNAH8_ENST00000441566.1_Missense_Mutation_p.L415M|DNAH8_ENST00000449981.2_Missense_Mutation_p.L632M					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATGACATTCTGGATCCAAG	0.294													False	0	False	6:38743659	0	A	38743659	C	A	38743659	3	1	88	1	0	0	0	0	1	0	0	0	4637	912	32	3	1277	3	DNAH8	6	38743659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52548	38743659	132371408	7127	14839											
DNAH8	1769	broad.mit.edu	37	chr6	38783391	38783391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccccaccactactgacGtgacccatcaaaacacagga	6	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38783391G>A	ENST00000359357.3	+	24	3084	c.2830G>A	c.(2830-2832)Gtg>Atg	p.V944M	DNAH8_ENST00000441566.1_Missense_Mutation_p.V944M|DNAH8_ENST00000449981.2_Missense_Mutation_p.V1161M					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTACTGACGTGACCCATCA	0.453													False	0	False	6:38783391	0	A	38783391	G	A	38783391	3	1	88	1	0	0	0	0	1	0	0	0	4637	1145	40	1	2916	1	DNAH8	6	38783391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39732	38783391	132331676	7128	14840											
DNAH8	1769	broad.mit.edu	37	chr6	38790628	38790628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggatcttttgaagaaGctattcctgcgaggaagctg	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38790628G>A	ENST00000359357.3	+	25	3141	c.2887G>A	c.(2887-2889)Gct>Act	p.A963T	DNAH8_ENST00000441566.1_Missense_Mutation_p.A963T|DNAH8_ENST00000449981.2_Missense_Mutation_p.A1180T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTTGAAGAAGCTATTCCTGC	0.343													False	0	False	6:38790628	0	A	38790628	G	A	38790628	3	1	88	1	0	0	0	0	1	0	0	0	4637	971	34	2	2977	2	DNAH8	6	38790628	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7237	38790628	132324439	7129	14841											
DNAH8	1769	broad.mit.edu	37	chr6	38834380	38834380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttagaaccctggatatgCtgggcgccaggaactaccag	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38834380C>T	ENST00000359357.3	+	44	6115	c.5861C>T	c.(5860-5862)gCt>gTt	p.A1954V	DNAH8_ENST00000441566.1_Missense_Mutation_p.A1954V|DNAH8_ENST00000449981.2_Missense_Mutation_p.A2171V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTGGATATGCTGGGCGCCAG	0.318													False	0	False	6:38834380	0	T	38834380	C	T	38834380	3	4	88	1	0	0	0	0	1	0	0	0	4637	797	28	2	6027	2	DNAH8	6	38834380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43752	38834380	132280687	7130	14842											
DNAH8	1769	broad.mit.edu	37	chr6	38840488	38840488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgtttggcagactggaCactgctaccaatgactggac	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38840488C>T	ENST00000359357.3	+	48	6770	c.6516C>T	c.(6514-6516)gaC>gaT	p.D2172D	DNAH8_ENST00000441566.1_Silent_p.D2136D|DNAH8_ENST00000449981.2_Silent_p.D2389D					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAGACTGGACACTGCTACCA	0.408													False	0	False	6:38840488	0	T	38840488	C	T	38840488	2	4	88	1	0	0	0	0	0	0	0	1	4637	477	17	2		2	DNAH8	6	38840488	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6108	38840488	132274579	7131	14843											
DNAH8	1769	broad.mit.edu	37	chr6	38890961	38890961	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcaaagctcagattaataGgtgggaatctgggtcttctt	10	6	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38890961G>T	ENST00000359357.3	+	70	10393	c.10139G>T	c.(10138-10140)aGa>aTa	p.R3380I	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Splice_Site_p.R3344I|DNAH8_ENST00000449981.2_Splice_Site_p.R3597I|RP1-207H1.3_ENST00000418399.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGATTAATAGGTGGGAATCT	0.428													False	0	False	6:38890961	0	T	38890961	G	T	38890961	5	4	88	1	0	0	0	0	0	0	1	0	4637	1014	35	3	10409	3	DNAH8	6	38890961	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50473	38890961	132224106	7132	14844											
GLP1R	2740	broad.mit.edu	37	chr6	39034062	39034062	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctctggttatcgcctctgcGatcctcctcggcttcaggta	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39034062G>A	ENST00000373256.4	+	5	535	c.492G>A	c.(490-492)gcG>gcA	p.A164A		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	164					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TCGCCTCTGCGATCCTCCTCG	0.587													False	0	False	6:39034062	0	A	39034062	G	A	39034062	2	1	88	1	0	0	0	0	0	0	0	1	6497	1045	37	1		1	GLP1R	6	39034062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143101	39034062	132081005	7133	14845											
KCNK5	8645	broad.mit.edu	37	chr6	39159266	39159266	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgatgaggtcgttgtaGgtctcttccttcttggaaag	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39159266G>T	ENST00000359534.3	-	5	1238	c.900C>A	c.(898-900)acC>acA	p.T300T		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	300					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGTCGTTGTAGGTCTCTTCCT	0.617													False	0	False	6:39159266	0	T	39159266	G	T	39159266	2	4	88	1	0	0	0	0	0	0	0	1	8119	987	35	3		3	KCNK5	6	39159266	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125204	39159266	131955801	7134	14846											
KIF6	221458	broad.mit.edu	37	chr6	39328261	39328261	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagcagctgcaagtgctcGatctccaccttcagggcttt	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39328261G>A	ENST00000287152.7	-	18	2086	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	KIF6_ENST00000394362.1_Silent_p.I115I|KIF6_ENST00000538893.1_Silent_p.I608I|KIF6_ENST00000229913.5_Silent_p.I115I|KIF6_ENST00000541946.1_Silent_p.I115I|KIF6_ENST00000373216.3_Silent_p.I664I|KIF6_ENST00000373213.4_Silent_p.I503I|KIF6_ENST00000373215.3_Silent_p.I647I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	664					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCAAGTGCTCGATCTCCACCT	0.542													False	0	False	6:39328261	0	A	39328261	G	A	39328261	2	1	88	1	0	0	0	0	0	0	0	1	8358	1048	37	1		1	KIF6	6	39328261	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168995	39328261	131786806	7135	14847											
KIF6	221458	broad.mit.edu	37	chr6	39353422	39353422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctacttgctgtatatgccGctgggtgatttcttccttca	10	10	2	1	rs139112928		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39353422G>A	ENST00000287152.7	-	16	1931	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	KIF6_ENST00000394362.1_Missense_Mutation_p.R64W|KIF6_ENST00000538893.1_Missense_Mutation_p.R557W|KIF6_ENST00000229913.5_Missense_Mutation_p.R64W|KIF6_ENST00000541946.1_Missense_Mutation_p.R64W|KIF6_ENST00000373216.3_Missense_Mutation_p.R613W|KIF6_ENST00000373213.4_Missense_Mutation_p.R452W|KIF6_ENST00000373215.3_Intron	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	613					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.R613W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTATATGCCGCTGGGTGATT	0.468													False	0	False	6:39353422	0	A	39353422	G	A	39353422	3	1	88	1	0	0	0	0	1	0	0	0	8358	1086	38	1	639	1	KIF6	6	39353422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25161	39353422	131761645	7136	14848											
DAAM2	23500	broad.mit.edu	37	chr6	39851741	39851741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaccctgaattttaggagCgtgtccctggcaccgtatgg	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39851741C>T	ENST00000538976.1	+	15	2031	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	RP11-61I13.3_ENST00000607215.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.R617C|DAAM2_ENST00000274867.4_Missense_Mutation_p.R617C|RP11-61I13.3_ENST00000607675.1_RNA	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	617	FH2.		R -> H (in dbSNP:rs34699846).		actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATTTTAGGAGCGTGTCCCTGG	0.493													False	0	False	6:39851741	0	T	39851741	C	T	39851741	3	4	88	1	0	0	0	0	1	0	0	0	4241	768	27	1	1903	1	DAAM2	6	39851741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	498319	39851741	131263326	7137	14849											
DAAM2	23500	broad.mit.edu	37	chr6	39855321	39855321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaggtcaaagagctgtcGgtcattgatggccggagggc	16	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39855321G>A	ENST00000538976.1	+	16	2195	c.2013G>A	c.(2011-2013)tcG>tcA	p.S671S	DAAM2_ENST00000398904.2_Silent_p.S671S|DAAM2_ENST00000274867.4_Silent_p.S671S|RP11-61I13.3_ENST00000607675.1_RNA	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	671	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AAGAGCTGTCGGTCATTGATG	0.532													False	0	False	6:39855321	0	A	39855321	G	A	39855321	2	1	88	1	0	0	0	0	0	0	0	1	4241	1103	39	1		1	DAAM2	6	39855321	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3580	39855321	131259746	7138	14850											
DAAM2	23500	broad.mit.edu	37	chr6	39864744	39864744	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caagatcgctgacaccaagtCcagcatcgacaggtgaggac	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39864744C>A	ENST00000538976.1	+	20	2680	c.2498C>A	c.(2497-2499)tCc>tAc	p.S833Y	RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.S833Y|DAAM2_ENST00000274867.4_Missense_Mutation_p.S833Y|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	833	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACACCAAGTCCAGCATCGAC	0.592													False	0	False	6:39864744	0	A	39864744	C	A	39864744	3	1	88	1	0	0	0	0	1	0	0	0	4241	855	30	3	2572	3	DAAM2	6	39864744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9423	39864744	131250323	7139	14851											
DAAM2	23500	broad.mit.edu	37	chr6	39869088	39869088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttgacagttcgccaaggCcttgatgcacttcggggagc	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39869088C>T	ENST00000538976.1	+	24	3001	c.2819C>T	c.(2818-2820)gCc>gTc	p.A940V	DAAM2_ENST00000398904.2_Missense_Mutation_p.A941V|DAAM2_ENST00000274867.4_Missense_Mutation_p.A941V	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	941	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTCGCCAAGGCCTTGATGCAC	0.562													False	0	False	6:39869088	0	T	39869088	C	T	39869088	3	4	88	1	0	0	0	0	1	0	0	0	4241	739	26	2	2909	2	DAAM2	6	39869088	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4344	39869088	131245979	7140	14852											
MOCS1	4337	broad.mit.edu	37	chr6	39877623	39877623	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccacagcagccccaatgattCtcagcagctcctgctcagag	8	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39877623C>A	ENST00000373186.4	-	8	1195	c.1058G>T	c.(1057-1059)aGa>aTa	p.R353I	MOCS1_ENST00000373188.2_Missense_Mutation_p.R353I|MOCS1_ENST00000373195.3_Missense_Mutation_p.R266I|MOCS1_ENST00000432280.2_Missense_Mutation_p.R324I|MOCS1_ENST00000340692.5_Missense_Mutation_p.R353I|MOCS1_ENST00000308559.7_Missense_Mutation_p.R353I|MOCS1_ENST00000425303.2_Missense_Mutation_p.R353I|MOCS1_ENST00000373175.4_Missense_Mutation_p.R324I	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	353	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCAATGATTCTCAGCAGCTC	0.602													False	0	False	6:39877623	0	A	39877623	C	A	39877623	3	1	88	1	0	0	0	0	1	0	0	0	9757	913	32	3	107	3	MOCS1	6	39877623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8535	39877623	131237444	7141	14853											
LRFN2	57497	broad.mit.edu	37	chr6	40400136	40400136	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaagtgggttacccccAaaactaaaggacaagggtgg	13	8	0	1	rs140321591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40400136A>T	ENST00000338305.6	-	2	1259	c.717T>A	c.(715-717)ttT>ttA	p.F239L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	239						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGTTACCCCCAAAACTAAAGG	0.607													False	0	True	6:40400136	0	T	40400136	A	T	40400136	3	4	88	1	0	0	0	0	1	0	0	0	9000	127	5	5	1660	5	LRFN2	6	40400136	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	522513	40400136	130714931	7142	14854											
UNC5CL	222643	broad.mit.edu	37	chr6	40996163	40996163	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatcccgggcgcccccgcgCtcggggcctgggctgccgcc	15	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40996163C>A	ENST00000244565.3	-	9	1594	c.1506G>T	c.(1504-1506)gaG>gaT	p.E502D	UNC5CL_ENST00000373164.1_Missense_Mutation_p.E502D|UNC5CL_ENST00000470102.1_5'UTR	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	502					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGCCCCCGCGCTCGGGGCCTG	0.687											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	6:40996163	0	A	40996163	C	A	40996163	3	1	88	1	0	0	0	0	1	0	0	0	17078	796	28	3	54	3	UNC5CL	6	40996163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	596027	40996163	130118904	7143	14855											
UNC5CL	222643	broad.mit.edu	37	chr6	40998490	40998490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccatatacttggtctccAagccctgagtcaacacaggg	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40998490A>G	ENST00000244565.3	-	7	1212	c.1124T>C	c.(1123-1125)tTg>tCg	p.L375S	UNC5CL_ENST00000373164.1_Missense_Mutation_p.L375S|UNC5CL_ENST00000470102.1_5'UTR	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	375	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTGGTCTCCAAGCCCTGAGT	0.552													False	0	False	6:40998490	0	G	40998490	A	G	40998490	3	3	88	1	0	0	0	0	1	0	0	0	17078	131	5	4	444	4	UNC5CL	6	40998490	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2327	40998490	130116577	7144	14856											
UNC5CL	222643	broad.mit.edu	37	chr6	41002657	41002657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggggggtaggctgggacaCtggttcctcttgaccattca	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41002657C>T	ENST00000244565.3	-	2	245	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	UNC5CL_ENST00000373164.1_Missense_Mutation_p.V53M	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	53					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGGGACACTGGTTCCTCT	0.587													False	0	False	6:41002657	0	T	41002657	C	T	41002657	3	4	88	1	0	0	0	0	1	0	0	0	17078	565	20	2	1431	2	UNC5CL	6	41002657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4167	41002657	130112410	7145	14857											
TREML2	79865	broad.mit.edu	37	chr6	41166116	41166116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagcactgcacagacagaGtctccccttcaaggagcctc	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41166116G>T	ENST00000483722.1	-	2	292	c.107C>A	c.(106-108)aCt>aAt	p.T36N		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	36	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACAGACAGAGTCTCCCCTTC	0.502													False	0	True	6:41166116	0	T	41166116	G	T	41166116	3	4	88	1	0	0	0	0	1	0	0	0	16556	1029	36	3	874	3	TREML2	6	41166116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163459	41166116	129948951	7146	14858											
TREML4	285852	broad.mit.edu	37	chr6	41196470	41196470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtgctgtgcctgaagaaCttcacaaacacccaggacag	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41196470C>T	ENST00000341495.2	+	2	186	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	TREML4_ENST00000448827.2_Missense_Mutation_p.L28F	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	28	Ig-like V-type.					extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCCTGAAGAACTTCACAAACA	0.572													False	0	False	6:41196470	0	T	41196470	C	T	41196470	3	4	88	1	0	0	0	0	1	0	0	0	16557	565	20	2	88	2	TREML4	6	41196470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30354	41196470	129918597	7147	14859											
MDFI	4188	broad.mit.edu	37	chr6	41621208	41621208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggcgagtgtgccgactgCgacctgccctgcgacctgga	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41621208C>T	ENST00000373050.4	+	4	640	c.453C>T	c.(451-453)tgC>tgT	p.C151C				Q99750	MDFI_HUMAN	MyoD family inhibitor	212					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GTGCCGACTGCGACCTGCCCT	0.652													False	0	False	6:41621208	0	T	41621208	C	T	41621208	2	4	88	1	0	0	0	0	0	0	0	1	9471	776	27	1		1	MDFI	6	41621208	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	424738	41621208	129493859	7148	14860											
PGC	5225	broad.mit.edu	37	chr6	41712141	41712141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccagcactcactgcaggCctggctctggcagtagacag	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41712141C>T	ENST00000373025.3	-	3	384	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	PGC_ENST00000425343.2_Missense_Mutation_p.A108T	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	108					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	p.A108T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCACTGCAGGCCTGGCTCTGG	0.612													False	0	False	6:41712141	0	T	41712141	C	T	41712141	3	4	88	1	0	0	0	0	1	0	0	0	11854	739	26	2	1181	2	PGC	6	41712141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90933	41712141	129402926	7149	14861											
FRS3	10817	broad.mit.edu	37	chr6	41738730	41738730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtgggcttctgcagtGgggtctcgtcctcctcacca	13	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41738730G>A	ENST00000373018.3	-	7	1357	c.1106C>T	c.(1105-1107)cCa>cTa	p.P369L	FRS3_ENST00000259748.2_Missense_Mutation_p.P369L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	369					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGCAGTGGGGTCTCGTC	0.667													False	0	True	6:41738730	0	A	41738730	G	A	41738730	3	1	88	1	0	0	0	0	1	0	0	0	6104	1348	47	2	376	2	FRS3	6	41738730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26589	41738730	129376337	7150	14862											
PRICKLE4	29964	broad.mit.edu	37	chr6	41753969	41753969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggcgggggacgttatgCcctgcctgggggaagcccct	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41753969C>T	ENST00000359201.5	+	6	1275	c.686C>T	c.(685-687)gCc>gTc	p.A229V	PRICKLE4_ENST00000394263.1_Missense_Mutation_p.A229V|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.A189V|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.A189V|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.A229V			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	189						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGACGTTATGCCCTGCCTGGG	0.672													False	0	True	6:41753969	0	T	41753969	C	T	41753969	3	4	88	1	0	0	0	0	1	0	0	0	12565	739	26	2	704	2	PRICKLE4	6	41753969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15239	41753969	129361098	7151	14863											
USP49	25862	broad.mit.edu	37	chr6	41774184	41774184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgcctcctccttcttgcGctccagggcctcctcctgcc	8	22	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41774184G>A	ENST00000394253.3	-	3	867	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	USP49_ENST00000373009.3_Missense_Mutation_p.R180C|USP49_ENST00000373010.1_Missense_Mutation_p.R180C|USP49_ENST00000297229.2_Missense_Mutation_p.R180C|USP49_ENST00000373006.1_Missense_Mutation_p.R180C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	180					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTTCTTGCGCTCCAGGGCC	0.726													False	0	False	6:41774184	0	A	41774184	G	A	41774184	3	1	88	1	0	0	0	0	1	0	0	0	17164	1087	38	1	1400	1	USP49	6	41774184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20215	41774184	129340883	7152	14864											
USP49	25862	broad.mit.edu	37	chr6	41774276	41774276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgtcctggccagcaggCgctgacgccggtaccacaga	14	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41774276C>T	ENST00000394253.3	-	3	775	c.446G>A	c.(445-447)cGc>cAc	p.R149H	USP49_ENST00000373009.3_Missense_Mutation_p.R149H|USP49_ENST00000373010.1_Missense_Mutation_p.R149H|USP49_ENST00000297229.2_Missense_Mutation_p.R149H|USP49_ENST00000373006.1_Missense_Mutation_p.R149H			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	149					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCAGCAGGCGCTGACGCCG	0.701													False	0	False	6:41774276	0	T	41774276	C	T	41774276	3	4	88	1	0	0	0	0	1	0	0	0	17164	768	27	1	1492	1	USP49	6	41774276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	41774276	129340791	7153	14865											
MED20	9477	broad.mit.edu	37	chr6	41874828	41874828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactaacgaatcccagccacCggcacctgctgctgcttgcg	9	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41874828C>T	ENST00000265350.4	-	4	701	c.621G>A	c.(619-621)ccG>ccA	p.P207P	MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409312.1_3'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	207				Missing (in Ref. 1; AAD16169).	regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCCAGCCACCGGCACCTGCT	0.572													False	0	False	6:41874828	0	T	41874828	C	T	41874828	2	4	88	1	0	0	0	0	0	0	0	1	9505	639	23	1		1	MED20	6	41874828	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100552	41874828	129240239	7154	14866											
BYSL	705	broad.mit.edu	37	chr6	41895197	41895197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacaatgacagcagcgggCcatcatgcagaggtggttgt	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41895197C>T	ENST00000230340.4	+	2	729	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	118					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGCAGCGGGCCATCATGCAG	0.562													False	0	True	6:41895197	0	T	41895197	C	T	41895197	2	4	88	1	0	0	0	0	0	0	0	1	1583	726	26	2		2	BYSL	6	41895197	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20369	41895197	129219870	7155	14867											
CCND3	896	broad.mit.edu	37	chr6	41908275	41908275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtagcgatccaggtagtTcatggccagggggaagactt	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41908275T>G	ENST00000511642.1	-	2	755	c.4A>C	c.(4-6)Aac>Cac	p.N2H	CCND3_ENST00000372988.4_Missense_Mutation_p.N2H|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000510503.1_Missense_Mutation_p.N2H|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372987.4_Missense_Mutation_p.N33H|CCND3_ENST00000372991.4_Missense_Mutation_p.N83H			P30281	CCND3_HUMAN	cyclin D3	83					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCAGGTAGTTCATGGCCAGG	0.637			T	IGH@	MM								False	0	False	6:41908275	0	G	41908275	T	G	41908275	3	3	88	1	0	0	0	0	1	0	0	0	2941	1783	62	4	647	4	CCND3	6	41908275	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13078	41908275	129206792	7156	14868											
GUCA1A	2978	broad.mit.edu	37	chr6	42146144	42146144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaacggctgcattgaccgcGatgagctgctcaccatcatc	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42146144G>A	ENST00000394237.1	+	4	1304	c.328G>A	c.(328-330)Gat>Aat	p.D110N	GUCA1A_ENST00000053469.4_Missense_Mutation_p.D110N|GUCA1A_ENST00000372958.1_Missense_Mutation_p.D110N|GUCA1A_ENST00000541991.1_Missense_Mutation_p.D110N			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	110	EF-hand 3.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATTGACCGCGATGAGCTGCT	0.617													False	0	False	6:42146144	0	A	42146144	G	A	42146144	3	1	88	1	0	0	0	0	1	0	0	0	6935	1058	37	1	334	1	GUCA1A	6	42146144	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237869	42146144	128968923	7157	14869											
TRERF1	55809	broad.mit.edu	37	chr6	42196122	42196122	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcaagactgaatcttgAtcatccaagagaagatcggt	10	7	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42196122A>C	ENST00000541110.1	-	18	4192	c.3624T>G	c.(3622-3624)gaT>gaG	p.D1208E	TRERF1_ENST00000354325.2_Missense_Mutation_p.D1105E|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1117E|TRERF1_ENST00000372922.4_Missense_Mutation_p.D1188E|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1117E			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1188					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGAATCTTGATCATCCAAGA	0.498													False	0	False	6:42196122	0	C	42196122	A	C	42196122	3	2	88	1	0	0	0	0	1	0	0	0	16558	330	12	4	42	4	TRERF1	6	42196122	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49978	42196122	128918945	7158	14870											
TRERF1	55809	broad.mit.edu	37	chr6	42196272	42196272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagccccggcgcccccacGggccccgtagtcctctcaat	10	20	1	0	rs150908395		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42196272G>A	ENST00000541110.1	-	18	4042	c.3474C>T	c.(3472-3474)ccC>ccT	p.P1158P	TRERF1_ENST00000354325.2_Silent_p.P1055P|TRERF1_ENST00000340840.2_Silent_p.P1067P|TRERF1_ENST00000372922.4_Silent_p.P1138P|TRERF1_ENST00000372917.4_Silent_p.P1067P			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1138	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P1138P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGCCCCCACGGGCCCCGTAG	0.602													False	0	True	6:42196272	0	A	42196272	G	A	42196272	2	1	88	1	0	0	0	0	0	0	0	1	16558	1103	39	1		1	TRERF1	6	42196272	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150	42196272	128918795	7159	14871											
TRERF1	55809	broad.mit.edu	37	chr6	42231107	42231107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggctggcttgtctctgGcggagggggcggcaacggtg	20	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42231107G>A	ENST00000541110.1	-	8	2403	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372922.4_Missense_Mutation_p.A612V|TRERF1_ENST00000372917.4_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	612	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTGTCTCTGGCGGAGGGGGC	0.657													False	0	False	6:42231107	0	A	42231107	G	A	42231107	3	1	88	1	0	0	0	0	1	0	0	0	16558	1203	42	2	1811	2	TRERF1	6	42231107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34835	42231107	128883960	7160	14872											
UBR2	23304	broad.mit.edu	37	chr6	42613320	42613320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaattggtaaagtctttaCctgaagatgtaagtacctac	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42613320C>T	ENST00000372901.1	+	21	2659	c.2401C>T	c.(2401-2403)Cct>Tct	p.P801S	UBR2_ENST00000372883.3_Missense_Mutation_p.P305S|UBR2_ENST00000372899.1_Missense_Mutation_p.P801S			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	801					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAGTCTTTACCTGAAGATGT	0.363													False	0	False	6:42613320	0	T	42613320	C	T	42613320	3	4	88	1	0	0	0	0	1	0	0	0	16986	507	18	2	2629	2	UBR2	6	42613320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	382213	42613320	128501747	7161	14873											
UBR2	23304	broad.mit.edu	37	chr6	42652582	42652582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccagaggattacagcaGcctcattaatcaagcatcca	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42652582G>A	ENST00000372901.1	+	44	5084	c.4826G>A	c.(4825-4827)aGc>aAc	p.S1609N	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Missense_Mutation_p.S1609N			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1609					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GATTACAGCAGCCTCATTAAT	0.333													False	0	False	6:42652582	0	A	42652582	G	A	42652582	3	1	88	1	0	0	0	0	1	0	0	0	16986	971	34	2	5146	2	UBR2	6	42652582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39262	42652582	128462485	7162	14874											
UBR2	23304	broad.mit.edu	37	chr6	42656018	42656018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccttgtgtgcggatctctgCtgtgctcccagagttactgc	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42656018C>A	ENST00000372901.1	+	45	5176	c.4918C>A	c.(4918-4920)Ctg>Atg	p.L1640M	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Missense_Mutation_p.L1640M			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1640					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CGGATCTCTGCTGTGCTCCCA	0.537													False	0	False	6:42656018	0	A	42656018	C	A	42656018	3	1	88	1	0	0	0	0	1	0	0	0	16986	796	28	3	5242	3	UBR2	6	42656018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3436	42656018	128459049	7163	14875											
UBR2	23304	broad.mit.edu	37	chr6	42658801	42658801	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttacatttatgcaaagagCgattcaagaagattcagaag	8	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42658801C>T	ENST00000372901.1	+	47	5416	c.5158C>T	c.(5158-5160)Cga>Tga	p.R1720*	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Nonsense_Mutation_p.R1720*			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1720					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGCAAAGAGCGATTCAAGAA	0.438													False	0	False	6:42658801	0	T	42658801	C	T	42658801	4	4	88	1	0	0	0	0	0	1	0	0	16986	760	27	1	5490	1	UBR2	6	42658801	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2783	42658801	128456266	7164	14876											
PRPH2	5961	broad.mit.edu	37	chr6	42666183	42666183	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctctcgctctcagattcCtcggggttggacacaccatc	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42666183C>T	ENST00000230381.5	-	3	1130	c.891G>A	c.(889-891)gaG>gaA	p.E297E		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	297					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TCTCAGATTCCTCGGGGTTGG	0.592													False	0	False	6:42666183	0	T	42666183	C	T	42666183	2	4	88	1	0	0	0	0	0	0	0	1	12653	680	24	2		2	PRPH2	6	42666183	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7382	42666183	128448884	7165	14877											
TBCC	6903	broad.mit.edu	37	chr6	42713042	42713042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgcggagctgttggcagGccactgccagcacgcagtca	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42713042G>A	ENST00000244625.2	-	2	1333	c.770C>T	c.(769-771)gCc>gTc	p.A257V	TBCC_ENST00000372876.1_Missense_Mutation_p.A257V			Q15814	TBCC_HUMAN	tubulin folding cofactor C	257	C-CAP/cofactor C-like.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CTGTTGGCAGGCCACTGCCAG	0.612													False	0	False	6:42713042	0	A	42713042	G	A	42713042	3	1	88	1	0	0	0	0	1	0	0	0	15713	1203	42	2	274	2	TBCC	6	42713042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46859	42713042	128402025	7166	14878											
PTCRA	171558	broad.mit.edu	37	chr6	42890844	42890844	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagcagcagatggtggtggtCtgcctggtccttgatgttgc	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42890844C>T	ENST00000304672.1	+	2	219	c.138C>T	c.(136-138)gtC>gtT	p.V46V	PTCRA_ENST00000441198.1_Intron|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	46						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGGTGGTGGTCTGCCTGGTCC	0.597													False	0	True	6:42890844	0	T	42890844	C	T	42890844	2	4	88	1	0	0	0	0	0	0	0	1	12811	900	32	2		2	PTCRA	6	42890844	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177802	42890844	128224223	7167	14879											
PEX6	5190	broad.mit.edu	37	chr6	42933437	42933437	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acctgtccatcactcctccaGaatctccacttcgcccccgg	5	20	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42933437G>T	ENST00000304611.8	-	13	2522	c.2453C>A	c.(2452-2454)tCt>tAt	p.S818Y	PEX6_ENST00000244546.4_Missense_Mutation_p.L736M	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	818					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CACTCCTCCAGAATCTCCACT	0.547													False	0	False	6:42933437	0	T	42933437	G	T	42933437	3	4	88	1	0	0	0	0	1	0	0	0	11819	942	33	3	509	3	PEX6	6	42933437	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42593	42933437	128181630	7168	14880											
PPP2R5D	5528	broad.mit.edu	37	chr6	42974254	42974254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcccagtctcagccaccGtcatccaacaagcgtcccag	7	18	2	0	rs141996737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42974254G>A	ENST00000485511.1	+	3	338	c.159G>A	c.(157-159)ccG>ccA	p.P53P	PPP2R5D_ENST00000394110.3_Silent_p.P53P|PPP2R5D_ENST00000472118.1_Silent_p.P45P|PPP2R5D_ENST00000461010.1_Intron	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	53					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ctcagccACCGTCATCCAACA	0.612													False	0	False	6:42974254	0	A	42974254	G	A	42974254	2	1	88	1	0	0	0	0	0	0	0	1	12469	1132	40	1		1	PPP2R5D	6	42974254	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40817	42974254	128140813	7169	14881											
PPP2R5D	5528	broad.mit.edu	37	chr6	42974287	42974287	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtcccagcaatagcacgccGccccccacgcagctcagcaa	8	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42974287G>T	ENST00000485511.1	+	3	371	c.192G>T	c.(190-192)ccG>ccT	p.P64P	PPP2R5D_ENST00000394110.3_Silent_p.P64P|PPP2R5D_ENST00000472118.1_Silent_p.P56P|PPP2R5D_ENST00000461010.1_Intron	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	64					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATAGCACGCCGCCCCCCACGC	0.622													False	0	True	6:42974287	0	T	42974287	G	T	42974287	2	4	88	1	0	0	0	0	0	0	0	1	12469	1074	38	3		3	PPP2R5D	6	42974287	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	42974287	128140780	7170	14882											
KLHDC3	116138	broad.mit.edu	37	chr6	42986629	42986629	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggaaaaagattgaaccGaaggggaaggggccatgtcc	14	8	0	2	rs34597116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42986629G>A	ENST00000326974.4	+	8	1044	c.849G>A	c.(847-849)ccG>ccA	p.P283P	KLHDC3_ENST00000332245.8_Silent_p.P224P|KLHDC3_ENST00000244670.8_Silent_p.P149P	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	283					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGATTGAACCGAAGGGGAAGG	0.522													False	0	False	6:42986629	0	A	42986629	G	A	42986629	2	1	88	1	0	0	0	0	0	0	0	1	8407	1045	37	1		1	KLHDC3	6	42986629	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12342	42986629	128128438	7171	14883											
CUL7	9820	broad.mit.edu	37	chr6	43005624	43005624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtcgtcatggcgtctcagCgtgcccttgcccaggaggtg	15	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43005624C>T	ENST00000535468.1	-	26	5237	c.5151G>A	c.(5149-5151)acG>acA	p.T1717T	CUL7_ENST00000265348.3_Silent_p.T1633T	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1633					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCGTCTCAGCGTGCCCTTGC	0.627													False	0	False	6:43005624	0	T	43005624	C	T	43005624	2	4	88	1	0	0	0	0	0	0	0	1	4085	755	27	1		1	CUL7	6	43005624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18995	43005624	128109443	7172	14884											
CUL7	9820	broad.mit.edu	37	chr6	43006104	43006104	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttccgtctcttctccaagttCtggccgtcttcaccctcagc	6	17	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43006104C>A	ENST00000535468.1	-	25	5012	c.4926G>T	c.(4924-4926)caG>caT	p.Q1642H	CUL7_ENST00000265348.3_Missense_Mutation_p.Q1558H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1558					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTCCAAGTTCTGGCCGTCTT	0.552													False	0	False	6:43006104	0	A	43006104	C	A	43006104	3	1	88	1	0	0	0	0	1	0	0	0	4085	912	32	3	430	3	CUL7	6	43006104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	480	43006104	128108963	7173	14885											
CUL7	9820	broad.mit.edu	37	chr6	43006154	43006154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctgaggtgggatgagccGcacaatgtcccatctcgacc	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43006154G>A	ENST00000535468.1	-	25	4962	c.4876C>T	c.(4876-4878)Cgg>Tgg	p.R1626W	CUL7_ENST00000265348.3_Missense_Mutation_p.R1542W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1542					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGATGAGCCGCACAATGTCC	0.542													False	0	False	6:43006154	0	A	43006154	G	A	43006154	3	1	88	1	0	0	0	0	1	0	0	0	4085	1086	38	1	480	1	CUL7	6	43006154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	43006154	128108913	7174	14886											
CUL7	9820	broad.mit.edu	37	chr6	43015930	43015930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggcaggccatgcaggcatCcacggcctcgtgccagggga	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43015930C>T	ENST00000535468.1	-	9	2463	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	CUL7_ENST00000265348.3_Missense_Mutation_p.D709N	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	709					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATGCAGGCATCCACGGCCTCG	0.642													False	0	False	6:43015930	0	T	43015930	C	T	43015930	3	4	88	1	0	0	0	0	1	0	0	0	4085	855	30	2	3043	2	CUL7	6	43015930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9776	43015930	128099137	7175	14887											
CUL7	9820	broad.mit.edu	37	chr6	43016152	43016152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaagggctgcggctgccGctgcagctgcagcaggagtg	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43016152G>A	ENST00000535468.1	-	8	2319	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W	CUL7_ENST00000265348.3_Missense_Mutation_p.R661W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	661					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGCGGCTGCCGCTGCAGCTGC	0.597													False	0	False	6:43016152	0	A	43016152	G	A	43016152	3	1	88	1	0	0	0	0	1	0	0	0	4085	1086	38	1	3191	1	CUL7	6	43016152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222	43016152	128098915	7176	14888											
CUL7	9820	broad.mit.edu	37	chr6	43017878	43017878	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagagttctgtcatgggcctCcagcgccaggcaggcagggc	15	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43017878C>T	ENST00000535468.1	-	6	1730	c.1644G>A	c.(1642-1644)tgG>tgA	p.W548*	CUL7_ENST00000265348.3_Nonsense_Mutation_p.W464*	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	464					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCATGGGCCTCCAGCGCCAGG	0.577													False	0	False	6:43017878	0	T	43017878	C	T	43017878	4	4	88	1	0	0	0	0	0	1	0	0	4085	856	30	2	3788	2	CUL7	6	43017878	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1726	43017878	128097189	7177	14889											
CUL7	9820	broad.mit.edu	37	chr6	43020447	43020447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatggcccacgcgctggCggatcagctcatcaggatag	12	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43020447C>T	ENST00000535468.1	-	2	322	c.236G>A	c.(235-237)cGc>cAc	p.R79H	CUL7_ENST00000265348.3_Missense_Mutation_p.R27H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	27					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CACGCGCTGGCGGATCAGCTC	0.637													False	0	False	6:43020447	0	T	43020447	C	T	43020447	3	4	88	1	0	0	0	0	1	0	0	0	4085	768	27	1	5212	1	CUL7	6	43020447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2569	43020447	128094620	7178	14890											
PTK7	0	broad.mit.edu	37	chr6	43097480	43097480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacagggattgaggcaggtcCtgtggtcctgaagcatccag	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43097480C>A	ENST00000230419.4	+	3	604	c.383C>A	c.(382-384)cCt>cAt	p.P128H	PTK7_ENST00000471863.1_Missense_Mutation_p.P128H|PTK7_ENST00000345201.2_Missense_Mutation_p.P128H|PTK7_ENST00000349241.2_Missense_Mutation_p.P128H|PTK7_ENST00000352931.2_Missense_Mutation_p.P128H|PTK7_ENST00000481273.1_Missense_Mutation_p.P136H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	128	Ig-like C2-type 2.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GAGGCAGGTCCTGTGGTCCTG	0.612											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	6:43097480	0	A	43097480	C	A	43097480	3	1	88	1	0	0	0	0	1	0	0	0	12842	681	24	3	393	3	PTK7	6	43097480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77033	43097480	128017587	7179	14891											
PTK7	0	broad.mit.edu	37	chr6	43113120	43113120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggtgcggctcctggggCtgtgccgggaggctgagccc	19	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43113120C>T	ENST00000230419.4	+	16	2811	c.2590C>T	c.(2590-2592)Ctg>Ttg	p.L864L	PTK7_ENST00000345201.2_Silent_p.L824L|PTK7_ENST00000349241.2_Silent_p.L734L|PTK7_ENST00000352931.2_Silent_p.L808L|PTK7_ENST00000481273.1_Silent_p.L872L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	864	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCTCCTGGGGCTGTGCCGGGA	0.622													False	0	True	6:43113120	0	T	43113120	C	T	43113120	2	4	88	1	0	0	0	0	0	0	0	1	12842	796	28	2		2	PTK7	6	43113120	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15640	43113120	128001947	7180	14892											
CUL9	23113	broad.mit.edu	37	chr6	43152468	43152468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaccccaagcctcacggcCgctgtgcttcacaccatcca	9	18	2	0	rs146357794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43152468C>T	ENST00000252050.4	+	2	504	c.420C>T	c.(418-420)gcC>gcT	p.A140A	CUL9_ENST00000372647.2_Silent_p.A140A|CUL9_ENST00000354495.3_Silent_p.A140A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	140					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCCTCACGGCCGCTGTGCTTC	0.627													False	0	False	6:43152468	0	T	43152468	C	T	43152468	2	4	88	1	0	0	0	0	0	0	0	1	4086	639	23	1		1	CUL9	6	43152468	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39348	43152468	127962599	7181	14893											
CUL9	23113	broad.mit.edu	37	chr6	43155466	43155466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagaccctgggtgaaaagGccctaggtgagatctctgtg	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43155466G>A	ENST00000252050.4	+	7	1681	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	CUL9_ENST00000372647.2_Missense_Mutation_p.A533T|CUL9_ENST00000354495.3_Missense_Mutation_p.A423T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	533					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGGTGAAAAGGCCCTAGGTGA	0.517													False	0	True	6:43155466	0	A	43155466	G	A	43155466	3	1	88	1	0	0	0	0	1	0	0	0	4086	1203	42	2	1619	2	CUL9	6	43155466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2998	43155466	127959601	7182	14894											
CUL9	23113	broad.mit.edu	37	chr6	43182887	43182887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgttgctgggggtgtggCctgtaccagtacagatgtcc	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43182887C>T	ENST00000252050.4	+	30	5843	c.5759C>T	c.(5758-5760)gCc>gTc	p.A1920V	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.A1892V|CUL9_ENST00000354495.3_Missense_Mutation_p.A1810V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1920					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGGGGTGTGGCCTGTACCAGT	0.577													False	0	False	6:43182887	0	T	43182887	C	T	43182887	3	4	88	1	0	0	0	0	1	0	0	0	4086	739	26	2	5873	2	CUL9	6	43182887	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27421	43182887	127932180	7183	14895											
TTBK1	84630	broad.mit.edu	37	chr6	43250511	43250511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaatggcctcccacgagCtgtgcctctgagtctgccct	12	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43250511C>T	ENST00000259750.4	+	14	2116	c.2033C>T	c.(2032-2034)gCt>gTt	p.A678V		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	678						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTCCCACGAGCTGTGCCTCTG	0.627													False	0	False	6:43250511	0	T	43250511	C	T	43250511	3	4	88	1	0	0	0	0	1	0	0	0	16760	797	28	2	2083	2	TTBK1	6	43250511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67624	43250511	127864556	7184	14896											
TTBK1	84630	broad.mit.edu	37	chr6	43251286	43251286	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgcacattgcggagaaAacccacctcaacgtcatgtc	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43251286A>C	ENST00000259750.4	+	14	2891	c.2808A>C	c.(2806-2808)aaA>aaC	p.K936N		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	936						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTGCGGAGAAAACCCACCTCA	0.637													False	0	True	6:43251286	0	C	43251286	A	C	43251286	3	2	88	1	0	0	0	0	1	0	0	0	16760	11	1	4	2858	4	TTBK1	6	43251286	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	775	43251286	127863781	7185	14897											
SLC22A7	10864	broad.mit.edu	37	chr6	43266443	43266443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtgccctgctctcaggGctgggagtacgaccactcag	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43266443G>A	ENST00000372585.5	+	1	442	c.347G>A	c.(346-348)gGc>gAc	p.G116D	SLC22A7_ENST00000372589.3_Missense_Mutation_p.G116D|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G116D|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	116						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGCTCTCAGGGCTGGGAGTAC	0.572													False	0	True	6:43266443	0	A	43266443	G	A	43266443	3	1	88	1	0	0	0	0	1	0	0	0	14539	1203	42	2	349	2	SLC22A7	6	43266443	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15157	43266443	127848624	7186	14898											
ZNF318	24149	broad.mit.edu	37	chr6	43305331	43305331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattcttttacttcctcaggCatcattcctcctgctaacag	5	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305331C>T	ENST00000361428.2	-	10	6482	c.6405G>A	c.(6403-6405)atG>atA	p.M2135I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2135					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTCCTCAGGCATCATTCCTC	0.458													False	0	False	6:43305331	0	T	43305331	C	T	43305331	3	4	88	1	0	0	0	0	1	0	0	0	17919	710	25	2	438	2	ZNF318	6	43305331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38888	43305331	127809736	7187	14899											
ZNF318	24149	broad.mit.edu	37	chr6	43305593	43305593	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacaccctataggtgatacaGaattttcttcacacactttc	4	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305593G>A	ENST00000361428.2	-	10	6220	c.6143C>T	c.(6142-6144)tCt>tTt	p.S2048F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2048					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGTGATACAGAATTTTCTTC	0.468													False	0	False	6:43305593	0	A	43305593	G	A	43305593	3	1	88	1	0	0	0	0	1	0	0	0	17919	942	33	2	700	2	ZNF318	6	43305593	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262	43305593	127809474	7188	14900											
ZNF318	24149	broad.mit.edu	37	chr6	43305786	43305786	+	Missense_Mutation	SNP	C	C	T													tgttaactctggatggacatCttgtagctccagtgcttctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305786C>T	ENST00000361428.2	-	10	6027	c.5950G>A	c.(5950-5952)Gat>Aat	p.D1984N	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1984					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGATGGACATCTTGTAGCTCC	0.453													False	0	False	6:43305786	0	T	43305786	C	T	43305786	3	4	88	1	0	0	0	0	1	0	0	0	17919	913	32	2	893	2	ZNF318	6	43305786	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193	43305786	127809281	7189	14901	188	2									
ZNF318	24149	broad.mit.edu	37	chr6	43305787	43305787	+	Silent	SNP	T	T	C													gttaactctggatggacatcTtgtagctccagtgcttctgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305787T>C	ENST00000361428.2	-	10	6026	c.5949A>G	c.(5947-5949)caA>caG	p.Q1983Q	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1983					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATGGACATCTTGTAGCTCCA	0.453													False	0	False	6:43305787	0	C	43305787	T	C	43305787	2	2	88	1	0	0	0	0	0	0	0	1	17919	1606	56	4		4	ZNF318	6	43305787	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1	43305787	127809280	7190	14902	188	2									
ZNF318	24149	broad.mit.edu	37	chr6	43307732	43307732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcacaacaggcatccaaGggctggtatgtgcaacaaca	10	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43307732G>T	ENST00000361428.2	-	10	4081	c.4004C>A	c.(4003-4005)cCt>cAt	p.P1335H	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1335					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGCATCCAAGGGCTGGTATG	0.478													False	0	True	6:43307732	0	T	43307732	G	T	43307732	3	4	88	1	0	0	0	0	1	0	0	0	17919	1000	35	3	2839	3	ZNF318	6	43307732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1945	43307732	127807335	7191	14903											
ZNF318	24149	broad.mit.edu	37	chr6	43308239	43308239	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgggttttcatccacatatTtctgggaagaaaaaagataa	8	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43308239T>G	ENST00000361428.2	-	10	3574	c.3497A>C	c.(3496-3498)aAa>aCa	p.K1166T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1166					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATCCACATATTTCTGGGAAGA	0.448													False	0	True	6:43308239	0	G	43308239	T	G	43308239	5	3	88	1	0	0	0	0	0	0	1	0	17919	1855	64	4	3346	4	ZNF318	6	43308239	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	507	43308239	127806828	7192	14904											
ZNF318	24149	broad.mit.edu	37	chr6	43324962	43324962	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggccgatgcaaagaatatcCtggctccgatgctgttagga	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43324962C>A	ENST00000361428.2	-	3	1167	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.G364*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	364					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AAAGAATATCCTGGCTCCGAT	0.512													False	0	False	6:43324962	0	A	43324962	C	A	43324962	4	1	88	1	0	0	0	0	0	1	0	0	17919	690	24	3	5781	3	ZNF318	6	43324962	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16723	43324962	127790105	7193	14905											
ABCC10	89845	broad.mit.edu	37	chr6	43400035	43400035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagaggtgttggcagggtGcgtggcagctgtggcctgga	20	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400035G>A	ENST00000244533.3	+	1	547	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	ABCC10_ENST00000372530.4_Missense_Mutation_p.C106Y|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	106						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TTGGCAGGGTGCGTGGCAGCT	0.637													False	0	False	6:43400035	0	A	43400035	G	A	43400035	3	1	88	1	0	0	0	0	1	0	0	0	50	1319	46	2	190	2	ABCC10	6	43400035	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75073	43400035	127715032	7194	14906											
ABCC10	89845	broad.mit.edu	37	chr6	43400424	43400424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcacccttgctggcccgtGgggcctgtggagagctccgg	17	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400424G>T	ENST00000244533.3	+	1	936	c.577G>T	c.(577-579)Ggg>Tgg	p.G193W	ABCC10_ENST00000372530.4_Missense_Mutation_p.G236W|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	236						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCTGGCCCGTGGGGCCTGTGG	0.637													False	0	True	6:43400424	0	T	43400424	G	T	43400424	3	4	88	1	0	0	0	0	1	0	0	0	50	1348	47	3	579	3	ABCC10	6	43400424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389	43400424	127714643	7195	14907											
ABCC10	89845	broad.mit.edu	37	chr6	43400442	43400442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggggcctgtggagagctcCggcagcctcaggacatttgc	16	11	1	1	rs147197045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400442C>T	ENST00000244533.3	+	1	954	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	ABCC10_ENST00000372530.4_Missense_Mutation_p.R242W|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	242						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGAGAGCTCCGGCAGCCTCA	0.637													False	0	False	6:43400442	0	T	43400442	C	T	43400442	3	4	88	1	0	0	0	0	1	0	0	0	50	643	23	1	597	1	ABCC10	6	43400442	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	43400442	127714625	7196	14908											
ABCC10	89845	broad.mit.edu	37	chr6	43417778	43417778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccactccctgttccagcaGctgctgcagagcagccagca	9	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43417778G>A	ENST00000244533.3	+	20	4703	c.4344G>A	c.(4342-4344)caG>caA	p.Q1448Q	ABCC10_ENST00000372530.4_Silent_p.Q1476Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1476	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q1448H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGTTCCAGCAGCTGCTGCAGA	0.652													False	0	False	6:43417778	0	A	43417778	G	A	43417778	2	1	88	1	0	0	0	0	0	0	0	1	50	962	34	2		2	ABCC10	6	43417778	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17336	43417778	127697289	7197	14909											
DLK2	65989	broad.mit.edu	37	chr6	43418966	43418966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcacgtgaagttgagagCaaagccctggtcgtcctggc	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43418966C>T	ENST00000357338.3	-	6	1163	c.463G>A	c.(463-465)Gct>Act	p.A155T	DLK2_ENST00000414245.1_Missense_Mutation_p.A149T|DLK2_ENST00000372488.3_Missense_Mutation_p.A155T|DLK2_ENST00000372485.1_Missense_Mutation_p.A149T	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	155	EGF-like 4.					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAGTTGAGAGCAAAGCCCTGG	0.592													False	0	True	6:43418966	0	T	43418966	C	T	43418966	3	4	88	1	0	0	0	0	1	0	0	0	4595	710	25	2	692	2	DLK2	6	43418966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1188	43418966	127696101	7198	14910											
DLK2	65989	broad.mit.edu	37	chr6	43420813	43420813	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctggtggcaggtaccgtgCtggcagccaggcatcctcac	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43420813C>A	ENST00000357338.3	-	4	901	c.201G>T	c.(199-201)caG>caT	p.Q67H	DLK2_ENST00000414245.1_Missense_Mutation_p.Q67H|DLK2_ENST00000372488.3_Missense_Mutation_p.Q67H|DLK2_ENST00000372485.1_Missense_Mutation_p.Q67H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	67	EGF-like 2.					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGTACCGTGCTGGCAGCCAG	0.632													False	0	False	6:43420813	0	A	43420813	C	A	43420813	3	1	88	1	0	0	0	0	1	0	0	0	4595	796	28	3	962	3	DLK2	6	43420813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1847	43420813	127694254	7199	14911											
YIPF3	25844	broad.mit.edu	37	chr6	43480031	43480031	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggatgggcgggatgttgggGccctccagtgtgtccaggat	18	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43480031G>T	ENST00000372422.2	-	9	1109	c.927C>A	c.(925-927)ggC>ggA	p.G309G	YIPF3_ENST00000506469.1_Silent_p.G315G	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	309					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGATGTTGGGGCCCTCCAGTG	0.612													False	0	True	6:43480031	0	T	43480031	G	T	43480031	2	4	88	1	0	0	0	0	0	0	0	1	17563	1190	42	3		3	YIPF3	6	43480031	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59218	43480031	127635036	7200	14912											
YIPF3	25844	broad.mit.edu	37	chr6	43480841	43480841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagcatggtgatctggGcgttgcacaggtaggcaagg	16	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43480841G>A	ENST00000372422.2	-	6	814	c.632C>T	c.(631-633)gCc>gTc	p.A211V	YIPF3_ENST00000506469.1_Missense_Mutation_p.A217V	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	211					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGTGATCTGGGCGTTGCACAG	0.567													False	0	True	6:43480841	0	A	43480841	G	A	43480841	3	1	88	1	0	0	0	0	1	0	0	0	17563	1203	42	2	436	2	YIPF3	6	43480841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	810	43480841	127634226	7201	14913											
POLH	5429	broad.mit.edu	37	chr6	43565513	43565513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctccagacctgcagctcAccgtgggagcagtgattgtg	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43565513A>G	ENST00000372236.4	+	5	866	c.571A>G	c.(571-573)Acc>Gcc	p.T191A	POLH_ENST00000372226.1_Missense_Mutation_p.T191A|POLH_ENST00000535400.1_Missense_Mutation_p.T129A	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	191	UmuC.				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCTGCAGCTCACCGTGGGAGC	0.458								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				False	0	False	6:43565513	0	G	43565513	A	G	43565513	3	3	88	1	0	0	0	0	1	0	0	0	12271	159	6	4	585	4	POLH	6	43565513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	84672	43565513	127549554	7202	14914											
RSPH9	221421	broad.mit.edu	37	chr6	43638647	43638647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggctacgtctacgtgggCactggcgagaagaacatgga	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43638647C>T	ENST00000372165.4	+	6	897	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	RSPH9_ENST00000372163.4_Silent_p.G264G	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCTACGTGGGCACTGGCGAGA	0.532									Kartagener syndrome				False	0	True	6:43638647	0	T	43638647	C	T	43638647	3	4	88	1	0	0	0	0	1	0	0	0	13787	697	25	2	810	2	RSPH9	6	43638647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73134	43638647	127476420	7203	14915											
TMEM63B	55362	broad.mit.edu	37	chr6	44116249	44116249	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccagtgcccatctttctaGcatcctgaaggacttcaacg	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44116249G>T	ENST00000259746.9	+	14	1304		c.e14-1		TMEM63B_ENST00000323267.6_Splice_Site			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B							integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CATCTTTCTAGCATCCTGAAG	0.622													False	0	False	6:44116249	0	T	44116249	G	T	44116249	5	4	88	1	0	0	0	0	0	0	1	0	16273	985	34	3	1171	3	TMEM63B	6	44116249	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	477602	44116249	126998818	7204	14916											
CAPN11	11131	broad.mit.edu	37	chr6	44148732	44148732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcatgatcaacctcatgGatgtatcctcctgtccagtg	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44148732G>A	ENST00000542245.1	+	18	1905	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	CAPN11_ENST00000398776.1_Missense_Mutation_p.D623N			Q9UMQ6	CAN11_HUMAN	calpain 11	623	Domain IV.|EF-hand 1.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAACCTCATGGATGTATCCTC	0.592													False	0	False	6:44148732	0	A	44148732	G	A	44148732	3	1	88	1	0	0	0	0	1	0	0	0	2644	1174	41	2	1937	2	CAPN11	6	44148732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32483	44148732	126966335	7205	14917											
HSP90AB1	3326	broad.mit.edu	37	chr6	44218108	44218109	+	In_Frame_Ins	INS	-	-	TTAAAA													aagaagaggaagataaagatINSgatgaagaaaaacccaagat					rs11538968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44218108_44218109insTTAAAA	ENST00000371554.1	+	6	943_944	c.729_730insTTAAAA	c.(730-732)gat>TTAAAAgat	p.243_244insLK	HSP90AB1_ENST00000371646.5_In_Frame_Ins_p.243_244insLK|HSP90AB1_ENST00000353801.3_In_Frame_Ins_p.243_244insLK			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	243					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			aagataaagatgatgaagaaaa	0.386													False	0	False	6:44218108	0	TTAAAA	44218109	-	TTAAAA	44218108	7	5	88	1	0	1	1	0	0	0	0	0	7451	1461	51	0	747	0	HSP90AB1	6	44218108	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	69376	44218108	126896959	7206	14918	189	2									
HSP90AB1	3326	broad.mit.edu	37	chr6	44218109	44218110	+	Frame_Shift_Ins	INS	-	-	TCCATACTCAC													agaagaggaagataaagatgINSatgaagaaaaacccaagatc					rs11538968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44218109_44218110insTCCATACTCAC	ENST00000371554.1	+	6	944_945	c.730_731insTCCATACTCAC	c.(730-732)gatfs	p.D244fs	HSP90AB1_ENST00000371646.5_Frame_Shift_Ins_p.D244fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Ins_p.D244fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	244					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			agataaagatgatgaagaaaaa	0.381													False	0	False	6:44218109	0	TCCATACTCAC	44218110	-	TCCATACTCAC	44218109	7	5	88	1	0	1	1	0	0	0	0	0	7451	1290	45	0	748	0	HSP90AB1	6	44218109	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1	44218109	126896958	7207	14919	189	2									
NFKBIE	4794	broad.mit.edu	37	chr6	44229575	44229575	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagatgtacagccagaTggagtgctgtctggaggcac	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44229575T>C	ENST00000275015.5	-	3	895	c.896A>G	c.(895-897)cAt>cGt	p.H299R		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	299					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACAGCCAGATGGAGTGCTGT	0.612													False	0	False	6:44229575	0	C	44229575	T	C	44229575	3	2	88	1	0	0	0	0	1	0	0	0	10448	1464	51	4	622	4	NFKBIE	6	44229575	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11466	44229575	126885492	7208	14920											
TCTE1	202500	broad.mit.edu	37	chr6	44247991	44247991	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggattcagggcccgctggCgggctgcttctcggtttgcg	17	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44247991C>T	ENST00000371505.4	-	5	1555	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H	TCTE1_ENST00000371504.1_Missense_Mutation_p.R175H|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_Missense_Mutation_p.R175H	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	478										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCCCGCTGGCGGGCTGCTTC	0.557													False	0	True	6:44247991	0	T	44247991	C	T	44247991	3	4	88	1	0	0	0	0	1	0	0	0	15799	768	27	1	76	1	TCTE1	6	44247991	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18416	44247991	126867076	7209	14921											
AARS2	57505	broad.mit.edu	37	chr6	44270564	44270564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctgctccccagtgacgGccagcaggcgggtagtgccc	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44270564G>A	ENST00000244571.4	-	17	2341	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	780					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCCAGTGACGGCCAGCAGGCG	0.627													False	0	False	6:44270564	0	A	44270564	G	A	44270564	3	1	88	1	0	0	0	0	1	0	0	0	20	1203	42	2	642	2	AARS2	6	44270564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22573	44270564	126844503	7210	14922											
AARS2	57505	broad.mit.edu	37	chr6	44272508	44272508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggaggccactgctgtcccGtcctctgtatacagttgcaa	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44272508G>A	ENST00000244571.4	-	12	1628	c.1626C>T	c.(1624-1626)gaC>gaT	p.D542D	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	542					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CTGCTGTCCCGTCCTCTGTAT	0.617											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	6:44272508	0	A	44272508	G	A	44272508	2	1	88	1	0	0	0	0	0	0	0	1	20	1136	40	1		1	AARS2	6	44272508	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1944	44272508	126842559	7211	14923											
AARS2	57505	broad.mit.edu	37	chr6	44274124	44274124	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtcctctgacaccaggttgGcgatctgaaccaggcagaga	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44274124G>T	ENST00000244571.4	-	9	1195	c.1193C>A	c.(1192-1194)gCc>gAc	p.A398D	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	398					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CACCAGGTTGGCGATCTGAAC	0.587													False	0	False	6:44274124	0	T	44274124	G	T	44274124	3	4	88	1	0	0	0	0	1	0	0	0	20	1203	42	3	1820	3	AARS2	6	44274124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1616	44274124	126840943	7212	14924											
AARS2	57505	broad.mit.edu	37	chr6	44279892	44279892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgacccacatcttccaGgtcgttatggtgtcctccag	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44279892G>T	ENST00000244571.4	-	2	354	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	118					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ACATCTTCCAGGTCGTTATGG	0.517													False	0	False	6:44279892	0	T	44279892	G	T	44279892	3	4	88	1	0	0	0	0	1	0	0	0	20	991	35	3	2689	3	AARS2	6	44279892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5768	44279892	126835175	7213	14925											
CDC5L	988	broad.mit.edu	37	chr6	44371706	44371706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgaggaaaactaccaaGctcttgacgcagatttcagg	9	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44371706G>A	ENST00000371477.3	+	6	999	c.700G>A	c.(700-702)Gct>Act	p.A234T		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	234					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAACTACCAAGCTCTTGACGC	0.383													False	0	False	6:44371706	0	A	44371706	G	A	44371706	3	1	88	1	0	0	0	0	1	0	0	0	3105	971	34	2	722	2	CDC5L	6	44371706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91814	44371706	126743361	7214	14926											
CDC5L	988	broad.mit.edu	37	chr6	44394257	44394257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacccttaaatgtagaaccGcctttaacagatttacagaa	6	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44394257G>A	ENST00000371477.3	+	13	1988	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	563	Interaction with DAPK3 (By similarity).|Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGTAGAACCGCCTTTAACAG	0.284													False	0	False	6:44394257	0	A	44394257	G	A	44394257	2	1	88	1	0	0	0	0	0	0	0	1	3105	1074	38	1		1	CDC5L	6	44394257	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22551	44394257	126720810	7215	14927											
RUNX2	860	broad.mit.edu	37	chr6	45459688	45459688	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctatttccagggcacagacaGaagcttgatgactctaaacc	8	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45459688G>A	ENST00000371438.1	+	5	1054	c.696G>A	c.(694-696)caG>caA	p.Q232Q	RUNX2_ENST00000465038.2_Silent_p.Q232Q|RUNX2_ENST00000371432.3_Silent_p.Q218Q|RUNX2_ENST00000576263.1_Silent_p.Q232Q|RUNX2_ENST00000352853.5_Silent_p.Q300Q|RUNX2_ENST00000541979.1_Silent_p.Q300Q|RUNX2_ENST00000359524.5_Silent_p.Q218Q|RUNX2_ENST00000371436.6_Silent_p.Q232Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	232					negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGCACAGACAGAAGCTTGATG	0.418													False	0	True	6:45459688	0	A	45459688	G	A	45459688	2	1	88	1	0	0	0	0	0	0	0	1	13827	933	33	2		2	RUNX2	6	45459688	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1065431	45459688	125655379	7216	14928											
RUNX2	860	broad.mit.edu	37	chr6	45514903	45514903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttccgccatgcaccaccaCctcgaatggcagcacgctat	8	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45514903C>T	ENST00000371438.1	+	8	1785	c.1427C>T	c.(1426-1428)aCc>aTc	p.T476I	RUNX2_ENST00000465038.2_Missense_Mutation_p.T476I|RUNX2_ENST00000371432.3_Missense_Mutation_p.T440I|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000352853.5_Missense_Mutation_p.T544I|RUNX2_ENST00000541979.1_Missense_Mutation_p.T522I|RUNX2_ENST00000359524.5_Missense_Mutation_p.T462I|RUNX2_ENST00000371436.6_Missense_Mutation_p.T454I	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	476	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGCACCACCACCTCGAATGGC	0.507													False	0	True	6:45514903	0	T	45514903	C	T	45514903	3	4	88	1	0	0	0	0	1	0	0	0	13827	507	18	2	1473	2	RUNX2	6	45514903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55215	45514903	125600164	7217	14929											
CLIC5	53405	broad.mit.edu	37	chr6	45870911	45870911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttggtgaactcatcacGggcataggcgttcttgaggt	15	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45870911G>A	ENST00000185206.6	-	6	1299	c.1147C>T	c.(1147-1149)Cgt>Tgt	p.R383C	CLIC5_ENST00000339561.6_Missense_Mutation_p.R224C	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	383	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AACTCATCACGGGCATAGGCG	0.537													False	0	True	6:45870911	0	A	45870911	G	A	45870911	3	1	88	1	0	0	0	0	1	0	0	0	3552	1116	39	1	89	1	CLIC5	6	45870911	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	356008	45870911	125244156	7218	14930											
ENPP4	22875	broad.mit.edu	37	chr6	46107841	46107841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactatgtggctaaacaattCgaacccaccagtcacctttg	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46107841C>T	ENST00000321037.4	+	2	751	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	174						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTAAACAATTCGAACCCACCA	0.393													False	0	False	6:46107841	0	T	46107841	C	T	46107841	3	4	88	1	0	0	0	0	1	0	0	0	5164	893	31	1	523	1	ENPP4	6	46107841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	236930	46107841	125007226	7219	14931											
ENPP4	22875	broad.mit.edu	37	chr6	46108086	46108086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	taaacctggattcctgcatcGatcattcatactacactctt	4	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46108086G>T	ENST00000321037.4	+	2	996	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	256						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TTCCTGCATCGATCATTCATA	0.388													False	0	False	6:46108086	0	T	46108086	G	T	46108086	3	4	88	1	0	0	0	0	1	0	0	0	5164	1058	37	3	768	3	ENPP4	6	46108086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	245	46108086	125006981	7220	14932											
ENPP5	59084	broad.mit.edu	37	chr6	46129280	46129280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactctgtgtataagggaccAcccttggcattgctgaattg	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46129280A>G	ENST00000371383.2	-	5	1477	c.1217T>C	c.(1216-1218)gTg>gCg	p.V406A	ENPP5_ENST00000230565.3_Missense_Mutation_p.V406A			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	406						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATAAGGGACCACCCTTGGCAT	0.468													False	0	True	6:46129280	0	G	46129280	A	G	46129280	3	3	88	1	0	0	0	0	1	0	0	0	5165	159	6	4	220	4	ENPP5	6	46129280	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21194	46129280	124985787	7221	14933											
CYP39A1	51302	broad.mit.edu	37	chr6	46563770	46563770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctagtaatgacaccaggaGcttttaaacgaatggtttcc	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46563770G>T	ENST00000275016.2	-	8	1222	c.1019C>A	c.(1018-1020)gCt>gAt	p.A340D		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	340					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GACACCAGGAGCTTTTAAACG	0.343													False	0	False	6:46563770	0	T	46563770	G	T	46563770	3	4	88	1	0	0	0	0	1	0	0	0	4202	971	34	3	410	3	CYP39A1	6	46563770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	434490	46563770	124551297	7222	14934											
CYP39A1	51302	broad.mit.edu	37	chr6	46610004	46610004	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taacaaaggtcattcggtttCccatagcaaagactgtaaat	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46610004C>T	ENST00000275016.2	-	2	412	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	70					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CATTCGGTTTCCCATAGCAAA	0.318													False	0	True	6:46610004	0	T	46610004	C	T	46610004	3	4	88	1	0	0	0	0	1	0	0	0	4202	855	30	2	1244	2	CYP39A1	6	46610004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46234	46610004	124505063	7223	14935											
TDRD6	221400	broad.mit.edu	37	chr6	46657569	46657569	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacaagagtgtggatgtattCttagttgaccgaggcaattc	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46657569C>T	ENST00000544460.1	+	1	1958	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	TDRD6_ENST00000316081.6_Silent_p.F568F	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	568	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGGATGTATTCTTAGTTGACC	0.443													False	0	False	6:46657569	0	T	46657569	C	T	46657569	2	4	88	1	0	0	0	0	0	0	0	1	15816	912	32	2		2	TDRD6	6	46657569	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47565	46657569	124457498	7224	14936											
TDRD6	221400	broad.mit.edu	37	chr6	46661801	46661801	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatatatgtgaagaagaatTtgtagagtataaaaacaggg	11	1	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46661801T>A	ENST00000544460.1	+	1	6190	c.5936T>A	c.(5935-5937)tTt>tAt	p.F1979Y	TDRD6_ENST00000316081.6_Missense_Mutation_p.F1979Y	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1979					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAAGAAGAATTTGTAGAGTAT	0.388													False	0	True	6:46661801	0	A	46661801	T	A	46661801	3	1	88	1	0	0	0	0	1	0	0	0	15816	1841	64	5	5938	5	TDRD6	6	46661801	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4232	46661801	124453266	7225	14937											
PLA2G7	7941	broad.mit.edu	37	chr6	46677077	46677077	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttacctgaatctctgatCttcactaagagtctgaataa	5	9	5	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46677077C>T	ENST00000274793.7	-	9	1052	c.856G>A	c.(856-858)Gat>Aat	p.D286N	PLA2G7_ENST00000537365.1_Missense_Mutation_p.D286N	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	286					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AATCTCTGATCTTCACTAAGA	0.284													False	0	False	6:46677077	0	T	46677077	C	T	46677077	3	4	88	1	0	0	0	0	1	0	0	0	12078	913	32	2	485	2	PLA2G7	6	46677077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15276	46677077	124437990	7226	14938											
MEP1A	4224	broad.mit.edu	37	chr6	46787418	46787418	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggatgattatgtgaacaTctggtgggaccaaattcttt	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46787418T>G	ENST00000230588.4	+	7	542	c.533T>G	c.(532-534)aTc>aGc	p.I178S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	178	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TATGTGAACATCTGGTGGGAC	0.473													False	0	False	6:46787418	0	G	46787418	T	G	46787418	3	3	88	1	0	0	0	0	1	0	0	0	9542	1435	50	4	559	4	MEP1A	6	46787418	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110341	46787418	124327649	7227	14939											
MEP1A	4224	broad.mit.edu	37	chr6	46794235	46794235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaccttgttgggacaatGcacaggtcagtgaaagtgga	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46794235G>A	ENST00000230588.4	+	9	932	c.923G>A	c.(922-924)tGc>tAc	p.C308Y		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	308	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGGGACAATGCACAGGTCAG	0.483													False	0	False	6:46794235	0	A	46794235	G	A	46794235	3	1	88	1	0	0	0	0	1	0	0	0	9542	1319	46	2	957	2	MEP1A	6	46794235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6817	46794235	124320832	7228	14940											
MEP1A	4224	broad.mit.edu	37	chr6	46806754	46806754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcttctacacgggggagCgctgtcaggccgtgcaggtg	15	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46806754C>T	ENST00000230588.4	+	14	2131	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	708	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CACGGGGGAGCGCTGTCAGGC	0.587													False	0	False	6:46806754	0	T	46806754	C	T	46806754	3	4	88	1	0	0	0	0	1	0	0	0	9542	768	27	1	2176	1	MEP1A	6	46806754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12519	46806754	124308313	7229	14941											
GPR116	221395	broad.mit.edu	37	chr6	46827246	46827246	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccaaggatgacattaacCgtagagagcacgtgctgaaa	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46827246C>T	ENST00000283296.7	-	17	2682	c.2394G>A	c.(2392-2394)acG>acA	p.T798T	GPR116_ENST00000545669.1_Silent_p.T227T|GPR116_ENST00000265417.7_Silent_p.T798T|GPR116_ENST00000456426.2_Silent_p.T656T|GPR116_ENST00000362015.4_Silent_p.T798T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	798					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGACATTAACCGTAGAGAGCA	0.393													False	0	False	6:46827246	0	T	46827246	C	T	46827246	2	4	88	1	0	0	0	0	0	0	0	1	6679	639	23	1		1	GPR116	6	46827246	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20492	46827246	124287821	7230	14942											
GPR116	221395	broad.mit.edu	37	chr6	46834846	46834846	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gttgcaatactgtatgaattCttatatctaaatatgcagtg	7	5	2	1	rs147958492	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46834846C>T	ENST00000283296.7	-	13	1938	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K	GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000265417.7_Silent_p.K550K|GPR116_ENST00000456426.2_Silent_p.K408K|GPR116_ENST00000362015.4_Silent_p.K550K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	550	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGTATGAATTCTTATATCTAA	0.413													False	0	False	6:46834846	0	T	46834846	C	T	46834846	2	4	88	1	0	0	0	0	0	0	0	1	6679	912	32	2		2	GPR116	6	46834846	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7600	46834846	124280221	7231	14943											
GPR116	221395	broad.mit.edu	37	chr6	46836688	46836688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaagatacctcctcgtgGtataaaatctttggtatatt	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46836688G>A	ENST00000283296.7	-	12	1841	c.1553C>T	c.(1552-1554)aCc>aTc	p.T518I	GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000265417.7_Missense_Mutation_p.T518I|GPR116_ENST00000456426.2_Missense_Mutation_p.T376I|GPR116_ENST00000362015.4_Missense_Mutation_p.T518I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	518	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCTCCTCGTGGTATAAAATCT	0.418													False	0	False	6:46836688	0	A	46836688	G	A	46836688	3	1	88	1	0	0	0	0	1	0	0	0	6679	1261	44	2	2527	2	GPR116	6	46836688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1842	46836688	124278379	7232	14944											
GPR116	221395	broad.mit.edu	37	chr6	46851895	46851895	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaactgcaatggtgccCtgggaggaagacgtcacgct	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46851895C>A	ENST00000283296.7	-	5	730	c.442G>T	c.(442-444)Ggg>Tgg	p.G148W	GPR116_ENST00000265417.7_Missense_Mutation_p.G148W|GPR116_ENST00000456426.2_Missense_Mutation_p.G148W|GPR116_ENST00000362015.4_Missense_Mutation_p.G148W	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	148					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CAATGGTGCCCTGGGAGGAAG	0.493													False	0	True	6:46851895	0	A	46851895	C	A	46851895	3	1	88	1	0	0	0	0	1	0	0	0	6679	681	24	3	3666	3	GPR116	6	46851895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15207	46851895	124263172	7233	14945											
GPR116	221395	broad.mit.edu	37	chr6	46856207	46856207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaactgatctcaatattaaCagtgtattcttcagccgtag	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46856207C>T	ENST00000283296.7	-	4	481	c.193G>A	c.(193-195)Gtt>Att	p.V65I	GPR116_ENST00000265417.7_Missense_Mutation_p.V65I|GPR116_ENST00000456426.2_Missense_Mutation_p.V65I|GPR116_ENST00000362015.4_Missense_Mutation_p.V65I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	65					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCAATATTAACAGTGTATTCT	0.413													False	0	False	6:46856207	0	T	46856207	C	T	46856207	3	4	88	1	0	0	0	0	1	0	0	0	6679	478	17	2	3919	2	GPR116	6	46856207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4312	46856207	124258860	7234	14946											
GPR110	266977	broad.mit.edu	37	chr6	46989795	46989795	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgaaagtgccccaaatctCtgtaggaaataaaaataagt	7	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46989795C>A	ENST00000371253.2	-	6	667		c.e6-1		GPR110_ENST00000371243.2_Splice_Site|GPR110_ENST00000449332.2_Splice_Site	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCCCAAATCTCTGTAGGAAAT	0.274													False	0	False	6:46989795	0	A	46989795	C	A	46989795	5	1	88	1	0	0	0	0	0	0	1	0	6673	927	32	3	2371	3	GPR110	6	46989795	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133588	46989795	124125272	7235	14947											
CD2AP	23607	broad.mit.edu	37	chr6	47471177	47471177	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgacaatttcgttaagGtaagtattttcagttaaatt	6	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47471177G>A	ENST00000359314.5	+	2	621		c.e2+1			NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTCGTTAAGGTAAGTATTTT	0.318													False	0	False	6:47471177	0	A	47471177	G	A	47471177	5	1	88	1	0	0	0	0	0	0	1	0	3017	1275	44	2	172	2	CD2AP	6	47471177	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	481382	47471177	123643890	7236	14948											
OPN5	221391	broad.mit.edu	37	chr6	47776030	47776030	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacttgcaaaatctgcagcGatgtacaatcccatcattta	5	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47776030G>A	ENST00000489301.2	+	5	982	c.897G>A	c.(895-897)gcG>gcA	p.A299A	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Silent_p.A299A|OPN5_ENST00000371211.2_Silent_p.A299A			Q6U736	OPN5_HUMAN	opsin 5	299					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AATCTGCAGCGATGTACAATC	0.453													False	0	False	6:47776030	0	A	47776030	G	A	47776030	2	1	88	1	0	0	0	0	0	0	0	1	10951	1045	37	1		1	OPN5	6	47776030	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	304853	47776030	123339037	7237	14949											
MUT	4594	broad.mit.edu	37	chr6	49426795	49426795	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttacattaaaatctcacCcttaatgttgtccttataga	4	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49426795C>A	ENST00000274813.3	-	2	512	c.385G>T	c.(385-387)Gct>Tct	p.A129S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	129					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAATCTCACCCTTAATGTTG	0.348													False	0	True	6:49426795	0	A	49426795	C	A	49426795	5	1	88	1	0	0	0	0	0	0	1	0	10058	637	22	3	1915	3	MUT	6	49426795	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1650765	49426795	121688272	7238	14950											
MUT	4594	broad.mit.edu	37	chr6	49427082	49427082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggctgttgctggtgtAgaagtcgttgctgtatgagc	17	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49427082A>G	ENST00000274813.3	-	2	225	c.98T>C	c.(97-99)cTa>cCa	p.L33P		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	33					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCTGGTGTAGAAGTCGTTG	0.483													False	0	False	6:49427082	0	G	49427082	A	G	49427082	3	3	88	1	0	0	0	0	1	0	0	0	10058	420	15	4	2202	4	MUT	6	49427082	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	287	49427082	121687985	7239	14951											
CRISP1	167	broad.mit.edu	37	chr6	49819742	49819742	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttgctggctggtggaActactcttctcctgagggcg	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49819742A>C	ENST00000335847.4	-	3	268	c.167T>G	c.(166-168)gTt>gGt	p.V56G	CRISP1_ENST00000505118.1_Missense_Mutation_p.V56G|CRISP1_ENST00000507853.1_Missense_Mutation_p.V56G|CRISP1_ENST00000329411.5_Missense_Mutation_p.V56G|CRISP1_ENST00000355791.2_Missense_Mutation_p.V56G|CRISP1_ENST00000536021.1_Missense_Mutation_p.V56G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	56					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGCTGGTGGAACTACTCTTCT	0.378													False	0	False	6:49819742	0	C	49819742	A	C	49819742	3	2	88	1	0	0	0	0	1	0	0	0	3902	43	2	4	606	4	CRISP1	6	49819742	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	392660	49819742	121295325	7240	14952											
TFAP2D	83741	broad.mit.edu	37	chr6	50681795	50681795	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actacctttccgggactagtCcacgatgccgaggtattatt	9	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50681795C>T	ENST00000008391.3	+	1	255	c.27C>T	c.(25-27)gtC>gtT	p.V9V		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	9							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGGGACTAGTCCACGATGCCG	0.502													False	0	False	6:50681795	0	T	50681795	C	T	50681795	2	4	88	1	0	0	0	0	0	0	0	1	15872	842	30	2		2	TFAP2D	6	50681795	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	862053	50681795	120433272	7241	14953											
TFAP2D	83741	broad.mit.edu	37	chr6	50683111	50683111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaccagcagatccaccacGgggagcccaccgactttatt	8	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50683111G>A	ENST00000008391.3	+	2	550	c.322G>A	c.(322-324)Ggg>Agg	p.G108R		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	108							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GATCCACCACGGGGAGCCCAC	0.622													False	0	True	6:50683111	0	A	50683111	G	A	50683111	3	1	88	1	0	0	0	0	1	0	0	0	15872	1116	39	1	328	1	TFAP2D	6	50683111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1316	50683111	120431956	7242	14954											
TFAP2B	7021	broad.mit.edu	37	chr6	50786656	50786656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatgctctggaagcttgtgGagaatgtcaagtacgaagat	12	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50786656G>A	ENST00000263046.4	+	1	218	c.52G>A	c.(52-54)Gag>Aag	p.E18K	TFAP2B_ENST00000393655.3_Missense_Mutation_p.E18K			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	18					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GAAGCTTGTGGAGAATGTCAA	0.483													False	0	False	6:50786656	0	A	50786656	G	A	50786656	3	1	88	1	0	0	0	0	1	0	0	0	15870	1175	41	2	54	2	TFAP2B	6	50786656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103545	50786656	120328411	7243	14955											
PKHD1	5314	broad.mit.edu	37	chr6	51491841	51491841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcccttgtgattctcgGcgtttggatgagatgtggat	15	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51491841G>A	ENST00000371117.3	-	66	12014	c.11739C>T	c.(11737-11739)cgC>cgT	p.R3913R		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3913			R -> H (in dbSNP:rs2661487).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R3913R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGATTCTCGGCGTTTGGATG	0.438													False	0	False	6:51491841	0	A	51491841	G	A	51491841	2	1	88	1	0	0	0	0	0	0	0	1	12040	1190	42	2		2	PKHD1	6	51491841	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	705185	51491841	119623226	7244	14956											
PKHD1	5314	broad.mit.edu	37	chr6	51618011	51618011	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatttacctgaaaattcttCtcggctggacttcctgaagg	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51618011C>A	ENST00000371117.3	-	57	9213	c.8938G>T	c.(8938-8940)Gaa>Taa	p.E2980*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.E2980*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2980					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAAATTCTTCTCGGCTGGAC	0.443													False	0	False	6:51618011	0	A	51618011	C	A	51618011	4	1	88	1	0	0	0	0	0	1	0	0	12040	922	32	3	3369	3	PKHD1	6	51618011	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126170	51618011	119497056	7245	14957											
PKHD1	5314	broad.mit.edu	37	chr6	51771115	51771115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctactgaaggagttcctcaCtgtgcagccctgtatgaaag	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51771115C>T	ENST00000371117.3	-	41	6981	c.6706G>A	c.(6706-6708)Gtg>Atg	p.V2236M	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2236					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGTTCCTCACTGTGCAGCCC	0.438													False	0	False	6:51771115	0	T	51771115	C	T	51771115	3	4	88	1	0	0	0	0	1	0	0	0	12040	565	20	2	5665	2	PKHD1	6	51771115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153104	51771115	119343952	7246	14958											
PKHD1	5314	broad.mit.edu	37	chr6	51900516	51900516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcggatggtggcccagagcCctcctgtaacaaaaacagca	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51900516C>A	ENST00000371117.3	-	28	3376	c.3101G>T	c.(3100-3102)gGg>gTg	p.G1034V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1034V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1034	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCCCAGAGCCCTCCTGTAAC	0.398													False	0	True	6:51900516	0	A	51900516	C	A	51900516	3	1	88	1	0	0	0	0	1	0	0	0	12040	623	22	3	9322	3	PKHD1	6	51900516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129401	51900516	119214551	7247	14959											
PKHD1	5314	broad.mit.edu	37	chr6	51944773	51944773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaagtatgcttccaggaaGtacagaccctcatgtgcttc	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51944773G>A	ENST00000371117.3	-	5	590	c.315C>T	c.(313-315)taC>taT	p.Y105Y	PKHD1_ENST00000340994.4_Silent_p.Y105Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	105	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTCCAGGAAGTACAGACCCT	0.483													False	0	False	6:51944773	0	A	51944773	G	A	51944773	2	1	88	1	0	0	0	0	0	0	0	1	12040	1024	36	2		2	PKHD1	6	51944773	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44257	51944773	119170294	7248	14960											
MCM3	4172	broad.mit.edu	37	chr6	52132686	52132686	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcttctgctcctggtcCtcttggcttttctcctcttc	5	16	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52132686C>A	ENST00000596288.1	-	14	2211	c.2184G>T	c.(2182-2184)gaG>gaT	p.E728D	MCM3_ENST00000229854.7_Missense_Mutation_p.E683D|MCM3_ENST00000419835.2_Missense_Mutation_p.E637D	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	683					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					gctcctggtcctcttggcttt	0.468													False	0	False	6:52132686	0	A	52132686	C	A	52132686	3	1	88	1	0	0	0	0	1	0	0	0	9454	680	24	3	393	3	MCM3	6	52132686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187913	52132686	118982381	7249	14961											
MCM3	4172	broad.mit.edu	37	chr6	52141118	52141118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcagcgggcattcagcCgagcatggatgccagccttg	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52141118C>T	ENST00000596288.1	-	9	1484	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	MCM3_ENST00000229854.7_Missense_Mutation_p.R441Q|MCM3_ENST00000419835.2_Missense_Mutation_p.R395Q|MCM3_ENST00000476448.1_5'UTR	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	441	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGCATTCAGCCGAGCATGGAT	0.517													False	0	False	6:52141118	0	T	52141118	C	T	52141118	3	4	88	1	0	0	0	0	1	0	0	0	9454	652	23	1	1140	1	MCM3	6	52141118	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8432	52141118	118973949	7250	14962											
MCM3	4172	broad.mit.edu	37	chr6	52147572	52147572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtagaactcctcatactgCttggcataggtagcatcaat	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52147572C>A	ENST00000596288.1	-	3	441	c.414G>T	c.(412-414)aaG>aaT	p.K138N	MCM3_ENST00000229854.7_Missense_Mutation_p.K93N|MCM3_ENST00000419835.2_Missense_Mutation_p.K47N	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	93					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCTCATACTGCTTGGCATAGG	0.532													False	0	False	6:52147572	0	A	52147572	C	A	52147572	3	1	88	1	0	0	0	0	1	0	0	0	9454	796	28	3	2207	3	MCM3	6	52147572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6454	52147572	118967495	7251	14963											
MCM3	4172	broad.mit.edu	37	chr6	52148176	52148176	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactgatcagctcccgaActttgctctgataaattccc	6	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52148176A>G	ENST00000596288.1	-	2	269	c.242T>C	c.(241-243)gTt>gCt	p.V81A	MCM3_ENST00000229854.7_Missense_Mutation_p.V36A|MCM3_ENST00000419835.2_Intron	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	36					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CAGCTCCCGAACTTTGCTCTG	0.453													False	0	False	6:52148176	0	G	52148176	A	G	52148176	3	3	88	1	0	0	0	0	1	0	0	0	9454	43	2	4	2383	4	MCM3	6	52148176	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	604	52148176	118966891	7252	14964											
PAQR8	85315	broad.mit.edu	37	chr6	52268034	52268034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgaccgccatcttggagcGcctgagcaccctgtcggtca	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268034G>A	ENST00000442253.2	+	2	197	c.23G>A	c.(22-24)cGc>cAc	p.R8H	PAQR8_ENST00000360726.3_Missense_Mutation_p.R8H	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	8					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.R8H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					ATCTTGGAGCGCCTGAGCACC	0.622													False	0	False	6:52268034	0	A	52268034	G	A	52268034	3	1	88	1	0	0	0	0	1	0	0	0	11509	1087	38	1	25	1	PAQR8	6	52268034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119858	52268034	118847033	7253	14965											
PAQR8	85315	broad.mit.edu	37	chr6	52268422	52268422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcagtccaagtcagaGctctcccactacaccttcta	6	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268422G>A	ENST00000442253.2	+	2	585	c.411G>A	c.(409-411)gaG>gaA	p.E137E	PAQR8_ENST00000360726.3_Silent_p.E137E	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	137					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCAAGTCAGAGCTCTCCCACT	0.542													False	0	False	6:52268422	0	A	52268422	G	A	52268422	2	1	88	1	0	0	0	0	0	0	0	1	11509	962	34	2		2	PAQR8	6	52268422	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	388	52268422	118846645	7254	14966											
PAQR8	85315	broad.mit.edu	37	chr6	52268953	52268953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagatcttcctgcagcgCcatggacccctatctgtcca	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268953C>T	ENST00000442253.2	+	2	1116	c.942C>T	c.(940-942)cgC>cgT	p.R314R	PAQR8_ENST00000360726.3_Silent_p.R314R	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	314					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCTGCAGCGCCATGGACCCC	0.597													False	0	False	6:52268953	0	T	52268953	C	T	52268953	2	4	88	1	0	0	0	0	0	0	0	1	11509	726	26	2		2	PAQR8	6	52268953	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	531	52268953	118846114	7255	14967											
EFHC1	114327	broad.mit.edu	37	chr6	52288769	52288769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttccacagaagtcagaCgctgagctacaggaacggct	11	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52288769C>T	ENST00000371068.5	+	2	192	c.89C>T	c.(88-90)aCg>aTg	p.T30M	EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Missense_Mutation_p.T11M|EFHC1_ENST00000433625.2_5'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	30						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGAAGTCAGACGCTGAGCTAC	0.423													False	0	False	6:52288769	0	T	52288769	C	T	52288769	3	4	88	1	0	0	0	0	1	0	0	0	4976	536	19	1	105	1	EFHC1	6	52288769	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19816	52288769	118826298	7256	14968											
EFHC1	114327	broad.mit.edu	37	chr6	52343868	52343868	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagaagacaaagaccgcagaTttgtcttctcttactttcta	6	10	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52343868T>A	ENST00000371068.5	+	8	1415	c.1312T>A	c.(1312-1314)Ttt>Att	p.F438I	EFHC1_ENST00000538167.1_Missense_Mutation_p.F419I|EFHC1_ENST00000433625.2_Missense_Mutation_p.F347I	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	438	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGACCGCAGATTTGTCTTCTC	0.438													False	0	True	6:52343868	0	A	52343868	T	A	52343868	3	1	88	1	0	0	0	0	1	0	0	0	4976	1493	52	5	1352	5	EFHC1	6	52343868	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55099	52343868	118771199	7257	14969											
EFHC1	114327	broad.mit.edu	37	chr6	52354937	52354937	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttccttcctttctctacaGcaagcaaactgaaaaggatc	5	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52354937G>T	ENST00000371068.5	+	10	1743		c.e10-1		EFHC1_ENST00000538167.1_Splice_Site|EFHC1_ENST00000433625.2_Splice_Site	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1							axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TTTCTCTACAGCAAGCAAACT	0.403													False	0	True	6:52354937	0	T	52354937	G	T	52354937	5	4	88	1	0	0	0	0	0	0	1	0	4976	985	34	3	1688	3	EFHC1	6	52354937	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11069	52354937	118760130	7258	14970											
GSTA2	2939	broad.mit.edu	37	chr6	52617718	52617718	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaagcttggcatcttgTtcctcaggttgactaaaggg	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52617718T>C	ENST00000493422.1	-	5	503	c.348A>G	c.(346-348)gaA>gaG	p.E116E		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	116	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	TGGCATCTTGTTCCTCAGGTT	0.398													False	0	False	6:52617718	0	C	52617718	T	C	52617718	2	2	88	1	0	0	0	0	0	0	0	1	6878	1722	60	4		4	GSTA2	6	52617718	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	262781	52617718	118497349	7259	14971											
GSTA2	2939	broad.mit.edu	37	chr6	52622688	52622688	+	Missense_Mutation	SNP	G	G	A													agctgcagccaggagccaccGgatggactccattctgcccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52622688G>A	ENST00000493422.1	-	2	213	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	20	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	AGGAGCCACCGGATGGACTCC	0.488													False	0	False	6:52622688	0	A	52622688	G	A	52622688	3	1	88	1	0	0	0	0	1	0	0	0	6878	1115	39	1	634	1	GSTA2	6	52622688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4970	52622688	118492379	7260	14972	190	2									
GSTA2	2939	broad.mit.edu	37	chr6	52622689	52622689	+	Silent	SNP	G	G	A													gctgcagccaggagccaccgGatggactccattctgccccg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52622689G>A	ENST00000493422.1	-	2	212	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	19	GST N-terminal.			I -> T (in Ref. 6; AA sequence).	glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GGAGCCACCGGATGGACTCCA	0.488													False	0	False	6:52622689	0	A	52622689	G	A	52622689	2	1	88	1	0	0	0	0	0	0	0	1	6878	1164	41	2		2	GSTA2	6	52622689	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	52622689	118492378	7261	14973	190	2									
GSTA5	221357	broad.mit.edu	37	chr6	52699025	52699025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctctggttgacatatgaGcagaagaaggatcatttcag	10	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52699025G>T	ENST00000370989.2	-	4	357	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	GSTA5_ENST00000284562.2_Missense_Mutation_p.L110I|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5		GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGACATATGAGCAGAAGAAGG	0.383													False	0	False	6:52699025	0	T	52699025	G	T	52699025	3	4	88	1	0	0	0	0	1	0	0	0	6881	971	34	3	352	3	GSTA5	6	52699025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76336	52699025	118416042	7262	14974											
GSTA5	221357	broad.mit.edu	37	chr6	52701122	52701122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgcaccagcttcatccCgtcaatctcaaccattggta	7	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52701122C>T	ENST00000370989.2	-	3	213	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	GSTA5_ENST00000284562.2_Missense_Mutation_p.G62R|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5		GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	AGCTTCATCCCGTCAATCTCA	0.423													False	0	True	6:52701122	0	T	52701122	C	T	52701122	3	4	88	1	0	0	0	0	1	0	0	0	6881	652	23	1	500	1	GSTA5	6	52701122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2097	52701122	118413945	7263	14975											
GSTA3	2940	broad.mit.edu	37	chr6	52770568	52770568	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactccagctgcagccaagAgccaccggatgggctccatt	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52770568A>C	ENST00000211122.3	-	2	130	c.65T>G	c.(64-66)cTc>cGc	p.L22R	GSTA3_ENST00000370968.1_Intron	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	22	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGCAGCCAAGAGCCACCGGAT	0.448													False	0	False	6:52770568	0	C	52770568	A	C	52770568	3	2	88	1	0	0	0	0	1	0	0	0	6879	304	11	4	627	4	GSTA3	6	52770568	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69446	52770568	118344499	7264	14976											
GSTA4	2941	broad.mit.edu	37	chr6	52847504	52847504	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtccgtgaccccttaaaatCtgtagggaaatggtgtgcat	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52847504C>T	ENST00000541324.1	-	4	401		c.e4-1		GSTA4_ENST00000370960.1_Splice_Site|GSTA4_ENST00000486559.1_Splice_Site|GSTA4_ENST00000370959.1_Splice_Site			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4						glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CCCTTAAAATCTGTAGGGAAA	0.408													False	0	False	6:52847504	0	T	52847504	C	T	52847504	5	4	88	1	0	0	0	0	0	0	1	0	6880	927	32	2	262	2	GSTA4	6	52847504	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76936	52847504	118267563	7265	14977											
ICK	22858	broad.mit.edu	37	chr6	52895864	52895864	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacactccgaatcacctaccGtgtttgtgaataaatgcgag	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52895864G>A	ENST00000356971.3	-	6	846	c.357C>T	c.(355-357)caC>caT	p.H119H	ICK_ENST00000350082.5_Splice_Site_p.H119H	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	119	Protein kinase.			H -> L (in Ref. 1; AAF37278).	intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					ATCACCTACCGTGTTTGTGAA	0.368													False	0	False	6:52895864	0	A	52895864	G	A	52895864	5	1	88	1	0	0	0	0	0	0	1	0	7534	1159	40	1	1581	1	ICK	6	52895864	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48360	52895864	118219203	7266	14978											
GCM1	8521	broad.mit.edu	37	chr6	52995599	52995599	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatacataatgaaggattAccctggtctctgtgctcccc	7	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52995599A>G	ENST00000259803.7	-	5	782		c.e5+1			NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)							transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					ATGAAGGATTACCCTGGTCTC	0.512													False	0	True	6:52995599	0	G	52995599	A	G	52995599	5	3	88	1	0	0	0	0	0	0	1	0	6340	405	14	4	746	4	GCM1	6	52995599	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	99735	52995599	118119468	7267	14979											
GCM1	8521	broad.mit.edu	37	chr6	52995674	52995674	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcactttcttcatggctcttCttgcctcagcttctaacttg	5	13	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52995674C>A	ENST00000259803.7	-	5	708	c.497G>T	c.(496-498)aGa>aTa	p.R166I		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	166						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CATGGCTCTTCTTGCCTCAGC	0.423													False	0	False	6:52995674	0	A	52995674	C	A	52995674	3	1	88	1	0	0	0	0	1	0	0	0	6340	913	32	3	821	3	GCM1	6	52995674	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75	52995674	118119393	7268	14980											
GCM1	8521	broad.mit.edu	37	chr6	53010408	53010408	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaatatctctttgtcttcaGaatcaaagtcgtcaggttcc	6	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53010408G>T	ENST00000259803.7	-	2	234	c.23C>A	c.(22-24)tCt>tAt	p.S8Y		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	8						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTTGTCTTCAGAATCAAAGTC	0.413													False	0	False	6:53010408	0	T	53010408	G	T	53010408	3	4	88	1	0	0	0	0	1	0	0	0	6340	942	33	3	1307	3	GCM1	6	53010408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14734	53010408	118104659	7269	14981											
GCLC	2729	broad.mit.edu	37	chr6	53370601	53370601	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgatgcatgtgtcttacCtccatgggtcgaaattctac	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53370601C>A	ENST00000229416.6	-	11	1773	c.1290G>T	c.(1288-1290)gaG>gaT	p.E430D	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	430					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	TGTGTCTTACCTCCATGGGTC	0.423													False	0	False	6:53370601	0	A	53370601	C	A	53370601	5	1	88	1	0	0	0	0	0	0	1	0	6338	695	24	3	647	3	GCLC	6	53370601	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	360193	53370601	117744466	7270	14982											
KLHL31	401265	broad.mit.edu	37	chr6	53519407	53519407	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggcaactgtaagtcatcatCtataagaagttcattaattt	6	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53519407C>A	ENST00000370905.3	-	2	804	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	KLHL31_ENST00000407079.1_Missense_Mutation_p.D222Y	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	222	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AAGTCATCATCTATAAGAAGT	0.348													False	0	False	6:53519407	0	A	53519407	C	A	53519407	3	1	88	1	0	0	0	0	1	0	0	0	8435	913	32	3	1248	3	KLHL31	6	53519407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148806	53519407	117595660	7271	14983											
KLHL31	401265	broad.mit.edu	37	chr6	53519553	53519553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatattaacaacatacAtgcaattctcaacactcatc	2	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53519553A>G	ENST00000370905.3	-	2	658	c.518T>C	c.(517-519)aTg>aCg	p.M173T	KLHL31_ENST00000407079.1_Missense_Mutation_p.M173T	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	173	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AACAACATACATGCAATTCTC	0.368													False	0	True	6:53519553	0	G	53519553	A	G	53519553	3	3	88	1	0	0	0	0	1	0	0	0	8435	217	8	4	1394	4	KLHL31	6	53519553	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	146	53519553	117595514	7272	14984											
TINAG	27283	broad.mit.edu	37	chr6	54173411	54173411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaaatctggatggagaaGcagtatttatctcaaagaga	10	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54173411G>A	ENST00000259782.4	+	1	159	c.63G>A	c.(61-63)aaG>aaA	p.K21K	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Silent_p.K17K|TINAG_ENST00000370864.3_Silent_p.K3K	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	21					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGATGGAGAAGCAGTATTTAT	0.403													False	0	False	6:54173411	0	A	54173411	G	A	54173411	2	1	88	1	0	0	0	0	0	0	0	1	16003	962	34	2		2	TINAG	6	54173411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	653858	54173411	116941656	7273	14985											
TINAG	27283	broad.mit.edu	37	chr6	54173618	54173618	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gataaattctgtgacagagaAaattctgattgctgtcctga	9	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54173618A>C	ENST00000259782.4	+	1	366	c.270A>C	c.(268-270)gaA>gaC	p.E90D	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Missense_Mutation_p.E86D|TINAG_ENST00000370864.3_Missense_Mutation_p.E72D	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	90	SMB.				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GTGACAGAGAAAATTCTGATT	0.453													False	0	True	6:54173618	0	C	54173618	A	C	54173618	3	2	88	1	0	0	0	0	1	0	0	0	16003	11	1	4	272	4	TINAG	6	54173618	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	207	54173618	116941449	7274	14986											
TINAG	27283	broad.mit.edu	37	chr6	54219400	54219400	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataaagaatcagaaaaatatCgaaagcttcagacacatgca	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54219400C>T	ENST00000259782.4	+	9	1312	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	406					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGAAAAATATCGAAAGCTTCA	0.318													False	0	False	6:54219400	0	T	54219400	C	T	54219400	4	4	88	1	0	0	0	0	0	1	0	0	16003	876	31	1	1250	1	TINAG	6	54219400	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45782	54219400	116895667	7275	14987											
FAM83B	222584	broad.mit.edu	37	chr6	54735119	54735119	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacattgagcctcactacaaGgaatggtatcgagtagccat	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54735119G>T	ENST00000306858.7	+	2	191	c.75G>T	c.(73-75)aaG>aaT	p.K25N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	25								p.K25N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTCACTACAAGGAATGGTATC	0.423													False	0	False	6:54735119	0	T	54735119	G	T	54735119	3	4	88	1	0	0	0	0	1	0	0	0	5674	991	35	3	77	3	FAM83B	6	54735119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	515719	54735119	116379948	7276	14988											
FAM83B	222584	broad.mit.edu	37	chr6	54805024	54805024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctggtaattggaaaaagCcatctgatagtctcagtgtg	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54805024C>T	ENST00000306858.7	+	5	1371	c.1255C>T	c.(1255-1257)Cca>Tca	p.P419S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	419										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGGAAAAAGCCATCTGATAG	0.488													False	0	False	6:54805024	0	T	54805024	C	T	54805024	3	4	88	1	0	0	0	0	1	0	0	0	5674	739	26	2	1269	2	FAM83B	6	54805024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69905	54805024	116310043	7277	14989											
FAM83B	222584	broad.mit.edu	37	chr6	54805335	54805335	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaggtgaccgatttgagggCtatgataatcctgagaattt	11	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54805335C>A	ENST00000306858.7	+	5	1682	c.1566C>A	c.(1564-1566)ggC>ggA	p.G522G		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	522										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GATTTGAGGGCTATGATAATC	0.408													False	0	True	6:54805335	0	A	54805335	C	A	54805335	2	1	88	1	0	0	0	0	0	0	0	1	5674	784	28	3		3	FAM83B	6	54805335	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	311	54805335	116309732	7278	14990											
HCRTR2	3062	broad.mit.edu	37	chr6	55128552	55128552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttctttctggtgacaTacatggcaccactgtgtctc	8	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55128552T>C	ENST00000370862.3	+	4	1030	c.694T>C	c.(694-696)Tac>Cac	p.Y232H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	232					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCTGGTGACATACATGGCACC	0.373													False	0	True	6:55128552	0	C	55128552	T	C	55128552	3	2	88	1	0	0	0	0	1	0	0	0	7049	1406	49	4	708	4	HCRTR2	6	55128552	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	323217	55128552	115986515	7279	14991											
GFRAL	389400	broad.mit.edu	37	chr6	55216312	55216312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcacagcaagacatgtgCagtgaacatggttccacccc	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55216312C>T	ENST00000340465.2	+	5	718	c.632C>T	c.(631-633)gCa>gTa	p.A211V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	211						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGACATGTGCAGTGAACATG	0.428													False	0	False	6:55216312	0	T	55216312	C	T	55216312	3	4	88	1	0	0	0	0	1	0	0	0	6396	710	25	2	650	2	GFRAL	6	55216312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87760	55216312	115898755	7280	14992											
HMGCLL1	54511	broad.mit.edu	37	chr6	55304313	55304313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttttgcataagggcaGccacctaatccggatactgc	9	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55304313G>A	ENST00000398661.2	-	9	1061	c.930C>T	c.(928-930)ggC>ggT	p.G310G	HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000274901.4_Silent_p.G280G|HMGCLL1_ENST00000370850.2_Silent_p.G177G|HMGCLL1_ENST00000308161.4_Silent_p.G248G|HMGCLL1_ENST00000508459.1_Silent_p.G114G	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	310							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATAAGGGCAGCCACCTAATC	0.423													False	0	False	6:55304313	0	A	55304313	G	A	55304313	2	1	88	1	0	0	0	0	0	0	0	1	7277	958	34	2		2	HMGCLL1	6	55304313	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88001	55304313	115810754	7281	14993											
BMP5	653	broad.mit.edu	37	chr6	55739599	55739599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacctccttttgcataacccActagaacccagcagctccag	5	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55739599A>G	ENST00000370830.3	-	1	763	c.65T>C	c.(64-66)gTg>gCg	p.V22A	BMP5_ENST00000446683.2_Missense_Mutation_p.V22A	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	22					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGCATAACCCACTAGAACCCA	0.388													False	0	True	6:55739599	0	G	55739599	A	G	55739599	3	3	88	1	0	0	0	0	1	0	0	0	1468	159	6	4	1327	4	BMP5	6	55739599	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	435286	55739599	115375468	7282	14994											
COL21A1	0	broad.mit.edu	37	chr6	55922469	55922469	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagacactaatagtttggtcCttttctgaacggatctcttc	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55922469C>A	ENST00000244728.5	-	30	3257	c.2860G>T	c.(2860-2862)Gga>Tga	p.G954*	COL21A1_ENST00000370819.1_Nonsense_Mutation_p.G951*|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.G954*|COL21A1_ENST00000370808.2_Nonsense_Mutation_p.G320*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	954					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TAGTTTGGTCCTTTTCTGAAC	0.473													False	0	True	6:55922469	0	A	55922469	C	A	55922469	4	1	88	1	0	0	0	0	0	1	0	0	3703	690	24	3	17	3	COL21A1	6	55922469	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182870	55922469	115192598	7283	14995											
COL21A1	0	broad.mit.edu	37	chr6	56035650	56035650	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atatgatggaggaagaccttCtgggaaaacattgctagaaa	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56035650C>T	ENST00000244728.5	-	5	1220	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	COL21A1_ENST00000370819.1_Missense_Mutation_p.E275K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E275K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	275	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGAAGACCTTCTGGGAAAACA	0.348													False	0	False	6:56035650	0	T	56035650	C	T	56035650	3	4	88	1	0	0	0	0	1	0	0	0	3703	922	32	2	2154	2	COL21A1	6	56035650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113181	56035650	115079417	7284	14996											
COL21A1	0	broad.mit.edu	37	chr6	56035927	56035927	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgtgttggacagacagattCtataaagcaaaagcaataaa	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56035927C>A	ENST00000244728.5	-	4	1038		c.e4-1		COL21A1_ENST00000370819.1_Splice_Site|COL21A1_ENST00000535941.1_Splice_Site	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CAGACAGATTCTATAAAGCAA	0.303													False	0	False	6:56035927	0	A	56035927	C	A	56035927	5	1	88	1	0	0	0	0	0	0	1	0	3703	927	32	3	2341	3	COL21A1	6	56035927	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	277	56035927	115079140	7285	14997											
DST	667	broad.mit.edu	37	chr6	56342199	56342199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttaatggtagtgatggagtCggggtggcagatagccaaaa	15	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56342199C>T	ENST00000370754.5	-	91	21525	c.21526G>A	c.(21526-21528)Gac>Aac	p.D7176N	DST_ENST00000370769.4_Missense_Mutation_p.D6998N|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.D4910N|DST_ENST00000244364.6_Missense_Mutation_p.D4584N|DST_ENST00000361203.3_Missense_Mutation_p.D6887N|DST_ENST00000446842.2_Missense_Mutation_p.D6672N|DST_ENST00000370788.2_Missense_Mutation_p.D4801N			Q03001	DYST_HUMAN	dystonin	6996					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTGATGGAGTCGGGGTGGCAG	0.458													False	0	True	6:56342199	0	T	56342199	C	T	56342199	3	4	88	1	0	0	0	0	1	0	0	0	4813	884	31	1	1817	1	DST	6	56342199	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	306272	56342199	114772868	7286	14998											
DST	667	broad.mit.edu	37	chr6	56394248	56394248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaaataaatcaaaatacccGaagttcagactgctgcttcc	5	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56394248G>A	ENST00000370754.5	-	66	17499	c.17500C>T	c.(17500-17502)Cgg>Tgg	p.R5834W	DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Missense_Mutation_p.R5656W|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.R3568W|DST_ENST00000244364.6_Missense_Mutation_p.R3242W|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Missense_Mutation_p.R5330W|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	5654					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			caaaataCCCGAAGTTCAGAC	0.348													False	0	True	6:56394248	0	A	56394248	G	A	56394248	3	1	88	1	0	0	0	0	1	0	0	0	4813	1057	37	1	5943	1	DST	6	56394248	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52049	56394248	114720819	7287	14999											
DST	667	broad.mit.edu	37	chr6	56417657	56417657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtttgcaacatggtcagGtatttgttactgtaagcctg	11	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56417657G>A	ENST00000370754.5	-	61	15839	c.15840C>T	c.(15838-15840)taC>taT	p.Y5280Y	DST_ENST00000370769.4_Silent_p.Y5102Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.Y3014Y|DST_ENST00000244364.6_Silent_p.Y2688Y|DST_ENST00000361203.3_Silent_p.Y5100Y|DST_ENST00000446842.2_Silent_p.Y4776Y|DST_ENST00000370788.2_Silent_p.Y3014Y			Q03001	DYST_HUMAN	dystonin	5100					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATGGTCAGGTATTTGTTAC	0.453													False	0	False	6:56417657	0	A	56417657	G	A	56417657	2	1	88	1	0	0	0	0	0	0	0	1	4813	1256	44	2		2	DST	6	56417657	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23409	56417657	114697410	7288	15000											
DST	667	broad.mit.edu	37	chr6	56468647	56468647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caacttacttgttcggttgaGctatctccagaagccatctc	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56468647G>T	ENST00000370754.5	-	39	10679	c.10680C>A	c.(10678-10680)agC>agA	p.S3560R	DST_ENST00000370769.4_Missense_Mutation_p.S3382R|DST_ENST00000312431.6_Missense_Mutation_p.S3382R|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.S3382R|DST_ENST00000446842.2_Missense_Mutation_p.S3056R|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	3382					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTCGGTTGAGCTATCTCCAG	0.383													False	0	False	6:56468647	0	T	56468647	G	T	56468647	3	4	88	1	0	0	0	0	1	0	0	0	4813	986	34	3		3	DST	6	56468647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50990	56468647	114646420	7289	15001											
DST	667	broad.mit.edu	37	chr6	56472155	56472155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcaaagataggtgaatccCtgtttgtattatcttcattc	7	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56472155C>A	ENST00000370754.5	-	39	7171	c.7172G>T	c.(7171-7173)aGg>aTg	p.R2391M	DST_ENST00000370769.4_Missense_Mutation_p.R2213M|DST_ENST00000312431.6_Missense_Mutation_p.R2213M|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.R2213M|DST_ENST00000446842.2_Missense_Mutation_p.R1887M|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2213					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTGAATCCCTGTTTGTATT	0.348													False	0	True	6:56472155	0	A	56472155	C	A	56472155	3	1	88	1	0	0	0	0	1	0	0	0	4813	696	24	3		3	DST	6	56472155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3508	56472155	114642912	7290	15002											
DST	667	broad.mit.edu	37	chr6	56472399	56472399	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgtgttaaatatgatatgaGactgggaacacacacactgg	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56472399G>A	ENST00000370754.5	-	39	6927	c.6928C>T	c.(6928-6930)Ctc>Ttc	p.L2310F	DST_ENST00000370769.4_Missense_Mutation_p.L2132F|DST_ENST00000312431.6_Missense_Mutation_p.L2132F|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.L2132F|DST_ENST00000446842.2_Missense_Mutation_p.L1806F|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2132					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGATATGAGACTGGGAACA	0.363													False	0	False	6:56472399	0	A	56472399	G	A	56472399	3	1	88	1	0	0	0	0	1	0	0	0	4813	957	33	2		2	DST	6	56472399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244	56472399	114642668	7291	15003											
DST	667	broad.mit.edu	37	chr6	56473301	56473301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcgtctacagttaaaCgcttggcagggtttgactgg	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56473301C>T	ENST00000370754.5	-	39	6025	c.6026G>A	c.(6025-6027)cGt>cAt	p.R2009H	DST_ENST00000370769.4_Missense_Mutation_p.R1831H|DST_ENST00000312431.6_Missense_Mutation_p.R1831H|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.R1831H|DST_ENST00000446842.2_Missense_Mutation_p.R1505H|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	1831					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACAGTTAAACGCTTGGCAGG	0.488													False	0	True	6:56473301	0	T	56473301	C	T	56473301	3	4	88	1	0	0	0	0	1	0	0	0	4813	551	19	1		1	DST	6	56473301	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	902	56473301	114641766	7292	15004											
DST	667	broad.mit.edu	37	chr6	56473918	56473919	+	In_Frame_Ins	INS	-	-	GGAAAGGCAAAA													ccttagctttacttagttctINSttgagttggcacagaatttg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56473918_56473919insGGAAAGGCAAAA	ENST00000361203.3	-	36	4881_4882	c.4874_4875insTTTTGCCTTTCC	c.(4873-4875)aaa>aaTTTTGCCTTTCCa	p.1625_1625K>NFAFP	DST_ENST00000312431.6_In_Frame_Ins_p.1625_1625K>NFAFP|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_In_Frame_Ins_p.1803_1803K>NFAFP|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_In_Frame_Ins_p.1625_1625K>NFAFP|DST_ENST00000446842.2_In_Frame_Ins_p.1299_1299K>NFAFP|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	1625					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACTTAGTTCTTTGAGTTGGCA	0.391													False	0	True	6:56473918	0	GGAAAGGCAAAA	56473919	-	GGAAAGGCAAAA	56473918	7	5	88	1	0	1	1	0	0	0	0	0	4813	1624	56	0		0	DST	6	56473918	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	617	56473918	114641149	7293	15005											
DST	667	broad.mit.edu	37	chr6	56483562	56483562	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actccattaatttttccatcTtcttccgaaactcctctgct	2	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56483562T>G	ENST00000370765.6	-	23	5377	c.5270A>C	c.(5269-5271)aAg>aCg	p.K1757T	DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1149					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTTCCATCTTCTTCCGAAA	0.393													False	0	False	6:56483562	0	G	56483562	T	G	56483562	3	3	88	1	0	0	0	0	1	0	0	0	4813	1609	56	4	15133	4	DST	6	56483562	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9644	56483562	114631505	7294	15006											
DST	667	broad.mit.edu	37	chr6	56484401	56484401	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtttccctttttcatgAttaagagattctaattctaa	5	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56484401A>G	ENST00000370765.6	-	23	4538	c.4431T>C	c.(4429-4431)aaT>aaC	p.N1477N	DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5149					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTTTTCATGATTAAGAGATT	0.343													False	0	False	6:56484401	0	G	56484401	A	G	56484401	2	3	88	1	0	0	0	0	0	0	0	1	4813	330	12	4		4	DST	6	56484401	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	839	56484401	114630666	7295	15007											
DST	667	broad.mit.edu	37	chr6	56492082	56492082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttctatttcggacaccaGcatctataaatatacacagt	4	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56492082G>A	ENST00000370754.5	-	33	4542	c.4543C>T	c.(4543-4545)Ctg>Ttg	p.L1515L	DST_ENST00000370769.4_Silent_p.L1337L|DST_ENST00000312431.6_Silent_p.L1337L|DST_ENST00000518935.1_Silent_p.L1011L|DST_ENST00000421834.2_Silent_p.L1337L|DST_ENST00000244364.6_Silent_p.L1011L|DST_ENST00000361203.3_Silent_p.L1337L|DST_ENST00000370765.6_Silent_p.L1011L|DST_ENST00000446842.2_Silent_p.L1011L|DST_ENST00000370788.2_Silent_p.L1337L			Q03001	DYST_HUMAN	dystonin	1337					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCGGACACCAGCATCTATAAA	0.348													False	0	False	6:56492082	0	A	56492082	G	A	56492082	2	1	88	1	0	0	0	0	0	0	0	1	4813	962	34	2		2	DST	6	56492082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7681	56492082	114622985	7296	15008											
DST	667	broad.mit.edu	37	chr6	56494123	56494123	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctttgtgccagtcaaaaTcaaggtcccgttctttatac	6	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56494123T>G	ENST00000370754.5	-	31	4300	c.4301A>C	c.(4300-4302)gAt>gCt	p.D1434A	DST_ENST00000370769.4_Missense_Mutation_p.D1256A|DST_ENST00000312431.6_Missense_Mutation_p.D1256A|DST_ENST00000518935.1_Missense_Mutation_p.D930A|DST_ENST00000421834.2_Missense_Mutation_p.D1256A|DST_ENST00000244364.6_Missense_Mutation_p.D930A|DST_ENST00000361203.3_Missense_Mutation_p.D1256A|DST_ENST00000370765.6_Missense_Mutation_p.D930A|DST_ENST00000446842.2_Missense_Mutation_p.D930A|DST_ENST00000370788.2_Missense_Mutation_p.D1256A			Q03001	DYST_HUMAN	dystonin	1256					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCAGTCAAAATCAAGGTCCCG	0.373													False	0	True	6:56494123	0	G	56494123	T	G	56494123	3	3	88	1	0	0	0	0	1	0	0	0	4813	1435	50	4	17634	4	DST	6	56494123	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2041	56494123	114620944	7297	15009											
DST	667	broad.mit.edu	37	chr6	56498955	56498955	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccacattgctagctcgaattCtatcaatttcattgatgaga	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56498955C>T	ENST00000370754.5	-	26	3496	c.3497G>A	c.(3496-3498)aGa>aAa	p.R1166K	DST_ENST00000370769.4_Missense_Mutation_p.R988K|DST_ENST00000312431.6_Missense_Mutation_p.R988K|DST_ENST00000518935.1_Missense_Mutation_p.R662K|DST_ENST00000421834.2_Missense_Mutation_p.R988K|DST_ENST00000244364.6_Missense_Mutation_p.R662K|DST_ENST00000361203.3_Missense_Mutation_p.R988K|DST_ENST00000370765.6_Missense_Mutation_p.R662K|DST_ENST00000446842.2_Missense_Mutation_p.R662K|DST_ENST00000370788.2_Missense_Mutation_p.R988K			Q03001	DYST_HUMAN	dystonin	988					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTCGAATTCTATCAATTTC	0.378													False	0	False	6:56498955	0	T	56498955	C	T	56498955	3	4	88	1	0	0	0	0	1	0	0	0	4813	913	32	2	18458	2	DST	6	56498955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4832	56498955	114616112	7298	15010											
DST	667	broad.mit.edu	37	chr6	56500405	56500405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accattgattcctgaacaagGtcttctagcttgtgaatgct	8	9	2	3	rs147124522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56500405G>A	ENST00000370754.5	-	23	3068	c.3069C>T	c.(3067-3069)gaC>gaT	p.D1023D	DST_ENST00000370769.4_Silent_p.D845D|DST_ENST00000312431.6_Silent_p.D845D|DST_ENST00000518935.1_Silent_p.D519D|DST_ENST00000421834.2_Silent_p.D845D|DST_ENST00000244364.6_Silent_p.D519D|DST_ENST00000361203.3_Silent_p.D845D|DST_ENST00000370765.6_Silent_p.D519D|DST_ENST00000446842.2_Silent_p.D519D|DST_ENST00000370788.2_Silent_p.D845D			Q03001	DYST_HUMAN	dystonin	845					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTGAACAAGGTCTTCTAGCT	0.343													False	0	False	6:56500405	0	A	56500405	G	A	56500405	2	1	88	1	0	0	0	0	0	0	0	1	4813	1252	44	2		2	DST	6	56500405	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1450	56500405	114614662	7299	15011											
DST	667	broad.mit.edu	37	chr6	56504351	56504351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaataagttcattagtcGcacgacttacaaaattatgg	6	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56504351G>A	ENST00000370754.5	-	20	2656	c.2657C>T	c.(2656-2658)gCg>gTg	p.A886V	DST_ENST00000370769.4_Missense_Mutation_p.A708V|DST_ENST00000312431.6_Missense_Mutation_p.A708V|DST_ENST00000518935.1_Missense_Mutation_p.A382V|DST_ENST00000421834.2_Missense_Mutation_p.A708V|DST_ENST00000244364.6_Missense_Mutation_p.A382V|DST_ENST00000361203.3_Missense_Mutation_p.A708V|DST_ENST00000370765.6_Missense_Mutation_p.A382V|DST_ENST00000446842.2_Missense_Mutation_p.A382V|DST_ENST00000370788.2_Missense_Mutation_p.A708V			Q03001	DYST_HUMAN	dystonin	708					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCATTAGTCGCACGACTTAC	0.353													False	0	False	6:56504351	0	A	56504351	G	A	56504351	3	1	88	1	0	0	0	0	1	0	0	0	4813	1087	38	1	19322	1	DST	6	56504351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3946	56504351	114610716	7300	15012											
DST	667	broad.mit.edu	37	chr6	56505335	56505335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgttctgttgtcagtatgCgtcctttgctgtacacagaa	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56505335C>T	ENST00000370754.5	-	17	1996	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H	DST_ENST00000370769.4_Missense_Mutation_p.R488H|DST_ENST00000312431.6_Missense_Mutation_p.R488H|DST_ENST00000518935.1_Missense_Mutation_p.R162H|DST_ENST00000421834.2_Missense_Mutation_p.R488H|DST_ENST00000244364.6_Missense_Mutation_p.R162H|DST_ENST00000361203.3_Missense_Mutation_p.R488H|DST_ENST00000370765.6_Missense_Mutation_p.R162H|DST_ENST00000446842.2_Missense_Mutation_p.R162H|DST_ENST00000370788.2_Missense_Mutation_p.R488H			Q03001	DYST_HUMAN	dystonin	488					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTCAGTATGCGTCCTTTGCT	0.423													False	0	False	6:56505335	0	T	56505335	C	T	56505335	3	4	88	1	0	0	0	0	1	0	0	0	4813	768	27	1	19994	1	DST	6	56505335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	984	56505335	114609732	7301	15013											
DST	667	broad.mit.edu	37	chr6	56516029	56516029	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacagcaacagtattcatatCtatcaggtccggcctaggaa	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56516029C>A	ENST00000370754.5	-	10	1128	c.1129G>T	c.(1129-1131)Gat>Tat	p.D377Y	DST_ENST00000370769.4_Missense_Mutation_p.D199Y|DST_ENST00000312431.6_Missense_Mutation_p.D199Y|DST_ENST00000421834.2_Missense_Mutation_p.D199Y|DST_ENST00000361203.3_Missense_Mutation_p.D199Y|DST_ENST00000370788.2_Missense_Mutation_p.D199Y			Q03001	DYST_HUMAN	dystonin	199					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTATTCATATCTATCAGGTCC	0.343													False	0	True	6:56516029	0	A	56516029	C	A	56516029	3	1	88	1	0	0	0	0	1	0	0	0	4813	928	32	3		3	DST	6	56516029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10694	56516029	114599038	7302	15014											
DST	667	broad.mit.edu	37	chr6	56535563	56535563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtagcaatctctcttttgCagacatatcctctgactctc	6	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56535563C>T	ENST00000370754.5	-	9	990	c.991G>A	c.(991-993)Gca>Aca	p.A331T	DST_ENST00000370769.4_Missense_Mutation_p.A153T|DST_ENST00000312431.6_Missense_Mutation_p.A153T|DST_ENST00000421834.2_Missense_Mutation_p.A153T|DST_ENST00000361203.3_Missense_Mutation_p.A153T|DST_ENST00000370788.2_Missense_Mutation_p.A153T			Q03001	DYST_HUMAN	dystonin	153					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTCTTTTGCAGACATATCC	0.403													False	0	False	6:56535563	0	T	56535563	C	T	56535563	3	4	88	1	0	0	0	0	1	0	0	0	4813	725	25	2		2	DST	6	56535563	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19534	56535563	114579504	7303	15015											
DST	667	broad.mit.edu	37	chr6	56716322	56716322	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggggatgcggagccAgatttctggctgaaatcatc	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56716322A>C	ENST00000370754.5	-	4	497	c.498T>G	c.(496-498)tcT>tcG	p.S166S	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGCGGAGCCAGATTTCTGGC	0.512											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	6:56716322	0	C	56716322	A	C	56716322	2	2	88	1	0	0	0	0	0	0	0	1	4813	203	7	4		4	DST	6	56716322	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	180759	56716322	114398745	7304	15016											
BEND6	221336	broad.mit.edu	37	chr6	56857269	56857269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaaaggaagaattgtgcGccaaaataaaaagcctgaaa	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56857269G>A	ENST00000370748.3	+	3	649	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	BEND6_ENST00000370745.1_Missense_Mutation_p.A72T|BEND6_ENST00000370750.2_Missense_Mutation_p.A72T|BEND6_ENST00000370746.3_Missense_Mutation_p.A72T			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	72										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AGAATTGTGCGCCAAAATAAA	0.413													False	0	False	6:56857269	0	A	56857269	G	A	56857269	3	1	88	1	0	0	0	0	1	0	0	0	1406	1087	38	1	220	1	BEND6	6	56857269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140947	56857269	114257798	7305	15017											
LGSN	51557	broad.mit.edu	37	chr6	63990245	63990245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctagtttattttctatcCgggtgcctttctctccatga	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:63990245C>T	ENST00000370657.4	-	4	1244	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	404					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ATTTTCTATCCGGGTGCCTTT	0.448													False	0	True	6:63990245	0	T	63990245	C	T	63990245	3	4	88	1	0	0	0	0	1	0	0	0	8811	652	23	1	322	1	LGSN	6	63990245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7132976	63990245	107124822	7306	15018											
LGSN	51557	broad.mit.edu	37	chr6	63990442	63990442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccattttttcccagtgatCgtgagctgctcagttccaga	8	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:63990442C>T	ENST00000370658.5	-	5	626	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	LGSN_ENST00000370657.4_Silent_p.T338T	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	0					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TCCCAGTGATCGTGAGCTGCT	0.488													False	0	False	6:63990442	0	T	63990442	C	T	63990442	3	4	88	1	0	0	0	0	1	0	0	0	8811	884	31	1	519	1	LGSN	6	63990442	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197	63990442	107124625	7307	15019											
LGSN	51557	broad.mit.edu	37	chr6	64004878	64004878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaacatatggtttagtgaCtttcttccttgtccttctta	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64004878C>A	ENST00000370658.5	-	2	136	c.103G>T	c.(103-105)Gtc>Ttc	p.V35F	LGSN_ENST00000370657.4_Missense_Mutation_p.V35F	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	35					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GGTTTAGTGACTTTCTTCCTT	0.383													False	0	True	6:64004878	0	A	64004878	C	A	64004878	3	1	88	1	0	0	0	0	1	0	0	0	8811	565	20	3	1438	3	LGSN	6	64004878	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14436	64004878	107110189	7308	15020											
LGSN	51557	broad.mit.edu	37	chr6	64004931	64004931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggcttcagtctcattgCcttcatctcttgttgagtcc	8	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64004931C>T	ENST00000370658.5	-	2	83	c.50G>A	c.(49-51)gGc>gAc	p.G17D	LGSN_ENST00000370657.4_Missense_Mutation_p.G17D	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	17					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AGTCTCATTGCCTTCATCTCT	0.343													False	0	False	6:64004931	0	T	64004931	C	T	64004931	3	4	88	1	0	0	0	0	1	0	0	0	8811	739	26	2	1491	2	LGSN	6	64004931	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53	64004931	107110136	7309	15021											
PTP4A1	7803	broad.mit.edu	37	chr6	64289169	64289169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttacctcaccagagctccaGtacttgttgccctagcatta	6	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64289169G>T	ENST00000370651.3	+	5	1490	c.337G>T	c.(337-339)Gta>Tta	p.V113L	PTP4A1_ENST00000370650.2_Intron	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	113	Interaction with ATF5 (By similarity).|Tyrosine-protein phosphatase.				cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			CAGAGCTCCAGTACTTGTTGC	0.328													False	0	False	6:64289169	0	T	64289169	G	T	64289169	3	4	88	1	0	0	0	0	1	0	0	0	12847	1029	36	3	351	3	PTP4A1	6	64289169	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284238	64289169	106825898	7310	15022											
PHF3	23469	broad.mit.edu	37	chr6	64394104	64394104	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattaagtaacacaaaaaaaGcatctgggaagactgtatct	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64394104G>T	ENST00000262043.3	+	4	821	c.481G>T	c.(481-483)Gca>Tca	p.A161S	PHF3_ENST00000393387.1_Missense_Mutation_p.A161S|PHF3_ENST00000509330.1_Missense_Mutation_p.A161S			Q92576	PHF3_HUMAN	PHD finger protein 3	161					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACAAAAAAAGCATCTGGGAA	0.393													False	0	True	6:64394104	0	T	64394104	G	T	64394104	3	4	88	1	0	0	0	0	1	0	0	0	11905	971	34	3	491	3	PHF3	6	64394104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104935	64394104	106720963	7311	15023											
PHF3	23469	broad.mit.edu	37	chr6	64410340	64410340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagttagctgcttggagacGaagagaaaacagacatgtaa	12	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64410340G>A	ENST00000262043.3	+	9	3423	c.3083G>A	c.(3082-3084)cGa>cAa	p.R1028Q	PHF3_ENST00000393387.1_Missense_Mutation_p.R1028Q			Q92576	PHF3_HUMAN	PHD finger protein 3	1028	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCTTGGAGACGAAGAGAAAAC	0.313													False	0	False	6:64410340	0	A	64410340	G	A	64410340	3	1	88	1	0	0	0	0	1	0	0	0	11905	1058	37	1	3113	1	PHF3	6	64410340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16236	64410340	106704727	7312	15024											
PHF3	23469	broad.mit.edu	37	chr6	64422753	64422753	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcacccatttcgaagaGgatcagcagtagcgacatct	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64422753G>T	ENST00000262043.3	+	16	5609	c.5269G>T	c.(5269-5271)Gga>Tga	p.G1757*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.G1757*			Q92576	PHF3_HUMAN	PHD finger protein 3	1757					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATTTCGAAGAGGATCAGCAGT	0.403													False	0	False	6:64422753	0	T	64422753	G	T	64422753	4	4	88	1	0	0	0	0	0	1	0	0	11905	1001	35	3	5327	3	PHF3	6	64422753	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12413	64422753	106692314	7313	15025											
EYS	346007	broad.mit.edu	37	chr6	66053985	66053985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattattatcttcaggatcGttcacataggttgcatcttc	7	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66053985G>A	ENST00000503581.1	-	10	2082	c.1545C>T	c.(1543-1545)aaC>aaT	p.N515N	EYS_ENST00000393380.2_Silent_p.N515N|EYS_ENST00000370618.3_Silent_p.N515N|EYS_ENST00000370616.2_Silent_p.N515N|EYS_ENST00000370621.3_Silent_p.N515N|EYS_ENST00000342421.5_Silent_p.N515N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	515					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTTCAGGATCGTTCACATAGG	0.373													False	0	False	6:66053985	0	A	66053985	G	A	66053985	2	1	88	1	0	0	0	0	0	0	0	1	5365	1136	40	1		1	EYS	6	66053985	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1631232	66053985	105061082	7314	15026											
EYS	346007	broad.mit.edu	37	chr6	66063417	66063417	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttggcaaataccatggaAggtgactccacagtagcaga	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66063417A>C	ENST00000503581.1	-	9	1930	c.1393T>G	c.(1393-1395)Ttc>Gtc	p.F465V	EYS_ENST00000393380.2_Missense_Mutation_p.F465V|EYS_ENST00000370618.3_Missense_Mutation_p.F465V|EYS_ENST00000370616.2_Missense_Mutation_p.F465V|EYS_ENST00000370621.3_Missense_Mutation_p.F465V|EYS_ENST00000342421.5_Missense_Mutation_p.F465V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	465					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATACCATGGAAGGTGACTCCA	0.368													False	0	False	6:66063417	0	C	66063417	A	C	66063417	3	2	88	1	0	0	0	0	1	0	0	0	5365	72	3	4	8143	4	EYS	6	66063417	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9432	66063417	105051650	7315	15027											
EYS	346007	broad.mit.edu	37	chr6	66063454	66063454	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaggtgttgatgaattagGtaaacattcttcaaaaacca	8	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66063454G>T	ENST00000503581.1	-	9	1893	c.1356C>A	c.(1354-1356)taC>taA	p.Y452*	EYS_ENST00000393380.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000370618.3_Nonsense_Mutation_p.Y452*|EYS_ENST00000370616.2_Nonsense_Mutation_p.Y452*|EYS_ENST00000370621.3_Nonsense_Mutation_p.Y452*|EYS_ENST00000342421.5_Nonsense_Mutation_p.Y452*	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	452					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GATGAATTAGGTAAACATTCT	0.368													False	0	False	6:66063454	0	T	66063454	G	T	66063454	4	4	88	1	0	0	0	0	0	1	0	0	5365	1256	44	3	8180	3	EYS	6	66063454	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	66063454	105051613	7316	15028											
EYS	346007	broad.mit.edu	37	chr6	66205048	66205048	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agaagaaattacaaggatatCtcctaattgaatttgcaaag	7	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66205048C>T	ENST00000503581.1	-	4	793	c.256G>A	c.(256-258)Gat>Aat	p.D86N	EYS_ENST00000393380.2_Missense_Mutation_p.D86N|EYS_ENST00000370618.3_Missense_Mutation_p.D86N|EYS_ENST00000370616.2_Missense_Mutation_p.D86N|EYS_ENST00000370621.3_Missense_Mutation_p.D86N|EYS_ENST00000342421.5_Missense_Mutation_p.D86N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	86					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACAAGGATATCTCCTAATTGA	0.363													False	0	False	6:66205048	0	T	66205048	C	T	66205048	3	4	88	1	0	0	0	0	1	0	0	0	5365	913	32	2	9300	2	EYS	6	66205048	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141594	66205048	104910019	7317	15029											
BAI3	577	broad.mit.edu	37	chr6	69653757	69653757	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaatggtcaccatggagtTtatgttcatttacatgtggt	11	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69653757T>G	ENST00000370598.1	+	6	1887	c.1066T>G	c.(1066-1068)Tta>Gta	p.L356V		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	356	TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACCATGGAGTTTATGTTCATT	0.423													False	0	True	6:69653757	0	G	69653757	T	G	69653757	3	3	88	1	0	0	0	0	1	0	0	0	1304	1838	64	4	1080	4	BAI3	6	69653757	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3448709	69653757	101461310	7318	15030											
BAI3	577	broad.mit.edu	37	chr6	69949055	69949055	+	Silent	SNP	C	C	T													tccataatactaattaacttCtgcctgtctatcatctcatc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69949055C>T	ENST00000370598.1	+	20	3572	c.2751C>T	c.(2749-2751)ttC>ttT	p.F917F	BAI3_ENST00000238918.8_Silent_p.F123F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	917					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TAATTAACTTCTGCCTGTCTA	0.348													False	0	False	6:69949055	0	T	69949055	C	T	69949055	2	4	88	1	0	0	0	0	0	0	0	1	1304	912	32	2		2	BAI3	6	69949055	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295298	69949055	101166012	7319	15031	191	2									
BAI3	577	broad.mit.edu	37	chr6	69949063	69949063	+	Missense_Mutation	SNP	C	C	T													actaattaacttctgcctgtCtatcatctcatccaatatcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69949063C>T	ENST00000370598.1	+	20	3580	c.2759C>T	c.(2758-2760)tCt>tTt	p.S920F	BAI3_ENST00000238918.8_Missense_Mutation_p.S126F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	920					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTCTGCCTGTCTATCATCTCA	0.348													False	0	False	6:69949063	0	T	69949063	C	T	69949063	3	4	88	1	0	0	0	0	1	0	0	0	1304	913	32	2	2829	2	BAI3	6	69949063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	69949063	101166004	7320	15032	191	2									
BAI3	577	broad.mit.edu	37	chr6	70070821	70070821	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacaggaacactttctaggaTttctctaaatgatgatgaag	8	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70070821T>G	ENST00000370598.1	+	29	4477	c.3656T>G	c.(3655-3657)aTt>aGt	p.I1219S	BAI3_ENST00000238918.8_Missense_Mutation_p.I425S|BAI3_ENST00000546190.1_Missense_Mutation_p.I183S	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1219					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTTTCTAGGATTTCTCTAAAT	0.393													False	0	True	6:70070821	0	G	70070821	T	G	70070821	3	3	88	1	0	0	0	0	1	0	0	0	1304	1493	52	4	3762	4	BAI3	6	70070821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	121758	70070821	101044246	7321	15033											
COL19A1	1310	broad.mit.edu	37	chr6	70608839	70608839	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctttttttctttttaaataGaagagtcatgccctatcctg	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70608839G>A	ENST00000322773.4	+	3	193		c.e3-1			NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTTTAAATAGAAGAGTCATG	0.308													False	0	False	6:70608839	0	A	70608839	G	A	70608839	5	1	88	1	0	0	0	0	0	0	1	0	3699	956	33	2	97	2	COL19A1	6	70608839	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	538018	70608839	100506228	7322	15034											
COL19A1	1310	broad.mit.edu	37	chr6	70852662	70852662	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accaccttttattttagggtCagcaaggatctgcaggctcc	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70852662C>T	ENST00000322773.4	+	23	1678	c.1576C>T	c.(1576-1578)Cag>Tag	p.Q526*	COL19A1_ENST00000393344.1_Nonsense_Mutation_p.Q148*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	526	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATTTTAGGGTCAGCAAGGATC	0.368													False	0	False	6:70852662	0	T	70852662	C	T	70852662	4	4	88	1	0	0	0	0	0	1	0	0	3699	827	29	2	1662	2	COL19A1	6	70852662	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243823	70852662	100262405	7323	15035											
COL19A1	1310	broad.mit.edu	37	chr6	70866246	70866246	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctccaggaatcccaggAagagagggaccaaaggtaag	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70866246A>G	ENST00000322773.4	+	33	2325	c.2223A>G	c.(2221-2223)ggA>ggG	p.G741G	COL19A1_ENST00000393344.1_Silent_p.G363G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	741	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAATCCCAGGAAGAGAGGGAC	0.458													False	0	True	6:70866246	0	G	70866246	A	G	70866246	2	3	88	1	0	0	0	0	0	0	0	1	3699	233	9	4		4	COL19A1	6	70866246	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13584	70866246	100248821	7324	15036											
COL9A1	1297	broad.mit.edu	37	chr6	70964196	70964196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactggtaacccctgcaatcCtgcatcaccaggaggcccag	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70964196C>T	ENST00000357250.6	-	25	1860	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R	COL9A1_ENST00000320755.7_Missense_Mutation_p.G325R|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G325R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	568	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCCTGCAATCCTGCATCACCA	0.373													False	0	False	6:70964196	0	T	70964196	C	T	70964196	3	4	88	1	0	0	0	0	1	0	0	0	3730	690	24	2	1119	2	COL9A1	6	70964196	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97950	70964196	100150871	7325	15037											
COL9A1	1297	broad.mit.edu	37	chr6	70972947	70972947	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaaaaaatactttacTggaggtccttgagctccaac	6	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70972947T>C	ENST00000357250.6	-	19	1553	c.1395A>G	c.(1393-1395)ccA>ccG	p.P465P	COL9A1_ENST00000320755.7_Splice_Site_p.P222P|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Splice_Site_p.P222P	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	465	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						aataCTTTACTGGAGGTCCTT	0.318													False	0	False	6:70972947	0	C	70972947	T	C	70972947	5	2	88	1	0	0	0	0	0	0	1	0	3730	1594	55	4	1450	4	COL9A1	6	70972947	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8751	70972947	100142120	7326	15038											
FAM135A	57579	broad.mit.edu	37	chr6	71235308	71235308	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcatctttgacatccataAactctctaccctccgatgat	4	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71235308A>C	ENST00000418814.2	+	15	3135	c.2521A>C	c.(2521-2523)Aac>Cac	p.N841H	FAM135A_ENST00000370479.3_Missense_Mutation_p.N628H|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.N645H|FAM135A_ENST00000457062.2_Missense_Mutation_p.N628H|FAM135A_ENST00000505868.1_Missense_Mutation_p.N841H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	841										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GACATCCATAAACTCTCTACC	0.323													False	0	True	6:71235308	0	C	71235308	A	C	71235308	3	2	88	1	0	0	0	0	1	0	0	0	5484	14	1	4	2649	4	FAM135A	6	71235308	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	262361	71235308	99879759	7327	15039											
FAM135A	57579	broad.mit.edu	37	chr6	71236360	71236360	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttacaacttcacttcttcGatttcctggtatgaaagttc	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71236360G>A	ENST00000418814.2	+	15	4187	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S	FAM135A_ENST00000370479.3_Silent_p.S978S|FAM135A_ENST00000505769.1_Silent_p.S771S|FAM135A_ENST00000361499.3_Silent_p.S995S|FAM135A_ENST00000457062.2_Silent_p.S978S|FAM135A_ENST00000505868.1_Silent_p.S1191S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1191										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TCACTTCTTCGATTTCCTGGT	0.348													False	0	False	6:71236360	0	A	71236360	G	A	71236360	2	1	88	1	0	0	0	0	0	0	0	1	5484	1045	37	1		1	FAM135A	6	71236360	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1052	71236360	99878707	7328	15040											
FAM135A	57579	broad.mit.edu	37	chr6	71243497	71243497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgatagcatgactgatcGtcttttggatgagataatac	9	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71243497G>A	ENST00000418814.2	+	18	4519	c.3905G>A	c.(3904-3906)cGt>cAt	p.R1302H	FAM135A_ENST00000370479.3_Missense_Mutation_p.R1089H|FAM135A_ENST00000505769.1_Missense_Mutation_p.R882H|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1106H|FAM135A_ENST00000457062.2_Missense_Mutation_p.R1089H|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1302H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1302								p.R1089H(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATGACTGATCGTCTTTTGGAT	0.254													False	0	False	6:71243497	0	A	71243497	G	A	71243497	3	1	88	1	0	0	0	0	1	0	0	0	5484	1145	40	1	4045	1	FAM135A	6	71243497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7137	71243497	99871570	7329	15041											
FAM135A	57579	broad.mit.edu	37	chr6	71245970	71245970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcctcttaaagctttattGgacattcgttgggcaattta	7	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71245970G>A	ENST00000418814.2	+	19	4587	c.3973G>A	c.(3973-3975)Gga>Aga	p.G1325R	FAM135A_ENST00000370479.3_Missense_Mutation_p.G1112R|FAM135A_ENST00000505769.1_Missense_Mutation_p.G905R|FAM135A_ENST00000361499.3_Missense_Mutation_p.G1129R|FAM135A_ENST00000457062.2_Missense_Mutation_p.G1112R|FAM135A_ENST00000505868.1_Missense_Mutation_p.G1325R	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1325										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAGCTTTATTGGACATTCGTT	0.318													False	0	False	6:71245970	0	A	71245970	G	A	71245970	3	1	88	1	0	0	0	0	1	0	0	0	5484	1349	47	2	4117	2	FAM135A	6	71245970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2473	71245970	99869097	7330	15042											
OGFRL1	79627	broad.mit.edu	37	chr6	72011229	72011229	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattcccaatattaagcagaGtgctctagagtattttgttt	7	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72011229G>T	ENST00000370435.4	+	7	967	c.833G>T	c.(832-834)aGt>aTt	p.S278I	RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	278						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						ATTAAGCAGAGTGCTCTAGAG	0.383													False	0	False	6:72011229	0	T	72011229	G	T	72011229	3	4	88	1	0	0	0	0	1	0	0	0	10912	1029	36	3	859	3	OGFRL1	6	72011229	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	765259	72011229	99103838	7331	15043											
RIMS1	0	broad.mit.edu	37	chr6	72889425	72889425	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggctctgaggtaccaagaGaaaagaaagcacgactccaa	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72889425G>T	ENST00000264839.7	+	5	619	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	RIMS1_ENST00000491071.2_Nonsense_Mutation_p.E207*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.E207*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.E207*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.E207*			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	207					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGTACCAAGAGAAAAGAAAGC	0.567													False	0	True	6:72889425	0	T	72889425	G	T	72889425	4	4	88	1	0	0	0	0	0	1	0	0	13446	943	33	3	637	3	RIMS1	6	72889425	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	878196	72889425	98225642	7332	15044											
RIMS1	0	broad.mit.edu	37	chr6	72960117	72960117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgctagagtagatggaCgtcctcgaaatccctatgta	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72960117C>T	ENST00000264839.7	+	13	2326	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	RIMS1_ENST00000491071.2_Missense_Mutation_p.R776C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R169C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R776C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R776C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R776C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R250C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R776C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R250C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R776C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R776C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R235C			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	776	C2 1.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGTAGATGGACGTCCTCGAAA	0.358													False	0	False	6:72960117	0	T	72960117	C	T	72960117	3	4	88	1	0	0	0	0	1	0	0	0	13446	536	19	1	2539	1	RIMS1	6	72960117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70692	72960117	98154950	7333	15045											
RIMS1	0	broad.mit.edu	37	chr6	73108697	73108697	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttggaaaatggggcctgTatagccaagaagaagacaag	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73108697T>C	ENST00000264839.7	+	29	4308	c.4308T>C	c.(4306-4308)tgT>tgC	p.C1436C	RIMS1_ENST00000491071.2_Silent_p.C1376C|RIMS1_ENST00000425662.2_Silent_p.C655C|RIMS1_ENST00000520567.1_Silent_p.C1237C|RIMS1_ENST00000521978.1_Silent_p.C1587C|RIMS1_ENST00000538414.1_Silent_p.C393C|RIMS1_ENST00000522291.1_Silent_p.C1186C|RIMS1_ENST00000523963.1_Silent_p.C712C|RIMS1_ENST00000348717.5_Silent_p.C1370C|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000401910.3_Silent_p.C907C|RIMS1_ENST00000518273.1_Silent_p.C1266C|RIMS1_ENST00000517960.1_Silent_p.C1370C|RIMS1_ENST00000414192.2_Silent_p.C114C|RIMS1_ENST00000517827.1_Silent_p.C721C			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1587					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATGGGGCCTGTATAGCCAAGA	0.333													False	0	False	6:73108697	0	C	73108697	T	C	73108697	2	2	88	1	0	0	0	0	0	0	0	1	13446	1644	57	4		4	RIMS1	6	73108697	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	148580	73108697	98006370	7334	15046											
KCNQ5	56479	broad.mit.edu	37	chr6	73787531	73787531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttttggttcttattttttCgtctttccttgtctatctgg	6	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73787531C>T	ENST00000342056.2	+	5	1237	c.839C>T	c.(838-840)tCg>tTg	p.S280L	KCNQ5_ENST00000370398.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S280L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S280L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S280L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	280					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.S280L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CTTATTTTTTCGTCTTTCCTT	0.338													False	0	True	6:73787531	0	T	73787531	C	T	73787531	3	4	88	1	0	0	0	0	1	0	0	0	8136	893	31	1	857	1	KCNQ5	6	73787531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	678834	73787531	97327536	7335	15047											
KCNQ5	56479	broad.mit.edu	37	chr6	73879480	73879480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgcagctgacacagccCttggcactgatgatgtatat	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73879480C>T	ENST00000342056.2	+	12	1935	c.1537C>T	c.(1537-1539)Ctt>Ttt	p.L513F	KCNQ5_ENST00000370398.1_Missense_Mutation_p.L494F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L485F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L495F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L494F|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L504F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	494					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGACACAGCCCTTGGCACTGA	0.433													False	0	True	6:73879480	0	T	73879480	C	T	73879480	3	4	88	1	0	0	0	0	1	0	0	0	8136	681	24	2	1583	2	KCNQ5	6	73879480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91949	73879480	97235587	7336	15048											
KCNQ5	56479	broad.mit.edu	37	chr6	73900337	73900337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaacggaagtttaaggaaaCattacgtccatatgatgtaa	8	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73900337C>T	ENST00000342056.2	+	13	2074	c.1676C>T	c.(1675-1677)aCa>aTa	p.T559I	KCNQ5_ENST00000370398.1_Missense_Mutation_p.T540I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.T531I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.T541I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.T540I|KCNQ5_ENST00000414165.2_Missense_Mutation_p.T430I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.T550I	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	540					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTTAAGGAAACATTACGTCCA	0.303													False	0	True	6:73900337	0	T	73900337	C	T	73900337	3	4	88	1	0	0	0	0	1	0	0	0	8136	478	17	2	1726	2	KCNQ5	6	73900337	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20857	73900337	97214730	7337	15049											
KCNQ5	56479	broad.mit.edu	37	chr6	73904434	73904434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgccaaatgagttcagtgCccagactttctacgcgctta	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73904434C>T	ENST00000342056.2	+	15	2551	c.2153C>T	c.(2152-2154)gCc>gTc	p.A718V	KCNQ5_ENST00000370398.1_Missense_Mutation_p.A699V|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A690V|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A700V|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A699V|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A589V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A709V	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	699					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GAGTTCAGTGCCCAGACTTTC	0.512													False	0	True	6:73904434	0	T	73904434	C	T	73904434	3	4	88	1	0	0	0	0	1	0	0	0	8136	739	26	2	2211	2	KCNQ5	6	73904434	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4097	73904434	97210633	7338	15050											
OOEP	441161	broad.mit.edu	37	chr6	74104604	74104604	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagctggacggcaacgacGtcggacgcgccccttcttgg	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74104604G>A	ENST00000370363.1	-	0	212				DDX43_ENST00000539829.1_5'UTR|DDX43_ENST00000370336.4_5'UTR			A6NGQ2	OOEP_HUMAN	oocyte expressed protein							cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						CGGCAACGACGTCGGACGCGC	0.632													False	0	False	6:74104604	0	A	74104604	G	A	74104604	1	1	88	1	0	0	0	0	0	0	0	0	10938	1160	40	1		1	OOEP	6	74104604	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200170	74104604	97010463	7339	15051											
MTO1	25821	broad.mit.edu	37	chr6	74189713	74189713	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttccaaaccgtctacatcaGgtttggttggaacctgaagg	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74189713G>T	ENST00000498286.1	+	6	1270	c.993G>T	c.(991-993)caG>caT	p.Q331H	MTO1_ENST00000370305.1_Missense_Mutation_p.Q257H|MTO1_ENST00000370300.4_Missense_Mutation_p.Q331H|MTO1_ENST00000415954.2_Missense_Mutation_p.Q331H			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	331					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GTCTACATCAGGTTTGGTTGG	0.383											OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	6:74189713	0	T	74189713	G	T	74189713	3	4	88	1	0	0	0	0	1	0	0	0	10020	991	35	3	1015	3	MTO1	6	74189713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85109	74189713	96925354	7340	15052											
MTO1	25821	broad.mit.edu	37	chr6	74201963	74201963	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatatatttgcagagctctCgatgttctgaagtatgagga	10	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74201963C>T	ENST00000498286.1	+	10	1921	c.1644C>T	c.(1642-1644)ctC>ctT	p.L548L	MTO1_ENST00000370305.1_Silent_p.L499L|MTO1_ENST00000370300.4_Silent_p.L573L|RP11-505P4.6_ENST00000423099.1_RNA|MTO1_ENST00000415954.2_Silent_p.L588L			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	573					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GCAGAGCTCTCGATGTTCTGA	0.373													False	0	False	6:74201963	0	T	74201963	C	T	74201963	2	4	88	1	0	0	0	0	0	0	0	1	10020	871	31	1		1	MTO1	6	74201963	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12250	74201963	96913104	7341	15053											
EEF1A1	1915	broad.mit.edu	37	chr6	74228449	74228449	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagacatcctggagaggCaggcgcaagggcttgtcagt	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74228449C>T	ENST00000316292.9	-	4	1735	c.744G>A	c.(742-744)ctG>ctA	p.L248L	EEF1A1_ENST00000309268.6_Silent_p.L248L|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Silent_p.L248L	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	248						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CCTGGAGAGGCAGGCGCAAGG	0.483											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	True	6:74228449	0	T	74228449	C	T	74228449	2	4	88	1	0	0	0	0	0	0	0	1	4953	697	25	2		2	EEF1A1	6	74228449	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26486	74228449	96886618	7342	15054											
SLC17A5	26503	broad.mit.edu	37	chr6	74325115	74325115	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aattgtcagcagcttgaccaGacaggatcatacataaccaa	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74325115G>T	ENST00000355773.5	-	8	1302	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	345					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTTGACCAGACAGGATCAT	0.358													False	0	False	6:74325115	0	T	74325115	G	T	74325115	3	4	88	1	0	0	0	0	1	0	0	0	14501	942	33	3	469	3	SLC17A5	6	74325115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96666	74325115	96789952	7343	15055											
CD109	135228	broad.mit.edu	37	chr6	74407148	74407148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtttctggtgacagccccaGggatcatcaggcccggagga	15	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74407148G>T	ENST00000437994.2	+	2	531	c.100G>T	c.(100-102)Ggg>Tgg	p.G34W	CD109_ENST00000287097.5_Missense_Mutation_p.G34W|CD109_ENST00000422508.2_Missense_Mutation_p.G34W	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	34						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACAGCCCCAGGGATCATCAG	0.507													False	0	True	6:74407148	0	T	74407148	G	T	74407148	3	4	88	1	0	0	0	0	1	0	0	0	2986	1000	35	3	106	3	CD109	6	74407148	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82033	74407148	96707919	7344	15056											
CD109	135228	broad.mit.edu	37	chr6	74497138	74497138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacagctctttcacccaCtgcttctgatgctgtcaccc	6	16	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74497138C>T	ENST00000437994.2	+	21	2950	c.2519C>T	c.(2518-2520)aCt>aTt	p.T840I	CD109_ENST00000422508.2_Missense_Mutation_p.T763I|CD109_ENST00000287097.5_Missense_Mutation_p.T840I	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	840						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTTCACCCACTGCTTCTGAT	0.423													False	0	False	6:74497138	0	T	74497138	C	T	74497138	3	4	88	1	0	0	0	0	1	0	0	0	2986	565	20	2	2601	2	CD109	6	74497138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89990	74497138	96617929	7345	15057											
COL12A1	1303	broad.mit.edu	37	chr6	75839891	75839891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcatgatcccaggctacCgagaggctattggttgtttc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75839891C>T	ENST00000322507.8	-	37	6435	c.6126G>A	c.(6124-6126)tcG>tcA	p.S2042S	COL12A1_ENST00000483888.2_Silent_p.S2042S|COL12A1_ENST00000345356.6_Silent_p.S878S|COL12A1_ENST00000416123.2_Silent_p.S2042S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2042	Fibronectin type-III 16.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCCAGGCTACCGAGAGGCTAT	0.438													False	0	False	6:75839891	0	T	75839891	C	T	75839891	2	4	88	1	0	0	0	0	0	0	0	1	3692	639	23	1		1	COL12A1	6	75839891	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1342753	75839891	95275176	7346	15058											
COL12A1	1303	broad.mit.edu	37	chr6	75840677	75840677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctccagatgcaccatgcgCgtgtttcctggcactactat	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75840677C>T	ENST00000322507.8	-	36	6267	c.5958G>A	c.(5956-5958)acG>acA	p.T1986T	COL12A1_ENST00000483888.2_Silent_p.T1986T|COL12A1_ENST00000345356.6_Silent_p.T822T|COL12A1_ENST00000416123.2_Silent_p.T1986T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1986	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCACCATGCGCGTGTTTCCTG	0.507													False	0	False	6:75840677	0	T	75840677	C	T	75840677	2	4	88	1	0	0	0	0	0	0	0	1	3692	755	27	1		1	COL12A1	6	75840677	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	786	75840677	95274390	7347	15059											
COL12A1	1303	broad.mit.edu	37	chr6	75844520	75844520	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtgatagtgtaaggagtgtCtggcttcagtttctgcagga	15	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75844520C>A	ENST00000322507.8	-	32	5755	c.5446G>T	c.(5446-5448)Gac>Tac	p.D1816Y	COL12A1_ENST00000483888.2_Missense_Mutation_p.D1816Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D652Y|COL12A1_ENST00000416123.2_Missense_Mutation_p.D1816Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1816	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAAGGAGTGTCTGGCTTCAGT	0.498													False	0	False	6:75844520	0	A	75844520	C	A	75844520	3	1	88	1	0	0	0	0	1	0	0	0	3692	913	32	3	3885	3	COL12A1	6	75844520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3843	75844520	95270547	7348	15060											
COL12A1	1303	broad.mit.edu	37	chr6	75844551	75844551	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctgcaggaccacactgttCtgccgtcctcctattgtggt	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75844551C>A	ENST00000322507.8	-	32	5724	c.5415G>T	c.(5413-5415)caG>caT	p.Q1805H	COL12A1_ENST00000483888.2_Missense_Mutation_p.Q1805H|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q641H|COL12A1_ENST00000416123.2_Missense_Mutation_p.Q1805H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1805	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCACACTGTTCTGCCGTCCTC	0.478													False	0	False	6:75844551	0	A	75844551	C	A	75844551	3	1	88	1	0	0	0	0	1	0	0	0	3692	912	32	3	3916	3	COL12A1	6	75844551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	75844551	95270516	7349	15061											
COL12A1	1303	broad.mit.edu	37	chr6	75898987	75898987	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctcttgctggaatttccaCttcatcctgggattttccat	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75898987C>A	ENST00000322507.8	-	7	1078	c.769G>T	c.(769-771)Gtg>Ttg	p.V257L	COL12A1_ENST00000483888.2_Missense_Mutation_p.V257L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.V257L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	257	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGAATTTCCACTTCATCCTGG	0.373													False	0	False	6:75898987	0	A	75898987	C	A	75898987	3	1	88	1	0	0	0	0	1	0	0	0	3692	565	20	3	8662	3	COL12A1	6	75898987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54436	75898987	95216080	7350	15062											
FILIP1	27145	broad.mit.edu	37	chr6	76022516	76022516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgctgatgtagacaccGtcattatctgaataggggat	12	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76022516G>A	ENST00000393004.2	-	5	3253	c.3032C>T	c.(3031-3033)aCg>aTg	p.T1011M	FILIP1_ENST00000370020.1_Missense_Mutation_p.T912M|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.T1011M			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1011										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGTAGACACCGTCATTATCTG	0.493													False	0	False	6:76022516	0	A	76022516	G	A	76022516	3	1	88	1	0	0	0	0	1	0	0	0	5934	1145	40	1	617	1	FILIP1	6	76022516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123529	76022516	95092551	7351	15063											
FILIP1	27145	broad.mit.edu	37	chr6	76022961	76022961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagactttctcatagtgaGctcatttgctgctggaggat	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76022961G>A	ENST00000393004.2	-	5	2808	c.2587C>T	c.(2587-2589)Ctc>Ttc	p.L863F	FILIP1_ENST00000370020.1_Missense_Mutation_p.L764F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.L863F			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	863										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCATAGTGAGCTCATTTGCT	0.473													False	0	False	6:76022961	0	A	76022961	G	A	76022961	3	1	88	1	0	0	0	0	1	0	0	0	5934	971	34	2	1062	2	FILIP1	6	76022961	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	445	76022961	95092106	7352	15064											
FILIP1	27145	broad.mit.edu	37	chr6	76023041	76023041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccacctgccgaagattaCtcataatatgattttcttcc	4	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023041C>T	ENST00000393004.2	-	5	2728	c.2507G>A	c.(2506-2508)aGt>aAt	p.S836N	FILIP1_ENST00000370020.1_Missense_Mutation_p.S737N|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S836N			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	836										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCGAAGATTACTCATAATATG	0.458													False	0	False	6:76023041	0	T	76023041	C	T	76023041	3	4	88	1	0	0	0	0	1	0	0	0	5934	565	20	2	1142	2	FILIP1	6	76023041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	76023041	95092026	7353	15065											
FILIP1	27145	broad.mit.edu	37	chr6	76023122	76023122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcttcaccgctgactGcatcagtttggactccagtt	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023122G>A	ENST00000393004.2	-	5	2647	c.2426C>T	c.(2425-2427)gCa>gTa	p.A809V	FILIP1_ENST00000370020.1_Missense_Mutation_p.A710V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.A809V			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	809										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACCGCTGACTGCATCAGTTTG	0.483													False	0	False	6:76023122	0	A	76023122	G	A	76023122	3	1	88	1	0	0	0	0	1	0	0	0	5934	1319	46	2	1223	2	FILIP1	6	76023122	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	76023122	95091945	7354	15066											
FILIP1	27145	broad.mit.edu	37	chr6	76023250	76023250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagattgagaacctcctgCcccatgtttttgttcttatt	7	10	2	2	rs147346630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023250C>T	ENST00000393004.2	-	5	2519	c.2298G>A	c.(2296-2298)ggG>ggA	p.G766G	FILIP1_ENST00000370020.1_Silent_p.G667G|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.G766G			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	766										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAACCTCCTGCCCCATGTTTT	0.413													False	0	True	6:76023250	0	T	76023250	C	T	76023250	2	4	88	1	0	0	0	0	0	0	0	1	5934	726	26	2		2	FILIP1	6	76023250	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128	76023250	95091817	7355	15067											
FILIP1	27145	broad.mit.edu	37	chr6	76024448	76024448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttccacattctcctttgGcaattttatctcttaattct	3	10	3	0	rs146943364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76024448G>A	ENST00000393004.2	-	5	1321	c.1100C>T	c.(1099-1101)gCc>gTc	p.A367V	FILIP1_ENST00000370020.1_Missense_Mutation_p.A268V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.A367V			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	367										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTCCTTTGGCAATTTTATC	0.413													False	0	False	6:76024448	0	A	76024448	G	A	76024448	3	1	88	1	0	0	0	0	1	0	0	0	5934	1203	42	2	2549	2	FILIP1	6	76024448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1198	76024448	95090619	7356	15068											
FILIP1	27145	broad.mit.edu	37	chr6	76072528	76072528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagaatggcatctcggtGcaggacccgcagcactttct	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76072528G>A	ENST00000393004.2	-	3	603	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	FILIP1_ENST00000370020.1_Missense_Mutation_p.H29Y|RP11-415D17.3_ENST00000588761.1_RNA|RP11-415D17.3_ENST00000419709.1_RNA|RP11-415D17.3_ENST00000440220.1_RNA|RP11-415D17.3_ENST00000591821.2_RNA|RP11-415D17.3_ENST00000415457.2_RNA|FILIP1_ENST00000237172.7_Missense_Mutation_p.H128Y			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	128								p.H128N(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCATCTCGGTGCAGGACCCGC	0.493													False	0	False	6:76072528	0	A	76072528	G	A	76072528	3	1	88	1	0	0	0	0	1	0	0	0	5934	1319	46	2	3275	2	FILIP1	6	76072528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48080	76072528	95042539	7357	15069											
SENP6	26054	broad.mit.edu	37	chr6	76412670	76412670	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgaaaaaaataaatcaTactgcgagtgaaaatgaaga	9	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76412670T>G	ENST00000370014.3	+	19	3217	c.2598T>G	c.(2596-2598)caT>caG	p.H866Q	SENP6_ENST00000447266.2_Missense_Mutation_p.H866Q|SENP6_ENST00000370010.2_Missense_Mutation_p.H859Q|SENP6_ENST00000541192.1_Intron	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	866	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AAATAAATCATACTGCGAGTG	0.358													False	0	False	6:76412670	0	G	76412670	T	G	76412670	3	3	88	1	0	0	0	0	1	0	0	0	14131	1403	49	4	2672	4	SENP6	6	76412670	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	340142	76412670	94702397	7358	15070											
SENP6	26054	broad.mit.edu	37	chr6	76423282	76423282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccttctcggtcaaatgttgTcaaaattttaagagagtaag	8	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76423282T>C	ENST00000370014.3	+	22	3582	c.2963T>C	c.(2962-2964)gTc>gCc	p.V988A	SENP6_ENST00000447266.2_Missense_Mutation_p.V988A|SENP6_ENST00000370010.2_Missense_Mutation_p.V981A|SENP6_ENST00000541192.1_3'UTR	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	988	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TCAAATGTTGTCAAAATTTTA	0.328													False	0	False	6:76423282	0	C	76423282	T	C	76423282	3	2	88	1	0	0	0	0	1	0	0	0	14131	1667	58	4	3049	4	SENP6	6	76423282	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10612	76423282	94691785	7359	15071											
MYO6	4646	broad.mit.edu	37	chr6	76623953	76623953	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaccatggattgcccggCaaatggaactccatcctgac	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76623953C>T	ENST00000369981.3	+	34	3895	c.3616C>T	c.(3616-3618)Caa>Taa	p.Q1206*	MYO6_ENST00000369977.3_Nonsense_Mutation_p.Q1205*|MYO6_ENST00000369975.1_Nonsense_Mutation_p.Q1173*|MYO6_ENST00000369985.4_Nonsense_Mutation_p.Q1182*			Q9UM54	MYO6_HUMAN	myosin VI	1214					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GATTGCCCGGCAAATGGAACT	0.463													False	0	True	6:76623953	0	T	76623953	C	T	76623953	4	4	88	1	0	0	0	0	0	1	0	0	10148	711	25	2	3743	2	MYO6	6	76623953	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200671	76623953	94491114	7360	15072											
IMPG1	3617	broad.mit.edu	37	chr6	76660430	76660430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatagaactagtggtgataTactgtaaagctgagacagga	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76660430T>C	ENST00000369950.3	-	13	1862	c.1673A>G	c.(1672-1674)tAt>tGt	p.Y558C	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	558					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGTGGTGATATACTGTAAAGC	0.502													False	0	False	6:76660430	0	C	76660430	T	C	76660430	3	2	88	1	0	0	0	0	1	0	0	0	7778	1406	49	4	740	4	IMPG1	6	76660430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	36477	76660430	94454637	7361	15073											
IMPG1	3617	broad.mit.edu	37	chr6	76660589	76660589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcacttgatcggctgTcatctgaagatgcaggtgga	12	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76660589T>C	ENST00000369950.3	-	13	1703	c.1514A>G	c.(1513-1515)gAc>gGc	p.D505G	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	505					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGATCGGCTGTCATCTGAAGA	0.512													False	0	False	6:76660589	0	C	76660589	T	C	76660589	3	2	88	1	0	0	0	0	1	0	0	0	7778	1667	58	4	899	4	IMPG1	6	76660589	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	159	76660589	94454478	7362	15074											
IMPG1	3617	broad.mit.edu	37	chr6	76744474	76744474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcgatccagaaagatcCgatatgcttcccatactgct	9	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76744474C>T	ENST00000369963.3	-	2	287	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	IMPG1_ENST00000369950.3_Missense_Mutation_p.R111Q			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	111					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.R111Q(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CAGAAAGATCCGATATGCTTC	0.488													False	0	False	6:76744474	0	T	76744474	C	T	76744474	3	4	88	1	0	0	0	0	1	0	0	0	7778	652	23	1	2121	1	IMPG1	6	76744474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83885	76744474	94370593	7363	15075											
IRAK1BP1	134728	broad.mit.edu	37	chr6	79595126	79595126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgtgacaaaggattttaGgagagtggaaaatgcttatc	11	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79595126G>A	ENST00000369940.2	+	2	452	c.347G>A	c.(346-348)aGg>aAg	p.R116K	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.R29K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	116					I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AAGGATTTTAGGAGAGTGGAA	0.318													False	0	False	6:79595126	0	A	79595126	G	A	79595126	3	1	88	1	0	0	0	0	1	0	0	0	7872	1000	35	2	353	2	IRAK1BP1	6	79595126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2850652	79595126	91519941	7364	15076											
PHIP	55023	broad.mit.edu	37	chr6	79650542	79650542	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagagtcatcctcattAtagaaagctgtccttcgacc	6	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79650542A>G	ENST00000275034.4	-	40	5501	c.5334T>C	c.(5332-5334)taT>taC	p.Y1778Y	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1778					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CATCCTCATTATAGAAAGCTG	0.428													False	0	False	6:79650542	0	G	79650542	A	G	79650542	2	3	88	1	0	0	0	0	0	0	0	1	11911	456	16	4		4	PHIP	6	79650542	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55416	79650542	91464525	7365	15077											
PHIP	55023	broad.mit.edu	37	chr6	79655978	79655978	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctttttttcctttcagggCtgtaaataaaatagtattgt	6	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79655978C>A	ENST00000275034.4	-	38	4538		c.e38-1		PHIP_ENST00000479165.1_Splice_Site	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein						insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCTTTCAGGGCTGTAAATAAA	0.328													False	0	True	6:79655978	0	A	79655978	C	A	79655978	5	1	88	1	0	0	0	0	0	0	1	0	11911	811	28	3	1107	3	PHIP	6	79655978	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5436	79655978	91459089	7366	15078											
PHIP	55023	broad.mit.edu	37	chr6	79671415	79671415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggttctaacctgtaaaaCctgttttccagtctttgttt	6	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79671415C>T	ENST00000275034.4	-	31	3815	c.3648G>A	c.(3646-3648)agG>agA	p.R1216R	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1216	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ACCTGTAAAACCTGTTTTCCA	0.408													False	0	True	6:79671415	0	T	79671415	C	T	79671415	2	4	88	1	0	0	0	0	0	0	0	1	11911	506	18	2		2	PHIP	6	79671415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15437	79671415	91443652	7367	15079											
PHIP	55023	broad.mit.edu	37	chr6	79692681	79692681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatttacttttttcttttcCtttttaatctgtttttgctt	2	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79692681C>T	ENST00000275034.4	-	23	2858	c.2691G>A	c.(2689-2691)aaG>aaA	p.K897K		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	897	Lys-rich.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ttttcttttcctttttaatct	0.308													False	0	True	6:79692681	0	T	79692681	C	T	79692681	2	4	88	1	0	0	0	0	0	0	0	1	11911	680	24	2		2	PHIP	6	79692681	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21266	79692681	91422386	7368	15080											
PHIP	55023	broad.mit.edu	37	chr6	79724895	79724895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagagaactctaggatcgaaCgggtgtggttcaagaacaaa	12	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79724895C>T	ENST00000275034.4	-	15	1595	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	476					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TAGGATCGAACGGGTGTGGTT	0.353													False	0	True	6:79724895	0	T	79724895	C	T	79724895	2	4	88	1	0	0	0	0	0	0	0	1	11911	523	19	1		1	PHIP	6	79724895	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32214	79724895	91390172	7369	15081											
LCA5	167691	broad.mit.edu	37	chr6	80197365	80197365	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggcaaaacagggtattttaGatttcgagaatcttggagtt	11	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80197365G>A	ENST00000392959.1	-	9	2061	c.1450C>T	c.(1450-1452)Cta>Tta	p.L484L	LCA5_ENST00000369846.4_Silent_p.L484L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	484					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GGGTATTTTAGATTTCGAGAA	0.388													False	0	False	6:80197365	0	A	80197365	G	A	80197365	2	1	88	1	0	0	0	0	0	0	0	1	8707	933	33	2		2	LCA5	6	80197365	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	472470	80197365	90917702	7370	15082											
LCA5	167691	broad.mit.edu	37	chr6	80198831	80198831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcaacctcctgttttaCgacatggagttcttcatctg	6	11	4	0	rs141821682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80198831C>T	ENST00000392959.1	-	8	1812	c.1201G>A	c.(1201-1203)Gta>Ata	p.V401I	LCA5_ENST00000467898.3_Missense_Mutation_p.V401I|LCA5_ENST00000369846.4_Missense_Mutation_p.V401I	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	401					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCCTGTTTTACGACATGGAGT	0.403													False	0	False	6:80198831	0	T	80198831	C	T	80198831	3	4	88	1	0	0	0	0	1	0	0	0	8707	536	19	1	900	1	LCA5	6	80198831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1466	80198831	90916236	7371	15083											
TTK	7272	broad.mit.edu	37	chr6	80723075	80723075	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgattcctgtgaattaagaAatttaaaggtattttaattc	6	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80723075A>C	ENST00000509894.1	+	9	1805	c.976A>C	c.(976-978)Aat>Cat	p.N326H	TTK_ENST00000369798.2_Missense_Mutation_p.N326H|TTK_ENST00000230510.3_Missense_Mutation_p.N326H			P33981	TTK_HUMAN	TTK protein kinase	326					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.N310H(1)|p.N326H(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTAAGAAATTTAAAGGT	0.358													False	0	True	6:80723075	0	C	80723075	A	C	80723075	3	2	88	1	0	0	0	0	1	0	0	0	16804	14	1	4	1006	4	TTK	6	80723075	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	524244	80723075	90391992	7372	15084											
BCKDHB	594	broad.mit.edu	37	chr6	80912929	80912929	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtggacacaatttgtaaGgtatgaatataatggtgata	11	2	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80912929G>T	ENST00000320393.6	+	8	998	c.951G>T	c.(949-951)aaG>aaT	p.K317N	BCKDHB_ENST00000356489.5_Splice_Site_p.K317N|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	317					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CAATTTGTAAGGTATGAATAT	0.368													False	0	False	6:80912929	0	T	80912929	G	T	80912929	5	4	88	1	0	0	0	0	0	0	1	0	1364	1014	35	3	981	3	BCKDHB	6	80912929	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189854	80912929	90202138	7373	15085											
DOPEY1	23033	broad.mit.edu	37	chr6	83810551	83810551	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcttgaaacatatgaaaTtatcttcaaaataattggac	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83810551T>G	ENST00000349129.2	+	4	526	c.266T>G	c.(265-267)aTt>aGt	p.I89S	DOPEY1_ENST00000369739.3_Missense_Mutation_p.I89S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.I89S|DOPEY1_ENST00000536812.1_Missense_Mutation_p.I89S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	89					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACATATGAAATTATCTTCAAA	0.338													False	0	True	6:83810551	0	G	83810551	T	G	83810551	3	3	88	1	0	0	0	0	1	0	0	0	4737	1493	52	4	272	4	DOPEY1	6	83810551	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2897622	83810551	87304516	7374	15086											
DOPEY1	23033	broad.mit.edu	37	chr6	83848714	83848714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacgagctttgcatcagcaCtgtgcatgtaagatgcaccc	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83848714C>T	ENST00000349129.2	+	21	5213	c.4953C>T	c.(4951-4953)caC>caT	p.H1651H	DOPEY1_ENST00000369739.3_Silent_p.H1642H|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Silent_p.H1632H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1651					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGCATCAGCACTGTGCATGTA	0.458													False	0	False	6:83848714	0	T	83848714	C	T	83848714	2	4	88	1	0	0	0	0	0	0	0	1	4737	564	20	2		2	DOPEY1	6	83848714	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38163	83848714	87266353	7375	15087											
DOPEY1	23033	broad.mit.edu	37	chr6	83866927	83866927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttgagagtctccgtttgCcacaggtgccaactctccat	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83866927C>T	ENST00000349129.2	+	35	6891	c.6631C>T	c.(6631-6633)Cca>Tca	p.P2211S	DOPEY1_ENST00000369739.3_Missense_Mutation_p.P2202S|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2211					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTCCGTTTGCCACAGGTGCC	0.393													False	0	False	6:83866927	0	T	83866927	C	T	83866927	3	4	88	1	0	0	0	0	1	0	0	0	4737	739	26	2	6761	2	DOPEY1	6	83866927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18213	83866927	87248140	7376	15088											
DOPEY1	23033	broad.mit.edu	37	chr6	83877656	83877656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctcaccatctgcaccGtgcgcagtatggagcagctc	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83877656G>A	ENST00000349129.2	+	39	7428	c.7168G>A	c.(7168-7170)Gtg>Atg	p.V2390M	PGM3_ENST00000512866.1_Intron|PGM3_ENST00000513973.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.V2401M|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.V2294M	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2390					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CATCTGCACCGTGCGCAGTAT	0.512													False	0	False	6:83877656	0	A	83877656	G	A	83877656	3	1	88	1	0	0	0	0	1	0	0	0	4737	1145	40	1	7314	1	DOPEY1	6	83877656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10729	83877656	87237411	7377	15089											
PGM3	5238	broad.mit.edu	37	chr6	83885690	83885690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaacttacagtgccatgCccatttgcttcaaaataaac	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83885690C>T	ENST00000513973.1	-	9	1235	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G	PGM3_ENST00000506587.1_Silent_p.G401G|PGM3_ENST00000512866.1_Silent_p.G373G|PGM3_ENST00000283977.4_Silent_p.G292G	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	373					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CAGTGCCATGCCCATTTGCTT	0.368													False	0	True	6:83885690	0	T	83885690	C	T	83885690	2	4	88	1	0	0	0	0	0	0	0	1	11869	726	26	2		2	PGM3	6	83885690	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8034	83885690	87229377	7378	15090											
PGM3	5238	broad.mit.edu	37	chr6	83900687	83900687	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggatcagtccattgggCttggcgtgtaatgctgagta	14	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83900687C>A	ENST00000513973.1	-	2	161	c.45G>T	c.(43-45)aaG>aaT	p.K15N	PGM3_ENST00000512866.1_Missense_Mutation_p.K15N|PGM3_ENST00000506587.1_Missense_Mutation_p.K43N|PGM3_ENST00000283977.4_Intron	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	15					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GTCCATTGGGCTTGGCGTGTA	0.393													False	0	True	6:83900687	0	A	83900687	C	A	83900687	3	1	88	1	0	0	0	0	1	0	0	0	11869	796	28	3	1631	3	PGM3	6	83900687	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14997	83900687	87214380	7379	15091											
ME1	4199	broad.mit.edu	37	chr6	83937109	83937109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttgctagttggattaCtcaaagcaaaaataataggc	8	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83937109C>T	ENST00000369705.3	-	11	1336	c.1220G>A	c.(1219-1221)aGt>aAt	p.S407N	ME1_ENST00000541327.1_Missense_Mutation_p.S241N|ME1_ENST00000543031.1_Missense_Mutation_p.S332N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	407					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AGTTGGATTACTCAAAGCAAA	0.333													False	0	False	6:83937109	0	T	83937109	C	T	83937109	3	4	88	1	0	0	0	0	1	0	0	0	9484	565	20	2	514	2	ME1	6	83937109	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36422	83937109	87177958	7380	15092											
ME1	4199	broad.mit.edu	37	chr6	83937191	83937191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgcaccaccaattgcagCaactcctaatgaagaaatat	6	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83937191C>T	ENST00000369705.3	-	11	1254	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T	ME1_ENST00000541327.1_Missense_Mutation_p.A214T|ME1_ENST00000543031.1_Missense_Mutation_p.A305T	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	380					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CCAATTGCAGCAACTCCTAAT	0.368													False	0	False	6:83937191	0	T	83937191	C	T	83937191	3	4	88	1	0	0	0	0	1	0	0	0	9484	710	25	2	596	2	ME1	6	83937191	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82	83937191	87177876	7381	15093											
PRSS35	167681	broad.mit.edu	37	chr6	84234319	84234319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttcagaaggactacaacGttgctgttcgcatcactccc	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84234319G>A	ENST00000536636.1	+	3	1504	c.1159G>A	c.(1159-1161)Gtt>Att	p.V387I	PRSS35_ENST00000369700.3_Missense_Mutation_p.V387I	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	387	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGACTACAACGTTGCTGTTCG	0.498													False	0	False	6:84234319	0	A	84234319	G	A	84234319	3	1	88	1	0	0	0	0	1	0	0	0	12700	1145	40	1	1161	1	PRSS35	6	84234319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297128	84234319	86880748	7382	15094											
SNAP91	9892	broad.mit.edu	37	chr6	84269857	84269857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcggcagctccaaaggggGgcctcatcatgggctgtgca	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84269857G>T	ENST00000428679.2	-	28	3190	c.2597C>A	c.(2596-2598)cCc>cAc	p.P866H	SNAP91_ENST00000521743.1_Missense_Mutation_p.P866H|SNAP91_ENST00000195649.6_Missense_Mutation_p.P861H|SNAP91_ENST00000369694.2_Missense_Mutation_p.P866H|SNAP91_ENST00000520302.1_Missense_Mutation_p.P836H|SNAP91_ENST00000439399.2_Missense_Mutation_p.P866H|SNAP91_ENST00000520213.1_Missense_Mutation_p.P559H|SNAP91_ENST00000437520.1_Missense_Mutation_p.P559H|SNAP91_ENST00000521485.1_Missense_Mutation_p.P861H			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	866	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCCAAAGGGGGGCCTCATCAT	0.517													False	0	True	6:84269857	0	T	84269857	G	T	84269857	3	4	88	1	0	0	0	0	1	0	0	0	14913	1232	43	3	134	3	SNAP91	6	84269857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35538	84269857	86845210	7383	15095											
SNAP91	9892	broad.mit.edu	37	chr6	84311055	84311055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtggaggcagaagctgagGcagttgcaatttcagcagtt	14	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84311055G>A	ENST00000428679.2	-	16	1852	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	SNAP91_ENST00000521743.1_Missense_Mutation_p.A420V|SNAP91_ENST00000195649.6_Missense_Mutation_p.A420V|SNAP91_ENST00000369694.2_Missense_Mutation_p.A420V|SNAP91_ENST00000520302.1_Missense_Mutation_p.A418V|SNAP91_ENST00000439399.2_Missense_Mutation_p.A420V|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.A420V			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	420	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGAAGCTGAGGCAGTTGCAAT	0.463													False	0	False	6:84311055	0	A	84311055	G	A	84311055	3	1	88	1	0	0	0	0	1	0	0	0	14913	1203	42	2	1520	2	SNAP91	6	84311055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41198	84311055	86804012	7384	15096											
SNAP91	9892	broad.mit.edu	37	chr6	84417642	84417642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatccgtgagcgtttggcccGacatcttctgtggtcgcgtc	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84417642G>A	ENST00000428679.2	-	2	598	c.5C>T	c.(4-6)tCg>tTg	p.S2L	SNAP91_ENST00000521743.1_Missense_Mutation_p.S2L|SNAP91_ENST00000195649.6_Missense_Mutation_p.S2L|SNAP91_ENST00000369694.2_Missense_Mutation_p.S2L|SNAP91_ENST00000520302.1_Missense_Mutation_p.S2L|SNAP91_ENST00000439399.2_Missense_Mutation_p.S2L|SNAP91_ENST00000520213.1_Missense_Mutation_p.S2L|SNAP91_ENST00000437520.1_Missense_Mutation_p.S2L|SNAP91_ENST00000521485.1_Missense_Mutation_p.S2L			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	2					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CGTTTGGCCCGACATCTTCTG	0.587													False	0	True	6:84417642	0	A	84417642	G	A	84417642	3	1	88	1	0	0	0	0	1	0	0	0	14913	1059	37	1	2826	1	SNAP91	6	84417642	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106587	84417642	86697425	7385	15097											
RIPPLY2	134701	broad.mit.edu	37	chr6	84566960	84566960	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catgttgtctgcttctttcaGactattttggccaaaatcaa	6	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84566960G>A	ENST00000369689.1	+	4	390		c.e4-1		RIPPLY2_ENST00000369687.1_Splice_Site	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2						somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						GCTTCTTTCAGACTATTTTGG	0.289													False	0	False	6:84566960	0	A	84566960	G	A	84566960	5	1	88	1	0	0	0	0	0	0	1	0	13464	956	33	2	253	2	RIPPLY2	6	84566960	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149318	84566960	86548107	7386	15098											
MRAP2	112609	broad.mit.edu	37	chr6	84798871	84798871	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtcagactttggaagaCctctggagccagataaagta	11	7	2	3	rs145761372	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84798871C>A	ENST00000257776.4	+	4	424	c.289C>A	c.(289-291)Cct>Act	p.P97T		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	97					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTTGGAAGACCTCTGGAGCC	0.433													False	0	False	6:84798871	0	A	84798871	C	A	84798871	3	1	88	1	0	0	0	0	1	0	0	0	9821	507	18	3	299	3	MRAP2	6	84798871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231911	84798871	86316196	7387	15099											
KIAA1009	22832	broad.mit.edu	37	chr6	84870536	84870536	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgaacacatacttgtcGctccagatcctgaatttttt	5	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84870536G>A	ENST00000403245.3	-	21	2890	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.R850*	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	926					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATACTTGTCGCTCCAGATCC	0.373													False	0	False	6:84870536	0	A	84870536	G	A	84870536	4	1	88	1	0	0	0	0	0	1	0	0	8253	1095	38	1	1463	1	KIAA1009	6	84870536	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71665	84870536	86244531	7388	15100											
KIAA1009	22832	broad.mit.edu	37	chr6	84879094	84879094	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgtaaaattctgatttcTtgtgggctctgaatcttcaa	7	7	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84879094T>C	ENST00000403245.3	-	18	2452	c.2338A>G	c.(2338-2340)Aga>Gga	p.R780G	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R704G	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	780					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTCTGATTTCTTGTGGGCTCT	0.318													False	0	False	6:84879094	0	C	84879094	T	C	84879094	3	2	88	1	0	0	0	0	1	0	0	0	8253	1617	56	4	1913	4	KIAA1009	6	84879094	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8558	84879094	86235973	7389	15101											
TBX18	9096	broad.mit.edu	37	chr6	85473690	85473690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggagcgcagcgccttcGtctccctcagaagaaccctt	12	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:85473690G>A	ENST00000369663.5	-	1	547	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	70					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAGCGCCTTCGTCTCCCTCAG	0.756													False	0	False	6:85473690	0	A	85473690	G	A	85473690	2	1	88	1	0	0	0	0	0	0	0	1	15735	1136	40	1		1	TBX18	6	85473690	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	594596	85473690	85641377	7390	15102											
NT5E	4907	broad.mit.edu	37	chr6	86197066	86197066	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttctagatccaagcataaaAgcagacattaacaaatggag	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86197066A>T	ENST00000257770.3	+	5	1012	c.963A>T	c.(961-963)aaA>aaT	p.K321N	NT5E_ENST00000369651.3_Missense_Mutation_p.K321N	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	321					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CAAGCATAAAAGCAGACATTA	0.363													False	0	True	6:86197066	0	T	86197066	A	T	86197066	3	4	88	1	0	0	0	0	1	0	0	0	10761	69	3	5	981	5	NT5E	6	86197066	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	723376	86197066	84918001	7391	15103											
SNX14	57231	broad.mit.edu	37	chr6	86223854	86223854	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgttctagtttacactgaaGatagtaatcagtatacattt	6	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86223854G>T	ENST00000314673.3	-	25	2667	c.2491C>A	c.(2491-2493)Ctt>Att	p.L831I	SNX14_ENST00000346348.3_Missense_Mutation_p.L778I|SNX14_ENST00000369627.2_Missense_Mutation_p.L822I|SNX14_ENST00000513865.1_Missense_Mutation_p.L550I|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.L779I	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	831					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTACACTGAAGATAGTAATCA	0.383													False	0	False	6:86223854	0	T	86223854	G	T	86223854	3	4	88	1	0	0	0	0	1	0	0	0	14965	942	33	3	369	3	SNX14	6	86223854	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26788	86223854	84891213	7392	15104											
SNX14	57231	broad.mit.edu	37	chr6	86256893	86256893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcagaaagttcataaaacGaaataaaagatcttgttgct	6	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86256893G>A	ENST00000314673.3	-	12	1221	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	SNX14_ENST00000346348.3_Missense_Mutation_p.R305C|SNX14_ENST00000369627.2_Missense_Mutation_p.R349C|SNX14_ENST00000513865.1_Missense_Mutation_p.R349C|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.R297C	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	349	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTCATAAAACGAAATAAAAGA	0.338													False	0	True	6:86256893	0	A	86256893	G	A	86256893	3	1	88	1	0	0	0	0	1	0	0	0	14965	1058	37	1	1867	1	SNX14	6	86256893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33039	86256893	84858174	7393	15105											
SNX14	57231	broad.mit.edu	37	chr6	86259508	86259508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaagtttccttaaatagtGcaattcatctcttcgacttc	5	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86259508G>A	ENST00000314673.3	-	8	900	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	SNX14_ENST00000346348.3_Missense_Mutation_p.H198Y|SNX14_ENST00000369627.2_Missense_Mutation_p.H242Y|SNX14_ENST00000513865.1_Missense_Mutation_p.H242Y|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.H190Y	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	242	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CTTAAATAGTGCAATTCATCT	0.333													False	0	False	6:86259508	0	A	86259508	G	A	86259508	3	1	88	1	0	0	0	0	1	0	0	0	14965	1319	46	2	2204	2	SNX14	6	86259508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2615	86259508	84855559	7394	15106											
SYNCRIP	10492	broad.mit.edu	37	chr6	86324728	86324728	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttgttgttgggcacctcCtctcgcacctcgaacgcctc	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86324728C>A	ENST00000355238.6	-	11	1824	c.1618G>T	c.(1618-1620)Gga>Tga	p.G540*	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.E75D|SYNCRIP_ENST00000369622.3_Nonsense_Mutation_p.G540*	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	540	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TGGGCACCTCCTCTCGCACCT	0.622													False	0	False	6:86324728	0	A	86324728	C	A	86324728	4	1	88	1	0	0	0	0	0	1	0	0	15526	690	24	3	303	3	SYNCRIP	6	86324728	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65220	86324728	84790339	7395	15107											
SYNCRIP	10492	broad.mit.edu	37	chr6	86346734	86346734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtacaaaaagtgacaaacGcataacctctattgagacca	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86346734G>A	ENST00000355238.6	-	6	823	c.617C>T	c.(616-618)gCg>gTg	p.A206V	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.A206V	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	206	RRM 1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AGTGACAAACGCATAACCTCT	0.393													False	0	False	6:86346734	0	A	86346734	G	A	86346734	3	1	88	1	0	0	0	0	1	0	0	0	15526	1087	38	1	1324	1	SYNCRIP	6	86346734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22006	86346734	84768333	7396	15108											
CGA	1081	broad.mit.edu	37	chr6	87796039	87796039	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccaacatcgtcttctTggaccttagtggagtgggat	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87796039T>C	ENST00000369582.2	-	3	302	c.202A>G	c.(202-204)Aag>Gag	p.K68E		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	68					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		ATCGTCTTCTTGGACCTTAGT	0.493													False	0	False	6:87796039	0	C	87796039	T	C	87796039	3	2	88	1	0	0	0	0	1	0	0	0	3318	1821	63	4	156	4	CGA	6	87796039	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1449305	87796039	83319028	7397	15109											
ZNF292	23036	broad.mit.edu	37	chr6	87968327	87968327	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaatgggactcatagcaaaGagtgttgaaatcccaactac	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87968327G>A	ENST00000369577.3	+	8	5023	c.4980G>A	c.(4978-4980)aaG>aaA	p.K1660K	ZNF292_ENST00000339907.4_Silent_p.K1655K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCATAGCAAAGAGTGTTGAAA	0.363													False	0	True	6:87968327	0	A	87968327	G	A	87968327	2	1	88	1	0	0	0	0	0	0	0	1	17909	933	33	2		2	ZNF292	6	87968327	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172288	87968327	83146740	7398	15110											
ZNF292	23036	broad.mit.edu	37	chr6	87968743	87968743	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattcagcttccttcagtaaAcactgtgcaaaataacaaat	4	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87968743A>G	ENST00000369577.3	+	8	5439	c.5396A>G	c.(5395-5397)aAc>aGc	p.N1799S	ZNF292_ENST00000339907.4_Missense_Mutation_p.N1794S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCTTCAGTAAACACTGTGCAA	0.353													False	0	True	6:87968743	0	G	87968743	A	G	87968743	3	3	88	1	0	0	0	0	1	0	0	0	17909	43	2	4	5426	4	ZNF292	6	87968743	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	416	87968743	83146324	7399	15111											
ZNF292	23036	broad.mit.edu	37	chr6	87970601	87970601	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttatctaaggcatttacatcAcaacaccgaaatcttcttat	3	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87970601A>C	ENST00000369577.3	+	8	7297	c.7254A>C	c.(7252-7254)tcA>tcC	p.S2418S	ZNF292_ENST00000339907.4_Silent_p.S2413S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATTTACATCACAACACCGAA	0.343													False	0	False	6:87970601	0	C	87970601	A	C	87970601	2	2	88	1	0	0	0	0	0	0	0	1	17909	146	6	4		4	ZNF292	6	87970601	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1858	87970601	83144466	7400	15112											
GJB7	0	broad.mit.edu	37	chr6	87994334	87994334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgccttttctctctaccCtcatgataggctacatgtaa	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87994334C>A	ENST00000525899.1	-	3	642	c.297G>T	c.(295-297)gaG>gaT	p.E99D	GJB7_ENST00000296882.3_Missense_Mutation_p.E99D	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	99					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		TCTCTCTACCCTCATGATAGG	0.448													False	0	True	6:87994334	0	A	87994334	C	A	87994334	3	1	88	1	0	0	0	0	1	0	0	0	6458	680	24	3	378	3	GJB7	6	87994334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23733	87994334	83120733	7401	15113											
C6orf165	154313	broad.mit.edu	37	chr6	88119631	88119631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaagaatgtgcagcccatgGagagattgtttctgaaactc	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88119631G>A	ENST00000507897.1	+	2	157	c.74G>A	c.(73-75)gGa>gAa	p.G25E	C6ORF165_ENST00000369562.4_Missense_Mutation_p.G25E			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	25										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GCAGCCCATGGAGAGATTGTT	0.333													False	0	True	6:88119631	0	A	88119631	G	A	88119631	3	1	88	1	0	0	0	0	1	0	0	0	2358	1174	41	2	76	2	C6orf165	6	88119631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125297	88119631	82995436	7402	15114											
RARS2	57038	broad.mit.edu	37	chr6	88229394	88229394	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttcgagtcttcattcCctgtactactccaaagggca	6	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88229394C>A	ENST00000369536.5	-	14	1189	c.1144G>T	c.(1144-1146)Gga>Tga	p.G382*		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	382					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GTCTTCATTCCCTGTACTACT	0.403													False	0	True	6:88229394	0	A	88229394	C	A	88229394	4	1	88	1	0	0	0	0	0	1	0	0	13138	632	22	3	620	3	RARS2	6	88229394	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109763	88229394	82885673	7403	15115											
RARS2	57038	broad.mit.edu	37	chr6	88240541	88240541	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaatgctcaagtcccgAaatttttgccacagtgaaag	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88240541A>C	ENST00000369536.5	-	9	777	c.732T>G	c.(730-732)ttT>ttG	p.F244L		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	244					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TCAAGTCCCGAAATTTTTGCC	0.473													False	0	True	6:88240541	0	C	88240541	A	C	88240541	3	2	88	1	0	0	0	0	1	0	0	0	13138	243	9	4	1052	4	RARS2	6	88240541	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11147	88240541	82874526	7404	15116											
RARS2	57038	broad.mit.edu	37	chr6	88240658	88240658	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttattaacttgtacataAacctaaaagtacaatagtac	3	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88240658A>C	ENST00000369536.5	-	9	660	c.615T>G	c.(613-615)gtT>gtG	p.V205V		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	205					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CTTGTACATAAACCTAAAAGT	0.358													False	0	True	6:88240658	0	C	88240658	A	C	88240658	2	2	88	1	0	0	0	0	0	0	0	1	13138	1	1	4		4	RARS2	6	88240658	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	117	88240658	82874409	7405	15117											
RARS2	57038	broad.mit.edu	37	chr6	88272489	88272489	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactgatttcactcaccacTgtatcacatcttagctgaaa	5	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88272489T>C	ENST00000369536.5	-	4	273	c.228A>G	c.(226-228)acA>acG	p.T76T		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	76					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CACTCACCACTGTATCACATC	0.338													False	0	False	6:88272489	0	C	88272489	T	C	88272489	2	2	88	1	0	0	0	0	0	0	0	1	13138	1567	55	4		4	RARS2	6	88272489	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31831	88272489	82842578	7406	15118											
SPACA1	81833	broad.mit.edu	37	chr6	88763711	88763711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaattcggaatgtgcaccGttacatgtggtaagtagctt	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88763711G>A	ENST00000237201.1	+	2	373	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	86						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AATGTGCACCGTTACATGTGG	0.348													False	0	False	6:88763711	0	A	88763711	G	A	88763711	3	1	88	1	0	0	0	0	1	0	0	0	15052	1145	40	1	262	1	SPACA1	6	88763711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491222	88763711	82351356	7407	15119											
SPACA1	81833	broad.mit.edu	37	chr6	88768475	88768475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgaaagtgttagattgGcatgtattcacacatctccc	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88768475G>A	ENST00000237201.1	+	4	526	c.409G>A	c.(409-411)Gca>Aca	p.A137T		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	137						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TGTTAGATTGGCATGTATTCA	0.333													False	0	False	6:88768475	0	A	88768475	G	A	88768475	3	1	88	1	0	0	0	0	1	0	0	0	15052	1203	42	2	423	2	SPACA1	6	88768475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4764	88768475	82346592	7408	15120											
CNR1	0	broad.mit.edu	37	chr6	88853707	88853707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgtttgtgcaggcagtcCgagtcccccatgctgttatc	12	12	0	0	rs149238893		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88853707C>T	ENST00000537554.1	-	2	4849	c.1287G>A	c.(1285-1287)tcG>tcA	p.S429S	CNR1_ENST00000428600.2_Silent_p.S429S|CNR1_ENST00000549716.1_Silent_p.S368S|CNR1_ENST00000369499.2_Silent_p.S429S|CNR1_ENST00000535130.1_Silent_p.S429S|CNR1_ENST00000549890.1_Silent_p.S429S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Silent_p.S429S|CNR1_ENST00000468898.1_Silent_p.S396S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	429					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GCAGGCAGTCCGAGTCCCCCA	0.547													False	0	False	6:88853707	0	T	88853707	C	T	88853707	2	4	88	1	0	0	0	0	0	0	0	1	3654	639	23	1		1	CNR1	6	88853707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85232	88853707	82261360	7409	15121											
PNRC1	10957	broad.mit.edu	37	chr6	89790706	89790706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgaggttactttggggcCctcccgatggtgaccacggc	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:89790706C>T	ENST00000336032.3	+	1	210	c.93C>T	c.(91-93)gcC>gcT	p.A31A	PNRC1_ENST00000369472.1_Intron	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		ACTTTGGGGCCCTCCCGATGG	0.677										Multiple Myeloma(7;0.094)			False	0	True	6:89790706	0	T	89790706	C	T	89790706	2	4	88	1	0	0	0	0	0	0	0	1	12243	610	22	2		2	PNRC1	6	89790706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	936999	89790706	81324361	7410	15122											
PM20D2	135293	broad.mit.edu	37	chr6	89868116	89868116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctatggaaagcctatatgGaaaatggaagaaagctagga	12	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:89868116G>A	ENST00000275072.4	+	5	1080	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	329							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AGCCTATATGGAAAATGGAAG	0.318													False	0	True	6:89868116	0	A	89868116	G	A	89868116	3	1	88	1	0	0	0	0	1	0	0	0	12198	1175	41	2	1003	2	PM20D2	6	89868116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77410	89868116	81246951	7411	15123											
UBE2J1	51465	broad.mit.edu	37	chr6	90053428	90053428	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggctgcgcatggtaatgatCtgttggatctttcaattctg	11	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90053428C>A	ENST00000435041.2	-	2	357	c.79G>T	c.(79-81)Gat>Tat	p.D27Y		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	27						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TGGTAATGATCTGTTGGATCT	0.269													False	0	False	6:90053428	0	A	90053428	C	A	90053428	3	1	88	1	0	0	0	0	1	0	0	0	16944	913	32	3	905	3	UBE2J1	6	90053428	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185312	90053428	81061639	7412	15124											
RRAGD	58528	broad.mit.edu	37	chr6	90097100	90097100	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaaaaagtcaatctgtcCtgggaagtcccaaatctgaa	8	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90097100C>A	ENST00000369415.4	-	2	634	c.358G>T	c.(358-360)Gga>Tga	p.G120*	RRAGD_ENST00000359203.3_Intron|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	120					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TCAATCTGTCCTGGGAAGTCC	0.433													False	0	False	6:90097100	0	A	90097100	C	A	90097100	4	1	88	1	0	0	0	0	0	1	0	0	13754	690	24	3	868	3	RRAGD	6	90097100	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43672	90097100	81017967	7413	15125											
MDN1	23195	broad.mit.edu	37	chr6	90390433	90390433	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaagctccccttccaagccgGaaggagcagcgccctgacac	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90390433G>T	ENST00000369393.3	-	74	12255	c.12140C>A	c.(12139-12141)tCc>tAc	p.S4047Y	MDN1_ENST00000428876.1_Missense_Mutation_p.S4047Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4047					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCCAAGCCGGAAGGAGCAGC	0.572													False	0	False	6:90390433	0	T	90390433	G	T	90390433	3	4	88	1	0	0	0	0	1	0	0	0	9482	1174	41	3	4766	3	MDN1	6	90390433	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293333	90390433	80724634	7414	15126											
MDN1	23195	broad.mit.edu	37	chr6	90402593	90402593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtactcctctgacaGccgcttccggaactggtggt	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90402593G>A	ENST00000369393.3	-	63	10271	c.10156C>T	c.(10156-10158)Ctg>Ttg	p.L3386L	MDN1_ENST00000428876.1_Silent_p.L3386L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3386					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTCTGACAGCCGCTTCCGG	0.582													False	0	False	6:90402593	0	A	90402593	G	A	90402593	2	1	88	1	0	0	0	0	0	0	0	1	9482	962	34	2		2	MDN1	6	90402593	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12160	90402593	80712474	7415	15127											
MDN1	23195	broad.mit.edu	37	chr6	90406082	90406082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgagggaatacctgAattctgctactgaagagata	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90406082A>G	ENST00000369393.3	-	60	9495	c.9380T>C	c.(9379-9381)tTc>tCc	p.F3127S	MDN1_ENST00000428876.1_Missense_Mutation_p.F3127S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3127					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGAATACCTGAATTCTGCTAC	0.498													False	0	False	6:90406082	0	G	90406082	A	G	90406082	3	3	88	1	0	0	0	0	1	0	0	0	9482	246	9	4	7582	4	MDN1	6	90406082	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3489	90406082	80708985	7416	15128											
MDN1	23195	broad.mit.edu	37	chr6	90406269	90406269	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagcacttagagaataTgggtctattgagattgccgg	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90406269T>C	ENST00000369393.3	-	60	9308	c.9193A>G	c.(9193-9195)Ata>Gta	p.I3065V	MDN1_ENST00000428876.1_Missense_Mutation_p.I3065V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3065					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTAGAGAATATGGGTCTATTG	0.473													False	0	True	6:90406269	0	C	90406269	T	C	90406269	3	2	88	1	0	0	0	0	1	0	0	0	9482	1464	51	4	7769	4	MDN1	6	90406269	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	187	90406269	80708798	7417	15129											
MDN1	23195	broad.mit.edu	37	chr6	90411377	90411377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgaatatgttctgagacaGtctgaacttctttgtaatat	7	6	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90411377G>T	ENST00000369393.3	-	55	8442	c.8327C>A	c.(8326-8328)aCt>aAt	p.T2776N	MDN1_ENST00000428876.1_Missense_Mutation_p.T2776N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2776					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCTGAGACAGTCTGAACTTC	0.423													False	0	False	6:90411377	0	T	90411377	G	T	90411377	3	4	88	1	0	0	0	0	1	0	0	0	9482	1029	36	3	8655	3	MDN1	6	90411377	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5108	90411377	80703690	7418	15130											
MDN1	23195	broad.mit.edu	37	chr6	90417165	90417165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatttgcttcagtaaaaacCcgtttttcccggtcaagata	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90417165C>T	ENST00000369393.3	-	52	8044	c.7929G>A	c.(7927-7929)cgG>cgA	p.R2643R	MDN1_ENST00000428876.1_Silent_p.R2643R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2643					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGTAAAAACCCGTTTTTCCC	0.338													False	0	True	6:90417165	0	T	90417165	C	T	90417165	2	4	88	1	0	0	0	0	0	0	0	1	9482	610	22	2		2	MDN1	6	90417165	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5788	90417165	80697902	7419	15131											
MDN1	23195	broad.mit.edu	37	chr6	90455062	90455062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactagcatcgcgagtctccGcatgccctcagtccacacga	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90455062G>A	ENST00000369393.3	-	29	4223	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	MDN1_ENST00000428876.1_Missense_Mutation_p.R1370W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1370					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCGAGTCTCCGCATGCCCTCA	0.453													False	0	False	6:90455062	0	A	90455062	G	A	90455062	3	1	88	1	0	0	0	0	1	0	0	0	9482	1086	38	1	12978	1	MDN1	6	90455062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37897	90455062	80660005	7420	15132											
MDN1	23195	broad.mit.edu	37	chr6	90463282	90463282	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaatgtgttgacagatgagCttctgaactattgggtgtga	12	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90463282C>A	ENST00000369393.3	-	22	3139	c.3024G>T	c.(3022-3024)aaG>aaT	p.K1008N	MDN1_ENST00000428876.1_Missense_Mutation_p.K1008N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1008					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACAGATGAGCTTCTGAACTA	0.378													False	0	False	6:90463282	0	A	90463282	C	A	90463282	3	1	88	1	0	0	0	0	1	0	0	0	9482	796	28	3	14090	3	MDN1	6	90463282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8220	90463282	80651785	7421	15133											
MDN1	23195	broad.mit.edu	37	chr6	90463339	90463339	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttaagaaacccaaacaaaaAccctagaaagaaaagacaaa	5	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90463339A>G	ENST00000369393.3	-	22	3082	c.2967T>C	c.(2965-2967)ggT>ggC	p.G989G	MDN1_ENST00000428876.1_Silent_p.G989G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	989					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCAAACAAAAACCCTAGAAAG	0.398													False	0	True	6:90463339	0	G	90463339	A	G	90463339	2	3	88	1	0	0	0	0	0	0	0	1	9482	30	2	4		4	MDN1	6	90463339	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57	90463339	80651728	7422	15134											
MDN1	23195	broad.mit.edu	37	chr6	90494754	90494754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcagttctctcttatccaGgttatccaggtgaattttgg	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90494754G>A	ENST00000369393.3	-	9	1541	c.1426C>T	c.(1426-1428)Ctg>Ttg	p.L476L	MDN1_ENST00000428876.1_Silent_p.L476L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	476					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCTTATCCAGGTTATCCAGG	0.438													False	0	True	6:90494754	0	A	90494754	G	A	90494754	2	1	88	1	0	0	0	0	0	0	0	1	9482	991	35	2		2	MDN1	6	90494754	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31415	90494754	80620313	7423	15135											
MDN1	23195	broad.mit.edu	37	chr6	90504402	90504402	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagaaacttgaaggctgcttCcattaggtcccggagcttca	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90504402C>A	ENST00000369393.3	-	3	563	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.E150*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	150					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGGCTGCTTCCATTAGGTCC	0.522													False	0	False	6:90504402	0	A	90504402	C	A	90504402	4	1	88	1	0	0	0	0	0	1	0	0	9482	864	30	3	16742	3	MDN1	6	90504402	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9648	90504402	80610665	7424	15136											
MDN1	23195	broad.mit.edu	37	chr6	90513085	90513085	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaccaatgagtttgctcatCgacacacatagccgttcatg	7	11	2	1	rs143953044		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90513085C>T	ENST00000369393.3	-	2	406	c.291G>A	c.(289-291)tcG>tcA	p.S97S	MDN1_ENST00000428876.1_Silent_p.S97S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	97					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTTGCTCATCGACACACATA	0.473													False	0	False	6:90513085	0	T	90513085	C	T	90513085	2	4	88	1	0	0	0	0	0	0	0	1	9482	871	31	1		1	MDN1	6	90513085	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8683	90513085	80601982	7425	15137											
CASP8AP2	9994	broad.mit.edu	37	chr6	90573238	90573238	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgcaagttaaaacagtgGcatatgttccctccataagt	7	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90573238G>A	ENST00000551025.1	+	0	3247							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TAAAACAGTGGCATATGTTCC	0.423													False	0	False	6:90573238	0	A	90573238	G	A	90573238	1	1	88	0	1	0	0	0	0	0	0	0	2698	1203	42	2		2	CASP8AP2	6	90573238	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60153	90573238	80541829	7426	15138											
CASP8AP2	9994	broad.mit.edu	37	chr6	90576760	90576760	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaagaactctcaatccgaaGagcgctccttggaagtacac	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90576760G>T	ENST00000551025.1	+	0	5188							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCAATCCGAAGAGCGCTCCTT	0.378													False	0	False	6:90576760	0	T	90576760	G	T	90576760	1	4	88	0	1	0	0	0	0	0	0	0	2698	943	33	3		3	CASP8AP2	6	90576760	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3522	90576760	80538307	7427	15139											
CASP8AP2	9994	broad.mit.edu	37	chr6	90578207	90578207	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caattctttgcaggctgataCtgtaggtgcttttattgatt	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90578207C>T	ENST00000551025.1	+	0	6635							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAGGCTGATACTGTAGGTGCT	0.388													False	0	False	6:90578207	0	T	90578207	C	T	90578207	1	4	88	0	1	0	0	0	0	0	0	0	2698	565	20	2		2	CASP8AP2	6	90578207	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1447	90578207	80536860	7428	15140											
CASP8AP2	9994	broad.mit.edu	37	chr6	90578293	90578293	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattagctgtggaagacTtgggatgtggggtgatacag	16	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90578293T>C	ENST00000551025.1	+	0	6721							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGTGGAAGACTTGGGATGTGG	0.403													False	0	False	6:90578293	0	C	90578293	T	C	90578293	1	2	88	0	1	0	0	0	0	0	0	0	2698	1606	56	4		4	CASP8AP2	6	90578293	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86	90578293	80536774	7429	15141											
BACH2	60468	broad.mit.edu	37	chr6	90647962	90647962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgcgccgtcggacatcAtgaataaactctaactgttc	8	11	2	1	rs151085282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90647962A>G	ENST00000257749.4	-	8	2651	c.1944T>C	c.(1942-1944)caT>caC	p.H648H	BACH2_ENST00000537989.1_Silent_p.H648H|BACH2_ENST00000343122.3_Silent_p.H648H	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	648						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTCGGACATCATGAATAAACT	0.443													False	0	False	6:90647962	0	G	90647962	A	G	90647962	2	3	88	1	0	0	0	0	0	0	0	1	1288	214	8	4		4	BACH2	6	90647962	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69669	90647962	80467105	7430	15142											
MAP3K7	6885	broad.mit.edu	37	chr6	91254333	91254333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagttttacggtggcccCgtttaggcttggaataggct	13	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:91254333C>T	ENST00000369329.3	-	12	1390	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	MAP3K7_ENST00000369325.3_Missense_Mutation_p.R410Q|MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369332.3_Intron|MAP3K7_ENST00000369320.1_Intron	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	410					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACGGTGGCCCCGTTTAGGCTT	0.408													False	0	True	6:91254333	0	T	91254333	C	T	91254333	3	4	88	1	0	0	0	0	1	0	0	0	9322	652	23	1	615	1	MAP3K7	6	91254333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	606371	91254333	79860734	7431	15143											
EPHA7	2045	broad.mit.edu	37	chr6	93967929	93967929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtaaccaactttcagGgtttttatggctactgcaac	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:93967929G>A	ENST00000369303.4	-	11	2182	c.1998C>T	c.(1996-1998)acC>acT	p.T666T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	666	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAACTTTCAGGGTTTTTATGG	0.448													False	0	True	6:93967929	0	A	93967929	G	A	93967929	2	1	88	1	0	0	0	0	0	0	0	1	5204	1219	43	2		2	EPHA7	6	93967929	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2713596	93967929	77147138	7432	15144											
EPHA7	2045	broad.mit.edu	37	chr6	94124474	94124474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtttgttgtgctttagaatCcagcagtagtactgaaaaag	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:94124474C>T	ENST00000369303.4	-	2	293	c.109G>A	c.(109-111)Gat>Aat	p.D37N	EPHA7_ENST00000369297.1_Missense_Mutation_p.D37N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	37						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTTTAGAATCCAGCAGTAGT	0.318													False	0	False	6:94124474	0	T	94124474	C	T	94124474	3	4	88	1	0	0	0	0	1	0	0	0	5204	855	30	2	2951	2	EPHA7	6	94124474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156545	94124474	76990593	7433	15145											
KLHL32	114792	broad.mit.edu	37	chr6	97562152	97562152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtcgctatgacccccGcagtaattcctgggcagaga	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97562152G>A	ENST00000369261.4	+	7	1484	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	KLHL32_ENST00000539200.1_Missense_Mutation_p.R305H|KLHL32_ENST00000536676.1_Missense_Mutation_p.R338H|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	374								p.R374H(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TATGACCCCCGCAGTAATTCC	0.567													False	0	True	6:97562152	0	A	97562152	G	A	97562152	3	1	88	1	0	0	0	0	1	0	0	0	8436	1087	38	1	1143	1	KLHL32	6	97562152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3437678	97562152	73552915	7434	15146											
KLHL32	114792	broad.mit.edu	37	chr6	97578726	97578726	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttatgttcttggaggcaatGacctagactacaataatgac	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97578726G>A	ENST00000369261.4	+	9	1870	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	KLHL32_ENST00000539200.1_Missense_Mutation_p.D434N|KLHL32_ENST00000536676.1_Missense_Mutation_p.D467N|KLHL32_ENST00000544166.1_Missense_Mutation_p.D59N	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	503										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGGAGGCAATGACCTAGACTA	0.453													False	0	False	6:97578726	0	A	97578726	G	A	97578726	3	1	88	1	0	0	0	0	1	0	0	0	8436	1290	45	2	1537	2	KLHL32	6	97578726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16574	97578726	73536341	7435	15147											
POU3F2	5454	broad.mit.edu	37	chr6	99283976	99283976	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtaacaggagacagaaagaGaaaaggatgacccctcccgg	12	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99283976G>T	ENST00000328345.5	+	1	1397	c.1227G>T	c.(1225-1227)gaG>gaT	p.E409D		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	409					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GACAGAAAGAGAAAAGGATGA	0.627													False	0	True	6:99283976	0	T	99283976	G	T	99283976	3	4	88	1	0	0	0	0	1	0	0	0	12344	933	33	3	1229	3	POU3F2	6	99283976	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1705250	99283976	71831091	7436	15148											
FBXL4	26235	broad.mit.edu	37	chr6	99347191	99347191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtttaaggctgcataactTggcaatgtggttgaaagctt	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99347191T>C	ENST00000369244.2	-	7	1698	c.1270A>G	c.(1270-1272)Aag>Gag	p.K424E	FBXL4_ENST00000229971.1_Missense_Mutation_p.K424E	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	424					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CTGCATAACTTGGCAATGTGG	0.383													False	0	False	6:99347191	0	C	99347191	T	C	99347191	3	2	88	1	0	0	0	0	1	0	0	0	5761	1821	63	4	611	4	FBXL4	6	99347191	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63215	99347191	71767876	7437	15149											
FBXL4	26235	broad.mit.edu	37	chr6	99347219	99347219	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttgaaagcttgaggtggTagcttatcacaggaggagag	16	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99347219T>C	ENST00000369244.2	-	7	1670	c.1242A>G	c.(1240-1242)ctA>ctG	p.L414L	FBXL4_ENST00000229971.1_Silent_p.L414L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	414					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CTTGAGGTGGTAGCTTATCAC	0.383													False	0	False	6:99347219	0	C	99347219	T	C	99347219	2	2	88	1	0	0	0	0	0	0	0	1	5761	1625	57	4		4	FBXL4	6	99347219	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28	99347219	71767848	7438	15150											
FBXL4	26235	broad.mit.edu	37	chr6	99374837	99374837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataataaaacatggtcagaaCtgttaacatgggaaagaccg	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99374837C>T	ENST00000369244.2	-	4	456	c.28G>A	c.(28-30)Gtt>Att	p.V10I	FBXL4_ENST00000229971.1_Missense_Mutation_p.V10I	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	10					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATGGTCAGAACTGTTAACATG	0.428													False	0	False	6:99374837	0	T	99374837	C	T	99374837	3	4	88	1	0	0	0	0	1	0	0	0	5761	565	20	2	1865	2	FBXL4	6	99374837	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27618	99374837	71740230	7439	15151											
USP45	85015	broad.mit.edu	37	chr6	99883713	99883713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgattcattatcagccGctttcaaacctagcaaaaca	5	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99883713G>A	ENST00000327681.6	-	18	2856	c.2324C>T	c.(2323-2325)gCg>gTg	p.A775V	USP45_ENST00000539675.1_Missense_Mutation_p.A68V|USP45_ENST00000369233.2_Missense_Mutation_p.A727V|USP45_ENST00000392738.2_Missense_Mutation_p.A455V|USP45_ENST00000500704.2_Missense_Mutation_p.A775V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	775					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATTATCAGCCGCTTTCAAACC	0.368													False	0	False	6:99883713	0	A	99883713	G	A	99883713	3	1	88	1	0	0	0	0	1	0	0	0	17160	1087	38	1	124	1	USP45	6	99883713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	508876	99883713	71231354	7440	15152											
USP45	85015	broad.mit.edu	37	chr6	99893884	99893884	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcttcccctctaaaaaAcataaattatttgaaatatt	2	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99893884A>G	ENST00000327681.6	-	14	2296	c.1764T>C	c.(1762-1764)tgT>tgC	p.C588C	USP45_ENST00000539675.1_Intron|USP45_ENST00000369233.2_Silent_p.C540C|USP45_ENST00000392738.2_Silent_p.C268C|USP45_ENST00000500704.2_Silent_p.C588C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	588					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CCTCTAAAAAACATAAATTAT	0.353													False	0	True	6:99893884	0	G	99893884	A	G	99893884	2	3	88	1	0	0	0	0	0	0	0	1	17160	41	2	4		4	USP45	6	99893884	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10171	99893884	71221183	7441	15153											
PRDM13	59336	broad.mit.edu	37	chr6	100055036	100055036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgtcagaccgcagggaGcccgggcctaagaaaaaggt	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100055036G>A	ENST00000369215.4	+	1	431	c.126G>A	c.(124-126)gaG>gaA	p.E42E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	42	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACCGCAGGGAGCCCGGGCCTA	0.622													False	0	True	6:100055036	0	A	100055036	G	A	100055036	2	1	88	1	0	0	0	0	0	0	0	1	12530	962	34	2		2	PRDM13	6	100055036	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161152	100055036	71060031	7442	15154											
PRDM13	59336	broad.mit.edu	37	chr6	100057116	100057116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggaggagctgacagtgtgGtattctaactccttggctca	14	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100057116G>T	ENST00000369215.4	+	3	635	c.330G>T	c.(328-330)tgG>tgT	p.W110C		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	110	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TGACAGTGTGGTATTCTAACT	0.522													False	0	False	6:100057116	0	T	100057116	G	T	100057116	3	4	88	1	0	0	0	0	1	0	0	0	12530	1270	44	3	340	3	PRDM13	6	100057116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2080	100057116	71057951	7443	15155											
PRDM13	59336	broad.mit.edu	37	chr6	100062174	100062174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggccgtcgcggcggcgggaGgcaccgggggcggcggcagc	23	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100062174G>T	ENST00000369215.4	+	4	1968	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	555	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ggcggcgggaggcaccggggg	0.701													False	0	False	6:100062174	0	T	100062174	G	T	100062174	3	4	88	1	0	0	0	0	1	0	0	0	12530	1000	35	3	1677	3	PRDM13	6	100062174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5058	100062174	71052893	7444	15156											
MCHR2	84539	broad.mit.edu	37	chr6	100395675	100395675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcatgatggcactacaggCaaattggttacaagtatcca	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100395675C>T	ENST00000281806.2	-	3	669	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	MCHR2_ENST00000369212.2_Missense_Mutation_p.A119T	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	119						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCACTACAGGCAAATTGGTTA	0.468													False	0	True	6:100395675	0	T	100395675	C	T	100395675	3	4	88	1	0	0	0	0	1	0	0	0	9450	710	25	2	683	2	MCHR2	6	100395675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333501	100395675	70719392	7445	15157											
SIM1	6492	broad.mit.edu	37	chr6	100897277	100897277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccggcgttacgcttggCcaagacgcacttcatcctca	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100897277C>T	ENST00000369208.3	-	6	1287	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	SIM1_ENST00000262901.4_Missense_Mutation_p.A169T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	169					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTACGCTTGGCCAAGACGCAC	0.632													False	0	False	6:100897277	0	T	100897277	C	T	100897277	3	4	88	1	0	0	0	0	1	0	0	0	14404	739	26	2	1823	2	SIM1	6	100897277	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	501602	100897277	70217790	7446	15158											
ASCC3	10973	broad.mit.edu	37	chr6	101054895	101054895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgtagtccagcatgatGcattcctatcccgaaagcaa	7	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101054895G>A	ENST00000369162.2	-	31	5199	c.4855C>T	c.(4855-4857)Cat>Tat	p.H1619Y		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1619	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCAGCATGATGCATTCCTATC	0.383													False	0	False	6:101054895	0	A	101054895	G	A	101054895	3	1	88	1	0	0	0	0	1	0	0	0	1037	1319	46	2	1801	2	ASCC3	6	101054895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157618	101054895	70060172	7447	15159											
ASCC3	10973	broad.mit.edu	37	chr6	101075801	101075801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattctaacaggcttttctgTgtgtgatgagataaaatttg	9	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101075801T>C	ENST00000369162.2	-	28	4782	c.4438A>G	c.(4438-4440)Aca>Gca	p.T1480A		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1480	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGCTTTTCTGTGTGTGATGAG	0.373													False	0	True	6:101075801	0	C	101075801	T	C	101075801	3	2	88	1	0	0	0	0	1	0	0	0	1037	1696	59	4	2230	4	ASCC3	6	101075801	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20906	101075801	70039266	7448	15160											
ASCC3	10973	broad.mit.edu	37	chr6	101215160	101215160	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattggtgttgtaggcagtcTcaaacactattgactggatt	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101215160T>C	ENST00000369162.2	-	9	1801	c.1457A>G	c.(1456-1458)gAg>gGg	p.E486G	ASCC3_ENST00000522650.1_Missense_Mutation_p.E486G	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	486	Helicase ATP-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAGGCAGTCTCAAACACTAT	0.398													False	0	False	6:101215160	0	C	101215160	T	C	101215160	3	2	88	1	0	0	0	0	1	0	0	0	1037	1551	54	4	5287	4	ASCC3	6	101215160	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	139359	101215160	69899907	7449	15161											
GRIK2	2898	broad.mit.edu	37	chr6	102074437	102074437	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctacccagacttctcttcaCtcagccgtgccattttagac	5	15	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102074437C>A	ENST00000369138.1	+	3	956	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	GRIK2_ENST00000413795.1_Missense_Mutation_p.L156I|GRIK2_ENST00000369134.4_Missense_Mutation_p.L107I|GRIK2_ENST00000318991.6_Missense_Mutation_p.L156I|GRIK2_ENST00000421544.1_Missense_Mutation_p.L156I|GRIK2_ENST00000358361.3_Missense_Mutation_p.L156I|GRIK2_ENST00000369137.3_Missense_Mutation_p.L156I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	156					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CTTCTCTTCACTCAGCCGTGC	0.468													False	0	False	6:102074437	0	A	102074437	C	A	102074437	3	1	88	1	0	0	0	0	1	0	0	0	6821	565	20	3	476	3	GRIK2	6	102074437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	859277	102074437	69040630	7450	15162											
GRIK2	2898	broad.mit.edu	37	chr6	102266352	102266352	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgttctttgattgttaccacCattttggtaagtatttgctt	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102266352C>A	ENST00000369138.1	+	9	1801	c.1311C>A	c.(1309-1311)acC>acA	p.T437T	GRIK2_ENST00000413795.1_Silent_p.T437T|GRIK2_ENST00000369134.4_Silent_p.T388T|GRIK2_ENST00000318991.6_Silent_p.T437T|GRIK2_ENST00000421544.1_Silent_p.T437T|GRIK2_ENST00000369137.3_Silent_p.T437T	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	437					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTGTTACCACCATTTTGGTAA	0.383													False	0	False	6:102266352	0	A	102266352	C	A	102266352	2	1	88	1	0	0	0	0	0	0	0	1	6821	581	21	3		3	GRIK2	6	102266352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191915	102266352	68848715	7451	15163											
GRIK2	2898	broad.mit.edu	37	chr6	102376473	102376473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccaagatagaatatggagCagtagaggatggtgcaacca	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102376473C>T	ENST00000369138.1	+	13	2541	c.2051C>T	c.(2050-2052)gCa>gTa	p.A684V	GRIK2_ENST00000413795.1_Missense_Mutation_p.A684V|GRIK2_ENST00000369134.4_Missense_Mutation_p.A635V|GRIK2_ENST00000318991.6_Missense_Mutation_p.A684V|GRIK2_ENST00000421544.1_Missense_Mutation_p.A684V|GRIK2_ENST00000369137.3_Missense_Mutation_p.A608V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	684					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAATATGGAGCAGTAGAGGAT	0.393													False	0	False	6:102376473	0	T	102376473	C	T	102376473	3	4	88	1	0	0	0	0	1	0	0	0	6821	710	25	2	2101	2	GRIK2	6	102376473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110121	102376473	68738594	7452	15164											
HACE1	57531	broad.mit.edu	37	chr6	105198220	105198220	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtttttccttaccaatTcatattcatcaaaaagctgt	4	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198220T>G	ENST00000262903.4	-	20	2615	c.2339A>C	c.(2338-2340)gAa>gCa	p.E780A	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.E565A	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	780	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CCTTACCAATTCATATTCATC	0.343													False	0	True	6:105198220	0	G	105198220	T	G	105198220	3	3	88	1	0	0	0	0	1	0	0	0	6987	1783	62	4	410	4	HACE1	6	105198220	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2821747	105198220	65916847	7453	15165											
HACE1	57531	broad.mit.edu	37	chr6	105198346	105198346	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacaagctggacgtactccGcctgttgaaaaagaagtttt	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198346G>A	ENST00000262903.4	-	20	2489	c.2213C>T	c.(2212-2214)gCg>gTg	p.A738V	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Splice_Site_p.A523V	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	738	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		GACGTACTCCGCCTGTTGAAA	0.338													False	0	False	6:105198346	0	A	105198346	G	A	105198346	5	1	88	1	0	0	0	0	0	0	1	0	6987	1101	38	1	536	1	HACE1	6	105198346	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	105198346	65916721	7454	15166											
BVES	11149	broad.mit.edu	37	chr6	105549001	105549001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaatgtatttggagatGccggttcaaaaacgtcatca	8	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105549001G>A	ENST00000314641.5	-	8	1262	c.1046C>T	c.(1045-1047)gCa>gTa	p.A349V	BVES_ENST00000336775.5_Missense_Mutation_p.A349V|BVES_ENST00000446408.2_Missense_Mutation_p.A349V	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	349					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATTTGGAGATGCCGGTTCAAA	0.453													False	0	False	6:105549001	0	A	105549001	G	A	105549001	3	1	88	1	0	0	0	0	1	0	0	0	1582	1319	46	2	40	2	BVES	6	105549001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	350655	105549001	65566066	7455	15167											
PREP	5550	broad.mit.edu	37	chr6	105726037	105726037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttatggaatccagtcgacGttcaggcaccgcgcgatgaa	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105726037G>A	ENST00000369110.3	-	15	2307	c.2115C>T	c.(2113-2115)aaC>aaT	p.N705N		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	705					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TCCAGTCGACGTTCAGGCACC	0.552													False	0	False	6:105726037	0	A	105726037	G	A	105726037	2	1	88	1	0	0	0	0	0	0	0	1	12550	1136	40	1		1	PREP	6	105726037	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177036	105726037	65389030	7456	15168											
PRDM1	639	broad.mit.edu	37	chr6	106553699	106553699	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcattaaaaacaaaagaaAcatgaccggctacaagaccc	5	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106553699A>G	ENST00000369096.4	+	5	1898	c.1664A>G	c.(1663-1665)aAc>aGc	p.N555S	PRDM1_ENST00000369089.3_Missense_Mutation_p.N421S|PRDM1_ENST00000369091.2_Missense_Mutation_p.N519S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	555					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AACAAAAGAAACATGACCGGC	0.547			"D, N, Mis, F, S"		DLBCL								False	0	True	6:106553699	0	G	106553699	A	G	106553699	3	3	88	1	0	0	0	0	1	0	0	0	12526	43	2	4	1695	4	PRDM1	6	106553699	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	827662	106553699	64561368	7457	15169											
PRDM1	639	broad.mit.edu	37	chr6	106554877	106554877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccaatgcaaggtgtgccCtgccaagttcacccagtttg	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106554877C>T	ENST00000369096.4	+	7	2228	c.1994C>T	c.(1993-1995)cCt>cTt	p.P665L	PRDM1_ENST00000369089.3_Missense_Mutation_p.P531L|PRDM1_ENST00000369091.2_Missense_Mutation_p.P629L	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	665					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAGGTGTGCCCTGCCAAGTTC	0.542			"D, N, Mis, F, S"		DLBCL								False	0	True	6:106554877	0	T	106554877	C	T	106554877	3	4	88	1	0	0	0	0	1	0	0	0	12526	681	24	2	2033	2	PRDM1	6	106554877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1178	106554877	64560190	7458	15170											
AIM1	202	broad.mit.edu	37	chr6	106967596	106967596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccgatacagcacaagacaTccccaccactgtggatacca	6	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106967596T>C	ENST00000369066.3	+	2	1776	c.1289T>C	c.(1288-1290)aTc>aCc	p.I430T		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	430							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GCACAAGACATCCCCACCACT	0.483													False	0	True	6:106967596	0	C	106967596	T	C	106967596	3	2	88	1	0	0	0	0	1	0	0	0	430	1435	50	4	1295	4	AIM1	6	106967596	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	412719	106967596	64147471	7459	15171											
AIM1	202	broad.mit.edu	37	chr6	106968895	106968895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactatgaccacggctttcaGtacttctcagaacggttccc	7	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106968895G>A	ENST00000369066.3	+	2	3075	c.2588G>A	c.(2587-2589)aGt>aAt	p.S863N		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	863							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACGGCTTTCAGTACTTCTCAG	0.448													False	0	False	6:106968895	0	A	106968895	G	A	106968895	3	1	88	1	0	0	0	0	1	0	0	0	430	1029	36	2	2594	2	AIM1	6	106968895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1299	106968895	64146172	7460	15172											
QRSL1	55278	broad.mit.edu	37	chr6	107111039	107111040	+	Frame_Shift_Ins	INS	-	-	AGGATTTTTTGTATTTTTCTTTTAAT													tgcccaggatgatatttttaINScacaagctgtaaatatggca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107111039_107111040insAGGATTTTTTGTATTTTTCTTTTAAT	ENST00000369046.4	+	10	1449_1450	c.1345_1346insAGGATTTTTTGTATTTTTCTTTTAAT	c.(1345-1347)acafs	p.T449fs		NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	449					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		TGATATTTTTACACAAGCTGTA	0.431													False	0	False	6:107111039	0	AGGATTTTTTGTATTTTTCTTTTAAT	107111040	-	AGGATTTTTTGTATTTTTCTTTTAAT	107111039	7	5	88	1	0	1	1	0	0	0	0	0	12960	391	14	0	1383	0	QRSL1	6	107111039	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	142144	107111039	64004028	7461	15173											
BEND3	57673	broad.mit.edu	37	chr6	107390904	107390904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agactggaggagtcgtagcaGtcatcacgcggggggtcgcc	17	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107390904G>T	ENST00000429433.2	-	5	2140	c.1491C>A	c.(1489-1491)gaC>gaA	p.D497E	BEND3_ENST00000369042.1_Missense_Mutation_p.D497E	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	497										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCGTAGCAGTCATCACGCG	0.672													False	0	False	6:107390904	0	T	107390904	G	T	107390904	3	4	88	1	0	0	0	0	1	0	0	0	1403	1020	36	3	999	3	BEND3	6	107390904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	279865	107390904	63724163	7462	15174											
SOBP	55084	broad.mit.edu	37	chr6	107854756	107854756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatgggaagtgaggtgaaaaGcttctgcagcgagaagtgct	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107854756G>T	ENST00000317357.5	+	4	1174	c.515G>T	c.(514-516)aGc>aTc	p.S172I		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	172							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GAGGTGAAAAGCTTCTGCAGC	0.507													False	0	True	6:107854756	0	T	107854756	G	T	107854756	3	4	88	1	0	0	0	0	1	0	0	0	14992	971	34	3	529	3	SOBP	6	107854756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	463852	107854756	63260311	7463	15175											
SOBP	55084	broad.mit.edu	37	chr6	107955419	107955419	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaccggcccatgctatcGccccacatccaccccccgag	7	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107955419G>A	ENST00000317357.5	+	6	2030	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	457	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCATGCTATCGCCCCACATCC	0.751													False	0	True	6:107955419	0	A	107955419	G	A	107955419	2	1	88	1	0	0	0	0	0	0	0	1	14992	1074	38	1		1	SOBP	6	107955419	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100663	107955419	63159648	7464	15176											
SOBP	55084	broad.mit.edu	37	chr6	107955830	107955830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagggctcgtccaagtcCgcggactcgccccccggctg	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107955830C>T	ENST00000317357.5	+	6	2441	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	594							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CGTCCAAGTCCGCGGACTCGC	0.756													False	0	False	6:107955830	0	T	107955830	C	T	107955830	2	4	88	1	0	0	0	0	0	0	0	1	14992	639	23	1		1	SOBP	6	107955830	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	411	107955830	63159237	7465	15177											
SOBP	55084	broad.mit.edu	37	chr6	107956367	107956367	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagctagagtcggtcaaggaGaataactgtgcttccaactg	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107956367G>T	ENST00000317357.5	+	6	2978	c.2319G>T	c.(2317-2319)gaG>gaT	p.E773D	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	773							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CGGTCAAGGAGAATAACTGTG	0.687													False	0	False	6:107956367	0	T	107956367	G	T	107956367	3	4	88	1	0	0	0	0	1	0	0	0	14992	933	33	3	2341	3	SOBP	6	107956367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	537	107956367	63158700	7466	15178											
SOBP	55084	broad.mit.edu	37	chr6	107956512	107956512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatgctctgcggatgctgCccaagaccggctgcgtgatc	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107956512C>T	ENST00000317357.5	+	6	3123	c.2464C>T	c.(2464-2466)Ccc>Tcc	p.P822S	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	822							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCGGATGCTGCCCAAGACCGG	0.647													False	0	True	6:107956512	0	T	107956512	C	T	107956512	3	4	88	1	0	0	0	0	1	0	0	0	14992	739	26	2	2486	2	SOBP	6	107956512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	107956512	63158555	7467	15179											
SEC63	11231	broad.mit.edu	37	chr6	108227665	108227665	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaataccttcttcaagggtCtcaggaattttcattctagc	6	10	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108227665C>T	ENST00000369002.4	-	10	1127	c.948G>A	c.(946-948)gaG>gaA	p.E316E		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	316	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CTTCAAGGGTCTCAGGAATTT	0.388													False	0	False	6:108227665	0	T	108227665	C	T	108227665	2	4	88	1	0	0	0	0	0	0	0	1	14086	912	32	2		2	SEC63	6	108227665	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271153	108227665	62887402	7468	15180											
NR2E1	7101	broad.mit.edu	37	chr6	108496126	108496126	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcaacatgaacaaagaCggtaatcagtgcatcccttt	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108496126C>T	ENST00000368986.4	+	3	966	c.258C>T	c.(256-258)gaC>gaT	p.D86D	NR2E1_ENST00000368983.3_Splice_Site_p.D123D	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	86					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TGAACAAAGACGGTAATCAGT	0.458													False	0	False	6:108496126	0	T	108496126	C	T	108496126	5	4	88	1	0	0	0	0	0	0	1	0	10693	550	19	1	268	1	NR2E1	6	108496126	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	268461	108496126	62618941	7469	15181											
NR2E1	7101	broad.mit.edu	37	chr6	108499328	108499328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgaatgggaccccaatGtatctctatgaagtggccac	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108499328G>A	ENST00000368986.4	+	5	1233	c.525G>A	c.(523-525)atG>atA	p.M175I	NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.M212I	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	175					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GGACCCCAATGTATCTCTATG	0.498													False	0	False	6:108499328	0	A	108499328	G	A	108499328	3	1	88	1	0	0	0	0	1	0	0	0	10693	1377	48	2	543	2	NR2E1	6	108499328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3202	108499328	62615739	7470	15182											
SNX3	8724	broad.mit.edu	37	chr6	108535813	108535813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacgctttcccagggagcGggggaactacgacctaaaat	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108535813G>A	ENST00000230085.8	-	3	610	c.272C>T	c.(271-273)cCg>cTg	p.P91L	SNX3_ENST00000426155.2_Missense_Mutation_p.P59L|SNX3_ENST00000349379.5_Missense_Mutation_p.P69L	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	91	PX.				cell communication|endocytosis|protein transport	early endosome|endosome membrane	phosphatidylinositol-3-phosphate binding|protein phosphatase binding			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		CCCAGGGAGCGGGGGAACTAC	0.423													False	0	True	6:108535813	0	A	108535813	G	A	108535813	3	1	88	1	0	0	0	0	1	0	0	0	14979	1116	39	1	224	1	SNX3	6	108535813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36485	108535813	62579254	7471	15183											
LACE1	246269	broad.mit.edu	37	chr6	108645053	108645053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacggttcagacatccgagaGcatgaccccaactgccactt	8	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108645053G>T	ENST00000368977.4	+	2	350	c.164G>T	c.(163-165)aGc>aTc	p.S55I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	55							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		ACATCCGAGAGCATGACCCCA	0.393													False	0	False	6:108645053	0	T	108645053	G	T	108645053	3	4	88	1	0	0	0	0	1	0	0	0	8646	971	34	3	170	3	LACE1	6	108645053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109240	108645053	62470014	7472	15184											
LACE1	246269	broad.mit.edu	37	chr6	108687502	108687502	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatctgttcaaaaacggggtCgtcgttgtggcaacatccaa	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108687502C>T	ENST00000368977.4	+	6	900	c.714C>T	c.(712-714)gtC>gtT	p.V238V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	238							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AAAACGGGGTCGTCGTTGTGG	0.373													False	0	False	6:108687502	0	T	108687502	C	T	108687502	2	4	88	1	0	0	0	0	0	0	0	1	8646	871	31	1		1	LACE1	6	108687502	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42449	108687502	62427565	7473	15185											
LACE1	246269	broad.mit.edu	37	chr6	108840900	108840900	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattttcttctatttcagGtgcgtataatttgctctgcg	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108840900G>A	ENST00000368977.4	+	12	1390	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	402							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TCTATTTCAGGTGCGTATAAT	0.348													False	0	False	6:108840900	0	A	108840900	G	A	108840900	5	1	88	1	0	0	0	0	0	0	1	0	8646	1275	44	2	1250	2	LACE1	6	108840900	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153398	108840900	62274167	7474	15186											
FOXO3	2309	broad.mit.edu	37	chr6	108984662	108984662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttttctccctgcagaactCcatccggcacaacctgtcac	5	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108984662C>T	ENST00000406360.1	+	2	969	c.626C>T	c.(625-627)tCc>tTc	p.S209F	FOXO3_ENST00000540898.1_5'UTR|FOXO3_ENST00000343882.6_Missense_Mutation_p.S209F	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	209					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CTGCAGAACTCCATCCGGCAC	0.468													False	0	False	6:108984662	0	T	108984662	C	T	108984662	3	4	88	1	0	0	0	0	1	0	0	0	6066	855	30	2	632	2	FOXO3	6	108984662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143762	108984662	62130405	7475	15187											
FOXO3	2309	broad.mit.edu	37	chr6	108984928	108984928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggcagccccacgtcaCgcagcagtgatgagctggat	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108984928C>T	ENST00000406360.1	+	2	1235	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	FOXO3_ENST00000540898.1_Missense_Mutation_p.R78C|FOXO3_ENST00000343882.6_Missense_Mutation_p.R298C	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	298				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCCCACGTCACGCAGCAGTGA	0.632													False	0	False	6:108984928	0	T	108984928	C	T	108984928	3	4	88	1	0	0	0	0	1	0	0	0	6066	536	19	1	898	1	FOXO3	6	108984928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266	108984928	62130139	7476	15188											
FOXO3	2309	broad.mit.edu	37	chr6	108985303	108985303	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataccaccaagggctcgggcCtgggctccccaaccagctcc	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108985303C>A	ENST00000406360.1	+	2	1610	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	FOXO3_ENST00000540898.1_Missense_Mutation_p.L203M|FOXO3_ENST00000343882.6_Missense_Mutation_p.L423M	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	423					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGGCTCGGGCCTGGGCTCCCC	0.602													False	0	False	6:108985303	0	A	108985303	C	A	108985303	3	1	88	1	0	0	0	0	1	0	0	0	6066	680	24	3	1273	3	FOXO3	6	108985303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375	108985303	62129764	7477	15189											
ARMC2	84071	broad.mit.edu	37	chr6	109197507	109197508	+	In_Frame_Ins	INS	-	-	ATATTT													tgaaataaaggagcaagaaaINStgttcaaaggaacaacatct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109197507_109197508insATATTT	ENST00000392644.4	+	5	793_794	c.625_626insATATTT	c.(625-627)atg>aATATTTtg	p.209_209M>NIL	ARMC2_ENST00000368972.3_In_Frame_Ins_p.44_44M>NIL	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	209							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GGAGCAAGAAATGTTCAAAGGA	0.351													False	0	True	6:109197507	0	ATATTT	109197508	-	ATATTT	109197507	7	5	88	1	0	1	1	0	0	0	0	0	955	101	4	0	639	0	ARMC2	6	109197507	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	212204	109197507	61917560	7478	15190											
ARMC2	84071	broad.mit.edu	37	chr6	109220981	109220981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggattgtaccgattttgcGtgaattagaaaagggtaaaa	11	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109220981G>A	ENST00000392644.4	+	7	1001	c.833G>A	c.(832-834)cGt>cAt	p.R278H	ARMC2_ENST00000368972.3_Missense_Mutation_p.R113H	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	278							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CCGATTTTGCGTGAATTAGAA	0.353													False	0	False	6:109220981	0	A	109220981	G	A	109220981	3	1	88	1	0	0	0	0	1	0	0	0	955	1145	40	1	855	1	ARMC2	6	109220981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23474	109220981	61894086	7479	15191											
ARMC2	84071	broad.mit.edu	37	chr6	109225603	109225603	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttaaacttgcaaaaataattCtagcagtaagtttttctttc	4	6	2	0	rs145604834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109225603C>A	ENST00000392644.4	+	8	1186	c.1018C>A	c.(1018-1020)Cta>Ata	p.L340I	ARMC2_ENST00000368972.3_Missense_Mutation_p.L175I	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	340							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AAAAATAATTCTAGCAGTAAG	0.313													False	0	False	6:109225603	0	A	109225603	C	A	109225603	3	1	88	1	0	0	0	0	1	0	0	0	955	912	32	3	1044	3	ARMC2	6	109225603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4622	109225603	61889464	7480	15192											
ARMC2	84071	broad.mit.edu	37	chr6	109274296	109274296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggcaaaaaataaccaggctCgtgaacaattttccaaagag	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109274296C>T	ENST00000392644.4	+	13	1825	c.1657C>T	c.(1657-1659)Cgt>Tgt	p.R553C	ARMC2_ENST00000368972.3_Missense_Mutation_p.R388C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	553							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TAACCAGGCTCGTGAACAATT	0.463													False	0	False	6:109274296	0	T	109274296	C	T	109274296	3	4	88	1	0	0	0	0	1	0	0	0	955	884	31	1	1703	1	ARMC2	6	109274296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48693	109274296	61840771	7481	15193											
ARMC2	84071	broad.mit.edu	37	chr6	109283323	109283323	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctgcgatttcattgtgcaGaacaatggtgagttaataac	10	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109283323G>A	ENST00000392644.4	+	15	2313	c.2145G>A	c.(2143-2145)caG>caA	p.Q715Q	ARMC2_ENST00000368972.3_Silent_p.Q550Q|ARMC2_ENST00000481850.1_3'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	715							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCATTGTGCAGAACAATGGTG	0.398													False	0	False	6:109283323	0	A	109283323	G	A	109283323	2	1	88	1	0	0	0	0	0	0	0	1	955	933	33	2		2	ARMC2	6	109283323	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9027	109283323	61831744	7482	15194											
MICAL1	64780	broad.mit.edu	37	chr6	109765460	109765460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctggaagcggatgagGgcatctctctggttgaccaa	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109765460G>A	ENST00000368952.4	-	25	3485	c.3195C>T	c.(3193-3195)gcC>gcT	p.A1065A	MICAL1_ENST00000358577.3_Silent_p.A960A|MICAL1_ENST00000358807.3_Silent_p.A1046A			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1046					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGCGGATGAGGGCATCTCTCT	0.587													False	0	True	6:109765460	0	A	109765460	G	A	109765460	2	1	88	1	0	0	0	0	0	0	0	1	9636	1219	43	2		2	MICAL1	6	109765460	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	482137	109765460	61349607	7483	15195											
MICAL1	64780	broad.mit.edu	37	chr6	109768325	109768325	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccacagtgtggcctcacaGgtatggcagcggaagcagct	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768325G>T	ENST00000368952.4	-	17	2525	c.2235C>A	c.(2233-2235)acC>acA	p.T745T	MICAL1_ENST00000358577.3_Silent_p.T640T|MICAL1_ENST00000358807.3_Silent_p.T726T			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	726	LIM zinc-binding.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGGCCTCACAGGTATGGCAGC	0.617													False	0	False	6:109768325	0	T	109768325	G	T	109768325	2	4	88	1	0	0	0	0	0	0	0	1	9636	987	35	3		3	MICAL1	6	109768325	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2865	109768325	61346742	7484	15196											
MICAL1	64780	broad.mit.edu	37	chr6	109768373	109768373	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaaatggccgttgacacaGaggcgttccaggacatagag	13	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768373G>T	ENST00000368952.4	-	17	2477	c.2187C>A	c.(2185-2187)ctC>ctA	p.L729L	MICAL1_ENST00000358577.3_Silent_p.L624L|MICAL1_ENST00000358807.3_Silent_p.L710L			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	710	LIM zinc-binding.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CGTTGACACAGAGGCGTTCCA	0.627													False	0	False	6:109768373	0	T	109768373	G	T	109768373	2	4	88	1	0	0	0	0	0	0	0	1	9636	929	33	3		3	MICAL1	6	109768373	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	109768373	61346694	7485	15197											
MICAL1	64780	broad.mit.edu	37	chr6	109768629	109768629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcacctcagtacttggGgtctcggcctccatctaagg	13	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768629G>A	ENST00000368952.4	-	16	2348	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	MICAL1_ENST00000358577.3_Silent_p.T581T|MICAL1_ENST00000358807.3_Silent_p.T667T			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	667					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CAGTACTTGGGGTCTCGGCCT	0.617													False	0	True	6:109768629	0	A	109768629	G	A	109768629	2	1	88	1	0	0	0	0	0	0	0	1	9636	1219	43	2		2	MICAL1	6	109768629	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256	109768629	61346438	7486	15198											
MICAL1	64780	broad.mit.edu	37	chr6	109775336	109775336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcagcacgtcctggcacaGctgggcctgcaggaagctct	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109775336G>T	ENST00000368952.4	-	2	411	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	MICAL1_ENST00000358577.3_Missense_Mutation_p.L22M|MICAL1_ENST00000358807.3_Missense_Mutation_p.L22M			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	22					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCCTGGCACAGCTGGGCCTGC	0.652													False	0	False	6:109775336	0	T	109775336	G	T	109775336	3	4	88	1	0	0	0	0	1	0	0	0	9636	962	34	3	3235	3	MICAL1	6	109775336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6707	109775336	61339731	7487	15199											
FIG4	9896	broad.mit.edu	37	chr6	110107619	110107619	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagttgagcagctttgatgAtaccttttgcttggctatga	11	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110107619A>C	ENST00000230124.3	+	18	2187	c.2063A>C	c.(2062-2064)gAt>gCt	p.D688A	FIG4_ENST00000441478.2_Missense_Mutation_p.D411A	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	688					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AGCTTTGATGATACCTTTTGC	0.348													False	0	False	6:110107619	0	C	110107619	A	C	110107619	3	2	88	1	0	0	0	0	1	0	0	0	5928	333	12	4	2133	4	FIG4	6	110107619	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	332283	110107619	61007448	7488	15200											
GPR6	0	broad.mit.edu	37	chr6	110300884	110300884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtgcacctcctgcttgCcgccacttggaccgtgtccc	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110300884C>A	ENST00000414000.2	+	3	853	c.614C>A	c.(613-615)gCc>gAc	p.A205D	GPR6_ENST00000275169.3_Missense_Mutation_p.A190D			P46095	GPR6_HUMAN	G protein-coupled receptor 6	190						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CTCCTGCTTGCCGCCACTTGG	0.687													False	0	False	6:110300884	0	A	110300884	C	A	110300884	3	1	88	1	0	0	0	0	1	0	0	0	6747	739	26	3	571	3	GPR6	6	110300884	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193265	110300884	60814183	7489	15201											
WASF1	8936	broad.mit.edu	37	chr6	110423106	110423106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctcacatactggggcagCtctagctactggtggagagg	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110423106C>T	ENST00000392589.1	-	10	2043	c.1207G>A	c.(1207-1209)Gct>Act	p.A403T	WASF1_ENST00000392586.1_Missense_Mutation_p.A403T|WASF1_ENST00000392588.1_Missense_Mutation_p.A403T|WASF1_ENST00000392587.2_Missense_Mutation_p.A403T|WASF1_ENST00000359451.2_Missense_Mutation_p.A403T	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	403					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		ACTGGGGCAGCTCTAGCTACT	0.592													False	0	False	6:110423106	0	T	110423106	C	T	110423106	3	4	88	1	0	0	0	0	1	0	0	0	17336	797	28	2	480	2	WASF1	6	110423106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122222	110423106	60691961	7490	15202											
DDO	8528	broad.mit.edu	37	chr6	110729641	110729641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctgcgtgtgaatgggTgtatctgtaatcatggagaa	13	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110729641T>C	ENST00000368924.3	-	3	276	c.261A>G	c.(259-261)acA>acG	p.T87T	DDO_ENST00000368923.3_Silent_p.T87T	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	59					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TGTGAATGGGTGTATCTGTAA	0.393													False	0	True	6:110729641	0	C	110729641	T	C	110729641	2	2	88	1	0	0	0	0	0	0	0	1	4359	1683	59	4		4	DDO	6	110729641	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	306535	110729641	60385426	7491	15203											
DDO	8528	broad.mit.edu	37	chr6	110734632	110734632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtggagagccccaccacacCtgccccgacaactgcaatcc	8	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110734632C>A	ENST00000368924.3	-	2	133	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	DDO_ENST00000368923.3_Missense_Mutation_p.G40C	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	12					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CCCACCACACCTGCCCCGACA	0.522													False	0	False	6:110734632	0	A	110734632	C	A	110734632	3	1	88	1	0	0	0	0	1	0	0	0	4359	681	24	3	1007	3	DDO	6	110734632	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4991	110734632	60380435	7492	15204											
AMD1	262	broad.mit.edu	37	chr6	111213405	111213405	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgtatgaattctgactgtTggtatgtttaatgcaatttt	9	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111213405T>C	ENST00000368885.3	+	5	805	c.469T>C	c.(469-471)Tgg>Cgg	p.W157R	AMD1_ENST00000368877.5_Splice_Site_p.W128R|AMD1_ENST00000368876.1_Splice_Site_p.W88R|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Splice_Site_p.W9R	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	157					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TTCTGACTGTTGGTATGTTTA	0.313													False	0	False	6:111213405	0	C	111213405	T	C	111213405	5	2	88	1	0	0	0	0	0	0	1	0	566	1826	63	4	487	4	AMD1	6	111213405	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	478773	111213405	59901662	7493	15205											
RPF2	84154	broad.mit.edu	37	chr6	111310254	111310254	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactgaaaaaaccatacggTgtactatataaaaagtaagt	7	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111310254T>C	ENST00000441448.2	+	3	272	c.180T>C	c.(178-180)ggT>ggC	p.G60G		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	60	Brix.		G -> S (in dbSNP:rs6909298).			nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AACCATACGGTGTACTATATA	0.249													False	0	False	6:111310254	0	C	111310254	T	C	111310254	2	2	88	1	0	0	0	0	0	0	0	1	13626	1683	59	4		4	RPF2	6	111310254	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96849	111310254	59804813	7494	15206											
SLC16A10	117247	broad.mit.edu	37	chr6	111493992	111493992	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggttgtcggaaaacagctgtCgtgggtgctgctgttggatt	16	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111493992C>A	ENST00000368851.5	+	2	613	c.438C>A	c.(436-438)gtC>gtA	p.V146V	SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	146					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		AAACAGCTGTCGTGGGTGCTG	0.428													False	0	False	6:111493992	0	A	111493992	C	A	111493992	2	1	88	1	0	0	0	0	0	0	0	1	14484	871	31	3		3	SLC16A10	6	111493992	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	183738	111493992	59621075	7495	15207											
KIAA1919	91749	broad.mit.edu	37	chr6	111583508	111583508	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtttcaagatttggcaacaAacgtgaaccgaaatatcagt	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111583508A>C	ENST00000368847.4	+	2	429	c.76A>C	c.(76-78)Aac>Cac	p.N26H		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	26					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTGGCAACAAACGTGAACCG	0.363													False	0	True	6:111583508	0	C	111583508	A	C	111583508	3	2	88	1	0	0	0	0	1	0	0	0	8312	14	1	4	82	4	KIAA1919	6	111583508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	89516	111583508	59531559	7496	15208											
REV3L	5980	broad.mit.edu	37	chr6	111621261	111621261	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagatatggtgccttggaCaattctctatttactcggga	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111621261C>T	ENST00000435970.1	-	34	9933	c.9117G>A	c.(9115-9117)ttG>ttA	p.L3039L	REV3L_ENST00000368805.1_Silent_p.L3117L|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000358835.3_Silent_p.L3117L|REV3L_ENST00000368802.3_Silent_p.L3117L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3117					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTGCCTTGGACAATTCTCTAT	0.393								DNA polymerases (catalytic subunits)					False	0	False	6:111621261	0	T	111621261	C	T	111621261	2	4	88	1	0	0	0	0	0	0	0	1	13319	477	17	2		2	REV3L	6	111621261	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37753	111621261	59493806	7497	15209											
REV3L	5980	broad.mit.edu	37	chr6	111678315	111678315	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatctaataagtaatggagtCtgatatctgatatctaaaaa	7	4	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111678315C>T	ENST00000435970.1	-	20	7668	c.6852G>A	c.(6850-6852)caG>caA	p.Q2284Q	REV3L_ENST00000368805.1_Silent_p.Q2362Q|REV3L_ENST00000358835.3_Silent_p.Q2362Q|REV3L_ENST00000368802.3_Silent_p.Q2362Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2362					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTAATGGAGTCTGATATCTGA	0.269								DNA polymerases (catalytic subunits)					False	0	False	6:111678315	0	T	111678315	C	T	111678315	2	4	88	1	0	0	0	0	0	0	0	1	13319	912	32	2		2	REV3L	6	111678315	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57054	111678315	59436752	7498	15210											
REV3L	5980	broad.mit.edu	37	chr6	111693934	111693934	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taagtggtttcagaatgttaGcagttcgaggggtgaagctg	15	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111693934G>T	ENST00000435970.1	-	15	6206	c.5390C>A	c.(5389-5391)gCt>gAt	p.A1797D	REV3L_ENST00000368805.1_Missense_Mutation_p.A1875D|REV3L_ENST00000358835.3_Missense_Mutation_p.A1875D|REV3L_ENST00000368802.3_Missense_Mutation_p.A1875D			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1875					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CAGAATGTTAGCAGTTCGAGG	0.418								DNA polymerases (catalytic subunits)					False	0	False	6:111693934	0	T	111693934	G	T	111693934	3	4	88	1	0	0	0	0	1	0	0	0	13319	971	34	3	3848	3	REV3L	6	111693934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15619	111693934	59421133	7499	15211											
REV3L	5980	broad.mit.edu	37	chr6	111695078	111695078	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattgcttctgataacgaccTcggttttactctttcaggtt	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111695078T>A	ENST00000435970.1	-	15	5062	c.4246A>T	c.(4246-4248)Agg>Tgg	p.R1416W	REV3L_ENST00000368805.1_Missense_Mutation_p.R1494W|REV3L_ENST00000358835.3_Missense_Mutation_p.R1494W|REV3L_ENST00000368802.3_Missense_Mutation_p.R1494W			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1494					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GATAACGACCTCGGTTTTACT	0.378								DNA polymerases (catalytic subunits)					False	0	False	6:111695078	0	A	111695078	T	A	111695078	3	1	88	1	0	0	0	0	1	0	0	0	13319	1550	54	5	4992	5	REV3L	6	111695078	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1144	111695078	59419989	7500	15212											
REV3L	5980	broad.mit.edu	37	chr6	111709256	111709256	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtctcttctgaaatttttTttcactttctgttgctggca	6	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111709256T>G	ENST00000435970.1	-	10	1477	c.661A>C	c.(661-663)Aaa>Caa	p.K221Q	REV3L_ENST00000368805.1_Missense_Mutation_p.K299Q|REV3L_ENST00000358835.3_Missense_Mutation_p.K299Q|REV3L_ENST00000368802.3_Missense_Mutation_p.K299Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	299					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGAAATTTTTTTTCACTTTCT	0.289								DNA polymerases (catalytic subunits)					False	0	True	6:111709256	0	G	111709256	T	G	111709256	3	3	88	1	0	0	0	0	1	0	0	0	13319	1850	64	4	8597	4	REV3L	6	111709256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14178	111709256	59405811	7501	15213											
WISP3	8838	broad.mit.edu	37	chr6	112382319	112382319	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaatgccctcagcagaaGccccgttgccctcctggagt	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112382319G>T	ENST00000361714.1	+	2	273	c.228G>T	c.(226-228)aaG>aaT	p.K76N	WISP3_ENST00000604763.1_Missense_Mutation_p.K58N|WISP3_ENST00000368666.2_Missense_Mutation_p.K58N|WISP3_ENST00000230529.5_Missense_Mutation_p.K58N|WISP3_ENST00000368663.3_Missense_Mutation_p.K36N			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	58	IGFBP N-terminal.				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CTCAGCAGAAGCCCCGTTGCC	0.527													False	0	True	6:112382319	0	T	112382319	G	T	112382319	3	4	88	1	0	0	0	0	1	0	0	0	17458	962	34	3	234	3	WISP3	6	112382319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	673063	112382319	58732748	7502	15214											
TUBE1	51175	broad.mit.edu	37	chr6	112397143	112397143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctggatagaattacctcGttaggttgaggagcaaattt	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112397143G>A	ENST00000368662.5	-	8	887	c.809C>T	c.(808-810)aCg>aTg	p.T270M	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	270					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GAATTACCTCGTTAGGTTGAG	0.333													False	0	False	6:112397143	0	A	112397143	G	A	112397143	3	1	88	1	0	0	0	0	1	0	0	0	16847	1145	40	1	638	1	TUBE1	6	112397143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14824	112397143	58717924	7503	15215											
LAMA4	3910	broad.mit.edu	37	chr6	112440429	112440429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccttgattttccaggtaGcttcagtaggaggaagactt	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112440429G>A	ENST00000230538.7	-	34	5148	c.4751C>T	c.(4750-4752)gCt>gTt	p.A1584V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A1577V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1577V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1577V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1584	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTCCAGGTAGCTTCAGTAGG	0.473													False	0	False	6:112440429	0	A	112440429	G	A	112440429	3	1	88	1	0	0	0	0	1	0	0	0	8659	971	34	2	744	2	LAMA4	6	112440429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43286	112440429	58674638	7504	15216											
LAMA4	3910	broad.mit.edu	37	chr6	112454579	112454579	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctgggcatccataaccaActcccagggtttctgtctgc	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112454579A>G	ENST00000230538.7	-	27	4065	c.3668T>C	c.(3667-3669)gTt>gCt	p.V1223A	LAMA4_ENST00000389463.4_Missense_Mutation_p.V1216A|LAMA4_ENST00000522006.1_Missense_Mutation_p.V1216A|LAMA4_ENST00000424408.2_Missense_Mutation_p.V1216A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1223	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCATAACCAACTCCCAGGGT	0.423													False	0	False	6:112454579	0	G	112454579	A	G	112454579	3	3	88	1	0	0	0	0	1	0	0	0	8659	43	2	4	1855	4	LAMA4	6	112454579	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14150	112454579	58660488	7505	15217											
LAMA4	3910	broad.mit.edu	37	chr6	112476778	112476778	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatactcacatcataaattcGgtcagtggtgttcaaagcaa	7	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112476778G>A	ENST00000230538.7	-	15	2345	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	LAMA4_ENST00000389463.4_Nonsense_Mutation_p.R643*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R643*|RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000588689.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R643*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	650	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCATAAATTCGGTCAGTGGTG	0.373													False	0	False	6:112476778	0	A	112476778	G	A	112476778	4	1	88	1	0	0	0	0	0	1	0	0	8659	1124	39	1	3623	1	LAMA4	6	112476778	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22199	112476778	58638289	7506	15218											
LAMA4	3910	broad.mit.edu	37	chr6	112479990	112479990	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatggtcaatagcttcttgGactaaatcatggctgaggtt	11	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112479990G>A	ENST00000230538.7	-	14	2158	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	LAMA4_ENST00000389463.4_Silent_p.V580V|LAMA4_ENST00000522006.1_Silent_p.V580V|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Silent_p.V580V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	587	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TAGCTTCTTGGACTAAATCAT	0.378													False	0	False	6:112479990	0	A	112479990	G	A	112479990	2	1	88	1	0	0	0	0	0	0	0	1	8659	1161	41	2		2	LAMA4	6	112479990	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3212	112479990	58635077	7507	15219											
LAMA4	3910	broad.mit.edu	37	chr6	112480017	112480017	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggctgaggttacttagGttagatagttttacttgtag	11	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112480017G>A	ENST00000230538.7	-	14	2131	c.1734C>T	c.(1732-1734)aaC>aaT	p.N578N	LAMA4_ENST00000389463.4_Silent_p.N571N|LAMA4_ENST00000522006.1_Silent_p.N571N|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Silent_p.N571N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	578	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTTACTTAGGTTAGATAGTT	0.338													False	0	False	6:112480017	0	A	112480017	G	A	112480017	2	1	88	1	0	0	0	0	0	0	0	1	8659	1252	44	2		2	LAMA4	6	112480017	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	112480017	58635050	7508	15220											
RFPL4B	442247	broad.mit.edu	37	chr6	112671386	112671386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggagaggtgaagtcatggtCcctgggcgtctgcaaggagc	18	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112671386C>T	ENST00000441065.2	+	3	788	c.476C>T	c.(475-477)tCc>tTc	p.S159F		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	159	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAGTCATGGTCCCTGGGCGTC	0.547													False	0	True	6:112671386	0	T	112671386	C	T	112671386	3	4	88	1	0	0	0	0	1	0	0	0	13335	855	30	2	478	2	RFPL4B	6	112671386	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191369	112671386	58443681	7509	15221											
FRK	2444	broad.mit.edu	37	chr6	116381319	116381319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagtccgagcctggtaAtcaaacaaagccacaaagta	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116381319A>G	ENST00000606080.1	-	1	602	c.156T>C	c.(154-156)gaT>gaC	p.D52D		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	52	SH3.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GAGCCTGGTAATCAAACAAAG	0.532													False	0	False	6:116381319	0	G	116381319	A	G	116381319	2	3	88	1	0	0	0	0	0	0	0	1	6090	98	4	4		4	FRK	6	116381319	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3709933	116381319	54733748	7510	15222											
NT5DC1	221294	broad.mit.edu	37	chr6	116439102	116439102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaattataaaatgtcagctTttaagggtaagtattgtgaa	8	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116439102T>C	ENST00000319550.4	+	6	605	c.523T>C	c.(523-525)Ttt>Ctt	p.F175L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	175							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AATGTCAGCTTTTAAGGGTAA	0.328													False	0	True	6:116439102	0	C	116439102	T	C	116439102	3	2	88	1	0	0	0	0	1	0	0	0	10758	1841	64	4	545	4	NT5DC1	6	116439102	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57783	116439102	54675965	7511	15223											
COL10A1	1300	broad.mit.edu	37	chr6	116441246	116441246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgtactcacattggaGccactaggaatcctgagaaa	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116441246G>T	ENST00000327673.4	-	2	2440	c.2033C>A	c.(2032-2034)gCt>gAt	p.A678D	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.A678D			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	678	C1q.|Nonhelical region (NC1).				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TCACATTGGAGCCACTAGGAA	0.458													False	0	False	6:116441246	0	T	116441246	G	T	116441246	3	4	88	1	0	0	0	0	1	0	0	0	3689	971	34	3	13	3	COL10A1	6	116441246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2144	116441246	54673821	7512	15224											
COL10A1	1300	broad.mit.edu	37	chr6	116442730	116442730	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccctttctgtccattcatAccagggactcctggtgcacc	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116442730A>G	ENST00000327673.4	-	2	956	c.549T>C	c.(547-549)ggT>ggC	p.G183G	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Silent_p.G183G			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	183	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GTCCATTCATACCAGGGACTC	0.592													False	0	False	6:116442730	0	G	116442730	A	G	116442730	2	3	88	1	0	0	0	0	0	0	0	1	3689	378	14	4		4	COL10A1	6	116442730	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1484	116442730	54672337	7513	15225											
DSE	29940	broad.mit.edu	37	chr6	116579730	116579730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggcataggagttggaggaGcccttggcagcattgatgag	16	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116579730G>T	ENST00000540275.1	+	2	245	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S				Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	0					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGTTGGAGGAGCCCTTGGCAG	0.547													False	0	True	6:116579730	0	T	116579730	G	T	116579730	3	4	88	1	0	0	0	0	1	0	0	0	4804	986	34	3		3	DSE	6	116579730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137000	116579730	54535337	7514	15226											
TSPYL1	7259	broad.mit.edu	37	chr6	116600781	116600781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacggcccgcggcatcctgGggtacgcccccctcctctga	11	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116600781G>A	ENST00000368608.3	-	1	285	c.213C>T	c.(211-213)ccC>ccT	p.P71P	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	71					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CGGCATCCTGGGGTACGCCCC	0.701													False	0	True	6:116600781	0	A	116600781	G	A	116600781	2	1	88	1	0	0	0	0	0	0	0	1	16742	1219	43	2		2	TSPYL1	6	116600781	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21051	116600781	54514286	7515	15227											
DSE	29940	broad.mit.edu	37	chr6	116720703	116720703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaaggactacagtgcccGctggaatgaaatttttggaa	10	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116720703G>A	ENST00000331677.3	+	3	734	c.290G>A	c.(289-291)cGc>cAc	p.R97H	DSE_ENST00000537543.1_Missense_Mutation_p.R116H|DSE_ENST00000359564.2_Missense_Mutation_p.R97H|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.R97H			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	97					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TACAGTGCCCGCTGGAATGAA	0.542													False	0	True	6:116720703	0	A	116720703	G	A	116720703	3	1	88	1	0	0	0	0	1	0	0	0	4804	1087	38	1	292	1	DSE	6	116720703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119922	116720703	54394364	7516	15228											
DSE	29940	broad.mit.edu	37	chr6	116747782	116747782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcccgcttgctcactcCctggttggttttgccactgc	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116747782C>T	ENST00000331677.3	+	4	906	c.462C>T	c.(460-462)tcC>tcT	p.S154S	DSE_ENST00000537543.1_Silent_p.S173S|DSE_ENST00000606265.1_3'UTR|DSE_ENST00000359564.2_Silent_p.S154S|DSE_ENST00000452085.3_Silent_p.S154S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	154					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTGCTCACTCCCTGGTTGGTT	0.448													False	0	True	6:116747782	0	T	116747782	C	T	116747782	2	4	88	1	0	0	0	0	0	0	0	1	4804	610	22	2		2	DSE	6	116747782	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27079	116747782	54367285	7517	15229											
DSE	29940	broad.mit.edu	37	chr6	116747899	116747899	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatgtatgaaacttcataCaggagaggatggggatttca	11	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116747899C>T	ENST00000331677.3	+	4	1023	c.579C>T	c.(577-579)taC>taT	p.Y193Y	DSE_ENST00000537543.1_Silent_p.Y212Y|DSE_ENST00000359564.2_Silent_p.Y193Y|DSE_ENST00000452085.3_Silent_p.Y193Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	193					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AAACTTCATACAGGAGAGGAT	0.458													False	0	False	6:116747899	0	T	116747899	C	T	116747899	2	4	88	1	0	0	0	0	0	0	0	1	4804	489	17	2		2	DSE	6	116747899	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117	116747899	54367168	7518	15230											
DSE	29940	broad.mit.edu	37	chr6	116757772	116757772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctttgcacaggtcattgCtgatcgtcacaaaattctgt	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116757772C>A	ENST00000331677.3	+	7	2585	c.2141C>A	c.(2140-2142)gCt>gAt	p.A714D	DSE_ENST00000537543.1_Missense_Mutation_p.A733D|DSE_ENST00000359564.2_Missense_Mutation_p.A714D|DSE_ENST00000452085.3_Missense_Mutation_p.A714D			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	714					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAGGTCATTGCTGATCGTCAC	0.502													False	0	False	6:116757772	0	A	116757772	C	A	116757772	3	1	88	1	0	0	0	0	1	0	0	0	4804	797	28	3	2159	3	DSE	6	116757772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9873	116757772	54357295	7519	15231											
FAM26D	221301	broad.mit.edu	37	chr6	116879157	116879157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagcagcactctcggctccTcatgatgcatcgcataaaga	9	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116879157T>C	ENST00000368596.3	+	2	772	c.728T>C	c.(727-729)cTc>cCc	p.L243P	FAM26D_ENST00000416171.2_Missense_Mutation_p.L99P|FAM26D_ENST00000405399.1_Missense_Mutation_p.L100P|FAM26D_ENST00000368597.2_Missense_Mutation_p.L57P			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	243						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		TCTCGGCTCCTCATGATGCAT	0.493													False	0	False	6:116879157	0	C	116879157	T	C	116879157	3	2	88	1	0	0	0	0	1	0	0	0	5589	1551	54	4	172	4	FAM26D	6	116879157	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	121385	116879157	54235910	7520	15232											
RSPH4A	345895	broad.mit.edu	37	chr6	116938420	116938420	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcatgcttgagatcaccattCagaatgctaaggcttacctg	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116938420C>T	ENST00000229554.5	+	1	771	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.Q212*|RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.Q212*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	212					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATCACCATTCAGAATGCTAA	0.478									Kartagener syndrome				False	0	False	6:116938420	0	T	116938420	C	T	116938420	4	4	88	1	0	0	0	0	0	1	0	0	13785	827	29	2	636	2	RSPH4A	6	116938420	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59263	116938420	54176647	7521	15233											
RSPH4A	345895	broad.mit.edu	37	chr6	116949186	116949186	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtttgcaatgaaccaggaaGaccatgggtgaagttaccac	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116949186G>A	ENST00000229554.5	+	3	1453	c.1316G>A	c.(1315-1317)aGa>aAa	p.R439K	RSPH4A_ENST00000368581.4_Missense_Mutation_p.R439K|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	439					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAACCAGGAAGACCATGGGTG	0.398									Kartagener syndrome				False	0	False	6:116949186	0	A	116949186	G	A	116949186	3	1	88	1	0	0	0	0	1	0	0	0	13785	942	33	2	1326	2	RSPH4A	6	116949186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10766	116949186	54165881	7522	15234											
ZUFSP	221302	broad.mit.edu	37	chr6	116968670	116968670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agatgtacacactacctttgGactcccttctccctctgaag	6	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116968670G>T	ENST00000368576.3	-	8	1663	c.1420C>A	c.(1420-1422)Cca>Aca	p.P474T		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	474						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ACTACCTTTGGACTCCCTTCT	0.338													False	0	False	6:116968670	0	T	116968670	G	T	116968670	3	4	88	1	0	0	0	0	1	0	0	0	18328	1174	41	3	328	3	ZUFSP	6	116968670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19484	116968670	54146397	7523	15235											
ZUFSP	221302	broad.mit.edu	37	chr6	116988313	116988313	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggtgagctttcatgtctgGttctgaggttactgtttcac	11	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116988313G>T	ENST00000368576.3	-	2	286	c.43C>A	c.(43-45)Cca>Aca	p.P15T	ZUFSP_ENST00000368573.1_Missense_Mutation_p.P15T|ZUFSP_ENST00000471919.1_Intron	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	15						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTCATGTCTGGTTCTGAGGTT	0.328													False	0	False	6:116988313	0	T	116988313	G	T	116988313	3	4	88	1	0	0	0	0	1	0	0	0	18328	1261	44	3	1729	3	ZUFSP	6	116988313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19643	116988313	54126754	7524	15236											
KPNA5	3841	broad.mit.edu	37	chr6	117037383	117037383	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttctttttcttggcaggTtattaacaaattcaaacaga	5	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117037383T>C	ENST00000368564.1	+	8	806	c.658T>C	c.(658-660)Tta>Cta	p.L220L	KPNA5_ENST00000356348.1_Splice_Site_p.L220L			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	217	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TCTTGGCAGGTTATTAACAAA	0.318													False	0	False	6:117037383	0	C	117037383	T	C	117037383	5	2	88	1	0	0	0	0	0	0	1	0	8483	1739	60	4	688	4	KPNA5	6	117037383	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49070	117037383	54077684	7525	15237											
GPRC6A	0	broad.mit.edu	37	chr6	117121752	117121752	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctacaacaaggttaccttaaGattcctgaactcattttttg	5	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117121752G>A	ENST00000310357.3	-	4	1564	c.1543C>T	c.(1543-1545)Ctt>Ttt	p.L515F	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L340F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	515					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTTACCTTAAGATTCCTGAAC	0.428													False	0	False	6:117121752	0	A	117121752	G	A	117121752	3	1	88	1	0	0	0	0	1	0	0	0	6775	942	33	2	1249	2	GPRC6A	6	117121752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84369	117121752	53993315	7526	15238											
RFX6	222546	broad.mit.edu	37	chr6	117199106	117199106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaagcagacacagctcaCgctgcagtggtgagactcgc	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117199106C>T	ENST00000332958.2	+	2	387	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	124					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACACAGCTCACGCTGCAGTGG	0.468													False	0	False	6:117199106	0	T	117199106	C	T	117199106	3	4	88	1	0	0	0	0	1	0	0	0	13346	536	19	1	377	1	RFX6	6	117199106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77354	117199106	53915961	7527	15239											
RFX6	222546	broad.mit.edu	37	chr6	117203536	117203536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctttctttttagacaattCgccagaagtttcccctccta	4	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117203536C>T	ENST00000332958.2	+	4	527	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	171					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTAGACAATTCGCCAGAAGTT	0.403													False	0	False	6:117203536	0	T	117203536	C	T	117203536	3	4	88	1	0	0	0	0	1	0	0	0	13346	884	31	1	525	1	RFX6	6	117203536	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4430	117203536	53911531	7528	15240											
RFX6	222546	broad.mit.edu	37	chr6	117203554	117203554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgccagaagtttcccctcCtaacaacaaggcggcttgga	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117203554C>A	ENST00000332958.2	+	4	545	c.529C>A	c.(529-531)Cta>Ata	p.L177I		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	177					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTTTCCCCTCCTAACAACAAG	0.403													False	0	False	6:117203554	0	A	117203554	C	A	117203554	3	1	88	1	0	0	0	0	1	0	0	0	13346	680	24	3	543	3	RFX6	6	117203554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	117203554	53911513	7529	15241											
RFX6	222546	broad.mit.edu	37	chr6	117241504	117241504	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctctctttgaccagcatgTcgttaattctatggtgtctg	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117241504T>C	ENST00000332958.2	+	12	1230	c.1214T>C	c.(1213-1215)gTc>gCc	p.V405A		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	405					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GACCAGCATGTCGTTAATTCT	0.393													False	0	False	6:117241504	0	C	117241504	T	C	117241504	3	2	88	1	0	0	0	0	1	0	0	0	13346	1667	58	4	1260	4	RFX6	6	117241504	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37950	117241504	53873563	7530	15242											
RFX6	222546	broad.mit.edu	37	chr6	117248279	117248279	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagtgtcattaaccaaGgaccaatggcagggaggccc	14	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117248279G>T	ENST00000332958.2	+	17	1991	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	659					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CATTAACCAAGGACCAATGGC	0.527													False	0	False	6:117248279	0	T	117248279	G	T	117248279	4	4	88	1	0	0	0	0	0	1	0	0	13346	1001	35	3	2041	3	RFX6	6	117248279	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6775	117248279	53866788	7531	15243											
VGLL2	245806	broad.mit.edu	37	chr6	117586967	117586967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccaagtctatggtcctcCgcagccctacttcgcagccg	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117586967C>T	ENST00000326274.5	+	1	231	c.41C>T	c.(40-42)cCg>cTg	p.P14L	VGLL2_ENST00000352536.3_Missense_Mutation_p.P14L	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	14					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TATGGTCCTCCGCAGCCCTAC	0.582													False	0	False	6:117586967	0	T	117586967	C	T	117586967	3	4	88	1	0	0	0	0	1	0	0	0	17243	652	23	1	43	1	VGLL2	6	117586967	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338688	117586967	53528100	7532	15244											
ROS1	6098	broad.mit.edu	37	chr6	117609778	117609778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtctgcatgtggttcCttctcttctttcctcagacc	6	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117609778C>A	ENST00000368508.3	-	43	7119	c.6921G>T	c.(6919-6921)aaG>aaT	p.K2307N	ROS1_ENST00000368507.3_Missense_Mutation_p.K2301N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2307					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CATGTGGTTCCTTCTCTTCTT	0.478			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								False	0	True	6:117609778	0	A	117609778	C	A	117609778	3	1	88	1	0	0	0	0	1	0	0	0	13610	680	24	3	126	3	ROS1	6	117609778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22811	117609778	53505289	7533	15245											
ROS1	6098	broad.mit.edu	37	chr6	117704623	117704623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattcaccaatagcttcaCgtgggtaacaatgtctgtgt	9	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117704623C>T	ENST00000368508.3	-	16	2551	c.2353G>A	c.(2353-2355)Gtg>Atg	p.V785M	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V780M	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	785					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATAGCTTCACGTGGGTAACA	0.418			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								False	0	False	6:117704623	0	T	117704623	C	T	117704623	3	4	88	1	0	0	0	0	1	0	0	0	13610	536	19	1	4802	1	ROS1	6	117704623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94845	117704623	53410444	7534	15246											
ROS1	6098	broad.mit.edu	37	chr6	117709106	117709106	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgacttcaggagggtcTtgggtggatactttcacctc	13	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117709106T>G	ENST00000368508.3	-	13	2049	c.1851A>C	c.(1849-1851)caA>caC	p.Q617H	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.Q612H	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	617	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAGGAGGGTCTTGGGTGGATA	0.443			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								False	0	False	6:117709106	0	G	117709106	T	G	117709106	3	3	88	1	0	0	0	0	1	0	0	0	13610	1606	56	4	5316	4	ROS1	6	117709106	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4483	117709106	53405961	7535	15247											
ROS1	6098	broad.mit.edu	37	chr6	117718173	117718173	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgatcagccttaagttAtaacccaaaataggtccacc	6	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117718173A>G	ENST00000368508.3	-	7	882	c.684T>C	c.(682-684)taT>taC	p.Y228Y	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.Y237Y	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	228	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCCTTAAGTTATAACCCAAAA	0.418			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								False	0	False	6:117718173	0	G	117718173	A	G	117718173	2	3	88	1	0	0	0	0	0	0	0	1	13610	456	16	4		4	ROS1	6	117718173	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9067	117718173	53396894	7536	15248											
ROS1	6098	broad.mit.edu	37	chr6	117746757	117746757	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtacactgcaccacagaaatCcataggcagccaagagttgc	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117746757C>T	ENST00000368508.3	-	1	261	c.63G>A	c.(61-63)tgG>tgA	p.W21*	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.W21*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	21					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCACAGAAATCCATAGGCAGC	0.393			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								False	0	False	6:117746757	0	T	117746757	C	T	117746757	4	4	88	1	0	0	0	0	0	1	0	0	13610	856	30	2	7152	2	ROS1	6	117746757	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28584	117746757	53368310	7537	15249											
DCBLD1	285761	broad.mit.edu	37	chr6	117841037	117841037	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgaacacaagtgaagtAaccgtccgctttgagagtgg	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117841037A>G	ENST00000338728.5	+	3	504	c.384A>G	c.(382-384)gtA>gtG	p.V128V	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Silent_p.V128V|DCBLD1_ENST00000368503.4_Silent_p.V128V			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	128	CUB.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CAAGTGAAGTAACCGTCCGCT	0.438													False	0	False	6:117841037	0	G	117841037	A	G	117841037	2	3	88	1	0	0	0	0	0	0	0	1	4305	349	13	4		4	DCBLD1	6	117841037	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	94280	117841037	53274030	7538	15250											
NUS1	116150	broad.mit.edu	37	chr6	118015211	118015211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttttaaattgccatttgGcagtgaaggtgctgtctccg	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118015211G>A	ENST00000368494.3	+	3	728	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	187					angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		TTGCCATTTGGCAGTGAAGGT	0.378													False	0	False	6:118015211	0	A	118015211	G	A	118015211	3	1	88	1	0	0	0	0	1	0	0	0	10845	1203	42	2	569	2	NUS1	6	118015211	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174174	118015211	53099856	7539	15251											
SLC35F1	222553	broad.mit.edu	37	chr6	118475773	118475773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctataccaccacactagcCgtcagacaaggtaagctcac	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118475773C>T	ENST00000360388.4	+	2	540	c.339C>T	c.(337-339)gcC>gcT	p.A113A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	113					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCACACTAGCCGTCAGACAAG	0.408													False	0	False	6:118475773	0	T	118475773	C	T	118475773	2	4	88	1	0	0	0	0	0	0	0	1	14668	639	23	1		1	SLC35F1	6	118475773	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	460562	118475773	52639294	7540	15252											
FAM184A	79632	broad.mit.edu	37	chr6	119337965	119337965	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtggacagcttcaattgCcatatggtgcttccaagcta	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:119337965C>A	ENST00000338891.7	-	5	1920	c.1477G>T	c.(1477-1479)Gca>Tca	p.A493S	FAM184A_ENST00000522284.1_Missense_Mutation_p.A373S|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.A373S|FAM184A_ENST00000368475.4_Missense_Mutation_p.A373S|FAM184A_ENST00000521531.1_Missense_Mutation_p.A493S	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	493										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTTCAATTGCCATATGGTGC	0.348													False	0	False	6:119337965	0	A	119337965	C	A	119337965	3	1	88	1	0	0	0	0	1	0	0	0	5547	739	26	3	2001	3	FAM184A	6	119337965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	862192	119337965	51777102	7541	15253											
FAM184A	79632	broad.mit.edu	37	chr6	119338092	119338092	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taatattcttgctgagttctCtttgcttcatttactttcta	4	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:119338092C>A	ENST00000338891.7	-	5	1793	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N	FAM184A_ENST00000522284.1_Missense_Mutation_p.K330N|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330N|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330N|FAM184A_ENST00000521531.1_Missense_Mutation_p.K450N	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	450										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTGAGTTCTCTTTGCTTCAT	0.333													False	0	True	6:119338092	0	A	119338092	C	A	119338092	3	1	88	1	0	0	0	0	1	0	0	0	5547	912	32	3	2128	3	FAM184A	6	119338092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	119338092	51776975	7542	15254											
HSF2	3298	broad.mit.edu	37	chr6	122753094	122753094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcttatccagtataccgCctttccacttcttgcattcc	5	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:122753094C>T	ENST00000452194.1	+	12	1473	c.1286C>T	c.(1285-1287)gCc>gTc	p.A429V	HSF2_ENST00000368455.4_Missense_Mutation_p.A447V	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	447					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CAGTATACCGCCTTTCCACTT	0.413													False	0	False	6:122753094	0	T	122753094	C	T	122753094	3	4	88	1	0	0	0	0	1	0	0	0	7443	739	26	2	1390	2	HSF2	6	122753094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3415002	122753094	48361973	7543	15255											
PKIB	0	broad.mit.edu	37	chr6	123046319	123046319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaagaccaattggaaaaGcctcaaaatgaagaaaaatg	7	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:123046319G>A	ENST00000392490.1	+	4	613	c.216G>A	c.(214-216)aaG>aaA	p.K72K	PKIB_ENST00000354275.2_Silent_p.K72K|PKIB_ENST00000392491.2_Silent_p.K72K|PKIB_ENST00000368446.1_Silent_p.K81K|PKIB_ENST00000368448.1_Silent_p.K72K|PKIB_ENST00000368452.2_Silent_p.K72K|PKIB_ENST00000258014.3_Silent_p.K79K	NM_032471.5	NP_115860.1	Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	72							cAMP-dependent protein kinase inhibitor activity			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		AATTGGAAAAGCCTCAAAATG	0.294													False	0	True	6:123046319	0	A	123046319	G	A	123046319	2	1	88	1	0	0	0	0	0	0	0	1	12043	962	34	2		2	PKIB	6	123046319	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293225	123046319	48068748	7544	15256											
SMPDL3A	10924	broad.mit.edu	37	chr6	123127404	123127404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtaaattctttgtttgtgGctcctgctgttacaccagtg	9	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:123127404G>A	ENST00000368440.4	+	7	1123	c.946G>A	c.(946-948)Gct>Act	p.A316T	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.A185T	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	316					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TTTGTTTGTGGCTCCTGCTGT	0.318													False	0	False	6:123127404	0	A	123127404	G	A	123127404	3	1	88	1	0	0	0	0	1	0	0	0	14888	1203	42	2	972	2	SMPDL3A	6	123127404	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81085	123127404	47987663	7545	15257											
HEY2	23493	broad.mit.edu	37	chr6	126080535	126080535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccctgctccagcccaacGgcctccatgcctcagagtca	8	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126080535G>A	ENST00000368364.3	+	5	798	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	HEY2_ENST00000368365.1_Missense_Mutation_p.G155S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	201					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCAGCCCAACGGCCTCCATGC	0.657													False	0	False	6:126080535	0	A	126080535	G	A	126080535	3	1	88	1	0	0	0	0	1	0	0	0	7126	1116	39	1	619	1	HEY2	6	126080535	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2953131	126080535	45034532	7546	15258											
TRMT11	60487	broad.mit.edu	37	chr6	126319743	126319743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgaatttaaagaaaccGcaacatgtattttctgtttt	6	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126319743G>A	ENST00000334379.5	+	6	556	c.435G>A	c.(433-435)ccG>ccA	p.P145P	TRMT11_ENST00000368332.3_Silent_p.P145P|TRMT11_ENST00000450358.1_Silent_p.P145P	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	145					tRNA processing		methyltransferase activity|nucleic acid binding	p.P145P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TAAAGAAACCGCAACATGTAT	0.318													False	0	False	6:126319743	0	A	126319743	G	A	126319743	2	1	88	1	0	0	0	0	0	0	0	1	16645	1074	38	1		1	TRMT11	6	126319743	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	239208	126319743	44795324	7547	15259											
TRMT11	60487	broad.mit.edu	37	chr6	126332478	126332478	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttcgtcaatatggtttagaGaagtattaccttgatgtcct	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126332478G>A	ENST00000334379.5	+	9	961	c.840G>A	c.(838-840)gaG>gaA	p.E280E	TRMT11_ENST00000368332.3_Silent_p.E280E	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	280					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ATGGTTTAGAGAAGTATTACC	0.388													False	0	False	6:126332478	0	A	126332478	G	A	126332478	2	1	88	1	0	0	0	0	0	0	0	1	16645	933	33	2		2	TRMT11	6	126332478	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12735	126332478	44782589	7548	15260											
TRMT11	60487	broad.mit.edu	37	chr6	126342391	126342391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccagtcacacatcaaggCgcttgatcacaatggaaaag	8	10	3	1	rs143525602		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126342391C>T	ENST00000334379.5	+	12	1346	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	TRMT11_ENST00000368332.3_Missense_Mutation_p.R409C	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	409					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CACATCAAGGCGCTTGATCAC	0.403													False	0	False	6:126342391	0	T	126342391	C	T	126342391	3	4	88	1	0	0	0	0	1	0	0	0	16645	768	27	1	1271	1	TRMT11	6	126342391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9913	126342391	44772676	7549	15261											
CENPW	387103	broad.mit.edu	37	chr6	126661536	126661536	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtctggagaaaagtggTgacttattggtgagattcca	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126661536T>C	ENST00000368328.4	+	1	217	c.117T>C	c.(115-117)ggT>ggC	p.G39G	CENPW_ENST00000368325.1_Silent_p.G39G|CENPW_ENST00000368326.1_Silent_p.G39G			Q5EE01	CENPW_HUMAN	centromere protein W	39						chromosome, centromeric region|nucleus	DNA binding			kidney(2)|large_intestine(1)|lung(3)	6						AGAAAAGTGGTGACTTATTGG	0.517													False	0	False	6:126661536	0	C	126661536	T	C	126661536	2	2	88	1	0	0	0	0	0	0	0	1	3267	1683	59	4		4	CENPW	6	126661536	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	319145	126661536	44453531	7550	15262											
RSPO3	84870	broad.mit.edu	37	chr6	127440424	127440424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgcctcccggggaaggcgCcagcgaagaagtaagtgcag	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127440424C>T	ENST00000356698.4	+	1	676	c.87C>T	c.(85-87)cgC>cgT	p.R29R	RSPO3_ENST00000368317.3_Silent_p.R29R	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	29						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GGGGAAGGCGCCAGCGAAGAA	0.532													False	0	False	6:127440424	0	T	127440424	C	T	127440424	2	4	88	1	0	0	0	0	0	0	0	1	13790	726	26	2		2	RSPO3	6	127440424	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	778888	127440424	43674643	7551	15263											
RSPO3	84870	broad.mit.edu	37	chr6	127476492	127476492	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggtccgagaaataatacaGcatccttcagcaaagggtaa	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127476492G>T	ENST00000356698.4	+	4	1132	c.543G>T	c.(541-543)caG>caT	p.Q181H	RSPO3_ENST00000368317.3_Missense_Mutation_p.Q181H	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	181	TSP type-1.					extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AAATAATACAGCATCCTTCAG	0.463													False	0	False	6:127476492	0	T	127476492	G	T	127476492	3	4	88	1	0	0	0	0	1	0	0	0	13790	962	34	3	557	3	RSPO3	6	127476492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36068	127476492	43638575	7552	15264											
RNF146	81847	broad.mit.edu	37	chr6	127608109	127608109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaatgggtggtggcagtaCgatgagcgcactagtagaga	16	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127608109C>T	ENST00000368314.1	+	3	775	c.351C>T	c.(349-351)taC>taT	p.Y117Y	RNF146_ENST00000610153.1_Silent_p.Y117Y|RNF146_ENST00000309649.3_Silent_p.Y116Y|RNF146_ENST00000608991.1_Silent_p.Y116Y|RNF146_ENST00000356799.2_3'UTR	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	117	WWE.				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGTGGCAGTACGATGAGCGCA	0.423													False	0	False	6:127608109	0	T	127608109	C	T	127608109	2	4	88	1	0	0	0	0	0	0	0	1	13527	547	19	1		1	RNF146	6	127608109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131617	127608109	43506958	7553	15265											
RNF146	81847	broad.mit.edu	37	chr6	127608756	127608756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatcgatcgggaactgatcGatcagtagcagggggtggaa	16	6	1	2	rs143742264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127608756G>A	ENST00000368314.1	+	3	1422	c.998G>A	c.(997-999)cGa>cAa	p.R333Q	RNF146_ENST00000610153.1_Missense_Mutation_p.R333Q|RNF146_ENST00000309649.3_Missense_Mutation_p.R332Q|RNF146_ENST00000608991.1_Missense_Mutation_p.R332Q|RNF146_ENST00000356799.2_3'UTR	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	333					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGAACTGATCGATCAGTAGCA	0.463													False	0	True	6:127608756	0	A	127608756	G	A	127608756	3	1	88	1	0	0	0	0	1	0	0	0	13527	1058	37	1	997	1	RNF146	6	127608756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	647	127608756	43506311	7554	15266											
ECHDC1	55862	broad.mit.edu	37	chr6	127611094	127611094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttcctaaaagatctctttCgttctgtaatgcttcctcca	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127611094C>T	ENST00000531967.1	-	6	1347	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	ECHDC1_ENST00000474289.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000309620.9_Missense_Mutation_p.E259K|ECHDC1_ENST00000430841.2_Missense_Mutation_p.E276K|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000454591.2_Missense_Mutation_p.E201K|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000454859.3_Missense_Mutation_p.E276K	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	282							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AGATCTCTTTCGTTCTGTAAT	0.383													False	0	True	6:127611094	0	T	127611094	C	T	127611094	3	4	88	1	0	0	0	0	1	0	0	0	4923	893	31	1	83	1	ECHDC1	6	127611094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2338	127611094	43503973	7555	15267											
KIAA0408	9729	broad.mit.edu	37	chr6	127765336	127765336	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagggggtgcagatggagatCtggatgcccatctggagggg	19	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127765336C>A	ENST00000483725.3	-	6	2339	c.2003G>T	c.(2002-2004)aGa>aTa	p.R668I	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	668							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AGATGGAGATCTGGATGCCCA	0.517													False	0	False	6:127765336	0	A	127765336	C	A	127765336	3	1	88	1	0	0	0	0	1	0	0	0	8224	913	32	3	85	3	KIAA0408	6	127765336	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154242	127765336	43349731	7556	15268											
KIAA0408	9729	broad.mit.edu	37	chr6	127771148	127771148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacttactgtactgagggcgCcagaacagctcttgctgtct	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127771148C>A	ENST00000483725.3	-	3	821	c.485G>T	c.(484-486)gGc>gTc	p.G162V	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	162							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ACTGAGGGCGCCAGAACAGCT	0.433													False	0	False	6:127771148	0	A	127771148	C	A	127771148	3	1	88	1	0	0	0	0	1	0	0	0	8224	739	26	3	1615	3	KIAA0408	6	127771148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5812	127771148	43343919	7557	15269											
KIAA0408	9729	broad.mit.edu	37	chr6	127771254	127771254	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaccctacttttgattTttttgttgctttttgttcct	4	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127771254T>A	ENST00000483725.3	-	3	715	c.379A>T	c.(379-381)Aaa>Taa	p.K127*	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	127							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ACTTTTGATTTTTTTGTTGCT	0.418													False	0	True	6:127771254	0	A	127771254	T	A	127771254	4	1	88	1	0	0	0	0	0	1	0	0	8224	1850	64	5	1721	5	KIAA0408	6	127771254	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106	127771254	43343813	7558	15270											
C6orf58	352999	broad.mit.edu	37	chr6	127898440	127898440	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgtggaaggagagtcCtggtcagctcagtgactaca	12	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127898440C>A	ENST00000329722.7	+	1	122	c.110C>A	c.(109-111)cCt>cAt	p.P37H	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	37						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AAGGAGAGTCCTGGTCAGCTC	0.463													False	0	False	6:127898440	0	A	127898440	C	A	127898440	3	1	88	1	0	0	0	0	1	0	0	0	2385	681	24	3	112	3	C6orf58	6	127898440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127186	127898440	43216627	7559	15271											
THEMIS	387357	broad.mit.edu	37	chr6	128134272	128134272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatattcaagcggcccacaGgaatttcccagcactccgtg	8	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128134272G>A	ENST00000368250.1	-	5	1775	c.1277C>T	c.(1276-1278)cCt>cTt	p.P426L	THEMIS_ENST00000543064.1_Missense_Mutation_p.P505L|THEMIS_ENST00000368248.2_Missense_Mutation_p.P505L|THEMIS_ENST00000537166.1_Missense_Mutation_p.P470L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	505	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCGGCCCACAGGAATTTCCCA	0.478													False	0	False	6:128134272	0	A	128134272	G	A	128134272	3	1	88	1	0	0	0	0	1	0	0	0	15942	1000	35	2	544	2	THEMIS	6	128134272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235832	128134272	42980795	7560	15272											
THEMIS	387357	broad.mit.edu	37	chr6	128134756	128134756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaactccctcggtcgccGcttgaacttgcctttatagc	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128134756G>A	ENST00000368250.1	-	5	1291	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	THEMIS_ENST00000543064.1_Missense_Mutation_p.R344W|THEMIS_ENST00000368248.2_Missense_Mutation_p.R344W|THEMIS_ENST00000537166.1_Missense_Mutation_p.R309W			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	344	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTCGGTCGCCGCTTGAACTTG	0.468													False	0	False	6:128134756	0	A	128134756	G	A	128134756	3	1	88	1	0	0	0	0	1	0	0	0	15942	1086	38	1	1028	1	THEMIS	6	128134756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	484	128134756	42980311	7561	15273											
THEMIS	387357	broad.mit.edu	37	chr6	128176327	128176327	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catttccaaacatttcataaAtagagcctaaaaggaaagaa	5	7	1	2	rs141623918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128176327A>C	ENST00000543064.1	-	2	246	c.98T>G	c.(97-99)aTt>aGt	p.I33S	THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000368248.2_Missense_Mutation_p.I33S|THEMIS_ENST00000537166.1_5'UTR	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	33	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CATTTCATAAATAGAGCCTAA	0.289													False	0	True	6:128176327	0	C	128176327	A	C	128176327	3	2	88	1	0	0	0	0	1	0	0	0	15942	101	4	4	1968	4	THEMIS	6	128176327	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41571	128176327	42938740	7562	15274											
PTPRK	5796	broad.mit.edu	37	chr6	128505667	128505667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagaactcggatctcatattCggtatctggatctaaatgcc	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128505667C>T	ENST00000368227.3	-	7	1438	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	PTPRK_ENST00000368207.3_Missense_Mutation_p.E358K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.E358K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E358K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E358K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E358K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E358K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	358	Fibronectin type-III 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTCATATTCGGTATCTGGA	0.458													False	0	False	6:128505667	0	T	128505667	C	T	128505667	3	4	88	1	0	0	0	0	1	0	0	0	12884	893	31	1	3368	1	PTPRK	6	128505667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	329340	128505667	42609400	7563	15275											
LAMA2	3908	broad.mit.edu	37	chr6	129371108	129371108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctaatgctcttatcaCgaccaatgcaacatgtggag	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129371108C>T	ENST00000421865.2	+	2	207	c.158C>T	c.(157-159)aCg>aTg	p.T53M		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	53	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTCTTATCACGACCAATGCA	0.443													False	0	False	6:129371108	0	T	129371108	C	T	129371108	3	4	88	1	0	0	0	0	1	0	0	0	8657	536	19	1	164	1	LAMA2	6	129371108	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	865441	129371108	41743959	7564	15276											
LAMA2	3908	broad.mit.edu	37	chr6	129511410	129511410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttcttcaatttgcaagagGataattggaaaggctgcgat	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129511410G>A	ENST00000421865.2	+	11	1577	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	510	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTGCAAGAGGATAATTGGAA	0.433													False	0	False	6:129511410	0	A	129511410	G	A	129511410	3	1	88	1	0	0	0	0	1	0	0	0	8657	1174	41	2	1570	2	LAMA2	6	129511410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140302	129511410	41603657	7565	15277											
LAMA2	3908	broad.mit.edu	37	chr6	129612818	129612818	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccacagtcaaactggacagTgtgagtgcagagccaacgtt	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129612818T>G	ENST00000421865.2	+	20	2858	c.2809T>G	c.(2809-2811)Tgt>Ggt	p.C937G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	937	Laminin EGF-like 9.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACTGGACAGTGTGAGTGCAG	0.468													False	0	False	6:129612818	0	G	129612818	T	G	129612818	3	3	88	1	0	0	0	0	1	0	0	0	8657	1696	59	4	2887	4	LAMA2	6	129612818	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	101408	129612818	41502249	7566	15278											
LAMA2	3908	broad.mit.edu	37	chr6	129618972	129618972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaatgtgaccgctgtgCccacggctatttcaacttcc	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129618972C>T	ENST00000421865.2	+	21	3048	c.2999C>T	c.(2998-3000)gCc>gTc	p.A1000V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1000	Laminin EGF-like 10.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GACCGCTGTGCCCACGGCTAT	0.453													False	0	True	6:129618972	0	T	129618972	C	T	129618972	3	4	88	1	0	0	0	0	1	0	0	0	8657	739	26	2	3081	2	LAMA2	6	129618972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6154	129618972	41496095	7567	15279											
LAMA2	3908	broad.mit.edu	37	chr6	129634016	129634016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctataggcttgtaactGcagcacagtgggatccttgg	11	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129634016G>A	ENST00000421865.2	+	23	3234	c.3185G>A	c.(3184-3186)tGc>tAc	p.C1062Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1062	Laminin EGF-like 12.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTTGTAACTGCAGCACAGTG	0.363													False	0	False	6:129634016	0	A	129634016	G	A	129634016	3	1	88	1	0	0	0	0	1	0	0	0	8657	1319	46	2	3275	2	LAMA2	6	129634016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15044	129634016	41481051	7568	15280											
LAMA2	3908	broad.mit.edu	37	chr6	129687448	129687448	+	Missense_Mutation	SNP	C	C	T													gagcatcaacctcactggtcCgctgcctgcgccatataaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129687448C>T	ENST00000421865.2	+	33	4851	c.4802C>T	c.(4801-4803)cCg>cTg	p.P1601L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1601	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTCACTGGTCCGCTGCCTGCG	0.512													False	0	False	6:129687448	0	T	129687448	C	T	129687448	3	4	88	1	0	0	0	0	1	0	0	0	8657	652	23	1	4932	1	LAMA2	6	129687448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53432	129687448	41427619	7569	15281	192	2									
LAMA2	3908	broad.mit.edu	37	chr6	129687457	129687457	+	Missense_Mutation	SNP	C	C	T													cctcactggtccgctgcctgCgccatataaaatgctgtatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129687457C>T	ENST00000421865.2	+	33	4860	c.4811C>T	c.(4810-4812)gCg>gTg	p.A1604V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1604	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCGCTGCCTGCGCCATATAAA	0.512													False	0	True	6:129687457	0	T	129687457	C	T	129687457	3	4	88	1	0	0	0	0	1	0	0	0	8657	768	27	1	4941	1	LAMA2	6	129687457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	129687457	41427610	7570	15282	192	2									
LAMA2	3908	broad.mit.edu	37	chr6	129781471	129781471	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggatgcactgtcaggTtagttgagatgagaactctc	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129781471T>C	ENST00000421865.2	+	49	7041		c.e49+2			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACTGTCAGGTTAGTTGAGAT	0.408													False	0	False	6:129781471	0	C	129781471	T	C	129781471	5	2	88	1	0	0	0	0	0	0	1	0	8657	1739	60	4	7188	4	LAMA2	6	129781471	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	94014	129781471	41333596	7571	15283											
ARHGAP18	93663	broad.mit.edu	37	chr6	129950516	129950516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggtaatgtggcatcatcGcctttgctcttctggatttt	9	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129950516G>A	ENST00000368149.2	-	5	856	c.768C>T	c.(766-768)ggC>ggT	p.G256G		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	256					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TGGCATCATCGCCTTTGCTCT	0.413													False	0	False	6:129950516	0	A	129950516	G	A	129950516	2	1	88	1	0	0	0	0	0	0	0	1	870	1074	38	1		1	ARHGAP18	6	129950516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169045	129950516	41164551	7572	15284											
SAMD3	154075	broad.mit.edu	37	chr6	130497140	130497140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaagcgatctttgagggctCgtttccataaaaactgtaaa	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130497140C>T	ENST00000532763.1	-	7	791	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	SAMD3_ENST00000368134.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000457563.2_Missense_Mutation_p.R247Q|SAMD3_ENST00000437477.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.R223Q			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	223										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTTGAGGGCTCGTTTCCATAA	0.348													False	0	False	6:130497140	0	T	130497140	C	T	130497140	3	4	88	1	0	0	0	0	1	0	0	0	13899	884	31	1	914	1	SAMD3	6	130497140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	546624	130497140	40617927	7573	15285											
SAMD3	154075	broad.mit.edu	37	chr6	130505263	130505263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacgaagccacagccatcCtcatccaggaaagggtgggc	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130505263C>T	ENST00000532763.1	-	6	762	c.633G>A	c.(631-633)gaG>gaA	p.E211E	SAMD3_ENST00000368134.2_Silent_p.E213E|SAMD3_ENST00000457563.2_Silent_p.E237E|SAMD3_ENST00000437477.2_Silent_p.E213E|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Silent_p.E213E|SAMD3_ENST00000324172.6_Silent_p.E213E			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	213										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CACAGCCATCCTCATCCAGGA	0.468													False	0	False	6:130505263	0	T	130505263	C	T	130505263	2	4	88	1	0	0	0	0	0	0	0	1	13899	680	24	2		2	SAMD3	6	130505263	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8123	130505263	40609804	7574	15286											
TMEM200A	114801	broad.mit.edu	37	chr6	130762475	130762475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taactgtgttattgatgagcCcagtatagataacatcactg	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130762475C>A	ENST00000392429.1	+	2	3286	c.908C>A	c.(907-909)cCc>cAc	p.P303H	TMEM200A_ENST00000296978.3_Missense_Mutation_p.P303H|TMEM200A_ENST00000545622.1_Missense_Mutation_p.P303H	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	303						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATTGATGAGCCCAGTATAGAT	0.408													False	0	True	6:130762475	0	A	130762475	C	A	130762475	3	1	88	1	0	0	0	0	1	0	0	0	16205	623	22	3	910	3	TMEM200A	6	130762475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257212	130762475	40352592	7575	15287											
EPB41L2	2037	broad.mit.edu	37	chr6	131190813	131190813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccatgtcttgcttaagagCgccttcgtgtacactcttct	7	13	3	1	rs150873575	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131190813C>T	ENST00000337057.3	-	15	2678	c.2497G>A	c.(2497-2499)Gct>Act	p.A833T	EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A833T|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.A763T|EPB41L2_ENST00000524581.1_Missense_Mutation_p.A211T|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000445890.2_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	833					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGCTTAAGAGCGCCTTCGTGT	0.458													False	0	False	6:131190813	0	T	131190813	C	T	131190813	3	4	88	1	0	0	0	0	1	0	0	0	5185	768	27	1	540	1	EPB41L2	6	131190813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428338	131190813	39924254	7576	15288											
EPB41L2	2037	broad.mit.edu	37	chr6	131199340	131199340	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaaattgcgcttgagttcActaatgctagcctgatgttt	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131199340A>G	ENST00000337057.3	-	14	2128	c.1947T>C	c.(1945-1947)agT>agC	p.S649S	EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000368128.2_Silent_p.S649S|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000524581.1_Silent_p.S27S|EPB41L2_ENST00000530757.1_Silent_p.S48S|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000445890.2_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	649	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GCTTGAGTTCACTAATGCTAG	0.453													False	0	False	6:131199340	0	G	131199340	A	G	131199340	2	3	88	1	0	0	0	0	0	0	0	1	5185	156	6	4		4	EPB41L2	6	131199340	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8527	131199340	39915727	7577	15289											
EPB41L2	2037	broad.mit.edu	37	chr6	131276458	131276458	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacttactaattcagtaggCtgttgaggaaaaaaaaataa	7	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131276458C>T	ENST00000337057.3	-	3	674		c.e3-1		EPB41L2_ENST00000528282.1_Splice_Site|EPB41L2_ENST00000529208.1_Splice_Site|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000525271.1_Splice_Site|EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000530481.1_Splice_Site|EPB41L2_ENST00000392427.3_Splice_Site|EPB41L2_ENST00000525193.1_Splice_Site|EPB41L2_ENST00000527411.1_Splice_Site|EPB41L2_ENST00000527659.1_Splice_Site|EPB41L2_ENST00000445890.2_Splice_Site	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATTCAGTAGGCTGTTGAGGAA	0.358													False	0	False	6:131276458	0	T	131276458	C	T	131276458	5	4	88	1	0	0	0	0	0	0	1	0	5185	811	28	2	2593	2	EPB41L2	6	131276458	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77118	131276458	39838609	7578	15290											
AKAP7	9465	broad.mit.edu	37	chr6	131486247	131486247	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaggaattaagatcctgcaGaatgcaataatacaacaaga	7	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131486247G>T	ENST00000431975.2	+	4	416	c.318G>T	c.(316-318)caG>caT	p.Q106H	AKAP7_ENST00000541650.1_Missense_Mutation_p.Q105H|AKAP7_ENST00000368123.4_Missense_Mutation_p.Q84H|AKAP7_ENST00000366358.2_3'UTR	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AGATCCTGCAGAATGCAATAA	0.323													False	0	False	6:131486247	0	T	131486247	G	T	131486247	3	4	88	1	0	0	0	0	1	0	0	0	456	933	33	3	262	3	AKAP7	6	131486247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209789	131486247	39628820	7579	15291											
AKAP7	9465	broad.mit.edu	37	chr6	131520710	131520710	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatcaccgtggctccgtaaGaatgtgagtgcatgttctta	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131520710G>A	ENST00000431975.2	+	6	797	c.699G>A	c.(697-699)aaG>aaA	p.K233K	AKAP7_ENST00000541650.1_Silent_p.K232K|AKAP7_ENST00000368123.4_Silent_p.K211K	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GGCTCCGTAAGAATGTGAGTG	0.453											OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	6:131520710	0	A	131520710	G	A	131520710	2	1	88	1	0	0	0	0	0	0	0	1	456	933	33	2		2	AKAP7	6	131520710	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34463	131520710	39594357	7580	15292											
AKAP7	9465	broad.mit.edu	37	chr6	131602681	131602681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgtaggtgaaaagaacGgaggggagcccgatgacgct	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131602681G>A	ENST00000431975.2	+	8	960	c.862G>A	c.(862-864)Gga>Aga	p.G288R	AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000368123.4_Missense_Mutation_p.G266R|AKAP7_ENST00000342266.4_Missense_Mutation_p.G21R|AKAP7_ENST00000474850.2_Missense_Mutation_p.G44R|AKAP7_ENST00000263050.3_Missense_Mutation_p.G24R	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	44					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TGAAAAGAACGGAGGGGAGCC	0.507													False	0	False	6:131602681	0	A	131602681	G	A	131602681	3	1	88	1	0	0	0	0	1	0	0	0	456	1117	39	1	948	1	AKAP7	6	131602681	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81971	131602681	39512386	7581	15293											
MED23	9439	broad.mit.edu	37	chr6	131919805	131919805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggtaataatgtcgttttCgttgctcattgacttccact	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131919805C>T	ENST00000403834.3	-	19	2508	c.2335G>A	c.(2335-2337)Gaa>Aaa	p.E779K	MED23_ENST00000354577.4_Missense_Mutation_p.E779K|MED23_ENST00000368058.1_Missense_Mutation_p.E779K|MED23_ENST00000368053.4_Missense_Mutation_p.E779K|MED23_ENST00000368068.3_Missense_Mutation_p.E773K|MED23_ENST00000368060.3_Missense_Mutation_p.E773K|MED23_ENST00000545957.1_Missense_Mutation_p.E414K|MED23_ENST00000540546.1_Missense_Mutation_p.E779K			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	773					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATGTCGTTTTCGTTGCTCATT	0.393													False	0	True	6:131919805	0	T	131919805	C	T	131919805	3	4	88	1	0	0	0	0	1	0	0	0	9508	893	31	1	1840	1	MED23	6	131919805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317124	131919805	39195262	7582	15294											
MED23	9439	broad.mit.edu	37	chr6	131923466	131923466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaagcgtgtaaactgcgGttgtacctctgagctaccta	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131923466G>A	ENST00000403834.3	-	17	2178	c.2005C>T	c.(2005-2007)Ccg>Tcg	p.P669S	MED23_ENST00000354577.4_Missense_Mutation_p.P669S|MED23_ENST00000368058.1_Missense_Mutation_p.P669S|MED23_ENST00000368053.4_Missense_Mutation_p.P669S|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368068.3_Missense_Mutation_p.P663S|MED23_ENST00000368060.3_Missense_Mutation_p.P663S|MED23_ENST00000545957.1_Missense_Mutation_p.P304S|MED23_ENST00000540546.1_Missense_Mutation_p.P669S			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	663					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTAAACTGCGGTTGTACCTCT	0.418													False	0	False	6:131923466	0	A	131923466	G	A	131923466	3	1	88	1	0	0	0	0	1	0	0	0	9508	1261	44	2	2178	2	MED23	6	131923466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3661	131923466	39191601	7583	15295											
MED23	9439	broad.mit.edu	37	chr6	131927747	131927748	+	Frame_Shift_Ins	INS	-	-	GCGGATTG													ttgactggggtttgttaataINStcaggaactgggatatactg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131927747_131927748insGCGGATTG	ENST00000368068.3	-	13	1417_1418	c.1238_1239insCAATCCGC	c.(1237-1239)gatfs	p.-413fs	MED23_ENST00000368060.3_Frame_Shift_Ins_p.-413fs|MED23_ENST00000545957.1_Frame_Shift_Ins_p.-54fs|MED23_ENST00000368058.1_Frame_Shift_Ins_p.-419fs|MED23_ENST00000403834.3_Frame_Shift_Ins_p.-419fs|MED23_ENST00000540546.1_Frame_Shift_Ins_p.-419fs|MED23_ENST00000539158.1_Frame_Shift_Ins_p.-413fs|MED23_ENST00000368053.4_Frame_Shift_Ins_p.-419fs|MED23_ENST00000354577.4_Frame_Shift_Ins_p.-419fs	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTTTGTTAATATCAGGAACTGG	0.307													False	0	False	6:131927747	0	GCGGATTG	131927748	-	GCGGATTG	131927747	7	5	88	1	0	1	1	0	0	0	0	0	9508	446	16	0	2942	0	MED23	6	131927747	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	4281	131927747	39187320	7584	15296											
MED23	9439	broad.mit.edu	37	chr6	131931290	131931290	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacaggagttggcttgttcCcccatcgtcaaacttctcct	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131931290C>A	ENST00000403834.3	-	11	1164	c.991G>T	c.(991-993)Gga>Tga	p.G331*	MED23_ENST00000354577.4_Nonsense_Mutation_p.G331*|MED23_ENST00000368058.1_Nonsense_Mutation_p.G331*|MED23_ENST00000368053.4_Nonsense_Mutation_p.G331*|MED23_ENST00000539158.1_Nonsense_Mutation_p.G325*|MED23_ENST00000368068.3_Nonsense_Mutation_p.G325*|MED23_ENST00000368060.3_Nonsense_Mutation_p.G325*|MED23_ENST00000545957.1_Nonsense_Mutation_p.G14*|MED23_ENST00000540546.1_Nonsense_Mutation_p.G331*			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	325					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGGCTTGTTCCCCCATCGTCA	0.498													False	0	True	6:131931290	0	A	131931290	C	A	131931290	4	1	88	1	0	0	0	0	0	1	0	0	9508	632	22	3	3216	3	MED23	6	131931290	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3543	131931290	39183777	7585	15297											
ENPP3	5169	broad.mit.edu	37	chr6	131997935	131997935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctggacctgcccaaagCtgaaaggtaatgtctagtgt	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131997935C>T	ENST00000414305.1	+	11	1260	c.932C>T	c.(931-933)gCt>gTt	p.A311V	ENPP3_ENST00000357639.3_Missense_Mutation_p.A311V|ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.A311V			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	311	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTGCCCAAAGCTGAAAGGTAA	0.318													False	0	False	6:131997935	0	T	131997935	C	T	131997935	3	4	88	1	0	0	0	0	1	0	0	0	5163	797	28	2	970	2	ENPP3	6	131997935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66645	131997935	39117132	7586	15298											
ENPP3	5169	broad.mit.edu	37	chr6	132043409	132043409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaaacaatggaacccatgGtagtttaaaccatcttctga	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132043409G>A	ENST00000414305.1	+	19	1938	c.1610G>A	c.(1609-1611)gGt>gAt	p.G537D	ENPP3_ENST00000357639.3_Missense_Mutation_p.G537D|ENPP3_ENST00000358229.5_Missense_Mutation_p.G537D			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	537					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGAACCCATGGTAGTTTAAAC	0.408													False	0	False	6:132043409	0	A	132043409	G	A	132043409	3	1	88	1	0	0	0	0	1	0	0	0	5163	1261	44	2	1680	2	ENPP3	6	132043409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45474	132043409	39071658	7587	15299											
STX7	8417	broad.mit.edu	37	chr6	132785210	132785210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccacattggcttctatGctatctgtaaaataaaacac	4	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132785210G>A	ENST00000367941.2	-	9	728	c.615C>T	c.(613-615)agC>agT	p.S205S	STX7_ENST00000367937.4_Silent_p.S205S	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	205	t-SNARE coiled-coil homology.				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		TGGCTTCTATGCTATCTGTAA	0.363													False	0	False	6:132785210	0	A	132785210	G	A	132785210	2	1	88	1	0	0	0	0	0	0	0	1	15432	1310	46	2		2	STX7	6	132785210	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	741801	132785210	38329857	7588	15300											
STX7	8417	broad.mit.edu	37	chr6	132792628	132792628	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctggaactggctcttactcGagcaacaaactctttctctc	6	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132792628G>A	ENST00000367941.2	-	5	474	c.361C>T	c.(361-363)Cga>Tga	p.R121*	STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Nonsense_Mutation_p.R121*	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	121					intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GCTCTTACTCGAGCAACAAAC	0.428													False	0	False	6:132792628	0	A	132792628	G	A	132792628	4	1	88	1	0	0	0	0	0	1	0	0	15432	1066	37	1	448	1	STX7	6	132792628	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7418	132792628	38322439	7589	15301											
TAAR8	83551	broad.mit.edu	37	chr6	132873992	132873992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaatctcttagtaatgaCttctgttcttcattttaagc	6	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132873992C>T	ENST00000275200.1	+	1	161	c.161C>T	c.(160-162)aCt>aTt	p.T54I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	54						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTAGTAATGACTTCTGTTCTT	0.448													False	0	False	6:132873992	0	T	132873992	C	T	132873992	3	4	88	1	0	0	0	0	1	0	0	0	15575	565	20	2	163	2	TAAR8	6	132873992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81364	132873992	38241075	7590	15302											
TAAR8	83551	broad.mit.edu	37	chr6	132874819	132874819	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttattttaagtggagatgttTtaaaggctagttcatcaacc	8	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132874819T>A	ENST00000275200.1	+	1	988	c.988T>A	c.(988-990)Tta>Ata	p.L330I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	330						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TGGAGATGTTTTAAAGGCTAG	0.264													False	0	True	6:132874819	0	A	132874819	T	A	132874819	3	1	88	1	0	0	0	0	1	0	0	0	15575	1838	64	5	990	5	TAAR8	6	132874819	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	827	132874819	38240248	7591	15303											
TAAR6	319100	broad.mit.edu	37	chr6	132892109	132892109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttattatgataattctgTatggtaacatatttcttgtg	6	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132892109T>C	ENST00000275198.1	+	1	649	c.649T>C	c.(649-651)Tat>Cat	p.Y217H		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	217						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GATAATTCTGTATGGTAACAT	0.383													False	0	False	6:132892109	0	C	132892109	T	C	132892109	3	2	88	1	0	0	0	0	1	0	0	0	15574	1638	57	4	651	4	TAAR6	6	132892109	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17290	132892109	38222958	7592	15304											
TAAR5	9038	broad.mit.edu	37	chr6	132909876	132909876	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttctggctcagtgtgagtTtcagtgccttccgaaaccac	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132909876T>G	ENST00000258034.2	-	1	1001	c.950A>C	c.(949-951)aAa>aCa	p.K317T		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	317					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CAGTGTGAGTTTCAGTGCCTT	0.468													False	0	True	6:132909876	0	G	132909876	T	G	132909876	3	3	88	1	0	0	0	0	1	0	0	0	15573	1841	64	4	67	4	TAAR5	6	132909876	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17767	132909876	38205191	7593	15305											
TAAR5	9038	broad.mit.edu	37	chr6	132910426	132910426	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggggtcacagatggcacAgtggcggtcaatggaaatga	16	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132910426A>C	ENST00000258034.2	-	1	451	c.400T>G	c.(400-402)Tgt>Ggt	p.C134G		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	134					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CAGATGGCACAGTGGCGGTCA	0.577													False	0	False	6:132910426	0	C	132910426	A	C	132910426	3	2	88	1	0	0	0	0	1	0	0	0	15573	188	7	4	617	4	TAAR5	6	132910426	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	550	132910426	38204641	7594	15306											
TAAR2	9287	broad.mit.edu	37	chr6	132939158	132939158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatggaaattatcatggCaagattgccaaatattgtga	10	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132939158C>T	ENST00000275191.2	-	1	159	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	TAAR2_ENST00000367931.1_Missense_Mutation_p.A63T|TAAR2_ENST00000537809.1_Missense_Mutation_p.A18T	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	63						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		ATTATCATGGCAAGATTGCCA	0.423													False	0	False	6:132939158	0	T	132939158	C	T	132939158	3	4	88	1	0	0	0	0	1	0	0	0	15572	710	25	2	872	2	TAAR2	6	132939158	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28732	132939158	38175909	7595	15307											
TAAR1	134864	broad.mit.edu	37	chr6	132966836	132966836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctgagctcagcataatgtCggtgcttgtgtgaattttac	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132966836C>T	ENST00000275216.1	-	1	306	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	103						plasma membrane		p.D103N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	AGCATAATGTCGGTGCTTGTG	0.438													False	0	False	6:132966836	0	T	132966836	C	T	132966836	3	4	88	1	0	0	0	0	1	0	0	0	15571	884	31	1	716	1	TAAR1	6	132966836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27678	132966836	38148231	7596	15308											
VNN1	8876	broad.mit.edu	37	chr6	133004445	133004445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcttcagactaaacaagCgtccgtcagttgacacctga	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133004445C>T	ENST00000367928.4	-	7	1389	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	459					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	p.R459H(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ACTAAACAAGCGTCCGTCAGT	0.398													False	0	True	6:133004445	0	T	133004445	C	T	133004445	3	4	88	1	0	0	0	0	1	0	0	0	17266	768	27	1	169	1	VNN1	6	133004445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37609	133004445	38110622	7597	15309											
EYA4	2070	broad.mit.edu	37	chr6	133836487	133836487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctgccaagagggatgcCtggctacagttaagggcaga	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133836487C>T	ENST00000367895.5	+	17	1994	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A	RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355167.3_Silent_p.A510A|EYA4_ENST00000452339.2_Silent_p.A456A|EYA4_ENST00000430974.2_Silent_p.A462A|EYA4_ENST00000355286.6_Silent_p.A487A|EYA4_ENST00000525849.1_Silent_p.A487A|EYA4_ENST00000531901.1_Silent_p.A516A|EYA4_ENST00000431403.2_Silent_p.A510A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	510					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGAGGGATGCCTGGCTACAGT	0.428													False	0	False	6:133836487	0	T	133836487	C	T	133836487	2	4	88	1	0	0	0	0	0	0	0	1	5364	668	24	2		2	EYA4	6	133836487	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	832042	133836487	37278580	7598	15310											
EYA4	2070	broad.mit.edu	37	chr6	133844298	133844298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttccccattgagaatatttAcagtgcaactaaaataggta	6	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133844298A>G	ENST00000367895.5	+	18	2185	c.1721A>G	c.(1720-1722)tAc>tGc	p.Y574C	RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355167.3_Missense_Mutation_p.Y574C|EYA4_ENST00000452339.2_Missense_Mutation_p.Y520C|EYA4_ENST00000430974.2_Missense_Mutation_p.Y526C|EYA4_ENST00000355286.6_Missense_Mutation_p.Y551C|EYA4_ENST00000525849.1_Missense_Mutation_p.Y551C|EYA4_ENST00000531901.1_Missense_Mutation_p.Y580C|EYA4_ENST00000431403.2_Missense_Mutation_p.Y574C	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	574					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GAGAATATTTACAGTGCAACT	0.388													False	0	True	6:133844298	0	G	133844298	A	G	133844298	3	3	88	1	0	0	0	0	1	0	0	0	5364	391	14	4	1787	4	EYA4	6	133844298	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7811	133844298	37270769	7599	15311											
SLC2A12	154091	broad.mit.edu	37	chr6	134350298	134350298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctttcatcaccagaaacCgagggcttggaggaagaaaa	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:134350298C>T	ENST00000275230.5	-	2	820	c.665G>A	c.(664-666)cGg>cAg	p.R222Q		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	222						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CACCAGAAACCGAGGGCTTGG	0.448													False	0	False	6:134350298	0	T	134350298	C	T	134350298	3	4	88	1	0	0	0	0	1	0	0	0	14621	652	23	1	1204	1	SLC2A12	6	134350298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	506000	134350298	36764769	7600	15312											
SGK1	6446	broad.mit.edu	37	chr6	134495755	134495755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaggagaaataaagaaacGtttagacggcttcataacgt	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:134495755G>A	ENST00000367857.5	-	1	248	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	SGK1_ENST00000367858.5_Intron|SGK1_ENST00000237305.7_Intron|SGK1_ENST00000528577.1_Intron|SGK1_ENST00000413996.3_Intron|SGK1_ENST00000475719.2_Intron			O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.R6S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ATAAAGAAACGTTTAGACGGC	0.463											OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	6:134495755	0	A	134495755	G	A	134495755	3	1	88	1	0	0	0	0	1	0	0	0	14288	1160	40	1		1	SGK1	6	134495755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145457	134495755	36619312	7601	15313											
SGK1	6446	broad.mit.edu	37	chr6	134583014	134583014	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actctggcagaaatacaagaAaaacaaaggcccagaatttt	7	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:134583014A>C	ENST00000524929.1	-	2	510	c.342T>G	c.(340-342)ttT>ttG	p.F114L	SGK1_ENST00000367858.5_Intron			O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AAATACAAGAAAAACAAAGGC	0.368													False	0	True	6:134583014	0	C	134583014	A	C	134583014	3	2	88	1	0	0	0	0	1	0	0	0	14288	29	1	4		4	SGK1	6	134583014	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	87259	134583014	36532053	7602	15314											
ALDH8A1	64577	broad.mit.edu	37	chr6	135263570	135263570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaccggggcccgcaccGtgtagtgcatgcagcccagg	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135263570G>A	ENST00000265605.2	-	3	487	c.419C>T	c.(418-420)aCg>aTg	p.T140M	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T140M|RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T140M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	140					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.T140M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GGCCCGCACCGTGTAGTGCAT	0.582													False	0	False	6:135263570	0	A	135263570	G	A	135263570	3	1	88	1	0	0	0	0	1	0	0	0	505	1145	40	1	1064	1	ALDH8A1	6	135263570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	680556	135263570	35851497	7603	15315											
HBS1L	10767	broad.mit.edu	37	chr6	135287592	135287592	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagctctaccaatgcatTctggcctttagtcaaaaacc	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135287592T>G	ENST00000367837.5	-	17	2124	c.1918A>C	c.(1918-1920)Aat>Cat	p.N640H	HBS1L_ENST00000367826.2_Missense_Mutation_p.N598H|HBS1L_ENST00000415177.2_Missense_Mutation_p.N575H|HBS1L_ENST00000367824.4_Missense_Mutation_p.N476H|HBS1L_ENST00000527578.1_Missense_Mutation_p.N476H|HBS1L_ENST00000445176.2_Missense_Mutation_p.N364H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	640					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		ACCAATGCATTCTGGCCTTTA	0.328													False	0	False	6:135287592	0	G	135287592	T	G	135287592	3	3	88	1	0	0	0	0	1	0	0	0	7034	1783	62	4	144	4	HBS1L	6	135287592	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24022	135287592	35827475	7604	15316											
HBS1L	10767	broad.mit.edu	37	chr6	135306532	135306532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtcaatagatcgctggGgaggcttaaaggaatctgga	14	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135306532G>T	ENST00000367837.5	-	12	1645	c.1439C>A	c.(1438-1440)cCc>cAc	p.P480H	HBS1L_ENST00000367826.2_Missense_Mutation_p.P438H|HBS1L_ENST00000415177.2_Missense_Mutation_p.P415H|HBS1L_ENST00000367824.4_Missense_Mutation_p.P316H|HBS1L_ENST00000527578.1_Missense_Mutation_p.P316H|HBS1L_ENST00000445176.2_Missense_Mutation_p.P204H	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	480					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AGATCGCTGGGGAGGCTTAAA	0.353													False	0	True	6:135306532	0	T	135306532	G	T	135306532	3	4	88	1	0	0	0	0	1	0	0	0	7034	1232	43	3	643	3	HBS1L	6	135306532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18940	135306532	35808535	7605	15317											
HBS1L	10767	broad.mit.edu	37	chr6	135317999	135317999	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttttagactcctgttcatacTtatgcatagttcttttgttt	5	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135317999T>A	ENST00000367837.5	-	7	1087	c.881A>T	c.(880-882)aAg>aTg	p.K294M	HBS1L_ENST00000367826.2_Missense_Mutation_p.K252M|HBS1L_ENST00000415177.2_Missense_Mutation_p.K229M|HBS1L_ENST00000367824.4_Missense_Mutation_p.K130M|HBS1L_ENST00000527578.1_Missense_Mutation_p.K130M|HBS1L_ENST00000445176.2_Missense_Mutation_p.K18M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	294					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CTGTTCATACTTATGCATAGT	0.388													False	0	False	6:135317999	0	A	135317999	T	A	135317999	3	1	88	1	0	0	0	0	1	0	0	0	7034	1609	56	5	1221	5	HBS1L	6	135317999	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11467	135317999	35797068	7606	15318											
MYB	4602	broad.mit.edu	37	chr6	135518322	135518322	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaggcacagcacaattcCactggtcatccttcgaaaaa	7	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135518322C>A	ENST00000341911.5	+	10	1626	c.1427C>A	c.(1426-1428)cCa>cAa	p.P476Q	MYB_ENST00000527615.1_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.P460Q|MYB_ENST00000367814.4_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000534044.1_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.P473Q|MYB_ENST00000525369.1_Intron	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	449					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AGCACAATTCCACTGGTCATC	0.527			T	NFIB	adenoid cystic carcinoma								False	0	False	6:135518322	0	A	135518322	C	A	135518322	3	1	88	1	0	0	0	0	1	0	0	0	10074	594	21	3	1465	3	MYB	6	135518322	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200323	135518322	35596745	7607	15319											
MYB	4602	broad.mit.edu	37	chr6	135518382	135518382	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttagccactggagactgtaGctccttcatatttgctgacg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135518382G>T	ENST00000341911.5	+	10	1686	c.1487G>T	c.(1486-1488)aGc>aTc	p.S496I	MYB_ENST00000527615.1_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.S480I|MYB_ENST00000367814.4_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000534044.1_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.S493I|MYB_ENST00000525369.1_Intron	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	449					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGAGACTGTAGCTCCTTCATA	0.532			T	NFIB	adenoid cystic carcinoma								False	0	False	6:135518382	0	T	135518382	G	T	135518382	3	4	88	1	0	0	0	0	1	0	0	0	10074	971	34	3	1525	3	MYB	6	135518382	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	135518382	35596685	7608	15320											
AHI1	54806	broad.mit.edu	37	chr6	135763781	135763781	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatattcttccattgtgggaGaaatcaagacaaaaacatcc	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135763781G>T	ENST00000367800.4	-	12	2067	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	AHI1_ENST00000457866.2_Missense_Mutation_p.F617L|AHI1_ENST00000327035.6_Missense_Mutation_p.F617L|AHI1_ENST00000417892.2_5'UTR	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	617						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CATTGTGGGAGAAATCAAGAC	0.378													False	0	True	6:135763781	0	T	135763781	G	T	135763781	3	4	88	1	0	0	0	0	1	0	0	0	413	933	33	3	1860	3	AHI1	6	135763781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	245399	135763781	35351286	7609	15321											
AHI1	54806	broad.mit.edu	37	chr6	135778797	135778797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggataaaccgggctatctCggcttgttatttcatgaaca	10	8	2	1	rs139944375	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135778797C>T	ENST00000367800.4	-	7	1202	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	AHI1_ENST00000457866.2_Missense_Mutation_p.R329Q|AHI1_ENST00000327035.6_Missense_Mutation_p.R329Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	329						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CGGGCTATCTCGGCTTGTTAT	0.358													False	0	False	6:135778797	0	T	135778797	C	T	135778797	3	4	88	1	0	0	0	0	1	0	0	0	413	884	31	1	2745	1	AHI1	6	135778797	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15016	135778797	35336270	7610	15322											
PDE7B	27115	broad.mit.edu	37	chr6	136512832	136512832	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccctgtcggagaacatgCtgggccacctcgcacacaac	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136512832C>A	ENST00000308191.6	+	13	1510	c.1207C>A	c.(1207-1209)Ctg>Atg	p.L403M	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	403	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GGAGAACATGCTGGGCCACCT	0.612													False	0	False	6:136512832	0	A	136512832	C	A	136512832	3	1	88	1	0	0	0	0	1	0	0	0	11720	796	28	3	1257	3	PDE7B	6	136512832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	734035	136512832	34602235	7611	15323											
BCLAF1	9774	broad.mit.edu	37	chr6	136590614	136590614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtattccttgtaatcttttGgagttttttcctgctttctt	6	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136590614G>A	ENST00000531224.1	-	9	2432	c.2180C>T	c.(2179-2181)cCa>cTa	p.P727L	BCLAF1_ENST00000527759.1_Missense_Mutation_p.P725L|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P725L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P554L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P725L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P727L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	727					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTAATCTTTTGGAGTTTTTTC	0.383													False	0	True	6:136590614	0	A	136590614	G	A	136590614	3	1	88	1	0	0	0	0	1	0	0	0	1387	1348	47	2	602	2	BCLAF1	6	136590614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77782	136590614	34524453	7612	15324											
BCLAF1	9774	broad.mit.edu	37	chr6	136593153	136593153	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgattttcttctttaaAaactctctcttcccctgcta	2	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136593153A>C	ENST00000531224.1	-	8	2275	c.2023T>G	c.(2023-2025)Ttt>Gtt	p.F675V	BCLAF1_ENST00000527759.1_Missense_Mutation_p.F673V|BCLAF1_ENST00000353331.4_Missense_Mutation_p.F673V|BCLAF1_ENST00000530767.1_Missense_Mutation_p.F502V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.F673V|BCLAF1_ENST00000527536.1_Missense_Mutation_p.F675V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	675					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTCTTTAAAAACTCTCTCT	0.303													False	0	True	6:136593153	0	C	136593153	A	C	136593153	3	2	88	1	0	0	0	0	1	0	0	0	1387	14	1	4	763	4	BCLAF1	6	136593153	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2539	136593153	34521914	7613	15325											
BCLAF1	9774	broad.mit.edu	37	chr6	136597377	136597377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttcctcctcagtattcCggtgagatgcagtagcaaaa	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136597377C>T	ENST00000531224.1	-	5	1538	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R427Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R427Q|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R427Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R429Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	429					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTCAGTATTCCGGTGAGATGC	0.403													False	0	False	6:136597377	0	T	136597377	C	T	136597377	3	4	88	1	0	0	0	0	1	0	0	0	1387	652	23	1	1512	1	BCLAF1	6	136597377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4224	136597377	34517690	7614	15326											
MAP7	9053	broad.mit.edu	37	chr6	136693712	136693712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagttttggtcgatccatcGaatttctagagtgtgcagct	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136693712G>A	ENST00000354570.3	-	8	1213	c.803C>T	c.(802-804)tCg>tTg	p.S268L	MAP7_ENST00000432797.2_Missense_Mutation_p.S122L|MAP7_ENST00000454590.1_Missense_Mutation_p.S290L|MAP7_ENST00000544465.1_Missense_Mutation_p.S253L|MAP7_ENST00000438100.2_Missense_Mutation_p.S253L	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	268					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.S268L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCGATCCATCGAATTTCTAGA	0.512													False	0	False	6:136693712	0	A	136693712	G	A	136693712	3	1	88	1	0	0	0	0	1	0	0	0	9333	1059	37	1	1490	1	MAP7	6	136693712	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96335	136693712	34421355	7615	15327											
MAP7	9053	broad.mit.edu	37	chr6	136704889	136704889	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcaacatatttcgaaagaTtcatggtggaaactgaccgc	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136704889T>C	ENST00000354570.3	-	6	967	c.557A>G	c.(556-558)aAt>aGt	p.N186S	MAP7_ENST00000432797.2_Missense_Mutation_p.N40S|MAP7_ENST00000454590.1_Missense_Mutation_p.N208S|MAP7_ENST00000544465.1_Missense_Mutation_p.N171S|MAP7_ENST00000438100.2_Intron	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	186					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TTTCGAAAGATTCATGGTGGA	0.413													False	0	False	6:136704889	0	C	136704889	T	C	136704889	3	2	88	1	0	0	0	0	1	0	0	0	9333	1493	52	4	1744	4	MAP7	6	136704889	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11177	136704889	34410178	7616	15328											
PEX7	5191	broad.mit.edu	37	chr6	137191085	137191085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgggacttaaggaatGtacgacaaccagtgtttgaa	13	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137191085G>A	ENST00000541292.1	+	7	777	c.691G>A	c.(691-693)Gta>Ata	p.V231I	PEX7_ENST00000318471.4_Missense_Mutation_p.V231I			O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	231					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		CTTAAGGAATGTACGACAACC	0.363													False	0	False	6:137191085	0	A	137191085	G	A	137191085	3	1	88	1	0	0	0	0	1	0	0	0	11820	1377	48	2	717	2	PEX7	6	137191085	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	486196	137191085	33923982	7617	15329											
PEX7	5191	broad.mit.edu	37	chr6	137234651	137234651	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctatgaccctgcttgtcttaCtattcctgcttgagatacac	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137234651C>A	ENST00000318471.4	+	10	1040	c.959C>A	c.(958-960)aCt>aAt	p.T320N	PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	320					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GCTTGTCTTACTATTCCTGCT	0.358													False	0	False	6:137234651	0	A	137234651	C	A	137234651	3	1	88	1	0	0	0	0	1	0	0	0	11820	565	20	3	997	3	PEX7	6	137234651	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43566	137234651	33880416	7618	15330											
IL20RA	53832	broad.mit.edu	37	chr6	137329757	137329757	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaaagtcctggcacactGcttctcagaaggctgagcac	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137329757G>A	ENST00000367748.1	-	4	956	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	IL20RA_ENST00000316649.5_Nonsense_Mutation_p.Q235*|IL20RA_ENST00000541547.1_Nonsense_Mutation_p.Q186*|IL20RA_ENST00000468393.1_5'UTR	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	235	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGGCACACTGCTTCTCAGAA	0.517													False	0	False	6:137329757	0	A	137329757	G	A	137329757	4	1	88	1	0	0	0	0	0	1	0	0	7718	1328	46	2	970	2	IL20RA	6	137329757	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95106	137329757	33785310	7619	15331											
IFNGR1	3459	broad.mit.edu	37	chr6	137519427	137519427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttctggagtgatcactcTcagaacaatttctggagtga	9	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137519427T>C	ENST00000367739.4	-	7	1332	c.1211A>G	c.(1210-1212)gAg>gGg	p.E404G	IFNGR1_ENST00000543628.1_Missense_Mutation_p.E376G	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	404					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GTGATCACTCTCAGAACAATT	0.413													False	0	False	6:137519427	0	C	137519427	T	C	137519427	3	2	88	1	0	0	0	0	1	0	0	0	7599	1551	54	4	262	4	IFNGR1	6	137519427	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	189670	137519427	33595640	7620	15332											
OLIG3	167826	broad.mit.edu	37	chr6	137814750	137814750	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccagatgagagcgcgccGcccaagatggggtgcaccgg	16	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137814750G>A	ENST00000367734.2	-	1	781	c.558C>T	c.(556-558)ggC>ggT	p.G186G		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGAGCGCGCCGCCCAAGATGG	0.726													False	0	True	6:137814750	0	A	137814750	G	A	137814750	2	1	88	1	0	0	0	0	0	0	0	1	10930	1074	38	1		1	OLIG3	6	137814750	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	295323	137814750	33300317	7621	15333											
OLIG3	167826	broad.mit.edu	37	chr6	137814819	137814819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccggccgagtggcccacGgtcccgcagtgaaaggccga	16	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137814819G>A	ENST00000367734.2	-	1	712	c.489C>T	c.(487-489)acC>acT	p.T163T		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGTGGCCCACGGTCCCGCAGT	0.667													False	0	False	6:137814819	0	A	137814819	G	A	137814819	2	1	88	1	0	0	0	0	0	0	0	1	10930	1103	39	1		1	OLIG3	6	137814819	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	137814819	33300248	7622	15334											
OLIG3	167826	broad.mit.edu	37	chr6	137815078	137815078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgctgtaggtcctgctccGacagctgcttcttgattttg	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137815078G>A	ENST00000367734.2	-	1	453	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GTCCTGCTCCGACAGCTGCTT	0.602													False	0	False	6:137815078	0	A	137815078	G	A	137815078	3	1	88	1	0	0	0	0	1	0	0	0	10930	1059	37	1	592	1	OLIG3	6	137815078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	259	137815078	33299989	7623	15335											
OLIG3	167826	broad.mit.edu	37	chr6	137815239	137815239	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtggcggtggtggtggtcCctcaggtacatctcatccat	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137815239C>A	ENST00000367734.2	-	1	292	c.69G>T	c.(67-69)agG>agT	p.R23S		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ggtggtggtCCCTCAGGTACA	0.577													False	0	True	6:137815239	0	A	137815239	C	A	137815239	3	1	88	1	0	0	0	0	1	0	0	0	10930	622	22	3	753	3	OLIG3	6	137815239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161	137815239	33299828	7624	15336											
TNFAIP3	7128	broad.mit.edu	37	chr6	138200249	138200249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcctcagcaccagcctccCtccttcctgtcaccagcgtt	6	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138200249C>A	ENST00000237289.4	+	7	1733	c.1667C>A	c.(1666-1668)cCt>cAt	p.P556H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	556	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACCAGCCTCCCTCCTTCCTGT	0.602			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								False	0	True	6:138200249	0	A	138200249	C	A	138200249	3	1	88	1	0	0	0	0	1	0	0	0	16356	681	24	3	1689	3	TNFAIP3	6	138200249	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385010	138200249	32914818	7625	15337											
PERP	64065	broad.mit.edu	37	chr6	138417631	138417631	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgctgctctaccccacGctgcaagaaaaaaagaaaca	7	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138417631G>A	ENST00000421351.3	-	2	385	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	72					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TCTACCCCACGCTGCAAGAAA	0.443													False	0	False	6:138417631	0	A	138417631	G	A	138417631	5	1	88	1	0	0	0	0	0	0	1	0	11800	1101	38	1	374	1	PERP	6	138417631	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217382	138417631	32697436	7626	15338											
KIAA1244	57221	broad.mit.edu	37	chr6	138576683	138576683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggagtcggactctgCgtctccgggagtgtctgacc	14	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138576683C>T	ENST00000251691.4	+	10	1047	c.881C>T	c.(880-882)gCg>gTg	p.A294V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	294					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCGGACTCTGCGTCTCCGGGA	0.597													False	0	False	6:138576683	0	T	138576683	C	T	138576683	3	4	88	1	0	0	0	0	1	0	0	0	8267	768	27	1	919	1	KIAA1244	6	138576683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159052	138576683	32538384	7627	15339											
KIAA1244	57221	broad.mit.edu	37	chr6	138634943	138634943	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaatttagttattggccaaAatctacaaaatgcccttgaa	5	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138634943A>C	ENST00000251691.4	+	26	4378	c.4212A>C	c.(4210-4212)aaA>aaC	p.K1404N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1404					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TATTGGCCAAAATCTACAAAA	0.373													False	0	True	6:138634943	0	C	138634943	A	C	138634943	3	2	88	1	0	0	0	0	1	0	0	0	8267	11	1	4	4314	4	KIAA1244	6	138634943	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	58260	138634943	32480124	7628	15340											
KIAA1244	57221	broad.mit.edu	37	chr6	138655861	138655861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttctctgggaaagaaAccccttccgaggatgacaga	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138655861A>G	ENST00000251691.4	+	33	6044	c.5878A>G	c.(5878-5880)Acc>Gcc	p.T1960A		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1960					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGGAAAGAAACCCCTTCCGA	0.647													False	0	True	6:138655861	0	G	138655861	A	G	138655861	3	3	88	1	0	0	0	0	1	0	0	0	8267	43	2	4	6008	4	KIAA1244	6	138655861	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20918	138655861	32459206	7629	15341											
KIAA1244	57221	broad.mit.edu	37	chr6	138656299	138656299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagctccctcagtgtctcgGtgagagacgcagaagcacag	14	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138656299G>T	ENST00000251691.4	+	33	6482	c.6316G>T	c.(6316-6318)Gtg>Ttg	p.V2106L		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	2106					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGTGTCTCGGTGAGAGACGC	0.652													False	0	False	6:138656299	0	T	138656299	G	T	138656299	3	4	88	1	0	0	0	0	1	0	0	0	8267	1261	44	3	6446	3	KIAA1244	6	138656299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	438	138656299	32458768	7630	15342											
KIAA1244	57221	broad.mit.edu	37	chr6	138656314	138656314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggtgagagacgcagaaGcacagatccaggtacatccc	11	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138656314G>A	ENST00000251691.4	+	33	6497	c.6331G>A	c.(6331-6333)Gca>Aca	p.A2111T		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	2111					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGACGCAGAAGCACAGATCCA	0.647													False	0	False	6:138656314	0	A	138656314	G	A	138656314	3	1	88	1	0	0	0	0	1	0	0	0	8267	971	34	2	6461	2	KIAA1244	6	138656314	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	138656314	32458753	7631	15343											
CCDC28A	25901	broad.mit.edu	37	chr6	139097399	139097399	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcacagtcaacttcacagCgaccaaagttaaaaaggtga	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139097399C>T	ENST00000332797.6	+	2	567	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	138										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AACTTCACAGCGACCAAAGTT	0.358													False	0	False	6:139097399	0	T	139097399	C	T	139097399	4	4	88	1	0	0	0	0	0	1	0	0	2823	760	27	1	418	1	CCDC28A	6	139097399	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441085	139097399	32017668	7632	15344											
ECT2L	345930	broad.mit.edu	37	chr6	139186158	139186158	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgattggctgggatcccaAtggggaaaggccccctcttc	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139186158A>C	ENST00000423192.1	+	11	1478	c.1317A>C	c.(1315-1317)caA>caC	p.Q439H	ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.Q439H|ECT2L_ENST00000541398.1_Missense_Mutation_p.Q370H			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	439					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGATCCCAATGGGGAAAGG	0.428			"N, Splice, Mis"		ETP ALL								False	0	False	6:139186158	0	C	139186158	A	C	139186158	3	2	88	1	0	0	0	0	1	0	0	0	4932	98	4	4	1355	4	ECT2L	6	139186158	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	88759	139186158	31928909	7633	15345											
REPS1	85021	broad.mit.edu	37	chr6	139237004	139237004	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagcccctacctgtggtgaCtgtaaaggtccgattcatat	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139237004C>A	ENST00000450536.2	-	14	2285	c.1711G>T	c.(1711-1713)Gtc>Ttc	p.V571F	REPS1_ENST00000367663.4_Missense_Mutation_p.V544F|REPS1_ENST00000258062.5_Missense_Mutation_p.V570F|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000415951.2_Missense_Mutation_p.V544F			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	571	Pro-rich.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CCTGTGGTGACTGTAAAGGTC	0.398													False	0	False	6:139237004	0	A	139237004	C	A	139237004	3	1	88	1	0	0	0	0	1	0	0	0	13307	565	20	3	707	3	REPS1	6	139237004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50846	139237004	31878063	7634	15346											
REPS1	85021	broad.mit.edu	37	chr6	139242254	139242254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggaactggatgaacaataGcagtatcctagagacaaatg	11	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139242254G>T	ENST00000450536.2	-	11	1920	c.1346C>A	c.(1345-1347)gCt>gAt	p.A449D	REPS1_ENST00000367663.4_Missense_Mutation_p.A422D|REPS1_ENST00000258062.5_Missense_Mutation_p.A449D|REPS1_ENST00000409812.2_Missense_Mutation_p.A422D|REPS1_ENST00000415951.2_Missense_Mutation_p.A422D			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	449						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATGAACAATAGCAGTATCCTA	0.383													False	0	False	6:139242254	0	T	139242254	G	T	139242254	3	4	88	1	0	0	0	0	1	0	0	0	13307	971	34	3	1084	3	REPS1	6	139242254	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5250	139242254	31872813	7635	15347											
REPS1	85021	broad.mit.edu	37	chr6	139265101	139265101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataactactggattgcctacGaatttcaatggcagttgtag	9	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139265101G>A	ENST00000450536.2	-	6	1379	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	REPS1_ENST00000367663.4_Missense_Mutation_p.R269C|REPS1_ENST00000258062.5_Missense_Mutation_p.R269C|REPS1_ENST00000409812.2_Missense_Mutation_p.R269C|REPS1_ENST00000415951.2_Missense_Mutation_p.R269C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	269						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GATTGCCTACGAATTTCAATG	0.363													False	0	False	6:139265101	0	A	139265101	G	A	139265101	3	1	88	1	0	0	0	0	1	0	0	0	13307	1058	37	1	1645	1	REPS1	6	139265101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22847	139265101	31849966	7636	15348											
HECA	51696	broad.mit.edu	37	chr6	139498117	139498117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtgggaagccggtgatcGacgtgaggatcgggatgcag	18	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139498117G>A	ENST00000367658.2	+	4	1792	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	503					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GCCGGTGATCGACGTGAGGAT	0.547													False	0	False	6:139498117	0	A	139498117	G	A	139498117	3	1	88	1	0	0	0	0	1	0	0	0	7085	1058	37	1	1521	1	HECA	6	139498117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233016	139498117	31616950	7637	15349											
TXLNB	167838	broad.mit.edu	37	chr6	139563819	139563819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttctgctgcgcatgcTggagcaggcacatctgcctc	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139563819T>C	ENST00000358430.3	-	10	2131	c.1899A>G	c.(1897-1899)ccA>ccG	p.P633P	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	633						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTGCGCATGCTGGAGCAGGCA	0.647													False	0	False	6:139563819	0	C	139563819	T	C	139563819	2	2	88	1	0	0	0	0	0	0	0	1	16872	1567	55	4		4	TXLNB	6	139563819	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65702	139563819	31551248	7638	15350											
TXLNB	167838	broad.mit.edu	37	chr6	139564024	139564024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcactgcctccttcgGcttcagcctgaggagttagg	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139564024G>A	ENST00000358430.3	-	10	1926	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	565						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCCTCCTTCGGCTTCAGCCTG	0.602													False	0	False	6:139564024	0	A	139564024	G	A	139564024	3	1	88	1	0	0	0	0	1	0	0	0	16872	1203	42	2	364	2	TXLNB	6	139564024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205	139564024	31551043	7639	15351											
TXLNB	167838	broad.mit.edu	37	chr6	139598041	139598041	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgttcagattttgcattaGcaggttggcttctttgcctt	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139598041G>T	ENST00000358430.3	-	3	674	c.442C>A	c.(442-444)Cta>Ata	p.L148I	RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	148						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTTTGCATTAGCAGGTTGGCT	0.353													False	0	False	6:139598041	0	T	139598041	G	T	139598041	3	4	88	1	0	0	0	0	1	0	0	0	16872	962	34	3	1644	3	TXLNB	6	139598041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34017	139598041	31517026	7640	15352											
CITED2	10370	broad.mit.edu	37	chr6	139694740	139694740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgagcttctgcagctgCatgctggccggcagggagcc	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139694740C>T	ENST00000367651.2	-	2	557	c.342G>A	c.(340-342)atG>atA	p.M114I	CITED2_ENST00000537332.1_Missense_Mutation_p.M114I|CITED2_ENST00000536159.1_Missense_Mutation_p.M114I	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	114					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TCTGCAGCTGCATGCTGGCCG	0.642													False	0	False	6:139694740	0	T	139694740	C	T	139694740	3	4	88	1	0	0	0	0	1	0	0	0	3463	710	25	2	474	2	CITED2	6	139694740	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96699	139694740	31420327	7641	15353											
CITED2	10370	broad.mit.edu	37	chr6	139695019	139695019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggtgggcagggtgatgGtgcagcccattggtgccgtc	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139695019G>A	ENST00000367651.2	-	2	278	c.63C>T	c.(61-63)caC>caT	p.H21H	CITED2_ENST00000537332.1_Silent_p.H21H|CITED2_ENST00000536159.1_Silent_p.H21H	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	21	His-rich.				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CAGGGTGATGGTGCAGCCCAT	0.622													False	0	False	6:139695019	0	A	139695019	G	A	139695019	2	1	88	1	0	0	0	0	0	0	0	1	3463	1252	44	2		2	CITED2	6	139695019	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	279	139695019	31420048	7642	15354											
NMBR	4829	broad.mit.edu	37	chr6	142396962	142396962	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttggctgttgaaatgcctCctgaagctttcactgagtag	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142396962C>T	ENST00000258042.1	-	3	1136	c.996G>A	c.(994-996)agG>agA	p.R332R	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	332					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TGAAATGCCTCCTGAAGCTTT	0.488													False	0	False	6:142396962	0	T	142396962	C	T	142396962	2	4	88	1	0	0	0	0	0	0	0	1	10555	854	30	2		2	NMBR	6	142396962	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2701943	142396962	28718105	7643	15355											
NMBR	4829	broad.mit.edu	37	chr6	142409766	142409766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattcgcgccggtggtcacCgagaggttggaaagagactt	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142409766C>T	ENST00000258042.1	-	1	170	c.30G>A	c.(28-30)tcG>tcA	p.S10S	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	10					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGGTGGTCACCGAGAGGTTGG	0.617													False	0	False	6:142409766	0	T	142409766	C	T	142409766	2	4	88	1	0	0	0	0	0	0	0	1	10555	639	23	1		1	NMBR	6	142409766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12804	142409766	28705301	7644	15356											
HIVEP2	3097	broad.mit.edu	37	chr6	143074447	143074447	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtggctgaggtacaggGctgacctggctcaggtctac	17	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143074447G>T	ENST00000367603.2	-	10	7880	c.7138C>A	c.(7138-7140)Ccc>Acc	p.P2380T	HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2380T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2380T|RP1-67K17.3_ENST00000437067.1_RNA	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGGTACAGGGCTGACCTGGC	0.542													False	0	True	6:143074447	0	T	143074447	G	T	143074447	3	4	88	1	0	0	0	0	1	0	0	0	7234	1203	42	3	206	3	HIVEP2	6	143074447	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	664681	143074447	28040620	7645	15357											
HIVEP2	3097	broad.mit.edu	37	chr6	143081626	143081626	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaggactggtgcttctTgatcttgtttttggtgttaa	13	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143081626T>C	ENST00000367603.2	-	9	6541	c.5799A>G	c.(5797-5799)tcA>tcG	p.S1933S	HIVEP2_ENST00000367604.1_Silent_p.S1933S|HIVEP2_ENST00000012134.2_Silent_p.S1933S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1933					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGTGCTTCTTGATCTTGTTT	0.473													False	0	False	6:143081626	0	C	143081626	T	C	143081626	2	2	88	1	0	0	0	0	0	0	0	1	7234	1799	63	4		4	HIVEP2	6	143081626	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7179	143081626	28033441	7646	15358											
HIVEP2	3097	broad.mit.edu	37	chr6	143082630	143082630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtttctgtatcatccaccGatgtcattgagactcccaat	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143082630G>A	ENST00000367603.2	-	8	6333	c.5591C>T	c.(5590-5592)tCg>tTg	p.S1864L	HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1864L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1864L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1864					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATCATCCACCGATGTCATTGA	0.403													False	0	False	6:143082630	0	A	143082630	G	A	143082630	3	1	88	1	0	0	0	0	1	0	0	0	7234	1059	37	1	1761	1	HIVEP2	6	143082630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1004	143082630	28032437	7647	15359											
HIVEP2	3097	broad.mit.edu	37	chr6	143094707	143094707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcttcctttactgtgcGggctcagaaggttgagcgat	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143094707G>A	ENST00000367603.2	-	5	1911	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	HIVEP2_ENST00000367604.1_Missense_Mutation_p.P390L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P390L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P390Q(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTTACTGTGCGGGCTCAGAAG	0.443													False	0	True	6:143094707	0	A	143094707	G	A	143094707	3	1	88	1	0	0	0	0	1	0	0	0	7234	1116	39	1	6195	1	HIVEP2	6	143094707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12077	143094707	28020360	7648	15360											
ADAT2	134637	broad.mit.edu	37	chr6	143753712	143753712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagccacaaccaccaaatCgttcattctgacagccatat	5	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143753712C>T	ENST00000606514.1	-	4	832	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	ADAT2_ENST00000237283.8_Missense_Mutation_p.R130Q			Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	130					tRNA processing		hydrolase activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		ACCACCAAATCGTTCATTCTG	0.393													False	0	False	6:143753712	0	T	143753712	C	T	143753712	3	4	88	1	0	0	0	0	1	0	0	0	285	884	31	1	198	1	ADAT2	6	143753712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	659005	143753712	27361355	7649	15361											
PEX3	8504	broad.mit.edu	37	chr6	143780343	143780343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtaaccagaggacttgCaatatgacaggtaagacaga	11	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143780343C>T	ENST00000367591.4	+	2	258	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	65					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AGAGGACTTGCAATATGACAG	0.378													False	0	False	6:143780343	0	T	143780343	C	T	143780343	2	4	88	1	0	0	0	0	0	0	0	1	11816	718	25	2		2	PEX3	6	143780343	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26631	143780343	27334724	7650	15362											
PHACTR2	9749	broad.mit.edu	37	chr6	144086760	144086760	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctggccccccctctccctCttgaggatcagtgcattact	7	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144086760C>A	ENST00000427704.2	+	6	1154	c.1024C>A	c.(1024-1026)Ctt>Att	p.L342I	PHACTR2_ENST00000305766.6_Missense_Mutation_p.L262I|PHACTR2_ENST00000367582.3_Missense_Mutation_p.L273I|PHACTR2_ENST00000367584.4_Missense_Mutation_p.L330I|PHACTR2_ENST00000440869.2_Missense_Mutation_p.L353I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	342							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CCCTCTCCCTCTTGAGGATCA	0.582													False	0	False	6:144086760	0	A	144086760	C	A	144086760	3	1	88	1	0	0	0	0	1	0	0	0	11879	913	32	3	1096	3	PHACTR2	6	144086760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	306417	144086760	27028307	7651	15363											
PHACTR2	9749	broad.mit.edu	37	chr6	144086912	144086912	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactcaggcactggcttaagTgttaacagagaaaatgcaaa	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144086912T>C	ENST00000427704.2	+	6	1306	c.1176T>C	c.(1174-1176)agT>agC	p.S392S	PHACTR2_ENST00000305766.6_Silent_p.S312S|PHACTR2_ENST00000367582.3_Silent_p.S323S|PHACTR2_ENST00000367584.4_Silent_p.S380S|PHACTR2_ENST00000440869.2_Silent_p.S403S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	392							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTGGCTTAAGTGTTAACAGAG	0.458													False	0	False	6:144086912	0	C	144086912	T	C	144086912	2	2	88	1	0	0	0	0	0	0	0	1	11879	1693	59	4		4	PHACTR2	6	144086912	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	152	144086912	27028155	7652	15364											
PLAGL1	5325	broad.mit.edu	37	chr6	144263408	144263408	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaactggcacaggaagtccTtgcatcctgtgtggaccacc	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144263408T>G	ENST00000360537.2	-	5	2458	c.545A>C	c.(544-546)aAg>aCg	p.K182T	PLAGL1_ENST00000354765.2_Missense_Mutation_p.K182T|PLAGL1_ENST00000367572.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000392309.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000416623.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000444202.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000437412.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000367571.1_Missense_Mutation_p.K182T|PLAGL1_ENST00000392307.1_Missense_Mutation_p.K130T|PLAGL1_ENST00000429150.1_Missense_Mutation_p.K182T			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	182					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CAGGAAGTCCTTGCATCCTGT	0.557											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	6:144263408	0	G	144263408	T	G	144263408	3	3	88	1	0	0	0	0	1	0	0	0	12088	1609	56	4	850	4	PLAGL1	6	144263408	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176496	144263408	26851659	7653	15365											
PLAGL1	5325	broad.mit.edu	37	chr6	144263595	144263595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacagaccccacaggtgaGgtccccactgctggccgcat	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144263595G>A	ENST00000360537.2	-	5	2271	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	PLAGL1_ENST00000354765.2_Missense_Mutation_p.L120F|PLAGL1_ENST00000367572.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000392309.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000416623.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000444202.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000437412.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000367571.1_Missense_Mutation_p.L120F|PLAGL1_ENST00000392307.1_Missense_Mutation_p.L68F|PLAGL1_ENST00000429150.1_Missense_Mutation_p.L120F			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	120					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CCACAGGTGAGGTCCCCACTG	0.597											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	6:144263595	0	A	144263595	G	A	144263595	3	1	88	1	0	0	0	0	1	0	0	0	12088	1000	35	2	1037	2	PLAGL1	6	144263595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187	144263595	26851472	7654	15366											
SF3B5	83443	broad.mit.edu	37	chr6	144416556	144416556	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccagccactcccacttggTggtgtcggcgtggcccgtgc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144416556T>C	ENST00000367569.2	-	1	198	c.79A>G	c.(79-81)Acc>Gcc	p.T27A		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	27					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		TCCCACTTGGTGGTGTCGGCG	0.592													False	0	False	6:144416556	0	C	144416556	T	C	144416556	3	2	88	1	0	0	0	0	1	0	0	0	14235	1696	59	4	185	4	SF3B5	6	144416556	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	152961	144416556	26698511	7655	15367											
STX11	8676	broad.mit.edu	37	chr6	144508031	144508031	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcgcgacaccaactccatCgccaaggccatcaaggcccg	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144508031C>T	ENST00000367568.4	+	2	450	c.267C>T	c.(265-267)atC>atT	p.I89I		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	89					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CCAACTCCATCGCCAAGGCCA	0.677									Familial Hemophagocytic Lymphohistiocytosis				False	0	False	6:144508031	0	T	144508031	C	T	144508031	2	4	88	1	0	0	0	0	0	0	0	1	15419	874	31	1		1	STX11	6	144508031	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91475	144508031	26607036	7656	15368											
UTRN	7402	broad.mit.edu	37	chr6	144758737	144758737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgcacaccagagcagtGtgggcagcgtcctgcaggca	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144758737G>A	ENST00000367545.3	+	10	1096	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	366	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCAGAGCAGTGTGGGCAGCGT	0.443													False	0	False	6:144758737	0	A	144758737	G	A	144758737	3	1	88	1	0	0	0	0	1	0	0	0	17187	1377	48	2	1134	2	UTRN	6	144758737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	250706	144758737	26356330	7657	15369											
UTRN	7402	broad.mit.edu	37	chr6	144758755	144758755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgggcagcgtcctgcagGcaggcaaccaactgataaca	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144758755G>A	ENST00000367545.3	+	10	1114	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	372	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CGTCCTGCAGGCAGGCAACCA	0.463													False	0	True	6:144758755	0	A	144758755	G	A	144758755	3	1	88	1	0	0	0	0	1	0	0	0	17187	1203	42	2	1152	2	UTRN	6	144758755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	144758755	26356312	7658	15370											
UTRN	7402	broad.mit.edu	37	chr6	144768443	144768443	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaactaagtgtcagtgttCgacgtctggctgtaagtgat	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144768443C>T	ENST00000367545.3	+	14	1711	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	571	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.R571*(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTCAGTGTTCGACGTCTGGC	0.383													False	0	False	6:144768443	0	T	144768443	C	T	144768443	4	4	88	1	0	0	0	0	0	1	0	0	17187	876	31	1	1765	1	UTRN	6	144768443	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9688	144768443	26346624	7659	15371											
UTRN	7402	broad.mit.edu	37	chr6	144780066	144780066	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagcttgaaaaggtcatcaaGacaaaggaggagtgggtaaa	14	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144780066G>A	ENST00000367545.3	+	19	2445	c.2445G>A	c.(2443-2445)aaG>aaA	p.K815K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	815	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGGTCATCAAGACAAAGGAGG	0.423													False	0	False	6:144780066	0	A	144780066	G	A	144780066	2	1	88	1	0	0	0	0	0	0	0	1	17187	933	33	2		2	UTRN	6	144780066	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11623	144780066	26335001	7660	15372											
UTRN	7402	broad.mit.edu	37	chr6	145075930	145075930	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccatcctctcagcattttctCtctagtaagtactaataaac	3	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:145075930C>A	ENST00000367545.3	+	56	8430	c.8430C>A	c.(8428-8430)ctC>ctA	p.L2810L	UTRN_ENST00000367526.4_Silent_p.L365L|UTRN_ENST00000480333.1_3'UTR	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2810	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGCATTTTCTCTCTAGTAAGT	0.383													False	0	True	6:145075930	0	A	145075930	C	A	145075930	2	1	88	1	0	0	0	0	0	0	0	1	17187	900	32	3		3	UTRN	6	145075930	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295864	145075930	26039137	7661	15373											
FBXO30	84085	broad.mit.edu	37	chr6	146126966	146126966	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatccaaagcagcagccaaActtctggttgtttctacagt	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146126966A>C	ENST00000237281.4	-	2	742	c.576T>G	c.(574-576)agT>agG	p.S192R		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	192							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CAGCAGCCAAACTTCTGGTTG	0.398													False	0	True	6:146126966	0	C	146126966	A	C	146126966	3	2	88	1	0	0	0	0	1	0	0	0	5780	40	2	4	1669	4	FBXO30	6	146126966	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1051036	146126966	24988101	7662	15374											
SHPRH	257218	broad.mit.edu	37	chr6	146214385	146214385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtgcaccctccctatggCctgaagctcatgggcagggt	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146214385C>T	ENST00000367503.3	-	28	5250	c.4852G>A	c.(4852-4854)Gcc>Acc	p.A1618T	SHPRH_ENST00000275233.7_Missense_Mutation_p.A1614T|SHPRH_ENST00000438092.2_Missense_Mutation_p.A1618T|SHPRH_ENST00000367505.2_Missense_Mutation_p.A1614T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1614	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTCCCTATGGCCTGAAGCTCA	0.438													False	0	False	6:146214385	0	T	146214385	C	T	146214385	3	4	88	1	0	0	0	0	1	0	0	0	14372	739	26	2	240	2	SHPRH	6	146214385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87419	146214385	24900682	7663	15375											
SHPRH	257218	broad.mit.edu	37	chr6	146214434	146214434	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctccaccaagagaacatgAgttgcttcaatgatagttaa	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146214434A>G	ENST00000367503.3	-	28	5201	c.4803T>C	c.(4801-4803)acT>acC	p.T1601T	SHPRH_ENST00000275233.7_Silent_p.T1597T|SHPRH_ENST00000438092.2_Silent_p.T1601T|SHPRH_ENST00000367505.2_Silent_p.T1597T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1597	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AGAGAACATGAGTTGCTTCAA	0.443													False	0	False	6:146214434	0	G	146214434	A	G	146214434	2	3	88	1	0	0	0	0	0	0	0	1	14372	291	11	4		4	SHPRH	6	146214434	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49	146214434	24900633	7664	15376											
SHPRH	257218	broad.mit.edu	37	chr6	146264761	146264761	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatggttgactttttccttTttttgtggatggaacaagct	9	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146264761T>G	ENST00000367503.3	-	9	2154	c.1756A>C	c.(1756-1758)Aaa>Caa	p.K586Q	SHPRH_ENST00000275233.7_Missense_Mutation_p.K586Q|SHPRH_ENST00000438092.2_Missense_Mutation_p.K586Q|SHPRH_ENST00000367505.2_Missense_Mutation_p.K586Q	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	586					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTTTTCCTTTTTTTGTGGAT	0.373													False	0	True	6:146264761	0	G	146264761	T	G	146264761	3	3	88	1	0	0	0	0	1	0	0	0	14372	1850	64	4	3427	4	SHPRH	6	146264761	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50327	146264761	24850306	7665	15377											
SHPRH	257218	broad.mit.edu	37	chr6	146275891	146275891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcttcttttgtagccaccCcaaatcttctaacatttcac	2	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146275891C>A	ENST00000367503.3	-	2	966	c.568G>T	c.(568-570)Ggg>Tgg	p.G190W	SHPRH_ENST00000275233.7_Missense_Mutation_p.G190W|SHPRH_ENST00000438092.2_Missense_Mutation_p.G190W|SHPRH_ENST00000367505.2_Missense_Mutation_p.G190W	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	190					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGTAGCCACCCCAAATCTTCT	0.378													False	0	True	6:146275891	0	A	146275891	C	A	146275891	3	1	88	1	0	0	0	0	1	0	0	0	14372	623	22	3	4643	3	SHPRH	6	146275891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11130	146275891	24839176	7666	15378											
GRM1	2911	broad.mit.edu	37	chr6	146350781	146350781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctcggtggccagaatggacgGagatgtcatcattggagccc	14	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146350781G>T	ENST00000392299.2	+	2	598	c.128G>T	c.(127-129)gGa>gTa	p.G43V	GRM1_ENST00000492807.2_Missense_Mutation_p.G43V|GRM1_ENST00000355289.4_Missense_Mutation_p.G43V|GRM1_ENST00000361719.2_Missense_Mutation_p.G43V|GRM1_ENST00000507907.1_Missense_Mutation_p.G43V|GRM1_ENST00000282753.1_Missense_Mutation_p.G43V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	43					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGAATGGACGGAGATGTCATC	0.597													False	0	False	6:146350781	0	T	146350781	G	T	146350781	3	4	88	1	0	0	0	0	1	0	0	0	6843	1174	41	3	130	3	GRM1	6	146350781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74890	146350781	24764286	7667	15379											
GRM1	2911	broad.mit.edu	37	chr6	146625805	146625805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggtggaagccaacgggGgaatcacgataaagctgcag	15	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146625805G>A	ENST00000392299.2	+	4	1479	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	GRM1_ENST00000492807.2_Missense_Mutation_p.G337R|GRM1_ENST00000355289.4_Missense_Mutation_p.G337R|GRM1_ENST00000361719.2_Missense_Mutation_p.G337R|GRM1_ENST00000507907.1_Missense_Mutation_p.G337R|GRM1_ENST00000282753.1_Missense_Mutation_p.G337R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	337					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGCCAACGGGGGAATCACGAT	0.473													False	0	True	6:146625805	0	A	146625805	G	A	146625805	3	1	88	1	0	0	0	0	1	0	0	0	6843	1233	43	2	1019	2	GRM1	6	146625805	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275024	146625805	24489262	7668	15380											
GRM1	2911	broad.mit.edu	37	chr6	146678707	146678707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaagctaatcgctatgaCtatgtgcacgttggaacctg	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146678707C>T	ENST00000392299.2	+	6	1949	c.1479C>T	c.(1477-1479)gaC>gaT	p.D493D	GRM1_ENST00000492807.2_Silent_p.D493D|GRM1_ENST00000355289.4_Silent_p.D493D|GRM1_ENST00000361719.2_Silent_p.D493D|GRM1_ENST00000507907.1_Silent_p.D493D|GRM1_ENST00000282753.1_Silent_p.D493D			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	493					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATCGCTATGACTATGTGCACG	0.413													False	0	False	6:146678707	0	T	146678707	C	T	146678707	2	4	88	1	0	0	0	0	0	0	0	1	6843	564	20	2		2	GRM1	6	146678707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52902	146678707	24436360	7669	15381											
GRM1	2911	broad.mit.edu	37	chr6	146720739	146720739	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccttcaccacctctgatgTtgtccgcatgcatgttggcg	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146720739T>G	ENST00000392299.2	+	8	3034	c.2564T>G	c.(2563-2565)gTt>gGt	p.V855G	GRM1_ENST00000492807.2_Missense_Mutation_p.V855G|GRM1_ENST00000355289.4_Missense_Mutation_p.V855G|GRM1_ENST00000361719.2_Missense_Mutation_p.V855G|GRM1_ENST00000507907.1_Missense_Mutation_p.V855G|GRM1_ENST00000282753.1_Missense_Mutation_p.V855G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	855					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACCTCTGATGTTGTCCGCATG	0.532													False	0	False	6:146720739	0	G	146720739	T	G	146720739	3	3	88	1	0	0	0	0	1	0	0	0	6843	1725	60	4	2590	4	GRM1	6	146720739	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42032	146720739	24394328	7670	15382											
GRM1	2911	broad.mit.edu	37	chr6	146720792	146720792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccgctccaacactttcCtcaacatcttccgaagaaag	5	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146720792C>T	ENST00000392299.2	+	8	3087	c.2617C>T	c.(2617-2619)Ctc>Ttc	p.L873F	GRM1_ENST00000492807.2_Missense_Mutation_p.L873F|GRM1_ENST00000355289.4_Missense_Mutation_p.L873F|GRM1_ENST00000361719.2_Missense_Mutation_p.L873F|GRM1_ENST00000507907.1_Missense_Mutation_p.L873F|GRM1_ENST00000282753.1_Missense_Mutation_p.L873F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	873					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAACACTTTCCTCAACATCTT	0.517													False	0	False	6:146720792	0	T	146720792	C	T	146720792	3	4	88	1	0	0	0	0	1	0	0	0	6843	681	24	2	2643	2	GRM1	6	146720792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53	146720792	24394275	7671	15383											
RAB32	10981	broad.mit.edu	37	chr6	146865053	146865053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcctgggggcggccgccGccccagcgcccgagacccgc	16	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146865053G>A	ENST00000367495.3	+	1	225	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	16					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		ggcggccgccgccccagcgcc	0.741													False	0	True	6:146865053	0	A	146865053	G	A	146865053	3	1	88	1	0	0	0	0	1	0	0	0	13000	1087	38	1	48	1	RAB32	6	146865053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144261	146865053	24250014	7672	15384											
STXBP5	0	broad.mit.edu	37	chr6	147560343	147560343	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggctgatgacaccttacActtatggaatttacgtcaga	8	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147560343A>G	ENST00000367481.3	+	4	476	c.368A>G	c.(367-369)cAc>cGc	p.H123R	STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000321680.6_Missense_Mutation_p.H123R|STXBP5_ENST00000367480.3_Missense_Mutation_p.H123R|STXBP5_ENST00000546097.1_Missense_Mutation_p.H123R	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	123					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GACACCTTACACTTATGGAAT	0.348													False	0	False	6:147560343	0	G	147560343	A	G	147560343	3	3	88	1	0	0	0	0	1	0	0	0	15438	159	6	4	382	4	STXBP5	6	147560343	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	695290	147560343	23554724	7673	15385											
STXBP5	0	broad.mit.edu	37	chr6	147581831	147581831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatatacatattgtcaatgTggagtccttcacactctcag	6	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147581831T>C	ENST00000367481.3	+	5	620	c.512T>C	c.(511-513)gTg>gCg	p.V171A	STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000321680.6_Missense_Mutation_p.V171A|STXBP5_ENST00000367480.3_Missense_Mutation_p.V171A|STXBP5_ENST00000546097.1_Missense_Mutation_p.V171A	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	171					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATTGTCAATGTGGAGTCCTTC	0.383													False	0	False	6:147581831	0	C	147581831	T	C	147581831	3	2	88	1	0	0	0	0	1	0	0	0	15438	1696	59	4	530	4	STXBP5	6	147581831	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21488	147581831	23533236	7674	15386											
STXBP5	0	broad.mit.edu	37	chr6	147632647	147632647	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaaggatttagtacttataGaccttgcacaaaatgggtaa	8	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147632647G>A	ENST00000367481.3	+	11	1237	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	STXBP5_ENST00000179882.6_Missense_Mutation_p.D48N|STXBP5_ENST00000321680.6_Missense_Mutation_p.D377N|STXBP5_ENST00000367480.3_Missense_Mutation_p.D377N	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	377					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGTACTTATAGACCTTGCACA	0.313													False	0	False	6:147632647	0	A	147632647	G	A	147632647	3	1	88	1	0	0	0	0	1	0	0	0	15438	942	33	2	1171	2	STXBP5	6	147632647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50816	147632647	23482420	7675	15387											
STXBP5	0	broad.mit.edu	37	chr6	147636794	147636794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtccagaaagtagaatgCtgtgcatcgctggagtttca	13	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147636794C>A	ENST00000367481.3	+	15	1654	c.1546C>A	c.(1546-1548)Ctg>Atg	p.L516M	STXBP5_ENST00000179882.6_Missense_Mutation_p.L187M|STXBP5_ENST00000321680.6_Missense_Mutation_p.L516M|STXBP5_ENST00000367480.3_Missense_Mutation_p.L516M	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	516					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AAGTAGAATGCTGTGCATCGC	0.388													False	0	False	6:147636794	0	A	147636794	C	A	147636794	3	1	88	1	0	0	0	0	1	0	0	0	15438	796	28	3	1604	3	STXBP5	6	147636794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4147	147636794	23478273	7676	15388											
STXBP5	0	broad.mit.edu	37	chr6	147680400	147680400	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagtgcttgtcattgcacTgaaccttcccccagggggag	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147680400T>C	ENST00000367481.3	+	21	2486	c.2378T>C	c.(2377-2379)cTg>cCg	p.L793P	STXBP5_ENST00000179882.6_Missense_Mutation_p.L484P|STXBP5_ENST00000321680.6_Missense_Mutation_p.L829P|STXBP5_ENST00000367480.3_Missense_Mutation_p.L776P	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	829					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTCATTGCACTGAACCTTCCC	0.483													False	0	False	6:147680400	0	C	147680400	T	C	147680400	3	2	88	1	0	0	0	0	1	0	0	0	15438	1580	55	4	2576	4	STXBP5	6	147680400	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43606	147680400	23434667	7677	15389											
STXBP5	0	broad.mit.edu	37	chr6	147684474	147684474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacttctatattttaggtaCtatattgaggttaaaaggtg	9	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147684474C>T	ENST00000367481.3	+	22	2549	c.2441C>T	c.(2440-2442)aCt>aTt	p.T814I	STXBP5_ENST00000179882.6_Missense_Mutation_p.T505I|STXBP5_ENST00000321680.6_Missense_Mutation_p.T850I|STXBP5_ENST00000367480.3_Missense_Mutation_p.T797I	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	850					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATTTTAGGTACTATATTGAGG	0.333													False	0	False	6:147684474	0	T	147684474	C	T	147684474	3	4	88	1	0	0	0	0	1	0	0	0	15438	565	20	2	2643	2	STXBP5	6	147684474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4074	147684474	23430593	7678	15390											
STXBP5	0	broad.mit.edu	37	chr6	147694892	147694892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgggtgaactcttcactcCtgtagaaacacctgaagcac	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147694892C>T	ENST00000367481.3	+	24	3107	c.2999C>T	c.(2998-3000)cCt>cTt	p.P1000L	STXBP5_ENST00000179882.6_Missense_Mutation_p.P691L|STXBP5_ENST00000321680.6_Missense_Mutation_p.P1036L|STXBP5_ENST00000367480.3_Missense_Mutation_p.P983L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1036					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CTCTTCACTCCTGTAGAAACA	0.353													False	0	False	6:147694892	0	T	147694892	C	T	147694892	3	4	88	1	0	0	0	0	1	0	0	0	15438	681	24	2	3209	2	STXBP5	6	147694892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10418	147694892	23420175	7679	15391											
SASH1	23328	broad.mit.edu	37	chr6	148808758	148808758	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgttacagctcaaggaAtacgaggcccagcaccggca	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148808758A>G	ENST00000367467.3	+	8	1111	c.636A>G	c.(634-636)gaA>gaG	p.E212E		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	212							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGCTCAAGGAATACGAGGCCC	0.483													False	0	False	6:148808758	0	G	148808758	A	G	148808758	2	3	88	1	0	0	0	0	0	0	0	1	13928	98	4	4		4	SASH1	6	148808758	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1113866	148808758	22306309	7680	15392											
SASH1	23328	broad.mit.edu	37	chr6	148852683	148852683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcgggccttgatggaatgCctggctcccctccgccttca	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148852683C>A	ENST00000367467.3	+	13	1925	c.1450C>A	c.(1450-1452)Cct>Act	p.P484T		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	484							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGATGGAATGCCTGGCTCCCC	0.537													False	0	False	6:148852683	0	A	148852683	C	A	148852683	3	1	88	1	0	0	0	0	1	0	0	0	13928	739	26	3	1500	3	SASH1	6	148852683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43925	148852683	22262384	7681	15393											
SASH1	23328	broad.mit.edu	37	chr6	148852764	148852764	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgggggttctgtagaaagtCttcgcagttctctcagtggg	14	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148852764C>A	ENST00000367467.3	+	13	2006	c.1531C>A	c.(1531-1533)Ctt>Att	p.L511I		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	511							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGTAGAAAGTCTTCGCAGTTC	0.512													False	0	False	6:148852764	0	A	148852764	C	A	148852764	3	1	88	1	0	0	0	0	1	0	0	0	13928	913	32	3	1581	3	SASH1	6	148852764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81	148852764	22262303	7682	15394											
SASH1	23328	broad.mit.edu	37	chr6	148865211	148865211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagattgtacctgaagtgCcacagaagacgaccgcctct	9	13	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148865211C>T	ENST00000367467.3	+	18	3080	c.2605C>T	c.(2605-2607)Cca>Tca	p.P869S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	869							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ACCTGAAGTGCCACAGAAGAC	0.562													False	0	False	6:148865211	0	T	148865211	C	T	148865211	3	4	88	1	0	0	0	0	1	0	0	0	13928	739	26	2	2675	2	SASH1	6	148865211	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12447	148865211	22249856	7683	15395											
SASH1	23328	broad.mit.edu	37	chr6	148865907	148865907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacgctcactgaaaacaagCtgcacgctgaaggcatcgat	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148865907C>A	ENST00000367467.3	+	18	3776	c.3301C>A	c.(3301-3303)Ctg>Atg	p.L1101M		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1101							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGAAAACAAGCTGCACGCTGA	0.557													False	0	False	6:148865907	0	A	148865907	C	A	148865907	3	1	88	1	0	0	0	0	1	0	0	0	13928	796	28	3	3371	3	SASH1	6	148865907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	696	148865907	22249160	7684	15396											
TAB2	23118	broad.mit.edu	37	chr6	149699842	149699842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacttgtcctgcatctaatcCtctgtcacatacctcatctc	3	15	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149699842C>A	ENST00000367456.1	+	4	1368	c.791C>A	c.(790-792)cCt>cAt	p.P264H	TAB2_ENST00000536230.1_Missense_Mutation_p.P232H|TAB2_ENST00000392282.1_Missense_Mutation_p.P264H|TAB2_ENST00000286332.5_Missense_Mutation_p.P264H|TAB2_ENST00000538427.1_Missense_Mutation_p.P264H			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	264					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GCATCTAATCCTCTGTCACAT	0.488													False	0	False	6:149699842	0	A	149699842	C	A	149699842	3	1	88	1	0	0	0	0	1	0	0	0	15578	681	24	3	797	3	TAB2	6	149699842	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	833935	149699842	21415225	7685	15397											
LATS1	9113	broad.mit.edu	37	chr6	149982884	149982884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaaacatatactagatcgCgatttttaatctctgagcct	6	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149982884C>T	ENST00000543571.1	-	8	3921	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H	LATS1_ENST00000253339.5_Missense_Mutation_p.R1125H	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	1125					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TACTAGATCGCGATTTTTAAT	0.353													False	0	False	6:149982884	0	T	149982884	C	T	149982884	3	4	88	1	0	0	0	0	1	0	0	0	8697	768	27	1	22	1	LATS1	6	149982884	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283042	149982884	21132183	7686	15398											
PCMT1	5110	broad.mit.edu	37	chr6	150114741	150114741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaaagagctagtagatgaCtcagtaaataatgtcaggaa	9	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150114741C>T	ENST00000464889.1	+	5	812	c.528C>T	c.(526-528)gaC>gaT	p.D176D	PCMT1_ENST00000367384.2_Silent_p.D176D|PCMT1_ENST00000544496.1_Silent_p.D83D|PCMT1_ENST00000367378.1_Silent_p.D176D|PCMT1_ENST00000367380.5_Silent_p.D118D					protein-L-isoaspartate (D-aspartate) O-methyltransferase											kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TAGTAGATGACTCAGTAAATA	0.373													False	0	False	6:150114741	0	T	150114741	C	T	150114741	2	4	88	1	0	0	0	0	0	0	0	1	11653	564	20	2		2	PCMT1	6	150114741	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131857	150114741	21000326	7687	15399											
RAET1L	154064	broad.mit.edu	37	chr6	150343282	150343282	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccacagtcatagtgaagAaaagtcttttcatccacctg	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150343282A>C	ENST00000367341.1	-	2	182	c.183T>G	c.(181-183)ttT>ttG	p.F61L	RAET1L_ENST00000286380.2_Missense_Mutation_p.F61L			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	61	MHC class I alpha-1 like (By similarity).				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		CATAGTGAAGAAAAGTCTTTT	0.507													False	0	True	6:150343282	0	C	150343282	A	C	150343282	3	2	88	1	0	0	0	0	1	0	0	0	13080	243	9	4	568	4	RAET1L	6	150343282	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	228541	150343282	20771785	7688	15400											
IYD	389434	broad.mit.edu	37	chr6	150715331	150715331	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaaatggcaagaaaaaagtCcactactacaatgagatcag	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150715331C>T	ENST00000344419.3	+	4	767	c.627C>T	c.(625-627)gtC>gtT	p.V209V	IYD_ENST00000229447.5_Silent_p.V209V|IYD_ENST00000392256.2_Silent_p.V209V|IYD_ENST00000392255.3_Silent_p.V209V|IYD_ENST00000425615.3_Silent_p.V154V|IYD_ENST00000500320.3_Silent_p.V209V	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	209					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AGAAAAAAGTCCACTACTACA	0.438													False	0	False	6:150715331	0	T	150715331	C	T	150715331	2	4	88	1	0	0	0	0	0	0	0	1	7982	842	30	2		2	IYD	6	150715331	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372049	150715331	20399736	7689	15401											
PLEKHG1	57480	broad.mit.edu	37	chr6	151125824	151125824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacacaatgcagcgagtcGcctggcatatcaatgacatg	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151125824G>A	ENST00000367328.1	+	8	1171	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.A287T	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	287	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.A287T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAGCGAGTCGCCTGGCATAT	0.517													False	0	False	6:151125824	0	A	151125824	G	A	151125824	3	1	88	1	0	0	0	0	1	0	0	0	12137	1087	38	1	881	1	PLEKHG1	6	151125824	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	410493	151125824	19989243	7690	15402											
PLEKHG1	57480	broad.mit.edu	37	chr6	151139352	151139352	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccttgaaatggatgccattCgtaagttttatttccttaaa	6	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151139352C>T	ENST00000367328.1	+	12	1624	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y	PLEKHG1_ENST00000358517.2_Splice_Site_p.H438Y	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	438					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGATGCCATTCGTAAGTTTTA	0.303													False	0	False	6:151139352	0	T	151139352	C	T	151139352	5	4	88	1	0	0	0	0	0	0	1	0	12137	898	31	1	1350	1	PLEKHG1	6	151139352	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13528	151139352	19975715	7691	15403											
PLEKHG1	57480	broad.mit.edu	37	chr6	151144795	151144795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttttatttttcagaaacaGcacaagacatccaaaaggta	5	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151144795G>T	ENST00000367328.1	+	15	1765	c.1453G>T	c.(1453-1455)Gca>Tca	p.A485S	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.A485S	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	485					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTCAGAAACAGCACAAGACAT	0.338													False	0	False	6:151144795	0	T	151144795	G	T	151144795	3	4	88	1	0	0	0	0	1	0	0	0	12137	971	34	3	1503	3	PLEKHG1	6	151144795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5443	151144795	19970272	7692	15404											
PLEKHG1	57480	broad.mit.edu	37	chr6	151161984	151161984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatcaacaaaatattgtccaGtctctaagggaaaaatttca	5	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151161984G>T	ENST00000367328.1	+	17	4422	c.4110G>T	c.(4108-4110)caG>caT	p.Q1370H	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.Q1370H	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1370					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATATTGTCCAGTCTCTAAGGG	0.373													False	0	False	6:151161984	0	T	151161984	G	T	151161984	3	4	88	1	0	0	0	0	1	0	0	0	12137	1020	36	3	4168	3	PLEKHG1	6	151161984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17189	151161984	19953083	7693	15405											
MTHFD1L	25902	broad.mit.edu	37	chr6	151281474	151281474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccctgacggacagcctcGcagacatgaaggcacggctg	14	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151281474G>A	ENST00000367321.3	+	18	2141	c.1867G>A	c.(1867-1869)Gca>Aca	p.A623T		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	623	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GGACAGCCTCGCAGACATGAA	0.592													False	0	False	6:151281474	0	A	151281474	G	A	151281474	3	1	88	1	0	0	0	0	1	0	0	0	9995	1087	38	1	1937	1	MTHFD1L	6	151281474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119490	151281474	19833593	7694	15406											
AKAP12	9590	broad.mit.edu	37	chr6	151671445	151671445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctggacaaggtcaagaGcgctaccttgtcttccaccg	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151671445G>A	ENST00000402676.2	+	4	2159	c.1919G>A	c.(1918-1920)aGc>aAc	p.S640N	AKAP12_ENST00000359755.5_Missense_Mutation_p.S535N|AKAP12_ENST00000253332.1_Missense_Mutation_p.S640N|AKAP12_ENST00000354675.6_Missense_Mutation_p.S542N	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	640					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAGGTCAAGAGCGCTACCTTG	0.512													False	0	False	6:151671445	0	A	151671445	G	A	151671445	3	1	88	1	0	0	0	0	1	0	0	0	448	971	34	2	1958	2	AKAP12	6	151671445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389971	151671445	19443622	7695	15407											
AKAP12	9590	broad.mit.edu	37	chr6	151672017	151672017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagcccctgttgaagacGcagggccaacaggggccaac	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151672017G>A	ENST00000402676.2	+	4	2731	c.2491G>A	c.(2491-2493)Gca>Aca	p.A831T	AKAP12_ENST00000359755.5_Missense_Mutation_p.A726T|AKAP12_ENST00000253332.1_Missense_Mutation_p.A831T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A733T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	831					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.A831S(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGTTGAAGACGCAGGGCCAAC	0.512													False	0	False	6:151672017	0	A	151672017	G	A	151672017	3	1	88	1	0	0	0	0	1	0	0	0	448	1087	38	1	2530	1	AKAP12	6	151672017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	572	151672017	19443050	7696	15408											
AKAP12	9590	broad.mit.edu	37	chr6	151672727	151672727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccagaagatgtgcttcaGcctgtgcagagagcagaggc	16	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151672727G>A	ENST00000402676.2	+	4	3441	c.3201G>A	c.(3199-3201)caG>caA	p.Q1067Q	AKAP12_ENST00000359755.5_Silent_p.Q962Q|AKAP12_ENST00000253332.1_Silent_p.Q1067Q|AKAP12_ENST00000354675.6_Silent_p.Q969Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1067					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ATGTGCTTCAGCCTGTGCAGA	0.552													False	0	False	6:151672727	0	A	151672727	G	A	151672727	2	1	88	1	0	0	0	0	0	0	0	1	448	962	34	2		2	AKAP12	6	151672727	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	710	151672727	19442340	7697	15409											
ZBTB2	57621	broad.mit.edu	37	chr6	151687214	151687214	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgactgctgctgcccatcGatgatgggagaatcagagat	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151687214G>A	ENST00000325144.4	-	3	1127	c.987C>T	c.(985-987)atC>atT	p.I329I		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GCTGCCCATCGATGATGGGAG	0.567													False	0	False	6:151687214	0	A	151687214	G	A	151687214	2	1	88	1	0	0	0	0	0	0	0	1	17611	1048	37	1		1	ZBTB2	6	151687214	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14487	151687214	19427853	7698	15410											
ZBTB2	57621	broad.mit.edu	37	chr6	151687588	151687588	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacaggagtggaaacaagttCtggagacagcgaggtctgca	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151687588C>A	ENST00000325144.4	-	3	753	c.613G>T	c.(613-615)Gaa>Taa	p.E205*		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GAAACAAGTTCTGGAGACAGC	0.582													False	0	False	6:151687588	0	A	151687588	C	A	151687588	4	1	88	1	0	0	0	0	0	1	0	0	17611	922	32	3	935	3	ZBTB2	6	151687588	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	374	151687588	19427479	7699	15411											
RMND1	55005	broad.mit.edu	37	chr6	151766865	151766865	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttaagtggttttaacattaGatgaccgattcttcggcact	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151766865G>T	ENST00000367303.4	-	2	204	c.82C>A	c.(82-84)Cta>Ata	p.L28I	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	28										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TTTAACATTAGATGACCGATT	0.418													False	0	False	6:151766865	0	T	151766865	G	T	151766865	3	4	88	1	0	0	0	0	1	0	0	0	13475	933	33	3	1311	3	RMND1	6	151766865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79277	151766865	19348202	7700	15412											
ESR1	2099	broad.mit.edu	37	chr6	152415580	152415580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agagaaggaccatatccaccGagtcctggacaagatcacag	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152415580G>T	ENST00000440973.1	+	9	1800	c.1430G>T	c.(1429-1431)cGa>cTa	p.R477L	ESR1_ENST00000206249.3_Missense_Mutation_p.R477L|ESR1_ENST00000456483.2_Missense_Mutation_p.R365L|ESR1_ENST00000443427.1_Missense_Mutation_p.R477L|ESR1_ENST00000338799.5_Missense_Mutation_p.R477L|ESR1_ENST00000406599.1_Missense_Mutation_p.R216L|ESR1_ENST00000427531.2_Intron	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	477	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CATATCCACCGAGTCCTGGAC	0.557													False	0	False	6:152415580	0	T	152415580	G	T	152415580	3	4	88	1	0	0	0	0	1	0	0	0	5288	1058	37	3	1456	3	ESR1	6	152415580	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	648715	152415580	18699487	7701	15413											
SYNE1	23345	broad.mit.edu	37	chr6	152457923	152457923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgatggagaggatgatggCtttgcggtggtccacagctt	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152457923C>T	ENST00000367255.5	-	141	26090	c.25489G>A	c.(25489-25491)Gcc>Acc	p.A8497T	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.A675T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A652T|SYNE1_ENST00000356820.4_Missense_Mutation_p.A3021T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A8109T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A8497T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A8449T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A8449T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8497					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGATGATGGCTTTGCGGTGG	0.483										HNSCC(10;0.0054)			False	0	True	6:152457923	0	T	152457923	C	T	152457923	3	4	88	1	0	0	0	0	1	0	0	0	15527	797	28	2	928	2	SYNE1	6	152457923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42343	152457923	18657144	7702	15414											
SYNE1	23345	broad.mit.edu	37	chr6	152462355	152462355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagccgtttgggtttcgGtactatgcaggttaacaaag	11	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152462355G>A	ENST00000367255.5	-	139	25830	c.25229C>T	c.(25228-25230)aCc>aTc	p.T8410I	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.T588I|SYNE1_ENST00000539504.1_Missense_Mutation_p.T565I|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2934I|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8022I|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8410I|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8362I|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8362I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8410					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGGTTTCGGTACTATGCAG	0.483										HNSCC(10;0.0054)			False	0	False	6:152462355	0	A	152462355	G	A	152462355	3	1	88	1	0	0	0	0	1	0	0	0	15527	1261	44	2	1196	2	SYNE1	6	152462355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4432	152462355	18652712	7703	15415											
SYNE1	23345	broad.mit.edu	37	chr6	152466669	152466669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagttttacataggcctcaGggctttcggggatcattaca	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152466669G>T	ENST00000448038.1	-	138	25386	c.24785C>A	c.(24784-24786)cCt>cAt	p.P8262H	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.P488H|SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000539504.1_Intron|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8262H			Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8324					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAGGCCTCAGGGCTTTCGGG	0.463										HNSCC(10;0.0054)			False	0	True	6:152466669	0	T	152466669	G	T	152466669	3	4	88	1	0	0	0	0	1	0	0	0	15527	1000	35	3	1504	3	SYNE1	6	152466669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4314	152466669	18648398	7704	15416											
SYNE1	23345	broad.mit.edu	37	chr6	152476174	152476174	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaatcgccacgtctcttcGattctggggcggaaaatgaa	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152476174G>A	ENST00000367255.5	-	133	24583	c.23982C>T	c.(23980-23982)atC>atT	p.I7994I	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Silent_p.I149I|SYNE1_ENST00000539504.1_Silent_p.I149I|SYNE1_ENST00000356820.4_Silent_p.I2518I|SYNE1_ENST00000341594.5_Silent_p.I7606I|SYNE1_ENST00000265368.4_Silent_p.I7994I|SYNE1_ENST00000423061.1_Silent_p.I7923I|SYNE1_ENST00000448038.1_Silent_p.I7923I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7994					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACGTCTCTTCGATTCTGGGGC	0.478										HNSCC(10;0.0054)			False	0	False	6:152476174	0	A	152476174	G	A	152476174	2	1	88	1	0	0	0	0	0	0	0	1	15527	1048	37	1		1	SYNE1	6	152476174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9505	152476174	18638893	7705	15417											
SYNE1	23345	broad.mit.edu	37	chr6	152477184	152477184	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggacttcacacaggttgaGgacagatgcaacacctgtac	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152477184G>T	ENST00000367255.5	-	132	24440	c.23839C>A	c.(23839-23841)Ctc>Atc	p.L7947I	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.L102I|SYNE1_ENST00000539504.1_Missense_Mutation_p.L102I|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2471I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7559I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7947I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7876I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7876I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7947					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACAGGTTGAGGACAGATGCA	0.512										HNSCC(10;0.0054)			False	0	False	6:152477184	0	T	152477184	G	T	152477184	3	4	88	1	0	0	0	0	1	0	0	0	15527	1000	35	3	2687	3	SYNE1	6	152477184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1010	152477184	18637883	7706	15418											
SYNE1	23345	broad.mit.edu	37	chr6	152485435	152485435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaagctgctgcacggctaCcagggtctccttcagcttct	9	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152485435C>T	ENST00000367255.5	-	131	24254	c.23653G>A	c.(23653-23655)Gta>Ata	p.V7885I	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.V40I|SYNE1_ENST00000539504.1_Missense_Mutation_p.V40I|SYNE1_ENST00000356820.4_Missense_Mutation_p.V2409I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V7497I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V7885I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V7814I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V7814I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7885					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCACGGCTACCAGGGTCTCC	0.552										HNSCC(10;0.0054)			False	0	False	6:152485435	0	T	152485435	C	T	152485435	3	4	88	1	0	0	0	0	1	0	0	0	15527	507	18	2	2877	2	SYNE1	6	152485435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8251	152485435	18629632	7707	15419											
SYNE1	23345	broad.mit.edu	37	chr6	152497616	152497616	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagatgctttgctttcatggCtggctttagcaagtcgttct	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152497616C>A	ENST00000367255.5	-	130	24141	c.23540G>T	c.(23539-23541)aGc>aTc	p.S7847I	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2371I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S7459I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7847I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7776I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7776I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7847					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTTTCATGGCTGGCTTTAGC	0.443										HNSCC(10;0.0054)			False	0	True	6:152497616	0	A	152497616	C	A	152497616	3	1	88	1	0	0	0	0	1	0	0	0	15527	797	28	3	2994	3	SYNE1	6	152497616	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12181	152497616	18617451	7708	15420											
SYNE1	23345	broad.mit.edu	37	chr6	152577893	152577893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaagagtcgatttggcctgCtataaagctgtaggcaaaca	10	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152577893C>A	ENST00000367255.5	-	102	19581	c.18980G>T	c.(18979-18981)aGc>aTc	p.S6327I	SYNE1_ENST00000356820.4_Missense_Mutation_p.S851I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S5939I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6327I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6256I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6256I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6327					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTGGCCTGCTATAAAGCTG	0.433										HNSCC(10;0.0054)			False	0	False	6:152577893	0	A	152577893	C	A	152577893	3	1	88	1	0	0	0	0	1	0	0	0	15527	797	28	3	7666	3	SYNE1	6	152577893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80277	152577893	18537174	7709	15421											
SYNE1	23345	broad.mit.edu	37	chr6	152642447	152642447	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaggtaatatggtataaaGacctaagtacttctccttct	7	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152642447G>T	ENST00000367255.5	-	84	16763	c.16162C>A	c.(16162-16164)Ctt>Att	p.L5388I	SYNE1_ENST00000341594.5_Missense_Mutation_p.L5061I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5388I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5317I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L5317I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5388					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGGTATAAAGACCTAAGTAC	0.388										HNSCC(10;0.0054)			False	0	True	6:152642447	0	T	152642447	G	T	152642447	3	4	88	1	0	0	0	0	1	0	0	0	15527	942	33	3	10556	3	SYNE1	6	152642447	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64554	152642447	18472620	7710	15422											
SYNE1	23345	broad.mit.edu	37	chr6	152647525	152647525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttctaggtcttctttgcCggttggcttgatgagtgggt	14	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152647525C>T	ENST00000367255.5	-	79	15800	c.15199G>A	c.(15199-15201)Ggc>Agc	p.G5067S	SYNE1_ENST00000341594.5_Missense_Mutation_p.G4814S|SYNE1_ENST00000265368.4_Missense_Mutation_p.G5067S|SYNE1_ENST00000423061.1_Missense_Mutation_p.G4996S|SYNE1_ENST00000448038.1_Missense_Mutation_p.G4996S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5067					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCTTTGCCGGTTGGCTTG	0.522										HNSCC(10;0.0054)			False	0	False	6:152647525	0	T	152647525	C	T	152647525	3	4	88	1	0	0	0	0	1	0	0	0	15527	652	23	1	11539	1	SYNE1	6	152647525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5078	152647525	18467542	7711	15423											
SYNE1	23345	broad.mit.edu	37	chr6	152652132	152652132	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttccttaaaatgcttcctaGaaaccaaattcttctctagt	3	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652132G>T	ENST00000367255.5	-	78	14289	c.13688C>A	c.(13687-13689)tCt>tAt	p.S4563Y	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4563Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4492Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4492Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4563					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGCTTCCTAGAAACCAAATT	0.383										HNSCC(10;0.0054)			False	0	True	6:152652132	0	T	152652132	G	T	152652132	3	4	88	1	0	0	0	0	1	0	0	0	15527	942	33	3	13054	3	SYNE1	6	152652132	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4607	152652132	18462935	7712	15424											
SYNE1	23345	broad.mit.edu	37	chr6	152652461	152652461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagaaactgggttttctcGgacaaggctttgtttaagta	11	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652461G>A	ENST00000367255.5	-	78	13960	c.13359C>T	c.(13357-13359)tcC>tcT	p.S4453S	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.S4453S|SYNE1_ENST00000423061.1_Silent_p.S4382S|SYNE1_ENST00000448038.1_Silent_p.S4382S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4453					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.S4453S(2)|p.S4382S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGTTTTCTCGGACAAGGCTT	0.478										HNSCC(10;0.0054)			False	0	False	6:152652461	0	A	152652461	G	A	152652461	2	1	88	1	0	0	0	0	0	0	0	1	15527	1103	39	1		1	SYNE1	6	152652461	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329	152652461	18462606	7713	15425											
SYNE1	23345	broad.mit.edu	37	chr6	152652508	152652508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgctggcccactaagtcacTgagacaattcacgtggcttt	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652508T>C	ENST00000367255.5	-	78	13913	c.13312A>G	c.(13312-13314)Agt>Ggt	p.S4438G	SYNE1_ENST00000341594.5_Missense_Mutation_p.S4303G|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4438G|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4367G|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4367G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4438					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTAAGTCACTGAGACAATTC	0.493										HNSCC(10;0.0054)			False	0	False	6:152652508	0	C	152652508	T	C	152652508	3	2	88	1	0	0	0	0	1	0	0	0	15527	1580	55	4	13430	4	SYNE1	6	152652508	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47	152652508	18462559	7714	15426											
SYNE1	23345	broad.mit.edu	37	chr6	152658135	152658135	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagttaagttctgggcctgGacaagcttttgttcaatctt	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152658135G>A	ENST00000367255.5	-	76	12970	c.12369C>T	c.(12367-12369)gtC>gtT	p.V4123V	SYNE1_ENST00000341594.5_Silent_p.V3988V|SYNE1_ENST00000265368.4_Silent_p.V4123V|SYNE1_ENST00000423061.1_Silent_p.V4052V|SYNE1_ENST00000448038.1_Silent_p.V4052V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4123					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGGGCCTGGACAAGCTTTT	0.423										HNSCC(10;0.0054)			False	0	False	6:152658135	0	A	152658135	G	A	152658135	2	1	88	1	0	0	0	0	0	0	0	1	15527	1161	41	2		2	SYNE1	6	152658135	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5627	152658135	18456932	7715	15427											
SYNE1	23345	broad.mit.edu	37	chr6	152673222	152673222	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attttgggttcttcaggaacAtgtagaatttcctggtattc	9	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152673222A>G	ENST00000367255.5	-	70	12121	c.11520T>C	c.(11518-11520)caT>caC	p.H3840H	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.H3840H|SYNE1_ENST00000423061.1_Silent_p.H3825H|SYNE1_ENST00000448038.1_Silent_p.H3825H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3840					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCAGGAACATGTAGAATTT	0.378										HNSCC(10;0.0054)			False	0	False	6:152673222	0	G	152673222	A	G	152673222	2	3	88	1	0	0	0	0	0	0	0	1	15527	214	8	4		4	SYNE1	6	152673222	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15087	152673222	18441845	7716	15428											
SYNE1	23345	broad.mit.edu	37	chr6	152676008	152676008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccggagagactctaaaGcccggtcctctgcctgtggg	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152676008G>A	ENST00000367255.5	-	67	11313	c.10712C>T	c.(10711-10713)gCt>gTt	p.A3571V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A3542V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3571V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3578V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3578V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3571					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGACTCTAAAGCCCGGTCCTC	0.547										HNSCC(10;0.0054)			False	0	True	6:152676008	0	A	152676008	G	A	152676008	3	1	88	1	0	0	0	0	1	0	0	0	15527	971	34	2	16074	2	SYNE1	6	152676008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2786	152676008	18439059	7717	15429											
SYNE1	23345	broad.mit.edu	37	chr6	152683354	152683354	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagctccgcatgctgcCtttctgattcattcaggttg	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152683354C>A	ENST00000367255.5	-	64	10851	c.10250G>T	c.(10249-10251)aGg>aTg	p.R3417M	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3417M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3424M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R3424M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3417					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGCATGCTGCCTTTCTGATTC	0.483										HNSCC(10;0.0054)			False	0	True	6:152683354	0	A	152683354	C	A	152683354	3	1	88	1	0	0	0	0	1	0	0	0	15527	681	24	3	16548	3	SYNE1	6	152683354	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7346	152683354	18431713	7718	15430											
SYNE1	23345	broad.mit.edu	37	chr6	152694260	152694260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggcctggatccctttcGctttctctttggtcagcagg	10	12	2	0	rs146402274		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152694260G>A	ENST00000367255.5	-	59	10020	c.9419C>T	c.(9418-9420)gCg>gTg	p.A3140V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A3179V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3140V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3147V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3147V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3140					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATCCCTTTCGCTTTCTCTTT	0.398										HNSCC(10;0.0054)			False	0	False	6:152694260	0	A	152694260	G	A	152694260	3	1	88	1	0	0	0	0	1	0	0	0	15527	1087	38	1	17399	1	SYNE1	6	152694260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10906	152694260	18420807	7719	15431											
SYNE1	23345	broad.mit.edu	37	chr6	152697632	152697632	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaatccctgaaggcctttcGaaatctttgctgtaaaatct	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152697632G>A	ENST00000367255.5	-	58	9809	c.9208C>T	c.(9208-9210)Cga>Tga	p.R3070*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R3109*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R3070*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R3077*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R3077*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3070					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGGCCTTTCGAAATCTTTGC	0.388										HNSCC(10;0.0054)			False	0	True	6:152697632	0	A	152697632	G	A	152697632	4	1	88	1	0	0	0	0	0	1	0	0	15527	1066	37	1	17614	1	SYNE1	6	152697632	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3372	152697632	18417435	7720	15432											
SYNE1	23345	broad.mit.edu	37	chr6	152706910	152706910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggagccaatctgtgaactCgtggaccgcatctaaataca	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152706910C>T	ENST00000367255.5	-	55	9152	c.8551G>A	c.(8551-8553)Gag>Aag	p.E2851K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2890K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2851K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2858K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2858K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2851					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGTGAACTCGTGGACCGCA	0.393										HNSCC(10;0.0054)			False	0	False	6:152706910	0	T	152706910	C	T	152706910	3	4	88	1	0	0	0	0	1	0	0	0	15527	893	31	1	18283	1	SYNE1	6	152706910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9278	152706910	18408157	7721	15433											
SYNE1	23345	broad.mit.edu	37	chr6	152737755	152737755	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcctttgctcagagctcccGattttcagatggtattgggc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152737755G>A	ENST00000367255.5	-	41	6418	c.5817C>T	c.(5815-5817)atC>atT	p.I1939I	SYNE1_ENST00000341594.5_Silent_p.I1976I|SYNE1_ENST00000265368.4_Silent_p.I1939I|SYNE1_ENST00000423061.1_Silent_p.I1946I|SYNE1_ENST00000448038.1_Silent_p.I1946I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1939					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGAGCTCCCGATTTTCAGAT	0.493										HNSCC(10;0.0054)			False	0	True	6:152737755	0	A	152737755	G	A	152737755	2	1	88	1	0	0	0	0	0	0	0	1	15527	1048	37	1		1	SYNE1	6	152737755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30845	152737755	18377312	7722	15434											
SYNE1	23345	broad.mit.edu	37	chr6	152738006	152738006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctccacaacctggctggCctcctcaaacagctggaagc	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152738006C>T	ENST00000367255.5	-	41	6167	c.5566G>A	c.(5566-5568)Gcc>Acc	p.A1856T	SYNE1_ENST00000341594.5_Missense_Mutation_p.A1893T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1856T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1863T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1863T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1856					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTGGCTGGCCTCCTCAAAC	0.602										HNSCC(10;0.0054)			False	0	True	6:152738006	0	T	152738006	C	T	152738006	3	4	88	1	0	0	0	0	1	0	0	0	15527	739	26	2	21324	2	SYNE1	6	152738006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251	152738006	18377061	7723	15435											
SYNE1	23345	broad.mit.edu	37	chr6	152749345	152749345	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtgctgctcacctctgCcagtgggccagcagattctc	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152749345C>A	ENST00000367255.5	-	37	5572	c.4971G>T	c.(4969-4971)tgG>tgT	p.W1657C	SYNE1_ENST00000367253.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000341594.5_Missense_Mutation_p.W1727C|SYNE1_ENST00000265368.4_Missense_Mutation_p.W1657C|SYNE1_ENST00000423061.1_Missense_Mutation_p.W1664C|SYNE1_ENST00000448038.1_Missense_Mutation_p.W1664C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1657					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCACCTCTGCCAGTGGGCCA	0.517										HNSCC(10;0.0054)			False	0	False	6:152749345	0	A	152749345	C	A	152749345	3	1	88	1	0	0	0	0	1	0	0	0	15527	740	26	3	21935	3	SYNE1	6	152749345	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11339	152749345	18365722	7724	15436											
SYNE1	23345	broad.mit.edu	37	chr6	152749391	152749391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctgtctctccttcgccCtccttaggatgtcctcgtat	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152749391C>A	ENST00000367255.5	-	37	5526	c.4925G>T	c.(4924-4926)aGg>aTg	p.R1642M	SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712M|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642M|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649M|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1642					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCTTCGCCCTCCTTAGGAT	0.532										HNSCC(10;0.0054)			False	0	True	6:152749391	0	A	152749391	C	A	152749391	3	1	88	1	0	0	0	0	1	0	0	0	15527	681	24	3	21981	3	SYNE1	6	152749391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	152749391	18365676	7725	15437											
SYNE1	23345	broad.mit.edu	37	chr6	152757165	152757165	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttattttggggcccaagCggtatctctgaagcttcctt	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152757165C>T	ENST00000367255.5	-	33	4822	c.4221G>A	c.(4219-4221)ccG>ccA	p.P1407P	SYNE1_ENST00000367248.3_Silent_p.P1397P|SYNE1_ENST00000413186.2_Silent_p.P1407P|SYNE1_ENST00000367253.4_Silent_p.P1407P|SYNE1_ENST00000341594.5_Silent_p.P1473P|SYNE1_ENST00000265368.4_Silent_p.P1407P|SYNE1_ENST00000423061.1_Silent_p.P1414P|SYNE1_ENST00000448038.1_Silent_p.P1414P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1407					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGGCCCAAGCGGTATCTCTG	0.403										HNSCC(10;0.0054)			False	0	False	6:152757165	0	T	152757165	C	T	152757165	2	4	88	1	0	0	0	0	0	0	0	1	15527	755	27	1		1	SYNE1	6	152757165	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7774	152757165	18357902	7726	15438											
SYNE1	23345	broad.mit.edu	37	chr6	152777048	152777048	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaacatgaatatctgcaatCtgtctttgtagcctcgtctg	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152777048C>A	ENST00000367255.5	-	23	3301	c.2700G>T	c.(2698-2700)caG>caT	p.Q900H	SYNE1_ENST00000367248.3_Missense_Mutation_p.Q890H|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q900H|SYNE1_ENST00000495090.2_Missense_Mutation_p.Q467H|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D952Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q900H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q907H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q907H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	900					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATCTGCAATCTGTCTTTGTA	0.418										HNSCC(10;0.0054)			False	0	False	6:152777048	0	A	152777048	C	A	152777048	3	1	88	1	0	0	0	0	1	0	0	0	15527	912	32	3	24262	3	SYNE1	6	152777048	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19883	152777048	18338019	7727	15439											
FBXO5	26271	broad.mit.edu	37	chr6	153296625	153296625	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctttacaggaaccttccaAatatgcaggggtgtaggaaa	11	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153296625A>G	ENST00000367241.3	-	2	477	c.97T>C	c.(97-99)Ttg>Ctg	p.L33L	FBXO5_ENST00000229758.3_Silent_p.L79L	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	79					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GAACCTTCCAAATATGCAGGG	0.393													False	0	True	6:153296625	0	G	153296625	A	G	153296625	2	3	88	1	0	0	0	0	0	0	0	1	5798	11	1	4		4	FBXO5	6	153296625	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	519577	153296625	17818442	7728	15440											
FBXO5	26271	broad.mit.edu	37	chr6	153296711	153296711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacatggttacaattaaaaTcacacttcattttgacagaa	5	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153296711T>C	ENST00000367241.3	-	2	391	c.11A>G	c.(10-12)gAt>gGt	p.D4G	FBXO5_ENST00000229758.3_Missense_Mutation_p.D50G	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	50					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		ACAATTAAAATCACACTTCAT	0.353													False	0	True	6:153296711	0	C	153296711	T	C	153296711	3	2	88	1	0	0	0	0	1	0	0	0	5798	1435	50	4	1210	4	FBXO5	6	153296711	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86	153296711	17818356	7729	15441											
MTRF1L	54516	broad.mit.edu	37	chr6	153315696	153315696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatggtgctagtatggacGcggccttgcttttctgtctt	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153315696G>A	ENST00000367233.5	-	4	638	c.639C>T	c.(637-639)cgC>cgT	p.R213R	MTRF1L_ENST00000367231.5_Silent_p.R213R|MTRF1L_ENST00000367230.1_Silent_p.R177R|MTRF1L_ENST00000464135.1_5'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	213						mitochondrion	translation release factor activity, codon specific			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TAGTATGGACGCGGCCTTGCT	0.507													False	0	False	6:153315696	0	A	153315696	G	A	153315696	2	1	88	1	0	0	0	0	0	0	0	1	10027	1074	38	1		1	MTRF1L	6	153315696	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18985	153315696	17799371	7730	15442											
RGS17	26575	broad.mit.edu	37	chr6	153347642	153347642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtgtgtgtgggtcttccCgcattttcccctctttcttc	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153347642C>T	ENST00000367225.2	-	2	180	c.156G>A	c.(154-156)gcG>gcA	p.A52A	RGS17_ENST00000206262.1_Silent_p.A52A			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	52					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.A52A(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TGGGTCTTCCCGCATTTTCCC	0.388													False	0	True	6:153347642	0	T	153347642	C	T	153347642	2	4	88	1	0	0	0	0	0	0	0	1	13378	639	23	1		1	RGS17	6	153347642	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31946	153347642	17767425	7731	15443											
RGS17	26575	broad.mit.edu	37	chr6	153365061	153365061	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcaacaacagcaccaAcaaaagcaacaggtgttgtt	8	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153365061A>C	ENST00000367225.2	-	1	117	c.93T>G	c.(91-93)tgT>tgG	p.C31W	RGS17_ENST00000206262.1_Missense_Mutation_p.C31W			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	31	Poly-Cys.				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AACAGCACCAACAAAAGCAAC	0.507													False	0	False	6:153365061	0	C	153365061	A	C	153365061	3	2	88	1	0	0	0	0	1	0	0	0	13378	41	2	4	555	4	RGS17	6	153365061	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17419	153365061	17750006	7732	15444											
OPRM1	4988	broad.mit.edu	37	chr6	154412127	154412127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acattctctcatccaacctgGtactgggaaaacctgctgaa	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154412127G>T	ENST00000414028.2	+	3	734	c.684G>T	c.(682-684)tgG>tgT	p.W228C	OPRM1_ENST00000524163.1_Missense_Mutation_p.W228C|OPRM1_ENST00000337049.4_Missense_Mutation_p.W228C|OPRM1_ENST00000428397.2_Missense_Mutation_p.W228C|OPRM1_ENST00000419506.2_Missense_Mutation_p.W228C|OPRM1_ENST00000435918.2_Missense_Mutation_p.W228C|OPRM1_ENST00000330432.7_Missense_Mutation_p.W228C|OPRM1_ENST00000520708.1_Missense_Mutation_p.W128C|OPRM1_ENST00000229768.5_Missense_Mutation_p.W228C|OPRM1_ENST00000434900.2_Missense_Mutation_p.W321C|OPRM1_ENST00000360422.4_Missense_Mutation_p.W228C|OPRM1_ENST00000452687.2_Missense_Mutation_p.W228C|OPRM1_ENST00000518759.1_Missense_Mutation_p.W147C|OPRM1_ENST00000522236.1_Missense_Mutation_p.W128C|OPRM1_ENST00000522555.1_Missense_Mutation_p.W128C	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	228					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ATCCAACCTGGTACTGGGAAA	0.398													False	0	False	6:154412127	0	T	154412127	G	T	154412127	3	4	88	1	0	0	0	0	1	0	0	0	10955	1270	44	3	1028	3	OPRM1	6	154412127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1047066	154412127	16702940	7733	15445											
CNKSR3	154043	broad.mit.edu	37	chr6	154727608	154727608	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttcctcctggaatggaatCgtggcgctgctgtggagatc	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154727608C>T	ENST00000607772.1	-	13	2092	c.1548G>A	c.(1546-1548)acG>acA	p.T516T	CNKSR3_ENST00000433165.2_Silent_p.T341T|CNKSR3_ENST00000479339.1_Silent_p.T436T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	516	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGAATGGAATCGTGGCGCTGC	0.587													False	0	False	6:154727608	0	T	154727608	C	T	154727608	2	4	88	1	0	0	0	0	0	0	0	1	3631	871	31	1		1	CNKSR3	6	154727608	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315481	154727608	16387459	7734	15446											
CNKSR3	154043	broad.mit.edu	37	chr6	154743640	154743640	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttacagttaatcccagatacCtgtacaagaggtggcttcca	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154743640C>A	ENST00000607772.1	-	9	1489	c.945G>T	c.(943-945)caG>caT	p.Q315H	CNKSR3_ENST00000433165.2_Splice_Site_p.Q140H|CNKSR3_ENST00000479339.1_Splice_Site_p.Q235H	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	315					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCCCAGATACCTGTACAAGAG	0.438													False	0	False	6:154743640	0	A	154743640	C	A	154743640	5	1	88	1	0	0	0	0	0	0	1	0	3631	695	24	3	742	3	CNKSR3	6	154743640	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16032	154743640	16371427	7735	15447											
TIAM2	26230	broad.mit.edu	37	chr6	155465849	155465849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atagtgcagtctgttccagaGcatcccaagaaagaaaatgt	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155465849G>T	ENST00000461783.3	+	8	3013	c.1740G>T	c.(1738-1740)gaG>gaT	p.E580D	TIAM2_ENST00000456144.1_Missense_Mutation_p.E580D|TIAM2_ENST00000360366.4_Missense_Mutation_p.E580D|TIAM2_ENST00000529824.2_Missense_Mutation_p.E580D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.E580D			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	580	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGTTCCAGAGCATCCCAAGA	0.463													False	0	False	6:155465849	0	T	155465849	G	T	155465849	3	4	88	1	0	0	0	0	1	0	0	0	15973	962	34	3	1750	3	TIAM2	6	155465849	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	722209	155465849	15649218	7736	15448											
TIAM2	26230	broad.mit.edu	37	chr6	155572061	155572061	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctaggtaacagaactttcGatgggagagcttctgatgca	11	7	2	3	rs145496334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155572061G>A	ENST00000461783.3	+	24	5239	c.3966G>A	c.(3964-3966)tcG>tcA	p.S1322S	TIAM2_ENST00000528391.2_Silent_p.S658S|TIAM2_ENST00000456877.2_Silent_p.S634S|TIAM2_ENST00000456144.1_Silent_p.S1351S|TIAM2_ENST00000360366.4_Silent_p.S1346S|TIAM2_ENST00000529824.2_Silent_p.S1351S|TIAM2_ENST00000275246.7_Silent_p.S247S|TIAM2_ENST00000367174.2_Silent_p.S698S|TIAM2_ENST00000318981.5_Silent_p.S1322S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1322					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGAACTTTCGATGGGAGAGC	0.418													False	0	False	6:155572061	0	A	155572061	G	A	155572061	2	1	88	1	0	0	0	0	0	0	0	1	15973	1045	37	1		1	TIAM2	6	155572061	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106212	155572061	15543006	7737	15449											
NOX3	50508	broad.mit.edu	37	chr6	155752006	155752006	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaacttcttgttgaaatcGccagaacctaattattcttt	5	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155752006G>A	ENST00000159060.2	-	8	964	c.862C>T	c.(862-864)Cga>Tga	p.R288*		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	288	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGTTGAAATCGCCAGAACCTA	0.363													False	0	False	6:155752006	0	A	155752006	G	A	155752006	4	1	88	1	0	0	0	0	0	1	0	0	10625	1095	38	1	868	1	NOX3	6	155752006	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179945	155752006	15363061	7738	15450											
ARID1B	57492	broad.mit.edu	37	chr6	157495196	157495196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatccaaactgcccctgcCtctcaaagcagacggcaaag	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157495196C>T	ENST00000346085.5	+	11	3081	c.3080C>T	c.(3079-3081)cCt>cTt	p.P1027L	ARID1B_ENST00000350026.5_Missense_Mutation_p.P1014L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1014L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P956L|ARID1B_ENST00000478761.2_3'UTR	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1014					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGCCCCTGCCTCTCAAAGCA	0.498													False	0	False	6:157495196	0	T	157495196	C	T	157495196	3	4	88	1	0	0	0	0	1	0	0	0	916	681	24	2	3122	2	ARID1B	6	157495196	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1743190	157495196	13619871	7739	15451											
ARID1B	57492	broad.mit.edu	37	chr6	157505566	157505566	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccaagctccagccgccatctCctggtaagtggcggcgctgc	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157505566C>A	ENST00000346085.5	+	13	3548	c.3547C>A	c.(3547-3549)Cct>Act	p.P1183T	ARID1B_ENST00000350026.5_Missense_Mutation_p.P1170T|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1223T|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1165T	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1170					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCCGCCATCTCCTGGTAAGTG	0.632													False	0	False	6:157505566	0	A	157505566	C	A	157505566	3	1	88	1	0	0	0	0	1	0	0	0	916	855	30	3	3597	3	ARID1B	6	157505566	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10370	157505566	13609501	7740	15452											
ARID1B	57492	broad.mit.edu	37	chr6	157522258	157522258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggataaatcatgagagCcagtggccttctcacgtcag	11	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157522258C>T	ENST00000346085.5	+	18	4531	c.4530C>T	c.(4528-4530)agC>agT	p.S1510S	ARID1B_ENST00000350026.5_Silent_p.S1497S|ARID1B_ENST00000367148.1_Silent_p.S1550S|ARID1B_ENST00000275248.4_Silent_p.S1492S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1497	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATCATGAGAGCCAGTGGCCTT	0.607													False	0	False	6:157522258	0	T	157522258	C	T	157522258	2	4	88	1	0	0	0	0	0	0	0	1	916	738	26	2		2	ARID1B	6	157522258	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16692	157522258	13592809	7741	15453											
ARID1B	57492	broad.mit.edu	37	chr6	157525014	157525014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcagttactcctgaggcgTggcgtgtgatgatgtccctt	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157525014T>C	ENST00000346085.5	+	19	4910	c.4909T>C	c.(4909-4911)Tgg>Cgg	p.W1637R	ARID1B_ENST00000350026.5_Missense_Mutation_p.W1624R|ARID1B_ENST00000367148.1_Missense_Mutation_p.W1677R|ARID1B_ENST00000275248.4_Missense_Mutation_p.W1619R	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1624					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCTGAGGCGTGGCGTGTGAT	0.403													False	0	True	6:157525014	0	C	157525014	T	C	157525014	3	2	88	1	0	0	0	0	1	0	0	0	916	1696	59	4	4983	4	ARID1B	6	157525014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2756	157525014	13590053	7742	15454											
ARID1B	57492	broad.mit.edu	37	chr6	157528312	157528312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagcaaagatgagtggTggtgggactgcctcgaggtc	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157528312T>C	ENST00000346085.5	+	20	6038	c.6037T>C	c.(6037-6039)Tgg>Cgg	p.W2013R	ARID1B_ENST00000350026.5_Missense_Mutation_p.W2000R|ARID1B_ENST00000367148.1_Missense_Mutation_p.W2053R|ARID1B_ENST00000275248.4_Missense_Mutation_p.W1995R	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2000					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGATGAGTGGTGGTGGGACTG	0.542													False	0	True	6:157528312	0	C	157528312	T	C	157528312	3	2	88	1	0	0	0	0	1	0	0	0	916	1696	59	4	6115	4	ARID1B	6	157528312	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3298	157528312	13586755	7743	15455											
SNX9	51429	broad.mit.edu	37	chr6	158349734	158349734	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggaagcgctgcacgggcCgtaagtccactcctcacagt	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158349734C>T	ENST00000392185.3	+	12	1459	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	430	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTGCACGGGCCGTAAGTCCAC	0.597													False	0	False	6:158349734	0	T	158349734	C	T	158349734	5	4	88	1	0	0	0	0	0	0	1	0	14989	666	23	1	1334	1	SNX9	6	158349734	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	821422	158349734	12765333	7744	15456											
SYNJ2	8871	broad.mit.edu	37	chr6	158495692	158495692	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatcttacttatgaagaagtCttctattttgttaaacgcca	6	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158495692C>T	ENST00000355585.4	+	16	2289	c.2214C>T	c.(2212-2214)gtC>gtT	p.V738V	SYNJ2_ENST00000367122.2_Silent_p.V738V|SYNJ2_ENST00000367121.3_Silent_p.V738V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	738							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGAAGAAGTCTTCTATTTTG	0.333													False	0	False	6:158495692	0	T	158495692	C	T	158495692	2	4	88	1	0	0	0	0	0	0	0	1	15535	900	32	2		2	SYNJ2	6	158495692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145958	158495692	12619375	7745	15457											
SYNJ2	8871	broad.mit.edu	37	chr6	158516726	158516726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggagacaagcgttgaggCccctcctgtcgtgacagccc	12	16	0	3	rs140216302		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158516726C>T	ENST00000355585.4	+	27	3896	c.3821C>T	c.(3820-3822)gCc>gTc	p.A1274V	SYNJ2_ENST00000367122.2_Missense_Mutation_p.A1229V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.A359V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1274	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGCGTTGAGGCCCCTCCTGTC	0.562													False	0	True	6:158516726	0	T	158516726	C	T	158516726	3	4	88	1	0	0	0	0	1	0	0	0	15535	739	26	2	3927	2	SYNJ2	6	158516726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21034	158516726	12598341	7746	15458											
SERAC1	84947	broad.mit.edu	37	chr6	158549279	158549279	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaggcctccatttgcttcGattttatcacaatgtgtgga	9	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158549279G>A	ENST00000367102.2	-	10	1017	c.876C>T	c.(874-876)atC>atT	p.I292I	SERAC1_ENST00000367104.3_Silent_p.I292I|SERAC1_ENST00000367101.1_Silent_p.I292I			Q96JX3	SRAC1_HUMAN	serine active site containing 1	292					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CATTTGCTTCGATTTTATCAC	0.433													False	0	False	6:158549279	0	A	158549279	G	A	158549279	2	1	88	1	0	0	0	0	0	0	0	1	14155	1048	37	1		1	SERAC1	6	158549279	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32553	158549279	12565788	7747	15459											
SERAC1	84947	broad.mit.edu	37	chr6	158564142	158564142	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagccaaagatgtaaaataCtggatacactcatctagctc	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158564142C>A	ENST00000367102.2	-	8	825	c.684G>T	c.(682-684)caG>caT	p.Q228H	SERAC1_ENST00000367104.3_Missense_Mutation_p.Q228H|SERAC1_ENST00000367101.1_Missense_Mutation_p.Q228H			Q96JX3	SRAC1_HUMAN	serine active site containing 1	228					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ATGTAAAATACTGGATACACT	0.393													False	0	False	6:158564142	0	A	158564142	C	A	158564142	3	1	88	1	0	0	0	0	1	0	0	0	14155	564	20	3	1320	3	SERAC1	6	158564142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14863	158564142	12550925	7748	15460											
SERAC1	84947	broad.mit.edu	37	chr6	158569911	158569911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttaccagcaaatggattcCgcagtatcttggctgatgtt	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158569911C>T	ENST00000367102.2	-	5	482	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	SERAC1_ENST00000367104.3_Missense_Mutation_p.R114Q|SERAC1_ENST00000367101.1_Missense_Mutation_p.R114Q|SERAC1_ENST00000607000.1_Missense_Mutation_p.R114Q			Q96JX3	SRAC1_HUMAN	serine active site containing 1	114					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AAATGGATTCCGCAGTATCTT	0.338													False	0	False	6:158569911	0	T	158569911	C	T	158569911	3	4	88	1	0	0	0	0	1	0	0	0	14155	652	23	1	1675	1	SERAC1	6	158569911	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5769	158569911	12545156	7749	15461											
SERAC1	84947	broad.mit.edu	37	chr6	158579383	158579383	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacagatgacgcaataagCagccagggacattctgtgta	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158579383C>T	ENST00000367102.2	-	2	154	c.13G>A	c.(13-15)Gct>Act	p.A5T	SERAC1_ENST00000367104.3_Missense_Mutation_p.A5T|SERAC1_ENST00000367101.1_Missense_Mutation_p.A5T|SERAC1_ENST00000607000.1_Missense_Mutation_p.A5T			Q96JX3	SRAC1_HUMAN	serine active site containing 1	5					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ACGCAATAAGCAGCCAGGGAC	0.378													False	0	False	6:158579383	0	T	158579383	C	T	158579383	3	4	88	1	0	0	0	0	1	0	0	0	14155	710	25	2	2015	2	SERAC1	6	158579383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9472	158579383	12535684	7750	15462											
TULP4	56995	broad.mit.edu	37	chr6	158735144	158735144	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtccccaagagtgagaaggaGaagcctgtgtgcaggagacg	16	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158735144G>A	ENST00000367097.3	+	1	1453	c.96G>A	c.(94-96)gaG>gaA	p.E32E	TULP4_ENST00000367094.2_Silent_p.E32E	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	32					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGAGAAGGAGAAGCCTGTGT	0.572													False	0	True	6:158735144	0	A	158735144	G	A	158735144	2	1	88	1	0	0	0	0	0	0	0	1	16860	933	33	2		2	TULP4	6	158735144	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155761	158735144	12379923	7751	15463											
TULP4	56995	broad.mit.edu	37	chr6	158870179	158870179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagcagcgagagcgacaCggactcagatgactacgccc	13	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158870179C>T	ENST00000367097.3	+	4	2052	c.695C>T	c.(694-696)aCg>aTg	p.T232M	TULP4_ENST00000367094.2_Missense_Mutation_p.T232M	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	232					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GAGAGCGACACGGACTCAGAT	0.577													False	0	False	6:158870179	0	T	158870179	C	T	158870179	3	4	88	1	0	0	0	0	1	0	0	0	16860	536	19	1	709	1	TULP4	6	158870179	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135035	158870179	12244888	7752	15464											
TULP4	56995	broad.mit.edu	37	chr6	158900854	158900854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcaggaccagccctgtaCgtggtgcgtgtggagcaccg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158900854C>T	ENST00000367097.3	+	7	2455	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	TULP4_ENST00000367094.2_Silent_p.Y366Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	366	SOCS box.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCCCTGTACGTGGTGCGTG	0.617													False	0	False	6:158900854	0	T	158900854	C	T	158900854	2	4	88	1	0	0	0	0	0	0	0	1	16860	547	19	1		1	TULP4	6	158900854	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30675	158900854	12214213	7753	15465											
TULP4	56995	broad.mit.edu	37	chr6	158923474	158923474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagctctgccaccttgaggCtcacggccactgagaagaag	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158923474C>T	ENST00000367097.3	+	13	4136	c.2779C>T	c.(2779-2781)Ctc>Ttc	p.L927F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	927					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CACCTTGAGGCTCACGGCCAC	0.687													False	0	False	6:158923474	0	T	158923474	C	T	158923474	3	4	88	1	0	0	0	0	1	0	0	0	16860	797	28	2	2829	2	TULP4	6	158923474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22620	158923474	12191593	7754	15466											
SYTL3	94120	broad.mit.edu	37	chr6	159084345	159084345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcaaggagttagaacgCgaggccattctccaggtcct	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159084345C>T	ENST00000297239.9	+	3	239	c.45C>T	c.(43-45)cgC>cgT	p.R15R	SYTL3_ENST00000360448.3_Silent_p.R15R|SYTL3_ENST00000367081.3_5'UTR			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	15	RabBD.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	p.R15R(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AGTTAGAACGCGAGGCCATTC	0.552													False	0	False	6:159084345	0	T	159084345	C	T	159084345	2	4	88	1	0	0	0	0	0	0	0	1	15566	755	27	1		1	SYTL3	6	159084345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160871	159084345	12030722	7755	15467											
SYTL3	94120	broad.mit.edu	37	chr6	159178308	159178308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgtggcatctgggcacGctggcccggagagtgtttct	16	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159178308G>A	ENST00000297239.9	+	13	1397	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	SYTL3_ENST00000360448.3_Silent_p.T333T|SYTL3_ENST00000367081.3_Silent_p.T127T			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	401	C2 1.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		ATCTGGGCACGCTGGCCCGGA	0.617													False	0	False	6:159178308	0	A	159178308	G	A	159178308	2	1	88	1	0	0	0	0	0	0	0	1	15566	1074	38	1		1	SYTL3	6	159178308	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93963	159178308	11936759	7756	15468											
SYTL3	94120	broad.mit.edu	37	chr6	159178373	159178373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtgggactttgaagacaGcacaacacagtccttccgct	9	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159178373G>A	ENST00000297239.9	+	13	1462	c.1268G>A	c.(1267-1269)aGc>aAc	p.S423N	SYTL3_ENST00000360448.3_Missense_Mutation_p.S355N|SYTL3_ENST00000367081.3_Missense_Mutation_p.S149N			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	423					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTTGAAGACAGCACAACACAG	0.557													False	0	False	6:159178373	0	A	159178373	G	A	159178373	3	1	88	1	0	0	0	0	1	0	0	0	15566	971	34	2	1098	2	SYTL3	6	159178373	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	159178373	11936694	7757	15469											
TAGAP	117289	broad.mit.edu	37	chr6	159456869	159456869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcctccctcctaaatatacGattctttggcatattggaat	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159456869G>A	ENST00000367066.3	-	10	2517	c.2186C>T	c.(2185-2187)tCg>tTg	p.S729L	TAGAP_ENST00000326965.6_Missense_Mutation_p.S551L|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	729					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTAAATATACGATTCTTTGGC	0.468													False	0	False	6:159456869	0	A	159456869	G	A	159456869	3	1	88	1	0	0	0	0	1	0	0	0	15619	1059	37	1	13	1	TAGAP	6	159456869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278496	159456869	11658198	7758	15470											
TAGAP	117289	broad.mit.edu	37	chr6	159456924	159456924	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggctggctacatcgtcGcacgagacagtcccgcttat	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159456924G>A	ENST00000367066.3	-	10	2462	c.2131C>T	c.(2131-2133)Cga>Tga	p.R711*	TAGAP_ENST00000326965.6_Nonsense_Mutation_p.R533*|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	711					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.R711*(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTACATCGTCGCACGAGACAG	0.572													False	0	False	6:159456924	0	A	159456924	G	A	159456924	4	1	88	1	0	0	0	0	0	1	0	0	15619	1095	38	1	68	1	TAGAP	6	159456924	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55	159456924	11658143	7759	15471											
TAGAP	117289	broad.mit.edu	37	chr6	159457286	159457286	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cataagagggtgggcttccaGgcctctcccagtcagctccc	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159457286G>T	ENST00000367066.3	-	10	2100	c.1769C>A	c.(1768-1770)cCt>cAt	p.P590H	TAGAP_ENST00000326965.6_Missense_Mutation_p.P412H|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	590					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGGGCTTCCAGGCCTCTCCCA	0.632													False	0	False	6:159457286	0	T	159457286	G	T	159457286	3	4	88	1	0	0	0	0	1	0	0	0	15619	1000	35	3	430	3	TAGAP	6	159457286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	362	159457286	11657781	7760	15472											
FNDC1	84624	broad.mit.edu	37	chr6	159642721	159642721	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgccctaacaaagcgaaaGatttcaggtatgtttctaag	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159642721G>T	ENST00000297267.9	+	6	959	c.759G>T	c.(757-759)aaG>aaT	p.K253N	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.K253N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	253						extracellular region		p.K253N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAAAGCGAAAGATTTCAGGTA	0.473													False	0	True	6:159642721	0	T	159642721	G	T	159642721	3	4	88	1	0	0	0	0	1	0	0	0	6008	933	33	3	781	3	FNDC1	6	159642721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185435	159642721	11472346	7761	15473											
FNDC1	84624	broad.mit.edu	37	chr6	159644586	159644586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgaattggatgtacctgacGacatcagcgtccgggttatg	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159644586G>A	ENST00000297267.9	+	7	993	c.793G>A	c.(793-795)Gac>Aac	p.D265N	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.D265N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	265	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGTACCTGACGACATCAGCGT	0.483													False	0	False	6:159644586	0	A	159644586	G	A	159644586	3	1	88	1	0	0	0	0	1	0	0	0	6008	1058	37	1	819	1	FNDC1	6	159644586	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1865	159644586	11470481	7762	15474											
FNDC1	84624	broad.mit.edu	37	chr6	159647514	159647514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattttgtagcccctaccaCagctcctgaaaacttgaacg	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159647514C>T	ENST00000297267.9	+	9	1282	c.1082C>T	c.(1081-1083)aCa>aTa	p.T361I	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.T361I	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	361	Fibronectin type-III 4.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCCTACCACAGCTCCTGAA	0.438													False	0	False	6:159647514	0	T	159647514	C	T	159647514	3	4	88	1	0	0	0	0	1	0	0	0	6008	478	17	2	1116	2	FNDC1	6	159647514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2928	159647514	11467553	7763	15475											
FNDC1	84624	broad.mit.edu	37	chr6	159653575	159653575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccccagccgccagtccccGtccagcgttctccgcgacag	9	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159653575G>A	ENST00000297267.9	+	11	2231	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	FNDC1_ENST00000340366.6_Silent_p.P614P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	677	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCAGTCCCCGTCCAGCGTTC	0.706													False	0	True	6:159653575	0	A	159653575	G	A	159653575	2	1	88	1	0	0	0	0	0	0	0	1	6008	1132	40	1		1	FNDC1	6	159653575	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6061	159653575	11461492	7764	15476											
FNDC1	84624	broad.mit.edu	37	chr6	159654115	159654115	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgactgtgccctcccgagcCcaccccagggttccctctca	8	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159654115C>A	ENST00000297267.9	+	11	2771	c.2571C>A	c.(2569-2571)gcC>gcA	p.A857A	FNDC1_ENST00000340366.6_Silent_p.A794A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	857						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCTCCCGAGCCCACCCCAGGG	0.622													False	0	True	6:159654115	0	A	159654115	C	A	159654115	2	1	88	1	0	0	0	0	0	0	0	1	6008	610	22	3		3	FNDC1	6	159654115	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	540	159654115	11460952	7765	15477											
FNDC1	84624	broad.mit.edu	37	chr6	159654596	159654596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtcccagcaccacccgGgaccccagagcagagacgcg	11	19	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159654596G>A	ENST00000297267.9	+	11	3252	c.3052G>A	c.(3052-3054)Gga>Aga	p.G1018R	FNDC1_ENST00000340366.6_Missense_Mutation_p.G955R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1018						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCACCACCCGGGACCCCAGAG	0.721													False	0	True	6:159654596	0	A	159654596	G	A	159654596	3	1	88	1	0	0	0	0	1	0	0	0	6008	1233	43	2	3094	2	FNDC1	6	159654596	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	481	159654596	11460471	7766	15478											
FNDC1	84624	broad.mit.edu	37	chr6	159672509	159672509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggccgtggaaggttgCcactcatttgtcattgtgga	15	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159672509C>T	ENST00000297267.9	+	17	5210	c.5010C>T	c.(5008-5010)tgC>tgT	p.C1670C	FNDC1_ENST00000340366.6_Silent_p.C1607C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1670	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGGAAGGTTGCCACTCATTTG	0.547													False	0	False	6:159672509	0	T	159672509	C	T	159672509	2	4	88	1	0	0	0	0	0	0	0	1	6008	747	26	2		2	FNDC1	6	159672509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17913	159672509	11442558	7767	15479											
FNDC1	84624	broad.mit.edu	37	chr6	159687142	159687142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctatctggatcccattcGctttcaaacatgatcccagc	6	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159687142G>A	ENST00000297267.9	+	21	5511	c.5311G>A	c.(5311-5313)Gct>Act	p.A1771T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A1708T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1771						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GATCCCATTCGCTTTCAAACA	0.483													False	0	False	6:159687142	0	A	159687142	G	A	159687142	3	1	88	1	0	0	0	0	1	0	0	0	6008	1087	38	1	5393	1	FNDC1	6	159687142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14633	159687142	11427925	7768	15480											
WTAP	9589	broad.mit.edu	37	chr6	160164713	160164713	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagctaatgatgtaactggCctaagagagtctgaagaaaa	10	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160164713C>A	ENST00000358372.4	+	5	1919	c.162C>A	c.(160-162)ggC>ggA	p.G54G	WTAP_ENST00000337387.4_Silent_p.G54G|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	54					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ATGTAACTGGCCTAAGAGAGT	0.368													False	0	False	6:160164713	0	A	160164713	C	A	160164713	2	1	88	1	0	0	0	0	0	0	0	1	17493	726	26	3		3	WTAP	6	160164713	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	477571	160164713	10950354	7769	15481											
PNLDC1	154197	broad.mit.edu	37	chr6	160225117	160225117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtatggcttcaactataaCaaggtatggcattggaggag	12	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160225117C>T	ENST00000610273.1	+	5	507	c.336C>T	c.(334-336)aaC>aaT	p.N112N	PNLDC1_ENST00000392167.3_Silent_p.N123N|PNLDC1_ENST00000609334.1_3'UTR	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCAACTATAACAAGGTATGGC	0.458													False	0	False	6:160225117	0	T	160225117	C	T	160225117	2	4	88	1	0	0	0	0	0	0	0	1	12217	477	17	2		2	PNLDC1	6	160225117	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60404	160225117	10889950	7770	15482											
PNLDC1	154197	broad.mit.edu	37	chr6	160238156	160238156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagttcttttgaaagtggCacacttgcttctacagaaga	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160238156C>T	ENST00000610273.1	+	15	1268	c.1097C>T	c.(1096-1098)gCa>gTa	p.A366V	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A377V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGAAAGTGGCACACTTGCTT	0.388													False	0	False	6:160238156	0	T	160238156	C	T	160238156	3	4	88	1	0	0	0	0	1	0	0	0	12217	710	25	2	1151	2	PNLDC1	6	160238156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13039	160238156	10876911	7771	15483											
PNLDC1	154197	broad.mit.edu	37	chr6	160240289	160240289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacttgttttggcagtgcGcggaacatcctgaaggagta	12	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160240289G>A	ENST00000610273.1	+	18	1575	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A	PNLDC1_ENST00000392167.3_Silent_p.A479A	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGGCAGTGCGCGGAACATCC	0.597													False	0	False	6:160240289	0	A	160240289	G	A	160240289	2	1	88	1	0	0	0	0	0	0	0	1	12217	1074	38	1		1	PNLDC1	6	160240289	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2133	160240289	10874778	7772	15484											
IGF2R	3482	broad.mit.edu	37	chr6	160455500	160455500	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attttggaggtgatgaatgcAgctcagggtttcagcggatg	15	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160455500A>C	ENST00000356956.1	+	10	1409	c.1261A>C	c.(1261-1263)Agc>Cgc	p.S421R		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	421					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGATGAATGCAGCTCAGGGTT	0.443													False	0	False	6:160455500	0	C	160455500	A	C	160455500	3	2	88	1	0	0	0	0	1	0	0	0	7626	188	7	4	1299	4	IGF2R	6	160455500	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	215211	160455500	10659567	7773	15485											
IGF2R	3482	broad.mit.edu	37	chr6	160480049	160480049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaattggaagccagcaaggCcagtcggaattgagaaaagc	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160480049C>T	ENST00000356956.1	+	22	3158	c.3010C>T	c.(3010-3012)Cca>Tca	p.P1004S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1004					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCCAGCAAGGCCAGTCGGAAT	0.537													False	0	False	6:160480049	0	T	160480049	C	T	160480049	3	4	88	1	0	0	0	0	1	0	0	0	7626	739	26	2	3096	2	IGF2R	6	160480049	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24549	160480049	10635018	7774	15486											
IGF2R	3482	broad.mit.edu	37	chr6	160493851	160493851	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggattcacagctgcttAcagcgagaaggggttggttt	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160493851A>G	ENST00000356956.1	+	33	4773	c.4625A>G	c.(4624-4626)tAc>tGc	p.Y1542C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1542					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ACAGCTGCTTACAGCGAGAAG	0.547													False	0	False	6:160493851	0	G	160493851	A	G	160493851	3	3	88	1	0	0	0	0	1	0	0	0	7626	391	14	4	4755	4	IGF2R	6	160493851	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13802	160493851	10621216	7775	15487											
IGF2R	3482	broad.mit.edu	37	chr6	160494321	160494321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtggaccaggtcctgcaGctggtgtacaaggatgggtc	15	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160494321G>A	ENST00000356956.1	+	34	4915	c.4767G>A	c.(4765-4767)caG>caA	p.Q1589Q		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1589					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGTCCTGCAGCTGGTGTACA	0.577													False	0	False	6:160494321	0	A	160494321	G	A	160494321	2	1	88	1	0	0	0	0	0	0	0	1	7626	962	34	2		2	IGF2R	6	160494321	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	470	160494321	10620746	7776	15488											
IGF2R	3482	broad.mit.edu	37	chr6	160497015	160497015	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catcgcgtttcactgtaagaGaggtgtgagcatggtaagtg	14	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160497015G>A	ENST00000356956.1	+	36	5451	c.5303G>A	c.(5302-5304)aGa>aAa	p.R1768K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1768					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CACTGTAAGAGAGGTGTGAGC	0.473													False	0	True	6:160497015	0	A	160497015	G	A	160497015	3	1	88	1	0	0	0	0	1	0	0	0	7626	942	33	2	5445	2	IGF2R	6	160497015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2694	160497015	10618052	7777	15489											
SLC22A2	6582	broad.mit.edu	37	chr6	160679678	160679678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggaagacgatgcccaCgtagatgggcgcgaaggtag	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160679678C>T	ENST00000366952.1	-	3	1530	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	SLC22A2_ENST00000366953.3_Missense_Mutation_p.V38M|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	38					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ACGATGCCCACGTAGATGGGC	0.607													False	0	False	6:160679678	0	T	160679678	C	T	160679678	3	4	88	1	0	0	0	0	1	0	0	0	14531	536	19	1	1599	1	SLC22A2	6	160679678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182663	160679678	10435389	7778	15490											
SLC22A3	6581	broad.mit.edu	37	chr6	160831795	160831795	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccccgttggctgattactCggaagaaaggagataaagca	11	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160831795C>T	ENST00000392145.1	+	5	919	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	SLC22A3_ENST00000275300.2_Missense_Mutation_p.R298W			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	298						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GCTGATTACTCGGAAGAAAGG	0.428													False	0	False	6:160831795	0	T	160831795	C	T	160831795	3	4	88	1	0	0	0	0	1	0	0	0	14535	875	31	1	910	1	SLC22A3	6	160831795	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152117	160831795	10283272	7779	15491											
SLC22A3	6581	broad.mit.edu	37	chr6	160858179	160858179	+	Silent	SNP	C	C	T													gagcgccttggacgacgcctCccctttgcggcaagcaatat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160858179C>T	ENST00000392145.1	+	7	1251	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	SLC22A3_ENST00000275300.2_Silent_p.L408L			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	408						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GACGACGCCTCCCCTTTGCGG	0.522													False	0	True	6:160858179	0	T	160858179	C	T	160858179	2	4	88	1	0	0	0	0	0	0	0	1	14535	842	30	2		2	SLC22A3	6	160858179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26384	160858179	10256888	7780	15492	193	2									
SLC22A3	6581	broad.mit.edu	37	chr6	160858187	160858187	+	Missense_Mutation	SNP	C	C	T													tggacgacgcctcccctttgCggcaagcaatatagtggcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160858187C>T	ENST00000392145.1	+	7	1259	c.1232C>T	c.(1231-1233)gCg>gTg	p.A411V	SLC22A3_ENST00000275300.2_Missense_Mutation_p.A411V			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	411						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CTCCCCTTTGCGGCAAGCAAT	0.502													False	0	False	6:160858187	0	T	160858187	C	T	160858187	3	4	88	1	0	0	0	0	1	0	0	0	14535	768	27	1	1258	1	SLC22A3	6	160858187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	160858187	10256880	7781	15493	193	2									
LPA	4018	broad.mit.edu	37	chr6	160953597	160953597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctctggccaaatgctcaGcacaaatatacttatagtga	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160953597G>A	ENST00000447678.1	-	39	6047	c.5927C>T	c.(5926-5928)gCt>gTt	p.A1976V	LPA_ENST00000316300.5_Missense_Mutation_p.A1976V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4484	Kringle 18.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAATGCTCAGCACAAATATA	0.443													False	0	False	6:160953597	0	A	160953597	G	A	160953597	3	1	88	1	0	0	0	0	1	0	0	0	8965	971	34	2	203	2	LPA	6	160953597	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95410	160953597	10161470	7782	15494											
LPA	4018	broad.mit.edu	37	chr6	161012086	161012086	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatccatggtataacaccaaGgactaatctcagcatctgga	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161012086G>T	ENST00000447678.1	-	24	3797	c.3677C>A	c.(3676-3678)cCt>cAt	p.P1226H	LPA_ENST00000316300.5_Missense_Mutation_p.P1226H	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3734	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAACACCAAGGACTAATCTC	0.478													False	0	False	6:161012086	0	T	161012086	G	T	161012086	3	4	88	1	0	0	0	0	1	0	0	0	8965	1000	35	3	2513	3	LPA	6	161012086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58489	161012086	10102981	7783	15495											
LPA	4018	broad.mit.edu	37	chr6	161015074	161015074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtccttcctgtgacagtgGtagagaatgagcctcgataa	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161015074G>A	ENST00000447678.1	-	23	3665	c.3545C>T	c.(3544-3546)aCc>aTc	p.T1182I	LPA_ENST00000316300.5_Missense_Mutation_p.T1182I	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3690	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTGACAGTGGTAGAGAATGA	0.473													False	0	False	6:161015074	0	A	161015074	G	A	161015074	3	1	88	1	0	0	0	0	1	0	0	0	8965	1261	44	2	2649	2	LPA	6	161015074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2988	161015074	10099993	7784	15496											
MAP3K4	4216	broad.mit.edu	37	chr6	161470912	161470912	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtagacaaagcactgaagcaGatggggttaagaaagttaat	12	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161470912G>A	ENST00000392142.4	+	3	1756	c.1608G>A	c.(1606-1608)caG>caA	p.Q536Q	MAP3K4_ENST00000366920.2_Silent_p.Q536Q|MAP3K4_ENST00000366919.2_Silent_p.Q536Q|MAP3K4_ENST00000348824.7_Silent_p.Q536Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	536					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CACTGAAGCAGATGGGGTTAA	0.443													False	0	False	6:161470912	0	A	161470912	G	A	161470912	2	1	88	1	0	0	0	0	0	0	0	1	9319	933	33	2		2	MAP3K4	6	161470912	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	455838	161470912	9644155	7785	15497											
MAP3K4	4216	broad.mit.edu	37	chr6	161505595	161505595	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatttggcttacaggagaGctgtgctgaattttggacta	12	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161505595G>T	ENST00000392142.4	+	7	2466	c.2318G>T	c.(2317-2319)aGc>aTc	p.S773I	MAP3K4_ENST00000366920.2_Missense_Mutation_p.S773I|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S773I|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S773I	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	773					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTACAGGAGAGCTGTGCTGAA	0.408													False	0	False	6:161505595	0	T	161505595	G	T	161505595	3	4	88	1	0	0	0	0	1	0	0	0	9319	971	34	3	2344	3	MAP3K4	6	161505595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34683	161505595	9609472	7786	15498											
MAP3K4	4216	broad.mit.edu	37	chr6	161518151	161518151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtcctatgaaggtacctcGatgccatagtgaccctccta	8	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161518151G>A	ENST00000392142.4	+	16	3615	c.3467G>A	c.(3466-3468)cGa>cAa	p.R1156Q	MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1152Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1156Q|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1152Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1156					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.R1156Q(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAGGTACCTCGATGCCATAGT	0.468													False	0	False	6:161518151	0	A	161518151	G	A	161518151	3	1	88	1	0	0	0	0	1	0	0	0	9319	1058	37	1	3529	1	MAP3K4	6	161518151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12556	161518151	9596916	7787	15499											
AGPAT4	56895	broad.mit.edu	37	chr6	161560502	161560502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtcagggaagacccgcTcctgatcatgctgaccagga	12	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161560502T>C	ENST00000320285.4	-	8	1206	c.994A>G	c.(994-996)Agc>Ggc	p.S332G	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.S170G	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	332					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GAAGACCCGCTCCTGATCATG	0.632													False	0	False	6:161560502	0	C	161560502	T	C	161560502	3	2	88	1	0	0	0	0	1	0	0	0	389	1551	54	4	150	4	AGPAT4	6	161560502	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42351	161560502	9554565	7788	15500											
AGPAT4	56895	broad.mit.edu	37	chr6	161575237	161575237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actggtggcaaccgtcttgcGatcctgctcccacttgcgcg	11	15	1	0	rs143406726		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161575237G>A	ENST00000320285.4	-	4	666	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	AGPAT4_ENST00000366911.5_Missense_Mutation_p.S95L|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366906.5_Missense_Mutation_p.R90C	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	152					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ACCGTCTTGCGATCCTGCTCC	0.562													False	0	False	6:161575237	0	A	161575237	G	A	161575237	3	1	88	1	0	0	0	0	1	0	0	0	389	1058	37	1	706	1	AGPAT4	6	161575237	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14735	161575237	9539830	7789	15501											
AGPAT4	56895	broad.mit.edu	37	chr6	161653106	161653106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtctgcagttgatcttcCggaagagctgcttgttaatg	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161653106C>T	ENST00000320285.4	-	2	352	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	AGPAT4_ENST00000366905.3_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366911.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366908.5_Missense_Mutation_p.R47Q|AGPAT4_ENST00000457520.2_Missense_Mutation_p.R47Q|AGPAT4_ENST00000366906.5_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	47					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GTTGATCTTCCGGAAGAGCTG	0.448													False	0	False	6:161653106	0	T	161653106	C	T	161653106	3	4	88	1	0	0	0	0	1	0	0	0	389	652	23	1	1028	1	AGPAT4	6	161653106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77869	161653106	9461961	7790	15502											
PARK2	5071	broad.mit.edu	37	chr6	162394349	162394349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacctgacgtctgtgcacGtaatgcaagtgatgttccga	10	10	1	2	rs137853054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162394349G>A	ENST00000366898.1	-	6	821	c.719C>T	c.(718-720)aCg>aTg	p.T240M	PARK2_ENST00000366897.1_Missense_Mutation_p.T212M|PARK2_ENST00000366896.1_Missense_Mutation_p.T91M|PARK2_ENST00000366892.1_Missense_Mutation_p.T240M|PARK2_ENST00000338468.3_Missense_Mutation_p.T49M|PARK2_ENST00000366894.1_Missense_Mutation_p.T49M	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	240			T -> M (in PARK; late onset).|T -> R (in PARK2; impairs the ability to ubiquitinate SNCAIP and BCL2; loss of UBE2L3 binding; severely compromises the mitochondrial localization).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.T240M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCTGTGCACGTAATGCAAGT	0.448													False	0	False	6:162394349	0	A	162394349	G	A	162394349	3	1	88	1	0	0	0	0	1	0	0	0	11517	1145	40	1	706	1	PARK2	6	162394349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	741243	162394349	8720718	7791	15503											
PARK2	5071	broad.mit.edu	37	chr6	162622162	162622162	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgacactgcatttccttaCctgggtcaaggtgagcgttg	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162622162C>T	ENST00000366898.1	-	4	637		c.e4+1		PARK2_ENST00000366897.1_Splice_Site|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366892.1_Splice_Site|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366894.1_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase						aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CATTTCCTTACCTGGGTCAAG	0.468													False	0	False	6:162622162	0	T	162622162	C	T	162622162	5	4	88	1	0	0	0	0	0	0	1	0	11517	521	18	2	898	2	PARK2	6	162622162	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227813	162622162	8492905	7792	15504											
PACRG	135138	broad.mit.edu	37	chr6	163510351	163510351	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaggtcctccagcatcTggttgtgtcagctgagatgg	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:163510351T>G	ENST00000337019.3	+	5	748	c.524T>G	c.(523-525)cTg>cGg	p.L175R	PACRG_ENST00000366888.2_Missense_Mutation_p.L175R|PACRG_ENST00000366889.2_Missense_Mutation_p.L175R	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	175										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CTCCAGCATCTGGTTGTGTCA	0.458													False	0	False	6:163510351	0	G	163510351	T	G	163510351	3	3	88	1	0	0	0	0	1	0	0	0	11438	1580	55	4	538	4	PACRG	6	163510351	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	888189	163510351	7604716	7793	15505											
QKI	9444	broad.mit.edu	37	chr6	163836318	163836318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagctcatgagcagcctGcccaacttctgcgggatctt	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:163836318G>A	ENST00000361752.3	+	1	644	c.93G>A	c.(91-93)ctG>ctA	p.L31L	QKI_ENST00000361195.2_Silent_p.L31L|QKI_ENST00000424802.3_Silent_p.L31L|QKI_ENST00000392127.2_Silent_p.L31L|QKI_ENST00000275262.7_Silent_p.L31L|QKI_ENST00000453779.2_Silent_p.L31L	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	31					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	p.L31L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGAGCAGCCTGCCCAACTTCT	0.642													False	0	True	6:163836318	0	A	163836318	G	A	163836318	2	1	88	1	0	0	0	0	0	0	0	1	12952	1306	46	2		2	QKI	6	163836318	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	325967	163836318	7278749	7794	15506											
C6orf118	168090	broad.mit.edu	37	chr6	165715084	165715084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctttctctcgtggcccgCggccgccttgctcccagtga	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715084C>T	ENST00000543069.1	-	2	996	c.415G>A	c.(415-417)Gcg>Acg	p.A139T	C6orf118_ENST00000230301.8_Missense_Mutation_p.A243T			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	243										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCGTGGCCCGCGGCCGCCTTG	0.607													False	0	False	6:165715084	0	T	165715084	C	T	165715084	3	4	88	1	0	0	0	0	1	0	0	0	2340	768	27	1	714	1	C6orf118	6	165715084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1878766	165715084	5399983	7795	15507											
C6orf118	168090	broad.mit.edu	37	chr6	165715502	165715502	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccagggcctccttcatcctCgccaccttccctgcgggcgg	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715502C>T	ENST00000230301.8	-	2	329	c.309G>A	c.(307-309)gcG>gcA	p.A103A	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	103										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTTCATCCTCGCCACCTTCC	0.682													False	0	False	6:165715502	0	T	165715502	C	T	165715502	2	4	88	1	0	0	0	0	0	0	0	1	2340	871	31	1		1	C6orf118	6	165715502	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418	165715502	5399565	7796	15508											
C6orf118	168090	broad.mit.edu	37	chr6	165715758	165715758	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagggtcttcacgcctggcGtctcgcagtgcttccacttc	10	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715758G>A	ENST00000543069.1	-	0	322				C6orf118_ENST00000230301.8_Missense_Mutation_p.T18M			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118									p.T18M(2)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CACGCCTGGCGTCTCGCAGTG	0.512													False	0	False	6:165715758	0	A	165715758	G	A	165715758	1	1	88	1	0	0	0	0	0	0	0	0	2340	1145	40	1		1	C6orf118	6	165715758	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256	165715758	5399309	7797	15509											
PDE10A	10846	broad.mit.edu	37	chr6	165749634	165749634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatgctttcagaagaggctCcgtgggagggaggatctggg	18	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165749634C>T	ENST00000366882.1	-	22	2369	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	PDE10A_ENST00000354448.4_Missense_Mutation_p.E739K|PDE10A_ENST00000539869.2_Missense_Mutation_p.E749K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	739					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGAAGAGGCTCCGTGGGAGGG	0.463													False	0	False	6:165749634	0	T	165749634	C	T	165749634	3	4	88	1	0	0	0	0	1	0	0	0	11698	864	30	2	132	2	PDE10A	6	165749634	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33876	165749634	5365433	7798	15510											
PDE10A	10846	broad.mit.edu	37	chr6	165792768	165792768	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccaaagtataaagcaaggtCtgtggcaatgatggctttgc	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165792768C>A	ENST00000366882.1	-	19	2024	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	PDE10A_ENST00000354448.4_Missense_Mutation_p.D624Y|PDE10A_ENST00000539869.2_Missense_Mutation_p.D634Y			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	624					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AAAGCAAGGTCTGTGGCAATG	0.403													False	0	False	6:165792768	0	A	165792768	C	A	165792768	3	1	88	1	0	0	0	0	1	0	0	0	11698	913	32	3	489	3	PDE10A	6	165792768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43134	165792768	5322299	7799	15511											
PDE10A	10846	broad.mit.edu	37	chr6	165809938	165809938	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcactctgagtggcgaattCtatgatacatctagaaggca	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165809938C>T	ENST00000366882.1	-	15	1413	c.1259G>A	c.(1258-1260)aGa>aAa	p.R420K	PDE10A_ENST00000354448.4_Missense_Mutation_p.R420K|PDE10A_ENST00000539869.2_Missense_Mutation_p.R430K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	420					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.R420K(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTGGCGAATTCTATGATACAT	0.373													False	0	False	6:165809938	0	T	165809938	C	T	165809938	3	4	88	1	0	0	0	0	1	0	0	0	11698	913	32	2	1116	2	PDE10A	6	165809938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17170	165809938	5305129	7800	15512											
T	6862	broad.mit.edu	37	chr6	166580185	166580185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtcggggtggatgtagacGcagctgggcgcctgcggctc	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166580185G>A	ENST00000296946.2	-	3	834	c.366C>T	c.(364-366)tgC>tgT	p.C122C	T_ENST00000366871.3_Silent_p.C122C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	122					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGATGTAGACGCAGCTGGGCG	0.652									Chordoma, Familial Clustering of				False	0	False	6:166580185	0	A	166580185	G	A	166580185	2	1	88	1	0	0	0	0	0	0	0	1	15570	1079	38	1		1	T	6	166580185	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	770247	166580185	4534882	7801	15513											
RPS6KA2	6196	broad.mit.edu	37	chr6	166827296	166827296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtaccttcaccaggtgcaCgtcctgtcggctgagctggt	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166827296C>T	ENST00000510118.1	-	22	2477	c.2137G>A	c.(2137-2139)Gtg>Atg	p.V713M	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.V599M|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.V599M|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.V688M|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.V696M			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	688					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACCAGGTGCACGTCCTGTCGG	0.577													False	0	False	6:166827296	0	T	166827296	C	T	166827296	3	4	88	1	0	0	0	0	1	0	0	0	13730	536	19	1	147	1	RPS6KA2	6	166827296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	247111	166827296	4287771	7802	15514											
RPS6KA2	6196	broad.mit.edu	37	chr6	166864717	166864717	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactcggggggacgccaggAgagtctgtaggtgacagggg	20	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166864717A>C	ENST00000510118.1	-	15	1495	c.1155T>G	c.(1153-1155)tcT>tcG	p.S385S	RPS6KA2_ENST00000481261.2_Silent_p.S271S|RPS6KA2_ENST00000405189.3_Silent_p.S271S|RPS6KA2_ENST00000265678.4_Silent_p.S360S|RPS6KA2_ENST00000503859.1_Silent_p.S368S			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	360	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGACGCCAGGAGAGTCTGTAG	0.552													False	0	False	6:166864717	0	C	166864717	A	C	166864717	2	2	88	1	0	0	0	0	0	0	0	1	13730	291	11	4		4	RPS6KA2	6	166864717	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37421	166864717	4250350	7803	15515											
RPS6KA2	6196	broad.mit.edu	37	chr6	166902391	166902391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccccactgaggaactgCggcatccccagcttggctct	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166902391C>T	ENST00000510118.1	-	12	1252	c.912G>A	c.(910-912)ccG>ccA	p.P304P	RPS6KA2_ENST00000481261.2_Silent_p.P190P|RPS6KA2_ENST00000366863.2_Silent_p.P125P|RPS6KA2_ENST00000405189.3_Silent_p.P190P|RPS6KA2_ENST00000265678.4_Silent_p.P279P|RPS6KA2_ENST00000503859.1_Silent_p.P287P			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	279	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P287P(1)|p.P279P(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGAGGAACTGCGGCATCCCCA	0.537													False	0	False	6:166902391	0	T	166902391	C	T	166902391	2	4	88	1	0	0	0	0	0	0	0	1	13730	755	27	1		1	RPS6KA2	6	166902391	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37674	166902391	4212676	7804	15516											
RPS6KA2	6196	broad.mit.edu	37	chr6	166912074	166912074	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctcgggcgccatgtactcGatcgtcccgcagaaggagta	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166912074G>A	ENST00000510118.1	-	10	1084	c.744C>T	c.(742-744)atC>atT	p.I248I	RPS6KA2_ENST00000481261.2_Silent_p.I134I|RPS6KA2_ENST00000366863.2_Silent_p.I69I|RPS6KA2_ENST00000405189.3_Silent_p.I134I|RPS6KA2_ENST00000265678.4_Silent_p.I223I|RPS6KA2_ENST00000503859.1_Silent_p.I231I			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	223	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCATGTACTCGATCGTCCCGC	0.597													False	0	False	6:166912074	0	A	166912074	G	A	166912074	2	1	88	1	0	0	0	0	0	0	0	1	13730	1048	37	1		1	RPS6KA2	6	166912074	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9683	166912074	4202993	7805	15517											
RNASET2	8635	broad.mit.edu	37	chr6	167344532	167344532	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaaacataactgtctaacCtggcttggtggaaggcactg	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167344532C>A	ENST00000366855.6	-	9	1128	c.453G>T	c.(451-453)caG>caT	p.Q151H	RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000508775.1_Splice_Site_p.Q189H|RNASET2_ENST00000476238.2_Splice_Site_p.Q189H			O00584	RNT2_HUMAN	ribonuclease T2	189					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		ACTGTCTAACCTGGCTTGGTG	0.418													False	0	False	6:167344532	0	A	167344532	C	A	167344532	5	1	88	1	0	0	0	0	0	0	1	0	13497	695	24	3	211	3	RNASET2	6	167344532	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	432458	167344532	3770535	7806	15518											
FGFR1OP	11116	broad.mit.edu	37	chr6	167416734	167416734	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtttttaaataccaaagaCggtaagatgttcagtttgtt	8	4	1	2	rs146065090	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167416734C>T	ENST00000366847.4	+	3	441	c.210C>T	c.(208-210)gaC>gaT	p.D70D	RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000476078.1_3'UTR|FGFR1OP_ENST00000349556.4_Splice_Site_p.D70D	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner		LisH.				G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		ATACCAAAGACGGTAAGATGT	0.294			T	FGFR1	"MPD, NHL"								False	0	False	6:167416734	0	T	167416734	C	T	167416734	5	4	88	1	0	0	0	0	0	0	1	0	5904	550	19	1	220	1	FGFR1OP	6	167416734	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72202	167416734	3698333	7807	15519											
CCR6	1235	broad.mit.edu	37	chr6	167550300	167550300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatacaacacccaaggcagCgatgtctgtgaacccaagta	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167550300C>T	ENST00000341935.5	+	3	1134	c.582C>T	c.(580-582)agC>agT	p.S194S	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.S194S|CCR6_ENST00000349984.4_Silent_p.S194S	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	194					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CCCAAGGCAGCGATGTCTGTG	0.493													False	0	False	6:167550300	0	T	167550300	C	T	167550300	2	4	88	1	0	0	0	0	0	0	0	1	2968	767	27	1		1	CCR6	6	167550300	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133566	167550300	3564767	7808	15520											
UNC93A	54346	broad.mit.edu	37	chr6	167708179	167708179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgtgggcaacttcttcGccagctggtacgcagccacc	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167708179G>A	ENST00000230256.3	+	2	437	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.A88T	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	88						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CAACTTCTTCGCCAGCTGGTA	0.617													False	0	False	6:167708179	0	A	167708179	G	A	167708179	3	1	88	1	0	0	0	0	1	0	0	0	17080	1087	38	1	268	1	UNC93A	6	167708179	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157879	167708179	3406888	7809	15521											
MLLT4	4301	broad.mit.edu	37	chr6	168299002	168299002	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggaaggccagcgcatctcaGaaaccaccatgctgcagagt	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168299002G>T	ENST00000366806.2	+	11	1577	c.1435G>T	c.(1435-1437)Gaa>Taa	p.E479*	MLLT4_ENST00000344191.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.E479*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.E463*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.E479*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.E478*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.E479*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	479	FHA.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCGCATCTCAGAAACCACCAT	0.517			T	MLL	AL								False	0	True	6:168299002	0	T	168299002	G	T	168299002	4	4	88	1	0	0	0	0	0	1	0	0	9696	943	33	3	1477	3	MLLT4	6	168299002	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	590823	168299002	2816065	7810	15522											
MLLT4	4301	broad.mit.edu	37	chr6	168312006	168312006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattataaattatactaataGctctacagtccactttaagt	3	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168312006G>T	ENST00000366806.2	+	15	2016	c.1874G>T	c.(1873-1875)aGc>aTc	p.S625I	MLLT4_ENST00000344191.4_Missense_Mutation_p.S625I|MLLT4_ENST00000351017.4_Missense_Mutation_p.S625I|MLLT4_ENST00000392112.1_Missense_Mutation_p.S609I|MLLT4_ENST00000392108.3_Missense_Mutation_p.S625I|MLLT4_ENST00000400822.3_Missense_Mutation_p.S624I|MLLT4_ENST00000447894.2_Missense_Mutation_p.S625I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	625					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TATACTAATAGCTCTACAGTC	0.348			T	MLL	AL								False	0	False	6:168312006	0	T	168312006	G	T	168312006	3	4	88	1	0	0	0	0	1	0	0	0	9696	971	34	3	1932	3	MLLT4	6	168312006	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13004	168312006	2803061	7811	15523											
MLLT4	4301	broad.mit.edu	37	chr6	168352003	168352003	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcactggactccagtacCtctagccaggagcatctgaa	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168352003C>A	ENST00000366806.2	+	30	4090	c.3948C>A	c.(3946-3948)acC>acA	p.T1316T	MLLT4_ENST00000344191.4_Silent_p.T1316T|MLLT4_ENST00000351017.4_Silent_p.T1323T|MLLT4_ENST00000392112.1_Silent_p.T1299T|MLLT4_ENST00000392108.3_Silent_p.T1316T|MLLT4_ENST00000400822.3_Silent_p.T1315T|MLLT4_ENST00000447894.2_Silent_p.T1316T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1316					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACTCCAGTACCTCTAGCCAGG	0.512			T	MLL	AL								False	0	False	6:168352003	0	A	168352003	C	A	168352003	2	1	88	1	0	0	0	0	0	0	0	1	9696	668	24	3		3	MLLT4	6	168352003	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39997	168352003	2763064	7812	15524											
MLLT4	4301	broad.mit.edu	37	chr6	168363200	168363200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgaggcaagaggaagagCgccggcggcaggaggaggag	22	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168363200C>T	ENST00000366806.2	+	31	5042	c.4900C>T	c.(4900-4902)Cgc>Tgc	p.R1634C	MLLT4_ENST00000344191.4_Missense_Mutation_p.R1646C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1641C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1617C|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1632C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1644C|MLLT4_ENST00000447894.2_Missense_Mutation_p.R1634C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1634					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.R1634C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAGGAAGAGCGCCGGCGGCA	0.547			T	MLL	AL								False	0	False	6:168363200	0	T	168363200	C	T	168363200	3	4	88	1	0	0	0	0	1	0	0	0	9696	768	27	1	5130	1	MLLT4	6	168363200	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11197	168363200	2751867	7813	15525											
FRMD1	79981	broad.mit.edu	37	chr6	168461613	168461613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggaactgccgtggctgtcGgcggagtggcgtgagaggca	19	8	0	1	rs143590279		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168461613G>A	ENST00000283309.6	-	9	1234	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Silent_p.A161A|FRMD1_ENST00000440994.2_Silent_p.A322A	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	390						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CGTGGCTGTCGGCGGAGTGGC	0.642													False	0	False	6:168461613	0	A	168461613	G	A	168461613	2	1	88	1	0	0	0	0	0	0	0	1	6091	1103	39	1		1	FRMD1	6	168461613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98413	168461613	2653454	7814	15526											
FRMD1	79981	broad.mit.edu	37	chr6	168465674	168465674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcttcctcccggtgagcGcactgtgacctcagcacgcg	12	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168465674G>A	ENST00000283309.6	-	5	589	c.525C>T	c.(523-525)tgC>tgT	p.C175C	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000440994.2_Silent_p.C107C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	175	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCCGGTGAGCGCACTGTGACC	0.667													False	0	False	6:168465674	0	A	168465674	G	A	168465674	2	1	88	1	0	0	0	0	0	0	0	1	6091	1079	38	1		1	FRMD1	6	168465674	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4061	168465674	2649393	7815	15527											
FRMD1	79981	broad.mit.edu	37	chr6	168479680	168479680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactgcatgcaggcctctcaGgactgggttccatacatcgc	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168479680G>T	ENST00000283309.6	-	1	159	c.95C>A	c.(94-96)cCt>cAt	p.P32H		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	32						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGGCCTCTCAGGACTGGGTTC	0.657													False	0	False	6:168479680	0	T	168479680	G	T	168479680	3	4	88	1	0	0	0	0	1	0	0	0	6091	1000	35	3	1611	3	FRMD1	6	168479680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14006	168479680	2635387	7816	15528											
SMOC2	64094	broad.mit.edu	37	chr6	168949822	168949822	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagatattgcatcacgTtaccctaccctttggactga	6	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168949822T>C	ENST00000354536.5	+	7	829	c.609T>C	c.(607-609)cgT>cgC	p.R203R	SMOC2_ENST00000356284.2_Silent_p.R192R	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	192					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TTGCATCACGTTACCCTACCC	0.393													False	0	True	6:168949822	0	C	168949822	T	C	168949822	2	2	88	1	0	0	0	0	0	0	0	1	14882	1712	60	4		4	SMOC2	6	168949822	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	470142	168949822	2165245	7817	15529											
THBS2	7058	broad.mit.edu	37	chr6	169623504	169623504	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcattgttttcaggacacAcatcatcaatatctgggatg	9	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169623504A>C	ENST00000366787.3	-	19	3089	c.2840T>G	c.(2839-2841)gTg>gGg	p.V947G	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	947					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCAGGACACACATCATCAAT	0.428													False	0	True	6:169623504	0	C	169623504	A	C	169623504	3	2	88	1	0	0	0	0	1	0	0	0	15936	159	6	4	698	4	THBS2	6	169623504	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	673682	169623504	1491563	7818	15530											
THBS2	7058	broad.mit.edu	37	chr6	169625342	169625342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacaggcgtcgccctggcCgtctctgtcatggtcagcct	12	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169625342C>T	ENST00000366787.3	-	18	2920	c.2671G>A	c.(2671-2673)Ggc>Agc	p.G891S	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	891					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		tcgccctggccgtctctgtca	0.582													False	0	False	6:169625342	0	T	169625342	C	T	169625342	3	4	88	1	0	0	0	0	1	0	0	0	15936	652	23	1	871	1	THBS2	6	169625342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1838	169625342	1489725	7819	15531											
THBS2	7058	broad.mit.edu	37	chr6	169632084	169632084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgcctcaccttgatgcaGtggtaggtggcgttggtggc	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632084G>A	ENST00000366787.3	-	14	2391	c.2142C>T	c.(2140-2142)caC>caT	p.H714H	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	714					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCTTGATGCAGTGGTAGGTGG	0.726													False	0	False	6:169632084	0	A	169632084	G	A	169632084	2	1	88	1	0	0	0	0	0	0	0	1	15936	1020	36	2		2	THBS2	6	169632084	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6742	169632084	1482983	7820	15532											
THBS2	7058	broad.mit.edu	37	chr6	169632164	169632164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctccccgcagatgagccCgtcgcccgcgtagcctgtct	11	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632164C>T	ENST00000366787.3	-	14	2311	c.2062G>A	c.(2062-2064)Ggg>Agg	p.G688R	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	688	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAGATGAGCCCGTCGCCCGCG	0.637													False	0	True	6:169632164	0	T	169632164	C	T	169632164	3	4	88	1	0	0	0	0	1	0	0	0	15936	652	23	1	1496	1	THBS2	6	169632164	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	169632164	1482903	7821	15533											
THBS2	7058	broad.mit.edu	37	chr6	169632237	169632237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccaggtagatgcactcCgcgtgcttgtggcagttgtg	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632237C>T	ENST00000366787.3	-	14	2238	c.1989G>A	c.(1987-1989)gcG>gcA	p.A663A	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	663	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGATGCACTCCGCGTGCTTGT	0.627													False	0	False	6:169632237	0	T	169632237	C	T	169632237	2	4	88	1	0	0	0	0	0	0	0	1	15936	639	23	1		1	THBS2	6	169632237	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	169632237	1482830	7822	15534											
THBS2	7058	broad.mit.edu	37	chr6	169634946	169634946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcgctcccggatcccacCggcacaggtgacagtgcagg	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169634946C>T	ENST00000366787.3	-	11	1783	c.1534G>A	c.(1534-1536)Ggt>Agt	p.G512S	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	512	TSP type-1 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGGATCCCACCGGCACAGGTG	0.677													False	0	False	6:169634946	0	T	169634946	C	T	169634946	3	4	88	1	0	0	0	0	1	0	0	0	15936	652	23	1	2036	1	THBS2	6	169634946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2709	169634946	1480121	7823	15535											
WDR27	253769	broad.mit.edu	37	chr6	170058377	170058377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaccctgtactgaccacgtCgctgttcactagcagccttg	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170058377C>T	ENST00000333572.6	-	13	1916	c.1397G>A	c.(1396-1398)cGa>cAa	p.R466Q	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.R339Q|WDR27_ENST00000448612.1_Missense_Mutation_p.R466Q			A2RRH5	WDR27_HUMAN	WD repeat domain 27	436								p.R466L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTGACCACGTCGCTGTTCACT	0.488													False	0	False	6:170058377	0	T	170058377	C	T	170058377	3	4	88	1	0	0	0	0	1	0	0	0	17368	884	31	1	1228	1	WDR27	6	170058377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423431	170058377	1056690	7824	15536											
C6orf120	387263	broad.mit.edu	37	chr6	170102799	170102799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggatctgtacgtctccGccagcagcctgcaccccagc	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170102799G>A	ENST00000332290.2	+	1	543	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	C6orf120_ENST00000439249.1_Missense_Mutation_p.A101T	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	82						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		GTACGTCTCCGCCAGCAGCCT	0.662													False	0	False	6:170102799	0	A	170102799	G	A	170102799	3	1	88	1	0	0	0	0	1	0	0	0	2341	1087	38	1	246	1	C6orf120	6	170102799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44422	170102799	1012268	7825	15537											
C6orf120	387263	broad.mit.edu	37	chr6	170103014	170103014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcctaccccgccgacggCgcagatgccggccagaagca	13	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170103014C>T	ENST00000332290.2	+	1	758	c.459C>T	c.(457-459)ggC>ggT	p.G153G	C6orf120_ENST00000439249.1_Silent_p.G172G	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	153						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		CCGCCGACGGCGCAGATGCCG	0.607													False	0	False	6:170103014	0	T	170103014	C	T	170103014	2	4	88	1	0	0	0	0	0	0	0	1	2341	755	27	1		1	C6orf120	6	170103014	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215	170103014	1012053	7826	15538											
PHF10	55274	broad.mit.edu	37	chr6	170104118	170104118	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttatccctctttgctgtttTtcccccttctgcccactttc	3	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170104118T>G	ENST00000339209.4	-	12	1601	c.1478A>C	c.(1477-1479)aAa>aCa	p.K493T	C6orf120_ENST00000332290.2_3'UTR|PHF10_ENST00000366780.4_Missense_Mutation_p.K491T	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	493					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TTTGCTGTTTTTCCCCCTTCT	0.378													False	0	True	6:170104118	0	G	170104118	T	G	170104118	3	3	88	1	0	0	0	0	1	0	0	0	11890	1841	64	4	22	4	PHF10	6	170104118	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1104	170104118	1010949	7827	15539											
PHF10	55274	broad.mit.edu	37	chr6	170118947	170118947	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttgttcttgaagcatatAgtattctcctgtttcatcag	7	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170118947A>G	ENST00000339209.4	-	3	385	c.262T>C	c.(262-264)Tat>Cat	p.Y88H	PHF10_ENST00000464779.1_5'UTR|PHF10_ENST00000366780.4_Missense_Mutation_p.Y88H	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	88					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TGAAGCATATAGTATTCTCCT	0.303													False	0	False	6:170118947	0	G	170118947	A	G	170118947	3	3	88	1	0	0	0	0	1	0	0	0	11890	420	15	4	1274	4	PHF10	6	170118947	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14829	170118947	996120	7828	15540											
DLL1	28514	broad.mit.edu	37	chr6	170592486	170592486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgaagccattcttgtcGgcgctgtggtccccgtggaa	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170592486G>A	ENST00000366756.3	-	9	2214	c.1881C>T	c.(1879-1881)gcC>gcT	p.A627A		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	627					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CATTCTTGTCGGCGCTGTGGT	0.607													False	0	False	6:170592486	0	A	170592486	G	A	170592486	2	1	88	1	0	0	0	0	0	0	0	1	4596	1103	39	1		1	DLL1	6	170592486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	473539	170592486	522581	7829	15541											
DLL1	28514	broad.mit.edu	37	chr6	170592876	170592876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatagcggtggcccctctcGtggcaggtggccccattgtg	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170592876G>A	ENST00000366756.3	-	9	1824	c.1491C>T	c.(1489-1491)caC>caT	p.H497H		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	497	EGF-like 8.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGCCCCTCTCGTGGCAGGTGG	0.701													False	0	False	6:170592876	0	A	170592876	G	A	170592876	2	1	88	1	0	0	0	0	0	0	0	1	4596	1136	40	1		1	DLL1	6	170592876	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	390	170592876	522191	7830	15542											
FAM120B	84498	broad.mit.edu	37	chr6	170626923	170626923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatttgctctaaagacactgGgccaggaaactttgtgttct	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170626923G>T	ENST00000476287.1	+	2	553	c.445G>T	c.(445-447)Ggc>Tgc	p.G149C	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.G161C|FAM120B_ENST00000537664.1_Missense_Mutation_p.G172C	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	149					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AAAGACACTGGGCCAGGAAAC	0.458													False	0	True	6:170626923	0	T	170626923	G	T	170626923	3	4	88	1	0	0	0	0	1	0	0	0	5453	1232	43	3	447	3	FAM120B	6	170626923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34047	170626923	488144	7831	15543											
FAM120B	84498	broad.mit.edu	37	chr6	170628015	170628015	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggaagttcccatatgtacaGatcctatatccaagcaagaa	7	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170628015G>A	ENST00000476287.1	+	2	1645	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.D525N|FAM120B_ENST00000537664.1_Missense_Mutation_p.D536N	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	513					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CATATGTACAGATCCTATATC	0.388													False	0	False	6:170628015	0	A	170628015	G	A	170628015	3	1	88	1	0	0	0	0	1	0	0	0	5453	942	33	2	1539	2	FAM120B	6	170628015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1092	170628015	487052	7832	15544											
TBP	6908	broad.mit.edu	37	chr6	170881346	170881346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaaagggattcaggaagaCgacgtaatggctctcatgta	11	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170881346C>T	ENST00000392092.2	+	8	1292	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	TBP_ENST00000540980.1_Missense_Mutation_p.T318M|TBP_ENST00000230354.6_Missense_Mutation_p.T338M	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	338					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		TTCAGGAAGACGACGTAATGG	0.393													False	0	False	6:170881346	0	T	170881346	C	T	170881346	3	4	88	1	0	0	0	0	1	0	0	0	15726	536	19	1	1039	1	TBP	6	170881346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253331	170881346	233721	7833	15545											
PRKAR1B	5575	broad.mit.edu	37	chr7	624175	624175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccttgctgaggaactcctCgtacatcttgcgtttcctca	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:624175C>T	ENST00000406797.1	-	8	913	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E247K|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E247K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	247					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	p.E247K(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGGAACTCCTCGTACATCTTG	0.567													False	0	False	7:624175	0	T	624175	C	T	624175	3	4	88	1	0	0	0	0	1	0	0	0	12580	893	31	1	422	1	PRKAR1B	7	624175	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		624175	158514488	7834	15546											
PRKAR1B	5575	broad.mit.edu	37	chr7	720210	720210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttcctgacgtaggacaCggcgtcctcctcggtgtaca	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:720210C>T	ENST00000406797.1	-	3	505	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.V111M|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.V111M|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.V111M	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	111	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		ACGTAGGACACGGCGTCCTCC	0.692													False	0	False	7:720210	0	T	720210	C	T	720210	3	4	88	1	0	0	0	0	1	0	0	0	12580	536	19	1	850	1	PRKAR1B	7	720210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96035	720210	158418453	7835	15547											
HEATR2	54919	broad.mit.edu	37	chr7	796502	796502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcgacgctgaagaagacGccctctgcctccggcctcct	9	16	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:796502G>A	ENST00000297440.6	+	6	1361	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	HEATR2_ENST00000313147.5_Silent_p.T447T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	447							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGAAGAAGACGCCCTCTGCCT	0.622													False	0	True	7:796502	0	A	796502	G	A	796502	2	1	88	1	0	0	0	0	0	0	0	1	7075	1074	38	1		1	HEATR2	7	796502	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76292	796502	158342161	7836	15548											
HEATR2	54919	broad.mit.edu	37	chr7	801405	801405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggacctctacctggagCgcctgctgctgtgtgtgcag	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:801405C>T	ENST00000297440.6	+	7	1506	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R496C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	496							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTACCTGGAGCGCCTGCTGCT	0.587													False	0	False	7:801405	0	T	801405	C	T	801405	3	4	88	1	0	0	0	0	1	0	0	0	7075	768	27	1	1512	1	HEATR2	7	801405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4903	801405	158337258	7837	15549											
HEATR2	54919	broad.mit.edu	37	chr7	814759	814759	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgttcttaaaaacctcgggCggcatgacggatccagagaa	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:814759C>T	ENST00000297440.6	+	11	2219	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	HEATR2_ENST00000313147.5_Silent_p.G733G|HEATR2_ENST00000403952.3_Silent_p.G158G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	733							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AAACCTCGGGCGGCATGACGG	0.512											OREG0017814|OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	7:814759	0	T	814759	C	T	814759	2	4	88	1	0	0	0	0	0	0	0	1	7075	755	27	1		1	HEATR2	7	814759	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13354	814759	158323904	7838	15550											
HEATR2	54919	broad.mit.edu	37	chr7	825229	825229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgtcatccacaagcaccGctcggccacctactgcgagc	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:825229G>A	ENST00000297440.6	+	13	2527	c.2507G>A	c.(2506-2508)cGc>cAc	p.R836H	HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000403952.3_Missense_Mutation_p.R261H	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	836							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CACAAGCACCGCTCGGCCACC	0.607													False	0	False	7:825229	0	A	825229	G	A	825229	3	1	88	1	0	0	0	0	1	0	0	0	7075	1087	38	1	2557	1	HEATR2	7	825229	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10470	825229	158313434	7839	15551											
SUN1	23353	broad.mit.edu	37	chr7	881707	881707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggatgctgtgactcgaCggcctcctgtattggacgag	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:881707C>T	ENST00000456758.2	+	6	565	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	SUN1_ENST00000403868.1_Missense_Mutation_p.R131W|SUN1_ENST00000401592.1_Missense_Mutation_p.R131W|SUN1_ENST00000405266.1_Missense_Mutation_p.R131W|SUN1_ENST00000425407.2_Missense_Mutation_p.R81W|SUN1_ENST00000457378.2_Missense_Mutation_p.R152W|SUN1_ENST00000469755.1_3'UTR|SUN1_ENST00000452783.2_Missense_Mutation_p.R131W|SUN1_ENST00000389574.3_Missense_Mutation_p.R81W			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	131					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTGACTCGACGGCCTCCTGT	0.557													False	0	False	7:881707	0	T	881707	C	T	881707	3	4	88	1	0	0	0	0	1	0	0	0	15473	527	19	1	468	1	SUN1	7	881707	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56478	881707	158256956	7840	15552											
SUN1	23353	broad.mit.edu	37	chr7	897557	897557	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccagctggcgacacgtgaAgaccggctgtgagacagtgg	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:897557A>C	ENST00000456758.2	+	19	2054	c.2054A>C	c.(2053-2055)aAg>aCg	p.K685T	SUN1_ENST00000401592.1_Missense_Mutation_p.K496T|SUN1_ENST00000405266.1_Missense_Mutation_p.K533T|SUN1_ENST00000425407.2_Missense_Mutation_p.K413T|SUN1_ENST00000452783.2_Missense_Mutation_p.K393T|SUN1_ENST00000389574.3_Missense_Mutation_p.K413T|SUN1_ENST00000413514.2_Missense_Mutation_p.K294T			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	523	SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGACACGTGAAGACCGGCTGT	0.478													False	0	False	7:897557	0	C	897557	A	C	897557	3	2	88	1	0	0	0	0	1	0	0	0	15473	72	3	4	1720	4	SUN1	7	897557	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15850	897557	158241106	7841	15553											
CYP2W1	54905	broad.mit.edu	37	chr7	1024606	1024606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcttcttctcatctgggGcgcgctggagggctgcccgc	14	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1024606G>A	ENST00000340150.6	+	3	212	c.190G>A	c.(190-192)Gcg>Acg	p.A64T	CYP2W1_ENST00000308919.7_Missense_Mutation_p.A120T			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	120					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CTCATCTGGGGCGCGCTGGAG	0.657													False	0	True	7:1024606	0	A	1024606	G	A	1024606	3	1	88	1	0	0	0	0	1	0	0	0	4201	1203	42	2	368	2	CYP2W1	7	1024606	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127049	1024606	158114057	7842	15554											
MICALL2	79778	broad.mit.edu	37	chr7	1477814	1477814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctctcgatgtcctgcaGctgcctctgtatctcctccg	8	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1477814G>T	ENST00000297508.7	-	12	2405	c.2230C>A	c.(2230-2232)Ctg>Atg	p.L744M	MICALL2_ENST00000405088.4_Missense_Mutation_p.L532M|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	744						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ATGTCCTGCAGCTGCCTCTGT	0.731													False	0	False	7:1477814	0	T	1477814	G	T	1477814	3	4	88	1	0	0	0	0	1	0	0	0	9641	962	34	3	508	3	MICALL2	7	1477814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453208	1477814	157660849	7843	15555											
INTS1	26173	broad.mit.edu	37	chr7	1525021	1525021	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgatagccctgcagcacatCtgtgtcccccacatcctcct	6	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1525021C>T	ENST00000389470.4	-	24	3546	c.3547G>A	c.(3547-3549)Gat>Aat	p.D1183N	INTS1_ENST00000404767.3_Missense_Mutation_p.D1021N			Q8N201	INT1_HUMAN	integrator complex subunit 1	1021					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGCAGCACATCTGTGTCCCCC	0.657													False	0	False	7:1525021	0	T	1525021	C	T	1525021	3	4	88	1	0	0	0	0	1	0	0	0	7825	913	32	2	3615	2	INTS1	7	1525021	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47207	1525021	157613642	7844	15556											
INTS1	26173	broad.mit.edu	37	chr7	1525106	1525106	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcaccagcgacaaaccCtgtggcagacactcatgagc	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1525106C>A	ENST00000389470.4	-	24	3461	c.3462G>T	c.(3460-3462)caG>caT	p.Q1154H	INTS1_ENST00000404767.3_Splice_Site			Q8N201	INT1_HUMAN	integrator complex subunit 1	992					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGACAAACCCTGTGGCAGAC	0.672													False	0	True	7:1525106	0	A	1525106	C	A	1525106	3	1	88	1	0	0	0	0	1	0	0	0	7825	695	24	3	3700	3	INTS1	7	1525106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85	1525106	157613557	7845	15557											
INTS1	26173	broad.mit.edu	37	chr7	1538957	1538957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgatcagcaactccgtctggCtgtcctcctcctccgtgagg	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1538957C>A	ENST00000389470.4	-	8	1267	c.1268G>T	c.(1267-1269)aGc>aTc	p.S423I	INTS1_ENST00000404767.3_Missense_Mutation_p.S295I			Q8N201	INT1_HUMAN	integrator complex subunit 1	295					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTCCGTCTGGCTGTCCTCCTC	0.692													False	0	False	7:1538957	0	A	1538957	C	A	1538957	3	1	88	1	0	0	0	0	1	0	0	0	7825	797	28	3	5856	3	INTS1	7	1538957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13851	1538957	157599706	7846	15558											
INTS1	26173	broad.mit.edu	37	chr7	1542716	1542716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccgccgcatcccgcttgCgctcagaaggcaggccggaa	14	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1542716C>T	ENST00000389470.4	-	4	553	c.554G>A	c.(553-555)cGc>cAc	p.R185H	INTS1_ENST00000404767.3_Missense_Mutation_p.R57H			Q8N201	INT1_HUMAN	integrator complex subunit 1	57					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCCCGCTTGCGCTCAGAAGG	0.647													False	0	False	7:1542716	0	T	1542716	C	T	1542716	3	4	88	1	0	0	0	0	1	0	0	0	7825	768	27	1	6586	1	INTS1	7	1542716	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3759	1542716	157595947	7847	15559											
TMEM184A	202915	broad.mit.edu	37	chr7	1590537	1590537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagccaggagtcgaaggCgtagatgggcacgatgagga	18	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1590537C>T	ENST00000297477.5	-	3	617	c.301G>A	c.(301-303)Gcc>Acc	p.A101T		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	101						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGTCGAAGGCGTAGATGGGC	0.622													False	0	False	7:1590537	0	T	1590537	C	T	1590537	3	4	88	1	0	0	0	0	1	0	0	0	16186	768	27	1	968	1	TMEM184A	7	1590537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47821	1590537	157548126	7848	15560											
TMEM184A	202915	broad.mit.edu	37	chr7	1590563	1590563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcacgatgaggagcaggCggatgatgtaacgttgctcc	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1590563C>T	ENST00000297477.5	-	3	591	c.275G>A	c.(274-276)cGc>cAc	p.R92H		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	92						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGGAGCAGGCGGATGATGTA	0.627													False	0	False	7:1590563	0	T	1590563	C	T	1590563	3	4	88	1	0	0	0	0	1	0	0	0	16186	768	27	1	994	1	TMEM184A	7	1590563	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26	1590563	157548100	7849	15561											
MAD1L1	8379	broad.mit.edu	37	chr7	2041733	2041733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtttctggcctcccagctcCtccagggcctgcgacagctg	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2041733C>A	ENST00000406869.1	-	14	1940	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	MAD1L1_ENST00000399654.2_Missense_Mutation_p.E461D|MAD1L1_ENST00000265854.7_Missense_Mutation_p.E461D|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E369D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	461	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CTCCCAGCTCCTCCAGGGCCT	0.627													False	0	False	7:2041733	0	A	2041733	C	A	2041733	3	1	88	1	0	0	0	0	1	0	0	0	9210	680	24	3	797	3	MAD1L1	7	2041733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	451170	2041733	157096930	7850	15562											
LFNG	3955	broad.mit.edu	37	chr7	2559814	2559814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccacccgcgccccctgGccgagccgctcgcgccccga	12	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2559814G>A	ENST00000222725.5	+	1	339	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	LFNG_ENST00000402506.1_Intron|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000338732.3_Intron|LFNG_ENST00000359574.3_Missense_Mutation_p.A107T	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	107					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		gcgccccctggccgagccgct	0.731													False	0	False	7:2559814	0	A	2559814	G	A	2559814	3	1	88	1	0	0	0	0	1	0	0	0	8788	1203	42	2	597	2	LFNG	7	2559814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	518081	2559814	156578849	7851	15563											
TTYH3	80727	broad.mit.edu	37	chr7	2697971	2697971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccagggccgcggcaggcGcacgacagcctctaccgcgt	14	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2697971G>A	ENST00000258796.7	+	12	1507	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	TTYH3_ENST00000403167.1_Silent_p.A263A|TTYH3_ENST00000407643.1_Silent_p.A402A	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	434						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGCGGCAGGCGCACGACAGCC	0.701													False	0	False	7:2697971	0	A	2697971	G	A	2697971	2	1	88	1	0	0	0	0	0	0	0	1	16825	1074	38	1		1	TTYH3	7	2697971	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138157	2697971	156440692	7852	15564											
AMZ1	155185	broad.mit.edu	37	chr7	2740161	2740161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctctggtctccactgacGcagccctgcagcagctgtat	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2740161G>A	ENST00000312371.4	+	2	444	c.76G>A	c.(76-78)Gca>Aca	p.A26T	AMZ1_ENST00000407112.1_Missense_Mutation_p.A26T	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	26							metallopeptidase activity|zinc ion binding	p.A26T(1)		breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CTCCACTGACGCAGCCCTGCA	0.667													False	0	False	7:2740161	0	A	2740161	G	A	2740161	3	1	88	1	0	0	0	0	1	0	0	0	596	1087	38	1	78	1	AMZ1	7	2740161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42190	2740161	156398502	7853	15565											
AMZ1	155185	broad.mit.edu	37	chr7	2752047	2752047	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgtgggaggacaccccGcctgccagcgccgactcggg	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2752047G>A	ENST00000407112.1	+	6	1175	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	AMZ1_ENST00000312371.4_Silent_p.P344P|AMZ1_ENST00000489665.1_Intron			Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	0							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGGACACCCCGCCTGCCAGCG	0.672													False	0	True	7:2752047	0	A	2752047	G	A	2752047	3	1	88	1	0	0	0	0	1	0	0	0	596	1074	38	1	1054	1	AMZ1	7	2752047	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11886	2752047	156386616	7854	15566											
CARD11	84433	broad.mit.edu	37	chr7	2952980	2952980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagcctctgcaccagcGtcttggccagcacggtgggt	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2952980G>A	ENST00000396946.4	-	22	3363	c.2960C>T	c.(2959-2961)aCg>aTg	p.T987M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	987	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTGCACCAGCGTCTTGGCCAG	0.672			Mis		DLBCL								False	0	False	7:2952980	0	A	2952980	G	A	2952980	3	1	88	1	0	0	0	0	1	0	0	0	2665	1145	40	1	520	1	CARD11	7	2952980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200933	2952980	156185683	7855	15567											
CARD11	84433	broad.mit.edu	37	chr7	2974175	2974175	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgactcctccgaggtggaaGaatcgtcagcttcttgacca	11	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2974175G>A	ENST00000396946.4	-	10	1833	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	477					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGAGGTGGAAGAATCGTCAGC	0.577			Mis		DLBCL								False	0	False	7:2974175	0	A	2974175	G	A	2974175	3	1	88	1	0	0	0	0	1	0	0	0	2665	942	33	2	2098	2	CARD11	7	2974175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21195	2974175	156164488	7856	15568											
SDK1	221935	broad.mit.edu	37	chr7	4002385	4002385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcgccagcggaggcctgcGcatccagaagctgcgtccag	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4002385G>A	ENST00000404826.2	+	9	1470	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	SDK1_ENST00000389531.3_Missense_Mutation_p.R444H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	444	Ig-like C2-type 4.				cell adhesion	integral to membrane		p.R444H(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGGCCTGCGCATCCAGAAG	0.592													False	0	False	7:4002385	0	A	4002385	G	A	4002385	3	1	88	1	0	0	0	0	1	0	0	0	14049	1087	38	1	1365	1	SDK1	7	4002385	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1028210	4002385	155136278	7857	15569											
SDK1	221935	broad.mit.edu	37	chr7	4011159	4011159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaaggggaccacggccacGctgcactgtggtgccacaca	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4011159G>A	ENST00000404826.2	+	12	1915	c.1776G>A	c.(1774-1776)acG>acA	p.T592T	SDK1_ENST00000389531.3_Silent_p.T592T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	592	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCACGGCCACGCTGCACTGTG	0.517													False	0	False	7:4011159	0	A	4011159	G	A	4011159	2	1	88	1	0	0	0	0	0	0	0	1	14049	1074	38	1		1	SDK1	7	4011159	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8774	4011159	155127504	7858	15570											
SDK1	221935	broad.mit.edu	37	chr7	4091441	4091441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcccagcacacctcagCtggtctggactcaggaagac	11	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4091441C>A	ENST00000404826.2	+	19	3029	c.2890C>A	c.(2890-2892)Ctg>Atg	p.L964M	SDK1_ENST00000389531.3_Missense_Mutation_p.L964M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	964	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACACCTCAGCTGGTCTGGAC	0.522													False	0	False	7:4091441	0	A	4091441	C	A	4091441	3	1	88	1	0	0	0	0	1	0	0	0	14049	796	28	3	2964	3	SDK1	7	4091441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80282	4091441	155047222	7859	15571											
SDK1	221935	broad.mit.edu	37	chr7	4213928	4213928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagctggagtatgaagcCgggtcaggcactgaggccaa	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4213928C>T	ENST00000404826.2	+	33	5014	c.4875C>T	c.(4873-4875)gcC>gcT	p.A1625A	SDK1_ENST00000389531.3_Silent_p.A1625A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1625	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTATGAAGCCGGGTCAGGCA	0.552													False	0	True	7:4213928	0	T	4213928	C	T	4213928	2	4	88	1	0	0	0	0	0	0	0	1	14049	639	23	1		1	SDK1	7	4213928	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122487	4213928	154924735	7860	15572											
SDK1	221935	broad.mit.edu	37	chr7	4285374	4285374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatctgcaacaagtacaaCggcgccgtgctgaccgagag	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4285374C>T	ENST00000404826.2	+	44	6457	c.6318C>T	c.(6316-6318)aaC>aaT	p.N2106N	SDK1_ENST00000389531.3_Silent_p.N2086N|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2106					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAAGTACAACGGCGCCGTGC	0.602													False	0	False	7:4285374	0	T	4285374	C	T	4285374	2	4	88	1	0	0	0	0	0	0	0	1	14049	535	19	1		1	SDK1	7	4285374	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71446	4285374	154853289	7861	15573											
RADIL	55698	broad.mit.edu	37	chr7	4841394	4841394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggtccccaggctcagggCcaagtggagtgctgggaggc	19	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4841394C>T	ENST00000399583.3	-	12	2919	c.2732G>A	c.(2731-2733)gGc>gAc	p.G911D	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.G671D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	911	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGGCTCAGGGCCAAGTGGAGT	0.716													False	0	True	7:4841394	0	T	4841394	C	T	4841394	3	4	88	1	0	0	0	0	1	0	0	0	13076	739	26	2	511	2	RADIL	7	4841394	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	556020	4841394	154297269	7862	15574											
RADIL	55698	broad.mit.edu	37	chr7	4874574	4874574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcgggcaggggctgggcCtgcgcggggtccttgaatag	21	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4874574C>T	ENST00000399583.3	-	4	1267	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	RADIL_ENST00000536091.1_Silent_p.Q360Q|RADIL_ENST00000538469.1_Silent_p.Q120Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	360	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGGCTGGGCCTGCGCGGGGT	0.746													False	0	False	7:4874574	0	T	4874574	C	T	4874574	2	4	88	1	0	0	0	0	0	0	0	1	13076	680	24	2		2	RADIL	7	4874574	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33180	4874574	154264089	7863	15575											
RADIL	55698	broad.mit.edu	37	chr7	4874821	4874821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcttgctggagggggtcCgctggcccaccgtgtgccgg	19	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4874821C>T	ENST00000399583.3	-	4	1020	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	RADIL_ENST00000536091.1_Missense_Mutation_p.R278Q|RADIL_ENST00000538469.1_Missense_Mutation_p.R38Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	278					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGAGGGGGTCCGCTGGCCCAC	0.677													False	0	False	7:4874821	0	T	4874821	C	T	4874821	3	4	88	1	0	0	0	0	1	0	0	0	13076	652	23	1	2442	1	RADIL	7	4874821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	247	4874821	154263842	7864	15576											
PAPOLB	56903	broad.mit.edu	37	chr7	4899539	4899539	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agactccaactataggattaGatatgtttgttgctgagttt	9	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4899539G>T	ENST00000404991.1	-	1	2086	c.1900C>A	c.(1900-1902)Cta>Ata	p.L634I	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	634					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TATAGGATTAGATATGTTTGT	0.413													False	0	False	7:4899539	0	T	4899539	G	T	4899539	3	4	88	1	0	0	0	0	1	0	0	0	11498	933	33	3	14	3	PAPOLB	7	4899539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24718	4899539	154239124	7865	15577											
PAPOLB	56903	broad.mit.edu	37	chr7	4900560	4900560	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catacaggcaaattaagattCcgttcttcaggctccttcag	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4900560C>T	ENST00000404991.1	-	1	1065	c.879G>A	c.(877-879)cgG>cgA	p.R293R	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	293					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AATTAAGATTCCGTTCTTCAG	0.443													False	0	False	7:4900560	0	T	4900560	C	T	4900560	2	4	88	1	0	0	0	0	0	0	0	1	11498	842	30	2		2	PAPOLB	7	4900560	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1021	4900560	154238103	7866	15578											
WIPI2	26100	broad.mit.edu	37	chr7	5269261	5269261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggacggcagtctggaaacgAccaatgagatcttggactct	12	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5269261A>G	ENST00000288828.4	+	12	1376	c.1144A>G	c.(1144-1146)Acc>Gcc	p.T382A	WIPI2_ENST00000404704.3_Missense_Mutation_p.T382A|WIPI2_ENST00000401525.3_Missense_Mutation_p.T364A|WIPI2_ENST00000382384.2_Missense_Mutation_p.T364A|WIPI2_ENST00000484262.1_Missense_Mutation_p.T323A	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	382					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TCTGGAAACGACCAATGAGAT	0.592													False	0	False	7:5269261	0	G	5269261	A	G	5269261	3	3	88	1	0	0	0	0	1	0	0	0	17455	275	10	4	1224	4	WIPI2	7	5269261	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	368701	5269261	153869402	7867	15579											
SLC29A4	222962	broad.mit.edu	37	chr7	5330411	5330411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcacgccatctactttgCgatgctgctggctggcgtgg	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5330411C>T	ENST00000396872.3	+	3	379	c.218C>T	c.(217-219)gCg>gTg	p.A73V	SLC29A4_ENST00000406453.3_Missense_Mutation_p.A73V|SLC29A4_ENST00000297195.4_Missense_Mutation_p.A73V			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		ATCTACTTTGCGATGCTGCTG	0.592													False	0	False	7:5330411	0	T	5330411	C	T	5330411	3	4	88	1	0	0	0	0	1	0	0	0	14617	768	27	1	224	1	SLC29A4	7	5330411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61150	5330411	153808252	7868	15580											
SLC29A4	222962	broad.mit.edu	37	chr7	5339001	5339001	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgccactgcatcctgggCgagtggctgcccatcctcat	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5339001C>T	ENST00000396872.3	+	9	1313	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	SLC29A4_ENST00000406453.3_Silent_p.G370G|SLC29A4_ENST00000297195.4_Silent_p.G384G|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCATCCTGGGCGAGTGGCTGC	0.642													False	0	True	7:5339001	0	T	5339001	C	T	5339001	2	4	88	1	0	0	0	0	0	0	0	1	14617	755	27	1		1	SLC29A4	7	5339001	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8590	5339001	153799662	7869	15581											
SLC29A4	222962	broad.mit.edu	37	chr7	5340232	5340232	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcatcagcaacggctacttCggcagcgtgcccatgatcct	11	14	1	1	rs143356600	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5340232C>T	ENST00000396872.3	+	10	1550	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	SLC29A4_ENST00000406453.3_Silent_p.F449F|SLC29A4_ENST00000297195.4_Silent_p.F463F|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		ACGGCTACTTCGGCAGCGTGC	0.682													False	0	False	7:5340232	0	T	5340232	C	T	5340232	2	4	88	1	0	0	0	0	0	0	0	1	14617	883	31	1		1	SLC29A4	7	5340232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1231	5340232	153798431	7870	15582											
TNRC18	84629	broad.mit.edu	37	chr7	5352415	5352415	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgccggcctgcttggtggCcttggtggggagcgccgcct	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5352415C>A	ENST00000399537.4	-	27	8455	c.8107G>T	c.(8107-8109)Gcc>Tcc	p.A2703S	TNRC18_ENST00000430969.1_Missense_Mutation_p.A2703S			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2703							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCTTGGTGGCCTTGGTGGGG	0.741													False	0	False	7:5352415	0	A	5352415	C	A	5352415	3	1	88	1	0	0	0	0	1	0	0	0	16421	739	26	3	815	3	TNRC18	7	5352415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12183	5352415	153786248	7871	15583											
TNRC18	84629	broad.mit.edu	37	chr7	5401540	5401540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactcactcggagtcccggCggcgctgcagcttcaccagc	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5401540C>T	ENST00000399537.4	-	13	4868	c.4520G>A	c.(4519-4521)cGc>cAc	p.R1507H	TNRC18_ENST00000430969.1_Missense_Mutation_p.R1507H			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1507							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGAGTCCCGGCGGCGCTGCAG	0.726													False	0	False	7:5401540	0	T	5401540	C	T	5401540	3	4	88	1	0	0	0	0	1	0	0	0	16421	768	27	1	4458	1	TNRC18	7	5401540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49125	5401540	153737123	7872	15584											
TNRC18	84629	broad.mit.edu	37	chr7	5430201	5430201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcccactgctggggggCtccaggtggttcaggtggag	19	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5430201C>T	ENST00000399537.4	-	4	750	c.402G>A	c.(400-402)gaG>gaA	p.E134E	TNRC18_ENST00000430969.1_Silent_p.E134E|TNRC18_ENST00000399434.2_Silent_p.E60E			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	134							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCTGGGGGGCTCCAGGTGGT	0.607													False	0	True	7:5430201	0	T	5430201	C	T	5430201	2	4	88	1	0	0	0	0	0	0	0	1	16421	796	28	2		2	TNRC18	7	5430201	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28661	5430201	153708462	7873	15585											
FBXL18	80028	broad.mit.edu	37	chr7	5521531	5521531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagcagagggaagatgaCgacgtttaacgcgggccgct	17	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5521531C>T	ENST00000382368.3	-	5	2155	c.2032G>A	c.(2032-2034)Gtc>Atc	p.V678I		NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGGAAGATGACGACGTTTAAC	0.632													False	0	False	7:5521531	0	T	5521531	C	T	5521531	3	4	88	1	0	0	0	0	1	0	0	0	5754	536	19	1	128	1	FBXL18	7	5521531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91330	5521531	153617132	7874	15586											
FBXL18	80028	broad.mit.edu	37	chr7	5540606	5540606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcgggcgcgcggtcggCgcgcggcgcggagtcagcga	22	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5540606C>T	ENST00000382368.3	-	3	1417	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	FBXL18_ENST00000453700.3_Missense_Mutation_p.A432T	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	432									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		gcgcggtcggcgcgcggcgcg	0.741													False	0	True	7:5540606	0	T	5540606	C	T	5540606	3	4	88	1	0	0	0	0	1	0	0	0	5754	768	27	1	874	1	FBXL18	7	5540606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19075	5540606	153598057	7875	15587											
ACTB	60	broad.mit.edu	37	chr7	5568999	5568999	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctcgtcgcccacataGgaatccttctgacccatgcc	9	16	1	1	rs142116324	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5568999G>T	ENST00000331789.5	-	3	347	c.156C>A	c.(154-156)tcC>tcA	p.S52S		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	52					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGCCCACATAGGAATCCTTCT	0.612													False	0	False	7:5568999	0	T	5568999	G	T	5568999	2	4	88	1	0	0	0	0	0	0	0	1	193	987	35	3		3	ACTB	7	5568999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28393	5568999	153569664	7876	15588											
RNF216	54476	broad.mit.edu	37	chr7	5754711	5754711	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatccaaagactgcctcttgGgcatatctgatgagacactc	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5754711G>T	ENST00000425013.2	-	11	1859	c.1635C>A	c.(1633-1635)gcC>gcA	p.A545A	RNF216_ENST00000389902.3_Silent_p.A602A	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	545					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CTGCCTCTTGGGCATATCTGA	0.458													False	0	True	7:5754711	0	T	5754711	G	T	5754711	2	4	88	1	0	0	0	0	0	0	0	1	13559	1219	43	3		3	RNF216	7	5754711	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185712	5754711	153383952	7877	15589											
PMS2	5395	broad.mit.edu	37	chr7	6017283	6017283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccggcacatgaccccaGggctgtcgctcagcatgaag	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6017283G>A	ENST00000265849.7	-	14	2486	c.2381C>T	c.(2380-2382)cCt>cTt	p.P794L	PMS2_ENST00000441476.2_Missense_Mutation_p.P688L|PMS2_ENST00000382321.4_Missense_Mutation_p.P393L	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	794					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CATGACCCCAGGGCTGTCGCT	0.542			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	True	7:6017283	0	A	6017283	G	A	6017283	3	1	88	1	0	0	0	0	1	0	0	0	12212	1000	35	2	215	2	PMS2	7	6017283	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262572	6017283	153121380	7878	15590											
PMS2	5395	broad.mit.edu	37	chr7	6017315	6017315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcatgaagatcagttcatcGacgtcctggggtccgaaggt	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6017315G>A	ENST00000406569.3	-	12	1708	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L	PMS2_ENST00000265849.7_Silent_p.V783V|PMS2_ENST00000441476.2_Silent_p.V677V|PMS2_ENST00000382321.4_Silent_p.V382V			P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	0					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TCAGTTCATCGACGTCCTGGG	0.498			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	False	7:6017315	0	A	6017315	G	A	6017315	3	1	88	1	0	0	0	0	1	0	0	0	12212	1045	37	1	247	1	PMS2	7	6017315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32	6017315	153121348	7879	15591											
PMS2	5395	broad.mit.edu	37	chr7	6026722	6026722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaactcgaaatttacatccGgtatcttcctggtttgaatg	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6026722G>A	ENST00000265849.7	-	11	1779	c.1674C>T	c.(1672-1674)acC>acT	p.T558T	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Silent_p.T558T|PMS2_ENST00000441476.2_Silent_p.T452T|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	558					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATTTACATCCGGTATCTTCCT	0.448			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	False	7:6026722	0	A	6026722	G	A	6026722	2	1	88	1	0	0	0	0	0	0	0	1	12212	1103	39	1		1	PMS2	7	6026722	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9407	6026722	153111941	7880	15592											
PMS2	5395	broad.mit.edu	37	chr7	6027116	6027116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgttctctgttgtgtgaCgaagagaaaaggcctctcgc	12	9	2	2	rs112902065		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6027116C>T	ENST00000265849.7	-	11	1385	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.R427H|PMS2_ENST00000441476.2_Missense_Mutation_p.R321H|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	427					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGTTGTGTGACGAAGAGAAAA	0.478			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	False	7:6027116	0	T	6027116	C	T	6027116	3	4	88	1	0	0	0	0	1	0	0	0	12212	536	19	1	1328	1	PMS2	7	6027116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	394	6027116	153111547	7881	15593											
PMS2	5395	broad.mit.edu	37	chr7	6035166	6035166	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaaaattttaaataccTttgctgggtcacaaggccgc	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6035166T>G	ENST00000265849.7	-	8	1007	c.902A>C	c.(901-903)aAg>aCg	p.K301T	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Splice_Site_p.K195T|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000406569.3_Splice_Site_p.K301T	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	301					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTTAAATACCTTTGCTGGGTC	0.388			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	True	7:6035166	0	G	6035166	T	G	6035166	5	3	88	1	0	0	0	0	0	0	1	0	12212	1623	56	4	1718	4	PMS2	7	6035166	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8050	6035166	153103497	7882	15594											
PMS2	5395	broad.mit.edu	37	chr7	6045573	6045573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctactaactcctttaccGcagtgcttagactcagtacc	5	13	2	1	rs148270248		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6045573G>A	ENST00000265849.7	-	2	218	c.113C>T	c.(112-114)gCg>gTg	p.A38V	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Missense_Mutation_p.A38V|PMS2_ENST00000406569.3_Missense_Mutation_p.A38V	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	38					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTCCTTTACCGCAGTGCTTAG	0.433			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	False	7:6045573	0	A	6045573	G	A	6045573	3	1	88	1	0	0	0	0	1	0	0	0	12212	1087	38	1	2531	1	PMS2	7	6045573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10407	6045573	153093090	7883	15595											
USP42	84132	broad.mit.edu	37	chr7	6196451	6196451	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccacagacacaaaaaaaaGaagaagaaaaagaagagaca	7	7	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6196451G>T	ENST00000306177.5	+	16	3866	c.3708G>T	c.(3706-3708)aaG>aaT	p.K1236N		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1236	Lys-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		ACAAAAAAAAGAAGAAGAAAA	0.463													False	0	True	7:6196451	0	T	6196451	G	T	6196451	3	4	88	1	0	0	0	0	1	0	0	0	17157	933	33	3	2322	3	USP42	7	6196451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150878	6196451	152942212	7884	15596											
CYTH3	9265	broad.mit.edu	37	chr7	6205375	6205375	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttacttactgttgtgtatTcaaagtaatagaggcagtta	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6205375T>G	ENST00000350796.3	-	10	1026	c.890A>C	c.(889-891)gAa>gCa	p.E297A	CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.E212A	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	298	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TGTTGTGTATTCAAAGTAATA	0.612													False	0	False	7:6205375	0	G	6205375	T	G	6205375	3	3	88	1	0	0	0	0	1	0	0	0	4230	1783	62	4	325	4	CYTH3	7	6205375	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8924	6205375	152933288	7885	15597											
DAGLB	221955	broad.mit.edu	37	chr7	6452623	6452623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcacatccttccccaggacGagtgacacgatgaagctctg	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6452623G>A	ENST00000428902.2	-	11	1346	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	DAGLB_ENST00000297056.6_Silent_p.L490L|DAGLB_ENST00000425398.2_Silent_p.L361L|DAGLB_ENST00000421761.2_3'UTR|DAGLB_ENST00000436575.1_Silent_p.L449L			Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	0					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCCCAGGACGAGTGACACGA	0.557													False	0	False	7:6452623	0	A	6452623	G	A	6452623	3	1	88	1	0	0	0	0	1	0	0	0	4252	1045	37	1	564	1	DAGLB	7	6452623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247248	6452623	152686040	7886	15598											
DAGLB	221955	broad.mit.edu	37	chr7	6474563	6474563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgactatccaggtggctggGgccggcagaggaatatggag	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6474563G>T	ENST00000297056.6	-	4	677	c.508C>A	c.(508-510)Ccc>Acc	p.P170T	DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000436575.1_Missense_Mutation_p.P129T|DAGLB_ENST00000428902.2_Missense_Mutation_p.P43T	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	170					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AGGTGGCTGGGGCCGGCAGAG	0.498													False	0	True	7:6474563	0	T	6474563	G	T	6474563	3	4	88	1	0	0	0	0	1	0	0	0	4252	1232	43	3	1558	3	DAGLB	7	6474563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21940	6474563	152664100	7887	15599											
DAGLB	221955	broad.mit.edu	37	chr7	6485682	6485682	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgagcaaggctccaccaGcacagtccagctttcctctg	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6485682G>T	ENST00000428902.2	-	0	238				DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000297056.6_Missense_Mutation_p.A50D|KDELR2_ENST00000463747.1_5'UTR|DAGLB_ENST00000425398.2_Missense_Mutation_p.A50D|DAGLB_ENST00000421761.2_De_novo_Start_OutOfFrame|DAGLB_ENST00000436575.1_Missense_Mutation_p.A9D			Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta						lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGCTCCACCAGCACAGTCCAG	0.473													False	0	False	7:6485682	0	T	6485682	G	T	6485682	1	4	88	1	0	0	0	0	0	0	0	0	4252	971	34	3		3	DAGLB	7	6485682	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11119	6485682	152652981	7888	15600											
DAGLB	221955	broad.mit.edu	37	chr7	6523680	6523680	+	Translation_Start_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtccccagtcagccggaaAatgttcatggcggcggcggc	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6523680A>C	ENST00000436575.1	-	0	141				KDELR2_ENST00000463747.1_5'UTR|KDELR2_ENST00000258739.4_Missense_Mutation_p.I3M|KDELR2_ENST00000490996.1_Missense_Mutation_p.I3M|FLJ20306_ENST00000601673.1_Missense_Mutation_p.K15N			Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta						lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCAGCCGGAAAATGTTCATgg	0.726													False	0	True	7:6523680	0	C	6523680	A	C	6523680	1	2	88	1	0	0	0	0	0	0	0	0	4252	10	1	4		4	DAGLB	7	6523680	Translation_Start_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37998	6523680	152614983	7889	15601											
ZDHHC4	55146	broad.mit.edu	37	chr7	6628372	6628372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaaccagactactaacgAgtggtacagaggtgactggg	12	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6628372A>G	ENST00000396706.2	+	8	1309	c.866A>G	c.(865-867)gAg>gGg	p.E289G	ZDHHC4_ENST00000396709.1_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.E289G|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.E289G|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.E289G|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.E289G			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	289						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACTACTAACGAGTGGTACAGA	0.582													False	0	False	7:6628372	0	G	6628372	A	G	6628372	3	3	88	1	0	0	0	0	1	0	0	0	17700	304	11	4	888	4	ZDHHC4	7	6628372	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	104692	6628372	152510291	7890	15602											
COL28A1	340267	broad.mit.edu	37	chr7	7483263	7483263	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtccttctgggcctcttgCtcccggaagccccgcttctc	10	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7483263C>A	ENST00000399429.3	-	20	1743	c.1603G>T	c.(1603-1605)Gca>Tca	p.A535S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	535	Collagen-like 4.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGGCCTCTTGCTCCCGGAAGC	0.527													False	0	False	7:7483263	0	A	7483263	C	A	7483263	3	1	88	1	0	0	0	0	1	0	0	0	3709	797	28	3	1838	3	COL28A1	7	7483263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	854891	7483263	151655400	7891	15603											
COL28A1	340267	broad.mit.edu	37	chr7	7545675	7545675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacccctttgggcctggGtctcctggaggtccagtaat	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7545675G>A	ENST00000399429.3	-	11	1136	c.996C>T	c.(994-996)gaC>gaT	p.D332D		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	332	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGGGCCTGGGTCTCCTGGAG	0.448													False	0	True	7:7545675	0	A	7545675	G	A	7545675	2	1	88	1	0	0	0	0	0	0	0	1	3709	1252	44	2		2	COL28A1	7	7545675	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62412	7545675	151592988	7892	15604											
RPA3	6119	broad.mit.edu	37	chr7	7679979	7679979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccctacgaagcagacaGgcttgtcgatgaattgagct	11	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7679979G>A	ENST00000223129.4	-	5	1242	c.71C>T	c.(70-72)cCt>cTt	p.P24L	RPA3_ENST00000406109.1_Intron|RPA3_ENST00000396682.2_Missense_Mutation_p.P24L	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	24					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		GAAGCAGACAGGCTTGTCGAT	0.597								Direct reversal of damage;Nucleotide excision repair (NER)					False	0	False	7:7679979	0	A	7679979	G	A	7679979	3	1	88	1	0	0	0	0	1	0	0	0	13617	1000	35	2	310	2	RPA3	7	7679979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134304	7679979	151458684	7893	15605											
GLCCI1	113263	broad.mit.edu	37	chr7	8043574	8043574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcaagttcggacctctaGtacaataaggcgaacctcct	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8043574G>A	ENST00000223145.5	+	2	1051	c.494G>A	c.(493-495)aGt>aAt	p.S165N	RPA3-AS1_ENST00000469183.1_3'UTR|GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	165										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CGGACCTCTAGTACAATAAGG	0.393													False	0	False	7:8043574	0	A	8043574	G	A	8043574	3	1	88	1	0	0	0	0	1	0	0	0	6476	1029	36	2	500	2	GLCCI1	7	8043574	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	363595	8043574	151095089	7894	15606											
ICA1	3382	broad.mit.edu	37	chr7	8153658	8153658	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccaggcagtcaggtctgaGgcagccttagcaggttctgg	14	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8153658G>T	ENST00000402384.3	-	14	1613	c.1347C>A	c.(1345-1347)gcC>gcA	p.A449A	ICA1_ENST00000422063.2_Silent_p.A478A|AC006042.6_ENST00000449931.1_RNA|ICA1_ENST00000396675.3_Silent_p.A449A|ICA1_ENST00000401396.1_Silent_p.A437A|ICA1_ENST00000406470.2_Silent_p.A449A|ICA1_ENST00000265577.7_Silent_p.A448A			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	449					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCAGGTCTGAGGCAGCCTTAG	0.532													False	0	False	7:8153658	0	T	8153658	G	T	8153658	2	4	88	1	0	0	0	0	0	0	0	1	7527	987	35	3		3	ICA1	7	8153658	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110084	8153658	150985005	7895	15607											
NXPH1	30010	broad.mit.edu	37	chr7	8791187	8791187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcattgaatatgaaaaggttGacaaggctaccaagaacaca	9	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8791187G>A	ENST00000405863.1	+	3	1515	c.604G>A	c.(604-606)Gac>Aac	p.D202N	NXPH1_ENST00000602349.1_Missense_Mutation_p.D85N|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	202	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGAAAAGGTTGACAAGGCTAC	0.433													False	0	False	7:8791187	0	A	8791187	G	A	8791187	3	1	88	1	0	0	0	0	1	0	0	0	10858	1290	45	2	610	2	NXPH1	7	8791187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637529	8791187	150347476	7896	15608											
THSD7A	221981	broad.mit.edu	37	chr7	11415430	11415430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagttatatgttacatgtcGgcatctccatcataggctaa	7	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11415430G>A	ENST00000423059.4	-	28	5216	c.4965C>T	c.(4963-4965)gcC>gcT	p.A1655A	AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTTACATGTCGGCATCTCCAT	0.408										HNSCC(18;0.044)			False	0	False	7:11415430	0	A	11415430	G	A	11415430	2	1	88	1	0	0	0	0	0	0	0	1	15961	1103	39	1		1	THSD7A	7	11415430	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2624243	11415430	147723233	7897	15609											
THSD7A	221981	broad.mit.edu	37	chr7	11446998	11446998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaaagctgacagttcacaGggcattccaccatgcaggac	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11446998G>T	ENST00000423059.4	-	20	4102	c.3851C>A	c.(3850-3852)cCt>cAt	p.P1284H	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 12.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACAGTTCACAGGGCATTCCAC	0.458										HNSCC(18;0.044)			False	0	True	7:11446998	0	T	11446998	G	T	11446998	3	4	88	1	0	0	0	0	1	0	0	0	15961	1000	35	3	1158	3	THSD7A	7	11446998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31568	11446998	147691665	7898	15610											
THSD7A	221981	broad.mit.edu	37	chr7	11457220	11457220	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaagggccatctgctgtatTctgcatgcatctagaaaaga	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11457220T>G	ENST00000423059.4	-	17	3645	c.3394A>C	c.(3394-3396)Aat>Cat	p.N1132H	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGCTGTATTCTGCATGCAT	0.418										HNSCC(18;0.044)			False	0	False	7:11457220	0	G	11457220	T	G	11457220	3	3	88	1	0	0	0	0	1	0	0	0	15961	1783	62	4	1627	4	THSD7A	7	11457220	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10222	11457220	147681443	7899	15611											
THSD7A	221981	broad.mit.edu	37	chr7	11630195	11630195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagggccgtctggttgcCgcgcctcttgtcctgctgac	13	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11630195C>T	ENST00000423059.4	-	4	1596	c.1345G>A	c.(1345-1347)Ggc>Agc	p.G449S		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTCTGGTTGCCGCGCCTCTTG	0.557										HNSCC(18;0.044)			False	0	False	7:11630195	0	T	11630195	C	T	11630195	3	4	88	1	0	0	0	0	1	0	0	0	15961	652	23	1	3724	1	THSD7A	7	11630195	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172975	11630195	147508468	7900	15612											
THSD7A	221981	broad.mit.edu	37	chr7	11632901	11632901	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcacaggggacaactccAtctccttgagacaaacaggg	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11632901A>C	ENST00000423059.4	-	3	1502	c.1251T>G	c.(1249-1251)gaT>gaG	p.D417E		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGACAACTCCATCTCCTTGAG	0.443										HNSCC(18;0.044)			False	0	False	7:11632901	0	C	11632901	A	C	11632901	3	2	88	1	0	0	0	0	1	0	0	0	15961	214	8	4	3822	4	THSD7A	7	11632901	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2706	11632901	147505762	7901	15613											
THSD7A	221981	broad.mit.edu	37	chr7	11676485	11676485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctctcggcctgcttacaGttagtatgcagtgtagtcca	11	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11676485G>A	ENST00000423059.4	-	2	545	c.294C>T	c.(292-294)aaC>aaT	p.N98N	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTGCTTACAGTTAGTATGCA	0.512										HNSCC(18;0.044)			False	0	False	7:11676485	0	A	11676485	G	A	11676485	2	1	88	1	0	0	0	0	0	0	0	1	15961	1020	36	2		2	THSD7A	7	11676485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43584	11676485	147462178	7902	15614											
SCIN	85477	broad.mit.edu	37	chr7	12691470	12691470	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttcatttttcagatatTtatttggattggcaaagatg	8	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:12691470T>G	ENST00000297029.5	+	15	2065	c.1964T>G	c.(1963-1965)tTt>tGt	p.F655C	SCIN_ENST00000519209.1_Missense_Mutation_p.F408C|SCIN_ENST00000445618.2_Missense_Mutation_p.F408C	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	655	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTCAGATATTTATTTGGATT	0.378													False	0	True	7:12691470	0	G	12691470	T	G	12691470	3	3	88	1	0	0	0	0	1	0	0	0	13986	1841	64	4	2022	4	SCIN	7	12691470	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1014985	12691470	146447193	7903	15615											
ARL4A	10124	broad.mit.edu	37	chr7	12728429	12728429	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaggacttgagaaactacatGatatgatcattaaaagaaga	8	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:12728429G>A	ENST00000396663.1	+	2	1032	c.550G>A	c.(550-552)Gat>Aat	p.D184N	ARL4A_ENST00000396664.2_Missense_Mutation_p.D184N|ARL4A_ENST00000356797.3_Missense_Mutation_p.D184N|ARL4A_ENST00000404894.1_Missense_Mutation_p.D184N|ARL4A_ENST00000396662.1_Missense_Mutation_p.D184N	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	184					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GAAACTACATGATATGATCAT	0.393													False	0	True	7:12728429	0	A	12728429	G	A	12728429	3	1	88	1	0	0	0	0	1	0	0	0	940	1290	45	2	552	2	ARL4A	7	12728429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36959	12728429	146410234	7904	15616											
ETV1	2115	broad.mit.edu	37	chr7	13946113	13946113	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtccaggcaataaaatgaGaatttgaagggtcatccaga	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:13946113G>A	ENST00000343495.5	-	11	1736	c.998C>T	c.(997-999)tCt>tTt	p.S333F	ETV1_ENST00000242066.5_Missense_Mutation_p.S333F|ETV1_ENST00000399357.3_Missense_Mutation_p.S248F|ETV1_ENST00000420159.2_Missense_Mutation_p.S293F|ETV1_ENST00000405218.2_Missense_Mutation_p.S351F|ETV1_ENST00000430479.1_Missense_Mutation_p.S351F|ETV1_ENST00000405192.2_Missense_Mutation_p.S328F|ETV1_ENST00000405358.4_Missense_Mutation_p.S365F|ETV1_ENST00000403527.1_Missense_Mutation_p.S311F|ETV1_ENST00000403685.1_Missense_Mutation_p.S333F			P50549	ETV1_HUMAN	ets variant 1	351					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AATAAAATGAGAATTTGAAGG	0.433			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								False	0	False	7:13946113	0	A	13946113	G	A	13946113	3	1	88	1	0	0	0	0	1	0	0	0	5309	942	33	2	393	2	ETV1	7	13946113	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1217684	13946113	145192550	7905	15617											
ETV1	2115	broad.mit.edu	37	chr7	14025798	14025798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgcacttaaatcttgaaGcatcccgtcctgatgaaccc	6	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:14025798G>A	ENST00000420159.2	-	1	341	c.4C>T	c.(4-6)Ctt>Ttt	p.L2F	ETV1_ENST00000242066.5_Intron|ETV1_ENST00000399357.3_Missense_Mutation_p.L2F|ETV1_ENST00000405218.2_Intron|ETV1_ENST00000430479.1_Intron|ETV1_ENST00000405192.2_Intron|ETV1_ENST00000343495.5_Intron|ETV1_ENST00000405358.4_Intron|ETV1_ENST00000403527.1_Missense_Mutation_p.L2F|ETV1_ENST00000403685.1_Intron	NM_001163151.1	NP_001156623.1	P50549	ETV1_HUMAN	ets variant 1	0					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAATCTTGAAGCATCCCGTCC	0.398			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								False	0	False	7:14025798	0	A	14025798	G	A	14025798	3	1	88	1	0	0	0	0	1	0	0	0	5309	971	34	2	1349	2	ETV1	7	14025798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79685	14025798	145112865	7906	15618											
DGKB	1607	broad.mit.edu	37	chr7	14880885	14880885	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcccatttttcctggtttgTcatggtggtggtgagaagct	14	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:14880885T>G	ENST00000403951.2	-	2	423	c.4A>C	c.(4-6)Aca>Cca	p.T2P	DGKB_ENST00000258767.5_Missense_Mutation_p.T2P|DGKB_ENST00000407950.1_Missense_Mutation_p.T2P|DGKB_ENST00000444700.2_Missense_Mutation_p.T2P|DGKB_ENST00000406247.3_Missense_Mutation_p.T2P|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.T2P|DGKB_ENST00000402815.1_Missense_Mutation_p.T2P			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	2					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TCCTGGTTTGTCATGGTGGTG	0.408													False	0	False	7:14880885	0	G	14880885	T	G	14880885	3	3	88	1	0	0	0	0	1	0	0	0	4496	1667	58	4	2525	4	DGKB	7	14880885	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	855087	14880885	144257778	7907	15619											
TSPAN13	27075	broad.mit.edu	37	chr7	16818722	16818722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgttggtggcattggccTgttcttcagttttacagagg	12	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:16818722T>C	ENST00000262067.4	+	5	954	c.521T>C	c.(520-522)cTg>cCg	p.L174P		NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	174						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GGCATTGGCCTGTTCTTCAGT	0.423													False	0	False	7:16818722	0	C	16818722	T	C	16818722	3	2	88	1	0	0	0	0	1	0	0	0	16720	1580	55	4	539	4	TSPAN13	7	16818722	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1937837	16818722	142319941	7908	15620											
AGR2	10551	broad.mit.edu	37	chr7	16834575	16834575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacacagagctgtatctgCaggttcgtaagcatagagac	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:16834575C>T	ENST00000419304.2	-	7	615	c.463G>A	c.(463-465)Gca>Aca	p.A155T	AGR2_ENST00000401412.1_Missense_Mutation_p.A155T|AGR2_ENST00000419572.2_Missense_Mutation_p.A175T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	155					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GCTGTATCTGCAGGTTCGTAA	0.448													False	0	False	7:16834575	0	T	16834575	C	T	16834575	3	4	88	1	0	0	0	0	1	0	0	0	395	710	25	2	72	2	AGR2	7	16834575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15853	16834575	142304088	7909	15621											
SNX13	23161	broad.mit.edu	37	chr7	17838675	17838675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctctaataagctgttgaaGtaggtttttgatattccttc	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17838675G>T	ENST00000409389.1	-	23	2606	c.2434C>A	c.(2434-2436)Ctt>Att	p.L812I	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.L801I			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	812					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AGCTGTTGAAGTAGGTTTTTG	0.363													False	0	False	7:17838675	0	T	17838675	G	T	17838675	3	4	88	1	0	0	0	0	1	0	0	0	14964	1029	36	3	488	3	SNX13	7	17838675	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1004100	17838675	141299988	7910	15622											
SNX13	23161	broad.mit.edu	37	chr7	17841237	17841237	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagttgagccgaaactcGgcgatgttcagggtctgaat	13	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17841237G>A	ENST00000409389.1	-	22	2477	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Nonsense_Mutation_p.R758*			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	769					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GCCGAAACTCGGCGATGTTCA	0.338													False	0	False	7:17841237	0	A	17841237	G	A	17841237	4	1	88	1	0	0	0	0	0	1	0	0	14964	1124	39	1	621	1	SNX13	7	17841237	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2562	17841237	141297426	7911	15623											
SNX13	23161	broad.mit.edu	37	chr7	17874457	17874457	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatctgctaattttgctactAaatagtcatcaacagtaact	4	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17874457A>G	ENST00000409389.1	-	14	1563	c.1391T>C	c.(1390-1392)tTa>tCa	p.L464S	SNX13_ENST00000428135.3_Missense_Mutation_p.L464S			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	464	RGS.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TTTTGCTACTAAATAGTCATC	0.299													False	0	True	7:17874457	0	G	17874457	A	G	17874457	3	3	88	1	0	0	0	0	1	0	0	0	14964	372	13	4	1534	4	SNX13	7	17874457	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33220	17874457	141264206	7912	15624											
SNX13	23161	broad.mit.edu	37	chr7	17915361	17915361	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactcgtaagtgtgtgccaaAgtcatctacaatgcgtgtag	10	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17915361A>C	ENST00000409389.1	-	6	665	c.493T>G	c.(493-495)Ttt>Gtt	p.F165V	SNX13_ENST00000428135.3_Missense_Mutation_p.F165V			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	165	PXA.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TGTGTGCCAAAGTCATCTACA	0.313													False	0	True	7:17915361	0	C	17915361	A	C	17915361	3	2	88	1	0	0	0	0	1	0	0	0	14964	72	3	4	2464	4	SNX13	7	17915361	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40904	17915361	141223302	7913	15625											
PRPS1L1	221823	broad.mit.edu	37	chr7	18066654	18066654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggctgggccagaaaagattCcatgagtcaagatagcataa	11	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18066654C>A	ENST00000506618.2	-	1	832	c.752G>T	c.(751-753)gGa>gTa	p.G251V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	251					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGAAAAGATTCCATGAGTCAA	0.458													False	0	False	7:18066654	0	A	18066654	C	A	18066654	3	1	88	1	0	0	0	0	1	0	0	0	12655	855	30	3	208	3	PRPS1L1	7	18066654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	151293	18066654	141072009	7914	15626											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067034	18067034	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcatgtaggtccatggtgatGatatgatccgcacctgctat	11	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18067034G>A	ENST00000506618.2	-	1	452	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	124					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCATGGTGATGATATGATCCG	0.468													False	0	True	7:18067034	0	A	18067034	G	A	18067034	2	1	88	1	0	0	0	0	0	0	0	1	12655	1280	45	2		2	PRPS1L1	7	18067034	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	380	18067034	141071629	7915	15627											
HDAC9	9734	broad.mit.edu	37	chr7	18630049	18630049	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaggcaagaacaggaagtaGagaggcatcgcagagaacag	15	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18630049G>A	ENST00000406451.4	+	4	496	c.346G>A	c.(346-348)Gag>Aag	p.E116K	HDAC9_ENST00000524023.1_Missense_Mutation_p.E85K|HDAC9_ENST00000417496.2_Missense_Mutation_p.E158K|HDAC9_ENST00000432645.2_Missense_Mutation_p.E116K|HDAC9_ENST00000456174.2_Missense_Mutation_p.E88K|HDAC9_ENST00000405010.3_Missense_Mutation_p.E116K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E119K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E119K|HDAC9_ENST00000428307.2_Missense_Mutation_p.E116K|HDAC9_ENST00000406072.1_Missense_Mutation_p.E147K	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACAGGAAGTAGAGAGGCATCG	0.483													False	0	True	7:18630049	0	A	18630049	G	A	18630049	3	1	88	1	0	0	0	0	1	0	0	0	7061	943	33	2	365	2	HDAC9	7	18630049	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	563015	18630049	140508614	7916	15628											
HDAC9	9734	broad.mit.edu	37	chr7	18631230	18631230	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actccaactaatggaaaaaaTcattccgtgagccgccatcc	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18631230T>C	ENST00000406451.4	+	5	648	c.498T>C	c.(496-498)aaT>aaC	p.N166N	HDAC9_ENST00000524023.1_Silent_p.N135N|HDAC9_ENST00000417496.2_Silent_p.N208N|HDAC9_ENST00000432645.2_Silent_p.N166N|HDAC9_ENST00000456174.2_Silent_p.N138N|HDAC9_ENST00000405010.3_Silent_p.N166N|HDAC9_ENST00000441542.2_Silent_p.N169N|HDAC9_ENST00000401921.1_Silent_p.N169N|HDAC9_ENST00000428307.2_Silent_p.N166N|HDAC9_ENST00000406072.1_Silent_p.N197N	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATGGAAAAAATCATTCCGTGA	0.448													False	0	True	7:18631230	0	C	18631230	T	C	18631230	2	2	88	1	0	0	0	0	0	0	0	1	7061	1432	50	4		4	HDAC9	7	18631230	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1181	18631230	140507433	7917	15629											
HDAC9	9734	broad.mit.edu	37	chr7	18687510	18687510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatcccggcatcttccAgccaccctcatgttacttta	6	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18687510A>G	ENST00000406451.4	+	10	1279	c.1129A>G	c.(1129-1131)Agc>Ggc	p.S377G	HDAC9_ENST00000524023.1_Missense_Mutation_p.S300G|HDAC9_ENST00000417496.2_Missense_Mutation_p.S375G|HDAC9_ENST00000432645.2_Missense_Mutation_p.S377G|HDAC9_ENST00000456174.2_Missense_Mutation_p.S349G|HDAC9_ENST00000405010.3_Missense_Mutation_p.S377G|HDAC9_ENST00000441542.2_Missense_Mutation_p.S380G|HDAC9_ENST00000401921.1_Missense_Mutation_p.S336G|HDAC9_ENST00000428307.2_Missense_Mutation_p.S333G|HDAC9_ENST00000406072.1_Missense_Mutation_p.S364G	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGCATCTTCCAGCCACCCTCA	0.502													False	0	False	7:18687510	0	G	18687510	A	G	18687510	3	3	88	1	0	0	0	0	1	0	0	0	7061	188	7	4	1172	4	HDAC9	7	18687510	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56280	18687510	140451153	7918	15630											
HDAC9	9734	broad.mit.edu	37	chr7	18801889	18801889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggacagaagctggaccccaGgatactcctaggtctgtacg	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18801889G>T	ENST00000406451.4	+	15	2294	c.2144G>T	c.(2143-2145)aGg>aTg	p.R715M	HDAC9_ENST00000432645.2_Missense_Mutation_p.R715M|HDAC9_ENST00000441542.2_Missense_Mutation_p.R718M|HDAC9_ENST00000401921.1_Missense_Mutation_p.R674M	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9		Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTGGACCCCAGGATACTCCTA	0.507													False	0	False	7:18801889	0	T	18801889	G	T	18801889	3	4	88	1	0	0	0	0	1	0	0	0	7061	1000	35	3	2258	3	HDAC9	7	18801889	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114379	18801889	140336774	7919	15631											
TWISTNB	221830	broad.mit.edu	37	chr7	19744544	19744544	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatagggacacctaaaaggCtgtaaaaagaaaaagttgaa	9	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19744544C>T	ENST00000222567.5	-	2	325		c.e2-1			NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor							microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ACCTAAAAGGCTGTAAAAAGA	0.368													False	0	False	7:19744544	0	T	19744544	C	T	19744544	5	4	88	1	0	0	0	0	0	0	1	0	16868	811	28	2	774	2	TWISTNB	7	19744544	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	942655	19744544	139394119	7920	15632											
TWISTNB	221830	broad.mit.edu	37	chr7	19748552	19748552	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcggcataagtcggcaactCtaggcaaggcaggacgccag	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19748552C>A	ENST00000222567.5	-	1	158	c.88G>T	c.(88-90)Gag>Tag	p.E30*		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	30						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GTCGGCAACTCTAGGCAAGGC	0.652											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	7:19748552	0	A	19748552	C	A	19748552	4	1	88	1	0	0	0	0	0	1	0	0	16868	922	32	3	944	3	TWISTNB	7	19748552	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4008	19748552	139390111	7921	15633											
TMEM196	256130	broad.mit.edu	37	chr7	19765216	19765216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgttcataactggctagtCgacaagtgagccaggaagag	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19765216C>T	ENST00000405844.1	-	3	1075	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	TMEM196_ENST00000493519.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000422233.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000433641.1_Missense_Mutation_p.R59Q|TMEM196_ENST00000405764.3_Missense_Mutation_p.R127Q			Q5HYL7	TM196_HUMAN	transmembrane protein 196	133						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						ACTGGCTAGTCGACAAGTGAG	0.498													False	0	False	7:19765216	0	T	19765216	C	T	19765216	3	4	88	1	0	0	0	0	1	0	0	0	16200	884	31	1	146	1	TMEM196	7	19765216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16664	19765216	139373447	7922	15634											
MACC1	346389	broad.mit.edu	37	chr7	20199174	20199174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgatttccaacaacggGctcacagtgcacgaaagatc	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20199174G>A	ENST00000400331.5	-	5	1118	c.810C>T	c.(808-810)agC>agT	p.S270S	MACC1_ENST00000332878.4_Silent_p.S270S|MACC1_ENST00000589011.1_Silent_p.S270S	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	270					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAACAACGGGCTCACAGTGC	0.478													False	0	True	7:20199174	0	A	20199174	G	A	20199174	2	1	88	1	0	0	0	0	0	0	0	1	9206	1194	42	2		2	MACC1	7	20199174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	433958	20199174	138939489	7923	15635											
ITGB8	3696	broad.mit.edu	37	chr7	20418715	20418715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagttcatcctctgaagAaatatcctgtggatctttat	7	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418715A>G	ENST00000222573.4	+	4	1114	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E	ITGB8_ENST00000537992.1_Missense_Mutation_p.K9E	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCCTCTGAAGAAATATCCTGT	0.308													False	0	True	7:20418715	0	G	20418715	A	G	20418715	3	3	88	1	0	0	0	0	1	0	0	0	7951	247	9	4	444	4	ITGB8	7	20418715	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	219541	20418715	138719948	7924	15636											
ITGB8	3696	broad.mit.edu	37	chr7	20418775	20418775	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catcaatgcacaataatataGaaaaattaaattccgttgga	5	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418775G>A	ENST00000222573.4	+	4	1174	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	ITGB8_ENST00000537992.1_Missense_Mutation_p.E29K	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8		VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAATAATATAGAAAAATTAAA	0.343													False	0	True	7:20418775	0	A	20418775	G	A	20418775	3	1	88	1	0	0	0	0	1	0	0	0	7951	943	33	2	504	2	ITGB8	7	20418775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	20418775	138719888	7925	15637											
ITGB8	3696	broad.mit.edu	37	chr7	20420382	20420382	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgagaaagcagttcatagAcagaagatctctggaaacat	9	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20420382A>C	ENST00000222573.4	+	5	1413	c.729A>C	c.(727-729)agA>agC	p.R243S	ITGB8_ENST00000537992.1_Missense_Mutation_p.R108S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8		VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAGTTCATAGACAGAAGATCT	0.443													False	0	False	7:20420382	0	C	20420382	A	C	20420382	3	2	88	1	0	0	0	0	1	0	0	0	7951	272	10	4	747	4	ITGB8	7	20420382	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1607	20420382	138718281	7926	15638											
ABCB5	340273	broad.mit.edu	37	chr7	20682918	20682918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accaagaggattcgaaaacaGttttttcattcagttttggc	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20682918G>T	ENST00000404938.2	+	6	1078	c.426G>T	c.(424-426)caG>caT	p.Q142H		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	326	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCGAAAACAGTTTTTTCATT	0.408													False	0	True	7:20682918	0	T	20682918	G	T	20682918	3	4	88	1	0	0	0	0	1	0	0	0	44	1020	36	3	444	3	ABCB5	7	20682918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262536	20682918	138455745	7927	15639											
ABCB5	340273	broad.mit.edu	37	chr7	20682938	20682938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttttttcattcagttttggCacaggacatcggctggtttg	11	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20682938C>A	ENST00000404938.2	+	6	1098	c.446C>A	c.(445-447)gCa>gAa	p.A149E		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	333	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCAGTTTTGGCACAGGACATC	0.408													False	0	False	7:20682938	0	A	20682938	C	A	20682938	3	1	88	1	0	0	0	0	1	0	0	0	44	710	25	3	464	3	ABCB5	7	20682938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	20682938	138455725	7928	15640											
ABCB5	340273	broad.mit.edu	37	chr7	20683249	20683249	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggcttcagcggcagcatgTtctagggtaagtgagatggc	15	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20683249T>C	ENST00000404938.2	+	7	1324	c.672T>C	c.(670-672)tgT>tgC	p.C224C		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	410			K -> R (in dbSNP:rs13222448).		regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CGGCAGCATGTTCTAGGGTAA	0.443													False	0	False	7:20683249	0	C	20683249	T	C	20683249	2	2	88	1	0	0	0	0	0	0	0	1	44	1731	60	4		4	ABCB5	7	20683249	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	311	20683249	138455414	7929	15641											
ABCB5	340273	broad.mit.edu	37	chr7	20795190	20795190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaaggaactcatcaagaGctcctgagaaatcgagacat	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20795190G>A	ENST00000404938.2	+	28	4369	c.3717G>A	c.(3715-3717)gaG>gaA	p.E1239E	ABCB5_ENST00000258738.6_Silent_p.E794E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	794					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTCATCAAGAGCTCCTGAGAA	0.413													False	0	False	7:20795190	0	A	20795190	G	A	20795190	2	1	88	1	0	0	0	0	0	0	0	1	44	962	34	2		2	ABCB5	7	20795190	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111941	20795190	138343473	7930	15642											
SP4	6671	broad.mit.edu	37	chr7	21521598	21521598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcatattgaaggatgtgGtaaagtttatggcaaaacat	10	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21521598G>A	ENST00000222584.3	+	5	2182	c.1964G>A	c.(1963-1965)gGt>gAt	p.G655D		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	655					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GAAGGATGTGGTAAAGTTTAT	0.373													False	0	False	7:21521598	0	A	21521598	G	A	21521598	3	1	88	1	0	0	0	0	1	0	0	0	15046	1261	44	2	1982	2	SP4	7	21521598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	726408	21521598	137617065	7931	15643											
DNAH11	8701	broad.mit.edu	37	chr7	21630818	21630818	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcagtacattggaaatcttGaccttcttgtgcaagggtat	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21630818G>A	ENST00000328843.6	+	14	2321	c.2290G>A	c.(2290-2292)Gac>Aac	p.D764N	DNAH11_ENST00000409508.3_Missense_Mutation_p.D764N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	764	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGAAATCTTGACCTTCTTGT	0.383									Kartagener syndrome				False	0	False	7:21630818	0	A	21630818	G	A	21630818	3	1	88	1	0	0	0	0	1	0	0	0	4629	1290	45	2	2344	2	DNAH11	7	21630818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109220	21630818	137507845	7932	15644											
DNAH11	8701	broad.mit.edu	37	chr7	21640477	21640477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggccatgctgtgtcttccGatgaaatggatgctcatgca	11	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21640477G>A	ENST00000328843.6	+	16	3215	c.3184G>A	c.(3184-3186)Gat>Aat	p.D1062N	DNAH11_ENST00000409508.3_Missense_Mutation_p.D1062N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1062	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTGTCTTCCGATGAAATGGA	0.433									Kartagener syndrome				False	0	False	7:21640477	0	A	21640477	G	A	21640477	3	1	88	1	0	0	0	0	1	0	0	0	4629	1058	37	1	3246	1	DNAH11	7	21640477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9659	21640477	137498186	7933	15645											
DNAH11	8701	broad.mit.edu	37	chr7	21659634	21659634	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttacgaagttcactatCgaacaggcattccattacta	5	10	2	0	rs72657321		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21659634C>T	ENST00000328843.6	+	25	4484	c.4453C>T	c.(4453-4455)Cga>Tga	p.R1485*	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Nonsense_Mutation_p.R1480*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1485	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTTCACTATCGAACAGGCAT	0.308									Kartagener syndrome				False	0	False	7:21659634	0	T	21659634	C	T	21659634	4	4	88	1	0	0	0	0	0	1	0	0	4629	876	31	1	4551	1	DNAH11	7	21659634	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19157	21659634	137479029	7934	15646											
DNAH11	8701	broad.mit.edu	37	chr7	21678582	21678582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctttgtgaaaaagctctcGctgaatacctggaaaccaag	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21678582G>A	ENST00000328843.6	+	28	4889	c.4858G>A	c.(4858-4860)Gct>Act	p.A1620T	DNAH11_ENST00000409508.3_Missense_Mutation_p.A1615T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1620	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAAGCTCTCGCTGAATACCT	0.393									Kartagener syndrome				False	0	False	7:21678582	0	A	21678582	G	A	21678582	3	1	88	1	0	0	0	0	1	0	0	0	4629	1087	38	1	4968	1	DNAH11	7	21678582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18948	21678582	137460081	7935	15647											
DNAH11	8701	broad.mit.edu	37	chr7	21805045	21805045	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgcccccatgtctccacaGatcattttgtgtttctctcc	5	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21805045G>A	ENST00000328843.6	+	56	8992		c.e56-1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTCTCCACAGATCATTTTGT	0.483									Kartagener syndrome				False	0	False	7:21805045	0	A	21805045	G	A	21805045	5	1	88	1	0	0	0	0	0	0	1	0	4629	956	33	2	9180	2	DNAH11	7	21805045	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126463	21805045	137333618	7936	15648											
RAPGEF5	9771	broad.mit.edu	37	chr7	22190035	22190035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccttaccaaagtgtccGccaggtctttccggtagaca	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22190035G>A	ENST00000344041.6	-	18	1727	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.A322V	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	322	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAAAGTGTCCGCCAGGTCTTT	0.468													False	0	False	7:22190035	0	A	22190035	G	A	22190035	3	1	88	1	0	0	0	0	1	0	0	0	13126	1087	38	1	813	1	RAPGEF5	7	22190035	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	384990	22190035	136948628	7937	15649											
RAPGEF5	9771	broad.mit.edu	37	chr7	22206738	22206738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtcatgaagacagtgtaCgtgagaaggaagtcatccag	13	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22206738C>T	ENST00000344041.6	-	12	1086	c.774G>A	c.(772-774)acG>acA	p.T258T	RAPGEF5_ENST00000401957.2_Silent_p.T108T	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	108					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AGACAGTGTACGTGAGAAGGA	0.453													False	0	False	7:22206738	0	T	22206738	C	T	22206738	2	4	88	1	0	0	0	0	0	0	0	1	13126	523	19	1		1	RAPGEF5	7	22206738	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16703	22206738	136931925	7938	15650											
RAPGEF5	9771	broad.mit.edu	37	chr7	22233125	22233125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggtggaagactgcgagCggctgctccattcatcgtcc	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22233125C>T	ENST00000401957.2	-	1	402	c.155G>A	c.(154-156)cGc>cAc	p.R52H	RAPGEF5_ENST00000405243.1_3'UTR|RAPGEF5_ENST00000475788.1_Intron|RAPGEF5_ENST00000344041.6_Intron			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	52					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AGACTGCGAGCGGCTGCTCCA	0.562													False	0	False	7:22233125	0	T	22233125	C	T	22233125	3	4	88	1	0	0	0	0	1	0	0	0	13126	783	27	1		1	RAPGEF5	7	22233125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26387	22233125	136905538	7939	15651											
IL6	3569	broad.mit.edu	37	chr7	22767180	22767180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccgccccacacagacagcCactcacctcttcagaacgaa	6	18	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22767180C>A	ENST00000404625.1	+	3	596	c.137C>A	c.(136-138)cCa>cAa	p.P46Q	IL6_ENST00000258743.5_Missense_Mutation_p.P46Q|IL6_ENST00000420258.2_Missense_Mutation_p.P100Q|IL6_ENST00000406575.1_Missense_Mutation_p.P46Q|IL6_ENST00000401651.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000401630.3_Missense_Mutation_p.P23Q|IL6_ENST00000407492.1_Intron			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	46					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	CACAGACAGCCACTCACCTCT	0.572													False	0	False	7:22767180	0	A	22767180	C	A	22767180	3	1	88	1	0	0	0	0	1	0	0	0	7751	594	21	3	143	3	IL6	7	22767180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534055	22767180	136371483	7940	15652											
NUPL2	11097	broad.mit.edu	37	chr7	23236306	23236306	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttccgttttcagctaaattCtgtccaacgtttaataaatc	4	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23236306C>A	ENST00000258742.5	+	5	789	c.530C>A	c.(529-531)tCt>tAt	p.S177Y		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	177					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCTAAATTCTGTCCAACGT	0.308													False	0	False	7:23236306	0	A	23236306	C	A	23236306	3	1	88	1	0	0	0	0	1	0	0	0	10843	913	32	3	548	3	NUPL2	7	23236306	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	469126	23236306	135902357	7941	15653											
GPNMB	10457	broad.mit.edu	37	chr7	23300346	23300346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaccaggaccttgtccGccaccgccaccaccacccag	8	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23300346G>A	ENST00000258733.4	+	6	1267	c.972G>A	c.(970-972)ccG>ccA	p.P324P	GPNMB_ENST00000539136.1_Silent_p.P225P|GPNMB_ENST00000381990.2_Silent_p.P324P|GPNMB_ENST00000453162.2_Silent_p.P266P			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	324	PKD.|Poly-Pro.		P -> L (in dbSNP:rs35363287).		negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GACCTTGTCCGCCACCGCCAC	0.483													False	0	True	7:23300346	0	A	23300346	G	A	23300346	2	1	88	1	0	0	0	0	0	0	0	1	6666	1074	38	1		1	GPNMB	7	23300346	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64040	23300346	135838317	7942	15654											
IGF2BP3	10643	broad.mit.edu	37	chr7	23391009	23391009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattgggtgggaaccagcaGgcgcagaggcaaatcacatg	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23391009G>A	ENST00000258729.3	-	6	954	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	200	KH 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GGAACCAGCAGGCGCAGAGGC	0.567													False	0	False	7:23391009	0	A	23391009	G	A	23391009	2	1	88	1	0	0	0	0	0	0	0	1	7625	991	35	2		2	IGF2BP3	7	23391009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90663	23391009	135747654	7943	15655											
IGF2BP3	10643	broad.mit.edu	37	chr7	23391064	23391064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggatcctggagacccctgCcttgaggagcccctctgccc	11	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23391064C>T	ENST00000258729.3	-	6	899	c.543G>A	c.(541-543)agG>agA	p.R181R	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	181					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAGACCCCTGCCTTGAGGAGC	0.572													False	0	False	7:23391064	0	T	23391064	C	T	23391064	2	4	88	1	0	0	0	0	0	0	0	1	7625	738	26	2		2	IGF2BP3	7	23391064	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	23391064	135747599	7944	15656											
TRA2A	29896	broad.mit.edu	37	chr7	23556038	23556038	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatggcttcggctccttcGccgccggtattctggtgtat	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23556038G>A	ENST00000297071.4	-	3	496	c.280C>T	c.(280-282)Cga>Tga	p.R94*	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	94	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CGGCTCCTTCGCCGCCGGTAT	0.443													False	0	False	7:23556038	0	A	23556038	G	A	23556038	4	1	88	1	0	0	0	0	0	1	0	0	16516	1095	38	1	592	1	TRA2A	7	23556038	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164974	23556038	135582625	7945	15657											
CCDC126	90693	broad.mit.edu	37	chr7	23650947	23650947	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcagaaatgttttttacaAtctcaagaaaaaatatgtcc	4	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23650947A>T	ENST00000307471.3	+	3	470	c.13A>T	c.(13-15)Atc>Ttc	p.I5F	CCDC126_ENST00000409765.1_Missense_Mutation_p.I5F|CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Missense_Mutation_p.I5F	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	5						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						GTTTTTTACAATCTCAAGAAA	0.318													False	0	False	7:23650947	0	T	23650947	A	T	23650947	3	4	88	1	0	0	0	0	1	0	0	0	2782	101	4	5	15	5	CCDC126	7	23650947	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	94909	23650947	135487716	7946	15658											
STK31	56164	broad.mit.edu	37	chr7	23749932	23749932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagggtcactcttctagaGcttccgcaacggaaagtgtg	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23749932G>T	ENST00000355870.3	+	1	147	c.28G>T	c.(28-30)Gct>Tct	p.A10S	STK31_ENST00000433467.2_Missense_Mutation_p.A10S	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	10							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCTTCTAGAGCTTCCGCAAC	0.567													False	0	False	7:23749932	0	T	23749932	G	T	23749932	3	4	88	1	0	0	0	0	1	0	0	0	15378	971	34	3	30	3	STK31	7	23749932	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98985	23749932	135388731	7947	15659											
STK31	56164	broad.mit.edu	37	chr7	23775265	23775265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggctgagtatggcagtgtgGatataggggaagaggtgctt	18	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23775265G>A	ENST00000354639.3	+	7	987	c.523G>A	c.(523-525)Gat>Aat	p.D175N	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.D198N|STK31_ENST00000433467.2_Missense_Mutation_p.D198N|STK31_ENST00000428484.1_Missense_Mutation_p.D175N	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	198							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGCAGTGTGGATATAGGGGA	0.398													False	0	False	7:23775265	0	A	23775265	G	A	23775265	3	1	88	1	0	0	0	0	1	0	0	0	15378	1174	41	2	618	2	STK31	7	23775265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25333	23775265	135363398	7948	15660											
STK31	56164	broad.mit.edu	37	chr7	23792445	23792445	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taagatggaaatactgaaagAaatgaggtaggtaaaagcat	11	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23792445A>C	ENST00000354639.3	+	9	1522	c.1058A>C	c.(1057-1059)gAa>gCa	p.E353A	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.E376A|STK31_ENST00000433467.2_Missense_Mutation_p.E376A|STK31_ENST00000428484.1_Missense_Mutation_p.E353A	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	376							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATACTGAAAGAAATGAGGTAG	0.328													False	0	True	7:23792445	0	C	23792445	A	C	23792445	3	2	88	1	0	0	0	0	1	0	0	0	15378	246	9	4	1161	4	STK31	7	23792445	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17180	23792445	135346218	7949	15661											
NPY	4852	broad.mit.edu	37	chr7	24325010	24325010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatggccagatactactcgGcgctgcgacactacatcaac	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24325010G>A	ENST00000407573.1	+	3	441	c.151G>A	c.(151-153)Gcg>Acg	p.A51T	NPY_ENST00000405982.1_Missense_Mutation_p.A51T|NPY_ENST00000242152.2_Missense_Mutation_p.A51T			P01303	NPY_HUMAN	neuropeptide Y	51					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						ATACTACTCGGCGCTGCGACA	0.677													False	0	False	7:24325010	0	A	24325010	G	A	24325010	3	1	88	1	0	0	0	0	1	0	0	0	10675	1203	42	2	153	2	NPY	7	24325010	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	532565	24325010	134813653	7950	15662											
NPY	4852	broad.mit.edu	37	chr7	24329150	24329150	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccagcccagagacactgaTttcagacctcttgatgagag	9	11	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24329150T>G	ENST00000407573.1	+	4	511	c.221T>G	c.(220-222)aTt>aGt	p.I74S	NPY_ENST00000405982.1_Missense_Mutation_p.I74S|NPY_ENST00000242152.2_Missense_Mutation_p.I74S			P01303	NPY_HUMAN	neuropeptide Y	74					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GAGACACTGATTTCAGACCTC	0.418													False	0	True	7:24329150	0	G	24329150	T	G	24329150	3	3	88	1	0	0	0	0	1	0	0	0	10675	1493	52	4	227	4	NPY	7	24329150	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4140	24329150	134809513	7951	15663											
MPP6	51678	broad.mit.edu	37	chr7	24663381	24663381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagggaattatggagaatcCtattgtaaaatcacttgcta	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24663381C>A	ENST00000222644.5	+	2	345	c.95C>A	c.(94-96)cCt>cAt	p.P32H	MPP6_ENST00000396475.2_Missense_Mutation_p.P32H|MPP6_ENST00000409761.1_Intron			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATGGAGAATCCTATTGTAAAA	0.338													False	0	False	7:24663381	0	A	24663381	C	A	24663381	3	1	88	1	0	0	0	0	1	0	0	0	9805	681	24	3	97	3	MPP6	7	24663381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334231	24663381	134475282	7952	15664											
DFNA5	1687	broad.mit.edu	37	chr7	24749866	24749866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctttaaaacacttaatggtCcatcctgggaagatatccca	7	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24749866C>T	ENST00000545231.1	-	8	1497	c.347G>A	c.(346-348)gGa>gAa	p.G116E	DFNA5_ENST00000409970.1_Missense_Mutation_p.G116E|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000342947.3_Missense_Mutation_p.G280E|DFNA5_ENST00000409775.3_Missense_Mutation_p.G280E|DFNA5_ENST00000419307.1_Missense_Mutation_p.G116E			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	280					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ACTTAATGGTCCATCCTGGGA	0.512													False	0	False	7:24749866	0	T	24749866	C	T	24749866	3	4	88	1	0	0	0	0	1	0	0	0	4484	855	30	2	671	2	DFNA5	7	24749866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86485	24749866	134388797	7953	15665											
OSBPL3	26031	broad.mit.edu	37	chr7	24874243	24874243	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accttggacaggtccttcccGatgttgttcctcaggatgtt	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24874243G>A	ENST00000313367.2	-	15	2059	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	OSBPL3_ENST00000353930.1_Silent_p.I500I|OSBPL3_ENST00000431825.2_Silent_p.I469I|OSBPL3_ENST00000396431.1_Silent_p.I505I|OSBPL3_ENST00000352860.1_Silent_p.I505I|OSBPL3_ENST00000409069.1_Silent_p.I469I|OSBPL3_ENST00000396429.1_Silent_p.I500I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	536					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GGTCCTTCCCGATGTTGTTCC	0.622													False	0	True	7:24874243	0	A	24874243	G	A	24874243	2	1	88	1	0	0	0	0	0	0	0	1	11347	1048	37	1		1	OSBPL3	7	24874243	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124377	24874243	134264420	7954	15666											
OSBPL3	26031	broad.mit.edu	37	chr7	24888729	24888729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttggcgacagcgggggagtCgaggagcagagactcggcat	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24888729C>T	ENST00000313367.2	-	12	1676	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D378N|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000396429.1_Intron	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	409					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCGGGGGAGTCGAGGAGCAGA	0.542													False	0	False	7:24888729	0	T	24888729	C	T	24888729	3	4	88	1	0	0	0	0	1	0	0	0	11347	884	31	1	1486	1	OSBPL3	7	24888729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14486	24888729	134249934	7955	15667											
C7orf31	136895	broad.mit.edu	37	chr7	25181949	25181949	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagggggtccatgggccccaGaccttaatggaaacatcacc	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:25181949G>T	ENST00000409280.1	-	9	1170	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	C7orf31_ENST00000283905.3_Missense_Mutation_p.L288M			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	288										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATGGGCCCCAGACCTTAATGG	0.393													False	0	False	7:25181949	0	T	25181949	G	T	25181949	3	4	88	1	0	0	0	0	1	0	0	0	2406	933	33	3	918	3	C7orf31	7	25181949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293220	25181949	133956714	7956	15668											
NFE2L3	9603	broad.mit.edu	37	chr7	26225340	26225340	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgatggaagtatcttgatAgtacccaaagaactggtggc	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26225340A>C	ENST00000056233.3	+	4	2281	c.2022A>C	c.(2020-2022)atA>atC	p.I674I		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	674					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GTATCTTGATAGTACCCAAAG	0.408													False	0	False	7:26225340	0	C	26225340	A	C	26225340	2	2	88	1	0	0	0	0	0	0	0	1	10437	410	15	4		4	NFE2L3	7	26225340	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1043391	26225340	132913323	7957	15669											
CBX3	11335	broad.mit.edu	37	chr7	26251332	26251332	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgatcctgaaagaataatTggtgccacagacagcagtgg	11	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26251332T>C	ENST00000337620.4	+	5	809	c.381T>C	c.(379-381)atT>atC	p.I127I	CBX3_ENST00000409747.1_3'UTR|CBX3_ENST00000396386.2_Silent_p.I127I|CBX3_ENST00000497498.1_3'UTR	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	127	Chromo 2; shadow subtype.				chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						AAAGAATAATTGGTGCCACAG	0.348													False	0	False	7:26251332	0	C	26251332	T	C	26251332	2	2	88	1	0	0	0	0	0	0	0	1	2739	1800	63	4		4	CBX3	7	26251332	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25992	26251332	132887331	7958	15670											
SNX10	29887	broad.mit.edu	37	chr7	26404691	26404691	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagaacttccatctaaAaacctgtttttcaacatgaa	4	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26404691A>C	ENST00000338523.4	+	5	424	c.237A>C	c.(235-237)aaA>aaC	p.K79N	SNX10_ENST00000409838.1_5'UTR|SNX10_ENST00000409367.1_Missense_Mutation_p.K39N|SNX10_ENST00000446848.2_Missense_Mutation_p.K105N|SNX10_ENST00000396376.1_Missense_Mutation_p.K79N	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	79	PX.				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						TTCCATCTAAAAACCTGTTTT	0.413											OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	7:26404691	0	C	26404691	A	C	26404691	3	2	88	1	0	0	0	0	1	0	0	0	14961	11	1	4	251	4	SNX10	7	26404691	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	153359	26404691	132733972	7959	15671											
HOXA1	3198	broad.mit.edu	37	chr7	27135377	27135377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccctgcccactaggaagCggtcgtcgccgccgcaactg	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27135377C>T	ENST00000343060.4	-	1	216	c.155G>A	c.(154-156)cGc>cAc	p.R52H	HOXA1_ENST00000355633.5_Missense_Mutation_p.R52H|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	52						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACTAGGAAGCGGTCGTCGCC	0.662											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	7:27135377	0	T	27135377	C	T	27135377	3	4	88	1	0	0	0	0	1	0	0	0	7335	768	27	1	860	1	HOXA1	7	27135377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	730686	27135377	132003286	7960	15672											
HOXA2	3199	broad.mit.edu	37	chr7	27140427	27140427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgaaatatctacgggaCtgtcgagggaacctggcaaa	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27140427C>T	ENST00000222718.5	-	2	1359	c.1049G>A	c.(1048-1050)aGt>aAt	p.S350N		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	350						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						ATCTACGGGACTGTCGAGGGA	0.448													False	0	False	7:27140427	0	T	27140427	C	T	27140427	3	4	88	1	0	0	0	0	1	0	0	0	7339	565	20	2	85	2	HOXA2	7	27140427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5050	27140427	131998236	7961	15673											
HOXA3	3200	broad.mit.edu	37	chr7	27147792	27147792	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggggcttccctgtatgtgTggggtcccatagctgccgtt	14	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27147792T>C	ENST00000396352.4	-	3	1273	c.1074A>G	c.(1072-1074)ccA>ccG	p.P358P	HOXA3_ENST00000317201.2_Silent_p.P358P|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	358					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCTGTATGTGTGGGGTCCCAT	0.672													False	0	True	7:27147792	0	C	27147792	T	C	27147792	2	2	88	1	0	0	0	0	0	0	0	1	7340	1683	59	4		4	HOXA3	7	27147792	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7365	27147792	131990871	7962	15674											
HOXA3	3200	broad.mit.edu	37	chr7	27147987	27147987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttggagaagggcgggggCgactggggctcatacgggac	21	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27147987C>T	ENST00000396352.4	-	3	1078	c.879G>A	c.(877-879)tcG>tcA	p.S293S	HOXA3_ENST00000317201.2_Silent_p.S293S|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	293					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGGGCGGGGGCGACTGGGGCT	0.706													False	0	True	7:27147987	0	T	27147987	C	T	27147987	2	4	88	1	0	0	0	0	0	0	0	1	7340	755	27	1		1	HOXA3	7	27147987	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195	27147987	131990676	7963	15675											
HOXA3	3200	broad.mit.edu	37	chr7	27150148	27150148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccgtcggcgcccaaagCggcggacgccgggtacggct	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27150148C>T	ENST00000396352.4	-	2	311	c.112G>A	c.(112-114)Gct>Act	p.A38T	HOXA3_ENST00000317201.2_Missense_Mutation_p.A38T|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	38					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCGCCCAAAGCGGCGGACGCC	0.667													False	0	False	7:27150148	0	T	27150148	C	T	27150148	3	4	88	1	0	0	0	0	1	0	0	0	7340	768	27	1	1227	1	HOXA3	7	27150148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2161	27150148	131988515	7964	15676											
HOXA4	3201	broad.mit.edu	37	chr7	27168987	27168987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtgttgggcagtttgtGgtctttcttccacttcatcc	10	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27168987G>A	ENST00000360046.5	-	2	885	c.820C>T	c.(820-822)Cac>Tac	p.H274Y	HOXA3_ENST00000521401.1_Intron|HOXA4_ENST00000428284.2_Missense_Mutation_p.H274Y|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	274						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						GGCAGTTTGTGGTCTTTCTTC	0.597													False	0	False	7:27168987	0	A	27168987	G	A	27168987	3	1	88	1	0	0	0	0	1	0	0	0	7341	1348	47	2	146	2	HOXA4	7	27168987	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18839	27168987	131969676	7965	15677											
HOXA4	3201	broad.mit.edu	37	chr7	27170305	27170305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcctcgaagggagggaaCttgggctcgatgtagttgga	15	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27170305C>T	ENST00000360046.5	-	1	113	c.48G>A	c.(46-48)aaG>aaA	p.K16K	HOXA3_ENST00000521401.1_Intron|HOXA4_ENST00000428284.2_Silent_p.K16K|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	16	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGGGAGGGAACTTGGGCTCGA	0.582													False	0	False	7:27170305	0	T	27170305	C	T	27170305	2	4	88	1	0	0	0	0	0	0	0	1	7341	564	20	2		2	HOXA4	7	27170305	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1318	27170305	131968358	7966	15678											
HOXA5	3202	broad.mit.edu	37	chr7	27182814	27182814	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaccccctctctgctgCtgatgtgggtgctgccggcg	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27182814C>A	ENST00000222726.3	-	1	473	c.413G>T	c.(412-414)aGc>aTc	p.S138I	HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	138					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CTCTCTGCTGCTGATGTGGGT	0.746													False	0	True	7:27182814	0	A	27182814	C	A	27182814	3	1	88	1	0	0	0	0	1	0	0	0	7342	797	28	3	407	3	HOXA5	7	27182814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12509	27182814	131955849	7967	15679											
HOXA7	3204	broad.mit.edu	37	chr7	27194583	27194583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcgtcggccttgtccGcggcagcagtggcggcggca	15	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27194583G>A	ENST00000242159.3	-	2	771	c.638C>T	c.(637-639)gCg>gTg	p.A213V	HOXA-AS3_ENST00000518947.2_RNA|HOXA7_ENST00000523796.2_5'UTR	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	213					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						ggccttgtccGCGGCAGCAGT	0.652													False	0	False	7:27194583	0	A	27194583	G	A	27194583	3	1	88	1	0	0	0	0	1	0	0	0	7344	1087	38	1	58	1	HOXA7	7	27194583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11769	27194583	131944080	7968	15680											
HOXA9	3205	broad.mit.edu	37	chr7	27204771	27204771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatgtacctgccgtccggCgccgccgccgccacgggcgc	14	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27204771C>T	ENST00000343483.6	-	1	378	c.306G>A	c.(304-306)gcG>gcA	p.A102A	HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000396345.1_Silent_p.A102A|RP1-170O19.20_ENST00000470747.4_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	102							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TGCCGTCCGGCGCCGCCGCCG	0.711			T	"NUP98, MSI2"	AML*								False	0	True	7:27204771	0	T	27204771	C	T	27204771	2	4	88	1	0	0	0	0	0	0	0	1	7345	755	27	1		1	HOXA9	7	27204771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10188	27204771	131933892	7969	15681											
HOXA11	3207	broad.mit.edu	37	chr7	27222562	27222562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcgcttctctttgttaatGtagacgctgaagaagaactc	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27222562G>A	ENST00000006015.3	-	2	866	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	265					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CTTTGTTAATGTAGACGCTGA	0.493			T	NUP98	CML								False	0	False	7:27222562	0	A	27222562	G	A	27222562	2	1	88	1	0	0	0	0	0	0	0	1	7337	1372	48	2		2	HOXA11	7	27222562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17791	27222562	131916101	7970	15682											
HOXA13	3209	broad.mit.edu	37	chr7	27239044	27239044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgggagctgaactcctcgGcagctgggccggcggtatcc	16	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27239044G>A	ENST00000222753.4	-	1	681	c.653C>T	c.(652-654)gCc>gTc	p.A218V	HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	218					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GAACTCCTCGGCAGCTGGGCC	0.692			T	NUP98	AML								False	0	False	7:27239044	0	A	27239044	G	A	27239044	3	1	88	1	0	0	0	0	1	0	0	0	7338	1203	42	2	521	2	HOXA13	7	27239044	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16482	27239044	131899619	7971	15683											
EVX1	2128	broad.mit.edu	37	chr7	27283025	27283025	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctatgaagaaatcgaggtgAgctgcaccccggactgcgcc	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27283025A>G	ENST00000496902.4	+	1	862	c.376A>G	c.(376-378)Agc>Ggc	p.S126G	EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Intron|EVX1_ENST00000535619.1_Intron			P49640	EVX1_HUMAN	even-skipped homeobox 1	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						AATCGAGGTGAGCTGCACCCC	0.682													False	0	False	7:27283025	0	G	27283025	A	G	27283025	3	3	88	1	0	0	0	0	1	0	0	0	5326	304	11	4	378	4	EVX1	7	27283025	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43981	27283025	131855638	7972	15684											
EVX1	2128	broad.mit.edu	37	chr7	27284774	27284774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcaccctggcgtgcagcGccagtgaccagatgcgtcgt	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27284774G>A	ENST00000496902.4	+	2	1021	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Silent_p.A160A|EVX1_ENST00000535619.1_5'UTR			P49640	EVX1_HUMAN	even-skipped homeobox 1	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GGCGTGCAGCGCCAGTGACCA	0.672													False	0	False	7:27284774	0	A	27284774	G	A	27284774	3	1	88	1	0	0	0	0	1	0	0	0	5326	1087	38	1	541	1	EVX1	7	27284774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1749	27284774	131853889	7973	15685											
HIBADH	11112	broad.mit.edu	37	chr7	27565856	27565856	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtctcctcctctcgtaGgaactggaacacggatgaga	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27565856G>T	ENST00000265395.2	-	8	1194	c.988C>A	c.(988-990)Cta>Ata	p.L330I		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	330					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	TCCTCTCGTAGGAACTGGAAC	0.502													False	0	False	7:27565856	0	T	27565856	G	T	27565856	3	4	88	1	0	0	0	0	1	0	0	0	7146	991	35	3	26	3	HIBADH	7	27565856	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	281082	27565856	131572807	7974	15686											
HIBADH	11112	broad.mit.edu	37	chr7	27669044	27669044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattttctcaacttctttggCcaattcttttgaaactgcag	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27669044C>T	ENST00000265395.2	-	4	636	c.430G>A	c.(430-432)Gcc>Acc	p.A144T		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	144					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ACTTCTTTGGCCAATTCTTTT	0.333													False	0	False	7:27669044	0	T	27669044	C	T	27669044	3	4	88	1	0	0	0	0	1	0	0	0	7146	739	26	2	600	2	HIBADH	7	27669044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103188	27669044	131469619	7975	15687											
TAX1BP1	8887	broad.mit.edu	37	chr7	27797740	27797740	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaacagtcaattgtgtaCtagcattccaaggtaaggac	9	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27797740C>T	ENST00000396319.2	+	3	341	c.253C>T	c.(253-255)Cta>Tta	p.L85L	TAX1BP1_ENST00000543117.1_Silent_p.L85L|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000409980.1_Silent_p.L85L|TAX1BP1_ENST00000265393.6_Silent_p.L85L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	85					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CAATTGTGTACTAGCATTCCA	0.388													False	0	False	7:27797740	0	T	27797740	C	T	27797740	2	4	88	1	0	0	0	0	0	0	0	1	15676	564	20	2		2	TAX1BP1	7	27797740	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128696	27797740	131340923	7976	15688											
TAX1BP1	8887	broad.mit.edu	37	chr7	27824902	27824902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtcagtaacacataaaGcaattgaaaaagaaaccgaa	7	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27824902G>T	ENST00000396319.2	+	6	821	c.733G>T	c.(733-735)Gca>Tca	p.A245S	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.A88S|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A245S|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A245S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	245					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AACACATAAAGCAATTGAAAA	0.279													False	0	True	7:27824902	0	T	27824902	G	T	27824902	3	4	88	1	0	0	0	0	1	0	0	0	15676	971	34	3	751	3	TAX1BP1	7	27824902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27162	27824902	131313761	7977	15689											
JAZF1	221895	broad.mit.edu	37	chr7	28220184	28220184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagaaggaggcggcggCgatgcctgtcatggtgctac	18	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:28220184C>T	ENST00000283928.5	-	1	178	c.13G>A	c.(13-15)Gcc>Acc	p.A5T	JAZF1-AS1_ENST00000436758.1_RNA|JAZF1-AS1_ENST00000455963.1_RNA	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	5					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						GAGGCGGCGGCGATGCCTGTC	0.677			T	SUZ12	endometrial stromal tumours								False	0	True	7:28220184	0	T	28220184	C	T	28220184	3	4	88	1	0	0	0	0	1	0	0	0	7996	768	27	1	738	1	JAZF1	7	28220184	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	395282	28220184	130918479	7978	15690											
CHN2	1124	broad.mit.edu	37	chr7	29552224	29552224	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgaatgcagaaaatcTggggatcgtgtttgggccca	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29552224T>G	ENST00000222792.6	+	13	1810	c.1280T>G	c.(1279-1281)cTg>cGg	p.L427R	CHN2_ENST00000421775.2_Missense_Mutation_p.L233R|CHN2_ENST00000539406.1_Missense_Mutation_p.L502R|CHN2_ENST00000495789.2_Missense_Mutation_p.L440R|CHN2_ENST00000546235.1_Missense_Mutation_p.L412R|CHN2_ENST00000409041.4_Missense_Mutation_p.L291R|CHN2_ENST00000424025.2_Missense_Mutation_p.L246R|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000439711.2_Missense_Mutation_p.L245R|CHN2_ENST00000435288.2_Missense_Mutation_p.L151R|CHN2_ENST00000539389.1_Missense_Mutation_p.L283R	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	427	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GCAGAAAATCTGGGGATCGTG	0.428													False	0	True	7:29552224	0	G	29552224	T	G	29552224	3	3	88	1	0	0	0	0	1	0	0	0	3386	1580	55	4	1498	4	CHN2	7	29552224	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1332040	29552224	129586439	7979	15691											
SCRN1	9805	broad.mit.edu	37	chr7	29963631	29963631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaggtcccccacttccGcagggtccagtggctcggag	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29963631G>A	ENST00000426154.1	-	8	1363	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	SCRN1_ENST00000409497.1_Missense_Mutation_p.A396V|SCRN1_ENST00000434476.2_Missense_Mutation_p.A416V|SCRN1_ENST00000242059.5_Missense_Mutation_p.A396V|SCRN1_ENST00000416113.2_Missense_Mutation_p.A222V|SCRN1_ENST00000425819.2_Missense_Mutation_p.A328V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	396					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCCCACTTCCGCAGGGTCCAG	0.522													False	0	False	7:29963631	0	A	29963631	G	A	29963631	3	1	88	1	0	0	0	0	1	0	0	0	14019	1087	38	1	61	1	SCRN1	7	29963631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	411407	29963631	129175032	7980	15692											
SCRN1	9805	broad.mit.edu	37	chr7	29963698	29963698	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggccttgcttctccagctCcagcatggtgctcctcagct	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29963698C>A	ENST00000426154.1	-	8	1296	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	SCRN1_ENST00000409497.1_Nonsense_Mutation_p.E374*|SCRN1_ENST00000434476.2_Nonsense_Mutation_p.E394*|SCRN1_ENST00000242059.5_Nonsense_Mutation_p.E374*|SCRN1_ENST00000416113.2_Nonsense_Mutation_p.E200*|SCRN1_ENST00000425819.2_Nonsense_Mutation_p.E306*	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	374					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TTCTCCAGCTCCAGCATGGTG	0.552													False	0	True	7:29963698	0	A	29963698	C	A	29963698	4	1	88	1	0	0	0	0	0	1	0	0	14019	864	30	3	128	3	SCRN1	7	29963698	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	29963698	129174965	7981	15693											
SCRN1	9805	broad.mit.edu	37	chr7	29983622	29983622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggcagcccagtacttcCctatggtctcgagcacccag	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29983622C>T	ENST00000426154.1	-	4	691	c.515G>A	c.(514-516)gGg>gAg	p.G172E	SCRN1_ENST00000409497.1_Missense_Mutation_p.G172E|SCRN1_ENST00000434476.2_Missense_Mutation_p.G192E|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172E|SCRN1_ENST00000416113.2_Missense_Mutation_p.G63E|SCRN1_ENST00000425819.2_Missense_Mutation_p.G104E	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	172					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCAGTACTTCCCTATGGTCTC	0.532													False	0	True	7:29983622	0	T	29983622	C	T	29983622	3	4	88	1	0	0	0	0	1	0	0	0	14019	623	22	2	749	2	SCRN1	7	29983622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19924	29983622	129155041	7982	15694											
SCRN1	9805	broad.mit.edu	37	chr7	29983760	29983760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagacaatgacatctaagGcttctttagctgtttcccct	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29983760G>T	ENST00000426154.1	-	4	553	c.377C>A	c.(376-378)gCc>gAc	p.A126D	SCRN1_ENST00000409497.1_Missense_Mutation_p.A126D|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000434476.2_Missense_Mutation_p.A146D|SCRN1_ENST00000242059.5_Missense_Mutation_p.A126D|SCRN1_ENST00000416113.2_Missense_Mutation_p.A17D|SCRN1_ENST00000425819.2_Missense_Mutation_p.A58D	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	126					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GACATCTAAGGCTTCTTTAGC	0.423													False	0	False	7:29983760	0	T	29983760	G	T	29983760	3	4	88	1	0	0	0	0	1	0	0	0	14019	1203	42	3	887	3	SCRN1	7	29983760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138	29983760	129154903	7983	15695											
PLEKHA8	84725	broad.mit.edu	37	chr7	30100541	30100541	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgctcctgttaagatggatCttgttggaaatattaaggtg	11	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30100541C>A	ENST00000449726.1	+	10	1431	c.1081C>A	c.(1081-1083)Ctt>Att	p.L361I	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.L361I|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.L361I	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	361				MDLVGNI -> DGSCWKY (in Ref. 4; AAG48267).	protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TAAGATGGATCTTGTTGGAAA	0.323													False	0	False	7:30100541	0	A	30100541	C	A	30100541	3	1	88	1	0	0	0	0	1	0	0	0	12131	913	32	3	1119	3	PLEKHA8	7	30100541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116781	30100541	129038122	7984	15696											
C7orf41	0	broad.mit.edu	37	chr7	30174882	30174882	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggcgtctccttctatgtgCtgtgtccggacaacggctgc	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30174882C>A	ENST00000324453.8	+	1	457	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	C7orf41_ENST00000409688.1_Missense_Mutation_p.L44M|C7orf41_ENST00000415604.1_Missense_Mutation_p.L44M	NM_152793.2	NP_690006.2	Q8N3F0	CG041_HUMAN		44										NS(1)|large_intestine(2)	3						CTTCTATGTGCTGTGTCCGGA	0.657													False	0	False	7:30174882	0	A	30174882	C	A	30174882	3	1	88	1	0	0	0	0	1	0	0	0	2410	796	28	3	132	3	C7orf41	7	30174882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74341	30174882	128963781	7985	15697											
NOD1	10392	broad.mit.edu	37	chr7	30490965	30490965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagggcgctgcagtcggCcgagcaggcgttgcagtagg	20	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30490965C>T	ENST00000222823.4	-	6	2593	c.2068G>A	c.(2068-2070)Gcc>Acc	p.A690T		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	690					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CTGCAGTCGGCCGAGCAGGCG	0.627													False	0	False	7:30490965	0	T	30490965	C	T	30490965	3	4	88	1	0	0	0	0	1	0	0	0	10584	739	26	2	829	2	NOD1	7	30490965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316083	30490965	128647698	7986	15698											
NOD1	10392	broad.mit.edu	37	chr7	30491717	30491717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttccgctgcaccaggctgCtgggctgcatcctgttcaga	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30491717C>A	ENST00000222823.4	-	6	1841	c.1316G>T	c.(1315-1317)aGc>aTc	p.S439I		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	439	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CACCAGGCTGCTGGGCTGCAT	0.652													False	0	False	7:30491717	0	A	30491717	C	A	30491717	3	1	88	1	0	0	0	0	1	0	0	0	10584	797	28	3	1581	3	NOD1	7	30491717	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	752	30491717	128646946	7987	15699											
NOD1	10392	broad.mit.edu	37	chr7	30496420	30496420	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttcagcaagttgtccaccaGacactgagtattgcggatgt	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30496420G>T	ENST00000222823.4	-	4	643	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	NOD1_ENST00000423334.2_Missense_Mutation_p.L40M	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	40	CARD.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TTGTCCACCAGACACTGAGTA	0.527													False	0	False	7:30496420	0	T	30496420	G	T	30496420	3	4	88	1	0	0	0	0	1	0	0	0	10584	933	33	3	2787	3	NOD1	7	30496420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4703	30496420	128642243	7988	15700											
GARS	2617	broad.mit.edu	37	chr7	30638502	30638502	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcaaagcccgcaagagggttCtggaagcaaaggtgagtcct	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30638502C>A	ENST00000389266.3	+	2	554	c.313C>A	c.(313-315)Ctg>Atg	p.L105M		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	105	WHEP-TRS.				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAGAGGGTTCTGGAAGCAAA	0.438													False	0	False	7:30638502	0	A	30638502	C	A	30638502	3	1	88	1	0	0	0	0	1	0	0	0	6285	912	32	3	319	3	GARS	7	30638502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142082	30638502	128500161	7989	15701											
GARS	2617	broad.mit.edu	37	chr7	30639665	30639665	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcttttgctatttatggaGgtaagggattaatgacaaaa	10	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30639665G>T	ENST00000389266.3	+	3	668	c.427G>T	c.(427-429)Ggt>Tgt	p.G143C		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	143					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TATTTATGGAGGTAAGGGATT	0.378													False	0	False	7:30639665	0	T	30639665	G	T	30639665	5	4	88	1	0	0	0	0	0	0	1	0	6285	1014	35	3	437	3	GARS	7	30639665	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1163	30639665	128498998	7990	15702											
GARS	2617	broad.mit.edu	37	chr7	30640803	30640803	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attgcaccatgctcacccctGagccagttttaaagtgagat	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30640803G>A	ENST00000389266.3	+	4	797	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	186					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GCTCACCCCTGAGCCAGTTTT	0.368													False	0	False	7:30640803	0	A	30640803	G	A	30640803	3	1	88	1	0	0	0	0	1	0	0	0	6285	1291	45	2	570	2	GARS	7	30640803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1138	30640803	128497860	7991	15703											
GARS	2617	broad.mit.edu	37	chr7	30656818	30656818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatctccagataaactccGcttccggcagcacatggaga	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30656818G>A	ENST00000389266.3	+	10	1524	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	428					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GATAAACTCCGCTTCCGGCAG	0.458													False	0	False	7:30656818	0	A	30656818	G	A	30656818	3	1	88	1	0	0	0	0	1	0	0	0	6285	1087	38	1	1321	1	GARS	7	30656818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16015	30656818	128481845	7992	15704											
CRHR2	1395	broad.mit.edu	37	chr7	30693138	30693138	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtgatgtagggatggAcatggcccgggccatgggga	20	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30693138A>G	ENST00000471646.1	-	12	1591	c.1174T>C	c.(1174-1176)Tcc>Ccc	p.S392P	CRHR2_ENST00000348438.4_Missense_Mutation_p.S419P|CRHR2_ENST00000341843.4_Missense_Mutation_p.S378P|CRHR2_ENST00000506074.2_3'UTR	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	392					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTAGGGATGGACATGGCCCGG	0.652													False	0	False	7:30693138	0	G	30693138	A	G	30693138	3	3	88	1	0	0	0	0	1	0	0	0	3895	275	10	4	65	4	CRHR2	7	30693138	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36320	30693138	128445525	7993	15705											
FAM188B	84182	broad.mit.edu	37	chr7	30876373	30876373	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccaattgacctctcagTagcaaaggtaagtgtaagga	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30876373T>C	ENST00000265299.6	+	7	1309	c.1232T>C	c.(1231-1233)gTa>gCa	p.V411A	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	411										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCTCTCAGTAGCAAAGGTA	0.458													False	0	False	7:30876373	0	C	30876373	T	C	30876373	3	2	88	1	0	0	0	0	1	0	0	0	5551	1638	57	4	1258	4	FAM188B	7	30876373	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	183235	30876373	128262290	7994	15706											
GHRHR	2692	broad.mit.edu	37	chr7	31016139	31016139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgctggcctgggcatccGcctccccctggagctgggac	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31016139G>A	ENST00000409904.3	+	8	1136	c.878G>A	c.(877-879)cGc>cAc	p.R293H	GHRHR_ENST00000409316.1_Silent_p.P123P|GHRHR_ENST00000326139.2_Missense_Mutation_p.R357H|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	357					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CTGGGCATCCGCCTCCCCCTG	0.577													False	0	False	7:31016139	0	A	31016139	G	A	31016139	3	1	88	1	0	0	0	0	1	0	0	0	6418	1087	38	1	1152	1	GHRHR	7	31016139	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139766	31016139	128122524	7995	15707											
NEUROD6	63974	broad.mit.edu	37	chr7	31378244	31378244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggagtggtgagctcaggGctgtggtagggtgggtagaa	23	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31378244G>A	ENST00000297142.3	-	2	961	c.639C>T	c.(637-639)agC>agT	p.S213S		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	213					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TGAGCTCAGGGCTGTGGTAGG	0.527													False	0	True	7:31378244	0	A	31378244	G	A	31378244	2	1	88	1	0	0	0	0	0	0	0	1	10419	1194	42	2		2	NEUROD6	7	31378244	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	362105	31378244	127760419	7996	15708											
NEUROD6	63974	broad.mit.edu	37	chr7	31378468	31378468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagatgtagtttttggCcagtcgtaaagtctctattt	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31378468C>T	ENST00000297142.3	-	2	737	c.415G>A	c.(415-417)Gcc>Acc	p.A139T		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	139	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TAGTTTTTGGCCAGTCGTAAA	0.458													False	0	False	7:31378468	0	T	31378468	C	T	31378468	3	4	88	1	0	0	0	0	1	0	0	0	10419	739	26	2	602	2	NEUROD6	7	31378468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224	31378468	127760195	7997	15709											
CCDC129	223075	broad.mit.edu	37	chr7	31618023	31618023	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtctcatcttgcaggcaaagGaccagactcatttgaaatgg	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31618023G>T	ENST00000409210.1	+	6	1053	c.869G>T	c.(868-870)gGa>gTa	p.G290V	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.G382V|CCDC129_ENST00000451887.2_Missense_Mutation_p.G408V			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	382										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCAGGCAAAGGACCAGACTCA	0.483													False	0	False	7:31618023	0	T	31618023	G	T	31618023	3	4	88	1	0	0	0	0	1	0	0	0	2784	1174	41	3	1171	3	CCDC129	7	31618023	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	239555	31618023	127520640	7998	15710											
CCDC129	223075	broad.mit.edu	37	chr7	31682312	31682312	+	Missense_Mutation	SNP	A	A	C													acagatgccttccttgccaaAcagccagagtcctgctgaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682312A>C	ENST00000319386.3	+	11	1877	c.884A>C	c.(883-885)aAc>aCc	p.N295T	CCDC129_ENST00000409210.1_Missense_Mutation_p.N351T|CCDC129_ENST00000407970.3_Missense_Mutation_p.N443T|CCDC129_ENST00000451887.2_Missense_Mutation_p.N469T			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	443										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCTTGCCAAACAGCCAGAGT	0.493													False	0	True	7:31682312	0	C	31682312	A	C	31682312	3	2	88	1	0	0	0	0	1	0	0	0	2784	43	2	4	1366	4	CCDC129	7	31682312	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64289	31682312	127456351	7999	15711	194	2									
CCDC129	223075	broad.mit.edu	37	chr7	31682321	31682321	+	Missense_Mutation	SNP	G	G	T													ttccttgccaaacagccagaGtcctgctgagaatggaggta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682321G>T	ENST00000319386.3	+	11	1886	c.893G>T	c.(892-894)aGt>aTt	p.S298I	CCDC129_ENST00000409210.1_Missense_Mutation_p.S354I|CCDC129_ENST00000407970.3_Missense_Mutation_p.S446I|CCDC129_ENST00000451887.2_Missense_Mutation_p.S472I			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	446										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AACAGCCAGAGTCCTGCTGAG	0.493													False	0	False	7:31682321	0	T	31682321	G	T	31682321	3	4	88	1	0	0	0	0	1	0	0	0	2784	1029	36	3	1375	3	CCDC129	7	31682321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9	31682321	127456342	8000	15712	194	2									
CCDC129	223075	broad.mit.edu	37	chr7	31682385	31682385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttagtatcatcccaggaCtgtcagctagagtcggatgg	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682385C>T	ENST00000319386.3	+	11	1950	c.957C>T	c.(955-957)gaC>gaT	p.D319D	CCDC129_ENST00000409210.1_Silent_p.D375D|CCDC129_ENST00000407970.3_Silent_p.D467D|CCDC129_ENST00000451887.2_Silent_p.D493D			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	467										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CATCCCAGGACTGTCAGCTAG	0.507													False	0	False	7:31682385	0	T	31682385	C	T	31682385	2	4	88	1	0	0	0	0	0	0	0	1	2784	564	20	2		2	CCDC129	7	31682385	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64	31682385	127456278	8001	15713											
AVL9	23080	broad.mit.edu	37	chr7	32598658	32598658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattttgtttctgcatccaCtgctgatgtttcacatacca	6	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:32598658C>T	ENST00000318709.4	+	10	1018	c.797C>T	c.(796-798)aCt>aTt	p.T266I	AVL9_ENST00000404479.1_Missense_Mutation_p.T266I|AVL9_ENST00000409301.1_Missense_Mutation_p.T266I	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	266						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTGCATCCACTGCTGATGTT	0.458													False	0	False	7:32598658	0	T	32598658	C	T	32598658	3	4	88	1	0	0	0	0	1	0	0	0	1232	565	20	2	835	2	AVL9	7	32598658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	916273	32598658	126540005	8002	15714											
KBTBD2	25948	broad.mit.edu	37	chr7	32910180	32910180	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcaattctgatttggctaaGaacagaagacaaatactggg	9	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:32910180G>A	ENST00000304056.4	-	4	1348	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	217										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATTTGGCTAAGAACAGAAGAC	0.413													False	0	False	7:32910180	0	A	32910180	G	A	32910180	3	1	88	1	0	0	0	0	1	0	0	0	8043	942	33	2	1226	2	KBTBD2	7	32910180	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311522	32910180	126228483	8003	15715											
BMPER	168667	broad.mit.edu	37	chr7	34101630	34101630	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttagggcaaaattctcaacaGaaaaggatgctgtcctattt	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:34101630G>A	ENST00000297161.2	+	12	1423	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K	BMPER_ENST00000426693.1_Missense_Mutation_p.R350K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	350	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATTCTCAACAGAAAAGGATGC	0.289													False	0	True	7:34101630	0	A	34101630	G	A	34101630	3	1	88	1	0	0	0	0	1	0	0	0	1473	942	33	2	1091	2	BMPER	7	34101630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1191450	34101630	125037033	8004	15716											
BMPER	168667	broad.mit.edu	37	chr7	34118487	34118487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagcccggcgtttgcacggTgtttggagatccccactaca	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:34118487T>C	ENST00000297161.2	+	13	1471	c.1097T>C	c.(1096-1098)gTg>gCg	p.V366A	BMPER_ENST00000426693.1_Missense_Mutation_p.V366A	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	366	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTTTGCACGGTGTTTGGAGAT	0.537													False	0	False	7:34118487	0	C	34118487	T	C	34118487	3	2	88	1	0	0	0	0	1	0	0	0	1473	1696	59	4	1143	4	BMPER	7	34118487	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16857	34118487	125020176	8005	15717											
TBX20	57057	broad.mit.edu	37	chr7	35284653	35284653	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaccggtaaaaggagaatCtggatgcacatagagcctaa	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35284653C>A	ENST00000408931.3	-	4	1088	c.562G>T	c.(562-564)Gat>Tat	p.D188Y		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	188						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AAAGGAGAATCTGGATGCACA	0.368													False	0	False	7:35284653	0	A	35284653	C	A	35284653	3	1	88	1	0	0	0	0	1	0	0	0	15738	913	32	3	802	3	TBX20	7	35284653	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1166166	35284653	123854010	8006	15718											
TBX20	57057	broad.mit.edu	37	chr7	35293166	35293166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccgccgctcgacatgagCgcggcaatggagaaggcgtt	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35293166C>T	ENST00000408931.3	-	1	592	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	22						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TCGACATGAGCGCGGCAATGG	0.657													False	0	False	7:35293166	0	T	35293166	C	T	35293166	2	4	88	1	0	0	0	0	0	0	0	1	15738	755	27	1		1	TBX20	7	35293166	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8513	35293166	123845497	8007	15719											
EEPD1	80820	broad.mit.edu	37	chr7	36194638	36194638	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggacctggacctgccgccAggggggcccacccagattat	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36194638A>G	ENST00000242108.4	+	2	1423	c.705A>G	c.(703-705)ccA>ccG	p.P235P	EEPD1_ENST00000534978.1_Silent_p.P235P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	235					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ACCTGCCGCCAGGGGGGCCCA	0.667													False	0	True	7:36194638	0	G	36194638	A	G	36194638	2	3	88	1	0	0	0	0	0	0	0	1	4962	175	7	4		4	EEPD1	7	36194638	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	901472	36194638	122944025	8008	15720											
EEPD1	80820	broad.mit.edu	37	chr7	36324351	36324351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcatggagctgagagaCgcgggttcacaggagagctc	17	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36324351C>T	ENST00000242108.4	+	5	1816	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D	EEPD1_ENST00000534978.1_Silent_p.D366D	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	366					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGCTGAGAGACGCGGGTTCAC	0.657													False	0	True	7:36324351	0	T	36324351	C	T	36324351	2	4	88	1	0	0	0	0	0	0	0	1	4962	535	19	1		1	EEPD1	7	36324351	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129713	36324351	122814312	8009	15721											
EEPD1	80820	broad.mit.edu	37	chr7	36336643	36336643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggggattttggccaagggCcagacagcaatgactatgat	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36336643C>T	ENST00000242108.4	+	7	2075	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	EEPD1_ENST00000534978.1_Missense_Mutation_p.P453S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	453					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TGGCCAAGGGCCAGACAGCAA	0.468													False	0	True	7:36336643	0	T	36336643	C	T	36336643	3	4	88	1	0	0	0	0	1	0	0	0	4962	739	26	2	1379	2	EEPD1	7	36336643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12292	36336643	122802020	8010	15722											
KIAA0895	23366	broad.mit.edu	37	chr7	36370598	36370598	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctactcaccttcccgAgagcagtcagcagatggaag	11	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36370598A>C	ENST00000317020.6	-	5	1544	c.1244T>G	c.(1243-1245)cTc>cGc	p.L415R	KIAA0895_ENST00000436884.1_Missense_Mutation_p.L363R|KIAA0895_ENST00000440378.1_Missense_Mutation_p.L463R|KIAA0895_ENST00000338533.5_Missense_Mutation_p.L453R|KIAA0895_ENST00000297063.6_Missense_Mutation_p.L466R|KIAA0895_ENST00000453212.1_Missense_Mutation_p.L221R	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	466										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACCTTCCCGAGAGCAGTCAG	0.463													False	0	False	7:36370598	0	C	36370598	A	C	36370598	3	2	88	1	0	0	0	0	1	0	0	0	8247	304	11	4	173	4	KIAA0895	7	36370598	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33955	36370598	122768065	8011	15723											
KIAA0895	23366	broad.mit.edu	37	chr7	36373480	36373480	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccacctggttgggaagtatCagtccatcccctcttggccc	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36373480C>A	ENST00000317020.6	-	4	1438	c.1138G>T	c.(1138-1140)Gat>Tat	p.D380Y	KIAA0895_ENST00000436884.1_Missense_Mutation_p.D328Y|KIAA0895_ENST00000440378.1_Missense_Mutation_p.D428Y|KIAA0895_ENST00000338533.5_Missense_Mutation_p.D418Y|KIAA0895_ENST00000297063.6_Missense_Mutation_p.D431Y|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000453212.1_Missense_Mutation_p.D186Y	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	431										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGGGAAGTATCAGTCCATCCC	0.413													False	0	False	7:36373480	0	A	36373480	C	A	36373480	3	1	88	1	0	0	0	0	1	0	0	0	8247	826	29	3	283	3	KIAA0895	7	36373480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2882	36373480	122765183	8012	15724											
ANLN	54443	broad.mit.edu	37	chr7	36446155	36446155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatgcgtctttggttaatGcctcaatttccagctctgtg	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36446155G>A	ENST00000265748.2	+	4	1074	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	ANLN_ENST00000396068.2_Missense_Mutation_p.A285T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	285	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTGGTTAATGCCTCAATTTC	0.418													False	0	False	7:36446155	0	A	36446155	G	A	36446155	3	1	88	1	0	0	0	0	1	0	0	0	694	1319	46	2	867	2	ANLN	7	36446155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72675	36446155	122692508	8013	15725											
ANLN	54443	broad.mit.edu	37	chr7	36464161	36464161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatttttccaggcaagatGtatccaatgactttgaaata	6	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36464161G>A	ENST00000265748.2	+	16	2832	c.2611G>A	c.(2611-2613)Gta>Ata	p.V871I	ANLN_ENST00000396068.2_Missense_Mutation_p.V834I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	871	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGGCAAGATGTATCCAATGA	0.294													False	0	False	7:36464161	0	A	36464161	G	A	36464161	3	1	88	1	0	0	0	0	1	0	0	0	694	1377	48	2	2673	2	ANLN	7	36464161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18006	36464161	122674502	8014	15726											
ANLN	54443	broad.mit.edu	37	chr7	36489433	36489433	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagccaatgcagggacacaCtctgtgttaccaagtatgta	9	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36489433C>A	ENST00000265748.2	+	23	3459	c.3238C>A	c.(3238-3240)Ctc>Atc	p.L1080I	ANLN_ENST00000396068.2_Missense_Mutation_p.L1043I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1080	Localization to the cleavage furrow.|PH.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGGGACACACTCTGTGTTAC	0.393													False	0	True	7:36489433	0	A	36489433	C	A	36489433	3	1	88	1	0	0	0	0	1	0	0	0	694	565	20	3	3328	3	ANLN	7	36489433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25272	36489433	122649230	8015	15727											
ELMO1	9844	broad.mit.edu	37	chr7	36895162	36895162	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccggccacttcagttAcagtcatagacgaagtcata	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36895162A>G	ENST00000310758.4	-	22	2825	c.2178T>C	c.(2176-2178)tgT>tgC	p.C726C	ELMO1_ENST00000442504.1_Silent_p.C726C|ELMO1_ENST00000396045.3_Silent_p.C246C|ELMO1_ENST00000448602.1_Silent_p.C726C|ELMO1_ENST00000341056.3_Silent_p.C428C|ELMO1_ENST00000396040.2_Silent_p.C246C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	726					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CACTTCAGTTACAGTCATAGA	0.542													False	0	False	7:36895162	0	G	36895162	A	G	36895162	2	3	88	1	0	0	0	0	0	0	0	1	5097	389	14	4		4	ELMO1	7	36895162	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	405729	36895162	122243501	8016	15728											
ELMO1	9844	broad.mit.edu	37	chr7	36901286	36901286	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgcttgtcaggagcgatgAagttcagttggcagtttgag	14	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36901286A>C	ENST00000310758.4	-	21	2608	c.1961T>G	c.(1960-1962)tTc>tGc	p.F654C	ELMO1_ENST00000442504.1_Missense_Mutation_p.F654C|ELMO1_ENST00000396045.3_Missense_Mutation_p.F174C|ELMO1_ENST00000448602.1_Missense_Mutation_p.F654C|ELMO1_ENST00000341056.3_Missense_Mutation_p.F356C|ELMO1_ENST00000396040.2_Missense_Mutation_p.F174C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	654	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AGGAGCGATGAAGTTCAGTTG	0.388													False	0	False	7:36901286	0	C	36901286	A	C	36901286	3	2	88	1	0	0	0	0	1	0	0	0	5097	246	9	4	230	4	ELMO1	7	36901286	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6124	36901286	122237377	8017	15729											
ELMO1	9844	broad.mit.edu	37	chr7	37264604	37264604	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accgctgcaggatcgagatgTctatggctgacttgttcaca	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37264604T>A	ENST00000310758.4	-	9	1228	c.581A>T	c.(580-582)gAc>gTc	p.D194V	ELMO1_ENST00000442504.1_Missense_Mutation_p.D194V|ELMO1_ENST00000448602.1_Missense_Mutation_p.D194V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	194					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GATCGAGATGTCTATGGCTGA	0.502													False	0	False	7:37264604	0	A	37264604	T	A	37264604	3	1	88	1	0	0	0	0	1	0	0	0	5097	1667	58	5	1658	5	ELMO1	7	37264604	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	363318	37264604	121874059	8018	15730											
GPR141	353345	broad.mit.edu	37	chr7	37780137	37780137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtgaaaatgaacaccCggtcagtgaccaccatggcg	11	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37780137C>T	ENST00000447769.1	+	4	431	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	GPR141_ENST00000334425.1_Missense_Mutation_p.R48W|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	48						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R48R(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGAACACCCGGTCAGTGAC	0.488													False	0	True	7:37780137	0	T	37780137	C	T	37780137	3	4	88	1	0	0	0	0	1	0	0	0	6695	643	23	1	144	1	GPR141	7	37780137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	515533	37780137	121358526	8019	15731											
SFRP4	6424	broad.mit.edu	37	chr7	37955920	37955920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcacagaggaagaagcGcagcacggcgctgcagttca	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37955920G>A	ENST00000436072.2	-	1	597	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	74	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGGAAGAAGCGCAGCACGGCG	0.637													False	0	False	7:37955920	0	A	37955920	G	A	37955920	3	1	88	1	0	0	0	0	1	0	0	0	14244	1087	38	1	844	1	SFRP4	7	37955920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	175783	37955920	121182743	8020	15732											
EPDR1	54749	broad.mit.edu	37	chr7	37988649	37988649	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagaaagtcagctagatcCtgtaagggttcaaagaatct	10	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37988649C>A	ENST00000199448.4	+	2	856	c.477C>A	c.(475-477)tcC>tcA	p.S159S	EPDR1_ENST00000559325.1_Splice_Site_p.S279S|EPDR1_ENST00000425345.1_Splice_Site_p.S98S|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Splice_Site_p.S57S	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	159					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CAGCTAGATCCTGTAAGGGTT	0.463													False	0	False	7:37988649	0	A	37988649	C	A	37988649	5	1	88	1	0	0	0	0	0	0	1	0	5195	695	24	3	843	3	EPDR1	7	37988649	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32729	37988649	121150014	8021	15733											
STARD3NL	0	broad.mit.edu	37	chr7	38254645	38254645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagcttctggcagtttttcGatttaaagtgttaatacttg	8	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38254645G>A	ENST00000009041.7	+	4	577	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	STARD3NL_ENST00000396013.1_Missense_Mutation_p.R107Q|STARD3NL_ENST00000544203.1_Missense_Mutation_p.R100Q|STARD3NL_ENST00000434197.1_Missense_Mutation_p.R107Q	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	107	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						GCAGTTTTTCGATTTAAAGTG	0.403													False	0	False	7:38254645	0	A	38254645	G	A	38254645	3	1	88	1	0	0	0	0	1	0	0	0	15340	1058	37	1	330	1	STARD3NL	7	38254645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	265996	38254645	120884018	8022	15734											
AMPH	273	broad.mit.edu	37	chr7	38475924	38475924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgcaggtgtcacctcgGgcttgaaaggatcaaagtcc	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38475924G>A	ENST00000356264.2	-	12	1297	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	AMPH_ENST00000325590.5_Missense_Mutation_p.P361L|AMPH_ENST00000428293.2_Missense_Mutation_p.P361L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	361					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGTCACCTCGGGCTTGAAAGG	0.433													False	0	True	7:38475924	0	A	38475924	G	A	38475924	3	1	88	1	0	0	0	0	1	0	0	0	588	1232	43	2	1045	2	AMPH	7	38475924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221279	38475924	120662739	8023	15735											
AMPH	273	broad.mit.edu	37	chr7	38502604	38502604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgaggccgtgctggtgCgggagacgcaggtgctaatg	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38502604C>T	ENST00000356264.2	-	10	1074	c.859G>A	c.(859-861)Gca>Aca	p.A287T	AMPH_ENST00000325590.5_Missense_Mutation_p.A287T|AMPH_ENST00000428293.2_Missense_Mutation_p.A287T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	287					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.A287T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CGTGCTGGTGCGGGAGACGCA	0.547													False	0	True	7:38502604	0	T	38502604	C	T	38502604	3	4	88	1	0	0	0	0	1	0	0	0	588	768	27	1	1276	1	AMPH	7	38502604	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26680	38502604	120636059	8024	15736											
AMPH	273	broad.mit.edu	37	chr7	38543262	38543262	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacattacctttgattgctgCtaaatatcctcggagttctc	6	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38543262C>A	ENST00000356264.2	-	3	408	c.193G>T	c.(193-195)Gca>Tca	p.A65S	AMPH_ENST00000325590.5_Missense_Mutation_p.A65S|AMPH_ENST00000428293.2_Missense_Mutation_p.A65S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	65	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGATTGCTGCTAAATATCCT	0.378													False	0	False	7:38543262	0	A	38543262	C	A	38543262	3	1	88	1	0	0	0	0	1	0	0	0	588	797	28	3	1970	3	AMPH	7	38543262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40658	38543262	120595401	8025	15737											
CDK13	8621	broad.mit.edu	37	chr7	39991439	39991439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctctcgcagtccctacaGccctgtgctcaggtgagttc	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:39991439G>T	ENST00000181839.4	+	1	1804	c.1199G>T	c.(1198-1200)aGc>aTc	p.S400I	CDK13_ENST00000340829.5_Missense_Mutation_p.S400I	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	400					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGTCCCTACAGCCCTGTGCTC	0.662													False	0	True	7:39991439	0	T	39991439	G	T	39991439	3	4	88	1	0	0	0	0	1	0	0	0	3152	971	34	3	1201	3	CDK13	7	39991439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1448177	39991439	119147224	8026	15738											
C7orf10	79783	broad.mit.edu	37	chr7	40234621	40234621	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgggatatgaagatatagAcgagattgctcctcacatca	9	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:40234621A>C	ENST00000309930.5	+	6	491	c.467A>C	c.(466-468)gAc>gCc	p.D156A	C7orf10_ENST00000540834.1_Missense_Mutation_p.D149A|C7orf10_ENST00000401647.2_Missense_Mutation_p.D156A|C7orf10_ENST00000335693.4_Missense_Mutation_p.D156A	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	156							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GAAGATATAGACGAGATTGCT	0.433													False	0	False	7:40234621	0	C	40234621	A	C	40234621	3	2	88	1	0	0	0	0	1	0	0	0	2395	290	10	4		4	C7orf10	7	40234621	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	243182	40234621	118904042	8027	15739											
C7orf10	79783	broad.mit.edu	37	chr7	40498706	40498706	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttttttcttttagatcttgGatttgcctgagttgattgat	8	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:40498706G>T	ENST00000309930.5	+	11	940	c.916G>T	c.(916-918)Gat>Tat	p.D306Y	C7orf10_ENST00000401647.2_Missense_Mutation_p.D258Y|C7orf10_ENST00000335693.4_Missense_Mutation_p.D306Y	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	306							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTAGATCTTGGATTTGCCTGA	0.353													False	0	False	7:40498706	0	T	40498706	G	T	40498706	3	4	88	1	0	0	0	0	1	0	0	0	2395	1174	41	3	847	3	C7orf10	7	40498706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	264085	40498706	118639957	8028	15740											
GLI3	2737	broad.mit.edu	37	chr7	42005103	42005103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgttgcagaacccaaaggCgcgagtctgcggcacagcgg	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005103C>T	ENST00000395925.3	-	15	3652	c.3568G>A	c.(3568-3570)Gcc>Acc	p.A1190T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1190					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AACCCAAAGGCGCGAGTCTGC	0.657									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	False	7:42005103	0	T	42005103	C	T	42005103	3	4	88	1	0	0	0	0	1	0	0	0	6484	768	27	1	1178	1	GLI3	7	42005103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1506397	42005103	117133560	8029	15741											
GLI3	2737	broad.mit.edu	37	chr7	42005127	42005127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgcggcacagcgggccGcggcccacacttgagcttgg	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005127G>A	ENST00000395925.3	-	15	3628	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1182					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1182W(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACAGCGGGCCGCGGCCCACAC	0.667									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	False	7:42005127	0	A	42005127	G	A	42005127	3	1	88	1	0	0	0	0	1	0	0	0	6484	1086	38	1	1202	1	GLI3	7	42005127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	42005127	117133536	8030	15742											
GLI3	2737	broad.mit.edu	37	chr7	42005592	42005592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggggggttgcagctgctgaGgctgctgaagcgcggcacac	18	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005592G>T	ENST00000395925.3	-	15	3163	c.3079C>A	c.(3079-3081)Ctc>Atc	p.L1027I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1027					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGCTGCTGAGGCTGCTGAAG	0.716									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	False	7:42005592	0	T	42005592	G	T	42005592	3	4	88	1	0	0	0	0	1	0	0	0	6484	1000	35	3	1667	3	GLI3	7	42005592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	465	42005592	117133071	8031	15743											
C7orf25	79020	broad.mit.edu	37	chr7	42949409	42949409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttttagggtgtctcccGtcccaaaaattgttaatgag	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949409G>A	ENST00000350427.4	-	2	1366	c.1091C>T	c.(1090-1092)aCg>aTg	p.T364M	C7orf25_ENST00000447342.1_Missense_Mutation_p.T364M|C7orf25_ENST00000431882.2_Missense_Mutation_p.T422M|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.T364M			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	364										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GGTGTCTCCCGTCCCAAAAAT	0.433													False	0	True	7:42949409	0	A	42949409	G	A	42949409	3	1	88	1	0	0	0	0	1	0	0	0	2399	1145	40	1	178	1	C7orf25	7	42949409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	943817	42949409	116189254	8032	15744											
C7orf25	79020	broad.mit.edu	37	chr7	42949837	42949837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggtcaactctggtcacCtgcaaaagttcagggccctc	9	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949837C>T	ENST00000350427.4	-	2	938	c.663G>A	c.(661-663)caG>caA	p.Q221Q	C7orf25_ENST00000447342.1_Silent_p.Q221Q|C7orf25_ENST00000431882.2_Silent_p.Q279Q|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Silent_p.Q221Q			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	221										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTCTGGTCACCTGCAAAAGTT	0.433													False	0	False	7:42949837	0	T	42949837	C	T	42949837	2	4	88	1	0	0	0	0	0	0	0	1	2399	680	24	2		2	C7orf25	7	42949837	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428	42949837	116188826	8033	15745											
C7orf25	79020	broad.mit.edu	37	chr7	42949923	42949923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacagagcgttgactgctaCtatgtctcctctcacagata	7	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949923C>T	ENST00000350427.4	-	2	852	c.577G>A	c.(577-579)Gta>Ata	p.V193I	C7orf25_ENST00000447342.1_Missense_Mutation_p.V193I|C7orf25_ENST00000431882.2_Missense_Mutation_p.V251I|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.V193I			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	193										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TTGACTGCTACTATGTCTCCT	0.468													False	0	False	7:42949923	0	T	42949923	C	T	42949923	3	4	88	1	0	0	0	0	1	0	0	0	2399	565	20	2	692	2	C7orf25	7	42949923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	42949923	116188740	8034	15746											
C7orf25	79020	broad.mit.edu	37	chr7	42950303	42950303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtgtgttaggttagtgCtctgtaaatgagactcttta	11	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42950303C>T	ENST00000350427.4	-	2	472	c.197G>A	c.(196-198)aGc>aAc	p.S66N	C7orf25_ENST00000447342.1_Missense_Mutation_p.S66N|C7orf25_ENST00000431882.2_Missense_Mutation_p.S124N|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.S66N			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	66								p.S66N(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TAGGTTAGTGCTCTGTAAATG	0.403													False	0	False	7:42950303	0	T	42950303	C	T	42950303	3	4	88	1	0	0	0	0	1	0	0	0	2399	797	28	2	1072	2	C7orf25	7	42950303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	380	42950303	116188360	8035	15747											
PSMA2	5683	broad.mit.edu	37	chr7	42957219	42957219	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taacttcagttggagtaagcCtcctaaatccagcttcattg	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42957219C>A	ENST00000442788.1	-	8	674	c.659G>T	c.(658-660)aGg>aTg	p.R220M	PSMA2_ENST00000445517.1_Missense_Mutation_p.R150M|PSMA2_ENST00000223321.4_Missense_Mutation_p.R220M			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						TGGAGTAAGCCTCCTAAATCC	0.378													False	0	False	7:42957219	0	A	42957219	C	A	42957219	3	1	88	1	0	0	0	0	1	0	0	0	12743	681	24	3	49	3	PSMA2	7	42957219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6916	42957219	116181444	8036	15748											
HECW1	23072	broad.mit.edu	37	chr7	43483972	43483972	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcagctgggtgagggcagtGtccccgatggtccagggaac	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43483972G>C	ENST00000395891.2	+	11	1806	c.1201G>C	c.(1201-1203)Gtc>Ctc	p.V401L	HECW1_ENST00000453890.1_Missense_Mutation_p.V401L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGAGGGCAGTGTCCCCGATGG	0.602													False	0	False	7:43483972	0	C	43483972	G	C	43483972	3	2	88	1	0	0	0	0	1	0	0	0	7089	1377	48	5	1235	5	HECW1	7	43483972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	526753	43483972	115654691	8037	15749											
HECW1	23072	broad.mit.edu	37	chr7	43484384	43484384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcaggccctgctccttgcCtgtgtccgagctggagacgg	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484384C>A	ENST00000395891.2	+	11	2218	c.1613C>A	c.(1612-1614)cCt>cAt	p.P538H	HECW1_ENST00000453890.1_Missense_Mutation_p.P538H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGCTCCTTGCCTGTGTCCGAG	0.657													False	0	False	7:43484384	0	A	43484384	C	A	43484384	3	1	88	1	0	0	0	0	1	0	0	0	7089	681	24	3	1647	3	HECW1	7	43484384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	412	43484384	115654279	8038	15750											
HECW1	23072	broad.mit.edu	37	chr7	43484460	43484460	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggacacactacatccgcatCcacaccctgctgcacagcat	6	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484460C>T	ENST00000395891.2	+	11	2294	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	HECW1_ENST00000453890.1_Silent_p.I563I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACATCCGCATCCACACCCTGC	0.682													False	0	False	7:43484460	0	T	43484460	C	T	43484460	2	4	88	1	0	0	0	0	0	0	0	1	7089	845	30	2		2	HECW1	7	43484460	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76	43484460	115654203	8039	15751											
HECW1	23072	broad.mit.edu	37	chr7	43484963	43484963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaagatctccgagagcaCggtcttctcctcgcaagacg	10	15	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484963C>T	ENST00000395891.2	+	11	2797	c.2192C>T	c.(2191-2193)aCg>aTg	p.T731M	HECW1_ENST00000453890.1_Missense_Mutation_p.T731M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCCGAGAGCACGGTCTTCTCC	0.632													False	0	False	7:43484963	0	T	43484963	C	T	43484963	3	4	88	1	0	0	0	0	1	0	0	0	7089	536	19	1	2226	1	HECW1	7	43484963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	503	43484963	115653700	8040	15752											
HECW1	23072	broad.mit.edu	37	chr7	43490509	43490509	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcatcactacccaacaatCgatgagcctcttccaccaag	4	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43490509C>T	ENST00000395891.2	+	12	3086	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	HECW1_ENST00000453890.1_Intron	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCCAACAATCGATGAGCCTC	0.418													False	0	False	7:43490509	0	T	43490509	C	T	43490509	2	4	88	1	0	0	0	0	0	0	0	1	7089	874	31	1		1	HECW1	7	43490509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5546	43490509	115648154	8041	15753											
HECW1	23072	broad.mit.edu	37	chr7	43590119	43590119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagaaggagtacatcgagCgcatggtgaagtggcgggtg	17	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43590119C>T	ENST00000395891.2	+	27	4929	c.4324C>T	c.(4324-4326)Cgc>Tgc	p.R1442C	HECW1_ENST00000453890.1_Missense_Mutation_p.R1408C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTACATCGAGCGCATGGTGAA	0.587													False	0	False	7:43590119	0	T	43590119	C	T	43590119	3	4	88	1	0	0	0	0	1	0	0	0	7089	768	27	1	4422	1	HECW1	7	43590119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99610	43590119	115548544	8042	15754											
BLVRA	644	broad.mit.edu	37	chr7	43843295	43843295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccgttggaagaagagCggtttggcttccctgcattc	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43843295C>T	ENST00000402924.1	+	8	644	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	BLVRA_ENST00000265523.4_Missense_Mutation_p.R161W	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	161					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GGAAGAAGAGCGGTTTGGCTT	0.577													False	0	False	7:43843295	0	T	43843295	C	T	43843295	3	4	88	1	0	0	0	0	1	0	0	0	1456	759	27	1	503	1	BLVRA	7	43843295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253176	43843295	115295368	8043	15755											
BLVRA	644	broad.mit.edu	37	chr7	43846790	43846790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgcatcctgcactgcctgGggcttgcagaagaaatccag	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43846790G>A	ENST00000402924.1	+	9	1010	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	BLVRA_ENST00000265523.4_Missense_Mutation_p.G283R	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	283					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GCACTGCCTGGGGCTTGCAGA	0.443													False	0	True	7:43846790	0	A	43846790	G	A	43846790	3	1	88	1	0	0	0	0	1	0	0	0	1456	1232	43	2	873	2	BLVRA	7	43846790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3495	43846790	115291873	8044	15756											
URGCP	55665	broad.mit.edu	37	chr7	43917061	43917061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggacgggcatgctcagCgtgctcccatcgattagctc	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43917061C>T	ENST00000336086.6	-	4	4108	c.1872G>A	c.(1870-1872)acG>acA	p.T624T	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Silent_p.T658T|URGCP_ENST00000443736.1_Silent_p.T624T|URGCP_ENST00000223341.7_Silent_p.T624T|URGCP_ENST00000447717.3_Silent_p.T624T|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000453200.1_Silent_p.T667T			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	667					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCATGCTCAGCGTGCTCCCAT	0.657													False	0	False	7:43917061	0	T	43917061	C	T	43917061	2	4	88	1	0	0	0	0	0	0	0	1	17110	755	27	1		1	URGCP	7	43917061	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70271	43917061	115221602	8045	15757											
POLM	27434	broad.mit.edu	37	chr7	44118348	44118348	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccctgcgcaccttcatggtCtggtacctctctgagcgccg	11	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44118348C>A	ENST00000242248.5	-	5	806	c.705G>T	c.(703-705)caG>caT	p.Q235H	POLM_ENST00000335195.6_Missense_Mutation_p.Q235H|POLM_ENST00000395831.3_Intron	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	235					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCTTCATGGTCTGGTACCTCT	0.607								DNA polymerases (catalytic subunits)					False	0	False	7:44118348	0	A	44118348	C	A	44118348	3	1	88	1	0	0	0	0	1	0	0	0	12275	912	32	3	807	3	POLM	7	44118348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201287	44118348	115020315	8046	15758											
AEBP1	165	broad.mit.edu	37	chr7	44144435	44144435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacgacgtggaggccccGccgcctcccgagcccacccc	13	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44144435G>A	ENST00000223357.3	+	1	476	c.171G>A	c.(169-171)ccG>ccA	p.P57P		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	57	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGGAGGCCCCGCCGCCTCCCG	0.711													False	0	True	7:44144435	0	A	44144435	G	A	44144435	2	1	88	1	0	0	0	0	0	0	0	1	349	1074	38	1		1	AEBP1	7	44144435	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26087	44144435	114994228	8047	15759											
AEBP1	165	broad.mit.edu	37	chr7	44148560	44148560	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgagcgccagacagacgaaGagaaggaggagctgagtgag	17	7	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44148560G>T	ENST00000223357.3	+	7	1308	c.1003G>T	c.(1003-1005)Gag>Tag	p.E335*		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	335					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GACAGACGAAGAGAAGGAGGA	0.627													False	0	False	7:44148560	0	T	44148560	G	T	44148560	4	4	88	1	0	0	0	0	0	1	0	0	349	943	33	3	1029	3	AEBP1	7	44148560	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4125	44148560	114990103	8048	15760											
AEBP1	165	broad.mit.edu	37	chr7	44153429	44153429	+	Nonsense_Mutation	SNP	C	C	T													gccctatgaccccccaacagCgacgcctgcagcagcgacgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153429C>T	ENST00000223357.3	+	21	3351	c.3046C>T	c.(3046-3048)Cga>Tga	p.R1016*	AEBP1_ENST00000450684.2_Nonsense_Mutation_p.R591*	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1016	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCCCAACAGCGACGCCTGCA	0.662													False	0	False	7:44153429	0	T	44153429	C	T	44153429	4	4	88	1	0	0	0	0	0	1	0	0	349	760	27	1	3128	1	AEBP1	7	44153429	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4869	44153429	114985234	8049	15761	195	2									
AEBP1	165	broad.mit.edu	37	chr7	44153432	44153432	+	Missense_Mutation	SNP	C	C	T													ctatgaccccccaacagcgaCgcctgcagcagcgacgccta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153432C>T	ENST00000223357.3	+	21	3354	c.3049C>T	c.(3049-3051)Cgc>Tgc	p.R1017C	AEBP1_ENST00000450684.2_Missense_Mutation_p.R592C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1017	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCAACAGCGACGCCTGCAGCA	0.662													False	0	False	7:44153432	0	T	44153432	C	T	44153432	3	4	88	1	0	0	0	0	1	0	0	0	349	536	19	1	3131	1	AEBP1	7	44153432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	44153432	114985231	8050	15762	195	2									
AEBP1	165	broad.mit.edu	37	chr7	44153526	44153526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaccctaggcccccacaCtgtgcctcccacgctgcccc	6	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153526C>T	ENST00000223357.3	+	21	3448	c.3143C>T	c.(3142-3144)aCt>aTt	p.T1048I	AEBP1_ENST00000450684.2_Missense_Mutation_p.T623I	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1048	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGCCCCCACACTGTGCCTCCC	0.701													False	0	False	7:44153526	0	T	44153526	C	T	44153526	3	4	88	1	0	0	0	0	1	0	0	0	349	565	20	2	3225	2	AEBP1	7	44153526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94	44153526	114985137	8051	15763											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	88	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-IB-7651-01A-11D-2154-08	252	44153778	114984885	8052	15764											
POLD2	5425	broad.mit.edu	37	chr7	44154541	44154541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcactgtctggtcctcaGgacctgcaaagaagtcacat	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44154541G>T	ENST00000406581.2	-	12	1902	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	POLD2_ENST00000223361.3_Missense_Mutation_p.P404H|POLD2_ENST00000452185.1_Missense_Mutation_p.P418H	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	418					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CTGGTCCTCAGGACCTGCAAA	0.562													False	0	False	7:44154541	0	T	44154541	G	T	44154541	3	4	88	1	0	0	0	0	1	0	0	0	12260	1000	35	3	160	3	POLD2	7	44154541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	763	44154541	114984122	8053	15765											
GCK	2645	broad.mit.edu	37	chr7	44187283	44187283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcagagctctcgtccaCcaggcggtcatactccagca	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44187283C>T	ENST00000403799.3	-	7	1298	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	GCK_ENST00000437084.1_Missense_Mutation_p.V260M|GCK_ENST00000395796.3_Missense_Mutation_p.V276M|GCK_ENST00000345378.2_Missense_Mutation_p.V278M	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	277					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CTCTCGTCCACCAGGCGGTCA	0.682													False	0	False	7:44187283	0	T	44187283	C	T	44187283	3	4	88	1	0	0	0	0	1	0	0	0	6336	507	18	2	584	2	GCK	7	44187283	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32742	44187283	114951380	8054	15766											
NUDCD3	23386	broad.mit.edu	37	chr7	44425626	44425626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattaaaactgcacagccCccggggagatgttgaacatg	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44425626C>T	ENST00000355451.7	-	6	1349	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3											endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CTGCACAGCCCCCGGGGAGAT	0.572													False	0	True	7:44425626	0	T	44425626	C	T	44425626	3	4	88	1	0	0	0	0	1	0	0	0	10792	623	22	2	19	2	NUDCD3	7	44425626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238343	44425626	114713037	8055	15767											
NUDCD3	23386	broad.mit.edu	37	chr7	44467174	44467174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaaggccattacctgcTttcccttcaccacgtgcttg	7	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44467174T>G	ENST00000355451.7	-	3	917	c.638A>C	c.(637-639)aAg>aCg	p.K213T	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3		CS.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CATTACCTGCTTTCCCTTCAC	0.567													False	0	True	7:44467174	0	G	44467174	T	G	44467174	3	3	88	1	0	0	0	0	1	0	0	0	10792	1609	56	4	463	4	NUDCD3	7	44467174	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41548	44467174	114671489	8056	15768											
NPC1L1	29881	broad.mit.edu	37	chr7	44561319	44561319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccccacactcactgacggtcGaggggcagaacttgtcctta	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44561319G>A	ENST00000289547.4	-	12	3000	c.2945C>T	c.(2944-2946)tCg>tTg	p.S982L	NPC1L1_ENST00000546276.1_Missense_Mutation_p.S936L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.S982L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	982					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.S982L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACTGACGGTCGAGGGGCAGAA	0.587													False	0	False	7:44561319	0	A	44561319	G	A	44561319	3	1	88	1	0	0	0	0	1	0	0	0	10639	1059	37	1	1170	1	NPC1L1	7	44561319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94145	44561319	114577344	8057	15769											
NPC1L1	29881	broad.mit.edu	37	chr7	44561836	44561836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaatagtcaagcaggtaCgagtcctaggagtggaggag	16	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44561836C>T	ENST00000289547.4	-	11	2698	c.2643G>A	c.(2641-2643)tcG>tcA	p.S881S	NPC1L1_ENST00000546276.1_Intron|NPC1L1_ENST00000381160.3_Silent_p.S881S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	881					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAAGCAGGTACGAGTCCTAGG	0.542													False	0	False	7:44561836	0	T	44561836	C	T	44561836	2	4	88	1	0	0	0	0	0	0	0	1	10639	523	19	1		1	NPC1L1	7	44561836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	517	44561836	114576827	8058	15770											
NPC1L1	29881	broad.mit.edu	37	chr7	44578520	44578520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggttgttctggaaataCtgcaggaggctgttgatgca	15	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44578520C>A	ENST00000289547.4	-	2	1531	c.1476G>T	c.(1474-1476)caG>caT	p.Q492H	NPC1L1_ENST00000423141.1_Missense_Mutation_p.Q492H|NPC1L1_ENST00000381160.3_Missense_Mutation_p.Q492H|NPC1L1_ENST00000546276.1_Missense_Mutation_p.Q492H	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	492					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCTGGAAATACTGCAGGAGGC	0.562													False	0	False	7:44578520	0	A	44578520	C	A	44578520	3	1	88	1	0	0	0	0	1	0	0	0	10639	564	20	3	2679	3	NPC1L1	7	44578520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16684	44578520	114560143	8059	15771											
NPC1L1	29881	broad.mit.edu	37	chr7	44579675	44579675	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcgggtgaggagggcCttggtgatcgacagactcgc	19	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44579675C>A	ENST00000289547.4	-	2	376	c.321G>T	c.(319-321)aaG>aaT	p.K107N	NPC1L1_ENST00000423141.1_Missense_Mutation_p.K107N|NPC1L1_ENST00000381160.3_Missense_Mutation_p.K107N|NPC1L1_ENST00000546276.1_Missense_Mutation_p.K107N	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	107					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGAGGAGGGCCTTGGTGATCG	0.592													False	0	False	7:44579675	0	A	44579675	C	A	44579675	3	1	88	1	0	0	0	0	1	0	0	0	10639	680	24	3	3834	3	NPC1L1	7	44579675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1155	44579675	114558988	8060	15772											
NPC1L1	29881	broad.mit.edu	37	chr7	44579904	44579904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcatagaaggcgcagtagCcaggctggtggatggttgtg	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44579904C>T	ENST00000289547.4	-	2	147	c.92G>A	c.(91-93)gGc>gAc	p.G31D	NPC1L1_ENST00000423141.1_Missense_Mutation_p.G31D|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G31D|NPC1L1_ENST00000546276.1_Missense_Mutation_p.G31D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	31					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGCGCAGTAGCCAGGCTGGTG	0.612													False	0	False	7:44579904	0	T	44579904	C	T	44579904	3	4	88	1	0	0	0	0	1	0	0	0	10639	739	26	2	4063	2	NPC1L1	7	44579904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229	44579904	114558759	8061	15773											
DDX56	54606	broad.mit.edu	37	chr7	44611245	44611245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcagggcatacagcaggaGgaatttgtcttcctcagtct	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44611245G>T	ENST00000258772.5	-	6	842	c.736C>A	c.(736-738)Ctc>Atc	p.L246I	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.L246I	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	246	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TACAGCAGGAGGAATTTGTCT	0.527													False	0	False	7:44611245	0	T	44611245	G	T	44611245	3	4	88	1	0	0	0	0	1	0	0	0	4399	1000	35	3	943	3	DDX56	7	44611245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31341	44611245	114527418	8062	15774											
DDX56	54606	broad.mit.edu	37	chr7	44612246	44612246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgtccaccaccaaaagctCcagggagtcacgaagtttca	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44612246C>T	ENST00000258772.5	-	4	587	c.481G>A	c.(481-483)Gag>Aag	p.E161K	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.E161K	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	161	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						ACCAAAAGCTCCAGGGAGTCA	0.507													False	0	False	7:44612246	0	T	44612246	C	T	44612246	3	4	88	1	0	0	0	0	1	0	0	0	4399	864	30	2	1206	2	DDX56	7	44612246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1001	44612246	114526417	8063	15775											
TMED4	222068	broad.mit.edu	37	chr7	44621144	44621144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgaacgtgaagcggccCtccgagccgtactgccggga	16	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44621144C>T	ENST00000457408.2	-	3	343	c.291G>A	c.(289-291)gaG>gaA	p.E97E	TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000289577.5_Silent_p.E97E|TMED4_ENST00000481238.1_Silent_p.E97E	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	97	GOLD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TGAAGCGGCCCTCCGAGCCGT	0.567													False	0	True	7:44621144	0	T	44621144	C	T	44621144	2	4	88	1	0	0	0	0	0	0	0	1	16088	680	24	2		2	TMED4	7	44621144	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8898	44621144	114517519	8064	15776											
OGDH	4967	broad.mit.edu	37	chr7	44685096	44685096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaccacctggcagtgcaGtcgctcatcagggcatatca	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44685096G>A	ENST00000222673.5	+	3	435	c.393G>A	c.(391-393)caG>caA	p.Q131Q	OGDH_ENST00000447398.1_Silent_p.Q131Q|OGDH_ENST00000449767.1_Silent_p.Q131Q|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Silent_p.Q71Q|OGDH_ENST00000443864.2_Silent_p.Q131Q|OGDH_ENST00000444676.1_Silent_p.Q131Q	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	131					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TGGCAGTGCAGTCGCTCATCA	0.607													False	0	True	7:44685096	0	A	44685096	G	A	44685096	2	1	88	1	0	0	0	0	0	0	0	1	10907	1020	36	2		2	OGDH	7	44685096	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63952	44685096	114453567	8065	15777											
OGDH	4967	broad.mit.edu	37	chr7	44687259	44687259	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttggccactcatagataCgagggcaccatgtagcacag	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44687259C>T	ENST00000222673.5	+	4	460	c.418C>T	c.(418-420)Cga>Tga	p.R140*	OGDH_ENST00000447398.1_Intron|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000443864.2_Nonsense_Mutation_p.R140*|OGDH_ENST00000444676.1_Nonsense_Mutation_p.R140*	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	140					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTCATAGATACGAGGGCACCA	0.458													False	0	False	7:44687259	0	T	44687259	C	T	44687259	4	4	88	1	0	0	0	0	0	1	0	0	10907	528	19	1	523	1	OGDH	7	44687259	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2163	44687259	114451404	8066	15778											
OGDH	4967	broad.mit.edu	37	chr7	44747483	44747483	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctccatctctcaggtatgCcggccgggacccagcggctg	12	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44747483C>A	ENST00000222673.5	+	23	2999	c.2957C>A	c.(2956-2958)gCc>gAc	p.A986D	OGDH_ENST00000449767.1_Missense_Mutation_p.A982D|OGDH_ENST00000439616.2_Missense_Mutation_p.A836D|OGDH_ENST00000543843.1_Missense_Mutation_p.A937D|OGDH_ENST00000447398.1_Missense_Mutation_p.A997D|OGDH_ENST00000444676.1_Missense_Mutation_p.A1001D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	986					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTCAGGTATGCCGGCCGGGAC	0.662													False	0	True	7:44747483	0	A	44747483	C	A	44747483	3	1	88	1	0	0	0	0	1	0	0	0	10907	739	26	3	3216	3	OGDH	7	44747483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60224	44747483	114391180	8067	15779											
OGDH	4967	broad.mit.edu	37	chr7	44747498	44747498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgccggccgggacccagCggctgctccagccaccggca	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44747498C>T	ENST00000222673.5	+	23	3014	c.2972C>T	c.(2971-2973)gCg>gTg	p.A991V	OGDH_ENST00000449767.1_Missense_Mutation_p.A987V|OGDH_ENST00000439616.2_Missense_Mutation_p.A841V|OGDH_ENST00000543843.1_Missense_Mutation_p.A942V|OGDH_ENST00000447398.1_Missense_Mutation_p.A1002V|OGDH_ENST00000444676.1_Missense_Mutation_p.A1006V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	991					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CGGGACCCAGCGGCTGCTCCA	0.652													False	0	False	7:44747498	0	T	44747498	C	T	44747498	3	4	88	1	0	0	0	0	1	0	0	0	10907	768	27	1	3231	1	OGDH	7	44747498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	44747498	114391165	8068	15780											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805040	44805040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggatgggccagcactgaagCgctgccgcaccgtgagcccc	14	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44805040C>T	ENST00000309315.4	+	16	2227	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R676C|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R670C|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R644C|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R702C	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	702					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCACTGAAGCGCTGCCGCAC	0.677													False	0	False	7:44805040	0	T	44805040	C	T	44805040	3	4	88	1	0	0	0	0	1	0	0	0	17780	768	27	1	2162	1	ZMIZ2	7	44805040	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57542	44805040	114333623	8069	15781											
ZMIZ2	83637	broad.mit.edu	37	chr7	44807123	44807123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtcctcagctgctcccGgaactgaccaaccctgatga	8	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44807123G>A	ENST00000309315.4	+	19	2787	c.2664G>A	c.(2662-2664)ccG>ccA	p.P888P	ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000265346.7_Silent_p.P862P|ZMIZ2_ENST00000433667.1_Silent_p.P856P|ZMIZ2_ENST00000413916.1_Silent_p.P830P|ZMIZ2_ENST00000441627.1_Silent_p.P888P	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	888	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCTGCTCCCGGAACTGACCA	0.542													False	0	True	7:44807123	0	A	44807123	G	A	44807123	2	1	88	1	0	0	0	0	0	0	0	1	17780	1103	39	1		1	ZMIZ2	7	44807123	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2083	44807123	114331540	8070	15782											
MYO1G	64005	broad.mit.edu	37	chr7	45009400	45009400	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagagctgcaggcctcGtccagcacggccaggatgcc	13	16	0	1	rs141395808		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45009400G>A	ENST00000258787.7	-	11	1543	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	469	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGCAGGCCTCGTCCAGCACGG	0.612													False	0	False	7:45009400	0	A	45009400	G	A	45009400	2	1	88	1	0	0	0	0	0	0	0	1	10141	1136	40	1		1	MYO1G	7	45009400	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202277	45009400	114129263	8071	15783											
MYO1G	64005	broad.mit.edu	37	chr7	45010479	45010479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcctcagctgcagtgtgGcccttctctatgagttccct	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45010479G>A	ENST00000258787.7	-	8	1162	c.1026C>T	c.(1024-1026)ggC>ggT	p.G342G		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	342	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGCAGTGTGGCCCTTCTCTA	0.662													False	0	True	7:45010479	0	A	45010479	G	A	45010479	2	1	88	1	0	0	0	0	0	0	0	1	10141	1190	42	2		2	MYO1G	7	45010479	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1079	45010479	114128184	8072	15784											
MYO1G	64005	broad.mit.edu	37	chr7	45010534	45010534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcgagccagcagggagCggagcacgaggtcccggggt	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45010534C>T	ENST00000258787.7	-	8	1107	c.971G>A	c.(970-972)cGc>cAc	p.R324H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	324	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGCAGGGAGCGGAGCACGAG	0.672													False	0	True	7:45010534	0	T	45010534	C	T	45010534	3	4	88	1	0	0	0	0	1	0	0	0	10141	768	27	1	2145	1	MYO1G	7	45010534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	45010534	114128129	8073	15785											
CCM2	83605	broad.mit.edu	37	chr7	45104190	45104190	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggtgcccatccatgacatCgccgccgtctcctatgttcg	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45104190C>T	ENST00000381112.3	+	4	1159	c.480C>T	c.(478-480)atC>atT	p.I160I	CCM2_ENST00000541586.1_Silent_p.I81I|CCM2_ENST00000258781.6_Silent_p.I139I|CCM2_ENST00000475551.1_Silent_p.I133I|CCM2_ENST00000544363.1_Silent_p.I139I|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Silent_p.I133I	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	139	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCCATGACATCGCCGCCGTCT	0.597													False	0	False	7:45104190	0	T	45104190	C	T	45104190	2	4	88	1	0	0	0	0	0	0	0	1	2931	874	31	1		1	CCM2	7	45104190	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93656	45104190	114034473	8074	15786											
CCM2	83605	broad.mit.edu	37	chr7	45109511	45109511	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcgactttctggacagagcGatatttgatggggcctctac	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45109511G>A	ENST00000381112.3	+	6	1438	c.759G>A	c.(757-759)gcG>gcA	p.A253A	CCM2_ENST00000541586.1_Silent_p.A174A|CCM2_ENST00000258781.6_Silent_p.A232A|CCM2_ENST00000475551.1_Silent_p.A226A|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Intron	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	232					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGGACAGAGCGATATTTGATG	0.607													False	0	False	7:45109511	0	A	45109511	G	A	45109511	2	1	88	1	0	0	0	0	0	0	0	1	2931	1045	37	1		1	CCM2	7	45109511	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5321	45109511	114029152	8075	15787											
CCM2	83605	broad.mit.edu	37	chr7	45113169	45113169	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaggactacatgctgaCggtaggcctccgctgcaggg	15	12	0	1	rs11552375		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45113169C>T	ENST00000381112.3	+	8	1656	c.977C>T	c.(976-978)aCg>aTg	p.T326M	CCM2_ENST00000541586.1_Splice_Site_p.T247M|CCM2_ENST00000258781.6_Splice_Site_p.T305M|CCM2_ENST00000475551.1_Splice_Site_p.T299M|CCM2_ENST00000544363.1_Splice_Site_p.T214M|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Splice_Site_p.T208M	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	305					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TACATGCTGACGGTAGGCCTC	0.657													False	0	False	7:45113169	0	T	45113169	C	T	45113169	5	4	88	1	0	0	0	0	0	0	1	0	2931	550	19	1	1041	1	CCM2	7	45113169	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3658	45113169	114025494	8076	15788											
TBRG4	9238	broad.mit.edu	37	chr7	45144233	45144233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcaagggcacggaccGccggctctgagctgccagca	14	16	1	1	rs143689271		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45144233G>A	ENST00000258770.3	-	4	932	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	TBRG4_ENST00000494076.1_Missense_Mutation_p.R271W|TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000361278.3_Intron	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	271					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GGCACGGACCGCCGGCTCTGA	0.612													False	0	False	7:45144233	0	A	45144233	G	A	45144233	3	1	88	1	0	0	0	0	1	0	0	0	15731	1086	38	1	1116	1	TBRG4	7	45144233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31064	45144233	113994430	8077	15789											
TBRG4	9238	broad.mit.edu	37	chr7	45145255	45145255	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgagcttccgcatgcgccAgcggacctcctgctccaccg	10	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45145255A>G	ENST00000258770.3	-	3	641	c.520T>C	c.(520-522)Tgg>Cgg	p.W174R	TBRG4_ENST00000494076.1_Missense_Mutation_p.W174R|TBRG4_ENST00000395655.4_Missense_Mutation_p.W174R|TBRG4_ENST00000361278.3_Missense_Mutation_p.W174R	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	174					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CGCATGCGCCAGCGGACCTCC	0.632													False	0	False	7:45145255	0	G	45145255	A	G	45145255	3	3	88	1	0	0	0	0	1	0	0	0	15731	188	7	4	1411	4	TBRG4	7	45145255	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1022	45145255	113993408	8078	15790											
TBRG4	9238	broad.mit.edu	37	chr7	45148815	45148815	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggaggcacgtgcatcGctttaccaggtgagctgcca	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45148815G>A	ENST00000258770.3	-	2	143	c.22C>T	c.(22-24)Cga>Tga	p.R8*	TBRG4_ENST00000494076.1_Nonsense_Mutation_p.R8*|TBRG4_ENST00000395655.4_Nonsense_Mutation_p.R8*|TBRG4_ENST00000361278.3_Nonsense_Mutation_p.R8*|TBRG4_ENST00000471142.1_5'UTR	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	8					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CACGTGCATCGCTTTACCAGG	0.557													False	0	False	7:45148815	0	A	45148815	G	A	45148815	4	1	88	1	0	0	0	0	0	1	0	0	15731	1095	38	1	1913	1	TBRG4	7	45148815	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3560	45148815	113989848	8079	15791											
ADCY1	107	broad.mit.edu	37	chr7	45614617	45614617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctggggggccagcgaccGccgaacaaggggtttggcag	18	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45614617G>A	ENST00000297323.7	+	1	497	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	159					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	gccAGCGACCGCCGAACAAGG	0.697													False	0	False	7:45614617	0	A	45614617	G	A	45614617	3	1	88	1	0	0	0	0	1	0	0	0	292	1087	38	1	477	1	ADCY1	7	45614617	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	465802	45614617	113524046	8080	15792											
ADCY1	107	broad.mit.edu	37	chr7	45701749	45701749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgcagctcatgcactGccggaaaatgttcaaggccg	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45701749G>A	ENST00000297323.7	+	8	1563	c.1541G>A	c.(1540-1542)tGc>tAc	p.C514Y	ADCY1_ENST00000432715.1_Missense_Mutation_p.C289Y	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	514	Interaction with calmodulin (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CTCATGCACTGCCGGAAAATG	0.522													False	0	False	7:45701749	0	A	45701749	G	A	45701749	3	1	88	1	0	0	0	0	1	0	0	0	292	1319	46	2	1571	2	ADCY1	7	45701749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87132	45701749	113436914	8081	15793											
ADCY1	107	broad.mit.edu	37	chr7	45753338	45753338	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggtgcccctaccactTtgtgtgccgaggcaaagtca	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45753338T>G	ENST00000297323.7	+	20	3126	c.3104T>G	c.(3103-3105)tTt>tGt	p.F1035C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1035	Interaction with calmodulin (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CCCTACCACTTTGTGTGCCGA	0.537													False	0	True	7:45753338	0	G	45753338	T	G	45753338	3	3	88	1	0	0	0	0	1	0	0	0	292	1841	64	4	3182	4	ADCY1	7	45753338	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	51589	45753338	113385325	8082	15794											
TNS3	64759	broad.mit.edu	37	chr7	47317697	47317697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccttctttggggaaccaaTcatgacctttgatacgaagt	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47317697T>C	ENST00000398879.1	-	31	4681	c.4315A>G	c.(4315-4317)Att>Gtt	p.I1439V	TNS3_ENST00000311160.9_Missense_Mutation_p.I1439V|TNS3_ENST00000355730.3_Missense_Mutation_p.I1199V			Q68CZ2	TENS3_HUMAN	tensin 3	1439						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGGAACCAATCATGACCTTT	0.592													False	0	False	7:47317697	0	C	47317697	T	C	47317697	3	2	88	1	0	0	0	0	1	0	0	0	16426	1435	50	4	26	4	TNS3	7	47317697	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1564359	47317697	111820966	8083	15795											
TNS3	64759	broad.mit.edu	37	chr7	47333423	47333423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgagttcattggccaaatctCcagctgtggcaagaaattta	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47333423C>T	ENST00000398879.1	-	25	4046	c.3680G>A	c.(3679-3681)gGa>gAa	p.G1227E	TNS3_ENST00000311160.9_Missense_Mutation_p.G1227E|TNS3_ENST00000355730.3_Missense_Mutation_p.G987E			Q68CZ2	TENS3_HUMAN	tensin 3	1227	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGCCAAATCTCCAGCTGTGGC	0.433													False	0	False	7:47333423	0	T	47333423	C	T	47333423	3	4	88	1	0	0	0	0	1	0	0	0	16426	855	30	2	685	2	TNS3	7	47333423	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15726	47333423	111805240	8084	15796											
TNS3	64759	broad.mit.edu	37	chr7	47342835	47342835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtcggcagcccctgtcGctgtcagcgggatgctgggg	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47342835G>A	ENST00000398879.1	-	22	3536	c.3170C>T	c.(3169-3171)gCg>gTg	p.A1057V	TNS3_ENST00000311160.9_Missense_Mutation_p.A1057V|TNS3_ENST00000355730.3_Missense_Mutation_p.A817V			Q68CZ2	TENS3_HUMAN	tensin 3	1057						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGCCCCTGTCGCTGTCAGCGG	0.667													False	0	False	7:47342835	0	A	47342835	G	A	47342835	3	1	88	1	0	0	0	0	1	0	0	0	16426	1087	38	1	1207	1	TNS3	7	47342835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9412	47342835	111795828	8085	15797											
TNS3	64759	broad.mit.edu	37	chr7	47384365	47384365	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttaccacgtcctccttTgtgctgactggctgggctgc	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47384365T>G	ENST00000398879.1	-	20	3004	c.2638A>C	c.(2638-2640)Aaa>Caa	p.K880Q	TNS3_ENST00000311160.9_Missense_Mutation_p.K880Q|TNS3_ENST00000355730.3_Missense_Mutation_p.K640Q			Q68CZ2	TENS3_HUMAN	tensin 3	880						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGTCCTCCTTTGTGCTGACTG	0.602													False	0	True	7:47384365	0	G	47384365	T	G	47384365	3	3	88	1	0	0	0	0	1	0	0	0	16426	1821	63	4	1747	4	TNS3	7	47384365	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41530	47384365	111754298	8086	15798											
TNS3	64759	broad.mit.edu	37	chr7	47407968	47407968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacccagctcaccttgccGcccggtggccctgctggggc	14	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47407968G>A	ENST00000398879.1	-	17	2641	c.2275C>T	c.(2275-2277)Cgg>Tgg	p.R759W	TNS3_ENST00000311160.9_Missense_Mutation_p.R759W|TNS3_ENST00000355730.3_Missense_Mutation_p.R519W			Q68CZ2	TENS3_HUMAN	tensin 3	759						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TCACCTTGCCGCCCGGTGGCC	0.637													False	0	True	7:47407968	0	A	47407968	G	A	47407968	3	1	88	1	0	0	0	0	1	0	0	0	16426	1086	38	1	2122	1	TNS3	7	47407968	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23603	47407968	111730695	8087	15799											
C7orf69	80099	broad.mit.edu	37	chr7	47859172	47859172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagttggtcatggatggaAataactgctggtttcacaaa	10	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47859172A>G	ENST00000418326.2	+	4	402	c.289A>G	c.(289-291)Aat>Gat	p.N97D	C7orf69_ENST00000258776.4_Missense_Mutation_p.N116D|PKD1L1_ENST00000289672.2_Intron			Q9H7B7	CG069_HUMAN	chromosome 7 open reading frame 69	116						extracellular region				lung(2)	2						CATGGATGGAAATAACTGCTG	0.408													False	0	True	7:47859172	0	G	47859172	A	G	47859172	3	3	88	1	0	0	0	0	1	0	0	0	2433	14	1	4	356	4	C7orf69	7	47859172	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	451204	47859172	111279491	8088	15800											
PKD1L1	168507	broad.mit.edu	37	chr7	47886656	47886656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatccaataaggataaataGcctacactggcatctaaaaa	6	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47886656G>A	ENST00000289672.2	-	32	5024	c.4974C>T	c.(4972-4974)ggC>ggT	p.G1658G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1658					cell-cell adhesion	integral to membrane		p.G1658G(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGATAAATAGCCTACACTGG	0.393													False	0	False	7:47886656	0	A	47886656	G	A	47886656	2	1	88	1	0	0	0	0	0	0	0	1	12033	958	34	2		2	PKD1L1	7	47886656	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27484	47886656	111252007	8089	15801											
PKD1L1	168507	broad.mit.edu	37	chr7	47906046	47906046	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagccaatctgcatactgAagaaattaatgcatcctgta	6	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47906046A>G	ENST00000289672.2	-	25	4113	c.4063T>C	c.(4063-4065)Tca>Cca	p.S1355P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1355	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGCATACTGAAGAAATTAAT	0.458													False	0	False	7:47906046	0	G	47906046	A	G	47906046	3	3	88	1	0	0	0	0	1	0	0	0	12033	246	9	4	4618	4	PKD1L1	7	47906046	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19390	47906046	111232617	8090	15802											
PKD1L1	168507	broad.mit.edu	37	chr7	47933614	47933614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctcgcacctccaggcCcacacagtagttgctgtaca	10	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47933614C>A	ENST00000289672.2	-	15	2364	c.2314G>T	c.(2314-2316)Ggc>Tgc	p.G772C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	772	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCTCCAGGCCCACACAGTAG	0.592													False	0	True	7:47933614	0	A	47933614	C	A	47933614	3	1	88	1	0	0	0	0	1	0	0	0	12033	623	22	3	6407	3	PKD1L1	7	47933614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27568	47933614	111205049	8091	15803											
PKD1L1	168507	broad.mit.edu	37	chr7	47979804	47979804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaataccttctgcctggaagCtgatgaggatgggctctgtg	14	8	2	2	rs145121666		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47979804C>T	ENST00000289672.2	-	3	321	c.271G>A	c.(271-273)Gct>Act	p.A91T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	91					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCTGGAAGCTGATGAGGAT	0.463													False	0	False	7:47979804	0	T	47979804	C	T	47979804	3	4	88	1	0	0	0	0	1	0	0	0	12033	797	28	2	8498	2	PKD1L1	7	47979804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46190	47979804	111158859	8092	15804											
HUS1	3364	broad.mit.edu	37	chr7	48018022	48018022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctactcaccagctccaCggagaccgtgaggcagggaa	11	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48018022C>T	ENST00000258774.5	-	3	372	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	HUS1_ENST00000432325.1_Missense_Mutation_p.V96M	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	117					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				ACCAGCTCCACGGAGACCGTG	0.443								Direct reversal of damage;Other conserved DNA damage response genes					False	0	False	7:48018022	0	T	48018022	C	T	48018022	3	4	88	1	0	0	0	0	1	0	0	0	7509	536	19	1	517	1	HUS1	7	48018022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38218	48018022	111120641	8093	15805											
ABCA13	154664	broad.mit.edu	37	chr7	48259027	48259027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaagagatacaagacctgGcagaggaaattcatggaatg	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48259027G>A	ENST00000435803.1	+	4	388	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	122					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAAGACCTGGCAGAGGAAAT	0.398													False	0	False	7:48259027	0	A	48259027	G	A	48259027	3	1	88	1	0	0	0	0	1	0	0	0	31	1203	42	2	207	2	ABCA13	7	48259027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241005	48259027	110879636	8094	15806											
ABCA13	154664	broad.mit.edu	37	chr7	48259051	48259051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaaattcatggaatgatgGacaaggcaaaaaacttaaaa	9	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48259051G>A	ENST00000435803.1	+	4	412	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	130					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGAATGATGGACAAGGCAAA	0.423													False	0	False	7:48259051	0	A	48259051	G	A	48259051	3	1	88	1	0	0	0	0	1	0	0	0	31	1174	41	2	231	2	ABCA13	7	48259051	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	48259051	110879612	8095	15807											
ABCA13	154664	broad.mit.edu	37	chr7	48311809	48311809	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaaggaaaaagagctaAattggaaaacttctttacac	6	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48311809A>C	ENST00000435803.1	+	17	2570	c.2546A>C	c.(2545-2547)aAa>aCa	p.K849T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	849					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAAAGAGCTAAATTGGAAAAC	0.299													False	0	True	7:48311809	0	C	48311809	A	C	48311809	3	2	88	1	0	0	0	0	1	0	0	0	31	14	1	4	2441	4	ABCA13	7	48311809	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52758	48311809	110826854	8096	15808											
ABCA13	154664	broad.mit.edu	37	chr7	48313692	48313692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatattgtacttactacaGtctttgaaaaagagaagaaa	6	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48313692G>A	ENST00000435803.1	+	17	4453	c.4429G>A	c.(4429-4431)Gtc>Atc	p.V1477I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1477					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACTTACTACAGTCTTTGAAAA	0.279													False	0	False	7:48313692	0	A	48313692	G	A	48313692	3	1	88	1	0	0	0	0	1	0	0	0	31	1029	36	2	4324	2	ABCA13	7	48313692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1883	48313692	110824971	8097	15809											
ABCA13	154664	broad.mit.edu	37	chr7	48314629	48314629	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttcaaatatcaccaaggAagacttcgcaattgtgataa	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48314629A>G	ENST00000435803.1	+	17	5390	c.5366A>G	c.(5365-5367)gAa>gGa	p.E1789G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1789					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCACCAAGGAAGACTTCGCA	0.388													False	0	False	7:48314629	0	G	48314629	A	G	48314629	3	3	88	1	0	0	0	0	1	0	0	0	31	246	9	4	5261	4	ABCA13	7	48314629	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	937	48314629	110824034	8098	15810											
ABCA13	154664	broad.mit.edu	37	chr7	48317894	48317894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcaagatttatttaatgCccttctcagggaaacttcaa	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48317894C>T	ENST00000435803.1	+	18	7127	c.7103C>T	c.(7102-7104)gCc>gTc	p.A2368V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2368					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTTAATGCCCTTCTCAGG	0.308													False	0	True	7:48317894	0	T	48317894	C	T	48317894	3	4	88	1	0	0	0	0	1	0	0	0	31	739	26	2	7002	2	ABCA13	7	48317894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3265	48317894	110820769	8099	15811											
ABCA13	154664	broad.mit.edu	37	chr7	48378016	48378016	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagaaaaccagttgcacattGatgtagacaaacttactgaa	7	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48378016G>A	ENST00000435803.1	+	29	10192	c.10168G>A	c.(10168-10170)Gat>Aat	p.D3390N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3390					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTTGCACATTGATGTAGACAA	0.383													False	0	False	7:48378016	0	A	48378016	G	A	48378016	3	1	88	1	0	0	0	0	1	0	0	0	31	1290	45	2	10111	2	ABCA13	7	48378016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60122	48378016	110760647	8100	15812											
ABCA13	154664	broad.mit.edu	37	chr7	48556458	48556458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattatgccccggttgctagCcatcatctccaaagctaagg	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48556458C>T	ENST00000435803.1	+	52	13802	c.13778C>T	c.(13777-13779)gCc>gTc	p.A4593V	ABCA13_ENST00000544596.1_Missense_Mutation_p.A323V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4593					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGGTTGCTAGCCATCATCTCC	0.448													False	0	False	7:48556458	0	T	48556458	C	T	48556458	3	4	88	1	0	0	0	0	1	0	0	0	31	739	26	2	13813	2	ABCA13	7	48556458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178442	48556458	110582205	8101	15813											
VWC2	375567	broad.mit.edu	37	chr7	49842318	49842318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttcaggtgtctccatgCgagaggtgtcgctgtgaagc	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:49842318C>T	ENST00000340652.4	+	3	1264	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2		VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TGTCTCCATGCGAGAGGTGTC	0.507													False	0	False	7:49842318	0	T	49842318	C	T	49842318	2	4	88	1	0	0	0	0	0	0	0	1	17327	776	27	1		1	VWC2	7	49842318	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1285860	49842318	109296345	8102	15814											
IKZF1	10320	broad.mit.edu	37	chr7	50444294	50444294	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgcctgtgaaatgaatgGggaagaatgtgcggaggatt	17	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50444294G>T	ENST00000331340.3	+	4	379	c.224G>T	c.(223-225)gGg>gTg	p.G75V	IKZF1_ENST00000359197.5_Missense_Mutation_p.G75V|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.G75V|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.G75V|IKZF1_ENST00000349824.4_Missense_Mutation_p.G75V|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000440768.2_Missense_Mutation_p.G75V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	75					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAAATGAATGGGGAAGAATGT	0.488			"D,T"	BCL6	"ALL, DLBCL"								False	0	True	7:50444294	0	T	50444294	G	T	50444294	3	4	88	1	0	0	0	0	1	0	0	0	7664	1232	43	3	234	3	IKZF1	7	50444294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	601976	50444294	108694369	8103	15815											
IKZF1	10320	broad.mit.edu	37	chr7	50444451	50444451	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctgtgggatcatttgcatCgggcccaatgtgctcatggt	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50444451C>T	ENST00000331340.3	+	4	536	c.381C>T	c.(379-381)atC>atT	p.I127I	IKZF1_ENST00000359197.5_Silent_p.I127I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Silent_p.I127I|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000357364.4_Silent_p.I127I|IKZF1_ENST00000349824.4_Silent_p.I127I|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000440768.2_Silent_p.I127I	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	127					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCATTTGCATCGGGCCCAATG	0.517			"D,T"	BCL6	"ALL, DLBCL"								False	0	True	7:50444451	0	T	50444451	C	T	50444451	2	4	88	1	0	0	0	0	0	0	0	1	7664	874	31	1		1	IKZF1	7	50444451	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157	50444451	108694212	8104	15816											
IKZF1	10320	broad.mit.edu	37	chr7	50459558	50459558	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctctatgcctcagaaatttCttggtaagagttaaatgttt	8	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50459558C>A	ENST00000331340.3	+	7	1002	c.847C>A	c.(847-849)Ctt>Att	p.L283I	IKZF1_ENST00000359197.5_Missense_Mutation_p.L241I|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.L241I|IKZF1_ENST00000343574.5_Missense_Mutation_p.L196I|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.L196I|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	283					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCAGAAATTTCTTGGTAAGAG	0.408			"D,T"	BCL6	"ALL, DLBCL"								False	0	True	7:50459558	0	A	50459558	C	A	50459558	3	1	88	1	0	0	0	0	1	0	0	0	7664	913	32	3	869	3	IKZF1	7	50459558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15107	50459558	108679105	8105	15817											
IKZF1	10320	broad.mit.edu	37	chr7	50468219	50468219	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catccacatgggctgccacgGcttccgtgatccttttgagt	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50468219G>T	ENST00000331340.3	+	8	1609	c.1454G>T	c.(1453-1455)gGc>gTc	p.G485V	IKZF1_ENST00000359197.5_Missense_Mutation_p.G443V|IKZF1_ENST00000346667.4_Missense_Mutation_p.G255V|IKZF1_ENST00000439701.1_Missense_Mutation_p.G443V|IKZF1_ENST00000343574.5_Missense_Mutation_p.G398V|IKZF1_ENST00000357364.4_Missense_Mutation_p.G398V|IKZF1_ENST00000349824.4_Missense_Mutation_p.G342V|IKZF1_ENST00000438033.1_Missense_Mutation_p.G398V|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	485					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)|p.G485D(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGCTGCCACGGCTTCCGTGAT	0.587			"D,T"	BCL6	"ALL, DLBCL"								False	0	False	7:50468219	0	T	50468219	G	T	50468219	3	4	88	1	0	0	0	0	1	0	0	0	7664	1203	42	3	1480	3	IKZF1	7	50468219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8661	50468219	108670444	8106	15818											
GRB10	2887	broad.mit.edu	37	chr7	50685801	50685801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgactgccatttgactgCtggcaccaagtaaccatctg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50685801C>T	ENST00000403097.1	-	9	1575	c.795G>A	c.(793-795)caG>caA	p.Q265Q	GRB10_ENST00000401949.1_Silent_p.Q271Q|GRB10_ENST00000407526.1_Silent_p.Q213Q|GRB10_ENST00000402497.1_Silent_p.Q213Q|GRB10_ENST00000398812.2_Silent_p.Q271Q|GRB10_ENST00000357271.5_Silent_p.Q271Q|GRB10_ENST00000406641.1_Silent_p.Q213Q|GRB10_ENST00000335866.3_Silent_p.Q213Q|GRB10_ENST00000398810.2_Silent_p.Q213Q|GRB10_ENST00000402578.1_Silent_p.Q213Q|GRB10_ENST00000439599.1_Silent_p.Q265Q			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	271					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CATTTGACTGCTGGCACCAAG	0.403									Russell-Silver syndrome				False	0	False	7:50685801	0	T	50685801	C	T	50685801	2	4	88	1	0	0	0	0	0	0	0	1	6803	796	28	2		2	GRB10	7	50685801	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217582	50685801	108452862	8107	15819											
GRB10	2887	broad.mit.edu	37	chr7	50694671	50694671	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcttcactaaagactttaAcatcctgcaacacacaaagg	4	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50694671A>C	ENST00000403097.1	-	7	1271	c.491T>G	c.(490-492)gTt>gGt	p.V164G	GRB10_ENST00000401949.1_Missense_Mutation_p.V170G|GRB10_ENST00000407526.1_Missense_Mutation_p.V112G|GRB10_ENST00000402497.1_Missense_Mutation_p.V112G|GRB10_ENST00000398812.2_Missense_Mutation_p.V170G|GRB10_ENST00000357271.5_Missense_Mutation_p.V170G|GRB10_ENST00000406641.1_Missense_Mutation_p.V112G|GRB10_ENST00000335866.3_Missense_Mutation_p.V112G|GRB10_ENST00000398810.2_Missense_Mutation_p.V112G|GRB10_ENST00000402578.1_Missense_Mutation_p.V112G|GRB10_ENST00000439599.1_Missense_Mutation_p.V164G			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	170					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AAAGACTTTAACATCCTGCAA	0.383									Russell-Silver syndrome				False	0	False	7:50694671	0	C	50694671	A	C	50694671	3	2	88	1	0	0	0	0	1	0	0	0	6803	43	2	4	1323	4	GRB10	7	50694671	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8870	50694671	108443992	8108	15820											
GRB10	2887	broad.mit.edu	37	chr7	50778592	50778592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttactacggaacagagggcCggcagcttgcataggaggtc	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50778592C>T	ENST00000403097.1	-	3	793	c.13G>A	c.(13-15)Ggc>Agc	p.G5S	GRB10_ENST00000401949.1_Intron|GRB10_ENST00000407526.1_Intron|GRB10_ENST00000402497.1_Intron|GRB10_ENST00000398812.2_Intron|GRB10_ENST00000357271.5_Intron|GRB10_ENST00000406641.1_Intron|GRB10_ENST00000335866.3_Intron|GRB10_ENST00000402578.1_Intron|GRB10_ENST00000439599.1_Missense_Mutation_p.G5S			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	0					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AACAGAGGGCCGGCAGCTTGC	0.498									Russell-Silver syndrome				False	0	False	7:50778592	0	T	50778592	C	T	50778592	3	4	88	1	0	0	0	0	1	0	0	0	6803	667	23	1		1	GRB10	7	50778592	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83921	50778592	108360071	8109	15821											
COBL	23242	broad.mit.edu	37	chr7	51092833	51092833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctcgcagcccctgtgccGgagcggatggcgtccatcaa	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51092833G>A	ENST00000395542.2	-	14	4171	c.3987C>T	c.(3985-3987)tcC>tcT	p.S1329S	COBL_ENST00000265136.7_Silent_p.S1247S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1247										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCCCTGTGCCGGAGCGGATGG	0.632													False	0	False	7:51092833	0	A	51092833	G	A	51092833	2	1	88	1	0	0	0	0	0	0	0	1	3676	1103	39	1		1	COBL	7	51092833	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	314241	51092833	108045830	8110	15822											
COBL	23242	broad.mit.edu	37	chr7	51095503	51095503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactggtctctggacaacaGgtttgaattttttcttcggc	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51095503G>A	ENST00000395542.2	-	12	3720	c.3536C>T	c.(3535-3537)cCt>cTt	p.P1179L	COBL_ENST00000265136.7_Missense_Mutation_p.P1097L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1097										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGGACAACAGGTTTGAATTT	0.498													False	0	False	7:51095503	0	A	51095503	G	A	51095503	3	1	88	1	0	0	0	0	1	0	0	0	3676	1000	35	2	511	2	COBL	7	51095503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2670	51095503	108043160	8111	15823											
COBL	23242	broad.mit.edu	37	chr7	51096022	51096022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgggcaccatccttccatCcttgtgtctctgagtgtggg	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51096022C>T	ENST00000395542.2	-	12	3201	c.3017G>A	c.(3016-3018)gGa>gAa	p.G1006E	COBL_ENST00000265136.7_Missense_Mutation_p.G924E			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	924										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ATCCTTCCATCCTTGTGTCTC	0.592													False	0	False	7:51096022	0	T	51096022	C	T	51096022	3	4	88	1	0	0	0	0	1	0	0	0	3676	855	30	2	1030	2	COBL	7	51096022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	519	51096022	108042641	8112	15824											
COBL	23242	broad.mit.edu	37	chr7	51097021	51097021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacttcctcccttgcctttTcatggggctggctgtgctca	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51097021T>C	ENST00000395542.2	-	12	2202	c.2018A>G	c.(2017-2019)gAa>gGa	p.E673G	COBL_ENST00000265136.7_Missense_Mutation_p.E591G			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	591										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCTTGCCTTTTCATGGGGCTG	0.537													False	0	True	7:51097021	0	C	51097021	T	C	51097021	3	2	88	1	0	0	0	0	1	0	0	0	3676	1783	62	4	2029	4	COBL	7	51097021	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	999	51097021	108041642	8113	15825											
VSTM2A	222008	broad.mit.edu	37	chr7	54612463	54612463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacctggatcccggggcCgagggggccggcgcgcaggt	21	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:54612463C>T	ENST00000302287.3	+	2	634	c.228C>T	c.(226-228)gcC>gcT	p.A76A	VSTM2A_ENST00000402613.3_Silent_p.A76A|VSTM2A_ENST00000404951.1_Silent_p.A76A|VSTM2A_ENST00000402026.2_Silent_p.A75A|VSTM2A_ENST00000407838.3_Silent_p.A76A			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	76	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATCCCGGGGCCGAGGGGGCCG	0.736													False	0	False	7:54612463	0	T	54612463	C	T	54612463	2	4	88	1	0	0	0	0	0	0	0	1	17313	639	23	1		1	VSTM2A	7	54612463	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3515442	54612463	104526200	8114	15826											
SEC61G	23480	broad.mit.edu	37	chr7	54825203	54825203	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attaccttttctatcaggttTagtgcatcttttaaccagcc	5	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:54825203T>G	ENST00000415949.1	-	3	445	c.79A>C	c.(79-81)Aaa>Caa	p.K27Q	SEC61G_ENST00000352861.4_Missense_Mutation_p.K27Q|SEC61G_ENST00000395535.3_Missense_Mutation_p.K27Q|SEC61G_ENST00000450622.1_Missense_Mutation_p.K27Q			P60059	SC61G_HUMAN	Sec61 gamma subunit	27					protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|lung(5)	6	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			CTATCAGGTTTAGTGCATCTT	0.353													False	0	True	7:54825203	0	G	54825203	T	G	54825203	3	3	88	1	0	0	0	0	1	0	0	0	14084	1763	61	4	139	4	SEC61G	7	54825203	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	212740	54825203	104313460	8115	15827											
EGFR	1956	broad.mit.edu	37	chr7	55240761	55240761	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggatcggcctcttcatgCgaaggcgccacatcgttcgg	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55240761C>T	ENST00000275493.2	+	17	2182	c.2005C>T	c.(2005-2007)Cga>Tga	p.R669*	EGFR_ENST00000455089.1_Nonsense_Mutation_p.R624*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.R616*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	669					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R669*(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCTCTTCATGCGAAGGCGCCA	0.667		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			False	0	False	7:55240761	0	T	55240761	C	T	55240761	4	4	88	1	0	0	0	0	0	1	0	0	4997	760	27	1	2335	1	EGFR	7	55240761	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415558	55240761	103897902	8116	15828											
EGFR	1956	broad.mit.edu	37	chr7	55249101	55249101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccttcggctgcctcctggActatgtccgggaacacaaag	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55249101A>G	ENST00000275493.2	+	20	2576	c.2399A>G	c.(2398-2400)gAc>gGc	p.D800G	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.D755G|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.D747G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	800	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCTCCTGGACTATGTCCGG	0.602		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			False	0	False	7:55249101	0	G	55249101	A	G	55249101	3	3	88	1	0	0	0	0	1	0	0	0	4997	275	10	4	2741	4	EGFR	7	55249101	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8340	55249101	103889562	8117	15829											
LANCL2	55915	broad.mit.edu	37	chr7	55459508	55459508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcataatttcataagacGgatccagaccaaaattaaag	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55459508G>A	ENST00000254770.2	+	2	805	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	76					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TTCATAAGACGGATCCAGACC	0.388													False	0	False	7:55459508	0	A	55459508	G	A	55459508	3	1	88	1	0	0	0	0	1	0	0	0	8672	1116	39	1	233	1	LANCL2	7	55459508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	210407	55459508	103679155	8118	15830											
ZNF713	349075	broad.mit.edu	37	chr7	56007425	56007425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggtaaagcttttagccGcatcacatcccttactgaac	7	11	1	1	rs143509812		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56007425G>A	ENST00000429591.2	+	4	1057	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTTTTAGCCGCATCACATCC	0.428													False	0	False	7:56007425	0	A	56007425	G	A	56007425	3	1	88	1	0	0	0	0	1	0	0	0	18200	1087	38	1	1033	1	ZNF713	7	56007425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	547917	56007425	103131238	8119	15831											
GBAS	2631	broad.mit.edu	37	chr7	56051523	56051523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcctgtgccaagatccGgacctaatatatatgaactc	8	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56051523G>A	ENST00000322090.3	+	6	576	c.547G>A	c.(547-549)Gga>Aga	p.G183R	GBAS_ENST00000446778.1_Missense_Mutation_p.G144R	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	183						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCAAGATCCGGACCTAATAT	0.398													False	0	False	7:56051523	0	A	56051523	G	A	56051523	3	1	88	1	0	0	0	0	1	0	0	0	6312	1117	39	1	569	1	GBAS	7	56051523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44098	56051523	103087140	8120	15832											
CCT6A	908	broad.mit.edu	37	chr7	56125777	56125777	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcctcacttgtaacgtgTcattagagtatgagaaaacg	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56125777T>C	ENST00000275603.4	+	6	925	c.706T>C	c.(706-708)Tca>Cca	p.S236P	CCT6A_ENST00000335503.3_Missense_Mutation_p.S191P|CCT6A_ENST00000540286.1_Missense_Mutation_p.S205P	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	236					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTGTAACGTGTCATTAGAGTA	0.408													False	0	False	7:56125777	0	C	56125777	T	C	56125777	3	2	88	1	0	0	0	0	1	0	0	0	2980	1667	58	4	728	4	CCT6A	7	56125777	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	74254	56125777	103012886	8121	15833											
PHKG1	5260	broad.mit.edu	37	chr7	56151035	56151035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgagcttgatgttcatGttgtcatccaagagaatgtt	10	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56151035G>A	ENST00000452681.2	-	7	728	c.579C>T	c.(577-579)aaC>aaT	p.N193N	PHKG1_ENST00000297373.2_Silent_p.N161N|PHKG1_ENST00000537360.1_Silent_p.N107N	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	161	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGATGTTCATGTTGTCATCCA	0.557													False	0	False	7:56151035	0	A	56151035	G	A	56151035	2	1	88	1	0	0	0	0	0	0	0	1	11915	1368	48	2		2	PHKG1	7	56151035	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25258	56151035	102987628	8122	15834											
PHKG1	5260	broad.mit.edu	37	chr7	56155329	56155329	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaccttgcgcaggatgtccAcctccttcagcgtggcttct	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56155329A>G	ENST00000452681.2	-	3	373	c.224T>C	c.(223-225)gTg>gCg	p.V75A	PHKG1_ENST00000489604.1_5'UTR|PHKG1_ENST00000297373.2_Missense_Mutation_p.V75A|PHKG1_ENST00000537360.1_Silent_p.G39G	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	75	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGGATGTCCACCTCCTTCAG	0.647													False	0	False	7:56155329	0	G	56155329	A	G	56155329	3	3	88	1	0	0	0	0	1	0	0	0	11915	159	6	4	971	4	PHKG1	7	56155329	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4294	56155329	102983334	8123	15835											
PHKG1	5260	broad.mit.edu	37	chr7	56155447	56155447	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggcttgtggatgcatcGcctgaccacactgctaacgc	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56155447G>A	ENST00000452681.2	-	3	255	c.106C>T	c.(106-108)Cga>Tga	p.R36*	PHKG1_ENST00000489604.1_5'UTR|PHKG1_ENST00000297373.2_Nonsense_Mutation_p.R36*|PHKG1_ENST00000537360.1_5'UTR	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	36	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGATGCATCGCCTGACCACA	0.657													False	0	False	7:56155447	0	A	56155447	G	A	56155447	4	1	88	1	0	0	0	0	0	1	0	0	11915	1095	38	1	1089	1	PHKG1	7	56155447	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	56155447	102983216	8124	15836											
ZNF716	441234	broad.mit.edu	37	chr7	57528762	57528762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcattttgcatgctttcaCgcctaaatcaacatcagata	4	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57528762C>T	ENST00000420713.1	+	4	707	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CATGCTTTCACGCCTAAATCA	0.338													False	0	False	7:57528762	0	T	57528762	C	T	57528762	3	4	88	1	0	0	0	0	1	0	0	0	18202	536	19	1	609	1	ZNF716	7	57528762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1373315	57528762	101609901	8125	15837											
ZNF716	441234	broad.mit.edu	37	chr7	57529401	57529401	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaaaccctacaaatgtgaaGaatgtggcaaagcctttaac	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57529401G>T	ENST00000420713.1	+	4	1346	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAATGTGAAGAATGTGGCAA	0.403													False	0	False	7:57529401	0	T	57529401	G	T	57529401	4	4	88	1	0	0	0	0	0	1	0	0	18202	943	33	3	1248	3	ZNF716	7	57529401	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	639	57529401	101609262	8126	15838											
ZNF679	168417	broad.mit.edu	37	chr7	63720670	63720670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caatgcctggatcacgctcaGcagaatttatatagagatgt	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:63720670G>T	ENST00000421025.1	+	3	380	c.111G>T	c.(109-111)caG>caT	p.Q37H	ZNF679_ENST00000255746.4_Missense_Mutation_p.Q37H	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATCACGCTCAGCAGAATTTAT	0.383													False	0	False	7:63720670	0	T	63720670	G	T	63720670	3	4	88	1	0	0	0	0	1	0	0	0	18169	962	34	3	117	3	ZNF679	7	63720670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6191269	63720670	95417993	8127	15839											
ZNF679	168417	broad.mit.edu	37	chr7	63727090	63727090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtaaagaatgtgggaaagCctttgccttctcctcaactc	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:63727090C>A	ENST00000421025.1	+	5	1348	c.1079C>A	c.(1078-1080)gCc>gAc	p.A360D	ZNF679_ENST00000255746.4_Missense_Mutation_p.A360D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGTGGGAAAGCCTTTGCCTTC	0.393													False	0	False	7:63727090	0	A	63727090	C	A	63727090	3	1	88	1	0	0	0	0	1	0	0	0	18169	739	26	3	1093	3	ZNF679	7	63727090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6420	63727090	95411573	8128	15840											
ZNF107	51427	broad.mit.edu	37	chr7	64168445	64168445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttgaagaacatggaaaagCttttaacctattctcaaaca	5	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64168445C>A	ENST00000395391.1	+	4	3138	c.1763C>A	c.(1762-1764)gCt>gAt	p.A588D	ZNF107_ENST00000423627.1_Missense_Mutation_p.A588D|ZNF107_ENST00000344930.3_Missense_Mutation_p.A588D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CATGGAAAAGCTTTTAACCTA	0.338													False	0	True	7:64168445	0	A	64168445	C	A	64168445	3	1	88	1	0	0	0	0	1	0	0	0	17798	797	28	3	1769	3	ZNF107	7	64168445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441355	64168445	94970218	8129	15841											
ZNF273	10793	broad.mit.edu	37	chr7	64389058	64389058	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttactaaacataagataaTtcatactggagcaaaacctt	4	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64389058T>G	ENST00000476120.1	+	4	1423	c.1352T>G	c.(1351-1353)aTt>aGt	p.I451S	ZNF273_ENST00000319636.5_Missense_Mutation_p.I386S|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CATAAGATAATTCATACTGGA	0.348													False	0	False	7:64389058	0	G	64389058	T	G	64389058	3	3	88	1	0	0	0	0	1	0	0	0	17891	1493	52	4	1366	4	ZNF273	7	64389058	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220613	64389058	94749605	8130	15842											
ZNF117	51351	broad.mit.edu	37	chr7	64438880	64438880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttgtagggtttctctcCagtatgaattaccttatgtc	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64438880C>T	ENST00000282869.6	-	4	2353	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GGTTTCTCTCCAGTATGAATT	0.388													False	0	True	7:64438880	0	T	64438880	C	T	64438880	3	4	88	1	0	0	0	0	1	0	0	0	17800	603	21	2	386	2	ZNF117	7	64438880	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49822	64438880	94699783	8131	15843											
GUSB	2990	broad.mit.edu	37	chr7	65444521	65444521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttctggacaaagtaaccctTgggatacctaggatgggagg	14	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65444521T>C	ENST00000304895.4	-	4	719	c.589A>G	c.(589-591)Aag>Gag	p.K197E	GUSB_ENST00000345660.6_Missense_Mutation_p.K197E|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_5'UTR	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	197					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AAGTAACCCTTGGGATACCTA	0.547													False	0	True	7:65444521	0	C	65444521	T	C	65444521	3	2	88	1	0	0	0	0	1	0	0	0	6949	1821	63	4	1402	4	GUSB	7	65444521	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1005641	65444521	93694142	8132	15844											
ASL	435	broad.mit.edu	37	chr7	65557861	65557861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgtcgactggcagatcCgccaggtgcgggcgctactg	15	14	0	1	rs144591360	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65557861C>T	ENST00000304874.9	+	17	1459	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395331.3_Missense_Mutation_p.R433C|ASL_ENST00000395332.3_Missense_Mutation_p.R453C|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.R427C	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	453					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CTGGCAGATCCGCCAGGTGCG	0.657													False	0	False	7:65557861	0	T	65557861	C	T	65557861	3	4	88	1	0	0	0	0	1	0	0	0	1048	652	23	1	1419	1	ASL	7	65557861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113340	65557861	93580802	8133	15845											
TPST1	8460	broad.mit.edu	37	chr7	65706099	65706099	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tataaccagtgtatggaggtTggttataaaaagtgcatgtt	11	3	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:65706099T>C	ENST00000304842.5	+	2	1112	c.687T>C	c.(685-687)gtT>gtC	p.V229V	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	229					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTATGGAGGTTGGTTATAAAA	0.403													False	0	True	7:65706099	0	C	65706099	T	C	65706099	2	2	88	1	0	0	0	0	0	0	0	1	16510	1799	63	4		4	TPST1	7	65706099	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	148238	65706099	93432564	8134	15846											
KCTD7	154881	broad.mit.edu	37	chr7	66270342	66270342	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcttctgcaatccaagcCgactgatgactggagaggat	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66270342C>T	ENST00000380828.2	+	10	1310	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Nonsense_Mutation_p.R360*|RABGEF1_ENST00000450873.2_Nonsense_Mutation_p.R346*|KCTD7_ENST00000451741.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000439720.2_Nonsense_Mutation_p.R359*|KCTD7_ENST00000510829.2_Nonsense_Mutation_p.R346*|RABGEF1_ENST00000284957.5_Nonsense_Mutation_p.R346*			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CAATCCAAGCCGACTGATGAC	0.498													False	0	False	7:66270342	0	T	66270342	C	T	66270342	4	4	88	1	0	0	0	0	0	1	0	0	8164	644	23	1		1	KCTD7	7	66270342	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	564243	66270342	92868321	8135	15847											
KCTD7	154881	broad.mit.edu	37	chr7	66274251	66274251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttcctccaccactgcaaCctcaagtttatgcaggatga	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66274251C>T	ENST00000380828.2	+	11	1730	c.1576C>T	c.(1576-1578)Cct>Tct	p.P526S	RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Missense_Mutation_p.P500S|RABGEF1_ENST00000450873.2_Missense_Mutation_p.P486S|KCTD7_ENST00000451741.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P499S|KCTD7_ENST00000510829.2_Missense_Mutation_p.P486S|RABGEF1_ENST00000284957.5_Missense_Mutation_p.P486S			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ACCACTGCAACCTCAAGTTTA	0.398													False	0	False	7:66274251	0	T	66274251	C	T	66274251	3	4	88	1	0	0	0	0	1	0	0	0	8164	507	18	2		2	KCTD7	7	66274251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3909	66274251	92864412	8136	15848											
TYW1	55253	broad.mit.edu	37	chr7	66489989	66489989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatttgggcaaaattatgGatcatgtgaagaaagaaaag	11	2	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66489989G>A	ENST00000359626.5	+	7	1128	c.964G>A	c.(964-966)Gat>Aat	p.D322N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	322					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAAAATTATGGATCATGTGAA	0.408													False	0	False	7:66489989	0	A	66489989	G	A	66489989	3	1	88	1	0	0	0	0	1	0	0	0	16902	1174	41	2	990	2	TYW1	7	66489989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215738	66489989	92648674	8137	15849											
TYW1	55253	broad.mit.edu	37	chr7	66514984	66514984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtttgttcaggaacatgGggaggaatgaagatggtgaa	16	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66514984G>A	ENST00000359626.5	+	8	1197	c.1033G>A	c.(1033-1035)Ggg>Agg	p.G345R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	345					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAGGAACATGGGGAGGAATGA	0.373													False	0	True	7:66514984	0	A	66514984	G	A	66514984	3	1	88	1	0	0	0	0	1	0	0	0	16902	1232	43	2	1063	2	TYW1	7	66514984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24995	66514984	92623679	8138	15850											
TYW1	55253	broad.mit.edu	37	chr7	66660217	66660217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggcccacgtgccctggCatgaggaagtggtacagttt	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66660217C>T	ENST00000359626.5	+	15	2034	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	624					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CGTGCCCTGGCATGAGGAAGT	0.488													False	0	False	7:66660217	0	T	66660217	C	T	66660217	3	4	88	1	0	0	0	0	1	0	0	0	16902	710	25	2	1928	2	TYW1	7	66660217	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145233	66660217	92478446	8139	15851											
STAG3L4	0	broad.mit.edu	37	chr7	66767872	66767872	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggcgttggccacctacaGgtaggagcgcgggcccctcc	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66767872G>A	ENST00000416602.2	+	0	265					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCCACCTACAGGTAGGAGCGC	0.746													False	0	False	7:66767872	0	A	66767872	G	A	66767872	1	1	88	0	1	0	0	0	0	0	0	0	15329	1014	35	2		2	STAG3L4	7	66767872	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107655	66767872	92370791	8140	15852											
AUTS2	26053	broad.mit.edu	37	chr7	70231115	70231115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagagcaagacatcttgcGacaggaactgaacactcgtt	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70231115G>A	ENST00000342771.4	+	9	1805	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.R495Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	495										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACATCTTGCGACAGGAACTG	0.582													False	0	False	7:70231115	0	A	70231115	G	A	70231115	3	1	88	1	0	0	0	0	1	0	0	0	1229	1058	37	1	1663	1	AUTS2	7	70231115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3463243	70231115	88907548	8141	15853											
AUTS2	26053	broad.mit.edu	37	chr7	70231305	70231305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccgccatcatgccgacGccagcacctcccatggtgcg	9	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70231305G>A	ENST00000342771.4	+	9	1995	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	AUTS2_ENST00000406775.2_Silent_p.T558T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	558										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCATGCCGACGCCAGCACCTC	0.627													False	0	False	7:70231305	0	A	70231305	G	A	70231305	2	1	88	1	0	0	0	0	0	0	0	1	1229	1074	38	1		1	AUTS2	7	70231305	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190	70231305	88907358	8142	15854											
AUTS2	26053	broad.mit.edu	37	chr7	70239029	70239029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtagacatccaaccctatcGatgtcgctgctcggcctggg	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70239029G>A	ENST00000342771.4	+	12	2167	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	AUTS2_ENST00000406775.2_Intron	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	616										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAACCCTATCGATGTCGCTGC	0.488													False	0	False	7:70239029	0	A	70239029	G	A	70239029	3	1	88	1	0	0	0	0	1	0	0	0	1229	1058	37	1	2037	1	AUTS2	7	70239029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7724	70239029	88899634	8143	15855											
AUTS2	26053	broad.mit.edu	37	chr7	70255978	70255978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgaaggatatcgaggcccGataagccgagaacaggagca	14	9	0	2	rs148604002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70255978G>A	ENST00000342771.4	+	19	4097	c.3776G>A	c.(3775-3777)cGa>cAa	p.R1259Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1235Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1259										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ATCGAGGCCCGATAAGCCGAG	0.602													False	0	True	7:70255978	0	A	70255978	G	A	70255978	3	1	88	1	0	0	0	0	1	0	0	0	1229	1058	37	1	3995	1	AUTS2	7	70255978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16949	70255978	88882685	8144	15856											
TYW1B	441250	broad.mit.edu	37	chr7	72277809	72277809	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaagtgcctgcagctgggaGatgaacttggtcttccatgc	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72277809G>A	ENST00000438904.2	-	0	671				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GCAGCTGGGAGATGAACTTGG	0.537													False	0	False	7:72277809	0	A	72277809	G	A	72277809	1	1	88	0	1	0	0	0	0	0	0	0	16903	932	33	2		2	TYW1B	7	72277809	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2021831	72277809	86860854	8145	15857											
POM121	9883	broad.mit.edu	37	chr7	72413259	72413259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacactgccgtgccaacGgccaccagcagcagcgctgc	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413259G>A	ENST00000395270.1	+	14	2973	c.1932G>A	c.(1930-1932)acG>acA	p.T644T	POM121_ENST00000257622.4_Silent_p.T644T|POM121_ENST00000358357.3_Silent_p.T644T|POM121_ENST00000446813.1_Silent_p.T644T|POM121_ENST00000434423.2_Silent_p.T909T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	909	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCGTGCCAACGGCCACCAGCA	0.627													False	0	False	7:72413259	0	A	72413259	G	A	72413259	2	1	88	1	0	0	0	0	0	0	0	1	12308	1103	39	1		1	POM121	7	72413259	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135450	72413259	86725404	8146	15858											
POM121	9883	broad.mit.edu	37	chr7	72413455	72413455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccgcatttggggccGctgaggggcagccaccgggg	17	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413455G>A	ENST00000395270.1	+	14	3169	c.2128G>A	c.(2128-2130)Gct>Act	p.A710T	POM121_ENST00000257622.4_Missense_Mutation_p.A710T|POM121_ENST00000358357.3_Missense_Mutation_p.A710T|POM121_ENST00000446813.1_Missense_Mutation_p.A710T|POM121_ENST00000434423.2_Missense_Mutation_p.A975T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	975	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATTTGGGGCCGCTGAGGGGCA	0.652													False	0	False	7:72413455	0	A	72413455	G	A	72413455	3	1	88	1	0	0	0	0	1	0	0	0	12308	1087	38	1	2166	1	POM121	7	72413455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196	72413455	86725208	8147	15859											
POM121	9883	broad.mit.edu	37	chr7	72413671	72413671	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagccacggcttcggccTtcggcgctcccgccagctca	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413671T>G	ENST00000395270.1	+	14	3385	c.2344T>G	c.(2344-2346)Ttc>Gtc	p.F782V	POM121_ENST00000257622.4_Missense_Mutation_p.F782V|POM121_ENST00000358357.3_Missense_Mutation_p.F782V|POM121_ENST00000446813.1_Missense_Mutation_p.F782V|POM121_ENST00000434423.2_Missense_Mutation_p.F1047V	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1047	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGCTTCGGCCTTCGGCGCTCC	0.647													False	0	True	7:72413671	0	G	72413671	T	G	72413671	3	3	88	1	0	0	0	0	1	0	0	0	12308	1609	56	4	2382	4	POM121	7	72413671	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	216	72413671	86724992	8148	15860											
NSUN5	55695	broad.mit.edu	37	chr7	72721672	72721672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactcagccttgagcctcGcctggtgccggcccaacaga	10	17	1	2	rs137916678	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72721672G>A	ENST00000252594.6	-	3	314	c.299C>T	c.(298-300)gCg>gTg	p.A100V	NSUN5_ENST00000428206.1_Intron|NSUN5_ENST00000310326.8_Missense_Mutation_p.A100V|NSUN5_ENST00000438747.2_Missense_Mutation_p.A100V			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	100				A -> P (in Ref. 1; AAL16067).			methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTTGAGCCTCGCCTGGTGCCG	0.597													False	0	False	7:72721672	0	A	72721672	G	A	72721672	3	1	88	1	0	0	0	0	1	0	0	0	10749	1087	38	1	1154	1	NSUN5	7	72721672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308001	72721672	86416991	8149	15861											
TRIM50	135892	broad.mit.edu	37	chr7	72734178	72734178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggttgttcaccagtttggCgatgagctcatccacctttt	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72734178C>T	ENST00000333149.2	-	3	663	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	TRIM50_ENST00000453152.1_Missense_Mutation_p.A155T	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	155						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						ACCAGTTTGGCGATGAGCTCA	0.587													False	0	False	7:72734178	0	T	72734178	C	T	72734178	3	4	88	1	0	0	0	0	1	0	0	0	16609	768	27	1	1020	1	TRIM50	7	72734178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12506	72734178	86404485	8150	15862											
TRIM50	135892	broad.mit.edu	37	chr7	72738607	72738607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagggagctgctgccgtccAccgcctgccggcacacgggg	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72738607A>G	ENST00000333149.2	-	2	379	c.179T>C	c.(178-180)gTg>gCg	p.V60A	TRIM50_ENST00000453152.1_Missense_Mutation_p.V60A|TRIM50_ENST00000493498.1_5'UTR	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	60						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GCTGCCGTCCACCGCCTGCCG	0.687											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	7:72738607	0	G	72738607	A	G	72738607	3	3	88	1	0	0	0	0	1	0	0	0	16609	159	6	4	1308	4	TRIM50	7	72738607	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4429	72738607	86400056	8151	15863											
FKBP6	8468	broad.mit.edu	37	chr7	72754785	72754785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgctatggagagcaggCtttgatcattgaccaaaaga	11	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72754785C>A	ENST00000252037.4	+	6	803	c.734C>A	c.(733-735)gCt>gAt	p.A245D	FKBP6_ENST00000431982.2_Missense_Mutation_p.A240D|FKBP6_ENST00000413573.2_Missense_Mutation_p.A215D	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	245					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGAGAGCAGGCTTTGATCATT	0.522													False	0	True	7:72754785	0	A	72754785	C	A	72754785	3	1	88	1	0	0	0	0	1	0	0	0	5952	797	28	3	802	3	FKBP6	7	72754785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16178	72754785	86383878	8152	15864											
FZD9	8326	broad.mit.edu	37	chr7	72849343	72849343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggtgggtggtcctgacgCtcacctggttcctggctgcc	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72849343C>T	ENST00000344575.3	+	1	1235	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	336					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGTCCTGACGCTCACCTGGTT	0.647													False	0	False	7:72849343	0	T	72849343	C	T	72849343	3	4	88	1	0	0	0	0	1	0	0	0	6179	797	28	2	1008	2	FZD9	7	72849343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94558	72849343	86289320	8153	15865											
FZD9	8326	broad.mit.edu	37	chr7	72849501	72849501	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgagctgactgggctttgCtacgtggccagcacggatgc	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72849501C>A	ENST00000344575.3	+	1	1393	c.1164C>A	c.(1162-1164)tgC>tgA	p.C388*		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	388					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGGGCTTTGCTACGTGGCCA	0.642													False	0	False	7:72849501	0	A	72849501	C	A	72849501	4	1	88	1	0	0	0	0	0	1	0	0	6179	805	28	3	1166	3	FZD9	7	72849501	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158	72849501	86289162	8154	15866											
TBL2	26608	broad.mit.edu	37	chr7	72987671	72987671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgttagcaatgccaatgtCgatgacaggcgccttgtgct	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72987671C>T	ENST00000305632.5	-	4	818	c.577G>A	c.(577-579)Gac>Aac	p.D193N	TBL2_ENST00000432538.1_Missense_Mutation_p.D157N|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Missense_Mutation_p.D193N	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	193										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATGCCAATGTCGATGACAGGC	0.522													False	0	False	7:72987671	0	T	72987671	C	T	72987671	3	4	88	1	0	0	0	0	1	0	0	0	15724	884	31	1	782	1	TBL2	7	72987671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138170	72987671	86150992	8155	15867											
MLXIPL	51085	broad.mit.edu	37	chr7	73010506	73010506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgggctgggcactgaGtgtgctcacgagcccatgaa	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73010506G>A	ENST00000313375.3	-	13	2082	c.2035C>T	c.(2035-2037)Ctc>Ttc	p.L679F	MLXIPL_ENST00000429400.2_Missense_Mutation_p.L679F|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L677F|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L585F|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L586F|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L677F	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	679					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGGCACTGAGTGTGCTCACG	0.627													False	0	False	7:73010506	0	A	73010506	G	A	73010506	3	1	88	1	0	0	0	0	1	0	0	0	9704	1029	36	2	543	2	MLXIPL	7	73010506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22835	73010506	86128157	8156	15868											
MLXIPL	51085	broad.mit.edu	37	chr7	73012016	73012016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcaggaaggcgctggagtCcaaggggccagggcagctgt	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73012016C>T	ENST00000313375.3	-	9	1146	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	MLXIPL_ENST00000429400.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000414749.2_Missense_Mutation_p.D367N|MLXIPL_ENST00000434326.1_Missense_Mutation_p.D274N|MLXIPL_ENST00000395189.1_Missense_Mutation_p.D274N|MLXIPL_ENST00000354613.1_Missense_Mutation_p.D367N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	367					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCGCTGGAGTCCAAGGGGCCA	0.652													False	0	False	7:73012016	0	T	73012016	C	T	73012016	3	4	88	1	0	0	0	0	1	0	0	0	9704	855	30	2	1495	2	MLXIPL	7	73012016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1510	73012016	86126647	8157	15869											
VPS37D	155382	broad.mit.edu	37	chr7	73085532	73085532	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccccccaaatccttcccGgctgcagctgtcctgcccac	7	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73085532G>A	ENST00000324941.4	+	4	716	c.582G>A	c.(580-582)ccG>ccA	p.P194P	VPS37D_ENST00000451519.1_Silent_p.P109P	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN	vacuolar protein sorting 37 homolog D (S. cerevisiae)	194					cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				AATCCTTCCCGGCTGCAGCTG	0.736													False	0	True	7:73085532	0	A	73085532	G	A	73085532	2	1	88	1	0	0	0	0	0	0	0	1	17292	1103	39	1		1	VPS37D	7	73085532	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73516	73085532	86053131	8158	15870											
ABHD11	83451	broad.mit.edu	37	chr7	73151260	73151260	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actacccaggctagcttactGcacgaactgggagtttccac	9	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73151260G>T	ENST00000222800.3	-	5	883	c.814C>A	c.(814-816)Cat>Aat	p.H272N	ABHD11_ENST00000395147.4_Splice_Site_p.H215N|ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000437775.2_Splice_Site_p.H265N	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	272							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTAGCTTACTGCACGAACTGG	0.612													False	0	False	7:73151260	0	T	73151260	G	T	73151260	5	4	88	1	0	0	0	0	0	0	1	0	75	1333	46	3	141	3	ABHD11	7	73151260	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65728	73151260	85987403	8159	15871											
CLDN3	1365	broad.mit.edu	37	chr7	73183818	73183818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggccgtgtacttcttctCgcgtgggggacacgagcagc	16	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73183818C>T	ENST00000395145.2	-	1	782	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	188					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				TACTTCTTCTCGCGTGGGGGA	0.716													False	0	False	7:73183818	0	T	73183818	C	T	73183818	3	4	88	1	0	0	0	0	1	0	0	0	3509	893	31	1	104	1	CLDN3	7	73183818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32558	73183818	85954845	8160	15872											
CLDN3	1365	broad.mit.edu	37	chr7	73184141	73184141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaccacgatgagggcgCgggccgcctgaaggtcctgt	16	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73184141C>T	ENST00000395145.2	-	1	459	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	80					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				GATGAGGGCGCGGGCCGCCTG	0.677													False	0	True	7:73184141	0	T	73184141	C	T	73184141	3	4	88	1	0	0	0	0	1	0	0	0	3509	768	27	1	427	1	CLDN3	7	73184141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	323	73184141	85954522	8161	15873											
CLDN3	1365	broad.mit.edu	37	chr7	73184317	73184317	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgggcaacgcgcagcacacGatggtgcccagccagcccag	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73184317G>A	ENST00000395145.2	-	1	283	c.63C>T	c.(61-63)atC>atT	p.I21I		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	21					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CGCAGCACACGATGGTGCCCA	0.682													False	0	False	7:73184317	0	A	73184317	G	A	73184317	2	1	88	1	0	0	0	0	0	0	0	1	3509	1048	37	1		1	CLDN3	7	73184317	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176	73184317	85954346	8162	15874											
ELN	2006	broad.mit.edu	37	chr7	73462039	73462039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctacaccacagggaaactGccctatggtgagtgagaccc	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73462039G>A	ENST00000252034.7	+	13	1077	c.678G>A	c.(676-678)ctG>ctA	p.L226L	ELN_ENST00000357036.5_Silent_p.L231L|ELN_ENST00000380553.4_Intron|ELN_ENST00000380576.5_Silent_p.L226L|ELN_ENST00000380562.4_Silent_p.L226L|ELN_ENST00000358929.4_Silent_p.L226L|ELN_ENST00000320399.6_Silent_p.L226L|ELN_ENST00000380575.4_Silent_p.L216L|ELN_ENST00000458204.1_Silent_p.L216L|ELN_ENST00000445912.1_Silent_p.L226L|ELN_ENST00000429192.1_Silent_p.L231L|ELN_ENST00000380584.4_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000414324.1_Silent_p.L221L	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	226					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CAGGGAAACTGCCCTATGGTG	0.607			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						False	0	True	7:73462039	0	A	73462039	G	A	73462039	2	1	88	1	0	0	0	0	0	0	0	1	5103	1306	46	2		2	ELN	7	73462039	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	277722	73462039	85676624	8163	15875											
ELN	2006	broad.mit.edu	37	chr7	73470641	73470641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggaggcattcctacttaCggggttggagctgggggctt	17	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73470641C>T	ENST00000252034.7	+	20	1590	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	ELN_ENST00000466878.1_3'UTR|ELN_ENST00000357036.5_Silent_p.Y402Y|ELN_ENST00000380553.4_Silent_p.Y280Y|ELN_ENST00000380576.5_Silent_p.Y397Y|ELN_ENST00000380562.4_Silent_p.Y397Y|ELN_ENST00000358929.4_Silent_p.Y397Y|ELN_ENST00000320399.6_Silent_p.Y397Y|ELN_ENST00000380575.4_Silent_p.Y387Y|ELN_ENST00000458204.1_Silent_p.Y387Y|ELN_ENST00000445912.1_Silent_p.Y397Y|ELN_ENST00000429192.1_Silent_p.Y402Y|ELN_ENST00000380584.4_Silent_p.Y383Y|ELN_ENST00000320492.7_Silent_p.Y361Y|ELN_ENST00000414324.1_Silent_p.Y392Y	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	397	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TTCCTACTTACGGGGTTGGAG	0.632			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						False	0	True	7:73470641	0	T	73470641	C	T	73470641	2	4	88	1	0	0	0	0	0	0	0	1	5103	547	19	1		1	ELN	7	73470641	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8602	73470641	85668022	8164	15876											
LIMK1	3984	broad.mit.edu	37	chr7	73523282	73523282	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaacgtgctcaagttcatCggggtgctctacaaggacaa	10	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73523282C>T	ENST00000418310.1	+	10	1392	c.1290C>T	c.(1288-1290)atC>atT	p.I430I	LIMK1_ENST00000538333.3_Silent_p.I366I|LIMK1_ENST00000336180.2_Silent_p.I400I			P53667	LIMK1_HUMAN	LIM domain kinase 1	400	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TCAAGTTCATCGGGGTGCTCT	0.597													False	0	True	7:73523282	0	T	73523282	C	T	73523282	2	4	88	1	0	0	0	0	0	0	0	1	8853	874	31	1		1	LIMK1	7	73523282	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52641	73523282	85615381	8165	15877											
EIF4H	7458	broad.mit.edu	37	chr7	73609630	73609630	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtcgttcaaaaggagCaagaatgagcctgcggttgg	15	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73609630C>T	ENST00000265753.8	+	7	878	c.739C>T	c.(739-741)Caa>Taa	p.Q247*	EIF4H_ENST00000353999.6_Nonsense_Mutation_p.Q227*	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	247					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TCAAAAGGAGCAAGAATGAGC	0.607													False	0	False	7:73609630	0	T	73609630	C	T	73609630	4	4	88	1	0	0	0	0	0	1	0	0	5071	711	25	2	765	2	EIF4H	7	73609630	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86348	73609630	85529033	8166	15878											
RFC2	5982	broad.mit.edu	37	chr7	73664070	73664070	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagggctgggtactcaccGcaatgatgatgttgggcaca	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73664070G>A	ENST00000055077.3	-	3	284	c.224C>T	c.(223-225)gCg>gTg	p.A75V	RFC2_ENST00000352131.3_Splice_Site_p.A75V	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	75					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						GGTACTCACCGCAATGATGAT	0.502													False	0	False	7:73664070	0	A	73664070	G	A	73664070	5	1	88	1	0	0	0	0	0	0	1	0	13324	1101	38	1	876	1	RFC2	7	73664070	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54440	73664070	85474593	8167	15879											
CLIP2	7461	broad.mit.edu	37	chr7	73753262	73753262	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagactggcaacgagtcGggatccaacctctcagacag	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73753262G>A	ENST00000223398.6	+	3	933	c.606G>A	c.(604-606)tcG>tcA	p.S202S	CLIP2_ENST00000395060.1_Silent_p.S202S|CLIP2_ENST00000361545.5_Silent_p.S202S	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	202						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCAACGAGTCGGGATCCAACC	0.667													False	0	True	7:73753262	0	A	73753262	G	A	73753262	2	1	88	1	0	0	0	0	0	0	0	1	3556	1103	39	1		1	CLIP2	7	73753262	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89192	73753262	85385401	8168	15880											
CLIP2	7461	broad.mit.edu	37	chr7	73768230	73768230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggcgggacgaagactggCgtggtgcggtacgtggggga	22	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73768230C>T	ENST00000223398.6	+	4	1026	c.699C>T	c.(697-699)ggC>ggT	p.G233G	CLIP2_ENST00000395060.1_Silent_p.G233G|CLIP2_ENST00000361545.5_Silent_p.G233G	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	233						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGAAGACTGGCGTGGTGCGGT	0.647													False	0	False	7:73768230	0	T	73768230	C	T	73768230	2	4	88	1	0	0	0	0	0	0	0	1	3556	755	27	1		1	CLIP2	7	73768230	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14968	73768230	85370433	8169	15881											
CLIP2	7461	broad.mit.edu	37	chr7	73768325	73768325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaatgatggggcggtggCgggcaccaggtatggtgggc	21	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73768325C>T	ENST00000223398.6	+	4	1121	c.794C>T	c.(793-795)gCg>gTg	p.A265V	CLIP2_ENST00000395060.1_Missense_Mutation_p.A265V|CLIP2_ENST00000361545.5_Missense_Mutation_p.A265V	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	265	CAP-Gly 2.					microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGGCGGTGGCGGGCACCAGG	0.652													False	0	True	7:73768325	0	T	73768325	C	T	73768325	3	4	88	1	0	0	0	0	1	0	0	0	3556	768	27	1	804	1	CLIP2	7	73768325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95	73768325	85370338	8170	15882											
CLIP2	7461	broad.mit.edu	37	chr7	73790432	73790432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgctgcgggataaataCgagaaggccctgaaggccta	16	8	0	2	rs138546692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73790432C>T	ENST00000223398.6	+	10	2028	c.1701C>T	c.(1699-1701)taC>taT	p.Y567Y	CLIP2_ENST00000395060.1_Silent_p.Y567Y|CLIP2_ENST00000361545.5_Silent_p.Y532Y	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	567						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGATAAATACGAGAAGGCCC	0.657													False	0	False	7:73790432	0	T	73790432	C	T	73790432	2	4	88	1	0	0	0	0	0	0	0	1	3556	547	19	1		1	CLIP2	7	73790432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22107	73790432	85348231	8171	15883											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73922483	73922483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accgctggaactccgcgttcAcccgcaaagacgagatcatc	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73922483A>G	ENST00000476977.1	+	2	1764	c.73A>G	c.(73-75)Acc>Gcc	p.T25A	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.T25A|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.T25A			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	25						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCGCGTTCACCCGCAAAGA	0.647													False	0	True	7:73922483	0	G	73922483	A	G	73922483	3	3	88	1	0	0	0	0	1	0	0	0	6915	159	6	4	75	4	GTF2IRD1	7	73922483	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	132051	73922483	85216180	8172	15884											
GTF2I	2969	broad.mit.edu	37	chr7	74114664	74114664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtagtgcaggggcttcCggaaggtgttgcctttaaac	15	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:74114664C>T	ENST00000324896.4	+	5	850	c.461C>T	c.(460-462)cCg>cTg	p.P154L	GTF2I_ENST00000443166.1_Missense_Mutation_p.P154L|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000434256.1_RNA|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.P154L|GTF2I_ENST00000353920.4_Missense_Mutation_p.P154L|GTF2I_ENST00000416070.1_Missense_Mutation_p.P154L	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	154					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CAGGGGCTTCCGGAAGGTGTT	0.483													False	0	False	7:74114664	0	T	74114664	C	T	74114664	3	4	88	1	0	0	0	0	1	0	0	0	6914	652	23	1	475	1	GTF2I	7	74114664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192181	74114664	85023999	8173	15885											
GTF2I	2969	broad.mit.edu	37	chr7	74114695	74114695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctttaaacaccccgagaaCtatgatcttgcaaccctgaa	6	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:74114695C>T	ENST00000324896.4	+	5	881	c.492C>T	c.(490-492)aaC>aaT	p.N164N	GTF2I_ENST00000443166.1_Silent_p.N164N|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000434256.1_RNA|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000346152.4_Silent_p.N164N|GTF2I_ENST00000353920.4_Silent_p.N164N|GTF2I_ENST00000416070.1_Silent_p.N164N	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	164					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						ACCCCGAGAACTATGATCTTG	0.478													False	0	False	7:74114695	0	T	74114695	C	T	74114695	2	4	88	1	0	0	0	0	0	0	0	1	6914	564	20	2		2	GTF2I	7	74114695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	74114695	85023968	8174	15886											
POM121C	100101267	broad.mit.edu	37	chr7	75051253	75051253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggtaggctggatgggcGtaggcacgtgcgcaggcacg	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75051253G>A	ENST00000453279.2	-	13	3146	c.2282C>T	c.(2281-2283)aCg>aTg	p.T761M	POM121C_ENST00000257665.5_Missense_Mutation_p.T1003M	NM_001099415.1	NP_001092885	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1003	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGGATGGGCGTAGGCACGTG	0.637													False	0	False	7:75051253	0	A	75051253	G	A	75051253	3	1	88	1	0	0	0	0	1	0	0	0	12309	1145	40	1	693	1	POM121C	7	75051253	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	936558	75051253	84087410	8175	15887											
HIP1	3092	broad.mit.edu	37	chr7	75182880	75182880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatactgcttacaggcctCggtcagtgctggagatacaa	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75182880C>T	ENST00000336926.6	-	22	2193	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	HIP1_ENST00000434438.2_Missense_Mutation_p.E723K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	723					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTACAGGCCTCGGTCAGTGCT	0.562			T	PDGFRB	CMML								False	0	False	7:75182880	0	T	75182880	C	T	75182880	3	4	88	1	0	0	0	0	1	0	0	0	7161	893	31	1	986	1	HIP1	7	75182880	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131627	75182880	83955783	8176	15888											
HIP1	3092	broad.mit.edu	37	chr7	75184851	75184851	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttggcaagctggcacataGattcctaaaaatggtccagg	10	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75184851G>T	ENST00000336926.6	-	19	1858	c.1832C>A	c.(1831-1833)tCt>tAt	p.S611Y	HIP1_ENST00000434438.2_Missense_Mutation_p.S611Y	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	611					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGGCACATAGATTCCTAAAA	0.517			T	PDGFRB	CMML								False	0	False	7:75184851	0	T	75184851	G	T	75184851	3	4	88	1	0	0	0	0	1	0	0	0	7161	942	33	3	1333	3	HIP1	7	75184851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1971	75184851	83953812	8177	15889											
HIP1	3092	broad.mit.edu	37	chr7	75187529	75187529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtacttctcctttagcttgCtatatcgctgttcattggct	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75187529C>A	ENST00000336926.6	-	15	1432	c.1406G>T	c.(1405-1407)aGc>aTc	p.S469I	HIP1_ENST00000434438.2_Missense_Mutation_p.S469I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	469	pDED.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTTTAGCTTGCTATATCGCTG	0.542			T	PDGFRB	CMML								False	0	False	7:75187529	0	A	75187529	C	A	75187529	3	1	88	1	0	0	0	0	1	0	0	0	7161	797	28	3	1775	3	HIP1	7	75187529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2678	75187529	83951134	8178	15890											
HIP1	3092	broad.mit.edu	37	chr7	75221405	75221405	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcatgtcactcaattcatttCtgtatctcagagagtccttc	5	11	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75221405C>A	ENST00000336926.6	-	4	379	c.353G>T	c.(352-354)aGa>aTa	p.R118I	HIP1_ENST00000434438.2_Missense_Mutation_p.R118I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	118	ENTH.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAATTCATTTCTGTATCTCAG	0.502			T	PDGFRB	CMML								False	0	True	7:75221405	0	A	75221405	C	A	75221405	3	1	88	1	0	0	0	0	1	0	0	0	7161	913	32	3	2872	3	HIP1	7	75221405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33876	75221405	83917258	8179	15891											
CCL24	6369	broad.mit.edu	37	chr7	75441154	75441154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatatctctggacagggCccttgacagccactgccctg	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75441154C>T	ENST00000416943.1	-	4	413	c.320G>A	c.(319-321)gGc>gAc	p.G107D	CCL24_ENST00000222902.2_Missense_Mutation_p.G107D	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	107					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						CTGGACAGGGCCCTTGACAGC	0.627													False	0	True	7:75441154	0	T	75441154	C	T	75441154	3	4	88	1	0	0	0	0	1	0	0	0	2917	739	26	2	41	2	CCL24	7	75441154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219749	75441154	83697509	8180	15892											
RHBDD2	57414	broad.mit.edu	37	chr7	75511175	75511175	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggtaacctacatctttgtCtacgagaatcccatctccct	5	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75511175C>T	ENST00000006777.6	+	2	342	c.207C>T	c.(205-207)gtC>gtT	p.V69V	RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000468304.1_Intron	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	69						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						ACATCTTTGTCTACGAGAATC	0.577													False	0	False	7:75511175	0	T	75511175	C	T	75511175	2	4	88	1	0	0	0	0	0	0	0	1	13396	900	32	2		2	RHBDD2	7	75511175	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70021	75511175	83627488	8181	15893											
POR	5447	broad.mit.edu	37	chr7	75609862	75609862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgcggtgcctccctgggGactccagatccatgtatctg	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75609862G>A	ENST00000450476.1	+	1	45	c.35G>A	c.(34-36)gGa>gAa	p.G12E	POR_ENST00000394893.1_Intron|POR_ENST00000461988.1_Intron|POR_ENST00000545601.1_Intron|POR_ENST00000419840.1_Intron			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	0					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CCTCCCTGGGGACTCCAGATC	0.637													False	0	True	7:75609862	0	A	75609862	G	A	75609862	3	1	88	1	0	0	0	0	1	0	0	0	12326	1189	41	2		2	POR	7	75609862	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98687	75609862	83528801	8182	15894											
POR	5447	broad.mit.edu	37	chr7	75609877	75609877	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggactccagatccatgTatctgaaaggcagccctcca	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75609877T>C	ENST00000450476.1	+	1	60	c.50T>C	c.(49-51)gTa>gCa	p.V17A	POR_ENST00000394893.1_Intron|POR_ENST00000461988.1_Intron|POR_ENST00000545601.1_Intron|POR_ENST00000419840.1_Intron			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	0					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CAGATCCATGTATCTGAAAGG	0.637													False	0	False	7:75609877	0	C	75609877	T	C	75609877	3	2	88	1	0	0	0	0	1	0	0	0	12326	1653	57	4		4	POR	7	75609877	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15	75609877	83528786	8183	15895											
TMEM120A	83862	broad.mit.edu	37	chr7	75616720	75616720	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgggccaggttgaacaaCgtcagcgcgttaaaaagctg	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75616720C>T	ENST00000338761.4	-	0	964				TMEM120A_ENST00000493111.2_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral to membrane											GGTTGAACAACGTCAGCGCGT	0.622													False	0	False	7:75616720	0	T	75616720	C	T	75616720	1	4	88	0	1	0	0	0	0	0	0	0	16115	523	19	1		1	TMEM120A	7	75616720	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6843	75616720	83521943	8184	15896											
YWHAG	7532	broad.mit.edu	37	chr7	75959524	75959524	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaaggtttcgttcctcattCgacagtggctcattcagctc	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75959524C>T	ENST00000307630.3	-	2	336	c.114G>A	c.(112-114)tcG>tcA	p.S38S		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	38					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						GTTCCTCATTCGACAGTGGCT	0.502													False	0	False	7:75959524	0	T	75959524	C	T	75959524	2	4	88	1	0	0	0	0	0	0	0	1	17587	871	31	1		1	YWHAG	7	75959524	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	342804	75959524	83179139	8185	15897											
SRCRB4D	136853	broad.mit.edu	37	chr7	76024632	76024632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatggcagtgctgtgagcGttgggggacccaggcctagg	19	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76024632G>A	ENST00000275560.3	-	7	1231	c.884C>T	c.(883-885)aCg>aTg	p.T295M		NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	295						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TGCTGTGAGCGTTGGGGGACC	0.627													False	0	False	7:76024632	0	A	76024632	G	A	76024632	3	1	88	1	0	0	0	0	1	0	0	0	15219	1145	40	1	863	1	SRCRB4D	7	76024632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65108	76024632	83114031	8186	15898											
DTX2	113878	broad.mit.edu	37	chr7	76112048	76112048	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acccacacgcagaccaacaaGacttccagcttctgccgcag	7	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76112048G>T	ENST00000324432.5	+	5	1002	c.492G>T	c.(490-492)aaG>aaT	p.K164N	DTX2_ENST00000446600.1_Missense_Mutation_p.K73N|DTX2_ENST00000446820.2_Missense_Mutation_p.K164N|DTX2_ENST00000430490.2_Missense_Mutation_p.K164N|DTX2_ENST00000307569.8_Missense_Mutation_p.K164N|DTX2_ENST00000413936.2_Missense_Mutation_p.K164N	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	164	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGACCAACAAGACTTCCAGCT	0.647													False	0	False	7:76112048	0	T	76112048	G	T	76112048	3	4	88	1	0	0	0	0	1	0	0	0	4824	933	33	3	498	3	DTX2	7	76112048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87416	76112048	83026615	8187	15899											
DTX2	113878	broad.mit.edu	37	chr7	76131738	76131738	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagccatgccttccacctgCtgtgcctcctggccatgtac	9	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76131738C>A	ENST00000324432.5	+	9	1864	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	DTX2_ENST00000446600.1_Missense_Mutation_p.L361M|DTX2_ENST00000446820.2_Missense_Mutation_p.L405M|DTX2_ENST00000430490.2_Missense_Mutation_p.L452M|DTX2_ENST00000307569.8_Missense_Mutation_p.L405M|DTX2_ENST00000413936.2_Missense_Mutation_p.L452M	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	452					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CTTCCACCTGCTGTGCCTCCT	0.647													False	0	False	7:76131738	0	A	76131738	C	A	76131738	3	1	88	1	0	0	0	0	1	0	0	0	4824	796	28	3	1376	3	DTX2	7	76131738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19690	76131738	83006925	8188	15900											
DTX2	113878	broad.mit.edu	37	chr7	76131750	76131750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacctgctgtgcctcctgGccatgtactgcaacggcaat	9	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76131750G>A	ENST00000324432.5	+	9	1876	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	DTX2_ENST00000446600.1_Missense_Mutation_p.A365T|DTX2_ENST00000446820.2_Missense_Mutation_p.A409T|DTX2_ENST00000430490.2_Missense_Mutation_p.A456T|DTX2_ENST00000307569.8_Missense_Mutation_p.A409T|DTX2_ENST00000413936.2_Missense_Mutation_p.A456T	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	456					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTGCCTCCTGGCCATGTACTG	0.662													False	0	False	7:76131750	0	A	76131750	G	A	76131750	3	1	88	1	0	0	0	0	1	0	0	0	4824	1203	42	2	1388	2	DTX2	7	76131750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	76131750	83006913	8189	15901											
PTPN12	0	broad.mit.edu	37	chr7	77166902	77166902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggaaattcatccagagGgtccaggccatgaagagtcc	12	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77166902G>A	ENST00000248594.6	+	1	311	c.39G>A	c.(37-39)agG>agA	p.R13R		NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	13						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCATCCAGAGGGTCCAGGCCA	0.667													False	0	True	7:77166902	0	A	77166902	G	A	77166902	2	1	88	1	0	0	0	0	0	0	0	1	12858	1223	43	2		2	PTPN12	7	77166902	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1035152	77166902	81971761	8190	15902											
PHTF2	57157	broad.mit.edu	37	chr7	77569467	77569467	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagacttggaacaactcacaGcacattctgcttcagaactt	6	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77569467G>T	ENST00000416283.2	+	12	1612	c.1486G>T	c.(1486-1488)Gca>Tca	p.A496S	PHTF2_ENST00000307305.8_Missense_Mutation_p.A492S|PHTF2_ENST00000275575.7_Missense_Mutation_p.A492S|PHTF2_ENST00000424760.1_Missense_Mutation_p.A492S|PHTF2_ENST00000248550.7_Missense_Mutation_p.A530S|PHTF2_ENST00000422959.2_Missense_Mutation_p.A496S	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ACAACTCACAGCACATTCTGC	0.373													False	0	False	7:77569467	0	T	77569467	G	T	77569467	3	4	88	1	0	0	0	0	1	0	0	0	11932	971	34	3	1586	3	PHTF2	7	77569467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	402565	77569467	81569196	8191	15903											
MAGI2	9863	broad.mit.edu	37	chr7	77649134	77649134	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctaacgtcgtgttcccgtTtgatatcccaagttgggcct	9	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77649134T>G	ENST00000354212.4	-	22	4119	c.3866A>C	c.(3865-3867)aAa>aCa	p.K1289T	MAGI2_ENST00000419488.1_Missense_Mutation_p.K1275T|MAGI2_ENST00000522391.1_3'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1289						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGTTCCCGTTTGATATCCCA	0.622													False	0	True	7:77649134	0	G	77649134	T	G	77649134	3	3	88	1	0	0	0	0	1	0	0	0	9258	1841	64	4	505	4	MAGI2	7	77649134	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79667	77649134	81489529	8192	15904											
MAGI2	9863	broad.mit.edu	37	chr7	77756523	77756523	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggtacctggggttgTctgtagtccgacagagggta	18	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77756523T>G	ENST00000354212.4	-	19	3667	c.3414A>C	c.(3412-3414)agA>agC	p.R1138S	MAGI2_ENST00000419488.1_Missense_Mutation_p.R1124S|MAGI2_ENST00000522391.1_Missense_Mutation_p.R1138S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1138						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCTGGGGTTGTCTGTAGTCCG	0.592													False	0	False	7:77756523	0	G	77756523	T	G	77756523	3	3	88	1	0	0	0	0	1	0	0	0	9258	1664	58	4	969	4	MAGI2	7	77756523	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	107389	77756523	81382140	8193	15905											
MAGI2	9863	broad.mit.edu	37	chr7	77789563	77789563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggatacagagcctggaCttctcccgttctctgggcag	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77789563C>T	ENST00000354212.4	-	16	2877	c.2624G>A	c.(2623-2625)aGt>aAt	p.S875N	MAGI2_ENST00000419488.1_Missense_Mutation_p.S861N|MAGI2_ENST00000522391.1_Missense_Mutation_p.S875N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	875						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGAGCCTGGACTTCTCCCGTT	0.537													False	0	False	7:77789563	0	T	77789563	C	T	77789563	3	4	88	1	0	0	0	0	1	0	0	0	9258	565	20	2	1771	2	MAGI2	7	77789563	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33040	77789563	81349100	8194	15906											
MAGI2	9863	broad.mit.edu	37	chr7	77885770	77885770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtcttcaggatcaaaggGcaaagggtagccacgacaca	13	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77885770G>A	ENST00000354212.4	-	10	1790	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	MAGI2_ENST00000419488.1_Missense_Mutation_p.P513S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P350S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P513S|MAGI2_ENST00000536571.1_Missense_Mutation_p.P345S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	513						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGATCAAAGGGCAAAGGGTAG	0.488													False	0	True	7:77885770	0	A	77885770	G	A	77885770	3	1	88	1	0	0	0	0	1	0	0	0	9258	1203	42	2	2882	2	MAGI2	7	77885770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96207	77885770	81252893	8195	15907											
MAGI2	9863	broad.mit.edu	37	chr7	77973256	77973256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccttcaactgggatgcaTcccgggtgaagagtggtttt	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77973256T>C	ENST00000354212.4	-	9	1500	c.1247A>G	c.(1246-1248)gAt>gGt	p.D416G	MAGI2_ENST00000419488.1_Missense_Mutation_p.D416G|MAGI2_ENST00000535697.1_Missense_Mutation_p.D253G|MAGI2_ENST00000522391.1_Missense_Mutation_p.D416G|MAGI2_ENST00000536571.1_Missense_Mutation_p.D248G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	416						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGGGATGCATCCCGGGTGAA	0.443													False	0	True	7:77973256	0	C	77973256	T	C	77973256	3	2	88	1	0	0	0	0	1	0	0	0	9258	1435	50	4	3176	4	MAGI2	7	77973256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87486	77973256	81165407	8196	15908											
MAGI2	9863	broad.mit.edu	37	chr7	77975329	77975329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctttttgcttccaggacagGattttcaaactgtgttcttc	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77975329G>A	ENST00000354212.4	-	8	1388	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	MAGI2_ENST00000419488.1_Missense_Mutation_p.P379S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P216S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P379S|MAGI2_ENST00000536571.1_Missense_Mutation_p.P211S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	379	Interaction with DDN.|WW 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCCAGGACAGGATTTTCAAAC	0.423													False	0	True	7:77975329	0	A	77975329	G	A	77975329	3	1	88	1	0	0	0	0	1	0	0	0	9258	1174	41	2	3292	2	MAGI2	7	77975329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2073	77975329	81163334	8197	15909											
MAGI2	9863	broad.mit.edu	37	chr7	78130968	78130968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgggtctggttcctcattGtcttcaggtttagttggctt	11	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:78130968G>A	ENST00000354212.4	-	5	1144	c.891C>T	c.(889-891)gaC>gaT	p.D297D	MAGI2_ENST00000419488.1_Silent_p.D297D|MAGI2_ENST00000535697.1_Silent_p.D134D|MAGI2_ENST00000522391.1_Silent_p.D297D|MAGI2_ENST00000536571.1_Silent_p.D129D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	297						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTTCCTCATTGTCTTCAGGTT	0.488													False	0	False	7:78130968	0	A	78130968	G	A	78130968	2	1	88	1	0	0	0	0	0	0	0	1	9258	1368	48	2		2	MAGI2	7	78130968	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155639	78130968	81007695	8198	15910											
GNAI1	2770	broad.mit.edu	37	chr7	79842159	79842159	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatcaaaaagagccctcTcactatatgctatccagaat	4	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:79842159T>A	ENST00000351004.3	+	7	1221	c.848T>A	c.(847-849)cTc>cAc	p.L283H	GNAI1_ENST00000457358.2_Missense_Mutation_p.L231H	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	283					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AAGAGCCCTCTCACTATATGC	0.333													False	0	False	7:79842159	0	A	79842159	T	A	79842159	3	1	88	1	0	0	0	0	1	0	0	0	6549	1551	54	5	874	5	GNAI1	7	79842159	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1711191	79842159	79296504	8199	15911											
SEMA3C	10512	broad.mit.edu	37	chr7	80374463	80374463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatttgtccgtcacaacaGccaccatttctgaatctaaa	4	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:80374463G>A	ENST00000265361.3	-	18	2564	c.2003C>T	c.(2002-2004)gCt>gTt	p.A668V	SEMA3C_ENST00000419255.2_Missense_Mutation_p.A668V|SEMA3C_ENST00000544525.1_Missense_Mutation_p.A686V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	668					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CGTCACAACAGCCACCATTTC	0.483													False	0	False	7:80374463	0	A	80374463	G	A	80374463	3	1	88	1	0	0	0	0	1	0	0	0	14107	971	34	2	256	2	SEMA3C	7	80374463	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	532304	80374463	78764200	8200	15912											
CACNA2D1	781	broad.mit.edu	37	chr7	81964505	81964505	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatatccctggctgcaatTtctaccagctggcgtgcatt	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:81964505T>C	ENST00000356860.3	-	3	578	c.240A>G	c.(238-240)gaA>gaG	p.E80E	CACNA2D1_ENST00000423588.1_Silent_p.E80E|CACNA2D1_ENST00000356253.5_Silent_p.E80E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	80						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGGCTGCAATTTCTACCAGCT	0.343													False	0	True	7:81964505	0	C	81964505	T	C	81964505	2	2	88	1	0	0	0	0	0	0	0	1	2568	1838	64	4		4	CACNA2D1	7	81964505	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1590042	81964505	77174158	8201	15913											
PCLO	27445	broad.mit.edu	37	chr7	82453599	82453599	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcttctgcttttgataacaGatggctttggggactgctgg	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453599G>A	ENST00000333891.9	-	19	14886	c.14549C>T	c.(14548-14550)tCt>tTt	p.S4850F	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.S4850F	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGATAACAGATGGCTTTGG	0.418													False	0	False	7:82453599	0	A	82453599	G	A	82453599	3	1	88	1	0	0	0	0	1	0	0	0	11651	942	33	2	924	2	PCLO	7	82453599	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	489094	82453599	76685064	8202	15914											
PCLO	27445	broad.mit.edu	37	chr7	82453619	82453619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggctttggggactgctgGctgctctgactggaatgaga	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453619G>A	ENST00000333891.9	-	19	14866	c.14529C>T	c.(14527-14529)agC>agT	p.S4843S	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Silent_p.S4843S	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGACTGCTGGCTGCTCTGAC	0.423													False	0	True	7:82453619	0	A	82453619	G	A	82453619	2	1	88	1	0	0	0	0	0	0	0	1	11651	1194	42	2		2	PCLO	7	82453619	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	82453619	76685044	8203	15915											
PCLO	27445	broad.mit.edu	37	chr7	82544139	82544139	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgatccaaactgatccctgGtgtctgcagatattggtggc	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82544139G>T	ENST00000333891.9	-	7	13500	c.13163C>A	c.(13162-13164)aCc>aAc	p.T4388N	PCLO_ENST00000423517.2_Missense_Mutation_p.T4388N|PCLO_ENST00000437081.1_Missense_Mutation_p.T1108N	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGATCCCTGGTGTCTGCAGA	0.532													False	0	False	7:82544139	0	T	82544139	G	T	82544139	3	4	88	1	0	0	0	0	1	0	0	0	11651	1261	44	3	2358	3	PCLO	7	82544139	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90520	82544139	76594524	8204	15916											
PCLO	27445	broad.mit.edu	37	chr7	82545765	82545765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccatgctgactttctattCgggttggtcttgtgctactc	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82545765C>T	ENST00000333891.9	-	7	11874	c.11537G>A	c.(11536-11538)cGa>cAa	p.R3846Q	PCLO_ENST00000423517.2_Missense_Mutation_p.R3846Q|PCLO_ENST00000437081.1_Missense_Mutation_p.R566Q	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTTCTATTCGGGTTGGTCT	0.458													False	0	True	7:82545765	0	T	82545765	C	T	82545765	3	4	88	1	0	0	0	0	1	0	0	0	11651	884	31	1	3984	1	PCLO	7	82545765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1626	82545765	76592898	8205	15917											
PCLO	27445	broad.mit.edu	37	chr7	82583261	82583261	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgatcaaacacggtttcGgataagctactttttgttcg	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82583261G>A	ENST00000333891.9	-	5	7345	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PCLO_ENST00000423517.2_Silent_p.S2336S	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Poly-Pro.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACACGGTTTCGGATAAGCTAC	0.428													False	0	False	7:82583261	0	A	82583261	G	A	82583261	2	1	88	1	0	0	0	0	0	0	0	1	11651	1103	39	1		1	PCLO	7	82583261	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37496	82583261	76555402	8206	15918											
SEMA3A	10371	broad.mit.edu	37	chr7	83675699	83675699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggtggtgcccaagagttCggaagatagcaaagtctcgc	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:83675699C>T	ENST00000265362.4	-	6	922	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R203Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCCAAGAGTTCGGAAGATAGC	0.428													False	0	False	7:83675699	0	T	83675699	C	T	83675699	3	4	88	1	0	0	0	0	1	0	0	0	14105	884	31	1	1755	1	SEMA3A	7	83675699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1092438	83675699	75462964	8207	15919											
SEMA3D	223117	broad.mit.edu	37	chr7	84628811	84628811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgtgatgtcttcgatttCgtttcttcttcatttcctgc	6	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84628811C>T	ENST00000284136.6	-	17	2322	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	760	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.R760Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453													False	0	True	7:84628811	0	T	84628811	C	T	84628811	3	4	88	1	0	0	0	0	1	0	0	0	14108	884	31	1	58	1	SEMA3D	7	84628811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	953112	84628811	74509852	8208	15920											
SEMA3D	223117	broad.mit.edu	37	chr7	84644469	84644469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcgcaagctttcccatAagtgtcgcatctgtgcaagg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84644469A>G	ENST00000284136.6	-	14	1652	c.1609T>C	c.(1609-1611)Tat>Cat	p.Y537H	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	537	PSI.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GCTTTCCCATAAGTGTCGCAT	0.463													False	0	False	7:84644469	0	G	84644469	A	G	84644469	3	3	88	1	0	0	0	0	1	0	0	0	14108	362	13	4	740	4	SEMA3D	7	84644469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15658	84644469	74494194	8209	15921											
SEMA3D	223117	broad.mit.edu	37	chr7	84651710	84651710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctagttttagcttacctgTtccaagaaacattacatcgt	5	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84651710T>C	ENST00000284136.6	-	11	1454	c.1411A>G	c.(1411-1413)Aca>Gca	p.T471A	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	471	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGCTTACCTGTTCCAAGAAAC	0.328													False	0	False	7:84651710	0	C	84651710	T	C	84651710	3	2	88	1	0	0	0	0	1	0	0	0	14108	1725	60	4	950	4	SEMA3D	7	84651710	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7241	84651710	74486953	8210	15922											
SEMA3D	223117	broad.mit.edu	37	chr7	84651735	84651735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaacattacatcgtactgGccatcttctgcaatgacatg	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84651735G>A	ENST00000284136.6	-	11	1429	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	462	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CATCGTACTGGCCATCTTCTG	0.383													False	0	False	7:84651735	0	A	84651735	G	A	84651735	2	1	88	1	0	0	0	0	0	0	0	1	14108	1190	42	2		2	SEMA3D	7	84651735	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25	84651735	74486928	8211	15923											
SEMA3D	223117	broad.mit.edu	37	chr7	84666282	84666282	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actttccttatgagcatatgGaccattaaaaactgctctga	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84666282G>T	ENST00000284136.6	-	10	1157	c.1114C>A	c.(1114-1116)Cca>Aca	p.P372T	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	372	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAGCATATGGACCATTAAAA	0.413													False	0	False	7:84666282	0	T	84666282	G	T	84666282	3	4	88	1	0	0	0	0	1	0	0	0	14108	1174	41	3	1251	3	SEMA3D	7	84666282	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14547	84666282	74472381	8212	15924											
GRM3	0	broad.mit.edu	37	chr7	86468560	86468560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgggaagacgcctgggCcattggcccagtcaccattg	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86468560C>T	ENST00000361669.2	+	4	2829	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A449V|GRM3_ENST00000546348.1_Missense_Mutation_p.A169V|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	577					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GACGCCTGGGCCATTGGCCCA	0.498													False	0	True	7:86468560	0	T	86468560	C	T	86468560	3	4	88	1	0	0	0	0	1	0	0	0	6845	739	26	2	1740	2	GRM3	7	86468560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1802278	86468560	72670103	8213	15925											
GRM3	0	broad.mit.edu	37	chr7	86469049	86469049	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agattccagcatgttgatctCtcttacctacgatgtgatcc	7	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86469049C>T	ENST00000361669.2	+	4	3318	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.S612F|GRM3_ENST00000546348.1_Missense_Mutation_p.S332F|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	740					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATGTTGATCTCTCTTACCTAC	0.468													False	0	True	7:86469049	0	T	86469049	C	T	86469049	3	4	88	1	0	0	0	0	1	0	0	0	6845	913	32	2	2229	2	GRM3	7	86469049	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	489	86469049	72669614	8214	15926											
KIAA1324L	222223	broad.mit.edu	37	chr7	86537040	86537040	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggattacacctcattttcAcagcagttgatcggccatta	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86537040A>G	ENST00000450689.2	-	18	2689	c.2504T>C	c.(2503-2505)gTg>gCg	p.V835A	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V668A|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V595A|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V764A	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	835						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCTCATTTTCACAGCAGTTGA	0.343													False	0	False	7:86537040	0	G	86537040	A	G	86537040	3	3	88	1	0	0	0	0	1	0	0	0	8274	159	6	4	605	4	KIAA1324L	7	86537040	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67991	86537040	72601623	8215	15927											
KIAA1324L	222223	broad.mit.edu	37	chr7	86570678	86570678	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaattgttacctggtaattgCcttcaagcatttaaggagct	9	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86570678C>A	ENST00000297222.6	-	1	10	c.11G>T	c.(10-12)gGc>gTc	p.G4V	KIAA1324L_ENST00000416314.1_Intron|KIAA1324L_ENST00000450689.2_Intron|KIAA1324L_ENST00000444627.1_Intron			A8MWY0	K132L_HUMAN	KIAA1324-like	244						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ctggtaattgccttcaagcat	0.383													False	0	False	7:86570678	0	A	86570678	C	A	86570678	3	1	88	1	0	0	0	0	1	0	0	0	8274	754	26	3		3	KIAA1324L	7	86570678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33638	86570678	72567985	8216	15928											
DMTF1	9988	broad.mit.edu	37	chr7	86794362	86794362	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcattcttcactgccctcaGaatggtaggagaacttgctg	9	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86794362G>T	ENST00000394703.5	+	5	668	c.105G>T	c.(103-105)caG>caT	p.Q35H	DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000411766.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000331242.7_Missense_Mutation_p.Q35H|DMTF1_ENST00000413276.2_Missense_Mutation_p.Q35H|DMTF1_ENST00000394702.3_Missense_Mutation_p.Q35H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	35	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACTGCCCTCAGAATGGTAGGA	0.438													False	0	False	7:86794362	0	T	86794362	G	T	86794362	3	4	88	1	0	0	0	0	1	0	0	0	4622	933	33	3	107	3	DMTF1	7	86794362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	223684	86794362	72344301	8217	15929											
DMTF1	9988	broad.mit.edu	37	chr7	86817581	86817581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatctcttctagccccatgGcagcattgcagattccagtc	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86817581G>A	ENST00000414194.2	+	13	2369	c.577G>A	c.(577-579)Gca>Aca	p.A193T	DMTF1_ENST00000394703.5_Missense_Mutation_p.A459T|DMTF1_ENST00000432937.2_Missense_Mutation_p.A371T|DMTF1_ENST00000331242.7_Missense_Mutation_p.A459T|DMTF1_ENST00000413276.2_Intron			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	459	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TAGCCCCATGGCAGCATTGCA	0.423													False	0	False	7:86817581	0	A	86817581	G	A	86817581	3	1	88	1	0	0	0	0	1	0	0	0	4622	1203	42	2	1417	2	DMTF1	7	86817581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23219	86817581	72321082	8218	15930											
DMTF1	9988	broad.mit.edu	37	chr7	86823161	86823161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcccaagcagaactgacaGtcgatagtgatattcagtca	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86823161G>A	ENST00000414194.2	+	16	2765	c.973G>A	c.(973-975)Gtc>Atc	p.V325I	DMTF1_ENST00000394703.5_Missense_Mutation_p.V591I|DMTF1_ENST00000432937.2_Missense_Mutation_p.V503I|DMTF1_ENST00000331242.7_Missense_Mutation_p.V591I|DMTF1_ENST00000413276.2_Missense_Mutation_p.V521I			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	591	HTH myb-type.|Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AGAACTGACAGTCGATAGTGA	0.448													False	0	False	7:86823161	0	A	86823161	G	A	86823161	3	1	88	1	0	0	0	0	1	0	0	0	4622	1029	36	2	1825	2	DMTF1	7	86823161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5580	86823161	72315502	8219	15931											
CROT	54677	broad.mit.edu	37	chr7	87004992	87004992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgccatagtgaacctgatgGacctgggattgcagcattaa	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87004992G>T	ENST00000331536.3	+	8	886	c.701G>T	c.(700-702)gGa>gTa	p.G234V	CROT_ENST00000419147.2_Missense_Mutation_p.G262V|CROT_ENST00000442291.1_Missense_Mutation_p.G234V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	234					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAACCTGATGGACCTGGGATT	0.383													False	0	False	7:87004992	0	T	87004992	G	T	87004992	3	4	88	1	0	0	0	0	1	0	0	0	3917	1174	41	3	811	3	CROT	7	87004992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181831	87004992	72133671	8220	15932											
CROT	54677	broad.mit.edu	37	chr7	87011306	87011306	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcagaatgaaggaagatgGaaggtatgtttgaataaata	11	1	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87011306G>A	ENST00000331536.3	+	11	1244	c.1059G>A	c.(1057-1059)tgG>tgA	p.W353*	CROT_ENST00000419147.2_Nonsense_Mutation_p.W381*|CROT_ENST00000442291.1_Nonsense_Mutation_p.W353*	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	353					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AAGGAAGATGGAAGGTATGTT	0.313													False	0	False	7:87011306	0	A	87011306	G	A	87011306	4	1	88	1	0	0	0	0	0	1	0	0	3917	1183	41	2	1181	2	CROT	7	87011306	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6314	87011306	72127357	8221	15933											
ABCB4	5244	broad.mit.edu	37	chr7	87056075	87056075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacaacttacaagtccatcGgtttccacatcaaggctctt	5	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87056075G>A	ENST00000265723.4	-	16	2166	c.2055C>T	c.(2053-2055)acC>acT	p.T685T	ABCB4_ENST00000358400.3_Silent_p.T685T|ABCB4_ENST00000359206.3_Silent_p.T685T|ABCB4_ENST00000545634.1_Silent_p.T685T|ABCB4_ENST00000453593.1_Silent_p.T685T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	685					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CAAGTCCATCGGTTTCCACAT	0.353													False	0	False	7:87056075	0	A	87056075	G	A	87056075	2	1	88	1	0	0	0	0	0	0	0	1	43	1103	39	1		1	ABCB4	7	87056075	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44769	87056075	72082588	8222	15934											
ABCB1	5243	broad.mit.edu	37	chr7	87174266	87174266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttccaaggcatcaatttcaCttttggattcatcagctgca	6	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87174266C>A	ENST00000265724.3	-	17	2354	c.1937G>T	c.(1936-1938)aGt>aTt	p.S646I	ABCB1_ENST00000543898.1_Missense_Mutation_p.S582I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	646					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATCAATTTCACTTTTGGATTC	0.363													False	0	True	7:87174266	0	A	87174266	C	A	87174266	3	1	88	1	0	0	0	0	1	0	0	0	40	565	20	3	1957	3	ABCB1	7	87174266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118191	87174266	71964397	8223	15935											
ABCB1	5243	broad.mit.edu	37	chr7	87195518	87195518	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgactgaaagaacattccAattttgtcaccaattccttc	4	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87195518A>C	ENST00000265724.3	-	8	987	c.570T>G	c.(568-570)atT>atG	p.I190M	ABCB1_ENST00000543898.1_Missense_Mutation_p.I126M	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	190	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGAACATTCCAATTTTGTCAC	0.368													False	0	False	7:87195518	0	C	87195518	A	C	87195518	3	2	88	1	0	0	0	0	1	0	0	0	40	126	5	4	3360	4	ABCB1	7	87195518	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21252	87195518	71943145	8224	15936											
ADAM22	53616	broad.mit.edu	37	chr7	87780610	87780610	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgcaaaaccagagatagAcaatgcaaatacatttgggg	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87780610A>G	ENST00000398204.4	+	20	1979	c.1656A>G	c.(1654-1656)agA>agG	p.R552R	ADAM22_ENST00000398209.3_Silent_p.R552R|ADAM22_ENST00000398201.4_Silent_p.R552R|ADAM22_ENST00000315984.7_Silent_p.R552R|ADAM22_ENST00000265727.7_Silent_p.R552R	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	552	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGAGATAGACAATGCAAAT	0.403													False	0	False	7:87780610	0	G	87780610	A	G	87780610	2	3	88	1	0	0	0	0	0	0	0	1	244	272	10	4		4	ADAM22	7	87780610	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	585092	87780610	71358053	8225	15937											
SRI	6717	broad.mit.edu	37	chr7	87838718	87838718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgatctttccattggtGctgtatcgttttgcaattga	10	6	1	2	rs150714131	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87838718G>A	ENST00000265729.2	-	6	499	c.447C>T	c.(445-447)agC>agT	p.S149S	SRI_ENST00000431660.1_Silent_p.S134S|SRI_ENST00000419179.1_Silent_p.S109S|SRI_ENST00000394641.3_Silent_p.S134S|SRI_ENST00000490437.1_Silent_p.S106S	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	149	EF-hand 4.				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					TTCCATTGGTGCTGTATCGTT	0.448													False	0	False	7:87838718	0	A	87838718	G	A	87838718	2	1	88	1	0	0	0	0	0	0	0	1	15231	1310	46	2		2	SRI	7	87838718	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58108	87838718	71299945	8226	15938											
STEAP4	79689	broad.mit.edu	37	chr7	87912325	87912325	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acacacagcacagcagacaaAtagaaggggaacctccacat	8	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87912325A>C	ENST00000380079.4	-	3	716	c.615T>G	c.(613-615)taT>taG	p.Y205*	AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Nonsense_Mutation_p.Y205*|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	205					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CAGCAGACAAATAGAAGGGGA	0.388													False	0	True	7:87912325	0	C	87912325	A	C	87912325	4	2	88	1	0	0	0	0	0	1	0	0	15362	108	4	4	776	4	STEAP4	7	87912325	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73607	87912325	71226338	8227	15939											
ZNF804B	219578	broad.mit.edu	37	chr7	88963589	88963589	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagacttgtaaaagaagcAtgtacccataatgtggcatc	8	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:88963589A>G	ENST00000333190.4	+	4	1902	c.1293A>G	c.(1291-1293)gcA>gcG	p.A431A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	431						intracellular	zinc ion binding	p.A431A(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAAAGAAGCATGTACCCATA	0.388										HNSCC(36;0.09)			False	0	False	7:88963589	0	G	88963589	A	G	88963589	2	3	88	1	0	0	0	0	0	0	0	1	18253	204	8	4		4	ZNF804B	7	88963589	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1051264	88963589	70175074	8228	15940											
STEAP2	261729	broad.mit.edu	37	chr7	89861714	89861714	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaatttatggatggaaaCgagcttttgaggaagagtac	11	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89861714C>T	ENST00000287908.3	+	5	1642	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	STEAP2_ENST00000394622.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394621.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000394626.1_Nonsense_Mutation_p.R417*|STEAP2_ENST00000394629.2_Nonsense_Mutation_p.R417*|STEAP2_ENST00000402625.2_Intron	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	417					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TGGATGGAAACGAGCTTTTGA	0.363													False	0	True	7:89861714	0	T	89861714	C	T	89861714	4	4	88	1	0	0	0	0	0	1	0	0	15360	528	19	1	1263	1	STEAP2	7	89861714	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	898125	89861714	69276949	8229	15941											
STEAP2	261729	broad.mit.edu	37	chr7	89861731	89861731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgagcttttgaggaagaGtactacagattttatacacc	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89861731G>A	ENST00000287908.3	+	5	1659	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	STEAP2_ENST00000394622.2_Silent_p.E422E|STEAP2_ENST00000394621.2_Silent_p.E422E|STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000394626.1_Silent_p.E422E|STEAP2_ENST00000394629.2_Silent_p.E422E|STEAP2_ENST00000402625.2_Intron	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	422					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTGAGGAAGAGTACTACAGAT	0.388													False	0	False	7:89861731	0	A	89861731	G	A	89861731	2	1	88	1	0	0	0	0	0	0	0	1	15360	1020	36	2		2	STEAP2	7	89861731	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	89861731	69276932	8230	15942											
C7orf63	79846	broad.mit.edu	37	chr7	89915597	89915597	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taaatgttttcataccaggaAtctttaaaaatataataagc	4	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89915597A>C	ENST00000389297.4	+	14	1791	c.1540A>C	c.(1540-1542)Atc>Ctc	p.I514L	C7orf63_ENST00000497910.1_Missense_Mutation_p.I496L|C7orf63_ENST00000316089.8_Missense_Mutation_p.I514L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	514							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CATACCAGGAATCTTTAAAAA	0.299													False	0	False	7:89915597	0	C	89915597	A	C	89915597	3	2	88	1	0	0	0	0	1	0	0	0	2428	101	4	4	1594	4	C7orf63	7	89915597	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53866	89915597	69223066	8231	15943											
GTPBP10	85865	broad.mit.edu	37	chr7	89982181	89982181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaggggaggatccggtGgaatgggttatcctcgttta	14	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89982181G>A	ENST00000222511.6	+	2	151	c.85G>A	c.(85-87)Gga>Aga	p.G29R	GTPBP10_ENST00000257659.8_Missense_Mutation_p.G29R	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	29					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AGGATCCGGTGGAATGGGTTA	0.393											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	7:89982181	0	A	89982181	G	A	89982181	3	1	88	1	0	0	0	0	1	0	0	0	6926	1349	47	2	91	2	GTPBP10	7	89982181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66584	89982181	69156482	8232	15944											
CDK14	5218	broad.mit.edu	37	chr7	90741870	90741870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttaggctcagctatgtgAaccatgcagaggacctggcc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90741870A>G	ENST00000406263.1	+	12	1472	c.1030A>G	c.(1030-1032)Aac>Gac	p.N344D	CDK14_ENST00000380050.3_Missense_Mutation_p.N390D|CDK14_ENST00000436577.2_Missense_Mutation_p.N261D|CDK14_ENST00000265741.3_Missense_Mutation_p.N372D			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	390	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CAGCTATGTGAACCATGCAGA	0.443													False	0	False	7:90741870	0	G	90741870	A	G	90741870	3	3	88	1	0	0	0	0	1	0	0	0	3153	246	9	4	1160	4	CDK14	7	90741870	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	759689	90741870	68396793	8233	15945											
FZD1	8321	broad.mit.edu	37	chr7	90895309	90895309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgtggcctacatcgccGgcttcctcctggaagaccga	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895309G>A	ENST00000287934.2	+	1	1527	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	372					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTACATCGCCGGCTTCCTCCT	0.632													False	0	False	7:90895309	0	A	90895309	G	A	90895309	3	1	88	1	0	0	0	0	1	0	0	0	6170	1116	39	1	1116	1	FZD1	7	90895309	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153439	90895309	68243354	8234	15946											
FZD1	8321	broad.mit.edu	37	chr7	90895465	90895465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctggtgggtgatcctgTcgctcacctggttcctggcg	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895465T>C	ENST00000287934.2	+	1	1683	c.1270T>C	c.(1270-1272)Tcg>Ccg	p.S424P		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	424					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGTGATCCTGTCGCTCACCTG	0.607													False	0	False	7:90895465	0	C	90895465	T	C	90895465	3	2	88	1	0	0	0	0	1	0	0	0	6170	1667	58	4	1272	4	FZD1	7	90895465	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156	90895465	68243198	8235	15947											
FZD1	8321	broad.mit.edu	37	chr7	90895700	90895700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgtgtacctgtttatcgGcacgtcctttctgctggccg	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895700G>A	ENST00000287934.2	+	1	1918	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	502					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGTTTATCGGCACGTCCTTT	0.602													False	0	False	7:90895700	0	A	90895700	G	A	90895700	3	1	88	1	0	0	0	0	1	0	0	0	6170	1203	42	2	1507	2	FZD1	7	90895700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235	90895700	68242963	8236	15948											
FZD1	8321	broad.mit.edu	37	chr7	90895964	90895964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccaggcgggcggaggcgCcccgccgcacccgcccatga	14	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895964C>T	ENST00000287934.2	+	1	2182	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	590					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCGGAGGCGCCCCGCCGCAC	0.647													False	0	True	7:90895964	0	T	90895964	C	T	90895964	3	4	88	1	0	0	0	0	1	0	0	0	6170	739	26	2	1771	2	FZD1	7	90895964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264	90895964	68242699	8237	15949											
FZD1	8321	broad.mit.edu	37	chr7	90896026	90896026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgattaagtaccttatgacgCtgatcgtgggcatcacgtcg	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90896026C>A	ENST00000287934.2	+	1	2244	c.1831C>A	c.(1831-1833)Ctg>Atg	p.L611M		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	611					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCTTATGACGCTGATCGTGGG	0.617													False	0	False	7:90896026	0	A	90896026	C	A	90896026	3	1	88	1	0	0	0	0	1	0	0	0	6170	796	28	3	1833	3	FZD1	7	90896026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62	90896026	68242637	8238	15950											
AKAP9	10142	broad.mit.edu	37	chr7	91622256	91622256	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcacaagacagtccgActcatctagagatgatggaa	11	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91622256A>C	ENST00000359028.2	+	6	724	c.499A>C	c.(499-501)Act>Cct	p.T167P	AKAP9_ENST00000358100.2_Missense_Mutation_p.T167P|AKAP9_ENST00000394564.1_Missense_Mutation_p.T155P|AKAP9_ENST00000356239.3_Missense_Mutation_p.T155P			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	167					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGACAGTCCGACTCATCTAGA	0.393			T	BRAF	papillary thyroid								False	0	False	7:91622256	0	C	91622256	A	C	91622256	3	2	88	1	0	0	0	0	1	0	0	0	459	275	10	4	481	4	AKAP9	7	91622256	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	726230	91622256	67516407	8239	15951											
AKAP9	10142	broad.mit.edu	37	chr7	91631371	91631371	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtctcttgtaaattcaaagTcagaagaaatgactcttcaa	6	7	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91631371T>A	ENST00000359028.2	+	9	2401	c.2176T>A	c.(2176-2178)Tca>Aca	p.S726T	AKAP9_ENST00000358100.2_Missense_Mutation_p.S726T|AKAP9_ENST00000356239.3_Missense_Mutation_p.S714T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	726	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAATTCAAAGTCAGAAGAAAT	0.299			T	BRAF	papillary thyroid								False	0	False	7:91631371	0	A	91631371	T	A	91631371	3	1	88	1	0	0	0	0	1	0	0	0	459	1667	58	5	2170	5	AKAP9	7	91631371	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9115	91631371	67507292	8240	15952											
AKAP9	10142	broad.mit.edu	37	chr7	91631643	91631643	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agccaagaagaaagattgatTttcttagactccattaagtc	7	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91631643T>C	ENST00000359028.2	+	9	2673	c.2448T>C	c.(2446-2448)atT>atC	p.I816I	AKAP9_ENST00000358100.2_Silent_p.I816I|AKAP9_ENST00000356239.3_Silent_p.I804I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	816	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGATTGATTTTCTTAGACT	0.338			T	BRAF	papillary thyroid								False	0	True	7:91631643	0	C	91631643	T	C	91631643	2	2	88	1	0	0	0	0	0	0	0	1	459	1829	64	4		4	AKAP9	7	91631643	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	272	91631643	67507020	8241	15953											
AKAP9	10142	broad.mit.edu	37	chr7	91632019	91632019	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagcagaaacattggaaAtgggtgaggttgttgaaaag	14	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91632019A>T	ENST00000359028.2	+	9	3049	c.2824A>T	c.(2824-2826)Atg>Ttg	p.M942L	AKAP9_ENST00000358100.2_Missense_Mutation_p.M942L|AKAP9_ENST00000356239.3_Missense_Mutation_p.M930L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	942	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACATTGGAAATGGGTGAGGT	0.363			T	BRAF	papillary thyroid								False	0	True	7:91632019	0	T	91632019	A	T	91632019	3	4	88	1	0	0	0	0	1	0	0	0	459	101	4	5	2818	5	AKAP9	7	91632019	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	376	91632019	67506644	8242	15954											
AKAP9	10142	broad.mit.edu	37	chr7	91643633	91643633	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgaagaatgttcttaTtttttacaggtaaaatgttt	8	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91643633T>C	ENST00000359028.2	+	11	3864	c.3639T>C	c.(3637-3639)taT>taC	p.Y1213Y	AKAP9_ENST00000358100.2_Silent_p.Y1213Y|AKAP9_ENST00000356239.3_Silent_p.Y1201Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1213					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGTTCTTATTTTTTACAGG	0.373			T	BRAF	papillary thyroid								False	0	True	7:91643633	0	C	91643633	T	C	91643633	2	2	88	1	0	0	0	0	0	0	0	1	459	1500	52	4		4	AKAP9	7	91643633	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11614	91643633	67495030	8243	15955											
AKAP9	10142	broad.mit.edu	37	chr7	91660882	91660882	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgttaagttgcttgaaaaAcaataccaagaacaattaga	6	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91660882A>G	ENST00000359028.2	+	17	4563	c.4338A>G	c.(4336-4338)aaA>aaG	p.K1446K	AKAP9_ENST00000358100.2_Silent_p.K1446K|AKAP9_ENST00000356239.3_Silent_p.K1434K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1446					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.K1434K(1)|p.K1446K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCTTGAAAAACAATACCAAG	0.294			T	BRAF	papillary thyroid								False	0	True	7:91660882	0	G	91660882	A	G	91660882	2	3	88	1	0	0	0	0	0	0	0	1	459	40	2	4		4	AKAP9	7	91660882	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17249	91660882	67477781	8244	15956											
AKAP9	10142	broad.mit.edu	37	chr7	91668085	91668085	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacatttatagttagacagtCtgtaagtatgcctccttgaa	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91668085C>A	ENST00000359028.2	+	18	4952	c.4727C>A	c.(4726-4728)tCt>tAt	p.S1576Y	AKAP9_ENST00000358100.2_Splice_Site_p.S1576Y|AKAP9_ENST00000356239.3_Splice_Site_p.S1564Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1576					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTAGACAGTCTGTAAGTATG	0.313			T	BRAF	papillary thyroid								False	0	False	7:91668085	0	A	91668085	C	A	91668085	5	1	88	1	0	0	0	0	0	0	1	0	459	927	32	3	4757	3	AKAP9	7	91668085	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7203	91668085	67470578	8245	15957											
AKAP9	10142	broad.mit.edu	37	chr7	91690610	91690610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacacagacagagttgatgCgtgagtcatttagacagaaa	11	6	1	7			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91690610C>T	ENST00000359028.2	+	24	5899	c.5674C>T	c.(5674-5676)Cgt>Tgt	p.R1892C	AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1892C|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1880C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1892	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAGTTGATGCGTGAGTCATT	0.428			T	BRAF	papillary thyroid								False	0	False	7:91690610	0	T	91690610	C	T	91690610	3	4	88	1	0	0	0	0	1	0	0	0	459	768	27	1	5728	1	AKAP9	7	91690610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22525	91690610	67448053	8246	15958											
AKAP9	10142	broad.mit.edu	37	chr7	91699387	91699387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagaaaaaacagacaaatGcagtgagcttttgctctcta	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91699387G>A	ENST00000359028.2	+	28	6635	c.6410G>A	c.(6409-6411)tGc>tAc	p.C2137Y	AKAP9_ENST00000358100.2_Missense_Mutation_p.C2137Y|AKAP9_ENST00000356239.3_Missense_Mutation_p.C2125Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2137	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGACAAATGCAGTGAGCTT	0.338			T	BRAF	papillary thyroid								False	0	False	7:91699387	0	A	91699387	G	A	91699387	3	1	88	1	0	0	0	0	1	0	0	0	459	1319	46	2	6480	2	AKAP9	7	91699387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8777	91699387	67439276	8247	15959											
AKAP9	10142	broad.mit.edu	37	chr7	91709392	91709392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctagaactacagaagCtattggagggcaatgagaaa	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91709392C>T	ENST00000359028.2	+	32	8206	c.7981C>T	c.(7981-7983)Cta>Tta	p.L2661L	AKAP9_ENST00000358100.2_Silent_p.L2661L|AKAP9_ENST00000356239.3_Silent_p.L2649L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2661	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTACAGAAGCTATTGGAGGG	0.308			T	BRAF	papillary thyroid								False	0	False	7:91709392	0	T	91709392	C	T	91709392	2	4	88	1	0	0	0	0	0	0	0	1	459	796	28	2		2	AKAP9	7	91709392	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10005	91709392	67429271	8248	15960											
AKAP9	10142	broad.mit.edu	37	chr7	91714146	91714146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttagattctggatcagaCtggggtcagggaatttatct	11	5	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91714146C>T	ENST00000359028.2	+	35	8961	c.8736C>T	c.(8734-8736)gaC>gaT	p.D2912D	AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Silent_p.D2908D			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2912					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGGATCAGACTGGGGTCAGG	0.353			T	BRAF	papillary thyroid								False	0	False	7:91714146	0	T	91714146	C	T	91714146	2	4	88	1	0	0	0	0	0	0	0	1	459	564	20	2		2	AKAP9	7	91714146	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4754	91714146	67424517	8249	15961											
AKAP9	10142	broad.mit.edu	37	chr7	91735055	91735055	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttccatcaatattaacagAgatggctttggactgaatca	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91735055A>G	ENST00000359028.2	+	47	11631	c.11406A>G	c.(11404-11406)agA>agG	p.R3802R	AKAP9_ENST00000358100.2_Silent_p.R3748R|AKAP9_ENST00000356239.3_Silent_p.R3798R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3802					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATATTAACAGAGATGGCTTTG	0.393			T	BRAF	papillary thyroid								False	0	False	7:91735055	0	G	91735055	A	G	91735055	2	3	88	1	0	0	0	0	0	0	0	1	459	301	11	4		4	AKAP9	7	91735055	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20909	91735055	67403608	8250	15962											
KRIT1	889	broad.mit.edu	37	chr7	91863867	91863867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaatctccttcacaggcGcttcggtggagaggaaaatc	11	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91863867G>A	ENST00000394507.1	-	11	1668	c.885C>T	c.(883-885)agC>agT	p.S295S	KRIT1_ENST00000412043.2_Silent_p.S295S|KRIT1_ENST00000394503.2_Intron|KRIT1_ENST00000394505.2_Silent_p.S295S|KRIT1_ENST00000340022.2_Silent_p.S295S	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	295					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCACAGGCGCTTCGGTGGA	0.383													False	0	False	7:91863867	0	A	91863867	G	A	91863867	2	1	88	1	0	0	0	0	0	0	0	1	8495	1078	38	1		1	KRIT1	7	91863867	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128812	91863867	67274796	8251	15963											
KRIT1	889	broad.mit.edu	37	chr7	91870376	91870376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatccaatatgccttgtgTtatttcactgttgccttgaa	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91870376T>C	ENST00000394507.1	-	6	976	c.193A>G	c.(193-195)Aca>Gca	p.T65A	KRIT1_ENST00000412043.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394503.2_Missense_Mutation_p.T65A|KRIT1_ENST00000394505.2_Missense_Mutation_p.T65A|KRIT1_ENST00000340022.2_Missense_Mutation_p.T65A	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	65					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGCCTTGTGTTATTTCACTG	0.353													False	0	False	7:91870376	0	C	91870376	T	C	91870376	3	2	88	1	0	0	0	0	1	0	0	0	8495	1725	60	4	2077	4	KRIT1	7	91870376	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6509	91870376	67268287	8252	15964											
ANKIB1	54467	broad.mit.edu	37	chr7	92027712	92027712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagaaatacagatagccctCgggctgcattgagcagctct	10	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92027712C>T	ENST00000265742.3	+	20	3095	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	907							protein binding|zinc ion binding	p.R907W(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGATAGCCCTCGGGCTGCATT	0.493													False	0	True	7:92027712	0	T	92027712	C	T	92027712	3	4	88	1	0	0	0	0	1	0	0	0	630	875	31	1	2793	1	ANKIB1	7	92027712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157336	92027712	67110951	8253	15965											
ANKIB1	54467	broad.mit.edu	37	chr7	92027950	92027950	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgaaccctcagagtattgCcctgattcctccagcaacta	6	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92027950C>A	ENST00000265742.3	+	20	3333	c.2957C>A	c.(2956-2958)gCc>gAc	p.A986D		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	986							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGAGTATTGCCCTGATTCCT	0.498													False	0	True	7:92027950	0	A	92027950	C	A	92027950	3	1	88	1	0	0	0	0	1	0	0	0	630	739	26	3	3031	3	ANKIB1	7	92027950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238	92027950	67110713	8254	15966											
PEX1	5189	broad.mit.edu	37	chr7	92119135	92119135	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtgaagctgtccttaAcactggaggctgtgaaaaca	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92119135A>G	ENST00000248633.4	-	22	3624	c.3529T>C	c.(3529-3531)Tta>Cta	p.L1177L	PEX1_ENST00000438045.1_Silent_p.L855L|PEX1_ENST00000428214.1_Silent_p.L1120L|AC007566.10_ENST00000427458.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1177					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCTGTCCTTAACACTGGAGGC	0.473													False	0	False	7:92119135	0	G	92119135	A	G	92119135	2	3	88	1	0	0	0	0	0	0	0	1	11804	40	2	4		4	PEX1	7	92119135	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91185	92119135	67019528	8255	15967											
PEX1	5189	broad.mit.edu	37	chr7	92122335	92122335	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attgtaaagtaaagctttcaGatcagctccagtaaaggagt	9	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92122335G>A	ENST00000248633.4	-	20	3234	c.3139C>T	c.(3139-3141)Ctg>Ttg	p.L1047L	PEX1_ENST00000438045.1_Silent_p.L725L|PEX1_ENST00000428214.1_Silent_p.L990L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1047					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAAGCTTTCAGATCAGCTCCA	0.423													False	0	False	7:92122335	0	A	92122335	G	A	92122335	2	1	88	1	0	0	0	0	0	0	0	1	11804	933	33	2		2	PEX1	7	92122335	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3200	92122335	67016328	8256	15968											
PEX1	5189	broad.mit.edu	37	chr7	92135622	92135622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgtcaaatgcttcttTacagattgctttggctaaag	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92135622T>C	ENST00000248633.4	-	11	1935	c.1840A>G	c.(1840-1842)Aaa>Gaa	p.K614E	PEX1_ENST00000438045.1_Missense_Mutation_p.K292E|PEX1_ENST00000428214.1_Missense_Mutation_p.K614E|PEX1_ENST00000541751.1_Missense_Mutation_p.K31E	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	614					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AATGCTTCTTTACAGATTGCT	0.353													False	0	True	7:92135622	0	C	92135622	T	C	92135622	3	2	88	1	0	0	0	0	1	0	0	0	11804	1763	61	4	2067	4	PEX1	7	92135622	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13287	92135622	67003041	8257	15969											
PEX1	5189	broad.mit.edu	37	chr7	92138680	92138680	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaaaaaggaagaataaagtCaatttcctcactgttttctt	5	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92138680C>T	ENST00000248633.4	-	9	1728	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	PEX1_ENST00000438045.1_Missense_Mutation_p.D223N|PEX1_ENST00000428214.1_Missense_Mutation_p.D545N|PEX1_ENST00000541751.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	545					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGAATAAAGTCAATTTCCTCA	0.343													False	0	False	7:92138680	0	T	92138680	C	T	92138680	3	4	88	1	0	0	0	0	1	0	0	0	11804	826	29	2	2282	2	PEX1	7	92138680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3058	92138680	66999983	8258	15970											
SAMD9	54809	broad.mit.edu	37	chr7	92730814	92730814	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaacaattgttttcagctcGaccttgtaaacgaagcaaaa	6	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92730814G>A	ENST00000379958.2	-	3	4866	c.4597C>T	c.(4597-4599)Cga>Tga	p.R1533*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1533						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCAGCTCGACCTTGTAAA	0.383													False	0	False	7:92730814	0	A	92730814	G	A	92730814	4	1	88	1	0	0	0	0	0	1	0	0	13905	1066	37	1	176	1	SAMD9	7	92730814	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	592134	92730814	66407849	8259	15971											
SAMD9	54809	broad.mit.edu	37	chr7	92732478	92732478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatgatgcgtactccacagTagttcccacattcgatgacc	8	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92732478T>C	ENST00000379958.2	-	3	3202	c.2933A>G	c.(2932-2934)tAc>tGc	p.Y978C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	978						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TACTCCACAGTAGTTCCCACA	0.393													False	0	False	7:92732478	0	C	92732478	T	C	92732478	3	2	88	1	0	0	0	0	1	0	0	0	13905	1638	57	4	1840	4	SAMD9	7	92732478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1664	92732478	66406185	8260	15972											
SAMD9	54809	broad.mit.edu	37	chr7	92732941	92732941	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccagaggtttttcatatcGaatgtactttttagctatag	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92732941G>A	ENST00000379958.2	-	3	2739	c.2470C>T	c.(2470-2472)Cga>Tga	p.R824*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	824						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCATATCGAATGTACTTT	0.353													False	0	False	7:92732941	0	A	92732941	G	A	92732941	4	1	88	1	0	0	0	0	0	1	0	0	13905	1066	37	1	2303	1	SAMD9	7	92732941	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	463	92732941	66405722	8261	15973											
SAMD9	54809	broad.mit.edu	37	chr7	92734599	92734599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgatggtcttcaaaaTacttgtttatcatcagattg	8	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734599T>C	ENST00000379958.2	-	3	1081	c.812A>G	c.(811-813)tAt>tGt	p.Y271C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	271						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTCTTCAAAATACTTGTTTAT	0.388													False	0	True	7:92734599	0	C	92734599	T	C	92734599	3	2	88	1	0	0	0	0	1	0	0	0	13905	1406	49	4	3961	4	SAMD9	7	92734599	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1658	92734599	66404064	8262	15974											
SAMD9	54809	broad.mit.edu	37	chr7	92734864	92734864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcctggtcctgtttcagGctgtagactaaaatccaact	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734864G>A	ENST00000379958.2	-	3	816	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	183						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTGTTTCAGGCTGTAGACTA	0.388													False	0	False	7:92734864	0	A	92734864	G	A	92734864	3	1	88	1	0	0	0	0	1	0	0	0	13905	1203	42	2	4226	2	SAMD9	7	92734864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	265	92734864	66403799	8263	15975											
SAMD9	54809	broad.mit.edu	37	chr7	92734899	92734899	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaacttgtaacgatatggaTtactgaattcatcaaatgga	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734899T>A	ENST00000379958.2	-	3	781	c.512A>T	c.(511-513)aAt>aTt	p.N171I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	171						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACGATATGGATTACTGAATTC	0.363													False	0	False	7:92734899	0	A	92734899	T	A	92734899	3	1	88	1	0	0	0	0	1	0	0	0	13905	1493	52	5	4261	5	SAMD9	7	92734899	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35	92734899	66403764	8264	15976											
SAMD9	54809	broad.mit.edu	37	chr7	92735170	92735170	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttagatgtctgaatcgaatCttcaatggctgttttccgca	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92735170C>T	ENST00000379958.2	-	3	510	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	81						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAATCGAATCTTCAATGGCT	0.373													False	0	True	7:92735170	0	T	92735170	C	T	92735170	3	4	88	1	0	0	0	0	1	0	0	0	13905	913	32	2	4532	2	SAMD9	7	92735170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271	92735170	66403493	8265	15977											
SAMD9L	219285	broad.mit.edu	37	chr7	92760879	92760879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagtgtgcttgcctgcttgGacctgcacatgcgcttgtac	11	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92760879G>A	ENST00000318238.4	-	5	5622	c.4406C>T	c.(4405-4407)tCc>tTc	p.S1469F	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1469F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1469F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1469										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCCTGCTTGGACCTGCACAT	0.398													False	0	False	7:92760879	0	A	92760879	G	A	92760879	3	1	88	1	0	0	0	0	1	0	0	0	13906	1174	41	2	352	2	SAMD9L	7	92760879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25709	92760879	66377784	8266	15978											
SAMD9L	219285	broad.mit.edu	37	chr7	92761865	92761865	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaacagtaatgctcctacaGtttttgttcccatccaacca	4	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92761865G>T	ENST00000318238.4	-	5	4636	c.3420C>A	c.(3418-3420)aaC>aaA	p.N1140K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N1140K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N1140K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1140								p.N1140N(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTCCTACAGTTTTTGTTCC	0.383													False	0	True	7:92761865	0	T	92761865	G	T	92761865	3	4	88	1	0	0	0	0	1	0	0	0	13906	1020	36	3	1338	3	SAMD9L	7	92761865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	986	92761865	66376798	8267	15979											
SAMD9L	219285	broad.mit.edu	37	chr7	92762815	92762815	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatatcgcaaatccttttCtgctaaaacggaatggatgg	8	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92762815C>A	ENST00000318238.4	-	5	3686	c.2470G>T	c.(2470-2472)Gaa>Taa	p.E824*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E824*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E824*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	824										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATCCTTTTCTGCTAAAACG	0.378													False	0	True	7:92762815	0	A	92762815	C	A	92762815	4	1	88	1	0	0	0	0	0	1	0	0	13906	922	32	3	2288	3	SAMD9L	7	92762815	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	950	92762815	66375848	8268	15980											
SAMD9L	219285	broad.mit.edu	37	chr7	92762927	92762927	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatggctctttgccctataGgtgaccagattgatcacttg	10	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92762927G>T	ENST00000318238.4	-	5	3574	c.2358C>A	c.(2356-2358)acC>acA	p.T786T	SAMD9L_ENST00000411955.1_Silent_p.T786T|SAMD9L_ENST00000437805.1_Silent_p.T786T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	786										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGCCCTATAGGTGACCAGAT	0.378													False	0	False	7:92762927	0	T	92762927	G	T	92762927	2	4	88	1	0	0	0	0	0	0	0	1	13906	987	35	3		3	SAMD9L	7	92762927	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112	92762927	66375736	8269	15981											
SAMD9L	219285	broad.mit.edu	37	chr7	92763168	92763168	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccttttaacaaaatctgaaGaatagttttcagaagaaaaa	5	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92763168G>T	ENST00000318238.4	-	5	3333	c.2117C>A	c.(2116-2118)tCt>tAt	p.S706Y	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S706Y|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S706Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	706										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAATCTGAAGAATAGTTTTC	0.323													False	0	False	7:92763168	0	T	92763168	G	T	92763168	3	4	88	1	0	0	0	0	1	0	0	0	13906	942	33	3	2641	3	SAMD9L	7	92763168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241	92763168	66375495	8270	15982											
HEPACAM2	253012	broad.mit.edu	37	chr7	92838007	92838007	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tactttctcagatgcaacttCtaagcgaggcccatgcttaa	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92838007C>A	ENST00000394468.2	-	4	975	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.E288*|HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.E288*|HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.E323*	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	300	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GATGCAACTTCTAAGCGAGGC	0.433													False	0	False	7:92838007	0	A	92838007	C	A	92838007	4	1	88	1	0	0	0	0	0	1	0	0	7100	922	32	3	518	3	HEPACAM2	7	92838007	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74839	92838007	66300656	8271	15983											
CCDC132	55610	broad.mit.edu	37	chr7	92963455	92963455	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaactggactcggccttagTagtagtagactaagaacaac	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92963455T>C	ENST00000544910.1	+	23	2134	c.1914T>C	c.(1912-1914)agT>agC	p.S638S	CCDC132_ENST00000535481.1_Silent_p.S388S|CCDC132_ENST00000541136.1_Silent_p.S479S|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000305866.5_Silent_p.S668S	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	668										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCGGCCTTAGTAGTAGTAGAC	0.313													False	0	True	7:92963455	0	C	92963455	T	C	92963455	2	2	88	1	0	0	0	0	0	0	0	1	2787	1635	57	4		4	CCDC132	7	92963455	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	125448	92963455	66175208	8272	15984											
CCDC132	55610	broad.mit.edu	37	chr7	92983071	92983071	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctaatcgaactattgtagaAgggtaagtttttcatgaaag	10	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92983071A>C	ENST00000544910.1	+	27	2713	c.2493A>C	c.(2491-2493)gaA>gaC	p.E831D	CCDC132_ENST00000535481.1_Missense_Mutation_p.E581D|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.E861D	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	861										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTATTGTAGAAGGGTAAGTTT	0.323													False	0	True	7:92983071	0	C	92983071	A	C	92983071	3	2	88	1	0	0	0	0	1	0	0	0	2787	69	3	4	2727	4	CCDC132	7	92983071	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19616	92983071	66155592	8273	15985											
CALCR	799	broad.mit.edu	37	chr7	93106930	93106930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggacaatactccagccgGtgtgtcatcccagcacagcc	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:93106930G>A	ENST00000359558.2	-	6	609	c.310C>T	c.(310-312)Ccg>Tcg	p.P104S	CALCR_ENST00000421592.1_Missense_Mutation_p.P86S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S|CALCR_ENST00000360249.4_Missense_Mutation_p.P86S|CALCR_ENST00000394441.1_Missense_Mutation_p.P86S	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	86					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ACTCCAGCCGGTGTGTCATCC	0.418													False	0	True	7:93106930	0	A	93106930	G	A	93106930	3	1	88	1	0	0	0	0	1	0	0	0	2599	1261	44	2	1260	2	CALCR	7	93106930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123859	93106930	66031733	8274	15986											
COL1A2	1278	broad.mit.edu	37	chr7	94038695	94038695	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccggtccccgtggtgaagTgggtcttccaggcctctccg	14	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94038695T>C	ENST00000297268.6	+	17	1325	c.854T>C	c.(853-855)gTg>gCg	p.V285A		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	285					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CGTGGTGAAGTGGGTCTTCCA	0.493										HNSCC(75;0.22)			False	0	True	7:94038695	0	C	94038695	T	C	94038695	3	2	88	1	0	0	0	0	1	0	0	0	3701	1696	59	4	920	4	COL1A2	7	94038695	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	931765	94038695	65099968	8275	15987											
COL1A2	1278	broad.mit.edu	37	chr7	94052429	94052429	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggagaggctggtactgCtgtaagtgatttccaactcc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94052429C>T	ENST00000297268.6	+	40	3035	c.2564C>T	c.(2563-2565)gCt>gTt	p.A855V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	855			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCTGGTACTGCTGTAAGTGAT	0.473										HNSCC(75;0.22)			False	0	False	7:94052429	0	T	94052429	C	T	94052429	5	4	88	1	0	0	0	0	0	0	1	0	3701	811	28	2	2722	2	COL1A2	7	94052429	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13734	94052429	65086234	8276	15988											
COL1A2	1278	broad.mit.edu	37	chr7	94054952	94054952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaacgatggtcccccaggtCgcgatggtcaacccggacac	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94054952C>T	ENST00000297268.6	+	43	3283	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	938					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCCCCAGGTCGCGATGGTCA	0.483										HNSCC(75;0.22)			False	0	False	7:94054952	0	T	94054952	C	T	94054952	3	4	88	1	0	0	0	0	1	0	0	0	3701	884	31	1	2982	1	COL1A2	7	94054952	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2523	94054952	65083711	8277	15989											
CASD1	64921	broad.mit.edu	37	chr7	94180661	94180661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttttcaggtagttttccaCggaatgctgtttgcttttat	8	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94180661C>T	ENST00000297273.4	+	15	2114	c.1827C>T	c.(1825-1827)caC>caT	p.H609H		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	609						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TAGTTTTCCACGGAATGCTGT	0.299													False	0	False	7:94180661	0	T	94180661	C	T	94180661	2	4	88	1	0	0	0	0	0	0	0	1	2684	535	19	1		1	CASD1	7	94180661	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125709	94180661	64958002	8278	15990											
CASD1	64921	broad.mit.edu	37	chr7	94184895	94184895	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctatgctcaacatcattgTcagcactttcatatttgttt	4	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94184895T>C	ENST00000297273.4	+	18	2506	c.2219T>C	c.(2218-2220)gTc>gCc	p.V740A		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	740						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AACATCATTGTCAGCACTTTC	0.388													False	0	False	7:94184895	0	C	94184895	T	C	94184895	3	2	88	1	0	0	0	0	1	0	0	0	2684	1667	58	4	2289	4	CASD1	7	94184895	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4234	94184895	64953768	8279	15991											
SGCE	8910	broad.mit.edu	37	chr7	94228093	94228093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggacacttactgctgcGtttgcatcaatggcatgttt	10	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94228093G>A	ENST00000415788.2	-	10	1442	c.1355C>T	c.(1354-1356)aCg>aTg	p.T452M	SGCE_ENST00000445866.2_Missense_Mutation_p.T416M|SGCE_ENST00000437425.2_Missense_Mutation_p.T375M|SGCE_ENST00000265735.7_Missense_Mutation_p.T416M|SGCE_ENST00000447873.1_Missense_Mutation_p.T407M|SGCE_ENST00000428696.2_Missense_Mutation_p.T407M			O43556	SGCE_HUMAN	sarcoglycan, epsilon	416					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTACTGCTGCGTTTGCATCAA	0.398													False	0	True	7:94228093	0	A	94228093	G	A	94228093	3	1	88	1	0	0	0	0	1	0	0	0	14283	1145	40	1	230	1	SGCE	7	94228093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43198	94228093	64910570	8280	15992											
SGCE	8910	broad.mit.edu	37	chr7	94257604	94257604	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctttggatatatcgaagCcatccaggtcggtctgggta	12	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94257604C>T	ENST00000415788.2	-	4	495	c.408G>A	c.(406-408)tgG>tgA	p.W136*	SGCE_ENST00000445866.2_Nonsense_Mutation_p.W100*|SGCE_ENST00000437425.2_Nonsense_Mutation_p.W59*|SGCE_ENST00000265735.7_Nonsense_Mutation_p.W100*|SGCE_ENST00000447873.1_Nonsense_Mutation_p.W100*|SGCE_ENST00000428696.2_Nonsense_Mutation_p.W100*			O43556	SGCE_HUMAN	sarcoglycan, epsilon	100					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TATATCGAAGCCATCCAGGTC	0.393													False	0	False	7:94257604	0	T	94257604	C	T	94257604	4	4	88	1	0	0	0	0	0	1	0	0	14283	740	26	2	1201	2	SGCE	7	94257604	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29511	94257604	64881059	8281	15993											
PEG10	23089	broad.mit.edu	37	chr7	94293496	94293496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccagtaccacgagggcCtcagcgaccacattcaggag	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94293496C>T	ENST00000482108.1	+	2	1107	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	PEG10_ENST00000488574.1_Missense_Mutation_p.L210F	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	210	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCACGAGGGCCTCAGCGACCA	0.572													False	0	False	7:94293496	0	T	94293496	C	T	94293496	3	4	88	1	0	0	0	0	1	0	0	0	11787	681	24	2	862	2	PEG10	7	94293496	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35892	94293496	64845167	8282	15994											
PPP1R9A	55607	broad.mit.edu	37	chr7	94879459	94879459	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctactggattgaggcccaaaCattatgccacacagtgaatg	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94879459C>A	ENST00000289495.5	+	8	2438	c.2222C>A	c.(2221-2223)aCa>aAa	p.T741K	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T763K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T741K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T741K|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T741K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T741K	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	741	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGGCCCAAACATTATGCCAC	0.393										HNSCC(28;0.073)			False	0	True	7:94879459	0	A	94879459	C	A	94879459	3	1	88	1	0	0	0	0	1	0	0	0	12452	478	17	3	2322	3	PPP1R9A	7	94879459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	585963	94879459	64259204	8283	15995											
PPP1R9A	55607	broad.mit.edu	37	chr7	94903217	94903217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtatatcctagatgatgCcaaagatcccaaatcactaa	6	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94903217C>A	ENST00000289495.5	+	13	3227	c.3011C>A	c.(3010-3012)gCc>gAc	p.A1004D	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.A1044D|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.A1022D|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.A1022D	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	789	Interacts with TGN38 (By similarity).|SAM.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTAGATGATGCCAAAGATCCC	0.383										HNSCC(28;0.073)			False	0	False	7:94903217	0	A	94903217	C	A	94903217	3	1	88	1	0	0	0	0	1	0	0	0	12452	739	26	3	3185	3	PPP1R9A	7	94903217	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23758	94903217	64235446	8284	15996											
PON1	5444	broad.mit.edu	37	chr7	94940825	94940825	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatttttcttcttcttgaaaTttaaacaactccactgtgga	5	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94940825T>G	ENST00000222381.3	-	5	666	c.435A>C	c.(433-435)aaA>aaC	p.K145N	PON1_ENST00000542556.1_Missense_Mutation_p.K145N	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	145					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CTTCTTGAAATTTAAACAACT	0.358													False	0	True	7:94940825	0	G	94940825	T	G	94940825	3	3	88	1	0	0	0	0	1	0	0	0	12317	1490	52	4	652	4	PON1	7	94940825	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37608	94940825	64197838	8285	15997											
PON2	5445	broad.mit.edu	37	chr7	95034793	95034793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatagaatgttctggatgCggagaacctattcaggggat	13	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95034793C>T	ENST00000536183.1	-	9	1160	c.977G>A	c.(976-978)cGc>cAc	p.R326H	PON2_ENST00000433091.2_Missense_Mutation_p.R293H|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000222572.3_Missense_Mutation_p.R305H	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	305					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GTTCTGGATGCGGAGAACCTA	0.433													False	0	False	7:95034793	0	T	95034793	C	T	95034793	3	4	88	1	0	0	0	0	1	0	0	0	12318	768	27	1	154	1	PON2	7	95034793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93968	95034793	64103870	8286	15998											
ASB4	51666	broad.mit.edu	37	chr7	95157228	95157228	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccttctacgtggaacaCggggccatagtggacagcgt	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95157228C>T	ENST00000325885.5	+	3	662	c.591C>T	c.(589-591)caC>caT	p.H197H	ASB4_ENST00000428113.1_Silent_p.H197H	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	197					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ACGTGGAACACGGGGCCATAG	0.607											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	7:95157228	0	T	95157228	C	T	95157228	2	4	88	1	0	0	0	0	0	0	0	1	1029	535	19	1		1	ASB4	7	95157228	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122435	95157228	63981435	8287	15999											
ASB4	51666	broad.mit.edu	37	chr7	95157465	95157465	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgctggaagctggcgcCgaagccaatctcatggatat	12	9	1	1	rs146416403	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95157465C>T	ENST00000325885.5	+	3	899	c.828C>T	c.(826-828)gcC>gcT	p.A276A	ASB4_ENST00000428113.1_Silent_p.A276A	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	276					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AAGCTGGCGCCGAAGCCAATC	0.577											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	7:95157465	0	T	95157465	C	T	95157465	2	4	88	1	0	0	0	0	0	0	0	1	1029	639	23	1		1	ASB4	7	95157465	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	237	95157465	63981198	8288	16000											
PDK4	5166	broad.mit.edu	37	chr7	95218952	95218952	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attattgtgaagtatcatacCttaaatagttcaaagagcat	6	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95218952C>A	ENST00000005178.5	-	7	968	c.771G>T	c.(769-771)aaG>aaT	p.K257N		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	257	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			AGTATCATACCTTAAATAGTT	0.294													False	0	False	7:95218952	0	A	95218952	C	A	95218952	5	1	88	1	0	0	0	0	0	0	1	0	11746	695	24	3	484	3	PDK4	7	95218952	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61487	95218952	63919711	8289	16001											
DYNC1I1	1780	broad.mit.edu	37	chr7	95657489	95657489	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccttttccctgacagtcCtctgtgatgtcggtctgctt	8	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95657489C>A	ENST00000324972.6	+	11	1216	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S	DYNC1I1_ENST00000437599.1_Silent_p.S321S|DYNC1I1_ENST00000447467.2_Silent_p.S324S|DYNC1I1_ENST00000359388.4_Silent_p.S304S|DYNC1I1_ENST00000457059.1_Silent_p.S324S|DYNC1I1_ENST00000537881.1_Silent_p.S304S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	341					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCTGACAGTCCTCTGTGATGT	0.478													False	0	False	7:95657489	0	A	95657489	C	A	95657489	2	1	88	1	0	0	0	0	0	0	0	1	4872	668	24	3		3	DYNC1I1	7	95657489	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	438537	95657489	63481174	8290	16002											
SHFM1	7979	broad.mit.edu	37	chr7	96324145	96324145	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatcctctacattgtcAtcatcccaattatcctccca	2	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96324145A>G	ENST00000248566.2	-	2	262	c.135T>C	c.(133-135)gaT>gaC	p.D45D	SHFM1_ENST00000444799.1_Silent_p.D45D|SHFM1_ENST00000413065.1_Silent_p.D45D|SHFM1_ENST00000417009.1_Silent_p.D45D	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	45	Asp/Glu-rich (highly acidic).				proteolysis	proteasome complex	peptidase activity|protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					CTACATTGTCATCATCCCAAT	0.333								Homologous recombination					False	0	False	7:96324145	0	G	96324145	A	G	96324145	2	3	88	1	0	0	0	0	0	0	0	1	14359	214	8	4		4	SHFM1	7	96324145	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	666656	96324145	62814518	8291	16003											
DLX6	1750	broad.mit.edu	37	chr7	96639182	96639182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtaatcctcatgagagCgaccccctccagggctcggc	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96639182C>T	ENST00000518156.2	+	3	1135	c.705C>T	c.(703-705)agC>agT	p.S235S	DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000555308.1_Silent_p.S107S|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Silent_p.S207S|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	117					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTCATGAGAGCGACCCCCTCC	0.567													False	0	False	7:96639182	0	T	96639182	C	T	96639182	2	4	88	1	0	0	0	0	0	0	0	1	4605	767	27	1		1	DLX6	7	96639182	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315037	96639182	62499481	8292	16004											
DLX6	1750	broad.mit.edu	37	chr7	96639212	96639212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggctcggcggccctgtcGccacgctcgccagcgctgcc	14	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96639212G>A	ENST00000518156.2	+	3	1165	c.735G>A	c.(733-735)tcG>tcA	p.S245S	DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000555308.1_Silent_p.S117S|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Silent_p.S217S|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	127					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGGCCCTGTCGCCACGCTCGC	0.577													False	0	False	7:96639212	0	A	96639212	G	A	96639212	2	1	88	1	0	0	0	0	0	0	0	1	4605	1074	38	1		1	DLX6	7	96639212	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	96639212	62499451	8293	16005											
ASNS	440	broad.mit.edu	37	chr7	97486013	97486013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccttacctactgaagcaCgaactgttgtaatgtcataa	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97486013C>T	ENST00000175506.4	-	9	1547	c.1019G>A	c.(1018-1020)cGt>cAt	p.R340H	ASNS_ENST00000455086.1_Missense_Mutation_p.R257H|ASNS_ENST00000394308.3_Missense_Mutation_p.R340H|ASNS_ENST00000437628.1_Missense_Mutation_p.R257H|ASNS_ENST00000422745.1_Missense_Mutation_p.R319H|ASNS_ENST00000444334.1_Missense_Mutation_p.R319H|ASNS_ENST00000394309.3_Missense_Mutation_p.R340H	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	340	Asparagine synthetase.			TYDITTVRASV -> LMTLQQFVLRI (in Ref. 8; AAA36781).	cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TACTGAAGCACGAACTGTTGT	0.303													False	0	False	7:97486013	0	T	97486013	C	T	97486013	3	4	88	1	0	0	0	0	1	0	0	0	1052	536	19	1	690	1	ASNS	7	97486013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	846801	97486013	61652650	8294	16006											
ASNS	440	broad.mit.edu	37	chr7	97498296	97498296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcactcgaattggctgcattCcaaacagcgggtcaactacc	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97498296C>T	ENST00000175506.4	-	4	701	c.173G>A	c.(172-174)gGa>gAa	p.G58E	ASNS_ENST00000455086.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.G58E|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000422745.1_Missense_Mutation_p.G37E|ASNS_ENST00000444334.1_Missense_Mutation_p.G37E|ASNS_ENST00000394309.3_Missense_Mutation_p.G58E	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	58	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGGCTGCATTCCAAACAGCGG	0.453													False	0	False	7:97498296	0	T	97498296	C	T	97498296	3	4	88	1	0	0	0	0	1	0	0	0	1052	855	30	2	1556	2	ASNS	7	97498296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12283	97498296	61640367	8295	16007											
ASNS	440	broad.mit.edu	37	chr7	97498323	97498323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggtcaactaccgccaacCggtgaaatccaaagcagcag	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97498323C>T	ENST00000175506.4	-	4	674	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	ASNS_ENST00000455086.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.R49Q|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000422745.1_Missense_Mutation_p.R28Q|ASNS_ENST00000444334.1_Missense_Mutation_p.R28Q|ASNS_ENST00000394309.3_Missense_Mutation_p.R49Q	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	49	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TACCGCCAACCGGTGAAATCC	0.448													False	0	False	7:97498323	0	T	97498323	C	T	97498323	3	4	88	1	0	0	0	0	1	0	0	0	1052	652	23	1	1583	1	ASNS	7	97498323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	97498323	61640340	8296	16008											
LMTK2	22853	broad.mit.edu	37	chr7	97821008	97821008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggctgctgacttacctgCggctgcagagccagcgggac	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97821008C>T	ENST00000297293.5	+	11	1524	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	411					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GACTTACCTGCGGCTGCAGAG	0.537													False	0	False	7:97821008	0	T	97821008	C	T	97821008	3	4	88	1	0	0	0	0	1	0	0	0	8912	759	27	1	1273	1	LMTK2	7	97821008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	322685	97821008	61317655	8297	16009											
LMTK2	22853	broad.mit.edu	37	chr7	97821797	97821797	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccactttaagttccagtttgGataaccccaaagagtcagtc	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97821797G>T	ENST00000297293.5	+	11	2313	c.2020G>T	c.(2020-2022)Gat>Tat	p.D674Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	674					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTCCAGTTTGGATAACCCCAA	0.408													False	0	False	7:97821797	0	T	97821797	G	T	97821797	3	4	88	1	0	0	0	0	1	0	0	0	8912	1174	41	3	2062	3	LMTK2	7	97821797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	789	97821797	61316866	8298	16010											
LMTK2	22853	broad.mit.edu	37	chr7	97822802	97822802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtggatgtccacgaagcgCtactggactctttaggatct	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97822802C>A	ENST00000297293.5	+	11	3318	c.3025C>A	c.(3025-3027)Cta>Ata	p.L1009I		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1009					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCACGAAGCGCTACTGGACTC	0.587													False	0	False	7:97822802	0	A	97822802	C	A	97822802	3	1	88	1	0	0	0	0	1	0	0	0	8912	796	28	3	3067	3	LMTK2	7	97822802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1005	97822802	61315861	8299	16011											
LMTK2	22853	broad.mit.edu	37	chr7	97823014	97823014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtcatctcagatgccggCgatggtcacagaggcacaga	12	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823014C>T	ENST00000297293.5	+	11	3530	c.3237C>T	c.(3235-3237)ggC>ggT	p.G1079G		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1079					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGATGCCGGCGATGGTCACA	0.617													False	0	False	7:97823014	0	T	97823014	C	T	97823014	2	4	88	1	0	0	0	0	0	0	0	1	8912	755	27	1		1	LMTK2	7	97823014	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212	97823014	61315649	8300	16012											
LMTK2	22853	broad.mit.edu	37	chr7	97823515	97823515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattctgcgctggacaagtcCctgtccagccactccgaggg	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823515C>T	ENST00000297293.5	+	11	4031	c.3738C>T	c.(3736-3738)tcC>tcT	p.S1246S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1246					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGGACAAGTCCCTGTCCAGCC	0.602													False	0	True	7:97823515	0	T	97823515	C	T	97823515	2	4	88	1	0	0	0	0	0	0	0	1	8912	610	22	2		2	LMTK2	7	97823515	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	501	97823515	61315148	8301	16013											
LMTK2	22853	broad.mit.edu	37	chr7	97823692	97823692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggccttcaacctgcatagCctcagctccgagtcggagga	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823692C>T	ENST00000297293.5	+	11	4208	c.3915C>T	c.(3913-3915)agC>agT	p.S1305S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1305					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACCTGCATAGCCTCAGCTCCG	0.632													False	0	False	7:97823692	0	T	97823692	C	T	97823692	2	4	88	1	0	0	0	0	0	0	0	1	8912	738	26	2		2	LMTK2	7	97823692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177	97823692	61314971	8302	16014											
LMTK2	22853	broad.mit.edu	37	chr7	97832996	97832996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcaggtgcatcaactcCgaaagctccaccgacgaaga	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97832996C>T	ENST00000297293.5	+	12	4511	c.4218C>T	c.(4216-4218)tcC>tcT	p.S1406S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1406					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCATCAACTCCGAAAGCTCCA	0.532													False	0	False	7:97832996	0	T	97832996	C	T	97832996	2	4	88	1	0	0	0	0	0	0	0	1	8912	639	23	1		1	LMTK2	7	97832996	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9304	97832996	61305667	8303	16015											
BHLHA15	168620	broad.mit.edu	37	chr7	97842100	97842100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagcagcagcaggtggCtgggggtgcgttgggggcca	20	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97842100C>A	ENST00000609256.1	+	2	605	c.479C>A	c.(478-480)gCt>gAt	p.A160D	BHLHA15_ENST00000314018.2_Missense_Mutation_p.A160D			Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CAGCAGGTGGCTGGGGGTGCG	0.697													False	0	False	7:97842100	0	A	97842100	C	A	97842100	3	1	88	1	0	0	0	0	1	0	0	0	1424	797	28	3	481	3	BHLHA15	7	97842100	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9104	97842100	61296563	8304	16016											
TECPR1	25851	broad.mit.edu	37	chr7	97858364	97858364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaccttggaagcagccGcctccatagccgcctgtgta	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97858364G>A	ENST00000447648.2	-	16	2696	c.2397C>T	c.(2395-2397)ggC>ggT	p.G799G	TECPR1_ENST00000542604.1_Silent_p.G729G|TECPR1_ENST00000379795.3_Silent_p.G800G			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	799						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAAGCAGCCGCCTCCATAGC	0.687													False	0	False	7:97858364	0	A	97858364	G	A	97858364	2	1	88	1	0	0	0	0	0	0	0	1	15825	1074	38	1		1	TECPR1	7	97858364	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16264	97858364	61280299	8305	16017											
TECPR1	25851	broad.mit.edu	37	chr7	97872882	97872882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggggtcgggcagctccTtggggtcatccttcgagggg	18	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97872882T>C	ENST00000447648.2	-	6	853	c.554A>G	c.(553-555)aAg>aGg	p.K185R	TECPR1_ENST00000542604.1_Missense_Mutation_p.K106R|TECPR1_ENST00000379795.3_Missense_Mutation_p.K185R			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	185						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGCAGCTCCTTGGGGTCATC	0.647													False	0	False	7:97872882	0	C	97872882	T	C	97872882	3	2	88	1	0	0	0	0	1	0	0	0	15825	1609	56	4	3027	4	TECPR1	7	97872882	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14518	97872882	61265781	8306	16018											
TRRAP	8295	broad.mit.edu	37	chr7	98497112	98497112	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgcccattattgttgtttTaatgtatcaggtatgtgtat	8	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98497112T>C	ENST00000359863.4	+	9	910	c.701T>C	c.(700-702)tTa>tCa	p.L234S	TRRAP_ENST00000446306.3_Missense_Mutation_p.L234S|TRRAP_ENST00000355540.3_Missense_Mutation_p.L234S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	234					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATTGTTGTTTTAATGTATCAG	0.413													False	0	True	7:98497112	0	C	98497112	T	C	98497112	3	2	88	1	0	0	0	0	1	0	0	0	16684	1764	61	4	731	4	TRRAP	7	98497112	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	624230	98497112	60641551	8307	16019											
TRRAP	8295	broad.mit.edu	37	chr7	98522833	98522833	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatgcttcctggtggccatGatgagcctggaggacaacaa	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98522833G>A	ENST00000359863.4	+	22	3131	c.2922G>A	c.(2920-2922)atG>atA	p.M974I	TRRAP_ENST00000446306.3_Missense_Mutation_p.M973I|TRRAP_ENST00000355540.3_Missense_Mutation_p.M974I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	974					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGGCCATGATGAGCCTGG	0.557													False	0	False	7:98522833	0	A	98522833	G	A	98522833	3	1	88	1	0	0	0	0	1	0	0	0	16684	1290	45	2	3004	2	TRRAP	7	98522833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25721	98522833	60615830	8308	16020											
TRRAP	8295	broad.mit.edu	37	chr7	98527811	98527811	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgatgttgcaagtatcatCctgggctccaaggagagggt	13	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98527811C>T	ENST00000359863.4	+	24	3584	c.3375C>T	c.(3373-3375)atC>atT	p.I1125I	TRRAP_ENST00000446306.3_Silent_p.I1124I|TRRAP_ENST00000355540.3_Silent_p.I1125I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1125					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAGTATCATCCTGGGCTCCA	0.448													False	0	False	7:98527811	0	T	98527811	C	T	98527811	2	4	88	1	0	0	0	0	0	0	0	1	16684	845	30	2		2	TRRAP	7	98527811	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4978	98527811	60610852	8309	16021											
TRRAP	8295	broad.mit.edu	37	chr7	98535413	98535413	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaggctcttcccaaattcCttcaatgataaattttgtga	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98535413C>T	ENST00000359863.4	+	30	4583	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S	TRRAP_ENST00000446306.3_Silent_p.S1457S|TRRAP_ENST00000355540.3_Silent_p.S1458S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1458					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAATTCCTTCAATGATA	0.368													False	0	False	7:98535413	0	T	98535413	C	T	98535413	2	4	88	1	0	0	0	0	0	0	0	1	16684	668	24	2		2	TRRAP	7	98535413	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7602	98535413	60603250	8310	16022											
TRRAP	8295	broad.mit.edu	37	chr7	98535441	98535441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaattttgtgatcagatgAtggtaagccaaatgcattta	8	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98535441A>G	ENST00000359863.4	+	30	4611	c.4402A>G	c.(4402-4404)Atg>Gtg	p.M1468V	TRRAP_ENST00000446306.3_Missense_Mutation_p.M1467V|TRRAP_ENST00000355540.3_Missense_Mutation_p.M1468V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1468					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGATCAGATGATGGTAAGCCA	0.393													False	0	False	7:98535441	0	G	98535441	A	G	98535441	3	3	88	1	0	0	0	0	1	0	0	0	16684	333	12	4	4516	4	TRRAP	7	98535441	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28	98535441	60603222	8311	16023											
TRRAP	8295	broad.mit.edu	37	chr7	98547755	98547756	+	Frame_Shift_Ins	INS	-	-	C													actggtcgttttctctgcaaINScatgacattcttaaaagagt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98547755_98547756insC	ENST00000446306.3	+	35	5187_5188	c.5126_5127insC	c.(5125-5130)aacatgfs	p.M1710fs	TRRAP_ENST00000359863.4_Frame_Shift_Ins_p.M1729fs|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.M1711fs			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1729					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTTCTCTGCAACATGACATTCT	0.431													False	1	False	7:98547755	0	C	98547756	-	C	98547755	7	5	88	1	0	1	1	0	0	0	0	0	16684	43	2	0	5267	0	TRRAP	7	98547755	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	12314	98547755	60590908	8312	16024	196	2									
TRRAP	8295	broad.mit.edu	37	chr7	98547757	98547758	+	Frame_Shift_Ins	INS	-	-	ATCTGAC													tggtcgttttctctgcaacaINStgacattcttaaaagagtat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98547757_98547758insATCTGAC	ENST00000446306.3	+	35	5189_5190	c.5128_5129insATCTGAC	c.(5128-5130)atgfs	p.M1710fs	TRRAP_ENST00000359863.4_Frame_Shift_Ins_p.M1729fs|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.M1711fs			Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1729					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTCTGCAACATGACATTCTTA	0.436													False	0	False	7:98547757	0	ATCTGAC	98547758	-	ATCTGAC	98547757	7	5	88	1	0	1	1	0	0	0	0	0	16684	217	8	0	5269	0	TRRAP	7	98547757	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	2	98547757	60590906	8313	16025	196	2									
TRRAP	8295	broad.mit.edu	37	chr7	98550854	98550854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatctacctgctgcagtacgCcacgctgctggtggagcacg	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98550854C>A	ENST00000359863.4	+	39	5716	c.5507C>A	c.(5506-5508)gCc>gAc	p.A1836D	TRRAP_ENST00000446306.3_Missense_Mutation_p.A1817D|TRRAP_ENST00000355540.3_Missense_Mutation_p.A1818D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1836					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCAGTACGCCACGCTGCTG	0.622													False	0	False	7:98550854	0	A	98550854	C	A	98550854	3	1	88	1	0	0	0	0	1	0	0	0	16684	739	26	3	5599	3	TRRAP	7	98550854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3097	98550854	60587809	8314	16026											
TRRAP	8295	broad.mit.edu	37	chr7	98552800	98552800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggccattctgaccccggCggtgccggccaggatggagg	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98552800C>T	ENST00000359863.4	+	40	5998	c.5789C>T	c.(5788-5790)gCg>gTg	p.A1930V	TRRAP_ENST00000446306.3_Missense_Mutation_p.A1911V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A1912V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1930					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGACCCCGGCGGTGCCGGCC	0.592													False	0	False	7:98552800	0	T	98552800	C	T	98552800	3	4	88	1	0	0	0	0	1	0	0	0	16684	768	27	1	5885	1	TRRAP	7	98552800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1946	98552800	60585863	8315	16027											
TRRAP	8295	broad.mit.edu	37	chr7	98552885	98552885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggggcacaccgtcccGcagctggtccacattctgca	13	14	1	0	rs143014711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98552885G>A	ENST00000359863.4	+	40	6083	c.5874G>A	c.(5872-5874)ccG>ccA	p.P1958P	TRRAP_ENST00000446306.3_Silent_p.P1939P|TRRAP_ENST00000355540.3_Silent_p.P1940P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1958					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACACCGTCCCGCAGCTGGTCC	0.627													False	0	True	7:98552885	0	A	98552885	G	A	98552885	2	1	88	1	0	0	0	0	0	0	0	1	16684	1074	38	1		1	TRRAP	7	98552885	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85	98552885	60585778	8316	16028											
TRRAP	8295	broad.mit.edu	37	chr7	98562313	98562313	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctacatagacaggctgatCtccgtctttatgcgctccct	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98562313C>T	ENST00000359863.4	+	47	7079	c.6870C>T	c.(6868-6870)atC>atT	p.I2290I	TRRAP_ENST00000446306.3_Silent_p.I2271I|TRRAP_ENST00000355540.3_Silent_p.I2272I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2290	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAGGCTGATCTCCGTCTTTA	0.512													False	0	False	7:98562313	0	T	98562313	C	T	98562313	2	4	88	1	0	0	0	0	0	0	0	1	16684	903	32	2		2	TRRAP	7	98562313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9428	98562313	60576350	8317	16029											
TRRAP	8295	broad.mit.edu	37	chr7	98565232	98565232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttgacaactccatgaaaCgtcgtgtctacgagcgcttg	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98565232C>T	ENST00000359863.4	+	50	7611	c.7402C>T	c.(7402-7404)Cgt>Tgt	p.R2468C	TRRAP_ENST00000446306.3_Missense_Mutation_p.R2450C|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2450C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2468					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCATGAAACGTCGTGTCTA	0.532													False	0	True	7:98565232	0	T	98565232	C	T	98565232	3	4	88	1	0	0	0	0	1	0	0	0	16684	536	19	1	7538	1	TRRAP	7	98565232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2919	98565232	60573431	8318	16030											
TRRAP	8295	broad.mit.edu	37	chr7	98588118	98588118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgacaaaaacacttTggcagatgccgtcgacaagt	10	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98588118T>C	ENST00000359863.4	+	63	9853	c.9644T>C	c.(9643-9645)tTg>tCg	p.L3215S	TRRAP_ENST00000446306.3_Missense_Mutation_p.L3186S|TRRAP_ENST00000355540.3_Missense_Mutation_p.L3186S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3215	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAAAACACTTTGGCAGATGCC	0.507													False	0	True	7:98588118	0	C	98588118	T	C	98588118	3	2	88	1	0	0	0	0	1	0	0	0	16684	1821	63	4	9799	4	TRRAP	7	98588118	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22886	98588118	60550545	8319	16031											
TRRAP	8295	broad.mit.edu	37	chr7	98592299	98592299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgatgctaaaatcaccccCcacactctcaattttgtgaa	4	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98592299C>T	ENST00000359863.4	+	66	10304	c.10095C>T	c.(10093-10095)ccC>ccT	p.P3365P	TRRAP_ENST00000446306.3_Silent_p.P3354P|TRRAP_ENST00000355540.3_Silent_p.P3336P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3365					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATCACCCCCCACACTCTCA	0.532													False	0	True	7:98592299	0	T	98592299	C	T	98592299	2	4	88	1	0	0	0	0	0	0	0	1	16684	610	22	2		2	TRRAP	7	98592299	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4181	98592299	60546364	8320	16032											
TRRAP	8295	broad.mit.edu	37	chr7	98592415	98592415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtctctggcccggcgggCgcaggccactgcacaagacc	14	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98592415C>T	ENST00000359863.4	+	66	10420	c.10211C>T	c.(10210-10212)gCg>gTg	p.A3404V	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3393V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3375V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3404					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCGGCGGGCGCAGGCCACT	0.572													False	0	True	7:98592415	0	T	98592415	C	T	98592415	3	4	88	1	0	0	0	0	1	0	0	0	16684	768	27	1	10378	1	TRRAP	7	98592415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	98592415	60546248	8321	16033											
ARPC1A	10552	broad.mit.edu	37	chr7	98946483	98946483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctctcataggtgggtgaGcaagcacattaaaaagccga	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98946483G>A	ENST00000432884.2	+	7	721	c.260G>A	c.(259-261)aGc>aAc	p.S87N	ARPC1A_ENST00000262942.5_Missense_Mutation_p.S134N			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	134					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			AGGTGGGTGAGCAAGCACATT	0.463													False	0	True	7:98946483	0	A	98946483	G	A	98946483	3	1	88	1	0	0	0	0	1	0	0	0	973	971	34	2	415	2	ARPC1A	7	98946483	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	354068	98946483	60192180	8322	16034											
CPSF4	10898	broad.mit.edu	37	chr7	99047943	99047943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttcctgcacatcgaccccGagtccaagatcaaggactgt	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99047943G>A	ENST00000436336.2	+	4	513	c.352G>A	c.(352-354)Gag>Aag	p.E118K	CPSF4_ENST00000441580.1_Missense_Mutation_p.E65K|ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000451876.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Missense_Mutation_p.E118K|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000471455.1_3'UTR	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	118					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CATCGACCCCGAGTCCAAGAT	0.622													False	0	True	7:99047943	0	A	99047943	G	A	99047943	3	1	88	1	0	0	0	0	1	0	0	0	3851	1059	37	1	366	1	CPSF4	7	99047943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101460	99047943	60090720	8323	16035											
CPSF4	10898	broad.mit.edu	37	chr7	99051675	99051675	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaatcagcagagaaccccGcaggtcatcggggtcatgca	11	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99051675G>A	ENST00000436336.2	+	7	743	c.582G>A	c.(580-582)ccG>ccA	p.P194P	CPSF4_ENST00000441580.1_Silent_p.P141P|ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000451876.1_Silent_p.P161P|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Silent_p.P219P|ATP5J2-PTCD1_ENST00000413834.1_Intron	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	219					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGAGAACCCCGCAGGTCATCG	0.557													False	0	True	7:99051675	0	A	99051675	G	A	99051675	2	1	88	1	0	0	0	0	0	0	0	1	3851	1074	38	1		1	CPSF4	7	99051675	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3732	99051675	60086988	8324	16036											
ZNF394	84124	broad.mit.edu	37	chr7	99097579	99097579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttgggctcccaacttccGggtgagtcttcctccacttt	9	13	1	1	rs142631169	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99097579G>A	ENST00000337673.6	-	1	341	c.138C>T	c.(136-138)ccC>ccT	p.P46P	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Silent_p.P46P|ZNF394_ENST00000394177.3_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	46					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCCAACTTCCGGGTGAGTCTT	0.637													False	0	True	7:99097579	0	A	99097579	G	A	99097579	2	1	88	1	0	0	0	0	0	0	0	1	17963	1103	39	1		1	ZNF394	7	99097579	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45904	99097579	60041084	8325	16037											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99103950	99103950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcctggagctgctggtgCtggagcagttcctgaccatc	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99103950C>T	ENST00000394170.2	+	2	534	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	ZKSCAN5_ENST00000326775.5_Silent_p.L95L|ZKSCAN5_ENST00000451158.1_Silent_p.L95L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	95	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCTGCTGGTGCTGGAGCAGTT	0.597													False	0	True	7:99103950	0	T	99103950	C	T	99103950	2	4	88	1	0	0	0	0	0	0	0	1	17773	796	28	2		2	ZKSCAN5	7	99103950	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6371	99103950	60034713	8326	16038											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99123455	99123455	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttatgagtccagggacaaTatggagctcatagtgaagca	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99123455T>C	ENST00000394170.2	+	6	1043	c.792T>C	c.(790-792)aaT>aaC	p.N264N	ZKSCAN5_ENST00000326775.5_Silent_p.N264N|ZKSCAN5_ENST00000451158.1_Silent_p.N264N	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	264	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCAGGGACAATATGGAGCTCA	0.423													False	0	False	7:99123455	0	C	99123455	T	C	99123455	2	2	88	1	0	0	0	0	0	0	0	1	17773	1403	49	4		4	ZKSCAN5	7	99123455	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19505	99123455	60015208	8327	16039											
FAM200A	221786	broad.mit.edu	37	chr7	99146025	99146025	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagtatcccttgattcaggAgtcattattcaggttccagg	10	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99146025A>G	ENST00000449309.1	-	2	385	c.6T>C	c.(4-6)acT>acC	p.T2T		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	2						integral to membrane	nucleic acid binding			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						TTGATTCAGGAGTCATTATTC	0.468													False	0	False	7:99146025	0	G	99146025	A	G	99146025	2	3	88	1	0	0	0	0	0	0	0	1	5572	291	11	4		4	FAM200A	7	99146025	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22570	99146025	59992638	8328	16040											
ZNF655	79027	broad.mit.edu	37	chr7	99170087	99170087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttaggcaaataacaatcaGcaaggaaaccttcaccagtg	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99170087G>A	ENST00000424881.1	+	4	681	c.461G>A	c.(460-462)aGc>aAc	p.S154N	ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.S119N|ZNF655_ENST00000493277.1_Missense_Mutation_p.S154N|ZNF655_ENST00000252713.4_Missense_Mutation_p.S119N|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	119					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATAACAATCAGCAAGGAAACC	0.388													False	0	False	7:99170087	0	A	99170087	G	A	99170087	3	1	88	1	0	0	0	0	1	0	0	0	18151	971	34	2	893	2	ZNF655	7	99170087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24062	99170087	59968576	8329	16041											
CYP3A7	1551	broad.mit.edu	37	chr7	99306847	99306847	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcaccaccatgtcaagaTactccaactgtagcacagta	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99306847T>C	ENST00000336374.2	-	11	1066	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	355					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CATGTCAAGATACTCCAACTG	0.368													False	0	False	7:99306847	0	C	99306847	T	C	99306847	3	2	88	1	0	0	0	0	1	0	0	0	4206	1406	49	4	459	4	CYP3A7	7	99306847	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	136760	99306847	59831816	8330	16042											
CYP3A7	1551	broad.mit.edu	37	chr7	99313450	99313450	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtgttttccacaaaggggtCttgtggattgttgagagagt	15	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99313450C>A	ENST00000336374.2	-	7	603	c.601G>T	c.(601-603)Gac>Tac	p.D201Y		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	201					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					ACAAAGGGGTCTTGTGGATTG	0.428													False	0	False	7:99313450	0	A	99313450	C	A	99313450	3	1	88	1	0	0	0	0	1	0	0	0	4206	913	32	3	938	3	CYP3A7	7	99313450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6603	99313450	59825213	8331	16043											
CYP3A43	64816	broad.mit.edu	37	chr7	99454485	99454485	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatttctttcaacagatgatCgactcccagaattccaaaga	6	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99454485C>T	ENST00000354829.2	+	9	931	c.828C>T	c.(826-828)atC>atT	p.I276I	CYP3A43_ENST00000417625.1_Silent_p.I166I|CYP3A43_ENST00000444905.1_Silent_p.I23I|CYP3A43_ENST00000312017.5_Silent_p.I276I|CYP3A43_ENST00000415413.1_Silent_p.I65I|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Silent_p.I276I|CYP3A43_ENST00000342499.4_Silent_p.I136I	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	276			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AACAGATGATCGACTCCCAGA	0.433													False	0	False	7:99454485	0	T	99454485	C	T	99454485	2	4	88	1	0	0	0	0	0	0	0	1	4204	874	31	1		1	CYP3A43	7	99454485	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141035	99454485	59684178	8332	16044											
OR2AE1	81392	broad.mit.edu	37	chr7	99474422	99474422	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagttggtagccatcttcaGgatgattgtggagacatgca	13	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99474422G>T	ENST00000316368.2	-	1	258	c.235C>A	c.(235-237)Ctg>Atg	p.L79M		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCCATCTTCAGGATGATTGTG	0.478													False	0	False	7:99474422	0	T	99474422	G	T	99474422	3	4	88	1	0	0	0	0	1	0	0	0	11051	991	35	3	740	3	OR2AE1	7	99474422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19937	99474422	59664241	8333	16045											
TRIM4	89122	broad.mit.edu	37	chr7	99489912	99489912	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actccgtccacagcgctgtaGaaggagacattcccagtccc	9	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99489912G>T	ENST00000355947.2	-	7	1506	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L	TRIM4_ENST00000349062.2_Missense_Mutation_p.F433L	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	459	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CAGCGCTGTAGAAGGAGACAT	0.537													False	0	False	7:99489912	0	T	99489912	G	T	99489912	3	4	88	1	0	0	0	0	1	0	0	0	16597	933	33	3	129	3	TRIM4	7	99489912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15490	99489912	59648751	8334	16046											
AZGP1	563	broad.mit.edu	37	chr7	99564826	99564826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcacatcaattttccCtgggtagaagtcgtaggcca	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99564826C>A	ENST00000292401.4	-	4	833	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	233	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCAATTTTCCCTGGGTAGAAG	0.557													False	0	True	7:99564826	0	A	99564826	C	A	99564826	3	1	88	1	0	0	0	0	1	0	0	0	1243	681	24	3	203	3	AZGP1	7	99564826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74914	99564826	59573837	8335	16047											
ZSCAN21	7589	broad.mit.edu	37	chr7	99654990	99654990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaggctgtcactctcctcGaagatctggagcgggaactg	13	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99654990G>A	ENST00000292450.4	+	2	525	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E121K|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E121K	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	121	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CACTCTCCTCGAAGATCTGGA	0.577													False	0	False	7:99654990	0	A	99654990	G	A	99654990	3	1	88	1	0	0	0	0	1	0	0	0	18315	1059	37	1	363	1	ZSCAN21	7	99654990	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90164	99654990	59483673	8336	16048											
ZNF3	7551	broad.mit.edu	37	chr7	99669413	99669413	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgaaggccttcccacactCattacattcatagggctttt	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669413C>T	ENST00000303915.6	-	5	1661	c.694G>A	c.(694-696)Gag>Aag	p.E232K	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000424697.1_Missense_Mutation_p.E232K|ZNF3_ENST00000299667.4_Missense_Mutation_p.E232K			P17036	ZNF3_HUMAN	zinc finger protein 3	232					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E232K(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTCCCACACTCATTACATTCA	0.433													False	0	False	7:99669413	0	T	99669413	C	T	99669413	3	4	88	1	0	0	0	0	1	0	0	0	17912	835	29	2	779	2	ZNF3	7	99669413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14423	99669413	59469250	8337	16049											
ZNF3	7551	broad.mit.edu	37	chr7	99669525	99669525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatggggtctgtctcccacGgggagtctctgatgtgagat	14	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669525G>A	ENST00000303915.6	-	5	1549	c.582C>T	c.(580-582)ccC>ccT	p.P194P	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000424697.1_Silent_p.P194P|ZNF3_ENST00000299667.4_Silent_p.P194P			P17036	ZNF3_HUMAN	zinc finger protein 3	194					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGTCTCCCACGGGGAGTCTCT	0.458													False	0	True	7:99669525	0	A	99669525	G	A	99669525	2	1	88	1	0	0	0	0	0	0	0	1	17912	1103	39	1		1	ZNF3	7	99669525	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112	99669525	59469138	8338	16050											
ZNF3	7551	broad.mit.edu	37	chr7	99669691	99669691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggggagttccccagcGgccttttcagactgacttct	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669691G>A	ENST00000303915.6	-	5	1383	c.416C>T	c.(415-417)cCg>cTg	p.P139L	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000424697.1_Missense_Mutation_p.P139L|ZNF3_ENST00000299667.4_Missense_Mutation_p.P139L			P17036	ZNF3_HUMAN	zinc finger protein 3	139					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			GTTCCCCAGCGGCCTTTTCAG	0.478													False	0	False	7:99669691	0	A	99669691	G	A	99669691	3	1	88	1	0	0	0	0	1	0	0	0	17912	1116	39	1	1057	1	ZNF3	7	99669691	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166	99669691	59468972	8339	16051											
COPS6	10980	broad.mit.edu	37	chr7	99688878	99688878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtggctgaacacctgataGcacagcacagcgccatcaag	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99688878G>T	ENST00000303904.3	+	8	704	c.667G>T	c.(667-669)Gca>Tca	p.A223S	COPS6_ENST00000418625.1_Missense_Mutation_p.A222S	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	223	Interaction with Vpr.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACACCTGATAGCACAGCACAG	0.577													False	0	True	7:99688878	0	T	99688878	G	T	99688878	3	4	88	1	0	0	0	0	1	0	0	0	3760	971	34	3	697	3	COPS6	7	99688878	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19187	99688878	59449785	8340	16052											
MCM7	4176	broad.mit.edu	37	chr7	99691794	99691794	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcaatttgggcacttAccagagcagtggaaaggcgc	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99691794A>T	ENST00000303887.5	-	13	2494		c.e13+1		MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Splice_Site	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TTGGGCACTTACCAGAGCAGT	0.587													False	0	False	7:99691794	0	T	99691794	A	T	99691794	5	4	88	1	0	0	0	0	0	0	1	0	9459	405	14	5	321	5	MCM7	7	99691794	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2916	99691794	59446869	8341	16053											
TAF6	6878	broad.mit.edu	37	chr7	99704934	99704934	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcttttggagtccctggagCtggagggggactgtccccag	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99704934C>A	ENST00000344095.4	-	15	2494	c.1969G>T	c.(1969-1971)Gct>Tct	p.A657S	TAF6_ENST00000452041.1_Missense_Mutation_p.A657S|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000472509.1_Missense_Mutation_p.A714S|TAF6_ENST00000418432.2_Missense_Mutation_p.A581S|TAF6_ENST00000437822.2_Missense_Mutation_p.A694S|TAF6_ENST00000453269.2_Missense_Mutation_p.A657S	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	657					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCCCTGGAGCTGGAGGGGGA	0.667													False	0	True	7:99704934	0	A	99704934	C	A	99704934	3	1	88	1	0	0	0	0	1	0	0	0	15612	797	28	3	68	3	TAF6	7	99704934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13140	99704934	59433729	8342	16054											
C7orf43	55262	broad.mit.edu	37	chr7	99754149	99754149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtcatcacaaaacacgggCggtccaagcggacactgggc	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99754149C>T	ENST00000316937.3	-	8	1285	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	C7orf43_ENST00000419841.1_Missense_Mutation_p.R135H|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Missense_Mutation_p.R98H	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	367								p.R367H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAACACGGGCGGTCCAAGCG	0.557													False	0	True	7:99754149	0	T	99754149	C	T	99754149	3	4	88	1	0	0	0	0	1	0	0	0	2412	768	27	1	658	1	C7orf43	7	99754149	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49215	99754149	59384514	8343	16055											
C7orf43	55262	broad.mit.edu	37	chr7	99754543	99754543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcctccagggcattcagCgggcaggggaagcagccaga	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99754543C>T	ENST00000316937.3	-	6	1103	c.918G>A	c.(916-918)ccG>ccA	p.P306P	C7orf43_ENST00000419841.1_Silent_p.P74P|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Silent_p.P37P	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	306										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCATTCAGCGGGCAGGGGA	0.612													False	0	True	7:99754543	0	T	99754543	C	T	99754543	2	4	88	1	0	0	0	0	0	0	0	1	2412	755	27	1		1	C7orf43	7	99754543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	394	99754543	59384120	8344	16056											
GAL3ST4	79690	broad.mit.edu	37	chr7	99758090	99758090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcagaaccaatgactcatCgaagtactcagccaccatga	7	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99758090C>T	ENST00000360039.4	-	4	1314	c.922G>A	c.(922-924)Gat>Aat	p.D308N	GAL3ST4_ENST00000411994.1_Silent_p.S206S|GAL3ST4_ENST00000423751.1_Silent_p.S206S|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.D308N|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D246N	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	308					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATGACTCATCGAAGTACTCA	0.557													False	0	False	7:99758090	0	T	99758090	C	T	99758090	3	4	88	1	0	0	0	0	1	0	0	0	6243	884	31	1	542	1	GAL3ST4	7	99758090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3547	99758090	59380573	8345	16057											
STAG3	10734	broad.mit.edu	37	chr7	99786553	99786553	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacagcctcctctatgatgGcttccctatggacgacctca	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99786553G>A	ENST00000426455.1	+	7	1036	c.629G>A	c.(628-630)gGc>gAc	p.G210D	STAG3_ENST00000394018.2_Missense_Mutation_p.G152D|STAG3_ENST00000317296.5_Missense_Mutation_p.G210D	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	210					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCTATGATGGCTTCCCTATG	0.542													False	0	False	7:99786553	0	A	99786553	G	A	99786553	3	1	88	1	0	0	0	0	1	0	0	0	15326	1203	42	2	651	2	STAG3	7	99786553	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28463	99786553	59352110	8346	16058											
STAG3	10734	broad.mit.edu	37	chr7	99811415	99811415	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggacctcttagattctacaGagctggatattgaggtgagt	12	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99811415G>A	ENST00000426455.1	+	33	4062	c.3655G>A	c.(3655-3657)Gag>Aag	p.E1219K	STAG3_ENST00000394018.2_Missense_Mutation_p.E1161K|STAG3_ENST00000317296.5_Missense_Mutation_p.E1219K|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1219					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGATTCTACAGAGCTGGATAT	0.493													False	0	False	7:99811415	0	A	99811415	G	A	99811415	3	1	88	1	0	0	0	0	1	0	0	0	15326	943	33	2	3781	2	STAG3	7	99811415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24862	99811415	59327248	8347	16059											
SPDYE3	441272	broad.mit.edu	37	chr7	99909548	99909548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgaagcgacggcgagtgtcGctcgtgctccctgagtacta	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99909548G>A	ENST00000332397.6	+	4	904	c.720G>A	c.(718-720)tcG>tcA	p.S240S	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	240										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGCGAGTGTCGCTCGTGCTCC	0.572													False	0	False	7:99909548	0	A	99909548	G	A	99909548	2	1	88	1	0	0	0	0	0	0	0	1	15112	1074	38	1		1	SPDYE3	7	99909548	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98133	99909548	59229115	8348	16060											
PILRB	29990	broad.mit.edu	37	chr7	99957138	99957138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggactgctgtgcctcctcctCctgtggtggaggagaaggaa	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99957138C>T	ENST00000448382.1	+	8	1907	c.790C>T	c.(790-792)Cct>Tct	p.P264S	PILRB_ENST00000444073.1_Silent_p.L211L|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000452089.1_Silent_p.L211L|PILRB_ENST00000610247.1_Silent_p.L211L|PILRB_ENST00000609309.1_Silent_p.L211L			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	0					activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTCCTCCTCCTGTGGTGGA	0.547													False	0	True	7:99957138	0	T	99957138	C	T	99957138	3	4	88	1	0	0	0	0	1	0	0	0	11995	855	30	2	643	2	PILRB	7	99957138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47590	99957138	59181525	8349	16061											
PILRA	29992	broad.mit.edu	37	chr7	99971341	99971341	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgccagcatttctgcagcCtagtgagtacccaggaccac	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99971341C>A	ENST00000198536.2	+	1	274	c.62C>A	c.(61-63)cCt>cAt	p.P21H	PILRA_ENST00000350573.2_Missense_Mutation_p.P21H|PILRA_ENST00000394000.2_Missense_Mutation_p.P21H|PILRA_ENST00000453419.1_Missense_Mutation_p.P21H	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	21					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTCTGCAGCCTAGTGAGTAC	0.647													False	0	False	7:99971341	0	A	99971341	C	A	99971341	3	1	88	1	0	0	0	0	1	0	0	0	11994	681	24	3	64	3	PILRA	7	99971341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14203	99971341	59167322	8350	16062											
ZCWPW1	55063	broad.mit.edu	37	chr7	100006173	100006173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccctaccaggggtaaccGtattgcttggcccagatgat	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100006173G>A	ENST00000398027.2	-	10	1225	c.978C>T	c.(976-978)taC>taT	p.Y326Y	ZCWPW1_ENST00000360951.4_Silent_p.Y327Y|ZCWPW1_ENST00000490721.1_Silent_p.Y206Y|ZCWPW1_ENST00000324725.6_Silent_p.Y206Y	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	326	PWWP.						zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGGGTAACCGTATTGCTTGG	0.498													False	0	False	7:100006173	0	A	100006173	G	A	100006173	2	1	88	1	0	0	0	0	0	0	0	1	17680	1140	40	1		1	ZCWPW1	7	100006173	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34832	100006173	59132490	8351	16063											
ZCWPW1	55063	broad.mit.edu	37	chr7	100006218	100006218	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgggatgtaggaggcataGgccacatcactctcaagccc	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100006218G>T	ENST00000398027.2	-	10	1180	c.933C>A	c.(931-933)gcC>gcA	p.A311A	ZCWPW1_ENST00000360951.4_Silent_p.A312A|ZCWPW1_ENST00000490721.1_Silent_p.A191A|ZCWPW1_ENST00000324725.6_Silent_p.A191A	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	311							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGAGGCATAGGCCACATCAC	0.502													False	0	False	7:100006218	0	T	100006218	G	T	100006218	2	4	88	1	0	0	0	0	0	0	0	1	17680	987	35	3		3	ZCWPW1	7	100006218	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	100006218	59132445	8352	16064											
ZCWPW1	55063	broad.mit.edu	37	chr7	100014052	100014052	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttcccaagacactgaAatctcttgagtatgtggtac	7	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100014052A>C	ENST00000398027.2	-	7	754	c.507T>G	c.(505-507)atT>atG	p.I169M	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.I169M|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.I48M|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.I48M	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	169							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGACACTGAAATCTCTTGAG	0.418													False	0	True	7:100014052	0	C	100014052	A	C	100014052	3	2	88	1	0	0	0	0	1	0	0	0	17680	10	1	4	1487	4	ZCWPW1	7	100014052	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7834	100014052	59124611	8353	16065											
ZCWPW1	55063	broad.mit.edu	37	chr7	100017440	100017440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttaggggagttagggctaCaaggtaacaggctgtaagat	14	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100017440C>T	ENST00000398027.2	-	4	342	c.95G>A	c.(94-96)tGt>tAt	p.C32Y	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.C32Y|ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000324725.6_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	32							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTAGGGCTACAAGGTAACAG	0.468													False	0	False	7:100017440	0	T	100017440	C	T	100017440	3	4	88	1	0	0	0	0	1	0	0	0	17680	478	17	2	1911	2	ZCWPW1	7	100017440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3388	100017440	59121223	8354	16066											
MEPCE	56257	broad.mit.edu	37	chr7	100029193	100029193	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaagggaccaccaccgttCgaaagaggagctgcttccca	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100029193C>T	ENST00000310512.2	+	1	1940	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	MEPCE_ENST00000414441.1_Nonsense_Mutation_p.R49*	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	518	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACCACCGTTCGAAAGAGGAG	0.632													False	0	False	7:100029193	0	T	100029193	C	T	100029193	4	4	88	1	0	0	0	0	0	1	0	0	9544	876	31	1	1554	1	MEPCE	7	100029193	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11753	100029193	59109470	8355	16067											
C7orf61	402573	broad.mit.edu	37	chr7	100060989	100060989	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttaggatggtgctgaccttCcagctgcacatctgccagcc	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100060989C>T	ENST00000332375.3	-	2	629	c.384G>A	c.(382-384)tgG>tgA	p.W128*	TSC22D4_ENST00000496728.1_5'UTR	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	128										central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						TGCTGACCTTCCAGCTGCACA	0.592													False	0	False	7:100060989	0	T	100060989	C	T	100060989	4	4	88	1	0	0	0	0	0	1	0	0	2427	856	30	2	244	2	C7orf61	7	100060989	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31796	100060989	59077674	8356	16068											
AGFG2	3268	broad.mit.edu	37	chr7	100161557	100161557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaccgctgttccccccGcagaccccgcttgttcagca	8	20	1	1	rs35771030	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100161557G>A	ENST00000300176.4	+	10	1394	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	424	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTTCCCCCCGCAGACCCCGC	0.602											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	7:100161557	0	A	100161557	G	A	100161557	2	1	88	1	0	0	0	0	0	0	0	1	381	1074	38	1		1	AGFG2	7	100161557	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100568	100161557	58977106	8357	16069											
LRCH4	4034	broad.mit.edu	37	chr7	100174761	100174761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccacaacagccctgaGccctggcttcaagaggctgg	10	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100174761G>A	ENST00000310300.6	-	12	1364	c.1312C>T	c.(1312-1314)Ctc>Ttc	p.L438F	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	438					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGCCCTGAGCCCTGGCTTC	0.632													False	0	True	7:100174761	0	A	100174761	G	A	100174761	3	1	88	1	0	0	0	0	1	0	0	0	8997	971	34	2	767	2	LRCH4	7	100174761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13204	100174761	58963902	8358	16070											
FBXO24	26261	broad.mit.edu	37	chr7	100187909	100187909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtggagacgcatctgtcGcagactcagtccgcgcctcc	12	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100187909G>A	ENST00000241071.6	+	3	573	c.251G>A	c.(250-252)cGc>cAc	p.R84H	FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.R84H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R72H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R122H|FBXO24_ENST00000465843.1_Missense_Mutation_p.R84H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	84						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGCATCTGTCGCAGACTCAGT	0.592													False	0	False	7:100187909	0	A	100187909	G	A	100187909	3	1	88	1	0	0	0	0	1	0	0	0	5775	1087	38	1	418	1	FBXO24	7	100187909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13148	100187909	58950754	8359	16071											
FBXO24	26261	broad.mit.edu	37	chr7	100189512	100189512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctatgttgtgttgtgtcGtggagccaaggatgtgagta	15	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100189512G>A	ENST00000241071.6	+	4	867	c.545G>A	c.(544-546)cGt>cAt	p.R182H	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.R168H|FBXO24_ENST00000468962.1_Missense_Mutation_p.R170H|FBXO24_ENST00000427939.2_Missense_Mutation_p.R220H|FBXO24_ENST00000465843.1_Missense_Mutation_p.R168H	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	182						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGTTGTGTCGTGGAGCCAAG	0.552													False	0	False	7:100189512	0	A	100189512	G	A	100189512	3	1	88	1	0	0	0	0	1	0	0	0	5775	1145	40	1	716	1	FBXO24	7	100189512	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1603	100189512	58949151	8360	16072											
FBXO24	26261	broad.mit.edu	37	chr7	100190416	100190416	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcccccagtttgcctcggAcccaaggtgtgacacagttt	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100190416A>G	ENST00000241071.6	+	5	891	c.569A>G	c.(568-570)gAc>gGc	p.D190G	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.D176G|FBXO24_ENST00000468962.1_Missense_Mutation_p.D178G|FBXO24_ENST00000427939.2_Missense_Mutation_p.D228G|FBXO24_ENST00000465843.1_Missense_Mutation_p.D176G	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	190						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTTGCCTCGGACCCAAGGTGT	0.577													False	0	True	7:100190416	0	G	100190416	A	G	100190416	3	3	88	1	0	0	0	0	1	0	0	0	5775	275	10	4	744	4	FBXO24	7	100190416	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	904	100190416	58948247	8361	16073											
FBXO24	26261	broad.mit.edu	37	chr7	100198522	100198522	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccccagcccctgagacctaAtccccctcatgctagcctag	6	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100198522A>C	ENST00000241071.6	+	10	2065	c.1743A>C	c.(1741-1743)taA>taC	p.*581Y	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_3'UTR|FBXO24_ENST00000468962.1_Nonstop_Mutation_p.*569Y|FBXO24_ENST00000427939.2_Nonstop_Mutation_p.*619Y	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	0						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTGAGACCTAATCCCCCTCAT	0.632													False	0	False	7:100198522	0	C	100198522	A	C	100198522	4	2	88	1	0	0	0	0	0	0	0	0	5775	108	4	4	1938	4	FBXO24	7	100198522	Nonstop_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8106	100198522	58940141	8362	16074											
PCOLCE	5118	broad.mit.edu	37	chr7	100201161	100201161	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcatctggaccataacGgtgagaaacccctctgggca	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100201161G>A	ENST00000223061.5	+	2	484	c.204G>A	c.(202-204)acG>acA	p.T68T	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE_ENST00000496269.1_3'UTR	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	68	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGACCATAACGGTGAGAAACC	0.592													False	0	False	7:100201161	0	A	100201161	G	A	100201161	5	1	88	1	0	0	0	0	0	0	1	0	11662	1130	39	1	210	1	PCOLCE	7	100201161	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2639	100201161	58937502	8363	16075											
MOSPD3	64598	broad.mit.edu	37	chr7	100210480	100210480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgggcgggggtcccgGggcgcccctcctcccttggg	16	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100210480G>A	ENST00000393950.2	+	1	348	c.66G>A	c.(64-66)cgG>cgA	p.R22R	MOSPD3_ENST00000379527.2_Silent_p.R22R|MOSPD3_ENST00000424091.2_Silent_p.R22R|MOSPD3_ENST00000223054.4_Silent_p.R22R	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	22						integral to membrane	structural molecule activity	p.R22R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					gggggtcccggggcgccccTC	0.731													False	0	True	7:100210480	0	A	100210480	G	A	100210480	2	1	88	1	0	0	0	0	0	0	0	1	9784	1219	43	2		2	MOSPD3	7	100210480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9319	100210480	58928183	8364	16076											
MOSPD3	64598	broad.mit.edu	37	chr7	100210841	100210841	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacagcacctgccaaatAcacggtgtttgacgcagagg	12	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100210841A>G	ENST00000393950.2	+	2	512	c.230A>G	c.(229-231)tAc>tGc	p.Y77C	MOSPD3_ENST00000379527.2_Missense_Mutation_p.Y77C|MOSPD3_ENST00000424091.2_Missense_Mutation_p.Y77C|MOSPD3_ENST00000223054.4_Missense_Mutation_p.Y77C	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	77	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTGCCAAATACACGGTGTTT	0.582													False	0	False	7:100210841	0	G	100210841	A	G	100210841	3	3	88	1	0	0	0	0	1	0	0	0	9784	391	14	4	236	4	MOSPD3	7	100210841	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	361	100210841	58927822	8365	16077											
GIGYF1	64599	broad.mit.edu	37	chr7	100284433	100284433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccctccctcctcaaagCcacatcgtgctgggagacgg	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284433C>T	ENST00000275732.5	-	7	1742	c.533G>A	c.(532-534)gGc>gAc	p.G178D	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	178										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCTCAAAGCCACATCGTGC	0.647													False	0	False	7:100284433	0	T	100284433	C	T	100284433	3	4	88	1	0	0	0	0	1	0	0	0	6422	739	26	2	2646	2	GIGYF1	7	100284433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73592	100284433	58854230	8366	16078											
GIGYF1	64599	broad.mit.edu	37	chr7	100284964	100284964	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggatttcccgggggcttcGtccaaaggccccatcgcctt	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284964G>A	ENST00000275732.5	-	5	1648	c.439C>T	c.(439-441)Cga>Tga	p.R147*	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	147										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGGGGGCTTCGTCCAAAGGCC	0.652													False	0	False	7:100284964	0	A	100284964	G	A	100284964	4	1	88	1	0	0	0	0	0	1	0	0	6422	1153	40	1	2748	1	GIGYF1	7	100284964	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	531	100284964	58853699	8367	16079											
EPO	2056	broad.mit.edu	37	chr7	100320732	100320732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagctgtacacaggggaGgcctgcaggacaggggacag	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100320732G>T	ENST00000252723.2	+	5	739	c.558G>T	c.(556-558)gaG>gaT	p.E186D		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	186					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	ACACAGGGGAGGCCTGCAGGA	0.582													False	0	False	7:100320732	0	T	100320732	G	T	100320732	3	4	88	1	0	0	0	0	1	0	0	0	5220	991	35	3	576	3	EPO	7	100320732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35768	100320732	58817931	8368	16080											
ZAN	7455	broad.mit.edu	37	chr7	100352880	100352880	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatgcccgctacgaatcCtgtgcttgtcctgcttcgtg	9	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100352880C>T	ENST00000542585.1	+	0	3304				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTACGAATCCTGTGCTTGTC	0.567													False	0	False	7:100352880	0	T	100352880	C	T	100352880	1	4	88	0	1	0	0	0	0	0	0	0	17597	668	24	2		2	ZAN	7	100352880	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32148	100352880	58785783	8369	16081											
ZAN	7455	broad.mit.edu	37	chr7	100364868	100364868	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatctcactgctcagaggCtgtaaggtcatggtgggtgt	14	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100364868C>T	ENST00000542585.1	+	0	4996				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCTCAGAGGCTGTAAGGTCA	0.607													False	0	False	7:100364868	0	T	100364868	C	T	100364868	1	4	88	0	1	0	0	0	0	0	0	0	17597	784	28	2		2	ZAN	7	100364868	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11988	100364868	58773795	8370	16082											
ZAN	7455	broad.mit.edu	37	chr7	100365518	100365518	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtgaccataaggctcaGcagcaacctcgtcctcctct	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100365518G>A	ENST00000542585.1	+	0	5073				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATAAGGCTCAGCAGCAACCTC	0.602													False	0	False	7:100365518	0	A	100365518	G	A	100365518	1	1	88	0	1	0	0	0	0	0	0	0	17597	971	34	2		2	ZAN	7	100365518	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	650	100365518	58773145	8371	16083											
ZAN	7455	broad.mit.edu	37	chr7	100369522	100369522	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccagctttgccagttgCgtgcatggtcagtgtgggac	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100369522C>T	ENST00000542585.1	+	0	5452				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTGCCAGTTGCGTGCATGGTC	0.657													False	0	False	7:100369522	0	T	100369522	C	T	100369522	1	4	88	0	1	0	0	0	0	0	0	0	17597	776	27	1		1	ZAN	7	100369522	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4004	100369522	58769141	8372	16084											
ZAN	7455	broad.mit.edu	37	chr7	100389759	100389759	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagacggtggccccagaGcccttccaagagtgagtcat	11	14	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100389759G>T	ENST00000542585.1	+	0	7846				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGGCCCCAGAGCCCTTCCAAG	0.667													False	0	True	7:100389759	0	T	100389759	G	T	100389759	1	4	88	0	1	0	0	0	0	0	0	0	17597	962	34	3		3	ZAN	7	100389759	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20237	100389759	58748904	8373	16085											
EPHB4	2050	broad.mit.edu	37	chr7	100404160	100404160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggaaggcaatggcctccGgggcagtccatcggatggga	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100404160G>A	ENST00000358173.3	-	14	2834	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	EPHB4_ENST00000360620.3_Missense_Mutation_p.P789L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	789	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.P789L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AATGGCCTCCGGGGCAGTCCA	0.577													False	0	True	7:100404160	0	A	100404160	G	A	100404160	3	1	88	1	0	0	0	0	1	0	0	0	5209	1116	39	1	613	1	EPHB4	7	100404160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14401	100404160	58734503	8374	16086											
EPHB4	2050	broad.mit.edu	37	chr7	100410515	100410515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgctcagaaactcacgccGctgccgctccgtgtagccac	9	18	2	1	rs142798266		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100410515G>A	ENST00000358173.3	-	12	2440	c.1972C>T	c.(1972-1974)Cgg>Tgg	p.R658W	EPHB4_ENST00000360620.3_Missense_Mutation_p.R658W	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	658	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AACTCACGCCGCTGCCGCTCC	0.622													False	0	True	7:100410515	0	A	100410515	G	A	100410515	3	1	88	1	0	0	0	0	1	0	0	0	5209	1086	38	1	1015	1	EPHB4	7	100410515	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6355	100410515	58728148	8375	16087											
EPHB4	2050	broad.mit.edu	37	chr7	100420043	100420043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaccacgcagctaccggCcacgggcacaaccagctccc	8	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100420043C>T	ENST00000358173.3	-	4	1126	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.A220T	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	220	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGCTACCGGCCACGGGCACA	0.662													False	0	False	7:100420043	0	T	100420043	C	T	100420043	3	4	88	1	0	0	0	0	1	0	0	0	5209	739	26	2	2361	2	EPHB4	7	100420043	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9528	100420043	58718620	8376	16088											
EPHB4	2050	broad.mit.edu	37	chr7	100420110	100420110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttcacagtcagctgggcGcactttttgtagaagaggtg	14	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100420110G>A	ENST00000358173.3	-	4	1059	c.591C>T	c.(589-591)tgC>tgT	p.C197C	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.C197C	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	197	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCAGCTGGGCGCACTTTTTGT	0.642													False	0	False	7:100420110	0	A	100420110	G	A	100420110	2	1	88	1	0	0	0	0	0	0	0	1	5209	1079	38	1		1	EPHB4	7	100420110	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	100420110	58718553	8377	16089											
EPHB4	2050	broad.mit.edu	37	chr7	100421510	100421510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcacacacttcgtaggtgCgcacgctgtgctgttcctca	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100421510C>T	ENST00000358173.3	-	3	635	c.167G>A	c.(166-168)cGc>cAc	p.R56H	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.R56H	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	56					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTCGTAGGTGCGCACGCTGTG	0.687													False	0	False	7:100421510	0	T	100421510	C	T	100421510	3	4	88	1	0	0	0	0	1	0	0	0	5209	768	27	1	2856	1	EPHB4	7	100421510	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1400	100421510	58717153	8378	16090											
TRIP6	7205	broad.mit.edu	37	chr7	100465482	100465482	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttctcttccctcaacccaGcactccagccccaccccagg	4	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100465482G>T	ENST00000200457.4	+	2	469		c.e2-1			NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6						focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTCAACCCAGCACTCCAGCC	0.632													False	0	False	7:100465482	0	T	100465482	G	T	100465482	5	4	88	1	0	0	0	0	0	0	1	0	16642	985	34	3	115	3	TRIP6	7	100465482	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43972	100465482	58673181	8379	16091											
TRIP6	7205	broad.mit.edu	37	chr7	100470363	100470363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacattggctgttacaagtgCgaggtcaggggcccccagca	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100470363C>T	ENST00000200457.4	+	8	1656	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	432	LIM zinc-binding 3.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTTACAAGTGCGAGGTCAGGG	0.577													False	0	False	7:100470363	0	T	100470363	C	T	100470363	2	4	88	1	0	0	0	0	0	0	0	1	16642	776	27	1		1	TRIP6	7	100470363	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4881	100470363	58668300	8380	16092											
TRIP6	7205	broad.mit.edu	37	chr7	100470879	100470879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttgtgcaaggcctgcagcgCctggcgcatccaggagctct	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100470879C>A	ENST00000200457.4	+	9	1745	c.1385C>A	c.(1384-1386)gCc>gAc	p.A462D		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	462	LIM zinc-binding 3.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCTGCAGCGCCTGGCGCATC	0.577													False	0	False	7:100470879	0	A	100470879	C	A	100470879	3	1	88	1	0	0	0	0	1	0	0	0	16642	739	26	3	1419	3	TRIP6	7	100470879	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	516	100470879	58667784	8381	16093											
SRRT	51593	broad.mit.edu	37	chr7	100482892	100482892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgggagaagcccaaggaCgccgcggggctggagtgcaa	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100482892C>T	ENST00000388793.4	+	10	1435	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	SRRT_ENST00000457580.2_Silent_p.D406D|SRRT_ENST00000347433.4_Silent_p.D406D|SRRT_ENST00000432932.1_Silent_p.D405D	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	406					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCCCAAGGACGCCGCGGGGC	0.592													False	0	False	7:100482892	0	T	100482892	C	T	100482892	2	4	88	1	0	0	0	0	0	0	0	1	15254	535	19	1		1	SRRT	7	100482892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12013	100482892	58655771	8382	16094											
SRRT	51593	broad.mit.edu	37	chr7	100482962	100482962	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatgcgcaacatcgcgCccaacatctcccgggccgag	9	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100482962C>A	ENST00000388793.4	+	10	1505	c.1285C>A	c.(1285-1287)Ccc>Acc	p.P429T	SRRT_ENST00000457580.2_Missense_Mutation_p.P430T|SRRT_ENST00000347433.4_Missense_Mutation_p.P430T|SRRT_ENST00000432932.1_Missense_Mutation_p.P429T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	430					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAACATCGCGCCCAACATCTC	0.642													False	0	True	7:100482962	0	A	100482962	C	A	100482962	3	1	88	1	0	0	0	0	1	0	0	0	15254	739	26	3	1322	3	SRRT	7	100482962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70	100482962	58655701	8383	16095											
ACHE	43	broad.mit.edu	37	chr7	100488797	100488797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctgcataccggtggcGctgagcaatttggggaggaa	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100488797G>A	ENST00000302913.4	-	4	1854	c.1716C>T	c.(1714-1716)agC>agT	p.S572S	ACHE_ENST00000411582.1_Silent_p.S572S|ACHE_ENST00000419336.2_Silent_p.S484S|ACHE_ENST00000428317.1_Silent_p.S572S|ACHE_ENST00000241069.5_Silent_p.S572S|ACHE_ENST00000412389.1_Silent_p.S572S	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	572					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	TACCGGTGGCGCTGAGCAATT	0.701													False	0	False	7:100488797	0	A	100488797	G	A	100488797	2	1	88	1	0	0	0	0	0	0	0	1	141	1078	38	1		1	ACHE	7	100488797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5835	100488797	58649866	8384	16096											
ACHE	43	broad.mit.edu	37	chr7	100490798	100490798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctagttacctgcaggccgtgGaagtctcccgcgttgatgag	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100490798G>T	ENST00000302913.4	-	2	1194	c.1056C>A	c.(1054-1056)ttC>ttA	p.F352L	ACHE_ENST00000411582.1_Missense_Mutation_p.F352L|ACHE_ENST00000419336.2_Missense_Mutation_p.F352L|ACHE_ENST00000428317.1_Missense_Mutation_p.F352L|ACHE_ENST00000241069.5_Missense_Mutation_p.F352L|ACHE_ENST00000412389.1_Missense_Mutation_p.F352L	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	352					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GCAGGCCGTGGAAGTCTCCCG	0.617													False	0	False	7:100490798	0	T	100490798	G	T	100490798	3	4	88	1	0	0	0	0	1	0	0	0	141	1165	41	3	939	3	ACHE	7	100490798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2001	100490798	58647865	8385	16097											
ACHE	43	broad.mit.edu	37	chr7	100491402	100491402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccactgtagaagccacccCcatagatccagacgaggaca	8	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100491402C>A	ENST00000302913.4	-	2	590	c.452G>T	c.(451-453)gGg>gTg	p.G151V	ACHE_ENST00000411582.1_Missense_Mutation_p.G151V|ACHE_ENST00000419336.2_Missense_Mutation_p.G151V|ACHE_ENST00000428317.1_Missense_Mutation_p.G151V|ACHE_ENST00000241069.5_Missense_Mutation_p.G151V|ACHE_ENST00000412389.1_Missense_Mutation_p.G151V	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	151					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GAAGCCACCCCCATAGATCCA	0.612													False	0	True	7:100491402	0	A	100491402	C	A	100491402	3	1	88	1	0	0	0	0	1	0	0	0	141	623	22	3	1543	3	ACHE	7	100491402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	604	100491402	58647261	8386	16098											
MUC17	140453	broad.mit.edu	37	chr7	100663468	100663468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaccttggtcctctcgCtcttgcccccacaagctgct	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100663468C>A	ENST00000306151.4	+	1	116	c.52C>A	c.(52-54)Ctc>Atc	p.L18I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	18						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTCCTCTCGCTCTTGCCCCC	0.662													False	0	False	7:100663468	0	A	100663468	C	A	100663468	3	1	88	1	0	0	0	0	1	0	0	0	10041	797	28	3	54	3	MUC17	7	100663468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172066	100663468	58475195	8387	16099											
MUC17	140453	broad.mit.edu	37	chr7	100676247	100676247	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cactccattaacaagtatgtCtgtcagcaccatgccggtgg	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100676247C>T	ENST00000306151.4	+	3	1614	c.1550C>T	c.(1549-1551)tCt>tTt	p.S517F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	517	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAAGTATGTCTGTCAGCACC	0.498													False	0	True	7:100676247	0	T	100676247	C	T	100676247	3	4	88	1	0	0	0	0	1	0	0	0	10041	913	32	2	1560	2	MUC17	7	100676247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12779	100676247	58462416	8388	16100											
MUC17	140453	broad.mit.edu	37	chr7	100681006	100681006	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctagtgaaggaagtcctctActaacaagtatacctctcag	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100681006A>G	ENST00000306151.4	+	3	6373	c.6309A>G	c.(6307-6309)ctA>ctG	p.L2103L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2103	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGTCCTCTACTAACAAGTA	0.498													False	0	False	7:100681006	0	G	100681006	A	G	100681006	2	3	88	1	0	0	0	0	0	0	0	1	10041	378	14	4		4	MUC17	7	100681006	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4759	100681006	58457657	8389	16101											
TRIM56	81844	broad.mit.edu	37	chr7	100730866	100730866	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgaaggcccgggcctgTggagacctgcgtgccgggaa	18	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100730866T>C	ENST00000306085.6	+	3	570	c.273T>C	c.(271-273)tgT>tgC	p.C91C		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	91					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCGGGCCTGTGGAGACCTGC	0.701													False	0	False	7:100730866	0	C	100730866	T	C	100730866	2	2	88	1	0	0	0	0	0	0	0	1	16613	1702	59	4		4	TRIM56	7	100730866	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49860	100730866	58407797	8390	16102											
TRIM56	81844	broad.mit.edu	37	chr7	100730929	100730929	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgggtggcaccagcacCggggggccggccacggcccg	19	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100730929C>T	ENST00000306085.6	+	3	633	c.336C>T	c.(334-336)acC>acT	p.T112T		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	112					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCAGCACCGGGGGGCCGG	0.726													False	0	True	7:100730929	0	T	100730929	C	T	100730929	2	4	88	1	0	0	0	0	0	0	0	1	16613	639	23	1		1	TRIM56	7	100730929	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	100730929	58407734	8391	16103											
SERPINE1	5054	broad.mit.edu	37	chr7	100777156	100777156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacatgaccaggctgccccGcctcctggttctgcccaagt	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100777156G>A	ENST00000223095.4	+	5	1038	c.881G>A	c.(880-882)cGc>cAc	p.R294H	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R279H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	294					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGGCTGCCCCGCCTCCTGGTT	0.592													False	0	True	7:100777156	0	A	100777156	G	A	100777156	3	1	88	1	0	0	0	0	1	0	0	0	14192	1087	38	1	895	1	SERPINE1	7	100777156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46227	100777156	58361507	8392	16104											
SERPINE1	5054	broad.mit.edu	37	chr7	100779051	100779051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtgaagatcgaggtgaaCgagagtggcacggtggcctc	16	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100779051C>T	ENST00000223095.4	+	7	1213	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	SERPINE1_ENST00000445463.2_Silent_p.N337N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	352					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCGAGGTGAACGAGAGTGGCA	0.582													False	0	False	7:100779051	0	T	100779051	C	T	100779051	2	4	88	1	0	0	0	0	0	0	0	1	14192	535	19	1		1	SERPINE1	7	100779051	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1895	100779051	58359612	8393	16105											
AP1S1	1174	broad.mit.edu	37	chr7	100802426	100802426	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggggggatgtccaggacacCtccaagaagagtgtgctgaa	16	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100802426C>A	ENST00000337619.5	+	4	496	c.378C>A	c.(376-378)acC>acA	p.T126T		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	126					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCAGGACACCTCCAAGAAGA	0.582													False	0	False	7:100802426	0	A	100802426	C	A	100802426	2	1	88	1	0	0	0	0	0	0	0	1	738	668	24	3		3	AP1S1	7	100802426	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23375	100802426	58336237	8394	16106											
MOGAT3	346606	broad.mit.edu	37	chr7	100842058	100842058	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacacatgatcccatgaggGtgggcgcccagcacgtagtt	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100842058G>A	ENST00000223114.4	-	4	508	c.342C>T	c.(340-342)caC>caT	p.H114H	MOGAT3_ENST00000379423.3_Silent_p.H114H|MOGAT3_ENST00000440203.2_Silent_p.H114H	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	114					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCCATGAGGGTGGGCGCCCA	0.602													False	0	True	7:100842058	0	A	100842058	G	A	100842058	2	1	88	1	0	0	0	0	0	0	0	1	9763	1252	44	2		2	MOGAT3	7	100842058	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39632	100842058	58296605	8395	16107											
MOGAT3	346606	broad.mit.edu	37	chr7	100843573	100843573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccggttccttatccactccGaacgccttccacctgcggac	7	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100843573G>A	ENST00000223114.4	-	3	396	c.230C>T	c.(229-231)tCg>tTg	p.S77L	MOGAT3_ENST00000379423.3_Missense_Mutation_p.S77L|MOGAT3_ENST00000440203.2_Missense_Mutation_p.S77L	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	77					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TATCCACTCCGAACGCCTTCC	0.567													False	0	False	7:100843573	0	A	100843573	G	A	100843573	3	1	88	1	0	0	0	0	1	0	0	0	9763	1059	37	1	815	1	MOGAT3	7	100843573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1515	100843573	58295090	8396	16108											
PLOD3	8985	broad.mit.edu	37	chr7	100859508	100859508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccgccagcccccactcGggccagcagaagctctctgc	10	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100859508G>A	ENST00000223127.3	-	4	836	c.438C>T	c.(436-438)ccC>ccT	p.P146P		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	146					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCCCCACTCGGGCCAGCAGA	0.637													False	0	True	7:100859508	0	A	100859508	G	A	100859508	2	1	88	1	0	0	0	0	0	0	0	1	12172	1103	39	1		1	PLOD3	7	100859508	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15935	100859508	58279155	8397	16109											
MYL10	93408	broad.mit.edu	37	chr7	101256954	101256954	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagtttacctcctcctcactGaagcggtctgcctgggtcat	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101256954G>T	ENST00000223167.4	-	7	747	c.570C>A	c.(568-570)ttC>ttA	p.F190L		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	190	EF-hand 3.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCTCCTCACTGAAGCGGTCTG	0.547													False	0	False	7:101256954	0	T	101256954	G	T	101256954	3	4	88	1	0	0	0	0	1	0	0	0	10111	1281	45	3	118	3	MYL10	7	101256954	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	397446	101256954	57881709	8398	16110											
CUX1	1523	broad.mit.edu	37	chr7	101559470	101559470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtccagaaagcggcttatcGaacagagccgggagttcaag	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101559470G>A	ENST00000360264.3	+	2	159	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	CUX1_ENST00000550008.2_Missense_Mutation_p.E36K|CUX1_ENST00000292538.4_Missense_Mutation_p.E47K|CUX1_ENST00000546411.2_Missense_Mutation_p.E36K|CUX1_ENST00000437600.4_Missense_Mutation_p.E47K|CUX1_ENST00000556210.1_Missense_Mutation_p.E36K|CUX1_ENST00000549414.2_Missense_Mutation_p.E36K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Missense_Mutation_p.E47K|CUX1_ENST00000292535.7_Missense_Mutation_p.E36K|CUX1_ENST00000547394.2_Missense_Mutation_p.E47K	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	36					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCGGCTTATCGAACAGAGCCG	0.527													False	0	False	7:101559470	0	A	101559470	G	A	101559470	3	1	88	1	0	0	0	0	1	0	0	0	4089	1059	37	1	179	1	CUX1	7	101559470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302516	101559470	57579193	8399	16111											
CUX1	1523	broad.mit.edu	37	chr7	101747666	101747666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagaatatgaacagacaCtgaagaaccaagccgaaacc	8	11	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101747666C>T	ENST00000360264.3	+	6	510	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	CUX1_ENST00000437600.4_Silent_p.L164L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000550008.2_Silent_p.L153L|CUX1_ENST00000546411.2_Silent_p.L153L|CUX1_ENST00000393824.3_Silent_p.L127L|CUX1_ENST00000547394.2_Silent_p.L148L|CUX1_ENST00000292538.4_Silent_p.L164L|CUX1_ENST00000292535.7_Silent_p.L153L|CUX1_ENST00000549414.2_Silent_p.L153L|CUX1_ENST00000556210.1_Silent_p.L153L|CUX1_ENST00000425244.2_Silent_p.L118L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	153					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGAACAGACACTGAAGAACCA	0.398													False	0	False	7:101747666	0	T	101747666	C	T	101747666	2	4	88	1	0	0	0	0	0	0	0	1	4089	564	20	2		2	CUX1	7	101747666	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	188196	101747666	57390997	8400	16112											
CUX1	1523	broad.mit.edu	37	chr7	101848408	101848408	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttagtcctccactccgtgAcatcgctccaggacccgctg	8	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101848408A>G	ENST00000360264.3	+	20	3141	c.3121A>G	c.(3121-3123)Aca>Gca	p.T1041A	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.T974A|CUX1_ENST00000546411.2_Missense_Mutation_p.T928A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.T1030A|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.T1008A|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.T872A|CUX1_ENST00000425244.2_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1030					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCACTCCGTGACATCGCTCCA	0.512													False	0	False	7:101848408	0	G	101848408	A	G	101848408	3	3	88	1	0	0	0	0	1	0	0	0	4089	275	10	4	3233	4	CUX1	7	101848408	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	100742	101848408	57290255	8401	16113											
CUX1	1523	broad.mit.edu	37	chr7	101877361	101877361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttggggagaccatcttaGggctcacccaaggctctgtc	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101877361G>T	ENST00000360264.3	+	22	3516	c.3496G>T	c.(3496-3498)Ggg>Tgg	p.G1166W	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.G1099W|CUX1_ENST00000546411.2_Missense_Mutation_p.G1053W|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.G1155W|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G1133W|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.G997W|CUX1_ENST00000425244.2_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1155					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GACCATCTTAGGGCTCACCCA	0.557													False	0	True	7:101877361	0	T	101877361	G	T	101877361	3	4	88	1	0	0	0	0	1	0	0	0	4089	1000	35	3	3616	3	CUX1	7	101877361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28953	101877361	57261302	8402	16114											
CUX1	1523	broad.mit.edu	37	chr7	101877433	101877433	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagctcagtctgaaaggaCgagagcccttcgtccggatg	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101877433C>T	ENST00000360264.3	+	22	3588	c.3568C>T	c.(3568-3570)Cga>Tga	p.R1190*	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Nonsense_Mutation_p.R1123*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R1077*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Nonsense_Mutation_p.R1179*|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R1157*|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R1021*|CUX1_ENST00000425244.2_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1179					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCTGAAAGGACGAGAGCCCTT	0.557													False	0	False	7:101877433	0	T	101877433	C	T	101877433	4	4	88	1	0	0	0	0	0	1	0	0	4089	528	19	1	3688	1	CUX1	7	101877433	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72	101877433	57261230	8403	16115											
CUX1	1523	broad.mit.edu	37	chr7	101916707	101916707	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgagcagagagagctgatCgcccgcctggagcaggacct	14	12	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101916707C>T	ENST00000437600.4	+	15	1672	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Silent_p.I442I|CUX1_ENST00000393824.3_Silent_p.I403I|CUX1_ENST00000547394.2_Silent_p.I426I|CUX1_ENST00000425244.2_Silent_p.I396I	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	299					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGAGCTGATCGCCCGCCTGG	0.637													False	0	True	7:101916707	0	T	101916707	C	T	101916707	2	4	88	1	0	0	0	0	0	0	0	1	4089	874	31	1		1	CUX1	7	101916707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39274	101916707	57221956	8404	16116											
CUX1	1523	broad.mit.edu	37	chr7	101921318	101921318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagaagatcaagttcctGcagagctaccctggccgggt	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101921318G>A	ENST00000437600.4	+	18	2008	c.1656G>A	c.(1654-1656)ctG>ctA	p.L552L	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Silent_p.L554L|CUX1_ENST00000393824.3_Silent_p.L515L|CUX1_ENST00000547394.2_Silent_p.L538L|CUX1_ENST00000425244.2_Silent_p.L508L	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	361					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCAAGTTCCTGCAGAGCTACC	0.652													False	0	False	7:101921318	0	A	101921318	G	A	101921318	2	1	88	1	0	0	0	0	0	0	0	1	4089	1306	46	2		2	CUX1	7	101921318	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4611	101921318	57217345	8405	16117											
ALKBH4	54784	broad.mit.edu	37	chr7	102098304	102098304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgcactgctcgacgggcCggaagccctccagccccggg	15	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102098304C>T	ENST00000292566.3	-	3	485	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	149						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						CTCGACGGGCCGGAAGCCCTC	0.692													False	0	False	7:102098304	0	T	102098304	C	T	102098304	3	4	88	1	0	0	0	0	1	0	0	0	529	652	23	1	466	1	ALKBH4	7	102098304	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176986	102098304	57040359	8406	16118											
LRWD1	222229	broad.mit.edu	37	chr7	102106440	102106440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgggggatgttactgCcttgtgccagttccccaagc	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102106440C>T	ENST00000292616.5	+	2	409	c.257C>T	c.(256-258)gCc>gTc	p.A86V		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	86					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GATGTTACTGCCTTGTGCCAG	0.627													False	0	False	7:102106440	0	T	102106440	C	T	102106440	3	4	88	1	0	0	0	0	1	0	0	0	9109	739	26	2	263	2	LRWD1	7	102106440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8136	102106440	57032223	8407	16119											
LRWD1	222229	broad.mit.edu	37	chr7	102107909	102107909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgggcccgagtccctcagcGagttcacccagtggcgggta	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102107909G>A	ENST00000292616.5	+	4	708	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	186					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GTCCCTCAGCGAGTTCACCCA	0.622											OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	7:102107909	0	A	102107909	G	A	102107909	3	1	88	1	0	0	0	0	1	0	0	0	9109	1059	37	1	570	1	LRWD1	7	102107909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1469	102107909	57030754	8408	16120											
LRWD1	222229	broad.mit.edu	37	chr7	102113476	102113476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacggactccaacatcgtaGccatctgggggaggatgtag	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102113476G>A	ENST00000292616.5	+	15	2076	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	642					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CAACATCGTAGCCATCTGGGG	0.592													False	0	False	7:102113476	0	A	102113476	G	A	102113476	3	1	88	1	0	0	0	0	1	0	0	0	9109	971	34	2	1982	2	LRWD1	7	102113476	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5567	102113476	57025187	8409	16121											
FBXL13	222235	broad.mit.edu	37	chr7	102524065	102524065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaagagctctgaaagtaCaatcggagatatgcggtgca	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102524065C>T	ENST00000393772.2	-	13	1601	c.1175G>A	c.(1174-1176)tGt>tAt	p.C392Y	FBXL13_ENST00000436908.1_Missense_Mutation_p.C392Y|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.C392Y|FBXL13_ENST00000455112.2_Missense_Mutation_p.C392Y|FBXL13_ENST00000313221.4_Missense_Mutation_p.C392Y|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.C392Y			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	392										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCTGAAAGTACAATCGGAGAT	0.338													False	0	False	7:102524065	0	T	102524065	C	T	102524065	3	4	88	1	0	0	0	0	1	0	0	0	5749	478	17	2	1064	2	FBXL13	7	102524065	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410589	102524065	56614598	8410	16122											
NAPEPLD	222236	broad.mit.edu	37	chr7	102760532	102760532	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctaaagatgggatccgtgaGaaatatgagctcatccattt	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102760532G>T	ENST00000417955.1	-	3	587	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	NAPEPLD_ENST00000427257.1_Missense_Mutation_p.L145I|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L218I|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.L145I|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.L145I			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	145					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGATCCGTGAGAAATATGAGC	0.498													False	0	True	7:102760532	0	T	102760532	G	T	102760532	3	4	88	1	0	0	0	0	1	0	0	0	10230	942	33	3	760	3	NAPEPLD	7	102760532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236467	102760532	56378131	8411	16123											
DNAJC2	27000	broad.mit.edu	37	chr7	102967077	102967077	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaactgagttatcaaaagtaGgatctacactgttaaatgct	8	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102967077G>T	ENST00000379263.3	-	5	735	c.485C>A	c.(484-486)cCt>cAt	p.P162H	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.P162H	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	162	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ATCAAAAGTAGGATCTACACT	0.343													False	0	False	7:102967077	0	T	102967077	G	T	102967077	3	4	88	1	0	0	0	0	1	0	0	0	4669	1000	35	3	1432	3	DNAJC2	7	102967077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206545	102967077	56171586	8412	16124											
PSMC2	5701	broad.mit.edu	37	chr7	103008360	103008360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtgctgagattagaagCgtctgcacagaggctggtat	14	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103008360C>T	ENST00000435765.1	+	13	1572	c.1161C>T	c.(1159-1161)agC>agT	p.S387S	SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000292644.3_Silent_p.S387S|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Silent_p.S250S	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	387					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	p.S387S(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGATTAGAAGCGTCTGCACAG	0.408													False	0	False	7:103008360	0	T	103008360	C	T	103008360	2	4	88	1	0	0	0	0	0	0	0	1	12762	767	27	1		1	PSMC2	7	103008360	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41283	103008360	56130303	8413	16125											
SLC26A5	375611	broad.mit.edu	37	chr7	103014868	103014868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcctcaggagtggcaggaGtggcattgggctccaagtcc	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103014868G>A	ENST00000306312.3	-	20	2474	c.2213C>T	c.(2212-2214)aCt>aTt	p.T738I	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.T706I|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.T740I|SLC26A5_ENST00000393723.1_Missense_Mutation_p.T708I|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.T701I|SLC26A5_ENST00000354356.4_Missense_Mutation_p.T171I|SLC26A5_ENST00000393730.1_Missense_Mutation_p.T706I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	738					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AGTGGCAGGAGTGGCATTGGG	0.498													False	0	False	7:103014868	0	A	103014868	G	A	103014868	3	1	88	1	0	0	0	0	1	0	0	0	14600	1029	36	2	66	2	SLC26A5	7	103014868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6508	103014868	56123795	8414	16126											
SLC26A5	375611	broad.mit.edu	37	chr7	103033451	103033451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatccaacgatggctatgGcaatggcatctacgtacaca	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103033451G>T	ENST00000306312.3	-	10	1295	c.1034C>A	c.(1033-1035)gCc>gAc	p.A345D	SLC26A5_ENST00000393735.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A345D|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A345D|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A345D|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A308D|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A345D	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	345					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.A345V(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GATGGCTATGGCAATGGCATC	0.478													False	0	True	7:103033451	0	T	103033451	G	T	103033451	3	4	88	1	0	0	0	0	1	0	0	0	14600	1203	42	3	1285	3	SLC26A5	7	103033451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18583	103033451	56105212	8415	16127											
RELN	5649	broad.mit.edu	37	chr7	103138291	103138291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcggtagagtagtccaacaGcacgccttccttccggcaga	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138291G>A	ENST00000428762.1	-	55	9085	c.8926C>T	c.(8926-8928)Ctg>Ttg	p.L2976L	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.L2976L|RELN_ENST00000424685.2_Silent_p.L2976L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2976					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGTCCAACAGCACGCCTTCC	0.527													False	0	False	7:103138291	0	A	103138291	G	A	103138291	2	1	88	1	0	0	0	0	0	0	0	1	13299	962	34	2		2	RELN	7	103138291	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104840	103138291	56000372	8416	16128											
RELN	5649	broad.mit.edu	37	chr7	103138584	103138584	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtggatcccccaaaaTagagtgcagtgtcctcggca	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138584T>C	ENST00000428762.1	-	54	8942	c.8783A>G	c.(8782-8784)tAt>tGt	p.Y2928C	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.Y2928C|RELN_ENST00000424685.2_Missense_Mutation_p.Y2928C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2928					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCCCCAAAATAGAGTGCAGT	0.423													False	0	True	7:103138584	0	C	103138584	T	C	103138584	3	2	88	1	0	0	0	0	1	0	0	0	13299	1406	49	4	1647	4	RELN	7	103138584	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	293	103138584	56000079	8417	16129											
RELN	5649	broad.mit.edu	37	chr7	103138682	103138682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatttcttcactgtcaaaGcgttccttcaggaaagtctg	8	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138682G>A	ENST00000428762.1	-	54	8844	c.8685C>T	c.(8683-8685)cgC>cgT	p.R2895R	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.R2895R|RELN_ENST00000424685.2_Silent_p.R2895R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2895					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACTGTCAAAGCGTTCCTTCA	0.373													False	0	True	7:103138682	0	A	103138682	G	A	103138682	2	1	88	1	0	0	0	0	0	0	0	1	13299	958	34	2		2	RELN	7	103138682	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	103138682	55999981	8418	16130											
RELN	5649	broad.mit.edu	37	chr7	103141228	103141228	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtagcagtttggccctgaGtatcccggatcacagatgca	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103141228G>T	ENST00000428762.1	-	53	8790	c.8631C>A	c.(8629-8631)taC>taA	p.Y2877*	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Nonsense_Mutation_p.Y2877*|RELN_ENST00000424685.2_Nonsense_Mutation_p.Y2877*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2877	EGF-like 7.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGGCCCTGAGTATCCCGGAT	0.512													False	0	False	7:103141228	0	T	103141228	G	T	103141228	4	4	88	1	0	0	0	0	0	1	0	0	13299	1024	36	3	1803	3	RELN	7	103141228	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2546	103141228	55997435	8419	16131											
RELN	5649	broad.mit.edu	37	chr7	103175782	103175782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtataaggagggagagGcagagtgattctagtccact	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103175782G>A	ENST00000424685.2	-	46	7489	c.7330C>T	c.(7330-7332)Cct>Tct	p.P2444S	RELN_ENST00000343529.5_Missense_Mutation_p.P2444S|RELN_ENST00000428762.1_Missense_Mutation_p.P2444S			P78509	RELN_HUMAN	reelin	2444					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAGGGAGAGGCAGAGTGATT	0.453													False	0	False	7:103175782	0	A	103175782	G	A	103175782	3	1	88	1	0	0	0	0	1	0	0	0	13299	1203	42	2	3132	2	RELN	7	103175782	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34554	103175782	55962881	8420	16132											
RELN	5649	broad.mit.edu	37	chr7	103191616	103191616	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtgctcggtggagcataaaGagctgacgtggctgctgctg	17	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103191616G>T	ENST00000424685.2	-	41	6359	c.6200C>A	c.(6199-6201)tCt>tAt	p.S2067Y	RELN_ENST00000343529.5_Missense_Mutation_p.S2067Y|RELN_ENST00000428762.1_Missense_Mutation_p.S2067Y			P78509	RELN_HUMAN	reelin	2067					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAGCATAAAGAGCTGACGTG	0.597													False	0	True	7:103191616	0	T	103191616	G	T	103191616	3	4	88	1	0	0	0	0	1	0	0	0	13299	942	33	3	4282	3	RELN	7	103191616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15834	103191616	55947047	8421	16133											
RELN	5649	broad.mit.edu	37	chr7	103197551	103197551	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatccatcaggtgccaagtGattcctccactgatggagaa	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103197551G>A	ENST00000424685.2	-	38	5829	c.5670C>T	c.(5668-5670)atC>atT	p.I1890I	RELN_ENST00000343529.5_Silent_p.I1890I|RELN_ENST00000428762.1_Silent_p.I1890I			P78509	RELN_HUMAN	reelin	1890					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTGCCAAGTGATTCCTCCAC	0.383													False	0	False	7:103197551	0	A	103197551	G	A	103197551	2	1	88	1	0	0	0	0	0	0	0	1	13299	1280	45	2		2	RELN	7	103197551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5935	103197551	55941112	8422	16134											
RELN	5649	broad.mit.edu	37	chr7	103215993	103215993	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacacatgtatttagccttAccagtatatcccaggtcaca	6	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103215993A>G	ENST00000424685.2	-	29	4463		c.e29+1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000428762.1_Splice_Site			P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTTAGCCTTACCAGTATATC	0.398													False	0	False	7:103215993	0	G	103215993	A	G	103215993	5	3	88	1	0	0	0	0	0	0	1	0	13299	405	14	4	6225	4	RELN	7	103215993	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18442	103215993	55922670	8423	16135											
RELN	5649	broad.mit.edu	37	chr7	103276725	103276725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtaattagctgacgccGcccatctttgttgaaaacca	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103276725G>A	ENST00000424685.2	-	18	2419	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	RELN_ENST00000343529.5_Missense_Mutation_p.R754W|RELN_ENST00000428762.1_Missense_Mutation_p.R754W			P78509	RELN_HUMAN	reelin	754					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGACGCCGCCCATCTTTG	0.443													False	0	True	7:103276725	0	A	103276725	G	A	103276725	3	1	88	1	0	0	0	0	1	0	0	0	13299	1086	38	1	8314	1	RELN	7	103276725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60732	103276725	55861938	8424	16136											
RELN	5649	broad.mit.edu	37	chr7	103290811	103290811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagtgctgcgttaggaagggGaattgttattcggttccacc	13	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103290811G>A	ENST00000424685.2	-	16	2071	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	RELN_ENST00000343529.5_Missense_Mutation_p.P638S|RELN_ENST00000428762.1_Missense_Mutation_p.P638S			P78509	RELN_HUMAN	reelin	638					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTAGGAAGGGGAATTGTTATT	0.398													False	0	True	7:103290811	0	A	103290811	G	A	103290811	3	1	88	1	0	0	0	0	1	0	0	0	13299	1174	41	2	8670	2	RELN	7	103290811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14086	103290811	55847852	8425	16137											
RELN	5649	broad.mit.edu	37	chr7	103292173	103292173	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagcacagatctcaggTaagcattcagtgtgaaggag	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103292173T>C	ENST00000424685.2	-	15	1986	c.1827A>G	c.(1825-1827)ttA>ttG	p.L609L	RELN_ENST00000343529.5_Silent_p.L609L|RELN_ENST00000428762.1_Silent_p.L609L			P78509	RELN_HUMAN	reelin	609					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGATCTCAGGTAAGCATTCAG	0.483													False	0	False	7:103292173	0	C	103292173	T	C	103292173	2	2	88	1	0	0	0	0	0	0	0	1	13299	1635	57	4		4	RELN	7	103292173	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1362	103292173	55846490	8426	16138											
LHFPL3	375612	broad.mit.edu	37	chr7	104377124	104377124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctttctctccaagctGcctgccttgtgcttggctgt	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:104377124G>A	ENST00000424859.1	+	2	572	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	LHFPL3_ENST00000535008.1_Intron|LHFPL3_ENST00000543266.1_Intron|LHFPL3_ENST00000401970.2_Missense_Mutation_p.A136T	NM_199000.2	NP_945351.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	136						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						TCTCCAAGCTGCCTGCCTTGT	0.398													False	0	True	7:104377124	0	A	104377124	G	A	104377124	3	1	88	1	0	0	0	0	1	0	0	0	8818	1319	46	2	454	2	LHFPL3	7	104377124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1084951	104377124	54761539	8427	16139											
RINT1	60561	broad.mit.edu	37	chr7	105177065	105177065	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacaagtcagtgaaggtacaGataatggtgatctcccttct	9	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105177065G>T	ENST00000257700.2	+	3	373	c.142G>T	c.(142-144)Gat>Tat	p.D48Y		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	48					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGAAGGTACAGATAATGGTGA	0.338													False	0	False	7:105177065	0	T	105177065	G	T	105177065	3	4	88	1	0	0	0	0	1	0	0	0	13455	942	33	3	152	3	RINT1	7	105177065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	799941	105177065	53961598	8428	16140											
RINT1	60561	broad.mit.edu	37	chr7	105189035	105189035	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgagccaaagcaactcccaGaaaaatactctcttcctgcc	5	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105189035G>T	ENST00000257700.2	+	7	1105	c.874G>T	c.(874-876)Gaa>Taa	p.E292*		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	292	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCAACTCCCAGAAAAATACTC	0.423													False	0	True	7:105189035	0	T	105189035	G	T	105189035	4	4	88	1	0	0	0	0	0	1	0	0	13455	943	33	3	900	3	RINT1	7	105189035	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11970	105189035	53949628	8429	16141											
RINT1	60561	broad.mit.edu	37	chr7	105190563	105190563	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatactgaatttctggatgAgaagattcagccaatattag	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105190563A>C	ENST00000257700.2	+	8	1289	c.1058A>C	c.(1057-1059)gAg>gCg	p.E353A		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	353	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTCTGGATGAGAAGATTCAG	0.378													False	0	False	7:105190563	0	C	105190563	A	C	105190563	3	2	88	1	0	0	0	0	1	0	0	0	13455	304	11	4	1088	4	RINT1	7	105190563	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1528	105190563	53948100	8430	16142											
RINT1	60561	broad.mit.edu	37	chr7	105204333	105204333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagcatgatatgttgaccCgtcaagtagaccacgttttt	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105204333C>T	ENST00000257700.2	+	12	2056	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	609	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TATGTTGACCCGTCAAGTAGA	0.383													False	0	True	7:105204333	0	T	105204333	C	T	105204333	3	4	88	1	0	0	0	0	1	0	0	0	13455	652	23	1	1871	1	RINT1	7	105204333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13770	105204333	53934330	8431	16143											
CDHR3	222256	broad.mit.edu	37	chr7	105660870	105660870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagccaatttgtactccaAactcttatttcctggccctc	4	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105660870A>G	ENST00000542731.1	+	13	1813	c.1705A>G	c.(1705-1707)Aac>Gac	p.N569D	CDHR3_ENST00000317716.9_Missense_Mutation_p.N569D|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.N481D|CDHR3_ENST00000470188.1_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	569	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TTGTACTCCAAACTCTTATTT	0.408													False	0	True	7:105660870	0	G	105660870	A	G	105660870	3	3	88	1	0	0	0	0	1	0	0	0	3143	14	1	4	1755	4	CDHR3	7	105660870	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	456537	105660870	53477793	8432	16144											
SYPL1	0	broad.mit.edu	37	chr7	105739626	105739626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatggataaccaaaagtagCtgtaacagttttattctcag	8	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105739626C>A	ENST00000455385.2	-	2	294	c.172G>T	c.(172-174)Gct>Tct	p.A58S	SYPL1_ENST00000011473.2_Missense_Mutation_p.A76S|SYPL1_ENST00000470347.1_Missense_Mutation_p.A58S	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	76	MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CCAAAAGTAGCTGTAACAGTT	0.348													False	0	False	7:105739626	0	A	105739626	C	A	105739626	3	1	88	1	0	0	0	0	1	0	0	0	15544	797	28	3	569	3	SYPL1	7	105739626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78756	105739626	53399037	8433	16145											
PIK3CG	5294	broad.mit.edu	37	chr7	106508946	106508946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacacgcctccagacccgGccctagacgaggtgaggaag	14	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106508946G>A	ENST00000359195.3	+	2	1250	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A314T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A314T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	314					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCCAGACCCGGCCCTAGACGA	0.592													False	0	True	7:106508946	0	A	106508946	G	A	106508946	3	1	88	1	0	0	0	0	1	0	0	0	11985	1203	42	2	942	2	PIK3CG	7	106508946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	769320	106508946	52629717	8434	16146											
PIK3CG	5294	broad.mit.edu	37	chr7	106513018	106513018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataccatgatagcgcccttGccagatttctgctgaagcgt	9	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106513018G>A	ENST00000359195.3	+	3	2342	c.2032G>A	c.(2032-2034)Gcc>Acc	p.A678T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A678T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A678T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	678					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TAGCGCCCTTGCCAGATTTCT	0.393													False	0	False	7:106513018	0	A	106513018	G	A	106513018	3	1	88	1	0	0	0	0	1	0	0	0	11985	1319	46	2	2038	2	PIK3CG	7	106513018	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4072	106513018	52625645	8435	16147											
PIK3CG	5294	broad.mit.edu	37	chr7	106513208	106513208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgagaagtgagatagcCcagtccagacactatcagca	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106513208C>T	ENST00000359195.3	+	4	2422	c.2112C>T	c.(2110-2112)gcC>gcT	p.A704A	PIK3CG_ENST00000440650.2_Silent_p.A704A|PIK3CG_ENST00000496166.1_Silent_p.A704A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	704					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGAGATAGCCCAGTCCAGAC	0.448													False	0	True	7:106513208	0	T	106513208	C	T	106513208	2	4	88	1	0	0	0	0	0	0	0	1	11985	610	22	2		2	PIK3CG	7	106513208	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190	106513208	52625455	8436	16148											
PRKAR2B	5577	broad.mit.edu	37	chr7	106762403	106762403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtttttatagtatgtgCagaagcttataatcctgatg	8	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106762403C>T	ENST00000265717.4	+	3	609	c.350C>T	c.(349-351)gCa>gTa	p.A117V	PRKAR2B_ENST00000393613.2_3'UTR|CTA-360L10.1_ENST00000494849.1_RNA	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	117	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						ATAGTATGTGCAGAAGCTTAT	0.299													False	0	False	7:106762403	0	T	106762403	C	T	106762403	3	4	88	1	0	0	0	0	1	0	0	0	12582	710	25	2	360	2	PRKAR2B	7	106762403	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249195	106762403	52376260	8437	16149											
HBP1	26959	broad.mit.edu	37	chr7	106820368	106820368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgaagacaaatcagatGcctaatgcagtacagaaact	9	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106820368G>A	ENST00000222574.4	+	2	216	c.30G>A	c.(28-30)atG>atA	p.M10I	HBP1_ENST00000468410.1_Missense_Mutation_p.M10I|HBP1_ENST00000485846.1_Missense_Mutation_p.M10I	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	10					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CAAATCAGATGCCTAATGCAG	0.413													False	0	False	7:106820368	0	A	106820368	G	A	106820368	3	1	88	1	0	0	0	0	1	0	0	0	7032	1319	46	2	32	2	HBP1	7	106820368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57965	106820368	52318295	8438	16150											
DUS4L	11062	broad.mit.edu	37	chr7	107214206	107214206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagacttttatctgatgCtgctcgtatagtctgtcctt	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107214206C>T	ENST00000265720.3	+	5	658	c.296C>T	c.(295-297)gCt>gTt	p.A99V	DUS4L_ENST00000402620.1_Intron	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	99					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TTATCTGATGCTGCTCGTATA	0.378													False	0	False	7:107214206	0	T	107214206	C	T	107214206	3	4	88	1	0	0	0	0	1	0	0	0	4838	797	28	2	306	2	DUS4L	7	107214206	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	393838	107214206	51924457	8439	16151											
SLC26A4	5172	broad.mit.edu	37	chr7	107315528	107315528	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtttcaaccaaaaacTacaatggagttctctctatt	4	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107315528T>C	ENST00000265715.3	+	6	963	c.739T>C	c.(739-741)Tac>Cac	p.Y247H		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	247					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AACCAAAAACTACAATGGAGT	0.433									Pendred syndrome				False	0	False	7:107315528	0	C	107315528	T	C	107315528	3	2	88	1	0	0	0	0	1	0	0	0	14599	1522	53	4	757	4	SLC26A4	7	107315528	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	101322	107315528	51823135	8440	16152											
SLC26A4	5172	broad.mit.edu	37	chr7	107340571	107340571	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattcttagattttccagtcCtattttctatggcaatgtcg	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107340571C>A	ENST00000265715.3	+	15	1882	c.1658C>A	c.(1657-1659)cCt>cAt	p.P553H	SLC26A4_ENST00000544569.1_Missense_Mutation_p.P140H|SLC26A4_ENST00000543100.1_Missense_Mutation_p.P122H|SLC26A4_ENST00000541474.1_Missense_Mutation_p.P114H|SLC26A4_ENST00000480841.1_3'UTR	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	553	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTTTCCAGTCCTATTTTCTAT	0.313									Pendred syndrome				False	0	False	7:107340571	0	A	107340571	C	A	107340571	3	1	88	1	0	0	0	0	1	0	0	0	14599	681	24	3	1712	3	SLC26A4	7	107340571	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25043	107340571	51798092	8441	16153											
SLC26A4	5172	broad.mit.edu	37	chr7	107341615	107341615	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatacagaaactaataAaaagtggacaattaagagca	8	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107341615A>C	ENST00000265715.3	+	16	2001	c.1777A>C	c.(1777-1779)Aaa>Caa	p.K593Q	SLC26A4_ENST00000544569.1_Missense_Mutation_p.K180Q|SLC26A4_ENST00000543100.1_Missense_Mutation_p.K162Q|SLC26A4_ENST00000541474.1_Missense_Mutation_p.K154Q|SLC26A4_ENST00000480841.1_3'UTR	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	593	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GAAACTAATAAAAAGTGGACA	0.338									Pendred syndrome				False	0	True	7:107341615	0	C	107341615	A	C	107341615	3	2	88	1	0	0	0	0	1	0	0	0	14599	15	1	4	1835	4	SLC26A4	7	107341615	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1044	107341615	51797048	8442	16154											
CBLL1	79872	broad.mit.edu	37	chr7	107399574	107399574	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccttctcaaaccccacttcCtggaccacatcatccagatc	4	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107399574C>A	ENST00000440859.3	+	6	1894	c.1427C>A	c.(1426-1428)cCt>cAt	p.P476H	CBLL1_ENST00000222597.2_Missense_Mutation_p.P475H	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase		Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ACCCCACTTCCTGGACCACAT	0.463													False	0	False	7:107399574	0	A	107399574	C	A	107399574	3	1	88	1	0	0	0	0	1	0	0	0	2723	681	24	3	1449	3	CBLL1	7	107399574	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57959	107399574	51739089	8443	16155											
SLC26A3	1811	broad.mit.edu	37	chr7	107416898	107416898	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaataaccccaaaccttacaGcatcgataagtttccgccta	4	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416898G>T	ENST00000340010.5	-	15	1860	c.1676C>A	c.(1675-1677)gCt>gAt	p.A559D	SLC26A3_ENST00000422236.2_Splice_Site_p.A524D	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	559	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.A559V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAACCTTACAGCATCGATAAG	0.383													False	0	False	7:107416898	0	T	107416898	G	T	107416898	5	4	88	1	0	0	0	0	0	0	1	0	14598	985	34	3	646	3	SLC26A3	7	107416898	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17324	107416898	51721765	8444	16156											
SLC26A3	1811	broad.mit.edu	37	chr7	107416977	107416977	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgaaaattttcactccttCtggctcatacatctgtaagg	6	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416977C>A	ENST00000340010.5	-	15	1781	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*	SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.E498*	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	533	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.E533K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378													False	0	False	7:107416977	0	A	107416977	C	A	107416977	4	1	88	1	0	0	0	0	0	1	0	0	14598	922	32	3	725	3	SLC26A3	7	107416977	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	107416977	51721686	8445	16157											
SLC26A3	1811	broad.mit.edu	37	chr7	107423656	107423656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtttacttacctgattGccatcaagtggataatcgta	8	7	1	1	rs146803737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107423656G>A	ENST00000340010.5	-	9	1297	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G	SLC26A3_ENST00000422236.2_Silent_p.G336G	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	371					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTACCTGATTGCCATCAAGTG	0.418													False	0	False	7:107423656	0	A	107423656	G	A	107423656	2	1	88	1	0	0	0	0	0	0	0	1	14598	1306	46	2		2	SLC26A3	7	107423656	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6679	107423656	51715007	8446	16158											
DLD	1738	broad.mit.edu	37	chr7	107556055	107556055	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatctaaaaactttcaacgCatccttcaaaaacaggggtt	5	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107556055C>T	ENST00000205402.5	+	9	1070	c.789C>T	c.(787-789)cgC>cgT	p.R263R	DLD_ENST00000440410.1_Silent_p.R240R|DLD_ENST00000437604.2_Silent_p.R215R|DLD_ENST00000537148.1_Silent_p.R164R	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	263					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	ACTTTCAACGCATCCTTCAAA	0.358													False	0	False	7:107556055	0	T	107556055	C	T	107556055	2	4	88	1	0	0	0	0	0	0	0	1	4581	697	25	2		2	DLD	7	107556055	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132399	107556055	51582608	8447	16159											
LAMB1	3912	broad.mit.edu	37	chr7	107569959	107569959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggctttcaactcgttcaCgtatatcttctgtcaagttc	6	10	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107569959C>T	ENST00000393561.1	-	28	4899	c.4715G>A	c.(4714-4716)cGt>cAt	p.R1572H	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000222399.6_Missense_Mutation_p.R1548H			P07942	LAMB1_HUMAN	laminin, beta 1	1548	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACTCGTTCACGTATATCTTC	0.423													False	0	False	7:107569959	0	T	107569959	C	T	107569959	3	4	88	1	0	0	0	0	1	0	0	0	8661	536	19	1	737	1	LAMB1	7	107569959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13904	107569959	51568704	8448	16160											
LAMB1	3912	broad.mit.edu	37	chr7	107616323	107616323	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgttcattgcagttacattCtgcgtgacaagagcaacgtc	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107616323C>A	ENST00000393561.1	-	8	1257		c.e8-1		LAMB1_ENST00000393560.1_Splice_Site|LAMB1_ENST00000222399.6_Splice_Site			P07942	LAMB1_HUMAN	laminin, beta 1						axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTTACATTCTGCGTGACAA	0.483													False	0	False	7:107616323	0	A	107616323	C	A	107616323	5	1	88	1	0	0	0	0	0	0	1	0	8661	927	32	3	4460	3	LAMB1	7	107616323	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46364	107616323	51522340	8449	16161											
LAMB1	3912	broad.mit.edu	37	chr7	107626718	107626718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatgcctggaaacgaggCctcacagtcataggcgaagt	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107626718C>T	ENST00000393561.1	-	4	770	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	LAMB1_ENST00000393560.1_Missense_Mutation_p.A172T|LAMB1_ENST00000222399.6_Missense_Mutation_p.A172T			P07942	LAMB1_HUMAN	laminin, beta 1	172	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.A172T(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAAACGAGGCCTCACAGTCA	0.463													False	0	False	7:107626718	0	T	107626718	C	T	107626718	3	4	88	1	0	0	0	0	1	0	0	0	8661	739	26	2	4962	2	LAMB1	7	107626718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10395	107626718	51511945	8450	16162											
LAMB1	3912	broad.mit.edu	37	chr7	107638873	107638873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccacattttcaatgagatggCtgtcaggattcagggtctca	10	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107638873C>A	ENST00000393561.1	-	2	534	c.350G>T	c.(349-351)aGc>aTc	p.S117I	LAMB1_ENST00000393560.1_Missense_Mutation_p.S93I|LAMB1_ENST00000222399.6_Missense_Mutation_p.S93I			P07942	LAMB1_HUMAN	laminin, beta 1	93	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATGAGATGGCTGTCAGGATT	0.423													False	0	False	7:107638873	0	A	107638873	C	A	107638873	3	1	88	1	0	0	0	0	1	0	0	0	8661	797	28	3	5206	3	LAMB1	7	107638873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12155	107638873	51499790	8451	16163											
LAMB4	22798	broad.mit.edu	37	chr7	107677867	107677867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccaaaagcttttgggCtccatctgcttcttcattta	5	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107677867C>T	ENST00000388781.3	-	30	4728	c.4645G>A	c.(4645-4647)Gcc>Acc	p.A1549T	LAMB4_ENST00000388780.3_Missense_Mutation_p.A1549T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1549T|LAMB4_ENST00000483484.1_5'UTR	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1549	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGCTTTTGGGCTCCATCTGCT	0.388													False	0	True	7:107677867	0	T	107677867	C	T	107677867	3	4	88	1	0	0	0	0	1	0	0	0	8664	797	28	2	660	2	LAMB4	7	107677867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38994	107677867	51460796	8452	16164											
LAMB4	22798	broad.mit.edu	37	chr7	107706353	107706353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaggatttccatagtaaCcatcaatacacctgtcaaga	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107706353C>T	ENST00000388781.3	-	21	2773	c.2690G>A	c.(2689-2691)gGt>gAt	p.G897D	LAMB4_ENST00000388780.3_Missense_Mutation_p.G897D|LAMB4_ENST00000205386.4_Missense_Mutation_p.G897D	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	897	Laminin EGF-like 8.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCCATAGTAACCATCAATACA	0.418													False	0	False	7:107706353	0	T	107706353	C	T	107706353	3	4	88	1	0	0	0	0	1	0	0	0	8664	507	18	2	2651	2	LAMB4	7	107706353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28486	107706353	51432310	8453	16165											
LAMB4	22798	broad.mit.edu	37	chr7	107743565	107743565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcggtcgcagtgctgCccctcagtgttgtgctggca	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107743565C>T	ENST00000388781.3	-	10	1187	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	LAMB4_ENST00000418464.1_Silent_p.G368G|LAMB4_ENST00000388780.3_Silent_p.G368G|LAMB4_ENST00000414450.2_Silent_p.G368G|LAMB4_ENST00000205386.4_Silent_p.G368G	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	368	Laminin EGF-like 2.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CGCAGTGCTGCCCCTCAGTGT	0.612													False	0	True	7:107743565	0	T	107743565	C	T	107743565	2	4	88	1	0	0	0	0	0	0	0	1	8664	726	26	2		2	LAMB4	7	107743565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37212	107743565	51395098	8454	16166											
NRCAM	4897	broad.mit.edu	37	chr7	107790514	107790514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatagtcaactaggctgtcGtcactatcttcttttttcac	5	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107790514G>A	ENST00000379028.3	-	33	4226	c.3756C>T	c.(3754-3756)gaC>gaT	p.D1252D	NRCAM_ENST00000351718.4_Silent_p.D1131D|NRCAM_ENST00000413765.2_Silent_p.D1128D|NRCAM_ENST00000379024.4_Silent_p.D1140D|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000425651.2_Silent_p.D1252D			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1252					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTAGGCTGTCGTCACTATCTT	0.433													False	0	False	7:107790514	0	A	107790514	G	A	107790514	2	1	88	1	0	0	0	0	0	0	0	1	10712	1136	40	1		1	NRCAM	7	107790514	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46949	107790514	51348149	8455	16167											
NRCAM	4897	broad.mit.edu	37	chr7	107825029	107825029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgccacagccctggcttgtGcattgcatcttcatattcga	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107825029G>T	ENST00000379028.3	-	21	2535	c.2065C>A	c.(2065-2067)Cac>Aac	p.H689N	NRCAM_ENST00000351718.4_Missense_Mutation_p.H673N|NRCAM_ENST00000413765.2_Missense_Mutation_p.H670N|NRCAM_ENST00000379024.4_Missense_Mutation_p.H670N|NRCAM_ENST00000379022.4_Missense_Mutation_p.H689N|NRCAM_ENST00000425651.2_Missense_Mutation_p.H689N			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	689	Fibronectin type-III 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCTGGCTTGTGCATTGCATCT	0.502													False	0	True	7:107825029	0	T	107825029	G	T	107825029	3	4	88	1	0	0	0	0	1	0	0	0	10712	1319	46	3	1931	3	NRCAM	7	107825029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34515	107825029	51313634	8456	16168											
NRCAM	4897	broad.mit.edu	37	chr7	107831702	107831702	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actcatattagtttaccgtaAacgggagctggagttggagt	12	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107831702A>C	ENST00000379028.3	-	19	2399	c.1929T>G	c.(1927-1929)gtT>gtG	p.V643V	NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000413765.2_Silent_p.V624V|NRCAM_ENST00000379024.4_Silent_p.V624V|NRCAM_ENST00000379022.4_Silent_p.V643V|NRCAM_ENST00000425651.2_Silent_p.V643V			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	643					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GTTTACCGTAAACGGGAGCTG	0.318													False	0	True	7:107831702	0	C	107831702	A	C	107831702	2	2	88	1	0	0	0	0	0	0	0	1	10712	1	1	4		4	NRCAM	7	107831702	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6673	107831702	51306961	8457	16169											
PNPLA8	50640	broad.mit.edu	37	chr7	108128376	108128376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgttatccctctatttaCtatggtacttacagcagcta	8	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108128376C>A	ENST00000422087.1	-	10	2111	c.1705G>T	c.(1705-1707)Gta>Tta	p.V569L	PNPLA8_ENST00000436062.1_Missense_Mutation_p.V569L|PNPLA8_ENST00000257694.8_Missense_Mutation_p.V569L|PNPLA8_ENST00000453144.1_Missense_Mutation_p.V469L|PNPLA8_ENST00000388728.5_Intron|PNPLA8_ENST00000426128.2_Intron	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	569	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CCTCTATTTACTATGGTACTT	0.328													False	0	False	7:108128376	0	A	108128376	C	A	108128376	3	1	88	1	0	0	0	0	1	0	0	0	12240	565	20	3	655	3	PNPLA8	7	108128376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	296674	108128376	51010287	8458	16170											
PNPLA8	50640	broad.mit.edu	37	chr7	108155556	108155556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaacttggcttaaattgaGctaaacgtgaaatcatttca	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108155556G>A	ENST00000426128.2	-	2	505	c.380C>T	c.(379-381)gCt>gTt	p.A127V	PNPLA8_ENST00000436062.1_Missense_Mutation_p.A127V|PNPLA8_ENST00000257694.8_Missense_Mutation_p.A127V|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.A27V|PNPLA8_ENST00000388728.5_Missense_Mutation_p.A127V|PNPLA8_ENST00000422087.1_Missense_Mutation_p.A127V	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	127					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CTTAAATTGAGCTAAACGTGA	0.318													False	0	False	7:108155556	0	A	108155556	G	A	108155556	3	1	88	1	0	0	0	0	1	0	0	0	12240	971	34	2	2004	2	PNPLA8	7	108155556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27180	108155556	50983107	8459	16171											
C7orf66	154907	broad.mit.edu	37	chr7	108524165	108524165	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgagatatgtatccctcatGaattctagttctgtatctct	6	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108524165G>A	ENST00000379007.2	-	2	301	c.247C>T	c.(247-249)Cat>Tat	p.H83Y		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	83						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TATCCCTCATGAATTCTAGTT	0.393													False	0	False	7:108524165	0	A	108524165	G	A	108524165	3	1	88	1	0	0	0	0	1	0	0	0	2431	1290	45	2	104	2	C7orf66	7	108524165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	368609	108524165	50614498	8460	16172											
LRRN3	54674	broad.mit.edu	37	chr7	110762985	110762985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttatatggaagcatctacaGtggattgtaatgatttaggt	10	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:110762985G>T	ENST00000451085.1	+	4	1203	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.V53L|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.V53L|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	53	LRRNT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCATCTACAGTGGATTGTAA	0.378													False	0	False	7:110762985	0	T	110762985	G	T	110762985	3	4	88	1	0	0	0	0	1	0	0	0	9098	1029	36	3	159	3	LRRN3	7	110762985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2238820	110762985	48375678	8461	16173											
DOCK4	9732	broad.mit.edu	37	chr7	111379299	111379299	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagacaacaaaggagaaGctgggaagagaaggagagag	16	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111379299G>A	ENST00000428084.1	-	49	5395	c.5123C>T	c.(5122-5124)gCt>gTt	p.A1708V	DOCK4_ENST00000437633.1_Splice_Site_p.A1699V|DOCK4_ENST00000494651.2_Splice_Site_p.A582V			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1699	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CAAAGGAGAAGCTGGGAAGAG	0.527													False	0	False	7:111379299	0	A	111379299	G	A	111379299	5	1	88	1	0	0	0	0	0	0	1	0	4719	985	34	2	824	2	DOCK4	7	111379299	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	616314	111379299	47759364	8462	16174											
DOCK4	9732	broad.mit.edu	37	chr7	111381614	111381614	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgcgtctaggaattaccCtggtaccatctgggctcaca	9	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111381614C>A	ENST00000428084.1	-	46	5173	c.4901G>T	c.(4900-4902)aGg>aTg	p.R1634M	DOCK4_ENST00000437633.1_Missense_Mutation_p.R1625M|DOCK4_ENST00000494651.2_Missense_Mutation_p.R508M			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1625					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGGAATTACCCTGGTACCATC	0.463													False	0	True	7:111381614	0	A	111381614	C	A	111381614	3	1	88	1	0	0	0	0	1	0	0	0	4719	681	24	3	1058	3	DOCK4	7	111381614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2315	111381614	47757049	8463	16175											
DOCK4	9732	broad.mit.edu	37	chr7	111386404	111386404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacctgctcaagcatcaGctctcttaatcgtgcaattt	5	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111386404G>A	ENST00000428084.1	-	44	4935	c.4663C>T	c.(4663-4665)Ctg>Ttg	p.L1555L	DOCK4_ENST00000437633.1_Silent_p.L1546L|DOCK4_ENST00000494651.2_Silent_p.L429L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1546	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCAAGCATCAGCTCTCTTAAT	0.448													False	0	True	7:111386404	0	A	111386404	G	A	111386404	2	1	88	1	0	0	0	0	0	0	0	1	4719	962	34	2		2	DOCK4	7	111386404	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4790	111386404	47752259	8464	16176											
DOCK4	9732	broad.mit.edu	37	chr7	111422941	111422941	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaggctaactgtgcagccAatctttttgccatctacctc	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111422941A>G	ENST00000428084.1	-	35	3836	c.3564T>C	c.(3562-3564)atT>atC	p.I1188I	DOCK4_ENST00000437633.1_Silent_p.I1179I|DOCK4_ENST00000494651.2_Silent_p.I62I			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1179	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTGTGCAGCCAATCTTTTTGC	0.383													False	0	False	7:111422941	0	G	111422941	A	G	111422941	2	3	88	1	0	0	0	0	0	0	0	1	4719	126	5	4		4	DOCK4	7	111422941	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36537	111422941	47715722	8465	16177											
DOCK4	9732	broad.mit.edu	37	chr7	111484842	111484842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatcctggaactggaaccGcattgctgagctggatggct	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111484842G>A	ENST00000428084.1	-	25	2985	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W	DOCK4_ENST00000437633.1_Missense_Mutation_p.R905W			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	905					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AACTGGAACCGCATTGCTGAG	0.512													False	0	False	7:111484842	0	A	111484842	G	A	111484842	3	1	88	1	0	0	0	0	1	0	0	0	4719	1086	38	1	3299	1	DOCK4	7	111484842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61901	111484842	47653821	8466	16178											
DOCK4	9732	broad.mit.edu	37	chr7	111508079	111508079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaccctttgctctcttgCgaaagaaagaaacggactga	9	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111508079C>T	ENST00000428084.1	-	22	2513	c.2241G>A	c.(2239-2241)tcG>tcA	p.S747S	DOCK4_ENST00000437633.1_Silent_p.S747S|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	747					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGCTCTCTTGCGAAAGAAAGA	0.423													False	0	True	7:111508079	0	T	111508079	C	T	111508079	2	4	88	1	0	0	0	0	0	0	0	1	4719	755	27	1		1	DOCK4	7	111508079	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23237	111508079	47630584	8467	16179											
DOCK4	9732	broad.mit.edu	37	chr7	111575597	111575597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcccatacactcacctGcattggagccagtcaagtta	8	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111575597G>A	ENST00000428084.1	-	12	1336	c.1064C>T	c.(1063-1065)gCa>gTa	p.A355V	DOCK4_ENST00000437633.1_Missense_Mutation_p.A355V|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	355					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACACTCACCTGCATTGGAGCC	0.408													False	0	False	7:111575597	0	A	111575597	G	A	111575597	3	1	88	1	0	0	0	0	1	0	0	0	4719	1319	46	2	5000	2	DOCK4	7	111575597	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67518	111575597	47563066	8468	16180											
DOCK4	9732	broad.mit.edu	37	chr7	111617186	111617186	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctatctccacgtgcaggtaCctgattggccggttctcttt	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111617186C>T	ENST00000428084.1	-	8	974		c.e8+1		DOCK4_ENST00000437633.1_Splice_Site|DOCK4_ENST00000476846.1_Splice_Site			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4						cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CGTGCAGGTACCTGATTGGCC	0.423													False	0	False	7:111617186	0	T	111617186	C	T	111617186	5	4	88	1	0	0	0	0	0	0	1	0	4719	521	18	2	5378	2	DOCK4	7	111617186	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41589	111617186	47521477	8469	16181											
ZNF277	11179	broad.mit.edu	37	chr7	111936363	111936363	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcttcagaaacagagActggtaagaattgtttttaa	10	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111936363A>G	ENST00000361822.3	+	4	591	c.462A>G	c.(460-462)agA>agG	p.R154R	ZNF277_ENST00000450657.1_Silent_p.R154R	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	154						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AGAAACAGAGACTGGTAAGAA	0.274													False	0	False	7:111936363	0	G	111936363	A	G	111936363	2	3	88	1	0	0	0	0	0	0	0	1	17895	272	10	4		4	ZNF277	7	111936363	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	319177	111936363	47202300	8470	16182											
ZNF277	11179	broad.mit.edu	37	chr7	111979911	111979911	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttaggatgcacacgaatTtgatcttctcaaaataaagt	6	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111979911T>G	ENST00000361822.3	+	10	1109	c.980T>G	c.(979-981)tTt>tGt	p.F327C	AC004112.4_ENST00000431064.1_RNA|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	327						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCACACGAATTTGATCTTCTC	0.313													False	0	True	7:111979911	0	G	111979911	T	G	111979911	3	3	88	1	0	0	0	0	1	0	0	0	17895	1841	64	4	1018	4	ZNF277	7	111979911	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43548	111979911	47158752	8471	16183											
IFRD1	3475	broad.mit.edu	37	chr7	112095820	112095820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcttttacctaataggtGgccagcatcgaaatgttcag	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112095820G>A	ENST00000403825.3	+	2	358	c.97G>A	c.(97-99)Ggc>Agc	p.G33S	IFRD1_ENST00000429071.1_Missense_Mutation_p.G33S|IFRD1_ENST00000005558.4_Missense_Mutation_p.G33S|IFRD1_ENST00000535603.1_5'UTR	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	33					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCTAATAGGTGGCCAGCATCG	0.338													False	0	False	7:112095820	0	A	112095820	G	A	112095820	3	1	88	1	0	0	0	0	1	0	0	0	7603	1348	47	2	103	2	IFRD1	7	112095820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115909	112095820	47042843	8472	16184											
IFRD1	3475	broad.mit.edu	37	chr7	112095877	112095877	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgcatcaattgaaacaatgAgccattgcagtggttatagc	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112095877A>T	ENST00000403825.3	+	2	415	c.154A>T	c.(154-156)Agc>Tgc	p.S52C	IFRD1_ENST00000429071.1_Missense_Mutation_p.S52C|IFRD1_ENST00000005558.4_Missense_Mutation_p.S52C|IFRD1_ENST00000535603.1_Missense_Mutation_p.S2C	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	52					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TGAAACAATGAGCCATTGCAG	0.358													False	0	False	7:112095877	0	T	112095877	A	T	112095877	3	4	88	1	0	0	0	0	1	0	0	0	7603	304	11	5	160	5	IFRD1	7	112095877	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57	112095877	47042786	8473	16185											
IFRD1	3475	broad.mit.edu	37	chr7	112112901	112112901	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgcttaaaacgatgaagatTtctcgtttcgaaagggtagg	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112112901T>G	ENST00000403825.3	+	11	1512	c.1251T>G	c.(1249-1251)atT>atG	p.I417M	IFRD1_ENST00000005558.4_Missense_Mutation_p.I417M|IFRD1_ENST00000535603.1_Missense_Mutation_p.I367M	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	417					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CGATGAAGATTTCTCGTTTCG	0.373													False	0	True	7:112112901	0	G	112112901	T	G	112112901	3	3	88	1	0	0	0	0	1	0	0	0	7603	1829	64	4	1293	4	IFRD1	7	112112901	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17024	112112901	47025762	8474	16186											
TMEM168	64418	broad.mit.edu	37	chr7	112423788	112423788	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcccaaaatcgctgttgcaaGaagactaaagaacaccaact	6	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112423788G>A	ENST00000312814.6	-	2	1653	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L365F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GCTGTTGCAAGAAGACTAAAG	0.413													False	0	False	7:112423788	0	A	112423788	G	A	112423788	3	1	88	1	0	0	0	0	1	0	0	0	16165	942	33	2	1016	2	TMEM168	7	112423788	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	310887	112423788	46714875	8475	16187											
TMEM168	64418	broad.mit.edu	37	chr7	112424589	112424589	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcaagaatccaaaccAaagattggagagacttaaac	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112424589A>G	ENST00000312814.6	-	2	852	c.292T>C	c.(292-294)Tgg>Cgg	p.W98R	TMEM168_ENST00000454074.1_Missense_Mutation_p.W98R	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AATCCAAACCAAAGATTGGAG	0.323													False	0	True	7:112424589	0	G	112424589	A	G	112424589	3	3	88	1	0	0	0	0	1	0	0	0	16165	130	5	4	1817	4	TMEM168	7	112424589	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	801	112424589	46714074	8476	16188											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519452	113519452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcggtatgttcgctcagCagagtagccaggtctctgtt	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113519452C>T	ENST00000284601.3	-	4	1763	c.1695G>A	c.(1693-1695)ctG>ctA	p.L565L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	565					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTTCGCTCAGCAGAGTAGCCA	0.458													False	0	False	7:113519452	0	T	113519452	C	T	113519452	2	4	88	1	0	0	0	0	0	0	0	1	12445	697	25	2		2	PPP1R3A	7	113519452	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1094863	113519452	45619211	8477	16189											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519685	113519685	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgacgtatctgaatggaaatCtcttcgtaaacatcccaaat	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113519685C>A	ENST00000284601.3	-	4	1530	c.1462G>T	c.(1462-1464)Gat>Tat	p.D488Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	488					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAATGGAAATCTCTTCGTAAA	0.363													False	0	False	7:113519685	0	A	113519685	C	A	113519685	3	1	88	1	0	0	0	0	1	0	0	0	12445	913	32	3	1910	3	PPP1R3A	7	113519685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233	113519685	45618978	8478	16190											
PPP1R3A	5506	broad.mit.edu	37	chr7	113522121	113522121	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaattctttttcattatgTtcatcatgttccctgtttac	3	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113522121T>C	ENST00000284601.3	-	3	1007	c.939A>G	c.(937-939)gaA>gaG	p.E313E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	313					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCATTATGTTCATCATGTT	0.383													False	0	False	7:113522121	0	C	113522121	T	C	113522121	2	2	88	1	0	0	0	0	0	0	0	1	12445	1722	60	4		4	PPP1R3A	7	113522121	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2436	113522121	45616542	8479	16191											
FOXP2	93986	broad.mit.edu	37	chr7	114282577	114282577	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacctcactactaacaattcCtcctcgactacctcctccaa	2	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114282577C>A	ENST00000393500.3	+	13	1483	c.663C>A	c.(661-663)tcC>tcA	p.S221S	FOXP2_ENST00000350908.4_Silent_p.S296S|FOXP2_ENST00000408937.3_Silent_p.S321S|FOXP2_ENST00000393489.3_Silent_p.S204S|FOXP2_ENST00000393491.3_Silent_p.S204S|FOXP2_ENST00000393498.2_Silent_p.S275S|FOXP2_ENST00000403559.4_Silent_p.S313S|FOXP2_ENST00000378237.3_Silent_p.S296S|FOXP2_ENST00000360232.4_Silent_p.S296S|FOXP2_ENST00000390668.3_Silent_p.S320S|FOXP2_ENST00000393494.2_Silent_p.S296S			O15409	FOXP2_HUMAN	forkhead box P2	296	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTAACAATTCCTCCTCGACTA	0.443													False	0	False	7:114282577	0	A	114282577	C	A	114282577	2	1	88	1	0	0	0	0	0	0	0	1	6069	668	24	3		3	FOXP2	7	114282577	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	760456	114282577	44856086	8480	16192											
MDFIC	29969	broad.mit.edu	37	chr7	114619758	114619759	+	Frame_Shift_Ins	INS	-	-	AAAGAAAAAGAAATTAATA													tagaaaaattcagtccagctINStgtctgtaaacagcgatatc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114619758_114619759insAAAGAAAAAGAAATTAATA	ENST00000393486.1	+	4	1005_1006	c.415_416insAAAGAAAAAGAAATTAATA	c.(415-417)ttgfs	p.L139fs	MDFIC_ENST00000257724.3_Frame_Shift_Ins_p.L248fs	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	139					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						TCAGTCCAGCTTGTCTGTAAAC	0.406													False	0	False	7:114619758	0	AAAGAAAAAGAAATTAATA	114619759	-	AAAGAAAAAGAAATTAATA	114619758	7	5	88	1	0	1	1	0	0	0	0	0	9472	1606	56	0	798	0	MDFIC	7	114619758	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	337181	114619758	44518905	8481	16193											
MDFIC	29969	broad.mit.edu	37	chr7	114655944	114655944	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtgaatcatcagactgCttggaaatctgtatggaatg	11	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114655944C>A	ENST00000393486.1	+	5	1286	c.696C>A	c.(694-696)tgC>tgA	p.C232*	MDFIC_ENST00000257724.3_Nonsense_Mutation_p.C341*	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	232	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CATCAGACTGCTTGGAAATCT	0.403													False	0	False	7:114655944	0	A	114655944	C	A	114655944	4	1	88	1	0	0	0	0	0	1	0	0	9472	805	28	3	1083	3	MDFIC	7	114655944	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36186	114655944	44482719	8482	16194											
TFEC	22797	broad.mit.edu	37	chr7	115580909	115580909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggctctgctgtttggtgAcatgagcacctaaatcaacc	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115580909A>G	ENST00000265440.7	-	8	920	c.740T>C	c.(739-741)gTc>gCc	p.V247A	TFEC_ENST00000320239.7_Missense_Mutation_p.V218A|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000457268.1_Missense_Mutation_p.V180A	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	247						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTGTTTGGTGACATGAGCACC	0.468													False	0	False	7:115580909	0	G	115580909	A	G	115580909	3	3	88	1	0	0	0	0	1	0	0	0	15884	275	10	4	307	4	TFEC	7	115580909	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	924965	115580909	43557754	8483	16195											
TFEC	22797	broad.mit.edu	37	chr7	115580986	115580986	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagcctgaatttctagttcCtgtaatttcaaacgaaaatc	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115580986C>A	ENST00000265440.7	-	8	844		c.e8-1		TFEC_ENST00000320239.7_Splice_Site|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000457268.1_Splice_Site	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TTTCTAGTTCCTGTAATTTCA	0.378													False	0	False	7:115580986	0	A	115580986	C	A	115580986	5	1	88	1	0	0	0	0	0	0	1	0	15884	695	24	3	384	3	TFEC	7	115580986	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	115580986	43557677	8484	16196											
TFEC	22797	broad.mit.edu	37	chr7	115582018	115582018	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccaattctcgggctcTctgttgttctttttgtagcc	9	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115582018T>G	ENST00000265440.7	-	7	772	c.592A>C	c.(592-594)Aga>Cga	p.R198R	TFEC_ENST00000320239.7_Silent_p.R169R|TFEC_ENST00000393485.1_Silent_p.R169R|TFEC_ENST00000484212.1_Silent_p.R288R|TFEC_ENST00000457268.1_Silent_p.R131R	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCTCGGGCTCTCTGTTGTTCT	0.418													False	0	True	7:115582018	0	G	115582018	T	G	115582018	2	3	88	1	0	0	0	0	0	0	0	1	15884	1559	54	4		4	TFEC	7	115582018	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1032	115582018	43556645	8485	16197											
TFEC	22797	broad.mit.edu	37	chr7	115614303	115614303	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgattatatcctcaataacgTcctccatctagcaaaatata	3	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115614303T>C	ENST00000265440.7	-	3	368	c.188A>G	c.(187-189)gAc>gGc	p.D63G	TFEC_ENST00000320239.7_Intron|TFEC_ENST00000393485.1_Intron|TFEC_ENST00000484212.1_Missense_Mutation_p.D153G	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	63	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTCAATAACGTCCTCCATCTA	0.343													False	0	False	7:115614303	0	C	115614303	T	C	115614303	3	2	88	1	0	0	0	0	1	0	0	0	15884	1667	58	4	879	4	TFEC	7	115614303	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32285	115614303	43524360	8486	16198											
MET	0	broad.mit.edu	37	chr7	116339490	116339490	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggaaagataacatcaacAtggctctagttgtcgacacc	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116339490A>C	ENST00000397752.3	+	2	552	c.352A>C	c.(352-354)Atg>Ctg	p.M118L	MET_ENST00000318493.6_Missense_Mutation_p.M118L|MET_ENST00000436117.2_Missense_Mutation_p.M118L	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	118	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAACATCAACATGGCTCTAGT	0.488			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				False	0	False	7:116339490	0	C	116339490	A	C	116339490	3	2	88	1	0	0	0	0	1	0	0	0	9552	217	8	4	354	4	MET	7	116339490	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	725187	116339490	42799173	8487	16199											
MET	0	broad.mit.edu	37	chr7	116340022	116340022	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcattcctacatggaaatgcCtctggagtgtattctcacag	9	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116340022C>A	ENST00000397752.3	+	2	1084	c.884C>A	c.(883-885)cCt>cAt	p.P295H	MET_ENST00000318493.6_Missense_Mutation_p.P295H|MET_ENST00000436117.2_Missense_Mutation_p.P295H	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	295	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATGGAAATGCCTCTGGAGTGT	0.428			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				False	0	False	7:116340022	0	A	116340022	C	A	116340022	3	1	88	1	0	0	0	0	1	0	0	0	9552	681	24	3	886	3	MET	7	116340022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	532	116340022	42798641	8488	16200											
MET	0	broad.mit.edu	37	chr7	116381004	116381004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagtgtggctggtgccaCgacaaatgtgtgcgatcgga	15	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116381004C>T	ENST00000397752.3	+	5	1826	c.1626C>T	c.(1624-1626)caC>caT	p.H542H	MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Silent_p.H542H|MET_ENST00000436117.2_Silent_p.H542H	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	542					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GCTGGTGCCACGACAAATGTG	0.522			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				False	0	False	7:116381004	0	T	116381004	C	T	116381004	2	4	88	1	0	0	0	0	0	0	0	1	9552	535	19	1		1	MET	7	116381004	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40982	116381004	42757659	8489	16201											
MET	0	broad.mit.edu	37	chr7	116403139	116403139	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctaattcagagataatctgTtgtaccactccttccctgca	5	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116403139T>C	ENST00000397752.3	+	11	2600	c.2400T>C	c.(2398-2400)tgT>tgC	p.C800C	MET_ENST00000318493.6_Silent_p.C818C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	800	IPT/TIG 3.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGATAATCTGTTGTACCACTC	0.408			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				False	0	False	7:116403139	0	C	116403139	T	C	116403139	2	2	88	1	0	0	0	0	0	0	0	1	9552	1731	60	4		4	MET	7	116403139	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22135	116403139	42735524	8490	16202											
MET	0	broad.mit.edu	37	chr7	116411905	116411905	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttctctctgttttaagatCtgggcagtgaattagttcgc	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116411905C>A	ENST00000397752.3	+	14	3090	c.2890C>A	c.(2890-2892)Ctg>Atg	p.L964M	MET_ENST00000318493.6_Missense_Mutation_p.L982M	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	964					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTTTTAAGATCTGGGCAGTGA	0.458			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				False	0	False	7:116411905	0	A	116411905	C	A	116411905	3	1	88	1	0	0	0	0	1	0	0	0	9552	912	32	3	2994	3	MET	7	116411905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8766	116411905	42726758	8491	16203											
MET	0	broad.mit.edu	37	chr7	116415084	116415084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgacctcagtgctctaaatCcagagctggtccaggcagtg	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116415084C>T	ENST00000397752.3	+	15	3378	c.3178C>T	c.(3178-3180)Cca>Tca	p.P1060S	MET_ENST00000318493.6_Missense_Mutation_p.P1078S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1060					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGCTCTAAATCCAGAGCTGGT	0.473			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				False	0	False	7:116415084	0	T	116415084	C	T	116415084	3	4	88	1	0	0	0	0	1	0	0	0	9552	855	30	2	3286	2	MET	7	116415084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3179	116415084	42723579	8492	16204											
WNT2	7472	broad.mit.edu	37	chr7	116937895	116937895	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgagccgctcaccccgtgGcacttgcactcttgtttcaa	8	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116937895G>A	ENST00000265441.3	-	4	923	c.624C>T	c.(622-624)tgC>tgT	p.C208C		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	208					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCACCCCGTGGCACTTGCACT	0.547													False	0	False	7:116937895	0	A	116937895	G	A	116937895	2	1	88	1	0	0	0	0	0	0	0	1	17470	1195	42	2		2	WNT2	7	116937895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	522811	116937895	42200768	8493	16205											
WNT2	7472	broad.mit.edu	37	chr7	116937921	116937921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactcttgtttcaagaaccGctttacagcctgccgaaaaa	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116937921G>A	ENST00000265441.3	-	4	897	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	200					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTCAAGAACCGCTTTACAGCC	0.537													False	0	False	7:116937921	0	A	116937921	G	A	116937921	3	1	88	1	0	0	0	0	1	0	0	0	17470	1086	38	1	492	1	WNT2	7	116937921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	116937921	42200742	8494	16206											
WNT2	7472	broad.mit.edu	37	chr7	116960776	116960776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcggtgacacagctgcCgctggctgctcaccaggcct	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116960776C>T	ENST00000265441.3	-	2	454	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	52					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACACAGCTGCCGCTGGCTGCT	0.597													False	0	True	7:116960776	0	T	116960776	C	T	116960776	3	4	88	1	0	0	0	0	1	0	0	0	17470	652	23	1	943	1	WNT2	7	116960776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22855	116960776	42177887	8495	16207											
CFTR	1080	broad.mit.edu	37	chr7	117304863	117304863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggctagatctgttctcaGtaaggcgaagatcttgctgc	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117304863G>A	ENST00000003084.6	+	25	4217	c.4085G>A	c.(4084-4086)aGt>aAt	p.S1362N	CFTR_ENST00000454343.1_Missense_Mutation_p.S1301N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1362	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTGTTCTCAGTAAGGCGAAG	0.473									Cystic Fibrosis				False	0	False	7:117304863	0	A	117304863	G	A	117304863	3	1	88	1	0	0	0	0	1	0	0	0	3317	1029	36	2	4183	2	CFTR	7	117304863	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	344087	117304863	41833800	8496	16208											
CTTNBP2	83992	broad.mit.edu	37	chr7	117361139	117361139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttttgttttgacagagaaGcattcctgttacaattcagc	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117361139G>A	ENST00000160373.3	-	20	4584	c.4493C>T	c.(4492-4494)gCt>gTt	p.A1498V		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1498										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGACAGAGAAGCATTCCTGTT	0.303													False	0	False	7:117361139	0	A	117361139	G	A	117361139	3	1	88	1	0	0	0	0	1	0	0	0	4070	971	34	2	514	2	CTTNBP2	7	117361139	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56276	117361139	41777524	8497	16209											
CTTNBP2	83992	broad.mit.edu	37	chr7	117368189	117368189	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactacaggacaagacaggaAatattttggtccaagaagtg	10	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117368189A>G	ENST00000160373.3	-	17	4100	c.4009T>C	c.(4009-4011)Ttc>Ctc	p.F1337L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1337										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAAGACAGGAAATATTTTGGT	0.498													False	0	True	7:117368189	0	G	117368189	A	G	117368189	3	3	88	1	0	0	0	0	1	0	0	0	4070	14	1	4	1010	4	CTTNBP2	7	117368189	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7050	117368189	41770474	8498	16210											
CTTNBP2	83992	broad.mit.edu	37	chr7	117400555	117400555	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagtggtgttattgcaagTcacgtcttccagactccacc	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117400555T>G	ENST00000160373.3	-	10	3197	c.3106A>C	c.(3106-3108)Act>Cct	p.T1036P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1036										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTATTGCAAGTCACGTCTTCC	0.453													False	0	False	7:117400555	0	G	117400555	T	G	117400555	3	3	88	1	0	0	0	0	1	0	0	0	4070	1667	58	4	1941	4	CTTNBP2	7	117400555	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32366	117400555	41738108	8499	16211											
CTTNBP2	83992	broad.mit.edu	37	chr7	117417759	117417759	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtattctatggtacataaGaagcttgaggctgtccacat	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117417759G>A	ENST00000160373.3	-	8	2675	c.2584C>T	c.(2584-2586)Ctt>Ttt	p.L862F		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	862										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGGTACATAAGAAGCTTGAGG	0.468													False	0	False	7:117417759	0	A	117417759	G	A	117417759	3	1	88	1	0	0	0	0	1	0	0	0	4070	942	33	2	2471	2	CTTNBP2	7	117417759	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17204	117417759	41720904	8500	16212											
CTTNBP2	83992	broad.mit.edu	37	chr7	117420533	117420533	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attggttccagcttccaacaAgagtttaatacattctttat	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117420533A>T	ENST00000160373.3	-	7	2576	c.2485T>A	c.(2485-2487)Ttg>Atg	p.L829M		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	829										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCTTCCAACAAGAGTTTAATA	0.343													False	0	False	7:117420533	0	T	117420533	A	T	117420533	3	4	88	1	0	0	0	0	1	0	0	0	4070	69	3	5	2574	5	CTTNBP2	7	117420533	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2774	117420533	41718130	8501	16213											
NAA38	51691	broad.mit.edu	37	chr7	117828431	117828431	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtagaacaagtggtactaGgattatacattgtaagaggt	13	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117828431G>T	ENST00000424702.1	+	3	252	c.172G>T	c.(172-174)Gga>Tga	p.G58*	NAA38_ENST00000249299.2_Nonsense_Mutation_p.G58*|NAA38_ENST00000422760.1_Nonsense_Mutation_p.G37*			O95777	NAA38_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	58					nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGTGGTACTAGGATTATACAT	0.368													False	0	False	7:117828431	0	T	117828431	G	T	117828431	4	4	88	1	0	0	0	0	0	1	0	0	10191	1001	35	3	182	3	NAA38	7	117828431	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407898	117828431	41310232	8502	16214											
KCND2	3751	broad.mit.edu	37	chr7	119915287	119915287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgccgtctctgtcatcGcgaatgtggtggaaacagtg	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:119915287G>A	ENST00000331113.4	+	1	1566	c.601G>A	c.(601-603)Gcg>Acg	p.A201T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	201					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CTCTGTCATCGCGAATGTGGT	0.562													False	0	False	7:119915287	0	A	119915287	G	A	119915287	3	1	88	1	0	0	0	0	1	0	0	0	8069	1087	38	1	603	1	KCND2	7	119915287	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2086856	119915287	39223376	8503	16215											
KCND2	3751	broad.mit.edu	37	chr7	119915676	119915676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggcttcttgcttttctcGctcaccatggctatcatcat	7	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:119915676G>A	ENST00000331113.4	+	1	1955	c.990G>A	c.(988-990)tcG>tcA	p.S330S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	330					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TGCTTTTCTCGCTCACCATGG	0.502													False	0	False	7:119915676	0	A	119915676	G	A	119915676	2	1	88	1	0	0	0	0	0	0	0	1	8069	1074	38	1		1	KCND2	7	119915676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389	119915676	39222987	8504	16216											
PTPRZ1	5803	broad.mit.edu	37	chr7	121568253	121568253	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caacagagaaaacttgttgaAgagattggctggtcctatac	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121568253A>C	ENST00000393386.2	+	2	513	c.102A>C	c.(100-102)gaA>gaC	p.E34D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E34D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	34					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AACTTGTTGAAGAGATTGGCT	0.274													False	0	False	7:121568253	0	C	121568253	A	C	121568253	3	2	88	1	0	0	0	0	1	0	0	0	12893	69	3	4	108	4	PTPRZ1	7	121568253	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1652577	121568253	37570410	8505	16217											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652806	121652806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcaagtgaaaacatgCtgcactctacatctgtacca	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121652806C>T	ENST00000393386.2	+	12	4117	c.3706C>T	c.(3706-3708)Ctg>Ttg	p.L1236L	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1236					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAAAACATGCTGCACTCTAC	0.388													False	0	False	7:121652806	0	T	121652806	C	T	121652806	2	4	88	1	0	0	0	0	0	0	0	1	12893	796	28	2		2	PTPRZ1	7	121652806	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84553	121652806	37485857	8506	16218											
PTPRZ1	5803	broad.mit.edu	37	chr7	121659225	121659225	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtattggtctagctgaggggTtggaatccgagaagaaggca	16	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121659225T>G	ENST00000393386.2	+	13	5302	c.4891T>G	c.(4891-4893)Ttg>Gtg	p.L1631V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L771V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1631					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGCTGAGGGGTTGGAATCCGA	0.438													False	0	True	7:121659225	0	G	121659225	T	G	121659225	3	3	88	1	0	0	0	0	1	0	0	0	12893	1722	60	4	4941	4	PTPRZ1	7	121659225	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6419	121659225	37479438	8507	16219											
AASS	10157	broad.mit.edu	37	chr7	121726195	121726195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaatccatggacgtaacGgcatcaagaaaggagatgcc	10	8	1	2	rs145793131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121726195G>A	ENST00000393376.1	-	18	2150	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.A685A			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	685	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGGACGTAACGGCATCAAGAA	0.423													False	0	False	7:121726195	0	A	121726195	G	A	121726195	2	1	88	1	0	0	0	0	0	0	0	1	24	1103	39	1		1	AASS	7	121726195	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66970	121726195	37412468	8508	16220											
AASS	10157	broad.mit.edu	37	chr7	121738597	121738597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattaatattatatttcttgCctaactgttcaatttgattc	4	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121738597C>A	ENST00000393376.1	-	14	1657	c.1562G>T	c.(1561-1563)gGc>gTc	p.G521V	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.G521V			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	521	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATATTTCTTGCCTAACTGTTC	0.323													False	0	False	7:121738597	0	A	121738597	C	A	121738597	3	1	88	1	0	0	0	0	1	0	0	0	24	739	26	3	1258	3	AASS	7	121738597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12402	121738597	37400066	8509	16221											
AASS	10157	broad.mit.edu	37	chr7	121753177	121753177	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taccagtctgcttaccatttCttcaacataagggtaaagca	6	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121753177C>A	ENST00000393376.1	-	10	1368	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Nonsense_Mutation_p.E425*			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	425	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTACCATTTCTTCAACATAA	0.398													False	0	True	7:121753177	0	A	121753177	C	A	121753177	4	1	88	1	0	0	0	0	0	1	0	0	24	922	32	3	1563	3	AASS	7	121753177	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14580	121753177	37385486	8510	16222											
AASS	10157	broad.mit.edu	37	chr7	121769556	121769556	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attagacaagcttcagaaatAtcctcctgaagaatgccacc	6	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121769556A>G	ENST00000393376.1	-	2	341	c.246T>C	c.(244-246)gaT>gaC	p.D82D	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.D82D			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	82	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTCAGAAATATCCTCCTGAA	0.343													False	0	False	7:121769556	0	G	121769556	A	G	121769556	2	3	88	1	0	0	0	0	0	0	0	1	24	446	16	4		4	AASS	7	121769556	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16379	121769556	37369107	8511	16223											
FEZF1	389549	broad.mit.edu	37	chr7	121944232	121944232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggagcccgtcactcctgccTtggggctcgtgtcgtaggcc	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121944232T>C	ENST00000442488.2	-	1	327	c.260A>G	c.(259-261)aAg>aGg	p.K87R	FEZF1_ENST00000427185.2_Missense_Mutation_p.K87R|FEZF1_ENST00000331178.4_Missense_Mutation_p.K87R|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	87					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CACTCCTGCCTTGGGGCTCGT	0.687													False	0	False	7:121944232	0	C	121944232	T	C	121944232	3	2	88	1	0	0	0	0	1	0	0	0	5865	1609	56	4	1183	4	FEZF1	7	121944232	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174676	121944232	37194431	8512	16224											
FEZF1	389549	broad.mit.edu	37	chr7	121944281	121944281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggatcatgcaggggaTcgacgagttgagatgcagag	18	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121944281T>C	ENST00000442488.2	-	1	278	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	FEZF1_ENST00000427185.2_Missense_Mutation_p.I71V|FEZF1_ENST00000331178.4_Missense_Mutation_p.I71V|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	71					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ATGCAGGGGATCGACGAGTTG	0.677													False	0	False	7:121944281	0	C	121944281	T	C	121944281	3	2	88	1	0	0	0	0	1	0	0	0	5865	1435	50	4	1232	4	FEZF1	7	121944281	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49	121944281	37194382	8513	16225											
CADPS2	93664	broad.mit.edu	37	chr7	122091518	122091518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccactgaaacagtcccaAttccatcaggcctgaaaaaa	5	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122091518A>G	ENST00000334010.7	-	14	2622	c.2201T>C	c.(2200-2202)aTt>aCt	p.I734T	CADPS2_ENST00000313070.7_Missense_Mutation_p.I730T|CADPS2_ENST00000412584.2_Missense_Mutation_p.I730T|CADPS2_ENST00000449022.2_Missense_Mutation_p.I733T	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	733					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AACAGTCCCAATTCCATCAGG	0.284													False	0	False	7:122091518	0	G	122091518	A	G	122091518	3	3	88	1	0	0	0	0	1	0	0	0	2591	101	4	4	1800	4	CADPS2	7	122091518	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	147237	122091518	37047145	8514	16226											
RNF148	378925	broad.mit.edu	37	chr7	122342708	122342708	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaaatggcttttccgtTtgagtcaggaaagctaagta	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122342708T>G	ENST00000434824.1	-	1	313	c.97A>C	c.(97-99)Aac>Cac	p.N33H	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.N33H	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	33						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GCTTTTCCGTTTGAGTCAGGA	0.423													False	0	True	7:122342708	0	G	122342708	T	G	122342708	3	3	88	1	0	0	0	0	1	0	0	0	13528	1841	64	4	824	4	RNF148	7	122342708	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	251190	122342708	36795955	8515	16227											
TAS2R16	50833	broad.mit.edu	37	chr7	122635033	122635033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcagtgaagcgcgctttcAtgcttggattgcagtgacca	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635033A>G	ENST00000249284.2	-	1	721	c.656T>C	c.(655-657)aTg>aCg	p.M219T		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	219					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCGCGCTTTCATGCTTGGATT	0.443													False	0	False	7:122635033	0	G	122635033	A	G	122635033	3	3	88	1	0	0	0	0	1	0	0	0	15651	217	8	4	223	4	TAS2R16	7	122635033	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	292325	122635033	36503630	8516	16228											
TAS2R16	50833	broad.mit.edu	37	chr7	122635261	122635261	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtaattcccaatagctgaaGggatgattgttacacaagta	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635261G>T	ENST00000249284.2	-	1	493	c.428C>A	c.(427-429)cCt>cAt	p.P143H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	143					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATAGCTGAAGGGATGATTGT	0.388													False	0	True	7:122635261	0	T	122635261	G	T	122635261	3	4	88	1	0	0	0	0	1	0	0	0	15651	1000	35	3	451	3	TAS2R16	7	122635261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	228	122635261	36503402	8517	16229											
TAS2R16	50833	broad.mit.edu	37	chr7	122635379	122635379	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaagagaccttgatgcAgtagaacacggtaagcaagc	12	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635379A>G	ENST00000249284.2	-	1	375	c.310T>C	c.(310-312)Tgc>Cgc	p.C104R		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	104					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACCTTGATGCAGTAGAACACG	0.373													False	0	False	7:122635379	0	G	122635379	A	G	122635379	3	3	88	1	0	0	0	0	1	0	0	0	15651	188	7	4	569	4	TAS2R16	7	122635379	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	118	122635379	36503284	8518	16230											
SLC13A1	6561	broad.mit.edu	37	chr7	122763231	122763231	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaagaatggctatatcCcagggcatgaatgactggaa	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122763231C>T	ENST00000194130.2	-	12	1338	c.1299G>A	c.(1297-1299)tgG>tgA	p.W433*	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	433						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGGCTATATCCCAGGGCATGA	0.378													False	0	True	7:122763231	0	T	122763231	C	T	122763231	4	4	88	1	0	0	0	0	0	1	0	0	14472	624	22	2	504	2	SLC13A1	7	122763231	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127852	122763231	36375432	8519	16231											
SLC13A1	6561	broad.mit.edu	37	chr7	122787315	122787315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacaaacacgtaagtttaCgtgtcacgtggcccttcttt	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122787315C>T	ENST00000194130.2	-	7	749	c.710G>A	c.(709-711)cGt>cAt	p.R237H	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	237						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CGTAAGTTTACGTGTCACGTG	0.403													False	0	False	7:122787315	0	T	122787315	C	T	122787315	3	4	88	1	0	0	0	0	1	0	0	0	14472	536	19	1	1113	1	SLC13A1	7	122787315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24084	122787315	36351348	8520	16232											
IQUB	154865	broad.mit.edu	37	chr7	123152119	123152119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattgcttttcatgatgttgCggagtatatgaaacttgtct	9	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123152119C>T	ENST00000466202.1	-	2	852	c.276G>A	c.(274-276)ccG>ccA	p.P92P	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Silent_p.P92P|IQUB_ENST00000324698.6_Silent_p.P92P	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	92										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CATGATGTTGCGGAGTATATG	0.388													False	0	False	7:123152119	0	T	123152119	C	T	123152119	2	4	88	1	0	0	0	0	0	0	0	1	7870	755	27	1		1	IQUB	7	123152119	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	364804	123152119	35986544	8521	16233											
ASB15	142685	broad.mit.edu	37	chr7	123269055	123269055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatggttttgatgtcaacaCtctacttgctgaccacattt	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123269055C>T	ENST00000451558.1	+	12	1528	c.1007C>T	c.(1006-1008)aCt>aTt	p.T336I	ASB15_ENST00000540573.1_Missense_Mutation_p.T336I|ASB15_ENST00000434204.1_Missense_Mutation_p.T336I|ASB15_ENST00000275699.3_Missense_Mutation_p.T336I|ASB15_ENST00000451215.1_Missense_Mutation_p.T336I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	336					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GATGTCAACACTCTACTTGCT	0.433													False	0	False	7:123269055	0	T	123269055	C	T	123269055	3	4	88	1	0	0	0	0	1	0	0	0	1023	565	20	2	1033	2	ASB15	7	123269055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116936	123269055	35869608	8522	16234											
ASB15	142685	broad.mit.edu	37	chr7	123269160	123269160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcacagaagtccttctggCtgcaggtgcagacccaaact	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123269160C>A	ENST00000451558.1	+	12	1633	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D	ASB15_ENST00000540573.1_Missense_Mutation_p.A371D|ASB15_ENST00000434204.1_Missense_Mutation_p.A371D|ASB15_ENST00000275699.3_Missense_Mutation_p.A371D|ASB15_ENST00000451215.1_Missense_Mutation_p.A371D			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	371					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GTCCTTCTGGCTGCAGGTGCA	0.473													False	0	False	7:123269160	0	A	123269160	C	A	123269160	3	1	88	1	0	0	0	0	1	0	0	0	1023	797	28	3	1138	3	ASB15	7	123269160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105	123269160	35869503	8523	16235											
WASL	8976	broad.mit.edu	37	chr7	123332856	123332856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaggaggaggaggaggacCtgagttgtgtggagggggag	23	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123332856C>A	ENST00000223023.4	-	9	1224	c.892G>T	c.(892-894)Ggt>Tgt	p.G298C		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	298	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ggaggaggacctgagttgtgt	0.602													False	0	False	7:123332856	0	A	123332856	C	A	123332856	3	1	88	1	0	0	0	0	1	0	0	0	17340	681	24	3	637	3	WASL	7	123332856	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63696	123332856	35805807	8524	16236											
HYAL4	23553	broad.mit.edu	37	chr7	123508656	123508656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acaaggggtccccattaatgGaggtctcccacagaacataa	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123508656G>T	ENST00000223026.4	+	3	967	c.329G>T	c.(328-330)gGa>gTa	p.G110V	HYAL4_ENST00000476325.1_Missense_Mutation_p.G110V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	110					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCCATTAATGGAGGTCTCCCA	0.428													False	0	False	7:123508656	0	T	123508656	G	T	123508656	3	4	88	1	0	0	0	0	1	0	0	0	7516	1174	41	3	331	3	HYAL4	7	123508656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	175800	123508656	35630007	8525	16237											
HYAL4	23553	broad.mit.edu	37	chr7	123516989	123516989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagttaccacatagaggCctctgaggacggggagttta	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123516989C>T	ENST00000223026.4	+	5	1864	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	HYAL4_ENST00000476325.1_Missense_Mutation_p.A409V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	409					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CACATAGAGGCCTCTGAGGAC	0.483													False	0	False	7:123516989	0	T	123516989	C	T	123516989	3	4	88	1	0	0	0	0	1	0	0	0	7516	739	26	2	1236	2	HYAL4	7	123516989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8333	123516989	35621674	8526	16238											
POT1	25913	broad.mit.edu	37	chr7	124464052	124464052	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaactgtggtgtcaaaaatCtgatagcaaatttgattatc	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124464052C>T	ENST00000357628.3	-	19	2467	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q	POT1_ENST00000393329.1_Silent_p.Q492Q	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	623					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGTCAAAAATCTGATAGCAAA	0.343													False	0	False	7:124464052	0	T	124464052	C	T	124464052	2	4	88	1	0	0	0	0	0	0	0	1	12329	912	32	2		2	POT1	7	124464052	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	947063	124464052	34674611	8527	16239											
POT1	25913	broad.mit.edu	37	chr7	124465393	124465393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcagaacttctgatgctgGaatctggaagaatttgtcct	9	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124465393G>A	ENST00000357628.3	-	18	2303	c.1705C>T	c.(1705-1707)Cca>Tca	p.P569S	POT1_ENST00000393329.1_Missense_Mutation_p.P438S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	569					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCTGATGCTGGAATCTGGAAG	0.294													False	0	False	7:124465393	0	A	124465393	G	A	124465393	3	1	88	1	0	0	0	0	1	0	0	0	12329	1174	41	2	207	2	POT1	7	124465393	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1341	124465393	34673270	8528	16240											
POT1	25913	broad.mit.edu	37	chr7	124483018	124483018	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atactgatgatctgtaagtaCtgtaaagaatttttatattc	6	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124483018C>A	ENST00000357628.3	-	13	1605		c.e13-1		POT1_ENST00000393329.1_Splice_Site	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1						DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCTGTAAGTACTGTAAAGAAT	0.318													False	0	False	7:124483018	0	A	124483018	C	A	124483018	5	1	88	1	0	0	0	0	0	0	1	0	12329	579	20	3	926	3	POT1	7	124483018	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17625	124483018	34655645	8529	16241											
GRM8	0	broad.mit.edu	37	chr7	126746697	126746697	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagtcaggcggaaccactcGagagaaaaagtcatacctgg	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:126746697G>A	ENST00000339582.2	-	3	1388	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GRM8_ENST00000405249.1_Nonsense_Mutation_p.R194*|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Nonsense_Mutation_p.R194*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.R194*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	194				R -> A (in Ref. 1; AAB72040).	negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGAACCACTCGAGAGAAAAAG	0.488										HNSCC(24;0.065)			False	0	True	7:126746697	0	A	126746697	G	A	126746697	4	1	88	1	0	0	0	0	0	1	0	0	6850	1066	37	1	2232	1	GRM8	7	126746697	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2263679	126746697	32391966	8530	16242											
ZNF800	168850	broad.mit.edu	37	chr7	127013819	127013819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgacgagtttcataagtgCaaagaggacacttgtagaat	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127013819C>T	ENST00000393313.1	-	5	2162	c.1571G>A	c.(1570-1572)tGc>tAc	p.C524Y	ZNF800_ENST00000393312.1_Missense_Mutation_p.C524Y|ZNF800_ENST00000265827.3_Missense_Mutation_p.C524Y			Q2TB10	ZN800_HUMAN	zinc finger protein 800	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTCATAAGTGCAAAGAGGACA	0.363													False	0	True	7:127013819	0	T	127013819	C	T	127013819	3	4	88	1	0	0	0	0	1	0	0	0	18251	710	25	2	431	2	ZNF800	7	127013819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267122	127013819	32124844	8531	16243											
ZNF800	168850	broad.mit.edu	37	chr7	127014200	127014200	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactgttggcagtattattaGggcctttttctcttttagag	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127014200G>T	ENST00000393313.1	-	5	1781	c.1190C>A	c.(1189-1191)cCt>cAt	p.P397H	ZNF800_ENST00000393312.1_Missense_Mutation_p.P397H|ZNF800_ENST00000265827.3_Missense_Mutation_p.P397H			Q2TB10	ZN800_HUMAN	zinc finger protein 800	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AGTATTATTAGGGCCTTTTTC	0.353													False	0	True	7:127014200	0	T	127014200	G	T	127014200	3	4	88	1	0	0	0	0	1	0	0	0	18251	1000	35	3	812	3	ZNF800	7	127014200	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	381	127014200	32124463	8532	16244											
ZNF800	168850	broad.mit.edu	37	chr7	127014937	127014937	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgacttcaataggattAtcagtcctcgaaatatattg	7	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127014937A>G	ENST00000393313.1	-	5	1044	c.453T>C	c.(451-453)gaT>gaC	p.D151D	ZNF800_ENST00000393312.1_Silent_p.D151D|ZNF800_ENST00000265827.3_Silent_p.D151D			Q2TB10	ZN800_HUMAN	zinc finger protein 800	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CAATAGGATTATCAGTCCTCG	0.368													False	0	False	7:127014937	0	G	127014937	A	G	127014937	2	3	88	1	0	0	0	0	0	0	0	1	18251	446	16	4		4	ZNF800	7	127014937	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	737	127014937	32123726	8533	16245											
ZNF800	168850	broad.mit.edu	37	chr7	127017384	127017385	+	Splice_Site	INS	-	-	AGATAATTT													tgcttaagttgtttagttccINStgagagaaaaaagaaaagaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127017384_127017385insAGATAATTT	ENST00000393313.1	-	4	749		c.e4-1		ZNF800_ENST00000265827.3_Splice_Site|ZNF800_ENST00000393312.1_Splice_Site			Q2TB10	ZN800_HUMAN	zinc finger protein 800						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGTTTAGTTCCTGAGAGAAAAA	0.322													False	0	True	7:127017384	0	AGATAATTT	127017385	-	AGATAATTT	127017384	8	5	88	1	0	1	1	0	0	0	1	0	18251	695	24	0	1849	0	ZNF800	7	127017384	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	2447	127017384	32121279	8534	16246											
GCC1	79571	broad.mit.edu	37	chr7	127223015	127223015	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgggcattatctccaggtCacagagcttctccacatcca	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127223015C>A	ENST00000321407.2	-	2	1805	c.1381G>T	c.(1381-1383)Gac>Tac	p.D461Y	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	461						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATCTCCAGGTCACAGAGCTTC	0.527													False	0	False	7:127223015	0	A	127223015	C	A	127223015	3	1	88	1	0	0	0	0	1	0	0	0	6328	826	29	3	950	3	GCC1	7	127223015	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205631	127223015	31915648	8535	16247											
GCC1	79571	broad.mit.edu	37	chr7	127224482	127224482	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcctcctgcagcagcTtctggagctcacgcagcatc	8	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127224482T>G	ENST00000321407.2	-	1	1179	c.755A>C	c.(754-756)aAg>aCg	p.K252T	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	252						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGCAGCAGCTTCTGGAGCTC	0.567											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	7:127224482	0	G	127224482	T	G	127224482	3	3	88	1	0	0	0	0	1	0	0	0	6328	1609	56	4	1580	4	GCC1	7	127224482	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1467	127224482	31914181	8536	16248											
GCC1	79571	broad.mit.edu	37	chr7	127224652	127224652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactggcatcctctaagtcCtgtttcatctttttcttgtc	5	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127224652C>T	ENST00000321407.2	-	1	1009	c.585G>A	c.(583-585)caG>caA	p.Q195Q	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	195						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCTCTAAGTCCTGTTTCATCT	0.527											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	7:127224652	0	T	127224652	C	T	127224652	2	4	88	1	0	0	0	0	0	0	0	1	6328	680	24	2		2	GCC1	7	127224652	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170	127224652	31914011	8537	16249											
GCC1	79571	broad.mit.edu	37	chr7	127225162	127225162	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggtactggagaagctgcttCttctgggtctctatagtctc	11	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127225162C>T	ENST00000321407.2	-	1	499	c.75G>A	c.(73-75)aaG>aaA	p.K25K	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	25						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAAGCTGCTTCTTCTGGGTCT	0.552											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	7:127225162	0	T	127225162	C	T	127225162	2	4	88	1	0	0	0	0	0	0	0	1	6328	912	32	2		2	GCC1	7	127225162	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510	127225162	31913501	8538	16250											
ARF5	381	broad.mit.edu	37	chr7	127230185	127230185	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatctgctgatgaactccaGaagatggtgagtacccagag	12	8	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127230185G>A	ENST00000000233.5	+	4	478	c.324G>A	c.(322-324)caG>caA	p.Q108Q	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	108					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						ATGAACTCCAGAAGATGGTGA	0.542													False	0	False	7:127230185	0	A	127230185	G	A	127230185	2	1	88	1	0	0	0	0	0	0	0	1	849	933	33	2		2	ARF5	7	127230185	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5023	127230185	31908478	8539	16251											
FSCN3	29999	broad.mit.edu	37	chr7	127235810	127235810	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagacctctacacaccacttCttgtcccatgtagaccggct	7	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127235810C>A	ENST00000265825.5	+	2	813	c.594C>A	c.(592-594)ttC>ttA	p.F198L	FSCN3_ENST00000420086.2_Missense_Mutation_p.F64L	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	198						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CACACCACTTCTTGTCCCATG	0.562													False	0	False	7:127235810	0	A	127235810	C	A	127235810	3	1	88	1	0	0	0	0	1	0	0	0	6111	912	32	3	600	3	FSCN3	7	127235810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5625	127235810	31902853	8540	16252											
FSCN3	29999	broad.mit.edu	37	chr7	127238595	127238595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagtcctgcagggggcGcttcctgggcattgcaccca	13	15	0	0	rs144391719	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127238595G>A	ENST00000265825.5	+	4	1286	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	FSCN3_ENST00000420086.2_Missense_Mutation_p.R222H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	356						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGCAGGGGGCGCTTCCTGGGC	0.582													False	0	False	7:127238595	0	A	127238595	G	A	127238595	3	1	88	1	0	0	0	0	1	0	0	0	6111	1087	38	1	1081	1	FSCN3	7	127238595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2785	127238595	31900068	8541	16253											
PAX4	5078	broad.mit.edu	37	chr7	127255125	127255125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggtagtaacgccctaggaTcttgctcacacagccattag	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127255125T>C	ENST00000341640.2	-	2	350	c.145A>G	c.(145-147)Atc>Gtc	p.I49V	PAX4_ENST00000463946.1_Missense_Mutation_p.I47V|PAX4_ENST00000378740.2_Missense_Mutation_p.I49V|PAX4_ENST00000338516.3_Missense_Mutation_p.I57V	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	57	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGCCCTAGGATCTTGCTCACA	0.582													False	0	False	7:127255125	0	C	127255125	T	C	127255125	3	2	88	1	0	0	0	0	1	0	0	0	11549	1435	50	4	918	4	PAX4	7	127255125	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16530	127255125	31883538	8542	16254											
LRRC4	64101	broad.mit.edu	37	chr7	127670198	127670198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggcacccggttgaaggCgtaagaggggatgctttcga	18	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127670198C>T	ENST00000249363.3	-	2	753	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	166						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CGGTTGAAGGCGTAAGAGGGG	0.572													False	0	False	7:127670198	0	T	127670198	C	T	127670198	3	4	88	1	0	0	0	0	1	0	0	0	9059	768	27	1	1469	1	LRRC4	7	127670198	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415073	127670198	31468465	8543	16255											
SND1	27044	broad.mit.edu	37	chr7	127727023	127727023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccacccgcctgggtaccCtatcacctgccttcagcact	6	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127727023C>A	ENST00000354725.3	+	21	2532	c.2338C>A	c.(2338-2340)Cta>Ata	p.L780I		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	780	Tudor.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCTGGGTACCCTATCACCTGC	0.597													False	0	True	7:127727023	0	A	127727023	C	A	127727023	3	1	88	1	0	0	0	0	1	0	0	0	14924	680	24	3	2420	3	SND1	7	127727023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56825	127727023	31411640	8544	16256											
RBM28	55131	broad.mit.edu	37	chr7	127954833	127954833	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgattttggggcctcGgtgtgaggggagcgccagga	17	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127954833G>A	ENST00000223073.2	-	17	2143	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Nonsense_Mutation_p.R536*	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28						mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTGGGGCCTCGGTGTGAGGGG	0.542													False	0	False	7:127954833	0	A	127954833	G	A	127954833	4	1	88	1	0	0	0	0	0	1	0	0	13207	1124	39	1	262	1	RBM28	7	127954833	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227810	127954833	31183830	8545	16257											
RBM28	55131	broad.mit.edu	37	chr7	127970908	127970908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggatgcaagacaatgcGgacatatttgagttctccaa	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127970908G>A	ENST00000223073.2	-	10	1207	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	RBM28_ENST00000415472.2_Missense_Mutation_p.R224C	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28		RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AAGACAATGCGGACATATTTG	0.468													False	0	False	7:127970908	0	A	127970908	G	A	127970908	3	1	88	1	0	0	0	0	1	0	0	0	13207	1116	39	1	1226	1	RBM28	7	127970908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16075	127970908	31167755	8546	16258											
RBM28	55131	broad.mit.edu	37	chr7	127975620	127975620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcctcttgctcctcagtgCtggtatcactctgagccagt	8	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127975620C>T	ENST00000223073.2	-	8	1037	c.923G>A	c.(922-924)aGc>aAc	p.S308N	RBM28_ENST00000415472.2_Missense_Mutation_p.S167N	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28						mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTCCTCAGTGCTGGTATCACT	0.423													False	0	False	7:127975620	0	T	127975620	C	T	127975620	3	4	88	1	0	0	0	0	1	0	0	0	13207	797	28	2	1404	2	RBM28	7	127975620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4712	127975620	31163043	8547	16259											
RBM28	55131	broad.mit.edu	37	chr7	127978382	127978382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgaacaaaaccaaaacCgcgcatcttcccatctgtgt	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127978382C>T	ENST00000223073.2	-	5	577	c.463G>A	c.(463-465)Ggt>Agt	p.G155S	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28		RRM 2.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AAACCAAAACCGCGCATCTTC	0.418													False	0	False	7:127978382	0	T	127978382	C	T	127978382	3	4	88	1	0	0	0	0	1	0	0	0	13207	652	23	1	1876	1	RBM28	7	127978382	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2762	127978382	31160281	8548	16260											
IMPDH1	3614	broad.mit.edu	37	chr7	128038646	128038646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccaccagctcatcgcaaTcattgacgataggcagcttc	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128038646T>C	ENST00000338791.6	-	10	1246	c.896A>G	c.(895-897)gAt>gGt	p.D299G	IMPDH1_ENST00000348127.6_Missense_Mutation_p.D263G|IMPDH1_ENST00000378717.4_Missense_Mutation_p.D230G|IMPDH1_ENST00000480861.1_Missense_Mutation_p.D209G|IMPDH1_ENST00000470772.1_Missense_Mutation_p.D213G|IMPDH1_ENST00000496200.1_Missense_Mutation_p.D189G|IMPDH1_ENST00000419067.2_Missense_Mutation_p.D266G|IMPDH1_ENST00000354269.5_Missense_Mutation_p.D289G|IMPDH1_ENST00000343214.4_Missense_Mutation_p.D189G	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	214					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CTCATCGCAATCATTGACGAT	0.547											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	7:128038646	0	C	128038646	T	C	128038646	3	2	88	1	0	0	0	0	1	0	0	0	7776	1435	50	4	935	4	IMPDH1	7	128038646	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	60264	128038646	31100017	8549	16261											
METTL2B	55798	broad.mit.edu	37	chr7	128119258	128119258	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactggaatgacttctacaaAatccacgaaaatgggttttt	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128119258A>C	ENST00000480046.1	+	2	169	c.54A>C	c.(52-54)aaA>aaC	p.K18N	RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000262432.8_Missense_Mutation_p.K83N			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	83							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACTTCTACAAAATCCACGAAA	0.328													False	0	True	7:128119258	0	C	128119258	A	C	128119258	3	2	88	1	0	0	0	0	1	0	0	0	9567	11	1	4	259	4	METTL2B	7	128119258	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80612	128119258	31019405	8550	16262											
METTL2B	55798	broad.mit.edu	37	chr7	128119557	128119557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatcctcagccacctaccGaatactggaggtaacctttt	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128119557G>A	ENST00000480046.1	+	2	468	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000262432.8_Missense_Mutation_p.R183Q|METTL2B_ENST00000473488.1_3'UTR			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	183							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCCACCTACCGAATACTGGAG	0.413													False	0	False	7:128119557	0	A	128119557	G	A	128119557	3	1	88	1	0	0	0	0	1	0	0	0	9567	1058	37	1	558	1	METTL2B	7	128119557	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299	128119557	31019106	8551	16263											
CALU	813	broad.mit.edu	37	chr7	128394377	128394377	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcactgtggatgagctcaaaGactggattaaatttgcacaa	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128394377G>T	ENST00000535623.1	+	4	1250	c.307G>T	c.(307-309)Gac>Tac	p.D103Y	CALU_ENST00000449187.2_Intron|CALU_ENST00000542996.2_Intron|CALU_ENST00000249364.4_Missense_Mutation_p.D95Y|CALU_ENST00000535011.2_Missense_Mutation_p.D95Y|CALU_ENST00000479257.1_Missense_Mutation_p.D103Y|CALU_ENST00000538546.1_Intron	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN	calumenin	95	EF-hand 1.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						TGAGCTCAAAGACTGGATTAA	0.448													False	0	True	7:128394377	0	T	128394377	G	T	128394377	3	4	88	1	0	0	0	0	1	0	0	0	2614	942	33	3	289	3	CALU	7	128394377	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	274820	128394377	30744286	8552	16264											
CALU	813	broad.mit.edu	37	chr7	128407587	128407587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagcagtttgttgagtttCgggataagaaccgtgatggg	16	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128407587C>T	ENST00000542996.2	+	7	1688	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	CALU_ENST00000449187.2_Missense_Mutation_p.R241W|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000249364.4_Missense_Mutation_p.R241W|CALU_ENST00000535011.2_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.R249W|CALU_ENST00000538546.1_Missense_Mutation_p.R90W	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN	calumenin	241	EF-hand 5.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						TGTTGAGTTTCGGGATAAGAA	0.488													False	0	True	7:128407587	0	T	128407587	C	T	128407587	3	4	88	1	0	0	0	0	1	0	0	0	2614	875	31	1	937	1	CALU	7	128407587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13210	128407587	30731076	8553	16265											
OPN1SW	611	broad.mit.edu	37	chr7	128415770	128415770	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagacaggggcaatgtggtaCtgaggcccatcccacggccc	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128415770C>A	ENST00000249389.2	-	1	74	c.75G>T	c.(73-75)caG>caT	p.Q25H		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	25					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CAATGTGGTACTGAGGCCCAT	0.537													False	0	False	7:128415770	0	A	128415770	C	A	128415770	3	1	88	1	0	0	0	0	1	0	0	0	10948	564	20	3	991	3	OPN1SW	7	128415770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8183	128415770	30722893	8554	16266											
CCDC136	64753	broad.mit.edu	37	chr7	128457910	128457910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgggctgagacgtcgtcCtaatgcaggtactggtattg	15	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128457910C>T	ENST00000297788.4	+	17	3829	c.3462C>T	c.(3460-3462)tcC>tcT	p.S1154S	CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Silent_p.S515S|CCDC136_ENST00000378685.4_Silent_p.S434S|CCDC136_ENST00000464832.1_Silent_p.S446S	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1154						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGACGTCGTCCTAATGCAGGT	0.577													False	0	False	7:128457910	0	T	128457910	C	T	128457910	2	4	88	1	0	0	0	0	0	0	0	1	2790	668	24	2		2	CCDC136	7	128457910	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42140	128457910	30680753	8555	16267											
FLNC	2318	broad.mit.edu	37	chr7	128470956	128470956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccgcaagttccatccgCgccccaacttccgccaaatg	7	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128470956C>T	ENST00000325888.8	+	1	526	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	FLNC_ENST00000346177.6_Missense_Mutation_p.R89C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	89	Actin-binding.|CH 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTTCCATCCGCGCCCCAACTT	0.652													False	0	False	7:128470956	0	T	128470956	C	T	128470956	3	4	88	1	0	0	0	0	1	0	0	0	5975	768	27	1	267	1	FLNC	7	128470956	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13046	128470956	30667707	8556	16268											
FLNC	2318	broad.mit.edu	37	chr7	128481264	128481264	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacaagccaagatcgaatgTgacgacaagggggatggctc	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128481264T>C	ENST00000325888.8	+	12	2115	c.1854T>C	c.(1852-1854)tgT>tgC	p.C618C	FLNC_ENST00000346177.6_Silent_p.C618C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	618					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGATCGAATGTGACGACAAGG	0.627													False	0	False	7:128481264	0	C	128481264	T	C	128481264	2	2	88	1	0	0	0	0	0	0	0	1	5975	1702	59	4		4	FLNC	7	128481264	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10308	128481264	30657399	8557	16269											
FLNC	2318	broad.mit.edu	37	chr7	128489453	128489453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtggatgccaaggcagccGgtgaggggaaggtgacatgc	19	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128489453G>A	ENST00000325888.8	+	30	5281	c.5020G>A	c.(5020-5022)Ggt>Agt	p.G1674S	FLNC_ENST00000346177.6_Missense_Mutation_p.G1674S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1674					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGGCAGCCGGTGAGGGGAA	0.607													False	0	False	7:128489453	0	A	128489453	G	A	128489453	3	1	88	1	0	0	0	0	1	0	0	0	5975	1116	39	1	5138	1	FLNC	7	128489453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8189	128489453	30649210	8558	16270											
FLNC	2318	broad.mit.edu	37	chr7	128489608	128489608	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcttcgggggtgagcacatCcccaacagccccttccacgt	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128489608C>T	ENST00000325888.8	+	30	5436	c.5175C>T	c.(5173-5175)atC>atT	p.I1725I	FLNC_ENST00000346177.6_Silent_p.I1725I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1725					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGAGCACATCCCCAACAGCC	0.587													False	0	True	7:128489608	0	T	128489608	C	T	128489608	2	4	88	1	0	0	0	0	0	0	0	1	5975	845	30	2		2	FLNC	7	128489608	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	128489608	30649055	8559	16271											
FLNC	2318	broad.mit.edu	37	chr7	128494556	128494556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgagggcgaggacagcGcctacagcgtgcgctttgtg	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128494556G>A	ENST00000325888.8	+	41	7078	c.6817G>A	c.(6817-6819)Gcc>Acc	p.A2273T	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.A2240T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2273					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGAGGACAGCGCCTACAGCGT	0.632													False	0	False	7:128494556	0	A	128494556	G	A	128494556	3	1	88	1	0	0	0	0	1	0	0	0	5975	1087	38	1	6979	1	FLNC	7	128494556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4948	128494556	30644107	8560	16272											
FLNC	2318	broad.mit.edu	37	chr7	128496602	128496602	+	Missense_Mutation	SNP	T	T	C													tcaaggtgaaccagccagcgTcctttgccgtgcagctgaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128496602T>C	ENST00000325888.8	+	44	7543	c.7282T>C	c.(7282-7284)Tcc>Ccc	p.S2428P	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.S2395P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2428	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCAGCCAGCGTCCTTTGCCGT	0.652													False	0	False	7:128496602	0	C	128496602	T	C	128496602	3	2	88	1	0	0	0	0	1	0	0	0	5975	1667	58	4	7456	4	FLNC	7	128496602	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2046	128496602	30642061	8561	16273	197	2									
FLNC	2318	broad.mit.edu	37	chr7	128496609	128496609	+	Missense_Mutation	SNP	C	C	T													gaaccagccagcgtcctttgCcgtgcagctgaacggtgccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128496609C>T	ENST00000325888.8	+	44	7550	c.7289C>T	c.(7288-7290)gCc>gTc	p.A2430V	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.A2397V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2430	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCGTCCTTTGCCGTGCAGCTG	0.647													False	0	False	7:128496609	0	T	128496609	C	T	128496609	3	4	88	1	0	0	0	0	1	0	0	0	5975	739	26	2	7463	2	FLNC	7	128496609	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	128496609	30642054	8562	16274	197	2									
ATP6V1F	9296	broad.mit.edu	37	chr7	128505495	128505495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacatcgcagagatggtgCggcatgccctggacgcccac	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128505495C>T	ENST00000492758.1	+	3	308	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	ATP6V1F_ENST00000249289.4_Missense_Mutation_p.R75W	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	75					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			lung(1)|ovary(1)|prostate(1)	3						AGAGATGGTGCGGCATGCCCT	0.587													False	0	False	7:128505495	0	T	128505495	C	T	128505495	3	4	88	1	0	0	0	0	1	0	0	0	1189	759	27	1	229	1	ATP6V1F	7	128505495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8886	128505495	30633168	8563	16275											
SMO	6608	broad.mit.edu	37	chr7	128852143	128852143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctccaacccattctgcCcagagcccagtccccctcag	7	19	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128852143C>T	ENST00000249373.3	+	12	2495	c.2215C>T	c.(2215-2217)Cca>Tca	p.P739S	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	739					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCATTCTGCCCAGAGCCCAG	0.677			Mis		skin basal cell								False	0	True	7:128852143	0	T	128852143	C	T	128852143	3	4	88	1	0	0	0	0	1	0	0	0	14880	623	22	2	2261	2	SMO	7	128852143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	346648	128852143	30286520	8564	16276											
AHCYL2	23382	broad.mit.edu	37	chr7	129019543	129019543	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccaaaattggacgtcgctCtttgtctcgttccatttctc	6	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129019543C>T	ENST00000325006.3	+	2	482	c.428C>T	c.(427-429)tCt>tTt	p.S143F	AHCYL2_ENST00000446212.1_Missense_Mutation_p.S41F|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S62F|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S40F|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S142F	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	143					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGACGTCGCTCTTTGTCTCGT	0.428													False	0	True	7:129019543	0	T	129019543	C	T	129019543	3	4	88	1	0	0	0	0	1	0	0	0	411	913	32	2	556	2	AHCYL2	7	129019543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167400	129019543	30119120	8565	16277											
NRF1	4899	broad.mit.edu	37	chr7	129394908	129394908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgtggtgaccagcctcGcccagggcaacggaccagtg	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129394908G>A	ENST00000393232.1	+	11	1516	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	NRF1_ENST00000393230.2_Missense_Mutation_p.A467T|NRF1_ENST00000311967.2_Missense_Mutation_p.A486T|NRF1_ENST00000539636.1_Missense_Mutation_p.A306T|NRF1_ENST00000353868.4_Missense_Mutation_p.A401T|NRF1_ENST00000393231.3_Missense_Mutation_p.A486T|NRF1_ENST00000223190.4_Missense_Mutation_p.A467T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	467	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GACCAGCCTCGCCCAGGGCAA	0.612													False	0	True	7:129394908	0	A	129394908	G	A	129394908	3	1	88	1	0	0	0	0	1	0	0	0	10714	1087	38	1	1437	1	NRF1	7	129394908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	375365	129394908	29743755	8566	16278											
ZC3HC1	51530	broad.mit.edu	37	chr7	129680929	129680929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctcaaagggcttacctgCccatttcaaagagtatccat	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129680929C>T	ENST00000358303.4	-	3	355	c.271G>A	c.(271-273)Gca>Aca	p.A91T	ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A70T|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A91T|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A91T	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	91					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GGCTTACCTGCCCATTTCAAA	0.408													False	0	True	7:129680929	0	T	129680929	C	T	129680929	3	4	88	1	0	0	0	0	1	0	0	0	17660	739	26	2	1269	2	ZC3HC1	7	129680929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286021	129680929	29457734	8567	16279											
CPA2	1358	broad.mit.edu	37	chr7	129929527	129929527	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtcagatcctgcccacagcCgaggagacctggcttggctt	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129929527C>A	ENST00000222481.4	+	11	1255	c.1200C>A	c.(1198-1200)gcC>gcA	p.A400A		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	400					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGCCCACAGCCGAGGAGACCT	0.532													False	0	False	7:129929527	0	A	129929527	C	A	129929527	2	1	88	1	0	0	0	0	0	0	0	1	3813	639	23	3		3	CPA2	7	129929527	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248598	129929527	29209136	8568	16280											
CPA5	93979	broad.mit.edu	37	chr7	130001054	130001054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaattcagattggcaacaGctttgaaaaccagtccattc	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130001054G>A	ENST00000485477.1	+	6	1632	c.503G>A	c.(502-504)aGc>aAc	p.S168N	CPA5_ENST00000461828.1_Missense_Mutation_p.S168N|CPA5_ENST00000393213.3_Missense_Mutation_p.S168N|CPA5_ENST00000474905.1_Missense_Mutation_p.S168N|CPA5_ENST00000431780.2_Missense_Mutation_p.S168N|CPA5_ENST00000355388.3_Missense_Mutation_p.S168N|CPA5_ENST00000466363.2_Missense_Mutation_p.S168N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	168					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ATTGGCAACAGCTTTGAAAAC	0.403													False	0	False	7:130001054	0	A	130001054	G	A	130001054	3	1	88	1	0	0	0	0	1	0	0	0	3816	971	34	2	521	2	CPA5	7	130001054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71527	130001054	29137609	8569	16281											
CPA5	93979	broad.mit.edu	37	chr7	130002306	130002306	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggttctcggcacccaGccatctggattgacactgga	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130002306G>T	ENST00000485477.1	+	7	1691	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	CPA5_ENST00000461828.1_Missense_Mutation_p.A188S|CPA5_ENST00000393213.3_Missense_Mutation_p.A188S|CPA5_ENST00000474905.1_Missense_Mutation_p.A188S|CPA5_ENST00000431780.2_Missense_Mutation_p.A188S|CPA5_ENST00000355388.3_Missense_Mutation_p.A188S|CPA5_ENST00000466363.2_Missense_Mutation_p.A188S			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	188					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TCGGCACCCAGCCATCTGGAT	0.552													False	0	False	7:130002306	0	T	130002306	G	T	130002306	3	4	88	1	0	0	0	0	1	0	0	0	3816	971	34	3	584	3	CPA5	7	130002306	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1252	130002306	29136357	8570	16282											
CPA1	1357	broad.mit.edu	37	chr7	130022008	130022008	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caccttgtcagcaagatccaGattggcaacacctatgaagg	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130022008G>T	ENST00000011292.3	+	4	591	c.441G>T	c.(439-441)caG>caT	p.Q147H	CPA1_ENST00000484324.1_Missense_Mutation_p.Q59H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	147					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCAAGATCCAGATTGGCAACA	0.522													False	0	False	7:130022008	0	T	130022008	G	T	130022008	3	4	88	1	0	0	0	0	1	0	0	0	3812	933	33	3	455	3	CPA1	7	130022008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19702	130022008	29116655	8571	16283											
CPA1	1357	broad.mit.edu	37	chr7	130027777	130027777	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcctgctgccagcctcccaGatcatccccacagccaagga	7	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130027777G>A	ENST00000011292.3	+	10	1335	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	CPA1_ENST00000484324.1_Silent_p.Q307Q	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	395					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGCCTCCCAGATCATCCCCA	0.577													False	0	False	7:130027777	0	A	130027777	G	A	130027777	2	1	88	1	0	0	0	0	0	0	0	1	3812	933	33	2		2	CPA1	7	130027777	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5769	130027777	29110886	8572	16284											
KLF14	136259	broad.mit.edu	37	chr7	130418143	130418143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagtggcgggccagctcgtCggaacgcgtaaacttcttgt	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130418143C>T	ENST00000310992.4	-	1	745	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCCAGCTCGTCGGAACGCGTA	0.637													False	0	False	7:130418143	0	T	130418143	C	T	130418143	3	4	88	1	0	0	0	0	1	0	0	0	8392	884	31	1	257	1	KLF14	7	130418143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	390366	130418143	28720520	8573	16285											
KLF14	136259	broad.mit.edu	37	chr7	130418358	130418358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctgcccctagggcccctCcagagaacccaccagaggct	11	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130418358C>T	ENST00000310992.4	-	1	530	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					TAGGGCCCCTCCAGAGAACCC	0.761													False	0	False	7:130418358	0	T	130418358	C	T	130418358	3	4	88	1	0	0	0	0	1	0	0	0	8392	855	30	2	472	2	KLF14	7	130418358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215	130418358	28720305	8574	16286											
MKLN1	4289	broad.mit.edu	37	chr7	131151154	131151154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttactgaggcattgcaaGtacctcataagaaaacacag	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131151154G>T	ENST00000352689.6	+	15	1948	c.1908G>T	c.(1906-1908)aaG>aaT	p.K636N	MKLN1_ENST00000421797.2_Missense_Mutation_p.K544N|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	636					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GGCATTGCAAGTACCTCATAA	0.333													False	0	False	7:131151154	0	T	131151154	G	T	131151154	3	4	88	1	0	0	0	0	1	0	0	0	9670	1020	36	3	1999	3	MKLN1	7	131151154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	732796	131151154	27987509	8575	16287											
PODXL	5420	broad.mit.edu	37	chr7	131189129	131189129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaggttgtccagagggaCgatccagctgtcccccagct	13	13	1	1	rs139425581	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131189129C>T	ENST00000541194.1	-	9	1881	c.1624G>A	c.(1624-1626)Gtc>Atc	p.V542I	PODXL_ENST00000322985.9_Missense_Mutation_p.V508I|PODXL_ENST00000537928.1_Missense_Mutation_p.V508I|PODXL_ENST00000378555.3_Missense_Mutation_p.V540I	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	540					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TCCAGAGGGACGATCCAGCTG	0.582													False	0	False	7:131189129	0	T	131189129	C	T	131189129	3	4	88	1	0	0	0	0	1	0	0	0	12249	536	19	1	62	1	PODXL	7	131189129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37975	131189129	27949534	8576	16288											
PODXL	5420	broad.mit.edu	37	chr7	131189241	131189241	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtaaccattctccacTgtctgcagctcctctgttag	7	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131189241T>C	ENST00000541194.1	-	9	1769	c.1512A>G	c.(1510-1512)acA>acG	p.T504T	PODXL_ENST00000322985.9_Silent_p.T470T|PODXL_ENST00000537928.1_Silent_p.T470T|PODXL_ENST00000378555.3_Silent_p.T502T	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	502					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTCCACTGTCTGCAGCT	0.557													False	0	False	7:131189241	0	C	131189241	T	C	131189241	2	2	88	1	0	0	0	0	0	0	0	1	12249	1567	55	4		4	PODXL	7	131189241	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	112	131189241	27949422	8577	16289											
PODXL	5420	broad.mit.edu	37	chr7	131196124	131196124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgggctgtatctgtagCcatgatggtgacactggatg	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131196124C>T	ENST00000541194.1	-	2	432	c.175G>A	c.(175-177)Gct>Act	p.A59T	PODXL_ENST00000322985.9_Missense_Mutation_p.A57T|PODXL_ENST00000537928.1_Missense_Mutation_p.A57T|PODXL_ENST00000378555.3_Missense_Mutation_p.A57T|PODXL_ENST00000465001.1_5'UTR	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	57	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GTATCTGTAGCCATGATGGTG	0.512													False	0	False	7:131196124	0	T	131196124	C	T	131196124	3	4	88	1	0	0	0	0	1	0	0	0	12249	739	26	2	1539	2	PODXL	7	131196124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6883	131196124	27942539	8578	16290											
PLXNA4	91584	broad.mit.edu	37	chr7	131829899	131829899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgctcttccaggtatggCggacgtgcgggtcatgaatg	14	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131829899C>T	ENST00000359827.3	-	29	6166	c.5204G>A	c.(5203-5205)cGc>cAc	p.R1735H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1735H			Q9HCM2	PLXA4_HUMAN	plexin A4	1735						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCAGGTATGGCGGACGTGCGG	0.592													False	0	False	7:131829899	0	T	131829899	C	T	131829899	3	4	88	1	0	0	0	0	1	0	0	0	12191	768	27	1	496	1	PLXNA4	7	131829899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	633775	131829899	27308764	8579	16291											
PLXNA4	91584	broad.mit.edu	37	chr7	131853310	131853310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggcctttctccacacGctcctgccggtagcccggga	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131853310G>A	ENST00000359827.3	-	22	5001	c.4039C>T	c.(4039-4041)Cgt>Tgt	p.R1347C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1347C			Q9HCM2	PLXA4_HUMAN	plexin A4	1347						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTCTCCACACGCTCCTGCCGG	0.602													False	0	False	7:131853310	0	A	131853310	G	A	131853310	3	1	88	1	0	0	0	0	1	0	0	0	12191	1087	38	1	1689	1	PLXNA4	7	131853310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23411	131853310	27285353	8580	16292											
PLXNA4	91584	broad.mit.edu	37	chr7	131859635	131859635	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggaatcccggctccatccaGgtcactggtcagctcatgga	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131859635G>T	ENST00000359827.3	-	21	4881	c.3919C>A	c.(3919-3921)Ctg>Atg	p.L1307M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1307M			Q9HCM2	PLXA4_HUMAN	plexin A4	1307						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTCCATCCAGGTCACTGGTC	0.582													False	0	True	7:131859635	0	T	131859635	G	T	131859635	3	4	88	1	0	0	0	0	1	0	0	0	12191	991	35	3	1813	3	PLXNA4	7	131859635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6325	131859635	27279028	8581	16293											
PLXNA4	91584	broad.mit.edu	37	chr7	131908351	131908351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgggtgcagacatgccGgtatttacaccagtggcagc	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131908351G>A	ENST00000359827.3	-	9	2994	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R678W			Q9HCM2	PLXA4_HUMAN	plexin A4	678	PSI 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGACATGCCGGTATTTACAC	0.592													False	0	False	7:131908351	0	A	131908351	G	A	131908351	3	1	88	1	0	0	0	0	1	0	0	0	12191	1115	39	1	3748	1	PLXNA4	7	131908351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48716	131908351	27230312	8582	16294											
PLXNA4	91584	broad.mit.edu	37	chr7	132193050	132193050	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcttgcagatgccttGgtacaggctcccacaggcaa	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132193050G>A	ENST00000359827.3	-	2	1365	c.403C>T	c.(403-405)Caa>Taa	p.Q135*	PLXNA4_ENST00000423507.2_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000378539.5_Nonsense_Mutation_p.Q135*|PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.Q135*			Q9HCM2	PLXA4_HUMAN	plexin A4	135	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGATGCCTTGGTACAGGCTC	0.542													False	0	False	7:132193050	0	A	132193050	G	A	132193050	4	1	88	1	0	0	0	0	0	1	0	0	12191	1357	47	2	5719	2	PLXNA4	7	132193050	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284699	132193050	26945613	8583	16295											
PLXNA4	91584	broad.mit.edu	37	chr7	132193105	132193105	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtagtctatgaggagcatCttgttgacattgttggtggt	13	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132193105C>A	ENST00000359827.3	-	2	1310	c.348G>T	c.(346-348)aaG>aaT	p.K116N	PLXNA4_ENST00000423507.2_Missense_Mutation_p.K116N|PLXNA4_ENST00000378539.5_Missense_Mutation_p.K116N|PLXNA4_ENST00000321063.4_Missense_Mutation_p.K116N			Q9HCM2	PLXA4_HUMAN	plexin A4	116	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAGGAGCATCTTGTTGACAT	0.572													False	0	False	7:132193105	0	A	132193105	C	A	132193105	3	1	88	1	0	0	0	0	1	0	0	0	12191	912	32	3	5774	3	PLXNA4	7	132193105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	132193105	26945558	8584	16296											
CHCHD3	54927	broad.mit.edu	37	chr7	132481280	132481280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctggtgggtgttctcacGgtaacactgaagaattttgg	14	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132481280G>A	ENST00000262570.5	-	7	727	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Missense_Mutation_p.R200C	NM_017812.2	NP_060282.1	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	195	CHCH.				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GTGTTCTCACGGTAACACTGA	0.517													False	0	False	7:132481280	0	A	132481280	G	A	132481280	3	1	88	1	0	0	0	0	1	0	0	0	3340	1116	39	1	108	1	CHCHD3	7	132481280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288175	132481280	26657383	8585	16297											
EXOC4	60412	broad.mit.edu	37	chr7	132959895	132959895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccagagcatcacagagcGcatcactaactcccgaaata	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132959895G>A	ENST00000253861.4	+	2	274	c.245G>A	c.(244-246)cGc>cAc	p.R82H	EXOC4_ENST00000393161.2_Missense_Mutation_p.R82H|EXOC4_ENST00000539845.1_5'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	82					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATCACAGAGCGCATCACTAAC	0.473													False	0	False	7:132959895	0	A	132959895	G	A	132959895	3	1	88	1	0	0	0	0	1	0	0	0	5338	1087	38	1	251	1	EXOC4	7	132959895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478615	132959895	26178768	8586	16298											
LRGUK	136332	broad.mit.edu	37	chr7	133933760	133933760	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tattatacaactttagaagaActctggaaaagttttgatct	6	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:133933760A>C	ENST00000285928.2	+	18	2199	c.2130A>C	c.(2128-2130)gaA>gaC	p.E710D		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	710							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTTTAGAAGAACTCTGGAAAA	0.368													False	0	False	7:133933760	0	C	133933760	A	C	133933760	3	2	88	1	0	0	0	0	1	0	0	0	9005	40	2	4	2200	4	LRGUK	7	133933760	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	973865	133933760	25204903	8587	16299											
SLC35B4	84912	broad.mit.edu	37	chr7	133991519	133991519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatggtcaccattatggCatagtacctgaaatgcagac	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:133991519C>T	ENST00000378509.4	-	3	498	c.199G>A	c.(199-201)Gcc>Acc	p.A67T		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	67						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						ACCATTATGGCATAGTACCTG	0.388													False	0	False	7:133991519	0	T	133991519	C	T	133991519	3	4	88	1	0	0	0	0	1	0	0	0	14658	710	25	2	828	2	SLC35B4	7	133991519	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57759	133991519	25147144	8588	16300											
AKR1B1	231	broad.mit.edu	37	chr7	134133231	134133231	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttctcctgagtgagataTgggtggcactcaatctgcaa	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134133231T>C	ENST00000285930.4	-	6	646	c.567A>G	c.(565-567)ccA>ccG	p.P189P		NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	189					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	GAGTGAGATATGGGTGGCACT	0.532													False	0	True	7:134133231	0	C	134133231	T	C	134133231	2	2	88	1	0	0	0	0	0	0	0	1	466	1451	51	4		4	AKR1B1	7	134133231	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	141712	134133231	25005432	8589	16301											
AKR1B1	231	broad.mit.edu	37	chr7	134133752	134133752	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgttgggggatgtttacctgGttaactgcaggcttatactt	12	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134133752G>T	ENST00000285930.4	-	5	628	c.549C>A	c.(547-549)aaC>aaA	p.N183K		NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	183					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	TGTTTACCTGGTTAACTGCAG	0.488													False	0	False	7:134133752	0	T	134133752	G	T	134133752	3	4	88	1	0	0	0	0	1	0	0	0	466	1252	44	3	425	3	AKR1B1	7	134133752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	521	134133752	25004911	8590	16302											
AKR1B15	441282	broad.mit.edu	37	chr7	134252965	134252965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccattgatgcagaatatcGccacattgactgtgcctatt	9	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134252965G>A	ENST00000457545.2	+	4	466	c.206G>A	c.(205-207)cGc>cAc	p.R69H	AKR1B15_ENST00000423958.1_Missense_Mutation_p.R41H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	69							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCAGAATATCGCCACATTGAC	0.443													False	0	False	7:134252965	0	A	134252965	G	A	134252965	3	1	88	1	0	0	0	0	1	0	0	0	468	1087	38	1	212	1	AKR1B15	7	134252965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119213	134252965	24885698	8591	16303											
BPGM	669	broad.mit.edu	37	chr7	134346540	134346540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgagcgtcactatggggCcttgatcggtctcaacaggg	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134346540C>T	ENST00000393132.2	+	3	770	c.281C>T	c.(280-282)gCc>gTc	p.A94V	BPGM_ENST00000418040.1_Missense_Mutation_p.A94V|BPGM_ENST00000344924.3_Missense_Mutation_p.A94V	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	94					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CACTATGGGGCCTTGATCGGT	0.532													False	0	True	7:134346540	0	T	134346540	C	T	134346540	3	4	88	1	0	0	0	0	1	0	0	0	1495	739	26	2	283	2	BPGM	7	134346540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93575	134346540	24792123	8592	16304											
CALD1	800	broad.mit.edu	37	chr7	134618572	134618572	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gataaaggaggaagagaaaaGggcagcagaggagaggcaga	18	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134618572G>T	ENST00000361675.2	+	5	1281	c.1052G>T	c.(1051-1053)aGg>aTg	p.R351M	CALD1_ENST00000422748.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron			Q05682	CALD1_HUMAN	caldesmon 1	351	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						gaagagaaaagggcagcagag	0.532													False	0	True	7:134618572	0	T	134618572	G	T	134618572	3	4	88	1	0	0	0	0	1	0	0	0	2601	1000	35	3	1119	3	CALD1	7	134618572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	272032	134618572	24520091	8593	16305											
CALD1	800	broad.mit.edu	37	chr7	134635161	134635161	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggaagagattgaaaggCgaagagcagaagctgctgag	15	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134635161C>T	ENST00000361388.2	+	9	1610	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	CALD1_ENST00000422748.1_Nonsense_Mutation_p.R382*|CALD1_ENST00000424922.1_Nonsense_Mutation_p.R350*|CALD1_ENST00000361675.2_Nonsense_Mutation_p.R611*|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000543443.1_Nonsense_Mutation_p.R361*|CALD1_ENST00000393118.2_Nonsense_Mutation_p.R376*|CALD1_ENST00000417172.1_Nonsense_Mutation_p.R356*|CALD1_ENST00000495522.1_Nonsense_Mutation_p.R376*|CALD1_ENST00000361901.2_Nonsense_Mutation_p.R356*	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	611					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GATTGAAAGGCGAAGAGCAGA	0.453													False	0	False	7:134635161	0	T	134635161	C	T	134635161	4	4	88	1	0	0	0	0	0	1	0	0	2601	760	27	1	1914	1	CALD1	7	134635161	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16589	134635161	24503502	8594	16306											
TMEM140	55281	broad.mit.edu	37	chr7	134849279	134849279	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcatctgcctgatgtTttacgctcttctctgggagg	12	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134849279T>C	ENST00000275767.3	+	2	309	c.86T>C	c.(85-87)tTt>tCt	p.F29S	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140				F -> L (in dbSNP:rs292501).			integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						TGCCTGATGTTTTACGCTCTT	0.562													False	0	True	7:134849279	0	C	134849279	T	C	134849279	3	2	88	1	0	0	0	0	1	0	0	0	16137	1841	64	4	88	4	TMEM140	7	134849279	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	214118	134849279	24289384	8595	16307											
STRA8	346673	broad.mit.edu	37	chr7	134927583	134927583	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attccagaactggagcaaacCctggataatttgctgaagct	9	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134927583C>A	ENST00000275764.3	+	3	309	c.309C>A	c.(307-309)acC>acA	p.T103T		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	103					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		p.T103T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						TGGAGCAAACCCTGGATAATT	0.458													False	0	True	7:134927583	0	A	134927583	C	A	134927583	2	1	88	1	0	0	0	0	0	0	0	1	15405	610	22	3		3	STRA8	7	134927583	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78304	134927583	24211080	8596	16308											
STRA8	346673	broad.mit.edu	37	chr7	134928112	134928112	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgggcatgcaagcagCttagaggaggtcaagaaaga	15	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134928112C>A	ENST00000275764.3	+	4	369	c.369C>A	c.(367-369)agC>agA	p.S123R		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	123					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ATGCAAGCAGCTTAGAGGAGG	0.502													False	0	False	7:134928112	0	A	134928112	C	A	134928112	3	1	88	1	0	0	0	0	1	0	0	0	15405	796	28	3	383	3	STRA8	7	134928112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	529	134928112	24210551	8597	16309											
CNOT4	4850	broad.mit.edu	37	chr7	135079029	135079029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggttggtcttgaacggacAgttccttctcaatcaggtct	10	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135079029A>G	ENST00000428680.2	-	10	1538	c.1259T>C	c.(1258-1260)cTg>cCg	p.L420P	CNOT4_ENST00000315544.5_Missense_Mutation_p.L423P|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000361528.4_Missense_Mutation_p.L420P|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000451834.1_Missense_Mutation_p.L420P|CNOT4_ENST00000541284.1_Missense_Mutation_p.L423P|CNOT4_ENST00000423368.2_Missense_Mutation_p.L423P	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	423					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TTGAACGGACAGTTCCTTCTC	0.488													False	0	False	7:135079029	0	G	135079029	A	G	135079029	3	3	88	1	0	0	0	0	1	0	0	0	3644	188	7	4	773	4	CNOT4	7	135079029	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150917	135079029	24059634	8598	16310											
CNOT4	4850	broad.mit.edu	37	chr7	135080489	135080489	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgggatagggttgggatgGcgaaaattgtctgagaataa	15	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135080489G>A	ENST00000428680.2	-	9	1296	c.1017C>T	c.(1015-1017)cgC>cgT	p.R339R	CNOT4_ENST00000315544.5_Silent_p.R342R|CNOT4_ENST00000414802.1_Silent_p.R342R|CNOT4_ENST00000361528.4_Silent_p.R339R|CNOT4_ENST00000356162.4_Silent_p.R342R|CNOT4_ENST00000451834.1_Silent_p.R339R|CNOT4_ENST00000541284.1_Silent_p.R342R|CNOT4_ENST00000423368.2_Silent_p.R342R	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	342					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGTTGGGATGGCGAAAATTGT	0.527													False	0	False	7:135080489	0	A	135080489	G	A	135080489	2	1	88	1	0	0	0	0	0	0	0	1	3644	1190	42	2		2	CNOT4	7	135080489	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1460	135080489	24058174	8599	16311											
CNOT4	4850	broad.mit.edu	37	chr7	135095279	135095279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttacgtatcatacctctgCagtggtgtcactttgttctt	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135095279C>T	ENST00000428680.2	-	7	1086	c.807G>A	c.(805-807)ctG>ctA	p.L269L	CNOT4_ENST00000315544.5_Silent_p.L269L|CNOT4_ENST00000414802.1_Silent_p.L269L|CNOT4_ENST00000361528.4_Silent_p.L269L|CNOT4_ENST00000356162.4_Silent_p.L269L|CNOT4_ENST00000451834.1_Silent_p.L269L|CNOT4_ENST00000541284.1_Silent_p.L269L|CNOT4_ENST00000423368.2_Silent_p.L269L	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	269					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CATACCTCTGCAGTGGTGTCA	0.318													False	0	False	7:135095279	0	T	135095279	C	T	135095279	2	4	88	1	0	0	0	0	0	0	0	1	3644	697	25	2		2	CNOT4	7	135095279	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14790	135095279	24043384	8600	16312											
NUP205	23165	broad.mit.edu	37	chr7	135261869	135261869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgggcagtgaaaaacatcGcaaagaggcaagggttcaat	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135261869G>A	ENST00000285968.6	+	5	667	c.641G>A	c.(640-642)cGc>cAc	p.R214H	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	214					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAAAACATCGCAAAGAGGCA	0.373													False	0	False	7:135261869	0	A	135261869	G	A	135261869	3	1	88	1	0	0	0	0	1	0	0	0	10827	1087	38	1	659	1	NUP205	7	135261869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166590	135261869	23876794	8601	16313											
NUP205	23165	broad.mit.edu	37	chr7	135279294	135279294	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctttttgtgtcaattcttaGagtgaaaatgctcgcttggc	9	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135279294G>T	ENST00000285968.6	+	13	1856		c.e13-1		NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCAATTCTTAGAGTGAAAATG	0.408													False	0	False	7:135279294	0	T	135279294	G	T	135279294	5	4	88	1	0	0	0	0	0	0	1	0	10827	956	33	3	1880	3	NUP205	7	135279294	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17425	135279294	23859369	8602	16314											
NUP205	23165	broad.mit.edu	37	chr7	135285644	135285644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctgaggtggttttggaGgtgttttataaattgctcag	14	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135285644G>A	ENST00000285968.6	+	16	2327	c.2301G>A	c.(2299-2301)gaG>gaA	p.E767E	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	767					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGGTTTTGGAGGTGTTTTATA	0.373													False	0	False	7:135285644	0	A	135285644	G	A	135285644	2	1	88	1	0	0	0	0	0	0	0	1	10827	991	35	2		2	NUP205	7	135285644	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6350	135285644	23853019	8603	16315											
NUP205	23165	broad.mit.edu	37	chr7	135292055	135292055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacatcttggagaaaggaaCggaagggagaacaggcccag	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135292055C>T	ENST00000285968.6	+	22	3157	c.3131C>T	c.(3130-3132)aCg>aTg	p.T1044M		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1044					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAGAAAGGAACGGAAGGGAGA	0.463													False	0	False	7:135292055	0	T	135292055	C	T	135292055	3	4	88	1	0	0	0	0	1	0	0	0	10827	536	19	1	3217	1	NUP205	7	135292055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6411	135292055	23846608	8604	16316											
SLC13A4	26266	broad.mit.edu	37	chr7	135376316	135376316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcattctttttcccaaagCagggcttcttcgctggaatg	8	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135376316C>T	ENST00000354042.4	-	12	1987	c.1298G>A	c.(1297-1299)tGc>tAc	p.C433Y	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	433						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TTTCCCAAAGCAGGGCTTCTT	0.458													False	0	False	7:135376316	0	T	135376316	C	T	135376316	3	4	88	1	0	0	0	0	1	0	0	0	14475	710	25	2	602	2	SLC13A4	7	135376316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84261	135376316	23762347	8605	16317											
CHRM2	1129	broad.mit.edu	37	chr7	136699928	136699928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctagccctggactatgtgGtcagcaatgcctcagttatg	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136699928G>A	ENST00000445907.2	+	3	844	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	CHRM2_ENST00000320658.5_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.V106I|CHRM2_ENST00000453373.1_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.V106I|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	106					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GGACTATGTGGTCAGCAATGC	0.478													False	0	False	7:136699928	0	A	136699928	G	A	136699928	3	1	88	1	0	0	0	0	1	0	0	0	3400	1261	44	2	318	2	CHRM2	7	136699928	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1323612	136699928	22438735	8606	16318											
CHRM2	1129	broad.mit.edu	37	chr7	136700166	136700166	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagtttttttccaatgctgCtgtcacctttggtacggcta	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700166C>A	ENST00000445907.2	+	3	1082	c.554C>A	c.(553-555)gCt>gAt	p.A185D	CHRM2_ENST00000320658.5_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A185D|CHRM2_ENST00000453373.1_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.A185D|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	185					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCCAATGCTGCTGTCACCTTT	0.483													False	0	False	7:136700166	0	A	136700166	C	A	136700166	3	1	88	1	0	0	0	0	1	0	0	0	3400	797	28	3	556	3	CHRM2	7	136700166	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238	136700166	22438497	8607	16319											
CHRM2	1129	broad.mit.edu	37	chr7	136700546	136700546	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaacacagtttccacttccCtgggccattccaaagatgag	7	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700546C>A	ENST00000445907.2	+	3	1462	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	CHRM2_ENST00000320658.5_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.L312M|CHRM2_ENST00000453373.1_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.L312M|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	312					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TTCCACTTCCCTGGGCCATTC	0.463													False	0	True	7:136700546	0	A	136700546	C	A	136700546	3	1	88	1	0	0	0	0	1	0	0	0	3400	680	24	3	936	3	CHRM2	7	136700546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	380	136700546	22438117	8608	16320											
CHRM2	1129	broad.mit.edu	37	chr7	136700899	136700899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaattggttactggctttgTtacatcaacagcactatcaa	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700899T>C	ENST00000445907.2	+	3	1815	c.1287T>C	c.(1285-1287)tgT>tgC	p.C429C	CHRM2_ENST00000320658.5_Silent_p.C429C|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Silent_p.C429C|CHRM2_ENST00000453373.1_Silent_p.C429C|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Silent_p.C429C|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Silent_p.C429C|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	429					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACTGGCTTTGTTACATCAACA	0.438													False	0	False	7:136700899	0	C	136700899	T	C	136700899	2	2	88	1	0	0	0	0	0	0	0	1	3400	1731	60	4		4	CHRM2	7	136700899	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	353	136700899	22437764	8609	16321											
DGKI	9162	broad.mit.edu	37	chr7	137154342	137154342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctctgtgctgagagagcCctggggaaggaggtttcatg	16	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137154342C>T	ENST00000453654.2	-	25	2090	c.1551G>A	c.(1549-1551)agG>agA	p.R517R	DGKI_ENST00000424189.2_Silent_p.R820R|DGKI_ENST00000288490.5_Silent_p.R817R|DGKI_ENST00000446122.1_Silent_p.R799R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGAGAGAGCCCTGGGGAAGG	0.532													False	0	True	7:137154342	0	T	137154342	C	T	137154342	2	4	88	1	0	0	0	0	0	0	0	1	4501	622	22	2		2	DGKI	7	137154342	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453443	137154342	21984321	8610	16322											
DGKI	9162	broad.mit.edu	37	chr7	137269963	137269963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactctctaaccttacataCgccatcttcaagttcttctg	3	13	5	0	rs111722170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137269963C>T	ENST00000453654.2	-	14	1194	c.655G>A	c.(655-657)Gta>Ata	p.V219I	DGKI_ENST00000424189.2_Missense_Mutation_p.V519I|DGKI_ENST00000288490.5_Missense_Mutation_p.V519I|DGKI_ENST00000446122.1_Missense_Mutation_p.V519I			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACCTTACATACGCCATCTTCA	0.483													False	0	False	7:137269963	0	T	137269963	C	T	137269963	3	4	88	1	0	0	0	0	1	0	0	0	4501	536	19	1	1726	1	DGKI	7	137269963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115621	137269963	21868700	8611	16323											
DGKI	9162	broad.mit.edu	37	chr7	137308289	137308289	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactgtggaaggagaacttTtgctggaagccctgggatat	13	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137308289T>G	ENST00000424189.2	-	7	1045	c.816A>C	c.(814-816)caA>caC	p.Q272H	DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.Q272H|DGKI_ENST00000446122.1_Missense_Mutation_p.Q272H			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	272					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGGAGAACTTTTGCTGGAAGC	0.443													False	0	True	7:137308289	0	G	137308289	T	G	137308289	3	3	88	1	0	0	0	0	1	0	0	0	4501	1838	64	4	2493	4	DGKI	7	137308289	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38326	137308289	21830374	8612	16324											
CREB3L2	64764	broad.mit.edu	37	chr7	137565290	137565290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattcccctccagtttggCgctgaccctgtgaaggcatt	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137565290C>T	ENST00000330387.6	-	12	1846	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	499					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCCAGTTTGGCGCTGACCCTG	0.458			T	FUS	fibromyxoid sarcoma								False	0	False	7:137565290	0	T	137565290	C	T	137565290	3	4	88	1	0	0	0	0	1	0	0	0	3880	768	27	1	71	1	CREB3L2	7	137565290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257001	137565290	21573373	8613	16325											
CREB3L2	64764	broad.mit.edu	37	chr7	137569813	137569813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtggcagaaggataggGcccgtagccttgaaagaagc	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137569813G>A	ENST00000330387.6	-	10	1549	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	CREB3L2_ENST00000456390.1_Missense_Mutation_p.P400S	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	400					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GAAGGATAGGGCCCGTAGCCT	0.587			T	FUS	fibromyxoid sarcoma								False	0	True	7:137569813	0	A	137569813	G	A	137569813	3	1	88	1	0	0	0	0	1	0	0	0	3880	1203	42	2	376	2	CREB3L2	7	137569813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4523	137569813	21568850	8614	16326											
CREB3L2	64764	broad.mit.edu	37	chr7	137612945	137612945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgaagggcgactgggcCcgaggctcctcgcacaggga	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137612945C>T	ENST00000330387.6	-	2	621	c.270G>A	c.(268-270)cgG>cgA	p.R90R	CREB3L2_ENST00000452463.1_Silent_p.R90R|CREB3L2_ENST00000458726.1_Silent_p.R27R|CREB3L2_ENST00000456390.1_Silent_p.R90R	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	90					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCGACTGGGCCCGAGGCTCCT	0.587			T	FUS	fibromyxoid sarcoma								False	0	True	7:137612945	0	T	137612945	C	T	137612945	2	4	88	1	0	0	0	0	0	0	0	1	3880	610	22	2		2	CREB3L2	7	137612945	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43132	137612945	21525718	8615	16327											
TRIM24	8805	broad.mit.edu	37	chr7	138239457	138239457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattaggttctttagtaatcGaggataaagagagccagcca	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138239457G>A	ENST00000343526.4	+	9	1491	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.E426K			O15164	TIF1A_HUMAN	tripartite motif containing 24	426					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTTAGTAATCGAGGATAAAGA	0.363													False	0	False	7:138239457	0	A	138239457	G	A	138239457	3	1	88	1	0	0	0	0	1	0	0	0	16581	1059	37	1	1310	1	TRIM24	7	138239457	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	626512	138239457	20899206	8616	16328											
TRIM24	8805	broad.mit.edu	37	chr7	138239586	138239586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcagcctagctcaattaCggctccagcatatgcagcaa	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138239586C>T	ENST00000343526.4	+	9	1620	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.R469W			O15164	TIF1A_HUMAN	tripartite motif containing 24	469					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGCTCAATTACGGCTCCAGCA	0.502													False	0	False	7:138239586	0	T	138239586	C	T	138239586	3	4	88	1	0	0	0	0	1	0	0	0	16581	527	19	1	1439	1	TRIM24	7	138239586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	138239586	20899077	8617	16329											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138394541	138394541	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagagcacttcagacagttCtgcaaggtacgagaaaccac	9	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138394541C>A	ENST00000310018.2	-	21	2540		c.e21-1		ATP6V0A4_ENST00000353492.4_Splice_Site|ATP6V0A4_ENST00000393054.1_Splice_Site	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4						cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCAGACAGTTCTGCAAGGTAC	0.368													False	0	False	7:138394541	0	A	138394541	C	A	138394541	5	1	88	1	0	0	0	0	0	0	1	0	1174	927	32	3	273	3	ATP6V0A4	7	138394541	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154955	138394541	20744122	8618	16330											
TMEM213	155006	broad.mit.edu	37	chr7	138522642	138522642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttggcaaatctgcgaggCgaggccgatcagctgtggaa	14	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138522642C>T	ENST00000413208.1	+	3	276	c.183C>T	c.(181-183)ggC>ggT	p.G61G	KIAA1549_ENST00000242365.4_3'UTR|KIAA1549_ENST00000440172.1_3'UTR|KIAA1549_ENST00000422774.1_3'UTR			A2RRL7	TM213_HUMAN	transmembrane protein 213	0						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						ATCTGCGAGGCGAGGCCGATC	0.567													False	0	True	7:138522642	0	T	138522642	C	T	138522642	2	4	88	1	0	0	0	0	0	0	0	1	16218	783	27	1		1	TMEM213	7	138522642	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128101	138522642	20616021	8619	16331											
KIAA1549	57670	broad.mit.edu	37	chr7	138529190	138529190	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagggggcaccagctctgtaGactgcagcaaaccggggcca	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138529190G>A	ENST00000440172.1	-	18	5372	c.5324C>T	c.(5323-5325)tCt>tTt	p.S1775F	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1725F|KIAA1549_ENST00000422774.1_Missense_Mutation_p.S1775F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1775						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGCTCTGTAGACTGCAGCAA	0.617			O	BRAF	pilocytic astrocytoma								False	0	False	7:138529190	0	A	138529190	G	A	138529190	3	1	88	1	0	0	0	0	1	0	0	0	8294	942	33	2	540	2	KIAA1549	7	138529190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6548	138529190	20609473	8620	16332											
KIAA1549	57670	broad.mit.edu	37	chr7	138529203	138529203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtagactgcagcaaacCggggccaaaacctggtctga	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138529203C>T	ENST00000440172.1	-	18	5359	c.5311G>A	c.(5311-5313)Ggt>Agt	p.G1771S	KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1721S|KIAA1549_ENST00000422774.1_Missense_Mutation_p.G1771S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1771						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGCAGCAAACCGGGGCCAAAA	0.592			O	BRAF	pilocytic astrocytoma								False	0	True	7:138529203	0	T	138529203	C	T	138529203	3	4	88	1	0	0	0	0	1	0	0	0	8294	652	23	1	553	1	KIAA1549	7	138529203	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	138529203	20609460	8621	16333											
KIAA1549	57670	broad.mit.edu	37	chr7	138591671	138591671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctgtactcacgctctgCgatctgcagcactgggtatc	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138591671C>T	ENST00000440172.1	-	6	3502	c.3454G>A	c.(3454-3456)Gca>Aca	p.A1152T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1102T|KIAA1549_ENST00000422774.1_Missense_Mutation_p.A1152T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1152						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCACGCTCTGCGATCTGCAGC	0.473			O	BRAF	pilocytic astrocytoma								False	0	False	7:138591671	0	T	138591671	C	T	138591671	3	4	88	1	0	0	0	0	1	0	0	0	8294	768	27	1	2458	1	KIAA1549	7	138591671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62468	138591671	20546992	8622	16334											
KIAA1549	57670	broad.mit.edu	37	chr7	138602176	138602176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtcagtgaaaccgtagaCgcttcaacaaactcgagaga	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138602176C>T	ENST00000440172.1	-	2	2244	c.2196G>A	c.(2194-2196)gcG>gcA	p.A732A	KIAA1549_ENST00000242365.4_Silent_p.A682A|KIAA1549_ENST00000422774.1_Silent_p.A732A	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	732	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAACCGTAGACGCTTCAACAA	0.463			O	BRAF	pilocytic astrocytoma								False	0	False	7:138602176	0	T	138602176	C	T	138602176	2	4	88	1	0	0	0	0	0	0	0	1	8294	523	19	1		1	KIAA1549	7	138602176	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10505	138602176	20536487	8623	16335											
KIAA1549	57670	broad.mit.edu	37	chr7	138602828	138602828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacctgtgtggttgtaacaCtactcatatccacctcggca	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138602828C>T	ENST00000440172.1	-	2	1592	c.1544G>A	c.(1543-1545)aGt>aAt	p.S515N	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S465N|KIAA1549_ENST00000422774.1_Missense_Mutation_p.S515N	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	515	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGTTGTAACACTACTCATATC	0.532			O	BRAF	pilocytic astrocytoma								False	0	False	7:138602828	0	T	138602828	C	T	138602828	3	4	88	1	0	0	0	0	1	0	0	0	8294	565	20	2	4384	2	KIAA1549	7	138602828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	652	138602828	20535835	8624	16336											
KIAA1549	57670	broad.mit.edu	37	chr7	138603632	138603632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaagcaccaaattcctgCcaggagttggaacgatgccc	10	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138603632C>T	ENST00000440172.1	-	2	788	c.740G>A	c.(739-741)gGc>gAc	p.G247D	KIAA1549_ENST00000242365.4_Missense_Mutation_p.G197D|KIAA1549_ENST00000422774.1_Missense_Mutation_p.G247D	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	247						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAAATTCCTGCCAGGAGTTGG	0.512			O	BRAF	pilocytic astrocytoma								False	0	False	7:138603632	0	T	138603632	C	T	138603632	3	4	88	1	0	0	0	0	1	0	0	0	8294	739	26	2	5188	2	KIAA1549	7	138603632	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	804	138603632	20535031	8625	16337											
KIAA1549	57670	broad.mit.edu	37	chr7	138603904	138603904	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctggcagaaagttatccatCtcatcgtcattgacggccac	8	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138603904C>T	ENST00000440172.1	-	2	516	c.468G>A	c.(466-468)gaG>gaA	p.E156E	KIAA1549_ENST00000242365.4_Silent_p.E106E|KIAA1549_ENST00000422774.1_Silent_p.E156E	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	156						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGTTATCCATCTCATCGTCAT	0.488			O	BRAF	pilocytic astrocytoma								False	0	False	7:138603904	0	T	138603904	C	T	138603904	2	4	88	1	0	0	0	0	0	0	0	1	8294	912	32	2		2	KIAA1549	7	138603904	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	272	138603904	20534759	8626	16338											
ZC3HAV1L	92092	broad.mit.edu	37	chr7	138711299	138711299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccatcttctttacttctcGcaagacactgtgaggtagat	7	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138711299G>A	ENST00000275766.1	-	5	905	c.894C>T	c.(892-894)tgC>tgT	p.C298C		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	298										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTACTTCTCGCAAGACACTG	0.378													False	0	False	7:138711299	0	A	138711299	G	A	138711299	2	1	88	1	0	0	0	0	0	0	0	1	17659	1079	38	1		1	ZC3HAV1L	7	138711299	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107395	138711299	20427364	8627	16339											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138749734	138749734	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtcgacgtttgaatttttCcgtttgtctttctaattgga	9	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138749734C>T	ENST00000242351.5	-	8	2200	c.1884G>A	c.(1882-1884)cgG>cgA	p.R628R	ZC3HAV1_ENST00000471652.1_Silent_p.R628R|ZC3HAV1_ENST00000464606.1_Silent_p.R750R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	628	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTGAATTTTTCCGTTTGTCTT	0.408													False	0	True	7:138749734	0	T	138749734	C	T	138749734	2	4	88	1	0	0	0	0	0	0	0	1	17658	842	30	2		2	ZC3HAV1	7	138749734	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38435	138749734	20388929	8628	16340											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138768566	138768566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcatgtgcttgctgttGcagatgtcctggatgttctg	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138768566G>A	ENST00000242351.5	-	3	973	c.657C>T	c.(655-657)tgC>tgT	p.C219C	ZC3HAV1_ENST00000471652.1_Silent_p.C219C|ZC3HAV1_ENST00000464606.1_Silent_p.C219C	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	219					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCTTGCTGTTGCAGATGTCCT	0.493													False	0	False	7:138768566	0	A	138768566	G	A	138768566	2	1	88	1	0	0	0	0	0	0	0	1	17658	1311	46	2		2	ZC3HAV1	7	138768566	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18832	138768566	20370097	8629	16341											
TTC26	79989	broad.mit.edu	37	chr7	138819493	138819493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagattccaaaactagaggaGctactttcaaaaagagattt	7	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138819493G>T	ENST00000464848.1	+	2	176	c.96G>T	c.(94-96)gaG>gaT	p.E32D	TTC26_ENST00000474035.2_Missense_Mutation_p.E32D|TTC26_ENST00000430935.1_Missense_Mutation_p.E32D|TTC26_ENST00000495038.1_Missense_Mutation_p.E32D|TTC26_ENST00000343187.4_Missense_Mutation_p.E32D|TTC26_ENST00000478836.2_Missense_Mutation_p.E32D|TTC26_ENST00000481482.1_3'UTR			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	32							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AACTAGAGGAGCTACTTTCAA	0.418													False	0	False	7:138819493	0	T	138819493	G	T	138819493	3	4	88	1	0	0	0	0	1	0	0	0	16778	962	34	3	102	3	TTC26	7	138819493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50927	138819493	20319170	8630	16342											
TTC26	79989	broad.mit.edu	37	chr7	138824680	138824680	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaaattgtaattctgaagtCtgggtgaacctagcttgcac	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138824680C>T	ENST00000464848.1	+	4	359	c.279C>T	c.(277-279)gtC>gtT	p.V93V	TTC26_ENST00000474035.2_Silent_p.V93V|TTC26_ENST00000430935.1_Silent_p.V93V|TTC26_ENST00000495038.1_Silent_p.V93V|TTC26_ENST00000343187.4_Silent_p.V62V|TTC26_ENST00000478836.2_Silent_p.V93V|TTC26_ENST00000481482.1_3'UTR			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	93							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						ATTCTGAAGTCTGGGTGAACC	0.383													False	0	False	7:138824680	0	T	138824680	C	T	138824680	2	4	88	1	0	0	0	0	0	0	0	1	16778	900	32	2		2	TTC26	7	138824680	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5187	138824680	20313983	8631	16343											
UBN2	254048	broad.mit.edu	37	chr7	138936723	138936723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaaaccccgtaaacacCggaaggatcggctacaagat	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936723C>T	ENST00000473989.3	+	3	583	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	UBN2_ENST00000288561.8_Missense_Mutation_p.R112W	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCGTAAACACCGGAAGGATCG	0.373													False	0	False	7:138936723	0	T	138936723	C	T	138936723	3	4	88	1	0	0	0	0	1	0	0	0	16977	643	23	1	593	1	UBN2	7	138936723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112043	138936723	20201940	8632	16344											
UBN2	254048	broad.mit.edu	37	chr7	138936758	138936758	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagatttaattgatataggCtttggctatgatgagacaga	10	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936758C>A	ENST00000473989.3	+	3	618	c.618C>A	c.(616-618)ggC>ggA	p.G206G	UBN2_ENST00000288561.8_Silent_p.G123G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTGATATAGGCTTTGGCTATG	0.388													False	0	True	7:138936758	0	A	138936758	C	A	138936758	2	1	88	1	0	0	0	0	0	0	0	1	16977	784	28	3		3	UBN2	7	138936758	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	138936758	20201905	8633	16345											
UBN2	254048	broad.mit.edu	37	chr7	138946167	138946167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttctctgaataaacccCcatgtgctgctgcagcactg	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138946167C>T	ENST00000473989.3	+	6	1075	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S	UBN2_ENST00000288561.8_Missense_Mutation_p.P276S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GAATAAACCCCCATGTGCTGC	0.468													False	0	True	7:138946167	0	T	138946167	C	T	138946167	3	4	88	1	0	0	0	0	1	0	0	0	16977	623	22	2	1097	2	UBN2	7	138946167	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9409	138946167	20192496	8634	16346											
UBN2	254048	broad.mit.edu	37	chr7	138968305	138968305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggacttcagaggtcaaGccagattcacacttcttcct	7	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968305G>A	ENST00000473989.3	+	15	2654	c.2654G>A	c.(2653-2655)aGc>aAc	p.S885N	UBN2_ENST00000288561.8_Missense_Mutation_p.S802N	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2		Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGAGGTCAAGCCAGATTCAC	0.483													False	0	False	7:138968305	0	A	138968305	G	A	138968305	3	1	88	1	0	0	0	0	1	0	0	0	16977	971	34	2	2712	2	UBN2	7	138968305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22138	138968305	20170358	8635	16347											
UBN2	254048	broad.mit.edu	37	chr7	138968549	138968549	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataatccccaactctcctgTtcctcctcacttattaagac	2	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968549T>C	ENST00000473989.3	+	15	2898	c.2898T>C	c.(2896-2898)tgT>tgC	p.C966C	UBN2_ENST00000288561.8_Silent_p.C883C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2		Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AACTCTCCTGTTCCTCCTCAC	0.498													False	0	False	7:138968549	0	C	138968549	T	C	138968549	2	2	88	1	0	0	0	0	0	0	0	1	16977	1731	60	4		4	UBN2	7	138968549	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	244	138968549	20170114	8636	16348											
UBN2	254048	broad.mit.edu	37	chr7	138978654	138978654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatttactaaagggtttacaGccaggaggagctcagcatgc	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138978654G>T	ENST00000473989.3	+	17	3921	c.3921G>T	c.(3919-3921)caG>caT	p.Q1307H	UBN2_ENST00000288561.8_Missense_Mutation_p.Q1224H	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AGGGTTTACAGCCAGGAGGAG	0.438													False	0	False	7:138978654	0	T	138978654	G	T	138978654	3	4	88	1	0	0	0	0	1	0	0	0	16977	962	34	3	3987	3	UBN2	7	138978654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10105	138978654	20160009	8637	16349											
KLRG2	346689	broad.mit.edu	37	chr7	139168360	139168360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctctgccccggcttggcctCcgggcgcagcctcccaagac	12	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139168360C>T	ENST00000340940.4	-	1	98	c.29G>A	c.(28-30)gGa>gAa	p.G10E	KLRG2_ENST00000393039.2_Missense_Mutation_p.G10E	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	10						integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					GGCTTGGCCTCCGGGCGCAGC	0.711													False	0	False	7:139168360	0	T	139168360	C	T	139168360	3	4	88	1	0	0	0	0	1	0	0	0	8472	855	30	2	1220	2	KLRG2	7	139168360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	189706	139168360	19970303	8638	16350											
CLEC2L	154790	broad.mit.edu	37	chr7	139226862	139226862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggggacccgtttgatccGgacacgtgagctgaggcttc	14	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139226862G>A	ENST00000422142.2	+	4	600	c.528G>A	c.(526-528)ccG>ccA	p.P176P		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	176	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					CGTTTGATCCGGACACGTGAG	0.552													False	0	False	7:139226862	0	A	139226862	G	A	139226862	2	1	88	1	0	0	0	0	0	0	0	1	3532	1103	39	1		1	CLEC2L	7	139226862	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58502	139226862	19911801	8639	16351											
HIPK2	28996	broad.mit.edu	37	chr7	139285255	139285255	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacacccacatttaagggCtgtgctgctggaagggtcac	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139285255C>A	ENST00000406875.3	-	11	2437	c.2343G>T	c.(2341-2343)caG>caT	p.Q781H	HIPK2_ENST00000428878.2_Missense_Mutation_p.Q754H|HIPK2_ENST00000342645.6_Missense_Mutation_p.Q781H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	781	Interaction with CTBP1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CATTTAAGGGCTGTGCTGCTG	0.557													False	0	True	7:139285255	0	A	139285255	C	A	139285255	3	1	88	1	0	0	0	0	1	0	0	0	7164	796	28	3	1273	3	HIPK2	7	139285255	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58393	139285255	19853408	8640	16352											
HIPK2	28996	broad.mit.edu	37	chr7	139299093	139299093	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggtcaggccgggcacaaatCtgggctgttcctgtctgcag	15	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139299093C>A	ENST00000406875.3	-	8	2023	c.1929G>T	c.(1927-1929)caG>caT	p.Q643H	HIPK2_ENST00000428878.2_Missense_Mutation_p.Q616H|HIPK2_ENST00000342645.6_Missense_Mutation_p.Q643H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	643	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGCACAAATCTGGGCTGTTC	0.587													False	0	False	7:139299093	0	A	139299093	C	A	139299093	3	1	88	1	0	0	0	0	1	0	0	0	7164	912	32	3	1699	3	HIPK2	7	139299093	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13838	139299093	19839570	8641	16353											
HIPK2	28996	broad.mit.edu	37	chr7	139416452	139416452	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacgcttgagtccacattTttggtaggtatcaaggaggc	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139416452T>G	ENST00000406875.3	-	2	476	c.382A>C	c.(382-384)Aaa>Caa	p.K128Q	HIPK2_ENST00000428878.2_Missense_Mutation_p.K128Q|HIPK2_ENST00000342645.6_Missense_Mutation_p.K128Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	128	Transcriptional corepression (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGTCCACATTTTTGGTAGGTA	0.542													False	0	True	7:139416452	0	G	139416452	T	G	139416452	3	3	88	1	0	0	0	0	1	0	0	0	7164	1850	64	4	3270	4	HIPK2	7	139416452	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117359	139416452	19722211	8642	16354											
TBXAS1	6916	broad.mit.edu	37	chr7	139655298	139655298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgtggttgccagcgtcGcctttggcaccccggtggac	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139655298G>A	ENST00000263552.6	+	11	1121	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	TBXAS1_ENST00000448866.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A240T|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A195T|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A194T|TBXAS1_ENST00000336425.5_Missense_Mutation_p.A194T|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A127T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Missense_Mutation_p.A241T|TBXAS1_ENST00000414508.2_Missense_Mutation_p.A195T	NM_001130966.2	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	194					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TGCCAGCGTCGCCTTTGGCAC	0.567													False	0	False	7:139655298	0	A	139655298	G	A	139655298	3	1	88	1	0	0	0	0	1	0	0	0	15746	1087	38	1	751	1	TBXAS1	7	139655298	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238846	139655298	19483365	8643	16355											
PARP12	64761	broad.mit.edu	37	chr7	139727113	139727113	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggccaggttctgtactcGctcaatcttctgaacaaagt	10	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139727113G>A	ENST00000263549.3	-	10	2464	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	531	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCTGTACTCGCTCAATCTTC	0.537													False	0	False	7:139727113	0	A	139727113	G	A	139727113	4	1	88	1	0	0	0	0	0	1	0	0	11525	1095	38	1	526	1	PARP12	7	139727113	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71815	139727113	19411550	8644	16356											
JHDM1D	0	broad.mit.edu	37	chr7	139829450	139829450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctttataattatttcatcGgcactaaggaaaaacataag	5	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139829450G>A	ENST00000397560.2	-	4	499	c.402C>T	c.(400-402)gcC>gcT	p.A134A	JHDM1D_ENST00000006967.5_Silent_p.A134A	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		134					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTATTTCATCGGCACTAAGGA	0.328													False	0	False	7:139829450	0	A	139829450	G	A	139829450	2	1	88	1	0	0	0	0	0	0	0	1	7998	1103	39	1		1	JHDM1D	7	139829450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102337	139829450	19309213	8645	16357											
SLC37A3	84255	broad.mit.edu	37	chr7	140035278	140035278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttccctcactattaatggCgagataaacacaattgtaca	5	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140035278C>T	ENST00000340308.3	-	12	1228	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	SLC37A3_ENST00000326232.9_Silent_p.S473S|SLC37A3_ENST00000447932.2_Silent_p.S457S	NM_032295.2	NP_115671.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	0					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CTATTAATGGCGAGATAAACA	0.393													False	0	False	7:140035278	0	T	140035278	C	T	140035278	3	4	88	1	0	0	0	0	1	0	0	0	14679	768	27	1	218	1	SLC37A3	7	140035278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205828	140035278	19103385	8646	16358											
SLC37A3	84255	broad.mit.edu	37	chr7	140051074	140051074	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtaagcggtccttaccGgtatgactccaggaaggcaa	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140051074G>A	ENST00000326232.9	-	9	1084	c.881C>T	c.(880-882)cCg>cTg	p.P294L	SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000340308.3_Splice_Site_p.P294L|SLC37A3_ENST00000447932.2_Splice_Site_p.P294L	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	294					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GGTCCTTACCGGTATGACTCC	0.478													False	0	False	7:140051074	0	A	140051074	G	A	140051074	5	1	88	1	0	0	0	0	0	0	1	0	14679	1130	39	1	780	1	SLC37A3	7	140051074	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15796	140051074	19087589	8647	16359											
RAB19	401409	broad.mit.edu	37	chr7	140111711	140111711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggccaggagcgcttccGcaccatcacccaaagctact	9	16	1	0	rs146219058	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140111711G>A	ENST00000275874.5	+	4	578	c.380G>A	c.(379-381)cGc>cAc	p.R127H	RAB19_ENST00000537763.1_Missense_Mutation_p.R80H|RAB19_ENST00000356407.3_Missense_Mutation_p.R80H			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	80					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GAGCGCTTCCGCACCATCACC	0.582													False	0	False	7:140111711	0	A	140111711	G	A	140111711	3	1	88	1	0	0	0	0	1	0	0	0	12983	1087	38	1	245	1	RAB19	7	140111711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60637	140111711	19026952	8648	16360											
MKRN1	23608	broad.mit.edu	37	chr7	140156610	140156610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccacacaccatgtccttGctgcgctgcacggcaaatga	8	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140156610G>A	ENST00000480552.1	-	3	275	c.179C>T	c.(178-180)gCa>gTa	p.A60V	MKRN1_ENST00000443720.2_Silent_p.S276S|MKRN1_ENST00000437223.2_Silent_p.S10S|MKRN1_ENST00000255977.2_Silent_p.S276S|MKRN1_ENST00000474576.1_Silent_p.S212S			Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	94							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CCATGTCCTTGCTGCGCTGCA	0.542													False	0	True	7:140156610	0	A	140156610	G	A	140156610	3	1	88	1	0	0	0	0	1	0	0	0	9673	1310	46	2	640	2	MKRN1	7	140156610	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44899	140156610	18982053	8649	16361											
DENND2A	27147	broad.mit.edu	37	chr7	140301472	140301472	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcaaggctccggtcccaGggccttctgcatgaaccttt	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140301472G>T	ENST00000275884.6	-	2	1143	c.726C>A	c.(724-726)ccC>ccA	p.P242P	DENND2A_ENST00000496613.1_Silent_p.P242P|DENND2A_ENST00000492720.1_Silent_p.P242P|DENND2A_ENST00000537639.1_Silent_p.P242P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	242										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCGGTCCCAGGGCCTTCTGC	0.602													False	0	True	7:140301472	0	T	140301472	G	T	140301472	2	4	88	1	0	0	0	0	0	0	0	1	4459	987	35	3		3	DENND2A	7	140301472	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144862	140301472	18837191	8650	16362											
DENND2A	27147	broad.mit.edu	37	chr7	140302109	140302109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcagatgggcaagggTtctgaacacctctgagctgc	13	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140302109T>C	ENST00000275884.6	-	2	506	c.89A>G	c.(88-90)aAc>aGc	p.N30S	DENND2A_ENST00000496613.1_Missense_Mutation_p.N30S|DENND2A_ENST00000492720.1_Missense_Mutation_p.N30S|DENND2A_ENST00000537639.1_Missense_Mutation_p.N30S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	30										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGGGCAAGGGTTCTGAACACC	0.522													False	0	True	7:140302109	0	C	140302109	T	C	140302109	3	2	88	1	0	0	0	0	1	0	0	0	4459	1725	60	4	3012	4	DENND2A	7	140302109	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	637	140302109	18836554	8651	16363											
ADCK2	90956	broad.mit.edu	37	chr7	140373894	140373894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggctgagagagctctttgGataccttggaaatggccgga	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140373894G>A	ENST00000072869.4	+	1	942	c.764G>A	c.(763-765)gGa>gAa	p.G255E	ADCK2_ENST00000476491.1_Missense_Mutation_p.G255E	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	255	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GAGCTCTTTGGATACCTTGGA	0.557													False	0	False	7:140373894	0	A	140373894	G	A	140373894	3	1	88	1	0	0	0	0	1	0	0	0	289	1174	41	2	766	2	ADCK2	7	140373894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71785	140373894	18764769	8652	16364											
ADCK2	90956	broad.mit.edu	37	chr7	140386814	140386814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggataactttgtccatGcagaccttcaccctggaaac	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140386814G>A	ENST00000072869.4	+	5	1508	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	ADCK2_ENST00000476491.1_Missense_Mutation_p.A444T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	444	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTTTGTCCATGCAGACCTTCA	0.537													False	0	False	7:140386814	0	A	140386814	G	A	140386814	3	1	88	1	0	0	0	0	1	0	0	0	289	1319	46	2	1348	2	ADCK2	7	140386814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12920	140386814	18751849	8653	16365											
WEE2	494551	broad.mit.edu	37	chr7	141416030	141416030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttttaagtgaggaagCtggtccagaggaaggcaagg	14	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141416030C>T	ENST00000397541.2	+	3	954	c.548C>T	c.(547-549)gCt>gTt	p.A183V	WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	183					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGTGAGGAAGCTGGTCCAGAG	0.393													False	0	False	7:141416030	0	T	141416030	C	T	141416030	3	4	88	1	0	0	0	0	1	0	0	0	17429	797	28	2	558	2	WEE2	7	141416030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1029216	141416030	17722633	8654	16366											
WEE2	494551	broad.mit.edu	37	chr7	141420796	141420796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcacccccatgtggtaCgttactattcctcatgggca	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141420796C>T	ENST00000397541.2	+	5	1226	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000484172.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	274	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCATGTGGTACGTTACTATTC	0.408													False	0	False	7:141420796	0	T	141420796	C	T	141420796	3	4	88	1	0	0	0	0	1	0	0	0	17429	536	19	1	838	1	WEE2	7	141420796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4766	141420796	17717867	8655	16367											
WEE2	494551	broad.mit.edu	37	chr7	141430103	141430103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgatgaacagcaggagagCgtgagcctctgcattaaagg	13	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141430103C>T	ENST00000397541.2	+	12	2093	c.1687C>T	c.(1687-1689)Cgt>Tgt	p.R563C	WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000484172.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	563					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.R563C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGCAGGAGAGCGTGAGCCTCT	0.418													False	0	False	7:141430103	0	T	141430103	C	T	141430103	3	4	88	1	0	0	0	0	1	0	0	0	17429	768	27	1	1733	1	WEE2	7	141430103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9307	141430103	17708560	8656	16368											
TAS2R3	50831	broad.mit.edu	37	chr7	141464292	141464292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctactgcctgaaaatcGccagtttctctcaccccaca	4	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141464292G>A	ENST00000247879.2	+	1	396	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	112					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CCTGAAAATCGCCAGTTTCTC	0.463													False	0	False	7:141464292	0	A	141464292	G	A	141464292	3	1	88	1	0	0	0	0	1	0	0	0	15654	1087	38	1	336	1	TAS2R3	7	141464292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34189	141464292	17674371	8657	16369											
TAS2R38	5726	broad.mit.edu	37	chr7	141672855	141672855	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agacagtcagcatcccagaaGaaaccagaaacaataggaaa	8	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141672855G>T	ENST00000547270.1	-	1	718	c.635C>A	c.(634-636)tCt>tAt	p.S212Y		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	212					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CATCCCAGAAGAAACCAGAAA	0.458													False	0	True	7:141672855	0	T	141672855	G	T	141672855	3	4	88	1	0	0	0	0	1	0	0	0	15657	942	33	3	370	3	TAS2R38	7	141672855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	208563	141672855	17465808	8658	16370											
TAS2R38	5726	broad.mit.edu	37	chr7	141673051	141673051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaggagcaaagaataaTacccaggagcatctgggaga	13	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141673051T>C	ENST00000547270.1	-	1	522	c.439A>G	c.(439-441)Att>Gtt	p.I147V		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	147					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAAAGAATAATACCCAGGAGC	0.478													False	0	False	7:141673051	0	C	141673051	T	C	141673051	3	2	88	1	0	0	0	0	1	0	0	0	15657	1406	49	4	566	4	TAS2R38	7	141673051	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	196	141673051	17465612	8659	16371											
PRSS1	5644	broad.mit.edu	37	chr7	142460283	142460283	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcctgatcctcacagcCgactacccagacgagctgca	7	17	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142460283C>T	ENST00000486171.1	+	5	515	c.498C>T	c.(496-498)gcC>gcT	p.A166A	PRSS1_ENST00000311737.7_Splice_Site_p.A152A			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	152	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCCTCACAGCCGACTACCCAG	0.512													False	0	False	7:142460283	0	T	142460283	C	T	142460283	5	4	88	1	0	0	0	0	0	0	1	0	12690	666	23	1	470	1	PRSS1	7	142460283	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	787232	142460283	16678380	8660	16372											
PRSS1	5644	broad.mit.edu	37	chr7	142460861	142460861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattaagaacaccatagctgCcaatagctaaagcccccagt	7	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142460861C>T	ENST00000486171.1	+	6	793	c.776C>T	c.(775-777)gCc>gTc	p.A259V	PRSS1_ENST00000311737.7_Missense_Mutation_p.A245V			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	245					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACCATAGCTGCCAATAGCTAA	0.488													False	0	False	7:142460861	0	T	142460861	C	T	142460861	3	4	88	1	0	0	0	0	1	0	0	0	12690	739	26	2	752	2	PRSS1	7	142460861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	578	142460861	16677802	8661	16373											
EPHB6	0	broad.mit.edu	37	chr7	142564791	142564791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggccacggcccctacgGgggcaaagtctatttccaga	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142564791G>A	ENST00000392957.2	+	11	2502	c.1715G>A	c.(1714-1716)gGg>gAg	p.G572E	EPHB6_ENST00000411471.2_Missense_Mutation_p.G295E|EPHB6_ENST00000442129.1_Missense_Mutation_p.G572E	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	572	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCCCCTACGGGGGCAAAGTC	0.637													False	0	True	7:142564791	0	A	142564791	G	A	142564791	3	1	88	1	0	0	0	0	1	0	0	0	5210	1232	43	2	1741	2	EPHB6	7	142564791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103930	142564791	16573872	8662	16374											
EPHB6	0	broad.mit.edu	37	chr7	142566809	142566809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcagtacctgtccagctTtgccttcgtccatcgctcgc	8	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142566809T>G	ENST00000392957.2	+	16	3153	c.2366T>G	c.(2365-2367)tTt>tGt	p.F789C	EPHB6_ENST00000411471.2_Missense_Mutation_p.F512C|EPHB6_ENST00000442129.1_Missense_Mutation_p.F789C	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	789	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGTCCAGCTTTGCCTTCGTC	0.642													False	0	True	7:142566809	0	G	142566809	T	G	142566809	3	3	88	1	0	0	0	0	1	0	0	0	5210	1841	64	4	2412	4	EPHB6	7	142566809	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2018	142566809	16571854	8663	16375											
TRPV6	55503	broad.mit.edu	37	chr7	142572291	142572291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcatctggaatcctcgggCgaagtacatgacgttgcacc	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142572291C>T	ENST00000359396.3	-	11	1650	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	469					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AATCCTCGGGCGAAGTACATG	0.592													False	0	True	7:142572291	0	T	142572291	C	T	142572291	3	4	88	1	0	0	0	0	1	0	0	0	16683	768	27	1	792	1	TRPV6	7	142572291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5482	142572291	16566372	8664	16376											
TRPV6	55503	broad.mit.edu	37	chr7	142575012	142575012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgttctggttcacaacagCgatgtgcagtgcagtctgac	11	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142575012C>T	ENST00000359396.3	-	4	615	c.370G>A	c.(370-372)Gct>Act	p.A124T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	124					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TTCACAACAGCGATGTGCAGT	0.627													False	0	False	7:142575012	0	T	142575012	C	T	142575012	3	4	88	1	0	0	0	0	1	0	0	0	16683	768	27	1	1855	1	TRPV6	7	142575012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2721	142575012	16563651	8665	16377											
KEL	3792	broad.mit.edu	37	chr7	142651023	142651023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcaagcaggacaaccaGtcgatggcgggggccatttc	14	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142651023G>A	ENST00000355265.2	-	9	1419	c.945C>T	c.(943-945)gaC>gaT	p.D315D	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	315					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGGACAACCAGTCGATGGCGG	0.522													False	0	False	7:142651023	0	A	142651023	G	A	142651023	2	1	88	1	0	0	0	0	0	0	0	1	8192	1020	36	2		2	KEL	7	142651023	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76011	142651023	16487640	8666	16378											
KEL	3792	broad.mit.edu	37	chr7	142655466	142655466	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgcaggagttgtagaaCtggaaggctttctcctcccc	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142655466C>T	ENST00000355265.2	-	5	924	c.450G>A	c.(448-450)caG>caA	p.Q150Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	150					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTTGTAGAACTGGAAGGCTT	0.468													False	0	False	7:142655466	0	T	142655466	C	T	142655466	2	4	88	1	0	0	0	0	0	0	0	1	8192	564	20	2		2	KEL	7	142655466	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4443	142655466	16483197	8667	16379											
TAS2R40	259286	broad.mit.edu	37	chr7	142920107	142920107	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggaagcggtttcagcaCcaagttcctctttacctaaa	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142920107C>T	ENST00000408947.3	+	1	978	c.936C>T	c.(934-936)caC>caT	p.H312H		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	312					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GGTTTCAGCACCAAGTTCCTC	0.537													False	0	False	7:142920107	0	T	142920107	C	T	142920107	2	4	88	1	0	0	0	0	0	0	0	1	15660	506	18	2		2	TAS2R40	7	142920107	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264641	142920107	16218556	8668	16380											
CASP2	835	broad.mit.edu	37	chr7	142991359	142991359	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctagacaataaagatggtcCtgtctgccttcaggtgaagc	10	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142991359C>A	ENST00000310447.5	+	5	753	c.512C>A	c.(511-513)cCt>cAt	p.P171H	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	171					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AAAGATGGTCCTGTCTGCCTT	0.383													False	0	False	7:142991359	0	A	142991359	C	A	142991359	3	1	88	1	0	0	0	0	1	0	0	0	2691	681	24	3	530	3	CASP2	7	142991359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71252	142991359	16147304	8669	16381											
CASP2	835	broad.mit.edu	37	chr7	143001775	143001775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttggttgcagggactgccGccatgcggaacaccaaacga	12	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143001775G>A	ENST00000310447.5	+	10	1367	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	376					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AGGGACTGCCGCCATGCGGAA	0.537													False	0	False	7:143001775	0	A	143001775	G	A	143001775	3	1	88	1	0	0	0	0	1	0	0	0	2691	1087	38	1	1164	1	CASP2	7	143001775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10416	143001775	16136888	8670	16382											
FAM131B	9715	broad.mit.edu	37	chr7	143053714	143053714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacgtcagacaccttccGgctgagagcggtagacatct	12	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143053714G>A	ENST00000409408.1	-	6	2636	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	FAM131B_ENST00000409346.1_Missense_Mutation_p.R310W|FAM131B_ENST00000409578.1_Missense_Mutation_p.R326W|FAM131B_ENST00000443739.2_Missense_Mutation_p.R338W|FAM131B_ENST00000409222.3_Missense_Mutation_p.R310W			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	310										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GACACCTTCCGGCTGAGAGCG	0.582													False	0	False	7:143053714	0	A	143053714	G	A	143053714	3	1	88	1	0	0	0	0	1	0	0	0	5476	1115	39	1	74	1	FAM131B	7	143053714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51939	143053714	16084949	8671	16383											
ZYX	7791	broad.mit.edu	37	chr7	143079460	143079460	+	Nonsense_Mutation	SNP	G	G	T													catttccccctgcgcctctgGaggaggagatcttcccttcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143079460G>T	ENST00000322764.5	+	3	673	c.328G>T	c.(328-330)Gag>Tag	p.E110*	ZYX_ENST00000449423.2_Nonsense_Mutation_p.E54*|ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000477373.1_Intron	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	110					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGCGCCTCTGGAGGAGGAGAT	0.701													False	0	True	7:143079460	0	T	143079460	G	T	143079460	4	4	88	1	0	0	0	0	0	1	0	0	18336	1175	41	3	334	3	ZYX	7	143079460	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25746	143079460	16059203	8672	16384	198	2									
ZYX	7791	broad.mit.edu	37	chr7	143079468	143079468	+	Silent	SNP	G	G	A													cctgcgcctctggaggaggaGatcttcccttccccgccgcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143079468G>A	ENST00000322764.5	+	3	681	c.336G>A	c.(334-336)gaG>gaA	p.E112E	ZYX_ENST00000449423.2_Silent_p.E56E|ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000477373.1_Intron	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	112					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGGAGGAGGAGATCTTCCCTT	0.706													False	0	True	7:143079468	0	A	143079468	G	A	143079468	2	1	88	1	0	0	0	0	0	0	0	1	18336	933	33	2		2	ZYX	7	143079468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	143079468	16059195	8673	16385	198	2									
ZYX	7791	broad.mit.edu	37	chr7	143085748	143085748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtactgcgagggctgttaCactgtgagtcgggctgtgct	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143085748C>T	ENST00000322764.5	+	7	1656	c.1311C>T	c.(1309-1311)taC>taT	p.Y437Y	ZYX_ENST00000449423.2_Silent_p.Y350Y|ZYX_ENST00000392910.2_Silent_p.Y280Y	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	437	LIM zinc-binding 1.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AGGGCTGTTACACTGTGAGTC	0.657													False	0	False	7:143085748	0	T	143085748	C	T	143085748	2	4	88	1	0	0	0	0	0	0	0	1	18336	489	17	2		2	ZYX	7	143085748	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6280	143085748	16052915	8674	16386											
EPHA1	2041	broad.mit.edu	37	chr7	143088579	143088579	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaatccctgaatactgcaaaGaatgcgcttctggtgcccgg	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143088579G>T	ENST00000275815.3	-	18	2988	c.2902C>A	c.(2902-2904)Ctt>Att	p.L968I		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	968	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATACTGCAAAGAATGCGCTTC	0.612													False	0	True	7:143088579	0	T	143088579	G	T	143088579	3	4	88	1	0	0	0	0	1	0	0	0	5197	942	33	3	32	3	EPHA1	7	143088579	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2831	143088579	16050084	8675	16387											
EPHA1	2041	broad.mit.edu	37	chr7	143091949	143091949	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaggcgagtcaggccAaagtcagacaccttgcagca	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143091949A>G	ENST00000275815.3	-	14	2390	c.2304T>C	c.(2302-2304)ttT>ttC	p.F768F		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	768	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GAGTCAGGCCAAAGTCAGACA	0.512													False	0	True	7:143091949	0	G	143091949	A	G	143091949	2	3	88	1	0	0	0	0	0	0	0	1	5197	127	5	4		4	EPHA1	7	143091949	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3370	143091949	16046714	8676	16388											
EPHA1	2041	broad.mit.edu	37	chr7	143096798	143096798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggctcacagtggcaccGtcctacaggcaccagccact	10	17	1	0	rs140233341	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143096798G>A	ENST00000275815.3	-	4	867	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	261	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAGTGGCACCGTCCTACAGGC	0.657													False	0	False	7:143096798	0	A	143096798	G	A	143096798	3	1	88	1	0	0	0	0	1	0	0	0	5197	1144	40	1	2209	1	EPHA1	7	143096798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4849	143096798	16041865	8677	16389											
EPHA1	2041	broad.mit.edu	37	chr7	143098600	143098600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccgcggtagatccaattGgagcgaagccagtggtcagt	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143098600G>A	ENST00000275815.3	-	3	335	c.249C>T	c.(247-249)tcC>tcT	p.S83S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	83						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGATCCAATTGGAGCGAAGCC	0.602													False	0	False	7:143098600	0	A	143098600	G	A	143098600	2	1	88	1	0	0	0	0	0	0	0	1	5197	1335	47	2		2	EPHA1	7	143098600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1802	143098600	16040063	8678	16390											
TAS2R60	338398	broad.mit.edu	37	chr7	143140633	143140633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttactccttttacgcctgGtagcaatagcaggcaatggc	9	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143140633G>A	ENST00000332690.1	+	1	88	c.88G>A	c.(88-90)Gta>Ata	p.V30I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	30					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTTACGCCTGGTAGCAATAGC	0.488													False	0	False	7:143140633	0	A	143140633	G	A	143140633	3	1	88	1	0	0	0	0	1	0	0	0	15667	1261	44	2	90	2	TAS2R60	7	143140633	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42033	143140633	15998030	8679	16391											
TAS2R41	259287	broad.mit.edu	37	chr7	143175206	143175206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagtactctgggggtctcGgccgacagttcttccatcta	11	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143175206G>A	ENST00000408916.1	+	1	241	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	81					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGGGGGTCTCGGCCGACAGTT	0.542													False	0	False	7:143175206	0	A	143175206	G	A	143175206	3	1	88	1	0	0	0	0	1	0	0	0	15661	1116	39	1	243	1	TAS2R41	7	143175206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34573	143175206	15963457	8680	16392											
TAS2R41	259287	broad.mit.edu	37	chr7	143175313	143175313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattgctaacatcacacaCtccaccttcctgtggctgaa	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143175313C>T	ENST00000408916.1	+	1	348	c.348C>T	c.(346-348)caC>caT	p.H116H	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	116					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					ACATCACACACTCCACCTTCC	0.517													False	0	True	7:143175313	0	T	143175313	C	T	143175313	2	4	88	1	0	0	0	0	0	0	0	1	15661	564	20	2		2	TAS2R41	7	143175313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107	143175313	15963350	8681	16393											
OR2F2	135948	broad.mit.edu	37	chr7	143632519	143632519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgtatttctttctcaccaAcctctcccttgtcgatgtct	4	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143632519A>G	ENST00000408955.2	+	1	261	c.194A>G	c.(193-195)aAc>aGc	p.N65S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTTCTCACCAACCTCTCCCTT	0.507													False	0	False	7:143632519	0	G	143632519	A	G	143632519	3	3	88	1	0	0	0	0	1	0	0	0	11065	43	2	4	196	4	OR2F2	7	143632519	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	457206	143632519	15506144	8682	16394											
OR2F1	26211	broad.mit.edu	37	chr7	143657759	143657759	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagatccagtccagagaAggaagaaagaaagctttcca	9	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143657759A>C	ENST00000392899.1	+	1	733	c.696A>C	c.(694-696)gaA>gaC	p.E232D		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGTCCAGAGAAGGAAGAAAGA	0.493													False	0	True	7:143657759	0	C	143657759	A	C	143657759	3	2	88	1	0	0	0	0	1	0	0	0	11064	69	3	4	698	4	OR2F1	7	143657759	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25240	143657759	15480904	8683	16395											
OR6B1	135946	broad.mit.edu	37	chr7	143701395	143701395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtatgatacaactgtaCttcttcattgctctcatgtg	6	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143701395C>T	ENST00000408922.2	+	1	374	c.306C>T	c.(304-306)taC>taT	p.Y102Y		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TACAACTGTACTTCTTCATTG	0.478													False	0	False	7:143701395	0	T	143701395	C	T	143701395	2	4	88	1	0	0	0	0	0	0	0	1	11255	576	20	2		2	OR6B1	7	143701395	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43636	143701395	15437268	8684	16396											
OR2A25	392138	broad.mit.edu	37	chr7	143772016	143772016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggagaggggtgccagaAagccttctccatctgctcct	12	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143772016A>C	ENST00000408898.2	+	1	742	c.704A>C	c.(703-705)aAa>aCa	p.K235T		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGGTGCCAGAAAGCCTTCTCC	0.493													False	0	True	7:143772016	0	C	143772016	A	C	143772016	3	2	88	1	0	0	0	0	1	0	0	0	11046	14	1	4	706	4	OR2A25	7	143772016	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70621	143772016	15366647	8685	16397											
OR2A12	346525	broad.mit.edu	37	chr7	143792476	143792476	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcacaaaaaagtcatctcCtttgctccttgcatacttca	4	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143792476C>A	ENST00000408949.2	+	1	336	c.276C>A	c.(274-276)tcC>tcA	p.S92S		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAGTCATCTCCTTTGCTCCTT	0.428													False	0	True	7:143792476	0	A	143792476	C	A	143792476	2	1	88	1	0	0	0	0	0	0	0	1	11043	668	24	3		3	OR2A12	7	143792476	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20460	143792476	15346187	8686	16398											
OR2A2	442361	broad.mit.edu	37	chr7	143806742	143806742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggttggtccagcactgGcgattctcctctgtggactc	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143806742G>A	ENST00000408979.2	+	1	136	c.67G>A	c.(67-69)Gcg>Acg	p.A23T		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCCAGCACTGGCGATTCTCCT	0.512													False	0	False	7:143806742	0	A	143806742	G	A	143806742	3	1	88	1	0	0	0	0	1	0	0	0	11045	1203	42	2	69	2	OR2A2	7	143806742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14266	143806742	15331921	8687	16399											
OR2A7	401427	broad.mit.edu	37	chr7	143956692	143956692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatcccagtaggaggaaCtctgtgatggatgttatatt	12	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143956692C>T	ENST00000493325.1	-	1	123	c.30G>A	c.(28-30)gaG>gaA	p.E10E	OR2A1-AS1_ENST00000461843.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GTAGGAGGAACTCTGTGATGG	0.458													False	0	False	7:143956692	0	T	143956692	C	T	143956692	2	4	88	1	0	0	0	0	0	0	0	1	11050	564	20	2		2	OR2A7	7	143956692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149950	143956692	15181971	8688	16400											
ARHGEF5	7984	broad.mit.edu	37	chr7	144060720	144060720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggctcagggtcagggaggtCcagaacagggagaagagagg	19	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144060720C>T	ENST00000056217.5	+	2	1132	c.958C>T	c.(958-960)Cca>Tca	p.P320S		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	320					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TCAGGGAGGTCCAGAACAGGG	0.542													False	0	False	7:144060720	0	T	144060720	C	T	144060720	3	4	88	1	0	0	0	0	1	0	0	0	911	855	30	2	960	2	ARHGEF5	7	144060720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104028	144060720	15077943	8689	16401											
ARHGEF5	7984	broad.mit.edu	37	chr7	144061097	144061097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagggctgaggaactgtcCcccgcagctctgtctccctc	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144061097C>T	ENST00000056217.5	+	2	1509	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	445					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGAACTGTCCCCCGCAGCTC	0.562													False	0	True	7:144061097	0	T	144061097	C	T	144061097	2	4	88	1	0	0	0	0	0	0	0	1	911	610	22	2		2	ARHGEF5	7	144061097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	377	144061097	15077566	8690	16402											
ARHGEF5	7984	broad.mit.edu	37	chr7	144068362	144068362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggccacactttccaaccagGagcaccaatggctcttctct	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144068362G>A	ENST00000056217.5	+	6	3814	c.3640G>A	c.(3640-3642)Gag>Aag	p.E1214K	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E136K	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1214	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTCCAACCAGGAGCACCAATG	0.517													False	0	False	7:144068362	0	A	144068362	G	A	144068362	3	1	88	1	0	0	0	0	1	0	0	0	911	1175	41	2	3658	2	ARHGEF5	7	144068362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7265	144068362	15070301	8691	16403											
NOBOX	135935	broad.mit.edu	37	chr7	144097306	144097306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccccctttaccatgatgCgctggggggtcacccccacc	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144097306C>T	ENST00000467773.1	-	5	943	c.944G>A	c.(943-945)cGc>cAc	p.R315H	NOBOX_ENST00000223140.5_Missense_Mutation_p.R230H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R315H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	315					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TACCATGATGCGCTGGGGGGT	0.587													False	0	False	7:144097306	0	T	144097306	C	T	144097306	3	4	88	1	0	0	0	0	1	0	0	0	10580	768	27	1	1059	1	NOBOX	7	144097306	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28944	144097306	15041357	8692	16404											
TPK1	27010	broad.mit.edu	37	chr7	144288631	144288631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatctggtcaaaacgcccaGcaaggcctcccagtgtcacg	9	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144288631G>A	ENST00000549981.1	-	9	758	c.35C>T	c.(34-36)gCt>gTt	p.A12V	TPK1_ENST00000538212.2_Intron|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000360057.3_Missense_Mutation_p.A129V			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	129					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	AAAACGCCCAGCAAGGCCTCC	0.408													False	0	False	7:144288631	0	A	144288631	G	A	144288631	3	1	88	1	0	0	0	0	1	0	0	0	16487	971	34	2	357	2	TPK1	7	144288631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191325	144288631	14850032	8693	16405											
CNTNAP2	26047	broad.mit.edu	37	chr7	146471401	146471401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctctggactcccccatGtggctttcagcagctcctcc	8	16	2	0	rs137924687	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:146471401G>A	ENST00000361727.3	+	2	652	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	46	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTCCCCCATGTGGCTTTCAG	0.438										HNSCC(39;0.1)			False	0	False	7:146471401	0	A	146471401	G	A	146471401	3	1	88	1	0	0	0	0	1	0	0	0	3670	1377	48	2	142	2	CNTNAP2	7	146471401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2182770	146471401	12667262	8694	16406											
CNTNAP2	26047	broad.mit.edu	37	chr7	146536846	146536846	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagcgaccattatcaatgGcttcaggttgactttggcaa	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:146536846G>A	ENST00000361727.3	+	3	768	c.252G>A	c.(250-252)tgG>tgA	p.W84*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	84	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTATCAATGGCTTCAGGTTG	0.463										HNSCC(39;0.1)			False	0	False	7:146536846	0	A	146536846	G	A	146536846	4	1	88	1	0	0	0	0	0	1	0	0	3670	1212	42	2	262	2	CNTNAP2	7	146536846	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65445	146536846	12601817	8695	16407											
CNTNAP2	26047	broad.mit.edu	37	chr7	147092868	147092868	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttgacatgtgtgcgatcataGacaggtaaatgatcttttca	9	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147092868G>C	ENST00000361727.3	+	10	2182	c.1666G>C	c.(1666-1668)Gac>Cac	p.D556H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	556	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCGATCATAGACAGGTAAAT	0.413										HNSCC(39;0.1)			False	0	False	7:147092868	0	C	147092868	G	C	147092868	3	2	88	1	0	0	0	0	1	0	0	0	3670	942	33	5	1704	5	CNTNAP2	7	147092868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	556022	147092868	12045795	8696	16408											
CNTNAP2	26047	broad.mit.edu	37	chr7	147844744	147844744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggctaccgcagcagatcCgcaaggccccaacagaaggc	11	16	0	2	rs141617212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147844744C>T	ENST00000361727.3	+	17	3232	c.2716C>T	c.(2716-2718)Cgc>Tgc	p.R906C	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	906	Laminin G-like 3.		R -> H.		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCAGCAGATCCGCAAGGCCCC	0.562										HNSCC(39;0.1)			False	0	False	7:147844744	0	T	147844744	C	T	147844744	3	4	88	1	0	0	0	0	1	0	0	0	3670	652	23	1	2782	1	CNTNAP2	7	147844744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	751876	147844744	11293919	8697	16409											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914439	147914439	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataactttcaggcaccagcaAcaaatgccagagactccagc	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147914439A>G	ENST00000361727.3	+	19	3586	c.3070A>G	c.(3070-3072)Aca>Gca	p.T1024A	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.T83A	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1024					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCACCAGCAACAAATGCCAG	0.498										HNSCC(39;0.1)			False	0	False	7:147914439	0	G	147914439	A	G	147914439	3	3	88	1	0	0	0	0	1	0	0	0	3670	43	2	4	3144	4	CNTNAP2	7	147914439	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69695	147914439	11224224	8698	16410											
C7orf33	202865	broad.mit.edu	37	chr7	148311388	148311388	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacaagttcatacctaaaCgtaagctccgaagtgtctta	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148311388C>T	ENST00000307003.2	+	2	820	c.459C>T	c.(457-459)aaC>aaT	p.N153N		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	153										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CATACCTAAACGTAAGCTCCG	0.458													False	0	True	7:148311388	0	T	148311388	C	T	148311388	5	4	88	1	0	0	0	0	0	0	1	0	2407	550	19	1	465	1	C7orf33	7	148311388	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396949	148311388	10827275	8699	16411											
CUL1	8454	broad.mit.edu	37	chr7	148454093	148454093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggatggagaagatttgatgGatgagagtgtactgaaattc	14	2	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148454093G>A	ENST00000325222.4	+	4	613	c.334G>A	c.(334-336)Gat>Aat	p.D112N	CUL1_ENST00000409469.1_Missense_Mutation_p.D112N|CUL1_ENST00000602748.1_Missense_Mutation_p.D112N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGATTTGATGGATGAGAGTGT	0.328													False	0	True	7:148454093	0	A	148454093	G	A	148454093	3	1	88	1	0	0	0	0	1	0	0	0	4079	1174	41	2	344	2	CUL1	7	148454093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142705	148454093	10684570	8700	16412											
EZH2	0	broad.mit.edu	37	chr7	148507481	148507481	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatcatacactttccctcttCtgtcagcttcatcttgagaa	4	12	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148507481C>A	ENST00000320356.2	-	17	2094	c.1973G>T	c.(1972-1974)aGa>aTa	p.R658I	EZH2_ENST00000478654.1_Missense_Mutation_p.R602I|EZH2_ENST00000541220.1_Missense_Mutation_p.R602I|EZH2_ENST00000350995.2_Missense_Mutation_p.R614I|EZH2_ENST00000483967.1_Missense_Mutation_p.R644I|EZH2_ENST00000460911.1_Missense_Mutation_p.R653I|EZH2_ENST00000476773.1_Missense_Mutation_p.R602I	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	653	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTTCCCTCTTCTGTCAGCTTC	0.398			Mis		DLBCL								False	0	False	7:148507481	0	A	148507481	C	A	148507481	3	1	88	1	0	0	0	0	1	0	0	0	5367	913	32	3	298	3	EZH2	7	148507481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53388	148507481	10631182	8701	16413											
EZH2	0	broad.mit.edu	37	chr7	148511157	148511157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagggtcacactctcggAcagccaggtagcacgggcac	14	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148511157A>G	ENST00000320356.2	-	15	1866	c.1745T>C	c.(1744-1746)gTc>gCc	p.V582A	EZH2_ENST00000478654.1_Missense_Mutation_p.V526A|EZH2_ENST00000541220.1_Missense_Mutation_p.V526A|EZH2_ENST00000350995.2_Missense_Mutation_p.V538A|EZH2_ENST00000483967.1_Missense_Mutation_p.V568A|EZH2_ENST00000460911.1_Missense_Mutation_p.V577A|EZH2_ENST00000476773.1_Missense_Mutation_p.V526A	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	577	Cys-rich.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACACTCTCGGACAGCCAGGTA	0.547			Mis		DLBCL								False	0	False	7:148511157	0	G	148511157	A	G	148511157	3	3	88	1	0	0	0	0	1	0	0	0	5367	275	10	4	534	4	EZH2	7	148511157	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3676	148511157	10627506	8702	16414											
EZH2	0	broad.mit.edu	37	chr7	148524275	148524275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttcctttagttcttctgCtgtgcccttatctggaaaca	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148524275C>A	ENST00000320356.2	-	7	830	c.709G>T	c.(709-711)Gca>Tca	p.A237S	EZH2_ENST00000478654.1_Missense_Mutation_p.A228S|EZH2_ENST00000541220.1_Missense_Mutation_p.A228S|EZH2_ENST00000350995.2_Missense_Mutation_p.A198S|EZH2_ENST00000483967.1_Missense_Mutation_p.A228S|EZH2_ENST00000460911.1_Missense_Mutation_p.A237S|EZH2_ENST00000476773.1_Missense_Mutation_p.A228S|EZH2_ENST00000536783.1_Missense_Mutation_p.A128S	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	237	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGTTCTTCTGCTGTGCCCTTA	0.368			Mis		DLBCL								False	0	False	7:148524275	0	A	148524275	C	A	148524275	3	1	88	1	0	0	0	0	1	0	0	0	5367	797	28	3	1602	3	EZH2	7	148524275	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13118	148524275	10614388	8703	16415											
PDIA4	9601	broad.mit.edu	37	chr7	148702352	148702352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacatcctccccactctcgCtgagccccaggtccttcacc	6	20	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148702352C>T	ENST00000286091.4	-	9	1635	c.1403G>A	c.(1402-1404)aGc>aAc	p.S468N		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	468					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCCACTCTCGCTGAGCCCCAG	0.582											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	7:148702352	0	T	148702352	C	T	148702352	3	4	88	1	0	0	0	0	1	0	0	0	11738	797	28	2	542	2	PDIA4	7	148702352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178077	148702352	10436311	8704	16416											
PDIA4	9601	broad.mit.edu	37	chr7	148718166	148718166	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccttaacttccaagtcGtcttcttcctcatcatcatc	2	15	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148718166G>A	ENST00000286091.4	-	2	394	c.162C>T	c.(160-162)gaC>gaT	p.D54D		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	54	Asp/Glu-rich (acidic).|Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTTCCAAGTCGtcttcttcct	0.418													False	0	False	7:148718166	0	A	148718166	G	A	148718166	2	1	88	1	0	0	0	0	0	0	0	1	11738	1136	40	1		1	PDIA4	7	148718166	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15814	148718166	10420497	8705	16417											
ZNF786	136051	broad.mit.edu	37	chr7	148768238	148768238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggcggaagcgcttgtcGcacttcaggcactggaaggg	15	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148768238G>A	ENST00000316286.9	-	3	1640	c.1368C>T	c.(1366-1368)tgC>tgT	p.C456C	ZNF786_ENST00000491431.1_Silent_p.C542C|ZNF786_ENST00000451334.3_Silent_p.C505C			Q8N393	ZN786_HUMAN	zinc finger protein 786	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGCGCTTGTCGCACTTCAGGC	0.632													False	0	False	7:148768238	0	A	148768238	G	A	148768238	2	1	88	1	0	0	0	0	0	0	0	1	18240	1079	38	1		1	ZNF786	7	148768238	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50072	148768238	10370425	8706	16418											
ZNF425	155054	broad.mit.edu	37	chr7	148800888	148800888	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcgggacactggaagggcCtctctccactgtgcttatac	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148800888C>A	ENST00000378061.2	-	4	2207	c.2075G>T	c.(2074-2076)aGg>aTg	p.R692M		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	692					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGGAAGGGCCTCTCTCCACT	0.562													False	0	True	7:148800888	0	A	148800888	C	A	148800888	3	1	88	1	0	0	0	0	1	0	0	0	17982	681	24	3	187	3	ZNF425	7	148800888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32650	148800888	10337775	8707	16419											
ZNF425	155054	broad.mit.edu	37	chr7	148801223	148801223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactcaccgcacgcgaagggCttctcgtccctgtgcatccg	10	17	2	0	rs143783393		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801223C>A	ENST00000378061.2	-	4	1872	c.1740G>T	c.(1738-1740)aaG>aaT	p.K580N		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	580					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACGCGAAGGGCTTCTCGTCCC	0.597													False	0	True	7:148801223	0	A	148801223	C	A	148801223	3	1	88	1	0	0	0	0	1	0	0	0	17982	796	28	3	522	3	ZNF425	7	148801223	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335	148801223	10337440	8708	16420											
ZNF425	155054	broad.mit.edu	37	chr7	148801589	148801589	+	Silent	SNP	G	G	A													ctgtgcaggcgctggtgggcGcgcatggcgttcctccagaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801589G>A	ENST00000378061.2	-	4	1506	c.1374C>T	c.(1372-1374)cgC>cgT	p.R458R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	458					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R458R(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTGGTGGGCGCGCATGGCGT	0.662													False	0	True	7:148801589	0	A	148801589	G	A	148801589	2	1	88	1	0	0	0	0	0	0	0	1	17982	1074	38	1		1	ZNF425	7	148801589	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	366	148801589	10337074	8709	16421	199	2									
ZNF425	155054	broad.mit.edu	37	chr7	148801594	148801594	+	Missense_Mutation	SNP	T	T	C													caggcgctggtgggcgcgcaTggcgttcctccagaagaagc					rs148457097		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801594T>C	ENST00000378061.2	-	4	1501	c.1369A>G	c.(1369-1371)Atg>Gtg	p.M457V		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	457					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGGCGCGCATGGCGTTCCTC	0.672													False	0	False	7:148801594	0	C	148801594	T	C	148801594	3	2	88	1	0	0	0	0	1	0	0	0	17982	1464	51	4	893	4	ZNF425	7	148801594	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5	148801594	10337069	8710	16422	199	2									
ZNF425	155054	broad.mit.edu	37	chr7	148801988	148801988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggaagggcttctctccGctgtgcagccgcaagtgctc	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801988G>A	ENST00000378061.2	-	4	1107	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	325					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTTCTCTCCGCTGTGCAGCC	0.667													False	0	False	7:148801988	0	A	148801988	G	A	148801988	2	1	88	1	0	0	0	0	0	0	0	1	17982	1078	38	1		1	ZNF425	7	148801988	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	394	148801988	10336675	8711	16423											
ZNF398	0	broad.mit.edu	37	chr7	148851044	148851044	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcatgcagacatctgAatgggactccgagtgcctta	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148851044A>C	ENST00000475153.1	+	2	299	c.32A>C	c.(31-33)gAa>gCa	p.E11A	ZNF398_ENST00000540950.1_Missense_Mutation_p.E16A|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000426851.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	11					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAGACATCTGAATGGGACTCC	0.498													False	0	False	7:148851044	0	C	148851044	A	C	148851044	3	2	88	1	0	0	0	0	1	0	0	0	17968	246	9	4	38	4	ZNF398	7	148851044	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49056	148851044	10287619	8712	16424											
ZNF398	0	broad.mit.edu	37	chr7	148851380	148851380	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagaacctgctgcgcaacaGgaacttctggatcctgcggc	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148851380G>T	ENST00000475153.1	+	2	635	c.368G>T	c.(367-369)aGg>aTg	p.R123M	ZNF398_ENST00000540950.1_Missense_Mutation_p.R128M|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000426851.2_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	123					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTGCGCAACAGGAACTTCTGG	0.537													False	0	False	7:148851380	0	T	148851380	G	T	148851380	3	4	88	1	0	0	0	0	1	0	0	0	17968	1000	35	3	374	3	ZNF398	7	148851380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	336	148851380	10287283	8713	16425											
ZNF282	8427	broad.mit.edu	37	chr7	148921240	148921240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccctggcgggctgcggcGgagcctcctcctgcacggcg	16	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148921240G>A	ENST00000262085.3	+	8	1622	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	506					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GGGCTGCGGCGGAGCCTCCTC	0.781													False	0	False	7:148921240	0	A	148921240	G	A	148921240	3	1	88	1	0	0	0	0	1	0	0	0	17902	1116	39	1	1547	1	ZNF282	7	148921240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69860	148921240	10217423	8714	16426											
ZNF282	8427	broad.mit.edu	37	chr7	148921304	148921304	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgagtgcggcaagagcttCggcgtgcgcaagagcctcat	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148921304C>T	ENST00000262085.3	+	8	1686	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	527					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GCAAGAGCTTCGGCGTGCGCA	0.697													False	0	False	7:148921304	0	T	148921304	C	T	148921304	2	4	88	1	0	0	0	0	0	0	0	1	17902	883	31	1		1	ZNF282	7	148921304	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64	148921304	10217359	8715	16427											
ZNF212	7988	broad.mit.edu	37	chr7	148951066	148951066	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttgtacacctgaggagccaGaggagagccttaggcccagg	14	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148951066G>T	ENST00000335870.2	+	5	1176	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TGAGGAGCCAGAGGAGAGCCT	0.572													False	0	False	7:148951066	0	T	148951066	G	T	148951066	4	4	88	1	0	0	0	0	0	1	0	0	17851	943	33	3	1066	3	ZNF212	7	148951066	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29762	148951066	10187597	8716	16428											
ZNF777	27153	broad.mit.edu	37	chr7	149128930	149128930	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagcggaagcacttggcGcagtgcgtgcaggggtaggg	19	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149128930G>A	ENST00000247930.4	-	6	2756	c.2433C>T	c.(2431-2433)tgC>tgT	p.C811C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCACTTGGCGCAGTGCGTGC	0.721													False	0	False	7:149128930	0	A	149128930	G	A	149128930	2	1	88	1	0	0	0	0	0	0	0	1	18232	1079	38	1		1	ZNF777	7	149128930	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177864	149128930	10009733	8717	16429											
ZNF777	27153	broad.mit.edu	37	chr7	149129742	149129742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaagggccgctcgccgcGccggttccgctgctgctggc	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149129742G>A	ENST00000247930.4	-	6	1944	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGCTCGCCGCGCCGGTTCCGC	0.657													False	0	True	7:149129742	0	A	149129742	G	A	149129742	3	1	88	1	0	0	0	0	1	0	0	0	18232	1087	38	1	878	1	ZNF777	7	149129742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	812	149129742	10008921	8718	16430											
KRBA1	84626	broad.mit.edu	37	chr7	149419587	149419587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcccagccctcccaccCatagccccagcaggaggaag	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149419587C>T	ENST00000255992.10	+	6	940	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	KRBA1_ENST00000319551.8_Missense_Mutation_p.H181Y|KRBA1_ENST00000485033.2_Missense_Mutation_p.H181Y|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	181										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTCCCACCCATAGCCCCAG	0.637													False	0	True	7:149419587	0	T	149419587	C	T	149419587	3	4	88	1	0	0	0	0	1	0	0	0	8489	594	21	2	559	2	KRBA1	7	149419587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289845	149419587	9719076	8719	16431											
ZNF467	168544	broad.mit.edu	37	chr7	149462850	149462850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcgcttgccgcactcCgcgcacgggtagggccgctc	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149462850C>T	ENST00000302017.3	-	5	1154	c.741G>A	c.(739-741)gcG>gcA	p.A247A	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCGCACTCCGCGCACGGGT	0.677													False	0	False	7:149462850	0	T	149462850	C	T	149462850	2	4	88	1	0	0	0	0	0	0	0	1	18010	639	23	1		1	ZNF467	7	149462850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43263	149462850	9675813	8720	16432											
ZNF467	168544	broad.mit.edu	37	chr7	149467528	149467528	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagggttcctgttacctaCctgagcacacccccagtgct	8	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149467528C>T	ENST00000302017.3	-	3	565		c.e3+1		ZNF467_ENST00000484747.1_Splice_Site	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTTACCTACCTGAGCACAC	0.612													False	0	True	7:149467528	0	T	149467528	C	T	149467528	5	4	88	1	0	0	0	0	0	0	1	0	18010	521	18	2	1647	2	ZNF467	7	149467528	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4678	149467528	9671135	8721	16433											
SSPO	23145	broad.mit.edu	37	chr7	149473515	149473515	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacctggtaccctgtgccaGcctcgaccattacagccgcc	10	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149473515G>T	ENST00000378016.2	+	0	131							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGTGCCAGCCTCGACCAT	0.667													False	0	False	7:149473515	0	T	149473515	G	T	149473515	1	4	88	0	1	0	0	0	0	0	0	0	15271	971	34	3		3	SSPO	7	149473515	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5987	149473515	9665148	8722	16434											
SSPO	23145	broad.mit.edu	37	chr7	149473530	149473530	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccagcctcgaccattacaGccgcctgggctggcggctgg	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149473530G>A	ENST00000378016.2	+	0	146							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCATTACAGCCGCCTGGGC	0.662													False	0	False	7:149473530	0	A	149473530	G	A	149473530	1	1	88	0	1	0	0	0	0	0	0	0	15271	971	34	2		2	SSPO	7	149473530	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	149473530	9665133	8723	16435											
SSPO	23145	broad.mit.edu	37	chr7	149477527	149477527	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactactgccgccagcgctAtgtacccggtgacaccgtgc	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149477527A>G	ENST00000378016.2	+	0	1598							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCCAGCGCTATGTACCCGGT	0.647													False	0	False	7:149477527	0	G	149477527	A	G	149477527	1	3	88	0	1	0	0	0	0	0	0	0	15271	449	16	4		4	SSPO	7	149477527	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3997	149477527	9661136	8724	16436											
SSPO	23145	broad.mit.edu	37	chr7	149479934	149479934	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcagaccccctgttccaGgagctgtgctggtcaatggg	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149479934G>T	ENST00000378016.2	+	0	1900							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGTTCCAGGAGCTGTGCT	0.607													False	0	False	7:149479934	0	T	149479934	G	T	149479934	1	4	88	0	1	0	0	0	0	0	0	0	15271	1014	35	3		3	SSPO	7	149479934	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2407	149479934	9658729	8725	16437											
SSPO	23145	broad.mit.edu	37	chr7	149481008	149481008	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttatgtgtcctggtggCcaggagtaccgagagtgtgc	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149481008C>T	ENST00000378016.2	+	0	2490							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCCTGGTGGCCAGGAGTACC	0.622													False	0	False	7:149481008	0	T	149481008	C	T	149481008	1	4	88	0	1	0	0	0	0	0	0	0	15271	726	26	2		2	SSPO	7	149481008	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1074	149481008	9657655	8726	16438											
SSPO	23145	broad.mit.edu	37	chr7	149482714	149482714	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtatctgctggtgcgagagGccagtggcctattcacagtc	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149482714G>T	ENST00000378016.2	+	0	3130							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGCGAGAGGCCAGTGGCCT	0.637													False	0	False	7:149482714	0	T	149482714	G	T	149482714	1	4	88	0	1	0	0	0	0	0	0	0	15271	1203	42	3		3	SSPO	7	149482714	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1706	149482714	9655949	8727	16439											
SSPO	23145	broad.mit.edu	37	chr7	149489462	149489462	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggcagtgcccctgcctggTggacggtgcccgctactggc	15	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149489462T>C	ENST00000378016.2	+	0	5615							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGCCTGGTGGACGGTGCC	0.701													False	0	False	7:149489462	0	C	149489462	T	C	149489462	1	2	88	0	1	0	0	0	0	0	0	0	15271	1696	59	4		4	SSPO	7	149489462	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6748	149489462	9649201	8728	16440											
SSPO	23145	broad.mit.edu	37	chr7	149490411	149490411	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaggtgccagacggagCcctgtgaggggtgtgagcat	16	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149490411C>T	ENST00000378016.2	+	0	5887							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGACGGAGCCCTGTGAGGG	0.647													False	0	True	7:149490411	0	T	149490411	C	T	149490411	1	4	88	0	1	0	0	0	0	0	0	0	15271	739	26	2		2	SSPO	7	149490411	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	949	149490411	9648252	8729	16441											
SSPO	23145	broad.mit.edu	37	chr7	149499027	149499027	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgactgccaggatggctcGgacgaggatggctgtggtat	16	9	0	1	rs147684856	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149499027G>A	ENST00000378016.2	+	0	7479							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGATGGCTCGGACGAGGATG	0.697													False	0	False	7:149499027	0	A	149499027	G	A	149499027	1	1	88	0	1	0	0	0	0	0	0	0	15271	1103	39	1		1	SSPO	7	149499027	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8616	149499027	9639636	8730	16442											
SSPO	23145	broad.mit.edu	37	chr7	149509003	149509003	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggatatcccctaggtgaGcccacgtggtcaccctggac	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149509003G>A	ENST00000378016.2	+	0	9549							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTAGGTGAGCCCACGTGGT	0.672													False	0	True	7:149509003	0	A	149509003	G	A	149509003	1	1	88	0	1	0	0	0	0	0	0	0	15271	962	34	2		2	SSPO	7	149509003	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9976	149509003	9629660	8731	16443											
SSPO	23145	broad.mit.edu	37	chr7	149514988	149514988	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaacctggctcttcccccaGctcgtgtgcacacgggaagc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149514988G>T	ENST00000378016.2	+	0	11378							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTTCCCCCAGCTCGTGTGCA	0.662													False	0	False	7:149514988	0	T	149514988	G	T	149514988	1	4	88	0	1	0	0	0	0	0	0	0	15271	985	34	3		3	SSPO	7	149514988	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5985	149514988	9623675	8732	16444											
SSPO	23145	broad.mit.edu	37	chr7	149515002	149515002	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccagctcgtgtgcacacGggaagctgtcttgctccctg	11	16	1	0	rs73481854	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149515002G>A	ENST00000378016.2	+	0	11392							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGTGCACACGGGAAGCTGTC	0.672													False	0	True	7:149515002	0	A	149515002	G	A	149515002	1	1	88	0	1	0	0	0	0	0	0	0	15271	1116	39	1		1	SSPO	7	149515002	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	149515002	9623661	8733	16445											
SSPO	23145	broad.mit.edu	37	chr7	149520498	149520498	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggctccccctgtgctgggcTctgtgccacacacctgagcc	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149520498T>G	ENST00000378016.2	+	0	13316							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTGCTGGGCTCTGTGCCACA	0.662													False	0	False	7:149520498	0	G	149520498	T	G	149520498	1	3	88	0	1	0	0	0	0	0	0	0	15271	1551	54	4		4	SSPO	7	149520498	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5496	149520498	9618165	8734	16446											
ZNF862	643641	broad.mit.edu	37	chr7	149545235	149545235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgggcagcccggttccGgagcatcagagacccacctg	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149545235G>A	ENST00000223210.4	+	4	898	c.653G>A	c.(652-654)cGg>cAg	p.R218Q		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCCCGGTTCCGGAGCATCAGA	0.592													False	0	False	7:149545235	0	A	149545235	G	A	149545235	3	1	88	1	0	0	0	0	1	0	0	0	18277	1116	39	1	667	1	ZNF862	7	149545235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24737	149545235	9593428	8735	16447											
ZNF862	643641	broad.mit.edu	37	chr7	149559064	149559064	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagcagaggtttgacgcaGaccgacccccacagctgaag	11	14	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559064G>T	ENST00000223210.4	+	7	3060	c.2815G>T	c.(2815-2817)Gac>Tac	p.D939Y	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GTTTGACGCAGACCGACCCCC	0.547													False	0	True	7:149559064	0	T	149559064	G	T	149559064	3	4	88	1	0	0	0	0	1	0	0	0	18277	942	33	3	2841	3	ZNF862	7	149559064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13829	149559064	9579599	8736	16448											
ZNF862	643641	broad.mit.edu	37	chr7	149559262	149559262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattgcccagcacctcccgTtctccatgctctgcaaaaac	5	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559262T>C	ENST00000223210.4	+	7	3258	c.3013T>C	c.(3013-3015)Ttc>Ctc	p.F1005L	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1005					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCACCTCCCGTTCTCCATGCT	0.602													False	0	False	7:149559262	0	C	149559262	T	C	149559262	3	2	88	1	0	0	0	0	1	0	0	0	18277	1725	60	4	3039	4	ZNF862	7	149559262	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	198	149559262	9579401	8737	16449											
ZNF862	643641	broad.mit.edu	37	chr7	149559356	149559356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgtgtgcccatctccaCctcttgctgtgagcgggggt	14	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559356C>T	ENST00000223210.4	+	7	3352	c.3107C>T	c.(3106-3108)aCc>aTc	p.T1036I	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	1036					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCCATCTCCACCTCTTGCTGT	0.587													False	0	False	7:149559356	0	T	149559356	C	T	149559356	3	4	88	1	0	0	0	0	1	0	0	0	18277	507	18	2	3133	2	ZNF862	7	149559356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94	149559356	9579307	8738	16450											
ACTR3C	653857	broad.mit.edu	37	chr7	149983532	149983532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaacttcttctggttgatcGcattgatacccgtgtactgt	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149983532G>A	ENST00000539352.1	-	5	646	c.395C>T	c.(394-396)gCg>gTg	p.A132V	ACTR3C_ENST00000252071.4_Missense_Mutation_p.A132V	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	132					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding										CTGGTTGATCGCATTGATACC	0.418													False	0	False	7:149983532	0	A	149983532	G	A	149983532	3	1	88	1	0	0	0	0	1	0	0	0	214	1087	38	1	249	1	ACTR3C	7	149983532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	424176	149983532	9155131	8739	16451											
REPIN1	29803	broad.mit.edu	37	chr7	150068918	150068918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccagctagttgcccacaaGcgggtgcacgtagctgaggc	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150068918G>T	ENST00000397281.2	+	4	1077	c.588G>T	c.(586-588)aaG>aaT	p.K196N	REPIN1_ENST00000425389.2_Missense_Mutation_p.K196N|REPIN1_ENST00000444957.1_Missense_Mutation_p.K196N|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000540729.1_Missense_Mutation_p.K196N|REPIN1_ENST00000489432.2_Missense_Mutation_p.K253N|RP4-584D14.5_ENST00000488310.1_RNA	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	196					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TTGCCCACAAGCGGGTGCACG	0.746													False	0	False	7:150068918	0	T	150068918	G	T	150068918	3	4	88	1	0	0	0	0	1	0	0	0	13306	962	34	3	765	3	REPIN1	7	150068918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85386	150068918	9069745	8740	16452											
REPIN1	29803	broad.mit.edu	37	chr7	150068940	150068940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcacgtagctgaggccCtggaggaggccgcagccaag	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150068940C>A	ENST00000397281.2	+	4	1099	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	REPIN1_ENST00000425389.2_Missense_Mutation_p.L204M|REPIN1_ENST00000444957.1_Missense_Mutation_p.L204M|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000540729.1_Missense_Mutation_p.L204M|REPIN1_ENST00000489432.2_Missense_Mutation_p.L261M|RP4-584D14.5_ENST00000488310.1_RNA	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	204					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGCTGAGGCCCTGGAGGAGGC	0.741													False	0	True	7:150068940	0	A	150068940	C	A	150068940	3	1	88	1	0	0	0	0	1	0	0	0	13306	680	24	3	787	3	REPIN1	7	150068940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	150068940	9069723	8741	16453											
REPIN1	29803	broad.mit.edu	37	chr7	150069954	150069954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccacatccgggacggcGccttctgctgtgccatctgt	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150069954G>A	ENST00000397281.2	+	4	2113	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	REPIN1_ENST00000425389.2_Missense_Mutation_p.A542T|REPIN1_ENST00000444957.1_Missense_Mutation_p.A542T|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000540729.1_Missense_Mutation_p.A542T|REPIN1_ENST00000489432.2_Missense_Mutation_p.A599T	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	542					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGGGACGGCGCCTTCTGCTG	0.657													False	0	False	7:150069954	0	A	150069954	G	A	150069954	3	1	88	1	0	0	0	0	1	0	0	0	13306	1087	38	1	1801	1	REPIN1	7	150069954	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1014	150069954	9068709	8742	16454											
ZNF775	285971	broad.mit.edu	37	chr7	150094568	150094568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcgcaaccacacaggCgagcgcccgcacccctgccc	9	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150094568C>T	ENST00000329630.5	+	3	1106	c.999C>T	c.(997-999)ggC>ggT	p.G333G		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCACACAGGCGAGCGCCCGC	0.726													False	0	False	7:150094568	0	T	150094568	C	T	150094568	2	4	88	1	0	0	0	0	0	0	0	1	18230	755	27	1		1	ZNF775	7	150094568	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24614	150094568	9044095	8743	16455											
ZNF775	285971	broad.mit.edu	37	chr7	150094613	150094613	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtggccgcggcttccgccaGaagcagcacctgctcaagca	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150094613G>T	ENST00000329630.5	+	3	1151	c.1044G>T	c.(1042-1044)caG>caT	p.Q348H		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTTCCGCCAGAAGCAGCACC	0.741													False	0	False	7:150094613	0	T	150094613	G	T	150094613	3	4	88	1	0	0	0	0	1	0	0	0	18230	933	33	3	1050	3	ZNF775	7	150094613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	150094613	9044050	8744	16456											
GIMAP8	155038	broad.mit.edu	37	chr7	150171653	150171653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagagcaaaggcaggcGgacgagctcctggaaaaaat	14	7	0	2	rs149276246	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150171653G>A	ENST00000307271.3	+	4	1810	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	412						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.A412A(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AAAGGCAGGCGGACGAGCTCC	0.413													False	0	True	7:150171653	0	A	150171653	G	A	150171653	2	1	88	1	0	0	0	0	0	0	0	1	6430	1103	39	1		1	GIMAP8	7	150171653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77040	150171653	8967010	8745	16457											
GIMAP8	155038	broad.mit.edu	37	chr7	150174701	150174701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaaacaggccaggcccagGaaacccaggtgaaagctctt	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150174701G>A	ENST00000307271.3	+	5	2405	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	611						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCAGGCCCAGGAAACCCAGGT	0.453													False	0	True	7:150174701	0	A	150174701	G	A	150174701	3	1	88	1	0	0	0	0	1	0	0	0	6430	1175	41	2	1845	2	GIMAP8	7	150174701	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3048	150174701	8963962	8746	16458											
GIMAP4	55303	broad.mit.edu	37	chr7	150270098	150270098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttgaattaatcatgacaGcgttacagattgcttccttt	6	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150270098G>A	ENST00000255945.2	+	3	1115	c.940G>A	c.(940-942)Gcg>Acg	p.A314T	GIMAP4_ENST00000461940.1_Missense_Mutation_p.A328T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	314							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AATCATGACAGCGTTACAGAT	0.408													False	0	False	7:150270098	0	A	150270098	G	A	150270098	3	1	88	1	0	0	0	0	1	0	0	0	6426	971	34	2	946	2	GIMAP4	7	150270098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95397	150270098	8868565	8747	16459											
GIMAP1	170575	broad.mit.edu	37	chr7	150417218	150417218	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaggggccgggaagagcgcCactgggaacagcatcctggg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150417218C>A	ENST00000307194.5	+	3	266	c.126C>A	c.(124-126)gcC>gcA	p.A42A		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAAGAGCGCCACTGGGAACA	0.627													False	0	False	7:150417218	0	A	150417218	C	A	150417218	2	1	88	1	0	0	0	0	0	0	0	1	6424	581	21	3		3	GIMAP1	7	150417218	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147120	150417218	8721445	8748	16460											
GIMAP1	170575	broad.mit.edu	37	chr7	150417696	150417696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggagcaggaagcccaggtgGagcagctgctggggatggtc	20	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150417696G>A	ENST00000307194.5	+	3	744	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCCCAGGTGGAGCAGCTGCT	0.682													False	0	False	7:150417696	0	A	150417696	G	A	150417696	3	1	88	1	0	0	0	0	1	0	0	0	6424	1175	41	2	610	2	GIMAP1	7	150417696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478	150417696	8720967	8749	16461											
GIMAP5	55340	broad.mit.edu	37	chr7	150440033	150440033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacgagagtaactgggcatAcaaggcgctcctcagagtca	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150440033A>G	ENST00000358647.3	+	3	1173	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AACTGGGCATACAAGGCGCTC	0.453													False	0	False	7:150440033	0	G	150440033	A	G	150440033	3	3	88	1	0	0	0	0	1	0	0	0	6427	391	14	4	812	4	GIMAP5	7	150440033	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22337	150440033	8698630	8750	16462											
KCNH2	3757	broad.mit.edu	37	chr7	150648836	150648836	+	Missense_Mutation	SNP	C	C	T													gcacatgagcaagaacagcaCggccgcgccgtactctgagt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150648836C>T	ENST00000392968.2	-	5	2477	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	KCNH2_ENST00000430723.3_Missense_Mutation_p.V549M|KCNH2_ENST00000262186.5_Missense_Mutation_p.V549M|KCNH2_ENST00000330883.4_Missense_Mutation_p.V209M			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	549					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AAGAACAGCACGGCCGCGCCG	0.647													False	0	False	7:150648836	0	T	150648836	C	T	150648836	3	4	88	1	0	0	0	0	1	0	0	0	8082	536	19	1	2139	1	KCNH2	7	150648836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208803	150648836	8489827	8751	16463	200	2									
KCNH2	3757	broad.mit.edu	37	chr7	150648842	150648842	+	Missense_Mutation	SNP	C	C	T													gagcaagaacagcacggccgCgccgtactctgagtagcgat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150648842C>T	ENST00000392968.2	-	5	2471	c.1351G>A	c.(1351-1353)Gcg>Acg	p.A451T	KCNH2_ENST00000430723.3_Missense_Mutation_p.A547T|KCNH2_ENST00000262186.5_Missense_Mutation_p.A547T|KCNH2_ENST00000330883.4_Missense_Mutation_p.A207T			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	547			P -> L (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.A547T(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGCACGGCCGCGCCGTACTCT	0.647													False	0	False	7:150648842	0	T	150648842	C	T	150648842	3	4	88	1	0	0	0	0	1	0	0	0	8082	768	27	1	2145	1	KCNH2	7	150648842	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	150648842	8489821	8752	16464	200	2									
NOS3	4846	broad.mit.edu	37	chr7	150692340	150692340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaggggcccaagttccctCgtgtgaagaactgggaggtg	16	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150692340C>T	ENST00000297494.3	+	3	565	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	NOS3_ENST00000467517.1_Missense_Mutation_p.R70C|NOS3_ENST00000484524.1_Missense_Mutation_p.R70C|NOS3_ENST00000461406.1_5'UTR	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	70					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CAAGTTCCCTCGTGTGAAGAA	0.637													False	0	False	7:150692340	0	T	150692340	C	T	150692340	3	4	88	1	0	0	0	0	1	0	0	0	10612	884	31	1	214	1	NOS3	7	150692340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43498	150692340	8446323	8753	16465											
NOS3	4846	broad.mit.edu	37	chr7	150695754	150695754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggggggacccagccaacGtggagatcaccgaggtgggc	18	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150695754G>A	ENST00000297494.3	+	7	1159	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	NOS3_ENST00000467517.1_Missense_Mutation_p.V268M|NOS3_ENST00000484524.1_Missense_Mutation_p.V268M|NOS3_ENST00000461406.1_Missense_Mutation_p.V62M	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	268	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCCAGCCAACGTGGAGATCAC	0.662													False	0	False	7:150695754	0	A	150695754	G	A	150695754	3	1	88	1	0	0	0	0	1	0	0	0	10612	1145	40	1	824	1	NOS3	7	150695754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3414	150695754	8442909	8754	16466											
NOS3	4846	broad.mit.edu	37	chr7	150696357	150696357	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctggaaattgggggcCtggagttccccgcagccccc	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150696357C>A	ENST00000297494.3	+	9	1393	c.1036C>A	c.(1036-1038)Ctg>Atg	p.L346M	NOS3_ENST00000467517.1_Missense_Mutation_p.L346M|NOS3_ENST00000484524.1_Missense_Mutation_p.L346M|NOS3_ENST00000461406.1_Missense_Mutation_p.L140M	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	346	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AATTGGGGGCCTGGAGTTCCC	0.637													False	0	False	7:150696357	0	A	150696357	C	A	150696357	3	1	88	1	0	0	0	0	1	0	0	0	10612	680	24	3	1066	3	NOS3	7	150696357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	603	150696357	8442306	8755	16467											
NOS3	4846	broad.mit.edu	37	chr7	150696386	150696386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcagcccccttcagtggCtggtacatgagcactgagat	11	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150696386C>T	ENST00000297494.3	+	9	1422	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	NOS3_ENST00000467517.1_Silent_p.G355G|NOS3_ENST00000484524.1_Silent_p.G355G|NOS3_ENST00000461406.1_Silent_p.G149G	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	355	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCTTCAGTGGCTGGTACATGA	0.642													False	0	False	7:150696386	0	T	150696386	C	T	150696386	2	4	88	1	0	0	0	0	0	0	0	1	10612	784	28	2		2	NOS3	7	150696386	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	150696386	8442277	8756	16468											
NOS3	4846	broad.mit.edu	37	chr7	150698688	150698688	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcaccaggaagaagacCtttaaagaagtggccaagtg	12	8	1	3	rs149990866	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150698688C>A	ENST00000297494.3	+	12	1842	c.1485C>A	c.(1483-1485)acC>acA	p.T495T	NOS3_ENST00000467517.1_Silent_p.T495T|NOS3_ENST00000484524.1_Silent_p.T495T|NOS3_ENST00000461406.1_Silent_p.T289T	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	495	Calmodulin-binding (Potential).				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGAAGAAGACCTTTAAAGAAG	0.642													False	0	True	7:150698688	0	A	150698688	C	A	150698688	2	1	88	1	0	0	0	0	0	0	0	1	10612	668	24	3		3	NOS3	7	150698688	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2302	150698688	8439975	8757	16469											
NOS3	4846	broad.mit.edu	37	chr7	150704352	150704352	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttccgaggctgggcccaGgctgccttccaggtgagccc	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150704352G>T	ENST00000297494.3	+	17	2457	c.2100G>T	c.(2098-2100)caG>caT	p.Q700H	NOS3_ENST00000461406.1_Missense_Mutation_p.Q494H	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	700	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCTGGGCCCAGGCTGCCTTCC	0.682													False	0	False	7:150704352	0	T	150704352	G	T	150704352	3	4	88	1	0	0	0	0	1	0	0	0	10612	991	35	3	2444	3	NOS3	7	150704352	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5664	150704352	8434311	8758	16470											
NOS3	4846	broad.mit.edu	37	chr7	150710326	150710326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggttgcttgcagggctgcaGcccactcccatgactttggt	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150710326G>T	ENST00000297494.3	+	25	3471	c.3114G>T	c.(3112-3114)caG>caT	p.Q1038H	NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000605938.1_3'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.Q832H	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	1038					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CAGGGCTGCAGCCCACTCCCA	0.672											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	7:150710326	0	T	150710326	G	T	150710326	3	4	88	1	0	0	0	0	1	0	0	0	10612	962	34	3	3490	3	NOS3	7	150710326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5974	150710326	8428337	8759	16471											
FASTK	10922	broad.mit.edu	37	chr7	150775933	150775933	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaccccctccagcacctgcCaggctgctgatcagatgctg	9	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150775933C>T	ENST00000297532.6	-	3	758	c.681G>A	c.(679-681)ctG>ctA	p.L227L	FASTK_ENST00000353841.2_Silent_p.L86L|FASTK_ENST00000482571.1_Intron|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000540185.1_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	227					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CAGCACCTGCCAGGCTGCTGA	0.617													False	0	False	7:150775933	0	T	150775933	C	T	150775933	2	4	88	1	0	0	0	0	0	0	0	1	5724	581	21	2		2	FASTK	7	150775933	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65607	150775933	8362730	8760	16472											
FASTK	10922	broad.mit.edu	37	chr7	150776915	150776915	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccccaaacagcagggCtgtactggagggatcagcag	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150776915C>T	ENST00000540185.1	-	2	679	c.75G>A	c.(73-75)caG>caA	p.Q25Q	FASTK_ENST00000353841.2_Intron|FASTK_ENST00000482571.1_Silent_p.Q59Q|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000297532.6_Silent_p.Q59Q			Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	59					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AACAGCAGGGCTGTACTGGAG	0.637													False	0	True	7:150776915	0	T	150776915	C	T	150776915	2	4	88	1	0	0	0	0	0	0	0	1	5724	796	28	2		2	FASTK	7	150776915	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	982	150776915	8361748	8761	16473											
AGAP3	116988	broad.mit.edu	37	chr7	150837093	150837093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagctgaggtactcagttCcagccccaagctggatcctc	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150837093C>T	ENST00000397238.2	+	13	1694	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	529	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GTACTCAGTTCCAGCCCCAAG	0.652													False	0	False	7:150837093	0	T	150837093	C	T	150837093	3	4	88	1	0	0	0	0	1	0	0	0	369	855	30	2	1811	2	AGAP3	7	150837093	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60178	150837093	8301570	8762	16474											
AGAP3	116988	broad.mit.edu	37	chr7	150839253	150839253	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctgctgtgcgacagactCgactggggaaccagaacgca	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150839253C>T	ENST00000397238.2	+	15	1963	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	AGAP3_ENST00000463381.1_Nonsense_Mutation_p.R324*	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	619	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCGACAGACTCGACTGGGGAA	0.627													False	0	False	7:150839253	0	T	150839253	C	T	150839253	4	4	88	1	0	0	0	0	0	1	0	0	369	876	31	1	2088	1	AGAP3	7	150839253	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2160	150839253	8299410	8763	16475											
AGAP3	116988	broad.mit.edu	37	chr7	150840658	150840658	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtgccatggccaacgTtgtcttcacgcagctgctca	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150840658T>G	ENST00000397238.2	+	17	2504	c.2504T>G	c.(2503-2505)gTt>gGt	p.V835G	AGAP3_ENST00000463381.1_Missense_Mutation_p.V504G	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	799					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ATGGCCAACGTTGTCTTCACG	0.567													False	0	False	7:150840658	0	G	150840658	T	G	150840658	3	3	88	1	0	0	0	0	1	0	0	0	369	1725	60	4	2637	4	AGAP3	7	150840658	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1405	150840658	8298005	8764	16476											
GBX1	2636	broad.mit.edu	37	chr7	150846225	150846225	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgagctgtacaccttcccCtctgctgtgaggagcaagaa	10	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150846225C>A	ENST00000297537.4	-	2	542	c.543G>T	c.(541-543)gaG>gaT	p.E181D		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	181						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACCTTCCCCTCTGCTGTGA	0.582													False	0	True	7:150846225	0	A	150846225	C	A	150846225	3	1	88	1	0	0	0	0	1	0	0	0	6323	680	24	3	551	3	GBX1	7	150846225	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5567	150846225	8292438	8765	16477											
GBX1	2636	broad.mit.edu	37	chr7	150864194	150864194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctcatcagcttccaGcccaccctctgggcgtcggc	10	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150864194G>A	ENST00000297537.4	-	1	441	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	GBX1_ENST00000475831.1_5'UTR	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	148	Pro-rich.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGCTTCCAGCCCACCCTCT	0.701													False	0	True	7:150864194	0	A	150864194	G	A	150864194	2	1	88	1	0	0	0	0	0	0	0	1	6323	962	34	2		2	GBX1	7	150864194	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17969	150864194	8274469	8766	16478											
ASB10	136371	broad.mit.edu	37	chr7	150873210	150873210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctcacctagtagagcaCgccctcaaaatccagctgca	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150873210C>T	ENST00000422024.1	-	5	1653	c.1528G>A	c.(1528-1530)Gtg>Atg	p.V510M	ASB10_ENST00000434669.1_Missense_Mutation_p.V472M|ASB10_ENST00000275838.1_Missense_Mutation_p.V427M|ASB10_ENST00000420175.2_Missense_Mutation_p.V465M|ASB10_ENST00000377867.3_Missense_Mutation_p.V450M	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	465					intracellular signal transduction			p.V427L(1)|p.V465L(1)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAGTAGAGCACGCCCTCAAAA	0.672													False	0	False	7:150873210	0	T	150873210	C	T	150873210	3	4	88	1	0	0	0	0	1	0	0	0	1018	536	19	1	14	1	ASB10	7	150873210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9016	150873210	8265453	8767	16479											
ASB10	136371	broad.mit.edu	37	chr7	150878501	150878501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctcttcttcctcggacCgaccatccactctcgctcca	4	20	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150878501C>T	ENST00000422024.1	-	3	889	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	ASB10_ENST00000434669.1_Missense_Mutation_p.R255Q|ASB10_ENST00000275838.1_Missense_Mutation_p.R210Q|ASB10_ENST00000420175.2_Missense_Mutation_p.R210Q|ASB10_ENST00000377867.3_Missense_Mutation_p.R195Q	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	210					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCTCGGACCGACCATCCAC	0.637													False	0	True	7:150878501	0	T	150878501	C	T	150878501	3	4	88	1	0	0	0	0	1	0	0	0	1018	652	23	1	786	1	ASB10	7	150878501	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5291	150878501	8260162	8768	16480											
ASB10	136371	broad.mit.edu	37	chr7	150884173	150884173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtctgtcatcgaggggCtctccctgccccttgcactc	12	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150884173C>T	ENST00000422024.1	-	1	305	c.180G>A	c.(178-180)gaG>gaA	p.E60E	ASB10_ENST00000434669.1_Silent_p.E60E|ASB10_ENST00000275838.1_Silent_p.E15E|ASB10_ENST00000420175.2_Silent_p.E15E|ASB10_ENST00000377867.3_Intron	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	15					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCGAGGGGCTCTCCCTGCC	0.617													False	0	True	7:150884173	0	T	150884173	C	T	150884173	2	4	88	1	0	0	0	0	0	0	0	1	1018	796	28	2		2	ASB10	7	150884173	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5672	150884173	8254490	8769	16481											
CHPF2	54480	broad.mit.edu	37	chr7	150931242	150931242	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcgaggctgtaggggagCgaggagggccacagaatcca	18	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150931242C>T	ENST00000035307.2	+	1	1658	c.145C>T	c.(145-147)Cga>Tga	p.R49*	CHPF2_ENST00000495645.1_Nonsense_Mutation_p.R41*	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	49						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGTAGGGGAGCGAGGAGGGCC	0.592													False	0	False	7:150931242	0	T	150931242	C	T	150931242	4	4	88	1	0	0	0	0	0	1	0	0	3392	760	27	1	147	1	CHPF2	7	150931242	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47069	150931242	8207421	8770	16482											
CHPF2	54480	broad.mit.edu	37	chr7	150935457	150935457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgaccggcaggcttctgCggagggctgcttctacaacg	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150935457C>T	ENST00000035307.2	+	4	3522	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V	CHPF2_ENST00000495645.1_Missense_Mutation_p.A662V	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	670						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CAGGCTTCTGCGGAGGGCTGC	0.711													False	0	False	7:150935457	0	T	150935457	C	T	150935457	3	4	88	1	0	0	0	0	1	0	0	0	3392	768	27	1	2023	1	CHPF2	7	150935457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4215	150935457	8203206	8771	16483											
SMARCD3	6604	broad.mit.edu	37	chr7	150936233	150936233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctccagctcctgcctgcGctgctggatctttagaggaa	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150936233G>A	ENST00000392811.2	-	14	1843	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	SMARCD3_ENST00000262188.8_Missense_Mutation_p.R470C|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R457C	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	470					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTGCCTGCGCTGCTGGATC	0.572													False	0	True	7:150936233	0	A	150936233	G	A	150936233	3	1	88	1	0	0	0	0	1	0	0	0	14859	1087	38	1	47	1	SMARCD3	7	150936233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	776	150936233	8202430	8772	16484											
WDR86	349136	broad.mit.edu	37	chr7	151079024	151079024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcagctctccagactgCgcgtcgaaggcccgggcgca	13	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151079024C>T	ENST00000469830.2	-	5	1011	c.970G>A	c.(970-972)Gca>Aca	p.A324T	WDR86_ENST00000463000.1_Intron|WDR86_ENST00000334493.6_Silent_p.A302A|WDR86_ENST00000477459.1_Missense_Mutation_p.R129H	NM_001284260.1	NP_001271189.1	Q86TI4	WDR86_HUMAN	WD repeat domain 86	338										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGACTGCGCGTCGAAGG	0.706													False	0	False	7:151079024	0	T	151079024	C	T	151079024	3	4	88	1	0	0	0	0	1	0	0	0	17418	755	27	1	232	1	WDR86	7	151079024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142791	151079024	8059639	8773	16485											
WDR86	349136	broad.mit.edu	37	chr7	151097270	151097270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgatggtgcagtcggcgCtgcatgtgaaggcagcctca	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151097270C>A	ENST00000334493.6	-	2	651	c.221G>T	c.(220-222)aGc>aTc	p.S74I	WDR86_ENST00000469830.2_Missense_Mutation_p.S74I|WDR86_ENST00000477459.1_5'UTR	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	74										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGTCGGCGCTGCATGTGAA	0.607													False	0	False	7:151097270	0	A	151097270	C	A	151097270	3	1	88	1	0	0	0	0	1	0	0	0	17418	797	28	3	929	3	WDR86	7	151097270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18246	151097270	8041393	8774	16486											
PRKAG2	51422	broad.mit.edu	37	chr7	151372653	151372653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttcaggctcgtgcttataGgattccaggggaaacgtgtg	14	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151372653G>A	ENST00000287878.4	-	4	1041	c.537C>T	c.(535-537)tcC>tcT	p.S179S	PRKAG2_ENST00000492843.1_Silent_p.S55S|PRKAG2_ENST00000433631.2_Silent_p.S55S|PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_Silent_p.S135S	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	179					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CGTGCTTATAGGATTCCAGGG	0.587													False	0	False	7:151372653	0	A	151372653	G	A	151372653	2	1	88	1	0	0	0	0	0	0	0	1	12577	987	35	2		2	PRKAG2	7	151372653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275383	151372653	7766010	8775	16487											
GALNTL5	168391	broad.mit.edu	37	chr7	151668056	151668056	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attttaaccatacaaacccaGaacttcataaagaactttta	2	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151668056G>T	ENST00000392800.2	+	3	528	c.274G>T	c.(274-276)Gaa>Taa	p.E92*	GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.E92*	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	92						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TACAAACCCAGAACTTCATAA	0.338													False	0	False	7:151668056	0	T	151668056	G	T	151668056	4	4	88	1	0	0	0	0	0	1	0	0	6267	943	33	3	280	3	GALNTL5	7	151668056	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	295403	151668056	7470607	8776	16488											
DPP6	1804	broad.mit.edu	37	chr7	154379458	154379458	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccagcttgtcaccagggCtgttttcttcattacatcac	7	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154379458C>T	ENST00000406326.1	+	6	1129	c.726C>T	c.(724-726)ggC>ggT	p.G242G	DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000377770.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			gtcaccagggctgttttcttc	0.468													False	0	True	7:154379458	0	T	154379458	C	T	154379458	2	4	88	1	0	0	0	0	0	0	0	1	4760	812	28	2		2	DPP6	7	154379458	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2711402	154379458	4759205	8777	16489											
DPP6	1804	broad.mit.edu	37	chr7	154596655	154596655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagcacggaggacctgcctCggagacgacaactctacagg	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154596655C>T	ENST00000404039.1	+	15	1923	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	DPP6_ENST00000427557.1_Missense_Mutation_p.R403W|DPP6_ENST00000332007.3_Missense_Mutation_p.R448W|DPP6_ENST00000377770.3_Missense_Mutation_p.R510W	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	510					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGACCTGCCTCGGAGACGACA	0.557													False	0	False	7:154596655	0	T	154596655	C	T	154596655	3	4	88	1	0	0	0	0	1	0	0	0	4760	875	31	1	1702	1	DPP6	7	154596655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217197	154596655	4542008	8778	16490											
PAXIP1	22976	broad.mit.edu	37	chr7	154767875	154767875	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaatcttgttcctcatttTctacttcctcctcctcttcc	3	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154767875T>G	ENST00000404141.1	-	6	759	c.605A>C	c.(604-606)gAa>gCa	p.E202A	PAXIP1_ENST00000397192.1_Missense_Mutation_p.E202A|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	202					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ttcctcattttctacttcctc	0.438													False	0	True	7:154767875	0	G	154767875	T	G	154767875	3	3	88	1	0	0	0	0	1	0	0	0	11555	1783	62	4	2668	4	PAXIP1	7	154767875	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	171220	154767875	4370788	8779	16491											
HTR5A	3361	broad.mit.edu	37	chr7	154863025	154863025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggccatagccctggaccGctactggtccatcacgcgcc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863025G>A	ENST00000287907.2	+	1	992	c.416G>A	c.(415-417)cGc>cAc	p.R139H	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	139						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCCCTGGACCGCTACTGGTCC	0.632													False	0	False	7:154863025	0	A	154863025	G	A	154863025	3	1	88	1	0	0	0	0	1	0	0	0	7500	1087	38	1	418	1	HTR5A	7	154863025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95150	154863025	4275638	8780	16492											
HTR5A	3361	broad.mit.edu	37	chr7	154863096	154863096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtctccaacgtcatgatcGcgctcacctgggcactctcc	9	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863096G>A	ENST00000287907.2	+	1	1063	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	163						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGTCATGATCGCGCTCACCTG	0.627													False	0	False	7:154863096	0	A	154863096	G	A	154863096	3	1	88	1	0	0	0	0	1	0	0	0	7500	1087	38	1	489	1	HTR5A	7	154863096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71	154863096	4275567	8781	16493											
HTR5A	3361	broad.mit.edu	37	chr7	154863212	154863212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcgagccttcctacgcCgtgttctccaccgtaggcgc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863212C>T	ENST00000287907.2	+	1	1179	c.603C>T	c.(601-603)gcC>gcT	p.A201A	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	201						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTCCTACGCCGTGTTCTCCA	0.612													False	0	False	7:154863212	0	T	154863212	C	T	154863212	2	4	88	1	0	0	0	0	0	0	0	1	7500	639	23	1		1	HTR5A	7	154863212	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	154863212	4275451	8782	16494											
HTR5A	3361	broad.mit.edu	37	chr7	154863276	154863276	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttcgtgtactggaagAtctacaaggctgccaagttc	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863276A>T	ENST00000287907.2	+	1	1243	c.667A>T	c.(667-669)Atc>Ttc	p.I223F		NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	223						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTACTGGAAGATCTACAAGGC	0.567													False	0	False	7:154863276	0	T	154863276	A	T	154863276	3	4	88	1	0	0	0	0	1	0	0	0	7500	333	12	5	669	5	HTR5A	7	154863276	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64	154863276	4275387	8783	16495											
INSIG1	3638	broad.mit.edu	37	chr7	155093360	155093360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatgggccagtgtcatgcGctgcatagcagtttttgttg	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155093360G>T	ENST00000340368.4	+	3	708	c.497G>T	c.(496-498)cGc>cTc	p.R166L	INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	166					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGTCATGCGCTGCATAGCA	0.433													False	0	False	7:155093360	0	T	155093360	G	T	155093360	3	4	88	1	0	0	0	0	1	0	0	0	7815	1087	38	3	503	3	INSIG1	7	155093360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230084	155093360	4045303	8784	16496											
CNPY1	285888	broad.mit.edu	37	chr7	155301652	155301652	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttaaattcttggtatatTttgtctcctttcctaggagc	6	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155301652T>G	ENST00000321736.5	-	2	243	c.81A>C	c.(79-81)aaA>aaC	p.K27N	CNPY1_ENST00000406197.1_Missense_Mutation_p.K27N	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	27										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTGGTATATTTTGTCTCCTT	0.393													False	0	True	7:155301652	0	G	155301652	T	G	155301652	3	3	88	1	0	0	0	0	1	0	0	0	3650	1838	64	4	209	4	CNPY1	7	155301652	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208292	155301652	3837011	8785	16497											
RBM33	155435	broad.mit.edu	37	chr7	155504066	155504066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccccaaggatgatgatgaCcccgccacccgtgactccac	9	17	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155504066C>T	ENST00000401878.3	+	8	1316	c.1118C>T	c.(1117-1119)aCc>aTc	p.T373I	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	373	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATGATGATGACCCCGCCACCC	0.602													False	0	True	7:155504066	0	T	155504066	C	T	155504066	3	4	88	1	0	0	0	0	1	0	0	0	13209	507	18	2	1148	2	RBM33	7	155504066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202414	155504066	3634597	8786	16498											
RBM33	155435	broad.mit.edu	37	chr7	155556568	155556568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggcttccccagcctccGgaagtgggaccacagcctgc	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155556568G>A	ENST00000401878.3	+	15	3240	c.3042G>A	c.(3040-3042)ccG>ccA	p.P1014P	RBM33_ENST00000341148.3_5'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1014							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CCCAGCCTCCGGAAGTGGGAC	0.657													False	0	False	7:155556568	0	A	155556568	G	A	155556568	2	1	88	1	0	0	0	0	0	0	0	1	13209	1103	39	1		1	RBM33	7	155556568	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52502	155556568	3582095	8787	16499											
RBM33	155435	broad.mit.edu	37	chr7	155559212	155559212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtcccatgggccgggggCgcctgatgccaaacaagcag	15	14	0	1	rs146087306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155559212C>T	ENST00000401878.3	+	16	3436	c.3238C>T	c.(3238-3240)Cgc>Tgc	p.R1080C	RBM33_ENST00000341148.3_Missense_Mutation_p.R16C	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1080							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GGGCCGGGGGCGCCTGATGCC	0.612													False	0	True	7:155559212	0	T	155559212	C	T	155559212	3	4	88	1	0	0	0	0	1	0	0	0	13209	768	27	1	3300	1	RBM33	7	155559212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2644	155559212	3579451	8788	16500											
RNF32	140545	broad.mit.edu	37	chr7	156468427	156468427	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatcctgtgctcatacaAcaccaacattgaagagctct	6	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156468427A>C	ENST00000405335.1	+	9	1131	c.722A>C	c.(721-723)aAc>aCc	p.N241T	RNF32_ENST00000317955.5_Missense_Mutation_p.N241T|RNF32_ENST00000392743.2_Missense_Mutation_p.N241T|RNF32_ENST00000311822.8_Missense_Mutation_p.N241T|RNF32_ENST00000432459.2_Missense_Mutation_p.N241T|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000343665.4_Missense_Mutation_p.N217T			Q9H0A6	RNF32_HUMAN	ring finger protein 32	241						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGCTCATACAACACCAACATT	0.517													False	0	False	7:156468427	0	C	156468427	A	C	156468427	3	2	88	1	0	0	0	0	1	0	0	0	13567	43	2	4	748	4	RNF32	7	156468427	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	909215	156468427	2670236	8789	16501											
RNF32	140545	broad.mit.edu	37	chr7	156468458	156468458	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagagctctttgcagaaatCgatcagtgcttggccataaa	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156468458C>T	ENST00000405335.1	+	9	1162	c.753C>T	c.(751-753)atC>atT	p.I251I	RNF32_ENST00000317955.5_Silent_p.I251I|RNF32_ENST00000392743.2_Silent_p.I251I|RNF32_ENST00000311822.8_Silent_p.I251I|RNF32_ENST00000432459.2_Silent_p.I251I|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000343665.4_Silent_p.I227I			Q9H0A6	RNF32_HUMAN	ring finger protein 32	251						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTGCAGAAATCGATCAGTGCT	0.488													False	0	False	7:156468458	0	T	156468458	C	T	156468458	2	4	88	1	0	0	0	0	0	0	0	1	13567	874	31	1		1	RNF32	7	156468458	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	156468458	2670205	8790	16502											
LMBR1	64327	broad.mit.edu	37	chr7	156555863	156555863	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatagggtagatagaactcCcagagatctattaaaaaaaa	7	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156555863C>T	ENST00000353442.5	-	7	794	c.558G>A	c.(556-558)tgG>tgA	p.W186*	LMBR1_ENST00000540390.1_Nonsense_Mutation_p.W165*|LMBR1_ENST00000359422.4_Nonsense_Mutation_p.W34*|LMBR1_ENST00000354505.4_Nonsense_Mutation_p.W186*	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1							integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GATAGAACTCCCAGAGATCta	0.289													False	0	True	7:156555863	0	T	156555863	C	T	156555863	4	4	88	1	0	0	0	0	0	1	0	0	8893	624	22	2	958	2	LMBR1	7	156555863	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87405	156555863	2582800	8791	16503											
LMBR1	64327	broad.mit.edu	37	chr7	156589187	156589187	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcaagattccacaaacCtataaaaagggtaacaagaa	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156589187C>A	ENST00000353442.5	-	5	556		c.e5-1		LMBR1_ENST00000540390.1_Splice_Site|LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000354505.4_Splice_Site	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1							integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TTCCACAAACCTATAAAAAGG	0.313													False	0	False	7:156589187	0	A	156589187	C	A	156589187	5	1	88	1	0	0	0	0	0	0	1	0	8893	695	24	3	1205	3	LMBR1	7	156589187	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33324	156589187	2549476	8792	16504											
MNX1	3110	broad.mit.edu	37	chr7	156803024	156803024	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccagcagggcgtcgatgcgGaaatttttggatttttccat	12	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156803024G>A	ENST00000252971.6	-	1	321	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	7					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTCGATGCGGAAATTTTTGG	0.716													False	0	True	7:156803024	0	A	156803024	G	A	156803024	2	1	88	1	0	0	0	0	0	0	0	1	9746	1165	41	2		2	MNX1	7	156803024	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	213837	156803024	2335639	8793	16505											
UBE3C	9690	broad.mit.edu	37	chr7	156974923	156974923	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttcccttacgagccctttCtgaatgcactgttgttaata	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156974923C>A	ENST00000348165.5	+	8	1252	c.892C>A	c.(892-894)Ctg>Atg	p.L298M	UBE3C_ENST00000389103.4_Missense_Mutation_p.L255M	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	298					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGAGCCCTTTCTGAATGCACT	0.438													False	0	True	7:156974923	0	A	156974923	C	A	156974923	3	1	88	1	0	0	0	0	1	0	0	0	16965	912	32	3	922	3	UBE3C	7	156974923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171899	156974923	2163740	8794	16506											
NCAPG2	54892	broad.mit.edu	37	chr7	158448052	158448052	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtgctgaagatggatgctCaggcgacagtggagaccaaa	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158448052C>T	ENST00000409339.3	-	20	2597	c.2484G>A	c.(2482-2484)ctG>ctA	p.L828L	NCAPG2_ENST00000356309.3_Silent_p.L828L|NCAPG2_ENST00000541468.1_Silent_p.L329L|NCAPG2_ENST00000409423.1_Silent_p.L828L|NCAPG2_ENST00000275830.10_Silent_p.L620L|NCAPG2_ENST00000449727.2_Silent_p.L828L	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	828					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GATGGATGCTCAGGCGACAGT	0.522													False	0	False	7:158448052	0	T	158448052	C	T	158448052	2	4	88	1	0	0	0	0	0	0	0	1	10276	813	29	2		2	NCAPG2	7	158448052	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1473129	158448052	690611	8795	16507											
NCAPG2	54892	broad.mit.edu	37	chr7	158457323	158457323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcgctcgcaccagacctcCtccggctgattcacaggcag	10	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158457323C>A	ENST00000409339.3	-	14	1712	c.1599G>T	c.(1597-1599)gaG>gaT	p.E533D	NCAPG2_ENST00000356309.3_Missense_Mutation_p.E533D|NCAPG2_ENST00000541468.1_Missense_Mutation_p.E34D|NCAPG2_ENST00000409423.1_Missense_Mutation_p.E533D|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E325D|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E533D	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	533					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACCAGACCTCCTCCGGCTGAT	0.572													False	0	False	7:158457323	0	A	158457323	C	A	158457323	3	1	88	1	0	0	0	0	1	0	0	0	10276	680	24	3	1892	3	NCAPG2	7	158457323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9271	158457323	681340	8796	16508											
NCAPG2	54892	broad.mit.edu	37	chr7	158473475	158473475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catctcttccactccctgccGaactttcttttgatggtgaa	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158473475G>A	ENST00000409339.3	-	10	1071	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	NCAPG2_ENST00000356309.3_Missense_Mutation_p.R320W|NCAPG2_ENST00000409423.1_Missense_Mutation_p.R320W|NCAPG2_ENST00000275830.10_Missense_Mutation_p.R112W|NCAPG2_ENST00000449727.2_Missense_Mutation_p.R320W	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	320					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACTCCCTGCCGAACTTTCTTT	0.323													False	0	False	7:158473475	0	A	158473475	G	A	158473475	3	1	88	1	0	0	0	0	1	0	0	0	10276	1057	37	1	2549	1	NCAPG2	7	158473475	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16152	158473475	665188	8797	16509											
ESYT2	57488	broad.mit.edu	37	chr7	158534454	158534454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatggagctgtgttgctgCcaccagggcctggagaccca	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158534454C>T	ENST00000251527.5	-	17	2074	c.2009G>A	c.(2008-2010)gGc>gAc	p.G670D	ESYT2_ENST00000435514.2_Missense_Mutation_p.G105D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	698						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGTGTTGCTGCCACCAGGGCC	0.572													False	0	False	7:158534454	0	T	158534454	C	T	158534454	3	4	88	1	0	0	0	0	1	0	0	0	5297	739	26	2	696	2	ESYT2	7	158534454	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60979	158534454	604209	8798	16510											
WDR60	55112	broad.mit.edu	37	chr7	158672615	158672615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattttgatgatgagaggCaccaaagcaacgtggataga	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158672615C>T	ENST00000407559.3	+	5	972	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	272										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGATGAGAGGCACCAAAGCAA	0.423													False	0	False	7:158672615	0	T	158672615	C	T	158672615	3	4	88	1	0	0	0	0	1	0	0	0	17395	710	25	2	832	2	WDR60	7	158672615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138161	158672615	466048	8799	16511											
WDR60	55112	broad.mit.edu	37	chr7	158677270	158677270	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatagaatggtgaacacagaAatcgaggtgcaagctcaaaa	11	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158677270A>C	ENST00000407559.3	+	6	1053	c.895A>C	c.(895-897)Aat>Cat	p.N299H		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	299										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGAACACAGAAATCGAGGTGC	0.423													False	0	True	7:158677270	0	C	158677270	A	C	158677270	3	2	88	1	0	0	0	0	1	0	0	0	17395	14	1	4	917	4	WDR60	7	158677270	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4655	158677270	461393	8800	16512											
VIPR2	7434	broad.mit.edu	37	chr7	158835849	158835849	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggttcaggtggatgtaattCctggtgcagtgcagcttcct	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158835849C>T	ENST00000262178.2	-	6	659	c.474G>A	c.(472-474)agG>agA	p.R158R	VIPR2_ENST00000377633.3_Silent_p.R142R|VIPR2_ENST00000402066.1_Silent_p.R299R	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	158					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GGATGTAATTCCTGGTGCAGT	0.557													False	0	False	7:158835849	0	T	158835849	C	T	158835849	2	4	88	1	0	0	0	0	0	0	0	1	17254	854	30	2		2	VIPR2	7	158835849	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158579	158835849	302814	8801	16513											
VIPR2	7434	broad.mit.edu	37	chr7	158851209	158851209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcttcctgttgcaagagAcatcagagagacactgtagc	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158851209A>G	ENST00000262178.2	-	5	603	c.418T>C	c.(418-420)Tct>Cct	p.S140P	VIPR2_ENST00000377633.3_Missense_Mutation_p.S124P|VIPR2_ENST00000402066.1_Missense_Mutation_p.S281P	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	140					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GTTGCAAGAGACATCAGAGAG	0.408													False	0	False	7:158851209	0	G	158851209	A	G	158851209	3	3	88	1	0	0	0	0	1	0	0	0	17254	275	10	4	934	4	VIPR2	7	158851209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15360	158851209	287454	8802	16514											
ZNF596	169270	broad.mit.edu	37	chr8	192901	192901	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttaggattccatgaccttCgaggatatcattgtagactt	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:192901C>T	ENST00000398612.1	+	3	410	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ZNF596_ENST00000308811.4_Silent_p.F9F|ZNF596_ENST00000320552.2_Silent_p.F9F	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CCATGACCTTCGAGGATATCA	0.438													False	0	False	8:192901	0	T	192901	C	T	192901	2	4	88	1	0	0	0	0	0	0	0	1	18109	883	31	1		1	ZNF596	8	192901	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08		192901	146171121	8803	16515											
ZNF596	169270	broad.mit.edu	37	chr8	195764	195764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcacttaggagataaacCatatggatgtctcctatgtg	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:195764C>T	ENST00000398612.1	+	6	1300	c.917C>T	c.(916-918)cCa>cTa	p.P306L	ZNF596_ENST00000308811.4_Missense_Mutation_p.P306L|ZNF596_ENST00000320552.2_Missense_Mutation_p.P236L	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		GGAGATAAACCATATGGATGT	0.393													False	0	False	8:195764	0	T	195764	C	T	195764	3	4	88	1	0	0	0	0	1	0	0	0	18109	594	21	2	935	2	ZNF596	8	195764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2863	195764	146168258	8804	16516											
FBXO25	26260	broad.mit.edu	37	chr8	418787	418787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctccgcagcacttcatcGacctcttcaagttttaaggg	8	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:418787G>A	ENST00000352684.2	+	9	1276	c.859G>A	c.(859-861)Gac>Aac	p.D287N	FBXO25_ENST00000350302.3_Missense_Mutation_p.D354N|FBXO25_ENST00000276326.5_Missense_Mutation_p.D363N|FBXO25_ENST00000382824.1_Missense_Mutation_p.D287N	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25	363						nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		GCACTTCATCGACCTCTTCAA	0.582													False	0	False	8:418787	0	A	418787	G	A	418787	3	1	88	1	0	0	0	0	1	0	0	0	5776	1058	37	1	1125	1	FBXO25	8	418787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	223023	418787	145945235	8805	16517											
ERICH1	157697	broad.mit.edu	37	chr8	623643	623643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaggtcttcctcgctagCgtccgcaccatcttcctccc	7	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:623643C>T	ENST00000262109.7	-	4	786	c.709G>A	c.(709-711)Gct>Act	p.A237T	ERICH1_ENST00000522706.1_Missense_Mutation_p.A143T	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	237	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCCTCGCTAGCGTCCGCACCA	0.617													False	0	False	8:623643	0	T	623643	C	T	623643	3	4	88	1	0	0	0	0	1	0	0	0	5262	768	27	1	634	1	ERICH1	8	623643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204856	623643	145740379	8806	16518											
ERICH1	157697	broad.mit.edu	37	chr8	623821	623821	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctttgctgccaagccGgctgctttcttccttttaat	8	13	1	0	rs61743225	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:623821G>T	ENST00000262109.7	-	4	608	c.531C>A	c.(529-531)gcC>gcA	p.A177A	ERICH1_ENST00000522706.1_Silent_p.A83A	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	177										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTGCCAAGCCGGCTGCTTTCT	0.483													False	0	False	8:623821	0	T	623821	G	T	623821	2	4	88	1	0	0	0	0	0	0	0	1	5262	1103	39	3		3	ERICH1	8	623821	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178	623821	145740201	8807	16519											
DLGAP2	9228	broad.mit.edu	37	chr8	1580998	1580998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgatgattgcaggtgagCgaggcggagatcaatgggca	17	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1580998C>T	ENST00000421627.2	+	5	1490	c.1356C>T	c.(1354-1356)agC>agT	p.S452S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	531					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGCAGGTGAGCGAGGCGGAGA	0.587													False	0	False	8:1580998	0	T	1580998	C	T	1580998	2	4	88	1	0	0	0	0	0	0	0	1	4590	767	27	1		1	DLGAP2	8	1580998	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	957177	1580998	144783024	8808	16520											
DLGAP2	9228	broad.mit.edu	37	chr8	1624783	1624783	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagtggaagatgagaagCggtaactcagcccctcctga	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1624783C>T	ENST00000421627.2	+	8	2181	c.2047C>T	c.(2047-2049)Cga>Tga	p.R683*		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	762					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGATGAGAAGCGGTAACTCAG	0.582													False	0	False	8:1624783	0	T	1624783	C	T	1624783	5	4	88	1	0	0	0	0	0	0	1	0	4590	782	27	1	2073	1	DLGAP2	8	1624783	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43785	1624783	144739239	8809	16521											
DLGAP2	9228	broad.mit.edu	37	chr8	1626412	1626412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaacgttctaacagcgtcaCggccgccgtccaagctgacc	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1626412C>T	ENST00000421627.2	+	9	2215	c.2081C>T	c.(2080-2082)aCg>aTg	p.T694M		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	773					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AACAGCGTCACGGCCGCCGTC	0.562													False	0	False	8:1626412	0	T	1626412	C	T	1626412	3	4	88	1	0	0	0	0	1	0	0	0	4590	536	19	1	2111	1	DLGAP2	8	1626412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1629	1626412	144737610	8810	16522											
CLN8	2055	broad.mit.edu	37	chr8	1719499	1719499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaccctgtgctgcatgcCgacaaggcgcgtggccagca	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1719499C>T	ENST00000331222.4	+	2	526	c.279C>T	c.(277-279)gcC>gcT	p.A93A		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	93	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TGCTGCATGCCGACAAGGCGC	0.582													False	0	False	8:1719499	0	T	1719499	C	T	1719499	2	4	88	1	0	0	0	0	0	0	0	1	3569	639	23	1		1	CLN8	8	1719499	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93087	1719499	144644523	8811	16523											
ARHGEF10	9639	broad.mit.edu	37	chr8	1874553	1874553	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccattttagattgaatgtgCtgcttataaccctgaacctt	6	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1874553C>A	ENST00000518288.1	+	24	2856	c.2693C>A	c.(2692-2694)gCt>gAt	p.A898D	ARHGEF10_ENST00000262112.6_Intron|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A836D|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A899D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A874D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	899					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATTGAATGTGCTGCTTATAAC	0.378													False	0	False	8:1874553	0	A	1874553	C	A	1874553	3	1	88	1	0	0	0	0	1	0	0	0	896	797	28	3	2707	3	ARHGEF10	8	1874553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155054	1874553	144489469	8812	16524											
MYOM2	9172	broad.mit.edu	37	chr8	2092671	2092671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaggacatccagctcagCgagcacttctcggtgaaggt	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2092671C>T	ENST00000262113.4	+	37	4305	c.4164C>T	c.(4162-4164)agC>agT	p.S1388S	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Silent_p.S813S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1388	Ig-like C2-type 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCCAGCTCAGCGAGCACTTCT	0.537													False	0	False	8:2092671	0	T	2092671	C	T	2092671	2	4	88	1	0	0	0	0	0	0	0	1	10159	767	27	1		1	MYOM2	8	2092671	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218118	2092671	144271351	8813	16525											
CSMD1	64478	broad.mit.edu	37	chr8	2818703	2818703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtattccaaagtgtggcGtaccagggtctgggcaggtg	15	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2818703G>A	ENST00000602557.1	-	63	10220	c.9665C>T	c.(9664-9666)aCg>aTg	p.T3222M	CSMD1_ENST00000400186.3_Missense_Mutation_p.T3045M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3221M|CSMD1_ENST00000520002.1_Missense_Mutation_p.T3222M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T3045M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T3044M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3222	Sushi 27.					integral to membrane		p.T2950K(1)|p.T3221K(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGTGTGGCGTACCAGGGTC	0.348													False	0	False	8:2818703	0	A	2818703	G	A	2818703	3	1	88	1	0	0	0	0	1	0	0	0	3969	1145	40	1	1068	1	CSMD1	8	2818703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	726032	2818703	143545319	8814	16526											
CSMD1	64478	broad.mit.edu	37	chr8	2832035	2832035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacactctcgtgtcgttgCctatgaggctctcgctccct	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2832035C>T	ENST00000602557.1	-	57	9236	c.8681G>A	c.(8680-8682)gGc>gAc	p.G2894D	CSMD1_ENST00000400186.3_Missense_Mutation_p.G2836D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2893D|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2894D|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2836D|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2835D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2894	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTGTCGTTGCCTATGAGGCT	0.597													False	0	False	8:2832035	0	T	2832035	C	T	2832035	3	4	88	1	0	0	0	0	1	0	0	0	3969	739	26	2	2076	2	CSMD1	8	2832035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13332	2832035	143531987	8815	16527											
CSMD1	64478	broad.mit.edu	37	chr8	2886927	2886927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccttctaagtagtaaccaGgactgcagctcagcaatact	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2886927G>T	ENST00000602557.1	-	52	8327	c.7772C>A	c.(7771-7773)cCt>cAt	p.P2591H	CSMD1_ENST00000400186.3_Missense_Mutation_p.P2591H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2590H|CSMD1_ENST00000520002.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2591H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2590H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2591	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAGTAACCAGGACTGCAGCT	0.537													False	0	False	8:2886927	0	T	2886927	G	T	2886927	3	4	88	1	0	0	0	0	1	0	0	0	3969	1000	35	3	3005	3	CSMD1	8	2886927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54892	2886927	143477095	8816	16528											
CSMD1	64478	broad.mit.edu	37	chr8	3087562	3087562	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taagttctgttgtctgatacCtatgcatgtaggagggtctg	12	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3087562C>A	ENST00000602557.1	-	28	4903	c.4348G>T	c.(4348-4350)Gct>Tct	p.A1450S	CSMD1_ENST00000400186.3_Splice_Site_p.A1450S|CSMD1_ENST00000539096.1_Splice_Site_p.A1449S|CSMD1_ENST00000537824.1_Splice_Site_p.A1449S|CSMD1_ENST00000520002.1_Splice_Site_p.A1450S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Splice_Site_p.A1450S|CSMD1_ENST00000542608.1_Splice_Site_p.A1449S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1450	Sushi 8.					integral to membrane		p.A1449S(1)|p.A1178S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTCTGATACCTATGCATGTA	0.418													False	0	False	8:3087562	0	A	3087562	C	A	3087562	5	1	88	1	0	0	0	0	0	0	1	0	3969	695	24	3	6525	3	CSMD1	8	3087562	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200635	3087562	143276460	8817	16529											
CSMD1	64478	broad.mit.edu	37	chr8	3141743	3141743	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtgagtgagttgaaggtgCtgtggatgtcctccggaagg	19	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3141743C>A	ENST00000602557.1	-	27	4634	c.4079G>T	c.(4078-4080)aGc>aTc	p.S1360I	CSMD1_ENST00000400186.3_Missense_Mutation_p.S1360I|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1359I|CSMD1_ENST00000520002.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1360I|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1359I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1360	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTGAAGGTGCTGTGGATGTC	0.577											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	8:3141743	0	A	3141743	C	A	3141743	3	1	88	1	0	0	0	0	1	0	0	0	3969	797	28	3	6798	3	CSMD1	8	3141743	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54181	3141743	143222279	8818	16530											
CSMD1	64478	broad.mit.edu	37	chr8	3216710	3216710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcactccacacacggcGgcccccacccaggcaggtaa	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3216710G>A	ENST00000602557.1	-	22	3826	c.3271C>T	c.(3271-3273)Cgc>Tgc	p.R1091C	CSMD1_ENST00000400186.3_Missense_Mutation_p.R1091C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1090C|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1091C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1090C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1091	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACACACGGCGGCCCCCACCC	0.552													False	0	False	8:3216710	0	A	3216710	G	A	3216710	3	1	88	1	0	0	0	0	1	0	0	0	3969	1116	39	1	7626	1	CSMD1	8	3216710	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74967	3216710	143147312	8819	16531											
CSMD1	64478	broad.mit.edu	37	chr8	3253870	3253870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctggcccatctctgacCtccaaggtgtcataattgac	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3253870C>T	ENST00000602557.1	-	18	2997	c.2442G>A	c.(2440-2442)gaG>gaA	p.E814E	CSMD1_ENST00000400186.3_Silent_p.E814E|CSMD1_ENST00000539096.1_Silent_p.E813E|CSMD1_ENST00000537824.1_Silent_p.E813E|CSMD1_ENST00000520002.1_Silent_p.E814E|CSMD1_ENST00000602723.1_Silent_p.E814E|CSMD1_ENST00000542608.1_Silent_p.E813E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	814	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATCTCTGACCTCCAAGGTGT	0.527													False	0	False	8:3253870	0	T	3253870	C	T	3253870	2	4	88	1	0	0	0	0	0	0	0	1	3969	680	24	2		2	CSMD1	8	3253870	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37160	3253870	143110152	8820	16532											
MCPH1	79648	broad.mit.edu	37	chr8	6302292	6302292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgatacattcaagacccaGgagttcctcagtaaagagaa	8	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6302292G>T	ENST00000344683.5	+	8	1125	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	MCPH1_ENST00000522905.1_Missense_Mutation_p.R302M|MCPH1_ENST00000519480.1_Missense_Mutation_p.R350M	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	350						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TCAAGACCCAGGAGTTCCTCA	0.453													False	0	False	8:6302292	0	T	6302292	G	T	6302292	3	4	88	1	0	0	0	0	1	0	0	0	9465	1000	35	3	1079	3	MCPH1	8	6302292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3048422	6302292	140061730	8821	16533											
XKR5	389610	broad.mit.edu	37	chr8	6673409	6673409	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaagtcggtggccaacAgcaacaggatgatgttctcc	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6673409A>C	ENST00000518724.1	-	0	989							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GGTGGCCAACAGCAACAGGAT	0.587											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	8:6673409	0	C	6673409	A	C	6673409	1	2	88	0	1	0	0	0	0	0	0	0	17518	188	7	4		4	XKR5	8	6673409	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	371117	6673409	139690613	8822	16534											
XKR5	389610	broad.mit.edu	37	chr8	6681195	6681195	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcatgaagcccatgaagCgagtgtaggacaccagtgcc	12	11	1	2	rs67407819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6681195C>T	ENST00000518724.1	-	0	635							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GCCCATGAAGCGAGTGTAGGA	0.592													False	0	False	8:6681195	0	T	6681195	C	T	6681195	1	4	88	0	1	0	0	0	0	0	0	0	17518	768	27	1		1	XKR5	8	6681195	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7786	6681195	139682827	8823	16535											
XKR5	389610	broad.mit.edu	37	chr8	6690240	6690240	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggcagctgttcttaccGcttccaaacaccaagctgta	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6690240G>A	ENST00000518724.1	-	0	391							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGTTCTTACCGCTTCCAAACA	0.527													False	0	False	8:6690240	0	A	6690240	G	A	6690240	1	1	88	0	1	0	0	0	0	0	0	0	17518	1101	38	1		1	XKR5	8	6690240	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9045	6690240	139673782	8824	16536											
DEFA6	1671	broad.mit.edu	37	chr8	6783472	6783472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcataagcttttgcctgcAgtggatcatcctcagcttgg	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6783472A>G	ENST00000297436.2	-	1	126	c.86T>C	c.(85-87)cTg>cCg	p.L29P		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	29					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TTTTGCCTGCAGTGGATCATC	0.572													False	0	False	8:6783472	0	G	6783472	A	G	6783472	3	3	88	1	0	0	0	0	1	0	0	0	4418	188	7	4	224	4	DEFA6	8	6783472	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	93232	6783472	139580550	8825	16537											
DEFA6	1671	broad.mit.edu	37	chr8	6783502	6783502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcagcttggagtggctcaGccttggcctggagggccacg	15	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6783502G>T	ENST00000297436.2	-	1	96	c.56C>A	c.(55-57)gCt>gAt	p.A19D		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	19					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAGTGGCTCAGCCTTGGCCTG	0.597													False	0	False	8:6783502	0	T	6783502	G	T	6783502	3	4	88	1	0	0	0	0	1	0	0	0	4418	971	34	3	254	3	DEFA6	8	6783502	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	6783502	139580520	8826	16538											
DEFA4	1669	broad.mit.edu	37	chr8	6794269	6794269	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgaaacctgaagagcagaGcttttatcccatgcaaagga	9	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6794269G>T	ENST00000297435.2	-	2	277	c.153C>A	c.(151-153)agC>agA	p.S51R		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	51					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAAGAGCAGAGCTTTTATCCC	0.537													False	0	True	8:6794269	0	T	6794269	G	T	6794269	3	4	88	1	0	0	0	0	1	0	0	0	4416	962	34	3	148	3	DEFA4	8	6794269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10767	6794269	139569753	8827	16539											
SPAG11B	10407	broad.mit.edu	37	chr8	7320352	7320352	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgagagcctcagtggctgAgtggttcacatgtctggctt	13	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:7320352A>G	ENST00000317900.5	-	2	261	c.91T>C	c.(91-93)Tca>Cca	p.S31P	SPAG11B_ENST00000361111.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000398462.2_Missense_Mutation_p.S31P|SPAG11B_ENST00000359758.5_Missense_Mutation_p.S31P|SPAG11B_ENST00000297498.2_Missense_Mutation_p.S31P	NM_058203.2	NP_478110.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	31					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TCAGTGGCTGAGTGGTTCACA	0.587													False	0	False	8:7320352	0	G	7320352	A	G	7320352	3	3	88	1	0	0	0	0	1	0	0	0	15059	304	11	4	628	4	SPAG11B	8	7320352	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	526083	7320352	139043670	8828	16540											
SGK223	0	broad.mit.edu	37	chr8	8175725	8175725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagagggccccgggctccGcagacgccaggtactggcag	16	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8175725G>A	ENST00000520004.1	-	6	4424	c.4160C>T	c.(4159-4161)gCg>gTg	p.A1387V	SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V			Q86YV5	SG223_HUMAN		1387							ATP binding|non-membrane spanning protein tyrosine kinase activity										CCCGGGCTCCGCAGACGCCAG	0.647													False	0	False	8:8175725	0	A	8175725	G	A	8175725	3	1	88	1	0	0	0	0	1	0	0	0	14291	1087	38	1	52	1	SGK223	8	8175725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	855373	8175725	138188297	8829	16541											
SGK223	0	broad.mit.edu	37	chr8	8175943	8175943	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcacgcgcttggcctcgccGatgcggatacgcttgatggg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8175943G>T	ENST00000520004.1	-	6	4206	c.3942C>A	c.(3940-3942)atC>atA	p.I1314I	SGK223_ENST00000330777.4_Silent_p.I1314I			Q86YV5	SG223_HUMAN		1314	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										TGGCCTCGCCGATGCGGATAC	0.716													False	0	False	8:8175943	0	T	8175943	G	T	8175943	2	4	88	1	0	0	0	0	0	0	0	1	14291	1048	37	3		3	SGK223	8	8175943	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	218	8175943	138188079	8830	16542											
SGK223	0	broad.mit.edu	37	chr8	8197103	8197103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctttctgcagagccctgGctcactttttccaaatcaga	8	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8197103G>A	ENST00000520004.1	-	4	2469	c.2205C>T	c.(2203-2205)agC>agT	p.S735S	SGK223_ENST00000330777.4_Silent_p.S735S			Q86YV5	SG223_HUMAN		735							ATP binding|non-membrane spanning protein tyrosine kinase activity										CAGAGCCCTGGCTCACTTTTT	0.502													False	0	False	8:8197103	0	A	8197103	G	A	8197103	2	1	88	1	0	0	0	0	0	0	0	1	14291	1194	42	2		2	SGK223	8	8197103	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21160	8197103	138166919	8831	16543											
MFHAS1	9258	broad.mit.edu	37	chr8	8654933	8654933	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaaggcaacatttactcGctcgctgccgttcttggggc	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8654933G>A	ENST00000276282.6	-	2	3653	c.3067C>T	c.(3067-3069)Cga>Tga	p.R1023*	MFHAS1_ENST00000520091.1_5'UTR	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	1023										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACATTTACTCGCTCGCTGCCG	0.572													False	0	True	8:8654933	0	A	8654933	G	A	8654933	4	1	88	1	0	0	0	0	0	1	0	0	9588	1095	38	1	99	1	MFHAS1	8	8654933	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457830	8654933	137709089	8832	16544											
ERI1	90459	broad.mit.edu	37	chr8	8875870	8875870	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtaattgactggatgaaaTtgaaggaattaggaacaaag	11	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8875870T>C	ENST00000523898.1	+	6	1325	c.646T>C	c.(646-648)Ttg>Ctg	p.L216L	ERI1_ENST00000250263.7_Silent_p.L216L|ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000519292.1_Silent_p.L216L			Q8IV48	ERI1_HUMAN	exoribonuclease 1	216	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	CTGGATGAAATTGAAGGAATT	0.294													False	0	True	8:8875870	0	C	8875870	T	C	8875870	2	2	88	1	0	0	0	0	0	0	0	1	5259	1490	52	4		4	ERI1	8	8875870	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220937	8875870	137488152	8833	16545											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998463	8998463	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtagattttaactcagcccgGatgatcctatagttcttgcc	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8998463G>T	ENST00000310455.3	-	2	849	c.699C>A	c.(697-699)atC>atA	p.I233I	PPP1R3B_ENST00000519699.1_Silent_p.I233I	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	233	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ACTCAGCCCGGATGATCCTAT	0.483													False	0	False	8:8998463	0	T	8998463	G	T	8998463	2	4	88	1	0	0	0	0	0	0	0	1	12446	1164	41	3		3	PPP1R3B	8	8998463	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122593	8998463	137365559	8834	16546											
TNKS	8658	broad.mit.edu	37	chr8	9538260	9538260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaatgaagaaaaactaatgGctttactgactcctctaaat	6	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9538260G>A	ENST00000310430.6	+	5	1083	c.1057G>A	c.(1057-1059)Gct>Act	p.A353T	TNKS_ENST00000518281.1_Missense_Mutation_p.A116T|TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Missense_Mutation_p.A353T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	353					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAAACTAATGGCTTTACTGAC	0.299													False	0	False	8:9538260	0	A	9538260	G	A	9538260	3	1	88	1	0	0	0	0	1	0	0	0	16401	1203	42	2	1075	2	TNKS	8	9538260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	539797	9538260	136825762	8835	16547											
TNKS	8658	broad.mit.edu	37	chr8	9605704	9605704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaccaggaaggccagacGcctctggatctggcaacagt	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9605704G>A	ENST00000310430.6	+	18	2840	c.2814G>A	c.(2812-2814)acG>acA	p.T938T	TNKS_ENST00000518281.1_Silent_p.T701T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	938					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAGGCCAGACGCCTCTGGATC	0.522													False	0	False	8:9605704	0	A	9605704	G	A	9605704	2	1	88	1	0	0	0	0	0	0	0	1	16401	1074	38	1		1	TNKS	8	9605704	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67444	9605704	136758318	8836	16548											
TNKS	8658	broad.mit.edu	37	chr8	9623249	9623249	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggagcggttctgccaccgAcagaaggaagtgtctgagga	16	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9623249A>G	ENST00000310430.6	+	24	3521	c.3495A>G	c.(3493-3495)cgA>cgG	p.R1165R	TNKS_ENST00000518281.1_Silent_p.R928R	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1165	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCTGCCACCGACAGAAGGAAG	0.463													False	0	False	8:9623249	0	G	9623249	A	G	9623249	2	3	88	1	0	0	0	0	0	0	0	1	16401	262	10	4		4	TNKS	8	9623249	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17545	9623249	136740773	8837	16549											
TNKS	8658	broad.mit.edu	37	chr8	9623794	9623794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcataaagggtttgatgagcGacatgcatacataggaggaa	12	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9623794G>A	ENST00000310430.6	+	25	3625	c.3599G>A	c.(3598-3600)cGa>cAa	p.R1200Q	TNKS_ENST00000518281.1_Missense_Mutation_p.R963Q	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1200	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.R1200Q(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTTGATGAGCGACATGCATAC	0.383													False	0	False	8:9623794	0	A	9623794	G	A	9623794	3	1	88	1	0	0	0	0	1	0	0	0	16401	1058	37	1	3697	1	TNKS	8	9623794	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	545	9623794	136740228	8838	16550											
TNKS	8658	broad.mit.edu	37	chr8	9627692	9627692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaaatggcccacgcgcctCcagggcaccactcagtcatt	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9627692C>T	ENST00000310430.6	+	26	3843	c.3817C>T	c.(3817-3819)Cca>Tca	p.P1273S	TNKS_ENST00000518281.1_Missense_Mutation_p.P1036S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1273	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCACGCGCCTCCAGGGCACCA	0.453													False	0	False	8:9627692	0	T	9627692	C	T	9627692	3	4	88	1	0	0	0	0	1	0	0	0	16401	855	30	2	3919	2	TNKS	8	9627692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3898	9627692	136736330	8839	16551											
MSRA	4482	broad.mit.edu	37	chr8	10102688	10102688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcaactcaagttggttttGcaggaggctatacttcaaat	8	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10102688G>A	ENST00000528246.1	+	4	711	c.88G>A	c.(88-90)Gca>Aca	p.A30T	MSRA_ENST00000518255.1_Missense_Mutation_p.A96T|MSRA_ENST00000317173.4_Missense_Mutation_p.A96T|MSRA_ENST00000441698.2_Intron|MSRA_ENST00000521209.2_Missense_Mutation_p.A30T|MSRA_ENST00000382490.5_Missense_Mutation_p.A53T	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	96					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	AGTTGGTTTTGCAGGAGGCTA	0.373													False	0	True	8:10102688	0	A	10102688	G	A	10102688	3	1	88	1	0	0	0	0	1	0	0	0	9954	1319	46	2	313	2	MSRA	8	10102688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	474996	10102688	136261334	8840	16552											
PRSS55	203074	broad.mit.edu	37	chr8	10383150	10383150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcacgggaactcagctcGgtccacggactcctctccca	10	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10383150G>A	ENST00000328655.3	+	1	95	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	PRSS55_ENST00000522210.1_Missense_Mutation_p.G19S|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	19					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AACTCAGCTCGGTCCACGGAC	0.677													False	0	False	8:10383150	0	A	10383150	G	A	10383150	3	1	88	1	0	0	0	0	1	0	0	0	12710	1116	39	1	57	1	PRSS55	8	10383150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	280462	10383150	135980872	8841	16553											
RP1L1	94137	broad.mit.edu	37	chr8	10464701	10464701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagttgccccaagaggatgCtctggaggaggaagggcctg	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10464701C>A	ENST00000382483.3	-	4	7130	c.6907G>T	c.(6907-6909)Gca>Tca	p.A2303S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2303					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAAGAGGATGCTCTGGAGGAG	0.607													False	0	False	8:10464701	0	A	10464701	C	A	10464701	3	1	88	1	0	0	0	0	1	0	0	0	13612	797	28	3	299	3	RP1L1	8	10464701	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81551	10464701	135899321	8842	16554											
RP1L1	94137	broad.mit.edu	37	chr8	10465626	10465626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctacatcttctgactctggCtgggcctccccttctgcctc	7	17	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10465626C>A	ENST00000382483.3	-	4	6205	c.5982G>T	c.(5980-5982)caG>caT	p.Q1994H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1994					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCTGGCTGGGCCTCCC	0.602													False	0	True	8:10465626	0	A	10465626	C	A	10465626	3	1	88	1	0	0	0	0	1	0	0	0	13612	796	28	3	1224	3	RP1L1	8	10465626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	925	10465626	135898396	8843	16555											
C8orf74	203076	broad.mit.edu	37	chr8	10557846	10557846	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acattcgccatcttggacctGaagcttcagaagaagactct	8	11	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10557846G>T	ENST00000304519.5	+	4	779	c.750G>T	c.(748-750)ctG>ctT	p.L250L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	250										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TCTTGGACCTGAAGCTTCAGA	0.607													False	0	False	8:10557846	0	T	10557846	G	T	10557846	2	4	88	1	0	0	0	0	0	0	0	1	2456	1277	45	3		3	C8orf74	8	10557846	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92220	10557846	135806176	8844	16556											
SOX7	83595	broad.mit.edu	37	chr8	10583423	10583423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaaatactggtcgaatTcattgcgatccatgtccccc	7	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10583423T>C	ENST00000304501.1	-	2	1070	c.992A>G	c.(991-993)gAa>gGa	p.E331G	SOX7_ENST00000554914.1_Missense_Mutation_p.E383G|SOX7_ENST00000553390.1_Missense_Mutation_p.E383G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	331	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CTGGTCGAATTCATTGCGATC	0.627													False	0	False	8:10583423	0	C	10583423	T	C	10583423	3	2	88	1	0	0	0	0	1	0	0	0	15036	1783	62	4	178	4	SOX7	8	10583423	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25577	10583423	135780599	8845	16557											
XKR6	286046	broad.mit.edu	37	chr8	10755726	10755726	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcaagcaagtgtcagccgtGagatcctcctgttgttccgt	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10755726G>A	ENST00000416569.2	-	3	1688	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	XKR6_ENST00000304437.2_Silent_p.L275L	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	554						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TGTCAGCCGTGAGATCCTCCT	0.612													False	0	False	8:10755726	0	A	10755726	G	A	10755726	2	1	88	1	0	0	0	0	0	0	0	1	17519	1277	45	2		2	XKR6	8	10755726	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172303	10755726	135608296	8846	16558											
XKR6	286046	broad.mit.edu	37	chr8	10756176	10756176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatgcagaagtctgttccGccatggatgatccagaaggc	12	10	1	3	rs139763869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10756176G>A	ENST00000416569.2	-	3	1238	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	XKR6_ENST00000304437.2_Silent_p.G125G	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	404						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGTCTGTTCCGCCATGGATGA	0.507													False	0	False	8:10756176	0	A	10756176	G	A	10756176	2	1	88	1	0	0	0	0	0	0	0	1	17519	1074	38	1		1	XKR6	8	10756176	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	450	10756176	135607846	8847	16559											
MTMR9	66036	broad.mit.edu	37	chr8	11157552	11157552	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcattgtctactctggactcCatcactctgatgtacccttt	6	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11157552C>A	ENST00000221086.3	+	3	785	c.312C>A	c.(310-312)tcC>tcA	p.S104S	MTMR9_ENST00000526292.1_Silent_p.S19S	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	104						cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTCTGGACTCCATCACTCTGA	0.383													False	0	False	8:11157552	0	A	11157552	C	A	11157552	2	1	88	1	0	0	0	0	0	0	0	1	10017	581	21	3		3	MTMR9	8	11157552	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	401376	11157552	135206470	8848	16560											
MTMR9	66036	broad.mit.edu	37	chr8	11163894	11163894	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattatcctcagtggaggCgaattcataagtccattgag	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11163894C>T	ENST00000221086.3	+	5	1260	c.787C>T	c.(787-789)Cga>Tga	p.R263*	MTMR9_ENST00000526292.1_Nonsense_Mutation_p.R178*	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	263	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TCAGTGGAGGCGAATTCATAA	0.433													False	0	False	8:11163894	0	T	11163894	C	T	11163894	4	4	88	1	0	0	0	0	0	1	0	0	10017	760	27	1	805	1	MTMR9	8	11163894	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6342	11163894	135200128	8849	16561											
MTMR9	66036	broad.mit.edu	37	chr8	11180276	11180276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaactggaaacagaggaCgggatgcaggagagtccctg	16	8	0	3	rs148685240		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11180276C>T	ENST00000221086.3	+	10	2102	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	MTMR9_ENST00000526292.1_Silent_p.D458D|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	543						cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AAACAGAGGACGGGATGCAGG	0.463													False	0	True	8:11180276	0	T	11180276	C	T	11180276	2	4	88	1	0	0	0	0	0	0	0	1	10017	535	19	1		1	MTMR9	8	11180276	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16382	11180276	135183746	8850	16562											
GATA4	2626	broad.mit.edu	37	chr8	11606439	11606439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcagtagatatgtttgacGacttctcagaaggcagagag	11	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11606439G>A	ENST00000335135.4	+	3	1186	c.628G>A	c.(628-630)Gac>Aac	p.D210N	GATA4_ENST00000528712.1_Missense_Mutation_p.D4N|GATA4_ENST00000532059.1_Missense_Mutation_p.D211N	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	210					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TATGTTTGACGACTTCTCAGA	0.517													False	0	False	8:11606439	0	A	11606439	G	A	11606439	3	1	88	1	0	0	0	0	1	0	0	0	6299	1058	37	1	634	1	GATA4	8	11606439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	426163	11606439	134757583	8851	16563											
NEIL2	252969	broad.mit.edu	37	chr8	11643740	11643740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtgcccgcagtgccaGccccagttgtcagaggagcc	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11643740G>A	ENST00000284503.6	+	5	1556	c.957G>A	c.(955-957)caG>caA	p.Q319Q	NEIL2_ENST00000436750.3_Silent_p.Q319Q|NEIL2_ENST00000403422.3_Silent_p.Q258Q|NEIL2_ENST00000455213.2_Silent_p.Q319Q|NEIL2_ENST00000528323.1_Silent_p.Q203Q	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	319					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CGCAGTGCCAGCCCCAGTTGT	0.602								Base excision repair (BER), DNA glycosylases					False	0	True	8:11643740	0	A	11643740	G	A	11643740	2	1	88	1	0	0	0	0	0	0	0	1	10387	962	34	2		2	NEIL2	8	11643740	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37301	11643740	134720282	8852	16564											
FDFT1	2222	broad.mit.edu	37	chr8	11660380	11660380	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttggccaccccgaagagttCtacaacctggtgcgcttccg	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11660380C>A	ENST00000220584.4	+	1	261	c.39C>A	c.(37-39)ttC>ttA	p.F13L	FDFT1_ENST00000525900.1_Missense_Mutation_p.F13L|FDFT1_ENST00000538689.1_Intron|FDFT1_ENST00000443614.2_Missense_Mutation_p.F13L|FDFT1_ENST00000446331.2_3'UTR	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	13					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCGAAGAGTTCTACAACCTGG	0.682													False	0	False	8:11660380	0	A	11660380	C	A	11660380	3	1	88	1	0	0	0	0	1	0	0	0	5842	912	32	3	41	3	FDFT1	8	11660380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16640	11660380	134703642	8853	16565											
FDFT1	2222	broad.mit.edu	37	chr8	11667339	11667339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggagaaggatcgccagGtgctggaggacttcccaacg	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11667339G>A	ENST00000220584.4	+	3	583	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	FDFT1_ENST00000530664.1_Missense_Mutation_p.V57M|FDFT1_ENST00000525900.1_Missense_Mutation_p.V114M|FDFT1_ENST00000528643.1_Missense_Mutation_p.V36M|FDFT1_ENST00000525777.1_Missense_Mutation_p.V36M|FDFT1_ENST00000528812.1_Missense_Mutation_p.V57M|FDFT1_ENST00000538689.1_Missense_Mutation_p.V10M|FDFT1_ENST00000443614.2_Missense_Mutation_p.V121M|FDFT1_ENST00000446331.2_Intron	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	121					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GGATCGCCAGGTGCTGGAGGA	0.507													False	0	False	8:11667339	0	A	11667339	G	A	11667339	3	1	88	1	0	0	0	0	1	0	0	0	5842	1261	44	2	371	2	FDFT1	8	11667339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6959	11667339	134696683	8854	16566											
FDFT1	2222	broad.mit.edu	37	chr8	11687884	11687884	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgtcatcacctacctttcGagactcagaaaccagagtgt	8	11	3	3	rs150271048	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11687884G>A	ENST00000220584.4	+	6	1056	c.834G>A	c.(832-834)tcG>tcA	p.S278S	FDFT1_ENST00000530664.1_Silent_p.S214S|FDFT1_ENST00000525900.1_Silent_p.S271S|FDFT1_ENST00000528643.1_Silent_p.S193S|FDFT1_ENST00000525777.1_Silent_p.S193S|FDFT1_ENST00000528812.1_Silent_p.S214S|FDFT1_ENST00000538689.1_Silent_p.S167S|FDFT1_ENST00000443614.2_Silent_p.S235S|FDFT1_ENST00000446331.2_3'UTR	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	278					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCTACCTTTCGAGACTCAGAA	0.502													False	0	False	8:11687884	0	A	11687884	G	A	11687884	2	1	88	1	0	0	0	0	0	0	0	1	5842	1045	37	1		1	FDFT1	8	11687884	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20545	11687884	134676138	8855	16567											
CTSB	1508	broad.mit.edu	37	chr8	11706619	11706619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacacctccacgctgacgtGcgcattggtgtggatgcaga	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11706619G>A	ENST00000353047.6	-	5	635	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	CTSB_ENST00000415599.2_Intron|CTSB_ENST00000453527.2_Missense_Mutation_p.H128Y|CTSB_ENST00000531089.1_Missense_Mutation_p.H128Y|CTSB_ENST00000530640.2_Missense_Mutation_p.H128Y|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000534510.1_Missense_Mutation_p.H128Y|CTSB_ENST00000434271.1_Missense_Mutation_p.H128Y|CTSB_ENST00000533455.1_Missense_Mutation_p.H128Y|CTSB_ENST00000345125.3_Missense_Mutation_p.H128Y	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	128					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		ACGCTGACGTGCGCATTGGTG	0.647													False	0	False	8:11706619	0	A	11706619	G	A	11706619	3	1	88	1	0	0	0	0	1	0	0	0	4055	1319	46	2	661	2	CTSB	8	11706619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18735	11706619	134657403	8856	16568											
USP17L2	377630	broad.mit.edu	37	chr8	11994753	11994753	+	Missense_Mutation	SNP	G	G	A													tggtcctcccttgcagagaaGcgagggtgccagtgttcacg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11994753G>A	ENST00000333796.3	-	1	1833	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	506					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTGCAGAGAAGCGAGGGTGCC	0.542													False	0	False	8:11994753	0	A	11994753	G	A	11994753	3	1	88	1	0	0	0	0	1	0	0	0	17132	971	34	2	79	2	USP17L2	8	11994753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288134	11994753	134369269	8857	16569	201	2									
USP17L2	377630	broad.mit.edu	37	chr8	11994754	11994754	+	Missense_Mutation	SNP	C	C	T													ggtcctcccttgcagagaagCgagggtgccagtgttcacgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11994754C>T	ENST00000333796.3	-	1	1832	c.1516G>A	c.(1516-1518)Gct>Act	p.A506T	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	506					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGCAGAGAAGCGAGGGTGCCA	0.547													False	0	False	8:11994754	0	T	11994754	C	T	11994754	3	4	88	1	0	0	0	0	1	0	0	0	17132	768	27	1	80	1	USP17L2	8	11994754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	11994754	134369268	8858	16570	201	2									
USP17L2	377630	broad.mit.edu	37	chr8	11995139	11995139	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctctcactgtgtctttcccaTtcactcttctggatgtaaaa	5	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995139T>A	ENST00000333796.3	-	1	1447	c.1131A>T	c.(1129-1131)gaA>gaT	p.E377D	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	377					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GTCTTTCCCATTCACTCTTCT	0.517													False	0	False	8:11995139	0	A	11995139	T	A	11995139	3	1	88	1	0	0	0	0	1	0	0	0	17132	1490	52	5	465	5	USP17L2	8	11995139	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	385	11995139	134368883	8859	16571											
USP17L2	377630	broad.mit.edu	37	chr8	11995503	11995503	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgccctctggagacaaAgaccgcaatgataggcattc	11	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995503A>G	ENST00000333796.3	-	1	1083	c.767T>C	c.(766-768)cTt>cCt	p.L256P	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	256					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CTGGAGACAAAGACCGCAATG	0.512													False	0	True	8:11995503	0	G	11995503	A	G	11995503	3	3	88	1	0	0	0	0	1	0	0	0	17132	72	3	4	829	4	USP17L2	8	11995503	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	364	11995503	134368519	8860	16572											
USP17L2	377630	broad.mit.edu	37	chr8	11995994	11995994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggcactgcagggaagcGttctcgtagcaggtatttcc	13	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995994G>A	ENST00000333796.3	-	1	592	c.276C>T	c.(274-276)aaC>aaT	p.N92N	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	92					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCAGGGAAGCGTTCTCGTAGC	0.572													False	0	False	8:11995994	0	A	11995994	G	A	11995994	2	1	88	1	0	0	0	0	0	0	0	1	17132	1136	40	1		1	USP17L2	8	11995994	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491	11995994	134368028	8861	16573											
FAM86B2	653333	broad.mit.edu	37	chr8	12287880	12287880	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaaatagctccggtggccCtgggtggactccttggccat	13	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12287880C>A	ENST00000262365.4	-	4	320	c.321G>T	c.(319-321)caG>caT	p.Q107H	FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000393715.3_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	107										endometrium(1)|kidney(2)	3						TCCGGTGGCCCTGGGTGGACT	0.592													False	0	True	8:12287880	0	A	12287880	C	A	12287880	3	1	88	1	0	0	0	0	1	0	0	0	5685	680	24	3	691	3	FAM86B2	8	12287880	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291886	12287880	134076142	8862	16574											
LONRF1	91694	broad.mit.edu	37	chr8	12598479	12598479	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctaaaaaaccagcatcgcaGagtacttttcctttcctgaa	5	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12598479G>A	ENST00000398246.3	-	3	936	c.867C>T	c.(865-867)ctC>ctT	p.L289L	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	289					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CAGCATCGCAGAGTACTTTTC	0.338													False	0	False	8:12598479	0	A	12598479	G	A	12598479	2	1	88	1	0	0	0	0	0	0	0	1	8956	929	33	2		2	LONRF1	8	12598479	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	310599	12598479	133765543	8863	16575											
DLC1	10395	broad.mit.edu	37	chr8	12946138	12946138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgttctttaagtaggcGctttaagatttcctctggca	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12946138G>A	ENST00000276297.4	-	16	4559	c.4150C>T	c.(4150-4152)Cgc>Tgc	p.R1384C	DLC1_ENST00000358919.2_Missense_Mutation_p.R947C|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.R873C|DLC1_ENST00000512044.2_Missense_Mutation_p.R981C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1384	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTAAGTAGGCGCTTTAAGATT	0.453													False	0	False	8:12946138	0	A	12946138	G	A	12946138	3	1	88	1	0	0	0	0	1	0	0	0	4580	1087	38	1	448	1	DLC1	8	12946138	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	347659	12946138	133417884	8864	16576											
DLC1	10395	broad.mit.edu	37	chr8	12957094	12957094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccactgattgactatccGctgcatccccttcacgtggt	8	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957094G>A	ENST00000276297.4	-	9	3161	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W	DLC1_ENST00000358919.2_Missense_Mutation_p.R481W|DLC1_ENST00000520226.1_Missense_Mutation_p.R407W|DLC1_ENST00000512044.2_Missense_Mutation_p.R515W	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	918					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGACTATCCGCTGCATCCCC	0.562													False	0	False	8:12957094	0	A	12957094	G	A	12957094	3	1	88	1	0	0	0	0	1	0	0	0	4580	1086	38	1	1874	1	DLC1	8	12957094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10956	12957094	133406928	8865	16577											
DLC1	10395	broad.mit.edu	37	chr8	12957822	12957822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgggagctcttgagcTtcaggctctccatccgtttc	11	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957822T>C	ENST00000276297.4	-	9	2433	c.2024A>G	c.(2023-2025)aAg>aGg	p.K675R	DLC1_ENST00000358919.2_Missense_Mutation_p.K238R|DLC1_ENST00000520226.1_Missense_Mutation_p.K164R|DLC1_ENST00000512044.2_Missense_Mutation_p.K272R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	675					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTCTTGAGCTTCAGGCTCTC	0.547													False	0	False	8:12957822	0	C	12957822	T	C	12957822	3	2	88	1	0	0	0	0	1	0	0	0	4580	1609	56	4	2602	4	DLC1	8	12957822	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	728	12957822	133406200	8866	16578											
DLC1	10395	broad.mit.edu	37	chr8	12957919	12957919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagctggacagttccttggGagagggcaggctgccgaaag	17	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957919G>A	ENST00000276297.4	-	9	2336	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S	DLC1_ENST00000358919.2_Missense_Mutation_p.P206S|DLC1_ENST00000520226.1_Missense_Mutation_p.P132S|DLC1_ENST00000512044.2_Missense_Mutation_p.P240S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	643					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGTTCCTTGGGAGAGGGCAGG	0.572													False	0	True	8:12957919	0	A	12957919	G	A	12957919	3	1	88	1	0	0	0	0	1	0	0	0	4580	1174	41	2	2699	2	DLC1	8	12957919	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97	12957919	133406103	8867	16579											
DLC1	10395	broad.mit.edu	37	chr8	12968258	12968258	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgtgtccatttacctgcataGagcctcaatggcatctctgt	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12968258G>A	ENST00000276297.4	-	7	1904	c.1495C>T	c.(1495-1497)Cta>Tta	p.L499L	DLC1_ENST00000358919.2_Silent_p.L62L|DLC1_ENST00000520226.1_5'UTR|DLC1_ENST00000512044.2_Silent_p.L96L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	499	SAM.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TACCTGCATAGAGCCTCAATG	0.358													False	0	False	8:12968258	0	A	12968258	G	A	12968258	2	1	88	1	0	0	0	0	0	0	0	1	4580	933	33	2		2	DLC1	8	12968258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10339	12968258	133395764	8868	16580											
MSR1	0	broad.mit.edu	37	chr8	16026093	16026093	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatctattgcattcccatgTccctggactgaggaaaacaa	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:16026093T>C	ENST00000350896.3	-	4	701	c.504A>G	c.(502-504)ggA>ggG	p.G168G	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000262101.5_Silent_p.G168G|MSR1_ENST00000381998.4_Silent_p.G168G|MSR1_ENST00000355282.2_Silent_p.G168G|MSR1_ENST00000445506.2_Silent_p.G186G	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	168					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.G168G(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CATTCCCATGTCCCTGGACTG	0.378													False	0	True	8:16026093	0	C	16026093	T	C	16026093	2	2	88	1	0	0	0	0	0	0	0	1	9953	1654	58	4		4	MSR1	8	16026093	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3057835	16026093	130337929	8869	16581											
MSR1	0	broad.mit.edu	37	chr8	16026334	16026334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttatatcatttgcattaGttgaactaactgagcaattc	7	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:16026334G>A	ENST00000350896.3	-	4	460	c.263C>T	c.(262-264)aCt>aTt	p.T88I	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000262101.5_Missense_Mutation_p.T88I|MSR1_ENST00000381998.4_Missense_Mutation_p.T88I|MSR1_ENST00000355282.2_Missense_Mutation_p.T88I|MSR1_ENST00000445506.2_Missense_Mutation_p.T106I	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	88	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTTGCATTAGTTGAACTAAC	0.378													False	0	False	8:16026334	0	A	16026334	G	A	16026334	3	1	88	1	0	0	0	0	1	0	0	0	9953	1029	36	2	1168	2	MSR1	8	16026334	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241	16026334	130337688	8870	16582											
ZDHHC2	51201	broad.mit.edu	37	chr8	17055101	17055101	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccctagccatccgataCtgtgacagatgccaacttat	7	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17055101C>A	ENST00000262096.8	+	5	1079	c.384C>A	c.(382-384)taC>taA	p.Y128*		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	128						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CCATCCGATACTGTGACAGAT	0.368													False	0	False	8:17055101	0	A	17055101	C	A	17055101	4	1	88	1	0	0	0	0	0	1	0	0	17693	576	20	3	402	3	ZDHHC2	8	17055101	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1028767	17055101	129308921	8871	16583											
ZDHHC2	51201	broad.mit.edu	37	chr8	17055914	17055914	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttgaagatggatcatcaTtgtccatggtgagttggctg	12	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17055914T>C	ENST00000262096.8	+	6	1163	c.468T>C	c.(466-468)caT>caC	p.H156H		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	156						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TGGATCATCATTGTCCATGGT	0.259													False	0	False	8:17055914	0	C	17055914	T	C	17055914	2	2	88	1	0	0	0	0	0	0	0	1	17693	1490	52	4		4	ZDHHC2	8	17055914	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	813	17055914	129308108	8872	16584											
VPS37A	137492	broad.mit.edu	37	chr8	17125834	17125834	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccaccaatacgacatcacTtaatggataaacaaggagtg	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17125834T>G	ENST00000324849.4	+	3	942	c.268T>G	c.(268-270)Tta>Gta	p.L90V	VPS37A_ENST00000521829.1_Missense_Mutation_p.L65V|VPS37A_ENST00000324815.3_Missense_Mutation_p.L90V	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	90					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		ACGACATCACTTAATGGATAA	0.343													False	0	False	8:17125834	0	G	17125834	T	G	17125834	3	3	88	1	0	0	0	0	1	0	0	0	17289	1606	56	4	278	4	VPS37A	8	17125834	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69920	17125834	129238188	8873	16585											
VPS37A	137492	broad.mit.edu	37	chr8	17132303	17132303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggttttccatttcttcctCcatatcctccacaagaagca	5	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17132303C>T	ENST00000324849.4	+	5	1152	c.478C>T	c.(478-480)Cca>Tca	p.P160S	VPS37A_ENST00000521829.1_Missense_Mutation_p.P135S|VPS37A_ENST00000324815.3_Missense_Mutation_p.S169F	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	160					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		ATTTCTTCCTCCATATCCTCC	0.403													False	0	False	8:17132303	0	T	17132303	C	T	17132303	3	4	88	1	0	0	0	0	1	0	0	0	17289	855	30	2	496	2	VPS37A	8	17132303	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6469	17132303	129231719	8874	16586											
VPS37A	137492	broad.mit.edu	37	chr8	17132334	17132334	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagaagcaaacaggagtaTcacttctttatctgttgctg	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17132334T>G	ENST00000324815.3	+	6	890	c.537T>G	c.(535-537)taT>taG	p.Y179*	VPS37A_ENST00000324849.4_Missense_Mutation_p.I170S|VPS37A_ENST00000521829.1_Missense_Mutation_p.I145S			Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	52					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		AACAGGAGTATCACTTCTTTA	0.438													False	0	False	8:17132334	0	G	17132334	T	G	17132334	4	3	88	1	0	0	0	0	0	1	0	0	17289	1435	50	4	527	4	VPS37A	8	17132334	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31	17132334	129231688	8875	16587											
MTMR7	9108	broad.mit.edu	37	chr8	17228582	17228582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatcagggagatgtacacgtCgtggcaatctctttcctgag	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17228582C>T	ENST00000180173.5	-	3	308	c.274G>A	c.(274-276)Gac>Aac	p.D92N	MTMR7_ENST00000521857.1_Missense_Mutation_p.D92N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	92							protein tyrosine phosphatase activity	p.D92N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		ATGTACACGTCGTGGCAATCT	0.463													False	0	False	8:17228582	0	T	17228582	C	T	17228582	3	4	88	1	0	0	0	0	1	0	0	0	10015	884	31	1	1756	1	MTMR7	8	17228582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96248	17228582	129135440	8876	16588											
SLC7A2	6542	broad.mit.edu	37	chr8	17396407	17396407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattggaacacctgccccacCggtttgcgacagcaagtttc	9	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17396407C>T	ENST00000470360.1	+	3	191	c.74C>T	c.(73-75)cCg>cTg	p.P25L	SLC7A2_ENST00000004531.10_Missense_Mutation_p.P25L|SLC7A2_ENST00000398090.3_Missense_Mutation_p.P25L|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000522656.1_Intron			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	0					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTGCCCCACCGGTTTGCGAC	0.418													False	0	False	8:17396407	0	T	17396407	C	T	17396407	3	4	88	1	0	0	0	0	1	0	0	0	14777	652	23	1	76	1	SLC7A2	8	17396407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167825	17396407	128967615	8877	16589											
SLC7A2	6542	broad.mit.edu	37	chr8	17422552	17422552	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgcttatccagacaacgTtcatgcagcagcagaagaaa	9	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17422552T>G	ENST00000470360.1	+	14	2108	c.1991T>G	c.(1990-1992)gTt>gGt	p.V664G	SLC7A2_ENST00000004531.10_Missense_Mutation_p.V665G|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V664G|SLC7A2_ENST00000494857.1_Missense_Mutation_p.V625G|SLC7A2_ENST00000522656.1_Missense_Mutation_p.V625G			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	625					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGACAACGTTCATGCAGCA	0.408													False	0	False	8:17422552	0	G	17422552	T	G	17422552	3	3	88	1	0	0	0	0	1	0	0	0	14777	1725	60	4	2181	4	SLC7A2	8	17422552	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26145	17422552	128941470	8878	16590											
MTUS1	57509	broad.mit.edu	37	chr8	17611250	17611250	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagagaaccatattcaaaAgtctcattcataatctcttg	4	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17611250A>G	ENST00000381869.3	-	2	2540	c.2067T>C	c.(2065-2067)acT>acC	p.T689T	MTUS1_ENST00000381862.3_Silent_p.T689T|MTUS1_ENST00000262102.6_Silent_p.T689T|MTUS1_ENST00000519263.1_Silent_p.T689T	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	689						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CATATTCAAAAGTCTCATTCA	0.328													False	0	True	8:17611250	0	G	17611250	A	G	17611250	2	3	88	1	0	0	0	0	0	0	0	1	10032	59	3	4		4	MTUS1	8	17611250	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	188698	17611250	128752772	8879	16591											
MTUS1	57509	broad.mit.edu	37	chr8	17612546	17612546	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgatttccaatatctgaAacaaaaacctcactttgcat	3	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17612546A>G	ENST00000381869.3	-	2	1244	c.771T>C	c.(769-771)gtT>gtC	p.V257V	MTUS1_ENST00000381862.3_Silent_p.V257V|MTUS1_ENST00000262102.6_Silent_p.V257V|MTUS1_ENST00000519263.1_Silent_p.V257V	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	257						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CAATATCTGAAACAAAAACCT	0.413													False	0	True	8:17612546	0	G	17612546	A	G	17612546	2	3	88	1	0	0	0	0	0	0	0	1	10032	1	1	4		4	MTUS1	8	17612546	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1296	17612546	128751476	8880	16592											
FGL1	2267	broad.mit.edu	37	chr8	17726143	17726143	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccacgtgctgaatttcatTctttggtgactagcccacca	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17726143T>G	ENST00000398056.2	-	9	1508	c.693A>C	c.(691-693)agA>agC	p.R231S	FGL1_ENST00000427924.1_Missense_Mutation_p.R231S|FGL1_ENST00000518650.1_Missense_Mutation_p.R231S|FGL1_ENST00000381841.2_Missense_Mutation_p.R231S|FGL1_ENST00000398054.1_Missense_Mutation_p.R231S|FGL1_ENST00000381840.2_Missense_Mutation_p.R231S|FGL1_ENST00000522444.1_Missense_Mutation_p.R231S			Q08830	FGL1_HUMAN	fibrinogen-like 1	231	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TGAATTTCATTCTTTGGTGAC	0.453													False	0	False	8:17726143	0	G	17726143	T	G	17726143	3	3	88	1	0	0	0	0	1	0	0	0	5912	1780	62	4	253	4	FGL1	8	17726143	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	113597	17726143	128637879	8881	16593											
PCM1	5108	broad.mit.edu	37	chr8	17869310	17869310	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctaacactgaagctActgaagaaaatgaacatgat	8	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17869310A>G	ENST00000325083.8	+	34	5924	c.5485A>G	c.(5485-5487)Act>Gct	p.T1829A	PCM1_ENST00000524226.1_Missense_Mutation_p.T1775A|PCM1_ENST00000327578.8_Missense_Mutation_p.T528A|PCM1_ENST00000519253.1_Missense_Mutation_p.T1821A	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1829					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CACTGAAGCTACTGAAGAAAA	0.393			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								False	0	False	8:17869310	0	G	17869310	A	G	17869310	3	3	88	1	0	0	0	0	1	0	0	0	11652	391	14	4	5611	4	PCM1	8	17869310	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	143167	17869310	128494712	8882	16594											
PCM1	5108	broad.mit.edu	37	chr8	17872228	17872228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctaaccctttgccgttacGtttacctgaaatggaaccct	7	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17872228G>A	ENST00000325083.8	+	36	6159	c.5720G>A	c.(5719-5721)cGt>cAt	p.R1907H	PCM1_ENST00000524226.1_Intron|PCM1_ENST00000327578.8_Missense_Mutation_p.R606H|PCM1_ENST00000519253.1_Missense_Mutation_p.R1899H	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1907					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TTGCCGTTACGTTTACCTGAA	0.438			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								False	0	True	8:17872228	0	A	17872228	G	A	17872228	3	1	88	1	0	0	0	0	1	0	0	0	11652	1145	40	1	5854	1	PCM1	8	17872228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2918	17872228	128491794	8883	16595											
PCM1	5108	broad.mit.edu	37	chr8	17883088	17883088	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaatggtagaagaagaacaGaaaaaccatttatctggtga	9	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17883088G>T	ENST00000325083.8	+	38	6409	c.5970G>T	c.(5968-5970)caG>caT	p.Q1990H	PCM1_ENST00000524226.1_Missense_Mutation_p.Q1826H|PCM1_ENST00000327578.8_Missense_Mutation_p.Q689H|PCM1_ENST00000519253.1_Missense_Mutation_p.Q1982H	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1990	Interaction with BBS4.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AAGAAGAACAGAAAAACCATT	0.289			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								False	0	True	8:17883088	0	T	17883088	G	T	17883088	3	4	88	1	0	0	0	0	1	0	0	0	11652	933	33	3	6112	3	PCM1	8	17883088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10860	17883088	128480934	8884	16596											
ASAH1	427	broad.mit.edu	37	chr8	17917112	17917112	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgattcctttctgtctcGtgtaatcacacaaccttccc	4	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17917112G>A	ENST00000262097.6	-	11	1197	c.886C>T	c.(886-888)Cga>Tga	p.R296*	ASAH1_ENST00000520781.1_Nonsense_Mutation_p.R271*|ASAH1_ENST00000381733.4_Nonsense_Mutation_p.R312*|ASAH1_ENST00000417108.2_Nonsense_Mutation_p.R206*|ASAH1_ENST00000314146.10_Nonsense_Mutation_p.R290*	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	296					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTTCTGTCTCGTGTAATCACA	0.388													False	0	False	8:17917112	0	A	17917112	G	A	17917112	4	1	88	1	0	0	0	0	0	1	0	0	1010	1153	40	1	317	1	ASAH1	8	17917112	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34024	17917112	128446910	8885	16597											
NAT2	10	broad.mit.edu	37	chr8	18258174	18258174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcttcatttataaccacaTcattttgttccttgcagacc	3	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:18258174T>G	ENST00000286479.3	+	2	768	c.661T>G	c.(661-663)Tca>Gca	p.S221A	NAT2_ENST00000520116.1_Missense_Mutation_p.S91A	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	221					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TATAACCACATCATTTTGTTC	0.368									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				False	0	False	8:18258174	0	G	18258174	T	G	18258174	3	3	88	1	0	0	0	0	1	0	0	0	10244	1435	50	4	663	4	NAT2	8	18258174	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	341062	18258174	128105848	8886	16598											
PSD3	23362	broad.mit.edu	37	chr8	18725375	18725375	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctttaatgcgctgttgtatCattggagtgaggggcatttc	12	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:18725375C>T	ENST00000440756.2	-	4	1545	c.1443G>A	c.(1441-1443)atG>atA	p.M481I	PSD3_ENST00000523619.1_Missense_Mutation_p.M416I|PSD3_ENST00000327040.8_Missense_Mutation_p.M481I			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	481					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GCTGTTGTATCATTGGAGTGA	0.458													False	0	False	8:18725375	0	T	18725375	C	T	18725375	3	4	88	1	0	0	0	0	1	0	0	0	12724	826	29	2	1788	2	PSD3	8	18725375	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	467201	18725375	127638647	8887	16599											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19315993	19315993	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgctagaggcacgatAacattgataagcgtgttggc	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19315993A>G	ENST00000454498.2	-	5	1808	c.795T>C	c.(793-795)gtT>gtC	p.V265V	CSGALNACT1_ENST00000332246.6_Silent_p.V265V|CSGALNACT1_ENST00000544602.1_Silent_p.V265V|CSGALNACT1_ENST00000522854.1_Silent_p.V265V|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.V265V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	265					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GAGGCACGATAACATTGATAA	0.443													False	0	False	8:19315993	0	G	19315993	A	G	19315993	2	3	88	1	0	0	0	0	0	0	0	1	3963	349	13	4		4	CSGALNACT1	8	19315993	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	590618	19315993	127048029	8888	16600											
INTS10	55174	broad.mit.edu	37	chr8	19675132	19675132	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggcagccaaggcgtgGctgatcacggcccgcagcct	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19675132G>A	ENST00000397977.3	+	1	482	c.84G>A	c.(82-84)tgG>tgA	p.W28*	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	28					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CCAAGGCGTGGCTGATCACGG	0.682													False	0	False	8:19675132	0	A	19675132	G	A	19675132	4	1	88	1	0	0	0	0	0	1	0	0	7826	1212	42	2	86	2	INTS10	8	19675132	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	359139	19675132	126688890	8889	16601											
INTS10	55174	broad.mit.edu	37	chr8	19681555	19681555	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatggataaaggaagacGgtaataaatagcttatttcc	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19681555G>A	ENST00000397977.3	+	7	1234	c.836G>A	c.(835-837)cGa>cAa	p.R279Q		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	279					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AAAGGAAGACGGTAATAAATA	0.353													False	0	False	8:19681555	0	A	19681555	G	A	19681555	5	1	88	1	0	0	0	0	0	0	1	0	7826	1130	39	1	862	1	INTS10	8	19681555	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6423	19681555	126682467	8890	16602											
INTS10	55174	broad.mit.edu	37	chr8	19682423	19682423	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtggtgtattccaccatgCtggtcttctttaagaatgca	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19682423C>T	ENST00000397977.3	+	8	1344	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	316					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TTCCACCATGCTGGTCTTCTT	0.373													False	0	False	8:19682423	0	T	19682423	C	T	19682423	2	4	88	1	0	0	0	0	0	0	0	1	7826	796	28	2		2	INTS10	8	19682423	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	868	19682423	126681599	8891	16603											
INTS10	55174	broad.mit.edu	37	chr8	19689592	19689592	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atacttggctttggttaagaAtcttcctcactgatatgatc	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19689592A>C	ENST00000397977.3	+	11	1746	c.1348A>C	c.(1348-1350)Atc>Ctc	p.I450L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	450					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TTGGTTAAGAATCTTCCTCAC	0.378													False	0	False	8:19689592	0	C	19689592	A	C	19689592	3	2	88	1	0	0	0	0	1	0	0	0	7826	101	4	4	1390	4	INTS10	8	19689592	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7169	19689592	126674430	8892	16604											
LPL	4023	broad.mit.edu	37	chr8	19805714	19805714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagagattttatcgacatcGaaagtaaatttgccctaagg	9	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19805714G>A	ENST00000311322.8	+	2	582	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	38					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TATCGACATCGAAAGTAAATT	0.418													False	0	True	8:19805714	0	A	19805714	G	A	19805714	3	1	88	1	0	0	0	0	1	0	0	0	8983	1059	37	1	118	1	LPL	8	19805714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116122	19805714	126558308	8893	16605											
LPL	4023	broad.mit.edu	37	chr8	19816893	19816893	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacatcccattcactctgTgagtagcacaggggggcggt	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19816893T>C	ENST00000311322.8	+	7	1609		c.e7+2			NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase						fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	ATTCACTCTGTGAGTAGCACA	0.522													False	0	False	8:19816893	0	C	19816893	T	C	19816893	5	2	88	1	0	0	0	0	0	0	1	0	8983	1710	59	4	1167	4	LPL	8	19816893	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11179	19816893	126547129	8894	16606											
ATP6V1B2	526	broad.mit.edu	37	chr8	20068811	20068811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctatcttctctgctgctgGgctaccacacaatgaggtga	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20068811G>A	ENST00000276390.2	+	6	627	c.587G>A	c.(586-588)gGg>gAg	p.G196E		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	196					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TCTGCTGCTGGGCTACCACAC	0.448													False	0	True	8:20068811	0	A	20068811	G	A	20068811	3	1	88	1	0	0	0	0	1	0	0	0	1183	1232	43	2	609	2	ATP6V1B2	8	20068811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	251918	20068811	126295211	8895	16607											
ATP6V1B2	526	broad.mit.edu	37	chr8	20072363	20072363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagaggtacctggtcgacGaggttttccaggttacatgt	14	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20072363G>A	ENST00000276390.2	+	10	1002	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	321					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		CCTGGTCGACGAGGTTTTCCA	0.463													False	0	False	8:20072363	0	A	20072363	G	A	20072363	3	1	88	1	0	0	0	0	1	0	0	0	1183	1058	37	1	1000	1	ATP6V1B2	8	20072363	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3552	20072363	126291659	8896	16608											
LZTS1	11178	broad.mit.edu	37	chr8	20110415	20110415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcctgccggagctgccGcttctcctgctgaagctgca	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20110415G>A	ENST00000381569.1	-	3	1384	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	LZTS1_ENST00000522290.1_Missense_Mutation_p.R343W|LZTS1_ENST00000265801.6_Missense_Mutation_p.R343W			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	343					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CGGAGCTGCCGCTTCTCCTGC	0.647													False	0	False	8:20110415	0	A	20110415	G	A	20110415	3	1	88	1	0	0	0	0	1	0	0	0	9201	1086	38	1	771	1	LZTS1	8	20110415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38052	20110415	126253607	8897	16609											
LZTS1	11178	broad.mit.edu	37	chr8	20110763	20110763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaggacagagccttcaGgctcatcatgttgctgtcct	12	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20110763G>A	ENST00000381569.1	-	3	1036	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	LZTS1_ENST00000522290.1_Silent_p.L227L|LZTS1_ENST00000265801.6_Silent_p.L227L			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	227					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGAGCCTTCAGGCTCATCATG	0.637													False	0	False	8:20110763	0	A	20110763	G	A	20110763	2	1	88	1	0	0	0	0	0	0	0	1	9201	991	35	2		2	LZTS1	8	20110763	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	348	20110763	126253259	8898	16610											
GFRA2	2675	broad.mit.edu	37	chr8	21608179	21608179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcataggagcagctggGcaggatggtttgccggcggc	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21608179G>A	ENST00000524240.1	-	4	1365	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	GFRA2_ENST00000400782.4_Missense_Mutation_p.P134S|GFRA2_ENST00000517328.1_Missense_Mutation_p.P239S|GFRA2_ENST00000518077.1_Missense_Mutation_p.P106S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	239						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GAGCAGCTGGGCAGGATGGTT	0.662													False	0	True	8:21608179	0	A	21608179	G	A	21608179	3	1	88	1	0	0	0	0	1	0	0	0	6393	1203	42	2	703	2	GFRA2	8	21608179	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1497416	21608179	124755843	8899	16611											
XPO7	23039	broad.mit.edu	37	chr8	21840243	21840243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcaaagccacagagccCcacatgctggaaacttacac	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21840243C>T	ENST00000434536.1	+	11	1326	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	XPO7_ENST00000252512.9_Silent_p.P399P|XPO7_ENST00000433566.4_Silent_p.P400P			Q9UIA9	XPO7_HUMAN	exportin 7	399				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCACAGAGCCCCACATGCTGG	0.502													False	0	True	8:21840243	0	T	21840243	C	T	21840243	2	4	88	1	0	0	0	0	0	0	0	1	17533	610	22	2		2	XPO7	8	21840243	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232064	21840243	124523779	8900	16612											
XPO7	23039	broad.mit.edu	37	chr8	21844746	21844746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagcttttttgaacagtttCgtaagatctacattggggac	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21844746C>T	ENST00000434536.1	+	14	1801	c.1699C>T	c.(1699-1701)Cgt>Tgt	p.R567C	XPO7_ENST00000252512.9_Missense_Mutation_p.R558C|XPO7_ENST00000433566.4_Missense_Mutation_p.R559C			Q9UIA9	XPO7_HUMAN	exportin 7	558					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGAACAGTTTCGTAAGATCTA	0.483													False	0	True	8:21844746	0	T	21844746	C	T	21844746	3	4	88	1	0	0	0	0	1	0	0	0	17533	884	31	1	1778	1	XPO7	8	21844746	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4503	21844746	124519276	8901	16613											
FAM160B2	64760	broad.mit.edu	37	chr8	21955759	21955759	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgctgagaccgaggagCtggacggtgggaccacagag	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21955759C>A	ENST00000289921.7	+	6	752	c.706C>A	c.(706-708)Ctg>Atg	p.L236M		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	236										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GACCGAGGAGCTGGACGGTGG	0.652													False	0	False	8:21955759	0	A	21955759	C	A	21955759	3	1	88	1	0	0	0	0	1	0	0	0	5507	796	28	3	728	3	FAM160B2	8	21955759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111013	21955759	124408263	8902	16614											
NUDT18	79873	broad.mit.edu	37	chr8	21965776	21965776	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagcgcctccacgatggtctCccctggctccattctccccg	8	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21965776C>A	ENST00000309188.6	-	4	362	c.244G>T	c.(244-246)Gag>Tag	p.E82*	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Nonsense_Mutation_p.E5*	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	82	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		ACGATGGTCTCCCCTGGCTCC	0.672													False	0	True	8:21965776	0	A	21965776	C	A	21965776	4	1	88	1	0	0	0	0	0	1	0	0	10803	864	30	3	735	3	NUDT18	8	21965776	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10017	21965776	124398246	8903	16615											
HR	55806	broad.mit.edu	37	chr8	21982906	21982906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaaccactgagcaggtgCttggcgaggcctgtgctgag	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21982906C>T	ENST00000381418.4	-	5	3148	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K	HR_ENST00000312841.8_Silent_p.K556K	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	556							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGAGCAGGTGCTTGGCGAGGC	0.687													False	0	False	8:21982906	0	T	21982906	C	T	21982906	2	4	88	1	0	0	0	0	0	0	0	1	7394	796	28	2		2	HR	8	21982906	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17130	21982906	124381116	8904	16616											
HR	55806	broad.mit.edu	37	chr8	21982977	21982977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcagagctggagttggtggCtgtgtcttcctcctgctgca	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21982977C>A	ENST00000381418.4	-	5	3077	c.1597G>T	c.(1597-1599)Gcc>Tcc	p.A533S	HR_ENST00000312841.8_Missense_Mutation_p.A533S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	533							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GAGTTGGTGGCTGTGTCTTCC	0.677													False	0	False	8:21982977	0	A	21982977	C	A	21982977	3	1	88	1	0	0	0	0	1	0	0	0	7394	797	28	3	2032	3	HR	8	21982977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71	21982977	124381045	8905	16617											
HR	55806	broad.mit.edu	37	chr8	21985060	21985060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtacccaaggttcccatCgcctggcccagcccagacgt	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21985060C>T	ENST00000381418.4	-	3	2375	c.895G>A	c.(895-897)Gat>Aat	p.D299N	HR_ENST00000312841.8_Missense_Mutation_p.D299N	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	299							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGTTCCCATCGCCTGGCCCA	0.657													False	0	False	8:21985060	0	T	21985060	C	T	21985060	3	4	88	1	0	0	0	0	1	0	0	0	7394	884	31	1	2742	1	HR	8	21985060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2083	21985060	124378962	8906	16618											
HR	55806	broad.mit.edu	37	chr8	21986450	21986450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccattctgggggccctcGccctccacaagtgggagcat	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21986450G>A	ENST00000381418.4	-	2	1714	c.234C>T	c.(232-234)ggC>ggT	p.G78G	HR_ENST00000312841.8_Silent_p.G78G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	78							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGGCCCTCGCCCTCCACAA	0.652													False	0	True	8:21986450	0	A	21986450	G	A	21986450	2	1	88	1	0	0	0	0	0	0	0	1	7394	1074	38	1		1	HR	8	21986450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1390	21986450	124377572	8907	16619											
HR	55806	broad.mit.edu	37	chr8	21986527	21986527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtctggggtgctcaggaCgcccctccaaaagggagcag	16	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21986527C>T	ENST00000381418.4	-	2	1637	c.157G>A	c.(157-159)Gtc>Atc	p.V53I	HR_ENST00000312841.8_Missense_Mutation_p.V53I	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	53							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTGCTCAGGACGCCCCTCCAA	0.677													False	0	False	8:21986527	0	T	21986527	C	T	21986527	3	4	88	1	0	0	0	0	1	0	0	0	7394	536	19	1	3484	1	HR	8	21986527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	21986527	124377495	8908	16620											
REEP4	80346	broad.mit.edu	37	chr8	21997708	21997708	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagataaaaatgtctgtaacGatctctgctgccatgaagag	10	7	2	3	rs146312249		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21997708G>A	ENST00000306306.3	-	3	627	c.159C>T	c.(157-159)atC>atT	p.I53I	REEP4_ENST00000523293.1_Silent_p.I53I|REEP4_ENST00000334530.5_Silent_p.I53I	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	53						integral to membrane				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TGTCTGTAACGATCTCTGCTG	0.597													False	0	False	8:21997708	0	A	21997708	G	A	21997708	2	1	88	1	0	0	0	0	0	0	0	1	13286	1048	37	1		1	REEP4	8	21997708	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11181	21997708	124366314	8909	16621											
SFTPC	6440	broad.mit.edu	37	chr8	22020132	22020132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttggcattccctgctgcCcagtgcacctgaaacgcctt	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22020132C>T	ENST00000521315.1	+	2	120	c.88C>T	c.(88-90)Cca>Tca	p.P30S	SFTPC_ENST00000318561.3_Missense_Mutation_p.P30S|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000522109.1_Missense_Mutation_p.P30S|SFTPC_ENST00000437090.2_Missense_Mutation_p.P30S			P11686	PSPC_HUMAN	surfactant protein C	30					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCCCTGCTGCCCAGTGCACCT	0.612													False	0	True	8:22020132	0	T	22020132	C	T	22020132	3	4	88	1	0	0	0	0	1	0	0	0	14273	623	22	2	94	2	SFTPC	8	22020132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22424	22020132	124343890	8910	16622											
SFTPC	6440	broad.mit.edu	37	chr8	22021513	22021513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccttcctgggcatggccGtgagcaccctgtgtggcgag	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22021513G>A	ENST00000521315.1	+	5	567	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	SFTPC_ENST00000318561.3_Missense_Mutation_p.V185M|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Missense_Mutation_p.V132M|SFTPC_ENST00000522109.1_3'UTR|SFTPC_ENST00000437090.2_3'UTR			P11686	PSPC_HUMAN	surfactant protein C	185	BRICHOS.				respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGCATGGCCGTGAGCACCCT	0.682													False	0	False	8:22021513	0	A	22021513	G	A	22021513	3	1	88	1	0	0	0	0	1	0	0	0	14273	1145	40	1	571	1	SFTPC	8	22021513	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1381	22021513	124342509	8911	16623											
BMP1	649	broad.mit.edu	37	chr8	22035193	22035193	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgctggacaggactcttcCtgagaccctccccattcccc	7	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22035193C>A	ENST00000354870.5	+	6	1110	c.844C>A	c.(844-846)Ctg>Atg	p.L282M	BMP1_ENST00000397814.3_Intron|BMP1_ENST00000306385.5_Intron|BMP1_ENST00000306349.8_Intron|BMP1_ENST00000397816.3_Intron			P13497	BMP1_HUMAN	bone morphogenetic protein 1	0	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGACTCTTCCTGAGACCCTC	0.592													False	0	False	8:22035193	0	A	22035193	C	A	22035193	3	1	88	1	0	0	0	0	1	0	0	0	1461	696	24	3		3	BMP1	8	22035193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13680	22035193	124328829	8912	16624											
BMP1	649	broad.mit.edu	37	chr8	22037910	22037910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccctgcaagacagcacaGgcaacttctcctcccctgaa	7	16	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22037910G>A	ENST00000306385.5	+	8	1661	c.991G>A	c.(991-993)Ggc>Agc	p.G331S	BMP1_ENST00000397814.3_Missense_Mutation_p.G331S|BMP1_ENST00000306349.8_Missense_Mutation_p.G331S|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.G331S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	331	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGACAGCACAGGCAACTTCTC	0.602													False	0	False	8:22037910	0	A	22037910	G	A	22037910	3	1	88	1	0	0	0	0	1	0	0	0	1461	1000	35	2	1021	2	BMP1	8	22037910	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2717	22037910	124326112	8913	16625											
BMP1	649	broad.mit.edu	37	chr8	22053064	22053064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagtgcagctgtgaccccGggtacgagctggccccagac	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22053064G>A	ENST00000306385.5	+	13	2399	c.1729G>A	c.(1729-1731)Ggg>Agg	p.G577R	BMP1_ENST00000397814.3_Missense_Mutation_p.G577R|BMP1_ENST00000306349.8_Missense_Mutation_p.G577R|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.G577R	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	577	EGF-like 1; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTGACCCCGGGTACGAGCT	0.662													False	0	True	8:22053064	0	A	22053064	G	A	22053064	3	1	88	1	0	0	0	0	1	0	0	0	1461	1116	39	1	1779	1	BMP1	8	22053064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15154	22053064	124310958	8914	16626											
BMP1	649	broad.mit.edu	37	chr8	22059428	22059428	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctccatgacaacaagcaCgactgcaaagaaggtacggg	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22059428C>T	ENST00000306385.5	+	16	2890	c.2220C>T	c.(2218-2220)caC>caT	p.H740H	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	740	EGF-like 2; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACAACAAGCACGACTGCAAAG	0.592													False	0	False	8:22059428	0	T	22059428	C	T	22059428	2	4	88	1	0	0	0	0	0	0	0	1	1461	535	19	1		1	BMP1	8	22059428	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6364	22059428	124304594	8915	16627											
BMP1	649	broad.mit.edu	37	chr8	22064400	22064400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtgacatccaccagtgGtaccatcaccagccccaact	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22064400G>A	ENST00000306385.5	+	17	2937	c.2267G>A	c.(2266-2268)gGt>gAt	p.G756D	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	756	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCCACCAGTGGTACCATCACC	0.622													False	0	False	8:22064400	0	A	22064400	G	A	22064400	3	1	88	1	0	0	0	0	1	0	0	0	1461	1261	44	2	2423	2	BMP1	8	22064400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4972	22064400	124299622	8916	16628											
BMP1	649	broad.mit.edu	37	chr8	22067082	22067082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtggccgaggaaggctaCggcgtggagctcgtgttcca	16	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22067082C>T	ENST00000306385.5	+	19	3370	c.2700C>T	c.(2698-2700)taC>taT	p.Y900Y	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	900	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGAAGGCTACGGCGTGGAGC	0.592													False	0	False	8:22067082	0	T	22067082	C	T	22067082	2	4	88	1	0	0	0	0	0	0	0	1	1461	547	19	1		1	BMP1	8	22067082	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2682	22067082	124296940	8917	16629											
BMP1	649	broad.mit.edu	37	chr8	22069241	22069241	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactccacagcaggaagtgAccactgcctgagcaggggcg	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22069241A>G	ENST00000306385.5	+	20	3631	c.2961A>G	c.(2959-2961)tgA>tgG	p.*987W	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	0					cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAGGAAGTGACCACTGCCTG	0.602													False	0	False	8:22069241	0	G	22069241	A	G	22069241	4	3	88	1	0	0	0	0	0	0	0	0	1461	288	10	4	3129	4	BMP1	8	22069241	Nonstop_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2159	22069241	124294781	8918	16630											
PHYHIP	9796	broad.mit.edu	37	chr8	22079169	22079169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatggcgtagtggtaggcCgtgtacatgcagtagaagtc	16	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22079169C>T	ENST00000454243.2	-	5	1264	c.690G>A	c.(688-690)acG>acA	p.T230T	PHYHIP_ENST00000321613.3_Silent_p.T230T	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	230										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		AGTGGTAGGCCGTGTACATGC	0.627													False	0	False	8:22079169	0	T	22079169	C	T	22079169	2	4	88	1	0	0	0	0	0	0	0	1	11935	639	23	1		1	PHYHIP	8	22079169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9928	22079169	124284853	8919	16631											
PIWIL2	55124	broad.mit.edu	37	chr8	22140627	22140627	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcagcagagaagtggacaAgcctccctgtaccttcagca	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22140627A>C	ENST00000356766.6	+	5	654	c.506A>C	c.(505-507)aAg>aCg	p.K169T	PIWIL2_ENST00000454009.2_Missense_Mutation_p.K169T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.K169T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	169					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GAAGTGGACAAGCCTCCCTGT	0.587													False	0	False	8:22140627	0	C	22140627	A	C	22140627	3	2	88	1	0	0	0	0	1	0	0	0	12027	72	3	4	520	4	PIWIL2	8	22140627	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61458	22140627	124223395	8920	16632											
PIWIL2	55124	broad.mit.edu	37	chr8	22161539	22161539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatctctttccaaaggcatgCcatttatcagcagaataaag	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22161539C>A	ENST00000356766.6	+	11	1335	c.1187C>A	c.(1186-1188)gCc>gAc	p.A396D	PIWIL2_ENST00000454009.2_Missense_Mutation_p.A396D|PIWIL2_ENST00000521356.1_Missense_Mutation_p.A396D	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	396	PAZ.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CAAAGGCATGCCATTTATCAG	0.373													False	0	False	8:22161539	0	A	22161539	C	A	22161539	3	1	88	1	0	0	0	0	1	0	0	0	12027	739	26	3	1225	3	PIWIL2	8	22161539	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20912	22161539	124202483	8921	16633											
PIWIL2	55124	broad.mit.edu	37	chr8	22168639	22168639	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctagatccccatgcatttCtgggcacttttttacccaaa	5	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22168639C>A	ENST00000356766.6	+	16	1963	c.1815C>A	c.(1813-1815)ttC>ttA	p.F605L	PIWIL2_ENST00000454009.2_Missense_Mutation_p.F605L|PIWIL2_ENST00000521356.1_Missense_Mutation_p.F605L	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	605					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCATGCATTTCTGGGCACTTT	0.418													False	0	True	8:22168639	0	A	22168639	C	A	22168639	3	1	88	1	0	0	0	0	1	0	0	0	12027	912	32	3	1873	3	PIWIL2	8	22168639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7100	22168639	124195383	8922	16634											
SLC39A14	23516	broad.mit.edu	37	chr8	22267616	22267616	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctaacgcgctattccaGctcatcccagaggtgcagta	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22267616G>T	ENST00000359741.5	+	4	790	c.615G>T	c.(613-615)caG>caT	p.Q205H	SLC39A14_ENST00000240095.6_Intron|SLC39A14_ENST00000381237.1_Intron|SLC39A14_ENST00000289952.5_Intron	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	205						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CGCTATTCCAGCTCATCCCAG	0.582													False	0	False	8:22267616	0	T	22267616	G	T	22267616	3	4	88	1	0	0	0	0	1	0	0	0	14697	962	34	3	625	3	SLC39A14	8	22267616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98977	22267616	124096406	8923	16635											
PPP3CC	5533	broad.mit.edu	37	chr8	22355569	22355569	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaaacattgtttctgcTtcggggaaatcatgaatgca	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22355569T>G	ENST00000240139.5	+	4	755	c.428T>G	c.(427-429)cTt>cGt	p.L143R	PPP3CC_ENST00000518852.1_Missense_Mutation_p.L143R|PPP3CC_ENST00000289963.8_Missense_Mutation_p.L143R|PPP3CC_ENST00000397775.3_Missense_Mutation_p.L143R	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	143					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTGTTTCTGCTTCGGGGAAAT	0.333													False	0	False	8:22355569	0	G	22355569	T	G	22355569	3	3	88	1	0	0	0	0	1	0	0	0	12473	1609	56	4	442	4	PPP3CC	8	22355569	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87953	22355569	124008453	8924	16636											
PDLIM2	64236	broad.mit.edu	37	chr8	22439020	22439020	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatccgccagagcccctcGcccctgcggctgcagctgga	12	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22439020G>A	ENST00000265810.4	+	2	337	c.222G>A	c.(220-222)tcG>tcA	p.S74S	PDLIM2_ENST00000397760.4_Silent_p.S74S|PDLIM2_ENST00000339162.7_Silent_p.S74S|PDLIM2_ENST00000409417.1_Silent_p.S74S|PDLIM2_ENST00000397761.2_Silent_p.S74S|PDLIM2_ENST00000409141.1_Silent_p.S74S|PDLIM2_ENST00000308354.7_Silent_p.S324S	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	74	PDZ.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGAGCCCCTCGCCCCTGCGGC	0.667													False	0	True	8:22439020	0	A	22439020	G	A	22439020	2	1	88	1	0	0	0	0	0	0	0	1	11748	1074	38	1		1	PDLIM2	8	22439020	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83451	22439020	123925002	8925	16637											
C8orf58	541565	broad.mit.edu	37	chr8	22458661	22458661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggagttctgagccccccGcccaggtaggccgactcctg	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22458661G>A	ENST00000409586.3	+	2	427	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	C8orf58_ENST00000453427.2_3'UTR|C8orf58_ENST00000289989.5_Missense_Mutation_p.A103T	NM_001013842.2|NM_001198827.1|NM_173686.2	NP_001013864.1|NP_001185756.1|NP_775957.2	Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	103										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGAGCCCCCCGCCCAGGTAGG	0.657													False	0	True	8:22458661	0	A	22458661	G	A	22458661	3	1	88	1	0	0	0	0	1	0	0	0	2453	1087	38	1	313	1	C8orf58	8	22458661	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19641	22458661	123905361	8926	16638											
EGR3	1960	broad.mit.edu	37	chr8	22548815	22548815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctgaagccgggggcaccCccaagatgccggcgctcatg	13	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22548815C>T	ENST00000317216.2	-	2	692	c.335G>A	c.(334-336)gGg>gAg	p.G112E	EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.G74E|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000519492.1_3'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	112					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CGGGGGCACCCCCAAGATGCC	0.637													False	0	True	8:22548815	0	T	22548815	C	T	22548815	3	4	88	1	0	0	0	0	1	0	0	0	5003	623	22	2	832	2	EGR3	8	22548815	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90154	22548815	123815207	8927	16639											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864647	22864647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagttctatgacctgttcCtcatggacctgagtgagggg	12	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22864647C>A	ENST00000251822.6	+	5	1426	c.889C>A	c.(889-891)Ctc>Atc	p.L297I	RHOBTB2_ENST00000519685.1_Missense_Mutation_p.L319I|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.L304I|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	297	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGACCTGTTCCTCATGGACCT	0.627													False	0	False	8:22864647	0	A	22864647	C	A	22864647	3	1	88	1	0	0	0	0	1	0	0	0	13413	681	24	3	988	3	RHOBTB2	8	22864647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315832	22864647	123499375	8928	16640											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864733	22864733	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccagggccactctgatcaAcaccaccaccatcaccacca	4	20	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22864733A>G	ENST00000251822.6	+	5	1512	c.975A>G	c.(973-975)caA>caG	p.Q325Q	RHOBTB2_ENST00000519685.1_Silent_p.Q347Q|RHOBTB2_ENST00000522948.1_Silent_p.Q332Q|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	325	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ACTCTGATCAAcaccaccacc	0.652													False	0	True	8:22864733	0	G	22864733	A	G	22864733	2	3	88	1	0	0	0	0	0	0	0	1	13413	40	2	4		4	RHOBTB2	8	22864733	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	86	22864733	123499289	8929	16641											
TNFRSF10B	8795	broad.mit.edu	37	chr8	22884752	22884752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtgggctgcaagataCtcacgatctcattgaggaca	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22884752C>T	ENST00000276431.4	-	7	1114	c.830G>A	c.(829-831)aGt>aAt	p.S277N	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.S248N|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.S97N	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	277					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTGCAAGATACTCACGATCTC	0.547													False	0	False	8:22884752	0	T	22884752	C	T	22884752	3	4	88	1	0	0	0	0	1	0	0	0	16363	565	20	2	504	2	TNFRSF10B	8	22884752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20019	22884752	123479270	8930	16642											
TNFRSF10B	8795	broad.mit.edu	37	chr8	22887129	22887129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctgtctcaccctgtgCggcacttccggcacatctca	9	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22887129C>T	ENST00000276431.4	-	4	754	c.470G>A	c.(469-471)cGc>cAc	p.R157H	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.R157H|TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.R6H	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	157					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TCACCCTGTGCGGCACTTCCG	0.592													False	0	False	8:22887129	0	T	22887129	C	T	22887129	3	4	88	1	0	0	0	0	1	0	0	0	16363	768	27	1	876	1	TNFRSF10B	8	22887129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2377	22887129	123476893	8931	16643											
CHMP7	91782	broad.mit.edu	37	chr8	23106877	23106877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgaggaggtccttgtcGctgtggagctgttgaaggtg	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23106877G>A	ENST00000397677.1	+	3	1102	c.454G>A	c.(454-456)Gct>Act	p.A152T	CHMP7_ENST00000313219.7_Missense_Mutation_p.A152T	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	152					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGTCCTTGTCGCTGTGGAGCT	0.537													False	0	False	8:23106877	0	A	23106877	G	A	23106877	3	1	88	1	0	0	0	0	1	0	0	0	3384	1087	38	1	460	1	CHMP7	8	23106877	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219748	23106877	123257145	8932	16644											
CHMP7	91782	broad.mit.edu	37	chr8	23117748	23117748	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgacaacccccgcaaTaggcattttaccaacagcgt	7	15	0	1	rs139217760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23117748T>C	ENST00000397677.1	+	10	1860	c.1212T>C	c.(1210-1212)aaT>aaC	p.N404N	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Silent_p.N404N	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	404					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ACCCCCGCAATAGGCATTTTA	0.468													False	0	False	8:23117748	0	C	23117748	T	C	23117748	2	2	88	1	0	0	0	0	0	0	0	1	3384	1403	49	4		4	CHMP7	8	23117748	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10871	23117748	123246274	8933	16645											
CHMP7	91782	broad.mit.edu	37	chr8	23117774	23117774	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaccaacagcgtgcctaAccctaggatctcagatgctg	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23117774A>G	ENST00000397677.1	+	10	1886	c.1238A>G	c.(1237-1239)aAc>aGc	p.N413S	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.N413S	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	413					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	p.P412fs*4(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGCGTGCCTAACCCTAGGATC	0.488													False	0	True	8:23117774	0	G	23117774	A	G	23117774	3	3	88	1	0	0	0	0	1	0	0	0	3384	43	2	4	1272	4	CHMP7	8	23117774	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26	23117774	123246248	8934	16646											
LOXL2	4017	broad.mit.edu	37	chr8	23185946	23185946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggcactcccaaagcccaGctctctgcagaccacactgg	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23185946G>T	ENST00000389131.3	-	6	1468	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	367	SRCR 3.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCAAAGCCCAGCTCTCTGCAG	0.627													False	0	True	8:23185946	0	T	23185946	G	T	23185946	3	4	88	1	0	0	0	0	1	0	0	0	8962	962	34	3	1261	3	LOXL2	8	23185946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68172	23185946	123178076	8935	16647											
LOXL2	4017	broad.mit.edu	37	chr8	23198655	23198655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctccatcactggggtgCgcttgcggtaggttgagagg	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23198655C>T	ENST00000389131.3	-	4	962	c.593G>A	c.(592-594)cGc>cAc	p.R198H	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	198	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CACTGGGGTGCGCTTGCGGTA	0.572													False	0	False	8:23198655	0	T	23198655	C	T	23198655	3	4	88	1	0	0	0	0	1	0	0	0	8962	768	27	1	1775	1	LOXL2	8	23198655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12709	23198655	123165367	8936	16648											
LOXL2	4017	broad.mit.edu	37	chr8	23217627	23217627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggttgatcaacgaattGtcaaatttgaacccaggaat	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23217627G>A	ENST00000389131.3	-	3	876	c.507C>T	c.(505-507)gaC>gaT	p.D169D	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	169					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCAACGAATTGTCAAATTTGA	0.478													False	0	False	8:23217627	0	A	23217627	G	A	23217627	2	1	88	1	0	0	0	0	0	0	0	1	8962	1368	48	2		2	LOXL2	8	23217627	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18972	23217627	123146395	8937	16649											
ENTPD4	9583	broad.mit.edu	37	chr8	23302059	23302059	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgctctgcagcaaagTtcaaaagtggagaaatgtaa	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23302059T>C	ENST00000358689.4	-	5	708	c.473A>G	c.(472-474)aAc>aGc	p.N158S	ENTPD4_ENST00000417069.2_Missense_Mutation_p.N158S|ENTPD4_ENST00000356206.6_Missense_Mutation_p.N158S	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	158					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TGCAGCAAAGTTCAAAAGTGG	0.438													False	0	False	8:23302059	0	C	23302059	T	C	23302059	3	2	88	1	0	0	0	0	1	0	0	0	5173	1725	60	4	1413	4	ENTPD4	8	23302059	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	84432	23302059	123061963	8938	16650											
ENTPD4	9583	broad.mit.edu	37	chr8	23305394	23305394	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcggtaactcgtgccaGgtaccttgtatagaaacaca	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23305394G>T	ENST00000358689.4	-	4	446	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	ENTPD4_ENST00000417069.2_Missense_Mutation_p.L71M|ENTPD4_ENST00000356206.6_Missense_Mutation_p.L71M	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	71					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ACTCGTGCCAGGTACCTTGTA	0.418													False	0	False	8:23305394	0	T	23305394	G	T	23305394	3	4	88	1	0	0	0	0	1	0	0	0	5173	991	35	3	1679	3	ENTPD4	8	23305394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3335	23305394	123058628	8939	16651											
STC1	6781	broad.mit.edu	37	chr8	23709021	23709021	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgttggcgatgcattttaaGctctctttgacgaatgcttt	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23709021G>T	ENST00000290271.2	-	3	568	c.285C>A	c.(283-285)agC>agA	p.S95R	STC1_ENST00000524323.1_Missense_Mutation_p.S26R	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	95					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGCATTTTAAGCTCTCTTTGA	0.502													False	0	True	8:23709021	0	T	23709021	G	T	23709021	3	4	88	1	0	0	0	0	1	0	0	0	15357	962	34	3	466	3	STC1	8	23709021	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	403627	23709021	122655001	8940	16652											
ADAM28	10863	broad.mit.edu	37	chr8	24181515	24181515	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatattgctcagttaatcAcgtatgtacagattttctcc	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24181515A>C	ENST00000265769.4	+	9	999	c.889A>C	c.(889-891)Aca>Cca	p.T297P	ADAM28_ENST00000397649.3_Splice_Site_p.T44P|ADAM28_ENST00000540823.1_Splice_Site_p.T64P|ADAM28_ENST00000437154.2_Splice_Site_p.T297P|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	297	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCAGTTAATCACGTATGTACA	0.423													False	0	False	8:24181515	0	C	24181515	A	C	24181515	5	2	88	1	0	0	0	0	0	0	1	0	246	173	6	4	923	4	ADAM28	8	24181515	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	472494	24181515	122182507	8941	16653											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24254940	24254940	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgggaaacaaggcccaattCgaatctctagatcactcaaa	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24254940C>T	ENST00000538205.1	+	7	908	c.361C>T	c.(361-363)Cga>Tga	p.R121*	ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.R121*|ADAMDEC1_ENST00000256412.4_Nonsense_Mutation_p.R200*|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	200			M -> T (in dbSNP:rs7007084).		integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGCCCAATTCGAATCTCTAG	0.433													False	0	False	8:24254940	0	T	24254940	C	T	24254940	4	4	88	1	0	0	0	0	0	1	0	0	254	876	31	1	620	1	ADAMDEC1	8	24254940	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73425	24254940	122109082	8942	16654											
ADAM7	8756	broad.mit.edu	37	chr8	24342814	24342814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtggctctactcacatgtGcaaggaatttcttatccagg	9	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24342814G>A	ENST00000175238.6	+	10	983	c.900G>A	c.(898-900)gtG>gtA	p.V300V	ADAM7_ENST00000520720.1_Silent_p.V72V|ADAM7_ENST00000380789.1_Silent_p.V300V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	300	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.V300V(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTCACATGTGCAAGGAATTT	0.353													False	0	False	8:24342814	0	A	24342814	G	A	24342814	2	1	88	1	0	0	0	0	0	0	0	1	251	1306	46	2		2	ADAM7	8	24342814	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87874	24342814	122021208	8943	16655											
ADAM7	8756	broad.mit.edu	37	chr8	24346730	24346730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aataccaccagtacttgaagGattataagccaacatgcatg	7	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24346730G>A	ENST00000175238.6	+	12	1233	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	ADAM7_ENST00000520720.1_Missense_Mutation_p.D156N|ADAM7_ENST00000380789.1_Missense_Mutation_p.D384N|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	384	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTACTTGAAGGATTATAAGCC	0.353													False	0	False	8:24346730	0	A	24346730	G	A	24346730	3	1	88	1	0	0	0	0	1	0	0	0	251	1174	41	2	1196	2	ADAM7	8	24346730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3916	24346730	122017292	8944	16656											
NEFM	4741	broad.mit.edu	37	chr8	24772180	24772180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccaggccgaagagtggTtcaaatgccgctacgccaag	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24772180T>C	ENST00000221166.5	+	1	1656	c.874T>C	c.(874-876)Ttc>Ctc	p.F292L	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.F292L|NEFM_ENST00000518131.1_Missense_Mutation_p.F292L|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	292	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGAAGAGTGGTTCAAATGCCG	0.597													False	0	False	8:24772180	0	C	24772180	T	C	24772180	3	2	88	1	0	0	0	0	1	0	0	0	10384	1725	60	4	876	4	NEFM	8	24772180	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	425450	24772180	121591842	8945	16657											
NEFL	4747	broad.mit.edu	37	chr8	24813446	24813446	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtcggcgcctttgcgcGcttccatcagccggccctcg	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24813446G>A	ENST00000221169.5	-	0	1178							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCCTTTGCGCGCTTCCATCAG	0.652													False	0	True	8:24813446	0	A	24813446	G	A	24813446	1	1	88	0	1	0	0	0	0	0	0	0	10383	1087	38	1		1	NEFL	8	24813446	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41266	24813446	121550576	8946	16658											
NEFL	4747	broad.mit.edu	37	chr8	24813505	24813505	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcctcttcatagcgcgcCtgcaggttgcgcagggtctc	11	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24813505C>T	ENST00000221169.5	-	0	1119							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CATAGCGCGCCTGCAGGTTGC	0.716													False	0	True	8:24813505	0	T	24813505	C	T	24813505	1	4	88	0	1	0	0	0	0	0	0	0	10383	680	24	2		2	NEFL	8	24813505	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59	24813505	121550517	8947	16659											
DOCK5	80005	broad.mit.edu	37	chr8	25183050	25183050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctcatctgctccacaaaGctcacccagaatggtaggag	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25183050G>A	ENST00000276440.7	+	18	1934	c.1890G>A	c.(1888-1890)aaG>aaA	p.K630K		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	630	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCTCCACAAAGCTCACCCAGA	0.478													False	0	True	8:25183050	0	A	25183050	G	A	25183050	2	1	88	1	0	0	0	0	0	0	0	1	4720	962	34	2		2	DOCK5	8	25183050	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	369545	25183050	121180972	8948	16660											
DOCK5	80005	broad.mit.edu	37	chr8	25193798	25193798	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctatgtggctaatgcagatGactccagcaagactgaactg	10	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25193798G>A	ENST00000276440.7	+	22	2280	c.2236G>A	c.(2236-2238)Gac>Aac	p.D746N		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	746						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TAATGCAGATGACTCCAGCAA	0.408													False	0	False	8:25193798	0	A	25193798	G	A	25193798	3	1	88	1	0	0	0	0	1	0	0	0	4720	1290	45	2	2322	2	DOCK5	8	25193798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10748	25193798	121170224	8949	16661											
DOCK5	80005	broad.mit.edu	37	chr8	25246651	25246651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagtatgagaggcgagaGgacttcagcctgaggttgtt	16	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25246651G>A	ENST00000276440.7	+	41	4220	c.4176G>A	c.(4174-4176)gaG>gaA	p.E1392E		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1392	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGGCGAGAGGACTTCAGCC	0.502													False	0	False	8:25246651	0	A	25246651	G	A	25246651	2	1	88	1	0	0	0	0	0	0	0	1	4720	991	35	2		2	DOCK5	8	25246651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52853	25246651	121117371	8950	16662											
GNRH1	2796	broad.mit.edu	37	chr8	25280756	25280756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctctctttcctccagggcGcagtccataggaccagtgct	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25280756G>A	ENST00000276414.4	-	1	1414	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	GNRH1_ENST00000421054.2_Missense_Mutation_p.R31C	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	31					cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		CCTCCAGGGCGCAGTCCATAG	0.433													False	0	False	8:25280756	0	A	25280756	G	A	25280756	3	1	88	1	0	0	0	0	1	0	0	0	6592	1087	38	1	199	1	GNRH1	8	25280756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34105	25280756	121083266	8951	16663											
KCTD9	54793	broad.mit.edu	37	chr8	25293013	25293013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaacgagaaagatcagcacCactgaagttcaaaccctgaa	7	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25293013C>A	ENST00000221200.4	-	9	899	c.679G>T	c.(679-681)Ggt>Tgt	p.G227C		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	227						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		AGATCAGCACCACTGAAGTTC	0.348													False	0	False	8:25293013	0	A	25293013	C	A	25293013	3	1	88	1	0	0	0	0	1	0	0	0	8166	594	21	3	506	3	KCTD9	8	25293013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12257	25293013	121071009	8952	16664											
CDCA2	157313	broad.mit.edu	37	chr8	25337590	25337590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccccaagacctttgtacttCgttctgtactgaagaaaccc	6	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25337590C>T	ENST00000330560.3	+	8	1459	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.R313C	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	328					cell division|mitosis	cytoplasm|nucleus		p.R328C(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTTTGTACTTCGTTCTGTACT	0.458													False	0	False	8:25337590	0	T	25337590	C	T	25337590	3	4	88	1	0	0	0	0	1	0	0	0	3109	884	31	1	1008	1	CDCA2	8	25337590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44577	25337590	121026432	8953	16665											
CDCA2	157313	broad.mit.edu	37	chr8	25344852	25344853	+	Splice_Site	INS	-	-	TG													acttctaacagaagaaatgtINSaagtgtttgtgtttggcaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25344852_25344853insTG	ENST00000330560.3	+	12	2010		c.e12+2		CDCA2_ENST00000521098.2_Splice_Site|CDCA2_ENST00000380665.3_Splice_Site	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2						cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGAAGAAATGTAAGTGTTTGTG	0.327													False	0	False	8:25344852	0	TG	25344853	-	TG	25344852	8	5	88	1	0	1	1	0	0	0	1	0	3109	1652	57	0	1577	0	CDCA2	8	25344852	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	7262	25344852	121019170	8954	16666											
CDCA2	157313	broad.mit.edu	37	chr8	25364262	25364262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaataaaaatattccaaaaGcaaaaaataagtcagaaagt	4	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25364262G>A	ENST00000330560.3	+	15	2557	c.2080G>A	c.(2080-2082)Gca>Aca	p.A694T	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.A679T	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	694					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TATTCCAAAAGCAAAAAATAA	0.338													False	0	True	8:25364262	0	A	25364262	G	A	25364262	3	1	88	1	0	0	0	0	1	0	0	0	3109	971	34	2	2134	2	CDCA2	8	25364262	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19410	25364262	120999760	8955	16667											
PPP2R2A	5520	broad.mit.edu	37	chr8	26151208	26151208	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagggaatgatattcagTggtgtttttctcaggtgaaa	14	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26151208T>C	ENST00000380737.3	+	2	363	c.34T>C	c.(34-36)Tgg>Cgg	p.W12R	PPP2R2A_ENST00000523473.1_3'UTR|PPP2R2A_ENST00000315985.7_Missense_Mutation_p.W22R	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TGATATTCAGTGGTGTTTTTC	0.368													False	0	False	8:26151208	0	C	26151208	T	C	26151208	3	2	88	1	0	0	0	0	1	0	0	0	12458	1696	59	4	81	4	PPP2R2A	8	26151208	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	786946	26151208	120212814	8956	16668											
PPP2R2A	5520	broad.mit.edu	37	chr8	26227791	26227791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagtctgtgcaagtggcaaGcgaaagaaagatgaaataag	12	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26227791G>T	ENST00000380737.3	+	10	1535	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K412N	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		CAAGTGGCAAGCGAAAGAAAG	0.448													False	0	False	8:26227791	0	T	26227791	G	T	26227791	3	4	88	1	0	0	0	0	1	0	0	0	12458	962	34	3	1285	3	PPP2R2A	8	26227791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76583	26227791	120136231	8957	16669											
BNIP3L	665	broad.mit.edu	37	chr8	26265551	26265551	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagaaggagagaaggaagtCgaggctttgaagaaaagtgc	16	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26265551C>T	ENST00000380629.2	+	4	626	c.393C>T	c.(391-393)gtC>gtT	p.V131V	BNIP3L_ENST00000521254.1_3'UTR|BNIP3L_ENST00000518611.1_Silent_p.V91V|BNIP3L_ENST00000523515.1_Silent_p.V91V|BNIP3L_ENST00000520409.1_Silent_p.V91V	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like	131					apoptosis|defense response to virus|induction of apoptosis|interspecies interaction between organisms|mitochondrial protein catabolic process|negative regulation of survival gene product expression	endoplasmic reticulum|integral to membrane|mitochondrial outer membrane|nuclear envelope	lamin binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		AGAAGGAAGTCGAGGCTTTGA	0.403													False	0	False	8:26265551	0	T	26265551	C	T	26265551	2	4	88	1	0	0	0	0	0	0	0	1	1484	871	31	1		1	BNIP3L	8	26265551	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37760	26265551	120098471	8958	16670											
PNMA2	10687	broad.mit.edu	37	chr8	26365196	26365196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtcgtctccctcatgaTtccagcggccatagccatct	7	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26365196T>G	ENST00000522362.2	-	3	1970	c.1076A>C	c.(1075-1077)aAt>aCt	p.N359T		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	359					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		TCCCTCATGATTCCAGCGGCC	0.478													False	0	False	8:26365196	0	G	26365196	T	G	26365196	3	3	88	1	0	0	0	0	1	0	0	0	12223	1493	52	4	22	4	PNMA2	8	26365196	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	99645	26365196	119998826	8959	16671											
DPYSL2	1808	broad.mit.edu	37	chr8	26492332	26492332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatcgtgccatcaccatcGccaaccagaccaactgcccg	7	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26492332G>A	ENST00000311151.5	+	8	1139	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	DPYSL2_ENST00000521913.1_Missense_Mutation_p.A207T|DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000523027.1_Missense_Mutation_p.A207T	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	243					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	p.A243T(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CATCACCATCGCCAACCAGAC	0.582													False	0	False	8:26492332	0	A	26492332	G	A	26492332	3	1	88	1	0	0	0	0	1	0	0	0	4777	1087	38	1	757	1	DPYSL2	8	26492332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127136	26492332	119871690	8960	16672											
TRIM35	23087	broad.mit.edu	37	chr8	27145212	27145212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtacaggtggcagtggCgctccgcgtcatagaaagac	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27145212C>T	ENST00000305364.4	-	6	1420	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H		NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	446	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GTGGCAGTGGCGCTCCGCGTC	0.687													False	0	False	8:27145212	0	T	27145212	C	T	27145212	3	4	88	1	0	0	0	0	1	0	0	0	16592	768	27	1	148	1	TRIM35	8	27145212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	652880	27145212	119218810	8961	16673											
PTK2B	2185	broad.mit.edu	37	chr8	27315813	27315813	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtgtgatcttcctacagatCgagggcacccagaaactgct	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27315813C>T	ENST00000397501.1	+	36	3625	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	PTK2B_ENST00000544172.1_Silent_p.I939I|PTK2B_ENST00000346049.5_Silent_p.I939I|PTK2B_ENST00000420218.2_Silent_p.I897I|PTK2B_ENST00000517339.1_Silent_p.I897I|PTK2B_ENST00000338238.4_Silent_p.I897I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	939	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCCTACAGATCGAGGGCACCC	0.557													False	0	False	8:27315813	0	T	27315813	C	T	27315813	2	4	88	1	0	0	0	0	0	0	0	1	12840	874	31	1		1	PTK2B	8	27315813	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170601	27315813	119048209	8962	16674											
CHRNA2	0	broad.mit.edu	37	chr8	27320801	27320801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggggtggcagagctccaCgggtggtgggggccggttca	21	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27320801C>T	ENST00000407991.1	-	6	1767	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	CHRNA2_ENST00000240132.2_Missense_Mutation_p.V372M|CHRNA2_ENST00000520933.2_Missense_Mutation_p.V387M	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	387						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CAGAGCTCCACGGGTGGTGGG	0.682													False	0	True	8:27320801	0	T	27320801	C	T	27320801	3	4	88	1	0	0	0	0	1	0	0	0	3406	536	19	1	438	1	CHRNA2	8	27320801	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4988	27320801	119043221	8963	16675											
CHRNA2	0	broad.mit.edu	37	chr8	27327295	27327295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccacatcgatgagctgagCgatggacagtccaaagcgca	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27327295C>T	ENST00000407991.1	-	3	885	c.277G>A	c.(277-279)Gct>Act	p.A93T	CHRNA2_ENST00000240132.2_Intron|CHRNA2_ENST00000520933.2_Missense_Mutation_p.A93T	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	93						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ATGAGCTGAGCGATGGACAGT	0.632													False	0	True	8:27327295	0	T	27327295	C	T	27327295	3	4	88	1	0	0	0	0	1	0	0	0	3406	768	27	1	1332	1	CHRNA2	8	27327295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6494	27327295	119036727	8964	16676											
CLU	1191	broad.mit.edu	37	chr8	27462673	27462673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtggtaggtatcctggggCtcccgggtgaagaacctgtc	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27462673C>T	ENST00000316403.10	-	5	1002	c.597G>A	c.(595-597)gaG>gaA	p.E199E	CLU_ENST00000405140.3_Silent_p.E199E|CLU_ENST00000546343.1_Silent_p.E210E|CLU_ENST00000560366.1_Silent_p.E251E|CLU_ENST00000523500.1_Silent_p.E199E			P10909	CLUS_HUMAN	clusterin	199					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TATCCTGGGGCTCCCGGGTGA	0.607													False	0	True	8:27462673	0	T	27462673	C	T	27462673	2	4	88	1	0	0	0	0	0	0	0	1	3591	796	28	2		2	CLU	8	27462673	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135378	27462673	118901349	8965	16677											
SCARA3	51435	broad.mit.edu	37	chr8	27514340	27514340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccgaagacatctccttgAcccagtctatttatgacaag	6	12	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27514340A>G	ENST00000301904.3	+	4	288	c.268A>G	c.(268-270)Acc>Gcc	p.T90A	SCARA3_ENST00000337221.4_Missense_Mutation_p.T90A	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	90					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CATCTCCTTGACCCAGTCTAT	0.468													False	0	True	8:27514340	0	G	27514340	A	G	27514340	3	3	88	1	0	0	0	0	1	0	0	0	13959	275	10	4	282	4	SCARA3	8	27514340	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51667	27514340	118849682	8966	16678											
CCDC25	55246	broad.mit.edu	37	chr8	27605688	27605688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctcattcctctcttcacGatctctgcattctttctctg	3	14	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27605688G>A	ENST00000356537.4	-	7	550	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	CCDC25_ENST00000539095.1_Missense_Mutation_p.R85C|RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R85C	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	153										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CTCTCTTCACGATCTCTGCAT	0.403													False	0	False	8:27605688	0	A	27605688	G	A	27605688	3	1	88	1	0	0	0	0	1	0	0	0	2821	1058	37	1	181	1	CCDC25	8	27605688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91348	27605688	118758334	8967	16679											
CCDC25	55246	broad.mit.edu	37	chr8	27605727	27605727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctaggtctgggaaccGctcgactttggtcttttcta	11	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27605727G>A	ENST00000356537.4	-	7	511	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	CCDC25_ENST00000539095.1_Missense_Mutation_p.R72W|RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.R72W	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	140										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		TCTGGGAACCGCTCGACTTTG	0.393													False	0	False	8:27605727	0	A	27605727	G	A	27605727	3	1	88	1	0	0	0	0	1	0	0	0	2821	1086	38	1	220	1	CCDC25	8	27605727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	27605727	118758295	8968	16680											
ESCO2	157570	broad.mit.edu	37	chr8	27634227	27634227	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaaaaccagtctgctccaaGaagaacaacaaaaaaccaca	6	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27634227G>A	ENST00000305188.8	+	3	640	c.402G>A	c.(400-402)aaG>aaA	p.K134K	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	134					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TCTGCTCCAAGAAGAACAACA	0.338									SC Phocomelia syndrome				False	0	False	8:27634227	0	A	27634227	G	A	27634227	2	1	88	1	0	0	0	0	0	0	0	1	5281	933	33	2		2	ESCO2	8	27634227	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28500	27634227	118729795	8969	16681											
SCARA5	286133	broad.mit.edu	37	chr8	27737093	27737093	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagagcgccttaccttgcccGaatcgagctgtgcggtacac	11	14	0	1	rs143382394	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27737093G>A	ENST00000354914.3	-	8	1829	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	SCARA5_ENST00000380385.2_Silent_p.F223F	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	448	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TACCTTGCCCGAATCGAGCTG	0.612													False	0	True	8:27737093	0	A	27737093	G	A	27737093	2	1	88	1	0	0	0	0	0	0	0	1	13960	1049	37	1		1	SCARA5	8	27737093	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102866	27737093	118626929	8970	16682											
ELP3	55140	broad.mit.edu	37	chr8	27987089	27987089	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagattactgcatgaagCgacatttaagtgacatgttg	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27987089C>T	ENST00000256398.8	+	8	1065	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ELP3_ENST00000537665.1_Nonsense_Mutation_p.R111*|ELP3_ENST00000524103.1_Nonsense_Mutation_p.R158*|ELP3_ENST00000542181.1_Nonsense_Mutation_p.R101*|ELP3_ENST00000380353.4_Nonsense_Mutation_p.R138*|ELP3_ENST00000521015.1_Nonsense_Mutation_p.R216*	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	230					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CTGCATGAAGCGACATTTAAG	0.418													False	0	False	8:27987089	0	T	27987089	C	T	27987089	4	4	88	1	0	0	0	0	0	1	0	0	5113	760	27	1	718	1	ELP3	8	27987089	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249996	27987089	118376933	8971	16683											
ELP3	55140	broad.mit.edu	37	chr8	27989836	27989836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgagtcatttcacctggCcaaagattccggttttaaag	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27989836C>T	ENST00000256398.8	+	9	1198	c.821C>T	c.(820-822)gCc>gTc	p.A274V	ELP3_ENST00000537665.1_Missense_Mutation_p.A155V|ELP3_ENST00000524103.1_Missense_Mutation_p.A202V|ELP3_ENST00000542181.1_Missense_Mutation_p.A145V|ELP3_ENST00000380353.4_Missense_Mutation_p.A182V|ELP3_ENST00000521015.1_Missense_Mutation_p.A260V	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	274					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TTTCACCTGGCCAAAGATTCC	0.443													False	0	False	8:27989836	0	T	27989836	C	T	27989836	3	4	88	1	0	0	0	0	1	0	0	0	5113	739	26	2	855	2	ELP3	8	27989836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2747	27989836	118374186	8972	16684											
ZNF395	55893	broad.mit.edu	37	chr8	28217156	28217156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgggcctgtaggccagggcCtgggctccgggctccagggg	19	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28217156C>A	ENST00000344423.5	-	3	557	c.426G>T	c.(424-426)caG>caT	p.Q142H	ZNF395_ENST00000523095.1_Missense_Mutation_p.Q142H|ZNF395_ENST00000523202.1_Missense_Mutation_p.Q142H	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	142					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AGGCCAGGGCCTGGGCTCCGG	0.617													False	0	False	8:28217156	0	A	28217156	C	A	28217156	3	1	88	1	0	0	0	0	1	0	0	0	17964	680	24	3	1147	3	ZNF395	8	28217156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227320	28217156	118146866	8973	16685											
FZD3	7976	broad.mit.edu	37	chr8	28385002	28385002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcctattatattttatgCagtctgctacatgatggtat	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28385002C>T	ENST00000240093.3	+	5	1203	c.725C>T	c.(724-726)gCa>gTa	p.A242V	FZD3_ENST00000537916.1_Missense_Mutation_p.A242V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	242					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATATTTTATGCAGTCTGCTAC	0.368													False	0	False	8:28385002	0	T	28385002	C	T	28385002	3	4	88	1	0	0	0	0	1	0	0	0	6173	710	25	2	735	2	FZD3	8	28385002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167846	28385002	117979020	8974	16686											
FZD3	7976	broad.mit.edu	37	chr8	28385340	28385340	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgatgaataaaattgaaggtGacaatattagtggcgtgtgt	12	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28385340G>A	ENST00000240093.3	+	5	1541	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	FZD3_ENST00000537916.1_Missense_Mutation_p.D355N	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	355					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AATTGAAGGTGACAATATTAG	0.443													False	0	False	8:28385340	0	A	28385340	G	A	28385340	3	1	88	1	0	0	0	0	1	0	0	0	6173	1290	45	2	1073	2	FZD3	8	28385340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	338	28385340	117978682	8975	16687											
EXTL3	2137	broad.mit.edu	37	chr8	28573951	28573951	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagcattgagaacgccaaGcaggacctgctccagctcaa	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28573951G>T	ENST00000220562.4	+	3	1277	c.375G>T	c.(373-375)aaG>aaT	p.K125N	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	125						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AGAACGCCAAGCAGGACCTGC	0.567													False	0	False	8:28573951	0	T	28573951	G	T	28573951	3	4	88	1	0	0	0	0	1	0	0	0	5360	962	34	3	377	3	EXTL3	8	28573951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	188611	28573951	117790071	8976	16688											
EXTL3	2137	broad.mit.edu	37	chr8	28574109	28574109	+	Missense_Mutation	SNP	G	G	A													gaaggccactcggggctgccGgctacacaactgctttgatt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28574109G>A	ENST00000220562.4	+	3	1435	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	178						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CGGGGCTGCCGGCTACACAAC	0.597													False	0	False	8:28574109	0	A	28574109	G	A	28574109	3	1	88	1	0	0	0	0	1	0	0	0	5360	1116	39	1	535	1	EXTL3	8	28574109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158	28574109	117789913	8977	16689	202	2									
EXTL3	2137	broad.mit.edu	37	chr8	28574117	28574117	+	Missense_Mutation	SNP	A	A	G													ctcggggctgccggctacacAactgctttgattattctcgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28574117A>G	ENST00000220562.4	+	3	1443	c.541A>G	c.(541-543)Aac>Gac	p.N181D	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	181						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCGGCTACACAACTGCTTTGA	0.597													False	0	False	8:28574117	0	G	28574117	A	G	28574117	3	3	88	1	0	0	0	0	1	0	0	0	5360	130	5	4	543	4	EXTL3	8	28574117	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8	28574117	117789905	8978	16690	202	2									
EXTL3	2137	broad.mit.edu	37	chr8	28575113	28575113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctatgaggcggcaaggcCgctttctctgggagacttac	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28575113C>T	ENST00000220562.4	+	3	2439	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.R129C	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	513						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCGGCAAGGCCGCTTTCTCTG	0.562													False	0	False	8:28575113	0	T	28575113	C	T	28575113	3	4	88	1	0	0	0	0	1	0	0	0	5360	652	23	1	1539	1	EXTL3	8	28575113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	996	28575113	117788909	8979	16691											
EXTL3	2137	broad.mit.edu	37	chr8	28575713	28575713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtggcctgacattggcGtccccatcatggtaatagag	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28575713G>A	ENST00000220562.4	+	3	3039	c.2137G>A	c.(2137-2139)Gtc>Atc	p.V713I	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.V329I	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	713						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGACATTGGCGTCCCCATCAT	0.463													False	0	False	8:28575713	0	A	28575713	G	A	28575713	3	1	88	1	0	0	0	0	1	0	0	0	5360	1145	40	1	2139	1	EXTL3	8	28575713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	600	28575713	117788309	8980	16692											
KIF13B	23303	broad.mit.edu	37	chr8	28976427	28976427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgcaattcaaagaactcCtcttcttcttccccagtcaa	3	14	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28976427C>A	ENST00000524189.1	-	30	3656	c.3618G>T	c.(3616-3618)gaG>gaT	p.E1206D	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1206					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAAAGAACTCCTCTTCTTCTT	0.458													False	0	True	8:28976427	0	A	28976427	C	A	28976427	3	1	88	1	0	0	0	0	1	0	0	0	8325	680	24	3	1906	3	KIF13B	8	28976427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	400714	28976427	117387595	8981	16693											
KIF13B	23303	broad.mit.edu	37	chr8	28980978	28980978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccgcatctccagaagctgCgcttcacggtcagcatcatc	8	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28980978C>T	ENST00000524189.1	-	28	3422	c.3384G>A	c.(3382-3384)gcG>gcA	p.A1128A	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1128					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCAGAAGCTGCGCTTCACGGT	0.488													False	0	False	8:28980978	0	T	28980978	C	T	28980978	2	4	88	1	0	0	0	0	0	0	0	1	8325	755	27	1		1	KIF13B	8	28980978	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4551	28980978	117383044	8982	16694											
KIF13B	23303	broad.mit.edu	37	chr8	29003895	29003895	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggaacggcaacctcacCttcctgttggcatccaggct	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29003895C>A	ENST00000521515.1	-	18	2249	c.2187G>T	c.(2185-2187)aaG>aaT	p.K729N	KIF13B_ENST00000524189.1_Splice_Site_p.K729N			Q9NQT8	KI13B_HUMAN	kinesin family member 13B	729					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCAACCTCACCTTCCTGTTGG	0.443													False	0	False	8:29003895	0	A	29003895	C	A	29003895	3	1	88	1	0	0	0	0	1	0	0	0	8325	695	24	3	3385	3	KIF13B	8	29003895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22917	29003895	117360127	8983	16695											
KIF13B	23303	broad.mit.edu	37	chr8	29004938	29004938	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccactgtcttaagcgttgCtgagcgctgggcgagtggaa	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29004938C>A	ENST00000524189.1	-	17	2033	c.1995G>T	c.(1993-1995)caG>caT	p.Q665H	KIF13B_ENST00000521515.1_Missense_Mutation_p.Q665H	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	665					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTAAGCGTTGCTGAGCGCTGG	0.552													False	0	False	8:29004938	0	A	29004938	C	A	29004938	3	1	88	1	0	0	0	0	1	0	0	0	8325	796	28	3	3581	3	KIF13B	8	29004938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1043	29004938	117359084	8984	16696											
KIF13B	23303	broad.mit.edu	37	chr8	29033584	29033584	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaaaaaaaacaaacttaCtttgagcagccaagtgagaa	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29033584C>T	ENST00000524189.1	-	10	984		c.e10+1		KIF13B_ENST00000521515.1_Splice_Site	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B						microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACAAACTTACTTTGAGCAGC	0.413													False	0	True	8:29033584	0	T	29033584	C	T	29033584	5	4	88	1	0	0	0	0	0	0	1	0	8325	579	20	2	4658	2	KIF13B	8	29033584	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28646	29033584	117330438	8985	16697											
TMEM66	51669	broad.mit.edu	37	chr8	29923589	29923589	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggggtgagtaagccctattCcacgtgccagggtaggaggg	17	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29923589C>A	ENST00000256255.6	-	5	1166	c.909G>T	c.(907-909)tgG>tgT	p.W303C	TMEM66_ENST00000536273.1_Missense_Mutation_p.W131C|TMEM66_ENST00000545648.1_Missense_Mutation_p.W131C	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	303						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		AAGCCCTATTCCACGTGCCAG	0.483													False	0	False	8:29923589	0	A	29923589	C	A	29923589	3	1	88	1	0	0	0	0	1	0	0	0	16277	856	30	3	118	3	TMEM66	8	29923589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	890005	29923589	116440433	8986	16698											
UBXN8	7993	broad.mit.edu	37	chr8	30623764	30623764	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttatttgactggatgacgAgaattgggtaccacatatct	9	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30623764A>G	ENST00000519246.1	+	0	865							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						CTGGATGACGAGAATTGGGTA	0.438													False	0	False	8:30623764	0	G	30623764	A	G	30623764	1	3	88	0	1	0	0	0	0	0	0	0	17003	296	11	4		4	UBXN8	8	30623764	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	700175	30623764	115740258	8987	16699											
PPP2CB	5516	broad.mit.edu	37	chr8	30655229	30655229	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtaatttgtcggctttcGtgatttcctctcaatattgt	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30655229G>A	ENST00000221138.4	-	3	804	c.354C>T	c.(352-354)caC>caT	p.H118H	PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	118					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding	p.H118H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	GTCGGCTTTCGTGATTTCCTC	0.363													False	0	False	8:30655229	0	A	30655229	G	A	30655229	2	1	88	1	0	0	0	0	0	0	0	1	12455	1136	40	1		1	PPP2CB	8	30655229	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31465	30655229	115708793	8988	16700											
TEX15	56154	broad.mit.edu	37	chr8	30690823	30690823	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtcctggatgaaaggaTtcttggtgccatggagctgg	15	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30690823T>G	ENST00000256246.2	-	4	8423	c.8349A>C	c.(8347-8349)gaA>gaC	p.E2783D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2783										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GATGAAAGGATTCTTGGTGCC	0.289													False	0	False	8:30690823	0	G	30690823	T	G	30690823	3	3	88	1	0	0	0	0	1	0	0	0	15861	1490	52	4	24	4	TEX15	8	30690823	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35594	30690823	115673199	8989	16701											
TEX15	56154	broad.mit.edu	37	chr8	30695464	30695464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctaagggtaaaagtgagCcaggtagtgatctttgcatt	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30695464C>A	ENST00000256246.2	-	3	7261	c.7187G>T	c.(7186-7188)gGc>gTc	p.G2396V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2396										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAAAAGTGAGCCAGGTAGTGA	0.388													False	0	False	8:30695464	0	A	30695464	C	A	30695464	3	1	88	1	0	0	0	0	1	0	0	0	15861	739	26	3	1190	3	TEX15	8	30695464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4641	30695464	115668558	8990	16702											
TEX15	56154	broad.mit.edu	37	chr8	30700178	30700178	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccaaaggcaaacatctgttGagttatctttaagaaatgaa	7	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30700178G>A	ENST00000256246.2	-	1	6430	c.6356C>T	c.(6355-6357)tCa>tTa	p.S2119L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2119										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AACATCTGTTGAGTTATCTTT	0.368													False	0	False	8:30700178	0	A	30700178	G	A	30700178	3	1	88	1	0	0	0	0	1	0	0	0	15861	1294	45	2	2029	2	TEX15	8	30700178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4714	30700178	115663844	8991	16703											
TEX15	56154	broad.mit.edu	37	chr8	30701930	30701930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctctcttttgttaagcGgattagaaactgtgttcttc	7	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30701930G>A	ENST00000256246.2	-	1	4678	c.4604C>T	c.(4603-4605)cCg>cTg	p.P1535L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1535										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGTTAAGCGGATTAGAAAC	0.353													False	0	False	8:30701930	0	A	30701930	G	A	30701930	3	1	88	1	0	0	0	0	1	0	0	0	15861	1116	39	1	3781	1	TEX15	8	30701930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1752	30701930	115662092	8992	16704											
TEX15	56154	broad.mit.edu	37	chr8	30705470	30705470	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttttgagcaatggctaaaCttgtatgaatgttaccctca	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30705470C>A	ENST00000256246.2	-	1	1138	c.1064G>T	c.(1063-1065)aGt>aTt	p.S355I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	355										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATGGCTAAACTTGTATGAAT	0.378													False	0	True	8:30705470	0	A	30705470	C	A	30705470	3	1	88	1	0	0	0	0	1	0	0	0	15861	565	20	3	7321	3	TEX15	8	30705470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3540	30705470	115658552	8993	16705											
NRG1	3084	broad.mit.edu	37	chr8	32453476	32453476	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcaagaatgggaatgaattGaatcgaaaaaacaaaccaca	7	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32453476G>A	ENST00000341377.5	+	2	748	c.231G>A	c.(229-231)ttG>ttA	p.L77L	NRG1_ENST00000287845.5_Silent_p.L77L|NRG1_ENST00000519301.1_Silent_p.L56L|NRG1_ENST00000287842.3_Silent_p.L77L|NRG1_ENST00000338921.4_Silent_p.L77L|NRG1_ENST00000356819.4_Silent_p.L77L|NRG1_ENST00000405005.3_Silent_p.L77L|NRG1_ENST00000523079.1_Silent_p.L77L|NRG1_ENST00000521670.1_Silent_p.L77L|NRG1_ENST00000520407.1_Silent_p.L292L	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	77	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGAATGAATTGAATCGAAAAA	0.393													False	0	True	8:32453476	0	A	32453476	G	A	32453476	2	1	88	1	0	0	0	0	0	0	0	1	10715	1291	45	2		2	NRG1	8	32453476	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1748006	32453476	113910546	8994	16706											
NRG1	3084	broad.mit.edu	37	chr8	32600219	32600219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgagtttactggtgatcGctgccaaaactacgtaatgg	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32600219G>A	ENST00000341377.5	+	8	1244	c.727G>A	c.(727-729)Gct>Act	p.A243T	NRG1_ENST00000287845.5_Missense_Mutation_p.R186H|NRG1_ENST00000519301.1_Missense_Mutation_p.R165H|NRG1_ENST00000539990.1_Missense_Mutation_p.R66H|NRG1_ENST00000287842.3_Missense_Mutation_p.R220H|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.R275H|NRG1_ENST00000356819.4_Missense_Mutation_p.R220H|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000523079.1_Missense_Mutation_p.R220H|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000520407.1_Missense_Mutation_p.R401H	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	632					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACTGGTGATCGCTGCCAAAAC	0.428													False	0	False	8:32600219	0	A	32600219	G	A	32600219	3	1	88	1	0	0	0	0	1	0	0	0	10715	1087	38	1	2227	1	NRG1	8	32600219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146743	32600219	113763803	8995	16707											
NRG1	3084	broad.mit.edu	37	chr8	32621451	32621451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttctcgtgacaccaccaaGgctgcgggagaagaagtttg	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32621451G>T	ENST00000338921.4	+	13	1995	c.1478G>T	c.(1477-1479)aGg>aTg	p.R493M	NRG1_ENST00000287845.5_Missense_Mutation_p.R456M|NRG1_ENST00000519301.1_Missense_Mutation_p.R435M|NRG1_ENST00000539990.1_Missense_Mutation_p.R328M|NRG1_ENST00000287842.3_Missense_Mutation_p.R482M|NRG1_ENST00000356819.4_Missense_Mutation_p.R490M|NRG1_ENST00000405005.3_Missense_Mutation_p.R485M|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000521670.1_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	485					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACACCACCAAGGCTGCGGGAG	0.577													False	0	False	8:32621451	0	T	32621451	G	T	32621451	3	4	88	1	0	0	0	0	1	0	0	0	10715	1000	35	3	3225	3	NRG1	8	32621451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21232	32621451	113742571	8996	16708											
NRG1	3084	broad.mit.edu	37	chr8	32621526	32621526	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaccccgcgcatgacagtaAcagcctccctgctagcccct	7	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32621526A>G	ENST00000338921.4	+	13	2070	c.1553A>G	c.(1552-1554)aAc>aGc	p.N518S	NRG1_ENST00000287845.5_Missense_Mutation_p.N481S|NRG1_ENST00000519301.1_Missense_Mutation_p.N460S|NRG1_ENST00000539990.1_Missense_Mutation_p.N353S|NRG1_ENST00000287842.3_Missense_Mutation_p.N507S|NRG1_ENST00000356819.4_Missense_Mutation_p.N515S|NRG1_ENST00000405005.3_Missense_Mutation_p.N510S|NRG1_ENST00000341377.5_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	510					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CATGACAGTAACAGCCTCCCT	0.547													False	0	False	8:32621526	0	G	32621526	A	G	32621526	3	3	88	1	0	0	0	0	1	0	0	0	10715	43	2	4	3300	4	NRG1	8	32621526	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75	32621526	113742496	8997	16709											
MAK16	84549	broad.mit.edu	37	chr8	33356000	33356000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatcaggatggtaaatcCtccagtgaggaggaggaaga	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33356000C>T	ENST00000360128.6	+	10	1213	c.756C>T	c.(754-756)tcC>tcT	p.S252S	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	252						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						ATGGTAAATCCTCCAGTGAGG	0.448													False	0	False	8:33356000	0	T	33356000	C	T	33356000	2	4	88	1	0	0	0	0	0	0	0	1	9265	668	24	2		2	MAK16	8	33356000	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	734474	33356000	113008022	8998	16710											
RNF122	79845	broad.mit.edu	37	chr8	33406322	33406322	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcgtggcctctgagggActagcaatgggcttgttaca	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33406322A>G	ENST00000256257.1	-	6	818	c.417T>C	c.(415-417)agT>agC	p.S139S		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	139						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CCTCTGAGGGACTAGCAATGG	0.517													False	0	True	8:33406322	0	G	33406322	A	G	33406322	2	3	88	1	0	0	0	0	0	0	0	1	13511	272	10	4		4	RNF122	8	33406322	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50322	33406322	112957700	8999	16711											
DUSP26	78986	broad.mit.edu	37	chr8	33454996	33454996	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgggagaagcgggccataAaagtcatagaagcccaaagc	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33454996A>C	ENST00000256261.4	-	2	555	c.38T>G	c.(37-39)tTt>tGt	p.F13C	DUSP26_ENST00000523956.1_Missense_Mutation_p.F13C	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	13						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GCGGGCCATAAAAGTCATAGA	0.542													False	0	True	8:33454996	0	C	33454996	A	C	33454996	3	2	88	1	0	0	0	0	1	0	0	0	4853	14	1	4	609	4	DUSP26	8	33454996	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48674	33454996	112909026	9000	16712											
UNC5D	137970	broad.mit.edu	37	chr8	35406991	35406991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagtgggtccatcagaaCgagcacgtctctgaagagac	14	10	2	3	rs77010935	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35406991C>T	ENST00000287272.2	+	2	305	c.285C>T	c.(283-285)aaC>aaT	p.N95N	UNC5D_ENST00000416672.1_Silent_p.N95N|UNC5D_ENST00000420357.1_Silent_p.N95N|UNC5D_ENST00000404895.2_Silent_p.N95N|UNC5D_ENST00000453357.2_Silent_p.N90N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	95	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCATCAGAACGAGCACGTCT	0.502													False	0	False	8:35406991	0	T	35406991	C	T	35406991	2	4	88	1	0	0	0	0	0	0	0	1	17079	535	19	1		1	UNC5D	8	35406991	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1951995	35406991	110957031	9001	16713											
UNC5D	137970	broad.mit.edu	37	chr8	35425705	35425705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actattggtgccagtgtgtgGcgtggagccacctgggtacc	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35425705G>A	ENST00000287272.2	+	3	432	c.412G>A	c.(412-414)Gcg>Acg	p.A138T	UNC5D_ENST00000416672.1_Missense_Mutation_p.A138T|UNC5D_ENST00000420357.1_Missense_Mutation_p.A138T|UNC5D_ENST00000404895.2_Missense_Mutation_p.A138T|UNC5D_ENST00000453357.2_Missense_Mutation_p.A133T			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	138	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCAGTGTGTGGCGTGGAGCCA	0.542													False	0	True	8:35425705	0	A	35425705	G	A	35425705	3	1	88	1	0	0	0	0	1	0	0	0	17079	1203	42	2	422	2	UNC5D	8	35425705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18714	35425705	110938317	9002	16714											
UNC5D	137970	broad.mit.edu	37	chr8	35583857	35583857	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtttccctgggagtgtctgaGagagctgagtaccacggcaa	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35583857G>T	ENST00000287272.2	+	9	1304	c.1284G>T	c.(1282-1284)gaG>gaT	p.E428D	UNC5D_ENST00000449677.1_Missense_Mutation_p.E73D|UNC5D_ENST00000416672.1_Missense_Mutation_p.E502D|UNC5D_ENST00000420357.1_Missense_Mutation_p.E430D|UNC5D_ENST00000404895.2_Missense_Mutation_p.E497D|UNC5D_ENST00000453357.2_Missense_Mutation_p.E492D			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	497					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAGTGTCTGAGAGAGCTGAGT	0.473													False	0	True	8:35583857	0	T	35583857	G	T	35583857	3	4	88	1	0	0	0	0	1	0	0	0	17079	933	33	3	1529	3	UNC5D	8	35583857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158152	35583857	110780165	9003	16715											
KCNU1	157855	broad.mit.edu	37	chr8	36644856	36644856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggtaccatcgctaggagCcatgtaagaagcctccactt	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36644856C>T	ENST00000399881.3	+	2	265	c.228C>T	c.(226-228)agC>agT	p.S76S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	76						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCGCTAGGAGCCATGTAAGAA	0.423													False	0	False	8:36644856	0	T	36644856	C	T	36644856	2	4	88	1	0	0	0	0	0	0	0	1	8143	738	26	2		2	KCNU1	8	36644856	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1060999	36644856	109719166	9004	16716											
KCNU1	157855	broad.mit.edu	37	chr8	36694367	36694367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggagacaacatcatctgCtttgctgaattaaaacttgg	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36694367C>T	ENST00000399881.3	+	14	1459	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	474	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACATCATCTGCTTTGCTGAAT	0.428													False	0	True	8:36694367	0	T	36694367	C	T	36694367	2	4	88	1	0	0	0	0	0	0	0	1	8143	805	28	2		2	KCNU1	8	36694367	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49511	36694367	109669655	9005	16717											
KCNU1	157855	broad.mit.edu	37	chr8	36793196	36793196	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagacaacagagacacatTcagacacaaattgtcctccc	5	14	1	3	rs138865963	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36793196T>G	ENST00000399881.3	+	27	3245	c.3208T>G	c.(3208-3210)Tca>Gca	p.S1070A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1070						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGAGACACATTCAGACACAAA	0.383													False	0	False	8:36793196	0	G	36793196	T	G	36793196	3	3	88	1	0	0	0	0	1	0	0	0	8143	1783	62	4	3314	4	KCNU1	8	36793196	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	98829	36793196	109570826	9006	16718											
GPR124	25960	broad.mit.edu	37	chr8	37687516	37687516	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctgggcagcctccaggaGgcccagctctgctgcggtga	15	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37687516G>T	ENST00000315215.7	+	6	1065	c.702G>T	c.(700-702)gaG>gaT	p.E234D	GPR124_ENST00000412232.2_Missense_Mutation_p.E234D			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	234	LRRCT.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCTCCAGGAGGCCCAGCTCT	0.667													False	0	False	8:37687516	0	T	37687516	G	T	37687516	3	4	88	1	0	0	0	0	1	0	0	0	6684	991	35	3	703	3	GPR124	8	37687516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	894320	37687516	108676506	9007	16719											
GPR124	25960	broad.mit.edu	37	chr8	37691268	37691268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgtgtacacagccgaGgccgctagcttttcagacat	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37691268G>A	ENST00000315215.7	+	10	1722	c.1359G>A	c.(1357-1359)gaG>gaA	p.E453E	GPR124_ENST00000412232.2_Silent_p.E453E			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	453					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACACAGCCGAGGCCGCTAGCT	0.527													False	0	False	8:37691268	0	A	37691268	G	A	37691268	2	1	88	1	0	0	0	0	0	0	0	1	6684	991	35	2		2	GPR124	8	37691268	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3752	37691268	108672754	9008	16720											
BRF2	55290	broad.mit.edu	37	chr8	37702272	37702272	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacctccccttctccttgCccctgtccccaccccggtgg	6	24	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37702272C>T	ENST00000220659.6	-	4	1116	c.996G>A	c.(994-996)ggG>ggA	p.G332G	GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	332					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CTTCTCCTTGCCCCTGTCCCC	0.617													False	0	True	8:37702272	0	T	37702272	C	T	37702272	2	4	88	1	0	0	0	0	0	0	0	1	1518	726	26	2		2	BRF2	8	37702272	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11004	37702272	108661750	9009	16721											
BRF2	55290	broad.mit.edu	37	chr8	37702377	37702377	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtgctggagaaggtcaccGatgtgcttcaccacagaccg	13	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37702377G>A	ENST00000220659.6	-	4	1011	c.891C>T	c.(889-891)atC>atT	p.I297I	GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	297					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			GAAGGTCACCGATGTGCTTCA	0.627													False	0	False	8:37702377	0	A	37702377	G	A	37702377	2	1	88	1	0	0	0	0	0	0	0	1	1518	1048	37	1		1	BRF2	8	37702377	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105	37702377	108661645	9010	16722											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732351	37732351	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgtcatcagagacagcaaaGaggacctcctgctctctggc	10	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37732351G>T	ENST00000330843.4	-	3	1316	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.S287Y|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S435Y|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.S287Y	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	435					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGACAGCAAAGAGGACCTCCT	0.562													False	0	True	8:37732351	0	T	37732351	G	T	37732351	3	4	88	1	0	0	0	0	1	0	0	0	12972	942	33	3	2563	3	RAB11FIP1	8	37732351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29974	37732351	108631671	9011	16723											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732467	37732467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggggcaggtcggtaggaCggcagggtcatagacttcaa	17	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37732467C>T	ENST00000330843.4	-	3	1200	c.1188G>A	c.(1186-1188)ccG>ccA	p.P396P	RAB11FIP1_ENST00000522727.1_Silent_p.P248P|RAB11FIP1_ENST00000287263.4_Silent_p.P396P|RAB11FIP1_ENST00000524118.1_Silent_p.P248P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	396					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GTCGGTAGGACGGCAGGGTCA	0.577													False	0	False	8:37732467	0	T	37732467	C	T	37732467	2	4	88	1	0	0	0	0	0	0	0	1	12972	523	19	1		1	RAB11FIP1	8	37732467	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116	37732467	108631555	9012	16724											
GOT1L1	137362	broad.mit.edu	37	chr8	37794814	37794814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctccaccacattgaggagtAtgtcggggtccatgcatagc	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37794814A>G	ENST00000307599.4	-	4	599	c.500T>C	c.(499-501)aTa>aCa	p.I167T		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	167					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATTGAGGAGTATGTCGGGGTC	0.527													False	0	False	8:37794814	0	G	37794814	A	G	37794814	3	3	88	1	0	0	0	0	1	0	0	0	6625	449	16	4	634	4	GOT1L1	8	37794814	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	62347	37794814	108569208	9013	16725											
STAR	6770	broad.mit.edu	37	chr8	38002748	38002748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgcccttcaccttgaggtCgatgctgagtagccacgtaa	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38002748C>T	ENST00000276449.4	-	6	1182	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	246	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ACCTTGAGGTCGATGCTGAGT	0.557													False	0	False	8:38002748	0	T	38002748	C	T	38002748	3	4	88	1	0	0	0	0	1	0	0	0	15336	884	31	1	129	1	STAR	8	38002748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207934	38002748	108361274	9014	16726											
STAR	6770	broad.mit.edu	37	chr8	38006170	38006170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacttaccgagtagagagCtccgccgccgaacctggtta	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38006170C>T	ENST00000276449.4	-	2	613	c.167G>A	c.(166-168)aGc>aAc	p.S56N		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	56					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GAGTAGAGAGCTCCGCCGCCG	0.642													False	0	True	8:38006170	0	T	38006170	C	T	38006170	3	4	88	1	0	0	0	0	1	0	0	0	15336	797	28	2	714	2	STAR	8	38006170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3422	38006170	108357852	9015	16727											
STAR	6770	broad.mit.edu	37	chr8	38006257	38006257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggctgatggccatcacaGcctgttgcctcagccctgca	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38006257G>A	ENST00000276449.4	-	2	526	c.80C>T	c.(79-81)gCt>gTt	p.A27V		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	27					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GGCCATCACAGCCTGTTGCCT	0.602													False	0	False	8:38006257	0	A	38006257	G	A	38006257	3	1	88	1	0	0	0	0	1	0	0	0	15336	971	34	2	801	2	STAR	8	38006257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87	38006257	108357765	9016	16728											
DDHD2	23259	broad.mit.edu	37	chr8	38103326	38103326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccaatgacacaattctGgatgtcttcttctacaatag	5	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38103326G>A	ENST00000397166.2	+	8	1440	c.915G>A	c.(913-915)ctG>ctA	p.L305L	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Silent_p.L305L	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	305					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			ACACAATTCTGGATGTCTTCT	0.423													False	0	False	8:38103326	0	A	38103326	G	A	38103326	2	1	88	1	0	0	0	0	0	0	0	1	4352	1335	47	2		2	DDHD2	8	38103326	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97069	38103326	108260696	9017	16729											
DDHD2	23259	broad.mit.edu	37	chr8	38105252	38105252	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	attcgctaaatattgtaatgGatcaaggagatacacctaca	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38105252G>T	ENST00000397166.2	+	10	1672	c.1147G>T	c.(1147-1149)Gat>Tat	p.D383Y	DDHD2_ENST00000517385.1_Missense_Mutation_p.D2Y|DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.D383Y	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	383					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TATTGTAATGGATCAAGGAGA	0.299													False	0	False	8:38105252	0	T	38105252	G	T	38105252	3	4	88	1	0	0	0	0	1	0	0	0	4352	1174	41	3	1243	3	DDHD2	8	38105252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1926	38105252	108258770	9018	16730											
PPAPDC1B	84513	broad.mit.edu	37	chr8	38123804	38123804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgccaggtagaaggaCgcaaaggccagaccagcaaa	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38123804C>T	ENST00000529359.1	-	5	564	c.366G>A	c.(364-366)gcG>gcA	p.A122A	PPAPDC1B_ENST00000422581.2_Silent_p.A163A|PPAPDC1B_ENST00000531823.1_Silent_p.A31A|PPAPDC1B_ENST00000424479.2_Silent_p.A163A			Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	163					phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			GGTAGAAGGACGCAAAGGCCA	0.473													False	0	False	8:38123804	0	T	38123804	C	T	38123804	2	4	88	1	0	0	0	0	0	0	0	1	12363	523	19	1		1	PPAPDC1B	8	38123804	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18552	38123804	108240218	9019	16731											
C8orf86	389649	broad.mit.edu	37	chr8	38369971	38369971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcttgtcccaccccagGgtttctaattcaggagttct	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38369971G>A	ENST00000358138.1	-	3	630	c.606C>T	c.(604-606)acC>acT	p.T202T	C8orf86_ENST00000437935.2_3'UTR	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	202										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						cccaccccagggtttctaatt	0.527													False	0	True	8:38369971	0	A	38369971	G	A	38369971	2	1	88	1	0	0	0	0	0	0	0	1	2462	1219	43	2		2	C8orf86	8	38369971	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246167	38369971	107994051	9020	16732											
TACC1	6867	broad.mit.edu	37	chr8	38677288	38677288	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcagctcatggctgtgtaActgcagtctcaggcaaggct	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38677288A>G	ENST00000379931.3	+	3	905	c.526A>G	c.(526-528)Act>Gct	p.T176A	TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Missense_Mutation_p.T140A|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.T131A|TACC1_ENST00000443286.2_Missense_Mutation_p.T192A|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000317827.4_Missense_Mutation_p.T176A|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000519416.1_5'UTR			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	176	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGGCTGTGTAACTGCAGTCTC	0.557													False	0	False	8:38677288	0	G	38677288	A	G	38677288	3	3	88	1	0	0	0	0	1	0	0	0	15583	43	2	4	536	4	TACC1	8	38677288	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	307317	38677288	107686734	9021	16733											
TACC1	6867	broad.mit.edu	37	chr8	38677324	38677324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctctgccttccagcccgCcagacgccctccaggacgag	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38677324C>T	ENST00000379931.3	+	3	941	c.562C>T	c.(562-564)Cca>Tca	p.P188S	TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Missense_Mutation_p.P152S|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.P143S|TACC1_ENST00000443286.2_Missense_Mutation_p.P204S|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000317827.4_Missense_Mutation_p.P188S|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000519416.1_5'UTR			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	188	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TTCCAGCCCGCCAGACGCCCT	0.582													False	0	False	8:38677324	0	T	38677324	C	T	38677324	3	4	88	1	0	0	0	0	1	0	0	0	15583	739	26	2	572	2	TACC1	8	38677324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36	38677324	107686698	9022	16734											
TACC1	6867	broad.mit.edu	37	chr8	38678031	38678031	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgacccagataactttgaCgaatccatggatccctttaa	6	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38678031C>T	ENST00000379931.3	+	3	1648	c.1269C>T	c.(1267-1269)gaC>gaT	p.D423D	TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Silent_p.D387D|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Silent_p.D228D|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Silent_p.D378D|TACC1_ENST00000443286.2_Silent_p.D439D|TACC1_ENST00000520615.1_Silent_p.D228D|TACC1_ENST00000317827.4_Silent_p.D423D|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000519416.1_Silent_p.D228D			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	423	Interaction with YEATS4.|SPAZ 2.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ATAACTTTGACGAATCCATGG	0.473													False	0	False	8:38678031	0	T	38678031	C	T	38678031	2	4	88	1	0	0	0	0	0	0	0	1	15583	535	19	1		1	TACC1	8	38678031	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	707	38678031	107685991	9023	16735											
ADAM9	8754	broad.mit.edu	37	chr8	38940233	38940233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttcagaaaaagtgtcatgGacatggggtaggtaatgttt	13	3	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38940233G>A	ENST00000487273.2	+	17	2033	c.1955G>A	c.(1954-1956)gGa>gAa	p.G652E	ADAM9_ENST00000484143.1_3'UTR	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	652	EGF-like.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AAGTGTCATGGACATGGGGTA	0.358													False	0	False	8:38940233	0	A	38940233	G	A	38940233	3	1	88	1	0	0	0	0	1	0	0	0	253	1174	41	2	2021	2	ADAM9	8	38940233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262202	38940233	107423789	9024	16736											
ADAM32	203102	broad.mit.edu	37	chr8	39111964	39111964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaaacaagtgccattgttCgccaggctataagcctccaa	8	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39111964C>T	ENST00000379907.4	+	18	2061	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	ADAM32_ENST00000437682.2_Missense_Mutation_p.S546L|ADAM32_ENST00000519315.1_Missense_Mutation_p.S539L	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	645	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGCCATTGTTCGCCAGGCTAT	0.363													False	0	False	8:39111964	0	T	39111964	C	T	39111964	3	4	88	1	0	0	0	0	1	0	0	0	249	893	31	1	2004	1	ADAM32	8	39111964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171731	39111964	107252058	9025	16737											
ADAM18	8749	broad.mit.edu	37	chr8	39534975	39534975	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaggtgctccatttgcctgTtttaaagaagttaattctct	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39534975T>G	ENST00000265707.5	+	15	1596	c.1551T>G	c.(1549-1551)tgT>tgG	p.C517W	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.C493W	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	517	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTTGCCTGTTTTAAAGAAG	0.328													False	0	True	8:39534975	0	G	39534975	T	G	39534975	3	3	88	1	0	0	0	0	1	0	0	0	239	1731	60	4	1609	4	ADAM18	8	39534975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	423011	39534975	106829047	9026	16738											
ADAM18	8749	broad.mit.edu	37	chr8	39581413	39581413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcatgtaacagagagaatGcagagtataatcggtaaata	9	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39581413G>A	ENST00000265707.5	+	19	2209	c.2164G>A	c.(2164-2166)Gca>Aca	p.A722T	ADAM18_ENST00000541111.1_Missense_Mutation_p.A136T|ADAM18_ENST00000379866.1_Missense_Mutation_p.A698T|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	722					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAGAGAGAATGCAGAGTATAA	0.279													False	0	False	8:39581413	0	A	39581413	G	A	39581413	3	1	88	1	0	0	0	0	1	0	0	0	239	1319	46	2	2238	2	ADAM18	8	39581413	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46438	39581413	106782609	9027	16739											
ADAM2	2515	broad.mit.edu	37	chr8	39606846	39606846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccagggagtctggctgGtatagctacaggtggaaaat	13	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39606846G>A	ENST00000265708.4	-	18	2102	c.1999C>T	c.(1999-2001)Cca>Tca	p.P667S	ADAM2_ENST00000379853.2_Missense_Mutation_p.P511S|ADAM2_ENST00000521880.1_Missense_Mutation_p.P604S|ADAM2_ENST00000347580.4_Missense_Mutation_p.P648S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	667					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGTCTGGCTGGTATAGCTACA	0.333													False	0	True	8:39606846	0	A	39606846	G	A	39606846	3	1	88	1	0	0	0	0	1	0	0	0	241	1261	44	2	220	2	ADAM2	8	39606846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25433	39606846	106757176	9028	16740											
IDO1	3620	broad.mit.edu	37	chr8	39780089	39780089	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggaacatggacgttttgttCtcatttcgtgatggagactg	12	6	1	2	rs115833371	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39780089C>T	ENST00000518237.1	+	6	1095	c.456C>T	c.(454-456)ttC>ttT	p.F152F	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Silent_p.F152F	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	152					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	ACGTTTTGTTCTCATTTCGTG	0.373													False	0	False	8:39780089	0	T	39780089	C	T	39780089	2	4	88	1	0	0	0	0	0	0	0	1	7551	912	32	2		2	IDO1	8	39780089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	173243	39780089	106583933	9029	16741											
IDO2	169355	broad.mit.edu	37	chr8	39872830	39872830	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggccttcatagaagacatCcactcagcaccttccctgag	7	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39872830C>T	ENST00000502986.2	+	11	1214	c.972C>T	c.(970-972)atC>atT	p.I324I	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Silent_p.I311I	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	311					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TAGAAGACATCCACTCAGCAC	0.498													False	0	False	8:39872830	0	T	39872830	C	T	39872830	2	4	88	1	0	0	0	0	0	0	0	1	7552	845	30	2		2	IDO2	8	39872830	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92741	39872830	106491192	9030	16742											
IDO2	169355	broad.mit.edu	37	chr8	39873093	39873093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtcagggataagacctTggagtcaatccttcacccac	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39873093T>C	ENST00000502986.2	+	11	1477	c.1235T>C	c.(1234-1236)tTg>tCg	p.L412S	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.L399S	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	399					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GATAAGACCTTGGAGTCAATC	0.567													False	0	False	8:39873093	0	C	39873093	T	C	39873093	3	2	88	1	0	0	0	0	1	0	0	0	7552	1821	63	4	1277	4	IDO2	8	39873093	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	263	39873093	106490929	9031	16743											
SFRP1	6422	broad.mit.edu	37	chr8	41122786	41122786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcccacttgtggatggccGtcagcaagtactggctcttc	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41122786G>A	ENST00000220772.3	-	3	1182	c.845C>T	c.(844-846)aCg>aTg	p.T282M	SFRP1_ENST00000379845.3_Missense_Mutation_p.T146M	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	282	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GTGGATGGCCGTCAGCAAGTA	0.498													False	0	False	8:41122786	0	A	41122786	G	A	41122786	3	1	88	1	0	0	0	0	1	0	0	0	14242	1145	40	1	103	1	SFRP1	8	41122786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1249693	41122786	105241236	9032	16744											
SFRP1	6422	broad.mit.edu	37	chr8	41161013	41161013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagagatgttcaatgatggCctcagatttcaactcgttgt	9	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41161013C>A	ENST00000220772.3	-	2	926	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S	SFRP1_ENST00000379845.3_Missense_Mutation_p.A61S	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	197	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCAATGATGGCCTCAGATTTC	0.522													False	0	False	8:41161013	0	A	41161013	C	A	41161013	3	1	88	1	0	0	0	0	1	0	0	0	14242	739	26	3	363	3	SFRP1	8	41161013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38227	41161013	105203009	9033	16745											
AGPAT6	137964	broad.mit.edu	37	chr8	41467268	41467268	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggacaacactccagagttCgagctctctgacattttcta	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41467268C>T	ENST00000396987.3	+	4	1257	c.330C>T	c.(328-330)ttC>ttT	p.F110F	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	110					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CTCCAGAGTTCGAGCTCTCTG	0.448													False	0	False	8:41467268	0	T	41467268	C	T	41467268	2	4	88	1	0	0	0	0	0	0	0	1	391	883	31	1		1	AGPAT6	8	41467268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	306255	41467268	104896754	9034	16746											
ANK1	286	broad.mit.edu	37	chr8	41554206	41554206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcaccctgtatgcaccGggctggccaccgggctgatg	12	16	1	1	rs146518198		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41554206G>A	ENST00000396942.1	-	25	2806	c.2723C>T	c.(2722-2724)cCg>cTg	p.P908L	ANK1_ENST00000289734.7_Missense_Mutation_p.P908L|ANK1_ENST00000352337.4_Missense_Mutation_p.P908L|ANK1_ENST00000265709.8_Missense_Mutation_p.P949L|ANK1_ENST00000396945.1_Missense_Mutation_p.P908L|ANK1_ENST00000347528.4_Missense_Mutation_p.P908L|ANK1_ENST00000379758.2_Missense_Mutation_p.P908L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	908					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	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)			TGTATGCACCGGGCTGGCCAC	0.622													False	0	True	8:41554206	0	A	41554206	G	A	41554206	3	1	88	1	0	0	0	0	1	0	0	0	620	1116	39	1	3320	1	ANK1	8	41554206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86938	41554206	104809816	9035	16747											
ANK1	286	broad.mit.edu	37	chr8	41561607	41561607	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttttcagaagcagagtcacGatgtctgtgtgtccctgctg	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41561607G>A	ENST00000396942.1	-	20	2330	c.2247C>T	c.(2245-2247)atC>atT	p.I749I	ANK1_ENST00000289734.7_Silent_p.I749I|ANK1_ENST00000352337.4_Silent_p.I749I|ANK1_ENST00000265709.8_Silent_p.I782I|ANK1_ENST00000396945.1_Silent_p.I749I|ANK1_ENST00000347528.4_Silent_p.I749I|ANK1_ENST00000379758.2_Silent_p.I749I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	749	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	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)			GCAGAGTCACGATGTCTGTGT	0.552													False	0	False	8:41561607	0	A	41561607	G	A	41561607	2	1	88	1	0	0	0	0	0	0	0	1	620	1048	37	1		1	ANK1	8	41561607	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7401	41561607	104802415	9036	16748											
ANK1	286	broad.mit.edu	37	chr8	41571725	41571725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcagcagcttgacgatGtccaggttgttgtgatggac	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41571725G>A	ENST00000396942.1	-	16	1832	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	ANK1_ENST00000289734.7_Silent_p.D583D|ANK1_ENST00000352337.4_Silent_p.D583D|ANK1_ENST00000265709.8_Silent_p.D616D|ANK1_ENST00000396945.1_Silent_p.D583D|ANK1_ENST00000347528.4_Silent_p.D583D|ANK1_ENST00000379758.2_Silent_p.D583D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	583	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	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)			GCTTGACGATGTCCAGGTTGT	0.662													False	0	False	8:41571725	0	A	41571725	G	A	41571725	2	1	88	1	0	0	0	0	0	0	0	1	620	1368	48	2		2	ANK1	8	41571725	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10118	41571725	104792297	9037	16749											
AP3M2	10947	broad.mit.edu	37	chr8	42012394	42012394	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttaagtgtttaccgccacaaGatcttttttgtggccgtgat	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42012394G>T	ENST00000518421.1	+	3	480	c.189G>T	c.(187-189)aaG>aaT	p.K63N	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000396926.3_Missense_Mutation_p.K63N|AP3M2_ENST00000517922.1_Missense_Mutation_p.K63N|AP3M2_ENST00000174653.3_Missense_Mutation_p.K63N	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	63					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACCGCCACAAGATCTTTTTTG	0.488													False	0	False	8:42012394	0	T	42012394	G	T	42012394	3	4	88	1	0	0	0	0	1	0	0	0	750	933	33	3	191	3	AP3M2	8	42012394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	440669	42012394	104351628	9038	16750											
AP3M2	10947	broad.mit.edu	37	chr8	42019805	42019805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaattgcctcaggaagcaCgaatgtgggtgaccagcttc	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42019805C>T	ENST00000518421.1	+	5	743	c.452C>T	c.(451-453)aCg>aTg	p.T151M	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000396926.3_Missense_Mutation_p.T151M|AP3M2_ENST00000517922.1_Missense_Mutation_p.T151M|AP3M2_ENST00000174653.3_Missense_Mutation_p.T151M	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	151					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TCAGGAAGCACGAATGTGGGT	0.453													False	0	False	8:42019805	0	T	42019805	C	T	42019805	3	4	88	1	0	0	0	0	1	0	0	0	750	536	19	1	462	1	AP3M2	8	42019805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7411	42019805	104344217	9039	16751											
AP3M2	10947	broad.mit.edu	37	chr8	42024803	42024803	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaccattgagggagtgActgtcaccagccagatgccc	13	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42024803A>G	ENST00000518421.1	+	8	1216	c.925A>G	c.(925-927)Act>Gct	p.T309A	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000396926.3_Missense_Mutation_p.T309A|AP3M2_ENST00000174653.3_Missense_Mutation_p.T309A	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	309	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TGAGGGAGTGACTGTCACCAG	0.527													False	0	False	8:42024803	0	G	42024803	A	G	42024803	3	3	88	1	0	0	0	0	1	0	0	0	750	275	10	4	947	4	AP3M2	8	42024803	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4998	42024803	104339219	9040	16752											
PLAT	5327	broad.mit.edu	37	chr8	42037456	42037456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacttacaggcctcatgctTgccgtagccggagagctcac	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42037456T>C	ENST00000220809.4	-	12	1607	c.1351A>G	c.(1351-1353)Aag>Gag	p.K451E	PLAT_ENST00000519510.1_Missense_Mutation_p.K388E|PLAT_ENST00000270189.6_Silent_p.A281A|PLAT_ENST00000352041.3_Missense_Mutation_p.K405E|PLAT_ENST00000429710.2_Missense_Mutation_p.K325E|PLAT_ENST00000429089.2_Missense_Mutation_p.K451E|PLAT_ENST00000524009.1_Missense_Mutation_p.K362E	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	451	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCCTCATGCTTGCCGTAGCCG	0.662													False	0	False	8:42037456	0	C	42037456	T	C	42037456	3	2	88	1	0	0	0	0	1	0	0	0	12090	1821	63	4	349	4	PLAT	8	42037456	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12653	42037456	104326566	9041	16753											
PLAT	5327	broad.mit.edu	37	chr8	42039493	42039493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtactcccacgtcagcctgCggttcttcagcacgtggcac	10	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42039493C>T	ENST00000220809.4	-	9	1107	c.851G>A	c.(850-852)cGc>cAc	p.R284H	PLAT_ENST00000519510.1_Missense_Mutation_p.R221H|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.R238H|PLAT_ENST00000429710.2_Missense_Mutation_p.R158H|PLAT_ENST00000429089.2_Missense_Mutation_p.R284H|PLAT_ENST00000524009.1_Missense_Mutation_p.R195H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	284	Kringle 2.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGTCAGCCTGCGGTTCTTCAG	0.522													False	0	False	8:42039493	0	T	42039493	C	T	42039493	3	4	88	1	0	0	0	0	1	0	0	0	12090	768	27	1	861	1	PLAT	8	42039493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2037	42039493	104324529	9042	16754											
IKBKB	3551	broad.mit.edu	37	chr8	42174349	42174349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcccagaggaggaccAggagctgctgcaggaagcgg	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42174349A>G	ENST00000520810.1	+	11	1238	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	IKBKB_ENST00000520835.1_Missense_Mutation_p.Q349R|IKBKB_ENST00000416505.2_Missense_Mutation_p.Q292R|IKBKB_ENST00000379708.3_Missense_Mutation_p.Q128R|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	351					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GAGGAGGACCAGGAGCTGCTG	0.592													False	0	False	8:42174349	0	G	42174349	A	G	42174349	3	3	88	1	0	0	0	0	1	0	0	0	7661	188	7	4	1090	4	IKBKB	8	42174349	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	134856	42174349	104189673	9043	16755											
IKBKB	3551	broad.mit.edu	37	chr8	42178258	42178258	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttttccattaggagaaCgaagtgaaactcctggtaga	10	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42178258C>T	ENST00000520810.1	+	16	1770	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	IKBKB_ENST00000520835.1_Silent_p.N526N|IKBKB_ENST00000416505.2_Silent_p.N469N|IKBKB_ENST00000379708.3_Silent_p.N305N|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	528					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ATTAGGAGAACGAAGTGAAAC	0.567													False	0	False	8:42178258	0	T	42178258	C	T	42178258	2	4	88	1	0	0	0	0	0	0	0	1	7661	535	19	1		1	IKBKB	8	42178258	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3909	42178258	104185764	9044	16756											
IKBKB	3551	broad.mit.edu	37	chr8	42183581	42183581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtctcagccctccacgGcctccaacagcttacctgag	8	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42183581G>A	ENST00000520810.1	+	20	2266	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	IKBKB_ENST00000520835.1_Missense_Mutation_p.A692T|IKBKB_ENST00000416505.2_Missense_Mutation_p.A635T|IKBKB_ENST00000379708.3_Missense_Mutation_p.A471T|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	694					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GCCCTCCACGGCCTCCAACAG	0.597													False	0	False	8:42183581	0	A	42183581	G	A	42183581	3	1	88	1	0	0	0	0	1	0	0	0	7661	1203	42	2	2154	2	IKBKB	8	42183581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5323	42183581	104180441	9045	16757											
POLB	5423	broad.mit.edu	37	chr8	42218842	42218842	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagtggtgacatggatgttCtcctgacccatcccagcttc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42218842C>A	ENST00000265421.4	+	10	750	c.580C>A	c.(580-582)Ctc>Atc	p.L194I	POLB_ENST00000538005.1_Missense_Mutation_p.L40I	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	194					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	CATGGATGTTCTCCTGACCCA	0.423								DNA polymerases (catalytic subunits)					False	0	False	8:42218842	0	A	42218842	C	A	42218842	3	1	88	1	0	0	0	0	1	0	0	0	12258	913	32	3	618	3	POLB	8	42218842	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35261	42218842	104145180	9046	16758											
DKK4	27121	broad.mit.edu	37	chr8	42233345	42233345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcagacaggcactgtgAgccctgtggagggaatctgt	15	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42233345A>G	ENST00000220812.2	-	2	301	c.115T>C	c.(115-117)Tca>Cca	p.S39P		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	39					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			AGGCACTGTGAGCCCTGTGGA	0.547													False	0	False	8:42233345	0	G	42233345	A	G	42233345	3	3	88	1	0	0	0	0	1	0	0	0	4577	304	11	4	571	4	DKK4	8	42233345	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14503	42233345	104130677	9047	16759											
RNF170	81790	broad.mit.edu	37	chr8	42725169	42725169	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaaaaagatgtccacagttGgtctccaccgggaaggaggc	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42725169G>T	ENST00000319073.4	-	4	546	c.86C>A	c.(85-87)cCa>cAa	p.P29Q	RNF170_ENST00000319104.3_Silent_p.T100T|RNF170_ENST00000526349.1_Silent_p.T16T|RNF170_ENST00000534961.1_Silent_p.T100T|RNF170_ENST00000527424.1_Silent_p.T100T			Q96K19	RN170_HUMAN	ring finger protein 170	0						integral to membrane	zinc ion binding			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTCCACAGTTGGTCTCCACCG	0.483													False	0	False	8:42725169	0	T	42725169	G	T	42725169	3	4	88	1	0	0	0	0	1	0	0	0	13541	1335	47	3	703	3	RNF170	8	42725169	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491824	42725169	103638853	9048	16760											
FNTA	2339	broad.mit.edu	37	chr8	42919301	42919301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgtgatgaaagaagtgaacGagcttttaagctaacccggg	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42919301G>A	ENST00000302279.3	+	3	538	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	FNTA_ENST00000529687.1_5'UTR|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.R72Q|FNTA_ENST00000342116.4_Intron|FNTA_ENST00000524546.1_3'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	115					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGAAGTGAACGAGCTTTTAAG	0.383													False	0	False	8:42919301	0	A	42919301	G	A	42919301	3	1	88	1	0	0	0	0	1	0	0	0	6017	1058	37	1	354	1	FNTA	8	42919301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194132	42919301	103444721	9049	16761											
FNTA	2339	broad.mit.edu	37	chr8	42932451	42932451	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctggaaccaaagatacttCgttatttctaacaccactgg	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42932451C>T	ENST00000529687.1	+	6	1161	c.273C>T	c.(271-273)ttC>ttT	p.F91F	RP11-598P20.5_ENST00000534420.1_Silent_p.F199F|FNTA_ENST00000342116.4_Silent_p.F175F|FNTA_ENST00000302279.3_Silent_p.F242F			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	242					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AAAGATACTTCGTTATTTCTA	0.393													False	0	False	8:42932451	0	T	42932451	C	T	42932451	2	4	88	1	0	0	0	0	0	0	0	1	6017	883	31	1		1	FNTA	8	42932451	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13150	42932451	103431571	9050	16762											
FNTA	2339	broad.mit.edu	37	chr8	42940355	42940355	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tataagaaaggaatattggaGatacattggaagatcccttc	9	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42940355G>A	ENST00000529687.1	+	9	1505	c.617G>A	c.(616-618)aGa>aAa	p.R206K	FNTA_ENST00000342116.4_Missense_Mutation_p.R290K|FNTA_ENST00000302279.3_Missense_Mutation_p.R357K			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	357					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GAATATTGGAGATACATTGGA	0.318													False	0	False	8:42940355	0	A	42940355	G	A	42940355	3	1	88	1	0	0	0	0	1	0	0	0	6017	942	33	2	1104	2	FNTA	8	42940355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7904	42940355	103423667	9051	16763											
HGSNAT	138050	broad.mit.edu	37	chr8	43027471	43027471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggattgctcttatactcatGgtctttgtcaattatggagg	10	6	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:43027471G>A	ENST00000458501.2	+	8	846	c.846G>A	c.(844-846)atG>atA	p.M282I	HGSNAT_ENST00000379644.4_Missense_Mutation_p.M254I			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	282					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTATACTCATGGTCTTTGTCA	0.368													False	0	False	8:43027471	0	A	43027471	G	A	43027471	3	1	88	1	0	0	0	0	1	0	0	0	7135	1348	47	2	792	2	HGSNAT	8	43027471	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87116	43027471	103336551	9052	16764											
HGSNAT	138050	broad.mit.edu	37	chr8	43033296	43033296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttcaaaattcagattgCtggggaagattgcatggagg	15	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:43033296C>T	ENST00000458501.2	+	10	1015	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L	HGSNAT_ENST00000379644.4_Silent_p.L311L			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	339					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATTCAGATTGCTGGGGAAGAT	0.363													False	0	False	8:43033296	0	T	43033296	C	T	43033296	2	4	88	1	0	0	0	0	0	0	0	1	7135	796	28	2		2	HGSNAT	8	43033296	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5825	43033296	103330726	9053	16765											
PRKDC	5591	broad.mit.edu	37	chr8	48691355	48691355	+	Missense_Mutation	SNP	G	G	A													tgactgtttcagtacgattaGcgcccctatgatttaataat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48691355G>A	ENST00000314191.2	-	83	11638	c.11582C>T	c.(11581-11583)gCt>gTt	p.A3861V	PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3862	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGTACGATTAGCGCCCCTATG	0.318								Non-homologous end-joining					False	0	False	8:48691355	0	A	48691355	G	A	48691355	3	1	88	1	0	0	0	0	1	0	0	0	12597	971	34	2	821	2	PRKDC	8	48691355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5658059	48691355	97672667	9054	16766	203	2									
PRKDC	5591	broad.mit.edu	37	chr8	48691356	48691356	+	Missense_Mutation	SNP	C	C	T													gactgtttcagtacgattagCgcccctatgatttaataata							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48691356C>T	ENST00000314191.2	-	83	11637	c.11581G>A	c.(11581-11583)Gct>Act	p.A3861T	PRKDC_ENST00000338368.3_Missense_Mutation_p.A3830T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3862	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTACGATTAGCGCCCCTATGA	0.323								Non-homologous end-joining					False	0	False	8:48691356	0	T	48691356	C	T	48691356	3	4	88	1	0	0	0	0	1	0	0	0	12597	768	27	1	822	1	PRKDC	8	48691356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	48691356	97672666	9055	16767	203	2									
PRKDC	5591	broad.mit.edu	37	chr8	48701608	48701608	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcttacatcattgctccaAtcctgtcaggggaaaaaaaa	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48701608A>G	ENST00000314191.2	-	77	10814	c.10758T>C	c.(10756-10758)gaT>gaC	p.D3586D	PRKDC_ENST00000338368.3_Silent_p.D3586D|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3587					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CATTGCTCCAATCCTGTCAGG	0.343								Non-homologous end-joining					False	0	False	8:48701608	0	G	48701608	A	G	48701608	2	3	88	1	0	0	0	0	0	0	0	1	12597	98	4	4		4	PRKDC	8	48701608	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10252	48701608	97662414	9056	16768											
PRKDC	5591	broad.mit.edu	37	chr8	48743248	48743248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtgccggtagcttctgTacagaacgacctgggcatcc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48743248T>C	ENST00000314191.2	-	62	8368	c.8312A>G	c.(8311-8313)tAc>tGc	p.Y2771C	PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2771C|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2772	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTAGCTTCTGTACAGAACGAC	0.498								Non-homologous end-joining					False	0	False	8:48743248	0	C	48743248	T	C	48743248	3	2	88	1	0	0	0	0	1	0	0	0	12597	1638	57	4	4175	4	PRKDC	8	48743248	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41640	48743248	97620774	9057	16769											
PRKDC	5591	broad.mit.edu	37	chr8	48790367	48790367	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaagaacttctgtcatcaAttccaacaacatagggcttt	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48790367A>C	ENST00000314191.2	-	41	5334	c.5278T>G	c.(5278-5280)Ttg>Gtg	p.L1760V	PRKDC_ENST00000338368.3_Missense_Mutation_p.L1760V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1761					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCTGTCATCAATTCCAACAAC	0.368								Non-homologous end-joining					False	0	False	8:48790367	0	C	48790367	A	C	48790367	3	2	88	1	0	0	0	0	1	0	0	0	12597	98	4	4	7293	4	PRKDC	8	48790367	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47119	48790367	97573655	9058	16770											
PXDNL	137902	broad.mit.edu	37	chr8	52258438	52258438	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatccttatcaacaggatagCtgtattgagctgagcgtttc	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52258438C>A	ENST00000356297.4	-	20	4071	c.3971G>T	c.(3970-3972)aGc>aTc	p.S1324I	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1324					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AACAGGATAGCTGTATTGAGC	0.388													False	0	False	8:52258438	0	A	52258438	C	A	52258438	3	1	88	1	0	0	0	0	1	0	0	0	12927	797	28	3	436	3	PXDNL	8	52258438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3468071	52258438	94105584	9059	16771											
PXDNL	137902	broad.mit.edu	37	chr8	52321942	52321942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcaggcgcgcgaaggCggtcagcgccgcgccccacg	16	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52321942C>T	ENST00000356297.4	-	17	2342	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T	PXDNL_ENST00000543296.1_Missense_Mutation_p.A748T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	748					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGCGCGAAGGCGGTCAGCGCC	0.736													False	0	False	8:52321942	0	T	52321942	C	T	52321942	3	4	88	1	0	0	0	0	1	0	0	0	12927	768	27	1	2177	1	PXDNL	8	52321942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63504	52321942	94042080	9060	16772											
PXDNL	137902	broad.mit.edu	37	chr8	52323862	52323862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacacgttcccgtatcagCtgcagcgtgtgctcaaaaat	8	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52323862C>T	ENST00000356297.4	-	16	2110	c.2010G>A	c.(2008-2010)caG>caA	p.Q670Q	PXDNL_ENST00000543296.1_Silent_p.Q670Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	670					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCGTATCAGCTGCAGCGTGT	0.522													False	0	False	8:52323862	0	T	52323862	C	T	52323862	2	4	88	1	0	0	0	0	0	0	0	1	12927	796	28	2		2	PXDNL	8	52323862	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1920	52323862	94040160	9061	16773											
PXDNL	137902	broad.mit.edu	37	chr8	52384855	52384855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcggctcaaaagtaattCgggggctctctgcaacaaaa	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52384855C>T	ENST00000356297.4	-	8	804	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	235	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAAAGTAATTCGGGGGCTCTC	0.413													False	0	True	8:52384855	0	T	52384855	C	T	52384855	3	4	88	1	0	0	0	0	1	0	0	0	12927	884	31	1	3751	1	PXDNL	8	52384855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60993	52384855	93979167	9062	16774											
ST18	9705	broad.mit.edu	37	chr8	53074010	53074010	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accgaaaacttgggcatcaaAactggcataatcaaatggta	8	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53074010A>C	ENST00000276480.7	-	14	2202	c.1519T>G	c.(1519-1521)Ttt>Gtt	p.F507V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	507						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGGCATCAAAACTGGCATAA	0.423													False	0	True	8:53074010	0	C	53074010	A	C	53074010	3	2	88	1	0	0	0	0	1	0	0	0	15294	14	1	4	1676	4	ST18	8	53074010	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	689155	53074010	93290012	9063	16775											
RB1CC1	9821	broad.mit.edu	37	chr8	53573722	53573722	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctaagcagtacatctgaGgaactgtactaagagcttca	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53573722G>T	ENST00000025008.5	-	10	2001	c.1478C>A	c.(1477-1479)cCt>cAt	p.P493H	RB1CC1_ENST00000435644.2_Missense_Mutation_p.P493H|RB1CC1_ENST00000539297.1_Missense_Mutation_p.P493H|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	493					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GTACATCTGAGGAACTGTACT	0.373													False	0	False	8:53573722	0	T	53573722	G	T	53573722	3	4	88	1	0	0	0	0	1	0	0	0	13178	1000	35	3	3366	3	RB1CC1	8	53573722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	499712	53573722	92790300	9064	16776											
RB1CC1	9821	broad.mit.edu	37	chr8	53574165	53574165	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctgcttaatatctaacaGttttctatgattttgcaaca	4	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53574165G>T	ENST00000025008.5	-	9	1811	c.1288C>A	c.(1288-1290)Ctg>Atg	p.L430M	RB1CC1_ENST00000435644.2_Missense_Mutation_p.L430M|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L430M|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	430					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATATCTAACAGTTTTCTATGA	0.343													False	0	True	8:53574165	0	T	53574165	G	T	53574165	3	4	88	1	0	0	0	0	1	0	0	0	13178	1020	36	3	3560	3	RB1CC1	8	53574165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	443	53574165	92789857	9065	16777											
RB1CC1	9821	broad.mit.edu	37	chr8	53596231	53596231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttaggaatagcaggtggacGatcacataagatcatttctt	9	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53596231G>A	ENST00000025008.5	-	5	770	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	RB1CC1_ENST00000435644.2_Missense_Mutation_p.R83C|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R83C|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	83					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCAGGTGGACGATCACATAAG	0.289													False	0	False	8:53596231	0	A	53596231	G	A	53596231	3	1	88	1	0	0	0	0	1	0	0	0	13178	1058	37	1	4617	1	RB1CC1	8	53596231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22066	53596231	92767791	9066	16778											
NPBWR1	2831	broad.mit.edu	37	chr8	53852661	53852661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtacgtgttgctgcgggCgccccgcatgaagaccgtca	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53852661C>T	ENST00000331251.3	+	1	1671	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	65					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TTGCTGCGGGCGCCCCGCATG	0.657													False	0	True	8:53852661	0	T	53852661	C	T	53852661	3	4	88	1	0	0	0	0	1	0	0	0	10636	768	27	1	196	1	NPBWR1	8	53852661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	256430	53852661	92511361	9067	16779											
MRPL15	29088	broad.mit.edu	37	chr8	55055274	55055274	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgaagtacagttggcttcaGaactagctattgctgccatt	9	8	1	2	rs140295154	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55055274G>A	ENST00000260102.4	+	4	555	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	161					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			GTTGGCTTCAGAACTAGCTAT	0.393													False	0	False	8:55055274	0	A	55055274	G	A	55055274	3	1	88	1	0	0	0	0	1	0	0	0	9847	943	33	2	495	2	MRPL15	8	55055274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1202613	55055274	91308748	9068	16780											
MRPL15	29088	broad.mit.edu	37	chr8	55055322	55055322	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggtggtgttgttactacaGccttctatgatccaagaagt	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55055322G>T	ENST00000260102.4	+	4	603	c.529G>T	c.(529-531)Gcc>Tcc	p.A177S		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	177					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TGTTACTACAGCCTTCTATGA	0.383													False	0	False	8:55055322	0	T	55055322	G	T	55055322	3	4	88	1	0	0	0	0	1	0	0	0	9847	971	34	3	543	3	MRPL15	8	55055322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	55055322	91308700	9069	16781											
MRPL15	29088	broad.mit.edu	37	chr8	55060128	55060128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttatatcttacctgataTcactaaagatgaactcttca	5	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55060128T>C	ENST00000260102.4	+	5	814	c.740T>C	c.(739-741)aTc>aCc	p.I247T		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	247					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTACCTGATATCACTAAAGAT	0.453													False	0	False	8:55060128	0	C	55060128	T	C	55060128	3	2	88	1	0	0	0	0	1	0	0	0	9847	1435	50	4	758	4	MRPL15	8	55060128	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4806	55060128	91303894	9070	16782											
RP1	6101	broad.mit.edu	37	chr8	55533931	55533931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagccgggccattagcgcGcactcaccgccccaccccgt	10	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55533931G>A	ENST00000220676.1	+	2	553	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	135					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.A135A(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATTAGCGCGCACTCACCGC	0.692													False	0	True	8:55533931	0	A	55533931	G	A	55533931	2	1	88	1	0	0	0	0	0	0	0	1	13611	1074	38	1		1	RP1	8	55533931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	473803	55533931	90830091	9071	16783											
RP1	6101	broad.mit.edu	37	chr8	55537454	55537454	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacagttgagatgaaagttCgattcagaataaaagaggaa	11	3	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55537454C>T	ENST00000220676.1	+	4	1160	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	338					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGAAAGTTCGATTCAGAAT	0.328													False	0	False	8:55537454	0	T	55537454	C	T	55537454	4	4	88	1	0	0	0	0	0	1	0	0	13611	876	31	1	1022	1	RP1	8	55537454	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3523	55537454	90826568	9072	16784											
RP1	6101	broad.mit.edu	37	chr8	55539291	55539291	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtaaattgtagcaataAtagtttttcagggaatgatc	10	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55539291A>C	ENST00000220676.1	+	4	2997	c.2849A>C	c.(2848-2850)aAt>aCt	p.N950T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	950					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTAGCAATAATAGTTTTTCA	0.333													False	0	False	8:55539291	0	C	55539291	A	C	55539291	3	2	88	1	0	0	0	0	1	0	0	0	13611	101	4	4	2859	4	RP1	8	55539291	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1837	55539291	90824731	9073	16785											
RP1	6101	broad.mit.edu	37	chr8	55540824	55540824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catgacatcaagtgaaagaaAcatttcagaattggaatctt	7	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55540824A>C	ENST00000220676.1	+	4	4530	c.4382A>C	c.(4381-4383)aAc>aCc	p.N1461T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1461					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGTGAAAGAAACATTTCAGAA	0.363													False	0	True	8:55540824	0	C	55540824	A	C	55540824	3	2	88	1	0	0	0	0	1	0	0	0	13611	43	2	4	4392	4	RP1	8	55540824	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1533	55540824	90823198	9074	16786											
CHCHD7	79145	broad.mit.edu	37	chr8	57129954	57129954	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatgcctacggcagcagaaaGagatgaaatcttgagagcag	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57129954G>A	ENST00000523975.1	+	5	402	c.254G>A	c.(253-255)aGa>aAa	p.R85K	CHCHD7_ENST00000355315.3_Missense_Mutation_p.R73K|CHCHD7_ENST00000396723.5_Missense_Mutation_p.R82K|CHCHD7_ENST00000303759.3_Missense_Mutation_p.R98K|CHCHD7_ENST00000521831.1_3'UTR|CHCHD7_ENST00000521524.1_3'UTR|CHCHD7_ENST00000523061.1_3'UTR|CHCHD7_ENST00000518801.1_3'UTR|CHCHD7_ENST00000519367.1_3'UTR			Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7	73									CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			GCAGCAGAAAGAGATGAAATC	0.343			T	PLAG1	salivary adenoma								False	0	True	8:57129954	0	A	57129954	G	A	57129954	3	1	88	1	0	0	0	0	1	0	0	0	3344	942	33	2	351	2	CHCHD7	8	57129954	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1589130	57129954	89234068	9075	16787											
SDR16C5	195814	broad.mit.edu	37	chr8	57221490	57221490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctatgtttttcttacctgCcagcccatttactccactta	4	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57221490C>T	ENST00000396721.2	-	3	560	c.430G>A	c.(430-432)Gca>Aca	p.A144T	SDR16C5_ENST00000303749.3_Missense_Mutation_p.A188T|SDR16C5_ENST00000522671.1_Missense_Mutation_p.A188T			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	188					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTCTTACCTGCCAGCCCATTT	0.358													False	0	False	8:57221490	0	T	57221490	C	T	57221490	3	4	88	1	0	0	0	0	1	0	0	0	14052	739	26	2	383	2	SDR16C5	8	57221490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91536	57221490	89142532	9076	16788											
SDR16C5	195814	broad.mit.edu	37	chr8	57228591	57228591	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctggtcggctactctatAcactccttccttttggctgc	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57228591A>C	ENST00000396721.2	-	2	446	c.316T>G	c.(316-318)Tat>Gat	p.Y106D	SDR16C5_ENST00000303749.3_Missense_Mutation_p.Y106D|SDR16C5_ENST00000522671.1_Missense_Mutation_p.Y106D			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	106					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GCTACTCTATACACTCCTTCC	0.453													False	0	False	8:57228591	0	C	57228591	A	C	57228591	3	2	88	1	0	0	0	0	1	0	0	0	14052	391	14	4	637	4	SDR16C5	8	57228591	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7101	57228591	89135431	9077	16789											
PENK	5179	broad.mit.edu	37	chr8	57354416	57354416	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttgaggaagctctggTttggacagctgcaggagctc	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57354416T>G	ENST00000314922.3	-	2	295	c.219A>C	c.(217-219)aaA>aaC	p.K73N	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.K73N	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	73					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GAAGCTCTGGTTTGGACAGCT	0.468													False	0	True	8:57354416	0	G	57354416	T	G	57354416	3	3	88	1	0	0	0	0	1	0	0	0	11795	1722	60	4	588	4	PENK	8	57354416	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	125825	57354416	89009606	9078	16790											
PENK	5179	broad.mit.edu	37	chr8	57358278	57358278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccgacccggtgcgaaccGccatacgcgccgcgcggtgg	15	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57358278G>A	ENST00000518770.1	-	3	388	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	PENK_ENST00000523051.1_Intron|PENK_ENST00000314922.3_Intron|PENK_ENST00000451791.2_Intron			P01210	PENK_HUMAN	proenkephalin	138					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GGTGCGAACCGCCATACGCGC	0.667													False	0	False	8:57358278	0	A	57358278	G	A	57358278	3	1	88	1	0	0	0	0	1	0	0	0	11795	1102	38	1		1	PENK	8	57358278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3862	57358278	89005744	9079	16791											
FAM110B	90362	broad.mit.edu	37	chr8	59059135	59059135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgtgcagagggagaacCtgaagctggagatcctgaag	17	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59059135C>T	ENST00000361488.3	+	5	1226	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	116						microtubule organizing center|mitochondrion|nucleus		p.L116M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GAGGGAGAACCTGAAGCTGGA	0.662													False	0	False	8:59059135	0	T	59059135	C	T	59059135	2	4	88	1	0	0	0	0	0	0	0	1	5433	680	24	2		2	FAM110B	8	59059135	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1700857	59059135	87304887	9080	16792											
UBXN2B	137886	broad.mit.edu	37	chr8	59360082	59360082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctagaagcagatattcttaAcactgtgttactccagcaac	7	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59360082A>G	ENST00000399598.2	+	8	1090	c.968A>G	c.(967-969)aAc>aGc	p.N323S		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	323	UBX.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GATATTCTTAACACTGTGTTA	0.393													False	0	False	8:59360082	0	G	59360082	A	G	59360082	3	3	88	1	0	0	0	0	1	0	0	0	16999	43	2	4	998	4	UBXN2B	8	59360082	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	300947	59360082	87003940	9081	16793											
CYP7A1	1581	broad.mit.edu	37	chr8	59404294	59404294	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaatagaaggtagtctttgTcttcccgttttcatcaagat	7	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59404294T>C	ENST00000301645.3	-	6	1392	c.1255A>G	c.(1255-1257)Aca>Gca	p.T419A		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	419					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTAGTCTTTGTCTTCCCGTTT	0.343									Neonatal Giant Cell Hepatitis				False	0	False	8:59404294	0	C	59404294	T	C	59404294	3	2	88	1	0	0	0	0	1	0	0	0	4221	1667	58	4	263	4	CYP7A1	8	59404294	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44212	59404294	86959728	9082	16794											
NSMAF	8439	broad.mit.edu	37	chr8	59512420	59512420	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacatcatcaccatagaattCtggaattaactgaaagtttc	5	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59512420C>A	ENST00000038176.3	-	18	1554	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	NSMAF_ENST00000427130.2_Nonsense_Mutation_p.E479*	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	448	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCATAGAATTCTGGAATTAAC	0.398													False	0	False	8:59512420	0	A	59512420	C	A	59512420	4	1	88	1	0	0	0	0	0	1	0	0	10742	922	32	3	1467	3	NSMAF	8	59512420	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108126	59512420	86851602	9083	16795											
TOX	9760	broad.mit.edu	37	chr8	59739462	59739462	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggttttctttttatagacCtgcaacaacagcaaagagtc	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59739462C>A	ENST00000361421.1	-	6	1145		c.e6-1			NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box							nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TTTTATAGACCTGCAACAACA	0.403													False	0	False	8:59739462	0	A	59739462	C	A	59739462	5	1	88	1	0	0	0	0	0	0	1	0	16460	695	24	3	672	3	TOX	8	59739462	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227042	59739462	86624560	9084	16796											
RAB2A	5862	broad.mit.edu	37	chr8	61496780	61496780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttacaggcagggcaagaatCctttcgttccatcacaaggt	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61496780C>T	ENST00000262646.7	+	4	551	c.200C>T	c.(199-201)tCc>tTc	p.S67F	RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000531289.1_Missense_Mutation_p.S43F|RAB2A_ENST00000529579.1_Missense_Mutation_p.S67F	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	67					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GGGCAAGAATCCTTTCGTTCC	0.378													False	0	False	8:61496780	0	T	61496780	C	T	61496780	3	4	88	1	0	0	0	0	1	0	0	0	12996	855	30	2	214	2	RAB2A	8	61496780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1757318	61496780	84867242	9085	16797											
CHD7	55636	broad.mit.edu	37	chr8	61729060	61729060	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaacaagttcctttcagaGgtacgacatacctgcttact	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61729060G>A	ENST00000423902.2	+	8	3092	c.2613G>A	c.(2611-2613)gaG>gaA	p.E871E	CHD7_ENST00000525508.1_Splice_Site_p.E871E|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	871					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCTTTCAGAGGTACGACATA	0.323													False	0	False	8:61729060	0	A	61729060	G	A	61729060	5	1	88	1	0	0	0	0	0	0	1	0	3353	1014	35	2	2639	2	CHD7	8	61729060	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	232280	61729060	84634962	9086	16798											
CHD7	55636	broad.mit.edu	37	chr8	61734637	61734637	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagttccagggagtataaaAacaataacaaactcagggaa	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61734637A>C	ENST00000423902.2	+	11	3369	c.2890A>C	c.(2890-2892)Aac>Cac	p.N964H	CHD7_ENST00000525508.1_Missense_Mutation_p.N964H|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	964					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAGTATAAAAACAATAACAA	0.378													False	0	True	8:61734637	0	C	61734637	A	C	61734637	3	2	88	1	0	0	0	0	1	0	0	0	3353	14	1	4	2928	4	CHD7	8	61734637	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5577	61734637	84629385	9087	16799											
CHD7	55636	broad.mit.edu	37	chr8	61748784	61748784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggccacagggtgcttAtcttttcccagatggtgcgc	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61748784A>G	ENST00000423902.2	+	16	4410	c.3931A>G	c.(3931-3933)Atc>Gtc	p.I1311V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1311	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGGTGCTTATCTTTTCCCA	0.473													False	0	False	8:61748784	0	G	61748784	A	G	61748784	3	3	88	1	0	0	0	0	1	0	0	0	3353	449	16	4	3989	4	CHD7	8	61748784	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14147	61748784	84615238	9088	16800											
CHD7	55636	broad.mit.edu	37	chr8	61750324	61750324	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagggaaatgttcgacaaggCtagtttgaaactgggcctgg	14	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61750324C>A	ENST00000423902.2	+	18	4762	c.4283C>A	c.(4282-4284)gCt>gAt	p.A1428D	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1428	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTCGACAAGGCTAGTTTGAAA	0.423													False	0	False	8:61750324	0	A	61750324	C	A	61750324	3	1	88	1	0	0	0	0	1	0	0	0	3353	797	28	3	4349	3	CHD7	8	61750324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1540	61750324	84613698	9089	16801											
CHD7	55636	broad.mit.edu	37	chr8	61768711	61768711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctctccatggtcggccaaGccagcattagtgggagtgag	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61768711G>T	ENST00000423902.2	+	33	7593	c.7114G>T	c.(7114-7116)Gcc>Tcc	p.A2372S	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2372					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGTCGGCCAAGCCAGCATTAG	0.512													False	0	False	8:61768711	0	T	61768711	G	T	61768711	3	4	88	1	0	0	0	0	1	0	0	0	3353	971	34	3	7240	3	CHD7	8	61768711	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18387	61768711	84595311	9090	16802											
CHD7	55636	broad.mit.edu	37	chr8	61777910	61777910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgctgccaggaatggcGggcctgcccaacgtgtttgg	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61777910G>A	ENST00000423902.2	+	38	8891	c.8412G>A	c.(8410-8412)gcG>gcA	p.A2804A	CHD7_ENST00000524602.1_Silent_p.A755A	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2804					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGAATGGCGGGCCTGCCCA	0.607													False	0	True	8:61777910	0	A	61777910	G	A	61777910	2	1	88	1	0	0	0	0	0	0	0	1	3353	1103	39	1		1	CHD7	8	61777910	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9199	61777910	84586112	9091	16803											
CLVS1	157807	broad.mit.edu	37	chr8	62212434	62212434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatcagaagttaaacacttgGaacggagatttggccaagat	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62212434G>T	ENST00000519846.1	+	3	520	c.48G>T	c.(46-48)tgG>tgT	p.W16C	CLVS1_ENST00000325897.4_Missense_Mutation_p.W16C|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	16					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TAAACACTTGGAACGGAGATT	0.453													False	0	False	8:62212434	0	T	62212434	G	T	62212434	3	4	88	1	0	0	0	0	1	0	0	0	3594	1183	41	3	50	3	CLVS1	8	62212434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	434524	62212434	84151588	9092	16804											
ASPH	444	broad.mit.edu	37	chr8	62460657	62460657	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactctgtgtagcccgtttcTtttggggtccaccaaggctg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62460657T>G	ENST00000541428.1	-	21	1810	c.1650A>C	c.(1648-1650)aaA>aaC	p.K550N	ASPH_ENST00000379454.4_Missense_Mutation_p.K579N	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	579					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AGCCCGTTTCTTTTGGGGTCC	0.433													False	0	True	8:62460657	0	G	62460657	T	G	62460657	3	3	88	1	0	0	0	0	1	0	0	0	1057	1606	56	4	559	4	ASPH	8	62460657	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	248223	62460657	83903365	9093	16805											
ASPH	444	broad.mit.edu	37	chr8	62465611	62465611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttgttcccaaccctctgCatggcatcccccaggtggaa	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62465611C>T	ENST00000541428.1	-	20	1678	c.1518G>A	c.(1516-1518)atG>atA	p.M506I	ASPH_ENST00000379454.4_Missense_Mutation_p.M535I	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	535					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CAACCCTCTGCATGGCATCCC	0.413													False	0	False	8:62465611	0	T	62465611	C	T	62465611	3	4	88	1	0	0	0	0	1	0	0	0	1057	710	25	2	695	2	ASPH	8	62465611	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4954	62465611	83898411	9094	16806											
ASPH	444	broad.mit.edu	37	chr8	62578060	62578060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcaattttcttatcctttCggacatcctctttcttcccc	3	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62578060C>T	ENST00000389204.4	-	6	513	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	ASPH_ENST00000356457.5_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.R128Q|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000517903.1_Intron	NM_020164.4	NP_064549.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	155	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	cttatcctttcggacatcctc	0.408													False	0	True	8:62578060	0	T	62578060	C	T	62578060	3	4	88	1	0	0	0	0	1	0	0	0	1057	884	31	1	2308	1	ASPH	8	62578060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112449	62578060	83785962	9095	16807											
NKAIN3	286183	broad.mit.edu	37	chr8	63659620	63659620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgattacacgtacgtctctGtcacaggctgcatcgttgac	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:63659620G>A	ENST00000523211.1	+	4	535	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	NKAIN3_ENST00000328472.5_Missense_Mutation_p.V135I|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	135						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GTACGTCTCTGTCACAGGCTG	0.493													False	0	False	8:63659620	0	A	63659620	G	A	63659620	3	1	88	1	0	0	0	0	1	0	0	0	10505	1377	48	2	417	2	NKAIN3	8	63659620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1081560	63659620	82704402	9096	16808											
GGH	8836	broad.mit.edu	37	chr8	63927900	63927900	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaagactttcaatcaaaTatgtaacattgctgaaatga	6	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:63927900T>C	ENST00000260118.6	-	9	1350	c.948A>G	c.(946-948)atA>atG	p.I316M		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	316	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TTCAATCAAATATGTAACATT	0.299													False	0	True	8:63927900	0	C	63927900	T	C	63927900	3	2	88	1	0	0	0	0	1	0	0	0	6402	1396	49	4	12	4	GGH	8	63927900	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	268280	63927900	82436122	9097	16809											
BHLHE22	27319	broad.mit.edu	37	chr8	65494072	65494072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatccaaagagcaaaaggCgctgcggcttaacatcaatg	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:65494072C>T	ENST00000321870.1	+	1	1259	c.725C>T	c.(724-726)gCg>gTg	p.A242V	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GAGCAAAAGGCGCTGCGGCTT	0.672													False	0	False	8:65494072	0	T	65494072	C	T	65494072	3	4	88	1	0	0	0	0	1	0	0	0	1426	768	27	1	727	1	BHLHE22	8	65494072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1566172	65494072	80869950	9098	16810											
ARMC1	55156	broad.mit.edu	37	chr8	66539594	66539594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttaactaccgatagagCgtcaggctcttcactcatgg	10	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66539594C>T	ENST00000276569.3	-	2	284	c.40G>A	c.(40-42)Gct>Act	p.A14T	ARMC1_ENST00000523384.1_5'UTR|ARMC1_ENST00000458464.2_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	14					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			ACCGATAGAGCGTCAGGCTCT	0.423													False	0	False	8:66539594	0	T	66539594	C	T	66539594	3	4	88	1	0	0	0	0	1	0	0	0	953	768	27	1	832	1	ARMC1	8	66539594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1045522	66539594	79824428	9099	16811											
MTFR1	9650	broad.mit.edu	37	chr8	66619263	66619263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgacttagattctaccaCatttggtaccataccaccac	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66619263C>T	ENST00000262146.4	+	6	662	c.536C>T	c.(535-537)aCa>aTa	p.T179I	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.T146I	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	179						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATTCTACCACATTTGGTACC	0.438													False	0	False	8:66619263	0	T	66619263	C	T	66619263	3	4	88	1	0	0	0	0	1	0	0	0	9992	478	17	2	554	2	MTFR1	8	66619263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79669	66619263	79744759	9100	16812											
DNAJC5B	85479	broad.mit.edu	37	chr8	66989029	66989029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catatacgacaagtacggatCgctgggactctacgtggccg	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66989029C>T	ENST00000276570.5	+	4	541	c.254C>T	c.(253-255)tCg>tTg	p.S85L	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	85					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGTACGGATCGCTGGGACTC	0.463													False	0	False	8:66989029	0	T	66989029	C	T	66989029	3	4	88	1	0	0	0	0	1	0	0	0	4681	893	31	1	260	1	DNAJC5B	8	66989029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	369766	66989029	79374993	9101	16813											
TRIM55	84675	broad.mit.edu	37	chr8	67040557	67040557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctctaacccgtatttgCccacaagaggaggtaccacc	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67040557C>T	ENST00000315962.4	+	2	560	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	TRIM55_ENST00000353317.5_Missense_Mutation_p.P63S|TRIM55_ENST00000350034.4_Missense_Mutation_p.P63S|TRIM55_ENST00000276573.7_Missense_Mutation_p.P63S	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	63						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCCGTATTTGCCCACAAGAGG	0.478													False	0	True	8:67040557	0	T	67040557	C	T	67040557	3	4	88	1	0	0	0	0	1	0	0	0	16612	739	26	2	193	2	TRIM55	8	67040557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51528	67040557	79323465	9102	16814											
ADHFE1	137872	broad.mit.edu	37	chr8	67356848	67356848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctaaaaaacatgggtgCtaaaaatgtgtgcttgatga	11	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67356848C>T	ENST00000396623.3	+	5	249	c.218C>T	c.(217-219)gCt>gTt	p.A73V	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.A25V|ADHFE1_ENST00000379385.4_Missense_Mutation_p.A73V	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	73					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AACATGGGTGCTAAAAATGTG	0.423													False	0	False	8:67356848	0	T	67356848	C	T	67356848	3	4	88	1	0	0	0	0	1	0	0	0	314	797	28	2	236	2	ADHFE1	8	67356848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316291	67356848	79007174	9103	16815											
ADHFE1	137872	broad.mit.edu	37	chr8	67364315	67364315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgggctatccacgcgctgCggatcgtggctaagtatctg	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67364315C>T	ENST00000396623.3	+	9	893	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.R240W|ADHFE1_ENST00000379385.4_Missense_Mutation_p.R288W	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	288					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCACGCGCTGCGGATCGTGGC	0.567													False	0	False	8:67364315	0	T	67364315	C	T	67364315	3	4	88	1	0	0	0	0	1	0	0	0	314	759	27	1	896	1	ADHFE1	8	67364315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7467	67364315	78999707	9104	16816											
ADHFE1	137872	broad.mit.edu	37	chr8	67369306	67369306	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatttcgtttctccccagcCccatggcctttctgtggtgc	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67369306C>T	ENST00000396623.3	+	12	1098	c.1067C>T	c.(1066-1068)cCc>cTc	p.P356L	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Splice_Site_p.P308L	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	356					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TCTCCCCAGCCCCATGGCCTT	0.522													False	0	True	8:67369306	0	T	67369306	C	T	67369306	5	4	88	1	0	0	0	0	0	0	1	0	314	637	22	2	1113	2	ADHFE1	8	67369306	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4991	67369306	78994716	9105	16817											
C8orf46	254778	broad.mit.edu	37	chr8	67405895	67405895	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaggctgaaatgatgcatcaGatttacagctgcagtgacga	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67405895G>T	ENST00000305454.3	+	1	453	c.12G>T	c.(10-12)caG>caT	p.Q4H	C8orf46_ENST00000522977.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000480005.1_Missense_Mutation_p.Q4H|C8orf46_ENST00000482608.2_Intron|C8orf46_ENST00000521495.1_Missense_Mutation_p.Q4H	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	4										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGATGCATCAGATTTACAGCT	0.512													False	0	False	8:67405895	0	T	67405895	G	T	67405895	3	4	88	1	0	0	0	0	1	0	0	0	2451	933	33	3	14	3	C8orf46	8	67405895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36589	67405895	78958127	9106	16818											
VCPIP1	80124	broad.mit.edu	37	chr8	67576841	67576841	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtaaccatggactgtcGtccatcattagttgtgattc	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67576841G>A	ENST00000310421.4	-	1	2611	c.2353C>T	c.(2353-2355)Cga>Tga	p.R785*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	785					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	p.R785*(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATGGACTGTCGTCCATCATTA	0.433													False	0	False	8:67576841	0	A	67576841	G	A	67576841	4	1	88	1	0	0	0	0	0	1	0	0	17225	1153	40	1	1327	1	VCPIP1	8	67576841	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170946	67576841	78787181	9107	16819											
VCPIP1	80124	broad.mit.edu	37	chr8	67577555	67577555	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatctcctctgacctttcGcacagatgtgccatggcacc	7	17	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67577555G>A	ENST00000310421.4	-	1	1897	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	547					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTGACCTTTCGCACAGATGTG	0.423													False	0	False	8:67577555	0	A	67577555	G	A	67577555	4	1	88	1	0	0	0	0	0	1	0	0	17225	1095	38	1	2041	1	VCPIP1	8	67577555	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	714	67577555	78786467	9108	16820											
VCPIP1	80124	broad.mit.edu	37	chr8	67577597	67577597	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attacaagctgttaggttacTcattccatagtctggtacca	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67577597T>G	ENST00000310421.4	-	1	1855	c.1597A>C	c.(1597-1599)Agt>Cgt	p.S533R		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	533					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GTTAGGTTACTCATTCCATAG	0.418													False	0	False	8:67577597	0	G	67577597	T	G	67577597	3	3	88	1	0	0	0	0	1	0	0	0	17225	1551	54	4	2083	4	VCPIP1	8	67577597	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42	67577597	78786425	9109	16821											
VCPIP1	80124	broad.mit.edu	37	chr8	67578482	67578482	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttaagattctctcttaAggcatgccagaagagctctc	8	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67578482A>C	ENST00000310421.4	-	1	970	c.712T>G	c.(712-714)Tta>Gta	p.L238V		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	238	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTCTCTCTTAAGGCATGCCAG	0.512													False	0	False	8:67578482	0	C	67578482	A	C	67578482	3	2	88	1	0	0	0	0	1	0	0	0	17225	69	3	4	2968	4	VCPIP1	8	67578482	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	885	67578482	78785540	9110	16822											
SGK3	23678	broad.mit.edu	37	chr8	67710851	67710851	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcagagtttgataaactTtataacactgtaagtaatcg	7	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67710851T>G	ENST00000396596.1	+	3	385	c.171T>G	c.(169-171)ctT>ctG	p.L57L	SGK3_ENST00000520976.1_Silent_p.L57L|C8orf44-SGK3_ENST00000519289.1_Silent_p.L57L|SGK3_ENST00000521198.2_Silent_p.L57L|SGK3_ENST00000345714.4_Silent_p.L57L|SGK3_ENST00000522398.1_Silent_p.L57L	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	57	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTGATAAACTTTATAACACTG	0.303													False	0	True	8:67710851	0	G	67710851	T	G	67710851	2	3	88	1	0	0	0	0	0	0	0	1	14293	1828	64	4		4	SGK3	8	67710851	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	132369	67710851	78653171	9111	16823											
SGK3	23678	broad.mit.edu	37	chr8	67771751	67771751	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatagtgaatgccagtgtaTtggaggcagatgatgcattc	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67771751T>G	ENST00000396596.1	+	17	1640	c.1426T>G	c.(1426-1428)Ttg>Gtg	p.L476V	SGK3_ENST00000520976.1_Missense_Mutation_p.L444V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.L476V|SGK3_ENST00000521198.2_Missense_Mutation_p.L476V|SGK3_ENST00000345714.4_Missense_Mutation_p.L476V|SGK3_ENST00000522398.1_Missense_Mutation_p.L476V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	476	AGC-kinase C-terminal.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGCCAGTGTATTGGAGGCAGA	0.378													False	0	False	8:67771751	0	G	67771751	T	G	67771751	3	3	88	1	0	0	0	0	1	0	0	0	14293	1490	52	4	1488	4	SGK3	8	67771751	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	60900	67771751	78592271	9112	16824											
CSPP1	79848	broad.mit.edu	37	chr8	68030998	68030998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggttcaggaatgatgggcGtacagcctgcagcttatgtt	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68030998G>A	ENST00000262210.5	+	13	1655	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	CSPP1_ENST00000412460.1_Missense_Mutation_p.V248I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	577						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATGATGGGCGTACAGCCTGC	0.308													False	0	False	8:68030998	0	A	68030998	G	A	68030998	3	1	88	1	0	0	0	0	1	0	0	0	3987	1145	40	1	1787	1	CSPP1	8	68030998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	259247	68030998	78333024	9113	16825											
ARFGEF1	10565	broad.mit.edu	37	chr8	68113742	68113742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcccaggcactaacgcGgctctcatccatgtacatcc	6	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68113742G>A	ENST00000262215.3	-	37	5616	c.5227C>T	c.(5227-5229)Cgc>Tgc	p.R1743C	ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R581C|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R1197C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1743					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCACTAACGCGGCTCTCATCC	0.547													False	0	False	8:68113742	0	A	68113742	G	A	68113742	3	1	88	1	0	0	0	0	1	0	0	0	854	1116	39	1	334	1	ARFGEF1	8	68113742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82744	68113742	78250280	9114	16826											
ARFGEF1	10565	broad.mit.edu	37	chr8	68117025	68117025	+	Silent	SNP	G	G	A													cacaacacatttaatcaacaGggcagcaaacaatttttgtt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68117025G>A	ENST00000262215.3	-	35	5238	c.4849C>T	c.(4849-4851)Ctg>Ttg	p.L1617L	ARFGEF1_ENST00000518230.1_Silent_p.L455L|ARFGEF1_ENST00000520381.1_Silent_p.L1071L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1617					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAATCAACAGGGCAGCAAAC	0.383													False	0	True	8:68117025	0	A	68117025	G	A	68117025	2	1	88	1	0	0	0	0	0	0	0	1	854	991	35	2		2	ARFGEF1	8	68117025	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3283	68117025	78246997	9115	16827	204	2									
ARFGEF1	10565	broad.mit.edu	37	chr8	68117027	68117027	+	Missense_Mutation	SNP	G	G	A													caacacatttaatcaacaggGcagcaaacaatttttgttct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68117027G>A	ENST00000262215.3	-	35	5236	c.4847C>T	c.(4846-4848)gCc>gTc	p.A1616V	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A454V|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1070V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1616					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AATCAACAGGGCAGCAAACAA	0.373													False	0	True	8:68117027	0	A	68117027	G	A	68117027	3	1	88	1	0	0	0	0	1	0	0	0	854	1203	42	2	722	2	ARFGEF1	8	68117027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	68117027	78246995	9116	16828	204	2									
ARFGEF1	10565	broad.mit.edu	37	chr8	68123756	68123756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgacttcttcattaacaGcagacgcagaaaccagtggt	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68123756G>T	ENST00000262215.3	-	34	5170	c.4781C>A	c.(4780-4782)gCt>gAt	p.A1594D	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A432D|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1048D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1594					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCATTAACAGCAGACGCAGA	0.328													False	0	False	8:68123756	0	T	68123756	G	T	68123756	3	4	88	1	0	0	0	0	1	0	0	0	854	971	34	3	792	3	ARFGEF1	8	68123756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6729	68123756	78240266	9117	16829											
ARFGEF1	10565	broad.mit.edu	37	chr8	68183949	68183949	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacgtacctcaatttgcatCttcagatgtgtcttgaaatt	6	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68183949C>A	ENST00000262215.3	-	10	1949	c.1560G>T	c.(1558-1560)aaG>aaT	p.K520N		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	520					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAATTTGCATCTTCAGATGTG	0.318													False	0	False	8:68183949	0	A	68183949	C	A	68183949	3	1	88	1	0	0	0	0	1	0	0	0	854	912	32	3	4109	3	ARFGEF1	8	68183949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60193	68183949	78180073	9118	16830											
ARFGEF1	10565	broad.mit.edu	37	chr8	68200271	68200271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaatcatggttttctcCgtcatataacacttcatttt	3	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68200271C>T	ENST00000262215.3	-	7	1335	c.946G>A	c.(946-948)Gga>Aga	p.G316R		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	316			G -> E (in a colorectal cancer sample; somatic mutation).		exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGGTTTTCTCCGTCATATAAC	0.294													False	0	False	8:68200271	0	T	68200271	C	T	68200271	3	4	88	1	0	0	0	0	1	0	0	0	854	661	23	1	4735	1	ARFGEF1	8	68200271	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16322	68200271	78163751	9119	16831											
PREX2	80243	broad.mit.edu	37	chr8	68965365	68965365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtggacacattgttgttaAtggatggaagatacataaca	10	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68965365A>G	ENST00000288368.4	+	9	1254	c.977A>G	c.(976-978)aAt>aGt	p.N326S	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	326	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTGTTGTTAATGGATGGAAG	0.318													False	0	True	8:68965365	0	G	68965365	A	G	68965365	3	3	88	1	0	0	0	0	1	0	0	0	12553	101	4	4	1011	4	PREX2	8	68965365	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	765094	68965365	77398657	9120	16832											
C8orf34	116328	broad.mit.edu	37	chr8	69445334	69445334	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catccacagccctaccccatCtgtaacagaagaagatattg	6	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:69445334C>A	ENST00000337103.4	+	6	2314	c.722C>A	c.(721-723)tCt>tAt	p.S241Y	C8orf34_ENST00000539993.1_Missense_Mutation_p.S266Y|C8orf34_ENST00000518698.1_Missense_Mutation_p.S352Y|C8orf34_ENST00000348340.2_Missense_Mutation_p.S266Y			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	266					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCTACCCCATCTGTAACAGAA	0.353													False	0	False	8:69445334	0	A	69445334	C	A	69445334	3	1	88	1	0	0	0	0	1	0	0	0	2442	913	32	3	744	3	C8orf34	8	69445334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	479969	69445334	76918688	9121	16833											
SULF1	23213	broad.mit.edu	37	chr8	70517147	70517147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggccaggtaccagacaGcctgtgaacaaccggggcag	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70517147G>A	ENST00000260128.4	+	13	2074	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.A453T|SULF1_ENST00000458141.2_Missense_Mutation_p.A453T|SULF1_ENST00000402687.4_Missense_Mutation_p.A453T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	453					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTACCAGACAGCCTGTGAACA	0.448													False	0	False	8:70517147	0	A	70517147	G	A	70517147	3	1	88	1	0	0	0	0	1	0	0	0	15452	971	34	2	1391	2	SULF1	8	70517147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1071813	70517147	75846875	9122	16834											
SULF1	23213	broad.mit.edu	37	chr8	70533385	70533385	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctacgctcgcggcttccAtgacaaagacaaagagtgca	9	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70533385A>C	ENST00000260128.4	+	14	2210	c.1493A>C	c.(1492-1494)cAt>cCt	p.H498P	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.H498P|SULF1_ENST00000458141.2_Missense_Mutation_p.H498P|SULF1_ENST00000402687.4_Missense_Mutation_p.H498P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	498					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CGCGGCTTCCATGACAAAGAC	0.527													False	0	False	8:70533385	0	C	70533385	A	C	70533385	3	2	88	1	0	0	0	0	1	0	0	0	15452	217	8	4	1531	4	SULF1	8	70533385	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16238	70533385	75830637	9123	16835											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585410	70585410	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaataaaaataaacccaacGaatttgaggccggcagccaa	7	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70585410G>A	ENST00000260126.4	-	10	2947	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	SLCO5A1_ENST00000530307.1_Silent_p.F692F|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAAACCCAACGAATTTGAGGC	0.488													False	0	False	8:70585410	0	A	70585410	G	A	70585410	2	1	88	1	0	0	0	0	0	0	0	1	14811	1049	37	1		1	SLCO5A1	8	70585410	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52025	70585410	75778612	9124	16836											
SLCO5A1	81796	broad.mit.edu	37	chr8	70617395	70617395	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagattctctggcaccaAgtttcaatttttttataatg	6	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70617395A>C	ENST00000260126.4	-	6	2199	c.1493T>G	c.(1492-1494)cTt>cGt	p.L498R	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L443R|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L498R	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTGGCACCAAGTTTCAATTT	0.398													False	0	False	8:70617395	0	C	70617395	A	C	70617395	3	2	88	1	0	0	0	0	1	0	0	0	14811	72	3	4	1073	4	SLCO5A1	8	70617395	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31985	70617395	75746627	9125	16837											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744219	70744219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggccgtcgttgggggcCgaggcgttcaactcttggat	15	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744219C>T	ENST00000260126.4	-	2	1396	c.690G>A	c.(688-690)tcG>tcA	p.S230S	SLCO5A1_ENST00000530307.1_Silent_p.S230S|SLCO5A1_ENST00000524945.1_Silent_p.S230S|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGTTGGGGGCCGAGGCGTTCA	0.632													False	0	False	8:70744219	0	T	70744219	C	T	70744219	2	4	88	1	0	0	0	0	0	0	0	1	14811	639	23	1		1	SLCO5A1	8	70744219	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126824	70744219	75619803	9126	16838											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744328	70744328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggccagccacaggggcCgccgaccccggccgccgaag	14	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744328C>T	ENST00000260126.4	-	2	1287	c.581G>A	c.(580-582)cGg>cAg	p.R194Q	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R194Q|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R194Q|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCACAGGGGCCGCCGACCCCG	0.637													False	0	False	8:70744328	0	T	70744328	C	T	70744328	3	4	88	1	0	0	0	0	1	0	0	0	14811	652	23	1	2001	1	SLCO5A1	8	70744328	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109	70744328	75619694	9127	16839											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744437	70744437	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcttcagactgtagcgccTttcaatggtggtaattacgc	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744437T>C	ENST00000260126.4	-	2	1178	c.472A>G	c.(472-474)Agg>Ggg	p.R158G	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R158G|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R158G|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CTGTAGCGCCTTTCAATGGTG	0.562											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	8:70744437	0	C	70744437	T	C	70744437	3	2	88	1	0	0	0	0	1	0	0	0	14811	1608	56	4	2110	4	SLCO5A1	8	70744437	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	109	70744437	75619585	9128	16840											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744640	70744640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttacagtccccgagccccGccgaagtggacggggcagag	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744640G>A	ENST00000260126.4	-	2	975	c.269C>T	c.(268-270)gCg>gTg	p.A90V	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A90V|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCCGAGCCCCGCCGAAGTGGA	0.642											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	8:70744640	0	A	70744640	G	A	70744640	3	1	88	1	0	0	0	0	1	0	0	0	14811	1087	38	1	2313	1	SLCO5A1	8	70744640	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203	70744640	75619382	9129	16841											
PRDM14	63978	broad.mit.edu	37	chr8	70978553	70978553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaatttctcatagcagtctCcataccacacaaggagctct	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70978553C>T	ENST00000276594.2	-	5	1301	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	367	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ATAGCAGTCTCCATACCACAC	0.512													False	0	False	8:70978553	0	T	70978553	C	T	70978553	3	4	88	1	0	0	0	0	1	0	0	0	12531	855	30	2	631	2	PRDM14	8	70978553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233913	70978553	75385469	9130	16842											
PRDM14	63978	broad.mit.edu	37	chr8	70981662	70981662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggaattaaagtgtcaggtCcacaacacgggccactctcg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70981662C>T	ENST00000276594.2	-	2	635	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGTGTCAGGTCCACAACACGG	0.587													False	0	False	8:70981662	0	T	70981662	C	T	70981662	3	4	88	1	0	0	0	0	1	0	0	0	12531	855	30	2	1309	2	PRDM14	8	70981662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3109	70981662	75382360	9131	16843											
NCOA2	10499	broad.mit.edu	37	chr8	71039253	71039253	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaggatttccctctgtctCtgggccagcatctgtgcatt	9	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71039253C>T	ENST00000452400.2	-	19	3892	c.3711G>A	c.(3709-3711)caG>caA	p.Q1237Q	NCOA2_ENST00000267974.4_Silent_p.Q325Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1237					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CCCTCTGTCTCTGGGCCAGCA	0.453			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								False	0	False	8:71039253	0	T	71039253	C	T	71039253	2	4	88	1	0	0	0	0	0	0	0	1	10297	912	32	2		2	NCOA2	8	71039253	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57591	71039253	75324769	9132	16844											
NCOA2	10499	broad.mit.edu	37	chr8	71041048	71041048	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcatacggagtgtggcataActaggccgctgtcccatggt	13	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71041048A>G	ENST00000452400.2	-	17	3673	c.3492T>C	c.(3490-3492)agT>agC	p.S1164S	NCOA2_ENST00000267974.4_Silent_p.S252S	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1164					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGTGGCATAACTAGGCCGCT	0.552			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								False	0	False	8:71041048	0	G	71041048	A	G	71041048	2	3	88	1	0	0	0	0	0	0	0	1	10297	40	2	4		4	NCOA2	8	71041048	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1795	71041048	75322974	9133	16845											
NCOA2	10499	broad.mit.edu	37	chr8	71068359	71068359	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatcatctttatctagcaaAtagcgaagtagtgcattctc	7	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71068359A>G	ENST00000452400.2	-	11	2422	c.2241T>C	c.(2239-2241)taT>taC	p.Y747Y	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	747					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCTAGCAAATAGCGAAGTA	0.438			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								False	0	True	8:71068359	0	G	71068359	A	G	71068359	2	3	88	1	0	0	0	0	0	0	0	1	10297	108	4	4		4	NCOA2	8	71068359	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27311	71068359	75295663	9134	16846											
NCOA2	10499	broad.mit.edu	37	chr8	71069403	71069403	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgatgggcagggctgttagaGctaattggattcagtggctt	15	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71069403G>T	ENST00000452400.2	-	11	1378	c.1197C>A	c.(1195-1197)agC>agA	p.S399R		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	399					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGCTGTTAGAGCTAATTGGAT	0.463			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								False	0	False	8:71069403	0	T	71069403	G	T	71069403	3	4	88	1	0	0	0	0	1	0	0	0	10297	962	34	3	3249	3	NCOA2	8	71069403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1044	71069403	75294619	9135	16847											
NCOA2	10499	broad.mit.edu	37	chr8	71082518	71082518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatacacttttgttcatcaGctcttcttggttatacctta	4	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71082518G>A	ENST00000452400.2	-	6	641	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	154	PAS.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTGTTCATCAGCTCTTCTTGG	0.433			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								False	0	False	8:71082518	0	A	71082518	G	A	71082518	2	1	88	1	0	0	0	0	0	0	0	1	10297	962	34	2		2	NCOA2	8	71082518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13115	71082518	75281504	9136	16848											
TRAM1	23471	broad.mit.edu	37	chr8	71508556	71508556	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgggtctgagatgtagttttCctaagaaagaagatataaaa	10	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71508556C>T	ENST00000521425.1	-	5	1205	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	TRAM1_ENST00000262213.2_Splice_Site_p.E143K|TRAM1_ENST00000521049.1_Intron|TRAM1_ENST00000536748.1_Splice_Site_p.E112K			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	143					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			ATGTAGTTTTCCTAAGAAAGA	0.373													False	0	True	8:71508556	0	T	71508556	C	T	71508556	5	4	88	1	0	0	0	0	0	0	1	0	16534	869	30	2	725	2	TRAM1	8	71508556	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	426038	71508556	74855466	9137	16849											
LACTB2	51110	broad.mit.edu	37	chr8	71553220	71553220	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtaagaatttgctgctctcGaatatttctgtgagaaatgt	9	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71553220G>A	ENST00000276590.4	-	5	694	c.658C>T	c.(658-660)Cga>Tga	p.R220*	LACTB2_ENST00000522447.1_Nonsense_Mutation_p.R220*|RP11-382J12.1_ENST00000518553.1_Intron|LACTB2_ENST00000517601.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	220							hydrolase activity|metal ion binding	p.R220*(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGCTGCTCTCGAATATTTCTG	0.294													False	0	False	8:71553220	0	A	71553220	G	A	71553220	4	1	88	1	0	0	0	0	0	1	0	0	8649	1066	37	1	220	1	LACTB2	8	71553220	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44664	71553220	74810802	9138	16850											
XKR9	389668	broad.mit.edu	37	chr8	71619372	71619372	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcttctggagcatggacaAgcgaatttcagtcagtgtaa	10	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71619372A>C	ENST00000408926.3	+	4	1011	c.477A>C	c.(475-477)caA>caC	p.Q159H	XKR9_ENST00000520030.1_Missense_Mutation_p.Q159H|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	159						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGCATGGACAAGCGAATTTCA	0.398													False	0	False	8:71619372	0	C	71619372	A	C	71619372	3	2	88	1	0	0	0	0	1	0	0	0	17522	69	3	4	483	4	XKR9	8	71619372	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66152	71619372	74744650	9139	16851											
XKR9	389668	broad.mit.edu	37	chr8	71646310	71646310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagttttgtacttgtataaGtatggaattcttatatagga	8	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71646310G>T	ENST00000408926.3	+	5	1307	c.773G>T	c.(772-774)aGt>aTt	p.S258I	XKR9_ENST00000520030.1_Missense_Mutation_p.S258I|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	258						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ACTTGTATAAGTATGGAATTC	0.274													False	0	False	8:71646310	0	T	71646310	G	T	71646310	3	4	88	1	0	0	0	0	1	0	0	0	17522	1029	36	3	783	3	XKR9	8	71646310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26938	71646310	74717712	9140	16852											
XKR9	389668	broad.mit.edu	37	chr8	71646532	71646532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agttcttactcttcttcttgGaattctttttcttattgttt	4	7	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71646532G>T	ENST00000408926.3	+	5	1529	c.995G>T	c.(994-996)gGa>gTa	p.G332V	XKR9_ENST00000520030.1_Missense_Mutation_p.G332V|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	332						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTTCTTCTTGGAATTCTTTTT	0.333													False	0	False	8:71646532	0	T	71646532	G	T	71646532	3	4	88	1	0	0	0	0	1	0	0	0	17522	1174	41	3	1005	3	XKR9	8	71646532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222	71646532	74717490	9141	16853											
EYA1	2138	broad.mit.edu	37	chr8	72128969	72128969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtagatctcttttacccGtctgtagcggaaggccaact	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72128969G>A	ENST00000340726.3	-	14	1957	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	EYA1_ENST00000388743.2_Missense_Mutation_p.R439W|EYA1_ENST00000388740.3_Missense_Mutation_p.R407W|EYA1_ENST00000303824.7_Missense_Mutation_p.R434W|EYA1_ENST00000388742.4_Missense_Mutation_p.R440W|EYA1_ENST00000388741.2_Missense_Mutation_p.R406W|EYA1_ENST00000419131.1_Missense_Mutation_p.R405W	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	440			R -> Q (in BOR1).		double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TCTTTTACCCGTCTGTAGCGG	0.463													False	0	True	8:72128969	0	A	72128969	G	A	72128969	3	1	88	1	0	0	0	0	1	0	0	0	5361	1144	40	1	480	1	EYA1	8	72128969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	482437	72128969	74235053	9142	16854											
EYA1	2138	broad.mit.edu	37	chr8	72184056	72184056	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggccccgtccacgtgatttCccatctgaacctcgacgcaa	8	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72184056C>T	ENST00000340726.3	-	10	1542	c.903G>A	c.(901-903)ggG>ggA	p.G301G	EYA1_ENST00000388743.2_Silent_p.G300G|EYA1_ENST00000388740.3_Silent_p.G268G|EYA1_ENST00000303824.7_Silent_p.G295G|EYA1_ENST00000388742.4_Silent_p.G301G|EYA1_ENST00000388741.2_Silent_p.G267G|EYA1_ENST00000419131.1_Silent_p.G296G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	301					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CACGTGATTTCCCATCTGAAC	0.468													False	0	True	8:72184056	0	T	72184056	C	T	72184056	2	4	88	1	0	0	0	0	0	0	0	1	5361	842	30	2		2	EYA1	8	72184056	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55087	72184056	74179966	9143	16855											
EYA1	2138	broad.mit.edu	37	chr8	72184084	72184084	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacctcgacgcaatcgatcaGaatctgaatctttaatgggt	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72184084G>T	ENST00000340726.3	-	10	1514	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	EYA1_ENST00000388743.2_Missense_Mutation_p.S291Y|EYA1_ENST00000388740.3_Missense_Mutation_p.S259Y|EYA1_ENST00000303824.7_Missense_Mutation_p.S286Y|EYA1_ENST00000388742.4_Missense_Mutation_p.S292Y|EYA1_ENST00000388741.2_Missense_Mutation_p.S258Y|EYA1_ENST00000419131.1_Missense_Mutation_p.S287Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	292					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CAATCGATCAGAATCTGAATC	0.463													False	0	False	8:72184084	0	T	72184084	G	T	72184084	3	4	88	1	0	0	0	0	1	0	0	0	5361	942	33	3	939	3	EYA1	8	72184084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	72184084	74179938	9144	16856											
MSC	9242	broad.mit.edu	37	chr8	72754977	72754977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcccgagaccacgaatggCcatgtctgtaaatcaaaaag	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72754977C>A	ENST00000325509.4	-	2	829	c.540G>T	c.(538-540)tgG>tgT	p.W180C	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	180					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCACGAATGGCCATGTCTGTA	0.473													False	0	False	8:72754977	0	A	72754977	C	A	72754977	3	1	88	1	0	0	0	0	1	0	0	0	9935	740	26	3	84	3	MSC	8	72754977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	570893	72754977	73609045	9145	16857											
MSC	9242	broad.mit.edu	37	chr8	72755888	72755888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgcccctaccaggttcaCtgggtgcacgtagccgttct	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72755888C>T	ENST00000325509.4	-	1	815	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	RP11-383H13.1_ENST00000524152.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Silent_p.H84H	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	176					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			ACCAGGTTCACTGGGTGCACG	0.657											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	8:72755888	0	T	72755888	C	T	72755888	3	4	88	1	0	0	0	0	1	0	0	0	9935	565	20	2	102	2	MSC	8	72755888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	911	72755888	73608134	9146	16858											
MSC	9242	broad.mit.edu	37	chr8	72756150	72756150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcttcttgccaccaccGcccgcgctaccacctgcgcc	10	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72756150G>A	ENST00000325509.4	-	1	553	c.264C>T	c.(262-264)ggC>ggT	p.G88G	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	88	Gly-rich.|Poly-Gly.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGCCACCACCGCCCGCGCTAC	0.741											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	8:72756150	0	A	72756150	G	A	72756150	2	1	88	1	0	0	0	0	0	0	0	1	9935	1074	38	1		1	MSC	8	72756150	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262	72756150	73607872	9147	16859											
TRPA1	8989	broad.mit.edu	37	chr8	72950237	72950237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttggaaaatttgccccGcttctttgcaatacccaaat	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72950237G>A	ENST00000262209.4	-	20	2573	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	789						integral to plasma membrane		p.A789V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATTTGCCCCGCTTCTTTGCA	0.274													False	0	True	8:72950237	0	A	72950237	G	A	72950237	3	1	88	1	0	0	0	0	1	0	0	0	16660	1087	38	1	1025	1	TRPA1	8	72950237	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194087	72950237	73413785	9148	16860											
KCNB2	9312	broad.mit.edu	37	chr8	73480440	73480440	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaactgaggcgagaggcagaGactatgcgagagcgagaagg	18	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73480440G>A	ENST00000523207.1	+	2	1059	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	157					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAGAGGCAGAGACTATGCGAG	0.458													False	0	False	8:73480440	0	A	73480440	G	A	73480440	2	1	88	1	0	0	0	0	0	0	0	1	8063	933	33	2		2	KCNB2	8	73480440	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	530203	73480440	72883582	9149	16861											
KCNB2	9312	broad.mit.edu	37	chr8	73848612	73848612	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attgggcttgttgatattgtTtctggccatggggataatga	13	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73848612T>G	ENST00000523207.1	+	3	1610	c.1022T>G	c.(1021-1023)tTt>tGt	p.F341C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	341					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTGATATTGTTTCTGGCCATG	0.468													False	0	True	8:73848612	0	G	73848612	T	G	73848612	3	3	88	1	0	0	0	0	1	0	0	0	8063	1841	64	4	1028	4	KCNB2	8	73848612	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	368172	73848612	72515410	9150	16862											
KCNB2	9312	broad.mit.edu	37	chr8	73848830	73848830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttattgcccttcctatcCcaattattgtgaacaatttt	5	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73848830C>T	ENST00000523207.1	+	3	1828	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	414					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCTTCCTATCCCAATTATTGT	0.443													False	0	True	8:73848830	0	T	73848830	C	T	73848830	3	4	88	1	0	0	0	0	1	0	0	0	8063	623	22	2	1246	2	KCNB2	8	73848830	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	73848830	72515192	9151	16863											
TERF1	7013	broad.mit.edu	37	chr8	73937081	73937083	+	In_Frame_Del	DEL	ATA	ATA	-													tcaaaagcaaattgcttatgAtaatctctcagaaagataca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	ATA	ATA	-	-	ATA	ATA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73937081_73937083delATA	ENST00000276602.6	+	5	672_674	c.649_651delATA	c.(649-651)atadel	p.I218del	TERF1_ENST00000276603.5_In_Frame_Del_p.I218del	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	218	TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			ATTGCTTATGATAATCTCTCAGA	0.286													False	1	False	8:73937081	0	-	73937083	ATA	-	73937081	7	5	88	1	0	1	0	1	0	0	0	0	15843	333	12	0	667	0	TERF1	8	73937081	In_Frame_Del	DEL	ATA	TCGA-IB-7651-01A-11D-2154-08	88251	73937081	72426941	9152	16864											
RDH10	157506	broad.mit.edu	37	chr8	74209428	74209428	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggacttctgaggacaGctgggaatggtgaggaagaa	15	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74209428G>A	ENST00000519380.1	+	0	178				RDH10_ENST00000240285.5_Splice_Site			Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)						retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TCTGAGGACAGCTGGGAATGG	0.478													False	0	False	8:74209428	0	A	74209428	G	A	74209428	1	1	88	1	0	0	0	0	0	0	0	0	13268	985	34	2		2	RDH10	8	74209428	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	272347	74209428	72154594	9153	16865											
RDH10	157506	broad.mit.edu	37	chr8	74234928	74234928	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcaggaaagaaattgagcCttttctgccacctctgaagc	8	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74234928C>A	ENST00000240285.5	+	5	1463	c.785C>A	c.(784-786)cCt>cAt	p.P262H	RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.P97H|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	262					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			GAAATTGAGCCTTTTCTGCCA	0.398													False	0	True	8:74234928	0	A	74234928	C	A	74234928	3	1	88	1	0	0	0	0	1	0	0	0	13268	681	24	3	803	3	RDH10	8	74234928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25500	74234928	72129094	9154	16866											
RDH10	157506	broad.mit.edu	37	chr8	74234997	74234997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatcctcactgaccagcCcatgatctgcactccccgcc	7	20	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74234997C>T	ENST00000240285.5	+	5	1532	c.854C>T	c.(853-855)cCc>cTc	p.P285L	RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.P120L|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	285					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			ACTGACCAGCCCATGATCTGC	0.517													False	0	True	8:74234997	0	T	74234997	C	T	74234997	3	4	88	1	0	0	0	0	1	0	0	0	13268	623	22	2	872	2	RDH10	8	74234997	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	74234997	72129025	9155	16867											
TCEB1	6921	broad.mit.edu	37	chr8	74859046	74859046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcattggtttcgttctcaGcaaactgacctgtaaaacaa	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74859046G>A	ENST00000518127.1	-	4	250	c.158C>T	c.(157-159)gCt>gTt	p.A53V	TCEB1_ENST00000520210.1_Missense_Mutation_p.A37V|TCEB1_ENST00000520242.1_Missense_Mutation_p.A53V|TCEB1_ENST00000284811.8_Missense_Mutation_p.A53V|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000519487.1_Missense_Mutation_p.A53V|TCEB1_ENST00000523815.1_Missense_Mutation_p.A53V|TCEB1_ENST00000522337.1_Missense_Mutation_p.A53V	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	53					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TTCGTTCTCAGCAAACTGACC	0.373													False	0	False	8:74859046	0	A	74859046	G	A	74859046	3	1	88	1	0	0	0	0	1	0	0	0	15761	971	34	2	184	2	TCEB1	8	74859046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	624049	74859046	71504976	9156	16868											
LY96	23643	broad.mit.edu	37	chr8	74922249	74922249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaaagggagagatttaaaGcaattatatttcaatctcta	6	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74922249G>T	ENST00000284818.2	+	3	307	c.216G>T	c.(214-216)aaG>aaT	p.K72N	LY96_ENST00000518893.1_Missense_Mutation_p.K42N	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	72					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GAGATTTAAAGCAATTATATT	0.318													False	0	True	8:74922249	0	T	74922249	G	T	74922249	3	4	88	1	0	0	0	0	1	0	0	0	9165	962	34	3	226	3	LY96	8	74922249	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63203	74922249	71441773	9157	16869											
JPH1	56704	broad.mit.edu	37	chr8	75227606	75227606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcccctccggaagaggCcgcccttcttcttgcccgct	12	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75227606C>T	ENST00000342232.4	-	2	669	c.629G>A	c.(628-630)gGc>gAc	p.G210D		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	210					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCGGAAGAGGCCGCCCTTCTT	0.657													False	0	False	8:75227606	0	T	75227606	C	T	75227606	3	4	88	1	0	0	0	0	1	0	0	0	8010	739	26	2	1372	2	JPH1	8	75227606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	305357	75227606	71136416	9158	16870											
GDAP1	54332	broad.mit.edu	37	chr8	75276322	75276322	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttcctggggtttgcaaggaGaaactggggaaacggaaagc	16	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75276322G>T	ENST00000220822.7	+	6	877	c.797G>T	c.(796-798)aGa>aTa	p.R266I	GDAP1_ENST00000434412.2_Missense_Mutation_p.R198I|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	266	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TTTGCAAGGAGAAACTGGGGA	0.478													False	0	True	8:75276322	0	T	75276322	G	T	75276322	3	4	88	1	0	0	0	0	1	0	0	0	6351	942	33	3	819	3	GDAP1	8	75276322	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48716	75276322	71087700	9159	16871											
PI15	51050	broad.mit.edu	37	chr8	75756308	75756308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttactgagatttttgggCcaaaatctatctgtacgcac	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75756308C>T	ENST00000260113.2	+	3	545	c.366C>T	c.(364-366)ggC>ggT	p.G122G	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Silent_p.G122G|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	122						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GATTTTTGGGCCAAAATCTAT	0.438													False	0	True	8:75756308	0	T	75756308	C	T	75756308	2	4	88	1	0	0	0	0	0	0	0	1	11937	726	26	2		2	PI15	8	75756308	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	479986	75756308	70607714	9160	16872											
CRISPLD1	83690	broad.mit.edu	37	chr8	75898234	75898234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattcattatgaagtgtacCgcgcgggagtggctcagagt	13	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75898234C>T	ENST00000262207.4	+	2	480	c.12C>T	c.(10-12)acC>acT	p.T4T	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	4						extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGAAGTGTACCGCGCGGGAGT	0.463													False	0	True	8:75898234	0	T	75898234	C	T	75898234	2	4	88	1	0	0	0	0	0	0	0	1	3905	639	23	1		1	CRISPLD1	8	75898234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141926	75898234	70465788	9161	16873											
HNF4G	3174	broad.mit.edu	37	chr8	76452232	76452232	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaccaatactggacatggAcatggcaaattacagtgaag	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:76452232A>G	ENST00000396423.2	+	1	129	c.5A>G	c.(4-6)gAc>gGc	p.D2G	HNF4G_ENST00000354370.1_Intron	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	0					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CTGGACATGGACATGGCAAAT	0.393													False	0	True	8:76452232	0	G	76452232	A	G	76452232	3	3	88	1	0	0	0	0	1	0	0	0	7301	275	10	4	7	4	HNF4G	8	76452232	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	553998	76452232	69911790	9162	16874											
HNF4G	3174	broad.mit.edu	37	chr8	76465367	76465367	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatctatgaaacagcagCtcttagtcttggtggaatgg	12	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:76465367C>A	ENST00000396423.2	+	5	674	c.550C>A	c.(550-552)Ctc>Atc	p.L184I	HNF4G_ENST00000354370.1_Missense_Mutation_p.L147I	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	147					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GAAACAGCAGCTCTTAGTCTT	0.358													False	0	False	8:76465367	0	A	76465367	C	A	76465367	3	1	88	1	0	0	0	0	1	0	0	0	7301	797	28	3	568	3	HNF4G	8	76465367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13135	76465367	69898655	9163	16875											
ZFHX4	79776	broad.mit.edu	37	chr8	77616625	77616625	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacatggaacaccactgccCtaatgcccgccttcctgtcc	6	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77616625C>A	ENST00000521891.2	+	2	750	c.302C>A	c.(301-303)cCt>cAt	p.P101H	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P101H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P101H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P101H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCACTGCCCTAATGCCCGC	0.498										HNSCC(33;0.089)			False	0	True	8:77616625	0	A	77616625	C	A	77616625	3	1	88	1	0	0	0	0	1	0	0	0	17718	681	24	3	304	3	ZFHX4	8	77616625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1151258	77616625	68747397	9164	16876											
ZFHX4	79776	broad.mit.edu	37	chr8	77618294	77618294	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcactacaaatatcagcaGaccctggaggcccatatgaa	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77618294G>T	ENST00000521891.2	+	2	2419	c.1971G>T	c.(1969-1971)caG>caT	p.Q657H	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q657H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q657H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q657H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	657						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATATCAGCAGACCCTGGAGG	0.507										HNSCC(33;0.089)			False	0	False	8:77618294	0	T	77618294	G	T	77618294	3	4	88	1	0	0	0	0	1	0	0	0	17718	933	33	3	1973	3	ZFHX4	8	77618294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1669	77618294	68745728	9165	16877											
ZFHX4	79776	broad.mit.edu	37	chr8	77618747	77618747	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaagcagatccagcataaTctgcacttgggcctcgcccc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77618747T>C	ENST00000521891.2	+	2	2872	c.2424T>C	c.(2422-2424)aaT>aaC	p.N808N	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.N808N|ZFHX4_ENST00000455469.2_Silent_p.N808N|ZFHX4_ENST00000050961.6_Silent_p.N808N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	808						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCAGCATAATCTGCACTTGG	0.507										HNSCC(33;0.089)			False	0	False	8:77618747	0	C	77618747	T	C	77618747	2	2	88	1	0	0	0	0	0	0	0	1	17718	1432	50	4		4	ZFHX4	8	77618747	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	453	77618747	68745275	9166	16878											
ZFHX4	79776	broad.mit.edu	37	chr8	77762534	77762534	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgctactgccagcagctgcCtctgagaaatcagagcggga	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77762534C>A	ENST00000521891.2	+	9	4348	c.3900C>A	c.(3898-3900)gcC>gcA	p.A1300A	ZFHX4_ENST00000518282.1_Silent_p.A1274A|ZFHX4_ENST00000455469.2_Silent_p.A1255A|ZFHX4_ENST00000050961.6_Silent_p.A1255A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1255						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCAGCTGCCTCTGAGAAAT	0.478										HNSCC(33;0.089)			False	0	False	8:77762534	0	A	77762534	C	A	77762534	2	1	88	1	0	0	0	0	0	0	0	1	17718	668	24	3		3	ZFHX4	8	77762534	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143787	77762534	68601488	9167	16879											
ZFHX4	79776	broad.mit.edu	37	chr8	77763508	77763508	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaagcaggccaccctgaaCtgagtgaagctgaacttcaa	11	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77763508C>A	ENST00000521891.2	+	10	4799	c.4351C>A	c.(4351-4353)Ctg>Atg	p.L1451M	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1425M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1406M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1406M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1406						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCACCCTGAACTGAGTGAAGC	0.502										HNSCC(33;0.089)			False	0	False	8:77763508	0	A	77763508	C	A	77763508	3	1	88	1	0	0	0	0	1	0	0	0	17718	564	20	3	4385	3	ZFHX4	8	77763508	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	974	77763508	68600514	9168	16880											
ZFHX4	79776	broad.mit.edu	37	chr8	77764149	77764149	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacagcaaagatacccaTttagatgccaaagaattaaa	6	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77764149T>A	ENST00000521891.2	+	10	5440	c.4992T>A	c.(4990-4992)caT>caA	p.H1664Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1638Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1619Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1619Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1619	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGATACCCATTTAGATGCCA	0.448										HNSCC(33;0.089)			False	0	True	8:77764149	0	A	77764149	T	A	77764149	3	1	88	1	0	0	0	0	1	0	0	0	17718	1490	52	5	5026	5	ZFHX4	8	77764149	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	641	77764149	68599873	9169	16881											
ZFHX4	79776	broad.mit.edu	37	chr8	77764883	77764883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggggccagaggaaatgctgCcaaagcgttattggaaaact	13	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77764883C>A	ENST00000521891.2	+	10	6174	c.5726C>A	c.(5725-5727)gCc>gAc	p.A1909D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1883D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1864D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1864D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1864						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAAATGCTGCCAAAGCGTTA	0.458										HNSCC(33;0.089)			False	0	False	8:77764883	0	A	77764883	C	A	77764883	3	1	88	1	0	0	0	0	1	0	0	0	17718	739	26	3	5760	3	ZFHX4	8	77764883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	734	77764883	68599139	9170	16882											
ZFHX4	79776	broad.mit.edu	37	chr8	77766811	77766811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctgatgactggacaactgCtgggcagttccctcactcaa	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77766811C>A	ENST00000521891.2	+	10	8102	c.7654C>A	c.(7654-7656)Ctg>Atg	p.L2552M	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2526M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2507M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2507M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2507						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGACAACTGCTGGGCAGTTC	0.517										HNSCC(33;0.089)			False	0	False	8:77766811	0	A	77766811	C	A	77766811	3	1	88	1	0	0	0	0	1	0	0	0	17718	796	28	3	7688	3	ZFHX4	8	77766811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1928	77766811	68597211	9171	16883											
ZFHX4	79776	broad.mit.edu	37	chr8	77768068	77768068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagattggtctgcccaaaCgcgtagtccaggtgtggttc	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77768068C>T	ENST00000521891.2	+	10	9359	c.8911C>T	c.(8911-8913)Cgc>Tgc	p.R2971C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2945C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2926C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2926C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2926						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2955C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGCCCAAACGCGTAGTCCA	0.433										HNSCC(33;0.089)			False	0	True	8:77768068	0	T	77768068	C	T	77768068	3	4	88	1	0	0	0	0	1	0	0	0	17718	536	19	1	8945	1	ZFHX4	8	77768068	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1257	77768068	68595954	9172	16884											
IL7	3574	broad.mit.edu	37	chr8	79652256	79652256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttattagcatcacagataTgtcttttaaaaaagttaaat	4	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:79652256T>C	ENST00000263851.4	-	3	809	c.209A>G	c.(208-210)cAt>cGt	p.H70R	IL7_ENST00000519833.1_5'UTR|IL7_ENST00000541183.1_Missense_Mutation_p.H19R|IL7_ENST00000520269.1_Missense_Mutation_p.H70R	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	70					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						ATCACAGATATGTCTTTTAAA	0.274													False	0	False	8:79652256	0	C	79652256	T	C	79652256	3	2	88	1	0	0	0	0	1	0	0	0	7754	1464	51	4	340	4	IL7	8	79652256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1884188	79652256	66711766	9173	16885											
STMN2	11075	broad.mit.edu	37	chr8	80549083	80549083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgctgtcactgatctgCtcttgcttttacccggaacc	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:80549083C>T	ENST00000220876.7	+	2	448	c.66C>T	c.(64-66)tgC>tgT	p.C22C	STMN2_ENST00000518111.1_Silent_p.C22C|STMN2_ENST00000518491.1_Silent_p.C11C	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	22	Membrane attachment (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CACTGATCTGCTCTTGCTTTT	0.393													False	0	False	8:80549083	0	T	80549083	C	T	80549083	2	4	88	1	0	0	0	0	0	0	0	1	15391	805	28	2		2	STMN2	8	80549083	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	896827	80549083	65814939	9174	16886											
ZNF704	619279	broad.mit.edu	37	chr8	81599496	81599496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgggctcgtcgaagagcaGgttgctggcctccgcctcgt	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:81599496G>A	ENST00000327835.3	-	4	754	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	175						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCGAAGAGCAGGTTGCTGGCC	0.632											OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	8:81599496	0	A	81599496	G	A	81599496	2	1	88	1	0	0	0	0	0	0	0	1	18190	991	35	2		2	ZNF704	8	81599496	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1050413	81599496	64764526	9175	16887											
PAG1	55824	broad.mit.edu	37	chr8	81889134	81889134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatttactgatgagtacataGctgagatctaggagacaaag	10	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:81889134G>T	ENST00000220597.4	-	9	1654	c.944C>A	c.(943-945)gCt>gAt	p.A315D		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	315					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TGAGTACATAGCTGAGATCTA	0.473													False	0	False	8:81889134	0	T	81889134	G	T	81889134	3	4	88	1	0	0	0	0	1	0	0	0	11456	971	34	3	358	3	PAG1	8	81889134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	289638	81889134	64474888	9176	16888											
FABP9	646480	broad.mit.edu	37	chr8	82370890	82370890	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattgttgtctctttgccaaGccatttttggacgtgaatca	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82370890G>T	ENST00000379071.2	-	3	350	c.295C>A	c.(295-297)Ctt>Att	p.L99I	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	99							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TCTTTGCCAAGCCATTTTTGG	0.328													False	0	False	8:82370890	0	T	82370890	G	T	82370890	3	4	88	1	0	0	0	0	1	0	0	0	5399	971	34	3	110	3	FABP9	8	82370890	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	481756	82370890	63993132	9177	16889											
FABP4	2167	broad.mit.edu	37	chr8	82391667	82391667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaccaccagtttatcatcCtctcgttttctctttatggt	4	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82391667C>A	ENST00000256104.4	-	3	425	c.330G>T	c.(328-330)gaG>gaT	p.E110D	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	110					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GTTTATCATCCTCTCGTTTTC	0.403													False	0	False	8:82391667	0	A	82391667	C	A	82391667	3	1	88	1	0	0	0	0	1	0	0	0	5395	680	24	3	76	3	FABP4	8	82391667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20777	82391667	63972355	9178	16890											
SLC10A5	347051	broad.mit.edu	37	chr8	82606167	82606167	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggagtacccaaacagcaaAcccaaagcaggaactaagag	9	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606167A>G	ENST00000518568.1	-	1	2242	c.1041T>C	c.(1039-1041)ggT>ggC	p.G347G		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	347						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAACAGCAAACCCAAAGCAG	0.383													False	0	True	8:82606167	0	G	82606167	A	G	82606167	2	3	88	1	0	0	0	0	0	0	0	1	14458	30	2	4		4	SLC10A5	8	82606167	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	214500	82606167	63757855	9179	16891											
SLC10A5	347051	broad.mit.edu	37	chr8	82606769	82606769	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatagtattagtggtaaaaTaagcattaggatatttctat	7	3	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606769T>C	ENST00000518568.1	-	1	1640	c.439A>G	c.(439-441)Att>Gtt	p.I147V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	147						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AGTGGTAAAATAAGCATTAGG	0.343													False	0	True	8:82606769	0	C	82606769	T	C	82606769	3	2	88	1	0	0	0	0	1	0	0	0	14458	1406	49	4	879	4	SLC10A5	8	82606769	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	602	82606769	63757253	9180	16892											
SLC10A5	347051	broad.mit.edu	37	chr8	82606840	82606840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgtttgagcactttgActttcacattcttgatttct	5	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606840A>G	ENST00000518568.1	-	1	1569	c.368T>C	c.(367-369)gTc>gCc	p.V123A		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	123						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GAGCACTTTGACTTTCACATT	0.358													False	0	False	8:82606840	0	G	82606840	A	G	82606840	3	3	88	1	0	0	0	0	1	0	0	0	14458	275	10	4	950	4	SLC10A5	8	82606840	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71	82606840	63757182	9181	16893											
SNX16	64089	broad.mit.edu	37	chr8	82714673	82714673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaggactccacctttaGgatctgttcaccttctgttt	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82714673G>A	ENST00000396330.2	-	8	1386	c.880C>T	c.(880-882)Cta>Tta	p.L294L	RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000345957.4_Silent_p.L294L|SNX16_ENST00000353788.4_Silent_p.L265L	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	294					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						TCCACCTTTAGGATCTGTTCA	0.338													False	0	False	8:82714673	0	A	82714673	G	A	82714673	2	1	88	1	0	0	0	0	0	0	0	1	14967	991	35	2		2	SNX16	8	82714673	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107833	82714673	63649349	9182	16894											
LRRCC1	85444	broad.mit.edu	37	chr8	86042165	86042165	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttactcagataagactgatCcaagaggtggaactcaaagc	9	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86042165C>A	ENST00000414626.2	+	10	2467	c.1578C>A	c.(1576-1578)atC>atA	p.I526I	LRRCC1_ENST00000360375.3_Silent_p.I546I			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	546					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TAAGACTGATCCAAGAGGTGG	0.363													False	0	False	8:86042165	0	A	86042165	C	A	86042165	2	1	88	1	0	0	0	0	0	0	0	1	9088	845	30	3		3	LRRCC1	8	86042165	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3327492	86042165	60321857	9183	16895											
LRRCC1	85444	broad.mit.edu	37	chr8	86042196	86042196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactcaaagcttcagctgccGatagagaaatatacttactt	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86042196G>A	ENST00000414626.2	+	10	2498	c.1609G>A	c.(1609-1611)Gat>Aat	p.D537N	LRRCC1_ENST00000360375.3_Missense_Mutation_p.D557N			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	557					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTCAGCTGCCGATAGAGAAAT	0.373													False	0	False	8:86042196	0	A	86042196	G	A	86042196	3	1	88	1	0	0	0	0	1	0	0	0	9088	1058	37	1	1711	1	LRRCC1	8	86042196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	86042196	60321826	9184	16896											
E2F5	1875	broad.mit.edu	37	chr8	86115389	86115389	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agattaagatatcttaaagcTgaaattgaagatctagaact	7	4	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86115389T>C	ENST00000418930.2	+	3	601	c.405T>C	c.(403-405)gcT>gcC	p.A135A	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000416274.2_Silent_p.A135A|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Silent_p.A135A|E2F5_ENST00000517476.1_5'UTR			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	135	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATCTTAAAGCTGAAATTGAAG	0.338													False	0	False	8:86115389	0	C	86115389	T	C	86115389	2	2	88	1	0	0	0	0	0	0	0	1	4900	1567	55	4		4	E2F5	8	86115389	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	73193	86115389	60248633	9185	16897											
E2F5	1875	broad.mit.edu	37	chr8	86115478	86115478	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaaaatgtgatggacgattCcattaataatagatatcctt	6	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86115478C>A	ENST00000418930.2	+	3	690	c.494C>A	c.(493-495)tCc>tAc	p.S165Y	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000416274.2_Missense_Mutation_p.S165Y|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.S165Y|E2F5_ENST00000517476.1_Missense_Mutation_p.S4Y			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	165	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATGGACGATTCCATTAATAAT	0.303													False	0	False	8:86115478	0	A	86115478	C	A	86115478	3	1	88	1	0	0	0	0	1	0	0	0	4900	855	30	3	504	3	E2F5	8	86115478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89	86115478	60248544	9186	16898											
E2F5	1875	broad.mit.edu	37	chr8	86121474	86121474	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagtcgagttcatctaagcCcgtggtttttcctgttcccc	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86121474C>A	ENST00000418930.2	+	6	909	c.713C>A	c.(712-714)cCc>cAc	p.P238H	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000416274.2_Missense_Mutation_p.P238H|E2F5_ENST00000521429.1_Missense_Mutation_p.P65H|E2F5_ENST00000256117.5_Missense_Mutation_p.P239H|E2F5_ENST00000517476.1_Missense_Mutation_p.P77H			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	238					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TCATCTAAGCCCGTGGTTTTT	0.453													False	0	True	8:86121474	0	A	86121474	C	A	86121474	3	1	88	1	0	0	0	0	1	0	0	0	4900	623	22	3	735	3	E2F5	8	86121474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5996	86121474	60242548	9187	16899											
E2F5	1875	broad.mit.edu	37	chr8	86121509	86121509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcccccacctgatgacctcAcacagccttcctcccagtcc	4	21	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86121509A>G	ENST00000418930.2	+	6	944	c.748A>G	c.(748-750)Aca>Gca	p.T250A	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000416274.2_Missense_Mutation_p.T250A|E2F5_ENST00000521429.1_Missense_Mutation_p.T77A|E2F5_ENST00000256117.5_Missense_Mutation_p.T251A|E2F5_ENST00000517476.1_Missense_Mutation_p.T89A			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	250					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TGATGACCTCACACAGCCTTC	0.483													False	0	True	8:86121509	0	G	86121509	A	G	86121509	3	3	88	1	0	0	0	0	1	0	0	0	4900	159	6	4	770	4	E2F5	8	86121509	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35	86121509	60242513	9188	16900											
C8orf59	401466	broad.mit.edu	37	chr8	86127224	86127224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttgtacatttacaaaagCtttatttactctgttaactt	3	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86127224C>A	ENST00000417663.2	-	3	228	c.157G>T	c.(157-159)Gct>Tct	p.A53S	C8orf59_ENST00000518091.1_Missense_Mutation_p.A53S|C8orf59_ENST00000431163.2_Intron|C8orf59_ENST00000518562.1_Intron|E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000421308.2_Missense_Mutation_p.A53S|C8orf59_ENST00000458398.2_Missense_Mutation_p.A53S|C8orf59_ENST00000524353.1_Missense_Mutation_p.A53S	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	53																	TTTACAAAAGCTTTATTTACT	0.279													False	0	True	8:86127224	0	A	86127224	C	A	86127224	3	1	88	1	0	0	0	0	1	0	0	0	2454	797	28	3	147	3	C8orf59	8	86127224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5715	86127224	60236798	9189	16901											
CA3	761	broad.mit.edu	37	chr8	86352068	86352068	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgtcttatgatggtggCtctgccaagaccatcctgaa	10	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86352068C>A	ENST00000285381.2	+	2	245	c.162C>A	c.(160-162)ggC>ggA	p.G54G		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	54					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATGATGGTGGCTCTGCCAAGA	0.463													False	0	False	8:86352068	0	A	86352068	C	A	86352068	2	1	88	1	0	0	0	0	0	0	0	1	2537	784	28	3		3	CA3	8	86352068	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224844	86352068	60011954	9190	16902											
SLC7A13	157724	broad.mit.edu	37	chr8	87229945	87229945	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgcaagatatattggtctCgatgatttaaatatagaaat	7	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87229945C>T	ENST00000297524.3	-	3	1036	c.933G>A	c.(931-933)tcG>tcA	p.S311S	SLC7A13_ENST00000419776.2_Silent_p.S302S|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	311						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATATTGGTCTCGATGATTTAA	0.388													False	0	False	8:87229945	0	T	87229945	C	T	87229945	2	4	88	1	0	0	0	0	0	0	0	1	14775	871	31	1		1	SLC7A13	8	87229945	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	877877	87229945	59134077	9191	16903											
SLC7A13	157724	broad.mit.edu	37	chr8	87242497	87242497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagctgtattttctcccCtctatccattgtaattgaag	6	10	2	2	rs146811954	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87242497C>T	ENST00000297524.3	-	1	113	c.10G>A	c.(10-12)Ggg>Agg	p.G4R	SLC7A13_ENST00000419776.2_Missense_Mutation_p.G4R|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	4						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTTTCTCCCCTCTATCCATT	0.358													False	0	True	8:87242497	0	T	87242497	C	T	87242497	3	4	88	1	0	0	0	0	1	0	0	0	14775	681	24	2	1418	2	SLC7A13	8	87242497	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12552	87242497	59121525	9192	16904											
WWP1	11059	broad.mit.edu	37	chr8	87393071	87393071	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtagttcttctaatccaAaatgggatgaacagctaact	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87393071A>C	ENST00000517970.1	+	4	494	c.187A>C	c.(187-189)Aaa>Caa	p.K63Q	WWP1_ENST00000341922.2_Missense_Mutation_p.K63Q|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000265428.4_Missense_Mutation_p.K63Q|WWP1_ENST00000523863.1_3'UTR	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	63	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTCTAATCCAAAATGGGATGA	0.318													False	0	True	8:87393071	0	C	87393071	A	C	87393071	3	2	88	1	0	0	0	0	1	0	0	0	17499	15	1	4	193	4	WWP1	8	87393071	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150574	87393071	58970951	9193	16905											
CPNE3	8895	broad.mit.edu	37	chr8	87549859	87549859	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgatggaaactggctaatGgttcatcggacagaggtgaa	13	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87549859G>T	ENST00000521271.1	+	7	690	c.528G>T	c.(526-528)atG>atT	p.M176I	CPNE3_ENST00000198765.4_Missense_Mutation_p.M176I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	176	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ACTGGCTAATGGTTCATCGGA	0.328													False	0	False	8:87549859	0	T	87549859	G	T	87549859	3	4	88	1	0	0	0	0	1	0	0	0	3836	1348	47	3	546	3	CPNE3	8	87549859	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156788	87549859	58814163	9194	16906											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885634	88885634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggatgctcagggaccagGcacaggaccaggcatcaggg	16	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:88885634G>A	ENST00000319675.3	-	1	662	c.566C>T	c.(565-567)gCc>gTc	p.A189V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	189										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGGGACCAGGCACAGGACCA	0.582													False	0	False	8:88885634	0	A	88885634	G	A	88885634	3	1	88	1	0	0	0	0	1	0	0	0	4297	1203	42	2	625	2	DCAF4L2	8	88885634	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1335775	88885634	57478388	9195	16907											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885789	88885789	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagaaggtgggaatccaaGtgattcagtgaggcccagca	14	8	1	3	rs118036816		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:88885789G>T	ENST00000319675.3	-	1	507	c.411C>A	c.(409-411)caC>caA	p.H137Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	137										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGGAATCCAAGTGATTCAGTG	0.562													False	0	False	8:88885789	0	T	88885789	G	T	88885789	3	4	88	1	0	0	0	0	1	0	0	0	4297	1020	36	3	780	3	DCAF4L2	8	88885789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155	88885789	57478233	9196	16908											
MMP16	4325	broad.mit.edu	37	chr8	89054008	89054008	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaatactcctttcctttgTagaaatacgtaaagcctagg	6	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:89054008T>G	ENST00000286614.6	-	10	1786	c.1505A>C	c.(1504-1506)tAc>tCc	p.Y502S		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	502	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CTTTCCTTTGTAGAAATACGT	0.388													False	0	False	8:89054008	0	G	89054008	T	G	89054008	3	3	88	1	0	0	0	0	1	0	0	0	9722	1638	57	4	322	4	MMP16	8	89054008	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	168219	89054008	57310014	9197	16909											
OSGIN2	734	broad.mit.edu	37	chr8	90936852	90936852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acataacttccgtatcaagaCtctacagagatcaagatgat	6	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:90936852C>T	ENST00000451899.2	+	6	1002	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	OSGIN2_ENST00000297438.2_Missense_Mutation_p.L204F	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	204					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CGTATCAAGACTCTACAGAGA	0.338													False	0	False	8:90936852	0	T	90936852	C	T	90936852	3	4	88	1	0	0	0	0	1	0	0	0	11358	565	20	2	764	2	OSGIN2	8	90936852	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1882844	90936852	55427170	9198	16910											
NBN	4683	broad.mit.edu	37	chr8	90965920	90965920	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattttcttcatccctttccCttagatttaaaaaaaaagaa	3	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:90965920C>A	ENST00000265433.3	-	11	1552		c.e11-1		NBN_ENST00000409330.1_Splice_Site	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin						cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATCCCTTTCCCTTAGATTTAA	0.338								Homologous recombination					False	0	True	8:90965920	0	A	90965920	C	A	90965920	5	1	88	1	0	0	0	0	0	0	1	0	10258	695	24	3	891	3	NBN	8	90965920	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29068	90965920	55398102	9199	16911											
DECR1	1666	broad.mit.edu	37	chr8	91033242	91033242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaaatggcacagccttcGtgacactagaaattggaaaa	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91033242G>A	ENST00000522161.1	+	7	1179	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	DECR1_ENST00000220764.2_Missense_Mutation_p.V175M|DECR1_ENST00000519007.1_3'UTR			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	175					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CACAGCCTTCGTGACACTAGA	0.363													False	0	False	8:91033242	0	A	91033242	G	A	91033242	3	1	88	1	0	0	0	0	1	0	0	0	4407	1145	40	1	541	1	DECR1	8	91033242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67322	91033242	55330780	9200	16912											
TMEM64	169200	broad.mit.edu	37	chr8	91637980	91637980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactggtatttggttgattGcctttaaccagagaagattt	9	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91637980G>A	ENST00000458549.2	-	3	1239	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	TMEM64_ENST00000519519.1_Silent_p.G93G|TMEM64_ENST00000418210.2_Silent_p.G302G	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	354						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TTGGTTGATTGCCTTTAACCA	0.388													False	0	False	8:91637980	0	A	91637980	G	A	91637980	2	1	88	1	0	0	0	0	0	0	0	1	16275	1306	46	2		2	TMEM64	8	91637980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	604738	91637980	54726042	9201	16913											
TMEM64	169200	broad.mit.edu	37	chr8	91657382	91657382	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caaaaggtatgggtgtcagtCtggccagcgccaccactttc	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91657382C>T	ENST00000458549.2	-	1	929	c.752G>A	c.(751-753)aGa>aAa	p.R251K	TMEM64_ENST00000519519.1_Intron|TMEM64_ENST00000418210.2_Missense_Mutation_p.R251K	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	251						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			GGGTGTCAGTCTGGCCAGCGC	0.592											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	8:91657382	0	T	91657382	C	T	91657382	3	4	88	1	0	0	0	0	1	0	0	0	16275	913	32	2	402	2	TMEM64	8	91657382	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19402	91657382	54706640	9202	16914											
TMEM64	169200	broad.mit.edu	37	chr8	91657411	91657411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaccactttcaggccgctTcctccctccactacgcgaat	6	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91657411T>C	ENST00000458549.2	-	1	900	c.723A>G	c.(721-723)ggA>ggG	p.G241G	TMEM64_ENST00000519519.1_Intron|TMEM64_ENST00000418210.2_Silent_p.G241G	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	241						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TCAGGCCGCTTCCTCCCTCCA	0.617											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	8:91657411	0	C	91657411	T	C	91657411	2	2	88	1	0	0	0	0	0	0	0	1	16275	1770	62	4		4	TMEM64	8	91657411	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29	91657411	54706611	9203	16915											
TMEM55A	55529	broad.mit.edu	37	chr8	92033488	92033488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatctccacttaccgtaGcttcattgcaaactgtgcac	7	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92033488G>A	ENST00000285419.3	-	2	565	c.251C>T	c.(250-252)gCt>gTt	p.A84V		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	84						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ACTTACCGTAGCTTCATTGCA	0.343													False	0	False	8:92033488	0	A	92033488	G	A	92033488	3	1	88	1	0	0	0	0	1	0	0	0	16263	971	34	2	546	2	TMEM55A	8	92033488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	376077	92033488	54330534	9204	16916											
SLC26A7	115111	broad.mit.edu	37	chr8	92350382	92350382	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatggaaccacacagattaTtgctgcatcatttgcttgtt	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92350382T>G	ENST00000276609.3	+	7	1039	c.800T>G	c.(799-801)aTt>aGt	p.I267S	SLC26A7_ENST00000523719.1_Missense_Mutation_p.I267S|SLC26A7_ENST00000309536.2_Missense_Mutation_p.I267S	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	267						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACACAGATTATTGCTGCATCA	0.303													False	0	False	8:92350382	0	G	92350382	T	G	92350382	3	3	88	1	0	0	0	0	1	0	0	0	14602	1493	52	4	822	4	SLC26A7	8	92350382	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	316894	92350382	54013640	9205	16917											
FAM92A1	137392	broad.mit.edu	37	chr8	94713675	94713675	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgccaaacttcaggattatCgacaagcagaggtatggagt	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94713675C>T	ENST00000518322.1	+	2	391	c.250C>T	c.(250-252)Cga>Tga	p.R84*	FAM92A1_ENST00000522324.1_Nonsense_Mutation_p.R84*|FAM92A1_ENST00000423990.2_Nonsense_Mutation_p.R84*	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	84										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCAGGATTATCGACAAGCAGA	0.443													False	0	False	8:94713675	0	T	94713675	C	T	94713675	4	4	88	1	0	0	0	0	0	1	0	0	5692	876	31	1	256	1	FAM92A1	8	94713675	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2363293	94713675	51650347	9206	16918											
TMEM67	91147	broad.mit.edu	37	chr8	94800075	94800075	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattttcttttaaatagtgtCcaccttgtacccaacacaat	3	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94800075C>T	ENST00000453321.3	+	14	1474	c.1416C>T	c.(1414-1416)gtC>gtT	p.V472V	TMEM67_ENST00000409623.3_Silent_p.V391V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	472					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TAAATAGTGTCCACCTTGTAC	0.343													False	0	False	8:94800075	0	T	94800075	C	T	94800075	2	4	88	1	0	0	0	0	0	0	0	1	16278	842	30	2		2	TMEM67	8	94800075	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86400	94800075	51563947	9207	16919											
PDP1	54704	broad.mit.edu	37	chr8	94935002	94935002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaaggaggctctaattaatGccttcaagaggcttgataat	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94935002G>T	ENST00000396200.3	+	3	1066	c.790G>T	c.(790-792)Gcc>Tcc	p.A264S	PDP1_ENST00000520728.1_Missense_Mutation_p.A239S|PDP1_ENST00000517764.1_Missense_Mutation_p.A239S|PDP1_ENST00000297598.4_Missense_Mutation_p.A239S	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	239					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TCTAATTAATGCCTTCAAGAG	0.433													False	0	True	8:94935002	0	T	94935002	G	T	94935002	3	4	88	1	0	0	0	0	1	0	0	0	11753	1319	46	3	898	3	PDP1	8	94935002	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134927	94935002	51429020	9208	16920											
PDP1	54704	broad.mit.edu	37	chr8	94935883	94935883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattctcatgttgtaggggcGtatcaaaaccaagaatagtg	10	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94935883G>A	ENST00000396200.3	+	3	1947	c.1671G>A	c.(1669-1671)gcG>gcA	p.A557A	PDP1_ENST00000520728.1_Silent_p.A532A|PDP1_ENST00000517764.1_Silent_p.A532A|PDP1_ENST00000297598.4_Silent_p.A532A	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	532					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTGTAGGGGCGTATCAAAACC	0.353													False	0	False	8:94935883	0	A	94935883	G	A	94935883	2	1	88	1	0	0	0	0	0	0	0	1	11753	1132	40	1		1	PDP1	8	94935883	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	881	94935883	51428139	9209	16921											
CDH17	1015	broad.mit.edu	37	chr8	95182635	95182635	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttcttacccagtcgttcAttctcctggacctcaaatac	4	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95182635A>G	ENST00000027335.3	-	9	1180	c.1056T>C	c.(1054-1056)aaT>aaC	p.N352N	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.N352N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	352	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCAGTCGTTCATTCTCCTGGA	0.443													False	0	False	8:95182635	0	G	95182635	A	G	95182635	2	3	88	1	0	0	0	0	0	0	0	1	3125	214	8	4		4	CDH17	8	95182635	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	246752	95182635	51181387	9210	16922											
CDH17	1015	broad.mit.edu	37	chr8	95189834	95189834	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctggagattgtgagtagatCttgtttccctgtccaaggct	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95189834C>A	ENST00000027335.3	-	4	390	c.266G>T	c.(265-267)aGa>aTa	p.R89I	CDH17_ENST00000441892.2_Missense_Mutation_p.R89I|CDH17_ENST00000450165.2_Missense_Mutation_p.R89I	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	89	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTGAGTAGATCTTGTTTCCCT	0.463													False	0	False	8:95189834	0	A	95189834	C	A	95189834	3	1	88	1	0	0	0	0	1	0	0	0	3125	913	32	3	2292	3	CDH17	8	95189834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7199	95189834	51174188	9211	16923											
RAD54B	25788	broad.mit.edu	37	chr8	95390544	95390544	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagatgtcttggtgaggtcGacaactgccccacaaagacc	10	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95390544G>A	ENST00000336148.5	-	14	2503	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TGGTGAGGTCGACAACTGCCC	0.353								Direct reversal of damage;Homologous recombination					False	0	False	8:95390544	0	A	95390544	G	A	95390544	2	1	88	1	0	0	0	0	0	0	0	1	13071	1045	37	1		1	RAD54B	8	95390544	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200710	95390544	50973478	9212	16924											
DPY19L4	286148	broad.mit.edu	37	chr8	95802019	95802019	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacctactcaaaatatgggCgattttgtcatgaggtcaaa	8	7	3	1	rs145854417	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95802019C>T	ENST00000414645.2	+	19	2152	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	685						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AAAATATGGGCGATTTTGTCA	0.294													False	0	True	8:95802019	0	T	95802019	C	T	95802019	4	4	88	1	0	0	0	0	0	1	0	0	4773	760	27	1	2127	1	DPY19L4	8	95802019	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	411475	95802019	50562003	9213	16925											
INTS8	55656	broad.mit.edu	37	chr8	95869141	95869141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagctgggacagggcaggCaggagagagaccgccatccg	17	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95869141C>T	ENST00000523731.1	+	15	2022	c.1889C>T	c.(1888-1890)gCa>gTa	p.A630V	INTS8_ENST00000447247.1_Missense_Mutation_p.A630V|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	630					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACAGGGCAGGCAGGAGAGAGA	0.468													False	0	True	8:95869141	0	T	95869141	C	T	95869141	3	4	88	1	0	0	0	0	1	0	0	0	7834	710	25	2	1947	2	INTS8	8	95869141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67122	95869141	50494881	9214	16926											
INTS8	55656	broad.mit.edu	37	chr8	95871751	95871751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttagatattcctcttcGtcaagttatagctgaggaat	7	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95871751G>A	ENST00000523731.1	+	16	2100	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H	INTS8_ENST00000447247.1_Missense_Mutation_p.R656H|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	656					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ATTCCTCTTCGTCAAGTTATA	0.343													False	0	False	8:95871751	0	A	95871751	G	A	95871751	3	1	88	1	0	0	0	0	1	0	0	0	7834	1145	40	1	2029	1	INTS8	8	95871751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2610	95871751	50492271	9215	16927											
CCNE2	9134	broad.mit.edu	37	chr8	95900214	95900214	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagttgaagcatatttttatTtatatccttttgtgtcaaca	6	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95900214T>G	ENST00000520509.1	-	7	793	c.541A>C	c.(541-543)Aat>Cat	p.N181H	CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Missense_Mutation_p.N181H|CCNE2_ENST00000308108.4_Missense_Mutation_p.N181H			O96020	CCNE2_HUMAN	cyclin E2	181					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					ATATTTTTATTTATATCCTTT	0.294													False	0	True	8:95900214	0	G	95900214	T	G	95900214	3	3	88	1	0	0	0	0	1	0	0	0	2944	1841	64	4	697	4	CCNE2	8	95900214	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28463	95900214	50463808	9216	16928											
UQCRB	7381	broad.mit.edu	37	chr8	97244142	97244142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcttttacatcttcatcctCgtatattgtatcatctcgca	3	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97244142C>T	ENST00000287022.5	-	3	221	c.118G>A	c.(118-120)Gag>Aag	p.E40K	UQCRB_ENST00000523920.1_Missense_Mutation_p.E40K|UQCRB_ENST00000517523.1_Missense_Mutation_p.E8K|UQCRB_ENST00000518406.1_Missense_Mutation_p.E40K	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	40					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TCTTCATCCTCGTATATTGTA	0.363													False	0	False	8:97244142	0	T	97244142	C	T	97244142	3	4	88	1	0	0	0	0	1	0	0	0	17102	893	31	1	225	1	UQCRB	8	97244142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1343928	97244142	49119880	9217	16929											
PTDSS1	9791	broad.mit.edu	37	chr8	97296348	97296348	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatctgcaggtccgttcactCgacctcatccagccttatgg	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97296348C>T	ENST00000517309.1	+	3	609	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	95					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCCGTTCACTCGACCTCATCC	0.353													False	0	False	8:97296348	0	T	97296348	C	T	97296348	4	4	88	1	0	0	0	0	0	1	0	0	12812	876	31	1	293	1	PTDSS1	8	97296348	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52206	97296348	49067674	9218	16930											
TSPYL5	85453	broad.mit.edu	37	chr8	98289747	98289747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctccgagagagatgcgGccttccccgggccgggcctg	17	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:98289747G>A	ENST00000322128.3	-	1	429	c.326C>T	c.(325-327)gCc>gTc	p.A109V		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	109					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GAGAGATGCGGCCTTCCCCGG	0.741													False	0	False	8:98289747	0	A	98289747	G	A	98289747	3	1	88	1	0	0	0	0	1	0	0	0	16745	1203	42	2	931	2	TSPYL5	8	98289747	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	993399	98289747	48074275	9219	16931											
LAPTM4B	55353	broad.mit.edu	37	chr8	98827618	98827618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtgctatggctacttacGgagcgtacaaggtaagccgc	12	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:98827618G>A	ENST00000445593.2	+	3	1227	c.547G>A	c.(547-549)Gga>Aga	p.G183R	LAPTM4B_ENST00000521545.2_Missense_Mutation_p.G92R	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	236					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GGCTACTTACGGAGCGTACAA	0.418													False	0	False	8:98827618	0	A	98827618	G	A	98827618	3	1	88	1	0	0	0	0	1	0	0	0	8676	1117	39	1	557	1	LAPTM4B	8	98827618	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	537871	98827618	47536404	9220	16932											
MATN2	4147	broad.mit.edu	37	chr8	99030295	99030295	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatgactcatacacgtgCgagtgcttggagggattccg	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99030295C>T	ENST00000254898.5	+	12	2001	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C	MATN2_ENST00000522025.2_Silent_p.C306C|MATN2_ENST00000520016.1_Silent_p.C590C|MATN2_ENST00000524308.1_Silent_p.C549C|MATN2_ENST00000521689.1_Silent_p.C590C	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	590	EGF-like 9.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CATACACGTGCGAGTGCTTGG	0.507													False	0	False	8:99030295	0	T	99030295	C	T	99030295	2	4	88	1	0	0	0	0	0	0	0	1	9401	776	27	1		1	MATN2	8	99030295	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202677	99030295	47333727	9221	16933											
MATN2	4147	broad.mit.edu	37	chr8	99039839	99039839	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcactctgagaaacttcaActcagccaaagacatgaaaa	6	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99039839A>G	ENST00000254898.5	+	14	2369	c.2138A>G	c.(2137-2139)aAc>aGc	p.N713S	MATN2_ENST00000522025.2_Missense_Mutation_p.N429S|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.N713S|MATN2_ENST00000524308.1_Missense_Mutation_p.N672S|MATN2_ENST00000521689.1_Missense_Mutation_p.N713S	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	713	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AGAAACTTCAACTCAGCCAAA	0.478													False	0	False	8:99039839	0	G	99039839	A	G	99039839	3	3	88	1	0	0	0	0	1	0	0	0	9401	43	2	4	2188	4	MATN2	8	99039839	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9544	99039839	47324183	9222	16934											
POP1	10940	broad.mit.edu	37	chr8	99142303	99142303	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacgctagaatttaaccgtaGacaaaagaagaacatttggt	9	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99142303G>A	ENST00000401707.2	+	5	665	c.584G>A	c.(583-585)aGa>aAa	p.R195K	POP1_ENST00000349693.3_Missense_Mutation_p.R195K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	195					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTTAACCGTAGACAAAAGAAG	0.443													False	0	False	8:99142303	0	A	99142303	G	A	99142303	3	1	88	1	0	0	0	0	1	0	0	0	12320	942	33	2	598	2	POP1	8	99142303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102464	99142303	47221719	9223	16935											
NIPAL2	79815	broad.mit.edu	37	chr8	99207043	99207043	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatacaccaaggaatgacaGaaaacacctgtaaggataat	7	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99207043G>A	ENST00000341166.3	-	10	1207	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	NIPAL2_ENST00000430223.2_Silent_p.L318L|NIPAL2_ENST00000520545.1_5'UTR	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	318						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						AGGAATGACAGAAAACACCTG	0.308													False	0	True	8:99207043	0	A	99207043	G	A	99207043	2	1	88	1	0	0	0	0	0	0	0	1	10493	933	33	2		2	NIPAL2	8	99207043	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64740	99207043	47156979	9224	16936											
KCNS2	3788	broad.mit.edu	37	chr8	99440776	99440776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctgagcagggtcttcaGcatcctgtccatcctggtgg	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99440776G>A	ENST00000287042.4	+	2	919	c.569G>A	c.(568-570)aGc>aAc	p.S190N	KCNS2_ENST00000521839.1_Missense_Mutation_p.S190N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	190						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGGGTCTTCAGCATCCTGTCC	0.617													False	0	False	8:99440776	0	A	99440776	G	A	99440776	3	1	88	1	0	0	0	0	1	0	0	0	8139	971	34	2	571	2	KCNS2	8	99440776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233733	99440776	46923246	9225	16937											
OSR2	116039	broad.mit.edu	37	chr8	99961621	99961621	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaggactgggtagccccatCtcgggcctcagtaaattgac	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99961621C>A	ENST00000297565.4	+	2	937	c.441C>A	c.(439-441)atC>atA	p.I147I	OSR2_ENST00000457907.2_Silent_p.I268I|OSR2_ENST00000522510.1_Silent_p.I147I|OSR2_ENST00000435298.2_Silent_p.I147I|OSR2_ENST00000523368.1_Silent_p.I147I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	147					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GTAGCCCCATCTCGGGCCTCA	0.542													False	0	False	8:99961621	0	A	99961621	C	A	99961621	2	1	88	1	0	0	0	0	0	0	0	1	11362	903	32	3		3	OSR2	8	99961621	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	520845	99961621	46402401	9226	16938											
VPS13B	157680	broad.mit.edu	37	chr8	100147882	100147882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggtttcacataccttaCaaattcattgtttgattacc	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100147882C>T	ENST00000395996.1	+	11	1595	c.1484C>T	c.(1483-1485)aCa>aTa	p.T495I	VPS13B_ENST00000357162.2_Missense_Mutation_p.T495I|VPS13B_ENST00000358544.2_Missense_Mutation_p.T495I|VPS13B_ENST00000355155.1_Missense_Mutation_p.T495I			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	495					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACATACCTTACAAATTCATTG	0.328													False	0	True	8:100147882	0	T	100147882	C	T	100147882	3	4	88	1	0	0	0	0	1	0	0	0	17274	478	17	2	1564	2	VPS13B	8	100147882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186261	100147882	46216140	9227	16939											
VPS13B	157680	broad.mit.edu	37	chr8	100286495	100286495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaattgaagtactgcaGcacatcattggtcaaatgtg	10	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100286495G>A	ENST00000395996.1	+	18	2696	c.2585G>A	c.(2584-2586)aGc>aAc	p.S862N	VPS13B_ENST00000357162.2_Missense_Mutation_p.S862N|VPS13B_ENST00000358544.2_Missense_Mutation_p.S862N			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	862					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGTACTGCAGCACATCATTG	0.433													False	0	False	8:100286495	0	A	100286495	G	A	100286495	3	1	88	1	0	0	0	0	1	0	0	0	17274	971	34	2	2774	2	VPS13B	8	100286495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138613	100286495	46077527	9228	16940											
VPS13B	157680	broad.mit.edu	37	chr8	100454751	100454751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggacaaaccagcatgccGggaacacttgtcctctgttt	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100454751G>A	ENST00000395996.1	+	23	3444	c.3333G>A	c.(3331-3333)ccG>ccA	p.P1111P	VPS13B_ENST00000357162.2_Silent_p.P1111P|VPS13B_ENST00000358544.2_Silent_p.P1111P			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1111					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCAGCATGCCGGGAACACTTG	0.443													False	0	True	8:100454751	0	A	100454751	G	A	100454751	2	1	88	1	0	0	0	0	0	0	0	1	17274	1103	39	1		1	VPS13B	8	100454751	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168256	100454751	45909271	9229	16941											
VPS13B	157680	broad.mit.edu	37	chr8	100523350	100523350	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agacaactacaaaacttctaGatggcactcatcagcagcat	6	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100523350G>A	ENST00000358544.2	+	29	4429	c.4318G>A	c.(4318-4320)Gat>Aat	p.D1440N	VPS13B_ENST00000357162.2_Missense_Mutation_p.D1415N|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1440					protein transport			p.D1440H(1)|p.D1415H(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAACTTCTAGATGGCACTCA	0.348													False	0	False	8:100523350	0	A	100523350	G	A	100523350	3	1	88	1	0	0	0	0	1	0	0	0	17274	942	33	2	4622	2	VPS13B	8	100523350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68599	100523350	45840672	9230	16942											
VPS13B	157680	broad.mit.edu	37	chr8	100587894	100587894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatcttttagcatacggcGgcatcaagaaaggagagcaa	10	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100587894G>A	ENST00000358544.2	+	32	5144	c.5033G>A	c.(5032-5034)cGg>cAg	p.R1678Q	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1653Q|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1678					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCATACGGCGGCATCAAGAA	0.353													False	0	False	8:100587894	0	A	100587894	G	A	100587894	3	1	88	1	0	0	0	0	1	0	0	0	17274	1116	39	1	5349	1	VPS13B	8	100587894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64544	100587894	45776128	9231	16943											
VPS13B	157680	broad.mit.edu	37	chr8	100789061	100789061	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacttgtgactccaacagccCtggctgcctgtaccagagtt	9	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100789061C>A	ENST00000358544.2	+	41	7492	c.7381C>A	c.(7381-7383)Ctg>Atg	p.L2461M	VPS13B_ENST00000357162.2_Missense_Mutation_p.L2436M|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2461					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCAACAGCCCTGGCTGCCTG	0.453													False	0	True	8:100789061	0	A	100789061	C	A	100789061	3	1	88	1	0	0	0	0	1	0	0	0	17274	680	24	3	7733	3	VPS13B	8	100789061	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201167	100789061	45574961	9232	16944											
FBXO43	286151	broad.mit.edu	37	chr8	101146101	101146101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctatttcttggctttgCtgctcctctactacattctt	4	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101146101C>T	ENST00000428847.2	-	5	2372	c.2056G>A	c.(2056-2058)Gca>Aca	p.A686T		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	686					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTGGCTTTGCTGCTCCTCTA	0.443													False	0	False	8:101146101	0	T	101146101	C	T	101146101	3	4	88	1	0	0	0	0	1	0	0	0	5792	797	28	2	74	2	FBXO43	8	101146101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	357040	101146101	45217921	9233	16945											
SPAG1	6674	broad.mit.edu	37	chr8	101190150	101190150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagttcgtggttcaaacaGctgtcttcatgtaggcaagg	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101190150G>A	ENST00000388798.2	+	4	598	c.407G>A	c.(406-408)aGc>aAc	p.S136N	SPAG1_ENST00000251809.3_Missense_Mutation_p.S136N|SPAG1_ENST00000520643.1_Missense_Mutation_p.S136N|SPAG1_ENST00000520508.1_Missense_Mutation_p.S136N	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	136					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GGTTCAAACAGCTGTCTTCAT	0.388													False	0	False	8:101190150	0	A	101190150	G	A	101190150	3	1	88	1	0	0	0	0	1	0	0	0	15057	971	34	2	417	2	SPAG1	8	101190150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44049	101190150	45173872	9234	16946											
SPAG1	6674	broad.mit.edu	37	chr8	101196260	101196260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatagacaagtcacacttgTctaaaattgagacaagaata	6	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101196260T>C	ENST00000388798.2	+	6	756	c.565T>C	c.(565-567)Tct>Cct	p.S189P	SPAG1_ENST00000251809.3_Missense_Mutation_p.S189P|SPAG1_ENST00000520643.1_Missense_Mutation_p.S189P|SPAG1_ENST00000520508.1_Missense_Mutation_p.S189P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	189					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GTCACACTTGTCTAAAATTGA	0.264													False	0	False	8:101196260	0	C	101196260	T	C	101196260	3	2	88	1	0	0	0	0	1	0	0	0	15057	1667	58	4	583	4	SPAG1	8	101196260	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6110	101196260	45167762	9235	16947											
RNF19A	25897	broad.mit.edu	37	chr8	101271380	101271380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcatgacttcgggtggCactgccatcatccacactac	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101271380C>T	ENST00000519449.1	-	11	2237	c.1921G>A	c.(1921-1923)Gcc>Acc	p.A641T	RNF19A_ENST00000341084.2_Missense_Mutation_p.A641T|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	641					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTTCGGGTGGCACTGCCATCA	0.478											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	8:101271380	0	T	101271380	C	T	101271380	3	4	88	1	0	0	0	0	1	0	0	0	13549	710	25	2	599	2	RNF19A	8	101271380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75120	101271380	45092642	9236	16948											
ANKRD46	157567	broad.mit.edu	37	chr8	101541971	101541971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaagccactttccaaaaGccgcttggaataattaaagt	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101541971G>A	ENST00000520311.1	-	3	894	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	ANKRD46_ENST00000519316.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.L31F|ANKRD46_ENST00000520552.1_Missense_Mutation_p.L31F|ANKRD46_ENST00000519597.1_Missense_Mutation_p.L31F	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	31						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTTCCAAAAGCCGCTTGGAA	0.458													False	0	True	8:101541971	0	A	101541971	G	A	101541971	3	1	88	1	0	0	0	0	1	0	0	0	674	971	34	2	607	2	ANKRD46	8	101541971	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270591	101541971	44822051	9237	16949											
SNX31	169166	broad.mit.edu	37	chr8	101608911	101608911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctgctcatctggaaaaCgatgtcctgggtctggctgt	11	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101608911C>T	ENST00000311812.2	-	10	1084	c.934G>A	c.(934-936)Gtt>Att	p.V312I	SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.V213I	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	312					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			ATCTGGAAAACGATGTCCTGG	0.502													False	0	True	8:101608911	0	T	101608911	C	T	101608911	3	4	88	1	0	0	0	0	1	0	0	0	14981	536	19	1	408	1	SNX31	8	101608911	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66940	101608911	44755111	9238	16950											
SNX31	169166	broad.mit.edu	37	chr8	101624274	101624274	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttccacctcagaacttccaaGactaacataagggagttcaa	6	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101624274G>T	ENST00000311812.2	-	7	715	c.565C>A	c.(565-567)Ctt>Att	p.L189I	SNX31_ENST00000428383.2_Missense_Mutation_p.L90I	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	189					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GAACTTCCAAGACTAACATAA	0.438													False	0	False	8:101624274	0	T	101624274	G	T	101624274	3	4	88	1	0	0	0	0	1	0	0	0	14981	942	33	3	789	3	SNX31	8	101624274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15363	101624274	44739748	9239	16951											
GRHL2	79977	broad.mit.edu	37	chr8	102585977	102585977	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatgacctacctcaacaaAggacagttctatgccataac	5	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102585977A>C	ENST00000251808.3	+	6	1154	c.816A>C	c.(814-816)aaA>aaC	p.K272N	GRHL2_ENST00000395927.1_Missense_Mutation_p.K256N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	272						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACCTCAACAAAGGACAGTTCT	0.502													False	0	True	8:102585977	0	C	102585977	A	C	102585977	3	2	88	1	0	0	0	0	1	0	0	0	6811	69	3	4	838	4	GRHL2	8	102585977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	961703	102585977	43778045	9240	16952											
GRHL2	79977	broad.mit.edu	37	chr8	102589658	102589658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtgatggtggtcttcaGtgaagacaaaaacagagatg	14	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102589658G>A	ENST00000251808.3	+	7	1252	c.914G>A	c.(913-915)aGt>aAt	p.S305N	GRHL2_ENST00000395927.1_Missense_Mutation_p.S289N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	305						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GTGGTCTTCAGTGAAGACAAA	0.488													False	0	False	8:102589658	0	A	102589658	G	A	102589658	3	1	88	1	0	0	0	0	1	0	0	0	6811	1029	36	2	940	2	GRHL2	8	102589658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3681	102589658	43774364	9241	16953											
GRHL2	79977	broad.mit.edu	37	chr8	102611284	102611284	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctttttttaatgttacaGccgattacaaggagagcttt	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102611284G>A	ENST00000251808.3	+	8	1341		c.e8-1		GRHL2_ENST00000395927.1_Splice_Site	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)							cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TAATGTTACAGCCGATTACAA	0.368													False	0	False	8:102611284	0	A	102611284	G	A	102611284	5	1	88	1	0	0	0	0	0	0	1	0	6811	985	34	2	1033	2	GRHL2	8	102611284	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21626	102611284	43752738	9242	16954											
NCALD	83988	broad.mit.edu	37	chr8	102731833	102731833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgcatgacctccgggcGcagcttgctgttctgtttcc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102731833G>A	ENST00000395923.1	-	4	484	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	NCALD_ENST00000522951.1_Missense_Mutation_p.R9C|NCALD_ENST00000311028.3_Missense_Mutation_p.R9C|NCALD_ENST00000220931.6_Missense_Mutation_p.R9C|NCALD_ENST00000521599.1_Missense_Mutation_p.R9C|NCALD_ENST00000519508.2_Missense_Mutation_p.R9C	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	9					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			ACCTCCGGGCGCAGCTTGCTG	0.478													False	0	False	8:102731833	0	A	102731833	G	A	102731833	3	1	88	1	0	0	0	0	1	0	0	0	10269	1087	38	1	568	1	NCALD	8	102731833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120549	102731833	43632189	9243	16955											
RRM2B	50484	broad.mit.edu	37	chr8	103231160	103231160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttctacagcagcaaagGccaccactctttcccctggg	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103231160G>A	ENST00000251810.3	-	6	809	c.566C>T	c.(565-567)gCc>gTc	p.A189V	RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Missense_Mutation_p.A137V	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	189					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			AGCAGCAAAGGCCACCACTCT	0.353								Modulation of nucleotide pools					False	0	False	8:103231160	0	A	103231160	G	A	103231160	3	1	88	1	0	0	0	0	1	0	0	0	13762	1203	42	2	505	2	RRM2B	8	103231160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	499327	103231160	43132862	9244	16956											
UBR5	51366	broad.mit.edu	37	chr8	103266610	103266610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttagaggaatagagtgggaCgtaaagtcgagaaatgcaag	14	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103266610C>T	ENST00000520539.1	-	59	8926	c.8320G>A	c.(8320-8322)Gtc>Atc	p.V2774I	UBR5_ENST00000521922.1_Missense_Mutation_p.V2767I|UBR5_ENST00000518205.1_Missense_Mutation_p.V502I|UBR5_ENST00000220959.4_Missense_Mutation_p.V2773I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2774	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGAGTGGGACGTAAAGTCGA	0.393													False	0	False	8:103266610	0	T	103266610	C	T	103266610	3	4	88	1	0	0	0	0	1	0	0	0	16989	536	19	1	83	1	UBR5	8	103266610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35450	103266610	43097412	9245	16957											
UBR5	51366	broad.mit.edu	37	chr8	103274267	103274267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaactctcatacattacaGgatcaaaaaaagcaaaatca	4	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103274267G>T	ENST00000520539.1	-	55	8324	c.7718C>A	c.(7717-7719)cCt>cAt	p.P2573H	UBR5_ENST00000521922.1_Missense_Mutation_p.P2566H|UBR5_ENST00000518205.1_Missense_Mutation_p.P301H|UBR5_ENST00000220959.4_Missense_Mutation_p.P2572H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2573	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATACATTACAGGATCAAAAAA	0.353													False	0	False	8:103274267	0	T	103274267	G	T	103274267	3	4	88	1	0	0	0	0	1	0	0	0	16989	1000	35	3	701	3	UBR5	8	103274267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7657	103274267	43089755	9246	16958											
UBR5	51366	broad.mit.edu	37	chr8	103307906	103307906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattagtagcagtgagcaggCgataaagtagatcaagacga	13	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103307906C>T	ENST00000520539.1	-	29	4376	c.3770G>A	c.(3769-3771)cGc>cAc	p.R1257H	UBR5_ENST00000521922.1_Missense_Mutation_p.R1251H|UBR5_ENST00000220959.4_Missense_Mutation_p.R1257H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1257					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGTGAGCAGGCGATAAAGTAG	0.418													False	0	False	8:103307906	0	T	103307906	C	T	103307906	3	4	88	1	0	0	0	0	1	0	0	0	16989	768	27	1	4753	1	UBR5	8	103307906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33639	103307906	43056116	9247	16959											
UBR5	51366	broad.mit.edu	37	chr8	103338880	103338880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttcctttgactaaaaGgaactacacccctgaaaaca	4	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103338880G>A	ENST00000520539.1	-	13	2099	c.1493C>T	c.(1492-1494)cCt>cTt	p.P498L	UBR5_ENST00000521922.1_Missense_Mutation_p.P492L|UBR5_ENST00000220959.4_Missense_Mutation_p.P498L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	498					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGACTAAAAGGAACTACACC	0.328													False	0	True	8:103338880	0	A	103338880	G	A	103338880	3	1	88	1	0	0	0	0	1	0	0	0	16989	1000	35	2	7094	2	UBR5	8	103338880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30974	103338880	43025142	9248	16960											
UBR5	51366	broad.mit.edu	37	chr8	103357683	103357683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaagggtaaccaaaatagCtaatgtcttcagaaaacatg	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103357683C>A	ENST00000520539.1	-	8	1433	c.827G>T	c.(826-828)aGc>aTc	p.S276I	UBR5_ENST00000521922.1_Missense_Mutation_p.S276I|UBR5_ENST00000220959.4_Missense_Mutation_p.S276I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	276					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACCAAAATAGCTAATGTCTTC	0.393													False	0	False	8:103357683	0	A	103357683	C	A	103357683	3	1	88	1	0	0	0	0	1	0	0	0	16989	797	28	3	7780	3	UBR5	8	103357683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18803	103357683	43006339	9249	16961											
ODF1	4956	broad.mit.edu	37	chr8	103564019	103564019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaagaaggtggacagagaaCtaaggcaactgagatgcatc	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103564019C>A	ENST00000285402.3	+	1	220	c.64C>A	c.(64-66)Cta>Ata	p.L22I		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	22					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GGACAGAGAACTAAGGCAACT	0.488													False	0	False	8:103564019	0	A	103564019	C	A	103564019	3	1	88	1	0	0	0	0	1	0	0	0	10894	564	20	3	66	3	ODF1	8	103564019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206336	103564019	42800003	9250	16962											
ODF1	4956	broad.mit.edu	37	chr8	103564276	103564276	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaagcgagagcttgccaaGtaaaataacttatttttaaa	8	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103564276G>T	ENST00000285402.3	+	1	476		c.e1+1			NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1						cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGCTTGCCAAGtaaaataact	0.343													False	0	False	8:103564276	0	T	103564276	G	T	103564276	5	4	88	1	0	0	0	0	0	0	1	0	10894	1043	36	3	323	3	ODF1	8	103564276	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257	103564276	42799746	9251	16963											
KLF10	7071	broad.mit.edu	37	chr8	103663511	103663511	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgctgctgaaggggaaAacccaggagcaggggcaatg	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103663511A>C	ENST00000395884.3	-	3	1918	c.1016T>G	c.(1015-1017)tTt>tGt	p.F339C	KLF10_ENST00000285407.6_Missense_Mutation_p.F350C	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	350					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGAAGGGGAAAACCCAGGAGC	0.517													False	0	True	8:103663511	0	C	103663511	A	C	103663511	3	2	88	1	0	0	0	0	1	0	0	0	8388	14	1	4	401	4	KLF10	8	103663511	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	99235	103663511	42700511	9252	16964											
KLF10	7071	broad.mit.edu	37	chr8	103667818	103667818	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgctggagagaggcaccGaagttgagcatggttggctg	17	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103667818G>A	ENST00000285407.6	-	1	312	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	4					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GAGAGGCACCGAAGTTGAGCA	0.657													False	0	False	8:103667818	0	A	103667818	G	A	103667818	2	1	88	1	0	0	0	0	0	0	0	1	8388	1049	37	1		1	KLF10	8	103667818	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4307	103667818	42696204	9253	16965											
AZIN1	0	broad.mit.edu	37	chr8	103845355	103845355	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcgagtgtaaatgcagaaGacacatagtagcttccgggt	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103845355G>A	ENST00000337198.5	-	9	1996	c.833C>T	c.(832-834)tCt>tTt	p.S278F	AZIN1_ENST00000347770.4_Missense_Mutation_p.S278F	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	278					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AAATGCAGAAGACACATAGTA	0.338													False	0	False	8:103845355	0	A	103845355	G	A	103845355	3	1	88	1	0	0	0	0	1	0	0	0	1246	942	33	2	529	2	AZIN1	8	103845355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177537	103845355	42518667	9254	16966											
BAALC	79870	broad.mit.edu	37	chr8	104225273	104225273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccagagcctcagctcagGccctctgacccagaaacaga	8	17	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104225273G>A	ENST00000309982.5	+	2	475	c.287G>A	c.(286-288)gGc>gAc	p.G96D	RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000297574.6_Missense_Mutation_p.G131D|RP11-318M2.2_ENST00000523614.2_RNA|BAALC_ENST00000438105.2_Intron	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	131						centrosome|membrane|nucleus				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CTCAGCTCAGGCCCTCTGACC	0.567													False	0	True	8:104225273	0	A	104225273	G	A	104225273	3	1	88	1	0	0	0	0	1	0	0	0	1283	1203	42	2	293	2	BAALC	8	104225273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	379918	104225273	42138749	9255	16967											
FZD6	8323	broad.mit.edu	37	chr8	104343602	104343602	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtgatattactgacactggCctggcacagagcaacaattt	9	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104343602C>A	ENST00000358755.4	+	7	2303	c.1986C>A	c.(1984-1986)ggC>ggA	p.G662G	FZD6_ENST00000540287.1_Silent_p.G357G|FZD6_ENST00000523739.1_Silent_p.G630G|FZD6_ENST00000522566.1_Silent_p.G662G	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	662					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CTGACACTGGCCTGGCACAGA	0.428													False	0	True	8:104343602	0	A	104343602	C	A	104343602	2	1	88	1	0	0	0	0	0	0	0	1	6176	726	26	3		3	FZD6	8	104343602	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118329	104343602	42020420	9256	16968											
CTHRC1	115908	broad.mit.edu	37	chr8	104387965	104387965	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttttctttctcattataGtataatggaatgtgcttaca	6	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104387965G>A	ENST00000330295.5	+	2	292		c.e2-1		CTHRC1_ENST00000520337.1_Splice_Site|CTHRC1_ENST00000415886.2_Splice_Site	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1							collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TCTCATTATAGTATAATGGAA	0.478													False	0	False	8:104387965	0	A	104387965	G	A	104387965	5	1	88	1	0	0	0	0	0	0	1	0	4035	1043	36	2	156	2	CTHRC1	8	104387965	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44363	104387965	41976057	9257	16969											
DCAF13	25879	broad.mit.edu	37	chr8	104432575	104432575	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaatgctaccaaactggaaCgagtatttgcaaaaccattc	6	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104432575C>T	ENST00000297579.5	+	2	887	c.610C>T	c.(610-612)Cga>Tga	p.R204*	DCAF13_ENST00000519682.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000521971.1_Nonsense_Mutation_p.R48*|DCAF13_ENST00000521716.1_Nonsense_Mutation_p.R48*	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	52					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAAACTGGAACGAGTATTTGC	0.428													False	0	False	8:104432575	0	T	104432575	C	T	104432575	4	4	88	1	0	0	0	0	0	1	0	0	4291	528	19	1	616	1	DCAF13	8	104432575	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44610	104432575	41931447	9258	16970											
DCAF13	25879	broad.mit.edu	37	chr8	104453770	104453770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcatataaaacgtatagctCgtcatcgacatctaccaaaa	4	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104453770C>T	ENST00000297579.5	+	10	1907	c.1630C>T	c.(1630-1632)Cgt>Tgt	p.R544C		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	392					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACGTATAGCTCGTCATCGACA	0.383													False	0	False	8:104453770	0	T	104453770	C	T	104453770	3	4	88	1	0	0	0	0	1	0	0	0	4291	884	31	1	1668	1	DCAF13	8	104453770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21195	104453770	41910252	9259	16971											
RIMS2	9699	broad.mit.edu	37	chr8	104897708	104897708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgatcatttaagttataGggactccaacaggagaagtc	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104897708G>A	ENST00000507740.1	+	2	541	c.305G>A	c.(304-306)aGg>aAg	p.R102K	RIMS2_ENST00000436393.2_Missense_Mutation_p.R72K|RIMS2_ENST00000262231.10_Missense_Mutation_p.R102K|RIMS2_ENST00000406091.3_Missense_Mutation_p.R294K|RIMS2_ENST00000522174.1_3'UTR	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	325	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAAGTTATAGGGACTCCAAC	0.408										HNSCC(12;0.0054)			False	0	True	8:104897708	0	A	104897708	G	A	104897708	3	1	88	1	0	0	0	0	1	0	0	0	13447	1000	35	2	1021	2	RIMS2	8	104897708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	443938	104897708	41466314	9260	16972											
RIMS2	9699	broad.mit.edu	37	chr8	104922756	104922756	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatagccatagtgataAggtactgagattgtggagcc	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104922756A>C	ENST00000262231.10	+	3	1504	c.1256A>C	c.(1255-1257)aAg>aCg	p.K419T	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron	NM_001282881.1	NP_001269810.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	642					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CATAGTGATAAGGTACTGAGA	0.438										HNSCC(12;0.0054)			False	0	False	8:104922756	0	C	104922756	A	C	104922756	5	2	88	1	0	0	0	0	0	0	1	0	13447	87	3	4		4	RIMS2	8	104922756	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25048	104922756	41441266	9261	16973											
DPYS	1807	broad.mit.edu	37	chr8	105456654	105456654	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttatccccagagccaacatCttctttgctccctaaaaaga	5	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105456654C>A	ENST00000351513.2	-	4	747	c.615G>T	c.(613-615)aaG>aaT	p.K205N		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	205					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGCCAACATCTTCTTTGCTC	0.488													False	0	False	8:105456654	0	A	105456654	C	A	105456654	3	1	88	1	0	0	0	0	1	0	0	0	4776	912	32	3	968	3	DPYS	8	105456654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	533898	105456654	40907368	9262	16974											
DPYS	1807	broad.mit.edu	37	chr8	105459595	105459595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcatggacctgggcaattGctccaatttccttgcaccga	9	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105459595G>A	ENST00000351513.2	-	3	692	c.560C>T	c.(559-561)gCa>gTa	p.A187V		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	187					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGGGCAATTGCTCCAATTTC	0.448													False	0	False	8:105459595	0	A	105459595	G	A	105459595	3	1	88	1	0	0	0	0	1	0	0	0	4776	1319	46	2	1027	2	DPYS	8	105459595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2941	105459595	40904427	9263	16975											
DPYS	1807	broad.mit.edu	37	chr8	105463555	105463555	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccagcttcgccaggtctcGaaggcctcaatgagggagcc	13	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105463555G>A	ENST00000351513.2	-	2	474	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	114					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCAGGTCTCGAAGGCCTCAA	0.517													False	0	False	8:105463555	0	A	105463555	G	A	105463555	2	1	88	1	0	0	0	0	0	0	0	1	4776	1049	37	1		1	DPYS	8	105463555	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3960	105463555	40900467	9264	16976											
LRP12	29967	broad.mit.edu	37	chr8	105509583	105509583	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttccatttgggcaatgCcaatacccatcacaacgctg	6	15	1	0	rs5893689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105509583C>T	ENST00000276654.5	-	5	1305	c.1197G>A	c.(1195-1197)tgG>tgA	p.W399*	LRP12_ENST00000424843.2_Nonsense_Mutation_p.W380*	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	399	LDL-receptor class A 3.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTGGGCAATGCCAATACCCAT	0.468													False	0	False	8:105509583	0	T	105509583	C	T	105509583	4	4	88	1	0	0	0	0	0	1	0	0	9016	740	26	2	1394	2	LRP12	8	105509583	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46028	105509583	40854439	9265	16977											
LRP12	29967	broad.mit.edu	37	chr8	105510183	105510183	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggatttgcttctttggcacaGatctcttcatcggaactatc	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105510183G>T	ENST00000276654.5	-	5	705	c.597C>A	c.(595-597)atC>atA	p.I199I	LRP12_ENST00000424843.2_Silent_p.I180I	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	199	LDL-receptor class A 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTTGGCACAGATCTCTTCAT	0.428													False	0	False	8:105510183	0	T	105510183	G	T	105510183	2	4	88	1	0	0	0	0	0	0	0	1	9016	932	33	3		3	LRP12	8	105510183	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	600	105510183	40853839	9266	16978											
ZFPM2	23414	broad.mit.edu	37	chr8	106814456	106814456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtgctacacgccacgacCctccactgaagaggtctgct	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:106814456C>T	ENST00000407775.2	+	8	2396	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P584S|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P584S|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P447S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	716					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACGCCACGACCCTCCACTGAA	0.502													False	0	True	8:106814456	0	T	106814456	C	T	106814456	3	4	88	1	0	0	0	0	1	0	0	0	17741	623	22	2	2176	2	ZFPM2	8	106814456	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1304273	106814456	39549566	9267	16979											
ABRA	137735	broad.mit.edu	37	chr8	107781789	107781789	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgatcctgaccacagccacCtgcactccatcctgctcggg	8	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:107781789C>A	ENST00000311955.3	-	1	684	c.630G>T	c.(628-630)caG>caT	p.Q210H		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	210					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCACAGCCACCTGCACTCCAT	0.587													False	0	False	8:107781789	0	A	107781789	C	A	107781789	3	1	88	1	0	0	0	0	1	0	0	0	100	680	24	3	523	3	ABRA	8	107781789	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	967333	107781789	38582233	9268	16980											
ABRA	137735	broad.mit.edu	37	chr8	107781820	107781820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcgggcctctcctcaGcctctcctccatagccgctg	8	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:107781820G>T	ENST00000311955.3	-	1	653	c.599C>A	c.(598-600)gCt>gAt	p.A200D		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	200					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCTCTCCTCAGCCTCTCCTCC	0.592													False	0	False	8:107781820	0	T	107781820	G	T	107781820	3	4	88	1	0	0	0	0	1	0	0	0	100	971	34	3	554	3	ABRA	8	107781820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	107781820	38582202	9269	16981											
TMEM74	157753	broad.mit.edu	37	chr8	109796947	109796947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgcccttttgctgatggCgagctccggttccgctgctc	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:109796947C>T	ENST00000297459.3	-	2	559	c.381G>A	c.(379-381)tcG>tcA	p.S127S	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	127					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTGCTGATGGCGAGCTCCGGT	0.493													False	0	False	8:109796947	0	T	109796947	C	T	109796947	2	4	88	1	0	0	0	0	0	0	0	1	16284	755	27	1		1	TMEM74	8	109796947	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2015127	109796947	36567075	9270	16982											
TRHR	7201	broad.mit.edu	37	chr8	110100072	110100072	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagtatttgggaattaatGcatcctcttgttcaataaca	6	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110100072G>T	ENST00000518632.1	+	2	682	c.331G>T	c.(331-333)Gca>Tca	p.A111S	TRHR_ENST00000311762.2_Missense_Mutation_p.A111S			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	111						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGGAATTAATGCATCCTCTTG	0.453													False	0	False	8:110100072	0	T	110100072	G	T	110100072	3	4	88	1	0	0	0	0	1	0	0	0	16563	1319	46	3	333	3	TRHR	8	110100072	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303125	110100072	36263950	9271	16983											
NUDCD1	84955	broad.mit.edu	37	chr8	110283254	110283254	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatgagtagtttttaatgTattgccatcaaatctgcata	6	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110283254T>C	ENST00000239690.4	-	8	1653	c.1279A>G	c.(1279-1281)Aca>Gca	p.T427A	NUDCD1_ENST00000427660.2_Missense_Mutation_p.T398A	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	427										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GTTTTTAATGTATTGCCATCA	0.299													False	0	False	8:110283254	0	C	110283254	T	C	110283254	3	2	88	1	0	0	0	0	1	0	0	0	10790	1638	57	4	484	4	NUDCD1	8	110283254	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	183182	110283254	36080768	9272	16984											
PKHD1L1	93035	broad.mit.edu	37	chr8	110408262	110408262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttttcccccagaggtcaCcatgattttcccttcacaag	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110408262C>T	ENST00000378402.5	+	11	922	c.818C>T	c.(817-819)aCc>aTc	p.T273I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	273	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCAGAGGTCACCATGATTTTC	0.383										HNSCC(38;0.096)			False	0	False	8:110408262	0	T	110408262	C	T	110408262	3	4	88	1	0	0	0	0	1	0	0	0	12041	507	18	2	860	2	PKHD1L1	8	110408262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125008	110408262	35955760	9273	16985											
PKHD1L1	93035	broad.mit.edu	37	chr8	110442244	110442244	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccaacattactcccctagtCttggcgataagcccttctca	5	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110442244C>A	ENST00000378402.5	+	27	3311	c.3207C>A	c.(3205-3207)gtC>gtA	p.V1069V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1069	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCCCTAGTCTTGGCGATAA	0.368										HNSCC(38;0.096)			False	0	False	8:110442244	0	A	110442244	C	A	110442244	2	1	88	1	0	0	0	0	0	0	0	1	12041	900	32	3		3	PKHD1L1	8	110442244	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33982	110442244	35921778	9274	16986											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457518	110457518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtgactcctctcccagTtggacatcattctgttagtg	8	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110457518T>C	ENST00000378402.5	+	38	5524	c.5420T>C	c.(5419-5421)gTt>gCt	p.V1807A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1807	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTCTCCCAGTTGGACATCAT	0.453										HNSCC(38;0.096)			False	0	False	8:110457518	0	C	110457518	T	C	110457518	3	2	88	1	0	0	0	0	1	0	0	0	12041	1725	60	4	5570	4	PKHD1L1	8	110457518	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15274	110457518	35906504	9275	16987											
PKHD1L1	93035	broad.mit.edu	37	chr8	110471888	110471888	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgatggcataaacataAcactaagtaacccactaaat	5	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110471888A>G	ENST00000378402.5	+	47	7173	c.7069A>G	c.(7069-7071)Aca>Gca	p.T2357A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2357					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATAAACATAACACTAAGTAA	0.348										HNSCC(38;0.096)			False	0	False	8:110471888	0	G	110471888	A	G	110471888	3	3	88	1	0	0	0	0	1	0	0	0	12041	43	2	4	7255	4	PKHD1L1	8	110471888	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14370	110471888	35892134	9276	16988											
PKHD1L1	93035	broad.mit.edu	37	chr8	110478873	110478873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcattgtactcaggaagCtgagtggagcattgggttcc	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110478873C>A	ENST00000378402.5	+	50	8584	c.8480C>A	c.(8479-8481)gCt>gAt	p.A2827D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2827					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTCAGGAAGCTGAGTGGAGC	0.448										HNSCC(38;0.096)			False	0	False	8:110478873	0	A	110478873	C	A	110478873	3	1	88	1	0	0	0	0	1	0	0	0	12041	797	28	3	8678	3	PKHD1L1	8	110478873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6985	110478873	35885149	9277	16989											
PKHD1L1	93035	broad.mit.edu	37	chr8	110478960	110478960	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaccagccttctccagtatCtctgcttgaaaaggatgtgg	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110478960C>A	ENST00000378402.5	+	50	8671	c.8567C>A	c.(8566-8568)tCt>tAt	p.S2856Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2856					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTCCAGTATCTCTGCTTGAA	0.398										HNSCC(38;0.096)			False	0	False	8:110478960	0	A	110478960	C	A	110478960	3	1	88	1	0	0	0	0	1	0	0	0	12041	913	32	3	8765	3	PKHD1L1	8	110478960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	110478960	35885062	9278	16990											
PKHD1L1	93035	broad.mit.edu	37	chr8	110503218	110503218	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagattcaagaacatggctcAtcttatattcgaggctgtgc	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110503218A>G	ENST00000378402.5	+	61	10106	c.10002A>G	c.(10000-10002)tcA>tcG	p.S3334S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3334					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACATGGCTCATCTTATATTC	0.318										HNSCC(38;0.096)			False	0	False	8:110503218	0	G	110503218	A	G	110503218	2	3	88	1	0	0	0	0	0	0	0	1	12041	204	8	4		4	PKHD1L1	8	110503218	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24258	110503218	35860804	9279	16991											
PKHD1L1	93035	broad.mit.edu	37	chr8	110505909	110505909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaatagagggaccaataCagttttacagaataatgtag	9	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110505909C>T	ENST00000378402.5	+	63	10360	c.10256C>T	c.(10255-10257)aCa>aTa	p.T3419I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3419					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGACCAATACAGTTTTACAG	0.358										HNSCC(38;0.096)			False	0	False	8:110505909	0	T	110505909	C	T	110505909	3	4	88	1	0	0	0	0	1	0	0	0	12041	478	17	2	10506	2	PKHD1L1	8	110505909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2691	110505909	35858113	9280	16992											
PKHD1L1	93035	broad.mit.edu	37	chr8	110509151	110509151	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatatttccctccaaggccAgtttaatcctgtggaaaagt	7	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110509151A>C	ENST00000378402.5	+	64	10435	c.10331A>C	c.(10330-10332)cAg>cCg	p.Q3444P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3444					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCAAGGCCAGTTTAATCCT	0.353										HNSCC(38;0.096)			False	0	False	8:110509151	0	C	110509151	A	C	110509151	3	2	88	1	0	0	0	0	1	0	0	0	12041	188	7	4	10585	4	PKHD1L1	8	110509151	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3242	110509151	35854871	9281	16993											
PKHD1L1	93035	broad.mit.edu	37	chr8	110509385	110509385	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaattctattgcagaccacaGagagtgtgcacatttataat	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110509385G>T	ENST00000378402.5	+	65	10587	c.10483G>T	c.(10483-10485)Gag>Tag	p.E3495*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3495					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCAGACCACAGAGAGTGTGCA	0.328										HNSCC(38;0.096)			False	0	True	8:110509385	0	T	110509385	G	T	110509385	4	4	88	1	0	0	0	0	0	1	0	0	12041	943	33	3	10741	3	PKHD1L1	8	110509385	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234	110509385	35854637	9282	16994											
EBAG9	9166	broad.mit.edu	37	chr8	110569174	110569174	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatctttcagattgttattaAgaagagagaaccattgaatt	7	4	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110569174A>T	ENST00000337573.5	+	5	632	c.332A>T	c.(331-333)aAg>aTg	p.K111M	EBAG9_ENST00000395785.2_Missense_Mutation_p.K111M|EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000531677.1_Missense_Mutation_p.K111M	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	111					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			ATTGTTATTAAGAAGAGAGAA	0.313													False	0	False	8:110569174	0	T	110569174	A	T	110569174	3	4	88	1	0	0	0	0	1	0	0	0	4909	72	3	5	346	5	EBAG9	8	110569174	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	59789	110569174	35794848	9283	16995											
CSMD3	114788	broad.mit.edu	37	chr8	113237091	113237091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcatacatgggatttTcaaaagctgcttggccattg	11	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113237091T>G	ENST00000297405.5	-	71	11277	c.11033A>C	c.(11032-11034)gAa>gCa	p.E3678A	CSMD3_ENST00000352409.3_Missense_Mutation_p.E3608A|CSMD3_ENST00000455883.2_Missense_Mutation_p.E3509A|CSMD3_ENST00000343508.3_Missense_Mutation_p.E3638A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3678						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATGGGATTTTCAAAAGCTGC	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	True	8:113237091	0	G	113237091	T	G	113237091	3	3	88	1	0	0	0	0	1	0	0	0	3971	1783	62	4	94	4	CSMD3	8	113237091	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2667917	113237091	33126931	9284	16996											
CSMD3	114788	broad.mit.edu	37	chr8	113246693	113246693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacattaggcgagcttcctgGcttttatatacccctgtaaa	7	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113246693G>A	ENST00000297405.5	-	68	10885	c.10641C>T	c.(10639-10641)agC>agT	p.S3547S	CSMD3_ENST00000352409.3_Silent_p.S3477S|CSMD3_ENST00000455883.2_Silent_p.S3378S|CSMD3_ENST00000343508.3_Silent_p.S3507S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3547						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGCTTCCTGGCTTTTATATA	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	False	8:113246693	0	A	113246693	G	A	113246693	2	1	88	1	0	0	0	0	0	0	0	1	3971	1194	42	2		2	CSMD3	8	113246693	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9602	113246693	33117329	9285	16997											
CSMD3	114788	broad.mit.edu	37	chr8	113317044	113317044	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatgataaccagggtcacaGctgaaaactactttggtttt	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113317044G>T	ENST00000297405.5	-	52	8416	c.8172C>A	c.(8170-8172)agC>agA	p.S2724R	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2654R|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2684R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2724	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGGTCACAGCTGAAAACTA	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	False	8:113317044	0	T	113317044	G	T	113317044	3	4	88	1	0	0	0	0	1	0	0	0	3971	962	34	3	3031	3	CSMD3	8	113317044	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70351	113317044	33046978	9286	16998											
CSMD3	114788	broad.mit.edu	37	chr8	113347602	113347602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttgttgtgaaatcactgTggaatttgattagaatctga	9	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113347602T>C	ENST00000297405.5	-	45	7365	c.7121A>G	c.(7120-7122)cAc>cGc	p.H2374R	CSMD3_ENST00000352409.3_Missense_Mutation_p.H2304R|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2270R|CSMD3_ENST00000343508.3_Missense_Mutation_p.H2334R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2374	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAATCACTGTGGAATTTGAT	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	False	8:113347602	0	C	113347602	T	C	113347602	3	2	88	1	0	0	0	0	1	0	0	0	3971	1696	59	4	4110	4	CSMD3	8	113347602	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30558	113347602	33016420	9287	16999											
CSMD3	114788	broad.mit.edu	37	chr8	113348918	113348918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatattggttctgtttgaaGgacagtaaaattgatgtaga	10	2	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113348918G>T	ENST00000297405.5	-	44	7226	c.6982C>A	c.(6982-6984)Ctt>Att	p.L2328I	CSMD3_ENST00000352409.3_Missense_Mutation_p.L2258I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2224I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2288I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2328	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGTTTGAAGGACAGTAAAA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	False	8:113348918	0	T	113348918	G	T	113348918	3	4	88	1	0	0	0	0	1	0	0	0	3971	1000	35	3	4253	3	CSMD3	8	113348918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1316	113348918	33015104	9288	17000											
CSMD3	114788	broad.mit.edu	37	chr8	113358415	113358415	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gactgaggatcacaccactgAagtctgacatagcaccacca	8	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113358415A>C	ENST00000297405.5	-	41	6597	c.6353T>G	c.(6352-6354)tTc>tGc	p.F2118C	CSMD3_ENST00000352409.3_Missense_Mutation_p.F2048C|CSMD3_ENST00000455883.2_Missense_Mutation_p.F2014C|CSMD3_ENST00000343508.3_Missense_Mutation_p.F2078C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2118	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACACCACTGAAGTCTGACAT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	False	8:113358415	0	C	113358415	A	C	113358415	3	2	88	1	0	0	0	0	1	0	0	0	3971	246	9	4	4894	4	CSMD3	8	113358415	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9497	113358415	33005607	9289	17001											
CSMD3	114788	broad.mit.edu	37	chr8	113418858	113418858	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatcctggattacaatcaaAaagaaccgatgaaccgactg	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113418858A>C	ENST00000297405.5	-	35	5948	c.5704T>G	c.(5704-5706)Ttt>Gtt	p.F1902V	CSMD3_ENST00000352409.3_Missense_Mutation_p.F1832V|CSMD3_ENST00000455883.2_Missense_Mutation_p.F1798V|CSMD3_ENST00000343508.3_Missense_Mutation_p.F1862V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1902	Sushi 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTACAATCAAAAAGAACCGAT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	True	8:113418858	0	C	113418858	A	C	113418858	3	2	88	1	0	0	0	0	1	0	0	0	3971	14	1	4	5567	4	CSMD3	8	113418858	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60443	113418858	32945164	9290	17002											
CSMD3	114788	broad.mit.edu	37	chr8	113504912	113504912	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggactctcgcagttttGctgtaaaacagtgttagtat	10	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113504912G>A	ENST00000297405.5	-	31	5328	c.5084C>T	c.(5083-5085)gCa>gTa	p.A1695V	CSMD3_ENST00000352409.3_Splice_Site_p.A1695V|CSMD3_ENST00000455883.2_Splice_Site_p.A1591V|CSMD3_ENST00000343508.3_Splice_Site_p.A1655V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1695	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCGCAGTTTTGCTGTAAAACA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	True	8:113504912	0	A	113504912	G	A	113504912	5	1	88	1	0	0	0	0	0	0	1	0	3971	1333	46	2	6203	2	CSMD3	8	113504912	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86054	113504912	32859110	9291	17003											
CSMD3	114788	broad.mit.edu	37	chr8	113518958	113518958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataacatagtctgcattgacGgtgatagtccagtcacagtc	9	9	2	2	rs139092367	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113518958G>A	ENST00000297405.5	-	29	5101	c.4857C>T	c.(4855-4857)acC>acT	p.T1619T	CSMD3_ENST00000352409.3_Silent_p.T1619T|CSMD3_ENST00000455883.2_Silent_p.T1515T|CSMD3_ENST00000343508.3_Silent_p.T1579T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1619	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCATTGACGGTGATAGTCC	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	False	8:113518958	0	A	113518958	G	A	113518958	2	1	88	1	0	0	0	0	0	0	0	1	3971	1103	39	1		1	CSMD3	8	113518958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14046	113518958	32845064	9292	17004											
CSMD3	114788	broad.mit.edu	37	chr8	113519014	113519014	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatgagggaagtttggtgAaagaataaagcctgaagatc	14	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113519014A>C	ENST00000297405.5	-	29	5045	c.4801T>G	c.(4801-4803)Tca>Gca	p.S1601A	CSMD3_ENST00000352409.3_Missense_Mutation_p.S1601A|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1497A|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1561A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1601	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTTTGGTGAAAGAATAAAG	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	True	8:113519014	0	C	113519014	A	C	113519014	3	2	88	1	0	0	0	0	1	0	0	0	3971	246	9	4	6494	4	CSMD3	8	113519014	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56	113519014	32845008	9293	17005											
CSMD3	114788	broad.mit.edu	37	chr8	113697892	113697892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatgcaatttaaattatttCcatacccttctgggtaatca	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113697892C>T	ENST00000297405.5	-	15	2469	c.2225G>A	c.(2224-2226)gGa>gAa	p.G742E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G742E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G638E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G702E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	742	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAATTATTTCCATACCCTTC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	True	8:113697892	0	T	113697892	C	T	113697892	3	4	88	1	0	0	0	0	1	0	0	0	3971	855	30	2	9126	2	CSMD3	8	113697892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178878	113697892	32666130	9294	17006											
CSMD3	114788	broad.mit.edu	37	chr8	113812486	113812486	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcactatcaagtctggtAcaaagcttccagtcagccta	7	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113812486A>G	ENST00000297405.5	-	13	2121	c.1877T>C	c.(1876-1878)gTa>gCa	p.V626A	CSMD3_ENST00000352409.3_Missense_Mutation_p.V626A|CSMD3_ENST00000455883.2_Missense_Mutation_p.V522A|CSMD3_ENST00000343508.3_Missense_Mutation_p.V586A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	626	CUB 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAGTCTGGTACAAAGCTTCC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	False	8:113812486	0	G	113812486	A	G	113812486	3	3	88	1	0	0	0	0	1	0	0	0	3971	391	14	4	9482	4	CSMD3	8	113812486	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	114594	113812486	32551536	9295	17007											
CSMD3	114788	broad.mit.edu	37	chr8	114186024	114186024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcaggtgagctgagggtgGccatcaaggatgtatccagt	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:114186024G>A	ENST00000297405.5	-	4	880	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CSMD3_ENST00000352409.3_Silent_p.G212G|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Silent_p.G212G|CSMD3_ENST00000343508.3_Silent_p.G172G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	212	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTGAGGGTGGCCATCAAGGA	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	False	8:114186024	0	A	114186024	G	A	114186024	2	1	88	1	0	0	0	0	0	0	0	1	3971	1190	42	2		2	CSMD3	8	114186024	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	373538	114186024	32177998	9296	17008											
CSMD3	114788	broad.mit.edu	37	chr8	114290828	114290828	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taccatcacttaccttcgtaAtataccttaaatccatgagc	3	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:114290828A>G	ENST00000297405.5	-	3	751	c.507T>C	c.(505-507)taT>taC	p.Y169Y	CSMD3_ENST00000352409.3_Silent_p.Y169Y|CSMD3_ENST00000455883.2_Silent_p.Y169Y|CSMD3_ENST00000343508.3_Silent_p.Y129Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	169	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCTTCGTAATATACCTTAA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	False	8:114290828	0	G	114290828	A	G	114290828	2	3	88	1	0	0	0	0	0	0	0	1	3971	108	4	4		4	CSMD3	8	114290828	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	104804	114290828	32073194	9297	17009											
TRPS1	7227	broad.mit.edu	37	chr8	116616583	116616583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcggaagtcacagaactgaCaattatagctcgttaccata	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:116616583C>T	ENST00000395715.3	-	4	2190	c.1613G>A	c.(1612-1614)tGt>tAt	p.C538Y	TRPS1_ENST00000520276.1_Missense_Mutation_p.C529Y|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.C525Y|TRPS1_ENST00000220888.5_Missense_Mutation_p.C525Y	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	525					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACAGAACTGACAATTATAGCT	0.463									Langer-Giedion syndrome				False	0	False	8:116616583	0	T	116616583	C	T	116616583	3	4	88	1	0	0	0	0	1	0	0	0	16676	478	17	2	2287	2	TRPS1	8	116616583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2325755	116616583	29747439	9298	17010											
TRPS1	7227	broad.mit.edu	37	chr8	116617112	116617112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaaaatgttgttctaattCggtggatgagttgcccatat	10	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:116617112C>T	ENST00000395715.3	-	4	1661	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	TRPS1_ENST00000520276.1_Missense_Mutation_p.E353K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E303K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E349K|TRPS1_ENST00000220888.5_Missense_Mutation_p.E349K	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	349					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E349K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGTTCTAATTCGGTGGATGAG	0.408									Langer-Giedion syndrome				False	0	False	8:116617112	0	T	116617112	C	T	116617112	3	4	88	1	0	0	0	0	1	0	0	0	16676	893	31	1	2816	1	TRPS1	8	116617112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	529	116617112	29746910	9299	17011											
EIF3H	8667	broad.mit.edu	37	chr8	117668207	117668207	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aattacaatcggcacttcttCaaacatgtactcaaaggtga	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117668207C>T	ENST00000521861.1	-	5	618	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	EIF3H_ENST00000276682.4_Missense_Mutation_p.E213K	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	199					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GGCACTTCTTCAAACATGTAC	0.338													False	0	True	8:117668207	0	T	117668207	C	T	117668207	3	4	88	1	0	0	0	0	1	0	0	0	5050	835	29	2	479	2	EIF3H	8	117668207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1051095	117668207	28695815	9300	17012											
RAD21	5885	broad.mit.edu	37	chr8	117862951	117862951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagctgacagatatttggaGgttcttctgggggaagctct	13	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117862951G>A	ENST00000297338.2	-	12	1813	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	RAD21_ENST00000518055.1_Missense_Mutation_p.P54L|RAD21_ENST00000523986.1_Missense_Mutation_p.P13L	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	509	Pro-rich.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GATATTTGGAGGTTCTTCTGG	0.383													False	0	False	8:117862951	0	A	117862951	G	A	117862951	3	1	88	1	0	0	0	0	1	0	0	0	13060	1000	35	2	381	2	RAD21	8	117862951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194744	117862951	28501071	9301	17013											
RAD21	5885	broad.mit.edu	37	chr8	117864872	117864872	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgaggaattcatccaAattatctgcctctcctcctt	4	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117864872A>G	ENST00000297338.2	-	10	1524	c.1237T>C	c.(1237-1239)Ttg>Ctg	p.L413L		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	413					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AATTCATCCAAATTATCTGCC	0.398													False	0	True	8:117864872	0	G	117864872	A	G	117864872	2	3	88	1	0	0	0	0	0	0	0	1	13060	11	1	4		4	RAD21	8	117864872	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1921	117864872	28499150	9302	17014											
RAD21	5885	broad.mit.edu	37	chr8	117864941	117864941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcggtgtaagacagcgtgTaaagagctattaaaaaaaaa	10	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117864941T>C	ENST00000297338.2	-	10	1455	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	390	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AGACAGCGTGTAAAGAGCtat	0.308													False	0	True	8:117864941	0	C	117864941	T	C	117864941	3	2	88	1	0	0	0	0	1	0	0	0	13060	1638	57	4	747	4	RAD21	8	117864941	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69	117864941	28499081	9303	17015											
RAD21	5885	broad.mit.edu	37	chr8	117878848	117878848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgagatgatactctccaCgctgctctctaaattacact	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117878848C>T	ENST00000297338.2	-	2	408	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	41					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ATACTCTCCACGCTGCTCTCT	0.388													False	0	False	8:117878848	0	T	117878848	C	T	117878848	3	4	88	1	0	0	0	0	1	0	0	0	13060	536	19	1	1826	1	RAD21	8	117878848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13907	117878848	28485174	9304	17016											
SLC30A8	169026	broad.mit.edu	37	chr8	118175760	118175760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaggacttctccatcttaCtcatggaaggtaggagtgat	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:118175760C>T	ENST00000427715.2	+	9	1107	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	SLC30A8_ENST00000519688.1_Missense_Mutation_p.L225F|SLC30A8_ENST00000521243.1_Missense_Mutation_p.L225F|SLC30A8_ENST00000456015.2_Missense_Mutation_p.L274F	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	274					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CTCCATCTTACTCATGGAAGG	0.428													False	0	False	8:118175760	0	T	118175760	C	T	118175760	3	4	88	1	0	0	0	0	1	0	0	0	14641	565	20	2	842	2	SLC30A8	8	118175760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	296912	118175760	28188262	9305	17017											
EXT1	2131	broad.mit.edu	37	chr8	118812091	118812091	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtattcatgcagctctgtcGctgggcaaagtggtcagggt	14	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:118812091G>A	ENST00000378204.2	-	11	2907	c.2101C>T	c.(2101-2103)Cga>Tga	p.R701*		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	701					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CAGCTCTGTCGCTGGGCAAAG	0.537			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				False	0	False	8:118812091	0	A	118812091	G	A	118812091	4	1	88	1	0	0	0	0	0	1	0	0	5356	1095	38	1	143	1	EXT1	8	118812091	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	636331	118812091	27551931	9306	17018											
EXT1	2131	broad.mit.edu	37	chr8	119122680	119122680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccccacgtcctcggtgtaGtcaggccaagtgccggaata	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119122680G>A	ENST00000378204.2	-	1	1412	c.606C>T	c.(604-606)gaC>gaT	p.D202D		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	202					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CCTCGGTGTAGTCAGGCCAAG	0.458			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				False	0	False	8:119122680	0	A	119122680	G	A	119122680	2	1	88	1	0	0	0	0	0	0	0	1	5356	1020	36	2		2	EXT1	8	119122680	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	310589	119122680	27241342	9307	17019											
EXT1	2131	broad.mit.edu	37	chr8	119122901	119122901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagaatgttttggtaactttCggcgattttctccccttttt	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119122901C>T	ENST00000378204.2	-	1	1191	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	129					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGGTAACTTTCGGCGATTTTC	0.507			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				False	0	True	8:119122901	0	T	119122901	C	T	119122901	3	4	88	1	0	0	0	0	1	0	0	0	5356	893	31	1	1899	1	EXT1	8	119122901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221	119122901	27241121	9308	17020											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119936933	119936933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagctttccatcaagctacGaagctgctcgaaggtgaggt	11	9	1	1	rs145316984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119936933G>A	ENST00000297350.4	-	5	1264	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	296	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ATCAAGCTACGAAGCTGCTCG	0.463													False	0	False	8:119936933	0	A	119936933	G	A	119936933	3	1	88	1	0	0	0	0	1	0	0	0	16367	1058	37	1	323	1	TNFRSF11B	8	119936933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	814032	119936933	26427089	9309	17021											
MAL2	114569	broad.mit.edu	37	chr8	120233931	120233931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacagcgtttttcttttcGctcctctttctgggcatgtt	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120233931G>A	ENST00000276681.6	+	3	339	c.237G>A	c.(235-237)tcG>tcA	p.S79S	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	79	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TTTTCTTTTCGCTCCTCTTTC	0.458													False	0	False	8:120233931	0	A	120233931	G	A	120233931	2	1	88	1	0	0	0	0	0	0	0	1	9267	1074	38	1		1	MAL2	8	120233931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296998	120233931	26130091	9310	17022											
NOV	4856	broad.mit.edu	37	chr8	120430340	120430340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcgatggggtcatctaccGcagtggagagaaatttcagc	13	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120430340G>A	ENST00000259526.3	+	3	580	c.353G>A	c.(352-354)cGc>cAc	p.R118H		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	118	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCATCTACCGCAGTGGAGAG	0.498													False	0	False	8:120430340	0	A	120430340	G	A	120430340	3	1	88	1	0	0	0	0	1	0	0	0	10621	1087	38	1	363	1	NOV	8	120430340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196409	120430340	25933682	9311	17023											
NOV	4856	broad.mit.edu	37	chr8	120430352	120430352	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catctaccgcagtggagagaAatttcagccaagctgcaaat	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120430352A>C	ENST00000259526.3	+	3	592	c.365A>C	c.(364-366)aAa>aCa	p.K122T		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	122	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGTGGAGAGAAATTTCAGCCA	0.512													False	0	True	8:120430352	0	C	120430352	A	C	120430352	3	2	88	1	0	0	0	0	1	0	0	0	10621	14	1	4	375	4	NOV	8	120430352	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12	120430352	25933670	9312	17024											
NOV	4856	broad.mit.edu	37	chr8	120435115	120435115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaagaagtcactcaaaGccatccacctgcagttcaag	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120435115G>A	ENST00000259526.3	+	5	1044	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	273	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCACTCAAAGCCATCCACCT	0.488													False	0	True	8:120435115	0	A	120435115	G	A	120435115	3	1	88	1	0	0	0	0	1	0	0	0	10621	971	34	2	835	2	NOV	8	120435115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4763	120435115	25928907	9313	17025											
ENPP2	0	broad.mit.edu	37	chr8	120569929	120569929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattttgattcgtcctctgaGctctgcaatggaaacagaac	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120569929G>T	ENST00000427067.2	-	26	2667	c.2487C>A	c.(2485-2487)agC>agA	p.S829R	ENPP2_ENST00000522826.1_Missense_Mutation_p.S833R|ENPP2_ENST00000259486.6_Missense_Mutation_p.S860R|ENPP2_ENST00000075322.6_Missense_Mutation_p.S808R|ENPP2_ENST00000522167.1_Missense_Mutation_p.S443R			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	808					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CGTCCTCTGAGCTCTGCAATG	0.443													False	0	False	8:120569929	0	T	120569929	G	T	120569929	3	4	88	1	0	0	0	0	1	0	0	0	5162	962	34	3	171	3	ENPP2	8	120569929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134814	120569929	25794093	9314	17026											
ENPP2	0	broad.mit.edu	37	chr8	120575129	120575129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgttgtcaggccggtgagGcaggatgaaggaggacacag	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120575129G>A	ENST00000427067.2	-	25	2632	c.2452C>T	c.(2452-2454)Cct>Tct	p.P818S	ENPP2_ENST00000522826.1_Missense_Mutation_p.P822S|ENPP2_ENST00000259486.6_Missense_Mutation_p.P849S|ENPP2_ENST00000075322.6_Missense_Mutation_p.P797S|ENPP2_ENST00000522167.1_Missense_Mutation_p.P432S			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	797					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGCCGGTGAGGCAGGATGAAG	0.483													False	0	False	8:120575129	0	A	120575129	G	A	120575129	3	1	88	1	0	0	0	0	1	0	0	0	5162	1203	42	2	210	2	ENPP2	8	120575129	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5200	120575129	25788893	9315	17027											
ENPP2	0	broad.mit.edu	37	chr8	120581568	120581568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaacacggacatcaggccGgacgcaactggtcagatggt	13	10	2	2	rs138793770		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120581568G>A	ENST00000427067.2	-	22	2203	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	ENPP2_ENST00000522826.1_Missense_Mutation_p.R679W|ENPP2_ENST00000259486.6_Missense_Mutation_p.R706W|ENPP2_ENST00000075322.6_Missense_Mutation_p.R654W|ENPP2_ENST00000522167.1_Missense_Mutation_p.R289W			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	654					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACATCAGGCCGGACGCAACTG	0.512													False	0	False	8:120581568	0	A	120581568	G	A	120581568	3	1	88	1	0	0	0	0	1	0	0	0	5162	1115	39	1	651	1	ENPP2	8	120581568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6439	120581568	25782454	9316	17028											
TAF2	6873	broad.mit.edu	37	chr8	120795700	120795700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatatcagtgagtgcaagcCgagatgctggagtagggaat	14	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120795700C>T	ENST00000378164.2	-	16	2331	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	678					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAGTGCAAGCCGAGATGCTGG	0.418													False	0	False	8:120795700	0	T	120795700	C	T	120795700	3	4	88	1	0	0	0	0	1	0	0	0	15606	652	23	1	1610	1	TAF2	8	120795700	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214132	120795700	25568322	9317	17029											
TAF2	6873	broad.mit.edu	37	chr8	120803660	120803660	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtattcccaggacagtgtAtgtggatgctttattgaaaa	10	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120803660A>G	ENST00000378164.2	-	11	1615	c.1317T>C	c.(1315-1317)caT>caC	p.H439H		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	439					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGGACAGTGTATGTGGATGCT	0.323													False	0	False	8:120803660	0	G	120803660	A	G	120803660	2	3	88	1	0	0	0	0	0	0	0	1	15606	446	16	4		4	TAF2	8	120803660	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7960	120803660	25560362	9318	17030											
DSCC1	79075	broad.mit.edu	37	chr8	120855907	120855907	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaggaactttaccaaaagAccatgattcagaatccacaa	5	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855907A>G	ENST00000313655.4	-	5	872	c.658T>C	c.(658-660)Tct>Cct	p.S220P		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	220					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTACCAAAAGACCATGATTCA	0.358													False	0	False	8:120855907	0	G	120855907	A	G	120855907	3	3	88	1	0	0	0	0	1	0	0	0	4800	275	10	4	543	4	DSCC1	8	120855907	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52247	120855907	25508115	9319	17031											
DSCC1	79075	broad.mit.edu	37	chr8	120855987	120855987	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcaagaatcctccaataaCctacaaatttcaaaagttat	2	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855987C>A	ENST00000313655.4	-	5	792	c.578G>T	c.(577-579)gGt>gTt	p.G193V		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	193					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCTCCAATAACCTACAAATTT	0.363													False	0	False	8:120855987	0	A	120855987	C	A	120855987	5	1	88	1	0	0	0	0	0	0	1	0	4800	521	18	3	623	3	DSCC1	8	120855987	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	120855987	25508035	9320	17032											
COL14A1	7373	broad.mit.edu	37	chr8	121262977	121262977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggcctcaggcttcagCgacgccctgacaggcatggt	12	15	2	1	rs113536778		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121262977C>T	ENST00000297848.3	+	22	2994	c.2724C>T	c.(2722-2724)agC>agT	p.S908S	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.S908S|COL14A1_ENST00000247781.3_Silent_p.S813S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	908	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGGCTTCAGCGACGCCCTGA	0.478													False	0	False	8:121262977	0	T	121262977	C	T	121262977	2	4	88	1	0	0	0	0	0	0	0	1	3694	767	27	1		1	COL14A1	8	121262977	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	406990	121262977	25101045	9321	17033											
MRPL13	28998	broad.mit.edu	37	chr8	121426282	121426282	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcttgtgtgtactcatctaGacgtttaggtatttttcgtg	9	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121426282G>A	ENST00000306185.3	-	6	754	c.463C>T	c.(463-465)Cta>Tta	p.L155L		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	155					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TACTCATCTAGACGTTTAGGT	0.328													False	0	False	8:121426282	0	A	121426282	G	A	121426282	2	1	88	1	0	0	0	0	0	0	0	1	9845	933	33	2		2	MRPL13	8	121426282	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163305	121426282	24937740	9322	17034											
SNTB1	6641	broad.mit.edu	37	chr8	121706136	121706136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacatagggcgtggcttctCgcatgtacttcactgcaagg	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121706136C>T	ENST00000395601.3	-	3	998	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.R195Q	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	195	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.R195L(1)|p.R195P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CGTGGCTTCTCGCATGTACTT	0.483													False	0	False	8:121706136	0	T	121706136	C	T	121706136	3	4	88	1	0	0	0	0	1	0	0	0	14952	884	31	1	1056	1	SNTB1	8	121706136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279854	121706136	24657886	9323	17035											
HAS2	3037	broad.mit.edu	37	chr8	122626577	122626577	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaactgatactggaatgagTcctatgaaattaacaacaat	6	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122626577T>C	ENST00000303924.4	-	4	1968	c.1431A>G	c.(1429-1431)ggA>ggG	p.G477G		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	477						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGGAATGAGTCCTATGAAAT	0.408													False	0	False	8:122626577	0	C	122626577	T	C	122626577	2	2	88	1	0	0	0	0	0	0	0	1	7009	1654	58	4		4	HAS2	8	122626577	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	920441	122626577	23737445	9324	17036											
HAS2	3037	broad.mit.edu	37	chr8	122641042	122641042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttttgcatgatgcagataCttttgttggacaagaccaat	8	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122641042C>A	ENST00000303924.4	-	2	1076	c.539G>T	c.(538-540)aGt>aTt	p.S180I		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	180						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GATGCAGATACTTTTGTTGGA	0.458													False	0	True	8:122641042	0	A	122641042	C	A	122641042	3	1	88	1	0	0	0	0	1	0	0	0	7009	565	20	3	1131	3	HAS2	8	122641042	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14465	122641042	23722980	9325	17037											
ZHX2	22882	broad.mit.edu	37	chr8	123963770	123963770	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catggctagcaaacgaaaatCtacaactccatgcatggttc	7	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123963770C>T	ENST00000314393.4	+	3	855	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	7						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAACGAAAATCTACAACTCCA	0.493													False	0	False	8:123963770	0	T	123963770	C	T	123963770	3	4	88	1	0	0	0	0	1	0	0	0	17759	913	32	2	22	2	ZHX2	8	123963770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1322728	123963770	22400252	9326	17038											
ZHX2	22882	broad.mit.edu	37	chr8	123965081	123965081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcacaccagccagtgaccGcaagaagacaaaggagcaga	11	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123965081G>A	ENST00000314393.4	+	3	2166	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	444	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCAGTGACCGCAAGAAGACA	0.617													False	0	False	8:123965081	0	A	123965081	G	A	123965081	3	1	88	1	0	0	0	0	1	0	0	0	17759	1087	38	1	1333	1	ZHX2	8	123965081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1311	123965081	22398941	9327	17039											
ZHX2	22882	broad.mit.edu	37	chr8	123965964	123965964	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaccccaaaaagctctgCgaagaggacttggagaagtt	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123965964C>T	ENST00000314393.4	+	3	3049	c.2214C>T	c.(2212-2214)tgC>tgT	p.C738C		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	738						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAAGCTCTGCGAAGAGGACT	0.532													False	0	False	8:123965964	0	T	123965964	C	T	123965964	2	4	88	1	0	0	0	0	0	0	0	1	17759	776	27	1		1	ZHX2	8	123965964	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	883	123965964	22398058	9328	17040											
DERL1	79139	broad.mit.edu	37	chr8	124054334	124054334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcgtgatcgccgggatgCtcctgaaccagtctccgatg	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124054334C>T	ENST00000259512.4	-	1	329	c.29G>A	c.(28-30)aGc>aAc	p.S10N	DERL1_ENST00000405944.3_Missense_Mutation_p.S10N|DERL1_ENST00000419562.2_Missense_Mutation_p.S10N	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	10					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGCCGGGATGCTCCTGAACCA	0.667													False	0	False	8:124054334	0	T	124054334	C	T	124054334	3	4	88	1	0	0	0	0	1	0	0	0	4476	797	28	2	758	2	DERL1	8	124054334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88370	124054334	22309688	9329	17041											
FAM83A	84985	broad.mit.edu	37	chr8	124219674	124219674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtacccgaagtgtgtccGcgtcttcagggccctgtagc	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124219674G>A	ENST00000518448.1	+	5	3065	c.1051G>A	c.(1051-1053)Gcg>Acg	p.A351T	FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.A351T|FAM83A_ENST00000276699.6_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	351	Ser-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGTGTGTCCGCGTCTTCAGG	0.731													False	0	False	8:124219674	0	A	124219674	G	A	124219674	3	1	88	1	0	0	0	0	1	0	0	0	5673	1087	38	1	1065	1	FAM83A	8	124219674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165340	124219674	22144348	9330	17042											
C8orf76	84933	broad.mit.edu	37	chr8	124243660	124243660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catttttctggctattactgCtattcgcttccacagaaaat	5	10	1	1	rs138956285		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124243660C>T	ENST00000276704.4	-	4	746	c.695G>A	c.(694-696)aGc>aAc	p.S232N	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.S200N	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	232							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCTATTACTGCTATTCGCTTC	0.383													False	0	False	8:124243660	0	T	124243660	C	T	124243660	3	4	88	1	0	0	0	0	1	0	0	0	2457	797	28	2	459	2	C8orf76	8	124243660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23986	124243660	22120362	9331	17043											
KLHL38	340359	broad.mit.edu	37	chr8	124664939	124664939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggtcaatgcctttcagCtgcactttggcttcactctt	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124664939C>T	ENST00000325995.7	-	1	251	c.228G>A	c.(226-228)caG>caA	p.Q76Q	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	76	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGCCTTTCAGCTGCACTTTGG	0.592													False	0	False	8:124664939	0	T	124664939	C	T	124664939	2	4	88	1	0	0	0	0	0	0	0	1	8440	796	28	2		2	KLHL38	8	124664939	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	421279	124664939	21699083	9332	17044											
KLHL38	340359	broad.mit.edu	37	chr8	124665022	124665022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaggccagcacgttgcGgtggcaggggatctcccggg	19	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124665022G>A	ENST00000325995.7	-	1	168	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	49	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGCACGTTGCGGTGGCAGGGG	0.572													False	0	False	8:124665022	0	A	124665022	G	A	124665022	3	1	88	1	0	0	0	0	1	0	0	0	8440	1116	39	1	1612	1	KLHL38	8	124665022	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	124665022	21699000	9333	17045											
FAM91A1	157769	broad.mit.edu	37	chr8	124787488	124787488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatctatcggatattatgGtgaaaggcttgaggataaca	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124787488G>A	ENST00000334705.7	+	3	505	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	FAM91A1_ENST00000521166.1_Missense_Mutation_p.V87M	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	87										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GGATATTATGGTGAAAGGCTT	0.423													False	0	False	8:124787488	0	A	124787488	G	A	124787488	3	1	88	1	0	0	0	0	1	0	0	0	5691	1261	44	2	269	2	FAM91A1	8	124787488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122466	124787488	21576534	9334	17046											
FAM91A1	157769	broad.mit.edu	37	chr8	124792281	124792281	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcatcgattcaggccctcaActctctggatcactagatta	6	12	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124792281A>C	ENST00000334705.7	+	7	852	c.606A>C	c.(604-606)caA>caC	p.Q202H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.Q202H	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	202										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAGGCCCTCAACTCTCTGGAT	0.318													False	0	True	8:124792281	0	C	124792281	A	C	124792281	3	2	88	1	0	0	0	0	1	0	0	0	5691	40	2	4	632	4	FAM91A1	8	124792281	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4793	124792281	21571741	9335	17047											
FER1L6	654463	broad.mit.edu	37	chr8	124992756	124992756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacctgtatggctcgcccaGgaaccacagtctgatggatg	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124992756G>A	ENST00000522917.1	+	11	1321	c.1115G>A	c.(1114-1116)aGg>aAg	p.R372K	FER1L6_ENST00000399018.1_Missense_Mutation_p.R372K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	372						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGCTCGCCCAGGAACCACAGT	0.468											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	8:124992756	0	A	124992756	G	A	124992756	3	1	88	1	0	0	0	0	1	0	0	0	5855	1000	35	2	1153	2	FER1L6	8	124992756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200475	124992756	21371266	9336	17048											
FER1L6	654463	broad.mit.edu	37	chr8	125047562	125047562	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtctgtgcaagcaaaagtCgacgtgtacctgtggctggg	15	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125047562C>T	ENST00000522917.1	+	19	2537	c.2331C>T	c.(2329-2331)gtC>gtT	p.V777V	FER1L6_ENST00000399018.1_Silent_p.V777V|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	777						integral to membrane		p.V777V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCAAAAGTCGACGTGTACC	0.498													False	0	False	8:125047562	0	T	125047562	C	T	125047562	2	4	88	1	0	0	0	0	0	0	0	1	5855	871	31	1		1	FER1L6	8	125047562	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54806	125047562	21316460	9337	17049											
FER1L6	654463	broad.mit.edu	37	chr8	125072466	125072466	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcccacccgttgagccaccaGacatcacccagatctacccg	6	19	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125072466G>A	ENST00000522917.1	+	23	3126	c.2920G>A	c.(2920-2922)Gac>Aac	p.D974N	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D974N|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	974						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGAGCCACCAGACATCACCCA	0.572													False	0	False	8:125072466	0	A	125072466	G	A	125072466	3	1	88	1	0	0	0	0	1	0	0	0	5855	942	33	2	3006	2	FER1L6	8	125072466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24904	125072466	21291556	9338	17050											
FER1L6	654463	broad.mit.edu	37	chr8	125131850	125131850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccttccccctcagccGcccagacacctccttttcgt	4	21	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125131850G>A	ENST00000522917.1	+	41	5599	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1798H|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1798						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCCTCAGCCGCCCAGACACC	0.473													False	0	True	8:125131850	0	A	125131850	G	A	125131850	3	1	88	1	0	0	0	0	1	0	0	0	5855	1087	38	1	5551	1	FER1L6	8	125131850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59384	125131850	21232172	9339	17051											
NDUFB9	4715	broad.mit.edu	37	chr8	125555516	125555516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgagagatacgattgctAcaaggtaggtgagaattatg	12	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125555516A>G	ENST00000522532.1	+	2	337	c.290A>G	c.(289-291)tAc>tGc	p.Y97C	NDUFB9_ENST00000518008.1_Missense_Mutation_p.Y97C|NDUFB9_ENST00000517367.1_Missense_Mutation_p.Y86C|NDUFB9_ENST00000276689.3_Missense_Mutation_p.Y97C			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	97					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	TACGATTGCTACAAGGTAGGT	0.493													False	0	False	8:125555516	0	G	125555516	A	G	125555516	3	3	88	1	0	0	0	0	1	0	0	0	10356	391	14	4	296	4	NDUFB9	8	125555516	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	423666	125555516	20808506	9340	17052											
MTSS1	9788	broad.mit.edu	37	chr8	125575120	125575120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaggacacgctggacagcCtcacaggagcctgctgggcc	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125575120C>A	ENST00000518547.1	-	10	1411	c.938G>T	c.(937-939)aGg>aTg	p.R313M	MTSS1_ENST00000325064.5_Missense_Mutation_p.R317M|MTSS1_ENST00000395508.2_Missense_Mutation_p.R47M|MTSS1_ENST00000431961.2_Missense_Mutation_p.R113M|MTSS1_ENST00000354184.4_Missense_Mutation_p.R113M|MTSS1_ENST00000524090.1_Missense_Mutation_p.R203M|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.R313M	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	313	Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTGGACAGCCTCACAGGAGC	0.622													False	0	False	8:125575120	0	A	125575120	C	A	125575120	3	1	88	1	0	0	0	0	1	0	0	0	10029	681	24	3	1349	3	MTSS1	8	125575120	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19604	125575120	20788902	9341	17053											
MTSS1	9788	broad.mit.edu	37	chr8	125580657	125580657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagagatgaaggtacagaatCggccacgttcttcaatcaaa	9	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125580657C>T	ENST00000518547.1	-	7	1054	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	MTSS1_ENST00000325064.5_Missense_Mutation_p.R198Q|MTSS1_ENST00000431961.2_5'UTR|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000524090.1_Missense_Mutation_p.R84Q|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.R194Q	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	194	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGTACAGAATCGGCCACGTTC	0.438													False	0	False	8:125580657	0	T	125580657	C	T	125580657	3	4	88	1	0	0	0	0	1	0	0	0	10029	884	31	1	1718	1	MTSS1	8	125580657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5537	125580657	20783365	9342	17054											
SQLE	6713	broad.mit.edu	37	chr8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcttcttttgggagacGcatataatatgaggcatcca	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	409					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353													False	0	False	8:126030321	0	A	126030321	G	A	126030321	3	1	88	1	0	0	0	0	1	0	0	0	15210	1087	38	1	1154	1	SQLE	8	126030321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	449664	126030321	20333701	9343	17055											
KIAA0196	9897	broad.mit.edu	37	chr8	126051140	126051140	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatataaaagtgtgttatCttctttggggtaaggaagtg	11	3	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126051140C>A	ENST00000318410.7	-	25	3365	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	KIAA0196_ENST00000517845.1_Missense_Mutation_p.D858Y	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1006					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGTGTGTTATCTTCTTTGGGG	0.423													False	0	False	8:126051140	0	A	126051140	C	A	126051140	3	1	88	1	0	0	0	0	1	0	0	0	8211	913	32	3	483	3	KIAA0196	8	126051140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20819	126051140	20312882	9344	17056											
KIAA0196	9897	broad.mit.edu	37	chr8	126093973	126093973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttggtcaatgaccagtaGcataactccatataagtaca	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126093973G>A	ENST00000318410.7	-	5	797	c.448C>T	c.(448-450)Cta>Tta	p.L150L	KIAA0196_ENST00000517845.1_Silent_p.L2L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	150					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATGACCAGTAGCATAACTCCA	0.408													False	0	False	8:126093973	0	A	126093973	G	A	126093973	2	1	88	1	0	0	0	0	0	0	0	1	8211	962	34	2		2	KIAA0196	8	126093973	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42833	126093973	20270049	9345	17057											
ASAP1	50807	broad.mit.edu	37	chr8	131146542	131146542	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatttcaaaactacttacGctacataatcctgctcatct	2	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131146542G>A	ENST00000357668.1	-	14	1244	c.1217C>T	c.(1216-1218)gCa>gTa	p.A406V	ASAP1_ENST00000518721.1_Splice_Site_p.A406V			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	406	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTACTTACGCTACATAATC	0.328													False	0	False	8:131146542	0	A	131146542	G	A	131146542	5	1	88	1	0	0	0	0	0	0	1	0	1014	1101	38	1	2236	1	ASAP1	8	131146542	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5052569	131146542	15217480	9346	17058											
ADCY8	114	broad.mit.edu	37	chr8	131795943	131795943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgctactcaccaatccGgagttcaaaattgttgaatg	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131795943G>A	ENST00000286355.5	-	17	5354	c.3262C>T	c.(3262-3264)Cgg>Tgg	p.R1088W	ADCY8_ENST00000377928.3_Missense_Mutation_p.R957W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1088					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCACCAATCCGGAGTTCAAAA	0.512										HNSCC(32;0.087)			False	0	False	8:131795943	0	A	131795943	G	A	131795943	3	1	88	1	0	0	0	0	1	0	0	0	300	1115	39	1	501	1	ADCY8	8	131795943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	649401	131795943	14568079	9347	17059											
ADCY8	114	broad.mit.edu	37	chr8	131859759	131859759	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtcaaaatcacaccacaGctgcggattaaaaaaaaaaa	5	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131859759G>A	ENST00000286355.5	-	11	4505	c.2413C>T	c.(2413-2415)Ctg>Ttg	p.L805L	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	805					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCACACCACAGCTGCGGATTa	0.388										HNSCC(32;0.087)			False	0	False	8:131859759	0	A	131859759	G	A	131859759	5	1	88	1	0	0	0	0	0	0	1	0	300	985	34	2	1374	2	ADCY8	8	131859759	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63816	131859759	14504263	9348	17060											
EFR3A	23167	broad.mit.edu	37	chr8	132952824	132952824	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attccctgaagatccaaaagTaatttgatctacatctactg	5	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132952824T>C	ENST00000254624.5	+	2	312		c.e2+2		EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)							plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GATCCAAAAGTAATTTGATCT	0.428													False	0	False	8:132952824	0	C	132952824	T	C	132952824	5	2	88	1	0	0	0	0	0	0	1	0	4988	1652	57	4	95	4	EFR3A	8	132952824	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1093065	132952824	13411198	9349	17061											
EFR3A	23167	broad.mit.edu	37	chr8	132980547	132980547	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtctccttcaggctcaGtattctcaccatgtgatcca	6	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132980547G>T	ENST00000254624.5	+	9	1086	c.861G>T	c.(859-861)caG>caT	p.Q287H	EFR3A_ENST00000519656.1_Missense_Mutation_p.Q251H|EFR3A_ENST00000334503.4_Missense_Mutation_p.Q287H	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	287						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTCAGGCTCAGTATTCTCACC	0.413													False	0	False	8:132980547	0	T	132980547	G	T	132980547	3	4	88	1	0	0	0	0	1	0	0	0	4988	1020	36	3	895	3	EFR3A	8	132980547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27723	132980547	13383475	9350	17062											
EFR3A	23167	broad.mit.edu	37	chr8	132982776	132982776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacatctgcgtctcagcGttgaattcgaagcaaatgat	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132982776G>A	ENST00000254624.5	+	10	1270	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	EFR3A_ENST00000519656.1_Missense_Mutation_p.V313I|EFR3A_ENST00000334503.4_Missense_Mutation_p.V349I	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	349						plasma membrane	binding	p.S348fs*15(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCGTCTCAGCGTTGAATTCGA	0.398													False	0	False	8:132982776	0	A	132982776	G	A	132982776	3	1	88	1	0	0	0	0	1	0	0	0	4988	1145	40	1	1083	1	EFR3A	8	132982776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2229	132982776	13381246	9351	17063											
EFR3A	23167	broad.mit.edu	37	chr8	132996489	132996489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttgctcttataactaTtgaactggctaatgaagaag	7	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132996489T>C	ENST00000254624.5	+	15	1904	c.1679T>C	c.(1678-1680)aTt>aCt	p.I560T	EFR3A_ENST00000519656.1_Missense_Mutation_p.I524T|EFR3A_ENST00000334503.4_Missense_Mutation_p.I560T	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	560						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTTATAACTATTGAACTGGCT	0.363													False	0	False	8:132996489	0	C	132996489	T	C	132996489	3	2	88	1	0	0	0	0	1	0	0	0	4988	1493	52	4	1737	4	EFR3A	8	132996489	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13713	132996489	13367533	9352	17064											
OC90	729330	broad.mit.edu	37	chr8	133053837	133053837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaaccatagtcttcaaaGtctcgggggcagagaccagc	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133053837G>A	ENST00000262283.5	-	8	966	c.867C>T	c.(865-867)gaC>gaT	p.D289D	OC90_ENST00000254627.3_Silent_p.D93D|OC90_ENST00000603859.1_Silent_p.D93D|OC90_ENST00000443356.2_Silent_p.D93D			Q02509	OC90_HUMAN	otoconin 90	93					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGTCTTCAAAGTCTCGGGGGC	0.512													False	0	True	8:133053837	0	A	133053837	G	A	133053837	2	1	88	1	0	0	0	0	0	0	0	1	10882	1020	36	2		2	OC90	8	133053837	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57348	133053837	13310185	9353	17065											
KCNQ3	3786	broad.mit.edu	37	chr8	133187774	133187774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtgcatccacctctgGgacgtctttctcaaccaggt	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133187774G>A	ENST00000388996.4	-	5	1279	c.859C>T	c.(859-861)Cca>Tca	p.P287S	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P287S|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P167S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	287					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCCACCTCTGGGACGTCTTTC	0.502													False	0	True	8:133187774	0	A	133187774	G	A	133187774	3	1	88	1	0	0	0	0	1	0	0	0	8134	1232	43	2	1803	2	KCNQ3	8	133187774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133937	133187774	13176248	9354	17066											
LRRC6	23639	broad.mit.edu	37	chr8	133627315	133627315	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtccaggatgatctgctTttcgttatctttcaaagaga	9	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133627315T>G	ENST00000519595.1	-	8	1041	c.943A>C	c.(943-945)Aag>Cag	p.K315Q	LRRC6_ENST00000250173.1_Missense_Mutation_p.K315Q|LRRC6_ENST00000518642.1_Missense_Mutation_p.K315Q			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	315	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATGATCTGCTTTTCGTTATCT	0.313													False	0	True	8:133627315	0	G	133627315	T	G	133627315	3	3	88	1	0	0	0	0	1	0	0	0	9078	1850	64	4	477	4	LRRC6	8	133627315	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	439541	133627315	12736707	9355	17067											
LRRC6	23639	broad.mit.edu	37	chr8	133645086	133645086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtttcctctgagcctcttCcttgagtttggctcgtttaa	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133645086C>T	ENST00000519595.1	-	5	651	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000250173.1_Missense_Mutation_p.E185K|LRRC6_ENST00000518642.1_Missense_Mutation_p.E185K			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	185						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGAGCCTCTTCCTTGAGTTTG	0.423													False	0	False	8:133645086	0	T	133645086	C	T	133645086	3	4	88	1	0	0	0	0	1	0	0	0	9078	864	30	2	879	2	LRRC6	8	133645086	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17771	133645086	12718936	9356	17068											
PHF20L1	51105	broad.mit.edu	37	chr8	133816275	133816275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcctacatctagtgaaacatTtggtacaaaatacattctta	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133816275T>G	ENST00000395386.2	+	7	1018	c.719T>G	c.(718-720)tTt>tGt	p.F240C	PHF20L1_ENST00000395376.1_Missense_Mutation_p.F244C|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Missense_Mutation_p.F214C|PHF20L1_ENST00000395390.2_Missense_Mutation_p.F214C|PHF20L1_ENST00000395379.1_Missense_Mutation_p.F240C	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	240							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGTGAAACATTTGGTACAAAA	0.353													False	0	True	8:133816275	0	G	133816275	T	G	133816275	3	3	88	1	0	0	0	0	1	0	0	0	11901	1841	64	4	741	4	PHF20L1	8	133816275	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	171189	133816275	12547747	9357	17069											
PHF20L1	51105	broad.mit.edu	37	chr8	133827072	133827072	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaccactttccccagaatTaatacaagtcgaggatttga	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133827072T>G	ENST00000395386.2	+	10	1420	c.1121T>G	c.(1120-1122)tTa>tGa	p.L374*	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.L349*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	374							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCCCCAGAATTAATACAAGTC	0.368													False	0	False	8:133827072	0	G	133827072	T	G	133827072	4	3	88	1	0	0	0	0	0	1	0	0	11901	1764	61	4	1161	4	PHF20L1	8	133827072	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10797	133827072	12536950	9358	17070											
TG	7038	broad.mit.edu	37	chr8	133919108	133919108	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtagcctggagagcggacgCtgggagtcacagctgcctca	15	11	2	1	rs61747463		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133919108C>A	ENST00000220616.4	+	17	3850	c.3810C>A	c.(3808-3810)cgC>cgA	p.R1270R	TG_ENST00000377869.1_Silent_p.R1270R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1270					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAGCGGACGCTGGGAGTCAC	0.642													False	0	False	8:133919108	0	A	133919108	C	A	133919108	2	1	88	1	0	0	0	0	0	0	0	1	15895	784	28	3		3	TG	8	133919108	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92036	133919108	12444914	9359	17071											
TG	7038	broad.mit.edu	37	chr8	133980078	133980078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtcagctcgcagagaTaacagagagtgcatccttgt	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133980078T>C	ENST00000220616.4	+	31	5766	c.5726T>C	c.(5725-5727)aTa>aCa	p.I1909T	TG_ENST00000542445.1_Missense_Mutation_p.I279T|TG_ENST00000377869.1_Missense_Mutation_p.I1852T|TG_ENST00000519543.1_Missense_Mutation_p.I63T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1909					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCGCAGAGATAACAGAGAGT	0.502													False	0	False	8:133980078	0	C	133980078	T	C	133980078	3	2	88	1	0	0	0	0	1	0	0	0	15895	1406	49	4	5848	4	TG	8	133980078	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	60970	133980078	12383944	9360	17072											
TG	7038	broad.mit.edu	37	chr8	134025901	134025901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaacccaacctggggctGtgagatgtatgttctatgct	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134025901G>A	ENST00000220616.4	+	37	6494	c.6454G>A	c.(6454-6456)Gtg>Atg	p.V2152M	TG_ENST00000542445.1_Missense_Mutation_p.V522M|TG_ENST00000377869.1_Missense_Mutation_p.V2095M|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.V285M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2152					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.V2152L(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCTGGGGCTGTGAGATGTAT	0.517													False	0	False	8:134025901	0	A	134025901	G	A	134025901	3	1	88	1	0	0	0	0	1	0	0	0	15895	1377	48	2	6600	2	TG	8	134025901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45823	134025901	12338121	9361	17073											
SLA	6503	broad.mit.edu	37	chr8	134060123	134060123	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaggagccgacctttgtgtCtggcagctgcagcagctcct	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134060123C>T	ENST00000338087.5	-	6	1123	c.304G>A	c.(304-306)Gac>Aac	p.D102N	SLA_ENST00000517648.1_Missense_Mutation_p.D119N|SLA_ENST00000427060.2_Missense_Mutation_p.D142N|SLA_ENST00000395352.3_Missense_Mutation_p.D119N|TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000524345.1_5'UTR|TG_ENST00000519543.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	102	SH2.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			ACCTTTGTGTCTGGCAGCTGC	0.572													False	0	False	8:134060123	0	T	134060123	C	T	134060123	3	4	88	1	0	0	0	0	1	0	0	0	14444	913	32	2	542	2	SLA	8	134060123	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34222	134060123	12303899	9362	17074											
TG	7038	broad.mit.edu	37	chr8	134144149	134144149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggagaagagcctgtcGctgaaaatcatgcagtactt	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134144149G>A	ENST00000220616.4	+	46	7996	c.7956G>A	c.(7954-7956)tcG>tcA	p.S2652S	TG_ENST00000542445.1_Silent_p.S1022S|TG_ENST00000377869.1_Silent_p.S2595S|TG_ENST00000519543.1_Silent_p.S785S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2652					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.S2652S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAGCCTGTCGCTGAAAATCA	0.507													False	0	False	8:134144149	0	A	134144149	G	A	134144149	2	1	88	1	0	0	0	0	0	0	0	1	15895	1074	38	1		1	TG	8	134144149	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84026	134144149	12219873	9363	17075											
ST3GAL1	6482	broad.mit.edu	37	chr8	134477178	134477178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaacatcagcttcaaaccCtgccgtgggcgccttgttca	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134477178C>A	ENST00000319914.5	-	6	1553	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.G176W|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.G176W|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.G176W			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	176					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCTTCAAACCCTGCCGTGGGC	0.577													False	0	True	8:134477178	0	A	134477178	C	A	134477178	3	1	88	1	0	0	0	0	1	0	0	0	15296	681	24	3	512	3	ST3GAL1	8	134477178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333029	134477178	11886844	9364	17076											
ST3GAL1	6482	broad.mit.edu	37	chr8	134478233	134478233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcagcgccggcagcccaccGacctcttctccagcataggg	11	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134478233G>A	ENST00000319914.5	-	5	1434	c.407C>T	c.(406-408)tCg>tTg	p.S136L	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.S136L|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.S136L|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.S136L			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	136					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCAGCCCACCGACCTCTTCTC	0.572													False	0	False	8:134478233	0	A	134478233	G	A	134478233	3	1	88	1	0	0	0	0	1	0	0	0	15296	1059	37	1	635	1	ST3GAL1	8	134478233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1055	134478233	11885789	9365	17077											
ZFAT	57623	broad.mit.edu	37	chr8	135614146	135614146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcagcatgagcctctgCggaggaggtatcatttttca	13	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135614146C>T	ENST00000520727.1	-	7	2079	c.1780G>A	c.(1780-1782)Gca>Aca	p.A594T	ZFAT_ENST00000520214.1_Missense_Mutation_p.A594T|ZFAT_ENST00000429442.2_Missense_Mutation_p.A594T|ZFAT_ENST00000377838.3_Missense_Mutation_p.A606T|ZFAT_ENST00000520356.1_Missense_Mutation_p.A594T|ZFAT_ENST00000523399.1_Missense_Mutation_p.A544T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.A606T(1)|p.A594T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGAGCCTCTGCGGAGGAGGTA	0.532													False	0	False	8:135614146	0	T	135614146	C	T	135614146	3	4	88	1	0	0	0	0	1	0	0	0	17715	768	27	1	1959	1	ZFAT	8	135614146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1135913	135614146	10749876	9366	17078											
ZFAT	57623	broad.mit.edu	37	chr8	135614438	135614438	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtcccccagagcttcttgCtggatgtccccaccaggttc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135614438C>A	ENST00000520727.1	-	7	1787	c.1488G>T	c.(1486-1488)caG>caT	p.Q496H	ZFAT_ENST00000520214.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000429442.2_Missense_Mutation_p.Q496H|ZFAT_ENST00000377838.3_Missense_Mutation_p.Q508H|ZFAT_ENST00000520356.1_Missense_Mutation_p.Q496H|ZFAT_ENST00000523399.1_Missense_Mutation_p.Q446H	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GAGCTTCTTGCTGGATGTCCC	0.602													False	0	False	8:135614438	0	A	135614438	C	A	135614438	3	1	88	1	0	0	0	0	1	0	0	0	17715	796	28	3	2251	3	ZFAT	8	135614438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	292	135614438	10749584	9367	17079											
ZFAT	57623	broad.mit.edu	37	chr8	135615146	135615146	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accttgttgcagtattcacaAgtgaagattttgagctgagt	10	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135615146A>C	ENST00000520727.1	-	7	1079	c.780T>G	c.(778-780)acT>acG	p.T260T	ZFAT_ENST00000520214.1_Silent_p.T260T|ZFAT_ENST00000429442.2_Silent_p.T260T|ZFAT_ENST00000377838.3_Silent_p.T272T|ZFAT_ENST00000520356.1_Silent_p.T260T|ZFAT_ENST00000523399.1_Silent_p.T210T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGTATTCACAAGTGAAGATTT	0.478													False	0	False	8:135615146	0	C	135615146	A	C	135615146	2	2	88	1	0	0	0	0	0	0	0	1	17715	59	3	4		4	ZFAT	8	135615146	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	708	135615146	10748876	9368	17080											
COL22A1	169044	broad.mit.edu	37	chr8	139635983	139635984	+	Frame_Shift_Ins	INS	-	-	A													gagtcctttaccggctctccINSagggggacccggctttccat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139635983_139635984insA	ENST00000303045.6	-	52	4208_4209	c.3762_3763insT	c.(3760-3765)cctggafs	p.G1255fs	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Frame_Shift_Ins_p.G1235fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1255	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCGGCTCTCCAGGGGGACCCG	0.436										HNSCC(7;0.00092)			False	1	True	8:139635983	0	A	139635984	-	A	139635983	7	5	88	1	0	1	1	0	0	0	0	0	3704	603	21	0	1173	0	COL22A1	8	139635983	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	4020837	139635983	6728039	9369	17081											
COL22A1	169044	broad.mit.edu	37	chr8	139697494	139697494	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggcccagggagcccaGgagcaccaggatctcccctg	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139697494G>T	ENST00000303045.6	-	38	3370	c.2924C>A	c.(2923-2925)cCt>cAt	p.P975H	COL22A1_ENST00000435777.1_Missense_Mutation_p.P975H|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	975	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGGAGCCCAGGAGCACCAGG	0.582										HNSCC(7;0.00092)			False	0	False	8:139697494	0	T	139697494	G	T	139697494	3	4	88	1	0	0	0	0	1	0	0	0	3704	1000	35	3	2068	3	COL22A1	8	139697494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61511	139697494	6666528	9370	17082											
COL22A1	169044	broad.mit.edu	37	chr8	139763703	139763703	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagagagtttacttactcGgagaccttgcaaaccaggag	10	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139763703G>A	ENST00000303045.6	-	22	2529	c.2083C>T	c.(2083-2085)Cga>Tga	p.R695*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R695*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	695	Collagen-like 4.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTACTTACTCGGAGACCTTGC	0.448										HNSCC(7;0.00092)			False	0	False	8:139763703	0	A	139763703	G	A	139763703	4	1	88	1	0	0	0	0	0	1	0	0	3704	1124	39	1	2973	1	COL22A1	8	139763703	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66209	139763703	6600319	9371	17083											
COL22A1	169044	broad.mit.edu	37	chr8	139825183	139825183	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcgagagtctgctcaccGgacccgaggggatatcacaa	13	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139825183G>A	ENST00000303045.6	-	8	1771	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	COL22A1_ENST00000435777.1_Splice_Site_p.P442L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	442					cell adhesion	collagen|cytoplasm	structural molecule activity	p.P442R(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTGCTCACCGGACCCGAGGG	0.537										HNSCC(7;0.00092)			False	0	False	8:139825183	0	A	139825183	G	A	139825183	5	1	88	1	0	0	0	0	0	0	1	0	3704	1130	39	1	3787	1	COL22A1	8	139825183	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61480	139825183	6538839	9372	17084											
COL22A1	169044	broad.mit.edu	37	chr8	139890402	139890402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccgtggtgggccggtcGctgtagcgcacgacccccac	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139890402G>A	ENST00000303045.6	-	3	695	c.249C>T	c.(247-249)agC>agT	p.S83S	COL22A1_ENST00000435777.1_Silent_p.S83S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	83	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGGCCGGTCGCTGTAGCGCA	0.677										HNSCC(7;0.00092)			False	0	False	8:139890402	0	A	139890402	G	A	139890402	2	1	88	1	0	0	0	0	0	0	0	1	3704	1078	38	1		1	COL22A1	8	139890402	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65219	139890402	6473620	9373	17085											
KCNK9	51305	broad.mit.edu	37	chr8	140714976	140714976	+	Missense_Mutation	SNP	G	G	A													tggtggtgatgaccgtgatcGcaaagtagaaggagccggcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:140714976G>A	ENST00000520439.1	-	1	323	c.260C>T	c.(259-261)gCg>gTg	p.A87V	KCNK9_ENST00000303015.1_Missense_Mutation_p.A87V	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	87						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GACCGTGATCGCAAAGTAGAA	0.701													False	0	False	8:140714976	0	A	140714976	G	A	140714976	3	1	88	1	0	0	0	0	1	0	0	0	8122	1087	38	1	872	1	KCNK9	8	140714976	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	824574	140714976	5649046	9374	17086	205	2									
KCNK9	51305	broad.mit.edu	37	chr8	140714984	140714984	+	Missense_Mutation	SNP	G	G	T													atgaccgtgatcgcaaagtaGaaggagccggcgaatttcca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:140714984G>T	ENST00000520439.1	-	1	315	c.252C>A	c.(250-252)ttC>ttA	p.F84L	KCNK9_ENST00000303015.1_Missense_Mutation_p.F84L	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	84						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TCGCAAAGTAGAAGGAGCCGG	0.677													False	0	False	8:140714984	0	T	140714984	G	T	140714984	3	4	88	1	0	0	0	0	1	0	0	0	8122	933	33	3	880	3	KCNK9	8	140714984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	140714984	5649038	9375	17087	205	2									
TRAPPC9	83696	broad.mit.edu	37	chr8	141381095	141381095	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgggatccagcgacagaCtgtagccgggcagcgtttcc	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141381095C>A	ENST00000389328.4	-	8	1627	c.1613G>T	c.(1612-1614)aGt>aTt	p.S538I	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S431I|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S440I	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	440					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAGCGACAGACTGTAGCCGGG	0.597													False	0	False	8:141381095	0	A	141381095	C	A	141381095	3	1	88	1	0	0	0	0	1	0	0	0	16548	565	20	3	2191	3	TRAPPC9	8	141381095	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	666111	141381095	4982927	9376	17088											
TRAPPC9	83696	broad.mit.edu	37	chr8	141461131	141461131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcccgaagacaaagagCcgggagtcatacagtgtgga	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141461131C>T	ENST00000389328.4	-	2	650	c.636G>A	c.(634-636)cgG>cgA	p.R212R	TRAPPC9_ENST00000389327.3_Silent_p.R114R|TRAPPC9_ENST00000438773.2_Silent_p.R114R	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	114					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGACAAAGAGCCGGGAGTCAT	0.582													False	0	False	8:141461131	0	T	141461131	C	T	141461131	2	4	88	1	0	0	0	0	0	0	0	1	16548	726	26	2		2	TRAPPC9	8	141461131	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80036	141461131	4902891	9377	17089											
CHRAC1	54108	broad.mit.edu	37	chr8	141524478	141524478	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgttctaggagctctttgTtcaatgcctagccacctatt	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141524478T>G	ENST00000220913.5	+	2	360	c.158T>G	c.(157-159)gTt>gGt	p.V53G	CHRAC1_ENST00000519533.1_Intron	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	53					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			GAGCTCTTTGTTCAATGCCTA	0.353													False	0	False	8:141524478	0	G	141524478	T	G	141524478	3	3	88	1	0	0	0	0	1	0	0	0	3394	1725	60	4	164	4	CHRAC1	8	141524478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63347	141524478	4839544	9378	17090											
PTK2	5747	broad.mit.edu	37	chr8	141774407	141774407	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttctgcaggaaaagaaacaGatatgttgaaagaggttaaa	10	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141774407G>T	ENST00000519465.1	-	1	215	c.44C>A	c.(43-45)tCt>tAt	p.S15Y	PTK2_ENST00000520151.1_Missense_Mutation_p.S15Y|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000517887.1_Intron			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	0					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AAAAGAAACAGATATGTTGAA	0.343													False	0	False	8:141774407	0	T	141774407	G	T	141774407	3	4	88	1	0	0	0	0	1	0	0	0	12839	957	33	3		3	PTK2	8	141774407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249929	141774407	4589615	9379	17091											
PTK2	5747	broad.mit.edu	37	chr8	141799596	141799596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagagacggcgtgtgtcCgcatgccttgcttttcgctg	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141799596C>T	ENST00000522684.1	-	14	1383	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	PTK2_ENST00000519419.1_Missense_Mutation_p.R429Q|PTK2_ENST00000538769.1_Missense_Mutation_p.R46Q|PTK2_ENST00000535192.1_Missense_Mutation_p.R385Q|PTK2_ENST00000521059.1_Missense_Mutation_p.R385Q|PTK2_ENST00000340930.3_Missense_Mutation_p.R385Q|PTK2_ENST00000395218.2_Missense_Mutation_p.R385Q|PTK2_ENST00000517887.1_Missense_Mutation_p.R429Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	385					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GGCGTGTGTCCGCATGCCTTG	0.512													False	0	False	8:141799596	0	T	141799596	C	T	141799596	3	4	88	1	0	0	0	0	1	0	0	0	12839	652	23	1	2080	1	PTK2	8	141799596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25189	141799596	4564426	9380	17092											
PTK2	5747	broad.mit.edu	37	chr8	141799614	141799614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcatgccttgcttttcgCtgttggccaacctgtgacag	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141799614C>T	ENST00000522684.1	-	14	1365	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	PTK2_ENST00000519419.1_Missense_Mutation_p.S423N|PTK2_ENST00000538769.1_Missense_Mutation_p.S40N|PTK2_ENST00000535192.1_Missense_Mutation_p.S379N|PTK2_ENST00000521059.1_Missense_Mutation_p.S379N|PTK2_ENST00000340930.3_Missense_Mutation_p.S379N|PTK2_ENST00000395218.2_Missense_Mutation_p.S379N|PTK2_ENST00000517887.1_Missense_Mutation_p.S423N	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	379					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTGCTTTTCGCTGTTGGCCAA	0.552													False	0	False	8:141799614	0	T	141799614	C	T	141799614	3	4	88	1	0	0	0	0	1	0	0	0	12839	797	28	2	2098	2	PTK2	8	141799614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	141799614	4564408	9381	17093											
PTK2	5747	broad.mit.edu	37	chr8	141856698	141856698	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtatagttatcatcttacCgtatttctagacaacccaac	4	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141856698C>T	ENST00000522684.1	-	6	759	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	PTK2_ENST00000519419.1_Splice_Site_p.R221Q|PTK2_ENST00000535192.1_Splice_Site_p.R177Q|PTK2_ENST00000521059.1_Splice_Site_p.R177Q|PTK2_ENST00000340930.3_Splice_Site_p.R177Q|PTK2_ENST00000395218.2_Splice_Site_p.R177Q|PTK2_ENST00000517887.1_Splice_Site_p.R221Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	177	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCATCTTACCGTATTTCTAG	0.323													False	0	False	8:141856698	0	T	141856698	C	T	141856698	5	4	88	1	0	0	0	0	0	0	1	0	12839	666	23	1	2736	1	PTK2	8	141856698	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57084	141856698	4507324	9382	17094											
DENND3	22898	broad.mit.edu	37	chr8	142146825	142146825	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggccccccagagcgccagAgcctgaggatgtcgccgtcc	15	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142146825A>C	ENST00000519811.1	+	2	390	c.320A>C	c.(319-321)gAg>gCg	p.E107A	DENND3_ENST00000518347.1_Missense_Mutation_p.E107A|DENND3_ENST00000262585.2_Missense_Mutation_p.E27A|DENND3_ENST00000424248.1_Missense_Mutation_p.E27A			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	27	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGCGCCAGAGCCTGAGGAT	0.667													False	0	False	8:142146825	0	C	142146825	A	C	142146825	3	2	88	1	0	0	0	0	1	0	0	0	4462	304	11	4	82	4	DENND3	8	142146825	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	290127	142146825	4217197	9383	17095											
DENND3	22898	broad.mit.edu	37	chr8	142146842	142146842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcctgaggatgtcgccGtcccgggcggcgtggacctc	16	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142146842G>A	ENST00000519811.1	+	2	407	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	DENND3_ENST00000518347.1_Missense_Mutation_p.V113I|DENND3_ENST00000262585.2_Missense_Mutation_p.V33I|DENND3_ENST00000424248.1_Missense_Mutation_p.V33I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	33	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATGTCGCCGTCCCGGGCGG	0.687													False	0	False	8:142146842	0	A	142146842	G	A	142146842	3	1	88	1	0	0	0	0	1	0	0	0	4462	1145	40	1	99	1	DENND3	8	142146842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	142146842	4217180	9384	17096											
DENND3	22898	broad.mit.edu	37	chr8	142176355	142176355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcctcccggaagtcctcGcacctgcatgtcacccacag	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142176355G>A	ENST00000519811.1	+	12	1690	c.1620G>A	c.(1618-1620)tcG>tcA	p.S540S	DENND3_ENST00000262585.2_Silent_p.S460S|DENND3_ENST00000424248.1_Silent_p.S408S			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	460										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGAAGTCCTCGCACCTGCATG	0.552													False	0	False	8:142176355	0	A	142176355	G	A	142176355	2	1	88	1	0	0	0	0	0	0	0	1	4462	1074	38	1		1	DENND3	8	142176355	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29513	142176355	4187667	9385	17097											
DENND3	22898	broad.mit.edu	37	chr8	142178477	142178477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatcctggacaagccgcacGaggcctcgaagctggacgac	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142178477G>A	ENST00000519811.1	+	13	2198	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	DENND3_ENST00000262585.2_Missense_Mutation_p.E630K|DENND3_ENST00000424248.1_Missense_Mutation_p.E578K			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	630										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAGCCGCACGAGGCCTCGAA	0.612													False	0	False	8:142178477	0	A	142178477	G	A	142178477	3	1	88	1	0	0	0	0	1	0	0	0	4462	1059	37	1	1934	1	DENND3	8	142178477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2122	142178477	4185545	9386	17098											
SLC45A4	57210	broad.mit.edu	37	chr8	142227289	142227289	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtcgagttcgagggggcCtgttccggaaatgagacggg	19	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142227289C>T	ENST00000519067.1	-	5	1780		c.e5-1		SLC45A4_ENST00000517878.1_Splice_Site|SLC45A4_ENST00000433583.2_Splice_Site|SLC45A4_ENST00000024061.3_Splice_Site			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCGAGGGGGCCTGTTCCGGAA	0.617													False	0	False	8:142227289	0	T	142227289	C	T	142227289	5	4	88	1	0	0	0	0	0	0	1	0	14723	695	24	2	936	2	SLC45A4	8	142227289	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48812	142227289	4136733	9387	17099											
SLC45A4	57210	broad.mit.edu	37	chr8	142228354	142228354	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgccgctgccgcttcTgcatgtcgtacaggtcgctc	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228354T>G	ENST00000519067.1	-	4	1535	c.1232A>C	c.(1231-1233)cAg>cCg	p.Q411P	SLC45A4_ENST00000517878.1_Missense_Mutation_p.Q462P|SLC45A4_ENST00000433583.2_Missense_Mutation_p.Q404P|SLC45A4_ENST00000024061.3_Missense_Mutation_p.Q411P			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	462					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTGCCGCTTCTGCATGTCGTA	0.687													False	0	False	8:142228354	0	G	142228354	T	G	142228354	3	3	88	1	0	0	0	0	1	0	0	0	14723	1580	55	4	1184	4	SLC45A4	8	142228354	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1065	142228354	4135668	9388	17100											
SLC45A4	57210	broad.mit.edu	37	chr8	142228381	142228381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtacaggtcgctcatgctgCgcgacggcttgatcagcacc	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228381C>T	ENST00000519067.1	-	4	1508	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	SLC45A4_ENST00000517878.1_Missense_Mutation_p.R453H|SLC45A4_ENST00000433583.2_Missense_Mutation_p.R395H|SLC45A4_ENST00000024061.3_Missense_Mutation_p.R402H			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	453					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCTCATGCTGCGCGACGGCTT	0.677													False	0	False	8:142228381	0	T	142228381	C	T	142228381	3	4	88	1	0	0	0	0	1	0	0	0	14723	768	27	1	1211	1	SLC45A4	8	142228381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	142228381	4135641	9389	17101											
SLC45A4	57210	broad.mit.edu	37	chr8	142228404	142228404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggcttgatcagcaccacGgcgttggcgcgccggtagcg	16	13	1	1	rs142808409		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228404G>A	ENST00000519067.1	-	4	1485	c.1182C>T	c.(1180-1182)gcC>gcT	p.A394A	SLC45A4_ENST00000517878.1_Silent_p.A445A|SLC45A4_ENST00000433583.2_Silent_p.A387A|SLC45A4_ENST00000024061.3_Silent_p.A394A			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	445					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCAGCACCACGGCGTTGGCGC	0.692													False	0	False	8:142228404	0	A	142228404	G	A	142228404	2	1	88	1	0	0	0	0	0	0	0	1	14723	1103	39	1		1	SLC45A4	8	142228404	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	142228404	4135618	9390	17102											
SLC45A4	57210	broad.mit.edu	37	chr8	142228727	142228727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggtggcggggtaggaggCgtcgtggaagatggagggct	25	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228727C>T	ENST00000519067.1	-	4	1162	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	SLC45A4_ENST00000517878.1_Missense_Mutation_p.A338T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A280T|SLC45A4_ENST00000024061.3_Missense_Mutation_p.A287T			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	338					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTAGGAGGCGTCGTGGAAG	0.672													False	0	False	8:142228727	0	T	142228727	C	T	142228727	3	4	88	1	0	0	0	0	1	0	0	0	14723	768	27	1	1557	1	SLC45A4	8	142228727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	323	142228727	4135295	9391	17103											
BAI1	575	broad.mit.edu	37	chr8	143603441	143603441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgggccacctccggaaccGcctcatccgcaagcgcttcc	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143603441G>A	ENST00000517894.1	+	21	4034	c.3140G>A	c.(3139-3141)cGc>cAc	p.R1047H	BAI1_ENST00000323289.5_Missense_Mutation_p.R1047H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1047					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCCGGAACCGCCTCATCCGC	0.657													False	0	False	8:143603441	0	A	143603441	G	A	143603441	3	1	88	1	0	0	0	0	1	0	0	0	1302	1087	38	1	3218	1	BAI1	8	143603441	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1374714	143603441	2760581	9392	17104											
BAI1	575	broad.mit.edu	37	chr8	143607953	143607953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagctcgtgtccaaagaCggcatcacggacaagaagct	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143607953C>T	ENST00000517894.1	+	24	4257	c.3363C>T	c.(3361-3363)gaC>gaT	p.D1121D	BAI1_ENST00000323289.5_Silent_p.D1121D			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1121					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGTCCAAAGACGGCATCACGG	0.657													False	0	False	8:143607953	0	T	143607953	C	T	143607953	2	4	88	1	0	0	0	0	0	0	0	1	1302	535	19	1		1	BAI1	8	143607953	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4512	143607953	2756069	9393	17105											
ARC	23237	broad.mit.edu	37	chr8	143694703	143694703	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccgcgtccacgtagagcgtCtggtacaggtcccgcttgcg	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143694703C>A	ENST00000356613.2	-	1	2130	c.930G>T	c.(928-930)caG>caT	p.Q310H		NM_015193.4	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	310					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CGTAGAGCGTCTGGTACAGGT	0.667													False	0	False	8:143694703	0	A	143694703	C	A	143694703	3	1	88	1	0	0	0	0	1	0	0	0	843	912	32	3	264	3	ARC	8	143694703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86750	143694703	2669319	9394	17106											
JRK	8629	broad.mit.edu	37	chr8	143747217	143747217	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaggacgcggtccaggtgCtccagcttgggcgtgtgcag	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143747217C>A	ENST00000507178.2	-	0	593									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ggtccaggtgctccagcttgg	0.662													False	0	False	8:143747217	0	A	143747217	C	A	143747217	1	1	88	0	1	0	0	0	0	0	0	0	8014	796	28	3		3	JRK	8	143747217	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52514	143747217	2616805	9395	17107											
LY6K	54742	broad.mit.edu	37	chr8	143781978	143781978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttgctgctggtcgtggcCctaccgcgggtgtggacaga	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143781978C>T	ENST00000522591.1	+	1	89	c.33C>T	c.(31-33)gcC>gcT	p.A11A	LY6K_ENST00000518841.1_Silent_p.A11A|LY6K_ENST00000561179.1_Silent_p.A69A|LY6K_ENST00000519387.1_Silent_p.A11A|LY6K_ENST00000292430.6_Silent_p.A11A			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	11						anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGGTCGTGGCCCTACCGCGGG	0.701													False	0	True	8:143781978	0	T	143781978	C	T	143781978	2	4	88	1	0	0	0	0	0	0	0	1	9161	610	22	2		2	LY6K	8	143781978	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34761	143781978	2582044	9396	17108											
LYNX1	66004	broad.mit.edu	37	chr8	143857418	143857418	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggagtggggaggtcaacaGcagctagccctggatccaac	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143857418G>T	ENST00000398906.1	-	0	342				LYNX1_ENST00000345173.6_De_novo_Start_OutOfFrame|LYNX1_ENST00000335822.5_De_novo_Start_OutOfFrame|LYNX1_ENST00000395192.2_De_novo_Start_OutOfFrame|LYNX1_ENST00000522906.1_Intron|LYNX1_ENST00000523332.1_De_novo_Start_OutOfFrame	NM_177477.2	NP_803430.1	Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1							extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAGGTCAACAGCAGCTAGCCC	0.657													False	0	False	8:143857418	0	T	143857418	G	T	143857418	1	4	88	1	0	0	0	0	0	0	0	0	9171	986	34	3		3	LYNX1	8	143857418	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75440	143857418	2506604	9397	17109											
CYP11B1	0	broad.mit.edu	37	chr8	143956537	143956537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgggaacaaggcggggttgcGacccagagagtagaggaaca	17	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143956537G>A	ENST00000292427.4	-	8	1266	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R483C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	412					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.R412C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCGGGGTTGCGACCCAGAGAG	0.627									Familial Hyperaldosteronism type I				False	0	False	8:143956537	0	A	143956537	G	A	143956537	3	1	88	1	0	0	0	0	1	0	0	0	4170	1058	37	1	285	1	CYP11B1	8	143956537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99119	143956537	2407485	9398	17110											
LY6E	4061	broad.mit.edu	37	chr8	144102804	144102804	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagccgaccatctgctcCgaccaggacaactactgcgt	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144102804C>T	ENST00000517503.1	+	3	444	c.409C>T	c.(409-411)Cga>Tga	p.R137*	LY6E_ENST00000520466.1_Silent_p.S42S|LY6E_ENST00000522971.1_Silent_p.S42S|LY6E_ENST00000521003.1_Silent_p.S42S|LY6E_ENST00000519611.1_Silent_p.S42S|LY6E_ENST00000522024.1_Silent_p.S42S|LY6E_ENST00000292494.6_Silent_p.S42S|LY6E_ENST00000523847.1_Silent_p.S42S|LY6E_ENST00000520531.1_Silent_p.S42S|LY6E_ENST00000429120.2_Silent_p.S42S|LY6E_ENST00000522528.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000521182.1_Nonsense_Mutation_p.R31*|LY6E_ENST00000521699.1_Silent_p.S42S|LY6E_ENST00000519546.1_Silent_p.S42S			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	0					cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCATCTGCTCCGACCAGGACA	0.597													False	0	False	8:144102804	0	T	144102804	C	T	144102804	4	4	88	1	0	0	0	0	0	1	0	0	9154	639	23	1	132	1	LY6E	8	144102804	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146267	144102804	2261218	9399	17111											
C8orf31	286122	broad.mit.edu	37	chr8	144124636	144124636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaccaccgcattgcagaGgtctcccttgcagcaagaga	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144124636G>T	ENST00000395172.1	+	3	495	c.143G>T	c.(142-144)aGg>aTg	p.R48M	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	48										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCATTGCAGAGGTCTCCCTTG	0.622													False	0	False	8:144124636	0	T	144124636	G	T	144124636	3	4	88	1	0	0	0	0	1	0	0	0	2440	1000	35	3	149	3	C8orf31	8	144124636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21832	144124636	2239386	9400	17112											
LY6H	4062	broad.mit.edu	37	chr8	144240263	144240263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactggcacacaccgtgtcGgacggctggcactgctttgg	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144240263G>A	ENST00000414417.2	-	4	440	c.207C>T	c.(205-207)tcC>tcT	p.S69S	LY6H_ENST00000430474.2_Silent_p.S48S|LY6H_ENST00000342752.4_Silent_p.S69S	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	48	UPAR/Ly6.				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACACCGTGTCGGACGGCTGGC	0.612													False	0	False	8:144240263	0	A	144240263	G	A	144240263	2	1	88	1	0	0	0	0	0	0	0	1	9160	1103	39	1		1	LY6H	8	144240263	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115627	144240263	2123759	9401	17113											
ZFP41	286128	broad.mit.edu	37	chr8	144332465	144332465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcggggagtgcgggaaagCctttaactgcggctccaatc	14	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144332465C>T	ENST00000330701.4	+	2	821	c.452C>T	c.(451-453)gCc>gTc	p.A151V	ZFP41_ENST00000520584.1_Missense_Mutation_p.A151V|ZFP41_ENST00000522452.1_Missense_Mutation_p.A151V	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	151					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TGCGGGAAAGCCTTTAACTGC	0.587													False	0	False	8:144332465	0	T	144332465	C	T	144332465	3	4	88	1	0	0	0	0	1	0	0	0	17732	739	26	2	454	2	ZFP41	8	144332465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92202	144332465	2031557	9402	17114											
ZNF696	79943	broad.mit.edu	37	chr8	144378799	144378799	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgccgcatccacaccggggaGaagccccaccagtgcggcca	12	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144378799G>T	ENST00000330143.3	+	3	1363	c.954G>T	c.(952-954)gaG>gaT	p.E318D		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			ACACCGGGGAGAAGCCCCACC	0.736													False	0	False	8:144378799	0	T	144378799	G	T	144378799	3	4	88	1	0	0	0	0	1	0	0	0	18182	933	33	3	960	3	ZNF696	8	144378799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46334	144378799	1985223	9403	17115											
ZC3H3	23144	broad.mit.edu	37	chr8	144589969	144589969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagagacagggggaagggCggggcgctgagaggcgaggc	24	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144589969C>T	ENST00000262577.5	-	4	1693	c.1662G>A	c.(1660-1662)ccG>ccA	p.P554P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	554					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGGGGAAGGGCGGGGCGCTGA	0.672													False	0	True	8:144589969	0	T	144589969	C	T	144589969	2	4	88	1	0	0	0	0	0	0	0	1	17652	755	27	1		1	ZC3H3	8	144589969	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211170	144589969	1774053	9404	17116											
GSDMD	79792	broad.mit.edu	37	chr8	144643581	144643581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagcagaggaccttccagCcacccgcgacaggtgagagc	13	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144643581C>T	ENST00000526406.1	+	9	1607	c.724C>T	c.(724-726)Cca>Tca	p.P242S	GSDMD_ENST00000262580.4_Missense_Mutation_p.P242S|GSDMD_ENST00000533063.1_Missense_Mutation_p.P290S	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	242										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GACCTTCCAGCCACCCGCGAC	0.617													False	0	False	8:144643581	0	T	144643581	C	T	144643581	3	4	88	1	0	0	0	0	1	0	0	0	6866	739	26	2	742	2	GSDMD	8	144643581	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53612	144643581	1720441	9405	17117											
EEF1D	1936	broad.mit.edu	37	chr8	144663295	144663295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcagccgggcctccagctTggagatggcctgctgcagct	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144663295T>C	ENST00000532741.1	-	5	1795	c.1567A>G	c.(1567-1569)Aag>Gag	p.K523E	EEF1D_ENST00000531621.1_Missense_Mutation_p.K64E|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000317198.6_Missense_Mutation_p.K107E|EEF1D_ENST00000524624.1_Missense_Mutation_p.K83E|EEF1D_ENST00000529272.1_Missense_Mutation_p.K107E|EEF1D_ENST00000442189.2_Missense_Mutation_p.K473E|EEF1D_ENST00000526838.1_Missense_Mutation_p.K88E|EEF1D_ENST00000419152.2_Missense_Mutation_p.K107E|EEF1D_ENST00000395119.3_Missense_Mutation_p.K107E|EEF1D_ENST00000423316.2_Missense_Mutation_p.K473E|EEF1D_ENST00000528610.1_Missense_Mutation_p.K83E			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	107					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCTCCAGCTTGGAGATGGCC	0.692													False	0	False	8:144663295	0	C	144663295	T	C	144663295	3	2	88	1	0	0	0	0	1	0	0	0	4956	1821	63	4	542	4	EEF1D	8	144663295	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19714	144663295	1700727	9406	17118											
EEF1D	1936	broad.mit.edu	37	chr8	144671274	144671274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcagcgtggtggcggcaCtcggcgctgtcgtaggcagg	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144671274C>T	ENST00000532741.1	-	1	1356	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000442189.2_Silent_p.E326E|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000423316.2_Silent_p.E326E|EEF1D_ENST00000528610.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGTGGCGGCACTCGGCGCTGT	0.692													False	0	False	8:144671274	0	T	144671274	C	T	144671274	2	4	88	1	0	0	0	0	0	0	0	1	4956	564	20	2		2	EEF1D	8	144671274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7979	144671274	1692748	9407	17119											
EEF1D	1936	broad.mit.edu	37	chr8	144671318	144671318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagccagggggcctctgCatccttctgcaggaagtaac	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144671318C>T	ENST00000532741.1	-	1	1312	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.A312T|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.A312T|EEF1D_ENST00000528610.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGCCTCTGCATCCTTCTGC	0.697													False	0	False	8:144671318	0	T	144671318	C	T	144671318	3	4	88	1	0	0	0	0	1	0	0	0	4956	710	25	2	1041	2	EEF1D	8	144671318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	144671318	1692704	9408	17120											
EEF1D	1936	broad.mit.edu	37	chr8	144672378	144672378	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctccctgggcaggggctgagGatgctccccagtggggcttc	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144672378G>A	ENST00000532741.1	-	1	252	c.24C>T	c.(22-24)atC>atT	p.I8I	EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000442189.2_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000423316.2_Intron|EEF1D_ENST00000528610.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	115					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGGGGCTGAGGATGCTCCCCA	0.657													False	0	False	8:144672378	0	A	144672378	G	A	144672378	2	1	88	1	0	0	0	0	0	0	0	1	4956	1189	41	2		2	EEF1D	8	144672378	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1060	144672378	1691644	9409	17121											
TSTA3	7264	broad.mit.edu	37	chr8	144695733	144695733	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatggcctccaccaccgcCtcggctgcctccttgatgga	9	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144695733C>T	ENST00000425753.2	-	9	874	c.771G>A	c.(769-771)gaG>gaA	p.E257E	TSTA3_ENST00000529064.1_Silent_p.E257E	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	257					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CCACCACCGCCTCGGCTGCCT	0.667													False	0	False	8:144695733	0	T	144695733	C	T	144695733	2	4	88	1	0	0	0	0	0	0	0	1	16757	680	24	2		2	TSTA3	8	144695733	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23355	144695733	1668289	9410	17122											
ZNF623	9831	broad.mit.edu	37	chr8	144732313	144732313	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccattggaagatccagacaGgagagacagctcaagtgtgc	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144732313G>T	ENST00000501748.2	+	1	360	c.271G>T	c.(271-273)Gga>Tga	p.G91*	ZNF623_ENST00000526926.1_Nonsense_Mutation_p.G51*|ZNF623_ENST00000458270.2_Nonsense_Mutation_p.G51*	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GATCCAGACAGGAGAGACAGC	0.532													False	0	True	8:144732313	0	T	144732313	G	T	144732313	4	4	88	1	0	0	0	0	0	1	0	0	18130	1001	35	3	273	3	ZNF623	8	144732313	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36580	144732313	1631709	9411	17123											
ZNF707	286075	broad.mit.edu	37	chr8	144776463	144776463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgttctactgcgcggactgCggcaaagccttccggaccaa	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144776463C>T	ENST00000532205.1	+	8	1778	c.879C>T	c.(877-879)tgC>tgT	p.C293C	ZNF707_ENST00000454097.1_Silent_p.C293C|ZNF707_ENST00000418203.2_Silent_p.C293C|ZNF707_ENST00000358656.4_Silent_p.C293C|ZNF707_ENST00000532158.1_Silent_p.C293C			Q96C28	ZN707_HUMAN	zinc finger protein 707	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGCGGACTGCGGCAAAGCCT	0.627													False	0	False	8:144776463	0	T	144776463	C	T	144776463	2	4	88	1	0	0	0	0	0	0	0	1	18194	776	27	1		1	ZNF707	8	144776463	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44150	144776463	1587559	9412	17124											
MAPK15	225689	broad.mit.edu	37	chr8	144800977	144800977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcagtcatccggaagggcGgcctgctgcaggacgtccac	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144800977G>A	ENST00000338033.4	+	5	438	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	MAPK15_ENST00000395107.4_Missense_Mutation_p.G124S|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.G107S	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	107	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCGGAAGGGCGGCCTGCTGCA	0.682													False	0	False	8:144800977	0	A	144800977	G	A	144800977	3	1	88	1	0	0	0	0	1	0	0	0	9344	1116	39	1	337	1	MAPK15	8	144800977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24514	144800977	1563045	9413	17125											
MAPK15	225689	broad.mit.edu	37	chr8	144801568	144801568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatcctgggggagatgctgCgggggagacccctgttcccc	16	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144801568C>T	ENST00000338033.4	+	7	756	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	MAPK15_ENST00000395107.4_Missense_Mutation_p.R230W|MAPK15_ENST00000395108.2_Missense_Mutation_p.R213W	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	213	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGAGATGCTGCGGGGGAGACC	0.647													False	0	True	8:144801568	0	T	144801568	C	T	144801568	3	4	88	1	0	0	0	0	1	0	0	0	9344	759	27	1	663	1	MAPK15	8	144801568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	591	144801568	1562454	9414	17126											
FAM83H	286077	broad.mit.edu	37	chr8	144808550	144808550	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtacaaggcgttggcCgtggctgaggacaggcgcgc	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144808550C>T	ENST00000388913.3	-	5	3206	c.3081G>A	c.(3079-3081)acG>acA	p.T1027T		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1027					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGCGTTGGCCGTGGCTGAGG	0.682													False	0	False	8:144808550	0	T	144808550	C	T	144808550	2	4	88	1	0	0	0	0	0	0	0	1	5680	639	23	1		1	FAM83H	8	144808550	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6982	144808550	1555472	9415	17127											
FAM83H	286077	broad.mit.edu	37	chr8	144810228	144810228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcgaacaggccttgcgggCgcgccggcgtgagctgcggg	18	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144810228C>T	ENST00000388913.3	-	5	1528	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	468					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCTTGCGGGCGCGCCGGCGT	0.706													False	0	True	8:144810228	0	T	144810228	C	T	144810228	3	4	88	1	0	0	0	0	1	0	0	0	5680	768	27	1	2140	1	FAM83H	8	144810228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1678	144810228	1553794	9416	17128											
FAM83H	286077	broad.mit.edu	37	chr8	144812445	144812445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaatcaagctcaggcacgGcctggtctgagttcactggc	11	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144812445G>A	ENST00000388913.3	-	2	433	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	103					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCAGGCACGGCCTGGTCTGA	0.627													False	0	False	8:144812445	0	A	144812445	G	A	144812445	3	1	88	1	0	0	0	0	1	0	0	0	5680	1203	42	2	3247	2	FAM83H	8	144812445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2217	144812445	1551577	9417	17129											
FAM83H	286077	broad.mit.edu	37	chr8	144812742	144812742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgaggagctctgagagCgacgggccatgttggggcca	17	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144812742C>T	ENST00000388913.3	-	2	136	c.11G>A	c.(10-12)cGc>cAc	p.R4H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	4					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTCTGAGAGCGACGGGCCAT	0.662													False	0	False	8:144812742	0	T	144812742	C	T	144812742	3	4	88	1	0	0	0	0	1	0	0	0	5680	768	27	1	3544	1	FAM83H	8	144812742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	297	144812742	1551280	9418	17130											
SCRIB	23513	broad.mit.edu	37	chr8	144885613	144885613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcacggtgagggtgtcGcccacactgcggagcagctg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144885613G>A	ENST00000356994.2	-	24	3549	c.3543C>T	c.(3541-3543)ggC>ggT	p.G1181G	SCRIB_ENST00000320476.3_Silent_p.G1181G|SCRIB_ENST00000377533.3_Silent_p.G1100G	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1181	Interaction with ARHGEF7.|PDZ 4.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGAGGGTGTCGCCCACACTGC	0.701													False	0	True	8:144885613	0	A	144885613	G	A	144885613	2	1	88	1	0	0	0	0	0	0	0	1	14018	1074	38	1		1	SCRIB	8	144885613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72871	144885613	1478409	9419	17131											
SCRIB	23513	broad.mit.edu	37	chr8	144890804	144890804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagggcgcagaaaccacgGccccctccttgtcctcctcc	9	19	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144890804G>A	ENST00000356994.2	-	15	2096	c.2090C>T	c.(2089-2091)gCc>gTc	p.A697V	SCRIB_ENST00000320476.3_Missense_Mutation_p.A697V|SCRIB_ENST00000377533.3_Missense_Mutation_p.A616V	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	697	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGAAACCACGGCCCCCTCCTT	0.637													False	0	True	8:144890804	0	A	144890804	G	A	144890804	3	1	88	1	0	0	0	0	1	0	0	0	14018	1203	42	2	2969	2	SCRIB	8	144890804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5191	144890804	1473218	9420	17132											
SCRIB	23513	broad.mit.edu	37	chr8	144893409	144893409	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccctcaaggagaggacgCtgagtgccacacagcccccg	12	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144893409C>A	ENST00000356994.2	-	10	1019	c.1013G>T	c.(1012-1014)aGc>aTc	p.S338I	SCRIB_ENST00000320476.3_Missense_Mutation_p.S338I|SCRIB_ENST00000377533.3_Missense_Mutation_p.S257I	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	338	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGAGAGGACGCTGAGTGCCAC	0.672													False	0	False	8:144893409	0	A	144893409	C	A	144893409	3	1	88	1	0	0	0	0	1	0	0	0	14018	797	28	3	4066	3	SCRIB	8	144893409	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2605	144893409	1470613	9421	17133											
PUF60	22827	broad.mit.edu	37	chr8	144899948	144899948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggacgactgggccttctcGtactctgtgggcaggagcag	16	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144899948G>A	ENST00000526683.1	-	9	1377	c.822C>T	c.(820-822)taC>taT	p.Y274Y	PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Silent_p.Y245Y|PUF60_ENST00000453551.2_Silent_p.Y231Y|PUF60_ENST00000527197.1_Silent_p.Y228Y|PUF60_ENST00000313352.7_Silent_p.Y214Y|PUF60_ENST00000349157.6_Silent_p.Y257Y	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	274	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGCCTTCTCGTACTCTGTGG	0.642													False	0	False	8:144899948	0	A	144899948	G	A	144899948	2	1	88	1	0	0	0	0	0	0	0	1	12903	1140	40	1		1	PUF60	8	144899948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6539	144899948	1464074	9422	17134											
NRBP2	340371	broad.mit.edu	37	chr8	144919856	144919856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcacctcgaagagcacGcggtggaagaggaggctgtg	18	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144919856G>A	ENST00000442628.2	-	11	1051	c.912C>T	c.(910-912)cgC>cgT	p.R304R	NRBP2_ENST00000327830.5_Silent_p.R61R	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	304	Protein kinase.				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGAAGAGCACGCGGTGGAAGA	0.692													False	0	False	8:144919856	0	A	144919856	G	A	144919856	2	1	88	1	0	0	0	0	0	0	0	1	10711	1074	38	1		1	NRBP2	8	144919856	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19908	144919856	1444166	9423	17135											
EPPK1	83481	broad.mit.edu	37	chr8	144940249	144940249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtacgtgaggttctcgtgCgtgttggggtcgaagaagcc	17	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940249C>T	ENST00000525985.1	-	2	7244	c.7173G>A	c.(7171-7173)acG>acA	p.T2391T				P58107	EPIPL_HUMAN	epiplakin 1	2391						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTTCTCGTGCGTGTTGGGGT	0.627													False	0	True	8:144940249	0	T	144940249	C	T	144940249	2	4	88	1	0	0	0	0	0	0	0	1	5222	755	27	1		1	EPPK1	8	144940249	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20393	144940249	1423773	9424	17136											
EPPK1	83481	broad.mit.edu	37	chr8	144940360	144940360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtccacgggcacgcggtgGctgtgcacggggtcgatgac	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940360G>A	ENST00000525985.1	-	2	7133	c.7062C>T	c.(7060-7062)agC>agT	p.S2354S				P58107	EPIPL_HUMAN	epiplakin 1	2354						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCACGCGGTGGCTGTGCACGG	0.687													False	0	False	8:144940360	0	A	144940360	G	A	144940360	2	1	88	1	0	0	0	0	0	0	0	1	5222	1194	42	2		2	EPPK1	8	144940360	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	144940360	1423662	9425	17137											
EPPK1	83481	broad.mit.edu	37	chr8	144940412	144940412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatctgggcctccagcaggCggatgccgtgctcccggacg	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940412C>T	ENST00000525985.1	-	2	7081	c.7010G>A	c.(7009-7011)cGc>cAc	p.R2337H				P58107	EPIPL_HUMAN	epiplakin 1	2337						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCAGCAGGCGGATGCCGTG	0.701													False	0	False	8:144940412	0	T	144940412	C	T	144940412	3	4	88	1	0	0	0	0	1	0	0	0	5222	768	27	1	256	1	EPPK1	8	144940412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52	144940412	1423610	9426	17138											
EPPK1	83481	broad.mit.edu	37	chr8	144940647	144940647	+	Missense_Mutation	SNP	C	C	A													cgcctccagcagcaccagggCcgtgccgggccgcagcacgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940647C>A	ENST00000525985.1	-	2	6846	c.6775G>T	c.(6775-6777)Gcc>Tcc	p.A2259S				P58107	EPIPL_HUMAN	epiplakin 1	2259						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCACCAGGGCCGTGCCGGGC	0.726													False	0	True	8:144940647	0	A	144940647	C	A	144940647	3	1	88	1	0	0	0	0	1	0	0	0	5222	739	26	3	491	3	EPPK1	8	144940647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	235	144940647	1423375	9427	17139	206	2									
EPPK1	83481	broad.mit.edu	37	chr8	144940652	144940652	+	Missense_Mutation	SNP	C	C	T													ccagcagcaccagggccgtgCcgggccgcagcacgcccttc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940652C>T	ENST00000525985.1	-	2	6841	c.6770G>A	c.(6769-6771)gGc>gAc	p.G2257D				P58107	EPIPL_HUMAN	epiplakin 1	2257						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGGCCGTGCCGGGCCGCAG	0.726													False	0	False	8:144940652	0	T	144940652	C	T	144940652	3	4	88	1	0	0	0	0	1	0	0	0	5222	739	26	2	496	2	EPPK1	8	144940652	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	144940652	1423370	9428	17140	206	2									
EPPK1	83481	broad.mit.edu	37	chr8	144940665	144940665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgtgccgggccgcagcaCgcccttccacatggcctggt	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144940665C>T	ENST00000525985.1	-	2	6828	c.6757G>A	c.(6757-6759)Gtg>Atg	p.V2253M				P58107	EPIPL_HUMAN	epiplakin 1	2253						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCGCAGCACGCCCTTCCAC	0.716													False	0	False	8:144940665	0	T	144940665	C	T	144940665	3	4	88	1	0	0	0	0	1	0	0	0	5222	536	19	1	509	1	EPPK1	8	144940665	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	144940665	1423357	9429	17141											
EPPK1	83481	broad.mit.edu	37	chr8	144942172	144942172	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaggtacaggcccgtctcGgggtcctccacacagcgctc	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144942172G>A	ENST00000525985.1	-	2	5321	c.5250C>T	c.(5248-5250)ccC>ccT	p.P1750P				P58107	EPIPL_HUMAN	epiplakin 1	1750						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.P1750P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCCGTCTCGGGGTCCTCCA	0.547													False	0	True	8:144942172	0	A	144942172	G	A	144942172	2	1	88	1	0	0	0	0	0	0	0	1	5222	1103	39	1		1	EPPK1	8	144942172	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1507	144942172	1421850	9430	17142											
EPPK1	83481	broad.mit.edu	37	chr8	144943253	144943253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgcagtcagcacctggCtcgtctgtgtgtccagaagg	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144943253C>T	ENST00000525985.1	-	2	4240	c.4169G>A	c.(4168-4170)aGc>aAc	p.S1390N				P58107	EPIPL_HUMAN	epiplakin 1	1390						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCACCTGGCTCGTCTGTGT	0.647													False	0	False	8:144943253	0	T	144943253	C	T	144943253	3	4	88	1	0	0	0	0	1	0	0	0	5222	797	28	2	3097	2	EPPK1	8	144943253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1081	144943253	1420769	9431	17143											
EPPK1	83481	broad.mit.edu	37	chr8	144945010	144945010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtggcactgtccaccagCggggactgcgtgctgctgag	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144945010C>T	ENST00000525985.1	-	2	2483	c.2412G>A	c.(2410-2412)ccG>ccA	p.P804P				P58107	EPIPL_HUMAN	epiplakin 1	804						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTCCACCAGCGGGGACTGCG	0.637													False	0	True	8:144945010	0	T	144945010	C	T	144945010	2	4	88	1	0	0	0	0	0	0	0	1	5222	755	27	1		1	EPPK1	8	144945010	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1757	144945010	1419012	9432	17144											
EPPK1	83481	broad.mit.edu	37	chr8	144947078	144947078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccgtagtggcacgctcaGcggccagcagcttctccttc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144947078G>T	ENST00000525985.1	-	2	415	c.344C>A	c.(343-345)gCt>gAt	p.A115D				P58107	EPIPL_HUMAN	epiplakin 1	115						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCACGCTCAGCGGCCAGCAG	0.687													False	0	False	8:144947078	0	T	144947078	G	T	144947078	3	4	88	1	0	0	0	0	1	0	0	0	5222	971	34	3	6922	3	EPPK1	8	144947078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2068	144947078	1416944	9433	17145											
PLEC	5339	broad.mit.edu	37	chr8	144991209	144991209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgggtcctggagacggcGgggctgatggggtaggagga	22	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991209G>A	ENST00000322810.4	-	32	13360	c.13191C>T	c.(13189-13191)ccC>ccT	p.P4397P	PLEC_ENST00000354958.2_Silent_p.P4238P|PLEC_ENST00000527096.1_Silent_p.P4283P|PLEC_ENST00000436759.2_Silent_p.P4287P|PLEC_ENST00000398774.2_Silent_p.P4228P|PLEC_ENST00000354589.3_Silent_p.P4260P|PLEC_ENST00000356346.3_Silent_p.P4246P|PLEC_ENST00000345136.3_Silent_p.P4260P|PLEC_ENST00000357649.2_Silent_p.P4264P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4397	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGAGACGGCGGGGCTGATGG	0.667													False	0	True	8:144991209	0	A	144991209	G	A	144991209	2	1	88	1	0	0	0	0	0	0	0	1	12121	1103	39	1		1	PLEC	8	144991209	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44131	144991209	1372813	9434	17146											
PLEC	5339	broad.mit.edu	37	chr8	144991545	144991545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacactgacatctccttgccCgtctcggggtccacgatgac	9	15	2	2	rs143548638	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991545C>T	ENST00000322810.4	-	32	13024	c.12855G>A	c.(12853-12855)acG>acA	p.T4285T	PLEC_ENST00000354958.2_Silent_p.T4126T|PLEC_ENST00000527096.1_Silent_p.T4171T|PLEC_ENST00000436759.2_Silent_p.T4175T|PLEC_ENST00000398774.2_Silent_p.T4116T|PLEC_ENST00000354589.3_Silent_p.T4148T|PLEC_ENST00000356346.3_Silent_p.T4134T|PLEC_ENST00000345136.3_Silent_p.T4148T|PLEC_ENST00000357649.2_Silent_p.T4152T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4285	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCCTTGCCCGTCTCGGGGT	0.622													False	0	True	8:144991545	0	T	144991545	C	T	144991545	2	4	88	1	0	0	0	0	0	0	0	1	12121	639	23	1		1	PLEC	8	144991545	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	336	144991545	1372477	9435	17147											
PLEC	5339	broad.mit.edu	37	chr8	144991599	144991599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacggaggacttggaggaCgtcttccgctcccgcttctt	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991599C>T	ENST00000322810.4	-	32	12970	c.12801G>A	c.(12799-12801)acG>acA	p.T4267T	PLEC_ENST00000354958.2_Silent_p.T4108T|PLEC_ENST00000527096.1_Silent_p.T4153T|PLEC_ENST00000436759.2_Silent_p.T4157T|PLEC_ENST00000398774.2_Silent_p.T4098T|PLEC_ENST00000354589.3_Silent_p.T4130T|PLEC_ENST00000356346.3_Silent_p.T4116T|PLEC_ENST00000345136.3_Silent_p.T4130T|PLEC_ENST00000357649.2_Silent_p.T4134T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4267	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACTTGGAGGACGTCTTCCGCT	0.612													False	0	False	8:144991599	0	T	144991599	C	T	144991599	2	4	88	1	0	0	0	0	0	0	0	1	12121	523	19	1		1	PLEC	8	144991599	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54	144991599	1372423	9436	17148											
PLEC	5339	broad.mit.edu	37	chr8	144991705	144991705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaggtgaggttctcctccGtgttagggtcaaagaagccc	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991705G>A	ENST00000322810.4	-	32	12864	c.12695C>T	c.(12694-12696)aCg>aTg	p.T4232M	PLEC_ENST00000354958.2_Missense_Mutation_p.T4073M|PLEC_ENST00000527096.1_Missense_Mutation_p.T4118M|PLEC_ENST00000436759.2_Missense_Mutation_p.T4122M|PLEC_ENST00000398774.2_Missense_Mutation_p.T4063M|PLEC_ENST00000354589.3_Missense_Mutation_p.T4095M|PLEC_ENST00000356346.3_Missense_Mutation_p.T4081M|PLEC_ENST00000345136.3_Missense_Mutation_p.T4095M|PLEC_ENST00000357649.2_Missense_Mutation_p.T4099M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4232	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTTCTCCTCCGTGTTAGGGTC	0.607													False	0	False	8:144991705	0	A	144991705	G	A	144991705	3	1	88	1	0	0	0	0	1	0	0	0	12121	1145	40	1	1363	1	PLEC	8	144991705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106	144991705	1372317	9437	17149											
PLEC	5339	broad.mit.edu	37	chr8	144992998	144992998	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgccctcccggagcaggTtgtaggtctcgagagagatg	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144992998T>C	ENST00000322810.4	-	32	11571	c.11402A>G	c.(11401-11403)aAc>aGc	p.N3801S	PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3801	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGGAGCAGGTTGTAGGTCTC	0.657													False	0	False	8:144992998	0	C	144992998	T	C	144992998	3	2	88	1	0	0	0	0	1	0	0	0	12121	1725	60	4	2656	4	PLEC	8	144992998	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1293	144992998	1371024	9438	17150											
PLEC	5339	broad.mit.edu	37	chr8	144994963	144994963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtccacctcggctacgTctcgcacagagcgctcacct	9	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144994963T>C	ENST00000322810.4	-	32	9606	c.9437A>G	c.(9436-9438)gAc>gGc	p.D3146G	PLEC_ENST00000354958.2_Missense_Mutation_p.D2987G|PLEC_ENST00000527096.1_Missense_Mutation_p.D3032G|PLEC_ENST00000436759.2_Missense_Mutation_p.D3036G|PLEC_ENST00000398774.2_Missense_Mutation_p.D2977G|PLEC_ENST00000354589.3_Missense_Mutation_p.D3009G|PLEC_ENST00000356346.3_Missense_Mutation_p.D2995G|PLEC_ENST00000345136.3_Missense_Mutation_p.D3009G|PLEC_ENST00000357649.2_Missense_Mutation_p.D3013G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3146	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCGGCTACGTCTCGCACAGA	0.667													False	0	False	8:144994963	0	C	144994963	T	C	144994963	3	2	88	1	0	0	0	0	1	0	0	0	12121	1667	58	4	4621	4	PLEC	8	144994963	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1965	144994963	1369059	9439	17151											
PLEC	5339	broad.mit.edu	37	chr8	144995573	144995573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcgatctgggcctccaGcaggcggatgccgtgctccc	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995573G>T	ENST00000322810.4	-	32	8996	c.8827C>A	c.(8827-8829)Ctg>Atg	p.L2943M	PLEC_ENST00000354958.2_Missense_Mutation_p.L2784M|PLEC_ENST00000527096.1_Missense_Mutation_p.L2829M|PLEC_ENST00000436759.2_Missense_Mutation_p.L2833M|PLEC_ENST00000398774.2_Missense_Mutation_p.L2774M|PLEC_ENST00000354589.3_Missense_Mutation_p.L2806M|PLEC_ENST00000356346.3_Missense_Mutation_p.L2792M|PLEC_ENST00000345136.3_Missense_Mutation_p.L2806M|PLEC_ENST00000357649.2_Missense_Mutation_p.L2810M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2943	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGGCCTCCAGCAGGCGGATG	0.667													False	0	False	8:144995573	0	T	144995573	G	T	144995573	3	4	88	1	0	0	0	0	1	0	0	0	12121	962	34	3	5231	3	PLEC	8	144995573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	610	144995573	1368449	9440	17152											
PLEC	5339	broad.mit.edu	37	chr8	144995861	144995861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcggcgtaaacactcaGcttctcattggtggccttca	11	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995861G>A	ENST00000322810.4	-	32	8708	c.8539C>T	c.(8539-8541)Ctg>Ttg	p.L2847L	PLEC_ENST00000354958.2_Silent_p.L2688L|PLEC_ENST00000527096.1_Silent_p.L2733L|PLEC_ENST00000436759.2_Silent_p.L2737L|PLEC_ENST00000398774.2_Silent_p.L2678L|PLEC_ENST00000354589.3_Silent_p.L2710L|PLEC_ENST00000356346.3_Silent_p.L2696L|PLEC_ENST00000345136.3_Silent_p.L2710L|PLEC_ENST00000357649.2_Silent_p.L2714L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2847	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TAAACACTCAGCTTCTCATTG	0.667													False	0	False	8:144995861	0	A	144995861	G	A	144995861	2	1	88	1	0	0	0	0	0	0	0	1	12121	962	34	2		2	PLEC	8	144995861	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288	144995861	1368161	9441	17153											
PLEC	5339	broad.mit.edu	37	chr8	144995928	144995928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcaggtagtggcgcacGtcttcccgccgtgcgagctc	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995928G>A	ENST00000322810.4	-	32	8641	c.8472C>T	c.(8470-8472)gaC>gaT	p.D2824D	PLEC_ENST00000354958.2_Silent_p.D2665D|PLEC_ENST00000527096.1_Silent_p.D2710D|PLEC_ENST00000436759.2_Silent_p.D2714D|PLEC_ENST00000398774.2_Silent_p.D2655D|PLEC_ENST00000354589.3_Silent_p.D2687D|PLEC_ENST00000356346.3_Silent_p.D2673D|PLEC_ENST00000345136.3_Silent_p.D2687D|PLEC_ENST00000357649.2_Silent_p.D2691D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2824	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGTGGCGCACGTCTTCCCGCC	0.667													False	0	False	8:144995928	0	A	144995928	G	A	144995928	2	1	88	1	0	0	0	0	0	0	0	1	12121	1136	40	1		1	PLEC	8	144995928	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	144995928	1368094	9442	17154											
PLEC	5339	broad.mit.edu	37	chr8	144996821	144996821	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcaccagggtcaccttctCctgggtggcgagctccgtgc	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144996821C>A	ENST00000322810.4	-	31	7856	c.7687G>T	c.(7687-7689)Gag>Tag	p.E2563*	PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2404*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2449*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E2453*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2394*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E2412*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E2426*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E2430*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2563	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCACCTTCTCCTGGGTGGCG	0.672													False	0	False	8:144996821	0	A	144996821	C	A	144996821	4	1	88	1	0	0	0	0	0	1	0	0	12121	864	30	3	6375	3	PLEC	8	144996821	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	893	144996821	1367201	9443	17155											
PLEC	5339	broad.mit.edu	37	chr8	144997340	144997340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcacgcaagatgagtgCgcggttctcagcctcgatgc	12	12	2	2	rs62641756	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997340C>T	ENST00000322810.4	-	31	7337	c.7168G>A	c.(7168-7170)Gca>Aca	p.A2390T	PLEC_ENST00000354958.2_Missense_Mutation_p.A2231T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2276T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2280T|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253T|PLEC_ENST00000356346.3_Missense_Mutation_p.A2239T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2253T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2257T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2390	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAGATGAGTGCGCGGTTCTCA	0.642													False	0	False	8:144997340	0	T	144997340	C	T	144997340	3	4	88	1	0	0	0	0	1	0	0	0	12121	768	27	1	6894	1	PLEC	8	144997340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	519	144997340	1366682	9444	17156											
PLEC	5339	broad.mit.edu	37	chr8	144997397	144997397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcctccatctgcacgcGcaccgagaagagctcctcct	8	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997397G>A	ENST00000322810.4	-	31	7280	c.7111C>T	c.(7111-7113)Cgc>Tgc	p.R2371C	PLEC_ENST00000354958.2_Missense_Mutation_p.R2212C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2257C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2261C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2202C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2234C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2220C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2234C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2238C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2371	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCTGCACGCGCACCGAGAAG	0.642													False	0	False	8:144997397	0	A	144997397	G	A	144997397	3	1	88	1	0	0	0	0	1	0	0	0	12121	1087	38	1	6951	1	PLEC	8	144997397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57	144997397	1366625	9445	17157											
PLEC	5339	broad.mit.edu	37	chr8	144997698	144997698	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgcagcttctctgcagcCgcctgtgcctgagcccgggc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997698C>T	ENST00000322810.4	-	31	6979	c.6810G>A	c.(6808-6810)gcG>gcA	p.A2270A	PLEC_ENST00000354958.2_Silent_p.A2111A|PLEC_ENST00000527096.1_Silent_p.A2156A|PLEC_ENST00000436759.2_Silent_p.A2160A|PLEC_ENST00000398774.2_Silent_p.A2101A|PLEC_ENST00000354589.3_Silent_p.A2133A|PLEC_ENST00000356346.3_Silent_p.A2119A|PLEC_ENST00000345136.3_Silent_p.A2133A|PLEC_ENST00000357649.2_Silent_p.A2137A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2270	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCTGCAGCCGCCTGTGCCT	0.736													False	0	False	8:144997698	0	T	144997698	C	T	144997698	2	4	88	1	0	0	0	0	0	0	0	1	12121	639	23	1		1	PLEC	8	144997698	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	301	144997698	1366324	9446	17158											
PLEC	5339	broad.mit.edu	37	chr8	145001678	145001678	+	Frame_Shift_Del	DEL	A	A	-													cgtcctgcagccaggcgcccAaggggtctgcactctcgcgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145001678delA	ENST00000322810.4	-	27	4236	c.4067delT	c.(4066-4068)ttgfs	p.L1356fs	PLEC_ENST00000398774.2_Frame_Shift_Del_p.L1187fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.L1223fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.L1219fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.L1242fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.L1197fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.L1205fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.L1246fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.L1219fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1356	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCAGGCGCCCAAGGGGTCTGC	0.721													False	2	True	8:145001678	0	-	145001678	A	-	145001678	7	5	88	1	0	1	0	1	0	0	0	0	12121	131	5	0	10011	0	PLEC	8	145001678	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	3980	145001678	1362344	9447	17159											
PLEC	5339	broad.mit.edu	37	chr8	145004326	145004326	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccacctggtgacggcctcCtgggcctcctggttgggcgg	15	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145004326C>A	ENST00000322810.4	-	21	3178	c.3009G>T	c.(3007-3009)caG>caT	p.Q1003H	PLEC_ENST00000354958.2_Missense_Mutation_p.Q844H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q889H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q893H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q834H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q866H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q852H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q866H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q870H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1003	Globular 1.		Missing (in MD-EBS).		cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGACGGCCTCCTGGGCCTCCT	0.726													False	0	False	8:145004326	0	A	145004326	C	A	145004326	3	1	88	1	0	0	0	0	1	0	0	0	12121	680	24	3	11093	3	PLEC	8	145004326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2648	145004326	1359696	9448	17160											
PLEC	5339	broad.mit.edu	37	chr8	145007091	145007091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcgccatccacacggtgcTggttctcctccacccaggcc	9	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145007091T>G	ENST00000322810.4	-	14	2187	c.2018A>C	c.(2017-2019)cAg>cCg	p.Q673P	PLEC_ENST00000354958.2_Missense_Mutation_p.Q514P|PLEC_ENST00000527096.1_Missense_Mutation_p.Q559P|PLEC_ENST00000436759.2_Missense_Mutation_p.Q563P|PLEC_ENST00000398774.2_Missense_Mutation_p.Q504P|PLEC_ENST00000354589.3_Missense_Mutation_p.Q536P|PLEC_ENST00000356346.3_Missense_Mutation_p.Q522P|PLEC_ENST00000345136.3_Missense_Mutation_p.Q536P|PLEC_ENST00000357649.2_Missense_Mutation_p.Q540P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	673	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACACGGTGCTGGTTCTCCTC	0.672													False	0	False	8:145007091	0	G	145007091	T	G	145007091	3	3	88	1	0	0	0	0	1	0	0	0	12121	1580	55	4	12112	4	PLEC	8	145007091	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2765	145007091	1356931	9449	17161											
PLEC	5339	broad.mit.edu	37	chr8	145007511	145007511	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actttgcctgcagccagcagCcggacatcctgcaaggtcgt	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145007511C>A	ENST00000322810.4	-	13	1852	c.1683G>T	c.(1681-1683)cgG>cgT	p.R561R	PLEC_ENST00000354958.2_Silent_p.R402R|PLEC_ENST00000527096.1_Silent_p.R447R|PLEC_ENST00000436759.2_Silent_p.R451R|PLEC_ENST00000398774.2_Silent_p.R392R|PLEC_ENST00000354589.3_Silent_p.R424R|PLEC_ENST00000356346.3_Silent_p.R410R|PLEC_ENST00000345136.3_Silent_p.R424R|PLEC_ENST00000357649.2_Silent_p.R428R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	561	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCCAGCAGCCGGACATCCT	0.647													False	0	False	8:145007511	0	A	145007511	C	A	145007511	2	1	88	1	0	0	0	0	0	0	0	1	12121	726	26	3		3	PLEC	8	145007511	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	420	145007511	1356511	9450	17162											
PLEC	5339	broad.mit.edu	37	chr8	145008523	145008523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcttctcccgctccaGgatggccacgtgcagcttgc	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145008523G>T	ENST00000322810.4	-	11	1712	c.1543C>A	c.(1543-1545)Ctg>Atg	p.L515M	PLEC_ENST00000354958.2_Missense_Mutation_p.L356M|PLEC_ENST00000527096.1_Missense_Mutation_p.L401M|PLEC_ENST00000436759.2_Missense_Mutation_p.L405M|PLEC_ENST00000398774.2_Missense_Mutation_p.L346M|PLEC_ENST00000354589.3_Missense_Mutation_p.L378M|PLEC_ENST00000356346.3_Missense_Mutation_p.L364M|PLEC_ENST00000345136.3_Missense_Mutation_p.L378M|PLEC_ENST00000357649.2_Missense_Mutation_p.L382M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	515	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCCGCTCCAGGATGGCCACG	0.652													False	0	False	8:145008523	0	T	145008523	G	T	145008523	3	4	88	1	0	0	0	0	1	0	0	0	12121	991	35	3	12599	3	PLEC	8	145008523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1012	145008523	1355499	9451	17163											
PLEC	5339	broad.mit.edu	37	chr8	145024727	145024727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagggacgccatggcacGcatgacctgcaggttggtga	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145024727G>A	ENST00000322810.4	-	1	317	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	50	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCATGGCACGCATGACCTGC	0.667													False	0	False	8:145024727	0	A	145024727	G	A	145024727	3	1	88	1	0	0	0	0	1	0	0	0	12121	1087	38	1	14414	1	PLEC	8	145024727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16204	145024727	1339295	9452	17164											
PLEC	5339	broad.mit.edu	37	chr8	145024774	145024774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacatgggggtgcaagctgCggggccgccggtccttcttg	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145024774C>T	ENST00000322810.4	-	1	270	c.101G>A	c.(100-102)cGc>cAc	p.R34H	PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	34	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGCAAGCTGCGGGGCCGCCG	0.692													False	0	True	8:145024774	0	T	145024774	C	T	145024774	3	4	88	1	0	0	0	0	1	0	0	0	12121	768	27	1	14461	1	PLEC	8	145024774	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47	145024774	1339248	9453	17165											
PARP10	84875	broad.mit.edu	37	chr8	145057668	145057668	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtccccccatctgggggctCttctgcctccaacgggggct	12	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145057668C>A	ENST00000313028.7	-	8	2183	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	PARP10_ENST00000525773.1_Nonsense_Mutation_p.E709*|PARP10_ENST00000524918.1_Nonsense_Mutation_p.E688*	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	697	Glu-rich.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTGGGGGCTCTTCTGCCTCC	0.667													False	0	False	8:145057668	0	A	145057668	C	A	145057668	4	1	88	1	0	0	0	0	0	1	0	0	11523	922	32	3	1004	3	PARP10	8	145057668	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32894	145057668	1306354	9454	17166											
SPATC1	375686	broad.mit.edu	37	chr8	145095869	145095869	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacacaacgcccactccccAcctcgtacctcatcctcccc	2	25	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145095869A>G	ENST00000377470.3	+	3	1269	c.1167A>G	c.(1165-1167)ccA>ccG	p.P389P	SPATC1_ENST00000447830.2_Silent_p.P389P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	389										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCACTCCCCACCTCGTACCT	0.612													False	0	True	8:145095869	0	G	145095869	A	G	145095869	2	3	88	1	0	0	0	0	0	0	0	1	15099	146	6	4		4	SPATC1	8	145095869	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38201	145095869	1268153	9455	17167											
OPLAH	26873	broad.mit.edu	37	chr8	145109470	145109470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccactcccactcaccctcctCctggaagacgcccccctgga	6	22	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145109470C>T	ENST00000426825.1	-	19	2761	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	894							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TCACCCTCCTCCTGGAAGACG	0.647													False	0	True	8:145109470	0	T	145109470	C	T	145109470	3	4	88	1	0	0	0	0	1	0	0	0	10944	864	30	2	1224	2	OPLAH	8	145109470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13601	145109470	1254552	9456	17168											
OPLAH	26873	broad.mit.edu	37	chr8	145111082	145111082	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgatgaggcagggcccatgGagcttgtgcccatagcccag	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145111082G>A	ENST00000426825.1	-	15	2145	c.2064C>T	c.(2062-2064)ctC>ctT	p.L688L	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	688							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AGGGCCCATGGAGCTTGTGCC	0.642													False	0	False	8:145111082	0	A	145111082	G	A	145111082	2	1	88	1	0	0	0	0	0	0	0	1	10944	1161	41	2		2	OPLAH	8	145111082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1612	145111082	1252940	9457	17169											
OPLAH	26873	broad.mit.edu	37	chr8	145112597	145112597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggaccagattagcatcCgtcactgtcacagggccccc	9	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145112597C>T	ENST00000426825.1	-	10	1257	c.1176G>A	c.(1174-1176)acG>acA	p.T392T	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	392							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GATTAGCATCCGTCACTGTCA	0.647													False	0	False	8:145112597	0	T	145112597	C	T	145112597	2	4	88	1	0	0	0	0	0	0	0	1	10944	639	23	1		1	OPLAH	8	145112597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1515	145112597	1251425	9458	17170											
OPLAH	26873	broad.mit.edu	37	chr8	145114642	145114642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcccatgcggatgctggCgatatgactggagtccagcg	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145114642C>T	ENST00000426825.1	-	3	304	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	75							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGGATGCTGGCGATATGACTG	0.687													False	0	False	8:145114642	0	T	145114642	C	T	145114642	3	4	88	1	0	0	0	0	1	0	0	0	10944	768	27	1	3745	1	OPLAH	8	145114642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2045	145114642	1249380	9459	17171											
OPLAH	26873	broad.mit.edu	37	chr8	145114814	145114814	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgcgtccgcatagttgGcagggtcctctgagagcagt	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145114814G>T	ENST00000426825.1	-	2	203	c.122C>A	c.(121-123)gCc>gAc	p.A41D	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	41							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGCATAGTTGGCAGGGTCCTC	0.657													False	0	False	8:145114814	0	T	145114814	G	T	145114814	3	4	88	1	0	0	0	0	1	0	0	0	10944	1203	42	3	3850	3	OPLAH	8	145114814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172	145114814	1249208	9460	17172											
CYC1	1537	broad.mit.edu	37	chr8	145151980	145151980	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagccaaggatgtgtgcacCttcctgcgctgggcatctga	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145151980C>A	ENST00000318911.4	+	6	889	c.816C>A	c.(814-816)acC>acA	p.T272T		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	272					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTGTGCACCTTCCTGCGCT	0.572													False	0	False	8:145151980	0	A	145151980	C	A	145151980	2	1	88	1	0	0	0	0	0	0	0	1	4160	668	24	3		3	CYC1	8	145151980	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37166	145151980	1212042	9461	17173											
HSF1	3297	broad.mit.edu	37	chr8	145533580	145533580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaagctcctggccatgaaGcagtaggtcccacaccagca	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145533580G>A	ENST00000528838.1	+	4	646	c.486G>A	c.(484-486)aaG>aaA	p.K162K	HSF1_ENST00000400780.4_Silent_p.K97K	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	162	Hydrophobic repeat HR-A/B.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGGCCATGAAGCAGTAGGTCC	0.647													False	0	False	8:145533580	0	A	145533580	G	A	145533580	2	1	88	1	0	0	0	0	0	0	0	1	7442	962	34	2		2	HSF1	8	145533580	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	381600	145533580	830442	9462	17174											
DGAT1	8694	broad.mit.edu	37	chr8	145541760	145541760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacagaggtcctcaccgCggtaggtcagattgtccggg	14	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145541760C>T	ENST00000332324.4	-	8	1022	c.749G>A	c.(748-750)cGc>cAc	p.R250H	DGAT1_ENST00000531896.1_Silent_p.P280P	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	250					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GTCCTCACCGCGGTAGGTCAG	0.632													False	0	False	8:145541760	0	T	145541760	C	T	145541760	3	4	88	1	0	0	0	0	1	0	0	0	4487	768	27	1	757	1	DGAT1	8	145541760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8180	145541760	822262	9463	17175											
DGAT1	8694	broad.mit.edu	37	chr8	145542724	145542724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaaataaccgggcattgCtcaagatctgcgagggatgg	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145542724C>T	ENST00000332324.4	-	3	569	c.296G>A	c.(295-297)aGc>aAc	p.S99N	DGAT1_ENST00000531896.1_Missense_Mutation_p.S99N	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	99					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCGGGCATTGCTCAAGATCTG	0.632													False	0	False	8:145542724	0	T	145542724	C	T	145542724	3	4	88	1	0	0	0	0	1	0	0	0	4487	797	28	2	1230	2	DGAT1	8	145542724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	964	145542724	821298	9464	17176											
CPSF1	29894	broad.mit.edu	37	chr8	145620531	145620531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtcatgcgtgggatgcGggcacacggcgtgttggtgc	18	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145620531G>A	ENST00000349769.3	-	28	3230	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1046					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGTGGGATGCGGGCACACGGC	0.627													False	0	True	8:145620531	0	A	145620531	G	A	145620531	3	1	88	1	0	0	0	0	1	0	0	0	3847	1116	39	1	1239	1	CPSF1	8	145620531	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77807	145620531	743491	9465	17177											
CPSF1	29894	broad.mit.edu	37	chr8	145623813	145623813	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggtgtccagctccatgatCtcctgccccgtctgcaggat	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145623813C>A	ENST00000349769.3	-	19	1867	c.1773G>T	c.(1771-1773)gaG>gaT	p.E591D		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	591					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCTCCATGATCTCCTGCCCCG	0.672													False	0	False	8:145623813	0	A	145623813	C	A	145623813	3	1	88	1	0	0	0	0	1	0	0	0	3847	912	32	3	2638	3	CPSF1	8	145623813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3282	145623813	740209	9466	17178											
CPSF1	29894	broad.mit.edu	37	chr8	145625850	145625850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtgatgttcagtgagatggCcacaatggagcacgtgtcct	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145625850C>A	ENST00000349769.3	-	8	818	c.724G>T	c.(724-726)Gcc>Tcc	p.A242S		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	242					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGTGAGATGGCCACAATGGAG	0.662													False	0	False	8:145625850	0	A	145625850	C	A	145625850	3	1	88	1	0	0	0	0	1	0	0	0	3847	739	26	3	3731	3	CPSF1	8	145625850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2037	145625850	738172	9467	17179											
SLC39A4	55630	broad.mit.edu	37	chr8	145638654	145638654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactcgtggcagaacacggCcagcgaggtggccagcccgg	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145638654C>T	ENST00000276833.5	-	9	1822	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T	SLC39A4_ENST00000301305.3_Missense_Mutation_p.A532T|SLC39A4_ENST00000531013.1_5'UTR	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	532						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGAACACGGCCAGCGAGGTG	0.711													False	0	False	8:145638654	0	T	145638654	C	T	145638654	3	4	88	1	0	0	0	0	1	0	0	0	14700	739	26	2	361	2	SLC39A4	8	145638654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12804	145638654	725368	9468	17180											
SLC39A4	55630	broad.mit.edu	37	chr8	145640153	145640153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggacggggggcctggactggGaggtgcaggctccactcagc	19	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145640153G>T	ENST00000276833.5	-	4	1160	c.857C>A	c.(856-858)tCc>tAc	p.S286Y	SLC39A4_ENST00000301305.3_Missense_Mutation_p.S311Y	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	311						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CCTGGACTGGGAGGTGCAGGC	0.657													False	0	True	8:145640153	0	T	145640153	G	T	145640153	3	4	88	1	0	0	0	0	1	0	0	0	14700	1174	41	3	1043	3	SLC39A4	8	145640153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1499	145640153	723869	9469	17181											
SLC39A4	55630	broad.mit.edu	37	chr8	145641572	145641572	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgagggcctgtttccctttcAagtccaacaacgtccaccat	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145641572A>G	ENST00000276833.5	-	1	324	c.21T>C	c.(19-21)ctT>ctC	p.L7L	SLC39A4_ENST00000301305.3_Intron	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	0						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TTTCCCTTTCAAGTCCAACAA	0.672													False	0	False	8:145641572	0	G	145641572	A	G	145641572	2	3	88	1	0	0	0	0	0	0	0	1	14700	117	5	4		4	SLC39A4	8	145641572	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1419	145641572	722450	9470	17182											
PPP1R16A	84988	broad.mit.edu	37	chr8	145724155	145724155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccacctttttgcagtcCgccagttccttgggagtggg	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145724155C>T	ENST00000292539.4	+	3	1179	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R88C|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	88						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTTTGCAGTCCGCCAGTTCCT	0.652													False	0	False	8:145724155	0	T	145724155	C	T	145724155	3	4	88	1	0	0	0	0	1	0	0	0	12439	652	23	1	268	1	PPP1R16A	8	145724155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82583	145724155	639867	9471	17183											
PPP1R16A	84988	broad.mit.edu	37	chr8	145725514	145725514	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtcaacaccgacgggaAcatgccctatgacctgtgtg	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145725514A>C	ENST00000292539.4	+	5	1429	c.512A>C	c.(511-513)aAc>aCc	p.N171T	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.N171T|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	171						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACCGACGGGAACATGCCCTAT	0.657													False	0	False	8:145725514	0	C	145725514	A	C	145725514	3	2	88	1	0	0	0	0	1	0	0	0	12439	43	2	4	526	4	PPP1R16A	8	145725514	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1359	145725514	638508	9472	17184											
GPT	2875	broad.mit.edu	37	chr8	145729820	145729820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggccccatagtgcagcgaGccttggagctggagcaggag	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145729820G>T	ENST00000394955.2	+	1	356	c.133G>T	c.(133-135)Gcc>Tcc	p.A45S	GPT_ENST00000528431.1_Missense_Mutation_p.A45S	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	45					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGTGCAGCGAGCCTTGGAGCT	0.682													False	0	False	8:145729820	0	T	145729820	G	T	145729820	3	4	88	1	0	0	0	0	1	0	0	0	6784	971	34	3	135	3	GPT	8	145729820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4306	145729820	634202	9473	17185											
RECQL4	9401	broad.mit.edu	37	chr8	145740380	145740380	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggcaggggctgcgccgGctgtagagcagcgctgggag	21	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145740380G>A	ENST00000428558.2	-	9	1601	c.1560C>T	c.(1558-1560)agC>agT	p.S520S	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	520	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCTGCGCCGGCTGTAGAGCA	0.652			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				False	0	False	8:145740380	0	A	145740380	G	A	145740380	2	1	88	1	0	0	0	0	0	0	0	1	13281	1194	42	2		2	RECQL4	8	145740380	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10560	145740380	623642	9474	17186											
RECQL4	9401	broad.mit.edu	37	chr8	145741444	145741444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcatgttgagccgtacGtaattgcccctgtcatggcg	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145741444G>A	ENST00000428558.2	-	5	1100	c.1059C>T	c.(1057-1059)taC>taT	p.Y353Y	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	353					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGAGCCGTACGTAATTGCCCC	0.642			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				False	0	True	8:145741444	0	A	145741444	G	A	145741444	2	1	88	1	0	0	0	0	0	0	0	1	13281	1140	40	1		1	RECQL4	8	145741444	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1064	145741444	622578	9475	17187											
LRRC14	9684	broad.mit.edu	37	chr8	145745329	145745329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgcccactgcagccgtGccctcctgcaggagcggcct	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145745329G>A	ENST00000292524.1	+	2	366	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	LRRC14_ENST00000529022.1_Missense_Mutation_p.A74T	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	74										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCAGCCGTGCCCTCCTGCA	0.637													False	0	True	8:145745329	0	A	145745329	G	A	145745329	3	1	88	1	0	0	0	0	1	0	0	0	9030	1319	46	2	222	2	LRRC14	8	145745329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3885	145745329	618693	9476	17188											
LRRC14	9684	broad.mit.edu	37	chr8	145745828	145745828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaaccgggcctcctatgCgttcctgcgggaggcactcc	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145745828C>T	ENST00000292524.1	+	3	682	c.536C>T	c.(535-537)gCg>gTg	p.A179V	LRRC14_ENST00000529022.1_Missense_Mutation_p.A179V	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	179										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCTCCTATGCGTTCCTGCGG	0.711													False	0	False	8:145745828	0	T	145745828	C	T	145745828	3	4	88	1	0	0	0	0	1	0	0	0	9030	768	27	1	542	1	LRRC14	8	145745828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	499	145745828	618194	9477	17189											
LRRC14	9684	broad.mit.edu	37	chr8	145746029	145746029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcatcccacacgtggcccGcttccagcacctggccagcc	9	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145746029G>A	ENST00000292524.1	+	3	883	c.737G>A	c.(736-738)cGc>cAc	p.R246H	LRRC14_ENST00000529022.1_Missense_Mutation_p.R246H	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	246										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CACGTGGCCCGCTTCCAGCAC	0.642													False	0	True	8:145746029	0	A	145746029	G	A	145746029	3	1	88	1	0	0	0	0	1	0	0	0	9030	1087	38	1	743	1	LRRC14	8	145746029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201	145746029	617993	9478	17190											
ARHGAP39	80728	broad.mit.edu	37	chr8	145757761	145757761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcttcagggcattcacctCgtcaatgtccccagggaccc	9	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145757761C>T	ENST00000276826.5	-	8	3016	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E939K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E970K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	939	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCATTCACCTCGTCAATGTCC	0.642													False	0	False	8:145757761	0	T	145757761	C	T	145757761	3	4	88	1	0	0	0	0	1	0	0	0	886	893	31	1	448	1	ARHGAP39	8	145757761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11732	145757761	606261	9479	17191											
ARHGAP39	80728	broad.mit.edu	37	chr8	145770921	145770921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggatcagcttgaagagctCgcaggcctccttcttcacgt	10	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145770921C>T	ENST00000276826.5	-	5	2434	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E745K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E745K|ARHGAP39_ENST00000528810.1_5'UTR			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	745	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TTGAAGAGCTCGCAGGCCTCC	0.632													False	0	False	8:145770921	0	T	145770921	C	T	145770921	3	4	88	1	0	0	0	0	1	0	0	0	886	893	31	1	1139	1	ARHGAP39	8	145770921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13160	145770921	593101	9480	17192											
ARHGAP39	80728	broad.mit.edu	37	chr8	145771066	145771066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagtgcttggaggcccaGttctcgatgtccgtctccga	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145771066G>T	ENST00000276826.5	-	5	2289	c.2088C>A	c.(2086-2088)aaC>aaA	p.N696K	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.N696K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.N696K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	696					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGGAGGCCCAGTTCTCGATGT	0.637													False	0	False	8:145771066	0	T	145771066	G	T	145771066	3	4	88	1	0	0	0	0	1	0	0	0	886	1020	36	3	1284	3	ARHGAP39	8	145771066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145	145771066	592956	9481	17193											
ZNF251	90987	broad.mit.edu	37	chr8	145948338	145948338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaccggccacattcgtacGgcttctccccagtgtgactt	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145948338G>A	ENST00000292562.7	-	5	982	c.707C>T	c.(706-708)cCg>cTg	p.P236L	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACATTCGTACGGCTTCTCCCC	0.423													False	0	False	8:145948338	0	A	145948338	G	A	145948338	3	1	88	1	0	0	0	0	1	0	0	0	17879	1116	39	1	1312	1	ZNF251	8	145948338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177272	145948338	415684	9482	17194											
ZNF34	80778	broad.mit.edu	37	chr8	145999156	145999156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctttgccacattccttgCactcaaatggcttctctccg	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145999156C>T	ENST00000429371.2	-	6	1268	c.1115G>A	c.(1114-1116)tGc>tAc	p.C372Y	ZNF34_ENST00000343459.4_Missense_Mutation_p.C393Y	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		ACATTCCTTGCACTCAAATGG	0.428													False	0	False	8:145999156	0	T	145999156	C	T	145999156	3	4	88	1	0	0	0	0	1	0	0	0	17939	710	25	2	508	2	ZNF34	8	145999156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50818	145999156	364866	9483	17195											
ZNF517	340385	broad.mit.edu	37	chr8	146033667	146033667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggccataccggtgccgcGcctgcgggagggcctgcagc	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146033667G>A	ENST00000359971.3	+	5	1473	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	ZNF517_ENST00000531720.1_Missense_Mutation_p.A456T|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CCGGTGCCGCGCCTGCGGGAG	0.721													False	0	False	8:146033667	0	A	146033667	G	A	146033667	3	1	88	1	0	0	0	0	1	0	0	0	18044	1087	38	1	1380	1	ZNF517	8	146033667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34511	146033667	330355	9484	17196											
ZNF250	58500	broad.mit.edu	37	chr8	146107485	146107485	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacactcgctgcacgtgtaGggcttctccccggtgtggat	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146107485G>T	ENST00000292579.7	-	6	1214	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Silent_p.P361P	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGCACGTGTAGGGCTTCTCCC	0.582													False	0	True	8:146107485	0	T	146107485	G	T	146107485	2	4	88	1	0	0	0	0	0	0	0	1	17878	987	35	3		3	ZNF250	8	146107485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73818	146107485	256537	9485	17197											
ZNF16	7564	broad.mit.edu	37	chr8	146156950	146156950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggcttgccacaatcaTtacactcataaggcttctct	7	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146156950T>G	ENST00000276816.4	-	4	1409	c.1223A>C	c.(1222-1224)aAt>aCt	p.N408T	ZNF16_ENST00000394909.2_Missense_Mutation_p.N408T	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GCCACAATCATTACACTCATA	0.527													False	0	False	8:146156950	0	G	146156950	T	G	146156950	3	3	88	1	0	0	0	0	1	0	0	0	17821	1493	52	4	829	4	ZNF16	8	146156950	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49465	146156950	207072	9486	17198											
C8orf33	65265	broad.mit.edu	37	chr8	146278525	146278525	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaggcagaaacccaccccGaaacagagtaagggaccctt	10	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146278525G>A	ENST00000331434.6	+	3	510	c.396G>A	c.(394-396)ccG>ccA	p.P132P		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	132										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		AACCCACCCCGAAACAGAGTA	0.577													False	0	True	8:146278525	0	A	146278525	G	A	146278525	2	1	88	1	0	0	0	0	0	0	0	1	2441	1045	37	1		1	C8orf33	8	146278525	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121575	146278525	85497	9487	17199											
FOXD4	2298	broad.mit.edu	37	chr9	117437	117437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagcagagggcctgggCgggggttgtgcagggcggcg	21	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117437C>T	ENST00000382500.2	-	1	980	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	228	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R228H(1)		endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGGGCCTGGGCGGGGGTTGTG	0.741													False	0	True	9:117437	0	T	117437	C	T	117437	3	4	88	1	0	0	0	0	1	0	0	0	6039	768	27	1	640	1	FOXD4	9	117437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		117437	141095994	9488	17200											
FOXD4	2298	broad.mit.edu	37	chr9	118009	118009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctcgccgcctcctcctcGtcttcatcttcctcctctcc	5	21	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:118009G>A	ENST00000382500.2	-	1	408	c.111C>T	c.(109-111)gaC>gaT	p.D37D		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	37					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCTCCTCCTCGTCTTCATCTT	0.662													False	0	True	9:118009	0	A	118009	G	A	118009	2	1	88	1	0	0	0	0	0	0	0	1	6039	1136	40	1		1	FOXD4	9	118009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	572	118009	141095422	9489	17201											
DOCK8	81704	broad.mit.edu	37	chr9	372257	372257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgccttggaaaaattgCcacccaactactccatgcat	6	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:372257C>T	ENST00000432829.2	+	18	2192	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000453981.1_Missense_Mutation_p.P694S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	694					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAAAATTGCCACCCAACTA	0.448													False	0	False	9:372257	0	T	372257	C	T	372257	3	4	88	1	0	0	0	0	1	0	0	0	4723	739	26	2	2150	2	DOCK8	9	372257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254248	372257	140841174	9490	17202											
DOCK8	81704	broad.mit.edu	37	chr9	376229	376229	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtcccattacagaatcCtcccattaagtgggctgaag	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:376229C>A	ENST00000432829.2	+	19	2241	c.1925C>A	c.(1924-1926)cCt>cAt	p.P642H	DOCK8_ENST00000382329.1_Missense_Mutation_p.P177H|DOCK8_ENST00000382331.1_Missense_Mutation_p.P12H|DOCK8_ENST00000453981.1_Missense_Mutation_p.P710H|DOCK8_ENST00000469391.1_Missense_Mutation_p.P642H	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	710					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTACAGAATCCTCCCATTAAG	0.373													False	0	False	9:376229	0	A	376229	C	A	376229	3	1	88	1	0	0	0	0	1	0	0	0	4723	681	24	3	2203	3	DOCK8	9	376229	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3972	376229	140837202	9491	17203											
DOCK8	81704	broad.mit.edu	37	chr9	382633	382633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtaacccagacctcgCggggacacactccgcagcag	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:382633C>T	ENST00000432829.2	+	22	2838	c.2522C>T	c.(2521-2523)gCg>gTg	p.A841V	DOCK8_ENST00000382329.1_Missense_Mutation_p.A376V|DOCK8_ENST00000382331.1_Missense_Mutation_p.A211V|DOCK8_ENST00000453981.1_Missense_Mutation_p.A909V|DOCK8_ENST00000469391.1_Missense_Mutation_p.A841V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	909					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCAGACCTCGCGGGGACACAC	0.542													False	0	True	9:382633	0	T	382633	C	T	382633	3	4	88	1	0	0	0	0	1	0	0	0	4723	768	27	1	2812	1	DOCK8	9	382633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6404	382633	140830798	9492	17204											
DOCK8	81704	broad.mit.edu	37	chr9	421012	421012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcaagggatgtcaaggccCggctggaagaggctttgctc	15	9	2	1	rs142093178		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:421012C>T	ENST00000432829.2	+	32	4199	c.3883C>T	c.(3883-3885)Cgg>Tgg	p.R1295W	DOCK8_ENST00000382329.1_Missense_Mutation_p.R830W|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000453981.1_Missense_Mutation_p.R1363W|DOCK8_ENST00000469391.1_Missense_Mutation_p.R1263W	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1363					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGTCAAGGCCCGGCTGGAAGA	0.582													False	0	True	9:421012	0	T	421012	C	T	421012	3	4	88	1	0	0	0	0	1	0	0	0	4723	643	23	1	4213	1	DOCK8	9	421012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38379	421012	140792419	9493	17205											
KANK1	23189	broad.mit.edu	37	chr9	712587	712587	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaacaggcagcaacacagaGgagtctgtgaacgacctcac	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:712587G>T	ENST00000382303.1	+	7	2473	c.1821G>T	c.(1819-1821)gaG>gaT	p.E607D	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.E607D|KANK1_ENST00000382293.3_Missense_Mutation_p.E449D	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	607					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCAACACAGAGGAGTCTGTGA	0.507													False	0	False	9:712587	0	T	712587	G	T	712587	3	4	88	1	0	0	0	0	1	0	0	0	8026	991	35	3	1827	3	KANK1	9	712587	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291575	712587	140500844	9494	17206											
DMRT1	1761	broad.mit.edu	37	chr9	847106	847106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcagtggcacctctcaGccaccgccggccagtgtccc	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:847106G>T	ENST00000382276.3	+	2	650	c.501G>T	c.(499-501)caG>caT	p.Q167H	DMRT1_ENST00000569227.1_Missense_Mutation_p.Q9H	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	167					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GCACCTCTCAGCCACCGCCGG	0.627													False	0	False	9:847106	0	T	847106	G	T	847106	3	4	88	1	0	0	0	0	1	0	0	0	4615	962	34	3	507	3	DMRT1	9	847106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134519	847106	140366325	9495	17207											
DMRT3	58524	broad.mit.edu	37	chr9	977109	977109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgctgccgcaaccatggCgtcctgtcctggctcaaggg	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:977109C>T	ENST00000190165.2	+	1	146	c.108C>T	c.(106-108)ggC>ggT	p.G36G		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	36					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GCAACCATGGCGTCCTGTCCT	0.682													False	0	True	9:977109	0	T	977109	C	T	977109	2	4	88	1	0	0	0	0	0	0	0	1	4617	755	27	1		1	DMRT3	9	977109	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130003	977109	140236322	9496	17208											
SMARCA2	6595	broad.mit.edu	37	chr9	2073274	2073274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgactcacacagaaaccggCaaggttctgttcggaccaga	11	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2073274C>T	ENST00000382203.1	+	11	2018	c.1809C>T	c.(1807-1809)ggC>ggT	p.G603G	SMARCA2_ENST00000357248.2_Silent_p.G603G|SMARCA2_ENST00000382194.1_Silent_p.G603G|SMARCA2_ENST00000349721.2_Silent_p.G603G			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	603					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAGAAACCGGCAAGGTTCTGT	0.502													False	0	False	9:2073274	0	T	2073274	C	T	2073274	2	4	88	1	0	0	0	0	0	0	0	1	14849	697	25	2		2	SMARCA2	9	2073274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1096165	2073274	139140157	9497	17209											
SMARCA2	6595	broad.mit.edu	37	chr9	2104068	2104068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattctgccaaaattgagagCgactaatcaccgagtgctgc	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2104068C>T	ENST00000382203.1	+	23	3400	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	SMARCA2_ENST00000357248.2_Missense_Mutation_p.A1064V|SMARCA2_ENST00000382194.1_Missense_Mutation_p.A1064V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.A1064V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1064	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAATTGAGAGCGACTAATCAC	0.443													False	0	False	9:2104068	0	T	2104068	C	T	2104068	3	4	88	1	0	0	0	0	1	0	0	0	14849	768	27	1	3277	1	SMARCA2	9	2104068	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30794	2104068	139109363	9498	17210											
SMARCA2	6595	broad.mit.edu	37	chr9	2119478	2119478	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagatgaagtaccggaCgatgagactctgaaccaaat	11	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2119478C>T	ENST00000382203.1	+	26	3914	c.3705C>T	c.(3703-3705)gaC>gaT	p.D1235D	SMARCA2_ENST00000357248.2_Silent_p.D1235D|SMARCA2_ENST00000382194.1_Silent_p.D1235D|SMARCA2_ENST00000349721.2_Silent_p.D1235D			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1235					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGTACCGGACGATGAGACTC	0.408													False	0	False	9:2119478	0	T	2119478	C	T	2119478	2	4	88	1	0	0	0	0	0	0	0	1	14849	535	19	1		1	SMARCA2	9	2119478	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15410	2119478	139093953	9499	17211											
SMARCA2	6595	broad.mit.edu	37	chr9	2161787	2161788	+	In_Frame_Ins	INS	-	-	TATATTTATATATAGCTCCAACAATTAGAATAAAAT													atcctgcaaaagaagatgtgINSgaaaaagctaagaagagaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2161787_2161788insTATATTTATATATAGCTCCAACAATTAGAATAAAAT	ENST00000382203.1	+	28	4292_4293	c.4083_4084insTATATTTATATATAGCTCCAACAATTAGAATAAAAT	c.(4084-4086)gaa>TATATTTATATATAGCTCCAACAATTAGAATAAAATgaa	p.1361_1362insYIYI*LQQLE*N	SMARCA2_ENST00000349721.2_In_Frame_Ins_p.1361_1362insYIYI*LQQLE*N|SMARCA2_ENST00000357248.2_In_Frame_Ins_p.1361_1362insYIYI*LQQLE*N|SMARCA2_ENST00000382185.1_In_Frame_Ins_p.25_26insYIYI*LQQLE*N|SMARCA2_ENST00000302401.3_In_Frame_Ins_p.67_68insYIYI*LQQLE*N|SMARCA2_ENST00000324954.5_In_Frame_Ins_p.25_26insYIYI*LQQLE*N|SMARCA2_ENST00000382186.1_In_Frame_Ins_p.25_26insYIYI*LQQLE*N|SMARCA2_ENST00000382194.1_In_Frame_Ins_p.1361_1362insYIYI*LQQLE*N			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1361					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGAAGATGTGGAAAAAGCTAA	0.455													False	0	True	9:2161787	0	TATATTTATATATAGCTCCAACAATTAGAATAAAAT	2161788	-	TATATTTATATATAGCTCCAACAATTAGAATAAAAT	2161787	7	5	88	1	0	1	1	0	0	0	0	0	14849	1335	47	0	4189	0	SMARCA2	9	2161787	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	42309	2161787	139051644	9500	17212											
VLDLR	7436	broad.mit.edu	37	chr9	2643913	2643913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcagcaaagtatgtaaccaGgagcaggactgcagggactg	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2643913G>T	ENST00000382100.3	+	7	1376	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H	VLDLR_ENST00000382099.2_Missense_Mutation_p.Q340H	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor		LDL-receptor class A 8.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TATGTAACCAGGAGCAGGACT	0.443													False	0	False	9:2643913	0	T	2643913	G	T	2643913	3	4	88	1	0	0	0	0	1	0	0	0	17258	991	35	3	1046	3	VLDLR	9	2643913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	482126	2643913	138569518	9501	17213											
KCNV2	169522	broad.mit.edu	37	chr9	2717904	2717904	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaactataactactacatCgaggaagacgaagacggcga	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2717904C>T	ENST00000382082.3	+	1	403	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	55						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		ACTACTACATCGAGGAAGACG	0.642													False	0	False	9:2717904	0	T	2717904	C	T	2717904	2	4	88	1	0	0	0	0	0	0	0	1	8145	874	31	1		1	KCNV2	9	2717904	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73991	2717904	138495527	9502	17214											
KCNV2	169522	broad.mit.edu	37	chr9	2718157	2718157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgccagctaagcctgtgcGacgactacgaggagcagaca	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2718157G>A	ENST00000382082.3	+	1	656	c.418G>A	c.(418-420)Gac>Aac	p.D140N		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	140						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AAGCCTGTGCGACGACTACGA	0.637													False	0	False	9:2718157	0	A	2718157	G	A	2718157	3	1	88	1	0	0	0	0	1	0	0	0	8145	1058	37	1	420	1	KCNV2	9	2718157	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253	2718157	138495274	9503	17215											
KCNV2	169522	broad.mit.edu	37	chr9	2719093	2719093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactcctggtggtgggccGcggtgagtacctttgccctg	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2719093G>A	ENST00000382082.3	+	1	1592	c.1354G>A	c.(1354-1356)Gcg>Acg	p.A452T		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	452						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A452T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTGGTGGGCCGCGGTGAGTAC	0.602													False	0	False	9:2719093	0	A	2719093	G	A	2719093	3	1	88	1	0	0	0	0	1	0	0	0	8145	1087	38	1	1356	1	KCNV2	9	2719093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	936	2719093	138494338	9504	17216											
KIAA0020	9933	broad.mit.edu	37	chr9	2811514	2811514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcttgggcgtgttcttgCaggtagcttaacaaagctgg	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2811514C>T	ENST00000397885.2	-	15	1688	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	494	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CGTGTTCTTGCAGGTAGCTTA	0.483													False	0	False	9:2811514	0	T	2811514	C	T	2811514	2	4	88	1	0	0	0	0	0	0	0	1	8202	697	25	2		2	KIAA0020	9	2811514	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92421	2811514	138401917	9505	17217											
GLIS3	169792	broad.mit.edu	37	chr9	3829351	3829351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaggctctgtggaaaacaTcaaaactggcctggcccatg	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:3829351T>C	ENST00000324333.10	-	9	2343	c.2150A>G	c.(2149-2151)gAt>gGt	p.D717G	GLIS3_ENST00000381971.3_Missense_Mutation_p.D872G|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	717					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTGGAAAACATCAAAACTGGC	0.537													False	0	False	9:3829351	0	C	3829351	T	C	3829351	3	2	88	1	0	0	0	0	1	0	0	0	6492	1435	50	4	185	4	GLIS3	9	3829351	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1017837	3829351	137384080	9506	17218											
GLIS3	169792	broad.mit.edu	37	chr9	4118509	4118509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggccaccaaggacgtgggCgacgtgcggatgatggtatt	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4118509C>T	ENST00000324333.10	-	3	697	c.504G>A	c.(502-504)tcG>tcA	p.S168S	GLIS3_ENST00000381971.3_Silent_p.S323S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	168					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGACGTGGGCGACGTGCGGA	0.647													False	0	True	9:4118509	0	T	4118509	C	T	4118509	2	4	88	1	0	0	0	0	0	0	0	1	6492	755	27	1		1	GLIS3	9	4118509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289158	4118509	137094922	9507	17219											
GLIS3	169792	broad.mit.edu	37	chr9	4286138	4286138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggtgacctggaatcgCggcttcccattggtgagcat	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4286138C>T	ENST00000381971.3	-	2	881	c.288G>A	c.(286-288)ccG>ccA	p.P96P		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	328	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCTGGAATCGCGGCTTCCCAT	0.557													False	0	False	9:4286138	0	T	4286138	C	T	4286138	2	4	88	1	0	0	0	0	0	0	0	1	6492	755	27	1		1	GLIS3	9	4286138	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167629	4286138	136927293	9508	17220											
SLC1A1	6505	broad.mit.edu	37	chr9	4576049	4576049	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctgatatatttcatagtCgtacgaaagaaccctttccg	7	11	1	2	rs137855083		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576049C>T	ENST00000262352.3	+	9	1160	c.924C>T	c.(922-924)gtC>gtT	p.V308V		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	308					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	ATTTCATAGTCGTACGAAAGA	0.443													False	0	False	9:4576049	0	T	4576049	C	T	4576049	2	4	88	1	0	0	0	0	0	0	0	1	14512	871	31	1		1	SLC1A1	9	4576049	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289911	4576049	136637382	9509	17221											
SLC1A1	6505	broad.mit.edu	37	chr9	4576732	4576732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgcacagttgaatgacctgGacttgggcattgggcagatc	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576732G>T	ENST00000262352.3	+	10	1398	c.1162G>T	c.(1162-1164)Gac>Tac	p.D388Y		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	388					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GAATGACCTGGACTTGGGCAT	0.488													False	0	False	9:4576732	0	T	4576732	G	T	4576732	3	4	88	1	0	0	0	0	1	0	0	0	14512	1174	41	3	1200	3	SLC1A1	9	4576732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	683	4576732	136636699	9510	17222											
SLC1A1	6505	broad.mit.edu	37	chr9	4576765	4576765	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcagatcatcaccatcaggTggggcatggtgtcacattca	12	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576765T>C	ENST00000262352.3	+	10	1429		c.e10+2			NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1						D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	CACCATCAGGTGGGGCATGGT	0.483													False	0	True	9:4576765	0	C	4576765	T	C	4576765	5	2	88	1	0	0	0	0	0	0	1	0	14512	1710	59	4	1233	4	SLC1A1	9	4576765	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33	4576765	136636666	9511	17223											
SLC1A1	6505	broad.mit.edu	37	chr9	4583161	4583161	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcaccctgatcattgctgtCgactggctcctgtgagttgg	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4583161C>T	ENST00000262352.3	+	11	1553	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	439					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TCATTGCTGTCGACTGGCTCC	0.612													False	0	False	9:4583161	0	T	4583161	C	T	4583161	2	4	88	1	0	0	0	0	0	0	0	1	14512	871	31	1		1	SLC1A1	9	4583161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6396	4583161	136630270	9512	17224											
CDC37L1	55664	broad.mit.edu	37	chr9	4684890	4684890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatccagatgtatagccatgGaattgaattggcttgccaaa	9	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4684890G>A	ENST00000381854.3	+	2	348	c.146G>A	c.(145-147)gGa>gAa	p.G49E	CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Missense_Mutation_p.G49E	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	49	Self-association.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		TATAGCCATGGAATTGAATTG	0.373													False	0	True	9:4684890	0	A	4684890	G	A	4684890	3	1	88	1	0	0	0	0	1	0	0	0	3092	1174	41	2	152	2	CDC37L1	9	4684890	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101729	4684890	136528541	9513	17225											
AK3	50808	broad.mit.edu	37	chr9	4719298	4719298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctgcctgtggaagtgtcCttggaaaacctttataaagt	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4719298C>A	ENST00000381809.3	-	3	511	c.281G>T	c.(280-282)aGg>aTg	p.R94M	AK3_ENST00000359883.2_Missense_Mutation_p.R24M|AK3_ENST00000447596.4_Missense_Mutation_p.R54M	NM_016282.3	NP_057366.2	Q9UIJ7	KAD3_HUMAN	adenylate kinase 3	94					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)		TGGAAGTGTCCTTGGAAAACC	0.418													False	0	False	9:4719298	0	A	4719298	C	A	4719298	3	1	88	1	0	0	0	0	1	0	0	0	441	681	24	3	414	3	AK3	9	4719298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34408	4719298	136494133	9514	17226											
JAK2	3717	broad.mit.edu	37	chr9	5069022	5069022	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttataattaaacttatacagCgagaaaatgtcattgaatat	5	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5069022C>T	ENST00000381652.3	+	11	1821	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	JAK2_ENST00000544510.1_Splice_Site_p.R294*|JAK2_ENST00000539801.1_Splice_Site_p.R443*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	443	SH2; atypical.	Breakpoint for translocation to form PCM1-JAK2 fusion protein.			actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ACTTATACAGCGAGAAAATGT	0.328		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				False	0	False	9:5069022	0	T	5069022	C	T	5069022	5	4	88	1	0	0	0	0	0	0	1	0	7988	782	27	1	1361	1	JAK2	9	5069022	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	349724	5069022	136144409	9515	17227											
JAK2	3717	broad.mit.edu	37	chr9	5073726	5073726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcagcaagtatgatgaGcaagctttctcacaagcatt	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5073726G>T	ENST00000381652.3	+	14	2299	c.1805G>T	c.(1804-1806)aGc>aTc	p.S602I	JAK2_ENST00000544510.1_Missense_Mutation_p.S453I|JAK2_ENST00000539801.1_Missense_Mutation_p.S602I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	602	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AGTATGATGAGCAAGCTTTCT	0.353		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				False	0	False	9:5073726	0	T	5073726	G	T	5073726	3	4	88	1	0	0	0	0	1	0	0	0	7988	971	34	3	1851	3	JAK2	9	5073726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4704	5073726	136139705	9516	17228											
INSL6	11172	broad.mit.edu	37	chr9	5164187	5164187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcttgtcttaccaaggggtGaatatccctttttatcctta	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5164187G>A	ENST00000381641.3	-	2	433	c.368C>T	c.(367-369)tCa>tTa	p.S123L	INSL6_ENST00000510407.1_5'UTR	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	123						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		ACCAAGGGGTGAATATCCCTT	0.328													False	0	False	9:5164187	0	A	5164187	G	A	5164187	3	1	88	1	0	0	0	0	1	0	0	0	7820	1294	45	2	277	2	INSL6	9	5164187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90461	5164187	136049244	9517	17229											
RLN2	6019	broad.mit.edu	37	chr9	5300153	5300153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacatggcaacatttattaGccaatgcactgtagagttgt	8	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5300153G>A	ENST00000381627.3	-	2	891	c.503C>T	c.(502-504)gCt>gTt	p.A168V	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	168					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		ACATTTATTAGCCAATGCACT	0.373													False	0	False	9:5300153	0	A	5300153	G	A	5300153	3	1	88	1	0	0	0	0	1	0	0	0	13471	971	34	2	58	2	RLN2	9	5300153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135966	5300153	135913278	9518	17230											
CD274	29126	broad.mit.edu	37	chr9	5467858	5467858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatacacatttggaggagaCgtaatccagcattggaactt	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5467858C>T	ENST00000381577.3	+	7	955	c.869C>T	c.(868-870)aCg>aTg	p.T290M	CD274_ENST00000381573.4_Missense_Mutation_p.T176M|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	290					cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TTGGAGGAGACGTAATCCAGC	0.423			T	CIITA	"PMBL, Hodgkin Lymphona, "								False	0	False	9:5467858	0	T	5467858	C	T	5467858	3	4	88	1	0	0	0	0	1	0	0	0	3014	536	19	1	891	1	CD274	9	5467858	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167705	5467858	135745573	9519	17231											
KIAA1432	57589	broad.mit.edu	37	chr9	5754862	5754862	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaaaatatgatcgtgacaGgtggcttagcctggtggaat	13	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5754862G>T	ENST00000414202.2	+	15	1815	c.1624G>T	c.(1624-1626)Ggt>Tgt	p.G542C	KIAA1432_ENST00000449720.2_Missense_Mutation_p.G426C|KIAA1432_ENST00000381532.2_Missense_Mutation_p.G463C|KIAA1432_ENST00000251879.6_Missense_Mutation_p.G542C|KIAA1432_ENST00000418622.3_Missense_Mutation_p.G463C	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	542						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GATCGTGACAGGTGGCTTAGC	0.284													False	0	False	9:5754862	0	T	5754862	G	T	5754862	3	4	88	1	0	0	0	0	1	0	0	0	8283	1000	35	3	1441	3	KIAA1432	9	5754862	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287004	5754862	135458569	9520	17232											
KIAA1432	57589	broad.mit.edu	37	chr9	5774231	5774231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcaggatgggacttacgaCtgttctgtgtcctaacagtg	11	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5774231C>A	ENST00000414202.2	+	26	4448	c.4257C>A	c.(4255-4257)gaC>gaA	p.D1419E	KIAA1432_ENST00000449720.2_Missense_Mutation_p.D1303E|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D1340E	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1419						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGACTTACGACTGTTCTGTGT	0.488													False	0	False	9:5774231	0	A	5774231	C	A	5774231	3	1	88	1	0	0	0	0	1	0	0	0	8283	564	20	3	4192	3	KIAA1432	9	5774231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19369	5774231	135439200	9521	17233											
KIAA2026	158358	broad.mit.edu	37	chr9	5920791	5920791	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgcaaagctgatgttaaAcatttaggagacactactgg	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5920791A>G	ENST00000399933.3	-	8	5204	c.5205T>C	c.(5203-5205)tgT>tgC	p.C1735C	KIAA2026_ENST00000381461.2_Silent_p.C1705C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1735										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTGATGTTAAACATTTAGGAG	0.423													False	0	True	9:5920791	0	G	5920791	A	G	5920791	2	3	88	1	0	0	0	0	0	0	0	1	8320	41	2	4		4	KIAA2026	9	5920791	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	146560	5920791	135292640	9522	17234											
KIAA2026	158358	broad.mit.edu	37	chr9	6007544	6007544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcccaggatgcggtagcCctgctgtagctcgtaggtca	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6007544C>A	ENST00000399933.3	-	1	243	c.244G>T	c.(244-246)Ggc>Tgc	p.G82C	KIAA2026_ENST00000381461.2_Missense_Mutation_p.G82C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	82										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATGCGGTAGCCCTGCTGTAGC	0.662													False	0	True	9:6007544	0	A	6007544	C	A	6007544	3	1	88	1	0	0	0	0	1	0	0	0	8320	623	22	3	6099	3	KIAA2026	9	6007544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86753	6007544	135205887	9523	17235											
RANBP6	26953	broad.mit.edu	37	chr9	6014119	6014119	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatcaccaagacggaatgtaGatttttcaccatactatcca	5	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6014119G>T	ENST00000259569.5	-	1	1499	c.1489C>A	c.(1489-1491)Cta>Ata	p.L497I	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	497					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ACGGAATGTAGATTTTTCACC	0.383													False	0	False	9:6014119	0	T	6014119	G	T	6014119	3	4	88	1	0	0	0	0	1	0	0	0	13110	933	33	3	1832	3	RANBP6	9	6014119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6575	6014119	135199312	9524	17236											
RANBP6	26953	broad.mit.edu	37	chr9	6014299	6014299	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggaaattaggtgcaaaatCtgtagccatctgtccaagtg	10	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6014299C>A	ENST00000259569.5	-	1	1319	c.1309G>T	c.(1309-1311)Gat>Tat	p.D437Y	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	437					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GGTGCAAAATCTGTAGCCATC	0.418													False	0	False	9:6014299	0	A	6014299	C	A	6014299	3	1	88	1	0	0	0	0	1	0	0	0	13110	913	32	3	2012	3	RANBP6	9	6014299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180	6014299	135199132	9525	17237											
IL33	90865	broad.mit.edu	37	chr9	6241745	6241745	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaatttccacagcaaagtgGaagaacacagcaagcaaagc	8	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6241745G>A	ENST00000381434.3	+	1	64	c.51G>A	c.(49-51)tgG>tgA	p.W17*	IL33_ENST00000463336.1_3'UTR|IL33_ENST00000417746.2_Nonsense_Mutation_p.W17*|IL33_ENST00000456383.2_Nonsense_Mutation_p.W17*	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	17					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CAGCAAAGTGGAAGAACACAG	0.313													False	0	False	9:6241745	0	A	6241745	G	A	6241745	4	1	88	1	0	0	0	0	0	1	0	0	7743	1183	41	2	53	2	IL33	9	6241745	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227446	6241745	134971686	9526	17238											
IL33	90865	broad.mit.edu	37	chr9	6250583	6250583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagagaaaccaccaaaagGccttcactgaaaacaggtaa	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6250583G>A	ENST00000381434.3	+	2	214	c.201G>A	c.(199-201)agG>agA	p.R67R	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Silent_p.R67R	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	67					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CCACCAAAAGGCCTTCACTGA	0.408													False	0	False	9:6250583	0	A	6250583	G	A	6250583	2	1	88	1	0	0	0	0	0	0	0	1	7743	1194	42	2		2	IL33	9	6250583	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8838	6250583	134962848	9527	17239											
UHRF2	115426	broad.mit.edu	37	chr9	6477759	6477759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaatgtggcttatcatAtttactgtctgaatccacct	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6477759A>G	ENST00000276893.5	+	6	1279	c.1111A>G	c.(1111-1113)Att>Gtt	p.I371V		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	371					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GGCTTATCATATTTACTGTCT	0.393													False	0	True	9:6477759	0	G	6477759	A	G	6477759	3	3	88	1	0	0	0	0	1	0	0	0	17054	449	16	4	1133	4	UHRF2	9	6477759	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	227176	6477759	134735672	9528	17240											
GLDC	2731	broad.mit.edu	37	chr9	6592198	6592198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtccagatctttttcattgActgtttcatcaagagaaata	6	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6592198A>G	ENST00000321612.6	-	11	1577	c.1427T>C	c.(1426-1428)gTc>gCc	p.V476A		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	476					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTTTTCATTGACTGTTTCATC	0.378													False	0	False	9:6592198	0	G	6592198	A	G	6592198	3	3	88	1	0	0	0	0	1	0	0	0	6478	275	10	4	1695	4	GLDC	9	6592198	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	114439	6592198	134621233	9529	17241											
PTPRD	5789	broad.mit.edu	37	chr9	8340450	8340450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaagggcccctgggtagCgatgtaggctttctgttgtc	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8340450C>T	ENST00000381196.4	-	39	5689	c.5146G>A	c.(5146-5148)Gct>Act	p.A1716T	PTPRD_ENST00000537002.1_Missense_Mutation_p.A1306T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1309T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1694T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1716T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1703T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1310T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1306T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1309T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1716T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1716	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCTGGGTAGCGATGTAGGCT	0.443										TSP Lung(15;0.13)			False	0	False	9:8340450	0	T	8340450	C	T	8340450	3	4	88	1	0	0	0	0	1	0	0	0	12878	768	27	1	612	1	PTPRD	9	8340450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1748252	8340450	132872981	9530	17242											
PTPRD	5789	broad.mit.edu	37	chr9	8376626	8376626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccttgtaaagtgcaaatgttCgaacacaatatgtggccagc	9	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8376626C>T	ENST00000381196.4	-	35	5030	c.4487G>A	c.(4486-4488)cGa>cAa	p.R1496Q	PTPRD_ENST00000537002.1_Missense_Mutation_p.R1086Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1089Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1474Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1496Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1483Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1090Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1086Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1089Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1496Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1496	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCAAATGTTCGAACACAATA	0.418										TSP Lung(15;0.13)			False	0	False	9:8376626	0	T	8376626	C	T	8376626	3	4	88	1	0	0	0	0	1	0	0	0	12878	884	31	1	1287	1	PTPRD	9	8376626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36176	8376626	132836805	9531	17243											
PTPRD	5789	broad.mit.edu	37	chr9	8636735	8636735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgactttctttccttttttGttccagacaattttaggtct	5	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8636735G>A	ENST00000381196.4	-	10	717	c.174C>T	c.(172-174)aaC>aaT	p.N58N	PTPRD_ENST00000537002.1_Silent_p.N58N|PTPRD_ENST00000486161.1_Silent_p.N58N|PTPRD_ENST00000358503.5_Silent_p.N58N|PTPRD_ENST00000356435.5_Silent_p.N58N|PTPRD_ENST00000360074.4_Silent_p.N58N|PTPRD_ENST00000397617.3_Silent_p.N58N|PTPRD_ENST00000355233.5_Silent_p.N58N|PTPRD_ENST00000397611.3_Silent_p.N58N|PTPRD_ENST00000397606.3_Silent_p.N58N|PTPRD_ENST00000540109.1_Silent_p.N58N|PTPRD_ENST00000463477.1_Silent_p.N58N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	58	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCCTTTTTTGTTCCAGACAA	0.458										TSP Lung(15;0.13)			False	0	True	9:8636735	0	A	8636735	G	A	8636735	2	1	88	1	0	0	0	0	0	0	0	1	12878	1368	48	2		2	PTPRD	9	8636735	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260109	8636735	132576696	9532	17244											
PTPRD	5789	broad.mit.edu	37	chr9	8636839	8636839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgttcgtgtaaaccttgGaggtgctgaaataaaaaata	12	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8636839G>A	ENST00000381196.4	-	10	613	c.70C>T	c.(70-72)Cca>Tca	p.P24S	PTPRD_ENST00000537002.1_Missense_Mutation_p.P24S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P24S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P24S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P24S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P24S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P24S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P24S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P24S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P24S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P24S|PTPRD_ENST00000463477.1_Missense_Mutation_p.P24S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	24	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTAAACCTTGGAGGTGCTGAA	0.458										TSP Lung(15;0.13)			False	0	False	9:8636839	0	A	8636839	G	A	8636839	3	1	88	1	0	0	0	0	1	0	0	0	12878	1174	41	2	5872	2	PTPRD	9	8636839	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104	8636839	132576592	9533	17245											
TYRP1	7306	broad.mit.edu	37	chr9	12709023	12709023	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgccatagcagtagttggCgctttgttactggttgcact	11	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:12709023C>A	ENST00000388918.5	+	8	1584	c.1455C>A	c.(1453-1455)ggC>ggA	p.G485G	TYRP1_ENST00000381136.2_Silent_p.G195G|TYRP1_ENST00000473504.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Silent_p.G194G	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	485					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CAGTAGTTGGCGCTTTGTTAC	0.403									Oculocutaneous Albinism				False	0	False	9:12709023	0	A	12709023	C	A	12709023	2	1	88	1	0	0	0	0	0	0	0	1	16900	755	27	3		3	TYRP1	9	12709023	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4072184	12709023	128504408	9534	17246											
MPDZ	8777	broad.mit.edu	37	chr9	13125244	13125244	+	Translation_Start_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actccggttctggggagccaGactgtgggaccatcagagac	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13125244G>T	ENST00000541093.1	-	0	484				MPDZ_ENST00000546205.1_Missense_Mutation_p.S1607Y|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1560Y|MPDZ_ENST00000319217.7_Missense_Mutation_p.S1593Y|MPDZ_ENST00000381022.2_Missense_Mutation_p.S1593Y|MPDZ_ENST00000538841.1_Missense_Mutation_p.S452Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1593Y|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1593Y|MPDZ_ENST00000447879.1_Missense_Mutation_p.S1560Y			O75970	MPDZ_HUMAN	multiple PDZ domain protein						interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGGGGAGCCAGACTGTGGGAC	0.537													False	0	False	9:13125244	0	T	13125244	G	T	13125244	1	4	88	1	0	0	0	0	0	0	0	0	9789	942	33	3		3	MPDZ	9	13125244	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	416221	13125244	128088187	9535	17247											
MPDZ	8777	broad.mit.edu	37	chr9	13190142	13190142	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaaatgctaaaaccaagtcCtttgctccctttctccagct	4	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13190142C>A	ENST00000319217.7	-	16	2372	c.2125G>T	c.(2125-2127)Gga>Tga	p.G709*	MPDZ_ENST00000546205.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.G709*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.G709*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.G709*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.G709*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	709	PDZ 5.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AAACCAAGTCCTTTGCTCCCT	0.413													False	0	True	9:13190142	0	A	13190142	C	A	13190142	4	1	88	1	0	0	0	0	0	1	0	0	9789	690	24	3	4124	3	MPDZ	9	13190142	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64898	13190142	128023289	9536	17248											
MPDZ	8777	broad.mit.edu	37	chr9	13247772	13247772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcttggtttgcaagcgCtctgctgcatgcagggcccg	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13247772C>T	ENST00000319217.7	-	3	292	c.45G>A	c.(43-45)gaG>gaA	p.E15E	MPDZ_ENST00000546205.1_Silent_p.E15E|MPDZ_ENST00000536827.1_Silent_p.E15E|MPDZ_ENST00000381022.2_Silent_p.E15E|MPDZ_ENST00000381015.4_Silent_p.E15E|MPDZ_ENST00000541718.1_Silent_p.E15E|MPDZ_ENST00000447879.1_Silent_p.E15E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	15	L27.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTTGCAAGCGCTCTGCTGCAT	0.488													False	0	False	9:13247772	0	T	13247772	C	T	13247772	2	4	88	1	0	0	0	0	0	0	0	1	9789	796	28	2		2	MPDZ	9	13247772	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57630	13247772	127965659	9537	17249											
NFIB	4781	broad.mit.edu	37	chr9	14088266	14088266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtaattttggacattggccGgtaagatgggtgtcctattt	12	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14088266G>A	ENST00000397581.2	-	12	2650	c.1643C>T	c.(1642-1644)cCg>cTg	p.P548L	NFIB_ENST00000380959.3_3'UTR|NFIB_ENST00000380934.4_3'UTR|NFIB_ENST00000380953.1_3'UTR|NFIB_ENST00000543693.1_Missense_Mutation_p.P287L|NFIB_ENST00000397579.2_Missense_Mutation_p.P465L|NFIB_ENST00000397575.3_Missense_Mutation_p.P539L			O00712	NFIB_HUMAN	nuclear factor I/B	0					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GACATTGGCCGGTAAGATGGG	0.438			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								False	0	False	9:14088266	0	A	14088266	G	A	14088266	3	1	88	1	0	0	0	0	1	0	0	0	10439	1131	39	1		1	NFIB	9	14088266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	840494	14088266	127125165	9538	17250											
NFIB	4781	broad.mit.edu	37	chr9	14307409	14307409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatcctttgacattcgCttctcatgctttttaaagta	4	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14307409C>T	ENST00000380959.3	-	2	614	c.141G>A	c.(139-141)aaG>aaA	p.K47K	NFIB_ENST00000380921.3_Silent_p.K47K|NFIB_ENST00000397581.2_Silent_p.K47K|NFIB_ENST00000380934.4_Silent_p.K73K|NFIB_ENST00000380953.1_Silent_p.K47K|NFIB_ENST00000397579.2_Silent_p.K47K|NFIB_ENST00000397575.3_Silent_p.K47K	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	47					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TTGACATTCGCTTCTCATGCT	0.458			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								False	0	False	9:14307409	0	T	14307409	C	T	14307409	2	4	88	1	0	0	0	0	0	0	0	1	10439	796	28	2		2	NFIB	9	14307409	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219143	14307409	126906022	9539	17251											
CER1	9350	broad.mit.edu	37	chr9	14720268	14720268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaacttggcaggcaaacaGtgagagcaggaggtatggga	17	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14720268G>A	ENST00000380911.3	-	2	668	c.624C>T	c.(622-624)caC>caT	p.H208H		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	208	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CAGGCAAACAGTGAGAGCAGG	0.522													False	0	False	9:14720268	0	A	14720268	G	A	14720268	2	1	88	1	0	0	0	0	0	0	0	1	3288	1020	36	2		2	CER1	9	14720268	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	412859	14720268	126493163	9540	17252											
CER1	9350	broad.mit.edu	37	chr9	14720322	14720322	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggaaaatgaacagacccGcatttcccaaagcaaaggtt	8	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14720322G>A	ENST00000380911.3	-	2	614	c.570C>T	c.(568-570)tgC>tgT	p.C190C		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	190	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GAACAGACCCGCATTTCCCAA	0.458													False	0	True	9:14720322	0	A	14720322	G	A	14720322	2	1	88	1	0	0	0	0	0	0	0	1	3288	1079	38	1		1	CER1	9	14720322	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	14720322	126493109	9541	17253											
FREM1	158326	broad.mit.edu	37	chr9	14747318	14747318	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttatctgcttgaggcagttCtgccactttgattgtctttt	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14747318C>A	ENST00000380881.4	-	34	6771	c.5956G>T	c.(5956-5958)Gaa>Taa	p.E1986*	FREM1_ENST00000380880.3_Nonsense_Mutation_p.E1985*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.E521*|FREM1_ENST00000422223.2_Nonsense_Mutation_p.E1985*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1985					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGAGGCAGTTCTGCCACTTTG	0.423													False	0	False	9:14747318	0	A	14747318	C	A	14747318	4	1	88	1	0	0	0	0	0	1	0	0	6086	922	32	3	606	3	FREM1	9	14747318	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26996	14747318	126466113	9542	17254											
FREM1	158326	broad.mit.edu	37	chr9	14819312	14819312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattcagctccacccttccGtgcagaggcaattcccgcag	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14819312G>A	ENST00000380881.4	-	15	3284	c.2469C>T	c.(2467-2469)caC>caT	p.H823H	FREM1_ENST00000380880.3_Silent_p.H822H|FREM1_ENST00000422223.2_Silent_p.H822H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	822					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCACCCTTCCGTGCAGAGGCA	0.458													False	0	False	9:14819312	0	A	14819312	G	A	14819312	2	1	88	1	0	0	0	0	0	0	0	1	6086	1136	40	1		1	FREM1	9	14819312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71994	14819312	126394119	9543	17255											
FREM1	158326	broad.mit.edu	37	chr9	14841558	14841558	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatgattccattaaacaaatCcctctgaaggaagccatgga	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14841558C>A	ENST00000380881.4	-	11	2586	c.1771G>T	c.(1771-1773)Gat>Tat	p.D591Y	FREM1_ENST00000380880.3_Missense_Mutation_p.D590Y|FREM1_ENST00000422223.2_Missense_Mutation_p.D590Y			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	590					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTAAACAAATCCCTCTGAAGG	0.388													False	0	True	9:14841558	0	A	14841558	C	A	14841558	3	1	88	1	0	0	0	0	1	0	0	0	6086	855	30	3	4933	3	FREM1	9	14841558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22246	14841558	126371873	9544	17256											
FREM1	158326	broad.mit.edu	37	chr9	14842621	14842621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatagcgaacaactccagcCtggaggtcagccacggtgaa	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14842621C>A	ENST00000380881.4	-	10	2249	c.1434G>T	c.(1432-1434)caG>caT	p.Q478H	FREM1_ENST00000380880.3_Missense_Mutation_p.Q477H|FREM1_ENST00000422223.2_Missense_Mutation_p.Q477H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	477					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAACTCCAGCCTGGAGGTCAG	0.542													False	0	False	9:14842621	0	A	14842621	C	A	14842621	3	1	88	1	0	0	0	0	1	0	0	0	6086	680	24	3	5274	3	FREM1	9	14842621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1063	14842621	126370810	9545	17257											
FREM1	158326	broad.mit.edu	37	chr9	14851350	14851350	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatctgcatgtcactgagatCtttccaggtgaatgaggaga	12	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14851350C>A	ENST00000380881.4	-	7	1902	c.1087G>T	c.(1087-1089)Gat>Tat	p.D363Y	FREM1_ENST00000380880.3_Missense_Mutation_p.D362Y|FREM1_ENST00000422223.2_Missense_Mutation_p.D362Y			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	362					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCACTGAGATCTTTCCAGGTG	0.493													False	0	True	9:14851350	0	A	14851350	C	A	14851350	3	1	88	1	0	0	0	0	1	0	0	0	6086	913	32	3	5633	3	FREM1	9	14851350	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8729	14851350	126362081	9546	17258											
SNAPC3	6619	broad.mit.edu	37	chr9	15422996	15422996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcccgagctaaatacgcGcgctttccatgtgggcgcct	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:15422996G>A	ENST00000380821.3	+	1	295	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	40					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		CTAAATACGCGCGCTTTCCAT	0.687													False	0	True	9:15422996	0	A	15422996	G	A	15422996	3	1	88	1	0	0	0	0	1	0	0	0	14916	1087	38	1	121	1	SNAPC3	9	15422996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	571646	15422996	125790435	9547	17259											
BNC2	54796	broad.mit.edu	37	chr9	16436735	16436735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgcactgtggcgattaCgacttcggagggagctaaag	15	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16436735C>T	ENST00000380672.4	-	6	1514	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	BNC2_ENST00000380667.2_Missense_Mutation_p.R419H|BNC2_ENST00000545497.1_Missense_Mutation_p.R391H|BNC2_ENST00000380666.2_Missense_Mutation_p.R486H	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGGCGATTACGACTTCGGAG	0.463													False	0	False	9:16436735	0	T	16436735	C	T	16436735	3	4	88	1	0	0	0	0	1	0	0	0	1480	536	19	1	1850	1	BNC2	9	16436735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1013739	16436735	124776696	9548	17260											
BNC2	54796	broad.mit.edu	37	chr9	16436949	16436949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgggtgttcagttttggTtagatcactgactggggcag	14	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16436949T>C	ENST00000380672.4	-	6	1300	c.1243A>G	c.(1243-1245)Acc>Gcc	p.T415A	BNC2_ENST00000380667.2_Missense_Mutation_p.T348A|BNC2_ENST00000545497.1_Missense_Mutation_p.T320A|BNC2_ENST00000380666.2_Missense_Mutation_p.T415A	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCAGTTTTGGTTAGATCACTG	0.483													False	0	False	9:16436949	0	C	16436949	T	C	16436949	3	2	88	1	0	0	0	0	1	0	0	0	1480	1725	60	4	2064	4	BNC2	9	16436949	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	214	16436949	124776482	9549	17261											
BNC2	54796	broad.mit.edu	37	chr9	16437072	16437072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcattcttataaggtgTgggagaaacttcggattcgc	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16437072T>C	ENST00000380672.4	-	6	1177	c.1120A>G	c.(1120-1122)Aca>Gca	p.T374A	BNC2_ENST00000380667.2_Missense_Mutation_p.T307A|BNC2_ENST00000545497.1_Missense_Mutation_p.T279A|BNC2_ENST00000380666.2_Missense_Mutation_p.T374A	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTATAAGGTGTGGGAGAAACT	0.473													False	0	True	9:16437072	0	C	16437072	T	C	16437072	3	2	88	1	0	0	0	0	1	0	0	0	1480	1696	59	4	2187	4	BNC2	9	16437072	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	123	16437072	124776359	9550	17262											
CNTLN	54875	broad.mit.edu	37	chr9	17298326	17298326	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcaggaagatgttcacacAgctgaaagtatatcatatca	7	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17298326A>G	ENST00000380647.3	+	7	1206	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	CNTLN_ENST00000380641.4_Silent_p.T374T|CNTLN_ENST00000262360.5_Silent_p.T374T|CNTLN_ENST00000425824.1_Silent_p.T374T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	374						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATGTTCACACAGCTGAAAGTA	0.333													False	0	True	9:17298326	0	G	17298326	A	G	17298326	2	3	88	1	0	0	0	0	0	0	0	1	3662	175	7	4		4	CNTLN	9	17298326	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	861254	17298326	123915105	9551	17263											
CNTLN	54875	broad.mit.edu	37	chr9	17330786	17330786	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgaaagagcatcatgacaAgtgctgaaggaaaacataag	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17330786A>C	ENST00000380647.3	+	9	1582	c.1498A>C	c.(1498-1500)Agt>Cgt	p.S500R	CNTLN_ENST00000262360.5_Missense_Mutation_p.S500R|CNTLN_ENST00000425824.1_Missense_Mutation_p.S500R			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	500						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CATCATGACAAGTGCTGAAGG	0.373													False	0	False	9:17330786	0	C	17330786	A	C	17330786	3	2	88	1	0	0	0	0	1	0	0	0	3662	72	3	4	1562	4	CNTLN	9	17330786	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32460	17330786	123882645	9552	17264											
CNTLN	54875	broad.mit.edu	37	chr9	17340942	17340942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacagtgggaagaaggcagtGgcatgtgagttacatagctc	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17340942G>T	ENST00000380647.3	+	11	1846	c.1762G>T	c.(1762-1764)Ggc>Tgc	p.G588C	CNTLN_ENST00000262360.5_Missense_Mutation_p.G588C|CNTLN_ENST00000425824.1_Missense_Mutation_p.G588C			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	588						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGAAGGCAGTGGCATGTGAGT	0.388													False	0	False	9:17340942	0	T	17340942	G	T	17340942	3	4	88	1	0	0	0	0	1	0	0	0	3662	1348	47	3	1834	3	CNTLN	9	17340942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10156	17340942	123872489	9553	17265											
CNTLN	54875	broad.mit.edu	37	chr9	17394704	17394704	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagataataaaggggagtaAagatgtagaaaaagaaaata	10	1	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17394704A>C	ENST00000380647.3	+	15	2336	c.2252A>C	c.(2251-2253)aAa>aCa	p.K751T	CNTLN_ENST00000262360.5_Missense_Mutation_p.K751T|CNTLN_ENST00000425824.1_Missense_Mutation_p.K751T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	751						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGGGGAGTAAAGATGTAGAA	0.363													False	0	True	9:17394704	0	C	17394704	A	C	17394704	3	2	88	1	0	0	0	0	1	0	0	0	3662	14	1	4	2340	4	CNTLN	9	17394704	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53762	17394704	123818727	9554	17266											
CNTLN	54875	broad.mit.edu	37	chr9	17409382	17409383	+	In_Frame_Ins	INS	-	-	AAATAATATTTT													tacggaagatggaaaagaccINSagaaagaaagtgatccaaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17409382_17409383insAAATAATATTTT	ENST00000380647.3	+	16	2791_2792	c.2707_2708insAAATAATATTTT	c.(2707-2709)cag>cAAATAATATTTTag	p.903_904insIIF*	CNTLN_ENST00000425824.1_In_Frame_Ins_p.903_904insIIF*|CNTLN_ENST00000262360.5_In_Frame_Ins_p.903_904insIIF*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	903						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TGGAAAAGACCAGAAAGAAAGT	0.371													False	0	True	9:17409382	0	AAATAATATTTT	17409383	-	AAATAATATTTT	17409382	7	5	88	1	0	1	1	0	0	0	0	0	3662	595	21	0	2799	0	CNTLN	9	17409382	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	14678	17409382	123804049	9555	17267											
CNTLN	54875	broad.mit.edu	37	chr9	17466758	17466758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgagactgaatctgcaatgGcagaaattgaaacagcagca	11	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17466758G>T	ENST00000380647.3	+	23	3808	c.3724G>T	c.(3724-3726)Gca>Tca	p.A1242S	CNTLN_ENST00000262360.5_Missense_Mutation_p.A1242S|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1242S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1242						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATCTGCAATGGCAGAAATTGA	0.378													False	0	False	9:17466758	0	T	17466758	G	T	17466758	3	4	88	1	0	0	0	0	1	0	0	0	3662	1203	42	3	3844	3	CNTLN	9	17466758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57376	17466758	123746673	9556	17268											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18622252	18622252	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgttagattgttggctgCgatcaccagctgggaagcac	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18622252C>T	ENST00000380548.4	+	5	825	c.486C>T	c.(484-486)tgC>tgT	p.C162C	ADAMTSL1_ENST00000380570.4_Silent_p.C162C|ADAMTSL1_ENST00000380566.4_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C|ADAMTSL1_ENST00000276935.6_Silent_p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	162						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGTTGGCTGCGATCACCAGC	0.512													False	0	False	9:18622252	0	T	18622252	C	T	18622252	2	4	88	1	0	0	0	0	0	0	0	1	274	776	27	1		1	ADAMTSL1	9	18622252	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1155494	18622252	122591179	9557	17269											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18681875	18681875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatcgaccatcgaggaatGcacacaggaggctgtagccc	12	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18681875G>A	ENST00000380548.4	+	12	1746	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.M469I|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.M469I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	469	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATCGAGGAATGCACACAGGAG	0.517													False	0	True	9:18681875	0	A	18681875	G	A	18681875	3	1	88	1	0	0	0	0	1	0	0	0	274	1319	46	2	1453	2	ADAMTSL1	9	18681875	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59623	18681875	122531556	9558	17270											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18721548	18721548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacaggtgtccaggaggctGtggtgagctgcttgaacaaa	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18721548G>A	ENST00000380548.4	+	15	2230	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.V631M	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	631	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCAGGAGGCTGTGGTGAGCTG	0.587													False	0	False	9:18721548	0	A	18721548	G	A	18721548	3	1	88	1	0	0	0	0	1	0	0	0	274	1377	48	2	1953	2	ADAMTSL1	9	18721548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39673	18721548	122491883	9559	17271											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777494	18777494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaacctctcccagcagccCgaggagctgcgcgacctcta	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18777494C>T	ENST00000380548.4	+	19	3606	c.3267C>T	c.(3265-3267)ccC>ccT	p.P1089P		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1089						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCAGCAGCCCGAGGAGCTGC	0.667													False	0	True	9:18777494	0	T	18777494	C	T	18777494	2	4	88	1	0	0	0	0	0	0	0	1	274	639	23	1		1	ADAMTSL1	9	18777494	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55946	18777494	122435937	9560	17272											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18892409	18892409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggtgacctcctggtctGcctgtacccggagctgtggg	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18892409G>A	ENST00000380548.4	+	26	5005	c.4666G>A	c.(4666-4668)Gcc>Acc	p.A1556T	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A257T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1556	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCCTGGTCTGCCTGTACCCG	0.602													False	0	False	9:18892409	0	A	18892409	G	A	18892409	3	1	88	1	0	0	0	0	1	0	0	0	274	1319	46	2	4772	2	ADAMTSL1	9	18892409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114915	18892409	122321022	9561	17273											
FAM154A	158297	broad.mit.edu	37	chr9	18928781	18928781	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaggctttcaaaggggaTttcacagggcctgaacttct	12	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18928781T>G	ENST00000380534.4	-	4	973	c.694A>C	c.(694-696)Atc>Ctc	p.I232L	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.I40L	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	232										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCAAAGGGGATTTCACAGGGC	0.542													False	0	True	9:18928781	0	G	18928781	T	G	18928781	3	3	88	1	0	0	0	0	1	0	0	0	5499	1493	52	4	734	4	FAM154A	9	18928781	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	36372	18928781	122284650	9562	17274											
RRAGA	10670	broad.mit.edu	37	chr9	19050016	19050016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagaactctcctgacgCcaaaatcttctgcctggtgc	7	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19050016C>T	ENST00000380527.1	+	1	645	c.359C>T	c.(358-360)gCc>gTc	p.A120V		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	120					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						TCTCCTGACGCCAAAATCTTC	0.502													False	0	False	9:19050016	0	T	19050016	C	T	19050016	3	4	88	1	0	0	0	0	1	0	0	0	13751	739	26	2	361	2	RRAGA	9	19050016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121235	19050016	122163415	9563	17275											
RRAGA	10670	broad.mit.edu	37	chr9	19050182	19050182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctacaaagcctggtccagCatcgtctaccagctgattcc	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19050182C>A	ENST00000380527.1	+	1	811	c.525C>A	c.(523-525)agC>agA	p.S175R		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	175					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						CCTGGTCCAGCATCGTCTACC	0.527													False	0	False	9:19050182	0	A	19050182	C	A	19050182	3	1	88	1	0	0	0	0	1	0	0	0	13751	709	25	3	527	3	RRAGA	9	19050182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166	19050182	122163249	9564	17276											
HAUS6	54801	broad.mit.edu	37	chr9	19089409	19089409	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactatcaaggtactacttaCtgtgcattttcctgatattt	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19089409C>A	ENST00000380502.3	-	5	1052		c.e5+1		HAUS6_ENST00000380496.1_Splice_Site	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTACTACTTACTGTGCATTTT	0.348													False	0	True	9:19089409	0	A	19089409	C	A	19089409	5	1	88	1	0	0	0	0	0	0	1	0	7017	579	20	3	2334	3	HAUS6	9	19089409	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39227	19089409	122124022	9565	17277											
DENND4C	55667	broad.mit.edu	37	chr9	19346246	19346246	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcacctacctgatagtaGgacttgtatgtctgaaagca	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19346246G>T	ENST00000380432.2	+	18	2657	c.2624G>T	c.(2623-2625)aGg>aTg	p.R875M	DENND4C_ENST00000602925.1_Missense_Mutation_p.R1111M|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1160M			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	875						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCTGATAGTAGGACTTGTATG	0.448													False	0	False	9:19346246	0	T	19346246	G	T	19346246	3	4	88	1	0	0	0	0	1	0	0	0	4465	1000	35	3	2694	3	DENND4C	9	19346246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256837	19346246	121867185	9566	17278											
RPS6	6194	broad.mit.edu	37	chr9	19378800	19378800	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttctccagttctccttggTctgtaacaggaatgcccctt	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19378800T>C	ENST00000380394.4	-	3	313	c.255A>G	c.(253-255)agA>agG	p.R85R	RPS6_ENST00000315377.4_Silent_p.R54R|RPS6_ENST00000380384.1_Silent_p.R54R|RPS6_ENST00000380381.3_3'UTR	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	85					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		TTCTCCTTGGTCTGTAACAGG	0.478													False	0	False	9:19378800	0	C	19378800	T	C	19378800	2	2	88	1	0	0	0	0	0	0	0	1	13728	1664	58	4		4	RPS6	9	19378800	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32554	19378800	121834631	9567	17279											
SLC24A2	25769	broad.mit.edu	37	chr9	19786640	19786640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccctgtgctaccctaggGccacttacaacactggcctc	7	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19786640G>A	ENST00000341998.2	-	1	286	c.225C>T	c.(223-225)ggC>ggT	p.G75G	SLC24A2_ENST00000286344.3_Silent_p.G75G	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	75					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTACCCTAGGGCCACTTACAA	0.453													False	0	True	9:19786640	0	A	19786640	G	A	19786640	2	1	88	1	0	0	0	0	0	0	0	1	14546	1190	42	2		2	SLC24A2	9	19786640	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407840	19786640	121426791	9568	17280											
IFNA10	3446	broad.mit.edu	37	chr9	21206625	21206625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcacaagggctgtattTcctctctattagataaagag	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21206625T>C	ENST00000357374.2	-	1	517	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	158					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		GGGCTGTATTTCCTCTCTATT	0.443													False	0	True	9:21206625	0	C	21206625	T	C	21206625	3	2	88	1	0	0	0	0	1	0	0	0	7582	1792	62	4	101	4	IFNA10	9	21206625	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1419985	21206625	120006806	9569	17281											
IFNA16	3449	broad.mit.edu	37	chr9	21217213	21217213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccctcctattacccaggCtgtgagtctgaggcagatca	11	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21217213C>T	ENST00000380216.1	-	1	97	c.92G>A	c.(91-93)aGc>aAc	p.S31N		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	31					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATTACCCAGGCTGTGAGTCTG	0.507													False	0	False	9:21217213	0	T	21217213	C	T	21217213	3	4	88	1	0	0	0	0	1	0	0	0	7585	797	28	2	481	2	IFNA16	9	21217213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10588	21217213	119996218	9570	17282											
KLHL9	55958	broad.mit.edu	37	chr9	21333707	21333707	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgcgcttttcatttaaTgatgcaacctgcatccattt	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21333707T>G	ENST00000359039.4	-	1	1672	c.1152A>C	c.(1150-1152)tcA>tcC	p.S384S	KLHL9_ENST00000537938.1_Silent_p.S316S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	384					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTTCATTTAATGATGCAACCT	0.413													False	0	False	9:21333707	0	G	21333707	T	G	21333707	2	3	88	1	0	0	0	0	0	0	0	1	8446	1451	51	4		4	KLHL9	9	21333707	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	116494	21333707	119879724	9571	17283											
KLHL9	55958	broad.mit.edu	37	chr9	21334090	21334090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgttctcatgaaatctaCtgtctgcacgtaattgatga	8	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21334090C>T	ENST00000359039.4	-	1	1289	c.769G>A	c.(769-771)Gta>Ata	p.V257I	KLHL9_ENST00000537938.1_Missense_Mutation_p.V189I			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	257					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATGAAATCTACTGTCTGCACG	0.413													False	0	False	9:21334090	0	T	21334090	C	T	21334090	3	4	88	1	0	0	0	0	1	0	0	0	8446	565	20	2	1088	2	KLHL9	9	21334090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	383	21334090	119879341	9572	17284											
ELAVL2	1993	broad.mit.edu	37	chr9	23692688	23692688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaaatccaaaacctttgCatttattggtgttaaagtca	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23692688C>T	ENST00000397312.2	-	7	1221	c.947G>A	c.(946-948)tGc>tAc	p.C316Y	ELAVL2_ENST00000223951.6_Missense_Mutation_p.C303Y|ELAVL2_ENST00000380117.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C316Y|ELAVL2_ENST00000380110.4_Missense_Mutation_p.C346Y	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	316	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AAAACCTTTGCATTTATTGGT	0.478													False	0	False	9:23692688	0	T	23692688	C	T	23692688	3	4	88	1	0	0	0	0	1	0	0	0	5082	710	25	2	136	2	ELAVL2	9	23692688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2358598	23692688	117520743	9573	17285											
ELAVL2	1993	broad.mit.edu	37	chr9	23701384	23701384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccagacttacctaaaacGctgtgcctgctgagctagcg	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23701384G>A	ENST00000397312.2	-	5	980	c.706C>T	c.(706-708)Cgt>Tgt	p.R236C	ELAVL2_ENST00000223951.6_Missense_Mutation_p.R236C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R236C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R265C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	236					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.R236G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACCTAAAACGCTGTGCCTGC	0.458													False	0	False	9:23701384	0	A	23701384	G	A	23701384	3	1	88	1	0	0	0	0	1	0	0	0	5082	1087	38	1	385	1	ELAVL2	9	23701384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8696	23701384	117512047	9574	17286											
ELAVL2	1993	broad.mit.edu	37	chr9	23705055	23705055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatagaagctgaacttggGcgagcataggaaacctggaa	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23705055G>A	ENST00000397312.2	-	4	622	c.348C>T	c.(346-348)cgC>cgT	p.R116R	ELAVL2_ENST00000223951.6_Silent_p.R116R|ELAVL2_ENST00000380117.1_Silent_p.R116R|ELAVL2_ENST00000544538.1_Silent_p.R116R|ELAVL2_ENST00000380110.4_Silent_p.R145R	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	116	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTGAACTTGGGCGAGCATAGG	0.398													False	0	True	9:23705055	0	A	23705055	G	A	23705055	2	1	88	1	0	0	0	0	0	0	0	1	5082	1190	42	2		2	ELAVL2	9	23705055	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3671	23705055	117508376	9575	17287											
ELAVL2	1993	broad.mit.edu	37	chr9	23765066	23765066	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagaagccacatcacacaGtctgactgccatgttagttt	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23765066G>A	ENST00000380110.4	-	2	80	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	ELAVL2_ENST00000223951.6_Intron|ELAVL2_ENST00000397312.2_Intron|ELAVL2_ENST00000380117.1_Intron|ELAVL2_ENST00000544538.1_Intron|ELAVL2_ENST00000462649.1_5'UTR			Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	0					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ACATCACACAGTCTGACTGCC	0.433													False	0	True	9:23765066	0	A	23765066	G	A	23765066	2	1	88	1	0	0	0	0	0	0	0	1	5082	1044	36	2		2	ELAVL2	9	23765066	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60011	23765066	117448365	9576	17288											
PLAA	9373	broad.mit.edu	37	chr9	26905793	26905793	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttcagggccaatgtagccaGagcaatgtgaatgttcttat	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26905793G>A	ENST00000397292.3	-	14	2521	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	702	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AATGTAGCCAGAGCAATGTGA	0.418													False	0	False	9:26905793	0	A	26905793	G	A	26905793	2	1	88	1	0	0	0	0	0	0	0	1	12080	933	33	2		2	PLAA	9	26905793	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3140727	26905793	114307638	9577	17289											
PLAA	9373	broad.mit.edu	37	chr9	26910348	26910348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacttacctaatatttgtgTagggtttgcttggtcaaatg	9	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26910348T>C	ENST00000397292.3	-	12	2062	c.1645A>G	c.(1645-1647)Aca>Gca	p.T549A	PLAA_ENST00000520884.1_Missense_Mutation_p.T549A	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	549	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AATATTTGTGTAGGGTTTGCT	0.343													False	0	False	9:26910348	0	C	26910348	T	C	26910348	3	2	88	1	0	0	0	0	1	0	0	0	12080	1638	57	4	754	4	PLAA	9	26910348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4555	26910348	114303083	9578	17290											
IFT74	80173	broad.mit.edu	37	chr9	26978214	26978214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatcaaagttgcccatcGccctgtaacacaacaaggtt	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26978214G>A	ENST00000443698.1	+	3	380	c.209G>A	c.(208-210)cGc>cAc	p.R70H	IFT74_ENST00000380062.5_Missense_Mutation_p.R70H|IFT74_ENST00000429045.2_Missense_Mutation_p.R70H|IFT74_ENST00000433700.1_Missense_Mutation_p.R70H	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	70						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GTTGCCCATCGCCCTGTAACA	0.438													False	0	True	9:26978214	0	A	26978214	G	A	26978214	3	1	88	1	0	0	0	0	1	0	0	0	7613	1087	38	1	215	1	IFT74	9	26978214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67866	26978214	114235217	9579	17291											
TEK	7010	broad.mit.edu	37	chr9	27190608	27190608	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caacatcagctctgagccttActttggggatggaccaatca	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27190608A>G	ENST00000380036.4	+	10	1851	c.1409A>G	c.(1408-1410)tAc>tGc	p.Y470C	TEK_ENST00000406359.4_Missense_Mutation_p.Y427C|TEK_ENST00000519097.1_Missense_Mutation_p.Y323C	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	470	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTGAGCCTTACTTTGGGGAT	0.423													False	0	False	9:27190608	0	G	27190608	A	G	27190608	3	3	88	1	0	0	0	0	1	0	0	0	15833	391	14	4	1447	4	TEK	9	27190608	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	212394	27190608	114022823	9580	17292											
TEK	7010	broad.mit.edu	37	chr9	27197484	27197484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agttccaggcaacttgacttCggtgctacttaacaacttac	7	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27197484C>T	ENST00000380036.4	+	12	2238	c.1796C>T	c.(1795-1797)tCg>tTg	p.S599L	TEK_ENST00000406359.4_Missense_Mutation_p.S556L|TEK_ENST00000519097.1_Missense_Mutation_p.S452L	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	599	Fibronectin type-III 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AACTTGACTTCGGTGCTACTT	0.463													False	0	False	9:27197484	0	T	27197484	C	T	27197484	3	4	88	1	0	0	0	0	1	0	0	0	15833	893	31	1	1842	1	TEK	9	27197484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6876	27197484	114015947	9581	17293											
TEK	7010	broad.mit.edu	37	chr9	27204926	27204926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccagcggacctcggaGgggggaagatgctgcttata	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27204926G>A	ENST00000380036.4	+	14	2669	c.2227G>A	c.(2227-2229)Ggg>Agg	p.G743R	TEK_ENST00000406359.4_Missense_Mutation_p.G700R|TEK_ENST00000519097.1_Missense_Mutation_p.G596R	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	743					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGACCTCGGAGGGGGGAAGAT	0.507													False	0	True	9:27204926	0	A	27204926	G	A	27204926	3	1	88	1	0	0	0	0	1	0	0	0	15833	1000	35	2	2281	2	TEK	9	27204926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7442	27204926	114008505	9582	17294											
IFNK	56832	broad.mit.edu	37	chr9	27524894	27524894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtgcctgggagattgtccGagtggaaatcagaagatgtt	14	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27524894G>A	ENST00000276943.2	+	1	583	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	187					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		GAGATTGTCCGAGTGGAAATC	0.398													False	0	False	9:27524894	0	A	27524894	G	A	27524894	3	1	88	1	0	0	0	0	1	0	0	0	7601	1058	37	1	562	1	IFNK	9	27524894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	319968	27524894	113688537	9583	17295											
LINGO2	158038	broad.mit.edu	37	chr9	27950337	27950337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttagacgattgccttttagGcggagggaacgcaggttaaa	13	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27950337G>A	ENST00000379992.2	-	6	782	c.333C>T	c.(331-333)cgC>cgT	p.R111R	LINGO2_ENST00000308675.3_Silent_p.R111R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	111						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGCCTTTTAGGCGGAGGGAAC	0.438													False	0	False	9:27950337	0	A	27950337	G	A	27950337	2	1	88	1	0	0	0	0	0	0	0	1	8868	1190	42	2		2	LINGO2	9	27950337	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	425443	27950337	113263094	9584	17296											
ACO1	48	broad.mit.edu	37	chr9	32418495	32418495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccatgattgatggcttggGcattcttggttggggtgagt	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32418495G>A	ENST00000309951.6	+	6	782	c.644G>A	c.(643-645)gGc>gAc	p.G215D	ACO1_ENST00000379923.1_Missense_Mutation_p.G215D|ACO1_ENST00000541043.1_Missense_Mutation_p.G116D	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GATGGCTTGGGCATTCTTGGT	0.418													False	0	True	9:32418495	0	A	32418495	G	A	32418495	3	1	88	1	0	0	0	0	1	0	0	0	146	1203	42	2	662	2	ACO1	9	32418495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4468158	32418495	108794936	9585	17297											
DDX58	23586	broad.mit.edu	37	chr9	32488121	32488121	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaatctgtggagttaaaAtgatgatgtcattgttctca	9	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32488121A>G	ENST00000379882.1	-	7	1056	c.899T>C	c.(898-900)aTt>aCt	p.I300T	DDX58_ENST00000379868.1_Missense_Mutation_p.I142T|DDX58_ENST00000545044.1_Missense_Mutation_p.I142T|DDX58_ENST00000542096.1_Missense_Mutation_p.I274T|DDX58_ENST00000379883.2_Missense_Mutation_p.I345T			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	345	Helicase ATP-binding.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGGAGTTAAAATGATGATGTC	0.383													False	0	True	9:32488121	0	G	32488121	A	G	32488121	3	3	88	1	0	0	0	0	1	0	0	0	4400	101	4	4	1787	4	DDX58	9	32488121	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69626	32488121	108725310	9586	17298											
TOPORS	10210	broad.mit.edu	37	chr9	32541482	32541482	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgaagagacacaatgTtactgggctggttctccaaa	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32541482T>G	ENST00000360538.2	-	3	3157	c.3041A>C	c.(3040-3042)aAc>aCc	p.N1014T	TOPORS_ENST00000379858.1_Missense_Mutation_p.N949T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1014					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGACACAATGTTACTGGGCTG	0.423													False	0	False	9:32541482	0	G	32541482	T	G	32541482	3	3	88	1	0	0	0	0	1	0	0	0	16453	1725	60	4	100	4	TOPORS	9	32541482	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	53361	32541482	108671949	9587	17299											
TOPORS	10210	broad.mit.edu	37	chr9	32542990	32542990	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttcttgtgtcttcactgtCtccattttctcataagaacc	5	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32542990C>T	ENST00000360538.2	-	3	1649	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	TOPORS_ENST00000379858.1_Silent_p.E446E	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	511	Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCTTCACTGTCTCCATTTTCT	0.433													False	0	False	9:32542990	0	T	32542990	C	T	32542990	2	4	88	1	0	0	0	0	0	0	0	1	16453	912	32	2		2	TOPORS	9	32542990	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1508	32542990	108670441	9588	17300											
TOPORS	10210	broad.mit.edu	37	chr9	32543588	32543588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggacaatattcactaaagatCcatgagctccaaaaagaact	6	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32543588C>A	ENST00000360538.2	-	3	1051	c.935G>T	c.(934-936)gGa>gTa	p.G312V	TOPORS_ENST00000379858.1_Missense_Mutation_p.G247V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	312	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CACTAAAGATCCATGAGCTCC	0.378													False	0	False	9:32543588	0	A	32543588	C	A	32543588	3	1	88	1	0	0	0	0	1	0	0	0	16453	855	30	3	2206	3	TOPORS	9	32543588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	598	32543588	108669843	9589	17301											
TOPORS	10210	broad.mit.edu	37	chr9	32544209	32544209	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaatctatccaagcatAtaggacacttagaatcagga	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32544209A>G	ENST00000360538.2	-	3	430	c.314T>C	c.(313-315)aTa>aCa	p.I105T	TOPORS_ENST00000379858.1_Missense_Mutation_p.I40T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	105	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATCCAAGCATATAGGACACTT	0.393													False	0	False	9:32544209	0	G	32544209	A	G	32544209	3	3	88	1	0	0	0	0	1	0	0	0	16453	449	16	4	2827	4	TOPORS	9	32544209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	621	32544209	108669222	9590	17302											
TAF1L	138474	broad.mit.edu	37	chr9	32632632	32632632	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttggaatcttcacataggaGaatccttcaccacaccctgt	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32632632G>T	ENST00000242310.4	-	1	3035	c.2946C>A	c.(2944-2946)ttC>ttA	p.F982L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	982					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCACATAGGAGAATCCTTCAC	0.507													False	0	False	9:32632632	0	T	32632632	G	T	32632632	3	4	88	1	0	0	0	0	1	0	0	0	15605	933	33	3	2538	3	TAF1L	9	32632632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88423	32632632	108580799	9591	17303											
TAF1L	138474	broad.mit.edu	37	chr9	32633981	32633981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcctcttccttctcatcagGaatttccaaaatgaggttct	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32633981G>A	ENST00000242310.4	-	1	1686	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	533					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCTCATCAGGAATTTCCAAA	0.483													False	0	False	9:32633981	0	A	32633981	G	A	32633981	3	1	88	1	0	0	0	0	1	0	0	0	15605	1174	41	2	3887	2	TAF1L	9	32633981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1349	32633981	108579450	9592	17304											
TAF1L	138474	broad.mit.edu	37	chr9	32634136	32634136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatggagtaccaaggtTtgtcatcatccagagtgggt	12	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32634136T>C	ENST00000242310.4	-	1	1531	c.1442A>G	c.(1441-1443)aAa>aGa	p.K481R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	481					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTACCAAGGTTTGTCATCATC	0.493													False	0	True	9:32634136	0	C	32634136	T	C	32634136	3	2	88	1	0	0	0	0	1	0	0	0	15605	1841	64	4	4042	4	TAF1L	9	32634136	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	155	32634136	108579295	9593	17305											
TMEM215	401498	broad.mit.edu	37	chr9	32784835	32784835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcccgtatgacagataCtgttgttatatcaatcagat	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32784835C>T	ENST00000342743.5	+	2	1019	c.654C>T	c.(652-654)taC>taT	p.Y218Y		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	218						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ATGACAGATACTGTTGTTATA	0.478													False	0	False	9:32784835	0	T	32784835	C	T	32784835	2	4	88	1	0	0	0	0	0	0	0	1	16220	576	20	2		2	TMEM215	9	32784835	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150699	32784835	108428596	9594	17306											
APTX	54840	broad.mit.edu	37	chr9	32987600	32987600	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagcattggccagagttgCtcccaggttccagccctgtc	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32987600C>A	ENST00000379817.2	-	3	621	c.425G>T	c.(424-426)aGc>aTc	p.S142I	APTX_ENST00000436040.2_Missense_Mutation_p.S142I|APTX_ENST00000309615.3_Missense_Mutation_p.S156I|APTX_ENST00000463596.1_Missense_Mutation_p.S142I|APTX_ENST00000379813.3_Missense_Mutation_p.S142I|APTX_ENST00000397172.3_Intron|APTX_ENST00000468275.1_Missense_Mutation_p.S142I|APTX_ENST00000379819.1_Missense_Mutation_p.S156I|APTX_ENST00000379825.2_Missense_Mutation_p.S156I|APTX_ENST00000476858.1_Missense_Mutation_p.S102I			Q7Z2E3	APTX_HUMAN	aprataxin	156					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GCCAGAGTTGCTCCCAGGTTC	0.488								Editing and processing nucleases					False	0	False	9:32987600	0	A	32987600	C	A	32987600	3	1	88	1	0	0	0	0	1	0	0	0	822	797	28	3	632	3	APTX	9	32987600	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202765	32987600	108225831	9595	17307											
DNAJA1	3301	broad.mit.edu	37	chr9	33029948	33029948	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataatggtgcaacaagaaaaCtggctctgcaaaagaatgtg	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33029948C>A	ENST00000330899.4	+	4	559	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	DNAJA1_ENST00000544625.1_5'UTR|DNAJA1_ENST00000495015.1_Intron	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	126					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		AACAAGAAAACTGGCTCTGCA	0.318													False	0	True	9:33029948	0	A	33029948	C	A	33029948	3	1	88	1	0	0	0	0	1	0	0	0	4641	564	20	3	386	3	DNAJA1	9	33029948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42348	33029948	108183483	9596	17308											
DNAJA1	3301	broad.mit.edu	37	chr9	33034281	33034281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccaggactggagccaggCgatattatcattgtgttaga	12	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33034281C>T	ENST00000330899.4	+	6	894	c.711C>T	c.(709-711)ggC>ggT	p.G237G	DNAJA1_ENST00000544625.1_Silent_p.G80G|DNAJA1_ENST00000495015.1_3'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	237					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGGAGCCAGGCGATATTATCA	0.368													False	0	False	9:33034281	0	T	33034281	C	T	33034281	2	4	88	1	0	0	0	0	0	0	0	1	4641	755	27	1		1	DNAJA1	9	33034281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4333	33034281	108179150	9597	17309											
BAG1	573	broad.mit.edu	37	chr9	33264396	33264396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgcttcctcactcagggTcaactcctcgctccgggtca	10	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33264396T>C	ENST00000472232.3	-	1	363	c.277A>G	c.(277-279)Acc>Gcc	p.T93A	BAG1_ENST00000379704.2_5'UTR	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314	Q99933	BAG1_HUMAN	BCL2-associated athanogene	93					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			TCACTCAGGGTCAACTCCTCG	0.682													False	0	True	9:33264396	0	C	33264396	T	C	33264396	3	2	88	1	0	0	0	0	1	0	0	0	1290	1667	58	4	788	4	BAG1	9	33264396	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	230115	33264396	107949035	9598	17310											
AQP7	364	broad.mit.edu	37	chr9	33385652	33385652	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggcaggggcagtacctgaaGacctgtttgccccaaccagc	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33385652G>A	ENST00000541274.1	-	5	792	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	AQP7_ENST00000537089.1_Silent_p.V154V|AQP7_ENST00000539936.1_Silent_p.V246V|AQP7_ENST00000377425.4_Silent_p.V189V			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	p.V246V(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AGTACCTGAAGACCTGTTTGC	0.607													False	0	False	9:33385652	0	A	33385652	G	A	33385652	3	1	88	1	0	0	0	0	1	0	0	0	833	929	33	2	298	2	AQP7	9	33385652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121256	33385652	107827779	9599	17311											
AQP3	360	broad.mit.edu	37	chr9	33447441	33447441	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccaggatgagggtccccaGgcactcggccagcgcctgtc	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33447441G>T	ENST00000297991.4	-	1	168	c.88C>A	c.(88-90)Ctg>Atg	p.L30M	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	30					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		AGGGTCCCCAGGCACTCGGCC	0.677													False	0	False	9:33447441	0	T	33447441	G	T	33447441	3	4	88	1	0	0	0	0	1	0	0	0	829	991	35	3	814	3	AQP3	9	33447441	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61789	33447441	107765990	9600	17312											
NOL6	65083	broad.mit.edu	37	chr9	33463341	33463341	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcaggccccggcagaaggaGgcagctggcgagtccacagc	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33463341G>T	ENST00000455041.2	-	23	2996	c.2937C>A	c.(2935-2937)gcC>gcA	p.A979A	NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1031					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGCAGAAGGAGGCAGCTGGCG	0.647													False	0	False	9:33463341	0	T	33463341	G	T	33463341	2	4	88	1	0	0	0	0	0	0	0	1	10593	987	35	3		3	NOL6	9	33463341	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15900	33463341	107750090	9601	17313											
NOL6	65083	broad.mit.edu	37	chr9	33468760	33468760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcctcacccagaaactgCaagacacttctcaggacctg	8	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33468760C>T	ENST00000379471.2	-	8	1224	c.1137G>A	c.(1135-1137)ttG>ttA	p.L379L	NOL6_ENST00000455041.2_Silent_p.L319L|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	379					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCAGAAACTGCAAGACACTTC	0.527													False	0	False	9:33468760	0	T	33468760	C	T	33468760	2	4	88	1	0	0	0	0	0	0	0	1	10593	709	25	2		2	NOL6	9	33468760	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5419	33468760	107744671	9602	17314											
NOL6	65083	broad.mit.edu	37	chr9	33468868	33468868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccagtaaacccaccctgGccctgaaagagacagggaga	10	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33468868G>A	ENST00000379471.2	-	8	1116	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	NOL6_ENST00000455041.2_Silent_p.G283G|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	343					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACCCACCCTGGCCCTGAAAGA	0.582													False	0	True	9:33468868	0	A	33468868	G	A	33468868	2	1	88	1	0	0	0	0	0	0	0	1	10593	1190	42	2		2	NOL6	9	33468868	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108	33468868	107744563	9603	17315											
UBAP2	55833	broad.mit.edu	37	chr9	33922776	33922776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatggtgggggtgcatagCcaggggccgctcccgaggcc	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33922776C>T	ENST00000379238.1	-	28	3290	c.3173G>A	c.(3172-3174)gGc>gAc	p.G1058D	UBAP2_ENST00000379239.4_Missense_Mutation_p.G791D|UBAP2_ENST00000449054.1_Missense_Mutation_p.G1058D|UBAP2_ENST00000360802.1_Missense_Mutation_p.G1058D|UBAP2_ENST00000539807.1_Missense_Mutation_p.G813D|UBAP2_ENST00000379235.1_Missense_Mutation_p.G297D			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	1058										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGGTGCATAGCCAGGGGCCGC	0.627													False	0	False	9:33922776	0	T	33922776	C	T	33922776	3	4	88	1	0	0	0	0	1	0	0	0	16921	739	26	2	194	2	UBAP2	9	33922776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453908	33922776	107290655	9604	17316											
UBAP2	55833	broad.mit.edu	37	chr9	33953440	33953440	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcttgactgtgaggaAcaggcttctggagcaaggct	15	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33953440A>G	ENST00000379238.1	-	12	1016	c.899T>C	c.(898-900)gTt>gCt	p.V300A	UBAP2_ENST00000379239.4_Missense_Mutation_p.V33A|UBAP2_ENST00000449054.1_Missense_Mutation_p.V300A|UBAP2_ENST00000360802.1_Missense_Mutation_p.V300A|UBAP2_ENST00000418786.2_Missense_Mutation_p.V247A|UBAP2_ENST00000539807.1_Missense_Mutation_p.V55A			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	300										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTGTGAGGAACAGGCTTCTG	0.453													False	0	False	9:33953440	0	G	33953440	A	G	33953440	3	3	88	1	0	0	0	0	1	0	0	0	16921	43	2	4	2532	4	UBAP2	9	33953440	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30664	33953440	107259991	9605	17317											
UBAP2	55833	broad.mit.edu	37	chr9	34017072	34017072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacttgtttctgtggttgCgttgattgtgctgctgaaat	11	7	1	2	rs147991027		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34017072C>T	ENST00000379238.1	-	2	192	c.75G>A	c.(73-75)acG>acA	p.T25T	UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000449054.1_Silent_p.T25T|UBAP2_ENST00000360802.1_Silent_p.T25T|UBAP2_ENST00000418786.2_Silent_p.T25T|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000539807.1_5'UTR			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	25										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCTGTGGTTGCGTTGATTGTG	0.343													False	0	False	9:34017072	0	T	34017072	C	T	34017072	2	4	88	1	0	0	0	0	0	0	0	1	16921	755	27	1		1	UBAP2	9	34017072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63632	34017072	107196359	9606	17318											
KIF24	347240	broad.mit.edu	37	chr9	34263156	34263156	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgttcctgatccagtgctcgGatacattccttcagctgcaa	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34263156G>A	ENST00000379166.2	-	9	1577	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	KIF24_ENST00000345050.2_Silent_p.I352I|KIF24_ENST00000402558.2_Silent_p.I486I|KIF24_ENST00000379174.3_Silent_p.I352I	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	486					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCAGTGCTCGGATACATTCCT	0.458													False	0	False	9:34263156	0	A	34263156	G	A	34263156	2	1	88	1	0	0	0	0	0	0	0	1	8342	1164	41	2		2	KIF24	9	34263156	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246084	34263156	106950275	9607	17319											
KIAA1161	57462	broad.mit.edu	37	chr9	34372078	34372078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttgtggatggaggtgacGtctgagcccacgcacactcg	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34372078G>A	ENST00000297625.7	-	2	987	c.762C>T	c.(760-762)gaC>gaT	p.D254D		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	288					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGGAGGTGACGTCTGAGCCCA	0.657													False	0	False	9:34372078	0	A	34372078	G	A	34372078	2	1	88	1	0	0	0	0	0	0	0	1	8261	1136	40	1		1	KIAA1161	9	34372078	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108922	34372078	106841353	9608	17320											
C9orf24	84688	broad.mit.edu	37	chr9	34379117	34379117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtctcagacacaaactcaGgatggataacatagttgttt	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34379117G>T	ENST00000379124.1	-	4	547	c.452C>A	c.(451-453)cCt>cAt	p.P151H	C9orf24_ENST00000297623.2_3'UTR|C9orf24_ENST00000481295.1_5'UTR|C9orf24_ENST00000379133.3_3'UTR|C9orf24_ENST00000379126.3_Missense_Mutation_p.P98H|C9orf24_ENST00000379127.1_Missense_Mutation_p.P151H			Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	57										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		CACAAACTCAGGATGGATAAC	0.488											OREG0019150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	9:34379117	0	T	34379117	G	T	34379117	3	4	88	1	0	0	0	0	1	0	0	0	2495	1000	35	3	46	3	C9orf24	9	34379117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7039	34379117	106834314	9609	17321											
DNAI1	27019	broad.mit.edu	37	chr9	34500719	34500719	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctgcctgtgtgtgtttaaGattttaagtactatgacgat	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34500719G>T	ENST00000242317.4	+	11	1072		c.e11-1			NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1						cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GTGTGTTTAAGATTTTAAGTA	0.522									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:34500719	0	T	34500719	G	T	34500719	5	4	88	1	0	0	0	0	0	0	1	0	4639	956	33	3	943	3	DNAI1	9	34500719	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121602	34500719	106712712	9610	17322											
DNAI1	27019	broad.mit.edu	37	chr9	34506735	34506735	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcatgtgtctcgacatcCacgtggaccacccctacctg	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34506735C>A	ENST00000242317.4	+	13	1345	c.1174C>A	c.(1174-1176)Cac>Aac	p.H392N		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	392					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCTCGACATCCACGTGGACCA	0.592									Kartagener syndrome				False	0	False	9:34506735	0	A	34506735	C	A	34506735	3	1	88	1	0	0	0	0	1	0	0	0	4639	594	21	3	1224	3	DNAI1	9	34506735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6016	34506735	106706696	9611	17323											
ARID3C	138715	broad.mit.edu	37	chr9	34621468	34621468	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacctctcagggcaagatgCtggaagggggccctgtggag	18	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34621468C>A	ENST00000378909.2	-	7	1318	c.1226G>T	c.(1225-1227)aGc>aTc	p.S409I		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	409	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GGGCAAGATGCTGGAAGGGGG	0.622													False	0	False	9:34621468	0	A	34621468	C	A	34621468	3	1	88	1	0	0	0	0	1	0	0	0	920	797	28	3	15	3	ARID3C	9	34621468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114733	34621468	106591963	9612	17324											
SIGMAR1	10280	broad.mit.edu	37	chr9	34635839	34635839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgttgcctcaccaggcccGtgtactaccgtctcccctgg	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34635839G>A	ENST00000378892.1	-	3	622	c.195C>T	c.(193-195)caC>caT	p.H65H	SIGMAR1_ENST00000477726.1_Silent_p.H123H|SIGMAR1_ENST00000277010.4_Silent_p.H154H|SIGMAR1_ENST00000461426.1_5'UTR			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	154					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	CACCAGGCCCGTGTACTACCG	0.647													False	0	True	9:34635839	0	A	34635839	G	A	34635839	2	1	88	1	0	0	0	0	0	0	0	1	14397	1136	40	1		1	SIGMAR1	9	34635839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14371	34635839	106577592	9613	17325											
GALT	2592	broad.mit.edu	37	chr9	34648390	34648390	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggagcgatctcagcaggcCtataagagtcagcatggaga	14	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34648390C>A	ENST00000378842.3	+	7	666	c.624C>A	c.(622-624)gcC>gcA	p.A208A	GALT_ENST00000556278.1_Silent_p.A123A|GALT_ENST00000450095.2_Silent_p.A99A	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	208					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTCAGCAGGCCTATAAGAGTC	0.572									Galactosemia				False	0	False	9:34648390	0	A	34648390	C	A	34648390	2	1	88	1	0	0	0	0	0	0	0	1	6273	668	24	3		3	GALT	9	34648390	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12551	34648390	106565041	9614	17326											
CCL27	10850	broad.mit.edu	37	chr9	34662348	34662348	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggatgaccttcctcagtaGcttgtctgagagtggctttc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34662348G>T	ENST00000259631.4	-	2	194	c.136C>A	c.(136-138)Cta>Ata	p.L46I	CCL27_ENST00000557161.1_5'UTR|RP11-195F19.30_ENST00000564224.1_RNA	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	46					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTCCTCAGTAGCTTGTCTGAG	0.582													False	0	False	9:34662348	0	T	34662348	G	T	34662348	3	4	88	1	0	0	0	0	1	0	0	0	2920	962	34	3	210	3	CCL27	9	34662348	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13958	34662348	106551083	9615	17327											
CCL21	6366	broad.mit.edu	37	chr9	34709608	34709608	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcttgtccagatgctgcAtcagctgctgcacccagagc	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34709608A>T	ENST00000259607.2	-	3	317	c.260T>A	c.(259-261)aTg>aAg	p.M87K	CCL21_ENST00000378792.1_Missense_Mutation_p.M87K	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	87					activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CAGATGCTGCATCAGCTGCTG	0.592													False	0	False	9:34709608	0	T	34709608	A	T	34709608	3	4	88	1	0	0	0	0	1	0	0	0	2914	217	8	5	152	5	CCL21	9	34709608	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47260	34709608	106503823	9616	17328											
KIAA1045	23349	broad.mit.edu	37	chr9	34972508	34972508	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatggcccacacagaaacaGgctggagctgccactactgt	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34972508G>T	ENST00000242315.3	+	3	626	c.544G>T	c.(544-546)Ggc>Tgc	p.G182C	KIAA1045_ENST00000544237.1_Missense_Mutation_p.G182C|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	182							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CACAGAAACAGGCTGGAGCTG	0.572													False	0	False	9:34972508	0	T	34972508	G	T	34972508	3	4	88	1	0	0	0	0	1	0	0	0	8257	1000	35	3	550	3	KIAA1045	9	34972508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262900	34972508	106240923	9617	17329											
DNAJB5	25822	broad.mit.edu	37	chr9	34993428	34993428	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacggggcctgtatgaccaGtatggggaggaaggtaagag	17	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34993428G>A	ENST00000541010.1	+	1	3210	c.198G>A	c.(196-198)caG>caA	p.Q66Q	DNAJB5_ENST00000312316.5_Silent_p.Q66Q|DNAJB5_ENST00000545841.1_Silent_p.Q66Q|DNAJB5_ENST00000453597.3_Silent_p.Q180Q|DNAJB5_ENST00000454002.2_Silent_p.Q138Q|DNAJB5_ENST00000335998.3_Silent_p.Q100Q			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	66	J.				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGTATGACCAGTATGGGGAGG	0.552													False	0	False	9:34993428	0	A	34993428	G	A	34993428	2	1	88	1	0	0	0	0	0	0	0	1	4653	1020	36	2		2	DNAJB5	9	34993428	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20920	34993428	106220003	9618	17330											
C9orf131	138724	broad.mit.edu	37	chr9	35044417	35044417	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacaaaagacaaaaaactcCtgggcctctaagcacccagc	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35044417C>A	ENST00000312292.5	+	2	1838	c.1791C>A	c.(1789-1791)tcC>tcA	p.S597S	C9orf131_ENST00000421362.2_Silent_p.S549S|C9orf131_ENST00000354479.5_Silent_p.S524S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	597										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CAAAAAACTCCTGGGCCTCTA	0.522													False	0	False	9:35044417	0	A	35044417	C	A	35044417	2	1	88	1	0	0	0	0	0	0	0	1	2477	668	24	3		3	C9orf131	9	35044417	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50989	35044417	106169014	9619	17331											
C9orf131	138724	broad.mit.edu	37	chr9	35045017	35045017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagaaactgcggcagagCcctgcctccagagcccctgg	12	15	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35045017C>T	ENST00000312292.5	+	2	2438	c.2391C>T	c.(2389-2391)agC>agT	p.S797S	C9orf131_ENST00000421362.2_Silent_p.S749S|C9orf131_ENST00000354479.5_Silent_p.S724S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	797										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGCGGCAGAGCCCTGCCTCCA	0.577													False	0	True	9:35045017	0	T	35045017	C	T	35045017	2	4	88	1	0	0	0	0	0	0	0	1	2477	738	26	2		2	C9orf131	9	35045017	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	600	35045017	106168414	9620	17332											
FANCG	2189	broad.mit.edu	37	chr9	35075020	35075020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgactaattagggcggctgCccgaagctgctgcagtgccg	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35075020C>T	ENST00000378643.3	-	12	2031	c.1540G>A	c.(1540-1542)Gca>Aca	p.A514T	FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	514					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGGCGGCTGCCCGAAGCTGC	0.567			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks					False	0	True	9:35075020	0	T	35075020	C	T	35075020	3	4	88	1	0	0	0	0	1	0	0	0	5708	739	26	2	340	2	FANCG	9	35075020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30003	35075020	106138411	9621	17333											
PIGO	84720	broad.mit.edu	37	chr9	35093540	35093540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatggtccccagccactaCcagcagtgtgtcattctcca	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35093540C>T	ENST00000378617.3	-	5	1211	c.817G>A	c.(817-819)Gta>Ata	p.V273I	PIGO_ENST00000298004.5_Missense_Mutation_p.V273I|PIGO_ENST00000361778.2_Missense_Mutation_p.V273I|PIGO_ENST00000341666.3_Missense_Mutation_p.V273I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	273					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCAGCCACTACCAGCAGTGTG	0.498													False	0	False	9:35093540	0	T	35093540	C	T	35093540	3	4	88	1	0	0	0	0	1	0	0	0	11963	507	18	2	2480	2	PIGO	9	35093540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18520	35093540	106119891	9622	17334											
PIGO	84720	broad.mit.edu	37	chr9	35095227	35095227	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgggcatggtggggctgaatCtccaggatcctctgcaagga	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35095227C>T	ENST00000378617.3	-	2	730	c.336G>A	c.(334-336)gaG>gaA	p.E112E	PIGO_ENST00000298004.5_Silent_p.E112E|PIGO_ENST00000361778.2_Silent_p.E112E|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000341666.3_Silent_p.E112E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	112					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGGCTGAATCTCCAGGATCC	0.597													False	0	False	9:35095227	0	T	35095227	C	T	35095227	2	4	88	1	0	0	0	0	0	0	0	1	11963	912	32	2		2	PIGO	9	35095227	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1687	35095227	106118204	9623	17335											
STOML2	30968	broad.mit.edu	37	chr9	35101137	35101137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccctctcctgacctgctGcctgatttatctgttcagcc	6	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35101137G>A	ENST00000356493.5	-	7	781	c.719C>T	c.(718-720)gCa>gTa	p.A240V	STOML2_ENST00000452248.2_Missense_Mutation_p.A195V	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	240						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGACCTGCTGCCTGATTTAT	0.557													False	0	False	9:35101137	0	A	35101137	G	A	35101137	3	1	88	1	0	0	0	0	1	0	0	0	15396	1319	46	2	367	2	STOML2	9	35101137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5910	35101137	106112294	9624	17336											
STOML2	30968	broad.mit.edu	37	chr9	35101490	35101490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatctcataacggaggcagCggataccccagcagtcagca	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35101490C>T	ENST00000356493.5	-	6	574	c.512G>A	c.(511-513)cGc>cAc	p.R171H	STOML2_ENST00000452248.2_Intron	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	171						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGGAGGCAGCGGATACCCCA	0.567													False	0	False	9:35101490	0	T	35101490	C	T	35101490	3	4	88	1	0	0	0	0	1	0	0	0	15396	768	27	1	578	1	STOML2	9	35101490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353	35101490	106111941	9625	17337											
UNC13B	10497	broad.mit.edu	37	chr9	35381663	35381663	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgagacagcccaagaaatTgtggatgaatttgccatgcg	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35381663T>C	ENST00000378495.3	+	19	2577	c.2355T>C	c.(2353-2355)atT>atC	p.I785I	UNC13B_ENST00000378496.4_Silent_p.I785I|UNC13B_ENST00000396787.1_Silent_p.I797I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	785					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAAGAAATTGTGGATGAAT	0.517													False	0	False	9:35381663	0	C	35381663	T	C	35381663	2	2	88	1	0	0	0	0	0	0	0	1	17069	1800	63	4		4	UNC13B	9	35381663	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	280173	35381663	105831768	9626	17338											
UNC13B	10497	broad.mit.edu	37	chr9	35403836	35403836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagatcgcgtgctagggCtggctgtgatgcctctgagg	18	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35403836C>T	ENST00000378495.3	+	39	4804	c.4582C>T	c.(4582-4584)Ctg>Ttg	p.L1528L	UNC13B_ENST00000378496.4_Silent_p.L1547L|UNC13B_ENST00000396787.1_Silent_p.L1559L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1528	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CGTGCTAGGGCTGGCTGTGAT	0.587													False	0	True	9:35403836	0	T	35403836	C	T	35403836	2	4	88	1	0	0	0	0	0	0	0	1	17069	796	28	2		2	UNC13B	9	35403836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22173	35403836	105809595	9627	17339											
RUSC2	9853	broad.mit.edu	37	chr9	35548113	35548113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagggccctgcagccatggCcgggcctggctccccaccca	13	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35548113C>T	ENST00000455600.1	+	2	2164	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	532						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCCATGGCCGGGCCTGGC	0.657													False	0	False	9:35548113	0	T	35548113	C	T	35548113	3	4	88	1	0	0	0	0	1	0	0	0	13830	739	26	2	1597	2	RUSC2	9	35548113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144277	35548113	105665318	9628	17340											
RUSC2	9853	broad.mit.edu	37	chr9	35548220	35548220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacttcgtgtgagtgttgggGactcctcccaggagttctca	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35548220G>A	ENST00000455600.1	+	2	2271	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	568						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAGTGTTGGGGACTCCTCCCA	0.637													False	0	True	9:35548220	0	A	35548220	G	A	35548220	3	1	88	1	0	0	0	0	1	0	0	0	13830	1174	41	2	1704	2	RUSC2	9	35548220	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107	35548220	105665211	9629	17341											
FAM166B	730112	broad.mit.edu	37	chr9	35563812	35563812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagccctggtatgaaggtgCtggccacagccatggggagc	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35563812C>A	ENST00000399742.2	-	1	84	c.14G>T	c.(13-15)aGc>aTc	p.S5I	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	5										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TATGAAGGTGCTGGCCACAGC	0.577													False	0	False	9:35563812	0	A	35563812	C	A	35563812	3	1	88	1	0	0	0	0	1	0	0	0	5518	797	28	3	656	3	FAM166B	9	35563812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15592	35563812	105649619	9630	17342											
TESK1	7016	broad.mit.edu	37	chr9	35609358	35609358	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacttcatcagcacctgttcCtcggcctcccaaccctggtc	6	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35609358C>A	ENST00000336395.5	+	10	1750	c.1500C>A	c.(1498-1500)tcC>tcA	p.S500S	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	500					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCACCTGTTCCTCGGCCTCCC	0.642													False	0	False	9:35609358	0	A	35609358	C	A	35609358	2	1	88	1	0	0	0	0	0	0	0	1	15849	668	24	3		3	TESK1	9	35609358	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45546	35609358	105604073	9631	17343											
CA9	768	broad.mit.edu	37	chr9	35675756	35675756	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactatactctcccaccccAggcgacccgccctggccccg	7	22	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35675756A>G	ENST00000378357.4	+	3	537		c.e3-1			NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX						one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCCACCCCAGGCGACCCGC	0.706													False	0	True	9:35675756	0	G	35675756	A	G	35675756	5	3	88	1	0	0	0	0	0	0	1	0	2544	202	7	4	442	4	CA9	9	35675756	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66398	35675756	105537675	9632	17344											
TPM2	7169	broad.mit.edu	37	chr9	35685060	35685060	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggttcagaggggtcactaCctcctcctctgaggccatca	10	13	4	2	rs1136580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35685060C>A	ENST00000378292.3	-	6	1842		c.e6+1		TPM2_ENST00000360958.2_Intron|TPM2_ENST00000329305.2_Intron|TPM2_ENST00000378300.5_Intron	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)						muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGTCACTACCTCCTCCTCT	0.627													False	0	True	9:35685060	0	A	35685060	C	A	35685060	5	1	88	1	0	0	0	0	0	0	1	0	16489	521	18	3	397	3	TPM2	9	35685060	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9304	35685060	105528371	9633	17345											
TPM2	7169	broad.mit.edu	37	chr9	35685748	35685748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaaccagctgaatgcgGcggttcagggaggccacatc	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35685748G>A	ENST00000378292.3	-	3	1472	c.270C>T	c.(268-270)cgC>cgT	p.R90R	TPM2_ENST00000360958.2_Silent_p.R90R|TPM2_ENST00000329305.2_Silent_p.R90R|TPM2_ENST00000378300.5_Silent_p.R90R	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	90					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGAATGCGGCGGTTCAGGG	0.622													False	0	False	9:35685748	0	A	35685748	G	A	35685748	2	1	88	1	0	0	0	0	0	0	0	1	16489	1190	42	2		2	TPM2	9	35685748	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	688	35685748	105527683	9634	17346											
TLN1	7094	broad.mit.edu	37	chr9	35697899	35697899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttccgaagcatttcttcCtgtgctgcgatgatctgagg	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35697899C>A	ENST00000314888.9	-	57	7868	c.7515G>T	c.(7513-7515)caG>caT	p.Q2505H	TLN1_ENST00000540444.1_Missense_Mutation_p.Q2393H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2505	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCATTTCTTCCTGTGCTGCGA	0.562													False	0	False	9:35697899	0	A	35697899	C	A	35697899	3	1	88	1	0	0	0	0	1	0	0	0	16029	680	24	3	114	3	TLN1	9	35697899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12151	35697899	105515532	9635	17347											
TLN1	7094	broad.mit.edu	37	chr9	35699410	35699410	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccagccacacgctttgAatgtcctgtcaactgctgct	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35699410A>C	ENST00000314888.9	-	51	7170	c.6817T>G	c.(6817-6819)Tca>Gca	p.S2273A	TLN1_ENST00000540444.1_Missense_Mutation_p.S2161A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2273					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACACGCTTTGAATGTCCTGTC	0.567													False	0	False	9:35699410	0	C	35699410	A	C	35699410	3	2	88	1	0	0	0	0	1	0	0	0	16029	246	9	4	836	4	TLN1	9	35699410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1511	35699410	105514021	9636	17348											
TLN1	7094	broad.mit.edu	37	chr9	35705570	35705570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcattttcagcagccaccGctgcaggcttggcctccgag	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35705570G>A	ENST00000314888.9	-	43	6064	c.5711C>T	c.(5710-5712)gCg>gTg	p.A1904V	TLN1_ENST00000540444.1_Intron|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1904	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGCCACCGCTGCAGGCTT	0.602													False	0	False	9:35705570	0	A	35705570	G	A	35705570	3	1	88	1	0	0	0	0	1	0	0	0	16029	1087	38	1	1974	1	TLN1	9	35705570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6160	35705570	105507861	9637	17349											
TLN1	7094	broad.mit.edu	37	chr9	35707247	35707247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgggctccatggcagcccGaccctggggagaggggaggc	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35707247G>A	ENST00000314888.9	-	37	5130	c.4777C>T	c.(4777-4779)Cgg>Tgg	p.R1593W	TLN1_ENST00000540444.1_Missense_Mutation_p.R1593W|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1593	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCAGCCCGACCCTGGGGA	0.607													False	0	True	9:35707247	0	A	35707247	G	A	35707247	3	1	88	1	0	0	0	0	1	0	0	0	16029	1057	37	1	2932	1	TLN1	9	35707247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1677	35707247	105506184	9638	17350											
TLN1	7094	broad.mit.edu	37	chr9	35708471	35708471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggtcagagacaccaaccAgatatgcagcctgggaagag	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35708471A>G	ENST00000314888.9	-	34	4690	c.4337T>C	c.(4336-4338)cTg>cCg	p.L1446P	TLN1_ENST00000540444.1_Missense_Mutation_p.L1446P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1446	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACACCAACCAGATATGCAGC	0.522													False	0	True	9:35708471	0	G	35708471	A	G	35708471	3	3	88	1	0	0	0	0	1	0	0	0	16029	188	7	4	3384	4	TLN1	9	35708471	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1224	35708471	105504960	9639	17351											
TLN1	7094	broad.mit.edu	37	chr9	35714813	35714813	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaggccttgggggtagaggCtgcgtgctgagctgcagcga	19	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35714813C>G	ENST00000314888.9	-	22	3168	c.2815G>C	c.(2815-2817)Gcc>Ccc	p.A939P	TLN1_ENST00000540444.1_Missense_Mutation_p.A939P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	939					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGTAGAGGCTGCGTGCTGA	0.602													False	0	False	9:35714813	0	G	35714813	C	G	35714813	3	3	88	1	0	0	0	0	1	0	0	0	16029	797	28	5	4954	5	TLN1	9	35714813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6342	35714813	105498618	9640	17352											
TLN1	7094	broad.mit.edu	37	chr9	35715097	35715097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttgatggcattctgcgCagctgcattggtggccatgc	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35715097C>T	ENST00000314888.9	-	21	3066	c.2713G>A	c.(2713-2715)Gcg>Acg	p.A905T	TLN1_ENST00000540444.1_Missense_Mutation_p.A905T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	905					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCATTCTGCGCAGCTGCATTG	0.622													False	0	False	9:35715097	0	T	35715097	C	T	35715097	3	4	88	1	0	0	0	0	1	0	0	0	16029	710	25	2	5060	2	TLN1	9	35715097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284	35715097	105498334	9641	17353											
TLN1	7094	broad.mit.edu	37	chr9	35715139	35715139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccctcagctgcctcccGcagccgctgctgctgctcct	9	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35715139G>A	ENST00000314888.9	-	21	3024	c.2671C>T	c.(2671-2673)Cgg>Tgg	p.R891W	TLN1_ENST00000540444.1_Missense_Mutation_p.R891W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	891					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGCCTCCCGCAGCCGCTGC	0.612													False	0	True	9:35715139	0	A	35715139	G	A	35715139	3	1	88	1	0	0	0	0	1	0	0	0	16029	1086	38	1	5102	1	TLN1	9	35715139	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	35715139	105498292	9642	17354											
TLN1	7094	broad.mit.edu	37	chr9	35725685	35725685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatcttcagtgaaagtgCaaccatggtggcagcttctt	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35725685C>T	ENST00000314888.9	-	2	360	c.7G>A	c.(7-9)Gca>Aca	p.A3T	TLN1_ENST00000540444.1_Missense_Mutation_p.A3T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	3					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTGAAAGTGCAACCATGGTG	0.532													False	0	False	9:35725685	0	T	35725685	C	T	35725685	3	4	88	1	0	0	0	0	1	0	0	0	16029	710	25	2	7842	2	TLN1	9	35725685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10546	35725685	105487746	9643	17355											
GBA2	57704	broad.mit.edu	37	chr9	35737268	35737268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggaggcctttttgtgCtgctgctgttgcagggctag	16	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35737268C>T	ENST00000378103.3	-	17	3205	c.2682G>A	c.(2680-2682)caG>caA	p.Q894Q	GBA2_ENST00000545786.1_Silent_p.Q900Q|GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000378088.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	894					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTTTTGTGCTGCTGCTGTT	0.572													False	0	True	9:35737268	0	T	35737268	C	T	35737268	2	4	88	1	0	0	0	0	0	0	0	1	6310	796	28	2		2	GBA2	9	35737268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11583	35737268	105476163	9644	17356											
GBA2	57704	broad.mit.edu	37	chr9	35739666	35739666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagtcccgtagggtggggCggaggtgacacatgtttctg	17	8	1	1	rs148982744		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35739666C>T	ENST00000378094.4	-	9	2054	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H	GBA2_ENST00000545786.1_Missense_Mutation_p.R520H|GBA2_ENST00000378103.3_Missense_Mutation_p.R514H|GBA2_ENST00000467252.1_5'UTR			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	514					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGGGTGGGGCGGAGGTGACA	0.552													False	0	True	9:35739666	0	T	35739666	C	T	35739666	3	4	88	1	0	0	0	0	1	0	0	0	6310	768	27	1	1278	1	GBA2	9	35739666	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2398	35739666	105473765	9645	17357											
GBA2	57704	broad.mit.edu	37	chr9	35740847	35740847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgcagccacagccatcGtgtaggggtttggaagggtt	15	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35740847G>A	ENST00000378094.4	-	5	1514	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	GBA2_ENST00000545786.1_Missense_Mutation_p.T340M|GBA2_ENST00000378103.3_Missense_Mutation_p.T334M|GBA2_ENST00000467252.1_5'UTR			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	334					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACAGCCATCGTGTAGGGGTT	0.602													False	0	False	9:35740847	0	A	35740847	G	A	35740847	3	1	88	1	0	0	0	0	1	0	0	0	6310	1145	40	1	1834	1	GBA2	9	35740847	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1181	35740847	105472584	9646	17358											
GBA2	57704	broad.mit.edu	37	chr9	35741771	35741771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcggggatagagggcatgGtagaaagcaaagtacccaca	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35741771G>A	ENST00000378094.4	-	4	1197	c.684C>T	c.(682-684)taC>taT	p.Y228Y	GBA2_ENST00000545786.1_Silent_p.Y234Y|GBA2_ENST00000378103.3_Silent_p.Y228Y|GBA2_ENST00000467252.1_5'UTR			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	228					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGGGCATGGTAGAAAGCAA	0.592													False	0	False	9:35741771	0	A	35741771	G	A	35741771	2	1	88	1	0	0	0	0	0	0	0	1	6310	1256	44	2		2	GBA2	9	35741771	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	924	35741771	105471660	9647	17359											
RGP1	9827	broad.mit.edu	37	chr9	35749374	35749374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcgggcagatgaggcctaGgggtgccgatccctagtgtc	18	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35749374G>T	ENST00000456972.2	+	2	70	c.70G>T	c.(70-72)Ggg>Tgg	p.G24W	RGP1_ENST00000378078.4_5'UTR|GBA2_ENST00000545786.1_Intron			Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	0										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGAGGCCTAGGGGTGCCGAT	0.682													False	0	True	9:35749374	0	T	35749374	G	T	35749374	3	4	88	1	0	0	0	0	1	0	0	0	13363	1000	35	3	76	3	RGP1	9	35749374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7603	35749374	105464057	9648	17360											
NPR2	4882	broad.mit.edu	37	chr9	35792966	35792966	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacttcaccatcgagggcgtCtttgaggccctgcagggcag	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35792966C>A	ENST00000342694.2	+	1	816	c.561C>A	c.(559-561)gtC>gtA	p.V187V		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	187					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCGAGGGCGTCTTTGAGGCCC	0.627													False	0	True	9:35792966	0	A	35792966	C	A	35792966	2	1	88	1	0	0	0	0	0	0	0	1	10663	900	32	3		3	NPR2	9	35792966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43592	35792966	105420465	9649	17361											
NPR2	4882	broad.mit.edu	37	chr9	35805906	35805906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggctgacgtctatagCtttgggatcatcctgcagga	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35805906C>A	ENST00000342694.2	+	14	2382	c.2127C>A	c.(2125-2127)agC>agA	p.S709R		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	709	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACGTCTATAGCTTTGGGATCA	0.547													False	0	True	9:35805906	0	A	35805906	C	A	35805906	3	1	88	1	0	0	0	0	1	0	0	0	10663	796	28	3	2181	3	NPR2	9	35805906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12940	35805906	105407525	9650	17362											
SPAG8	26206	broad.mit.edu	37	chr9	35811225	35811225	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actggccccgcggcaaagttTcatagcaaaccataagcttc	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35811225T>G	ENST00000340291.2	-	2	942	c.818A>C	c.(817-819)gAa>gCa	p.E273A	SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Missense_Mutation_p.E271A|SPAG8_ENST00000396638.2_Missense_Mutation_p.E273A	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	273						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			CGGCAAAGTTTCATAGCAAAC	0.493													False	0	True	9:35811225	0	G	35811225	T	G	35811225	3	3	88	1	0	0	0	0	1	0	0	0	15066	1783	62	4	914	4	SPAG8	9	35811225	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5319	35811225	105402206	9651	17363											
SPAG8	26206	broad.mit.edu	37	chr9	35811564	35811564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacagccaggaccagagCcagagccagagccatggcca	12	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35811564C>T	ENST00000340291.2	-	2	603	c.479G>A	c.(478-480)gGc>gAc	p.G160D	SPAG8_ENST00000484764.1_Missense_Mutation_p.G158D|SPAG8_ENST00000396638.2_Missense_Mutation_p.G160D	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	160	Gly-rich.					acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			aggaccagagccagagccaga	0.602													False	0	True	9:35811564	0	T	35811564	C	T	35811564	3	4	88	1	0	0	0	0	1	0	0	0	15066	739	26	2	1253	2	SPAG8	9	35811564	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339	35811564	105401867	9652	17364											
TMEM8B	51754	broad.mit.edu	37	chr9	35842555	35842555	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgctggccagtgcgcccGactctgcgcaacgagctgga	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35842555G>A	ENST00000377988.2	+	6	1408	c.120G>A	c.(118-120)ccG>ccA	p.P40P	TMEM8B_ENST00000377991.4_Silent_p.P40P|TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000439587.2_Silent_p.P40P|TMEM8B_ENST00000377996.1_Silent_p.P40P	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	40					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CAGTGCGCCCGACTCTGCGCA	0.657													False	0	True	9:35842555	0	A	35842555	G	A	35842555	2	1	88	1	0	0	0	0	0	0	0	1	16297	1045	37	1		1	TMEM8B	9	35842555	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30991	35842555	105370876	9653	17365											
OR13J1	392309	broad.mit.edu	37	chr9	35870113	35870113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacatctggatggcacagaCagcaaaggagatggtcttcc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35870113C>T	ENST00000377981.2	-	1	348	c.286G>A	c.(286-288)Gtc>Atc	p.V96I		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCACAGACAGCAAAGGAG	0.607													False	0	True	9:35870113	0	T	35870113	C	T	35870113	3	4	88	1	0	0	0	0	1	0	0	0	11012	478	17	2	655	2	OR13J1	9	35870113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27558	35870113	105343318	9654	17366											
OR2S2	56656	broad.mit.edu	37	chr9	35957155	35957155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcactgagtgaagccttttGgtctcagcagtctcctcaca	8	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35957155G>A	ENST00000341959.2	-	1	996	c.941C>T	c.(940-942)cCa>cTa	p.P314L		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGCCTTTTGGTCTCAGCAG	0.502													False	0	True	9:35957155	0	A	35957155	G	A	35957155	3	1	88	1	0	0	0	0	1	0	0	0	11083	1348	47	2	22	2	OR2S2	9	35957155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87042	35957155	105256276	9655	17367											
RECK	8434	broad.mit.edu	37	chr9	36102199	36102199	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcacctacagatgatctgaaGaattgtatacctttggatac	7	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36102199G>T	ENST00000377966.3	+	12	1973	c.1407G>T	c.(1405-1407)aaG>aaT	p.K469N		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	469						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATGATCTGAAGAATTGTATAC	0.343													False	0	False	9:36102199	0	T	36102199	G	T	36102199	3	4	88	1	0	0	0	0	1	0	0	0	13279	933	33	3	1453	3	RECK	9	36102199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145044	36102199	105111232	9656	17368											
RECK	8434	broad.mit.edu	37	chr9	36118895	36118895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctcagagcacagctccGtcgccgagtgtgcttctgtc	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36118895G>A	ENST00000377966.3	+	18	2961	c.2395G>A	c.(2395-2397)Gtc>Atc	p.V799I		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	799						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCACAGCTCCGTCGCCGAGTG	0.602													False	0	False	9:36118895	0	A	36118895	G	A	36118895	3	1	88	1	0	0	0	0	1	0	0	0	13279	1145	40	1	2465	1	RECK	9	36118895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16696	36118895	105094536	9657	17369											
GLIPR2	152007	broad.mit.edu	37	chr9	36148567	36148567	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaggccctggccagcaCgaggatcctcaagcacagcc	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36148567C>A	ENST00000377960.4	+	3	180	c.146C>A	c.(145-147)aCg>aAg	p.T49K	GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.T49K	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	49						extracellular region|Golgi membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						CTGGCCAGCACGAGGATCCTC	0.592													False	0	False	9:36148567	0	A	36148567	C	A	36148567	3	1	88	1	0	0	0	0	1	0	0	0	6489	536	19	3	156	3	GLIPR2	9	36148567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29672	36148567	105064864	9658	17370											
CCIN	881	broad.mit.edu	37	chr9	36169849	36169849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcaacacaccacgccttcGagttcactgtaacgacttcc	5	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36169849G>A	ENST00000335119.2	+	1	461	c.350G>A	c.(349-351)cGa>cAa	p.R117Q		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	117	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.R117L(1)|p.R117Q(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCACGCCTTCGAGTTCACTGT	0.507													False	0	False	9:36169849	0	A	36169849	G	A	36169849	3	1	88	1	0	0	0	0	1	0	0	0	2899	1058	37	1	352	1	CCIN	9	36169849	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21282	36169849	105043582	9659	17371											
CCIN	881	broad.mit.edu	37	chr9	36169888	36169888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttattaagtccatctgccGtgccaactgcttgcgctacc	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36169888G>A	ENST00000335119.2	+	1	500	c.389G>A	c.(388-390)cGt>cAt	p.R130H		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	130					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCCATCTGCCGTGCCAACTGC	0.507													False	0	False	9:36169888	0	A	36169888	G	A	36169888	3	1	88	1	0	0	0	0	1	0	0	0	2899	1145	40	1	391	1	CCIN	9	36169888	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	36169888	105043543	9660	17372											
GNE	10020	broad.mit.edu	37	chr9	36218206	36218206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaggatgctctgggccttcGcattgccaagtttcgcagct	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36218206G>A	ENST00000396594.3	-	11	2111	c.2000C>T	c.(1999-2001)gCg>gTg	p.A667V	GNE_ENST00000377902.5_Missense_Mutation_p.A636V|GNE_ENST00000543356.2_Missense_Mutation_p.A631V|GNE_ENST00000539208.1_Missense_Mutation_p.A526V|GNE_ENST00000539815.1_Missense_Mutation_p.A636V|GNE_ENST00000447283.2_Missense_Mutation_p.A562V	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	636	N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CTGGGCCTTCGCATTGCCAAG	0.582													False	0	False	9:36218206	0	A	36218206	G	A	36218206	3	1	88	1	0	0	0	0	1	0	0	0	6567	1087	38	1	269	1	GNE	9	36218206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48318	36218206	104995225	9661	17373											
GNE	10020	broad.mit.edu	37	chr9	36229026	36229026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttatactcaccaagggtaCtgtttaccaaactgaaggtg	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36229026C>T	ENST00000396594.3	-	6	1266	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	GNE_ENST00000377902.5_Silent_p.Q354Q|GNE_ENST00000543356.2_Silent_p.Q349Q|GNE_ENST00000539208.1_Silent_p.Q244Q|GNE_ENST00000539815.1_Silent_p.Q354Q|GNE_ENST00000447283.2_Silent_p.Q354Q	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	354					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ACCAAGGGTACTGTTTACCAA	0.403													False	0	False	9:36229026	0	T	36229026	C	T	36229026	2	4	88	1	0	0	0	0	0	0	0	1	6567	564	20	2		2	GNE	9	36229026	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10820	36229026	104984405	9662	17374											
MELK	9833	broad.mit.edu	37	chr9	36589623	36589623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaccatgtgctagagacaGccaacaaaatattcatggtt	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36589623G>A	ENST00000543751.1	+	3	284	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	MELK_ENST00000545008.1_Missense_Mutation_p.A79T|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000536860.1_Missense_Mutation_p.A79T|MELK_ENST00000298048.2_Missense_Mutation_p.A79T|MELK_ENST00000541717.1_Missense_Mutation_p.A79T|MELK_ENST00000536329.1_Intron|MELK_ENST00000487398.1_3'UTR	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	79	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GCTAGAGACAGCCAACAAAAT	0.383													False	0	False	9:36589623	0	A	36589623	G	A	36589623	3	1	88	1	0	0	0	0	1	0	0	0	9537	971	34	2	245	2	MELK	9	36589623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	360597	36589623	104623808	9663	17375											
MELK	9833	broad.mit.edu	37	chr9	36677318	36677318	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attagtggaagacatcctatCtagctgcaaggtataattga	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36677318C>A	ENST00000543751.1	+	17	1989	c.1844C>A	c.(1843-1845)tCt>tAt	p.S615Y	MELK_ENST00000545008.1_Missense_Mutation_p.S576Y|MELK_ENST00000538311.1_Missense_Mutation_p.S453Y|MELK_ENST00000536987.1_Missense_Mutation_p.S516Y|MELK_ENST00000536860.1_Missense_Mutation_p.S599Y|MELK_ENST00000298048.2_Missense_Mutation_p.S647Y|MELK_ENST00000541717.1_Missense_Mutation_p.S606Y|MELK_ENST00000536329.1_Missense_Mutation_p.S576Y	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	647	KA1.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GACATCCTATCTAGCTGCAAG	0.458													False	0	False	9:36677318	0	A	36677318	C	A	36677318	3	1	88	1	0	0	0	0	1	0	0	0	9537	913	32	3	2006	3	MELK	9	36677318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87695	36677318	104536113	9664	17376											
PAX5	5079	broad.mit.edu	37	chr9	37002672	37002672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcttgcgcttgttggtgtCggcgctgggggacgtgatgc	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37002672C>T	ENST00000358127.4	-	5	651	c.577G>A	c.(577-579)Gac>Aac	p.D193N	PAX5_ENST00000377853.2_Missense_Mutation_p.D193N|PAX5_ENST00000520154.1_Missense_Mutation_p.D193N|PAX5_ENST00000446742.1_Missense_Mutation_p.D127N|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000523145.1_Missense_Mutation_p.D85N|PAX5_ENST00000522003.1_Missense_Mutation_p.D85N|PAX5_ENST00000377847.2_Missense_Mutation_p.D193N|PAX5_ENST00000377852.2_Missense_Mutation_p.D193N|PAX5_ENST00000523241.1_Missense_Mutation_p.D193N|PAX5_ENST00000414447.1_Intron	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	193					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(40)|p.D193>GGTRAN(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TTGTTGGTGTCGGCGCTGGGG	0.682			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								False	0	False	9:37002672	0	T	37002672	C	T	37002672	3	4	88	1	0	0	0	0	1	0	0	0	11550	884	31	1	622	1	PAX5	9	37002672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325354	37002672	104210759	9665	17377											
PAX5	5079	broad.mit.edu	37	chr9	37015015	37015015	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgatggaactgacgctaGgcacggtgtcattgtcacac	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37015015G>T	ENST00000358127.4	-	3	463	c.389C>A	c.(388-390)cCt>cAt	p.P130H	PAX5_ENST00000377853.2_Missense_Mutation_p.P130H|PAX5_ENST00000520154.1_Missense_Mutation_p.P130H|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.P130H|PAX5_ENST00000523145.1_Missense_Mutation_p.P22H|PAX5_ENST00000522003.1_Missense_Mutation_p.P22H|PAX5_ENST00000377847.2_Missense_Mutation_p.P130H|PAX5_ENST00000377852.2_Missense_Mutation_p.P130H|PAX5_ENST00000523241.1_Missense_Mutation_p.P130H|PAX5_ENST00000414447.1_Missense_Mutation_p.P130H	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	130	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		ACTGACGCTAGGCACGGTGTC	0.567			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								False	0	False	9:37015015	0	T	37015015	G	T	37015015	3	4	88	1	0	0	0	0	1	0	0	0	11550	1000	35	3	818	3	PAX5	9	37015015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12343	37015015	104198416	9666	17378											
ZBTB5	9925	broad.mit.edu	37	chr9	37441319	37441319	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctcttgttaagaaaattCgaaatactaaaagtggactt	7	6	1	1	rs138751675	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37441319C>T	ENST00000307750.4	-	2	1418	c.1230G>A	c.(1228-1230)tcG>tcA	p.S410S		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TAAGAAAATTCGAAATACTAA	0.393													False	0	False	9:37441319	0	T	37441319	C	T	37441319	2	4	88	1	0	0	0	0	0	0	0	1	17634	871	31	1		1	ZBTB5	9	37441319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	426304	37441319	103772112	9667	17379											
POLR1E	64425	broad.mit.edu	37	chr9	37498087	37498087	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttttcttttccttgttttaGccattgcacctttgtcatag	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37498087G>T	ENST00000377792.3	+	8	1226		c.e8-1		POLR1E_ENST00000377798.4_Splice_Site|POLR1E_ENST00000442009.2_Splice_Site			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa						rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCTTGTTTTAGCCATTGCACC	0.517													False	0	False	9:37498087	0	T	37498087	G	T	37498087	5	4	88	1	0	0	0	0	0	0	1	0	12282	985	34	3	786	3	POLR1E	9	37498087	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56768	37498087	103715344	9668	17380											
FBXO10	26267	broad.mit.edu	37	chr9	37537896	37537896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggacctggatgtgcccGttctcaaagttgcagttgtc	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37537896G>A	ENST00000432825.2	-	3	678	c.630C>T	c.(628-630)aaC>aaT	p.N210N	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	210						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GGATGTGCCCGTTCTCAAAGT	0.498													False	0	True	9:37537896	0	A	37537896	G	A	37537896	2	1	88	1	0	0	0	0	0	0	0	1	5766	1136	40	1		1	FBXO10	9	37537896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39809	37537896	103675535	9669	17381											
FRMPD1	22844	broad.mit.edu	37	chr9	37735568	37735568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttacaggatagagaatcctAcattgcccttctagttggag	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37735568A>G	ENST00000539465.1	+	13	1831	c.1238A>G	c.(1237-1239)tAc>tGc	p.Y413C	FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y282C|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y235C|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y413C			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	413	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGAGAATCCTACATTGCCCTT	0.438													False	0	False	9:37735568	0	G	37735568	A	G	37735568	3	3	88	1	0	0	0	0	1	0	0	0	6099	391	14	4	1284	4	FRMPD1	9	37735568	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	197672	37735568	103477863	9670	17382											
FRMPD1	22844	broad.mit.edu	37	chr9	37744622	37744622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctccctggagagtgtagacGacgtgtgctactatgacagg	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37744622G>A	ENST00000539465.1	+	16	3186	c.2593G>A	c.(2593-2595)Gac>Aac	p.D865N	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D865N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	865						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGTGTAGACGACGTGTGCTA	0.577													False	0	False	9:37744622	0	A	37744622	G	A	37744622	3	1	88	1	0	0	0	0	1	0	0	0	6099	1058	37	1	2651	1	FRMPD1	9	37744622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9054	37744622	103468809	9671	17383											
FRMPD1	22844	broad.mit.edu	37	chr9	37744962	37744962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaacccaggttcatctgGcccagatactgctcaggcaa	8	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37744962G>A	ENST00000539465.1	+	16	3526	c.2933G>A	c.(2932-2934)gGc>gAc	p.G978D	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G978D			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	978						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGTTCATCTGGCCCAGATACT	0.522													False	0	True	9:37744962	0	A	37744962	G	A	37744962	3	1	88	1	0	0	0	0	1	0	0	0	6099	1203	42	2	2991	2	FRMPD1	9	37744962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340	37744962	103468469	9672	17384											
FRMPD1	22844	broad.mit.edu	37	chr9	37745576	37745576	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccccctagagaccctcaaGgacagagcagagaaccccca	8	16	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37745576G>T	ENST00000539465.1	+	16	4140	c.3547G>T	c.(3547-3549)Gga>Tga	p.G1183*	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.G1183*			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1183						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGACCCTCAAGGACAGAGCAG	0.493													False	0	False	9:37745576	0	T	37745576	G	T	37745576	4	4	88	1	0	0	0	0	0	1	0	0	6099	1001	35	3	3605	3	FRMPD1	9	37745576	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	614	37745576	103467855	9673	17385											
EXOSC3	51010	broad.mit.edu	37	chr9	37782101	37782101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttccatgtctttattagCaaccacaaactggccataga	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37782101C>T	ENST00000327304.5	-	3	520	c.508G>A	c.(508-510)Gct>Act	p.A170T	RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000396521.3_Intron|EXOSC3_ENST00000490516.1_Intron	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	170					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		TCTTTATTAGCAACCACAAAC	0.423													False	0	False	9:37782101	0	T	37782101	C	T	37782101	3	4	88	1	0	0	0	0	1	0	0	0	5348	710	25	2	327	2	EXOSC3	9	37782101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36525	37782101	103431330	9674	17386											
SHB	6461	broad.mit.edu	37	chr9	37974723	37974723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctcccgcagtcgggggCtgactgtgctctccgagtct	13	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37974723C>T	ENST00000377707.3	-	3	1515	c.950G>A	c.(949-951)aGc>aAc	p.S317N	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	317	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CAGTCGGGGGCTGACTGTGCT	0.592													False	0	True	9:37974723	0	T	37974723	C	T	37974723	3	4	88	1	0	0	0	0	1	0	0	0	14349	797	28	2	595	2	SHB	9	37974723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192622	37974723	103238708	9675	17387											
ALDH1B1	219	broad.mit.edu	37	chr9	38396312	38396312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccgtggaacttccccttGgtcatgcagggttggaaact	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:38396312G>A	ENST00000377698.3	+	2	720	c.567G>A	c.(565-567)ttG>ttA	p.L189L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	189					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	ACTTCCCCTTGGTCATGCAGG	0.592													False	0	False	9:38396312	0	A	38396312	G	A	38396312	2	1	88	1	0	0	0	0	0	0	0	1	493	1339	47	2		2	ALDH1B1	9	38396312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421589	38396312	102817119	9676	17388											
CNTNAP3	79937	broad.mit.edu	37	chr9	39109231	39109231	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgcgtctgtcatcacaAtctgagtgactggcaggtgc	13	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39109231A>C	ENST00000297668.6	-	15	2364	c.2291T>G	c.(2290-2292)aTt>aGt	p.I764S	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I763S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I676S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	764	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTCATCACAATCTGAGTGAC	0.453													False	0	False	9:39109231	0	C	39109231	A	C	39109231	3	2	88	1	0	0	0	0	1	0	0	0	3671	101	4	4	1615	4	CNTNAP3	9	39109231	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	712919	39109231	102104200	9677	17389											
CNTNAP3	79937	broad.mit.edu	37	chr9	39133078	39133078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgcccgctgggggcacctCggagggtcaccgcgtcgggg	20	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39133078C>T	ENST00000297668.6	-	13	2004	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R643Q|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R550Q|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R556Q	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	644	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGGGCACCTCGGAGGGTCAC	0.731													False	0	False	9:39133078	0	T	39133078	C	T	39133078	3	4	88	1	0	0	0	0	1	0	0	0	3671	884	31	1	1983	1	CNTNAP3	9	39133078	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23847	39133078	102080353	9678	17390											
CNTNAP3	79937	broad.mit.edu	37	chr9	39133095	39133095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggagggtcaccgcgtcGgggccaccgtgctgcaccac	14	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39133095G>A	ENST00000297668.6	-	13	1987	c.1914C>T	c.(1912-1914)ccC>ccT	p.P638P	CNTNAP3_ENST00000377656.2_Silent_p.P637P|CNTNAP3_ENST00000377659.1_Silent_p.P637P|CNTNAP3_ENST00000323947.7_Silent_p.P544P|CNTNAP3_ENST00000358144.2_Silent_p.P550P	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	638	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCACCGCGTCGGGGCCACCGT	0.711													False	0	True	9:39133095	0	A	39133095	G	A	39133095	2	1	88	1	0	0	0	0	0	0	0	1	3671	1103	39	1		1	CNTNAP3	9	39133095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	39133095	102080336	9679	17391											
CNTNAP3	79937	broad.mit.edu	37	chr9	39140635	39140635	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaagactgctcgtagagaGctgtaggagaacaccagcca	11	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39140635G>T	ENST00000297668.6	-	12	1830	c.1757C>A	c.(1756-1758)tCt>tAt	p.S586Y	CNTNAP3_ENST00000377656.2_Splice_Site_p.S586Y|CNTNAP3_ENST00000377659.1_Splice_Site_p.S586Y|CNTNAP3_ENST00000323947.7_Splice_Site_p.A493D|CNTNAP3_ENST00000358144.2_Splice_Site_p.S498Y	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	586	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTCGTAGAGAGCTGTAGGAGA	0.463													False	0	True	9:39140635	0	T	39140635	G	T	39140635	5	4	88	1	0	0	0	0	0	0	1	0	3671	985	34	3	2161	3	CNTNAP3	9	39140635	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7540	39140635	102072796	9680	17392											
CNTNAP3	79937	broad.mit.edu	37	chr9	39149958	39149958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttacatccagagccagaGctgttgtccaggcagcctaa	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39149958G>A	ENST00000297668.6	-	10	1567	c.1494C>T	c.(1492-1494)agC>agT	p.S498S	CNTNAP3_ENST00000377656.2_Silent_p.S498S|CNTNAP3_ENST00000377659.1_Silent_p.S498S|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000358144.2_Silent_p.S410S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	498	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGAGCCAGAGCTGTTGTCCA	0.463													False	0	False	9:39149958	0	A	39149958	G	A	39149958	2	1	88	1	0	0	0	0	0	0	0	1	3671	962	34	2		2	CNTNAP3	9	39149958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9323	39149958	102063473	9681	17393											
CBWD6	644019	broad.mit.edu	37	chr9	69238239	69238239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattttgtacctaagtgtcGttcttaatttctttacatct	4	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:69238239G>A	ENST00000377457.5	-	8	758	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CBWD6_ENST00000382399.4_Missense_Mutation_p.T198M|CBWD6_ENST00000377449.1_Missense_Mutation_p.T182M	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	218							ATP binding			lung(4)	4						CCTAAGTGTCGTTCTTAATTT	0.338													False	0	False	9:69238239	0	A	69238239	G	A	69238239	3	1	88	1	0	0	0	0	1	0	0	0	2736	1145	40	1	566	1	CBWD6	9	69238239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30088281	69238239	71975192	9682	17394											
PGM5	5239	broad.mit.edu	37	chr9	71098868	71098868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagacaaatccttcattggCcagcagtttgctgtggggag	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71098868C>T	ENST00000396396.1	+	9	1612	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	461					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCTTCATTGGCCAGCAGTTTG	0.517													False	0	False	9:71098868	0	T	71098868	C	T	71098868	2	4	88	1	0	0	0	0	0	0	0	1	11870	726	26	2		2	PGM5	9	71098868	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1860629	71098868	70114563	9683	17395											
PIP5K1B	8395	broad.mit.edu	37	chr9	71532675	71532675	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcacagagaacccagacaCgtaagtgcagccacacacct	7	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71532675C>T	ENST00000265382.3	+	9	1288	c.983C>T	c.(982-984)aCa>aTa	p.T328I	PIP5K1B_ENST00000541509.1_Splice_Site_p.T328I	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	328	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AACCCAGACACGTAAGTGCAG	0.517													False	0	False	9:71532675	0	T	71532675	C	T	71532675	5	4	88	1	0	0	0	0	0	0	1	0	12009	550	19	1	1005	1	PIP5K1B	9	71532675	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	433807	71532675	69680756	9684	17396											
PIP5K1B	8395	broad.mit.edu	37	chr9	71555571	71555571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcgttcctagccctgggatCccgacacaggccagacctgg	11	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71555571C>T	ENST00000265382.3	+	14	1672	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.S456F	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	456						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GCCCTGGGATCCCGACACAGG	0.433													False	0	True	9:71555571	0	T	71555571	C	T	71555571	3	4	88	1	0	0	0	0	1	0	0	0	12009	855	30	2	1409	2	PIP5K1B	9	71555571	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22896	71555571	69657860	9685	17397											
PIP5K1B	8395	broad.mit.edu	37	chr9	71555659	71555659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcatcttcttccttataCgtcaatgagcactatccaca	3	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71555659C>T	ENST00000265382.3	+	14	1760	c.1455C>T	c.(1453-1455)taC>taT	p.Y485Y	PIP5K1B_ENST00000541509.1_Silent_p.Y485Y	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	485						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTTCCTTATACGTCAATGAGC	0.473													False	0	False	9:71555659	0	T	71555659	C	T	71555659	2	4	88	1	0	0	0	0	0	0	0	1	12009	547	19	1		1	PIP5K1B	9	71555659	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	71555659	69657772	9686	17398											
PRKACG	5568	broad.mit.edu	37	chr9	71628475	71628475	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgtcacctgcaggtagccCtgctggtcgatgaggagatt	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71628475C>A	ENST00000377276.2	-	1	564	c.534G>T	c.(532-534)caG>caT	p.Q178H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	178	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCAGGTAGCCCTGCTGGTCGA	0.632													False	0	True	9:71628475	0	A	71628475	C	A	71628475	3	1	88	1	0	0	0	0	1	0	0	0	12575	680	24	3	525	3	PRKACG	9	71628475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72816	71628475	69584956	9687	17399											
PRKACG	5568	broad.mit.edu	37	chr9	71628546	71628546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgagtgtaggtactggaCggccaggacgacctgggcgg	19	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71628546C>T	ENST00000377276.2	-	1	493	c.463G>A	c.(463-465)Gtc>Atc	p.V155I		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	155	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGTACTGGACGGCCAGGACG	0.622													False	0	False	9:71628546	0	T	71628546	C	T	71628546	3	4	88	1	0	0	0	0	1	0	0	0	12575	536	19	1	596	1	PRKACG	9	71628546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71	71628546	69584885	9688	17400											
TJP2	9414	broad.mit.edu	37	chr9	71851087	71851087	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacactgtatgacggcaagCtgggcaactggctggctgtg	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71851087C>A	ENST00000377245.4	+	13	2132	c.1924C>A	c.(1924-1926)Ctg>Atg	p.L642M	TJP2_ENST00000453658.2_Missense_Mutation_p.L619M|TJP2_ENST00000535702.1_Missense_Mutation_p.L646M|TJP2_ENST00000348208.4_Missense_Mutation_p.L642M|TJP2_ENST00000539225.1_Missense_Mutation_p.L673M|TJP2_ENST00000265384.7_Missense_Mutation_p.L642M	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	642	SH3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TGACGGCAAGCTGGGCAACTG	0.507													False	0	False	9:71851087	0	A	71851087	C	A	71851087	3	1	88	1	0	0	0	0	1	0	0	0	16012	796	28	3	2131	3	TJP2	9	71851087	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222541	71851087	69362344	9689	17401											
TJP2	9414	broad.mit.edu	37	chr9	71861684	71861684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcatcagcaaggagaagCggtttgggtctctgaaggaa	14	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71861684C>T	ENST00000377245.4	+	18	2853	c.2645C>T	c.(2644-2646)gCg>gTg	p.A882V	TJP2_ENST00000453658.2_Missense_Mutation_p.A859V|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000535702.1_Missense_Mutation_p.A886V|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V|TJP2_ENST00000265384.7_Missense_Mutation_p.A882V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	882					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAAGGAGAAGCGGTTTGGGTC	0.418													False	0	False	9:71861684	0	T	71861684	C	T	71861684	3	4	88	1	0	0	0	0	1	0	0	0	16012	768	27	1	2872	1	TJP2	9	71861684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10597	71861684	69351747	9690	17402											
TJP2	9414	broad.mit.edu	37	chr9	71863050	71863050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacggacggtgaaggaggCgcctacactgacaatgagct	14	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71863050C>T	ENST00000377245.4	+	19	2998	c.2790C>T	c.(2788-2790)ggC>ggT	p.G930G	TJP2_ENST00000453658.2_Silent_p.G907G|TJP2_ENST00000535702.1_Silent_p.G934G|TJP2_ENST00000348208.4_Silent_p.G930G|TJP2_ENST00000539225.1_Silent_p.G961G|TJP2_ENST00000265384.7_Silent_p.G930G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	930					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	p.G930G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GTGAAGGAGGCGCCTACACTG	0.622													False	0	False	9:71863050	0	T	71863050	C	T	71863050	2	4	88	1	0	0	0	0	0	0	0	1	16012	755	27	1		1	TJP2	9	71863050	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1366	71863050	69350381	9691	17403											
TJP2	9414	broad.mit.edu	37	chr9	71869243	71869243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtcagaacactccaagCgcggttactatggccagtct	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71869243C>T	ENST00000377245.4	+	23	3734	c.3526C>T	c.(3526-3528)Cgc>Tgc	p.R1176C	TJP2_ENST00000453658.2_Missense_Mutation_p.R1006C|TJP2_ENST00000535702.1_Missense_Mutation_p.R1143C|TJP2_ENST00000348208.4_Missense_Mutation_p.R1029C|TJP2_ENST00000539225.1_Missense_Mutation_p.R1207C	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1176					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACACTCCAAGCGCGGTTACTA	0.552													False	0	False	9:71869243	0	T	71869243	C	T	71869243	3	4	88	1	0	0	0	0	1	0	0	0	16012	768	27	1	3875	1	TJP2	9	71869243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6193	71869243	69344188	9692	17404											
APBA1	320	broad.mit.edu	37	chr9	72064647	72064647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatcacggtggggaggatGgatccccagccagactccac	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72064647G>A	ENST00000265381.4	-	10	2256	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	678	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGGGGAGGATGGATCCCCAGC	0.478													False	0	True	9:72064647	0	A	72064647	G	A	72064647	2	1	88	1	0	0	0	0	0	0	0	1	758	1335	47	2		2	APBA1	9	72064647	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195404	72064647	69148784	9693	17405											
APBA1	320	broad.mit.edu	37	chr9	72067200	72067200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaaatgcctgtccgatggaCtgtgcaatcagctgagcctg	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72067200C>A	ENST00000265381.4	-	9	2028	c.1806G>T	c.(1804-1806)caG>caT	p.Q602H		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	602	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCCGATGGACTGTGCAATCA	0.557													False	0	False	9:72067200	0	A	72067200	C	A	72067200	3	1	88	1	0	0	0	0	1	0	0	0	758	564	20	3	727	3	APBA1	9	72067200	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2553	72067200	69146231	9694	17406											
APBA1	320	broad.mit.edu	37	chr9	72071981	72071981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatacctgtgtgtcggcGttcagcactttgattctctg	11	10	2	2	rs144906159	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72071981G>A	ENST00000265381.4	-	7	1812	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	530	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTGTGTCGGCGTTCAGCACTT	0.483													False	0	False	9:72071981	0	A	72071981	G	A	72071981	2	1	88	1	0	0	0	0	0	0	0	1	758	1136	40	1		1	APBA1	9	72071981	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4781	72071981	69141450	9695	17407											
APBA1	320	broad.mit.edu	37	chr9	72131056	72131056	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcctggttttcacctcctcGatggcctccttgatgtcctt	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72131056G>A	ENST00000265381.4	-	2	1293	c.1071C>T	c.(1069-1071)atC>atT	p.I357I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	357					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCACCTCCTCGATGGCCTCCT	0.662													False	0	False	9:72131056	0	A	72131056	G	A	72131056	2	1	88	1	0	0	0	0	0	0	0	1	758	1048	37	1		1	APBA1	9	72131056	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59075	72131056	69082375	9696	17408											
PTAR1	375743	broad.mit.edu	37	chr9	72347116	72347116	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatgggaccaagcattatagTtgcttgggtatctccctgct	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72347116T>A	ENST00000377200.5	-	3	346	c.344A>T	c.(343-345)aAc>aTc	p.N115I	PTAR1_ENST00000340434.4_Missense_Mutation_p.N194I			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	194					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						AGCATTATAGTTGCTTGGGTA	0.493													False	0	False	9:72347116	0	A	72347116	T	A	72347116	3	1	88	1	0	0	0	0	1	0	0	0	12800	1725	60	5	643	5	PTAR1	9	72347116	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	216060	72347116	68866315	9697	17409											
MAMDC2	256691	broad.mit.edu	37	chr9	72741317	72741317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggaggtcgagttcagtgctCcttaccccatggaggtaggt	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72741317C>T	ENST00000377182.4	+	6	1503	c.886C>T	c.(886-888)Cct>Tct	p.P296S	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	296	MAM 2.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTTCAGTGCTCCTTACCCCAT	0.572													False	0	False	9:72741317	0	T	72741317	C	T	72741317	3	4	88	1	0	0	0	0	1	0	0	0	9270	855	30	2	908	2	MAMDC2	9	72741317	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	394201	72741317	68472114	9698	17410											
MAMDC2	256691	broad.mit.edu	37	chr9	72833493	72833493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgagcactgattgaatacaGctgtgagaggcaacaccagg	12	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72833493G>T	ENST00000377182.4	+	12	2509	c.1892G>T	c.(1891-1893)aGc>aTc	p.S631I	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	631	MAM 4.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						ATTGAATACAGCTGTGAGAGG	0.428													False	0	False	9:72833493	0	T	72833493	G	T	72833493	3	4	88	1	0	0	0	0	1	0	0	0	9270	971	34	3	1938	3	MAMDC2	9	72833493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92176	72833493	68379938	9699	17411											
SMC5	23137	broad.mit.edu	37	chr9	72965133	72965133	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaggtgaaagaagtgTttctaccatgttatacttga	11	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72965133T>G	ENST00000361138.5	+	23	3051	c.2993T>G	c.(2992-2994)gTt>gGt	p.V998G	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	998	Ala/Asp-rich (DA-box).				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GAAAGAAGTGTTTCTACCATG	0.353													False	0	True	9:72965133	0	G	72965133	T	G	72965133	3	3	88	1	0	0	0	0	1	0	0	0	14866	1725	60	4	3083	4	SMC5	9	72965133	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	131640	72965133	68248298	9700	17412											
TRPM3	80036	broad.mit.edu	37	chr9	73151789	73151789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atccatagcagagacatagaTgtctatacacgatgatggtc	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73151789T>C	ENST00000377110.3	-	25	4447	c.4204A>G	c.(4204-4206)Atc>Gtc	p.I1402V	TRPM3_ENST00000423814.3_Missense_Mutation_p.I1429V|TRPM3_ENST00000396292.4_Missense_Mutation_p.I1274V|TRPM3_ENST00000377106.1_Missense_Mutation_p.I1274V|TRPM3_ENST00000396285.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000360823.2_Missense_Mutation_p.I1264V|TRPM3_ENST00000377105.1_Missense_Mutation_p.I1261V|TRPM3_ENST00000357533.2_Missense_Mutation_p.I1406V|TRPM3_ENST00000358082.3_Missense_Mutation_p.I1264V|TRPM3_ENST00000396280.5_Missense_Mutation_p.I1251V|TRPM3_ENST00000408909.2_Missense_Mutation_p.I1261V|TRPM3_ENST00000377111.2_Intron			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGACATAGATGTCTATACAC	0.498													False	0	False	9:73151789	0	C	73151789	T	C	73151789	3	2	88	1	0	0	0	0	1	0	0	0	16670	1464	51	4	923	4	TRPM3	9	73151789	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	186656	73151789	68061642	9701	17413											
TRPM3	80036	broad.mit.edu	37	chr9	73213583	73213583	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttccctggctctgacatcaGaatctataaggcaggaagga	10	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73213583G>T	ENST00000377110.3	-	20	3007	c.2764C>A	c.(2764-2766)Ctg>Atg	p.L922M	TRPM3_ENST00000423814.3_Missense_Mutation_p.L949M|TRPM3_ENST00000396292.4_Missense_Mutation_p.L794M|TRPM3_ENST00000377106.1_Missense_Mutation_p.L794M|TRPM3_ENST00000396285.1_Missense_Mutation_p.L769M|TRPM3_ENST00000360823.2_Missense_Mutation_p.L784M|TRPM3_ENST00000377105.1_Missense_Mutation_p.L781M|TRPM3_ENST00000357533.2_Missense_Mutation_p.L926M|TRPM3_ENST00000358082.3_Missense_Mutation_p.L784M|TRPM3_ENST00000396280.5_Missense_Mutation_p.L771M|TRPM3_ENST00000408909.2_Missense_Mutation_p.L781M|TRPM3_ENST00000377111.2_Missense_Mutation_p.L922M			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCTGACATCAGAATCTATAAG	0.488													False	0	False	9:73213583	0	T	73213583	G	T	73213583	3	4	88	1	0	0	0	0	1	0	0	0	16670	933	33	3	2383	3	TRPM3	9	73213583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61794	73213583	67999848	9702	17414											
TRPM3	80036	broad.mit.edu	37	chr9	73230953	73230953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttgttcttgaactccaaGctgagaattgaaggaggaag	11	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73230953G>T	ENST00000377110.3	-	17	2604	c.2361C>A	c.(2359-2361)agC>agA	p.S787R	TRPM3_ENST00000423814.3_Missense_Mutation_p.S814R|TRPM3_ENST00000396292.4_Missense_Mutation_p.S659R|TRPM3_ENST00000377106.1_Missense_Mutation_p.S659R|TRPM3_ENST00000396285.1_Missense_Mutation_p.S634R|TRPM3_ENST00000360823.2_Missense_Mutation_p.S649R|TRPM3_ENST00000377105.1_Missense_Mutation_p.S646R|TRPM3_ENST00000357533.2_Missense_Mutation_p.S791R|TRPM3_ENST00000358082.3_Missense_Mutation_p.S649R|TRPM3_ENST00000396280.5_Missense_Mutation_p.S636R|TRPM3_ENST00000408909.2_Missense_Mutation_p.S646R|TRPM3_ENST00000377111.2_Missense_Mutation_p.S787R			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGAACTCCAAGCTGAGAATTG	0.398													False	0	False	9:73230953	0	T	73230953	G	T	73230953	3	4	88	1	0	0	0	0	1	0	0	0	16670	962	34	3	2798	3	TRPM3	9	73230953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17370	73230953	67982478	9703	17415											
TRPM3	80036	broad.mit.edu	37	chr9	73233803	73233803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaggcctgagttcttgcGcatgcggagccggcccatcc	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73233803G>A	ENST00000377110.3	-	16	2545	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	TRPM3_ENST00000423814.3_Missense_Mutation_p.R795C|TRPM3_ENST00000396292.4_Missense_Mutation_p.R640C|TRPM3_ENST00000377106.1_Missense_Mutation_p.R640C|TRPM3_ENST00000396285.1_Missense_Mutation_p.R615C|TRPM3_ENST00000360823.2_Missense_Mutation_p.R630C|TRPM3_ENST00000377105.1_Missense_Mutation_p.R627C|TRPM3_ENST00000357533.2_Missense_Mutation_p.R772C|TRPM3_ENST00000358082.3_Missense_Mutation_p.R630C|TRPM3_ENST00000396280.5_Missense_Mutation_p.R617C|TRPM3_ENST00000408909.2_Missense_Mutation_p.R627C|TRPM3_ENST00000377111.2_Missense_Mutation_p.R768C			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGTTCTTGCGCATGCGGAGC	0.622													False	0	False	9:73233803	0	A	73233803	G	A	73233803	3	1	88	1	0	0	0	0	1	0	0	0	16670	1087	38	1	2861	1	TRPM3	9	73233803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2850	73233803	67979628	9704	17416											
TRPM3	80036	broad.mit.edu	37	chr9	73426137	73426137	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaataaaacaagcgggagtCaagagagaaaaacggcaggc	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73426137C>T	ENST00000377106.1	-	7	892	c.538G>A	c.(538-540)Gac>Aac	p.D180N	TRPM3_ENST00000423814.3_Missense_Mutation_p.D335N|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000396292.4_Missense_Mutation_p.D180N|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000360823.2_Missense_Mutation_p.D180N|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000396283.1_Missense_Mutation_p.D180N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D180N|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000361823.5_Intron	NM_020952.4|NM_206946.3	NP_066003.3|NP_996829.3	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	333						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGCGGGAGTCAAGAGAGAAA	0.353													False	0	False	9:73426137	0	T	73426137	C	T	73426137	3	4	88	1	0	0	0	0	1	0	0	0	16670	826	29	2	4325	2	TRPM3	9	73426137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192334	73426137	67787294	9705	17417											
TMEM2	23670	broad.mit.edu	37	chr9	74337391	74337391	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccttgggtcagcagcactaGagttggttgttttgacacct	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74337391G>T	ENST00000377044.4	-	12	2758	c.2219C>A	c.(2218-2220)tCt>tAt	p.S740Y	TMEM2_ENST00000377066.5_Missense_Mutation_p.S677Y	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	740						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGCAGCACTAGAGTTGGTTGT	0.378													False	0	False	9:74337391	0	T	74337391	G	T	74337391	3	4	88	1	0	0	0	0	1	0	0	0	16203	942	33	3	1984	3	TMEM2	9	74337391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	911254	74337391	66876040	9706	17418											
ZFAND5	0	broad.mit.edu	37	chr9	74971957	74971957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggctgagaaactgatggaCtgggctgagtgacaactgaa	15	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74971957C>A	ENST00000237937.3	-	5	940	c.383G>T	c.(382-384)aGt>aTt	p.S128I	ZFAND5_ENST00000343431.2_Missense_Mutation_p.S128I|ZFAND5_ENST00000376960.4_Missense_Mutation_p.S128I|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Missense_Mutation_p.S128I	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	128							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						AACTGATGGACTGGGCTGAGT	0.378													False	0	False	9:74971957	0	A	74971957	C	A	74971957	3	1	88	1	0	0	0	0	1	0	0	0	17713	565	20	3	266	3	ZFAND5	9	74971957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	634566	74971957	66241474	9707	17419											
ZFAND5	0	broad.mit.edu	37	chr9	74975027	74975027	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaacgttcaatcttaccTtgatttttcagatgtgctgc	7	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74975027T>C	ENST00000237937.3	-	3	819	c.262A>G	c.(262-264)Aga>Gga	p.R88G	ZFAND5_ENST00000343431.2_Splice_Site_p.R88G|ZFAND5_ENST00000376960.4_Splice_Site_p.R88G|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Splice_Site_p.R88G	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	88							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						CAATCTTACCTTGATTTTTCA	0.393													False	0	False	9:74975027	0	C	74975027	T	C	74975027	5	2	88	1	0	0	0	0	0	0	1	0	17713	1623	56	4	395	4	ZFAND5	9	74975027	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3070	74975027	66238404	9708	17420											
ANXA1	301	broad.mit.edu	37	chr9	75775219	75775219	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcccttacaggtcaccTtgaggaggttgttttagctc	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:75775219T>C	ENST00000376911.1	+	4	1193	c.311T>C	c.(310-312)cTt>cCt	p.L104P	ANXA1_ENST00000257497.6_Missense_Mutation_p.L104P			P04083	ANXA1_HUMAN	annexin A1	104					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	ACAGGTCACCTTGAGGAGGTT	0.413													False	0	False	9:75775219	0	C	75775219	T	C	75775219	3	2	88	1	0	0	0	0	1	0	0	0	714	1609	56	4	325	4	ANXA1	9	75775219	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	800192	75775219	65438212	9709	17421											
RORB	6096	broad.mit.edu	37	chr9	77245232	77245232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccatgcaaaatttgtggCgataagtcctctgggatcca	9	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77245232C>T	ENST00000376896.3	+	2	654	c.42C>T	c.(40-42)ggC>ggT	p.G14G	RORB_ENST00000396204.2_Silent_p.G25G	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B						eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						AAATTTGTGGCGATAAGTCCT	0.428													False	0	False	9:77245232	0	T	77245232	C	T	77245232	2	4	88	1	0	0	0	0	0	0	0	1	13608	755	27	1		1	RORB	9	77245232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1470013	77245232	63968199	9710	17422											
TRPM6	140803	broad.mit.edu	37	chr9	77354718	77354718	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggaagaaaggacttgAcaatgaaaacttgtcccggc	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77354718A>G	ENST00000451710.3	-	33	5657	c.5420T>C	c.(5419-5421)gTc>gCc	p.V1807A	TRPM6_ENST00000449912.2_Missense_Mutation_p.V1798A|TRPM6_ENST00000360774.1_Missense_Mutation_p.V1803A|TRPM6_ENST00000376871.3_Missense_Mutation_p.V640A|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1807A|TRPM6_ENST00000376872.3_Missense_Mutation_p.V758A|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1798A			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1803	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAGGACTTGACAATGAAAAC	0.498													False	0	False	9:77354718	0	G	77354718	A	G	77354718	3	3	88	1	0	0	0	0	1	0	0	0	16673	275	10	4	684	4	TRPM6	9	77354718	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	109486	77354718	63858713	9711	17423											
TRPM6	140803	broad.mit.edu	37	chr9	77354846	77354846	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcattgccgctctcccacgCtgagaccaagaggacatgct	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77354846C>A	ENST00000451710.3	-	33	5529	c.5292G>T	c.(5290-5292)caG>caT	p.Q1764H	TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1755H|TRPM6_ENST00000360774.1_Missense_Mutation_p.Q1760H|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q597H|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1764H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q715H|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1755H			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1760	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCTCCCACGCTGAGACCAAG	0.502													False	0	False	9:77354846	0	A	77354846	C	A	77354846	3	1	88	1	0	0	0	0	1	0	0	0	16673	796	28	3	812	3	TRPM6	9	77354846	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128	77354846	63858585	9712	17424											
TRPM6	140803	broad.mit.edu	37	chr9	77377222	77377222	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcaccttctgaaaatgcCcagtttacatatccacctcc	3	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77377222C>T	ENST00000451710.3	-	26	4602	c.4365G>A	c.(4363-4365)tgG>tgA	p.W1455*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W1450*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.W1455*|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W1450*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1455					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGAAAATGCCCAGTTTACAT	0.473													False	0	True	9:77377222	0	T	77377222	C	T	77377222	4	4	88	1	0	0	0	0	0	1	0	0	16673	624	22	2	1759	2	TRPM6	9	77377222	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22376	77377222	63836209	9713	17425											
TRPM6	140803	broad.mit.edu	37	chr9	77416926	77416926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacggctttaaccgtggcctCctctccatgctgccagaaga	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77416926C>T	ENST00000451710.3	-	16	2134	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	TRPM6_ENST00000449912.2_Missense_Mutation_p.E628K|TRPM6_ENST00000360774.1_Missense_Mutation_p.E633K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.E633K|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.E628K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	633					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACCGTGGCCTCCTCTCCATGC	0.502													False	0	False	9:77416926	0	T	77416926	C	T	77416926	3	4	88	1	0	0	0	0	1	0	0	0	16673	864	30	2	4267	2	TRPM6	9	77416926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39704	77416926	63796505	9714	17426											
TRPM6	140803	broad.mit.edu	37	chr9	77422987	77422987	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgttgtagagggctctgAaatgttttctagtgtagttg	14	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77422987A>C	ENST00000451710.3	-	14	1838	c.1601T>G	c.(1600-1602)tTc>tGc	p.F534C	TRPM6_ENST00000449912.2_Missense_Mutation_p.F529C|TRPM6_ENST00000360774.1_Missense_Mutation_p.F534C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.F534C|TRPM6_ENST00000376872.3_Missense_Mutation_p.F534C|TRPM6_ENST00000361255.3_Missense_Mutation_p.F529C			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	534					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAGGGCTCTGAAATGTTTTCT	0.368													False	0	True	9:77422987	0	C	77422987	A	C	77422987	3	2	88	1	0	0	0	0	1	0	0	0	16673	246	9	4	4571	4	TRPM6	9	77422987	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6061	77422987	63790444	9715	17427											
TRPM6	140803	broad.mit.edu	37	chr9	77427277	77427277	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggaggttcactccatattCtattaagagcttcacaaaat	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77427277C>A	ENST00000451710.3	-	12	1618	c.1381G>T	c.(1381-1383)Gaa>Taa	p.E461*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.E456*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.E461*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.E461*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.E456*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	461					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTCCATATTCTATTAAGAGC	0.413													False	0	False	9:77427277	0	A	77427277	C	A	77427277	4	1	88	1	0	0	0	0	0	1	0	0	16673	922	32	3	4799	3	TRPM6	9	77427277	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4290	77427277	63786154	9716	17428											
TRPM6	140803	broad.mit.edu	37	chr9	77431663	77431663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccattgccagatttaattgCtctgacgctgataaatttgt	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77431663C>A	ENST00000451710.3	-	11	1467	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	TRPM6_ENST00000449912.2_Missense_Mutation_p.E405D|TRPM6_ENST00000360774.1_Missense_Mutation_p.E410D|TRPM6_ENST00000376871.3_Missense_Mutation_p.E410D|TRPM6_ENST00000376864.4_Missense_Mutation_p.E410D|TRPM6_ENST00000376872.3_Missense_Mutation_p.E410D|TRPM6_ENST00000361255.3_Missense_Mutation_p.E405D			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	410					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GATTTAATTGCTCTGACGCTG	0.368													False	0	False	9:77431663	0	A	77431663	C	A	77431663	3	1	88	1	0	0	0	0	1	0	0	0	16673	796	28	3	4954	3	TRPM6	9	77431663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4386	77431663	63781768	9717	17429											
C9orf41	138199	broad.mit.edu	37	chr9	77611376	77611376	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttacctagatttatccaAattccacctggcttgagtat	5	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77611376A>C	ENST00000376834.3	-	6	1163	c.1011T>G	c.(1009-1011)atT>atG	p.I337M	C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	337										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GATTTATCCAAATTCCACCTG	0.308													False	0	True	9:77611376	0	C	77611376	A	C	77611376	3	2	88	1	0	0	0	0	1	0	0	0	2502	10	1	4	230	4	C9orf41	9	77611376	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	179713	77611376	63602055	9718	17430											
C9orf41	138199	broad.mit.edu	37	chr9	77613623	77613623	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagatgggtcgaatctgatcAgctgatctccggttattgct	11	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77613623A>G	ENST00000376834.3	-	5	953	c.801T>C	c.(799-801)gcT>gcC	p.A267A	C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	267										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GAATCTGATCAGCTGATCTCC	0.363													False	0	False	9:77613623	0	G	77613623	A	G	77613623	2	3	88	1	0	0	0	0	0	0	0	1	2502	175	7	4		4	C9orf41	9	77613623	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2247	77613623	63599808	9719	17431											
PCSK5	5125	broad.mit.edu	37	chr9	78506218	78506218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctacaccaaccactgggcaGtcaaaatcgccgggggcttc	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78506218G>A	ENST00000545128.1	+	1	659	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	PCSK5_ENST00000376767.3_Missense_Mutation_p.V41I|PCSK5_ENST00000376752.4_Missense_Mutation_p.V41I	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	41					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCACTGGGCAGTCAAAATCGC	0.637													False	0	False	9:78506218	0	A	78506218	G	A	78506218	3	1	88	1	0	0	0	0	1	0	0	0	11671	1029	36	2	123	2	PCSK5	9	78506218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	892595	78506218	62707213	9720	17432											
PCSK5	5125	broad.mit.edu	37	chr9	78771994	78771994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatttggactgatggacgCagaagccatggtgatggagg	17	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78771994C>T	ENST00000545128.1	+	11	1884	c.1346C>T	c.(1345-1347)gCa>gTa	p.A449V	PCSK5_ENST00000376752.4_Missense_Mutation_p.A449V|PCSK5_ENST00000376767.3_Missense_Mutation_p.A449V	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	449	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGATGGACGCAGAAGCCATG	0.507													False	0	False	9:78771994	0	T	78771994	C	T	78771994	3	4	88	1	0	0	0	0	1	0	0	0	11671	710	25	2	1388	2	PCSK5	9	78771994	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	265776	78771994	62441437	9721	17433											
PCSK5	5125	broad.mit.edu	37	chr9	78804038	78804038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatgggtgcattaactgCacagagggctacttcatgga	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78804038C>T	ENST00000545128.1	+	19	2947	c.2409C>T	c.(2407-2409)tgC>tgT	p.C803C	PCSK5_ENST00000376752.4_Silent_p.C803C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	803	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATTAACTGCACAGAGGGCT	0.458													False	0	False	9:78804038	0	T	78804038	C	T	78804038	2	4	88	1	0	0	0	0	0	0	0	1	11671	718	25	2		2	PCSK5	9	78804038	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32044	78804038	62409393	9722	17434											
PCSK5	5125	broad.mit.edu	37	chr9	78947380	78947380	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggactgcccagagggCtattatgccgatgaggacag	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78947380C>A	ENST00000545128.1	+	33	5059	c.4521C>A	c.(4519-4521)ggC>ggA	p.G1507G		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	677					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCCCAGAGGGCTATTATGCCG	0.542													False	0	True	9:78947380	0	A	78947380	C	A	78947380	2	1	88	1	0	0	0	0	0	0	0	1	11671	812	28	3		3	PCSK5	9	78947380	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143342	78947380	62266051	9723	17435											
PCSK5	5125	broad.mit.edu	37	chr9	78973444	78973444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagacgaatgcatccttcGaacaagcaaggttaggcctg	10	10	0	1	rs141281372	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78973444G>A	ENST00000545128.1	+	37	5727	c.5189G>A	c.(5188-5190)cGa>cAa	p.R1730Q		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCATCCTTCGAACAAGCAAG	0.458													False	0	False	9:78973444	0	A	78973444	G	A	78973444	3	1	88	1	0	0	0	0	1	0	0	0	11671	1073	37	1		1	PCSK5	9	78973444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26064	78973444	62239987	9724	17436											
RFK	55312	broad.mit.edu	37	chr9	79003496	79003496	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcaaagttcttttctggtCtcaggtagccaacaatggcc	8	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79003496C>T	ENST00000376736.1	-	3	644	c.311G>A	c.(310-312)aGa>aAa	p.R104K	RFK_ENST00000479197.1_5'UTR	NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase	104					riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity			pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	CTTTTCTGGTCTCAGGTAGCC	0.368													False	0	False	9:79003496	0	T	79003496	C	T	79003496	3	4	88	1	0	0	0	0	1	0	0	0	13330	913	32	2	164	2	RFK	9	79003496	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30052	79003496	62209935	9725	17437											
GCNT1	2650	broad.mit.edu	37	chr9	79118164	79118164	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttctggcagtgcctacttCgtggtcagtagggagtatgt	13	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79118164C>T	ENST00000442371.1	+	3	1806	c.867C>T	c.(865-867)ttC>ttT	p.F289F	GCNT1_ENST00000444201.2_Silent_p.F289F|GCNT1_ENST00000536223.1_Silent_p.F289F|GCNT1_ENST00000376730.4_Silent_p.F289F	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	289	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.F289F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GTGCCTACTTCGTGGTCAGTA	0.458													False	0	False	9:79118164	0	T	79118164	C	T	79118164	2	4	88	1	0	0	0	0	0	0	0	1	6343	883	31	1		1	GCNT1	9	79118164	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114668	79118164	62095267	9726	17438											
PRUNE2	158471	broad.mit.edu	37	chr9	79253164	79253164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctggcagaaaacaggcGgcaaacacaatgatggcatt	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79253164G>A	ENST00000428286.1	-	13	8895	c.7695C>T	c.(7693-7695)gcC>gcT	p.A2565A	PRUNE2_ENST00000223609.6_Silent_p.A188A|PRUNE2_ENST00000443509.2_Silent_p.A172A|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000376718.3_Silent_p.A2923A			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2923					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAAAACAGGCGGCAAACACAA	0.418													False	0	False	9:79253164	0	A	79253164	G	A	79253164	2	1	88	1	0	0	0	0	0	0	0	1	12717	1103	39	1		1	PRUNE2	9	79253164	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135000	79253164	61960267	9727	17439											
PRUNE2	158471	broad.mit.edu	37	chr9	79319009	79319009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaattctgatatttccttgCtggcacctagaagtggaagt	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79319009C>T	ENST00000428286.1	-	9	7643	c.6443G>A	c.(6442-6444)aGc>aAc	p.S2148N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2507N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2507					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATTTCCTTGCTGGCACCTAG	0.358													False	0	False	9:79319009	0	T	79319009	C	T	79319009	3	4	88	1	0	0	0	0	1	0	0	0	12717	797	28	2	1790	2	PRUNE2	9	79319009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65845	79319009	61894422	9728	17440											
PRUNE2	158471	broad.mit.edu	37	chr9	79320449	79320449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgatatccaagaaccGtcaccttctggagttggctc	9	12	3	2	rs41288769		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320449G>A	ENST00000428286.1	-	8	6864	c.5664C>T	c.(5662-5664)gaC>gaT	p.D1888D	PRUNE2_ENST00000376718.3_Silent_p.D2247D			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2247					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCAAGAACCGTCACCTTCTG	0.448													False	0	False	9:79320449	0	A	79320449	G	A	79320449	2	1	88	1	0	0	0	0	0	0	0	1	12717	1136	40	1		1	PRUNE2	9	79320449	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1440	79320449	61892982	9729	17441											
PRUNE2	158471	broad.mit.edu	37	chr9	79320790	79320790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggctcagtgagacaaaGctcactggattccacttcag	9	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320790G>A	ENST00000428286.1	-	8	6523	c.5323C>T	c.(5323-5325)Ctt>Ttt	p.L1775F	PRUNE2_ENST00000376718.3_Missense_Mutation_p.L2134F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2134					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTGAGACAAAGCTCACTGGAT	0.488													False	0	True	9:79320790	0	A	79320790	G	A	79320790	3	1	88	1	0	0	0	0	1	0	0	0	12717	971	34	2	2914	2	PRUNE2	9	79320790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	341	79320790	61892641	9730	17442											
PRUNE2	158471	broad.mit.edu	37	chr9	79320829	79320829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtcccatgcaagcactgaGgtgcttctcagtctcttgct	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320829G>T	ENST00000428286.1	-	8	6484	c.5284C>A	c.(5284-5286)Ctc>Atc	p.L1762I	PRUNE2_ENST00000376718.3_Missense_Mutation_p.L2121I			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2121					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAGCACTGAGGTGCTTCTCA	0.488													False	0	False	9:79320829	0	T	79320829	G	T	79320829	3	4	88	1	0	0	0	0	1	0	0	0	12717	1000	35	3	2953	3	PRUNE2	9	79320829	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	79320829	61892602	9731	17443											
PRUNE2	158471	broad.mit.edu	37	chr9	79321848	79321848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcttctccttctccactGctgtaatctgcatttcagtc	4	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79321848G>A	ENST00000428286.1	-	8	5465	c.4265C>T	c.(4264-4266)gCa>gTa	p.A1422V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1781V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1781					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCTCCACTGCTGTAATCTG	0.438													False	0	False	9:79321848	0	A	79321848	G	A	79321848	3	1	88	1	0	0	0	0	1	0	0	0	12717	1319	46	2	3972	2	PRUNE2	9	79321848	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1019	79321848	61891583	9732	17444											
PRUNE2	158471	broad.mit.edu	37	chr9	79322428	79322428	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctacttggccatcagtggTaattagttcagattcttggt	9	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79322428T>C	ENST00000428286.1	-	8	4885	c.3685A>G	c.(3685-3687)Acc>Gcc	p.T1229A	PRUNE2_ENST00000376718.3_Missense_Mutation_p.T1588A			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1588					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCATCAGTGGTAATTAGTTCA	0.408													False	0	False	9:79322428	0	C	79322428	T	C	79322428	3	2	88	1	0	0	0	0	1	0	0	0	12717	1638	57	4	4552	4	PRUNE2	9	79322428	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	580	79322428	61891003	9733	17445											
PRUNE2	158471	broad.mit.edu	37	chr9	79323618	79323618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttggtatgctcatcagagGcagggagctcccaatctacc	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79323618G>A	ENST00000428286.1	-	8	3695	c.2495C>T	c.(2494-2496)gCc>gTc	p.A832V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1191V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1191					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCATCAGAGGCAGGGAGCTC	0.498													False	0	False	9:79323618	0	A	79323618	G	A	79323618	3	1	88	1	0	0	0	0	1	0	0	0	12717	1203	42	2	5742	2	PRUNE2	9	79323618	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1190	79323618	61889813	9734	17446											
PRUNE2	158471	broad.mit.edu	37	chr9	79325119	79325119	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcctatcaatggagcttgGcttatgctctttccatgatt	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79325119G>T	ENST00000428286.1	-	8	2194	c.994C>A	c.(994-996)Cca>Aca	p.P332T	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P691T			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	691					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGGAGCTTGGCTTATGCTCT	0.453													False	0	False	9:79325119	0	T	79325119	G	T	79325119	3	4	88	1	0	0	0	0	1	0	0	0	12717	1203	42	3	7243	3	PRUNE2	9	79325119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1501	79325119	61888312	9735	17447											
PRUNE2	158471	broad.mit.edu	37	chr9	79438601	79438601	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttatttctccatctgacaGctcctttagatctttcaaca	3	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79438601G>T	ENST00000428286.1	-	0	826				PRUNE2_ENST00000376718.3_Missense_Mutation_p.L235M|PRUNE2_ENST00000376713.3_Missense_Mutation_p.L235M			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCATCTGACAGCTCCTTTAGA	0.348													False	0	False	9:79438601	0	T	79438601	G	T	79438601	1	4	88	1	0	0	0	0	0	0	0	0	12717	962	34	3		3	PRUNE2	9	79438601	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113482	79438601	61774830	9736	17448											
FOXB2	442425	broad.mit.edu	37	chr9	79634658	79634658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggcaatccagcactcgGccgagaagatgctgccgctg	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79634658G>A	ENST00000376708.1	+	1	88	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	30					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CCAGCACTCGGCCGAGAAGAT	0.627													False	0	False	9:79634658	0	A	79634658	G	A	79634658	3	1	88	1	0	0	0	0	1	0	0	0	6033	1203	42	2	90	2	FOXB2	9	79634658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196057	79634658	61578773	9737	17449											
FOXB2	442425	broad.mit.edu	37	chr9	79634736	79634736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaccgcgagcacacacagCgctggcagaacagcctgcgc	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79634736C>T	ENST00000376708.1	+	1	166	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	56					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						GCACACACAGCGCTGGCAGAA	0.607													False	0	False	9:79634736	0	T	79634736	C	T	79634736	3	4	88	1	0	0	0	0	1	0	0	0	6033	768	27	1	168	1	FOXB2	9	79634736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78	79634736	61578695	9738	17450											
FOXB2	442425	broad.mit.edu	37	chr9	79635075	79635075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccagccgccgccgccgCcgcccccgccgccgccgcac	10	28	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79635075C>T	ENST00000376708.1	+	1	505	c.505C>T	c.(505-507)Ccg>Tcg	p.P169S		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	169	Poly-Pro.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						gccgccgccgccgcccccgcc	0.701													False	0	True	9:79635075	0	T	79635075	C	T	79635075	3	4	88	1	0	0	0	0	1	0	0	0	6033	739	26	2	507	2	FOXB2	9	79635075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339	79635075	61578356	9739	17451											
VPS13A	23230	broad.mit.edu	37	chr9	79841408	79841408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagctggatacaaaatttaCaaagaaggagtaaaagatcc	8	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79841408C>T	ENST00000360280.3	+	15	1511	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	VPS13A_ENST00000376636.3_Silent_p.Y417Y|VPS13A_ENST00000376634.4_Silent_p.Y417Y|VPS13A_ENST00000357409.5_Silent_p.Y417Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	417					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAAAATTTACAAAGAAGGAG	0.318													False	0	True	9:79841408	0	T	79841408	C	T	79841408	2	4	88	1	0	0	0	0	0	0	0	1	17273	489	17	2		2	VPS13A	9	79841408	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206333	79841408	61372023	9740	17452											
VPS13A	23230	broad.mit.edu	37	chr9	79867222	79867222	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtacccatgcacttcaatTtggaactgtctaaggccatg	9	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79867222T>G	ENST00000360280.3	+	22	2502	c.2242T>G	c.(2242-2244)Ttg>Gtg	p.L748V	VPS13A_ENST00000376636.3_Missense_Mutation_p.L748V|VPS13A_ENST00000376634.4_Missense_Mutation_p.L748V|VPS13A_ENST00000357409.5_Missense_Mutation_p.L748V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	748					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCACTTCAATTTGGAACTGTC	0.373													False	0	True	9:79867222	0	G	79867222	T	G	79867222	3	3	88	1	0	0	0	0	1	0	0	0	17273	1838	64	4	2328	4	VPS13A	9	79867222	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25814	79867222	61346209	9741	17453											
VPS13A	23230	broad.mit.edu	37	chr9	79908284	79908284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atatcactggaaaagaagttTtcagcttcaaaatggtttct	7	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79908284T>C	ENST00000360280.3	+	32	3627	c.3367T>C	c.(3367-3369)Ttc>Ctc	p.F1123L	VPS13A_ENST00000376636.3_Missense_Mutation_p.F1084L|VPS13A_ENST00000376634.4_Missense_Mutation_p.F1123L|VPS13A_ENST00000357409.5_Missense_Mutation_p.F1123L|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1123					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAAGAAGTTTTCAGCTTCAA	0.303													False	0	True	9:79908284	0	C	79908284	T	C	79908284	3	2	88	1	0	0	0	0	1	0	0	0	17273	1841	64	4	3493	4	VPS13A	9	79908284	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41062	79908284	61305147	9742	17454											
VPS13A	23230	broad.mit.edu	37	chr9	79930362	79930362	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtagaaaccagtgtgCaaacatggactgctaaggaa	11	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79930362C>T	ENST00000360280.3	+	38	4866	c.4606C>T	c.(4606-4608)Caa>Taa	p.Q1536*	VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q1497*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q1536*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q1536*|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1536					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AACCAGTGTGCAAACATGGAC	0.373													False	0	True	9:79930362	0	T	79930362	C	T	79930362	4	4	88	1	0	0	0	0	0	1	0	0	17273	711	25	2	4756	2	VPS13A	9	79930362	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22078	79930362	61283069	9743	17455											
VPS13A	23230	broad.mit.edu	37	chr9	79933430	79933430	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atagaacagtacctatgcttCtggcaaagtcacgtttttca	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79933430C>T	ENST00000360280.3	+	41	5496	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	VPS13A_ENST00000376636.3_Silent_p.L1707L|VPS13A_ENST00000376634.4_Silent_p.L1746L|VPS13A_ENST00000357409.5_Silent_p.L1746L|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1746					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCTATGCTTCTGGCAAAGTC	0.378													False	0	False	9:79933430	0	T	79933430	C	T	79933430	2	4	88	1	0	0	0	0	0	0	0	1	17273	912	32	2		2	VPS13A	9	79933430	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3068	79933430	61280001	9744	17456											
VPS13A	23230	broad.mit.edu	37	chr9	79934591	79934591	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggaatcttggtatcaaggTatatctatatatgtctatgt	8	4	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79934591T>C	ENST00000360280.3	+	42	5675		c.e42+2		VPS13A_ENST00000376636.3_Splice_Site|VPS13A_ENST00000376634.4_Splice_Site|VPS13A_ENST00000357409.5_Splice_Site	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)						Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGTATCAAGGtatatctatat	0.289													False	0	False	9:79934591	0	C	79934591	T	C	79934591	5	2	88	1	0	0	0	0	0	0	1	0	17273	1652	57	4	5583	4	VPS13A	9	79934591	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1161	79934591	61278840	9745	17457											
VPS13A	23230	broad.mit.edu	37	chr9	79968343	79968343	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggatatgatgatgcctataGatttgggggaaaagacaata	12	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79968343G>T	ENST00000360280.3	+	54	7698	c.7438G>T	c.(7438-7440)Gat>Tat	p.D2480Y	VPS13A_ENST00000376636.3_Missense_Mutation_p.D2441Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.D2480Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D2480Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2480					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATGCCTATAGATTTGGGGGA	0.279													False	0	False	9:79968343	0	T	79968343	G	T	79968343	3	4	88	1	0	0	0	0	1	0	0	0	17273	942	33	3	7652	3	VPS13A	9	79968343	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33752	79968343	61245088	9746	17458											
VPS13A	23230	broad.mit.edu	37	chr9	79985233	79985233	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactaggacttaaggcactaGttggtggagctgttggtaag	14	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79985233G>T	ENST00000360280.3	+	64	8988	c.8728G>T	c.(8728-8730)Gtt>Ttt	p.V2910F	VPS13A_ENST00000376636.3_Missense_Mutation_p.V2871F|VPS13A_ENST00000376634.4_Missense_Mutation_p.V2910F|VPS13A_ENST00000357409.5_Missense_Mutation_p.V2910F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2910					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAAGGCACTAGTTGGTGGAGC	0.393													False	0	False	9:79985233	0	T	79985233	G	T	79985233	3	4	88	1	0	0	0	0	1	0	0	0	17273	1029	36	3	8982	3	VPS13A	9	79985233	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16890	79985233	61228198	9747	17459											
GNA14	9630	broad.mit.edu	37	chr9	80046298	80046298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggtggtgggcactcggaCgcgaagcacatcttgttggg	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80046298C>T	ENST00000341700.6	-	4	1045	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	178					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GGCACTCGGACGCGAAGCACA	0.488													False	0	False	9:80046298	0	T	80046298	C	T	80046298	3	4	88	1	0	0	0	0	1	0	0	0	6547	536	19	1	551	1	GNA14	9	80046298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61065	80046298	61167133	9748	17460											
GNAQ	2776	broad.mit.edu	37	chr9	80412494	80412494	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatccctgtggtggggactcGaactctaagcacatcttgtt	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80412494G>A	ENST00000286548.4	-	4	769	c.547C>T	c.(547-549)Cga>Tga	p.R183*	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	183					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.R183*(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTGGGGACTCGAACTCTAAGC	0.468			Mis		uveal melanoma								False	0	False	9:80412494	0	A	80412494	G	A	80412494	4	1	88	1	0	0	0	0	0	1	0	0	6554	1066	37	1	548	1	GNAQ	9	80412494	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	366196	80412494	60800937	9749	17461											
CEP78	84131	broad.mit.edu	37	chr9	80866840	80866840	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggattggctacaaagaaAcctgtaagtagtggcagaaa	12	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80866840A>G	ENST00000424347.2	+	9	1375	c.1086A>G	c.(1084-1086)aaA>aaG	p.K362K	CEP78_ENST00000277082.5_Silent_p.K362K|CEP78_ENST00000376598.2_Silent_p.K362K|CEP78_ENST00000415759.2_Silent_p.K363K|CEP78_ENST00000376597.4_Silent_p.K363K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	362					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CTACAAAGAAACCTGTAAGTA	0.433													False	0	True	9:80866840	0	G	80866840	A	G	80866840	2	3	88	1	0	0	0	0	0	0	0	1	3285	40	2	4		4	CEP78	9	80866840	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	454346	80866840	60346591	9750	17462											
CEP78	84131	broad.mit.edu	37	chr9	80866940	80866940	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttgccgtggcgtactgcaGaacgtgcaaaaagacacagg	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80866940G>A	ENST00000424347.2	+	9	1475	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	CEP78_ENST00000277082.5_Missense_Mutation_p.E396K|CEP78_ENST00000376598.2_Missense_Mutation_p.E396K|CEP78_ENST00000415759.2_Missense_Mutation_p.E397K|CEP78_ENST00000376597.4_Missense_Mutation_p.E397K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	396					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GCGTACTGCAGAACGTGCAAA	0.413													False	0	False	9:80866940	0	A	80866940	G	A	80866940	3	1	88	1	0	0	0	0	1	0	0	0	3285	943	33	2	1223	2	CEP78	9	80866940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100	80866940	60346491	9751	17463											
TLE4	7091	broad.mit.edu	37	chr9	82267698	82267698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagcaccatgacaatgAtcaccaaagaggtgagtaac	10	8	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82267698A>G	ENST00000376520.4	+	7	1409	c.581A>G	c.(580-582)gAt>gGt	p.D194G	TLE4_ENST00000265284.6_Missense_Mutation_p.D169G|TLE4_ENST00000376552.2_Missense_Mutation_p.D194G|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.D194G|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Missense_Mutation_p.D194G	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATGACAATGATCACCAAAGA	0.483													False	0	False	9:82267698	0	G	82267698	A	G	82267698	3	3	88	1	0	0	0	0	1	0	0	0	16023	333	12	4	607	4	TLE4	9	82267698	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1400758	82267698	58945733	9752	17464											
TLE4	7091	broad.mit.edu	37	chr9	82319707	82319707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctaattccagagctcttcaGtatccccatcagccagtttc	5	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82319707G>T	ENST00000376552.2	+	9	1637	c.619G>T	c.(619-621)Gta>Tta	p.V207L	TLE4_ENST00000265284.6_Missense_Mutation_p.V182L|TLE4_ENST00000376520.4_Splice_Site|TLE4_ENST00000376537.4_Missense_Mutation_p.V207L|TLE4_ENST00000376544.3_Splice_Site|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGCTCTTCAGTATCCCCATC	0.413													False	0	False	9:82319707	0	T	82319707	G	T	82319707	3	4	88	1	0	0	0	0	1	0	0	0	16023	1029	36	3	653	3	TLE4	9	82319707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52009	82319707	58893724	9753	17465											
TLE4	7091	broad.mit.edu	37	chr9	82335058	82335058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtccatttgggacctggCggctccaaccccacgcatca	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82335058C>T	ENST00000376520.4	+	17	2612	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	TLE4_ENST00000265284.6_Missense_Mutation_p.A538V|TLE4_ENST00000376552.2_Missense_Mutation_p.A563V|TLE4_ENST00000376537.4_Missense_Mutation_p.A595V|TLE4_ENST00000376544.3_Missense_Mutation_p.A494V|TLE4_ENST00000376534.4_Missense_Mutation_p.A200V	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGGGACCTGGCGGCTCCAACC	0.582													False	0	False	9:82335058	0	T	82335058	C	T	82335058	3	4	88	1	0	0	0	0	1	0	0	0	16023	768	27	1	1750	1	TLE4	9	82335058	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15351	82335058	58878373	9754	17466											
TLE4	7091	broad.mit.edu	37	chr9	82336698	82336698	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagccagctgtattgacatTtctaatgatggcaccaagct	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82336698T>C	ENST00000376520.4	+	18	2805	c.1977T>C	c.(1975-1977)atT>atC	p.I659I	TLE4_ENST00000265284.6_Silent_p.I602I|TLE4_ENST00000376552.2_Silent_p.I627I|TLE4_ENST00000376537.4_Silent_p.I659I|TLE4_ENST00000376544.3_Silent_p.I558I|TLE4_ENST00000376534.4_Silent_p.I264I	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTATTGACATTTCTAATGATG	0.507													False	0	True	9:82336698	0	C	82336698	T	C	82336698	2	2	88	1	0	0	0	0	0	0	0	1	16023	1829	64	4		4	TLE4	9	82336698	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1640	82336698	58876733	9755	17467											
TLE1	7088	broad.mit.edu	37	chr9	84205779	84205779	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgccgtcgctgcagcatgaGaagcagaccttggaatcggg	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84205779G>T	ENST00000376499.3	-	16	2834	c.1770C>A	c.(1768-1770)ttC>ttA	p.F590L		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	590					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TGCAGCATGAGAAGCAGACCT	0.617													False	0	False	9:84205779	0	T	84205779	G	T	84205779	3	4	88	1	0	0	0	0	1	0	0	0	16020	933	33	3	562	3	TLE1	9	84205779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1869081	84205779	57007652	9756	17468											
TLE1	7088	broad.mit.edu	37	chr9	84228383	84228383	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccggcgttggcatgtcGctccgaggcgttggtgtgct	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84228383G>A	ENST00000376499.3	-	12	2036	c.972C>T	c.(970-972)agC>agT	p.S324S	TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376484.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	324	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TTGGCATGTCGCTCCGAGGCG	0.537													False	0	False	9:84228383	0	A	84228383	G	A	84228383	2	1	88	1	0	0	0	0	0	0	0	1	16020	1078	38	1		1	TLE1	9	84228383	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22604	84228383	56985048	9757	17469											
RASEF	158158	broad.mit.edu	37	chr9	85637250	85637250	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccaacccagaaactcaCgtctttccgtgtcttatgtt	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85637250C>T	ENST00000376447.3	-	3	930		c.e3+1			NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing						protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAGAAACTCACGTCTTTCCGT	0.502													False	0	False	9:85637250	0	T	85637250	C	T	85637250	5	4	88	1	0	0	0	0	0	0	1	0	13147	550	19	1	1612	1	RASEF	9	85637250	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1408867	85637250	55576181	9758	17470											
FRMD3	257019	broad.mit.edu	37	chr9	85862972	85862972	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaaggagagatcaatacctGactccaaaaggaggaggagc	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85862972G>A	ENST00000304195.3	-	14	1861	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L	FRMD3_ENST00000376438.1_Missense_Mutation_p.S552L|FRMD3_ENST00000328788.1_Missense_Mutation_p.S209L|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376434.1_Missense_Mutation_p.S358L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	552						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						ATCAATACCTGACTCCAAAAG	0.517													False	0	False	9:85862972	0	A	85862972	G	A	85862972	3	1	88	1	0	0	0	0	1	0	0	0	6092	1294	45	2	142	2	FRMD3	9	85862972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225722	85862972	55350459	9759	17471											
FRMD3	257019	broad.mit.edu	37	chr9	85863059	85863059	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggaaaaactcttgaccagtGggttcacccgaatatggcca	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85863059G>T	ENST00000304195.3	-	14	1774	c.1568C>A	c.(1567-1569)cCa>cAa	p.P523Q	FRMD3_ENST00000376438.1_Missense_Mutation_p.P523Q|FRMD3_ENST00000328788.1_Missense_Mutation_p.P180Q|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376434.1_Missense_Mutation_p.P329Q	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	523						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTGACCAGTGGGTTCACCCG	0.517													False	0	True	9:85863059	0	T	85863059	G	T	85863059	3	4	88	1	0	0	0	0	1	0	0	0	6092	1348	47	3	229	3	FRMD3	9	85863059	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87	85863059	55350372	9760	17472											
UBQLN1	29979	broad.mit.edu	37	chr9	86278795	86278795	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gaaaagaactgatacctgagGatttactccagcaagagcct	9	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86278795G>T	ENST00000376395.4	-	10	2135	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	UBQLN1_ENST00000257468.7_Missense_Mutation_p.P510T	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	538				NP -> YS (in Ref. 4; BAB20436).	apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GATACCTGAGGATTTACTCCA	0.413													False	0	False	9:86278795	0	T	86278795	G	T	86278795	3	4	88	1	0	0	0	0	1	0	0	0	16980	1174	41	3	165	3	UBQLN1	9	86278795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	415736	86278795	54934636	9761	17473											
UBQLN1	29979	broad.mit.edu	37	chr9	86293447	86293447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggatgctttctaggttgCtcaaagctcggtcctggttc	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86293447C>A	ENST00000376395.4	-	5	1302	c.779G>T	c.(778-780)aGc>aTc	p.S260I	UBQLN1_ENST00000257468.7_Missense_Mutation_p.S260I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	260					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTCTAGGTTGCTCAAAGCTCG	0.443													False	0	False	9:86293447	0	A	86293447	C	A	86293447	3	1	88	1	0	0	0	0	1	0	0	0	16980	797	28	3	1018	3	UBQLN1	9	86293447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14652	86293447	54919984	9762	17474											
UBQLN1	29979	broad.mit.edu	37	chr9	86293476	86293476	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cggtcctggttcctcatcatCtcctgcatcattgctggatt	8	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86293476C>A	ENST00000376395.4	-	5	1273	c.750G>T	c.(748-750)gaG>gaT	p.E250D	UBQLN1_ENST00000257468.7_Missense_Mutation_p.E250D	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	250					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TCCTCATCATCTCCTGCATCA	0.403													False	0	False	9:86293476	0	A	86293476	C	A	86293476	3	1	88	1	0	0	0	0	1	0	0	0	16980	912	32	3	1047	3	UBQLN1	9	86293476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	86293476	54919955	9763	17475											
KIF27	55582	broad.mit.edu	37	chr9	86518147	86518147	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttttcgtttagtctgAcagtatcttttaggtcaacc	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518147A>G	ENST00000297814.2	-	4	1429	c.1286T>C	c.(1285-1287)gTc>gCc	p.V429A	KIF27_ENST00000413982.1_Missense_Mutation_p.V429A|KIF27_ENST00000334204.2_Missense_Mutation_p.V429A	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	429					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GTTTAGTCTGACAGTATCTTT	0.468													False	0	False	9:86518147	0	G	86518147	A	G	86518147	3	3	88	1	0	0	0	0	1	0	0	0	8346	275	10	4	2979	4	KIF27	9	86518147	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	224671	86518147	54695284	9764	17476											
KIF27	55582	broad.mit.edu	37	chr9	86518595	86518595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgtgggtccccaagagCgcttattacatttcctaaag	9	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518595C>T	ENST00000297814.2	-	4	981	c.838G>A	c.(838-840)Gct>Act	p.A280T	KIF27_ENST00000413982.1_Missense_Mutation_p.A280T|KIF27_ENST00000334204.2_Missense_Mutation_p.A280T	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	280					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCCCAAGAGCGCTTATTACA	0.438													False	0	False	9:86518595	0	T	86518595	C	T	86518595	3	4	88	1	0	0	0	0	1	0	0	0	8346	768	27	1	3427	1	KIF27	9	86518595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	448	86518595	54694836	9765	17477											
KIF27	55582	broad.mit.edu	37	chr9	86518816	86518816	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgtaaaaattgcatgtgatCtgctggagtgctcattcatt	9	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518816C>T	ENST00000297814.2	-	4	760	c.617G>A	c.(616-618)aGa>aAa	p.R206K	KIF27_ENST00000413982.1_Missense_Mutation_p.R206K|KIF27_ENST00000334204.2_Missense_Mutation_p.R206K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	206	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGCATGTGATCTGCTGGAGTG	0.438													False	0	False	9:86518816	0	T	86518816	C	T	86518816	3	4	88	1	0	0	0	0	1	0	0	0	8346	913	32	2	3648	2	KIF27	9	86518816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221	86518816	54694615	9766	17478											
KIF27	55582	broad.mit.edu	37	chr9	86523489	86523489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttacattaaagtcaatgCtaggatgttcagagatgctt	8	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86523489C>T	ENST00000297814.2	-	3	520	c.377G>A	c.(376-378)aGc>aAc	p.S126N	KIF27_ENST00000413982.1_Missense_Mutation_p.S126N|KIF27_ENST00000334204.2_Missense_Mutation_p.S126N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	126	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AAAGTCAATGCTAGGATGTTC	0.363													False	0	False	9:86523489	0	T	86523489	C	T	86523489	3	4	88	1	0	0	0	0	1	0	0	0	8346	797	28	2	3892	2	KIF27	9	86523489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4673	86523489	54689942	9767	17479											
C9orf64	84267	broad.mit.edu	37	chr9	86559841	86559841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagccatctccttttccttCcaatacactccacgtatctg	4	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86559841C>T	ENST00000376344.3	-	3	877	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	C9orf64_ENST00000314700.1_Missense_Mutation_p.E80K	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	221										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CCTTTTCCTTCCAATACACTC	0.398													False	0	True	9:86559841	0	T	86559841	C	T	86559841	3	4	88	1	0	0	0	0	1	0	0	0	2509	864	30	2	372	2	C9orf64	9	86559841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36352	86559841	54653590	9768	17480											
HNRNPK	3190	broad.mit.edu	37	chr9	86585163	86585163	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcttcggatccttctaaaggCtcatcaattttgatcgaagc	7	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86585163C>G	ENST00000376263.3	-	16	1498	c.1275G>C	c.(1273-1275)gaG>gaC	p.E425D	HNRNPK_ENST00000351839.3_Missense_Mutation_p.E425D|HNRNPK_ENST00000376281.4_Missense_Mutation_p.E425D|HNRNPK_ENST00000360384.5_Missense_Mutation_p.E425D|HNRNPK_ENST00000376264.2_Missense_Mutation_p.E425D	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	425	KH 3.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CTTCTAAAGGCTCATCAATTT	0.408													False	0	False	9:86585163	0	G	86585163	C	G	86585163	3	3	88	1	0	0	0	0	1	0	0	0	7316	796	28	5	162	5	HNRNPK	9	86585163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25322	86585163	54628268	9769	17481											
HNRNPK	3190	broad.mit.edu	37	chr9	86586806	86586806	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaacaacttacccccctctaGgtggtggtggtggaggaaga	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86586806G>T	ENST00000376263.3	-	11	1167	c.944C>A	c.(943-945)cCt>cAt	p.P315H	HNRNPK_ENST00000351839.3_Missense_Mutation_p.P315H|HNRNPK_ENST00000376281.4_Missense_Mutation_p.P315H|HNRNPK_ENST00000360384.5_Missense_Mutation_p.P315H|HNRNPK_ENST00000376264.2_Missense_Mutation_p.P315H	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	315	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCCCCCTCTAGGTGGTGGTGG	0.527													False	0	True	9:86586806	0	T	86586806	G	T	86586806	3	4	88	1	0	0	0	0	1	0	0	0	7316	1000	35	3	513	3	HNRNPK	9	86586806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1643	86586806	54626625	9770	17482											
SLC28A3	64078	broad.mit.edu	37	chr9	86955505	86955505	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacctggaagcccacgttgCtgtagccctcagctctgggg	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86955505C>A	ENST00000376238.4	-	1	93	c.44G>T	c.(43-45)aGc>aTc	p.S15I	SLC28A3_ENST00000537648.1_5'UTR|SLC28A3_ENST00000495823.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	15					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GCCCACGTTGCTGTAGCCCTC	0.532													False	0	False	9:86955505	0	A	86955505	C	A	86955505	3	1	88	1	0	0	0	0	1	0	0	0	14613	797	28	3	2103	3	SLC28A3	9	86955505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	368699	86955505	54257926	9771	17483											
NTRK2	4915	broad.mit.edu	37	chr9	87285823	87285823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccttctcctggcatcgtgGcatttccgagattggagcct	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87285823G>A	ENST00000304053.6	+	2	643	c.160G>A	c.(160-162)Gca>Aca	p.A54T	NTRK2_ENST00000376214.1_Missense_Mutation_p.A54T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A54T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A54T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A54T|NTRK2_ENST00000323115.4_Missense_Mutation_p.A54T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A54T|NTRK2_ENST00000395882.1_Missense_Mutation_p.A54T	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	54	LRRNT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGGCATCGTGGCATTTCCGAG	0.567										TSP Lung(25;0.17)			False	0	False	9:87285823	0	A	87285823	G	A	87285823	3	1	88	1	0	0	0	0	1	0	0	0	10775	1203	42	2	162	2	NTRK2	9	87285823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330318	87285823	53927608	9772	17484											
NTRK2	4915	broad.mit.edu	37	chr9	87338493	87338493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttgttccataggtttgCcatctgcaaatctggccgca	8	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87338493C>T	ENST00000304053.6	+	7	1072	c.589C>T	c.(589-591)Cca>Tca	p.P197S	NTRK2_ENST00000376214.1_Missense_Mutation_p.P197S|NTRK2_ENST00000359847.3_Missense_Mutation_p.P197S|NTRK2_ENST00000277120.3_Missense_Mutation_p.P197S|NTRK2_ENST00000395866.2_Missense_Mutation_p.P41S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P197S|NTRK2_ENST00000323115.4_Missense_Mutation_p.P197S|NTRK2_ENST00000376208.1_Missense_Mutation_p.P197S|NTRK2_ENST00000395882.1_Missense_Mutation_p.P197S	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	197	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CATAGGTTTGCCATCTGCAAA	0.373										TSP Lung(25;0.17)			False	0	False	9:87338493	0	T	87338493	C	T	87338493	3	4	88	1	0	0	0	0	1	0	0	0	10775	739	26	2	611	2	NTRK2	9	87338493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52670	87338493	53874938	9773	17485											
NTRK2	4915	broad.mit.edu	37	chr9	87339252	87339252	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaggagaagatcaagattcTgtcaacctcactgtgcattg	10	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87339252T>G	ENST00000304053.6	+	8	1317	c.834T>G	c.(832-834)tcT>tcG	p.S278S	NTRK2_ENST00000376214.1_Silent_p.S278S|NTRK2_ENST00000359847.3_Silent_p.S278S|NTRK2_ENST00000277120.3_Silent_p.S278S|NTRK2_ENST00000395866.2_Silent_p.S122S|NTRK2_ENST00000376213.1_Silent_p.S278S|NTRK2_ENST00000323115.4_Silent_p.S278S|NTRK2_ENST00000376208.1_Silent_p.S278S|NTRK2_ENST00000395882.1_Silent_p.S278S	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	278	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						ATCAAGATTCTGTCAACCTCA	0.448										TSP Lung(25;0.17)			False	0	False	9:87339252	0	G	87339252	T	G	87339252	2	3	88	1	0	0	0	0	0	0	0	1	10775	1567	55	4		4	NTRK2	9	87339252	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	759	87339252	53874179	9774	17486											
NTRK2	4915	broad.mit.edu	37	chr9	87482309	87482309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcattgaaaatccccagtaCtttggcatcaccaacagtca	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87482309C>T	ENST00000304053.6	+	14	2079	c.1596C>T	c.(1594-1596)taC>taT	p.Y532Y	NTRK2_ENST00000376214.1_Silent_p.Y532Y|NTRK2_ENST00000277120.3_Silent_p.Y532Y|NTRK2_ENST00000376213.1_Silent_p.Y516Y|NTRK2_ENST00000323115.4_Silent_p.Y516Y|NTRK2_ENST00000376208.1_Silent_p.Y516Y	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	516					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						ATCCCCAGTACTTTGGCATCA	0.448										TSP Lung(25;0.17)			False	0	True	9:87482309	0	T	87482309	C	T	87482309	2	4	88	1	0	0	0	0	0	0	0	1	10775	576	20	2		2	NTRK2	9	87482309	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143057	87482309	53731122	9775	17487											
AGTPBP1	23287	broad.mit.edu	37	chr9	88284449	88284449	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtccaatgattttaaacaTcagttccacaactccatttt	4	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88284449T>G	ENST00000357081.3	-	8	757	c.613A>C	c.(613-615)Atg>Ctg	p.M205L	AGTPBP1_ENST00000337006.4_Missense_Mutation_p.M147L|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.M147L|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.M205L|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.M43L|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.M257L|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.M205L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	205					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATTTTAAACATCAGTTCCACA	0.343													False	0	False	9:88284449	0	G	88284449	T	G	88284449	3	3	88	1	0	0	0	0	1	0	0	0	400	1435	50	4	3023	4	AGTPBP1	9	88284449	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	802140	88284449	52928982	9776	17488											
AGTPBP1	23287	broad.mit.edu	37	chr9	88292495	88292495	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaactcactcttcgacctcCacctaaaaattaaaaaaaaa	2	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88292495C>A	ENST00000357081.3	-	6	436	c.292G>T	c.(292-294)Gga>Tga	p.G98*	AGTPBP1_ENST00000337006.4_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_Nonsense_Mutation_p.G40*|AGTPBP1_ENST00000376081.4_Nonsense_Mutation_p.G98*|AGTPBP1_ENST00000432218.1_5'UTR|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.G150*|AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.G98*			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	98					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTTCGACCTCCACCtaaaaat	0.299													False	0	False	9:88292495	0	A	88292495	C	A	88292495	4	1	88	1	0	0	0	0	0	1	0	0	400	603	21	3	3352	3	AGTPBP1	9	88292495	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8046	88292495	52920936	9777	17489											
ZCCHC6	79670	broad.mit.edu	37	chr9	88938254	88938254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccttgttatctaaagtgGcaagtccctcacactcttta	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88938254G>A	ENST00000277141.6	-	14	2702	c.278C>T	c.(277-279)gCc>gTc	p.A93V	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.A804V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A681V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.A804V			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	804					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATCTAAAGTGGCAAGTCCCTC	0.453													False	0	False	9:88938254	0	A	88938254	G	A	88938254	3	1	88	1	0	0	0	0	1	0	0	0	17675	1203	42	2	2136	2	ZCCHC6	9	88938254	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	645759	88938254	52275177	9778	17490											
ZCCHC6	79670	broad.mit.edu	37	chr9	88958032	88958032	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgtttacatccgaatttttGaaacccaatctgctacagga	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88958032G>C	ENST00000375961.2	-	6	1258	c.1044C>G	c.(1042-1044)ttC>ttG	p.F348L	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375948.1_5'UTR|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.F348L|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.F348L			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	348					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CCGAATTTTTGAAACCCAATC	0.308													False	0	True	9:88958032	0	C	88958032	G	C	88958032	3	2	88	1	0	0	0	0	1	0	0	0	17675	1281	45	5	3531	5	ZCCHC6	9	88958032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19778	88958032	52255399	9779	17491											
DAPK1	1612	broad.mit.edu	37	chr9	90219966	90219966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggactaagtccagccggCggggtgtgagccgcgaggac	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90219966C>T	ENST00000469640.2	+	3	535	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	DAPK1_ENST00000408954.3_Missense_Mutation_p.R54W|DAPK1_ENST00000491893.1_Missense_Mutation_p.R54W|DAPK1_ENST00000472284.1_Missense_Mutation_p.R54W|DAPK1_ENST00000358077.5_Missense_Mutation_p.R54W			P53355	DAPK1_HUMAN	death-associated protein kinase 1	54	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GTCCAGCCGGCGGGGTGTGAG	0.557									Chronic Lymphocytic Leukemia, Familial Clustering of				False	0	True	9:90219966	0	T	90219966	C	T	90219966	3	4	88	1	0	0	0	0	1	0	0	0	4260	759	27	1	166	1	DAPK1	9	90219966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1261934	90219966	50993465	9780	17492											
DAPK1	1612	broad.mit.edu	37	chr9	90258300	90258300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaaaaaaaagcaatccgttCgcttgatatcactgtgccaa	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90258300C>T	ENST00000469640.2	+	11	1303	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DAPK1_ENST00000408954.3_Missense_Mutation_p.R310C|DAPK1_ENST00000491893.1_Missense_Mutation_p.R310C|DAPK1_ENST00000472284.1_Missense_Mutation_p.R310C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R310C			P53355	DAPK1_HUMAN	death-associated protein kinase 1	310	Calmodulin-binding.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCAATCCGTTCGCTTGATATC	0.428									Chronic Lymphocytic Leukemia, Familial Clustering of				False	0	False	9:90258300	0	T	90258300	C	T	90258300	3	4	88	1	0	0	0	0	1	0	0	0	4260	884	31	1	966	1	DAPK1	9	90258300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38334	90258300	50955131	9781	17493											
SPIN1	10927	broad.mit.edu	37	chr9	91083296	91083296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaatccccagcgacatctcGaatcagcgatgcacacttgg	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91083296G>A	ENST00000375859.3	+	5	643	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.R122Q	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	122					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GCGACATCTCGAATCAGCGAT	0.413													False	0	False	9:91083296	0	A	91083296	G	A	91083296	3	1	88	1	0	0	0	0	1	0	0	0	15134	1058	37	1	379	1	SPIN1	9	91083296	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	824996	91083296	50130135	9782	17494											
SECISBP2	79048	broad.mit.edu	37	chr9	91964707	91964707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggccagaggggatggaCgaactgatctccactccttc	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91964707C>T	ENST00000375807.3	+	13	1826	c.1755C>T	c.(1753-1755)gaC>gaT	p.D585D	SECISBP2_ENST00000534113.2_Silent_p.D517D|SECISBP2_ENST00000339901.4_Silent_p.D512D	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	585					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGGGGATGGACGAACTGATCT	0.567													False	0	False	9:91964707	0	T	91964707	C	T	91964707	2	4	88	1	0	0	0	0	0	0	0	1	14087	535	19	1		1	SECISBP2	9	91964707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	881411	91964707	49248724	9783	17495											
SECISBP2	79048	broad.mit.edu	37	chr9	91972418	91972418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaccgcaaagctctggggCgcagtttgaataaggcagtt	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91972418C>T	ENST00000375807.3	+	15	2277	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	SECISBP2_ENST00000534113.2_Missense_Mutation_p.R668C|SECISBP2_ENST00000339901.4_Missense_Mutation_p.R663C	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	736					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGCTCTGGGGCGCAGTTTGAA	0.527													False	0	True	9:91972418	0	T	91972418	C	T	91972418	3	4	88	1	0	0	0	0	1	0	0	0	14087	768	27	1	2264	1	SECISBP2	9	91972418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7711	91972418	49241013	9784	17496											
SEMA4D	10507	broad.mit.edu	37	chr9	91996226	91996226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcggggcctggaccacGcccgagttagagccagcata	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91996226G>A	ENST00000450295.1	-	14	2258	c.1482C>T	c.(1480-1482)ggC>ggT	p.G494G	SEMA4D_ENST00000420987.1_Silent_p.G494G|SEMA4D_ENST00000422704.2_Silent_p.G494G|SEMA4D_ENST00000438547.2_Silent_p.G494G|SEMA4D_ENST00000339861.4_Silent_p.G494G|SEMA4D_ENST00000356444.2_Silent_p.G494G|SEMA4D_ENST00000455551.2_Silent_p.G494G|SEMA4D_ENST00000343780.4_Silent_p.G494G			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	494	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCTGGACCACGCCCGAGTTAG	0.637													False	0	True	9:91996226	0	A	91996226	G	A	91996226	2	1	88	1	0	0	0	0	0	0	0	1	14115	1074	38	1		1	SEMA4D	9	91996226	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23808	91996226	49217205	9785	17497											
DIRAS2	0	broad.mit.edu	37	chr9	93375522	93375522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggccttcacatgatcacGcacttgcctttgagcttctc	8	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93375522G>A	ENST00000375765.3	-	2	976	c.588C>T	c.(586-588)tgC>tgT	p.C196C		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	196					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						ACATGATCACGCACTTGCCTT	0.562													False	0	False	9:93375522	0	A	93375522	G	A	93375522	2	1	88	1	0	0	0	0	0	0	0	1	4561	1079	38	1		1	DIRAS2	9	93375522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1379296	93375522	47837909	9786	17498											
DIRAS2	0	broad.mit.edu	37	chr9	93375869	93375869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtacaccaggatgaaggCgtgccctttggagatggaca	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93375869C>T	ENST00000375765.3	-	2	629	c.241G>A	c.(241-243)Gcc>Acc	p.A81T		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	81					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						AGGATGAAGGCGTGCCCTTTG	0.562													False	0	False	9:93375869	0	T	93375869	C	T	93375869	3	4	88	1	0	0	0	0	1	0	0	0	4561	768	27	1	362	1	DIRAS2	9	93375869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347	93375869	47837562	9787	17499											
SYK	6850	broad.mit.edu	37	chr9	93606405	93606405	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctgaatggcacctacgcCatcgccggtggcaggaccca	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93606405C>A	ENST00000375754.4	+	2	373	c.225C>A	c.(223-225)gcC>gcA	p.A75A	SYK_ENST00000375746.1_Silent_p.A75A|SYK_ENST00000375747.1_Silent_p.A75A|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375751.4_Silent_p.A75A	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	75	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCACCTACGCCATCGCCGGTG	0.657			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								False	0	False	9:93606405	0	A	93606405	C	A	93606405	2	1	88	1	0	0	0	0	0	0	0	1	15520	581	21	3		3	SYK	9	93606405	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230536	93606405	47607026	9788	17500											
SYK	6850	broad.mit.edu	37	chr9	93606436	93606436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggacccatgccagccccGccgacctctgccactaccac	8	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93606436G>A	ENST00000375754.4	+	2	404	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	SYK_ENST00000375746.1_Missense_Mutation_p.A86T|SYK_ENST00000375747.1_Missense_Mutation_p.A86T|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375751.4_Missense_Mutation_p.A86T	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	86	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGCCAGCCCCGCCGACCTCTG	0.667			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								False	0	True	9:93606436	0	A	93606436	G	A	93606436	3	1	88	1	0	0	0	0	1	0	0	0	15520	1087	38	1	258	1	SYK	9	93606436	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	93606436	47606995	9789	17501											
SYK	6850	broad.mit.edu	37	chr9	93650131	93650131	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggagctttggagtgtTgatgtgggaagcattctcct	14	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93650131T>C	ENST00000375754.4	+	12	1830	c.1682T>C	c.(1681-1683)tTg>tCg	p.L561S	SYK_ENST00000375746.1_Missense_Mutation_p.L561S|SYK_ENST00000375747.1_Missense_Mutation_p.L538S|SYK_ENST00000375751.4_Missense_Mutation_p.L538S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	561	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TTTGGAGTGTTGATGTGGGAA	0.502			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								False	0	False	9:93650131	0	C	93650131	T	C	93650131	3	2	88	1	0	0	0	0	1	0	0	0	15520	1821	63	4	1724	4	SYK	9	93650131	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43695	93650131	47563300	9790	17502											
AUH	549	broad.mit.edu	37	chr9	93978386	93978386	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctaaccctgttactaaatcGacctgagaataaaaacataa	5	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93978386G>A	ENST00000375731.4	-	9	920	c.897C>T	c.(895-897)gtC>gtT	p.V299V	AUH_ENST00000303617.5_Silent_p.V270V	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	299					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTACTAAATCGACCTGAGAAT	0.338													False	0	False	9:93978386	0	A	93978386	G	A	93978386	2	1	88	1	0	0	0	0	0	0	0	1	1223	1045	37	1		1	AUH	9	93978386	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	328255	93978386	47235045	9791	17503											
AUH	549	broad.mit.edu	37	chr9	93979605	93979605	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgccactctcattgcaacaGgtccctaaaattcaaattaa	4	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93979605G>T	ENST00000375731.4	-	8	871	c.848C>A	c.(847-849)cCt>cAt	p.P283H	AUH_ENST00000303617.5_Missense_Mutation_p.P254H	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	283					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CATTGCAACAGGTCCCTAAAA	0.343													False	0	False	9:93979605	0	T	93979605	G	T	93979605	3	4	88	1	0	0	0	0	1	0	0	0	1223	1000	35	3	183	3	AUH	9	93979605	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1219	93979605	47233826	9792	17504											
NFIL3	4783	broad.mit.edu	37	chr9	94172259	94172259	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggagagtgtgagtacccaGagaaagaattccccatatag	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94172259G>A	ENST00000297689.3	-	2	1152	c.758C>T	c.(757-759)tCt>tTt	p.S253F		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	253					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGAGTACCCAGAGAAAGAATT	0.498													False	0	True	9:94172259	0	A	94172259	G	A	94172259	3	1	88	1	0	0	0	0	1	0	0	0	10441	942	33	2	634	2	NFIL3	9	94172259	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192654	94172259	47041172	9793	17505											
ROR2	4920	broad.mit.edu	37	chr9	94486406	94486406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagggcggggccttctgCttgggccccacgtagcgggc	19	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486406C>T	ENST00000375708.3	-	9	2568	c.2370G>A	c.(2368-2370)aaG>aaA	p.K790K	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	790	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCCTTCTGCTTGGGCCCCA	0.677													False	0	False	9:94486406	0	T	94486406	C	T	94486406	2	4	88	1	0	0	0	0	0	0	0	1	13606	796	28	2		2	ROR2	9	94486406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	314147	94486406	46727025	9794	17506											
ROR2	4920	broad.mit.edu	37	chr9	94486500	94486500	+	Missense_Mutation	SNP	G	G	A													tgctggcccccgaggtctgcGccgagctgttgtagttggaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486500G>A	ENST00000375708.3	-	9	2474	c.2276C>T	c.(2275-2277)gCg>gTg	p.A759V	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.A619V	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	759	Ser/Thr-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGAGGTCTGCGCCGAGCTGTT	0.652													False	0	False	9:94486500	0	A	94486500	G	A	94486500	3	1	88	1	0	0	0	0	1	0	0	0	13606	1087	38	1	559	1	ROR2	9	94486500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	94486500	46726931	9795	17507	207	2									
ROR2	4920	broad.mit.edu	37	chr9	94486503	94486503	+	Missense_Mutation	SNP	G	G	A													tggcccccgaggtctgcgccGagctgttgtagttggaaagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486503G>A	ENST00000375708.3	-	9	2471	c.2273C>T	c.(2272-2274)tCg>tTg	p.S758L	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.S618L	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	758	Ser/Thr-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTCTGCGCCGAGCTGTTGTA	0.652													False	0	False	9:94486503	0	A	94486503	G	A	94486503	3	1	88	1	0	0	0	0	1	0	0	0	13606	1059	37	1	562	1	ROR2	9	94486503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3	94486503	46726928	9796	17508	207	2									
SPTLC1	10558	broad.mit.edu	37	chr9	94812267	94812267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccatagtgttcagtgactCctcggccatgctctcctagg	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94812267C>T	ENST00000262554.2	-	9	868	c.863G>A	c.(862-864)gGa>gAa	p.G288E		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	288						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TTCAGTGACTCCTCGGCCATG	0.388													False	0	False	9:94812267	0	T	94812267	C	T	94812267	3	4	88	1	0	0	0	0	1	0	0	0	15205	855	30	2	586	2	SPTLC1	9	94812267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325764	94812267	46401164	9797	17509											
SPTLC1	10558	broad.mit.edu	37	chr9	94842364	94842364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctttagagatgctaaagCtgctgcctttattgaagtac	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94842364C>T	ENST00000262554.2	-	5	366	c.361G>A	c.(361-363)Gct>Act	p.A121T	SPTLC1_ENST00000337841.4_Missense_Mutation_p.A121T|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	121						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GATGCTAAAGCTGCTGCCTTT	0.363													False	0	False	9:94842364	0	T	94842364	C	T	94842364	3	4	88	1	0	0	0	0	1	0	0	0	15205	797	28	2	1113	2	SPTLC1	9	94842364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30097	94842364	46371067	9798	17510											
IARS	3376	broad.mit.edu	37	chr9	95014113	95014113	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtctgcaaagagaaagcaGaacactaaacaaggtttcta	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95014113G>T	ENST00000375643.3	-	22	2550	c.2284C>A	c.(2284-2286)Ctg>Atg	p.L762M	IARS_ENST00000375629.3_De_novo_Start_InFrame|IARS_ENST00000443024.2_Missense_Mutation_p.L762M|IARS_ENST00000447699.2_Missense_Mutation_p.L652M	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	762					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGAGAAAGCAGAACACTAAAC	0.418													False	0	False	9:95014113	0	T	95014113	G	T	95014113	3	4	88	1	0	0	0	0	1	0	0	0	7523	933	33	3	1556	3	IARS	9	95014113	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	171749	95014113	46199318	9799	17511											
IARS	3376	broad.mit.edu	37	chr9	95019019	95019019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaaggacaggatccaccGgtctgtaatgttggggcttt	13	8	1	1	rs144846345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95019019G>A	ENST00000375643.3	-	20	2346	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.R694W|IARS_ENST00000447699.2_Missense_Mutation_p.R584W	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	694					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGGATCCACCGGTCTGTAATG	0.448													False	0	False	9:95019019	0	A	95019019	G	A	95019019	3	1	88	1	0	0	0	0	1	0	0	0	7523	1115	39	1	1768	1	IARS	9	95019019	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4906	95019019	46194412	9800	17512											
IARS	3376	broad.mit.edu	37	chr9	95032245	95032245	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagctgggcactgctttgTaaattagaggagtgtctgat	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95032245T>C	ENST00000375643.3	-	13	1492	c.1226A>G	c.(1225-1227)tAc>tGc	p.Y409C	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.Y409C|IARS_ENST00000447699.2_Missense_Mutation_p.Y299C	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	409					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CACTGCTTTGTAAATTAGAGG	0.478													False	0	True	9:95032245	0	C	95032245	T	C	95032245	3	2	88	1	0	0	0	0	1	0	0	0	7523	1638	57	4	2650	4	IARS	9	95032245	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13226	95032245	46181186	9801	17513											
IARS	3376	broad.mit.edu	37	chr9	95043153	95043153	+	Translation_Start_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccaaagggaaagttacaAatactgaaggatcttgaaca	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95043153A>C	ENST00000375629.3	-	0	699				IARS_ENST00000375643.3_Missense_Mutation_p.F207C|IARS_ENST00000443024.2_Missense_Mutation_p.F207C|IARS_ENST00000447699.2_Missense_Mutation_p.F97C			P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase						isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GAAAGTTACAAATACTGAAGG	0.368													False	0	True	9:95043153	0	C	95043153	A	C	95043153	1	2	88	1	0	0	0	0	0	0	0	0	7523	14	1	4		4	IARS	9	95043153	Translation_Start_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10908	95043153	46170278	9802	17514											
NOL8	55035	broad.mit.edu	37	chr9	95069174	95069174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aacataaaacatacttaaatTtcttagcagctactgatcct	3	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95069174T>G	ENST00000545558.1	-	11	3311	c.2819A>C	c.(2818-2820)aAa>aCa	p.K940T	NOL8_ENST00000542053.1_Missense_Mutation_p.K872T|NOL8_ENST00000358855.4_Missense_Mutation_p.K872T|NOL8_ENST00000535387.1_Missense_Mutation_p.K902T|NOL8_ENST00000442668.2_Missense_Mutation_p.K940T			Q76FK4	NOL8_HUMAN	nucleolar protein 8	940					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ATACTTAAATTTCTTAGCAGC	0.343													False	0	True	9:95069174	0	G	95069174	T	G	95069174	3	3	88	1	0	0	0	0	1	0	0	0	10595	1841	64	4	712	4	NOL8	9	95069174	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26021	95069174	46144257	9803	17515											
NOL8	55035	broad.mit.edu	37	chr9	95073540	95073540	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttatcctctggatgaccaTcctagggaggccatcgaaag	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95073540T>C	ENST00000545558.1	-	8	2852	c.2360A>G	c.(2359-2361)gAt>gGt	p.D787G	NOL8_ENST00000542053.1_Splice_Site_p.D719G|NOL8_ENST00000358855.4_Splice_Site_p.D719G|NOL8_ENST00000535387.1_Intron|NOL8_ENST00000442668.2_Splice_Site_p.D787G			Q76FK4	NOL8_HUMAN	nucleolar protein 8	787					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGGATGACCATCCTAGGGAGG	0.438													False	0	False	9:95073540	0	C	95073540	T	C	95073540	5	2	88	1	0	0	0	0	0	0	1	0	10595	1449	50	4	1183	4	NOL8	9	95073540	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4366	95073540	46139891	9804	17516											
NOL8	55035	broad.mit.edu	37	chr9	95078044	95078044	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttcttggcagtttccAagccagaagtcttaaaaggt	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95078044A>G	ENST00000545558.1	-	7	1355	c.863T>C	c.(862-864)tTg>tCg	p.L288S	NOL8_ENST00000542053.1_Missense_Mutation_p.L220S|NOL8_ENST00000358855.4_Missense_Mutation_p.L220S|NOL8_ENST00000535387.1_Missense_Mutation_p.L288S|NOL8_ENST00000442668.2_Missense_Mutation_p.L288S			Q76FK4	NOL8_HUMAN	nucleolar protein 8	288					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GGCAGTTTCCAAGCCAGAAGT	0.353													False	0	False	9:95078044	0	G	95078044	A	G	95078044	3	3	88	1	0	0	0	0	1	0	0	0	10595	131	5	4	2684	4	NOL8	9	95078044	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4504	95078044	46135387	9805	17517											
ECM2	1842	broad.mit.edu	37	chr9	95277420	95277420	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attggtaggttctctttgttCtgaagaatcaccagaaaatt	8	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95277420C>A	ENST00000344604.5	-	4	696	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	ECM2_ENST00000444490.2_Splice_Site|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	183					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCTCTTTGTTCTGAAGAATCA	0.403													False	0	False	9:95277420	0	A	95277420	C	A	95277420	4	1	88	1	0	0	0	0	0	1	0	0	4928	922	32	3	1580	3	ECM2	9	95277420	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199376	95277420	45936011	9806	17518											
ECM2	1842	broad.mit.edu	37	chr9	95284865	95284865	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttctcttacctggtaacAcattataacttgattctact	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95284865A>G	ENST00000344604.5	-	2	433	c.284T>C	c.(283-285)gTg>gCg	p.V95A	ECM2_ENST00000444490.2_Missense_Mutation_p.V95A|ECM2_ENST00000375540.1_Missense_Mutation_p.V95A|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	95					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ACCTGGTAACACATTATAACT	0.418													False	0	False	9:95284865	0	G	95284865	A	G	95284865	3	3	88	1	0	0	0	0	1	0	0	0	4928	159	6	4	1851	4	ECM2	9	95284865	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7445	95284865	45928566	9807	17519											
BICD2	23299	broad.mit.edu	37	chr9	95481113	95481113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagccaggcgaggggctgCtgtcccccgtcccaccatct	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95481113C>A	ENST00000356884.6	-	5	1881	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	BICD2_ENST00000375512.3_Missense_Mutation_p.S605I	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	605					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGAGGGGCTGCTGTCCCCCGT	0.677													False	0	False	9:95481113	0	A	95481113	C	A	95481113	3	1	88	1	0	0	0	0	1	0	0	0	1434	797	28	3	775	3	BICD2	9	95481113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196248	95481113	45732318	9808	17520											
ZNF484	83744	broad.mit.edu	37	chr9	95609118	95609118	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aattttctggtgtgtaaagaGatttgatctgtcagtaaaag	10	3	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95609118G>T	ENST00000395505.2	-	3	1935	c.1843C>A	c.(1843-1845)Ctc>Atc	p.L615I	ZNF484_ENST00000375495.3_Missense_Mutation_p.L651I|ZNF484_ENST00000395506.3_Missense_Mutation_p.L653I|ZNF484_ENST00000332591.6_Missense_Mutation_p.L615I|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGTGTAAAGAGATTTGATCTG	0.423													False	0	False	9:95609118	0	T	95609118	G	T	95609118	3	4	88	1	0	0	0	0	1	0	0	0	18020	942	33	3	611	3	ZNF484	9	95609118	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128005	95609118	45604313	9809	17521											
ZNF484	83744	broad.mit.edu	37	chr9	95610117	95610117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcataaggagttttctgacGgtttgacttgagggaaaaat	11	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95610117G>A	ENST00000395505.2	-	3	936	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	ZNF484_ENST00000375495.3_Missense_Mutation_p.R318C|ZNF484_ENST00000395506.3_Missense_Mutation_p.R320C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R282C|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTTTTCTGACGGTTTGACTTG	0.428													False	0	False	9:95610117	0	A	95610117	G	A	95610117	3	1	88	1	0	0	0	0	1	0	0	0	18020	1116	39	1	1610	1	ZNF484	9	95610117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	999	95610117	45603314	9810	17522											
NINJ1	4814	broad.mit.edu	37	chr9	95888858	95888858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcatgctctcggctgcGctcttcttgctggcgtaatg	11	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95888858G>A	ENST00000375446.4	-	2	208	c.138C>T	c.(136-138)agC>agT	p.S46S		NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	46					cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						TCTCGGCTGCGCTCTTCTTGC	0.667													False	0	False	9:95888858	0	A	95888858	G	A	95888858	2	1	88	1	0	0	0	0	0	0	0	1	10486	1078	38	1		1	NINJ1	9	95888858	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278741	95888858	45324573	9811	17523											
WNK2	65268	broad.mit.edu	37	chr9	95947834	95947834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccgcggttccttcaagaCggtctacaaggggctggaca	15	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95947834C>T	ENST00000297954.4	+	1	623	c.623C>T	c.(622-624)aCg>aTg	p.T208M	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.T208M|WNK2_ENST00000395475.2_Missense_Mutation_p.T194M	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	208	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCCTTCAAGACGGTCTACAAG	0.667													False	0	False	9:95947834	0	T	95947834	C	T	95947834	3	4	88	1	0	0	0	0	1	0	0	0	17462	536	19	1	625	1	WNK2	9	95947834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58976	95947834	45265597	9812	17524											
WNK2	65268	broad.mit.edu	37	chr9	96031161	96031161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccctgtctcccatggcGcagagcagcctgtggggctg	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96031161G>A	ENST00000297954.4	+	19	4073	c.4073G>A	c.(4072-4074)cGc>cAc	p.R1358H	WNK2_ENST00000356055.3_Intron|WNK2_ENST00000349097.3_Missense_Mutation_p.R970H|WNK2_ENST00000427277.2_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000395475.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1358					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTCCCATGGCGCAGAGCAGCC	0.592													False	0	False	9:96031161	0	A	96031161	G	A	96031161	3	1	88	1	0	0	0	0	1	0	0	0	17462	1102	38	1		1	WNK2	9	96031161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83327	96031161	45182270	9813	17525											
WNK2	65268	broad.mit.edu	37	chr9	96051635	96051635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctcggccctggagtcGgatggggaagggccgccccc	15	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96051635G>A	ENST00000297954.4	+	20	4710	c.4710G>A	c.(4708-4710)tcG>tcA	p.S1570S	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Silent_p.S1182S|WNK2_ENST00000427277.2_Silent_p.S1145S|WNK2_ENST00000395477.2_Silent_p.S1533S|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1570					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCTGGAGTCGGATGGGGAAG	0.701													False	0	False	9:96051635	0	A	96051635	G	A	96051635	2	1	88	1	0	0	0	0	0	0	0	1	17462	1103	39	1		1	WNK2	9	96051635	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20474	96051635	45161796	9814	17526											
WNK2	65268	broad.mit.edu	37	chr9	96061420	96061420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccagtgtggggctcactGcagacagcacgggcctgagc	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96061420G>A	ENST00000297954.4	+	25	6103	c.6103G>A	c.(6103-6105)Gca>Aca	p.A2035T	WNK2_ENST00000356055.3_Silent_p.L358L|WNK2_ENST00000349097.3_Missense_Mutation_p.A1647T|WNK2_ENST00000427277.2_Missense_Mutation_p.A1610T|WNK2_ENST00000395477.2_Missense_Mutation_p.A1998T|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2035					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGGGCTCACTGCAGACAGCAC	0.672													False	0	False	9:96061420	0	A	96061420	G	A	96061420	3	1	88	1	0	0	0	0	1	0	0	0	17462	1319	46	2	6086	2	WNK2	9	96061420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9785	96061420	45152011	9815	17527											
FAM120A	23196	broad.mit.edu	37	chr9	96233472	96233472	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaagtgattggtttctgcaGagagaatggtttccatggct	14	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96233472G>A	ENST00000277165.6	+	2	718	c.524G>A	c.(523-525)aGa>aAa	p.R175K	FAM120A_ENST00000333936.5_Missense_Mutation_p.R175K|FAM120A_ENST00000340893.4_Missense_Mutation_p.R175K|FAM120A_ENST00000375389.3_Missense_Mutation_p.R175K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	175						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGTTTCTGCAGAGAGAATGGT	0.463													False	0	True	9:96233472	0	A	96233472	G	A	96233472	3	1	88	1	0	0	0	0	1	0	0	0	5451	942	33	2	530	2	FAM120A	9	96233472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172052	96233472	44979959	9816	17528											
PHF2	5253	broad.mit.edu	37	chr9	96392276	96392276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggggtggaagaggaggaGgcgcccgacatcgacatata	17	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96392276G>A	ENST00000359246.4	+	2	490	c.123G>A	c.(121-123)gaG>gaA	p.E41E	PHF2_ENST00000375376.4_Silent_p.E41E	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	41				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637).	liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AAGAGGAGGAGGCGCCCGACA	0.542													False	0	True	9:96392276	0	A	96392276	G	A	96392276	2	1	88	1	0	0	0	0	0	0	0	1	11899	991	35	2		2	PHF2	9	96392276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158804	96392276	44821155	9817	17529											
PHF2	5253	broad.mit.edu	37	chr9	96425295	96425295	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagagcaagtcagaggccaAgtggaagtacaaggtgagaa	14	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96425295A>G	ENST00000359246.4	+	13	2172	c.1805A>G	c.(1804-1806)aAg>aGg	p.K602R	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	602	Lys-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TCAGAGGCCAAGTGGAAGTAC	0.502													False	0	False	9:96425295	0	G	96425295	A	G	96425295	3	3	88	1	0	0	0	0	1	0	0	0	11899	72	3	4	1855	4	PHF2	9	96425295	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33019	96425295	44788136	9818	17530											
PHF2	5253	broad.mit.edu	37	chr9	96435918	96435918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattcagggaatgctgtcCatggccaacctgcaggcctc	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96435918C>T	ENST00000359246.4	+	18	2767	c.2400C>T	c.(2398-2400)tcC>tcT	p.S800S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	800					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GAATGCTGTCCATGGCCAACC	0.667													False	0	False	9:96435918	0	T	96435918	C	T	96435918	2	4	88	1	0	0	0	0	0	0	0	1	11899	581	21	2		2	PHF2	9	96435918	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10623	96435918	44777513	9819	17531											
PTPDC1	138639	broad.mit.edu	37	chr9	96846893	96846893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccgccggcactccacCtcagacccagtactgcggct	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96846893C>T	ENST00000288976.3	+	1	148	c.81C>T	c.(79-81)acC>acT	p.T27T	PTPDC1_ENST00000375360.3_Intron	NM_001253829.1|NM_152422.4	NP_001240758.1|NP_689635.3	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	0				K -> T (in Ref. 1; AAO13168).			protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GGCACTCCACCTCAGACCCAG	0.682													False	0	False	9:96846893	0	T	96846893	C	T	96846893	2	4	88	1	0	0	0	0	0	0	0	1	12850	668	24	2		2	PTPDC1	9	96846893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410975	96846893	44366538	9820	17532											
PTPDC1	138639	broad.mit.edu	37	chr9	96846909	96846909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctcagacccagtactgCggctgcagcaggcccggcgg	13	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96846909C>T	ENST00000288976.3	+	1	164	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	PTPDC1_ENST00000375360.3_Intron	NM_001253829.1|NM_152422.4	NP_001240758.1|NP_689635.3	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	0							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCCAGTACTGCGGCTGCAGCA	0.667													False	0	False	9:96846909	0	T	96846909	C	T	96846909	3	4	88	1	0	0	0	0	1	0	0	0	12850	759	27	1	185	1	PTPDC1	9	96846909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	96846909	44366522	9821	17533											
PTPDC1	138639	broad.mit.edu	37	chr9	96859904	96859904	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcaaattgctgctggaCttagcggagaacaggccagt	13	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96859904C>A	ENST00000375360.3	+	7	1234	c.894C>A	c.(892-894)gaC>gaA	p.D298E	PTPDC1_ENST00000288976.3_Missense_Mutation_p.D350E	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	298							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGCTGCTGGACTTAGCGGAGA	0.463													False	0	False	9:96859904	0	A	96859904	C	A	96859904	3	1	88	1	0	0	0	0	1	0	0	0	12850	564	20	3	1158	3	PTPDC1	9	96859904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12995	96859904	44353527	9822	17534											
PTPDC1	138639	broad.mit.edu	37	chr9	96860214	96860214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcagatttaaagagggccGagaacctcctggagcaaggg	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96860214G>A	ENST00000375360.3	+	7	1544	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E454K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	402							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAAGAGGGCCGAGAACCTCCT	0.527													False	0	False	9:96860214	0	A	96860214	G	A	96860214	3	1	88	1	0	0	0	0	1	0	0	0	12850	1059	37	1	1468	1	PTPDC1	9	96860214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	310	96860214	44353217	9823	17535											
PTPDC1	138639	broad.mit.edu	37	chr9	96860569	96860569	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatccaaaccctgctcaccAgcaagtgtctcactgtcagt	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96860569A>G	ENST00000375360.3	+	7	1899	c.1559A>G	c.(1558-1560)cAg>cGg	p.Q520R	PTPDC1_ENST00000288976.3_Missense_Mutation_p.Q572R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	520							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCTGCTCACCAGCAAGTGTCT	0.552													False	0	False	9:96860569	0	G	96860569	A	G	96860569	3	3	88	1	0	0	0	0	1	0	0	0	12850	188	7	4	1823	4	PTPDC1	9	96860569	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	355	96860569	44352862	9824	17536											
HIATL1	84641	broad.mit.edu	37	chr9	97220650	97220650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagaggactatgcaatggCctggggccagcactgtatgg	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97220650C>T	ENST00000428393.2	+	9	916	c.880C>T	c.(880-882)Cct>Tct	p.P294S	HIATL1_ENST00000375344.3_Silent_p.G391G			Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	0					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TATGCAATGGCCTGGGGCCAG	0.448													False	0	False	9:97220650	0	T	97220650	C	T	97220650	3	4	88	1	0	0	0	0	1	0	0	0	7145	726	26	2	1215	2	HIATL1	9	97220650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	360081	97220650	43992781	9825	17537											
FBP2	8789	broad.mit.edu	37	chr9	97321313	97321313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggactcgctggtgaattgcCtcgggcttcacgtccagtac	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97321313C>A	ENST00000375337.3	-	7	993	c.927G>T	c.(925-927)gaG>gaT	p.E309D	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	309					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GGTGAATTGCCTCGGGCTTCA	0.572													False	0	False	9:97321313	0	A	97321313	C	A	97321313	3	1	88	1	0	0	0	0	1	0	0	0	5746	680	24	3	96	3	FBP2	9	97321313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100663	97321313	43892118	9826	17538											
C9orf3	84909	broad.mit.edu	37	chr9	97563133	97563133	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcatcgggtctttgccCctgtgtgcctcacgggtgcc	11	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97563133C>A	ENST00000375315.2	+	4	1213	c.1213C>A	c.(1213-1215)Cct>Act	p.P405T	C9orf3_ENST00000297979.5_Missense_Mutation_p.P405T|C9orf3_ENST00000395357.2_Missense_Mutation_p.P25T|C9orf3_ENST00000277198.2_Missense_Mutation_p.P405T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	405					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGTCTTTGCCCCTGTGTGCCT	0.582													False	0	True	9:97563133	0	A	97563133	C	A	97563133	3	1	88	1	0	0	0	0	1	0	0	0	2497	623	22	3	1227	3	C9orf3	9	97563133	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241820	97563133	43650298	9827	17539											
FANCC	2176	broad.mit.edu	37	chr9	97879632	97879632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaccatggcaagagatGgagaagtgtaaggaaagtag	15	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97879632G>A	ENST00000289081.3	-	11	1291	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	FANCC_ENST00000464653.1_5'UTR|FANCC_ENST00000375305.1_Missense_Mutation_p.P346L	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	346					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GGCAAGAGATGGAGAAGTGTA	0.458			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	9:97879632	0	A	97879632	G	A	97879632	3	1	88	1	0	0	0	0	1	0	0	0	5704	1348	47	2	659	2	FANCC	9	97879632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	316499	97879632	43333799	9828	17540											
PTCH1	5727	broad.mit.edu	37	chr9	98209400	98209400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggcggcgggtgcacggCgacagtcacggaggcagaag	19	10	1	1	rs111481152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98209400C>T	ENST00000430669.2	-	23	4525	c.3940G>A	c.(3940-3942)Gcc>Acc	p.A1314T	PTCH1_ENST00000331920.6_Missense_Mutation_p.A1380T|PTCH1_ENST00000421141.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000375274.2_Missense_Mutation_p.A1379T|PTCH1_ENST00000418258.1_Missense_Mutation_p.A1229T|PTCH1_ENST00000437951.1_Missense_Mutation_p.A1314T|PTCH1_ENST00000429896.2_Missense_Mutation_p.A1229T			Q13635	PTC1_HUMAN	patched 1	1380					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGGTGCACGGCGACAGTCACG	0.687													False	0	False	9:98209400	0	T	98209400	C	T	98209400	3	4	88	1	0	0	0	0	1	0	0	0	12806	768	27	1	209	1	PTCH1	9	98209400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	329768	98209400	43004031	9829	17541											
PTCH1	5727	broad.mit.edu	37	chr9	98211451	98211451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagtgccgaagctcctcgCtgaggcctgacactgtcgtc	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98211451C>T	ENST00000430669.2	-	22	4091	c.3506G>A	c.(3505-3507)aGc>aAc	p.S1169N	PTCH1_ENST00000331920.6_Missense_Mutation_p.S1235N|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000375274.2_Missense_Mutation_p.S1234N|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1084N|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1169N|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1084N			Q13635	PTC1_HUMAN	patched 1	1235					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGCTCCTCGCTGAGGCCTGA	0.657													False	0	False	9:98211451	0	T	98211451	C	T	98211451	3	4	88	1	0	0	0	0	1	0	0	0	12806	797	28	2	647	2	PTCH1	9	98211451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2051	98211451	43001980	9830	17542											
PTCH1	5727	broad.mit.edu	37	chr9	98212127	98212127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgtcactactgacctcaGgatatggtccaaagaaagac	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98212127G>T	ENST00000430669.2	-	21	3932	c.3347C>A	c.(3346-3348)cCt>cAt	p.P1116H	PTCH1_ENST00000331920.6_Missense_Mutation_p.P1182H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000375274.2_Missense_Mutation_p.P1181H|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1031H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1116H|PTCH1_ENST00000429896.2_Missense_Mutation_p.P1031H			Q13635	PTC1_HUMAN	patched 1	1182					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTGACCTCAGGATATGGTCC	0.537													False	0	False	9:98212127	0	T	98212127	G	T	98212127	3	4	88	1	0	0	0	0	1	0	0	0	12806	1000	35	3	810	3	PTCH1	9	98212127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	676	98212127	43001304	9831	17543											
PTCH1	5727	broad.mit.edu	37	chr9	98239123	98239123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catccacaccaacaccaagaGcgagaaatggcaaaacctac	6	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98239123G>T	ENST00000430669.2	-	11	1907	c.1322C>A	c.(1321-1323)gCt>gAt	p.A441D	PTCH1_ENST00000331920.6_Missense_Mutation_p.A507D|PTCH1_ENST00000421141.1_Missense_Mutation_p.A356D|PTCH1_ENST00000375274.2_Missense_Mutation_p.A506D|PTCH1_ENST00000418258.1_Missense_Mutation_p.A356D|PTCH1_ENST00000437951.1_Missense_Mutation_p.A441D|PTCH1_ENST00000429896.2_Missense_Mutation_p.A356D			Q13635	PTC1_HUMAN	patched 1	507	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACACCAAGAGCGAGAAATGG	0.428													False	0	False	9:98239123	0	T	98239123	G	T	98239123	3	4	88	1	0	0	0	0	1	0	0	0	12806	971	34	3	2875	3	PTCH1	9	98239123	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26996	98239123	42974308	9832	17544											
HSD17B3	3293	broad.mit.edu	37	chr9	98997811	98997811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagcctttggaaggcaccGctgtagaaggcccaggccgg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98997811G>A	ENST00000375263.3	-	11	911	c.864C>T	c.(862-864)agC>agT	p.S288S	HSD17B3_ENST00000375262.2_Silent_p.S238S|HSD17B3_ENST00000464104.1_5'UTR	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	288					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	GGAAGGCACCGCTGTAGAAGG	0.537													False	0	False	9:98997811	0	A	98997811	G	A	98997811	2	1	88	1	0	0	0	0	0	0	0	1	7432	1078	38	1		1	HSD17B3	9	98997811	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	758688	98997811	42215620	9833	17545											
HABP4	22927	broad.mit.edu	37	chr9	99220689	99220689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggactcctagaagaggggaGcagcaaggatggaatgacag	16	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99220689G>T	ENST00000375249.4	+	2	453	c.378G>T	c.(376-378)gaG>gaT	p.E126D	HABP4_ENST00000375251.3_Missense_Mutation_p.E126D	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	126					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GAAGAGGGGAGCAGCAAGGAT	0.527													False	0	False	9:99220689	0	T	99220689	G	T	99220689	3	4	88	1	0	0	0	0	1	0	0	0	6986	962	34	3	384	3	HABP4	9	99220689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222878	99220689	41992742	9834	17546											
CDC14B	8555	broad.mit.edu	37	chr9	99266070	99266070	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttagtccttgaaatggagaGactacagggggaaaaaaaag	12	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99266070G>A	ENST00000375241.1	-	14	1913	c.1462C>T	c.(1462-1464)Ctc>Ttc	p.L488F	CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000375242.3_Splice_Site_p.L451F|CDC14B_ENST00000375240.3_Splice_Site_p.L449F|CDC14B_ENST00000463569.1_3'UTR	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	488					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GAAATGGAGAGACTACAGGGG	0.398													False	0	True	9:99266070	0	A	99266070	G	A	99266070	5	1	88	1	0	0	0	0	0	0	1	0	3080	956	33	2	38	2	CDC14B	9	99266070	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45381	99266070	41947361	9835	17547											
ZNF510	22869	broad.mit.edu	37	chr9	99521177	99521177	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtgagtcctttgatgTattctgaggtttgatttctg	10	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99521177T>C	ENST00000375231.1	-	6	2585	c.1935A>G	c.(1933-1935)atA>atG	p.I645M	ZNF510_ENST00000223428.4_Missense_Mutation_p.I645M			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCTTTGATGTATTCTGAGGT	0.383													False	0	False	9:99521177	0	C	99521177	T	C	99521177	3	2	88	1	0	0	0	0	1	0	0	0	18037	1628	57	4	120	4	ZNF510	9	99521177	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	255107	99521177	41692254	9836	17548											
ZNF782	158431	broad.mit.edu	37	chr9	99580223	99580223	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttaatcccctgggtgggcTttctgatgttctctaaggct	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99580223T>G	ENST00000481138.1	-	6	2743	c.2082A>C	c.(2080-2082)aaA>aaC	p.K694N	ZNF782_ENST00000535338.1_Missense_Mutation_p.K562N	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CTGGGTGGGCTTTCTGATGTT	0.388													False	0	True	9:99580223	0	G	99580223	T	G	99580223	3	3	88	1	0	0	0	0	1	0	0	0	18237	1606	56	4	21	4	ZNF782	9	99580223	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59046	99580223	41633208	9837	17549											
ZNF782	158431	broad.mit.edu	37	chr9	99581465	99581465	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttttgtgagtgattctacaGaaacaatttccagtatcatt	7	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99581465G>T	ENST00000481138.1	-	6	1501	c.840C>A	c.(838-840)ttC>ttA	p.F280L	ZNF782_ENST00000535338.1_Missense_Mutation_p.F148L	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGATTCTACAGAAACAATTTC	0.358													False	0	True	9:99581465	0	T	99581465	G	T	99581465	3	4	88	1	0	0	0	0	1	0	0	0	18237	933	33	3	1263	3	ZNF782	9	99581465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1242	99581465	41631966	9838	17550											
ZNF782	158431	broad.mit.edu	37	chr9	99581773	99581773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgagtgttagttctgcCatccttaatactgatgagcc	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99581773C>T	ENST00000481138.1	-	6	1193	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	ZNF782_ENST00000535338.1_Missense_Mutation_p.G46S|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTAGTTCTGCCATCCTTAATA	0.413													False	0	False	9:99581773	0	T	99581773	C	T	99581773	3	4	88	1	0	0	0	0	1	0	0	0	18237	594	21	2	1571	2	ZNF782	9	99581773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308	99581773	41631658	9839	17551											
TSTD2	158427	broad.mit.edu	37	chr9	100365039	100365039	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtcccagcgggctccacaGtatgaacactctggggagga	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100365039G>T	ENST00000341170.4	-	10	1645	c.1263C>A	c.(1261-1263)taC>taA	p.Y421*		NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	421										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GGGCTCCACAGTATGAACACT	0.512													False	0	False	9:100365039	0	T	100365039	G	T	100365039	4	4	88	1	0	0	0	0	0	1	0	0	16759	1024	36	3	291	3	TSTD2	9	100365039	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	783266	100365039	40848392	9840	17552											
FOXE1	2304	broad.mit.edu	37	chr9	100617275	100617275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccatgctcgccatgctgCcgcttatcccggtgggatag	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100617275C>T	ENST00000375123.3	+	1	1740	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	360					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				CGCCATGCTGCCGCTTATCCC	0.642													False	0	False	9:100617275	0	T	100617275	C	T	100617275	3	4	88	1	0	0	0	0	1	0	0	0	6045	739	26	2	1081	2	FOXE1	9	100617275	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	252236	100617275	40596156	9841	17553											
HEMGN	55363	broad.mit.edu	37	chr9	100693016	100693016	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcttctcgtttagccatatCttggtacattttgaaaggat	7	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100693016C>A	ENST00000259456.3	-	4	804	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	221					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTAGCCATATCTTGGTACATT	0.418													False	0	False	9:100693016	0	A	100693016	C	A	100693016	3	1	88	1	0	0	0	0	1	0	0	0	7097	913	32	3	801	3	HEMGN	9	100693016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75741	100693016	40520415	9842	17554											
TRIM14	9830	broad.mit.edu	37	chr9	100850171	100850171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccagagcgcgtcgaaccGcagcacgggcacgggcccca	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100850171G>A	ENST00000341469.2	-	6	919	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000538344.1_Missense_Mutation_p.R85W|TRIM14_ENST00000342043.3_Missense_Mutation_p.R304W|TRIM14_ENST00000375098.3_Missense_Mutation_p.R304W	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	304	B30.2/SPRY.					cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCGTCGAACCGCAGCACGGGC	0.726													False	0	False	9:100850171	0	A	100850171	G	A	100850171	3	1	88	1	0	0	0	0	1	0	0	0	16572	1086	38	1	422	1	TRIM14	9	100850171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157155	100850171	40363260	9843	17555											
TBC1D2	55357	broad.mit.edu	37	chr9	100961829	100961829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccgcagctgtttcatgCggaaggggttcatgtcattg	14	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100961829C>T	ENST00000375066.5	-	13	2679	c.2588G>A	c.(2587-2589)cGc>cAc	p.R863H	TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R414H|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R656H	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	874						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CTGTTTCATGCGGAAGGGGTT	0.632													False	0	False	9:100961829	0	T	100961829	C	T	100961829	3	4	88	1	0	0	0	0	1	0	0	0	15690	768	27	1	169	1	TBC1D2	9	100961829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111658	100961829	40251602	9844	17556											
TBC1D2	55357	broad.mit.edu	37	chr9	100965573	100965573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggccccacttacctgGgatgccgtcagcgtgttgca	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100965573G>A	ENST00000375066.5	-	10	2359	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	TBC1D2_ENST00000375064.1_Silent_p.S756S|TBC1D2_ENST00000375063.1_Silent_p.S296S|TBC1D2_ENST00000342112.5_Silent_p.S538S	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	756	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CACTTACCTGGGATGCCGTCA	0.582													False	0	True	9:100965573	0	A	100965573	G	A	100965573	2	1	88	1	0	0	0	0	0	0	0	1	15690	1219	43	2		2	TBC1D2	9	100965573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3744	100965573	40247858	9845	17557											
TBC1D2	55357	broad.mit.edu	37	chr9	101017623	101017623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcgtcgtagaagaaccaGcgggatttccagccccggat	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101017623G>A	ENST00000375066.5	-	1	292	c.201C>T	c.(199-201)cgC>cgT	p.R67R	TBC1D2_ENST00000375064.1_Silent_p.R67R|TBC1D2_ENST00000342112.5_5'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	67	Interaction with CADH1.|PH.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGAAGAACCAGCGGGATTTCC	0.582													False	0	False	9:101017623	0	A	101017623	G	A	101017623	2	1	88	1	0	0	0	0	0	0	0	1	15690	958	34	2		2	TBC1D2	9	101017623	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52050	101017623	40195808	9846	17558											
GABBR2	9568	broad.mit.edu	37	chr9	101125090	101125090	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcagcagcatgccccccacGatcacaagcagtttctggtc	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101125090G>A	ENST00000259455.2	-	13	2259	c.1800C>T	c.(1798-1800)atC>atT	p.I600I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	600					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGCCCCCCACGATCACAAGCA	0.592													False	0	False	9:101125090	0	A	101125090	G	A	101125090	2	1	88	1	0	0	0	0	0	0	0	1	6198	1048	37	1		1	GABBR2	9	101125090	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107467	101125090	40088341	9847	17559											
GABBR2	9568	broad.mit.edu	37	chr9	101304292	101304292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataagggtattttttcttatCggctagaacaggcgtggttg	12	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101304292C>T	ENST00000259455.2	-	3	952	c.493G>A	c.(493-495)Gat>Aat	p.D165N	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	165					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTTTTCTTATCGGCTAGAACA	0.468													False	0	False	9:101304292	0	T	101304292	C	T	101304292	3	4	88	1	0	0	0	0	1	0	0	0	6198	884	31	1	2400	1	GABBR2	9	101304292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179202	101304292	39909139	9848	17560											
GABBR2	9568	broad.mit.edu	37	chr9	101340265	101340265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcaatgatggatgtgacGgatggacagacgcctccaaa	12	9	1	3	rs56067237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101340265G>A	ENST00000259455.2	-	2	870	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	137					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGGATGTGACGGATGGACAGA	0.512													False	0	False	9:101340265	0	A	101340265	G	A	101340265	2	1	88	1	0	0	0	0	0	0	0	1	6198	1103	39	1		1	GABBR2	9	101340265	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35973	101340265	39873166	9849	17561											
ANKS6	203286	broad.mit.edu	37	chr9	101518814	101518814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgggtgagggggagggCgtgagggttggagaggtgct	23	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101518814C>T	ENST00000353234.4	-	12	2261	c.2214G>A	c.(2212-2214)acG>acA	p.T738T	ANKS6_ENST00000375018.1_Silent_p.T739T|ANKS6_ENST00000375019.2_Silent_p.T437T|ANKS6_ENST00000540940.1_Silent_p.T543T			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	738	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AGGGGGAGGGCGTGAGGGTTG	0.552													False	0	True	9:101518814	0	T	101518814	C	T	101518814	2	4	88	1	0	0	0	0	0	0	0	1	692	755	27	1		1	ANKS6	9	101518814	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178549	101518814	39694617	9850	17562											
ANKS6	203286	broad.mit.edu	37	chr9	101536254	101536254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcccgttgtgacgcgtccGggaccgatcagagctccaca	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101536254G>A	ENST00000353234.4	-	9	1773	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	ANKS6_ENST00000375018.1_Missense_Mutation_p.R576W|ANKS6_ENST00000375019.2_Missense_Mutation_p.R275W|ANKS6_ENST00000540940.1_Missense_Mutation_p.R381W			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	576										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGACGCGTCCGGGACCGATCA	0.642													False	0	True	9:101536254	0	A	101536254	G	A	101536254	3	1	88	1	0	0	0	0	1	0	0	0	692	1115	39	1	917	1	ANKS6	9	101536254	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17440	101536254	39677177	9851	17563											
ANKS6	203286	broad.mit.edu	37	chr9	101536359	101536359	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgaggggagctccgtttcGaagctgaaaaagacaggctg	16	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101536359G>A	ENST00000353234.4	-	9	1668	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	ANKS6_ENST00000375018.1_Nonsense_Mutation_p.R541*|ANKS6_ENST00000375019.2_Nonsense_Mutation_p.R240*|ANKS6_ENST00000540940.1_Nonsense_Mutation_p.R346*			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	541										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCTCCGTTTCGAAGCTGAAAA	0.557													False	0	False	9:101536359	0	A	101536359	G	A	101536359	4	1	88	1	0	0	0	0	0	1	0	0	692	1066	37	1	1022	1	ANKS6	9	101536359	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105	101536359	39677072	9852	17564											
ANKS6	203286	broad.mit.edu	37	chr9	101552487	101552487	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtcttctccagcacgctgAggtggtcagggttggcgccc	15	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101552487A>G	ENST00000353234.4	-	2	808	c.761T>C	c.(760-762)cTc>cCc	p.L254P	ANKS6_ENST00000375018.1_Missense_Mutation_p.L254P|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000540940.1_Missense_Mutation_p.L59P			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	254										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGCACGCTGAGGTGGTCAGG	0.657													False	0	False	9:101552487	0	G	101552487	A	G	101552487	3	3	88	1	0	0	0	0	1	0	0	0	692	304	11	4	1910	4	ANKS6	9	101552487	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16128	101552487	39660944	9853	17565											
COL15A1	1306	broad.mit.edu	37	chr9	101747863	101747863	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagagactgcttcccagggTcacctggacctcacgcagct	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101747863T>C	ENST00000375001.3	+	3	540	c.117T>C	c.(115-117)ggT>ggC	p.G39G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	39					angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTTCCCAGGGTCACCTGGACC	0.557													False	0	True	9:101747863	0	C	101747863	T	C	101747863	2	2	88	1	0	0	0	0	0	0	0	1	3695	1654	58	4		4	COL15A1	9	101747863	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	195376	101747863	39465568	9854	17566											
COL15A1	1306	broad.mit.edu	37	chr9	101748190	101748190	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctcccatgtgtcccaagaGgctgctgccttctcggtgcc	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101748190G>T	ENST00000375001.3	+	3	867	c.444G>T	c.(442-444)gaG>gaT	p.E148D		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	148	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGTCCCAAGAGGCTGCTGCCT	0.607													False	0	False	9:101748190	0	T	101748190	G	T	101748190	3	4	88	1	0	0	0	0	1	0	0	0	3695	991	35	3	454	3	COL15A1	9	101748190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	327	101748190	39465241	9855	17567											
COL15A1	1306	broad.mit.edu	37	chr9	101782700	101782700	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacatgtgggaatgaaaggAcaggctgggcccaaaggaga	16	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101782700A>G	ENST00000375001.3	+	12	2100	c.1677A>G	c.(1675-1677)ggA>ggG	p.G559G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	559	Triple-helical region 1 (COL1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAATGAAAGGACAGGCTGGGC	0.453													False	0	False	9:101782700	0	G	101782700	A	G	101782700	2	3	88	1	0	0	0	0	0	0	0	1	3695	262	10	4		4	COL15A1	9	101782700	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34510	101782700	39430731	9856	17568											
COL15A1	1306	broad.mit.edu	37	chr9	101798455	101798455	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgtttatttttccagggtCtcaaaggagagaaaggagac	11	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101798455C>A	ENST00000375001.3	+	20	2716	c.2293C>A	c.(2293-2295)Ctc>Atc	p.L765I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	765	Triple-helical region 3 (COL3).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTTCCAGGGTCTCAAAGGAGA	0.488													False	0	False	9:101798455	0	A	101798455	C	A	101798455	3	1	88	1	0	0	0	0	1	0	0	0	3695	913	32	3	2371	3	COL15A1	9	101798455	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15755	101798455	39414976	9857	17569											
TGFBR1	7046	broad.mit.edu	37	chr9	101904853	101904853	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcagctctggttggtgtcaGattatcatgagcatggatcc	11	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101904853G>A	ENST00000374994.4	+	5	958	c.841G>A	c.(841-843)Gat>Aat	p.D281N	TGFBR1_ENST00000374990.2_Missense_Mutation_p.D204N|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D285N|TGFBR1_ENST00000550253.1_Missense_Mutation_p.D212N	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	281	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTTGGTGTCAGATTATCATGA	0.408													False	0	False	9:101904853	0	A	101904853	G	A	101904853	3	1	88	1	0	0	0	0	1	0	0	0	15903	942	33	2	859	2	TGFBR1	9	101904853	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106398	101904853	39308578	9858	17570											
NR4A3	0	broad.mit.edu	37	chr9	102590550	102590550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaactcaagccttcctgcGtgtaccaaatgcagcggccc	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102590550G>A	ENST00000330847.1	+	2	303	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	NR4A3_ENST00000338488.4_Missense_Mutation_p.V76M|NR4A3_ENST00000395097.2_Missense_Mutation_p.V76M			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	76					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCCTTCCTGCGTGTACCAAAT	0.602			T	EWSR1	extraskeletal myxoid chondrosarcoma								False	0	False	9:102590550	0	A	102590550	G	A	102590550	3	1	88	1	0	0	0	0	1	0	0	0	10702	1145	40	1	265	1	NR4A3	9	102590550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	685697	102590550	38622881	9859	17571											
NR4A3	0	broad.mit.edu	37	chr9	102595604	102595604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagggaggagaggtcgtctGccttccaaaccaaagagccc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102595604G>A	ENST00000330847.1	+	4	1199	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	NR4A3_ENST00000338488.4_Silent_p.L374L|NR4A3_ENST00000395097.2_Silent_p.L374L			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	374					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAGGTCGTCTGCCTTCCAAAC	0.453			T	EWSR1	extraskeletal myxoid chondrosarcoma								False	0	False	9:102595604	0	A	102595604	G	A	102595604	2	1	88	1	0	0	0	0	0	0	0	1	10702	1306	46	2		2	NR4A3	9	102595604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5054	102595604	38617827	9860	17572											
ERP44	23071	broad.mit.edu	37	chr9	102747327	102747327	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagaatgtaagtcaaatacGaattgcttgagttttccagg	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102747327G>A	ENST00000262455.6	-	11	1240	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	347					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						AGTCAAATACGAATTGCTTGA	0.363													False	0	False	9:102747327	0	A	102747327	G	A	102747327	2	1	88	1	0	0	0	0	0	0	0	1	5275	1049	37	1		1	ERP44	9	102747327	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151723	102747327	38466104	9861	17573											
TMEFF1	8577	broad.mit.edu	37	chr9	103312424	103312424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaagatgatggactacaaTatcgaccagatgtgaaaggt	11	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103312424T>C	ENST00000374879.4	+	7	1189	c.757T>C	c.(757-759)Tat>Cat	p.Y253H	TMEFF1_ENST00000334943.6_Missense_Mutation_p.Y214H|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.I216T	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TGGACTACAATATCGACCAGA	0.353													False	0	False	9:103312424	0	C	103312424	T	C	103312424	3	2	88	1	0	0	0	0	1	0	0	0	16095	1406	49	4	783	4	TMEFF1	9	103312424	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	565097	103312424	37901007	9862	17574											
LPPR1	0	broad.mit.edu	37	chr9	104071653	104071653	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaacaatgggaacatttgTactggggacctggaagtgat	12	5	0	1	rs139319180		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104071653T>G	ENST00000374874.3	+	5	985	c.546T>G	c.(544-546)tgT>tgG	p.C182W	LPPR1_ENST00000395056.2_Missense_Mutation_p.C182W	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		182						integral to membrane	catalytic activity										GGAACATTTGTACTGGGGACC	0.507													False	0	False	9:104071653	0	G	104071653	T	G	104071653	3	3	88	1	0	0	0	0	1	0	0	0	8986	1644	57	4	560	4	LPPR1	9	104071653	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	759229	104071653	37141778	9863	17575											
BAAT	570	broad.mit.edu	37	chr9	104124866	104124866	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacagcacagaggagaataGggaggttctatcaggtggcc	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104124866G>T	ENST00000259407.2	-	4	1209	c.1101C>A	c.(1099-1101)ccC>ccA	p.P367P	BAAT_ENST00000395051.3_Silent_p.P367P	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	367					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GAGGAGAATAGGGAGGTTCTA	0.547													False	0	True	9:104124866	0	T	104124866	G	T	104124866	2	4	88	1	0	0	0	0	0	0	0	1	1284	987	35	3		3	BAAT	9	104124866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53213	104124866	37088565	9864	17576											
BAAT	570	broad.mit.edu	37	chr9	104130535	104130535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacgactggctaggaggCtggcccgaaattcaagcagc	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104130535C>T	ENST00000259407.2	-	3	644	c.536G>A	c.(535-537)aGc>aAc	p.S179N	BAAT_ENST00000395051.3_Missense_Mutation_p.S179N	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	179					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GGCTAGGAGGCTGGCCCGAAA	0.473													False	0	False	9:104130535	0	T	104130535	C	T	104130535	3	4	88	1	0	0	0	0	1	0	0	0	1284	797	28	2	728	2	BAAT	9	104130535	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5669	104130535	37082896	9865	17577											
ZNF189	7743	broad.mit.edu	37	chr9	104170227	104170227	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgttttgaacagagaTaaggatgaggagccaactgt	12	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104170227T>C	ENST00000374861.3	+	3	419	c.135T>C	c.(133-135)gaT>gaC	p.D45D	ZNF189_ENST00000259395.4_Silent_p.D17D|ZNF189_ENST00000339664.2_Silent_p.D59D	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	59	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGAACAGAGATAAGGATGAGG	0.358													False	0	False	9:104170227	0	C	104170227	T	C	104170227	2	2	88	1	0	0	0	0	0	0	0	1	17837	1403	49	4		4	ZNF189	9	104170227	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39692	104170227	37043204	9866	17578											
ZNF189	7743	broad.mit.edu	37	chr9	104170805	104170805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagccttgttaaacatcaaaGgattcatacaggtgagaaac	9	7	2	1	rs150965680		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104170805G>T	ENST00000374861.3	+	3	997	c.713G>T	c.(712-714)aGg>aTg	p.R238M	ZNF189_ENST00000259395.4_Missense_Mutation_p.R210M|ZNF189_ENST00000339664.2_Missense_Mutation_p.R252M	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	252					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAACATCAAAGGATTCATACA	0.423													False	0	True	9:104170805	0	T	104170805	G	T	104170805	3	4	88	1	0	0	0	0	1	0	0	0	17837	1000	35	3	765	3	ZNF189	9	104170805	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	578	104170805	37042626	9867	17579											
ALDOB	229	broad.mit.edu	37	chr9	104193076	104193076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctacagattcatctgcagCcaggatcccctttccattgg	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104193076C>T	ENST00000374855.4	-	2	218	c.94G>A	c.(94-96)Gct>Act	p.A32T		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	32					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCATCTGCAGCCAGGATCCCC	0.428													False	0	False	9:104193076	0	T	104193076	C	T	104193076	3	4	88	1	0	0	0	0	1	0	0	0	508	739	26	2	1032	2	ALDOB	9	104193076	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22271	104193076	37020355	9868	17580											
RNF20	56254	broad.mit.edu	37	chr9	104303164	104303164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcagctgcaggaacgtgtgGagtcttcccgccgagccgtg	14	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104303164G>A	ENST00000389120.3	+	5	625	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	179					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GGAACGTGTGGAGTCTTCCCG	0.517													False	0	False	9:104303164	0	A	104303164	G	A	104303164	3	1	88	1	0	0	0	0	1	0	0	0	13552	1175	41	2	549	2	RNF20	9	104303164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110088	104303164	36910267	9869	17581											
GRIN3A	116443	broad.mit.edu	37	chr9	104390655	104390655	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctttctcggacagttccaAagcggaatccttgggaagga	12	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104390655A>C	ENST00000361820.3	-	4	2981	c.2381T>G	c.(2380-2382)tTt>tGt	p.F794C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	794					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GACAGTTCCAAAGCGGAATCC	0.363													False	0	True	9:104390655	0	C	104390655	A	C	104390655	3	2	88	1	0	0	0	0	1	0	0	0	6830	14	1	4	990	4	GRIN3A	9	104390655	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	87491	104390655	36822776	9870	17582											
GRIN3A	116443	broad.mit.edu	37	chr9	104432737	104432737	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcactaagatgcccaAgctggtggagaagaaagggc	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104432737A>C	ENST00000361820.3	-	3	2557	c.1957T>G	c.(1957-1959)Ttg>Gtg	p.L653V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	653					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AAGATGCCCAAGCTGGTGGAG	0.537													False	0	False	9:104432737	0	C	104432737	A	C	104432737	3	2	88	1	0	0	0	0	1	0	0	0	6830	69	3	4	1418	4	GRIN3A	9	104432737	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	42082	104432737	36780694	9871	17583											
GRIN3A	116443	broad.mit.edu	37	chr9	104449311	104449311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgttgatgatagaaccaaGgtggaacttggaattattct	11	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104449311G>T	ENST00000361820.3	-	2	1471	c.871C>A	c.(871-873)Ctt>Att	p.L291I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	291					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATAGAACCAAGGTGGAACTTG	0.483													False	0	False	9:104449311	0	T	104449311	G	T	104449311	3	4	88	1	0	0	0	0	1	0	0	0	6830	1000	35	3	2508	3	GRIN3A	9	104449311	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16574	104449311	36764120	9872	17584											
CYLC2	1539	broad.mit.edu	37	chr9	105767015	105767015	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaagaggagatcgtagacaAccattatggatgtaccgttc	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:105767015A>C	ENST00000374798.3	+	4	289	c.219A>C	c.(217-219)caA>caC	p.Q73H	CYLC2_ENST00000487798.1_Missense_Mutation_p.Q73H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	73	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATCGTAGACAACCATTATGGA	0.373													False	0	False	9:105767015	0	C	105767015	A	C	105767015	3	2	88	1	0	0	0	0	1	0	0	0	4167	40	2	4	233	4	CYLC2	9	105767015	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1317704	105767015	35446416	9873	17585											
SMC2	10592	broad.mit.edu	37	chr9	106860764	106860764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaataaatatttaatcaatgGagtcaatgccaacaacacca	4	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106860764G>A	ENST00000286398.7	+	4	644	c.356G>A	c.(355-357)gGa>gAa	p.G119E	SMC2_ENST00000303219.8_Missense_Mutation_p.G119E|SMC2_ENST00000374793.3_Missense_Mutation_p.G119E|SMC2_ENST00000374787.3_Missense_Mutation_p.G119E	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	119					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TTAATCAATGGAGTCAATGCC	0.353													False	0	False	9:106860764	0	A	106860764	G	A	106860764	3	1	88	1	0	0	0	0	1	0	0	0	14863	1174	41	2	366	2	SMC2	9	106860764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1093749	106860764	34352667	9874	17586											
SMC2	10592	broad.mit.edu	37	chr9	106875687	106875687	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggctacaggaaggatcaaGaagctctagaagctgtaaaa	12	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106875687G>T	ENST00000286398.7	+	11	1633	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*	SMC2_ENST00000303219.8_Nonsense_Mutation_p.E449*|SMC2_ENST00000374793.3_Nonsense_Mutation_p.E449*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.E449*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	449					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAAGGATCAAGAAGCTCTAGA	0.353													False	0	False	9:106875687	0	T	106875687	G	T	106875687	4	4	88	1	0	0	0	0	0	1	0	0	14863	943	33	3	1383	3	SMC2	9	106875687	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14923	106875687	34337744	9875	17587											
SMC2	10592	broad.mit.edu	37	chr9	106896748	106896748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttttgcctggtgctaatgCtatgcttgcaccaccagagg	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106896748C>T	ENST00000286398.7	+	23	3449	c.3161C>T	c.(3160-3162)gCt>gTt	p.A1054V	SMC2_ENST00000303219.8_Missense_Mutation_p.A1054V|SMC2_ENST00000374793.3_Missense_Mutation_p.A1054V|SMC2_ENST00000374787.3_Missense_Mutation_p.A1054V	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1054					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGTGCTAATGCTATGCTTGCA	0.398													False	0	True	9:106896748	0	T	106896748	C	T	106896748	3	4	88	1	0	0	0	0	1	0	0	0	14863	797	28	2	3247	2	SMC2	9	106896748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21061	106896748	34316683	9876	17588											
OR13F1	138805	broad.mit.edu	37	chr9	107266825	107266825	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggagaaacactatttcattCtcagggtgcgccactcagat	10	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107266825C>A	ENST00000334726.2	+	1	371	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	94			F -> S (in dbSNP:rs7018553).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTATTTCATTCTCAGGGTGCG	0.517													False	0	False	9:107266825	0	A	107266825	C	A	107266825	3	1	88	1	0	0	0	0	1	0	0	0	11009	912	32	3	284	3	OR13F1	9	107266825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	370077	107266825	33946606	9877	17589											
OR13C4	138804	broad.mit.edu	37	chr9	107288998	107288998	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcccacagaaaggccatcGcatggcaagtgatgtttgca	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107288998G>A	ENST00000277216.3	-	1	492	c.493C>T	c.(493-495)Cga>Tga	p.R165*		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AAAGGCCATCGCATGGCAAGT	0.383													False	0	False	9:107288998	0	A	107288998	G	A	107288998	4	1	88	1	0	0	0	0	0	1	0	0	11004	1095	38	1	465	1	OR13C4	9	107288998	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22173	107288998	33924433	9878	17590											
OR13C8	138802	broad.mit.edu	37	chr9	107332160	107332160	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggaaaacataaggccTtctccacctgctcagcccac	7	15	2	1	rs150811269	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107332160T>G	ENST00000335040.1	+	1	712	c.712T>G	c.(712-714)Ttc>Gtc	p.F238V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ACATAAGGCCTTCTCCACCTG	0.413													False	0	False	9:107332160	0	G	107332160	T	G	107332160	3	3	88	1	0	0	0	0	1	0	0	0	11006	1609	56	4	714	4	OR13C8	9	107332160	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43162	107332160	33881271	9879	17591											
OR13C5	138799	broad.mit.edu	37	chr9	107360921	107360921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagacttgggcttcatgtaCatgaggaagatggtcccaca	12	8	1	3	rs76010537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107360921C>T	ENST00000374779.2	-	1	867	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	258			M -> T (in dbSNP:rs1851724).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCTTCATGTACATGAGGAAGA	0.443													False	0	False	9:107360921	0	T	107360921	C	T	107360921	3	4	88	1	0	0	0	0	1	0	0	0	11005	478	17	2	184	2	OR13C5	9	107360921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28761	107360921	33852510	9880	17592											
OR13C5	138799	broad.mit.edu	37	chr9	107361050	107361051	+	Frame_Shift_Ins	INS	-	-	CTTAATTCAG													tgattaacgtgtaagagacaINSataattaataacaaaggtgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107361050_107361051insCTTAATTCAG	ENST00000374779.2	-	1	737_738	c.644_645insCTGAATTAAG	c.(643-645)attfs	p.-215fs		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TGTAAGAGACAATAATTAATAA	0.436													False	0	True	9:107361050	0	CTTAATTCAG	107361051	-	CTTAATTCAG	107361050	7	5	88	1	0	1	1	0	0	0	0	0	11005	126	5	0	313	0	OR13C5	9	107361050	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	129	107361050	33852381	9881	17593											
OR13C9	286362	broad.mit.edu	37	chr9	107379810	107379810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaggagtgaatcttgaGgatgctggaaatgattaatg	13	4	2	4	rs76552310		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107379810G>T	ENST00000259362.1	-	1	675	c.676C>A	c.(676-678)Ctc>Atc	p.L226I		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGAATCTTGAGGATGCTGGAA	0.438													False	0	False	9:107379810	0	T	107379810	G	T	107379810	3	4	88	1	0	0	0	0	1	0	0	0	11007	1000	35	3	283	3	OR13C9	9	107379810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18760	107379810	33833621	9882	17594											
OR13C9	286362	broad.mit.edu	37	chr9	107379988	107379988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattcttcctgcagaaaggCaattgtactacaaatgtagt	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107379988C>T	ENST00000259362.1	-	1	497	c.498G>A	c.(496-498)ttG>ttA	p.L166L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGCAGAAAGGCAATTGTACTA	0.443													False	0	False	9:107379988	0	T	107379988	C	T	107379988	2	4	88	1	0	0	0	0	0	0	0	1	11007	709	25	2		2	OR13C9	9	107379988	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178	107379988	33833443	9883	17595											
NIPSNAP3B	55335	broad.mit.edu	37	chr9	107528697	107528697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaaccttcaaatatgaatgCgttcatggaaaatcttaaga	6	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107528697C>T	ENST00000374762.3	+	2	223	c.152C>T	c.(151-153)gCg>gTg	p.A51V	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	51										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						AATATGAATGCGTTCATGGAA	0.388													False	0	False	9:107528697	0	T	107528697	C	T	107528697	3	4	88	1	0	0	0	0	1	0	0	0	10499	768	27	1	158	1	NIPSNAP3B	9	107528697	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148709	107528697	33684734	9884	17596											
ABCA1	19	broad.mit.edu	37	chr9	107546610	107546610	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gattcttcatacatagctttCtttcactttctcatcctgta	3	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107546610C>A	ENST00000374736.3	-	50	7166	c.6772G>T	c.(6772-6774)Gaa>Taa	p.E2258*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2258					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACATAGCTTTCTTTCACTTTC	0.413													False	0	True	9:107546610	0	A	107546610	C	A	107546610	4	1	88	1	0	0	0	0	0	1	0	0	28	922	32	3	17	3	ABCA1	9	107546610	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17913	107546610	33666821	9885	17597											
ABCA1	19	broad.mit.edu	37	chr9	107546686	107546686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtttttgtgtaatgagagGtcttttaagtggtcatcatc	11	4	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107546686G>A	ENST00000374736.3	-	50	7090	c.6696C>T	c.(6694-6696)gaC>gaT	p.D2232D		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2232					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTAATGAGAGGTCTTTTAAGT	0.373													False	0	False	9:107546686	0	A	107546686	G	A	107546686	2	1	88	1	0	0	0	0	0	0	0	1	28	1252	44	2		2	ABCA1	9	107546686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	107546686	33666745	9886	17598											
ABCA1	19	broad.mit.edu	37	chr9	107547688	107547688	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttacttggtcaagtgTtgtctgagaaacagagtagt	11	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107547688T>C	ENST00000374736.3	-	49	7028	c.6634A>G	c.(6634-6636)Aca>Gca	p.T2212A		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2212					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGGTCAAGTGTTGTCTGAGAA	0.473													False	0	False	9:107547688	0	C	107547688	T	C	107547688	3	2	88	1	0	0	0	0	1	0	0	0	28	1725	60	4	159	4	ABCA1	9	107547688	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1002	107547688	33665743	9887	17599											
ABCA1	19	broad.mit.edu	37	chr9	107589230	107589230	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggccagaggtactcacaGcgaagatcttgagtgtgaag	13	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107589230G>A	ENST00000374736.3	-	16	2730	c.2336C>T	c.(2335-2337)gCt>gTt	p.A779V	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	779					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGTACTCACAGCGAAGATCTT	0.517													False	0	False	9:107589230	0	A	107589230	G	A	107589230	5	1	88	1	0	0	0	0	0	0	1	0	28	985	34	2	4589	2	ABCA1	9	107589230	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41542	107589230	33624201	9888	17600											
ABCA1	19	broad.mit.edu	37	chr9	107591298	107591298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtccaggcccatgatccGcatggtctctttcagccgtg	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107591298G>A	ENST00000374736.3	-	15	2408	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	672					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCCATGATCCGCATGGTCTCT	0.527													False	0	False	9:107591298	0	A	107591298	G	A	107591298	3	1	88	1	0	0	0	0	1	0	0	0	28	1086	38	1	4915	1	ABCA1	9	107591298	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2068	107591298	33622133	9889	17601											
SLC44A1	23446	broad.mit.edu	37	chr9	108110647	108110647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctttcaacaggttcagccCtatgtagctacaacctaaag	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108110647C>A	ENST00000374720.3	+	5	662	c.415C>A	c.(415-417)Cta>Ata	p.L139I	SLC44A1_ENST00000374723.1_Missense_Mutation_p.L139I|SLC44A1_ENST00000374724.1_Missense_Mutation_p.L139I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	139						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGGTTCAGCCCTATGTAGCTA	0.353													False	0	True	9:108110647	0	A	108110647	C	A	108110647	3	1	88	1	0	0	0	0	1	0	0	0	14715	680	24	3	433	3	SLC44A1	9	108110647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	519349	108110647	33102784	9890	17602											
SLC44A1	23446	broad.mit.edu	37	chr9	108136980	108136980	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctttgcgagtggctaccatCaacacagtaggagattttat	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108136980C>T	ENST00000374720.3	+	13	1843	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	SLC44A1_ENST00000343170.7_Silent_p.I324I|SLC44A1_ENST00000374723.1_Silent_p.I532I|SLC44A1_ENST00000374724.1_Silent_p.I532I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	532						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGGCTACCATCAACACAGTAG	0.388													False	0	False	9:108136980	0	T	108136980	C	T	108136980	2	4	88	1	0	0	0	0	0	0	0	1	14715	816	29	2		2	SLC44A1	9	108136980	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26333	108136980	33076451	9891	17603											
FKTN	2218	broad.mit.edu	37	chr9	108366669	108366669	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctttcatgagaggagtggCaactacctctggcacggcca	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108366669C>T	ENST00000223528.2	+	5	667	c.543C>T	c.(541-543)ggC>ggT	p.G181G	FKTN_ENST00000540160.1_Silent_p.G181G|FKTN_ENST00000448551.2_Silent_p.G181G|FKTN_ENST00000602661.1_Silent_p.G181G|FKTN_ENST00000357998.5_Silent_p.G181G	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	181					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AGAGGAGTGGCAACTACCTCT	0.473													False	0	False	9:108366669	0	T	108366669	C	T	108366669	2	4	88	1	0	0	0	0	0	0	0	1	5959	697	25	2		2	FKTN	9	108366669	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229689	108366669	32846762	9892	17604											
TAL2	6887	broad.mit.edu	37	chr9	108424910	108424910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagcaaaaatgaaacgcttCgcctggcaatgaggtatatc	10	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108424910C>T	ENST00000334077.3	+	1	173	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	45	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										TGAAACGCTTCGCCTGGCAAT	0.537			T	TRB@	T-ALL								False	0	False	9:108424910	0	T	108424910	C	T	108424910	3	4	88	1	0	0	0	0	1	0	0	0	15624	884	31	1	135	1	TAL2	9	108424910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58241	108424910	32788521	9893	17605											
ZNF462	58499	broad.mit.edu	37	chr9	109686536	109686536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatgcaagttctgtgtaCgctacttcaggtcaaaaaac	7	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109686536C>T	ENST00000277225.5	+	3	632	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	ZNF462_ENST00000457913.1_Missense_Mutation_p.R115C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	115					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R115S(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTTCTGTGTACGCTACTTCAG	0.473													False	0	False	9:109686536	0	T	109686536	C	T	109686536	3	4	88	1	0	0	0	0	1	0	0	0	18009	536	19	1	349	1	ZNF462	9	109686536	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1261626	109686536	31526895	9894	17606											
ZNF462	58499	broad.mit.edu	37	chr9	109689396	109689396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taggatccagaaaactatgcGaatggtgtctgtggacaggg	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109689396G>A	ENST00000277225.5	+	3	3492	c.3203G>A	c.(3202-3204)cGa>cAa	p.R1068Q	ZNF462_ENST00000457913.1_Missense_Mutation_p.R1068Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1068					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAAACTATGCGAATGGTGTCT	0.483													False	0	False	9:109689396	0	A	109689396	G	A	109689396	3	1	88	1	0	0	0	0	1	0	0	0	18009	1058	37	1	3209	1	ZNF462	9	109689396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2860	109689396	31524035	9895	17607											
ZNF462	58499	broad.mit.edu	37	chr9	109689673	109689673	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgcaatgatgagaggggtCgaagggccccaaggctcccc	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109689673C>T	ENST00000277225.5	+	3	3769	c.3480C>T	c.(3478-3480)gtC>gtT	p.V1160V	ZNF462_ENST00000441147.2_Silent_p.V5V|ZNF462_ENST00000457913.1_Silent_p.V1160V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1160					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGAGAGGGGTCGAAGGGCCCC	0.552													False	0	False	9:109689673	0	T	109689673	C	T	109689673	2	4	88	1	0	0	0	0	0	0	0	1	18009	871	31	1		1	ZNF462	9	109689673	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	277	109689673	31523758	9896	17608											
ZNF462	58499	broad.mit.edu	37	chr9	109690160	109690160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgcatctactcccatacgGagcccaacggtttgctcctg	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109690160G>A	ENST00000277225.5	+	3	4256	c.3967G>A	c.(3967-3969)Gag>Aag	p.E1323K	ZNF462_ENST00000441147.2_Missense_Mutation_p.E168K|ZNF462_ENST00000457913.1_Missense_Mutation_p.E1323K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1323					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTCCCATACGGAGCCCAACGG	0.532													False	0	False	9:109690160	0	A	109690160	G	A	109690160	3	1	88	1	0	0	0	0	1	0	0	0	18009	1175	41	2	3973	2	ZNF462	9	109690160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	487	109690160	31523271	9897	17609											
ZNF462	58499	broad.mit.edu	37	chr9	109694764	109694764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagccacctggccctggCcatgtttacccgcgaggaca	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109694764C>T	ENST00000277225.5	+	5	6339	c.6050C>T	c.(6049-6051)gCc>gTc	p.A2017V	ZNF462_ENST00000441147.2_Missense_Mutation_p.A923V|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Missense_Mutation_p.A2077V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2017					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTGGCCCTGGCCATGTTTACC	0.547													False	0	False	9:109694764	0	T	109694764	C	T	109694764	3	4	88	1	0	0	0	0	1	0	0	0	18009	739	26	2	6064	2	ZNF462	9	109694764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4604	109694764	31518667	9898	17610											
ZNF462	58499	broad.mit.edu	37	chr9	109734376	109734376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacaacagccgtgttagccCtgtgcctctttctggggctg	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109734376C>A	ENST00000277225.5	+	8	6807	c.6518C>A	c.(6517-6519)cCt>cAt	p.P2173H	ZNF462_ENST00000441147.2_Missense_Mutation_p.P1079H|ZNF462_ENST00000457913.1_Missense_Mutation_p.P2233H|ZNF462_ENST00000542028.1_Missense_Mutation_p.P130H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2173					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CGTGTTAGCCCTGTGCCTCTT	0.532													False	0	True	9:109734376	0	A	109734376	C	A	109734376	3	1	88	1	0	0	0	0	1	0	0	0	18009	681	24	3	6544	3	ZNF462	9	109734376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39612	109734376	31479055	9899	17611											
ZNF462	58499	broad.mit.edu	37	chr9	109746472	109746472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttgtttccacagaagagCgtgttgtccccattgaagtt	9	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109746472C>T	ENST00000277225.5	+	10	7127	c.6838C>T	c.(6838-6840)Cgt>Tgt	p.R2280C	ZNF462_ENST00000441147.2_Missense_Mutation_p.R1186C|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2340C|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Missense_Mutation_p.R237C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2280					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R2280C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACAGAAGAGCGTGTTGTCCC	0.418													False	0	False	9:109746472	0	T	109746472	C	T	109746472	3	4	88	1	0	0	0	0	1	0	0	0	18009	768	27	1	6872	1	ZNF462	9	109746472	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12096	109746472	31466959	9900	17612											
RAD23B	5887	broad.mit.edu	37	chr9	110084292	110084292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagatagagaaagtcaggCtgtggttgacccccctcaag	13	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110084292C>T	ENST00000358015.3	+	7	1061	c.710C>T	c.(709-711)gCt>gTt	p.A237V	RAD23B_ENST00000416373.2_Missense_Mutation_p.A165V	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	237					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAAGTCAGGCTGTGGTTGAC	0.433								Direct reversal of damage;Nucleotide excision repair (NER)					False	0	False	9:110084292	0	T	110084292	C	T	110084292	3	4	88	1	0	0	0	0	1	0	0	0	13062	797	28	2	736	2	RAD23B	9	110084292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	337820	110084292	31129139	9901	17613											
KLF4	9314	broad.mit.edu	37	chr9	110248208	110248208	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagtggtaaggtttctcacCtgtaaaggtaaaagaaaaaa	9	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110248208C>A	ENST00000374672.4	-	5	1738		c.e5-1			NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)						fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGTTTCTCACCTGTAAAGGTA	0.463													False	0	False	9:110248208	0	A	110248208	C	A	110248208	5	1	88	1	0	0	0	0	0	0	1	0	8398	695	24	3	179	3	KLF4	9	110248208	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163916	110248208	30965223	9902	17614											
KLF4	9314	broad.mit.edu	37	chr9	110249902	110249902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccaccaccaccgggtggCtgccgtcagggctgcctttg	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110249902C>T	ENST00000374672.4	-	3	1246	c.773G>A	c.(772-774)aGc>aAc	p.S258N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	258	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CACCGGGTGGCTGCCGTCAGG	0.687													False	0	False	9:110249902	0	T	110249902	C	T	110249902	3	4	88	1	0	0	0	0	1	0	0	0	8398	797	28	2	678	2	KLF4	9	110249902	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1694	110249902	30963529	9903	17615											
ACTL7B	10880	broad.mit.edu	37	chr9	111617062	111617062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaggccaggatggaaccGccggtccacacggaggtctt	16	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111617062G>A	ENST00000374667.3	-	1	2177	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	383						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.G383G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGATGGAACCGCCGGTCCACA	0.657													False	0	False	9:111617062	0	A	111617062	G	A	111617062	2	1	88	1	0	0	0	0	0	0	0	1	201	1074	38	1		1	ACTL7B	9	111617062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1367160	111617062	29596369	9904	17616											
ACTL7A	10881	broad.mit.edu	37	chr9	111625138	111625138	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccactgagcccacacaccaAcagagagaaatatgctgaaa	8	12	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111625138A>C	ENST00000333999.3	+	1	536	c.536A>C	c.(535-537)aAc>aCc	p.N179T		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	179						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCACACACCAACAGAGAGAAA	0.532													False	0	False	9:111625138	0	C	111625138	A	C	111625138	3	2	88	1	0	0	0	0	1	0	0	0	200	43	2	4	538	4	ACTL7A	9	111625138	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8076	111625138	29588293	9905	17617											
IKBKAP	8518	broad.mit.edu	37	chr9	111653624	111653624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcaacgggcaaacatgaGccccgctggctcatacatgt	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111653624G>A	ENST00000374647.5	-	28	3326	c.3019C>T	c.(3019-3021)Ctc>Ttc	p.L1007F	IKBKAP_ENST00000537196.1_Missense_Mutation_p.L658F	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1007					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCAAACATGAGCCCCGCTGGC	0.527													False	0	True	9:111653624	0	A	111653624	G	A	111653624	3	1	88	1	0	0	0	0	1	0	0	0	7660	971	34	2	1019	2	IKBKAP	9	111653624	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28486	111653624	29559807	9906	17618											
IKBKAP	8518	broad.mit.edu	37	chr9	111685171	111685171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgatccatggaactgtGtctccttcctaccccatcca	5	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111685171G>A	ENST00000374647.5	-	6	810	c.503C>T	c.(502-504)aCa>aTa	p.T168I	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	168					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATGGAACTGTGTCTCCTTCCT	0.398													False	0	False	9:111685171	0	A	111685171	G	A	111685171	3	1	88	1	0	0	0	0	1	0	0	0	7660	1377	48	2	3623	2	IKBKAP	9	111685171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31547	111685171	29528260	9907	17619											
CTNNAL1	8727	broad.mit.edu	37	chr9	111706086	111706086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagcataagcttgtcaTcgtctttcagctgaaatgta	10	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111706086T>C	ENST00000374595.4	-	17	2031	c.1952A>G	c.(1951-1953)gAt>gGt	p.D651G	CTNNAL1_ENST00000374594.1_Missense_Mutation_p.D52G|FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D567G|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.D651G			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	651					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AAGCTTGTCATCGTCTTTCAG	0.353													False	0	False	9:111706086	0	C	111706086	T	C	111706086	3	2	88	1	0	0	0	0	1	0	0	0	4040	1435	50	4	264	4	CTNNAL1	9	111706086	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20915	111706086	29507345	9908	17620											
CTNNAL1	8727	broad.mit.edu	37	chr9	111761490	111761490	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaattgcttgcagagttTtatcagactttttggtatta	9	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111761490T>G	ENST00000374595.4	-	2	267	c.188A>C	c.(187-189)aAa>aCa	p.K63T	CTNNAL1_ENST00000374593.4_Missense_Mutation_p.K63T|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.K63T|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.K63T			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	63					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTGCAGAGTTTTATCAGACTT	0.333													False	0	True	9:111761490	0	G	111761490	T	G	111761490	3	3	88	1	0	0	0	0	1	0	0	0	4040	1841	64	4	2088	4	CTNNAL1	9	111761490	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55404	111761490	29451941	9909	17621											
EPB41L4B	54566	broad.mit.edu	37	chr9	111936884	111936884	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catcttctctctctccagttCctgccggagtgtctctgcac	7	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111936884C>A	ENST00000374566.3	-	26	3170	c.2653G>T	c.(2653-2655)Gaa>Taa	p.E885*		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	885						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCCAGTTCCTGCCGGAGT	0.448													False	0	False	9:111936884	0	A	111936884	C	A	111936884	4	1	88	1	0	0	0	0	0	1	0	0	5188	864	30	3	53	3	EPB41L4B	9	111936884	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175394	111936884	29276547	9910	17622											
EPB41L4B	54566	broad.mit.edu	37	chr9	111956567	111956567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgacattctggaccttgGgggacggcagcggcacggag	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111956567G>T	ENST00000374566.3	-	21	2673	c.2156C>A	c.(2155-2157)cCc>cAc	p.P719H		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	719						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGACCTTGGGGGACGGCAG	0.632													False	0	True	9:111956567	0	T	111956567	G	T	111956567	3	4	88	1	0	0	0	0	1	0	0	0	5188	1232	43	3	570	3	EPB41L4B	9	111956567	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19683	111956567	29256864	9911	17623											
EPB41L4B	54566	broad.mit.edu	37	chr9	112017853	112017853	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatttgctgtttcctggCgtccgcagtcggaagaatgc	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112017853C>T	ENST00000374566.3	-	11	1624	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	EPB41L4B_ENST00000374557.4_Silent_p.T369T	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	369	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTTTCCTGGCGTCCGCAGTC	0.522													False	0	False	9:112017853	0	T	112017853	C	T	112017853	2	4	88	1	0	0	0	0	0	0	0	1	5188	755	27	1		1	EPB41L4B	9	112017853	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61286	112017853	29195578	9912	17624											
PTPN3	0	broad.mit.edu	37	chr9	112166806	112166806	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctccaaagtgtccccaccCtccggacacatggggaaaat	8	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112166806C>A	ENST00000412145.1	-	14	4035	c.1482G>T	c.(1480-1482)gaG>gaT	p.E494D	PTPN3_ENST00000394827.3_Missense_Mutation_p.E93D|PTPN3_ENST00000374541.2_Missense_Mutation_p.E625D|PTPN3_ENST00000262539.3_Missense_Mutation_p.E471D|PTPN3_ENST00000446349.1_Missense_Mutation_p.E449D	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	625					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGTCCCCACCCTCCGGACACA	0.532													False	0	True	9:112166806	0	A	112166806	C	A	112166806	3	1	88	1	0	0	0	0	1	0	0	0	12868	680	24	3	898	3	PTPN3	9	112166806	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148953	112166806	29046625	9913	17625											
PTPN3	0	broad.mit.edu	37	chr9	112216845	112216845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgaaaatgcagggtacagGggaaacctcctacaacattt	9	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112216845G>A	ENST00000374541.2	-	5	403	c.299C>T	c.(298-300)cCc>cTc	p.P100L	PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	100	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGGGTACAGGGGAAACCTCC	0.333													False	0	True	9:112216845	0	A	112216845	G	A	112216845	3	1	88	1	0	0	0	0	1	0	0	0	12868	1232	43	2	2530	2	PTPN3	9	112216845	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50039	112216845	28996586	9914	17626											
PALM2	114299	broad.mit.edu	37	chr9	112705591	112705591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttgtgtccgggaggccGgtctcagacaccacagagcc	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112705591G>A	ENST00000448454.2	+	8	1128	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	PALM2_ENST00000374531.2_Silent_p.P342P|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000483909.1_Silent_p.P340P|PALM2_ENST00000314527.4_Silent_p.P374P|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CCGGGAGGCCGGTCTCAGACA	0.547													False	0	False	9:112705591	0	A	112705591	G	A	112705591	2	1	88	1	0	0	0	0	0	0	0	1	11477	1103	39	1		1	PALM2	9	112705591	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	488746	112705591	28507840	9915	17627											
PALM2-AKAP2	0	broad.mit.edu	37	chr9	112898709	112898709	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgctagaggccaactgCtgtgattctgctgtggatgg	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112898709C>A	ENST00000374530.3	+	8	1065	c.885C>A	c.(883-885)tgC>tgA	p.C295*	AKAP2_ENST00000374525.1_Nonsense_Mutation_p.C153*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.C295*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.C153*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.C295*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.C295*|AKAP2_ENST00000259318.7_Nonsense_Mutation_p.C64*	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		64							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGGCCAACTGCTGTGATTCTG	0.562													False	0	False	9:112898709	0	A	112898709	C	A	112898709	4	1	88	1	0	0	0	0	0	1	0	0	11478	805	28	3	915	3	PALM2-AKAP2	9	112898709	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193118	112898709	28314722	9916	17628											
PALM2-AKAP2	0	broad.mit.edu	37	chr9	112899046	112899046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccacactgaaaaaggagGccaagtttgagctgcgtgcc	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899046G>A	ENST00000374530.3	+	8	1402	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	AKAP2_ENST00000374525.1_Missense_Mutation_p.A266T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A408T|AKAP2_ENST00000434623.2_Missense_Mutation_p.A266T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A408T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A408T|AKAP2_ENST00000259318.7_Missense_Mutation_p.A177T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		177							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAAAAAGGAGGCCAAGTTTGA	0.532													False	0	False	9:112899046	0	A	112899046	G	A	112899046	3	1	88	1	0	0	0	0	1	0	0	0	11478	1203	42	2	1252	2	PALM2-AKAP2	9	112899046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337	112899046	28314385	9917	17629											
PALM2-AKAP2	0	broad.mit.edu	37	chr9	112899457	112899457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatgattgacaaagcaaagGaggacattgtcacagagcag	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899457G>A	ENST00000374530.3	+	8	1813	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	AKAP2_ENST00000374525.1_Missense_Mutation_p.E403K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E545K|AKAP2_ENST00000434623.2_Missense_Mutation_p.E403K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E545K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E545K|AKAP2_ENST00000259318.7_Missense_Mutation_p.E314K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		314							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CAAAGCAAAGGAGGACATTGT	0.542													False	0	False	9:112899457	0	A	112899457	G	A	112899457	3	1	88	1	0	0	0	0	1	0	0	0	11478	1175	41	2	1663	2	PALM2-AKAP2	9	112899457	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	411	112899457	28313974	9918	17630											
PALM2-AKAP2	0	broad.mit.edu	37	chr9	112899987	112899987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataccacagtcctggagacCctatccaatgatttcagcat	7	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899987C>T	ENST00000374530.3	+	8	2343	c.2163C>T	c.(2161-2163)acC>acT	p.T721T	AKAP2_ENST00000374525.1_Silent_p.T579T|PALM2-AKAP2_ENST00000302798.7_Silent_p.T721T|AKAP2_ENST00000434623.2_Silent_p.T579T|AKAP2_ENST00000510514.5_Silent_p.T721T|AKAP2_ENST00000555236.1_Silent_p.T721T|AKAP2_ENST00000259318.7_Silent_p.T490T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		490							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TCCTGGAGACCCTATCCAATG	0.493													False	0	True	9:112899987	0	T	112899987	C	T	112899987	2	4	88	1	0	0	0	0	0	0	0	1	11478	610	22	2		2	PALM2-AKAP2	9	112899987	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	530	112899987	28313444	9919	17631											
PALM2-AKAP2	0	broad.mit.edu	37	chr9	112900226	112900226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaccccttggagtatcaggCtggcctcctggtgcagaatg	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112900226C>A	ENST00000374530.3	+	8	2582	c.2402C>A	c.(2401-2403)gCt>gAt	p.A801D	AKAP2_ENST00000374525.1_Missense_Mutation_p.A659D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A801D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A659D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A801D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A801D|AKAP2_ENST00000259318.7_Missense_Mutation_p.A570D	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		570							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAGTATCAGGCTGGCCTCCTG	0.542													False	0	False	9:112900226	0	A	112900226	C	A	112900226	3	1	88	1	0	0	0	0	1	0	0	0	11478	797	28	3	2432	3	PALM2-AKAP2	9	112900226	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	112900226	28313205	9920	17632											
PALM2-AKAP2	0	broad.mit.edu	37	chr9	112900703	112900703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaagagatccgagcagCtcaggaaagggaagaggagc	17	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112900703C>A	ENST00000374530.3	+	8	3059	c.2879C>A	c.(2878-2880)gCt>gAt	p.A960D	AKAP2_ENST00000374525.1_Missense_Mutation_p.A818D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A960D|AKAP2_ENST00000434623.2_Missense_Mutation_p.A818D|AKAP2_ENST00000510514.5_Missense_Mutation_p.A960D|AKAP2_ENST00000555236.1_Missense_Mutation_p.A960D|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000259318.7_Missense_Mutation_p.A729D	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		729							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATCCGAGCAGCTCAGGAAAGG	0.542													False	0	False	9:112900703	0	A	112900703	C	A	112900703	3	1	88	1	0	0	0	0	1	0	0	0	11478	797	28	3	2909	3	PALM2-AKAP2	9	112900703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	477	112900703	28312728	9921	17633											
C9orf152	401546	broad.mit.edu	37	chr9	112963456	112963456	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccggttccttgctgagtcatCtgattggtttcaaacaagtg	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112963456C>T	ENST00000400613.4	-	2	1101	c.492G>A	c.(490-492)caG>caA	p.Q164Q	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	164										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCTGAGTCATCTGATTGGTTT	0.507													False	0	False	9:112963456	0	T	112963456	C	T	112963456	2	4	88	1	0	0	0	0	0	0	0	1	2483	912	32	2		2	C9orf152	9	112963456	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62753	112963456	28249975	9922	17634											
TXN	7295	broad.mit.edu	37	chr9	113006460	113006460	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactaattcattaatggtggCttcaagcttttccttattgg	8	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113006460C>A	ENST00000374517.5	-	5	499	c.295G>T	c.(295-297)Gcc>Tcc	p.A99S	TXN_ENST00000374515.5_Missense_Mutation_p.A79S|TXN_ENST00000487892.1_5'UTR	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	99	Thioredoxin.				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		TTAATGGTGGCTTCAAGCTTT	0.289													False	0	False	9:113006460	0	A	113006460	C	A	113006460	3	1	88	1	0	0	0	0	1	0	0	0	16874	797	28	3	26	3	TXN	9	113006460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43004	113006460	28206971	9923	17635											
SVEP1	79987	broad.mit.edu	37	chr9	113166795	113166795	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctttctgacaggtgaatgTatctgtatctgtatccatcg	8	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113166795T>C	ENST00000401783.2	-	39	9814	c.9478A>G	c.(9478-9480)Aca>Gca	p.T3160A	SVEP1_ENST00000374469.1_Missense_Mutation_p.T3137A|SVEP1_ENST00000297826.5_Missense_Mutation_p.T1086A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3160	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGGTGAATGTATCTGTATCT	0.393													False	0	True	9:113166795	0	C	113166795	T	C	113166795	3	2	88	1	0	0	0	0	1	0	0	0	15502	1638	57	4	1277	4	SVEP1	9	113166795	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	160335	113166795	28046636	9924	17636											
SVEP1	79987	broad.mit.edu	37	chr9	113170918	113170918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcggctctgggcacttgGcaggcatgcactttggattt	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113170918G>A	ENST00000401783.2	-	38	7298	c.6962C>T	c.(6961-6963)gCc>gTc	p.A2321V	SVEP1_ENST00000374469.1_Missense_Mutation_p.A2298V|SVEP1_ENST00000297826.5_Missense_Mutation_p.A247V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2321	Sushi 16.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGGCACTTGGCAGGCATGCA	0.453													False	0	True	9:113170918	0	A	113170918	G	A	113170918	3	1	88	1	0	0	0	0	1	0	0	0	15502	1203	42	2	3797	2	SVEP1	9	113170918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4123	113170918	28042513	9925	17637											
SVEP1	79987	broad.mit.edu	37	chr9	113173864	113173864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagagcagtagtagaatgCaatgtctccaaagagccgat	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113173864C>T	ENST00000401783.2	-	37	6463	c.6127G>A	c.(6127-6129)Gca>Aca	p.A2043T	SVEP1_ENST00000374469.1_Missense_Mutation_p.A2020T|SVEP1_ENST00000297826.5_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2043	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TAGTAGAATGCAATGTCTCCA	0.552													False	0	False	9:113173864	0	T	113173864	C	T	113173864	3	4	88	1	0	0	0	0	1	0	0	0	15502	710	25	2	4636	2	SVEP1	9	113173864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2946	113173864	28039567	9926	17638											
SVEP1	79987	broad.mit.edu	37	chr9	113194818	113194818	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtcacccaatagatagtaGccattgttgcactggtaggt	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113194818G>T	ENST00000401783.2	-	31	5493	c.5157C>A	c.(5155-5157)ggC>ggA	p.G1719G	SVEP1_ENST00000374469.1_Silent_p.G1696G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1719	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATAGATAGTAGCCATTGTTGC	0.493													False	0	False	9:113194818	0	T	113194818	G	T	113194818	2	4	88	1	0	0	0	0	0	0	0	1	15502	958	34	3		3	SVEP1	9	113194818	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20954	113194818	28018613	9927	17639											
SVEP1	79987	broad.mit.edu	37	chr9	113276288	113276288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacacagtcttcaggggatgTgcttccaggtggagaggtgt	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113276288T>C	ENST00000401783.2	-	4	1399	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	SVEP1_ENST00000374469.1_Missense_Mutation_p.T332A|SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A|SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	355					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCAGGGGATGTGCTTCCAGGT	0.507													False	0	False	9:113276288	0	C	113276288	T	C	113276288	3	2	88	1	0	0	0	0	1	0	0	0	15502	1696	59	4	9832	4	SVEP1	9	113276288	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81470	113276288	27937143	9928	17640											
SVEP1	79987	broad.mit.edu	37	chr9	113312282	113312282	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctccactcctgaatctcGcagtgacgctgcaattggtc	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113312282G>A	ENST00000401783.2	-	2	970	c.634C>T	c.(634-636)Cga>Tga	p.R212*	SVEP1_ENST00000374469.1_Nonsense_Mutation_p.R189*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.R189*|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.R212*|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	212	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGAATCTCGCAGTGACGCT	0.453													False	0	False	9:113312282	0	A	113312282	G	A	113312282	4	1	88	1	0	0	0	0	0	1	0	0	15502	1095	38	1	10269	1	SVEP1	9	113312282	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35994	113312282	27901149	9929	17641											
SVEP1	79987	broad.mit.edu	37	chr9	113312321	113312321	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctagggtctcccccattggAatatccatcagtgatgagaa	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113312321A>G	ENST00000401783.2	-	2	931	c.595T>C	c.(595-597)Tcc>Ccc	p.S199P	SVEP1_ENST00000374469.1_Missense_Mutation_p.S176P|SVEP1_ENST00000374461.1_Missense_Mutation_p.S176P|SVEP1_ENST00000302728.8_Missense_Mutation_p.S199P|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	199	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCCCATTGGAATATCCATCA	0.418													False	0	False	9:113312321	0	G	113312321	A	G	113312321	3	3	88	1	0	0	0	0	1	0	0	0	15502	246	9	4	10308	4	SVEP1	9	113312321	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39	113312321	27901110	9930	17642											
MUSK	4593	broad.mit.edu	37	chr9	113509922	113509922	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctttactctgtcaggTttcttctgggtccattcaag	7	10	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113509922T>G	ENST00000416899.2	+	7	881	c.755T>G	c.(754-756)gTt>gGt	p.V252G	MUSK_ENST00000189978.5_Splice_Site_p.V252G|MUSK_ENST00000374448.4_Splice_Site_p.V252G			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	252	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTCTGTCAGGTTTCTTCTGGG	0.403													False	0	True	9:113509922	0	G	113509922	T	G	113509922	5	3	88	1	0	0	0	0	0	0	1	0	10056	1739	60	4	815	4	MUSK	9	113509922	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	197601	113509922	27703509	9931	17643											
MUSK	4593	broad.mit.edu	37	chr9	113538230	113538230	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccccacggcctgtgccagActgccacatctaggtaacac	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113538230A>C	ENST00000416899.2	+	9	1473	c.1347A>C	c.(1345-1347)agA>agC	p.R449S	MUSK_ENST00000189978.5_Missense_Mutation_p.R449S|MUSK_ENST00000374448.4_Missense_Mutation_p.R449S|MUSK_ENST00000374438.1_Missense_Mutation_p.T41P			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	449	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCTGTGCCAGACTGCCACATC	0.468													False	0	False	9:113538230	0	C	113538230	A	C	113538230	3	2	88	1	0	0	0	0	1	0	0	0	10056	272	10	4	1417	4	MUSK	9	113538230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28308	113538230	27675201	9932	17644											
MUSK	4593	broad.mit.edu	37	chr9	113547872	113547872	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actagatagacttcatcccaAccccatgtaccagaggatgc	7	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113547872A>G	ENST00000416899.2	+	11	1754	c.1628A>G	c.(1627-1629)aAc>aGc	p.N543S	MUSK_ENST00000189978.5_Missense_Mutation_p.N551S|MUSK_ENST00000374448.4_Missense_Mutation_p.N551S|MUSK_ENST00000374438.1_Missense_Mutation_p.N67S			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	551					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTTCATCCCAACCCCATGTAC	0.498													False	0	True	9:113547872	0	G	113547872	A	G	113547872	3	3	88	1	0	0	0	0	1	0	0	0	10056	43	2	4	1734	4	MUSK	9	113547872	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9642	113547872	27665559	9933	17645											
LPAR1	1902	broad.mit.edu	37	chr9	113704156	113704156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctaacagtcagtctccgaGtattgggtcctgtgttgaac	11	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704156G>A	ENST00000374431.3	-	4	721	c.338C>T	c.(337-339)aCt>aTt	p.T113I	LPAR1_ENST00000374430.2_Missense_Mutation_p.T113I|LPAR1_ENST00000538760.1_Missense_Mutation_p.T114I|LPAR1_ENST00000541779.1_Missense_Mutation_p.T114I|LPAR1_ENST00000358883.4_Missense_Mutation_p.T113I	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	113					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAGTCTCCGAGTATTGGGTCC	0.488													False	0	False	9:113704156	0	A	113704156	G	A	113704156	3	1	88	1	0	0	0	0	1	0	0	0	8966	1029	36	2	764	2	LPAR1	9	113704156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156284	113704156	27509275	9934	17646											
LPAR1	1902	broad.mit.edu	37	chr9	113704229	113704229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcagcagccagattagCcattaggtaataaataggaa	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704229C>T	ENST00000374431.3	-	4	648	c.265G>A	c.(265-267)Gct>Act	p.A89T	LPAR1_ENST00000374430.2_Missense_Mutation_p.A89T|LPAR1_ENST00000538760.1_Missense_Mutation_p.A90T|LPAR1_ENST00000541779.1_Missense_Mutation_p.A90T|LPAR1_ENST00000358883.4_Missense_Mutation_p.A89T	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	89					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCCAGATTAGCCATTAGGTAA	0.453													False	0	False	9:113704229	0	T	113704229	C	T	113704229	3	4	88	1	0	0	0	0	1	0	0	0	8966	739	26	2	837	2	LPAR1	9	113704229	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	113704229	27509202	9935	17647											
LPAR1	1902	broad.mit.edu	37	chr9	113704334	113704334	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaacagtgattccaagtcCcatcaccagcttgctgactg	7	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704334C>A	ENST00000374431.3	-	4	543	c.160G>T	c.(160-162)Gga>Tga	p.G54*	LPAR1_ENST00000374430.2_Nonsense_Mutation_p.G54*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.G55*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.G55*|LPAR1_ENST00000358883.4_Nonsense_Mutation_p.G54*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	54					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATTCCAAGTCCCATCACCAGC	0.443													False	0	True	9:113704334	0	A	113704334	C	A	113704334	4	1	88	1	0	0	0	0	0	1	0	0	8966	632	22	3	942	3	LPAR1	9	113704334	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105	113704334	27509097	9936	17648											
OR2K2	26248	broad.mit.edu	37	chr9	114089992	114089992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccacagtcaaatgggcaCcacaggtagaaaaagccttg	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114089992C>A	ENST00000374428.1	-	1	808	c.809G>T	c.(808-810)gGt>gTt	p.G270V	OR2K2_ENST00000302681.1_Missense_Mutation_p.G241V			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CAAATGGGCACCACAGGTAGA	0.408													False	0	False	9:114089992	0	A	114089992	C	A	114089992	3	1	88	1	0	0	0	0	1	0	0	0	11073	507	18	3	231	3	OR2K2	9	114089992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385658	114089992	27123439	9937	17649											
OR2K2	26248	broad.mit.edu	37	chr9	114090685	114090685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccctccaagaaaaaaatgCtccaaatggtgaagttttct	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114090685C>T	ENST00000374428.1	-	1	115	c.116G>A	c.(115-117)aGc>aAc	p.S39N	OR2K2_ENST00000302681.1_Missense_Mutation_p.S10N			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GAAAAAAATGCTCCAAATGGT	0.388													False	0	False	9:114090685	0	T	114090685	C	T	114090685	3	4	88	1	0	0	0	0	1	0	0	0	11073	797	28	2	924	2	OR2K2	9	114090685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	693	114090685	27122746	9938	17650											
KIAA0368	23392	broad.mit.edu	37	chr9	114134091	114134091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaactcctgcaggtataatCgaatgccaccaaaggatcct	7	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114134091C>T	ENST00000259335.4	-	44	5080	c.5081G>A	c.(5080-5082)cGa>cAa	p.R1694Q	KIAA0368_ENST00000338205.5_Missense_Mutation_p.R1516Q|KIAA0368_ENST00000374378.3_5'UTR	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CAGGTATAATCGAATGCCACC	0.383													False	0	False	9:114134091	0	T	114134091	C	T	114134091	3	4	88	1	0	0	0	0	1	0	0	0	8221	884	31	1	1004	1	KIAA0368	9	114134091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43406	114134091	27079340	9939	17651											
KIAA0368	23392	broad.mit.edu	37	chr9	114140876	114140876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccttttcttgctctgtcGcccggaggctcaaataattg	8	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114140876G>A	ENST00000259335.4	-	37	4471	c.4472C>T	c.(4471-4473)gCg>gTg	p.A1491V	KIAA0368_ENST00000338205.5_Missense_Mutation_p.A1313V|KIAA0368_ENST00000374378.3_5'UTR	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTGCTCTGTCGCCCGGAGGCT	0.468													False	0	True	9:114140876	0	A	114140876	G	A	114140876	3	1	88	1	0	0	0	0	1	0	0	0	8221	1087	38	1	1641	1	KIAA0368	9	114140876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6785	114140876	27072555	9940	17652											
KIAA0368	23392	broad.mit.edu	37	chr9	114178627	114178627	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actggagttttcattcgatgAgaagcctaagtttaaaaagt	9	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114178627A>G	ENST00000259335.4	-	19	2222	c.2223T>C	c.(2221-2223)tcT>tcC	p.S741S	KIAA0368_ENST00000338205.5_Silent_p.S563S	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCATTCGATGAGAAGCCTAAG	0.393													False	0	False	9:114178627	0	G	114178627	A	G	114178627	2	3	88	1	0	0	0	0	0	0	0	1	8221	291	11	4		4	KIAA0368	9	114178627	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37751	114178627	27034804	9941	17653											
C9orf84	158401	broad.mit.edu	37	chr9	114454094	114454094	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaataaattacctttctgaGagtacaatttgttacatgca	6	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114454094G>T	ENST00000394779.3	-	23	4098	c.3854C>A	c.(3853-3855)tCt>tAt	p.S1285Y	C9orf84_ENST00000394777.4_Missense_Mutation_p.S1250Y|C9orf84_ENST00000374287.3_Missense_Mutation_p.S1324Y|C9orf84_ENST00000318737.4_Missense_Mutation_p.S1324Y	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1324										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTTTCTGAGAGTACAATTT	0.373													False	0	False	9:114454094	0	T	114454094	G	T	114454094	3	4	88	1	0	0	0	0	1	0	0	0	2520	942	33	3	371	3	C9orf84	9	114454094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275467	114454094	26759337	9942	17654											
C9orf84	158401	broad.mit.edu	37	chr9	114454384	114454384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaaagaaaagacatctgaCtctgaatcactgtggtttag	8	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114454384C>A	ENST00000394779.3	-	23	3808	c.3564G>T	c.(3562-3564)gaG>gaT	p.E1188D	C9orf84_ENST00000394777.4_Missense_Mutation_p.E1153D|C9orf84_ENST00000374287.3_Missense_Mutation_p.E1227D|C9orf84_ENST00000318737.4_Missense_Mutation_p.E1227D	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1227										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGACATCTGACTCTGAATCAC	0.373													False	0	False	9:114454384	0	A	114454384	C	A	114454384	3	1	88	1	0	0	0	0	1	0	0	0	2520	564	20	3	661	3	C9orf84	9	114454384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	290	114454384	26759047	9943	17655											
C9orf84	158401	broad.mit.edu	37	chr9	114500748	114500748	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctttaacagaaaatAtctttttcaaatctgtaact	2	7	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114500748A>C	ENST00000394779.3	-	8	1164	c.920T>G	c.(919-921)aTa>aGa	p.I307R	C9orf84_ENST00000374283.5_Missense_Mutation_p.I410R|C9orf84_ENST00000394777.4_Missense_Mutation_p.I307R|C9orf84_ENST00000374287.3_Missense_Mutation_p.I346R|C9orf84_ENST00000318737.4_Missense_Mutation_p.I346R	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	346										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AACAGAAAATATCTTTTTCAA	0.333													False	0	False	9:114500748	0	C	114500748	A	C	114500748	3	2	88	1	0	0	0	0	1	0	0	0	2520	449	16	4	3365	4	C9orf84	9	114500748	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46364	114500748	26712683	9944	17656											
UGCG	7357	broad.mit.edu	37	chr9	114693625	114693625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaatttctcagtttcaatCcagaatgatcaggtaaatca	5	8	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114693625C>T	ENST00000374279.3	+	7	1262	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	271					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	CAGTTTCAATCCAGAATGATC	0.338													False	0	False	9:114693625	0	T	114693625	C	T	114693625	3	4	88	1	0	0	0	0	1	0	0	0	17023	855	30	2	838	2	UGCG	9	114693625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192877	114693625	26519806	9945	17657											
SUSD1	64420	broad.mit.edu	37	chr9	114825286	114825286	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcctctgtgcaccgtaAaaaattctacttccgggagg	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114825286A>C	ENST00000374270.3	-	13	1953	c.1781T>G	c.(1780-1782)tTt>tGt	p.F594C	SUSD1_ENST00000374263.3_Missense_Mutation_p.F594C|SUSD1_ENST00000374264.2_Missense_Mutation_p.F594C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	594						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTGCACCGTAAAAAATTCTAC	0.483													False	0	True	9:114825286	0	C	114825286	A	C	114825286	3	2	88	1	0	0	0	0	1	0	0	0	15489	14	1	4	482	4	SUSD1	9	114825286	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	131661	114825286	26388145	9946	17658											
SUSD1	64420	broad.mit.edu	37	chr9	114874056	114874056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtcctgctgtctgtgGtcaagttgactgtctcctca	12	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114874056G>A	ENST00000374270.3	-	8	1221	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	SUSD1_ENST00000374263.3_Missense_Mutation_p.T350I|SUSD1_ENST00000374264.2_Missense_Mutation_p.T350I	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	350						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCTGTCTGTGGTCAAGTTGAC	0.532													False	0	False	9:114874056	0	A	114874056	G	A	114874056	3	1	88	1	0	0	0	0	1	0	0	0	15489	1261	44	2	1234	2	SUSD1	9	114874056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48770	114874056	26339375	9947	17659											
KIAA1958	158405	broad.mit.edu	37	chr9	115336390	115336390	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtcttcatacctcatctgaGaatctgtccaaattggtcag	7	10	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115336390G>T	ENST00000337530.6	+	2	326	c.30G>T	c.(28-30)gaG>gaT	p.E10D	KIAA1958_ENST00000374244.3_Missense_Mutation_p.E10D|KIAA1958_ENST00000536272.1_Missense_Mutation_p.E10D	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	10										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCTCATCTGAGAATCTGTCCA	0.438													False	0	False	9:115336390	0	T	115336390	G	T	115336390	3	4	88	1	0	0	0	0	1	0	0	0	8314	933	33	3	32	3	KIAA1958	9	115336390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	462334	115336390	25877041	9948	17660											
KIAA1958	158405	broad.mit.edu	37	chr9	115421560	115421560	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagatccctgcagtgaagttGaacgagctgctcgagaactt	12	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115421560G>A	ENST00000337530.6	+	4	1658	c.1362G>A	c.(1360-1362)ttG>ttA	p.L454L	KIAA1958_ENST00000536272.1_Silent_p.L482L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	454										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGTGAAGTTGAACGAGCTGC	0.552													False	0	False	9:115421560	0	A	115421560	G	A	115421560	2	1	88	1	0	0	0	0	0	0	0	1	8314	1281	45	2		2	KIAA1958	9	115421560	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85170	115421560	25791871	9949	17661											
KIAA1958	158405	broad.mit.edu	37	chr9	115421772	115421772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggcaggcatgtcgggcgCgcgttctcgcaacatcgtct	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115421772C>T	ENST00000337530.6	+	4	1870	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	KIAA1958_ENST00000536272.1_Missense_Mutation_p.A553V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	525										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ATGTCGGGCGCGCGTTCTCGC	0.577													False	0	True	9:115421772	0	T	115421772	C	T	115421772	3	4	88	1	0	0	0	0	1	0	0	0	8314	768	27	1	1584	1	KIAA1958	9	115421772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212	115421772	25791659	9950	17662											
SLC46A2	57864	broad.mit.edu	37	chr9	115652542	115652542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaatagcccgttcagcgcCgccgccccgtacagcacctc	9	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115652542C>T	ENST00000374228.4	-	1	651	c.420G>A	c.(418-420)gcG>gcA	p.A140A		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	140						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGTTCAGCGCCGCCGCCCCGT	0.692													False	0	True	9:115652542	0	T	115652542	C	T	115652542	2	4	88	1	0	0	0	0	0	0	0	1	14725	639	23	1		1	SLC46A2	9	115652542	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230770	115652542	25560889	9951	17663											
ZNF883	169834	broad.mit.edu	37	chr9	115759981	115759981	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtggcaaaaaactttccGacattgcttacactggtagg	9	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115759981G>A	ENST00000427548.1	-	0	1832							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AAAACTTTCCGACATTGCTTA	0.418													False	0	False	9:115759981	0	A	115759981	G	A	115759981	1	1	88	0	1	0	0	0	0	0	0	0	18280	1057	37	1		1	ZNF883	9	115759981	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107439	115759981	25453450	9952	17664											
FKBP15	23307	broad.mit.edu	37	chr9	115928378	115928378	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatcccagccagtcaatgtCatcgtcatcatcatcatctc	4	15	8	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115928378C>T	ENST00000238256.3	-	28	3757	c.3640G>A	c.(3640-3642)Gac>Aac	p.D1214N		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1214	Poly-Asp.				endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CAGTCAATGTCATCGTCATCA	0.527													False	0	True	9:115928378	0	T	115928378	C	T	115928378	3	4	88	1	0	0	0	0	1	0	0	0	5945	826	29	2	23	2	FKBP15	9	115928378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168397	115928378	25285053	9953	17665											
FKBP15	23307	broad.mit.edu	37	chr9	115962165	115962165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatctccaacttctacagCagggccgtctgccacaatga	8	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115962165C>T	ENST00000238256.3	-	7	694	c.577G>A	c.(577-579)Gct>Act	p.A193T		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	193					endocytosis|protein folding	axon|early endosome	actin binding	p.A218T(1)|p.A193T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ACTTCTACAGCAGGGCCGTCT	0.502													False	0	False	9:115962165	0	T	115962165	C	T	115962165	3	4	88	1	0	0	0	0	1	0	0	0	5945	710	25	2	3170	2	FKBP15	9	115962165	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33787	115962165	25251266	9954	17666											
FKBP15	23307	broad.mit.edu	37	chr9	115965247	115965247	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaagtcttaccattagCtcaaagttcacatgaatcct	6	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115965247C>T	ENST00000238256.3	-	5	510	c.393G>A	c.(391-393)gaG>gaA	p.E131E		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	131	Important for function in growth cone organization (By similarity).				endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTACCATTAGCTCAAAGTTCA	0.378													False	0	False	9:115965247	0	T	115965247	C	T	115965247	2	4	88	1	0	0	0	0	0	0	0	1	5945	796	28	2		2	FKBP15	9	115965247	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3082	115965247	25248184	9955	17667											
WDR31	114987	broad.mit.edu	37	chr9	116094247	116094247	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccatcacgacacaaaacCtaaacgaaaccttctgtgga	5	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116094247C>A	ENST00000374195.3	-	0	274				WDR31_ENST00000374193.4_Missense_Mutation_p.R19M|WDR31_ENST00000341761.4_Missense_Mutation_p.R19M|WDR31_ENST00000461942.1_Intron			Q8NA23	WDR31_HUMAN	WD repeat domain 31											NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GACACAAAACCTAAACGAAAC	0.463													False	0	False	9:116094247	0	A	116094247	C	A	116094247	1	1	88	1	0	0	0	0	0	0	0	0	17370	681	24	3		3	WDR31	9	116094247	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129000	116094247	25119184	9956	17668											
C9orf43	257169	broad.mit.edu	37	chr9	116187992	116187992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaacatccagttaccaccGttcatgaccgtctctatggt	6	12	2	1	rs145109883		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116187992G>A	ENST00000288462.4	+	11	1458	c.1012G>A	c.(1012-1014)Gtt>Att	p.V338I	C9orf43_ENST00000374165.1_Missense_Mutation_p.V338I	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	338										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGTTACCACCGTTCATGACCG	0.478													False	0	False	9:116187992	0	A	116187992	G	A	116187992	3	1	88	1	0	0	0	0	1	0	0	0	2503	1145	40	1	1050	1	C9orf43	9	116187992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93745	116187992	25025439	9957	17669											
RGS3	5998	broad.mit.edu	37	chr9	116353676	116353676	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagaaagagcaaaaacCtgtacgttgggaagatccct	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116353676C>T	ENST00000374140.2	+	22	3288	c.3079C>T	c.(3079-3081)Cta>Tta	p.L1027L	RGS3_ENST00000374134.3_Splice_Site_p.L348L|RGS3_ENST00000350696.5_Splice_Site_p.L1027L|RGS3_ENST00000343817.5_Splice_Site_p.L746L|RGS3_ENST00000462143.1_Splice_Site_p.L348L|RGS3_ENST00000394646.3_Splice_Site_p.L420L|RGS3_ENST00000342620.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1027					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCAAAAACCTGTACGTTGG	0.592													False	0	False	9:116353676	0	T	116353676	C	T	116353676	5	4	88	1	0	0	0	0	0	0	1	0	13385	695	24	2	3414	2	RGS3	9	116353676	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165684	116353676	24859755	9958	17670											
AMBP	259	broad.mit.edu	37	chr9	116823712	116823712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acccgcactcacccacagttCggcaggtctgcagacactcc	8	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116823712C>T	ENST00000265132.3	-	8	1107	c.845G>A	c.(844-846)cGa>cAa	p.R282Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	282					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACCCACAGTTCGGCAGGTCTG	0.547													False	0	False	9:116823712	0	T	116823712	C	T	116823712	3	4	88	1	0	0	0	0	1	0	0	0	564	884	31	1	225	1	AMBP	9	116823712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	470036	116823712	24389719	9959	17671											
AMBP	259	broad.mit.edu	37	chr9	116840415	116840415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacttggatgttgtcgggCggcgttggcacagggccagc	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116840415C>T	ENST00000265132.3	-	1	337	c.75G>A	c.(73-75)ccG>ccA	p.P25P		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	25					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	p.P25P(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTTGTCGGGCGGCGTTGGCA	0.617													False	0	True	9:116840415	0	T	116840415	C	T	116840415	2	4	88	1	0	0	0	0	0	0	0	1	564	755	27	1		1	AMBP	9	116840415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16703	116840415	24373016	9960	17672											
KIF12	113220	broad.mit.edu	37	chr9	116856514	116856514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatcccgtacaggttccgCtgggcccaggccacccgggc	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116856514C>T	ENST00000374118.3	-	10	1083	c.846G>A	c.(844-846)caG>caA	p.Q282Q	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	415	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						ACAGGTTCCGCTGGGCCCAGG	0.632													False	0	False	9:116856514	0	T	116856514	C	T	116856514	2	4	88	1	0	0	0	0	0	0	0	1	8323	796	28	2		2	KIF12	9	116856514	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16099	116856514	24356917	9961	17673											
COL27A1	85301	broad.mit.edu	37	chr9	117002747	117002747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaggcctgccgggacccCgtgggcagctggggcccgag	18	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117002747C>T	ENST00000356083.3	+	21	3206	c.2815C>T	c.(2815-2817)Cgt>Tgt	p.R939C		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	939	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCGGGACCCCGTGGGCAGCT	0.667													False	0	True	9:117002747	0	T	117002747	C	T	117002747	3	4	88	1	0	0	0	0	1	0	0	0	3708	652	23	1	2897	1	COL27A1	9	117002747	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146233	117002747	24210684	9962	17674											
COL27A1	85301	broad.mit.edu	37	chr9	117052362	117052362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagggaaagcaaggcaagGcaggggccccaggccggagg	18	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117052362G>A	ENST00000356083.3	+	46	4622	c.4231G>A	c.(4231-4233)Gca>Aca	p.A1411T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1411	Collagen-like 13.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAAGGCAAGGCAGGGGCCCC	0.647													False	0	True	9:117052362	0	A	117052362	G	A	117052362	3	1	88	1	0	0	0	0	1	0	0	0	3708	1203	42	2	4413	2	COL27A1	9	117052362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49615	117052362	24161069	9963	17675											
COL27A1	85301	broad.mit.edu	37	chr9	117069983	117069983	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatccaaaccttggctgctcCtctgacaccatcgaggtctc	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117069983C>A	ENST00000356083.3	+	59	5533	c.5142C>A	c.(5140-5142)tcC>tcA	p.S1714S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1714	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTGGCTGCTCCTCTGACACCA	0.567													False	0	False	9:117069983	0	A	117069983	C	A	117069983	2	1	88	1	0	0	0	0	0	0	0	1	3708	668	24	3		3	COL27A1	9	117069983	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17621	117069983	24143448	9964	17676											
AKNA	80709	broad.mit.edu	37	chr9	117120303	117120303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactttggtgggatgctgcGgacttggtgcctggagggtg	18	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117120303G>A	ENST00000307564.4	-	12	2798	c.2637C>T	c.(2635-2637)tcC>tcT	p.S879S	AKNA_ENST00000223791.3_Silent_p.S339S|AKNA_ENST00000374075.5_Silent_p.S798S|AKNA_ENST00000374088.3_Silent_p.S879S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	879					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGATGCTGCGGACTTGGTGC	0.662													False	0	False	9:117120303	0	A	117120303	G	A	117120303	2	1	88	1	0	0	0	0	0	0	0	1	463	1103	39	1		1	AKNA	9	117120303	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50320	117120303	24093128	9965	17677											
DFNB31	25861	broad.mit.edu	37	chr9	117185786	117185786	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaatggtgcctctcacCtcagagaggagtgagaactg	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117185786C>A	ENST00000362057.3	-	7	1602	c.1434G>T	c.(1432-1434)gaG>gaT	p.E478D	DFNB31_ENST00000265134.6_Missense_Mutation_p.E95D|DFNB31_ENST00000374059.3_Missense_Mutation_p.E127D	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	478					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCCTCTCACCTCAGAGAGGA	0.627													False	0	False	9:117185786	0	A	117185786	C	A	117185786	3	1	88	1	0	0	0	0	1	0	0	0	4485	680	24	3	1313	3	DFNB31	9	117185786	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65483	117185786	24027645	9966	17678											
TNFSF8	944	broad.mit.edu	37	chr9	117666368	117666368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattctggtatacgtgtttcGtttgcattccagactcacac	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117666368G>A	ENST00000223795.2	-	4	661	c.548C>T	c.(547-549)aCg>aTg	p.T183M	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	183					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TACGTGTTTCGTTTGCATTCC	0.423													False	0	True	9:117666368	0	A	117666368	G	A	117666368	3	1	88	1	0	0	0	0	1	0	0	0	16393	1145	40	1	160	1	TNFSF8	9	117666368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	480582	117666368	23547063	9967	17679											
TNFSF8	944	broad.mit.edu	37	chr9	117666569	117666569	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggagaatgccatctttgTtccaagacaacttggttttg	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117666569T>C	ENST00000223795.2	-	4	460	c.347A>G	c.(346-348)aAc>aGc	p.N116S	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	116					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GCCATCTTTGTTCCAAGACAA	0.383													False	0	False	9:117666569	0	C	117666569	T	C	117666569	3	2	88	1	0	0	0	0	1	0	0	0	16393	1725	60	4	361	4	TNFSF8	9	117666569	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	201	117666569	23546862	9968	17680											
TNFSF8	944	broad.mit.edu	37	chr9	117692528	117692528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccgccggcacatgcatgGctgtgtctccaggaggggcc	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117692528G>T	ENST00000223795.2	-	1	169	c.56C>A	c.(55-57)gCc>gAc	p.A19D		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	19					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CACATGCATGGCTGTGTCTCC	0.567													False	0	True	9:117692528	0	T	117692528	G	T	117692528	3	4	88	1	0	0	0	0	1	0	0	0	16393	1203	42	3	664	3	TNFSF8	9	117692528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25959	117692528	23520903	9969	17681											
TNC	3371	broad.mit.edu	37	chr9	117826322	117826322	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagcccacctcggccaccacGacctctcccaaattgggagt	8	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117826322G>A	ENST00000350763.4	-	12	3924	c.3513C>T	c.(3511-3513)gtC>gtT	p.V1171V	TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Silent_p.V1171V|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Silent_p.V1171V|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1171	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CGGCCACCACGACCTCTCCCA	0.488													False	0	False	9:117826322	0	A	117826322	G	A	117826322	2	1	88	1	0	0	0	0	0	0	0	1	16352	1045	37	1		1	TNC	9	117826322	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133794	117826322	23387109	9970	17682											
TNC	3371	broad.mit.edu	37	chr9	117826947	117826947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaggcctcagcagagaGcactggtgttctatagccct	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117826947G>A	ENST00000350763.4	-	11	3877	c.3466C>T	c.(3466-3468)Ctc>Ttc	p.L1156F	TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.L1156F|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.L1156F|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1156	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCAGCAGAGAGCACTGGTGTT	0.512													False	0	True	9:117826947	0	A	117826947	G	A	117826947	3	1	88	1	0	0	0	0	1	0	0	0	16352	971	34	2	3211	2	TNC	9	117826947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	625	117826947	23386484	9971	17683											
TNC	3371	broad.mit.edu	37	chr9	117827095	117827095	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgttggcctcctgcacctgAatgataaagtgctcataggc	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117827095A>C	ENST00000350763.4	-	11	3729	c.3318T>G	c.(3316-3318)atT>atG	p.I1106M	TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.I1106M|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.I1106M|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1106	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGCACCTGAATGATAAAGT	0.602													False	0	False	9:117827095	0	C	117827095	A	C	117827095	3	2	88	1	0	0	0	0	1	0	0	0	16352	242	9	4	3359	4	TNC	9	117827095	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	148	117827095	23386336	9972	17684											
TNC	3371	broad.mit.edu	37	chr9	117845074	117845074	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttgaatttcaggccttcaGgtgcaggtaagtctgtaagt	11	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117845074G>T	ENST00000350763.4	-	5	2555	c.2144C>A	c.(2143-2145)cCt>cAt	p.P715H	TNC_ENST00000537320.1_Missense_Mutation_p.P715H|TNC_ENST00000340094.3_Missense_Mutation_p.P715H|TNC_ENST00000345230.3_Missense_Mutation_p.P715H|TNC_ENST00000341037.4_Missense_Mutation_p.P715H|TNC_ENST00000346706.3_Missense_Mutation_p.P715H|TNC_ENST00000423613.2_Missense_Mutation_p.P715H|TNC_ENST00000542877.1_Missense_Mutation_p.P715H|TNC_ENST00000535648.1_Missense_Mutation_p.P715H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	715	Fibronectin type-III 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGGCCTTCAGGTGCAGGTAA	0.468													False	0	False	9:117845074	0	T	117845074	G	T	117845074	3	4	88	1	0	0	0	0	1	0	0	0	16352	1000	35	3	4557	3	TNC	9	117845074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17979	117845074	23368357	9973	17685											
TNC	3371	broad.mit.edu	37	chr9	117846513	117846513	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccaccctggcgctgacaggAatgctcttcttgttctccag	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117846513A>C	ENST00000350763.4	-	4	2517	c.2106T>G	c.(2104-2106)atT>atG	p.I702M	TNC_ENST00000537320.1_Missense_Mutation_p.I702M|TNC_ENST00000340094.3_Missense_Mutation_p.I702M|TNC_ENST00000345230.3_Missense_Mutation_p.I702M|TNC_ENST00000341037.4_Missense_Mutation_p.I702M|TNC_ENST00000346706.3_Missense_Mutation_p.I702M|TNC_ENST00000423613.2_Missense_Mutation_p.I702M|TNC_ENST00000542877.1_Missense_Mutation_p.I702M|TNC_ENST00000535648.1_Missense_Mutation_p.I702M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	702	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CGCTGACAGGAATGCTCTTCT	0.577													False	0	False	9:117846513	0	C	117846513	A	C	117846513	3	2	88	1	0	0	0	0	1	0	0	0	16352	242	9	4	4599	4	TNC	9	117846513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1439	117846513	23366918	9974	17686											
TNC	3371	broad.mit.edu	37	chr9	117846662	117846662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggcgtgtacacgacaaGgtactctgtgacccgcatct	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117846662G>A	ENST00000350763.4	-	4	2368	c.1957C>T	c.(1957-1959)Ctt>Ttt	p.L653F	TNC_ENST00000537320.1_Missense_Mutation_p.L653F|TNC_ENST00000340094.3_Missense_Mutation_p.L653F|TNC_ENST00000345230.3_Missense_Mutation_p.L653F|TNC_ENST00000341037.4_Missense_Mutation_p.L653F|TNC_ENST00000346706.3_Missense_Mutation_p.L653F|TNC_ENST00000423613.2_Missense_Mutation_p.L653F|TNC_ENST00000542877.1_Missense_Mutation_p.L653F|TNC_ENST00000535648.1_Missense_Mutation_p.L653F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	653	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TACACGACAAGGTACTCTGTG	0.582													False	0	False	9:117846662	0	A	117846662	G	A	117846662	3	1	88	1	0	0	0	0	1	0	0	0	16352	1000	35	2	4748	2	TNC	9	117846662	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	117846662	23366769	9975	17687											
TNC	3371	broad.mit.edu	37	chr9	117848402	117848402	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacagcgaccctggccatgGcagtcatttggacaggagag	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117848402G>T	ENST00000350763.4	-	3	2019	c.1608C>A	c.(1606-1608)tgC>tgA	p.C536*	TNC_ENST00000537320.1_Nonsense_Mutation_p.C536*|TNC_ENST00000340094.3_Nonsense_Mutation_p.C536*|TNC_ENST00000345230.3_Nonsense_Mutation_p.C536*|TNC_ENST00000341037.4_Nonsense_Mutation_p.C536*|TNC_ENST00000346706.3_Nonsense_Mutation_p.C536*|TNC_ENST00000423613.2_Nonsense_Mutation_p.C536*|TNC_ENST00000542877.1_Nonsense_Mutation_p.C536*|TNC_ENST00000535648.1_Nonsense_Mutation_p.C536*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	536	EGF-like 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGGCCATGGCAGTCATTTG	0.582													False	0	False	9:117848402	0	T	117848402	G	T	117848402	4	4	88	1	0	0	0	0	0	1	0	0	16352	1195	42	3	5101	3	TNC	9	117848402	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1740	117848402	23365029	9976	17688											
TNC	3371	broad.mit.edu	37	chr9	117848462	117848462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagccgtcctcacagacGcactgtccgtccacacagag	10	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117848462G>A	ENST00000350763.4	-	3	1959	c.1548C>T	c.(1546-1548)tgC>tgT	p.C516C	TNC_ENST00000537320.1_Silent_p.C516C|TNC_ENST00000340094.3_Silent_p.C516C|TNC_ENST00000345230.3_Silent_p.C516C|TNC_ENST00000341037.4_Silent_p.C516C|TNC_ENST00000346706.3_Silent_p.C516C|TNC_ENST00000423613.2_Silent_p.C516C|TNC_ENST00000542877.1_Silent_p.C516C|TNC_ENST00000535648.1_Silent_p.C516C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	516	EGF-like 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTCACAGACGCACTGTCCGT	0.612													False	0	False	9:117848462	0	A	117848462	G	A	117848462	2	1	88	1	0	0	0	0	0	0	0	1	16352	1079	38	1		1	TNC	9	117848462	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	117848462	23364969	9977	17689											
TNC	3371	broad.mit.edu	37	chr9	117849189	117849189	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcagtcatcgcctgcaAagccatcgtggcacacacac	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117849189A>C	ENST00000350763.4	-	3	1232	c.821T>G	c.(820-822)tTt>tGt	p.F274C	TNC_ENST00000537320.1_Missense_Mutation_p.F274C|TNC_ENST00000340094.3_Missense_Mutation_p.F274C|TNC_ENST00000345230.3_Missense_Mutation_p.F274C|TNC_ENST00000341037.4_Missense_Mutation_p.F274C|TNC_ENST00000346706.3_Missense_Mutation_p.F274C|TNC_ENST00000423613.2_Missense_Mutation_p.F274C|TNC_ENST00000542877.1_Missense_Mutation_p.F274C|TNC_ENST00000535648.1_Missense_Mutation_p.F274C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	274	EGF-like 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATCGCCTGCAAAGCCATCGTG	0.577													False	0	True	9:117849189	0	C	117849189	A	C	117849189	3	2	88	1	0	0	0	0	1	0	0	0	16352	14	1	4	5888	4	TNC	9	117849189	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	727	117849189	23364242	9978	17690											
PAPPA	5069	broad.mit.edu	37	chr9	118950319	118950319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaccacacgctgacgggCcacgacggcggggattgccg	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:118950319C>T	ENST00000328252.3	+	2	1671	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	434	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CGCTGACGGGCCACGACGGCG	0.607													False	0	True	9:118950319	0	T	118950319	C	T	118950319	2	4	88	1	0	0	0	0	0	0	0	1	11500	726	26	2		2	PAPPA	9	118950319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1101130	118950319	22263112	9979	17691											
PAPPA	5069	broad.mit.edu	37	chr9	119093522	119093522	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttttctttatatttttccaGgtgtgtcgaaccaaggtgat	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119093522G>A	ENST00000328252.3	+	11	3516		c.e11-1		PAPPA_ENST00000534838.1_Splice_Site	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1						cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TATTTTTCCAGGTGTGTCGAA	0.403													False	0	True	9:119093522	0	A	119093522	G	A	119093522	5	1	88	1	0	0	0	0	0	0	1	0	11500	1014	35	2	3189	2	PAPPA	9	119093522	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143203	119093522	22119909	9980	17692											
PAPPA	5069	broad.mit.edu	37	chr9	119158837	119158837	+	Missense_Mutation	SNP	G	G	A													acaaggtgactgtgcttgtcGggacccccaggcccaagaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119158837G>A	ENST00000328252.3	+	22	5195	c.4826G>A	c.(4825-4827)cGg>cAg	p.R1609Q	PAPPA_ENST00000534838.1_Missense_Mutation_p.R647Q|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1609					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTGCTTGTCGGGACCCCCAG	0.517													False	0	True	9:119158837	0	A	119158837	G	A	119158837	3	1	88	1	0	0	0	0	1	0	0	0	11500	1116	39	1	4912	1	PAPPA	9	119158837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65315	119158837	22054594	9981	17693	208	2									
PAPPA	5069	broad.mit.edu	37	chr9	119158838	119158838	+	Silent	SNP	G	G	A													caaggtgactgtgcttgtcgGgacccccaggcccaagaaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119158838G>A	ENST00000328252.3	+	22	5196	c.4827G>A	c.(4825-4827)cgG>cgA	p.R1609R	PAPPA_ENST00000534838.1_Silent_p.R647R|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1609					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGCTTGTCGGGACCCCCAGG	0.517													False	0	True	9:119158838	0	A	119158838	G	A	119158838	2	1	88	1	0	0	0	0	0	0	0	1	11500	1219	43	2		2	PAPPA	9	119158838	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	119158838	22054593	9982	17694	208	2									
TRIM32	22954	broad.mit.edu	37	chr9	119461183	119461183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaggtgaagtactagtcGctgaccgtggtaactatcgt	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119461183G>A	ENST00000450136.1	+	2	1323	c.1162G>A	c.(1162-1164)Gct>Act	p.A388T	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.A388T	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	388					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGTACTAGTCGCTGACCGTGG	0.493													False	0	False	9:119461183	0	A	119461183	G	A	119461183	3	1	88	1	0	0	0	0	1	0	0	0	16589	1087	38	1	1164	1	TRIM32	9	119461183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302345	119461183	21752248	9983	17695											
TRIM32	22954	broad.mit.edu	37	chr9	119461253	119461253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaaatccgccgcagccCcagtggcattgatagctttg	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119461253C>T	ENST00000450136.1	+	2	1393	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.P411L	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	411					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCCGCAGCCCCAGTGGCATT	0.512													False	0	True	9:119461253	0	T	119461253	C	T	119461253	3	4	88	1	0	0	0	0	1	0	0	0	16589	623	22	2	1234	2	TRIM32	9	119461253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70	119461253	21752178	9984	17696											
ASTN2	23245	broad.mit.edu	37	chr9	119737600	119737600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgacaggaagccagagGccttggcccaagctgaaagt	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119737600G>A	ENST00000313400.4	-	10	1876	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	ASTN2_ENST00000361209.2_Silent_p.G541G|ASTN2_ENST00000373996.3_Silent_p.G588G|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	592						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAAGCCAGAGGCCTTGGCCCA	0.557													False	0	False	9:119737600	0	A	119737600	G	A	119737600	2	1	88	1	0	0	0	0	0	0	0	1	1069	1190	42	2		2	ASTN2	9	119737600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	276347	119737600	21475831	9985	17697											
ASTN2	23245	broad.mit.edu	37	chr9	119802151	119802151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccttcacagtgagtggaCaagacatctggctgccacac	9	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119802151C>T	ENST00000313400.4	-	6	1470	c.1370G>A	c.(1369-1371)tGt>tAt	p.C457Y	ASTN2_ENST00000361209.2_Missense_Mutation_p.C406Y|ASTN2_ENST00000373996.3_Missense_Mutation_p.C457Y|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	457						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGTGAGTGGACAAGACATCTG	0.537													False	0	False	9:119802151	0	T	119802151	C	T	119802151	3	4	88	1	0	0	0	0	1	0	0	0	1069	478	17	2	2953	2	ASTN2	9	119802151	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64551	119802151	21411280	9986	17698											
TLR4	7099	broad.mit.edu	37	chr9	120475182	120475182	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagaagtccatcgtttggTtctgggagaatttagaaatg	11	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:120475182T>C	ENST00000355622.6	+	3	877	c.776T>C	c.(775-777)gTt>gCt	p.V259A	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.V219A	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	259					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CATCGTTTGGTTCTGGGAGAA	0.353													False	0	False	9:120475182	0	C	120475182	T	C	120475182	3	2	88	1	0	0	0	0	1	0	0	0	16035	1725	60	4	786	4	TLR4	9	120475182	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	673031	120475182	20738249	9987	17699											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123206003	123206003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctgtcctggtaggctgCtcccacagggggctgagcta	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123206003C>T	ENST00000349780.4	-	23	3222	c.3043G>A	c.(3043-3045)Gca>Aca	p.A1015T	CDK5RAP2_ENST00000359309.3_Intron|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.A983T|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.A1015T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1015	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGGTAGGCTGCTCCCACAGGG	0.453													False	0	False	9:123206003	0	T	123206003	C	T	123206003	3	4	88	1	0	0	0	0	1	0	0	0	3169	797	28	2	2702	2	CDK5RAP2	9	123206003	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2730821	123206003	18007428	9988	17700											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123253655	123253655	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctcttgattgtgcaatTttttattgctttcactcaga	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123253655T>G	ENST00000349780.4	-	13	1591	c.1412A>C	c.(1411-1413)aAa>aCa	p.K471T	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.K471T|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.K471T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	471					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATTGTGCAATTTTTTATTGCT	0.323													False	0	True	9:123253655	0	G	123253655	T	G	123253655	3	3	88	1	0	0	0	0	1	0	0	0	3169	1841	64	4	4373	4	CDK5RAP2	9	123253655	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47652	123253655	17959776	9989	17701											
MEGF9	1955	broad.mit.edu	37	chr9	123384921	123384921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcatcgcaactggcagaccGattattgcattggcagggca	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123384921G>A	ENST00000373930.3	-	3	1027	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	MEGF9_ENST00000426959.1_Missense_Mutation_p.R343W	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	306	Laminin EGF-like 3.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CTGGCAGACCGATTATTGCAT	0.428													False	0	False	9:123384921	0	A	123384921	G	A	123384921	3	1	88	1	0	0	0	0	1	0	0	0	9531	1057	37	1	908	1	MEGF9	9	123384921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131266	123384921	17828510	9990	17702											
FBXW2	0	broad.mit.edu	37	chr9	123538497	123538497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcatcattgtagtccacGctaaatactagtgcatataa	6	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123538497G>A	ENST00000608872.1	-	5	880	c.693C>T	c.(691-693)agC>agT	p.S231S	FBXW2_ENST00000493559.1_5'UTR|FBXW2_ENST00000340778.5_Silent_p.S166S	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2						proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TGTAGTCCACGCTAAATACTA	0.378													False	0	False	9:123538497	0	A	123538497	G	A	123538497	2	1	88	1	0	0	0	0	0	0	0	1	5806	1078	38	1		1	FBXW2	9	123538497	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153576	123538497	17674934	9991	17703											
C5	727	broad.mit.edu	37	chr9	123751958	123751958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatagaatactgggacaacGctcatcagctccgcctctgc	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123751958G>A	ENST00000223642.1	-	24	3071	c.3042C>T	c.(3040-3042)agC>agT	p.S1014S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1014					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTGGGACAACGCTCATCAGCT	0.433													False	0	False	9:123751958	0	A	123751958	G	A	123751958	2	1	88	1	0	0	0	0	0	0	0	1	2297	1078	38	1		1	C5	9	123751958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	213461	123751958	17461473	9992	17704											
C5	727	broad.mit.edu	37	chr9	123753544	123753544	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtatgggaactcctttcGtctgctaatggtacctgtaa	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123753544G>A	ENST00000223642.1	-	23	2895	c.2866C>T	c.(2866-2868)Cga>Tga	p.R956*		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	956					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AACTCCTTTCGTCTGCTAATG	0.333													False	0	False	9:123753544	0	A	123753544	G	A	123753544	4	1	88	1	0	0	0	0	0	1	0	0	2297	1153	40	1	2240	1	C5	9	123753544	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1586	123753544	17459887	9993	17705											
GSN	2934	broad.mit.edu	37	chr9	124081117	124081117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctccactgccatggccGcccagcacggcatggatgac	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124081117G>A	ENST00000373823.3	+	17	2055	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	GSN_ENST00000394353.2_Missense_Mutation_p.A395T|GSN_ENST00000449733.1_Missense_Mutation_p.A384T|GSN_ENST00000341272.2_Missense_Mutation_p.A384T|GSN_ENST00000373818.4_Missense_Mutation_p.A435T|GSN_ENST00000545652.1_Missense_Mutation_p.A392T|GSN_ENST00000373807.1_Missense_Mutation_p.A166T|GSN_ENST00000373808.2_Missense_Mutation_p.A384T|GSN_ENST00000436847.1_Missense_Mutation_p.A395T|GSN_ENST00000412819.1_Missense_Mutation_p.A384T			P06396	GELS_HUMAN	gelsolin	435					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGCCATGGCCGCCCAGCACGG	0.637													False	0	True	9:124081117	0	A	124081117	G	A	124081117	3	1	88	1	0	0	0	0	1	0	0	0	6872	1087	38	1	1365	1	GSN	9	124081117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	327573	124081117	17132314	9994	17706											
GSN	2934	broad.mit.edu	37	chr9	124091191	124091191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttctgggaggccctgggCgggaaggctgcctaccgcac	17	13	1	0	rs145066574		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124091191C>T	ENST00000373823.3	+	22	2690	c.1785C>T	c.(1783-1785)ggC>ggT	p.G595G	GSN_ENST00000394353.2_Silent_p.G606G|GSN_ENST00000449733.1_Silent_p.G595G|GSN_ENST00000341272.2_Silent_p.G595G|GSN_ENST00000373818.4_Silent_p.G646G|GSN_ENST00000545652.1_Silent_p.G603G|GSN_ENST00000373807.1_Silent_p.G377G|GSN_ENST00000373808.2_Silent_p.G595G|GSN_ENST00000373806.1_Silent_p.G71G|GSN_ENST00000436847.1_Silent_p.G606G|GSN_ENST00000412819.1_Silent_p.G595G			P06396	GELS_HUMAN	gelsolin	646	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AGGCCCTGGGCGGGAAGGCTG	0.622													False	0	True	9:124091191	0	T	124091191	C	T	124091191	2	4	88	1	0	0	0	0	0	0	0	1	6872	755	27	1		1	GSN	9	124091191	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10074	124091191	17122240	9995	17707											
STOM	2040	broad.mit.edu	37	chr9	124111572	124111572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatagaccacaccatccacGctaattgtcactgaatcctt	4	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124111572G>A	ENST00000286713.2	-	5	368	c.351C>T	c.(349-351)agC>agT	p.S117S	STOM_ENST00000538954.1_Silent_p.S66S|STOM_ENST00000347359.2_Intron	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	117					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CACCATCCACGCTAATTGTCA	0.418													False	0	False	9:124111572	0	A	124111572	G	A	124111572	2	1	88	1	0	0	0	0	0	0	0	1	15394	1078	38	1		1	STOM	9	124111572	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20381	124111572	17101859	9996	17708											
DAB2IP	153090	broad.mit.edu	37	chr9	124522508	124522508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacgcccaaccccaagggCggcaagggccctggacccat	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124522508C>T	ENST00000408936.3	+	6	1142	c.960C>T	c.(958-960)ggC>ggT	p.G320G	DAB2IP_ENST00000259371.2_Silent_p.G292G|DAB2IP_ENST00000309989.1_Silent_p.G196G			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	320					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						ACCCCAAGGGCGGCAAGGGCC	0.622													False	0	True	9:124522508	0	T	124522508	C	T	124522508	2	4	88	1	0	0	0	0	0	0	0	1	4244	755	27	1		1	DAB2IP	9	124522508	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410936	124522508	16690923	9997	17709											
TTLL11	158135	broad.mit.edu	37	chr9	124751937	124751937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggagggtccctgccaggCggatgtcactggggtcttta	15	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124751937C>T	ENST00000321582.5	-	4	1263	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	TTLL11_ENST00000373776.3_Missense_Mutation_p.R359H|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	359	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCCTGCCAGGCGGATGTCACT	0.517													False	0	False	9:124751937	0	T	124751937	C	T	124751937	3	4	88	1	0	0	0	0	1	0	0	0	16808	768	27	1	1428	1	TTLL11	9	124751937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229429	124751937	16461494	9998	17710											
NDUFA8	4702	broad.mit.edu	37	chr9	124914656	124914656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctccatagtgatgggccGcagctttaagcacagcagaa	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124914656G>A	ENST00000537618.1	-	2	192	c.83C>T	c.(82-84)gCg>gTg	p.A28V	NDUFA8_ENST00000373768.3_Missense_Mutation_p.A28V			P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	28					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					NADH(DB00157)	GTGATGGGCCGCAGCTTTAAG	0.478													False	0	False	9:124914656	0	A	124914656	G	A	124914656	3	1	88	1	0	0	0	0	1	0	0	0	10339	1087	38	1	447	1	NDUFA8	9	124914656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162719	124914656	16298775	9999	17711											
LHX6	26468	broad.mit.edu	37	chr9	124979498	124979498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggtggtaggcgttgccGcgagctctccgcacccagtc	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124979498G>A	ENST00000394319.4	-	5	635	c.531C>T	c.(529-531)cgC>cgT	p.R177R	LHX6_ENST00000373754.2_Silent_p.R148R|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000373755.2_Silent_p.R148R|LHX6_ENST00000340587.3_Silent_p.R177R|LHX6_ENST00000541397.2_Silent_p.R166R	NM_014368.4	NP_055183.2	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	148	LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						AGGCGTTGCCGCGAGCTCTCC	0.667													False	0	False	9:124979498	0	A	124979498	G	A	124979498	2	1	88	1	0	0	0	0	0	0	0	1	8827	1074	38	1		1	LHX6	9	124979498	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64842	124979498	16233933	10000	17712											
PTGS1	5742	broad.mit.edu	37	chr9	125148839	125148839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagttccaataccgcaaccGcattgccatggagttcaacc	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125148839G>A	ENST00000362012.2	+	9	1129	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	PTGS1_ENST00000223423.4_Missense_Mutation_p.R375H|PTGS1_ENST00000540753.1_Missense_Mutation_p.R350H|PTGS1_ENST00000373698.5_Missense_Mutation_p.R266H|AL162424.1_ENST00000600713.1_Intron	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	375					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TACCGCAACCGCATTGCCATG	0.537													False	0	True	9:125148839	0	A	125148839	G	A	125148839	3	1	88	1	0	0	0	0	1	0	0	0	12832	1087	38	1	1158	1	PTGS1	9	125148839	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169341	125148839	16064592	10001	17713											
OR1J2	26740	broad.mit.edu	37	chr9	125273896	125273896	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttctattgacaaggatgtCattgtggctctcatgtacac	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125273896C>A	ENST00000335302.5	+	1	816	c.816C>A	c.(814-816)gtC>gtA	p.V272V		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACAAGGATGTCATTGTGGCTC	0.478													False	0	False	9:125273896	0	A	125273896	C	A	125273896	2	1	88	1	0	0	0	0	0	0	0	1	11028	813	29	3		3	OR1J2	9	125273896	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125057	125273896	15939535	10002	17714											
OR1N2	138882	broad.mit.edu	37	chr9	125316257	125316257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggttctgctcttctatgGgtctcttatgggtgtgtatt	13	6	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125316257G>A	ENST00000373688.2	+	1	867	c.809G>A	c.(808-810)gGg>gAg	p.G270E		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCTTCTATGGGTCTCTTATG	0.473													False	0	True	9:125316257	0	A	125316257	G	A	125316257	3	1	88	1	0	0	0	0	1	0	0	0	11038	1232	43	2	811	2	OR1N2	9	125316257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42361	125316257	15897174	10003	17715											
OR1L8	138881	broad.mit.edu	37	chr9	125329904	125329904	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtagataaaaggattgaGcatggatgacaaaactgtgt	12	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125329904G>T	ENST00000304865.2	-	1	934	c.853C>A	c.(853-855)Ctc>Atc	p.L285I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAAGGATTGAGCATGGATGAC	0.453													False	0	False	9:125329904	0	T	125329904	G	T	125329904	3	4	88	1	0	0	0	0	1	0	0	0	11035	971	34	3	80	3	OR1L8	9	125329904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13647	125329904	15883527	10004	17716											
OR1Q1	158131	broad.mit.edu	37	chr9	125377105	125377105	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatcccactcttccttgTtttctcactcatgtacgcaa	4	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125377105T>G	ENST00000297913.2	+	1	158	c.89T>G	c.(88-90)gTt>gGt	p.V30G	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTCTTCCTTGTTTTCTCACTC	0.478													False	0	True	9:125377105	0	G	125377105	T	G	125377105	3	3	88	1	0	0	0	0	1	0	0	0	11039	1725	60	4	91	4	OR1Q1	9	125377105	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47201	125377105	15836326	10005	17717											
OR1L1	26737	broad.mit.edu	37	chr9	125423951	125423951	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattgtatcagatgttggaaGaatctgttacagtgttagtt	11	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125423951G>A	ENST00000373686.1	+	1	107	c.107G>A	c.(106-108)aGa>aAa	p.R36K				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GATGTTGGAAGAATCTGTTAC	0.343													False	0	False	9:125423951	0	A	125423951	G	A	125423951	3	1	88	1	0	0	0	0	1	0	0	0	11031	957	33	2		2	OR1L1	9	125423951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46846	125423951	15789480	10006	17718											
OR1L4	254973	broad.mit.edu	37	chr9	125486321	125486321	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcatcctcctgggccTctcttccaaccctaagctgc	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125486321T>A	ENST00000259466.1	+	1	53	c.53T>A	c.(52-54)cTc>cAc	p.L18H		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CTCCTGGGCCTCTCTTCCAAC	0.502													False	0	True	9:125486321	0	A	125486321	T	A	125486321	3	1	88	1	0	0	0	0	1	0	0	0	11033	1551	54	5	55	5	OR1L4	9	125486321	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62370	125486321	15727110	10007	17719											
OR1L4	254973	broad.mit.edu	37	chr9	125486692	125486692	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttatgaaaccatggcatTgcctactcatgctattgggt	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125486692T>C	ENST00000259466.1	+	1	424	c.424T>C	c.(424-426)Tgc>Cgc	p.C142R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ACCATGGCATTGCCTACTCAT	0.517													False	0	False	9:125486692	0	C	125486692	T	C	125486692	3	2	88	1	0	0	0	0	1	0	0	0	11033	1812	63	4	426	4	OR1L4	9	125486692	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	371	125486692	15726739	10008	17720											
OR1L6	392390	broad.mit.edu	37	chr9	125512172	125512172	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacctcaggcttcatcctcCtgggcctctcttccaaccct	6	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125512172C>A	ENST00000373684.1	+	1	154	c.154C>A	c.(154-156)Ctg>Atg	p.L52M	OR1L6_ENST00000304720.2_Missense_Mutation_p.L16M			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CTTCATCCTCCTGGGCCTCTC	0.542													False	0	False	9:125512172	0	A	125512172	C	A	125512172	3	1	88	1	0	0	0	0	1	0	0	0	11034	680	24	3	48	3	OR1L6	9	125512172	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25480	125512172	15701259	10009	17721											
OR1L6	392390	broad.mit.edu	37	chr9	125512484	125512484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacctgctggcctctatgGccatcgaccggctggtggcc	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125512484G>A	ENST00000373684.1	+	1	466	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	OR1L6_ENST00000304720.2_Missense_Mutation_p.A120T			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GGCCTCTATGGCCATCGACCG	0.512													False	0	False	9:125512484	0	A	125512484	G	A	125512484	3	1	88	1	0	0	0	0	1	0	0	0	11034	1203	42	2	360	2	OR1L6	9	125512484	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	312	125512484	15700947	10010	17722											
OR1L6	392390	broad.mit.edu	37	chr9	125513037	125513037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagaggggtttgaagaAattacaggacagaatttacc	11	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125513037A>G	ENST00000373684.1	+	1	1019	c.1019A>G	c.(1018-1020)aAa>aGa	p.K340R	OR1L6_ENST00000304720.2_Missense_Mutation_p.K304R			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	340					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GGTTTGAAGAAATTACAGGAC	0.403													False	0	True	9:125513037	0	G	125513037	A	G	125513037	3	3	88	1	0	0	0	0	1	0	0	0	11034	14	1	4	913	4	OR1L6	9	125513037	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	553	125513037	15700394	10011	17723											
OR5C1	392391	broad.mit.edu	37	chr9	125551396	125551396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcccggctccacacacCtatgtacttcttcctggcca	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125551396C>T	ENST00000373680.2	+	1	247	c.185C>T	c.(184-186)cCt>cTt	p.P62L		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTCCACACACCTATGTACTTC	0.627													False	0	True	9:125551396	0	T	125551396	C	T	125551396	3	4	88	1	0	0	0	0	1	0	0	0	11221	681	24	2	187	2	OR5C1	9	125551396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38359	125551396	15662035	10012	17724											
OR1K1	0	broad.mit.edu	37	chr9	125563013	125563013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcatcttcaccgagggCgccgcagtggtggtcactcc	12	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125563013C>T	ENST00000277309.2	+	1	644	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TCACCGAGGGCGCCGCAGTGG	0.637													False	0	True	9:125563013	0	T	125563013	C	T	125563013	2	4	88	1	0	0	0	0	0	0	0	1	11030	755	27	1		1	OR1K1	9	125563013	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11617	125563013	15650418	10013	17725											
PDCL	5082	broad.mit.edu	37	chr9	125585390	125585390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattgacagcttcttgatcaGcctttccatctcccggcact	6	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125585390G>T	ENST00000259467.4	-	3	424	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	87					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TTCTTGATCAGCCTTTCCATC	0.522													False	0	False	9:125585390	0	T	125585390	G	T	125585390	3	4	88	1	0	0	0	0	1	0	0	0	11694	962	34	3	654	3	PDCL	9	125585390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22377	125585390	15628041	10014	17726											
RC3H2	54542	broad.mit.edu	37	chr9	125627791	125627791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaattccgtttgtacttgGaacaattttccctgttgttt	7	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125627791G>A	ENST00000373670.1	-	9	2071	c.1471C>T	c.(1471-1473)Cca>Tca	p.P491S	RC3H2_ENST00000423239.2_Missense_Mutation_p.P491S|RC3H2_ENST00000373665.2_Silent_p.F463F|RC3H2_ENST00000357244.2_Missense_Mutation_p.P491S			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	491						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTGTACTTGGAACAATTTTC	0.403													False	0	False	9:125627791	0	A	125627791	G	A	125627791	3	1	88	1	0	0	0	0	1	0	0	0	13246	1174	41	2	2230	2	RC3H2	9	125627791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42401	125627791	15585640	10015	17727											
RC3H2	54542	broad.mit.edu	37	chr9	125652725	125652725	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacgagctgctcgcatggctCttacacgaccttcttcctcc	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125652725C>A	ENST00000373670.1	-	3	1049	c.449G>T	c.(448-450)aGa>aTa	p.R150I	RC3H2_ENST00000423239.2_Missense_Mutation_p.R150I|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000335387.5_Missense_Mutation_p.R150I|RC3H2_ENST00000373665.2_Missense_Mutation_p.R150I|RC3H2_ENST00000471874.2_Missense_Mutation_p.R150I|RC3H2_ENST00000357244.2_Missense_Mutation_p.R150I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	150						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCGCATGGCTCTTACACGACC	0.502													False	0	False	9:125652725	0	A	125652725	C	A	125652725	3	1	88	1	0	0	0	0	1	0	0	0	13246	913	32	3	3276	3	RC3H2	9	125652725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24934	125652725	15560706	10016	17728											
RC3H2	54542	broad.mit.edu	37	chr9	125659639	125659639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggcagtctggtcaaaaggAcaagcttttcgatgaagttt	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125659639A>G	ENST00000373670.1	-	1	750	c.150T>C	c.(148-150)tgT>tgC	p.C50C	RC3H2_ENST00000423239.2_Silent_p.C50C|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000335387.5_Silent_p.C50C|RC3H2_ENST00000373665.2_Silent_p.C50C|RC3H2_ENST00000471874.2_Silent_p.C50C|RC3H2_ENST00000357244.2_Silent_p.C50C			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	50						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGTCAAAAGGACAAGCTTTTC	0.403													False	0	False	9:125659639	0	G	125659639	A	G	125659639	2	3	88	1	0	0	0	0	0	0	0	1	13246	273	10	4		4	RC3H2	9	125659639	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6914	125659639	15553792	10017	17729											
RC3H2	54542	broad.mit.edu	37	chr9	125659725	125659725	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggtttgtgcacattctcatCaaattcattatagcagattg	8	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125659725C>T	ENST00000373670.1	-	1	664	c.64G>A	c.(64-66)Gat>Aat	p.D22N	RC3H2_ENST00000423239.2_Missense_Mutation_p.D22N|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000335387.5_Missense_Mutation_p.D22N|RC3H2_ENST00000373665.2_Missense_Mutation_p.D22N|RC3H2_ENST00000471874.2_Missense_Mutation_p.D22N|RC3H2_ENST00000357244.2_Missense_Mutation_p.D22N			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	22						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACATTCTCATCAAATTCATTA	0.443													False	0	True	9:125659725	0	T	125659725	C	T	125659725	3	4	88	1	0	0	0	0	1	0	0	0	13246	826	29	2	3669	2	RC3H2	9	125659725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	125659725	15553706	10018	17730											
ZBTB26	57684	broad.mit.edu	37	chr9	125681859	125681859	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccacagggcctgtgtgcAccgttctacaatgtggctca	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125681859A>G	ENST00000373656.3	-	2	428	c.355T>C	c.(355-357)Tgc>Cgc	p.C119R	ZBTB26_ENST00000373654.1_Missense_Mutation_p.C119R	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GCCTGTGTGCACCGTTCTACA	0.443													False	0	False	9:125681859	0	G	125681859	A	G	125681859	3	3	88	1	0	0	0	0	1	0	0	0	17616	159	6	4	974	4	ZBTB26	9	125681859	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22134	125681859	15531572	10019	17731											
RABGAP1	23637	broad.mit.edu	37	chr9	125746835	125746835	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatggatcctccaatggaCgaccagccaggggaaaagga	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125746835C>T	ENST00000373647.4	+	3	356	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	74					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CTCCAATGGACGACCAGCCAG	0.478													False	0	False	9:125746835	0	T	125746835	C	T	125746835	2	4	88	1	0	0	0	0	0	0	0	1	13043	535	19	1		1	RABGAP1	9	125746835	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64976	125746835	15466596	10020	17732											
RABGAP1	23637	broad.mit.edu	37	chr9	125758828	125758828	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttttttgtaggtgttttggtCttctccttagtccaggaaaa	9	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125758828C>A	ENST00000373647.4	+	8	1179	c.1045C>A	c.(1045-1047)Ctt>Att	p.L349I		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	349					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GTGTTTTGGTCTTCTCCTTAG	0.289													False	0	False	9:125758828	0	A	125758828	C	A	125758828	3	1	88	1	0	0	0	0	1	0	0	0	13043	913	32	3	1071	3	RABGAP1	9	125758828	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11993	125758828	15454603	10021	17733											
GPR21	2844	broad.mit.edu	37	chr9	125797524	125797524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcacacaaaggatatcagcGaaaggcaagcccgcttcagc	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125797524G>A	ENST00000373642.1	+	1	719	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	227						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGATATCAGCGAAAGGCAAGC	0.512													False	0	True	9:125797524	0	A	125797524	G	A	125797524	3	1	88	1	0	0	0	0	1	0	0	0	6727	1059	37	1	681	1	GPR21	9	125797524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38696	125797524	15415907	10022	17734											
RABGAP1	23637	broad.mit.edu	37	chr9	125863974	125863974	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagagacgctcaagaaccagCtgagagaaatggagctagaa	12	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125863974C>A	ENST00000373647.4	+	25	3153	c.3019C>A	c.(3019-3021)Ctg>Atg	p.L1007M	RABGAP1_ENST00000373643.5_Missense_Mutation_p.L346M	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	1007					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CAAGAACCAGCTGAGAGAAAT	0.488													False	0	False	9:125863974	0	A	125863974	C	A	125863974	3	1	88	1	0	0	0	0	1	0	0	0	13043	796	28	3	3113	3	RABGAP1	9	125863974	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66450	125863974	15349457	10023	17735											
CRB2	286204	broad.mit.edu	37	chr9	126132468	126132468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgacactgtggcagGctatatctgcaggtgcccag	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132468G>A	ENST00000373631.3	+	7	1137	c.1136G>A	c.(1135-1137)gGc>gAc	p.G379D	CRB2_ENST00000373629.2_Missense_Mutation_p.G47D|CRB2_ENST00000359999.3_Missense_Mutation_p.G379D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	379	EGF-like 8; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ACTGTGGCAGGCTATATCTGC	0.627													False	0	False	9:126132468	0	A	126132468	G	A	126132468	3	1	88	1	0	0	0	0	1	0	0	0	3872	1203	42	2	1162	2	CRB2	9	126132468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268494	126132468	15080963	10024	17736											
CRB2	286204	broad.mit.edu	37	chr9	126132762	126132762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctgggaccttggccactcGcaatgacaccaaggaaagct	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132762G>T	ENST00000373631.3	+	7	1431	c.1430G>T	c.(1429-1431)cGc>cTc	p.R477L	CRB2_ENST00000373629.2_Missense_Mutation_p.R145L|CRB2_ENST00000359999.3_Missense_Mutation_p.R477L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	477	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TTGGCCACTCGCAATGACACC	0.617													False	0	False	9:126132762	0	T	126132762	G	T	126132762	3	4	88	1	0	0	0	0	1	0	0	0	3872	1087	38	3	1456	3	CRB2	9	126132762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294	126132762	15080669	10025	17737											
CRB2	286204	broad.mit.edu	37	chr9	126132862	126132862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttgtcctgagactgccGgacctggccctaaacgatgg	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132862G>A	ENST00000373631.3	+	7	1531	c.1530G>A	c.(1528-1530)ccG>ccA	p.P510P	CRB2_ENST00000373629.2_Silent_p.P178P|CRB2_ENST00000359999.3_Silent_p.P510P	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	510	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGAGACTGCCGGACCTGGCCC	0.612													False	0	False	9:126132862	0	A	126132862	G	A	126132862	2	1	88	1	0	0	0	0	0	0	0	1	3872	1103	39	1		1	CRB2	9	126132862	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100	126132862	15080569	10026	17738											
DENND1A	57706	broad.mit.edu	37	chr9	126202642	126202642	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggccagggtacacacctgTccaaagtggactgtgattgg	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126202642T>C	ENST00000373624.2	-	19	1686	c.1485A>G	c.(1483-1485)ggA>ggG	p.G495G	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Silent_p.G495G|DENND1A_ENST00000373618.1_Silent_p.G463G|DENND1A_ENST00000394219.3_Silent_p.G463G|DENND1A_ENST00000542603.1_Silent_p.G237G|DENND1A_ENST00000394215.2_Silent_p.G465G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	495						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TACACACCTGTCCAAAGTGGA	0.517													False	0	False	9:126202642	0	C	126202642	T	C	126202642	2	2	88	1	0	0	0	0	0	0	0	1	4456	1654	58	4		4	DENND1A	9	126202642	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69780	126202642	15010789	10027	17739											
DENND1A	57706	broad.mit.edu	37	chr9	126219702	126219702	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaattgagaagatctaatcGaccatcaataaactatagaa	7	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126219702G>A	ENST00000373624.2	-	15	1312	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000373620.3_Nonsense_Mutation_p.R371*|DENND1A_ENST00000373618.1_Nonsense_Mutation_p.R339*|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.R339*|DENND1A_ENST00000542603.1_Nonsense_Mutation_p.R113*|DENND1A_ENST00000394215.2_Nonsense_Mutation_p.R341*	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	371	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AGATCTAATCGACCATCAATA	0.428													False	0	False	9:126219702	0	A	126219702	G	A	126219702	4	1	88	1	0	0	0	0	0	1	0	0	4456	1066	37	1	2057	1	DENND1A	9	126219702	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17060	126219702	14993729	10028	17740											
PSMB7	5695	broad.mit.edu	37	chr9	127177699	127177699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcatacaccgacacagcCgccatcttcccaagaaagca	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127177699C>T	ENST00000536392.1	-	1	22	c.6G>A	c.(4-6)gcG>gcA	p.A2A	PSMB7_ENST00000259457.3_Silent_p.A2A			Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	2					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						CCGACACAGCCGCCATCTTCC	0.617											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:127177699	0	T	127177699	C	T	127177699	2	4	88	1	0	0	0	0	0	0	0	1	12758	639	23	1		1	PSMB7	9	127177699	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	957997	127177699	14035732	10029	17741											
NR5A1	2516	broad.mit.edu	37	chr9	127262888	127262888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgtctccagcttgaaGccattggcccgaatctgtgc	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127262888G>A	ENST00000373588.4	-	4	547	c.351C>T	c.(349-351)ggC>ggT	p.G117G		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	117					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						CCAGCTTGAAGCCATTGGCCC	0.672													False	0	False	9:127262888	0	A	127262888	G	A	127262888	2	1	88	1	0	0	0	0	0	0	0	1	10703	958	34	2		2	NR5A1	9	127262888	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85189	127262888	13950543	10030	17742											
NR6A1	2649	broad.mit.edu	37	chr9	127306128	127306128	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctccaggcatgccatcttCtctgatagctggaaggaaag	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127306128C>A	ENST00000487099.2	-	4	551	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	NR6A1_ENST00000416460.2_Nonsense_Mutation_p.E128*|NR6A1_ENST00000344523.4_Nonsense_Mutation_p.E132*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.E128*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	132					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						ATGCCATCTTCTCTGATAGCT	0.493													False	0	False	9:127306128	0	A	127306128	C	A	127306128	4	1	88	1	0	0	0	0	0	1	0	0	10705	922	32	3	1076	3	NR6A1	9	127306128	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43240	127306128	13907303	10031	17743											
OLFML2A	169611	broad.mit.edu	37	chr9	127549269	127549269	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aacaggtgtttggggacctgGaccaggtgaggatgacctcg	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127549269G>T	ENST00000373580.3	+	2	106	c.106G>T	c.(106-108)Gac>Tac	p.D36Y		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	36										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGGGGACCTGGACCAGGTGAG	0.647													False	0	False	9:127549269	0	T	127549269	G	T	127549269	3	4	88	1	0	0	0	0	1	0	0	0	10925	1174	41	3	112	3	OLFML2A	9	127549269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243141	127549269	13664162	10032	17744											
OLFML2A	169611	broad.mit.edu	37	chr9	127572492	127572492	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgcggcatcctgtatgCcgtggacacgtacaaccagc	13	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127572492C>A	ENST00000373580.3	+	8	1760	c.1760C>A	c.(1759-1761)gCc>gAc	p.A587D	OLFML2A_ENST00000288815.5_Missense_Mutation_p.A373D	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	587	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ATCCTGTATGCCGTGGACACG	0.657													False	0	False	9:127572492	0	A	127572492	C	A	127572492	3	1	88	1	0	0	0	0	1	0	0	0	10925	739	26	3	1790	3	OLFML2A	9	127572492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23223	127572492	13640939	10033	17745											
OLFML2A	169611	broad.mit.edu	37	chr9	127572610	127572610	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgcctacaccacccagatCgactacaaccccaaggagcg	7	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127572610C>T	ENST00000373580.3	+	8	1878	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	OLFML2A_ENST00000288815.5_Silent_p.I412I	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	626	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCACCCAGATCGACTACAACC	0.642													False	0	False	9:127572610	0	T	127572610	C	T	127572610	2	4	88	1	0	0	0	0	0	0	0	1	10925	874	31	1		1	OLFML2A	9	127572610	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	127572610	13640821	10034	17746											
RPL35	11224	broad.mit.edu	37	chr9	127620235	127620235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccgcagcgggtacagccGctccttccgctgctgcttct	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127620235G>A	ENST00000348462.3	-	4	382	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	RPL35_ENST00000373570.4_3'UTR	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	112					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GGGTACAGCCGCTCCTTCCGC	0.602													False	0	False	9:127620235	0	A	127620235	G	A	127620235	3	1	88	1	0	0	0	0	1	0	0	0	13663	1086	38	1	41	1	RPL35	9	127620235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47625	127620235	13593196	10035	17747											
ARPC5L	81873	broad.mit.edu	37	chr9	127639172	127639172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggccttagcagtaggaGgactaggctccattataaga	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127639172G>A	ENST00000353214.2	+	6	1667	c.415G>A	c.(415-417)Gga>Aga	p.G139R	ARPC5L_ENST00000259477.6_Missense_Mutation_p.G139R|ARPC5L_ENST00000465124.1_3'UTR			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	139					regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|lung(1)	3						AGCAGTAGGAGGACTAGGCTC	0.483													False	0	False	9:127639172	0	A	127639172	G	A	127639172	3	1	88	1	0	0	0	0	1	0	0	0	979	1001	35	2	429	2	ARPC5L	9	127639172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18937	127639172	13574259	10036	17748											
GOLGA1	2800	broad.mit.edu	37	chr9	127650629	127650630	+	Frame_Shift_Ins	INS	-	-	ATCTTCCGTTC													accatttggtgttcttcctgINScagttggaagctggaacaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127650629_127650630insATCTTCCGTTC	ENST00000373555.4	-	19	2140_2141	c.1807_1808insGAACGGAAGAT	c.(1807-1809)gcafs	p.A603fs		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	603						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGTTCTTCCTGCAGTTGGAAGC	0.535													False	0	False	9:127650629	0	ATCTTCCGTTC	127650630	-	ATCTTCCGTTC	127650629	7	5	88	1	0	1	1	0	0	0	0	0	6596	1319	46	0	515	0	GOLGA1	9	127650629	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	11457	127650629	13562802	10037	17749											
SCAI	286205	broad.mit.edu	37	chr9	127791943	127791943	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgatgctgctgctggaacttCcagagtttggtgtaaacatc	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127791943C>T	ENST00000336505.6	-	4	364	c.306G>A	c.(304-306)tgG>tgA	p.W102*	SCAI_ENST00000373549.4_Nonsense_Mutation_p.W125*	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion		Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GCTGGAACTTCCAGAGTTTGG	0.368													False	0	False	9:127791943	0	T	127791943	C	T	127791943	4	4	88	1	0	0	0	0	0	1	0	0	13949	856	30	2	1574	2	SCAI	9	127791943	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141314	127791943	13421488	10038	17750											
PPP6C	5537	broad.mit.edu	37	chr9	127912091	127912091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccacaacgatagcagtaaTtaggagcagaccatactgtc	8	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127912091T>G	ENST00000451402.1	-	8	1110	c.890A>C	c.(889-891)aAt>aCt	p.N297T	PPP6C_ENST00000415905.1_Missense_Mutation_p.N238T|PPP6C_ENST00000373547.4_Missense_Mutation_p.N260T|PPP6C_ENST00000373546.3_Missense_Mutation_p.N113T	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	260					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						ATAGCAGTAATTAGGAGCAGA	0.393													False	0	False	9:127912091	0	G	127912091	T	G	127912091	3	3	88	1	0	0	0	0	1	0	0	0	12481	1493	52	4	142	4	PPP6C	9	127912091	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	120148	127912091	13301340	10039	17751											
RABEPK	10244	broad.mit.edu	37	chr9	127990330	127990330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgatgacctccactgcaTtgatataagtaagcagggca	9	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127990330T>C	ENST00000373538.3	+	6	978	c.668T>C	c.(667-669)aTt>aCt	p.I223T	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.I172T|RABEPK_ENST00000394125.4_Missense_Mutation_p.I223T	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	223					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CTCCACTGCATTGATATAAGT	0.458													False	0	False	9:127990330	0	C	127990330	T	C	127990330	3	2	88	1	0	0	0	0	1	0	0	0	13042	1493	52	4	686	4	RABEPK	9	127990330	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78239	127990330	13223101	10040	17752											
HSPA5	3309	broad.mit.edu	37	chr9	128000926	128000926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcaccatacgctacagCttcatctgggtttatgccac	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128000926C>T	ENST00000324460.6	-	6	1380	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	393					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TACGCTACAGCTTCATCTGGG	0.473										Prostate(1;0.17)			False	0	False	9:128000926	0	T	128000926	C	T	128000926	3	4	88	1	0	0	0	0	1	0	0	0	7463	797	28	2	799	2	HSPA5	9	128000926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10596	128000926	13212505	10041	17753											
HSPA5	3309	broad.mit.edu	37	chr9	128001387	128001387	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctattgtctttcctgacatCtttgcccgtcttctttttgt	5	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128001387C>A	ENST00000324460.6	-	5	1032	c.829G>T	c.(829-831)Gat>Tat	p.D277Y		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	277					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	p.D277Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TTCCTGACATCTTTGCCCGTC	0.468										Prostate(1;0.17)			False	0	True	9:128001387	0	A	128001387	C	A	128001387	3	1	88	1	0	0	0	0	1	0	0	0	7463	913	32	3	1151	3	HSPA5	9	128001387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	461	128001387	13212044	10042	17754											
HSPA5	3309	broad.mit.edu	37	chr9	128001525	128001525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatggtgagaagagacacatCgaaggttccgccacccaggt	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128001525C>T	ENST00000324460.6	-	5	894	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	231					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	AGAGACACATCGAAGGTTCCG	0.488										Prostate(1;0.17)			False	0	False	9:128001525	0	T	128001525	C	T	128001525	3	4	88	1	0	0	0	0	1	0	0	0	7463	884	31	1	1289	1	HSPA5	9	128001525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138	128001525	13211906	10043	17755											
GAPVD1	26130	broad.mit.edu	37	chr9	128099755	128099755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccccagctggaaccggcGtccaggaaatgaagagcgag	14	11	0	3	rs138389331		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099755G>A	ENST00000470056.1	+	15	2922	c.2762G>A	c.(2761-2763)cGt>cAt	p.R921H	GAPVD1_ENST00000394104.2_Missense_Mutation_p.R921H|GAPVD1_ENST00000495955.1_Missense_Mutation_p.R921H|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R900H|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R895H|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R948H|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R900H|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R921H			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	921					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGGAACCGGCGTCCAGGAAAT	0.522													False	0	False	9:128099755	0	A	128099755	G	A	128099755	3	1	88	1	0	0	0	0	1	0	0	0	6282	1145	40	1	2901	1	GAPVD1	9	128099755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98230	128099755	13113676	10044	17756											
GAPVD1	26130	broad.mit.edu	37	chr9	128099772	128099772	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtccaggaaatgaagagCgagaactccctccagctgca	12	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099772C>T	ENST00000470056.1	+	15	2939	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.R927*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.R901*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.R954*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.R906*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.R927*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	927					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAATGAAGAGCGAGAACTCCC	0.537													False	0	False	9:128099772	0	T	128099772	C	T	128099772	4	4	88	1	0	0	0	0	0	1	0	0	6282	760	27	1	2918	1	GAPVD1	9	128099772	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17	128099772	13113659	10045	17757											
GAPVD1	26130	broad.mit.edu	37	chr9	128099865	128099865	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgagtaaggactcctcaagaGgagaggtatgggacataggc	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099865G>T	ENST00000470056.1	+	15	3032	c.2872G>T	c.(2872-2874)Gga>Tga	p.G958*	GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.G958*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.G937*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.G932*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.G985*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.G937*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.G958*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	958					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTCCTCAAGAGGAGAGGTATG	0.443													False	0	True	9:128099865	0	T	128099865	G	T	128099865	4	4	88	1	0	0	0	0	0	1	0	0	6282	1001	35	3	3011	3	GAPVD1	9	128099865	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93	128099865	13113566	10046	17758											
GAPVD1	26130	broad.mit.edu	37	chr9	128104578	128104578	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagattctcaacactcacaGgtttgtagacccatggactt	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128104578G>T	ENST00000394104.2	+	17	3206	c.3046G>T	c.(3046-3048)Gat>Tat	p.D1016Y	GAPVD1_ENST00000495955.1_Splice_Site_p.D1016Y|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000265956.4_Splice_Site_p.D990Y|GAPVD1_ENST00000394105.2_Splice_Site_p.D1043Y|GAPVD1_ENST00000312123.9_Splice_Site_p.D995Y|GAPVD1_ENST00000470056.1_Intron|GAPVD1_ENST00000297933.6_Splice_Site_p.D1016Y	NM_001282679.1	NP_001269608.1	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1016					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AACACTCACAGGTTTGTAGAC	0.403													False	0	False	9:128104578	0	T	128104578	G	T	128104578	5	4	88	1	0	0	0	0	0	0	1	0	6282	1014	35	3	3193	3	GAPVD1	9	128104578	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4713	128104578	13108853	10047	17759											
GAPVD1	26130	broad.mit.edu	37	chr9	128125011	128125011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagaattcattaaaaccatcGatgaccgaaagtgaccaaga	7	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128125011G>A	ENST00000470056.1	+	25	4448	c.4288G>A	c.(4288-4290)Gat>Aat	p.D1430N	GAPVD1_ENST00000394104.2_Missense_Mutation_p.D1475N|GAPVD1_ENST00000495955.1_Missense_Mutation_p.D1475N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D1409N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D1449N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D1484N|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D1436N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D1457N			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1475	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TAAAACCATCGATGACCGAAA	0.463													False	0	False	9:128125011	0	A	128125011	G	A	128125011	3	1	88	1	0	0	0	0	1	0	0	0	6282	1058	37	1	4552	1	GAPVD1	9	128125011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20433	128125011	13088420	10048	17760											
PBX3	5090	broad.mit.edu	37	chr9	128723010	128723010	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcaggtacaagaagaacatTggcaagtttcaggaagaagc	11	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128723010T>A	ENST00000373487.4	+	7	1034	c.954T>A	c.(952-954)atT>atA	p.I318I	PBX3_ENST00000373489.5_Silent_p.I297I|PBX3_ENST00000373483.2_Silent_p.I116I|PBX3_ENST00000447726.2_Silent_p.I222I|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_Silent_p.I297I			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	297					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AGAAGAACATTGGCAAGTTTC	0.483													False	0	False	9:128723010	0	A	128723010	T	A	128723010	2	1	88	1	0	0	0	0	0	0	0	1	11562	1800	63	5		5	PBX3	9	128723010	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	597999	128723010	12490421	10049	17761											
PBX3	5090	broad.mit.edu	37	chr9	128725346	128725346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggctacagtgatggccttgGaggaaattcactgtacagtc	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128725346G>A	ENST00000373487.4	+	9	1321	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	PBX3_ENST00000373489.5_Missense_Mutation_p.G393E|PBX3_ENST00000373483.2_Missense_Mutation_p.G212E|PBX3_ENST00000447726.2_Missense_Mutation_p.G318E|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_3'UTR			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	393					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GATGGCCTTGGAGGAAATTCA	0.403													False	0	False	9:128725346	0	A	128725346	G	A	128725346	3	1	88	1	0	0	0	0	1	0	0	0	11562	1174	41	2	1208	2	PBX3	9	128725346	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2336	128725346	12488085	10050	17762											
LMX1B	4010	broad.mit.edu	37	chr9	129455510	129455510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgacgggaaggacccgCggaggcccaagcgaccccgg	18	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129455510C>T	ENST00000355497.5	+	4	656	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	LMX1B_ENST00000526117.1_Missense_Mutation_p.R217W|LMX1B_ENST00000561065.1_Missense_Mutation_p.R194W|LMX1B_ENST00000373474.4_Missense_Mutation_p.R217W|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194W	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	194					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GAAGGACCCGCGGAGGCCCAA	0.652									Nail-Patella Syndrome				False	0	False	9:129455510	0	T	129455510	C	T	129455510	3	4	88	1	0	0	0	0	1	0	0	0	8915	759	27	1	663	1	LMX1B	9	129455510	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	730164	129455510	11757921	10051	17763											
LMX1B	4010	broad.mit.edu	37	chr9	129458638	129458638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctcagcgactgcttcCtcggctcctcagacgtgggc	11	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129458638C>T	ENST00000355497.5	+	8	1136	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	LMX1B_ENST00000526117.1_Missense_Mutation_p.L366F|LMX1B_ENST00000561065.1_Missense_Mutation_p.L354F|LMX1B_ENST00000373474.4_Missense_Mutation_p.L373F|LMX1B_ENST00000425646.2_Missense_Mutation_p.L343F	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	350					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CGACTGCTTCCTCGGCTCCTC	0.627									Nail-Patella Syndrome				False	0	False	9:129458638	0	T	129458638	C	T	129458638	3	4	88	1	0	0	0	0	1	0	0	0	8915	681	24	2	1180	2	LMX1B	9	129458638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3128	129458638	11754793	10052	17764											
LMX1B	4010	broad.mit.edu	37	chr9	129458652	129458652	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcctcggctcctcagaCgtgggctccctgcaggcccg	12	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129458652C>T	ENST00000355497.5	+	8	1150	c.1143C>T	c.(1141-1143)gaC>gaT	p.D381D	LMX1B_ENST00000526117.1_Silent_p.D370D|LMX1B_ENST00000561065.1_Silent_p.D358D|LMX1B_ENST00000373474.4_Silent_p.D377D|LMX1B_ENST00000425646.2_Silent_p.D347D	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	354					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCTCCTCAGACGTGGGCTCCC	0.637									Nail-Patella Syndrome				False	0	False	9:129458652	0	T	129458652	C	T	129458652	2	4	88	1	0	0	0	0	0	0	0	1	8915	535	19	1		1	LMX1B	9	129458652	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	129458652	11754779	10053	17765											
ZBTB34	403341	broad.mit.edu	37	chr9	129642452	129642452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagctcctccctgggtgaCgatgggtaccacaccgagat	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129642452C>T	ENST00000319119.4	+	2	859	c.774C>T	c.(772-774)gaC>gaT	p.D258D	ZBTB34_ENST00000373452.2_Silent_p.D254D	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D258D(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCTGGGTGACGATGGGTACC	0.557													False	0	False	9:129642452	0	T	129642452	C	T	129642452	2	4	88	1	0	0	0	0	0	0	0	1	17620	535	19	1		1	ZBTB34	9	129642452	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	183800	129642452	11570979	10054	17766											
RALGPS1	9649	broad.mit.edu	37	chr9	129831557	129831557	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaaattggactacctgAtgtcgaaagaagataattac	9	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129831557A>C	ENST00000259351.5	+	8	799	c.532A>C	c.(532-534)Atg>Ctg	p.M178L	RALGPS1_ENST00000424082.2_Missense_Mutation_p.M178L|RALGPS1_ENST00000394022.3_Missense_Mutation_p.M178L|RALGPS1_ENST00000373434.1_Missense_Mutation_p.M178L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.M178L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	178	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGACTACCTGATGTCGAAAGA	0.363													False	0	False	9:129831557	0	C	129831557	A	C	129831557	3	2	88	1	0	0	0	0	1	0	0	0	13096	333	12	4	558	4	RALGPS1	9	129831557	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	189105	129831557	11381874	10055	17767											
RALGPS1	9649	broad.mit.edu	37	chr9	129958828	129958828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaaggcacctactggaCgacagtgtcctagagtcccg	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129958828C>T	ENST00000259351.5	+	13	1380	c.1113C>T	c.(1111-1113)gaC>gaT	p.D371D	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	371					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTACTGGACGACAGTGTCC	0.537													False	0	False	9:129958828	0	T	129958828	C	T	129958828	2	4	88	1	0	0	0	0	0	0	0	1	13096	535	19	1		1	RALGPS1	9	129958828	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127271	129958828	11254603	10056	17768											
RALGPS1	9649	broad.mit.edu	37	chr9	129961313	129961313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtagtgagagctcagaGtttagtgaagagatgtcttc	14	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129961313G>A	ENST00000259351.5	+	14	1482	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	405					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGAGCTCAGAGTTTAGTGAAG	0.597											OREG0019502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	9:129961313	0	A	129961313	G	A	129961313	2	1	88	1	0	0	0	0	0	0	0	1	13096	1020	36	2		2	RALGPS1	9	129961313	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2485	129961313	11252118	10057	17769											
RALGPS1	9649	broad.mit.edu	37	chr9	129975289	129975289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagctgcccgatgaccccGagcacccagatatcttccag	9	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129975289G>A	ENST00000259351.5	+	17	1780	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	RALGPS1_ENST00000424082.2_Missense_Mutation_p.E463K|RALGPS1_ENST00000373434.1_Missense_Mutation_p.E455K	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	505	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CGATGACCCCGAGCACCCAGA	0.572													False	0	True	9:129975289	0	A	129975289	G	A	129975289	3	1	88	1	0	0	0	0	1	0	0	0	13096	1059	37	1	1575	1	RALGPS1	9	129975289	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13976	129975289	11238142	10058	17770											
SLC2A8	29988	broad.mit.edu	37	chr9	130167730	130167730	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggggcccatcccctgGctcctcatgtcagagatctt	12	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130167730G>A	ENST00000373371.3	+	9	1271	c.1182G>A	c.(1180-1182)tgG>tgA	p.W394*	SLC2A8_ENST00000373352.1_Nonsense_Mutation_p.W131*|SLC2A8_ENST00000373360.3_Intron	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	394						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						CCATCCCCTGGCTCCTCATGT	0.627													False	0	False	9:130167730	0	A	130167730	G	A	130167730	4	1	88	1	0	0	0	0	0	1	0	0	14631	1212	42	2	1216	2	SLC2A8	9	130167730	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192441	130167730	11045701	10059	17771											
SLC2A8	29988	broad.mit.edu	37	chr9	130169397	130169397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctctctgcaggaggtcCtcaggccctatggagccttc	10	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130169397C>T	ENST00000373371.3	+	10	1392	c.1303C>T	c.(1303-1305)Ctc>Ttc	p.L435F	SLC2A8_ENST00000373352.1_Missense_Mutation_p.L172F|SLC2A8_ENST00000373360.3_Missense_Mutation_p.P386L	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	435						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GCAGGAGGTCCTCAGGCCCTA	0.567													False	0	False	9:130169397	0	T	130169397	C	T	130169397	3	4	88	1	0	0	0	0	1	0	0	0	14631	681	24	2	1341	2	SLC2A8	9	130169397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1667	130169397	11044034	10060	17772											
ZNF79	7633	broad.mit.edu	37	chr9	130206888	130206888	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaattcataccggagagaaGccctacgaatgcagcgactg	11	10	1	2	rs148184910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130206888G>T	ENST00000342483.5	+	5	1315	c.909G>T	c.(907-909)aaG>aaT	p.K303N	ZNF79_ENST00000543471.1_Missense_Mutation_p.K279N	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCGGAGAGAAGCCCTACGAAT	0.557													False	0	True	9:130206888	0	T	130206888	G	T	130206888	3	4	88	1	0	0	0	0	1	0	0	0	18243	962	34	3	927	3	ZNF79	9	130206888	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37491	130206888	11006543	10061	17773											
LRSAM1	90678	broad.mit.edu	37	chr9	130230041	130230041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgagccttgacgcctcggCcatggtctacccgccgcggg	14	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130230041C>A	ENST00000323301.4	+	9	1155	c.551C>A	c.(550-552)gCc>gAc	p.A184D	LRSAM1_ENST00000373324.4_Missense_Mutation_p.A184D|LRSAM1_ENST00000300417.6_Missense_Mutation_p.A184D|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A184D	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	184					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GACGCCTCGGCCATGGTCTAC	0.582													False	0	False	9:130230041	0	A	130230041	C	A	130230041	3	1	88	1	0	0	0	0	1	0	0	0	9105	739	26	3	581	3	LRSAM1	9	130230041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23153	130230041	10983390	10062	17774											
LRSAM1	90678	broad.mit.edu	37	chr9	130251727	130251727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtctgtgttgcagagcgCgatgcagaaggctgcgttcg	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130251727C>T	ENST00000323301.4	+	18	1956	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	LRSAM1_ENST00000373324.4_Missense_Mutation_p.A451V|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000300417.6_Missense_Mutation_p.A451V|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A451V	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	451					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TTGCAGAGCGCGATGCAGAAG	0.607													False	0	False	9:130251727	0	T	130251727	C	T	130251727	3	4	88	1	0	0	0	0	1	0	0	0	9105	768	27	1	1418	1	LRSAM1	9	130251727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21686	130251727	10961704	10063	17775											
LRSAM1	90678	broad.mit.edu	37	chr9	130251746	130251746	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgatgcagaaggctgcgttCgaggcactccaggtgaagaa	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130251746C>T	ENST00000323301.4	+	18	1975	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	LRSAM1_ENST00000373324.4_Silent_p.F457F|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000300417.6_Silent_p.F457F|LRSAM1_ENST00000373322.1_Silent_p.F457F	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	457					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	p.F457F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGGCTGCGTTCGAGGCACTCC	0.612													False	0	False	9:130251746	0	T	130251746	C	T	130251746	2	4	88	1	0	0	0	0	0	0	0	1	9105	883	31	1		1	LRSAM1	9	130251746	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	130251746	10961685	10064	17776											
FAM129B	64855	broad.mit.edu	37	chr9	130269379	130269379	+	Silent	SNP	C	C	T													gctggtggggggctctcaggCcgcagaccttgggccagcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269379C>T	ENST00000373312.3	-	14	2199	c.1986G>A	c.(1984-1986)cgG>cgA	p.R662R	FAM129B_ENST00000373314.3_Silent_p.R649R	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	662							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCTCTCAGGCCGCAGACCTT	0.726													False	0	False	9:130269379	0	T	130269379	C	T	130269379	2	4	88	1	0	0	0	0	0	0	0	1	5473	726	26	2		2	FAM129B	9	130269379	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17633	130269379	10944052	10065	17777	209	2									
FAM129B	64855	broad.mit.edu	37	chr9	130269380	130269380	+	Missense_Mutation	SNP	C	C	T													ctggtggggggctctcaggcCgcagaccttgggccagcagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269380C>T	ENST00000373312.3	-	14	2198	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	FAM129B_ENST00000373314.3_Missense_Mutation_p.R649Q	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	662							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCTCTCAGGCCGCAGACCTTG	0.731													False	0	False	9:130269380	0	T	130269380	C	T	130269380	3	4	88	1	0	0	0	0	1	0	0	0	5473	652	23	1	259	1	FAM129B	9	130269380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	130269380	10944051	10066	17778	209	2									
FAM129B	64855	broad.mit.edu	37	chr9	130269465	130269465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggctagcctcaaaggGcagccccacctcctcatcct	8	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269465G>A	ENST00000373312.3	-	14	2113	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S	FAM129B_ENST00000373314.3_Missense_Mutation_p.P621S|FAM129B_ENST00000468379.1_5'UTR	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	634							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCCTCAAAGGGCAGCCCCACC	0.687													False	0	True	9:130269465	0	A	130269465	G	A	130269465	3	1	88	1	0	0	0	0	1	0	0	0	5473	1203	42	2	344	2	FAM129B	9	130269465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85	130269465	10943966	10067	17779											
FAM129B	64855	broad.mit.edu	37	chr9	130270389	130270389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgacttgcaggtaggggCcagcttcttgagcaggaacg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130270389C>T	ENST00000373312.3	-	12	1738	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	FAM129B_ENST00000373314.3_Missense_Mutation_p.A496T|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	509							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CAGGTAGGGGCCAGCTTCTTG	0.622													False	0	True	9:130270389	0	T	130270389	C	T	130270389	3	4	88	1	0	0	0	0	1	0	0	0	5473	739	26	2	727	2	FAM129B	9	130270389	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	924	130270389	10943042	10068	17780											
FAM129B	64855	broad.mit.edu	37	chr9	130270429	130270429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgctgatctgcagcagCgcctcccggaagaacctctt	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130270429C>T	ENST00000373312.3	-	12	1698	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A	FAM129B_ENST00000373314.3_Silent_p.A482A|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	495							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TCTGCAGCAGCGCCTCCCGGA	0.617													False	0	False	9:130270429	0	T	130270429	C	T	130270429	2	4	88	1	0	0	0	0	0	0	0	1	5473	755	27	1		1	FAM129B	9	130270429	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	130270429	10943002	10069	17781											
STXBP1	6812	broad.mit.edu	37	chr9	130425503	130425503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctattccttggactctgCtgactctttccaaagcttct	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130425503C>T	ENST00000373302.3	+	7	588	c.449C>T	c.(448-450)gCt>gTt	p.A150V	STXBP1_ENST00000373299.1_Missense_Mutation_p.A150V	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	150					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TTGGACTCTGCTGACTCTTTC	0.478													False	0	False	9:130425503	0	T	130425503	C	T	130425503	3	4	88	1	0	0	0	0	1	0	0	0	15434	797	28	2	475	2	STXBP1	9	130425503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155074	130425503	10787928	10070	17782											
STXBP1	6812	broad.mit.edu	37	chr9	130425614	130425614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaccctgaaggagtaccCggctgtgcggtatcgggggt	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130425614C>T	ENST00000373302.3	+	7	699	c.560C>T	c.(559-561)cCg>cTg	p.P187L	STXBP1_ENST00000373299.1_Missense_Mutation_p.P187L	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	187					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AAGGAGTACCCGGCTGTGCGG	0.612													False	0	True	9:130425614	0	T	130425614	C	T	130425614	3	4	88	1	0	0	0	0	1	0	0	0	15434	652	23	1	586	1	STXBP1	9	130425614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111	130425614	10787817	10071	17783											
STXBP1	6812	broad.mit.edu	37	chr9	130430387	130430387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcggcatcggggaggcaCgggtgaaggaggtgctcctg	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130430387C>T	ENST00000373302.3	+	10	962	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	STXBP1_ENST00000373299.1_Missense_Mutation_p.R275W	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	275					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CGGGGAGGCACGGGTGAAGGA	0.592													False	0	True	9:130430387	0	T	130430387	C	T	130430387	3	4	88	1	0	0	0	0	1	0	0	0	15434	527	19	1	861	1	STXBP1	9	130430387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4773	130430387	10783044	10072	17784											
C9orf117	286207	broad.mit.edu	37	chr9	130474155	130474155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggacaccaaggaggcCgaggagctgcgcctcctgct	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130474155C>T	ENST00000373295.2	+	5	952	c.912C>T	c.(910-912)gcC>gcT	p.A304A		NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	304										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CCAAGGAGGCCGAGGAGCTGC	0.642													False	0	False	9:130474155	0	T	130474155	C	T	130474155	2	4	88	1	0	0	0	0	0	0	0	1	2471	639	23	1		1	C9orf117	9	130474155	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43768	130474155	10739276	10073	17785											
PTRH1	138428	broad.mit.edu	37	chr9	130477948	130477948	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcactccgacaccgccccCtgacgtcatcaccccgcagc	6	21	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130477948C>A	ENST00000419060.1	-	0	1427				C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000423807.1_De_novo_Start_OutOfFrame			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)						translation		aminoacyl-tRNA hydrolase activity|protein binding			NS(1)	1						ACACCGCCCCCTGACGTCATC	0.647													False	0	True	9:130477948	0	A	130477948	C	A	130477948	1	1	88	1	0	0	0	0	0	0	0	0	12895	696	24	3		3	PTRH1	9	130477948	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3793	130477948	10735483	10074	17786											
PTRH1	138428	broad.mit.edu	37	chr9	130477960	130477960	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgccccctgacgtcatcaCcccgcagcagccaatcgtgt	8	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130477960C>T	ENST00000419060.1	-	0	1415				C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000423807.1_De_novo_Start_InFrame			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)						translation		aminoacyl-tRNA hydrolase activity|protein binding			NS(1)	1						GACGTCATCACCCCGCAGCAG	0.667													False	0	True	9:130477960	0	T	130477960	C	T	130477960	1	4	88	1	0	0	0	0	0	0	0	0	12895	522	18	2		2	PTRH1	9	130477960	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	130477960	10735471	10075	17787											
TTC16	158248	broad.mit.edu	37	chr9	130479252	130479252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagcatctgtgatgtaaaaCcaaaggtcacagggttaaca	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130479252C>A	ENST00000373289.3	+	2	228	c.148C>A	c.(148-150)Cca>Aca	p.P50T	PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	50							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGATGTAAAACCAAAGGTCAC	0.532													False	0	True	9:130479252	0	A	130479252	C	A	130479252	3	1	88	1	0	0	0	0	1	0	0	0	16767	507	18	3	154	3	TTC16	9	130479252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1292	130479252	10734179	10076	17788											
TTC16	158248	broad.mit.edu	37	chr9	130485513	130485513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaggcgcgccaagatgCggggatcctggctgtgcagg	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130485513C>T	ENST00000373289.3	+	7	853	c.773C>T	c.(772-774)gCg>gTg	p.A258V	PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.A82V|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	258							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CGCCAAGATGCGGGGATCCTG	0.647													False	0	True	9:130485513	0	T	130485513	C	T	130485513	3	4	88	1	0	0	0	0	1	0	0	0	16767	768	27	1	799	1	TTC16	9	130485513	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6261	130485513	10727918	10077	17789											
SH2D3C	10044	broad.mit.edu	37	chr9	130501057	130501057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcggacagcaggttccaGcttgtgggacagggcagtga	18	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130501057G>T	ENST00000314830.8	-	12	2664	c.2551C>A	c.(2551-2553)Ctg>Atg	p.L851M	SH2D3C_ENST00000373276.3_Missense_Mutation_p.L783M|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L693M|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L694M|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L691M|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L497M	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	851	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCAGGTTCCAGCTTGTGGGAC	0.637													False	0	False	9:130501057	0	T	130501057	G	T	130501057	3	4	88	1	0	0	0	0	1	0	0	0	14315	962	34	3	35	3	SH2D3C	9	130501057	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15544	130501057	10712374	10078	17790											
SH2D3C	10044	broad.mit.edu	37	chr9	130511771	130511771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggtcaaagctctcctgCtcaaacaggtactggatgtg	11	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130511771C>T	ENST00000314830.8	-	5	971	c.858G>A	c.(856-858)gaG>gaA	p.E286E	SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373276.3_Silent_p.E218E|SH2D3C_ENST00000420366.1_Silent_p.E128E|SH2D3C_ENST00000373277.4_Silent_p.E129E|SH2D3C_ENST00000373274.3_Silent_p.E126E|SH2D3C_ENST00000429553.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	286	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTCTCCTGCTCAAACAGGT	0.592													False	0	False	9:130511771	0	T	130511771	C	T	130511771	2	4	88	1	0	0	0	0	0	0	0	1	14315	796	28	2		2	SH2D3C	9	130511771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10714	130511771	10701660	10079	17791											
SH2D3C	10044	broad.mit.edu	37	chr9	130536596	130536596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgggcataggctgggggaCtcttgggcaccgtcaccatg	16	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130536596C>A	ENST00000314830.8	-	2	301	c.188G>T	c.(187-189)aGt>aTt	p.S63I		NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	63					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCTGGGGGACTCTTGGGCAC	0.582													False	0	False	9:130536596	0	A	130536596	C	A	130536596	3	1	88	1	0	0	0	0	1	0	0	0	14315	565	20	3	2571	3	SH2D3C	9	130536596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24825	130536596	10676835	10080	17792											
CDK9	1025	broad.mit.edu	37	chr9	130551610	130551610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgctggaccctgcccagCgcatcgacagcgatgacgcc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130551610C>T	ENST00000373265.2	+	7	1258	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	CDK9_ENST00000373264.4_Missense_Mutation_p.R303C			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	303					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.R303C(1)		lung(1)	1						CCCTGCCCAGCGCATCGACAG	0.617													False	0	False	9:130551610	0	T	130551610	C	T	130551610	3	4	88	1	0	0	0	0	1	0	0	0	3174	768	27	1	933	1	CDK9	9	130551610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15014	130551610	10661821	10081	17793											
FPGS	2356	broad.mit.edu	37	chr9	130575653	130575653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaccccacacctgcagtGccagctccctcgtcttcagc	6	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130575653G>A	ENST00000373225.3	+	15	1593	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.A486T|FPGS_ENST00000373247.2_Missense_Mutation_p.A512T|FPGS_ENST00000460181.1_3'UTR	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	512					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	CACCTGCAGTGCCAGCTCCCT	0.657													False	0	False	9:130575653	0	A	130575653	G	A	130575653	3	1	88	1	0	0	0	0	1	0	0	0	6078	1319	46	2	1592	2	FPGS	9	130575653	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24043	130575653	10637778	10082	17794											
FPGS	2356	broad.mit.edu	37	chr9	130575822	130575822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccatccatgtgctagtcaCtggcagcctgcacctggtgg	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130575822C>T	ENST00000373225.3	+	15	1762	c.1553C>T	c.(1552-1554)aCt>aTt	p.T518I	FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.T542I|FPGS_ENST00000373247.2_Missense_Mutation_p.T568I|FPGS_ENST00000460181.1_3'UTR	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	568					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GTGCTAGTCACTGGCAGCCTG	0.647													False	0	False	9:130575822	0	T	130575822	C	T	130575822	3	4	88	1	0	0	0	0	1	0	0	0	6078	565	20	2	1761	2	FPGS	9	130575822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169	130575822	10637609	10083	17795											
ENG	2022	broad.mit.edu	37	chr9	130581937	130581937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgacaggatattgaccacCgcctgcggggataaagccag	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130581937C>T	ENST00000344849.3	-	10	1555	c.1275G>A	c.(1273-1275)gcG>gcA	p.A425A	RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000373203.4_Silent_p.A425A|ENG_ENST00000480266.1_Intron			P17813	EGLN_HUMAN	endoglin	425	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TATTGACCACCGCCTGCGGGG	0.607									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				False	0	False	9:130581937	0	T	130581937	C	T	130581937	2	4	88	1	0	0	0	0	0	0	0	1	5149	639	23	1		1	ENG	9	130581937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6115	130581937	10631494	10084	17796											
ENG	2022	broad.mit.edu	37	chr9	130587516	130587516	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcgcacaactcacccagatCtgcatgttgtggttggcgtc	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130587516C>T	ENST00000344849.3	-	6	1090	c.810G>A	c.(808-810)caG>caA	p.Q270Q	ENG_ENST00000373203.4_Silent_p.Q270Q|ENG_ENST00000480266.1_5'UTR			P17813	EGLN_HUMAN	endoglin	270					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TCACCCAGATCTGCATGTTGT	0.602									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				False	0	False	9:130587516	0	T	130587516	C	T	130587516	2	4	88	1	0	0	0	0	0	0	0	1	5149	912	32	2		2	ENG	9	130587516	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5579	130587516	10625915	10085	17797											
AK1	203	broad.mit.edu	37	chr9	130635041	130635041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagcctgagctgacctcGgaccgcaggaggtccccggt	15	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130635041G>A	ENST00000373176.1	-	4	287	c.135C>T	c.(133-135)tcC>tcT	p.S45S	RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000223836.10_Silent_p.S61S|AK1_ENST00000373156.1_Silent_p.S45S	NM_000476.2	NP_000467.1	P00568	KAD1_HUMAN	adenylate kinase 1	45					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding			endometrium(1)|prostate(1)	2						AGCTGACCTCGGACCGCAGGA	0.637													False	0	False	9:130635041	0	A	130635041	G	A	130635041	2	1	88	1	0	0	0	0	0	0	0	1	439	1103	39	1		1	AK1	9	130635041	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47525	130635041	10578390	10086	17798											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130653219	130653219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgggtgcatcattcatgCggattgtacactcagcccgc	12	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130653219C>T	ENST00000373146.1	-	5	580	c.401G>A	c.(400-402)cGc>cAc	p.R134H	ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R100H|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R134H|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R100H			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	134					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCATTCATGCGGATTGTACA	0.612													False	0	False	9:130653219	0	T	130653219	C	T	130653219	3	4	88	1	0	0	0	0	1	0	0	0	15310	768	27	1	612	1	ST6GALNAC6	9	130653219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18178	130653219	10560212	10087	17799											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130656830	130656830	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acatagccgtcagtgatgctCcacttcttgaggttgacagg	11	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130656830C>T	ENST00000373146.1	-	4	437	c.258G>A	c.(256-258)tgG>tgA	p.W86*	ST6GALNAC6_ENST00000373142.1_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000373141.1_Nonsense_Mutation_p.W52*|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Nonsense_Mutation_p.W86*|ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.G22E|ST6GALNAC6_ENST00000373144.3_Nonsense_Mutation_p.W52*			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	86					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGTGATGCTCCACTTCTTGA	0.592													False	0	False	9:130656830	0	T	130656830	C	T	130656830	4	4	88	1	0	0	0	0	0	1	0	0	15310	856	30	2	759	2	ST6GALNAC6	9	130656830	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3611	130656830	10556601	10088	17800											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130674853	130674853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgggcgcctggttcatgCggaacacgcactcggcactg	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130674853C>T	ENST00000335791.5	-	4	580	c.305G>A	c.(304-306)cGc>cAc	p.R102H	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R18H	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	102					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CTGGTTCATGCGGAACACGCA	0.677													False	0	False	9:130674853	0	T	130674853	C	T	130674853	3	4	88	1	0	0	0	0	1	0	0	0	15308	768	27	1	615	1	ST6GALNAC4	9	130674853	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18023	130674853	10538578	10089	17801											
PIP5KL1	138429	broad.mit.edu	37	chr9	130687515	130687515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtatccagttccatctggCggaggaaccagctccgctgg	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130687515C>T	ENST00000388747.4	-	9	832	c.788G>A	c.(787-789)cGc>cAc	p.R263H	PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_Missense_Mutation_p.R60H	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	263	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						TTCCATCTGGCGGAGGAACCA	0.637													False	0	False	9:130687515	0	T	130687515	C	T	130687515	3	4	88	1	0	0	0	0	1	0	0	0	12011	768	27	1	404	1	PIP5KL1	9	130687515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12662	130687515	10525916	10090	17802											
DPM2	8818	broad.mit.edu	37	chr9	130698902	130698902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggctcggggcaggaaataCttgtggatgacatgctgact	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130698902C>T	ENST00000314392.8	-	3	789	c.126G>A	c.(124-126)aaG>aaA	p.K42K	RP11-203J24.8_ENST00000592240.1_RNA|DPM2_ENST00000373110.4_Silent_p.K42K	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	42					C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|preassembly of GPI anchor in ER membrane|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to endoplasmic reticulum membrane	protein binding			lung(1)	1						GCAGGAAATACTTGTGGATGA	0.587													False	0	False	9:130698902	0	T	130698902	C	T	130698902	2	4	88	1	0	0	0	0	0	0	0	1	4755	564	20	2		2	DPM2	9	130698902	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11387	130698902	10514529	10091	17803											
FAM102A	399665	broad.mit.edu	37	chr9	130707059	130707059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcccagcacggctcaccctCggtgttgctgccatctgtga	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130707059C>T	ENST00000373095.1	-	9	1411	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_Missense_Mutation_p.E204K	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	346										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GGCTCACCCTCGGTGTTGCTG	0.662													False	0	False	9:130707059	0	T	130707059	C	T	130707059	3	4	88	1	0	0	0	0	1	0	0	0	5418	893	31	1	130	1	FAM102A	9	130707059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8157	130707059	10506372	10092	17804											
NAIF1	203245	broad.mit.edu	37	chr9	130828911	130828911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggctgcggtggccgagGgtccgagggccacagggtgg	21	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130828911G>A	ENST00000373078.4	-	1	689	c.470C>T	c.(469-471)cCc>cTc	p.P157L		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	157					apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGTGGCCGAGGGTCCGAGGGC	0.652													False	0	True	9:130828911	0	A	130828911	G	A	130828911	3	1	88	1	0	0	0	0	1	0	0	0	10213	1232	43	2	521	2	NAIF1	9	130828911	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121852	130828911	10384520	10093	17805											
NAIF1	203245	broad.mit.edu	37	chr9	130829260	130829260	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcactcttggcggccaGgggtaccccggcgttgaagt	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130829260G>T	ENST00000373078.4	-	1	340	c.121C>A	c.(121-123)Ctg>Atg	p.L41M		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	41	Required for nuclear localization and apoptosis-inducing activity.				apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGGCGGCCAGGGGTACCCCG	0.607													False	0	True	9:130829260	0	T	130829260	G	T	130829260	3	4	88	1	0	0	0	0	1	0	0	0	10213	991	35	3	870	3	NAIF1	9	130829260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	349	130829260	10384171	10094	17806											
NAIF1	203245	broad.mit.edu	37	chr9	130829277	130829277	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggtaccccggcgttgAagtggttcaccagcaggtgc	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130829277A>G	ENST00000373078.4	-	1	323	c.104T>C	c.(103-105)tTc>tCc	p.F35S		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	35	Required for nuclear localization and apoptosis-inducing activity.				apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCGGCGTTGAAGTGGTTCAC	0.627													False	0	False	9:130829277	0	G	130829277	A	G	130829277	3	3	88	1	0	0	0	0	1	0	0	0	10213	246	9	4	887	4	NAIF1	9	130829277	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17	130829277	10384154	10095	17807											
SLC25A25	114789	broad.mit.edu	37	chr9	130865959	130865959	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgtgccatctttcctcacaGatctttgatgtgggtgagaa	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130865959G>A	ENST00000373066.5	+	6	989		c.e6-1		SLC25A25_ENST00000373069.5_Splice_Site|SLC25A25_ENST00000373064.5_Splice_Site|SLC25A25_ENST00000432073.2_Splice_Site|SLC25A25_ENST00000373068.2_Splice_Site|SLC25A25_ENST00000433501.1_Splice_Site	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25						transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TTTCCTCACAGATCTTTGATG	0.607													False	0	False	9:130865959	0	A	130865959	G	A	130865959	5	1	88	1	0	0	0	0	0	0	1	0	14568	956	33	2	992	2	SLC25A25	9	130865959	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36682	130865959	10347472	10096	17808											
CIZ1	25792	broad.mit.edu	37	chr9	130942771	130942771	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagtgcgtttttccttggcGatgtcctctgggcagggcgg	17	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130942771G>A	ENST00000538431.1	-	7	961	c.714C>T	c.(712-714)atC>atT	p.I238I	CIZ1_ENST00000541172.1_Silent_p.I137I|CIZ1_ENST00000277465.4_Silent_p.I238I|CIZ1_ENST00000372948.3_Silent_p.I238I|CIZ1_ENST00000372938.5_Silent_p.I238I|CIZ1_ENST00000393608.1_Silent_p.I238I|CIZ1_ENST00000325721.8_Silent_p.I209I|CIZ1_ENST00000372954.1_Silent_p.I214I|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000357558.5_Silent_p.I238I	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	238						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TTTCCTTGGCGATGTCCTCTG	0.547													False	0	False	9:130942771	0	A	130942771	G	A	130942771	2	1	88	1	0	0	0	0	0	0	0	1	3464	1048	37	1		1	CIZ1	9	130942771	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76812	130942771	10270660	10097	17809											
CIZ1	25792	broad.mit.edu	37	chr9	130947959	130947959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggactggcgagtggcctggGgaaagaactgttgcaaattt	15	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130947959G>T	ENST00000538431.1	-	5	702	c.455C>A	c.(454-456)cCc>cAc	p.P152H	CIZ1_ENST00000541172.1_Missense_Mutation_p.P51H|CIZ1_ENST00000277465.4_Missense_Mutation_p.P152H|CIZ1_ENST00000372948.3_Missense_Mutation_p.P152H|CIZ1_ENST00000372938.5_Missense_Mutation_p.P152H|CIZ1_ENST00000393608.1_Missense_Mutation_p.P152H|CIZ1_ENST00000325721.8_Missense_Mutation_p.P128H|CIZ1_ENST00000372954.1_Missense_Mutation_p.P128H|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000357558.5_Missense_Mutation_p.P152H	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	152						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGTGGCCTGGGGAAAGAACTG	0.612													False	0	True	9:130947959	0	T	130947959	G	T	130947959	3	4	88	1	0	0	0	0	1	0	0	0	3464	1232	43	3	2293	3	CIZ1	9	130947959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5188	130947959	10265472	10098	17810											
DNM1	1759	broad.mit.edu	37	chr9	130984801	130984801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggctcaggagatcagatcGacacctacgaactgtcaggg	13	10	3	2	rs148695604		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130984801G>A	ENST00000341179.7	+	8	1146	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	DNM1_ENST00000486160.1_Missense_Mutation_p.D352N|DNM1_ENST00000372923.3_Missense_Mutation_p.D352N|DNM1_ENST00000393594.3_Missense_Mutation_p.D352N|DNM1_ENST00000475805.1_Missense_Mutation_p.D352N	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	352					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGATCAGATCGACACCTACGA	0.602													False	0	False	9:130984801	0	A	130984801	G	A	130984801	3	1	88	1	0	0	0	0	1	0	0	0	4700	1058	37	1	1084	1	DNM1	9	130984801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36842	130984801	10228630	10099	17811											
DNM1	1759	broad.mit.edu	37	chr9	131008740	131008740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtggagaagggctttaTgtcgagcaagcatatctttg	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131008740T>C	ENST00000341179.7	+	16	1831	c.1739T>C	c.(1738-1740)aTg>aCg	p.M580T	DNM1_ENST00000486160.1_Missense_Mutation_p.M580T|DNM1_ENST00000372923.3_Missense_Mutation_p.M580T|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000393594.3_Missense_Mutation_p.M580T|DNM1_ENST00000475805.1_Missense_Mutation_p.M580T	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	580	PH.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AAGGGCTTTATGTCGAGCAAG	0.557													False	0	False	9:131008740	0	C	131008740	T	C	131008740	3	2	88	1	0	0	0	0	1	0	0	0	4700	1464	51	4	1796	4	DNM1	9	131008740	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23939	131008740	10204691	10100	17812											
GOLGA2	2801	broad.mit.edu	37	chr9	131022956	131022956	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgactcaagccctcattgtCttgcacctgggcttgaagct	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131022956C>A	ENST00000421699.2	-	17	1477	c.1465G>T	c.(1465-1467)Gac>Tac	p.D489Y	GOLGA2_ENST00000609374.1_Missense_Mutation_p.D477Y	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	489						Golgi cisterna membrane	protein binding	p.D477N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCTCATTGTCTTGCACCTGG	0.682													False	0	False	9:131022956	0	A	131022956	C	A	131022956	3	1	88	1	0	0	0	0	1	0	0	0	6597	913	32	3	1583	3	GOLGA2	9	131022956	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14216	131022956	10190475	10101	17813											
SLC27A4	10999	broad.mit.edu	37	chr9	131107479	131107479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaaaggtgcgacagtgCctgcaggagcggcggacagt	17	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107479C>T	ENST00000300456.4	+	3	324	c.207C>T	c.(205-207)tgC>tgT	p.C69C	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4						long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TGCGACAGTGCCTGCAGGAGC	0.622													False	0	False	9:131107479	0	T	131107479	C	T	131107479	2	4	88	1	0	0	0	0	0	0	0	1	14608	747	26	2		2	SLC27A4	9	131107479	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84523	131107479	10105952	10102	17814											
SLC27A4	10999	broad.mit.edu	37	chr9	131107824	131107824	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctttggcagcgaaatggcCtcaggtgagccccaaggggg	16	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107824C>A	ENST00000300456.4	+	3	669	c.552C>A	c.(550-552)gcC>gcA	p.A184A	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4						long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GCGAAATGGCCTCAGGTGAGC	0.642													False	0	False	9:131107824	0	A	131107824	C	A	131107824	2	1	88	1	0	0	0	0	0	0	0	1	14608	668	24	3		3	SLC27A4	9	131107824	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	345	131107824	10105607	10103	17815											
SLC27A4	10999	broad.mit.edu	37	chr9	131110845	131110845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgtgaggtccatgccaGcctggacccctcgctcagcc	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131110845G>A	ENST00000300456.4	+	4	695	c.578G>A	c.(577-579)aGc>aAc	p.S193N	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4						long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GTCCATGCCAGCCTGGACCCC	0.647													False	0	False	9:131110845	0	A	131110845	G	A	131110845	3	1	88	1	0	0	0	0	1	0	0	0	14608	971	34	2	588	2	SLC27A4	9	131110845	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3021	131110845	10102586	10104	17816											
CERCAM	51148	broad.mit.edu	37	chr9	131198036	131198036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggacgccgagtggctcaGtgacacggagacatcctctc	14	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131198036G>A	ENST00000372842.1	+	13	4550	c.1406G>A	c.(1405-1407)aGt>aAt	p.S469N	CERCAM_ENST00000372838.4_Missense_Mutation_p.S547N			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	547					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GAGTGGCTCAGTGACACGGAG	0.662													False	0	False	9:131198036	0	A	131198036	G	A	131198036	3	1	88	1	0	0	0	0	1	0	0	0	3289	1029	36	2	1686	2	CERCAM	9	131198036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87191	131198036	10015395	10105	17817											
ODF2	4957	broad.mit.edu	37	chr9	131222946	131222946	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagcgaccagcagccagGtaggagcatgccagtggggc	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131222946G>A	ENST00000393527.3	+	5	638		c.e5+1		ODF2_ENST00000434106.3_Intron|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000448249.3_Splice_Site|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000444119.2_Splice_Site|ODF2_ENST00000604420.1_Intron|ODF2_ENST00000372807.5_Splice_Site|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000351030.3_Splice_Site|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000535026.1_Splice_Site	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CAGCAGCCAGGTAGGAGCATG	0.557													False	0	False	9:131222946	0	A	131222946	G	A	131222946	5	1	88	1	0	0	0	0	0	0	1	0	10895	1275	44	2	242	2	ODF2	9	131222946	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24910	131222946	9990485	10106	17818											
ODF2	4957	broad.mit.edu	37	chr9	131243904	131243904	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagcactgctgaaacggCtggcggaggccgactcagag	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131243904C>T	ENST00000434106.3	+	9	1252	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	ODF2_ENST00000372814.3_Silent_p.L341L|ODF2_ENST00000448249.3_Silent_p.L216L|ODF2_ENST00000393533.2_Silent_p.L297L|ODF2_ENST00000444119.2_Silent_p.L273L|ODF2_ENST00000604420.1_Silent_p.L297L|ODF2_ENST00000372807.5_Silent_p.L292L|ODF2_ENST00000393527.3_Silent_p.L273L|ODF2_ENST00000372791.3_Silent_p.L278L|ODF2_ENST00000351030.3_Silent_p.L292L|ODF2_ENST00000546203.1_Silent_p.L278L|ODF2_ENST00000535026.1_3'UTR	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCTGAAACGGCTGGCGGAGGC	0.483													False	0	False	9:131243904	0	T	131243904	C	T	131243904	2	4	88	1	0	0	0	0	0	0	0	1	10895	796	28	2		2	ODF2	9	131243904	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20958	131243904	9969527	10107	17819											
ODF2	4957	broad.mit.edu	37	chr9	131254790	131254790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtgaagaactatgaggGgatgattgacaactataaga	11	5	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131254790G>A	ENST00000434106.3	+	15	1985	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E	ODF2_ENST00000372814.3_Missense_Mutation_p.G585E|ODF2_ENST00000448249.3_Missense_Mutation_p.G460E|ODF2_ENST00000393533.2_Missense_Mutation_p.G541E|ODF2_ENST00000444119.2_Missense_Mutation_p.G517E|ODF2_ENST00000604420.1_Missense_Mutation_p.G541E|ODF2_ENST00000372807.5_Missense_Mutation_p.G536E|ODF2_ENST00000393527.3_Missense_Mutation_p.G517E|ODF2_ENST00000372791.3_Missense_Mutation_p.G522E|ODF2_ENST00000351030.3_Missense_Mutation_p.G536E|ODF2_ENST00000546203.1_Missense_Mutation_p.G522E	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AACTATGAGGGGATGATTGAC	0.587													False	0	True	9:131254790	0	A	131254790	G	A	131254790	3	1	88	1	0	0	0	0	1	0	0	0	10895	1232	43	2	1731	2	ODF2	9	131254790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10886	131254790	9958641	10108	17820											
ODF2	4957	broad.mit.edu	37	chr9	131262527	131262527	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catccgctcccgatctcctcCtgcctgaggccacttatcag	7	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131262527C>A	ENST00000434106.3	+	21	2846	c.2483C>A	c.(2482-2484)cCt>cAt	p.P828H	ODF2_ENST00000444119.2_Missense_Mutation_p.P804H|ODF2_ENST00000604420.1_Missense_Mutation_p.P828H|ODF2_ENST00000372807.5_Missense_Mutation_p.P823H|ODF2_ENST00000393527.3_Missense_Mutation_p.P804H|ODF2_ENST00000351030.3_Missense_Mutation_p.P823H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CGATCTCCTCCTGCCTGAGGC	0.552													False	0	True	9:131262527	0	A	131262527	C	A	131262527	3	1	88	1	0	0	0	0	1	0	0	0	10895	681	24	3	2679	3	ODF2	9	131262527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7737	131262527	9950904	10109	17821											
GLE1	2733	broad.mit.edu	37	chr9	131277836	131277836	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgagtcccagcacacagaatCtatggtacttcagtcctcac	7	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131277836C>A	ENST00000309971.4	+	3	456	c.350C>A	c.(349-351)tCt>tAt	p.S117Y	GLE1_ENST00000372770.4_Missense_Mutation_p.S117Y|GLE1_ENST00000539582.1_5'UTR	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	117					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CACACAGAATCTATGGTACTT	0.398													False	0	False	9:131277836	0	A	131277836	C	A	131277836	3	1	88	1	0	0	0	0	1	0	0	0	6480	913	32	3	360	3	GLE1	9	131277836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15309	131277836	9935595	10110	17822											
GLE1	2733	broad.mit.edu	37	chr9	131298700	131298700	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactttctaaaacgcatgtcAgggatgatccgtctctacgc	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131298700A>G	ENST00000309971.4	+	12	1819	c.1713A>G	c.(1711-1713)tcA>tcG	p.S571S	GLE1_ENST00000372770.4_Silent_p.S571S|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Silent_p.S317S	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	571					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AACGCATGTCAGGGATGATCC	0.468													False	0	True	9:131298700	0	G	131298700	A	G	131298700	2	3	88	1	0	0	0	0	0	0	0	1	6480	175	7	4		4	GLE1	9	131298700	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20864	131298700	9914731	10111	17823											
SPTAN1	6709	broad.mit.edu	37	chr9	131329137	131329137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacccttaggcgtcagaagCtggaagattcctatcgattc	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131329137C>T	ENST00000358161.5	+	2	231	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	SPTAN1_ENST00000372731.4_Silent_p.L40L|SPTAN1_ENST00000372739.3_Silent_p.L40L			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	40					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCGTCAGAAGCTGGAAGATTC	0.468													False	0	False	9:131329137	0	T	131329137	C	T	131329137	2	4	88	1	0	0	0	0	0	0	0	1	15199	796	28	2		2	SPTAN1	9	131329137	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30437	131329137	9884294	10112	17824											
SPTAN1	6709	broad.mit.edu	37	chr9	131365846	131365846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtctgatggttcacaccGtggccacctttaattccatc	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131365846G>A	ENST00000358161.5	+	28	3717	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	SPTAN1_ENST00000372731.4_Missense_Mutation_p.V1202M|SPTAN1_ENST00000372739.3_Missense_Mutation_p.V1202M			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1202					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTTCACACCGTGGCCACCTT	0.488													False	0	False	9:131365846	0	A	131365846	G	A	131365846	3	1	88	1	0	0	0	0	1	0	0	0	15199	1145	40	1	3710	1	SPTAN1	9	131365846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36709	131365846	9847585	10113	17825											
SPTAN1	6709	broad.mit.edu	37	chr9	131369983	131369983	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgctggagcgacaccagGtgggtggacctgcctgctga	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131369983G>A	ENST00000358161.5	+	32	4259		c.e32+1		SPTAN1_ENST00000372731.4_Splice_Site|SPTAN1_ENST00000372739.3_Splice_Site			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCGACACCAGGTGGGTGGACC	0.582													False	0	True	9:131369983	0	A	131369983	G	A	131369983	5	1	88	1	0	0	0	0	0	0	1	0	15199	1275	44	2	4269	2	SPTAN1	9	131369983	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4137	131369983	9843448	10114	17826											
WDR34	89891	broad.mit.edu	37	chr9	131396214	131396214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtttgcttgatcaaaaCtgtgggtttctgggagcttt	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131396214C>A	ENST00000372715.2	-	9	1480	c.1420G>T	c.(1420-1422)Gtt>Ttt	p.V474F		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	474						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TTGATCAAAACTGTGGGTTTC	0.517													False	0	True	9:131396214	0	A	131396214	C	A	131396214	3	1	88	1	0	0	0	0	1	0	0	0	17372	565	20	3	194	3	WDR34	9	131396214	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26231	131396214	9817217	10115	17827											
WDR34	89891	broad.mit.edu	37	chr9	131397074	131397074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggcatccgcgtgagggCtgcctctccagctgccaggg	16	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131397074C>T	ENST00000372715.2	-	7	1168	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	370						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCGTGAGGGCTGCCTCTCCA	0.652													False	0	True	9:131397074	0	T	131397074	C	T	131397074	3	4	88	1	0	0	0	0	1	0	0	0	17372	797	28	2	514	2	WDR34	9	131397074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	860	131397074	9816357	10116	17828											
WDR34	89891	broad.mit.edu	37	chr9	131397201	131397201	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggtctccccgcggggatgCtgtggagaaatggcagcagc	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131397201C>A	ENST00000372715.2	-	7	1042		c.e7-1		WDR34_ENST00000483181.1_Splice_Site	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34							cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCGGGGATGCTGTGGAGAAA	0.627											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:131397201	0	A	131397201	C	A	131397201	5	1	88	1	0	0	0	0	0	0	1	0	17372	811	28	3	641	3	WDR34	9	131397201	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	131397201	9816230	10117	17829											
SET	6418	broad.mit.edu	37	chr9	131455036	131455036	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atattaaatcaggttacagaAtagattttgtaagtatctct	6	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131455036A>C	ENST00000322030.8	+	4	727	c.370A>C	c.(370-372)Ata>Cta	p.I124L	SET_ENST00000477806.1_3'UTR|SET_ENST00000372692.4_Missense_Mutation_p.I137L|SET_ENST00000372688.4_Missense_Mutation_p.I113L|SET_ENST00000409104.3_Missense_Mutation_p.I115L	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear oncogene	137					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AGGTTACAGAATAGATTTTGT	0.363			T	NUP214	AML								False	0	False	9:131455036	0	C	131455036	A	C	131455036	3	2	88	1	0	0	0	0	1	0	0	0	14209	101	4	4	500	4	SET	9	131455036	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57835	131455036	9758395	10118	17830											
PKN3	29941	broad.mit.edu	37	chr9	131467678	131467678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagggggtggagaacctgCggcgcgtggccacagaccgc	19	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131467678C>T	ENST00000291906.4	+	2	514	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	41					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGAGAACCTGCGGCGCGTGGC	0.682													False	0	False	9:131467678	0	T	131467678	C	T	131467678	3	4	88	1	0	0	0	0	1	0	0	0	12050	759	27	1	127	1	PKN3	9	131467678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12642	131467678	9745753	10119	17831											
PKN3	29941	broad.mit.edu	37	chr9	131482694	131482694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaactggcaagccctgCtcgcccgcaccatccagccc	7	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131482694C>A	ENST00000291906.4	+	22	2872	c.2479C>A	c.(2479-2481)Ctc>Atc	p.L827I		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	827	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GCAAGCCCTGCTCGCCCGCAC	0.667													False	0	False	9:131482694	0	A	131482694	C	A	131482694	3	1	88	1	0	0	0	0	1	0	0	0	12050	797	28	3	2565	3	PKN3	9	131482694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15016	131482694	9730737	10120	17832											
ZER1	10444	broad.mit.edu	37	chr9	131495800	131495800	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgatcagcagagggcagtaCttgtccgctgtgggatagga	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131495800C>A	ENST00000291900.2	-	15	2554	c.2148G>T	c.(2146-2148)aaG>aaT	p.K716N		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	716					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	p.K716K(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GAGGGCAGTACTTGTCCGCTG	0.567											OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:131495800	0	A	131495800	C	A	131495800	3	1	88	1	0	0	0	0	1	0	0	0	17708	564	20	3	160	3	ZER1	9	131495800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13106	131495800	9717631	10121	17833											
C9orf114	51490	broad.mit.edu	37	chr9	131591055	131591055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctcctcctcttccaggCgctttgcctgttcctcctgt	7	18	1	0	rs138669669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131591055C>T	ENST00000361256.5	-	3	207	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	56										kidney(2)|large_intestine(4)|ovary(1)	7						CTCTTCCAGGCGCTTTGCCTG	0.562													False	0	False	9:131591055	0	T	131591055	C	T	131591055	3	4	88	1	0	0	0	0	1	0	0	0	2469	768	27	1	1003	1	C9orf114	9	131591055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95255	131591055	9622376	10122	17834											
LRRC8A	56262	broad.mit.edu	37	chr9	131669896	131669896	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaattcccgcgcaccagctcGaagctggagcactttgtgtc	10	13	0	0	rs138562691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131669896G>A	ENST00000259324.5	+	3	976	c.453G>A	c.(451-453)tcG>tcA	p.S151S	LRRC8A_ENST00000372599.3_Silent_p.S151S|LRRC8A_ENST00000372600.4_Silent_p.S151S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	151					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCACCAGCTCGAAGCTGGAGC	0.587													False	0	False	9:131669896	0	A	131669896	G	A	131669896	2	1	88	1	0	0	0	0	0	0	0	1	9083	1045	37	1		1	LRRC8A	9	131669896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78841	131669896	9543535	10123	17835											
DOLK	22845	broad.mit.edu	37	chr9	131708326	131708326	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagggtctggggatcagccaGatgggaagagacatgcccag	16	9	2	2	rs138962748		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131708326G>T	ENST00000372586.3	-	1	1572	c.1257C>A	c.(1255-1257)atC>atA	p.I419I	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	419					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GGATCAGCCAGATGGGAAGAG	0.582													False	0	False	9:131708326	0	T	131708326	G	T	131708326	2	4	88	1	0	0	0	0	0	0	0	1	4733	932	33	3		3	DOLK	9	131708326	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38430	131708326	9505105	10124	17836											
DOLK	22845	broad.mit.edu	37	chr9	131708616	131708616	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttggactcggaagatgAccgcttggcattctggtaca	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131708616A>G	ENST00000372586.3	-	1	1282	c.967T>C	c.(967-969)Tca>Cca	p.S323P	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	323					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						TCGGAAGATGACCGCTTGGCA	0.557													False	0	False	9:131708616	0	G	131708616	A	G	131708616	3	3	88	1	0	0	0	0	1	0	0	0	4733	275	10	4	653	4	DOLK	9	131708616	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	290	131708616	9504815	10125	17837											
DOLK	22845	broad.mit.edu	37	chr9	131709434	131709434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgtagaaggcctgcactGcgagggccacggcgcaccac	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131709434G>A	ENST00000372586.3	-	1	464	c.149C>T	c.(148-150)gCa>gTa	p.A50V	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	50					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GGCCTGCACTGCGAGGGCCAC	0.607													False	0	False	9:131709434	0	A	131709434	G	A	131709434	3	1	88	1	0	0	0	0	1	0	0	0	4733	1319	46	2	1471	2	DOLK	9	131709434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	818	131709434	9503997	10126	17838											
NUP188	23511	broad.mit.edu	37	chr9	131730896	131730896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggcacccagtgacttaCttgtattaaccaagatgttt	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131730896C>T	ENST00000372577.2	+	9	718	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	233					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CAGTGACTTACTTGTATTAAC	0.428													False	0	True	9:131730896	0	T	131730896	C	T	131730896	3	4	88	1	0	0	0	0	1	0	0	0	10826	565	20	2	731	2	NUP188	9	131730896	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21462	131730896	9482535	10127	17839											
NUP188	23511	broad.mit.edu	37	chr9	131749134	131749134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatactgaacctgtgccaCgagacagacctgcacagcag	11	13	0	3	rs141269541		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131749134C>T	ENST00000372577.2	+	22	2265	c.2244C>T	c.(2242-2244)caC>caT	p.H748H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	748					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCTGTGCCACGAGACAGACC	0.507													False	0	False	9:131749134	0	T	131749134	C	T	131749134	2	4	88	1	0	0	0	0	0	0	0	1	10826	535	19	1		1	NUP188	9	131749134	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18238	131749134	9464297	10128	17840											
NUP188	23511	broad.mit.edu	37	chr9	131755935	131755935	+	Silent	SNP	G	G	A													tttttgcatgctctgtggcaGgatcggagggacagtgccat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131755935G>A	ENST00000372577.2	+	27	3000	c.2979G>A	c.(2977-2979)caG>caA	p.Q993Q		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	993					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTCTGTGGCAGGATCGGAGGG	0.512													False	0	False	9:131755935	0	A	131755935	G	A	131755935	2	1	88	1	0	0	0	0	0	0	0	1	10826	991	35	2		2	NUP188	9	131755935	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6801	131755935	9457496	10129	17841	210	2									
NUP188	23511	broad.mit.edu	37	chr9	131755939	131755939	+	Missense_Mutation	SNP	C	C	T													tgcatgctctgtggcaggatCggagggacagtgccatgctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131755939C>T	ENST00000372577.2	+	27	3004	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	995				R -> W (in Ref. 5; AAH40352).	carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGGCAGGATCGGAGGGACAG	0.507													False	0	False	9:131755939	0	T	131755939	C	T	131755939	3	4	88	1	0	0	0	0	1	0	0	0	10826	875	31	1	3089	1	NUP188	9	131755939	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4	131755939	9457492	10130	17842	210	2									
NUP188	23511	broad.mit.edu	37	chr9	131761996	131761996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgaccagacccgccacaGtctggcattaggcagtgcca	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131761996G>A	ENST00000372577.2	+	34	3776	c.3755G>A	c.(3754-3756)aGt>aAt	p.S1252N		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1252					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCCGCCACAGTCTGGCATTA	0.572													False	0	False	9:131761996	0	A	131761996	G	A	131761996	3	1	88	1	0	0	0	0	1	0	0	0	10826	1029	36	2	3889	2	NUP188	9	131761996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6057	131761996	9451435	10131	17843											
NUP188	23511	broad.mit.edu	37	chr9	131763821	131763821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaggtgtgtgtcctggGcctgcacctggccaaggagc	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131763821G>A	ENST00000372577.2	+	35	3878	c.3857G>A	c.(3856-3858)gGc>gAc	p.G1286D		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1286					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGTGTCCTGGGCCTGCACCTG	0.612													False	0	True	9:131763821	0	A	131763821	G	A	131763821	3	1	88	1	0	0	0	0	1	0	0	0	10826	1203	42	2	3995	2	NUP188	9	131763821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1825	131763821	9449610	10132	17844											
FAM73B	84895	broad.mit.edu	37	chr9	131830525	131830525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctggacttcatcctcatgGacgccttcgaggacctggag	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131830525G>A	ENST00000358369.4	+	13	1544	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	440						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CATCCTCATGGACGCCTTCGA	0.642													False	0	False	9:131830525	0	A	131830525	G	A	131830525	3	1	88	1	0	0	0	0	1	0	0	0	5658	1174	41	2	1364	2	FAM73B	9	131830525	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66704	131830525	9382906	10133	17845											
PPP2R4	5524	broad.mit.edu	37	chr9	131909734	131909734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccatccatcctgtcacGtcgggctaggaggggccaag	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131909734G>A	ENST00000337738.1	+	11	1335	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	PPP2R4_ENST00000414510.1_Silent_p.T59T|PPP2R4_ENST00000347048.4_Silent_p.T102T|PPP2R4_ENST00000432651.1_Silent_p.T59T|PPP2R4_ENST00000423100.1_Silent_p.T59T|PPP2R4_ENST00000348141.5_Silent_p.T327T|PPP2R4_ENST00000434095.1_Silent_p.T59T|PPP2R4_ENST00000419582.1_Silent_p.T59T|PPP2R4_ENST00000355007.3_Silent_p.T279T|PPP2R4_ENST00000393370.2_Silent_p.T321T|PPP2R4_ENST00000357197.4_Silent_p.T292T|PPP2R4_ENST00000358994.4_Silent_p.T321T|PPP2R4_ENST00000435132.1_Silent_p.T59T	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	356					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		ATCCTGTCACGTCGGGCTAGG	0.637													False	0	False	9:131909734	0	A	131909734	G	A	131909734	2	1	88	1	0	0	0	0	0	0	0	1	12465	1132	40	1		1	PPP2R4	9	131909734	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79209	131909734	9303697	10134	17846											
IER5L	389792	broad.mit.edu	37	chr9	131940297	131940297	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatcttgcgcagggagatgCtgatcaggctctgggcgtcc	16	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131940297C>A	ENST00000372491.2	-	1	243	c.35G>T	c.(34-36)aGc>aTc	p.S12I	RP11-247A12.2_ENST00000372490.3_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	12													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CAGGGAGATGCTGATCAGGCT	0.667													False	0	False	9:131940297	0	A	131940297	C	A	131940297	3	1	88	1	0	0	0	0	1	0	0	0	7559	797	28	3	1183	3	IER5L	9	131940297	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30563	131940297	9273134	10135	17847											
C9orf50	375759	broad.mit.edu	37	chr9	132375512	132375512	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcctcagaaaggtagccCtgtgtcttctgggtggacct	13	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132375512C>A	ENST00000372478.4	-	6	1263	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	354										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				AAAGGTAGCCCTGTGTCTTCT	0.632													False	0	True	9:132375512	0	A	132375512	C	A	132375512	3	1	88	1	0	0	0	0	1	0	0	0	2507	680	24	3	241	3	C9orf50	9	132375512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	435215	132375512	8837919	10136	17848											
C9orf50	375759	broad.mit.edu	37	chr9	132375527	132375527	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccctgtgtcttctgggtGgacctgggggagacaggacc	16	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132375527G>A	ENST00000372478.4	-	6	1248	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	349										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TCTTCTGGGTGGACCTGGGGG	0.632													False	0	False	9:132375527	0	A	132375527	G	A	132375527	2	1	88	1	0	0	0	0	0	0	0	1	2507	1335	47	2		2	C9orf50	9	132375527	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	132375527	8837904	10137	17849											
C9orf78	51759	broad.mit.edu	37	chr9	132590482	132590482	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaacttctcataatgataGtcatcagttgccttctcgtt	6	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132590482G>T	ENST00000372447.3	-	9	881	c.828C>A	c.(826-828)gaC>gaA	p.D276E		NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	276										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				CATAATGATAGTCATCAGTTG	0.478													False	0	False	9:132590482	0	T	132590482	G	T	132590482	3	4	88	1	0	0	0	0	1	0	0	0	2516	1020	36	3	45	3	C9orf78	9	132590482	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214955	132590482	8622949	10138	17850											
USP20	0	broad.mit.edu	37	chr9	132631614	132631614	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtattgagtgctggcagccgGaggcggaaggagcagcgcta	18	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132631614G>T	ENST00000315480.4	+	13	1460	c.1302G>T	c.(1300-1302)cgG>cgT	p.R434R	USP20_ENST00000372429.3_Silent_p.R434R|USP20_ENST00000358355.1_Silent_p.R434R			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	434					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTGGCAGCCGGAGGCGGAAGG	0.657													False	0	False	9:132631614	0	T	132631614	G	T	132631614	2	4	88	1	0	0	0	0	0	0	0	1	17136	1161	41	3		3	USP20	9	132631614	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41132	132631614	8581817	10139	17851											
USP20	0	broad.mit.edu	37	chr9	132642473	132642473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccccgagattgccatccGccagagtgtggcgcagccgc	14	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132642473G>A	ENST00000315480.4	+	25	2824	c.2666G>A	c.(2665-2667)cGc>cAc	p.R889H	USP20_ENST00000472108.1_3'UTR|USP20_ENST00000372429.3_Missense_Mutation_p.R889H|USP20_ENST00000358355.1_Missense_Mutation_p.R889H			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	889	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ATTGCCATCCGCCAGAGTGTG	0.632													False	0	False	9:132642473	0	A	132642473	G	A	132642473	3	1	88	1	0	0	0	0	1	0	0	0	17136	1087	38	1	2756	1	USP20	9	132642473	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10859	132642473	8570958	10140	17852											
FNBP1	23048	broad.mit.edu	37	chr9	132691961	132691962	+	Frame_Shift_Ins	INS	-	-	TCTGAGTCTTTATATAATT													catttggtgacgtatttgagINScttgttgtcgggccttaggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132691961_132691962insTCTGAGTCTTTATATAATT	ENST00000446176.2	-	7	712_713	c.526_527insAATTATATAAAGACTCAGA	c.(526-528)gctfs	p.A176fs	FNBP1_ENST00000420781.1_Frame_Shift_Ins_p.A176fs|FNBP1_ENST00000355681.3_Frame_Shift_Ins_p.A176fs	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	176	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		ACGTATTTGAGCTTGTTGTCGG	0.421			T	MLL	AML								False	0	False	9:132691961	0	TCTGAGTCTTTATATAATT	132691962	-	TCTGAGTCTTTATATAATT	132691961	7	5	88	1	0	1	1	0	0	0	0	0	6005	971	34	0	1370	0	FNBP1	9	132691961	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	49488	132691961	8521470	10141	17853											
GPR107	0	broad.mit.edu	37	chr9	132848734	132848734	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttttctgttcataataaTggtggggcagtgtcatttca	9	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132848734T>C	ENST00000372406.1	+	7	1107	c.600T>C	c.(598-600)aaT>aaC	p.N200N	GPR107_ENST00000372410.3_Silent_p.N200N|GPR107_ENST00000347136.6_Silent_p.N200N	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	200						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTCATAATAATGGTGGGGCAG	0.348													False	0	False	9:132848734	0	C	132848734	T	C	132848734	2	2	88	1	0	0	0	0	0	0	0	1	6669	1461	51	4		4	GPR107	9	132848734	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156773	132848734	8364697	10142	17854											
FUBP3	8939	broad.mit.edu	37	chr9	133501820	133501820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggcgactggagcgtgGgagcccctggtggcgtccag	19	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133501820G>A	ENST00000319725.9	+	12	1120	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	349					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CTGGAGCGTGGGAGCCCCTGG	0.602											OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	9:133501820	0	A	133501820	G	A	133501820	3	1	88	1	0	0	0	0	1	0	0	0	6135	1233	43	2	1091	2	FUBP3	9	133501820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	653086	133501820	7711611	10143	17855											
ABL1	25	broad.mit.edu	37	chr9	133730325	133730325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacactcctggtaccatgggCctgtgtcccgcaatgccgct	10	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133730325C>T	ENST00000318560.5	+	3	772	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	131	SH2.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GTACCATGGGCCTGTGTCCCG	0.562			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								False	0	True	9:133730325	0	T	133730325	C	T	133730325	3	4	88	1	0	0	0	0	1	0	0	0	92	739	26	2	541	2	ABL1	9	133730325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228505	133730325	7483106	10144	17856											
ABL1	25	broad.mit.edu	37	chr9	133755491	133755491	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaccggccctcctttgCtgaaatccaccaagcctttg	7	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133755491C>A	ENST00000318560.5	+	9	1841	c.1460C>A	c.(1459-1461)gCt>gAt	p.A487D		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	487	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCTCCTTTGCTGAAATCCAC	0.532			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								False	0	False	9:133755491	0	A	133755491	C	A	133755491	3	1	88	1	0	0	0	0	1	0	0	0	92	797	28	3	1634	3	ABL1	9	133755491	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25166	133755491	7457940	10145	17857											
ABL1	25	broad.mit.edu	37	chr9	133759474	133759474	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagacaaaaagaccaacttGttcagcgccttgatcaagaa	7	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133759474G>C	ENST00000318560.5	+	11	2178	c.1797G>C	c.(1795-1797)ttG>ttC	p.L599F		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	599					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGACCAACTTGTTCAGCGCCT	0.597			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								False	0	False	9:133759474	0	C	133759474	G	C	133759474	3	2	88	1	0	0	0	0	1	0	0	0	92	1368	48	5	1979	5	ABL1	9	133759474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3983	133759474	7453957	10146	17858											
ABL1	25	broad.mit.edu	37	chr9	133760702	133760702	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatccctctcatatcaaccCgagtgtctcttcggaaaacc	5	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133760702C>T	ENST00000318560.5	+	11	3406	c.3025C>T	c.(3025-3027)Cga>Tga	p.R1009*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	1009	F-actin-binding.|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CATATCAACCCGAGTGTCTCT	0.662			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								False	0	True	9:133760702	0	T	133760702	C	T	133760702	4	4	88	1	0	0	0	0	0	1	0	0	92	644	23	1	3207	1	ABL1	9	133760702	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1228	133760702	7452729	10147	17859											
ABL1	25	broad.mit.edu	37	chr9	133760790	133760790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctggacagcaccgaggCgctgtgcctcgccatctcta	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133760790C>T	ENST00000318560.5	+	11	3494	c.3113C>T	c.(3112-3114)gCg>gTg	p.A1038V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	1038	F-actin-binding.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGCACCGAGGCGCTGTGCCTC	0.622			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								False	0	False	9:133760790	0	T	133760790	C	T	133760790	3	4	88	1	0	0	0	0	1	0	0	0	92	768	27	1	3295	1	ABL1	9	133760790	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	133760790	7452641	10148	17860											
FIBCD1	84929	broad.mit.edu	37	chr9	133779547	133779547	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactccacgccgtcggcataGgaggcgtgcgcaccgcgcag	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133779547G>T	ENST00000372338.4	-	7	1532	c.1290C>A	c.(1288-1290)tcC>tcA	p.S430S	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Silent_p.S272S|FIBCD1_ENST00000448616.1_Silent_p.S430S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	430	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGTCGGCATAGGAGGCGTGCG	0.632													False	0	False	9:133779547	0	T	133779547	G	T	133779547	2	4	88	1	0	0	0	0	0	0	0	1	5924	987	35	3		3	FIBCD1	9	133779547	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18757	133779547	7433884	10149	17861											
LAMC3	10319	broad.mit.edu	37	chr9	133928326	133928326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaccagcctccgcctccGcgtcagtcccggccccagcc	9	23	1	1	rs148563273	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133928326G>A	ENST00000361069.4	+	11	2046	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	638	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCCGCCTCCGCGTCAGTCCC	0.682											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:133928326	0	A	133928326	G	A	133928326	3	1	88	1	0	0	0	0	1	0	0	0	8667	1087	38	1	1955	1	LAMC3	9	133928326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148779	133928326	7285105	10150	17862											
LAMC3	10319	broad.mit.edu	37	chr9	133961019	133961019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaagaagaccaagcaggCggagaggatgctgggaaacg	17	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133961019C>T	ENST00000361069.4	+	25	4272	c.4139C>T	c.(4138-4140)gCg>gTg	p.A1380V	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1380	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity	p.A1380V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACCAAGCAGGCGGAGAGGATG	0.597													False	0	False	9:133961019	0	T	133961019	C	T	133961019	3	4	88	1	0	0	0	0	1	0	0	0	8667	768	27	1	4237	1	LAMC3	9	133961019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32693	133961019	7252412	10151	17863											
NUP214	8021	broad.mit.edu	37	chr9	134021520	134021520	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccatttttcaggtttActgctgcagctacctctact	8	12	2	0	rs142397246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134021520A>G	ENST00000359428.5	+	13	1918	c.1774A>G	c.(1774-1776)Act>Gct	p.T592A	RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Intron|NUP214_ENST00000451030.1_Missense_Mutation_p.T592A|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	592	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTCAGGTTTACTGCTGCAGC	0.483			T	"DEK, SET, ABL1"	"AML, T-ALL"								False	0	True	9:134021520	0	G	134021520	A	G	134021520	3	3	88	1	0	0	0	0	1	0	0	0	10830	391	14	4	1824	4	NUP214	9	134021520	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60501	134021520	7191911	10152	17864											
NUP214	8021	broad.mit.edu	37	chr9	134073818	134073818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctggctcatccgtctttgCtcagcctcctgctgccagtt	8	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134073818C>A	ENST00000359428.5	+	29	5081	c.4937C>A	c.(4936-4938)gCt>gAt	p.A1646D	NUP214_ENST00000411637.2_Missense_Mutation_p.A1636D|NUP214_ENST00000451030.1_Missense_Mutation_p.A1647D|NUP214_ENST00000483497.2_Missense_Mutation_p.A472D			P35658	NU214_HUMAN	nucleoporin 214kDa	1646	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCCGTCTTTGCTCAGCCTCCT	0.597			T	"DEK, SET, ABL1"	"AML, T-ALL"								False	0	False	9:134073818	0	A	134073818	C	A	134073818	3	1	88	1	0	0	0	0	1	0	0	0	10830	797	28	3	5051	3	NUP214	9	134073818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52298	134073818	7139613	10153	17865											
NUP214	8021	broad.mit.edu	37	chr9	134074085	134074085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctcagtctttgggcagtCggcgagcagtgctgcaagtg	16	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134074085C>T	ENST00000359428.5	+	29	5348	c.5204C>T	c.(5203-5205)tCg>tTg	p.S1735L	NUP214_ENST00000411637.2_Missense_Mutation_p.S1725L|NUP214_ENST00000451030.1_Missense_Mutation_p.S1736L|NUP214_ENST00000483497.2_Missense_Mutation_p.S561L			P35658	NU214_HUMAN	nucleoporin 214kDa	1735	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTGGGCAGTCGGCGAGCAGT	0.592			T	"DEK, SET, ABL1"	"AML, T-ALL"								False	0	False	9:134074085	0	T	134074085	C	T	134074085	3	4	88	1	0	0	0	0	1	0	0	0	10830	893	31	1	5318	1	NUP214	9	134074085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267	134074085	7139346	10154	17866											
NUP214	8021	broad.mit.edu	37	chr9	134090667	134090667	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagggggaggtttcttcagTggccttggaggaaaacccag	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134090667T>C	ENST00000359428.5	+	31	5805	c.5661T>C	c.(5659-5661)agT>agC	p.S1887S	NUP214_ENST00000411637.2_Silent_p.S1877S|NUP214_ENST00000451030.1_Silent_p.S1888S|NUP214_ENST00000483497.2_Silent_p.S713S			P35658	NU214_HUMAN	nucleoporin 214kDa	1887	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTTTCTTCAGTGGCCTTGGAG	0.498			T	"DEK, SET, ABL1"	"AML, T-ALL"								False	0	False	9:134090667	0	C	134090667	T	C	134090667	2	2	88	1	0	0	0	0	0	0	0	1	10830	1693	59	4		4	NUP214	9	134090667	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16582	134090667	7122764	10155	17867											
NUP214	8021	broad.mit.edu	37	chr9	134103652	134103652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccccagcctttacaagccCtctgggctcgacgggaggca	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134103652C>A	ENST00000359428.5	+	33	6152	c.6008C>A	c.(6007-6009)cCt>cAt	p.P2003H	NUP214_ENST00000411637.2_Missense_Mutation_p.P1993H|NUP214_ENST00000451030.1_Missense_Mutation_p.P2004H|NUP214_ENST00000483497.2_Missense_Mutation_p.P829H			P35658	NU214_HUMAN	nucleoporin 214kDa	2003	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTACAAGCCCTCTGGGCTCG	0.637			T	"DEK, SET, ABL1"	"AML, T-ALL"								False	0	True	9:134103652	0	A	134103652	C	A	134103652	3	1	88	1	0	0	0	0	1	0	0	0	10830	681	24	3	6138	3	NUP214	9	134103652	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12985	134103652	7109779	10156	17868											
FAM78A	286336	broad.mit.edu	37	chr9	134151321	134151321	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaactacccaagtctccttCttggggatgggcggcatgac	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134151321C>A	ENST00000372271.3	-	1	613	c.246G>T	c.(244-246)aaG>aaT	p.K82N		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	82										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		AAGTCTCCTTCTTGGGGATGG	0.637													False	0	False	9:134151321	0	A	134151321	C	A	134151321	3	1	88	1	0	0	0	0	1	0	0	0	5666	912	32	3	613	3	FAM78A	9	134151321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47669	134151321	7062110	10157	17869											
FAM78A	286336	broad.mit.edu	37	chr9	134151457	134151457	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacatcaatcaccgtgatcCcttcccggaagactctggct	7	15	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134151457C>T	ENST00000372271.3	-	1	477	c.110G>A	c.(109-111)gGg>gAg	p.G37E		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	37										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CACCGTGATCCCTTCCCGGAA	0.582													False	0	True	9:134151457	0	T	134151457	C	T	134151457	3	4	88	1	0	0	0	0	1	0	0	0	5666	623	22	2	749	2	FAM78A	9	134151457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136	134151457	7061974	10158	17870											
MED27	9442	broad.mit.edu	37	chr9	134955158	134955158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccctgctcacgctggagCgcagcgcctggatggcacta	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134955158C>T	ENST00000292035.5	-	1	137	c.74G>A	c.(73-75)cGc>cAc	p.R25H	MED27_ENST00000357028.2_Missense_Mutation_p.R25H|MED27_ENST00000474263.1_Missense_Mutation_p.R25H	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	25					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		CACGCTGGAGCGCAGCGCCTG	0.602													False	0	True	9:134955158	0	T	134955158	C	T	134955158	3	4	88	1	0	0	0	0	1	0	0	0	9512	768	27	1	893	1	MED27	9	134955158	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	803701	134955158	6258273	10159	17871											
NTNG2	84628	broad.mit.edu	37	chr9	135073361	135073361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccgctgcaggagaatccCtacctatgcagcaacgagtg	10	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073361C>T	ENST00000393229.3	+	3	998	c.222C>T	c.(220-222)ccC>ccT	p.P74P	NTNG2_ENST00000372179.3_Silent_p.P74P|NTNG2_ENST00000393228.4_Silent_p.P74P|NTNG2_ENST00000360670.3_Silent_p.P74P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	74	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AGGAGAATCCCTACCTATGCA	0.667													False	0	True	9:135073361	0	T	135073361	C	T	135073361	2	4	88	1	0	0	0	0	0	0	0	1	10773	668	24	2		2	NTNG2	9	135073361	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118203	135073361	6140070	10160	17872											
NTNG2	84628	broad.mit.edu	37	chr9	135073579	135073579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgagtacggccggcccaCggtcatggtcctggagaagt	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073579C>T	ENST00000393229.3	+	3	1216	c.440C>T	c.(439-441)aCg>aTg	p.T147M	NTNG2_ENST00000372179.3_Missense_Mutation_p.T147M|NTNG2_ENST00000393228.4_Missense_Mutation_p.T147M|NTNG2_ENST00000360670.3_Missense_Mutation_p.T147M	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	147	Laminin N-terminal.				axonogenesis	anchored to plasma membrane		p.T147M(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGCCGGCCCACGGTCATGGTC	0.642													False	0	False	9:135073579	0	T	135073579	C	T	135073579	3	4	88	1	0	0	0	0	1	0	0	0	10773	536	19	1	446	1	NTNG2	9	135073579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	135073579	6139852	10161	17873											
NTNG2	84628	broad.mit.edu	37	chr9	135073735	135073735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctctgcaccgaggagtActcgcgctgggcaggctcca	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073735A>G	ENST00000393229.3	+	3	1372	c.596A>G	c.(595-597)tAc>tGc	p.Y199C	NTNG2_ENST00000372179.3_Missense_Mutation_p.Y199C|NTNG2_ENST00000393228.4_Missense_Mutation_p.Y199C|NTNG2_ENST00000360670.3_Missense_Mutation_p.Y199C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	199	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACCGAGGAGTACTCGCGCTGG	0.667													False	0	False	9:135073735	0	G	135073735	A	G	135073735	3	3	88	1	0	0	0	0	1	0	0	0	10773	391	14	4	602	4	NTNG2	9	135073735	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	156	135073735	6139696	10162	17874											
NTNG2	84628	broad.mit.edu	37	chr9	135073905	135073905	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgacctgcgcatgcggCtgctgcgcccggcgctgggc	15	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073905C>T	ENST00000393229.3	+	3	1542	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	NTNG2_ENST00000372179.3_Silent_p.L256L|NTNG2_ENST00000393228.4_Silent_p.L256L|NTNG2_ENST00000360670.3_Silent_p.L256L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	256	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCGCATGCGGCTGCTGCGCCC	0.642													False	0	False	9:135073905	0	T	135073905	C	T	135073905	2	4	88	1	0	0	0	0	0	0	0	1	10773	796	28	2		2	NTNG2	9	135073905	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170	135073905	6139526	10163	17875											
NTNG2	84628	broad.mit.edu	37	chr9	135073991	135073991	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctccaacatcgaggtcatCggcaggtaaggccgggggaa	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073991C>T	ENST00000393229.3	+	3	1628	c.852C>T	c.(850-852)atC>atT	p.I284I	NTNG2_ENST00000372179.3_Silent_p.I284I|NTNG2_ENST00000393228.4_Silent_p.I284I|NTNG2_ENST00000360670.3_Silent_p.I284I	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	284	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TCGAGGTCATCGGCAGGTAAG	0.587													False	0	False	9:135073991	0	T	135073991	C	T	135073991	2	4	88	1	0	0	0	0	0	0	0	1	10773	874	31	1		1	NTNG2	9	135073991	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	135073991	6139440	10164	17876											
NTNG2	84628	broad.mit.edu	37	chr9	135102389	135102389	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctacctgccgctgccCcatggctctcccaacgcctg	9	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135102389C>T	ENST00000393229.3	+	4	1787	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	NTNG2_ENST00000372179.3_Silent_p.P337P|NTNG2_ENST00000393228.4_Silent_p.P337P|NTNG2_ENST00000360670.3_Silent_p.P337P	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	337	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGCCGCTGCCCCATGGCTCTC	0.647													False	0	True	9:135102389	0	T	135102389	C	T	135102389	2	4	88	1	0	0	0	0	0	0	0	1	10773	610	22	2		2	NTNG2	9	135102389	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28398	135102389	6111042	10165	17877											
NTNG2	84628	broad.mit.edu	37	chr9	135105980	135105980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccactgcaggttcctttgGcagtaagtacacgcctgggg	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135105980G>A	ENST00000393229.3	+	5	1828	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	NTNG2_ENST00000372179.3_Missense_Mutation_p.G351D|NTNG2_ENST00000393228.4_Intron|NTNG2_ENST00000360670.3_Intron	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	351					axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGTTCCTTTGGCAGTAAGTAC	0.632													False	0	False	9:135105980	0	A	135105980	G	A	135105980	3	1	88	1	0	0	0	0	1	0	0	0	10773	1203	42	2	1066	2	NTNG2	9	135105980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3591	135105980	6107451	10166	17878											
NTNG2	84628	broad.mit.edu	37	chr9	135114495	135114495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttggccggcccagactgCgaatgctacggtcactccaa	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135114495C>T	ENST00000393229.3	+	6	1835	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NTNG2_ENST00000393228.4_Silent_p.C345C|NTNG2_ENST00000360670.3_Silent_p.C359C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	353	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCCCAGACTGCGAATGCTACG	0.587													False	0	False	9:135114495	0	T	135114495	C	T	135114495	2	4	88	1	0	0	0	0	0	0	0	1	10773	776	27	1		1	NTNG2	9	135114495	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8515	135114495	6098936	10167	17879											
NTNG2	84628	broad.mit.edu	37	chr9	135117335	135117335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaccagcgctgcgcctGcccgcgcggctacaccggcg	14	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135117335G>A	ENST00000393229.3	+	8	2206	c.1430G>A	c.(1429-1431)tGc>tAc	p.C477Y	NTNG2_ENST00000490694.1_3'UTR|NTNG2_ENST00000393228.4_Missense_Mutation_p.C469Y|NTNG2_ENST00000360670.3_Missense_Mutation_p.C483Y	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	477					axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CGCTGCGCCTGCCCGCGCGGC	0.761													False	0	True	9:135117335	0	A	135117335	G	A	135117335	3	1	88	1	0	0	0	0	1	0	0	0	10773	1319	46	2	1456	2	NTNG2	9	135117335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2840	135117335	6096096	10168	17880											
SETX	23064	broad.mit.edu	37	chr9	135139642	135139642	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctataaaagctttcttTtcttggaactgctgtcctcc	5	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135139642T>G	ENST00000372169.2	-	27	8287	c.8105A>C	c.(8104-8106)aAa>aCa	p.K2702T	SETX_ENST00000393220.1_Missense_Mutation_p.K2640T|SETX_ENST00000224140.5_Missense_Mutation_p.K2673T|SETX_ENST00000477049.1_5'UTR			Q7Z333	SETX_HUMAN	senataxin	2673					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAGCTTTCTTTTCTTGGAACT	0.512													False	0	True	9:135139642	0	G	135139642	T	G	135139642	3	3	88	1	0	0	0	0	1	0	0	0	14222	1841	64	4	19	4	SETX	9	135139642	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22307	135139642	6073789	10169	17881											
SETX	23064	broad.mit.edu	37	chr9	135203375	135203375	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaattgggagttgaagtccTtctatcaatacttttaaaat	7	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135203375T>G	ENST00000372169.2	-	10	3792	c.3610A>C	c.(3610-3612)Agg>Cgg	p.R1204R	SETX_ENST00000393220.1_Silent_p.R1204R|SETX_ENST00000224140.5_Silent_p.R1204R			Q7Z333	SETX_HUMAN	senataxin	1204					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTTGAAGTCCTTCTATCAATA	0.403													False	0	False	9:135203375	0	G	135203375	T	G	135203375	2	3	88	1	0	0	0	0	0	0	0	1	14222	1608	56	4		4	SETX	9	135203375	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63733	135203375	6010056	10170	17882											
SETX	23064	broad.mit.edu	37	chr9	135203494	135203494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccattggtttttcagatCgttttctcttaggctttttt	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135203494C>T	ENST00000372169.2	-	10	3673	c.3491G>A	c.(3490-3492)cGa>cAa	p.R1164Q	SETX_ENST00000393220.1_Missense_Mutation_p.R1164Q|SETX_ENST00000224140.5_Missense_Mutation_p.R1164Q			Q7Z333	SETX_HUMAN	senataxin	1164					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTTTCAGATCGTTTTCTCTT	0.393													False	0	False	9:135203494	0	T	135203494	C	T	135203494	3	4	88	1	0	0	0	0	1	0	0	0	14222	884	31	1	4610	1	SETX	9	135203494	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119	135203494	6009937	10171	17883											
TTF1	7270	broad.mit.edu	37	chr9	135277105	135277105	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtactgccttccacagtCccaacctcactgcccacctg	6	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135277105C>T	ENST00000334270.2	-	2	1143	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	368					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTTCCACAGTCCCAACCTCAC	0.483													False	0	True	9:135277105	0	T	135277105	C	T	135277105	2	4	88	1	0	0	0	0	0	0	0	1	16802	842	30	2		2	TTF1	9	135277105	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73611	135277105	5936326	10172	17884											
TTF1	7270	broad.mit.edu	37	chr9	135277186	135277186	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccactgcctcaaattcctgGtgattggactttttcttttt	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135277186G>T	ENST00000334270.2	-	2	1062	c.1023C>A	c.(1021-1023)caC>caA	p.H341Q		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	341					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CAAATTCCTGGTGATTGGACT	0.507													False	0	False	9:135277186	0	T	135277186	G	T	135277186	3	4	88	1	0	0	0	0	1	0	0	0	16802	1252	44	3	1734	3	TTF1	9	135277186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	135277186	5936245	10173	17885											
C9orf171	389799	broad.mit.edu	37	chr9	135374874	135374874	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcctggtgactgcccgggaGaacttgctctaccgtcagct	13	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135374874G>A	ENST00000343036.2	+	4	567	c.519G>A	c.(517-519)gaG>gaA	p.E173E	C9orf171_ENST00000393216.2_Silent_p.E137E|C9orf171_ENST00000393215.3_Silent_p.E137E	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	173										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCCCGGGAGAACTTGCTCT	0.592													False	0	False	9:135374874	0	A	135374874	G	A	135374874	2	1	88	1	0	0	0	0	0	0	0	1	2490	933	33	2		2	C9orf171	9	135374874	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97688	135374874	5838557	10174	17886											
TSC1	0	broad.mit.edu	37	chr9	135778026	135778026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggttgtagaattcctctCggtcatgctgcagctgtctg	11	10	4	1	rs118203683		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135778026C>T	ENST00000298552.3	-	18	2578	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	TSC1_ENST00000545250.1_Missense_Mutation_p.R735Q|TSC1_ENST00000440111.2_Missense_Mutation_p.R786Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	786					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GAATTCCTCTCGGTCATGCTG	0.527			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:135778026	0	T	135778026	C	T	135778026	3	4	88	1	0	0	0	0	1	0	0	0	16688	884	31	1	1161	1	TSC1	9	135778026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	403152	135778026	5435405	10175	17887											
GFI1B	8328	broad.mit.edu	37	chr9	135863798	135863798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcactgagcccgccttggaCttcagcctccgctactcccc	8	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135863798C>A	ENST00000339463.3	+	8	1272	c.453C>A	c.(451-453)gaC>gaA	p.D151E	GFI1B_ENST00000450530.1_Missense_Mutation_p.D151E|GFI1B_ENST00000534944.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372122.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372124.1_Missense_Mutation_p.D151E|GFI1B_ENST00000372123.1_Missense_Mutation_p.D151E			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	151	Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCGCCTTGGACTTCAGCCTCC	0.657													False	0	False	9:135863798	0	A	135863798	C	A	135863798	3	1	88	1	0	0	0	0	1	0	0	0	6385	564	20	3	463	3	GFI1B	9	135863798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85772	135863798	5349633	10176	17888											
GFI1B	8328	broad.mit.edu	37	chr9	135866287	135866287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcacaagtgccaggtgtgCggaaaggccttcagccagag	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135866287C>T	ENST00000339463.3	+	11	1662	c.843C>T	c.(841-843)tgC>tgT	p.C281C	GFI1B_ENST00000450530.1_Silent_p.C281C|GFI1B_ENST00000534944.1_Silent_p.C235C|GFI1B_ENST00000372122.1_Silent_p.C281C|GFI1B_ENST00000372124.1_Silent_p.C235C|GFI1B_ENST00000372123.1_Silent_p.C235C			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	281	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GCCAGGTGTGCGGAAAGGCCT	0.647													False	0	False	9:135866287	0	T	135866287	C	T	135866287	2	4	88	1	0	0	0	0	0	0	0	1	6385	776	27	1		1	GFI1B	9	135866287	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2489	135866287	5347144	10177	17889											
CEL	1056	broad.mit.edu	37	chr9	135940536	135940536	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtatgacggcgaggagatCgccacacgcggaaacgtcat	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135940536C>T	ENST00000372080.4	+	4	475	c.459C>T	c.(457-459)atC>atT	p.I153I	CEL_ENST00000351304.7_Silent_p.I150I	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	150					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCGAGGAGATCGCCACACGCG	0.607													False	0	False	9:135940536	0	T	135940536	C	T	135940536	2	4	88	1	0	0	0	0	0	0	0	1	3232	874	31	1		1	CEL	9	135940536	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74249	135940536	5272895	10178	17890											
CEL	1056	broad.mit.edu	37	chr9	135942552	135942552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggttactgatccccgagcCctgacgctggcctataaggt	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135942552C>T	ENST00000372080.4	+	7	880	c.864C>T	c.(862-864)gcC>gcT	p.A288A	CEL_ENST00000351304.7_Silent_p.A285A	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	285				RALTL -> AAVTV (in Ref. 5; AAB35488).	cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ATCCCCGAGCCCTGACGCTGG	0.652													False	0	True	9:135942552	0	T	135942552	C	T	135942552	2	4	88	1	0	0	0	0	0	0	0	1	3232	610	22	2		2	CEL	9	135942552	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2016	135942552	5270879	10179	17891											
RALGDS	5900	broad.mit.edu	37	chr9	135977147	135977147	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactgtgaggctgattcccaGaactgagggagacggtaaga	15	7	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135977147G>T	ENST00000393160.3	-	16	2402	c.2049C>A	c.(2047-2049)ttC>ttA	p.F683L	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.F726L|RALGDS_ENST00000393157.3_Missense_Mutation_p.F737L|RALGDS_ENST00000372062.3_Missense_Mutation_p.F709L|RALGDS_ENST00000542690.1_Missense_Mutation_p.F809L|RALGDS_ENST00000372050.3_Missense_Mutation_p.F738L	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	738					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTGATTCCCAGAACTGAGGGA	0.627			T	CIITA	"PMBL, Hodgkin Lymphona, "								False	0	False	9:135977147	0	T	135977147	G	T	135977147	3	4	88	1	0	0	0	0	1	0	0	0	13095	933	33	3	542	3	RALGDS	9	135977147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34595	135977147	5236284	10180	17892											
RALGDS	5900	broad.mit.edu	37	chr9	136030569	136030569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcccactactcacttccCcacggcaaacaccgtgaccc	5	21	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136030569C>T	ENST00000542690.1	-	6	672	c.392G>A	c.(391-393)gGg>gAg	p.G131E	GBGT1_ENST00000540636.1_Missense_Mutation_p.G102R|GBGT1_ENST00000372043.3_Missense_Mutation_p.G119R|GBGT1_ENST00000372040.3_Missense_Mutation_p.G119R|GBGT1_ENST00000372038.3_Missense_Mutation_p.G131E|GBGT1_ENST00000472281.1_5'UTR			Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	60	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACTCACTTCCCCACGGCAAAC	0.592			T	CIITA	"PMBL, Hodgkin Lymphona, "								False	0	True	9:136030569	0	T	136030569	C	T	136030569	3	4	88	1	0	0	0	0	1	0	0	0	13095	623	22	2		2	RALGDS	9	136030569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53422	136030569	5182862	10181	17893											
ABO	28	broad.mit.edu	37	chr9	136132863	136132863	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaactgctcgttgaggatgtCgatgttgaatgtgccctccc	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136132863C>T	ENST00000453660.2	-	0	317							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TTGAGGATGTCGATGTTGAAT	0.552													False	0	False	9:136132863	0	T	136132863	C	T	136132863	1	4	88	0	1	0	0	0	0	0	0	0	97	871	31	1		1	ABO	9	136132863	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102294	136132863	5080568	10182	17894											
MED22	6837	broad.mit.edu	37	chr9	136208494	136208494	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtctgtgtcgaggtccagcCtcccgtaagcttcgcacaga	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136208494C>A	ENST00000491289.1	-	5	1045	c.464G>T	c.(463-465)aGg>aTg	p.R155M	MED22_ENST00000476080.1_3'UTR|MED22_ENST00000344469.5_3'UTR|MED22_ENST00000343730.5_Missense_Mutation_p.R155M			Q15528	MED22_HUMAN	mediator complex subunit 22	155					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GAGGTCCAGCCTCCCGTAAGC	0.637													False	0	False	9:136208494	0	A	136208494	C	A	136208494	3	1	88	1	0	0	0	0	1	0	0	0	9507	681	24	3	142	3	MED22	9	136208494	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75631	136208494	5004937	10183	17895											
RPL7A	6130	broad.mit.edu	37	chr9	136218201	136218201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggcaaaggctaaagaaCttgccactaaactgggttaa	9	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136218201C>T	ENST00000323345.6	+	8	811	c.781C>T	c.(781-783)Ctt>Ttt	p.L261F	RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_Missense_Mutation_p.L146F	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	261					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GGCTAAAGAACTTGCCACTAA	0.418													False	0	False	9:136218201	0	T	136218201	C	T	136218201	3	4	88	1	0	0	0	0	1	0	0	0	13679	565	20	2	811	2	RPL7A	9	136218201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9707	136218201	4995230	10184	17896											
SURF4	6836	broad.mit.edu	37	chr9	136231830	136231830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgcatggtggggacgccCgcaaacatgctcttcccttc	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136231830C>T	ENST00000371989.3	-	5	558	c.429G>A	c.(427-429)gcG>gcA	p.A143A	SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000371991.3_Silent_p.A143A|SURF4_ENST00000545297.1_Intron|SURF4_ENST00000485435.2_Silent_p.A143A	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	143						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGGGGACGCCCGCAAACATGC	0.577													False	0	True	9:136231830	0	T	136231830	C	T	136231830	2	4	88	1	0	0	0	0	0	0	0	1	15487	639	23	1		1	SURF4	9	136231830	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13629	136231830	4981601	10185	17897											
C9orf96	169436	broad.mit.edu	37	chr9	136245957	136245957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgaacctggtggtggaGgaaatggaaaccaaagtcaa	16	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136245957G>T	ENST00000371957.3	+	2	245	c.138G>T	c.(136-138)gaG>gaT	p.E46D	C9orf96_ENST00000468046.1_3'UTR|C9orf96_ENST00000426926.2_Missense_Mutation_p.E46D|C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	46	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGTGGTGGAGGAAATGGAAA	0.498													False	0	False	9:136245957	0	T	136245957	G	T	136245957	3	4	88	1	0	0	0	0	1	0	0	0	2528	991	35	3	144	3	C9orf96	9	136245957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14127	136245957	4967474	10186	17898											
C9orf96	169436	broad.mit.edu	37	chr9	136260729	136260729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctctctccgtgcagggCacagaagccatgcatctgcg	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136260729C>T	ENST00000371957.3	+	9	812	c.705C>T	c.(703-705)ggC>ggT	p.G235G	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	235	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCGTGCAGGGCACAGAAGCCA	0.567													False	0	True	9:136260729	0	T	136260729	C	T	136260729	2	4	88	1	0	0	0	0	0	0	0	1	2528	697	25	2		2	C9orf96	9	136260729	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14772	136260729	4952702	10187	17899											
SLC2A6	11182	broad.mit.edu	37	chr9	136337180	136337180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctccccgtgcggaagaagGactcgatctgctccagggac	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136337180G>A	ENST00000371899.4	-	10	1564	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.S434F	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	496						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCGGAAGAAGGACTCGATCTG	0.617													False	0	False	9:136337180	0	A	136337180	G	A	136337180	3	1	88	1	0	0	0	0	1	0	0	0	14629	1174	41	2	40	2	SLC2A6	9	136337180	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76451	136337180	4876251	10188	17900											
SLC2A6	11182	broad.mit.edu	37	chr9	136337292	136337292	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggcacctggaggccgaAggtgctctgcgggtgaagag	18	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136337292A>C	ENST00000371899.4	-	10	1452	c.1375T>G	c.(1375-1377)Ttc>Gtc	p.F459V	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.F397V	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	459						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TGGAGGCCGAAGGTGCTCTGC	0.657													False	0	False	9:136337292	0	C	136337292	A	C	136337292	3	2	88	1	0	0	0	0	1	0	0	0	14629	72	3	4	152	4	SLC2A6	9	136337292	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112	136337292	4876139	10189	17901											
TMEM8C	389827	broad.mit.edu	37	chr9	136385362	136385362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactccaggatgtcgtgacGcatgaagcacagcacagaca	10	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136385362G>A	ENST00000339996.3	-	2	285	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	62						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						ATGTCGTGACGCATGAAGCAC	0.587													False	0	False	9:136385362	0	A	136385362	G	A	136385362	3	1	88	1	0	0	0	0	1	0	0	0	16298	1087	38	1	497	1	TMEM8C	9	136385362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48070	136385362	4828069	10190	17902											
SARDH	1757	broad.mit.edu	37	chr9	136531866	136531866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggactcaccggcccaccGctggggtcatggatgtaacc	14	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136531866G>A	ENST00000371872.4	-	20	2879	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	SARDH_ENST00000439388.1_Silent_p.S874S|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000371868.1_Silent_p.S324S|SARDH_ENST00000422262.2_Silent_p.S706S	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	874					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCGGCCCACCGCTGGGGTCAT	0.632													False	0	False	9:136531866	0	A	136531866	G	A	136531866	2	1	88	1	0	0	0	0	0	0	0	1	13921	1078	38	1		1	SARDH	9	136531866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146504	136531866	4681565	10191	17903											
SARDH	1757	broad.mit.edu	37	chr9	136561447	136561447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggacatgtcaaacacagCggcggcccctctgcaggcca	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136561447C>T	ENST00000371872.4	-	14	1962	c.1705G>A	c.(1705-1707)Gct>Act	p.A569T	SARDH_ENST00000439388.1_Missense_Mutation_p.A569T|SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000422262.2_Missense_Mutation_p.A401T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	569					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCAAACACAGCGGCGGCCCCT	0.592													False	0	False	9:136561447	0	T	136561447	C	T	136561447	3	4	88	1	0	0	0	0	1	0	0	0	13921	768	27	1	1083	1	SARDH	9	136561447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29581	136561447	4651984	10192	17904											
SARDH	1757	broad.mit.edu	37	chr9	136573457	136573457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccggccagcggctcatcGtgggggaagacgacggagta	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136573457G>A	ENST00000371872.4	-	11	1679	c.1422C>T	c.(1420-1422)caC>caT	p.H474H	SARDH_ENST00000439388.1_Silent_p.H474H|SARDH_ENST00000422262.2_Silent_p.H306H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	474					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGGCTCATCGTGGGGGAAGA	0.662													False	0	False	9:136573457	0	A	136573457	G	A	136573457	2	1	88	1	0	0	0	0	0	0	0	1	13921	1136	40	1		1	SARDH	9	136573457	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12010	136573457	4639974	10193	17905											
SARDH	1757	broad.mit.edu	37	chr9	136594899	136594899	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacctacctgaatcccctcGatgcgctcggtgacgacata	8	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136594899G>A	ENST00000371872.4	-	6	1160	c.903C>T	c.(901-903)atC>atT	p.I301I	SARDH_ENST00000298628.5_Silent_p.I301I|SARDH_ENST00000439388.1_Silent_p.I301I|SARDH_ENST00000371867.1_Silent_p.I212I|SARDH_ENST00000422262.2_Silent_p.I133I	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	301					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GAATCCCCTCGATGCGCTCGG	0.632													False	0	False	9:136594899	0	A	136594899	G	A	136594899	2	1	88	1	0	0	0	0	0	0	0	1	13921	1048	37	1		1	SARDH	9	136594899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21442	136594899	4618532	10194	17906											
BRD3	8019	broad.mit.edu	37	chr9	136901300	136901300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgagattggatgatgTgcactacccggcccagcttc	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136901300T>C	ENST00000303407.7	-	10	1975	c.1790A>G	c.(1789-1791)cAc>cGc	p.H597R	BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	597						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TTGGATGATGTGCACTACCCG	0.587			T	C15orf55	lethal midline carcinoma of young people								False	0	False	9:136901300	0	C	136901300	T	C	136901300	3	2	88	1	0	0	0	0	1	0	0	0	1510	1696	59	4	402	4	BRD3	9	136901300	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	306401	136901300	4312131	10195	17907											
BRD3	8019	broad.mit.edu	37	chr9	136907020	136907020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcgggggcaggcagcgcCggtgcctccacgggctcatc	17	16	1	0	rs141189239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136907020C>T	ENST00000303407.7	-	8	1454	c.1269G>A	c.(1267-1269)ccG>ccA	p.P423P	BRD3_ENST00000357885.2_Silent_p.P423P|BRD3_ENST00000371834.2_Silent_p.P423P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	423						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CAGGCAGCGCCGGTGCCTCCA	0.657			T	C15orf55	lethal midline carcinoma of young people								False	0	False	9:136907020	0	T	136907020	C	T	136907020	2	4	88	1	0	0	0	0	0	0	0	1	1510	639	23	1		1	BRD3	9	136907020	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5720	136907020	4306411	10196	17908											
BRD3	8019	broad.mit.edu	37	chr9	136913346	136913346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccctgaggatgctgtcGcagtagcgtaggtgctccga	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136913346G>A	ENST00000303407.7	-	6	1130	c.945C>T	c.(943-945)tgC>tgT	p.C315C	BRD3_ENST00000357885.2_Silent_p.C315C|BRD3_ENST00000371834.2_Silent_p.C315C	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	315						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGATGCTGTCGCAGTAGCGTA	0.642			T	C15orf55	lethal midline carcinoma of young people								False	0	False	9:136913346	0	A	136913346	G	A	136913346	2	1	88	1	0	0	0	0	0	0	0	1	1510	1079	38	1		1	BRD3	9	136913346	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6326	136913346	4300085	10197	17909											
BRD3	8019	broad.mit.edu	37	chr9	136913496	136913496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttggggtctgacaacggCgggggcgactcactccggct	16	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136913496C>T	ENST00000303407.7	-	6	980	c.795G>A	c.(793-795)ccG>ccA	p.P265P	BRD3_ENST00000357885.2_Silent_p.P265P|BRD3_ENST00000371834.2_Silent_p.P265P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	265						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTGACAACGGCGGGGGCGACT	0.637			T	C15orf55	lethal midline carcinoma of young people								False	0	True	9:136913496	0	T	136913496	C	T	136913496	2	4	88	1	0	0	0	0	0	0	0	1	1510	755	27	1		1	BRD3	9	136913496	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150	136913496	4299935	10198	17910											
BRD3	8019	broad.mit.edu	37	chr9	136917482	136917482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagtcctgcatacattcGcttgcactccaataataatt	5	10	0	1	rs61731642	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136917482G>A	ENST00000303407.7	-	3	482	c.297C>T	c.(295-297)agC>agT	p.S99S	BRD3_ENST00000357885.2_Silent_p.S99S|BRD3_ENST00000371834.2_Silent_p.S99S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	99	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GCATACATTCGCTTGCACTCC	0.373			T	C15orf55	lethal midline carcinoma of young people								False	0	False	9:136917482	0	A	136917482	G	A	136917482	2	1	88	1	0	0	0	0	0	0	0	1	1510	1078	38	1		1	BRD3	9	136917482	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3986	136917482	4295949	10199	17911											
BRD3	8019	broad.mit.edu	37	chr9	136918578	136918578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgggatccccgcgggggCgactgtcgtggcggtggaca	19	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136918578C>T	ENST00000303407.7	-	2	207	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	BRD3_ENST00000357885.2_Missense_Mutation_p.A8T|BRD3_ENST00000371834.2_Missense_Mutation_p.A8T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	8						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CCCGCGGGGGCGACTGTCGTG	0.682			T	C15orf55	lethal midline carcinoma of young people								False	0	True	9:136918578	0	T	136918578	C	T	136918578	3	4	88	1	0	0	0	0	1	0	0	0	1510	768	27	1	2202	1	BRD3	9	136918578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1096	136918578	4294853	10200	17912											
WDR5	11091	broad.mit.edu	37	chr9	137019649	137019649	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggcaaatacatcctggcCgccacgctggacaagtgagt	11	12	0	1	rs140708390	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137019649C>T	ENST00000358625.3	+	10	864	c.693C>T	c.(691-693)gcC>gcT	p.A231A	WDR5_ENST00000425041.1_Silent_p.A231A	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	231					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ACATCCTGGCCGCCACGCTGG	0.617													False	0	False	9:137019649	0	T	137019649	C	T	137019649	2	4	88	1	0	0	0	0	0	0	0	1	17387	639	23	1		1	WDR5	9	137019649	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101071	137019649	4193782	10201	17913											
RXRA	6256	broad.mit.edu	37	chr9	137328346	137328346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctccgcctgccggctctGcgctccatcgggctcaaatg	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137328346G>A	ENST00000540193.1	+	9	1907	c.984G>A	c.(982-984)ctG>ctA	p.L328L	RXRA_ENST00000481739.1_Silent_p.L425L|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	425	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	TGCCGGCTCTGCGCTCCATCG	0.617													False	0	False	9:137328346	0	A	137328346	G	A	137328346	2	1	88	1	0	0	0	0	0	0	0	1	13842	1306	46	2		2	RXRA	9	137328346	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308697	137328346	3885085	10202	17914											
COL5A1	1289	broad.mit.edu	37	chr9	137591908	137591908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctctacgaggaccacaCggggaagcctggcccggaag	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137591908C>T	ENST00000371817.3	+	3	845	c.431C>T	c.(430-432)aCg>aTg	p.T144M	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	144	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGGACCACACGGGGAAGCCT	0.627													False	0	True	9:137591908	0	T	137591908	C	T	137591908	3	4	88	1	0	0	0	0	1	0	0	0	3719	536	19	1	441	1	COL5A1	9	137591908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	263562	137591908	3621523	10203	17915											
COL5A1	1289	broad.mit.edu	37	chr9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaattcgctttcagtacaCggaaggagacggcgagggtg	15	9	1	1	rs148548209		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137620520C>T	ENST00000371817.3	+	6	1205	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	264	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612													False	0	False	9:137620520	0	T	137620520	C	T	137620520	3	4	88	1	0	0	0	0	1	0	0	0	3719	536	19	1	813	1	COL5A1	9	137620520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28612	137620520	3592911	10204	17916											
COL5A1	1289	broad.mit.edu	37	chr9	137623411	137623411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggaaacgatccggaacCttgacgagaactactacgac	10	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137623411C>A	ENST00000371817.3	+	8	1648	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	412	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GATCCGGAACCTTGACGAGAA	0.622													False	0	False	9:137623411	0	A	137623411	C	A	137623411	3	1	88	1	0	0	0	0	1	0	0	0	3719	681	24	3	1264	3	COL5A1	9	137623411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2891	137623411	3590020	10205	17917											
COL5A1	1289	broad.mit.edu	37	chr9	137630615	137630615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccggacctccaggaacCatgggtcccactggccaagt	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137630615C>T	ENST00000371817.3	+	11	1869	c.1455C>T	c.(1453-1455)acC>acT	p.T485T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	485	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCAGGAACCATGGGTCCCA	0.557													False	0	False	9:137630615	0	T	137630615	C	T	137630615	2	4	88	1	0	0	0	0	0	0	0	1	3719	581	21	2		2	COL5A1	9	137630615	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7204	137630615	3582816	10206	17918											
COL5A1	1289	broad.mit.edu	37	chr9	137630649	137630649	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccaagtcggggaccctggaGaaagggtaagaggttgactg	17	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137630649G>T	ENST00000371817.3	+	11	1903	c.1489G>T	c.(1489-1491)Gaa>Taa	p.E497*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	497	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGACCCTGGAGAAAGGGTAAG	0.572													False	0	True	9:137630649	0	T	137630649	G	T	137630649	4	4	88	1	0	0	0	0	0	1	0	0	3719	943	33	3	1531	3	COL5A1	9	137630649	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	137630649	3582782	10207	17919											
COL5A1	1289	broad.mit.edu	37	chr9	137653790	137653790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgaccctggtccttccgGcccaccaggacctccgggag	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137653790G>A	ENST00000371817.3	+	19	2369	c.1955G>A	c.(1954-1956)gGc>gAc	p.G652D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	652	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGTCCTTCCGGCCCACCAGGA	0.577													False	0	True	9:137653790	0	A	137653790	G	A	137653790	3	1	88	1	0	0	0	0	1	0	0	0	3719	1203	42	2	2029	2	COL5A1	9	137653790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23141	137653790	3559641	10208	17920											
COL5A1	1289	broad.mit.edu	37	chr9	137653805	137653805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccggcccaccaggacctcCgggagacgatggagaaaggg	15	12	0	2	rs149912828		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137653805C>T	ENST00000371817.3	+	19	2384	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	657	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGGACCTCCGGGAGACGAT	0.597													False	0	True	9:137653805	0	T	137653805	C	T	137653805	3	4	88	1	0	0	0	0	1	0	0	0	3719	652	23	1	2044	1	COL5A1	9	137653805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	137653805	3559626	10209	17921											
COL5A1	1289	broad.mit.edu	37	chr9	137671958	137671958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgcacagggggccgatgGcatccgtggtctgaagggca	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137671958G>A	ENST00000371817.3	+	28	2810	c.2396G>A	c.(2395-2397)gGc>gAc	p.G799D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	799	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGGCCGATGGCATCCGTGGT	0.597													False	0	False	9:137671958	0	A	137671958	G	A	137671958	3	1	88	1	0	0	0	0	1	0	0	0	3719	1203	42	2	2506	2	COL5A1	9	137671958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18153	137671958	3541473	10210	17922											
COL5A1	1289	broad.mit.edu	37	chr9	137703363	137703363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacggcgagccggggcctcGgggccagcagggccttttcg	18	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137703363G>A	ENST00000371817.3	+	46	4022	c.3608G>A	c.(3607-3609)cGg>cAg	p.R1203Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1203	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCGGGGCCTCGGGGCCAGCAG	0.652											OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	9:137703363	0	A	137703363	G	A	137703363	3	1	88	1	0	0	0	0	1	0	0	0	3719	1116	39	1	3790	1	COL5A1	9	137703363	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31405	137703363	3510068	10211	17923											
COL5A1	1289	broad.mit.edu	37	chr9	137710721	137710721	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggtctcccaggatccccaGgcccggacggtccccccggc	12	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137710721G>T	ENST00000371817.3	+	56	4780	c.4366G>T	c.(4366-4368)Ggc>Tgc	p.G1456C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1456	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGATCCCCAGGCCCGGACGG	0.632													False	0	False	9:137710721	0	T	137710721	G	T	137710721	3	4	88	1	0	0	0	0	1	0	0	0	3719	1000	35	3	4588	3	COL5A1	9	137710721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7358	137710721	3502710	10212	17924											
COL5A1	1289	broad.mit.edu	37	chr9	137715277	137715277	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagggtccaactggcccgAagggtgaggcaggccaccca	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137715277A>G	ENST00000371817.3	+	61	5074	c.4660A>G	c.(4660-4662)Aag>Gag	p.K1554E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1554	Triple-helical region.			K -> R (in Ref. 1; BAA14323).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AACTGGCCCGAAGGGTGAGGC	0.597													False	0	False	9:137715277	0	G	137715277	A	G	137715277	3	3	88	1	0	0	0	0	1	0	0	0	3719	247	9	4	4902	4	COL5A1	9	137715277	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4556	137715277	3498154	10213	17925											
COL5A1	1289	broad.mit.edu	37	chr9	137727028	137727028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaacaacccctacatccGcgccctggtggacggctgtg	11	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137727028G>A	ENST00000371817.3	+	65	5762	c.5348G>A	c.(5347-5349)cGc>cAc	p.R1783H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1783	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTACATCCGCGCCCTGGTG	0.667													False	0	False	9:137727028	0	A	137727028	G	A	137727028	3	1	88	1	0	0	0	0	1	0	0	0	3719	1087	38	1	5606	1	COL5A1	9	137727028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11751	137727028	3486403	10214	17926											
FCN2	2220	broad.mit.edu	37	chr9	137772718	137772718	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcgctgccaccctgctgctCtctttcctgggcatggcctg	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137772718C>A	ENST00000350339.2	+	1	65	c.51C>A	c.(49-51)ctC>ctA	p.L17L	FCN2_ENST00000291744.6_Silent_p.L17L	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	17					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CCCTGCTGCTCTCTTTCCTGG	0.607													False	0	True	9:137772718	0	A	137772718	C	A	137772718	2	1	88	1	0	0	0	0	0	0	0	1	5832	900	32	3		3	FCN2	9	137772718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45690	137772718	3440713	10215	17927											
FCN2	2220	broad.mit.edu	37	chr9	137777195	137777195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctctgtgacatggacacgGacggagggggctggaccgtg	18	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137777195G>A	ENST00000350339.2	+	4	312	c.298G>A	c.(298-300)Gac>Aac	p.D100N	FCN2_ENST00000291744.6_Missense_Mutation_p.D138N	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	138	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CATGGACACGGACGGAGGGGG	0.667													False	0	True	9:137777195	0	A	137777195	G	A	137777195	3	1	88	1	0	0	0	0	1	0	0	0	5832	1174	41	2	430	2	FCN2	9	137777195	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4477	137777195	3436236	10216	17928											
FCN1	2219	broad.mit.edu	37	chr9	137801699	137801699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctatatttgtaccccttcGccgcactccagttgatacca	6	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137801699G>A	ENST00000371806.3	-	9	1017	c.926C>T	c.(925-927)gCg>gTg	p.A309V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	309	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GTACCCCTTCGCCGCACTCCA	0.577													False	0	False	9:137801699	0	A	137801699	G	A	137801699	3	1	88	1	0	0	0	0	1	0	0	0	5831	1087	38	1	58	1	FCN1	9	137801699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24504	137801699	3411732	10217	17929											
FCN1	2219	broad.mit.edu	37	chr9	137804960	137804960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctcaggaaatacccccGgtctagcaggtccttgcagt	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137804960G>A	ENST00000371806.3	-	6	461	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	124	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AAATACCCCCGGTCTAGCAGG	0.682													False	0	True	9:137804960	0	A	137804960	G	A	137804960	3	1	88	1	0	0	0	0	1	0	0	0	5831	1115	39	1	626	1	FCN1	9	137804960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3261	137804960	3408471	10218	17930											
OLFM1	10439	broad.mit.edu	37	chr9	137990133	137990133	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttattttaaccttgcaggCgataaaagcgaaaatggatg	10	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137990133C>T	ENST00000252854.4	+	4	591	c.404C>T	c.(403-405)gCg>gTg	p.A135V	OLFM1_ENST00000371793.3_Splice_Site_p.A153V|OLFM1_ENST00000371796.3_Splice_Site_p.A126V	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	153					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ACCTTGCAGGCGATAAAAGCG	0.468													False	0	False	9:137990133	0	T	137990133	C	T	137990133	5	4	88	1	0	0	0	0	0	0	1	0	10920	782	27	1	428	1	OLFM1	9	137990133	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185173	137990133	3223298	10219	17931											
OLFM1	10439	broad.mit.edu	37	chr9	137998692	137998692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccctctcgcccctgaaggCgataaccgggtgagtgtccc	12	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137998692C>T	ENST00000252854.4	+	5	907	c.720C>T	c.(718-720)ggC>ggT	p.G240G	OLFM1_ENST00000371793.3_Silent_p.G258G|OLFM1_ENST00000371796.3_Silent_p.G231G	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	258	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCCCTGAAGGCGATAACCGGG	0.617													False	0	False	9:137998692	0	T	137998692	C	T	137998692	2	4	88	1	0	0	0	0	0	0	0	1	10920	755	27	1		1	OLFM1	9	137998692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8559	137998692	3214739	10220	17932											
MRPS2	51116	broad.mit.edu	37	chr9	138392846	138392846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatctacttccccccaggtGcccgggccccgtcgcgctgg	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138392846G>A	ENST00000371785.1	+	3	255	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_Intron|MRPS2_ENST00000241600.5_Missense_Mutation_p.A16T			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	16					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCCCCCAGGTGCCCGGGCCCC	0.716													False	0	True	9:138392846	0	A	138392846	G	A	138392846	3	1	88	1	0	0	0	0	1	0	0	0	9898	1319	46	2	52	2	MRPS2	9	138392846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	394154	138392846	2820585	10221	17933											
MRPS2	51116	broad.mit.edu	37	chr9	138395463	138395463	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaacagacagccacgcacctCcagctggccttgaacttcac	8	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138395463C>T	ENST00000371785.1	+	5	584	c.375C>T	c.(373-375)ctC>ctT	p.L125L	RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Silent_p.L125L			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	125					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCACGCACCTCCAGCTGGCCT	0.567													False	0	False	9:138395463	0	T	138395463	C	T	138395463	2	4	88	1	0	0	0	0	0	0	0	1	9898	842	30	2		2	MRPS2	9	138395463	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2617	138395463	2817968	10222	17934											
MRPS2	51116	broad.mit.edu	37	chr9	138395608	138395608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactcgctacttcaggggcGgcatgctgaccaacgcgcgc	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138395608G>A	ENST00000371785.1	+	5	729	c.520G>A	c.(520-522)Ggc>Agc	p.G174S	RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.G174S			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	174					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CTTCAGGGGCGGCATGCTGAC	0.582													False	0	False	9:138395608	0	A	138395608	G	A	138395608	3	1	88	1	0	0	0	0	1	0	0	0	9898	1116	39	1	534	1	MRPS2	9	138395608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145	138395608	2817823	10223	17935											
OBP2A	29991	broad.mit.edu	37	chr9	138440528	138440528	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgccgctgtccccaccttGgctcacctggccacctcacc	8	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138440528G>A	ENST00000340780.3	+	5	470	c.428G>A	c.(427-429)tGg>tAg	p.W143*	OBP2A_ENST00000371776.1_Intron|OBP2A_ENST00000342114.4_Silent_p.L98L|OBP2A_ENST00000539850.1_Intron			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	0					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TCCCCACCTTGGCTCACCTGG	0.597													False	0	False	9:138440528	0	A	138440528	G	A	138440528	4	1	88	1	0	0	0	0	0	1	0	0	10878	1363	47	2		2	OBP2A	9	138440528	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44920	138440528	2772903	10224	17936											
GLT6D1	360203	broad.mit.edu	37	chr9	138516029	138516029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgatgtcatgaataactcCgttcagatattctttgatga	7	6	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138516029C>T	ENST00000371763.1	-	5	998	c.745G>A	c.(745-747)Gga>Aga	p.G249R		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	249					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TGAATAACTCCGTTCAGATAT	0.383													False	0	False	9:138516029	0	T	138516029	C	T	138516029	3	4	88	1	0	0	0	0	1	0	0	0	6513	661	23	1	89	1	GLT6D1	9	138516029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75501	138516029	2697402	10225	17937											
GLT6D1	360203	broad.mit.edu	37	chr9	138516299	138516299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcctggatgtgactggCgatgtgttcacccaggctct	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138516299C>T	ENST00000371763.1	-	5	728	c.475G>A	c.(475-477)Gcc>Acc	p.A159T		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	159					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.A159T(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ATGTGACTGGCGATGTGTTCA	0.592													False	0	False	9:138516299	0	T	138516299	C	T	138516299	3	4	88	1	0	0	0	0	1	0	0	0	6513	768	27	1	359	1	GLT6D1	9	138516299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	270	138516299	2697132	10226	17938											
GLT6D1	360203	broad.mit.edu	37	chr9	138517963	138517963	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtgatattccgccttctgTaatgtttttccaggacccgc	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138517963T>C	ENST00000371763.1	-	4	462	c.209A>G	c.(208-210)tAc>tGc	p.Y70C		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	70					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCGCCTTCTGTAATGTTTTTC	0.498													False	0	False	9:138517963	0	C	138517963	T	C	138517963	3	2	88	1	0	0	0	0	1	0	0	0	6513	1638	57	4	629	4	GLT6D1	9	138517963	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1664	138517963	2695468	10227	17939											
LCN9	392399	broad.mit.edu	37	chr9	138557549	138557549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagatttgaagaaacctgCgaaaagtacggacttggctc	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138557549C>T	ENST00000277526.3	+	5	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	142						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AAGAAACCTGCGAAAAGTACG	0.572													False	0	False	9:138557549	0	T	138557549	C	T	138557549	2	4	88	1	0	0	0	0	0	0	0	1	8738	776	27	1		1	LCN9	9	138557549	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39586	138557549	2655882	10228	17940											
LCN9	392399	broad.mit.edu	37	chr9	138557746	138557746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacaggagcccgcccaggcCtcccatgcgtgagctgcgac	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138557746C>T	ENST00000277526.3	+	6	515	c.515C>T	c.(514-516)cCt>cTt	p.P172L	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	172						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		CCGCCCAGGCCTCCCATGCGT	0.687													False	0	False	9:138557746	0	T	138557746	C	T	138557746	3	4	88	1	0	0	0	0	1	0	0	0	8738	681	24	2	537	2	LCN9	9	138557746	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197	138557746	2655685	10229	17941											
SOHLH1	402381	broad.mit.edu	37	chr9	138586218	138586218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggaccagccctgaaccCagggccccactcacccggcc	13	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138586218C>T	ENST00000298466.5	-	7	1021	c.961G>A	c.(961-963)Ggg>Agg	p.G321R	SOHLH1_ENST00000425225.1_Intron	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	321					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCCTGAACCCAGGGCCCCAC	0.647													False	0	True	9:138586218	0	T	138586218	C	T	138586218	3	4	88	1	0	0	0	0	1	0	0	0	15003	594	21	2	251	2	SOHLH1	9	138586218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28472	138586218	2627213	10230	17942											
KCNT1	57582	broad.mit.edu	37	chr9	138650335	138650335	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctcttctgcaccctgCtgtgcctcgttttcacgggg	9	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138650335C>A	ENST00000298480.5	+	10	909	c.835C>A	c.(835-837)Ctg>Atg	p.L279M	KCNT1_ENST00000487664.1_Missense_Mutation_p.L231M|KCNT1_ENST00000491806.2_Missense_Mutation_p.L246M|KCNT1_ENST00000490355.2_Missense_Mutation_p.L260M|KCNT1_ENST00000371757.2_Missense_Mutation_p.L279M|KCNT1_ENST00000263604.3_Missense_Mutation_p.L260M|KCNT1_ENST00000488444.2_Missense_Mutation_p.L260M|KCNT1_ENST00000486577.2_Missense_Mutation_p.L240M			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	279						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTGCACCCTGCTGTGCCTCGT	0.627													False	0	False	9:138650335	0	A	138650335	C	A	138650335	3	1	88	1	0	0	0	0	1	0	0	0	8141	796	28	3	873	3	KCNT1	9	138650335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64117	138650335	2563096	10231	17943											
KCNT1	57582	broad.mit.edu	37	chr9	138662175	138662175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtctccggagcagtggcagCgcatgtatgggcgctgctcc	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138662175C>T	ENST00000298480.5	+	17	1725	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	KCNT1_ENST00000487664.1_Missense_Mutation_p.R506C|KCNT1_ENST00000491806.2_Missense_Mutation_p.R518C|KCNT1_ENST00000490355.2_Missense_Mutation_p.R532C|KCNT1_ENST00000371757.2_Missense_Mutation_p.R551C|KCNT1_ENST00000263604.3_Missense_Mutation_p.R532C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R532C|KCNT1_ENST00000486577.2_Missense_Mutation_p.R512C			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	551						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCAGTGGCAGCGCATGTATGG	0.677													False	0	False	9:138662175	0	T	138662175	C	T	138662175	3	4	88	1	0	0	0	0	1	0	0	0	8141	768	27	1	1717	1	KCNT1	9	138662175	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11840	138662175	2551256	10232	17944											
KCNT1	57582	broad.mit.edu	37	chr9	138669337	138669337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggagctgaaccccatcGtgctgctgctggacaacaag	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138669337G>A	ENST00000298480.5	+	21	2577	c.2503G>A	c.(2503-2505)Gtg>Atg	p.V835M	KCNT1_ENST00000487664.1_Missense_Mutation_p.V790M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V802M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V814M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V835M|KCNT1_ENST00000263604.3_Missense_Mutation_p.V816M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V816M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V794M			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	835						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GAACCCCATCGTGCTGCTGCT	0.657													False	0	True	9:138669337	0	A	138669337	G	A	138669337	3	1	88	1	0	0	0	0	1	0	0	0	8141	1145	40	1	2585	1	KCNT1	9	138669337	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7162	138669337	2544094	10233	17945											
CAMSAP1	157922	broad.mit.edu	37	chr9	138712706	138712706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagaagaagccgaccccCggcttctggtcgccttcgct	11	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138712706C>T	ENST00000389532.4	-	11	3865	c.3801G>A	c.(3799-3801)ccG>ccA	p.P1267P	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.P989P|CAMSAP1_ENST00000409386.3_Silent_p.P1278P	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1267						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGCCGACCCCCGGCTTCTGGT	0.572													False	0	True	9:138712706	0	T	138712706	C	T	138712706	2	4	88	1	0	0	0	0	0	0	0	1	2631	639	23	1		1	CAMSAP1	9	138712706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43369	138712706	2500725	10234	17946											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714511	138714511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgacagtggtcctgtctCggtggggtcgatgcccatgg	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138714511C>T	ENST00000389532.4	-	11	2060	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E388K|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E677K	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	666						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGTCCTGTCTCGGTGGGGTCG	0.582													False	0	False	9:138714511	0	T	138714511	C	T	138714511	3	4	88	1	0	0	0	0	1	0	0	0	2631	893	31	1	2840	1	CAMSAP1	9	138714511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1805	138714511	2498920	10235	17947											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714825	138714825	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaaggcccggggtgaggccCtggggaactccgggtcagcc	17	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138714825C>A	ENST00000389532.4	-	11	1746	c.1682G>T	c.(1681-1683)aGg>aTg	p.R561M	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R283M|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R572M	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	561						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGGTGAGGCCCTGGGGAACTC	0.567													False	0	True	9:138714825	0	A	138714825	C	A	138714825	3	1	88	1	0	0	0	0	1	0	0	0	2631	681	24	3	3154	3	CAMSAP1	9	138714825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	314	138714825	2498606	10236	17948											
NACC2	138151	broad.mit.edu	37	chr9	138905137	138905137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcagctgttggccagcGtgttcctggtggagggaccg	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138905137G>A	ENST00000371753.1	-	4	1221	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	NACC2_ENST00000277554.2_Missense_Mutation_p.T388M			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	388	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						GTTGGCCAGCGTGTTCCTGGT	0.667													False	0	False	9:138905137	0	A	138905137	G	A	138905137	3	1	88	1	0	0	0	0	1	0	0	0	10203	1145	40	1	608	1	NACC2	9	138905137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190312	138905137	2308294	10237	17949											
C9orf69	90120	broad.mit.edu	37	chr9	139008678	139008678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgcacgggcccgcaggcCgcatgcaggcaggtggtgtg	19	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139008678C>T	ENST00000561457.1	-	2	593	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	C9orf69_ENST00000418388.1_Silent_p.A23A	NM_152833.2	NP_690046.3			chromosome 9 open reading frame 69											endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GCCCGCAGGCCGCATGCAGGC	0.701													False	0	False	9:139008678	0	T	139008678	C	T	139008678	3	4	88	1	0	0	0	0	1	0	0	0	2512	652	23	1	268	1	C9orf69	9	139008678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103541	139008678	2204753	10238	17950											
LHX3	8022	broad.mit.edu	37	chr9	139090800	139090800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcggacgagagctgctcgCgcacgtggcgcgccggcttg	16	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139090800C>T	ENST00000371746.3	-	4	693	c.575G>A	c.(574-576)cGc>cAc	p.R192H	LHX3_ENST00000371748.5_Missense_Mutation_p.R187H	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	187					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GAGCTGCTCGCGCACGTGGCG	0.726													False	0	False	9:139090800	0	T	139090800	C	T	139090800	3	4	88	1	0	0	0	0	1	0	0	0	8824	768	27	1	645	1	LHX3	9	139090800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82122	139090800	2122631	10239	17951											
LHX3	8022	broad.mit.edu	37	chr9	139091657	139091657	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggtggtacacgaagtcCtgggcgcggcgcaccacctg	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139091657C>A	ENST00000371746.3	-	3	454	c.336G>T	c.(334-336)caG>caT	p.Q112H	LHX3_ENST00000371748.5_Missense_Mutation_p.Q107H	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	107	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		ACACGAAGTCCTGGGCGCGGC	0.706													False	0	False	9:139091657	0	A	139091657	C	A	139091657	3	1	88	1	0	0	0	0	1	0	0	0	8824	680	24	3	888	3	LHX3	9	139091657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	857	139091657	2121774	10240	17952											
QSOX2	169714	broad.mit.edu	37	chr9	139100954	139100954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggaatccccctggtctgCggaatacgtgtctaagaggt	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139100954C>T	ENST00000358701.5	-	12	1754	c.1717G>A	c.(1717-1719)Gca>Aca	p.A573T		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	573					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CCCTGGTCTGCGGAATACGTG	0.572													False	0	False	9:139100954	0	T	139100954	C	T	139100954	3	4	88	1	0	0	0	0	1	0	0	0	12963	768	27	1	383	1	QSOX2	9	139100954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9297	139100954	2112477	10241	17953											
GPSM1	26086	broad.mit.edu	37	chr9	139229123	139229123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcatgacctcctgctggcGcggtgagtggggacggtcct	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139229123G>A	ENST00000440944.1	+	2	508	c.288G>A	c.(286-288)gcG>gcA	p.A96A	GPSM1_ENST00000392945.3_Silent_p.A96A	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	96	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TCCTGCTGGCGCGGTGAGTGG	0.682													False	0	False	9:139229123	0	A	139229123	G	A	139229123	2	1	88	1	0	0	0	0	0	0	0	1	6781	1074	38	1		1	GPSM1	9	139229123	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128169	139229123	1984308	10242	17954											
GPSM1	26086	broad.mit.edu	37	chr9	139243186	139243186	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgcagaggctgagcgcggaGacctgggacctgctgagact	16	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139243186G>A	ENST00000440944.1	+	10	1465	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E		NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	415	Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TGAGCGCGGAGACCTGGGACC	0.677													False	0	False	9:139243186	0	A	139243186	G	A	139243186	2	1	88	1	0	0	0	0	0	0	0	1	6781	933	33	2		2	GPSM1	9	139243186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14063	139243186	1970245	10243	17955											
DNLZ	728489	broad.mit.edu	37	chr9	139256578	139256578	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagttccagggccccctcGcccgccacacggtgcacctg	10	20	0	0	rs144760803		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139256578G>A	ENST00000371739.3	-	2	287	c.283C>T	c.(283-285)Cga>Tga	p.R95*	DNLZ_ENST00000371738.3_Silent_p.G141G			Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	0							metal ion binding			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		GGGCCCCCTCGCCCGCCACAC	0.682													False	0	True	9:139256578	0	A	139256578	G	A	139256578	4	1	88	1	0	0	0	0	0	1	0	0	4699	1074	38	1	117	1	DNLZ	9	139256578	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13392	139256578	1956853	10244	17956											
CARD9	64170	broad.mit.edu	37	chr9	139262245	139262245	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctgcaggccccgggcGtgctgtgcgtgcagctcctc	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139262245G>A	ENST00000371732.5	-	8	1278	c.1113C>T	c.(1111-1113)caC>caT	p.H371H	CARD9_ENST00000371734.3_Silent_p.H371H	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	371					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GGCCCCGGGCGTGCTGTGCGT	0.706													False	0	False	9:139262245	0	A	139262245	G	A	139262245	2	1	88	1	0	0	0	0	0	0	0	1	2672	1136	40	1		1	CARD9	9	139262245	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5667	139262245	1951186	10245	17957											
CARD9	64170	broad.mit.edu	37	chr9	139264220	139264220	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggtcccgctcaatggcGacctcctccatctgcagcag	9	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139264220G>A	ENST00000371732.5	-	7	1224	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	CARD9_ENST00000371734.3_Silent_p.V353V|CARD9_ENST00000315908.7_Silent_p.V353V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	353					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCTCAATGGCGACCTCCTCCA	0.627													False	0	False	9:139264220	0	A	139264220	G	A	139264220	2	1	88	1	0	0	0	0	0	0	0	1	2672	1045	37	1		1	CARD9	9	139264220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1975	139264220	1949211	10246	17958											
CARD9	64170	broad.mit.edu	37	chr9	139265005	139265005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctccagctcctgcacccggGcctggagcagggccttctcc	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139265005G>T	ENST00000371732.5	-	5	941	c.776C>A	c.(775-777)gCc>gAc	p.A259D	CARD9_ENST00000371734.3_Missense_Mutation_p.A259D|CARD9_ENST00000315908.7_Missense_Mutation_p.A259D	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	259					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CTGCACCCGGGCCTGGAGCAG	0.711													False	0	True	9:139265005	0	T	139265005	G	T	139265005	3	4	88	1	0	0	0	0	1	0	0	0	2672	1203	42	3	923	3	CARD9	9	139265005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	785	139265005	1948426	10247	17959											
SNAPC4	6621	broad.mit.edu	37	chr9	139283031	139283031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcaggcactggaaggCgctgcggctggtcttcccag	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139283031C>T	ENST00000298532.2	-	10	1356	c.988G>A	c.(988-990)Gcc>Acc	p.A330T		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	330	HTH myb-type 1.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CACTGGAAGGCGCTGCGGCTG	0.592													False	0	False	9:139283031	0	T	139283031	C	T	139283031	3	4	88	1	0	0	0	0	1	0	0	0	14917	768	27	1	3473	1	SNAPC4	9	139283031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18026	139283031	1930400	10248	17960											
SNAPC4	6621	broad.mit.edu	37	chr9	139286432	139286432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgccactccaggtggcCgtgtgcagccgcgatcgcct	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139286432C>T	ENST00000298532.2	-	9	1305	c.937G>A	c.(937-939)Ggc>Agc	p.G313S		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	313	HTH myb-type 1.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TCCAGGTGGCCGTGTGCAGCC	0.662													False	0	False	9:139286432	0	T	139286432	C	T	139286432	3	4	88	1	0	0	0	0	1	0	0	0	14917	652	23	1	3528	1	SNAPC4	9	139286432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3401	139286432	1926999	10249	17961											
PMPCA	23203	broad.mit.edu	37	chr9	139309012	139309012	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcttccagagacaccAccatgtatgctgtgtctgct	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139309012A>G	ENST00000371717.3	+	5	454	c.445A>G	c.(445-447)Acc>Gcc	p.T149A	PMPCA_ENST00000371720.1_Intron|PMPCA_ENST00000399219.3_Intron	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	149					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CAGAGACACCACCATGTATGC	0.562													False	0	False	9:139309012	0	G	139309012	A	G	139309012	3	3	88	1	0	0	0	0	1	0	0	0	12209	159	6	4	463	4	PMPCA	9	139309012	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22580	139309012	1904419	10250	17962											
PMPCA	23203	broad.mit.edu	37	chr9	139313360	139313360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatccatgccagcgccgAcccaagacaggtgagggccc	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139313360A>G	ENST00000371717.3	+	10	1199	c.1190A>G	c.(1189-1191)gAc>gGc	p.D397G	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.D266G	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	397					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCCAGCGCCGACCCAAGACAG	0.652													False	0	True	9:139313360	0	G	139313360	A	G	139313360	3	3	88	1	0	0	0	0	1	0	0	0	12209	275	10	4	1228	4	PMPCA	9	139313360	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4348	139313360	1900071	10251	17963											
PMPCA	23203	broad.mit.edu	37	chr9	139316336	139316337	+	Frame_Shift_Ins	INS	-	-	AAGAAAGGGAA													tcaatgctcatgatgaacctINSggaatccaggcctgtgatct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139316336_139316337insAAGAAAGGGAA	ENST00000371717.3	+	12	1325_1326	c.1316_1317insAAGAAAGGGAA	c.(1315-1320)ctggaafs	p.E440fs	PMPCA_ENST00000399219.3_Frame_Shift_Ins_p.E309fs	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	440					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		ATGATGAACCTGGAATCCAGGC	0.624													False	0	False	9:139316336	0	AAGAAAGGGAA	139316337	-	AAGAAAGGGAA	139316336	7	5	88	1	0	1	1	0	0	0	0	0	12209	1580	55	0	1362	0	PMPCA	9	139316336	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	2976	139316336	1897095	10252	17964											
INPP5E	56623	broad.mit.edu	37	chr9	139324245	139324245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctctatcaaatttgccaGctgccaacggaatgctgtgg	10	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139324245G>T	ENST00000371712.3	-	10	2219	c.1817C>A	c.(1816-1818)gCt>gAt	p.A606D		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	606						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AAATTTGCCAGCTGCCAACGG	0.582													False	0	False	9:139324245	0	T	139324245	G	T	139324245	3	4	88	1	0	0	0	0	1	0	0	0	7807	971	34	3	121	3	INPP5E	9	139324245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7909	139324245	1889186	10253	17965											
INPP5E	56623	broad.mit.edu	37	chr9	139325493	139325493	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttggaggtgctgtcgtaCgtgtccttcccgatgtcaaa	12	10	1	0	rs150464071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139325493C>T	ENST00000371712.3	-	8	2028	c.1626G>A	c.(1624-1626)acG>acA	p.T542T		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	542						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TGCTGTCGTACGTGTCCTTCC	0.617													False	0	False	9:139325493	0	T	139325493	C	T	139325493	2	4	88	1	0	0	0	0	0	0	0	1	7807	523	19	1		1	INPP5E	9	139325493	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1248	139325493	1887938	10254	17966											
INPP5E	56623	broad.mit.edu	37	chr9	139333311	139333311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggcgcgggggcagcagGctgggcagcctgggcgagct	23	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139333311G>A	ENST00000371712.3	-	1	963	c.561C>T	c.(559-561)agC>agT	p.S187S		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	187	13 X 4 AA repeats of P-X-X-P.					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGGCAGCAGGCTGGGCAGCC	0.697													False	0	False	9:139333311	0	A	139333311	G	A	139333311	2	1	88	1	0	0	0	0	0	0	0	1	7807	1194	42	2		2	INPP5E	9	139333311	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7818	139333311	1880120	10255	17967											
SEC16A	9919	broad.mit.edu	37	chr9	139341761	139341761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagcgagagccggctcGctccgctgggtcccgcttgg	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139341761G>A	ENST00000313050.7	-	25	6688	c.6615C>T	c.(6613-6615)agC>agT	p.S2205S	SEC16A_ENST00000371706.3_Silent_p.S2027S|SEC16A_ENST00000290037.6_Silent_p.S2027S|SEC16A_ENST00000313084.5_Silent_p.S211S|SEC16A_ENST00000431893.2_Silent_p.S2027S|SEC16A_ENST00000398335.1_3'UTR	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2027					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGCCGGCTCGCTCCGCTGGG	0.617													False	0	True	9:139341761	0	A	139341761	G	A	139341761	2	1	88	1	0	0	0	0	0	0	0	1	14067	1078	38	1		1	SEC16A	9	139341761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8450	139341761	1871670	10256	17968											
SEC16A	9919	broad.mit.edu	37	chr9	139357393	139357393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcggtctctctctcgagCgagctggcggcagccgccgg	14	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139357393C>T	ENST00000313050.7	-	10	4912	c.4839G>A	c.(4837-4839)tcG>tcA	p.S1613S	SEC16A_ENST00000371706.3_Silent_p.S1435S|SEC16A_ENST00000290037.6_Silent_p.S1435S|SEC16A_ENST00000431893.2_Silent_p.S1435S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1435					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTCTCTCGAGCGAGCTGGCGG	0.607													False	0	True	9:139357393	0	T	139357393	C	T	139357393	2	4	88	1	0	0	0	0	0	0	0	1	14067	755	27	1		1	SEC16A	9	139357393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15632	139357393	1856038	10257	17969											
SEC16A	9919	broad.mit.edu	37	chr9	139368891	139368891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctggggtggcaccagctcCtgctgggctctttcgaggcc	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139368891C>A	ENST00000313050.7	-	1	3250	c.3177G>T	c.(3175-3177)caG>caT	p.Q1059H	SEC16A_ENST00000371706.3_Missense_Mutation_p.Q881H|SEC16A_ENST00000290037.6_Missense_Mutation_p.Q881H|SEC16A_ENST00000431893.2_Missense_Mutation_p.Q881H	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	881	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCACCAGCTCCTGCTGGGCTC	0.587													False	0	False	9:139368891	0	A	139368891	C	A	139368891	3	1	88	1	0	0	0	0	1	0	0	0	14067	680	24	3	4016	3	SEC16A	9	139368891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11498	139368891	1844540	10258	17970											
SEC16A	9919	broad.mit.edu	37	chr9	139371010	139371010	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacagccagacccggccccaGcccccagtgggtggtgcgta	13	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139371010G>T	ENST00000313050.7	-	1	1131	c.1058C>A	c.(1057-1059)gCt>gAt	p.A353D	SEC16A_ENST00000371706.3_Missense_Mutation_p.A175D|SEC16A_ENST00000290037.6_Missense_Mutation_p.A175D|SEC16A_ENST00000431893.2_Missense_Mutation_p.A175D	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	175					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCGGCCCCAGCCCCCAGTGG	0.602													False	0	True	9:139371010	0	T	139371010	G	T	139371010	3	4	88	1	0	0	0	0	1	0	0	0	14067	971	34	3	6135	3	SEC16A	9	139371010	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2119	139371010	1842421	10259	17971											
SEC16A	9919	broad.mit.edu	37	chr9	139371882	139371882	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcccagtggtgtactttgGagcgcctgtctactaaaagc	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139371882G>A	ENST00000313050.7	-	1	259	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2026					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTGTACTTTGGAGCGCCTGTC	0.562													False	0	False	9:139371882	0	A	139371882	G	A	139371882	2	1	88	1	0	0	0	0	0	0	0	1	14067	1161	41	2		2	SEC16A	9	139371882	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	872	139371882	1841549	10260	17972											
NOTCH1	4851	broad.mit.edu	37	chr9	139390585	139390585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgggagggctggagaCgccctcggaccagtcggaga	19	10	0	2	rs111627256	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139390585C>T	ENST00000277541.6	-	34	7681	c.7606G>A	c.(7606-7608)Gtc>Atc	p.V2536I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2536					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.V2537I(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGCTGGAGACGCCCTCGGAC	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			False	0	False	9:139390585	0	T	139390585	C	T	139390585	3	4	88	1	0	0	0	0	1	0	0	0	10615	536	19	1	65	1	NOTCH1	9	139390585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18703	139390585	1822846	10261	17973											
NOTCH1	4851	broad.mit.edu	37	chr9	139391776	139391776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagccgttgggcgagcagaGcgggggcgacagggtgggcg	23	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139391776G>A	ENST00000277541.6	-	34	6490	c.6415C>T	c.(6415-6417)Ctc>Ttc	p.L2139F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2139					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGAGCAGAGCGGGGGCGAC	0.692			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			False	0	False	9:139391776	0	A	139391776	G	A	139391776	3	1	88	1	0	0	0	0	1	0	0	0	10615	971	34	2	1256	2	NOTCH1	9	139391776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1191	139391776	1821655	10262	17974											
NOTCH1	4851	broad.mit.edu	37	chr9	139391890	139391890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgcatgcgctcctgtgCgatgtcgcgcggcaggcggt	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139391890C>T	ENST00000277541.6	-	34	6376	c.6301G>A	c.(6301-6303)Gca>Aca	p.A2101T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2101					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCTCCTGTGCGATGTCGCGC	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			False	0	False	9:139391890	0	T	139391890	C	T	139391890	3	4	88	1	0	0	0	0	1	0	0	0	10615	768	27	1	1370	1	NOTCH1	9	139391890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114	139391890	1821541	10263	17975											
NOTCH1	4851	broad.mit.edu	37	chr9	139395286	139395286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggaggcgatcatgagCggggtgaagccatctgcaga	16	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139395286C>T	ENST00000277541.6	-	31	5727	c.5652G>A	c.(5650-5652)ccG>ccA	p.P1884P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1884					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGATCATGAGCGGGGTGAAGC	0.692			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			False	0	True	9:139395286	0	T	139395286	C	T	139395286	2	4	88	1	0	0	0	0	0	0	0	1	10615	755	27	1		1	NOTCH1	9	139395286	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3396	139395286	1818145	10264	17976											
NOTCH1	4851	broad.mit.edu	37	chr9	139397682	139397682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgaggctgcccagcgaggCgagcgctcccaggaatgcgg	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139397682C>T	ENST00000277541.6	-	27	5194	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1707					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCAGCGAGGCGAGCGCTCCC	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			False	0	True	9:139397682	0	T	139397682	C	T	139397682	3	4	88	1	0	0	0	0	1	0	0	0	10615	768	27	1	2580	1	NOTCH1	9	139397682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2396	139397682	1815749	10265	17977											
NOTCH1	4851	broad.mit.edu	37	chr9	139405693	139405693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcaggggctgggggcaCacggggccagcaccacctca	15	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139405693C>T	ENST00000277541.6	-	16	2573	c.2498G>A	c.(2497-2499)tGt>tAt	p.C833Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	833	EGF-like 22.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGGGGCACACGGGGCCAG	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			False	0	False	9:139405693	0	T	139405693	C	T	139405693	3	4	88	1	0	0	0	0	1	0	0	0	10615	478	17	2	5245	2	NOTCH1	9	139405693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8011	139405693	1807738	10266	17978											
NOTCH1	4851	broad.mit.edu	37	chr9	139410085	139410085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggcaggtgaaggtggCgacgccgtccttgcaggagc	18	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139410085C>T	ENST00000277541.6	-	11	1828	c.1753G>A	c.(1753-1755)Gcc>Acc	p.A585T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	585	EGF-like 15; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGAAGGTGGCGACGCCGTCC	0.692			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			False	0	False	9:139410085	0	T	139410085	C	T	139410085	3	4	88	1	0	0	0	0	1	0	0	0	10615	768	27	1	6010	1	NOTCH1	9	139410085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4392	139410085	1803346	10267	17979											
NOTCH1	4851	broad.mit.edu	37	chr9	139412240	139412240	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctggaactccccaatctggtCcaggcaggtggcgtcgttct	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139412240C>A	ENST00000277541.6	-	8	1480	c.1405G>T	c.(1405-1407)Gac>Tac	p.D469Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	469	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.D469N(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCAATCTGGTCCAGGCAGGTG	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			False	0	True	9:139412240	0	A	139412240	C	A	139412240	3	1	88	1	0	0	0	0	1	0	0	0	10615	855	30	3	6370	3	NOTCH1	9	139412240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2155	139412240	1801191	10268	17980											
EGFL7	51162	broad.mit.edu	37	chr9	139563096	139563096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcccttcctcaccacctgCgacgggcaccgggcctgcag	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139563096C>T	ENST00000371699.1	+	4	1079	c.168C>T	c.(166-168)tgC>tgT	p.C56C	EGFL7_ENST00000406555.3_Silent_p.C56C|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000371698.3_Silent_p.C56C|EGFL7_ENST00000308874.7_Silent_p.C56C			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	56	EMI.				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TCACCACCTGCGACGGGCACC	0.682													False	0	False	9:139563096	0	T	139563096	C	T	139563096	2	4	88	1	0	0	0	0	0	0	0	1	4994	776	27	1		1	EGFL7	9	139563096	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150856	139563096	1650335	10269	17981											
EGFL7	51162	broad.mit.edu	37	chr9	139564693	139564693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgccggcagttactggtGccagtgttgggaggggcaca	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139564693G>A	ENST00000371699.1	+	7	1393	c.482G>A	c.(481-483)tGc>tAc	p.C161Y	EGFL7_ENST00000406555.3_Missense_Mutation_p.C161Y|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000371698.3_Missense_Mutation_p.C161Y|EGFL7_ENST00000308874.7_Missense_Mutation_p.C161Y			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	161	EGF-like 2; calcium-binding (Potential).				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AGTTACTGGTGCCAGTGTTGG	0.657													False	0	False	9:139564693	0	A	139564693	G	A	139564693	3	1	88	1	0	0	0	0	1	0	0	0	4994	1319	46	2	500	2	EGFL7	9	139564693	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1597	139564693	1648738	10270	17982											
FAM69B	138311	broad.mit.edu	37	chr9	139617731	139617731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtggctggggcctgcGtggccttggcgggccaagat	18	11	0	1	rs112780986		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139617731G>A	ENST00000371691.1	+	3	1639	c.540G>A	c.(538-540)gcG>gcA	p.A180A	FAM69B_ENST00000371692.4_Silent_p.A267A|SNHG7_ENST00000414282.1_RNA			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	267						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TGGGGCCTGCGTGGCCTTGGC	0.677													False	0	False	9:139617731	0	A	139617731	G	A	139617731	2	1	88	1	0	0	0	0	0	0	0	1	5643	1132	40	1		1	FAM69B	9	139617731	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53038	139617731	1595700	10271	17983											
FAM69B	138311	broad.mit.edu	37	chr9	139617866	139617866	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acagccacctacgacttcaaGatggccgacctgcagcaggt	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139617866G>A	ENST00000371691.1	+	3	1774	c.675G>A	c.(673-675)aaG>aaA	p.K225K	FAM69B_ENST00000371692.4_Silent_p.K312K|SNHG7_ENST00000414282.1_RNA			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	312						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		ACGACTTCAAGATGGCCGACC	0.642													False	0	False	9:139617866	0	A	139617866	G	A	139617866	2	1	88	1	0	0	0	0	0	0	0	1	5643	933	33	2		2	FAM69B	9	139617866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135	139617866	1595565	10272	17984											
LCN8	138307	broad.mit.edu	37	chr9	139651524	139651524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacggtcaggttactccCgctcaaggtgaggaacaagc	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139651524C>T	ENST00000371688.3	-	2	416	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	64					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		AGGTTACTCCCGCTCAAGGTG	0.607													False	0	True	9:139651524	0	T	139651524	C	T	139651524	3	4	88	1	0	0	0	0	1	0	0	0	8737	652	23	1	361	1	LCN8	9	139651524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33658	139651524	1561907	10273	17985											
C9orf172	389813	broad.mit.edu	37	chr9	139740881	139740881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaatgcgcgctgccggcGcaccgagaccatgttcaacg	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139740881G>A	ENST00000436881.1	+	1	2015	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	672										endometrium(2)|large_intestine(1)|lung(6)	9						CGCTGCCGGCGCACCGAGACC	0.701													False	0	False	9:139740881	0	A	139740881	G	A	139740881	3	1	88	1	0	0	0	0	1	0	0	0	2491	1087	38	1	2017	1	C9orf172	9	139740881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89357	139740881	1472550	10274	17986											
C9orf172	389813	broad.mit.edu	37	chr9	139741017	139741017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtacggccgcgtgggcagCgtgtgccgccacgtactgca	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139741017C>T	ENST00000436881.1	+	1	2151	c.2151C>T	c.(2149-2151)agC>agT	p.S717S		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	717										endometrium(2)|large_intestine(1)|lung(6)	9						GCGTGGGCAGCGTGTGCCGCC	0.716													False	0	False	9:139741017	0	T	139741017	C	T	139741017	2	4	88	1	0	0	0	0	0	0	0	1	2491	767	27	1		1	C9orf172	9	139741017	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136	139741017	1472414	10275	17987											
PHPT1	29085	broad.mit.edu	37	chr9	139743961	139743961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtatgtgctgatccgaGtccactcggctccccgctcc	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139743961G>A	ENST00000545326.1	+	1	706	c.79G>A	c.(79-81)Gtc>Atc	p.V27I	PHPT1_ENST00000371661.1_Missense_Mutation_p.V27I|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000247665.10_Missense_Mutation_p.V27I	NM_001135861.1	NP_001129333.1	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	27				V -> I (in Ref. 4; CAB66579).		cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCTGATCCGAGTCCACTCGGC	0.647													False	0	False	9:139743961	0	A	139743961	G	A	139743961	3	1	88	1	0	0	0	0	1	0	0	0	11929	1029	36	2	81	2	PHPT1	9	139743961	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2944	139743961	1469470	10276	17988											
PHPT1	29085	broad.mit.edu	37	chr9	139743981	139743981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccactcggctccccgctcCggggctccggctgcagagag	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139743981C>T	ENST00000545326.1	+	1	726	c.99C>T	c.(97-99)tcC>tcT	p.S33S	PHPT1_ENST00000371661.1_Silent_p.S33S|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000247665.10_Silent_p.S33S	NM_001135861.1	NP_001129333.1	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1	33						cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTCCCCGCTCCGGGGCTCCGG	0.652													False	0	True	9:139743981	0	T	139743981	C	T	139743981	2	4	88	1	0	0	0	0	0	0	0	1	11929	639	23	1		1	PHPT1	9	139743981	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	139743981	1469450	10277	17989											
MAMDC4	158056	broad.mit.edu	37	chr9	139752883	139752883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagtctggcctgtgtggCtggagccacctggcctggcc	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139752883C>T	ENST00000445819.1	+	24	2993	c.2943C>T	c.(2941-2943)ggC>ggT	p.G981G	MAMDC4_ENST00000317446.2_Silent_p.G902G|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	981	MAM 6.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCCTGTGTGGCTGGAGCCACC	0.687													False	0	False	9:139752883	0	T	139752883	C	T	139752883	2	4	88	1	0	0	0	0	0	0	0	1	9271	784	28	2		2	MAMDC4	9	139752883	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8902	139752883	1460548	10278	17990											
EDF1	8721	broad.mit.edu	37	chr9	139756945	139756945	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgagcactcctggttcccAcatctaattttgaagaggat	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139756945A>G	ENST00000371649.1	-	5	415	c.389T>C	c.(388-390)gTg>gCg	p.V130A	EDF1_ENST00000224073.1_Intron|EDF1_ENST00000371648.4_3'UTR	NM_001281297.1	NP_001268226.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	130	HTH cro/C1-type.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCTGGTTCCCACATCTAATTT	0.602													False	0	True	9:139756945	0	G	139756945	A	G	139756945	3	3	88	1	0	0	0	0	1	0	0	0	4944	174	6	4		4	EDF1	9	139756945	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4062	139756945	1456486	10279	17991											
TRAF2	7186	broad.mit.edu	37	chr9	139802654	139802654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgagctgccggcattgcCgggcaccctgctgcggagca	15	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139802654C>T	ENST00000359662.3	+	5	700	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	TRAF2_ENST00000247668.2_Missense_Mutation_p.R167W|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.R167W			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	167				Missing (in Ref. 2; BAB70792).	activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CCGGCATTGCCGGGCACCCTG	0.682													False	0	True	9:139802654	0	T	139802654	C	T	139802654	3	4	88	1	0	0	0	0	1	0	0	0	16521	643	23	1	513	1	TRAF2	9	139802654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45709	139802654	1410777	10280	17992											
FBXW5	54461	broad.mit.edu	37	chr9	139835759	139835759	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagcactcgtcgttgggCgtgtaggcgcggtgcgcacg	17	10	0	1	rs138768587	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139835759C>T	ENST00000325285.3	-	8	1480	c.1401G>A	c.(1399-1401)acG>acA	p.T467T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	467							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGTCGTTGGGCGTGTAGGCGC	0.672													False	0	True	9:139835759	0	T	139835759	C	T	139835759	2	4	88	1	0	0	0	0	0	0	0	1	5808	755	27	1		1	FBXW5	9	139835759	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33105	139835759	1377672	10281	17993											
FBXW5	54461	broad.mit.edu	37	chr9	139836053	139836053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctatgacgtggtccagcgCgtcgaagaaggcatcggagc	15	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139836053C>T	ENST00000325285.3	-	7	1259	c.1180G>A	c.(1180-1182)Gcg>Acg	p.A394T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	394							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGTCCAGCGCGTCGAAGAAG	0.662													False	0	False	9:139836053	0	T	139836053	C	T	139836053	3	4	88	1	0	0	0	0	1	0	0	0	5808	768	27	1	532	1	FBXW5	9	139836053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294	139836053	1377378	10282	17994											
FBXW5	54461	broad.mit.edu	37	chr9	139836666	139836666	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcgcccgcccctccaGcacgcggtccagaaagtgcc	12	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139836666G>A	ENST00000325285.3	-	6	1007	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	310							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGCCCCTCCAGCACGCGGTCC	0.706													False	0	False	9:139836666	0	A	139836666	G	A	139836666	2	1	88	1	0	0	0	0	0	0	0	1	5808	962	34	2		2	FBXW5	9	139836666	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	613	139836666	1376765	10283	17995											
PTGDS	5730	broad.mit.edu	37	chr9	139873509	139873509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctccgggagaagaaggCggcgttgtccatgtgcaagt	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139873509C>T	ENST00000224167.2	+	2	254	c.179C>T	c.(178-180)gCg>gTg	p.A60V	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000371625.3_Missense_Mutation_p.A60V			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	60					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGAAGAAGGCGGCGTTGTCC	0.687													False	0	False	9:139873509	0	T	139873509	C	T	139873509	3	4	88	1	0	0	0	0	1	0	0	0	12818	768	27	1	185	1	PTGDS	9	139873509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36843	139873509	1339922	10284	17996											
PTGDS	5730	broad.mit.edu	37	chr9	139873809	139873809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggcgacacttgccgggaCgactctgggccagccccctg	16	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139873809C>T	ENST00000224167.2	+	3	464	c.389C>T	c.(388-390)aCg>aTg	p.T130M	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000371625.3_Intron			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	111					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTTGCCGGGACGACTCTGGGC	0.731													False	0	False	9:139873809	0	T	139873809	C	T	139873809	3	4	88	1	0	0	0	0	1	0	0	0	12818	551	19	1		1	PTGDS	9	139873809	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	300	139873809	1339622	10285	17997											
PTGDS	5730	broad.mit.edu	37	chr9	139874451	139874451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccgactacgaccagtacGcgctgctgtacagccagggc	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139874451G>A	ENST00000224167.2	+	4	562	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	PTGDS_ENST00000371625.3_Missense_Mutation_p.A129T			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	129					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGACCAGTACGCGCTGCTGTA	0.662													False	0	False	9:139874451	0	A	139874451	G	A	139874451	3	1	88	1	0	0	0	0	1	0	0	0	12818	1087	38	1	399	1	PTGDS	9	139874451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	642	139874451	1338980	10286	17998											
ABCA2	20	broad.mit.edu	37	chr9	139903232	139903232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcctcgatgcccagcacgCcagacacctgctccatcttg	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139903232C>T	ENST00000265662.5	-	47	7166	c.7019G>A	c.(7018-7020)gGc>gAc	p.G2340D	ABCA2_ENST00000371605.3_Missense_Mutation_p.G2339D|ABCA2_ENST00000341511.6_Missense_Mutation_p.G2340D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2339					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCCAGCACGCCAGACACCTG	0.647													False	0	False	9:139903232	0	T	139903232	C	T	139903232	3	4	88	1	0	0	0	0	1	0	0	0	32	739	26	2	303	2	ABCA2	9	139903232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28781	139903232	1310199	10287	17999											
ABCA2	20	broad.mit.edu	37	chr9	139903317	139903317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacctttgtgtggtgccGctcctgcagggggggaggtc	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139903317G>A	ENST00000265662.5	-	47	7081	c.6934C>T	c.(6934-6936)Cgg>Tgg	p.R2312W	ABCA2_ENST00000371605.3_Missense_Mutation_p.R2311W|ABCA2_ENST00000341511.6_Missense_Mutation_p.R2312W			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2311					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGTGGTGCCGCTCCTGCAGG	0.672													False	0	False	9:139903317	0	A	139903317	G	A	139903317	3	1	88	1	0	0	0	0	1	0	0	0	32	1086	38	1	388	1	ABCA2	9	139903317	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85	139903317	1310114	10288	18000											
ABCA2	20	broad.mit.edu	37	chr9	139904272	139904272	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgatggccgtggagagcttCcgcttgttgccgccgctgta	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139904272C>T	ENST00000265662.5	-	43	6726	c.6579G>A	c.(6577-6579)cgG>cgA	p.R2193R	ABCA2_ENST00000371605.3_Silent_p.R2192R|ABCA2_ENST00000341511.6_Silent_p.R2193R			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2192	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGGAGAGCTTCCGCTTGTTGC	0.632													False	0	False	9:139904272	0	T	139904272	C	T	139904272	2	4	88	1	0	0	0	0	0	0	0	1	32	842	30	2		2	ABCA2	9	139904272	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	955	139904272	1309159	10289	18001											
ABCA2	20	broad.mit.edu	37	chr9	139907734	139907734	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagccggaacgtgctcacGagctgctgggggctggcgtc	18	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139907734G>A	ENST00000265662.5	-	30	4734	c.4587C>T	c.(4585-4587)ctC>ctT	p.L1529L	ABCA2_ENST00000371605.3_Silent_p.L1528L|ABCA2_ENST00000341511.6_Silent_p.L1529L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1528					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACGTGCTCACGAGCTGCTGGG	0.736													False	0	False	9:139907734	0	A	139907734	G	A	139907734	2	1	88	1	0	0	0	0	0	0	0	1	32	1045	37	1		1	ABCA2	9	139907734	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3462	139907734	1305697	10290	18002											
ABCA2	20	broad.mit.edu	37	chr9	139911650	139911650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccgcgaccctcaccgCgatgcacttctcgaaggccg	10	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139911650C>T	ENST00000265662.5	-	18	2698	c.2551G>A	c.(2551-2553)Gcg>Acg	p.A851T	ABCA2_ENST00000371605.3_Missense_Mutation_p.A850T|ABCA2_ENST00000341511.6_Missense_Mutation_p.A851T			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	850					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCCTCACCGCGATGCACTTC	0.637													False	0	False	9:139911650	0	T	139911650	C	T	139911650	3	4	88	1	0	0	0	0	1	0	0	0	32	768	27	1	4887	1	ABCA2	9	139911650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3916	139911650	1301781	10291	18003											
ABCA2	20	broad.mit.edu	37	chr9	139912431	139912431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccagcactcactcatcgCgtgtgtagcaggggtagggg	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139912431C>T	ENST00000265662.5	-	15	2237	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H	ABCA2_ENST00000371605.3_Missense_Mutation_p.R696H|ABCA2_ENST00000341511.6_Missense_Mutation_p.R697H			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	696					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCACTCATCGCGTGTGTAGCA	0.642													False	0	True	9:139912431	0	T	139912431	C	T	139912431	3	4	88	1	0	0	0	0	1	0	0	0	32	768	27	1	5360	1	ABCA2	9	139912431	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	781	139912431	1301000	10292	18004											
ABCA2	20	broad.mit.edu	37	chr9	139914880	139914880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgaggaggcccaggttccGctgctccttgctcgtgaagc	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139914880G>A	ENST00000265662.5	-	10	1480	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	ABCA2_ENST00000371605.3_Missense_Mutation_p.R444W|ABCA2_ENST00000341511.6_Missense_Mutation_p.R445W|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	444					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCAGGTTCCGCTGCTCCTTG	0.677													False	0	False	9:139914880	0	A	139914880	G	A	139914880	3	1	88	1	0	0	0	0	1	0	0	0	32	1086	38	1	6137	1	ABCA2	9	139914880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2449	139914880	1298551	10293	18005											
C9orf139	401563	broad.mit.edu	37	chr9	139929414	139929414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccagaaatgggtcagaacGaaagcctctcagaggaaaga	12	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139929414G>A	ENST00000314330.2	+	3	1995	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	161										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGTCAGAACGAAAGCCTCTC	0.632													False	0	True	9:139929414	0	A	139929414	G	A	139929414	3	1	88	1	0	0	0	0	1	0	0	0	2479	1059	37	1	487	1	C9orf139	9	139929414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14534	139929414	1284017	10294	18006											
ENTPD2	954	broad.mit.edu	37	chr9	139944442	139944442	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagaagaaggcagagaaggcCtgtagggggcgcagtcacac	16	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139944442C>A	ENST00000355097.2	-	7	1077		c.e7-1		ENTPD2_ENST00000312665.5_Splice_Site	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2							integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAGAGAAGGCCTGTAGGGGGC	0.632											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:139944442	0	A	139944442	C	A	139944442	5	1	88	1	0	0	0	0	0	0	1	0	5171	695	24	3	470	3	ENTPD2	9	139944442	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15028	139944442	1268989	10295	18007											
DPP7	29952	broad.mit.edu	37	chr9	140005399	140005399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaggcactcaggttcctccGaatctgtggtcagtggaaag	13	9	3	1	rs149094336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140005399G>A	ENST00000371579.2	-	12	1280	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	426						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		AGGTTCCTCCGAATCTGTGGT	0.652													False	0	False	9:140005399	0	A	140005399	G	A	140005399	3	1	88	1	0	0	0	0	1	0	0	0	4761	1057	37	1	210	1	DPP7	9	140005399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60957	140005399	1208032	10296	18008											
GRIN1	2902	broad.mit.edu	37	chr9	140057086	140057086	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatcctgggcatggtgtgGgccggctttgccatgatcat	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140057086G>A	ENST00000371561.3	+	14	3005	c.1908G>A	c.(1906-1908)tgG>tgA	p.W636*	GRIN1_ENST00000371560.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371553.3_Nonsense_Mutation_p.W657*|GRIN1_ENST00000350902.5_Nonsense_Mutation_p.W636*|GRIN1_ENST00000315048.3_Nonsense_Mutation_p.W636*|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371550.4_Nonsense_Mutation_p.W636*|GRIN1_ENST00000371546.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371555.4_Nonsense_Mutation_p.W657*|GRIN1_ENST00000371559.4_Nonsense_Mutation_p.W636*	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	636					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCATGGTGTGGGCCGGCTTTG	0.701													False	0	True	9:140057086	0	A	140057086	G	A	140057086	4	1	88	1	0	0	0	0	0	1	0	0	6825	1241	43	2	2029	2	GRIN1	9	140057086	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51687	140057086	1156345	10297	18009											
ANAPC2	29882	broad.mit.edu	37	chr9	140069809	140069809	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcaatgacagagaaGgtgccggggggctcctcacg	13	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140069809G>T	ENST00000323927.2	-	12	2140	c.2136C>A	c.(2134-2136)acC>acA	p.T712T	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	712					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGACAGAGAAGGTGCCGGGGG	0.662													False	0	False	9:140069809	0	T	140069809	G	T	140069809	2	4	88	1	0	0	0	0	0	0	0	1	603	987	35	3		3	ANAPC2	9	140069809	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12723	140069809	1143622	10298	18010											
ANAPC2	29882	broad.mit.edu	37	chr9	140069920	140069920	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagttcctccagggtccaGctggctgcgtgcagagtcac	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140069920G>T	ENST00000323927.2	-	12	2029	c.2025C>A	c.(2023-2025)agC>agA	p.S675R	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	675					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCAGGGTCCAGCTGGCTGCGT	0.721													False	0	True	9:140069920	0	T	140069920	G	T	140069920	3	4	88	1	0	0	0	0	1	0	0	0	603	962	34	3	451	3	ANAPC2	9	140069920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	140069920	1143511	10299	18011											
ANAPC2	29882	broad.mit.edu	37	chr9	140082017	140082017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaccctgcacacagcGggctctgcaggagccggtag	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140082017G>A	ENST00000323927.2	-	2	660	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	219					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGCACACAGCGGGCTCTGCAG	0.627													False	0	True	9:140082017	0	A	140082017	G	A	140082017	3	1	88	1	0	0	0	0	1	0	0	0	603	1116	39	1	1860	1	ANAPC2	9	140082017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12097	140082017	1131414	10300	18012											
NDOR1	27158	broad.mit.edu	37	chr9	140109118	140109118	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcctggaccctgaccagctCttcatgctgcagccgcggga	13	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140109118C>A	ENST00000371521.4	+	7	902	c.819C>A	c.(817-819)ctC>ctA	p.L273L	NDOR1_ENST00000427047.2_Silent_p.L239L|NDOR1_ENST00000458322.2_Silent_p.L273L|NDOR1_ENST00000344894.5_Silent_p.L273L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	273	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTGACCAGCTCTTCATGCTGC	0.682													False	0	False	9:140109118	0	A	140109118	C	A	140109118	2	1	88	1	0	0	0	0	0	0	0	1	10317	900	32	3		3	NDOR1	9	140109118	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27101	140109118	1104313	10301	18013											
NDOR1	27158	broad.mit.edu	37	chr9	140109572	140109572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgacttcccgcacacagCtgccgccatccctcccgact	7	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140109572C>A	ENST00000371521.4	+	9	1174	c.1091C>A	c.(1090-1092)gCt>gAt	p.A364D	NDOR1_ENST00000427047.2_Missense_Mutation_p.A330D|NDOR1_ENST00000458322.2_Missense_Mutation_p.A364D|NDOR1_ENST00000344894.5_Missense_Mutation_p.A364D	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	364	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCGCACACAGCTGCCGCCATC	0.652													False	0	False	9:140109572	0	A	140109572	C	A	140109572	3	1	88	1	0	0	0	0	1	0	0	0	10317	797	28	3	1125	3	NDOR1	9	140109572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	454	140109572	1103859	10302	18014											
NDOR1	27158	broad.mit.edu	37	chr9	140110152	140110152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgcggcctgggagtctgGccttcccagagacaccagac	15	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140110152G>A	ENST00000371521.4	+	11	1413	c.1330G>A	c.(1330-1332)Gcc>Acc	p.A444T	NDOR1_ENST00000427047.2_Missense_Mutation_p.A410T|NDOR1_ENST00000458322.2_Missense_Mutation_p.A437T|NDOR1_ENST00000344894.5_Missense_Mutation_p.A444T	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	444	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGGAGTCTGGCCTTCCCAGA	0.642													False	0	False	9:140110152	0	A	140110152	G	A	140110152	3	1	88	1	0	0	0	0	1	0	0	0	10317	1203	42	2	1372	2	NDOR1	9	140110152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	580	140110152	1103279	10303	18015											
NDOR1	27158	broad.mit.edu	37	chr9	140110839	140110839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccaggctccagcagacaCggcgcttccagacagagacg	12	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140110839C>T	ENST00000371521.4	+	14	1875	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W	NDOR1_ENST00000427047.2_3'UTR|NDOR1_ENST00000458322.2_Missense_Mutation_p.R582W|NDOR1_ENST00000344894.5_Missense_Mutation_p.R589W	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	589					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCAGCAGACACGGCGCTTCCA	0.682													False	0	False	9:140110839	0	T	140110839	C	T	140110839	3	4	88	1	0	0	0	0	1	0	0	0	10317	527	19	1	1846	1	NDOR1	9	140110839	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	687	140110839	1102592	10304	18016											
RNF208	727800	broad.mit.edu	37	chr9	140115570	140115570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtggacaatcttcatgGcctccatcttgaggatgaca	11	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140115570G>A	ENST00000392827.1	-	2	263	c.95C>T	c.(94-96)gCc>gTc	p.A32V	RNF208_ENST00000391553.1_Missense_Mutation_p.A32V			Q9H0X6	RN208_HUMAN	ring finger protein 208	32							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AATCTTCATGGCCTCCATCTT	0.672													False	0	False	9:140115570	0	A	140115570	G	A	140115570	3	1	88	1	0	0	0	0	1	0	0	0	13554	1203	42	2	694	2	RNF208	9	140115570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4731	140115570	1097861	10305	18017											
SLC34A3	142680	broad.mit.edu	37	chr9	140128134	140128134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacaggcaacgccactaacaGcagtctcattaagcactggt	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140128134G>T	ENST00000538474.1	+	8	1030	c.806G>T	c.(805-807)aGc>aTc	p.S269I	SLC34A3_ENST00000361134.2_Missense_Mutation_p.S269I	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	269					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCACTAACAGCAGTCTCATT	0.627													False	0	False	9:140128134	0	T	140128134	G	T	140128134	3	4	88	1	0	0	0	0	1	0	0	0	14649	971	34	3	832	3	SLC34A3	9	140128134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12564	140128134	1085297	10306	18018											
SLC34A3	142680	broad.mit.edu	37	chr9	140128878	140128878	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccccacagacttccccttCccgctgggctggctcggcgg	11	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140128878C>T	ENST00000538474.1	+	11	1328	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	SLC34A3_ENST00000361134.2_Silent_p.F368F	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	368					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACTTCCCCTTCCCGCTGGGCT	0.716													False	0	True	9:140128878	0	T	140128878	C	T	140128878	2	4	88	1	0	0	0	0	0	0	0	1	14649	854	30	2		2	SLC34A3	9	140128878	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	744	140128878	1084553	10307	18019											
SLC34A3	142680	broad.mit.edu	37	chr9	140130446	140130446	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaacctggccggcatcctgCtgtggtacctggtgcctgca	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140130446C>A	ENST00000538474.1	+	13	1602	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M	SLC34A3_ENST00000361134.2_Missense_Mutation_p.L460M	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	460					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGGCATCCTGCTGTGGTACCT	0.697											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:140130446	0	A	140130446	C	A	140130446	3	1	88	1	0	0	0	0	1	0	0	0	14649	796	28	3	1424	3	SLC34A3	9	140130446	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1568	140130446	1082985	10308	18020											
FAM166A	401565	broad.mit.edu	37	chr9	140138683	140138683	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgtagatgtggttgctggGccagtgtgttccaggcagct	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140138683G>T	ENST00000344774.4	-	6	859	c.805C>A	c.(805-807)Ccc>Acc	p.P269T		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	269										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						TGGTTGCTGGGCCAGTGTGTT	0.607													False	0	True	9:140138683	0	T	140138683	G	T	140138683	3	4	88	1	0	0	0	0	1	0	0	0	5517	1203	42	3	156	3	FAM166A	9	140138683	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8237	140138683	1074748	10309	18021											
FAM166A	401565	broad.mit.edu	37	chr9	140139905	140139905	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcgtgaagcctgcaggcaGcagaatctgtctgggtatgt	16	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140139905G>T	ENST00000344774.4	-	3	430	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	FAM166A_ENST00000388932.2_Missense_Mutation_p.L126M	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	126										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CCTGCAGGCAGCAGAATCTGT	0.622													False	0	True	9:140139905	0	T	140139905	G	T	140139905	3	4	88	1	0	0	0	0	1	0	0	0	5517	962	34	3	597	3	FAM166A	9	140139905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1222	140139905	1073526	10310	18022											
C9orf173	441476	broad.mit.edu	37	chr9	140146307	140146307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttacagacgggcaccccccaGgagtccctgcccacctacac	8	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140146307G>T	ENST00000388931.3	+	2	254	c.228G>T	c.(226-228)caG>caT	p.Q76H	C9orf173_ENST00000412566.1_Missense_Mutation_p.Q76H	NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1	NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1	Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	76										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						GCACCCCCCAGGAGTCCCTGC	0.647													False	0	False	9:140146307	0	T	140146307	G	T	140146307	3	4	88	1	0	0	0	0	1	0	0	0	2492	991	35	3	234	3	C9orf173	9	140146307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6402	140146307	1067124	10311	18023											
EXD3	54932	broad.mit.edu	37	chr9	140201415	140201415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcctcagaagggactgCtggccgggctgggggctggg	20	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140201415C>T	ENST00000340951.4	-	22	2813	c.2618G>A	c.(2617-2619)aGc>aAc	p.S873N	EXD3_ENST00000342129.4_Missense_Mutation_p.S511N	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	873					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GAAGGGACTGCTGGCCGGGCT	0.652													False	0	False	9:140201415	0	T	140201415	C	T	140201415	3	4	88	1	0	0	0	0	1	0	0	0	5331	797	28	2	16	2	EXD3	9	140201415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55108	140201415	1012016	10312	18024											
EXD3	54932	broad.mit.edu	37	chr9	140218237	140218237	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaatgcttgagcacagcCttggcctgctgctgggcctt	12	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140218237C>A	ENST00000340951.4	-	19	2319	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	EXD3_ENST00000342129.4_Missense_Mutation_p.K359N	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	708					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TGAGCACAGCCTTGGCCTGCT	0.667													False	0	False	9:140218237	0	A	140218237	C	A	140218237	3	1	88	1	0	0	0	0	1	0	0	0	5331	680	24	3	522	3	EXD3	9	140218237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16822	140218237	995194	10313	18025											
EXD3	54932	broad.mit.edu	37	chr9	140267392	140267392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtggtggaggcggtggaCgtgtgccagcaggcagctcc	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140267392C>T	ENST00000340951.4	-	5	622	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	EXD3_ENST00000479452.1_Missense_Mutation_p.V143I|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	143					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGGCGGTGGACGTGTGCCAGC	0.667													False	0	False	9:140267392	0	T	140267392	C	T	140267392	3	4	88	1	0	0	0	0	1	0	0	0	5331	536	19	1	2275	1	EXD3	9	140267392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49155	140267392	946039	10314	18026											
NOXA1	10811	broad.mit.edu	37	chr9	140328493	140328493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggccagaggacctggGcttccgacagggggacacgg	18	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140328493G>A	ENST00000341349.2	+	13	1436	c.1256G>A	c.(1255-1257)gGc>gAc	p.G419D	NOXA1_ENST00000392815.2_Missense_Mutation_p.G363D	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	419	SH3.		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		GAGGACCTGGGCTTCCGACAG	0.701													False	0	True	9:140328493	0	A	140328493	G	A	140328493	3	1	88	1	0	0	0	0	1	0	0	0	10628	1203	42	2	1306	2	NOXA1	9	140328493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61101	140328493	884938	10315	18027											
NOXA1	10811	broad.mit.edu	37	chr9	140328737	140328737	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcatcttccccaagtgcttCgtggtccccgccggccctcg	11	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140328737C>T	ENST00000341349.2	+	14	1557	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	NOXA1_ENST00000392815.2_Silent_p.F403F	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	452			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CCAAGTGCTTCGTGGTCCCCG	0.652													False	0	False	9:140328737	0	T	140328737	C	T	140328737	2	4	88	1	0	0	0	0	0	0	0	1	10628	883	31	1		1	NOXA1	9	140328737	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244	140328737	884694	10316	18028											
ENTPD8	377841	broad.mit.edu	37	chr9	140329483	140329483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgcccgccactgagcCggcgcatcggccgggatcat	12	17	2	1	rs140934866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140329483C>T	ENST00000371506.2	-	10	1554	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	ENTPD8_ENST00000472938.1_Silent_p.P457P|ENTPD8_ENST00000344119.2_Silent_p.P420P	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	457						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCCACTGAGCCGGCGCATCGG	0.677													False	0	False	9:140329483	0	T	140329483	C	T	140329483	2	4	88	1	0	0	0	0	0	0	0	1	5177	639	23	1		1	ENTPD8	9	140329483	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	746	140329483	883948	10317	18029											
ENTPD8	377841	broad.mit.edu	37	chr9	140330977	140330977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagggccagctgacctgtAccagccccacgaggagcctg	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140330977A>G	ENST00000371506.2	-	6	965	c.782T>C	c.(781-783)gTa>gCa	p.V261A	ENTPD8_ENST00000472938.1_Missense_Mutation_p.V261A|ENTPD8_ENST00000344119.2_Missense_Mutation_p.V261A	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	261						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCTGACCTGTACCAGCCCCAC	0.662													False	0	False	9:140330977	0	G	140330977	A	G	140330977	3	3	88	1	0	0	0	0	1	0	0	0	5177	391	14	4	725	4	ENTPD8	9	140330977	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1494	140330977	882454	10318	18030											
ENTPD8	377841	broad.mit.edu	37	chr9	140331021	140331021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatctggtcccgtccaaaGcacaggtagctgtgagtgta	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140331021G>A	ENST00000371506.2	-	6	921	c.738C>T	c.(736-738)tgC>tgT	p.C246C	ENTPD8_ENST00000472938.1_Silent_p.C246C|ENTPD8_ENST00000344119.2_Silent_p.C246C	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	246						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CCCGTCCAAAGCACAGGTAGC	0.632													False	0	True	9:140331021	0	A	140331021	G	A	140331021	2	1	88	1	0	0	0	0	0	0	0	1	5177	963	34	2		2	ENTPD8	9	140331021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	140331021	882410	10319	18031											
PNPLA7	375775	broad.mit.edu	37	chr9	140361890	140361890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagggatgccgcactccGccaaggccttgagaacgccc	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140361890G>A	ENST00000406427.1	-	26	3254	c.2918C>T	c.(2917-2919)gCg>gTg	p.A973V	PNPLA7_ENST00000277531.4_Missense_Mutation_p.A948V|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.A554V	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	948	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCGCACTCCGCCAAGGCCTT	0.652													False	0	False	9:140361890	0	A	140361890	G	A	140361890	3	1	88	1	0	0	0	0	1	0	0	0	12239	1087	38	1	1150	1	PNPLA7	9	140361890	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30869	140361890	851541	10320	18032											
PNPLA7	375775	broad.mit.edu	37	chr9	140374823	140374823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgcagtcggcctggcGcacgcagcgctgggtccagg	18	12	0	0	rs150851825	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140374823G>A	ENST00000406427.1	-	23	2857	c.2521C>T	c.(2521-2523)Cgc>Tgc	p.R841C	PNPLA7_ENST00000277531.4_Missense_Mutation_p.R816C|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R422C	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	816					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.R816C(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCGGCCTGGCGCACGCAGCGC	0.687													False	0	True	9:140374823	0	A	140374823	G	A	140374823	3	1	88	1	0	0	0	0	1	0	0	0	12239	1087	38	1	1559	1	PNPLA7	9	140374823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12933	140374823	838608	10321	18033											
PNPLA7	375775	broad.mit.edu	37	chr9	140392624	140392624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggcaaagtcgatttgccGcacgaaggacgacatcctct	11	12	1	0	rs148776350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140392624G>A	ENST00000406427.1	-	17	2167	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	PNPLA7_ENST00000277531.4_Missense_Mutation_p.R586W|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R192W	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	586					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCGATTTGCCGCACGAAGGAC	0.627													False	0	False	9:140392624	0	A	140392624	G	A	140392624	3	1	88	1	0	0	0	0	1	0	0	0	12239	1086	38	1	2273	1	PNPLA7	9	140392624	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17801	140392624	820807	10322	18034											
PNPLA7	375775	broad.mit.edu	37	chr9	140400201	140400201	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtatctctgcaaccatcacGcttttcctggactggagaag	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140400201G>T	ENST00000406427.1	-	14	1674	c.1338C>A	c.(1336-1338)agC>agA	p.S446R	PNPLA7_ENST00000277531.4_Missense_Mutation_p.S421R|PNPLA7_ENST00000371457.1_Missense_Mutation_p.S27R	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	421				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CAACCATCACGCTTTTCCTGG	0.562													False	0	False	9:140400201	0	T	140400201	G	T	140400201	3	4	88	1	0	0	0	0	1	0	0	0	12239	1078	38	3	2778	3	PNPLA7	9	140400201	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7577	140400201	813230	10323	18035											
PNPLA7	375775	broad.mit.edu	37	chr9	140416117	140416117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctctgtggtcaggccgaGgtagttgtgcagagccagaa	16	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140416117G>T	ENST00000406427.1	-	10	1264	c.928C>A	c.(928-930)Ctc>Atc	p.L310I	PNPLA7_ENST00000277531.4_Missense_Mutation_p.L285I	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	285					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTCAGGCCGAGGTAGTTGTGC	0.592													False	0	False	9:140416117	0	T	140416117	G	T	140416117	3	4	88	1	0	0	0	0	1	0	0	0	12239	1000	35	3	3204	3	PNPLA7	9	140416117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15916	140416117	797314	10324	18036											
PNPLA7	375775	broad.mit.edu	37	chr9	140437993	140437993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggggctccttgggctgcaGggccgggtattccttcttga	16	11	1	1	rs146033561		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140437993G>T	ENST00000406427.1	-	6	733	c.397C>A	c.(397-399)Ctg>Atg	p.L133M	PNPLA7_ENST00000277531.4_Missense_Mutation_p.L108M	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	108					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTGGGCTGCAGGGCCGGGTAT	0.572													False	0	True	9:140437993	0	T	140437993	G	T	140437993	3	4	88	1	0	0	0	0	1	0	0	0	12239	991	35	3	3751	3	PNPLA7	9	140437993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21876	140437993	775438	10325	18037											
ZMYND19	116225	broad.mit.edu	37	chr9	140481555	140481555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgcccccccggtgccGctccctagaaacagacagca	10	19	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140481555G>A	ENST00000298585.2	-	4	449	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	75						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCCGGTGCCGCTCCCTAGAA	0.617													False	0	False	9:140481555	0	A	140481555	G	A	140481555	3	1	88	1	0	0	0	0	1	0	0	0	17793	1086	38	1	472	1	ZMYND19	9	140481555	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43562	140481555	731876	10326	18038											
ARRDC1	92714	broad.mit.edu	37	chr9	140508087	140508087	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccactgcacccacgtcctttGagggtcctttcgggaagatc	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140508087G>A	ENST00000371421.4	+	4	365	c.301G>A	c.(301-303)Gag>Aag	p.E101K	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	101										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CACGTCCTTTGAGGGTCCTTT	0.597													False	0	True	9:140508087	0	A	140508087	G	A	140508087	3	1	88	1	0	0	0	0	1	0	0	0	986	1291	45	2	315	2	ARRDC1	9	140508087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26532	140508087	705344	10327	18039											
ARRDC1	92714	broad.mit.edu	37	chr9	140508784	140508784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggccaagcgctggatccacGacgtacggaccattgcggag	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140508784G>A	ENST00000371421.4	+	6	716	c.652G>A	c.(652-654)Gac>Aac	p.D218N	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	218										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CTGGATCCACGACGTACGGAC	0.682													False	0	False	9:140508784	0	A	140508784	G	A	140508784	3	1	88	1	0	0	0	0	1	0	0	0	986	1058	37	1	674	1	ARRDC1	9	140508784	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	697	140508784	704647	10328	18040											
C9orf37	85026	broad.mit.edu	37	chr9	140510210	140510210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcttgcccaggtccctccGacaggagaccctgctccctg	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140510210G>A	ENST00000371417.3	-	3	982	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	C9orf37_ENST00000496793.1_5'UTR	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN	chromosome 9 open reading frame 37	148										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGGTCCCTCCGACAGGAGACC	0.672													False	0	False	9:140510210	0	A	140510210	G	A	140510210	3	1	88	1	0	0	0	0	1	0	0	0	2499	1057	37	1	92	1	C9orf37	9	140510210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1426	140510210	703221	10329	18041											
EHMT1	79813	broad.mit.edu	37	chr9	140611405	140611405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacaggcacagcccttgaGgactaccagcactctggcct	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140611405G>A	ENST00000460843.1	+	3	440	c.413G>A	c.(412-414)aGg>aAg	p.R138K	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.R138K|EHMT1_ENST00000334856.6_Missense_Mutation_p.R107K	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	138					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGCCCTTGAGGACTACCAGC	0.567													False	0	False	9:140611405	0	A	140611405	G	A	140611405	3	1	88	1	0	0	0	0	1	0	0	0	5013	1000	35	2	423	2	EHMT1	9	140611405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101195	140611405	602026	10330	18042											
EHMT1	79813	broad.mit.edu	37	chr9	140672344	140672344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctgaagtgctgccgggCcaccactctcggaggacgac	12	16	1	1	rs137852719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140672344C>T	ENST00000460843.1	+	13	2056	c.2029C>T	c.(2029-2031)Cca>Tca	p.P677S	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.P677S|EHMT1_ENST00000334856.6_Missense_Mutation_p.P646S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	677					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCTGCCGGGCCACCACTCTC	0.602													False	0	True	9:140672344	0	T	140672344	C	T	140672344	3	4	88	1	0	0	0	0	1	0	0	0	5013	739	26	2	2079	2	EHMT1	9	140672344	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60939	140672344	541087	10331	18043											
EHMT1	79813	broad.mit.edu	37	chr9	140711975	140711975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaggcacctttgtctgCgagtgagtgagtccctgggt	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140711975C>T	ENST00000460843.1	+	24	3486	c.3459C>T	c.(3457-3459)tgC>tgT	p.C1153C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1153	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCTTTGTCTGCGAGTGAGTGA	0.612													False	0	True	9:140711975	0	T	140711975	C	T	140711975	2	4	88	1	0	0	0	0	0	0	0	1	5013	776	27	1		1	EHMT1	9	140711975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39631	140711975	501456	10332	18044											
EHMT1	79813	broad.mit.edu	37	chr9	140728842	140728842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcgcggttctacgggaaCgtcagccggttcatcaacca	12	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140728842C>T	ENST00000460843.1	+	26	3609	c.3582C>T	c.(3580-3582)aaC>aaT	p.N1194N		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1194	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCTACGGGAACGTCAGCCGGT	0.667													False	0	False	9:140728842	0	T	140728842	C	T	140728842	2	4	88	1	0	0	0	0	0	0	0	1	5013	535	19	1		1	EHMT1	9	140728842	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16867	140728842	484589	10333	18045											
EHMT1	79813	broad.mit.edu	37	chr9	140729348	140729348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccagcgcggcccaggaGgcccaggaggacggcttgcc	17	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140729348G>A	ENST00000460843.1	+	27	3867	c.3840G>A	c.(3838-3840)gaG>gaA	p.E1280E		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1280					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGGCCCAGGAGGCCCAGGAGG	0.756													False	0	True	9:140729348	0	A	140729348	G	A	140729348	2	1	88	1	0	0	0	0	0	0	0	1	5013	991	35	2		2	EHMT1	9	140729348	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506	140729348	484083	10334	18046											
CACNA1B	774	broad.mit.edu	37	chr9	140809245	140809245	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagttccacaaggcctgtttCcccaacagcacaggtgaggc	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140809245C>A	ENST00000371372.1	+	5	907	c.762C>A	c.(760-762)ttC>ttA	p.F254L	CACNA1B_ENST00000277551.2_Missense_Mutation_p.F254L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F254L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F254L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	254					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGGCCTGTTTCCCCAACAGCA	0.562													False	0	True	9:140809245	0	A	140809245	C	A	140809245	3	1	88	1	0	0	0	0	1	0	0	0	2559	854	30	3	780	3	CACNA1B	9	140809245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79897	140809245	404186	10335	18047											
CACNA1B	774	broad.mit.edu	37	chr9	140952524	140952524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaacactccgtggatgCcacctatgaggagcagggtc	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140952524C>T	ENST00000277549.5	+	29	4287	c.1718C>T	c.(1717-1719)gCc>gTc	p.A573V	CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1377V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1377V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1378V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1377V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1378V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1377					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCGTGGATGCCACCTATGAG	0.547													False	0	False	9:140952524	0	T	140952524	C	T	140952524	3	4	88	1	0	0	0	0	1	0	0	0	2559	739	26	2	4240	2	CACNA1B	9	140952524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143279	140952524	260907	10336	18048											
CACNA1B	774	broad.mit.edu	37	chr9	140995616	140995616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtattgcgccacccgttggCttagggaagaactgccctcg	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140995616C>T	ENST00000371365.2	+	4	420	c.375C>T	c.(373-375)ggC>ggT	p.G125G	CACNA1B_ENST00000371372.1_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371355.4_Intron			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1761					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CACCCGTTGGCTTAGGGAAGA	0.498													False	0	False	9:140995616	0	T	140995616	C	T	140995616	2	4	88	1	0	0	0	0	0	0	0	1	2559	812	28	2		2	CACNA1B	9	140995616	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43092	140995616	217815	10337	18049											
CACNA1B	774	broad.mit.edu	37	chr9	141012423	141012423	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accaagagagtggcatcaaaGagtctgtctcctggggcact	12	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141012423G>T	ENST00000277549.5	+	43	5954	c.3385G>T	c.(3385-3387)Gag>Tag	p.E1129*	CACNA1B_ENST00000371372.1_Nonsense_Mutation_p.E1935*|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.E1935*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1934*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1933*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1936*			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1935					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGGCATCAAAGAGTCTGTCTC	0.572													False	0	True	9:141012423	0	T	141012423	G	T	141012423	4	4	88	1	0	0	0	0	0	1	0	0	2559	943	33	3	5969	3	CACNA1B	9	141012423	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16807	141012423	201008	10338	18050											
CACNA1B	774	broad.mit.edu	37	chr9	141015943	141015943	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtggttccgtgaatgggaGccccttgctgtcaacatctg	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141015943G>T	ENST00000277549.5	+	47	6663	c.4094G>T	c.(4093-4095)aGc>aTc	p.S1365I	CACNA1B_ENST00000371372.1_Missense_Mutation_p.S2171I|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S2170I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S2169I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S2172I			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2171		Calcium ion selectivity and permeability (By similarity).			membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTGAATGGGAGCCCCTTGCTG	0.557													False	0	True	9:141015943	0	T	141015943	G	T	141015943	3	4	88	1	0	0	0	0	1	0	0	0	2559	971	34	3	6694	3	CACNA1B	9	141015943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3520	141015943	197488	10339	18051											
CACNA1B	774	broad.mit.edu	37	chr9	141016245	141016245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgaggcctctgtccacGccctgcctgaggacactctc	10	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141016245G>A	ENST00000277549.5	+	47	6965	c.4396G>A	c.(4396-4398)Gcc>Acc	p.A1466T	CACNA1B_ENST00000371372.1_Missense_Mutation_p.A2272T|CACNA1B_ENST00000277551.2_Silent_p.T2209T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2271T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2270T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2273T			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2272					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTCTGTCCACGCCCTGCCTGA	0.647													False	0	True	9:141016245	0	A	141016245	G	A	141016245	3	1	88	1	0	0	0	0	1	0	0	0	2559	1087	38	1	6996	1	CACNA1B	9	141016245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302	141016245	197186	10340	18052											
ZMYND11	10771	broad.mit.edu	37	chr10	294415	294415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgcatcggagcacccAgaccacaaacgacggcgtgt	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:294415A>G	ENST00000309776.4	+	13	1795	c.1247A>G	c.(1246-1248)cAg>cGg	p.Q416R	ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000402736.1_Missense_Mutation_p.Q425R|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q376R|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q456R|ZMYND11_ENST00000397962.3_Missense_Mutation_p.Q456R|ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q455R|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q416R|ZMYND11_ENST00000397959.3_Missense_Mutation_p.Q371R|ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q439R|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q456R|ZMYND11_ENST00000545619.1_Missense_Mutation_p.Q336R|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q251R|ZMYND11_ENST00000602682.1_Missense_Mutation_p.Q371R|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q362R|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q416R	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	416	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGGAGCACCCAGACCACAAAC	0.502													False	0	True	10:294415	0	G	294415	A	G	294415	3	3	88	1	0	0	0	0	1	0	0	0	17789	188	7	4	1413	4	ZMYND11	10	294415	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08		294415	135240332	10341	18053											
ZMYND11	10771	broad.mit.edu	37	chr10	295039	295039	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagtgggtaaataccaGtcttttttagacccttattt	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:295039G>T	ENST00000381602.4	+	14	2125	c.1577G>T	c.(1576-1578)aGt>aTt	p.S526I	ZMYND11_ENST00000402736.1_Intron|ZMYND11_ENST00000309776.4_Intron|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000381591.1_Intron|ZMYND11_ENST00000397962.3_Intron|ZMYND11_ENST00000509513.2_Missense_Mutation_p.S565I|ZMYND11_ENST00000381604.4_Intron|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000381584.1_Intron|ZMYND11_ENST00000558098.2_Missense_Mutation_p.S566I|ZMYND11_ENST00000545619.1_Intron|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000381607.4_Intron	NM_212479.3	NP_997644.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	0	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTAAATACCAGTCTTTTTTAG	0.393													False	0	False	10:295039	0	T	295039	G	T	295039	3	4	88	1	0	0	0	0	1	0	0	0	17789	1029	36	3	1747	3	ZMYND11	10	295039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	624	295039	135239708	10342	18054											
DIP2C	22982	broad.mit.edu	37	chr10	395299	395299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaccaaggccacgtggtcGccgtcctgaaggtggcccct	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:395299G>A	ENST00000280886.6	-	25	3168	c.3081C>T	c.(3079-3081)ggC>ggT	p.G1027G		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1027						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCACGTGGTCGCCGTCCTGAA	0.647													False	0	False	10:395299	0	A	395299	G	A	395299	2	1	88	1	0	0	0	0	0	0	0	1	4559	1074	38	1		1	DIP2C	10	395299	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100260	395299	135139448	10343	18055											
DIP2C	22982	broad.mit.edu	37	chr10	395334	395334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccctctccatcagcatcaCggcgatcttctcagctctct	6	18	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:395334C>T	ENST00000280886.6	-	25	3133	c.3046G>A	c.(3046-3048)Gtg>Atg	p.V1016M		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1016						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCAGCATCACGGCGATCTTC	0.617													False	0	False	10:395334	0	T	395334	C	T	395334	3	4	88	1	0	0	0	0	1	0	0	0	4559	536	19	1	1676	1	DIP2C	10	395334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	395334	135139413	10344	18056											
DIP2C	22982	broad.mit.edu	37	chr10	410353	410353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgggttctacggccagcGcagtggccacgatgtcgtcg	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410353G>A	ENST00000280886.6	-	20	2525	c.2438C>T	c.(2437-2439)gCg>gTg	p.A813V	DIP2C_ENST00000540204.1_Missense_Mutation_p.A134V|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	813						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TACGGCCAGCGCAGTGGCCAC	0.577													False	0	False	10:410353	0	A	410353	G	A	410353	3	1	88	1	0	0	0	0	1	0	0	0	4559	1087	38	1	2304	1	DIP2C	10	410353	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15019	410353	135124394	10345	18057											
DIP2C	22982	broad.mit.edu	37	chr10	410407	410407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgctgaccaccatgaggCcatccatcttgcccaccacg	8	19	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410407C>T	ENST00000280886.6	-	20	2471	c.2384G>A	c.(2383-2385)gGc>gAc	p.G795D	DIP2C_ENST00000540204.1_Missense_Mutation_p.G116D|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	795						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCATGAGGCCATCCATCTT	0.617													False	0	True	10:410407	0	T	410407	C	T	410407	3	4	88	1	0	0	0	0	1	0	0	0	4559	739	26	2	2358	2	DIP2C	10	410407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54	410407	135124340	10346	18058											
DIP2C	22982	broad.mit.edu	37	chr10	410494	410494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgggtattcactgatcGgagccccggagcttgtcatg	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410494G>A	ENST00000280886.6	-	20	2384	c.2297C>T	c.(2296-2298)cCg>cTg	p.P766L	DIP2C_ENST00000540204.1_Missense_Mutation_p.P87L|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	766						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTCACTGATCGGAGCCCCGGA	0.577													False	0	False	10:410494	0	A	410494	G	A	410494	3	1	88	1	0	0	0	0	1	0	0	0	4559	1116	39	1	2445	1	DIP2C	10	410494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87	410494	135124253	10347	18059											
LARP4B	23185	broad.mit.edu	37	chr10	871234	871234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactaggaatcgcatgccGcagatgagatttactaggat	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:871234G>A	ENST00000316157.3	-	12	1295	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	419							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ATCGCATGCCGCAGATGAGAT	0.378													False	0	False	10:871234	0	A	871234	G	A	871234	3	1	88	1	0	0	0	0	1	0	0	0	8682	1086	38	1	985	1	LARP4B	10	871234	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	460740	871234	134663513	10348	18060											
IDI1	3422	broad.mit.edu	37	chr10	1088604	1088604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcctagctcagctttcaGccgtctctgtgctgctcgcc	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1088604G>A	ENST00000381344.3	-	4	671	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	112	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TCAGCTTTCAGCCGTCTCTGT	0.443													False	0	False	10:1088604	0	A	1088604	G	A	1088604	2	1	88	1	0	0	0	0	0	0	0	1	7549	962	34	2		2	IDI1	10	1088604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217370	1088604	134446143	10349	18061											
WDR37	22884	broad.mit.edu	37	chr10	1132252	1132252	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggctttgctgtggagcataGagacagggaagtgcctagtc	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1132252G>C	ENST00000358220.1	+	7	703	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	WDR37_ENST00000381329.1_Missense_Mutation_p.E187Q|WDR37_ENST00000263150.4_Missense_Mutation_p.E187Q			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	187										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GTGGAGCATAGAGACAGGGAA	0.483													False	0	False	10:1132252	0	C	1132252	G	C	1132252	3	2	88	1	0	0	0	0	1	0	0	0	17375	943	33	5	581	5	WDR37	10	1132252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43648	1132252	134402495	10350	18062											
WDR37	22884	broad.mit.edu	37	chr10	1175231	1175231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcacctgtgggtttgacCggcaagccattggttggaac	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1175231C>T	ENST00000358220.1	+	14	1576	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	WDR37_ENST00000263150.4_Missense_Mutation_p.R478W			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	478										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TGGGTTTGACCGGCAAGCCAT	0.502													False	0	False	10:1175231	0	T	1175231	C	T	1175231	3	4	88	1	0	0	0	0	1	0	0	0	17375	643	23	1	1482	1	WDR37	10	1175231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42979	1175231	134359516	10351	18063											
ADARB2	105	broad.mit.edu	37	chr10	1230812	1230812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgacctaccctgccatacaGccgcgcccaccgtgcagaca	9	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1230812G>A	ENST00000381312.1	-	9	2357	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	ADARB2_ENST00000381305.1_Silent_p.L80L|ADARB2_ENST00000381310.3_Silent_p.L187L	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	678	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTGCCATACAGCCGCGCCCAC	0.652													False	0	False	10:1230812	0	A	1230812	G	A	1230812	2	1	88	1	0	0	0	0	0	0	0	1	283	962	34	2		2	ADARB2	10	1230812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55581	1230812	134303935	10352	18064											
ADARB2	105	broad.mit.edu	37	chr10	1313190	1313190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcgctttatggcgggcGtgcatgggcgtgaggtccgt	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1313190G>A	ENST00000381312.1	-	4	1477	c.1152C>T	c.(1150-1152)caC>caT	p.H384H		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	384					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TATGGCGGGCGTGCATGGGCG	0.537													False	0	True	10:1313190	0	A	1313190	G	A	1313190	2	1	88	1	0	0	0	0	0	0	0	1	283	1136	40	1		1	ADARB2	10	1313190	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82378	1313190	134221557	10353	18065											
ADARB2	105	broad.mit.edu	37	chr10	1405926	1405926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagcgcgttcttgggcGccaccgaccacgacagcttc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1405926G>A	ENST00000381312.1	-	3	699	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	125	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTTCTTGGGCGCCACCGACCA	0.692													False	0	False	10:1405926	0	A	1405926	G	A	1405926	3	1	88	1	0	0	0	0	1	0	0	0	283	1087	38	1	1877	1	ADARB2	10	1405926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92736	1405926	134128821	10354	18066											
PITRM1	10531	broad.mit.edu	37	chr10	3189841	3189841	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgatggatgcgtacaGgtgcccagagtcaggaattc	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3189841G>A	ENST00000380989.2	-	19	2199	c.2161C>T	c.(2161-2163)Ctg>Ttg	p.L721L	PITRM1_ENST00000451104.2_Silent_p.L622L|PITRM1_ENST00000224949.4_Silent_p.L720L|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Silent_p.L278L|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	622					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GATGCGTACAGGTGCCCAGAG	0.592													False	0	False	10:3189841	0	A	3189841	G	A	3189841	2	1	88	1	0	0	0	0	0	0	0	1	12022	991	35	2		2	PITRM1	10	3189841	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1783915	3189841	132344906	10355	18067											
PITRM1	10531	broad.mit.edu	37	chr10	3191914	3191914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaccatgccattggtgggCtgggcgcagtactgaacagg	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3191914C>T	ENST00000380989.2	-	16	1808	c.1770G>A	c.(1768-1770)caG>caA	p.Q590Q	PITRM1_ENST00000451104.2_Silent_p.Q558Q|PITRM1_ENST00000224949.4_Silent_p.Q590Q|PITRM1_ENST00000380994.1_Silent_p.Q148Q|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	558					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CATTGGTGGGCTGGGCGCAGT	0.478													False	0	True	10:3191914	0	T	3191914	C	T	3191914	2	4	88	1	0	0	0	0	0	0	0	1	12022	796	28	2		2	PITRM1	10	3191914	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2073	3191914	132342833	10356	18068											
PITRM1	10531	broad.mit.edu	37	chr10	3205979	3205979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctcccatgtaagctcCgggatgcacagtgggtcacc	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3205979C>T	ENST00000380989.2	-	7	767	c.729G>A	c.(727-729)ccG>ccA	p.P243P	PITRM1_ENST00000451104.2_Silent_p.P211P|PITRM1_ENST00000224949.4_Silent_p.P243P|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	211					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ATGTAAGCTCCGGGATGCACA	0.483													False	0	True	10:3205979	0	T	3205979	C	T	3205979	2	4	88	1	0	0	0	0	0	0	0	1	12022	639	23	1		1	PITRM1	10	3205979	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14065	3205979	132328768	10357	18069											
PITRM1	10531	broad.mit.edu	37	chr10	3206051	3206051	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagtctgttctgaaggtgCtgggagaatatcctctcatt	11	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3206051C>A	ENST00000380989.2	-	7	695	c.657G>T	c.(655-657)caG>caT	p.Q219H	PITRM1_ENST00000451104.2_Missense_Mutation_p.Q187H|PITRM1_ENST00000224949.4_Missense_Mutation_p.Q219H|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	187					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TCTGAAGGTGCTGGGAGAATA	0.423													False	0	False	10:3206051	0	A	3206051	C	A	3206051	3	1	88	1	0	0	0	0	1	0	0	0	12022	796	28	3	2540	3	PITRM1	10	3206051	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72	3206051	132328696	10358	18070											
KLF6	1316	broad.mit.edu	37	chr10	3823892	3823892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtaaactttcctgcagCcgttaaagtggcaccggtgc	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3823892C>T	ENST00000497571.1	-	2	877	c.617G>A	c.(616-618)gGc>gAc	p.G206D	KLF6_ENST00000173785.4_Intron|KLF6_ENST00000542957.1_Missense_Mutation_p.G206D|KLF6_ENST00000469435.1_Missense_Mutation_p.G206D	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	206					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TTTCCTGCAGCCGTTAAAGTG	0.657											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	10:3823892	0	T	3823892	C	T	3823892	3	4	88	1	0	0	0	0	1	0	0	0	8400	739	26	2	246	2	KLF6	10	3823892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	617841	3823892	131710855	10359	18071											
AKR1C1	1645	broad.mit.edu	37	chr10	5014837	5014837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgccttggcaaaaaagCacaagcgaaccccagccctg	9	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5014837C>T	ENST00000380872.4	+	7	934	c.742C>T	c.(742-744)Cac>Tac	p.H248Y	AKR1C1_ENST00000434459.2_Missense_Mutation_p.H248Y|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						GGCAAAAAAGCACAAGCGAAC	0.597													False	0	False	10:5014837	0	T	5014837	C	T	5014837	3	4	88	1	0	0	0	0	1	0	0	0	469	710	25	2	768	2	AKR1C1	10	5014837	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1190945	5014837	130519910	10360	18072											
AKR1C3	8644	broad.mit.edu	37	chr10	5147842	5147842	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccatagatggcctagacaGaaatctccactattttaaca	6	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5147842G>A	ENST00000380554.3	+	8	1554	c.902G>A	c.(901-903)aGa>aAa	p.R301K	AKR1C3_ENST00000605149.1_Missense_Mutation_p.R278K|AKR1C3_ENST00000439082.2_Missense_Mutation_p.R182K	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	301					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GGCCTAGACAGAAATCTCCAC	0.358													False	0	True	10:5147842	0	A	5147842	G	A	5147842	3	1	88	1	0	0	0	0	1	0	0	0	471	942	33	2	932	2	AKR1C3	10	5147842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133005	5147842	130386905	10361	18073											
AKR1C4	1109	broad.mit.edu	37	chr10	5247767	5247767	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaatggaaaagtaatattCgacacagtggatctctctgc	9	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5247767C>T	ENST00000380448.1	+	6	670	c.417C>T	c.(415-417)ttC>ttT	p.F139F	AKR1C4_ENST00000263126.1_Silent_p.F139F			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	139					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	p.F139F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	AAGTAATATTCGACACAGTGG	0.448													False	0	False	10:5247767	0	T	5247767	C	T	5247767	2	4	88	1	0	0	0	0	0	0	0	1	472	883	31	1		1	AKR1C4	10	5247767	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99925	5247767	130286980	10362	18074											
TUBAL3	79861	broad.mit.edu	37	chr10	5435806	5435806	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcgacttcgtggctgcgaTtgctgcattcacttccttgg	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5435806T>G	ENST00000380419.3	-	4	1052	c.1015A>C	c.(1015-1017)Atc>Ctc	p.I339L	TUBAL3_ENST00000479328.1_Missense_Mutation_p.I299L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	339					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GTGGCTGCGATTGCTGCATTC	0.557													False	0	False	10:5435806	0	G	5435806	T	G	5435806	3	3	88	1	0	0	0	0	1	0	0	0	16835	1493	52	4	329	4	TUBAL3	10	5435806	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	188039	5435806	130098941	10363	18075											
NET1	10276	broad.mit.edu	37	chr10	5498209	5498209	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagaatgggaggctcctttCgaggagctttcagtaactca	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5498209C>T	ENST00000355029.4	+	11	1499	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	NET1_ENST00000542715.1_Nonsense_Mutation_p.R272*|NET1_ENST00000380359.3_Nonsense_Mutation_p.R399*|NET1_ENST00000484741.1_3'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	453	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGGCTCCTTTCGAGGAGCTTT	0.448													False	0	True	10:5498209	0	T	5498209	C	T	5498209	4	4	88	1	0	0	0	0	0	1	0	0	10406	876	31	1	1496	1	NET1	10	5498209	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62403	5498209	130036538	10364	18076											
CALML3	810	broad.mit.edu	37	chr10	5566985	5566985	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctgggacagcagccggGctgcggcactgggagggaga	20	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5566985G>A	ENST00000315238.1	+	0	62				RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3								calcium ion binding			endometrium(3)|lung(2)	5						CAGCAGCCGGGCTGCGGCACT	0.682													False	0	True	10:5566985	0	A	5566985	G	A	5566985	1	1	88	1	0	0	0	0	0	0	0	0	2607	1218	42	2		2	CALML3	10	5566985	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68776	5566985	129967762	10365	18077											
GDI2	2665	broad.mit.edu	37	chr10	5810310	5810310	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctacccgatcttttacgTagctggggtcacagatgagc	10	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5810310T>C	ENST00000380191.4	-	8	1147	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	GDI2_ENST00000380181.3_Missense_Mutation_p.Y241C|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.Y290C	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	286					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ATCTTTTACGTAGCTGGGGTC	0.468													False	0	False	10:5810310	0	C	5810310	T	C	5810310	3	2	88	1	0	0	0	0	1	0	0	0	6366	1638	57	4	496	4	GDI2	10	5810310	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	243325	5810310	129724437	10366	18078											
FBXO18	84893	broad.mit.edu	37	chr10	5945034	5945034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgactgccagcatttggCtcggagtcacttggctgtga	12	10	1	2	rs146471049		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5945034C>T	ENST00000379999.5	+	3	310	c.206C>T	c.(205-207)gCt>gTt	p.A69V	FBXO18_ENST00000362091.4_Missense_Mutation_p.A18V|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_Intron	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	18					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAGCATTTGGCTCGGAGTCAC	0.473													False	0	False	10:5945034	0	T	5945034	C	T	5945034	3	4	88	1	0	0	0	0	1	0	0	0	5771	797	28	2	221	2	FBXO18	10	5945034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134724	5945034	129589713	10367	18079											
FBXO18	84893	broad.mit.edu	37	chr10	5948357	5948357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagaggacagtacgtctcGgctctctgcggagtctggtg	15	10	3	1	rs145958035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5948357G>A	ENST00000379999.5	+	4	772	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	FBXO18_ENST00000362091.4_Missense_Mutation_p.R172Q|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	172					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGTACGTCTCGGCTCTCTGCG	0.572													False	0	False	10:5948357	0	A	5948357	G	A	5948357	3	1	88	1	0	0	0	0	1	0	0	0	5771	1116	39	1	687	1	FBXO18	10	5948357	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3323	5948357	129586390	10368	18080											
PFKFB3	5209	broad.mit.edu	37	chr10	6274895	6274895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcgctgactcctccaGgaaacactgaggcagacgtg	13	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:6274895G>T	ENST00000379775.4	+	15	1883	c.1553G>T	c.(1552-1554)aGg>aTg	p.R518M	PFKFB3_ENST00000379789.4_Missense_Mutation_p.R498M|PFKFB3_ENST00000379785.1_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R532M|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000360521.2_3'UTR	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	518	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GACTCCTCCAGGAAACACTGA	0.517													False	0	False	10:6274895	0	T	6274895	G	T	6274895	3	4	88	1	0	0	0	0	1	0	0	0	11831	1000	35	3	1631	3	PFKFB3	10	6274895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326538	6274895	129259852	10369	18081											
PRKCQ	5588	broad.mit.edu	37	chr10	6483904	6483904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccaccgtgggtaaaagGgattgtccatgcggatggag	15	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:6483904G>A	ENST00000263125.5	-	16	1886	c.1787C>T	c.(1786-1788)cCc>cTc	p.P596L	PRKCQ_ENST00000539722.1_Missense_Mutation_p.P471L|PRKCQ_ENST00000397176.2_Intron	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	596	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGGGTAAAAGGGATTGTCCAT	0.522													False	0	True	10:6483904	0	A	6483904	G	A	6483904	3	1	88	1	0	0	0	0	1	0	0	0	12591	1232	43	2	345	2	PRKCQ	10	6483904	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209009	6483904	129050843	10370	18082											
SFMBT2	57713	broad.mit.edu	37	chr10	7230594	7230594	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaaacacttacttggccttCagcgtctcttcctggaaatt	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7230594C>T	ENST00000361972.4	-	16	1890	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	SFMBT2_ENST00000397167.1_Silent_p.L600L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	600					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACTTGGCCTTCAGCGTCTCTT	0.443													False	0	False	10:7230594	0	T	7230594	C	T	7230594	2	4	88	1	0	0	0	0	0	0	0	1	14239	813	29	2		2	SFMBT2	10	7230594	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	746690	7230594	128304153	10371	18083											
SFMBT2	57713	broad.mit.edu	37	chr10	7244459	7244459	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactgtttctctggttgcacGactgcaatctttctcttctt	6	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7244459G>A	ENST00000361972.4	-	13	1560	c.1470C>T	c.(1468-1470)gtC>gtT	p.V490V	SFMBT2_ENST00000397167.1_Silent_p.V490V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	490					regulation of transcription, DNA-dependent	nucleus		p.V490V(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGGTTGCACGACTGCAATCT	0.398													False	0	False	10:7244459	0	A	7244459	G	A	7244459	2	1	88	1	0	0	0	0	0	0	0	1	14239	1045	37	1		1	SFMBT2	10	7244459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13865	7244459	128290288	10372	18084											
SFMBT2	57713	broad.mit.edu	37	chr10	7285598	7285598	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaagaatctgcatggcacaGcattgacagtttacttggtt	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7285598G>T	ENST00000361972.4	-	9	1132	c.1042C>A	c.(1042-1044)Ctg>Atg	p.L348M	SFMBT2_ENST00000397167.1_Missense_Mutation_p.L348M	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	348					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCATGGCACAGCATTGACAGT	0.408													False	0	False	10:7285598	0	T	7285598	G	T	7285598	3	4	88	1	0	0	0	0	1	0	0	0	14239	962	34	3	1694	3	SFMBT2	10	7285598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41139	7285598	128249149	10373	18085											
SFMBT2	57713	broad.mit.edu	37	chr10	7326106	7326106	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctatagggcctttccctcGcagaggctgtttaaacagaa	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7326106G>A	ENST00000361972.4	-	6	622	c.532C>T	c.(532-534)Cga>Tga	p.R178*	SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.R178*	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	178					regulation of transcription, DNA-dependent	nucleus		p.R178*(2)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCTTTCCCTCGCAGAGGCTGT	0.368													False	0	False	10:7326106	0	A	7326106	G	A	7326106	4	1	88	1	0	0	0	0	0	1	0	0	14239	1095	38	1	2216	1	SFMBT2	10	7326106	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40508	7326106	128208641	10374	18086											
ITIH5	80760	broad.mit.edu	37	chr10	7605113	7605113	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atggatggaatgccaggtaaTccttgtactccccgtcaatc	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7605113T>G	ENST00000256861.6	-	14	2840	c.2762A>C	c.(2761-2763)gAt>gCt	p.D921A	ITIH5_ENST00000446830.2_Missense_Mutation_p.D703A|ITIH5_ENST00000298441.6_Missense_Mutation_p.D707A|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	921					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGCCAGGTAATCCTTGTACTC	0.512													False	0	False	10:7605113	0	G	7605113	T	G	7605113	3	3	88	1	0	0	0	0	1	0	0	0	7957	1435	50	4	112	4	ITIH5	10	7605113	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	279007	7605113	127929634	10375	18087											
ITIH5	80760	broad.mit.edu	37	chr10	7618934	7618934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggggggataatcgatgCggatgtcagagaggagcggg	20	5	1	1	rs112992012	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7618934C>T	ENST00000256861.6	-	10	1538	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	ITIH5_ENST00000446830.2_Missense_Mutation_p.R269H|ITIH5_ENST00000298441.6_Missense_Mutation_p.R273H|ITIH5_ENST00000397146.2_Missense_Mutation_p.R487H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.R487H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	487					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.R487H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATAATCGATGCGGATGTCAGA	0.592													False	0	False	10:7618934	0	T	7618934	C	T	7618934	3	4	88	1	0	0	0	0	1	0	0	0	7957	768	27	1	1511	1	ITIH5	10	7618934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13821	7618934	127915813	10376	18088											
ITIH5	80760	broad.mit.edu	37	chr10	7682770	7682770	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttaccctatcaccactcttCttttctctctctgtaatttc	1	14	5	0	rs146396908	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7682770C>A	ENST00000256861.6	-	4	426	c.348G>T	c.(346-348)aaG>aaT	p.K116N	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.K116N|ITIH5_ENST00000397145.2_Missense_Mutation_p.K116N	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	116	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CACCACTCTTCTTTTCTCTCT	0.373													False	0	True	10:7682770	0	A	7682770	C	A	7682770	3	1	88	1	0	0	0	0	1	0	0	0	7957	912	32	3	2661	3	ITIH5	10	7682770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63836	7682770	127851977	10377	18089											
ITIH5	80760	broad.mit.edu	37	chr10	7682790	7682790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttttctctctctgtaatttCgccctgatacaccttgtctc	4	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7682790C>T	ENST00000256861.6	-	4	406	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.E110K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E110K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	110	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTGTAATTTCGCCCTGATAC	0.373													False	0	True	10:7682790	0	T	7682790	C	T	7682790	3	4	88	1	0	0	0	0	1	0	0	0	7957	893	31	1	2681	1	ITIH5	10	7682790	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	7682790	127851957	10378	18090											
ITIH5	80760	broad.mit.edu	37	chr10	7683960	7683960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcctggtcttcagaagCtctgttcagcattctgcagg	10	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7683960C>T	ENST00000256861.6	-	3	307	c.229G>A	c.(229-231)Gct>Act	p.A77T	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.A77T|ITIH5_ENST00000397145.2_Missense_Mutation_p.A77T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	77	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTTCAGAAGCTCTGTTCAGC	0.458													False	0	False	10:7683960	0	T	7683960	C	T	7683960	3	4	88	1	0	0	0	0	1	0	0	0	7957	797	28	2	2784	2	ITIH5	10	7683960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1170	7683960	127850787	10379	18091											
ITIH2	3698	broad.mit.edu	37	chr10	7762890	7762890	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacacatttgaaggccatttCgatggtgttccggtcatttc	10	9	1	1	rs148694864	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7762890C>T	ENST00000358415.4	+	7	868	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ITIH2_ENST00000379587.4_Silent_p.F223F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	234					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.F234F(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGGCCATTTCGATGGTGTTC	0.483													False	0	True	10:7762890	0	T	7762890	C	T	7762890	2	4	88	1	0	0	0	0	0	0	0	1	7954	883	31	1		1	ITIH2	10	7762890	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78930	7762890	127771857	10380	18092											
ITIH2	3698	broad.mit.edu	37	chr10	7776892	7776892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgaatacagaagcctgGctcctacagctgccgccaag	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7776892G>A	ENST00000358415.4	+	15	1961	c.1795G>A	c.(1795-1797)Gct>Act	p.A599T	ITIH2_ENST00000379587.4_Missense_Mutation_p.A588T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	599					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAGAAGCCTGGCTCCTACAGC	0.552													False	0	False	10:7776892	0	A	7776892	G	A	7776892	3	1	88	1	0	0	0	0	1	0	0	0	7954	1203	42	2	1853	2	ITIH2	10	7776892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14002	7776892	127757855	10381	18093											
ITIH2	3698	broad.mit.edu	37	chr10	7786082	7786082	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcttgttggtgccaagaaGcccaacaatggaaaactaag	10	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7786082G>T	ENST00000358415.4	+	18	2413	c.2247G>T	c.(2245-2247)aaG>aaT	p.K749N	ITIH2_ENST00000379587.4_Missense_Mutation_p.K738N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	749					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGCCAAGAAGCCCAACAATG	0.383													False	0	True	10:7786082	0	T	7786082	G	T	7786082	3	4	88	1	0	0	0	0	1	0	0	0	7954	962	34	3	2317	3	ITIH2	10	7786082	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9190	7786082	127748665	10382	18094											
ITIH2	3698	broad.mit.edu	37	chr10	7788631	7788631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgagaagccagaggccaGcatggaagtgaaggggcaga	16	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7788631G>T	ENST00000358415.4	+	20	2823	c.2657G>T	c.(2656-2658)aGc>aTc	p.S886I	ITIH2_ENST00000379587.4_Missense_Mutation_p.S875I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	886					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCAGAGGCCAGCATGGAAGTG	0.498													False	0	False	10:7788631	0	T	7788631	G	T	7788631	3	4	88	1	0	0	0	0	1	0	0	0	7954	971	34	3	2735	3	ITIH2	10	7788631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2549	7788631	127746116	10383	18095											
ATP5C1	509	broad.mit.edu	37	chr10	7840983	7840983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagctgatatcaaggggcCtgaagacaagaagaaacacc	10	8	1	5	rs146307767	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7840983C>T	ENST00000356708.7	+	4	333	c.254C>T	c.(253-255)cCt>cTt	p.P85L	ATP5C1_ENST00000541227.1_Missense_Mutation_p.P38L|ATP5C1_ENST00000335698.4_Missense_Mutation_p.P85L|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	85					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						ATCAAGGGGCCTGAAGACAAG	0.358													False	0	False	10:7840983	0	T	7840983	C	T	7840983	3	4	88	1	0	0	0	0	1	0	0	0	1153	681	24	2	268	2	ATP5C1	10	7840983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52352	7840983	127693764	10384	18096											
TAF3	83860	broad.mit.edu	37	chr10	8006790	8006790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcccaaagcttccacttcCgcgaacaatttcacaaagtc	4	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8006790C>T	ENST00000344293.5	+	3	1523	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	439					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCCACTTCCGCGAACAATT	0.468													False	0	False	10:8006790	0	T	8006790	C	T	8006790	2	4	88	1	0	0	0	0	0	0	0	1	15607	639	23	1		1	TAF3	10	8006790	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165807	8006790	127527957	10385	18097											
TAF3	83860	broad.mit.edu	37	chr10	8051129	8051129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgccggcccccgcgcccGcccccggccccatgctcgtc	10	26	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8051129G>A	ENST00000344293.5	+	5	2610	c.2404G>A	c.(2404-2406)Gcc>Acc	p.A802T		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	802	Pro-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						ccccgcgcccgcccccggccc	0.771													False	0	True	10:8051129	0	A	8051129	G	A	8051129	3	1	88	1	0	0	0	0	1	0	0	0	15607	1087	38	1	2422	1	TAF3	10	8051129	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44339	8051129	127483618	10386	18098											
GATA3	2625	broad.mit.edu	37	chr10	8115837	8115837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctcgtttaacccggccGccctctccagacacatgtcc	7	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8115837G>A	ENST00000379328.3	+	6	1754	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	GATA3_ENST00000346208.3_Missense_Mutation_p.A395T|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	395					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TAACCCGGCCGCCCTCTCCAG	0.562			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						False	0	True	10:8115837	0	A	8115837	G	A	8115837	3	1	88	1	0	0	0	0	1	0	0	0	6298	1087	38	1	1204	1	GATA3	10	8115837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64708	8115837	127418910	10387	18099											
CELF2	10659	broad.mit.edu	37	chr10	11312657	11312657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcacctatcgtggtgaagtTtgctgacactcagaaggaca	10	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11312657T>C	ENST00000379261.4	+	7	718	c.626T>C	c.(625-627)tTt>tCt	p.F209S	CELF2_ENST00000608830.1_Missense_Mutation_p.F185S|CELF2_ENST00000315874.4_Missense_Mutation_p.F185S|CELF2_ENST00000354440.2_Missense_Mutation_p.F185S|CELF2_ENST00000450189.1_Missense_Mutation_p.F216S|CELF2_ENST00000542579.1_Missense_Mutation_p.F216S|CELF2_ENST00000354897.3_Missense_Mutation_p.F185S|CELF2_ENST00000399850.3_Missense_Mutation_p.F185S|CELF2_ENST00000427450.1_Missense_Mutation_p.F185S|CELF2_ENST00000537122.1_Missense_Mutation_p.F98S|CELF2_ENST00000416382.2_Missense_Mutation_p.F209S|CELF2_ENST00000609692.1_Missense_Mutation_p.F185S|CELF2_ENST00000417956.2_Missense_Mutation_p.F185S	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	209	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GTGGTGAAGTTTGCTGACACT	0.582											OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	10:11312657	0	C	11312657	T	C	11312657	3	2	88	1	0	0	0	0	1	0	0	0	3239	1841	64	4	730	4	CELF2	10	11312657	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3196820	11312657	124222090	10388	18100											
CELF2	10659	broad.mit.edu	37	chr10	11363230	11363230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgaatggcacggctggcaCcatggacgccctcacccagg	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11363230C>T	ENST00000379261.4	+	11	1228	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I	CELF2_ENST00000608830.1_Missense_Mutation_p.T359I|CELF2_ENST00000315874.4_Missense_Mutation_p.T361I|CELF2_ENST00000354440.2_Missense_Mutation_p.T361I|CELF2_ENST00000450189.1_Missense_Mutation_p.T392I|CELF2_ENST00000542579.1_Missense_Mutation_p.T392I|CELF2_ENST00000354897.3_Missense_Mutation_p.T373I|CELF2_ENST00000399850.3_Missense_Mutation_p.T361I|CELF2_ENST00000427450.1_Missense_Mutation_p.T361I|CELF2_ENST00000537122.1_Missense_Mutation_p.T274I|CELF2_ENST00000416382.2_Missense_Mutation_p.T379I|CELF2_ENST00000609692.1_Missense_Mutation_p.T359I|CELF2_ENST00000417956.2_Missense_Mutation_p.T359I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	379	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ACGGCTGGCACCATGGACGCC	0.577													False	0	False	10:11363230	0	T	11363230	C	T	11363230	3	4	88	1	0	0	0	0	1	0	0	0	3239	507	18	2	1286	2	CELF2	10	11363230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50573	11363230	124171517	10389	18101											
USP6NL	9712	broad.mit.edu	37	chr10	11504924	11504924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtagaaccatgaggtctcCtggaaggattcagttgagtc	13	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11504924C>A	ENST00000609104.1	-	15	2397	c.2003G>T	c.(2002-2004)aGg>aTg	p.R668M	USP6NL_ENST00000277575.5_Missense_Mutation_p.R685M|USP6NL_ENST00000379237.2_Missense_Mutation_p.R691M	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like							intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						ATGAGGTCTCCTGGAAGGATT	0.532													False	0	False	10:11504924	0	A	11504924	C	A	11504924	3	1	88	1	0	0	0	0	1	0	0	0	17171	681	24	3	487	3	USP6NL	10	11504924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141694	11504924	124029823	10390	18102											
USP6NL	9712	broad.mit.edu	37	chr10	11523859	11523859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcatcttcaaagaaaaaatCctttgccagggtctcctgaa	6	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11523859C>T	ENST00000609104.1	-	14	1382	c.988G>A	c.(988-990)Gat>Aat	p.D330N	USP6NL_ENST00000277575.5_Missense_Mutation_p.D347N|USP6NL_ENST00000379237.2_Missense_Mutation_p.D353N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like							intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGAAAAAATCCTTTGCCAGG	0.353													False	0	False	10:11523859	0	T	11523859	C	T	11523859	3	4	88	1	0	0	0	0	1	0	0	0	17171	855	30	2	1506	2	USP6NL	10	11523859	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18935	11523859	124010888	10391	18103											
ECHDC3	79746	broad.mit.edu	37	chr10	11797423	11797423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtcatgatgcacatccGgaaccaccccgttcccgtca	9	16	2	1	rs144927894		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11797423G>A	ENST00000379215.4	+	4	618	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	136						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						ATGCACATCCGGAACCACCCC	0.537													False	0	False	10:11797423	0	A	11797423	G	A	11797423	3	1	88	1	0	0	0	0	1	0	0	0	4925	1116	39	1	421	1	ECHDC3	10	11797423	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273564	11797423	123737324	10392	18104											
ECHDC3	79746	broad.mit.edu	37	chr10	11805264	11805264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggtgagcccatttctgcCcaggaggccctgctccacgg	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11805264C>T	ENST00000379215.4	+	5	844	c.633C>T	c.(631-633)gcC>gcT	p.A211A	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	211						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						CCATTTCTGCCCAGGAGGCCC	0.637													False	0	True	10:11805264	0	T	11805264	C	T	11805264	2	4	88	1	0	0	0	0	0	0	0	1	4925	610	22	2		2	ECHDC3	10	11805264	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7841	11805264	123729483	10393	18105											
UPF2	26019	broad.mit.edu	37	chr10	11984744	11984744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtacatgcttaagtccacCgcctttaatcattacctcct	5	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11984744C>T	ENST00000356352.2	-	17	3771	c.3298G>A	c.(3298-3300)Ggt>Agt	p.G1100S	UPF2_ENST00000397053.2_Missense_Mutation_p.G1100S|UPF2_ENST00000357604.5_Missense_Mutation_p.G1100S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1100	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTAAGTCCACCGCCTTTAATC	0.333													False	0	False	10:11984744	0	T	11984744	C	T	11984744	3	4	88	1	0	0	0	0	1	0	0	0	17088	652	23	1	540	1	UPF2	10	11984744	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179480	11984744	123550003	10394	18106											
UPF2	26019	broad.mit.edu	37	chr10	11997479	11997479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttggcactgctgatgcGcctctgattaaatttaggtt	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11997479G>A	ENST00000356352.2	-	13	3075	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	UPF2_ENST00000397053.2_Missense_Mutation_p.R868C|UPF2_ENST00000357604.5_Missense_Mutation_p.R868C			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	868	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTGCTGATGCGCCTCTGATTA	0.358													False	0	False	10:11997479	0	A	11997479	G	A	11997479	3	1	88	1	0	0	0	0	1	0	0	0	17088	1087	38	1	1252	1	UPF2	10	11997479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12735	11997479	123537268	10395	18107											
UPF2	26019	broad.mit.edu	37	chr10	12070779	12070779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattctggagctccctgtgGtcccttttcaggtgtttggt	12	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12070779G>A	ENST00000356352.2	-	2	1583	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D	UPF2_ENST00000397053.2_Silent_p.D370D|UPF2_ENST00000357604.5_Silent_p.D370D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	370	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GCTCCCTGTGGTCCCTTTTCA	0.368													False	0	False	10:12070779	0	A	12070779	G	A	12070779	2	1	88	1	0	0	0	0	0	0	0	1	17088	1252	44	2		2	UPF2	10	12070779	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73300	12070779	123463968	10396	18108											
SEC61A2	55176	broad.mit.edu	37	chr10	12197864	12197864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatttccctctttattGccaccaacatctgtgagacc	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12197864G>A	ENST00000379033.3	+	6	631	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	SEC61A2_ENST00000304267.8_Missense_Mutation_p.A184T|SEC61A2_ENST00000298428.9_Missense_Mutation_p.A184T|SEC61A2_ENST00000379020.4_Missense_Mutation_p.A184T|SEC61A2_ENST00000495368.1_3'UTR	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	184						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CCTCTTTATTGCCACCAACAT	0.498													False	0	False	10:12197864	0	A	12197864	G	A	12197864	3	1	88	1	0	0	0	0	1	0	0	0	14082	1319	46	2	576	2	SEC61A2	10	12197864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127085	12197864	123336883	10397	18109											
SEC61A2	55176	broad.mit.edu	37	chr10	12204260	12204260	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggtaatgaggggccaccgaGatacctctatggttcatgag	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12204260G>A	ENST00000379033.3	+	10	1297	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	SEC61A2_ENST00000304267.8_Missense_Mutation_p.D406N|SEC61A2_ENST00000298428.9_Missense_Mutation_p.D406N|SEC61A2_ENST00000379020.4_Missense_Mutation_p.D340N|SEC61A2_ENST00000495368.1_3'UTR	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	406						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGGCCACCGAGATACCTCTAT	0.428													False	0	False	10:12204260	0	A	12204260	G	A	12204260	3	1	88	1	0	0	0	0	1	0	0	0	14082	942	33	2	1258	2	SEC61A2	10	12204260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6396	12204260	123330487	10398	18110											
CAMK1D	57118	broad.mit.edu	37	chr10	12708741	12708741	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attttttttttcaggattaaGcatgaaaatattgttgccct	6	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12708741G>T	ENST00000378847.3	+	3	568	c.231G>T	c.(229-231)aaG>aaT	p.K77N	CAMK1D_ENST00000378845.1_Missense_Mutation_p.K77N|CAMK1D_ENST00000487696.1_3'UTR	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	77	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCAGGATTAAGCATGAAAATA	0.338													False	0	False	10:12708741	0	T	12708741	G	T	12708741	3	4	88	1	0	0	0	0	1	0	0	0	2617	962	34	3	241	3	CAMK1D	10	12708741	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	504481	12708741	122826006	10399	18111											
CAMK1D	57118	broad.mit.edu	37	chr10	12858268	12858268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaagacttcattcggaaCctgatggagaaggacccgaa	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12858268C>T	ENST00000378847.3	+	8	1111	c.774C>T	c.(772-774)aaC>aaT	p.N258N	CAMK1D_ENST00000378845.1_Silent_p.N258N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	258	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCATTCGGAACCTGATGGAGA	0.488													False	0	False	10:12858268	0	T	12858268	C	T	12858268	2	4	88	1	0	0	0	0	0	0	0	1	2617	506	18	2		2	CAMK1D	10	12858268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149527	12858268	122676479	10400	18112											
MCM10	55388	broad.mit.edu	37	chr10	13246275	13246275	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcagtgagcagcatgaataCcactggcatgatggtgtgaa	13	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13246275C>A	ENST00000378694.1	+	17	2484	c.2409C>A	c.(2407-2409)taC>taA	p.Y803*	MCM10_ENST00000484800.2_Nonsense_Mutation_p.Y804*|MCM10_ENST00000378714.3_Nonsense_Mutation_p.Y803*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	804					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGCATGAATACCACTGGCATG	0.512													False	0	False	10:13246275	0	A	13246275	C	A	13246275	4	1	88	1	0	0	0	0	0	1	0	0	9452	518	18	3	2478	3	MCM10	10	13246275	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	388007	13246275	122288472	10401	18113											
UCMA	221044	broad.mit.edu	37	chr10	13276255	13276255	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggacggcctgtctccaagTcatctttgcagaggtagggg	14	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13276255T>G	ENST00000378681.3	-	1	76	c.4A>C	c.(4-6)Act>Cct	p.T2P	UCMA_ENST00000463405.2_Missense_Mutation_p.T2P	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	2						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGTCTCCAAGTCATCTTTGCA	0.602													False	0	False	10:13276255	0	G	13276255	T	G	13276255	3	3	88	1	0	0	0	0	1	0	0	0	17010	1667	58	4	432	4	UCMA	10	13276255	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29980	13276255	122258492	10402	18114											
PHYH	5264	broad.mit.edu	37	chr10	13323092	13323092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtggcaatcggcactggCgaaatggcaggaaattgcct	14	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13323092C>T	ENST00000396920.3	-	8	1200	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	PHYH_ENST00000396913.2_Missense_Mutation_p.A183T|PHYH_ENST00000263038.4_Missense_Mutation_p.A283T			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	283					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TCGGCACTGGCGAAATGGCAG	0.418													False	0	False	10:13323092	0	T	13323092	C	T	13323092	3	4	88	1	0	0	0	0	1	0	0	0	11933	768	27	1	177	1	PHYH	10	13323092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46837	13323092	122211655	10403	18115											
PHYH	5264	broad.mit.edu	37	chr10	13330532	13330532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcagggggtgacgggacGtcttcttgcctgaaaagaaa	16	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13330532G>A	ENST00000396920.3	-	6	859	c.455C>T	c.(454-456)aCg>aTg	p.T152M	PHYH_ENST00000396913.2_Missense_Mutation_p.T69M|PHYH_ENST00000263038.4_Missense_Mutation_p.T169M			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	169					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GTGACGGGACGTCTTCTTGCC	0.542													False	0	False	10:13330532	0	A	13330532	G	A	13330532	3	1	88	1	0	0	0	0	1	0	0	0	11933	1145	40	1	526	1	PHYH	10	13330532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7440	13330532	122204215	10404	18116											
BEND7	222389	broad.mit.edu	37	chr10	13489312	13489312	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtctttcatcactgtccgcGatctctgctggttacaaaca	7	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13489312G>A	ENST00000341083.3	-	8	1331	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	BEND7_ENST00000396900.2_Silent_p.I396I|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000378605.3_Silent_p.I357I|BEND7_ENST00000396898.2_Silent_p.I409I	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	396	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CACTGTCCGCGATCTCTGCTG	0.383													False	0	False	10:13489312	0	A	13489312	G	A	13489312	2	1	88	1	0	0	0	0	0	0	0	1	1407	1048	37	1		1	BEND7	10	13489312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158780	13489312	122045435	10405	18117											
BEND7	222389	broad.mit.edu	37	chr10	13542030	13542030	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccagtgctgtcgttcaGcaatcttctcatccctgtaa	7	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13542030G>T	ENST00000341083.3	-	3	336	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	BEND7_ENST00000396900.2_Missense_Mutation_p.L66M|BEND7_ENST00000378605.3_Missense_Mutation_p.L14M|BEND7_ENST00000396898.2_Missense_Mutation_p.L66M	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	66							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CTGTCGTTCAGCAATCTTCTC	0.433													False	0	False	10:13542030	0	T	13542030	G	T	13542030	3	4	88	1	0	0	0	0	1	0	0	0	1407	962	34	3	1445	3	BEND7	10	13542030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52718	13542030	121992717	10406	18118											
PRPF18	8559	broad.mit.edu	37	chr10	13639487	13639487	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatatttcaagcgtagtgaGctcgccaaaaaagaagagga	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13639487G>A	ENST00000378572.3	+	2	256	c.96G>A	c.(94-96)gaG>gaA	p.E32E		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	32					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AGCGTAGTGAGCTCGCCAAAA	0.279													False	0	False	10:13639487	0	A	13639487	G	A	13639487	2	1	88	1	0	0	0	0	0	0	0	1	12639	962	34	2		2	PRPF18	10	13639487	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97457	13639487	121895260	10407	18119											
FRMD4A	55691	broad.mit.edu	37	chr10	13698655	13698655	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctgacgtggccttgcacatCtggggcatcctggtgaccct	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13698655C>A	ENST00000357447.2	-	22	3302	c.2934G>T	c.(2932-2934)caG>caT	p.Q978H	FRMD4A_ENST00000378503.1_Missense_Mutation_p.Q978H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.Q963H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	978	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCTTGCACATCTGGGGCATCC	0.667													False	0	False	10:13698655	0	A	13698655	C	A	13698655	3	1	88	1	0	0	0	0	1	0	0	0	6093	912	32	3	197	3	FRMD4A	10	13698655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59168	13698655	121836092	10408	18120											
FRMD4A	55691	broad.mit.edu	37	chr10	13699307	13699307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttggcgttcatctgcgccGggtagtagtgctccgagctc	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13699307G>A	ENST00000357447.2	-	22	2650	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	FRMD4A_ENST00000378503.1_Missense_Mutation_p.P761L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P746L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	761						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CATCTGCGCCGGGTAGTAGTG	0.692													False	0	True	10:13699307	0	A	13699307	G	A	13699307	3	1	88	1	0	0	0	0	1	0	0	0	6093	1116	39	1	849	1	FRMD4A	10	13699307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	652	13699307	121835440	10409	18121											
FRMD4A	55691	broad.mit.edu	37	chr10	13699468	13699468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactccaggctggagctccgGtgcctaaagtgcagtgcgag	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13699468G>A	ENST00000357447.2	-	22	2489	c.2121C>T	c.(2119-2121)caC>caT	p.H707H	FRMD4A_ENST00000378503.1_Silent_p.H707H|FRMD4A_ENST00000358621.4_Silent_p.H692H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	707	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGGAGCTCCGGTGCCTAAAGT	0.682													False	0	False	10:13699468	0	A	13699468	G	A	13699468	2	1	88	1	0	0	0	0	0	0	0	1	6093	1252	44	2		2	FRMD4A	10	13699468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	13699468	121835279	10410	18122											
FRMD4A	55691	broad.mit.edu	37	chr10	13743470	13743470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaacgtcctccttgtcActgaagccctggggaagcaa	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13743470A>G	ENST00000357447.2	-	14	1213	c.845T>C	c.(844-846)gTg>gCg	p.V282A	FRMD4A_ENST00000342409.2_Missense_Mutation_p.V298A|FRMD4A_ENST00000378503.1_Missense_Mutation_p.V282A|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000358621.4_Missense_Mutation_p.V267A	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	282	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCTCCTTGTCACTGAAGCCCT	0.512													False	0	False	10:13743470	0	G	13743470	A	G	13743470	3	3	88	1	0	0	0	0	1	0	0	0	6093	159	6	4	2318	4	FRMD4A	10	13743470	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44002	13743470	121791277	10411	18123											
FAM107B	83641	broad.mit.edu	37	chr10	14816459	14816459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctggagctccttctgcGcttgggtgtcttggctgtct	12	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14816459G>A	ENST00000181796.2	-	1	437	c.204C>T	c.(202-204)agC>agT	p.S68S		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCCTTCTGCGCTTGGGTGTC	0.582													False	0	False	10:14816459	0	A	14816459	G	A	14816459	2	1	88	1	0	0	0	0	0	0	0	1	5426	1078	38	1		1	FAM107B	10	14816459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1072989	14816459	120718288	10412	18124											
SUV39H2	79723	broad.mit.edu	37	chr10	14939493	14939493	+	Missense_Mutation	SNP	T	T	G													tgaagattaaaagaatgagtTttgtcatggaatatgttgga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14939493T>G	ENST00000313519.5	+	2	877	c.646T>G	c.(646-648)Ttt>Gtt	p.F216V	SUV39H2_ENST00000354919.6_Missense_Mutation_p.F276V|DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000378325.3_Intron	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	276	Pre-SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AAGAATGAGTTTTGTCATGGA	0.373													False	0	True	10:14939493	0	G	14939493	T	G	14939493	3	3	88	1	0	0	0	0	1	0	0	0	15495	1841	64	4	648	4	SUV39H2	10	14939493	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	123034	14939493	120595254	10413	18125	211	2									
SUV39H2	79723	broad.mit.edu	37	chr10	14939500	14939500	+	Missense_Mutation	SNP	T	T	C													taaaagaatgagttttgtcaTggaatatgttggagaggtat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14939500T>C	ENST00000313519.5	+	2	884	c.653T>C	c.(652-654)aTg>aCg	p.M218T	SUV39H2_ENST00000354919.6_Missense_Mutation_p.M278T|DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000378325.3_Intron	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	278	Pre-SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AGTTTTGTCATGGAATATGTT	0.373													False	0	False	10:14939500	0	C	14939500	T	C	14939500	3	2	88	1	0	0	0	0	1	0	0	0	15495	1464	51	4	655	4	SUV39H2	10	14939500	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7	14939500	120595247	10414	18126	211	2									
RPP38	10557	broad.mit.edu	37	chr10	15145661	15145661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcagcttgccattggCgttaacgaagttaccagagc	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15145661C>T	ENST00000378197.4	+	3	862	c.348C>T	c.(346-348)ggC>ggT	p.G116G	RPP38_ENST00000378202.5_Silent_p.G116G|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	116					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						TTGCCATTGGCGTTAACGAAG	0.483													False	0	False	10:15145661	0	T	15145661	C	T	15145661	2	4	88	1	0	0	0	0	0	0	0	1	13692	755	27	1		1	RPP38	10	15145661	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206161	15145661	120389086	10415	18127											
NMT2	9397	broad.mit.edu	37	chr10	15161458	15161458	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaagtgttgattaattctcGaactgatttgatatcttttg	8	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15161458G>A	ENST00000378165.4	-	9	1134	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	NMT2_ENST00000535341.1_Nonsense_Mutation_p.R339*|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R339*|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Nonsense_Mutation_p.R164*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	352					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ATTAATTCTCGAACTGATTTG	0.433													False	0	False	10:15161458	0	A	15161458	G	A	15161458	4	1	88	1	0	0	0	0	0	1	0	0	10572	1066	37	1	458	1	NMT2	10	15161458	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15797	15161458	120373289	10416	18128											
NMT2	9397	broad.mit.edu	37	chr10	15174860	15174860	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggatggcacttatgaacccGaccagttttttatttgaaga	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15174860G>A	ENST00000378165.4	-	6	755	c.675C>T	c.(673-675)gtC>gtT	p.V225V	NMT2_ENST00000535341.1_Silent_p.V212V|NMT2_ENST00000378150.1_Silent_p.V212V|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Silent_p.V37V	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	225					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTATGAACCCGACCAGTTTTT	0.458													False	0	True	10:15174860	0	A	15174860	G	A	15174860	2	1	88	1	0	0	0	0	0	0	0	1	10572	1045	37	1		1	NMT2	10	15174860	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13402	15174860	120359887	10417	18129											
ITGA8	8516	broad.mit.edu	37	chr10	15573078	15573078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttctgggagttttgctgGctgatctgtataaggcatct	11	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15573078G>A	ENST00000378076.3	-	28	3306	c.2953C>T	c.(2953-2955)Cca>Tca	p.P985S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	985					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGTTTTGCTGGCTGATCTGTA	0.313													False	0	True	10:15573078	0	A	15573078	G	A	15573078	3	1	88	1	0	0	0	0	1	0	0	0	7932	1203	42	2	250	2	ITGA8	10	15573078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	398218	15573078	119961669	10418	18130											
ITGA8	8516	broad.mit.edu	37	chr10	15697376	15697376	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcactgttaacatctgatacGacaacggtatatccaaaata	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15697376G>A	ENST00000378076.3	-	11	1331	c.978C>T	c.(976-978)gtC>gtT	p.V326V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	326					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CATCTGATACGACAACGGTAT	0.318													False	0	False	10:15697376	0	A	15697376	G	A	15697376	2	1	88	1	0	0	0	0	0	0	0	1	7932	1045	37	1		1	ITGA8	10	15697376	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124298	15697376	119837371	10419	18131											
ITGA8	8516	broad.mit.edu	37	chr10	15729956	15729956	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacaacttttcctttgtgaGctttcactgttgctccaaac	5	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15729956G>T	ENST00000378076.3	-	3	778	c.425C>A	c.(424-426)gCt>gAt	p.A142D		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	142					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCTTTGTGAGCTTTCACTGT	0.428													False	0	False	10:15729956	0	T	15729956	G	T	15729956	3	4	88	1	0	0	0	0	1	0	0	0	7932	971	34	3	2878	3	ITGA8	10	15729956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32580	15729956	119804791	10420	18132											
C1QL3	389941	broad.mit.edu	37	chr10	16556570	16556570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaacgtgctgtatttgTtgttgtttcctccatgggct	10	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16556570T>C	ENST00000298943.3	-	2	1664	c.725A>G	c.(724-726)aAc>aGc	p.N242S		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	242	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCTGTATTTGTTGTTGTTTCC	0.388													False	0	True	10:16556570	0	C	16556570	T	C	16556570	3	2	88	1	0	0	0	0	1	0	0	0	1975	1725	60	4	46	4	C1QL3	10	16556570	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	826614	16556570	118978177	10421	18133											
C1QL3	389941	broad.mit.edu	37	chr10	16556588	16556588	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgttgtttcctccatggGctttcccgccatctaatttg	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16556588G>T	ENST00000298943.3	-	2	1646	c.707C>A	c.(706-708)gCc>gAc	p.A236D		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	236	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCCTCCATGGGCTTTCCCGCC	0.398													False	0	True	10:16556588	0	T	16556588	G	T	16556588	3	4	88	1	0	0	0	0	1	0	0	0	1975	1203	42	3	64	3	C1QL3	10	16556588	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	16556588	118978159	10422	18134											
C1QL3	389941	broad.mit.edu	37	chr10	16562739	16562739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccccggccgcgttcaggCcgggcgccccgggcgggccc	18	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16562739C>T	ENST00000298943.3	-	1	1265	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	109	Collagen-like.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CGCGTTCAggccgggcgcccc	0.781													False	0	False	10:16562739	0	T	16562739	C	T	16562739	3	4	88	1	0	0	0	0	1	0	0	0	1975	739	26	2	449	2	C1QL3	10	16562739	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6151	16562739	118972008	10423	18135											
CUBN	8029	broad.mit.edu	37	chr10	16877056	16877056	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caactgagttctcgatgccaAgtgaatgaaaaaagagggaa	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16877056A>C	ENST00000377833.4	-	64	10384	c.10319T>G	c.(10318-10320)cTt>cGt	p.L3440R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3440	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCGATGCCAAGTGAATGAAA	0.418													False	0	False	10:16877056	0	C	16877056	A	C	16877056	3	2	88	1	0	0	0	0	1	0	0	0	4076	72	3	4	568	4	CUBN	10	16877056	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	314317	16877056	118657691	10424	18136											
CUBN	8029	broad.mit.edu	37	chr10	16877137	16877137	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcattgtcgtagttaTctggccatccagggcttctc	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16877137T>G	ENST00000377833.4	-	64	10303	c.10238A>C	c.(10237-10239)gAt>gCt	p.D3413A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3413	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCGTAGTTATCTGGCCATCC	0.438													False	0	False	10:16877137	0	G	16877137	T	G	16877137	3	3	88	1	0	0	0	0	1	0	0	0	4076	1435	50	4	649	4	CUBN	10	16877137	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81	16877137	118657610	10425	18137											
CUBN	8029	broad.mit.edu	37	chr10	16878269	16878269	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaaactcattctagagtttCtgtttacaactccagatttg	6	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16878269C>A	ENST00000377833.4	-	63	10210	c.10145G>T	c.(10144-10146)aGa>aTa	p.R3382I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3382	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTAGAGTTTCTGTTTACAAC	0.378													False	0	True	10:16878269	0	A	16878269	C	A	16878269	3	1	88	1	0	0	0	0	1	0	0	0	4076	913	32	3	746	3	CUBN	10	16878269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1132	16878269	118656478	10426	18138											
CUBN	8029	broad.mit.edu	37	chr10	16946075	16946075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atggcaatgtaggctttgaaGgaccacaaagtctccacatc	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16946075G>T	ENST00000377833.4	-	51	8017	c.7952C>A	c.(7951-7953)cCt>cAt	p.P2651H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2651	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCTTTGAAGGACCACAAAG	0.403													False	0	False	10:16946075	0	T	16946075	G	T	16946075	3	4	88	1	0	0	0	0	1	0	0	0	4076	1000	35	3	2987	3	CUBN	10	16946075	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67806	16946075	118588672	10427	18139											
CUBN	8029	broad.mit.edu	37	chr10	16949516	16949516	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctacattacctgcatcttCactggaggtataggaagcag	9	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16949516C>T	ENST00000377833.4	-	49	7761	c.7696G>A	c.(7696-7698)Gaa>Aaa	p.E2566K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2566					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGCATCTTCACTGGAGGTA	0.458													False	0	False	10:16949516	0	T	16949516	C	T	16949516	3	4	88	1	0	0	0	0	1	0	0	0	4076	835	29	2	3251	2	CUBN	10	16949516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3441	16949516	118585231	10428	18140											
CUBN	8029	broad.mit.edu	37	chr10	17113893	17113893	+	Silent	SNP	A	A	G													attttaaacctgatccagacActattagtaatggatttaat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17113893A>G	ENST00000377833.4	-	18	2444	c.2379T>C	c.(2377-2379)agT>agC	p.S793S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	793	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGATCCAGACACTATTAGTAA	0.333													False	0	False	10:17113893	0	G	17113893	A	G	17113893	2	3	88	1	0	0	0	0	0	0	0	1	4076	156	6	4		4	CUBN	10	17113893	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	164377	17113893	118420854	10429	18141	212	2									
CUBN	8029	broad.mit.edu	37	chr10	17113900	17113900	+	Missense_Mutation	SNP	G	G	A													acctgatccagacactattaGtaatggatttaatgtgagag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17113900G>A	ENST00000377833.4	-	18	2437	c.2372C>T	c.(2371-2373)aCt>aTt	p.T791I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	791	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACACTATTAGTAATGGATTT	0.333													False	0	False	10:17113900	0	A	17113900	G	A	17113900	3	1	88	1	0	0	0	0	1	0	0	0	4076	1029	36	2	8699	2	CUBN	10	17113900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	17113900	118420847	10430	18142	212	2									
CUBN	8029	broad.mit.edu	37	chr10	17171244	17171244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctctctctgtagccattCgaggcctatataattcaaac	5	12	3	0	rs149358798	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17171244C>T	ENST00000377833.4	-	2	193	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	CUBN_ENST00000377823.1_Missense_Mutation_p.R43Q	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	43					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTAGCCATTCGAGGCCTATA	0.348													False	0	False	10:17171244	0	T	17171244	C	T	17171244	3	4	88	1	0	0	0	0	1	0	0	0	4076	884	31	1	11007	1	CUBN	10	17171244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57344	17171244	118363503	10431	18143											
TRDMT1	1787	broad.mit.edu	37	chr10	17210891	17210891	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatcatatcaaaagataatCtgtcaaactcttcgagtgta	5	7	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17210891C>A	ENST00000377799.3	-	3	247	c.200G>T	c.(199-201)aGa>aTa	p.R67I	TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000412821.3_Missense_Mutation_p.R67I|TRDMT1_ENST00000351358.4_Missense_Mutation_p.R67I|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000452380.2_5'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	67					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						AAAAGATAATCTGTCAAACTC	0.378													False	0	False	10:17210891	0	A	17210891	C	A	17210891	3	1	88	1	0	0	0	0	1	0	0	0	16550	913	32	3	1011	3	TRDMT1	10	17210891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39647	17210891	118323856	10432	18144											
VIM	7431	broad.mit.edu	37	chr10	17276772	17276772	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtccactgagtaccggagAcaggtgcagtccctcacctg	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17276772A>G	ENST00000544301.1	+	6	1376	c.963A>G	c.(961-963)agA>agG	p.R321R	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000224237.5_Silent_p.R321R	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	321	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTACCGGAGACAGGTGCAGT	0.522													False	0	False	10:17276772	0	G	17276772	A	G	17276772	2	3	88	1	0	0	0	0	0	0	0	1	17250	272	10	4		4	VIM	10	17276772	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65881	17276772	118257975	10433	18145											
VIM	7431	broad.mit.edu	37	chr10	17277377	17277377	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacaggaagctgctggaaggCgaggagagcaggtagggaac	18	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17277377C>A	ENST00000544301.1	+	7	1631	c.1218C>A	c.(1216-1218)ggC>ggA	p.G406G	VIM_ENST00000224237.5_Silent_p.G406G	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	406	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCTGGAAGGCGAGGAGAGCA	0.502													False	0	False	10:17277377	0	A	17277377	C	A	17277377	2	1	88	1	0	0	0	0	0	0	0	1	17250	755	27	3		3	VIM	10	17277377	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605	17277377	118257370	10434	18146											
PTPLA	9200	broad.mit.edu	37	chr10	17636234	17636234	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgatgccatggttataagaaGaaaataatagtagtcaaaag	9	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17636234G>T	ENST00000361271.3	-	6	791	c.754C>A	c.(754-756)Ctt>Att	p.L252I		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	252					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GTTATAAGAAGAAAATAATAG	0.289													False	0	True	10:17636234	0	T	17636234	G	T	17636234	3	4	88	1	0	0	0	0	1	0	0	0	12851	942	33	3	120	3	PTPLA	10	17636234	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	358857	17636234	117898513	10435	18147											
STAM	8027	broad.mit.edu	37	chr10	17730057	17730057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatgtgaaaaattaaaggCtcttatggttgaatggacag	11	3	1	2	rs142836471		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17730057C>T	ENST00000377524.3	+	5	544	c.329C>T	c.(328-330)gCt>gTt	p.A110V	STAM_ENST00000540523.1_5'UTR	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	110	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AAATTAAAGGCTCTTATGGTT	0.323													False	0	False	10:17730057	0	T	17730057	C	T	17730057	3	4	88	1	0	0	0	0	1	0	0	0	15330	797	28	2	347	2	STAM	10	17730057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93823	17730057	117804690	10436	18148											
STAM	8027	broad.mit.edu	37	chr10	17747711	17747711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacagaatcagccatattatAtgcagtcatctggtgtttct	7	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17747711A>G	ENST00000377524.3	+	12	1395	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V	STAM_ENST00000540523.1_Missense_Mutation_p.M283V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	394					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GCCATATTATATGCAGTCATC	0.393													False	0	False	10:17747711	0	G	17747711	A	G	17747711	3	3	88	1	0	0	0	0	1	0	0	0	15330	449	16	4	1226	4	STAM	10	17747711	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17654	17747711	117787036	10437	18149											
STAM	8027	broad.mit.edu	37	chr10	17750861	17750861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagctacagtcttcccccGgagcagctgtcttctctcag	9	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17750861G>A	ENST00000377524.3	+	13	1511	c.1296G>A	c.(1294-1296)ccG>ccA	p.P432P	STAM_ENST00000540523.1_Silent_p.P321P	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	432					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTCTTCCCCCGGAGCAGCTGT	0.572													False	0	True	10:17750861	0	A	17750861	G	A	17750861	2	1	88	1	0	0	0	0	0	0	0	1	15330	1103	39	1		1	STAM	10	17750861	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3150	17750861	117783886	10438	18150											
SLC39A12	221074	broad.mit.edu	37	chr10	18250690	18250690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattttacctacacagcctaCtgagcctcaggcaggatgaa	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18250690C>T	ENST00000377369.2	+	3	715	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	SLC39A12_ENST00000377374.4_Silent_p.L148L|SLC39A12_ENST00000539911.1_Silent_p.L14L|SLC39A12_ENST00000377371.3_Silent_p.L148L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	148					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACACAGCCTACTGAGCCTCAG	0.393													False	0	False	10:18250690	0	T	18250690	C	T	18250690	2	4	88	1	0	0	0	0	0	0	0	1	14695	564	20	2		2	SLC39A12	10	18250690	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	499829	18250690	117284057	10439	18151											
SLC39A12	221074	broad.mit.edu	37	chr10	18284597	18284597	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taaaatagaaaagcccagaaGattcacaggcagctgaaatg	9	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18284597G>A	ENST00000377369.2	+	10	1819	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	SLC39A12_ENST00000377374.4_Missense_Mutation_p.D479N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.D382N|SLC39A12_ENST00000377371.3_Missense_Mutation_p.D515N	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	516					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAGCCCAGAAGATTCACAGGC	0.353													False	0	False	10:18284597	0	A	18284597	G	A	18284597	3	1	88	1	0	0	0	0	1	0	0	0	14695	942	33	2	1580	2	SLC39A12	10	18284597	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33907	18284597	117250150	10440	18152											
CACNB2	783	broad.mit.edu	37	chr10	18807857	18807857	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtcacagatatgatgcaaAaagcgctgtttgatttttta	9	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18807857A>C	ENST00000396576.2	+	8	1240	c.739A>C	c.(739-741)Aaa>Caa	p.K247Q	CACNB2_ENST00000282343.8_Missense_Mutation_p.K274Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.K254Q|CACNB2_ENST00000324631.7_Missense_Mutation_p.K302Q|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Missense_Mutation_p.K248Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.K250Q|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000352115.6_Missense_Mutation_p.K278Q|CACNB2_ENST00000377319.3_Missense_Mutation_p.K209Q	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	302					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TATGATGCAAAAAGCGCTGTT	0.338													False	0	True	10:18807857	0	C	18807857	A	C	18807857	3	2	88	1	0	0	0	0	1	0	0	0	2573	15	1	4	1248	4	CACNB2	10	18807857	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	523260	18807857	116726890	10441	18153											
CACNB2	783	broad.mit.edu	37	chr10	18823122	18823122	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtaaaacctccttggcccCtattatagtatatgtaaaga	6	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18823122C>A	ENST00000396576.2	+	10	1508	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H	CACNB2_ENST00000282343.8_Missense_Mutation_p.P363H|CACNB2_ENST00000377315.4_Missense_Mutation_p.P343H|CACNB2_ENST00000324631.7_Missense_Mutation_p.P391H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Missense_Mutation_p.P337H|CACNB2_ENST00000377331.2_Missense_Mutation_p.P339H|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000352115.6_Missense_Mutation_p.P367H|CACNB2_ENST00000377319.3_Missense_Mutation_p.P298H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	391					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCTTGGCCCCTATTATAGTA	0.368													False	0	True	10:18823122	0	A	18823122	C	A	18823122	3	1	88	1	0	0	0	0	1	0	0	0	2573	681	24	3	1524	3	CACNB2	10	18823122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15265	18823122	116711625	10442	18154											
CACNB2	783	broad.mit.edu	37	chr10	18828262	18828262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcaagaaatcccagcaccGctcttcctcctcagccccac	5	19	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18828262G>A	ENST00000396576.2	+	13	1928	c.1427G>A	c.(1426-1428)cGc>cAc	p.R476H	CACNB2_ENST00000282343.8_Missense_Mutation_p.R503H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R483H|CACNB2_ENST00000324631.7_Missense_Mutation_p.R531H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Missense_Mutation_p.R477H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R479H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R281H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R507H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R438H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	531					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R507H(1)|p.R476H(1)|p.R477H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCCAGCACCGCTCTTCCTCC	0.557													False	0	False	10:18828262	0	A	18828262	G	A	18828262	3	1	88	1	0	0	0	0	1	0	0	0	2573	1087	38	1	1956	1	CACNB2	10	18828262	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5140	18828262	116706485	10443	18155											
CACNB2	783	broad.mit.edu	37	chr10	18828568	18828568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcataaatccaaggatcGctactgtgaaaaggatggag	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18828568G>A	ENST00000396576.2	+	13	2234	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	CACNB2_ENST00000282343.8_Missense_Mutation_p.R605H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R585H|CACNB2_ENST00000324631.7_Missense_Mutation_p.R633H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Missense_Mutation_p.R579H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R581H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R383H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R609H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R540H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	633					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCAAGGATCGCTACTGTGAA	0.527													False	0	False	10:18828568	0	A	18828568	G	A	18828568	3	1	88	1	0	0	0	0	1	0	0	0	2573	1087	38	1	2262	1	CACNB2	10	18828568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	306	18828568	116706179	10444	18156											
PLXDC2	84898	broad.mit.edu	37	chr10	20290821	20290821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctcaaggcggtagacaCgaaccgagcaagcgtcggcc	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20290821C>T	ENST00000377252.4	+	2	1071	c.230C>T	c.(229-231)aCg>aTg	p.T77M	PLXDC2_ENST00000377242.3_Missense_Mutation_p.T77M	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GCGGTAGACACGAACCGAGCA	0.537													False	0	False	10:20290821	0	T	20290821	C	T	20290821	3	4	88	1	0	0	0	0	1	0	0	0	12187	536	19	1	236	1	PLXDC2	10	20290821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1462253	20290821	115243926	10445	18157											
PLXDC2	84898	broad.mit.edu	37	chr10	20432253	20432253	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acactggagaagtcgtacatCgaatgctaacagccacacag	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20432253C>T	ENST00000377252.4	+	5	1412	c.571C>T	c.(571-573)Cga>Tga	p.R191*	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.R142*	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGTCGTACATCGAATGCTAAC	0.333													False	0	False	10:20432253	0	T	20432253	C	T	20432253	4	4	88	1	0	0	0	0	0	1	0	0	12187	876	31	1	589	1	PLXDC2	10	20432253	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141432	20432253	115102494	10446	18158											
NEBL	10529	broad.mit.edu	37	chr10	21178809	21178809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accgatattttttacatggtTtagcataggactgtcagtca	8	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21178809T>G	ENST00000377122.4	-	3	619	c.223A>C	c.(223-225)Aac>Cac	p.N75H	NEBL_ENST00000377119.1_Missense_Mutation_p.N75H|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	75				N -> T (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTACATGGTTTAGCATAGGA	0.313													False	0	True	10:21178809	0	G	21178809	T	G	21178809	3	3	88	1	0	0	0	0	1	0	0	0	10371	1841	64	4	2925	4	NEBL	10	21178809	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	746556	21178809	114355938	10447	18159											
NEBL	10529	broad.mit.edu	37	chr10	21309118	21309118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaccgtggtgaaggactgCttcgggtagtgtctgtgggg	18	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21309118C>T	ENST00000417816.2	-	3	530	c.177G>A	c.(175-177)aaG>aaA	p.K59K	NEBL_ENST00000377159.4_Silent_p.K25K	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	721				RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGAAGGACTGCTTCGGGTAGT	0.413													False	0	False	10:21309118	0	T	21309118	C	T	21309118	2	4	88	1	0	0	0	0	0	0	0	1	10371	796	28	2		2	NEBL	10	21309118	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130309	21309118	114225629	10448	18160											
MLLT10	8028	broad.mit.edu	37	chr10	21962743	21962743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaacatcatctgtagcaTcagctgcaggaagcataaca	7	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21962743T>C	ENST00000377072.3	+	11	1864	c.1516T>C	c.(1516-1518)Tca>Cca	p.S506P	MLLT10_ENST00000307729.7_Missense_Mutation_p.S506P|MLLT10_ENST00000377059.3_Missense_Mutation_p.S506P|MLLT10_ENST00000446906.2_Missense_Mutation_p.S506P	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	506	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATCTGTAGCATCAGCTGCAGG	0.448			T	"MLL, PICALM, CDK6"	AL								False	0	False	10:21962743	0	C	21962743	T	C	21962743	3	2	88	1	0	0	0	0	1	0	0	0	9693	1435	50	4	1554	4	MLLT10	10	21962743	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	653625	21962743	113572004	10449	18161											
MLLT10	8028	broad.mit.edu	37	chr10	22019972	22019972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttactagaacagggtaCtcctagtgacagtaagtatt	8	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22019972C>T	ENST00000377072.3	+	18	2603	c.2255C>T	c.(2254-2256)aCt>aTt	p.T752I	MLLT10_ENST00000307729.7_Missense_Mutation_p.T736I|MLLT10_ENST00000377059.3_Missense_Mutation_p.T736I|MLLT10_ENST00000446906.2_Missense_Mutation_p.T736I	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	752	Transactivation domain.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAACAGGGTACTCCTAGTGAC	0.433			T	"MLL, PICALM, CDK6"	AL								False	0	False	10:22019972	0	T	22019972	C	T	22019972	3	4	88	1	0	0	0	0	1	0	0	0	9693	565	20	2	2321	2	MLLT10	10	22019972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57229	22019972	113514775	10450	18162											
MLLT10	8028	broad.mit.edu	37	chr10	22022979	22022979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagactcctgtcacaatgTcccagaaccctacccctctc	5	18	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22022979T>C	ENST00000377072.3	+	21	3175	c.2827T>C	c.(2827-2829)Tcc>Ccc	p.S943P	MLLT10_ENST00000307729.7_Missense_Mutation_p.S927P|MLLT10_ENST00000377059.3_Missense_Mutation_p.S927P|MLLT10_ENST00000446906.2_Missense_Mutation_p.S927P	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	943					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTCACAATGTCCCAGAACCC	0.458			T	"MLL, PICALM, CDK6"	AL								False	0	True	10:22022979	0	C	22022979	T	C	22022979	3	2	88	1	0	0	0	0	1	0	0	0	9693	1667	58	4	2905	4	MLLT10	10	22022979	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3007	22022979	113511768	10451	18163											
DNAJC1	64215	broad.mit.edu	37	chr10	22048251	22048251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttttctcaggctctcctCgtcgctggactcgttttgtt	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22048251C>T	ENST00000376980.3	-	11	1734	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	482					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGGCTCTCCTCGTCGCTGGAC	0.562													False	0	False	10:22048251	0	T	22048251	C	T	22048251	3	4	88	1	0	0	0	0	1	0	0	0	4658	893	31	1	228	1	DNAJC1	10	22048251	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25272	22048251	113486496	10452	18164											
DNAJC1	64215	broad.mit.edu	37	chr10	22048286	22048286	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgttctgctatgtcaaagTccttctgccgcttggctctg	9	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22048286T>C	ENST00000376980.3	-	11	1699	c.1409A>G	c.(1408-1410)gAc>gGc	p.D470G		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	470					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TATGTCAAAGTCCTTCTGCCG	0.587													False	0	False	10:22048286	0	C	22048286	T	C	22048286	3	2	88	1	0	0	0	0	1	0	0	0	4658	1667	58	4	263	4	DNAJC1	10	22048286	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35	22048286	113486461	10453	18165											
BMI1	648	broad.mit.edu	37	chr10	22618434	22618434	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgccaatagacctcgaaaatCatcagtaaatgggtcatcag	8	9	4	1	rs140326477		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22618434C>A	ENST00000376663.3	+	10	1449	c.944C>A	c.(943-945)tCa>tAa	p.S315*	COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.S458*	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene									p.S315L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						CCTCGAAAATCATCAGTAAAT	0.403													False	0	False	10:22618434	0	A	22618434	C	A	22618434	4	1	88	1	0	0	0	0	0	1	0	0	1460	838	29	3	978	3	BMI1	10	22618434	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	570148	22618434	112916313	10454	18166											
SPAG6	9576	broad.mit.edu	37	chr10	22678185	22678185	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcctggcatcatgatgCttggttatgtagcagctcat	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22678185C>A	ENST00000376603.2	+	7	1319	c.1177C>A	c.(1177-1179)Ctt>Att	p.L393I	SPAG6_ENST00000313311.6_Missense_Mutation_p.L317I|SPAG6_ENST00000538630.1_Missense_Mutation_p.L292I|SPAG6_ENST00000376624.3_Missense_Mutation_p.L317I|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Intron			O75602	SPAG6_HUMAN	sperm associated antigen 6	317					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CATCATGATGCTTGGTTATGT	0.468													False	0	False	10:22678185	0	A	22678185	C	A	22678185	3	1	88	1	0	0	0	0	1	0	0	0	15064	797	28	3	975	3	SPAG6	10	22678185	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59751	22678185	112856562	10455	18167											
SPAG6	9576	broad.mit.edu	37	chr10	22699988	22699988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatgatagcaaagctcgacGactttttgtaacaagtggtg	11	7	0	1	rs143302036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22699988G>A	ENST00000376603.2	+	10	1713	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000538630.1_Missense_Mutation_p.R423Q|SPAG6_ENST00000376624.3_Missense_Mutation_p.R448Q|SPAG6_ENST00000490361.1_3'UTR|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Missense_Mutation_p.R209Q			O75602	SPAG6_HUMAN	sperm associated antigen 6	448					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AAAGCTCGACGACTTTTTGTA	0.368													False	0	False	10:22699988	0	A	22699988	G	A	22699988	3	1	88	1	0	0	0	0	1	0	0	0	15064	1058	37	1	1381	1	SPAG6	10	22699988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21803	22699988	112834759	10456	18168											
PIP4K2A	5305	broad.mit.edu	37	chr10	23003205	23003205	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acgaagtgcttcttcttggtCttggtcttgctcgccaggac	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23003205C>A	ENST00000376573.4	-	1	279	c.51G>T	c.(49-51)aaG>aaT	p.K17N		NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	17							1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	p.K17N(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TCTTCTTGGTCTTGGTCTTGC	0.647													False	0	True	10:23003205	0	A	23003205	C	A	23003205	3	1	88	1	0	0	0	0	1	0	0	0	12005	912	32	3	1209	3	PIP4K2A	10	23003205	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	303217	23003205	112531542	10457	18169											
ARMC3	219681	broad.mit.edu	37	chr10	23287078	23287078	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctttcatttactcagcGctgctgctgaagctgatggt	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287078G>A	ENST00000298032.5	+	11	1261	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	ARMC3_ENST00000376528.4_Splice_Site_p.A130T|ARMC3_ENST00000409049.3_Splice_Site_p.A393T|ARMC3_ENST00000409983.3_Splice_Site_p.A393T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	393							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTACTCAGCGCTGCTGCTGA	0.378													False	0	True	10:23287078	0	A	23287078	G	A	23287078	5	1	88	1	0	0	0	0	0	0	1	0	956	1101	38	1	1215	1	ARMC3	10	23287078	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	283873	23287078	112247669	10458	18170											
ARMC3	219681	broad.mit.edu	37	chr10	23287157	23287157	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggagccattgccaacgctgCtacagtattaacaaacatgg	9	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287157C>G	ENST00000298032.5	+	11	1340	c.1256C>G	c.(1255-1257)gCt>gGt	p.A419G	ARMC3_ENST00000376528.4_Missense_Mutation_p.A156G|ARMC3_ENST00000409049.3_Missense_Mutation_p.A419G|ARMC3_ENST00000409983.3_Missense_Mutation_p.A419G	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	419							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCCAACGCTGCTACAGTATTA	0.473													False	0	False	10:23287157	0	G	23287157	C	G	23287157	3	3	88	1	0	0	0	0	1	0	0	0	956	797	28	5	1294	5	ARMC3	10	23287157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	23287157	112247590	10459	18171											
ARMC3	219681	broad.mit.edu	37	chr10	23287286	23287286	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagagcaaagctgctctcgCtgtcaccgcaactgcgtgtg	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287286C>A	ENST00000298032.5	+	11	1469	c.1385C>A	c.(1384-1386)gCt>gAt	p.A462D	ARMC3_ENST00000376528.4_Missense_Mutation_p.A199D|ARMC3_ENST00000409049.3_Missense_Mutation_p.A462D|ARMC3_ENST00000409983.3_Missense_Mutation_p.A462D	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	462							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTGCTCTCGCTGTCACCGCA	0.502													False	0	False	10:23287286	0	A	23287286	C	A	23287286	3	1	88	1	0	0	0	0	1	0	0	0	956	797	28	3	1423	3	ARMC3	10	23287286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	23287286	112247461	10460	18172											
ARMC3	219681	broad.mit.edu	37	chr10	23321797	23321797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaattgacacaggtatgtaGcagaaaaaatgggtggtaag	13	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23321797G>A	ENST00000298032.5	+	18	2338	c.2254G>A	c.(2254-2256)Gca>Aca	p.A752T	ARMC3_ENST00000376528.4_Missense_Mutation_p.A489T|ARMC3_ENST00000409983.3_Missense_Mutation_p.A745T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	752							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAGGTATGTAGCAGAAAAAAT	0.318													False	0	False	10:23321797	0	A	23321797	G	A	23321797	3	1	88	1	0	0	0	0	1	0	0	0	956	971	34	2	2320	2	ARMC3	10	23321797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34511	23321797	112212950	10461	18173											
ARMC3	219681	broad.mit.edu	37	chr10	23326238	23326238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcattggttgctccctagttCgcggagagtacggtagagcg	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23326238C>T	ENST00000298032.5	+	19	2533	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	ARMC3_ENST00000376528.4_Missense_Mutation_p.R554C|ARMC3_ENST00000409983.3_Missense_Mutation_p.R810C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	817							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCCCTAGTTCGCGGAGAGTA	0.542													False	0	False	10:23326238	0	T	23326238	C	T	23326238	3	4	88	1	0	0	0	0	1	0	0	0	956	884	31	1	2519	1	ARMC3	10	23326238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4441	23326238	112208509	10462	18174											
MSRB2	22921	broad.mit.edu	37	chr10	23409785	23409785	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagttcaaaccaaggaaAcactgaccatcttcaagagt	7	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23409785A>C	ENST00000376510.3	+	5	646	c.543A>C	c.(541-543)aaA>aaC	p.K181N	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	181					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	AACCAAGGAAACACTGACCAT	0.458													False	0	True	10:23409785	0	C	23409785	A	C	23409785	3	2	88	1	0	0	0	0	1	0	0	0	9955	40	2	4	561	4	MSRB2	10	23409785	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83547	23409785	112124962	10463	18175											
PTF1A	256297	broad.mit.edu	37	chr10	23481479	23481479	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catggacgcggtgttgctggAgcacttccccgggggcctag	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23481479A>T	ENST00000376504.3	+	1	224	c.20A>T	c.(19-21)gAg>gTg	p.E7V		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	7					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GTGTTGCTGGAGCACTTCCCC	0.647													False	0	False	10:23481479	0	T	23481479	A	T	23481479	3	4	88	1	0	0	0	0	1	0	0	0	12816	304	11	5	22	5	PTF1A	10	23481479	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71694	23481479	112053268	10464	18176											
KIAA1217	56243	broad.mit.edu	37	chr10	24508579	24508579	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaaggcaatctgcatgTaacatcaccagaagatgcag	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24508579T>C	ENST00000376454.3	+	2	125	c.95T>C	c.(94-96)gTa>gCa	p.V32A	KIAA1217_ENST00000458595.1_Missense_Mutation_p.V32A|KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V32A	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	32					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATCTGCATGTAACATCACCA	0.428													False	0	False	10:24508579	0	C	24508579	T	C	24508579	3	2	88	1	0	0	0	0	1	0	0	0	8266	1638	57	4	101	4	KIAA1217	10	24508579	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1027100	24508579	111026168	10465	18177											
KIAA1217	56243	broad.mit.edu	37	chr10	24783453	24783453	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcaagccatggagaaAcagattgccagtttaactgg	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24783453A>G	ENST00000376454.3	+	7	1734	c.1704A>G	c.(1702-1704)aaA>aaG	p.K568K	KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Silent_p.K488K|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376452.3_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	568					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCATGGAGAAACAGATTGCCA	0.413													False	0	True	10:24783453	0	G	24783453	A	G	24783453	2	3	88	1	0	0	0	0	0	0	0	1	8266	40	2	4		4	KIAA1217	10	24783453	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	274874	24783453	110751294	10466	18178											
KIAA1217	56243	broad.mit.edu	37	chr10	24813290	24813290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaaaggcacggacgcagCccaagccgcacagtacatgg	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24813290C>T	ENST00000376451.2	+	8	1804	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	KIAA1217_ENST00000458595.1_Missense_Mutation_p.A797V|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A515V|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A832V|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A515V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A752V|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A515V|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A797V			Q5T5P2	SKT_HUMAN	KIAA1217	832					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACGGACGCAGCCCAAGCCGCA	0.567													False	0	True	10:24813290	0	T	24813290	C	T	24813290	3	4	88	1	0	0	0	0	1	0	0	0	8266	739	26	2	2545	2	KIAA1217	10	24813290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29837	24813290	110721457	10467	18179											
KIAA1217	56243	broad.mit.edu	37	chr10	24820880	24820880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccaccacgaggtcaggCgatgtggtctacaccggcag	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24820880C>T	ENST00000376451.2	+	10	2513	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	KIAA1217_ENST00000458595.1_Silent_p.G1033G|KIAA1217_ENST00000307544.6_Silent_p.G751G|KIAA1217_ENST00000376454.3_Silent_p.G1068G|KIAA1217_ENST00000396446.1_Silent_p.G751G|KIAA1217_ENST00000376462.1_Silent_p.G988G|KIAA1217_ENST00000396445.1_Silent_p.G751G|KIAA1217_ENST00000376452.3_Silent_p.G1032G			Q5T5P2	SKT_HUMAN	KIAA1217	1068					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGAGGTCAGGCGATGTGGTCT	0.577													False	0	False	10:24820880	0	T	24820880	C	T	24820880	2	4	88	1	0	0	0	0	0	0	0	1	8266	755	27	1		1	KIAA1217	10	24820880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7590	24820880	110713867	10468	18180											
KIAA1217	56243	broad.mit.edu	37	chr10	24832433	24832433	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaaagggagaagacataCagacggttaatatcgatgcc	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24832433C>T	ENST00000376451.2	+	14	3543	c.3283C>T	c.(3283-3285)Cag>Tag	p.Q1095*	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.Q1412*|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1412					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGAAGACATACAGACGGTTAA	0.473													False	0	False	10:24832433	0	T	24832433	C	T	24832433	4	4	88	1	0	0	0	0	0	1	0	0	8266	479	17	2	4308	2	KIAA1217	10	24832433	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11553	24832433	110702314	10469	18181											
ARHGAP21	57584	broad.mit.edu	37	chr10	24880606	24880606	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accttcttctgtgaaaaaccAgtcatgctaaaatttaaaaa	4	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24880606A>C	ENST00000396432.2	-	23	4495	c.4009T>G	c.(4009-4011)Tgg>Ggg	p.W1337G	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.W1124G	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1336	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGAAAAACCAGTCATGCTAA	0.373													False	0	False	10:24880606	0	C	24880606	A	C	24880606	3	2	88	1	0	0	0	0	1	0	0	0	873	188	7	4	1883	4	ARHGAP21	10	24880606	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48173	24880606	110654141	10470	18182											
ARHGAP21	57584	broad.mit.edu	37	chr10	24880896	24880896	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgttgtcttctgatgttcGaacaagggtgggaccaaaca	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24880896G>A	ENST00000396432.2	-	22	4408	c.3922C>T	c.(3922-3924)Cga>Tga	p.R1308*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R1095*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1307	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCTGATGTTCGAACAAGGGTG	0.438													False	0	False	10:24880896	0	A	24880896	G	A	24880896	4	1	88	1	0	0	0	0	0	1	0	0	873	1066	37	1	1974	1	ARHGAP21	10	24880896	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	290	24880896	110653851	10471	18183											
ARHGAP21	57584	broad.mit.edu	37	chr10	24889643	24889643	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatcatctctgtcttcagCctgaaacaggcattcacagt	6	12	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24889643C>T	ENST00000396432.2	-	14	3550	c.3064G>A	c.(3064-3066)Gct>Act	p.A1022T	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.A809T|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1021	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGTCTTCAGCCTGAAACAGG	0.458													False	0	False	10:24889643	0	T	24889643	C	T	24889643	3	4	88	1	0	0	0	0	1	0	0	0	873	739	26	2	2864	2	ARHGAP21	10	24889643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8747	24889643	110645104	10472	18184											
ARHGAP21	57584	broad.mit.edu	37	chr10	24909750	24909750	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttgagatctgctgcttgaGattccatcagaatgtccact	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24909750G>A	ENST00000396432.2	-	9	1560	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	ARHGAP21_ENST00000320481.6_Silent_p.I145I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	357					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTGCTTGAGATTCCATCAG	0.428													False	0	False	10:24909750	0	A	24909750	G	A	24909750	2	1	88	1	0	0	0	0	0	0	0	1	873	932	33	2		2	ARHGAP21	10	24909750	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20107	24909750	110624997	10473	18185											
ARHGAP21	57584	broad.mit.edu	37	chr10	24909977	24909977	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctattggataacaaatCtacaaccttctcagaaggca	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24909977C>A	ENST00000396432.2	-	9	1333	c.847G>T	c.(847-849)Gat>Tat	p.D283Y	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.D70Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	282					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GATAACAAATCTACAACCTTC	0.418													False	0	False	10:24909977	0	A	24909977	C	A	24909977	3	1	88	1	0	0	0	0	1	0	0	0	873	913	32	3	5101	3	ARHGAP21	10	24909977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	24909977	110624770	10474	18186											
ARHGAP21	57584	broad.mit.edu	37	chr10	24910055	24910055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtgtttgattttgcaaCatctgttggtgatggaggca	13	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24910055C>T	ENST00000396432.2	-	9	1255	c.769G>A	c.(769-771)Gtt>Att	p.V257I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.V44I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	256					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GATTTTGCAACATCTGTTGGT	0.413													False	0	False	10:24910055	0	T	24910055	C	T	24910055	3	4	88	1	0	0	0	0	1	0	0	0	873	478	17	2	5179	2	ARHGAP21	10	24910055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78	24910055	110624692	10475	18187											
ENKUR	219670	broad.mit.edu	37	chr10	25273753	25273753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccagcctctgcttgcGgatcttctttggtatagaat	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25273753G>A	ENST00000331161.4	-	5	895	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	ENKUR_ENST00000376363.1_Missense_Mutation_p.R226C	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	226						cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTCTGCTTGCGGATCTTCTTT	0.388													False	0	False	10:25273753	0	A	25273753	G	A	25273753	3	1	88	1	0	0	0	0	1	0	0	0	5152	1116	39	1	102	1	ENKUR	10	25273753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	363698	25273753	110260994	10476	18188											
GPR158	57512	broad.mit.edu	37	chr10	25886972	25886972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaaatccaaggaggagaCcctgaaaaaccgagtcttct	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25886972C>T	ENST00000376351.3	+	11	2776	c.2417C>T	c.(2416-2418)aCc>aTc	p.T806I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	806						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGGAGGAGACCCTGAAAAAC	0.542													False	0	True	10:25886972	0	T	25886972	C	T	25886972	3	4	88	1	0	0	0	0	1	0	0	0	6709	507	18	2	2459	2	GPR158	10	25886972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	613219	25886972	109647775	10477	18189											
GPR158	57512	broad.mit.edu	37	chr10	25887906	25887906	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgtgtgctgggcagagCgaagaactgccccccaaagc	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25887906C>T	ENST00000376351.3	+	11	3710	c.3351C>T	c.(3349-3351)agC>agT	p.S1117S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1117						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTGGGCAGAGCGAAGAACTGC	0.473													False	0	False	10:25887906	0	T	25887906	C	T	25887906	2	4	88	1	0	0	0	0	0	0	0	1	6709	767	27	1		1	GPR158	10	25887906	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	934	25887906	109646841	10478	18190											
MYO3A	53904	broad.mit.edu	37	chr10	26305807	26305807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacatccgtaggaacaccGttttggatggctcctgaggt	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26305807G>A	ENST00000265944.5	+	7	733	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MYO3A_ENST00000376301.1_Silent_p.P189P|MYO3A_ENST00000543632.1_Silent_p.P189P|MYO3A_ENST00000376302.1_Silent_p.P189P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	189	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGGAACACCGTTTTGGATGG	0.448													False	0	True	10:26305807	0	A	26305807	G	A	26305807	2	1	88	1	0	0	0	0	0	0	0	1	10143	1132	40	1		1	MYO3A	10	26305807	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	417901	26305807	109228940	10479	18191											
MYO3A	53904	broad.mit.edu	37	chr10	26432413	26432413	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aagatgtggatgctagagttAttgaatatgaggataactgg	13	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26432413A>T	ENST00000265944.5	+	21	2465	c.2299A>T	c.(2299-2301)Att>Ttt	p.I767F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	767	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGCTAGAGTTATTGAATATGA	0.338													False	0	False	10:26432413	0	T	26432413	A	T	26432413	3	4	88	1	0	0	0	0	1	0	0	0	10143	449	16	5	2373	5	MYO3A	10	26432413	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	126606	26432413	109102334	10480	18192											
MYO3A	53904	broad.mit.edu	37	chr10	26443677	26443677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccttggtctccttagggCgacactggagaagccacacg	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26443677C>T	ENST00000265944.5	+	25	2884	c.2718C>T	c.(2716-2718)ggC>ggT	p.G906G	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	906	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTCCTTAGGGCGACACTGGAG	0.393													False	0	True	10:26443677	0	T	26443677	C	T	26443677	2	4	88	1	0	0	0	0	0	0	0	1	10143	755	27	1		1	MYO3A	10	26443677	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11264	26443677	109091070	10481	18193											
MYO3A	53904	broad.mit.edu	37	chr10	26462912	26462912	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctatgatccagagttActatcagaggtacacagagg	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26462912A>G	ENST00000265944.5	+	30	3885	c.3719A>G	c.(3718-3720)tAc>tGc	p.Y1240C	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1240					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCCAGAGTTACTATCAGAGG	0.463													False	0	False	10:26462912	0	G	26462912	A	G	26462912	3	3	88	1	0	0	0	0	1	0	0	0	10143	391	14	4	3829	4	MYO3A	10	26462912	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19235	26462912	109071835	10482	18194											
MYO3A	53904	broad.mit.edu	37	chr10	26490219	26490219	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatccaagaagaaaaacgaaGaccaaggaaagacaggtaat	9	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26490219G>A	ENST00000265944.5	+	33	4737	c.4571G>A	c.(4570-4572)aGa>aAa	p.R1524K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1524					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAAAACGAAGACCAAGGAAA	0.249													False	0	False	10:26490219	0	A	26490219	G	A	26490219	3	1	88	1	0	0	0	0	1	0	0	0	10143	942	33	2	4693	2	MYO3A	10	26490219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27307	26490219	109044528	10483	18195											
GAD2	2572	broad.mit.edu	37	chr10	26559594	26559594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcctttcctcgtgagtgCcacagctggaaccaccgtgt	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26559594C>T	ENST00000376261.3	+	10	1504	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	GAD2_ENST00000259271.3_Missense_Mutation_p.A334V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	334					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTCGTGAGTGCCACAGCTGGA	0.458													False	0	False	10:26559594	0	T	26559594	C	T	26559594	3	4	88	1	0	0	0	0	1	0	0	0	6222	739	26	2	1039	2	GAD2	10	26559594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69375	26559594	108975153	10484	18196											
GAD2	2572	broad.mit.edu	37	chr10	26569946	26569946	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctttattttagggccaactCtgtgacgtggaatccacaca	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26569946C>A	ENST00000376261.3	+	12	1669	c.1166C>A	c.(1165-1167)tCt>tAt	p.S389Y	GAD2_ENST00000259271.3_Missense_Mutation_p.S389Y	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	389					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AGGGCCAACTCTGTGACGTGG	0.498													False	0	False	10:26569946	0	A	26569946	C	A	26569946	3	1	88	1	0	0	0	0	1	0	0	0	6222	913	32	3	1212	3	GAD2	10	26569946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10352	26569946	108964801	10485	18197											
ABI1	10006	broad.mit.edu	37	chr10	27149786	27149786	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctagtaacatctgcagctCtgccattttccacccctctg	5	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27149786C>T	ENST00000355394.4	-	1	230	c.7G>A	c.(7-9)Gag>Aag	p.E3K	ABI1_ENST00000376137.4_Missense_Mutation_p.E3K|ABI1_ENST00000490841.2_Missense_Mutation_p.E3K|ABI1_ENST00000376140.3_Missense_Mutation_p.E3K|ABI1_ENST00000376138.3_Missense_Mutation_p.E3K|ABI1_ENST00000376134.3_Missense_Mutation_p.E3K|ABI1_ENST00000346832.5_Missense_Mutation_p.E3K|ABI1_ENST00000376139.2_Missense_Mutation_p.E3K|ABI1_ENST00000536334.1_Missense_Mutation_p.E3K|ABI1_ENST00000376166.1_Missense_Mutation_p.E3K|ABI1_ENST00000376160.1_Missense_Mutation_p.E3K|ABI1_ENST00000359188.4_Missense_Mutation_p.E3K|ABI1_ENST00000376142.2_Missense_Mutation_p.E3K|ABI1_ENST00000376170.4_Missense_Mutation_p.E3K			Q8IZP0	ABI1_HUMAN	abl-interactor 1	3					actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTGCAGCTCTGCCATTTTC	0.562													False	0	False	10:27149786	0	T	27149786	C	T	27149786	3	4	88	1	0	0	0	0	1	0	0	0	88	922	32	2	1622	2	ABI1	10	27149786	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	579840	27149786	108384961	10486	18198											
ANKRD26	22852	broad.mit.edu	37	chr10	27313378	27313378	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaatattaaaatcttacccAgttatctctctttctaattc	2	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27313378A>C	ENST00000376087.4	-	28	4248	c.4083T>G	c.(4081-4083)acT>acG	p.T1361T	ANKRD26_ENST00000376070.3_Silent_p.T918T|ANKRD26_ENST00000436985.2_Silent_p.T1377T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1360						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AATCTTACCCAGTTATCTCTC	0.224													False	0	True	10:27313378	0	C	27313378	A	C	27313378	2	2	88	1	0	0	0	0	0	0	0	1	654	175	7	4		4	ANKRD26	10	27313378	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	163592	27313378	108221369	10487	18199											
ANKRD26	22852	broad.mit.edu	37	chr10	27313399	27313399	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttatctctctttctaattcAacatttttcttcatttcttg	2	9	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27313399A>G	ENST00000376087.4	-	28	4227	c.4062T>C	c.(4060-4062)gtT>gtC	p.V1354V	ANKRD26_ENST00000376070.3_Silent_p.V911V|ANKRD26_ENST00000436985.2_Silent_p.V1370V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1353						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTCTAATTCAACATTTTTCT	0.249													False	0	False	10:27313399	0	G	27313399	A	G	27313399	2	3	88	1	0	0	0	0	0	0	0	1	654	117	5	4		4	ANKRD26	10	27313399	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21	27313399	108221348	10488	18200											
ANKRD26	22852	broad.mit.edu	37	chr10	27382725	27382725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggccaaatgtagagcCgtcctatgagagtgacagga	13	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27382725C>T	ENST00000376087.4	-	2	411	c.246G>A	c.(244-246)acG>acA	p.T82T	ANKRD26_ENST00000436985.2_Silent_p.T82T	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	82						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AATGTAGAGCCGTCCTATGAG	0.398													False	0	False	10:27382725	0	T	27382725	C	T	27382725	2	4	88	1	0	0	0	0	0	0	0	1	654	639	23	1		1	ANKRD26	10	27382725	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69326	27382725	108152022	10489	18201											
YME1L1	10730	broad.mit.edu	37	chr10	27436510	27436510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcatcctttttgctggctCcatgaacatggatctgtacc	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27436510C>T	ENST00000326799.3	-	3	404	c.256G>A	c.(256-258)Gag>Aag	p.E86K	YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000477432.1_Missense_Mutation_p.E86K	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	86					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						tttgctggctccatgaacatg	0.453													False	0	False	10:27436510	0	T	27436510	C	T	27436510	3	4	88	1	0	0	0	0	1	0	0	0	17571	864	30	2	2137	2	YME1L1	10	27436510	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53785	27436510	108098237	10490	18202											
MASTL	84930	broad.mit.edu	37	chr10	27459101	27459101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgggaagcagtagaactgGatgtaaataatataaatatg	10	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27459101G>A	ENST00000375946.4	+	8	1816	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	MASTL_ENST00000375940.4_Missense_Mutation_p.D405N|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.D405N	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	405	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTAGAACTGGATGTAAATAA	0.438													False	0	False	10:27459101	0	A	27459101	G	A	27459101	3	1	88	1	0	0	0	0	1	0	0	0	9395	1174	41	2	1243	2	MASTL	10	27459101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22591	27459101	108075646	10491	18203											
ACBD5	91452	broad.mit.edu	37	chr10	27497259	27497259	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtctcatcagcacgagggcGatctgctcattgaggctgcc	12	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27497259G>A	ENST00000396271.3	-	10	1446	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	ACBD5_ENST00000375901.1_Silent_p.I331I|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Silent_p.I405I|ACBD5_ENST00000375897.3_Silent_p.I263I|ACBD5_ENST00000375888.1_Silent_p.I449I	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	449					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GCACGAGGGCGATCTGCTCAT	0.572													False	0	False	10:27497259	0	A	27497259	G	A	27497259	2	1	88	1	0	0	0	0	0	0	0	1	125	1048	37	1		1	ACBD5	10	27497259	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38158	27497259	108037488	10492	18204											
PTCHD3	374308	broad.mit.edu	37	chr10	27692284	27692284	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtttcgtatgcagtcaAacctgtaaatttggagggaa	10	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27692284A>C	ENST00000438700.3	-	3	1331	c.1214T>G	c.(1213-1215)tTt>tGt	p.F405C		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	405	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATGCAGTCAAACCTGTAAAT	0.438													False	0	True	10:27692284	0	C	27692284	A	C	27692284	3	2	88	1	0	0	0	0	1	0	0	0	12810	14	1	4	1097	4	PTCHD3	10	27692284	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	195025	27692284	107842463	10493	18205											
MKX	283078	broad.mit.edu	37	chr10	27964176	27964176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttaaaactgctgcaccagCggcactttgacagtctttac	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27964176C>T	ENST00000375790.5	-	7	1473	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	MKX_ENST00000419761.1_Silent_p.P347P			Q8IYA7	MKX_HUMAN	mohawk homeobox	347					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTGCACCAGCGGCACTTTGA	0.463													False	0	False	10:27964176	0	T	27964176	C	T	27964176	2	4	88	1	0	0	0	0	0	0	0	1	9677	755	27	1		1	MKX	10	27964176	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271892	27964176	107570571	10494	18206											
ARMC4	55130	broad.mit.edu	37	chr10	28224123	28224123	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaccacattcacaagtacttCttcaggctgatctgttagaa	6	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28224123C>A	ENST00000305242.5	-	16	2403	c.2311G>T	c.(2311-2313)Gaa>Taa	p.E771*	ARMC4_ENST00000537576.1_Nonsense_Mutation_p.E463*|ARMC4_ENST00000545014.1_Nonsense_Mutation_p.E296*	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	771							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACAAGTACTTCTTCAGGCTGA	0.433													False	0	False	10:28224123	0	A	28224123	C	A	28224123	4	1	88	1	0	0	0	0	0	1	0	0	957	922	32	3	843	3	ARMC4	10	28224123	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	259947	28224123	107310624	10495	18207											
MPP7	143098	broad.mit.edu	37	chr10	28345483	28345483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttgtttctctcaaacGctctattgatggaggcttta	7	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28345483G>A	ENST00000337532.5	-	17	1753	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	MPP7_ENST00000375719.3_Missense_Mutation_p.R493C|MPP7_ENST00000375732.1_Missense_Mutation_p.R493C|MPP7_ENST00000540098.1_Missense_Mutation_p.R493C	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	493	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTCTCAAACGCTCTATTGAT	0.373													False	0	False	10:28345483	0	A	28345483	G	A	28345483	3	1	88	1	0	0	0	0	1	0	0	0	9806	1087	38	1	261	1	MPP7	10	28345483	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121360	28345483	107189264	10496	18208											
WAC	51322	broad.mit.edu	37	chr10	28878735	28878735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagtactactacaattgtcGaacagaagtttcacaatggg	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878735G>A	ENST00000375664.4	+	5	926	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	WAC_ENST00000354911.4_Missense_Mutation_p.R151Q|WAC_ENST00000347934.4_Missense_Mutation_p.R151Q|WAC_ENST00000375646.1_Missense_Mutation_p.R106Q|WAC_ENST00000428935.1_Missense_Mutation_p.R106Q			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TACAATTGTCGAACAGAAGTT	0.318													False	0	False	10:28878735	0	A	28878735	G	A	28878735	3	1	88	1	0	0	0	0	1	0	0	0	17331	1058	37	1	470	1	WAC	10	28878735	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	533252	28878735	106656012	10497	18209											
WAC	51322	broad.mit.edu	37	chr10	28878779	28878779	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaaagagtggcttgaaAggtaattagcttttaatcta	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878779A>C	ENST00000375664.4	+	5	970	c.361A>C	c.(361-363)Aga>Cga	p.R121R	WAC_ENST00000354911.4_Splice_Site_p.R166R|WAC_ENST00000347934.4_Splice_Site_p.R166R|WAC_ENST00000375646.1_Splice_Site_p.R121R|WAC_ENST00000428935.1_Splice_Site_p.R121R			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GTGGCTTGAAAGGTAATTAGC	0.323													False	0	True	10:28878779	0	C	28878779	A	C	28878779	5	2	88	1	0	0	0	0	0	0	1	0	17331	86	3	4	514	4	WAC	10	28878779	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44	28878779	106655968	10498	18210											
WAC	51322	broad.mit.edu	37	chr10	28897207	28897207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accccacatctgcacctccaAcatctgcttcagcggtccct	5	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28897207A>G	ENST00000375664.4	+	8	1486	c.877A>G	c.(877-879)Aca>Gca	p.T293A	WAC_ENST00000354911.4_Missense_Mutation_p.T338A|WAC_ENST00000347934.4_Missense_Mutation_p.T235A|WAC_ENST00000375646.1_Missense_Mutation_p.T190A|WAC_ENST00000428935.1_Missense_Mutation_p.T293A			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TGCACCTCCAACATCTGCTTC	0.478													False	0	False	10:28897207	0	G	28897207	A	G	28897207	3	3	88	1	0	0	0	0	1	0	0	0	17331	43	2	4	1042	4	WAC	10	28897207	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18428	28897207	106637540	10499	18211											
BAMBI	25805	broad.mit.edu	37	chr10	28970438	28970438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcaattacagagggctgCacgatgttctctctcctccc	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28970438C>T	ENST00000375533.3	+	2	884	c.328C>T	c.(328-330)Cac>Tac	p.H110Y		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	110					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	p.H110Y(1)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CAGAGGGCTGCACGATGTTCT	0.532													False	0	False	10:28970438	0	T	28970438	C	T	28970438	3	4	88	1	0	0	0	0	1	0	0	0	1310	710	25	2	334	2	BAMBI	10	28970438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73231	28970438	106564309	10500	18212											
BAMBI	25805	broad.mit.edu	37	chr10	28970998	28970998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaaagagttgtggttcCgggcagcggtcattgccgtg	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28970998C>T	ENST00000375533.3	+	3	1007	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	151					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						GTTGTGGTTCCGGGCAGCGGT	0.483													False	0	True	10:28970998	0	T	28970998	C	T	28970998	3	4	88	1	0	0	0	0	1	0	0	0	1310	643	23	1	461	1	BAMBI	10	28970998	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	560	28970998	106563749	10501	18213											
SVIL	6840	broad.mit.edu	37	chr10	29754582	29754582	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcatggaactgaccacagaGggggctcgggcagggtacac	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29754582G>T	ENST00000375398.2	-	36	6524	c.6075C>A	c.(6073-6075)ccC>ccA	p.P2025P	SVIL_ENST00000535393.1_Silent_p.P939P|SVIL_ENST00000355867.4_Silent_p.P2025P|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Silent_p.P1599P|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA			O95425	SVIL_HUMAN	supervillin	2025					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGACCACAGAGGGGGCTCGGG	0.587													False	0	True	10:29754582	0	T	29754582	G	T	29754582	2	4	88	1	0	0	0	0	0	0	0	1	15503	987	35	3		3	SVIL	10	29754582	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	783584	29754582	105780165	10502	18214											
SVIL	6840	broad.mit.edu	37	chr10	29762878	29762878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagacgcacttctctttgccGgctgccctcaccgagtgctc	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29762878G>A	ENST00000375398.2	-	32	5867	c.5418C>T	c.(5416-5418)gcC>gcT	p.A1806A	SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000535393.1_Silent_p.A720A|SVIL_ENST00000355867.4_Silent_p.A1806A|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Silent_p.A1380A|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA			O95425	SVIL_HUMAN	supervillin	1806					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTCTTTGCCGGCTGCCCTCA	0.597													False	0	False	10:29762878	0	A	29762878	G	A	29762878	2	1	88	1	0	0	0	0	0	0	0	1	15503	1103	39	1		1	SVIL	10	29762878	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8296	29762878	105771869	10503	18215											
SVIL	6840	broad.mit.edu	37	chr10	29769596	29769596	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatccacggaaacgctggtGatctcaaactgcctcctgtc	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29769596G>A	ENST00000375398.2	-	31	5696	c.5247C>T	c.(5245-5247)atC>atT	p.I1749I	SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000535393.1_Silent_p.I663I|SVIL_ENST00000355867.4_Silent_p.I1749I|SVIL_ENST00000538146.1_Silent_p.I541I|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Silent_p.I1323I|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA			O95425	SVIL_HUMAN	supervillin	1749					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AAACGCTGGTGATCTCAAACT	0.582													False	0	False	10:29769596	0	A	29769596	G	A	29769596	2	1	88	1	0	0	0	0	0	0	0	1	15503	1280	45	2		2	SVIL	10	29769596	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6718	29769596	105765151	10504	18216											
SVIL	6840	broad.mit.edu	37	chr10	29779902	29779902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggaggcctgaacccggcGcttgggcctaactgcccgct	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29779902G>A	ENST00000375398.2	-	24	4515	c.4066C>T	c.(4066-4068)Cgc>Tgc	p.R1356C	SVIL_ENST00000535393.1_Missense_Mutation_p.R270C|SVIL_ENST00000355867.4_Missense_Mutation_p.R1356C|SVIL_ENST00000538146.1_Missense_Mutation_p.R148C|SVIL_ENST00000375400.3_Missense_Mutation_p.R930C			O95425	SVIL_HUMAN	supervillin	1356					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGAACCCGGCGCTTGGGCCTA	0.572													False	0	False	10:29779902	0	A	29779902	G	A	29779902	3	1	88	1	0	0	0	0	1	0	0	0	15503	1087	38	1	2646	1	SVIL	10	29779902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10306	29779902	105754845	10505	18217											
KIAA1462	57608	broad.mit.edu	37	chr10	30315241	30315241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgtcctcctgggagtcgGcattcctgaagctcaggact	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30315241G>A	ENST00000375377.1	-	3	3937	c.3836C>T	c.(3835-3837)gCc>gTc	p.A1279V		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1279										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGGGAGTCGGCATTCCTGAA	0.632													False	0	False	10:30315241	0	A	30315241	G	A	30315241	3	1	88	1	0	0	0	0	1	0	0	0	8284	1203	42	2	251	2	KIAA1462	10	30315241	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	535339	30315241	105219506	10506	18218											
KIAA1462	57608	broad.mit.edu	37	chr10	30315768	30315768	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggttctgtcccgctctccgGatgcccggcaggagggactc	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30315768G>A	ENST00000375377.1	-	3	3410	c.3309C>T	c.(3307-3309)atC>atT	p.I1103I		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1103										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCGCTCTCCGGATGCCCGGCA	0.627													False	0	False	10:30315768	0	A	30315768	G	A	30315768	2	1	88	1	0	0	0	0	0	0	0	1	8284	1164	41	2		2	KIAA1462	10	30315768	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	527	30315768	105218979	10507	18219											
KIAA1462	57608	broad.mit.edu	37	chr10	30316752	30316752	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcggcctgcttttggcgtCggtgcctggtccacggacaa	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30316752C>T	ENST00000375377.1	-	3	2426	c.2325G>A	c.(2323-2325)ccG>ccA	p.P775P		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	775										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTTTGGCGTCGGTGCCTGGT	0.637													False	0	False	10:30316752	0	T	30316752	C	T	30316752	2	4	88	1	0	0	0	0	0	0	0	1	8284	871	31	1		1	KIAA1462	10	30316752	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	984	30316752	105217995	10508	18220											
KIAA1462	57608	broad.mit.edu	37	chr10	30316881	30316881	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtagggaatgctgtgtgCgtctgagcttcggaggcagc	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30316881C>T	ENST00000375377.1	-	3	2297	c.2196G>A	c.(2194-2196)acG>acA	p.T732T		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	732										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATGCTGTGTGCGTCTGAGCTT	0.572													False	0	True	10:30316881	0	T	30316881	C	T	30316881	2	4	88	1	0	0	0	0	0	0	0	1	8284	755	27	1		1	KIAA1462	10	30316881	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	30316881	105217866	10509	18221											
KIAA1462	57608	broad.mit.edu	37	chr10	30317361	30317361	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atagtctcgttcatttttttCtttgaacttttcttggtccg	6	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30317361C>A	ENST00000375377.1	-	3	1817	c.1716G>T	c.(1714-1716)aaG>aaT	p.K572N		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	572										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCATTTTTTTCTTTGAACTTT	0.423													False	0	True	10:30317361	0	A	30317361	C	A	30317361	3	1	88	1	0	0	0	0	1	0	0	0	8284	912	32	3	2371	3	KIAA1462	10	30317361	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	480	30317361	105217386	10510	18222											
MTPAP	55149	broad.mit.edu	37	chr10	30611535	30611535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tataaaggagttcggaacttGtcaaggcaatccttcaaaaa	8	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30611535G>A	ENST00000358107.4	-	7	1393	c.1394C>T	c.(1393-1395)aCa>aTa	p.T465I	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.4_Missense_Mutation_p.T335I			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	335	PAP-associated.				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCGGAACTTGTCAAGGCAAT	0.373													False	0	False	10:30611535	0	A	30611535	G	A	30611535	3	1	88	1	0	0	0	0	1	0	0	0	10023	1377	48	2	760	2	MTPAP	10	30611535	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294174	30611535	104923212	10511	18223											
MTPAP	55149	broad.mit.edu	37	chr10	30615489	30615489	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggcactctcctaacacagAcaggatcttctgagttgcaa	8	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30615489A>G	ENST00000358107.4	-	6	1245	c.1246T>C	c.(1246-1248)Tct>Cct	p.S416P	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.4_Missense_Mutation_p.S286P			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	286					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCTAACACAGACAGGATCTTC	0.423													False	0	True	10:30615489	0	G	30615489	A	G	30615489	3	3	88	1	0	0	0	0	1	0	0	0	10023	275	10	4	912	4	MTPAP	10	30615489	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3954	30615489	104919258	10512	18224											
MTPAP	55149	broad.mit.edu	37	chr10	30629378	30629378	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctacgacagcatagagaCcctataccaaaaacataaga	5	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30629378C>T	ENST00000358107.4	-	4	721	c.722G>A	c.(721-723)gGt>gAt	p.G241D	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.4_Splice_Site_p.G111D			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	111					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AGCATAGAGACCCTATACCAA	0.353													False	0	True	10:30629378	0	T	30629378	C	T	30629378	5	4	88	1	0	0	0	0	0	0	1	0	10023	521	18	2	1444	2	MTPAP	10	30629378	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13889	30629378	104905369	10513	18225											
MAP3K8	1326	broad.mit.edu	37	chr10	30747153	30747153	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgctcagcctatccctcCtacctgtacatagtaagtgg	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30747153C>T	ENST00000263056.1	+	7	1710	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	MAP3K8_ENST00000375321.1_Silent_p.S338S|MAP3K8_ENST00000542547.1_Silent_p.S338S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	338	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCTATCCCTCCTACCTGTACA	0.632													False	0	False	10:30747153	0	T	30747153	C	T	30747153	2	4	88	1	0	0	0	0	0	0	0	1	9323	668	24	2		2	MAP3K8	10	30747153	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117775	30747153	104787594	10514	18226											
ZNF438	220929	broad.mit.edu	37	chr10	31138175	31138175	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttcatctggtaccttccGttttcttccttttctctttg	4	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31138175G>A	ENST00000375311.1	-	0	664				ZNF438_ENST00000436087.2_Missense_Mutation_p.R387W|ZNF438_ENST00000331737.6_Missense_Mutation_p.R377W|ZNF438_ENST00000538351.2_Missense_Mutation_p.R338W|ZNF438_ENST00000444692.2_Missense_Mutation_p.R377W|ZNF438_ENST00000452305.1_Missense_Mutation_p.R377W|ZNF438_ENST00000361310.3_Missense_Mutation_p.R387W|ZNF438_ENST00000442986.1_Missense_Mutation_p.R387W|ZNF438_ENST00000413025.1_Missense_Mutation_p.R387W			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GGTACCTTCCGTTTTCTTCCT	0.388													False	0	True	10:31138175	0	A	31138175	G	A	31138175	1	1	88	1	0	0	0	0	0	0	0	0	17993	1144	40	1		1	ZNF438	10	31138175	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	391022	31138175	104396572	10515	18227											
ZEB1	6935	broad.mit.edu	37	chr10	31810297	31810297	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagcacagtaaatctacaAagtcctttgaagatgactaa	7	8	1	3	rs146821579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31810297A>C	ENST00000446923.2	+	7	2377	c.1986A>C	c.(1984-1986)caA>caC	p.Q662H	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.Q658H|ZEB1_ENST00000542815.3_Missense_Mutation_p.Q611H|ZEB1_ENST00000361642.5_Missense_Mutation_p.Q679H|ZEB1_ENST00000320985.10_Missense_Mutation_p.Q678H	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	678					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TAAATCTACAAAGTCCTTTGA	0.448													False	0	True	10:31810297	0	C	31810297	A	C	31810297	3	2	88	1	0	0	0	0	1	0	0	0	17706	11	1	4	2074	4	ZEB1	10	31810297	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	672122	31810297	103724450	10516	18228											
ZEB1	6935	broad.mit.edu	37	chr10	31815766	31815766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacacatgaatcatcgctaCtcctactgtaagagagaagc	7	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31815766C>T	ENST00000446923.2	+	9	3292	c.2901C>T	c.(2899-2901)taC>taT	p.Y967Y	ZEB1_ENST00000560721.2_Silent_p.Y963Y|ZEB1_ENST00000542815.3_Silent_p.Y916Y|ZEB1_ENST00000361642.5_Silent_p.Y984Y|ZEB1_ENST00000320985.10_Silent_p.Y983Y	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	983					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATCATCGCTACTCCTACTGTA	0.498													False	0	False	10:31815766	0	T	31815766	C	T	31815766	2	4	88	1	0	0	0	0	0	0	0	1	17706	576	20	2		2	ZEB1	10	31815766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5469	31815766	103718981	10517	18229											
ARHGAP12	94134	broad.mit.edu	37	chr10	32099638	32099638	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtactgtgccattctctctCtgacacagattagcgagatt	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32099638C>A	ENST00000375250.5	-	14	2140	c.1899G>T	c.(1897-1899)caG>caT	p.Q633H	ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q658H|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q611H|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.Q663H|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q611H	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	663					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CATTCTCTCTCTGACACAGAT	0.323													False	0	True	10:32099638	0	A	32099638	C	A	32099638	3	1	88	1	0	0	0	0	1	0	0	0	867	912	32	3	571	3	ARHGAP12	10	32099638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283872	32099638	103435109	10518	18230											
KIF5B	3799	broad.mit.edu	37	chr10	32320176	32320176	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattcagctcagcttgcataTtgtcttgatcccttctggta	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32320176T>C	ENST00000302418.4	-	14	1863	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	469					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AGCTTGCATATTGTCTTGATC	0.373			T	"RET, ALK"	NSCLC								False	0	False	10:32320176	0	C	32320176	T	C	32320176	3	2	88	1	0	0	0	0	1	0	0	0	8356	1493	52	4	1533	4	KIF5B	10	32320176	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220538	32320176	103214571	10519	18231											
EPC1	80314	broad.mit.edu	37	chr10	32560500	32560500	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accttggaactgaatctacaGaggatgaagatgggaccttg	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32560500G>T	ENST00000319778.6	-	13	2653	c.2351C>A	c.(2350-2352)tCt>tAt	p.S784Y	EPC1_ENST00000263062.8_Missense_Mutation_p.S807Y|EPC1_ENST00000375110.2_Missense_Mutation_p.S734Y	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	807					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGAATCTACAGAGGATGAAGA	0.428													False	0	False	10:32560500	0	T	32560500	G	T	32560500	3	4	88	1	0	0	0	0	1	0	0	0	5192	942	33	3	98	3	EPC1	10	32560500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	240324	32560500	102974247	10520	18232											
EPC1	80314	broad.mit.edu	37	chr10	32560597	32560597	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaagtcctaggtatatgtcGtgcatttattggggcaatag	11	5	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32560597G>A	ENST00000319778.6	-	13	2556	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	EPC1_ENST00000263062.8_Nonsense_Mutation_p.R775*|EPC1_ENST00000375110.2_Nonsense_Mutation_p.R702*	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	775					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GGTATATGTCGTGCATTTATT	0.443													False	0	False	10:32560597	0	A	32560597	G	A	32560597	4	1	88	1	0	0	0	0	0	1	0	0	5192	1153	40	1	195	1	EPC1	10	32560597	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97	32560597	102974150	10521	18233											
EPC1	80314	broad.mit.edu	37	chr10	32635840	32635840	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgaaacgacagtttacTcatctcaggcgcagcagata	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32635840T>C	ENST00000319778.6	-	1	306	c.4A>G	c.(4-6)Agt>Ggt	p.S2G	EPC1_ENST00000480402.1_5'UTR|AL391839.1_ENST00000410377.1_RNA|RP11-135A24.4_ENST00000412085.1_RNA|EPC1_ENST00000263062.8_Missense_Mutation_p.S2G|EPC1_ENST00000375110.2_Intron	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	2					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GACAGTTTACTCATCTCAGGC	0.642													False	0	False	10:32635840	0	C	32635840	T	C	32635840	3	2	88	1	0	0	0	0	1	0	0	0	5192	1551	54	4	2566	4	EPC1	10	32635840	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	75243	32635840	102898907	10522	18234											
C10orf68	79741	broad.mit.edu	37	chr10	32978017	32978017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatgaaaatcttatacttaGgcatcaagactcaatgtcaa	5	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32978017G>T	ENST00000375030.2	+	8	833	c.215G>T	c.(214-216)aGg>aTg	p.R72M	C10orf68_ENST00000375028.3_Missense_Mutation_p.R78M|C10orf68_ENST00000375025.4_Missense_Mutation_p.R64M			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	64										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						CTTATACTTAGGCATCAAGAC	0.299													False	0	False	10:32978017	0	T	32978017	G	T	32978017	3	4	88	1	0	0	0	0	1	0	0	0	1621	1000	35	3	201	3	C10orf68	10	32978017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342177	32978017	102556730	10523	18235											
C10orf68	79741	broad.mit.edu	37	chr10	32983848	32983848	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaatcttgtgcttgaacatCaagattcagtgtcaaaactg	7	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32983848C>T	ENST00000375030.2	+	9	949	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	C10orf68_ENST00000375028.3_Intron|C10orf68_ENST00000375025.4_Nonsense_Mutation_p.Q103*			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	103										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GCTTGAACATCAAGATTCAGT	0.318													False	0	False	10:32983848	0	T	32983848	C	T	32983848	4	4	88	1	0	0	0	0	0	1	0	0	1621	827	29	2	321	2	C10orf68	10	32983848	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5831	32983848	102550899	10524	18236											
C10orf68	79741	broad.mit.edu	37	chr10	33113457	33113457	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttatagagactgatgaaCgattgcatagtacaactgag	9	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33113457C>T	ENST00000375028.3	+	11	1004	c.934C>T	c.(934-936)Cga>Tga	p.R312*	C10orf68_ENST00000375030.2_Intron|C10orf68_ENST00000375025.4_Nonsense_Mutation_p.R372*			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	336										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GACTGATGAACGATTGCATAG	0.284													False	0	False	10:33113457	0	T	33113457	C	T	33113457	4	4	88	1	0	0	0	0	0	1	0	0	1621	528	19	1	1048	1	C10orf68	10	33113457	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129609	33113457	102421290	10525	18237											
C10orf68	79741	broad.mit.edu	37	chr10	33135307	33135307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtttaattctatagagaCtgataaagaactcttaaaag	6	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33135307C>T	ENST00000375030.2	+	18	1832	c.1214C>T	c.(1213-1215)aCt>aTt	p.T405I	C10orf68_ENST00000375028.3_Missense_Mutation_p.T450I|C10orf68_ENST00000375025.4_Missense_Mutation_p.T510I			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	446										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TCTATAGAGACTGATAAAGAA	0.289													False	0	False	10:33135307	0	T	33135307	C	T	33135307	3	4	88	1	0	0	0	0	1	0	0	0	1621	565	20	2	1395	2	C10orf68	10	33135307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21850	33135307	102399440	10526	18238											
NRP1	8829	broad.mit.edu	37	chr10	33495125	33495125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatccaggctacagattcGcatccagggagcagactcct	10	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33495125G>A	ENST00000374816.3	-	11	2055	c.1916C>T	c.(1915-1917)gCg>gTg	p.A639V	NRP1_ENST00000374867.2_Intron|NRP1_ENST00000374823.5_Intron|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000395995.1_Intron|NRP1_ENST00000374822.4_Intron|NRP1_ENST00000265371.4_Intron|NRP1_ENST00000374875.1_Intron			O14786	NRP1_HUMAN	neuropilin 1	0					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTACAGATTCGCATCCAGGGA	0.483													False	0	False	10:33495125	0	A	33495125	G	A	33495125	3	1	88	1	0	0	0	0	1	0	0	0	10728	1102	38	1		1	NRP1	10	33495125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	359818	33495125	102039622	10527	18239											
NRP1	8829	broad.mit.edu	37	chr10	33502412	33502412	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgaacaccttgttctctcGgtgcttcccaccctgaatga	7	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33502412G>A	ENST00000265371.4	-	10	2041	c.1516C>T	c.(1516-1518)Cga>Tga	p.R506*	NRP1_ENST00000374867.2_Nonsense_Mutation_p.R506*|NRP1_ENST00000374816.3_Nonsense_Mutation_p.R506*|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374823.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.R506*|NRP1_ENST00000395995.1_Nonsense_Mutation_p.R506*|NRP1_ENST00000374822.4_Nonsense_Mutation_p.R506*|NRP1_ENST00000432372.2_Nonsense_Mutation_p.R506*|NRP1_ENST00000374875.1_Nonsense_Mutation_p.R325*			O14786	NRP1_HUMAN	neuropilin 1	506	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTGTTCTCTCGGTGCTTCCCA	0.522													False	0	True	10:33502412	0	A	33502412	G	A	33502412	4	1	88	1	0	0	0	0	0	1	0	0	10728	1124	39	1	1302	1	NRP1	10	33502412	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7287	33502412	102032335	10528	18240											
PARD3	56288	broad.mit.edu	37	chr10	34400149	34400149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaagtctgttcagcctcGcaacctgagaaggggagggg	15	9	3	2	rs144433754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34400149G>A	ENST00000374789.3	-	25	4344	c.4019C>T	c.(4018-4020)gCg>gTg	p.A1340V	PARD3_ENST00000346874.4_Missense_Mutation_p.A1303V|PARD3_ENST00000374794.3_Missense_Mutation_p.A1228V|PARD3_ENST00000374790.3_Missense_Mutation_p.A1280V|PARD3_ENST00000545693.1_Missense_Mutation_p.A1324V|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337V|PARD3_ENST00000350537.4_Missense_Mutation_p.A1294V|PARD3_ENST00000545260.1_Missense_Mutation_p.A1250V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1340					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTTCAGCCTCGCAACCTGAGA	0.542													False	0	False	10:34400149	0	A	34400149	G	A	34400149	3	1	88	1	0	0	0	0	1	0	0	0	11511	1087	38	1	55	1	PARD3	10	34400149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	897737	34400149	101134598	10529	18241											
PARD3	56288	broad.mit.edu	37	chr10	34649102	34649102	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cactgacaccaaggcctgcaGatcctgaatcattaagtggg	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34649102G>T	ENST00000374789.3	-	13	2118	c.1793C>A	c.(1792-1794)tCt>tAt	p.S598Y	PARD3_ENST00000346874.4_Missense_Mutation_p.S598Y|PARD3_ENST00000374794.3_Missense_Mutation_p.S541Y|PARD3_ENST00000374768.1_Missense_Mutation_p.S36Y|PARD3_ENST00000544292.1_Missense_Mutation_p.S315Y|PARD3_ENST00000374790.3_Missense_Mutation_p.S541Y|PARD3_ENST00000545693.1_Missense_Mutation_p.S585Y|PARD3_ENST00000374773.1_Missense_Mutation_p.S598Y|PARD3_ENST00000374788.3_Missense_Mutation_p.S598Y|PARD3_ENST00000340077.5_Missense_Mutation_p.S598Y|PARD3_ENST00000374776.1_Missense_Mutation_p.S585Y|PARD3_ENST00000350537.4_Missense_Mutation_p.S585Y|PARD3_ENST00000545260.1_Missense_Mutation_p.S541Y	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	598	PDZ 3.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AAGGCCTGCAGATCCTGAATC	0.428													False	0	False	10:34649102	0	T	34649102	G	T	34649102	3	4	88	1	0	0	0	0	1	0	0	0	11511	942	33	3	2364	3	PARD3	10	34649102	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	248953	34649102	100885645	10530	18242											
PARD3	56288	broad.mit.edu	37	chr10	34985290	34985290	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaaagaatgtcatcaaggtCtagtattcctccatctccat	5	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34985290C>T	ENST00000374789.3	-	2	503	c.178G>A	c.(178-180)Gac>Aac	p.D60N	PARD3_ENST00000346874.4_Missense_Mutation_p.D60N|PARD3_ENST00000374794.3_Missense_Mutation_p.D60N|PARD3_ENST00000374790.3_Missense_Mutation_p.D60N|PARD3_ENST00000545693.1_Missense_Mutation_p.D60N|PARD3_ENST00000374773.1_Missense_Mutation_p.D60N|PARD3_ENST00000374788.3_Missense_Mutation_p.D60N|PARD3_ENST00000340077.5_Missense_Mutation_p.D60N|PARD3_ENST00000374776.1_Missense_Mutation_p.D60N|PARD3_ENST00000350537.4_Missense_Mutation_p.D60N|PARD3_ENST00000545260.1_Missense_Mutation_p.D60N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	60					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCATCAAGGTCTAGTATTCCT	0.408													False	0	False	10:34985290	0	T	34985290	C	T	34985290	3	4	88	1	0	0	0	0	1	0	0	0	11511	913	32	2	4023	2	PARD3	10	34985290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	336188	34985290	100549457	10531	18243											
CCNY	219771	broad.mit.edu	37	chr10	35841947	35841947	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattgtcttgtcttcccagGtgtaccttgaaagactttta	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35841947G>A	ENST00000374704.4	+	8	760	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	CCNY_ENST00000265375.9_Splice_Site_p.V140M|CCNY_ENST00000339497.5_Splice_Site_p.V169M|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000374706.1_Splice_Site_p.V140M	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	194	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						GTCTTCCCAGGTGTACCTTGA	0.438													False	0	False	10:35841947	0	A	35841947	G	A	35841947	5	1	88	1	0	0	0	0	0	0	1	0	2959	1275	44	2	610	2	CCNY	10	35841947	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	856657	35841947	99692800	10532	18244											
CCNY	219771	broad.mit.edu	37	chr10	35842011	35842011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccggccaactggaagcggaTtgttttaggggcgatcctgc	14	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35842011T>C	ENST00000374704.4	+	8	824	c.644T>C	c.(643-645)aTt>aCt	p.I215T	CCNY_ENST00000265375.9_Missense_Mutation_p.I161T|CCNY_ENST00000339497.5_Missense_Mutation_p.I190T|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000374706.1_Missense_Mutation_p.I161T	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	215	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TGGAAGCGGATTGTTTTAGGG	0.493													False	0	False	10:35842011	0	C	35842011	T	C	35842011	3	2	88	1	0	0	0	0	1	0	0	0	2959	1493	52	4	674	4	CCNY	10	35842011	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64	35842011	99692736	10533	18245											
GJD4	219770	broad.mit.edu	37	chr10	35896742	35896742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatgtcctgcaccgaggaGccacgctcgccgcgctgggc	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35896742G>A	ENST00000321660.1	+	2	459	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	101					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCACCGAGGAGCCACGCTCGC	0.746													False	0	False	10:35896742	0	A	35896742	G	A	35896742	3	1	88	1	0	0	0	0	1	0	0	0	6464	971	34	2	307	2	GJD4	10	35896742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54731	35896742	99638005	10534	18246											
GJD4	219770	broad.mit.edu	37	chr10	35897020	35897020	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacgtgtcgcggcccacagaGaagtccctgctgatgctgtt	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35897020G>T	ENST00000321660.1	+	2	737	c.579G>T	c.(577-579)gaG>gaT	p.E193D	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	193					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCCACAGAGAAGTCCCTGC	0.647													False	0	False	10:35897020	0	T	35897020	G	T	35897020	3	4	88	1	0	0	0	0	1	0	0	0	6464	933	33	3	585	3	GJD4	10	35897020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	35897020	99637727	10535	18247											
FZD8	8325	broad.mit.edu	37	chr10	35929026	35929026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgggcacaagccacgcGgccaggtggaagtactgcga	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35929026G>A	ENST00000374694.1	-	1	1336	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	444					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CAAGCCACGCGGCCAGGTGGA	0.657													False	0	False	10:35929026	0	A	35929026	G	A	35929026	2	1	88	1	0	0	0	0	0	0	0	1	6178	1103	39	1		1	FZD8	10	35929026	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32006	35929026	99605721	10536	18248											
FZD8	8325	broad.mit.edu	37	chr10	35929686	35929686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggctcgcagggagccgcGccgccgccagggggccgcgc	19	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35929686G>A	ENST00000374694.1	-	1	676	c.672C>T	c.(670-672)ggC>ggT	p.G224G		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	224					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGGAGCCGCGCCGCCGCCAG	0.806													False	0	True	10:35929686	0	A	35929686	G	A	35929686	2	1	88	1	0	0	0	0	0	0	0	1	6178	1074	38	1		1	FZD8	10	35929686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	660	35929686	99605061	10537	18249											
ANKRD30A	91074	broad.mit.edu	37	chr10	37441021	37441021	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagaatccaaacaaaaggActatgaagaaaattcttggg	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:37441021A>G	ENST00000374660.1	+	12	1610	c.1511A>G	c.(1510-1512)gAc>gGc	p.D504G	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D504G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D504G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	560						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAACAAAAGGACTATGAAGAA	0.299													False	0	False	10:37441021	0	G	37441021	A	G	37441021	3	3	88	1	0	0	0	0	1	0	0	0	658	275	10	4	1557	4	ANKRD30A	10	37441021	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1511335	37441021	98093726	10538	18250											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486234	37486234	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgagaagccatctgccttCgaggtatttagttttatgat	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:37486234C>T	ENST00000374660.1	+	34	2928	c.2829C>T	c.(2827-2829)ttC>ttT	p.F943F	ANKRD30A_ENST00000602533.1_Silent_p.F824F|ANKRD30A_ENST00000361713.1_Silent_p.F824F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	997						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F824F(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCTGCCTTCGAGGTATTTA	0.328													False	0	False	10:37486234	0	T	37486234	C	T	37486234	2	4	88	1	0	0	0	0	0	0	0	1	658	883	31	1		1	ANKRD30A	10	37486234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45213	37486234	98048513	10539	18251											
ZNF25	219749	broad.mit.edu	37	chr10	38241882	38241882	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgataggtggtaaaataTtttcttacattctttacact	6	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38241882T>G	ENST00000302609.7	-	6	756	c.544A>C	c.(544-546)Ata>Cta	p.I182L	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TGGTAAAATATTTTCTTACAT	0.353													False	0	True	10:38241882	0	G	38241882	T	G	38241882	3	3	88	1	0	0	0	0	1	0	0	0	17877	1493	52	4	830	4	ZNF25	10	38241882	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	755648	38241882	97292865	10540	18252											
ZNF33A	7581	broad.mit.edu	37	chr10	38343685	38343685	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagactttgcagcatgagaaGattcaaactttagagcacaa	9	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38343685G>T	ENST00000374618.3	+	5	811	c.633G>T	c.(631-633)aaG>aaT	p.K211N	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.K210N|ZNF33A_ENST00000458705.2_Missense_Mutation_p.K210N|ZNF33A_ENST00000432900.2_Missense_Mutation_p.K217N	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	210						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGCATGAGAAGATTCAAACTT	0.358													False	0	False	10:38343685	0	T	38343685	G	T	38343685	3	4	88	1	0	0	0	0	1	0	0	0	17937	933	33	3	647	3	ZNF33A	10	38343685	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101803	38343685	97191062	10541	18253											
ZNF33A	7581	broad.mit.edu	37	chr10	38344716	38344716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcagaaaccctttgcatGtcccgaatgtgggaaattct	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38344716G>A	ENST00000374618.3	+	5	1842	c.1664G>A	c.(1663-1665)tGt>tAt	p.C555Y	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.C554Y|ZNF33A_ENST00000458705.2_Missense_Mutation_p.C554Y|ZNF33A_ENST00000432900.2_Missense_Mutation_p.C561Y	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	554						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCCTTTGCATGTCCCGAATGT	0.428													False	0	False	10:38344716	0	A	38344716	G	A	38344716	3	1	88	1	0	0	0	0	1	0	0	0	17937	1377	48	2	1678	2	ZNF33A	10	38344716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1031	38344716	97190031	10542	18254											
ZNF37A	7587	broad.mit.edu	37	chr10	38403694	38403694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttccagggatcagtgtcGtttagggatgtgactgtggg	15	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38403694G>A	ENST00000361085.5	+	5	372	c.27G>A	c.(25-27)tcG>tcA	p.S9S	ZNF37A_ENST00000479469.1_3'UTR|ZNF37A_ENST00000351773.3_Silent_p.S9S	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A		KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GATCAGTGTCGTTTAGGGATG	0.453													False	0	True	10:38403694	0	A	38403694	G	A	38403694	2	1	88	1	0	0	0	0	0	0	0	1	17955	1132	40	1		1	ZNF37A	10	38403694	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58978	38403694	97131053	10543	18255											
ZNF37A	7587	broad.mit.edu	37	chr10	38406336	38406336	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaattaattaataccagtaGaaactattcaataatgaagt	5	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38406336G>T	ENST00000361085.5	+	7	602	c.257G>T	c.(256-258)aGa>aTa	p.R86I	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R86I	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R86I(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATACCAGTAGAAACTATTCA	0.308													False	0	True	10:38406336	0	T	38406336	G	T	38406336	3	4	88	1	0	0	0	0	1	0	0	0	17955	942	33	3	271	3	ZNF37A	10	38406336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2642	38406336	97128411	10544	18256											
ZNF37A	7587	broad.mit.edu	37	chr10	38407455	38407455	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cggtttcacagaacatctgaGaagacacacaggggagaaac	11	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38407455G>A	ENST00000361085.5	+	7	1721	c.1376G>A	c.(1375-1377)aGa>aAa	p.R459K	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R459K	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAACATCTGAGAAGACACACA	0.403													False	0	False	10:38407455	0	A	38407455	G	A	38407455	3	1	88	1	0	0	0	0	1	0	0	0	17955	942	33	2	1390	2	ZNF37A	10	38407455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1119	38407455	97127292	10545	18257											
ZNF33B	7582	broad.mit.edu	37	chr10	43088932	43088932	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttatctcctatgtgagttCtctgatgctgtgtaagatgt	10	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43088932C>A	ENST00000359467.3	-	5	1580	c.1466G>T	c.(1465-1467)aGa>aTa	p.R489I	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	489						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R489I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TATGTGAGTTCTCTGATGCTG	0.403													False	0	False	10:43088932	0	A	43088932	C	A	43088932	3	1	88	1	0	0	0	0	1	0	0	0	17938	913	32	3	874	3	ZNF33B	10	43088932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4681477	43088932	92445815	10546	18258											
ZNF33B	7582	broad.mit.edu	37	chr10	43088961	43088961	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaagatgtgacttttgAcaaaaggatttcccacactc	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43088961A>G	ENST00000359467.3	-	5	1551	c.1437T>C	c.(1435-1437)tgT>tgC	p.C479C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	479						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GTGACTTTTGACAAAAGGATT	0.393													False	0	False	10:43088961	0	G	43088961	A	G	43088961	2	3	88	1	0	0	0	0	0	0	0	1	17938	273	10	4		4	ZNF33B	10	43088961	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29	43088961	92445786	10547	18259											
BMS1	9790	broad.mit.edu	37	chr10	43315745	43315745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttcagtatgagggttttcGacctgggatgtacgtccgca	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43315745G>A	ENST00000374518.5	+	16	2705	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGGGTTTTCGACCTGGGATG	0.448													False	0	False	10:43315745	0	A	43315745	G	A	43315745	3	1	88	1	0	0	0	0	1	0	0	0	1477	1058	37	1	2700	1	BMS1	10	43315745	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226784	43315745	92219002	10548	18260											
RET	5979	broad.mit.edu	37	chr10	43596002	43596002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtacgtccatgccctgCgggacgcccctgaggaggtg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43596002C>T	ENST00000355710.3	+	2	401	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RET_ENST00000340058.5_Missense_Mutation_p.R57W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	57					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCATGCCCTGCGGGACGCCCC	0.622		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				False	0	True	10:43596002	0	T	43596002	C	T	43596002	3	4	88	1	0	0	0	0	1	0	0	0	13314	759	27	1	175	1	RET	10	43596002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280257	43596002	91938745	10549	18261											
RET	5979	broad.mit.edu	37	chr10	43601943	43601943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acctgggcccagcagaccttCcgggtggaacactggcccaa	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43601943C>A	ENST00000355710.3	+	5	1219	c.987C>A	c.(985-987)ttC>ttA	p.F329L	RET_ENST00000340058.5_Missense_Mutation_p.F329L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	329					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGCAGACCTTCCGGGTGGAAC	0.647		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				False	0	False	10:43601943	0	A	43601943	C	A	43601943	3	1	88	1	0	0	0	0	1	0	0	0	13314	854	30	3	1005	3	RET	10	43601943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5941	43601943	91932804	10550	18262											
RET	5979	broad.mit.edu	37	chr10	43612162	43612162	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagggtacaccacggtggCcgtgaagatgctgaaaggta	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43612162C>A	ENST00000355710.3	+	12	2499	c.2267C>A	c.(2266-2268)gCc>gAc	p.A756D	RET_ENST00000340058.5_Missense_Mutation_p.A756D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	756	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.A756V(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACCACGGTGGCCGTGAAGATG	0.602		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				False	0	False	10:43612162	0	A	43612162	C	A	43612162	3	1	88	1	0	0	0	0	1	0	0	0	13314	739	26	3	2313	3	RET	10	43612162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10219	43612162	91922585	10551	18263											
RET	5979	broad.mit.edu	37	chr10	43613844	43613844	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcctccccgagtgagctgCgagacctgctgtcagagttc	12	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43613844C>T	ENST00000355710.3	+	13	2540	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*	RET_ENST00000340058.5_Nonsense_Mutation_p.R770*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	770	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.R770*(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAGTGAGCTGCGAGACCTGCT	0.562		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				False	0	False	10:43613844	0	T	43613844	C	T	43613844	4	4	88	1	0	0	0	0	0	1	0	0	13314	760	27	1	2358	1	RET	10	43613844	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1682	43613844	91920903	10552	18264											
RET	5979	broad.mit.edu	37	chr10	43615116	43615116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggaccacccggatgagCgggccctcaccatgggcgac	13	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43615116C>T	ENST00000355710.3	+	14	2762	c.2530C>T	c.(2530-2532)Cgg>Tgg	p.R844W	RET_ENST00000340058.5_Missense_Mutation_p.R844W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	844	Protein kinase.		R -> L (in MTC; familial form; dbSNP:rs55947360).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCCGGATGAGCGGGCCCTCAC	0.647		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				False	0	True	10:43615116	0	T	43615116	C	T	43615116	3	4	88	1	0	0	0	0	1	0	0	0	13314	759	27	1	2584	1	RET	10	43615116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1272	43615116	91919631	10553	18265											
RET	5979	broad.mit.edu	37	chr10	43623580	43623580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtcagacccgaactggCctggagagagtcctgtacca	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43623580C>T	ENST00000355710.3	+	20	3440	c.3208C>T	c.(3208-3210)Cct>Tct	p.P1070S		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1070					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCCGAACTGGCCTGGAGAGAG	0.448		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				False	0	False	10:43623580	0	T	43623580	C	T	43623580	3	4	88	1	0	0	0	0	1	0	0	0	13314	739	26	2	3318	2	RET	10	43623580	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8464	43623580	91911167	10554	18266											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43650877	43650877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaatgagtgagaagatgCggtcactgcaagaaagaagg	14	4	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43650877C>T	ENST00000374466.3	+	2	615	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R94W	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	94					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.R94W(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGAGAAGATGCGGTCACTGCA	0.428													False	0	False	10:43650877	0	T	43650877	C	T	43650877	3	4	88	1	0	0	0	0	1	0	0	0	3964	759	27	1	282	1	CSGALNACT2	10	43650877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27297	43650877	91883870	10555	18267											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43650908	43650908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagaaggaatgtaggggCtaatggcataggctatcaga	14	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43650908C>T	ENST00000374466.3	+	2	646	c.311C>T	c.(310-312)gCt>gTt	p.A104V	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.A104V	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	104					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATGTAGGGGCTAATGGCATA	0.433													False	0	True	10:43650908	0	T	43650908	C	T	43650908	3	4	88	1	0	0	0	0	1	0	0	0	3964	797	28	2	313	2	CSGALNACT2	10	43650908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	43650908	91883839	10556	18268											
RASGEF1A	221002	broad.mit.edu	37	chr10	43691985	43691985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctcactttcaaaggaggCgacgaagagagctgagagat	12	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43691985C>T	ENST00000395809.1	-	12	3866	c.1360G>A	c.(1360-1362)Gcc>Acc	p.A454T	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.A462T|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.A454T			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	454	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.A401T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCAAAGGAGGCGACGAAGAGA	0.557													False	0	False	10:43691985	0	T	43691985	C	T	43691985	3	4	88	1	0	0	0	0	1	0	0	0	13148	768	27	1	93	1	RASGEF1A	10	43691985	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41077	43691985	91842762	10557	18269											
RASGEF1A	221002	broad.mit.edu	37	chr10	43694616	43694616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgaagaactccaacatGcgggtccggtgtttcttctt	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43694616G>A	ENST00000395809.1	-	8	3382	c.876C>T	c.(874-876)cgC>cgT	p.R292R	RASGEF1A_ENST00000374459.1_Silent_p.R300R|RASGEF1A_ENST00000395810.1_Silent_p.R292R			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	292	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						ACTCCAACATGCGGGTCCGGT	0.607													False	0	False	10:43694616	0	A	43694616	G	A	43694616	2	1	88	1	0	0	0	0	0	0	0	1	13148	1306	46	2		2	RASGEF1A	10	43694616	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2631	43694616	91840131	10558	18270											
HNRNPF	3185	broad.mit.edu	37	chr10	43882434	43882434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaatgtcgttctcggtcGctttgtacggcaggcccctc	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43882434G>A	ENST00000443950.2	-	3	1385	c.899C>T	c.(898-900)gCg>gTg	p.A300V	HNRNPF_ENST00000357065.4_Missense_Mutation_p.A300V|HNRNPF_ENST00000544000.1_Missense_Mutation_p.A300V|HNRNPF_ENST00000356053.3_Missense_Mutation_p.A300V|HNRNPF_ENST00000337970.3_Missense_Mutation_p.A300V	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	300	RRM 3.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GTTCTCGGTCGCTTTGTACGG	0.522													False	0	False	10:43882434	0	A	43882434	G	A	43882434	3	1	88	1	0	0	0	0	1	0	0	0	7312	1087	38	1	352	1	HNRNPF	10	43882434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187818	43882434	91652313	10559	18271											
HNRNPF	3185	broad.mit.edu	37	chr10	43882502	43882502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcactgtgaactcactgtcGccgtatctgtggtcatacat	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43882502G>A	ENST00000443950.2	-	3	1317	c.831C>T	c.(829-831)ggC>ggT	p.G277G	HNRNPF_ENST00000357065.4_Silent_p.G277G|HNRNPF_ENST00000544000.1_Silent_p.G277G|HNRNPF_ENST00000356053.3_Silent_p.G277G|HNRNPF_ENST00000337970.3_Silent_p.G277G	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	277					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTCACTGTCGCCGTATCTGT	0.552													False	0	False	10:43882502	0	A	43882502	G	A	43882502	2	1	88	1	0	0	0	0	0	0	0	1	7312	1074	38	1		1	HNRNPF	10	43882502	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68	43882502	91652245	10560	18272											
ZNF239	0	broad.mit.edu	37	chr10	44053102	44053102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatccaaagattcttttaaCtggccattctggcaagttgc	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44053102C>A	ENST00000306006.6	-	2	1078	c.426G>T	c.(424-426)caG>caT	p.Q142H	ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000426961.1_Missense_Mutation_p.Q142H|ZNF239_ENST00000374446.2_Missense_Mutation_p.Q142H|ZNF239_ENST00000535642.1_Missense_Mutation_p.Q142H	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTCTTTTAACTGGCCATTCT	0.448													False	0	False	10:44053102	0	A	44053102	C	A	44053102	3	1	88	1	0	0	0	0	1	0	0	0	17874	564	20	3	954	3	ZNF239	10	44053102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170600	44053102	91481645	10561	18273											
ZNF239	0	broad.mit.edu	37	chr10	44053455	44053455	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacaaggggaaatatctaGttcaggctccccatccactt	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44053455G>A	ENST00000306006.6	-	2	725	c.73C>T	c.(73-75)Cta>Tta	p.L25L	ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000426961.1_Silent_p.L25L|ZNF239_ENST00000374446.2_Silent_p.L25L|ZNF239_ENST00000535642.1_Silent_p.L25L	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAAATATCTAGTTCAGGCTCC	0.458													False	0	False	10:44053455	0	A	44053455	G	A	44053455	2	1	88	1	0	0	0	0	0	0	0	1	17874	1020	36	2		2	ZNF239	10	44053455	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	44053455	91481292	10562	18274											
ZNF485	220992	broad.mit.edu	37	chr10	44112192	44112192	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatccttttaagtcatcagaGaattcatactggccagaaac	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44112192G>T	ENST00000361807.3	+	5	895	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I|ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGTCATCAGAGAATTCATACT	0.393													False	0	False	10:44112192	0	T	44112192	G	T	44112192	3	4	88	1	0	0	0	0	1	0	0	0	18021	942	33	3	715	3	ZNF485	10	44112192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58737	44112192	91422555	10563	18275											
ZNF32	7580	broad.mit.edu	37	chr10	44139542	44139542	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcttcgctggtgcacagccaGactccctctctgggtgaagc	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44139542G>A	ENST00000395797.1	-	3	966	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	ZNF32_ENST00000374433.2_Silent_p.L260L|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TGCACAGCCAGACTCCCTCTC	0.498													False	0	False	10:44139542	0	A	44139542	G	A	44139542	2	1	88	1	0	0	0	0	0	0	0	1	17921	933	33	2		2	ZNF32	10	44139542	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27350	44139542	91395205	10564	18276											
ZNF32	7580	broad.mit.edu	37	chr10	44139576	44139576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagctttttccacactgGccgcacagatagggtgtctc	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44139576G>A	ENST00000395797.1	-	3	932	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ZNF32_ENST00000374433.2_Silent_p.G248G|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTCCACACTGGCCGCACAGAT	0.537													False	0	False	10:44139576	0	A	44139576	G	A	44139576	2	1	88	1	0	0	0	0	0	0	0	1	17921	1190	42	2		2	ZNF32	10	44139576	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	44139576	91395171	10565	18277											
ZNF32	7580	broad.mit.edu	37	chr10	44141643	44141643	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattcttccatgggctgttcCtgagcacctgagggagaaaa	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44141643C>A	ENST00000395797.1	-	0	127				ZNF32_ENST00000374433.2_De_novo_Start_InFrame|ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TGGGCTGTTCCTGAGCACCTG	0.438													False	0	False	10:44141643	0	A	44141643	C	A	44141643	1	1	88	1	0	0	0	0	0	0	0	0	17921	696	24	3		3	ZNF32	10	44141643	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2067	44141643	91393104	10566	18278											
OR13A1	79290	broad.mit.edu	37	chr10	45799016	45799016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacttgctcttccctgcGctgtagccagagaccgggct	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45799016G>A	ENST00000553795.1	-	4	1163	c.855C>T	c.(853-855)agC>agT	p.S285S	OR13A1_ENST00000374401.2_Silent_p.S285S|OR13A1_ENST00000536058.1_Silent_p.S285S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCTTCCCTGCGCTGTAGCCAG	0.552													False	0	False	10:45799016	0	A	45799016	G	A	45799016	2	1	88	1	0	0	0	0	0	0	0	1	11001	1078	38	1		1	OR13A1	10	45799016	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1657373	45799016	89735731	10567	18279											
OR13A1	79290	broad.mit.edu	37	chr10	45799323	45799323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggccacagaaatccaagCgcagcatcagccccgtgtgg	13	13	1	1	rs116633831	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45799323C>T	ENST00000553795.1	-	4	856	c.548G>A	c.(547-549)cGc>cAc	p.R183H	OR13A1_ENST00000374401.2_Missense_Mutation_p.R183H|OR13A1_ENST00000536058.1_Missense_Mutation_p.R183H	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GAAATCCAAGCGCAGCATCAG	0.592													False	0	False	10:45799323	0	T	45799323	C	T	45799323	3	4	88	1	0	0	0	0	1	0	0	0	11001	768	27	1	442	1	OR13A1	10	45799323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	307	45799323	89735424	10568	18280											
ALOX5	240	broad.mit.edu	37	chr10	45939272	45939272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgccgcggtcaacttcgGccaggtaggcagggccgggc	17	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45939272G>A	ENST00000374391.2	+	12	1723	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D	ALOX5_ENST00000542434.1_Missense_Mutation_p.G557D	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	557	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GTCAACTTCGGCCAGGTAGGC	0.697													False	0	False	10:45939272	0	A	45939272	G	A	45939272	3	1	88	1	0	0	0	0	1	0	0	0	540	1203	42	2	1716	2	ALOX5	10	45939272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139949	45939272	89595475	10569	18281											
FAM21C	253725	broad.mit.edu	37	chr10	46264949	46264949	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttagcatctgacagcaggtCtaaaggagaacccagggatt	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46264949C>T	ENST00000336378.4	+	20	2034	c.1916C>T	c.(1915-1917)tCt>tTt	p.S639F	FAM21C_ENST00000359860.4_Missense_Mutation_p.S583F|FAM21C_ENST00000540872.1_Missense_Mutation_p.S641F|FAM21C_ENST00000374362.2_Missense_Mutation_p.S641F|FAM21C_ENST00000537517.1_Missense_Mutation_p.S617F	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	641										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GACAGCAGGTCTAAAGGAGAA	0.463													False	0	False	10:46264949	0	T	46264949	C	T	46264949	3	4	88	1	0	0	0	0	1	0	0	0	5578	913	32	2	2000	2	FAM21C	10	46264949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325677	46264949	89269798	10570	18282											
AGAP4	119016	broad.mit.edu	37	chr10	46322028	46322028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttggatcgactgcagggCcatggccttgctctggctgg	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46322028C>T	ENST00000448048.2	-	7	1452	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T		NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	443	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						GACTGCAGGGCCATGGCCTTG	0.577													False	0	True	10:46322028	0	T	46322028	C	T	46322028	3	4	88	1	0	0	0	0	1	0	0	0	370	739	26	2	668	2	AGAP4	10	46322028	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57079	46322028	89212719	10571	18283											
SYT15	83849	broad.mit.edu	37	chr10	46962105	46962105	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaccactcggcccagctgCtggctctctgcaggggaggg	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46962105C>A	ENST00000374323.4	-	7	1877	c.1290G>T	c.(1288-1290)caG>caT	p.Q430H	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Missense_Mutation_p.Q377H|SYT15_ENST00000374325.3_Intron|SYT15_ENST00000503753.1_Intron			Q9BQS2	SYT15_HUMAN	synaptotagmin XV							integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGCCCAGCTGCTGGCTCTCTG	0.652													False	0	False	10:46962105	0	A	46962105	C	A	46962105	3	1	88	1	0	0	0	0	1	0	0	0	15553	796	28	3	192	3	SYT15	10	46962105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	640077	46962105	88572642	10572	18284											
GPRIN2	9721	broad.mit.edu	37	chr10	46999004	46999004	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggccagagctccgcaagActgccagcagcaccgtgtgg	14	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999004A>C	ENST00000374314.4	+	1	1079	c.124A>C	c.(124-126)Act>Cct	p.T42P	GPRIN2_ENST00000374317.1_Missense_Mutation_p.T42P			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	42										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCTCCGCAAGACTGCCAGCAG	0.701													False	0	False	10:46999004	0	C	46999004	A	C	46999004	3	2	88	1	0	0	0	0	1	0	0	0	6777	275	10	4	126	4	GPRIN2	10	46999004	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36899	46999004	88535743	10573	18285											
GPRIN2	9721	broad.mit.edu	37	chr10	46999231	46999231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctagtgctgctgctatGcagaggagccattcagacct	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999231G>A	ENST00000374314.4	+	1	1306	c.351G>A	c.(349-351)atG>atA	p.M117I	GPRIN2_ENST00000374317.1_Missense_Mutation_p.M117I			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	117										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTGCTGCTATGCAGAGGAGCC	0.647													False	0	False	10:46999231	0	A	46999231	G	A	46999231	3	1	88	1	0	0	0	0	1	0	0	0	6777	1319	46	2	353	2	GPRIN2	10	46999231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227	46999231	88535516	10574	18286											
GPRIN2	9721	broad.mit.edu	37	chr10	46999326	46999326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcagcccttggcagcaGccctgtccacagggctcagc	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999326G>A	ENST00000374314.4	+	1	1401	c.446G>A	c.(445-447)aGc>aAc	p.S149N	GPRIN2_ENST00000374317.1_Missense_Mutation_p.S149N			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	149										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTTGGCAGCAGCCCTGTCCAC	0.642													False	0	True	10:46999326	0	A	46999326	G	A	46999326	3	1	88	1	0	0	0	0	1	0	0	0	6777	971	34	2	448	2	GPRIN2	10	46999326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95	46999326	88535421	10575	18287											
GPRIN2	9721	broad.mit.edu	37	chr10	46999982	46999982	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtgttcccagaggtaactCtggggtccagcctggaggag	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999982C>A	ENST00000374314.4	+	1	2057	c.1102C>A	c.(1102-1104)Ctg>Atg	p.L368M	GPRIN2_ENST00000374317.1_Missense_Mutation_p.L368M			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	368								p.L368V(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGAGGTAACTCTGGGGTCCAG	0.667													False	0	False	10:46999982	0	A	46999982	C	A	46999982	3	1	88	1	0	0	0	0	1	0	0	0	6777	912	32	3	1104	3	GPRIN2	10	46999982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	656	46999982	88534765	10576	18288											
ANXA8L2	244	broad.mit.edu	37	chr10	47756730	47756730	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagtgccactcacctgctgaGaggtaccagggagggagggg	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:47756730G>A	ENST00000374277.5	+	8	766	c.644G>A	c.(643-645)aGa>aAa	p.R215K	AL603965.1_ENST00000335083.5_Intron|ANXA8L2_ENST00000340243.6_Missense_Mutation_p.R196K|ANXA8L2_ENST00000449464.2_3'UTR|ANXA8L2_ENST00000538825.1_Missense_Mutation_p.R153K	NM_001630.2	NP_001621.2	Q5VT79	AXA82_HUMAN	annexin A8-like 2	215							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|pancreas(1)	2						CACCTGCTGAGAGGTACCAGG	0.587													False	0	False	10:47756730	0	A	47756730	G	A	47756730	3	1	88	1	0	0	0	0	1	0	0	0	726	942	33	2	674	2	ANXA8L2	10	47756730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	756748	47756730	87778017	10577	18289											
ZNF488	118738	broad.mit.edu	37	chr10	48371057	48371057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccagcagagaggcctgaGctaacctcagtcttccctgc	10	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48371057G>A	ENST00000395702.2	+	2	752	c.525G>A	c.(523-525)gaG>gaA	p.E175E	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Silent_p.E68E			Q96MN9	ZN488_HUMAN	zinc finger protein 488	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGAGGCCTGAGCTAACCTCAG	0.567													False	0	False	10:48371057	0	A	48371057	G	A	48371057	2	1	88	1	0	0	0	0	0	0	0	1	18023	962	34	2		2	ZNF488	10	48371057	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	614327	48371057	87163690	10578	18290											
RBP3	5949	broad.mit.edu	37	chr10	48389870	48389870	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcgtgtagtagtccttcagGacctcctggaggcagtggac	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48389870G>T	ENST00000224600.4	-	1	1121	c.1008C>A	c.(1006-1008)gtC>gtA	p.V336V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	336	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGTCCTTCAGGACCTCCTGGA	0.642													False	0	False	10:48389870	0	T	48389870	G	T	48389870	2	4	88	1	0	0	0	0	0	0	0	1	13236	1161	41	3		3	RBP3	10	48389870	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18813	48389870	87144877	10579	18291											
RBP3	5949	broad.mit.edu	37	chr10	48390460	48390460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgctcagcacctcctggcCcgggacgctgtccacccgca	10	19	1	0	rs34932849	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48390460C>T	ENST00000224600.4	-	1	531	c.418G>A	c.(418-420)Ggc>Agc	p.G140S		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	140	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCTCCTGGCCCGGGACGCTG	0.637													False	0	True	10:48390460	0	T	48390460	C	T	48390460	3	4	88	1	0	0	0	0	1	0	0	0	13236	623	22	2	3341	2	RBP3	10	48390460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	590	48390460	87144287	10580	18292											
GDF2	2658	broad.mit.edu	37	chr10	48413908	48413908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggctgccagccccggcGctccttttccgcctggctaa	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48413908G>A	ENST00000249598.1	-	2	1119	c.960C>T	c.(958-960)agC>agT	p.S320S		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	320					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CAGCCCCGGCGCTCCTTTTCC	0.612													False	0	False	10:48413908	0	A	48413908	G	A	48413908	2	1	88	1	0	0	0	0	0	0	0	1	6359	1078	38	1		1	GDF2	10	48413908	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23448	48413908	87120839	10581	18293											
GDF10	2662	broad.mit.edu	37	chr10	48428790	48428790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcccactgcttcctccGggctttctgcatcgtcttct	6	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48428790G>A	ENST00000224605.2	-	2	1361	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	366					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TGCTTCCTCCGGGCTTTCTGC	0.597													False	0	True	10:48428790	0	A	48428790	G	A	48428790	3	1	88	1	0	0	0	0	1	0	0	0	6356	1115	39	1	348	1	GDF10	10	48428790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14882	48428790	87105957	10582	18294											
GDF10	2662	broad.mit.edu	37	chr10	48429256	48429256	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccatcccggcgggccgccttGacgatgggggagatgtcctt	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48429256G>A	ENST00000224605.2	-	2	895	c.630C>T	c.(628-630)gtC>gtT	p.V210V		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	210					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGGCCGCCTTGACGATGGGGG	0.726													False	0	False	10:48429256	0	A	48429256	G	A	48429256	2	1	88	1	0	0	0	0	0	0	0	1	6356	1277	45	2		2	GDF10	10	48429256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	466	48429256	87105491	10583	18295											
FRMPD2	143162	broad.mit.edu	37	chr10	49371699	49371699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggtgaattctttgtcagCtgagagttcaggtgtctatt	11	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49371699C>A	ENST00000374201.3	-	28	3855	c.3553G>T	c.(3553-3555)Gct>Tct	p.A1185S	FRMPD2_ENST00000474573.1_Missense_Mutation_p.A137S|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1153S|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1160S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1185					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.A1185T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTTTGTCAGCTGAGAGTTCA	0.458													False	0	False	10:49371699	0	A	49371699	C	A	49371699	3	1	88	1	0	0	0	0	1	0	0	0	6100	797	28	3	384	3	FRMPD2	10	49371699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	942443	49371699	86163048	10584	18296											
FRMPD2	143162	broad.mit.edu	37	chr10	49446033	49446033	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagccttattttgcttaCcttgctccttctttgcagaa	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49446033C>T	ENST00000374201.3	-	8	1224		c.e8+1		FRMPD2_ENST00000407470.4_Splice_Site|FRMPD2_ENST00000305531.3_Splice_Site	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATTTTGCTTACCTTGCTCCTT	0.577													False	0	False	10:49446033	0	T	49446033	C	T	49446033	5	4	88	1	0	0	0	0	0	0	1	0	6100	521	18	2	3095	2	FRMPD2	10	49446033	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74334	49446033	86088714	10585	18297											
MAPK8	5599	broad.mit.edu	37	chr10	49612896	49612896	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgaatttcttattacagcGcagcttatgatgccattctt	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49612896G>A	ENST00000374189.1	+	3	305	c.124G>A	c.(124-126)Gca>Aca	p.A42T	MAPK8_ENST00000395611.3_Splice_Site_p.A42T|MAPK8_ENST00000374182.3_Splice_Site_p.A42T|MAPK8_ENST00000360332.3_Splice_Site_p.A42T|MAPK8_ENST00000374174.1_Splice_Site_p.A42T			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	42	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TTATTACAGCGCAGCTTATGA	0.373													False	0	False	10:49612896	0	A	49612896	G	A	49612896	5	1	88	1	0	0	0	0	0	0	1	0	9350	1101	38	1	130	1	MAPK8	10	49612896	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166863	49612896	85921851	10586	18298											
MAPK8	5599	broad.mit.edu	37	chr10	49639287	49639287	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaaccaagaatggagTtatacgggggcagccctctc	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49639287T>G	ENST00000374189.1	+	11	1293	c.1112T>G	c.(1111-1113)gTt>gGt	p.V371G	MAPK8_ENST00000395611.3_Missense_Mutation_p.V295G|MAPK8_ENST00000374182.3_Missense_Mutation_p.V371G|MAPK8_ENST00000360332.3_Missense_Mutation_p.V371G|MAPK8_ENST00000459755.1_3'UTR			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	371					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AAGAATGGAGTTATACGGGGG	0.373													False	0	False	10:49639287	0	G	49639287	T	G	49639287	3	3	88	1	0	0	0	0	1	0	0	0	9350	1725	60	4	1226	4	MAPK8	10	49639287	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26391	49639287	85895460	10587	18299											
LRRC18	474354	broad.mit.edu	37	chr10	50122110	50122110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttgctcaagtcaaggcGctttttcccatcaaaagtga	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50122110G>A	ENST00000374160.3	-	1	167	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	31			R -> H (in dbSNP:rs17772611).			cytoplasm		p.R31C(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AAGTCAAGGCGCTTTTTCCCA	0.478													False	0	False	10:50122110	0	A	50122110	G	A	50122110	3	1	88	1	0	0	0	0	1	0	0	0	9036	1087	38	1	702	1	LRRC18	10	50122110	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	482823	50122110	85412637	10588	18300											
C10orf71	118461	broad.mit.edu	37	chr10	50531186	50531186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgacagtcaggagggtgcCcgctgaagtttccaacaccc	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50531186C>T	ENST00000374144.3	+	3	884	c.596C>T	c.(595-597)cCc>cTc	p.P199L	C10orf71_ENST00000323868.4_Missense_Mutation_p.P199L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	199										endometrium(1)	1						AGGAGGGTGCCCGCTGAAGTT	0.532													False	0	True	10:50531186	0	T	50531186	C	T	50531186	3	4	88	1	0	0	0	0	1	0	0	0	1622	623	22	2	598	2	C10orf71	10	50531186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	409076	50531186	85003561	10589	18301											
DRGX	644168	broad.mit.edu	37	chr10	50574348	50574348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggccacgctggccgtgCggttactctggcagccatag	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50574348C>T	ENST00000374139.2	-	6	615	c.605G>A	c.(604-606)cGc>cAc	p.R202H	DRGX_ENST00000434016.1_Missense_Mutation_p.R207H			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	207					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCTGGCCGTGCGGTTACTCTG	0.637													False	0	False	10:50574348	0	T	50574348	C	T	50574348	3	4	88	1	0	0	0	0	1	0	0	0	4793	768	27	1	189	1	DRGX	10	50574348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43162	50574348	84960399	10590	18302											
DRGX	644168	broad.mit.edu	37	chr10	50599296	50599296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccccgaagagtgattgccaaAggttgcagtgcctaccaaga	11	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50599296A>T	ENST00000374139.2	-	2	56	c.46T>A	c.(46-48)Ttt>Att	p.F16I	DRGX_ENST00000434016.1_Missense_Mutation_p.F21I			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	21					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						TGATTGCCAAAGGTTGCAGTG	0.567													False	0	True	10:50599296	0	T	50599296	A	T	50599296	3	4	88	1	0	0	0	0	1	0	0	0	4793	72	3	5	764	5	DRGX	10	50599296	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24948	50599296	84935451	10591	18303											
ERCC6	2074	broad.mit.edu	37	chr10	50678905	50678905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatccttctttttagatggCatttgggtgtctgaacatct	9	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50678905C>T	ENST00000355832.5	-	18	3179	c.3101G>A	c.(3100-3102)tGc>tAc	p.C1034Y	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.C404Y	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1034					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTTAGATGGCATTTGGGTGT	0.368								Direct reversal of damage;Nucleotide excision repair (NER)					False	0	False	10:50678905	0	T	50678905	C	T	50678905	3	4	88	1	0	0	0	0	1	0	0	0	5249	710	25	2	1396	2	ERCC6	10	50678905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79609	50678905	84855842	10592	18304											
SLC18A3	6572	broad.mit.edu	37	chr10	50819143	50819143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgctaccctacggagagCgaagacgtgaagatcggggt	14	12	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50819143C>T	ENST00000374115.3	+	1	797	c.357C>T	c.(355-357)agC>agT	p.S119S	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	119					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTACGGAGAGCGAAGACGTGA	0.652													False	0	False	10:50819143	0	T	50819143	C	T	50819143	2	4	88	1	0	0	0	0	0	0	0	1	14508	767	27	1		1	SLC18A3	10	50819143	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140238	50819143	84715604	10593	18305											
SLC18A3	6572	broad.mit.edu	37	chr10	50819427	50819427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccggagcgcagtcgtgcacTgggcgtggcgctggccttca	17	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50819427T>C	ENST00000374115.3	+	1	1081	c.641T>C	c.(640-642)cTg>cCg	p.L214P	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	214					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						AGTCGTGCACTGGGCGTGGCG	0.667													False	0	True	10:50819427	0	C	50819427	T	C	50819427	3	2	88	1	0	0	0	0	1	0	0	0	14508	1580	55	4	643	4	SLC18A3	10	50819427	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	284	50819427	84715320	10594	18306											
SLC18A3	6572	broad.mit.edu	37	chr10	50820002	50820002	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcactgctgcccacgctcGccttcctggtggacgtgcgc	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50820002G>A	ENST00000374115.3	+	1	1656	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	406					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCCACGCTCGCCTTCCTGGT	0.637													False	0	False	10:50820002	0	A	50820002	G	A	50820002	3	1	88	1	0	0	0	0	1	0	0	0	14508	1087	38	1	1218	1	SLC18A3	10	50820002	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	575	50820002	84714745	10595	18307											
CHAT	1103	broad.mit.edu	37	chr10	50835752	50835752	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatggcttccaacgaggaCgagcgtttgcctccaattgg	11	10	0	0	rs145203976	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50835752C>T	ENST00000395562.2	+	8	1255	c.786C>T	c.(784-786)gaC>gaT	p.D262D	CHAT_ENST00000395559.2_Silent_p.D226D|CHAT_ENST00000455728.2_Silent_p.D226D|CHAT_ENST00000337653.2_Silent_p.D344D|CHAT_ENST00000351556.3_Silent_p.D226D|CHAT_ENST00000339797.1_Silent_p.D226D	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	344				GQ -> PE (in Ref. 1; AAA14245).	neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCAACGAGGACGAGCGTTTGC	0.552													False	0	False	10:50835752	0	T	50835752	C	T	50835752	2	4	88	1	0	0	0	0	0	0	0	1	3336	535	19	1		1	CHAT	10	50835752	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15750	50835752	84698995	10596	18308											
CHAT	1103	broad.mit.edu	37	chr10	50854680	50854680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttcacggcggaggctacaGcaagaacggggccaatcgct	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50854680G>T	ENST00000395562.2	+	9	1464	c.995G>T	c.(994-996)aGc>aTc	p.S332I	CHAT_ENST00000395559.2_Missense_Mutation_p.S296I|CHAT_ENST00000455728.2_Missense_Mutation_p.S296I|CHAT_ENST00000337653.2_Missense_Mutation_p.S414I|CHAT_ENST00000351556.3_Missense_Mutation_p.S296I|CHAT_ENST00000339797.1_Missense_Mutation_p.S296I	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	414					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGAGGCTACAGCAAGAACGGG	0.632													False	0	False	10:50854680	0	T	50854680	G	T	50854680	3	4	88	1	0	0	0	0	1	0	0	0	3336	971	34	3	1315	3	CHAT	10	50854680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18928	50854680	84680067	10597	18309											
CHAT	1103	broad.mit.edu	37	chr10	50860033	50860033	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgccttcatccaggtggccCtccagctggccttctacagg	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50860033C>A	ENST00000395562.2	+	12	1838	c.1369C>A	c.(1369-1371)Ctc>Atc	p.L457I	CHAT_ENST00000395559.2_Missense_Mutation_p.L421I|CHAT_ENST00000455728.2_Missense_Mutation_p.L421I|CHAT_ENST00000337653.2_Missense_Mutation_p.L539I|CHAT_ENST00000351556.3_Missense_Mutation_p.L421I|CHAT_ENST00000339797.1_Missense_Mutation_p.L421I	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	539					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCAGGTGGCCCTCCAGCTGGC	0.488													False	0	True	10:50860033	0	A	50860033	C	A	50860033	3	1	88	1	0	0	0	0	1	0	0	0	3336	681	24	3	1701	3	CHAT	10	50860033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5353	50860033	84674714	10598	18310											
OGDHL	55753	broad.mit.edu	37	chr10	50955097	50955097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgccctgggcatctccaCggtagaactgctctgccttt	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50955097C>T	ENST00000374103.4	-	9	1230	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	OGDHL_ENST00000432695.1_Missense_Mutation_p.R173H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R325H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	382					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGCATCTCCACGGTAGAACTG	0.642													False	0	False	10:50955097	0	T	50955097	C	T	50955097	3	4	88	1	0	0	0	0	1	0	0	0	10908	536	19	1	1947	1	OGDHL	10	50955097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95064	50955097	84579650	10599	18311											
AGAP7	653268	broad.mit.edu	37	chr10	51465371	51465371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggttgagcttggggatgGtggtgctggagatactgggg	22	4	0	2	rs77023418	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51465371G>A	ENST00000374095.5	-	7	1210	c.1085C>T	c.(1084-1086)aCc>aTc	p.T362I		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	362	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTGGGGATGGTGGTGCTGGA	0.522													False	0	False	10:51465371	0	A	51465371	G	A	51465371	3	1	88	1	0	0	0	0	1	0	0	0	373	1261	44	2	910	2	AGAP7	10	51465371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	510274	51465371	84069376	10600	18312											
AGAP7	653268	broad.mit.edu	37	chr10	51465483	51465483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtgcaggccaatgtggCtagggatggccactttcctg	16	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51465483C>T	ENST00000374095.5	-	7	1098	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	325	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GCCAATGTGGCTAGGGATGGC	0.463													False	0	False	10:51465483	0	T	51465483	C	T	51465483	3	4	88	1	0	0	0	0	1	0	0	0	373	797	28	2	1022	2	AGAP7	10	51465483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	51465483	84069264	10601	18313											
NCOA4	8031	broad.mit.edu	37	chr10	51584652	51584652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatttcttcaataatgtcGggggaaacctaaagggctta	10	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51584652G>A	ENST00000452682.1	+	9	1051	c.799G>A	c.(799-801)Ggg>Agg	p.G267R	NCOA4_ENST00000374087.4_Missense_Mutation_p.G251R|NCOA4_ENST00000443446.1_Missense_Mutation_p.G251R|NCOA4_ENST00000430396.2_Missense_Mutation_p.G151R|NCOA4_ENST00000374082.1_Missense_Mutation_p.G251R|NCOA4_ENST00000344348.6_Missense_Mutation_p.G251R|NCOA4_ENST00000438493.1_Missense_Mutation_p.G267R|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000414907.2_Missense_Mutation_p.G85R	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	251					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	p.G267W(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CAATAATGTCGGGGGAAACCT	0.388			T	RET	papillary thyroid								False	0	True	10:51584652	0	A	51584652	G	A	51584652	3	1	88	1	0	0	0	0	1	0	0	0	10299	1116	39	1	829	1	NCOA4	10	51584652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119169	51584652	83950095	10602	18314											
AGAP6	414189	broad.mit.edu	37	chr10	51748543	51748543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttgaccagcagcaggggtCggtgtgtccctctgaatctg	14	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51748543C>T	ENST00000374056.4	+	1	466	c.68C>T	c.(67-69)tCg>tTg	p.S23L	AGAP6_ENST00000412531.3_Missense_Mutation_p.S23L			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	23					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CAGCAGGGGTCGGTGTGTCCC	0.607													False	0	False	10:51748543	0	T	51748543	C	T	51748543	3	4	88	1	0	0	0	0	1	0	0	0	372	893	31	1	70	1	AGAP6	10	51748543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163891	51748543	83786204	10603	18315											
AGAP6	414189	broad.mit.edu	37	chr10	51768812	51768812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatacgtcaccctgtgttcCaatggcatgctcacctatta	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51768812C>T	ENST00000374056.4	+	7	1256	c.858C>T	c.(856-858)tcC>tcT	p.S286S	AGAP6_ENST00000412531.3_Silent_p.S309S			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	309					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S309S(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CCCTGTGTTCCAATGGCATGC	0.423													False	0	False	10:51768812	0	T	51768812	C	T	51768812	2	4	88	1	0	0	0	0	0	0	0	1	372	581	21	2		2	AGAP6	10	51768812	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20269	51768812	83765935	10604	18316											
SGMS1	259230	broad.mit.edu	37	chr10	52103414	52103414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtactcgttcgtggacgaccGagatcatcactgtggtgaga	13	9	2	2	rs141885016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52103414G>A	ENST00000361781.2	-	7	1420	c.461C>T	c.(460-462)tCg>tTg	p.S154L	SGMS1_ENST00000361543.2_Missense_Mutation_p.S154L|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	160					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GTGGACGACCGAGATCATCAC	0.507													False	0	False	10:52103414	0	A	52103414	G	A	52103414	3	1	88	1	0	0	0	0	1	0	0	0	14295	1059	37	1	800	1	SGMS1	10	52103414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	334602	52103414	83431333	10605	18317											
A1CF	29974	broad.mit.edu	37	chr10	52595854	52595854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtagcagtttcctcctcGccatggcagctgctcgatga	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52595854G>A	ENST00000374001.2	-	5	723	c.584C>T	c.(583-585)gCg>gTg	p.A195V	A1CF_ENST00000373997.3_Missense_Mutation_p.A195V|A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000373993.1_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000395489.2_Missense_Mutation_p.A188V			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor		RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.A203V(2)|p.A195V(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCCTCCTCGCCATGGCAGC	0.488													False	0	False	10:52595854	0	A	52595854	G	A	52595854	3	1	88	1	0	0	0	0	1	0	0	0	2	1087	38	1	1232	1	A1CF	10	52595854	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	492440	52595854	82938893	10606	18318											
A1CF	29974	broad.mit.edu	37	chr10	52595869	52595869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctcgccatggcagctgctCgatgactctcatactccacg	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52595869C>T	ENST00000374001.2	-	5	708	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	A1CF_ENST00000373997.3_Missense_Mutation_p.R190Q|A1CF_ENST00000282641.2_Missense_Mutation_p.R190Q|A1CF_ENST00000395495.1_Missense_Mutation_p.R190Q|A1CF_ENST00000373993.1_Missense_Mutation_p.R190Q|A1CF_ENST00000373995.3_Missense_Mutation_p.R198Q|A1CF_ENST00000395489.2_Missense_Mutation_p.R183Q			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor		RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGCAGCTGCTCGATGACTCTC	0.498													False	0	False	10:52595869	0	T	52595869	C	T	52595869	3	4	88	1	0	0	0	0	1	0	0	0	2	884	31	1	1247	1	A1CF	10	52595869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	52595869	82938878	10607	18319											
PCDH15	65217	broad.mit.edu	37	chr10	55582479	55582479	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttggcaaagtggagaatgaGaagtgaggcctgggaaagca	17	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55582479G>T	ENST00000361849.3	-	34	5407	c.5013C>A	c.(5011-5013)ttC>ttA	p.F1671L	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.F1646L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.F1669L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.F1629L|PCDH15_ENST00000437009.1_Missense_Mutation_p.F1600L|PCDH15_ENST00000395430.1_Missense_Mutation_p.F1666L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395442.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1669					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGAGAATGAGAAGTGAGGCC	0.418										HNSCC(58;0.16)			False	0	False	10:55582479	0	T	55582479	G	T	55582479	3	4	88	1	0	0	0	0	1	0	0	0	11579	933	33	3	2470	3	PCDH15	10	55582479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2986610	55582479	79952268	10608	18320											
PCDH15	65217	broad.mit.edu	37	chr10	55587172	55587172	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cattgagctgtctccaagttCttcatagagatgcgcacctg	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55587172C>T	ENST00000373965.2	-	33	4763	c.4369G>A	c.(4369-4371)Gaa>Aaa	p.E1457K	PCDH15_ENST00000395433.1_Missense_Mutation_p.E1425K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1450K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E1061K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1450K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1410K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1379K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1447K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1450K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1452K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1457K|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1450					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTCCAAGTTCTTCATAGAGA	0.552										HNSCC(58;0.16)			False	0	False	10:55587172	0	T	55587172	C	T	55587172	3	4	88	1	0	0	0	0	1	0	0	0	11579	922	32	2	3146	2	PCDH15	10	55587172	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4693	55587172	79947575	10609	18321											
PCDH15	65217	broad.mit.edu	37	chr10	55600201	55600201	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atgccggcgagctccaatggActccactacgaccttggcac	10	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55600201A>T	ENST00000373965.2	-	30	4277	c.3883T>A	c.(3883-3885)Tcc>Acc	p.S1295T	PCDH15_ENST00000395433.1_Missense_Mutation_p.S1266T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1288T|PCDH15_ENST00000409834.1_Missense_Mutation_p.S899T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1288T|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1251T|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1217T|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1288T|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1293T|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1295T|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1288					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTCCAATGGACTCCACTACG	0.458										HNSCC(58;0.16)			False	0	False	10:55600201	0	T	55600201	A	T	55600201	3	4	88	1	0	0	0	0	1	0	0	0	11579	275	10	5	3644	5	PCDH15	10	55600201	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13029	55600201	79934546	10610	18322											
PCDH15	65217	broad.mit.edu	37	chr10	55600233	55600233	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcaccaggaatttgtTcctgaacatagcgatccaag	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55600233T>G	ENST00000373965.2	-	30	4245	c.3851A>C	c.(3850-3852)gAa>gCa	p.E1284A	PCDH15_ENST00000395433.1_Missense_Mutation_p.E1255A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1277A|PCDH15_ENST00000409834.1_Missense_Mutation_p.E888A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1277A|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1240A|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1206A|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1277A|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1282A|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1284A|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1277					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGGAATTTGTTCCTGAACATA	0.428										HNSCC(58;0.16)			False	0	False	10:55600233	0	G	55600233	T	G	55600233	3	3	88	1	0	0	0	0	1	0	0	0	11579	1783	62	4	3676	4	PCDH15	10	55600233	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32	55600233	79934514	10611	18323											
PCDH15	65217	broad.mit.edu	37	chr10	55626499	55626499	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatattatggaagagcataGcagttttgataagccctgta	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55626499G>T	ENST00000373965.2	-	28	4035	c.3641C>A	c.(3640-3642)gCt>gAt	p.A1214D	PCDH15_ENST00000395433.1_Missense_Mutation_p.A1185D|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1207D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A818D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1207D|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1170D|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1136D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1207D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1212D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1214D|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1207	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAAGAGCATAGCAGTTTTGAT	0.413										HNSCC(58;0.16)			False	0	False	10:55626499	0	T	55626499	G	T	55626499	3	4	88	1	0	0	0	0	1	0	0	0	11579	971	34	3	3894	3	PCDH15	10	55626499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26266	55626499	79908248	10612	18324											
PCDH15	65217	broad.mit.edu	37	chr10	55719536	55719536	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggatctcaccaggatgtaaGacaagaatcttcactgtggc	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55719536G>T	ENST00000373965.2	-	24	3493	c.3099C>A	c.(3097-3099)gtC>gtA	p.V1033V	PCDH15_ENST00000395433.1_Silent_p.V1004V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Silent_p.V1026V|PCDH15_ENST00000409834.1_Silent_p.V637V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Silent_p.V1026V|PCDH15_ENST00000395432.2_Silent_p.V989V|PCDH15_ENST00000437009.1_Silent_p.V955V|PCDH15_ENST00000395430.1_Silent_p.V1026V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Silent_p.V1026V|PCDH15_ENST00000414778.1_Silent_p.V1031V|PCDH15_ENST00000395445.1_Silent_p.V1033V|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1026	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.V1031V(1)|p.V1026V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGATGTAAGACAAGAATCT	0.398										HNSCC(58;0.16)			False	0	False	10:55719536	0	T	55719536	G	T	55719536	2	4	88	1	0	0	0	0	0	0	0	1	11579	929	33	3		3	PCDH15	10	55719536	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93037	55719536	79815211	10613	18325											
PCDH15	65217	broad.mit.edu	37	chr10	55826621	55826621	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcattgacatctgtcaccaCtatgtttactgtggcagttg	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55826621C>A	ENST00000373965.2	-	19	2531	c.2137G>T	c.(2137-2139)Gtg>Ttg	p.V713L	PCDH15_ENST00000395433.1_Missense_Mutation_p.V684L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V684L|PCDH15_ENST00000320301.6_Missense_Mutation_p.V706L|PCDH15_ENST00000409834.1_Missense_Mutation_p.V317L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.V706L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V669L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V635L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V706L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V706L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.V706L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V711L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V713L|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	706	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTGTCACCACTATGTTTACT	0.383										HNSCC(58;0.16)			False	0	False	10:55826621	0	A	55826621	C	A	55826621	3	1	88	1	0	0	0	0	1	0	0	0	11579	565	20	3	5434	3	PCDH15	10	55826621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107085	55826621	79708126	10614	18326											
PCDH15	65217	broad.mit.edu	37	chr10	55892654	55892654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtagatttaataaaacaGcaccaaccctcatggcttca	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55892654G>T	ENST00000373965.2	-	16	2313	c.1919C>A	c.(1918-1920)gCt>gAt	p.A640D	PCDH15_ENST00000395433.1_Missense_Mutation_p.A611D|PCDH15_ENST00000373957.3_Missense_Mutation_p.A611D|PCDH15_ENST00000320301.6_Missense_Mutation_p.A633D|PCDH15_ENST00000409834.1_Missense_Mutation_p.A244D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A633D|PCDH15_ENST00000395432.2_Missense_Mutation_p.A596D|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395446.1_Missense_Mutation_p.A633D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A633D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A638D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A640D|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	633	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAATAAAACAGCACCAACCCT	0.388										HNSCC(58;0.16)			False	0	False	10:55892654	0	T	55892654	G	T	55892654	3	4	88	1	0	0	0	0	1	0	0	0	11579	971	34	3	5664	3	PCDH15	10	55892654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66033	55892654	79642093	10615	18327											
PCDH15	65217	broad.mit.edu	37	chr10	55943355	55943356	+	Splice_Site	INS	-	-	ACATGTGCATTA													accatcaaatgctgttatctINSttgggaggagaaaaatacac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55943355_55943356insACATGTGCATTA	ENST00000373965.2	-	14	1856		c.e14-2		PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCTGTTATCTTTGGGAGGAGA	0.366										HNSCC(58;0.16)			False	0	True	10:55943355	0	ACATGTGCATTA	55943356	-	ACATGTGCATTA	55943355	8	5	88	1	0	1	1	0	0	0	1	0	11579	1623	56	0	6131	0	PCDH15	10	55943355	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	50701	55943355	79591392	10616	18328											
PCDH15	65217	broad.mit.edu	37	chr10	56077098	56077098	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcacgagtgtttggcacaAggacacaaggaagaaacatt	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56077098A>C	ENST00000373965.2	-	8	1203	c.809T>G	c.(808-810)cTt>cGt	p.L270R	PCDH15_ENST00000395433.1_Missense_Mutation_p.L248R|PCDH15_ENST00000373957.3_Missense_Mutation_p.L248R|PCDH15_ENST00000320301.6_Missense_Mutation_p.L270R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.L270R|PCDH15_ENST00000361849.3_Missense_Mutation_p.L270R|PCDH15_ENST00000395432.2_Missense_Mutation_p.L233R|PCDH15_ENST00000437009.1_Missense_Mutation_p.L270R|PCDH15_ENST00000373955.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395430.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395446.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395438.1_Missense_Mutation_p.L270R|PCDH15_ENST00000414778.1_Missense_Mutation_p.L275R|PCDH15_ENST00000395445.1_Missense_Mutation_p.L270R|PCDH15_ENST00000395442.1_Missense_Mutation_p.L270R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	270					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTGGCACAAGGACACAAGG	0.463										HNSCC(58;0.16)			False	0	False	10:56077098	0	C	56077098	A	C	56077098	3	2	88	1	0	0	0	0	1	0	0	0	11579	72	3	4	6806	4	PCDH15	10	56077098	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	133743	56077098	79457649	10617	18329											
PCDH15	65217	broad.mit.edu	37	chr10	56128916	56128916	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagtagctttcatgcttgaaAgtgggtgagttgtcattcct	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56128916A>T	ENST00000373965.2	-	5	832	c.438T>A	c.(436-438)acT>acA	p.T146T	PCDH15_ENST00000395433.1_Silent_p.T124T|PCDH15_ENST00000373957.3_Silent_p.T124T|PCDH15_ENST00000320301.6_Silent_p.T146T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Silent_p.T146T|PCDH15_ENST00000361849.3_Silent_p.T146T|PCDH15_ENST00000395432.2_Silent_p.T146T|PCDH15_ENST00000437009.1_Silent_p.T146T|PCDH15_ENST00000373955.1_Silent_p.T146T|PCDH15_ENST00000395430.1_Silent_p.T146T|PCDH15_ENST00000395446.1_Silent_p.T146T|PCDH15_ENST00000395438.1_Silent_p.T146T|PCDH15_ENST00000414778.1_Silent_p.T151T|PCDH15_ENST00000395445.1_Silent_p.T146T|PCDH15_ENST00000395442.1_Silent_p.T146T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	146	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATGCTTGAAAGTGGGTGAGT	0.403										HNSCC(58;0.16)			False	0	True	10:56128916	0	T	56128916	A	T	56128916	2	4	88	1	0	0	0	0	0	0	0	1	11579	59	3	5		5	PCDH15	10	56128916	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51818	56128916	79405831	10618	18330											
PCDH15	65217	broad.mit.edu	37	chr10	56129000	56129000	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttttttgttgatgcactgGacctgcaccacaatggagtg	10	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56129000G>A	ENST00000373965.2	-	5	748	c.354C>T	c.(352-354)gtC>gtT	p.V118V	PCDH15_ENST00000395433.1_Silent_p.V96V|PCDH15_ENST00000373957.3_Silent_p.V96V|PCDH15_ENST00000320301.6_Silent_p.V118V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Silent_p.V118V|PCDH15_ENST00000361849.3_Silent_p.V118V|PCDH15_ENST00000395432.2_Silent_p.V118V|PCDH15_ENST00000437009.1_Silent_p.V118V|PCDH15_ENST00000373955.1_Silent_p.V118V|PCDH15_ENST00000395430.1_Silent_p.V118V|PCDH15_ENST00000395446.1_Silent_p.V118V|PCDH15_ENST00000395438.1_Silent_p.V118V|PCDH15_ENST00000414778.1_Silent_p.V123V|PCDH15_ENST00000395445.1_Silent_p.V118V|PCDH15_ENST00000395442.1_Silent_p.V118V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	118	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGATGCACTGGACCTGCACCA	0.398										HNSCC(58;0.16)			False	0	False	10:56129000	0	A	56129000	G	A	56129000	2	1	88	1	0	0	0	0	0	0	0	1	11579	1161	41	2		2	PCDH15	10	56129000	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84	56129000	79405747	10619	18331											
ZWINT	0	broad.mit.edu	37	chr10	58118426	58118426	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattctctgcctcagcctcaGcctcagggaacaacagctta	8	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:58118426G>T	ENST00000373944.3	-	7	721	c.683C>A	c.(682-684)gCt>gAt	p.A228D	ZWINT_ENST00000361148.6_Missense_Mutation_p.A181D|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.A228D|ZWINT_ENST00000318387.2_Missense_Mutation_p.A108D			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	228					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CTCAGCCTCAGCCTCAGGGAA	0.537													False	0	True	10:58118426	0	T	58118426	G	T	58118426	3	4	88	1	0	0	0	0	1	0	0	0	18331	971	34	3	158	3	ZWINT	10	58118426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1989426	58118426	77416321	10620	18332											
ZWINT	0	broad.mit.edu	37	chr10	58118706	58118706	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccagatgctgcagatgcttCtcctgccaggagtgagcatg	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:58118706C>T	ENST00000373944.3	-	6	521	c.483G>A	c.(481-483)gaG>gaA	p.E161E	ZWINT_ENST00000361148.6_Silent_p.E161E|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Silent_p.E161E|ZWINT_ENST00000318387.2_Silent_p.E41E			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	161					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GCAGATGCTTCTCCTGCCAGG	0.542													False	0	False	10:58118706	0	T	58118706	C	T	58118706	2	4	88	1	0	0	0	0	0	0	0	1	18331	912	32	2		2	ZWINT	10	58118706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280	58118706	77416041	10621	18333											
UBE2D1	7321	broad.mit.edu	37	chr10	60121147	60121147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctcactgttcagctggacCtgtgggagatgactgtaagc	13	9	2	2	rs141191537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:60121147C>A	ENST00000373910.4	+	2	301	c.74C>A	c.(73-75)cCt>cAt	p.P25H		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	25					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TCAGCTGGACCTGTGGGAGAT	0.383													False	0	False	10:60121147	0	A	60121147	C	A	60121147	3	1	88	1	0	0	0	0	1	0	0	0	16932	681	24	3	80	3	UBE2D1	10	60121147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2002441	60121147	75413600	10622	18334											
BICC1	80114	broad.mit.edu	37	chr10	60588555	60588555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagaaagctttttgaatcGccaaatgcacgcacctcttt	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:60588555G>A	ENST00000373886.3	+	21	2833	c.2829G>A	c.(2827-2829)tcG>tcA	p.S943S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	943			S -> P (in dbSNP:rs4948550).		multicellular organismal development		RNA binding	p.S943S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTTTTGAATCGCCAAATGCAC	0.468													False	0	False	10:60588555	0	A	60588555	G	A	60588555	2	1	88	1	0	0	0	0	0	0	0	1	1432	1074	38	1		1	BICC1	10	60588555	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	467408	60588555	74946192	10623	18335											
CCDC6	8030	broad.mit.edu	37	chr10	61554264	61554264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgttcccatgtgctgcacGtgaagacccggggaattgta	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61554264G>A	ENST00000263102.6	-	8	1428	c.1197C>T	c.(1195-1197)caC>caT	p.H399H		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	399						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TGTGCTGCACGTGAAGACCCG	0.478			T	RET	NSCLC								False	0	False	10:61554264	0	A	61554264	G	A	61554264	2	1	88	1	0	0	0	0	0	0	0	1	2851	1136	40	1		1	CCDC6	10	61554264	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	965709	61554264	73980483	10624	18336											
CCDC6	8030	broad.mit.edu	37	chr10	61572421	61572421	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgagcagctctcagttgcttCttcagccgttccacttcatt	7	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61572421C>A	ENST00000263102.6	-	5	1050	c.819G>T	c.(817-819)aaG>aaT	p.K273N		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	273						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TCAGTTGCTTCTTCAGCCGTT	0.418			T	RET	NSCLC								False	0	False	10:61572421	0	A	61572421	C	A	61572421	3	1	88	1	0	0	0	0	1	0	0	0	2851	912	32	3	625	3	CCDC6	10	61572421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18157	61572421	73962326	10625	18337											
ANK3	288	broad.mit.edu	37	chr10	61832967	61832967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatctgtcctcagtaaagcGcatccacatggcatgttttg	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61832967G>A	ENST00000280772.2	-	37	7863	c.7672C>T	c.(7672-7674)Cgc>Tgc	p.R2558C	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAGTAAAGCGCATCCACATG	0.408													False	0	False	10:61832967	0	A	61832967	G	A	61832967	3	1	88	1	0	0	0	0	1	0	0	0	622	1087	38	1	5802	1	ANK3	10	61832967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260546	61832967	73701780	10626	18338											
ANK3	288	broad.mit.edu	37	chr10	61834648	61834648	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttgttgtctggcttcccgGatttcttccgaactaaattc	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61834648G>A	ENST00000280772.2	-	37	6182	c.5991C>T	c.(5989-5991)atC>atT	p.I1997I	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGCTTCCCGGATTTCTTCCG	0.448													False	0	False	10:61834648	0	A	61834648	G	A	61834648	2	1	88	1	0	0	0	0	0	0	0	1	622	1164	41	2		2	ANK3	10	61834648	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1681	61834648	73700099	10627	18339											
ANK3	288	broad.mit.edu	37	chr10	61846505	61846505	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattggatacaccttctccTgagggcgggggcaccggaat	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61846505T>C	ENST00000280772.2	-	30	3869	c.3678A>G	c.(3676-3678)tcA>tcG	p.S1226S	ANK3_ENST00000355288.2_Silent_p.S360S|ANK3_ENST00000373827.2_Silent_p.S1220S|ANK3_ENST00000503366.1_Silent_p.S1227S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CACCTTCTCCTGAGGGCGGGG	0.458													False	0	False	10:61846505	0	C	61846505	T	C	61846505	2	2	88	1	0	0	0	0	0	0	0	1	622	1567	55	4		4	ANK3	10	61846505	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11857	61846505	73688242	10628	18340											
ANK3	288	broad.mit.edu	37	chr10	61848050	61848050	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaccactgcaaaatacTgggggaaatctttcgtgata	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848050T>G	ENST00000280772.2	-	29	3586	c.3395A>C	c.(3394-3396)cAg>cCg	p.Q1132P	ANK3_ENST00000355288.2_Missense_Mutation_p.Q266P|ANK3_ENST00000373827.2_Missense_Mutation_p.Q1126P|ANK3_ENST00000503366.1_Missense_Mutation_p.Q1133P	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCAAAATACTGGGGGAAATC	0.443													False	0	True	10:61848050	0	G	61848050	T	G	61848050	3	3	88	1	0	0	0	0	1	0	0	0	622	1580	55	4	10111	4	ANK3	10	61848050	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1545	61848050	73686697	10629	18341											
ANK3	288	broad.mit.edu	37	chr10	61848065	61848065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatactgggggaaatctttcGtgataatcctgcagatacgc	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848065G>A	ENST00000280772.2	-	29	3571	c.3380C>T	c.(3379-3381)aCg>aTg	p.T1127M	ANK3_ENST00000355288.2_Missense_Mutation_p.T261M|ANK3_ENST00000373827.2_Missense_Mutation_p.T1121M|ANK3_ENST00000503366.1_Missense_Mutation_p.T1128M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAAATCTTTCGTGATAATCCT	0.433													False	0	False	10:61848065	0	A	61848065	G	A	61848065	3	1	88	1	0	0	0	0	1	0	0	0	622	1145	40	1	10126	1	ANK3	10	61848065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	61848065	73686682	10630	18342											
ANK3	288	broad.mit.edu	37	chr10	62023664	62023664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcgtgtcgtcttttcgggCcgcgatatgaagagctggga	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62023664C>T	ENST00000280772.2	-	6	819	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	ANK3_ENST00000373827.2_Missense_Mutation_p.A204T|ANK3_ENST00000503366.1_Missense_Mutation_p.A193T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTTTTCGGGCCGCGATATGA	0.542													False	0	True	10:62023664	0	T	62023664	C	T	62023664	3	4	88	1	0	0	0	0	1	0	0	0	622	739	26	2	12990	2	ANK3	10	62023664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175599	62023664	73511083	10631	18343											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648459	62648459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcgacactcaatatccGcccctggaaatctctgctct	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62648459G>A	ENST00000337910.5	-	6	1304	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R323W	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	323	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CTCAATATCCGCCCCTGGAAA	0.502													False	0	True	10:62648459	0	A	62648459	G	A	62648459	3	1	88	1	0	0	0	0	1	0	0	0	13412	1086	38	1	1147	1	RHOBTB1	10	62648459	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	624795	62648459	72886288	10632	18344											
RHOBTB1	9886	broad.mit.edu	37	chr10	62670660	62670660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacctgccatatgcaaagCgtctgtctttgtgatgatca	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62670660C>T	ENST00000337910.5	-	4	618	c.281G>A	c.(280-282)cGc>cAc	p.R94H	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R94H	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	94	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATATGCAAAGCGTCTGTCTTT	0.443													False	0	True	10:62670660	0	T	62670660	C	T	62670660	3	4	88	1	0	0	0	0	1	0	0	0	13412	768	27	1	1841	1	RHOBTB1	10	62670660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22201	62670660	72864087	10633	18345											
C10orf107	219621	broad.mit.edu	37	chr10	63525708	63525708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcacagaccgagataaaCgaaaaactgcaaatacagga	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:63525708C>T	ENST00000330194.2	+	7	869	c.564C>T	c.(562-564)aaC>aaT	p.N188N		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	188										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					CCGAGATAAACGAAAAACTGC	0.383													False	0	True	10:63525708	0	T	63525708	C	T	63525708	2	4	88	1	0	0	0	0	0	0	0	1	1589	535	19	1		1	C10orf107	10	63525708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	855048	63525708	72009039	10634	18346											
ARID5B	84159	broad.mit.edu	37	chr10	63852705	63852705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaccttttgcataacagCatttaccctttagctgctat	8	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:63852705C>T	ENST00000279873.7	+	10	3893	c.3483C>T	c.(3481-3483)agC>agT	p.S1161S	ARID5B_ENST00000309334.5_Silent_p.S918S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1161					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGCATAACAGCATTTACCCTT	0.483													False	0	False	10:63852705	0	T	63852705	C	T	63852705	2	4	88	1	0	0	0	0	0	0	0	1	924	709	25	2		2	ARID5B	10	63852705	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	326997	63852705	71682042	10635	18347											
ZNF365	22891	broad.mit.edu	37	chr10	64159483	64159483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagctcctggggtttggcCgcaaaggcaacatcaggccc	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64159483C>T	ENST00000395254.3	+	5	1439	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGGTTTGGCCGCAAAGGCAA	0.542													False	0	False	10:64159483	0	T	64159483	C	T	64159483	3	4	88	1	0	0	0	0	1	0	0	0	17952	652	23	1	1173	1	ZNF365	10	64159483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	306778	64159483	71375264	10636	18348											
ZNF365	22891	broad.mit.edu	37	chr10	64382994	64382994	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaaatccctggacgtcTtccacggctactgcaggtga	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64382994T>G	ENST00000410046.3	+	5	1393	c.1113T>G	c.(1111-1113)tcT>tcG	p.S371S	ZNF365_ENST00000395251.1_Intron	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	125										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCTGGACGTCTTCCACGGCTA	0.458													False	0	False	10:64382994	0	G	64382994	T	G	64382994	2	3	88	1	0	0	0	0	0	0	0	1	17952	1596	56	4		4	ZNF365	10	64382994	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	223511	64382994	71151753	10637	18349											
ZNF365	22891	broad.mit.edu	37	chr10	64414614	64414614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttattctaggtgctggaataCagagaggaaccaaacagata	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64414614C>T	ENST00000395251.1	+	3	384	c.50C>T	c.(49-51)aCa>aTa	p.T17I	ZNF365_ENST00000395249.1_Intron|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	17										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					tgctggaatacagagaggaac	0.463													False	0	True	10:64414614	0	T	64414614	C	T	64414614	3	4	88	1	0	0	0	0	1	0	0	0	17952	478	17	2	1534	2	ZNF365	10	64414614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31620	64414614	71120133	10638	18350											
EGR2	1959	broad.mit.edu	37	chr10	64573594	64573594	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccccccagggtaaagttacgGattgtagagagtggagtgag	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573594G>T	ENST00000242480.3	-	2	1129	c.804C>A	c.(802-804)atC>atA	p.I268I	EGR2_ENST00000439032.1_Silent_p.I268I|EGR2_ENST00000411732.1_Silent_p.I218I	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	268			I -> N (in CHN).		fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAAAGTTACGGATTGTAGAGA	0.652													False	0	False	10:64573594	0	T	64573594	G	T	64573594	2	4	88	1	0	0	0	0	0	0	0	1	5002	1164	41	3		3	EGR2	10	64573594	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158980	64573594	70961153	10639	18351											
EGR2	1959	broad.mit.edu	37	chr10	64573855	64573855	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacgcagaagggtcctggtaGaggtctcctgcacagccaga	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573855G>A	ENST00000242480.3	-	2	868	c.543C>T	c.(541-543)ctC>ctT	p.L181L	EGR2_ENST00000439032.1_Silent_p.L181L|EGR2_ENST00000411732.1_Silent_p.L131L	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	181					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTCCTGGTAGAGGTCTCCTG	0.627													False	0	False	10:64573855	0	A	64573855	G	A	64573855	2	1	88	1	0	0	0	0	0	0	0	1	5002	929	33	2		2	EGR2	10	64573855	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	261	64573855	70960892	10640	18352											
EGR2	1959	broad.mit.edu	37	chr10	64573870	64573870	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtagaggtctcctgcacaGccagaataaggaggaggagg	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573870G>T	ENST00000242480.3	-	2	853	c.528C>A	c.(526-528)ggC>ggA	p.G176G	EGR2_ENST00000439032.1_Silent_p.G176G|EGR2_ENST00000411732.1_Silent_p.G126G	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	176					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTCCTGCACAGCCAGAATAAG	0.622													False	0	False	10:64573870	0	T	64573870	G	T	64573870	2	4	88	1	0	0	0	0	0	0	0	1	5002	958	34	3		3	EGR2	10	64573870	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	64573870	70960877	10641	18353											
JMJD1C	221037	broad.mit.edu	37	chr10	64937606	64937606	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaatcttcttcctcaaatttCttgagaattcctgaaacaaa	3	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64937606C>A	ENST00000399262.2	-	23	7313	c.7095G>T	c.(7093-7095)aaG>aaT	p.K2365N	JMJD1C_ENST00000542921.1_Missense_Mutation_p.K2183N|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K2128N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2365	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCTCAAATTTCTTGAGAATTC	0.383													False	0	True	10:64937606	0	A	64937606	C	A	64937606	3	1	88	1	0	0	0	0	1	0	0	0	8000	912	32	3	543	3	JMJD1C	10	64937606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	363736	64937606	70597141	10642	18354											
JMJD1C	221037	broad.mit.edu	37	chr10	64968149	64968149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actattagacaatgtagtgaAatagttactttggggtaaac	9	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64968149A>G	ENST00000399262.2	-	10	3498	c.3280T>C	c.(3280-3282)Ttc>Ctc	p.F1094L	JMJD1C_ENST00000542921.1_Missense_Mutation_p.F912L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.F875L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.F875L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1094					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AATGTAGTGAAATAGTTACTT	0.373													False	0	True	10:64968149	0	G	64968149	A	G	64968149	3	3	88	1	0	0	0	0	1	0	0	0	8000	14	1	4	4410	4	JMJD1C	10	64968149	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30543	64968149	70566598	10643	18355											
JMJD1C	221037	broad.mit.edu	37	chr10	64968369	64968369	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaattcgacggtgttcCtctttgtatttgtttaacct	8	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64968369C>A	ENST00000399262.2	-	10	3278	c.3060G>T	c.(3058-3060)gaG>gaT	p.E1020D	JMJD1C_ENST00000542921.1_Missense_Mutation_p.E838D|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E801D|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E801D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1020					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GACGGTGTTCCTCTTTGTATT	0.408													False	0	False	10:64968369	0	A	64968369	C	A	64968369	3	1	88	1	0	0	0	0	1	0	0	0	8000	680	24	3	4630	3	JMJD1C	10	64968369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220	64968369	70566378	10644	18356											
JMJD1C	221037	broad.mit.edu	37	chr10	64975428	64975428	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaaggtcatttgaaccataGaaggatcgacattctgtggt	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64975428G>A	ENST00000399262.2	-	6	925	c.707C>T	c.(706-708)tCt>tTt	p.S236F	JMJD1C_ENST00000489372.2_Intron|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S54F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S17F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S17F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	236					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGAACCATAGAAGGATCGAC	0.328													False	0	False	10:64975428	0	A	64975428	G	A	64975428	3	1	88	1	0	0	0	0	1	0	0	0	8000	942	33	2	6999	2	JMJD1C	10	64975428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7059	64975428	70559319	10645	18357											
JMJD1C	221037	broad.mit.edu	37	chr10	65225411	65225411	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cccaccagctctgcccgcgtCtctaccgccatagctgtcgc	8	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:65225411C>T	ENST00000399262.2	-	1	230	c.12G>A	c.(10-12)gaG>gaA	p.E4E	JMJD1C_ENST00000399251.1_5'UTR|JMJD1C-AS1_ENST00000609436.1_RNA	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	4					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGCCCGCGTCTCTACCGCCA	0.677													False	0	False	10:65225411	0	T	65225411	C	T	65225411	2	4	88	1	0	0	0	0	0	0	0	1	8000	912	32	2		2	JMJD1C	10	65225411	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249983	65225411	70309336	10646	18358											
CTNNA3	29119	broad.mit.edu	37	chr10	67680191	67680191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacacgtttcctctggcttcTctcttttaatcaagggtttt	6	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:67680191T>C	ENST00000433211.2	-	18	2759	c.2585A>G	c.(2584-2586)gAg>gGg	p.E862G	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E862G	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTCTGGCTTCTCTCTTTTAAT	0.468													False	0	True	10:67680191	0	C	67680191	T	C	67680191	3	2	88	1	0	0	0	0	1	0	0	0	4039	1551	54	4	106	4	CTNNA3	10	67680191	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2454780	67680191	67854556	10647	18359											
LRRTM3	347731	broad.mit.edu	37	chr10	68686696	68686696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtttcaatgtaattaggCtactgagcggatcagctgta	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68686696C>T	ENST00000361320.4	+	2	600	c.22C>T	c.(22-24)Cta>Tta	p.L8L	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	8						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGTAATTAGGCTACTGAGCGG	0.403													False	0	False	10:68686696	0	T	68686696	C	T	68686696	2	4	88	1	0	0	0	0	0	0	0	1	9103	796	28	2		2	LRRTM3	10	68686696	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1006505	68686696	66848051	10648	18360											
LRRTM3	347731	broad.mit.edu	37	chr10	68686880	68686880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttaggtttgtcccttcGctataacagccttcaaaaac	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68686880G>A	ENST00000361320.4	+	2	784	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	69						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TTGTCCCTTCGCTATAACAGC	0.398													False	0	False	10:68686880	0	A	68686880	G	A	68686880	3	1	88	1	0	0	0	0	1	0	0	0	9103	1087	38	1	212	1	LRRTM3	10	68686880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184	68686880	66847867	10649	18361											
LRRTM3	347731	broad.mit.edu	37	chr10	68687299	68687299	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggcatgatcagactcaaaGaacttcacctggagcacaat	8	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68687299G>A	ENST00000361320.4	+	2	1203	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	209						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAGACTCAAAGAACTTCACCT	0.453													False	0	True	10:68687299	0	A	68687299	G	A	68687299	3	1	88	1	0	0	0	0	1	0	0	0	9103	943	33	2	631	2	LRRTM3	10	68687299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	419	68687299	66847448	10650	18362											
CTNNA3	29119	broad.mit.edu	37	chr10	69366623	69366623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagtactcactttctttgCgaacttcctcaagtgaagcc	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69366623C>T	ENST00000433211.2	-	3	458	c.284G>A	c.(283-285)cGc>cAc	p.R95H	CTNNA3_ENST00000545309.1_Missense_Mutation_p.R95H|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R95H	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTTTCTTTGCGAACTTCCTC	0.423													False	0	False	10:69366623	0	T	69366623	C	T	69366623	3	4	88	1	0	0	0	0	1	0	0	0	4039	768	27	1	2467	1	CTNNA3	10	69366623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	679324	69366623	66168124	10651	18363											
SIRT1	23411	broad.mit.edu	37	chr10	69651188	69651188	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtggaatacctgactTcaggtcaagggatggtattt	11	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69651188T>C	ENST00000212015.6	+	4	871	c.818T>C	c.(817-819)tTc>tCc	p.F273S	SIRT1_ENST00000432464.1_5'UTR|SIRT1_ENST00000497639.1_3'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	273	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ATACCTGACTTCAGGTCAAGG	0.383													False	0	False	10:69651188	0	C	69651188	T	C	69651188	3	2	88	1	0	0	0	0	1	0	0	0	14418	1783	62	4	832	4	SIRT1	10	69651188	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	284565	69651188	65883559	10652	18364											
MYPN	84665	broad.mit.edu	37	chr10	69926239	69926239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagctccaggattgggcttCgtgtgcacttcaacctgcct	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69926239C>T	ENST00000358913.5	+	10	2277	c.1789C>T	c.(1789-1791)Cgt>Tgt	p.R597C	MYPN_ENST00000540630.1_Missense_Mutation_p.R597C|MYPN_ENST00000354393.2_Missense_Mutation_p.R322C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	597						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GATTGGGCTTCGTGTGCACTT	0.572													False	0	False	10:69926239	0	T	69926239	C	T	69926239	3	4	88	1	0	0	0	0	1	0	0	0	10165	884	31	1	1823	1	MYPN	10	69926239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275051	69926239	65608508	10653	18365											
MYPN	84665	broad.mit.edu	37	chr10	69966658	69966658	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaggctggatatatAcggtaagtgtaatgctgtta	11	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69966658A>G	ENST00000358913.5	+	19	4279	c.3791A>G	c.(3790-3792)tAc>tGc	p.Y1264C	MYPN_ENST00000540630.1_Missense_Mutation_p.Y1264C|MYPN_ENST00000354393.2_Missense_Mutation_p.Y989C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1264	Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTGGATATATACGGTAAGTGT	0.448													False	0	True	10:69966658	0	G	69966658	A	G	69966658	3	3	88	1	0	0	0	0	1	0	0	0	10165	391	14	4	3861	4	MYPN	10	69966658	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40419	69966658	65568089	10654	18366											
ATOH7	220202	broad.mit.edu	37	chr10	69991175	69991175	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtcagagccatgatgtagCtcagggccatctgcagggtc	15	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69991175C>A	ENST00000373673.3	-	1	696	c.260G>T	c.(259-261)aGc>aTc	p.S87I		NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	87	Helix-loop-helix motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CATGATGTAGCTCAGGGCCAT	0.637													False	0	False	10:69991175	0	A	69991175	C	A	69991175	3	1	88	1	0	0	0	0	1	0	0	0	1117	797	28	3	202	3	ATOH7	10	69991175	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24517	69991175	65543572	10655	18367											
HNRNPH3	3189	broad.mit.edu	37	chr10	70101600	70101600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtactcctgatggtttggGtggttatggtaagtatctct	13	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70101600G>A	ENST00000265866.7	+	9	1121	c.956G>A	c.(955-957)gGt>gAt	p.G319D	HNRNPH3_ENST00000354695.5_Missense_Mutation_p.G304D|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.G211D	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	319	Gly-rich.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GATGGTTTGGGTGGTTATGGT	0.363													False	0	True	10:70101600	0	A	70101600	G	A	70101600	3	1	88	1	0	0	0	0	1	0	0	0	7315	1261	44	2	986	2	HNRNPH3	10	70101600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110425	70101600	65433147	10656	18368											
DNA2	1763	broad.mit.edu	37	chr10	70182500	70182500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagctgctgatggtcccCcactaacacaaatctccgtg	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70182500C>A	ENST00000399180.2	-	15	2613	c.2614G>T	c.(2614-2616)Ggg>Tgg	p.G872W	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000358410.3_Missense_Mutation_p.G786W			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	786					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGATGGTCCCCCACTAACACA	0.408													False	0	True	10:70182500	0	A	70182500	C	A	70182500	3	1	88	1	0	0	0	0	1	0	0	0	4626	623	22	3	854	3	DNA2	10	70182500	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80900	70182500	65352247	10657	18369											
DNA2	1763	broad.mit.edu	37	chr10	70196900	70196900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttgtgacaggtatggcaCcatgtttacattggaaatta	10	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70196900C>T	ENST00000399180.2	-	10	1771	c.1772G>A	c.(1771-1773)gGt>gAt	p.G591D	DNA2_ENST00000399179.2_Missense_Mutation_p.G505D|DNA2_ENST00000358410.3_Missense_Mutation_p.G505D			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	505					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AGGTATGGCACCATGTTTACA	0.388													False	0	False	10:70196900	0	T	70196900	C	T	70196900	3	4	88	1	0	0	0	0	1	0	0	0	4626	507	18	2	1716	2	DNA2	10	70196900	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14400	70196900	65337847	10658	18370											
SLC25A16	8034	broad.mit.edu	37	chr10	70248346	70248346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtaggagcatgggaaagCccaacactcttcaaggtacc	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70248346C>T	ENST00000609923.1	-	7	749	c.651G>A	c.(649-651)ggG>ggA	p.G217G	SLC25A16_ENST00000539557.1_Silent_p.G119G|SLC25A16_ENST00000265870.3_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16						coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						CATGGGAAAGCCCAACACTCT	0.373													False	0	True	10:70248346	0	T	70248346	C	T	70248346	2	4	88	1	0	0	0	0	0	0	0	1	14558	726	26	2		2	SLC25A16	10	70248346	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51446	70248346	65286401	10659	18371											
TET1	80312	broad.mit.edu	37	chr10	70332731	70332731	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacagtggccctgcagctgaGatccttcctgggccactgga	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70332731G>T	ENST00000373644.4	+	2	845	c.636G>T	c.(634-636)gaG>gaT	p.E212D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	212					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTGCAGCTGAGATCCTTCCTG	0.478													False	0	False	10:70332731	0	T	70332731	G	T	70332731	3	4	88	1	0	0	0	0	1	0	0	0	15851	933	33	3	638	3	TET1	10	70332731	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84385	70332731	65202016	10660	18372											
TET1	80312	broad.mit.edu	37	chr10	70333489	70333489	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggacttgcagtccagggtgCtatacagattttgcctttgg	12	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70333489C>A	ENST00000373644.4	+	2	1603	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	465					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTCCAGGGTGCTATACAGATT	0.438													False	0	False	10:70333489	0	A	70333489	C	A	70333489	3	1	88	1	0	0	0	0	1	0	0	0	15851	797	28	3	1396	3	TET1	10	70333489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	758	70333489	65201258	10661	18373											
TET1	80312	broad.mit.edu	37	chr10	70406025	70406025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagaagtgggaaaagttgtCctatatgtatggcacaatat	11	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70406025C>T	ENST00000373644.4	+	4	3748	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1180					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAAAAGTTGTCCTATATGTAT	0.378													False	0	False	10:70406025	0	T	70406025	C	T	70406025	3	4	88	1	0	0	0	0	1	0	0	0	15851	855	30	2	3549	2	TET1	10	70406025	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72536	70406025	65128722	10662	18374											
TET1	80312	broad.mit.edu	37	chr10	70426935	70426935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttccaatggccgaccGgctatacacagagctcacag	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70426935G>A	ENST00000373644.4	+	7	4804	c.4595G>A	c.(4594-4596)cGg>cAg	p.R1532Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1532					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATGGCCGACCGGCTATACACA	0.488													False	0	False	10:70426935	0	A	70426935	G	A	70426935	3	1	88	1	0	0	0	0	1	0	0	0	15851	1116	39	1	4617	1	TET1	10	70426935	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20910	70426935	65107812	10663	18375											
TET1	80312	broad.mit.edu	37	chr10	70450655	70450655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agacaacactaaaacttattCgctgatgccatccgctcctc	5	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70450655C>T	ENST00000373644.4	+	12	5704	c.5495C>T	c.(5494-5496)tCg>tTg	p.S1832L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1832					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAACTTATTCGCTGATGCCA	0.478													False	0	False	10:70450655	0	T	70450655	C	T	70450655	3	4	88	1	0	0	0	0	1	0	0	0	15851	893	31	1	5537	1	TET1	10	70450655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23720	70450655	65084092	10664	18376											
CCAR1	55749	broad.mit.edu	37	chr10	70508917	70508917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttattgcagcctcctgttcGtatagtttcacagccacaac	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70508917G>A	ENST00000265872.6	+	9	970	c.851G>A	c.(850-852)cGt>cAt	p.R284H	CCAR1_ENST00000535016.1_Missense_Mutation_p.R269H|CCAR1_ENST00000543719.1_Missense_Mutation_p.R269H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	284					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CCTCCTGTTCGTATAGTTTCA	0.408													False	0	False	10:70508917	0	A	70508917	G	A	70508917	3	1	88	1	0	0	0	0	1	0	0	0	2750	1145	40	1	881	1	CCAR1	10	70508917	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58262	70508917	65025830	10665	18377											
CCAR1	55749	broad.mit.edu	37	chr10	70515188	70515188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaggccactggtctccttCgttggatggaccagacccag	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70515188C>T	ENST00000265872.6	+	13	1639	c.1520C>T	c.(1519-1521)tCg>tTg	p.S507L	CCAR1_ENST00000535016.1_Missense_Mutation_p.S492L|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Missense_Mutation_p.S492L	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	507					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TGGTCTCCTTCGTTGGATGGA	0.428													False	0	False	10:70515188	0	T	70515188	C	T	70515188	3	4	88	1	0	0	0	0	1	0	0	0	2750	893	31	1	1566	1	CCAR1	10	70515188	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6271	70515188	65019559	10666	18378											
STOX1	219736	broad.mit.edu	37	chr10	70644062	70644062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttataccactctgggaacGctgattaaagaaaggaagat	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70644062G>A	ENST00000298596.6	+	3	593	c.510G>A	c.(508-510)acG>acA	p.T170T	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Silent_p.T170T|STOX1_ENST00000421961.2_Silent_p.T60T|STOX1_ENST00000399165.4_Silent_p.T170T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	170						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTCTGGGAACGCTGATTAAAG	0.333													False	0	False	10:70644062	0	A	70644062	G	A	70644062	2	1	88	1	0	0	0	0	0	0	0	1	15401	1074	38	1		1	STOX1	10	70644062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128874	70644062	64890685	10667	18379											
STOX1	219736	broad.mit.edu	37	chr10	70644973	70644973	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaaatggtaggtcagaAaccacttggtgagattacaa	10	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70644973A>C	ENST00000298596.6	+	3	1504	c.1421A>C	c.(1420-1422)aAa>aCa	p.K474T	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.K474T|STOX1_ENST00000421961.2_Missense_Mutation_p.K364T|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	474						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTAGGTCAGAAACCACTTGGT	0.453													False	0	True	10:70644973	0	C	70644973	A	C	70644973	3	2	88	1	0	0	0	0	1	0	0	0	15401	14	1	4	1431	4	STOX1	10	70644973	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	911	70644973	64889774	10668	18380											
STOX1	219736	broad.mit.edu	37	chr10	70645435	70645435	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaaagtcattcccactTtgacaaattaggggagacca	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70645435T>C	ENST00000298596.6	+	3	1966	c.1883T>C	c.(1882-1884)tTt>tCt	p.F628S	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.F628S|STOX1_ENST00000421961.2_Missense_Mutation_p.F518S|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	628						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CATTCCCACTTTGACAAATTA	0.443													False	0	True	10:70645435	0	C	70645435	T	C	70645435	3	2	88	1	0	0	0	0	1	0	0	0	15401	1841	64	4	1893	4	STOX1	10	70645435	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	462	70645435	64889312	10669	18381											
DDX50	79009	broad.mit.edu	37	chr10	70673194	70673194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcttggttggaacacctggtCgtatcaaagaccatctgcag	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70673194C>T	ENST00000373585.3	+	6	912	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	269	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AACACCTGGTCGTATCAAAGA	0.388													False	0	False	10:70673194	0	T	70673194	C	T	70673194	3	4	88	1	0	0	0	0	1	0	0	0	4393	884	31	1	827	1	DDX50	10	70673194	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27759	70673194	64861553	10670	18382											
DDX50	79009	broad.mit.edu	37	chr10	70673252	70673252	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaactgcgacatgttgTgcttgatgaagtggatcaga	11	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70673252T>C	ENST00000373585.3	+	6	970	c.863T>C	c.(862-864)gTg>gCg	p.V288A		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	288	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CGACATGTTGTGCTTGATGAA	0.378													False	0	False	10:70673252	0	C	70673252	T	C	70673252	3	2	88	1	0	0	0	0	1	0	0	0	4393	1696	59	4	885	4	DDX50	10	70673252	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	58	70673252	64861495	10671	18383											
DDX50	79009	broad.mit.edu	37	chr10	70679738	70679738	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatccacacataaaacagGtaagtctttttttcatgctt	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70679738G>A	ENST00000373585.3	+	8	1346		c.e8+1		DDX50_ENST00000466265.1_Splice_Site	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CATAAAACAGGTAAGTCTTTT	0.373													False	0	False	10:70679738	0	A	70679738	G	A	70679738	5	1	88	1	0	0	0	0	0	0	1	0	4393	1275	44	2	1270	2	DDX50	10	70679738	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6486	70679738	64855009	10672	18384											
VPS26A	9559	broad.mit.edu	37	chr10	70892692	70892692	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttggtccaatttgtgagatCgatattgttcttaatgatgg	10	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70892692C>T	ENST00000373382.1	+	3	695	c.42C>T	c.(40-42)atC>atT	p.I14I	VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000489794.1_5'UTR|VPS26A_ENST00000546041.1_5'UTR|VPS26A_ENST00000395098.1_Silent_p.I14I|VPS26A_ENST00000263559.6_Silent_p.I14I|VPS26A_ENST00000490696.1_3'UTR			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	14					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TTTGTGAGATCGATATTGTTC	0.333													False	0	False	10:70892692	0	T	70892692	C	T	70892692	2	4	88	1	0	0	0	0	0	0	0	1	17281	874	31	1		1	VPS26A	10	70892692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212954	70892692	64642055	10673	18385											
SUPV3L1	6832	broad.mit.edu	37	chr10	70940063	70940063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgatgtccttctcccgtGccctattgtgggctcggctc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70940063G>A	ENST00000359655.4	+	1	76	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	6					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTCTCCCGTGCCCTATTGTG	0.697													False	0	True	10:70940063	0	A	70940063	G	A	70940063	3	1	88	1	0	0	0	0	1	0	0	0	15484	1319	46	2	18	2	SUPV3L1	10	70940063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47371	70940063	64594684	10674	18386											
SUPV3L1	6832	broad.mit.edu	37	chr10	70946204	70946204	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgtgtttctacagctcgtCtcttccaccaagctttcata	5	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70946204C>A	ENST00000359655.4	+	3	415	c.355C>A	c.(355-357)Ctc>Atc	p.L119I	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	119					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACAGCTCGTCTCTTCCACCA	0.363													False	0	False	10:70946204	0	A	70946204	C	A	70946204	3	1	88	1	0	0	0	0	1	0	0	0	15484	913	32	3	365	3	SUPV3L1	10	70946204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6141	70946204	64588543	10675	18387											
HKDC1	80201	broad.mit.edu	37	chr10	71008237	71008237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccaagctgtgatgtccgCttcctcctgtcagagagtgg	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71008237C>T	ENST00000354624.5	+	10	1456	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	HKDC1_ENST00000395086.2_Silent_p.R441R|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	441					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.V440fs*51(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTGATGTCCGCTTCCTCCTGT	0.597													False	0	False	10:71008237	0	T	71008237	C	T	71008237	2	4	88	1	0	0	0	0	0	0	0	1	7240	784	28	2		2	HKDC1	10	71008237	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62033	71008237	64526510	10676	18388											
HK1	3098	broad.mit.edu	37	chr10	71119777	71119777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttatgacaccccagagaaCatcgtgcacggcagtggaag	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71119777C>T	ENST00000448642.2	+	8	845	c.456C>T	c.(454-456)aaC>aaT	p.N152N	HK1_ENST00000360289.2_Silent_p.N105N|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.N116N|HK1_ENST00000404387.2_Silent_p.N121N|HK1_ENST00000359426.6_Silent_p.N117N			P19367	HXK1_HUMAN	hexokinase 1	117	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CCCCAGAGAACATCGTGCACG	0.562													False	0	False	10:71119777	0	T	71119777	C	T	71119777	2	4	88	1	0	0	0	0	0	0	0	1	7237	477	17	2		2	HK1	10	71119777	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111540	71119777	64414970	10677	18389											
HK1	3098	broad.mit.edu	37	chr10	71129326	71129326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatcattagaagacatccGgacagagtttgacagggaga	13	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71129326G>A	ENST00000448642.2	+	12	1315	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	HK1_ENST00000360289.2_Missense_Mutation_p.R262Q|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.R273Q|HK1_ENST00000404387.2_Missense_Mutation_p.R278Q|HK1_ENST00000359426.6_Missense_Mutation_p.R274Q			P19367	HXK1_HUMAN	hexokinase 1	274	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GAAGACATCCGGACAGAGTTT	0.493													False	0	False	10:71129326	0	A	71129326	G	A	71129326	3	1	88	1	0	0	0	0	1	0	0	0	7237	1116	39	1	1025	1	HK1	10	71129326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9549	71129326	64405421	10678	18390											
HK1	3098	broad.mit.edu	37	chr10	71142486	71142486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggctgaggaagcagacGcacaacaatgccgtggttaa	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71142486G>A	ENST00000448642.2	+	15	2003	c.1614G>A	c.(1612-1614)acG>acA	p.T538T	HK1_ENST00000360289.2_Silent_p.T491T|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.T502T|HK1_ENST00000404387.2_Silent_p.T507T|HK1_ENST00000359426.6_Silent_p.T503T			P19367	HXK1_HUMAN	hexokinase 1	503	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.T507T(1)|p.T502T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGAAGCAGACGCACAACAATG	0.617													False	0	False	10:71142486	0	A	71142486	G	A	71142486	2	1	88	1	0	0	0	0	0	0	0	1	7237	1074	38	1		1	HK1	10	71142486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13160	71142486	64392261	10679	18391											
TACR2	6865	broad.mit.edu	37	chr10	71164835	71164835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaagccggaatccagagCgaaacctgggggagcgaggg	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71164835C>T	ENST00000373306.4	-	5	1487	c.944G>A	c.(943-945)cGc>cAc	p.R315H	TACR2_ENST00000373307.1_Missense_Mutation_p.R103H	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	315					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GAATCCAGAGCGAAACCTGGG	0.622													False	0	False	10:71164835	0	T	71164835	C	T	71164835	3	4	88	1	0	0	0	0	1	0	0	0	15588	768	27	1	256	1	TACR2	10	71164835	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22349	71164835	64369912	10680	18392											
C10orf35	219738	broad.mit.edu	37	chr10	71392750	71392750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttcctgctcatgatgCttggtgttcgtggcctcctc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71392750C>T	ENST00000373279.4	+	4	460	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	101						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GCTCATGATGCTTGGTGTTCG	0.592													False	0	False	10:71392750	0	T	71392750	C	T	71392750	3	4	88	1	0	0	0	0	1	0	0	0	1611	797	28	2	307	2	C10orf35	10	71392750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227915	71392750	64141997	10681	18393											
COL13A1	1305	broad.mit.edu	37	chr10	71634908	71634908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaggtgccattgggatgCctggacgtgtggtgagttgg	17	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71634908C>T	ENST00000356340.3	+	4	960	c.424C>T	c.(424-426)Cct>Tct	p.P142S	COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398972.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398978.3_Missense_Mutation_p.P142S|COL13A1_ENST00000354547.3_Missense_Mutation_p.P142S|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000398966.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000398971.3_Missense_Mutation_p.P142S|COL13A1_ENST00000398973.3_Missense_Mutation_p.P142S|COL13A1_ENST00000522165.1_Missense_Mutation_p.P142S|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398968.3_Missense_Mutation_p.P142S|COL13A1_ENST00000357811.3_Missense_Mutation_p.P142S|COL13A1_ENST00000517713.1_Missense_Mutation_p.P142S			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	142	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CATTGGGATGCCTGGACGTGT	0.537													False	0	False	10:71634908	0	T	71634908	C	T	71634908	3	4	88	1	0	0	0	0	1	0	0	0	3693	739	26	2	442	2	COL13A1	10	71634908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	242158	71634908	63899839	10682	18394											
H2AFY2	55506	broad.mit.edu	37	chr10	71851615	71851615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaagtcggaaacgatcCtctccccacccccagagaaa	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71851615C>A	ENST00000373255.4	+	4	646	c.382C>A	c.(382-384)Ctc>Atc	p.L128I		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	128	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GGAAACGATCCTCTCCCCACC	0.577													False	0	False	10:71851615	0	A	71851615	C	A	71851615	3	1	88	1	0	0	0	0	1	0	0	0	6977	681	24	3	392	3	H2AFY2	10	71851615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	216707	71851615	63683132	10683	18395											
AIFM2	84883	broad.mit.edu	37	chr10	71874688	71874688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcttacccggcttgtaggCctggagaggccgctgcttca	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71874688C>T	ENST00000307864.1	-	8	1171	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Missense_Mutation_p.A320T	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	320					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						GGCTTGTAGGCCTGGAGAGGC	0.567													False	0	False	10:71874688	0	T	71874688	C	T	71874688	3	4	88	1	0	0	0	0	1	0	0	0	427	739	26	2	171	2	AIFM2	10	71874688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23073	71874688	63660059	10684	18396											
AIFM2	84883	broad.mit.edu	37	chr10	71880912	71880912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaacctcattaaacttgCccgggaagggcccagtgctg	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71880912C>T	ENST00000307864.1	-	4	563	c.350G>A	c.(349-351)gGc>gAc	p.G117D	AIFM2_ENST00000373248.1_Missense_Mutation_p.G117D	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	117					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ATTAAACTTGCCCGGGAAGGG	0.517													False	0	True	10:71880912	0	T	71880912	C	T	71880912	3	4	88	1	0	0	0	0	1	0	0	0	427	739	26	2	795	2	AIFM2	10	71880912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6224	71880912	63653835	10685	18397											
PRF1	5551	broad.mit.edu	37	chr10	72357840	72357840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccactccggtttcctggaGgctcccccagaagcatttgg	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72357840G>A	ENST00000441259.1	-	3	1797	c.1637C>T	c.(1636-1638)cCt>cTt	p.P546L	PRF1_ENST00000373209.2_Missense_Mutation_p.P546L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	546					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GTTTCCTGGAGGCTCCCCCAG	0.582			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				False	0	False	10:72357840	0	A	72357840	G	A	72357840	3	1	88	1	0	0	0	0	1	0	0	0	12554	1000	35	2	34	2	PRF1	10	72357840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	476928	72357840	63176907	10686	18398											
ADAMTS14	140766	broad.mit.edu	37	chr10	72496502	72496502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaacccgtacttctgcaagAccaagaaggggcccccgctg	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72496502A>G	ENST00000373208.1	+	10	1561	c.1561A>G	c.(1561-1563)Acc>Gcc	p.T521A	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.T518A	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	518	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTTCTGCAAGACCAAGAAGGG	0.612													False	0	False	10:72496502	0	G	72496502	A	G	72496502	3	3	88	1	0	0	0	0	1	0	0	0	259	275	10	4	1599	4	ADAMTS14	10	72496502	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	138662	72496502	63038245	10687	18399											
ADAMTS14	140766	broad.mit.edu	37	chr10	72500759	72500759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcccagcctatggaggcCgcctgtgcttagggcccatg	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72500759C>T	ENST00000373208.1	+	12	1774	c.1774C>T	c.(1774-1776)Cgc>Tgc	p.R592C	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R589C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	589	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTATGGAGGCCGCCTGTGCTT	0.627													False	0	False	10:72500759	0	T	72500759	C	T	72500759	3	4	88	1	0	0	0	0	1	0	0	0	259	652	23	1	1820	1	ADAMTS14	10	72500759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4257	72500759	63033988	10688	18400											
SGPL1	8879	broad.mit.edu	37	chr10	72631635	72631635	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcatgtcgacgcttgTctgggaggcttcctcatcgt	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72631635T>C	ENST00000373202.3	+	11	1151	c.951T>C	c.(949-951)tgT>tgC	p.C317C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	317					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TCGACGCTTGTCTGGGAGGCT	0.423													False	0	False	10:72631635	0	C	72631635	T	C	72631635	2	2	88	1	0	0	0	0	0	0	0	1	14299	1673	58	4		4	SGPL1	10	72631635	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	130876	72631635	62903112	10689	18401											
UNC5B	219699	broad.mit.edu	37	chr10	73051266	73051266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaccgcggacccgtgtatGccctgcaggactccaccgac	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73051266G>A	ENST00000335350.6	+	10	1788	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A447T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	458					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACCCGTGTATGCCCTGCAGGA	0.617													False	0	True	10:73051266	0	A	73051266	G	A	73051266	3	1	88	1	0	0	0	0	1	0	0	0	17076	1319	46	2	1410	2	UNC5B	10	73051266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	419631	73051266	62483481	10690	18402											
SLC29A3	55315	broad.mit.edu	37	chr10	73121880	73121880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcttctgtgtcacctacGtcttcttcatcaccagcctc	7	15	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73121880G>A	ENST00000373189.5	+	6	995	c.943G>A	c.(943-945)Gtc>Atc	p.V315I	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	315					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGTCACCTACGTCTTCTTCAT	0.577													False	0	False	10:73121880	0	A	73121880	G	A	73121880	3	1	88	1	0	0	0	0	1	0	0	0	14616	1145	40	1	969	1	SLC29A3	10	73121880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70614	73121880	62412867	10691	18403											
CDH23	64072	broad.mit.edu	37	chr10	73447448	73447448	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcagcaagcccgcctacttCgtctccgtggtggagaacat	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73447448C>T	ENST00000224721.6	+	18	2051	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	CDH23_ENST00000299366.7_Silent_p.F722F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	677	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGCCTACTTCGTCTCCGTGG	0.627													False	0	False	10:73447448	0	T	73447448	C	T	73447448	2	4	88	1	0	0	0	0	0	0	0	1	3131	883	31	1		1	CDH23	10	73447448	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325568	73447448	62087299	10692	18404											
CDH23	64072	broad.mit.edu	37	chr10	73462397	73462397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccccacctttcagaacctGccttttgtggccgaggtgct	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73462397G>A	ENST00000224721.6	+	23	2699	c.2694G>A	c.(2692-2694)ctG>ctA	p.L898L	CDH23_ENST00000299366.7_Silent_p.L938L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	893	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TTCAGAACCTGCCTTTTGTGG	0.562													False	0	False	10:73462397	0	A	73462397	G	A	73462397	2	1	88	1	0	0	0	0	0	0	0	1	3131	1306	46	2		2	CDH23	10	73462397	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14949	73462397	62072350	10693	18405											
CDH23	64072	broad.mit.edu	37	chr10	73500672	73500672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgacaaccctccagtcatcGagagcccctttggatacaat	7	13	1	2	rs149752120	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73500672G>A	ENST00000224721.6	+	36	4602	c.4597G>A	c.(4597-4599)Gag>Aag	p.E1533K		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1528	Cadherin 15.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCCAGTCATCGAGAGCCCCTT	0.587													False	0	False	10:73500672	0	A	73500672	G	A	73500672	3	1	88	1	0	0	0	0	1	0	0	0	3131	1059	37	1	5069	1	CDH23	10	73500672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38275	73500672	62034075	10694	18406											
C10orf54	64115	broad.mit.edu	37	chr10	73521358	73521358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggatgccctcacctgTctgcacctgcagctccatgg	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73521358T>C	ENST00000394957.3	-	2	566	c.508A>G	c.(508-510)Aca>Gca	p.T170A	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	170						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCCTCACCTGTCTGCACCTGC	0.622													False	0	False	10:73521358	0	C	73521358	T	C	73521358	3	2	88	1	0	0	0	0	1	0	0	0	1615	1667	58	4	451	4	C10orf54	10	73521358	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20686	73521358	62013389	10695	18407											
C10orf54	64115	broad.mit.edu	37	chr10	73521597	73521597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctggaacgtgaggttgCggatgggccggcgctctgag	19	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73521597C>T	ENST00000394957.3	-	2	327	c.269G>A	c.(268-270)cGc>cAc	p.R90H	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	90	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CGTGAGGTTGCGGATGGGCCG	0.657													False	0	False	10:73521597	0	T	73521597	C	T	73521597	3	4	88	1	0	0	0	0	1	0	0	0	1615	768	27	1	690	1	C10orf54	10	73521597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	73521597	62013150	10696	18408											
CDH23	64072	broad.mit.edu	37	chr10	73569753	73569753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattaacgagatccccgacCgtgtgcgcggcttcgaggag	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73569753C>T	ENST00000224721.6	+	60	8919	c.8914C>T	c.(8914-8916)Cgt>Tgt	p.R2972C	CDH23_ENST00000398788.3_Missense_Mutation_p.R727C|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2967	Cadherin 27.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GATCCCCGACCGTGTGCGCGG	0.602													False	0	False	10:73569753	0	T	73569753	C	T	73569753	3	4	88	1	0	0	0	0	1	0	0	0	3131	652	23	1	9482	1	CDH23	10	73569753	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48156	73569753	61964994	10697	18409											
CDH23	64072	broad.mit.edu	37	chr10	73571308	73571308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcctcctgttcctggccgCcatgctctttgtcctcatga	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73571308C>T	ENST00000224721.6	+	63	9259	c.9254C>T	c.(9253-9255)gCc>gTc	p.A3085V	CDH23_ENST00000398788.3_Missense_Mutation_p.A840V|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3080					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TTCCTGGCCGCCATGCTCTTT	0.657													False	0	False	10:73571308	0	T	73571308	C	T	73571308	3	4	88	1	0	0	0	0	1	0	0	0	3131	739	26	2	9834	2	CDH23	10	73571308	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1555	73571308	61963439	10698	18410											
PSAP	5660	broad.mit.edu	37	chr10	73588645	73588645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcttacctttggctgggGcttgctgcgggggccgtcct	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73588645G>A	ENST00000394936.3	-	5	712	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S	PSAP_ENST00000394934.1_Missense_Mutation_p.P189S			P07602	SAP_HUMAN	prosaposin	189					glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTGGCTGGGGCTTGCTGCGG	0.582													False	0	True	10:73588645	0	A	73588645	G	A	73588645	3	1	88	1	0	0	0	0	1	0	0	0	12719	1203	42	2	1065	2	PSAP	10	73588645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17337	73588645	61946102	10699	18411											
PSAP	5660	broad.mit.edu	37	chr10	73588821	73588821	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgagagcagagcacaccTccccaggacggctctggtgg	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73588821T>G	ENST00000394936.3	-	5	536	c.389A>C	c.(388-390)gAg>gCg	p.E130A	PSAP_ENST00000394934.1_Missense_Mutation_p.E130A			P07602	SAP_HUMAN	prosaposin	130	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						AGAGCACACCTCCCCAGGACG	0.542													False	0	True	10:73588821	0	G	73588821	T	G	73588821	3	3	88	1	0	0	0	0	1	0	0	0	12719	1551	54	4	1241	4	PSAP	10	73588821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176	73588821	61945926	10700	18412											
CHST3	9469	broad.mit.edu	37	chr10	73767332	73767332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccggggggcgccaacgcCgcgggctcggccctggtgta	19	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73767332C>T	ENST00000373115.4	+	3	980	c.543C>T	c.(541-543)gcC>gcT	p.A181A		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	181					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						GCGCCAACGCCGCGGGCTCGG	0.652													False	0	False	10:73767332	0	T	73767332	C	T	73767332	2	4	88	1	0	0	0	0	0	0	0	1	3428	639	23	1		1	CHST3	10	73767332	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178511	73767332	61767415	10701	18413											
ASCC1	51008	broad.mit.edu	37	chr10	73921319	73921319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaattcctctttacactgCtgtagcatctcacatgtctg	6	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73921319C>T	ENST00000342444.4	-	7	788	c.687G>A	c.(685-687)caG>caA	p.Q229Q	ASCC1_ENST00000317126.4_Silent_p.Q201Q|ASCC1_ENST00000317168.6_Silent_p.Q201Q|ASCC1_ENST00000394915.3_Silent_p.Q229Q|ASCC1_ENST00000545550.1_Silent_p.Q223Q|ASCC1_ENST00000394919.1_Silent_p.Q201Q	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						CTTTACACTGCTGTAGCATCT	0.428													False	0	False	10:73921319	0	T	73921319	C	T	73921319	2	4	88	1	0	0	0	0	0	0	0	1	1035	796	28	2		2	ASCC1	10	73921319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153987	73921319	61613428	10702	18414											
ASCC1	51008	broad.mit.edu	37	chr10	73973061	73973061	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgcagaacttccatgacaCtttctccaaatgatattcca	5	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73973061C>T	ENST00000342444.4	-	0	97				ASCC1_ENST00000317126.4_De_novo_Start_OutOfFrame|ASCC1_ENST00000317168.6_De_novo_Start_OutOfFrame|ASCC1_ENST00000394915.3_De_novo_Start_OutOfFrame|ASCC1_ENST00000545550.1_Missense_Mutation_p.S21N|ASCC1_ENST00000394919.1_De_novo_Start_OutOfFrame|ASCC1_ENST00000492502.2_5'UTR	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TTCCATGACACTTTCTCCAAA	0.368													False	0	True	10:73973061	0	T	73973061	C	T	73973061	1	4	88	1	0	0	0	0	0	0	0	0	1035	580	20	2		2	ASCC1	10	73973061	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51742	73973061	61561686	10703	18415											
DDIT4	54541	broad.mit.edu	37	chr10	74034579	74034579	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcccaggcgcggctgggctCtcgacgccctgcgcgcctgc	16	18	1	0	rs143474945	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74034579C>T	ENST00000307365.3	+	3	533	c.332C>T	c.(331-333)tCt>tTt	p.S111F		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	111					apoptosis					cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CGGCTGGGCTCTCGACGCCCT	0.657											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	10:74034579	0	T	74034579	C	T	74034579	3	4	88	1	0	0	0	0	1	0	0	0	4356	913	32	2	338	2	DDIT4	10	74034579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61518	74034579	61500168	10704	18416											
OIT3	170392	broad.mit.edu	37	chr10	74671483	74671483	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctactgcagacgttgaaGgatgccacaataacaatggt	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74671483G>T	ENST00000334011.5	+	5	894	c.676G>T	c.(676-678)Gga>Tga	p.G226*		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	226						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AGACGTTGAAGGATGCCACAA	0.473													False	0	False	10:74671483	0	T	74671483	G	T	74671483	4	4	88	1	0	0	0	0	0	1	0	0	10917	1001	35	3	694	3	OIT3	10	74671483	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	636904	74671483	60863264	10705	18417											
P4HA1	5033	broad.mit.edu	37	chr10	74806855	74806855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagttttttctgtctccgaGgggtctaaacataaagttaa	9	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74806855G>A	ENST00000412021.2	-	9	1238	c.905C>T	c.(904-906)cCt>cTt	p.P302L	P4HA1_ENST00000263556.3_Missense_Mutation_p.P302L|P4HA1_ENST00000373008.2_Missense_Mutation_p.P302L|P4HA1_ENST00000394890.2_Missense_Mutation_p.P302L|P4HA1_ENST00000440381.1_Missense_Mutation_p.P302L|P4HA1_ENST00000307116.2_Missense_Mutation_p.P302L	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	302						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGTCTCCGAGGGGTCTAAAC	0.353													False	0	True	10:74806855	0	A	74806855	G	A	74806855	3	1	88	1	0	0	0	0	1	0	0	0	11424	1000	35	2	806	2	P4HA1	10	74806855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135372	74806855	60727892	10706	18418											
DNAJC9	23234	broad.mit.edu	37	chr10	75006444	75006444	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaacctccagagtcctttAcctttttaaagagtagccgc	7	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75006444A>G	ENST00000372950.4	-	2	1994		c.e2+1			NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9						protein folding		heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					AGAGTCCTTTACCTTTTTAAA	0.448													False	0	True	10:75006444	0	G	75006444	A	G	75006444	5	3	88	1	0	0	0	0	0	0	1	0	4686	405	14	4	475	4	DNAJC9	10	75006444	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	199589	75006444	60528303	10707	18419											
TTC18	118491	broad.mit.edu	37	chr10	75101334	75101334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttaaataaaatgggataGtccttctacagaaatagata	6	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75101334G>A	ENST00000310715.3	-	7	735	c.615C>T	c.(613-615)gaC>gaT	p.D205D	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Silent_p.D205D|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Silent_p.D205D|TTC18_ENST00000340329.3_Silent_p.D205D	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	205							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AAATGGGATAGTCCTTCTACA	0.408													False	0	False	10:75101334	0	A	75101334	G	A	75101334	2	1	88	1	0	0	0	0	0	0	0	1	16769	1020	36	2		2	TTC18	10	75101334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94890	75101334	60433413	10708	18420											
TTC18	118491	broad.mit.edu	37	chr10	75107993	75107993	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgtttgaaatgaactctgtCctgcaaaaagaagcccaagt	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75107993C>A	ENST00000310715.3	-	5	470	c.350G>T	c.(349-351)gGa>gTa	p.G117V	TTC18_ENST00000493787.1_Intron|TTC18_ENST00000394865.1_Splice_Site_p.G117V|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Splice_Site_p.G117V|TTC18_ENST00000340329.3_Splice_Site_p.G117V	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	117				G -> V (in Ref. 1; CAH10391).			binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGAACTCTGTCCTGCAAAAAG	0.443													False	0	False	10:75107993	0	A	75107993	C	A	75107993	5	1	88	1	0	0	0	0	0	0	1	0	16769	869	30	3	3111	3	TTC18	10	75107993	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6659	75107993	60426754	10709	18421											
USP54	159195	broad.mit.edu	37	chr10	75277367	75277367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctgtggggcagatgaCtctggagatagtgatgagtg	17	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75277367C>T	ENST00000339859.4	-	19	2917	c.2817G>A	c.(2815-2817)gaG>gaA	p.E939E	RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_Silent_p.E27E|USP54_ENST00000428547.1_Silent_p.E789E|USP54_ENST00000422491.2_Silent_p.E121E|USP54_ENST00000408019.1_Silent_p.E939E|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	939					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGGCAGATGACTCTGGAGATA	0.517													False	0	False	10:75277367	0	T	75277367	C	T	75277367	2	4	88	1	0	0	0	0	0	0	0	1	17169	564	20	2		2	USP54	10	75277367	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169374	75277367	60257380	10710	18422											
SYNPO2L	79933	broad.mit.edu	37	chr10	75408231	75408231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtctgcgcgctggcgctgCtgttcaaagagctgcacccc	13	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75408231C>A	ENST00000394810.2	-	4	1328	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.Q169H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	393						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCTGGCGCTGCTGTTCAAAGA	0.667													False	0	False	10:75408231	0	A	75408231	C	A	75408231	3	1	88	1	0	0	0	0	1	0	0	0	15540	796	28	3	1758	3	SYNPO2L	10	75408231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130864	75408231	60126516	10711	18423											
SEC24C	9632	broad.mit.edu	37	chr10	75510920	75510920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccagcctcaacagcacaggCtccttgtggccaggctgcat	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75510920C>A	ENST00000339365.2	+	4	389	c.227C>A	c.(226-228)gCt>gAt	p.A76D	SEC24C_ENST00000411652.2_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.A76D|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	76					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					ACAGCACAGGCTCCTTGTGGC	0.517													False	0	False	10:75510920	0	A	75510920	C	A	75510920	3	1	88	1	0	0	0	0	1	0	0	0	14077	797	28	3	233	3	SEC24C	10	75510920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102689	75510920	60023827	10712	18424											
SEC24C	9632	broad.mit.edu	37	chr10	75520113	75520113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccacctatgcactccccGcagcagccaggctatcagcc	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75520113G>A	ENST00000339365.2	+	6	981	c.819G>A	c.(817-819)ccG>ccA	p.P273P	SEC24C_ENST00000411652.2_Silent_p.P131P|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.P273P|SEC24C_ENST00000546025.1_Silent_p.P131P	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	273					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGCACTCCCCGCAGCAGCCAG	0.557													False	0	True	10:75520113	0	A	75520113	G	A	75520113	2	1	88	1	0	0	0	0	0	0	0	1	14077	1074	38	1		1	SEC24C	10	75520113	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9193	75520113	60014634	10713	18425											
SEC24C	9632	broad.mit.edu	37	chr10	75520479	75520479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtctcaggttccttcGgaccagcccggggccctcag	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75520479G>A	ENST00000339365.2	+	7	1021	c.859G>A	c.(859-861)Gga>Aga	p.G287R	SEC24C_ENST00000411652.2_Missense_Mutation_p.G145R|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.G287R|SEC24C_ENST00000546025.1_Missense_Mutation_p.G145R	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	287					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGGTTCCTTCGGACCAGCCCG	0.537													False	0	False	10:75520479	0	A	75520479	G	A	75520479	3	1	88	1	0	0	0	0	1	0	0	0	14077	1117	39	1	877	1	SEC24C	10	75520479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	366	75520479	60014268	10714	18426											
SEC24C	9632	broad.mit.edu	37	chr10	75526270	75526270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatggcttcctggtcaaCgtcaatgagtctcgggcagt	13	10	3	1	rs149206620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75526270C>T	ENST00000339365.2	+	13	1932	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N	SEC24C_ENST00000411652.2_Silent_p.N471N|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Silent_p.N590N|SEC24C_ENST00000546025.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	590					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCCTGGTCAACGTCAATGAGT	0.502													False	0	False	10:75526270	0	T	75526270	C	T	75526270	2	4	88	1	0	0	0	0	0	0	0	1	14077	535	19	1		1	SEC24C	10	75526270	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5791	75526270	60008477	10715	18427											
SEC24C	9632	broad.mit.edu	37	chr10	75528646	75528646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggctttgatgctgtgatgCgggtccggacaagcactggt	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75528646C>T	ENST00000339365.2	+	17	2422	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	SEC24C_ENST00000411652.2_Missense_Mutation_p.R635W|SEC24C_ENST00000535742.1_Missense_Mutation_p.R2W|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000540668.1_Missense_Mutation_p.R2W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R754W	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	754					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGCTGTGATGCGGGTCCGGAC	0.567													False	0	True	10:75528646	0	T	75528646	C	T	75528646	3	4	88	1	0	0	0	0	1	0	0	0	14077	759	27	1	2318	1	SEC24C	10	75528646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2376	75528646	60006101	10716	18428											
SEC24C	9632	broad.mit.edu	37	chr10	75528855	75528855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatggggacaaaacagtgaCtgtggagttcaagcatgacg	14	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75528855C>A	ENST00000339365.2	+	18	2531	c.2369C>A	c.(2368-2370)aCt>aAt	p.T790N	SEC24C_ENST00000411652.2_Missense_Mutation_p.T671N|SEC24C_ENST00000535742.1_Missense_Mutation_p.T38N|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000540668.1_Missense_Mutation_p.T38N|SEC24C_ENST00000345254.4_Missense_Mutation_p.T790N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	790					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AAAACAGTGACTGTGGAGTTC	0.557													False	0	False	10:75528855	0	A	75528855	C	A	75528855	3	1	88	1	0	0	0	0	1	0	0	0	14077	565	20	3	2431	3	SEC24C	10	75528855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209	75528855	60005892	10717	18429											
SEC24C	9632	broad.mit.edu	37	chr10	75529125	75529125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccctgctttacaccagCtgtgcagggcagcgtcggct	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75529125C>A	ENST00000339365.2	+	19	2607	c.2445C>A	c.(2443-2445)agC>agA	p.S815R	SEC24C_ENST00000411652.2_Missense_Mutation_p.S696R|SEC24C_ENST00000535742.1_Missense_Mutation_p.S63R|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000540668.1_Missense_Mutation_p.S63R|SEC24C_ENST00000345254.4_Missense_Mutation_p.S815R	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	815					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTTACACCAGCTGTGCAGGGC	0.537													False	0	False	10:75529125	0	A	75529125	C	A	75529125	3	1	88	1	0	0	0	0	1	0	0	0	14077	796	28	3	2511	3	SEC24C	10	75529125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	270	75529125	60005622	10718	18430											
FUT11	170384	broad.mit.edu	37	chr10	75532151	75532151	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgctcagtgtctgtgcAgccagcggccatgggtccgt	17	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75532151A>G	ENST00000372841.3	+	1	103	c.60A>G	c.(58-60)gcA>gcG	p.A20A	FUT11_ENST00000394790.1_Silent_p.A20A|AC022400.2_ENST00000595757.1_Silent_p.A76A	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	20					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GTGTCTGTGCAGCCAGCGGCC	0.731													False	0	True	10:75532151	0	G	75532151	A	G	75532151	2	3	88	1	0	0	0	0	0	0	0	1	6145	175	7	4		4	FUT11	10	75532151	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3026	75532151	60002596	10719	18431											
PLAU	5328	broad.mit.edu	37	chr10	75671996	75671996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtgactgtctaaatggaGgaacatgtgtgtccaacaag	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75671996G>A	ENST00000446342.1	+	3	540	c.58G>A	c.(58-60)Gga>Aga	p.G20R	C10orf55_ENST00000409178.1_Missense_Mutation_p.L3F|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.G37R|C10orf55_ENST00000412307.2_Missense_Mutation_p.L3F	NM_001145031.1	NP_001138503	P00749	UROK_HUMAN	plasminogen activator, urokinase	37					blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	TCTAAATGGAGGAACATGTGT	0.537													False	0	False	10:75671996	0	A	75671996	G	A	75671996	3	1	88	1	0	0	0	0	1	0	0	0	12091	1001	35	2	157	2	PLAU	10	75671996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139845	75671996	59862751	10720	18432											
PLAU	5328	broad.mit.edu	37	chr10	75673487	75673487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcctcatcagcccttgCtgggtgatcagcgccacaca	11	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75673487C>T	ENST00000446342.1	+	6	1082	c.600C>T	c.(598-600)tgC>tgT	p.C200C	C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Silent_p.C181C|PLAU_ENST00000372764.3_Silent_p.C217C|C10orf55_ENST00000412307.2_Intron	NM_001145031.1	NP_001138503	P00749	UROK_HUMAN	plasminogen activator, urokinase	217	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	TCAGCCCTTGCTGGGTGATCA	0.607													False	0	False	10:75673487	0	T	75673487	C	T	75673487	2	4	88	1	0	0	0	0	0	0	0	1	12091	805	28	2		2	PLAU	10	75673487	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1491	75673487	59861260	10721	18433											
VCL	7414	broad.mit.edu	37	chr10	75863594	75863594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtggtctcggctgctcGtatcttacttaggaaccctg	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75863594G>A	ENST00000211998.4	+	15	2133	c.2039G>A	c.(2038-2040)cGt>cAt	p.R680H	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.R680H|VCL_ENST00000478896.2_3'UTR	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	680	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TCGGCTGCTCGTATCTTACTT	0.433													False	0	False	10:75863594	0	A	75863594	G	A	75863594	3	1	88	1	0	0	0	0	1	0	0	0	17223	1145	40	1	2097	1	VCL	10	75863594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190107	75863594	59671153	10722	18434											
AP3M1	26985	broad.mit.edu	37	chr10	75893913	75893913	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggagtgtgtccccaacaTtactactgcctagaaaccaa	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75893913T>C	ENST00000355264.4	-	4	766	c.455A>G	c.(454-456)aAt>aGt	p.N152S	AP3M1_ENST00000372745.1_Missense_Mutation_p.N152S	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	152					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GTCCCCAACATTACTACTGCC	0.418													False	0	False	10:75893913	0	C	75893913	T	C	75893913	3	2	88	1	0	0	0	0	1	0	0	0	749	1493	52	4	825	4	AP3M1	10	75893913	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30319	75893913	59640834	10723	18435											
DUPD1	338599	broad.mit.edu	37	chr10	76803669	76803669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtactggatgtccatgtCgcggtagtagtcgggcccag	16	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76803669C>T	ENST00000338487.5	-	2	306	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	103	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ATGTCCATGTCGCGGTAGTAG	0.657													False	0	False	10:76803669	0	T	76803669	C	T	76803669	3	4	88	1	0	0	0	0	1	0	0	0	4834	884	31	1	363	1	DUPD1	10	76803669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	909756	76803669	58731078	10724	18436											
DUSP13	0	broad.mit.edu	37	chr10	76854490	76854490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaacctggagctgccggaGgaagcctgagttagggcaga	16	9	0	3	rs148360130		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76854490G>T	ENST00000491677.2	-	8	1470	c.928C>A	c.(928-930)Ctc>Atc	p.L310I	DUSP13_ENST00000372700.3_Missense_Mutation_p.L231I|DUSP13_ENST00000464872.1_Missense_Mutation_p.L130I|DUSP13_ENST00000605915.1_Missense_Mutation_p.L203I|DUSP13_ENST00000478873.2_Missense_Mutation_p.L317I|DUSP13_ENST00000472493.2_Missense_Mutation_p.L181I|DUSP13_ENST00000607131.1_Missense_Mutation_p.L274I|DUSP13_ENST00000372702.3_3'UTR	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	172						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCTGCCGGAGGAAGCCTGAG	0.622													False	0	False	10:76854490	0	T	76854490	G	T	76854490	3	4	88	1	0	0	0	0	1	0	0	0	4843	1000	35	3	59	3	DUSP13	10	76854490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50821	76854490	58680257	10725	18437											
DUSP13	0	broad.mit.edu	37	chr10	76867809	76867809	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagaagtaggcactgAtgtcaaaatcagggaggtcg	15	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76867809A>C	ENST00000372702.3	-	2	371	c.308T>G	c.(307-309)aTc>aGc	p.I103S	DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607131.1_Intron|DUSP13_ENST00000607009.1_5'UTR			Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	103	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTAGGCACTGATGTCAAAATC	0.607													False	0	False	10:76867809	0	C	76867809	A	C	76867809	3	2	88	1	0	0	0	0	1	0	0	0	4843	333	12	4	1162	4	DUSP13	10	76867809	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13319	76867809	58666938	10726	18438											
SAMD8	142891	broad.mit.edu	37	chr10	76928312	76928312	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttacaggtcaatacttctgCgaaggctctgtagtctgatg	11	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76928312C>T	ENST00000372687.4	+	4	773	c.688C>T	c.(688-690)Cga>Tga	p.R230*	SAMD8_ENST00000372690.3_Nonsense_Mutation_p.R293*|SAMD8_ENST00000542569.1_Nonsense_Mutation_p.R230*			Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AATACTTCTGCGAAGGCTCTG	0.453													False	0	False	10:76928312	0	T	76928312	C	T	76928312	4	4	88	1	0	0	0	0	0	1	0	0	13904	760	27	1	698	1	SAMD8	10	76928312	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60503	76928312	58606435	10727	18439											
SAMD8	142891	broad.mit.edu	37	chr10	76936003	76936003	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttttagtgcttctatgcgTattaggtaactagctgcagt	9	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76936003T>C	ENST00000372687.4	+	5	1057	c.972T>C	c.(970-972)cgT>cgC	p.R324R	SAMD8_ENST00000372690.3_Intron|SAMD8_ENST00000542569.1_Intron			Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTTCTATGCGTATTAGGTAAC	0.443													False	0	False	10:76936003	0	C	76936003	T	C	76936003	2	2	88	1	0	0	0	0	0	0	0	1	13904	1625	57	4		4	SAMD8	10	76936003	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7691	76936003	58598744	10728	18440											
KCNMA1	3778	broad.mit.edu	37	chr10	78647147	78647147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcttgctggaggactgCgacgagtgggaggaatggga	17	7	2	0	rs75138661		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78647147C>T	ENST00000286627.5	-	27	4366	c.3414G>A	c.(3412-3414)tcG>tcA	p.S1138S	KCNMA1_ENST00000286628.8_Silent_p.S1196S|KCNMA1_ENST00000406533.3_Silent_p.S1200S|KCNMA1_ENST00000354353.5_Silent_p.S1199S|KCNMA1_ENST00000404857.1_Silent_p.S1179S|KCNMA1_ENST00000372440.1_Silent_p.S1138S|KCNMA1_ENST00000404771.3_Silent_p.S1196S|KCNMA1_ENST00000372443.1_Silent_p.S1165S	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1196					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGGAGGACTGCGACGAGTGGG	0.582													False	0	False	10:78647147	0	T	78647147	C	T	78647147	2	4	88	1	0	0	0	0	0	0	0	1	8123	755	27	1		1	KCNMA1	10	78647147	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1711144	78647147	56887600	10729	18441											
KCNMA1	3778	broad.mit.edu	37	chr10	78651348	78651348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcagcggtccctattggCcagtgtctgcggggtgctgt	17	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78651348C>T	ENST00000286627.5	-	25	4055	c.3103G>A	c.(3103-3105)Gcc>Acc	p.A1035T	RP11-443A13.5_ENST00000609102.1_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.A1093T|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1097T|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1096T|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1076T|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A1035T|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1093T|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1062T	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1093	Segment S10.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCCCTATTGGCCAGTGTCTGC	0.627													False	0	False	10:78651348	0	T	78651348	C	T	78651348	3	4	88	1	0	0	0	0	1	0	0	0	8123	739	26	2	474	2	KCNMA1	10	78651348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4201	78651348	56883399	10730	18442											
KCNMA1	3778	broad.mit.edu	37	chr10	78943289	78943289	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttatcgttggctgcaataAactgggggaaagaagaaata	11	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78943289A>G	ENST00000286627.5	-	5	1650	c.698T>C	c.(697-699)tTt>tCt	p.F233S	KCNMA1_ENST00000286628.8_Splice_Site_p.F233S|KCNMA1_ENST00000406533.3_Splice_Site_p.F233S|KCNMA1_ENST00000354353.5_Splice_Site_p.F233S|KCNMA1_ENST00000404857.1_Splice_Site_p.F233S|KCNMA1_ENST00000372440.1_Splice_Site_p.F233S|KCNMA1_ENST00000404771.3_Splice_Site_p.F233S|KCNMA1_ENST00000372443.1_Splice_Site_p.F233S	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	233					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GGCTGCAATAAACTGGGGGAA	0.418													False	0	True	10:78943289	0	G	78943289	A	G	78943289	5	3	88	1	0	0	0	0	0	0	1	0	8123	28	1	4	3280	4	KCNMA1	10	78943289	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	291941	78943289	56591458	10731	18443											
KCNMA1	3778	broad.mit.edu	37	chr10	78944632	78944632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagccatgtcgatctgTaatgtgaaatctttgtagaa	9	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78944632T>C	ENST00000286627.5	-	4	1597	c.645A>G	c.(643-645)ttA>ttG	p.L215L	KCNMA1_ENST00000286628.8_Silent_p.L215L|KCNMA1_ENST00000406533.3_Silent_p.L215L|KCNMA1_ENST00000354353.5_Silent_p.L215L|KCNMA1_ENST00000404857.1_Silent_p.L215L|KCNMA1_ENST00000372440.1_Silent_p.L215L|KCNMA1_ENST00000404771.3_Silent_p.L215L|KCNMA1_ENST00000372443.1_Silent_p.L215L	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	215					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGTCGATCTGTAATGTGAAAT	0.413													False	0	False	10:78944632	0	C	78944632	T	C	78944632	2	2	88	1	0	0	0	0	0	0	0	1	8123	1635	57	4		4	KCNMA1	10	78944632	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1343	78944632	56590115	10732	18444											
DLG5	9231	broad.mit.edu	37	chr10	79613246	79613246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgcctcagcatgtccaCgtcatccttcagccgagtct	7	18	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:79613246C>T	ENST00000372391.2	-	5	735	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	DLG5_ENST00000372388.2_Missense_Mutation_p.V244M	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	244					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGCATGTCCACGTCATCCTTC	0.627													False	0	False	10:79613246	0	T	79613246	C	T	79613246	3	4	88	1	0	0	0	0	1	0	0	0	4588	536	19	1	5141	1	DLG5	10	79613246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	668614	79613246	55921501	10733	18445											
ZMIZ1	57178	broad.mit.edu	37	chr10	81037008	81037008	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagaagagccgccagagCgatccccctgggaaactccc	10	16	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81037008C>T	ENST00000334512.5	+	8	923	c.351C>T	c.(349-351)agC>agT	p.S117S	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	117					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCCGCCAGAGCGATCCCCCTG	0.622													False	0	False	10:81037008	0	T	81037008	C	T	81037008	2	4	88	1	0	0	0	0	0	0	0	1	17779	767	27	1		1	ZMIZ1	10	81037008	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1423762	81037008	54497739	10734	18446											
ZCCHC24	219654	broad.mit.edu	37	chr10	81192458	81192458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggagctgaggccatcggcGatgttgttgagggagccata	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81192458G>A	ENST00000372333.3	-	2	174	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	ZCCHC24_ENST00000372336.3_Silent_p.I101I			Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	21							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GGCCATCGGCGATGTTGTTGA	0.617													False	0	False	10:81192458	0	A	81192458	G	A	81192458	3	1	88	1	0	0	0	0	1	0	0	0	17671	1048	37	1	434	1	ZCCHC24	10	81192458	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155450	81192458	54342289	10735	18447											
EIF5AL1	143244	broad.mit.edu	37	chr10	81272742	81272742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaggtaccagaggaccttCgtctccctgagggagacctt	14	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81272742C>T	ENST00000520547.2	+	1	386	c.337C>T	c.(337-339)Cgt>Tgt	p.R113C		NM_001099692.1	NP_001093162.1	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like 1	113					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGAGGACCTTCGTCTCCCTGA	0.552													False	0	False	10:81272742	0	T	81272742	C	T	81272742	3	4	88	1	0	0	0	0	1	0	0	0	5075	884	31	1	339	1	EIF5AL1	10	81272742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80284	81272742	54262005	10736	18448											
SFTPA1	653509	broad.mit.edu	37	chr10	81371565	81371565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccctcctgcaggagcagCgactggacccagagccatgt	11	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81371565C>T	ENST00000419470.2	+	3	105	c.29C>T	c.(28-30)gCg>gTg	p.A10V	SFTPA1_ENST00000398636.3_5'UTR|SFTPA1_ENST00000372308.3_5'UTR|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000428376.2_5'UTR			Q8IWL2	SFTA1_HUMAN	surfactant protein A1	0					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GCAGGAGCAGCGACTGGACCC	0.612													False	0	False	10:81371565	0	T	81371565	C	T	81371565	3	4	88	1	0	0	0	0	1	0	0	0	14270	768	27	1	35	1	SFTPA1	10	81371565	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98823	81371565	54163182	10737	18449											
SFTPA1	653509	broad.mit.edu	37	chr10	81372118	81372118	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcctggaaatgatgggCtgcctggagcccctggtatc	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81372118C>T	ENST00000398636.3	+	4	361	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	SFTPA1_ENST00000419470.2_Silent_p.L90L|SFTPA1_ENST00000372308.3_Silent_p.L75L|SFTPA1_ENST00000372313.5_Silent_p.L16L|SFTPA1_ENST00000428376.2_Silent_p.L75L	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	75	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AAATGATGGGCTGCCTGGAGC	0.607													False	0	True	10:81372118	0	T	81372118	C	T	81372118	2	4	88	1	0	0	0	0	0	0	0	1	14270	796	28	2		2	SFTPA1	10	81372118	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	553	81372118	54162629	10738	18450											
SFTPD	6441	broad.mit.edu	37	chr10	81702155	81702155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccacctacctttgggcccaGcttctccttttgggcctggc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81702155G>T	ENST00000372292.3	-	4	462	c.422C>A	c.(421-423)gCt>gAt	p.A141D		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	141	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TTTGGGCCCAGCTTCTCCTTT	0.607													False	0	False	10:81702155	0	T	81702155	G	T	81702155	3	4	88	1	0	0	0	0	1	0	0	0	14274	971	34	3	725	3	SFTPD	10	81702155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330037	81702155	53832592	10739	18451											
ANXA11	311	broad.mit.edu	37	chr10	81932582	81932582	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgcagctggtgggtaGccacctgggggcgggggata	20	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81932582G>T	ENST00000438331.1	-	4	518	c.36C>A	c.(34-36)ggC>ggA	p.G12G	ANXA11_ENST00000535999.1_Silent_p.G12G|ANXA11_ENST00000360615.4_Silent_p.G12G|ANXA11_ENST00000422982.3_Silent_p.G12G|ANXA11_ENST00000372231.3_Silent_p.G12G|ANXA11_ENST00000265447.4_Silent_p.G12G|ANXA11_ENST00000537102.1_5'UTR	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	12					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CTGGTGGGTAGCCACCTGGGG	0.597													False	0	False	10:81932582	0	T	81932582	G	T	81932582	2	4	88	1	0	0	0	0	0	0	0	1	716	958	34	3		3	ANXA11	10	81932582	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230427	81932582	53602165	10740	18452											
SH2D4B	387694	broad.mit.edu	37	chr10	82331321	82331321	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcctggaggaacgcatccAcgaggaattcaaggtgggcc	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:82331321A>C	ENST00000339284.2	+	3	912	c.482A>C	c.(481-483)cAc>cCc	p.H161P	SH2D4B_ENST00000470604.2_Missense_Mutation_p.H160P|SH2D4B_ENST00000313455.4_Missense_Mutation_p.H112P	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	160	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GAACGCATCCACGAGGAATTC	0.592													False	0	False	10:82331321	0	C	82331321	A	C	82331321	3	2	88	1	0	0	0	0	1	0	0	0	14317	159	6	4	533	4	SH2D4B	10	82331321	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	398739	82331321	53203426	10741	18453											
GHITM	27069	broad.mit.edu	37	chr10	85901277	85901277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttggctgcaaggctggtGtgtctccggacactaccttc	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85901277G>A	ENST00000372134.3	+	2	214	c.21G>A	c.(19-21)gtG>gtA	p.V7V		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	7					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CAAGGCTGGTGTGTCTCCGGA	0.468													False	0	True	10:85901277	0	A	85901277	G	A	85901277	2	1	88	1	0	0	0	0	0	0	0	1	6415	1364	48	2		2	GHITM	10	85901277	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3569956	85901277	49633470	10742	18454											
CDHR1	92211	broad.mit.edu	37	chr10	85955302	85955302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggggtcggcagcaccaaCggaaacatggctctgttcag	13	11	2	0	rs143674495		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85955302C>T	ENST00000372117.3	+	2	211	c.108C>T	c.(106-108)aaC>aaT	p.N36N	CDHR1_ENST00000332904.3_Silent_p.N36N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	36	Cadherin 1.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GCAGCACCAACGGAAACATGG	0.597													False	0	False	10:85955302	0	T	85955302	C	T	85955302	2	4	88	1	0	0	0	0	0	0	0	1	3141	535	19	1		1	CDHR1	10	85955302	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54025	85955302	49579445	10743	18455											
CDHR1	92211	broad.mit.edu	37	chr10	85973961	85973961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactgtcctcatctccaccGccaccttctggcgcaacaag	6	18	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85973961G>A	ENST00000372117.3	+	17	2267	c.2164G>A	c.(2164-2166)Gcc>Acc	p.A722T	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.A426T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	722					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CATCTCCACCGCCACCTTCTG	0.637													False	0	False	10:85973961	0	A	85973961	G	A	85973961	3	1	88	1	0	0	0	0	1	0	0	0	3141	1087	38	1	2230	1	CDHR1	10	85973961	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18659	85973961	49560786	10744	18456											
CDHR1	92211	broad.mit.edu	37	chr10	85974159	85974159	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcccagaaagctctctgCtcccgagagctccggctctc	9	17	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85974159C>A	ENST00000372117.3	+	17	2465	c.2362C>A	c.(2362-2364)Ctc>Atc	p.L788I	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.L492I	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	788	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AAGCTCTCTGCTCCCGAGAGC	0.592													False	0	False	10:85974159	0	A	85974159	C	A	85974159	3	1	88	1	0	0	0	0	1	0	0	0	3141	797	28	3	2428	3	CDHR1	10	85974159	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	85974159	49560588	10745	18457											
CDHR1	92211	broad.mit.edu	37	chr10	85974198	85974198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctccaccacccagcgtgGcgcccagcactggcgcagcc	10	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85974198G>A	ENST00000372117.3	+	17	2504	c.2401G>A	c.(2401-2403)Gcg>Acg	p.A801T	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.A505T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	801	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCCAGCGTGGCGCCCAGCAC	0.602													False	0	False	10:85974198	0	A	85974198	G	A	85974198	3	1	88	1	0	0	0	0	1	0	0	0	3141	1203	42	2	2467	2	CDHR1	10	85974198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	85974198	49560549	10746	18458											
LRIT2	340745	broad.mit.edu	37	chr10	85984832	85984832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcttcagaaaggttcccaGggatctttcccaaggagaca	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85984832G>A	ENST00000372113.4	-	2	154	c.149C>T	c.(148-150)cCt>cTt	p.P50L	LRIT2_ENST00000538192.1_Missense_Mutation_p.P50L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	50	LRRNT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AAGGTTCCCAGGGATCTTTCC	0.453													False	0	True	10:85984832	0	A	85984832	G	A	85984832	3	1	88	1	0	0	0	0	1	0	0	0	9010	1000	35	2	1511	2	LRIT2	10	85984832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10634	85984832	49549915	10747	18459											
LRIT1	26103	broad.mit.edu	37	chr10	85997326	85997326	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctccaggcggcccaggggcCtgaaggcctcgccaggaacc	15	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85997326C>A	ENST00000372105.3	-	2	260	c.239G>T	c.(238-240)aGg>aTg	p.R80M		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	80						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCCAGGGGCCTGAAGGCCTC	0.721													False	0	False	10:85997326	0	A	85997326	C	A	85997326	3	1	88	1	0	0	0	0	1	0	0	0	9009	681	24	3	1644	3	LRIT1	10	85997326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12494	85997326	49537421	10748	18460											
RGR	5995	broad.mit.edu	37	chr10	86012754	86012754	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgctgcaccctggactactCcaagggggacaggtgaggtg	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:86012754C>A	ENST00000359452.4	+	4	550	c.512C>A	c.(511-513)tCc>tAc	p.S171Y	RGR_ENST00000358110.5_Missense_Mutation_p.S167Y	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	167					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGGACTACTCCAAGGGGGAC	0.577													False	0	False	10:86012754	0	A	86012754	C	A	86012754	3	1	88	1	0	0	0	0	1	0	0	0	13370	855	30	3	526	3	RGR	10	86012754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15428	86012754	49521993	10749	18461											
GRID1	2894	broad.mit.edu	37	chr10	87373312	87373312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgccgtcggcctgggcgCtggcatggctggtgaggtca	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87373312C>T	ENST00000327946.7	-	15	2538	c.2453G>A	c.(2452-2454)aGc>aAc	p.S818N	GRID1_ENST00000536331.1_Missense_Mutation_p.S389N	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	818						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGCCTGGGCGCTGGCATGGCT	0.647										Multiple Myeloma(13;0.14)			False	0	False	10:87373312	0	T	87373312	C	T	87373312	3	4	88	1	0	0	0	0	1	0	0	0	6818	797	28	2	584	2	GRID1	10	87373312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1360558	87373312	48161435	10750	18462											
GRID1	2894	broad.mit.edu	37	chr10	87379700	87379700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctgctgatgctgttgcCgatgacagtcaccgagcagt	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87379700C>T	ENST00000327946.7	-	14	2369	c.2284G>A	c.(2284-2286)Ggc>Agc	p.G762S	GRID1_ENST00000536331.1_Missense_Mutation_p.G333S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	762						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ATGCTGTTGCCGATGACAGTC	0.582										Multiple Myeloma(13;0.14)			False	0	False	10:87379700	0	T	87379700	C	T	87379700	3	4	88	1	0	0	0	0	1	0	0	0	6818	652	23	1	757	1	GRID1	10	87379700	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6388	87379700	48155047	10751	18463											
GRID1	2894	broad.mit.edu	37	chr10	87482893	87482893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggagttcacggaagattCgccacctgcgggaggcagac	14	11	1	2	rs148165863		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87482893C>T	ENST00000327946.7	-	12	1949	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	GRID1_ENST00000536331.1_Missense_Mutation_p.E193K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	622						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ACGGAAGATTCGCCACCTGCG	0.602										Multiple Myeloma(13;0.14)			False	0	False	10:87482893	0	T	87482893	C	T	87482893	3	4	88	1	0	0	0	0	1	0	0	0	6818	893	31	1	1185	1	GRID1	10	87482893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103193	87482893	48051854	10752	18464											
GRID1	2894	broad.mit.edu	37	chr10	88123711	88123711	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactcaccttcctgcacagcCtggaatgggttgttggcctc	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88123711C>A	ENST00000327946.7	-	2	307	c.222G>T	c.(220-222)caG>caT	p.Q74H		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	74						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCTGCACAGCCTGGAATGGGT	0.627										Multiple Myeloma(13;0.14)			False	0	False	10:88123711	0	A	88123711	C	A	88123711	3	1	88	1	0	0	0	0	1	0	0	0	6818	680	24	3	2867	3	GRID1	10	88123711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	640818	88123711	47411036	10753	18465											
WAPAL	23063	broad.mit.edu	37	chr10	88211754	88211754	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctggacagcatgaacttgTccacctatccttaaactatc	6	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88211754T>C	ENST00000298767.5	-	15	3556	c.3084A>G	c.(3082-3084)ggA>ggG	p.G1028G	WAPAL_ENST00000263070.7_Intron|WAPAL_ENST00000372075.1_Intron	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1028	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CATGAACTTGTCCACCTATCC	0.408													False	0	False	10:88211754	0	C	88211754	T	C	88211754	2	2	88	1	0	0	0	0	0	0	0	1	17332	1654	58	4		4	WAPAL	10	88211754	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88043	88211754	47322993	10754	18466											
OPN4	94233	broad.mit.edu	37	chr10	88419688	88419688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcctgcaagggcaatggCgagtccctgtggcagcggca	18	11	0	0	rs141316756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88419688C>T	ENST00000372071.2	+	7	1097	c.870C>T	c.(868-870)ggC>ggT	p.G290G	OPN4_ENST00000241891.5_Silent_p.G279G	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	279					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						AGGGCAATGGCGAGTCCCTGT	0.632													False	0	False	10:88419688	0	T	88419688	C	T	88419688	2	4	88	1	0	0	0	0	0	0	0	1	10950	755	27	1		1	OPN4	10	88419688	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207934	88419688	47115059	10755	18467											
LDB3	11155	broad.mit.edu	37	chr10	88452318	88452318	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgatgaagaagctctgCgaaggtcaaggtaagtgcct	12	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88452318C>T	ENST00000429277.2	+	8	1235	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	LDB3_ENST00000372056.4_Nonsense_Mutation_p.R364*|LDB3_ENST00000263066.6_Nonsense_Mutation_p.R249*|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000458213.2_Nonsense_Mutation_p.R249*|LDB3_ENST00000310944.6_Nonsense_Mutation_p.R296*|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000361373.4_Nonsense_Mutation_p.R296*|LDB3_ENST00000372066.3_Nonsense_Mutation_p.R249*	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	361						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGAAGCTCTGCGAAGGTCAAG	0.607													False	0	False	10:88452318	0	T	88452318	C	T	88452318	4	4	88	1	0	0	0	0	0	1	0	0	8748	760	27	1	1143	1	LDB3	10	88452318	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32630	88452318	47082429	10756	18468											
BMPR1A	657	broad.mit.edu	37	chr10	88635777	88635777	+	Translation_Start_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacattacaattgaacaaTgcctcagctatacatttaca	4	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88635777T>C	ENST00000372037.3	+	3	539	c.2T>C	c.(1-3)aTg>aCg	p.M1T	BMPR1A_ENST00000480152.1_3'UTR	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA						BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AATTGAACAATGCCTCAGCTA	0.328			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				False	0	False	10:88635777	0	C	88635777	T	C	88635777	1	2	88	1	0	0	0	0	0	0	0	0	1474	1464	51	4		4	BMPR1A	10	88635777	Translation_Start_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	183459	88635777	46898970	10757	18469											
BMPR1A	657	broad.mit.edu	37	chr10	88659555	88659555	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attactcttcttttaggattCtccaaaagcccagctacgcc	5	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88659555C>A	ENST00000372037.3	+	6	875	c.338C>A	c.(337-339)tCt>tAt	p.S113Y		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA						BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						TTTTAGGATTCTCCAAAAGCC	0.353			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				False	0	False	10:88659555	0	A	88659555	C	A	88659555	3	1	88	1	0	0	0	0	1	0	0	0	1474	913	32	3	352	3	BMPR1A	10	88659555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23778	88659555	46875192	10758	18470											
MMRN2	79812	broad.mit.edu	37	chr10	88696774	88696774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggggctcggaagtagccaTgttcagggaagtagctgctg	16	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88696774T>C	ENST00000372027.5	-	7	2897	c.2576A>G	c.(2575-2577)cAt>cGt	p.H859R		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2		C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GAAGTAGCCATGTTCAGGGAA	0.562													False	0	False	10:88696774	0	C	88696774	T	C	88696774	3	2	88	1	0	0	0	0	1	0	0	0	9738	1464	51	4	277	4	MMRN2	10	88696774	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37219	88696774	46837973	10759	18471											
MMRN2	79812	broad.mit.edu	37	chr10	88702615	88702615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcccgctagcggcgtcCtgcagggccacgcggatctg	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88702615C>A	ENST00000372027.5	-	6	2247	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2							extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TAGCGGCGTCCTGCAGGGCCA	0.741													False	0	False	10:88702615	0	A	88702615	C	A	88702615	3	1	88	1	0	0	0	0	1	0	0	0	9738	680	24	3	931	3	MMRN2	10	88702615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5841	88702615	46832132	10760	18472											
MMRN2	79812	broad.mit.edu	37	chr10	88703517	88703517	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctggggcctcctgagcctTgtgcagcctcttcaatttgg	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88703517T>G	ENST00000372027.5	-	6	1345	c.1024A>C	c.(1024-1026)Aag>Cag	p.K342Q		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2							extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCTGAGCCTTGTGCAGCCTC	0.647													False	0	False	10:88703517	0	G	88703517	T	G	88703517	3	3	88	1	0	0	0	0	1	0	0	0	9738	1821	63	4	1833	4	MMRN2	10	88703517	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	902	88703517	46831230	10761	18473											
MMRN2	79812	broad.mit.edu	37	chr10	88703541	88703541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcctcttcaatttggtgtCcacatcggcttggagctctg	10	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88703541C>T	ENST00000372027.5	-	6	1321	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2							extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AATTTGGTGTCCACATCGGCT	0.632													False	0	False	10:88703541	0	T	88703541	C	T	88703541	3	4	88	1	0	0	0	0	1	0	0	0	9738	855	30	2	1857	2	MMRN2	10	88703541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24	88703541	46831206	10762	18474											
AGAP11	119385	broad.mit.edu	37	chr10	88768262	88768262	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccacgcccatttgcaagCagtccatgggctggtccaac	9	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88768262C>T	ENST00000444431.1	+	0	2862				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CATTTGCAAGCAGTCCATGGG	0.547													False	0	False	10:88768262	0	T	88768262	C	T	88768262	1	4	88	0	1	0	0	0	0	0	0	0	367	711	25	2		2	AGAP11	10	88768262	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64721	88768262	46766485	10763	18475											
AGAP11	119385	broad.mit.edu	37	chr10	88769136	88769136	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgcagtcttggcacccGcctttcccgtgtgcgatctc	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88769136G>A	ENST00000444431.1	+	0	3736				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTTGGCACCCGCCTTTCCCGT	0.522													False	0	True	10:88769136	0	A	88769136	G	A	88769136	1	1	88	0	1	0	0	0	0	0	0	0	367	1087	38	1		1	AGAP11	10	88769136	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	874	88769136	46765611	10764	18476											
FAM35A	54537	broad.mit.edu	37	chr10	88930603	88930603	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttccttttccagaggcagTatacagttatagaggacaga	9	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88930603T>C	ENST00000298786.4	+	6	1949	c.1835T>C	c.(1834-1836)gTa>gCa	p.V612A	FAM35A_ENST00000298784.1_Missense_Mutation_p.V612A			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	612										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CCAGAGGCAGTATACAGTTAT	0.393													False	0	False	10:88930603	0	C	88930603	T	C	88930603	3	2	88	1	0	0	0	0	1	0	0	0	5593	1638	57	4	1849	4	FAM35A	10	88930603	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	161467	88930603	46604144	10765	18477											
FAM35A	54537	broad.mit.edu	37	chr10	88940025	88940025	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctacaaacaatgttttagCtgcttgccatttactatgaa	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88940025C>T	ENST00000298786.4	+	8	2478	c.2364C>T	c.(2362-2364)agC>agT	p.S788S	FAM35A_ENST00000298784.1_Silent_p.S719S			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	719										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AATGTTTTAGCTGCTTGCCAT	0.323													False	0	False	10:88940025	0	T	88940025	C	T	88940025	2	4	88	1	0	0	0	0	0	0	0	1	5593	796	28	2		2	FAM35A	10	88940025	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9422	88940025	46594722	10766	18478											
FAM35A	54537	broad.mit.edu	37	chr10	88946903	88946903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatccgtgtagaatcaaagCtgatagagaagattcttctc	9	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88946903C>T	ENST00000298786.4	+	9	2575	c.2461C>T	c.(2461-2463)Ctg>Ttg	p.L821L	FAM35A_ENST00000298784.1_Silent_p.L752L			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	752										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AGAATCAAAGCTGATAGAGAA	0.383													False	0	False	10:88946903	0	T	88946903	C	T	88946903	2	4	88	1	0	0	0	0	0	0	0	1	5593	796	28	2		2	FAM35A	10	88946903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6878	88946903	46587844	10767	18479											
PAPSS2	9060	broad.mit.edu	37	chr10	89473032	89473032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgctgatgctggtctgGtctgcattaccagctttatt	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89473032G>A	ENST00000361175.4	+	3	715	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V116I|PAPSS2_ENST00000427144.2_Missense_Mutation_p.V120I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	116					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGCTGGTCTGGTCTGCATTAC	0.448													False	0	True	10:89473032	0	A	89473032	G	A	89473032	3	1	88	1	0	0	0	0	1	0	0	0	11503	1261	44	2	356	2	PAPSS2	10	89473032	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	526129	89473032	46061715	10768	18480											
PAPSS2	9060	broad.mit.edu	37	chr10	89487110	89487110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggataagacacggctggaagGgtgcagcaagtttgtcctgg	16	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89487110G>A	ENST00000361175.4	+	8	1304	c.935G>A	c.(934-936)gGg>gAg	p.G312E	PAPSS2_ENST00000456849.1_Missense_Mutation_p.G317E|PAPSS2_ENST00000427144.2_Missense_Mutation_p.G316E	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	312					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CGGCTGGAAGGGTGCAGCAAG	0.512													False	0	True	10:89487110	0	A	89487110	G	A	89487110	3	1	88	1	0	0	0	0	1	0	0	0	11503	1232	43	2	984	2	PAPSS2	10	89487110	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14078	89487110	46047637	10769	18481											
PAPSS2	9060	broad.mit.edu	37	chr10	89501117	89501118	+	Frame_Shift_Ins	INS	-	-	CATTGTT													tcaaacagaaatgtaaagaaINSatgaatgctggtatgtaaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89501117_89501118insCATTGTT	ENST00000361175.4	+	9	1566_1567	c.1197_1198insCATTGTT	c.(1198-1200)atgfs	p.M400fs	PAPSS2_ENST00000427144.2_Frame_Shift_Ins_p.M404fs|PAPSS2_ENST00000456849.1_Frame_Shift_Ins_p.M405fs	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	400					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AATGTAAAGAAATGAATGCTGG	0.426													False	0	True	10:89501117	0	CATTGTT	89501118	-	CATTGTT	89501117	7	5	88	1	0	1	1	0	0	0	0	0	11503	11	1	0	1250	0	PAPSS2	10	89501117	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	14007	89501117	46033630	10770	18482											
RNLS	55328	broad.mit.edu	37	chr10	90122337	90122337	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgcttcttattatcaatggaGacgaagcgtatgcagggatt	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90122337G>T	ENST00000371947.3	-	5	2011	c.672C>A	c.(670-672)gtC>gtA	p.V224V	RNLS_ENST00000437752.1_Silent_p.V141V|RNLS_ENST00000331772.4_Silent_p.V224V|RNLS_ENST00000466945.1_5'UTR	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	224						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TATCAATGGAGACGAAGCGTA	0.433													False	0	False	10:90122337	0	T	90122337	G	T	90122337	2	4	88	1	0	0	0	0	0	0	0	1	13584	929	33	3		3	RNLS	10	90122337	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	621220	90122337	45412410	10771	18483											
LIPJ	142910	broad.mit.edu	37	chr10	90356605	90356605	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttaaaaaattcattggttCaaagctgtgtccactacaga	6	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90356605C>T	ENST00000371939.3	+	8	949	c.635C>T	c.(634-636)tCa>tTa	p.S212L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	212					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTCATTGGTTCAAAGCTGTGT	0.308													False	0	True	10:90356605	0	T	90356605	C	T	90356605	3	4	88	1	0	0	0	0	1	0	0	0	8879	838	29	2	657	2	LIPJ	10	90356605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	234268	90356605	45178142	10772	18484											
LIPF	8513	broad.mit.edu	37	chr10	90429617	90429617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaaatggctaaatatgAccttccagccacaatcgact	7	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90429617A>G	ENST00000394375.3	+	6	589	c.476A>G	c.(475-477)gAc>gGc	p.D159G	LIPF_ENST00000355843.2_Missense_Mutation_p.D126G|LIPF_ENST00000608620.1_Missense_Mutation_p.D116G|LIPF_ENST00000238983.4_Missense_Mutation_p.D149G	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	149					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GCTAAATATGACCTTCCAGCC	0.378													False	0	False	10:90429617	0	G	90429617	A	G	90429617	3	3	88	1	0	0	0	0	1	0	0	0	8875	275	10	4	460	4	LIPF	10	90429617	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73012	90429617	45105130	10773	18485											
LIPF	8513	broad.mit.edu	37	chr10	90433384	90433384	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattctacccacacaacttcTttgatcaatttcttgctact	2	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90433384T>G	ENST00000394375.3	+	8	852	c.739T>G	c.(739-741)Ttt>Gtt	p.F247V	LIPF_ENST00000355843.2_Missense_Mutation_p.F214V|LIPF_ENST00000608620.1_Missense_Mutation_p.F204V|LIPF_ENST00000238983.4_Missense_Mutation_p.F237V	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	237					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ACACAACTTCTTTGATCAATT	0.368													False	0	True	10:90433384	0	G	90433384	T	G	90433384	3	3	88	1	0	0	0	0	1	0	0	0	8875	1609	56	4	731	4	LIPF	10	90433384	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3767	90433384	45101363	10774	18486											
LIPF	8513	broad.mit.edu	37	chr10	90438204	90438204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcttgtgttttctagtcCcaacctccctactacaatgt	4	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90438204C>T	ENST00000394375.3	+	11	1106	c.993C>T	c.(991-993)tcC>tcT	p.S331S	LIPF_ENST00000355843.2_Silent_p.S298S|LIPF_ENST00000608620.1_Silent_p.S288S|LIPF_ENST00000238983.4_Silent_p.S321S	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	321					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTTTCTAGTCCCAACCTCCCT	0.443													False	0	True	10:90438204	0	T	90438204	C	T	90438204	2	4	88	1	0	0	0	0	0	0	0	1	8875	610	22	2		2	LIPF	10	90438204	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4820	90438204	45096543	10775	18487											
ANKRD22	118932	broad.mit.edu	37	chr10	90583062	90583062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttattgtggggtctgcaCgggcttccaagagcagaggg	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90583062C>T	ENST00000371930.4	-	5	683	c.473G>A	c.(472-474)cGt>cAt	p.R158H	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	158										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		GGGGTCTGCACGGGCTTCCAA	0.463													False	0	True	10:90583062	0	T	90583062	C	T	90583062	3	4	88	1	0	0	0	0	1	0	0	0	651	536	19	1	110	1	ANKRD22	10	90583062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144858	90583062	44951685	10776	18488											
STAMBPL1	57559	broad.mit.edu	37	chr10	90673146	90673146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaataaaagtgatgcaaccAattatgctagccactctcct	5	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90673146A>G	ENST00000371927.3	+	6	1667	c.709A>G	c.(709-711)Aat>Gat	p.N237D	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.N237D|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.N237D|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.N71D			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	237							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TGATGCAACCAATTATGCTAG	0.453													False	0	False	10:90673146	0	G	90673146	A	G	90673146	3	3	88	1	0	0	0	0	1	0	0	0	15333	130	5	4	727	4	STAMBPL1	10	90673146	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	90084	90673146	44861601	10777	18489											
ACTA2	59	broad.mit.edu	37	chr10	90699290	90699290	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggatggctggaacagggtcTctgggcagcggaaacgttca	16	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90699290T>A	ENST00000458208.1	-	7	1256	c.782A>T	c.(781-783)gAg>gTg	p.E261V	ACTA2-AS1_ENST00000596007.1_RNA|ACTA2-AS1_ENST00000437930.4_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.E261V|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	261					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GAACAGGGTCTCTGGGCAGCG	0.532													False	0	False	10:90699290	0	A	90699290	T	A	90699290	3	1	88	1	0	0	0	0	1	0	0	0	192	1551	54	5	363	5	ACTA2	10	90699290	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26144	90699290	44835457	10778	18490											
ACTA2	59	broad.mit.edu	37	chr10	90707143	90707143	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccattcccaccatcacccCctaaaaaggttcaacacatt	2	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90707143C>A	ENST00000458208.1	-	3	604	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W	ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Splice_Site_p.G44W|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	44					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ACCATCACCCCCTAAAAAGGT	0.453													False	0	True	10:90707143	0	A	90707143	C	A	90707143	5	1	88	1	0	0	0	0	0	0	1	0	192	637	22	3	1031	3	ACTA2	10	90707143	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7853	90707143	44827604	10779	18491											
LIPA	3988	broad.mit.edu	37	chr10	91007366	91007366	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcagaatgcagggtccagaGaaccaaacagaccaccaacc	8	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91007366G>T	ENST00000336233.5	-	2	362	c.40C>A	c.(40-42)Ctc>Atc	p.L14I	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000456827.1_Missense_Mutation_p.L14I			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	14					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		AGGGTCCAGAGAACCAAACAG	0.378													False	0	False	10:91007366	0	T	91007366	G	T	91007366	3	4	88	1	0	0	0	0	1	0	0	0	8872	942	33	3	1195	3	LIPA	10	91007366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300223	91007366	44527381	10780	18492											
IFIT3	3437	broad.mit.edu	37	chr10	91098602	91098602	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcctacataaaacacctaGatggtaacaacgaggcagcc	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91098602G>T	ENST00000371818.4	+	2	370	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	IFIT3_ENST00000371811.4_Missense_Mutation_p.D64Y|LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	64					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						AAAACACCTAGATGGTAACAA	0.418													False	0	False	10:91098602	0	T	91098602	G	T	91098602	3	4	88	1	0	0	0	0	1	0	0	0	7574	942	33	3	205	3	IFIT3	10	91098602	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91236	91098602	44436145	10781	18493											
IFIT3	3437	broad.mit.edu	37	chr10	91098786	91098786	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taaggtgaaacaaacctgcaAgaaattttcaaatccataca	5	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91098786A>T	ENST00000371818.4	+	2	554	c.374A>T	c.(373-375)aAg>aTg	p.K125M	IFIT3_ENST00000371811.4_Missense_Mutation_p.K125M|LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	125					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CAAACCTGCAAGAAATTTTCA	0.428													False	0	False	10:91098786	0	T	91098786	A	T	91098786	3	4	88	1	0	0	0	0	1	0	0	0	7574	72	3	5	389	5	IFIT3	10	91098786	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	184	91098786	44435961	10782	18494											
IFIT1	3434	broad.mit.edu	37	chr10	91162578	91162578	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatccagcgctgggtatgcGatctctgcctatcgcctgga	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91162578G>A	ENST00000546318.1	+	2	1740	c.453G>A	c.(451-453)gcG>gcA	p.A151A	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Silent_p.A182A	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	182					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CTGGGTATGCGATCTCTGCCT	0.478													False	0	False	10:91162578	0	A	91162578	G	A	91162578	2	1	88	1	0	0	0	0	0	0	0	1	7571	1045	37	1		1	IFIT1	10	91162578	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63792	91162578	44372169	10783	18495											
IFIT1	3434	broad.mit.edu	37	chr10	91162883	91162883	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgcaggaaacacccacttCtgtcttactgcatcaccaga	6	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91162883C>T	ENST00000546318.1	+	2	2045	c.758C>T	c.(757-759)tCt>tTt	p.S253F	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.S284F	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	284					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						ACACCCACTTCTGTCTTACTG	0.443													False	0	False	10:91162883	0	T	91162883	C	T	91162883	3	4	88	1	0	0	0	0	1	0	0	0	7571	913	32	2	857	2	IFIT1	10	91162883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	305	91162883	44371864	10784	18496											
IFIT5	24138	broad.mit.edu	37	chr10	91177557	91177557	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtctgtaaagagcttttctCtggggcctttgagaaaggct	13	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91177557C>G	ENST00000371795.4	+	2	814	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	IFIT5_ENST00000416601.1_Intron	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	201							binding			endometrium(1)|large_intestine(4)|lung(4)	9						GAGCTTTTCTCTGGGGCCTTT	0.448													False	0	False	10:91177557	0	G	91177557	C	G	91177557	3	3	88	1	0	0	0	0	1	0	0	0	7575	912	32	5	607	5	IFIT5	10	91177557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14674	91177557	44357190	10785	18497											
SLC16A12	387700	broad.mit.edu	37	chr10	91195956	91195956	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taggcaccatcaaagtagccAaaggtacaagagaaaggcac	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91195956A>C	ENST00000341233.4	-	7	1449	c.1059T>G	c.(1057-1059)ttT>ttG	p.F353L	SLC16A12_ENST00000371790.4_Missense_Mutation_p.F383L	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	353						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CAAAGTAGCCAAAGGTACAAG	0.502													False	0	True	10:91195956	0	C	91195956	A	C	91195956	3	2	88	1	0	0	0	0	1	0	0	0	14486	127	5	4	409	4	SLC16A12	10	91195956	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18399	91195956	44338791	10786	18498											
SLC16A12	387700	broad.mit.edu	37	chr10	91203589	91203589	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgagtgaagtatgtctgGaactccacaaaaaaaattga	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91203589G>A	ENST00000341233.4	-	4	528	c.138C>T	c.(136-138)ttC>ttT	p.F46F	SLC16A12_ENST00000371790.4_Silent_p.F76F	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	46						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGTATGTCTGGAACTCCACAA	0.368													False	0	False	10:91203589	0	A	91203589	G	A	91203589	2	1	88	1	0	0	0	0	0	0	0	1	14486	1165	41	2		2	SLC16A12	10	91203589	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7633	91203589	44331158	10787	18499											
KIF20B	9585	broad.mit.edu	37	chr10	91469201	91469201	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctcagggcagatggcacagAaattcagtttttccaaggta	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91469201A>C	ENST00000416354.1	+	4	406	c.334A>C	c.(334-336)Aaa>Caa	p.K112Q	KIF20B_ENST00000260753.4_Missense_Mutation_p.K112Q|KIF20B_ENST00000371728.3_Missense_Mutation_p.K112Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.K112Q			Q96Q89	KI20B_HUMAN	kinesin family member 20B	112	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATGGCACAGAAATTCAGTTT	0.373													False	0	True	10:91469201	0	C	91469201	A	C	91469201	3	2	88	1	0	0	0	0	1	0	0	0	8337	247	9	4	344	4	KIF20B	10	91469201	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	265612	91469201	44065546	10788	18500											
KIF20B	9585	broad.mit.edu	37	chr10	91477381	91477381	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaacgaactatgaagacacaGaatgaaggtgaaaggttaag	12	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91477381G>A	ENST00000416354.1	+	11	1245	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	KIF20B_ENST00000260753.4_Silent_p.Q391Q|KIF20B_ENST00000371728.3_Silent_p.Q391Q|KIF20B_ENST00000394289.2_Silent_p.Q391Q			Q96Q89	KI20B_HUMAN	kinesin family member 20B	391	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TGAAGACACAGAATGAAGGTG	0.313													False	0	False	10:91477381	0	A	91477381	G	A	91477381	2	1	88	1	0	0	0	0	0	0	0	1	8337	933	33	2		2	KIF20B	10	91477381	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8180	91477381	44057366	10789	18501											
KIF20B	9585	broad.mit.edu	37	chr10	91497999	91497999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgcaagaaaaaaatgttaCtcttgatgttcaaatacagc	6	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91497999C>A	ENST00000416354.1	+	20	3563	c.3491C>A	c.(3490-3492)aCt>aAt	p.T1164N	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.T1094N|KIF20B_ENST00000371728.3_Missense_Mutation_p.T1134N|KIF20B_ENST00000394289.2_Missense_Mutation_p.T1134N			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1134					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAATGTTACTCTTGATGTT	0.343													False	0	False	10:91497999	0	A	91497999	C	A	91497999	3	1	88	1	0	0	0	0	1	0	0	0	8337	565	20	3	3355	3	KIF20B	10	91497999	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20618	91497999	44036748	10790	18502											
KIF20B	9585	broad.mit.edu	37	chr10	91498777	91498777	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaagcagatcttcagaGgaaggaagaagattatgctg	12	5	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91498777G>T	ENST00000416354.1	+	21	4001	c.3929G>T	c.(3928-3930)aGg>aTg	p.R1310M	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.R1240M|KIF20B_ENST00000371728.3_Missense_Mutation_p.R1280M|KIF20B_ENST00000394289.2_Missense_Mutation_p.R1280M			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1280					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATCTTCAGAGGAAGGAAGAA	0.383													False	0	True	10:91498777	0	T	91498777	G	T	91498777	3	4	88	1	0	0	0	0	1	0	0	0	8337	1000	35	3	3797	3	KIF20B	10	91498777	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	778	91498777	44035970	10791	18503											
HTR7	3363	broad.mit.edu	37	chr10	92508676	92508676	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgagagcttccggttgatAttccggtactggcactggag	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92508676A>G	ENST00000371721.3	-	2	1457	c.1215T>C	c.(1213-1215)aaT>aaC	p.N405N	HTR7_ENST00000336152.3_Silent_p.N405N|HTR7_ENST00000277874.6_Silent_p.N405N|HTR7_ENST00000371719.2_Silent_p.N405N			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	405					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TCCGGTTGATATTCCGGTACT	0.498													False	0	False	10:92508676	0	G	92508676	A	G	92508676	2	3	88	1	0	0	0	0	0	0	0	1	7502	446	16	4		4	HTR7	10	92508676	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1009899	92508676	43026071	10792	18504											
HTR7	3363	broad.mit.edu	37	chr10	92509222	92509222	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accttatcatcatttacattCtgagcccatccaaagagtgg	6	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92509222C>A	ENST00000371721.3	-	2	911	c.669G>T	c.(667-669)caG>caT	p.Q223H	HTR7_ENST00000336152.3_Missense_Mutation_p.Q223H|HTR7_ENST00000277874.6_Missense_Mutation_p.Q223H|HTR7_ENST00000371719.2_Missense_Mutation_p.Q223H			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	223					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CATTTACATTCTGAGCCCATC	0.483													False	0	False	10:92509222	0	A	92509222	C	A	92509222	3	1	88	1	0	0	0	0	1	0	0	0	7502	912	32	3	786	3	HTR7	10	92509222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	546	92509222	43025525	10793	18505											
RPP30	10556	broad.mit.edu	37	chr10	92655655	92655655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctttagaaataagagggCcatatgacgtggcaaatctg	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92655655C>T	ENST00000413330.1	+	9	633	c.598C>T	c.(598-600)Cca>Tca	p.P200S	RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000371703.3_Missense_Mutation_p.P200S	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	200					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						AATAAGAGGGCCATATGACGT	0.279													False	0	True	10:92655655	0	T	92655655	C	T	92655655	3	4	88	1	0	0	0	0	1	0	0	0	13691	739	26	2	632	2	RPP30	10	92655655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146433	92655655	42879092	10794	18506											
RPP30	10556	broad.mit.edu	37	chr10	92663014	92663014	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcatactcccaagaacaggCtttgacccttctttaaaagg	6	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92663014C>A	ENST00000413330.1	+	13	999	c.964C>A	c.(964-966)Ctt>Att	p.L322I	RPP30_ENST00000489806.1_3'UTR	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	0					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						caagaacaggctttgaccctt	0.353													False	0	True	10:92663014	0	A	92663014	C	A	92663014	3	1	88	1	0	0	0	0	1	0	0	0	13691	797	28	3	1025	3	RPP30	10	92663014	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7359	92663014	42871733	10795	18507											
ANKRD1	27063	broad.mit.edu	37	chr10	92675933	92675933	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagaagaaggaataccttatCtcgggcgctaatttttgctc	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92675933C>T	ENST00000371697.3	-	6	894	c.646G>A	c.(646-648)Gat>Aat	p.D216N		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	216					cellular lipid metabolic process|defense response|signal transduction		DNA binding	p.D216Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				AATACCTTATCTCGGGCGCTA	0.522													False	0	False	10:92675933	0	T	92675933	C	T	92675933	3	4	88	1	0	0	0	0	1	0	0	0	637	913	32	2	329	2	ANKRD1	10	92675933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12919	92675933	42858814	10796	18508											
PCGF5	84333	broad.mit.edu	37	chr10	93011074	93011074	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcaaaagctgacaaaccGaaagtagatgaagaaggtga	10	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93011074G>A	ENST00000336126.5	+	6	583	c.351G>A	c.(349-351)ccG>ccA	p.P117P	PCGF5_ENST00000543648.1_Silent_p.P117P	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CTGACAAACCGAAAGTAGATG	0.299													False	0	True	10:93011074	0	A	93011074	G	A	93011074	2	1	88	1	0	0	0	0	0	0	0	1	11645	1045	37	1		1	PCGF5	10	93011074	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	335141	93011074	42523673	10797	18509											
PCGF5	84333	broad.mit.edu	37	chr10	93011174	93011174	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtttacgaaataatgggCaatcaggggacaatgtagta	11	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93011174C>T	ENST00000336126.5	+	6	683	c.451C>T	c.(451-453)Caa>Taa	p.Q151*	PCGF5_ENST00000543648.1_Nonsense_Mutation_p.Q151*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						AAATAATGGGCAATCAGGGGA	0.323													False	0	True	10:93011174	0	T	93011174	C	T	93011174	4	4	88	1	0	0	0	0	0	1	0	0	11645	711	25	2	469	2	PCGF5	10	93011174	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100	93011174	42523573	10798	18510											
HECTD2	143279	broad.mit.edu	37	chr10	93244323	93244323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaatttatttctttacGcctgtttcctgcaaagcctg	7	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93244323G>A	ENST00000446394.1	+	10	993	c.893G>A	c.(892-894)cGc>cAc	p.R298H	HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000298068.5_Missense_Mutation_p.R294H	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	294					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATTTCTTTACGCCTGTTTCCT	0.368													False	0	False	10:93244323	0	A	93244323	G	A	93244323	3	1	88	1	0	0	0	0	1	0	0	0	7087	1087	38	1	939	1	HECTD2	10	93244323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233149	93244323	42290424	10799	18511											
HECTD2	143279	broad.mit.edu	37	chr10	93256087	93256087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaaaatataccagtaggCatctgcaatgttaccgtgga	9	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93256087C>T	ENST00000446394.1	+	16	1750	c.1650C>T	c.(1648-1650)ggC>ggT	p.G550G	HECTD2_ENST00000536715.1_Silent_p.G135G|HECTD2_ENST00000371667.1_Silent_p.G196G|HECTD2_ENST00000298068.5_Silent_p.G546G	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	546	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TACCAGTAGGCATCTGCAATG	0.363													False	0	False	10:93256087	0	T	93256087	C	T	93256087	2	4	88	1	0	0	0	0	0	0	0	1	7087	697	25	2		2	HECTD2	10	93256087	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11764	93256087	42278660	10800	18512											
TNKS2	80351	broad.mit.edu	37	chr10	93608274	93608274	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctcttcaggtccatctagCccatcaagcctttctgcagc	6	16	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93608274C>A	ENST00000371627.4	+	19	2872	c.2493C>A	c.(2491-2493)agC>agA	p.S831R		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	831					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GTCCATCTAGCCCATCAAGCC	0.507													False	0	True	10:93608274	0	A	93608274	C	A	93608274	3	1	88	1	0	0	0	0	1	0	0	0	16403	738	26	3	2567	3	TNKS2	10	93608274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	352187	93608274	41926473	10801	18513											
TNKS2	80351	broad.mit.edu	37	chr10	93608297	93608297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaagcctttctgcagccaGcagtcttgacaacttatctg	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93608297G>A	ENST00000371627.4	+	19	2895	c.2516G>A	c.(2515-2517)aGc>aAc	p.S839N		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	839					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCTGCAGCCAGCAGTCTTGAC	0.488													False	0	True	10:93608297	0	A	93608297	G	A	93608297	3	1	88	1	0	0	0	0	1	0	0	0	16403	971	34	2	2590	2	TNKS2	10	93608297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	93608297	41926450	10802	18514											
BTAF1	9044	broad.mit.edu	37	chr10	93695422	93695422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttatttcaggctagatcGcctttttattttactggata	7	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93695422G>A	ENST00000265990.6	+	2	331	c.23G>A	c.(22-24)cGc>cAc	p.R8H		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	8					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.R8H(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGGCTAGATCGCCTTTTTATT	0.378													False	0	False	10:93695422	0	A	93695422	G	A	93695422	3	1	88	1	0	0	0	0	1	0	0	0	1543	1087	38	1	29	1	BTAF1	10	93695422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87125	93695422	41839325	10803	18515											
BTAF1	9044	broad.mit.edu	37	chr10	93711250	93711250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagaagcaattggaatgaGtactgaagaacttttcaatg	12	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93711250G>A	ENST00000265990.6	+	5	799	c.491G>A	c.(490-492)aGt>aAt	p.S164N		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	164					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTGGAATGAGTACTGAAGAA	0.373													False	0	False	10:93711250	0	A	93711250	G	A	93711250	3	1	88	1	0	0	0	0	1	0	0	0	1543	1029	36	2	509	2	BTAF1	10	93711250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15828	93711250	41823497	10804	18516											
BTAF1	9044	broad.mit.edu	37	chr10	93713536	93713536	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgactcagagtttcgagcaGgaatgagcaatagacaaaag	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93713536G>T	ENST00000265990.6	+	6	915	c.607G>T	c.(607-609)Gga>Tga	p.G203*		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	203					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GTTTCGAGCAGGAATGAGCAA	0.363													False	0	False	10:93713536	0	T	93713536	G	T	93713536	4	4	88	1	0	0	0	0	0	1	0	0	1543	1001	35	3	629	3	BTAF1	10	93713536	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2286	93713536	41821211	10805	18517											
BTAF1	9044	broad.mit.edu	37	chr10	93768637	93768637	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtataaacttcatggaattCtgtgtgatgacatgggttta	10	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93768637C>T	ENST00000265990.6	+	27	4173	c.3865C>T	c.(3865-3867)Ctg>Ttg	p.L1289L	BTAF1_ENST00000544642.1_Silent_p.L117L	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1289	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCATGGAATTCTGTGTGATGA	0.299													False	0	True	10:93768637	0	T	93768637	C	T	93768637	2	4	88	1	0	0	0	0	0	0	0	1	1543	912	32	2		2	BTAF1	10	93768637	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55101	93768637	41766110	10806	18518											
CPEB3	22849	broad.mit.edu	37	chr10	93999697	93999697	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgacatggtgcgggaagttCtggaagagcatggtcccgtt	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93999697C>A	ENST00000412050.4	-	2	499	c.411G>T	c.(409-411)caG>caT	p.Q137H	CPEB3_ENST00000265997.4_Missense_Mutation_p.Q137H	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	137	Pro-rich.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GCGGGAAGTTCTGGAAGAGCA	0.662													False	0	False	10:93999697	0	A	93999697	C	A	93999697	3	1	88	1	0	0	0	0	1	0	0	0	3825	912	32	3	1748	3	CPEB3	10	93999697	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231060	93999697	41535050	10807	18519											
KIF11	3832	broad.mit.edu	37	chr10	94373174	94373174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacattggccgttctggagCtgttgataagagagctcggg	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94373174C>T	ENST00000260731.3	+	8	920	c.830C>T	c.(829-831)gCt>gTt	p.A277V		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	277	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTTCTGGAGCTGTTGATAAG	0.378													False	0	False	10:94373174	0	T	94373174	C	T	94373174	3	4	88	1	0	0	0	0	1	0	0	0	8322	797	28	2	860	2	KIF11	10	94373174	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	373477	94373174	41161573	10808	18520											
KIF11	3832	broad.mit.edu	37	chr10	94381182	94381182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtttaaaacgagatcttgCtgcagcccgtgagaaaaatg	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94381182C>A	ENST00000260731.3	+	10	1259	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	390					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGATCTTGCTGCAGCCCGT	0.378													False	0	False	10:94381182	0	A	94381182	C	A	94381182	3	1	88	1	0	0	0	0	1	0	0	0	8322	797	28	3	1207	3	KIF11	10	94381182	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8008	94381182	41153565	10809	18521											
HHEX	3087	broad.mit.edu	37	chr10	94452255	94452255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcagaaatatctctctccGcccgagaggaagcgtctggc	11	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94452255G>A	ENST00000282728.5	+	2	2291	c.492G>A	c.(490-492)ccG>ccA	p.P164P	HHEX_ENST00000492654.2_5'UTR|HHEX_ENST00000472590.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	164					anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATCTCTCTCCGCCCGAGAGGA	0.607													False	0	True	10:94452255	0	A	94452255	G	A	94452255	2	1	88	1	0	0	0	0	0	0	0	1	7138	1074	38	1		1	HHEX	10	94452255	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71073	94452255	41082492	10810	18522											
CYP26A1	0	broad.mit.edu	37	chr10	94834670	94834670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctaccccgaggtgaagcgCctcatgttccgaatcgccat	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94834670C>T	ENST00000371531.1	+	3	720	c.342C>T	c.(340-342)cgC>cgT	p.R114R	CYP26A1_ENST00000394139.1_Silent_p.R114R|CYP26A1_ENST00000224356.4_Silent_p.R183R	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	183					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				AGGTGAAGCGCCTCATGTTCC	0.652													False	0	False	10:94834670	0	T	94834670	C	T	94834670	2	4	88	1	0	0	0	0	0	0	0	1	4180	726	26	2		2	CYP26A1	10	94834670	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	382415	94834670	40700077	10811	18523											
CYP26A1	0	broad.mit.edu	37	chr10	94836365	94836365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattttggaacaacttaaatAcatcgggtgtgttattaagg	9	4	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94836365A>G	ENST00000371531.1	+	6	1235	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	CYP26A1_ENST00000394139.1_Missense_Mutation_p.Y286C|CYP26A1_ENST00000224356.4_Missense_Mutation_p.Y355C	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	355					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CAACTTAAATACATCGGGTGT	0.383													False	0	False	10:94836365	0	G	94836365	A	G	94836365	3	3	88	1	0	0	0	0	1	0	0	0	4180	391	14	4	1086	4	CYP26A1	10	94836365	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1695	94836365	40698382	10812	18524											
MYOF	26509	broad.mit.edu	37	chr10	95082866	95082866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcactcatttcctctcCtgtgatgcttttctcgtcca	6	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95082866C>T	ENST00000371501.4	-	48	5547	c.5425G>A	c.(5425-5427)Gga>Aga	p.G1809R	MYOF_ENST00000359263.4_Missense_Mutation_p.G1809R|MYOF_ENST00000358334.5_Missense_Mutation_p.G1796R|MYOF_ENST00000371502.4_Missense_Mutation_p.G1799R			Q9NZM1	MYOF_HUMAN	myoferlin	1809					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTTCCTCTCCTGTGATGCTT	0.443													False	0	False	10:95082866	0	T	95082866	C	T	95082866	3	4	88	1	0	0	0	0	1	0	0	0	10156	690	24	2	788	2	MYOF	10	95082866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246501	95082866	40451881	10813	18525											
RBP4	5950	broad.mit.edu	37	chr10	95353719	95353719	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtcagcacaggtgccatcGaggttcaggaggcggcagga	16	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95353719G>A	ENST00000371467.1	-	5	748	c.429C>T	c.(427-429)ctC>ctT	p.L143L	FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Silent_p.L143L|RBP4_ENST00000371469.2_Silent_p.L141L			P02753	RET4_HUMAN	retinol binding protein 4, plasma	143					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AGGTGCCATCGAGGTTCAGGA	0.597													False	0	False	10:95353719	0	A	95353719	G	A	95353719	2	1	88	1	0	0	0	0	0	0	0	1	13237	1045	37	1		1	RBP4	10	95353719	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270853	95353719	40181028	10814	18526											
RBP4	5950	broad.mit.edu	37	chr10	95353756	95353756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtactgcacggcatacGtgtcgtagtctgtgtcgacg	14	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95353756G>A	ENST00000371467.1	-	5	711	c.392C>T	c.(391-393)aCg>aTg	p.T131M	FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.T131M|RBP4_ENST00000371469.2_Missense_Mutation_p.T129M			P02753	RET4_HUMAN	retinol binding protein 4, plasma	131					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CACGGCATACGTGTCGTAGTC	0.582													False	0	False	10:95353756	0	A	95353756	G	A	95353756	3	1	88	1	0	0	0	0	1	0	0	0	13237	1145	40	1	221	1	RBP4	10	95353756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	95353756	40180991	10815	18527											
PDE6C	5146	broad.mit.edu	37	chr10	95396763	95396763	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acattttagaaatttcaagaGaagttaaatgttgatgtaat	7	2	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95396763G>T	ENST00000371447.3	+	11	1563	c.1425G>T	c.(1423-1425)gaG>gaT	p.E475D		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	475					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AATTTCAAGAGAAGTTAAATG	0.308													False	0	False	10:95396763	0	T	95396763	G	T	95396763	3	4	88	1	0	0	0	0	1	0	0	0	11715	933	33	3	1467	3	PDE6C	10	95396763	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43007	95396763	40137984	10816	18528											
PLCE1	51196	broad.mit.edu	37	chr10	96018655	96018655	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacatgagttttgttgaatTtgttgagctgttcaaatcat	8	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96018655T>C	ENST00000371380.3	+	11	3888	c.3653T>C	c.(3652-3654)tTt>tCt	p.F1218S	PLCE1_ENST00000260766.3_Missense_Mutation_p.F1218S|PLCE1_ENST00000371375.1_Missense_Mutation_p.F910S|PLCE1_ENST00000371385.3_Missense_Mutation_p.F910S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTGTTGAATTTGTTGAGCTG	0.428													False	0	True	10:96018655	0	C	96018655	T	C	96018655	3	2	88	1	0	0	0	0	1	0	0	0	12103	1841	64	4	3981	4	PLCE1	10	96018655	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	621892	96018655	39516092	10817	18529											
PLCE1	51196	broad.mit.edu	37	chr10	96022269	96022269	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatctgttgaccagaaatgTctcggatttggggttgttca	12	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022269T>G	ENST00000371380.3	+	13	4068	c.3833T>G	c.(3832-3834)gTc>gGc	p.V1278G	PLCE1_ENST00000260766.3_Missense_Mutation_p.V1278G|PLCE1_ENST00000371375.1_Missense_Mutation_p.V970G|PLCE1_ENST00000371385.3_Missense_Mutation_p.V970G			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCAGAAATGTCTCGGATTTG	0.433													False	0	False	10:96022269	0	G	96022269	T	G	96022269	3	3	88	1	0	0	0	0	1	0	0	0	12103	1667	58	4	4169	4	PLCE1	10	96022269	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3614	96022269	39512478	10818	18530											
PLCE1	51196	broad.mit.edu	37	chr10	96022417	96022417	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttttggggtgggcatactTcagctcaacgatttcctcgt	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022417T>C	ENST00000371380.3	+	13	4216	c.3981T>C	c.(3979-3981)ctT>ctC	p.L1327L	PLCE1_ENST00000260766.3_Silent_p.L1327L|PLCE1_ENST00000371375.1_Silent_p.L1019L|PLCE1_ENST00000371385.3_Silent_p.L1019L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGGCATACTTCAGCTCAACG	0.478													False	0	False	10:96022417	0	C	96022417	T	C	96022417	2	2	88	1	0	0	0	0	0	0	0	1	12103	1770	62	4		4	PLCE1	10	96022417	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	148	96022417	39512330	10819	18531											
PLCE1	51196	broad.mit.edu	37	chr10	96044717	96044717	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctattgtcaagcagtaaaatTtccaggtaagattaggcaat	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96044717T>C	ENST00000371380.3	+	21	5265	c.5030T>C	c.(5029-5031)tTt>tCt	p.F1677S	PLCE1_ENST00000260766.3_Missense_Mutation_p.F1677S|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.F1369S|PLCE1_ENST00000371385.3_Missense_Mutation_p.F1369S|PLCE1-AS1_ENST00000440198.1_RNA|PLCE1-AS1_ENST00000596633.1_RNA			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCAGTAAAATTTCCAGGTAAG	0.318													False	0	True	10:96044717	0	C	96044717	T	C	96044717	3	2	88	1	0	0	0	0	1	0	0	0	12103	1841	64	4	5398	4	PLCE1	10	96044717	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22300	96044717	39490030	10820	18532											
PLCE1	51196	broad.mit.edu	37	chr10	96076504	96076504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggattgtcttaaaaacCcagcaggaagtaagtgtgtc	12	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96076504C>T	ENST00000371380.3	+	28	6568	c.6333C>T	c.(6331-6333)acC>acT	p.T2111T	PLCE1_ENST00000260766.3_Silent_p.T2111T|PLCE1_ENST00000371375.1_Silent_p.T1803T|PLCE1_ENST00000371385.3_Silent_p.T1803T|NOC3L_ENST00000543788.1_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1		Ras-associating 1.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCTTAAAAACCCAGCAGGAAG	0.443													False	0	True	10:96076504	0	T	96076504	C	T	96076504	2	4	88	1	0	0	0	0	0	0	0	1	12103	610	22	2		2	PLCE1	10	96076504	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31787	96076504	39458243	10821	18533											
NOC3L	64318	broad.mit.edu	37	chr10	96100033	96100033	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattatctaaacatacatacCtgcatgtaatttgaacagtg	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96100033C>A	ENST00000371361.3	-	16	1880	c.1780G>T	c.(1780-1782)Ggt>Tgt	p.G594C	NOC3L_ENST00000371350.1_Splice_Site_p.G594C|NOC3L_ENST00000543788.1_Splice_Site_p.G332C	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	594						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ACATACATACCTGCATGTAAT	0.299													False	0	True	10:96100033	0	A	96100033	C	A	96100033	5	1	88	1	0	0	0	0	0	0	1	0	10582	695	24	3	646	3	NOC3L	10	96100033	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23529	96100033	39434714	10822	18534											
NOC3L	64318	broad.mit.edu	37	chr10	96117060	96117060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatctataatgcgttcatGcttccgtttcttcgcatgaa	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96117060G>A	ENST00000371361.3	-	4	479	c.379C>T	c.(379-381)Cat>Tat	p.H127Y	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.H127Y	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	127						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATGCGTTCATGCTTCCGTTTC	0.348													False	0	False	10:96117060	0	A	96117060	G	A	96117060	3	1	88	1	0	0	0	0	1	0	0	0	10582	1319	46	2	2095	2	NOC3L	10	96117060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17027	96117060	39417687	10823	18535											
TBC1D12	23232	broad.mit.edu	37	chr10	96291155	96291155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccagaagatatcacatcgGaaaagctgttcagttgtatt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96291155G>A	ENST00000225235.4	+	12	2307	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	733						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TATCACATCGGAAAAGCTGTT	0.358													False	0	True	10:96291155	0	A	96291155	G	A	96291155	3	1	88	1	0	0	0	0	1	0	0	0	15683	1175	41	2	2243	2	TBC1D12	10	96291155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174095	96291155	39243592	10824	18536											
HELLS	3070	broad.mit.edu	37	chr10	96351995	96351995	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctccttaagatcgatgaaGaattggtaacaaattctggg	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96351995G>T	ENST00000348459.5	+	16	1882	c.1777G>T	c.(1777-1779)Gaa>Taa	p.E593*	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Nonsense_Mutation_p.E495*|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Nonsense_Mutation_p.E639*|RP11-119K6.6_ENST00000432120.1_RNA	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	593					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GATCGATGAAGAATTGGTAAC	0.343													False	0	False	10:96351995	0	T	96351995	G	T	96351995	4	4	88	1	0	0	0	0	0	1	0	0	7093	943	33	3	1839	3	HELLS	10	96351995	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60840	96351995	39182752	10825	18537											
CYP2C18	1562	broad.mit.edu	37	chr10	96447959	96447959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcggaattttgggatgGggaagaggagcatcgaggac	17	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96447959G>T	ENST00000285979.6	+	3	608	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.G137W	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTTTGGGATGGGGAAGAGGAG	0.478													False	0	True	10:96447959	0	T	96447959	G	T	96447959	3	4	88	1	0	0	0	0	1	0	0	0	4190	1232	43	3	419	3	CYP2C18	10	96447959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95964	96447959	39086788	10826	18538											
CYP2C18	1562	broad.mit.edu	37	chr10	96484190	96484190	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacatgccctacacagatgCtgtggtgcacgagatccaga	10	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96484190C>A	ENST00000285979.6	+	7	1248	c.1049C>A	c.(1048-1050)gCt>gAt	p.A350D	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.A291D	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TACACAGATGCTGTGGTGCAC	0.498													False	0	False	10:96484190	0	A	96484190	C	A	96484190	3	1	88	1	0	0	0	0	1	0	0	0	4190	797	28	3	1075	3	CYP2C18	10	96484190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36231	96484190	39050557	10827	18539											
CYP2C18	1562	broad.mit.edu	37	chr10	96493196	96493196	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatgcctttctcagcagGtaatagatattcatttccat	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96493196G>A	ENST00000285979.6	+	8	1490		c.e8+1		CYP2C19_ENST00000464755.1_Splice_Site|CYP2C18_ENST00000339022.5_Splice_Site	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTCTCAGCAGGTAATAGATAT	0.438													False	0	False	10:96493196	0	A	96493196	G	A	96493196	5	1	88	1	0	0	0	0	0	0	1	0	4190	1275	44	2	1322	2	CYP2C18	10	96493196	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9006	96493196	39041551	10828	18540											
CYP2C9	1559	broad.mit.edu	37	chr10	96707611	96707611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccattattttccataaacGttttgattataaagatcagc	4	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96707611G>A	ENST00000260682.6	+	4	569	c.557G>A	c.(556-558)cGt>cAt	p.R186H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	186					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTCCATAAACGTTTTGATTAT	0.373													False	0	True	10:96707611	0	A	96707611	G	A	96707611	3	1	88	1	0	0	0	0	1	0	0	0	4193	1145	40	1	571	1	CYP2C9	10	96707611	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214415	96707611	38827136	10829	18541											
SORBS1	10580	broad.mit.edu	37	chr10	97096906	97096906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaggaggcaagggtgggGtcagggccagagaacgcctg	20	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97096906G>A	ENST00000371247.2	-	30	3200	c.3011C>T	c.(3010-3012)aCc>aTc	p.T1004I	SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.T1004I|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.T958I			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1004					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CAAGGGTGGGGTCAGGGCCAG	0.637													False	0	True	10:97096906	0	A	97096906	G	A	97096906	3	1	88	1	0	0	0	0	1	0	0	0	15007	1261	44	2	947	2	SORBS1	10	97096906	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389295	97096906	38437841	10830	18542											
ALDH18A1	5832	broad.mit.edu	37	chr10	97397085	97397085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgagtggagggcctgccGcacgctctgagacagaagga	15	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97397085G>A	ENST00000371224.2	-	4	549	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	ALDH18A1_ENST00000483788.1_5'UTR|ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R138W	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	138	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	AGGGCCTGCCGCACGCTCTGA	0.552													False	0	False	10:97397085	0	A	97397085	G	A	97397085	3	1	88	1	0	0	0	0	1	0	0	0	489	1086	38	1	2035	1	ALDH18A1	10	97397085	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300179	97397085	38137662	10831	18543											
TCTN3	26123	broad.mit.edu	37	chr10	97440291	97440291	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgagcttgcgggttggacaGgagacctacatatgcccaca	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97440291G>T	ENST00000265993.9	-	13	1771	c.1582C>A	c.(1582-1584)Ctg>Atg	p.L528M	TCTN3_ENST00000430368.2_Missense_Mutation_p.L362M|TCTN3_ENST00000371217.5_Missense_Mutation_p.L510M	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3						apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		GGGTTGGACAGGAGACCTACA	0.463													False	0	False	10:97440291	0	T	97440291	G	T	97440291	3	4	88	1	0	0	0	0	1	0	0	0	15806	991	35	3	303	3	TCTN3	10	97440291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43206	97440291	38094456	10832	18544											
CC2D2B	387707	broad.mit.edu	37	chr10	97773576	97773576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgatttgtatctttgattcCttttgtgcctaatacaccag	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97773576C>A	ENST00000344386.3	+	5	514	c.350C>A	c.(349-351)cCt>cAt	p.P117H	RP11-690P14.4_ENST00000475252.2_Intron|CC2D2B_ENST00000410012.2_Missense_Mutation_p.P117H|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	117										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TCTTTGATTCCTTTTGTGCCT	0.313													False	0	True	10:97773576	0	A	97773576	C	A	97773576	3	1	88	1	0	0	0	0	1	0	0	0	2749	681	24	3	364	3	CC2D2B	10	97773576	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333285	97773576	37761171	10833	18545											
CCNJ	54619	broad.mit.edu	37	chr10	97817750	97817750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcagacctcactgcagtatCgccatcctacgtcagaacaa	6	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97817750C>T	ENST00000265992.5	+	6	1238	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	CCNJ_ENST00000465148.2_Missense_Mutation_p.R302C|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R290C|CCNJ_ENST00000534974.1_Missense_Mutation_p.R291C	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	291						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		ACTGCAGTATCGCCATCCTAC	0.498													False	0	False	10:97817750	0	T	97817750	C	T	97817750	3	4	88	1	0	0	0	0	1	0	0	0	2951	884	31	1	922	1	CCNJ	10	97817750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44174	97817750	37716997	10834	18546											
ZNF518A	9849	broad.mit.edu	37	chr10	97916210	97916210	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggaagtattcattatgCactaaaaaatgtgaaaattg	7	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97916210C>T	ENST00000534948.1	+	0	988							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATTCATTATGCACTAAAAAAT	0.269													False	0	False	10:97916210	0	T	97916210	C	T	97916210	1	4	88	0	1	0	0	0	0	0	0	0	18045	710	25	2		2	ZNF518A	10	97916210	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98460	97916210	37618537	10835	18547											
BLNK	29760	broad.mit.edu	37	chr10	97967627	97967627	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaatgcaaaattaacttaCtgtcttcagtggtgtcgttg	8	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97967627C>T	ENST00000224337.5	-	10	916		c.e10+1		BLNK_ENST00000371176.2_Splice_Site|BLNK_ENST00000427367.2_Splice_Site|BLNK_ENST00000413476.2_Splice_Site	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker						B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AATTAACTTACTGTCTTCAGT	0.328													False	0	False	10:97967627	0	T	97967627	C	T	97967627	5	4	88	1	0	0	0	0	0	0	1	0	1452	579	20	2	627	2	BLNK	10	97967627	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51417	97967627	37567120	10836	18548											
DNTT	1791	broad.mit.edu	37	chr10	98064324	98064324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagacgggtgccttgatgGcctcctctcctcaagacatc	11	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98064324G>A	ENST00000419175.1	+	1	240	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Missense_Mutation_p.A24T	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	24					DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGCCTTGATGGCCTCCTCTCC	0.577													False	0	False	10:98064324	0	A	98064324	G	A	98064324	3	1	88	1	0	0	0	0	1	0	0	0	4710	1203	42	2	72	2	DNTT	10	98064324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96697	98064324	37470423	10837	18549											
DNTT	1791	broad.mit.edu	37	chr10	98064345	98064345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctcctcaagacatcAaatttcaagatttggtcgtc	5	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98064345A>G	ENST00000419175.1	+	1	261	c.91A>G	c.(91-93)Aaa>Gaa	p.K31E	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Missense_Mutation_p.K31E	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	31	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TCAAGACATCAAATTTCAAGA	0.557													False	0	True	10:98064345	0	G	98064345	A	G	98064345	3	3	88	1	0	0	0	0	1	0	0	0	4710	131	5	4	93	4	DNTT	10	98064345	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21	98064345	37470402	10838	18550											
OPALIN	93377	broad.mit.edu	37	chr10	98105750	98105750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaatcccctccttctttccAtttctatagtaggacggtaa	5	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98105750A>G	ENST00000419479.1	-	7	851	c.344T>C	c.(343-345)aTg>aCg	p.M115T	OPALIN_ENST00000393870.2_Missense_Mutation_p.M114T|OPALIN_ENST00000371172.3_Missense_Mutation_p.M125T|OPALIN_ENST00000393871.1_Missense_Mutation_p.M102T|OPALIN_ENST00000536387.1_Missense_Mutation_p.M115T	NM_001040103.1|NM_001284323.1|NM_001284324.1	NP_001035192.1|NP_001271252.1|NP_001271253.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	125						Golgi apparatus|integral to membrane|plasma membrane		p.M115T(1)|p.M125T(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CCTTCTTTCCATTTCTATAGT	0.517													False	0	True	10:98105750	0	G	98105750	A	G	98105750	3	3	88	1	0	0	0	0	1	0	0	0	10941	217	8	4	55	4	OPALIN	10	98105750	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41405	98105750	37428997	10839	18551											
TLL2	7093	broad.mit.edu	37	chr10	98182405	98182405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcccagctcgtgagccaCaatgccaaacttgtcacagt	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98182405C>T	ENST00000357947.3	-	6	943	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	240	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCGTGAGCCACAATGCCAAAC	0.547													False	0	False	10:98182405	0	T	98182405	C	T	98182405	3	4	88	1	0	0	0	0	1	0	0	0	16028	478	17	2	2393	2	TLL2	10	98182405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76655	98182405	37352342	10840	18552											
TLL2	7093	broad.mit.edu	37	chr10	98188430	98188430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caataaagctttcctcatccGtcctttctatgaaggtcaca	5	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98188430G>A	ENST00000357947.3	-	5	821	c.596C>T	c.(595-597)aCg>aTg	p.T199M	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	199	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTCCTCATCCGTCCTTTCTAT	0.493													False	0	False	10:98188430	0	A	98188430	G	A	98188430	3	1	88	1	0	0	0	0	1	0	0	0	16028	1145	40	1	2519	1	TLL2	10	98188430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6025	98188430	37346317	10841	18553											
TM9SF3	56889	broad.mit.edu	37	chr10	98325081	98325081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatattggtaaatcatctAtgtacatctggtaccagtaa	6	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98325081A>G	ENST00000371142.4	-	3	617	c.401T>C	c.(400-402)aTa>aCa	p.I134T		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	134						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TAAATCATCTATGTACATCTG	0.308													False	0	False	10:98325081	0	G	98325081	A	G	98325081	3	3	88	1	0	0	0	0	1	0	0	0	16061	449	16	4	1420	4	TM9SF3	10	98325081	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	136651	98325081	37209666	10842	18554											
PIK3AP1	118788	broad.mit.edu	37	chr10	98376418	98376418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgctttcctgatttttgCttctctctctgtcttcgggt	8	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98376418C>T	ENST00000339364.5	-	13	2111	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	PIK3AP1_ENST00000371109.3_Silent_p.K263K|PIK3AP1_ENST00000371110.2_Silent_p.K486K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	664						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTGATTTTTGCTTCTCTCTCT	0.433													False	0	False	10:98376418	0	T	98376418	C	T	98376418	2	4	88	1	0	0	0	0	0	0	0	1	11977	796	28	2		2	PIK3AP1	10	98376418	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51337	98376418	37158329	10843	18555											
PIK3AP1	118788	broad.mit.edu	37	chr10	98405355	98405355	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccatggactcgtacacaGcatcagcctcctccccgtgc	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98405355G>T	ENST00000339364.5	-	8	1369	c.1250C>A	c.(1249-1251)gCt>gAt	p.A417D	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.A239D	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	417						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTCGTACACAGCATCAGCCTC	0.552													False	0	False	10:98405355	0	T	98405355	G	T	98405355	3	4	88	1	0	0	0	0	1	0	0	0	11977	971	34	3	1207	3	PIK3AP1	10	98405355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28937	98405355	37129392	10844	18556											
C10orf12	26148	broad.mit.edu	37	chr10	98741161	98741161	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaccatatgcagagttcagCtttagtagaaagtctaatta	8	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98741161C>A	ENST00000286067.2	+	1	121	c.14C>A	c.(13-15)gCt>gAt	p.A5D		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	5										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAGAGTTCAGCTTTAGTAGAA	0.393													False	0	True	10:98741161	0	A	98741161	C	A	98741161	3	1	88	1	0	0	0	0	1	0	0	0	1597	797	28	3	16	3	C10orf12	10	98741161	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335806	98741161	36793586	10845	18557											
C10orf12	26148	broad.mit.edu	37	chr10	98741860	98741860	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctaagcagacccttacaaTtccagcccctagacatacag	5	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98741860T>G	ENST00000286067.2	+	1	820	c.713T>G	c.(712-714)aTt>aGt	p.I238S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	238										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACCCTTACAATTCCAGCCCCT	0.493													False	0	False	10:98741860	0	G	98741860	T	G	98741860	3	3	88	1	0	0	0	0	1	0	0	0	1597	1493	52	4	715	4	C10orf12	10	98741860	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	699	98741860	36792887	10846	18558											
C10orf12	26148	broad.mit.edu	37	chr10	98744054	98744054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgatgtcagccccggCcctaattctgaagacagcat	11	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98744054C>T	ENST00000286067.2	+	1	3014	c.2907C>T	c.(2905-2907)ggC>ggT	p.G969G		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	969										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCAGCCCCGGCCCTAATTCTG	0.483													False	0	True	10:98744054	0	T	98744054	C	T	98744054	2	4	88	1	0	0	0	0	0	0	0	1	1597	726	26	2		2	C10orf12	10	98744054	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2194	98744054	36790693	10847	18559											
SLIT1	6585	broad.mit.edu	37	chr10	98760969	98760969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacttcctccgcttcagcCgaaggccctggcagcagccc	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98760969C>T	ENST00000266058.4	-	37	4750	c.4505G>A	c.(4504-4506)cGg>cAg	p.R1502Q	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G1461S	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1502	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCGCTTCAGCCGAAGGCCCTG	0.647													False	0	False	10:98760969	0	T	98760969	C	T	98760969	3	4	88	1	0	0	0	0	1	0	0	0	14819	652	23	1	103	1	SLIT1	10	98760969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16915	98760969	36773778	10848	18560											
SLIT1	6585	broad.mit.edu	37	chr10	98808726	98808726	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtacctgagcaccggaacTtcttgctcttgatctgcccg	10	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98808726T>G	ENST00000266058.4	-	14	1696	c.1451A>C	c.(1450-1452)aAg>aCg	p.K484T	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.K484T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	484	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCACCGGAACTTCTTGCTCTT	0.652													False	0	False	10:98808726	0	G	98808726	T	G	98808726	3	3	88	1	0	0	0	0	1	0	0	0	14819	1609	56	4	3249	4	SLIT1	10	98808726	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47757	98808726	36726021	10849	18561											
SLIT1	6585	broad.mit.edu	37	chr10	98816148	98816148	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatcttgttgtcatacagggAgagcagtgagaggttctgca	14	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98816148A>G	ENST00000266058.4	-	13	1476	c.1231T>C	c.(1231-1233)Tcc>Ccc	p.S411P	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.S411P	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	411					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCATACAGGGAGAGCAGTGAG	0.582													False	0	True	10:98816148	0	G	98816148	A	G	98816148	3	3	88	1	0	0	0	0	1	0	0	0	14819	304	11	4	3473	4	SLIT1	10	98816148	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7422	98816148	36718599	10850	18562											
SLIT1	6585	broad.mit.edu	37	chr10	98823297	98823297	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcactgggtgaagagcccGatggttggccgctgcctcag	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98823297G>A	ENST00000266058.4	-	8	953	c.708C>T	c.(706-708)atC>atT	p.I236I	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.I236I|SLIT1_ENST00000371041.3_Silent_p.I236I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	236	LRRCT 1.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGAAGAGCCCGATGGTTGGCC	0.647													False	0	True	10:98823297	0	A	98823297	G	A	98823297	2	1	88	1	0	0	0	0	0	0	0	1	14819	1048	37	1		1	SLIT1	10	98823297	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7149	98823297	36711450	10851	18563											
PGAM1	5223	broad.mit.edu	37	chr10	99190716	99190716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctttattgcttaggatcGcaggtatgcagacctcacag	9	9	2	1	rs138208659	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99190716G>A	ENST00000334828.5	+	3	567	c.419G>A	c.(418-420)cGc>cAc	p.R140H	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	140					gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		GCTTAGGATCGCAGGTATGCA	0.428													False	0	False	10:99190716	0	A	99190716	G	A	99190716	3	1	88	1	0	0	0	0	1	0	0	0	11842	1087	38	1	429	1	PGAM1	10	99190716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367419	99190716	36344031	10852	18564											
MMS19	64210	broad.mit.edu	37	chr10	99236652	99236652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccaccagaagattacGgggatccttttccccatcca	9	13	0	2	rs143513996		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99236652G>A	ENST00000438925.2	-	7	897	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000370782.2_Missense_Mutation_p.R188C|MMS19_ENST00000355839.6_Intron|MMS19_ENST00000327238.10_Missense_Mutation_p.R188C|MMS19_ENST00000483626.1_5'UTR	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	188					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AGAAGATTACGGGGATCCTTT	0.488								Direct reversal of damage					False	0	True	10:99236652	0	A	99236652	G	A	99236652	3	1	88	1	0	0	0	0	1	0	0	0	9739	1116	39	1	2630	1	MMS19	10	99236652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45936	99236652	36298095	10853	18565											
UBTD1	80019	broad.mit.edu	37	chr10	99327681	99327681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcccaggacgcaatgaGcccctgaagaaagagcggct	12	13	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99327681G>A	ENST00000370664.3	+	2	417	c.81G>A	c.(79-81)gaG>gaA	p.E27E		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	27										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		GACGCAATGAGCCCCTGAAGA	0.617													False	0	True	10:99327681	0	A	99327681	G	A	99327681	2	1	88	1	0	0	0	0	0	0	0	1	16991	962	34	2		2	UBTD1	10	99327681	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91029	99327681	36207066	10854	18566											
UBTD1	80019	broad.mit.edu	37	chr10	99330200	99330200	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctgctcacagaccgcAcacggctccaggagaccaag	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99330200A>G	ENST00000370664.3	+	3	940	c.604A>G	c.(604-606)Aca>Gca	p.T202A		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	202	Ubiquitin-like.									central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CACAGACCGCACACGGCTCCA	0.627													False	0	False	10:99330200	0	G	99330200	A	G	99330200	3	3	88	1	0	0	0	0	1	0	0	0	16991	159	6	4	614	4	UBTD1	10	99330200	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2519	99330200	36204547	10855	18567											
PI4K2A	55361	broad.mit.edu	37	chr10	99422666	99422666	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttatatttctgttcacagatCgaggcaatgacaactggctg	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99422666C>T	ENST00000370631.3	+	5	982	c.925C>T	c.(925-927)Cga>Tga	p.R309*	PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.R279*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.R279*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	309	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GTTCACAGATCGAGGCAATGA	0.388													False	0	False	10:99422666	0	T	99422666	C	T	99422666	4	4	88	1	0	0	0	0	0	1	0	0	11940	876	31	1	943	1	PI4K2A	10	99422666	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92466	99422666	36112081	10856	18568											
PI4K2A	55361	broad.mit.edu	37	chr10	99433364	99433364	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctgacccaggccttgaaAgacaacaagagtcccctgca	8	13	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99433364A>C	ENST00000370631.3	+	9	1362	c.1305A>C	c.(1303-1305)aaA>aaC	p.K435N	PI4K2A_ENST00000555577.1_Missense_Mutation_p.K405N|PI4K2A_ENST00000370649.3_Missense_Mutation_p.K405N	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	435	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		AGGCCTTGAAAGACAACAAGA	0.542													False	0	True	10:99433364	0	C	99433364	A	C	99433364	3	2	88	1	0	0	0	0	1	0	0	0	11940	69	3	4	1339	4	PI4K2A	10	99433364	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10698	99433364	36101383	10857	18569											
GOLGA7B	401647	broad.mit.edu	37	chr10	99624000	99624000	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcgaggcctcctacttacaGaccctgtggagcgtgggatg	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99624000G>T	ENST00000370602.1	+	4	432	c.367G>T	c.(367-369)Gac>Tac	p.D123Y		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	123						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						CCTACTTACAGACCCTGTGGA	0.527													False	0	False	10:99624000	0	T	99624000	G	T	99624000	3	4	88	1	0	0	0	0	1	0	0	0	6607	942	33	3	381	3	GOLGA7B	10	99624000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190636	99624000	35910747	10858	18570											
CRTAC1	55118	broad.mit.edu	37	chr10	99667810	99667810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaggtgccatcgccccgGttgtggaaaaggaagttagg	14	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99667810G>A	ENST00000370597.3	-	6	1165	c.810C>T	c.(808-810)aaC>aaT	p.N270N	CRTAC1_ENST00000298819.4_Silent_p.N270N|CRTAC1_ENST00000370591.2_Silent_p.N270N	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	270						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCGCCCCGGTTGTGGAAAA	0.627													False	0	False	10:99667810	0	A	99667810	G	A	99667810	2	1	88	1	0	0	0	0	0	0	0	1	3919	1252	44	2		2	CRTAC1	10	99667810	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43810	99667810	35866937	10859	18571											
LOXL4	84171	broad.mit.edu	37	chr10	100015438	100015438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctctgtgcctgagcagCgcaccccactcatcaccacc	7	20	3	1	rs139275517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100015438C>T	ENST00000260702.3	-	10	1637	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	496	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCCTGAGCAGCGCACCCCACT	0.662													False	0	False	10:100015438	0	T	100015438	C	T	100015438	3	4	88	1	0	0	0	0	1	0	0	0	8964	768	27	1	807	1	LOXL4	10	100015438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347628	100015438	35519309	10860	18572											
LOXL4	84171	broad.mit.edu	37	chr10	100021971	100021971	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgtccagccagatgggtcCtgtggagtggaggtgatgct	16	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100021971C>A	ENST00000260702.3	-	3	428		c.e3-1			NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4							extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CAGATGGGTCCTGTGGAGTGG	0.572													False	0	False	10:100021971	0	A	100021971	C	A	100021971	5	1	88	1	0	0	0	0	0	0	1	0	8964	695	24	3	2045	3	LOXL4	10	100021971	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6533	100021971	35512776	10861	18573											
PYROXD2	84795	broad.mit.edu	37	chr10	100152291	100152291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacaactccttgaacacaGccttcactgttcacctgcac	5	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100152291G>A	ENST00000370575.4	-	10	1008	c.960C>T	c.(958-960)ggC>ggT	p.G320G	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	320							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CTTGAACACAGCCTTCACTGT	0.532													False	0	False	10:100152291	0	A	100152291	G	A	100152291	2	1	88	1	0	0	0	0	0	0	0	1	12946	958	34	2		2	PYROXD2	10	100152291	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130320	100152291	35382456	10862	18574											
HPS1	3257	broad.mit.edu	37	chr10	100177447	100177447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtagcacctgacagcctcGgttgggcggttcttgctgta	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100177447G>A	ENST00000325103.6	-	20	2210	c.1977C>T	c.(1975-1977)acC>acT	p.T659T	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.T659T	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	659					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	p.T659T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGACAGCCTCGGTTGGGCGGT	0.667									Hermansky-Pudlak syndrome				False	0	False	10:100177447	0	A	100177447	G	A	100177447	2	1	88	1	0	0	0	0	0	0	0	1	7386	1103	39	1		1	HPS1	10	100177447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25156	100177447	35357300	10863	18575											
HPS1	3257	broad.mit.edu	37	chr10	100178003	100178003	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgggcacctcgatcatctgGagtttgtacccctgaggagg	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100178003G>A	ENST00000325103.6	-	19	2102	c.1869C>T	c.(1867-1869)ctC>ctT	p.L623L	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.L623L	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	623					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CGATCATCTGGAGTTTGTACC	0.637									Hermansky-Pudlak syndrome				False	0	False	10:100178003	0	A	100178003	G	A	100178003	2	1	88	1	0	0	0	0	0	0	0	1	7386	1161	41	2		2	HPS1	10	100178003	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	556	100178003	35356744	10864	18576											
HPSE2	60495	broad.mit.edu	37	chr10	100503711	100503711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagactcagggcactagaaCtgttccaggagttattggga	12	8	1	2	rs138827531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100503711C>T	ENST00000370552.3	-	4	772	c.713G>A	c.(712-714)aGt>aAt	p.S238N	HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000370546.1_Missense_Mutation_p.S238N	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	238					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGCACTAGAACTGTTCCAGGA	0.423													False	0	False	10:100503711	0	T	100503711	C	T	100503711	3	4	88	1	0	0	0	0	1	0	0	0	7392	565	20	2	1139	2	HPSE2	10	100503711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325708	100503711	35031036	10865	18577											
CNNM1	26507	broad.mit.edu	37	chr10	101090473	101090473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagactgcttcatgctgcgCtcagacgcggtgctcgactt	13	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101090473C>T	ENST00000356713.4	+	1	1618	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	CNNM1_ENST00000370528.3_Silent_p.R372R|CNNM1_ENST00000370534.4_Silent_p.R78R|CNNM1_ENST00000446890.1_Silent_p.R372R	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	443	CBS 1.				ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TCATGCTGCGCTCAGACGCGG	0.612													False	0	False	10:101090473	0	T	101090473	C	T	101090473	2	4	88	1	0	0	0	0	0	0	0	1	3635	784	28	2		2	CNNM1	10	101090473	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	586762	101090473	34444274	10866	18578											
CNNM1	26507	broad.mit.edu	37	chr10	101136957	101136957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcagtccacatcctcagCgatgtgcagtttgtgaaggt	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101136957C>T	ENST00000356713.4	+	7	2611	c.2322C>T	c.(2320-2322)agC>agT	p.S774S	CNNM1_ENST00000370528.3_Silent_p.S703S|CNNM1_ENST00000488090.1_3'UTR|CNNM1_ENST00000370534.4_Silent_p.S430S|CNNM1_ENST00000446890.1_Silent_p.S703S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	774					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ACATCCTCAGCGATGTGCAGT	0.562													False	0	False	10:101136957	0	T	101136957	C	T	101136957	2	4	88	1	0	0	0	0	0	0	0	1	3635	767	27	1		1	CNNM1	10	101136957	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46484	101136957	34397790	10867	18579											
CNNM1	26507	broad.mit.edu	37	chr10	101151259	101151259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacaactccaatttaacaCctctgatcacatgacagggc	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101151259C>T	ENST00000356713.4	+	11	3131	c.2842C>T	c.(2842-2844)Cct>Tct	p.P948S	CNNM1_ENST00000370528.3_Missense_Mutation_p.P827S|CNNM1_ENST00000370534.4_Missense_Mutation_p.P604S|CNNM1_ENST00000446890.1_Missense_Mutation_p.P877S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	948					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CAATTTAACACCTCTGATCAC	0.488													False	0	False	10:101151259	0	T	101151259	C	T	101151259	3	4	88	1	0	0	0	0	1	0	0	0	3635	507	18	2	2884	2	CNNM1	10	101151259	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14302	101151259	34383488	10868	18580											
GOT1	2805	broad.mit.edu	37	chr10	101180479	101180479	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattggcagatactcgtgatTtaggctattgtcattagcaa	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101180479T>G	ENST00000370508.5	-	2	229	c.202A>C	c.(202-204)Aat>Cat	p.N68H	GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_Missense_Mutation_p.N47H	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	68					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TACTCGTGATTTAGGCTATTG	0.522													False	0	True	10:101180479	0	G	101180479	T	G	101180479	3	3	88	1	0	0	0	0	1	0	0	0	6624	1841	64	4	1071	4	GOT1	10	101180479	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29220	101180479	34354268	10869	18581											
GOT1	2805	broad.mit.edu	37	chr10	101190246	101190246	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggggtccggatcctccCtgaagtcggcagtgagcttg	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101190246C>A	ENST00000370508.5	-	1	104	c.77G>T	c.(76-78)aGg>aTg	p.R26M	GOT1_ENST00000471741.1_5'UTR	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	26					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGGATCCTCCCTGAAGTCGGC	0.602													False	0	True	10:101190246	0	A	101190246	C	A	101190246	3	1	88	1	0	0	0	0	1	0	0	0	6624	681	24	3	1200	3	GOT1	10	101190246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9767	101190246	34344501	10870	18582											
SLC25A28	81894	broad.mit.edu	37	chr10	101370678	101370678	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactcatacacagaccatgcGatggctgtggaggggatctg	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101370678G>A	ENST00000370495.4	-	4	1051	c.1023C>T	c.(1021-1023)atC>atT	p.I341I		NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	341					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CAGACCATGCGATGGCTGTGG	0.512													False	0	False	10:101370678	0	A	101370678	G	A	101370678	2	1	88	1	0	0	0	0	0	0	0	1	14571	1048	37	1		1	SLC25A28	10	101370678	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180432	101370678	34164069	10871	18583											
ENTPD7	57089	broad.mit.edu	37	chr10	101439486	101439486	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgttttaacttaaggaatCtctgcaatggcagacactcc	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101439486C>T	ENST00000370489.4	+	5	580	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	134						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CTTAAGGAATCTCTGCAATGG	0.443													False	0	False	10:101439486	0	T	101439486	C	T	101439486	2	4	88	1	0	0	0	0	0	0	0	1	5176	903	32	2		2	ENTPD7	10	101439486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68808	101439486	34095261	10872	18584											
COX15	1355	broad.mit.edu	37	chr10	101487261	101487261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattcctcttggcttgtaGgtggcttcatctcctttatt	7	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101487261G>A	ENST00000370483.5	-	3	382	c.332C>T	c.(331-333)cCt>cTt	p.P111L	CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Missense_Mutation_p.P111L	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	111					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TTGGCTTGTAGGTGGCTTCAT	0.403													False	0	False	10:101487261	0	A	101487261	G	A	101487261	3	1	88	1	0	0	0	0	1	0	0	0	3787	1000	35	2	998	2	COX15	10	101487261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47775	101487261	34047486	10873	18585											
ABCC2	1244	broad.mit.edu	37	chr10	101560322	101560322	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctgtatataagaaggTaagcagaatacggcaggtat	12	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101560322T>C	ENST00000370449.4	+	9	1322		c.e9+2			NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2							apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TATAAGAAGGTAAGCAGAATA	0.408													False	0	False	10:101560322	0	C	101560322	T	C	101560322	5	2	88	1	0	0	0	0	0	0	1	0	53	1652	57	4	1245	4	ABCC2	10	101560322	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	73061	101560322	33974425	10874	18586											
ABCC2	1244	broad.mit.edu	37	chr10	101572802	101572802	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggacattatggcaggccaActtgtggctgtgataggccc	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101572802A>C	ENST00000370449.4	+	16	2108	c.1995A>C	c.(1993-1995)caA>caC	p.Q665H		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	665	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGGCAGGCCAACTTGTGGCTG	0.493													False	0	False	10:101572802	0	C	101572802	A	C	101572802	3	2	88	1	0	0	0	0	1	0	0	0	53	40	2	4	2057	4	ABCC2	10	101572802	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12480	101572802	33961945	10875	18587											
ABCC2	1244	broad.mit.edu	37	chr10	101604222	101604222	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacatcggtagcatggagaaGgtaggtggagtgaaggaagg	19	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101604222G>T	ENST00000370449.4	+	28	4100	c.3987G>T	c.(3985-3987)aaG>aaT	p.K1329N		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1329	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCATGGAGAAGGTAGGTGGAG	0.517													False	0	True	10:101604222	0	T	101604222	G	T	101604222	5	4	88	1	0	0	0	0	0	0	1	0	53	1014	35	3	4097	3	ABCC2	10	101604222	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31420	101604222	33930525	10876	18588											
DNMBP	23268	broad.mit.edu	37	chr10	101646207	101646207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcattcagggcctcataGttgttccgggccgactgcag	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101646207G>T	ENST00000342239.3	-	13	3631	c.3540C>A	c.(3538-3540)aaC>aaA	p.N1180K	DNMBP_ENST00000540316.1_Missense_Mutation_p.N92K|DNMBP_ENST00000543621.1_Missense_Mutation_p.N402K|DNMBP_ENST00000324109.4_Missense_Mutation_p.N1156K|DNMBP_ENST00000472036.1_5'UTR			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1156	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGGCCTCATAGTTGTTCCGGG	0.552													False	0	False	10:101646207	0	T	101646207	G	T	101646207	3	4	88	1	0	0	0	0	1	0	0	0	4704	1020	36	3	1285	3	DNMBP	10	101646207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41985	101646207	33888540	10877	18589											
DNMBP	23268	broad.mit.edu	37	chr10	101654741	101654741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagacaggtctcggataaAagacttaatcaatctttctt	8	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101654741A>G	ENST00000342239.3	-	11	3281	c.3190T>C	c.(3190-3192)Ttt>Ctt	p.F1064L	DNMBP_ENST00000540316.1_5'UTR|DNMBP_ENST00000543621.1_Missense_Mutation_p.F286L|DNMBP_ENST00000324109.4_Missense_Mutation_p.F1040L			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1040	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTCGGATAAAAGACTTAATC	0.368													False	0	True	10:101654741	0	G	101654741	A	G	101654741	3	3	88	1	0	0	0	0	1	0	0	0	4704	14	1	4	1643	4	DNMBP	10	101654741	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8534	101654741	33880006	10878	18590											
DNMBP	23268	broad.mit.edu	37	chr10	101659757	101659757	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcagcgcaatggcctcaTcatgattctggcagtaaatc	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101659757T>C	ENST00000342239.3	-	7	2712	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	DNMBP_ENST00000543621.1_Missense_Mutation_p.D120G|DNMBP_ENST00000324109.4_Missense_Mutation_p.D874G			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	874	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AATGGCCTCATCATGATTCTG	0.443													False	0	False	10:101659757	0	C	101659757	T	C	101659757	3	2	88	1	0	0	0	0	1	0	0	0	4704	1435	50	4	2156	4	DNMBP	10	101659757	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5016	101659757	33874990	10879	18591											
CPN1	1369	broad.mit.edu	37	chr10	101835819	101835819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcagctcgcggcccaacGcttcgttgccgtgcatgttc	11	15	1	0	rs138185881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101835819G>A	ENST00000370418.3	-	2	520	c.269C>T	c.(268-270)gCg>gTg	p.A90V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	90	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GCGGCCCAACGCTTCGTTGCC	0.557													False	0	False	10:101835819	0	A	101835819	G	A	101835819	3	1	88	1	0	0	0	0	1	0	0	0	3832	1087	38	1	1139	1	CPN1	10	101835819	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176062	101835819	33698928	10880	18592											
ERLIN1	10613	broad.mit.edu	37	chr10	101912014	101912014	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagcacatgaggagtccacGaacatgttagggatgttgct	12	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101912014G>A	ENST00000421367.2	-	11	3628	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ERLIN1_ENST00000407654.3_Silent_p.F307F	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	305					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		AGGAGTCCACGAACATGTTAG	0.458													False	0	False	10:101912014	0	A	101912014	G	A	101912014	2	1	88	1	0	0	0	0	0	0	0	1	5264	1049	37	1		1	ERLIN1	10	101912014	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76195	101912014	33622733	10881	18593											
CHUK	1147	broad.mit.edu	37	chr10	101964413	101964413	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatatctaagaagacttaAcctaaaccacagcaagaaaa	4	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101964413A>G	ENST00000370397.7	-	13	1443	c.1357T>C	c.(1357-1359)Tta>Cta	p.L453L		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	453					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		AGAAGACTTAACCTAAACCAC	0.299													False	0	False	10:101964413	0	G	101964413	A	G	101964413	5	3	88	1	0	0	0	0	0	0	1	0	3439	57	2	4	916	4	CHUK	10	101964413	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52399	101964413	33570334	10882	18594											
PKD2L1	9033	broad.mit.edu	37	chr10	102051122	102051123	+	Frame_Shift_Ins	INS	-	-	AGATAGTAAAGAA													atccagaatacgattcccatINSctctgtcaaacttggtgaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102051122_102051123insAGATAGTAAAGAA	ENST00000318222.3	-	12	2324_2325	c.1942_1943insTTCTTTACTATCT	c.(1942-1944)gatfs	p.D648fs	PKD2L1_ENST00000353274.3_Frame_Shift_Ins_p.D648fs|PKD2L1_ENST00000338519.3_Frame_Shift_Ins_p.D573fs	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	648					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ACGATTCCCATCTCTGTCAAAC	0.515													False	0	False	10:102051122	0	AGATAGTAAAGAA	102051123	-	AGATAGTAAAGAA	102051122	7	5	88	1	0	1	1	0	0	0	0	0	12036	1435	50	0	494	0	PKD2L1	10	102051122	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	86709	102051122	33483625	10883	18595											
PKD2L1	9033	broad.mit.edu	37	chr10	102055907	102055907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcgaagaagaggttgacaGcattcatgttgttgtactgt	13	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102055907G>T	ENST00000318222.3	-	7	1710	c.1328C>A	c.(1327-1329)gCt>gAt	p.A443D	PKD2L1_ENST00000353274.3_Missense_Mutation_p.A443D|PKD2L1_ENST00000338519.3_Missense_Mutation_p.A368D	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	443					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GAGGTTGACAGCATTCATGTT	0.493													False	0	False	10:102055907	0	T	102055907	G	T	102055907	3	4	88	1	0	0	0	0	1	0	0	0	12036	971	34	3	1129	3	PKD2L1	10	102055907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4785	102055907	33478840	10884	18596											
PKD2L1	9033	broad.mit.edu	37	chr10	102056007	102056007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccatgagccgattcacctCgagggttcggaatatgtgga	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102056007C>T	ENST00000318222.3	-	7	1610	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	PKD2L1_ENST00000353274.3_Missense_Mutation_p.E410K|PKD2L1_ENST00000338519.3_Missense_Mutation_p.E335K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	410					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CGATTCACCTCGAGGGTTCGG	0.542													False	0	False	10:102056007	0	T	102056007	C	T	102056007	3	4	88	1	0	0	0	0	1	0	0	0	12036	893	31	1	1229	1	PKD2L1	10	102056007	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100	102056007	33478740	10885	18597											
SCD	6319	broad.mit.edu	37	chr10	102114262	102114262	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgatcctcataattccCgacgtggctttttcttctct	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102114262C>T	ENST00000370355.2	+	4	901	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	174					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TCATAATTCCCGACGTGGCTT	0.507													False	0	True	10:102114262	0	T	102114262	C	T	102114262	4	4	88	1	0	0	0	0	0	1	0	0	13966	644	23	1	534	1	SCD	10	102114262	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58255	102114262	33420485	10886	18598											
SEC31B	25956	broad.mit.edu	37	chr10	102265204	102265204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgtgccacttgctctgGcacctgcagtggtgggagag	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102265204G>A	ENST00000370345.3	-	10	1190	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S	SEC31B_ENST00000451524.1_Missense_Mutation_p.P365S	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	365					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACTTGCTCTGGCACCTGCAGT	0.517													False	0	False	10:102265204	0	A	102265204	G	A	102265204	3	1	88	1	0	0	0	0	1	0	0	0	14080	1203	42	2	2514	2	SEC31B	10	102265204	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150942	102265204	33269543	10887	18599											
NDUFB8	4714	broad.mit.edu	37	chr10	102286192	102286192	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtacacgtcccccacccaGcacatgaatatcatgaaagc	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102286192G>T	ENST00000531258.1	-	4	461	c.432C>A	c.(430-432)tgC>tgA	p.C144*	NDUFB8_ENST00000299166.4_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000557395.1_Nonsense_Mutation_p.C144*|NDUFB8_ENST00000370320.4_Nonsense_Mutation_p.C144*|SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000370322.1_Nonsense_Mutation_p.C113*			O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	144					mitochondrial electron transport, NADH to ubiquinone|transport	endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)	NADH(DB00157)	CCCCCACCCAGCACATGAATA	0.527													False	0	True	10:102286192	0	T	102286192	G	T	102286192	4	4	88	1	0	0	0	0	0	1	0	0	10355	963	34	3	136	3	NDUFB8	10	102286192	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20988	102286192	33248555	10888	18600											
PAX2	5076	broad.mit.edu	37	chr10	102509502	102509502	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttcttgtctctccccaGcagggcacgggggtgtgaac	12	11	2	1	rs74550754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102509502G>A	ENST00000370296.2	+	2	593		c.e2-1		PAX2_ENST00000428433.1_Splice_Site|PAX2_ENST00000361791.3_Splice_Site|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000355243.3_Splice_Site|PAX2_ENST00000556085.1_Intron			Q02962	PAX2_HUMAN	paired box 2						anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TCTCTCCCCAGCAGGGCACGG	0.672													False	0	False	10:102509502	0	A	102509502	G	A	102509502	5	1	88	1	0	0	0	0	0	0	1	0	11547	985	34	2	49	2	PAX2	10	102509502	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	223310	102509502	33025245	10889	18601											
PAX2	5076	broad.mit.edu	37	chr10	102509561	102509561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacggccggcccctaccCgacgtggtgaggcagcgcat	15	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102509561C>T	ENST00000370296.2	+	2	652	c.102C>T	c.(100-102)ccC>ccT	p.P34P	PAX2_ENST00000428433.1_Silent_p.P34P|PAX2_ENST00000361791.3_Silent_p.P34P|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000355243.3_Silent_p.P34P|PAX2_ENST00000556085.1_Silent_p.P33P			Q02962	PAX2_HUMAN	paired box 2	34	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGCCCCTACCCGACGTGGTGA	0.647													False	0	True	10:102509561	0	T	102509561	C	T	102509561	2	4	88	1	0	0	0	0	0	0	0	1	11547	639	23	1		1	PAX2	10	102509561	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59	102509561	33025186	10890	18602											
PAX2	5076	broad.mit.edu	37	chr10	102584662	102584662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctctctctccttagaggCtgcagttggtccctcatcct	7	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102584662C>T	ENST00000370296.2	+	10	1644	c.1094C>T	c.(1093-1095)gCt>gTt	p.A365V	PAX2_ENST00000428433.1_Intron|PAX2_ENST00000361791.3_Missense_Mutation_p.A342V|PAX2_ENST00000355243.3_Intron|PAX2_ENST00000556085.1_Intron			Q02962	PAX2_HUMAN	paired box 2	169					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TCCTTAGAGGCTGCAGTTGGT	0.587													False	0	False	10:102584662	0	T	102584662	C	T	102584662	3	4	88	1	0	0	0	0	1	0	0	0	11547	797	28	2	1132	2	PAX2	10	102584662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75101	102584662	32950085	10891	18603											
FAM178A	0	broad.mit.edu	37	chr10	102684141	102684141	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccttcagaaaaataaaacCgctagctccacgacaaagga	6	11	1	1	rs141433125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102684141C>T	ENST00000238961.4	+	5	1925	c.1383C>T	c.(1381-1383)acC>acT	p.T461T	FAM178A_ENST00000370269.3_Silent_p.T461T|FAM178A_ENST00000370271.3_Silent_p.T461T	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		AAAATAAAACCGCTAGCTCCA	0.413													False	0	False	10:102684141	0	T	102684141	C	T	102684141	2	4	88	1	0	0	0	0	0	0	0	1	5539	639	23	1		1	FAM178A	10	102684141	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99479	102684141	32850606	10892	18604											
FAM178A	0	broad.mit.edu	37	chr10	102689733	102689733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggttttattggacaaagtgCtgtagaaaaacttattctta	8	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102689733C>A	ENST00000238961.4	+	8	2854	c.2312C>A	c.(2311-2313)gCt>gAt	p.A771D	FAM178A_ENST00000370269.3_Missense_Mutation_p.A771D	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		GGACAAAGTGCTGTAGAAAAA	0.279													False	0	False	10:102689733	0	A	102689733	C	A	102689733	3	1	88	1	0	0	0	0	1	0	0	0	5539	797	28	3	2342	3	FAM178A	10	102689733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5592	102689733	32845014	10893	18605											
SEMA4G	57715	broad.mit.edu	37	chr10	102743421	102743421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtgctagccattgccgcgCttggtggcctctgcctcatc	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102743421C>A	ENST00000210633.3	+	14	2143	c.2065C>A	c.(2065-2067)Ctt>Att	p.L689I	MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.L684I			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	684					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CATTGCCGCGCTTGGTGGCCT	0.652													False	0	False	10:102743421	0	A	102743421	C	A	102743421	3	1	88	1	0	0	0	0	1	0	0	0	14117	797	28	3	2119	3	SEMA4G	10	102743421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53688	102743421	32791326	10894	18606											
SEMA4G	57715	broad.mit.edu	37	chr10	102743779	102743779	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcttctgaggcagagcaAcaatggagtaccagcagggc	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102743779A>G	ENST00000210633.3	+	14	2501	c.2423A>G	c.(2422-2424)aAc>aGc	p.N808S	MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Missense_Mutation_p.V173A|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370242.4_Missense_Mutation_p.V173A|SEMA4G_ENST00000370250.4_Missense_Mutation_p.N803S			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	803					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AGGCAGAGCAACAATGGAGTA	0.607													False	0	False	10:102743779	0	G	102743779	A	G	102743779	3	3	88	1	0	0	0	0	1	0	0	0	14117	43	2	4	2477	4	SEMA4G	10	102743779	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	358	102743779	32790968	10895	18607											
C10orf2	56652	broad.mit.edu	37	chr10	102749183	102749183	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgtatcttgaagggacatCgaaagggcgagctgacggtc	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102749183C>T	ENST00000370228.1	+	1	1401	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	C10orf2_ENST00000311916.2_Nonsense_Mutation_p.R406*|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	406	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAAGGGACATCGAAAGGGCGA	0.527													False	0	False	10:102749183	0	T	102749183	C	T	102749183	4	4	88	1	0	0	0	0	0	1	0	0	1605	876	31	1	1218	1	C10orf2	10	102749183	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5404	102749183	32785564	10896	18608											
LZTS2	84445	broad.mit.edu	37	chr10	102763691	102763691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggccggtcctcctccaGcaagagcacaggctccctag	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102763691G>A	ENST00000370220.1	+	2	3899	c.836G>A	c.(835-837)aGc>aAc	p.S279N	LZTS2_ENST00000370223.3_Missense_Mutation_p.S279N			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	279	Required for centrosomal localization (By similarity).|Ser-rich.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TCCTCCTCCAGCAAGAGCACA	0.697													False	0	False	10:102763691	0	A	102763691	G	A	102763691	3	1	88	1	0	0	0	0	1	0	0	0	9202	971	34	2	842	2	LZTS2	10	102763691	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14508	102763691	32771056	10897	18609											
LZTS2	84445	broad.mit.edu	37	chr10	102765260	102765260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcgagagcgtgaggccCtgcgagaggactgtgcggcc	19	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102765260C>A	ENST00000370220.1	+	3	4177	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	LZTS2_ENST00000370223.3_Missense_Mutation_p.L372M			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	372					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCGTGAGGCCCTGCGAGAGGA	0.657													False	0	True	10:102765260	0	A	102765260	C	A	102765260	3	1	88	1	0	0	0	0	1	0	0	0	9202	680	24	3	1124	3	LZTS2	10	102765260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1569	102765260	32769487	10898	18610											
LZTS2	84445	broad.mit.edu	37	chr10	102766458	102766458	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgttcccaggagctgcagCgacaccgccaggaagctgag	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102766458C>T	ENST00000370220.1	+	4	4606	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R515*			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	515	Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGAGCTGCAGCGACACCGCCA	0.701													False	0	False	10:102766458	0	T	102766458	C	T	102766458	4	4	88	1	0	0	0	0	0	1	0	0	9202	760	27	1	1557	1	LZTS2	10	102766458	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1198	102766458	32768289	10899	18611											
LZTS2	84445	broad.mit.edu	37	chr10	102766922	102766922	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagatcactgctactgagatCtagggccctcagcaaccagc	10	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102766922C>A	ENST00000370220.1	+	4	5070	c.2007C>A	c.(2005-2007)atC>atA	p.I669I	LZTS2_ENST00000370223.3_Silent_p.I669I			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	669	Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CTACTGAGATCTAGGGCCCTC	0.657													False	0	False	10:102766922	0	A	102766922	C	A	102766922	2	1	88	1	0	0	0	0	0	0	0	1	9202	903	32	3		3	LZTS2	10	102766922	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	464	102766922	32767825	10900	18612											
PDZD7	79955	broad.mit.edu	37	chr10	102777979	102777979	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgaagaagaggttcatcaGcgtcttggagcgctgcaggg	15	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102777979G>T	ENST00000370215.3	-	9	1624	c.1399C>A	c.(1399-1401)Ctg>Atg	p.L467M		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	467						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGGTTCATCAGCGTCTTGGAG	0.652													False	0	False	10:102777979	0	T	102777979	G	T	102777979	3	4	88	1	0	0	0	0	1	0	0	0	11772	962	34	3	162	3	PDZD7	10	102777979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11057	102777979	32756768	10901	18613											
PDZD7	79955	broad.mit.edu	37	chr10	102783309	102783309	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgctacccatggtggtgctCtccaggctcagcccattcac	10	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102783309C>A	ENST00000370215.3	-	4	651	c.426G>T	c.(424-426)gaG>gaT	p.E142D	PDZD7_ENST00000470414.1_Missense_Mutation_p.E142D	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	142	PDZ 1.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TGGTGGTGCTCTCCAGGCTCA	0.647													False	0	False	10:102783309	0	A	102783309	C	A	102783309	3	1	88	1	0	0	0	0	1	0	0	0	11772	912	32	3	1155	3	PDZD7	10	102783309	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5330	102783309	32751438	10902	18614											
LBX1	10660	broad.mit.edu	37	chr10	102988278	102988278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagaacgctgacctccaGccccttaaacgtcttgctgg	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102988278G>T	ENST00000370193.2	-	1	1273	c.295C>A	c.(295-297)Ctg>Atg	p.L99M		NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	99					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CTGACCTCCAGCCCCTTAAAC	0.721													False	0	True	10:102988278	0	T	102988278	G	T	102988278	3	4	88	1	0	0	0	0	1	0	0	0	8704	962	34	3	558	3	LBX1	10	102988278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204969	102988278	32546469	10903	18615											
BTRC	8945	broad.mit.edu	37	chr10	103285770	103285770	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcctccccctactgaaagCtcggggattggatcatattg	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103285770C>A	ENST00000370187.3	+	6	675	c.557C>A	c.(556-558)gCt>gAt	p.A186D	BTRC_ENST00000408038.2_Splice_Site_p.A150D|BTRC_ENST00000393441.4_Splice_Site_p.A145D	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	186					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTACTGAAAGCTCGGGGATTG	0.438													False	0	False	10:103285770	0	A	103285770	C	A	103285770	5	1	88	1	0	0	0	0	0	0	1	0	1576	811	28	3	579	3	BTRC	10	103285770	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	297492	103285770	32248977	10904	18616											
POLL	27343	broad.mit.edu	37	chr10	103339447	103339447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagggcacaggcaaactcGctatagggcaccacgatgat	12	11	0	1	rs145961723	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103339447G>A	ENST00000370162.3	-	9	1985	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	POLL_ENST00000463515.1_5'UTR|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370168.3_Silent_p.S170S|POLL_ENST00000370158.3_Silent_p.S222S|POLL_ENST00000456836.2_Silent_p.S234S|POLL_ENST00000339310.3_Silent_p.S220S|POLL_ENST00000370169.1_Silent_p.S497S|DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Silent_p.S497S|POLL_ENST00000370172.1_Silent_p.S409S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	497	DNA binding.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCAAACTCGCTATAGGGCA	0.607								DNA polymerases (catalytic subunits)					False	0	False	10:103339447	0	A	103339447	G	A	103339447	2	1	88	1	0	0	0	0	0	0	0	1	12274	1078	38	1		1	POLL	10	103339447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53677	103339447	32195300	10905	18617											
POLL	27343	broad.mit.edu	37	chr10	103342623	103342623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcagggaggcctggctgCggatgtcttccagacttcgg	15	10	2	1	rs146112511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103342623C>T	ENST00000370162.3	-	7	1585	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	DPCD_ENST00000470165.1_Intron|POLL_ENST00000370168.3_Missense_Mutation_p.R37H|POLL_ENST00000370158.3_Missense_Mutation_p.R89H|POLL_ENST00000456836.2_Missense_Mutation_p.R101H|POLL_ENST00000339310.3_Missense_Mutation_p.R87H|POLL_ENST00000370169.1_Missense_Mutation_p.R364H|DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.R364H|POLL_ENST00000370172.1_Missense_Mutation_p.R276H	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	364					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCCTGGCTGCGGATGTCTTC	0.552								DNA polymerases (catalytic subunits)					False	0	False	10:103342623	0	T	103342623	C	T	103342623	3	4	88	1	0	0	0	0	1	0	0	0	12274	768	27	1	648	1	POLL	10	103342623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3176	103342623	32192124	10906	18618											
POLL	27343	broad.mit.edu	37	chr10	103347012	103347012	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtcagctcaccttctgcttCttctccctcttccctcctag	5	18	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103347012C>A	ENST00000370162.3	-	2	600	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	POLL_ENST00000436284.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370158.3_Missense_Mutation_p.K19N|POLL_ENST00000456836.2_Missense_Mutation_p.K17N|POLL_ENST00000339310.3_Missense_Mutation_p.K17N|POLL_ENST00000370169.1_Nonsense_Mutation_p.E36*|DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Nonsense_Mutation_p.E36*|POLL_ENST00000370172.1_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	36	BRCT.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCTTCTGCTTCTTCTCCCTCT	0.483								DNA polymerases (catalytic subunits)					False	0	False	10:103347012	0	A	103347012	C	A	103347012	4	1	88	1	0	0	0	0	0	1	0	0	12274	922	32	3	1653	3	POLL	10	103347012	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4389	103347012	32187735	10907	18619											
FBXW4	6468	broad.mit.edu	37	chr10	103427655	103427655	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccttacctgagtaatgggCtgatagcaatggaccagact	10	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103427655C>A	ENST00000331272.7	-	5	1376	c.758G>T	c.(757-759)aGc>aTc	p.S253I		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	253					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex		p.S253>?(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GAGTAATGGGCTGATAGCAAT	0.468													False	0	True	10:103427655	0	A	103427655	C	A	103427655	3	1	88	1	0	0	0	0	1	0	0	0	5807	797	28	3	500	3	FBXW4	10	103427655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80643	103427655	32107092	10908	18620											
FGF8	2253	broad.mit.edu	37	chr10	103530353	103530353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacaatctccgtgaagacGcagtccttgcctttgccgtt	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103530353G>A	ENST00000347978.2	-	5	550	c.381C>T	c.(379-381)tgC>tgT	p.C127C	FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000344255.3_Silent_p.C145C|FGF8_ENST00000346714.3_Silent_p.C116C|FGF8_ENST00000320185.2_Silent_p.C156C	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	145					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CCGTGAAGACGCAGTCCTTGC	0.632													False	0	False	10:103530353	0	A	103530353	G	A	103530353	2	1	88	1	0	0	0	0	0	0	0	1	5898	1079	38	1		1	FGF8	10	103530353	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102698	103530353	32004394	10909	18621											
NPM3	10360	broad.mit.edu	37	chr10	103542239	103542239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctggggaactcaccatgGgttggcaggacagcttgagg	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103542239G>A	ENST00000370110.5	-	3	342	c.320C>T	c.(319-321)cCc>cTc	p.P107L	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	107							nucleic acid binding			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ACTCACCATGGGTTGGCAGGA	0.577													False	0	True	10:103542239	0	A	103542239	G	A	103542239	3	1	88	1	0	0	0	0	1	0	0	0	10657	1232	43	2	228	2	NPM3	10	103542239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11886	103542239	31992508	10910	18622											
MGEA5	10724	broad.mit.edu	37	chr10	103559127	103559127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgataaactgttgttactacGgttgtggcatttaaagaggg	12	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103559127G>A	ENST00000361464.3	-	9	1676	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	MGEA5_ENST00000370094.3_Silent_p.T427T|MGEA5_ENST00000357797.5_Silent_p.T374T|MGEA5_ENST00000439817.1_Silent_p.T374T	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	427					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTGTTACTACGGTTGTGGCAT	0.453													False	0	False	10:103559127	0	A	103559127	G	A	103559127	2	1	88	1	0	0	0	0	0	0	0	1	9622	1103	39	1		1	MGEA5	10	103559127	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16888	103559127	31975620	10911	18623											
MGEA5	10724	broad.mit.edu	37	chr10	103565854	103565854	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttcacccacagtccttaaAtatggagactgagacacatt	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103565854A>C	ENST00000361464.3	-	6	1094	c.699T>G	c.(697-699)taT>taG	p.Y233*	MGEA5_ENST00000370094.3_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000357797.5_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000439817.1_Nonsense_Mutation_p.Y233*|MGEA5_ENST00000419011.2_3'UTR	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	233					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CAGTCCTTAAATATGGAGACT	0.353													False	0	True	10:103565854	0	C	103565854	A	C	103565854	4	2	88	1	0	0	0	0	0	1	0	0	9622	108	4	4	2095	4	MGEA5	10	103565854	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6727	103565854	31968893	10912	18624											
MGEA5	10724	broad.mit.edu	37	chr10	103567613	103567613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcacacatattatggtctaTatcatcaaaaagcaaagcaa	5	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103567613T>C	ENST00000361464.3	-	5	921	c.526A>G	c.(526-528)Ata>Gta	p.I176V	MGEA5_ENST00000370094.3_Missense_Mutation_p.I176V|MGEA5_ENST00000357797.5_Missense_Mutation_p.I176V|MGEA5_ENST00000439817.1_Missense_Mutation_p.I176V|MGEA5_ENST00000419011.2_3'UTR	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	176					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTATGGTCTATATCATCAAAA	0.353													False	0	False	10:103567613	0	C	103567613	T	C	103567613	3	2	88	1	0	0	0	0	1	0	0	0	9622	1406	49	4	2272	4	MGEA5	10	103567613	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1759	103567613	31967134	10913	18625											
C10orf76	79591	broad.mit.edu	37	chr10	103766356	103766356	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggttgtaggagcaggactgAcaggggtcgtcaccaagccc	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103766356A>G	ENST00000370033.4	-	14	1108	c.989T>C	c.(988-990)gTc>gCc	p.V330A		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	330						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AGCAGGACTGACAGGGGTCGT	0.483													False	0	False	10:103766356	0	G	103766356	A	G	103766356	3	3	88	1	0	0	0	0	1	0	0	0	1624	275	10	4	1132	4	C10orf76	10	103766356	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	198743	103766356	31768391	10914	18626											
C10orf76	79591	broad.mit.edu	37	chr10	103783272	103783272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcaaagccaagaggaCgacagcatcatacccatgct	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103783272C>T	ENST00000370033.4	-	8	750	c.631G>A	c.(631-633)Gtc>Atc	p.V211I		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	211						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GCCAAGAGGACGACAGCATCA	0.458													False	0	False	10:103783272	0	T	103783272	C	T	103783272	3	4	88	1	0	0	0	0	1	0	0	0	1624	536	19	1	1514	1	C10orf76	10	103783272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16916	103783272	31751475	10915	18627											
LDB1	8861	broad.mit.edu	37	chr10	103869426	103869426	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggagagctgatccaacatCtgggggtcttgggcctagag	15	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103869426C>A	ENST00000361198.5	-	8	1178	c.555G>T	c.(553-555)caG>caT	p.Q185H	LDB1_ENST00000425280.1_Missense_Mutation_p.Q221H	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	221					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GATCCAACATCTGGGGGTCTT	0.532													False	0	False	10:103869426	0	A	103869426	C	A	103869426	3	1	88	1	0	0	0	0	1	0	0	0	8746	912	32	3	588	3	LDB1	10	103869426	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86154	103869426	31665321	10916	18628											
PPRC1	23082	broad.mit.edu	37	chr10	103900616	103900616	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggcctagccttccagAgactcccacagggctggcag	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103900616A>C	ENST00000278070.2	+	5	2390	c.2351A>C	c.(2350-2352)gAg>gCg	p.E784A	PPRC1_ENST00000413464.2_Missense_Mutation_p.E784A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	784	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCCTTCCAGAGACTCCCACA	0.567													False	0	False	10:103900616	0	C	103900616	A	C	103900616	3	2	88	1	0	0	0	0	1	0	0	0	12484	304	11	4	2369	4	PPRC1	10	103900616	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31190	103900616	31634131	10917	18629											
PPRC1	23082	broad.mit.edu	37	chr10	103901019	103901019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccgtttactcactatgcCcccttgccatcctggccttg	7	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103901019C>T	ENST00000278070.2	+	5	2793	c.2754C>T	c.(2752-2754)gcC>gcT	p.A918A	PPRC1_ENST00000413464.2_Silent_p.A918A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	918	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTCACTATGCCCCCTTGCCAT	0.597													False	0	True	10:103901019	0	T	103901019	C	T	103901019	2	4	88	1	0	0	0	0	0	0	0	1	12484	610	22	2		2	PPRC1	10	103901019	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	403	103901019	31633728	10918	18630											
PPRC1	23082	broad.mit.edu	37	chr10	103908144	103908144	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggtccagctgtagttcCtctggacgttctcgaagatg	11	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103908144C>A	ENST00000278070.2	+	10	4455	c.4416C>A	c.(4414-4416)tcC>tcA	p.S1472S	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Silent_p.S1208S|PPRC1_ENST00000370012.1_Silent_p.S439S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1472	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCTGTAGTTCCTCTGGACGTT	0.527													False	0	False	10:103908144	0	A	103908144	C	A	103908144	2	1	88	1	0	0	0	0	0	0	0	1	12484	668	24	3		3	PPRC1	10	103908144	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7125	103908144	31626603	10919	18631											
PPRC1	23082	broad.mit.edu	37	chr10	103908623	103908623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatacctggccgcatgactcGatcagagctgaaacagaggt	12	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103908623G>A	ENST00000278070.2	+	12	4706	c.4667G>A	c.(4666-4668)cGa>cAa	p.R1556Q	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.R1292Q|PPRC1_ENST00000370012.1_Missense_Mutation_p.R523Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1556	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCATGACTCGATCAGAGCTG	0.488													False	0	False	10:103908623	0	A	103908623	G	A	103908623	3	1	88	1	0	0	0	0	1	0	0	0	12484	1058	37	1	4713	1	PPRC1	10	103908623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	479	103908623	31626124	10920	18632											
NOLC1	9221	broad.mit.edu	37	chr10	103921395	103921395	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagataaagcttcagaccccTaacacatttccaaaaaggaa	5	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103921395T>C	ENST00000405356.1	+	11	2089	c.1854T>C	c.(1852-1854)ccT>ccC	p.P618P	NOLC1_ENST00000488254.2_Silent_p.P609P|NOLC1_ENST00000605788.1_Silent_p.P608P|NOLC1_ENST00000603742.1_Silent_p.P327P|NOLC1_ENST00000477977.1_3'UTR	NM_001284388.1	NP_001271317.1	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	608					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TTCAGACCCCTAACACATTTC	0.428													False	0	True	10:103921395	0	C	103921395	T	C	103921395	2	2	88	1	0	0	0	0	0	0	0	1	10597	1509	53	4		4	NOLC1	10	103921395	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12772	103921395	31613352	10921	18633											
ELOVL3	83401	broad.mit.edu	37	chr10	103986348	103986348	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatgaagtaaatcagctgTtccagccctataacttcgag	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103986348T>C	ENST00000370005.3	+	1	264	c.43T>C	c.(43-45)Ttc>Ctc	p.F15L		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	15					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		AAATCAGCTGTTCCAGCCCTA	0.532													False	0	False	10:103986348	0	C	103986348	T	C	103986348	3	2	88	1	0	0	0	0	1	0	0	0	5107	1725	60	4	45	4	ELOVL3	10	103986348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64953	103986348	31548399	10922	18634											
PITX3	5309	broad.mit.edu	37	chr10	103991721	103991721	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagggggcgcgcttaccGctgtgctcctggcccttgca	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103991721G>A	ENST00000370002.3	-	2	270	c.117C>T	c.(115-117)agC>agT	p.S39S	PITX3_ENST00000539804.1_Splice_Site_p.S39S	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	39					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCGCTTACCGCTGTGCTCCT	0.716													False	0	False	10:103991721	0	A	103991721	G	A	103991721	5	1	88	1	0	0	0	0	0	0	1	0	12025	1101	38	1	803	1	PITX3	10	103991721	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5373	103991721	31543026	10923	18635											
GBF1	8729	broad.mit.edu	37	chr10	104119161	104119161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattacgtcaatccccggggCgtgcgctttacacagtcctc	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104119161C>T	ENST00000369983.3	+	11	1406	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	382					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATCCCCGGGGCGTGCGCTTTA	0.562													False	0	True	10:104119161	0	T	104119161	C	T	104119161	2	4	88	1	0	0	0	0	0	0	0	1	6314	755	27	1		1	GBF1	10	104119161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127440	104119161	31415586	10924	18636											
GBF1	8729	broad.mit.edu	37	chr10	104121533	104121533	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccccaagatgccttatgAgatgaaggagatggcactgg	13	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104121533A>G	ENST00000369983.3	+	14	1807	c.1547A>G	c.(1546-1548)gAg>gGg	p.E516G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	516					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGCCTTATGAGATGAAGGAG	0.473													False	0	False	10:104121533	0	G	104121533	A	G	104121533	3	3	88	1	0	0	0	0	1	0	0	0	6314	304	11	4	1597	4	GBF1	10	104121533	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2372	104121533	31413214	10925	18637											
GBF1	8729	broad.mit.edu	37	chr10	104136495	104136495	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctgcccacatcacacCtgacaactttgagctctgcg	8	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104136495C>A	ENST00000369983.3	+	32	4483	c.4223C>A	c.(4222-4224)cCt>cAt	p.P1408H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1408					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CACATCACACCTGACAACTTT	0.552													False	0	False	10:104136495	0	A	104136495	C	A	104136495	3	1	88	1	0	0	0	0	1	0	0	0	6314	681	24	3	4345	3	GBF1	10	104136495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14962	104136495	31398252	10926	18638											
GBF1	8729	broad.mit.edu	37	chr10	104136509	104136509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacacctgacaactttgagCtctgcgtcaagactctccgg	8	14	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104136509C>T	ENST00000369983.3	+	32	4497	c.4237C>T	c.(4237-4239)Ctc>Ttc	p.L1413F		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1413					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAACTTTGAGCTCTGCGTCAA	0.547													False	0	False	10:104136509	0	T	104136509	C	T	104136509	3	4	88	1	0	0	0	0	1	0	0	0	6314	797	28	2	4359	2	GBF1	10	104136509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	104136509	31398238	10927	18639											
NFKB2	4791	broad.mit.edu	37	chr10	104156690	104156690	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgagggaccagccaagatCgaggtggacctggtaacaca	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104156690C>T	ENST00000369966.3	+	6	523	c.273C>T	c.(271-273)atC>atT	p.I91I	NFKB2_ENST00000189444.6_Silent_p.I91I|NFKB2_ENST00000428099.1_Silent_p.I91I	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	91	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CAGCCAAGATCGAGGTGGACC	0.597			T	IGH@	B-NHL								False	0	False	10:104156690	0	T	104156690	C	T	104156690	2	4	88	1	0	0	0	0	0	0	0	1	10444	874	31	1		1	NFKB2	10	104156690	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20181	104156690	31378057	10928	18640											
NFKB2	4791	broad.mit.edu	37	chr10	104157352	104157352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggatctgagtatagtgCggctgcgcttctctgccttc	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104157352C>T	ENST00000369966.3	+	8	821	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	NFKB2_ENST00000189444.6_Missense_Mutation_p.R191W|NFKB2_ENST00000428099.1_Missense_Mutation_p.R191W	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	191	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GAGTATAGTGCGGCTGCGCTT	0.582			T	IGH@	B-NHL								False	0	False	10:104157352	0	T	104157352	C	T	104157352	3	4	88	1	0	0	0	0	1	0	0	0	10444	759	27	1	597	1	NFKB2	10	104157352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	662	104157352	31377395	10929	18641											
CUEDC2	79004	broad.mit.edu	37	chr10	104183780	104183780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccctcccaggctgcaggCccctcttcctttccctctac	8	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104183780C>T	ENST00000369937.4	-	6	712	c.567G>A	c.(565-567)ggG>ggA	p.G189G	CUEDC2_ENST00000465409.1_5'UTR	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	189						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGGCTGCAGGCCCCTCTTCCT	0.597													False	0	True	10:104183780	0	T	104183780	C	T	104183780	2	4	88	1	0	0	0	0	0	0	0	1	4078	726	26	2		2	CUEDC2	10	104183780	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26428	104183780	31350967	10930	18642											
TMEM180	79847	broad.mit.edu	37	chr10	104230514	104230514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcgctgtcgttcctggCgttctgggtgccctgggccc	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104230514C>T	ENST00000238936.4	+	5	581	c.344C>T	c.(343-345)gCg>gTg	p.A115V	TMEM180_ENST00000369931.3_Intron|TMEM180_ENST00000366277.2_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	115						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCGTTCCTGGCGTTCTGGGTG	0.692													False	0	False	10:104230514	0	T	104230514	C	T	104230514	3	4	88	1	0	0	0	0	1	0	0	0	16181	768	27	1	354	1	TMEM180	10	104230514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46734	104230514	31304233	10931	18643											
SUFU	51684	broad.mit.edu	37	chr10	104352378	104352378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaccatgtgtcctggcacaGccctttggataacagtgagt	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104352378G>T	ENST00000369902.3	+	4	660	c.494G>T	c.(493-495)aGc>aTc	p.S165I	SUFU_ENST00000423559.2_Missense_Mutation_p.S165I|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Missense_Mutation_p.S165I	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	165					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCCTGGCACAGCCCTTTGGAT	0.542			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				False	0	True	10:104352378	0	T	104352378	G	T	104352378	3	4	88	1	0	0	0	0	1	0	0	0	15450	971	34	3	508	3	SUFU	10	104352378	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121864	104352378	31182369	10932	18644											
TRIM8	81603	broad.mit.edu	37	chr10	104416127	104416127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaaggagaagcagctgCggaaaatgctagaaggtgag	15	6	0	4	rs145135383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104416127C>T	ENST00000302424.7	+	5	1155	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8							cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAAGCAGCTGCGGAAAATGCT	0.597													False	0	False	10:104416127	0	T	104416127	C	T	104416127	3	4	88	1	0	0	0	0	1	0	0	0	16631	759	27	1	1051	1	TRIM8	10	104416127	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63749	104416127	31118620	10933	18645											
CYP17A1	1586	broad.mit.edu	37	chr10	104594579	104594579	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtccaccaggctgtctttgCtcaggttgtctatgatgcct	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104594579C>A	ENST00000369887.3	-	3	800	c.629G>T	c.(628-630)aGc>aTc	p.S210I	CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	210					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GCTGTCTTTGCTCAGGTTGTC	0.483											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	10:104594579	0	A	104594579	C	A	104594579	3	1	88	1	0	0	0	0	1	0	0	0	4172	797	28	3	921	3	CYP17A1	10	104594579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178452	104594579	30940168	10934	18646											
AS3MT	57412	broad.mit.edu	37	chr10	104650340	104650340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggatgaagaaacagcagctAtcttgaagaattcaagattt	9	5	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104650340A>G	ENST00000369880.3	+	10	1002	c.925A>G	c.(925-927)Atc>Gtc	p.I309V	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	309					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AACAGCAGCTATCTTGAAGAA	0.358													False	0	False	10:104650340	0	G	104650340	A	G	104650340	3	3	88	1	0	0	0	0	1	0	0	0	1009	449	16	4	963	4	AS3MT	10	104650340	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55761	104650340	30884407	10935	18647											
CNNM2	54805	broad.mit.edu	37	chr10	104679703	104679703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgtttgaaggggagcgctCcaatatcgtggacctgctgt	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679703C>T	ENST00000369878.4	+	1	1654	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	CNNM2_ENST00000433628.2_Missense_Mutation_p.S489F|CNNM2_ENST00000369875.3_Missense_Mutation_p.S489F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2		CBS 1.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGAGCGCTCCAATATCGTG	0.517													False	0	False	10:104679703	0	T	104679703	C	T	104679703	3	4	88	1	0	0	0	0	1	0	0	0	3636	855	30	2	1468	2	CNNM2	10	104679703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29363	104679703	30855044	10936	18648											
CNNM2	54805	broad.mit.edu	37	chr10	104679834	104679834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgacaccaagttggacGctatgctggaagaatttaag	10	7	1	2	rs146507239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679834G>A	ENST00000369878.4	+	1	1785	c.1597G>A	c.(1597-1599)Gct>Act	p.A533T	CNNM2_ENST00000433628.2_Missense_Mutation_p.A533T|CNNM2_ENST00000369875.3_Missense_Mutation_p.A533T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2		CBS 2.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAAGTTGGACGCTATGCTGGA	0.463													False	0	False	10:104679834	0	A	104679834	G	A	104679834	3	1	88	1	0	0	0	0	1	0	0	0	3636	1087	38	1	1599	1	CNNM2	10	104679834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131	104679834	30854913	10937	18649											
CNNM2	54805	broad.mit.edu	37	chr10	104836929	104836929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcctgcacaacgaaggcGccatctaggccgcgctggct	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104836929G>A	ENST00000369878.4	+	8	2808	c.2620G>A	c.(2620-2622)Gcc>Acc	p.A874T	CNNM2_ENST00000433628.2_Missense_Mutation_p.A852T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2						ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAACGAAGGCGCCATCTAGGC	0.652													False	0	False	10:104836929	0	A	104836929	G	A	104836929	3	1	88	1	0	0	0	0	1	0	0	0	3636	1087	38	1	2692	1	CNNM2	10	104836929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157095	104836929	30697818	10938	18650											
INA	9118	broad.mit.edu	37	chr10	105036934	105036934	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttcttctgtagctcgcGttgaagccgcacgtccggcc	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105036934G>A	ENST00000369849.4	+	0	15					NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha						cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGTAGCTCGCGTTGAAGCCGC	0.716													False	0	False	10:105036934	0	A	105036934	G	A	105036934	1	1	88	1	0	0	0	0	0	0	0	0	7780	1160	40	1		1	INA	10	105036934	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200005	105036934	30497813	10939	18651											
INA	9118	broad.mit.edu	37	chr10	105037253	105037253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcatccgcaccaacgagaaGgagcagctgcagggcctcaa	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105037253G>T	ENST00000369849.4	+	1	334	c.285G>T	c.(283-285)aaG>aaT	p.K95N		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	95	Coil 1A.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAACGAGAAGGAGCAGCTGC	0.687													False	0	False	10:105037253	0	T	105037253	G	T	105037253	3	4	88	1	0	0	0	0	1	0	0	0	7780	991	35	3	287	3	INA	10	105037253	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	319	105037253	30497494	10940	18652											
PCGF6	84108	broad.mit.edu	37	chr10	105063703	105063703	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccacaagaccataatgaaGgacaagcagaccatcctgaa	7	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105063703G>T	ENST00000369847.3	-	10	1079	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Missense_Mutation_p.L263I	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	338					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		CCATAATGAAGGACAAGCAGA	0.408													False	0	False	10:105063703	0	T	105063703	G	T	105063703	3	4	88	1	0	0	0	0	1	0	0	0	11646	1000	35	3	44	3	PCGF6	10	105063703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26450	105063703	30471044	10941	18653											
USMG5	84833	broad.mit.edu	37	chr10	105152192	105152192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagtgaactggtattgcGcatcactttctggacctgcc	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105152192G>A	ENST00000369825.1	-	3	505	c.23C>T	c.(22-24)gCg>gTg	p.A8V	USMG5_ENST00000369811.1_Missense_Mutation_p.A8V|USMG5_ENST00000337003.4_Missense_Mutation_p.A8V|USMG5_ENST00000369815.1_Missense_Mutation_p.A8V|USMG5_ENST00000309579.3_Missense_Mutation_p.A8V			Q96IX5	USMG5_HUMAN	up-regulated during skeletal muscle growth 5 homolog (mouse)	8						integral to membrane				breast(1)	1		Colorectal(252;0.142)		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)		CTGGTATTGCGCATCACTTTC	0.279													False	0	False	10:105152192	0	A	105152192	G	A	105152192	3	1	88	1	0	0	0	0	1	0	0	0	17122	1087	38	1	161	1	USMG5	10	105152192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88489	105152192	30382555	10942	18654											
PDCD11	22984	broad.mit.edu	37	chr10	105164918	105164918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaacagagtgctgagtgCtgaggccctgaagcctggca	14	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105164918C>A	ENST00000369797.3	+	5	636	c.542C>A	c.(541-543)gCt>gAt	p.A181D		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	181					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTGCTGAGTGCTGAGGCCCTG	0.562													False	0	True	10:105164918	0	A	105164918	C	A	105164918	3	1	88	1	0	0	0	0	1	0	0	0	11685	797	28	3	556	3	PDCD11	10	105164918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12726	105164918	30369829	10943	18655											
PDCD11	22984	broad.mit.edu	37	chr10	105172912	105172912	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgtccatcctcgaaccagaGttgtgcacctgagcctgcgc	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105172912G>T	ENST00000369797.3	+	9	1112	c.1018G>T	c.(1018-1020)Gtt>Ttt	p.V340F		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	340	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCGAACCAGAGTTGTGCACCT	0.592													False	0	False	10:105172912	0	T	105172912	G	T	105172912	3	4	88	1	0	0	0	0	1	0	0	0	11685	1029	36	3	1048	3	PDCD11	10	105172912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7994	105172912	30361835	10944	18656											
PDCD11	22984	broad.mit.edu	37	chr10	105177682	105177682	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggaaaagccattaacaTtgggcaggtacgtggacttc	12	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105177682T>A	ENST00000369797.3	+	14	1998	c.1904T>A	c.(1903-1905)aTt>aAt	p.I635N		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	635					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GCCATTAACATTGGGCAGGTA	0.478													False	0	False	10:105177682	0	A	105177682	T	A	105177682	3	1	88	1	0	0	0	0	1	0	0	0	11685	1493	52	5	1954	5	PDCD11	10	105177682	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4770	105177682	30357065	10945	18657											
PDCD11	22984	broad.mit.edu	37	chr10	105198541	105198541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggggctatgtagggtccaTccagccacacggtgtgttct	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105198541T>C	ENST00000369797.3	+	27	4095	c.4001T>C	c.(4000-4002)aTc>aCc	p.I1334T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1334	S1 motif 12.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTAGGGTCCATCCAGCCACAC	0.552													False	0	True	10:105198541	0	C	105198541	T	C	105198541	3	2	88	1	0	0	0	0	1	0	0	0	11685	1435	50	4	4103	4	PDCD11	10	105198541	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20859	105198541	30336206	10946	18658											
CALHM2	51063	broad.mit.edu	37	chr10	105206962	105206962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggccgcgccgttgcctgCcagaccctgggcccacttgt	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105206962C>T	ENST00000260743.5	-	4	1442	c.919G>A	c.(919-921)Gca>Aca	p.A307T	CALHM2_ENST00000369788.3_Missense_Mutation_p.A307T	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	307						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCGTTGCCTGCCAGACCCTGG	0.617													False	0	True	10:105206962	0	T	105206962	C	T	105206962	3	4	88	1	0	0	0	0	1	0	0	0	2603	739	26	2	56	2	CALHM2	10	105206962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8421	105206962	30327785	10947	18659											
CALHM2	51063	broad.mit.edu	37	chr10	105207135	105207135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccacaaagccaaagaagCggcgcacattgttggcagcg	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105207135C>T	ENST00000260743.5	-	4	1269	c.746G>A	c.(745-747)cGc>cAc	p.R249H	CALHM2_ENST00000369788.3_Missense_Mutation_p.R249H	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	249						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCCAAAGAAGCGGCGCACATT	0.612													False	0	False	10:105207135	0	T	105207135	C	T	105207135	3	4	88	1	0	0	0	0	1	0	0	0	2603	768	27	1	229	1	CALHM2	10	105207135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	173	105207135	30327612	10948	18660											
CALHM1	255022	broad.mit.edu	37	chr10	105218206	105218206	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggcgcgctgggccatggaGcagaacatgtagcgcaacac	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105218206G>T	ENST00000329905.5	-	1	439	c.303C>A	c.(301-303)tgC>tgA	p.C101*	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	101						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGGCCATGGAGCAGAACATGT	0.657													False	0	False	10:105218206	0	T	105218206	G	T	105218206	4	4	88	1	0	0	0	0	0	1	0	0	2602	963	34	3	745	3	CALHM1	10	105218206	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11071	105218206	30316541	10949	18661											
CALHM1	255022	broad.mit.edu	37	chr10	105218421	105218421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagtacatctgggcactggCcagggccatgatgccacaga	13	12	1	2	rs146465393	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105218421C>T	ENST00000329905.5	-	1	224	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	30						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TGGGCACTGGCCAGGGCCATG	0.612													False	0	False	10:105218421	0	T	105218421	C	T	105218421	3	4	88	1	0	0	0	0	1	0	0	0	2602	739	26	2	960	2	CALHM1	10	105218421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215	105218421	30316326	10950	18662											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362601	105362601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcactcttggagcccttgaGccctccacggagctggcctg	11	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105362601G>T	ENST00000369774.4	-	15	2650	c.2374C>A	c.(2374-2376)Ctc>Atc	p.L792I	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L627I|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L764I|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L659I			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	792					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAGCCCTTGAGCCCTCCACGG	0.612													False	0	True	10:105362601	0	T	105362601	G	T	105362601	3	4	88	1	0	0	0	0	1	0	0	0	14337	971	34	3	1031	3	SH3PXD2A	10	105362601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144180	105362601	30172146	10951	18663											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362640	105362640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggtctcagctggcgccGtaaagtgctgatgtccatct	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105362640G>A	ENST00000369774.4	-	15	2611	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	779					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AGCTGGCGCCGTAAAGTGCTG	0.647													False	0	False	10:105362640	0	A	105362640	G	A	105362640	3	1	88	1	0	0	0	0	1	0	0	0	14337	1144	40	1	1070	1	SH3PXD2A	10	105362640	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	105362640	30172107	10952	18664											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105363480	105363480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcttatcgatgtatgatgCgggggcccagccctccttct	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105363480C>T	ENST00000369774.4	-	15	1771	c.1495G>A	c.(1495-1497)Gca>Aca	p.A499T	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A334T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A471T|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A366T			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	499	SH3 3.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATGTATGATGCGGGGGCCCAG	0.622													False	0	True	10:105363480	0	T	105363480	C	T	105363480	3	4	88	1	0	0	0	0	1	0	0	0	14337	768	27	1	1910	1	SH3PXD2A	10	105363480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	840	105363480	30171267	10953	18665											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105372695	105372695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgtcaggaacgcccacGgcactgccattggaggcatt	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105372695G>A	ENST00000369774.4	-	12	1449	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A	SH3PXD2A_ENST00000538130.1_Silent_p.A226A|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Silent_p.A253A|SH3PXD2A_ENST00000355946.2_Silent_p.A363A|SH3PXD2A_ENST00000540321.1_Silent_p.A258A			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	391					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAACGCCCACGGCACTGCCAT	0.632													False	0	False	10:105372695	0	A	105372695	G	A	105372695	2	1	88	1	0	0	0	0	0	0	0	1	14337	1103	39	1		1	SH3PXD2A	10	105372695	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9215	105372695	30162052	10954	18666											
OBFC1	79991	broad.mit.edu	37	chr10	105657393	105657393	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctcctgctggtaaaagctCtgcactctgttctccatgag	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105657393C>T	ENST00000224950.3	-	7	833	c.666G>A	c.(664-666)caG>caA	p.Q222Q	OBFC1_ENST00000369764.1_Silent_p.Q222Q|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	222					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GGTAAAAGCTCTGCACTCTGT	0.532													False	0	False	10:105657393	0	T	105657393	C	T	105657393	2	4	88	1	0	0	0	0	0	0	0	1	10875	912	32	2		2	OBFC1	10	105657393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284698	105657393	29877354	10955	18667											
OBFC1	79991	broad.mit.edu	37	chr10	105670293	105670293	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattgttcttacctccataaCtgtagaaagcatctctttct	4	10	3	1	rs147663272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105670293C>A	ENST00000224950.3	-	3	388	c.221G>T	c.(220-222)aGt>aTt	p.S74I	OBFC1_ENST00000369764.1_Missense_Mutation_p.S74I|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	74					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		ACCTCCATAACTGTAGAAAGC	0.393													False	0	False	10:105670293	0	A	105670293	C	A	105670293	3	1	88	1	0	0	0	0	1	0	0	0	10875	565	20	3	917	3	OBFC1	10	105670293	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12900	105670293	29864454	10956	18668											
SLK	9748	broad.mit.edu	37	chr10	105761972	105761972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttctgaccttagtatcGccagctctgaagaagataaa	7	10	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105761972G>A	ENST00000369755.3	+	9	1581	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	SLK_ENST00000335753.4_Missense_Mutation_p.A346T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	346	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTTAGTATCGCCAGCTCTGA	0.353													False	0	False	10:105761972	0	A	105761972	G	A	105761972	3	1	88	1	0	0	0	0	1	0	0	0	14828	1087	38	1	1070	1	SLK	10	105761972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91679	105761972	29772775	10957	18669											
SLK	9748	broad.mit.edu	37	chr10	105779604	105779604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgcagtgaagccaagactcGaatggccatgtttaagaaga	12	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105779604G>A	ENST00000369755.3	+	16	3790	c.3245G>A	c.(3244-3246)cGa>cAa	p.R1082Q	SLK_ENST00000335753.4_Missense_Mutation_p.R1051Q	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1082					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCCAAGACTCGAATGGCCATG	0.403													False	0	False	10:105779604	0	A	105779604	G	A	105779604	3	1	88	1	0	0	0	0	1	0	0	0	14828	1058	37	1	3307	1	SLK	10	105779604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17632	105779604	29755143	10958	18670											
COL17A1	1308	broad.mit.edu	37	chr10	105801279	105801279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggtgggcctgggggacCttgtaaattaagaacttcta	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105801279C>T	ENST00000353479.5	-	37	2859	c.2569G>A	c.(2569-2571)Ggt>Agt	p.G857S	COL17A1_ENST00000369733.3_Missense_Mutation_p.G857S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	857	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGGGGGACCTTGTAAATTA	0.522													False	0	False	10:105801279	0	T	105801279	C	T	105801279	3	4	88	1	0	0	0	0	1	0	0	0	3697	681	24	2	2004	2	COL17A1	10	105801279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21675	105801279	29733468	10959	18671											
COL17A1	1308	broad.mit.edu	37	chr10	105813871	105813871	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagtcccagggaaccctcGatctcctgcaggaacaaagg	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105813871G>A	ENST00000353479.5	-	21	2040	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	COL17A1_ENST00000369733.3_Nonsense_Mutation_p.R584*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	584	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGAACCCTCGATCTCCTGCA	0.532													False	0	False	10:105813871	0	A	105813871	G	A	105813871	4	1	88	1	0	0	0	0	0	1	0	0	3697	1066	37	1	2887	1	COL17A1	10	105813871	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12592	105813871	29720876	10960	18672											
COL17A1	1308	broad.mit.edu	37	chr10	105836072	105836072	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgataccttcatacgcatgGcgggtaacgtgagttttcct	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105836072G>T	ENST00000353479.5	-	5	608	c.318C>A	c.(316-318)cgC>cgA	p.R106R	COL17A1_ENST00000393211.3_Silent_p.R106R|COL17A1_ENST00000369733.3_Silent_p.R106R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	106	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATACGCATGGCGGGTAACGT	0.507													False	0	False	10:105836072	0	T	105836072	G	T	105836072	2	4	88	1	0	0	0	0	0	0	0	1	3697	1190	42	3		3	COL17A1	10	105836072	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22201	105836072	29698675	10961	18673											
GSTO2	119391	broad.mit.edu	37	chr10	106037862	106037862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaaaagatgttattggaGctattttgtaaggtatattc	9	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106037862G>A	ENST00000369707.2	+	2	384	c.270G>A	c.(268-270)gaG>gaA	p.E90E	GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000401888.2_Silent_p.E118E|GSTO2_ENST00000429569.2_Silent_p.E90E|GSTO2_ENST00000338595.2_Silent_p.E118E|GSTO2_ENST00000450629.2_Silent_p.E118E	NM_001191014.1	NP_001177943.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2		GST N-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TGTTATTGGAGCTATTTTGTA	0.373													False	0	False	10:106037862	0	A	106037862	G	A	106037862	2	1	88	1	0	0	0	0	0	0	0	1	6890	962	34	2		2	GSTO2	10	106037862	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201790	106037862	29496885	10962	18674											
GSTO2	119391	broad.mit.edu	37	chr10	106058905	106058905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgagccacacgccaGccctgcggctctggatatca	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106058905G>A	ENST00000369707.2	+	5	625	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	GSTO2_ENST00000429569.2_Missense_Mutation_p.S101N|GSTO2_ENST00000338595.2_Missense_Mutation_p.A199T|GSTO2_ENST00000450629.2_Missense_Mutation_p.A165T	NM_001191014.1	NP_001177943.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2		GST C-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	CCACACGCCAGCCCTGCGGCT	0.512													False	0	True	10:106058905	0	A	106058905	G	A	106058905	3	1	88	1	0	0	0	0	1	0	0	0	6890	971	34	2	617	2	GSTO2	10	106058905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21043	106058905	29475842	10963	18675											
ITPRIP	85450	broad.mit.edu	37	chr10	106074778	106074778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggaatcaggttgaagggCatgaacttccctgaacggaa	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106074778C>T	ENST00000278071.2	-	3	1484	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	ITPRIP_ENST00000337478.1_Missense_Mutation_p.M344I|ITPRIP_ENST00000358187.2_Missense_Mutation_p.M344I	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	344						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GGTTGAAGGGCATGAACTTCC	0.592													False	0	True	10:106074778	0	T	106074778	C	T	106074778	3	4	88	1	0	0	0	0	1	0	0	0	7973	710	25	2	615	2	ITPRIP	10	106074778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15873	106074778	29459969	10964	18676											
ITPRIP	85450	broad.mit.edu	37	chr10	106075278	106075278	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcggtgtcccggttgcagaGgctcctcagggcttccagca	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075278G>T	ENST00000278071.2	-	3	984	c.532C>A	c.(532-534)Ctc>Atc	p.L178I	ITPRIP_ENST00000337478.1_Missense_Mutation_p.L178I|ITPRIP_ENST00000358187.2_Missense_Mutation_p.L178I	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	178						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CGGTTGCAGAGGCTCCTCAGG	0.612													False	0	False	10:106075278	0	T	106075278	G	T	106075278	3	4	88	1	0	0	0	0	1	0	0	0	7973	1000	35	3	1115	3	ITPRIP	10	106075278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	500	106075278	29459469	10965	18677											
ITPRIP	85450	broad.mit.edu	37	chr10	106075312	106075312	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccagcaagtcatccacgaaGccttccaggaactcccgggt	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075312G>T	ENST00000278071.2	-	3	950	c.498C>A	c.(496-498)ggC>ggA	p.G166G	ITPRIP_ENST00000337478.1_Silent_p.G166G|ITPRIP_ENST00000358187.2_Silent_p.G166G	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	166						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CATCCACGAAGCCTTCCAGGA	0.622													False	0	False	10:106075312	0	T	106075312	G	T	106075312	2	4	88	1	0	0	0	0	0	0	0	1	7973	958	34	3		3	ITPRIP	10	106075312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	106075312	29459435	10966	18678											
ITPRIP	85450	broad.mit.edu	37	chr10	106075652	106075652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcctcctccaggcgcAactgctccagctgcagcttc	7	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075652A>G	ENST00000278071.2	-	3	610	c.158T>C	c.(157-159)tTg>tCg	p.L53S	ITPRIP_ENST00000337478.1_Missense_Mutation_p.L53S|ITPRIP_ENST00000358187.2_Missense_Mutation_p.L53S	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	53						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CTCCAGGCGCAACTGCTCCAG	0.672													False	0	False	10:106075652	0	G	106075652	A	G	106075652	3	3	88	1	0	0	0	0	1	0	0	0	7973	131	5	4	1489	4	ITPRIP	10	106075652	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	340	106075652	29459095	10967	18679											
SORCS3	22986	broad.mit.edu	37	chr10	106937871	106937871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacaagtatggtttcacttCggttcctctctttgttgacg	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106937871C>T	ENST00000369701.3	+	14	2176	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	650						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTTTCACTTCGGTTCCTCTC	0.473													False	0	False	10:106937871	0	T	106937871	C	T	106937871	3	4	88	1	0	0	0	0	1	0	0	0	15012	893	31	1	2003	1	SORCS3	10	106937871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	862219	106937871	28596876	10968	18680											
SORCS3	22986	broad.mit.edu	37	chr10	106959834	106959834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctatcttcagccggcattGcaccaaggaggactatcaga	9	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106959834G>A	ENST00000369701.3	+	15	2314	c.2087G>A	c.(2086-2088)tGc>tAc	p.C696Y	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	696						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCCGGCATTGCACCAAGGAG	0.532													False	0	False	10:106959834	0	A	106959834	G	A	106959834	3	1	88	1	0	0	0	0	1	0	0	0	15012	1319	46	2	2145	2	SORCS3	10	106959834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21963	106959834	28574913	10969	18681											
SORCS3	22986	broad.mit.edu	37	chr10	106974214	106974214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttaggtatcggcggattgTgtccaacaactgcacagatg	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106974214T>C	ENST00000369701.3	+	18	2617	c.2390T>C	c.(2389-2391)gTg>gCg	p.V797A	SORCS3_ENST00000369699.4_Missense_Mutation_p.V83A	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	797						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CGGCGGATTGTGTCCAACAAC	0.493													False	0	False	10:106974214	0	C	106974214	T	C	106974214	3	2	88	1	0	0	0	0	1	0	0	0	15012	1696	59	4	2460	4	SORCS3	10	106974214	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14380	106974214	28560533	10970	18682											
SORCS3	22986	broad.mit.edu	37	chr10	107016608	107016608	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactccagtgctgggcacagCagctcagccatgcttatgct	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:107016608C>T	ENST00000369701.3	+	25	3596	c.3369C>T	c.(3367-3369)agC>agT	p.S1123S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1123						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTGGGCACAGCAGCTCAGCCA	0.428													False	0	False	10:107016608	0	T	107016608	C	T	107016608	2	4	88	1	0	0	0	0	0	0	0	1	15012	709	25	2		2	SORCS3	10	107016608	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42394	107016608	28518139	10971	18683											
SORCS1	114815	broad.mit.edu	37	chr10	108923970	108923970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctccgtctcctccggccGgagcgtgcagcaaccgccat	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:108923970G>A	ENST00000263054.6	-	1	322	c.315C>T	c.(313-315)tcC>tcT	p.S105S	SORCS1_ENST00000344440.6_Silent_p.S105S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	105						integral to membrane	neuropeptide receptor activity|protein binding	p.S105S(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCTCCGGCCGGAGCGTGCAG	0.701													False	0	True	10:108923970	0	A	108923970	G	A	108923970	2	1	88	1	0	0	0	0	0	0	0	1	15010	1103	39	1		1	SORCS1	10	108923970	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1907362	108923970	26610777	10972	18684											
ADD3	120	broad.mit.edu	37	chr10	111877175	111877175	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctgaagctacagcctccAatttggtataattttccatt	5	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:111877175A>G	ENST00000277900.8	+	5	927	c.562A>G	c.(562-564)Aat>Gat	p.N188D	ADD3_ENST00000360162.3_Missense_Mutation_p.N188D|ADD3_ENST00000356080.4_Missense_Mutation_p.N188D|ADD3_ENST00000497125.1_3'UTR	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	188						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TACAGCCTCCAATTTGGTATA	0.368													False	0	False	10:111877175	0	G	111877175	A	G	111877175	3	3	88	1	0	0	0	0	1	0	0	0	306	130	5	4	576	4	ADD3	10	111877175	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2953205	111877175	23657572	10973	18685											
SMC3	9126	broad.mit.edu	37	chr10	112328724	112328724	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagggttttcgaagttacaGagatcaaacaattgtagatc	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112328724G>T	ENST00000361804.4	+	2	170	c.44G>T	c.(43-45)aGa>aTa	p.R15I	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	15					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CGAAGTTACAGAGATCAAACA	0.313													False	0	False	10:112328724	0	T	112328724	G	T	112328724	3	4	88	1	0	0	0	0	1	0	0	0	14864	942	33	3	50	3	SMC3	10	112328724	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	451549	112328724	23206023	10974	18686											
SMC3	9126	broad.mit.edu	37	chr10	112335133	112335133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgagtttagtcatcttcGtccagaacagcggttggctt	11	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112335133G>A	ENST00000361804.4	+	4	296	c.170G>A	c.(169-171)cGt>cAt	p.R57H	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	57					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGTCATCTTCGTCCAGAACAG	0.299													False	0	False	10:112335133	0	A	112335133	G	A	112335133	3	1	88	1	0	0	0	0	1	0	0	0	14864	1145	40	1	184	1	SMC3	10	112335133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6409	112335133	23199614	10975	18687											
SHOC2	8036	broad.mit.edu	37	chr10	112724738	112724738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaatcgtataactactgtgGaaaaggacatcaaaaacttg	7	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112724738G>A	ENST00000369452.4	+	2	967	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	SHOC2_ENST00000265277.5_Missense_Mutation_p.E208K|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	208					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AACTACTGTGGAAAAGGACAT	0.378													False	0	True	10:112724738	0	A	112724738	G	A	112724738	3	1	88	1	0	0	0	0	1	0	0	0	14368	1175	41	2	624	2	SHOC2	10	112724738	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	389605	112724738	22810009	10976	18688											
SHOC2	8036	broad.mit.edu	37	chr10	112771563	112771563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagatgcagggtccatatcGtgccatggtctgatataaat	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112771563G>A	ENST00000369452.4	+	9	2081	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	SHOC2_ENST00000265277.5_Missense_Mutation_p.R533H	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	579					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GGTCCATATCGTGCCATGGTC	0.398													False	0	False	10:112771563	0	A	112771563	G	A	112771563	3	1	88	1	0	0	0	0	1	0	0	0	14368	1145	40	1	1766	1	SHOC2	10	112771563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46825	112771563	22763184	10977	18689											
ADRA2A	150	broad.mit.edu	37	chr10	112839042	112839042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaattcttcttctggttcGgctactgcaacagctcgttg	8	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112839042G>A	ENST00000280155.2	+	1	2253	c.1288G>A	c.(1288-1290)Ggc>Agc	p.G430S		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	415					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CTTCTGGTTCGGCTACTGCAA	0.572													False	0	False	10:112839042	0	A	112839042	G	A	112839042	3	1	88	1	0	0	0	0	1	0	0	0	337	1116	39	1	1290	1	ADRA2A	10	112839042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67479	112839042	22695705	10978	18690											
GPAM	57678	broad.mit.edu	37	chr10	113917132	113917132	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcaagactaggactgatatCttcctggtcatcgtgctagg	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113917132C>A	ENST00000348367.4	-	19	2193	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	GPAM_ENST00000369425.1_Missense_Mutation_p.D666Y|GPAM_ENST00000423155.1_Missense_Mutation_p.D666Y			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	666					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGACTGATATCTTCCTGGTCA	0.483													False	0	False	10:113917132	0	A	113917132	C	A	113917132	3	1	88	1	0	0	0	0	1	0	0	0	6634	913	32	3	506	3	GPAM	10	113917132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1078090	113917132	21617615	10979	18691											
GPAM	57678	broad.mit.edu	37	chr10	113928664	113928664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgtccatctggtgtttcatCgagccttcgtcgtatgaaga	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113928664C>T	ENST00000348367.4	-	10	1038	c.841G>A	c.(841-843)Gat>Aat	p.D281N	GPAM_ENST00000369425.1_Missense_Mutation_p.D281N|GPAM_ENST00000423155.1_Missense_Mutation_p.D281N			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	281					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGTGTTTCATCGAGCCTTCGT	0.373													False	0	False	10:113928664	0	T	113928664	C	T	113928664	3	4	88	1	0	0	0	0	1	0	0	0	6634	884	31	1	1697	1	GPAM	10	113928664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11532	113928664	21606083	10980	18692											
GPAM	57678	broad.mit.edu	37	chr10	113937793	113937793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaaacccaaagacgggAtactggggttgaaaaatttg	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113937793A>G	ENST00000348367.4	-	5	445	c.248T>C	c.(247-249)aTc>aCc	p.I83T	GPAM_ENST00000369425.1_Missense_Mutation_p.I83T|GPAM_ENST00000423155.1_Missense_Mutation_p.I83T			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	83					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CAAAGACGGGATACTGGGGTT	0.308													False	0	True	10:113937793	0	G	113937793	A	G	113937793	3	3	88	1	0	0	0	0	1	0	0	0	6634	333	12	4	2310	4	GPAM	10	113937793	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9129	113937793	21596954	10981	18693											
TECTB	6975	broad.mit.edu	37	chr10	114053586	114053586	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaggagtggaagccaaaGggttaagcattaggtaagta	14	4	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114053586G>T	ENST00000369422.3	+	5	574	c.574G>T	c.(574-576)Ggg>Tgg	p.G192W		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	192	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGAAGCCAAAGGGTTAAGCAT	0.388													False	0	True	10:114053586	0	T	114053586	G	T	114053586	3	4	88	1	0	0	0	0	1	0	0	0	15830	1000	35	3	592	3	TECTB	10	114053586	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115793	114053586	21481161	10982	18694											
TECTB	6975	broad.mit.edu	37	chr10	114053768	114053768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaacagctgttgggccaCcccctcggctgacttcatgt	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114053768C>T	ENST00000369422.3	+	6	620	c.620C>T	c.(619-621)aCc>aTc	p.T207I		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	207	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TGTTGGGCCACCCCCTCGGCT	0.448													False	0	True	10:114053768	0	T	114053768	C	T	114053768	3	4	88	1	0	0	0	0	1	0	0	0	15830	507	18	2	642	2	TECTB	10	114053768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182	114053768	21480979	10983	18695											
TECTB	6975	broad.mit.edu	37	chr10	114057903	114057903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccaattcaatgctttcCggttccagaacatccccaaa	4	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114057903C>T	ENST00000369422.3	+	7	748	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	250	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CAATGCTTTCCGGTTCCAGAA	0.537													False	0	False	10:114057903	0	T	114057903	C	T	114057903	3	4	88	1	0	0	0	0	1	0	0	0	15830	643	23	1	774	1	TECTB	10	114057903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4135	114057903	21476844	10984	18696											
ACSL5	51703	broad.mit.edu	37	chr10	114170354	114170354	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctccagcctcctagcccaGaagacctgagcgtcatctgc	8	17	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114170354G>A	ENST00000393081.1	+	9	1064	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	ACSL5_ENST00000354273.4_Missense_Mutation_p.E253K|ACSL5_ENST00000356116.1_Missense_Mutation_p.E309K|ACSL5_ENST00000433418.1_Missense_Mutation_p.E253K|ACSL5_ENST00000369410.3_Missense_Mutation_p.E35K|ACSL5_ENST00000354655.4_Missense_Mutation_p.E253K	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	253					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TCCTAGCCCAGAAGACCTGAG	0.502													False	0	False	10:114170354	0	A	114170354	G	A	114170354	3	1	88	1	0	0	0	0	1	0	0	0	180	943	33	2	959	2	ACSL5	10	114170354	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112451	114170354	21364393	10985	18697											
ZDHHC6	64429	broad.mit.edu	37	chr10	114190566	114190566	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgttttaacagcagctatCtatttttcttctccccctct	3	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114190566C>T	ENST00000369405.3	-	11	1661	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.R409K|ZDHHC6_ENST00000482410.1_Intron	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	413						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		CAGCAGCTATCTATTTTTCTT	0.373													False	0	True	10:114190566	0	T	114190566	C	T	114190566	3	4	88	1	0	0	0	0	1	0	0	0	17702	913	32	2	7	2	ZDHHC6	10	114190566	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20212	114190566	21344181	10986	18698											
VTI1A	143187	broad.mit.edu	37	chr10	114575062	114575062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctagaatcatccagaacCgcatcctgctcgtcatccta	5	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114575062C>T	ENST00000393077.2	+	8	690	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	0					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		CATCCAGAACCGCATCCTGCT	0.493			T	TCF7L2	colorectal								False	0	False	10:114575062	0	T	114575062	C	T	114575062	3	4	88	1	0	0	0	0	1	0	0	0	17319	652	23	1	604	1	VTI1A	10	114575062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	384496	114575062	20959685	10987	18699											
TCF7L2	6934	broad.mit.edu	37	chr10	114918429	114918429	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcttttttttcagaacAcagcgaatgtttcctaaatc	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114918429A>G	ENST00000355995.4	+	13	1829	c.1322A>G	c.(1321-1323)cAc>cGc	p.H441R	TCF7L2_ENST00000542695.1_Missense_Mutation_p.H157R|TCF7L2_ENST00000352065.5_Missense_Mutation_p.H418R|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000538897.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000545257.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000369397.4_Missense_Mutation_p.H418R|TCF7L2_ENST00000534894.1_Missense_Mutation_p.H441R|TCF7L2_ENST00000355717.4_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	441					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TTTTCAGAACACAGCGAATGT	0.338			T	VTI1A	colorectal								False	0	False	10:114918429	0	G	114918429	A	G	114918429	3	3	88	1	0	0	0	0	1	0	0	0	15780	159	6	4	1517	4	TCF7L2	10	114918429	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	343367	114918429	20616318	10988	18700											
HABP2	3026	broad.mit.edu	37	chr10	115345621	115345621	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactttgtgcaactcccgccAactctatgaccacatgattg	6	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115345621A>C	ENST00000351270.3	+	12	1538	c.1442A>C	c.(1441-1443)cAa>cCa	p.Q481P	HABP2_ENST00000542051.1_Missense_Mutation_p.Q455P	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	481	Peptidase S1.	Cleavage (By similarity).			cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AACTCCCGCCAACTCTATGAC	0.512													False	0	False	10:115345621	0	C	115345621	A	C	115345621	3	2	88	1	0	0	0	0	1	0	0	0	6985	130	5	4	1488	4	HABP2	10	115345621	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	427192	115345621	20189126	10989	18701											
NRAP	4892	broad.mit.edu	37	chr10	115355411	115355411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagcgcattgaggcgagCtcgggtgaaatcgggatggt	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115355411C>T	ENST00000369358.4	-	38	4775	c.4531G>A	c.(4531-4533)Gct>Act	p.A1511T	NRAP_ENST00000359988.3_Missense_Mutation_p.A1503T|NRAP_ENST00000369360.3_Missense_Mutation_p.A1476T|NRAP_ENST00000360478.3_Missense_Mutation_p.A1468T			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1503						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTGAGGCGAGCTCGGGTGAAA	0.502													False	0	False	10:115355411	0	T	115355411	C	T	115355411	3	4	88	1	0	0	0	0	1	0	0	0	10706	797	28	2	705	2	NRAP	10	115355411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9790	115355411	20179336	10990	18702											
NRAP	4892	broad.mit.edu	37	chr10	115365537	115365537	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcacatcactggctatatctCcagaggcccgggcagcctgg	11	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115365537C>A	ENST00000369358.4	-	34	4167	c.3923G>T	c.(3922-3924)gGa>gTa	p.G1308V	NRAP_ENST00000359988.3_Missense_Mutation_p.G1300V|NRAP_ENST00000369360.3_Missense_Mutation_p.G1273V|NRAP_ENST00000360478.3_Missense_Mutation_p.G1265V			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1300						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGCTATATCTCCAGAGGCCCG	0.458													False	0	False	10:115365537	0	A	115365537	C	A	115365537	3	1	88	1	0	0	0	0	1	0	0	0	10706	855	30	3	1329	3	NRAP	10	115365537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10126	115365537	20169210	10991	18703											
NRAP	4892	broad.mit.edu	37	chr10	115385861	115385861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgggagctgtcggtcAcgctggtgaacttcagctca	12	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115385861A>G	ENST00000369358.4	-	21	2457	c.2213T>C	c.(2212-2214)gTg>gCg	p.V738A	NRAP_ENST00000359988.3_Missense_Mutation_p.V730A|NRAP_ENST00000369360.3_Missense_Mutation_p.V703A|NRAP_ENST00000360478.3_Missense_Mutation_p.V695A			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	730						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCTGTCGGTCACGCTGGTGAA	0.577													False	0	False	10:115385861	0	G	115385861	A	G	115385861	3	3	88	1	0	0	0	0	1	0	0	0	10706	159	6	4	3091	4	NRAP	10	115385861	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20324	115385861	20148886	10992	18704											
CASP7	840	broad.mit.edu	37	chr10	115485189	115485189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagccatggagaagaaaatGtaatttatgggaaagatggt	12	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115485189G>A	ENST00000369321.2	+	6	864	c.544G>A	c.(544-546)Gta>Ata	p.V182I	CASP7_ENST00000452490.2_Missense_Mutation_p.V124I|CASP7_ENST00000369318.3_Missense_Mutation_p.V149I|CASP7_ENST00000345633.4_Missense_Mutation_p.V149I|CASP7_ENST00000369315.1_Missense_Mutation_p.V149I|CASP7_ENST00000369331.4_Splice_Site	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	149					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AGAAGAAAATGTAATTTATGG	0.418													False	0	False	10:115485189	0	A	115485189	G	A	115485189	3	1	88	1	0	0	0	0	1	0	0	0	2696	1391	48	2	562	2	CASP7	10	115485189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99328	115485189	20049558	10993	18705											
NHLRC2	374354	broad.mit.edu	37	chr10	115636517	115636517	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaagataaattatttttatAtacttcaattgctttaaagt	3	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115636517A>G	ENST00000369301.3	+	3	781	c.569A>G	c.(568-570)tAt>tGt	p.Y190C		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	190	Thioredoxin.				cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTATTTTTATATACTTCAATT	0.353													False	0	True	10:115636517	0	G	115636517	A	G	115636517	3	3	88	1	0	0	0	0	1	0	0	0	10474	449	16	4	579	4	NHLRC2	10	115636517	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	151328	115636517	19898230	10994	18706											
ADRB1	153	broad.mit.edu	37	chr10	115805121	115805121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccacggagaccggccgcgCgcctcgggctgtctggcccg	15	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115805121C>T	ENST00000369295.2	+	1	1316	c.1230C>T	c.(1228-1230)cgC>cgT	p.R410R		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	410					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	ACCGGCCGCGCGCCTCGGGCT	0.796													False	0	True	10:115805121	0	T	115805121	C	T	115805121	2	4	88	1	0	0	0	0	0	0	0	1	340	755	27	1		1	ADRB1	10	115805121	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168604	115805121	19729626	10995	18707											
C10orf118	55088	broad.mit.edu	37	chr10	115884935	115884935	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctctgttctagttcatgCtggtgtttaataagacgttc	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115884935C>T	ENST00000369287.3	-	16	2930	c.2664G>A	c.(2662-2664)caG>caA	p.Q888Q	C10orf118_ENST00000543782.1_3'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	888										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CTAGTTCATGCTGGTGTTTAA	0.383													False	0	False	10:115884935	0	T	115884935	C	T	115884935	2	4	88	1	0	0	0	0	0	0	0	1	1595	796	28	2		2	C10orf118	10	115884935	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79814	115884935	19649812	10996	18708											
C10orf118	55088	broad.mit.edu	37	chr10	115887367	115887367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtggaaagttatccacaGctactgaggacccagtattt	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115887367G>A	ENST00000369287.3	-	14	2512	c.2246C>T	c.(2245-2247)gCt>gTt	p.A749V	C10orf118_ENST00000543782.1_Missense_Mutation_p.A347V	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	749										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GTTATCCACAGCTACTGAGGA	0.403													False	0	False	10:115887367	0	A	115887367	G	A	115887367	3	1	88	1	0	0	0	0	1	0	0	0	1595	971	34	2	462	2	C10orf118	10	115887367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2432	115887367	19647380	10997	18709											
C10orf118	55088	broad.mit.edu	37	chr10	115904338	115904338	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttaatgtcttcctttaatTtgtctatttctctgatgagt	6	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115904338T>G	ENST00000369287.3	-	6	1405	c.1139A>C	c.(1138-1140)aAa>aCa	p.K380T	C10orf118_ENST00000543782.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	380										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTCCTTTAATTTGTCTATTTC	0.299													False	0	True	10:115904338	0	G	115904338	T	G	115904338	3	3	88	1	0	0	0	0	1	0	0	0	1595	1841	64	4	1601	4	C10orf118	10	115904338	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16971	115904338	19630409	10998	18710											
TDRD1	56165	broad.mit.edu	37	chr10	115970351	115970351	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgataaggtgatcctgaaGatgttggaaaaatgacaact	10	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115970351G>T	ENST00000251864.2	+	12	1549	c.1396G>T	c.(1396-1398)Gat>Tat	p.D466Y	TDRD1_ENST00000422662.1_Missense_Mutation_p.D127Y|TDRD1_ENST00000369280.1_Missense_Mutation_p.D466Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D466Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D466Y	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	466					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGATCCTGAAGATGTTGGAAA	0.313													False	0	False	10:115970351	0	T	115970351	G	T	115970351	3	4	88	1	0	0	0	0	1	0	0	0	15812	942	33	3	1438	3	TDRD1	10	115970351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66013	115970351	19564396	10999	18711											
TDRD1	56165	broad.mit.edu	37	chr10	115985896	115985896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactatggaaacattgaaacCctgcctctttgcagagtgca	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115985896C>T	ENST00000251864.2	+	22	3249	c.3096C>T	c.(3094-3096)acC>acT	p.T1032T	TDRD1_ENST00000422662.1_Silent_p.T636T|TDRD1_ENST00000369280.1_Silent_p.T1032T|TDRD1_ENST00000369282.1_Silent_p.T1032T|TDRD1_ENST00000369281.2_Silent_p.T918T	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1032	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACATTGAAACCCTGCCTCTTT	0.443													False	0	True	10:115985896	0	T	115985896	C	T	115985896	2	4	88	1	0	0	0	0	0	0	0	1	15812	610	22	2		2	TDRD1	10	115985896	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15545	115985896	19548851	11000	18712											
AFAP1L2	84632	broad.mit.edu	37	chr10	116060340	116060340	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcctgggcctgtgcactgCtggggccatgcagaaaggac	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116060340C>A	ENST00000369271.3	-	14	1952	c.1652G>T	c.(1651-1653)aGc>aTc	p.S551I	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.S551I|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S604I	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	551					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGTGCACTGCTGGGGCCATG	0.612													False	0	False	10:116060340	0	A	116060340	C	A	116060340	3	1	88	1	0	0	0	0	1	0	0	0	355	797	28	3	828	3	AFAP1L2	10	116060340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74444	116060340	19474407	11001	18713											
AFAP1L2	84632	broad.mit.edu	37	chr10	116092980	116092980	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgatcccagcctcatacCtttgccttgagactctgcat	7	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116092980C>A	ENST00000369271.3	-	3	520	c.220G>T	c.(220-222)Gcg>Tcg	p.A74S	AFAP1L2_ENST00000304129.4_Splice_Site_p.A74S|AFAP1L2_ENST00000545353.1_Splice_Site_p.A74S	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	74					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AGCCTCATACCTTTGCCTTGA	0.522													False	0	True	10:116092980	0	A	116092980	C	A	116092980	5	1	88	1	0	0	0	0	0	0	1	0	355	695	24	3	2304	3	AFAP1L2	10	116092980	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32640	116092980	19441767	11002	18714											
ABLIM1	3983	broad.mit.edu	37	chr10	116196108	116196108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacattccaaagatttcccGaaacacttcaggggctaagt	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116196108G>A	ENST00000369252.4	-	23	2369	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W	ABLIM1_ENST00000277895.5_Missense_Mutation_p.R750W|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R690W|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R373W|ABLIM1_ENST00000392952.3_Missense_Mutation_p.R427W|ABLIM1_ENST00000369266.3_Missense_Mutation_p.R427W	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	750					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AAGATTTCCCGAAACACTTCA	0.453													False	0	True	10:116196108	0	A	116196108	G	A	116196108	3	1	88	1	0	0	0	0	1	0	0	0	94	1057	37	1	92	1	ABLIM1	10	116196108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103128	116196108	19338639	11003	18715											
ABLIM1	3983	broad.mit.edu	37	chr10	116203826	116203826	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgtagcgactggctaacagaGatgacctttcccggctctct	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116203826G>A	ENST00000369252.4	-	17	2016	c.1715C>T	c.(1714-1716)tCt>tTt	p.S572F	ABLIM1_ENST00000277895.5_Missense_Mutation_p.S632F|ABLIM1_ENST00000533213.2_Missense_Mutation_p.S572F|ABLIM1_ENST00000369253.2_Missense_Mutation_p.S255F|ABLIM1_ENST00000392952.3_Missense_Mutation_p.S309F|ABLIM1_ENST00000369266.3_Missense_Mutation_p.S309F	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	632					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGCTAACAGAGATGACCTTTC	0.463													False	0	False	10:116203826	0	A	116203826	G	A	116203826	3	1	88	1	0	0	0	0	1	0	0	0	94	942	33	2	465	2	ABLIM1	10	116203826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7718	116203826	19330921	11004	18716											
ABLIM1	3983	broad.mit.edu	37	chr10	116417899	116417899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttctctcagatgaggtgaCtttgcttttctcagagctgc	11	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116417899C>A	ENST00000277895.5	-	1	158	c.61G>T	c.(61-63)Gtc>Ttc	p.V21F	ABLIM1_ENST00000369252.4_Intron|ABLIM1_ENST00000533213.2_Intron	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	21					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GATGAGGTGACTTTGCTTTTC	0.527													False	0	True	10:116417899	0	A	116417899	C	A	116417899	3	1	88	1	0	0	0	0	1	0	0	0	94	565	20	3	2451	3	ABLIM1	10	116417899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214073	116417899	19116848	11005	18717											
FAM160B1	57700	broad.mit.edu	37	chr10	116595962	116595962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttctttgcattgtgtgtgCgaagctgaaacaggacccct	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116595962C>T	ENST00000369248.4	+	5	814	c.479C>T	c.(478-480)gCg>gTg	p.A160V	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A160V	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	160										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ATTGTGTGTGCGAAGCTGAAA	0.338													False	0	True	10:116595962	0	T	116595962	C	T	116595962	3	4	88	1	0	0	0	0	1	0	0	0	5506	768	27	1	497	1	FAM160B1	10	116595962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178063	116595962	18938785	11006	18718											
TRUB1	142940	broad.mit.edu	37	chr10	116710908	116710908	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatgttgtcagggtccaaGgtaagaatactgaaatagtt	11	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116710908G>A	ENST00000298746.3	+	3	502	c.441G>A	c.(439-441)aaG>aaA	p.K147K	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	147					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAGGGTCCAAGGTAAGAATAC	0.303													False	0	False	10:116710908	0	A	116710908	G	A	116710908	5	1	88	1	0	0	0	0	0	0	1	0	16685	1014	35	2	451	2	TRUB1	10	116710908	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114946	116710908	18823839	11007	18719											
ATRNL1	26033	broad.mit.edu	37	chr10	116925332	116925332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttagttacaatttagaaaGcagtatatggaatgtaggaa	9	2	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116925332G>T	ENST00000355044.3	+	7	1145	c.1019G>T	c.(1018-1020)aGc>aTc	p.S340I	ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	340						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATTTAGAAAGCAGTATATGG	0.323													False	0	True	10:116925332	0	T	116925332	G	T	116925332	3	4	88	1	0	0	0	0	1	0	0	0	1211	971	34	3	1045	3	ATRNL1	10	116925332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214424	116925332	18609415	11008	18720											
ATRNL1	26033	broad.mit.edu	37	chr10	117024714	117024714	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaaaccaaatcttcatagaGatgtcaacagatttggacac	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117024714G>T	ENST00000355044.3	+	11	1858	c.1732G>T	c.(1732-1734)Gat>Tat	p.D578Y		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	578						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTTCATAGAGATGTCAACAG	0.313													False	0	False	10:117024714	0	T	117024714	G	T	117024714	3	4	88	1	0	0	0	0	1	0	0	0	1211	942	33	3	1774	3	ATRNL1	10	117024714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99382	117024714	18510033	11009	18721											
ATRNL1	26033	broad.mit.edu	37	chr10	117026306	117026306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgggggattttctagtgTactccttaatgatatccttg	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117026306T>C	ENST00000355044.3	+	12	1931	c.1805T>C	c.(1804-1806)gTa>gCa	p.V602A		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	602						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTTCTAGTGTACTCCTTAAT	0.333													False	0	False	10:117026306	0	C	117026306	T	C	117026306	3	2	88	1	0	0	0	0	1	0	0	0	1211	1638	57	4	1851	4	ATRNL1	10	117026306	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1592	117026306	18508441	11010	18722											
ATRNL1	26033	broad.mit.edu	37	chr10	117093850	117093850	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgtgcgaacagtgtaaAaatctcaccacaggaaagca	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117093850A>C	ENST00000355044.3	+	19	3222	c.3096A>C	c.(3094-3096)aaA>aaC	p.K1032N	ATRNL1_ENST00000423111.2_Intron|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1032	Laminin EGF-like 1.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AACAGTGTAAAAATCTCACCA	0.368													False	0	True	10:117093850	0	C	117093850	A	C	117093850	3	2	88	1	0	0	0	0	1	0	0	0	1211	11	1	4	3170	4	ATRNL1	10	117093850	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67544	117093850	18440897	11011	18723											
GFRA1	2674	broad.mit.edu	37	chr10	117856270	117856270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtaaaaaaatccgcaaggCgagatctacaataggaaaaa	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117856270C>T	ENST00000439649.3	-	6	1128	c.761G>A	c.(760-762)cGc>cAc	p.R254H	GFRA1_ENST00000355422.6_Missense_Mutation_p.R259H|GFRA1_ENST00000369236.1_Missense_Mutation_p.R254H|GFRA1_ENST00000544592.1_Missense_Mutation_p.R138H	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	259					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		ATCCGCAAGGCGAGATCTACA	0.473													False	0	False	10:117856270	0	T	117856270	C	T	117856270	3	4	88	1	0	0	0	0	1	0	0	0	6392	768	27	1	641	1	GFRA1	10	117856270	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	762420	117856270	17678477	11012	18724											
GFRA1	2674	broad.mit.edu	37	chr10	117884933	117884933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagggccttgtggcacttgCggcggttgcagacatcgttg	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117884933C>T	ENST00000439649.3	-	5	921	c.554G>A	c.(553-555)cGc>cAc	p.R185H	GFRA1_ENST00000355422.6_Missense_Mutation_p.R190H|GFRA1_ENST00000369236.1_Missense_Mutation_p.R185H|GFRA1_ENST00000544592.1_Missense_Mutation_p.R69H	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	190					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GTGGCACTTGCGGCGGTTGCA	0.607													False	0	False	10:117884933	0	T	117884933	C	T	117884933	3	4	88	1	0	0	0	0	1	0	0	0	6392	768	27	1	852	1	GFRA1	10	117884933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28663	117884933	17649814	11013	18725											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118231349	118231349	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaactgtctttcttcgtgTaggcggggcagttaggaaaa	14	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118231349T>C	ENST00000369230.3	+	10	1276	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	377	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTTCTTCGTGTAGGCGGGGCA	0.478													False	0	False	10:118231349	0	C	118231349	T	C	118231349	3	2	88	1	0	0	0	0	1	0	0	0	12221	1638	57	4	1168	4	PNLIPRP3	10	118231349	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	346416	118231349	17303398	11014	18726											
PNLIP	5406	broad.mit.edu	37	chr10	118307977	118307977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaagggagaagaaaactggCtggccaatgtgtgcaaggtg	15	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118307977C>A	ENST00000369221.2	+	4	335	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	103					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGAAAACTGGCTGGCCAATGT	0.433													False	0	True	10:118307977	0	A	118307977	C	A	118307977	3	1	88	1	0	0	0	0	1	0	0	0	12218	796	28	3	317	3	PNLIP	10	118307977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76628	118307977	17226770	11015	18727											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118380475	118380475	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgggctgtgagtggaaGctctggtgcagcatggtaag	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118380475G>A	ENST00000537242.1	+	0	11				PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GTGAGTGGAAGCTCTGGTGCA	0.597													False	0	False	10:118380475	0	A	118380475	G	A	118380475	1	1	88	0	1	0	0	0	0	0	0	0	12220	986	34	2		2	PNLIPRP2	10	118380475	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72498	118380475	17154272	11016	18728											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118385552	118385552	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcttcttagacaaggcGgaggacagctggccatcgga	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118385552G>A	ENST00000537242.1	+	0	326				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TAGACAAGGCGGAGGACAGCT	0.547													False	0	False	10:118385552	0	A	118385552	G	A	118385552	1	1	88	0	1	0	0	0	0	0	0	0	12220	1103	39	1		1	PNLIPRP2	10	118385552	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5077	118385552	17149195	11017	18729											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118394364	118394364	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttcaggaattggtggctTtgtgtcttgcaatcacctaa	9	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118394364T>G	ENST00000537242.1	+	0	856				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ATTGGTGGCTTTGTGTCTTGC	0.468													False	0	True	10:118394364	0	G	118394364	T	G	118394364	1	3	88	0	1	0	0	0	0	0	0	0	12220	1841	64	4		4	PNLIPRP2	10	118394364	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8812	118394364	17140383	11018	18730											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118404618	118404618	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccttgttaaaaacgtggtGcagctattgcggtaataaaa	9	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118404618G>A	ENST00000537242.1	+	0	1443				PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AAAACGTGGTGCAGCTATTGC	0.398													False	0	False	10:118404618	0	A	118404618	G	A	118404618	1	1	88	0	1	0	0	0	0	0	0	0	12220	1334	46	2		2	PNLIPRP2	10	118404618	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10254	118404618	17130129	11019	18731											
HSPA12A	259217	broad.mit.edu	37	chr10	118434865	118434865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcagcaggggcgcctcGgcaaagccgcccaccagaaa	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118434865G>A	ENST00000369209.3	-	12	1559	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	485							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGGGCGCCTCGGCAAAGCCGC	0.637													False	0	False	10:118434865	0	A	118434865	G	A	118434865	2	1	88	1	0	0	0	0	0	0	0	1	7453	1103	39	1		1	HSPA12A	10	118434865	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30247	118434865	17099882	11020	18732											
HSPA12A	259217	broad.mit.edu	37	chr10	118458251	118458251	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctgtatccatggtgaggtcCtggtaggaggaagaggaaca	15	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118458251C>A	ENST00000369209.3	-	5	546		c.e5-1			NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A								ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGGTGAGGTCCTGGTAGGAGG	0.507													False	0	False	10:118458251	0	A	118458251	C	A	118458251	5	1	88	1	0	0	0	0	0	0	1	0	7453	695	24	3	1618	3	HSPA12A	10	118458251	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23386	118458251	17076496	11021	18733											
KIAA1598	57698	broad.mit.edu	37	chr10	118645867	118645867	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatggatcagcagttggaGctgtctgtctctctcacgtt	10	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118645867G>A	ENST00000355371.4	-	17	2381	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Intron|KIAA1598_ENST00000260777.10_3'UTR|ENO4_ENST00000369207.2_Intron	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	628					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AGCAGTTGGAGCTGTCTGTCT	0.413													False	0	True	10:118645867	0	A	118645867	G	A	118645867	2	1	88	1	0	0	0	0	0	0	0	1	8296	962	34	2		2	KIAA1598	10	118645867	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187616	118645867	16888880	11022	18734											
KIAA1598	57698	broad.mit.edu	37	chr10	118671334	118671334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcatccactgcactttcGcagcctttcgaagattctgg	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118671334G>A	ENST00000355371.4	-	14	1823	c.1326C>T	c.(1324-1326)tgC>tgT	p.C442C	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Silent_p.C442C|KIAA1598_ENST00000260777.10_Silent_p.C442C|KIAA1598_ENST00000392901.4_Silent_p.C382C	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	442					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTGCACTTTCGCAGCCTTTCG	0.299													False	0	False	10:118671334	0	A	118671334	G	A	118671334	2	1	88	1	0	0	0	0	0	0	0	1	8296	1079	38	1		1	KIAA1598	10	118671334	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25467	118671334	16863413	11023	18735											
KIAA1598	57698	broad.mit.edu	37	chr10	118738812	118738812	+	Silent	SNP	G	G	A													gctctaaggtcttcatattcGcctattgctaaaagaaaaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738812G>A	ENST00000355371.4	-	2	563	c.66C>T	c.(64-66)ggC>ggT	p.G22G	KIAA1598_ENST00000392903.2_Silent_p.G22G|KIAA1598_ENST00000260777.10_Silent_p.G22G|KIAA1598_ENST00000392901.4_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	22					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTTCATATTCGCCTATTGCTA	0.408													False	0	False	10:118738812	0	A	118738812	G	A	118738812	2	1	88	1	0	0	0	0	0	0	0	1	8296	1074	38	1		1	KIAA1598	10	118738812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67478	118738812	16795935	11024	18736	213	2									
KIAA1598	57698	broad.mit.edu	37	chr10	118738814	118738814	+	Translation_Start_Site	SNP	C	C	A													tctaaggtcttcatattcgcCtattgctaaaagaaaaaagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738814C>A	ENST00000392901.4	-	0	351				KIAA1598_ENST00000392903.2_Missense_Mutation_p.G22C|KIAA1598_ENST00000260777.10_Missense_Mutation_p.G22C|KIAA1598_ENST00000355371.4_Missense_Mutation_p.G22C	NM_001258300.1	NP_001245229.1	A0MZ66	SHOT1_HUMAN	KIAA1598						axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TCATATTCGCCTATTGCTAAA	0.398													False	0	False	10:118738814	0	A	118738814	C	A	118738814	1	1	88	1	0	0	0	0	0	0	0	0	8296	681	24	3		3	KIAA1598	10	118738814	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2	118738814	16795933	11025	18737	213	2									
VAX1	11023	broad.mit.edu	37	chr10	118896084	118896084	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctccagccgatagagctgctCcgcggtgaaggacgtgcgcg	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118896084C>A	ENST00000277905.2	-	2	572	c.328G>T	c.(328-330)Gag>Tag	p.E110*	VAX1_ENST00000369206.5_Nonsense_Mutation_p.E110*	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	110						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TAGAGCTGCTCCGCGGTGAAG	0.652													False	0	False	10:118896084	0	A	118896084	C	A	118896084	4	1	88	1	0	0	0	0	0	1	0	0	17218	864	30	3	824	3	VAX1	10	118896084	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157270	118896084	16638663	11026	18738											
KCNK18	338567	broad.mit.edu	37	chr10	118960693	118960693	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggaagacagaaaacaggatCtccaggggcatctgcagaag	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118960693C>T	ENST00000334549.1	+	2	247	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	83						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AAAACAGGATCTCCAGGGGCA	0.517													False	0	False	10:118960693	0	T	118960693	C	T	118960693	3	4	88	1	0	0	0	0	1	0	0	0	8115	913	32	2	253	2	KCNK18	10	118960693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64609	118960693	16574054	11027	18739											
SLC18A2	6571	broad.mit.edu	37	chr10	119003516	119003516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttatctgtacagcattaaGcatgagaagaatgctacaga	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119003516G>A	ENST00000298472.5	+	3	299	c.156G>A	c.(154-156)aaG>aaA	p.K52K	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	52					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ACAGCATTAAGCATGAGAAGA	0.488													False	0	False	10:119003516	0	A	119003516	G	A	119003516	2	1	88	1	0	0	0	0	0	0	0	1	14507	962	34	2		2	SLC18A2	10	119003516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42823	119003516	16531231	11028	18740											
SLC18A2	6571	broad.mit.edu	37	chr10	119003809	119003809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcaccaaccctttcatagGactactgaccaacaggtagg	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119003809G>A	ENST00000298472.5	+	3	592	c.449G>A	c.(448-450)gGa>gAa	p.G150E	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	150					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTTTCATAGGACTACTGACC	0.448													False	0	False	10:119003809	0	A	119003809	G	A	119003809	3	1	88	1	0	0	0	0	1	0	0	0	14507	1174	41	2	455	2	SLC18A2	10	119003809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293	119003809	16530938	11029	18741											
PDZD8	118987	broad.mit.edu	37	chr10	119134343	119134343	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggcgcccggccgtcttggtCtgcagcagctcctcgaactc	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119134343C>A	ENST00000334464.5	-	1	635	c.396G>T	c.(394-396)caG>caT	p.Q132H		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	132					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CCGTCTTGGTCTGCAGCAGCT	0.662													False	0	False	10:119134343	0	A	119134343	C	A	119134343	3	1	88	1	0	0	0	0	1	0	0	0	11773	912	32	3	3088	3	PDZD8	10	119134343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130534	119134343	16400404	11030	18742											
EMX2	2018	broad.mit.edu	37	chr10	119302963	119302963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgccgccgccggtagggGcgtctactccaacccggact	13	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119302963G>A	ENST00000553456.3	+	1	1009	c.185G>A	c.(184-186)gGc>gAc	p.G62D	EMX2_ENST00000442245.4_Missense_Mutation_p.G62D|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	62						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		gccggTAGGGGCGTCTACTCC	0.721													False	0	True	10:119302963	0	A	119302963	G	A	119302963	3	1	88	1	0	0	0	0	1	0	0	0	5140	1203	42	2	187	2	EMX2	10	119302963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168620	119302963	16231784	11031	18743											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119799769	119799769	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgcgctgacgagagtcGctgaggacccaagagaaaag	14	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119799769G>A	ENST00000355624.3	-	2	1100	c.661C>T	c.(661-663)Cga>Tga	p.R221*	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.R221*	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	221					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GACGAGAGTCGCTGAGGACCC	0.443													False	0	False	10:119799769	0	A	119799769	G	A	119799769	4	1	88	1	0	0	0	0	0	1	0	0	12973	1095	38	1	893	1	RAB11FIP2	10	119799769	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	496806	119799769	15734978	11032	18744											
PRLHR	2834	broad.mit.edu	37	chr10	120353797	120353797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcatggcgagccagtgGcagagcagctgcaccagccc	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:120353797G>A	ENST00000239032.2	-	2	1098	c.960C>T	c.(958-960)tgC>tgT	p.C320C	PRLHR_ENST00000369169.1_Silent_p.C320C	NM_004248.2	NP_004239	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	320					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CGAGCCAGTGGCAGAGCAGCT	0.647													False	0	False	10:120353797	0	A	120353797	G	A	120353797	2	1	88	1	0	0	0	0	0	0	0	1	12606	1195	42	2		2	PRLHR	10	120353797	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	554028	120353797	15180950	11033	18745											
EIF3A	8661	broad.mit.edu	37	chr10	120830529	120830529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgaatctgcgataagtGcattctcaaattgtcacaca	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:120830529G>A	ENST00000369144.3	-	5	737	c.610C>T	c.(610-612)Cac>Tac	p.H204Y	EIF3A_ENST00000541549.1_Missense_Mutation_p.H170Y	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	204					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TGCGATAAGTGCATTCTCAAA	0.398													False	0	False	10:120830529	0	A	120830529	G	A	120830529	3	1	88	1	0	0	0	0	1	0	0	0	5042	1319	46	2	3610	2	EIF3A	10	120830529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	476732	120830529	14704218	11034	18746											
RGS10	6001	broad.mit.edu	37	chr10	121286924	121286924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctggaactgccatcgCtgtcgtggatgtctgcaaag	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121286924C>A	ENST00000392865.1	-	2	82	c.20G>T	c.(19-21)aGc>aTc	p.S7I	RGS10_ENST00000369103.2_Missense_Mutation_p.S21I|RGS10_ENST00000369101.3_Missense_Mutation_p.S13I	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	13					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		ACTGCCATCGCTGTCGTGGAT	0.527													False	0	False	10:121286924	0	A	121286924	C	A	121286924	3	1	88	1	0	0	0	0	1	0	0	0	13372	797	28	3	499	3	RGS10	10	121286924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	456395	121286924	14247823	11035	18747											
TIAL1	7073	broad.mit.edu	37	chr10	121342012	121342012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatagcagctaatgcagCagctgcatctctgtgttcat	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121342012C>T	ENST00000369093.2	-	3	267	c.238G>A	c.(238-240)Gct>Act	p.A80T	TIAL1_ENST00000369092.4_5'UTR|TIAL1_ENST00000436547.2_Missense_Mutation_p.A63T	NM_001033925.1	NP_001029097.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	63	RRM 1.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GCTAATGCAGCAGCTGCATCT	0.378													False	0	False	10:121342012	0	T	121342012	C	T	121342012	3	4	88	1	0	0	0	0	1	0	0	0	15971	710	25	2	980	2	TIAL1	10	121342012	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55088	121342012	14192735	11036	18748											
BAG3	9531	broad.mit.edu	37	chr10	121429472	121429472	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaggctacattcccattcCtgtgctccatgaaggcgctg	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121429472C>A	ENST00000369085.3	+	2	596	c.290C>A	c.(289-291)cCt>cAt	p.P97H		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	97					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		ATTCCCATTCCTGTGCTCCAT	0.637													False	0	False	10:121429472	0	A	121429472	C	A	121429472	3	1	88	1	0	0	0	0	1	0	0	0	1292	681	24	3	296	3	BAG3	10	121429472	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87460	121429472	14105275	11037	18749											
BAG3	9531	broad.mit.edu	37	chr10	121429651	121429651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtggacaggtggcagcgGcggcggcagcccagccccca	17	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121429651G>A	ENST00000369085.3	+	2	775	c.469G>A	c.(469-471)Gcg>Acg	p.A157T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	157					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGTGGCAGCGGCGGCGGCAGC	0.677													False	0	True	10:121429651	0	A	121429651	G	A	121429651	3	1	88	1	0	0	0	0	1	0	0	0	1292	1203	42	2	475	2	BAG3	10	121429651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179	121429651	14105096	11038	18750											
INPP5F	22876	broad.mit.edu	37	chr10	121551041	121551041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatttagctctgtaagaagCatcattttggtattaacaaa	6	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121551041C>T	ENST00000361976.2	+	4	494	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	INPP5F_ENST00000369081.1_Missense_Mutation_p.H14Y|INPP5F_ENST00000369083.3_Missense_Mutation_p.H110Y	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	110							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGTAAGAAGCATCATTTTGG	0.358													False	0	False	10:121551041	0	T	121551041	C	T	121551041	3	4	88	1	0	0	0	0	1	0	0	0	7808	710	25	2	342	2	INPP5F	10	121551041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121390	121551041	13983706	11039	18751											
INPP5F	22876	broad.mit.edu	37	chr10	121551380	121551380	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtagattaatttcttataGgttaaggaaagtaaagagaa	9	1	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121551380G>T	ENST00000361976.2	+	5	610		c.e5-1		INPP5F_ENST00000369081.1_Splice_Site|INPP5F_ENST00000369083.3_Splice_Site	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F								phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATTTCTTATAGGTTAAGGAAA	0.343													False	0	False	10:121551380	0	T	121551380	G	T	121551380	5	4	88	1	0	0	0	0	0	0	1	0	7808	1014	35	3	462	3	INPP5F	10	121551380	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339	121551380	13983367	11040	18752											
SEC23IP	11196	broad.mit.edu	37	chr10	121663749	121663749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagggggacacagatagtcGatttattccctatactgagg	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121663749G>A	ENST00000369075.3	+	4	1133	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	SEC23IP_ENST00000543134.1_Missense_Mutation_p.R143Q	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	354	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACAGATAGTCGATTTATTCCC	0.423													False	0	False	10:121663749	0	A	121663749	G	A	121663749	3	1	88	1	0	0	0	0	1	0	0	0	14074	1058	37	1	1075	1	SEC23IP	10	121663749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112369	121663749	13870998	11041	18753											
SEC23IP	11196	broad.mit.edu	37	chr10	121692654	121692654	+	Missense_Mutation	SNP	G	G	A													gttttaatgaataccttttcGctcttcagagtcacttatgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121692654G>A	ENST00000369075.3	+	17	2968	c.2896G>A	c.(2896-2898)Gct>Act	p.A966T	SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.A755T	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	966	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ATACCTTTTCGCTCTTCAGAG	0.388													False	0	False	10:121692654	0	A	121692654	G	A	121692654	3	1	88	1	0	0	0	0	1	0	0	0	14074	1087	38	1	2962	1	SEC23IP	10	121692654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28905	121692654	13842093	11042	18754	214	2									
SEC23IP	11196	broad.mit.edu	37	chr10	121692664	121692664	+	Missense_Mutation	SNP	G	G	A													ataccttttcgctcttcagaGtcacttatgctattggtaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121692664G>A	ENST00000369075.3	+	17	2978	c.2906G>A	c.(2905-2907)aGt>aAt	p.S969N	SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.S758N	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	969	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GCTCTTCAGAGTCACTTATGC	0.373													False	0	False	10:121692664	0	A	121692664	G	A	121692664	3	1	88	1	0	0	0	0	1	0	0	0	14074	1029	36	2	2972	2	SEC23IP	10	121692664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	121692664	13842083	11043	18755	214	2									
WDR11	55717	broad.mit.edu	37	chr10	122619695	122619695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acccgccaaattacattgtgCtctggaatgccgacactggc	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122619695C>A	ENST00000263461.6	+	4	673	c.427C>A	c.(427-429)Ctc>Atc	p.L143I		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	143						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTACATTGTGCTCTGGAATGC	0.433													False	0	False	10:122619695	0	A	122619695	C	A	122619695	3	1	88	1	0	0	0	0	1	0	0	0	17357	797	28	3	441	3	WDR11	10	122619695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	927031	122619695	12915052	11044	18756											
WDR11	55717	broad.mit.edu	37	chr10	122626665	122626665	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aataaactcccagacctttcCttagataacatgattggtaa	5	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122626665C>A	ENST00000263461.6	+	9	1524	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	426						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAGACCTTTCCTTAGATAACA	0.363													False	0	False	10:122626665	0	A	122626665	C	A	122626665	2	1	88	1	0	0	0	0	0	0	0	1	17357	668	24	3		3	WDR11	10	122626665	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6970	122626665	12908082	11045	18757											
WDR11	55717	broad.mit.edu	37	chr10	122630757	122630757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacctcaagttcctgctgaCgggactgctttcaggactgc	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122630757C>T	ENST00000263461.6	+	10	1616	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	457						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTCCTGCTGACGGGACTGCTT	0.468													False	0	True	10:122630757	0	T	122630757	C	T	122630757	3	4	88	1	0	0	0	0	1	0	0	0	17357	536	19	1	1408	1	WDR11	10	122630757	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4092	122630757	12903990	11046	18758											
WDR11	55717	broad.mit.edu	37	chr10	122650367	122650367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagatgtctatgaagtctgCgtgctttagaatggatgaac	12	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122650367C>T	ENST00000263461.6	+	19	2729	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	WDR11_ENST00000604509.1_Intron	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	828						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGAAGTCTGCGTGCTTTAGA	0.433													False	0	False	10:122650367	0	T	122650367	C	T	122650367	3	4	88	1	0	0	0	0	1	0	0	0	17357	768	27	1	2557	1	WDR11	10	122650367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19610	122650367	12884380	11047	18759											
FGFR2	2263	broad.mit.edu	37	chr10	123256162	123256162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcataggagtactccatccCgggtggcctccgggctcgga	14	13	1	0	rs138712692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123256162C>T	ENST00000358487.5	-	13	2019	c.1747G>A	c.(1747-1749)Ggg>Agg	p.G583R	FGFR2_ENST00000369061.4_Missense_Mutation_p.G471R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G466R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G495R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G584R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G355R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G494R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G581R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G581R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G584R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G467R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G469R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	583	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TACTCCATCCCGGGTGGCCTC	0.537		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				False	0	True	10:123256162	0	T	123256162	C	T	123256162	3	4	88	1	0	0	0	0	1	0	0	0	5906	652	23	1	846	1	FGFR2	10	123256162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605795	123256162	12278585	11048	18760											
ATE1	11101	broad.mit.edu	37	chr10	123600741	123600741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtactgctggtgaaaggagCcatagccacaatctggccca	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123600741C>T	ENST00000369043.3	-	9	1099	c.1013G>A	c.(1012-1014)gGc>gAc	p.G338D	ATE1_ENST00000535655.1_Missense_Mutation_p.G39D|ATE1_ENST00000543447.1_Missense_Mutation_p.G223D|ATE1_ENST00000224652.6_Missense_Mutation_p.G338D|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000540606.1_Missense_Mutation_p.G331D|ATE1_ENST00000369040.3_Missense_Mutation_p.G242D	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	338					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GTGAAAGGAGCCATAGCCACA	0.408													False	0	False	10:123600741	0	T	123600741	C	T	123600741	3	4	88	1	0	0	0	0	1	0	0	0	1082	739	26	2	559	2	ATE1	10	123600741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	344579	123600741	11934006	11049	18761											
ATE1	11101	broad.mit.edu	37	chr10	123661906	123661906	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaaagtcctccaaagtacCtctaacttgtgtgatgcatt	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123661906C>A	ENST00000369043.3	-	6	899	c.813G>T	c.(811-813)gaG>gaT	p.E271D	ATE1_ENST00000535655.1_Intron|ATE1_ENST00000543447.1_Splice_Site_p.E156D|ATE1_ENST00000224652.6_Splice_Site_p.E271D|ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000540606.1_Splice_Site_p.E264D|ATE1_ENST00000369040.3_Splice_Site_p.E175D	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	271					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TCCAAAGTACCTCTAACTTGT	0.323													False	0	False	10:123661906	0	A	123661906	C	A	123661906	5	1	88	1	0	0	0	0	0	0	1	0	1082	695	24	3	904	3	ATE1	10	123661906	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61165	123661906	11872841	11050	18762											
NSMCE4A	54780	broad.mit.edu	37	chr10	123724800	123724800	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaacattttaaaacaaaCctgggcaggcattgccctct	7	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123724800C>T	ENST00000538652.1	-	5	914		c.e5+1		NSMCE4A_ENST00000489266.1_Splice_Site|NSMCE4A_ENST00000369023.3_Splice_Site|NSMCE4A_ENST00000369017.5_Splice_Site			Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)											breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TTAAAACAAACCTGGGCAGGC	0.403													False	0	True	10:123724800	0	T	123724800	C	T	123724800	5	4	88	1	0	0	0	0	0	0	1	0	10745	521	18	2	427	2	NSMCE4A	10	123724800	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62894	123724800	11809947	11051	18763											
TACC2	10579	broad.mit.edu	37	chr10	123842275	123842275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaggacccacagggagCcagggggccagaaggttctt	16	9	1	1	rs143057039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842275C>T	ENST00000369005.1	+	4	600	c.260C>T	c.(259-261)gCc>gTc	p.A87V	TACC2_ENST00000334433.3_Missense_Mutation_p.A87V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A87V|TACC2_ENST00000515273.1_Missense_Mutation_p.A87V|TACC2_ENST00000515603.1_Missense_Mutation_p.A87V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	87						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCACAGGGAGCCAGGGGGCCA	0.642													False	0	False	10:123842275	0	T	123842275	C	T	123842275	3	4	88	1	0	0	0	0	1	0	0	0	15584	739	26	2	270	2	TACC2	10	123842275	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117475	123842275	11692472	11052	18764											
TACC2	10579	broad.mit.edu	37	chr10	123842452	123842452	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagggaacctgccccaaatgCcccaggagacatcgcggcgg	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842452C>A	ENST00000369005.1	+	4	777	c.437C>A	c.(436-438)gCc>gAc	p.A146D	TACC2_ENST00000334433.3_Missense_Mutation_p.A146D|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A146D|TACC2_ENST00000515273.1_Missense_Mutation_p.A146D|TACC2_ENST00000515603.1_Missense_Mutation_p.A146D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	146						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCCCAAATGCCCCAGGAGAC	0.607													False	0	True	10:123842452	0	A	123842452	C	A	123842452	3	1	88	1	0	0	0	0	1	0	0	0	15584	739	26	3	447	3	TACC2	10	123842452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177	123842452	11692295	11053	18765											
TACC2	10579	broad.mit.edu	37	chr10	123842597	123842597	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctccttctccagtggcatCgaccagtcacctggaatgtc	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842597C>T	ENST00000369005.1	+	4	922	c.582C>T	c.(580-582)atC>atT	p.I194I	TACC2_ENST00000334433.3_Silent_p.I194I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.I194I|TACC2_ENST00000515273.1_Silent_p.I194I|TACC2_ENST00000515603.1_Silent_p.I194I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	194						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGTGGCATCGACCAGTCAC	0.567													False	0	False	10:123842597	0	T	123842597	C	T	123842597	2	4	88	1	0	0	0	0	0	0	0	1	15584	874	31	1		1	TACC2	10	123842597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	123842597	11692150	11054	18766											
TACC2	10579	broad.mit.edu	37	chr10	123842859	123842859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgatcccacaagatccaGccccaagagcctcagacaga	7	18	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842859G>A	ENST00000369005.1	+	4	1184	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	TACC2_ENST00000334433.3_Missense_Mutation_p.A282T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A282T|TACC2_ENST00000515273.1_Missense_Mutation_p.A282T|TACC2_ENST00000515603.1_Missense_Mutation_p.A282T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	282						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAAGATCCAGCCCCAAGAGC	0.602													False	0	True	10:123842859	0	A	123842859	G	A	123842859	3	1	88	1	0	0	0	0	1	0	0	0	15584	971	34	2	854	2	TACC2	10	123842859	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	262	123842859	11691888	11055	18767											
TACC2	10579	broad.mit.edu	37	chr10	123843830	123843830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggctttcagcagcaaGcgtgatccagaagtaggcaa	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123843830G>A	ENST00000369005.1	+	4	2155	c.1815G>A	c.(1813-1815)aaG>aaA	p.K605K	TACC2_ENST00000334433.3_Silent_p.K605K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.K605K|TACC2_ENST00000515273.1_Silent_p.K605K|TACC2_ENST00000515603.1_Silent_p.K605K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	605						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCAGCAGCAAGCGTGATCCAG	0.567													False	0	False	10:123843830	0	A	123843830	G	A	123843830	2	1	88	1	0	0	0	0	0	0	0	1	15584	962	34	2		2	TACC2	10	123843830	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	971	123843830	11690917	11056	18768											
TACC2	10579	broad.mit.edu	37	chr10	123845303	123845303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaaccagtgccggccccGcagcagaaaatggagtgctg	13	13	0	1	rs41288006	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123845303G>A	ENST00000369005.1	+	4	3628	c.3288G>A	c.(3286-3288)ccG>ccA	p.P1096P	TACC2_ENST00000334433.3_Silent_p.P1096P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.P1096P|TACC2_ENST00000515273.1_Silent_p.P1096P|TACC2_ENST00000515603.1_Silent_p.P1096P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1096						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCCGGCCCCGCAGCAGAAAA	0.632													False	0	True	10:123845303	0	A	123845303	G	A	123845303	2	1	88	1	0	0	0	0	0	0	0	1	15584	1074	38	1		1	TACC2	10	123845303	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1473	123845303	11689444	11057	18769											
TACC2	10579	broad.mit.edu	37	chr10	123989890	123989890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttagagtttgccatcatgCggatagaagccctgaagctg	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123989890C>T	ENST00000369005.1	+	16	8402	c.8062C>T	c.(8062-8064)Cgg>Tgg	p.R2688W	TACC2_ENST00000334433.3_Missense_Mutation_p.R2688W|TACC2_ENST00000369004.3_Intron|TACC2_ENST00000513429.1_Missense_Mutation_p.R834W|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000358010.1_Missense_Mutation_p.R834W|TACC2_ENST00000360561.3_Intron|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.R778W|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000260733.3_Missense_Mutation_p.R766W	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2688						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCCATCATGCGGATAGAAGC	0.567													False	0	False	10:123989890	0	T	123989890	C	T	123989890	3	4	88	1	0	0	0	0	1	0	0	0	15584	759	27	1	8192	1	TACC2	10	123989890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144587	123989890	11544857	11058	18770											
BTBD16	118663	broad.mit.edu	37	chr10	124034607	124034607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actttcattcatgataatgtCgaacacggtgagtagatcag	9	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124034607C>T	ENST00000368994.2	+	2	262	c.11C>T	c.(10-12)tCg>tTg	p.S4L	BTBD16_ENST00000260723.4_Missense_Mutation_p.S4L			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	4										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ATGATAATGTCGAACACGGTG	0.393													False	0	False	10:124034607	0	T	124034607	C	T	124034607	3	4	88	1	0	0	0	0	1	0	0	0	1548	893	31	1	13	1	BTBD16	10	124034607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44717	124034607	11500140	11059	18771											
PLEKHA1	59338	broad.mit.edu	37	chr10	124152810	124152810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcgaaggtacttcataCtggataccagagaagatagt	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124152810C>A	ENST00000368988.1	+	2	217	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	PLEKHA1_ENST00000368989.2_Missense_Mutation_p.L32M|PLEKHA1_ENST00000368990.3_Missense_Mutation_p.L32M|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.L32M|PLEKHA1_ENST00000494222.1_3'UTR			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	32	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTACTTCATACTGGATACCAG	0.363													False	0	False	10:124152810	0	A	124152810	C	A	124152810	3	1	88	1	0	0	0	0	1	0	0	0	12124	564	20	3	96	3	PLEKHA1	10	124152810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118203	124152810	11381937	11060	18772											
HTRA1	5654	broad.mit.edu	37	chr10	124268275	124268275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcacggagtcccatgaccGacaggccaaaggtaggcaag	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124268275G>A	ENST00000368984.3	+	6	1237	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	370	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TCCCATGACCGACAGGCCAAA	0.527													False	0	False	10:124268275	0	A	124268275	G	A	124268275	3	1	88	1	0	0	0	0	1	0	0	0	7503	1058	37	1	1131	1	HTRA1	10	124268275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115465	124268275	11266472	11061	18773											
DMBT1	1755	broad.mit.edu	37	chr10	124333230	124333230	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcctttctccaccctgcaGgttctctgattccctcagag	6	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124333230G>T	ENST00000368909.3	+	6	341		c.e6-1		DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000338354.3_Splice_Site	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1						epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCACCCTGCAGGTTCTCTGAT	0.567													False	0	False	10:124333230	0	T	124333230	G	T	124333230	5	4	88	1	0	0	0	0	0	0	1	0	4607	1014	35	3	257	3	DMBT1	10	124333230	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64955	124333230	11201517	11062	18774											
DMBT1	1755	broad.mit.edu	37	chr10	124336170	124336170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgaatcctacctgtggaGctgcccccacaatggctggc	10	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124336170G>A	ENST00000368909.3	+	7	645	c.539G>A	c.(538-540)aGc>aAc	p.S180N	DMBT1_ENST00000330163.4_Missense_Mutation_p.S180N|DMBT1_ENST00000359586.6_Missense_Mutation_p.S180N|DMBT1_ENST00000344338.3_Missense_Mutation_p.S180N|DMBT1_ENST00000368955.3_Missense_Mutation_p.S180N|DMBT1_ENST00000368956.2_Missense_Mutation_p.S180N|DMBT1_ENST00000338354.3_Missense_Mutation_p.S180N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	180	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TACCTGTGGAGCTGCCCCCAC	0.577													False	0	False	10:124336170	0	A	124336170	G	A	124336170	3	1	88	1	0	0	0	0	1	0	0	0	4607	971	34	2	565	2	DMBT1	10	124336170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2940	124336170	11198577	11063	18775											
DMBT1	1755	broad.mit.edu	37	chr10	124339216	124339216	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actactgggacaccaatgatGccaatgtggtctgcaggcag	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124339216G>T	ENST00000368909.3	+	10	908	c.802G>T	c.(802-804)Gcc>Tcc	p.A268S	DMBT1_ENST00000330163.4_Missense_Mutation_p.A268S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.A268S|DMBT1_ENST00000368955.3_Missense_Mutation_p.A268S|DMBT1_ENST00000368956.2_Missense_Mutation_p.A268S|DMBT1_ENST00000338354.3_Missense_Mutation_p.A268S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	268	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCAATGATGCCAATGTGGT	0.607													False	0	False	10:124339216	0	T	124339216	G	T	124339216	3	4	88	1	0	0	0	0	1	0	0	0	4607	1319	46	3	840	3	DMBT1	10	124339216	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3046	124339216	11195531	11064	18776											
DMBT1	1755	broad.mit.edu	37	chr10	124395524	124395524	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggcttgaaggtggctgcaActatgattatattgaagttt	11	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124395524A>C	ENST00000368909.3	+	50	6285	c.6179A>C	c.(6178-6180)aAc>aCc	p.N2060T	DMBT1_ENST00000330163.4_Missense_Mutation_p.N1432T|DMBT1_ENST00000359586.6_Missense_Mutation_p.N780T|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2050T|DMBT1_ENST00000368956.2_Missense_Mutation_p.N1432T|DMBT1_ENST00000338354.3_Missense_Mutation_p.N2060T	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2060	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTGGCTGCAACTATGATTAT	0.527													False	0	False	10:124395524	0	C	124395524	A	C	124395524	3	2	88	1	0	0	0	0	1	0	0	0	4607	43	2	4	6377	4	DMBT1	10	124395524	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56308	124395524	11139223	11065	18777											
C10orf120	399814	broad.mit.edu	37	chr10	124457595	124457595	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttatcttggttggcatcaTcacaattatgggtgtcatag	9	7	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124457595T>A	ENST00000329446.4	-	3	693	c.662A>T	c.(661-663)gAt>gTt	p.D221V		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	221										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTTGGCATCATCACAATTATG	0.403													False	0	False	10:124457595	0	A	124457595	T	A	124457595	3	1	88	1	0	0	0	0	1	0	0	0	1598	1435	50	5	349	5	C10orf120	10	124457595	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62071	124457595	11077152	11066	18778											
C10orf120	399814	broad.mit.edu	37	chr10	124457633	124457633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagttgtcttcctttcgtctGgccttattttttgccattgg	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124457633G>A	ENST00000329446.4	-	3	655	c.624C>T	c.(622-624)gcC>gcT	p.A208A		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	208										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CCTTTCGTCTGGCCTTATTTT	0.448													False	0	False	10:124457633	0	A	124457633	G	A	124457633	2	1	88	1	0	0	0	0	0	0	0	1	1598	1335	47	2		2	C10orf120	10	124457633	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	124457633	11077114	11067	18779											
CUZD1	50624	broad.mit.edu	37	chr10	124591924	124591924	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagatgcacactgttgaaaGgctggtttggagtttcttcc	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124591924G>T	ENST00000368904.1	-	11	2643	c.1694C>A	c.(1693-1695)cCt>cAt	p.P565H	CUZD1_ENST00000545804.1_Missense_Mutation_p.P565H|CUZD1_ENST00000392790.1_Missense_Mutation_p.P565H			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	565					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ACTGTTGAAAGGCTGGTTTGG	0.388													False	0	True	10:124591924	0	T	124591924	G	T	124591924	3	4	88	1	0	0	0	0	1	0	0	0	4091	1000	35	3	133	3	CUZD1	10	124591924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134291	124591924	10942823	11068	18780											
CUZD1	50624	broad.mit.edu	37	chr10	124594412	124594412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaattggattcaaaaagagCcatgctggtgttatatttgc	10	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124594412C>T	ENST00000368904.1	-	9	2141	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	CUZD1_ENST00000545804.1_Missense_Mutation_p.A398T|CUZD1_ENST00000392790.1_Missense_Mutation_p.A398T			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	398	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TCAAAAAGAGCCATGCTGGTG	0.343													False	0	False	10:124594412	0	T	124594412	C	T	124594412	3	4	88	1	0	0	0	0	1	0	0	0	4091	739	26	2	643	2	CUZD1	10	124594412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2488	124594412	10940335	11069	18781											
FAM24A	118670	broad.mit.edu	37	chr10	124671154	124671154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactttctccttaggcatgGcaaagatgtttgatctcagg	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124671154G>A	ENST00000368894.1	+	2	125	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	2						extracellular region		p.A2T(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CTTAGGCATGGCAAAGATGTT	0.502													False	0	False	10:124671154	0	A	124671154	G	A	124671154	3	1	88	1	0	0	0	0	1	0	0	0	5584	1203	42	2	6	2	FAM24A	10	124671154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76742	124671154	10863593	11070	18782											
C10orf88	80007	broad.mit.edu	37	chr10	124691977	124691977	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagtctttctccagagTcataatgtcttagaggtatc	8	7	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124691977T>C	ENST00000481909.1	-	6	1528	c.1304A>G	c.(1303-1305)gAc>gGc	p.D435G	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	435										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTCTCCAGAGTCATAATGTCT	0.378													False	0	False	10:124691977	0	C	124691977	T	C	124691977	3	2	88	1	0	0	0	0	1	0	0	0	1630	1667	58	4	37	4	C10orf88	10	124691977	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20823	124691977	10842770	11071	18783											
C10orf88	80007	broad.mit.edu	37	chr10	124692104	124692104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatcaatgtaatccataaGtttcttttccatcagttcca	4	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124692104G>A	ENST00000481909.1	-	6	1401	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	393										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TAATCCATAAGTTTCTTTTCC	0.343													False	0	True	10:124692104	0	A	124692104	G	A	124692104	3	1	88	1	0	0	0	0	1	0	0	0	1630	1029	36	2	164	2	C10orf88	10	124692104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127	124692104	10842643	11072	18784											
PSTK	118672	broad.mit.edu	37	chr10	124742796	124742796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgttttcagattcgttgGgcttttgccagctcttttta	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124742796G>A	ENST00000405485.1	+	3	583	c.517G>A	c.(517-519)Ggc>Agc	p.G173S	PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000368887.3_Missense_Mutation_p.G173S			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	173							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		AGATTCGTTGGGCTTTTGCCA	0.383													False	0	True	10:124742796	0	A	124742796	G	A	124742796	3	1	88	1	0	0	0	0	1	0	0	0	12796	1232	43	2	527	2	PSTK	10	124742796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50692	124742796	10791951	11073	18785											
ACADSB	36	broad.mit.edu	37	chr10	124800860	124800860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgctgagcacgcagggCtctttctggtgatggcaaat	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124800860C>T	ENST00000358776.4	+	5	660	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F	ACADSB_ENST00000368869.4_Missense_Mutation_p.L114F|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	216					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GCACGCAGGGCTCTTTCTGGT	0.398													False	0	True	10:124800860	0	T	124800860	C	T	124800860	3	4	88	1	0	0	0	0	1	0	0	0	115	797	28	2	664	2	ACADSB	10	124800860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58064	124800860	10733887	11074	18786											
ACADSB	36	broad.mit.edu	37	chr10	124800885	124800885	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgatggcaaatgtagAccctaccattgtaagtttga	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124800885A>G	ENST00000358776.4	+	5	685	c.671A>G	c.(670-672)gAc>gGc	p.D224G	ACADSB_ENST00000368869.4_Missense_Mutation_p.D122G|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	224					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GCAAATGTAGACCCTACCATT	0.398													False	0	True	10:124800885	0	G	124800885	A	G	124800885	3	3	88	1	0	0	0	0	1	0	0	0	115	275	10	4	689	4	ACADSB	10	124800885	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25	124800885	10733862	11075	18787											
HMX2	3167	broad.mit.edu	37	chr10	124909094	124909094	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctcctcaggtacccccAagggcagcggaggctcgggc	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124909094A>G	ENST00000339992.3	+	2	534	c.277A>G	c.(277-279)Aag>Gag	p.K93E		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	93					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGGTACCCCCAAGGGCAGCGG	0.642													False	0	True	10:124909094	0	G	124909094	A	G	124909094	3	3	88	1	0	0	0	0	1	0	0	0	7294	131	5	4	283	4	HMX2	10	124909094	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108209	124909094	10625653	11076	18788											
BUB3	9184	broad.mit.edu	37	chr10	124919965	124919965	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaccggctgattgtgggaAcagcaggccgcagagtgttg	17	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124919965A>C	ENST00000368865.4	+	5	669	c.460A>C	c.(460-462)Aca>Cca	p.T154P	BUB3_ENST00000368859.2_Intron|BUB3_ENST00000538238.1_Missense_Mutation_p.T74P|BUB3_ENST00000368858.5_Missense_Mutation_p.T154P	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	154					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GATTGTGGGAACAGCAGGCCG	0.488													False	0	False	10:124919965	0	C	124919965	A	C	124919965	3	2	88	1	0	0	0	0	1	0	0	0	1579	43	2	4	474	4	BUB3	10	124919965	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10871	124919965	10614782	11077	18789											
GPR26	2849	broad.mit.edu	37	chr10	125426094	125426094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaacctgctgtgcaccgtGgtcaacatgccgctcacgct	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125426094G>A	ENST00000284674.1	+	1	224	c.171G>A	c.(169-171)gtG>gtA	p.V57V		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	57					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TGTGCACCGTGGTCAACATGC	0.721													False	0	False	10:125426094	0	A	125426094	G	A	125426094	2	1	88	1	0	0	0	0	0	0	0	1	6730	1335	47	2		2	GPR26	10	125426094	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	506129	125426094	10108653	11078	18790											
GPR26	2849	broad.mit.edu	37	chr10	125447554	125447554	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgtgtactccttactgCgacaccagtaccgcaaaagc	7	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125447554C>T	ENST00000284674.1	+	3	945	c.892C>T	c.(892-894)Cga>Tga	p.R298*		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	298					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R298*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CTCCTTACTGCGACACCAGTA	0.597													False	0	False	10:125447554	0	T	125447554	C	T	125447554	4	4	88	1	0	0	0	0	0	1	0	0	6730	760	27	1	902	1	GPR26	10	125447554	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21460	125447554	10087193	11079	18791											
CHST15	51363	broad.mit.edu	37	chr10	125804220	125804220	+	Silent	SNP	C	C	T													tgccctatgatgtagaagtgCggcaggcagcgcaggcggaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125804220C>T	ENST00000346248.5	-	3	1404	c.762G>A	c.(760-762)ccG>ccA	p.P254P	CHST15_ENST00000421115.1_Silent_p.P254P|CHST15_ENST00000435907.1_Silent_p.P254P	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	254					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGTAGAAGTGCGGCAGGCAGC	0.657													False	0	True	10:125804220	0	T	125804220	C	T	125804220	2	4	88	1	0	0	0	0	0	0	0	1	3426	755	27	1		1	CHST15	10	125804220	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356666	125804220	9730527	11080	18792	215	2									
CHST15	51363	broad.mit.edu	37	chr10	125804230	125804230	+	Missense_Mutation	SNP	C	C	T													tgtagaagtgcggcaggcagCgcaggcggaagtgcttcccg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125804230C>T	ENST00000346248.5	-	3	1394	c.752G>A	c.(751-753)cGc>cAc	p.R251H	CHST15_ENST00000421115.1_Missense_Mutation_p.R251H|CHST15_ENST00000435907.1_Missense_Mutation_p.R251H	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	251					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGGCAGGCAGCGCAGGCGGAA	0.652													False	0	True	10:125804230	0	T	125804230	C	T	125804230	3	4	88	1	0	0	0	0	1	0	0	0	3426	768	27	1	957	1	CHST15	10	125804230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	125804230	9730517	11081	18793	215	2									
OAT	4942	broad.mit.edu	37	chr10	126094013	126094013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagtgaaatacctccagtgCgggcagatcattatagggaa	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126094013C>T	ENST00000368845.5	-	5	732	c.640G>A	c.(640-642)Gca>Aca	p.A214T	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Missense_Mutation_p.A76T	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	214					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	ACCTCCAGTGCGGGCAGATCA	0.403													False	0	True	10:126094013	0	T	126094013	C	T	126094013	3	4	88	1	0	0	0	0	1	0	0	0	10871	768	27	1	703	1	OAT	10	126094013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	289783	126094013	9440734	11082	18794											
OAT	4942	broad.mit.edu	37	chr10	126100554	126100554	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaacgtaccttttcctctctCcagggctacaggtaaaggat	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126100554C>A	ENST00000368845.5	-	2	279	c.187G>T	c.(187-189)Gag>Tag	p.E63*	OAT_ENST00000539214.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	63					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	TTTCCTCTCTCCAGGGCTACA	0.348													False	0	True	10:126100554	0	A	126100554	C	A	126100554	4	1	88	1	0	0	0	0	0	1	0	0	10871	864	30	3	1168	3	OAT	10	126100554	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6541	126100554	9434193	11083	18795											
FAM53B	9679	broad.mit.edu	37	chr10	126395270	126395270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgaggctttcacttaGgaccatcaccatgataaggg	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126395270G>T	ENST00000337318.3	-	2	224	c.13C>A	c.(13-15)Cta>Ata	p.L5I	RP11-12J10.3_ENST00000494792.1_3'UTR|RP11-464O2.2_ENST00000432699.1_RNA|RP11-464O2.2_ENST00000448422.2_RNA|FAM53B_ENST00000280780.6_Missense_Mutation_p.L5I|FAM53B_ENST00000392754.3_Missense_Mutation_p.L5I	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	5										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CTTTCACTTAGGACCATCACC	0.592													False	0	False	10:126395270	0	T	126395270	G	T	126395270	3	4	88	1	0	0	0	0	1	0	0	0	5620	991	35	3	1271	3	FAM53B	10	126395270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294716	126395270	9139477	11084	18796											
CTBP2	1488	broad.mit.edu	37	chr10	126681860	126681860	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcagtgtgaggagtgcagAtgagattcggggcatctttc	16	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126681860A>C	ENST00000309035.6	-	7	2700	c.2570T>G	c.(2569-2571)aTc>aGc	p.I857S	CTBP2_ENST00000494626.2_Missense_Mutation_p.I317S|CTBP2_ENST00000334808.6_Missense_Mutation_p.I385S|CTBP2_ENST00000337195.5_Missense_Mutation_p.I317S|CTBP2_ENST00000531469.1_Missense_Mutation_p.I317S|CTBP2_ENST00000411419.2_Missense_Mutation_p.I317S	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	317					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGGAGTGCAGATGAGATTCGG	0.562													False	0	False	10:126681860	0	C	126681860	A	C	126681860	3	2	88	1	0	0	0	0	1	0	0	0	4023	333	12	4	399	4	CTBP2	10	126681860	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	286590	126681860	8852887	11085	18797											
CTBP2	1488	broad.mit.edu	37	chr10	126691615	126691615	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggccttgaacttctccaggTcctccctggtgagggtgatg	14	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126691615T>C	ENST00000309035.6	-	3	2022	c.1892A>G	c.(1891-1893)gAc>gGc	p.D631G	CTBP2_ENST00000494626.2_Missense_Mutation_p.D91G|CTBP2_ENST00000334808.6_Missense_Mutation_p.D159G|CTBP2_ENST00000337195.5_Missense_Mutation_p.D91G|CTBP2_ENST00000531469.1_Missense_Mutation_p.D91G|CTBP2_ENST00000411419.2_Missense_Mutation_p.D91G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	91					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTCTCCAGGTCCTCCCTGGT	0.617													False	0	False	10:126691615	0	C	126691615	T	C	126691615	3	2	88	1	0	0	0	0	1	0	0	0	4023	1667	58	4	1093	4	CTBP2	10	126691615	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9755	126691615	8843132	11086	18798											
CTBP2	1488	broad.mit.edu	37	chr10	126715800	126715800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccctgctctgtgtctgccGcccctgagggatcattttac	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126715800G>A	ENST00000309035.6	-	1	659	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TGTGTCTGCCGCCCCTGAGGG	0.652													False	0	True	10:126715800	0	A	126715800	G	A	126715800	3	1	88	1	0	0	0	0	1	0	0	0	4023	1086	38	1	2464	1	CTBP2	10	126715800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24185	126715800	8818947	11087	18799											
C10orf137	26098	broad.mit.edu	37	chr10	127417664	127417664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttattcaatgacggggaGcacagtcaggtatgctttcc	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127417664G>A	ENST00000356792.4	+	7	1117	c.885G>A	c.(883-885)gaG>gaA	p.E295E	C10orf137_ENST00000337623.3_Intron	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATGACGGGGAGCACAGTCAGG	0.453													False	0	False	10:127417664	0	A	127417664	G	A	127417664	2	1	88	1	0	0	0	0	0	0	0	1	1602	986	34	2		2	C10orf137	10	127417664	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	701864	127417664	8117083	11088	18800											
C10orf137	26098	broad.mit.edu	37	chr10	127421991	127421991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaatatgaaatgataaagAcagaagaaattcccaatttg	7	4	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127421991A>G	ENST00000337623.3	+	9	1150	c.1045A>G	c.(1045-1047)Aca>Gca	p.T349A	C10orf137_ENST00000356792.4_Missense_Mutation_p.T383A	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AATGATAAAGACAGAAGAAAT	0.279													False	0	False	10:127421991	0	G	127421991	A	G	127421991	3	3	88	1	0	0	0	0	1	0	0	0	1602	275	10	4	1079	4	C10orf137	10	127421991	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4327	127421991	8112756	11089	18801											
C10orf137	26098	broad.mit.edu	37	chr10	127442353	127442353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctcagtatatttgagtctCggttgtcatttcttctcctt	6	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127442353C>T	ENST00000337623.3	+	23	3487	c.3382C>T	c.(3382-3384)Cgg>Tgg	p.R1128W	C10orf137_ENST00000356792.4_Missense_Mutation_p.R1162W	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	1162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTGAGTCTCGGTTGTCATT	0.393													False	0	False	10:127442353	0	T	127442353	C	T	127442353	3	4	88	1	0	0	0	0	1	0	0	0	1602	875	31	1	3472	1	C10orf137	10	127442353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20362	127442353	8092394	11090	18802											
MMP21	118856	broad.mit.edu	37	chr10	127456127	127456127	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgaagaagtaaattaActtctgtcttcggtcataaa	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127456127A>G	ENST00000368808.3	-	6	1383	c.1384T>C	c.(1384-1386)Tta>Cta	p.L462L		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	462	Hemopexin-like 3.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAGTAAATTAACTTCTGTCTT	0.423													False	0	False	10:127456127	0	G	127456127	A	G	127456127	2	3	88	1	0	0	0	0	0	0	0	1	9727	40	2	4		4	MMP21	10	127456127	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13774	127456127	8078620	11091	18803											
MMP21	118856	broad.mit.edu	37	chr10	127459093	127459093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctaaatctcaccatcacCtctccatattggtttctctc	4	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127459093C>T	ENST00000368808.3	-	5	1046	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	349	Hemopexin-like 1.		E -> G (in dbSNP:rs28381302).		proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCACCATCACCTCTCCATATT	0.418													False	0	False	10:127459093	0	T	127459093	C	T	127459093	2	4	88	1	0	0	0	0	0	0	0	1	9727	680	24	2		2	MMP21	10	127459093	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2966	127459093	8075654	11092	18804											
MMP21	118856	broad.mit.edu	37	chr10	127461256	127461256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagtgaatgtcacctaggCgccaggcgtgtgcaaactcc	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127461256C>T	ENST00000368808.3	-	3	760	c.761G>A	c.(760-762)cGc>cAc	p.R254H		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	254					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTCACCTAGGCGCCAGGCGTG	0.637													False	0	False	10:127461256	0	T	127461256	C	T	127461256	3	4	88	1	0	0	0	0	1	0	0	0	9727	768	27	1	968	1	MMP21	10	127461256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2163	127461256	8073491	11093	18805											
UROS	7390	broad.mit.edu	37	chr10	127503679	127503679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtaaaaatgagtcccccGtaatcttcaggatgagaaag	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127503679G>A	ENST00000368778.3	-	4	361	c.168C>T	c.(166-168)taC>taT	p.Y56Y	UROS_ENST00000368797.4_Silent_p.Y56Y|UROS_ENST00000368774.1_Silent_p.Y56Y|UROS_ENST00000368786.1_Silent_p.Y56Y			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	56					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TGAGTCCCCCGTAATCTTCAG	0.438													False	0	True	10:127503679	0	A	127503679	G	A	127503679	2	1	88	1	0	0	0	0	0	0	0	1	17114	1140	40	1		1	UROS	10	127503679	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42423	127503679	8031068	11094	18806											
BCCIP	56647	broad.mit.edu	37	chr10	127516166	127516166	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaacactgcagaactaacaGatctcttaattcaacagaac	5	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127516166G>T	ENST00000299130.3	+	3	292	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	BCCIP_ENST00000368759.5_Missense_Mutation_p.D94Y|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000429863.2_Missense_Mutation_p.D94Y|BCCIP_ENST00000278100.6_Missense_Mutation_p.D94Y	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	94	Interaction with BRCA2.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGAACTAACAGATCTCTTAAT	0.308													False	0	False	10:127516166	0	T	127516166	G	T	127516166	3	4	88	1	0	0	0	0	1	0	0	0	1360	942	33	3	290	3	BCCIP	10	127516166	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12487	127516166	8018581	11095	18807											
DHX32	55760	broad.mit.edu	37	chr10	127529488	127529488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagggtaaagtgatctccttCgggatgtaaaaatgtcttcc	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127529488C>T	ENST00000284690.3	-	8	2111	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	BCCIP_ENST00000299130.3_Intron|BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000429863.2_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.E165K|DHX32_ENST00000284688.6_Missense_Mutation_p.E460K	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	541						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATCTCCTTCGGGATGTAAA	0.413													False	0	True	10:127529488	0	T	127529488	C	T	127529488	3	4	88	1	0	0	0	0	1	0	0	0	4535	893	31	1	626	1	DHX32	10	127529488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13322	127529488	8005259	11096	18808											
DHX32	55760	broad.mit.edu	37	chr10	127542554	127542554	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttctttccacacccacatcGataacaaatctgactgagtt	4	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127542554G>A	ENST00000284690.3	-	4	1558	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	DHX32_ENST00000368721.1_5'UTR|DHX32_ENST00000284688.6_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	356						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CACCCACATCGATAACAAATC	0.378													False	0	False	10:127542554	0	A	127542554	G	A	127542554	2	1	88	1	0	0	0	0	0	0	0	1	4535	1048	37	1		1	DHX32	10	127542554	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13066	127542554	7992193	11097	18809											
ADAM12	8038	broad.mit.edu	37	chr10	127786984	127786984	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaatgcccttggcttaCcatgacaattcccccagact	5	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127786984C>A	ENST00000368679.4	-	10	1315		c.e10+1		ADAM12_ENST00000368676.4_Splice_Site	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12						cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTTGGCTTACCATGACAATT	0.473													False	0	False	10:127786984	0	A	127786984	C	A	127786984	5	1	88	1	0	0	0	0	0	0	1	0	236	521	18	3	1887	3	ADAM12	10	127786984	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244430	127786984	7747763	11098	18810											
ADAM12	8038	broad.mit.edu	37	chr10	127806713	127806713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgcttttcagcttcttcGctgggaagagtttgtatctg	12	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127806713G>A	ENST00000368679.4	-	6	815	c.506C>T	c.(505-507)gCg>gTg	p.A169V	ADAM12_ENST00000368676.4_Missense_Mutation_p.A169V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	169					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CAGCTTCTTCGCTGGGAAGAG	0.438													False	0	False	10:127806713	0	A	127806713	G	A	127806713	3	1	88	1	0	0	0	0	1	0	0	0	236	1087	38	1	2403	1	ADAM12	10	127806713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19729	127806713	7728034	11099	18811											
DOCK1	1793	broad.mit.edu	37	chr10	128908593	128908593	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactgcttgatcgaaatcgtCcacagtgacctcttcacaca	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:128908593C>T	ENST00000280333.6	+	25	2644	c.2535C>T	c.(2533-2535)gtC>gtT	p.V845V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	845					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCGAAATCGTCCACAGTGACC	0.428													False	0	False	10:128908593	0	T	128908593	C	T	128908593	2	4	88	1	0	0	0	0	0	0	0	1	4714	842	30	2		2	DOCK1	10	128908593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1101880	128908593	6626154	11100	18812											
FAM196A	642938	broad.mit.edu	37	chr10	128973575	128973575	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagttctccatcatctgaAgttgtgctttgaggtcgacc	9	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:128973575A>C	ENST00000522781.1	-	4	1640	c.1085T>G	c.(1084-1086)cTt>cGt	p.L362R	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.L362R	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	362										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CATCATCTGAAGTTGTGCTTT	0.537													False	0	False	10:128973575	0	C	128973575	A	C	128973575	3	2	88	1	0	0	0	0	1	0	0	0	5564	72	3	4	366	4	FAM196A	10	128973575	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64982	128973575	6561172	11101	18813											
DOCK1	1793	broad.mit.edu	37	chr10	129160443	129160443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttctttgatatgatgcaGtgtgaattccattcgacccg	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129160443G>A	ENST00000280333.6	+	33	3445	c.3336G>A	c.(3334-3336)caG>caA	p.Q1112Q		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1112	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATATGATGCAGTGTGAATTCC	0.488													False	0	False	10:129160443	0	A	129160443	G	A	129160443	2	1	88	1	0	0	0	0	0	0	0	1	4714	1020	36	2		2	DOCK1	10	129160443	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186868	129160443	6374304	11102	18814											
DOCK1	1793	broad.mit.edu	37	chr10	129202634	129202634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcgtcaaagtgatcaggCccaagcctgactattttgct	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129202634C>T	ENST00000280333.6	+	40	4109	c.4000C>T	c.(4000-4002)Ccc>Tcc	p.P1334S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1334	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGTGATCAGGCCCAAGCCTGA	0.438													False	0	True	10:129202634	0	T	129202634	C	T	129202634	3	4	88	1	0	0	0	0	1	0	0	0	4714	739	26	2	4158	2	DOCK1	10	129202634	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42191	129202634	6332113	11103	18815											
DOCK1	1793	broad.mit.edu	37	chr10	129224193	129224193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaaagtcacggaggcacTgaggccgttccacgagagga	14	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129224193T>C	ENST00000280333.6	+	47	4878	c.4769T>C	c.(4768-4770)cTg>cCg	p.L1590P		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1590	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACGGAGGCACTGAGGCCGTTC	0.488													False	0	False	10:129224193	0	C	129224193	T	C	129224193	3	2	88	1	0	0	0	0	1	0	0	0	4714	1580	55	4	4955	4	DOCK1	10	129224193	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21559	129224193	6310554	11104	18816											
CLRN3	119467	broad.mit.edu	37	chr10	129690991	129690991	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagcaaattacaatgaaggAcccaaggctggtgaaaaagc	11	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129690991A>T	ENST00000368671.3	-	1	220	c.58T>A	c.(58-60)Tcc>Acc	p.S20T		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	20						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				ACAATGAAGGACCCAAGGCTG	0.383													False	0	True	10:129690991	0	T	129690991	A	T	129690991	3	4	88	1	0	0	0	0	1	0	0	0	3582	275	10	5	634	5	CLRN3	10	129690991	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	466798	129690991	5843756	11105	18817											
PTPRE	5791	broad.mit.edu	37	chr10	129868066	129868066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctcgaatccgtaatcAgcgccctcagatggttcaaa	9	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129868066A>G	ENST00000254667.3	+	13	1397	c.1118A>G	c.(1117-1119)cAg>cGg	p.Q373R	PTPRE_ENST00000306042.5_Missense_Mutation_p.Q315R|PTPRE_ENST00000419012.2_Missense_Mutation_p.Q373R	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	373	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ATCCGTAATCAGCGCCCTCAG	0.542											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	10:129868066	0	G	129868066	A	G	129868066	3	3	88	1	0	0	0	0	1	0	0	0	12879	188	7	4	1199	4	PTPRE	10	129868066	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	177075	129868066	5666681	11106	18818											
MKI67	4288	broad.mit.edu	37	chr10	129901952	129901952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgcctctttgtgcttgCtgtggtgtctaccacttcta	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129901952C>T	ENST00000368654.3	-	13	8527	c.8152G>A	c.(8152-8154)Gca>Aca	p.A2718T	MKI67_ENST00000368653.3_Missense_Mutation_p.A2358T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2718	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGTGCTTGCTGTGGTGTCT	0.493													False	0	True	10:129901952	0	T	129901952	C	T	129901952	3	4	88	1	0	0	0	0	1	0	0	0	9665	797	28	2	1630	2	MKI67	10	129901952	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33886	129901952	5632795	11107	18819											
MKI67	4288	broad.mit.edu	37	chr10	129903573	129903573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttcttggctgcctcttGctaccagttacacttgctgc	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129903573G>A	ENST00000368654.3	-	13	6906	c.6531C>T	c.(6529-6531)agC>agT	p.S2177S	MKI67_ENST00000368653.3_Silent_p.S1817S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2177	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGCCTCTTGCTACCAGTTA	0.493													False	0	False	10:129903573	0	A	129903573	G	A	129903573	2	1	88	1	0	0	0	0	0	0	0	1	9665	1310	46	2		2	MKI67	10	129903573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1621	129903573	5631174	11108	18820											
MKI67	4288	broad.mit.edu	37	chr10	129904345	129904345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccactggagtccccacaAatgtgttgatgtctttctct	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129904345A>G	ENST00000368654.3	-	13	6134	c.5759T>C	c.(5758-5760)tTt>tCt	p.F1920S	MKI67_ENST00000368653.3_Missense_Mutation_p.F1560S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1920	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTCCCCACAAATGTGTTGAT	0.468													False	0	True	10:129904345	0	G	129904345	A	G	129904345	3	3	88	1	0	0	0	0	1	0	0	0	9665	14	1	4	4023	4	MKI67	10	129904345	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	772	129904345	5630402	11109	18821											
MKI67	4288	broad.mit.edu	37	chr10	129905528	129905528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgttcgtttcctgagtgCgaagaattcttcttctacgt	10	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129905528C>T	ENST00000368654.3	-	13	4951	c.4576G>A	c.(4576-4578)Gca>Aca	p.A1526T	MKI67_ENST00000368653.3_Missense_Mutation_p.A1166T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1526	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCTGAGTGCGAAGAATTCT	0.493													False	0	False	10:129905528	0	T	129905528	C	T	129905528	3	4	88	1	0	0	0	0	1	0	0	0	9665	768	27	1	5206	1	MKI67	10	129905528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1183	129905528	5629219	11110	18822											
MKI67	4288	broad.mit.edu	37	chr10	129906354	129906354	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgactgtggagagtcgcaGggtattttagtggttttacc	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129906354G>T	ENST00000368654.3	-	13	4125	c.3750C>A	c.(3748-3750)ccC>ccA	p.P1250P	MKI67_ENST00000368653.3_Silent_p.P890P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1250	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAGAGTCGCAGGGTATTTTAG	0.512													False	0	True	10:129906354	0	T	129906354	G	T	129906354	2	4	88	1	0	0	0	0	0	0	0	1	9665	987	35	3		3	MKI67	10	129906354	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	826	129906354	5628393	11111	18823											
MKI67	4288	broad.mit.edu	37	chr10	129906523	129906523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtccagtttctgcactGgagttcccataaatgcttta	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129906523G>A	ENST00000368654.3	-	13	3956	c.3581C>T	c.(3580-3582)cCa>cTa	p.P1194L	MKI67_ENST00000368653.3_Missense_Mutation_p.P834L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1194	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCTGCACTGGAGTTCCCAT	0.493													False	0	False	10:129906523	0	A	129906523	G	A	129906523	3	1	88	1	0	0	0	0	1	0	0	0	9665	1348	47	2	6201	2	MKI67	10	129906523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169	129906523	5628224	11112	18824											
MKI67	4288	broad.mit.edu	37	chr10	129907026	129907026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctactttccccagggatgcCttcaactgttgttttgtgtg	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129907026C>T	ENST00000368654.3	-	13	3453	c.3078G>A	c.(3076-3078)aaG>aaA	p.K1026K	MKI67_ENST00000368653.3_Silent_p.K666K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1026	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCAGGGATGCCTTCAACTGTT	0.507													False	0	False	10:129907026	0	T	129907026	C	T	129907026	2	4	88	1	0	0	0	0	0	0	0	1	9665	680	24	2		2	MKI67	10	129907026	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	503	129907026	5627721	11113	18825											
MKI67	4288	broad.mit.edu	37	chr10	129913211	129913211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaatggaatcaccaaagttGttgatatcaactgaactaag	7	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129913211G>A	ENST00000368654.3	-	7	1836	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	487					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CACCAAAGTTGTTGATATCAA	0.378													False	0	False	10:129913211	0	A	129913211	G	A	129913211	2	1	88	1	0	0	0	0	0	0	0	1	9665	1368	48	2		2	MKI67	10	129913211	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6185	129913211	5621536	11114	18826											
MKI67	4288	broad.mit.edu	37	chr10	129914033	129914033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcaattctccataacgGctcactaatttaacgctgga	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129914033G>A	ENST00000368654.3	-	7	1014	c.639C>T	c.(637-639)agC>agT	p.S213S	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	213					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCCATAACGGCTCACTAATT	0.388													False	0	False	10:129914033	0	A	129914033	G	A	129914033	2	1	88	1	0	0	0	0	0	0	0	1	9665	1194	42	2		2	MKI67	10	129914033	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	822	129914033	5620714	11115	18827											
EBF3	253738	broad.mit.edu	37	chr10	131640509	131640509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttgtgattgcggggaaCgctgtacagcgcctcggcga	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131640509C>T	ENST00000368648.3	-	13	1288	c.1216G>A	c.(1216-1218)Gtt>Att	p.V406I	EBF3_ENST00000355311.5_Missense_Mutation_p.V415I	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	415					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTGCGGGGAACGCTGTACAGC	0.642													False	0	False	10:131640509	0	T	131640509	C	T	131640509	3	4	88	1	0	0	0	0	1	0	0	0	4912	536	19	1	455	1	EBF3	10	131640509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1726476	131640509	3894238	11116	18828											
EBF3	253738	broad.mit.edu	37	chr10	131666130	131666130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgacggtggcacccccCgtggtccagccttcactggg	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131666130C>T	ENST00000368648.3	-	9	873	c.801G>A	c.(799-801)acG>acA	p.T267T	EBF3_ENST00000355311.5_Silent_p.T276T	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	276	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGGCACCCCCCGTGGTCCAGC	0.582													False	0	True	10:131666130	0	T	131666130	C	T	131666130	2	4	88	1	0	0	0	0	0	0	0	1	4912	639	23	1		1	EBF3	10	131666130	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25621	131666130	3868617	11117	18829											
EBF3	253738	broad.mit.edu	37	chr10	131761748	131761748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttccggaggttggaaggCggctgcttctcgaagtgcgc	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131761748C>T	ENST00000368648.3	-	2	246	c.174G>A	c.(172-174)ccG>ccA	p.P58P	EBF3_ENST00000355311.5_Silent_p.P58P	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	58					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGTTGGAAGGCGGCTGCTTCT	0.672													False	0	False	10:131761748	0	T	131761748	C	T	131761748	2	4	88	1	0	0	0	0	0	0	0	1	4912	755	27	1		1	EBF3	10	131761748	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95618	131761748	3772999	11118	18830											
GLRX3	10539	broad.mit.edu	37	chr10	131973336	131973336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaggggagctggtgggaGgattggatattgtgaaggta	19	1	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131973336G>A	ENST00000368644.1	+	10	962	c.940G>A	c.(940-942)Gga>Aga	p.G314R	GLRX3_ENST00000331244.5_Missense_Mutation_p.G314R	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	314	Glutaredoxin 2.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GCTGGTGGGAGGATTGGATAT	0.393													False	0	False	10:131973336	0	A	131973336	G	A	131973336	3	1	88	1	0	0	0	0	1	0	0	0	6506	1001	35	2	978	2	GLRX3	10	131973336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	211588	131973336	3561411	11119	18831											
TCERG1L	256536	broad.mit.edu	37	chr10	132891434	132891434	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttcacaaactcatctcatTttccgcagccttagtctgtt	4	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:132891434T>G	ENST00000368642.4	-	12	1837	c.1752A>C	c.(1750-1752)aaA>aaC	p.K584N		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	584										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTCATCTCATTTTCCGCAGCC	0.512													False	0	True	10:132891434	0	G	132891434	T	G	132891434	3	3	88	1	0	0	0	0	1	0	0	0	15768	1838	64	4	12	4	TCERG1L	10	132891434	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	918098	132891434	2643313	11120	18832											
TCERG1L	256536	broad.mit.edu	37	chr10	133058578	133058578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaaggtcaggaagtggCgcggctgcacgctggagggg	20	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133058578C>T	ENST00000368642.4	-	4	885	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	267										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CAGGAAGTGGCGCGGCTGCAC	0.701													False	0	False	10:133058578	0	T	133058578	C	T	133058578	3	4	88	1	0	0	0	0	1	0	0	0	15768	768	27	1	996	1	TCERG1L	10	133058578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167144	133058578	2476169	11121	18833											
BNIP3	664	broad.mit.edu	37	chr10	133784250	133784250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgctcgtgttcctcatgCtgagggtggccgtgcgcttc	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133784250C>T	ENST00000540159.1	-	5	547	c.431G>A	c.(430-432)aGc>aAc	p.S144N	BNIP3_ENST00000368636.4_Missense_Mutation_p.S144N			Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	144					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTCCTCATGCTGAGGGTGGC	0.537													False	0	False	10:133784250	0	T	133784250	C	T	133784250	3	4	88	1	0	0	0	0	1	0	0	0	1483	797	28	2	161	2	BNIP3	10	133784250	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	725672	133784250	1750497	11122	18834											
JAKMIP3	282973	broad.mit.edu	37	chr10	133955529	133955529	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcaggttggagggacgCtggacgcagagcgagaagtt	19	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133955529C>T	ENST00000298622.4	+	10	1717	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGAGGGACGCTGGACGCAGA	0.657													False	0	False	10:133955529	0	T	133955529	C	T	133955529	2	4	88	1	0	0	0	0	0	0	0	1	7992	796	28	2		2	JAKMIP3	10	133955529	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171279	133955529	1579218	11123	18835											
DPYSL4	10570	broad.mit.edu	37	chr10	134010555	134010555	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagcatcatccgggacCtgggggccttggcccaggtg	14	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134010555C>A	ENST00000338492.4	+	6	735	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	DPYSL4_ENST00000368629.1_Missense_Mutation_p.L114M|DPYSL4_ENST00000368627.1_Missense_Mutation_p.L114M	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	191					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CATCCGGGACCTGGGGGCCTT	0.682													False	0	False	10:134010555	0	A	134010555	C	A	134010555	3	1	88	1	0	0	0	0	1	0	0	0	4779	680	24	3	593	3	DPYSL4	10	134010555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55026	134010555	1524192	11124	18836											
DPYSL4	10570	broad.mit.edu	37	chr10	134012464	134012464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgacgccatcgctcaggCcaagcgcagaggtgagcacc	14	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134012464C>T	ENST00000338492.4	+	8	964	c.800C>T	c.(799-801)gCc>gTc	p.A267V	DPYSL4_ENST00000368629.1_Missense_Mutation_p.A167V|DPYSL4_ENST00000368627.1_Missense_Mutation_p.A167V	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	267					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ATCGCTCAGGCCAAGCGCAGA	0.672													False	0	False	10:134012464	0	T	134012464	C	T	134012464	3	4	88	1	0	0	0	0	1	0	0	0	4779	739	26	2	830	2	DPYSL4	10	134012464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1909	134012464	1522283	11125	18837											
LRRC27	80313	broad.mit.edu	37	chr10	134158066	134158066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggaattccctcctcagctCgttgtgcagaagggattggt	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134158066C>T	ENST00000356571.4	+	4	518	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	LRRC27_ENST00000368615.3_Silent_p.L155L|LRRC27_ENST00000392638.2_Silent_p.L155L|LRRC27_ENST00000344079.5_Silent_p.L155L|LRRC27_ENST00000432555.2_Silent_p.L28L|LRRC27_ENST00000368612.1_Silent_p.L93L|LRRC27_ENST00000368613.4_Silent_p.L155L|LRRC27_ENST00000368614.3_Silent_p.L155L|LRRC27_ENST00000368610.3_Silent_p.L93L			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	16										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTCCTCAGCTCGTTGTGCAGA	0.512													False	0	False	10:134158066	0	T	134158066	C	T	134158066	3	4	88	1	0	0	0	0	1	0	0	0	9043	871	31	1	479	1	LRRC27	10	134158066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145602	134158066	1376681	11126	18838											
LRRC27	80313	broad.mit.edu	37	chr10	134161812	134161812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacctccaaatctcaaggCggccttgaacattgagaaag	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134161812C>T	ENST00000392638.2	+	6	1073	c.878C>T	c.(877-879)gCg>gTg	p.A293V	LRRC27_ENST00000368615.3_Missense_Mutation_p.A293V|LRRC27_ENST00000344079.5_Missense_Mutation_p.A293V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A166V|LRRC27_ENST00000368612.1_Missense_Mutation_p.A231V|LRRC27_ENST00000368613.4_Missense_Mutation_p.A293V|LRRC27_ENST00000368614.3_Missense_Mutation_p.A293V|LRRC27_ENST00000368610.3_Missense_Mutation_p.A231V			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	293										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AATCTCAAGGCGGCCTTGAAC	0.463													False	0	False	10:134161812	0	T	134161812	C	T	134161812	3	4	88	1	0	0	0	0	1	0	0	0	9043	768	27	1	896	1	LRRC27	10	134161812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3746	134161812	1372935	11127	18839											
LRRC27	80313	broad.mit.edu	37	chr10	134188633	134188633	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaccttgaacaaagatcgtCgacgggcggccctcactgga	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134188633C>T	ENST00000368610.3	+	10	1294	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.R432*|LRRC27_ENST00000368613.4_Nonsense_Mutation_p.R494*|LRRC27_ENST00000368614.3_Nonsense_Mutation_p.R494*			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	494										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CAAAGATCGTCGACGGGCGGC	0.468													False	0	False	10:134188633	0	T	134188633	C	T	134188633	4	4	88	1	0	0	0	0	0	1	0	0	9043	876	31	1	1700	1	LRRC27	10	134188633	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26821	134188633	1346114	11128	18840											
LRRC27	80313	broad.mit.edu	37	chr10	134188732	134188732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggagaatcaggaaatgttCgcagataccagtgacaccag	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134188732C>T	ENST00000368610.3	+	10	1393	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C	LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.R465C|LRRC27_ENST00000368613.4_Missense_Mutation_p.R527C|LRRC27_ENST00000368614.3_Missense_Mutation_p.R527C			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	527										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGAAATGTTCGCAGATACCA	0.552													False	0	False	10:134188732	0	T	134188732	C	T	134188732	3	4	88	1	0	0	0	0	1	0	0	0	9043	884	31	1	1799	1	LRRC27	10	134188732	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99	134188732	1346015	11129	18841											
PWWP2B	170394	broad.mit.edu	37	chr10	134218335	134218335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcgtgccgccgctgcccGccggaagcctgcccccgtac	11	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134218335G>A	ENST00000305233.5	+	2	390	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	PWWP2B_ENST00000368609.4_Missense_Mutation_p.A111T	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	111	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCGCTGCCCGCCGGAAGCCT	0.756													False	0	True	10:134218335	0	A	134218335	G	A	134218335	3	1	88	1	0	0	0	0	1	0	0	0	12925	1087	38	1	337	1	PWWP2B	10	134218335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29603	134218335	1316412	11130	18842											
PWWP2B	170394	broad.mit.edu	37	chr10	134219145	134219145	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgggctggcggacttgTcttctggaagttcgggtgag	18	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134219145T>C	ENST00000305233.5	+	2	1200	c.1141T>C	c.(1141-1143)Tct>Cct	p.S381P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.S381P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	381										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGCGGACTTGTCTTCTGGAAG	0.677													False	0	False	10:134219145	0	C	134219145	T	C	134219145	3	2	88	1	0	0	0	0	1	0	0	0	12925	1667	58	4	1147	4	PWWP2B	10	134219145	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	810	134219145	1315602	11131	18843											
PWWP2B	170394	broad.mit.edu	37	chr10	134219225	134219225	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcgagggcttggcttttctCgtcagctgccctgaggggag	16	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134219225C>T	ENST00000305233.5	+	2	1280	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	PWWP2B_ENST00000368609.4_Silent_p.L407L	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	407										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGGCTTTTCTCGTCAGCTGCC	0.657													False	0	False	10:134219225	0	T	134219225	C	T	134219225	2	4	88	1	0	0	0	0	0	0	0	1	12925	871	31	1		1	PWWP2B	10	134219225	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	134219225	1315522	11132	18844											
INPP5A	3632	broad.mit.edu	37	chr10	134563063	134563063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagacggtccgggccgccGacaccaatgaagtggtgaag	15	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134563063G>A	ENST00000368594.3	+	10	1052	c.775G>A	c.(775-777)Gac>Aac	p.D259N	INPP5A_ENST00000368593.3_Missense_Mutation_p.D259N	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	259					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CCGGGCCGCCGACACCAATGA	0.632													False	0	False	10:134563063	0	A	134563063	G	A	134563063	3	1	88	1	0	0	0	0	1	0	0	0	7804	1058	37	1	813	1	INPP5A	10	134563063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343838	134563063	971684	11133	18845											
INPP5A	3632	broad.mit.edu	37	chr10	134591331	134591331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcacagagggatgtggagCgctgggtctggtctggccca	19	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134591331C>T	ENST00000368593.3	+	13	1382	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	INPP5A_ENST00000368594.3_Intron			Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	0					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GGATGTGGAGCGCTGGGTCTG	0.687													False	0	False	10:134591331	0	T	134591331	C	T	134591331	2	4	88	1	0	0	0	0	0	0	0	1	7804	783	27	1		1	INPP5A	10	134591331	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28268	134591331	943416	11134	18846											
NKX6-2	84504	broad.mit.edu	37	chr10	134598469	134598469	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgggctgaccagcgccaagTtcgagggtttgtgcttcttg	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134598469T>G	ENST00000368592.5	-	3	888	c.785A>C	c.(784-786)aAc>aCc	p.N262T		NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2	262						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		CAGCGCCAAGTTCGAGGGTTT	0.677													False	0	False	10:134598469	0	G	134598469	T	G	134598469	3	3	88	1	0	0	0	0	1	0	0	0	10526	1725	60	4	52	4	NKX6-2	10	134598469	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7138	134598469	936278	11135	18847											
GPR123	84435	broad.mit.edu	37	chr10	134884441	134884441	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccggcagatgcgaggCcacgggaaccactcgcggct	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134884441C>T	ENST00000607359.1	+	1	9	c.9C>T	c.(7-9)ggC>ggT	p.G3G				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGATGCGAGGCCACGGGAACC	0.637													False	0	False	10:134884441	0	T	134884441	C	T	134884441	2	4	88	1	0	0	0	0	0	0	0	1	6683	754	26	2		2	GPR123	10	134884441	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	285972	134884441	650306	11136	18848											
GPR123	84435	broad.mit.edu	37	chr10	134893885	134893885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgaagatgctccagggCtgtgggtaaggcagggaagg	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134893885C>A	ENST00000607359.1	+	4	830	c.830C>A	c.(829-831)gCt>gAt	p.A277D				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	329						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGCTCCAGGGCTGTGGGTAAG	0.682													False	0	True	10:134893885	0	A	134893885	C	A	134893885	3	1	88	1	0	0	0	0	1	0	0	0	6683	812	28	3		3	GPR123	10	134893885	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9444	134893885	640862	11137	18849											
GPR123	84435	broad.mit.edu	37	chr10	134942098	134942098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcactcattccaggcacagCtgcgcgccgccgccttcacg	10	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942098C>T	ENST00000607359.1	+	16	2923	c.2923C>T	c.(2923-2925)Ctg>Ttg	p.L975L	GPR123_ENST00000392606.2_Silent_p.L159L|GPR123_ENST00000392607.3_Silent_p.L256L			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	256						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCAGGCACAGCTGCGCGCCGC	0.701													False	0	False	10:134942098	0	T	134942098	C	T	134942098	2	4	88	1	0	0	0	0	0	0	0	1	6683	796	28	2		2	GPR123	10	134942098	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48213	134942098	592649	11138	18850											
GPR123	84435	broad.mit.edu	37	chr10	134942239	134942239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccctgggactcttcgtgCtcatccaccactgcgccaag	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942239C>T	ENST00000607359.1	+	16	3064	c.3064C>T	c.(3064-3066)Ctc>Ttc	p.L1022F	GPR123_ENST00000392606.2_Missense_Mutation_p.L206F|GPR123_ENST00000392607.3_Missense_Mutation_p.L303F			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	303						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACTCTTCGTGCTCATCCACCA	0.682													False	0	False	10:134942239	0	T	134942239	C	T	134942239	3	4	88	1	0	0	0	0	1	0	0	0	6683	797	28	2	929	2	GPR123	10	134942239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141	134942239	592508	11139	18851											
GPR123	84435	broad.mit.edu	37	chr10	134942485	134942485	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccggccaccccgtgctgcGccaagatgcactgcgagcca	11	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942485G>C	ENST00000607359.1	+	16	3310	c.3310G>C	c.(3310-3312)Gcc>Ccc	p.A1104P	GPR123_ENST00000392606.2_Missense_Mutation_p.A288P|GPR123_ENST00000392607.3_Missense_Mutation_p.A385P			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	385						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCCGTGCTGCGCCAAGATGCA	0.721													False	0	False	10:134942485	0	C	134942485	G	C	134942485	3	2	88	1	0	0	0	0	1	0	0	0	6683	1087	38	5	1175	5	GPR123	10	134942485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246	134942485	592262	11140	18852											
GPR123	84435	broad.mit.edu	37	chr10	134942923	134942923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccagccagaacgggctgCccaagggtaaattgctagaa	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942923C>T	ENST00000607359.1	+	16	3748	c.3748C>T	c.(3748-3750)Ccc>Tcc	p.P1250S	GPR123_ENST00000392606.2_Missense_Mutation_p.P434S|GPR123_ENST00000392607.3_Missense_Mutation_p.P531S			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	531						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GAACGGGCTGCCCAAGGGTAA	0.647													False	0	True	10:134942923	0	T	134942923	C	T	134942923	3	4	88	1	0	0	0	0	1	0	0	0	6683	739	26	2	1613	2	GPR123	10	134942923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	438	134942923	591824	11141	18853											
KNDC1	85442	broad.mit.edu	37	chr10	134996942	134996942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagccaagacctcgaggCgctgctgagccggatgcagg	16	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134996942C>T	ENST00000304613.3	+	4	476	c.455C>T	c.(454-456)gCg>gTg	p.A152V	KNDC1_ENST00000368571.2_Missense_Mutation_p.A87V|KNDC1_ENST00000368572.2_Missense_Mutation_p.A152V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	152	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GACCTCGAGGCGCTGCTGAGC	0.697													False	0	False	10:134996942	0	T	134996942	C	T	134996942	3	4	88	1	0	0	0	0	1	0	0	0	8476	768	27	1	469	1	KNDC1	10	134996942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54019	134996942	537805	11142	18854											
KNDC1	85442	broad.mit.edu	37	chr10	134999981	134999981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aacaccagctgggacgggttCcctgtgcaggccgcagcacg	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134999981C>A	ENST00000304613.3	+	6	1150	c.1129C>A	c.(1129-1131)Ccc>Acc	p.P377T	KNDC1_ENST00000368571.2_Missense_Mutation_p.P312T|KNDC1_ENST00000368572.2_Missense_Mutation_p.P377T			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	377					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGACGGGTTCCCTGTGCAGG	0.672													False	0	True	10:134999981	0	A	134999981	C	A	134999981	3	1	88	1	0	0	0	0	1	0	0	0	8476	855	30	3	1151	3	KNDC1	10	134999981	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3039	134999981	534766	11143	18855											
KNDC1	85442	broad.mit.edu	37	chr10	135015230	135015230	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtgacccgactggccaggtCcaaaggggtcggcccagcct	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135015230C>A	ENST00000304613.3	+	17	3236	c.3215C>A	c.(3214-3216)tCc>tAc	p.S1072Y	KNDC1_ENST00000368571.2_Missense_Mutation_p.S1007Y|KNDC1_ENST00000368572.2_Missense_Mutation_p.S1074Y			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1072				S -> P (in Ref. 1; BAD12625).	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGGCCAGGTCCAAAGGGGTC	0.701													False	0	False	10:135015230	0	A	135015230	C	A	135015230	3	1	88	1	0	0	0	0	1	0	0	0	8476	855	30	3	3281	3	KNDC1	10	135015230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15249	135015230	519517	11144	18856											
KNDC1	85442	broad.mit.edu	37	chr10	135025297	135025297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagaaccccagggaggccGaggaggatgccagacccttc	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135025297G>A	ENST00000304613.3	+	23	4192	c.4171G>A	c.(4171-4173)Gag>Aag	p.E1391K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E1393K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1391					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGGGAGGCCGAGGAGGATGC	0.672													False	0	False	10:135025297	0	A	135025297	G	A	135025297	3	1	88	1	0	0	0	0	1	0	0	0	8476	1059	37	1	4261	1	KNDC1	10	135025297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10067	135025297	509450	11145	18857											
KNDC1	85442	broad.mit.edu	37	chr10	135032456	135032456	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggccgtgaggcagtcccCtgtgcgtccccctcgggccc	13	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135032456C>A	ENST00000304613.3	+	27	4820	c.4799C>A	c.(4798-4800)cCt>cAt	p.P1600H	KNDC1_ENST00000368572.2_Splice_Site_p.P1602H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1600	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGCAGTCCCCTGTGCGTCCC	0.597													False	0	True	10:135032456	0	A	135032456	C	A	135032456	5	1	88	1	0	0	0	0	0	0	1	0	8476	695	24	3	4905	3	KNDC1	10	135032456	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7159	135032456	502291	11146	18858											
VENTX	27287	broad.mit.edu	37	chr10	135051472	135051472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctctccagctttggCtccgtggactggctctccca	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135051472C>T	ENST00000325980.9	+	1	565	c.54C>T	c.(52-54)ggC>ggT	p.G18G		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	18					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCAGCTTTGGCTCCGTGGACT	0.726													False	0	False	10:135051472	0	T	135051472	C	T	135051472	2	4	88	1	0	0	0	0	0	0	0	1	17237	784	28	2		2	VENTX	10	135051472	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19016	135051472	483275	11147	18859											
VENTX	27287	broad.mit.edu	37	chr10	135051528	135051528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgacccacacccccaggcCtgccgacttctccctgggga	10	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135051528C>A	ENST00000325980.9	+	1	621	c.110C>A	c.(109-111)cCt>cAt	p.P37H		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	37					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		ACCCCCAGGCCTGCCGACTTC	0.716													False	0	False	10:135051528	0	A	135051528	C	A	135051528	3	1	88	1	0	0	0	0	1	0	0	0	17237	681	24	3	112	3	VENTX	10	135051528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56	135051528	483219	11148	18860											
ADAM8	101	broad.mit.edu	37	chr10	135085191	135085191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggctgcagtcactgaaCatcctggggaaactggagct	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135085191C>T	ENST00000445355.3	-	12	1175	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	ADAM8_ENST00000415217.3_Missense_Mutation_p.M375I|ADAM8_ENST00000485491.2_Missense_Mutation_p.M336I	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	336					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGTCACTGAACATCCTGGGGA	0.682													False	0	False	10:135085191	0	T	135085191	C	T	135085191	3	4	88	1	0	0	0	0	1	0	0	0	252	478	17	2	1315	2	ADAM8	10	135085191	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33663	135085191	449556	11149	18861											
ADAM8	101	broad.mit.edu	37	chr10	135086319	135086319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttgtccacgtgattcaCcacctccagcacccgatgac	6	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135086319C>T	ENST00000445355.3	-	8	738	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	ADAM8_ENST00000415217.3_Missense_Mutation_p.V230M|ADAM8_ENST00000485491.2_Missense_Mutation_p.V191M	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	191					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		ACGTGATTCACCACCTCCAGC	0.672													False	0	False	10:135086319	0	T	135086319	C	T	135086319	3	4	88	1	0	0	0	0	1	0	0	0	252	507	18	2	1768	2	ADAM8	10	135086319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1128	135086319	448428	11150	18862											
TUBGCP2	10844	broad.mit.edu	37	chr10	135095825	135095825	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgcccagctcgccatctaAtttcatgctctgtgtaaatt	6	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095825A>G	ENST00000368563.2	-	16	2667	c.2311T>C	c.(2311-2313)Tta>Cta	p.L771L	TUBGCP2_ENST00000417178.2_Silent_p.L641L|TUBGCP2_ENST00000368562.1_Silent_p.L364L|TUBGCP2_ENST00000252936.3_Silent_p.L771L|TUBGCP2_ENST00000543663.1_Silent_p.L799L	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	771					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TCGCCATCTAATTTCATGCTC	0.582													False	0	True	10:135095825	0	G	135095825	A	G	135095825	2	3	88	1	0	0	0	0	0	0	0	1	16850	98	4	4		4	TUBGCP2	10	135095825	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9506	135095825	438922	11151	18863											
TUBGCP2	10844	broad.mit.edu	37	chr10	135095846	135095846	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgctctgtgtaaattTctagggggggagagtcgcaa	13	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095846T>G	ENST00000368563.2	-	16	2646	c.2290A>C	c.(2290-2292)Aaa>Caa	p.K764Q	TUBGCP2_ENST00000417178.2_Splice_Site_p.K634Q|TUBGCP2_ENST00000368562.1_Splice_Site_p.K357Q|TUBGCP2_ENST00000252936.3_Splice_Site_p.K764Q|TUBGCP2_ENST00000543663.1_Splice_Site_p.K792Q	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	764					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGTGTAAATTTCTAGGGGGGG	0.587													False	0	True	10:135095846	0	G	135095846	T	G	135095846	5	3	88	1	0	0	0	0	0	0	1	0	16850	1797	62	4	430	4	TUBGCP2	10	135095846	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21	135095846	438901	11152	18864											
TUBGCP2	10844	broad.mit.edu	37	chr10	135103451	135103451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcctctccttccgcagctCgtgctcctcgaccataaact	6	17	1	0	rs145657678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135103451C>T	ENST00000368563.2	-	9	1593	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	TUBGCP2_ENST00000417178.2_Missense_Mutation_p.E283K|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.E6K|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.E413K|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.E441K	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	413					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TTCCGCAGCTCGTGCTCCTCG	0.582													False	0	False	10:135103451	0	T	135103451	C	T	135103451	3	4	88	1	0	0	0	0	1	0	0	0	16850	893	31	1	1511	1	TUBGCP2	10	135103451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7605	135103451	431296	11153	18865											
CYP2E1	1571	broad.mit.edu	37	chr10	135345639	135345639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttttgtaggccagcctttcGaccccaccttcctcatcggc	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135345639G>A	ENST00000463117.2	+	6	771	c.499G>A	c.(499-501)Gac>Aac	p.D167N	CYP2E1_ENST00000480558.1_3'UTR|CYP2E1_ENST00000252945.3_Missense_Mutation_p.D167N|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	167					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CCAGCCTTTCGACCCCACCTT	0.552									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				False	0	False	10:135345639	0	A	135345639	G	A	135345639	3	1	88	1	0	0	0	0	1	0	0	0	4195	1058	37	1	513	1	CYP2E1	10	135345639	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242188	135345639	189108	11154	18866											
RIC8A	60626	broad.mit.edu	37	chr11	209565	209565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactagcctgctatgctgaCatctctgtctctgaggggtc	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:209565C>T	ENST00000526104.1	+	3	1635	c.291C>T	c.(289-291)gaC>gaT	p.D97D	RIC8A_ENST00000527696.1_Silent_p.D91D|RIC8A_ENST00000325207.5_Silent_p.D97D			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	97						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTATGCTGACATCTCTGTCT	0.612													False	0	False	11:209565	0	T	209565	C	T	209565	2	4	88	1	0	0	0	0	0	0	0	1	13434	477	17	2		2	RIC8A	11	209565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08		209565	134796951	11155	18867											
ATHL1	80162	broad.mit.edu	37	chr11	290822	290822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttcctgacagcagtgggCggcagccaggctgaggctca	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:290822C>T	ENST00000409548.2	+	4	730	c.615C>T	c.(613-615)ggC>ggT	p.G205G	ATHL1_ENST00000409479.1_Silent_p.G205G|ATHL1_ENST00000409655.1_Silent_p.G28G	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	205					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCAGTGGGCGGCAGCCAGG	0.652													False	0	True	11:290822	0	T	290822	C	T	290822	2	4	88	1	0	0	0	0	0	0	0	1	1108	755	27	1		1	ATHL1	11	290822	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81257	290822	134715694	11156	18868											
B4GALNT4	338707	broad.mit.edu	37	chr11	373496	373496	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaattcaccaagttcagctcCcaggtgtccaagcccaggcg	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:373496C>A	ENST00000329962.6	+	7	684	c.684C>A	c.(682-684)tcC>tcA	p.S228S		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	228						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTCAGCTCCCAGGTGTCCA	0.622													False	0	True	11:373496	0	A	373496	C	A	373496	2	1	88	1	0	0	0	0	0	0	0	1	1273	610	22	3		3	B4GALNT4	11	373496	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82674	373496	134633020	11157	18869											
B4GALNT4	338707	broad.mit.edu	37	chr11	373509	373509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctcccaggtgtccaagCccaggcggtgagtgactgtg	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:373509C>T	ENST00000329962.6	+	7	697	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	233						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGTCCAAGCCCAGGCGGTG	0.622													False	0	True	11:373509	0	T	373509	C	T	373509	3	4	88	1	0	0	0	0	1	0	0	0	1273	739	26	2	723	2	B4GALNT4	11	373509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	373509	134633007	11158	18870											
B4GALNT4	338707	broad.mit.edu	37	chr11	375875	375875	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggaatcttcgagcctggaGaacgtgctggagccctgcgc	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:375875G>T	ENST00000329962.6	+	11	1014	c.1014G>T	c.(1012-1014)gaG>gaT	p.E338D		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	338						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGAGCCTGGAGAACGTGCTGG	0.682													False	0	False	11:375875	0	T	375875	G	T	375875	3	4	88	1	0	0	0	0	1	0	0	0	1273	933	33	3	1056	3	B4GALNT4	11	375875	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2366	375875	134630641	11159	18871											
B4GALNT4	338707	broad.mit.edu	37	chr11	376150	376150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaacaagtgcttctaccGcgagtctccgctgtatctgg	11	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:376150G>A	ENST00000329962.6	+	12	1172	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	391						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTTCTACCGCGAGTCTCCG	0.692													False	0	False	11:376150	0	A	376150	G	A	376150	3	1	88	1	0	0	0	0	1	0	0	0	1273	1087	38	1	1218	1	B4GALNT4	11	376150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275	376150	134630366	11160	18872											
B4GALNT4	338707	broad.mit.edu	37	chr11	377173	377173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggacgccatcgactggcagCgcacgttcagcgtgggcgcc	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:377173C>T	ENST00000329962.6	+	14	2050	c.2050C>T	c.(2050-2052)Cgc>Tgc	p.R684C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	684						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGACTGGCAGCGCACGTTCAG	0.726													False	0	False	11:377173	0	T	377173	C	T	377173	3	4	88	1	0	0	0	0	1	0	0	0	1273	768	27	1	2104	1	B4GALNT4	11	377173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1023	377173	134629343	11161	18873											
B4GALNT4	338707	broad.mit.edu	37	chr11	377297	377297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacgtgaccgctcagtAcatggagcggctgaacgcgc	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:377297A>G	ENST00000329962.6	+	14	2174	c.2174A>G	c.(2173-2175)tAc>tGc	p.Y725C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	725						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCGCTCAGTACATGGAGCGG	0.701													False	0	False	11:377297	0	G	377297	A	G	377297	3	3	88	1	0	0	0	0	1	0	0	0	1273	391	14	4	2228	4	B4GALNT4	11	377297	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	124	377297	134629219	11162	18874											
B4GALNT4	338707	broad.mit.edu	37	chr11	380400	380400	+	Missense_Mutation	SNP	G	G	A													gcaggctggccttcgcgcccGtggtcatgcgcctgagctgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:380400G>A	ENST00000329962.6	+	18	2824	c.2824G>A	c.(2824-2826)Gtg>Atg	p.V942M		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	942				V -> M (in Ref. 2; BAB71566).		Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCGCGCCCGTGGTCATGCG	0.692													False	0	True	11:380400	0	A	380400	G	A	380400	3	1	88	1	0	0	0	0	1	0	0	0	1273	1145	40	1	2894	1	B4GALNT4	11	380400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3103	380400	134626116	11163	18875	216	2									
B4GALNT4	338707	broad.mit.edu	37	chr11	380410	380410	+	Missense_Mutation	SNP	G	G	A													cttcgcgcccgtggtcatgcGcctgagctgcgggagctcgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:380410G>A	ENST00000329962.6	+	18	2834	c.2834G>A	c.(2833-2835)cGc>cAc	p.R945H		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	945						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGTCATGCGCCTGAGCTGC	0.682													False	0	False	11:380410	0	A	380410	G	A	380410	3	1	88	1	0	0	0	0	1	0	0	0	1273	1087	38	1	2904	1	B4GALNT4	11	380410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	380410	134626106	11164	18876	216	2									
PKP3	11187	broad.mit.edu	37	chr11	396980	396980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccctcccatgcccaccaGgcccgtgtccttccatgagc	7	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:396980G>A	ENST00000331563.2	+	3	555	c.479G>A	c.(478-480)aGg>aAg	p.R160K	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	160					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGCCCACCAGGCCCGTGTCC	0.721													False	0	False	11:396980	0	A	396980	G	A	396980	3	1	88	1	0	0	0	0	1	0	0	0	12055	1000	35	2	489	2	PKP3	11	396980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16570	396980	134609536	11165	18877											
PKP3	11187	broad.mit.edu	37	chr11	399008	399008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcccgcagccttcaggCcgtgcctaggctggtgaagc	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:399008C>T	ENST00000331563.2	+	5	1161	c.1085C>T	c.(1084-1086)gCc>gTc	p.A362V		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	362					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCTTCAGGCCGTGCCTAGG	0.612													False	0	False	11:399008	0	T	399008	C	T	399008	3	4	88	1	0	0	0	0	1	0	0	0	12055	739	26	2	1103	2	PKP3	11	399008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2028	399008	134607508	11166	18878											
SIGIRR	59307	broad.mit.edu	37	chr11	405971	405971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgagccgagatccgagacGtccacttcgctgctccggct	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:405971G>A	ENST00000382520.2	-	9	1631	c.1447C>T	c.(1447-1449)Cgt>Tgt	p.R483C	SIGIRR_ENST00000332725.3_Silent_p.D386D|SIGIRR_ENST00000431843.2_Silent_p.D386D|SIGIRR_ENST00000397632.3_Silent_p.D386D|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R483C			Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	0					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATCCGAGACGTCCACTTCGC	0.617													False	0	False	11:405971	0	A	405971	G	A	405971	3	1	88	1	0	0	0	0	1	0	0	0	14385	1136	40	1	78	1	SIGIRR	11	405971	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6963	405971	134600545	11167	18879											
SIGIRR	59307	broad.mit.edu	37	chr11	407518	407518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagttcacgaacttgcGgtcctcggggcagtcgctgt	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:407518G>A	ENST00000431843.2	-	6	838	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000332725.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000397632.3_Missense_Mutation_p.R178C|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R178C|SIGIRR_ENST00000382520.2_Missense_Mutation_p.R178C	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	178	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGAACTTGCGGTCCTCGGGG	0.667													False	0	False	11:407518	0	A	407518	G	A	407518	3	1	88	1	0	0	0	0	1	0	0	0	14385	1116	39	1	720	1	SIGIRR	11	407518	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1547	407518	134598998	11168	18880											
SIGIRR	59307	broad.mit.edu	37	chr11	407555	407555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaggagacgtaggcgtcGtagagcttcccgtctgcgga	15	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:407555G>A	ENST00000431843.2	-	6	801	c.495C>T	c.(493-495)taC>taT	p.Y165Y	SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000332725.3_Silent_p.Y165Y|SIGIRR_ENST00000397632.3_Silent_p.Y165Y|SIGIRR_ENST00000531205.1_Silent_p.Y165Y|SIGIRR_ENST00000382520.2_Silent_p.Y165Y	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	165	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTAGGCGTCGTAGAGCTTCC	0.652													False	0	False	11:407555	0	A	407555	G	A	407555	2	1	88	1	0	0	0	0	0	0	0	1	14385	1140	40	1		1	SIGIRR	11	407555	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	407555	134598961	11169	18881											
ANO9	338440	broad.mit.edu	37	chr11	418966	418966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaagacggacaggctgTggttgacgtagcccttgagg	17	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:418966T>C	ENST00000332826.6	-	21	2042	c.1958A>G	c.(1957-1959)cAc>cGc	p.H653R		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	653						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGACAGGCTGTGGTTGACGTA	0.622													False	0	False	11:418966	0	C	418966	T	C	418966	3	2	88	1	0	0	0	0	1	0	0	0	704	1696	59	4	402	4	ANO9	11	418966	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11411	418966	134587550	11170	18882											
ANO9	338440	broad.mit.edu	37	chr11	420737	420737	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcatctccatgaactcgtcGaacaggctgaaggtgttgac	10	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:420737G>A	ENST00000332826.6	-	18	1698	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	538						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGAACTCGTCGAACAGGCTGA	0.706													False	0	False	11:420737	0	A	420737	G	A	420737	2	1	88	1	0	0	0	0	0	0	0	1	704	1049	37	1		1	ANO9	11	420737	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1771	420737	134585779	11171	18883											
PTDSS2	81490	broad.mit.edu	37	chr11	488249	488249	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgatcatcagcgtgatgttCgagttcctggagtacagcct	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:488249C>T	ENST00000308020.5	+	7	848	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	224						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GCGTGATGTTCGAGTTCCTGG	0.637													False	0	False	11:488249	0	T	488249	C	T	488249	2	4	88	1	0	0	0	0	0	0	0	1	12813	883	31	1		1	PTDSS2	11	488249	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67512	488249	134518267	11172	18884											
PTDSS2	81490	broad.mit.edu	37	chr11	489663	489663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagcactacctggtcctcCtgcggctcgtcttcttcgtg	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:489663C>T	ENST00000308020.5	+	10	1221	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	349						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CCTGGTCCTCCTGCGGCTCGT	0.597													False	0	False	11:489663	0	T	489663	C	T	489663	2	4	88	1	0	0	0	0	0	0	0	1	12813	680	24	2		2	PTDSS2	11	489663	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1414	489663	134516853	11173	18885											
RNH1	6050	broad.mit.edu	37	chr11	494985	494985	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtccagctcacgcaggCtgtggttggccaacagggtt	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:494985C>A	ENST00000534797.1	-	8	2603	c.1196G>T	c.(1195-1197)aGc>aTc	p.S399I	RNH1_ENST00000438658.2_Missense_Mutation_p.S399I|RNH1_ENST00000397604.3_Missense_Mutation_p.S399I|RNH1_ENST00000397614.1_Missense_Mutation_p.S399I|RNH1_ENST00000354420.2_Missense_Mutation_p.S399I|RNH1_ENST00000397615.2_Missense_Mutation_p.S399I|RNH1_ENST00000533410.1_Missense_Mutation_p.S399I|RNH1_ENST00000356187.5_Missense_Mutation_p.S399I			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	399					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCACGCAGGCTGTGGTTGGC	0.687													False	0	False	11:494985	0	A	494985	C	A	494985	3	1	88	1	0	0	0	0	1	0	0	0	13583	797	28	3	197	3	RNH1	11	494985	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5322	494985	134511531	11174	18886											
HRAS	3265	broad.mit.edu	37	chr11	533503	533503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggatgccgtagcttcgggCgaggtcctgagcctgccgag	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:533503C>T	ENST00000417302.1	-	4	587	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	HRAS_ENST00000397596.2_Missense_Mutation_p.A134T|HRAS_ENST00000451590.1_Missense_Mutation_p.A134T|HRAS_ENST00000397594.1_Missense_Mutation_p.A134T|HRAS_ENST00000311189.7_Missense_Mutation_p.A134T	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	134					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.A134S(2)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TAGCTTCGGGCGAGGTCCTGA	0.662		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			False	0	True	11:533503	0	T	533503	C	T	533503	3	4	88	1	0	0	0	0	1	0	0	0	7395	768	27	1	244	1	HRAS	11	533503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38518	533503	134473013	11175	18887											
PHRF1	57661	broad.mit.edu	37	chr11	587346	587346	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agccgctggctctttcaattCtgatgatgatgcagagagct	11	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:587346C>A	ENST00000264555.5	+	4	430	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	PHRF1_ENST00000416188.2_Missense_Mutation_p.S101Y|PHRF1_ENST00000413872.2_Missense_Mutation_p.S100Y|PHRF1_ENST00000533464.1_Missense_Mutation_p.S97Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	101							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTTTCAATTCTGATGATGAT	0.562													False	0	True	11:587346	0	A	587346	C	A	587346	3	1	88	1	0	0	0	0	1	0	0	0	11930	913	32	3	312	3	PHRF1	11	587346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53843	587346	134419170	11176	18888											
DEAF1	10522	broad.mit.edu	37	chr11	688045	688045	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggagccagaggggttggaGgagactgaggaccttgggca	20	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:688045G>T	ENST00000382409.3	-	4	1014	c.530C>A	c.(529-531)cCt>cAt	p.P177H	DEAF1_ENST00000338675.6_Missense_Mutation_p.P177H	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	177					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		AGGGGTTGGAGGAGACTGAGG	0.572													False	0	False	11:688045	0	T	688045	G	T	688045	3	4	88	1	0	0	0	0	1	0	0	0	4405	1000	35	3	1203	3	DEAF1	11	688045	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100699	688045	134318471	11177	18889											
EPS8L2	64787	broad.mit.edu	37	chr11	721660	721660	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgaaccagcggaaaaaGgggaagaagaagggcaagaa	15	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:721660G>A	ENST00000533256.1	+	11	1239	c.864G>A	c.(862-864)aaG>aaA	p.K288K	EPS8L2_ENST00000530636.1_Silent_p.K288K|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Silent_p.K288K|EPS8L2_ENST00000526198.1_Silent_p.K304K			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	288						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCGGAAAAAGGGGAAGAAGA	0.657													False	0	True	11:721660	0	A	721660	G	A	721660	2	1	88	1	0	0	0	0	0	0	0	1	5228	991	35	2		2	EPS8L2	11	721660	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33615	721660	134284856	11178	18890											
EPS8L2	64787	broad.mit.edu	37	chr11	722509	722509	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctggtccctaaggagatgTcgctgtgggagtcactggga	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:722509T>C	ENST00000533256.1	+	14	1543	c.1168T>C	c.(1168-1170)Tcg>Ccg	p.S390P	EPS8L2_ENST00000530636.1_Missense_Mutation_p.S390P|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S390P|EPS8L2_ENST00000526198.1_Missense_Mutation_p.S406P			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	390						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAAGGAGATGTCGCTGTGGGA	0.687													False	0	False	11:722509	0	C	722509	T	C	722509	3	2	88	1	0	0	0	0	1	0	0	0	5228	1667	58	4	1214	4	EPS8L2	11	722509	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	849	722509	134284007	11179	18891											
EPS8L2	64787	broad.mit.edu	37	chr11	725803	725803	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtacgtgccctgcaacatcCtaggcgaggcgcgaccggag	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:725803C>A	ENST00000533256.1	+	18	2011	c.1636C>A	c.(1636-1638)Cta>Ata	p.L546I	EPS8L2_ENST00000530636.1_Missense_Mutation_p.L546I|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.L546I|EPS8L2_ENST00000526198.1_Missense_Mutation_p.L562I			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	546	SH3.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCAACATCCTAGGCGAGGC	0.766													False	0	False	11:725803	0	A	725803	C	A	725803	3	1	88	1	0	0	0	0	1	0	0	0	5228	680	24	3	1698	3	EPS8L2	11	725803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3294	725803	134280713	11180	18892											
SLC25A22	79751	broad.mit.edu	37	chr11	792041	792041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggcgcccttcaggaaggcCgaggggccctcgtgccgcag	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:792041C>T	ENST00000320230.5	-	10	1327	c.846G>A	c.(844-846)tcG>tcA	p.S282S	SLC25A22_ENST00000531214.1_Silent_p.S282S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	282						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	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)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	TCAGGAAGGCCGAGGGGCCCT	0.697													False	0	False	11:792041	0	T	792041	C	T	792041	2	4	88	1	0	0	0	0	0	0	0	1	14565	639	23	1		1	SLC25A22	11	792041	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66238	792041	134214475	11181	18893											
RPLP2	6181	broad.mit.edu	37	chr11	812603	812603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgccccaggctctgcaGcccctgctgctggttctgcc	11	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:812603G>T	ENST00000321153.4	+	4	635	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	RPLP2_ENST00000530797.1_Missense_Mutation_p.A81S|RPLP2_ENST00000532004.1_3'UTR	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	81					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGCTCTGCAGCCCCTGCTGC	0.622													False	0	True	11:812603	0	T	812603	G	T	812603	3	4	88	1	0	0	0	0	1	0	0	0	13685	971	34	3	251	3	RPLP2	11	812603	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20562	812603	134193913	11182	18894											
CD151	977	broad.mit.edu	37	chr11	837331	837331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgaggctgtgaccagcGctgtggaccagctgcagcag	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:837331G>A	ENST00000397420.3	+	6	682	c.433G>A	c.(433-435)Gct>Act	p.A145T	CD151_ENST00000528011.1_Missense_Mutation_p.A145T|CD151_ENST00000397421.1_Missense_Mutation_p.A145T|CD151_ENST00000322008.4_Missense_Mutation_p.A145T			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	145					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGACCAGCGCTGTGGACCA	0.667													False	0	False	11:837331	0	A	837331	G	A	837331	3	1	88	1	0	0	0	0	1	0	0	0	2988	1087	38	1	447	1	CD151	11	837331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24728	837331	134169185	11183	18895											
TSPAN4	0	broad.mit.edu	37	chr11	862729	862729	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccatcaaggagaacaagtgCctcctgctcactgtgagtgc	11	12	2	2	rs144548229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:862729C>A	ENST00000397404.1	+	4	502	c.243C>A	c.(241-243)tgC>tgA	p.C81*	TSPAN4_ENST00000397396.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000525201.1_Nonsense_Mutation_p.C17*|TSPAN4_ENST00000409531.1_Nonsense_Mutation_p.C100*|TSPAN4_ENST00000409543.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397397.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397408.1_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397411.2_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000346501.4_Nonsense_Mutation_p.C81*|TSPAN4_ENST00000397406.1_Nonsense_Mutation_p.C81*	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	81					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAACAAGTGCCTCCTGCTCA	0.672													False	0	False	11:862729	0	A	862729	C	A	862729	4	1	88	1	0	0	0	0	0	1	0	0	16732	747	26	3	249	3	TSPAN4	11	862729	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25398	862729	134143787	11184	18896											
AP2A2	161	broad.mit.edu	37	chr11	1006544	1006544	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaggtcggatgtttatcttTtatggtaataagacctccac	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1006544T>G	ENST00000448903.2	+	17	2364	c.2223T>G	c.(2221-2223)ttT>ttG	p.F741L	AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.F742L	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	741					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTTTATCTTTTATGGTAATA	0.423													False	0	True	11:1006544	0	G	1006544	T	G	1006544	3	3	88	1	0	0	0	0	1	0	0	0	742	1838	64	4	2289	4	AP2A2	11	1006544	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	143815	1006544	133999972	11185	18897											
MUC6	4588	broad.mit.edu	37	chr11	1016172	1016172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatagtgtgggggagagtgGccctaatggtagtagaggca	18	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1016172G>A	ENST00000421673.2	-	31	6679	c.6629C>T	c.(6628-6630)gCc>gTc	p.A2210V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2210	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGAGAGTGGCCCTAATGGT	0.552													False	0	True	11:1016172	0	A	1016172	G	A	1016172	3	1	88	1	0	0	0	0	1	0	0	0	10047	1203	42	2	702	2	MUC6	11	1016172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9628	1016172	133990344	11186	18898											
MUC6	4588	broad.mit.edu	37	chr11	1016635	1016635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggctgtgtgggtggaccCtgtggccttgagcgttgttg	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1016635C>T	ENST00000421673.2	-	31	6216	c.6166G>A	c.(6166-6168)Ggg>Agg	p.G2056R		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2056	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGTGGACCCTGTGGCCTTG	0.562													False	0	True	11:1016635	0	T	1016635	C	T	1016635	3	4	88	1	0	0	0	0	1	0	0	0	10047	681	24	2	1165	2	MUC6	11	1016635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463	1016635	133989881	11187	18899											
MUC6	4588	broad.mit.edu	37	chr11	1025023	1025023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgccacgtacctgctgcGcgtctcgaagtcgtccttca	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1025023G>A	ENST00000421673.2	-	24	3096	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1016	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACCTGCTGCGCGTCTCGAAG	0.642													False	0	False	11:1025023	0	A	1025023	G	A	1025023	3	1	88	1	0	0	0	0	1	0	0	0	10047	1087	38	1	4313	1	MUC6	11	1025023	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8388	1025023	133981493	11188	18900											
MUC6	4588	broad.mit.edu	37	chr11	1028027	1028027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacaccgtgcctgtcctcaGcagcatggagcagtgggtct	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1028027G>T	ENST00000421673.2	-	15	1836	c.1786C>A	c.(1786-1788)Ctg>Atg	p.L596M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	596	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGTCCTCAGCAGCATGGAG	0.667													False	0	False	11:1028027	0	T	1028027	G	T	1028027	3	4	88	1	0	0	0	0	1	0	0	0	10047	962	34	3	5609	3	MUC6	11	1028027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3004	1028027	133978489	11189	18901											
MUC6	4588	broad.mit.edu	37	chr11	1028689	1028689	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaacagtgacataggcCtggaagatggggcgcagctg	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1028689C>A	ENST00000421673.2	-	13	1598	c.1548G>T	c.(1546-1548)caG>caT	p.Q516H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	516	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACATAGGCCTGGAAGATGG	0.627													False	0	False	11:1028689	0	A	1028689	C	A	1028689	3	1	88	1	0	0	0	0	1	0	0	0	10047	680	24	3	5855	3	MUC6	11	1028689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	662	1028689	133977827	11190	18902											
MUC6	4588	broad.mit.edu	37	chr11	1029525	1029525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcagctattgtgacctccCcgggggcatacatggcgccg	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1029525C>A	ENST00000421673.2	-	9	1156	c.1106G>T	c.(1105-1107)gGg>gTg	p.G369V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	369					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGACCTCCCCGGGGGCATA	0.667													False	0	True	11:1029525	0	A	1029525	C	A	1029525	3	1	88	1	0	0	0	0	1	0	0	0	10047	623	22	3	6313	3	MUC6	11	1029525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	836	1029525	133976991	11191	18903											
MUC2	4583	broad.mit.edu	37	chr11	1080508	1080508	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctggccgctgggtgtgcaaaGacctgccctgccccggcacc	13	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1080508G>T	ENST00000441003.2	+	9	1177	c.1150G>T	c.(1150-1152)Gac>Tac	p.D384Y	MUC2_ENST00000359061.5_Missense_Mutation_p.D384Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	384						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGTGCAAAGACCTGCCCTG	0.667													False	0	True	11:1080508	0	T	1080508	G	T	1080508	3	4	88	1	0	0	0	0	1	0	0	0	10042	942	33	3	1184	3	MUC2	11	1080508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50983	1080508	133926008	11192	18904											
MUC2	4583	broad.mit.edu	37	chr11	1086426	1086426	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacccgcaccgccgctcCtgggccgagaagcagtgcag	13	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1086426C>T	ENST00000441003.2	+	23	3162	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S	MUC2_ENST00000359061.5_Silent_p.S1045S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1045	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCGCCGCTCCTGGGCCGAGA	0.657													False	0	False	11:1086426	0	T	1086426	C	T	1086426	2	4	88	1	0	0	0	0	0	0	0	1	10042	668	24	2		2	MUC2	11	1086426	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5918	1086426	133920090	11193	18905											
MUC2	4583	broad.mit.edu	37	chr11	1092185	1092185	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcggggcccctgaggAcatcgagtgcaggtcggtca	17	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1092185A>G	ENST00000441003.2	+	30	4031	c.4004A>G	c.(4003-4005)gAc>gGc	p.D1335G	MUC2_ENST00000359061.5_Missense_Mutation_p.D1336G|MUC2_ENST00000361558.6_Missense_Mutation_p.D1G	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1335						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCCCTGAGGACATCGAGTGC	0.572													False	0	False	11:1092185	0	G	1092185	A	G	1092185	3	3	88	1	0	0	0	0	1	0	0	0	10042	275	10	4	4122	4	MUC2	11	1092185	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5759	1092185	133914331	11194	18906											
MUC2	4583	broad.mit.edu	37	chr11	1102483	1102483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactcatggaggcccccgggGagtgctgtaagaagtgtgaa	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1102483G>A	ENST00000441003.2	+	45	7894	c.7867G>A	c.(7867-7869)Gag>Aag	p.E2623K		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4985						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGCCCCCGGGGAGTGCTGTAA	0.607													False	0	True	11:1102483	0	A	1102483	G	A	1102483	3	1	88	1	0	0	0	0	1	0	0	0	10042	1175	41	2	8037	2	MUC2	11	1102483	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10298	1102483	133904033	11195	18907											
MUC2	4583	broad.mit.edu	37	chr11	1104196	1104196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagtgccaggacaccgTctgcgggctccccaccggca	12	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1104196T>C	ENST00000441003.2	+	49	8414	c.8387T>C	c.(8386-8388)gTc>gCc	p.V2796A		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5158						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGGACACCGTCTGCGGGCTC	0.701													False	0	False	11:1104196	0	C	1104196	T	C	1104196	3	2	88	1	0	0	0	0	1	0	0	0	10042	1667	58	4	8573	4	MUC2	11	1104196	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1713	1104196	133902320	11196	18908											
MUC5B	727897	broad.mit.edu	37	chr11	1251032	1251032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcaacaccacctgcagCtcctggtacttatgagccca	6	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1251032C>T	ENST00000447027.1	+	10	1282	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	MUC5B_ENST00000529681.1_Silent_p.S405S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	405					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCTGCAGCTCCTGGTACT	0.667													False	0	False	11:1251032	0	T	1251032	C	T	1251032	2	4	88	1	0	0	0	0	0	0	0	1	10046	796	28	2		2	MUC5B	11	1251032	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146836	1251032	133755484	11197	18909											
MUC5B	727897	broad.mit.edu	37	chr11	1251768	1251768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgagctgcggaagtgcGgcctgacggacaacgagaac	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1251768G>A	ENST00000447027.1	+	12	1475	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S	MUC5B_ENST00000529681.1_Missense_Mutation_p.G470S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	470	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCGGAAGTGCGGCCTGACGGA	0.657													False	0	False	11:1251768	0	A	1251768	G	A	1251768	3	1	88	1	0	0	0	0	1	0	0	0	10046	1116	39	1	1463	1	MUC5B	11	1251768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	736	1251768	133754748	11198	18910											
MUC5B	727897	broad.mit.edu	37	chr11	1252652	1252652	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccccacactcccggcaGccaacatcaccctgttcaca	4	21	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1252652G>A	ENST00000447027.1	+	14	1607		c.e14-1		MUC5B_ENST00000529681.1_Splice_Site			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCGGCAGCCAACATCAC	0.647													False	0	False	11:1252652	0	A	1252652	G	A	1252652	5	1	88	1	0	0	0	0	0	0	1	0	10046	985	34	2	1603	2	MUC5B	11	1252652	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	884	1252652	133753864	11199	18911											
MUC5B	727897	broad.mit.edu	37	chr11	1254494	1254494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcacgacgagggcgccGtgtggtaagggtctgggggg	22	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1254494G>A	ENST00000447027.1	+	18	2384	c.2326G>A	c.(2326-2328)Gtg>Atg	p.V776M	MUC5B_ENST00000529681.1_Missense_Mutation_p.V773M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	773					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGAGGGCGCCGTGTGGTAAGG	0.697													False	0	False	11:1254494	0	A	1254494	G	A	1254494	3	1	88	1	0	0	0	0	1	0	0	0	10046	1145	40	1	2396	1	MUC5B	11	1254494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1842	1254494	133752022	11200	18912											
MUC5B	727897	broad.mit.edu	37	chr11	1255461	1255461	+	Missense_Mutation	SNP	G	G	A													cagcccccatggtgtacctgGactgcagcaacagctcggcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1255461G>A	ENST00000447027.1	+	20	2471	c.2413G>A	c.(2413-2415)Gac>Aac	p.D805N	MUC5B_ENST00000529681.1_Missense_Mutation_p.D802N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	802	TIL 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTGTACCTGGACTGCAGCAA	0.687													False	0	False	11:1255461	0	A	1255461	G	A	1255461	3	1	88	1	0	0	0	0	1	0	0	0	10046	1174	41	2	2491	2	MUC5B	11	1255461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	967	1255461	133751055	11201	18913	217	2									
MUC5B	727897	broad.mit.edu	37	chr11	1255465	1255465	+	Missense_Mutation	SNP	G	G	T													ccccatggtgtacctggactGcagcaacagctcggcgggca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1255465G>T	ENST00000447027.1	+	20	2475	c.2417G>T	c.(2416-2418)tGc>tTc	p.C806F	MUC5B_ENST00000529681.1_Missense_Mutation_p.C803F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	803	TIL 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TACCTGGACTGCAGCAACAGC	0.692													False	0	False	11:1255465	0	T	1255465	G	T	1255465	3	4	88	1	0	0	0	0	1	0	0	0	10046	1319	46	3	2495	3	MUC5B	11	1255465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4	1255465	133751051	11202	18914	217	2									
MUC5B	727897	broad.mit.edu	37	chr11	1258188	1258188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgtgcgggaacttcgacGacaatgccatcaatgacttt	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1258188G>A	ENST00000447027.1	+	25	3158	c.3100G>A	c.(3100-3102)Gac>Aac	p.D1034N	MUC5B_ENST00000529681.1_Missense_Mutation_p.D1031N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1031	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAACTTCGACGACAATGCCAT	0.672													False	0	False	11:1258188	0	A	1258188	G	A	1258188	3	1	88	1	0	0	0	0	1	0	0	0	10046	1058	37	1	3198	1	MUC5B	11	1258188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2723	1258188	133748328	11203	18915											
MUC5B	727897	broad.mit.edu	37	chr11	1262147	1262147	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtccagctggtacaatgGgcaccgcccagagcccggcc	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1262147G>T	ENST00000447027.1	+	31	4104	c.4046G>T	c.(4045-4047)gGg>gTg	p.G1349V	MUC5B_ENST00000529681.1_Missense_Mutation_p.G1346V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1346	7 X Cys-rich subdomain repeats.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGTACAATGGGCACCGCCCA	0.652													False	0	True	11:1262147	0	T	1262147	G	T	1262147	3	4	88	1	0	0	0	0	1	0	0	0	10046	1232	43	3	4168	3	MUC5B	11	1262147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3959	1262147	133744369	11204	18916											
MUC5B	727897	broad.mit.edu	37	chr11	1263600	1263600	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaaagagcatagagtgCcgggcggagaactaccccga	13	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1263600C>A	ENST00000447027.1	+	31	5557	c.5499C>A	c.(5497-5499)tgC>tgA	p.C1833*	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Nonsense_Mutation_p.C1830*			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1830	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCATAGAGTGCCGGGCGGAGA	0.597													False	0	False	11:1263600	0	A	1263600	C	A	1263600	4	1	88	1	0	0	0	0	0	1	0	0	10046	747	26	3	5621	3	MUC5B	11	1263600	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1453	1263600	133742916	11205	18917											
MUC5B	727897	broad.mit.edu	37	chr11	1264986	1264986	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacacccagcaagacccgCacctcgaccctgctgcccag	8	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1264986C>A	ENST00000447027.1	+	31	6943	c.6885C>A	c.(6883-6885)cgC>cgA	p.R2295R	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.R2292R			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2292	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAAGACCCGCACCTCGACCC	0.682													False	0	False	11:1264986	0	A	1264986	C	A	1264986	2	1	88	1	0	0	0	0	0	0	0	1	10046	697	25	3		3	MUC5B	11	1264986	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1386	1264986	133741530	11206	18918											
MUC5B	727897	broad.mit.edu	37	chr11	1266175	1266175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccagtggtactcccccaTcactgaccaccacggccact	7	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1266175T>C	ENST00000447027.1	+	31	8132	c.8074T>C	c.(8074-8076)Tca>Cca	p.S2692P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.S2689P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2689	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TACTcccccatcactgaccac	0.617													False	0	False	11:1266175	0	C	1266175	T	C	1266175	3	2	88	1	0	0	0	0	1	0	0	0	10046	1435	50	4	8196	4	MUC5B	11	1266175	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1189	1266175	133740341	11207	18919											
MUC5B	727897	broad.mit.edu	37	chr11	1267146	1267146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggatccacggccatcccGtcctccaccccgggaacagc	9	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1267146G>A	ENST00000447027.1	+	31	9103	c.9045G>A	c.(9043-9045)ccG>ccA	p.P3015P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3012P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3012	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCATCCCGTCCTCCACCC	0.642													False	0	True	11:1267146	0	A	1267146	G	A	1267146	2	1	88	1	0	0	0	0	0	0	0	1	10046	1132	40	1		1	MUC5B	11	1267146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	971	1267146	133739370	11208	18920											
MUC5B	727897	broad.mit.edu	37	chr11	1270821	1270821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccggccaccagctctacGgccatgccctcctccactcc	6	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1270821G>A	ENST00000447027.1	+	31	12778	c.12720G>A	c.(12718-12720)acG>acA	p.T4240T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T4237T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4237	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCTCTACGGCCATGCCCT	0.607													False	0	False	11:1270821	0	A	1270821	G	A	1270821	2	1	88	1	0	0	0	0	0	0	0	1	10046	1103	39	1		1	MUC5B	11	1270821	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3675	1270821	133735695	11209	18921											
MUC5B	727897	broad.mit.edu	37	chr11	1272392	1272392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccaccctgtggaccaCgtggaccgtcccagcacaga	9	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1272392C>T	ENST00000447027.1	+	31	14349	c.14291C>T	c.(14290-14292)aCg>aTg	p.T4764M	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4761M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4761	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T4716M(1)|p.T4761M(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGTGGACCACGTGGACCGTC	0.582													False	0	False	11:1272392	0	T	1272392	C	T	1272392	3	4	88	1	0	0	0	0	1	0	0	0	10046	536	19	1	14413	1	MUC5B	11	1272392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1571	1272392	133734124	11210	18922											
MUC5B	727897	broad.mit.edu	37	chr11	1275968	1275968	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcggtttcagcaagaaCggcgtgcttgtgtctgtgct	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1275968C>T	ENST00000447027.1	+	35	15589	c.15531C>T	c.(15529-15531)aaC>aaT	p.N5177N	MUC5B_ENST00000529681.1_Silent_p.N5174N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5174	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCAGCAAGAACGGCGTGCTTG	0.622													False	0	False	11:1275968	0	T	1275968	C	T	1275968	2	4	88	1	0	0	0	0	0	0	0	1	10046	535	19	1		1	MUC5B	11	1275968	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3576	1275968	133730548	11211	18923											
MUC5B	727897	broad.mit.edu	37	chr11	1279584	1279584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgtgttcgtacaatgGcaccttctacggggtaaggg	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1279584G>T	ENST00000447027.1	+	43	16647	c.16589G>T	c.(16588-16590)gGc>gTc	p.G5530V	MUC5B_ENST00000529681.1_Missense_Mutation_p.G5527V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5527	VWFC 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCGTACAATGGCACCTTCTAC	0.627													False	0	False	11:1279584	0	T	1279584	G	T	1279584	3	4	88	1	0	0	0	0	1	0	0	0	10046	1203	42	3	16759	3	MUC5B	11	1279584	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3616	1279584	133726932	11212	18924											
MOB2	81532	broad.mit.edu	37	chr11	1491566	1491566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaactcccgagcaaagaGgatgaagtggacgtagagcg	15	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1491566G>A	ENST00000329957.6	-	5	832	c.643C>T	c.(643-645)Ctc>Ttc	p.L215F	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	184						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						CGAGCAAAGAGGATGAAGTGG	0.617													False	0	False	11:1491566	0	A	1491566	G	A	1491566	3	1	88	1	0	0	0	0	1	0	0	0	9748	1000	35	2	167	2	MOB2	11	1491566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	211982	1491566	133514950	11213	18925											
MOB2	81532	broad.mit.edu	37	chr11	1492597	1492597	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgacgaagtcaacgtactGtggggccgtgcacttgacct	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1492597G>A	ENST00000329957.6	-	4	607	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	109						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						TCAACGTACTGTGGGGCCGTG	0.597													False	0	False	11:1492597	0	A	1492597	G	A	1492597	4	1	88	1	0	0	0	0	0	1	0	0	9748	1386	48	2	396	2	MOB2	11	1492597	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1031	1492597	133513919	11214	18926											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606276	1606276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccccagaagagccacaGccccctttgccacagctgga	10	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1606276G>A	ENST00000382171.2	-	1	237	c.204C>T	c.(202-204)ggC>ggT	p.G68G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	68	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGAGCCACAGCCCCCTTTGC	0.662													False	0	True	11:1606276	0	A	1606276	G	A	1606276	2	1	88	1	0	0	0	0	0	0	0	1	8609	958	34	2		2	KRTAP5-1	11	1606276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113679	1606276	133400240	11215	18927											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629124	1629124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctggactgggaacaGcagggcttacagcagctgga	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1629124G>A	ENST00000399685.1	-	1	569	c.492C>T	c.(490-492)tgC>tgT	p.C164C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	164	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		actgggaacagcagGGCTTAC	0.622													False	0	False	11:1629124	0	A	1629124	G	A	1629124	2	1	88	1	0	0	0	0	0	0	0	1	8613	963	34	2		2	KRTAP5-3	11	1629124	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22848	1629124	133377392	11216	18928											
KRTAP5-6	440023	broad.mit.edu	37	chr11	1718508	1718508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctctggaggctgtggCtccggctgtgggggctgtgg	21	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1718508C>T	ENST00000382160.1	+	1	84	c.33C>T	c.(31-33)ggC>ggT	p.G11G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	11						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAGGCTGTGGCTCCGGCTGTG	0.647													False	0	False	11:1718508	0	T	1718508	C	T	1718508	2	4	88	1	0	0	0	0	0	0	0	1	8616	784	28	2		2	KRTAP5-6	11	1718508	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89384	1718508	133288008	11217	18929											
KRTAP5-6	440023	broad.mit.edu	37	chr11	1718682	1718682	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggggctccaaagggggCtgtggctcttgtgggggctc	20	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1718682C>A	ENST00000382160.1	+	1	258	c.207C>A	c.(205-207)ggC>ggA	p.G69G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	69	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCAAAGGGGGCTGTGGCTCTT	0.637													False	0	True	11:1718682	0	A	1718682	C	A	1718682	2	1	88	1	0	0	0	0	0	0	0	1	8616	784	28	3		3	KRTAP5-6	11	1718682	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174	1718682	133287834	11218	18930											
CTSD	1509	broad.mit.edu	37	chr11	1778668	1778668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaggccatgcccaggatgCcatcgaacttggctgcgatg	14	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1778668C>T	ENST00000236671.2	-	5	722	c.590G>A	c.(589-591)gGc>gAc	p.G197D	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.A68T	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	197					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCCAGGATGCCATCGAACTT	0.602													False	0	False	11:1778668	0	T	1778668	C	T	1778668	3	4	88	1	0	0	0	0	1	0	0	0	4057	739	26	2	668	2	CTSD	11	1778668	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59986	1778668	133227848	11219	18931											
SYT8	90019	broad.mit.edu	37	chr11	1856331	1856331	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttccaaaccagcagggtaGaaagatggggcacccaccag	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1856331G>A	ENST00000535046.1	+	2	452	c.452G>A	c.(451-453)aGa>aAa	p.R151K	SYT8_ENST00000341958.3_5'UTR|SYT8_ENST00000436964.2_5'UTR|SYT8_ENST00000381968.3_Missense_Mutation_p.R13K			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	13	C2 1.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCAGGGTAGAAAGATGGGG	0.662													False	0	True	11:1856331	0	A	1856331	G	A	1856331	3	1	88	1	0	0	0	0	1	0	0	0	15562	942	33	2	44	2	SYT8	11	1856331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77663	1856331	133150185	11220	18932											
SYT8	90019	broad.mit.edu	37	chr11	1858551	1858551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagacatgctggcccacGcccggcggcccattgcccag	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1858551G>A	ENST00000341958.3	+	8	1356	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000381968.3_Missense_Mutation_p.A366T			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	366						acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGGCCCACGCCCGGCGGCC	0.756													False	0	True	11:1858551	0	A	1858551	G	A	1858551	3	1	88	1	0	0	0	0	1	0	0	0	15562	1087	38	1	1130	1	SYT8	11	1858551	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2220	1858551	133147965	11221	18933											
TNNI2	7136	broad.mit.edu	37	chr11	1862070	1862070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctgcaaacagctgcacGccaagatcgatgcggctgaa	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1862070G>A	ENST00000381906.1	+	6	277	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	TNNI2_ENST00000381911.1_Missense_Mutation_p.A70T|TNNI2_ENST00000381905.3_Missense_Mutation_p.A70T|TNNI2_ENST00000252898.7_Missense_Mutation_p.A70T	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	70					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAGCTGCACGCCAAGATCGA	0.677													False	0	False	11:1862070	0	A	1862070	G	A	1862070	3	1	88	1	0	0	0	0	1	0	0	0	16409	1087	38	1	241	1	TNNI2	11	1862070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3519	1862070	133144446	11222	18934											
TNNI2	7136	broad.mit.edu	37	chr11	1862727	1862727	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgactggaggaagaacatCgaggagaagtctggcatgga	17	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1862727C>T	ENST00000381906.1	+	8	564	c.495C>T	c.(493-495)atC>atT	p.I165I	TNNI2_ENST00000381911.1_Silent_p.I165I|TNNI2_ENST00000381905.3_Silent_p.I165I|TNNI2_ENST00000252898.7_Silent_p.I165I	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	165					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAAGAACATCGAGGAGAAGT	0.642													False	0	False	11:1862727	0	T	1862727	C	T	1862727	2	4	88	1	0	0	0	0	0	0	0	1	16409	874	31	1		1	TNNI2	11	1862727	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	657	1862727	133143789	11223	18935											
LSP1	4046	broad.mit.edu	37	chr11	1901374	1901374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgtccacgagcaatgccaGcatgagagagacaggcagct	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1901374G>T	ENST00000381775.1	+	3	603	c.495G>T	c.(493-495)caG>caT	p.Q165H	LSP1_ENST00000406638.2_5'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.Q37H|LSP1_ENST00000405957.2_5'UTR	NM_001242932.1	NP_001229861.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	37					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGCAATGCCAGCATGAGAGAG	0.657													False	0	False	11:1901374	0	T	1901374	G	T	1901374	3	4	88	1	0	0	0	0	1	0	0	0	9125	962	34	3	117	3	LSP1	11	1901374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38647	1901374	133105142	11224	18936											
LSP1	4046	broad.mit.edu	37	chr11	1904667	1904667	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcccggcctgcatgcctaCgaaaaggaggacagtgatga	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1904667C>T	ENST00000406638.2	+	4	1491	c.189C>T	c.(187-189)taC>taT	p.Y63Y	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000311604.3_Silent_p.Y125Y|LSP1_ENST00000381775.1_Silent_p.Y253Y|LSP1_ENST00000405957.2_Silent_p.Y63Y	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	125					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.Y63Y(1)|p.Y125Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGCATGCCTACGAAAAGGAGG	0.587													False	0	False	11:1904667	0	T	1904667	C	T	1904667	2	4	88	1	0	0	0	0	0	0	0	1	9125	547	19	1		1	LSP1	11	1904667	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3293	1904667	133101849	11225	18937											
TNNT3	7140	broad.mit.edu	37	chr11	1955621	1955621	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggcagaggacgacctgaaGaagaagaaagctctgtcttc	13	8	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1955621G>T	ENST00000381558.1	+	11	681	c.402G>T	c.(400-402)aaG>aaT	p.K134N	TNNT3_ENST00000381561.4_Missense_Mutation_p.K145N|TNNT3_ENST00000381548.3_Missense_Mutation_p.K144N|TNNT3_ENST00000397304.2_Missense_Mutation_p.K123N|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381579.3_Missense_Mutation_p.K134N|TNNT3_ENST00000397301.1_Missense_Mutation_p.K153N|TNNT3_ENST00000278317.6_Missense_Mutation_p.K142N|TNNT3_ENST00000381549.3_Missense_Mutation_p.K134N|TNNT3_ENST00000381589.3_Missense_Mutation_p.K140N|TNNT3_ENST00000446240.1_Missense_Mutation_p.K123N|TNNT3_ENST00000360603.3_Missense_Mutation_p.K136N			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	153					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		ACGACCTGAAGAAGAAGAAAG	0.582													False	0	True	11:1955621	0	T	1955621	G	T	1955621	3	4	88	1	0	0	0	0	1	0	0	0	16414	933	33	3	509	3	TNNT3	11	1955621	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50954	1955621	133050895	11226	18938											
MRPL23	6150	broad.mit.edu	37	chr11	1974067	1974067	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcaagaagccggactacaaGgtcgcctacgtgcagctggt	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1974067G>T	ENST00000381514.3	+	4	301	c.279G>T	c.(277-279)aaG>aaT	p.K93N	MRPL23_ENST00000381519.1_Missense_Mutation_p.K93N|MRPL23_ENST00000397297.3_Missense_Mutation_p.K93N|MRPL23_ENST00000397298.3_Missense_Mutation_p.K93N|MRPL23_ENST00000397294.3_Missense_Mutation_p.K93N			Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	93					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGGACTACAAGGTCGCCTACG	0.542											OREG0020673	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:1974067	0	T	1974067	G	T	1974067	3	4	88	1	0	0	0	0	1	0	0	0	9856	991	35	3	293	3	MRPL23	11	1974067	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18446	1974067	133032449	11227	18939											
TH	7054	broad.mit.edu	37	chr11	2186913	2186913	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccaggagctccccgtaGgaggacagcagcccggcacc	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2186913G>T	ENST00000381178.1	-	12	1296	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	TH_ENST00000352909.3_Silent_p.S395S|TH_ENST00000333684.5_Silent_p.S305S|TH_ENST00000381175.1_Silent_p.S422S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	426					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCTCCCCGTAGGAGGACAGCA	0.677													False	0	False	11:2186913	0	T	2186913	G	T	2186913	2	4	88	1	0	0	0	0	0	0	0	1	15920	987	35	3		3	TH	11	2186913	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212846	2186913	132819603	11228	18940											
TH	7054	broad.mit.edu	37	chr11	2189762	2189762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtcctctgacacctggCgcacaccactgagcagggcg	12	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2189762C>T	ENST00000381178.1	-	4	557	c.539G>A	c.(538-540)cGc>cAc	p.R180H	TH_ENST00000352909.3_Missense_Mutation_p.R149H|TH_ENST00000333684.5_Missense_Mutation_p.R153H|TH_ENST00000381175.1_Missense_Mutation_p.R176H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	180					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TGACACCTGGCGCACACCACT	0.711													False	0	False	11:2189762	0	T	2189762	C	T	2189762	3	4	88	1	0	0	0	0	1	0	0	0	15920	768	27	1	1091	1	TH	11	2189762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2849	2189762	132816754	11229	18941											
TH	7054	broad.mit.edu	37	chr11	2189854	2189854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccagctcgcggcctctgGgcgggccgggtctctagatg	15	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2189854G>A	ENST00000381178.1	-	4	465	c.447C>T	c.(445-447)gcC>gcT	p.A149A	TH_ENST00000352909.3_Silent_p.A118A|TH_ENST00000333684.5_Silent_p.A122A|TH_ENST00000381175.1_Silent_p.A145A	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	149					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCGGCCTCTGGGCGGGCCGGG	0.622													False	0	True	11:2189854	0	A	2189854	G	A	2189854	2	1	88	1	0	0	0	0	0	0	0	1	15920	1219	43	2		2	TH	11	2189854	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92	2189854	132816662	11230	18942											
CD81	975	broad.mit.edu	37	chr11	2415352	2415352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcctcatcgctgtgggcgCtgtcatgatgttcgttggct	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2415352C>A	ENST00000263645.5	+	3	465	c.209C>A	c.(208-210)gCt>gAt	p.A70D	CD81_ENST00000492627.1_5'UTR|CD81_ENST00000481687.1_Missense_Mutation_p.A76D|CD81_ENST00000526072.1_5'UTR|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A108D	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	70					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTGTGGGCGCTGTCATGATG	0.652													False	0	False	11:2415352	0	A	2415352	C	A	2415352	3	1	88	1	0	0	0	0	1	0	0	0	3062	797	28	3	219	3	CD81	11	2415352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225498	2415352	132591164	11231	18943											
TRPM5	29850	broad.mit.edu	37	chr11	2432869	2432869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccgggggctcaccatgCgctctaccacgatgatcttg	11	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2432869C>T	ENST00000452833.1	-	17	2617	c.2609G>A	c.(2608-2610)cGc>cAc	p.R870H	TRPM5_ENST00000533060.1_Missense_Mutation_p.R868H|TRPM5_ENST00000155858.6_Missense_Mutation_p.R868H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R868H			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	868						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTCACCATGCGCTCTACCAC	0.662													False	0	False	11:2432869	0	T	2432869	C	T	2432869	3	4	88	1	0	0	0	0	1	0	0	0	16672	768	27	1	926	1	TRPM5	11	2432869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17517	2432869	132573647	11232	18944											
TRPM5	29850	broad.mit.edu	37	chr11	2436266	2436266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccgtgggccgcttggcCgggcccttctcctggaggac	16	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2436266C>T	ENST00000452833.1	-	10	1505	c.1497G>A	c.(1495-1497)ccG>ccA	p.P499P	TRPM5_ENST00000533060.1_Silent_p.P497P|TRPM5_ENST00000155858.6_Silent_p.P497P|TRPM5_ENST00000528453.1_Silent_p.P497P			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	497						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCGCTTGGCCGGGCCCTTCT	0.726													False	0	True	11:2436266	0	T	2436266	C	T	2436266	2	4	88	1	0	0	0	0	0	0	0	1	16672	639	23	1		1	TRPM5	11	2436266	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3397	2436266	132570250	11233	18945											
KCNQ1	3784	broad.mit.edu	37	chr11	2606516	2606516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttcaaccggcagatcccGgcggcagcctcactcattca	8	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2606516G>A	ENST00000155840.5	+	8	1215	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	KCNQ1_ENST00000335475.5_Silent_p.P242P	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	369					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGCAGATCCCGGCGGCAGCCT	0.592													False	0	True	11:2606516	0	A	2606516	G	A	2606516	2	1	88	1	0	0	0	0	0	0	0	1	8132	1103	39	1		1	KCNQ1	11	2606516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170250	2606516	132400000	11234	18946											
CARS	833	broad.mit.edu	37	chr11	3059334	3059334	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggactgcacagctttctcAagtggctctgtggcaagctg	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3059334A>G	ENST00000397114.3	-	7	844	c.468T>C	c.(466-468)ctT>ctC	p.L156L	CARS_ENST00000278224.9_Silent_p.L166L|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397111.5_Silent_p.L166L|CARS_ENST00000401769.3_Silent_p.L179L|CARS_ENST00000380525.4_Silent_p.L249L			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	166					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CAGCTTTCTCAAGTGGCTCTG	0.517			T	ALK	ALCL						OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:3059334	0	G	3059334	A	G	3059334	2	3	88	1	0	0	0	0	0	0	0	1	2677	117	5	4		4	CARS	11	3059334	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	452818	3059334	131947182	11235	18947											
OSBPL5	114879	broad.mit.edu	37	chr11	3128610	3128610	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctatggtcctgggtctcGgtatctgactcctcagggtt	13	11	3	1	rs144743928		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3128610G>A	ENST00000263650.7	-	9	1101	c.942C>T	c.(940-942)acC>acT	p.T314T	OSBPL5_ENST00000348039.5_Silent_p.T246T|OSBPL5_ENST00000525498.1_Silent_p.T225T|OSBPL5_ENST00000389989.3_Silent_p.T246T|OSBPL5_ENST00000542243.1_Intron	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	314					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTGGGTCTCGGTATCTGACT	0.612													False	0	False	11:3128610	0	A	3128610	G	A	3128610	2	1	88	1	0	0	0	0	0	0	0	1	11348	1103	39	1		1	OSBPL5	11	3128610	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69276	3128610	131877906	11236	18948											
MRGPRE	116534	broad.mit.edu	37	chr11	3249343	3249343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagatgccgaagggcaggccGcagaagaggaagaggaggac	18	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3249343G>A	ENST00000389832.5	-	2	993	c.687C>T	c.(685-687)tgC>tgT	p.C229C	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.C228C			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	228						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGCAGGCCGCAGAAGAGGA	0.662													False	0	False	11:3249343	0	A	3249343	G	A	3249343	2	1	88	1	0	0	0	0	0	0	0	1	9831	1079	38	1		1	MRGPRE	11	3249343	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120733	3249343	131757173	11237	18949											
MRGPRE	116534	broad.mit.edu	37	chr11	3249838	3249838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagatccgcgcaggccacGtccaggaggtagatggcgaa	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3249838G>A	ENST00000389832.5	-	2	498	c.192C>T	c.(190-192)gaC>gaT	p.D64D	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.D63D			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	63						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGCAGGCCACGTCCAGGAGGT	0.647													False	0	False	11:3249838	0	A	3249838	G	A	3249838	2	1	88	1	0	0	0	0	0	0	0	1	9831	1136	40	1		1	MRGPRE	11	3249838	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	495	3249838	131756678	11238	18950											
ZNF195	0	broad.mit.edu	37	chr11	3380642	3380642	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaataaggttggaggactgGgtaaagttttttccacattc	10	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3380642G>A	ENST00000354599.6	-	4	1484	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Silent_p.T464T|ZNF195_ENST00000343338.7_Silent_p.T464T|ZNF195_ENST00000005082.9_Silent_p.T509T|ZNF195_ENST00000526601.1_Silent_p.T513T|ZNF195_ENST00000399602.4_Silent_p.T532T	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGAGGACTGGGTAAAGTTTT	0.408													False	0	True	11:3380642	0	A	3380642	G	A	3380642	2	1	88	1	0	0	0	0	0	0	0	1	17841	1219	43	2		2	ZNF195	11	3380642	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130804	3380642	131625874	11239	18951											
ZNF195	0	broad.mit.edu	37	chr11	3381120	3381120	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagcaagaatcatcTgttgattagaaaggcttgag	9	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3381120T>G	ENST00000354599.6	-	4	1006	c.902A>C	c.(901-903)cAg>cCg	p.Q301P	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.Q305P|ZNF195_ENST00000343338.7_Missense_Mutation_p.Q305P|ZNF195_ENST00000005082.9_Missense_Mutation_p.Q350P|ZNF195_ENST00000526601.1_Missense_Mutation_p.Q354P|ZNF195_ENST00000399602.4_Missense_Mutation_p.Q373P	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGAATCATCTGTTGATTAGA	0.423													False	0	False	11:3381120	0	G	3381120	T	G	3381120	3	3	88	1	0	0	0	0	1	0	0	0	17841	1580	55	4	775	4	ZNF195	11	3381120	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	478	3381120	131625396	11240	18952											
ZNF195	0	broad.mit.edu	37	chr11	3381489	3381489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcatttgaaaggatttgCcacattcttgacatttgaaa	8	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3381489C>T	ENST00000354599.6	-	4	637	c.533G>A	c.(532-534)gGc>gAc	p.G178D	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.G182D|ZNF195_ENST00000343338.7_Missense_Mutation_p.G182D|ZNF195_ENST00000005082.9_Missense_Mutation_p.G227D|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000526601.1_Missense_Mutation_p.G231D|ZNF195_ENST00000399602.4_Missense_Mutation_p.G250D	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	250	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAAGGATTTGCCACATTCTTG	0.299													False	0	False	11:3381489	0	T	3381489	C	T	3381489	3	4	88	1	0	0	0	0	1	0	0	0	17841	739	26	2	1144	2	ZNF195	11	3381489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	369	3381489	131625027	11241	18953											
CHRNA10	57053	broad.mit.edu	37	chr11	3688612	3688612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcaagcagcgagatgaGcacgcagggcagcagcaggt	17	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3688612G>A	ENST00000250699.2	-	4	816	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	CHRNA10_ENST00000534359.1_Silent_p.C66C	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	249					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	AGCGAGATGAGCACGCAGGGC	0.697													False	0	False	11:3688612	0	A	3688612	G	A	3688612	3	1	88	1	0	0	0	0	1	0	0	0	3405	971	34	2	615	2	CHRNA10	11	3688612	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	307123	3688612	131317904	11242	18954											
CHRNA10	57053	broad.mit.edu	37	chr11	3688708	3688708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagggctcggagcagcagcCgtaggtgagcacgcgccgcc	17	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3688708C>T	ENST00000250699.2	-	4	720	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	CHRNA10_ENST00000534359.1_Silent_p.T34T	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	217					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GAGCAGCAGCCGTAGGTGAGC	0.731													False	0	True	11:3688708	0	T	3688708	C	T	3688708	3	4	88	1	0	0	0	0	1	0	0	0	3405	652	23	1	711	1	CHRNA10	11	3688708	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96	3688708	131317808	11243	18955											
NUP98	4928	broad.mit.edu	37	chr11	3697446	3697446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtaaggctgcgcagttcGtccatggcatagtcctcagg	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3697446G>A	ENST00000324932.7	-	33	5766	c.5346C>T	c.(5344-5346)gaC>gaT	p.D1782D	NUP98_ENST00000355260.3_Silent_p.D1708D|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1799					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGCGCAGTTCGTCCATGGCAT	0.582			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								False	0	False	11:3697446	0	A	3697446	G	A	3697446	2	1	88	1	0	0	0	0	0	0	0	1	10841	1136	40	1		1	NUP98	11	3697446	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8738	3697446	131309070	11244	18956											
NUP98	4928	broad.mit.edu	37	chr11	3793016	3793016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctgaccatatgcaaagCctgaattagtggtggaggag	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3793016C>T	ENST00000324932.7	-	7	1166	c.746G>A	c.(745-747)gGc>gAc	p.G249D	NUP98_ENST00000397007.4_Missense_Mutation_p.G249D|NUP98_ENST00000397004.4_Missense_Mutation_p.G249D|NUP98_ENST00000355260.3_Missense_Mutation_p.G249D|NUP98_ENST00000359171.4_Missense_Mutation_p.G249D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	249	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATATGCAAAGCCTGAATTAGT	0.448			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								False	0	False	11:3793016	0	T	3793016	C	T	3793016	3	4	88	1	0	0	0	0	1	0	0	0	10841	739	26	2	4836	2	NUP98	11	3793016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95570	3793016	131213500	11245	18957											
NUP98	4928	broad.mit.edu	37	chr11	3800140	3800140	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattttgtgcaaaggcattGttttgggatgagaagagact	12	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3800140G>A	ENST00000324932.7	-	4	738	c.318C>T	c.(316-318)aaC>aaT	p.N106N	NUP98_ENST00000397007.4_Silent_p.N106N|NUP98_ENST00000397004.4_Silent_p.N106N|NUP98_ENST00000355260.3_Silent_p.N106N|NUP98_ENST00000359171.4_Silent_p.N106N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	106	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAAAGGCATTGTTTTGGGATG	0.443			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								False	0	True	11:3800140	0	A	3800140	G	A	3800140	2	1	88	1	0	0	0	0	0	0	0	1	10841	1368	48	2		2	NUP98	11	3800140	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7124	3800140	131206376	11246	18958											
STIM1	6786	broad.mit.edu	37	chr11	4104554	4104554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcaccgctggcaacagatcGagatcctctgtggcttccag	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4104554G>A	ENST00000300737.4	+	10	1869	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	STIM1_ENST00000527651.1_Missense_Mutation_p.E434K|STIM1_ENST00000533977.1_Missense_Mutation_p.E261K	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	434					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GCAACAGATCGAGATCCTCTG	0.582													False	0	False	11:4104554	0	A	4104554	G	A	4104554	3	1	88	1	0	0	0	0	1	0	0	0	15365	1059	37	1	1338	1	STIM1	11	4104554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	304414	4104554	130901962	11247	18959											
RRM1	6240	broad.mit.edu	37	chr11	4128754	4128754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacattggatattgttctgGccaataaagatgtatgtata	8	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4128754G>A	ENST00000300738.5	+	4	580	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	RRM1_ENST00000423050.2_Missense_Mutation_p.A29T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	126					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TATTGTTCTGGCCAATAAAGA	0.323													False	0	False	11:4128754	0	A	4128754	G	A	4128754	3	1	88	1	0	0	0	0	1	0	0	0	13760	1203	42	2	390	2	RRM1	11	4128754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24200	4128754	130877762	11248	18960											
OR52B4	143496	broad.mit.edu	37	chr11	4389036	4389036	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaagtcaatctttttaaaaGaaatatgatagggaaaattg	8	2	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4389036G>T	ENST00000408920.2	-	1	580	c.490C>A	c.(490-492)Ctt>Att	p.L164I		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTTTAAAAGAAATATGATA	0.353													False	0	True	11:4389036	0	T	4389036	G	T	4389036	3	4	88	1	0	0	0	0	1	0	0	0	11180	942	33	3	458	3	OR52B4	11	4389036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260282	4389036	130617480	11249	18961											
OR52I2	143502	broad.mit.edu	37	chr11	4608230	4608230	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggctatctcactgagtgCcatgtacatcatagccctgt	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4608230C>A	ENST00000312614.4	+	1	210	c.188C>A	c.(187-189)gCc>gAc	p.A63D		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCACTGAGTGCCATGTACATC	0.493													False	0	False	11:4608230	0	A	4608230	C	A	4608230	3	1	88	1	0	0	0	0	1	0	0	0	11189	739	26	3	190	3	OR52I2	11	4608230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219194	4608230	130398286	11250	18962											
OR52I2	143502	broad.mit.edu	37	chr11	4608988	4608988	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctgtacgtgatcatcccaGccaccttaaatcccatcatc	4	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4608988G>T	ENST00000312614.4	+	1	968	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATCATCCCAGCCACCTTAAA	0.522													False	0	False	11:4608988	0	T	4608988	G	T	4608988	3	4	88	1	0	0	0	0	1	0	0	0	11189	971	34	3	948	3	OR52I2	11	4608988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	758	4608988	130397528	11251	18963											
OR52I1	390037	broad.mit.edu	37	chr11	4615444	4615444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctggatggattccactcGgcatgagcccatgtattgct	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615444G>A	ENST00000450052.2	+	2	248	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	OR52I1_ENST00000530443.2_Missense_Mutation_p.R59Q			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATTCCACTCGGCATGAGCCC	0.512													False	0	False	11:4615444	0	A	4615444	G	A	4615444	3	1	88	1	0	0	0	0	1	0	0	0	11188	1116	39	1	178	1	OR52I1	11	4615444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6456	4615444	130391072	11252	18964											
OR52I1	390037	broad.mit.edu	37	chr11	4615645	4615645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaccatggcttttgaccGctatgtagccatctgcaagc	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615645G>A	ENST00000450052.2	+	2	449	c.449G>A	c.(448-450)cGc>cAc	p.R150H	OR52I1_ENST00000530443.2_Missense_Mutation_p.R126H			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTTTGACCGCTATGTAGCC	0.502													False	0	False	11:4615645	0	A	4615645	G	A	4615645	3	1	88	1	0	0	0	0	1	0	0	0	11188	1087	38	1	379	1	OR52I1	11	4615645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201	4615645	130390871	11253	18965											
OR52I1	390037	broad.mit.edu	37	chr11	4615834	4615834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaagcacatagctttggCcaggttagcatgtgctgacc	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615834C>T	ENST00000450052.2	+	2	638	c.638C>T	c.(637-639)gCc>gTc	p.A213V	OR52I1_ENST00000530443.2_Missense_Mutation_p.A189V			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCTTTGGCCAGGTTAGCA	0.502													False	0	False	11:4615834	0	T	4615834	C	T	4615834	3	4	88	1	0	0	0	0	1	0	0	0	11188	739	26	2	568	2	OR52I1	11	4615834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	189	4615834	130390682	11254	18966											
TRIM68	55128	broad.mit.edu	37	chr11	4626372	4626372	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatgctctggggactgGctgcaggcctcacacattat	11	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4626372G>A	ENST00000300747.5	-	2	652	c.363C>T	c.(361-363)agC>agT	p.S121S		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	121					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGGGACTGGCTGCAGGCCT	0.552													False	0	False	11:4626372	0	A	4626372	G	A	4626372	2	1	88	1	0	0	0	0	0	0	0	1	16624	1194	42	2		2	TRIM68	11	4626372	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10538	4626372	130380144	11255	18967											
TRIM68	55128	broad.mit.edu	37	chr11	4626710	4626710	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccacttcttccacaatggCttccaccaaggctgtgggat	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4626710C>A	ENST00000300747.5	-	2	314	c.25G>T	c.(25-27)Gcc>Tcc	p.A9S		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	9					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCCACAATGGCTTCCACCAAG	0.512													False	0	False	11:4626710	0	A	4626710	C	A	4626710	3	1	88	1	0	0	0	0	1	0	0	0	16624	797	28	3	1456	3	TRIM68	11	4626710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338	4626710	130379806	11256	18968											
OR51D1	390038	broad.mit.edu	37	chr11	4661117	4661117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggtgggtatccctggcctgGggcctaccatacacttttgg	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4661117G>T	ENST00000357605.2	+	1	173	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCTGGCCTGGGGCCTACCAT	0.512													False	0	True	11:4661117	0	T	4661117	G	T	4661117	3	4	88	1	0	0	0	0	1	0	0	0	11161	1232	43	3	99	3	OR51D1	11	4661117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34407	4661117	130345399	11257	18969											
OR51D1	390038	broad.mit.edu	37	chr11	4661207	4661207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaccattgtcctcatcattCgtgtggagaggcgactgcat	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4661207C>T	ENST00000357605.2	+	1	263	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCATCATTCGTGTGGAGAG	0.542													False	0	False	11:4661207	0	T	4661207	C	T	4661207	3	4	88	1	0	0	0	0	1	0	0	0	11161	884	31	1	189	1	OR51D1	11	4661207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90	4661207	130345309	11258	18970											
OR51E1	143503	broad.mit.edu	37	chr11	4674108	4674108	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggcatggaatccacagtgCtgctggccatggcttttgac	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4674108C>A	ENST00000396952.5	+	2	1002	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCACAGTGCTGCTGGCCAT	0.522													False	0	False	11:4674108	0	A	4674108	C	A	4674108	3	1	88	1	0	0	0	0	1	0	0	0	11162	796	28	3	354	3	OR51E1	11	4674108	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12901	4674108	130332408	11259	18971											
OR51E2	81285	broad.mit.edu	37	chr11	4703289	4703289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaccgttcgtattatcagaAaataggacaaggagatgaac	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4703289A>G	ENST00000396950.3	-	2	892	c.653T>C	c.(652-654)tTt>tCt	p.F218S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TATTATCAGAAAATAGGACAA	0.488													False	0	True	11:4703289	0	G	4703289	A	G	4703289	3	3	88	1	0	0	0	0	1	0	0	0	11163	14	1	4	313	4	OR51E2	11	4703289	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29181	4703289	130303227	11260	18972											
OR51F1	256892	broad.mit.edu	37	chr11	4790217	4790217	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactatgtctgttcattttgTaagcagcagactgagcatag	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4790217T>C	ENST00000380383.1	-	1	951	c.952A>G	c.(952-954)Aca>Gca	p.T318A	MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.T311A|MMP26_ENST00000380390.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	311						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTTCATTTTGTAAGCAGCAGA	0.423													False	0	False	11:4790217	0	C	4790217	T	C	4790217	3	2	88	1	0	0	0	0	1	0	0	0	11164	1638	57	4	10	4	OR51F1	11	4790217	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86928	4790217	130216299	11261	18973											
OR52R1	119695	broad.mit.edu	37	chr11	4825055	4825055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacaccaacttcagcacagCcatgtgctcacagtatgact	6	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4825055C>T	ENST00000380382.1	-	1	792	c.793G>A	c.(793-795)Gct>Act	p.A265T	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A186T|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCAGCACAGCCATGTGCTCA	0.522													False	0	False	11:4825055	0	T	4825055	C	T	4825055	3	4	88	1	0	0	0	0	1	0	0	0	11199	739	26	2	394	2	OR52R1	11	4825055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34838	4825055	130181461	11262	18974											
OR51T1	401665	broad.mit.edu	37	chr11	4903513	4903513	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgaccgcttcgtggctatCtgtaacccactgaactatgc	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4903513C>T	ENST00000380378.1	+	1	465	c.465C>T	c.(463-465)atC>atT	p.I155I	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.I128I|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCGTGGCTATCTGTAACCCAC	0.488													False	0	False	11:4903513	0	T	4903513	C	T	4903513	2	4	88	1	0	0	0	0	0	0	0	1	11174	903	32	2		2	OR51T1	11	4903513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78458	4903513	130103003	11263	18975											
OR51T1	401665	broad.mit.edu	37	chr11	4903783	4903783	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacgtattgtttattcttttCtcctatgtcctgatcctccg	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4903783C>A	ENST00000380378.1	+	1	735	c.735C>A	c.(733-735)ttC>ttA	p.F245L	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.F218L|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTATTCTTTTCTCCTATGTCC	0.438													False	0	True	11:4903783	0	A	4903783	C	A	4903783	3	1	88	1	0	0	0	0	1	0	0	0	11174	912	32	3	737	3	OR51T1	11	4903783	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	270	4903783	130102733	11264	18976											
OR51A7	119687	broad.mit.edu	37	chr11	4929297	4929297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattgcatctttggcagagaGgcttaaggccctaaatacct	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4929297G>T	ENST00000359350.4	+	1	698	c.698G>T	c.(697-699)aGg>aTg	p.R233M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCAGAGAGGCTTAAGGCC	0.473													False	0	True	11:4929297	0	T	4929297	G	T	4929297	3	4	88	1	0	0	0	0	1	0	0	0	11156	1000	35	3	700	3	OR51A7	11	4929297	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25514	4929297	130077219	11265	18977											
MMP26	56547	broad.mit.edu	37	chr11	5009471	5009471	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcatcttaagagttactatCttcttgccctggtgtttcgc	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5009471C>A	ENST00000380390.1	+	2	246	c.30C>A	c.(28-30)atC>atA	p.I10I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000300762.1_Silent_p.I10I			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	10					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGTTACTATCTTCTTGCCCT	0.488											OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	11:5009471	0	A	5009471	C	A	5009471	2	1	88	1	0	0	0	0	0	0	0	1	9730	903	32	3		3	MMP26	11	5009471	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80174	5009471	129997045	11266	18978											
MMP26	56547	broad.mit.edu	37	chr11	5011082	5011082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgcaagtggaataagCacactctaacttacaggtgc	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5011082C>T	ENST00000380390.1	+	3	520	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	MMP26_ENST00000300762.1_Missense_Mutation_p.H102Y			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	102					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGGAATAAGCACACTCTAAC	0.527													False	0	False	11:5011082	0	T	5011082	C	T	5011082	3	4	88	1	0	0	0	0	1	0	0	0	9730	710	25	2	310	2	MMP26	11	5011082	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1611	5011082	129995434	11267	18979											
MMP26	56547	broad.mit.edu	37	chr11	5013249	5013249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcattctttgggcctgcaGcactctgggaatcagagctc	13	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5013249G>T	ENST00000380390.1	+	6	867	c.651G>T	c.(649-651)caG>caT	p.Q217H	MMP26_ENST00000300762.1_Missense_Mutation_p.Q217H			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	217					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGGCCTGCAGCACTCTGGGA	0.413													False	0	False	11:5013249	0	T	5013249	G	T	5013249	3	4	88	1	0	0	0	0	1	0	0	0	9730	962	34	3	669	3	MMP26	11	5013249	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2167	5013249	129993267	11268	18980											
MMP26	56547	broad.mit.edu	37	chr11	5013323	5013323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagaaccttccagctcagtgCcgatgatatccaaaggatcc	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5013323C>T	ENST00000380390.1	+	6	941	c.725C>T	c.(724-726)gCc>gTc	p.A242V	MMP26_ENST00000300762.1_Missense_Mutation_p.A242V			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	242					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGCTCAGTGCCGATGATATC	0.473													False	0	False	11:5013323	0	T	5013323	C	T	5013323	3	4	88	1	0	0	0	0	1	0	0	0	9730	739	26	2	743	2	MMP26	11	5013323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	5013323	129993193	11269	18981											
OR52E2	119678	broad.mit.edu	37	chr11	5079958	5079958	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attttcttcacacatttataGatctgcttggttctgactcc	5	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5079958G>T	ENST00000321522.2	-	1	899	c.900C>A	c.(898-900)atC>atA	p.I300I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACATTTATAGATCTGCTTGG	0.383													False	0	False	11:5079958	0	T	5079958	G	T	5079958	2	4	88	1	0	0	0	0	0	0	0	1	11183	932	33	3		3	OR52E2	11	5079958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66635	5079958	129926558	11270	18982											
OR52A5	390054	broad.mit.edu	37	chr11	5153029	5153029	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggtgggactaacaggtaaaGatttgacaagaggatatgaa	13	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5153029G>A	ENST00000307388.1	-	1	843	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACAGGTAAAGATTTGACAAG	0.383													False	0	True	11:5153029	0	A	5153029	G	A	5153029	3	1	88	1	0	0	0	0	1	0	0	0	11178	942	33	2	109	2	OR52A5	11	5153029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73071	5153029	129853487	11271	18983											
OR52A1	23538	broad.mit.edu	37	chr11	5173380	5173380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataatgctgctagcaagtgCaatgtctgtggctcctagca	10	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5173380C>T	ENST00000380367.1	-	2	637	c.220G>A	c.(220-222)Gca>Aca	p.A74T	OR52A1_ENST00000328942.1_Missense_Mutation_p.A74T			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	74					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAGCAAGTGCAATGTCTGTG	0.418													False	0	False	11:5173380	0	T	5173380	C	T	5173380	3	4	88	1	0	0	0	0	1	0	0	0	11176	710	25	2	720	2	OR52A1	11	5173380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20351	5173380	129833136	11272	18984											
OR51V1	283111	broad.mit.edu	37	chr11	5221325	5221325	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agggcatagtaactattgaaTcggatgtctgaacaggctaa	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221325T>C	ENST00000321255.1	-	1	605	c.606A>G	c.(604-606)cgA>cgG	p.R202R		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTATTGAATCGGATGTCTG	0.413													False	0	False	11:5221325	0	C	5221325	T	C	5221325	2	2	88	1	0	0	0	0	0	0	0	1	11175	1422	50	4		4	OR51V1	11	5221325	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47945	5221325	129785191	11273	18985											
OR51V1	283111	broad.mit.edu	37	chr11	5221587	5221587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggactccatgaaggacagaCcatggatgaaataggactgg	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221587C>T	ENST00000321255.1	-	1	343	c.344G>A	c.(343-345)gGt>gAt	p.G115D		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGACAGACCATGGATGAA	0.502													False	0	False	11:5221587	0	T	5221587	C	T	5221587	3	4	88	1	0	0	0	0	1	0	0	0	11175	507	18	2	624	2	OR51V1	11	5221587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	5221587	129784929	11274	18986											
OR51V1	283111	broad.mit.edu	37	chr11	5221811	5221811	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accatggcatagattgaggaGaaggggatggaaagccaggg	17	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221811G>T	ENST00000321255.1	-	1	119	c.120C>A	c.(118-120)ttC>ttA	p.F40L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATTGAGGAGAAGGGGATGG	0.483													False	0	False	11:5221811	0	T	5221811	G	T	5221811	3	4	88	1	0	0	0	0	1	0	0	0	11175	933	33	3	848	3	OR51V1	11	5221811	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224	5221811	129784705	11275	18987											
HBB	3043	broad.mit.edu	37	chr11	5248009	5248009	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaaagaacctctgggtcCaagggtagaccaccagcagc	10	13	2	2	rs63750532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5248009C>T	ENST00000335295.4	-	2	162	c.113G>A	c.(112-114)tGg>tAg	p.W38*		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta				W -> G (in Howick).|W -> R (in Rothschild; O(2) affinity down).|W -> S (in Hirose; O(2) affinity up).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CCTCTGGGTCCAAGGGTAGAC	0.522									Sickle Cell Trait				False	0	False	11:5248009	0	T	5248009	C	T	5248009	4	4	88	1	0	0	0	0	0	1	0	0	7025	595	21	2	338	2	HBB	11	5248009	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26198	5248009	129758507	11276	18988											
OR51B4	79339	broad.mit.edu	37	chr11	5322876	5322876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacaatggccagtgaatgaaTgaaggattgggtgaaacagg	14	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5322876T>C	ENST00000380224.1	-	1	350	c.301A>G	c.(301-303)Att>Gtt	p.I101V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGAATGAATGAAGGATTGG	0.493													False	0	True	11:5322876	0	C	5322876	T	C	5322876	3	2	88	1	0	0	0	0	1	0	0	0	11158	1464	51	4	634	4	OR51B4	11	5322876	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	74867	5322876	129683640	11277	18989											
OR51B5	282763	broad.mit.edu	37	chr11	5364599	5364599	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtacatgggctcatgaagAttgtgatcttccttaatgag	10	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5364599A>G	ENST00000300773.2	-	1	210	c.156T>C	c.(154-156)aaT>aaC	p.N52N	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCATGAAGATTGTGATCTT	0.502													False	0	False	11:5364599	0	G	5364599	A	G	5364599	2	3	88	1	0	0	0	0	0	0	0	1	11159	330	12	4		4	OR51B5	11	5364599	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41723	5364599	129641917	11278	18990											
OR51M1	390059	broad.mit.edu	37	chr11	5411272	5411272	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgtatggactgatggtggTagttttcactgtgatgctgg	14	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5411272T>C	ENST00000328611.3	+	1	666	c.644T>C	c.(643-645)gTa>gCa	p.V215A	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	215						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGATGGTGGTAGTTTTCACT	0.537													False	0	False	11:5411272	0	C	5411272	T	C	5411272	3	2	88	1	0	0	0	0	1	0	0	0	11171	1638	57	4	646	4	OR51M1	11	5411272	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46673	5411272	129595244	11279	18991											
OR51M1	390059	broad.mit.edu	37	chr11	5411487	5411487	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccccacctgctattcatcttCttatggccaatgtctacctt	4	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5411487C>T	ENST00000328611.3	+	1	881	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	287						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTCATCTTCTTATGGCCAA	0.498													False	0	False	11:5411487	0	T	5411487	C	T	5411487	3	4	88	1	0	0	0	0	1	0	0	0	11171	913	32	2	861	2	OR51M1	11	5411487	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215	5411487	129595029	11280	18992											
OR51Q1	390061	broad.mit.edu	37	chr11	5443517	5443517	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggcctcccacatctggatCtccatccccgtctgctgtct	8	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5443517C>T	ENST00000300778.4	+	1	177	c.87C>T	c.(85-87)atC>atT	p.I29I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCTGGATCTCCATCCCCG	0.522													False	0	False	11:5443517	0	T	5443517	C	T	5443517	2	4	88	1	0	0	0	0	0	0	0	1	11172	903	32	2		2	OR51Q1	11	5443517	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32030	5443517	129562999	11281	18993											
OR51Q1	390061	broad.mit.edu	37	chr11	5444251	5444251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcatgcctctccactggTccatgttatcatggccaata	7	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5444251T>C	ENST00000300778.4	+	1	911	c.821T>C	c.(820-822)gTc>gCc	p.V274A	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCACTGGTCCATGTTATC	0.473													False	0	False	11:5444251	0	C	5444251	T	C	5444251	3	2	88	1	0	0	0	0	1	0	0	0	11172	1667	58	4	823	4	OR51Q1	11	5444251	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	734	5444251	129562265	11282	18994											
OR51I2	390064	broad.mit.edu	37	chr11	5475109	5475109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccatttgtgaccccttgCgctatgcaactgtgctcacc	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5475109C>T	ENST00000341449.2	+	1	472	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACCCCTTGCGCTATGCAAC	0.453													False	0	False	11:5475109	0	T	5475109	C	T	5475109	3	4	88	1	0	0	0	0	1	0	0	0	11169	768	27	1	393	1	OR51I2	11	5475109	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30858	5475109	129531407	11283	18995											
OR51I2	390064	broad.mit.edu	37	chr11	5475516	5475516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtgcaccgctttgggaaGcatgtcccatgctacataca	9	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5475516G>A	ENST00000341449.2	+	1	879	c.798G>A	c.(796-798)aaG>aaA	p.K266K	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTTGGGAAGCATGTCCCAT	0.468													False	0	False	11:5475516	0	A	5475516	G	A	5475516	2	1	88	1	0	0	0	0	0	0	0	1	11169	962	34	2		2	OR51I2	11	5475516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407	5475516	129531000	11284	18996											
OR52D1	390066	broad.mit.edu	37	chr11	5510879	5510879	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaactgcttcacctggggAagacttcaatatgaatgctg	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5510879A>G	ENST00000322641.5	+	1	965	c.943A>G	c.(943-945)Aag>Gag	p.K315E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACCTGGGGAAGACTTCAAT	0.413													False	0	True	11:5510879	0	G	5510879	A	G	5510879	3	3	88	1	0	0	0	0	1	0	0	0	11182	247	9	4	945	4	OR52D1	11	5510879	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35363	5510879	129495637	11285	18997											
UBQLN3	50613	broad.mit.edu	37	chr11	5529987	5529987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaactgctcctggactgCgttaagcattgggtccataa	10	11	0	0	rs144033515	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5529987C>T	ENST00000311659.4	-	2	949	c.802G>A	c.(802-804)Gca>Aca	p.A268T	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	268										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGACTGCGTTAAGCATT	0.517													False	0	False	11:5529987	0	T	5529987	C	T	5529987	3	4	88	1	0	0	0	0	1	0	0	0	16982	768	27	1	1169	1	UBQLN3	11	5529987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19108	5529987	129476529	11286	18998											
UBQLN3	50613	broad.mit.edu	37	chr11	5530082	5530082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgagcacccggtcctggCtacgtatcatctcctgcatc	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530082C>T	ENST00000311659.4	-	2	854	c.707G>A	c.(706-708)aGc>aAc	p.S236N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	236										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGGTCCTGGCTACGTATCAT	0.478													False	0	False	11:5530082	0	T	5530082	C	T	5530082	3	4	88	1	0	0	0	0	1	0	0	0	16982	797	28	2	1264	2	UBQLN3	11	5530082	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95	5530082	129476434	11287	18999											
UBQLN3	50613	broad.mit.edu	37	chr11	5530259	5530259	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgttggacagcagacccgggAtgaaggggtcatcaatgagc	15	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530259A>T	ENST00000311659.4	-	2	677	c.530T>A	c.(529-531)aTc>aAc	p.I177N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	177										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGACCCGGGATGAAGGGGTC	0.562													False	0	True	11:5530259	0	T	5530259	A	T	5530259	3	4	88	1	0	0	0	0	1	0	0	0	16982	333	12	5	1441	5	UBQLN3	11	5530259	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	177	5530259	129476257	11288	19000											
UBQLN3	50613	broad.mit.edu	37	chr11	5530451	5530451	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgagggagtgatccaggaCttgggccctgggtagggaca	18	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530451C>A	ENST00000311659.4	-	2	485	c.338G>T	c.(337-339)aGt>aTt	p.S113I	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	113										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATCCAGGACTTGGGCCCTG	0.617													False	0	False	11:5530451	0	A	5530451	C	A	5530451	3	1	88	1	0	0	0	0	1	0	0	0	16982	565	20	3	1633	3	UBQLN3	11	5530451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192	5530451	129476065	11289	19001											
UBQLNL	143630	broad.mit.edu	37	chr11	5536814	5536814	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtttcctccaaaaggatcTtgcatgctgttcagcatttg	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5536814T>G	ENST00000380184.1	-	1	1121	c.858A>C	c.(856-858)caA>caC	p.Q286H	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	286										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CAAAAGGATCTTGCATGCTGT	0.498													False	0	False	11:5536814	0	G	5536814	T	G	5536814	3	3	88	1	0	0	0	0	1	0	0	0	16984	1606	56	4	573	4	UBQLNL	11	5536814	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6363	5536814	129469702	11290	19002											
UBQLNL	143630	broad.mit.edu	37	chr11	5537044	5537044	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagaagaaggcgggaaacttCtgggttctgctgcatcaatt	12	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5537044C>T	ENST00000380184.1	-	1	891	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	210										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CGGGAAACTTCTGGGTTCTGC	0.468													False	0	False	11:5537044	0	T	5537044	C	T	5537044	3	4	88	1	0	0	0	0	1	0	0	0	16984	922	32	2	803	2	UBQLNL	11	5537044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230	5537044	129469472	11291	19003											
UBQLNL	143630	broad.mit.edu	37	chr11	5537124	5537124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actccatgttggacagaagcCgctggatgctaggattctcc	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5537124C>T	ENST00000380184.1	-	1	811	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	183										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGACAGAAGCCGCTGGATGCT	0.493													False	0	False	11:5537124	0	T	5537124	C	T	5537124	3	4	88	1	0	0	0	0	1	0	0	0	16984	652	23	1	883	1	UBQLNL	11	5537124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	5537124	129469392	11292	19004											
OR52H1	390067	broad.mit.edu	37	chr11	5566168	5566168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggagatatcagcacaggCgagctgggcaacacctatat	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5566168C>T	ENST00000322653.4	-	1	611	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGCACAGGCGAGCTGGGCA	0.483													False	0	False	11:5566168	0	T	5566168	C	T	5566168	3	4	88	1	0	0	0	0	1	0	0	0	11187	768	27	1	379	1	OR52H1	11	5566168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29044	5566168	129440348	11293	19005											
OR52B6	340980	broad.mit.edu	37	chr11	5602224	5602224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcactggcatccctgggCtggagcaactacatatctgg	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5602224C>T	ENST00000345043.2	+	1	118	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCCTGGGCTGGAGCAACT	0.507													False	0	True	11:5602224	0	T	5602224	C	T	5602224	2	4	88	1	0	0	0	0	0	0	0	1	11181	796	28	2		2	OR52B6	11	5602224	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36056	5602224	129404292	11294	19006											
OR52B6	340980	broad.mit.edu	37	chr11	5602323	5602323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgtcatcctctcccagGcaatcctgcatgagcccatg	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5602323G>A	ENST00000345043.2	+	1	217	c.217G>A	c.(217-219)Gca>Aca	p.A73T	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCTCCCAGGCAATCCTGCA	0.507													False	0	False	11:5602323	0	A	5602323	G	A	5602323	3	1	88	1	0	0	0	0	1	0	0	0	11181	1203	42	2	219	2	OR52B6	11	5602323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99	5602323	129404193	11295	19007											
TRIM6	117854	broad.mit.edu	37	chr11	5626734	5626734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtccaccagacccagtcGctgcgagagctcatctcgga	11	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5626734G>A	ENST00000380097.3	+	4	1013	c.771G>A	c.(769-771)tcG>tcA	p.S257S	AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Silent_p.S257S|TRIM6_ENST00000506134.1_Silent_p.S54S|TRIM6_ENST00000380107.1_Silent_p.S203S|TRIM6_ENST00000445329.1_Silent_p.S54S|TRIM6_ENST00000507320.1_Silent_p.S54S|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000278302.5_Silent_p.S229S|TRIM6_ENST00000515022.1_Silent_p.S54S	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGACCCAGTCGCTGCGAGAGC	0.537											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	11:5626734	0	A	5626734	G	A	5626734	2	1	88	1	0	0	0	0	0	0	0	1	16616	1074	38	1		1	TRIM6	11	5626734	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24411	5626734	129379782	11296	19008											
TRIM5	85363	broad.mit.edu	37	chr11	5687305	5687305	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcttcttcaaggtcacgttCtccgtcctaagaattaaaaa	7	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5687305C>A	ENST00000305836.5	-	6	1076	c.774G>T	c.(772-774)gaG>gaT	p.E258D	TRIM5_ENST00000380027.1_Missense_Mutation_p.E258D|TRIM5_ENST00000380034.3_Missense_Mutation_p.E258D|TRIM5_ENST00000396847.3_Missense_Mutation_p.E258D|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Missense_Mutation_p.E259D|TRIM5_ENST00000396855.3_Missense_Mutation_p.E258D			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	258					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AGGTCACGTTCTCCGTCCTAA	0.408													False	0	False	11:5687305	0	A	5687305	C	A	5687305	3	1	88	1	0	0	0	0	1	0	0	0	16608	912	32	3	958	3	TRIM5	11	5687305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60571	5687305	129319211	11297	19009											
TRIM5	85363	broad.mit.edu	37	chr11	5699533	5699533	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accatctcagtttcagagttCgtaaggcttttcagaatgtc	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5699533C>T	ENST00000305836.5	-	4	947	c.645G>A	c.(643-645)acG>acA	p.T215T	TRIM5_ENST00000380027.1_Silent_p.T215T|TRIM5_ENST00000380034.3_Silent_p.T215T|TRIM5_ENST00000396847.3_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Silent_p.T215T|TRIM5_ENST00000396855.3_Silent_p.T215T			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	215					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTCAGAGTTCGTAAGGCTTT	0.527													False	0	False	11:5699533	0	T	5699533	C	T	5699533	2	4	88	1	0	0	0	0	0	0	0	1	16608	871	31	1		1	TRIM5	11	5699533	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12228	5699533	129306983	11298	19010											
TRIM22	10346	broad.mit.edu	37	chr11	5730696	5730696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactctctttatggctgtgCctccctgtcgtattggggtt	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5730696C>T	ENST00000379965.3	+	8	1592	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	439	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TATGGCTGTGCCTCCCTGTCG	0.438													False	0	False	11:5730696	0	T	5730696	C	T	5730696	3	4	88	1	0	0	0	0	1	0	0	0	16579	739	26	2	1341	2	TRIM22	11	5730696	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31163	5730696	129275820	11299	19011											
OR52N4	390072	broad.mit.edu	37	chr11	5776325	5776325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagtctggggtgcttatgCttatggccctggatcgctat	14	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5776325C>A	ENST00000317254.3	+	1	403	c.355C>A	c.(355-357)Ctt>Att	p.L119I	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GGTGCTTATGCTTATGGCCCT	0.488													False	0	True	11:5776325	0	A	5776325	C	A	5776325	3	1	88	1	0	0	0	0	1	0	0	0	11197	797	28	3	357	3	OR52N4	11	5776325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45629	5776325	129230191	11300	19012											
OR52N5	390075	broad.mit.edu	37	chr11	5799527	5799527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacacctgtgaacccatgaAcaaagaacatctgggccaag	8	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799527A>G	ENST00000317093.2	-	1	370	c.338T>C	c.(337-339)gTt>gCt	p.V113A	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAACCCATGAACAAAGAACAT	0.493													False	0	False	11:5799527	0	G	5799527	A	G	5799527	3	3	88	1	0	0	0	0	1	0	0	0	11198	43	2	4	640	4	OR52N5	11	5799527	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23202	5799527	129206989	11301	19013											
OR52N5	390075	broad.mit.edu	37	chr11	5799696	5799696	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaggactcctcataataaaTgaggtacacaagaccaagat	7	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799696T>C	ENST00000317093.2	-	1	201	c.169A>G	c.(169-171)Att>Gtt	p.I57V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TCATAATAAATGAGGTACACA	0.453													False	0	True	11:5799696	0	C	5799696	T	C	5799696	3	2	88	1	0	0	0	0	1	0	0	0	11198	1464	51	4	809	4	OR52N5	11	5799696	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	169	5799696	129206820	11302	19014											
OR52N5	390075	broad.mit.edu	37	chr11	5799846	5799846	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aattgttggaaaccagcataAtgaattaaatagaggcattc	8	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799846A>C	ENST00000317093.2	-	1	51	c.19T>G	c.(19-21)Tta>Gta	p.L7V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AACCAGCATAATGAATTAAAT	0.348													False	0	False	11:5799846	0	C	5799846	A	C	5799846	3	2	88	1	0	0	0	0	1	0	0	0	11198	98	4	4	959	4	OR52N5	11	5799846	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150	5799846	129206670	11303	19015											
OR52N2	390077	broad.mit.edu	37	chr11	5842359	5842359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcacttttttcactcatcGttttgtaggacacaatatcc	4	10	3	0	rs150750582		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5842359G>A	ENST00000317037.2	+	1	816	c.794G>A	c.(793-795)cGt>cAt	p.R265H	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R265H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCACTCATCGTTTTGTAGGA	0.438													False	0	True	11:5842359	0	A	5842359	G	A	5842359	3	1	88	1	0	0	0	0	1	0	0	0	11196	1145	40	1	796	1	OR52N2	11	5842359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42513	5842359	129164157	11304	19016											
OR52E8	390079	broad.mit.edu	37	chr11	5878211	5878211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccacaggtgttgagagctTtgagtcgagcttcccaggag	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5878211T>C	ENST00000537935.1	-	1	753	c.722A>G	c.(721-723)aAa>aGa	p.K241R	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGAGAGCTTTGAGTCGAGC	0.413													False	0	True	11:5878211	0	C	5878211	T	C	5878211	3	2	88	1	0	0	0	0	1	0	0	0	11186	1841	64	4	233	4	OR52E8	11	5878211	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35852	5878211	129128305	11305	19017											
OR52E4	390081	broad.mit.edu	37	chr11	5906196	5906196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgtgcttatccttagagCtgtttttcgccttccctctc	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5906196C>T	ENST00000316987.2	+	1	696	c.674C>T	c.(673-675)gCt>gTt	p.A225V		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCTTAGAGCTGTTTTTCGC	0.403													False	0	False	11:5906196	0	T	5906196	C	T	5906196	3	4	88	1	0	0	0	0	1	0	0	0	11184	797	28	2	676	2	OR52E4	11	5906196	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27985	5906196	129100320	11306	19018											
OR52L1	338751	broad.mit.edu	37	chr11	6007343	6007343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtgaggaaggagaaaattCcagggacatagaagaccagg	15	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6007343C>T	ENST00000332249.4	-	1	872	c.818G>A	c.(817-819)gGa>gAa	p.G273E		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGAAAATTCCAGGGACATA	0.512													False	0	False	11:6007343	0	T	6007343	C	T	6007343	3	4	88	1	0	0	0	0	1	0	0	0	11193	855	30	2	175	2	OR52L1	11	6007343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101147	6007343	128999173	11307	19019											
FAM160A2	84067	broad.mit.edu	37	chr11	6238932	6238932	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggggagggggcaggtgAccagggccctcccctgcacc	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6238932A>G	ENST00000265978.4	-	9	2284	c.1926T>C	c.(1924-1926)ggT>ggC	p.G642G	FAM160A2_ENST00000449352.2_Silent_p.G628G|FAM160A2_ENST00000524416.1_Silent_p.G628G	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	628					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGGCAGGTGACCAGGGccct	0.667													False	0	False	11:6238932	0	G	6238932	A	G	6238932	2	3	88	1	0	0	0	0	0	0	0	1	5505	262	10	4		4	FAM160A2	11	6238932	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	231589	6238932	128767584	11308	19020											
FAM160A2	84067	broad.mit.edu	37	chr11	6239851	6239851	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcgtgcccatgaggcatgctCtggacgaggtgggctggggg	19	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6239851C>A	ENST00000265978.4	-	8	1772	c.1414G>T	c.(1414-1416)Gag>Tag	p.E472*	FAM160A2_ENST00000449352.2_Nonsense_Mutation_p.E472*|FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.E472*	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	472					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGGCATGCTCTGGACGAGGT	0.607													False	0	False	11:6239851	0	A	6239851	C	A	6239851	4	1	88	1	0	0	0	0	0	1	0	0	5505	922	32	3	1566	3	FAM160A2	11	6239851	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	919	6239851	128766665	11309	19021											
FAM160A2	84067	broad.mit.edu	37	chr11	6244424	6244424	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccctggaacctcaatcttTcgaggcagtgatgagtacag	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6244424T>C	ENST00000265978.4	-	4	1180	c.822A>G	c.(820-822)cgA>cgG	p.R274R	FAM160A2_ENST00000449352.2_Silent_p.R274R|FAM160A2_ENST00000524416.1_Silent_p.R274R	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	274					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTCAATCTTTCGAGGCAGTG	0.473													False	0	True	11:6244424	0	C	6244424	T	C	6244424	2	2	88	1	0	0	0	0	0	0	0	1	5505	1770	62	4		4	FAM160A2	11	6244424	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4573	6244424	128762092	11310	19022											
FAM160A2	84067	broad.mit.edu	37	chr11	6245399	6245399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgtcaacatctggtaaGtgtggttgcgcacagcactg	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6245399G>A	ENST00000265978.4	-	3	576	c.218C>T	c.(217-219)aCt>aTt	p.T73I	FAM160A2_ENST00000449352.2_Missense_Mutation_p.T73I|FAM160A2_ENST00000524416.1_Missense_Mutation_p.T73I	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	73					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATCTGGTAAGTGTGGTTGCG	0.622													False	0	False	11:6245399	0	A	6245399	G	A	6245399	3	1	88	1	0	0	0	0	1	0	0	0	5505	1029	36	2	2782	2	FAM160A2	11	6245399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	975	6245399	128761117	11311	19023											
CNGA4	1262	broad.mit.edu	37	chr11	6261612	6261612	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctatcccggtacctgggcttCgggcgtgacgcatgggtgta	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6261612C>T	ENST00000379936.2	+	4	703	c.588C>T	c.(586-588)ttC>ttT	p.F196F	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	196					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGGGCTTCGGGCGTGACG	0.552													False	0	True	11:6261612	0	T	6261612	C	T	6261612	2	4	88	1	0	0	0	0	0	0	0	1	3622	883	31	1		1	CNGA4	11	6261612	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16213	6261612	128744904	11312	19024											
CCKBR	887	broad.mit.edu	37	chr11	6291375	6291375	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catcgcactggagcggtacaGcgccatctgccgaccactgc	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6291375G>T	ENST00000525462.1	+	3	464	c.461G>T	c.(460-462)aGc>aTc	p.S154I	CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.S154I|CCKBR_ENST00000532715.1_Missense_Mutation_p.S70I			P32239	GASR_HUMAN	cholecystokinin B receptor	139					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAGCGGTACAGCGCCATCTGC	0.602													False	0	False	11:6291375	0	T	6291375	G	T	6291375	3	4	88	1	0	0	0	0	1	0	0	0	2902	971	34	3	471	3	CCKBR	11	6291375	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29763	6291375	128715141	11313	19025											
CCKBR	887	broad.mit.edu	37	chr11	6291537	6291537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctgcagtgcgtgcatcGctggcccagtgcgcgggtcc	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6291537G>A	ENST00000525462.1	+	3	626	c.623G>A	c.(622-624)cGc>cAc	p.R208H	CCKBR_ENST00000334619.2_Missense_Mutation_p.R208H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R124H			P32239	GASR_HUMAN	cholecystokinin B receptor	168					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGCGTGCATCGCTGGCCCAGT	0.582													False	0	False	11:6291537	0	A	6291537	G	A	6291537	3	1	88	1	0	0	0	0	1	0	0	0	2902	1087	38	1	633	1	CCKBR	11	6291537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162	6291537	128714979	11314	19026											
CCKBR	887	broad.mit.edu	37	chr11	6292613	6292613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctactgcttcatgcaccGtcgctttcgccaggcctgcc	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6292613G>A	ENST00000525462.1	+	4	1394	c.1391G>A	c.(1390-1392)cGt>cAt	p.R464H	CCKBR_ENST00000334619.2_Missense_Mutation_p.R395H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R311H			P32239	GASR_HUMAN	cholecystokinin B receptor	395					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCATGCACCGTCGCTTTCGC	0.647													False	0	False	11:6292613	0	A	6292613	G	A	6292613	3	1	88	1	0	0	0	0	1	0	0	0	2902	1145	40	1	1202	1	CCKBR	11	6292613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1076	6292613	128713903	11315	19027											
PRKCDBP	112464	broad.mit.edu	37	chr11	6340679	6340679	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggactccaccggctcctcgTccgagctctctccaacttcg	8	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6340679T>C	ENST00000303927.3	-	2	670	c.500A>G	c.(499-501)gAc>gGc	p.D167G	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.D199G	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	167										large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGCTCCTCGTCCGAGCTCTC	0.692													False	0	False	11:6340679	0	C	6340679	T	C	6340679	3	2	88	1	0	0	0	0	1	0	0	0	12586	1667	58	4	289	4	PRKCDBP	11	6340679	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48066	6340679	128665837	11316	19028											
APBB1	322	broad.mit.edu	37	chr11	6422833	6422833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctcatgcaggctggtggCgatgttcttggcaggtgcct	15	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6422833C>T	ENST00000389906.2	-	9	1573	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	APBB1_ENST00000608655.1_Missense_Mutation_p.A272T|APBB1_ENST00000609360.1_Missense_Mutation_p.A492T|APBB1_ENST00000609331.1_Missense_Mutation_p.A257T|APBB1_ENST00000608645.1_Missense_Mutation_p.A233T|APBB1_ENST00000530885.1_Missense_Mutation_p.A270T|APBB1_ENST00000311051.3_Missense_Mutation_p.A490T|APBB1_ENST00000608394.1_Missense_Mutation_p.A233T|APBB1_ENST00000529519.1_Missense_Mutation_p.A17T|APBB1_ENST00000299402.6_Missense_Mutation_p.A490T|APBB1_ENST00000608704.1_Missense_Mutation_p.A233T			O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	492	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGGCTGGTGGCGATGTTCTTG	0.582													False	0	False	11:6422833	0	T	6422833	C	T	6422833	3	4	88	1	0	0	0	0	1	0	0	0	761	768	27	1	682	1	APBB1	11	6422833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82154	6422833	128583683	11317	19029											
APBB1	322	broad.mit.edu	37	chr11	6432329	6432329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgattctggtcacggtgGgccgtggcggcccgccggag	18	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6432329G>A	ENST00000389906.2	-	2	348	c.249C>T	c.(247-249)gcC>gcT	p.A83A	APBB1_ENST00000609360.1_Silent_p.A83A|APBB1_ENST00000311051.3_Silent_p.A83A|APBB1_ENST00000299402.6_Silent_p.A83A			O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	83					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGTCACGGTGGGCCGTGGCGG	0.662													False	0	True	11:6432329	0	A	6432329	G	A	6432329	2	1	88	1	0	0	0	0	0	0	0	1	761	1219	43	2		2	APBB1	11	6432329	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9496	6432329	128574187	11318	19030											
TRIM3	10612	broad.mit.edu	37	chr11	6472627	6472627	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcccaggtgagcgtcctcgGaccccaaaacggaacttgaa	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6472627G>A	ENST00000525074.1	-	8	1969	c.1575C>T	c.(1573-1575)gtC>gtT	p.V525V	TRIM3_ENST00000345851.3_Silent_p.V525V|TRIM3_ENST00000536344.1_Silent_p.V406V|TRIM3_ENST00000359518.3_Silent_p.V525V|TRIM3_ENST00000537602.1_Silent_p.V447V	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	525					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGTCCTCGGACCCCAAAAC	0.587													False	0	False	11:6472627	0	A	6472627	G	A	6472627	2	1	88	1	0	0	0	0	0	0	0	1	16587	1161	41	2		2	TRIM3	11	6472627	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40298	6472627	128533889	11319	19031											
TRIM3	10612	broad.mit.edu	37	chr11	6477406	6477406	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcccttccacgactgcCtgtgggaagggacaggaggg	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477406C>T	ENST00000525074.1	-	7	1824		c.e7-1		TRIM3_ENST00000529058.1_Splice_Site|TRIM3_ENST00000345851.3_Splice_Site|TRIM3_ENST00000536344.1_Splice_Site|TRIM3_ENST00000359518.3_Splice_Site|TRIM3_ENST00000537602.1_Splice_Site	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3						nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACGACTGCCTGTGGGAAGG	0.537													False	0	False	11:6477406	0	T	6477406	C	T	6477406	5	4	88	1	0	0	0	0	0	0	1	0	16587	695	24	2	829	2	TRIM3	11	6477406	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4779	6477406	128529110	11320	19032											
TRIM3	10612	broad.mit.edu	37	chr11	6477726	6477726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacgcggaaggggctgccGcgcactggctgtccgtagag	17	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477726G>A	ENST00000525074.1	-	6	1624	c.1230C>T	c.(1228-1230)cgC>cgT	p.R410R	TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000345851.3_Silent_p.R410R|TRIM3_ENST00000536344.1_Silent_p.R291R|TRIM3_ENST00000359518.3_Silent_p.R410R|TRIM3_ENST00000537602.1_Silent_p.R332R	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	410					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGGCTGCCGCGCACTGGCT	0.677													False	0	False	11:6477726	0	A	6477726	G	A	6477726	2	1	88	1	0	0	0	0	0	0	0	1	16587	1074	38	1		1	TRIM3	11	6477726	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	320	6477726	128528790	11321	19033											
TRIM3	10612	broad.mit.edu	37	chr11	6478037	6478037	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagattgagcaccgatcGccgcagaccgtccacctcaa	9	17	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6478037G>A	ENST00000525074.1	-	6	1313	c.919C>T	c.(919-921)Cga>Tga	p.R307*	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Nonsense_Mutation_p.R307*|TRIM3_ENST00000536344.1_Nonsense_Mutation_p.R188*|TRIM3_ENST00000359518.3_Nonsense_Mutation_p.R307*|TRIM3_ENST00000537602.1_Nonsense_Mutation_p.R229*	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	307					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACCGATCGCCGCAGACCG	0.672													False	0	False	11:6478037	0	A	6478037	G	A	6478037	4	1	88	1	0	0	0	0	0	1	0	0	16587	1095	38	1	1343	1	TRIM3	11	6478037	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311	6478037	128528479	11322	19034											
TRIM3	10612	broad.mit.edu	37	chr11	6478645	6478645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagggcctctgccttgcGctcctgcagctgctggctga	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6478645G>A	ENST00000525074.1	-	5	971	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Missense_Mutation_p.R193C|TRIM3_ENST00000536344.1_Missense_Mutation_p.R74C|TRIM3_ENST00000359518.3_Missense_Mutation_p.R193C|TRIM3_ENST00000537602.1_Missense_Mutation_p.R193C	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	193					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCCTTGCGCTCCTGCAGC	0.612													False	0	False	11:6478645	0	A	6478645	G	A	6478645	3	1	88	1	0	0	0	0	1	0	0	0	16587	1087	38	1	1689	1	TRIM3	11	6478645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	608	6478645	128527871	11323	19035											
TRIM3	10612	broad.mit.edu	37	chr11	6479076	6479076	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacagtaaaactccatcGtctgcggtacaaggactcca	7	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479076G>A	ENST00000525074.1	-	4	759	c.365C>T	c.(364-366)aCg>aTg	p.T122M	TRIM3_ENST00000345851.3_Splice_Site_p.T122M|TRIM3_ENST00000536344.1_Splice_Site_p.T3M|TRIM3_ENST00000359518.3_Splice_Site_p.T122M|TRIM3_ENST00000537602.1_Splice_Site_p.T122M	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	122					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACTCCATCGTCTGCGGTAC	0.602													False	0	False	11:6479076	0	A	6479076	G	A	6479076	5	1	88	1	0	0	0	0	0	0	1	0	16587	1159	40	1	1905	1	TRIM3	11	6479076	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	431	6479076	128527440	11324	19036											
TRIM3	10612	broad.mit.edu	37	chr11	6479370	6479370	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggtcctccgggtcgtgGgccccatcaggtgcctgctg	17	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479370G>A	ENST00000525074.1	-	3	682	c.288C>T	c.(286-288)gcC>gcT	p.A96A	TRIM3_ENST00000345851.3_Silent_p.A96A|TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000359518.3_Silent_p.A96A|TRIM3_ENST00000537602.1_Silent_p.A96A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	96					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGGGTCGTGGGCCCCATCAG	0.652													False	0	True	11:6479370	0	A	6479370	G	A	6479370	2	1	88	1	0	0	0	0	0	0	0	1	16587	1219	43	2		2	TRIM3	11	6479370	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294	6479370	128527146	11325	19037											
ARFIP2	23647	broad.mit.edu	37	chr11	6500398	6500398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatgccccatttcttgAcgatgtcaaacttttctcca	6	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6500398A>G	ENST00000254584.2	-	4	370	c.287T>C	c.(286-288)gTc>gCc	p.V96A	ARFIP2_ENST00000396777.3_Missense_Mutation_p.V96A|ARFIP2_ENST00000525235.1_Missense_Mutation_p.V96A|ARFIP2_ENST00000423813.2_Missense_Mutation_p.V58A|ARFIP2_ENST00000445086.2_Intron	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	96					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCATTTCTTGACGATGTCAAA	0.502													False	0	False	11:6500398	0	G	6500398	A	G	6500398	3	3	88	1	0	0	0	0	1	0	0	0	857	275	10	4	758	4	ARFIP2	11	6500398	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21028	6500398	128506118	11326	19038											
DNHD1	144132	broad.mit.edu	37	chr11	6523988	6523988	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgtcacacaggtctcAgcttgactatgaagttccca	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6523988A>C	ENST00000254579.6	+	4	1316	c.752A>C	c.(751-753)cAg>cCg	p.Q251P	DNHD1_ENST00000527990.2_Missense_Mutation_p.Q251P|DNHD1_ENST00000354685.3_Missense_Mutation_p.Q251P	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	251					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACAGGTCTCAGCTTGACTAT	0.498													False	0	False	11:6523988	0	C	6523988	A	C	6523988	3	2	88	1	0	0	0	0	1	0	0	0	4698	188	7	4	758	4	DNHD1	11	6523988	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23590	6523988	128482528	11327	19039											
DNHD1	144132	broad.mit.edu	37	chr11	6541262	6541262	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtcaactgtctcatgTgccctgtgttgaaaatatga	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6541262T>C	ENST00000254579.6	+	9	2279	c.1715T>C	c.(1714-1716)gTg>gCg	p.V572A	DNHD1_ENST00000527990.2_Missense_Mutation_p.V572A|DNHD1_ENST00000354685.3_Missense_Mutation_p.V572A	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	572					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGTCTCATGTGCCCTGTGTT	0.493													False	0	False	11:6541262	0	C	6541262	T	C	6541262	3	2	88	1	0	0	0	0	1	0	0	0	4698	1696	59	4	1741	4	DNHD1	11	6541262	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17274	6541262	128465254	11328	19040											
DNHD1	144132	broad.mit.edu	37	chr11	6587919	6587919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatcttgtgcagagagtAtcctgaactcgagacccgct	10	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6587919A>G	ENST00000254579.6	+	35	11873	c.11309A>G	c.(11308-11310)tAt>tGt	p.Y3770C	DNHD1_ENST00000527990.2_Missense_Mutation_p.Y3770C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3770					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCAGAGAGTATCCTGAACTC	0.527													False	0	False	11:6587919	0	G	6587919	A	G	6587919	3	3	88	1	0	0	0	0	1	0	0	0	4698	449	16	4	11448	4	DNHD1	11	6587919	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46657	6587919	128418597	11329	19041											
DNHD1	144132	broad.mit.edu	37	chr11	6588955	6588955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcccctggatgaaaacacGtatgctcccaccatgccctt	8	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6588955G>A	ENST00000254579.6	+	36	12780	c.12216G>A	c.(12214-12216)acG>acA	p.T4072T	DNHD1_ENST00000527990.2_Silent_p.T4072T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4072					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGAAAACACGTATGCTCCCA	0.592													False	0	False	11:6588955	0	A	6588955	G	A	6588955	2	1	88	1	0	0	0	0	0	0	0	1	4698	1132	40	1		1	DNHD1	11	6588955	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1036	6588955	128417561	11330	19042											
DNHD1	144132	broad.mit.edu	37	chr11	6592149	6592149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagacgagtccgacgccccGtggtcagtgctggggccaaa	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6592149G>A	ENST00000254579.6	+	42	13971	c.13407G>A	c.(13405-13407)ccG>ccA	p.P4469P	DNHD1_ENST00000527990.2_Silent_p.P4469P	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4469					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCGACGCCCCGTGGTCAGTGC	0.627													False	0	True	11:6592149	0	A	6592149	G	A	6592149	2	1	88	1	0	0	0	0	0	0	0	1	4698	1132	40	1		1	DNHD1	11	6592149	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3194	6592149	128414367	11331	19043											
RRP8	23378	broad.mit.edu	37	chr11	6621780	6621780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttcgaacatcctcaaagCggctgctgacctcagccact	9	14	2	1	rs146302834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6621780C>T	ENST00000254605.6	-	6	1304	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	RRP8_ENST00000534343.1_Missense_Mutation_p.R80H	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	396					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						ATCCTCAAAGCGGCTGCTGAC	0.498													False	0	False	11:6621780	0	T	6621780	C	T	6621780	3	4	88	1	0	0	0	0	1	0	0	0	13769	768	27	1	191	1	RRP8	11	6621780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29631	6621780	128384736	11332	19044											
RRP8	23378	broad.mit.edu	37	chr11	6622562	6622562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatcgggccccatccagcCgctgtgccatgcgggctcgc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6622562C>T	ENST00000254605.6	-	3	851	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	245					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CCCATCCAGCCGCTGTGCCAT	0.607													False	0	False	11:6622562	0	T	6622562	C	T	6622562	3	4	88	1	0	0	0	0	1	0	0	0	13769	652	23	1	656	1	RRP8	11	6622562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	782	6622562	128383954	11333	19045											
ILK	3611	broad.mit.edu	37	chr11	6630170	6630170	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attccatacaaggacacattCtggaaggggaccacccgcac	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6630170C>A	ENST00000396751.2	+	5	960	c.504C>A	c.(502-504)ttC>ttA	p.F168L	ILK_ENST00000420936.2_Missense_Mutation_p.F168L|ILK_ENST00000537806.1_Missense_Mutation_p.F34L|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000528995.1_Missense_Mutation_p.S136Y|ILK_ENST00000299421.4_Missense_Mutation_p.F168L	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	168					cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		AGGACACATTCTGGAAGGGGA	0.532													False	0	False	11:6630170	0	A	6630170	C	A	6630170	3	1	88	1	0	0	0	0	1	0	0	0	7763	912	32	3	522	3	ILK	11	6630170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7608	6630170	128376346	11334	19046											
TPP1	1200	broad.mit.edu	37	chr11	6637257	6637257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcagggaaggtagggCggaactggtgtcttccagag	19	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6637257C>T	ENST00000533371.1	-	8	1193	c.395G>A	c.(394-396)cGc>cAc	p.R132H	TPP1_ENST00000299427.6_Missense_Mutation_p.R375H			O14773	TPP1_HUMAN	tripeptidyl peptidase I	375					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GAAGGTAGGGCGGAACTGGTG	0.488													False	0	True	11:6637257	0	T	6637257	C	T	6637257	3	4	88	1	0	0	0	0	1	0	0	0	16494	768	27	1	587	1	TPP1	11	6637257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7087	6637257	128369259	11335	19047											
TPP1	1200	broad.mit.edu	37	chr11	6637890	6637890	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagtcctcttggtagtAccagggctactgtagaccca	10	12	1	1	rs112046417		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6637890A>G	ENST00000533371.1	-	6	956		c.e6+1		TPP1_ENST00000299427.6_Splice_Site			O14773	TPP1_HUMAN	tripeptidyl peptidase I						bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		TCTTGGTAGTACCAGGGCTAC	0.582													False	0	False	11:6637890	0	G	6637890	A	G	6637890	5	3	88	1	0	0	0	0	0	0	1	0	16494	405	14	4	831	4	TPP1	11	6637890	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	633	6637890	128368626	11336	19048											
DCHS1	8642	broad.mit.edu	37	chr11	6643477	6643477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggctgtcagcgcacctgCcacacatggcttgccatctg	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6643477C>T	ENST00000299441.3	-	21	9841	c.9430G>A	c.(9430-9432)Gca>Aca	p.A3144T	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3144					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGCACCTGCCACACATGGC	0.657													False	0	True	11:6643477	0	T	6643477	C	T	6643477	3	4	88	1	0	0	0	0	1	0	0	0	4312	739	26	2	470	2	DCHS1	11	6643477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5587	6643477	128363039	11337	19049											
DCHS1	8642	broad.mit.edu	37	chr11	6643989	6643989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgcctgtgacattgggCcaggggctgcctcagccttg	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6643989C>T	ENST00000299441.3	-	21	9329	c.8918G>A	c.(8917-8919)gGc>gAc	p.G2973D		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2973					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACATTGGGCCAGGGGCTGC	0.637													False	0	True	11:6643989	0	T	6643989	C	T	6643989	3	4	88	1	0	0	0	0	1	0	0	0	4312	739	26	2	982	2	DCHS1	11	6643989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	512	6643989	128362527	11338	19050											
DCHS1	8642	broad.mit.edu	37	chr11	6644403	6644403	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcctcatctgtggcctgcAcgtgacccaagctgtggcca	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6644403A>G	ENST00000299441.3	-	21	8915	c.8504T>C	c.(8503-8505)gTg>gCg	p.V2835A		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2835	Cadherin 27.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGGCCTGCACGTGACCCAA	0.567													False	0	False	11:6644403	0	G	6644403	A	G	6644403	3	3	88	1	0	0	0	0	1	0	0	0	4312	159	6	4	1396	4	DCHS1	11	6644403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	414	6644403	128362113	11339	19051											
DCHS1	8642	broad.mit.edu	37	chr11	6644979	6644979	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagccctgatgggtcgcctGagctgacagtgaaacgcacg	14	11	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6644979G>A	ENST00000299441.3	-	21	8339	c.7928C>T	c.(7927-7929)tCa>tTa	p.S2643L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2643	Cadherin 25.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTCGCCTGAGCTGACAGT	0.597													False	0	False	11:6644979	0	A	6644979	G	A	6644979	3	1	88	1	0	0	0	0	1	0	0	0	4312	1294	45	2	1972	2	DCHS1	11	6644979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	576	6644979	128361537	11340	19052											
DCHS1	8642	broad.mit.edu	37	chr11	6645358	6645358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatgctgtagtccacagCggcatggctgcggcttccat	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6645358C>T	ENST00000299441.3	-	21	7960	c.7549G>A	c.(7549-7551)Gct>Act	p.A2517T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2517	Cadherin 24.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A2517T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGTCCACAGCGGCATGGCTG	0.632													False	0	False	11:6645358	0	T	6645358	C	T	6645358	3	4	88	1	0	0	0	0	1	0	0	0	4312	768	27	1	2351	1	DCHS1	11	6645358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	379	6645358	128361158	11341	19053											
DCHS1	8642	broad.mit.edu	37	chr11	6647793	6647793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttcttacctgtactaggCtggatggagaatgtcccttt	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6647793C>T	ENST00000299441.3	-	15	6765	c.6354G>A	c.(6352-6354)caG>caA	p.Q2118Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2118	Cadherin 20.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTACTAGGCTGGATGGAGA	0.542													False	0	True	11:6647793	0	T	6647793	C	T	6647793	2	4	88	1	0	0	0	0	0	0	0	1	4312	796	28	2		2	DCHS1	11	6647793	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2435	6647793	128358723	11342	19054											
DCHS1	8642	broad.mit.edu	37	chr11	6651036	6651036	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagcgacactgacggtcagGacctgcgtggccgagcgcgg	16	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6651036G>A	ENST00000299441.3	-	11	5313	c.4902C>T	c.(4900-4902)gtC>gtT	p.V1634V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1634	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V1634V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACGGTCAGGACCTGCGTGG	0.642													False	0	False	11:6651036	0	A	6651036	G	A	6651036	2	1	88	1	0	0	0	0	0	0	0	1	4312	1161	41	2		2	DCHS1	11	6651036	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3243	6651036	128355480	11343	19055											
DCHS1	8642	broad.mit.edu	37	chr11	6651110	6651110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacgtgctcagctcgttgttCgcggtccaacggccgcacca	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6651110C>T	ENST00000299441.3	-	11	5239	c.4828G>A	c.(4828-4830)Gaa>Aaa	p.E1610K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1610	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCGTTGTTCGCGGTCCAAC	0.657													False	0	False	11:6651110	0	T	6651110	C	T	6651110	3	4	88	1	0	0	0	0	1	0	0	0	4312	893	31	1	5112	1	DCHS1	11	6651110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	6651110	128355406	11344	19056											
DCHS1	8642	broad.mit.edu	37	chr11	6652301	6652301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcaccagcagctggaGgctggcacttcgaggagggc	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6652301G>T	ENST00000299441.3	-	9	4324	c.3913C>A	c.(3913-3915)Ctc>Atc	p.L1305I	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1305	Cadherin 12.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAGCTGGAGGCTGGCACTT	0.617													False	0	False	11:6652301	0	T	6652301	G	T	6652301	3	4	88	1	0	0	0	0	1	0	0	0	4312	1000	35	3	6035	3	DCHS1	11	6652301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1191	6652301	128354215	11345	19057											
DCHS1	8642	broad.mit.edu	37	chr11	6661247	6661247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcatagtccagtgaggcaGccgtagtgataatgcctgag	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6661247G>A	ENST00000299441.3	-	2	2009	c.1598C>T	c.(1597-1599)gCt>gTt	p.A533V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	533	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGAGGCAGCCGTAGTGAT	0.587													False	0	False	11:6661247	0	A	6661247	G	A	6661247	3	1	88	1	0	0	0	0	1	0	0	0	4312	971	34	2	8378	2	DCHS1	11	6661247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8946	6661247	128345269	11346	19058											
DCHS1	8642	broad.mit.edu	37	chr11	6662109	6662109	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcatggtcattgatgtccaGcagtgtcacgtccagcaggg	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6662109G>T	ENST00000299441.3	-	2	1147	c.736C>A	c.(736-738)Ctg>Atg	p.L246M		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	246	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGATGTCCAGCAGTGTCACG	0.607													False	0	False	11:6662109	0	T	6662109	G	T	6662109	3	4	88	1	0	0	0	0	1	0	0	0	4312	962	34	3	9240	3	DCHS1	11	6662109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	862	6662109	128344407	11347	19059											
OR2AG2	338755	broad.mit.edu	37	chr11	6790159	6790159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccccaccaagatgaagccGcttcccaaggtggagttccg	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6790159G>A	ENST00000338569.2	-	1	127	c.30C>T	c.(28-30)agC>agT	p.S10S		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S10S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGATGAAGCCGCTTCCCAAGG	0.443													False	0	False	11:6790159	0	A	6790159	G	A	6790159	2	1	88	1	0	0	0	0	0	0	0	1	11053	1078	38	1		1	OR2AG2	11	6790159	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128050	6790159	128216357	11348	19060											
OR6A2	8590	broad.mit.edu	37	chr11	6816484	6816484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaacctccagcccaagaGccagcagccatctgcacaca	6	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816484G>A	ENST00000332601.3	-	1	644	c.456C>T	c.(454-456)ggC>ggT	p.G152G		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCCCAAGAGCCAGCAGCCA	0.498													False	0	False	11:6816484	0	A	6816484	G	A	6816484	2	1	88	1	0	0	0	0	0	0	0	1	11254	958	34	2		2	OR6A2	11	6816484	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26325	6816484	128190032	11349	19061											
OR6A2	8590	broad.mit.edu	37	chr11	6816737	6816737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cataccagatctccagaaagGacatattagctagaaaaaag	7	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816737G>A	ENST00000332601.3	-	1	391	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCCAGAAAGGACATATTAGC	0.438													False	0	False	11:6816737	0	A	6816737	G	A	6816737	3	1	88	1	0	0	0	0	1	0	0	0	11254	1174	41	2	784	2	OR6A2	11	6816737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253	6816737	128189779	11350	19062											
OR6A2	8590	broad.mit.edu	37	chr11	6816882	6816882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctgtagtggcgcaggagCagggaagcccagcaacacaa	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816882C>T	ENST00000332601.3	-	1	246	c.58G>A	c.(58-60)Gct>Act	p.A20T		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCGCAGGAGCAGGGAAGCCC	0.498													False	0	False	11:6816882	0	T	6816882	C	T	6816882	3	4	88	1	0	0	0	0	1	0	0	0	11254	710	25	2	929	2	OR6A2	11	6816882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	6816882	128189634	11351	19063											
OR10A5	144124	broad.mit.edu	37	chr11	6867249	6867249	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctttggggtagctgaAtgcttcctcctggctaccat	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6867249A>G	ENST00000299454.4	+	1	367	c.336A>G	c.(334-336)gaA>gaG	p.E112E	OR10A5_ENST00000379831.2_Silent_p.E116E			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGGTAGCTGAATGCTTCCTCC	0.532													False	0	False	11:6867249	0	G	6867249	A	G	6867249	2	3	88	1	0	0	0	0	0	0	0	1	10961	98	4	4		4	OR10A5	11	6867249	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50367	6867249	128139267	11352	19064											
OR2D2	120776	broad.mit.edu	37	chr11	6913006	6913006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaccaccatgaggtgggaGccacaggtagaaaatgcctt	12	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6913006G>A	ENST00000299459.2	-	1	824	c.726C>T	c.(724-726)ggC>ggT	p.G242G		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAGGTGGGAGCCACAGGTAG	0.428													False	0	False	11:6913006	0	A	6913006	G	A	6913006	2	1	88	1	0	0	0	0	0	0	0	1	11062	958	34	2		2	OR2D2	11	6913006	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45757	6913006	128093510	11353	19065											
OR2D2	120776	broad.mit.edu	37	chr11	6913214	6913214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaaaagaaatgagcaatgCtgttactgcctcggtagggt	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6913214C>T	ENST00000299459.2	-	1	616	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGAGCAATGCTGTTACTGCC	0.498													False	0	False	11:6913214	0	T	6913214	C	T	6913214	3	4	88	1	0	0	0	0	1	0	0	0	11062	797	28	2	411	2	OR2D2	11	6913214	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208	6913214	128093302	11354	19066											
NLRP14	338323	broad.mit.edu	37	chr11	7060067	7060067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatctttggcaagatgaacCtgaaggatctgtgtgagaga	12	5	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7060067C>A	ENST00000299481.4	+	2	596	c.250C>A	c.(250-252)Ctg>Atg	p.L84M		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	84	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAAGATGAACCTGAAGGATCT	0.502													False	0	False	11:7060067	0	A	7060067	C	A	7060067	3	1	88	1	0	0	0	0	1	0	0	0	10544	680	24	3	252	3	NLRP14	11	7060067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146853	7060067	127946449	11355	19067											
NLRP14	338323	broad.mit.edu	37	chr11	7063707	7063707	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggaaagcctgaagatttCcatcatggaattgcagagaa	11	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7063707C>T	ENST00000299481.4	+	4	796	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	150					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGAAGATTTCCATCATGGAA	0.418													False	0	True	11:7063707	0	T	7063707	C	T	7063707	2	4	88	1	0	0	0	0	0	0	0	1	10544	854	30	2		2	NLRP14	11	7063707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3640	7063707	127942809	11356	19068											
NLRP14	338323	broad.mit.edu	37	chr11	7079535	7079535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagctgtggtctcacagaGgctggctgtgagtatctttc	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7079535G>T	ENST00000299481.4	+	8	2833	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	829					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTCTCACAGAGGCTGGCTGTG	0.443													False	0	True	11:7079535	0	T	7079535	G	T	7079535	3	4	88	1	0	0	0	0	1	0	0	0	10544	991	35	3	2513	3	NLRP14	11	7079535	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15828	7079535	127926981	11357	19069											
RBMXL2	27288	broad.mit.edu	37	chr11	7110430	7110430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgagaaagccctcgaagccGagtttggcaagtatggccgc	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7110430G>A	ENST00000306904.5	+	1	266	c.79G>A	c.(79-81)Gag>Aag	p.E27K		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	27	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTCGAAGCCGAGTTTGGCAA	0.587													False	0	False	11:7110430	0	A	7110430	G	A	7110430	3	1	88	1	0	0	0	0	1	0	0	0	13233	1059	37	1	81	1	RBMXL2	11	7110430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30895	7110430	127896086	11358	19070											
RBMXL2	27288	broad.mit.edu	37	chr11	7111361	7111361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggccggagcgaccgctactCgaggggccgacaccgggtgg	18	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7111361C>T	ENST00000306904.5	+	1	1197	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	337	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCGCTACTCGAGGGGCCGA	0.662													False	0	False	11:7111361	0	T	7111361	C	T	7111361	3	4	88	1	0	0	0	0	1	0	0	0	13233	893	31	1	1012	1	RBMXL2	11	7111361	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	931	7111361	127895155	11359	19071											
RBMXL2	27288	broad.mit.edu	37	chr11	7111476	7111476	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcagggtgcccaggggCggaggccgtctaggaggccg	21	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7111476C>T	ENST00000306904.5	+	1	1312	c.1125C>T	c.(1123-1125)ggC>ggT	p.G375G		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	375	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGCCCAGGGGCGGAGGCCGTC	0.602													False	0	True	11:7111476	0	T	7111476	C	T	7111476	2	4	88	1	0	0	0	0	0	0	0	1	13233	755	27	1		1	RBMXL2	11	7111476	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115	7111476	127895040	11360	19072											
SYT9	143425	broad.mit.edu	37	chr11	7441783	7441783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcaagtaggcaacgagGctgagaggctgggcagagac	17	7	1	2	rs140525588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7441783G>A	ENST00000318881.6	+	6	1621	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	462						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AGGCAACGAGGCTGAGAGGCT	0.468													False	0	False	11:7441783	0	A	7441783	G	A	7441783	3	1	88	1	0	0	0	0	1	0	0	0	15563	1203	42	2	1406	2	SYT9	11	7441783	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330307	7441783	127564733	11361	19073											
PPFIBP2	8495	broad.mit.edu	37	chr11	7654163	7654163	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagaaatcactggaaacCaggtaagaggcctgggcatt	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7654163C>T	ENST00000299492.4	+	12	1522	c.1134C>T	c.(1132-1134)acC>acT	p.T378T	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Silent_p.T266T|PPFIBP2_ENST00000530181.1_Silent_p.T235T|PPFIBP2_ENST00000533792.1_Silent_p.T220T	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	378					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CACTGGAAACCAGGTAAGAGG	0.562													False	0	False	11:7654163	0	T	7654163	C	T	7654163	2	4	88	1	0	0	0	0	0	0	0	1	12383	581	21	2		2	PPFIBP2	11	7654163	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212380	7654163	127352353	11362	19074											
PPFIBP2	8495	broad.mit.edu	37	chr11	7672936	7672936	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggctatgcttctcaacaTccccccacaaaagacgctcc	5	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7672936T>C	ENST00000299492.4	+	23	2685	c.2297T>C	c.(2296-2298)aTc>aCc	p.I766T	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.I654T|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.I623T|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.I608T	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	766	SAM 3.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTTCTCAACATCCCCCCACAA	0.552													False	0	True	11:7672936	0	C	7672936	T	C	7672936	3	2	88	1	0	0	0	0	1	0	0	0	12383	1435	50	4	2383	4	PPFIBP2	11	7672936	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18773	7672936	127333580	11363	19075											
OVCH2	341277	broad.mit.edu	37	chr11	7721940	7721940	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcacattgtttctccaGcctcgaccacagcccaaacc	4	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7721940G>T	ENST00000454689.1	-	0	803				OVCH2_ENST00000534193.2_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TGTTTCTCCAGCCTCGACCAC	0.517													False	0	False	11:7721940	0	T	7721940	G	T	7721940	1	4	88	0	1	0	0	0	0	0	0	0	11392	958	34	3		3	OVCH2	11	7721940	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49004	7721940	127284576	11364	19076											
OR5P2	120065	broad.mit.edu	37	chr11	7818353	7818353	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatggagctgagaagaaattCtgataagaataattatgctg	11	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7818353C>A	ENST00000329434.2	-	1	167	c.137G>T	c.(136-138)aGa>aTa	p.R46I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAGAAATTCTGATAAGAAT	0.413													False	0	False	11:7818353	0	A	7818353	C	A	7818353	3	1	88	1	0	0	0	0	1	0	0	0	11246	913	32	3	835	3	OR5P2	11	7818353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96413	7818353	127188163	11365	19077											
OR5P3	120066	broad.mit.edu	37	chr11	7846775	7846775	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatggtcccatagaacagagTgactgcagtgaggtgggagg	16	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7846775T>G	ENST00000328375.1	-	1	744	c.745A>C	c.(745-747)Act>Cct	p.T249P	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGAACAGAGTGACTGCAGTG	0.507													False	0	False	11:7846775	0	G	7846775	T	G	7846775	3	3	88	1	0	0	0	0	1	0	0	0	11247	1696	59	4	193	4	OR5P3	11	7846775	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28422	7846775	127159741	11366	19078											
OR10A6	390093	broad.mit.edu	37	chr11	7950054	7950054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgggaacgtggaggctctgGtctagggagacgatgactat	16	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7950054G>A	ENST00000309838.2	-	1	155	c.156C>T	c.(154-156)gaC>gaT	p.D52D		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGAGGCTCTGGTCTAGGGAGA	0.478													False	0	False	11:7950054	0	A	7950054	G	A	7950054	2	1	88	1	0	0	0	0	0	0	0	1	10962	1252	44	2		2	OR10A6	11	7950054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103279	7950054	127056462	11367	19079											
NLRP10	338322	broad.mit.edu	37	chr11	7981244	7981244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgccttttccagtagAagcttccttttgtgttcctg	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7981244A>G	ENST00000328600.2	-	2	2076	c.1915T>C	c.(1915-1917)Tct>Cct	p.S639P		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	639							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTTCCAGTAGAAGCTTCCTTT	0.393													False	0	False	11:7981244	0	G	7981244	A	G	7981244	3	3	88	1	0	0	0	0	1	0	0	0	10540	246	9	4	56	4	NLRP10	11	7981244	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31190	7981244	127025272	11368	19080											
NLRP10	338322	broad.mit.edu	37	chr11	7982118	7982118	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaacctgacacgctttgtaGagaatgtcatttttctgtac	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7982118G>A	ENST00000328600.2	-	2	1202	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	347	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACGCTTTGTAGAGAATGTCAT	0.512													False	0	False	11:7982118	0	A	7982118	G	A	7982118	2	1	88	1	0	0	0	0	0	0	0	1	10540	929	33	2		2	NLRP10	11	7982118	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	874	7982118	127024398	11369	19081											
TUB	7275	broad.mit.edu	37	chr11	8117116	8117116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcagattctgactgtgGgccagtcagaccacgcccag	12	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8117116G>A	ENST00000305253.4	+	6	875	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	TUB_ENST00000534099.1_Missense_Mutation_p.G163S|TUB_ENST00000299506.2_Missense_Mutation_p.G157S	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	157					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TCTGACTGTGGGCCAGTCAGA	0.662													False	0	True	11:8117116	0	A	8117116	G	A	8117116	3	1	88	1	0	0	0	0	1	0	0	0	16826	1232	43	2	698	2	TUB	11	8117116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134998	8117116	126889400	11370	19082											
TUB	7275	broad.mit.edu	37	chr11	8118259	8118259	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcatgagctttgacgAggatgaggaggatgaggagg	18	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8118259A>C	ENST00000305253.4	+	7	999	c.758A>C	c.(757-759)gAg>gCg	p.E253A	TUB_ENST00000534099.1_Missense_Mutation_p.E204A|TUB_ENST00000299506.2_Missense_Mutation_p.E198A	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	198					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGCTTTGACGAGGATGAGGAG	0.542													False	0	False	11:8118259	0	C	8118259	A	C	8118259	3	2	88	1	0	0	0	0	1	0	0	0	16826	304	11	4	826	4	TUB	11	8118259	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1143	8118259	126888257	11371	19083											
RIC3	79608	broad.mit.edu	37	chr11	8159877	8159877	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttcccatcctctgcagtTgttttcccctttgagagctg	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8159877T>C	ENST00000343202.4	-	3	434	c.369A>G	c.(367-369)acA>acG	p.T123T	RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000539720.1_Silent_p.T74T|RIC3_ENST00000309737.6_Silent_p.T123T|RIC3_ENST00000425599.2_Silent_p.T123T	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	123						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CCTCTGCAGTTGTTTTCCCCT	0.433													False	0	False	11:8159877	0	C	8159877	T	C	8159877	2	2	88	1	0	0	0	0	0	0	0	1	13433	1799	63	4		4	RIC3	11	8159877	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41618	8159877	126846639	11372	19084											
LMO1	4004	broad.mit.edu	37	chr11	8248572	8248572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaggtgatacacgttgtcCcgggcccgcatcaccatctc	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8248572C>T	ENST00000335790.3	-	3	810	c.315G>A	c.(313-315)cgG>cgA	p.R105R	LMO1_ENST00000534484.1_Silent_p.R94R|LMO1_ENST00000428101.2_Silent_p.R104R	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	105	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		ACACGTTGTCCCGGGCCCGCA	0.632			"T, A"	TRD@	"T-ALL, neuroblastoma"	neuroblastoma							False	0	True	11:8248572	0	T	8248572	C	T	8248572	2	4	88	1	0	0	0	0	0	0	0	1	8904	610	22	2		2	LMO1	11	8248572	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88695	8248572	126757944	11373	19085											
STK33	65975	broad.mit.edu	37	chr11	8414220	8414220	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacatatcaaagttgtccTtactggttgcaggaaattgc	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8414220T>G	ENST00000447869.1	-	12	2300	c.1382A>C	c.(1381-1383)aAg>aCg	p.K461T	STK33_ENST00000358872.3_Missense_Mutation_p.K274T|STK33_ENST00000396673.1_Missense_Mutation_p.K395T|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000534493.1_Missense_Mutation_p.K420T|STK33_ENST00000315204.1_Missense_Mutation_p.K461T|STK33_ENST00000396672.1_Missense_Mutation_p.K461T			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	461						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AAAGTTGTCCTTACTGGTTGC	0.393													False	0	False	11:8414220	0	G	8414220	T	G	8414220	3	3	88	1	0	0	0	0	1	0	0	0	15382	1609	56	4	166	4	STK33	11	8414220	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	165648	8414220	126592296	11374	19086											
ST5	6764	broad.mit.edu	37	chr11	8717975	8717975	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgataaccaagacttaccCtttgcccgacactttcttag	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8717975C>A	ENST00000534127.1	-	21	3676	c.3291G>T	c.(3289-3291)aaG>aaT	p.K1097N	ST5_ENST00000357665.1_Splice_Site_p.K1097N|ST5_ENST00000313726.6_Splice_Site_p.K1097N|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000534278.1_Splice_Site_p.K288N|ST5_ENST00000526757.1_Splice_Site_p.K677N|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526099.1_Splice_Site_p.K610N|ST5_ENST00000530991.1_Splice_Site_p.K569N|ST5_ENST00000530438.1_Splice_Site_p.K677N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1097					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AAGACTTACCCTTTGCCCGAC	0.488													False	0	True	11:8717975	0	A	8717975	C	A	8717975	5	1	88	1	0	0	0	0	0	0	1	0	15302	695	24	3	134	3	ST5	11	8717975	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	303755	8717975	126288541	11375	19087											
ST5	6764	broad.mit.edu	37	chr11	8734225	8734225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctccagctccagcgtgCgatagctgggggcgcgcttc	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8734225C>T	ENST00000534127.1	-	12	2430	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	ST5_ENST00000357665.1_Missense_Mutation_p.R682H|ST5_ENST00000313726.6_Missense_Mutation_p.R682H|ST5_ENST00000526757.1_Missense_Mutation_p.R262H|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526099.1_Missense_Mutation_p.R195H|ST5_ENST00000530991.1_Missense_Mutation_p.R154H|ST5_ENST00000530438.1_Missense_Mutation_p.R262H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	682					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTCCAGCGTGCGATAGCTGGG	0.602													False	0	False	11:8734225	0	T	8734225	C	T	8734225	3	4	88	1	0	0	0	0	1	0	0	0	15302	768	27	1	1416	1	ST5	11	8734225	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16250	8734225	126272291	11376	19088											
ST5	6764	broad.mit.edu	37	chr11	8737215	8737215	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgaggctgtcttcatTgaggctggagggtgaggacg	19	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8737215T>C	ENST00000534127.1	-	9	2165	c.1780A>G	c.(1780-1782)Aat>Gat	p.N594D	ST5_ENST00000357665.1_Missense_Mutation_p.N594D|ST5_ENST00000313726.6_Missense_Mutation_p.N594D|ST5_ENST00000526757.1_Missense_Mutation_p.N174D|ST5_ENST00000526099.1_Missense_Mutation_p.N107D|ST5_ENST00000530991.1_Missense_Mutation_p.N66D|ST5_ENST00000530438.1_Missense_Mutation_p.N174D	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	594					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGTCTTCATTGAGGCTGGAG	0.657													False	0	False	11:8737215	0	C	8737215	T	C	8737215	3	2	88	1	0	0	0	0	1	0	0	0	15302	1812	63	4	1693	4	ST5	11	8737215	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2990	8737215	126269301	11377	19089											
ST5	6764	broad.mit.edu	37	chr11	8747727	8747727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggtacagggactggagaCtggatgcatcctcaaactca	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8747727C>T	ENST00000534127.1	-	7	1755	c.1370G>A	c.(1369-1371)aGt>aAt	p.S457N	ST5_ENST00000357665.1_Missense_Mutation_p.S457N|ST5_ENST00000313726.6_Missense_Mutation_p.S457N|ST5_ENST00000526757.1_Missense_Mutation_p.S37N|ST5_ENST00000530438.1_Missense_Mutation_p.S37N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	457					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGACTGGAGACTGGATGCATC	0.458													False	0	True	11:8747727	0	T	8747727	C	T	8747727	3	4	88	1	0	0	0	0	1	0	0	0	15302	565	20	2	2111	2	ST5	11	8747727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10512	8747727	126258789	11378	19090											
C11orf16	56673	broad.mit.edu	37	chr11	8950933	8950933	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggacttgcctcgggagtGgcctttatttgggcccggta	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8950933G>T	ENST00000326053.5	-	3	421	c.315C>A	c.(313-315)gcC>gcA	p.A105A	C11orf16_ENST00000525780.1_Silent_p.A105A|C11orf16_ENST00000528998.1_5'UTR	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	105										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CCTCGGGAGTGGCCTTTATTT	0.572													False	0	False	11:8950933	0	T	8950933	G	T	8950933	2	4	88	1	0	0	0	0	0	0	0	1	1639	1335	47	3		3	C11orf16	11	8950933	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203206	8950933	126055583	11379	19091											
NRIP3	56675	broad.mit.edu	37	chr11	9009763	9009763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagaggcccaagggacacGgggaccgcttcggagcttag	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9009763G>A	ENST00000309166.3	-	2	354	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	NRIP3_ENST00000531090.1_Missense_Mutation_p.R81C	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	81					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CAAGGGACACGGGGACCGCTT	0.493													False	0	True	11:9009763	0	A	9009763	G	A	9009763	3	1	88	1	0	0	0	0	1	0	0	0	10722	1116	39	1	508	1	NRIP3	11	9009763	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58830	9009763	125996753	11380	19092											
DENND5A	23258	broad.mit.edu	37	chr11	9164309	9164309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatttttgaagagccggggCgatttaaatccatgctggaa	11	7	0	2	rs145302750	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9164309C>T	ENST00000328194.3	-	21	3791	c.3471G>A	c.(3469-3471)tcG>tcA	p.S1157S	DENND5A_ENST00000530044.1_Silent_p.S1157S|DENND5A_ENST00000527700.1_Silent_p.S500S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1157	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGAGCCGGGGCGATTTAAATC	0.512													False	0	True	11:9164309	0	T	9164309	C	T	9164309	2	4	88	1	0	0	0	0	0	0	0	1	4466	755	27	1		1	DENND5A	11	9164309	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154546	9164309	125842207	11381	19093											
DENND5A	23258	broad.mit.edu	37	chr11	9166622	9166622	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacagcccagagttatcatgGccaatctggacagtagtaag	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9166622G>T	ENST00000328194.3	-	18	3362	c.3042C>A	c.(3040-3042)ggC>ggA	p.G1014G	DENND5A_ENST00000530044.1_Silent_p.G1014G|DENND5A_ENST00000527700.1_Silent_p.G357G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1014	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGTTATCATGGCCAATCTGGA	0.448													False	0	False	11:9166622	0	T	9166622	G	T	9166622	2	4	88	1	0	0	0	0	0	0	0	1	4466	1190	42	3		3	DENND5A	11	9166622	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2313	9166622	125839894	11382	19094											
DENND5A	23258	broad.mit.edu	37	chr11	9172287	9172287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagctggcatcagacttcCtacgttctgaatcaagaagt	10	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9172287C>A	ENST00000328194.3	-	14	2866	c.2546G>T	c.(2545-2547)aGg>aTg	p.R849M	DENND5A_ENST00000530044.1_Missense_Mutation_p.R849M|DENND5A_ENST00000527700.1_Missense_Mutation_p.R192M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	849	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCAGACTTCCTACGTTCTGA	0.433													False	0	False	11:9172287	0	A	9172287	C	A	9172287	3	1	88	1	0	0	0	0	1	0	0	0	4466	681	24	3	1357	3	DENND5A	11	9172287	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5665	9172287	125834229	11383	19095											
DENND5A	23258	broad.mit.edu	37	chr11	9200460	9200460	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaggattccttatcctggCtgggttggatgacaaacacc	10	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9200460C>A	ENST00000328194.3	-	7	1936	c.1616G>T	c.(1615-1617)aGc>aTc	p.S539I	DENND5A_ENST00000530044.1_Missense_Mutation_p.S539I	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	539	dDENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTATCCTGGCTGGGTTGGAT	0.433													False	0	True	11:9200460	0	A	9200460	C	A	9200460	3	1	88	1	0	0	0	0	1	0	0	0	4466	797	28	3	2315	3	DENND5A	11	9200460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28173	9200460	125806056	11384	19096											
TMEM41B	440026	broad.mit.edu	37	chr11	9335893	9335893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggtctctgctgccaggCgccgcgagaccccgcgtccc	14	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9335893C>T	ENST00000528080.1	-	1	434	c.96G>A	c.(94-96)gcG>gcA	p.A32A	TMEM41B_ENST00000533723.1_Silent_p.A32A|TMEM41B_ENST00000527813.1_Silent_p.A32A	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	32						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TGCTGCCAGGCGCCGCGAGAC	0.711													False	0	False	11:9335893	0	T	9335893	C	T	9335893	2	4	88	1	0	0	0	0	0	0	0	1	16247	755	27	1		1	TMEM41B	11	9335893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135433	9335893	125670623	11385	19097											
SWAP70	23075	broad.mit.edu	37	chr11	9746232	9746232	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acctgcttaagaagcttacaGaagctatgggaggaggttgg	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9746232G>A	ENST00000318950.6	+	4	545	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	SWAP70_ENST00000447399.2_Missense_Mutation_p.E90K	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	148						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GAAGCTTACAGAAGCTATGGG	0.303													False	0	False	11:9746232	0	A	9746232	G	A	9746232	3	1	88	1	0	0	0	0	1	0	0	0	15507	943	33	2	456	2	SWAP70	11	9746232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	410339	9746232	125260284	11386	19098											
SWAP70	23075	broad.mit.edu	37	chr11	9761736	9761736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttataccaacagatcagacaGcagatggaagaacaggttgc	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9761736G>T	ENST00000318950.6	+	9	1300	c.1197G>T	c.(1195-1197)caG>caT	p.Q399H	SWAP70_ENST00000447399.2_Missense_Mutation_p.Q341H	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	399						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AGATCAGACAGCAGATGGAAG	0.493													False	0	False	11:9761736	0	T	9761736	G	T	9761736	3	4	88	1	0	0	0	0	1	0	0	0	15507	962	34	3	1231	3	SWAP70	11	9761736	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15504	9761736	125244780	11387	19099											
SBF2	81846	broad.mit.edu	37	chr11	9874236	9874236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattaccttctgaataggcGgaagtcttctgctttctcga	9	9	4	1	rs143887793		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9874236G>A	ENST00000256190.8	-	21	2734	c.2597C>T	c.(2596-2598)cCg>cTg	p.P866L	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	866					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTGAATAGGCGGAAGTCTTCT	0.418													False	0	False	11:9874236	0	A	9874236	G	A	9874236	3	1	88	1	0	0	0	0	1	0	0	0	13939	1116	39	1	3032	1	SBF2	11	9874236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112500	9874236	125132280	11388	19100											
SBF2	81846	broad.mit.edu	37	chr11	10051375	10051375	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaattagactttccaaggaGacattcaggctgtccacata	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10051375G>A	ENST00000256190.8	-	5	587	c.450C>T	c.(448-450)gtC>gtT	p.V150V	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	150	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTTCCAAGGAGACATTCAGGC	0.408													False	0	False	11:10051375	0	A	10051375	G	A	10051375	2	1	88	1	0	0	0	0	0	0	0	1	13939	929	33	2		2	SBF2	11	10051375	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177139	10051375	124955141	11389	19101											
SBF2	81846	broad.mit.edu	37	chr11	10064430	10064430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagaaggttaggcatgaGcagtaatgtcgatctgagtc	12	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10064430G>A	ENST00000256190.8	-	3	377	c.240C>T	c.(238-240)tgC>tgT	p.C80C	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	80	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTAGGCATGAGCAGTAATGTC	0.443													False	0	False	11:10064430	0	A	10064430	G	A	10064430	2	1	88	1	0	0	0	0	0	0	0	1	13939	963	34	2		2	SBF2	11	10064430	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13055	10064430	124942086	11390	19102											
ADM	133	broad.mit.edu	37	chr11	10328148	10328148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagccacaagcacacggggCtccagcccccccgagtggaa	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10328148C>T	ENST00000528655.1	+	3	1135	c.518C>T	c.(517-519)gCt>gTt	p.A173V	ADM_ENST00000530439.1_Missense_Mutation_p.A105V|ADM_ENST00000525063.1_Missense_Mutation_p.A173V|ADM_ENST00000534464.1_Missense_Mutation_p.A126V|ADM_ENST00000278175.5_Missense_Mutation_p.A173V			P35318	ADML_HUMAN	adrenomedullin	173					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCACACGGGGCTCCAGCCCCC	0.672													False	0	True	11:10328148	0	T	10328148	C	T	10328148	3	4	88	1	0	0	0	0	1	0	0	0	321	797	28	2	528	2	ADM	11	10328148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	263718	10328148	124678368	11391	19103											
AMPD3	272	broad.mit.edu	37	chr11	10506432	10506432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgatgcaccccccaacctgGattacttggtccacatgcag	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10506432G>A	ENST00000444303.2	+	4	650	c.178G>A	c.(178-180)Gat>Aat	p.D60N	AMPD3_ENST00000396554.3_Missense_Mutation_p.D228N	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	219					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCCCAACCTGGATTACTTGGT	0.577													False	0	False	11:10506432	0	A	10506432	G	A	10506432	3	1	88	1	0	0	0	0	1	0	0	0	587	1174	41	2	720	2	AMPD3	11	10506432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178284	10506432	124500084	11392	19104											
LYVE1	10894	broad.mit.edu	37	chr11	10582264	10582264	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgtcactgacaataaattCtgttgtttgtgttgcagttt	8	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10582264C>A	ENST00000256178.3	-	4	639	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	LYVE1_ENST00000529598.1_Nonsense_Mutation_p.E57*|LYVE1_ENST00000531706.1_5'UTR|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	161					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		ACAATAAATTCTGTTGTTTGT	0.443													False	0	False	11:10582264	0	A	10582264	C	A	10582264	4	1	88	1	0	0	0	0	0	1	0	0	9192	922	32	3	499	3	LYVE1	11	10582264	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75832	10582264	124424252	11393	19105											
MRVI1	10335	broad.mit.edu	37	chr11	10603427	10603427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcaccccttgctgtaggCttcttcctccatcctggcct	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10603427C>T	ENST00000547195.1	-	18	2574	c.2074G>A	c.(2074-2076)Gcc>Acc	p.A692T	MRVI1_ENST00000552103.1_Missense_Mutation_p.A692T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A775T|MRVI1_ENST00000421747.1_Missense_Mutation_p.A774T|MRVI1_ENST00000545852.1_Missense_Mutation_p.A468T|MRVI1_ENST00000558540.1_Missense_Mutation_p.A468T|MRVI1_ENST00000424001.1_Missense_Mutation_p.A468T|MRVI1_ENST00000541483.1_Missense_Mutation_p.A577T|MRVI1_ENST00000423302.2_Missense_Mutation_p.A783T|LYVE1_ENST00000531706.1_Intron|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000436272.1_Missense_Mutation_p.A756T|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000534266.2_Missense_Mutation_p.A468T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A692T	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	756					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTGCTGTAGGCTTCTTCCTCC	0.562													False	0	False	11:10603427	0	T	10603427	C	T	10603427	3	4	88	1	0	0	0	0	1	0	0	0	9920	797	28	2	403	2	MRVI1	11	10603427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21163	10603427	124403089	11394	19106											
CTR9	9646	broad.mit.edu	37	chr11	10772966	10772966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttgaccccatcatgtcgCggggctccatcgagattccc	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10772966C>T	ENST00000361367.2	+	1	433	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	3					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CATCATGTCGCGGGGCTCCAT	0.632													False	0	True	11:10772966	0	T	10772966	C	T	10772966	3	4	88	1	0	0	0	0	1	0	0	0	4049	759	27	1	9	1	CTR9	11	10772966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169539	10772966	124233550	11395	19107											
CTR9	9646	broad.mit.edu	37	chr11	10783548	10783548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagagcctatactattgatCctagcaaccctatggtattg	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10783548C>T	ENST00000361367.2	+	7	1222	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	266					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TACTATTGATCCTAGCAACCC	0.328													False	0	False	11:10783548	0	T	10783548	C	T	10783548	3	4	88	1	0	0	0	0	1	0	0	0	4049	855	30	2	822	2	CTR9	11	10783548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10582	10783548	124222968	11396	19108											
CTR9	9646	broad.mit.edu	37	chr11	10789414	10789414	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaaacaagaatggggtcCtgggcagaagaagtttgaga	15	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10789414C>A	ENST00000361367.2	+	14	2174	c.1748C>A	c.(1747-1749)cCt>cAt	p.P583H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	583					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GAATGGGGTCCTGGGCAGAAG	0.418													False	0	False	11:10789414	0	A	10789414	C	A	10789414	3	1	88	1	0	0	0	0	1	0	0	0	4049	681	24	3	1802	3	CTR9	11	10789414	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5866	10789414	124217102	11397	19109											
CTR9	9646	broad.mit.edu	37	chr11	10793106	10793106	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttagatacttcagttattTgagtaaagtgggagataaaa	9	2	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10793106T>C	ENST00000361367.2	+	19	2813	c.2387T>C	c.(2386-2388)tTg>tCg	p.L796S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	796					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTCAGTTATTTGAGTAAAGTG	0.328													False	0	True	11:10793106	0	C	10793106	T	C	10793106	3	2	88	1	0	0	0	0	1	0	0	0	4049	1821	63	4	2461	4	CTR9	11	10793106	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3692	10793106	124213410	11398	19110											
EIF4G2	1982	broad.mit.edu	37	chr11	10823295	10823295	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgggataagagtccctgactCtggttatggtagagctggct	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10823295C>T	ENST00000526148.1	-	14	1836	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	EIF4G2_ENST00000396525.2_Intron|EIF4G2_ENST00000339995.5_Silent_p.Q442Q|EIF4G2_ENST00000525681.1_Silent_p.Q442Q	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	442					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.Q442H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTCCCTGACTCTGGTTATGGT	0.438													False	0	False	11:10823295	0	T	10823295	C	T	10823295	2	4	88	1	0	0	0	0	0	0	0	1	5069	912	32	2		2	EIF4G2	11	10823295	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30189	10823295	124183221	11399	19111											
DKK3	27122	broad.mit.edu	37	chr11	11986231	11986231	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacacatacaccaggctgTggctggggagagatgggaca	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:11986231T>G	ENST00000396505.2	-	8	1071	c.833A>C	c.(832-834)cAc>cCc	p.H278P	DKK3_ENST00000525493.1_Missense_Mutation_p.H292P|DKK3_ENST00000326932.4_Missense_Mutation_p.H278P|DKK3_ENST00000450094.2_Missense_Mutation_p.H250P|DKK3_ENST00000527132.1_Intron	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	278	DKK-type Cys-2.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CACCAGGCTGTGGCTGGGGAG	0.617													False	0	False	11:11986231	0	G	11986231	T	G	11986231	3	3	88	1	0	0	0	0	1	0	0	0	4576	1696	59	4	223	4	DKK3	11	11986231	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1162936	11986231	123020285	11400	19112											
MICAL2	9645	broad.mit.edu	37	chr11	12246330	12246330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggcgcagtgggttggccCtgtgtgccatcatccaccgc	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12246330C>A	ENST00000256194.4	+	13	1939	c.1651C>A	c.(1651-1653)Ctg>Atg	p.L551M	MICAL2_ENST00000537344.1_Missense_Mutation_p.L551M|MICAL2_ENST00000379612.3_Missense_Mutation_p.L551M|MICAL2_ENST00000527546.1_Missense_Mutation_p.L551M|MICAL2_ENST00000342902.5_Missense_Mutation_p.L551M	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	551	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGGTTGGCCCTGTGTGCCAT	0.647													False	0	True	11:12246330	0	A	12246330	C	A	12246330	3	1	88	1	0	0	0	0	1	0	0	0	9637	680	24	3	1693	3	MICAL2	11	12246330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	260099	12246330	122760186	11401	19113											
MICAL2	9645	broad.mit.edu	37	chr11	12264276	12264276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaacattaaggagaaggCggctcaccttgcctccatgt	10	10	1	2	rs146142372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12264276C>T	ENST00000256194.4	+	20	2903	c.2615C>T	c.(2614-2616)gCg>gTg	p.A872V	MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.A872V	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	872						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAGGAGAAGGCGGCTCACCTT	0.517													False	0	False	11:12264276	0	T	12264276	C	T	12264276	3	4	88	1	0	0	0	0	1	0	0	0	9637	768	27	1	2685	1	MICAL2	11	12264276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17946	12264276	122742240	11402	19114											
MICALCL	84953	broad.mit.edu	37	chr11	12341278	12341278	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctcagagcacaggtaacaGaggcttcctcttctgcctct	8	15	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12341278G>A	ENST00000256186.2	+	4	1753	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	488					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ACAGGTAACAGAGGCTTCCTC	0.458													False	0	False	11:12341278	0	A	12341278	G	A	12341278	3	1	88	1	0	0	0	0	1	0	0	0	9639	943	33	2	1472	2	MICALCL	11	12341278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77002	12341278	122665238	11403	19115											
MICALCL	84953	broad.mit.edu	37	chr11	12371470	12371470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattaatgcgatatgagtcGgagctcctaatcatgtaagt	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12371470G>A	ENST00000256186.2	+	7	2106	c.1815G>A	c.(1813-1815)tcG>tcA	p.S605S		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	605					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.S605S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GATATGAGTCGGAGCTCCTAA	0.473													False	0	False	11:12371470	0	A	12371470	G	A	12371470	2	1	88	1	0	0	0	0	0	0	0	1	9639	1103	39	1		1	MICALCL	11	12371470	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30192	12371470	122635046	11404	19116											
TEAD1	7003	broad.mit.edu	37	chr11	12901216	12901216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacctgcctggtagccatgCgttatgtattaagttggtgt	11	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12901216C>T	ENST00000526600.1	+	1	227	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000361985.2_Intron|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000361905.4_Intron			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	0					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGTAGCCATGCGTTATGTATT	0.483													False	0	False	11:12901216	0	T	12901216	C	T	12901216	3	4	88	1	0	0	0	0	1	0	0	0	15820	783	27	1		1	TEAD1	11	12901216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	529746	12901216	122105300	11405	19117											
ARNTL	406	broad.mit.edu	37	chr11	13378325	13378325	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagatgaccctcatggaagGtaccatgaacctagtaattt	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13378325G>A	ENST00000389708.3	+	6	534		c.e6+1		ARNTL_ENST00000403290.1_Splice_Site|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like						circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CTCATGGAAGGTACCATGAAC	0.398													False	0	False	11:13378325	0	A	13378325	G	A	13378325	5	1	88	1	0	0	0	0	0	0	1	0	971	1275	44	2	201	2	ARNTL	11	13378325	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	477109	13378325	121628191	11406	19118											
BTBD10	84280	broad.mit.edu	37	chr11	13438716	13438716	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacactcaccagaatcgctcGaaacacagtggaaccaattc	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13438716G>A	ENST00000278174.5	-	5	921	c.676C>T	c.(676-678)Cga>Tga	p.R226*	BTBD10_ENST00000528120.1_Nonsense_Mutation_p.R178*|BTBD10_ENST00000530907.1_Nonsense_Mutation_p.R234*	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	226	BTB.					nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		AGAATCGCTCGAAACACAGTG	0.418													False	0	True	11:13438716	0	A	13438716	G	A	13438716	4	1	88	1	0	0	0	0	0	1	0	0	1545	1066	37	1	771	1	BTBD10	11	13438716	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60391	13438716	121567800	11407	19119											
FAR1	84188	broad.mit.edu	37	chr11	13743352	13743352	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acaagtaattcttgggtttgGaatactgagaatgtcaatat	9	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13743352G>T	ENST00000532502.1	+	1	1903	c.75G>T	c.(73-75)tgG>tgT	p.W25C	FAR1_ENST00000354817.3_Missense_Mutation_p.W401C			Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	401					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CTTGGGTTTGGAATACTGAGA	0.303													False	0	False	11:13743352	0	T	13743352	G	T	13743352	3	4	88	1	0	0	0	0	1	0	0	0	5714	1183	41	3	1237	3	FAR1	11	13743352	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	304636	13743352	121263164	11408	19120											
SPON1	10418	broad.mit.edu	37	chr11	14284446	14284446	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatccatccatccaaaagCtacgctggagggaggcccga	11	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14284446C>T	ENST00000310358.7	+	0	2720				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CATCCAAAAGCTACGCTGGAG	0.577													False	0	False	11:14284446	0	T	14284446	C	T	14284446	1	4	88	0	1	0	0	0	0	0	0	0	15164	796	28	2		2	SPON1	11	14284446	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	541094	14284446	120722070	11409	19121											
COPB1	1315	broad.mit.edu	37	chr11	14502316	14502316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacataccacaggaataaCatttgcagccatatctggaa	6	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14502316C>T	ENST00000249923.3	-	10	1501	c.1201G>A	c.(1201-1203)Gtt>Att	p.V401I	COPB1_ENST00000439561.2_Missense_Mutation_p.V401I	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	401					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ACAGGAATAACATTTGCAGCC	0.323													False	0	False	11:14502316	0	T	14502316	C	T	14502316	3	4	88	1	0	0	0	0	1	0	0	0	3751	478	17	2	1712	2	COPB1	11	14502316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217870	14502316	120504200	11410	19122											
COPB1	1315	broad.mit.edu	37	chr11	14504589	14504589	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacttacctgtagtactcGttcatgagcaggatgctctt	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14504589G>A	ENST00000249923.3	-	8	1246	c.946C>T	c.(946-948)Cga>Tga	p.R316*	COPB1_ENST00000439561.2_Nonsense_Mutation_p.R316*	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	316					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGTAGTACTCGTTCATGAGCA	0.333													False	0	False	11:14504589	0	A	14504589	G	A	14504589	4	1	88	1	0	0	0	0	0	1	0	0	3751	1153	40	1	1975	1	COPB1	11	14504589	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2273	14504589	120501927	11411	19123											
COPB1	1315	broad.mit.edu	37	chr11	14510081	14510081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgcagaatgtctccaAatgtttgaacttgatcaatg	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14510081A>G	ENST00000249923.3	-	6	956	c.656T>C	c.(655-657)tTt>tCt	p.F219S	COPB1_ENST00000439561.2_Missense_Mutation_p.F219S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	219					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AATGTCTCCAAATGTTTGAAC	0.313													False	0	True	11:14510081	0	G	14510081	A	G	14510081	3	3	88	1	0	0	0	0	1	0	0	0	3751	14	1	4	2273	4	COPB1	11	14510081	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5492	14510081	120496435	11412	19124											
PSMA1	5682	broad.mit.edu	37	chr11	14535242	14535242	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaatgtgagggcccaTatcctacaaatagaaataaa	8	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14535242T>C	ENST00000530457.1	-	7	873	c.343A>G	c.(343-345)Atg>Gtg	p.M115V	PSMA1_ENST00000555531.1_Missense_Mutation_p.I120M|PSMA1_ENST00000396394.2_Missense_Mutation_p.M140V|PSMA1_ENST00000396393.1_Missense_Mutation_p.M140V|PSMA1_ENST00000419365.2_Missense_Mutation_p.I120M|PSMA1_ENST00000418988.2_Missense_Mutation_p.M146V			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	140					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TGAGGGCCCATATCCTACAAA	0.328													False	0	False	11:14535242	0	C	14535242	T	C	14535242	3	2	88	1	0	0	0	0	1	0	0	0	12742	1406	49	4	389	4	PSMA1	11	14535242	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25161	14535242	120471274	11413	19125											
PDE3B	5140	broad.mit.edu	37	chr11	14880590	14880590	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctatatttctttttaggCagttttatacaatgacagat	5	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14880590C>T	ENST00000282096.4	+	13	2875	c.2522C>T	c.(2521-2523)gCa>gTa	p.A841V	PDE3B_ENST00000455098.2_Splice_Site_p.A790V	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	841	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTTTTTAGGCAGTTTTATAC	0.333													False	0	False	11:14880590	0	T	14880590	C	T	14880590	5	4	88	1	0	0	0	0	0	0	1	0	11706	724	25	2	2572	2	PDE3B	11	14880590	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	345348	14880590	120125926	11414	19126											
CYP2R1	120227	broad.mit.edu	37	chr11	14902107	14902107	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctccaaaaatgatcagaTtggttatgtttgaaacagca	8	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14902107T>G	ENST00000334636.5	-	3	621	c.575A>C	c.(574-576)aAt>aCt	p.N192T	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	192					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AATGATCAGATTGGTTATGTT	0.343													False	0	False	11:14902107	0	G	14902107	T	G	14902107	3	3	88	1	0	0	0	0	1	0	0	0	4198	1493	52	4	942	4	CYP2R1	11	14902107	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21517	14902107	120104409	11415	19127											
CALCB	797	broad.mit.edu	37	chr11	15096342	15096342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcagcctccaggcggcGccattcaggtgagacagcct	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15096342G>A	ENST00000523376.1	+	7	1373	c.111G>A	c.(109-111)gcG>gcA	p.A37A	CALCB_ENST00000533448.1_Silent_p.A26A|CALCB_ENST00000324229.6_Silent_p.A26A			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	26					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TCCAGGCGGCGCCATTCAGGT	0.622											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:15096342	0	A	15096342	G	A	15096342	2	1	88	1	0	0	0	0	0	0	0	1	2596	1074	38	1		1	CALCB	11	15096342	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194235	15096342	119910174	11416	19128											
INSC	387755	broad.mit.edu	37	chr11	15134050	15134050	+	Missense_Mutation	SNP	G	G	T													tggcaatggagaggcggccaGcgaaggtccaggtggctggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15134050G>T	ENST00000379554.3	+	1	81	c.35G>T	c.(34-36)aGc>aTc	p.S12I		NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	12					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GAGGCGGCCAGCGAAGGTCCA	0.607													False	0	False	11:15134050	0	T	15134050	G	T	15134050	3	4	88	1	0	0	0	0	1	0	0	0	7814	971	34	3	37	3	INSC	11	15134050	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37708	15134050	119872466	11417	19129	218	2									
INSC	387755	broad.mit.edu	37	chr11	15134052	15134052	+	Missense_Mutation	SNP	G	G	A													gcaatggagaggcggccagcGaaggtccaggtggctggggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15134052G>A	ENST00000379554.3	+	1	83	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K		NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	13					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGCGGCCAGCGAAGGTCCAGG	0.602													False	0	False	11:15134052	0	A	15134052	G	A	15134052	3	1	88	1	0	0	0	0	1	0	0	0	7814	1059	37	1	39	1	INSC	11	15134052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	15134052	119872464	11418	19130	218	2									
INSC	387755	broad.mit.edu	37	chr11	15212360	15212360	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgccgcatcatagccaaGgtgagcttcatggttaggga	13	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15212360G>T	ENST00000379554.3	+	6	880	c.834G>T	c.(832-834)aaG>aaT	p.K278N	INSC_ENST00000528567.1_Splice_Site_p.K231N|INSC_ENST00000530161.1_Splice_Site_p.K231N|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Splice_Site_p.K231N|INSC_ENST00000525218.1_Splice_Site_p.K231N|INSC_ENST00000424273.1_Splice_Site_p.K231N	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	278					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCATAGCCAAGGTGAGCTTCA	0.537													False	0	False	11:15212360	0	T	15212360	G	T	15212360	5	4	88	1	0	0	0	0	0	0	1	0	7814	1014	35	3	856	3	INSC	11	15212360	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78308	15212360	119794156	11419	19131											
INSC	387755	broad.mit.edu	37	chr11	15260573	15260573	+	Missense_Mutation	SNP	G	G	A													agctgcagtgaccctggctcGtctcagccgagacccagatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15260573G>A	ENST00000379554.3	+	11	1533	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	INSC_ENST00000528567.1_Missense_Mutation_p.R449H|INSC_ENST00000530161.1_Missense_Mutation_p.R449H|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.R449H|INSC_ENST00000525218.1_Missense_Mutation_p.R407H|INSC_ENST00000424273.1_Missense_Mutation_p.R407H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	496					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACCCTGGCTCGTCTCAGCCGA	0.607													False	0	False	11:15260573	0	A	15260573	G	A	15260573	3	1	88	1	0	0	0	0	1	0	0	0	7814	1145	40	1	1529	1	INSC	11	15260573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48213	15260573	119745943	11420	19132	219	2									
INSC	387755	broad.mit.edu	37	chr11	15260581	15260581	+	Nonsense_Mutation	SNP	C	C	T													tgaccctggctcgtctcagcCgagacccagatgtggcacgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15260581C>T	ENST00000379554.3	+	11	1541	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	INSC_ENST00000528567.1_Nonsense_Mutation_p.R452*|INSC_ENST00000530161.1_Nonsense_Mutation_p.R452*|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Nonsense_Mutation_p.R452*|INSC_ENST00000525218.1_Nonsense_Mutation_p.R410*|INSC_ENST00000424273.1_Nonsense_Mutation_p.R410*	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	499					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCGTCTCAGCCGAGACCCAGA	0.622													False	0	False	11:15260581	0	T	15260581	C	T	15260581	4	4	88	1	0	0	0	0	0	1	0	0	7814	644	23	1	1537	1	INSC	11	15260581	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	15260581	119745935	11421	19133	219	2									
SOX6	55553	broad.mit.edu	37	chr11	16007925	16007925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcctgctcttcataatAaggttgcttctcctggttgg	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16007925A>G	ENST00000352083.6	-	15	2085	c.2008T>C	c.(2008-2010)Tat>Cat	p.Y670H	SOX6_ENST00000316399.6_Missense_Mutation_p.Y650H|SOX6_ENST00000528252.1_Missense_Mutation_p.Y643H|SOX6_ENST00000527619.1_Missense_Mutation_p.Y646H|SOX6_ENST00000528429.1_Missense_Mutation_p.Y670H|SOX6_ENST00000396356.3_Missense_Mutation_p.Y650H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	670					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCTTCATAATAAGGTTGCTTC	0.438													False	0	False	11:16007925	0	G	16007925	A	G	16007925	3	3	88	1	0	0	0	0	1	0	0	0	15035	362	13	4	486	4	SOX6	11	16007925	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	747344	16007925	118998591	11422	19134											
SOX6	55553	broad.mit.edu	37	chr11	16077436	16077436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgctggccagctgagcGgcatagagctgctgcaaaac	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16077436G>A	ENST00000352083.6	-	10	1190	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	SOX6_ENST00000316399.6_Silent_p.A371A|SOX6_ENST00000528252.1_Silent_p.A330A|SOX6_ENST00000527619.1_Silent_p.A333A|SOX6_ENST00000528429.1_Silent_p.A371A|SOX6_ENST00000396356.3_Silent_p.A371A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	371					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCAGCTGAGCGGCATAGAGCT	0.448													False	0	False	11:16077436	0	A	16077436	G	A	16077436	2	1	88	1	0	0	0	0	0	0	0	1	15035	1103	39	1		1	SOX6	11	16077436	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69511	16077436	118929080	11423	19135											
C11orf58	10944	broad.mit.edu	37	chr11	16766172	16766172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctagcaattgggaggcaGcagacttgggtaatgaagag	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16766172G>A	ENST00000228136.4	+	2	466	c.88G>A	c.(88-90)Gca>Aca	p.A30T	C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000527893.1_3'UTR|C11orf58_ENST00000525684.1_Missense_Mutation_p.A30T			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	30										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						TTGGGAGGCAGCAGACTTGGG	0.348													False	0	False	11:16766172	0	A	16766172	G	A	16766172	3	1	88	1	0	0	0	0	1	0	0	0	1659	971	34	2	94	2	C11orf58	11	16766172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	688736	16766172	118240344	11424	19136											
PLEKHA7	144100	broad.mit.edu	37	chr11	16811333	16811333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactcacagggaaggtcgCcttgctgctttcggcattga	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16811333C>T	ENST00000355661.3	-	22	3155	c.3145G>A	c.(3145-3147)Gcg>Acg	p.A1049T	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.A1050T|PLEKHA7_ENST00000532079.1_Silent_p.R55R|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.A1049T|PLEKHA7_ENST00000332954.4_5'UTR			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1049					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGGAAGGTCGCCTTGCTGCTT	0.612													False	0	False	11:16811333	0	T	16811333	C	T	16811333	3	4	88	1	0	0	0	0	1	0	0	0	12130	739	26	2	228	2	PLEKHA7	11	16811333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45161	16811333	118195183	11425	19137											
PLEKHA7	144100	broad.mit.edu	37	chr11	16823313	16823313	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtgctggggctggtctcGgtactgctccatctgtctgt	13	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16823313G>A	ENST00000355661.3	-	16	2219	c.2209C>T	c.(2209-2211)Cga>Tga	p.R737*	PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R737*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	737					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGCTGGTCTCGGTACTGCTCC	0.557													False	0	False	11:16823313	0	A	16823313	G	A	16823313	4	1	88	1	0	0	0	0	0	1	0	0	12130	1124	39	1	1188	1	PLEKHA7	11	16823313	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11980	16823313	118183203	11426	19138											
PLEKHA7	144100	broad.mit.edu	37	chr11	16847918	16847918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcggctggcgagtaCggagacctggccttgctccg	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16847918C>T	ENST00000355661.3	-	10	1102	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	PLEKHA7_ENST00000448080.2_Silent_p.P364P|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.P364P			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	364					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTGGCGAGTACGGAGACCTGG	0.607													False	0	False	11:16847918	0	T	16847918	C	T	16847918	2	4	88	1	0	0	0	0	0	0	0	1	12130	523	19	1		1	PLEKHA7	11	16847918	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24605	16847918	118158598	11427	19139											
PLEKHA7	144100	broad.mit.edu	37	chr11	16863183	16863183	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggtgtcggcactgaaGtagtaggtcctcatgcctga	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16863183G>T	ENST00000355661.3	-	9	793	c.783C>A	c.(781-783)taC>taA	p.Y261*	PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.Y261*|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.Y261*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	261	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGGCACTGAAGTAGTAGGTCC	0.577													False	0	False	11:16863183	0	T	16863183	G	T	16863183	4	4	88	1	0	0	0	0	0	1	0	0	12130	1024	36	3	2642	3	PLEKHA7	11	16863183	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15265	16863183	118143333	11428	19140											
PLEKHA7	144100	broad.mit.edu	37	chr11	16877362	16877362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctcaccttgggtccaggCttggcctccagggtggaggc	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16877362C>A	ENST00000355661.3	-	5	415	c.405G>T	c.(403-405)aaG>aaT	p.K135N	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.K135N|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.K135N			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	135					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGGTCCAGGCTTGGCCTCCA	0.522													False	0	False	11:16877362	0	A	16877362	C	A	16877362	3	1	88	1	0	0	0	0	1	0	0	0	12130	796	28	3	3036	3	PLEKHA7	11	16877362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14179	16877362	118129154	11429	19141											
PIK3C2A	5286	broad.mit.edu	37	chr11	17141433	17141433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccatttccagtttggggCgcttgctaatattttaggaa	9	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17141433C>T	ENST00000265970.7	-	15	2745	c.2746G>A	c.(2746-2748)Gcc>Acc	p.A916T	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A536T|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	916					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.A916S(1)|p.A916T(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CAGTTTGGGGCGCTTGCTAAT	0.363													False	0	True	11:17141433	0	T	17141433	C	T	17141433	3	4	88	1	0	0	0	0	1	0	0	0	11978	768	27	1	2386	1	PIK3C2A	11	17141433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264071	17141433	117865083	11430	19142											
PIK3C2A	5286	broad.mit.edu	37	chr11	17150888	17150888	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaactttgcccaaagcTtctggtccctttctctgctt	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17150888T>G	ENST00000265970.7	-	12	2357	c.2358A>C	c.(2356-2358)gaA>gaC	p.E786D	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E406D|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	786					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TGCCCAAAGCTTCTGGTCCCT	0.383													False	0	False	11:17150888	0	G	17150888	T	G	17150888	3	3	88	1	0	0	0	0	1	0	0	0	11978	1606	56	4	2786	4	PIK3C2A	11	17150888	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9455	17150888	117855628	11431	19143											
PIK3C2A	5286	broad.mit.edu	37	chr11	17156420	17156420	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatagtaaactggagcTgctctgttgtagtccatgct	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17156420T>C	ENST00000265970.7	-	10	2053	c.2054A>G	c.(2053-2055)cAg>cGg	p.Q685R	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q305R|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	685					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AAACTGGAGCTGCTCTGTTGT	0.428													False	0	False	11:17156420	0	C	17156420	T	C	17156420	3	2	88	1	0	0	0	0	1	0	0	0	11978	1580	55	4	3098	4	PIK3C2A	11	17156420	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5532	17156420	117850096	11432	19144											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190264	17190264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttttgcaagctgagttgttCgaatatttaaagactggctt	9	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17190264C>T	ENST00000265970.7	-	1	1024	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	342					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTGAGTTGTTCGAATATTTAA	0.373													False	0	False	11:17190264	0	T	17190264	C	T	17190264	3	4	88	1	0	0	0	0	1	0	0	0	11978	884	31	1	4163	1	PIK3C2A	11	17190264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33844	17190264	117816252	11433	19145											
NUCB2	4925	broad.mit.edu	37	chr11	17316892	17316892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggtggaggaccatcctgCtacagtattgctttctcttg	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17316892C>T	ENST00000529010.1	+	3	241	c.22C>T	c.(22-24)Cta>Tta	p.L8L	NUCB2_ENST00000458064.2_Silent_p.L8L|NUCB2_ENST00000323688.6_Silent_p.L8L	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	8						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GACCATCCTGCTACAGTATTG	0.353													False	0	False	11:17316892	0	T	17316892	C	T	17316892	2	4	88	1	0	0	0	0	0	0	0	1	10787	796	28	2		2	NUCB2	11	17316892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126628	17316892	117689624	11434	19146											
KCNJ11	3767	broad.mit.edu	37	chr11	17408543	17408543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgcttgcgcaggggccCgcgggctgaggcgagggtca	20	12	1	1	rs149141985		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17408543C>T	ENST00000339994.4	-	1	1663	c.1096G>A	c.(1096-1098)Ggg>Agg	p.G366R	KCNJ11_ENST00000528731.1_Missense_Mutation_p.G279R	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	279						integral to membrane	ATP-activated inward rectifier potassium channel activity	p.R365fs>24(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CGCAGGGGCCCGCGGGCTGAG	0.647											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:17408543	0	T	17408543	C	T	17408543	3	4	88	1	0	0	0	0	1	0	0	0	8095	652	23	1	80	1	KCNJ11	11	17408543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91651	17408543	117597973	11435	19147											
KCNJ11	3767	broad.mit.edu	37	chr11	17408593	17408593	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaggctgtggtcctcatcaAgctggcgggccgtgcagagt	16	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17408593A>C	ENST00000339994.4	-	1	1613	c.1046T>G	c.(1045-1047)cTt>cGt	p.L349R	KCNJ11_ENST00000528731.1_Missense_Mutation_p.L262R	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	262						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GTCCTCATCAAGCTGGCGGGC	0.627											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:17408593	0	C	17408593	A	C	17408593	3	2	88	1	0	0	0	0	1	0	0	0	8095	72	3	4	130	4	KCNJ11	11	17408593	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50	17408593	117597923	11436	19148											
ABCC8	6833	broad.mit.edu	37	chr11	17414677	17414677	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatggtgtgcactcgatgcTgggcagggcaggagggggcg	22	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17414677T>G	ENST00000302539.4	-	39	4737		c.e39-2		ABCC8_ENST00000389817.3_Splice_Site	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8						carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACTCGATGCTGGGCAGGGCA	0.642													False	0	True	11:17414677	0	G	17414677	T	G	17414677	5	3	88	1	0	0	0	0	0	0	1	0	58	1594	55	4	142	4	ABCC8	11	17414677	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6084	17414677	117591839	11437	19149											
ABCC8	6833	broad.mit.edu	37	chr11	17496471	17496471	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgcaatctcacacaccagGacgaagagcagcatgaaggt	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17496471G>A	ENST00000302539.4	-	2	377	c.252C>T	c.(250-252)gtC>gtT	p.V84V	ABCC8_ENST00000389817.3_Silent_p.V84V	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	84					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACACACCAGGACGAAGAGCA	0.557													False	0	False	11:17496471	0	A	17496471	G	A	17496471	2	1	88	1	0	0	0	0	0	0	0	1	58	1161	41	2		2	ABCC8	11	17496471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81794	17496471	117510045	11438	19150											
USH1C	10083	broad.mit.edu	37	chr11	17517163	17517163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctgtgcacggcagcacGgtcttcaaggagctttcgga	14	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17517163G>A	ENST00000005226.7	-	26	2607	c.2608C>T	c.(2608-2610)Cgt>Tgt	p.R870C	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ACGGCAGCACGGTCTTCAAGG	0.587													False	0	False	11:17517163	0	A	17517163	G	A	17517163	3	1	88	1	0	0	0	0	1	0	0	0	17118	1116	39	1	99	1	USH1C	11	17517163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20692	17517163	117489353	11439	19151											
USH1C	10083	broad.mit.edu	37	chr11	17522689	17522689	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttccagggccaggtctaaGgatccctcctggttagagga	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17522689G>T	ENST00000005226.7	-	23	2288	c.2289C>A	c.(2287-2289)tcC>tcA	p.S763S	USH1C_ENST00000527020.1_Silent_p.S444S|USH1C_ENST00000318024.4_Silent_p.S463S|USH1C_ENST00000527720.1_Silent_p.S432S|USH1C_ENST00000529563.1_5'UTR	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	463					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCAGGTCTAAGGATCCCTCCT	0.587													False	0	False	11:17522689	0	T	17522689	G	T	17522689	2	4	88	1	0	0	0	0	0	0	0	1	17118	987	35	3		3	USH1C	11	17522689	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5526	17522689	117483827	11440	19152											
USH1C	10083	broad.mit.edu	37	chr11	17545008	17545008	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtcgacgccattgacttcGacaatctggtcccctatctg	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17545008G>A	ENST00000005226.7	-	10	776	c.777C>T	c.(775-777)gtC>gtT	p.V259V	USH1C_ENST00000527020.1_Silent_p.V259V|USH1C_ENST00000318024.4_Silent_p.V259V|USH1C_ENST00000527720.1_Silent_p.V228V	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	259	PDZ 2.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CATTGACTTCGACAATCTGGT	0.537													False	0	False	11:17545008	0	A	17545008	G	A	17545008	2	1	88	1	0	0	0	0	0	0	0	1	17118	1045	37	1		1	USH1C	11	17545008	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22319	17545008	117461508	11441	19153											
KCNC1	3746	broad.mit.edu	37	chr11	17757938	17757938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgctcctctggacaacaGcgccgacgacgcggacgccg	14	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17757938G>A	ENST00000379472.3	+	1	419	c.389G>A	c.(388-390)aGc>aAc	p.S130N	KCNC1_ENST00000265969.6_Missense_Mutation_p.S130N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	130						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGGACAACAGCGCCGACGAC	0.711													False	0	False	11:17757938	0	A	17757938	G	A	17757938	3	1	88	1	0	0	0	0	1	0	0	0	8064	971	34	2	391	2	KCNC1	11	17757938	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212930	17757938	117248578	11442	19154											
KCNC1	3746	broad.mit.edu	37	chr11	17793582	17793582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttcctgcgcgtcgtccGcttcgtgcgcatcttgcgca	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17793582G>A	ENST00000379472.3	+	2	971	c.941G>A	c.(940-942)cGc>cAc	p.R314H	KCNC1_ENST00000265969.6_Missense_Mutation_p.R314H	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	314						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGCGTCGTCCGCTTCGTGCGC	0.637													False	0	False	11:17793582	0	A	17793582	G	A	17793582	3	1	88	1	0	0	0	0	1	0	0	0	8064	1087	38	1	947	1	KCNC1	11	17793582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35644	17793582	117212934	11443	19155											
TPH1	7166	broad.mit.edu	37	chr11	18042657	18042657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggatctgaatactccGtgtatatggattatacttca	7	7	3	1	rs151168710	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18042657G>A	ENST00000250018.2	-	10	1778	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	TPH1_ENST00000341556.2_Missense_Mutation_p.R406W|RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000525406.1_5'UTR	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	406					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGAATACTCCGTGTATATGGA	0.398													False	0	False	11:18042657	0	A	18042657	G	A	18042657	3	1	88	1	0	0	0	0	1	0	0	0	16484	1144	40	1	122	1	TPH1	11	18042657	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249075	18042657	116963859	11444	19156											
TPH1	7166	broad.mit.edu	37	chr11	18057690	18057690	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacagattcacatgcttctcCtgtgtaaagcacagggaaaa	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18057690C>A	ENST00000250018.2	-	2	680		c.e2-1		TPH1_ENST00000341556.2_Splice_Site	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1						aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CATGCTTCTCCTGTGTAAAGC	0.353													False	0	False	11:18057690	0	A	18057690	C	A	18057690	5	1	88	1	0	0	0	0	0	0	1	0	16484	695	24	3	1253	3	TPH1	11	18057690	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15033	18057690	116948826	11445	19157											
SAAL1	113174	broad.mit.edu	37	chr11	18111740	18111740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accatttgttgaacttgacaTaatgaagcaaatgctatcat	6	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18111740T>C	ENST00000524803.1	-	6	620	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.M191V|SAAL1_ENST00000300013.4_Missense_Mutation_p.M191V			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	191					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						GAACTTGACATAATGAAGCAA	0.353													False	0	False	11:18111740	0	C	18111740	T	C	18111740	3	2	88	1	0	0	0	0	1	0	0	0	13880	1406	49	4	881	4	SAAL1	11	18111740	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	54050	18111740	116894776	11446	19158											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159146	18159146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccatctggtaccactgcCgccgccccagatacctgtca	9	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18159146C>T	ENST00000396275.2	+	3	758	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	133						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GTACCACTGCCGCCGCCCCAG	0.572													False	0	True	11:18159146	0	T	18159146	C	T	18159146	3	4	88	1	0	0	0	0	1	0	0	0	9835	652	23	1	399	1	MRGPRX3	11	18159146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47406	18159146	116847370	11447	19159											
SAA1	6288	broad.mit.edu	37	chr11	18290872	18290872	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgcctgggctgcagaAgtgatcacgtaactggagct	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18290872A>C	ENST00000405158.2	+	3	406	c.222A>C	c.(220-222)gaA>gaC	p.E74D	SAA1_ENST00000356524.4_Missense_Mutation_p.E74D|SAA1_ENST00000532858.1_Missense_Mutation_p.E74D	NM_000331.4	NP_000322	P02735	SAA_HUMAN	serum amyloid A1	74					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGGCTGCAGAAGTGATCACGT	0.557													False	0	False	11:18290872	0	C	18290872	A	C	18290872	3	2	88	1	0	0	0	0	1	0	0	0	13877	69	3	4	228	4	SAA1	11	18290872	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	131726	18290872	116715644	11448	19160											
HPS5	11234	broad.mit.edu	37	chr11	18313060	18313060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcttgatactctccttcGctcttttcaagttcaggaga	7	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18313060G>A	ENST00000396253.3	-	15	2489	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.A790V|HPS5_ENST00000438420.2_Missense_Mutation_p.A676V	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	790						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACTCTCCTTCGCTCTTTTCAA	0.398									Hermansky-Pudlak syndrome				False	0	False	11:18313060	0	A	18313060	G	A	18313060	3	1	88	1	0	0	0	0	1	0	0	0	7389	1087	38	1	1052	1	HPS5	11	18313060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22188	18313060	116693456	11449	19161											
GTF2H1	2965	broad.mit.edu	37	chr11	18359773	18359773	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgcaacagatagttcTtccacatccaatcataagca	6	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18359773T>G	ENST00000265963.4	+	4	625	c.465T>G	c.(463-465)tcT>tcG	p.S155S	GTF2H1_ENST00000453096.2_Silent_p.S155S|GTF2H1_ENST00000534641.1_Silent_p.S39S|GTF2H1_ENST00000524753.4_5'UTR	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	155					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CAGATAGTTCTTCCACATCCA	0.378								Nucleotide excision repair (NER)					False	0	False	11:18359773	0	G	18359773	T	G	18359773	2	3	88	1	0	0	0	0	0	0	0	1	6907	1596	56	4		4	GTF2H1	11	18359773	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46713	18359773	116646743	11450	19162											
GTF2H1	2965	broad.mit.edu	37	chr11	18387396	18387396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacacatggcagtcacggCgtctgatgaagaaaacgtga	11	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18387396C>T	ENST00000265963.4	+	15	1787	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C	GTF2H1_ENST00000453096.2_Missense_Mutation_p.R543C|GTF2H1_ENST00000530496.2_Missense_Mutation_p.R231C|GTF2H1_ENST00000526630.2_Missense_Mutation_p.R133C|GTF2H1_ENST00000534641.1_Missense_Mutation_p.R427C	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	543					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GCAGTCACGGCGTCTGATGAA	0.483								Nucleotide excision repair (NER)					False	0	False	11:18387396	0	T	18387396	C	T	18387396	3	4	88	1	0	0	0	0	1	0	0	0	6907	768	27	1	1681	1	GTF2H1	11	18387396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27623	18387396	116619120	11451	19163											
TSG101	7251	broad.mit.edu	37	chr11	18536312	18536312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagtcattgaactagtaggCttaacaaaacagataggggg	11	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18536312C>T	ENST00000536719.1	-	4	404	c.270G>A	c.(268-270)aaG>aaA	p.K90K	TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000251968.3_Silent_p.K90K			Q99816	TS101_HUMAN	tumor susceptibility 101	90	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AACTAGTAGGCTTAACAAAAC	0.338													False	0	False	11:18536312	0	T	18536312	C	T	18536312	2	4	88	1	0	0	0	0	0	0	0	1	16699	796	28	2		2	TSG101	11	18536312	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148916	18536312	116470204	11452	19164											
TSG101	7251	broad.mit.edu	37	chr11	18536328	18536328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggcttaacaaaacagataGggggattatatgggtatgtg	13	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18536328G>T	ENST00000536719.1	-	4	388	c.254C>A	c.(253-255)cCt>cAt	p.P85H	TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000251968.3_Missense_Mutation_p.P85H			Q99816	TS101_HUMAN	tumor susceptibility 101	85	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AAAACAGATAGGGGGATTATA	0.323													False	0	True	11:18536328	0	T	18536328	G	T	18536328	3	4	88	1	0	0	0	0	1	0	0	0	16699	1000	35	3	946	3	TSG101	11	18536328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16	18536328	116470188	11453	19165											
UEVLD	55293	broad.mit.edu	37	chr11	18557951	18557951	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccagtcagtgttAcctgttggacagctgcactt	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18557951A>G	ENST00000396197.3	-	10	1153		c.e10+1		UEVLD_ENST00000543987.1_Splice_Site|UEVLD_ENST00000540666.1_Splice_Site|UEVLD_ENST00000535484.1_Splice_Site|UEVLD_ENST00000379387.4_Splice_Site|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000320750.6_Splice_Site	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains						cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGTCAGTGTTACCTGTTGGAC	0.368													False	0	False	11:18557951	0	G	18557951	A	G	18557951	5	3	88	1	0	0	0	0	0	0	1	0	17017	405	14	4	301	4	UEVLD	11	18557951	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21623	18557951	116448565	11454	19166											
TMEM86A	144110	broad.mit.edu	37	chr11	18722484	18722484	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgtgtcctccaggtgaAgagtgaaggacccaaactgg	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18722484A>C	ENST00000280734.2	+	2	122	c.26A>C	c.(25-27)aAg>aCg	p.K9T	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	9						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CTCCAGGTGAAGAGTGAAGGA	0.572													False	0	False	11:18722484	0	C	18722484	A	C	18722484	3	2	88	1	0	0	0	0	1	0	0	0	16290	72	3	4	32	4	TMEM86A	11	18722484	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	164533	18722484	116284032	11455	19167											
TMEM86A	144110	broad.mit.edu	37	chr11	18723381	18723381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcagctggcagtggtgCactcttctttatcatctcag	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18723381C>T	ENST00000280734.2	+	3	644	c.548C>T	c.(547-549)gCa>gTa	p.A183V		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	183						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GGCAGTGGTGCACTCTTCTTT	0.582													False	0	False	11:18723381	0	T	18723381	C	T	18723381	3	4	88	1	0	0	0	0	1	0	0	0	16290	710	25	2	558	2	TMEM86A	11	18723381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	897	18723381	116283135	11456	19168											
IGSF22	283284	broad.mit.edu	37	chr11	18729430	18729430	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtacacccctgagtcagaGcgcttggtgctattaatgag	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18729430G>A	ENST00000513874.1	-	20	3340	c.3201C>T	c.(3199-3201)cgC>cgT	p.R1067R	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	672										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTGAGTCAGAGCGCTTGGTGC	0.522													False	0	False	11:18729430	0	A	18729430	G	A	18729430	2	1	88	1	0	0	0	0	0	0	0	1	7650	958	34	2		2	IGSF22	11	18729430	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6049	18729430	116277086	11457	19169											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955973	18955973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacaggacggacaggcagCgctcggtgctcacggcactc	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18955973C>T	ENST00000302797.3	-	1	583	c.359G>A	c.(358-360)cGc>cAc	p.R120H	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	120					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGACAGGCAGCGCTCGGTGCT	0.587													False	0	False	11:18955973	0	T	18955973	C	T	18955973	3	4	88	1	0	0	0	0	1	0	0	0	9833	768	27	1	613	1	MRGPRX1	11	18955973	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	226543	18955973	116050543	11458	19170											
E2F8	79733	broad.mit.edu	37	chr11	19259489	19259489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggatctcagggctcacaGcactgatgagcattttcagg	12	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19259489G>A	ENST00000527884.1	-	3	438	c.206C>T	c.(205-207)gCt>gTt	p.A69V	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.A69V	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	69					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGGCTCACAGCACTGATGAG	0.512													False	0	False	11:19259489	0	A	19259489	G	A	19259489	3	1	88	1	0	0	0	0	1	0	0	0	4903	971	34	2	2441	2	E2F8	11	19259489	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303516	19259489	115747027	11459	19171											
NAV2	89797	broad.mit.edu	37	chr11	19901485	19901485	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccgatacaagcagcagcaGcagcagccccagaagcagca	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19901485G>T	ENST00000396085.1	+	5	943	c.582G>T	c.(580-582)caG>caT	p.Q194H	NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000527559.2_Missense_Mutation_p.Q123H|NAV2_ENST00000396087.3_Missense_Mutation_p.Q194H|NAV2_ENST00000349880.4_Missense_Mutation_p.Q194H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q130H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q125H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	194	Gln-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						agcagcagcagcagcagcccc	0.607													False	0	True	11:19901485	0	T	19901485	G	T	19901485	3	4	88	1	0	0	0	0	1	0	0	0	10251	962	34	3	679	3	NAV2	11	19901485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	641996	19901485	115105031	11460	19172											
NAV2	89797	broad.mit.edu	37	chr11	19901641	19901641	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagccagcgccacatcaGcagtcaaaagcacaagctga	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19901641G>T	ENST00000396085.1	+	5	1099	c.738G>T	c.(736-738)caG>caT	p.Q246H	NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000527559.2_Missense_Mutation_p.Q175H|NAV2_ENST00000396087.3_Missense_Mutation_p.Q246H|NAV2_ENST00000349880.4_Missense_Mutation_p.Q246H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q182H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q177H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	246	Gln-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGCCACATCAGCAGTCAAAAG	0.622													False	0	False	11:19901641	0	T	19901641	G	T	19901641	3	4	88	1	0	0	0	0	1	0	0	0	10251	962	34	3	835	3	NAV2	11	19901641	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156	19901641	115104875	11461	19173											
NAV2	89797	broad.mit.edu	37	chr11	19961293	19961293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagccacttcaccaagactgGacagcctgctctggaagaac	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19961293G>A	ENST00000396085.1	+	8	2481	c.2120G>A	c.(2119-2121)gGa>gAa	p.G707E	NAV2_ENST00000527559.2_Missense_Mutation_p.G659E|NAV2_ENST00000396087.3_Missense_Mutation_p.G730E|NAV2_ENST00000349880.4_Missense_Mutation_p.G707E|NAV2_ENST00000360655.4_Missense_Mutation_p.G643E|NAV2_ENST00000540292.1_Missense_Mutation_p.G661E	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	730						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCAAGACTGGACAGCCTGCT	0.532													False	0	False	11:19961293	0	A	19961293	G	A	19961293	3	1	88	1	0	0	0	0	1	0	0	0	10251	1174	41	2	2229	2	NAV2	11	19961293	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59652	19961293	115045223	11462	19174											
NAV2	89797	broad.mit.edu	37	chr11	20066559	20066559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaaggaaggctttctcCtaaagcctcccaggtgaagc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20066559C>T	ENST00000396085.1	+	14	3606	c.3245C>T	c.(3244-3246)cCt>cTt	p.P1082L	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000527559.2_Missense_Mutation_p.P1034L|NAV2_ENST00000396087.3_Missense_Mutation_p.P1105L|NAV2_ENST00000349880.4_Missense_Mutation_p.P1082L|NAV2_ENST00000533917.1_Missense_Mutation_p.P168L|NAV2_ENST00000360655.4_Missense_Mutation_p.P1018L|NAV2_ENST00000311043.8_Missense_Mutation_p.P168L|NAV2_ENST00000540292.1_Missense_Mutation_p.P1036L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1105						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGCTTTCTCCTAAAGCCTCC	0.542													False	0	False	11:20066559	0	T	20066559	C	T	20066559	3	4	88	1	0	0	0	0	1	0	0	0	10251	681	24	2	3408	2	NAV2	11	20066559	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105266	20066559	114939957	11463	19175											
NAV2	89797	broad.mit.edu	37	chr11	20089942	20089942	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaccacccagctgacagcaAatgtaagtacagacataggg	10	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20089942A>C	ENST00000396085.1	+	22	5342	c.4981A>C	c.(4981-4983)Aat>Cat	p.N1661H	NAV2_ENST00000527559.2_Missense_Mutation_p.N1646H|NAV2_ENST00000396087.3_Missense_Mutation_p.N1717H|NAV2_ENST00000349880.4_Missense_Mutation_p.N1661H|NAV2_ENST00000533917.1_Missense_Mutation_p.N725H|NAV2_ENST00000360655.4_Missense_Mutation_p.N1597H|NAV2_ENST00000311043.8_Missense_Mutation_p.N725H|NAV2_ENST00000540292.1_Missense_Mutation_p.N1648H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1717	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCTGACAGCAAATGTAAGTAC	0.507													False	0	True	11:20089942	0	C	20089942	A	C	20089942	3	2	88	1	0	0	0	0	1	0	0	0	10251	14	1	4	5176	4	NAV2	11	20089942	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23383	20089942	114916574	11464	19176											
HTATIP2	10553	broad.mit.edu	37	chr11	20388826	20388826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagagggaaagctggggCggtaaggaaggcatatgctc	16	8	0	1	rs148194087		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20388826C>T	ENST00000532081.1	+	2	399	c.302C>T	c.(301-303)gCg>gTg	p.A101V	HTATIP2_ENST00000451739.2_Splice_Site_p.A101V|HTATIP2_ENST00000531058.1_Splice_Site_p.A101V|HTATIP2_ENST00000532505.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000419348.2_Splice_Site_p.A135V|HTATIP2_ENST00000530266.1_Missense_Mutation_p.A101V|HTATIP2_ENST00000443524.2_Splice_Site_p.A101V|HTATIP2_ENST00000421577.2_Splice_Site_p.A101V	NM_001098523.1	NP_001091993.1	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa	101					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity			large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AAAGCTGGGGCGGTAAGGAAG	0.458													False	0	True	11:20388826	0	T	20388826	C	T	20388826	3	4	88	1	0	0	0	0	1	0	0	0	7482	782	27	1	414	1	HTATIP2	11	20388826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298884	20388826	114617690	11465	19177											
HTATIP2	10553	broad.mit.edu	37	chr11	20404603	20404603	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttggctccttaccagactCttgggccagtgggcattctg	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20404603C>T	ENST00000451739.2	+	5	1022	c.581C>T	c.(580-582)tCt>tTt	p.S194F	HTATIP2_ENST00000531058.1_Missense_Mutation_p.S148F|HTATIP2_ENST00000419348.2_Missense_Mutation_p.S228F|HTATIP2_ENST00000443524.2_Missense_Mutation_p.S194F|HTATIP2_ENST00000421577.2_Missense_Mutation_p.S194F	NM_001098522.1	NP_001091992.1	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa	194					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity			large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TTACCAGACTCTTGGGCCAGT	0.448													False	0	False	11:20404603	0	T	20404603	C	T	20404603	3	4	88	1	0	0	0	0	1	0	0	0	7482	913	32	2	804	2	HTATIP2	11	20404603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15777	20404603	114601913	11466	19178											
PRMT3	10196	broad.mit.edu	37	chr11	20417453	20417453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacatatggaagccaggGcactgtctgctgaagccgca	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20417453G>A	ENST00000331079.6	+	6	722	c.505G>A	c.(505-507)Gca>Aca	p.A169T	PRMT3_ENST00000437750.2_Missense_Mutation_p.A107T	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	169							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GGAAGCCAGGGCACTGTCTGC	0.398													False	0	True	11:20417453	0	A	20417453	G	A	20417453	3	1	88	1	0	0	0	0	1	0	0	0	12614	1203	42	2	527	2	PRMT3	11	20417453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12850	20417453	114589063	11467	19179											
PRMT3	10196	broad.mit.edu	37	chr11	20529951	20529951	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attcaactcaaacttatggtCtccagtgaaacagccataaa	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20529951C>A	ENST00000331079.6	+	16	1805	c.1588C>A	c.(1588-1590)Ctc>Atc	p.L530I	PRMT3_ENST00000437750.2_Missense_Mutation_p.L468I	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	530							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AACTTATGGTCTCCAGTGAAA	0.448													False	0	False	11:20529951	0	A	20529951	C	A	20529951	3	1	88	1	0	0	0	0	1	0	0	0	12614	913	32	3	1650	3	PRMT3	11	20529951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112498	20529951	114476565	11468	19180											
SLC6A5	9152	broad.mit.edu	37	chr11	20629158	20629158	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggctcctgcaacaacccttgGaatacgccagaatgcaaaga	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20629158G>T	ENST00000525748.1	+	5	1218	c.945G>T	c.(943-945)tgG>tgT	p.W315C		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	315					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACAACCCTTGGAATACGCCAG	0.373													False	0	False	11:20629158	0	T	20629158	G	T	20629158	3	4	88	1	0	0	0	0	1	0	0	0	14767	1183	41	3	963	3	SLC6A5	11	20629158	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99207	20629158	114377358	11469	19181											
SLC6A5	9152	broad.mit.edu	37	chr11	20652292	20652292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcatctttgccggcttcGtcatcttctccgttatcggc	8	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20652292G>A	ENST00000525748.1	+	10	1828	c.1555G>A	c.(1555-1557)Gtc>Atc	p.V519I	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	519					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.V519I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGCCGGCTTCGTCATCTTCTC	0.498													False	0	False	11:20652292	0	A	20652292	G	A	20652292	3	1	88	1	0	0	0	0	1	0	0	0	14767	1145	40	1	1593	1	SLC6A5	11	20652292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23134	20652292	114354224	11470	19182											
NELL1	4745	broad.mit.edu	37	chr11	20948936	20948936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgagtggactgctctatcGagatcaagactcttgggtag	13	7	3	3	rs140129150		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20948936G>A	ENST00000298925.5	+	9	1079	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	NELL1_ENST00000325319.5_Missense_Mutation_p.R224Q|NELL1_ENST00000357134.5_Missense_Mutation_p.R281Q|NELL1_ENST00000532434.1_Missense_Mutation_p.R281Q			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	281	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTGCTCTATCGAGATCAAGAC	0.393													False	0	False	11:20948936	0	A	20948936	G	A	20948936	3	1	88	1	0	0	0	0	1	0	0	0	10401	1058	37	1	872	1	NELL1	11	20948936	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296644	20948936	114057580	11471	19183											
NELL1	4745	broad.mit.edu	37	chr11	21581775	21581775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaactcacacctgttggaaCgattctgcctgcatcaacct	7	13	3	1	rs111554917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:21581775C>T	ENST00000298925.5	+	18	2064	c.1911C>T	c.(1909-1911)aaC>aaT	p.N637N	NELL1_ENST00000529218.1_Intron|NELL1_ENST00000325319.5_Silent_p.N552N|NELL1_ENST00000357134.5_Silent_p.N609N|NELL1_ENST00000532434.1_Silent_p.N562N			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	609	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CCTGTTGGAACGATTCTGCCT	0.507													False	0	False	11:21581775	0	T	21581775	C	T	21581775	2	4	88	1	0	0	0	0	0	0	0	1	10401	535	19	1		1	NELL1	11	21581775	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	632839	21581775	113424741	11472	19184											
ANO5	203859	broad.mit.edu	37	chr11	22225378	22225378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaataagcatatagactaCtctttccaaatgagtgaggt	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22225378C>T	ENST00000324559.8	+	2	386	c.69C>T	c.(67-69)taC>taT	p.Y23Y		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	23						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATATAGACTACTCTTTCCAAA	0.279													False	0	False	11:22225378	0	T	22225378	C	T	22225378	2	4	88	1	0	0	0	0	0	0	0	1	700	576	20	2		2	ANO5	11	22225378	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	643603	22225378	112781138	11473	19185											
ANO5	203859	broad.mit.edu	37	chr11	22283829	22283829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacatatttatttaatgaGtggagaagtgaagaggtaag	11	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22283829G>A	ENST00000324559.8	+	16	2102	c.1785G>A	c.(1783-1785)gaG>gaA	p.E595E		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	595						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATTTAATGAGTGGAGAAGTG	0.363													False	0	False	11:22283829	0	A	22283829	G	A	22283829	2	1	88	1	0	0	0	0	0	0	0	1	700	1020	36	2		2	ANO5	11	22283829	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58451	22283829	112722687	11474	19186											
ANO5	203859	broad.mit.edu	37	chr11	22301230	22301230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacaaattaaaagagaaCttgggaattaattctaatga	6	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22301230C>T	ENST00000324559.8	+	22	2978	c.2661C>T	c.(2659-2661)aaC>aaT	p.N887N		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	887						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAAAAGAGAACTTGGGAATTA	0.353													False	0	False	11:22301230	0	T	22301230	C	T	22301230	2	4	88	1	0	0	0	0	0	0	0	1	700	564	20	2		2	ANO5	11	22301230	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17401	22301230	112705286	11475	19187											
SLC17A6	57084	broad.mit.edu	37	chr11	22363311	22363311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaccatccaccgcgggggCaaggtcatcaaggaggtggg	16	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22363311C>T	ENST00000263160.3	+	2	761	c.324C>T	c.(322-324)ggC>ggT	p.G108G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	108					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.G108G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ACCGCGGGGGCAAGGTCATCA	0.632													False	0	True	11:22363311	0	T	22363311	C	T	22363311	2	4	88	1	0	0	0	0	0	0	0	1	14502	697	25	2		2	SLC17A6	11	22363311	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62081	22363311	112643205	11476	19188											
SLC17A6	57084	broad.mit.edu	37	chr11	22381043	22381043	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgcattatggatgtgtcatCtttgtcagaatactgcaggg	12	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22381043C>A	ENST00000263160.3	+	4	980	c.543C>A	c.(541-543)atC>atA	p.I181I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	181					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GATGTGTCATCTTTGTCAGAA	0.408													False	0	True	11:22381043	0	A	22381043	C	A	22381043	2	1	88	1	0	0	0	0	0	0	0	1	14502	903	32	3		3	SLC17A6	11	22381043	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17732	22381043	112625473	11477	19189											
GAS2	2620	broad.mit.edu	37	chr11	22696559	22696559	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggttaaccaatctattAggtaaggttataagatctca	8	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22696559A>G	ENST00000454584.2	+	2	449	c.144A>G	c.(142-144)ttA>ttG	p.L48L	GAS2_ENST00000278187.3_Splice_Site_p.L48L|GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000433790.1_Splice_Site_p.L48L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	48	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CCAATCTATTAGGTAAGGTTA	0.393													False	0	False	11:22696559	0	G	22696559	A	G	22696559	5	3	88	1	0	0	0	0	0	0	1	0	6288	434	15	4	146	4	GAS2	11	22696559	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	315516	22696559	112309957	11478	19190											
GAS2	2620	broad.mit.edu	37	chr11	22747968	22747968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaacgtgtctatttgaatCggaaggtttgggtatgtatt	12	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22747968C>T	ENST00000454584.2	+	4	703	c.398C>T	c.(397-399)tCg>tTg	p.S133L	GAS2_ENST00000278187.3_Missense_Mutation_p.S133L|GAS2_ENST00000433790.1_Missense_Mutation_p.S133L	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	133	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTATTTGAATCGGAAGGTTTG	0.383													False	0	False	11:22747968	0	T	22747968	C	T	22747968	3	4	88	1	0	0	0	0	1	0	0	0	6288	893	31	1	408	1	GAS2	11	22747968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51409	22747968	112258548	11479	19191											
GAS2	2620	broad.mit.edu	37	chr11	22777449	22777449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacaagttctgtgtggagCggctctcccaaggaagatac	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22777449C>T	ENST00000454584.2	+	7	978	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	GAS2_ENST00000278187.3_Missense_Mutation_p.R225W|GAS2_ENST00000433790.1_Missense_Mutation_p.R225W	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	225	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTGTGTGGAGCGGCTCTCCCA	0.398													False	0	False	11:22777449	0	T	22777449	C	T	22777449	3	4	88	1	0	0	0	0	1	0	0	0	6288	759	27	1	695	1	GAS2	11	22777449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29481	22777449	112229067	11480	19192											
ANO3	63982	broad.mit.edu	37	chr11	26463513	26463513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaaacttcgttaaaacCgtctcggagatccctgcctt	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26463513C>T	ENST00000256737.3	+	2	947	c.95C>T	c.(94-96)cCg>cTg	p.P32L	ANO3_ENST00000537978.1_Missense_Mutation_p.P16L|ANO3_ENST00000531646.1_Missense_Mutation_p.P32L|ANO3_ENST00000525139.1_Missense_Mutation_p.P16L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	32						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCGTTAAAACCGTCTCGGAGA	0.428													False	0	False	11:26463513	0	T	26463513	C	T	26463513	3	4	88	1	0	0	0	0	1	0	0	0	698	652	23	1	101	1	ANO3	11	26463513	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3686064	26463513	108543003	11481	19193											
ANO3	63982	broad.mit.edu	37	chr11	26465342	26465342	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaataaaaacgactctgTgctgagatgttcatttgctg	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26465342T>C	ENST00000256737.3	+	3	1124	c.272T>C	c.(271-273)gTg>gCg	p.V91A	ANO3_ENST00000537978.1_Missense_Mutation_p.V75A|ANO3_ENST00000531646.1_Missense_Mutation_p.V91A|ANO3_ENST00000525139.1_Missense_Mutation_p.V75A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	91						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AACGACTCTGTGCTGAGATGT	0.343													False	0	False	11:26465342	0	C	26465342	T	C	26465342	3	2	88	1	0	0	0	0	1	0	0	0	698	1696	59	4	282	4	ANO3	11	26465342	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1829	26465342	108541174	11482	19194											
ANO3	63982	broad.mit.edu	37	chr11	26574818	26574818	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaaatttgtaaagccactGaagtctttatgtgccctctc	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26574818G>A	ENST00000256737.3	+	13	2164	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.E422K|ANO3_ENST00000531568.1_Missense_Mutation_p.E292K|ANO3_ENST00000525139.1_Missense_Mutation_p.E422K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	438						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TAAAGCCACTGAAGTCTTTAT	0.423													False	0	False	11:26574818	0	A	26574818	G	A	26574818	3	1	88	1	0	0	0	0	1	0	0	0	698	1291	45	2	1362	2	ANO3	11	26574818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109476	26574818	108431698	11483	19195											
MUC15	143662	broad.mit.edu	37	chr11	26582721	26582721	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagttggattgtagtagctaGaattcccaaaactcacatca	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26582721G>T	ENST00000436318.2	-	4	1110	c.977C>A	c.(976-978)tCt>tAt	p.S326Y	ANO3_ENST00000529242.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.S326Y|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.S276Y|MUC15_ENST00000527569.1_Missense_Mutation_p.S276Y|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.S299Y|ANO3_ENST00000525139.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	299						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTAGTAGCTAGAATTCCCAAA	0.383													False	0	False	11:26582721	0	T	26582721	G	T	26582721	3	4	88	1	0	0	0	0	1	0	0	0	10039	942	33	3	112	3	MUC15	11	26582721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7903	26582721	108423795	11484	19196											
ANO3	63982	broad.mit.edu	37	chr11	26619917	26619917	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttatattttatagccacaGtcttcctggagttttggaaa	7	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26619917G>T	ENST00000256737.3	+	15	2305	c.1453G>T	c.(1453-1455)Gtc>Ttc	p.V485F	ANO3_ENST00000537978.1_Missense_Mutation_p.V469F|ANO3_ENST00000531568.1_Missense_Mutation_p.V339F|ANO3_ENST00000525139.1_Missense_Mutation_p.V469F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	485						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TATAGCCACAGTCTTCCTGGA	0.318													False	0	False	11:26619917	0	T	26619917	G	T	26619917	3	4	88	1	0	0	0	0	1	0	0	0	698	1029	36	3	1511	3	ANO3	11	26619917	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37196	26619917	108386599	11485	19197											
ANO3	63982	broad.mit.edu	37	chr11	26619977	26619977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctatacttgggaccttatcGaatgggaagaagaggaggta	13	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26619977G>A	ENST00000256737.3	+	15	2365	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	ANO3_ENST00000537978.1_Missense_Mutation_p.E489K|ANO3_ENST00000531568.1_Missense_Mutation_p.E359K|ANO3_ENST00000525139.1_Missense_Mutation_p.E489K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	505						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GGACCTTATCGAATGGGAAGA	0.393													False	0	False	11:26619977	0	A	26619977	G	A	26619977	3	1	88	1	0	0	0	0	1	0	0	0	698	1059	37	1	1571	1	ANO3	11	26619977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	26619977	108386539	11486	19198											
ANO3	63982	broad.mit.edu	37	chr11	26620437	26620437	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtttgaagccaagtaTtacaagatggagattgtaaa	9	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26620437T>G	ENST00000256737.3	+	16	2415	c.1563T>G	c.(1561-1563)taT>taG	p.Y521*	ANO3_ENST00000537978.1_Nonsense_Mutation_p.Y505*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.Y375*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.Y505*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	521						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AAGCCAAGTATTACAAGATGG	0.393													False	0	False	11:26620437	0	G	26620437	T	G	26620437	4	3	88	1	0	0	0	0	0	1	0	0	698	1500	52	4	1625	4	ANO3	11	26620437	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	460	26620437	108386079	11487	19199											
ANO3	63982	broad.mit.edu	37	chr11	26620467	26620467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagattgtaaatcccatcacGggaaaacctgaaccacatca	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26620467G>A	ENST00000256737.3	+	16	2445	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	ANO3_ENST00000537978.1_Silent_p.T515T|ANO3_ENST00000531568.1_Silent_p.T385T|ANO3_ENST00000525139.1_Silent_p.T515T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	531						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATCCCATCACGGGAAAACCTG	0.403													False	0	True	11:26620467	0	A	26620467	G	A	26620467	2	1	88	1	0	0	0	0	0	0	0	1	698	1103	39	1		1	ANO3	11	26620467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	26620467	108386049	11488	19200											
ANO3	63982	broad.mit.edu	37	chr11	26669283	26669283	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttggaattctcgaaggaaTcggtatattggctgtgatca	12	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26669283T>C	ENST00000256737.3	+	24	3308	c.2456T>C	c.(2455-2457)aTc>aCc	p.I819T	ANO3_ENST00000537978.1_Missense_Mutation_p.I803T|ANO3_ENST00000531568.1_Missense_Mutation_p.I673T|ANO3_ENST00000525139.1_Missense_Mutation_p.I803T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	819						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTCGAAGGAATCGGTATATTG	0.348													False	0	False	11:26669283	0	C	26669283	T	C	26669283	3	2	88	1	0	0	0	0	1	0	0	0	698	1435	50	4	2550	4	ANO3	11	26669283	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48816	26669283	108337233	11489	19201											
BDNF	627	broad.mit.edu	37	chr11	27679922	27679922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagctcttctatcacgtgttCgaaagtgtcagccaatgatg	9	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:27679922C>T	ENST00000525528.1	-	1	1283	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	BDNF_ENST00000525950.1_Missense_Mutation_p.E64K|BDNF_ENST00000395981.3_Missense_Mutation_p.E64K|BDNF_ENST00000395978.3_Missense_Mutation_p.E64K|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000356660.4_Missense_Mutation_p.E64K|BDNF_ENST00000395986.2_Missense_Mutation_p.E79K|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.E64K|BDNF_ENST00000395980.2_Missense_Mutation_p.E64K|BDNF_ENST00000439476.2_Missense_Mutation_p.E64K|BDNF_ENST00000532997.1_Missense_Mutation_p.E64K|BDNF_ENST00000533246.1_Missense_Mutation_p.E64K|BDNF_ENST00000530861.1_Missense_Mutation_p.E64K|BDNF_ENST00000533131.1_Missense_Mutation_p.E64K|BDNF_ENST00000314915.6_Missense_Mutation_p.E72K|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.E146K|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000418212.1_Missense_Mutation_p.E64K|BDNF_ENST00000395983.3_Missense_Mutation_p.E64K	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	64						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						ATCACGTGTTCGAAAGTGTCA	0.532													False	0	False	11:27679922	0	T	27679922	C	T	27679922	3	4	88	1	0	0	0	0	1	0	0	0	1398	893	31	1	557	1	BDNF	11	27679922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1010639	27679922	107326594	11490	19202											
KCNA4	3739	broad.mit.edu	37	chr11	30033579	30033579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaaaaaaatactcattgCgcaaagggtcaaagtactga	8	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033579C>T	ENST00000328224.6	-	2	1880	c.647G>A	c.(646-648)cGc>cAc	p.R216H		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	216						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATACTCATTGCGCAAAGGGTC	0.478													False	0	False	11:30033579	0	T	30033579	C	T	30033579	3	4	88	1	0	0	0	0	1	0	0	0	8055	768	27	1	1318	1	KCNA4	11	30033579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2353657	30033579	104972937	11491	19203											
KCNA4	3739	broad.mit.edu	37	chr11	30033811	30033811	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttcactatagtaaaaccTtccctcctcttcctcctctt	1	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033811T>G	ENST00000328224.6	-	2	1648	c.415A>C	c.(415-417)Agg>Cgg	p.R139R		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	139						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TAGTAAAACCTTCcctcctct	0.552													False	0	False	11:30033811	0	G	30033811	T	G	30033811	2	3	88	1	0	0	0	0	0	0	0	1	8055	1608	56	4		4	KCNA4	11	30033811	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	232	30033811	104972705	11492	19204											
KCNA4	3739	broad.mit.edu	37	chr11	30033990	30033990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctccgactaccccggCtgctctgagggtcatgggag	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033990C>T	ENST00000328224.6	-	2	1469	c.236G>A	c.(235-237)aGc>aAc	p.S79N		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	79						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACTACCCCGGCTGCTCTGAGG	0.652													False	0	False	11:30033990	0	T	30033990	C	T	30033990	3	4	88	1	0	0	0	0	1	0	0	0	8055	797	28	2	1729	2	KCNA4	11	30033990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	30033990	104972526	11493	19205											
FSHB	2488	broad.mit.edu	37	chr11	30255204	30255204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaaacagtgagagtgcccGgctgtgctcaccatgcagat	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30255204G>A	ENST00000417547.1	+	3	286	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	FSHB_ENST00000254122.3_Missense_Mutation_p.G83S|FSHB_ENST00000533718.1_Missense_Mutation_p.G83S	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	83					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity	p.G83S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GAGAGTGCCCGGCTGTGCTCA	0.507													False	0	True	11:30255204	0	A	30255204	G	A	30255204	3	1	88	1	0	0	0	0	1	0	0	0	6114	1116	39	1	253	1	FSHB	11	30255204	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221214	30255204	104751312	11494	19206											
DCDC1	341019	broad.mit.edu	37	chr11	30914541	30914541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggatttcagaaaggtGtgcctgtcaagaaaagccca	10	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30914541G>A	ENST00000597505.1	-	34	4896	c.4897C>T	c.(4897-4899)Cac>Tac	p.H1633Y	DCDC1_ENST00000406071.2_Missense_Mutation_p.H371Y			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCAGAAAGGTGTGCCTGTCAA	0.373													False	0	False	11:30914541	0	A	30914541	G	A	30914541	3	1	88	1	0	0	0	0	1	0	0	0	4309	1392	48	2		2	DCDC1	11	30914541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	659337	30914541	104091975	11495	19207											
DCDC1	341019	broad.mit.edu	37	chr11	30915873	30915873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccttcaaccaccacgggCtgcacagggctcttggtagg	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30915873C>T	ENST00000597505.1	-	33	4814	c.4815G>A	c.(4813-4815)caG>caA	p.Q1605Q	DCDC1_ENST00000406071.2_Silent_p.Q343Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCACCACGGGCTGCACAGGGC	0.488													False	0	True	11:30915873	0	T	30915873	C	T	30915873	2	4	88	1	0	0	0	0	0	0	0	1	4309	812	28	2		2	DCDC1	11	30915873	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1332	30915873	104090643	11496	19208											
DCDC1	341019	broad.mit.edu	37	chr11	30925196	30925196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactttggaggctgctctgGcaagcccaagttgttccgtg	12	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30925196G>A	ENST00000597505.1	-	30	4342	c.4343C>T	c.(4342-4344)gCc>gTc	p.A1448V	DCDC1_ENST00000339794.5_Missense_Mutation_p.A527V|DCDC1_ENST00000406071.2_Missense_Mutation_p.A183V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	209					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGCTGCTCTGGCAAGCCCAAG	0.443													False	0	False	11:30925196	0	A	30925196	G	A	30925196	3	1	88	1	0	0	0	0	1	0	0	0	4309	1218	42	2		2	DCDC1	11	30925196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9323	30925196	104081320	11497	19209											
DCDC1	341019	broad.mit.edu	37	chr11	30938573	30938573	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgagctcttacgtgtgaaTctctatcaaggttcagaagc	10	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30938573T>G	ENST00000597505.1	-	24	3295	c.3296A>C	c.(3295-3297)gAt>gCt	p.D1099A	DCDC1_ENST00000339794.5_Missense_Mutation_p.D178A|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TACGTGTGAATCTCTATCAAG	0.408													False	0	False	11:30938573	0	G	30938573	T	G	30938573	3	3	88	1	0	0	0	0	1	0	0	0	4309	1450	50	4		4	DCDC1	11	30938573	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13377	30938573	104067943	11498	19210											
DCDC1	341019	broad.mit.edu	37	chr11	30942422	30942422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctccaaaaattgctacaGgtttatgcacagcaagcttg	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30942422G>A	ENST00000597505.1	-	23	3193	c.3194C>T	c.(3193-3195)cCt>cTt	p.P1065L	DCDC1_ENST00000339794.5_Missense_Mutation_p.P144L|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AATTGCTACAGGTTTATGCAC	0.383													False	0	False	11:30942422	0	A	30942422	G	A	30942422	3	1	88	1	0	0	0	0	1	0	0	0	4309	1015	35	2		2	DCDC1	11	30942422	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3849	30942422	104064094	11499	19211											
DCDC1	341019	broad.mit.edu	37	chr11	31115709	31115709	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccaatggaaacagaggcaTgaaggacaatattgggatct	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31115709T>C	ENST00000597505.1	-	14	2005	c.2006A>G	c.(2005-2007)cAt>cGt	p.H669R	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	84					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AACAGAGGCATGAAGGACAAT	0.433													False	0	False	11:31115709	0	C	31115709	T	C	31115709	3	2	88	1	0	0	0	0	1	0	0	0	4309	1479	51	4		4	DCDC1	11	31115709	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	173287	31115709	103890807	11500	19212											
DCDC1	341019	broad.mit.edu	37	chr11	31312288	31312288	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactgaggtcctctcagtaAgtttcttcattctaatagaa	8	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31312288A>C	ENST00000597505.1	-	5	865	c.866T>G	c.(865-867)cTt>cGt	p.L289R	DCDC1_ENST00000452803.1_Missense_Mutation_p.L289R			P59894	DCDC1_HUMAN	doublecortin domain containing 1	289					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTCTCAGTAAGTTTCTTCAT	0.378													False	0	False	11:31312288	0	C	31312288	A	C	31312288	3	2	88	1	0	0	0	0	1	0	0	0	4309	72	3	4	210	4	DCDC1	11	31312288	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	196579	31312288	103694228	11501	19213											
ELP4	26610	broad.mit.edu	37	chr11	31805078	31805078	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacctggacttctagggattCctccttagtcgctgcatgca	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31805078C>A	ENST00000379163.5	+	11	1438	c.1423C>A	c.(1423-1425)Cct>Act	p.P475T	ELP4_ENST00000350638.5_3'UTR|ELP4_ENST00000395934.2_3'UTR			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	0					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TCTAGGGATTCCTCCTTAGTC	0.478													False	0	False	11:31805078	0	A	31805078	C	A	31805078	3	1	88	1	0	0	0	0	1	0	0	0	5114	870	30	3		3	ELP4	11	31805078	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	492790	31805078	103201438	11502	19214											
CCDC73	493860	broad.mit.edu	37	chr11	32635356	32635356	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtattatttaacaatgtatgCtgtctttcattaatgctcac	5	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32635356C>A	ENST00000335185.5	-	16	2551	c.2508G>T	c.(2506-2508)caG>caT	p.Q836H		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	836										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACAATGTATGCTGTCTTTCAT	0.328													False	0	False	11:32635356	0	A	32635356	C	A	32635356	3	1	88	1	0	0	0	0	1	0	0	0	2867	796	28	3	743	3	CCDC73	11	32635356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	830278	32635356	102371160	11503	19215											
CCDC73	493860	broad.mit.edu	37	chr11	32635397	32635397	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggaagaggtcattttTtgtggcttcagttacctgat	10	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32635397T>G	ENST00000335185.5	-	16	2510	c.2467A>C	c.(2467-2469)Aaa>Caa	p.K823Q		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	823										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGGTCATTTTTTGTGGCTTCA	0.323													False	0	True	11:32635397	0	G	32635397	T	G	32635397	3	3	88	1	0	0	0	0	1	0	0	0	2867	1850	64	4	784	4	CCDC73	11	32635397	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41	32635397	102371119	11504	19216											
QSER1	79832	broad.mit.edu	37	chr11	32955888	32955888	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcattagatgtcaggcatgtGacttcagattttaactctat	7	7	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32955888G>A	ENST00000399302.2	+	4	3032	c.2697G>A	c.(2695-2697)gtG>gtA	p.V899V	QSER1_ENST00000527788.1_Silent_p.V660V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	899										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCAGGCATGTGACTTCAGATT	0.373													False	0	False	11:32955888	0	A	32955888	G	A	32955888	2	1	88	1	0	0	0	0	0	0	0	1	12961	1277	45	2		2	QSER1	11	32955888	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	320491	32955888	102050628	11505	19217											
QSER1	79832	broad.mit.edu	37	chr11	32956758	32956758	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggttcgtacattttgtccCccaccacttcccaagccttc	5	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32956758C>A	ENST00000399302.2	+	4	3902	c.3567C>A	c.(3565-3567)ccC>ccA	p.P1189P	QSER1_ENST00000527788.1_Silent_p.P950P	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1189										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CATTTTGTCCCCCACCACTTC	0.473													False	0	True	11:32956758	0	A	32956758	C	A	32956758	2	1	88	1	0	0	0	0	0	0	0	1	12961	610	22	3		3	QSER1	11	32956758	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	870	32956758	102049758	11506	19218											
QSER1	79832	broad.mit.edu	37	chr11	32979504	32979504	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagccccttccgtgaaacCcaaagttaaacagccaaaag	6	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32979504C>A	ENST00000399302.2	+	8	4789	c.4454C>A	c.(4453-4455)cCc>cAc	p.P1485H	QSER1_ENST00000527788.1_Missense_Mutation_p.P1246H	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1485										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCCGTGAAACCCAAAGTTAAA	0.403													False	0	True	11:32979504	0	A	32979504	C	A	32979504	3	1	88	1	0	0	0	0	1	0	0	0	12961	623	22	3	4476	3	QSER1	11	32979504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22746	32979504	102027012	11507	19219											
QSER1	79832	broad.mit.edu	37	chr11	32987888	32987888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcactcgctttttgaacaCaagagcaatgaaggaaacct	8	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32987888C>T	ENST00000399302.2	+	9	4960	c.4625C>T	c.(4624-4626)aCa>aTa	p.T1542I	QSER1_ENST00000527788.1_Missense_Mutation_p.T1303I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1542										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TTTTTGAACACAAGAGCAATG	0.408													False	0	False	11:32987888	0	T	32987888	C	T	32987888	3	4	88	1	0	0	0	0	1	0	0	0	12961	478	17	2	4651	2	QSER1	11	32987888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8384	32987888	102018628	11508	19220											
CSTF3	1479	broad.mit.edu	37	chr11	33117913	33117913	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctggaatgtctccatatttTtttagccccagctcaaaaat	5	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33117913T>G	ENST00000323959.4	-	15	1453	c.1314A>C	c.(1312-1314)aaA>aaC	p.K438N	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	438					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CTCCATATTTTTTTAGCCCCA	0.328													False	0	True	11:33117913	0	G	33117913	T	G	33117913	3	3	88	1	0	0	0	0	1	0	0	0	4011	1838	64	4	867	4	CSTF3	11	33117913	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	130025	33117913	101888603	11509	19221											
CSTF3	1479	broad.mit.edu	37	chr11	33123884	33123884	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttcattactgtctcatatTcctagacaacaaggatttag	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33123884T>G	ENST00000323959.4	-	10	804	c.665A>C	c.(664-666)gAa>gCa	p.E222A	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	222					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGTCTCATATTCCTAGACAAC	0.433													False	0	False	11:33123884	0	G	33123884	T	G	33123884	5	3	88	1	0	0	0	0	0	0	1	0	4011	1797	62	4	1536	4	CSTF3	11	33123884	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5971	33123884	101882632	11510	19222											
HIPK3	10114	broad.mit.edu	37	chr11	33373714	33373714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagccattaataaaaggacGatctgcccctggaagattaa	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33373714G>A	ENST00000303296.4	+	16	3379	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q|HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1025					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ATAAAAGGACGATCTGCCCCT	0.378													False	0	False	11:33373714	0	A	33373714	G	A	33373714	3	1	88	1	0	0	0	0	1	0	0	0	7165	1058	37	1	3132	1	HIPK3	11	33373714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249830	33373714	101632802	11511	19223											
CD59	966	broad.mit.edu	37	chr11	33739011	33739011	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagttgtagcactgcaggCtatgacctagaatcaggaag	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33739011C>A	ENST00000395850.3	-	3	149	c.74G>T	c.(73-75)aGc>aTc	p.S25I	CD59_ENST00000533403.1_Missense_Mutation_p.S25I|CD59_ENST00000528700.1_Missense_Mutation_p.S25I|CD59_ENST00000445143.2_Missense_Mutation_p.S25I|CD59_ENST00000426650.2_Missense_Mutation_p.S25I|CD59_ENST00000527577.1_Missense_Mutation_p.S25I|CD59_ENST00000437761.2_Missense_Mutation_p.S25I|CD59_ENST00000415002.2_Missense_Mutation_p.S25I|CD59_ENST00000351554.3_Missense_Mutation_p.S25I|CD59_ENST00000534312.1_Missense_Mutation_p.S25I	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	25					blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						GCACTGCAGGCTATGACCTAG	0.473													False	0	False	11:33739011	0	A	33739011	C	A	33739011	3	1	88	1	0	0	0	0	1	0	0	0	3049	797	28	3	320	3	CD59	11	33739011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	365297	33739011	101267505	11512	19224											
NAT10	55226	broad.mit.edu	37	chr11	34162000	34162000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccctatgacctgaagcggCtggagatgtattcacggaat	11	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34162000C>A	ENST00000257829.3	+	24	2679	c.2473C>A	c.(2473-2475)Ctg>Atg	p.L825M	NAT10_ENST00000531159.2_Missense_Mutation_p.L753M|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	825	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCTGAAGCGGCTGGAGATGTA	0.572													False	0	False	11:34162000	0	A	34162000	C	A	34162000	3	1	88	1	0	0	0	0	1	0	0	0	10241	796	28	3	2563	3	NAT10	11	34162000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	422989	34162000	100844516	11513	19225											
ABTB2	25841	broad.mit.edu	37	chr11	34181856	34181856	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatgggactgctgccataGcagtgggtgaagatggtagc	18	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34181856G>T	ENST00000435224.2	-	12	2866	c.2442C>A	c.(2440-2442)tgC>tgA	p.C814*	ABTB2_ENST00000298992.2_Nonsense_Mutation_p.C628*	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	628							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGCTGCCATAGCAGTGGGTGA	0.642													False	0	False	11:34181856	0	T	34181856	G	T	34181856	4	4	88	1	0	0	0	0	0	1	0	0	103	963	34	3	659	3	ABTB2	11	34181856	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19856	34181856	100824660	11514	19226											
ABTB2	25841	broad.mit.edu	37	chr11	34194836	34194836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcatccactccatgaggggCggcagcagcatgaagggcct	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34194836C>T	ENST00000435224.2	-	4	1687	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	ABTB2_ENST00000298992.2_Silent_p.P235P|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	235							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCATGAGGGGCGGCAGCAGCA	0.706													False	0	True	11:34194836	0	T	34194836	C	T	34194836	2	4	88	1	0	0	0	0	0	0	0	1	103	755	27	1		1	ABTB2	11	34194836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12980	34194836	100811680	11515	19227											
CAT	847	broad.mit.edu	37	chr11	34482810	34482810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcagggccgcctttttGcctatcctgacactcaccgc	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34482810G>A	ENST00000241052.4	+	9	1158	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	357					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CCGCCTTTTTGCCTATCCTGA	0.473													False	0	True	11:34482810	0	A	34482810	G	A	34482810	3	1	88	1	0	0	0	0	1	0	0	0	2706	1319	46	2	1103	2	CAT	11	34482810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287974	34482810	100523706	11516	19228											
CD44	960	broad.mit.edu	37	chr11	35218302	35218302	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gattacaacagctttgatgaGcactagtgctacagcaactg	9	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35218302G>T	ENST00000428726.2	+	6	800	c.677G>T	c.(676-678)aGc>aTc	p.S226I	CD44_ENST00000437706.2_Missense_Mutation_p.S226I|CD44_ENST00000278386.6_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S226I|CD44_ENST00000433354.2_Missense_Mutation_p.S226I|CD44_ENST00000433892.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000263398.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	226	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	GCTTTGATGAGCACTAGTGCT	0.373													False	0	False	11:35218302	0	T	35218302	G	T	35218302	3	4	88	1	0	0	0	0	1	0	0	0	3040	971	34	3	699	3	CD44	11	35218302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	735492	35218302	99788214	11517	19229											
CD44	960	broad.mit.edu	37	chr11	35250775	35250775	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaggccagcaagtctcaggaAatggtgcatttggtgaacaa	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35250775A>T	ENST00000263398.6	+	9	1415	c.981A>T	c.(979-981)gaA>gaT	p.E327D	CD44_ENST00000437706.2_Missense_Mutation_p.E640D|CD44_ENST00000278386.6_Missense_Mutation_p.N121Y|CD44_ENST00000360158.4_Missense_Mutation_p.E362D|CD44_ENST00000415148.2_Missense_Mutation_p.E665D|CD44_ENST00000352818.4_Missense_Mutation_p.E306D|CD44_ENST00000449691.2_Missense_Mutation_p.E665D|CD44_ENST00000428726.2_Missense_Mutation_p.E708D|CD44_ENST00000433354.2_Missense_Mutation_p.E680D|CD44_ENST00000433892.2_Missense_Mutation_p.E459D|CD44_ENST00000434472.2_Missense_Mutation_p.E395D|CD44_ENST00000526669.2_Missense_Mutation_p.E172D	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	708	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AGTCTCAGGAAATGGTGCATT	0.498													False	0	True	11:35250775	0	T	35250775	A	T	35250775	3	4	88	1	0	0	0	0	1	0	0	0	3040	14	1	5	2194	5	CD44	11	35250775	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32473	35250775	99755741	11518	19230											
SLC1A2	6506	broad.mit.edu	37	chr11	35338932	35338932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtacctaccaaacaccGtcagggtgagcagcagattc	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35338932G>A	ENST00000278379.3	-	2	431	c.149C>T	c.(148-150)aCg>aTg	p.T50M	SLC1A2_ENST00000606205.1_Missense_Mutation_p.T50M|SLC1A2_ENST00000395750.1_Missense_Mutation_p.T41M|SLC1A2_ENST00000395753.1_Missense_Mutation_p.T41M	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	50				T -> Q (in Ref. 2; AAA18900).	D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ACCAAACACCGTCAGGGTGAG	0.622													False	0	False	11:35338932	0	A	35338932	G	A	35338932	3	1	88	1	0	0	0	0	1	0	0	0	14513	1145	40	1	1615	1	SLC1A2	11	35338932	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88157	35338932	99667584	11519	19231											
PAMR1	25891	broad.mit.edu	37	chr11	35461197	35461197	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgactgaacctgcatcggaaGaactctccttctcaccaggt	8	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35461197G>T	ENST00000378880.2	-	8	1523	c.1078C>A	c.(1078-1080)Ctt>Att	p.L360I	PAMR1_ENST00000378878.3_Missense_Mutation_p.L249I|PAMR1_ENST00000532848.1_Missense_Mutation_p.L320I|PAMR1_ENST00000278360.3_Missense_Mutation_p.L377I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	360					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCATCGGAAGAACTCTCCTT	0.453													False	0	False	11:35461197	0	T	35461197	G	T	35461197	3	4	88	1	0	0	0	0	1	0	0	0	11481	942	33	3	1100	3	PAMR1	11	35461197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122265	35461197	99545319	11520	19232											
LDLRAD3	143458	broad.mit.edu	37	chr11	36248778	36248778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgcaccaccagcggaagCggaacaacctcatgacgctg	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36248778C>T	ENST00000315571.5	+	5	619	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.R151W|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.R190W|LDLRAD3_ENST00000529759.1_3'UTR	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	200						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCAGCGGAAGCGGAACAACCT	0.617													False	0	True	11:36248778	0	T	36248778	C	T	36248778	3	4	88	1	0	0	0	0	1	0	0	0	8758	759	27	1	616	1	LDLRAD3	11	36248778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	787581	36248778	98757738	11521	19233											
PRR5L	79899	broad.mit.edu	37	chr11	36422814	36422814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcaggctctgcagctgaGctccagctcagcctggaaca	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36422814G>A	ENST00000378867.3	+	3	498	c.143G>A	c.(142-144)aGc>aAc	p.S48N	PRR5L_ENST00000527487.1_Missense_Mutation_p.S48N|PRR5L_ENST00000311599.5_Missense_Mutation_p.S22N|PRR5L_ENST00000530639.1_Missense_Mutation_p.S48N|PRR5L_ENST00000389693.3_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	48										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CTGCAGCTGAGCTCCAGCTCA	0.657													False	0	False	11:36422814	0	A	36422814	G	A	36422814	3	1	88	1	0	0	0	0	1	0	0	0	12678	971	34	2	151	2	PRR5L	11	36422814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174036	36422814	98583702	11522	19234											
PRR5L	79899	broad.mit.edu	37	chr11	36484237	36484237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacggactggaggagggggCcaggggcagccaggagggct	22	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36484237C>T	ENST00000378867.3	+	10	1413	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	PRR5L_ENST00000311599.5_Missense_Mutation_p.A280V|PRR5L_ENST00000530639.1_Missense_Mutation_p.A353V|PRR5L_ENST00000389693.3_3'UTR	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	353										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GAGGAGGGGGCCAGGGGCAGC	0.642													False	0	True	11:36484237	0	T	36484237	C	T	36484237	3	4	88	1	0	0	0	0	1	0	0	0	12678	739	26	2	1094	2	PRR5L	11	36484237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61423	36484237	98522279	11523	19235											
RAG1	5896	broad.mit.edu	37	chr11	36596004	36596004	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagtcacaaggaatcaaaaGagatttttgtgcacattaat	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36596004G>T	ENST00000299440.5	+	2	1262	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	384					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAATCAAAAGAGATTTTTGT	0.478									Familial Hemophagocytic Lymphohistiocytosis				False	0	True	11:36596004	0	T	36596004	G	T	36596004	4	4	88	1	0	0	0	0	0	1	0	0	13082	943	33	3	1152	3	RAG1	11	36596004	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111767	36596004	98410512	11524	19236											
LRRC4C	57689	broad.mit.edu	37	chr11	40136372	40136372	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtggtgtgagagaggTggtcacattggtggtctccc	16	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:40136372T>G	ENST00000278198.2	-	2	3434	c.1471A>C	c.(1471-1473)Acc>Ccc	p.T491P	LRRC4C_ENST00000528697.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T491P|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T491P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	491					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGAGAGAGGTGGTCACATTG	0.512													False	0	False	11:40136372	0	G	40136372	T	G	40136372	3	3	88	1	0	0	0	0	1	0	0	0	9070	1696	59	4	455	4	LRRC4C	11	40136372	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3540368	40136372	94870144	11525	19237											
LRRC4C	57689	broad.mit.edu	37	chr11	40136995	40136995	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggagtgaagaggtcatgaGgcagtaatgttagattattg	15	2	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:40136995G>T	ENST00000278198.2	-	2	2811	c.848C>A	c.(847-849)cCt>cAt	p.P283H	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P283H|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P283H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	283					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGGTCATGAGGCAGTAATGT	0.443													False	0	False	11:40136995	0	T	40136995	G	T	40136995	3	4	88	1	0	0	0	0	1	0	0	0	9070	1000	35	3	1078	3	LRRC4C	11	40136995	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	623	40136995	94869521	11526	19238											
API5	8539	broad.mit.edu	37	chr11	43342961	43342961	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gccactttttctttatccagAtgactctgcagaatttaacc	5	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43342961A>C	ENST00000378852.3	+	4	451	c.326A>C	c.(325-327)gAt>gCt	p.D109A	API5_ENST00000420461.2_Splice_Site_p.D55A|API5_ENST00000531273.1_Splice_Site_p.D109A|API5_ENST00000534600.1_Splice_Site_p.D109A|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Splice_Site_p.D98A	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	109					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CTTTATCCAGATGACTCTGCA	0.303													False	0	False	11:43342961	0	C	43342961	A	C	43342961	5	2	88	1	0	0	0	0	0	0	1	0	775	347	12	4	340	4	API5	11	43342961	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3205966	43342961	91663555	11527	19239											
API5	8539	broad.mit.edu	37	chr11	43345051	43345051	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgggttaaaaagcttacaGacagtgagtggaagacagca	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43345051G>A	ENST00000378852.3	+	6	740	c.615G>A	c.(613-615)caG>caA	p.Q205Q	API5_ENST00000420461.2_Silent_p.Q151Q|API5_ENST00000531273.1_Silent_p.Q205Q|API5_ENST00000534600.1_Silent_p.Q205Q|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Silent_p.Q194Q	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	205					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.L204_S208delLQTVS(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AAAGCTTACAGACAGTGAGTG	0.443													False	0	True	11:43345051	0	A	43345051	G	A	43345051	2	1	88	1	0	0	0	0	0	0	0	1	775	933	33	2		2	API5	11	43345051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2090	43345051	91661465	11528	19240											
API5	8539	broad.mit.edu	37	chr11	43345158	43345158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggacaggctcttacagtGcactcggcaggcagtacccc	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43345158G>A	ENST00000378852.3	+	6	847	c.722G>A	c.(721-723)tGc>tAc	p.C241Y	API5_ENST00000420461.2_Missense_Mutation_p.C187Y|API5_ENST00000531273.1_Missense_Mutation_p.C241Y|API5_ENST00000534600.1_Missense_Mutation_p.C241Y|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.C230Y	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	241					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CTCTTACAGTGCACTCGGCAG	0.458													False	0	False	11:43345158	0	A	43345158	G	A	43345158	3	1	88	1	0	0	0	0	1	0	0	0	775	1319	46	2	744	2	API5	11	43345158	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107	43345158	91661358	11529	19241											
API5	8539	broad.mit.edu	37	chr11	43351531	43351531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggctgcagtactttgcaCggggcctgcaagtttatatc	11	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43351531C>T	ENST00000378852.3	+	10	1269	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	API5_ENST00000420461.2_Missense_Mutation_p.R328W|API5_ENST00000531273.1_Missense_Mutation_p.R382W|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000534600.1_Missense_Mutation_p.R382W|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.R371W	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	382	Leucine-zipper.				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GTACTTTGCACGGGGCCTGCA	0.373													False	0	True	11:43351531	0	T	43351531	C	T	43351531	3	4	88	1	0	0	0	0	1	0	0	0	775	527	19	1	1182	1	API5	11	43351531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6373	43351531	91654985	11530	19242											
API5	8539	broad.mit.edu	37	chr11	43357578	43357578	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttgggtacaaggaatatgaGagattaggcagaaattgtgt	13	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43357578G>T	ENST00000534600.1	+	13	1558	c.1526G>T	c.(1525-1527)aGa>aTa	p.R509I	API5_ENST00000420461.2_Intron|API5_ENST00000531273.1_Intron|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000378852.3_Intron|API5_ENST00000529334.1_Intron|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Intron			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	509					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AGGAATATGAGAGATTAGGCA	0.363													False	0	True	11:43357578	0	T	43357578	G	T	43357578	3	4	88	1	0	0	0	0	1	0	0	0	775	957	33	3		3	API5	11	43357578	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6047	43357578	91648938	11531	19243											
TTC17	55761	broad.mit.edu	37	chr11	43418341	43418341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatcaggtagtagaatgtgCcatgcgagcacttcacttct	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418341C>T	ENST00000039989.4	+	6	760	c.746C>T	c.(745-747)gCc>gTc	p.A249V	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.A249V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	249							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTAGAATGTGCCATGCGAGCA	0.393													False	0	False	11:43418341	0	T	43418341	C	T	43418341	3	4	88	1	0	0	0	0	1	0	0	0	16768	739	26	2	768	2	TTC17	11	43418341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60763	43418341	91588175	11532	19244											
TTC17	55761	broad.mit.edu	37	chr11	43418898	43418898	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtgctgctttccttaggCacaataaagacattgccctg	8	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418898C>T	ENST00000039989.4	+	7	789	c.775C>T	c.(775-777)Cac>Tac	p.H259Y	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Splice_Site_p.H259Y	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	259							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTTCCTTAGGCACAATAAAGA	0.438													False	0	False	11:43418898	0	T	43418898	C	T	43418898	5	4	88	1	0	0	0	0	0	0	1	0	16768	724	25	2	801	2	TTC17	11	43418898	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	557	43418898	91587618	11533	19245											
TTC17	55761	broad.mit.edu	37	chr11	43423045	43423045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcatagtttacattgCcagtgggaccagcctgtacg	11	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43423045C>T	ENST00000039989.4	+	10	1283	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.C423C	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	423							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTTTACATTGCCAGTGGGACC	0.408													False	0	False	11:43423045	0	T	43423045	C	T	43423045	2	4	88	1	0	0	0	0	0	0	0	1	16768	747	26	2		2	TTC17	11	43423045	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4147	43423045	91583471	11534	19246											
HSD17B12	51144	broad.mit.edu	37	chr11	43837021	43837021	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgtatgagtatcctgaAtactttttggatgttcctga	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43837021A>G	ENST00000278353.4	+	5	545	c.426A>G	c.(424-426)gaA>gaG	p.E142E	HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	142					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						AGTATCCTGAATACTTTTTGG	0.313													False	0	False	11:43837021	0	G	43837021	A	G	43837021	2	3	88	1	0	0	0	0	0	0	0	1	7428	98	4	4		4	HSD17B12	11	43837021	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	413976	43837021	91169495	11535	19247											
ACCSL	390110	broad.mit.edu	37	chr11	44069708	44069708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacttgcagcaggccatgaCggagcacttcgtgcagctga	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44069708C>T	ENST00000378832.1	+	1	178	c.122C>T	c.(121-123)aCg>aTg	p.T41M		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	41							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CAGGCCATGACGGAGCACTTC	0.592													False	0	False	11:44069708	0	T	44069708	C	T	44069708	3	4	88	1	0	0	0	0	1	0	0	0	134	536	19	1	124	1	ACCSL	11	44069708	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232687	44069708	90936808	11536	19248											
ACCSL	390110	broad.mit.edu	37	chr11	44074969	44074969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcttaggggaaaaaggtccGaggccttgtgctaatcaacc	11	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44074969G>A	ENST00000378832.1	+	8	1018	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	321							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AAAAAGGTCCGAGGCCTTGTG	0.433													False	0	False	11:44074969	0	A	44074969	G	A	44074969	3	1	88	1	0	0	0	0	1	0	0	0	134	1058	37	1	992	1	ACCSL	11	44074969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5261	44074969	90931547	11537	19249											
ACCSL	390110	broad.mit.edu	37	chr11	44080142	44080142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacggctcctctattgccGcttcctggacaacaagctat	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44080142G>A	ENST00000378832.1	+	13	1573	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	506							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTCTATTGCCGCTTCCTGGAC	0.542													False	0	False	11:44080142	0	A	44080142	G	A	44080142	3	1	88	1	0	0	0	0	1	0	0	0	134	1087	38	1	1567	1	ACCSL	11	44080142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5173	44080142	90926374	11538	19250											
ACCS	84680	broad.mit.edu	37	chr11	44105286	44105286	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgcaggcaaatcccaaGtggcagaagacccccgtccc	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44105286G>T	ENST00000263776.8	+	15	1884	c.1450G>T	c.(1450-1452)Gtg>Ttg	p.V484L		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	484							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CAAATCCCAAGTGGCAGAAGA	0.627													False	0	False	11:44105286	0	T	44105286	G	T	44105286	3	4	88	1	0	0	0	0	1	0	0	0	133	1029	36	3	1504	3	ACCS	11	44105286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25144	44105286	90901230	11539	19251											
EXT2	2132	broad.mit.edu	37	chr11	44129365	44129365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctcttctccattgtcctcCtgggcctcattgccactggc	7	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44129365C>A	ENST00000395673.3	+	2	258	c.202C>A	c.(202-204)Ctg>Atg	p.L68M	EXT2_ENST00000533608.1_Missense_Mutation_p.L35M|EXT2_ENST00000358681.4_Missense_Mutation_p.L35M|EXT2_ENST00000343631.3_Missense_Mutation_p.L35M	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	35					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATTGTCCTCCTGGGCCTCAT	0.512			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				False	0	False	11:44129365	0	A	44129365	C	A	44129365	3	1	88	1	0	0	0	0	1	0	0	0	5357	680	24	3	208	3	EXT2	11	44129365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24079	44129365	90877151	11540	19252											
EXT2	2132	broad.mit.edu	37	chr11	44148421	44148421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgggccaggcagtattgaGcgatgtgttacaagctggct	15	8	0	1	rs148493676		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44148421G>T	ENST00000395673.3	+	6	1150	c.1094G>T	c.(1093-1095)aGc>aTc	p.S365I	EXT2_ENST00000533608.1_Missense_Mutation_p.S332I|EXT2_ENST00000358681.4_Missense_Mutation_p.S332I|EXT2_ENST00000343631.3_Missense_Mutation_p.S332I	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	332					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCAGTATTGAGCGATGTGTTA	0.493			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				False	0	False	11:44148421	0	T	44148421	G	T	44148421	3	4	88	1	0	0	0	0	1	0	0	0	5357	971	34	3	1116	3	EXT2	11	44148421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19056	44148421	90858095	11541	19253											
EXT2	2132	broad.mit.edu	37	chr11	44253909	44253909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctgtccttaggtctggCgggaatttcctgaccggttg	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44253909C>T	ENST00000395673.3	+	11	1824	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	EXT2_ENST00000533608.1_Missense_Mutation_p.R557W|EXT2_ENST00000358681.4_Missense_Mutation_p.R567W|EXT2_ENST00000343631.3_Missense_Mutation_p.R557W	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	557					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTAGGTCTGGCGGGAATTTCC	0.473			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				False	0	True	11:44253909	0	T	44253909	C	T	44253909	3	4	88	1	0	0	0	0	1	0	0	0	5357	759	27	1	1907	1	EXT2	11	44253909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105488	44253909	90752607	11542	19254											
ALX4	60529	broad.mit.edu	37	chr11	44296954	44296954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgttcccgcgcatacaCgtctgggtagtgggtcttct	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44296954C>T	ENST00000329255.3	-	2	824	c.721G>A	c.(721-723)Gtg>Atg	p.V241M		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	241					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCGCATACACGTCTGGGTAG	0.612													False	0	False	11:44296954	0	T	44296954	C	T	44296954	3	4	88	1	0	0	0	0	1	0	0	0	558	536	19	1	526	1	ALX4	11	44296954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43045	44296954	90709562	11543	19255											
PRDM11	56981	broad.mit.edu	37	chr11	45246288	45246288	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcgcctaaagaagaaggtTcgggagctccaggcagaatt	12	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45246288T>C	ENST00000263765.4	+	8	1614	c.1365T>C	c.(1363-1365)gtT>gtC	p.V455V	PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000530656.1_Silent_p.V455V|PRDM11_ENST00000424263.2_Silent_p.V421V|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	455										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGAAGAAGGTTCGGGAGCTCC	0.547													False	0	False	11:45246288	0	C	45246288	T	C	45246288	2	2	88	1	0	0	0	0	0	0	0	1	12528	1770	62	4		4	PRDM11	11	45246288	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	949334	45246288	89760228	11544	19256											
SYT13	57586	broad.mit.edu	37	chr11	45265679	45265679	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctcccagtggctgcgctcaGagcccgaggtgtgcaggccc	14	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45265679G>T	ENST00000020926.3	-	6	1316	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	402						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCTGCGCTCAGAGCCCGAGGT	0.647													False	0	False	11:45265679	0	T	45265679	G	T	45265679	3	4	88	1	0	0	0	0	1	0	0	0	15551	942	33	3	79	3	SYT13	11	45265679	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19391	45265679	89740837	11545	19257											
SYT13	57586	broad.mit.edu	37	chr11	45307687	45307687	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacacaggcaggtgaccccGcacaacgcgaggatgctggt	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45307687G>T	ENST00000020926.3	-	1	183	c.72C>A	c.(70-72)tgC>tgA	p.C24*		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	24						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AGGTGACCCCGCACAACGCGA	0.706													False	0	True	11:45307687	0	T	45307687	G	T	45307687	4	4	88	1	0	0	0	0	0	1	0	0	15551	1079	38	3	1232	3	SYT13	11	45307687	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42008	45307687	89698829	11546	19258											
SLC35C1	55343	broad.mit.edu	37	chr11	45832503	45832503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttctacaacaacgtcaacGcctgcatcctcttcctgccc	4	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45832503G>A	ENST00000314134.3	+	2	2108	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	SLC35C1_ENST00000442528.2_Missense_Mutation_p.A225T|SLC35C1_ENST00000456334.1_Missense_Mutation_p.A225T	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	238						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CAACGTCAACGCCTGCATCCT	0.627													False	0	False	11:45832503	0	A	45832503	G	A	45832503	3	1	88	1	0	0	0	0	1	0	0	0	14659	1087	38	1	718	1	SLC35C1	11	45832503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	524816	45832503	89174013	11547	19259											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45924210	45924210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgcagagcccacctccGccttcctgccgcccactgag	9	20	0	2	rs141639373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45924210G>A	ENST00000395629.2	+	5	1192	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.A298T			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	298					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GCCCACCTCCGCCTTCCTGCC	0.662													False	0	False	11:45924210	0	A	45924210	G	A	45924210	3	1	88	1	0	0	0	0	1	0	0	0	9351	1087	38	1	910	1	MAPK8IP1	11	45924210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91707	45924210	89082306	11548	19260											
C11orf94	143678	broad.mit.edu	37	chr11	45928146	45928146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtgcatcatagtaatactCggcaaggtcgggcccgtccc	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45928146C>T	ENST00000449465.1	-	3	307	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	91						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TAGTAATACTCGGCAAGGTCG	0.607													False	0	False	11:45928146	0	T	45928146	C	T	45928146	3	4	88	1	0	0	0	0	1	0	0	0	1682	893	31	1	29	1	C11orf94	11	45928146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3936	45928146	89078370	11549	19261											
PEX16	9409	broad.mit.edu	37	chr11	45931662	45931662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtgtcctgggaggaacGctggtggcgaccagggctgt	19	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45931662G>A	ENST00000241041.3	-	11	1036	c.1019C>T	c.(1018-1020)gCg>gTg	p.A340V		NM_004813.2|NM_057174.2	NP_004804.1|NP_476515	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	0					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGGGAGGAACGCTGGTGGCGA	0.642													False	0	False	11:45931662	0	A	45931662	G	A	45931662	3	1	88	1	0	0	0	0	1	0	0	0	11812	1087	38	1	25	1	PEX16	11	45931662	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3516	45931662	89074854	11550	19262											
GYLTL1B	120071	broad.mit.edu	37	chr11	45948141	45948141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccagcccccacctggtgCtgagcaggtgagaaggagtc	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45948141C>A	ENST00000531526.1	+	9	1268	c.1157C>A	c.(1156-1158)gCt>gAt	p.A386D	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A386D|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A386D|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A355D|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.A113D	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	386					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCACCTGGTGCTGAGCAGGTG	0.592													False	0	False	11:45948141	0	A	45948141	C	A	45948141	3	1	88	1	0	0	0	0	1	0	0	0	6954	797	28	3	1187	3	GYLTL1B	11	45948141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16479	45948141	89058375	11551	19263											
PHF21A	51317	broad.mit.edu	37	chr11	45992707	45992707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaatttggacagcctctGccccaggcccagtgacctta	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45992707G>A	ENST00000257821.4	-	7	1195	c.572C>T	c.(571-573)gCa>gTa	p.A191V	PHF21A_ENST00000418153.2_Missense_Mutation_p.A191V|PHF21A_ENST00000323180.6_Missense_Mutation_p.A191V	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	191					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GACAGCCTCTGCCCCAGGCCC	0.512													False	0	True	11:45992707	0	A	45992707	G	A	45992707	3	1	88	1	0	0	0	0	1	0	0	0	11902	1319	46	2	1548	2	PHF21A	11	45992707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44566	45992707	89013809	11552	19264											
CREB3L1	90993	broad.mit.edu	37	chr11	46332593	46332593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccccagaggacctggtGcagatgcctccgacgccccc	10	19	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46332593G>A	ENST00000529193.1	+	5	1057	c.606G>A	c.(604-606)gtG>gtA	p.V202V	CREB3L1_ENST00000288400.3_Silent_p.V202V			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	202					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		AGGACCTGGTGCAGATGCCTC	0.637			T	FUS	myxofibrosarcoma								False	0	False	11:46332593	0	A	46332593	G	A	46332593	2	1	88	1	0	0	0	0	0	0	0	1	3879	1306	46	2		2	CREB3L1	11	46332593	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339886	46332593	88673923	11553	19265											
CREB3L1	90993	broad.mit.edu	37	chr11	46341984	46341984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcacctggacagcacccaCgagaccaccaagtacctgag	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46341984C>T	ENST00000529193.1	+	11	1879	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	CREB3L1_ENST00000288400.3_Silent_p.H476H			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	476					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		ACAGCACCCACGAGACCACCA	0.652			T	FUS	myxofibrosarcoma								False	0	False	11:46341984	0	T	46341984	C	T	46341984	2	4	88	1	0	0	0	0	0	0	0	1	3879	535	19	1		1	CREB3L1	11	46341984	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9391	46341984	88664532	11554	19266											
CREB3L1	90993	broad.mit.edu	37	chr11	46342045	46342045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggaaacggcaccagccccGacttctcccactccaaggag	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46342045G>A	ENST00000529193.1	+	11	1940	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	CREB3L1_ENST00000288400.3_Missense_Mutation_p.D497N			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	497					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CACCAGCCCCGACTTCTCCCA	0.632			T	FUS	myxofibrosarcoma								False	0	True	11:46342045	0	A	46342045	G	A	46342045	3	1	88	1	0	0	0	0	1	0	0	0	3879	1058	37	1	1531	1	CREB3L1	11	46342045	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61	46342045	88664471	11555	19267											
DGKZ	8525	broad.mit.edu	37	chr11	46387834	46387834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctttaggagacatttcCgggggaaggtgccaggccct	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46387834C>T	ENST00000454345.1	+	2	153	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	10					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GAGACATTTCCGGGGGAAGGT	0.677													False	0	True	11:46387834	0	T	46387834	C	T	46387834	3	4	88	1	0	0	0	0	1	0	0	0	4504	643	23	1	474	1	DGKZ	11	46387834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45789	46387834	88618682	11556	19268											
DGKZ	8525	broad.mit.edu	37	chr11	46387913	46387913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggcaaggcccggcgtcGctcccccgctgggcaggcct	14	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46387913G>A	ENST00000454345.1	+	2	232	c.107G>A	c.(106-108)cGc>cAc	p.R36H	DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	36					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCCCGGCGTCGCTCCCCCGCT	0.716													False	0	False	11:46387913	0	A	46387913	G	A	46387913	3	1	88	1	0	0	0	0	1	0	0	0	4504	1087	38	1	553	1	DGKZ	11	46387913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	46387913	88618603	11557	19269											
DGKZ	8525	broad.mit.edu	37	chr11	46399765	46399765	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtcactgcaaggggatgCtgcaccccctcaaggtgagg	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46399765C>A	ENST00000454345.1	+	27	3049	c.2924C>A	c.(2923-2925)gCt>gAt	p.A975D	DGKZ_ENST00000318201.8_Missense_Mutation_p.A764D|DGKZ_ENST00000456247.2_Missense_Mutation_p.A786D|DGKZ_ENST00000395574.3_Missense_Mutation_p.A753D|DGKZ_ENST00000421244.2_Missense_Mutation_p.A787D|DGKZ_ENST00000343674.6_Missense_Mutation_p.A803D|DGKZ_ENST00000532868.2_Missense_Mutation_p.A791D|DGKZ_ENST00000528615.1_Missense_Mutation_p.A565D|DGKZ_ENST00000527911.1_Missense_Mutation_p.A787D|DGKZ_ENST00000543978.1_Missense_Mutation_p.A139D	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	975					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CAAGGGGATGCTGCACCCCCT	0.657													False	0	False	11:46399765	0	A	46399765	C	A	46399765	3	1	88	1	0	0	0	0	1	0	0	0	4504	797	28	3	3473	3	DGKZ	11	46399765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11852	46399765	88606751	11558	19270											
MDK	4192	broad.mit.edu	37	chr11	46404188	46404188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgtgatgggggcacagGcaccaaagtccgccaaggca	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46404188G>A	ENST00000405308.2	+	4	725	c.296G>A	c.(295-297)gGc>gAc	p.G99D	MDK_ENST00000533283.1_3'UTR|MDK_ENST00000395566.4_Missense_Mutation_p.G99D|MDK_ENST00000395569.4_Missense_Mutation_p.G43D|MDK_ENST00000407067.1_Missense_Mutation_p.G99D|MDK_ENST00000359803.3_Missense_Mutation_p.G99D|MDK_ENST00000395565.1_Missense_Mutation_p.G99D	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)	99					adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		GGGGGCACAGGCACCAAAGTC	0.657													False	0	False	11:46404188	0	A	46404188	G	A	46404188	3	1	88	1	0	0	0	0	1	0	0	0	9478	1203	42	2	306	2	MDK	11	46404188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4423	46404188	88602328	11559	19271											
CHRM4	1132	broad.mit.edu	37	chr11	46407334	46407334	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccgggcggcctccccgggCgggggcttcttgacgctctg	16	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46407334C>A	ENST00000433765.2	-	1	773	c.774G>T	c.(772-774)ccG>ccT	p.P258P		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	258					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CCTCCCCGGGCGGGGGCTTCT	0.687													False	0	True	11:46407334	0	A	46407334	C	A	46407334	2	1	88	1	0	0	0	0	0	0	0	1	3402	755	27	3		3	CHRM4	11	46407334	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3146	46407334	88599182	11560	19272											
AMBRA1	55626	broad.mit.edu	37	chr11	46419133	46419133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaagggaaacaggaatgGggacaggggaggaagagggc	22	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46419133G>A	ENST00000458649.2	-	18	4182	c.3764C>T	c.(3763-3765)cCc>cTc	p.P1255L	AMBRA1_ENST00000298834.3_Missense_Mutation_p.P1195L|AMBRA1_ENST00000528950.1_Missense_Mutation_p.P1226L|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P1165L|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P1136L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P1195L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P1226L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1255					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AACAGGAATGGGGACAGGGGA	0.647													False	0	True	11:46419133	0	A	46419133	G	A	46419133	3	1	88	1	0	0	0	0	1	0	0	0	565	1232	43	2	136	2	AMBRA1	11	46419133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11799	46419133	88587383	11561	19273											
AMBRA1	55626	broad.mit.edu	37	chr11	46419227	46419227	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgggggcttaggcctcGctctgccagttgcccggcct	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46419227G>A	ENST00000458649.2	-	18	4088	c.3670C>T	c.(3670-3672)Cga>Tga	p.R1224*	AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R1195*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R1134*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R1105*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R1164*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R1195*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1224					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTTAGGCCTCGCTCTGCCAGT	0.692													False	0	False	11:46419227	0	A	46419227	G	A	46419227	4	1	88	1	0	0	0	0	0	1	0	0	565	1095	38	1	230	1	AMBRA1	11	46419227	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	46419227	88587289	11562	19274											
AMBRA1	55626	broad.mit.edu	37	chr11	46430125	46430125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctcagtctgtgtttcgGcattctgcagctgaagggcc	11	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46430125G>A	ENST00000458649.2	-	17	3759	c.3341C>T	c.(3340-3342)gCc>gTc	p.A1114V	AMBRA1_ENST00000298834.3_Missense_Mutation_p.A1054V|AMBRA1_ENST00000528950.1_Missense_Mutation_p.A1085V|AMBRA1_ENST00000314845.3_Missense_Mutation_p.A1024V|AMBRA1_ENST00000533727.1_Missense_Mutation_p.A995V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.A1054V|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A1085V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1114					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTGTGTTTCGGCATTCTGCAG	0.632													False	0	False	11:46430125	0	A	46430125	G	A	46430125	3	1	88	1	0	0	0	0	1	0	0	0	565	1203	42	2	563	2	AMBRA1	11	46430125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10898	46430125	88576391	11563	19275											
HARBI1	283254	broad.mit.edu	37	chr11	46637220	46637220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgccgggccagtttgtctCcacggtcattagtgtccctc	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46637220C>T	ENST00000326737.3	-	2	815	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	190						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CAGTTTGTCTCCACGGTCATT	0.512													False	0	False	11:46637220	0	T	46637220	C	T	46637220	3	4	88	1	0	0	0	0	1	0	0	0	7005	864	30	2	489	2	HARBI1	11	46637220	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207095	46637220	88369296	11564	19276											
ARHGAP1	392	broad.mit.edu	37	chr11	46717607	46717607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagctggttcagagcctcGctggtgtcatccaaggtcag	12	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46717607G>A	ENST00000311956.4	-	2	148	c.51C>T	c.(49-51)agC>agT	p.S17S		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	17					Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TCAGAGCCTCGCTGGTGTCAT	0.567													False	0	False	11:46717607	0	A	46717607	G	A	46717607	2	1	88	1	0	0	0	0	0	0	0	1	863	1078	38	1		1	ARHGAP1	11	46717607	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80387	46717607	88288909	11565	19277											
ZNF408	79797	broad.mit.edu	37	chr11	46726259	46726259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcttccctacactctcgCggagccctcctggcccagca	9	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46726259C>T	ENST00000311764.2	+	5	1239	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	337			R -> P (in dbSNP:rs36017347).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TACACTCTCGCGGAGCCCTCC	0.612													False	0	False	11:46726259	0	T	46726259	C	T	46726259	3	4	88	1	0	0	0	0	1	0	0	0	17971	759	27	1	1059	1	ZNF408	11	46726259	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8652	46726259	88280257	11566	19278											
ZNF408	79797	broad.mit.edu	37	chr11	46726961	46726961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgctccgagctcacgagCgcctgcactccggagagagg	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46726961C>T	ENST00000311764.2	+	5	1941	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTCACGAGCGCCTGCACTC	0.652													False	0	False	11:46726961	0	T	46726961	C	T	46726961	3	4	88	1	0	0	0	0	1	0	0	0	17971	768	27	1	1761	1	ZNF408	11	46726961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	702	46726961	88279555	11567	19279											
F2	2147	broad.mit.edu	37	chr11	46744800	46744800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccggtcaggcattgagtgCcagctatggaggagtcgcta	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46744800C>T	ENST00000311907.5	+	5	443	c.387C>T	c.(385-387)tgC>tgT	p.C129C	F2_ENST00000530231.1_Silent_p.C129C	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	129	Kringle 1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCATTGAGTGCCAGCTATGGA	0.607													False	0	False	11:46744800	0	T	46744800	C	T	46744800	2	4	88	1	0	0	0	0	0	0	0	1	5375	747	26	2		2	F2	11	46744800	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17839	46744800	88261716	11568	19280											
CKAP5	9793	broad.mit.edu	37	chr11	46771875	46771875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctctccatctcaatcacccGaaggcctctttcgacatagc	5	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46771875G>A	ENST00000529230.1	-	42	5699	c.5653C>T	c.(5653-5655)Cgg>Tgg	p.R1885W	CKAP5_ENST00000415402.1_Missense_Mutation_p.R1892W|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1825W|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1825W			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1885					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCAATCACCCGAAGGCCTCTT	0.413													False	0	True	11:46771875	0	A	46771875	G	A	46771875	3	1	88	1	0	0	0	0	1	0	0	0	3468	1057	37	1	457	1	CKAP5	11	46771875	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27075	46771875	88234641	11569	19281											
CKAP5	9793	broad.mit.edu	37	chr11	46784532	46784532	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacaccacattaccttgacGacaagataggggatgaagga	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46784532G>A	ENST00000529230.1	-	30	3931	c.3885C>T	c.(3883-3885)gtC>gtT	p.V1295V	CKAP5_ENST00000415402.1_Silent_p.V1295V|CKAP5_ENST00000312055.5_Silent_p.V1295V|CKAP5_ENST00000354558.3_Silent_p.V1295V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1295					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTACCTTGACGACAAGATAGG	0.383													False	0	False	11:46784532	0	A	46784532	G	A	46784532	2	1	88	1	0	0	0	0	0	0	0	1	3468	1045	37	1		1	CKAP5	11	46784532	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12657	46784532	88221984	11570	19282											
CKAP5	9793	broad.mit.edu	37	chr11	46800054	46800054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacgacatcattgctcccGtcatctggttcatctccatc	5	15	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46800054G>A	ENST00000529230.1	-	21	2575	c.2529C>T	c.(2527-2529)gaC>gaT	p.D843D	CKAP5_ENST00000415402.1_Silent_p.D843D|CKAP5_ENST00000312055.5_Silent_p.D843D|CKAP5_ENST00000354558.3_Silent_p.D843D			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	843					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CATTGCTCCCGTCATCTGGTT	0.438													False	0	True	11:46800054	0	A	46800054	G	A	46800054	2	1	88	1	0	0	0	0	0	0	0	1	3468	1136	40	1		1	CKAP5	11	46800054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15522	46800054	88206462	11571	19283											
LRP4	4038	broad.mit.edu	37	chr11	46911059	46911059	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtgcgtgcagcctccGttgttgtccccacagcggtt	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46911059G>A	ENST00000378623.1	-	16	2360	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	706	EGF-like 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCAGCCTCCGTTGTTGTCCC	0.587											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:46911059	0	A	46911059	G	A	46911059	2	1	88	1	0	0	0	0	0	0	0	1	9021	1136	40	1		1	LRP4	11	46911059	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111005	46911059	88095457	11572	19284											
LRP4	4038	broad.mit.edu	37	chr11	46914620	46914620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagattggccacctcaatcCtcgaggtgcctgagtcggtc	11	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46914620C>A	ENST00000378623.1	-	13	1843	c.1601G>T	c.(1600-1602)aGg>aTg	p.R534M		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	534					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACCTCAATCCTCGAGGTGCC	0.577													False	0	False	11:46914620	0	A	46914620	C	A	46914620	3	1	88	1	0	0	0	0	1	0	0	0	9021	681	24	3	4220	3	LRP4	11	46914620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3561	46914620	88091896	11573	19285											
LRP4	4038	broad.mit.edu	37	chr11	46917842	46917842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctctgcccaatgcagcGcccattccaacacaggaact	6	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46917842G>A	ENST00000378623.1	-	9	1209	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	323	LDL-receptor class A 8.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCAATGCAGCGCCCATTCCAA	0.577													False	0	True	11:46917842	0	A	46917842	G	A	46917842	3	1	88	1	0	0	0	0	1	0	0	0	9021	1087	38	1	4870	1	LRP4	11	46917842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3222	46917842	88088674	11574	19286											
LRP4	4038	broad.mit.edu	37	chr11	46920210	46920210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacacatgaactccccagagCggcagggctggtgggaggct	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46920210C>A	ENST00000378623.1	-	7	937	c.695G>T	c.(694-696)cGc>cTc	p.R232L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	232	LDL-receptor class A 6.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTCCCCAGAGCGGCAGGGCTG	0.592													False	0	False	11:46920210	0	A	46920210	C	A	46920210	3	1	88	1	0	0	0	0	1	0	0	0	9021	768	27	3	5150	3	LRP4	11	46920210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2368	46920210	88086306	11575	19287											
NR1H3	10062	broad.mit.edu	37	chr11	47281365	47281365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggtggagctgtggaagCcaggcgcacaggatgcaagc	17	10	0	0	rs139438525		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47281365C>T	ENST00000467728.1	+	2	1305	c.67C>T	c.(67-69)Cca>Tca	p.P23S	NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000395397.3_5'UTR|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.P23S|NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.P23S|NR1H3_ENST00000407404.1_Missense_Mutation_p.P23S			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	23					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GCTGTGGAAGCCAGGCGCACA	0.652											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:47281365	0	T	47281365	C	T	47281365	3	4	88	1	0	0	0	0	1	0	0	0	10686	739	26	2	73	2	NR1H3	11	47281365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	361155	47281365	87725151	11576	19288											
NR1H3	10062	broad.mit.edu	37	chr11	47282040	47282040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtgtgtggggacaagGcctcgggcttccactacaat	14	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47282040G>A	ENST00000467728.1	+	3	1551	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	NR1H3_ENST00000405576.1_Missense_Mutation_p.A60T|NR1H3_ENST00000395397.3_Missense_Mutation_p.A60T|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.A105T|NR1H3_ENST00000481889.2_Missense_Mutation_p.A60T|NR1H3_ENST00000441012.2_Missense_Mutation_p.A105T|NR1H3_ENST00000407404.1_Missense_Mutation_p.A105T|NR1H3_ENST00000527949.1_Missense_Mutation_p.A14T			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	105					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TGGGGACAAGGCCTCGGGCTT	0.582													False	0	False	11:47282040	0	A	47282040	G	A	47282040	3	1	88	1	0	0	0	0	1	0	0	0	10686	1203	42	2	323	2	NR1H3	11	47282040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	675	47282040	87724476	11577	19289											
MADD	8567	broad.mit.edu	37	chr11	47296266	47296266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcggcgcatgagccttcGggatgatacctcttttgtct	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47296266G>A	ENST00000342922.4	+	3	572	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	MADD_ENST00000395344.3_Missense_Mutation_p.R72Q|MADD_ENST00000349238.3_Missense_Mutation_p.R72Q|MADD_ENST00000402799.1_Missense_Mutation_p.R72Q|MADD_ENST00000395336.3_Missense_Mutation_p.R72Q|MADD_ENST00000406482.1_Missense_Mutation_p.R72Q|MADD_ENST00000311027.5_Missense_Mutation_p.R72Q|MADD_ENST00000407859.3_Missense_Mutation_p.R72Q|MADD_ENST00000402192.2_Missense_Mutation_p.R72Q	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	72	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ATGAGCCTTCGGGATGATACC	0.562													False	0	True	11:47296266	0	A	47296266	G	A	47296266	3	1	88	1	0	0	0	0	1	0	0	0	9215	1116	39	1	221	1	MADD	11	47296266	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14226	47296266	87710250	11578	19290											
MADD	8567	broad.mit.edu	37	chr11	47296342	47296342	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatggcatctgtgttaacttCtaccgctccttccaaaagcg	7	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47296342C>A	ENST00000342922.4	+	3	648	c.291C>A	c.(289-291)ttC>ttA	p.F97L	MADD_ENST00000395344.3_Missense_Mutation_p.F97L|MADD_ENST00000349238.3_Missense_Mutation_p.F97L|MADD_ENST00000402799.1_Missense_Mutation_p.F97L|MADD_ENST00000395336.3_Missense_Mutation_p.F97L|MADD_ENST00000406482.1_Missense_Mutation_p.F97L|MADD_ENST00000311027.5_Missense_Mutation_p.F97L|MADD_ENST00000407859.3_Missense_Mutation_p.F97L|MADD_ENST00000402192.2_Missense_Mutation_p.F97L	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	97	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTGTTAACTTCTACCGCTCCT	0.562													False	0	False	11:47296342	0	A	47296342	C	A	47296342	3	1	88	1	0	0	0	0	1	0	0	0	9215	912	32	3	297	3	MADD	11	47296342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76	47296342	87710174	11579	19291											
MYBPC3	4607	broad.mit.edu	37	chr11	47355139	47355139	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaccagcgtggccttgtcCtccatgttctcaatgcgcac	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47355139C>A	ENST00000545968.1	-	29	3213	c.3159G>T	c.(3157-3159)gaG>gaT	p.E1053D	MYBPC3_ENST00000399249.2_Missense_Mutation_p.E1053D|MYBPC3_ENST00000256993.4_Missense_Mutation_p.E1052D	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1052	Ig-like C2-type 6.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGCCTTGTCCTCCATGTTCT	0.637													False	0	False	11:47355139	0	A	47355139	C	A	47355139	3	1	88	1	0	0	0	0	1	0	0	0	10080	680	24	3	689	3	MYBPC3	11	47355139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58797	47355139	87651377	11580	19292											
MYBPC3	4607	broad.mit.edu	37	chr11	47360107	47360107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggttgacctggtcctcgcCcacagggttcttcactgtga	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47360107C>T	ENST00000545968.1	-	23	2326	c.2272G>A	c.(2272-2274)Ggc>Agc	p.G758S	MYBPC3_ENST00000399249.2_Missense_Mutation_p.G758S|MYBPC3_ENST00000256993.4_Missense_Mutation_p.G757S	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	757	Ig-like C2-type 5.		E -> D (in CMH4).		cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGTCCTCGCCCACAGGGTTC	0.637													False	0	True	11:47360107	0	T	47360107	C	T	47360107	3	4	88	1	0	0	0	0	1	0	0	0	10080	623	22	2	1600	2	MYBPC3	11	47360107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4968	47360107	87646409	11581	19293											
MYBPC3	4607	broad.mit.edu	37	chr11	47364609	47364609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctacacttctcgccaccCaccacgcactggtaggctgc	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47364609C>T	ENST00000545968.1	-	15	1368	c.1314G>A	c.(1312-1314)gtG>gtA	p.V438V	MYBPC3_ENST00000399249.2_Silent_p.V438V|MYBPC3_ENST00000256993.4_Silent_p.V437V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	437	Ig-like C2-type 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCTCGCCACCCACCACGCACT	0.622													False	0	True	11:47364609	0	T	47364609	C	T	47364609	2	4	88	1	0	0	0	0	0	0	0	1	10080	581	21	2		2	MYBPC3	11	47364609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4502	47364609	87641907	11582	19294											
MYBPC3	4607	broad.mit.edu	37	chr11	47371447	47371447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggctggcgccggccaCgcgggctgagaaggtgatgc	19	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47371447C>T	ENST00000545968.1	-	5	586	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	MYBPC3_ENST00000399249.2_Missense_Mutation_p.V178M|MYBPC3_ENST00000256993.4_Missense_Mutation_p.V178M	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	178	Ig-like C2-type 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCGCCGGCCACGCGGGCTGAG	0.672													False	0	False	11:47371447	0	T	47371447	C	T	47371447	3	4	88	1	0	0	0	0	1	0	0	0	10080	536	19	1	3405	1	MYBPC3	11	47371447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6838	47371447	87635069	11583	19295											
SPI1	6688	broad.mit.edu	37	chr11	47381477	47381477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctccagctccatgtggCggtagagctgctgcagctgc	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47381477C>T	ENST00000378538.3	-	3	479	c.257G>A	c.(256-258)cGc>cAc	p.R86H	SPI1_ENST00000227163.4_Missense_Mutation_p.R87H|SPI1_ENST00000533968.1_Missense_Mutation_p.R86H|SPI1_ENST00000533030.1_Intron	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	86					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CTCCATGTGGCGGTAGAGCTG	0.657													False	0	False	11:47381477	0	T	47381477	C	T	47381477	3	4	88	1	0	0	0	0	1	0	0	0	15131	768	27	1	567	1	SPI1	11	47381477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10030	47381477	87625039	11584	19296											
SLC39A13	91252	broad.mit.edu	37	chr11	47434981	47434981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaccccactgctgctgccGccgcgctcaatggaggccac	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47434981G>A	ENST00000524928.1	+	4	578	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	SLC39A13_ENST00000533076.1_Missense_Mutation_p.A190T|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A190T|SLC39A13_ENST00000362021.4_Missense_Mutation_p.A190T|SLC39A13_ENST00000529740.1_3'UTR			Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	190	Poly-Ala.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TGCTGCTGCCGCCGCGCTCAA	0.672													False	0	False	11:47434981	0	A	47434981	G	A	47434981	3	1	88	1	0	0	0	0	1	0	0	0	14696	1087	38	1	582	1	SLC39A13	11	47434981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53504	47434981	87571535	11585	19297											
C1QTNF4	114900	broad.mit.edu	37	chr11	47611561	47611561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacgctctggctctgcatctCgcggcgccgcgacgcgccgt	13	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47611561C>T	ENST00000302514.3	-	2	1318	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	268	C1q 2.					extracellular region				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CTCTGCATCTCGCGGCGCCGC	0.677													False	0	False	11:47611561	0	T	47611561	C	T	47611561	3	4	88	1	0	0	0	0	1	0	0	0	1980	893	31	1	191	1	C1QTNF4	11	47611561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176580	47611561	87394955	11586	19298											
MTCH2	23788	broad.mit.edu	37	chr11	47644304	47644304	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagacgtatatattggggaGtaaggagggcatccaccagc	13	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47644304G>T	ENST00000302503.3	-	12	931	c.774C>A	c.(772-774)taC>taA	p.Y258*	MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Nonsense_Mutation_p.Y110*	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	258					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATATTGGGGAGTAAGGAGGGC	0.333													False	0	False	11:47644304	0	T	47644304	G	T	47644304	4	4	88	1	0	0	0	0	0	1	0	0	9981	1024	36	3	145	3	MTCH2	11	47644304	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32743	47644304	87362212	11587	19299											
MTCH2	23788	broad.mit.edu	37	chr11	47657112	47657112	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catacctcacccttgtcactCtcctggtaatgctatagaaa	5	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47657112C>T	ENST00000302503.3	-	4	448	c.291G>A	c.(289-291)gaG>gaA	p.E97E	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	97					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CCTTGTCACTCTCCTGGTAAT	0.393													False	0	False	11:47657112	0	T	47657112	C	T	47657112	2	4	88	1	0	0	0	0	0	0	0	1	9981	912	32	2		2	MTCH2	11	47657112	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12808	47657112	87349404	11588	19300											
AGBL2	79841	broad.mit.edu	37	chr11	47732006	47732006	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccattcaacaggcattgaGggttattcttccgaacatgc	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47732006G>T	ENST00000525123.1	-	4	440	c.155C>A	c.(154-156)cCt>cAt	p.P52H	AGBL2_ENST00000298861.4_Missense_Mutation_p.P52H|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.P52H|AGBL2_ENST00000528244.1_Missense_Mutation_p.P52H	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	52					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	p.P52H(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CAGGCATTGAGGGTTATTCTT	0.433													False	0	True	11:47732006	0	T	47732006	G	T	47732006	3	4	88	1	0	0	0	0	1	0	0	0	376	1000	35	3	2617	3	AGBL2	11	47732006	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74894	47732006	87274510	11589	19301											
AGBL2	79841	broad.mit.edu	37	chr11	47735874	47735874	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attggaggtgacggtacataAagtcttcataaggatcagga	12	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47735874A>C	ENST00000525123.1	-	3	344	c.59T>G	c.(58-60)tTt>tGt	p.F20C	AGBL2_ENST00000298861.4_Missense_Mutation_p.F20C|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.F20C|AGBL2_ENST00000528244.1_Missense_Mutation_p.F20C	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	20					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ACGGTACATAAAGTCTTCATA	0.363													False	0	True	11:47735874	0	C	47735874	A	C	47735874	3	2	88	1	0	0	0	0	1	0	0	0	376	14	1	4	2717	4	AGBL2	11	47735874	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3868	47735874	87270642	11590	19302											
FNBP4	23360	broad.mit.edu	37	chr11	47772826	47772826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagacttcctgccaatcGcccatctcaattccgactag	5	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47772826G>A	ENST00000263773.5	-	5	666	c.654C>T	c.(652-654)ggC>ggT	p.G218G	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	218	WW 1.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCTGCCAATCGCCCATCTCAA	0.393													False	0	True	11:47772826	0	A	47772826	G	A	47772826	2	1	88	1	0	0	0	0	0	0	0	1	6007	1074	38	1		1	FNBP4	11	47772826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36952	47772826	87233690	11591	19303											
NUP160	23279	broad.mit.edu	37	chr11	47806599	47806599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaagtggataatagtcgccAtgcttcatctgtagcacttg	10	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47806599A>G	ENST00000378460.2	-	33	3911	c.3865T>C	c.(3865-3867)Tgg>Cgg	p.W1289R	NUP160_ENST00000530326.1_Missense_Mutation_p.W1175R	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1289					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AATAGTCGCCATGCTTCATCT	0.378													False	0	False	11:47806599	0	G	47806599	A	G	47806599	3	3	88	1	0	0	0	0	1	0	0	0	10825	217	8	4	461	4	NUP160	11	47806599	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33773	47806599	87199917	11592	19304											
NUP160	23279	broad.mit.edu	37	chr11	47830003	47830003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acttccccatttaatgaggtAataagataagagtaggggag	11	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47830003A>G	ENST00000378460.2	-	18	2366	c.2320T>C	c.(2320-2322)Tac>Cac	p.Y774H	NUP160_ENST00000528071.1_Missense_Mutation_p.Y660H|NUP160_ENST00000530326.1_Missense_Mutation_p.Y660H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	774					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTAATGAGGTAATAAGATAAG	0.403													False	0	True	11:47830003	0	G	47830003	A	G	47830003	3	3	88	1	0	0	0	0	1	0	0	0	10825	362	13	4	2066	4	NUP160	11	47830003	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23404	47830003	87176513	11593	19305											
NUP160	23279	broad.mit.edu	37	chr11	47858498	47858498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaagatgaaggcatcatGctccacacaatgaacagcaa	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47858498G>A	ENST00000378460.2	-	6	929	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	NUP160_ENST00000528071.1_Missense_Mutation_p.H181Y|NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.H181Y	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	295					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAGGCATCATGCTCCACACAA	0.413													False	0	False	11:47858498	0	A	47858498	G	A	47858498	3	1	88	1	0	0	0	0	1	0	0	0	10825	1319	46	2	3551	2	NUP160	11	47858498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28495	47858498	87148018	11594	19306											
PTPRJ	5795	broad.mit.edu	37	chr11	48149438	48149438	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatctaactatacctacaaGatacatgtggcgggggagac	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48149438G>A	ENST00000418331.2	+	7	1552	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	PTPRJ_ENST00000440289.2_Silent_p.K400K	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	400	Fibronectin type-III 4.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATACCTACAAGATACATGTGG	0.517													False	0	False	11:48149438	0	A	48149438	G	A	48149438	2	1	88	1	0	0	0	0	0	0	0	1	12883	933	33	2		2	PTPRJ	11	48149438	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	290940	48149438	86857078	11595	19307											
PTPRJ	5795	broad.mit.edu	37	chr11	48161167	48161167	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtggagcctggaacaAtgcgacccacctggagagct	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48161167A>G	ENST00000418331.2	+	11	2634	c.2282A>G	c.(2281-2283)aAt>aGt	p.N761S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	761	Fibronectin type-III 8.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCCTGGAACAATGCGACCCAC	0.537													False	0	False	11:48161167	0	G	48161167	A	G	48161167	3	3	88	1	0	0	0	0	1	0	0	0	12883	101	4	4	2333	4	PTPRJ	11	48161167	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11729	48161167	86845349	11596	19308											
OR4X2	119764	broad.mit.edu	37	chr11	48266694	48266694	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggtactttctcccaaccaGgaggtgcagagggtttgctt	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48266694G>T	ENST00000302329.3	+	1	87	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCCCAACCAGGAGGTGCAGA	0.448													False	0	False	11:48266694	0	T	48266694	G	T	48266694	3	4	88	1	0	0	0	0	1	0	0	0	11153	991	35	3	41	3	OR4X2	11	48266694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105527	48266694	86739822	11597	19309											
OR4X2	119764	broad.mit.edu	37	chr11	48267073	48267073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtactgtccttgtaggaataGcatgggtgggaggcttcatg	15	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48267073G>T	ENST00000302329.3	+	1	466	c.418G>T	c.(418-420)Gca>Tca	p.A140S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTAGGAATAGCATGGGTGGG	0.502													False	0	False	11:48267073	0	T	48267073	G	T	48267073	3	4	88	1	0	0	0	0	1	0	0	0	11153	971	34	3	420	3	OR4X2	11	48267073	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	379	48267073	86739443	11598	19310											
OR4X2	119764	broad.mit.edu	37	chr11	48267277	48267277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagttttggggtcctcttaGcatcctatatggtcatcttg	9	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48267277G>T	ENST00000302329.3	+	1	670	c.622G>T	c.(622-624)Gca>Tca	p.A208S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGTCCTCTTAGCATCCTATAT	0.517													False	0	False	11:48267277	0	T	48267277	G	T	48267277	3	4	88	1	0	0	0	0	1	0	0	0	11153	971	34	3	624	3	OR4X2	11	48267277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204	48267277	86739239	11599	19311											
OR4X1	390113	broad.mit.edu	37	chr11	48286112	48286112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggaggggcagcacaagGccctctccacctgtgcctct	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48286112G>A	ENST00000320048.1	+	1	700	c.700G>A	c.(700-702)Gcc>Acc	p.A234T		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GCAGCACAAGGCCCTCTCCAC	0.542													False	0	True	11:48286112	0	A	48286112	G	A	48286112	3	1	88	1	0	0	0	0	1	0	0	0	11152	1203	42	2	702	2	OR4X1	11	48286112	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18835	48286112	86720404	11600	19312											
OR4C3	256144	broad.mit.edu	37	chr11	48347003	48347003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atctctgtgccatgcttgtaGgggtggcttggcttgggggc	17	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48347003G>T	ENST00000319856.4	+	1	532	c.511G>T	c.(511-513)Ggg>Tgg	p.G171W		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CATGCTTGTAGGGGTGGCTTG	0.532													False	0	True	11:48347003	0	T	48347003	G	T	48347003	3	4	88	1	0	0	0	0	1	0	0	0	11118	1000	35	3	513	3	OR4C3	11	48347003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60891	48347003	86659513	11601	19313											
FOLH1	2346	broad.mit.edu	37	chr11	49175791	49175791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaacataccaaatgatacaCtgtatgtcttcatttcctgt	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49175791C>A	ENST00000340334.7	-	17	2200	c.1832G>T	c.(1831-1833)aGt>aTt	p.S611I	FOLH1_ENST00000343844.4_Missense_Mutation_p.S318I|FOLH1_ENST00000533034.1_Missense_Mutation_p.S611I|FOLH1_ENST00000256999.2_Missense_Mutation_p.S626I|FOLH1_ENST00000356696.3_Missense_Mutation_p.S626I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	626					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AAATGATACACTGTATGTCTT	0.323													False	0	False	11:49175791	0	A	49175791	C	A	49175791	3	1	88	1	0	0	0	0	1	0	0	0	6019	565	20	3	391	3	FOLH1	11	49175791	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	828788	49175791	85830725	11602	19314											
FOLH1	2346	broad.mit.edu	37	chr11	49204705	49204705	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcttacaaacttactctaGgagcttctgtgcatcatagt	6	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49204705G>T	ENST00000340334.7	-	8	1239	c.871C>A	c.(871-873)Cta>Ata	p.L291I	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.L291I|FOLH1_ENST00000256999.2_Missense_Mutation_p.L306I|FOLH1_ENST00000356696.3_Missense_Mutation_p.L306I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	306	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ACTTACTCTAGGAGCTTCTGT	0.348													False	0	False	11:49204705	0	T	49204705	G	T	49204705	3	4	88	1	0	0	0	0	1	0	0	0	6019	991	35	3	1388	3	FOLH1	11	49204705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28914	49204705	85801811	11603	19315											
OR4C12	283093	broad.mit.edu	37	chr11	50003628	50003628	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaggagaatgcacaggCtgtggctcataatggttgtg	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:50003628C>A	ENST00000335238.4	-	1	443	c.410G>T	c.(409-411)aGc>aTc	p.S137I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AATGCACAGGCTGTGGCTCAT	0.498													False	0	False	11:50003628	0	A	50003628	C	A	50003628	3	1	88	1	0	0	0	0	1	0	0	0	11114	797	28	3	523	3	OR4C12	11	50003628	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	798923	50003628	85002888	11604	19316											
OR4A5	81318	broad.mit.edu	37	chr11	51411541	51411541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctctgaatttctcaaCgtatatattaaaggactcag	5	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411541C>T	ENST00000319760.6	-	1	907	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T285T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AATTTCTCAACGTATATATTA	0.328													False	0	False	11:51411541	0	T	51411541	C	T	51411541	2	4	88	1	0	0	0	0	0	0	0	1	11111	523	19	1		1	OR4A5	11	51411541	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1407913	51411541	83594975	11605	19317											
OR4A5	81318	broad.mit.edu	37	chr11	51411819	51411819	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgacaacaacagtgaggcCtataaagtaggtgtcagtgc	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411819C>A	ENST00000319760.6	-	1	629	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAGTGAGGCCTATAAAGTAG	0.428													False	0	False	11:51411819	0	A	51411819	C	A	51411819	3	1	88	1	0	0	0	0	1	0	0	0	11111	681	24	3	374	3	OR4A5	11	51411819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278	51411819	83594697	11606	19318											
OR4A5	81318	broad.mit.edu	37	chr11	51411931	51411931	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacacaacaatttgaaaCgcagaatgtacaaaacctcc	5	11	0	2	rs140587389	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411931C>T	ENST00000319760.6	-	1	517	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A155A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAATTTGAAACGCAGAATGTA	0.453													False	0	True	11:51411931	0	T	51411931	C	T	51411931	2	4	88	1	0	0	0	0	0	0	0	1	11111	523	19	1		1	OR4A5	11	51411931	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	51411931	83594585	11607	19319											
OR4C46	119749	broad.mit.edu	37	chr11	51515910	51515910	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catctgcttgttaaactttgCcctcctgctggtctcctatg	7	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51515910C>A	ENST00000328188.1	+	1	629	c.629C>A	c.(628-630)gCc>gAc	p.A210D		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTAAACTTTGCCCTCCTGCTG	0.517													False	0	True	11:51515910	0	A	51515910	C	A	51515910	3	1	88	1	0	0	0	0	1	0	0	0	11119	739	26	3	631	3	OR4C46	11	51515910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103979	51515910	83490606	11608	19320											
OR4C46	119749	broad.mit.edu	37	chr11	51516165	51516165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgcccagatgaaaaatgCcatcaggaaattgtgtagta	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51516165C>T	ENST00000328188.1	+	1	884	c.884C>T	c.(883-885)gCc>gTc	p.A295V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGAAAAATGCCATCAGGAAA	0.343													False	0	False	11:51516165	0	T	51516165	C	T	51516165	3	4	88	1	0	0	0	0	1	0	0	0	11119	739	26	2	886	2	OR4C46	11	51516165	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255	51516165	83490351	11609	19321											
OR4A15	81328	broad.mit.edu	37	chr11	55135508	55135508	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agggctcacacagaaccctgAggggcaaaaggttttatttg	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55135508A>C	ENST00000314706.3	+	1	149	c.149A>C	c.(148-150)gAg>gCg	p.E50A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAGAACCCTGAGGGGCAAAAG	0.443													False	0	True	11:55135508	0	C	55135508	A	C	55135508	3	2	88	1	0	0	0	0	1	0	0	0	11108	304	11	4	151	4	OR4A15	11	55135508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3619343	55135508	79871008	11610	19322											
OR4A15	81328	broad.mit.edu	37	chr11	55135947	55135947	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttatttatcagctccctttCtgtggacccaatgtcattga	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55135947C>A	ENST00000314706.3	+	1	588	c.588C>A	c.(586-588)ttC>ttA	p.F196L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGCTCCCTTTCTGTGGACCCA	0.428													False	0	True	11:55135947	0	A	55135947	C	A	55135947	3	1	88	1	0	0	0	0	1	0	0	0	11108	912	32	3	590	3	OR4A15	11	55135947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439	55135947	79870569	11611	19323											
OR4A15	81328	broad.mit.edu	37	chr11	55136198	55136198	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcattttattctttgTcccctgtatcttcttgtatg	7	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55136198T>C	ENST00000314706.3	+	1	839	c.839T>C	c.(838-840)gTc>gCc	p.V280A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTATTCTTTGTCCCCTGTATC	0.413													False	0	True	11:55136198	0	C	55136198	T	C	55136198	3	2	88	1	0	0	0	0	1	0	0	0	11108	1667	58	4	841	4	OR4A15	11	55136198	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	251	55136198	79870318	11612	19324											
OR4C11	219429	broad.mit.edu	37	chr11	55371093	55371093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgtgtatatatgaataTacatgggccaaagaataaga	12	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371093T>C	ENST00000302231.4	-	1	781	c.757A>G	c.(757-759)Ata>Gta	p.I253V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TATATGAATATACATGGGCCA	0.443													False	0	False	11:55371093	0	C	55371093	T	C	55371093	3	2	88	1	0	0	0	0	1	0	0	0	11113	1406	49	4	177	4	OR4C11	11	55371093	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234895	55371093	79635423	11613	19325											
OR4C11	219429	broad.mit.edu	37	chr11	55371242	55371242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaactacttgagcaaattGccccactgttagacaccaac	6	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371242G>A	ENST00000302231.4	-	1	632	c.608C>T	c.(607-609)gCa>gTa	p.A203V		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TGAGCAAATTGCCCCACTGTT	0.398													False	0	True	11:55371242	0	A	55371242	G	A	55371242	3	1	88	1	0	0	0	0	1	0	0	0	11113	1319	46	2	326	2	OR4C11	11	55371242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149	55371242	79635274	11614	19326											
OR4C11	219429	broad.mit.edu	37	chr11	55371419	55371419	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaccctatccaggcaagaAcaatcaggatgatgcagacc	9	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371419A>C	ENST00000302231.4	-	1	455	c.431T>G	c.(430-432)gTt>gGt	p.V144G		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CCAGGCAAGAACAATCAGGAT	0.453													False	0	False	11:55371419	0	C	55371419	A	C	55371419	3	2	88	1	0	0	0	0	1	0	0	0	11113	43	2	4	503	4	OR4C11	11	55371419	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	177	55371419	79635097	11615	19327											
OR4P4	81300	broad.mit.edu	37	chr11	55406127	55406127	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tataataactgtatgatacaActctttaccacccatttttt	2	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55406127A>C	ENST00000314612.2	+	1	294	c.294A>C	c.(292-294)caA>caC	p.Q98H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GTATGATACAACTCTTTACCA	0.448													False	0	False	11:55406127	0	C	55406127	A	C	55406127	3	2	88	1	0	0	0	0	1	0	0	0	11148	40	2	4	296	4	OR4P4	11	55406127	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34708	55406127	79600389	11616	19328											
OR4S2	219431	broad.mit.edu	37	chr11	55418546	55418546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaacctgtttaagtcacCcatgtatttctttctcagct	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55418546C>T	ENST00000312422.2	+	1	167	c.167C>T	c.(166-168)cCc>cTc	p.P56L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTTAAGTCACCCATGTATTTC	0.393													False	0	True	11:55418546	0	T	55418546	C	T	55418546	3	4	88	1	0	0	0	0	1	0	0	0	11151	623	22	2	169	2	OR4S2	11	55418546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12419	55418546	79587970	11617	19329											
OR5D13	390142	broad.mit.edu	37	chr11	55541337	55541337	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactattatgtctcagaagCtctgtgctcttctggtggct	9	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55541337C>A	ENST00000361760.1	+	1	424	c.424C>A	c.(424-426)Ctc>Atc	p.L142I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GTCTCAGAAGCTCTGTGCTCT	0.428													False	0	False	11:55541337	0	A	55541337	C	A	55541337	3	1	88	1	0	0	0	0	1	0	0	0	11222	797	28	3	426	3	OR5D13	11	55541337	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122791	55541337	79465179	11618	19330											
OR5D18	219438	broad.mit.edu	37	chr11	55587163	55587163	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaccctcttgggcttctcaGattacccagaactgcaagtc	7	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55587163G>A	ENST00000333976.4	+	1	78	c.58G>A	c.(58-60)Gat>Aat	p.D20N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGGCTTCTCAGATTACCCAGA	0.428													False	0	False	11:55587163	0	A	55587163	G	A	55587163	3	1	88	1	0	0	0	0	1	0	0	0	11225	942	33	2	60	2	OR5D18	11	55587163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45826	55587163	79419353	11619	19331											
OR5D18	219438	broad.mit.edu	37	chr11	55587930	55587930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcacacagtcaaagtggcCtctgtgttttacaccgtggt	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55587930C>T	ENST00000333976.4	+	1	845	c.825C>T	c.(823-825)gcC>gcT	p.A275A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCAAAGTGGCCTCTGTGTTTT	0.498													False	0	False	11:55587930	0	T	55587930	C	T	55587930	2	4	88	1	0	0	0	0	0	0	0	1	11225	668	24	2		2	OR5D18	11	55587930	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	767	55587930	79418586	11620	19332											
OR5L2	26338	broad.mit.edu	37	chr11	55595572	55595572	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccccctgatctacagcctgaGaaataaggatgtgaacaaag	9	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55595572G>A	ENST00000378397.1	+	1	878	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TACAGCCTGAGAAATAAGGAT	0.473										HNSCC(27;0.073)			False	0	True	11:55595572	0	A	55595572	G	A	55595572	3	1	88	1	0	0	0	0	1	0	0	0	11239	942	33	2	880	2	OR5L2	11	55595572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7642	55595572	79410944	11621	19333											
OR5D16	390144	broad.mit.edu	37	chr11	55606350	55606350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtctacggcttcagtgtGgtagggaatcttgggatgat	15	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55606350G>A	ENST00000378396.1	+	1	123	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCTTCAGTGTGGTAGGGAATC	0.443													False	0	False	11:55606350	0	A	55606350	G	A	55606350	2	1	88	1	0	0	0	0	0	0	0	1	11224	1335	47	2		2	OR5D16	11	55606350	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10778	55606350	79400166	11622	19334											
OR5D16	390144	broad.mit.edu	37	chr11	55606577	55606577	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgactgaattaattctatTtgcggtgatggcctatgacc	10	7	1	4	rs146679837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55606577T>G	ENST00000378396.1	+	1	350	c.350T>G	c.(349-351)tTt>tGt	p.F117C		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTAATTCTATTTGCGGTGATG	0.433													False	0	True	11:55606577	0	G	55606577	T	G	55606577	3	3	88	1	0	0	0	0	1	0	0	0	11224	1841	64	4	352	4	OR5D16	11	55606577	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	227	55606577	79399939	11623	19335											
OR5W2	390148	broad.mit.edu	37	chr11	55681230	55681230	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaaccacaagggtgtaaaAcaatgaggtcattttatctt	10	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55681230A>C	ENST00000344514.1	-	1	828	c.829T>G	c.(829-831)Ttt>Gtt	p.F277V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGGTGTAAAACAATGAGGTC	0.393													False	0	True	11:55681230	0	C	55681230	A	C	55681230	3	2	88	1	0	0	0	0	1	0	0	0	11253	43	2	4	105	4	OR5W2	11	55681230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	74653	55681230	79325286	11624	19336											
OR5F1	338674	broad.mit.edu	37	chr11	55761759	55761759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcataggccattaacccaaAgaggatgcattcggttgtcg	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55761759A>G	ENST00000278409.1	-	1	342	c.343T>C	c.(343-345)Ttt>Ctt	p.F115L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ATTAACCCAAAGAGGATGCAT	0.493													False	0	True	11:55761759	0	G	55761759	A	G	55761759	3	3	88	1	0	0	0	0	1	0	0	0	11226	72	3	4	604	4	OR5F1	11	55761759	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80529	55761759	79244757	11625	19337											
OR5AS1	219447	broad.mit.edu	37	chr11	55798285	55798285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccatctgcaacccactgCtctatactacactgatgtct	5	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55798285C>T	ENST00000313555.1	+	1	391	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAACCCACTGCTCTATACTAC	0.458													False	0	False	11:55798285	0	T	55798285	C	T	55798285	3	4	88	1	0	0	0	0	1	0	0	0	11214	797	28	2	393	2	OR5AS1	11	55798285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36526	55798285	79208231	11626	19338											
OR5AS1	219447	broad.mit.edu	37	chr11	55798820	55798820	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaagctattagaaagaattgGatattcaaatgaatggtatt	8	2	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55798820G>T	ENST00000313555.1	+	1	926	c.926G>T	c.(925-927)gGa>gTa	p.G309V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GAAAGAATTGGATATTCAAAT	0.289													False	0	False	11:55798820	0	T	55798820	G	T	55798820	3	4	88	1	0	0	0	0	1	0	0	0	11214	1174	41	3	928	3	OR5AS1	11	55798820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	535	55798820	79207696	11627	19339											
OR8H2	390151	broad.mit.edu	37	chr11	55873329	55873329	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtcttattccttgggaagaGatcaagtggcttctgttttt	10	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55873329G>T	ENST00000313503.1	+	1	811	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTTGGGAAGAGATCAAGTGGC	0.363										HNSCC(53;0.14)			False	0	False	11:55873329	0	T	55873329	G	T	55873329	3	4	88	1	0	0	0	0	1	0	0	0	11306	942	33	3	813	3	OR8H2	11	55873329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74509	55873329	79133187	11628	19340											
OR8H3	390152	broad.mit.edu	37	chr11	55890184	55890184	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgggtactgctgaatgTtatcttctctcctcaatggc	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55890184T>C	ENST00000313472.3	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTGCTGAATGTTATCTTCTCT	0.458													False	0	False	11:55890184	0	C	55890184	T	C	55890184	2	2	88	1	0	0	0	0	0	0	0	1	11307	1731	60	4		4	OR8H3	11	55890184	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16855	55890184	79116332	11629	19341											
OR8H3	390152	broad.mit.edu	37	chr11	55890321	55890321	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctttatggactcctttgTcaatgtggtttccatgagca	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55890321T>C	ENST00000313472.3	+	1	473	c.473T>C	c.(472-474)gTc>gCc	p.V158A		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GACTCCTTTGTCAATGTGGTT	0.448													False	0	False	11:55890321	0	C	55890321	T	C	55890321	3	2	88	1	0	0	0	0	1	0	0	0	11307	1667	58	4	475	4	OR8H3	11	55890321	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	137	55890321	79116195	11630	19342											
OR8J3	81168	broad.mit.edu	37	chr11	55905003	55905003	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agattgatgatagctagatgTctcaggaaaaagtacatggg	12	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55905003T>A	ENST00000301529.1	-	1	191	c.192A>T	c.(190-192)agA>agT	p.R64S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TAGCTAGATGTCTCAGGAAAA	0.433													False	0	False	11:55905003	0	A	55905003	T	A	55905003	3	1	88	1	0	0	0	0	1	0	0	0	11310	1664	58	5	757	5	OR8J3	11	55905003	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14682	55905003	79101513	11631	19343											
OR8K5	219453	broad.mit.edu	37	chr11	55927041	55927041	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgaagagtagagacccataGaacacaaccaccactgtcaa	7	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55927041G>T	ENST00000313447.1	-	1	752	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAGACCCATAGAACACAACCA	0.413													False	0	False	11:55927041	0	T	55927041	G	T	55927041	3	4	88	1	0	0	0	0	1	0	0	0	11313	933	33	3	173	3	OR8K5	11	55927041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22038	55927041	79079475	11632	19344											
OR8K5	219453	broad.mit.edu	37	chr11	55927351	55927351	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgtgctgtagagatatTgaatgcccaccagtacatga	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55927351T>G	ENST00000313447.1	-	1	442	c.443A>C	c.(442-444)cAa>cCa	p.Q148P		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTAGAGATATTGAATGCCCAC	0.413													False	0	False	11:55927351	0	G	55927351	T	G	55927351	3	3	88	1	0	0	0	0	1	0	0	0	11313	1812	63	4	483	4	OR8K5	11	55927351	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	310	55927351	79079165	11633	19345											
OR5T1	390155	broad.mit.edu	37	chr11	56043515	56043515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcaatggcttatgatcGctatgtagccatctacaacc	9	11	1	1	rs140678740		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56043515G>A	ENST00000313033.2	+	1	487	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GCTTATGATCGCTATGTAGCC	0.413													False	0	False	11:56043515	0	A	56043515	G	A	56043515	3	1	88	1	0	0	0	0	1	0	0	0	11249	1087	38	1	403	1	OR5T1	11	56043515	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116164	56043515	78963001	11634	19346											
OR5T1	390155	broad.mit.edu	37	chr11	56044027	56044027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccatcatctacagtttgCggaacaaagatgtaaaggag	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56044027C>T	ENST00000313033.2	+	1	999	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R305W(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTACAGTTTGCGGAACAAAGA	0.338													False	0	False	11:56044027	0	T	56044027	C	T	56044027	3	4	88	1	0	0	0	0	1	0	0	0	11249	759	27	1	915	1	OR5T1	11	56044027	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	512	56044027	78962489	11635	19347											
OR8J1	219477	broad.mit.edu	37	chr11	56127922	56127922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttcctgcaacatctggCtctcattaatcttggtaact	5	11	3	0	rs147013138		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56127922C>T	ENST00000303039.3	+	1	232	c.200C>T	c.(199-201)gCt>gTt	p.A67V		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CAACATCTGGCTCTCATTAAT	0.443													False	0	False	11:56127922	0	T	56127922	C	T	56127922	3	4	88	1	0	0	0	0	1	0	0	0	11309	797	28	2	202	2	OR8J1	11	56127922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83895	56127922	78878594	11636	19348											
OR5R1	219479	broad.mit.edu	37	chr11	56185131	56185131	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atatcagaatttccttcatgTgtgtgtctgagcaggacaga	10	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56185131T>G	ENST00000312253.1	-	1	577	c.578A>C	c.(577-579)cAc>cCc	p.H193P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTCCTTCATGTGTGTGTCTGA	0.423													False	0	True	11:56185131	0	G	56185131	T	G	56185131	3	3	88	1	0	0	0	0	1	0	0	0	11248	1696	59	4	398	4	OR5R1	11	56185131	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57209	56185131	78821385	11637	19349											
OR5M9	390162	broad.mit.edu	37	chr11	56230077	56230077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagccaccattttgccctgCtctacggattcctcagtggg	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56230077C>T	ENST00000279791.1	-	1	800	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTTTGCCCTGCTCTACGGATT	0.463													False	0	False	11:56230077	0	T	56230077	C	T	56230077	2	4	88	1	0	0	0	0	0	0	0	1	11245	796	28	2		2	OR5M9	11	56230077	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44946	56230077	78776439	11638	19350											
OR5M3	219482	broad.mit.edu	37	chr11	56237249	56237249	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atataatgacagctgtcagaTgggacccacatgtggaaaag	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56237249T>C	ENST00000312240.2	-	1	765	c.725A>G	c.(724-726)cAt>cGt	p.H242R		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGCTGTCAGATGGGACCCACA	0.473													False	0	True	11:56237249	0	C	56237249	T	C	56237249	3	2	88	1	0	0	0	0	1	0	0	0	11243	1464	51	4	200	4	OR5M3	11	56237249	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7172	56237249	78769267	11639	19351											
OR5M3	219482	broad.mit.edu	37	chr11	56237597	56237597	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgccataaagcagaggaTtcccaattgccatgtatcta	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56237597T>G	ENST00000312240.2	-	1	417	c.377A>C	c.(376-378)aAt>aCt	p.N126T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AAGCAGAGGATTCCCAATTGC	0.398													False	0	False	11:56237597	0	G	56237597	T	G	56237597	3	3	88	1	0	0	0	0	1	0	0	0	11243	1493	52	4	548	4	OR5M3	11	56237597	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	348	56237597	78768919	11640	19352											
OR5M11	219487	broad.mit.edu	37	chr11	56310088	56310088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaatgaaggcataggAcaccaagacgatggtgaggg	15	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310088A>G	ENST00000528616.2	-	1	669	c.646T>C	c.(646-648)Tcc>Ccc	p.S216P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AAGGCATAGGACACCAAGACG	0.493													False	0	False	11:56310088	0	G	56310088	A	G	56310088	3	3	88	1	0	0	0	0	1	0	0	0	11242	275	10	4	274	4	OR5M11	11	56310088	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	72491	56310088	78696428	11641	19353											
OR5M11	219487	broad.mit.edu	37	chr11	56310189	56310189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagaaagcttaatgagcGgcgggtcagcacagtagaag	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310189G>A	ENST00000528616.2	-	1	568	c.545C>T	c.(544-546)cCg>cTg	p.P182L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTTAATGAGCGGCGGGTCAGC	0.502													False	0	False	11:56310189	0	A	56310189	G	A	56310189	3	1	88	1	0	0	0	0	1	0	0	0	11242	1116	39	1	375	1	OR5M11	11	56310189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101	56310189	78696327	11642	19354											
OR5M11	219487	broad.mit.edu	37	chr11	56310287	56310287	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agtccatctgagaagccataGacatagggaaatgtggccaa	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310287G>A	ENST00000528616.2	-	1	470	c.447C>T	c.(445-447)gtC>gtT	p.V149V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGAAGCCATAGACATAGGGAA	0.527													False	0	False	11:56310287	0	A	56310287	G	A	56310287	2	1	88	1	0	0	0	0	0	0	0	1	11242	929	33	2		2	OR5M11	11	56310287	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	56310287	78696229	11643	19355											
OR5M10	390167	broad.mit.edu	37	chr11	56344805	56344805	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggacatcctggaactgtaAtgtaaagggctgcaaatggc	12	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56344805A>G	ENST00000526812.2	-	1	458	c.393T>C	c.(391-393)caT>caC	p.H131H		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGGAACTGTAATGTAAAGGGC	0.458													False	0	True	11:56344805	0	G	56344805	A	G	56344805	2	3	88	1	0	0	0	0	0	0	0	1	11241	98	4	4		4	OR5M10	11	56344805	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34518	56344805	78661711	11644	19356											
OR9G1	390174	broad.mit.edu	37	chr11	56467921	56467921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggcttcaccacagacCcaggaatgcagctgggcctc	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56467921C>T	ENST00000312153.1	+	1	58	c.58C>T	c.(58-60)Cca>Tca	p.P20S		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CACCACAGACCCAGGAATGCA	0.502													False	0	True	11:56467921	0	T	56467921	C	T	56467921	3	4	88	1	0	0	0	0	1	0	0	0	11318	623	22	2	60	2	OR9G1	11	56467921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123116	56467921	78538595	11645	19357											
OR5AK2	390181	broad.mit.edu	37	chr11	56756842	56756842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctggttcatacatcatgGgctcaataaatgcctctgta	8	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56756842G>A	ENST00000326855.2	+	1	496	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ATACATCATGGGCTCAATAAA	0.438													False	0	True	11:56756842	0	A	56756842	G	A	56756842	3	1	88	1	0	0	0	0	1	0	0	0	11210	1232	43	2	456	2	OR5AK2	11	56756842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288921	56756842	78249674	11646	19358											
OR5AK2	390181	broad.mit.edu	37	chr11	56756950	56756950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccccctattcttgctcttTcatgctccaatgttgacatc	4	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56756950T>G	ENST00000326855.2	+	1	604	c.562T>G	c.(562-564)Tca>Gca	p.S188A		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCTTGCTCTTTCATGCTCCAA	0.398													False	0	True	11:56756950	0	G	56756950	T	G	56756950	3	3	88	1	0	0	0	0	1	0	0	0	11210	1783	62	4	564	4	OR5AK2	11	56756950	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108	56756950	78249566	11647	19359											
LRRC55	219527	broad.mit.edu	37	chr11	56949909	56949909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttccaggaggcccatgGgctagtccacatcgacctga	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56949909G>A	ENST00000497933.1	+	1	689	c.542G>A	c.(541-543)gGg>gAg	p.G181E		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	151						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GAGGCCCATGGGCTAGTCCAC	0.612													False	0	True	11:56949909	0	A	56949909	G	A	56949909	3	1	88	1	0	0	0	0	1	0	0	0	9073	1232	43	2	544	2	LRRC55	11	56949909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192959	56949909	78056607	11648	19360											
LRRC55	219527	broad.mit.edu	37	chr11	56950046	56950046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctggaggctcttgagGgcctaccggggctggtgacc	16	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56950046G>A	ENST00000497933.1	+	1	826	c.679G>A	c.(679-681)Ggc>Agc	p.G227S		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	197	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCTCTTGAGGGCCTACCGGG	0.652													False	0	True	11:56950046	0	A	56950046	G	A	56950046	3	1	88	1	0	0	0	0	1	0	0	0	9073	1232	43	2	681	2	LRRC55	11	56950046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137	56950046	78056470	11649	19361											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57068363	57068363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttaggtcacctaccctgaGgatttctctggcttgggagg	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57068363G>A	ENST00000532437.1	-	9	5435	c.5124C>T	c.(5122-5124)tcC>tcT	p.S1708S	TNKS1BP1_ENST00000358252.3_Silent_p.S1708S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1708	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCTACCCTGAGGATTTCTCTG	0.552													False	0	False	11:57068363	0	A	57068363	G	A	57068363	2	1	88	1	0	0	0	0	0	0	0	1	16402	987	35	2		2	TNKS1BP1	11	57068363	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118317	57068363	77938153	11650	19362											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076499	57076499	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctcttcacattaacatcaGaagtccagtccttctcccca	4	15	4	1	rs139978039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57076499G>A	ENST00000532437.1	-	5	3997	c.3686C>T	c.(3685-3687)tCt>tTt	p.S1229F	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1229F			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1229	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATTAACATCAGAAGTCCAGTC	0.582													False	0	False	11:57076499	0	A	57076499	G	A	57076499	3	1	88	1	0	0	0	0	1	0	0	0	16402	942	33	2	1527	2	TNKS1BP1	11	57076499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8136	57076499	77930017	11651	19363											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076904	57076904	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctctcgctgggggccaAcactgaggctaaactcaccg	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57076904A>G	ENST00000532437.1	-	5	3592	c.3281T>C	c.(3280-3282)gTt>gCt	p.V1094A	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.V1094A			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1094	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGGGGGCCAACACTGAGGCT	0.612													False	0	False	11:57076904	0	G	57076904	A	G	57076904	3	3	88	1	0	0	0	0	1	0	0	0	16402	43	2	4	1932	4	TNKS1BP1	11	57076904	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	405	57076904	77929612	11652	19364											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077332	57077332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaagcgctcttcccaaaCtcctgttcctgtggctccgc	7	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57077332C>T	ENST00000532437.1	-	5	3164	c.2853G>A	c.(2851-2853)gaG>gaA	p.E951E	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Silent_p.E951E			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	951	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCTTCCCAAACTCCTGTTCCT	0.592													False	0	True	11:57077332	0	T	57077332	C	T	57077332	2	4	88	1	0	0	0	0	0	0	0	1	16402	564	20	2		2	TNKS1BP1	11	57077332	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428	57077332	77929184	11653	19365											
SSRP1	6749	broad.mit.edu	37	chr11	57098390	57098390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaaaatcaaacagtttcCcgtactcctccctgtgaggg	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57098390C>T	ENST00000278412.2	-	10	1501	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	412					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AAACAGTTTCCCGTACTCCTC	0.493													False	0	True	11:57098390	0	T	57098390	C	T	57098390	3	4	88	1	0	0	0	0	1	0	0	0	15276	623	22	2	926	2	SSRP1	11	57098390	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21058	57098390	77908126	11654	19366											
SSRP1	6749	broad.mit.edu	37	chr11	57102123	57102123	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacctcagtcgaccatcattCtgtaagaaaagcaggcccag	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57102123C>T	ENST00000278412.2	-	3	321		c.e3-1			NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1						DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GACCATCATTCTGTAAGAAAA	0.502													False	0	False	11:57102123	0	T	57102123	C	T	57102123	5	4	88	1	0	0	0	0	0	0	1	0	15276	927	32	2	2135	2	SSRP1	11	57102123	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3733	57102123	77904393	11655	19367											
PRG2	5553	broad.mit.edu	37	chr11	57156117	57156117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgctgacagaacactggattCgataattaatattgaagttg	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57156117C>T	ENST00000311862.5	-	4	504	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	PRG2_ENST00000533605.1_Missense_Mutation_p.R133Q|PRG2_ENST00000525955.1_Missense_Mutation_p.R144Q	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACTGGATTCGATAATTAAT	0.488													False	0	False	11:57156117	0	T	57156117	C	T	57156117	3	4	88	1	0	0	0	0	1	0	0	0	12555	884	31	1	249	1	PRG2	11	57156117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53994	57156117	77850399	11656	19368											
SLC43A3	29015	broad.mit.edu	37	chr11	57193571	57193571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggccagccaaagaggacGccagcaaagcccaggcattc	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57193571G>A	ENST00000395123.2	-	3	379	c.75C>T	c.(73-75)ggC>ggT	p.G25G	SLC43A3_ENST00000529554.1_Silent_p.G25G|SLC43A3_ENST00000352187.1_Silent_p.G25G|SLC43A3_ENST00000395124.1_Silent_p.G25G|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Silent_p.G25G	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	25					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CAAAGAGGACGCCAGCAAAGC	0.557													False	0	False	11:57193571	0	A	57193571	G	A	57193571	2	1	88	1	0	0	0	0	0	0	0	1	14714	1074	38	1		1	SLC43A3	11	57193571	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37454	57193571	77812945	11657	19369											
SERPING1	710	broad.mit.edu	37	chr11	57373534	57373534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctcggaccctgtacagcaGcagccccagagtcctaagca	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57373534G>T	ENST00000403558.1	+	4	1205	c.839G>T	c.(838-840)aGc>aTc	p.S280I	SERPING1_ENST00000340687.6_Missense_Mutation_p.S246I|SERPING1_ENST00000278407.4_Missense_Mutation_p.S246I|SERPING1_ENST00000378323.4_Missense_Mutation_p.S251I|SERPING1_ENST00000378324.2_Missense_Mutation_p.S194I	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	246					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTGTACAGCAGCAGCCCCAGA	0.547													False	0	True	11:57373534	0	T	57373534	G	T	57373534	3	4	88	1	0	0	0	0	1	0	0	0	14197	971	34	3	751	3	SERPING1	11	57373534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179963	57373534	77632982	11658	19370											
ZDHHC5	25921	broad.mit.edu	37	chr11	57457546	57457546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaataactgtattggtcGccggaactaccgttattttt	10	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57457546G>A	ENST00000287169.3	+	5	1790	c.428G>A	c.(427-429)cGc>cAc	p.R143H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R90H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	143						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TGTATTGGTCGCCGGAACTAC	0.458													False	0	False	11:57457546	0	A	57457546	G	A	57457546	3	1	88	1	0	0	0	0	1	0	0	0	17701	1087	38	1	442	1	ZDHHC5	11	57457546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84012	57457546	77548970	11659	19371											
TMX2	51075	broad.mit.edu	37	chr11	57506148	57506148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggcaggaggaactagaaCgggacaagagggtcacttgg	16	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57506148C>T	ENST00000278422.4	+	5	466	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Missense_Mutation_p.R114W	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	152	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAACTAGAACGGGACAAGAG	0.473													False	0	True	11:57506148	0	T	57506148	C	T	57506148	3	4	88	1	0	0	0	0	1	0	0	0	16349	527	19	1	472	1	TMX2	11	57506148	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48602	57506148	77500368	11660	19372											
CTNND1	1500	broad.mit.edu	37	chr11	57564342	57564342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatcgctttcatccagaGccttatgggctagaggatga	11	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57564342G>A	ENST00000524630.1	+	6	1347	c.834G>A	c.(832-834)gaG>gaA	p.E278E	CTNND1_ENST00000399050.4_Silent_p.E278E|CTNND1_ENST00000426142.2_Silent_p.E177E|CTNND1_ENST00000528232.1_Silent_p.E177E|CTNND1_ENST00000530748.1_Silent_p.E224E|CTNND1_ENST00000529873.1_Silent_p.E224E|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532245.1_Silent_p.E177E|CTNND1_ENST00000415361.2_Silent_p.E177E|CTNND1_ENST00000532463.1_Silent_p.E177E|CTNND1_ENST00000529986.1_Silent_p.E177E|CTNND1_ENST00000529919.1_Silent_p.E278E|CTNND1_ENST00000361391.6_Silent_p.E278E|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000532787.1_Silent_p.E177E|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361332.4_Silent_p.E278E|CTNND1_ENST00000529526.1_Silent_p.E224E|CTNND1_ENST00000526938.1_Silent_p.E278E|CTNND1_ENST00000399039.4_Silent_p.E278E|CTNND1_ENST00000361796.4_Silent_p.E278E|CTNND1_ENST00000534579.1_Silent_p.E224E|CTNND1_ENST00000532844.1_Silent_p.E224E|CTNND1_ENST00000530094.1_Silent_p.E177E|CTNND1_ENST00000528621.1_Silent_p.E224E|CTNND1_ENST00000360682.6_Silent_p.E278E|CTNND1_ENST00000526357.1_Silent_p.E224E|CTNND1_ENST00000358694.6_Silent_p.E278E|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000428599.2_Silent_p.E278E|CTNND1_ENST00000532649.1_Silent_p.E224E			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	278					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TTCATCCAGAGCCTTATGGGC	0.557													False	0	False	11:57564342	0	A	57564342	G	A	57564342	2	1	88	1	0	0	0	0	0	0	0	1	4044	962	34	2		2	CTNND1	11	57564342	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58194	57564342	77442174	11661	19373											
OR6Q1	219952	broad.mit.edu	37	chr11	57799000	57799000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccttgctagccttgtcGtgctcagatgtcacttggaa	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57799000G>A	ENST00000302622.3	+	1	599	c.576G>A	c.(574-576)tcG>tcA	p.S192S	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TAGCCTTGTCGTGCTCAGATG	0.498													False	0	False	11:57799000	0	A	57799000	G	A	57799000	2	1	88	1	0	0	0	0	0	0	0	1	11276	1132	40	1		1	OR6Q1	11	57799000	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234658	57799000	77207516	11662	19374											
OR1S1	219959	broad.mit.edu	37	chr11	57982253	57982253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttcttcagatcggcagaAatatgcatcaaggaaaccaa	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57982253A>G	ENST00000309433.6	+	1	37	c.37A>G	c.(37-39)Aat>Gat	p.N13D		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GATCGGCAGAAATATGCATCA	0.403													False	0	True	11:57982253	0	G	57982253	A	G	57982253	3	3	88	1	0	0	0	0	1	0	0	0	11040	14	1	4	39	4	OR1S1	11	57982253	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	183253	57982253	77024263	11663	19375											
OR1S1	219959	broad.mit.edu	37	chr11	57982274	57982274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgcatcaaggaaaccaaAccaccatcactgaattcatt	4	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57982274A>G	ENST00000309433.6	+	1	58	c.58A>G	c.(58-60)Acc>Gcc	p.T20A		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AGGAAACCAAACCACCATCAC	0.413													False	0	True	11:57982274	0	G	57982274	A	G	57982274	3	3	88	1	0	0	0	0	1	0	0	0	11040	43	2	4	60	4	OR1S1	11	57982274	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21	57982274	77024242	11664	19376											
OR10Q1	219960	broad.mit.edu	37	chr11	57995968	57995968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtggcagatagccacaTagcggtcataggccatgatc	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57995968T>C	ENST00000316770.2	-	1	422	c.380A>G	c.(379-381)tAt>tGt	p.Y127C		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y127F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GATAGCCACATAGCGGTCATA	0.607													False	0	False	11:57995968	0	C	57995968	T	C	57995968	3	2	88	1	0	0	0	0	1	0	0	0	10984	1406	49	4	583	4	OR10Q1	11	57995968	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13694	57995968	77010548	11665	19377											
OR5B3	441608	broad.mit.edu	37	chr11	58170060	58170060	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgaccattgtatagaAcacaggtgccattttgtctg	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58170060A>G	ENST00000309403.2	-	1	822	c.823T>C	c.(823-825)Ttc>Ctc	p.F275L		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATTGTATAGAACACAGGTGCC	0.433													False	0	False	11:58170060	0	G	58170060	A	G	58170060	3	3	88	1	0	0	0	0	1	0	0	0	11220	43	2	4	123	4	OR5B3	11	58170060	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	174092	58170060	76836456	11666	19378											
OR5B3	441608	broad.mit.edu	37	chr11	58170524	58170524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcacactgctgcatagCggtcataggccattgaggcc	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58170524C>T	ENST00000309403.2	-	1	358	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGCATAGCGGTCATAGGC	0.468													False	0	False	11:58170524	0	T	58170524	C	T	58170524	3	4	88	1	0	0	0	0	1	0	0	0	11220	768	27	1	587	1	OR5B3	11	58170524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	464	58170524	76835992	11667	19379											
OR5B12	390191	broad.mit.edu	37	chr11	58206921	58206921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagcacaagtagaaaagGccttctggcgtccttcaggt	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58206921G>A	ENST00000302572.2	-	1	725	c.704C>T	c.(703-705)gCc>gTc	p.A235V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTAGAAAAGGCCTTCTGGCG	0.423													False	0	False	11:58206921	0	A	58206921	G	A	58206921	3	1	88	1	0	0	0	0	1	0	0	0	11216	1203	42	2	244	2	OR5B12	11	58206921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36397	58206921	76799595	11668	19380											
OR5B12	390191	broad.mit.edu	37	chr11	58207122	58207122	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtgttcaactacattggatCtacagaaggagagcctgaaa	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58207122C>A	ENST00000302572.2	-	1	524	c.503G>T	c.(502-504)aGa>aTa	p.R168I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACATTGGATCTACAGAAGGA	0.428													False	0	False	11:58207122	0	A	58207122	C	A	58207122	3	1	88	1	0	0	0	0	1	0	0	0	11216	913	32	3	445	3	OR5B12	11	58207122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201	58207122	76799394	11669	19381											
ZFP91	80829	broad.mit.edu	37	chr11	58381795	58381795	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcagaagcaacttctgCgacatgccaaacatcataca	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58381795C>T	ENST00000316059.6	+	9	1252	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R361*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	361	Interaction with MAP3K14/NIK.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCAACTTCTGCGACATGCCAA	0.388													False	0	False	11:58381795	0	T	58381795	C	T	58381795	4	4	88	1	0	0	0	0	0	1	0	0	17738	760	27	1	1115	1	ZFP91	11	58381795	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174673	58381795	76624721	11670	19382											
ZFP91	80829	broad.mit.edu	37	chr11	58384868	58384868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggctgccaatgcaggcGccctcatcaccagcacagat	9	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58384868G>A	ENST00000316059.6	+	11	1573	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	468					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAATGCAGGCGCCCTCATCAC	0.537													False	0	True	11:58384868	0	A	58384868	G	A	58384868	3	1	88	1	0	0	0	0	1	0	0	0	17738	1087	38	1	1444	1	ZFP91	11	58384868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3073	58384868	76621648	11671	19383											
ZFP91	80829	broad.mit.edu	37	chr11	58385162	58385162	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggttctgattgaagattcaGactctgccggaccttagtgg	12	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58385162G>T	ENST00000316059.6	+	11	1867	c.1696G>T	c.(1696-1698)Gac>Tac	p.D566Y	ZFP91-CNTF_ENST00000389919.4_Intron	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	566					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				tGAAGATTCAGACTCTGCCGG	0.443													False	0	False	11:58385162	0	T	58385162	G	T	58385162	3	4	88	1	0	0	0	0	1	0	0	0	17738	942	33	3	1738	3	ZFP91	11	58385162	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294	58385162	76621354	11672	19384											
GLYATL1	92292	broad.mit.edu	37	chr11	58723238	58723238	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tatgctcggcccagagggagTcccggtctcatgggtaacca	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58723238T>A	ENST00000300079.5	+	7	790	c.740T>A	c.(739-741)gTc>gAc	p.V247D	GLYATL1_ENST00000317391.4_Missense_Mutation_p.V216D|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	216						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCAGAGGGAGTCCCGGTCTCA	0.532													False	0	True	11:58723238	0	A	58723238	T	A	58723238	3	1	88	1	0	0	0	0	1	0	0	0	6525	1667	58	5	766	5	GLYATL1	11	58723238	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	338076	58723238	76283278	11673	19385											
FAM111A	63901	broad.mit.edu	37	chr11	58920006	58920006	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcagagaaaagaaacAcctgtgtgttgagagaacaa	11	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58920006A>G	ENST00000528737.1	+	5	3683	c.865A>G	c.(865-867)Acc>Gcc	p.T289A	FAM111A_ENST00000420244.1_Missense_Mutation_p.T289A|FAM111A_ENST00000531147.1_Missense_Mutation_p.T289A|FAM111A_ENST00000533703.1_Missense_Mutation_p.T289A|FAM111A_ENST00000361723.3_Missense_Mutation_p.T289A			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	289					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GAAAAGAAACACCTGTGTGTT	0.378													False	0	False	11:58920006	0	G	58920006	A	G	58920006	3	3	88	1	0	0	0	0	1	0	0	0	5435	159	6	4	871	4	FAM111A	11	58920006	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	196768	58920006	76086510	11674	19386											
FAM111A	63901	broad.mit.edu	37	chr11	58920677	58920677	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagaaagtccagagtatgtCcatatgtatactcaaagaag	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58920677C>T	ENST00000528737.1	+	5	4354	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	FAM111A_ENST00000420244.1_Silent_p.V512V|FAM111A_ENST00000531147.1_Silent_p.V512V|FAM111A_ENST00000533703.1_Silent_p.V512V|FAM111A_ENST00000361723.3_Silent_p.V512V			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	512					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGAGTATGTCCATATGTATA	0.428													False	0	False	11:58920677	0	T	58920677	C	T	58920677	2	4	88	1	0	0	0	0	0	0	0	1	5435	842	30	2		2	FAM111A	11	58920677	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	671	58920677	76085839	11675	19387											
DTX4	23220	broad.mit.edu	37	chr11	58949753	58949753	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accattcgaggcccactgaaGaccgccccatcgcaggtgat	10	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58949753G>A	ENST00000227451.3	+	2	857	c.753G>A	c.(751-753)aaG>aaA	p.K251K	DTX4_ENST00000532982.1_Silent_p.K145K	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	251					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GCCCACTGAAGACCGCCCCAT	0.642													False	0	False	11:58949753	0	A	58949753	G	A	58949753	2	1	88	1	0	0	0	0	0	0	0	1	4827	933	33	2		2	DTX4	11	58949753	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29076	58949753	76056763	11676	19388											
MPEG1	219972	broad.mit.edu	37	chr11	58978424	58978424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgacattcatggccctccGcagctctatcggttctccca	8	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58978424G>A	ENST00000361050.3	-	1	2000	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	639						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				ATGGCCCTCCGCAGCTCTATC	0.552													False	0	False	11:58978424	0	A	58978424	G	A	58978424	3	1	88	1	0	0	0	0	1	0	0	0	9790	1086	38	1	239	1	MPEG1	11	58978424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28671	58978424	76028092	11677	19389											
MPEG1	219972	broad.mit.edu	37	chr11	58980176	58980176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcccatgtccacattccGcagattgtcccagccccctc	6	19	0	1	rs149377168	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58980176G>A	ENST00000361050.3	-	1	248	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	55	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TCCACATTCCGCAGATTGTCC	0.488													False	0	False	11:58980176	0	A	58980176	G	A	58980176	3	1	88	1	0	0	0	0	1	0	0	0	9790	1086	38	1	1991	1	MPEG1	11	58980176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1752	58980176	76026340	11678	19390											
OR5A2	219981	broad.mit.edu	37	chr11	59189727	59189727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaggcctttgtcctacCtgtagctgagctgatcttca	10	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59189727C>T	ENST00000302040.4	-	1	722	c.700G>A	c.(700-702)Ggt>Agt	p.G234S		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TTTGTCCTACCTGTAGCTGAG	0.478													False	0	False	11:59189727	0	T	59189727	C	T	59189727	3	4	88	1	0	0	0	0	1	0	0	0	11208	681	24	2	276	2	OR5A2	11	59189727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209551	59189727	75816789	11679	19391											
OR5A1	219982	broad.mit.edu	37	chr11	59211133	59211133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctccctgatccaggccagCtccatatttaggcttcactt	7	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59211133C>T	ENST00000302030.2	+	1	517	c.492C>T	c.(490-492)agC>agT	p.S164S		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TCCAGGCCAGCTCCATATTTA	0.557													False	0	False	11:59211133	0	T	59211133	C	T	59211133	2	4	88	1	0	0	0	0	0	0	0	1	11207	796	28	2		2	OR5A1	11	59211133	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21406	59211133	75795383	11680	19392											
OR5A1	219982	broad.mit.edu	37	chr11	59211369	59211369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatggaaagcctgcaacaCgtgtgcctcgcatctgatgg	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59211369C>T	ENST00000302030.2	+	1	753	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCTGCAACACGTGTGCCTCG	0.547													False	0	False	11:59211369	0	T	59211369	C	T	59211369	3	4	88	1	0	0	0	0	1	0	0	0	11207	536	19	1	730	1	OR5A1	11	59211369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	236	59211369	75795147	11681	19393											
OR4D6	219983	broad.mit.edu	37	chr11	59225177	59225177	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcccacatgctggtggtgacTcttcacttcgtgccttgtgt	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59225177T>A	ENST00000300127.2	+	1	767	c.744T>A	c.(742-744)acT>acA	p.T248T		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGGTGGTGACTCTTCACTTCG	0.552													False	0	False	11:59225177	0	A	59225177	T	A	59225177	2	1	88	1	0	0	0	0	0	0	0	1	11126	1538	54	5		5	OR4D6	11	59225177	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13808	59225177	75781339	11682	19394											
OR4D11	219986	broad.mit.edu	37	chr11	59271327	59271327	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagaaaaagaccatatcCtatacaagctgcatgacaca	5	10	1	3	rs141756362		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59271327C>A	ENST00000313253.1	+	1	279	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGACCATATCCTATACAAGCT	0.468													False	0	False	11:59271327	0	A	59271327	C	A	59271327	2	1	88	1	0	0	0	0	0	0	0	1	11123	668	24	3		3	OR4D11	11	59271327	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46150	59271327	75735189	11683	19395											
PATL1	219988	broad.mit.edu	37	chr11	59425059	59425059	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggggtgcctatggggacagCtctaacaggaggactgccaa	15	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59425059C>A	ENST00000300146.9	-	5	649	c.565G>T	c.(565-567)Gct>Tct	p.A189S		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	189	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATGGGGACAGCTCTAACAGGA	0.532													False	0	False	11:59425059	0	A	59425059	C	A	59425059	3	1	88	1	0	0	0	0	1	0	0	0	11543	797	28	3	1807	3	PATL1	11	59425059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153732	59425059	75581457	11684	19396											
STX3	6809	broad.mit.edu	37	chr11	59558002	59558002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctttaggcatggagaaGcatattgaagaagatgaggt	12	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59558002G>A	ENST00000535361.1	+	5	847	c.300G>A	c.(298-300)aaG>aaA	p.K100K	STX3_ENST00000337979.4_Silent_p.K100K|STX3_ENST00000300150.7_Silent_p.K69K|STX3_ENST00000529177.1_Silent_p.K100K|STX3_ENST00000437946.2_Silent_p.K3K			Q13277	STX3_HUMAN	syntaxin 3	100					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GCATGGAGAAGCATATTGAAG	0.453													False	0	False	11:59558002	0	A	59558002	G	A	59558002	2	1	88	1	0	0	0	0	0	0	0	1	15428	962	34	2		2	STX3	11	59558002	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132943	59558002	75448514	11685	19397											
STX3	6809	broad.mit.edu	37	chr11	59560891	59560891	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccaagcaagccctcagtgaGattgagggacgacacaagga	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59560891G>A	ENST00000535361.1	+	8	1126	c.579G>A	c.(577-579)gaG>gaA	p.E193E	STX3_ENST00000337979.4_Silent_p.E193E|STX3_ENST00000300150.7_Silent_p.E162E|STX3_ENST00000529177.1_Silent_p.E193E|STX3_ENST00000437946.2_Silent_p.E96E			Q13277	STX3_HUMAN	syntaxin 3	193	t-SNARE coiled-coil homology.				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CCCTCAGTGAGATTGAGGGAC	0.517													False	0	False	11:59560891	0	A	59560891	G	A	59560891	2	1	88	1	0	0	0	0	0	0	0	1	15428	933	33	2		2	STX3	11	59560891	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2889	59560891	75445625	11686	19398											
STX3	6809	broad.mit.edu	37	chr11	59560935	59560935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggctggagagcagcaTcaaggagcttcacgacatgt	14	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59560935T>C	ENST00000535361.1	+	8	1170	c.623T>C	c.(622-624)aTc>aCc	p.I208T	STX3_ENST00000337979.4_Missense_Mutation_p.I208T|STX3_ENST00000300150.7_Missense_Mutation_p.I177T|STX3_ENST00000529177.1_Missense_Mutation_p.I208T|STX3_ENST00000437946.2_Missense_Mutation_p.I111T			Q13277	STX3_HUMAN	syntaxin 3	208	t-SNARE coiled-coil homology.				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GAGAGCAGCATCAAGGAGCTT	0.527													False	0	False	11:59560935	0	C	59560935	T	C	59560935	3	2	88	1	0	0	0	0	1	0	0	0	15428	1435	50	4	653	4	STX3	11	59560935	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44	59560935	75445581	11687	19399											
TCN1	6947	broad.mit.edu	37	chr11	59620480	59620480	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagcgaacctccaagttttCtccattgcggacaacgtaac	7	14	1	0	rs17851654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59620480C>T	ENST00000257264.3	-	9	1374	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	424					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCAAGTTTTCTCCATTGCGG	0.413													False	0	True	11:59620480	0	T	59620480	C	T	59620480	3	4	88	1	0	0	0	0	1	0	0	0	15788	922	32	2	35	2	TCN1	11	59620480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59545	59620480	75386036	11688	19400											
TCN1	6947	broad.mit.edu	37	chr11	59631526	59631526	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatcattgtattcaacagaGgttttaggcggatgtagttt	12	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59631526G>T	ENST00000257264.3	-	2	217	c.113C>A	c.(112-114)cCt>cAt	p.P38H	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	38					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTCAACAGAGGTTTTAGGCG	0.428													False	0	False	11:59631526	0	T	59631526	G	T	59631526	3	4	88	1	0	0	0	0	1	0	0	0	15788	1000	35	3	1220	3	TCN1	11	59631526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11046	59631526	75374990	11689	19401											
MS4A2	2206	broad.mit.edu	37	chr11	59857209	59857209	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatatctccccaggaagtatCttcaggcagactattgaagt	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857209C>T	ENST00000278888.3	+	2	203	c.101C>T	c.(100-102)tCt>tTt	p.S34F		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	34					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CAGGAAGTATCTTCAGGCAGA	0.463													False	0	False	11:59857209	0	T	59857209	C	T	59857209	3	4	88	1	0	0	0	0	1	0	0	0	9927	913	32	2	107	2	MS4A2	11	59857209	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225683	59857209	75149307	11690	19402											
MS4A2	2206	broad.mit.edu	37	chr11	59857283	59857283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagttttgaaaaaagagcagGagttcctgggggtgagtgag	16	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857283G>A	ENST00000278888.3	+	2	277	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	59					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AAAAGAGCAGGAGTTCCTGGG	0.463													False	0	False	11:59857283	0	A	59857283	G	A	59857283	3	1	88	1	0	0	0	0	1	0	0	0	9927	1175	41	2	181	2	MS4A2	11	59857283	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74	59857283	75149233	11691	19403											
MS4A2	2206	broad.mit.edu	37	chr11	59857875	59857875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgctctgtacttgatAtttcacacattgagggagac	9	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857875A>G	ENST00000278888.3	+	3	355	c.253A>G	c.(253-255)Att>Gtt	p.I85V		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	85					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGTACTTGATATTTCACACAT	0.323													False	0	True	11:59857875	0	G	59857875	A	G	59857875	3	3	88	1	0	0	0	0	1	0	0	0	9927	449	16	4	263	4	MS4A2	11	59857875	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	592	59857875	75148641	11692	19404											
MS4A6A	64231	broad.mit.edu	37	chr11	59949188	59949188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtctcattgggaacagGttgtgatgtcatgatggtgt	15	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59949188G>A	ENST00000528851.1	-	2	153	c.13C>T	c.(13-15)Cct>Tct	p.P5S	MS4A6A_ENST00000420732.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000412309.2_Missense_Mutation_p.P33S|MS4A6A_ENST00000532169.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000426738.2_Missense_Mutation_p.P5S|MS4A6A_ENST00000323961.3_Missense_Mutation_p.P5S|MS4A6A_ENST00000533023.1_Missense_Mutation_p.P5S|MS4A6A_ENST00000529054.1_Missense_Mutation_p.P33S|MS4A6A_ENST00000530839.1_Missense_Mutation_p.P5S			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	5						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGGAACAGGTTGTGATGTC	0.443													False	0	False	11:59949188	0	A	59949188	G	A	59949188	3	1	88	1	0	0	0	0	1	0	0	0	9931	1261	44	2	784	2	MS4A6A	11	59949188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91313	59949188	75057328	11693	19405											
MS4A6E	245802	broad.mit.edu	37	chr11	60105331	60105331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattgcagtgtaagttggacGaaaaggatataccaaccaga	10	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60105331G>A	ENST00000300182.4	+	2	330	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	89						integral to membrane	receptor activity	p.E89K(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TAAGTTGGACGAAAAGGATAT	0.453													False	0	True	11:60105331	0	A	60105331	G	A	60105331	3	1	88	1	0	0	0	0	1	0	0	0	9932	1059	37	1	271	1	MS4A6E	11	60105331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156143	60105331	74901185	11694	19406											
MS4A7	58475	broad.mit.edu	37	chr11	60150639	60150639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattacaatcccaaaccatgGgggtttctcacagctttaca	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60150639G>A	ENST00000358246.1	+	2	218	c.25G>A	c.(25-27)Ggg>Agg	p.G9R	MS4A7_ENST00000534016.1_Missense_Mutation_p.G9R|MS4A7_ENST00000530234.2_Missense_Mutation_p.G9R|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Missense_Mutation_p.G9R	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	9						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CCAAACCATGGGGGTTTCTCA	0.458													False	0	True	11:60150639	0	A	60150639	G	A	60150639	3	1	88	1	0	0	0	0	1	0	0	0	9933	1232	43	2	27	2	MS4A7	11	60150639	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45308	60150639	74855877	11695	19407											
MS4A14	84689	broad.mit.edu	37	chr11	60184368	60184368	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccaaaactgttatgccaaGattcagaatcccaaatacag	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60184368G>A	ENST00000300187.6	+	5	2204	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	MS4A14_ENST00000531787.1_Missense_Mutation_p.D531N|MS4A14_ENST00000531783.1_Missense_Mutation_p.D676N|MS4A14_ENST00000395005.2_Missense_Mutation_p.D626N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	643	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GTTATGCCAAGATTCAGAATC	0.473													False	0	False	11:60184368	0	A	60184368	G	A	60184368	3	1	88	1	0	0	0	0	1	0	0	0	9925	942	33	2	1945	2	MS4A14	11	60184368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33729	60184368	74822148	11696	19408											
MS4A1	931	broad.mit.edu	37	chr11	60229917	60229917	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaggccctattgctatgCaatctggtccaaaaccactc	7	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60229917C>T	ENST00000534668.1	+	2	359	c.70C>T	c.(70-72)Caa>Taa	p.Q24*	MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q24*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q24*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	24					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TATTGCTATGCAATCTGGTCC	0.448													False	0	False	11:60229917	0	T	60229917	C	T	60229917	4	4	88	1	0	0	0	0	0	1	0	0	9921	711	25	2	72	2	MS4A1	11	60229917	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45549	60229917	74776599	11697	19409											
MS4A1	931	broad.mit.edu	37	chr11	60234492	60234492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttgtaatagctggcatcGttgagaatgaatggaaaaga	11	4	0	3	rs148035107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60234492G>A	ENST00000534668.1	+	6	923	c.634G>A	c.(634-636)Gtt>Att	p.V212I	MS4A1_ENST00000532073.1_Missense_Mutation_p.V199I|MS4A1_ENST00000389939.2_Missense_Mutation_p.V212I|MS4A1_ENST00000528313.1_Missense_Mutation_p.V45I|MS4A1_ENST00000345732.4_Missense_Mutation_p.V212I	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	212					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	AGCTGGCATCGTTGAGAATGA	0.418													False	0	False	11:60234492	0	A	60234492	G	A	60234492	3	1	88	1	0	0	0	0	1	0	0	0	9921	1145	40	1	652	1	MS4A1	11	60234492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4575	60234492	74772024	11698	19410											
MS4A12	54860	broad.mit.edu	37	chr11	60271185	60271185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccattaggtgaaaggcagCctgggaatgaacattgttag	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60271185C>T	ENST00000016913.4	+	5	540	c.483C>T	c.(481-483)agC>agT	p.S161S	MS4A12_ENST00000537076.1_Silent_p.S115S	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	161						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TGAAAGGCAGCCTGGGAATGA	0.408													False	0	False	11:60271185	0	T	60271185	C	T	60271185	2	4	88	1	0	0	0	0	0	0	0	1	9923	738	26	2		2	MS4A12	11	60271185	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36693	60271185	74735331	11699	19411											
CCDC86	79080	broad.mit.edu	37	chr11	60617793	60617793	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagcagccggcagccaagAtctgagctcaggacggcccg	13	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60617793A>G	ENST00000227520.5	+	4	1132	c.1078A>G	c.(1078-1080)Atc>Gtc	p.I360V	CCDC86_ENST00000545580.1_Missense_Mutation_p.I104V|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	360					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GGCAGCCAAGATCTGAGCTCA	0.637													False	0	False	11:60617793	0	G	60617793	A	G	60617793	3	3	88	1	0	0	0	0	1	0	0	0	2882	333	12	4	1092	4	CCDC86	11	60617793	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	346608	60617793	74388723	11700	19412											
TMEM109	79073	broad.mit.edu	37	chr11	60689496	60689496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttgctgatcctctacgcCctgctgagccggctcactgg	11	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60689496C>T	ENST00000227525.3	+	4	994	c.591C>T	c.(589-591)gcC>gcT	p.A197A	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Silent_p.A197A	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	197						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TCCTCTACGCCCTGCTGAGCC	0.677													False	0	True	11:60689496	0	T	60689496	C	T	60689496	2	4	88	1	0	0	0	0	0	0	0	1	16107	610	22	2		2	TMEM109	11	60689496	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71703	60689496	74317020	11701	19413											
TMEM132A	54972	broad.mit.edu	37	chr11	60696112	60696112	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcacagccatccctgggCgcctgcgtggtggagctgga	14	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60696112C>T	ENST00000005286.4	+	4	699	c.546C>T	c.(544-546)ggC>ggT	p.G182G	TMEM132A_ENST00000453848.2_Silent_p.G182G	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	182						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CATCCCTGGGCGCCTGCGTGG	0.642													False	0	True	11:60696112	0	T	60696112	C	T	60696112	2	4	88	1	0	0	0	0	0	0	0	1	16127	755	27	1		1	TMEM132A	11	60696112	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6616	60696112	74310404	11702	19414											
TMEM132A	54972	broad.mit.edu	37	chr11	60696127	60696127	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcgcctgcgtggtggaGctggagcttccctcgcactg	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60696127G>T	ENST00000005286.4	+	4	714	c.561G>T	c.(559-561)gaG>gaT	p.E187D	TMEM132A_ENST00000453848.2_Missense_Mutation_p.E187D	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	187						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCGTGGTGGAGCTGGAGCTTC	0.652													False	0	True	11:60696127	0	T	60696127	G	T	60696127	3	4	88	1	0	0	0	0	1	0	0	0	16127	962	34	3	575	3	TMEM132A	11	60696127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	60696127	74310389	11703	19415											
TMEM132A	54972	broad.mit.edu	37	chr11	60697983	60697983	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctatactctcttccccaggAtcaaggtgaagaaggggctg	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60697983A>G	ENST00000005286.4	+	5	1021	c.868A>G	c.(868-870)Atc>Gtc	p.I290V	TMEM132A_ENST00000453848.2_Splice_Site_p.I290V	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	290						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTTCCCCAGGATCAAGGTGAA	0.592													False	0	False	11:60697983	0	G	60697983	A	G	60697983	5	3	88	1	0	0	0	0	0	0	1	0	16127	347	12	4	886	4	TMEM132A	11	60697983	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1856	60697983	74308533	11704	19416											
SLC15A3	51296	broad.mit.edu	37	chr11	60705372	60705372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagtgcagccagccccCgggcaaggacagcagtgcca	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60705372C>T	ENST00000227880.3	-	7	1794	c.1561G>A	c.(1561-1563)Ggg>Agg	p.G521R		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	521					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						AGCCAGCCCCCGGGCAAGGAC	0.637													False	0	True	11:60705372	0	T	60705372	C	T	60705372	3	4	88	1	0	0	0	0	1	0	0	0	14481	652	23	1	192	1	SLC15A3	11	60705372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7389	60705372	74301144	11705	19417											
CD5	921	broad.mit.edu	37	chr11	60886791	60886791	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacagcggcagcctggggggTaccatcagctatgaggccca	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60886791T>C	ENST00000347785.3	+	5	715	c.549T>C	c.(547-549)ggT>ggC	p.G183G		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	183	SRCR 2.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GCCTGGGGGGTACCATCAGCT	0.612													False	0	True	11:60886791	0	C	60886791	T	C	60886791	2	2	88	1	0	0	0	0	0	0	0	1	3044	1625	57	4		4	CD5	11	60886791	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181419	60886791	74119725	11706	19418											
CD5	921	broad.mit.edu	37	chr11	60892563	60892563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgagaaccccacagccTcccacgtggataacgaatac	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60892563T>C	ENST00000347785.3	+	9	1505	c.1339T>C	c.(1339-1341)Tcc>Ccc	p.S447P		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	447					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CCCCACAGCCTCCCACGTGGA	0.592													False	0	True	11:60892563	0	C	60892563	T	C	60892563	3	2	88	1	0	0	0	0	1	0	0	0	3044	1551	54	4	1373	4	CD5	11	60892563	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5772	60892563	74113953	11707	19419											
VPS37C	55048	broad.mit.edu	37	chr11	60899816	60899816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggtgttccctgggggaCtgggcgcaccgggggtggtg	23	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60899816C>T	ENST00000301765.5	-	5	776	c.544G>A	c.(544-546)Gtc>Atc	p.V182I		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	182	Pro-rich.		V -> D (in dbSNP:rs2232142).		cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CCCTGGGGGACTGGGCGCACC	0.672													False	0	False	11:60899816	0	T	60899816	C	T	60899816	3	4	88	1	0	0	0	0	1	0	0	0	17291	565	20	2	527	2	VPS37C	11	60899816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7253	60899816	74106700	11708	19420											
VWCE	220001	broad.mit.edu	37	chr11	61026582	61026582	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccgggcttgtaggtaaagtCtgtgttttcatcaagttcgt	12	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61026582C>A	ENST00000335613.5	-	20	2819	c.2433G>T	c.(2431-2433)caG>caT	p.Q811H	VWCE_ENST00000535710.1_Missense_Mutation_p.Q276H	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	811						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TAGGTAAAGTCTGTGTTTTCA	0.582													False	0	False	11:61026582	0	A	61026582	C	A	61026582	3	1	88	1	0	0	0	0	1	0	0	0	17329	912	32	3	438	3	VWCE	11	61026582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126766	61026582	73979934	11709	19421											
VWCE	220001	broad.mit.edu	37	chr11	61042028	61042028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacacagccccgtctgcGtaccaccggccgtggaaata	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61042028G>A	ENST00000335613.5	-	12	1910	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	508	VWFC 3.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCCGTCTGCGTACCACCGGC	0.552													False	0	False	11:61042028	0	A	61042028	G	A	61042028	2	1	88	1	0	0	0	0	0	0	0	1	17329	1140	40	1		1	VWCE	11	61042028	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15446	61042028	73964488	11710	19422											
VWCE	220001	broad.mit.edu	37	chr11	61048181	61048181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccttttcacaggtcacCttcccgtcctagaagcacaa	5	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61048181C>A	ENST00000335613.5	-	9	1625	c.1239G>T	c.(1237-1239)aaG>aaT	p.K413N		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	413	VWFC 1.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CACAGGTCACCTTCCCGTCCT	0.602													False	0	False	11:61048181	0	A	61048181	C	A	61048181	3	1	88	1	0	0	0	0	1	0	0	0	17329	680	24	3	1676	3	VWCE	11	61048181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6153	61048181	73958335	11711	19423											
DDB1	1642	broad.mit.edu	37	chr11	61068386	61068386	+	Silent	SNP	G	G	A													gctggttctgtcttccgctcGgtgtgaaaggatctccaggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61068386G>A	ENST00000301764.7	-	26	3631	c.3234C>T	c.(3232-3234)acC>acT	p.T1078T	DDB1_ENST00000451943.2_Silent_p.T65T|DDB1_ENST00000538470.1_Silent_p.T125T|DDB1_ENST00000450997.2_Silent_p.T389T	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1078	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTTCCGCTCGGTGTGAAAGG	0.512								Nucleotide excision repair (NER)					False	0	False	11:61068386	0	A	61068386	G	A	61068386	2	1	88	1	0	0	0	0	0	0	0	1	4348	1103	39	1		1	DDB1	11	61068386	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20205	61068386	73938130	11712	19424	220	2									
DDB1	1642	broad.mit.edu	37	chr11	61068395	61068395	+	Silent	SNP	G	G	T													gtcttccgctcggtgtgaaaGgatctccaggtggatgggtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61068395G>T	ENST00000301764.7	-	26	3622	c.3225C>A	c.(3223-3225)tcC>tcA	p.S1075S	DDB1_ENST00000451943.2_Silent_p.S62S|DDB1_ENST00000538470.1_Silent_p.S122S|DDB1_ENST00000450997.2_Silent_p.S386S	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1075	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CGGTGTGAAAGGATCTCCAGG	0.502								Nucleotide excision repair (NER)					False	0	True	11:61068395	0	T	61068395	G	T	61068395	2	4	88	1	0	0	0	0	0	0	0	1	4348	987	35	3		3	DDB1	11	61068395	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9	61068395	73938121	11713	19425	220	2									
DDB1	1642	broad.mit.edu	37	chr11	61079518	61079518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctggatctcatcgatgGtgccaatggtgagggtgcta	14	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61079518G>A	ENST00000301764.7	-	17	2505	c.2108C>T	c.(2107-2109)aCc>aTc	p.T703I	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	703	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCATCGATGGTGCCAATGGT	0.552								Nucleotide excision repair (NER)					False	0	False	11:61079518	0	A	61079518	G	A	61079518	3	1	88	1	0	0	0	0	1	0	0	0	4348	1261	44	2	1358	2	DDB1	11	61079518	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11123	61079518	73926998	11714	19426											
DDB1	1642	broad.mit.edu	37	chr11	61080983	61080983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactcacctgtcaggatagCcatctgaattgaggggacac	11	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61080983C>T	ENST00000301764.7	-	16	2454	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	686	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GTCAGGATAGCCATCTGAATT	0.438								Nucleotide excision repair (NER)					False	0	False	11:61080983	0	T	61080983	C	T	61080983	3	4	88	1	0	0	0	0	1	0	0	0	4348	739	26	2	1413	2	DDB1	11	61080983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1465	61080983	73925533	11715	19427											
CPSF7	79869	broad.mit.edu	37	chr11	61187476	61187476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgggtggccggcctcacGtccactttttctccattaag	10	14	2	0	rs138161429	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61187476G>A	ENST00000340437.4	-	5	677	c.597C>T	c.(595-597)gaC>gaT	p.D199D	CPSF7_ENST00000394888.4_Silent_p.D156D|CPSF7_ENST00000439958.3_Silent_p.D156D|CPSF7_ENST00000541963.1_3'UTR|CPSF7_ENST00000448745.1_Silent_p.D156D	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	156					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CCGGCCTCACGTCCACTTTTT	0.532													False	0	False	11:61187476	0	A	61187476	G	A	61187476	2	1	88	1	0	0	0	0	0	0	0	1	3853	1136	40	1		1	CPSF7	11	61187476	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106493	61187476	73819040	11716	19428											
SYT7	9066	broad.mit.edu	37	chr11	61290707	61290707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcttcttcttctccaccCgcttgtccttgtacatcagc	5	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61290707C>T	ENST00000263846.4	-	8	1274	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SYT7_ENST00000539008.1_Missense_Mutation_p.R599Q|SYT7_ENST00000540677.1_Missense_Mutation_p.R391Q|SYT7_ENST00000542670.1_Missense_Mutation_p.R524Q|SYT7_ENST00000542836.1_Missense_Mutation_p.R360Q|SYT7_ENST00000535826.1_Missense_Mutation_p.R435Q	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	316	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTCTCCACCCGCTTGTCCTT	0.562													False	0	True	11:61290707	0	T	61290707	C	T	61290707	3	4	88	1	0	0	0	0	1	0	0	0	15561	652	23	1	272	1	SYT7	11	61290707	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103231	61290707	73715809	11717	19429											
SYT7	9066	broad.mit.edu	37	chr11	61295552	61295552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcatgatcttcacggTgagcgtggactcctggaagt	13	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61295552T>C	ENST00000263846.4	-	5	784	c.457A>G	c.(457-459)Acc>Gcc	p.T153A	SYT7_ENST00000539008.1_Missense_Mutation_p.T436A|SYT7_ENST00000540677.1_Missense_Mutation_p.T228A|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542670.1_Missense_Mutation_p.T361A|SYT7_ENST00000542836.1_Missense_Mutation_p.T197A|SYT7_ENST00000535826.1_Missense_Mutation_p.T272A	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	153	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATCTTCACGGTGAGCGTGGAC	0.617													False	0	False	11:61295552	0	C	61295552	T	C	61295552	3	2	88	1	0	0	0	0	1	0	0	0	15561	1696	59	4	774	4	SYT7	11	61295552	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4845	61295552	73710964	11718	19430											
SYT7	9066	broad.mit.edu	37	chr11	61323619	61323619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggccgcagaggacgacaGtgacgctaaggctgacggtg	17	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61323619G>T	ENST00000263846.4	-	2	419	c.92C>A	c.(91-93)aCt>aAt	p.T31N	SYT7_ENST00000539008.1_Missense_Mutation_p.T31N|SYT7_ENST00000540677.1_Missense_Mutation_p.T31N|SYT7_ENST00000542670.1_Missense_Mutation_p.T31N|SYT7_ENST00000542836.1_Missense_Mutation_p.T31N|SYT7_ENST00000535826.1_Missense_Mutation_p.T31N	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	31						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGACGACAGTGACGCTAAG	0.667													False	0	False	11:61323619	0	T	61323619	G	T	61323619	3	4	88	1	0	0	0	0	1	0	0	0	15561	1029	36	3	1151	3	SYT7	11	61323619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28067	61323619	73682897	11719	19431											
DAGLA	747	broad.mit.edu	37	chr11	61490390	61490390	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctggctcactcagtacTacacctcctgcaacgacctc	6	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61490390T>C	ENST00000257215.5	+	4	483	c.367T>C	c.(367-369)Tac>Cac	p.Y123H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	123					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CACTCAGTACTACACCTCCTG	0.612													False	0	False	11:61490390	0	C	61490390	T	C	61490390	3	2	88	1	0	0	0	0	1	0	0	0	4251	1522	53	4	377	4	DAGLA	11	61490390	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	166771	61490390	73516126	11720	19432											
DAGLA	747	broad.mit.edu	37	chr11	61498802	61498802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctagcaagagatgctccGctacaaagaggtctgctact	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61498802G>A	ENST00000257215.5	+	9	979	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	288					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAGATGCTCCGCTACAAAGAG	0.632													False	0	False	11:61498802	0	A	61498802	G	A	61498802	3	1	88	1	0	0	0	0	1	0	0	0	4251	1087	38	1	893	1	DAGLA	11	61498802	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8412	61498802	73507714	11721	19433											
DAGLA	747	broad.mit.edu	37	chr11	61503244	61503244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgacgggtgatgctgagCgcctccccgtggaggggcac	16	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61503244C>T	ENST00000257215.5	+	12	1362	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	416					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGATGCTGAGCGCCTCCCCGT	0.667													False	0	False	11:61503244	0	T	61503244	C	T	61503244	3	4	88	1	0	0	0	0	1	0	0	0	4251	768	27	1	1288	1	DAGLA	11	61503244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4442	61503244	73503272	11722	19434											
DAGLA	747	broad.mit.edu	37	chr11	61507115	61507115	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catccacgtggtccacaaccAccctgcagagcagtgctggt	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61507115A>C	ENST00000257215.5	+	17	1951	c.1835A>C	c.(1834-1836)cAc>cCc	p.H612P		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	612					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTCCACAACCACCCTGCAGAG	0.657													False	0	True	11:61507115	0	C	61507115	A	C	61507115	3	2	88	1	0	0	0	0	1	0	0	0	4251	159	6	4	1897	4	DAGLA	11	61507115	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3871	61507115	73499401	11723	19435											
FADS1	3992	broad.mit.edu	37	chr11	61580775	61580775	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctccaatcaggagagagttCatatacttcttcacaaggcc	7	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61580775C>A	ENST00000350997.7	-	2	658	c.426G>T	c.(424-426)atG>atT	p.M142I	FADS1_ENST00000542506.1_Start_Codon_SNP_p.M1I|FADS1_ENST00000433932.1_Start_Codon_SNP_p.M1I|FADS2_ENST00000574708.1_Intron	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	85					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGAGAGAGTTCATATACTTCT	0.512													False	0	False	11:61580775	0	A	61580775	C	A	61580775	3	1	88	1	0	0	0	0	1	0	0	0	5401	826	29	3	1123	3	FADS1	11	61580775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73660	61580775	73425741	11724	19436											
FADS3	3995	broad.mit.edu	37	chr11	61644341	61644341	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccactccctgccatacctgAcagcaacaaagaagagcagc	8	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61644341A>T	ENST00000540820.1	-	8	1052	c.980T>A	c.(979-981)gTc>gAc	p.V327D	FADS3_ENST00000525588.1_Missense_Mutation_p.V299D|FADS3_ENST00000527697.1_Missense_Mutation_p.V203D|FADS3_ENST00000278829.2_Missense_Mutation_p.V327D			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	327					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCCATACCTGACAGCAACAAA	0.612													False	0	False	11:61644341	0	T	61644341	A	T	61644341	3	4	88	1	0	0	0	0	1	0	0	0	5403	275	10	5	377	5	FADS3	11	61644341	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63566	61644341	73362175	11725	19437											
FADS3	3995	broad.mit.edu	37	chr11	61645639	61645639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acactcactcaggaagaagtAcaggtgctgctggttgtagg	13	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61645639A>G	ENST00000540820.1	-	6	868	c.796T>C	c.(796-798)Tac>Cac	p.Y266H	FADS3_ENST00000525588.1_Missense_Mutation_p.Y238H|FADS3_ENST00000527697.1_Missense_Mutation_p.Y142H|FADS3_ENST00000278829.2_Missense_Mutation_p.Y266H			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	266					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGAAGAAGTACAGGTGCTGC	0.602													False	0	False	11:61645639	0	G	61645639	A	G	61645639	3	3	88	1	0	0	0	0	1	0	0	0	5403	391	14	4	569	4	FADS3	11	61645639	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1298	61645639	73360877	11726	19438											
FADS3	3995	broad.mit.edu	37	chr11	61646013	61646013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactcccccaggaggaagaCgggcgccaccgtcacgtctg	13	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61646013C>T	ENST00000540820.1	-	5	790	c.718G>A	c.(718-720)Gtc>Atc	p.V240I	FADS3_ENST00000525588.1_Missense_Mutation_p.V212I|FADS3_ENST00000527697.1_Missense_Mutation_p.V116I|FADS3_ENST00000278829.2_Missense_Mutation_p.V240I			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	240					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGAGGAAGACGGGCGCCACC	0.647													False	0	True	11:61646013	0	T	61646013	C	T	61646013	3	4	88	1	0	0	0	0	1	0	0	0	5403	536	19	1	651	1	FADS3	11	61646013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	374	61646013	73360503	11727	19439											
BEST1	7439	broad.mit.edu	37	chr11	61727416	61727416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctgcctcggatggagcCggacatgtactggaataagc	14	10	0	0	rs148326372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61727416C>T	ENST00000449131.2	+	8	907	c.821C>T	c.(820-822)cCg>cTg	p.P274L	BEST1_ENST00000378043.4_Missense_Mutation_p.P334L|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000526988.1_Missense_Mutation_p.R296W|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000378042.3_Missense_Mutation_p.P247L|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	334					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CGGATGGAGCCGGACATGTAC	0.587													False	0	False	11:61727416	0	T	61727416	C	T	61727416	3	4	88	1	0	0	0	0	1	0	0	0	1408	652	23	1	1031	1	BEST1	11	61727416	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81403	61727416	73279100	11728	19440											
BEST1	7439	broad.mit.edu	37	chr11	61730290	61730290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgaaaatcacctcaaagaacCtttggaacaatcaccaacca	4	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61730290C>A	ENST00000449131.2	+	9	1570	c.1484C>A	c.(1483-1485)cCt>cAt	p.P495H	BEST1_ENST00000378043.4_Missense_Mutation_p.P555H|BEST1_ENST00000301774.9_Missense_Mutation_p.P183H|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000378042.3_Missense_Mutation_p.P468H|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	555					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CTCAAAGAACCTTTGGAACAA	0.478													False	0	True	11:61730290	0	A	61730290	C	A	61730290	3	1	88	1	0	0	0	0	1	0	0	0	1408	681	24	3	1698	3	BEST1	11	61730290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2874	61730290	73276226	11729	19441											
INCENP	3619	broad.mit.edu	37	chr11	61908436	61908436	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcagaggaaccagatgCtcatgaccccgacctcagcc	10	15	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61908436C>A	ENST00000394818.3	+	10	1715	c.1513C>A	c.(1513-1515)Ctc>Atc	p.L505I	INCENP_ENST00000278849.4_Missense_Mutation_p.L505I	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	505					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAACCAGATGCTCATGACCCC	0.632													False	0	False	11:61908436	0	A	61908436	C	A	61908436	3	1	88	1	0	0	0	0	1	0	0	0	7783	797	28	3	1547	3	INCENP	11	61908436	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178146	61908436	73098080	11730	19442											
INCENP	3619	broad.mit.edu	37	chr11	61917621	61917621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgggatggatctgaatagCgacgactccaccgatgatga	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61917621C>T	ENST00000394818.3	+	18	2686	c.2484C>T	c.(2482-2484)agC>agT	p.S828S	INCENP_ENST00000278849.4_Silent_p.S824S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	828					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCTGAATAGCGACGACTCCA	0.592													False	0	False	11:61917621	0	T	61917621	C	T	61917621	2	4	88	1	0	0	0	0	0	0	0	1	7783	767	27	1		1	INCENP	11	61917621	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9185	61917621	73088895	11731	19443											
INCENP	3619	broad.mit.edu	37	chr11	61919402	61919402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcaccgcccctgcaggGcgccagggtccccagcagcc	12	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61919402G>A	ENST00000394818.3	+	19	2913	c.2711G>A	c.(2710-2712)gGc>gAc	p.G904D	INCENP_ENST00000278849.4_Missense_Mutation_p.G900D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	904					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCTGCAGGGCGCCAGGGTC	0.607													False	0	True	11:61919402	0	A	61919402	G	A	61919402	3	1	88	1	0	0	0	0	1	0	0	0	7783	1203	42	2	2781	2	INCENP	11	61919402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1781	61919402	73087114	11732	19444											
SCGB2A1	4246	broad.mit.edu	37	chr11	61977935	61977935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaaaagaccatcaattccGacatatctatacctgaatac	4	10	2	3	rs145763601	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61977935G>A	ENST00000244930.4	+	2	170	c.106G>A	c.(106-108)Gac>Aac	p.D36N		NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	36						extracellular region	androgen binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						CATCAATTCCGACATATCTAT	0.403													False	0	False	11:61977935	0	A	61977935	G	A	61977935	3	1	88	1	0	0	0	0	1	0	0	0	13979	1058	37	1	112	1	SCGB2A1	11	61977935	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58533	61977935	73028581	11733	19445											
SCGB1D4	404552	broad.mit.edu	37	chr11	62064997	62064997	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatatctgatcggtgcagtgCttcacttccaacttggctgc	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62064997C>T	ENST00000358585.1	-	2	242	c.189G>A	c.(187-189)aaG>aaA	p.K63K		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	63						extracellular region	binding			lung(1)|prostate(1)	2						CGGTGCAGTGCTTCACTTCCA	0.428													False	0	False	11:62064997	0	T	62064997	C	T	62064997	2	4	88	1	0	0	0	0	0	0	0	1	13978	796	28	2		2	SCGB1D4	11	62064997	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87062	62064997	72941519	11734	19446											
AHNAK	79026	broad.mit.edu	37	chr11	62284885	62284885	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccaaccagctcacggccagaGaaggtaaatttggggatctt	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62284885G>A	ENST00000378024.4	-	5	17278	c.17004C>T	c.(17002-17004)ttC>ttT	p.F5668F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5668					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACGGCCAGAGAAGGTAAATT	0.532													False	0	False	11:62284885	0	A	62284885	G	A	62284885	2	1	88	1	0	0	0	0	0	0	0	1	414	933	33	2		2	AHNAK	11	62284885	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219888	62284885	72721631	11735	19447											
AHNAK	79026	broad.mit.edu	37	chr11	62285051	62285051	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgaaggcccccagcaAacttagatgtgtccaagttg	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285051A>C	ENST00000378024.4	-	5	17112	c.16838T>G	c.(16837-16839)tTt>tGt	p.F5613C	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5613	Gly-rich.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCCCCAGCAAACTTAGATGT	0.542													False	0	True	11:62285051	0	C	62285051	A	C	62285051	3	2	88	1	0	0	0	0	1	0	0	0	414	14	1	4	954	4	AHNAK	11	62285051	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	166	62285051	72721465	11736	19448											
AHNAK	79026	broad.mit.edu	37	chr11	62285755	62285755	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttagggcatttgatgtcAccagagacagccagatctcc	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285755A>G	ENST00000378024.4	-	5	16408	c.16134T>C	c.(16132-16134)ggT>ggC	p.G5378G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5378					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTTGATGTCACCAGAGACAG	0.512													False	0	False	11:62285755	0	G	62285755	A	G	62285755	2	3	88	1	0	0	0	0	0	0	0	1	414	146	6	4		4	AHNAK	11	62285755	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	704	62285755	72720761	11737	19449											
AHNAK	79026	broad.mit.edu	37	chr11	62285818	62285818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacatctggtgccccaacGttaagctttgttgtggcatc	10	11	2	0	rs137898001		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285818G>A	ENST00000378024.4	-	5	16345	c.16071C>T	c.(16069-16071)aaC>aaT	p.N5357N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5357					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTGCCCCAACGTTAAGCTTTG	0.557													False	0	False	11:62285818	0	A	62285818	G	A	62285818	2	1	88	1	0	0	0	0	0	0	0	1	414	1136	40	1		1	AHNAK	11	62285818	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	62285818	72720698	11738	19450											
AHNAK	79026	broad.mit.edu	37	chr11	62286943	62286943	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttggggctttttgccccAaatccaaacttgggtttctt	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62286943A>G	ENST00000378024.4	-	5	15220	c.14946T>C	c.(14944-14946)ttT>ttC	p.F4982F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4982					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTTTGCCCCAAATCCAAACT	0.448													False	0	True	11:62286943	0	G	62286943	A	G	62286943	2	3	88	1	0	0	0	0	0	0	0	1	414	127	5	4		4	AHNAK	11	62286943	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1125	62286943	72719573	11739	19451											
AHNAK	79026	broad.mit.edu	37	chr11	62287933	62287933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcattttcactttgggCatttttaggtgccagtctgg	12	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62287933C>T	ENST00000378024.4	-	5	14230	c.13956G>A	c.(13954-13956)atG>atA	p.M4652I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4652					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACTTTGGGCATTTTTAGGT	0.537													False	0	True	11:62287933	0	T	62287933	C	T	62287933	3	4	88	1	0	0	0	0	1	0	0	0	414	710	25	2	3836	2	AHNAK	11	62287933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	990	62287933	72718583	11740	19452											
AHNAK	79026	broad.mit.edu	37	chr11	62290929	62290929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgaacttggggcccttcaGctttgcatctggaccttcaa	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62290929G>T	ENST00000378024.4	-	5	11234	c.10960C>A	c.(10960-10962)Ctg>Atg	p.L3654M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3654					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCCCTTCAGCTTTGCATCT	0.473													False	0	False	11:62290929	0	T	62290929	G	T	62290929	3	4	88	1	0	0	0	0	1	0	0	0	414	962	34	3	6832	3	AHNAK	11	62290929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2996	62290929	72715587	11741	19453											
AHNAK	79026	broad.mit.edu	37	chr11	62291340	62291340	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccggaccttccacattgaGatctgggccctcaatgttca	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62291340G>T	ENST00000378024.4	-	5	10823	c.10549C>A	c.(10549-10551)Ctc>Atc	p.L3517I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3517					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATTGAGATCTGGGCCC	0.478													False	0	False	11:62291340	0	T	62291340	G	T	62291340	3	4	88	1	0	0	0	0	1	0	0	0	414	942	33	3	7243	3	AHNAK	11	62291340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	411	62291340	72715176	11742	19454											
AHNAK	79026	broad.mit.edu	37	chr11	62291895	62291895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accggaaacgtccacttctgGgccctttatatccaaactgg	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62291895G>T	ENST00000378024.4	-	5	10268	c.9994C>A	c.(9994-9996)Cca>Aca	p.P3332T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3332					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACTTCTGGGCCCTTTATA	0.418													False	0	True	11:62291895	0	T	62291895	G	T	62291895	3	4	88	1	0	0	0	0	1	0	0	0	414	1232	43	3	7798	3	AHNAK	11	62291895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	555	62291895	72714621	11743	19455											
AHNAK	79026	broad.mit.edu	37	chr11	62293900	62293900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacatcaatgtcagccttGggcagcttcacatccccatc	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62293900G>A	ENST00000378024.4	-	5	8263	c.7989C>T	c.(7987-7989)ccC>ccT	p.P2663P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2663					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCAGCCTTGGGCAGCTTCA	0.512													False	0	True	11:62293900	0	A	62293900	G	A	62293900	2	1	88	1	0	0	0	0	0	0	0	1	414	1335	47	2		2	AHNAK	11	62293900	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2005	62293900	72712616	11744	19456											
AHNAK	79026	broad.mit.edu	37	chr11	62295806	62295806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcatcaatgtccattttgGgtcctttgatgtcaacatct	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62295806G>A	ENST00000378024.4	-	5	6357	c.6083C>T	c.(6082-6084)cCc>cTc	p.P2028L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2028					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCATTTTGGGTCCTTTGAT	0.493													False	0	True	11:62295806	0	A	62295806	G	A	62295806	3	1	88	1	0	0	0	0	1	0	0	0	414	1232	43	2	11709	2	AHNAK	11	62295806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1906	62295806	72710710	11745	19457											
AHNAK	79026	broad.mit.edu	37	chr11	62299043	62299043	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcatatgcaagtccacatcaGgcatggagatcttgggggcc	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299043G>T	ENST00000378024.4	-	5	3120	c.2846C>A	c.(2845-2847)cCt>cAt	p.P949H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	949					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCACATCAGGCATGGAGAT	0.463													False	0	False	11:62299043	0	T	62299043	G	T	62299043	3	4	88	1	0	0	0	0	1	0	0	0	414	1000	35	3	14946	3	AHNAK	11	62299043	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3237	62299043	72707473	11746	19458											
AHNAK	79026	broad.mit.edu	37	chr11	62299103	62299103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaacttggggcccttcAgctttccttcaggtccttca	8	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299103A>G	ENST00000378024.4	-	5	3060	c.2786T>C	c.(2785-2787)cTg>cCg	p.L929P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	929					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGGCCCTTCAGCTTTCCTTC	0.488													False	0	False	11:62299103	0	G	62299103	A	G	62299103	3	3	88	1	0	0	0	0	1	0	0	0	414	188	7	4	15006	4	AHNAK	11	62299103	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60	62299103	72707413	11747	19459											
AHNAK	79026	broad.mit.edu	37	chr11	62299523	62299523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaatgctcacatcaggaGcagtaacatctatcttgggc	8	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299523G>A	ENST00000378024.4	-	5	2640	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	789					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACATCAGGAGCAGTAACATC	0.493													False	0	False	11:62299523	0	A	62299523	G	A	62299523	3	1	88	1	0	0	0	0	1	0	0	0	414	971	34	2	15426	2	AHNAK	11	62299523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	420	62299523	72706993	11748	19460											
AHNAK	79026	broad.mit.edu	37	chr11	62301544	62301544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtactcctcatcatccccGctctgcagaaagacacgccg	8	16	3	2	rs117532364	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62301544G>A	ENST00000378024.4	-	5	619	c.345C>T	c.(343-345)agC>agT	p.S115S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	115					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCATCCCCGCTCTGCAGAA	0.602													False	0	True	11:62301544	0	A	62301544	G	A	62301544	2	1	88	1	0	0	0	0	0	0	0	1	414	1078	38	1		1	AHNAK	11	62301544	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2021	62301544	72704972	11749	19461											
AHNAK	79026	broad.mit.edu	37	chr11	62303437	62303437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccttgaccaccccagtgCgggccgcaggggagttctgc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62303437C>T	ENST00000378024.4	-	3	408	c.134G>A	c.(133-135)cGc>cAc	p.R45H	AHNAK_ENST00000257247.7_Missense_Mutation_p.R45H|AHNAK_ENST00000530124.1_Missense_Mutation_p.R45H	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	45	PDZ.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACCCCAGTGCGGGCCGCAGG	0.682													False	0	True	11:62303437	0	T	62303437	C	T	62303437	3	4	88	1	0	0	0	0	1	0	0	0	414	768	27	1	17666	1	AHNAK	11	62303437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1893	62303437	72703079	11750	19462											
EEF1G	1937	broad.mit.edu	37	chr11	62327638	62327638	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactggcgaaggcattcttcCtcagcttgtccagtcgctgg	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62327638C>A	ENST00000378019.3	-	9	1298	c.1208G>T	c.(1207-1209)aGg>aTg	p.R403M	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.R353M			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	353	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCATTCTTCCTCAGCTTGTC	0.517													False	0	False	11:62327638	0	A	62327638	C	A	62327638	3	1	88	1	0	0	0	0	1	0	0	0	4958	681	24	3	263	3	EEF1G	11	62327638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24201	62327638	72678878	11751	19463											
EEF1G	1937	broad.mit.edu	37	chr11	62334931	62334931	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagacagcccggaactgggGctggttaatgcaggtgagga	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62334931G>T	ENST00000378019.3	-	6	832	c.742C>A	c.(742-744)Ccc>Acc	p.P248T	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Missense_Mutation_p.P198T			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	198					response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGGAACTGGGGCTGGTTAATG	0.537													False	0	True	11:62334931	0	T	62334931	G	T	62334931	3	4	88	1	0	0	0	0	1	0	0	0	4958	1203	42	3	741	3	EEF1G	11	62334931	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7293	62334931	72671585	11752	19464											
TUT1	64852	broad.mit.edu	37	chr11	62343093	62343093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatggcccagtcctgcaCcatctctccaacctctataa	5	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62343093C>T	ENST00000476907.1	-	9	2789	c.2098G>A	c.(2098-2100)Gtg>Atg	p.V700M	MIR3654_ENST00000496634.2_Intron|TUT1_ENST00000308436.7_Missense_Mutation_p.V738M			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	700					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGTCCTGCACCATCTCTCCA	0.617													False	0	False	11:62343093	0	T	62343093	C	T	62343093	3	4	88	1	0	0	0	0	1	0	0	0	16864	507	18	2	530	2	TUT1	11	62343093	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8162	62343093	72663423	11753	19465											
EML3	256364	broad.mit.edu	37	chr11	62373565	62373565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagggccaccaacccgggCccccactgtaccagccggcg	13	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62373565C>T	ENST00000394773.2	-	13	1933	c.1626G>A	c.(1624-1626)ggG>ggA	p.G542G	EML3_ENST00000278845.4_Silent_p.G543G|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000494176.2_Silent_p.G514G|EML3_ENST00000531557.1_Silent_p.G325G|EML3_ENST00000529309.1_Silent_p.G542G	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	542						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCAACCCGGGCCCCCACTGTA	0.637													False	0	True	11:62373565	0	T	62373565	C	T	62373565	2	4	88	1	0	0	0	0	0	0	0	1	5130	726	26	2		2	EML3	11	62373565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30472	62373565	72632951	11754	19466											
EML3	256364	broad.mit.edu	37	chr11	62373584	62373584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccactgtaccagccggCggtcccgcccgccaccactc	9	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62373584C>T	ENST00000394773.2	-	13	1914	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	EML3_ENST00000278845.4_Missense_Mutation_p.R537H|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000494176.2_Missense_Mutation_p.R508H|EML3_ENST00000531557.1_Missense_Mutation_p.R319H|EML3_ENST00000529309.1_Missense_Mutation_p.R536H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	536						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TACCAGCCGGCGGTCCCGCCC	0.642													False	0	False	11:62373584	0	T	62373584	C	T	62373584	3	4	88	1	0	0	0	0	1	0	0	0	5130	768	27	1	1123	1	EML3	11	62373584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	62373584	72632932	11755	19467											
EML3	256364	broad.mit.edu	37	chr11	62376231	62376231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatccttatccactccagCtgtctgtcccgaggctaccc	6	18	1	0	rs149696913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62376231C>T	ENST00000394773.2	-	8	1283	c.976G>A	c.(976-978)Gct>Act	p.A326T	EML3_ENST00000278845.4_Missense_Mutation_p.A327T|EML3_ENST00000494176.2_Missense_Mutation_p.A298T|EML3_ENST00000531557.1_Missense_Mutation_p.A109T|EML3_ENST00000529309.1_Missense_Mutation_p.A326T	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	326						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCACTCCAGCTGTCTGTCCC	0.527													False	0	True	11:62376231	0	T	62376231	C	T	62376231	3	4	88	1	0	0	0	0	1	0	0	0	5130	797	28	2	1774	2	EML3	11	62376231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2647	62376231	72630285	11756	19468											
B3GAT3	26229	broad.mit.edu	37	chr11	62384603	62384603	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggccttgttccgctgctcGacaccacggggatgaaccca	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62384603G>A	ENST00000531383.1	-	3	680	c.474C>T	c.(472-474)gtC>gtT	p.V158V	B3GAT3_ENST00000265471.5_Silent_p.V158V|B3GAT3_ENST00000534026.1_Silent_p.V158V			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	158					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TCCGCTGCTCGACACCACGGG	0.672													False	0	False	11:62384603	0	A	62384603	G	A	62384603	2	1	88	1	0	0	0	0	0	0	0	1	1259	1045	37	1		1	B3GAT3	11	62384603	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8372	62384603	72621913	11757	19469											
B3GAT3	26229	broad.mit.edu	37	chr11	62388054	62388054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagggggtggccgtcggaGttccgcttgcagctgggaaa	19	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62388054G>A	ENST00000531383.1	-	2	378	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	B3GAT3_ENST00000265471.5_Missense_Mutation_p.L58F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.L58F			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	58					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GGCCGTCGGAGTTCCGCTTGC	0.647													False	0	False	11:62388054	0	A	62388054	G	A	62388054	3	1	88	1	0	0	0	0	1	0	0	0	1259	1029	36	2	851	2	B3GAT3	11	62388054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3451	62388054	72618462	11758	19470											
GANAB	23193	broad.mit.edu	37	chr11	62393376	62393376	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggtcatgctggaaggAcaggcggctttctggagatc	15	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62393376A>G	ENST00000346178.4	-	25	2827	c.2812T>C	c.(2812-2814)Tcc>Ccc	p.S938P	GANAB_ENST00000534779.1_Missense_Mutation_p.S824P|GANAB_ENST00000356638.3_Missense_Mutation_p.S916P|GANAB_ENST00000540933.1_Missense_Mutation_p.S819P	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	916					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGCTGGAAGGACAGGCGGCTT	0.512													False	0	False	11:62393376	0	G	62393376	A	G	62393376	3	3	88	1	0	0	0	0	1	0	0	0	6276	275	10	4	92	4	GANAB	11	62393376	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5322	62393376	72613140	11759	19471											
GANAB	23193	broad.mit.edu	37	chr11	62400663	62400663	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgagcccctcaccatacggCttgctgtcagagtgagtttt	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62400663C>A	ENST00000346178.4	-	8	792	c.777G>T	c.(775-777)aaG>aaT	p.K259N	GANAB_ENST00000534779.1_Missense_Mutation_p.K145N|GANAB_ENST00000356638.3_Missense_Mutation_p.K237N|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Missense_Mutation_p.K140N	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	237					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CACCATACGGCTTGCTGTCAG	0.537													False	0	False	11:62400663	0	A	62400663	C	A	62400663	3	1	88	1	0	0	0	0	1	0	0	0	6276	796	28	3	2195	3	GANAB	11	62400663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7287	62400663	72605853	11760	19472											
INTS5	80789	broad.mit.edu	37	chr11	62416125	62416125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaacatggtttttgagcGcatctaaaaagggcaccaag	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62416125G>A	ENST00000330574.2	-	2	1479	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	476					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GTTTTTGAGCGCATCTAAAAA	0.587													False	0	False	11:62416125	0	A	62416125	G	A	62416125	3	1	88	1	0	0	0	0	1	0	0	0	7831	1087	38	1	1636	1	INTS5	11	62416125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15462	62416125	72590391	11761	19473											
INTS5	80789	broad.mit.edu	37	chr11	62417038	62417038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtagcagttcattaagagCgccagtagcgtggggaacac	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62417038C>T	ENST00000330574.2	-	2	566	c.514G>A	c.(514-516)Gct>Act	p.A172T		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	172					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TCATTAAGAGCGCCAGTAGCG	0.567													False	0	False	11:62417038	0	T	62417038	C	T	62417038	3	4	88	1	0	0	0	0	1	0	0	0	7831	768	27	1	2549	1	INTS5	11	62417038	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	913	62417038	72589478	11762	19474											
INTS5	80789	broad.mit.edu	37	chr11	62417472	62417472	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgggacagctcctgagcaCtacaaggaagcaaaagaaac	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62417472C>A	ENST00000330574.2	-	2	133		c.e2-1		RP11-831H9.11_ENST00000528405.1_Splice_Site	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5						snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CTCCTGAGCACTACAAGGAAG	0.463													False	0	False	11:62417472	0	A	62417472	C	A	62417472	5	1	88	1	0	0	0	0	0	0	1	0	7831	579	20	3	2983	3	INTS5	11	62417472	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	434	62417472	72589044	11763	19475											
UBXN1	51035	broad.mit.edu	37	chr11	62444433	62444433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagctgccagctgttcccgGgcccggaacgtctgggtcag	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62444433G>A	ENST00000294119.2	-	8	827	c.696C>T	c.(694-696)gcC>gcT	p.A232A	UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000301935.5_Silent_p.A232A|UBXN1_ENST00000529640.1_Silent_p.A228A	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	232	Interaction with BRCA1.|UBX.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GCTGTTCCCGGGCCCGGAACG	0.597													False	0	True	11:62444433	0	A	62444433	G	A	62444433	2	1	88	1	0	0	0	0	0	0	0	1	16995	1219	43	2		2	UBXN1	11	62444433	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26961	62444433	72562083	11764	19476											
BSCL2	26580	broad.mit.edu	37	chr11	62472966	62472966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccacagtaaggcaggtaCtggagggtcgttgaccatgg	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62472966C>T	ENST00000433053.1	-	3	767	c.211G>A	c.(211-213)Gta>Ata	p.V71I	BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000421906.1_Missense_Mutation_p.V7I|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.V7I|BSCL2_ENST00000407022.3_Missense_Mutation_p.V7I|BSCL2_ENST00000405837.1_Missense_Mutation_p.V71I|BSCL2_ENST00000360796.5_Missense_Mutation_p.V71I|BSCL2_ENST00000278893.7_Missense_Mutation_p.V7I			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	7					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAGGCAGGTACTGGAGGGTCG	0.657													False	0	False	11:62472966	0	T	62472966	C	T	62472966	3	4	88	1	0	0	0	0	1	0	0	0	1534	565	20	2	1217	2	BSCL2	11	62472966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28533	62472966	72533550	11765	19477											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62482812	62482812	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagtaattcctgtagtatcGgtctctgtcctgggggtggt	14	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62482812G>T	ENST00000301785.5	-	14	2395	c.2203C>A	c.(2203-2205)Cga>Aga	p.R735R	HNRNPUL2-BSCL2_ENST00000403734.2_Intron	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	735	Tyr-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGTAGTATCGGTCTCTGTCC	0.552													False	0	False	11:62482812	0	T	62482812	G	T	62482812	2	4	88	1	0	0	0	0	0	0	0	1	7322	1124	39	3		3	HNRNPUL2	11	62482812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9846	62482812	72523704	11766	19478											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62491420	62491420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaagagtttgatcctcctcCtcatcttttgcctcttcttc	4	14	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62491420C>A	ENST00000301785.5	-	3	909	c.717G>T	c.(715-717)gaG>gaT	p.E239D	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E239D	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	239	B30.2/SPRY.|Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GATCCTCCTCCTCATCTTTTG	0.393													False	0	True	11:62491420	0	A	62491420	C	A	62491420	3	1	88	1	0	0	0	0	1	0	0	0	7322	680	24	3	1574	3	HNRNPUL2	11	62491420	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8608	62491420	72515096	11767	19479											
TAF6L	10629	broad.mit.edu	37	chr11	62545792	62545792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatggcaaagggaacctgGcacctcaaggatcgggtaag	15	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62545792G>A	ENST00000294168.3	+	5	622	c.421G>A	c.(421-423)Gca>Aca	p.A141T	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	141					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						AGGGAACCTGGCACCTCAAGG	0.542													False	0	False	11:62545792	0	A	62545792	G	A	62545792	3	1	88	1	0	0	0	0	1	0	0	0	15613	1203	42	2	435	2	TAF6L	11	62545792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54372	62545792	72460724	11768	19480											
TAF6L	10629	broad.mit.edu	37	chr11	62549675	62549675	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgcacctgtgcttggggCcctatgtccgctgtctggtg	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62549675C>T	ENST00000294168.3	+	8	898	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	233					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GTGCTTGGGGCCCTATGTCCG	0.597													False	0	True	11:62549675	0	T	62549675	C	T	62549675	3	4	88	1	0	0	0	0	1	0	0	0	15613	739	26	2	723	2	TAF6L	11	62549675	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3883	62549675	72456841	11769	19481											
TAF6L	10629	broad.mit.edu	37	chr11	62549768	62549768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgaccactggactctgCgggatggggctgccctcctg	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62549768C>T	ENST00000294168.3	+	8	991	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	264					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGGACTCTGCGGGATGGGGC	0.617													False	0	True	11:62549768	0	T	62549768	C	T	62549768	3	4	88	1	0	0	0	0	1	0	0	0	15613	759	27	1	816	1	TAF6L	11	62549768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93	62549768	72456748	11770	19482											
TMEM179B	374395	broad.mit.edu	37	chr11	62557503	62557503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgctctcgttgggtcacGcctttcccattcctgaagaa	9	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62557503G>A	ENST00000333449.4	+	5	649	c.644G>A	c.(643-645)cGc>cAc	p.R215H	TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000307366.7_3'UTR|TMEM223_ENST00000525631.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	215						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GTTGGGTCACGCCTTTCCCAT	0.582													False	0	False	11:62557503	0	A	62557503	G	A	62557503	3	1	88	1	0	0	0	0	1	0	0	0	16179	1087	38	1	662	1	TMEM179B	11	62557503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7735	62557503	72449013	11771	19483											
WDR74	54663	broad.mit.edu	37	chr11	62601979	62601979	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggccggcgctggggggaTgctggatcataaacacggac	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62601979T>C	ENST00000525239.1	-	8	1176	c.639A>G	c.(637-639)gcA>gcG	p.A213A	WDR74_ENST00000278856.4_Silent_p.A213A|WDR74_ENST00000529106.1_Silent_p.A213A|WDR74_ENST00000525752.1_Silent_p.A156A|WDR74_ENST00000311713.7_Silent_p.A213A			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	213						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GCTGGGGGGATGCTGGATCAT	0.577													False	0	False	11:62601979	0	C	62601979	T	C	62601979	2	2	88	1	0	0	0	0	0	0	0	1	17408	1451	51	4		4	WDR74	11	62601979	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44476	62601979	72404537	11772	19484											
SLC22A6	9356	broad.mit.edu	37	chr11	62751503	62751503	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctggcgtagggccctgtgaGagcacacaaggtcccactgt	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62751503G>A	ENST00000377871.3	-	2	652	c.386C>T	c.(385-387)tCt>tTt	p.S129F	SLC22A6_ENST00000458333.2_Missense_Mutation_p.S129F|SLC22A6_ENST00000421062.2_Missense_Mutation_p.S129F|SLC22A6_ENST00000360421.4_Missense_Mutation_p.S129F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	129					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGCCCTGTGAGAGCACACAAG	0.622													False	0	False	11:62751503	0	A	62751503	G	A	62751503	3	1	88	1	0	0	0	0	1	0	0	0	14538	942	33	2	1341	2	SLC22A6	11	62751503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149524	62751503	72255013	11773	19485											
SLC22A8	9376	broad.mit.edu	37	chr11	62760994	62760994	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggagggcggtgatcccgtaGatgatattggggatgaaggg	19	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62760994G>T	ENST00000336232.2	-	10	1566	c.1431C>A	c.(1429-1431)atC>atA	p.I477I	SLC22A8_ENST00000545207.1_Silent_p.I386I|SLC22A8_ENST00000311438.8_Silent_p.I477I|SLC22A8_ENST00000430500.2_Silent_p.I477I|SLC22A8_ENST00000535878.1_Silent_p.I354I	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	477					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TGATCCCGTAGATGATATTGG	0.582													False	0	False	11:62760994	0	T	62760994	G	T	62760994	2	4	88	1	0	0	0	0	0	0	0	1	14540	932	33	3		3	SLC22A8	11	62760994	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9491	62760994	72245522	11774	19486											
HRASLS5	117245	broad.mit.edu	37	chr11	63257730	63257730	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttacccttgctggatgcttCtgccctgttctaatgtgccc	8	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63257730C>T	ENST00000540857.1	-	2	356	c.224G>A	c.(223-225)aGa>aAa	p.R75K	HRASLS5_ENST00000301790.4_Missense_Mutation_p.R85K|HRASLS5_ENST00000539221.1_Missense_Mutation_p.R85K	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	85										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTGGATGCTTCTGCCCTGTTC	0.493													False	0	False	11:63257730	0	T	63257730	C	T	63257730	3	4	88	1	0	0	0	0	1	0	0	0	7398	913	32	2	605	2	HRASLS5	11	63257730	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	496736	63257730	71748786	11775	19487											
LGALS12	85329	broad.mit.edu	37	chr11	63283034	63283034	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcctcctgcttcctgcaGttttactgtgagcctgaggg	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63283034G>A	ENST00000415491.2	+	7	1144		c.e7-1		LGALS12_ENST00000255684.5_Splice_Site|LGALS12_ENST00000340246.5_Splice_Site|LGALS12_ENST00000425950.2_Splice_Site|LGALS12_ENST00000394618.3_Splice_Site	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12						apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GCTTCCTGCAGTTTTACTGTG	0.622													False	0	True	11:63283034	0	A	63283034	G	A	63283034	5	1	88	1	0	0	0	0	0	0	1	0	8790	1043	36	2	746	2	LGALS12	11	63283034	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25304	63283034	71723482	11776	19488											
RARRES3	5920	broad.mit.edu	37	chr11	63307000	63307000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcagccacaccaagagCccaaacctggagacctgatt	9	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63307000C>T	ENST00000439013.2	+	2	75	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	RARRES3_ENST00000255688.3_Missense_Mutation_p.P8S|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.P8S			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	8					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						ACACCAAGAGCCCAAACCTGG	0.552													False	0	True	11:63307000	0	T	63307000	C	T	63307000	3	4	88	1	0	0	0	0	1	0	0	0	13136	739	26	2	28	2	RARRES3	11	63307000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23966	63307000	71699516	11777	19489											
RARRES3	5920	broad.mit.edu	37	chr11	63307081	63307081	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggagatggctacgtgatcCatctggctcctccaagtaag	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63307081C>A	ENST00000439013.2	+	2	156	c.103C>A	c.(103-105)Cat>Aat	p.H35N	RARRES3_ENST00000255688.3_Missense_Mutation_p.H35N|RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000354445.2_Missense_Mutation_p.H35N			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	35					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						CTACGTGATCCATCTGGCTCC	0.473													False	0	False	11:63307081	0	A	63307081	C	A	63307081	3	1	88	1	0	0	0	0	1	0	0	0	13136	594	21	3	109	3	RARRES3	11	63307081	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81	63307081	71699435	11778	19490											
RARRES3	5920	broad.mit.edu	37	chr11	63312164	63312164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagaggtgaaacgggagCgcctggaagatgtggtggga	20	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63312164C>T	ENST00000439013.2	+	3	243	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	RARRES3_ENST00000255688.3_Missense_Mutation_p.R64C|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.R64C			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	64					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GAAACGGGAGCGCCTGGAAGA	0.582													False	0	False	11:63312164	0	T	63312164	C	T	63312164	3	4	88	1	0	0	0	0	1	0	0	0	13136	768	27	1	200	1	RARRES3	11	63312164	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5083	63312164	71694352	11779	19491											
RARRES3	5920	broad.mit.edu	37	chr11	63312262	63312262	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggtgatcatcagttctgcGaaggagatggttggtcagaa	15	5	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63312262G>A	ENST00000439013.2	+	3	341	c.288G>A	c.(286-288)gcG>gcA	p.A96A	RARRES3_ENST00000255688.3_Silent_p.A96A|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Silent_p.A96A			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	96					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TCAGTTCTGCGAAGGAGATGG	0.527													False	0	False	11:63312262	0	A	63312262	G	A	63312262	2	1	88	1	0	0	0	0	0	0	0	1	13136	1045	37	1		1	RARRES3	11	63312262	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	63312262	71694254	11780	19492											
HRASLS2	54979	broad.mit.edu	37	chr11	63327622	63327622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagtgtgcatagccaaagCgagaaatctcaatcaggtct	9	11	3	1	rs151240711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63327622C>T	ENST00000255695.1	-	2	111	c.53G>A	c.(52-54)cGc>cAc	p.R18H		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	18					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATAGCCAAAGCGAGAAATCTC	0.502													False	0	False	11:63327622	0	T	63327622	C	T	63327622	3	4	88	1	0	0	0	0	1	0	0	0	7397	768	27	1	447	1	HRASLS2	11	63327622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15360	63327622	71678894	11781	19493											
RTN3	10313	broad.mit.edu	37	chr11	63487245	63487245	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggaaaacctgtacctgactCtttgaattccacaaaagaat	6	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63487245C>A	ENST00000377819.5	+	3	1425	c.1271C>A	c.(1270-1272)tCt>tAt	p.S424Y	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S312Y|RTN3_ENST00000339997.4_Missense_Mutation_p.S405Y|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	424					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GTACCTGACTCTTTGAATTCC	0.423													False	0	True	11:63487245	0	A	63487245	C	A	63487245	3	1	88	1	0	0	0	0	1	0	0	0	13806	913	32	3	1281	3	RTN3	11	63487245	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159623	63487245	71519271	11782	19494											
RTN3	10313	broad.mit.edu	37	chr11	63487781	63487781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagttgctcctgaaaagCctattactactgagaacccc	8	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63487781C>T	ENST00000377819.5	+	3	1961	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.P491S|RTN3_ENST00000339997.4_Missense_Mutation_p.P584S|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	603					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCCTGAAAAGCCTATTACTAC	0.403													False	0	False	11:63487781	0	T	63487781	C	T	63487781	3	4	88	1	0	0	0	0	1	0	0	0	13806	739	26	2	1817	2	RTN3	11	63487781	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	536	63487781	71518735	11783	19495											
RTN3	10313	broad.mit.edu	37	chr11	63517644	63517644	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccgtcatccaagctgtacaGaagtcagaagaaggccatcc	9	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63517644G>T	ENST00000377819.5	+	4	2866	c.2712G>T	c.(2710-2712)caG>caT	p.Q904H	RTN3_ENST00000341307.2_Missense_Mutation_p.Q108H|RTN3_ENST00000540798.1_Missense_Mutation_p.Q792H|RTN3_ENST00000339997.4_Missense_Mutation_p.Q885H|RTN3_ENST00000356000.3_Missense_Mutation_p.Q127H|RTN3_ENST00000537981.1_Missense_Mutation_p.Q108H|RTN3_ENST00000354497.4_Missense_Mutation_p.Q108H	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	904	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAGCTGTACAGAAGTCAGAAG	0.438													False	0	False	11:63517644	0	T	63517644	G	T	63517644	3	4	88	1	0	0	0	0	1	0	0	0	13806	933	33	3	2726	3	RTN3	11	63517644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29863	63517644	71488872	11784	19496											
C11orf84	144097	broad.mit.edu	37	chr11	63585407	63585407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcagcccaggaggcagCgggcgggcactgtgcatggt	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63585407C>T	ENST00000294244.4	+	2	557	c.258C>T	c.(256-258)agC>agT	p.S86S		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	86										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGGAGGCAGCGGGCGGGCAC	0.667													False	0	True	11:63585407	0	T	63585407	C	T	63585407	2	4	88	1	0	0	0	0	0	0	0	1	1675	767	27	1		1	C11orf84	11	63585407	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67763	63585407	71421109	11785	19497											
C11orf84	144097	broad.mit.edu	37	chr11	63586402	63586402	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acacccagctcaggggcccaGacagcaaggactcacccaaa	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63586402G>A	ENST00000294244.4	+	5	1161	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	288										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGGGGCCCAGACAGCAAGGA	0.642													False	0	False	11:63586402	0	A	63586402	G	A	63586402	3	1	88	1	0	0	0	0	1	0	0	0	1675	942	33	2	880	2	C11orf84	11	63586402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	995	63586402	71420114	11786	19498											
MARK2	2011	broad.mit.edu	37	chr11	63667527	63667527	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtgtggagcctaggagTtatcctctatacactggtca	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63667527T>C	ENST00000402010.2	+	8	1292	c.713T>C	c.(712-714)gTt>gCt	p.V238A	MARK2_ENST00000350490.7_Missense_Mutation_p.V238A|MARK2_ENST00000377809.4_Missense_Mutation_p.V238A|MARK2_ENST00000377810.3_Missense_Mutation_p.V205A|MARK2_ENST00000315032.8_Missense_Mutation_p.V238A|MARK2_ENST00000513765.2_Missense_Mutation_p.V205A|MARK2_ENST00000502399.3_Missense_Mutation_p.V238A|MARK2_ENST00000361128.5_Missense_Mutation_p.V238A|MARK2_ENST00000408948.3_Missense_Mutation_p.V205A|MARK2_ENST00000508192.1_Missense_Mutation_p.V238A|MARK2_ENST00000425897.2_Missense_Mutation_p.V205A|MARK2_ENST00000509502.2_Missense_Mutation_p.V205A|MARK2_ENST00000413835.2_Missense_Mutation_p.V238A	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	238	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCCTAGGAGTTATCCTCTAT	0.507													False	0	False	11:63667527	0	C	63667527	T	C	63667527	3	2	88	1	0	0	0	0	1	0	0	0	9380	1725	60	4	743	4	MARK2	11	63667527	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81125	63667527	71338989	11787	19499											
MARK2	2011	broad.mit.edu	37	chr11	63676641	63676641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacggggttcgatttaagCggatatcgggcacctccatg	12	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63676641C>T	ENST00000402010.2	+	19	2878	c.2299C>T	c.(2299-2301)Cgg>Tgg	p.R767W	MARK2_ENST00000350490.7_Missense_Mutation_p.R688W|MARK2_ENST00000377809.4_Missense_Mutation_p.R752W|MARK2_ENST00000377810.3_Missense_Mutation_p.R670W|MARK2_ENST00000315032.8_Missense_Mutation_p.R758W|MARK2_ENST00000513765.2_Missense_Mutation_p.R734W|MARK2_ENST00000502399.3_Missense_Mutation_p.R757W|MARK2_ENST00000361128.5_Missense_Mutation_p.R698W|MARK2_ENST00000408948.3_Missense_Mutation_p.R670W|MARK2_ENST00000508192.1_Missense_Mutation_p.R703W|MARK2_ENST00000425897.2_Missense_Mutation_p.R678W|MARK2_ENST00000509502.2_Missense_Mutation_p.R724W|MARK2_ENST00000413835.2_Missense_Mutation_p.R713W	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	767	KA1.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TCGATTTAAGCGGATATCGGG	0.612													False	0	False	11:63676641	0	T	63676641	C	T	63676641	3	4	88	1	0	0	0	0	1	0	0	0	9380	759	27	1	2373	1	MARK2	11	63676641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9114	63676641	71329875	11788	19500											
NAA40	79829	broad.mit.edu	37	chr11	63720001	63720001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgccttttctcacttccGgtttgacgtggagtgtgggg	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63720001G>A	ENST00000377793.4	+	5	475	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	NAA40_ENST00000539656.1_Intron|NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000456907.2_Missense_Mutation_p.R85Q|NAA40_ENST00000542163.1_Missense_Mutation_p.R104Q	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	125	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						TCTCACTTCCGGTTTGACGTG	0.577													False	0	False	11:63720001	0	A	63720001	G	A	63720001	3	1	88	1	0	0	0	0	1	0	0	0	10192	1116	39	1	392	1	NAA40	11	63720001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43360	63720001	71286515	11789	19501											
NAA40	79829	broad.mit.edu	37	chr11	63721914	63721914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttggggacagccatcactCccacgcgggtgggcactgtg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63721914C>T	ENST00000377793.4	+	8	778	c.677C>T	c.(676-678)tCc>tTc	p.S226F	NAA40_ENST00000539656.1_Missense_Mutation_p.S113F|NAA40_ENST00000456907.2_Missense_Mutation_p.S186F|NAA40_ENST00000542163.1_Missense_Mutation_p.S205F	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	226							N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AGCCATCACTCCCACGCGGGT	0.562													False	0	True	11:63721914	0	T	63721914	C	T	63721914	3	4	88	1	0	0	0	0	1	0	0	0	10192	855	30	2	707	2	NAA40	11	63721914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1913	63721914	71284602	11790	19502											
MACROD1	28992	broad.mit.edu	37	chr11	63782725	63782725	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagaaggtccactcaccGccaccgcctccgagcaggga	11	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63782725G>A	ENST00000255681.6	-	4	612	c.546C>T	c.(544-546)ggC>ggT	p.G182G		NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	182	Macro.									breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TCCACTCACCGCCACCGCCTC	0.657													False	0	True	11:63782725	0	A	63782725	G	A	63782725	5	1	88	1	0	0	0	0	0	0	1	0	9208	1101	38	1	459	1	MACROD1	11	63782725	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60811	63782725	71223791	11791	19503											
FLRT1	23769	broad.mit.edu	37	chr11	63883842	63883842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatggacctgcgggactggCtgttcctctgctacgggctc	13	14	1	0	rs142810860	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63883842C>A	ENST00000246841.3	+	2	1146	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	7	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GCGGGACTGGCTGTTCCTCTG	0.652													False	0	False	11:63883842	0	A	63883842	C	A	63883842	3	1	88	1	0	0	0	0	1	0	0	0	5978	796	28	3	105	3	FLRT1	11	63883842	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101117	63883842	71122674	11792	19504											
FLRT1	23769	broad.mit.edu	37	chr11	63884115	63884115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagttccccatcaacctgCcccgctccctccgggagctg	9	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63884115C>T	ENST00000246841.3	+	2	1419	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	98					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CATCAACCTGCCCCGCTCCCT	0.607													False	0	True	11:63884115	0	T	63884115	C	T	63884115	3	4	88	1	0	0	0	0	1	0	0	0	5978	739	26	2	378	2	FLRT1	11	63884115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	273	63884115	71122401	11793	19505											
FLRT1	23769	broad.mit.edu	37	chr11	63884481	63884481	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgacaccttcagccgcctaCagaacctcacagagctctcg	7	17	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63884481C>T	ENST00000246841.3	+	2	1785	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	220					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CAGCCGCCTACAGAACCTCAC	0.652													False	0	False	11:63884481	0	T	63884481	C	T	63884481	4	4	88	1	0	0	0	0	0	1	0	0	5978	479	17	2	744	2	FLRT1	11	63884481	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	366	63884481	71122035	11794	19506											
STIP1	10963	broad.mit.edu	37	chr11	63961682	63961682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctattcacgaaaagcagcaGctctagagttcttaaaccgc	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63961682G>A	ENST00000358794.5	+	3	935	c.382G>A	c.(382-384)Gct>Act	p.A128T	STIP1_ENST00000538945.1_Intron|STIP1_ENST00000543847.1_Missense_Mutation_p.A81T|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000305218.4_Missense_Mutation_p.A81T	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	81					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AAAAGCAGCAGCTCTAGAGTT	0.418													False	0	True	11:63961682	0	A	63961682	G	A	63961682	3	1	88	1	0	0	0	0	1	0	0	0	15367	971	34	2	251	2	STIP1	11	63961682	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77201	63961682	71044834	11795	19507											
FERMT3	83706	broad.mit.edu	37	chr11	63978299	63978299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcttccaggctgtggctgCcatctgccgcctcctcagta	9	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63978299C>T	ENST00000279227.5	+	3	472	c.377C>T	c.(376-378)gCc>gTc	p.A126V	FERMT3_ENST00000345728.5_Missense_Mutation_p.A126V	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	126					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCTGTGGCTGCCATCTGCCGC	0.662													False	0	False	11:63978299	0	T	63978299	C	T	63978299	3	4	88	1	0	0	0	0	1	0	0	0	5859	739	26	2	383	2	FERMT3	11	63978299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16617	63978299	71028217	11796	19508											
FERMT3	83706	broad.mit.edu	37	chr11	63987987	63987987	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgacagcagctacaccaGcgaggtgcaggccatcctgg	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63987987G>T	ENST00000279227.5	+	12	1498	c.1403G>T	c.(1402-1404)aGc>aTc	p.S468I	FERMT3_ENST00000345728.5_Missense_Mutation_p.S464I	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	468	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						AGCTACACCAGCGAGGTGCAG	0.716													False	0	False	11:63987987	0	T	63987987	G	T	63987987	3	4	88	1	0	0	0	0	1	0	0	0	5859	971	34	3	1445	3	FERMT3	11	63987987	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9688	63987987	71018529	11797	19509											
PLCB3	5331	broad.mit.edu	37	chr11	64021957	64021957	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgtactggacgggccCcaacatggtgagggtgggcg	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64021957C>A	ENST00000540288.1	+	2	273	c.170C>A	c.(169-171)cCc>cAc	p.P57H	PLCB3_ENST00000325234.5_Intron|PLCB3_ENST00000279230.6_Missense_Mutation_p.P57H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	57					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGACGGGCCCCAACATGGTG	0.682													False	0	True	11:64021957	0	A	64021957	C	A	64021957	3	1	88	1	0	0	0	0	1	0	0	0	12098	623	22	3	176	3	PLCB3	11	64021957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33970	64021957	70984559	11798	19510											
PLCB3	5331	broad.mit.edu	37	chr11	64022436	64022436	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaggagaagctgatgAcggtggtgtctgggccagac	19	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64022436A>G	ENST00000540288.1	+	4	416	c.313A>G	c.(313-315)Acg>Gcg	p.T105A	PLCB3_ENST00000325234.5_Missense_Mutation_p.T38A|PLCB3_ENST00000279230.6_Missense_Mutation_p.T105A	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	105					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GAAGCTGATGACGGTGGTGTC	0.612													False	0	False	11:64022436	0	G	64022436	A	G	64022436	3	3	88	1	0	0	0	0	1	0	0	0	12098	275	10	4	327	4	PLCB3	11	64022436	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	479	64022436	70984080	11799	19511											
BAD	572	broad.mit.edu	37	chr11	64051656	64051656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggtggtggggtacttacctCcatgatggctgctgctggtt	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64051656C>T	ENST00000394532.3	-	1	455	c.185G>A	c.(184-186)gGa>gAa	p.G62E	BAD_ENST00000309032.3_Missense_Mutation_p.G62E|BAD_ENST00000394531.3_Missense_Mutation_p.G62E|BAD_ENST00000544785.1_Missense_Mutation_p.G62E	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	62					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GTACTTACCTCCATGATGGCT	0.652													False	0	False	11:64051656	0	T	64051656	C	T	64051656	3	4	88	1	0	0	0	0	1	0	0	0	1289	855	30	2	333	2	BAD	11	64051656	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29220	64051656	70954860	11800	19512											
GPR137	56834	broad.mit.edu	37	chr11	64054213	64054213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgctctgggccgccttgCgtaccaccctcttctccttc	8	18	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64054213C>T	ENST00000539851.1	+	2	684	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	GPR137_ENST00000411458.1_Missense_Mutation_p.R131C|GPR137_ENST00000313074.3_Missense_Mutation_p.R73C|GPR137_ENST00000377702.4_Missense_Mutation_p.R73C|GPR137_ENST00000438980.2_Missense_Mutation_p.R73C	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	73						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GGCCGCCTTGCGTACCACCCT	0.622													False	0	False	11:64054213	0	T	64054213	C	T	64054213	3	4	88	1	0	0	0	0	1	0	0	0	6691	768	27	1	401	1	GPR137	11	64054213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2557	64054213	70952303	11801	19513											
GPR137	56834	broad.mit.edu	37	chr11	64054338	64054338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccttgacgcttatgaaCctctactttgcccaggtaac	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64054338C>T	ENST00000539851.1	+	2	809	c.342C>T	c.(340-342)aaC>aaT	p.N114N	GPR137_ENST00000411458.1_Silent_p.N172N|GPR137_ENST00000313074.3_Silent_p.N114N|GPR137_ENST00000377702.4_Silent_p.N114N|GPR137_ENST00000438980.2_Silent_p.N114N	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	114						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CGCTTATGAACCTCTACTTTG	0.617													False	0	False	11:64054338	0	T	64054338	C	T	64054338	2	4	88	1	0	0	0	0	0	0	0	1	6691	506	18	2		2	GPR137	11	64054338	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125	64054338	70952178	11802	19514											
GPR137	56834	broad.mit.edu	37	chr11	64055662	64055662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctggacaccttcgattaCgactggtacaatgtgtctga	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64055662C>T	ENST00000539851.1	+	5	1226	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GPR137_ENST00000411458.1_Silent_p.Y311Y|GPR137_ENST00000313074.3_Silent_p.Y253Y|GPR137_ENST00000377702.4_Intron|GPR137_ENST00000438980.2_Silent_p.Y253Y	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	253						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCTTCGATTACGACTGGTACA	0.637													False	0	False	11:64055662	0	T	64055662	C	T	64055662	2	4	88	1	0	0	0	0	0	0	0	1	6691	547	19	1		1	GPR137	11	64055662	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1324	64055662	70950854	11803	19515											
GPR137	56834	broad.mit.edu	37	chr11	64056115	64056115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaggtctttgcctctcGgtcctacttctttgaccggg	12	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64056115G>A	ENST00000438980.2	+	6	1060	c.953G>A	c.(952-954)cGg>cAg	p.R318Q	GPR137_ENST00000539851.1_Intron|GPR137_ENST00000411458.1_Missense_Mutation_p.R376Q|GPR137_ENST00000313074.3_Missense_Mutation_p.R318Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R268Q	NM_001170880.1	NP_001164351.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	318						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TTTGCCTCTCGGTCCTACTTC	0.617													False	0	False	11:64056115	0	A	64056115	G	A	64056115	3	1	88	1	0	0	0	0	1	0	0	0	6691	1116	39	1	1157	1	GPR137	11	64056115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453	64056115	70950401	11804	19516											
KCNK4	50801	broad.mit.edu	37	chr11	64064699	64064699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggcaggggtcggggaccGgctgggctcctccctgcgcc	17	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64064699G>A	ENST00000539216.1	+	3	782	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	KCNK4_ENST00000394525.2_Missense_Mutation_p.R141Q|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000422670.2_Missense_Mutation_p.R141Q|KCNK4_ENST00000538767.1_Missense_Mutation_p.G75S|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	141						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GTCGGGGACCGGCTGGGCTCC	0.632													False	0	False	11:64064699	0	A	64064699	G	A	64064699	3	1	88	1	0	0	0	0	1	0	0	0	8118	1116	39	1	432	1	KCNK4	11	64064699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8584	64064699	70941817	11805	19517											
ESRRA	2101	broad.mit.edu	37	chr11	64082215	64082215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctctaattgtcacagcaGccccagtgaatgcactggtg	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64082215G>A	ENST00000405666.1	+	5	808	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	ESRRA_ENST00000406310.1_Splice_Site|ESRRA_ENST00000000442.6_Missense_Mutation_p.A192T	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	192					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TGTCACAGCAGCCCCAGTGAA	0.592													False	0	True	11:64082215	0	A	64082215	G	A	64082215	3	1	88	1	0	0	0	0	1	0	0	0	5292	971	34	2	588	2	ESRRA	11	64082215	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17516	64082215	70924301	11806	19518											
ESRRA	2101	broad.mit.edu	37	chr11	64082498	64082498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcgctgtcgctgtctgaCcagatgtcagtactgcagag	11	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64082498C>T	ENST00000405666.1	+	6	1002	c.768C>T	c.(766-768)gaC>gaT	p.D256D	ESRRA_ENST00000406310.1_Silent_p.D255D|ESRRA_ENST00000000442.6_Silent_p.D256D	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	256	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCTGTCTGACCAGATGTCAG	0.667													False	0	False	11:64082498	0	T	64082498	C	T	64082498	2	4	88	1	0	0	0	0	0	0	0	1	5292	506	18	2		2	ESRRA	11	64082498	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283	64082498	70924018	11807	19519											
CCDC88B	283234	broad.mit.edu	37	chr11	64109494	64109494	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaactgctgctggagcgagAacccctctgcttgaggcctg	13	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64109494A>C	ENST00000356786.5	+	8	748	c.704A>C	c.(703-705)gAa>gCa	p.E235A	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	235					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGAGCGAGAACCCCTCTGC	0.642													False	0	False	11:64109494	0	C	64109494	A	C	64109494	3	2	88	1	0	0	0	0	1	0	0	0	2885	246	9	4	734	4	CCDC88B	11	64109494	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26996	64109494	70897022	11808	19520											
CCDC88B	283234	broad.mit.edu	37	chr11	64111522	64111522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttcttccagtgctggaggaGgctccccagactcctgtggc	13	13	1	1	rs149069335	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64111522G>T	ENST00000356786.5	+	14	1553	c.1509G>T	c.(1507-1509)gaG>gaT	p.E503D	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	503					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCTGGAGGAGGCTCCCCAGA	0.657													False	0	False	11:64111522	0	T	64111522	G	T	64111522	3	4	88	1	0	0	0	0	1	0	0	0	2885	991	35	3	1563	3	CCDC88B	11	64111522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2028	64111522	70894994	11809	19521											
CCDC88B	283234	broad.mit.edu	37	chr11	64111581	64111581	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcttggttcagaaggcaaGggatggaggcccccaggcct	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64111581G>T	ENST00000356786.5	+	14	1612	c.1568G>T	c.(1567-1569)aGg>aTg	p.R523M	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	523					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGAAGGCAAGGGATGGAGGC	0.627													False	0	True	11:64111581	0	T	64111581	G	T	64111581	3	4	88	1	0	0	0	0	1	0	0	0	2885	1000	35	3	1622	3	CCDC88B	11	64111581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59	64111581	70894935	11810	19522											
RPS6KA4	8986	broad.mit.edu	37	chr11	64132779	64132779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcccttccctcagggcctcGattgggtggctctggctgcc	12	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64132779G>A	ENST00000528057.1	+	9	1001	c.913G>A	c.(913-915)Gat>Aat	p.D305N	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.D305N|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.D305N	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	305	AGC-kinase C-terminal.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TCAGGGCCTCGATTGGGTGGC	0.597													False	0	False	11:64132779	0	A	64132779	G	A	64132779	3	1	88	1	0	0	0	0	1	0	0	0	13732	1058	37	1	947	1	RPS6KA4	11	64132779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21198	64132779	70873737	11811	19523											
RPS6KA4	8986	broad.mit.edu	37	chr11	64137088	64137088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaccgcgacctcaagccGgaggtgggcgagctgcctcg	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64137088G>A	ENST00000528057.1	+	13	1666	c.1578G>A	c.(1576-1578)ccG>ccA	p.P526P	RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Silent_p.P533P	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	533	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACCTCAAGCCGGAGGTGGGCG	0.711													False	0	False	11:64137088	0	A	64137088	G	A	64137088	2	1	88	1	0	0	0	0	0	0	0	1	13732	1103	39	1		1	RPS6KA4	11	64137088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4309	64137088	70869428	11812	19524											
RPS6KA4	8986	broad.mit.edu	37	chr11	64138899	64138899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacccgggccgagcccccGtcgcctccaaaggggccccc	11	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64138899G>A	ENST00000528057.1	+	17	2333	c.2245G>A	c.(2245-2247)Gtc>Atc	p.V749I	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.V508I|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.V756I	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	756					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCGAGCCCCCGTCGCCTCCAA	0.731													False	0	True	11:64138899	0	A	64138899	G	A	64138899	3	1	88	1	0	0	0	0	1	0	0	0	13732	1145	40	1	2332	1	RPS6KA4	11	64138899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1811	64138899	70867617	11813	19525											
SLC22A12	116085	broad.mit.edu	37	chr11	64359294	64359294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggccccaccagtgccGccgcttccgccagccacagt	10	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64359294G>A	ENST00000377574.1	+	1	1013	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R89H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R89H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R89H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	89					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CACCAGTGCCGCCGCTTCCGC	0.667													False	0	False	11:64359294	0	A	64359294	G	A	64359294	3	1	88	1	0	0	0	0	1	0	0	0	14524	1087	38	1	268	1	SLC22A12	11	64359294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220395	64359294	70647222	11814	19526											
NRXN2	9379	broad.mit.edu	37	chr11	64374726	64374726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggcgtcttgggggcaGccggggccttctctttcacc	15	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64374726G>A	ENST00000265459.6	-	23	5542	c.5081C>T	c.(5080-5082)gCt>gTt	p.A1694V	NRXN2_ENST00000377551.1_Missense_Mutation_p.A1694V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A1624V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A1687V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A648V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1694					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTGGGGGCAGCCGGGGCCTT	0.612													False	0	False	11:64374726	0	A	64374726	G	A	64374726	3	1	88	1	0	0	0	0	1	0	0	0	10734	971	34	2	61	2	NRXN2	11	64374726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15432	64374726	70631790	11815	19527											
NRXN2	9379	broad.mit.edu	37	chr11	64410050	64410050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggcatgcggttgatggCgatgggcacggtgccgtgct	19	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64410050C>T	ENST00000301894.2	-	1	737	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	NRXN2_ENST00000377551.1_Intron|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000265459.6_Intron|NRXN2_ENST00000409571.1_Intron	NM_138734.2	NP_620063.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	0	Laminin G-like 1.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGGTTGATGGCGATGGGCACG	0.721													False	0	False	11:64410050	0	T	64410050	C	T	64410050	3	4	88	1	0	0	0	0	1	0	0	0	10734	768	27	1	1802	1	NRXN2	11	64410050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35324	64410050	70596466	11816	19528											
NRXN2	9379	broad.mit.edu	37	chr11	64417929	64417929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagccccacctttgagatCgaggtttcgggcgccattgg	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64417929C>T	ENST00000265459.6	-	15	3561	c.3100G>A	c.(3100-3102)Gat>Aat	p.D1034N	NRXN2_ENST00000377551.1_Missense_Mutation_p.D1034N|NRXN2_ENST00000377559.3_Missense_Mutation_p.D994N|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.D1027N	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1034	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTTTGAGATCGAGGTTTCGG	0.632													False	0	False	11:64417929	0	T	64417929	C	T	64417929	3	4	88	1	0	0	0	0	1	0	0	0	10734	884	31	1	2343	1	NRXN2	11	64417929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7879	64417929	70588587	11817	19529											
RASGRP2	10235	broad.mit.edu	37	chr11	64504476	64504476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgccatagttgcctgtcgCcgtcactagttccgtgagac	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64504476C>T	ENST00000377494.1	-	8	1766	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	RASGRP2_ENST00000394432.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000377497.3_Missense_Mutation_p.A282T|RASGRP2_ENST00000354024.3_Missense_Mutation_p.A282T			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	282	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGCCTGTCGCCGTCACTAGT	0.607													False	0	False	11:64504476	0	T	64504476	C	T	64504476	3	4	88	1	0	0	0	0	1	0	0	0	13154	739	26	2	1017	2	RASGRP2	11	64504476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86547	64504476	70502040	11818	19530											
PYGM	5837	broad.mit.edu	37	chr11	64518890	64518890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgaccacatccccgatggCtgtgacgagtctgatgatca	11	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64518890C>A	ENST00000164139.3	-	16	2274	c.1876G>T	c.(1876-1878)Gcc>Tcc	p.A626S	PYGM_ENST00000377432.3_Missense_Mutation_p.A538S|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	626					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TCCCCGATGGCTGTGACGAGT	0.607													False	0	False	11:64518890	0	A	64518890	C	A	64518890	3	1	88	1	0	0	0	0	1	0	0	0	12941	797	28	3	672	3	PYGM	11	64518890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14414	64518890	70487626	11819	19531											
SF1	7536	broad.mit.edu	37	chr11	64536602	64536602	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccagggtcttaagatcCtattaaaggaaaaagaggtc	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64536602C>T	ENST00000377390.3	-	8	1117		c.e8-1		SF1_ENST00000489544.1_Splice_Site|SF1_ENST00000422298.2_Splice_Site|SF1_ENST00000433274.2_Splice_Site|SF1_ENST00000377394.3_Splice_Site|SF1_ENST00000377387.1_Splice_Site|SF1_ENST00000227503.9_Splice_Site|SF1_ENST00000334944.5_Splice_Site	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1						nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TCTTAAGATCCTATTAAAGGA	0.458													False	0	False	11:64536602	0	T	64536602	C	T	64536602	5	4	88	1	0	0	0	0	0	0	1	0	14226	695	24	2	1302	2	SF1	11	64536602	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17712	64536602	70469914	11820	19532											
SF1	7536	broad.mit.edu	37	chr11	64537827	64537827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttgcgggtgcggaactctCgggtgttaagccgcttcccc	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64537827C>T	ENST00000377390.3	-	4	627	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	SF1_ENST00000422298.2_5'UTR|SF1_ENST00000433274.2_Missense_Mutation_p.R71Q|SF1_ENST00000377394.3_Missense_Mutation_p.R97Q|SF1_ENST00000377387.1_Missense_Mutation_p.R222Q|SF1_ENST00000227503.9_Missense_Mutation_p.R97Q|SF1_ENST00000334944.5_Missense_Mutation_p.R97Q	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	97					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCGGAACTCTCGGGTGTTAAG	0.537													False	0	True	11:64537827	0	T	64537827	C	T	64537827	3	4	88	1	0	0	0	0	1	0	0	0	14226	884	31	1	1807	1	SF1	11	64537827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1225	64537827	70468689	11821	19533											
MAP4K2	5871	broad.mit.edu	37	chr11	64563851	64563851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcatgggcccagatgtGcgtggatttccctgcagaaa	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64563851G>A	ENST00000294066.2	-	24	1736	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	MAP4K2_ENST00000377350.3_Missense_Mutation_p.H541Y	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	549	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GCCCAGATGTGCGTGGATTTC	0.647													False	0	False	11:64563851	0	A	64563851	G	A	64563851	3	1	88	1	0	0	0	0	1	0	0	0	9327	1319	46	2	853	2	MAP4K2	11	64563851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26024	64563851	70442665	11822	19534											
MAP4K2	5871	broad.mit.edu	37	chr11	64568445	64568445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatgcccagggcccagaCgtcacatagctcattgtagc	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64568445C>T	ENST00000294066.2	-	9	680	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	MAP4K2_ENST00000377350.3_Missense_Mutation_p.V197I|MAP4K2_ENST00000468062.1_5'UTR	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	197	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGGCCCAGACGTCACATAGC	0.637													False	0	False	11:64568445	0	T	64568445	C	T	64568445	3	4	88	1	0	0	0	0	1	0	0	0	9327	536	19	1	1969	1	MAP4K2	11	64568445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4594	64568445	70438071	11823	19535											
MEN1	0	broad.mit.edu	37	chr11	64572567	64572567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccacatgcagcacaGgcgtgggactgccctcctcc	10	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64572567G>A	ENST00000337652.1	-	9	1807	c.1304C>T	c.(1303-1305)cCt>cTt	p.P435L	MEN1_ENST00000377313.1_Missense_Mutation_p.P435L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377316.2_Intron|MEN1_ENST00000377321.1_Missense_Mutation_p.P395L|MEN1_ENST00000394376.1_Missense_Mutation_p.P435L|MEN1_ENST00000312049.6_Missense_Mutation_p.P430L|MEN1_ENST00000377326.3_Missense_Mutation_p.P430L|MEN1_ENST00000315422.4_Missense_Mutation_p.P430L|MEN1_ENST00000443283.1_Missense_Mutation_p.P435L|MEN1_ENST00000394374.2_Missense_Mutation_p.P435L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	435					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ATGCAGCACAGGCGTGGGACT	0.622			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				False	0	False	11:64572567	0	A	64572567	G	A	64572567	3	1	88	1	0	0	0	0	1	0	0	0	9539	1000	35	2	551	2	MEN1	11	64572567	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4122	64572567	70433949	11824	19536											
MEN1	0	broad.mit.edu	37	chr11	64573758	64573758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggcttcccgcacattgCggttgcgacagtggtagcca	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64573758C>T	ENST00000337652.1	-	7	1513	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	MEN1_ENST00000377313.1_Missense_Mutation_p.R337H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377316.2_Missense_Mutation_p.R332H|MEN1_ENST00000377321.1_Missense_Mutation_p.R297H|MEN1_ENST00000394376.1_Missense_Mutation_p.R337H|MEN1_ENST00000312049.6_Missense_Mutation_p.R332H|MEN1_ENST00000377326.3_Missense_Mutation_p.R332H|MEN1_ENST00000315422.4_Missense_Mutation_p.R332H|MEN1_ENST00000443283.1_Missense_Mutation_p.R337H|MEN1_ENST00000394374.2_Missense_Mutation_p.R337H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	337	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCGCACATTGCGGTTGCGACA	0.602			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	11:64573758	0	T	64573758	C	T	64573758	3	4	88	1	0	0	0	0	1	0	0	0	9539	768	27	1	853	1	MEN1	11	64573758	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1191	64573758	70432758	11825	19537											
MEN1	0	broad.mit.edu	37	chr11	64575388	64575388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacaccggcattgactGtctggcccctgcggtcctcg	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64575388G>A	ENST00000337652.1	-	3	1147	c.644C>T	c.(643-645)aCa>aTa	p.T215I	MEN1_ENST00000377313.1_Missense_Mutation_p.T215I|MEN1_ENST00000377316.2_Missense_Mutation_p.T210I|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000394376.1_Missense_Mutation_p.T215I|MEN1_ENST00000312049.6_Missense_Mutation_p.T210I|MEN1_ENST00000377326.3_Missense_Mutation_p.T210I|MEN1_ENST00000315422.4_Missense_Mutation_p.T210I|MEN1_ENST00000443283.1_Missense_Mutation_p.T215I|MEN1_ENST00000394374.2_Missense_Mutation_p.T215I	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	215					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.T210fs*13(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGCATTGACTGTCTGGCCCCT	0.597			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				False	0	False	11:64575388	0	A	64575388	G	A	64575388	3	1	88	1	0	0	0	0	1	0	0	0	9539	1377	48	2	1235	2	MEN1	11	64575388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1630	64575388	70431128	11826	19538											
CDC42BPG	55561	broad.mit.edu	37	chr11	64594559	64594559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccgggccgcccgttggcaGggcccacgtgtactaggtgg	17	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64594559G>T	ENST00000342711.5	-	34	4351	c.4352C>A	c.(4351-4353)cCt>cAt	p.P1451H		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1451					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCCGTTGGCAGGGCCCACGTG	0.607													False	0	True	11:64594559	0	T	64594559	G	T	64594559	3	4	88	1	0	0	0	0	1	0	0	0	3097	1000	35	3	319	3	CDC42BPG	11	64594559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19171	64594559	70411957	11827	19539											
CDC42BPG	55561	broad.mit.edu	37	chr11	64599088	64599088	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtccagcagcagccgctGcagctcacccagcacctgca	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64599088G>A	ENST00000342711.5	-	28	3192	c.3193C>T	c.(3193-3195)Cag>Tag	p.Q1065*	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1065	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGCAGCCGCTGCAGCTCACCC	0.692											OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	11:64599088	0	A	64599088	G	A	64599088	4	1	88	1	0	0	0	0	0	1	0	0	3097	1328	46	2	1502	2	CDC42BPG	11	64599088	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4529	64599088	70407428	11828	19540											
CDC42BPG	55561	broad.mit.edu	37	chr11	64602876	64602876	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctggcacagagcctcCtccttaccactcggcctggg	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64602876C>A	ENST00000342711.5	-	16	1895	c.1896G>T	c.(1894-1896)gaG>gaT	p.E632D		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	632					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						ACAGAGCCTCCTCCTTACCAC	0.672													False	0	True	11:64602876	0	A	64602876	C	A	64602876	3	1	88	1	0	0	0	0	1	0	0	0	3097	680	24	3	2847	3	CDC42BPG	11	64602876	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3788	64602876	70403640	11829	19541											
CDC42BPG	55561	broad.mit.edu	37	chr11	64606559	64606559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggactcagcatagaagggCgtctccccaaagagcagctc	11	12	2	2	rs56393929		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64606559C>T	ENST00000342711.5	-	7	821	c.822G>A	c.(820-822)acG>acA	p.T274T		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	274	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CATAGAAGGGCGTCTCCCCAA	0.612													False	0	True	11:64606559	0	T	64606559	C	T	64606559	2	4	88	1	0	0	0	0	0	0	0	1	3097	755	27	1		1	CDC42BPG	11	64606559	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3683	64606559	70399957	11830	19542											
CDC42BPG	55561	broad.mit.edu	37	chr11	64607741	64607741	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtagtccatcacaaggtaCtggaggtggcggacaagaat	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64607741C>T	ENST00000342711.5	-	5	432		c.e5-1			NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)						actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCACAAGGTACTGGAGGTGGC	0.657													False	0	False	11:64607741	0	T	64607741	C	T	64607741	5	4	88	1	0	0	0	0	0	0	1	0	3097	579	20	2	4355	2	CDC42BPG	11	64607741	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1182	64607741	70398775	11831	19543											
EHD1	10938	broad.mit.edu	37	chr11	64641903	64641903	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgtttacctctgctgatCcgctgcttctctccagacag	8	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64641903C>T	ENST00000320631.3	-	2	746	c.492G>A	c.(490-492)cgG>cgA	p.R164R	EHD1_ENST00000359393.2_Silent_p.R164R	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	164					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTCTGCTGATCCGCTGCTTCT	0.557													False	0	False	11:64641903	0	T	64641903	C	T	64641903	2	4	88	1	0	0	0	0	0	0	0	1	5007	842	30	2		2	EHD1	11	64641903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34162	64641903	70364613	11832	19544											
ATG2A	23130	broad.mit.edu	37	chr11	64662641	64662641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttctgctcatggccccgcGatgccacgtcacagatggtc	10	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64662641G>A	ENST00000421419.2	-	41	5741	c.5627C>T	c.(5626-5628)tCg>tTg	p.S1876L	ATG2A_ENST00000377264.3_Missense_Mutation_p.S1874L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1874							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATGGCCCCGCGATGCCACGTC	0.677													False	0	False	11:64662641	0	A	64662641	G	A	64662641	3	1	88	1	0	0	0	0	1	0	0	0	1097	1059	37	1	199	1	ATG2A	11	64662641	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20738	64662641	70343875	11833	19545											
ATG2A	23130	broad.mit.edu	37	chr11	64669563	64669563	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagctgccagcagggcccccGacaggtggtgaagggggtgg	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64669563G>A	ENST00000421419.2	-	29	4110	c.3996C>T	c.(3994-3996)gtC>gtT	p.V1332V	ATG2A_ENST00000377264.3_Silent_p.V1330V			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1330							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CAGGGCCCCCGACAGGTGGTG	0.612													False	0	True	11:64669563	0	A	64669563	G	A	64669563	2	1	88	1	0	0	0	0	0	0	0	1	1097	1045	37	1		1	ATG2A	11	64669563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6922	64669563	70336953	11834	19546											
PPP2R5B	5526	broad.mit.edu	37	chr11	64695588	64695588	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagagcccagacttccagccCtccgtggccaagagatatgt	11	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64695588C>A	ENST00000164133.2	+	5	1171	c.549C>A	c.(547-549)ccC>ccA	p.P183P		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	183					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						ACTTCCAGCCCTCCGTGGCCA	0.557													False	0	True	11:64695588	0	A	64695588	C	A	64695588	2	1	88	1	0	0	0	0	0	0	0	1	12467	668	24	3		3	PPP2R5B	11	64695588	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26025	64695588	70310928	11835	19547											
SNX15	29907	broad.mit.edu	37	chr11	64803116	64803116	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggctgagcttgccctcttCgaccccttctccaaggaagg	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64803116C>T	ENST00000377244.3	+	6	775	c.645C>T	c.(643-645)ttC>ttT	p.F215F	SNX15_ENST00000352068.5_Silent_p.F215F|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	215					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TTGCCCTCTTCGACCCCTTCT	0.647													False	0	False	11:64803116	0	T	64803116	C	T	64803116	2	4	88	1	0	0	0	0	0	0	0	1	14966	883	31	1		1	SNX15	11	64803116	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107528	64803116	70203400	11836	19548											
NAALADL1	10004	broad.mit.edu	37	chr11	64825602	64825602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaggacagcagcacttcGtacgtggaggcctcggccga	16	11	0	0	rs144528264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64825602G>A	ENST00000358658.3	-	2	333	c.306C>T	c.(304-306)taC>taT	p.Y102Y	NAALADL1_ENST00000355369.2_Silent_p.Y102Y|NAALADL1_ENST00000339885.2_Silent_p.Y102Y|NAALADL1_ENST00000340252.4_Silent_p.Y102Y|NAALADL1_ENST00000356632.3_Silent_p.Y102Y|NAALADL1_ENST00000355721.3_Silent_p.Y102Y	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	102					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCAGCACTTCGTACGTGGAGG	0.667													False	0	False	11:64825602	0	A	64825602	G	A	64825602	2	1	88	1	0	0	0	0	0	0	0	1	10196	1140	40	1		1	NAALADL1	11	64825602	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22486	64825602	70180914	11837	19549											
CDCA5	113130	broad.mit.edu	37	chr11	64846905	64846905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagagtcatgtctggggCccagggctttgcacaaaccc	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64846905C>T	ENST00000275517.3	-	5	770	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CDCA5_ENST00000404147.3_Missense_Mutation_p.A200T	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	200					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ATGTCTGGGGCCCAGGGCTTT	0.577													False	0	True	11:64846905	0	T	64846905	C	T	64846905	3	4	88	1	0	0	0	0	1	0	0	0	3112	739	26	2	168	2	CDCA5	11	64846905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21303	64846905	70159611	11838	19550											
CDCA5	113130	broad.mit.edu	37	chr11	64847051	64847051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtagaggcagagcccaggGtctccagccggctgtaggaa	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64847051G>A	ENST00000275517.3	-	5	624	c.452C>T	c.(451-453)aCc>aTc	p.T151I	CDCA5_ENST00000404147.3_Missense_Mutation_p.T151I	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	151					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGAGCCCAGGGTCTCCAGCCG	0.632													False	0	True	11:64847051	0	A	64847051	G	A	64847051	3	1	88	1	0	0	0	0	1	0	0	0	3112	1261	44	2	314	2	CDCA5	11	64847051	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	64847051	70159465	11839	19551											
ZFPL1	7542	broad.mit.edu	37	chr11	64855532	64855532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgggccgcagctgacagCgatcccaacctggacccact	12	17	0	1	rs143603280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64855532C>T	ENST00000294258.3	+	8	1031	c.879C>T	c.(877-879)agC>agT	p.S293S		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	293					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CAGCTGACAGCGATCCCAACC	0.667													False	0	False	11:64855532	0	T	64855532	C	T	64855532	2	4	88	1	0	0	0	0	0	0	0	1	17739	767	27	1		1	ZFPL1	11	64855532	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8481	64855532	70150984	11840	19552											
ZNHIT2	741	broad.mit.edu	37	chr11	64884293	64884293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgtgcccaggggccccGgcgggtgctcgcctgcttcc	15	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64884293G>A	ENST00000310597.4	-	1	877	c.833C>T	c.(832-834)cCg>cTg	p.P278L		NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	278							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CAGGGGCCCCGGCGGGTGCTC	0.706													False	0	True	11:64884293	0	A	64884293	G	A	64884293	3	1	88	1	0	0	0	0	1	0	0	0	18289	1116	39	1	382	1	ZNHIT2	11	64884293	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28761	64884293	70122223	11841	19553											
FAU	2197	broad.mit.edu	37	chr11	64889267	64889267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtgtgtagctcctgggCgcggacaaagagctgcatat	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64889267C>T	ENST00000529259.1	-	1	120	c.19G>A	c.(19-21)Gcc>Acc	p.A7T	FAU_ENST00000279259.3_Missense_Mutation_p.A7T|FAU_ENST00000525297.1_Missense_Mutation_p.A7T|FAU_ENST00000531743.1_Missense_Mutation_p.A7T|FAU_ENST00000434372.2_Missense_Mutation_p.A7T|FAU_ENST00000527548.1_Missense_Mutation_p.A7T|FAU_ENST00000529639.1_Missense_Mutation_p.A7T			P35544	UBIM_HUMAN	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed	7										NS(3)|kidney(1)|large_intestine(2)	6						AGCTCCTGGGCGCGGACAAAG	0.527													False	0	True	11:64889267	0	T	64889267	C	T	64889267	3	4	88	1	0	0	0	0	1	0	0	0	5734	768	27	1	398	1	FAU	11	64889267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4974	64889267	70117249	11842	19554											
SYVN1	84447	broad.mit.edu	37	chr11	64895881	64895881	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaacaggagactccagcttCtgcaggcggcgccggcggag	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64895881C>T	ENST00000526060.1	-	16	2016	c.1824G>A	c.(1822-1824)caG>caA	p.Q608Q	SYVN1_ENST00000307289.6_Silent_p.Q557Q|SYVN1_ENST00000377190.3_Silent_p.Q609Q|SYVN1_ENST00000294256.8_Silent_p.Q608Q			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	609					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTCCAGCTTCTGCAGGCGGC	0.637													False	0	False	11:64895881	0	T	64895881	C	T	64895881	2	4	88	1	0	0	0	0	0	0	0	1	15569	912	32	2		2	SYVN1	11	64895881	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6614	64895881	70110635	11843	19555											
SYVN1	84447	broad.mit.edu	37	chr11	64896065	64896065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccatttcaggggctggtgGggaggctcctggggttgggg	20	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64896065G>T	ENST00000526060.1	-	15	1906	c.1714C>A	c.(1714-1716)Cca>Aca	p.P572T	SYVN1_ENST00000307289.6_Missense_Mutation_p.P521T|SYVN1_ENST00000377190.3_Missense_Mutation_p.P573T|SYVN1_ENST00000294256.8_Missense_Mutation_p.P572T			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	573					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGGGCTGGTGGGGAGGCTCCT	0.602													False	0	True	11:64896065	0	T	64896065	G	T	64896065	3	4	88	1	0	0	0	0	1	0	0	0	15569	1232	43	3	144	3	SYVN1	11	64896065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184	64896065	70110451	11844	19556											
CAPN1	823	broad.mit.edu	37	chr11	64972252	64972252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctgcagcttcgtgctcGcccttatgcagaagcaccgt	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64972252G>A	ENST00000527323.1	+	10	1504	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	CAPN1_ENST00000533820.1_Missense_Mutation_p.A422T|CAPN1_ENST00000524773.1_Missense_Mutation_p.A422T|CAPN1_ENST00000279247.6_Missense_Mutation_p.A422T|CAPN1_ENST00000533129.1_Missense_Mutation_p.A422T			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	422	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CTTCGTGCTCGCCCTTATGCA	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:64972252	0	A	64972252	G	A	64972252	3	1	88	1	0	0	0	0	1	0	0	0	2642	1087	38	1	1302	1	CAPN1	11	64972252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76187	64972252	70034264	11845	19557											
SLC22A20	0	broad.mit.edu	37	chr11	64981653	64981653	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactcctccatcccgggcGcggccacggagggctgcaag	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64981653G>A	ENST00000525437.1	+	0	343							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CATCCCGGGCGCGGCCACGGA	0.682													False	0	False	11:64981653	0	A	64981653	G	A	64981653	1	1	88	0	1	0	0	0	0	0	0	0	14532	1087	38	1		1	SLC22A20	11	64981653	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9401	64981653	70024863	11846	19558											
POLA2	23649	broad.mit.edu	37	chr11	65063055	65063055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccgaatactcaagcacaTcttgacccagaggaggtgag	11	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65063055T>C	ENST00000265465.3	+	16	2036	c.1505T>C	c.(1504-1506)aTc>aCc	p.I502T	POLA2_ENST00000541089.1_Missense_Mutation_p.I294T|POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	502					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTCAAGCACATCTTGACCCAG	0.488													False	0	False	11:65063055	0	C	65063055	T	C	65063055	3	2	88	1	0	0	0	0	1	0	0	0	12257	1435	50	4	1567	4	POLA2	11	65063055	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81402	65063055	69943461	11847	19559											
CDC42EP2	10435	broad.mit.edu	37	chr11	65088649	65088649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgccaccgtgtgtgggCgggagctcccggacggccca	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65088649C>T	ENST00000544348.1	+	2	886	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CDC42EP2_ENST00000279249.2_Missense_Mutation_p.R94W|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.R94W			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	94					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						CGTGTGTGGGCGGGAGCTCCC	0.672													False	0	True	11:65088649	0	T	65088649	C	T	65088649	3	4	88	1	0	0	0	0	1	0	0	0	3099	759	27	1	282	1	CDC42EP2	11	65088649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25594	65088649	69917867	11848	19560											
DPF2	5977	broad.mit.edu	37	chr11	65113213	65113213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttggctgaggaggagggCgaggacaaggaagactctca	16	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113213C>T	ENST00000528416.1	+	7	847	c.714C>T	c.(712-714)ggC>ggT	p.G238G	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Silent_p.G252G	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	238					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AGGAGGAGGGCGAGGACAAGG	0.527													False	0	True	11:65113213	0	T	65113213	C	T	65113213	2	4	88	1	0	0	0	0	0	0	0	1	4747	755	27	1		1	DPF2	11	65113213	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24564	65113213	69893303	11849	19561											
DPF2	5977	broad.mit.edu	37	chr11	65113742	65113742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcttgcctccaatttaCccccgtgatgatggcggcag	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113742C>T	ENST00000528416.1	+	9	1062	c.929C>T	c.(928-930)aCc>aTc	p.T310I	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.T324I	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	310					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTCCAATTTACCCCCGTGATG	0.557													False	0	True	11:65113742	0	T	65113742	C	T	65113742	3	4	88	1	0	0	0	0	1	0	0	0	4747	507	18	2	963	2	DPF2	11	65113742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	529	65113742	69892774	11850	19562											
DPF2	5977	broad.mit.edu	37	chr11	65113775	65113775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcagtgaagacataccGctggcagtgcatcgagtgca	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113775G>A	ENST00000528416.1	+	9	1095	c.962G>A	c.(961-963)cGc>cAc	p.R321H	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.R335H	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	321					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AAGACATACCGCTGGCAGTGC	0.562													False	0	False	11:65113775	0	A	65113775	G	A	65113775	3	1	88	1	0	0	0	0	1	0	0	0	4747	1087	38	1	996	1	DPF2	11	65113775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	65113775	69892741	11851	19563											
TIGD3	220359	broad.mit.edu	37	chr11	65124610	65124611	+	Frame_Shift_Del	DEL	GG	GG	-													cctgggcaccttgaggaggtGgtttgaatgcaacagcactt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65124610_65124611delGG	ENST00000309880.5	+	2	1538_1539	c.1331_1332delGG	c.(1330-1332)tggfs	p.W444fs		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	444					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TTGAGGAGGTGGTTTGAATGCA	0.569													False	2	True	11:65124610	0	-	65124611	GG	-	65124610	7	5	88	1	0	1	0	1	0	0	0	0	15979	1357	47	0	1333	0	TIGD3	11	65124610	Frame_Shift_Del	DEL	GG	TCGA-IB-7651-01A-11D-2154-08	10835	65124610	69881906	11852	19564											
SLC25A45	283130	broad.mit.edu	37	chr11	65144076	65144076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatccgggacttgatcatGtctaagggcgtggctgccac	13	11	2	1	rs17857132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65144076G>A	ENST00000417511.2	-	10	1677	c.543C>T	c.(541-543)gaC>gaT	p.D181D	SLC25A45_ENST00000360662.3_Silent_p.D199D|SLC25A45_ENST00000534028.1_Silent_p.D199D|SLC25A45_ENST00000294187.6_Silent_p.D181D|SLC25A45_ENST00000377152.2_Silent_p.D119D|SLC25A45_ENST00000398802.1_Silent_p.D223D|SLC25A45_ENST00000526432.1_Silent_p.D161D|SLC25A45_ENST00000527174.1_Silent_p.D223D	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	223					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						ACTTGATCATGTCTAAGGGCG	0.627													False	0	False	11:65144076	0	A	65144076	G	A	65144076	2	1	88	1	0	0	0	0	0	0	0	1	14590	1368	48	2		2	SLC25A45	11	65144076	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19466	65144076	69862440	11853	19565											
FRMD8	83786	broad.mit.edu	37	chr11	65156957	65156957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcagcttccagacatcGccctggatgtcttcgcgctc	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65156957G>A	ENST00000317568.5	+	3	374	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	FRMD8_ENST00000416776.2_Missense_Mutation_p.A71T|FRMD8_ENST00000355991.5_Intron	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	71	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						TCCAGACATCGCCCTGGATGT	0.647													False	0	True	11:65156957	0	A	65156957	G	A	65156957	3	1	88	1	0	0	0	0	1	0	0	0	6098	1087	38	1	217	1	FRMD8	11	65156957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12881	65156957	69849559	11854	19566											
FRMD8	83786	broad.mit.edu	37	chr11	65172384	65172384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatcgaactgagccaggCggcggagcccgcaggccccc	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65172384C>T	ENST00000317568.5	+	10	1284	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	FRMD8_ENST00000416776.2_Missense_Mutation_p.A340V|FRMD8_ENST00000355991.5_Missense_Mutation_p.A318V	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	374	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CTGAGCCAGGCGGCGGAGCCC	0.687													False	0	False	11:65172384	0	T	65172384	C	T	65172384	3	4	88	1	0	0	0	0	1	0	0	0	6098	768	27	1	1155	1	FRMD8	11	65172384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15427	65172384	69834132	11855	19567											
SCYL1	57410	broad.mit.edu	37	chr11	65300199	65300199	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtaccttgacgagccaacaGtcaacacccagatcttcccc	6	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65300199G>T	ENST00000524944.1	+	9	1186	c.1153G>T	c.(1153-1155)Gtc>Ttc	p.V385F	SCYL1_ENST00000525364.1_Missense_Mutation_p.V385F|SCYL1_ENST00000420247.2_Missense_Mutation_p.V385F|SCYL1_ENST00000279270.6_Missense_Mutation_p.V385F|SCYL1_ENST00000527009.1_Missense_Mutation_p.V242F|SCYL1_ENST00000270176.5_Missense_Mutation_p.V385F|SCYL1_ENST00000533862.1_Missense_Mutation_p.V385F			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	385					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CGAGCCAACAGTCAACACCCA	0.592													False	0	False	11:65300199	0	T	65300199	G	T	65300199	3	4	88	1	0	0	0	0	1	0	0	0	14028	1029	36	3	1187	3	SCYL1	11	65300199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127815	65300199	69706317	11856	19568											
SCYL1	57410	broad.mit.edu	37	chr11	65302805	65302805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacagggccccatccgctgCaacaccacagtctgcctggg	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65302805C>T	ENST00000524944.1	+	10	1371	c.1338C>T	c.(1336-1338)tgC>tgT	p.C446C	SCYL1_ENST00000525364.1_Silent_p.C446C|SCYL1_ENST00000420247.2_Silent_p.C446C|SCYL1_ENST00000279270.6_Silent_p.C446C|SCYL1_ENST00000527009.1_Silent_p.C303C|SCYL1_ENST00000270176.5_Silent_p.C446C|SCYL1_ENST00000533862.1_Silent_p.C446C			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	446					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CCATCCGCTGCAACACCACAG	0.602													False	0	False	11:65302805	0	T	65302805	C	T	65302805	2	4	88	1	0	0	0	0	0	0	0	1	14028	718	25	2		2	SCYL1	11	65302805	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2606	65302805	69703711	11857	19569											
SCYL1	57410	broad.mit.edu	37	chr11	65304578	65304578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctgacagatgggacgaCgaagactggggcagcctgga	16	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65304578C>T	ENST00000524944.1	+	14	1971	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	SCYL1_ENST00000525364.1_Silent_p.D646D|SCYL1_ENST00000420247.2_Silent_p.D629D|SCYL1_ENST00000279270.6_Silent_p.D646D|SCYL1_ENST00000527009.1_Silent_p.D503D|SCYL1_ENST00000270176.5_Silent_p.D646D|SCYL1_ENST00000533862.1_Silent_p.D646D			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	646					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GATGGGACGACGAAGACTGGG	0.642													False	0	False	11:65304578	0	T	65304578	C	T	65304578	2	4	88	1	0	0	0	0	0	0	0	1	14028	535	19	1		1	SCYL1	11	65304578	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1773	65304578	69701938	11858	19570											
LTBP3	4054	broad.mit.edu	37	chr11	65308385	65308385	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgacgatgttgttgtcctgGgtgtagccctttccgtctgg	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65308385G>T	ENST00000301873.5	-	21	3202	c.2934C>A	c.(2932-2934)acC>acA	p.T978T	LTBP3_ENST00000536982.1_Silent_p.T604T|LTBP3_ENST00000322147.4_Silent_p.T978T|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Silent_p.T408T|LTBP3_ENST00000529189.1_5'UTR	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	978						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGTTGTCCTGGGTGTAGCCCT	0.706											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:65308385	0	T	65308385	G	T	65308385	2	4	88	1	0	0	0	0	0	0	0	1	9137	1219	43	3		3	LTBP3	11	65308385	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3807	65308385	69698131	11859	19571											
PCNXL3	399909	broad.mit.edu	37	chr11	65392409	65392409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacagctgccaccagcccGctcacggcagtcttcagcct	8	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65392409G>A	ENST00000355703.3	+	16	3380	c.2841G>A	c.(2839-2841)ccG>ccA	p.P947P		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	947						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCACCAGCCCGCTCACGGCAG	0.642													False	0	True	11:65392409	0	A	65392409	G	A	65392409	2	1	88	1	0	0	0	0	0	0	0	1	11661	1074	38	1		1	PCNXL3	11	65392409	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84024	65392409	69614107	11860	19572											
PCNXL3	399909	broad.mit.edu	37	chr11	65394998	65394998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccactttgactacccgcGcctctcccagggctttctgc	7	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65394998G>A	ENST00000355703.3	+	22	4186	c.3647G>A	c.(3646-3648)cGc>cAc	p.R1216H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1216						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GACTACCCGCGCCTCTCCCAG	0.612													False	0	False	11:65394998	0	A	65394998	G	A	65394998	3	1	88	1	0	0	0	0	1	0	0	0	11661	1087	38	1	3733	1	PCNXL3	11	65394998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2589	65394998	69611518	11861	19573											
SIPA1	6494	broad.mit.edu	37	chr11	65408725	65408725	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgccttcccaccagtgctTgagcctcgatggtttgccca	9	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408725T>C	ENST00000394224.3	+	2	629	c.333T>C	c.(331-333)ctT>ctC	p.L111L	SIPA1_ENST00000534313.1_Silent_p.L111L|SIPA1_ENST00000394227.3_Silent_p.L111L|SIPA1_ENST00000527525.1_Silent_p.L111L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	111					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CACCAGTGCTTGAGCCTCGAT	0.632													False	0	False	11:65408725	0	C	65408725	T	C	65408725	2	2	88	1	0	0	0	0	0	0	0	1	14409	1799	63	4		4	SIPA1	11	65408725	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13727	65408725	69597791	11862	19574											
SIPA1	6494	broad.mit.edu	37	chr11	65408899	65408899	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggctttgtgtgtgagctCgggggtgagggtgagctagg	20	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408899C>T	ENST00000394224.3	+	2	803	c.507C>T	c.(505-507)ctC>ctT	p.L169L	SIPA1_ENST00000534313.1_Silent_p.L169L|SIPA1_ENST00000394227.3_Silent_p.L169L|SIPA1_ENST00000527525.1_Silent_p.L169L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	169					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGTGTGAGCTCGGGGGTGAGG	0.677													False	0	True	11:65408899	0	T	65408899	C	T	65408899	2	4	88	1	0	0	0	0	0	0	0	1	14409	871	31	1		1	SIPA1	11	65408899	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174	65408899	69597617	11863	19575											
SIPA1	6494	broad.mit.edu	37	chr11	65408934	65408934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctaggcctgggtggaccagCatccccacctgtgccccctg	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408934C>T	ENST00000394224.3	+	2	838	c.542C>T	c.(541-543)gCa>gTa	p.A181V	SIPA1_ENST00000534313.1_Missense_Mutation_p.A181V|SIPA1_ENST00000394227.3_Missense_Mutation_p.A181V|SIPA1_ENST00000527525.1_Missense_Mutation_p.A181V	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	181					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GGTGGACCAGCATCCCCACCT	0.672													False	0	False	11:65408934	0	T	65408934	C	T	65408934	3	4	88	1	0	0	0	0	1	0	0	0	14409	710	25	2	544	2	SIPA1	11	65408934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	65408934	69597582	11864	19576											
SIPA1	6494	broad.mit.edu	37	chr11	65408968	65408968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgcactgcccaacgcGgccgtgtccatcctggagga	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408968G>A	ENST00000394224.3	+	2	872	c.576G>A	c.(574-576)gcG>gcA	p.A192A	SIPA1_ENST00000534313.1_Silent_p.A192A|SIPA1_ENST00000394227.3_Silent_p.A192A|SIPA1_ENST00000527525.1_Silent_p.A192A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	192					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGCCCAACGCGGCCGTGTCCA	0.637													False	0	False	11:65408968	0	A	65408968	G	A	65408968	2	1	88	1	0	0	0	0	0	0	0	1	14409	1103	39	1		1	SIPA1	11	65408968	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	65408968	69597548	11865	19577											
SIPA1	6494	broad.mit.edu	37	chr11	65416876	65416876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctgcaagatggtggcaGtcctccagggcctggggatc	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65416876G>T	ENST00000394224.3	+	10	2746	c.2450G>T	c.(2449-2451)aGt>aTt	p.S817I	SIPA1_ENST00000534313.1_Missense_Mutation_p.S817I|SIPA1_ENST00000394227.3_Missense_Mutation_p.S715I|SIPA1_ENST00000527525.1_Missense_Mutation_p.S715I	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	817					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GATGGTGGCAGTCCTCCAGGG	0.652													False	0	False	11:65416876	0	T	65416876	G	T	65416876	3	4	88	1	0	0	0	0	1	0	0	0	14409	1029	36	3	2484	3	SIPA1	11	65416876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7908	65416876	69589640	11866	19578											
SIPA1	6494	broad.mit.edu	37	chr11	65416912	65416912	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatctggccgaggagaggaCtgagttcctgcacagccaga	15	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65416912C>A	ENST00000394224.3	+	10	2782	c.2486C>A	c.(2485-2487)aCt>aAt	p.T829N	SIPA1_ENST00000534313.1_Missense_Mutation_p.T829N|SIPA1_ENST00000394227.3_Missense_Mutation_p.T727N|SIPA1_ENST00000527525.1_Missense_Mutation_p.T727N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	829					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GAGGAGAGGACTGAGTTCCTG	0.632													False	0	False	11:65416912	0	A	65416912	C	A	65416912	3	1	88	1	0	0	0	0	1	0	0	0	14409	565	20	3	2520	3	SIPA1	11	65416912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36	65416912	69589604	11867	19579											
RELA	5970	broad.mit.edu	37	chr11	65423197	65423197	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagctgcgggaaggcacaGcaatgcgtcgaggtggaggc	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65423197G>T	ENST00000525693.1	-	10	1057	c.995C>A	c.(994-996)gCt>gAt	p.A332D	RELA_ENST00000406246.3_Missense_Mutation_p.A332D|RELA_ENST00000308639.9_Missense_Mutation_p.A329D			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	332					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGAAGGCACAGCAATGCGTCG	0.622													False	0	False	11:65423197	0	T	65423197	G	T	65423197	3	4	88	1	0	0	0	0	1	0	0	0	13295	971	34	3	668	3	RELA	11	65423197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6285	65423197	69583319	11868	19580											
KAT5	10524	broad.mit.edu	37	chr11	65481297	65481297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaggacggaagcgaaaatCgaattgtttgggcactgatg	14	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65481297C>T	ENST00000341318.4	+	6	902	c.668C>T	c.(667-669)tCg>tTg	p.S223L	KAT5_ENST00000530446.1_Missense_Mutation_p.S171L|KAT5_ENST00000352980.4_Missense_Mutation_p.S138L|KAT5_ENST00000377046.3_Missense_Mutation_p.S190L|KAT5_ENST00000534650.1_5'UTR	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	190					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AAGCGAAAATCGAATTGTTTG	0.542													False	0	False	11:65481297	0	T	65481297	C	T	65481297	3	4	88	1	0	0	0	0	1	0	0	0	8033	893	31	1	690	1	KAT5	11	65481297	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58100	65481297	69525219	11869	19581											
OVOL1	5017	broad.mit.edu	37	chr11	65562523	65562523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctccccacaggcgtgcGgccctacaagtgcagcctgt	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65562523G>A	ENST00000335987.3	+	4	867	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	OVOL1_ENST00000532448.1_Missense_Mutation_p.R110Q	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	172					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		ACAGGCGTGCGGCCCTACAAG	0.607													False	0	False	11:65562523	0	A	65562523	G	A	65562523	3	1	88	1	0	0	0	0	1	0	0	0	11394	1116	39	1	529	1	OVOL1	11	65562523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81226	65562523	69443993	11870	19582											
SNX32	254122	broad.mit.edu	37	chr11	65620368	65620368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggacttcaagtcccgccGggtctcctcttttcgaaaga	9	13	3	1	rs138424932	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65620368G>A	ENST00000308342.6	+	12	1522	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	366					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AAGTCCCGCCGGGTCTCCTCT	0.637													False	0	True	11:65620368	0	A	65620368	G	A	65620368	3	1	88	1	0	0	0	0	1	0	0	0	14982	1116	39	1	1143	1	SNX32	11	65620368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57845	65620368	69386148	11871	19583											
MUS81	80198	broad.mit.edu	37	chr11	65630597	65630597	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggccgagtcagaaggcctgAgcttgctgaatgtgggcatc	15	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65630597A>C	ENST00000308110.4	+	7	1016	c.667A>C	c.(667-669)Agc>Cgc	p.S223R	MUS81_ENST00000533035.1_Missense_Mutation_p.S148R	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	223	Interaction with BLM.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		AGAAGGCCTGAGCTTGCTGAA	0.622								Homologous recombination					False	0	False	11:65630597	0	C	65630597	A	C	65630597	3	2	88	1	0	0	0	0	1	0	0	0	10055	304	11	4	693	4	MUS81	11	65630597	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10229	65630597	69375919	11872	19584											
MUS81	80198	broad.mit.edu	37	chr11	65631319	65631319	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacattgtggagcgcaagCgactggatgacctttgcagc	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65631319C>T	ENST00000308110.4	+	10	1355	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	MUS81_ENST00000533035.1_Nonsense_Mutation_p.R261*	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	336	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGAGCGCAAGCGACTGGATGA	0.607								Homologous recombination					False	0	False	11:65631319	0	T	65631319	C	T	65631319	4	4	88	1	0	0	0	0	0	1	0	0	10055	760	27	1	1044	1	MUS81	11	65631319	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	722	65631319	69375197	11873	19585											
MUS81	80198	broad.mit.edu	37	chr11	65632028	65632028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggaagagcatggttccGtccacaacctcagccttcct	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65632028G>A	ENST00000308110.4	+	11	1469	c.1120G>A	c.(1120-1122)Gtc>Atc	p.V374I	MUS81_ENST00000533035.1_Missense_Mutation_p.V299I	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	374					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GCATGGTTCCGTCCACAACCT	0.637								Homologous recombination					False	0	False	11:65632028	0	A	65632028	G	A	65632028	3	1	88	1	0	0	0	0	1	0	0	0	10055	1145	40	1	1162	1	MUS81	11	65632028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	709	65632028	69374488	11874	19586											
EFEMP2	30008	broad.mit.edu	37	chr11	65637409	65637409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccataggagttgaagcagcGctgctcgcatggggccccca	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65637409G>A	ENST00000307998.6	-	7	876	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	EFEMP2_ENST00000528176.1_Missense_Mutation_p.R216C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	216	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TTGAAGCAGCGCTGCTCGCAT	0.607													False	0	False	11:65637409	0	A	65637409	G	A	65637409	3	1	88	1	0	0	0	0	1	0	0	0	4972	1087	38	1	705	1	EFEMP2	11	65637409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5381	65637409	69369107	11875	19587											
BANF1	8815	broad.mit.edu	37	chr11	65770776	65770776	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagcccatgggggagaagCcagtggggagcctggctggg	20	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65770776C>A	ENST00000312175.2	+	2	563	c.55C>A	c.(55-57)Cca>Aca	p.P19T	BANF1_ENST00000527348.1_Missense_Mutation_p.P19T|BANF1_ENST00000445560.2_Missense_Mutation_p.P19T|BANF1_ENST00000533166.1_Missense_Mutation_p.P19T|BANF1_ENST00000524628.1_Intron	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN	barrier to autointegration factor 1	19					initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding			large_intestine(2)|prostate(1)	3						GGGGGAGAAGCCAGTGGGGAG	0.542													False	0	False	11:65770776	0	A	65770776	C	A	65770776	3	1	88	1	0	0	0	0	1	0	0	0	1311	739	26	3	57	3	BANF1	11	65770776	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133367	65770776	69235740	11876	19588											
CATSPER1	117144	broad.mit.edu	37	chr11	65784598	65784598	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttctgctgctcctgcTccacgcttgccaccagctgc	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65784598T>G	ENST00000312106.5	-	11	2386	c.2249A>C	c.(2248-2250)gAg>gCg	p.E750A		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	750					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTGCTCCTGCTCCACGCTTGC	0.652													False	0	True	11:65784598	0	G	65784598	T	G	65784598	3	3	88	1	0	0	0	0	1	0	0	0	2707	1551	54	4	101	4	CATSPER1	11	65784598	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13822	65784598	69221918	11877	19589											
CATSPER1	117144	broad.mit.edu	37	chr11	65789270	65789270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcaaagaagtacgagaGgcccagggcgatgatcttga	14	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65789270G>T	ENST00000312106.5	-	3	1647	c.1510C>A	c.(1510-1512)Ctc>Atc	p.L504I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	504					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.L504I(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AAGTACGAGAGGCCCAGGGCG	0.577													False	0	False	11:65789270	0	T	65789270	G	T	65789270	3	4	88	1	0	0	0	0	1	0	0	0	2707	1000	35	3	872	3	CATSPER1	11	65789270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4672	65789270	69217246	11878	19590											
CATSPER1	117144	broad.mit.edu	37	chr11	65790401	65790401	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aacgaagaagatgaaagtttCaaaggccaaggattgggtca	12	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65790401C>T	ENST00000312106.5	-	2	1485	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	450					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATGAAAGTTTCAAAGGCCAAG	0.537											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:65790401	0	T	65790401	C	T	65790401	3	4	88	1	0	0	0	0	1	0	0	0	2707	835	29	2	1038	2	CATSPER1	11	65790401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1131	65790401	69216115	11879	19591											
CATSPER1	117144	broad.mit.edu	37	chr11	65792817	65792817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataggggaagactcctgtaCgagaagcagcagggccgggg	18	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65792817C>T	ENST00000312106.5	-	1	1171	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	345					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GACTCCTGTACGAGAAGCAGC	0.597													False	0	False	11:65792817	0	T	65792817	C	T	65792817	3	4	88	1	0	0	0	0	1	0	0	0	2707	536	19	1	1356	1	CATSPER1	11	65792817	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2416	65792817	69213699	11880	19592											
CATSPER1	117144	broad.mit.edu	37	chr11	65793057	65793057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcaccttggtggtactcgCtgtgatagtcagatatccca	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793057C>T	ENST00000312106.5	-	1	931	c.794G>A	c.(793-795)aGc>aAc	p.S265N		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	265	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						gtggtactcgctgtgatagtC	0.577													False	0	False	11:65793057	0	T	65793057	C	T	65793057	3	4	88	1	0	0	0	0	1	0	0	0	2707	797	28	2	1596	2	CATSPER1	11	65793057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240	65793057	69213459	11881	19593											
CATSPER1	117144	broad.mit.edu	37	chr11	65793392	65793392	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gataaattctcaccgagataTtggggtctgccatggtgaga	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793392T>G	ENST00000312106.5	-	1	596	c.459A>C	c.(457-459)caA>caC	p.Q153H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	153	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CACCGAGATATTGGGGTCTGC	0.567													False	0	False	11:65793392	0	G	65793392	T	G	65793392	3	3	88	1	0	0	0	0	1	0	0	0	2707	1490	52	4	1931	4	CATSPER1	11	65793392	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	335	65793392	69213124	11882	19594											
CATSPER1	117144	broad.mit.edu	37	chr11	65793568	65793568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggagccagaccaaagcCtgtggggccatgggctctgc	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793568C>T	ENST00000312106.5	-	1	420	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	95	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGACCAAAGCCTGTGGGGCCA	0.602													False	0	False	11:65793568	0	T	65793568	C	T	65793568	3	4	88	1	0	0	0	0	1	0	0	0	2707	681	24	2	2107	2	CATSPER1	11	65793568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176	65793568	69212948	11883	19595											
GAL3ST3	89792	broad.mit.edu	37	chr11	65811009	65811009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaccgtcaggttgtggcGctcggcaaagcgaaacagga	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65811009G>A	ENST00000312006.4	-	3	546	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R89C	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	89					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGGTTGTGGCGCTCGGCAAAG	0.662													False	0	False	11:65811009	0	A	65811009	G	A	65811009	3	1	88	1	0	0	0	0	1	0	0	0	6242	1087	38	1	1034	1	GAL3ST3	11	65811009	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17441	65811009	69195507	11884	19596											
SF3B2	10992	broad.mit.edu	37	chr11	65829183	65829183	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagttcgagacacgactgaaGgagaagaagccaggagatct	14	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65829183G>T	ENST00000528302.1	+	14	1809	c.1755G>T	c.(1753-1755)aaG>aaT	p.K585N	SF3B2_ENST00000322535.6_Missense_Mutation_p.K602N			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	602					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CACGACTGAAGGAGAAGAAGC	0.517													False	0	False	11:65829183	0	T	65829183	G	T	65829183	3	4	88	1	0	0	0	0	1	0	0	0	14232	991	35	3	1864	3	SF3B2	11	65829183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18174	65829183	69177333	11885	19597											
PACS1	55690	broad.mit.edu	37	chr11	65988131	65988131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctggagcatgtgtcccgCgagcagatccgggaagtgga	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65988131C>T	ENST00000320580.4	+	9	1101	c.1068C>T	c.(1066-1068)cgC>cgT	p.R356R		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	356					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ATGTGTCCCGCGAGCAGATCC	0.507													False	0	False	11:65988131	0	T	65988131	C	T	65988131	2	4	88	1	0	0	0	0	0	0	0	1	11440	755	27	1		1	PACS1	11	65988131	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158948	65988131	69018385	11886	19598											
KLC2	64837	broad.mit.edu	37	chr11	66033168	66033168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcttgggggccctataCcggcgccagggcaagctgga	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66033168C>T	ENST00000394065.2	+	10	1978	c.960C>T	c.(958-960)taC>taT	p.Y320Y	KLC2_ENST00000394066.2_Silent_p.Y382Y|KLC2_ENST00000417856.1_Silent_p.Y459Y|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000421552.1_Silent_p.Y382Y|KLC2_ENST00000316924.5_Silent_p.Y459Y|KLC2_ENST00000394067.2_Silent_p.Y459Y			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	459					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGGCCCTATACCGGCGCCAGG	0.652													False	0	False	11:66033168	0	T	66033168	C	T	66033168	2	4	88	1	0	0	0	0	0	0	0	1	8384	518	18	2		2	KLC2	11	66033168	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45037	66033168	68973348	11887	19599											
RAB1B	81876	broad.mit.edu	37	chr11	66043577	66043577	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaagaatgccaccaatgtCgagcaggcgttcatgaccat	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66043577C>T	ENST00000311481.6	+	6	621	c.474C>T	c.(472-474)gtC>gtT	p.V158V	RAB1B_ENST00000527397.1_Silent_p.V126V|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	158					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CCACCAATGTCGAGCAGGCGT	0.582													False	0	False	11:66043577	0	T	66043577	C	T	66043577	2	4	88	1	0	0	0	0	0	0	0	1	12985	871	31	1		1	RAB1B	11	66043577	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10409	66043577	68962939	11888	19600											
RAB1B	81876	broad.mit.edu	37	chr11	66043694	66043694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccctgtaaagccggctggCggtggctgttgctaggaggg	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66043694C>T	ENST00000311481.6	+	6	738	c.591C>T	c.(589-591)ggC>ggT	p.G197G	RAB1B_ENST00000527397.1_Silent_p.G165G|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	197					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						AGCCGGCTGGCGGTGGCTGTT	0.632													False	0	False	11:66043694	0	T	66043694	C	T	66043694	2	4	88	1	0	0	0	0	0	0	0	1	12985	755	27	1		1	RAB1B	11	66043694	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117	66043694	68962822	11889	19601											
YIF1A	10897	broad.mit.edu	37	chr11	66052203	66052203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagacgctgccgggggaCggggccccccatgctgtcgg	18	14	0	1	rs144345497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66052203C>T	ENST00000376901.4	-	8	971	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	CNIH2_ENST00000530519.1_Intron|YIF1A_ENST00000526497.1_5'UTR|YIF1A_ENST00000471387.2_Silent_p.P149P|YIF1A_ENST00000359461.6_Missense_Mutation_p.V211I|YIF1A_ENST00000496746.1_Missense_Mutation_p.V49I	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	263					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						TGCCGGGGGACGGGGCCCCCC	0.652													False	0	True	11:66052203	0	T	66052203	C	T	66052203	3	4	88	1	0	0	0	0	1	0	0	0	17559	536	19	1	98	1	YIF1A	11	66052203	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8509	66052203	68954313	11890	19602											
TMEM151A	256472	broad.mit.edu	37	chr11	66062461	66062461	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcagcgccaacgagggCctggacgactatctggaggc	13	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66062461C>A	ENST00000327259.4	+	2	888	c.744C>A	c.(742-744)ggC>ggA	p.G248G		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	248						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CCAACGAGGGCCTGGACGACT	0.687													False	0	True	11:66062461	0	A	66062461	C	A	66062461	2	1	88	1	0	0	0	0	0	0	0	1	16152	726	26	3		3	TMEM151A	11	66062461	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10258	66062461	68944055	11891	19603											
CD248	57124	broad.mit.edu	37	chr11	66083499	66083499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccctcgctacaataacactCgaagccaccaacgtagttga	6	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66083499C>T	ENST00000311330.3	-	1	1016	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	334	EGF-like; calcium-binding (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CAATAACACTCGAAGCCACCA	0.607													False	0	False	11:66083499	0	T	66083499	C	T	66083499	3	4	88	1	0	0	0	0	1	0	0	0	3012	893	31	1	1277	1	CD248	11	66083499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21038	66083499	68923017	11892	19604											
RIN1	9610	broad.mit.edu	37	chr11	66102411	66102411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactgagctctccctccgtaGcagctggcaagggggcagcc	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66102411G>T	ENST00000311320.4	-	6	985	c.859C>A	c.(859-861)Cta>Ata	p.L287I	RIN1_ENST00000530056.1_Missense_Mutation_p.L182I|RIN1_ENST00000424433.2_Missense_Mutation_p.L182I|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	287					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCCCTCCGTAGCAGCTGGCAA	0.711													False	0	False	11:66102411	0	T	66102411	G	T	66102411	3	4	88	1	0	0	0	0	1	0	0	0	13450	962	34	3	1512	3	RIN1	11	66102411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18912	66102411	68904105	11893	19605											
BRMS1	25855	broad.mit.edu	37	chr11	66109606	66109606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtctggctgccgctccGctcctcctcactctcttcct	6	20	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66109606G>A	ENST00000359957.3	-	2	260	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	BRMS1_ENST00000425825.2_Missense_Mutation_p.R34W	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	34					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTGCCGCTCCGCTCCTCCTCA	0.567													False	0	True	11:66109606	0	A	66109606	G	A	66109606	3	1	88	1	0	0	0	0	1	0	0	0	1523	1086	38	1	820	1	BRMS1	11	66109606	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7195	66109606	68896910	11894	19606											
SLC29A2	3177	broad.mit.edu	37	chr11	66136654	66136654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggctgcccagaatgcGcaccgtctccgggacgctgc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66136654G>A	ENST00000357440.2	-	4	520	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	SLC29A2_ENST00000544554.1_Missense_Mutation_p.R98C|SLC29A2_ENST00000311161.7_Missense_Mutation_p.R98C|SLC29A2_ENST00000546034.1_Missense_Mutation_p.R98C	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	98					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						CCCAGAATGCGCACCGTCTCC	0.652													False	0	False	11:66136654	0	A	66136654	G	A	66136654	3	1	88	1	0	0	0	0	1	0	0	0	14615	1087	38	1	1114	1	SLC29A2	11	66136654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27048	66136654	68869862	11895	19607											
NPAS4	266743	broad.mit.edu	37	chr11	66192584	66192584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaggaggggccccatcGccttgcaacaacctgtcccc	11	18	0	0	rs151135507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66192584G>A	ENST00000311034.2	+	7	2399	c.2223G>A	c.(2221-2223)tcG>tcA	p.S741S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	741					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGCCCCATCGCCTTGCAACA	0.587													False	0	False	11:66192584	0	A	66192584	G	A	66192584	2	1	88	1	0	0	0	0	0	0	0	1	10633	1074	38	1		1	NPAS4	11	66192584	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55930	66192584	68813932	11896	19608											
PELI3	246330	broad.mit.edu	37	chr11	66243552	66243552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccccacggcacccatgctTtccatgccgcctgccccttt	7	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66243552T>C	ENST00000349459.6	+	7	1536	c.1252T>C	c.(1252-1254)Ttc>Ctc	p.F418L	PELI3_ENST00000320740.7_Missense_Mutation_p.F442L|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	442						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CACCCATGCTTTCCATGCCGC	0.672													False	0	True	11:66243552	0	C	66243552	T	C	66243552	3	2	88	1	0	0	0	0	1	0	0	0	11791	1841	64	4	1350	4	PELI3	11	66243552	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50968	66243552	68762964	11897	19609											
DPP3	10072	broad.mit.edu	37	chr11	66249865	66249865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctatgctctgctcagccGcctcttccgcgcccaggacc	8	19	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66249865G>A	ENST00000532677.1	+	2	652	c.251G>A	c.(250-252)cGc>cAc	p.R84H	DPP3_ENST00000530165.1_Missense_Mutation_p.R65H|DPP3_ENST00000453114.1_Missense_Mutation_p.R65H|DPP3_ENST00000360510.2_Missense_Mutation_p.R65H|DPP3_ENST00000541961.1_Missense_Mutation_p.R65H|DPP3_ENST00000531863.1_Missense_Mutation_p.R85H	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	65					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGCTCAGCCGCCTCTTCCGC	0.642													False	0	False	11:66249865	0	A	66249865	G	A	66249865	3	1	88	1	0	0	0	0	1	0	0	0	4758	1087	38	1	196	1	DPP3	11	66249865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6313	66249865	68756651	11898	19610											
DPP3	10072	broad.mit.edu	37	chr11	66254053	66254053	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggagtgaggctgctcagCagcacccagaagaagtcagg	15	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66254053C>T	ENST00000532677.1	+	4	861	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	DPP3_ENST00000530165.1_Nonsense_Mutation_p.Q105*|DPP3_ENST00000453114.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000360510.2_Nonsense_Mutation_p.Q135*|DPP3_ENST00000541961.1_Nonsense_Mutation_p.Q135*|DPP3_ENST00000531863.1_Nonsense_Mutation_p.Q155*	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	135					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGCTGCTCAGCAGCACCCAGA	0.602													False	0	False	11:66254053	0	T	66254053	C	T	66254053	4	4	88	1	0	0	0	0	0	1	0	0	4758	711	25	2	413	2	DPP3	11	66254053	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4188	66254053	68752463	11899	19611											
DPP3	10072	broad.mit.edu	37	chr11	66254796	66254796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatgccaaattggcccagGactttctggactcacaggtt	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66254796G>A	ENST00000532677.1	+	5	1014	c.613G>A	c.(613-615)Gac>Aac	p.D205N	DPP3_ENST00000530165.1_Missense_Mutation_p.D156N|DPP3_ENST00000453114.1_Missense_Mutation_p.D186N|DPP3_ENST00000360510.2_Missense_Mutation_p.D186N|DPP3_ENST00000541961.1_Missense_Mutation_p.D186N|DPP3_ENST00000531863.1_Missense_Mutation_p.D206N	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	186					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ATTGGCCCAGGACTTTCTGGA	0.537													False	0	False	11:66254796	0	A	66254796	G	A	66254796	3	1	88	1	0	0	0	0	1	0	0	0	4758	1174	41	2	570	2	DPP3	11	66254796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	743	66254796	68751720	11900	19612											
DPP3	10072	broad.mit.edu	37	chr11	66255388	66255388	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggtctcttctagaacCtcagtgcctacaacacccgg	8	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66255388C>A	ENST00000532677.1	+	6	1035	c.634C>A	c.(634-636)Ctc>Atc	p.L212I	DPP3_ENST00000530165.1_Missense_Mutation_p.L163I|DPP3_ENST00000453114.1_Missense_Mutation_p.L193I|DPP3_ENST00000360510.2_Missense_Mutation_p.L193I|DPP3_ENST00000541961.1_Missense_Mutation_p.L193I|DPP3_ENST00000531863.1_Missense_Mutation_p.L213I	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	193					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTTCTAGAACCTCAGTGCCTA	0.562													False	0	False	11:66255388	0	A	66255388	C	A	66255388	3	1	88	1	0	0	0	0	1	0	0	0	4758	681	24	3	595	3	DPP3	11	66255388	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	592	66255388	68751128	11901	19613											
DPP3	10072	broad.mit.edu	37	chr11	66259196	66259196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggttcatcgagagctaccgCgacccctttggttcccgagg	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66259196C>T	ENST00000532677.1	+	9	1415	c.1014C>T	c.(1012-1014)cgC>cgT	p.R338R	DPP3_ENST00000530165.1_Silent_p.R289R|DPP3_ENST00000453114.1_Silent_p.R319R|DPP3_ENST00000360510.2_Silent_p.R319R|DPP3_ENST00000541961.1_Silent_p.R319R|DPP3_ENST00000531863.1_Silent_p.R339R	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	319					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AGAGCTACCGCGACCCCTTTG	0.612													False	0	False	11:66259196	0	T	66259196	C	T	66259196	2	4	88	1	0	0	0	0	0	0	0	1	4758	755	27	1		1	DPP3	11	66259196	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3808	66259196	68747320	11902	19614											
ZDHHC24	254359	broad.mit.edu	37	chr11	66307147	66307147	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcagggacccaggtcataGgagtgctggccccgagccca	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66307147G>T	ENST00000310442.3	-	3	942	c.708C>A	c.(706-708)tcC>tcA	p.S236S	ZDHHC24_ENST00000526986.1_Intron	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	236						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CCAGGTCATAGGAGTGCTGGC	0.711													False	0	False	11:66307147	0	T	66307147	G	T	66307147	2	4	88	1	0	0	0	0	0	0	0	1	17698	987	35	3		3	ZDHHC24	11	66307147	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47951	66307147	68699369	11903	19615											
ACTN3	89	broad.mit.edu	37	chr11	66329613	66329613	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcagctcaacgagttcCgagcatccttcaaccacttt	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66329613C>T	ENST00000513398.1	+	0	2393				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CAACGAGTTCCGAGCATCCTT	0.597													False	0	False	11:66329613	0	T	66329613	C	T	66329613	1	4	88	0	1	0	0	0	0	0	0	0	206	644	23	1		1	ACTN3	11	66329613	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22466	66329613	68676903	11904	19616											
CCDC87	55231	broad.mit.edu	37	chr11	66359860	66359860	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccagtgctgtgaggccagggGatagggcacagcttgaacgt	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66359860G>T	ENST00000333861.3	-	1	694	c.627C>A	c.(625-627)atC>atA	p.I209I		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	209										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GAGGCCAGGGGATAGGGCACA	0.602													False	0	True	11:66359860	0	T	66359860	G	T	66359860	2	4	88	1	0	0	0	0	0	0	0	1	2883	1164	41	3		3	CCDC87	11	66359860	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30247	66359860	68646656	11905	19617											
CCS	9973	broad.mit.edu	37	chr11	66366974	66366974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggggggcctggcaccGtgcagggggtggtgcgcttc	20	11	0	0	rs149989199	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66366974G>A	ENST00000533244.1	+	4	736	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	CCS_ENST00000310190.4_Missense_Mutation_p.V80M	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	99	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCCTGGCACCGTGCAGGGGGT	0.632													False	0	False	11:66366974	0	A	66366974	G	A	66366974	3	1	88	1	0	0	0	0	1	0	0	0	2975	1145	40	1	309	1	CCS	11	66366974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7114	66366974	68639542	11906	19618											
RBM4B	83759	broad.mit.edu	37	chr11	66436255	66436255	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcatggctgcagcacgaCgcagtgggctcctgtccctt	14	13	0	0	rs149014922	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66436255C>T	ENST00000525754.1	-	2	1588	c.920G>A	c.(919-921)cGt>cAt	p.R307H	RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Missense_Mutation_p.R307H|RBM4B_ENST00000529195.2_5'UTR			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	307	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TGCAGCACGACGCAGTGGGCT	0.567													False	0	False	11:66436255	0	T	66436255	C	T	66436255	3	4	88	1	0	0	0	0	1	0	0	0	13221	536	19	1	163	1	RBM4B	11	66436255	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69281	66436255	68570261	11907	19619											
SPTBN2	6712	broad.mit.edu	37	chr11	66455061	66455061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagatggggccgggccccGagtccgggtctgcctctctc	15	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66455061G>A	ENST00000533211.1	-	35	6890	c.6559C>T	c.(6559-6561)Cgg>Tgg	p.R2187W	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2187W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2187W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2187					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCGGGCCCCGAGTCCGGGTC	0.672													False	0	True	11:66455061	0	A	66455061	G	A	66455061	3	1	88	1	0	0	0	0	1	0	0	0	15202	1057	37	1	629	1	SPTBN2	11	66455061	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18806	66455061	68551455	11908	19620											
SPTBN2	6712	broad.mit.edu	37	chr11	66456195	66456195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctggaaggcctcgtgccGcttgatgaggctctcaactt	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66456195G>A	ENST00000533211.1	-	31	6491	c.6160C>T	c.(6160-6162)Cgg>Tgg	p.R2054W	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2054W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2054W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2054					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCTCGTGCCGCTTGATGAGG	0.637													False	0	False	11:66456195	0	A	66456195	G	A	66456195	3	1	88	1	0	0	0	0	1	0	0	0	15202	1086	38	1	1044	1	SPTBN2	11	66456195	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1134	66456195	68550321	11909	19621											
SPTBN2	6712	broad.mit.edu	37	chr11	66460174	66460174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttcaggccggcatacaGcttgtccacctgggcttggc	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66460174G>A	ENST00000533211.1	-	26	5354	c.5023C>T	c.(5023-5025)Ctg>Ttg	p.L1675L	SPTBN2_ENST00000309996.2_Silent_p.L1675L|SPTBN2_ENST00000529997.1_Silent_p.L1675L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1675					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCGGCATACAGCTTGTCCACC	0.637													False	0	False	11:66460174	0	A	66460174	G	A	66460174	2	1	88	1	0	0	0	0	0	0	0	1	15202	962	34	2		2	SPTBN2	11	66460174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3979	66460174	68546342	11910	19622											
SPTBN2	6712	broad.mit.edu	37	chr11	66461759	66461759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcccctgcaccctggtcctCctgggccagtgctttggcct	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66461759C>T	ENST00000533211.1	-	22	4685	c.4354G>A	c.(4354-4356)Gag>Aag	p.E1452K	SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1452K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1452K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1452					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCTGGTCCTCCTGGGCCAGT	0.642											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:66461759	0	T	66461759	C	T	66461759	3	4	88	1	0	0	0	0	1	0	0	0	15202	864	30	2	2886	2	SPTBN2	11	66461759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1585	66461759	68544757	11911	19623											
SPTBN2	6712	broad.mit.edu	37	chr11	66466946	66466946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccttcagataccagctggCggccagcctccaggagcccg	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66466946C>T	ENST00000533211.1	-	18	4038	c.3707G>A	c.(3706-3708)cGc>cAc	p.R1236H	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1236H|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1236H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1236					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TACCAGCTGGCGGCCAGCCTC	0.547													False	0	False	11:66466946	0	T	66466946	C	T	66466946	3	4	88	1	0	0	0	0	1	0	0	0	15202	768	27	1	3549	1	SPTBN2	11	66466946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5187	66466946	68539570	11912	19624											
SPTBN2	6712	broad.mit.edu	37	chr11	66468126	66468126	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccagccagttcccagggcCtccagtcgctgtcgtaggaa	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66468126C>A	ENST00000533211.1	-	17	3775	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D	SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1148D|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1148D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1148					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTCCCAGGGCCTCCAGTCGCT	0.697													False	0	False	11:66468126	0	A	66468126	C	A	66468126	3	1	88	1	0	0	0	0	1	0	0	0	15202	680	24	3	3816	3	SPTBN2	11	66468126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1180	66468126	68538390	11913	19625											
SPTBN2	6712	broad.mit.edu	37	chr11	66472170	66472170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtccacaggccccggcctcGctgagcatggtgtagagcgc	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66472170G>A	ENST00000533211.1	-	15	2908	c.2577C>T	c.(2575-2577)agC>agT	p.S859S	SPTBN2_ENST00000309996.2_Silent_p.S859S|SPTBN2_ENST00000529997.1_Silent_p.S859S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	859					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCCGGCCTCGCTGAGCATGG	0.706													False	0	False	11:66472170	0	A	66472170	G	A	66472170	2	1	88	1	0	0	0	0	0	0	0	1	15202	1078	38	1		1	SPTBN2	11	66472170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4044	66472170	68534346	11914	19626											
SPTBN2	6712	broad.mit.edu	37	chr11	66481107	66481107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctctggccccaccttcgGgatccagcagcttggtaagt	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66481107G>A	ENST00000533211.1	-	8	1098	c.767C>T	c.(766-768)cCc>cTc	p.P256L	SPTBN2_ENST00000309996.2_Missense_Mutation_p.P256L|SPTBN2_ENST00000529997.1_Missense_Mutation_p.P256L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	256	Actin-binding.|CH 2.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCACCTTCGGGATCCAGCAG	0.512													False	0	True	11:66481107	0	A	66481107	G	A	66481107	3	1	88	1	0	0	0	0	1	0	0	0	15202	1232	43	2	6529	2	SPTBN2	11	66481107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8937	66481107	68525409	11915	19627											
RCE1	9986	broad.mit.edu	37	chr11	66611062	66611062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctcctgcctcagcctcGcctgctcctacgtgggcagc	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66611062G>A	ENST00000309657.3	+	1	180	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	RCE1_ENST00000524506.1_Missense_Mutation_p.A46T	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	46					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCTCAGCCTCGCCTGCTCCTA	0.746													False	0	False	11:66611062	0	A	66611062	G	A	66611062	3	1	88	1	0	0	0	0	1	0	0	0	13255	1087	38	1	138	1	RCE1	11	66611062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129955	66611062	68395454	11916	19628											
PC	5091	broad.mit.edu	37	chr11	66619997	66619997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgtgggtgcgcacacgagTggccagcagtgactggtggg	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66619997T>C	ENST00000393960.1	-	15	2019	c.1738A>G	c.(1738-1740)Act>Gct	p.T580A	PC_ENST00000393955.2_Missense_Mutation_p.T580A|PC_ENST00000393958.2_Missense_Mutation_p.T580A	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	580	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGCACACGAGTGGCCAGCAGT	0.617													False	0	False	11:66619997	0	C	66619997	T	C	66619997	3	2	88	1	0	0	0	0	1	0	0	0	11565	1696	59	4	1834	4	PC	11	66619997	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8935	66619997	68386519	11917	19629											
SYT12	91683	broad.mit.edu	37	chr11	66816068	66816068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaggacctgtctctccGcgtgacggtggctgagagca	13	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66816068G>A	ENST00000393946.2	+	11	2268	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SYT12_ENST00000525457.1_Missense_Mutation_p.R369H|SYT12_ENST00000527043.1_Missense_Mutation_p.R369H			Q8IV01	SYT12_HUMAN	synaptotagmin XII	369	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane		p.R369H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CTGTCTCTCCGCGTGACGGTG	0.597													False	0	False	11:66816068	0	A	66816068	G	A	66816068	3	1	88	1	0	0	0	0	1	0	0	0	15550	1087	38	1	1132	1	SYT12	11	66816068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	196071	66816068	68190448	11918	19630											
RHOD	29984	broad.mit.edu	37	chr11	66834227	66834227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcaagatgactatgaccGcctgcggcccctgttctacc	11	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66834227G>A	ENST00000308831.2	+	3	324	c.239G>A	c.(238-240)cGc>cAc	p.R80H	RHOD_ENST00000533360.1_Missense_Mutation_p.R80H|RHOD_ENST00000532559.1_Intron	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	80					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						GACTATGACCGCCTGCGGCCC	0.592													False	0	False	11:66834227	0	A	66834227	G	A	66834227	3	1	88	1	0	0	0	0	1	0	0	0	13416	1087	38	1	249	1	RHOD	11	66834227	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18159	66834227	68172289	11919	19631											
KDM2A	22992	broad.mit.edu	37	chr11	66975059	66975059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catggctcagtggacacgctActatgagaccccagaggagg	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66975059A>G	ENST00000529006.2	+	6	832	c.386A>G	c.(385-387)tAc>tGc	p.Y129C	KDM2A_ENST00000398645.2_Missense_Mutation_p.Y129C	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGGACACGCTACTATGAGACC	0.517													False	0	False	11:66975059	0	G	66975059	A	G	66975059	3	3	88	1	0	0	0	0	1	0	0	0	8174	391	14	4	404	4	KDM2A	11	66975059	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	140832	66975059	68031457	11920	19632											
KDM2A	22992	broad.mit.edu	37	chr11	67012741	67012741	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaaaccagctccacggTtaacacctgtgaggccagct	9	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67012741T>C	ENST00000529006.2	+	14	2091	c.1645T>C	c.(1645-1647)Tta>Cta	p.L549L	KDM2A_ENST00000530342.1_Silent_p.L110L|KDM2A_ENST00000398645.2_Silent_p.L549L|KDM2A_ENST00000308783.5_Silent_p.L7L|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGCTCCACGGTTAACACCTGT	0.547													False	0	False	11:67012741	0	C	67012741	T	C	67012741	2	2	88	1	0	0	0	0	0	0	0	1	8174	1722	60	4		4	KDM2A	11	67012741	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37682	67012741	67993775	11921	19633											
KDM2A	22992	broad.mit.edu	37	chr11	67018039	67018039	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagcccgaaccccccaGcgtggggatgaggaggggct	16	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67018039G>A	ENST00000529006.2	+	17	2984	c.2538G>A	c.(2536-2538)caG>caA	p.Q846Q	KDM2A_ENST00000530342.1_Silent_p.Q407Q|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_Silent_p.Q304Q|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	846					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GAACCCCCCAGCGTGGggatg	0.652													False	0	False	11:67018039	0	A	67018039	G	A	67018039	2	1	88	1	0	0	0	0	0	0	0	1	8174	962	34	2		2	KDM2A	11	67018039	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5298	67018039	67988477	11922	19634											
ADRBK1	156	broad.mit.edu	37	chr11	67049022	67049022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatgctctcgctcgtcaGcactggggtgagctgggtgg	15	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049022G>A	ENST00000308595.5	+	9	1030	c.740G>A	c.(739-741)aGc>aAc	p.S247N	ADRBK1_ENST00000526285.1_Missense_Mutation_p.S247N	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	247	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCGCTCGTCAGCACTGGGGTG	0.667													False	0	False	11:67049022	0	A	67049022	G	A	67049022	3	1	88	1	0	0	0	0	1	0	0	0	343	971	34	2	774	2	ADRBK1	11	67049022	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30983	67049022	67957494	11923	19635											
ADRBK1	156	broad.mit.edu	37	chr11	67049920	67049920	+	Missense_Mutation	SNP	A	A	G													ccacaggggcacccacgggtAcatggctccggaggtcctgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049920A>G	ENST00000308595.5	+	13	1357	c.1067A>G	c.(1066-1068)tAc>tGc	p.Y356C	ADRBK1_ENST00000526285.1_Missense_Mutation_p.Y356C|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	356	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	ACCCACGGGTACATGGCTCCG	0.662													False	0	False	11:67049920	0	G	67049920	A	G	67049920	3	3	88	1	0	0	0	0	1	0	0	0	343	391	14	4	1117	4	ADRBK1	11	67049920	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	898	67049920	67956596	11924	19636	221	2									
ADRBK1	156	broad.mit.edu	37	chr11	67049925	67049925	+	Missense_Mutation	SNP	G	G	A													ggggcacccacgggtacatgGctccggaggtcctgcagaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049925G>A	ENST00000308595.5	+	13	1362	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T	ADRBK1_ENST00000526285.1_Missense_Mutation_p.A358T|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	358	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGGGTACATGGCTCCGGAGGT	0.667													False	0	False	11:67049925	0	A	67049925	G	A	67049925	3	1	88	1	0	0	0	0	1	0	0	0	343	1203	42	2	1122	2	ADRBK1	11	67049925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	67049925	67956591	11925	19637	221	2									
ADRBK1	156	broad.mit.edu	37	chr11	67050268	67050268	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accaaagacaagcatgagatCgaccgcatgacgctgacgat	10	11	0	4	rs150236476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67050268C>T	ENST00000308595.5	+	14	1496	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	402	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGCATGAGATCGACCGCATGA	0.607													False	0	False	11:67050268	0	T	67050268	C	T	67050268	2	4	88	1	0	0	0	0	0	0	0	1	343	874	31	1		1	ADRBK1	11	67050268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343	67050268	67956248	11926	19638											
ANKRD13D	338692	broad.mit.edu	37	chr11	67068443	67068443	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccgtgcctcacccatgtcCtgtggtcggctgggcaggtt	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67068443C>A	ENST00000515828.1	+	1	197	c.6C>A	c.(4-6)tcC>tcA	p.S2S	ANKRD13D_ENST00000308440.6_Intron|ANKRD13D_ENST00000511455.2_Intron|ANKRD13D_ENST00000514166.1_Intron|ANKRD13D_ENST00000447274.2_Intron			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	0										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACCCATGTCCTGTGGTCGGC	0.627													False	0	False	11:67068443	0	A	67068443	C	A	67068443	2	1	88	1	0	0	0	0	0	0	0	1	644	696	24	3		3	ANKRD13D	11	67068443	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18175	67068443	67938073	11927	19639											
RAD9A	5883	broad.mit.edu	37	chr11	67163803	67163803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccacactctcagacacCgactcgcactcccaggacct	7	18	1	1	rs141857815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67163803C>T	ENST00000307980.2	+	9	897	c.804C>T	c.(802-804)acC>acT	p.T268T	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	268	Sufficient for interaction with ABL1.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCTCAGACACCGACTCGCACT	0.642								Other conserved DNA damage response genes					False	0	False	11:67163803	0	T	67163803	C	T	67163803	2	4	88	1	0	0	0	0	0	0	0	1	13074	639	23	1		1	RAD9A	11	67163803	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95360	67163803	67842713	11928	19640											
PPP1CA	5499	broad.mit.edu	37	chr11	67166104	67166104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccccttgttcttgtcggCgggcttgaggatctaaaaga	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67166104C>T	ENST00000376745.4	-	7	1043	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	PPP1CA_ENST00000312989.7_Missense_Mutation_p.A310T|PPP1CA_ENST00000358239.4_Missense_Mutation_p.A255T|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	299					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TTCTTGTCGGCGGGCTTGAGG	0.587													False	0	True	11:67166104	0	T	67166104	C	T	67166104	3	4	88	1	0	0	0	0	1	0	0	0	12423	768	27	1	101	1	PPP1CA	11	67166104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2301	67166104	67840412	11929	19641											
CARNS1	57571	broad.mit.edu	37	chr11	67186961	67186961	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccctccttgctgcaggtaGctgtgaagctcagtggctgg	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67186961G>T	ENST00000445895.2	+	5	970	c.856G>T	c.(856-858)Gct>Tct	p.A286S	CARNS1_ENST00000531040.1_Missense_Mutation_p.A286S|CARNS1_ENST00000307823.3_Missense_Mutation_p.A163S|CARNS1_ENST00000423745.2_Missense_Mutation_p.A163S			A5YM72	CRNS1_HUMAN	carnosine synthase 1	163					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GCTGCAGGTAGCTGTGAAGCT	0.672													False	0	False	11:67186961	0	T	67186961	G	T	67186961	3	4	88	1	0	0	0	0	1	0	0	0	2676	971	34	3	874	3	CARNS1	11	67186961	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20857	67186961	67819555	11930	19642											
RPS6KB2	6199	broad.mit.edu	37	chr11	67196455	67196455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcggtttctcacaggaCgcatgtccccttgccgagtt	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67196455C>T	ENST00000312629.5	+	2	126	c.81C>T	c.(79-81)gaC>gaT	p.D27D	RPS6KB2_ENST00000539188.1_Silent_p.D27D|RPS6KB2_ENST00000524814.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	27					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCTCACAGGACGCATGTCCCC	0.627													False	0	False	11:67196455	0	T	67196455	C	T	67196455	2	4	88	1	0	0	0	0	0	0	0	1	13736	535	19	1		1	RPS6KB2	11	67196455	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9494	67196455	67810061	11931	19643											
RPS6KB2	6199	broad.mit.edu	37	chr11	67200475	67200475	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagtctatccatgagggCgccgtcactcacaccttctg	10	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67200475C>T	ENST00000312629.5	+	8	714	c.669C>T	c.(667-669)ggC>ggT	p.G223G	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000539188.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	223	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCCATGAGGGCGCCGTCACTC	0.627													False	0	True	11:67200475	0	T	67200475	C	T	67200475	2	4	88	1	0	0	0	0	0	0	0	1	13736	755	27	1		1	RPS6KB2	11	67200475	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4020	67200475	67806041	11932	19644											
CORO1B	57175	broad.mit.edu	37	chr11	67205955	67205955	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcagctcctgcatcacctcCtccagcttcccagcctcctg	6	21	1	0	rs150750630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67205955C>A	ENST00000393893.1	-	12	1465	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000341356.5_Missense_Mutation_p.E454D	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	454					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCATCACCTCCTCCAGCTTCC	0.677													False	0	False	11:67205955	0	A	67205955	C	A	67205955	3	1	88	1	0	0	0	0	1	0	0	0	3777	680	24	3	111	3	CORO1B	11	67205955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5480	67205955	67800561	11933	19645											
CORO1B	57175	broad.mit.edu	37	chr11	67206391	67206391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgggcccggctgtgtcGgggtacagatcatcctggaa	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67206391G>A	ENST00000393893.1	-	11	1198	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000341356.5_Silent_p.P365P	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	365					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGGCTGTGTCGGGGTACAGAT	0.687													False	0	True	11:67206391	0	A	67206391	G	A	67206391	2	1	88	1	0	0	0	0	0	0	0	1	3777	1103	39	1		1	CORO1B	11	67206391	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	436	67206391	67800125	11934	19646											
GPR152	390212	broad.mit.edu	37	chr11	67219490	67219490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtcctggccacacgggCgaagccccggcaggctgcgg	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67219490C>T	ENST00000312457.2	-	1	710	c.706G>A	c.(706-708)Gcc>Acc	p.A236T		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	236						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCCACACGGGCGAAGCCCCGG	0.667													False	0	True	11:67219490	0	T	67219490	C	T	67219490	3	4	88	1	0	0	0	0	1	0	0	0	6704	768	27	1	710	1	GPR152	11	67219490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13099	67219490	67787026	11935	19647											
GPR152	390212	broad.mit.edu	37	chr11	67219976	67219976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaagaagtcagagagggCcaggctgagcaggagcagcg	17	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67219976C>T	ENST00000312457.2	-	1	224	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TCAGAGAGGGCCAGGCTGAGC	0.672													False	0	True	11:67219976	0	T	67219976	C	T	67219976	3	4	88	1	0	0	0	0	1	0	0	0	6704	739	26	2	1196	2	GPR152	11	67219976	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	486	67219976	67786540	11936	19648											
PITPNM1	9600	broad.mit.edu	37	chr11	67260478	67260478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggggacagccccagcgccGcgtatacagccacatctttg	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67260478G>A	ENST00000356404.3	-	23	3623	c.3398C>T	c.(3397-3399)gCg>gTg	p.A1133V	PITPNM1_ENST00000436757.2_Missense_Mutation_p.A1132V|PITPNM1_ENST00000534749.1_Missense_Mutation_p.A1133V	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1133				A -> T (in Ref. 1; CAA67224).	brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCCCAGCGCCGCGTATACAGC	0.642													False	0	False	11:67260478	0	A	67260478	G	A	67260478	3	1	88	1	0	0	0	0	1	0	0	0	12019	1087	38	1	344	1	PITPNM1	11	67260478	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40502	67260478	67746038	11937	19649											
PITPNM1	9600	broad.mit.edu	37	chr11	67269540	67269540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggggccactgcatcccGcacgatgtcgatggtgtctg	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67269540G>A	ENST00000356404.3	-	5	658	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	PITPNM1_ENST00000436757.2_Missense_Mutation_p.R145W|PITPNM1_ENST00000534749.1_Missense_Mutation_p.R145W	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	145					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACTGCATCCCGCACGATGTCG	0.622													False	0	True	11:67269540	0	A	67269540	G	A	67269540	3	1	88	1	0	0	0	0	1	0	0	0	12019	1086	38	1	3381	1	PITPNM1	11	67269540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9062	67269540	67736976	11938	19650											
GSTP1	2950	broad.mit.edu	37	chr11	67354023	67354023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgagtacgtgaacctccCcatcaatggcaacgggaaac	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67354023C>T	ENST00000398606.3	+	7	857	c.608C>T	c.(607-609)cCc>cTc	p.P203L	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Missense_Mutation_p.P167L	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	203	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	GTGAACCTCCCCATCAATGGC	0.582													False	0	True	11:67354023	0	T	67354023	C	T	67354023	3	4	88	1	0	0	0	0	1	0	0	0	6891	623	22	2	634	2	GSTP1	11	67354023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84483	67354023	67652493	11939	19651											
NDUFV1	4723	broad.mit.edu	37	chr11	67376922	67376922	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacctgtgggcccctgcaGgcccaagtatctggtggtga	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67376922G>T	ENST00000322776.6	+	4	479		c.e4-1		NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000526169.1_Splice_Site|NDUFV1_ENST00000529927.1_Splice_Site|NDUFV1_ENST00000532303.1_Splice_Site	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GGCCCCTGCAGGCCCAAGTAT	0.622													False	0	False	11:67376922	0	T	67376922	G	T	67376922	5	4	88	1	0	0	0	0	0	0	1	0	10367	1014	35	3	340	3	NDUFV1	11	67376922	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22899	67376922	67629594	11940	19652											
NUDT8	254552	broad.mit.edu	37	chr11	67397232	67397232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaggcggctggaccgcaGcgtgtacagcagcgccggga	18	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67397232G>T	ENST00000301490.4	-	1	169	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	NUDT8_ENST00000376693.2_Missense_Mutation_p.L51M	NM_181843.2	NP_862826.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	51	Nudix hydrolase.					mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						CTGGACCGCAGCGTGTACAGC	0.761													False	0	False	11:67397232	0	T	67397232	G	T	67397232	3	4	88	1	0	0	0	0	1	0	0	0	10813	962	34	3	283	3	NUDT8	11	67397232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20310	67397232	67609284	11941	19653											
TBX10	347853	broad.mit.edu	37	chr11	67401799	67401799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgggtctgccttgcccGccaccagccaggccgagctg	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67401799G>A	ENST00000335385.3	-	4	497	c.410C>T	c.(409-411)gCg>gTg	p.A137V		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	137					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TGCCTTGCCCGCCACCAGCCA	0.647													False	0	True	11:67401799	0	A	67401799	G	A	67401799	3	1	88	1	0	0	0	0	1	0	0	0	15733	1087	38	1	767	1	TBX10	11	67401799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4567	67401799	67604717	11942	19654											
ALDH3B2	222	broad.mit.edu	37	chr11	67433656	67433656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcctggggtccgcccaGcaccacggcaaagcagctct	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67433656G>T	ENST00000349015.3	-	6	694	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.L86M	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	86					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GGTCCGCCCAGCACCACGGCA	0.647													False	0	False	11:67433656	0	T	67433656	G	T	67433656	3	4	88	1	0	0	0	0	1	0	0	0	500	962	34	3	921	3	ALDH3B2	11	67433656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31857	67433656	67572860	11943	19655											
ALDH3B1	221	broad.mit.edu	37	chr11	67789274	67789274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaacagttccagcggctgCgggcattgctgggctgcggc	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67789274C>T	ENST00000539229.1	+	8	996	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.R294W|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.R258W	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	295					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	CCAGCGGCTGCGGGCATTGCT	0.647													False	0	True	11:67789274	0	T	67789274	C	T	67789274	3	4	88	1	0	0	0	0	1	0	0	0	499	759	27	1	904	1	ALDH3B1	11	67789274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	355618	67789274	67217242	11944	19656											
ALDH3B1	221	broad.mit.edu	37	chr11	67790162	67790162	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtgcagagcttggacgAggccatcgagttcatcaacc	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67790162A>C	ENST00000539229.1	+	10	1159	c.1043A>C	c.(1042-1044)gAg>gCg	p.E348A	ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.E348A|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.E312A	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	350					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	AGCTTGGACGAGGCCATCGAG	0.657													False	0	False	11:67790162	0	C	67790162	A	C	67790162	3	2	88	1	0	0	0	0	1	0	0	0	499	304	11	4	1073	4	ALDH3B1	11	67790162	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	888	67790162	67216354	11945	19657											
TCIRG1	10312	broad.mit.edu	37	chr11	67816688	67816688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggccgcctcggcccccaGcatcctcatccacttcatca	7	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67816688G>T	ENST00000265686.3	+	15	1922	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	TCIRG1_ENST00000532635.1_Missense_Mutation_p.S389I	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	605					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TCGGCCCCCAGCATCCTCATC	0.642													False	0	False	11:67816688	0	T	67816688	G	T	67816688	3	4	88	1	0	0	0	0	1	0	0	0	15785	971	34	3	1868	3	TCIRG1	11	67816688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26526	67816688	67189828	11946	19658											
SUV420H1	51111	broad.mit.edu	37	chr11	67925463	67925463	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaccccctattttcctcatCtcgttttagctggattttta	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67925463C>A	ENST00000304363.4	-	11	2703	c.2350G>T	c.(2350-2352)Gat>Tat	p.D784Y		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTTCCTCATCTCGTTTTAGC	0.413													False	0	False	11:67925463	0	A	67925463	C	A	67925463	3	1	88	1	0	0	0	0	1	0	0	0	15496	913	32	3	311	3	SUV420H1	11	67925463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108775	67925463	67081053	11947	19659											
SUV420H1	51111	broad.mit.edu	37	chr11	67925796	67925796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacaactgaacaaccgaCgggtgaaggagcacagtctg	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67925796C>T	ENST00000304363.4	-	11	2370	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAACAACCGACGGGTGAAGGA	0.493													False	0	True	11:67925796	0	T	67925796	C	T	67925796	3	4	88	1	0	0	0	0	1	0	0	0	15496	536	19	1	644	1	SUV420H1	11	67925796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333	67925796	67080720	11948	19660											
SUV420H1	51111	broad.mit.edu	37	chr11	67939172	67939172	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattctattttgtcatttcGtttcctatttaaaatatgtg	4	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67939172G>A	ENST00000304363.4	-	7	1011	c.658C>T	c.(658-660)Cga>Tga	p.R220*	SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.R220*|SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.R197*	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	220	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTGTCATTTCGTTTCCTATTT	0.299													False	0	True	11:67939172	0	A	67939172	G	A	67939172	4	1	88	1	0	0	0	0	0	1	0	0	15496	1153	40	1	2027	1	SUV420H1	11	67939172	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13376	67939172	67067344	11949	19661											
LRP5	4041	broad.mit.edu	37	chr11	68153814	68153814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgctgctggcccggcGgacggacctacggaggatct	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68153814G>A	ENST00000294304.7	+	6	1152	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	349	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGCCCGGCGGACGGACCTA	0.662													False	0	True	11:68153814	0	A	68153814	G	A	68153814	3	1	88	1	0	0	0	0	1	0	0	0	9022	1116	39	1	1068	1	LRP5	11	68153814	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214642	68153814	66852702	11950	19662											
LRP5	4041	broad.mit.edu	37	chr11	68171011	68171011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggacaagctcccgcacattTttgggttcacgctgctgggg	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68171011T>C	ENST00000294304.7	+	8	1751	c.1645T>C	c.(1645-1647)Ttt>Ctt	p.F549L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	549	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCGCACATTTTTGGGTTCAC	0.597													False	0	True	11:68171011	0	C	68171011	T	C	68171011	3	2	88	1	0	0	0	0	1	0	0	0	9022	1841	64	4	1675	4	LRP5	11	68171011	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17197	68171011	66835505	11951	19663											
LRP5	4041	broad.mit.edu	37	chr11	68181324	68181324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccacctggacttcgtgatgGacatcctggtgttccactcc	10	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68181324G>A	ENST00000294304.7	+	12	2777	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	891	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTCGTGATGGACATCCTGGT	0.607													False	0	False	11:68181324	0	A	68181324	G	A	68181324	3	1	88	1	0	0	0	0	1	0	0	0	9022	1174	41	2	2717	2	LRP5	11	68181324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10313	68181324	66825192	11952	19664											
LRP5	4041	broad.mit.edu	37	chr11	68191127	68191127	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgctgcgtggggaccgCgacaagcccagggccatcgt	17	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68191127C>T	ENST00000294304.7	+	14	3304	c.3198C>T	c.(3196-3198)cgC>cgT	p.R1066R		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1066	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGGGACCGCGACAAGCCCA	0.677													False	0	False	11:68191127	0	T	68191127	C	T	68191127	2	4	88	1	0	0	0	0	0	0	0	1	9022	755	27	1		1	LRP5	11	68191127	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9803	68191127	66815389	11953	19665											
LRP5	4041	broad.mit.edu	37	chr11	68206126	68206126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatttcatagccccgggcGgttcccagcatggccccttc	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68206126G>A	ENST00000294304.7	+	20	4430	c.4324G>A	c.(4324-4326)Ggt>Agt	p.G1442S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1442					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCCCGGGCGGTTCCCAGCA	0.642													False	0	False	11:68206126	0	A	68206126	G	A	68206126	3	1	88	1	0	0	0	0	1	0	0	0	9022	1116	39	1	4402	1	LRP5	11	68206126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14999	68206126	66800390	11954	19666											
MTL5	9633	broad.mit.edu	37	chr11	68517673	68517673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttactgggatcatgcggacGcccgggtgggaggctccttc	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68517673G>A	ENST00000443940.2	-	2	542	c.456C>T	c.(454-456)ggC>ggT	p.G152G	MTL5_ENST00000255087.5_Silent_p.G152G|MTL5_ENST00000544963.1_Silent_p.G152G|MTL5_ENST00000540869.1_5'UTR			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	152					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TCATGCGGACGCCCGGGTGGG	0.667													False	0	True	11:68517673	0	A	68517673	G	A	68517673	2	1	88	1	0	0	0	0	0	0	0	1	10003	1074	38	1		1	MTL5	11	68517673	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311547	68517673	66488843	11955	19667											
MTL5	9633	broad.mit.edu	37	chr11	68517909	68517909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgacctggcccttgcagtCggcgcccagcgcggggttga	15	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68517909C>T	ENST00000443940.2	-	2	306	c.220G>A	c.(220-222)Gac>Aac	p.D74N	MTL5_ENST00000255087.5_Missense_Mutation_p.D74N|MTL5_ENST00000544963.1_Missense_Mutation_p.D74N			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	74					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTGCAGTCGGCGCCCAGC	0.697													False	0	False	11:68517909	0	T	68517909	C	T	68517909	3	4	88	1	0	0	0	0	1	0	0	0	10003	884	31	1	1346	1	MTL5	11	68517909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	236	68517909	66488607	11956	19668											
MTL5	9633	broad.mit.edu	37	chr11	68518082	68518082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaagagctccgtcaccatcGcatcctcggggctgggcagc	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68518082G>A	ENST00000443940.2	-	2	133	c.47C>T	c.(46-48)gCg>gTg	p.A16V	MTL5_ENST00000255087.5_Missense_Mutation_p.A16V|MTL5_ENST00000544963.1_Missense_Mutation_p.A16V			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	16					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CGTCACCATCGCATCCTCGGG	0.711													False	0	False	11:68518082	0	A	68518082	G	A	68518082	3	1	88	1	0	0	0	0	1	0	0	0	10003	1087	38	1	1519	1	MTL5	11	68518082	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173	68518082	66488434	11957	19669											
MRPL21	219927	broad.mit.edu	37	chr11	68664142	68664142	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctcattcaccttcttcacGacctctgcaggggaaggcgg	10	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68664142G>A	ENST00000362034.2	-	4	246	c.237C>T	c.(235-237)gtC>gtT	p.V79V	MRPL21_ENST00000567045.1_5'UTR|MRPL21_ENST00000450904.2_5'UTR	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	79					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTTCTTCACGACCTCTGCAG	0.632													False	0	False	11:68664142	0	A	68664142	G	A	68664142	2	1	88	1	0	0	0	0	0	0	0	1	9854	1045	37	1		1	MRPL21	11	68664142	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146060	68664142	66342374	11958	19670											
IGHMBP2	3508	broad.mit.edu	37	chr11	68703961	68703961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccccagggacctgctacGtccaccaggaccggaagcca	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68703961G>A	ENST00000255078.3	+	13	2124	c.2013G>A	c.(2011-2013)acG>acA	p.T671T		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	671			T -> A (in dbSNP:rs622082).		cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GACCTGCTACGTCCACCAGGA	0.622													False	0	False	11:68703961	0	A	68703961	G	A	68703961	2	1	88	1	0	0	0	0	0	0	0	1	7641	1132	40	1		1	IGHMBP2	11	68703961	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39819	68703961	66302555	11959	19671											
IGHMBP2	3508	broad.mit.edu	37	chr11	68707097	68707097	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgggaccaagaacggatcCctggacccagccaagagggc	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68707097C>A	ENST00000255078.3	+	15	2991	c.2880C>A	c.(2878-2880)tcC>tcA	p.S960S		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	960					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAACGGATCCCTGGACCCAG	0.652													False	0	True	11:68707097	0	A	68707097	C	A	68707097	2	1	88	1	0	0	0	0	0	0	0	1	7641	610	22	3		3	IGHMBP2	11	68707097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3136	68707097	66299419	11960	19672											
MRGPRD	116512	broad.mit.edu	37	chr11	68747857	68747857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcacccagacaaagaggGtcaggctggacagagtcatc	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68747857G>A	ENST00000309106.3	-	1	598	c.599C>T	c.(598-600)aCc>aTc	p.T200I		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	200						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GACAAAGAGGGTCAGGCTGGA	0.592													False	0	True	11:68747857	0	A	68747857	G	A	68747857	3	1	88	1	0	0	0	0	1	0	0	0	9830	1261	44	2	369	2	MRGPRD	11	68747857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40760	68747857	66258659	11961	19673											
TPCN2	219931	broad.mit.edu	37	chr11	68821505	68821505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccctctgcctgcaggtgcCgcggccaggtgggacctctg	14	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68821505C>T	ENST00000294309.3	+	2	215	c.114C>T	c.(112-114)gcC>gcT	p.A38A	TPCN2_ENST00000542467.1_Silent_p.A38A	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	38					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCAGGTGCCGCGGCCAGGT	0.622													False	0	False	11:68821505	0	T	68821505	C	T	68821505	2	4	88	1	0	0	0	0	0	0	0	1	16479	639	23	1		1	TPCN2	11	68821505	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73648	68821505	66185011	11962	19674											
TPCN2	219931	broad.mit.edu	37	chr11	68830434	68830434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaccttgaaatgcatccGctggtcgctgccggaaatgg	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68830434G>A	ENST00000294309.3	+	6	730	c.629G>A	c.(628-630)cGc>cAc	p.R210H	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.R210H	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	210					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAATGCATCCGCTGGTCGCTG	0.632													False	0	False	11:68830434	0	A	68830434	G	A	68830434	3	1	88	1	0	0	0	0	1	0	0	0	16479	1087	38	1	651	1	TPCN2	11	68830434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8929	68830434	66176082	11963	19675											
PPFIA1	8500	broad.mit.edu	37	chr11	70170552	70170552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatgtatgcagggaacaGctccttgaaagggaagaaga	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70170552G>A	ENST00000253925.7	+	3	524	c.309G>A	c.(307-309)caG>caA	p.Q103Q	PPFIA1_ENST00000389547.3_Silent_p.Q103Q|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	103					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCAGGGAACAGCTCCTTGAAA	0.423													False	0	False	11:70170552	0	A	70170552	G	A	70170552	2	1	88	1	0	0	0	0	0	0	0	1	12378	962	34	2		2	PPFIA1	11	70170552	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1340118	70170552	64835964	11964	19676											
PPFIA1	8500	broad.mit.edu	37	chr11	70208223	70208223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaattgctggaggaagccCggagacaaggtttacctttt	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70208223C>T	ENST00000253925.7	+	20	2820	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	PPFIA1_ENST00000389547.3_Missense_Mutation_p.R869W|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	869					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.R869W(1)|p.R869R(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGAGGAAGCCCGGAGACAAGG	0.478													False	0	True	11:70208223	0	T	70208223	C	T	70208223	3	4	88	1	0	0	0	0	1	0	0	0	12378	643	23	1	2679	1	PPFIA1	11	70208223	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37671	70208223	64798293	11965	19677											
PPFIA1	8500	broad.mit.edu	37	chr11	70224261	70224261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgggtgacttcttctatGtcttccccctctatgcagcc	7	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70224261G>A	ENST00000253925.7	+	26	3725	c.3510G>A	c.(3508-3510)atG>atA	p.M1170I	AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.M1170I	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1170					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTTCTTCTATGTCTTCCCCCT	0.498													False	0	False	11:70224261	0	A	70224261	G	A	70224261	3	1	88	1	0	0	0	0	1	0	0	0	12378	1377	48	2	3608	2	PPFIA1	11	70224261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16038	70224261	64782255	11966	19678											
CTTN	2017	broad.mit.edu	37	chr11	70256068	70256068	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagaccgaatggataaggTaagtggcccgcggctgccta	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70256068T>C	ENST00000301843.8	+	5	497		c.e5+2		CTTN_ENST00000527622.1_Splice_Site|CTTN_ENST00000376561.3_Splice_Site|CTTN_ENST00000346329.3_Splice_Site	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin							cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ATGGATAAGGTAAGTGGCCCG	0.522													False	0	False	11:70256068	0	C	70256068	T	C	70256068	5	2	88	1	0	0	0	0	0	0	1	0	4069	1652	57	4	303	4	CTTN	11	70256068	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31807	70256068	64750448	11967	19679											
SHANK2	22941	broad.mit.edu	37	chr11	70319395	70319395	+	Missense_Mutation	SNP	G	G	A													tctctgttggcgagaccacaGggcttggggcacgtcttgtt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70319395G>A	ENST00000338508.4	-	33	5131	c.5132C>T	c.(5131-5133)cCt>cTt	p.P1711L	SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115L|SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114L|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1331L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1331					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGAGACCACAGGGCTTGGGGC	0.622													False	0	True	11:70319395	0	A	70319395	G	A	70319395	3	1	88	1	0	0	0	0	1	0	0	0	14346	1000	35	2	424	2	SHANK2	11	70319395	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63327	70319395	64687121	11968	19680	222	2									
SHANK2	22941	broad.mit.edu	37	chr11	70319396	70319396	+	Missense_Mutation	SNP	G	G	T													ctctgttggcgagaccacagGgcttggggcacgtcttgttc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70319396G>T	ENST00000338508.4	-	33	5130	c.5131C>A	c.(5131-5133)Cct>Act	p.P1711T	SHANK2_ENST00000449833.2_Missense_Mutation_p.P1115T|SHANK2_ENST00000409161.1_Missense_Mutation_p.P1114T|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1331T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1331					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGACCACAGGGCTTGGGGCA	0.627													False	0	True	11:70319396	0	T	70319396	G	T	70319396	3	4	88	1	0	0	0	0	1	0	0	0	14346	1232	43	3	425	3	SHANK2	11	70319396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	70319396	64687120	11969	19681	222	2									
SHANK2	22941	broad.mit.edu	37	chr11	70332710	70332710	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctttgggtccctgttgagActccttcatggctcggtccc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70332710A>C	ENST00000338508.4	-	32	3690	c.3691T>G	c.(3691-3693)Tct>Gct	p.S1231A	SHANK2_ENST00000449833.2_Missense_Mutation_p.S635A|SHANK2_ENST00000409161.1_Missense_Mutation_p.S634A|SHANK2_ENST00000423696.2_Missense_Mutation_p.S851A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	851					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCTGTTGAGACTCCTTCATG	0.622													False	0	False	11:70332710	0	C	70332710	A	C	70332710	3	2	88	1	0	0	0	0	1	0	0	0	14346	275	10	4	1869	4	SHANK2	11	70332710	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13314	70332710	64673806	11970	19682											
SHANK2	22941	broad.mit.edu	37	chr11	70333167	70333167	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggcgatggcggcggcaaaGgggctgctgacggtcaggct	19	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70333167G>T	ENST00000338508.4	-	32	3233	c.3234C>A	c.(3232-3234)ccC>ccA	p.P1078P	SHANK2_ENST00000449833.2_Silent_p.P482P|SHANK2_ENST00000409161.1_Silent_p.P481P|SHANK2_ENST00000423696.2_Silent_p.P698P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	698					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGGCGGCAAAGGGGCTGCTGA	0.701													False	0	True	11:70333167	0	T	70333167	G	T	70333167	2	4	88	1	0	0	0	0	0	0	0	1	14346	987	35	3		3	SHANK2	11	70333167	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457	70333167	64673349	11971	19683											
DHCR7	1717	broad.mit.edu	37	chr11	71146496	71146496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggccgtacttgctggcGcagcggtgctcgtcccggag	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71146496G>A	ENST00000355527.3	-	9	1629	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	DHCR7_ENST00000407721.2_Silent_p.C451C	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	451					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	ACTTGCTGGCGCAGCGGTGCT	0.662									Smith-Lemli-Opitz syndrome				False	0	False	11:71146496	0	A	71146496	G	A	71146496	2	1	88	1	0	0	0	0	0	0	0	1	4507	1079	38	1		1	DHCR7	11	71146496	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	813329	71146496	63860020	11972	19684											
DHCR7	1717	broad.mit.edu	37	chr11	71148891	71148891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agataaggcagccagacacaGtcgccccagcccaggtacca	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71148891G>T	ENST00000355527.3	-	8	1206	c.930C>A	c.(928-930)gaC>gaA	p.D310E	DHCR7_ENST00000407721.2_Missense_Mutation_p.D310E	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	310					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GCCAGACACAGTCGCCCCAGC	0.557									Smith-Lemli-Opitz syndrome				False	0	False	11:71148891	0	T	71148891	G	T	71148891	3	4	88	1	0	0	0	0	1	0	0	0	4507	1020	36	3	505	3	DHCR7	11	71148891	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2395	71148891	63857625	11973	19685											
DHCR7	1717	broad.mit.edu	37	chr11	71152458	71152458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggagccaggcttgcagGccattgatctgatacttgtt	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71152458G>A	ENST00000355527.3	-	6	717	c.441C>T	c.(439-441)ggC>ggT	p.G147G	DHCR7_ENST00000407721.2_Silent_p.G147G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	147			G -> D (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AGGCTTGCAGGCCATTGATCT	0.547									Smith-Lemli-Opitz syndrome				False	0	False	11:71152458	0	A	71152458	G	A	71152458	2	1	88	1	0	0	0	0	0	0	0	1	4507	1190	42	2		2	DHCR7	11	71152458	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3567	71152458	63854058	11974	19686											
NADSYN1	55191	broad.mit.edu	37	chr11	71183494	71183494	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcggtgttttcctctccaGgcacacagaggagtactttc	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71183494G>T	ENST00000319023.2	+	6	595		c.e6-1			NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1						NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTCCTCTCCAGGCACACAGAG	0.512													False	0	False	11:71183494	0	T	71183494	G	T	71183494	5	4	88	1	0	0	0	0	0	0	1	0	10205	1014	35	3	429	3	NADSYN1	11	71183494	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31036	71183494	63823022	11975	19687											
NADSYN1	55191	broad.mit.edu	37	chr11	71183521	71183521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggagtactttctgcctcGgatgatacaggacctgacaa	11	9	1	3	rs141650373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71183521G>A	ENST00000319023.2	+	6	622	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	145	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTCTGCCTCGGATGATACAG	0.547													False	0	False	11:71183521	0	A	71183521	G	A	71183521	3	1	88	1	0	0	0	0	1	0	0	0	10205	1116	39	1	456	1	NADSYN1	11	71183521	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27	71183521	63822995	11976	19688											
NADSYN1	55191	broad.mit.edu	37	chr11	71184618	71184618	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctctgcctgcagcccGcacatcgacatgggcctgga	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71184618G>A	ENST00000319023.2	+	8	740	c.552G>A	c.(550-552)ccG>ccA	p.P184P		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	184	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTGCAGCCCGCACATCGACA	0.637													False	0	True	11:71184618	0	A	71184618	G	A	71184618	2	1	88	1	0	0	0	0	0	0	0	1	10205	1074	38	1		1	NADSYN1	11	71184618	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1097	71184618	63821898	11977	19689											
NADSYN1	55191	broad.mit.edu	37	chr11	71208551	71208551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatatggggatgacatatgCggagctctcggtctatggga	15	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71208551C>T	ENST00000319023.2	+	19	1975	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	NADSYN1_ENST00000530055.1_Missense_Mutation_p.A225V|NADSYN1_ENST00000539574.1_Missense_Mutation_p.A336V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	596	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATGACATATGCGGAGCTCTCG	0.527													False	0	False	11:71208551	0	T	71208551	C	T	71208551	3	4	88	1	0	0	0	0	1	0	0	0	10205	768	27	1	1861	1	NADSYN1	11	71208551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23933	71208551	63797965	11978	19690											
NUMA1	0	broad.mit.edu	37	chr11	71715829	71715829	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggggtctccagttttcatctCctcatctgtgatggtgccca	10	12	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71715829C>A	ENST00000393695.3	-	24	6194	c.5863G>T	c.(5863-5865)Gag>Tag	p.E1955*	NUMA1_ENST00000358965.6_Nonsense_Mutation_p.E1941*|NUMA1_ENST00000351960.6_Nonsense_Mutation_p.E819*	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1955					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GTTTTCATCTCCTCATCTGTG	0.607			T	RARA	APL								False	0	False	11:71715829	0	A	71715829	C	A	71715829	4	1	88	1	0	0	0	0	0	1	0	0	10818	864	30	3	500	3	NUMA1	11	71715829	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	507278	71715829	63290687	11979	19691											
NUMA1	0	broad.mit.edu	37	chr11	71720154	71720154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgttttccttctgcagctgCtccaggctccgcagctgctc	9	15	1	0	rs148604464		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71720154C>A	ENST00000393695.3	-	19	5248	c.4917G>T	c.(4915-4917)gaG>gaT	p.E1639D	NUMA1_ENST00000358965.6_Missense_Mutation_p.E1625D|NUMA1_ENST00000351960.6_Missense_Mutation_p.E503D	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1639					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCTGCAGCTGCTCCAGGCTCC	0.567			T	RARA	APL								False	0	False	11:71720154	0	A	71720154	C	A	71720154	3	1	88	1	0	0	0	0	1	0	0	0	10818	796	28	3	1466	3	NUMA1	11	71720154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4325	71720154	63286362	11980	19692											
NUMA1	0	broad.mit.edu	37	chr11	71726974	71726974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctctttggcctgctgCttcaggccagccagttcttg	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71726974C>T	ENST00000393695.3	-	15	1906	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	NUMA1_ENST00000358965.6_Silent_p.K525K|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	525					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGCCTGCTGCTTCAGGCCAG	0.607			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:71726974	0	T	71726974	C	T	71726974	2	4	88	1	0	0	0	0	0	0	0	1	10818	796	28	2		2	NUMA1	11	71726974	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6820	71726974	63279542	11981	19693											
NUMA1	0	broad.mit.edu	37	chr11	71735344	71735344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaaaactgcacacaaagtCcagtctctctgacaccggct	7	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71735344C>T	ENST00000393695.3	-	5	515	c.184G>A	c.(184-186)Gac>Aac	p.D62N	NUMA1_ENST00000358965.6_Missense_Mutation_p.D62N|NUMA1_ENST00000351960.6_Missense_Mutation_p.D62N	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	62					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CACACAAAGTCCAGTCTCTCT	0.468			T	RARA	APL								False	0	False	11:71735344	0	T	71735344	C	T	71735344	3	4	88	1	0	0	0	0	1	0	0	0	10818	855	30	2	6255	2	NUMA1	11	71735344	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8370	71735344	63271172	11982	19694											
LRTOMT	220074	broad.mit.edu	37	chr11	71806076	71806076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggaggtgaataagctggCtgtccttcctcggctccgta	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71806076C>T	ENST00000324866.7	+	5	537	c.371C>T	c.(370-372)gCt>gTt	p.A124V	LRTOMT_ENST00000538478.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000440313.2_5'UTR|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000289488.2_Missense_Mutation_p.A124V|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000423494.2_Missense_Mutation_p.A106V|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000447974.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000439209.1_Missense_Mutation_p.A124V|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000536917.1_Missense_Mutation_p.A124V|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000539587.1_5'UTR|LRTOMT_ENST00000541614.1_Missense_Mutation_p.A124V			Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	124						cytoplasm				large_intestine(2)|lung(1)|ovary(1)	4						AATAAGCTGGCTGTCCTTCCT	0.562													False	0	True	11:71806076	0	T	71806076	C	T	71806076	3	4	88	1	0	0	0	0	1	0	0	0	9108	797	28	2	381	2	LRTOMT	11	71806076	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70732	71806076	63200440	11983	19695											
FOLR3	2352	broad.mit.edu	37	chr11	71850696	71850696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacttccccactccagccGccctttgtgaaggcctctgg	8	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71850696G>A	ENST00000445078.2	+	5	750	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	FOLR3_ENST00000442948.2_Missense_Mutation_p.A186T|FOLR3_ENST00000456237.1_Missense_Mutation_p.A229T			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	185					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CACTCCAGCCGCCCTTTGTGA	0.587													False	0	True	11:71850696	0	A	71850696	G	A	71850696	3	1	88	1	0	0	0	0	1	0	0	0	6023	1087	38	1	571	1	FOLR3	11	71850696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44620	71850696	63155820	11984	19696											
FOLR3	2352	broad.mit.edu	37	chr11	71850826	71850826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtggccaagttctatgCtgcggccatgaatgctgggg	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71850826C>T	ENST00000445078.2	+	5	880	c.809C>T	c.(808-810)gCt>gTt	p.A270V	FOLR3_ENST00000442948.2_Missense_Mutation_p.A229V|FOLR3_ENST00000456237.1_Missense_Mutation_p.A272V			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	228					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AAGTTCTATGCTGCGGCCATG	0.532													False	0	False	11:71850826	0	T	71850826	C	T	71850826	3	4	88	1	0	0	0	0	1	0	0	0	6023	797	28	2	701	2	FOLR3	11	71850826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130	71850826	63155690	11985	19697											
FOLR1	2348	broad.mit.edu	37	chr11	71906964	71906964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaacaagtgcgcagtgggaGctgcctgccaacctttccat	10	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71906964G>A	ENST00000393679.1	+	5	953	c.517G>A	c.(517-519)Gct>Act	p.A173T	FOLR1_ENST00000393681.2_Missense_Mutation_p.A173T|FOLR1_ENST00000393676.3_Missense_Mutation_p.A173T|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Missense_Mutation_p.A173T			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	173					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CGCAGTGGGAGCTGCCTGCCA	0.527													False	0	True	11:71906964	0	A	71906964	G	A	71906964	3	1	88	1	0	0	0	0	1	0	0	0	6021	971	34	2	531	2	FOLR1	11	71906964	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56138	71906964	63099552	11986	19698											
INPPL1	3636	broad.mit.edu	37	chr11	71941873	71941873	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgccagctgttgcagctcAtgaagaacaagcactccaag	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71941873A>G	ENST00000298229.2	+	11	1435	c.1231A>G	c.(1231-1233)Atg>Gtg	p.M411V	INPPL1_ENST00000538751.1_Missense_Mutation_p.M169V|INPPL1_ENST00000541756.1_Missense_Mutation_p.M169V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	411					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTTGCAGCTCATGAAGAACAA	0.637													False	0	False	11:71941873	0	G	71941873	A	G	71941873	3	3	88	1	0	0	0	0	1	0	0	0	7811	217	8	4	1273	4	INPPL1	11	71941873	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34909	71941873	63064643	11987	19699											
INPPL1	3636	broad.mit.edu	37	chr11	71948167	71948167	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgttctgcttccacacccaGgttgaagccagagggagctc	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71948167G>T	ENST00000298229.2	+	26	3083		c.e26-1		INPPL1_ENST00000538751.1_Splice_Site|INPPL1_ENST00000541756.1_Splice_Site	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1						actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCACACCCAGGTTGAAGCCA	0.582													False	0	False	11:71948167	0	T	71948167	G	T	71948167	5	4	88	1	0	0	0	0	0	0	1	0	7811	1014	35	3	2981	3	INPPL1	11	71948167	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6294	71948167	63058349	11988	19700											
CLPB	81570	broad.mit.edu	37	chr11	72145200	72145200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccggccctgctggggaCcccgttccagctgtcctgtc	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72145200C>T	ENST00000294053.3	-	1	492	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000340729.5_Missense_Mutation_p.V107I|CLPB_ENST00000437826.2_Missense_Mutation_p.G26D|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000538039.1_Missense_Mutation_p.V107I	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	107					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CTGCTGGGGACCCCGTTCCAG	0.622											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:72145200	0	T	72145200	C	T	72145200	3	4	88	1	0	0	0	0	1	0	0	0	3574	507	18	2	1872	2	CLPB	11	72145200	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197033	72145200	62861316	11989	19701											
PDE2A	5138	broad.mit.edu	37	chr11	72299898	72299898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcccggctgatgacagGgacacagagcatggcctgca	15	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72299898G>A	ENST00000334456.5	-	13	1245	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Missense_Mutation_p.P327S|PDE2A_ENST00000418754.2_Missense_Mutation_p.P219S|PDE2A_ENST00000444035.2_Missense_Mutation_p.P325S|PDE2A_ENST00000540345.1_Missense_Mutation_p.P325S	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	334	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CTGATGACAGGGACACAGAGC	0.592													False	0	True	11:72299898	0	A	72299898	G	A	72299898	3	1	88	1	0	0	0	0	1	0	0	0	11704	1232	43	2	1901	2	PDE2A	11	72299898	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154698	72299898	62706618	11990	19702											
ARAP1	116985	broad.mit.edu	37	chr11	72408500	72408500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccccagccaacccatgaagtCcagccgccgctcgccctgta	8	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72408500C>A	ENST00000359373.5	-	21	3672	c.2821G>T	c.(2821-2823)Gac>Tac	p.D941Y	ARAP1_ENST00000393605.3_Missense_Mutation_p.D701Y|ARAP1_ENST00000334211.8_Missense_Mutation_p.D696Y|ARAP1_ENST00000426523.1_Missense_Mutation_p.D696Y|ARAP1_ENST00000393609.3_Missense_Mutation_p.D941Y|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.D941Y|ARAP1_ENST00000429686.1_Missense_Mutation_p.D635Y			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	941					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCATGAAGTCCAGCCGCCGC	0.637													False	0	False	11:72408500	0	A	72408500	C	A	72408500	3	1	88	1	0	0	0	0	1	0	0	0	840	855	30	3	1591	3	ARAP1	11	72408500	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108602	72408500	62598016	11991	19703											
ARAP1	116985	broad.mit.edu	37	chr11	72423582	72423582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagactggccacgcgcacgGcccgtgggactcggctcggt	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72423582G>A	ENST00000359373.5	-	6	1630	c.779C>T	c.(778-780)gCc>gTc	p.A260V	ARAP1_ENST00000393605.3_Missense_Mutation_p.A20V|ARAP1_ENST00000334211.8_Missense_Mutation_p.A15V|ARAP1_ENST00000426523.1_Missense_Mutation_p.A15V|ARAP1_ENST00000393609.3_Missense_Mutation_p.A260V|ARAP1_ENST00000455638.2_Missense_Mutation_p.A260V|ARAP1_ENST00000429686.1_Missense_Mutation_p.A15V			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	260					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACGCGCACGGCCCGTGGGAC	0.667													False	0	True	11:72423582	0	A	72423582	G	A	72423582	3	1	88	1	0	0	0	0	1	0	0	0	840	1203	42	2	3693	2	ARAP1	11	72423582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15082	72423582	62582934	11992	19704											
FCHSD2	9873	broad.mit.edu	37	chr11	72578921	72578921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatcgtaccgagtgtaaagTgccattactggtcactgcag	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72578921T>C	ENST00000409314.1	-	14	1537	c.1369A>G	c.(1369-1371)Act>Gct	p.T457A	FCHSD2_ENST00000458644.2_Missense_Mutation_p.T297A|FCHSD2_ENST00000409418.4_Missense_Mutation_p.T433A|FCHSD2_ENST00000311172.7_Missense_Mutation_p.T377A|FCHSD2_ENST00000409853.1_Missense_Mutation_p.T377A			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	433							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GAGTGTAAAGTGCCATTACTG	0.418													False	0	False	11:72578921	0	C	72578921	T	C	72578921	3	2	88	1	0	0	0	0	1	0	0	0	5830	1696	59	4	957	4	FCHSD2	11	72578921	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	155339	72578921	62427595	11993	19705											
P2RY2	5029	broad.mit.edu	37	chr11	72945946	72945946	+	Missense_Mutation	SNP	G	G	A													gcaagtccgtgcgcaccatcGccgtggtgctggctgtcttc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72945946G>A	ENST00000311131.2	+	3	1209	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	P2RY2_ENST00000393596.2_Missense_Mutation_p.A248T|P2RY2_ENST00000393597.2_Missense_Mutation_p.A248T	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	248					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCGCACCATCGCCGTGGTGCT	0.647													False	0	False	11:72945946	0	A	72945946	G	A	72945946	3	1	88	1	0	0	0	0	1	0	0	0	11420	1087	38	1	744	1	P2RY2	11	72945946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367025	72945946	62060570	11994	19706	223	2									
P2RY2	5029	broad.mit.edu	37	chr11	72945948	72945948	+	Silent	SNP	C	C	T													aagtccgtgcgcaccatcgcCgtggtgctggctgtcttcgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72945948C>T	ENST00000311131.2	+	3	1211	c.744C>T	c.(742-744)gcC>gcT	p.A248A	P2RY2_ENST00000393596.2_Silent_p.A248A|P2RY2_ENST00000393597.2_Silent_p.A248A	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	248					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCACCATCGCCGTGGTGCTGG	0.642													False	0	False	11:72945948	0	T	72945948	C	T	72945948	2	4	88	1	0	0	0	0	0	0	0	1	11420	639	23	1		1	P2RY2	11	72945948	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2	72945948	62060568	11995	19707	223	2									
ARHGEF17	9828	broad.mit.edu	37	chr11	73020891	73020891	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagaccctcaaggacgacgAcctatggtctagtaggggtt	14	9	2	1	rs149459553		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73020891A>T	ENST00000263674.3	+	1	1558	c.1208A>T	c.(1207-1209)gAc>gTc	p.D403V		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	403					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AAGGACGACGACCTATGGTCT	0.657													False	0	True	11:73020891	0	T	73020891	A	T	73020891	3	4	88	1	0	0	0	0	1	0	0	0	902	275	10	5	1210	5	ARHGEF17	11	73020891	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	74943	73020891	61985625	11996	19708											
ARHGEF17	9828	broad.mit.edu	37	chr11	73074371	73074371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtccctgcggcaccaGcccaatggatgggagagccc	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73074371G>A	ENST00000263674.3	+	15	5467	c.5117G>A	c.(5116-5118)aGc>aAc	p.S1706N		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1706					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCGGCACCAGCCCAATGGAT	0.667													False	0	True	11:73074371	0	A	73074371	G	A	73074371	3	1	88	1	0	0	0	0	1	0	0	0	902	971	34	2	5175	2	ARHGEF17	11	73074371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53480	73074371	61932145	11997	19709											
RELT	84957	broad.mit.edu	37	chr11	73103471	73103471	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagggctaccactgcacgGcgcacaaggaggtcgggccc	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73103471G>A	ENST00000064780.2	+	6	844	c.583G>A	c.(583-585)Gcg>Acg	p.A195T	RELT_ENST00000393580.2_Missense_Mutation_p.A195T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	195						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CCACTGCACGGCGCACAAGGA	0.682													False	0	False	11:73103471	0	A	73103471	G	A	73103471	3	1	88	1	0	0	0	0	1	0	0	0	13300	1203	42	2	601	2	RELT	11	73103471	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29100	73103471	61903045	11998	19710											
PLEKHB1	58473	broad.mit.edu	37	chr11	73372564	73372564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccctgctacagcgccggcGcccctctggccatgggcatg	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73372564G>A	ENST00000354190.5	+	8	1080	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	PLEKHB1_ENST00000398492.4_Missense_Mutation_p.A182T|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.A198T|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.A112T|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.A163T|PLEKHB1_ENST00000535129.1_Missense_Mutation_p.A163T	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	217					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CAGCGCCGGCGCCCCTCTGGC	0.682											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:73372564	0	A	73372564	G	A	73372564	3	1	88	1	0	0	0	0	1	0	0	0	12133	1087	38	1	679	1	PLEKHB1	11	73372564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	269093	73372564	61633952	11999	19711											
MRPL48	51642	broad.mit.edu	37	chr11	73555945	73555945	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atattcatctgactgcatatGatatgaccctggcagagagt	9	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73555945G>A	ENST00000535529.1	+	6	453	c.241G>A	c.(241-243)Gat>Aat	p.D81N	MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000310614.7_Missense_Mutation_p.D99N|MRPL48_ENST00000314282.7_5'UTR			Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	99					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						GACTGCATATGATATGACCCT	0.418													False	0	True	11:73555945	0	A	73555945	G	A	73555945	3	1	88	1	0	0	0	0	1	0	0	0	9879	1290	45	2	313	2	MRPL48	11	73555945	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183381	73555945	61450571	12000	19712											
MRPL48	51642	broad.mit.edu	37	chr11	73571043	73571043	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcttaccacccatgagCgagtggttcaggtaggcact	12	11	1	1	rs137907774	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73571043C>T	ENST00000314282.7	+	3	1517	c.166C>T	c.(166-168)Cga>Tga	p.R56*	MRPL48_ENST00000398483.3_Nonsense_Mutation_p.R56*|MRPL48_ENST00000411840.2_Nonsense_Mutation_p.R56*|MRPL48_ENST00000535529.1_Nonsense_Mutation_p.R137*|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000310614.7_Nonsense_Mutation_p.R155*			Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	155					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						CACCCATGAGCGAGTGGTTCA	0.438													False	0	False	11:73571043	0	T	73571043	C	T	73571043	4	4	88	1	0	0	0	0	0	1	0	0	9879	760	27	1	485	1	MRPL48	11	73571043	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15098	73571043	61435473	12001	19713											
MRPL48	51642	broad.mit.edu	37	chr11	73575366	73575366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagaagacttcaagggacGattcaaagctcgaccagaac	10	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73575366G>A	ENST00000314282.7	+	5	1644	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	MRPL48_ENST00000398483.3_Missense_Mutation_p.R98Q|MRPL48_ENST00000411840.2_Missense_Mutation_p.R98Q|MRPL48_ENST00000535529.1_Missense_Mutation_p.R179Q|MRPL48_ENST00000542303.1_Missense_Mutation_p.R106Q|MRPL48_ENST00000310614.7_Missense_Mutation_p.R197Q			Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	197					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						TTCAAGGGACGATTCAAAGCT	0.433													False	0	False	11:73575366	0	A	73575366	G	A	73575366	3	1	88	1	0	0	0	0	1	0	0	0	9879	1058	37	1	620	1	MRPL48	11	73575366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4323	73575366	61431150	12002	19714											
PAAF1	80227	broad.mit.edu	37	chr11	73630036	73630036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatcaggagcaccagttcTatccctgctaagtgtcagag	10	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73630036T>C	ENST00000544909.1	+	8	1237	c.980T>C	c.(979-981)cTa>cCa	p.L327P	PAAF1_ENST00000535604.1_Missense_Mutation_p.L211P|PAAF1_ENST00000544552.1_Missense_Mutation_p.L309P|PAAF1_ENST00000541951.1_Missense_Mutation_p.L211P|PAAF1_ENST00000376384.5_Missense_Mutation_p.L309P|PAAF1_ENST00000310571.3_Missense_Mutation_p.L326P|PAAF1_ENST00000536003.1_Missense_Mutation_p.L309P			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	326					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GCACCAGTTCTATCCCTGCTA	0.428													False	0	False	11:73630036	0	C	73630036	T	C	73630036	3	2	88	1	0	0	0	0	1	0	0	0	11430	1522	53	4	1015	4	PAAF1	11	73630036	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	54670	73630036	61376480	12003	19715											
UCP3	7352	broad.mit.edu	37	chr11	73712499	73712499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggactttcatcagggcCcgtttcagctgctcataggt	10	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73712499C>T	ENST00000314032.4	-	7	1449	c.897G>A	c.(895-897)cgG>cgA	p.R299R	UCP3_ENST00000348534.4_Silent_p.R197R	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	299	Purine nucleotide binding (By similarity).				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCATCAGGGCCCGTTTCAGCT	0.453													False	0	True	11:73712499	0	T	73712499	C	T	73712499	2	4	88	1	0	0	0	0	0	0	0	1	17016	610	22	2		2	UCP3	11	73712499	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82463	73712499	61294017	12004	19716											
UCP3	7352	broad.mit.edu	37	chr11	73714966	73714966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtgagttcatataccGggtcttcaccacgtccaccg	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73714966G>A	ENST00000314032.4	-	6	1282	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	UCP3_ENST00000348534.4_Missense_Mutation_p.R142W|UCP3_ENST00000426995.2_Missense_Mutation_p.R244W	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	244					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TTCATATACCGGGTCTTCACC	0.592													False	0	True	11:73714966	0	A	73714966	G	A	73714966	3	1	88	1	0	0	0	0	1	0	0	0	17016	1115	39	1	220	1	UCP3	11	73714966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2467	73714966	61291550	12005	19717											
C2CD3	26005	broad.mit.edu	37	chr11	73768505	73768505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgttttcaaccacttggGtgtatacaggagatgactca	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73768505G>T	ENST00000334126.7	-	25	5262	c.5036C>A	c.(5035-5037)aCc>aAc	p.T1679N	C2CD3_ENST00000313663.7_Missense_Mutation_p.T1679N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1679	C2 2.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACCACTTGGGTGTATACAGG	0.443													False	0	True	11:73768505	0	T	73768505	G	T	73768505	3	4	88	1	0	0	0	0	1	0	0	0	2170	1261	44	3	883	3	C2CD3	11	73768505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53539	73768505	61238011	12006	19718											
C2CD3	26005	broad.mit.edu	37	chr11	73789414	73789414	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attccttaggcttcttgagaGgggtccaaaaggcttcatga	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73789414G>T	ENST00000334126.7	-	23	4575	c.4349C>A	c.(4348-4350)cCt>cAt	p.P1450H	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1450H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1450						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTTCTTGAGAGGGGTCCAAAA	0.453													False	0	True	11:73789414	0	T	73789414	G	T	73789414	3	4	88	1	0	0	0	0	1	0	0	0	2170	1000	35	3	1578	3	C2CD3	11	73789414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20909	73789414	61217102	12007	19719											
C2CD3	26005	broad.mit.edu	37	chr11	73803472	73803472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattacctgatgactggTtcctcaattctttcctgttc	5	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73803472T>C	ENST00000334126.7	-	19	3732	c.3506A>G	c.(3505-3507)aAc>aGc	p.N1169S	C2CD3_ENST00000313663.7_Missense_Mutation_p.N1169S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1169	C2 1.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGATGACTGGTTCCTCAATTC	0.398													False	0	False	11:73803472	0	C	73803472	T	C	73803472	3	2	88	1	0	0	0	0	1	0	0	0	2170	1725	60	4	2437	4	C2CD3	11	73803472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14058	73803472	61203044	12008	19720											
C2CD3	26005	broad.mit.edu	37	chr11	73809190	73809190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacccatagctaaaaagactCgaagactcccattttggtgg	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73809190C>T	ENST00000334126.7	-	16	3069	c.2843G>A	c.(2842-2844)cGa>cAa	p.R948Q	C2CD3_ENST00000313663.7_Missense_Mutation_p.R948Q			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	948						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TAAAAAGACTCGAAGACTCCC	0.468													False	0	False	11:73809190	0	T	73809190	C	T	73809190	3	4	88	1	0	0	0	0	1	0	0	0	2170	884	31	1	3112	1	C2CD3	11	73809190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5718	73809190	61197326	12009	19721											
C2CD3	26005	broad.mit.edu	37	chr11	73814404	73814404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaaattatgggaggctggCgtagctacgaaggttgaagg	15	5	0	1	rs147082398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73814404C>T	ENST00000334126.7	-	14	2578	c.2352G>A	c.(2350-2352)acG>acA	p.T784T	C2CD3_ENST00000313663.7_Silent_p.T784T			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	784						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGGAGGCTGGCGTAGCTACGA	0.458													False	0	False	11:73814404	0	T	73814404	C	T	73814404	2	4	88	1	0	0	0	0	0	0	0	1	2170	755	27	1		1	C2CD3	11	73814404	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5214	73814404	61192112	12010	19722											
C2CD3	26005	broad.mit.edu	37	chr11	73814473	73814473	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cggttggggagcaccaagttCtgtgctttctttgcagtttc	12	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73814473C>A	ENST00000334126.7	-	14	2509	c.2283G>T	c.(2281-2283)caG>caT	p.Q761H	C2CD3_ENST00000313663.7_Missense_Mutation_p.Q761H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	761						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCACCAAGTTCTGTGCTTTCT	0.438													False	0	False	11:73814473	0	A	73814473	C	A	73814473	3	1	88	1	0	0	0	0	1	0	0	0	2170	912	32	3	3680	3	C2CD3	11	73814473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	73814473	61192043	12011	19723											
C2CD3	26005	broad.mit.edu	37	chr11	73850003	73850003	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgcaaagcatacatgGtcttttcccctgttttttta	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73850003G>T	ENST00000334126.7	-	5	943	c.717C>A	c.(715-717)gaC>gaA	p.D239E	C2CD3_ENST00000313663.7_Missense_Mutation_p.D239E|C2CD3_ENST00000539061.1_Missense_Mutation_p.D239E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	239						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGCATACATGGTCTTTTCCCC	0.363													False	0	False	11:73850003	0	T	73850003	G	T	73850003	3	4	88	1	0	0	0	0	1	0	0	0	2170	1252	44	3	5282	3	C2CD3	11	73850003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35530	73850003	61156513	12012	19724											
P4HA3	283208	broad.mit.edu	37	chr11	73980723	73980723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggcacgctgaggttggCatagatgaaggctgtggctc	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73980723C>T	ENST00000331597.4	-	11	1486	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	P4HA3_ENST00000427714.2_Missense_Mutation_p.A481T	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	481	Fe2OG dioxygenase.					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTGAGGTTGGCATAGATGAAG	0.582													False	0	False	11:73980723	0	T	73980723	C	T	73980723	3	4	88	1	0	0	0	0	1	0	0	0	11426	710	25	2	205	2	P4HA3	11	73980723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130720	73980723	61025793	12013	19725											
PGM2L1	283209	broad.mit.edu	37	chr11	74049647	74049647	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttactcacaggcagcacCtatgcaaaatggcaacaaca	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74049647C>A	ENST00000298198.4	-	13	1944		c.e13-1			NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1						glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CAGGCAGCACCTATGCAAAAT	0.343													False	0	False	11:74049647	0	A	74049647	C	A	74049647	5	1	88	1	0	0	0	0	0	0	1	0	11868	695	24	3	244	3	PGM2L1	11	74049647	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68924	74049647	60956869	12014	19726											
PGM2L1	283209	broad.mit.edu	37	chr11	74054391	74054391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagactcttcaaatgcaaaaAggacttctttcccattttcc	4	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74054391A>G	ENST00000298198.4	-	10	1600	c.1289T>C	c.(1288-1290)cTt>cCt	p.L430P		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	430					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AAATGCAAAAAGGACTTCTTT	0.318													False	0	True	11:74054391	0	G	74054391	A	G	74054391	3	3	88	1	0	0	0	0	1	0	0	0	11868	72	3	4	599	4	PGM2L1	11	74054391	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4744	74054391	60952125	12015	19727											
CHRDL2	25884	broad.mit.edu	37	chr11	74417568	74417568	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacactgtcctcttcatcCgattgctcacttgcctcatc	5	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74417568C>T	ENST00000376332.3	-	6	1042	c.546G>A	c.(544-546)tcG>tcA	p.S182S	CHRDL2_ENST00000263671.5_Silent_p.S182S|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	182					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCTCTTCATCCGATTGCTCAC	0.602													False	0	False	11:74417568	0	T	74417568	C	T	74417568	2	4	88	1	0	0	0	0	0	0	0	1	3397	639	23	1		1	CHRDL2	11	74417568	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	363177	74417568	60588948	12016	19728											
CHRDL2	25884	broad.mit.edu	37	chr11	74424519	74424519	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcggtaacaactcacatgGgcgccctgaaggggacacaa	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74424519G>T	ENST00000376332.3	-	3	697	c.201C>A	c.(199-201)gcC>gcA	p.A67A	CHRDL2_ENST00000263671.5_Silent_p.A67A|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	67	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AACTCACATGGGCGCCCTGAA	0.577													False	0	True	11:74424519	0	T	74424519	G	T	74424519	2	4	88	1	0	0	0	0	0	0	0	1	3397	1219	43	3		3	CHRDL2	11	74424519	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6951	74424519	60581997	12017	19729											
RNF169	254225	broad.mit.edu	37	chr11	74545772	74545772	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgtagtgacacagcccaGgaaagagcgaagagcagagt	14	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74545772G>T	ENST00000299563.4	+	5	907	c.894G>T	c.(892-894)caG>caT	p.Q298H		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	298							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACACAGCCCAGGAAAGAGCGA	0.478													False	0	False	11:74545772	0	T	74545772	G	T	74545772	3	4	88	1	0	0	0	0	1	0	0	0	13539	991	35	3	912	3	RNF169	11	74545772	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121253	74545772	60460744	12018	19730											
XRRA1	143570	broad.mit.edu	37	chr11	74570255	74570255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaagggtggggccagcGtctggttcctggccttcagt	17	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74570255G>A	ENST00000340360.6	-	12	1425	c.1094C>T	c.(1093-1095)aCg>aTg	p.T365M	XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000527087.1_Intron	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	365					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGGGGCCAGCGTCTGGTTCCT	0.498													False	0	False	11:74570255	0	A	74570255	G	A	74570255	3	1	88	1	0	0	0	0	1	0	0	0	17545	1145	40	1	1316	1	XRRA1	11	74570255	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24483	74570255	60436261	12019	19731											
XRRA1	143570	broad.mit.edu	37	chr11	74617337	74617337	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagtataatccagttgctcaTctgagtcctcaagcatcctt	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74617337T>A	ENST00000340360.6	-	10	1257	c.926A>T	c.(925-927)gAt>gTt	p.D309V	XRRA1_ENST00000321448.8_Missense_Mutation_p.D76V|XRRA1_ENST00000527087.1_Missense_Mutation_p.D309V|RP11-147I3.1_ENST00000533875.1_RNA	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	309					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CAGTTGCTCATCTGAGTCCTC	0.498													False	0	False	11:74617337	0	A	74617337	T	A	74617337	3	1	88	1	0	0	0	0	1	0	0	0	17545	1435	50	5	1492	5	XRRA1	11	74617337	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47082	74617337	60389179	12020	19732											
SLCO2B1	11309	broad.mit.edu	37	chr11	74914430	74914430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccctgagctgtgggcgtcGagctgtctgtcgctactaca	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74914430G>A	ENST00000289575.5	+	13	2302	c.1907G>A	c.(1906-1908)cGa>cAa	p.R636Q	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R614Q|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R492Q|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R409Q|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R520Q|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R409Q	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	636					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TGTGGGCGTCGAGCTGTCTGT	0.607													False	0	False	11:74914430	0	A	74914430	G	A	74914430	3	1	88	1	0	0	0	0	1	0	0	0	14807	1058	37	1	1957	1	SLCO2B1	11	74914430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297093	74914430	60092086	12021	19733											
ARRB1	408	broad.mit.edu	37	chr11	74994458	74994458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccacaaacaggtccttgCgaaaggtcaggcccaggaca	12	12	1	0	rs148019407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74994458C>T	ENST00000420843.2	-	5	324	c.227G>A	c.(226-228)cGc>cAc	p.R76H	ARRB1_ENST00000393505.4_Missense_Mutation_p.R76H|ARRB1_ENST00000360025.3_Missense_Mutation_p.R76H	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	76	Interaction with CHRM2 (By similarity).|Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CAGGTCCTTGCGAAAGGTCAG	0.642													False	0	False	11:74994458	0	T	74994458	C	T	74994458	3	4	88	1	0	0	0	0	1	0	0	0	984	768	27	1	1077	1	ARRB1	11	74994458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80028	74994458	60012058	12022	19734											
GDPD5	81544	broad.mit.edu	37	chr11	75153439	75153439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaagccggagtgcagcacgGcctccagagtcacgttgata	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75153439G>T	ENST00000526177.1	-	8	2600	c.722C>A	c.(721-723)gCc>gAc	p.A241D	GDPD5_ENST00000336898.3_Missense_Mutation_p.A379D|GDPD5_ENST00000529721.1_Missense_Mutation_p.A379D|GDPD5_ENST00000533784.1_Missense_Mutation_p.A260D|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.A134D|GDPD5_ENST00000376282.3_Missense_Mutation_p.A260D			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	379	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GTGCAGCACGGCCTCCAGAGT	0.672													False	0	False	11:75153439	0	T	75153439	G	T	75153439	3	4	88	1	0	0	0	0	1	0	0	0	6372	1203	42	3	705	3	GDPD5	11	75153439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158981	75153439	59853077	12023	19735											
GDPD5	81544	broad.mit.edu	37	chr11	75153542	75153542	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccttggccagctccaggaGctctgccaggctgcagatgg	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75153542G>T	ENST00000526177.1	-	8	2497	c.619C>A	c.(619-621)Ctc>Atc	p.L207I	GDPD5_ENST00000336898.3_Missense_Mutation_p.L345I|GDPD5_ENST00000529721.1_Missense_Mutation_p.L345I|GDPD5_ENST00000533784.1_Missense_Mutation_p.L226I|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.L100I|GDPD5_ENST00000376282.3_Missense_Mutation_p.L226I			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	345					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGCTCCAGGAGCTCTGCCAGG	0.632													False	0	False	11:75153542	0	T	75153542	G	T	75153542	3	4	88	1	0	0	0	0	1	0	0	0	6372	971	34	3	808	3	GDPD5	11	75153542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103	75153542	59852974	12024	19736											
MAP6	4135	broad.mit.edu	37	chr11	75316859	75316859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggaaatttactctttcGcctcagccagtttattgttc	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75316859G>A	ENST00000434603.2	-	3	1374	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V	MAP6_ENST00000526740.1_Missense_Mutation_p.A108V|MAP6_ENST00000304771.3_Missense_Mutation_p.A437V	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	437						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TTACTCTTTCGCCTCAGCCAG	0.468													False	0	False	11:75316859	0	A	75316859	G	A	75316859	3	1	88	1	0	0	0	0	1	0	0	0	9331	1087	38	1	1143	1	MAP6	11	75316859	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163317	75316859	59689657	12025	19737											
MOGAT2	80168	broad.mit.edu	37	chr11	75442258	75442258	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagcgttatatcaaagAgctgtgcaacctcttcgagg	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75442258A>T	ENST00000526712.1	+	5	1459	c.686A>T	c.(685-687)gAg>gTg	p.E229V	MOGAT2_ENST00000198801.5_Missense_Mutation_p.E311V			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	311					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TATATCAAAGAGCTGTGCAAC	0.552													False	0	False	11:75442258	0	T	75442258	A	T	75442258	3	4	88	1	0	0	0	0	1	0	0	0	9762	304	11	5	954	5	MOGAT2	11	75442258	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	125399	75442258	59564258	12026	19738											
UVRAG	7405	broad.mit.edu	37	chr11	75599929	75599929	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgatggatactatggTgctccatttgaacataaggt	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75599929T>C	ENST00000356136.3	+	5	730	c.489T>C	c.(487-489)ggT>ggC	p.G163G	UVRAG_ENST00000528420.1_Silent_p.G62G	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	163					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GATACTATGGTGCTCCATTTG	0.353													False	0	False	11:75599929	0	C	75599929	T	C	75599929	2	2	88	1	0	0	0	0	0	0	0	1	17192	1683	59	4		4	UVRAG	11	75599929	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	157671	75599929	59406587	12027	19739											
UVRAG	7405	broad.mit.edu	37	chr11	75718637	75718637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggcagttactctctgAgctttcctacatttacccta	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75718637A>G	ENST00000356136.3	+	10	1212	c.971A>G	c.(970-972)gAg>gGg	p.E324G	UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.E223G|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	324					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TTACTCTCTGAGCTTTCCTAC	0.303													False	0	False	11:75718637	0	G	75718637	A	G	75718637	3	3	88	1	0	0	0	0	1	0	0	0	17192	304	11	4	1009	4	UVRAG	11	75718637	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	118708	75718637	59287879	12028	19740											
UVRAG	7405	broad.mit.edu	37	chr11	75851896	75851896	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccagctctgagaatgagagActtcagtacaaaacccctcc	8	13	2	3	rs143874379		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75851896A>G	ENST00000356136.3	+	15	1780	c.1539A>G	c.(1537-1539)agA>agG	p.R513R	UVRAG_ENST00000531818.1_Silent_p.R141R|UVRAG_ENST00000533454.1_Silent_p.R141R|UVRAG_ENST00000528420.1_Silent_p.R412R|UVRAG_ENST00000539288.1_Silent_p.R141R|UVRAG_ENST00000532130.1_Silent_p.R141R|UVRAG_ENST00000538870.1_Silent_p.R69R	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	513					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AGAATGAGAGACTTCAGTACA	0.527													False	0	True	11:75851896	0	G	75851896	A	G	75851896	2	3	88	1	0	0	0	0	0	0	0	1	17192	272	10	4		4	UVRAG	11	75851896	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	133259	75851896	59154620	12029	19741											
WNT11	7481	broad.mit.edu	37	chr11	75907625	75907625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggccttcatgacctcgCgggcggcgtgcaccaccgtg	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75907625C>T	ENST00000322563.3	-	2	345	c.221G>A	c.(220-222)cGc>cAc	p.R74H		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	74					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CATGACCTCGCGGGCGGCGTG	0.627													False	0	True	11:75907625	0	T	75907625	C	T	75907625	3	4	88	1	0	0	0	0	1	0	0	0	17468	768	27	1	859	1	WNT11	11	75907625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55729	75907625	59098891	12030	19742											
PRKRIR	5612	broad.mit.edu	37	chr11	76063034	76063034	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgatggaaaaaagaacaaActtcctcaattgttcctaat	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76063034A>C	ENST00000260045.3	-	5	1265	c.1160T>G	c.(1159-1161)gTt>gGt	p.V387G		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	387					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AAAAGAACAAACTTCCTCAAT	0.383													False	0	True	11:76063034	0	C	76063034	A	C	76063034	3	2	88	1	0	0	0	0	1	0	0	0	12602	43	2	4	1129	4	PRKRIR	11	76063034	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155409	76063034	58943482	12031	19743											
PRKRIR	5612	broad.mit.edu	37	chr11	76063238	76063238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacaatactccatatttaatCcccacttctcagttatcata	2	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76063238C>T	ENST00000260045.3	-	5	1061	c.956G>A	c.(955-957)gGa>gAa	p.G319E		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	319					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CATATTTAATCCCCACTTCTC	0.383													False	0	True	11:76063238	0	T	76063238	C	T	76063238	3	4	88	1	0	0	0	0	1	0	0	0	12602	855	30	2	1333	2	PRKRIR	11	76063238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204	76063238	58943278	12032	19744											
C11orf30	56946	broad.mit.edu	37	chr11	76169327	76169327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccgcctttactgtaacaGctaatgctgttgctaatgca	7	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76169327G>A	ENST00000529032.1	+	4	346	c.346G>A	c.(346-348)Gct>Act	p.A116T	C11orf30_ENST00000524767.1_Missense_Mutation_p.A130T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A116T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A116T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A116T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A130T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A130T|C11orf30_ENST00000343878.3_Missense_Mutation_p.A116T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	116	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TACTGTAACAGCTAATGCTGT	0.473													False	0	False	11:76169327	0	A	76169327	G	A	76169327	3	1	88	1	0	0	0	0	1	0	0	0	1644	971	34	2	360	2	C11orf30	11	76169327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106089	76169327	58837189	12033	19745											
C11orf30	56946	broad.mit.edu	37	chr11	76257202	76257202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaatgtagagagtcctgttCgagtccatccactgttggct	11	9	0	1	rs150867470	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76257202C>T	ENST00000529032.1	+	19	3635	c.3635C>T	c.(3634-3636)tCg>tTg	p.S1212L	C11orf30_ENST00000524767.1_Missense_Mutation_p.S1227L|C11orf30_ENST00000524490.1_Missense_Mutation_p.S1114L|C11orf30_ENST00000525919.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000334736.3_Missense_Mutation_p.S1212L|C11orf30_ENST00000525038.1_Missense_Mutation_p.S1213L|C11orf30_ENST00000533248.1_Missense_Mutation_p.S1121L|C11orf30_ENST00000343878.3_Intron			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1212					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GAGTCCTGTTCGAGTCCATCC	0.522													False	0	False	11:76257202	0	T	76257202	C	T	76257202	3	4	88	1	0	0	0	0	1	0	0	0	1644	893	31	1	3709	1	C11orf30	11	76257202	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87875	76257202	58749314	12034	19746											
B3GNT6	192134	broad.mit.edu	37	chr11	76751323	76751323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggcgcagccacccggccGccacctgttctccggccagc	12	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76751323G>A	ENST00000533140.1	+	2	866	c.728G>A	c.(727-729)cGc>cAc	p.R243H	B3GNT6_ENST00000354301.5_Missense_Mutation_p.R243H|B3GNT6_ENST00000421061.1_Missense_Mutation_p.R154H			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	243					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CCACCCGGCCGCCACCTGTTC	0.692													False	0	False	11:76751323	0	A	76751323	G	A	76751323	3	1	88	1	0	0	0	0	1	0	0	0	1265	1087	38	1	730	1	B3GNT6	11	76751323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	494121	76751323	58255193	12035	19747											
CAPN5	726	broad.mit.edu	37	chr11	76796041	76796041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcttccccgccactgacGactcactctactataagggc	6	18	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76796041G>A	ENST00000278559.3	+	2	298	c.109G>A	c.(109-111)Gac>Aac	p.D37N	CAPN5_ENST00000529629.1_Missense_Mutation_p.D37N|CAPN5_ENST00000456580.2_Missense_Mutation_p.D37N|CAPN5_ENST00000531028.1_Missense_Mutation_p.D37N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	37	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGCCACTGACGACTCACTCTA	0.657													False	0	True	11:76796041	0	A	76796041	G	A	76796041	3	1	88	1	0	0	0	0	1	0	0	0	2649	1058	37	1	111	1	CAPN5	11	76796041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44718	76796041	58210475	12036	19748											
OMP	4975	broad.mit.edu	37	chr11	76814037	76814037	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgctgcagccagcggagtCtgtgtaccgcctcaacttca	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76814037C>A	ENST00000529803.1	+	1	152	c.152C>A	c.(151-153)tCt>tAt	p.S51Y	CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	51					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCAGCGGAGTCTGTGTACCGC	0.647													False	0	False	11:76814037	0	A	76814037	C	A	76814037	3	1	88	1	0	0	0	0	1	0	0	0	10935	913	32	3	154	3	OMP	11	76814037	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17996	76814037	58192479	12037	19749											
CAPN5	726	broad.mit.edu	37	chr11	76825452	76825452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttaaaggtgcacagccGgggcggcctcatcagtgcct	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76825452G>A	ENST00000278559.3	+	5	860	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	CAPN5_ENST00000529629.1_Missense_Mutation_p.R224Q|CAPN5_ENST00000456580.2_Missense_Mutation_p.R264Q|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	224	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTGCACAGCCGGGGCGGCCTC	0.587											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:76825452	0	A	76825452	G	A	76825452	3	1	88	1	0	0	0	0	1	0	0	0	2649	1116	39	1	685	1	CAPN5	11	76825452	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11415	76825452	58181064	12038	19750											
MYO7A	4647	broad.mit.edu	37	chr11	76869383	76869383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacgccaacatccgctccGccatgaaggtgctcatgttc	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76869383G>A	ENST00000409709.3	+	9	1182	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	MYO7A_ENST00000409619.2_Missense_Mutation_p.A293T|MYO7A_ENST00000458637.2_Missense_Mutation_p.A304T|MYO7A_ENST00000409893.1_Missense_Mutation_p.A304T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	304	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATCCGCTCCGCCATGAAGGT	0.612													False	0	True	11:76869383	0	A	76869383	G	A	76869383	3	1	88	1	0	0	0	0	1	0	0	0	10149	1087	38	1	940	1	MYO7A	11	76869383	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43931	76869383	58137133	12039	19751											
MYO7A	4647	broad.mit.edu	37	chr11	76870504	76870504	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccaacagcacgcacatttGaaaacctggatgcctgtgag	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76870504G>A	ENST00000409709.3	+	10	1287	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	MYO7A_ENST00000409619.2_Missense_Mutation_p.E328K|MYO7A_ENST00000458637.2_Missense_Mutation_p.E339K|MYO7A_ENST00000409893.1_Missense_Mutation_p.E339K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	339	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.E339Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACGCACATTTGAAAACCTGGA	0.602													False	0	True	11:76870504	0	A	76870504	G	A	76870504	3	1	88	1	0	0	0	0	1	0	0	0	10149	1291	45	2	1049	2	MYO7A	11	76870504	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1121	76870504	58136012	12040	19752											
MYO7A	4647	broad.mit.edu	37	chr11	76891429	76891429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttccctcagtatctgtggCgcctcgaggctgagaaaatg	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76891429C>T	ENST00000409709.3	+	22	2868	c.2596C>T	c.(2596-2598)Cgc>Tgc	p.R866C	MYO7A_ENST00000409619.2_Missense_Mutation_p.R855C|MYO7A_ENST00000458637.2_Missense_Mutation_p.R866C|MYO7A_ENST00000409893.1_Missense_Mutation_p.R866C	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	866					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTATCTGTGGCGCCTCGAGGC	0.587													False	0	False	11:76891429	0	T	76891429	C	T	76891429	3	4	88	1	0	0	0	0	1	0	0	0	10149	768	27	1	2678	1	MYO7A	11	76891429	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20925	76891429	58115087	12041	19753											
MYO7A	4647	broad.mit.edu	37	chr11	76912528	76912528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctcagctttgccaagGgagacctcatcatcctggac	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76912528G>A	ENST00000409709.3	+	36	5160	c.4888G>A	c.(4888-4890)Gga>Aga	p.G1630R	MYO7A_ENST00000409619.2_Missense_Mutation_p.G1581R|MYO7A_ENST00000458637.2_Missense_Mutation_p.G1592R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1630	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTTTGCCAAGGGAGACCTCAT	0.597													False	0	True	11:76912528	0	A	76912528	G	A	76912528	3	1	88	1	0	0	0	0	1	0	0	0	10149	1233	43	2	5060	2	MYO7A	11	76912528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21099	76912528	58093988	12042	19754											
MYO7A	4647	broad.mit.edu	37	chr11	76912632	76912632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtggggacttccccacCgacagtgtgtacgtcatgcc	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76912632C>T	ENST00000409709.3	+	36	5264	c.4992C>T	c.(4990-4992)acC>acT	p.T1664T	MYO7A_ENST00000409619.2_Silent_p.T1615T|MYO7A_ENST00000458637.2_Silent_p.T1626T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1664	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTTCCCCACCGACAGTGTGT	0.612													False	0	False	11:76912632	0	T	76912632	C	T	76912632	2	4	88	1	0	0	0	0	0	0	0	1	10149	639	23	1		1	MYO7A	11	76912632	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104	76912632	58093884	12043	19755											
GDPD4	220032	broad.mit.edu	37	chr11	76969510	76969510	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggcagggttctcgcaggcaGattctggctgaacttcccca	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76969510G>A	ENST00000315938.4	-	10	1035	c.785C>T	c.(784-786)tCt>tTt	p.S262F	GDPD4_ENST00000376217.2_Missense_Mutation_p.S262F	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	262	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTCGCAGGCAGATTCTGGCTG	0.448													False	0	True	11:76969510	0	A	76969510	G	A	76969510	3	1	88	1	0	0	0	0	1	0	0	0	6371	942	33	2	805	2	GDPD4	11	76969510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56878	76969510	58037006	12044	19756											
INTS4	92105	broad.mit.edu	37	chr11	77639550	77639550	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaaaagagggtgaagaCtgggccaacatgcagagggc	15	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77639550C>A	ENST00000534064.1	-	11	1243	c.1209G>T	c.(1207-1209)caG>caT	p.Q403H	INTS4_ENST00000529807.1_Missense_Mutation_p.Q403H|INTS4_ENST00000525931.1_5'UTR	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	403					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGGGTGAAGACTGGGCCAACA	0.468													False	0	False	11:77639550	0	A	77639550	C	A	77639550	3	1	88	1	0	0	0	0	1	0	0	0	7830	564	20	3	1734	3	INTS4	11	77639550	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	670040	77639550	57366966	12045	19757											
INTS4	92105	broad.mit.edu	37	chr11	77705641	77705641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgccagagcttacctgaaCcactttcgtgaattcctcat	6	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77705641C>T	ENST00000534064.1	-	1	83	c.49G>A	c.(49-51)Gtt>Att	p.V17I	INTS4_ENST00000527522.1_Missense_Mutation_p.V17I|INTS4_ENST00000529807.1_Missense_Mutation_p.V17I	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	17					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTTACCTGAACCACTTTCGTG	0.577													False	0	False	11:77705641	0	T	77705641	C	T	77705641	3	4	88	1	0	0	0	0	1	0	0	0	7830	507	18	2	2934	2	INTS4	11	77705641	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66091	77705641	57300875	12046	19758											
USP35	57558	broad.mit.edu	37	chr11	77920696	77920696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcacggacctctctctcGccttccctcctcctgagcgc	6	21	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77920696G>A	ENST00000529308.1	+	10	2056	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	USP35_ENST00000530267.1_Missense_Mutation_p.A167T|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.A330T|USP35_ENST00000441408.2_Missense_Mutation_p.A185T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	599					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCTCTCTCTCGCCTTCCCTCC	0.622													False	0	True	11:77920696	0	A	77920696	G	A	77920696	3	1	88	1	0	0	0	0	1	0	0	0	17150	1087	38	1	1829	1	USP35	11	77920696	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215055	77920696	57085820	12047	19759											
USP35	57558	broad.mit.edu	37	chr11	77921647	77921647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcacctccttcttccctaagGacacagcctatgtgctgttt	6	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77921647G>T	ENST00000529308.1	+	10	3007	c.2746G>T	c.(2746-2748)Gac>Tac	p.D916Y	USP35_ENST00000530267.1_Missense_Mutation_p.D484Y|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.D647Y|USP35_ENST00000441408.2_Missense_Mutation_p.D502Y	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	916					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTTCCCTAAGGACACAGCCTA	0.582													False	0	False	11:77921647	0	T	77921647	G	T	77921647	3	4	88	1	0	0	0	0	1	0	0	0	17150	1174	41	3	2780	3	USP35	11	77921647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	951	77921647	57084869	12048	19760											
USP35	57558	broad.mit.edu	37	chr11	77924851	77924851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgacttccacagactgGtcttctaatgtgaacctgct	10	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77924851G>A	ENST00000529308.1	+	11	3310	c.3049G>A	c.(3049-3051)Gtc>Atc	p.V1017I	USP35_ENST00000530267.1_Missense_Mutation_p.V585I|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.V748I|USP35_ENST00000441408.2_Missense_Mutation_p.V603I	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	1017					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCACAGACTGGTCTTCTAATG	0.587													False	0	False	11:77924851	0	A	77924851	G	A	77924851	3	1	88	1	0	0	0	0	1	0	0	0	17150	1261	44	2	3087	2	USP35	11	77924851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3204	77924851	57081665	12049	19761											
GAB2	9846	broad.mit.edu	37	chr11	77931441	77931441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggtgctcttcttagggGcaggactgttcgtgccactg	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77931441G>A	ENST00000361507.4	-	9	1896	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V	GAB2_ENST00000340149.2_Missense_Mutation_p.A566V	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	604					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CTTCTTAGGGGCAGGACTGTT	0.582													False	0	True	11:77931441	0	A	77931441	G	A	77931441	3	1	88	1	0	0	0	0	1	0	0	0	6191	1203	42	2	227	2	GAB2	11	77931441	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6590	77931441	57075075	12050	19762											
GAB2	9846	broad.mit.edu	37	chr11	77937523	77937523	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactgacctcggtgaagtcGgctgttgtccattgcaggga	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77937523G>A	ENST00000361507.4	-	4	1280	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	GAB2_ENST00000340149.2_Nonsense_Mutation_p.R361*	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	399					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGGTGAAGTCGGCTGTTGTCC	0.542													False	0	False	11:77937523	0	A	77937523	G	A	77937523	4	1	88	1	0	0	0	0	0	1	0	0	6191	1124	39	1	863	1	GAB2	11	77937523	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6082	77937523	57068993	12051	19763											
NARS2	79731	broad.mit.edu	37	chr11	78277273	78277273	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaaagtgaggatattgtcGcagatactccagaggatgcc	11	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78277273G>A	ENST00000281038.5	-	4	793	c.418C>T	c.(418-420)Cga>Tga	p.R140*	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	140					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GGATATTGTCGCAGATACTCC	0.373													False	0	False	11:78277273	0	A	78277273	G	A	78277273	4	1	88	1	0	0	0	0	0	1	0	0	10238	1095	38	1	1059	1	NARS2	11	78277273	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339750	78277273	56729243	12052	19764											
FAM181B	220382	broad.mit.edu	37	chr11	82444612	82444612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacgtcccctccttcggCtcccgacagcagcgcacccg	10	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82444612C>T	ENST00000329203.3	-	1	294	c.160G>A	c.(160-162)Gcc>Acc	p.A54T		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	54										large_intestine(1)|lung(2)|prostate(1)	4						CCTCCTTCGGCTCCCGACAGC	0.682													False	0	False	11:82444612	0	T	82444612	C	T	82444612	3	4	88	1	0	0	0	0	1	0	0	0	5545	797	28	2	1124	2	FAM181B	11	82444612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4167339	82444612	52561904	12053	19765											
FAM181B	220382	broad.mit.edu	37	chr11	82444633	82444633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgacagcagcgcacccgCcggagccccggtctcatcgt	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82444633C>T	ENST00000329203.3	-	1	273	c.139G>A	c.(139-141)Gcg>Acg	p.A47T		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	47										large_intestine(1)|lung(2)|prostate(1)	4						AGCGCACCCGCCGGAGCCCCG	0.692													False	0	False	11:82444633	0	T	82444633	C	T	82444633	3	4	88	1	0	0	0	0	1	0	0	0	5545	739	26	2	1145	2	FAM181B	11	82444633	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	82444633	52561883	12054	19766											
PRCP	5547	broad.mit.edu	37	chr11	82561517	82561517	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaatcagccagagcttgttCtgatgtcaggaaattcaagt	9	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82561517C>A	ENST00000313010.3	-	4	636	c.442G>T	c.(442-444)Gaa>Taa	p.E148*	PRCP_ENST00000535099.1_Nonsense_Mutation_p.E43*|PRCP_ENST00000393399.2_Nonsense_Mutation_p.E169*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	148					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGAGCTTGTTCTGATGTCAGG	0.408													False	0	False	11:82561517	0	A	82561517	C	A	82561517	4	1	88	1	0	0	0	0	0	1	0	0	12525	922	32	3	1072	3	PRCP	11	82561517	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116884	82561517	52444999	12055	19767											
C11orf82	220042	broad.mit.edu	37	chr11	82639965	82639965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacattttttggtcttactgCcactggtttgcacaggtaag	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82639965C>T	ENST00000533655.1	+	4	472	c.260C>T	c.(259-261)gCc>gTc	p.A87V	C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000525388.1_Missense_Mutation_p.A87V|C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.A87V|C11orf82_ENST00000525361.1_Missense_Mutation_p.A87V|C11orf82_ENST00000524921.1_Missense_Mutation_p.A87V	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	87					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GGTCTTACTGCCACTGGTTTG	0.313													False	0	False	11:82639965	0	T	82639965	C	T	82639965	3	4	88	1	0	0	0	0	1	0	0	0	1673	739	26	2	266	2	C11orf82	11	82639965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78448	82639965	52366551	12056	19768											
PCF11	51585	broad.mit.edu	37	chr11	82880369	82880369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtatcaggtttgaaggcCctttagtccaacaaggaggt	12	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82880369C>T	ENST00000298281.4	+	8	3444	c.2992C>T	c.(2992-2994)Cct>Tct	p.P998S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	998	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTTTGAAGGCCCTTTAGTCCA	0.512													False	0	True	11:82880369	0	T	82880369	C	T	82880369	3	4	88	1	0	0	0	0	1	0	0	0	11641	623	22	2	3022	2	PCF11	11	82880369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240404	82880369	52126147	12057	19769											
CCDC90B	60492	broad.mit.edu	37	chr11	82976975	82976975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggaagcaatttcagcgTcaattttattactggtctct	7	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82976975T>C	ENST00000529689.1	-	8	1075	c.641A>G	c.(640-642)gAc>gGc	p.D214G	CCDC90B_ENST00000529073.1_Missense_Mutation_p.T203A|CCDC90B_ENST00000525503.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000455220.2_Missense_Mutation_p.D205G|CCDC90B_ENST00000529611.1_Missense_Mutation_p.D113G|CCDC90B_ENST00000525504.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	214						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				AATTTCAGCGTCAATTTTATT	0.338													False	0	False	11:82976975	0	C	82976975	T	C	82976975	3	2	88	1	0	0	0	0	1	0	0	0	2890	1667	58	4	131	4	CCDC90B	11	82976975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96606	82976975	52029541	12058	19770											
DLG2	1740	broad.mit.edu	37	chr11	83641454	83641455	+	Frame_Shift_Ins	INS	-	-	T													agcttttgtcacactcaacaINSggggaatagtgcctgggaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:83641454_83641455insT	ENST00000398309.2	-	10	1567_1568	c.1097_1098insA	c.(1096-1098)cctfs	p.P366fs	DLG2_ENST00000418306.2_Intron|DLG2_ENST00000543673.1_Frame_Shift_Ins_p.P471fs|DLG2_ENST00000376104.2_Frame_Shift_Ins_p.P471fs|DLG2_ENST00000537455.1_Frame_Shift_Ins_p.P120fs|DLG2_ENST00000524982.1_Frame_Shift_Ins_p.P366fs|DLG2_ENST00000376106.3_De_novo_Start_OutOfFrame|DLG2_ENST00000330014.6_Frame_Shift_Ins_p.P305fs|DLG2_ENST00000398301.2_Frame_Shift_Ins_p.P405fs|DLG2_ENST00000531015.1_Frame_Shift_Ins_p.P333fs|DLG2_ENST00000532653.1_Frame_Shift_Ins_p.P366fs|DLG2_ENST00000280241.8_Frame_Shift_Ins_p.P405fs	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	366						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CACACTCAACAGGGGAATAGTG	0.505													False	0	True	11:83641454	0	T	83641455	-	T	83641454	7	5	88	1	0	1	1	0	0	0	0	0	4585	175	7	0	1620	0	DLG2	11	83641454	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	664479	83641454	51365062	12059	19771											
DLG2	1740	broad.mit.edu	37	chr11	84245751	84245751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggaatgatcatgtggagcGtcctcatcttgatatcgata	10	7	3	2	rs149841754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:84245751G>A	ENST00000398309.2	-	2	536	c.66C>T	c.(64-66)gaC>gaT	p.D22D	DLG2_ENST00000524982.1_Silent_p.D22D|DLG2_ENST00000376104.2_Silent_p.D127D|DLG2_ENST00000532653.1_Silent_p.D22D|DLG2_ENST00000543673.1_Silent_p.D127D	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	22						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CATGTGGAGCGTCCTCATCTT	0.383													False	0	False	11:84245751	0	A	84245751	G	A	84245751	2	1	88	1	0	0	0	0	0	0	0	1	4585	1136	40	1		1	DLG2	11	84245751	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	604297	84245751	50760765	12060	19772											
DLG2	1740	broad.mit.edu	37	chr11	84634141	84634141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacgttagtccggagtgCacagtaacatgcaaagaaca	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:84634141C>T	ENST00000398309.2	-	1	492	c.22G>A	c.(22-24)Gca>Aca	p.A8T	DLG2_ENST00000524982.1_Missense_Mutation_p.A8T|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000532653.1_Missense_Mutation_p.A8T|DLG2_ENST00000543673.1_Intron	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	8						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTCCGGAGTGCACAGTAACAT	0.493													False	0	False	11:84634141	0	T	84634141	C	T	84634141	3	4	88	1	0	0	0	0	1	0	0	0	4585	710	25	2	2841	2	DLG2	11	84634141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	388390	84634141	50372375	12061	19773											
CREBZF	58487	broad.mit.edu	37	chr11	85375468	85375468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcatttcagcagccgcgGcctcatcgtcatcgtcccct	9	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85375468G>A	ENST00000527447.1	-	1	678	c.452C>T	c.(451-453)gCc>gTc	p.A151V	CREBZF_ENST00000398294.2_Missense_Mutation_p.A69V|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	151					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGCAGCCGCGGCCTCATCGTC	0.647													False	0	False	11:85375468	0	A	85375468	G	A	85375468	3	1	88	1	0	0	0	0	1	0	0	0	3886	1203	42	2	616	2	CREBZF	11	85375468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	741327	85375468	49631048	12062	19774											
CCDC89	220388	broad.mit.edu	37	chr11	85397127	85397127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgttcttcagggggcgggGtgtccatcctgggagcctgc	17	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85397127G>A	ENST00000316398.3	-	1	193	c.47C>T	c.(46-48)aCc>aTc	p.T16I		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	16						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGGGGGCGGGGTGTCCATCCT	0.527													False	0	True	11:85397127	0	A	85397127	G	A	85397127	3	1	88	1	0	0	0	0	1	0	0	0	2887	1261	44	2	1081	2	CCDC89	11	85397127	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21659	85397127	49609389	12063	19775											
SYTL2	54843	broad.mit.edu	37	chr11	85435654	85435654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctcactgacacctgggGctgataaggaggagcttcag	12	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85435654G>A	ENST00000359152.5	-	1	3417	c.3418C>T	c.(3418-3420)Ccc>Tcc	p.P1140S	SYTL2_ENST00000525423.1_Missense_Mutation_p.P616S|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.P616S|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	302					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GACACCTGGGGCTGATAAGGA	0.478													False	0	True	11:85435654	0	A	85435654	G	A	85435654	3	1	88	1	0	0	0	0	1	0	0	0	15565	1203	42	2	2024	2	SYTL2	11	85435654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38527	85435654	49570862	12064	19776											
SYTL2	54843	broad.mit.edu	37	chr11	85445199	85445199	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggttgattgatgaaaaagCgaaggctttctgtattgaga	13	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85445199C>T	ENST00000316356.4	-	7	1737	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S	SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000389960.4_Silent_p.S390S|SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000528231.1_Silent_p.S390S			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	390					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATGAAAAAGCGAAGGCTTTC	0.398													False	0	False	11:85445199	0	T	85445199	C	T	85445199	2	4	88	1	0	0	0	0	0	0	0	1	15565	755	27	1		1	SYTL2	11	85445199	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9545	85445199	49561317	12065	19777											
PICALM	8301	broad.mit.edu	37	chr11	85685823	85685823	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatattaaggttggttgCgtcattacaggaacacttcc	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85685823C>T	ENST00000526033.1	-	19	2167	c.1851G>A	c.(1849-1851)acG>acA	p.T617T	PICALM_ENST00000532317.1_Silent_p.T582T|PICALM_ENST00000356360.5_Silent_p.T604T|PICALM_ENST00000528398.1_Silent_p.T523T|PICALM_ENST00000393346.3_Silent_p.T624T	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	624					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AGGTTGGTTGCGTCATTACAG	0.403			T	"MLLT10, MLL"	"TALL, AML, "								False	0	True	11:85685823	0	T	85685823	C	T	85685823	2	4	88	1	0	0	0	0	0	0	0	1	11949	755	27	1		1	PICALM	11	85685823	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240624	85685823	49320693	12066	19778											
PICALM	8301	broad.mit.edu	37	chr11	85733411	85733411	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaaaaagcttaactcaccCtctcttcacttttgtgaaat	3	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85733411C>A	ENST00000526033.1	-	4	767	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	PICALM_ENST00000532317.1_Splice_Site_p.G151W|PICALM_ENST00000356360.5_Splice_Site_p.G151W|PICALM_ENST00000528398.1_Splice_Site_p.G100W|PICALM_ENST00000393346.3_Splice_Site_p.G151W	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	151					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TTAACTCACCCTCTCTTCACT	0.279			T	"MLLT10, MLL"	"TALL, AML, "								False	0	True	11:85733411	0	A	85733411	C	A	85733411	5	1	88	1	0	0	0	0	0	0	1	0	11949	695	24	3	1603	3	PICALM	11	85733411	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47588	85733411	49273105	12067	19779											
EED	8726	broad.mit.edu	37	chr11	85967452	85967452	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaaacttttacacttgTgcatggacctatgatagcaa	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85967452T>C	ENST00000263360.6	+	5	1136	c.450T>C	c.(448-450)tgT>tgC	p.C150C	EED_ENST00000351625.6_Silent_p.C150C|EED_ENST00000327320.4_Silent_p.C150C|EED_ENST00000528180.1_Silent_p.C150C	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	150	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TTTACACTTGTGCATGGACCT	0.323													False	0	False	11:85967452	0	C	85967452	T	C	85967452	2	2	88	1	0	0	0	0	0	0	0	1	4952	1702	59	4		4	EED	11	85967452	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234041	85967452	49039064	12068	19780											
EED	8726	broad.mit.edu	37	chr11	85988058	85988058	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgctggaaacctggcAagatggaagatgatatagat	13	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85988058A>C	ENST00000263360.6	+	10	1689	c.1003A>C	c.(1003-1005)Aag>Cag	p.K335Q	EED_ENST00000351625.6_Missense_Mutation_p.K360Q|EED_ENST00000327320.4_Missense_Mutation_p.K335Q|EED_ENST00000528180.1_Missense_Mutation_p.K255Q|EED_ENST00000527888.1_5'UTR	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	335	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GAAACCTGGCAAGATGGAAGA	0.353													False	0	False	11:85988058	0	C	85988058	A	C	85988058	3	2	88	1	0	0	0	0	1	0	0	0	4952	131	5	4	1041	4	EED	11	85988058	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20606	85988058	49018458	12069	19781											
EED	8726	broad.mit.edu	37	chr11	85988142	85988142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgattacagccagtgtgacAtttggtacatgaggttttct	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85988142A>G	ENST00000263360.6	+	10	1773	c.1087A>G	c.(1087-1089)Att>Gtt	p.I363V	EED_ENST00000351625.6_Missense_Mutation_p.I388V|EED_ENST00000327320.4_Missense_Mutation_p.I363V|EED_ENST00000528180.1_Missense_Mutation_p.I283V|EED_ENST00000527888.1_Missense_Mutation_p.I28V	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	363	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				CCAGTGTGACATTTGGTACAT	0.358													False	0	True	11:85988142	0	G	85988142	A	G	85988142	3	3	88	1	0	0	0	0	1	0	0	0	4952	217	8	4	1125	4	EED	11	85988142	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	84	85988142	49018374	12070	19782											
PRSS23	11098	broad.mit.edu	37	chr11	86518792	86518792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacttggcctgcataccGcctccctgtcgtcttgcccc	7	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86518792G>A	ENST00000280258.5	+	2	532	c.107G>A	c.(106-108)cGc>cAc	p.R36H	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.R36H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	36					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTGCATACCGCCTCCCTGTC	0.542													False	0	False	11:86518792	0	A	86518792	G	A	86518792	3	1	88	1	0	0	0	0	1	0	0	0	12696	1087	38	1	109	1	PRSS23	11	86518792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	530650	86518792	48487724	12071	19783											
PRSS23	11098	broad.mit.edu	37	chr11	86519307	86519307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggtggtcgaggggccaacGactccacttcagccatgccc	12	14	1	0	rs149020963		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86519307G>A	ENST00000280258.5	+	2	1047	c.622G>A	c.(622-624)Gac>Aac	p.D208N	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.D176N	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	208					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGGCCAACGACTCCACTTC	0.517													False	0	False	11:86519307	0	A	86519307	G	A	86519307	3	1	88	1	0	0	0	0	1	0	0	0	12696	1058	37	1	624	1	PRSS23	11	86519307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	515	86519307	48487209	12072	19784											
PRSS23	11098	broad.mit.edu	37	chr11	86519669	86519669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggatgtggaagagacaGcagcagaagtgggagcgaaa	18	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86519669G>T	ENST00000280258.5	+	2	1409	c.984G>T	c.(982-984)caG>caT	p.Q328H	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.Q296H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	328					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGAAGAGACAGCAGCAGAAGT	0.527													False	0	True	11:86519669	0	T	86519669	G	T	86519669	3	4	88	1	0	0	0	0	1	0	0	0	12696	962	34	3	986	3	PRSS23	11	86519669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	362	86519669	48486847	12073	19785											
TMEM135	65084	broad.mit.edu	37	chr11	87013442	87013442	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatgaggaaaaacccggaaGaatgaatatgattggtctag	11	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:87013442G>A	ENST00000340353.7	+	7	792	c.590G>A	c.(589-591)aGa>aAa	p.R197K	TMEM135_ENST00000305494.5_Missense_Mutation_p.R219K|TMEM135_ENST00000532959.1_Missense_Mutation_p.R90K|TMEM135_ENST00000535167.1_Missense_Mutation_p.R80K	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	219						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAACCCGGAAGAATGAATATG	0.368													False	0	True	11:87013442	0	A	87013442	G	A	87013442	3	1	88	1	0	0	0	0	1	0	0	0	16133	942	33	2	686	2	TMEM135	11	87013442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493773	87013442	47993074	12074	19786											
RAB38	23682	broad.mit.edu	37	chr11	87908434	87908434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagtccacgccgattgtgGcccggtagtgcgaagagaag	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:87908434G>A	ENST00000243662.6	-	1	201	c.119C>T	c.(118-120)gCc>gTc	p.A40V		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	40					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCCGATTGTGGCCCGGTAGTG	0.622													False	0	True	11:87908434	0	A	87908434	G	A	87908434	3	1	88	1	0	0	0	0	1	0	0	0	13007	1203	42	2	528	2	RAB38	11	87908434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	894992	87908434	47098082	12075	19787											
GRM5	2915	broad.mit.edu	37	chr11	88242512	88242512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcctgcgccagcgccagCgcccaggccacggctctccg	12	22	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88242512C>T	ENST00000418177.2	-	10	3254	c.2887G>A	c.(2887-2889)Gct>Act	p.A963T	GRM5_ENST00000305432.5_Missense_Mutation_p.A931T|GRM5_ENST00000455756.2_Missense_Mutation_p.A931T|GRM5_ENST00000305447.4_Missense_Mutation_p.A963T|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	963					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCAGCGCCAGCGCCCAGGCCA	0.726													False	0	True	11:88242512	0	T	88242512	C	T	88242512	3	4	88	1	0	0	0	0	1	0	0	0	6847	768	27	1	755	1	GRM5	11	88242512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334078	88242512	46764004	12076	19788											
GRM5	2915	broad.mit.edu	37	chr11	88300355	88300355	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgaaggcgctgcgcacGtttctctctggtttggccag	15	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88300355G>A	ENST00000418177.2	-	8	2863	c.2496C>T	c.(2494-2496)aaC>aaT	p.N832N	GRM5_ENST00000305432.5_Silent_p.N832N|GRM5_ENST00000455756.2_Silent_p.N832N|GRM5_ENST00000305447.4_Silent_p.N832N|GRM5_ENST00000393297.1_Silent_p.N832N			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	832					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CGCTGCGCACGTTTCTCTCTG	0.567													False	0	True	11:88300355	0	A	88300355	G	A	88300355	2	1	88	1	0	0	0	0	0	0	0	1	6847	1136	40	1		1	GRM5	11	88300355	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57843	88300355	46706161	12077	19789											
GRM5	2915	broad.mit.edu	37	chr11	88300442	88300442	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactgaggctgaccgagaaAcacatggtgatgattttgta	12	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88300442A>C	ENST00000418177.2	-	8	2776	c.2409T>G	c.(2407-2409)tgT>tgG	p.C803W	GRM5_ENST00000305432.5_Missense_Mutation_p.C803W|GRM5_ENST00000455756.2_Missense_Mutation_p.C803W|GRM5_ENST00000305447.4_Missense_Mutation_p.C803W|GRM5_ENST00000393297.1_Missense_Mutation_p.C803W			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	803					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGACCGAGAAACACATGGTGA	0.502													False	0	True	11:88300442	0	C	88300442	A	C	88300442	3	2	88	1	0	0	0	0	1	0	0	0	6847	41	2	4	1241	4	GRM5	11	88300442	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	87	88300442	46706074	12078	19790											
GRM5	2915	broad.mit.edu	37	chr11	88301064	88301064	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaagactacagtaacaAacagggtggccaggaggcca	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88301064A>G	ENST00000418177.2	-	8	2154	c.1787T>C	c.(1786-1788)tTt>tCt	p.F596S	GRM5_ENST00000305432.5_Missense_Mutation_p.F596S|GRM5_ENST00000455756.2_Missense_Mutation_p.F596S|GRM5_ENST00000305447.4_Missense_Mutation_p.F596S|GRM5_ENST00000393297.1_Missense_Mutation_p.F596S			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	596					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TACAGTAACAAACAGGGTGGC	0.517													False	0	True	11:88301064	0	G	88301064	A	G	88301064	3	3	88	1	0	0	0	0	1	0	0	0	6847	14	1	4	1863	4	GRM5	11	88301064	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	622	88301064	46705452	12079	19791											
GRM5	2915	broad.mit.edu	37	chr11	88386453	88386453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtttgtttctggccggaGcttcagataataatcatcaa	10	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88386453G>A	ENST00000418177.2	-	4	1397	c.1030C>T	c.(1030-1032)Ctc>Ttc	p.L344F	GRM5_ENST00000305432.5_Missense_Mutation_p.L344F|GRM5_ENST00000455756.2_Missense_Mutation_p.L344F|GRM5_ENST00000305447.4_Missense_Mutation_p.L344F|GRM5_ENST00000393297.1_Missense_Mutation_p.L344F			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	344					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTGGCCGGAGCTTCAGATAA	0.458													False	0	False	11:88386453	0	A	88386453	G	A	88386453	3	1	88	1	0	0	0	0	1	0	0	0	6847	971	34	2	2636	2	GRM5	11	88386453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85389	88386453	46620063	12080	19792											
GRM5	2915	broad.mit.edu	37	chr11	88780583	88780583	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctggacctgaatggctacaGaactggagccaggcccaatg	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88780583G>T	ENST00000418177.2	-	2	825	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	GRM5_ENST00000305432.5_Missense_Mutation_p.S153Y|GRM5_ENST00000455756.2_Missense_Mutation_p.S153Y|GRM5_ENST00000305447.4_Missense_Mutation_p.S153Y|GRM5_ENST00000393294.3_Missense_Mutation_p.S153Y|GRM5_ENST00000393297.1_Missense_Mutation_p.S153Y			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	153					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AATGGCTACAGAACTGGAGCC	0.502													False	0	False	11:88780583	0	T	88780583	G	T	88780583	3	4	88	1	0	0	0	0	1	0	0	0	6847	942	33	3	3216	3	GRM5	11	88780583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	394130	88780583	46225933	12081	19793											
TYR	7299	broad.mit.edu	37	chr11	88924508	88924508	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcagctgatgtagaaTtttgcctgagtttgacccaa	8	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88924508T>G	ENST00000263321.5	+	2	1460	c.958T>G	c.(958-960)Ttt>Gtt	p.F320V	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	320					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGATGTAGAATTTTGCCTGAG	0.438													False	0	True	11:88924508	0	G	88924508	T	G	88924508	3	3	88	1	0	0	0	0	1	0	0	0	16897	1493	52	4	964	4	TYR	11	88924508	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	143925	88924508	46082008	12082	19794											
TYR	7299	broad.mit.edu	37	chr11	88924572	88924572	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agctgccaatttcagctttaGaaatacactggaaggtaatc	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88924572G>T	ENST00000263321.5	+	2	1524	c.1022G>T	c.(1021-1023)aGa>aTa	p.R341I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	341					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTCAGCTTTAGAAATACACTG	0.368													False	0	True	11:88924572	0	T	88924572	G	T	88924572	3	4	88	1	0	0	0	0	1	0	0	0	16897	942	33	3	1028	3	TYR	11	88924572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64	88924572	46081944	12083	19795											
TYR	7299	broad.mit.edu	37	chr11	89017970	89017970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtggctccgaaggcaccGtcctcttcaagaagtttatc	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89017970G>A	ENST00000263321.5	+	4	1716	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	405			R -> L (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CGAAGGCACCGTCCTCTTCAA	0.383													False	0	False	11:89017970	0	A	89017970	G	A	89017970	3	1	88	1	0	0	0	0	1	0	0	0	16897	1145	40	1	1228	1	TYR	11	89017970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93398	89017970	45988546	12084	19796											
TYR	7299	broad.mit.edu	37	chr11	89028501	89028501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcctcatggagaaagaGgattaccacagcttgtatca	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89028501G>A	ENST00000263321.5	+	5	2059	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	519					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGGAGAAAGAGGATTACCACA	0.488													False	0	False	11:89028501	0	A	89028501	G	A	89028501	2	1	88	1	0	0	0	0	0	0	0	1	16897	991	35	2		2	TYR	11	89028501	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10531	89028501	45978015	12085	19797											
NOX4	50507	broad.mit.edu	37	chr11	89133228	89133228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctaatgcagatacactgGgacaatgtagagtaatatac	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89133228G>A	ENST00000535633.1	-	11	1269	c.959C>T	c.(958-960)cCc>cTc	p.P320L	NOX4_ENST00000532825.1_Missense_Mutation_p.P320L|NOX4_ENST00000263317.4_Missense_Mutation_p.P344L|NOX4_ENST00000527956.1_Missense_Mutation_p.P320L|NOX4_ENST00000343727.5_Missense_Mutation_p.P320L|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.P320L|NOX4_ENST00000534731.1_Missense_Mutation_p.P344L|NOX4_ENST00000528341.1_Missense_Mutation_p.P319L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.P365L|NOX4_ENST00000542487.1_Missense_Mutation_p.P320L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.P178L	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	344	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGATACACTGGGACAATGTAG	0.303													False	0	True	11:89133228	0	A	89133228	G	A	89133228	3	1	88	1	0	0	0	0	1	0	0	0	10626	1232	43	2	737	2	NOX4	11	89133228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104727	89133228	45873288	12086	19798											
FOLH1B	219595	broad.mit.edu	37	chr11	89385740	89385740	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattgtaccatctttcagtgCtttctctcctcaaggaatgc	6	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89385740C>A	ENST00000532352.1	+	0	377							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TCTTTCAGTGCTTTCTCTCCT	0.338													False	0	True	11:89385740	0	A	89385740	C	A	89385740	1	1	88	0	1	0	0	0	0	0	0	0	6020	812	28	3		3	FOLH1B	11	89385740	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	252512	89385740	45620776	12087	19799											
FOLH1B	219595	broad.mit.edu	37	chr11	89424667	89424667	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaattgcttccaagttcagCgagagactccaggactttga	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89424667C>T	ENST00000532352.1	+	0	1830							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCAAGTTCAGCGAGAGACTCC	0.279													False	0	True	11:89424667	0	T	89424667	C	T	89424667	1	4	88	0	1	0	0	0	0	0	0	0	6020	767	27	1		1	FOLH1B	11	89424667	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38927	89424667	45581849	12088	19800											
TRIM49	57093	broad.mit.edu	37	chr11	89537566	89537566	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtctatggtgaccggGtctatgaagtagttcatgca	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89537566G>A	ENST00000329758.1	-	3	400	c.72C>T	c.(70-72)gaC>gaT	p.D24D	TRIM49_ENST00000532501.2_Silent_p.D24D	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	24						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGGTGACCGGGTCTATGAAGT	0.468													False	0	True	11:89537566	0	A	89537566	G	A	89537566	2	1	88	1	0	0	0	0	0	0	0	1	16607	1252	44	2		2	TRIM49	11	89537566	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112899	89537566	45468950	12089	19801											
NAALAD2	10003	broad.mit.edu	37	chr11	89868815	89868815	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggtatccgaaatgaaagcTgaaaacatcaaatcatttct	6	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89868815T>C	ENST00000534061.1	+	2	401	c.171T>C	c.(169-171)gcT>gcC	p.A57A	NAALAD2_ENST00000525171.1_Silent_p.A57A|NAALAD2_ENST00000375944.3_Silent_p.A57A|NAALAD2_ENST00000321955.4_Silent_p.A57A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	57					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAATGAAAGCTGAAAACATCA	0.333													False	0	False	11:89868815	0	C	89868815	T	C	89868815	2	2	88	1	0	0	0	0	0	0	0	1	10195	1567	55	4		4	NAALAD2	11	89868815	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	331249	89868815	45137701	12090	19802											
NAALAD2	10003	broad.mit.edu	37	chr11	89882186	89882186	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttgctagattttcaaaacaTcataccttgaaccaccacca	3	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89882186T>G	ENST00000534061.1	+	4	624	c.394T>G	c.(394-396)Tca>Gca	p.S132A	NAALAD2_ENST00000525171.1_Missense_Mutation_p.S132A|NAALAD2_ENST00000375944.3_Missense_Mutation_p.S132A|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S132A	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	132					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCAAAACATCATACCTTGA	0.323													False	0	False	11:89882186	0	G	89882186	T	G	89882186	3	3	88	1	0	0	0	0	1	0	0	0	10195	1435	50	4	408	4	NAALAD2	11	89882186	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13371	89882186	45124330	12091	19803											
NAALAD2	10003	broad.mit.edu	37	chr11	89903276	89903276	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtactccccttctttAccaattagtgtataaactga	5	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89903276A>G	ENST00000534061.1	+	13	1612	c.1382A>G	c.(1381-1383)tAc>tGc	p.Y461C	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.Y428C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	461	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCCTTCTTTACCAATTAGTG	0.313													False	0	True	11:89903276	0	G	89903276	A	G	89903276	3	3	88	1	0	0	0	0	1	0	0	0	10195	391	14	4	1432	4	NAALAD2	11	89903276	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21090	89903276	45103240	12092	19804											
FAT3	120114	broad.mit.edu	37	chr11	92085814	92085814	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctaaggactagtgttgcccAggtgactgcaacagacgcag	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92085814A>G	ENST00000298047.6	+	1	553	c.536A>G	c.(535-537)cAg>cGg	p.Q179R	FAT3_ENST00000409404.2_Missense_Mutation_p.Q179R|FAT3_ENST00000525166.1_Missense_Mutation_p.Q29R|FAT3_ENST00000541502.1_Missense_Mutation_p.Q179R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	179	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGTTGCCCAGGTGACTGCA	0.408										TCGA Ovarian(4;0.039)			False	0	True	11:92085814	0	G	92085814	A	G	92085814	3	3	88	1	0	0	0	0	1	0	0	0	5731	188	7	4	538	4	FAT3	11	92085814	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2182538	92085814	42920702	12093	19805											
FAT3	120114	broad.mit.edu	37	chr11	92088327	92088327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggccaaagacaaagggCggcctgtctctctgtcatct	12	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92088327C>T	ENST00000298047.6	+	1	3066	c.3049C>T	c.(3049-3051)Cgg>Tgg	p.R1017W	FAT3_ENST00000409404.2_Missense_Mutation_p.R1017W|FAT3_ENST00000525166.1_Missense_Mutation_p.R867W|FAT3_ENST00000541502.1_Missense_Mutation_p.R1017W			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1017	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACAAAGGGCGGCCTGTCTC	0.463										TCGA Ovarian(4;0.039)			False	0	True	11:92088327	0	T	92088327	C	T	92088327	3	4	88	1	0	0	0	0	1	0	0	0	5731	759	27	1	3051	1	FAT3	11	92088327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2513	92088327	42918189	12094	19806											
FAT3	120114	broad.mit.edu	37	chr11	92258078	92258078	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catacaggattacaagtggaAatcctcagaatttttttgcc	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92258078A>G	ENST00000298047.6	+	2	3588	c.3571A>G	c.(3571-3573)Aat>Gat	p.N1191D	FAT3_ENST00000409404.2_Missense_Mutation_p.N1191D|FAT3_ENST00000525166.1_Missense_Mutation_p.N1041D|FAT3_ENST00000541502.1_Missense_Mutation_p.N1191D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1191	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACAAGTGGAAATCCTCAGAA	0.383										TCGA Ovarian(4;0.039)			False	0	True	11:92258078	0	G	92258078	A	G	92258078	3	3	88	1	0	0	0	0	1	0	0	0	5731	14	1	4	3577	4	FAT3	11	92258078	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	169751	92258078	42748438	12095	19807											
FAT3	120114	broad.mit.edu	37	chr11	92531437	92531437	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggaatggcttccaatgCtacagtcaatattcagattg	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92531437C>A	ENST00000298047.6	+	9	5275	c.5258C>A	c.(5257-5259)gCt>gAt	p.A1753D	FAT3_ENST00000409404.2_Missense_Mutation_p.A1753D|FAT3_ENST00000525166.1_Missense_Mutation_p.A1603D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1753	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTTCCAATGCTACAGTCAAT	0.443										TCGA Ovarian(4;0.039)			False	0	False	11:92531437	0	A	92531437	C	A	92531437	3	1	88	1	0	0	0	0	1	0	0	0	5731	797	28	3	5292	3	FAT3	11	92531437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	273359	92531437	42475079	12096	19808											
FAT3	120114	broad.mit.edu	37	chr11	92533803	92533803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatcaatgactttgccaagGatcgattcctcatagacagc	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92533803G>A	ENST00000298047.6	+	9	7641	c.7624G>A	c.(7624-7626)Gat>Aat	p.D2542N	FAT3_ENST00000409404.2_Missense_Mutation_p.D2542N|FAT3_ENST00000525166.1_Missense_Mutation_p.D2392N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2542	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTTGCCAAGGATCGATTCCT	0.493										TCGA Ovarian(4;0.039)			False	0	False	11:92533803	0	A	92533803	G	A	92533803	3	1	88	1	0	0	0	0	1	0	0	0	5731	1174	41	2	7658	2	FAT3	11	92533803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2366	92533803	42472713	12097	19809											
FAT3	120114	broad.mit.edu	37	chr11	92534060	92534060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagttcaagccatagatccCgatgatggagcaaattcaag	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534060C>T	ENST00000298047.6	+	9	7898	c.7881C>T	c.(7879-7881)ccC>ccT	p.P2627P	FAT3_ENST00000409404.2_Silent_p.P2627P|FAT3_ENST00000525166.1_Silent_p.P2477P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2627	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATAGATCCCGATGATGGAG	0.498										TCGA Ovarian(4;0.039)			False	0	True	11:92534060	0	T	92534060	C	T	92534060	2	4	88	1	0	0	0	0	0	0	0	1	5731	639	23	1		1	FAT3	11	92534060	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257	92534060	42472456	12098	19810											
FAT3	120114	broad.mit.edu	37	chr11	92534276	92534276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtctatatccacgtcttGccccctgaaacgttcttgcc	6	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534276G>A	ENST00000298047.6	+	9	8114	c.8097G>A	c.(8095-8097)ttG>ttA	p.L2699L	FAT3_ENST00000409404.2_Silent_p.L2699L|FAT3_ENST00000525166.1_Silent_p.L2549L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2699	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCACGTCTTGCCCCCTGAAA	0.463										TCGA Ovarian(4;0.039)			False	0	True	11:92534276	0	A	92534276	G	A	92534276	2	1	88	1	0	0	0	0	0	0	0	1	5731	1310	46	2		2	FAT3	11	92534276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216	92534276	42472240	12099	19811											
FAT3	120114	broad.mit.edu	37	chr11	92534289	92534289	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtcttgccccctgaaacgTtcttgccatcattcacccag	6	16	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534289T>G	ENST00000298047.6	+	9	8127	c.8110T>G	c.(8110-8112)Ttc>Gtc	p.F2704V	FAT3_ENST00000409404.2_Missense_Mutation_p.F2704V|FAT3_ENST00000525166.1_Missense_Mutation_p.F2554V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2704	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTGAAACGTTCTTGCCATC	0.473										TCGA Ovarian(4;0.039)			False	0	False	11:92534289	0	G	92534289	T	G	92534289	3	3	88	1	0	0	0	0	1	0	0	0	5731	1725	60	4	8144	4	FAT3	11	92534289	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13	92534289	42472227	12100	19812											
FAT3	120114	broad.mit.edu	37	chr11	92577129	92577129	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcaaaccccagcaagtTtctcacacttacatccgcgt	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92577129T>G	ENST00000298047.6	+	18	10613	c.10596T>G	c.(10594-10596)gtT>gtG	p.V3532V	FAT3_ENST00000409404.2_Silent_p.V3532V|FAT3_ENST00000525166.1_Silent_p.V3382V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3532	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCAGCAAGTTTCTCACACTT	0.443										TCGA Ovarian(4;0.039)			False	0	True	11:92577129	0	G	92577129	T	G	92577129	2	3	88	1	0	0	0	0	0	0	0	1	5731	1828	64	4		4	FAT3	11	92577129	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42840	92577129	42429387	12101	19813											
MTNR1B	4544	broad.mit.edu	37	chr11	92702921	92702921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacggctccttcgccaactgCtgcgaggcgggcgggtgggc	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92702921C>T	ENST00000257068.2	+	1	36	c.30C>T	c.(28-30)tgC>tgT	p.C10C		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	10					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TCGCCAACTGCTGCGAGGCGG	0.741													False	0	False	11:92702921	0	T	92702921	C	T	92702921	2	4	88	1	0	0	0	0	0	0	0	1	10019	805	28	2		2	MTNR1B	11	92702921	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125792	92702921	42303595	12102	19814											
SLC36A4	120103	broad.mit.edu	37	chr11	92901261	92901261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatatccttaggtcaacaCttcttctctcacaagggttt	5	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92901261C>T	ENST00000326402.4	-	7	747	c.617G>A	c.(616-618)aGt>aAt	p.S206N	SLC36A4_ENST00000529184.1_Missense_Mutation_p.S71N	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	206					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAGGTCAACACTTCTTCTCTC	0.343													False	0	False	11:92901261	0	T	92901261	C	T	92901261	3	4	88	1	0	0	0	0	1	0	0	0	14676	565	20	2	917	2	SLC36A4	11	92901261	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198340	92901261	42105255	12103	19815											
SLC36A4	120103	broad.mit.edu	37	chr11	92917667	92917667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatttcctttaagaaggtGcataagagtttgtacaaatc	7	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92917667G>A	ENST00000326402.4	-	3	329	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	67					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTAAGAAGGTGCATAAGAGTT	0.313													False	0	False	11:92917667	0	A	92917667	G	A	92917667	3	1	88	1	0	0	0	0	1	0	0	0	14676	1319	46	2	1351	2	SLC36A4	11	92917667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16406	92917667	42088849	12104	19816											
TAF1D	79101	broad.mit.edu	37	chr11	93471348	93471348	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaatgggaagccagatcctCtgcttctaaattgtttcttc	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93471348C>A	ENST00000448108.2	-	3	1036	c.386G>T	c.(385-387)aGa>aTa	p.R129I		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GCCAGATCCTCTGCTTCTAAA	0.398													False	0	False	11:93471348	0	A	93471348	C	A	93471348	3	1	88	1	0	0	0	0	1	0	0	0	15604	913	32	3	466	3	TAF1D	11	93471348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	553681	93471348	41535168	12105	19817											
C11orf54	28970	broad.mit.edu	37	chr11	93487188	93487188	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcaggtccatttcagactctCgggttcaattctgaggtcag	11	10	5	2	rs147973802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93487188C>T	ENST00000528288.1	+	5	550	c.315C>T	c.(313-315)ctC>ctT	p.L105L	C11orf54_ENST00000540113.1_Silent_p.L86L|C11orf54_ENST00000331239.4_Silent_p.L105L|C11orf54_ENST00000354421.3_Silent_p.L105L|C11orf54_ENST00000528099.1_Silent_p.L105L	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	105						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCAGACTCTCGGGTTCAATT	0.353													False	0	True	11:93487188	0	T	93487188	C	T	93487188	2	4	88	1	0	0	0	0	0	0	0	1	1657	871	31	1		1	C11orf54	11	93487188	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15840	93487188	41519328	12106	19818											
MED17	9440	broad.mit.edu	37	chr11	93526947	93526947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taataaagaatacagatctcGatctggataaaaagatacct	6	6	2	3	rs140935979		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93526947G>A	ENST00000251871.3	+	4	978	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	231					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACAGATCTCGATCTGGATAA	0.303													False	0	False	11:93526947	0	A	93526947	G	A	93526947	3	1	88	1	0	0	0	0	1	0	0	0	9502	1058	37	1	705	1	MED17	11	93526947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39759	93526947	41479569	12107	19819											
MED17	9440	broad.mit.edu	37	chr11	93529577	93529577	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttctttttataaataggCttgcagttatctatttcttt	4	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93529577C>T	ENST00000251871.3	+	7	1301	c.1014C>T	c.(1012-1014)agC>agT	p.S338S	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	338					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATAAATAGGCTTGCAGTTAT	0.333													False	0	False	11:93529577	0	T	93529577	C	T	93529577	5	4	88	1	0	0	0	0	0	0	1	0	9502	811	28	2	1040	2	MED17	11	93529577	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2630	93529577	41476939	12108	19820											
MED17	9440	broad.mit.edu	37	chr11	93540697	93540697	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaaggtccattcaactgCaattgaatattggagttgag	9	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93540697C>T	ENST00000251871.3	+	10	1767	c.1480C>T	c.(1480-1482)Caa>Taa	p.Q494*	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	494					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATTCAACTGCAATTGAATAT	0.323													False	0	False	11:93540697	0	T	93540697	C	T	93540697	4	4	88	1	0	0	0	0	0	1	0	0	9502	711	25	2	1518	2	MED17	11	93540697	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11120	93540697	41465819	12109	19821											
HEPHL1	341208	broad.mit.edu	37	chr11	93808358	93808358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatttgtgaaaccaggggCgcatgttaaaccaggtgaaa	13	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93808358C>T	ENST00000315765.9	+	9	1531	c.1523C>T	c.(1522-1524)gCg>gTg	p.A508V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	508	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAACCAGGGGCGCATGTTAAA	0.463													False	0	True	11:93808358	0	T	93808358	C	T	93808358	3	4	88	1	0	0	0	0	1	0	0	0	7102	768	27	1	1557	1	HEPHL1	11	93808358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267661	93808358	41198158	12110	19822											
HEPHL1	341208	broad.mit.edu	37	chr11	93815642	93815642	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctttgatgagaatctgagcaGatattttgatgaaaacattc	8	5	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93815642G>A	ENST00000315765.9	+	10	1783	c.1775G>A	c.(1774-1776)aGa>aAa	p.R592K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	592	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AATCTGAGCAGATATTTTGAT	0.358													False	0	False	11:93815642	0	A	93815642	G	A	93815642	3	1	88	1	0	0	0	0	1	0	0	0	7102	942	33	2	1813	2	HEPHL1	11	93815642	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7284	93815642	41190874	12111	19823											
HEPHL1	341208	broad.mit.edu	37	chr11	93826709	93826709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcactgaaaattggattggCtctcagtacaagaaggtggt	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93826709C>T	ENST00000315765.9	+	13	2345	c.2337C>T	c.(2335-2337)ggC>ggT	p.G779G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	779	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATTGGATTGGCTCTCAGTACA	0.433													False	0	False	11:93826709	0	T	93826709	C	T	93826709	2	4	88	1	0	0	0	0	0	0	0	1	7102	784	28	2		2	HEPHL1	11	93826709	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11067	93826709	41179807	12112	19824											
MRE11A	4361	broad.mit.edu	37	chr11	94192582	94192582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttagttacttacctcctcatCgattttgtcttcgagggcat	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94192582C>T	ENST00000323929.3	-	13	1714	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	MRE11A_ENST00000323977.3_Missense_Mutation_p.D498N|MRE11A_ENST00000407439.3_Missense_Mutation_p.D501N|MRE11A_ENST00000393241.4_Missense_Mutation_p.D498N	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	498					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ACCTCCTCATCGATTTTGTCT	0.358								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				False	0	False	11:94192582	0	T	94192582	C	T	94192582	3	4	88	1	0	0	0	0	1	0	0	0	9826	884	31	1	666	1	MRE11A	11	94192582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	365873	94192582	40813934	12113	19825											
ANKRD49	54851	broad.mit.edu	37	chr11	94231498	94231498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgcccaaacaaaaggcCtcttgacccccttgcatctt	5	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94231498C>T	ENST00000544612.1	+	3	1017	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L174F|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	174					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACAAAAGGCCTCTTGACCCC	0.493													False	0	False	11:94231498	0	T	94231498	C	T	94231498	3	4	88	1	0	0	0	0	1	0	0	0	675	681	24	2	526	2	ANKRD49	11	94231498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38916	94231498	40775018	12114	19826											
FUT4	2526	broad.mit.edu	37	chr11	94278557	94278557	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcgagaactcgcagcacctgGattatatcaccgagaagctc	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94278557G>T	ENST00000358752.2	+	1	1541	c.1258G>T	c.(1258-1260)Gat>Tat	p.D420Y	RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	420					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCAGCACCTGGATTATATCAC	0.667													False	0	False	11:94278557	0	T	94278557	G	T	94278557	3	4	88	1	0	0	0	0	1	0	0	0	6148	1174	41	3	1260	3	FUT4	11	94278557	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47059	94278557	40727959	12115	19827											
PIWIL4	143689	broad.mit.edu	37	chr11	94310447	94310447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgtttgtcttcttcaggttCcagtggaatacctgtgaaac	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94310447C>A	ENST00000299001.6	+	4	513	c.302C>A	c.(301-303)tCc>tAc	p.S101Y	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	101					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTTCAGGTTCCAGTGGAATA	0.328													False	0	False	11:94310447	0	A	94310447	C	A	94310447	3	1	88	1	0	0	0	0	1	0	0	0	12029	855	30	3	316	3	PIWIL4	11	94310447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31890	94310447	40696069	12116	19828											
AMOTL1	154810	broad.mit.edu	37	chr11	94533141	94533141	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccacgtccgctcgctcaGcgagagaatcatgcagctgt	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94533141G>T	ENST00000433060.2	+	3	926	c.785G>T	c.(784-786)aGc>aTc	p.S262I	AMOTL1_ENST00000317837.9_Missense_Mutation_p.S262I|AMOTL1_ENST00000317829.8_Missense_Mutation_p.S212I	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	262						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CGCTCGCTCAGCGAGAGAATC	0.622													False	0	False	11:94533141	0	T	94533141	G	T	94533141	3	4	88	1	0	0	0	0	1	0	0	0	583	971	34	3	795	3	AMOTL1	11	94533141	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222694	94533141	40473375	12117	19829											
AMOTL1	154810	broad.mit.edu	37	chr11	94554837	94554837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtgctccacagcccccGcctgccgcctcccccagcca	9	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94554837G>A	ENST00000433060.2	+	4	1404	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317829.8_Silent_p.P371P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	421						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CACAGCCCCCGCCTGCCGCCT	0.647													False	0	True	11:94554837	0	A	94554837	G	A	94554837	2	1	88	1	0	0	0	0	0	0	0	1	583	1074	38	1		1	AMOTL1	11	94554837	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21696	94554837	40451679	12118	19830											
AMOTL1	154810	broad.mit.edu	37	chr11	94602523	94602523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagactgacaagagtgcCgagctcttctggcccagcat	10	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94602523C>T	ENST00000433060.2	+	12	2790	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	AMOTL1_ENST00000317837.9_Silent_p.A470A|AMOTL1_ENST00000317829.8_Silent_p.A833A	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	883						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ACAAGAGTGCCGAGCTCTTCT	0.652													False	0	False	11:94602523	0	T	94602523	C	T	94602523	2	4	88	1	0	0	0	0	0	0	0	1	583	639	23	1		1	AMOTL1	11	94602523	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47686	94602523	40403993	12119	19831											
KDM4D	55693	broad.mit.edu	37	chr11	94731619	94731619	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccaagagctgagcacccaGaaggaagtccagttacccag	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94731619G>A	ENST00000335080.5	+	3	1915	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	KDM4D_ENST00000536741.1_Silent_p.Q361Q	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	361					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAGCACCCAGAAGGAAGTCC	0.622													False	0	True	11:94731619	0	A	94731619	G	A	94731619	2	1	88	1	0	0	0	0	0	0	0	1	8181	933	33	2		2	KDM4D	11	94731619	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129096	94731619	40274897	12120	19832											
KDM4D	55693	broad.mit.edu	37	chr11	94731922	94731922	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcagaaactgagagcTcaggagctgaccctccagac	9	15	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94731922T>G	ENST00000335080.5	+	3	2218	c.1386T>G	c.(1384-1386)gcT>gcG	p.A462A	KDM4D_ENST00000536741.1_Silent_p.A462A	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	462					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AACTGAGAGCTCAGGAGCTGA	0.607													False	0	False	11:94731922	0	G	94731922	T	G	94731922	2	3	88	1	0	0	0	0	0	0	0	1	8181	1538	54	4		4	KDM4D	11	94731922	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	303	94731922	40274594	12121	19833											
KDM4D	55693	broad.mit.edu	37	chr11	94732006	94732006	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgggcccagaacctgagccCctacctgaggatggggcttt	13	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94732006C>A	ENST00000335080.5	+	3	2302	c.1470C>A	c.(1468-1470)ccC>ccA	p.P490P	KDM4D_ENST00000536741.1_Silent_p.P490P	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	490					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AACCTGAGCCCCTACCTGAGG	0.622													False	0	True	11:94732006	0	A	94732006	C	A	94732006	2	1	88	1	0	0	0	0	0	0	0	1	8181	610	22	3		3	KDM4D	11	94732006	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84	94732006	40274510	12122	19834											
SESN3	143686	broad.mit.edu	37	chr11	94908712	94908712	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actatcatacatgcgttttgTagttctctcaggatagcagg	9	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94908712T>C	ENST00000536441.1	-	9	1678	c.1342A>G	c.(1342-1344)Aca>Gca	p.T448A	RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.T309A	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	448					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ATGCGTTTTGTAGTTCTCTCA	0.368													False	0	False	11:94908712	0	C	94908712	T	C	94908712	3	2	88	1	0	0	0	0	1	0	0	0	14207	1638	57	4	144	4	SESN3	11	94908712	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176706	94908712	40097804	12123	19835											
SESN3	143686	broad.mit.edu	37	chr11	94924617	94924617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaggggaccatccatgCgcaacatgtaaaactggctc	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94924617C>T	ENST00000536441.1	-	3	629	c.293G>A	c.(292-294)cGc>cAc	p.R98H	RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.R98H|SESN3_ENST00000416495.2_Missense_Mutation_p.R98H|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.R20H	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	98					cell cycle arrest	nucleus		p.R98L(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ACCATCCATGCGCAACATGTA	0.443													False	0	False	11:94924617	0	T	94924617	C	T	94924617	3	4	88	1	0	0	0	0	1	0	0	0	14207	768	27	1	1217	1	SESN3	11	94924617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15905	94924617	40081899	12124	19836											
SESN3	143686	broad.mit.edu	37	chr11	94924736	94924736	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttccacaagaaagttagtAcgttcatccactgtgtttgc	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94924736A>G	ENST00000536441.1	-	3	510	c.174T>C	c.(172-174)cgT>cgC	p.R58R	RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000393234.1_Silent_p.R58R|SESN3_ENST00000416495.2_Silent_p.R58R|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000537480.1_5'UTR|SESN3_ENST00000278499.2_5'UTR	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	58					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GAAAGTTAGTACGTTCATCCA	0.383													False	0	False	11:94924736	0	G	94924736	A	G	94924736	2	3	88	1	0	0	0	0	0	0	0	1	14207	378	14	4		4	SESN3	11	94924736	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	119	94924736	40081780	12125	19837											
FAM76B	143684	broad.mit.edu	37	chr11	95519306	95519306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttcttccttcctccttccGatcaaaagcacattgctgtt	4	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95519306G>A	ENST00000358780.5	-	4	652	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	FAM76B_ENST00000536839.1_Missense_Mutation_p.R114W	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	114										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTCCTTCCGATCAAAAGCA	0.353													False	0	False	11:95519306	0	A	95519306	G	A	95519306	3	1	88	1	0	0	0	0	1	0	0	0	5665	1057	37	1	707	1	FAM76B	11	95519306	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	594570	95519306	39487210	12126	19838											
CEP57	9702	broad.mit.edu	37	chr11	95555146	95555146	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaaccaccagaaaaggtgTgaagacagaaccaaatcagg	9	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95555146T>G	ENST00000538658.1	+	7	851	c.811T>G	c.(811-813)Tga>Gga	p.*271G	CEP57_ENST00000541150.1_Intron|CEP57_ENST00000325542.5_Intron|CEP57_ENST00000325486.5_Intron|CEP57_ENST00000537677.1_Intron			Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	0					fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGAAAAGGTGTGAAGACAGAA	0.358									Mosaic Variegated Aneuploidy Syndrome				False	0	False	11:95555146	0	G	95555146	T	G	95555146	4	3	88	1	0	0	0	0	0	0	0	0	3279	1711	59	4		4	CEP57	11	95555146	Nonstop_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	35840	95555146	39451370	12127	19839											
MTMR2	8898	broad.mit.edu	37	chr11	95582947	95582947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttttcatcttctttgcttCgctttccactcactccaacc	2	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95582947C>T	ENST00000393223.3	-	11	1330	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	MTMR2_ENST00000346299.5_Missense_Mutation_p.R295Q|MTMR2_ENST00000352297.7_Missense_Mutation_p.R223Q|MTMR2_ENST00000409459.1_Missense_Mutation_p.R223Q	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	295	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCTTTGCTTCGCTTTCCACT	0.413													False	0	False	11:95582947	0	T	95582947	C	T	95582947	3	4	88	1	0	0	0	0	1	0	0	0	10011	884	31	1	1075	1	MTMR2	11	95582947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27801	95582947	39423569	12128	19840											
MAML2	84441	broad.mit.edu	37	chr11	95712362	95712362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtggctggttgatgcccGtcctcgactgattcaaccct	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95712362G>A	ENST00000524717.1	-	5	4505	c.3221C>T	c.(3220-3222)aCg>aTg	p.T1074M		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1074					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTTGATGCCCGTCCTCGACTG	0.507			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								False	0	True	11:95712362	0	A	95712362	G	A	95712362	3	1	88	1	0	0	0	0	1	0	0	0	9273	1145	40	1	253	1	MAML2	11	95712362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129415	95712362	39294154	12129	19841											
MAML2	84441	broad.mit.edu	37	chr11	95713041	95713041	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgagaagtagacaggaGgctggaattgggagttaaaa	15	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95713041G>T	ENST00000524717.1	-	5	3826	c.2542C>A	c.(2542-2544)Ctc>Atc	p.L848I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	848					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTAGACAGGAGGCTGGAATTG	0.423			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								False	0	False	11:95713041	0	T	95713041	G	T	95713041	3	4	88	1	0	0	0	0	1	0	0	0	9273	1000	35	3	932	3	MAML2	11	95713041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	679	95713041	39293475	12130	19842											
MAML2	84441	broad.mit.edu	37	chr11	95825100	95825100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatcccattcctgcaatggGctgattctgcatttgctgaa	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95825100G>A	ENST00000524717.1	-	2	3379	c.2095C>T	c.(2095-2097)Ccc>Tcc	p.P699S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	699					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCTGCAATGGGCTGATTCTGC	0.478			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								False	0	True	11:95825100	0	A	95825100	G	A	95825100	3	1	88	1	0	0	0	0	1	0	0	0	9273	1203	42	2	1391	2	MAML2	11	95825100	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112059	95825100	39181416	12131	19843											
CCDC82	79780	broad.mit.edu	37	chr11	96092228	96092228	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctttaacttgttcatcttCaacttcttctgtcattgcaa	3	10	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96092228C>T	ENST00000278520.5	-	8	1923	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	CCDC82_ENST00000423339.2_Missense_Mutation_p.E499K|CCDC82_ENST00000542662.1_Missense_Mutation_p.E499K			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	499							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TGTTCATCTTCAACTTCTTCT	0.348													False	0	False	11:96092228	0	T	96092228	C	T	96092228	3	4	88	1	0	0	0	0	1	0	0	0	2877	835	29	2	147	2	CCDC82	11	96092228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267128	96092228	38914288	12132	19844											
CCDC82	79780	broad.mit.edu	37	chr11	96098310	96098310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattagaataattttctactCgctcctgaaaacaaaaaata	3	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96098310C>T	ENST00000278520.5	-	7	1642	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	CCDC82_ENST00000423339.2_Missense_Mutation_p.R405Q|CCDC82_ENST00000542662.1_Missense_Mutation_p.R405Q			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	405							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATTTTCTACTCGCTCCTGaaa	0.289													False	0	False	11:96098310	0	T	96098310	C	T	96098310	3	4	88	1	0	0	0	0	1	0	0	0	2877	884	31	1	432	1	CCDC82	11	96098310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6082	96098310	38908206	12133	19845											
CCDC82	79780	broad.mit.edu	37	chr11	96117513	96117513	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgttgagatcattatcCtcttgacttaaatgtttttc	6	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96117513C>A	ENST00000278520.5	-	3	827	c.399G>T	c.(397-399)gaG>gaT	p.E133D	CCDC82_ENST00000423339.2_Missense_Mutation_p.E133D|CCDC82_ENST00000542662.1_Missense_Mutation_p.E133D			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	133							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GATCATTATCCTCTTGACTTA	0.323													False	0	False	11:96117513	0	A	96117513	C	A	96117513	3	1	88	1	0	0	0	0	1	0	0	0	2877	680	24	3	1263	3	CCDC82	11	96117513	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19203	96117513	38889003	12134	19846											
CNTN5	53942	broad.mit.edu	37	chr11	99690411	99690411	+	Silent	SNP	T	T	G													tcattaggaacactgagtgcTtcttcacccagctggctagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99690411T>G	ENST00000524871.1	+	4	482	c.192T>G	c.(190-192)gcT>gcG	p.A64A	CNTN5_ENST00000279463.3_Silent_p.A64A|CNTN5_ENST00000527185.1_Silent_p.A64A|CNTN5_ENST00000528682.1_Silent_p.A64A|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	64					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CACTGAGTGCTTCTTCACCCA	0.428													False	0	False	11:99690411	0	G	99690411	T	G	99690411	2	3	88	1	0	0	0	0	0	0	0	1	3667	1596	56	4		4	CNTN5	11	99690411	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3572898	99690411	35316105	12135	19847	224	2									
CNTN5	53942	broad.mit.edu	37	chr11	99690413	99690413	+	Missense_Mutation	SNP	C	C	T													attaggaacactgagtgcttCttcacccagctggctagggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99690413C>T	ENST00000524871.1	+	4	484	c.194C>T	c.(193-195)tCt>tTt	p.S65F	CNTN5_ENST00000279463.3_Missense_Mutation_p.S65F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S65F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S65F|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	65					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTGAGTGCTTCTTCACCCAGC	0.428													False	0	False	11:99690413	0	T	99690413	C	T	99690413	3	4	88	1	0	0	0	0	1	0	0	0	3667	913	32	2	200	2	CNTN5	11	99690413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2	99690413	35316103	12136	19848	224	2									
CNTN5	53942	broad.mit.edu	37	chr11	99872819	99872819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccattttcctttcacggttAcagctgctaaaggaacaact	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99872819A>G	ENST00000524871.1	+	9	1221	c.931A>G	c.(931-933)Aca>Gca	p.T311A	CNTN5_ENST00000279463.3_Missense_Mutation_p.T311A|CNTN5_ENST00000527185.1_Missense_Mutation_p.T311A|CNTN5_ENST00000528682.1_Missense_Mutation_p.T311A|CNTN5_ENST00000418526.2_Missense_Mutation_p.T237A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	311	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTCACGGTTACAGCTGCTAA	0.338													False	0	False	11:99872819	0	G	99872819	A	G	99872819	3	3	88	1	0	0	0	0	1	0	0	0	3667	391	14	4	957	4	CNTN5	11	99872819	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	182406	99872819	35133697	12137	19849											
PGR	5241	broad.mit.edu	37	chr11	100996859	100996859	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtaatgactcgaagctgtaTtgtgggctctggctggcttc	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100996859T>G	ENST00000325455.5	-	2	3121	c.1668A>C	c.(1666-1668)caA>caC	p.Q556H	PGR_ENST00000263463.5_Missense_Mutation_p.Q556H|PGR_ENST00000534013.1_5'UTR	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	556	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CGAAGCTGTATTGTGGGCTCT	0.418													False	0	False	11:100996859	0	G	100996859	T	G	100996859	3	3	88	1	0	0	0	0	1	0	0	0	11874	1490	52	4	1161	4	PGR	11	100996859	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1124040	100996859	34009657	12138	19850											
PGR	5241	broad.mit.edu	37	chr11	100998653	100998653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctttatctttagagcGggcggctggaagtcgctata	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100998653G>A	ENST00000325455.5	-	1	2602	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	PGR_ENST00000263463.5_Silent_p.P383P|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	383	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCTTTAGAGCGGGCGGCTGGA	0.682													False	0	True	11:100998653	0	A	100998653	G	A	100998653	2	1	88	1	0	0	0	0	0	0	0	1	11874	1103	39	1		1	PGR	11	100998653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1794	100998653	34007863	12139	19851											
PGR	5241	broad.mit.edu	37	chr11	100998847	100998847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccagcagctgccgagtgcGggctgccaataaggcgtgat	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100998847G>A	ENST00000325455.5	-	1	2408	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	PGR_ENST00000263463.5_Missense_Mutation_p.R319C|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	319	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGCCGAGTGCGGGCTGCCAAT	0.687													False	0	True	11:100998847	0	A	100998847	G	A	100998847	3	1	88	1	0	0	0	0	1	0	0	0	11874	1116	39	1	1878	1	PGR	11	100998847	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194	100998847	34007669	12140	19852											
PGR	5241	broad.mit.edu	37	chr11	100999149	100999149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcctcaacctccaccGcagcggcctgcggagacggc	10	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100999149G>A	ENST00000325455.5	-	1	2106	c.653C>T	c.(652-654)gCg>gTg	p.A218V	PGR_ENST00000263463.5_Missense_Mutation_p.A218V|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	218	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AACCTCCACCGCAGCGGCCTG	0.711													False	0	False	11:100999149	0	A	100999149	G	A	100999149	3	1	88	1	0	0	0	0	1	0	0	0	11874	1087	38	1	2180	1	PGR	11	100999149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302	100999149	34007367	12141	19853											
TRPC6	7225	broad.mit.edu	37	chr11	101342042	101342042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccagattgaagggtacagGaagtgttctgccctcctcaa	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101342042G>A	ENST00000344327.3	-	9	2705	c.2281C>T	c.(2281-2283)Cct>Tct	p.P761S	TRPC6_ENST00000532133.1_Missense_Mutation_p.P683S|TRPC6_ENST00000360497.4_Missense_Mutation_p.P706S|TRPC6_ENST00000348423.4_Missense_Mutation_p.P645S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	761					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGGGTACAGGAAGTGTTCTG	0.438													False	0	False	11:101342042	0	A	101342042	G	A	101342042	3	1	88	1	0	0	0	0	1	0	0	0	16666	1174	41	2	534	2	TRPC6	11	101342042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342893	101342042	33664474	12142	19854											
TRPC6	7225	broad.mit.edu	37	chr11	101342956	101342956	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattatagactccataaagaAcgtaaccaatgttttcaatg	5	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101342956A>G	ENST00000344327.3	-	8	2541	c.2117T>C	c.(2116-2118)gTt>gCt	p.V706A	TRPC6_ENST00000532133.1_Missense_Mutation_p.V628A|TRPC6_ENST00000360497.4_Missense_Mutation_p.V651A|TRPC6_ENST00000348423.4_Missense_Mutation_p.V590A	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	706					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCCATAAAGAACGTAACCAAT	0.338													False	0	False	11:101342956	0	G	101342956	A	G	101342956	3	3	88	1	0	0	0	0	1	0	0	0	16666	43	2	4	702	4	TRPC6	11	101342956	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	914	101342956	33663560	12143	19855											
TRPC6	7225	broad.mit.edu	37	chr11	101353865	101353865	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcgtgtgctacaaacTtcatgaatggtccacgcatt	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101353865T>G	ENST00000344327.3	-	5	1749	c.1325A>C	c.(1324-1326)aAg>aCg	p.K442T	TRPC6_ENST00000532133.1_Missense_Mutation_p.K442T|TRPC6_ENST00000360497.4_Missense_Mutation_p.K387T|TRPC6_ENST00000348423.4_Missense_Mutation_p.K326T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	442					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGCTACAAACTTCATGAATGG	0.413													False	0	False	11:101353865	0	G	101353865	T	G	101353865	3	3	88	1	0	0	0	0	1	0	0	0	16666	1609	56	4	1506	4	TRPC6	11	101353865	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10909	101353865	33652651	12144	19856											
TRPC6	7225	broad.mit.edu	37	chr11	101374763	101374763	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttagtgacctaccttgaactCtttctcaatattggccagaa	6	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101374763C>T	ENST00000344327.3	-	2	1361	c.937G>A	c.(937-939)Gag>Aag	p.E313K	TRPC6_ENST00000532133.1_Missense_Mutation_p.E313K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E313K|TRPC6_ENST00000348423.4_Missense_Mutation_p.E313K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	313					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACCTTGAACTCTTTCTCAATA	0.473													False	0	True	11:101374763	0	T	101374763	C	T	101374763	3	4	88	1	0	0	0	0	1	0	0	0	16666	922	32	2	1906	2	TRPC6	11	101374763	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20898	101374763	33631753	12145	19857											
C11orf70	85016	broad.mit.edu	37	chr11	101951987	101951987	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caagaaaatacagattacctCttctgtctttaaagtttcag	5	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101951987C>A	ENST00000434758.2	+	6	678	c.650C>A	c.(649-651)tCt>tAt	p.S217Y	C11orf70_ENST00000526781.1_Missense_Mutation_p.S217Y	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	217										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CAGATTACCTCTTCTGTCTTT	0.294													False	0	False	11:101951987	0	A	101951987	C	A	101951987	3	1	88	1	0	0	0	0	1	0	0	0	1667	913	32	3	554	3	C11orf70	11	101951987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	577224	101951987	33054529	12146	19858											
YAP1	10413	broad.mit.edu	37	chr11	102033283	102033283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccaccagtgcagcagaaTatgatgaactcggcttcagg	11	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102033283T>C	ENST00000282441.5	+	3	1057	c.669T>C	c.(667-669)aaT>aaC	p.N223N	YAP1_ENST00000524575.1_Silent_p.N45N|YAP1_ENST00000537274.1_Silent_p.N223N|YAP1_ENST00000345877.2_Silent_p.N223N|YAP1_ENST00000526343.1_Silent_p.N223N|YAP1_ENST00000531439.1_Silent_p.N223N	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	223					cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TGCAGCAGAATATGATGAACT	0.478													False	0	False	11:102033283	0	C	102033283	T	C	102033283	2	2	88	1	0	0	0	0	0	0	0	1	17550	1403	49	4		4	YAP1	11	102033283	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81296	102033283	32973233	12147	19859											
BIRC2	329	broad.mit.edu	37	chr11	102220830	102220830	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgaatgacaaggtcaAatgcttctgttgtggcctga	13	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102220830A>G	ENST00000227758.2	+	2	1644	c.245A>G	c.(244-246)aAa>aGa	p.K82R	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.K61R|BIRC2_ENST00000530675.1_Missense_Mutation_p.K33R	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	82					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GACAAGGTCAAATGCTTCTGT	0.428													False	0	True	11:102220830	0	G	102220830	A	G	102220830	3	3	88	1	0	0	0	0	1	0	0	0	1440	14	1	4	247	4	BIRC2	11	102220830	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	187547	102220830	32785686	12148	19860											
MMP7	4316	broad.mit.edu	37	chr11	102394121	102394121	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgagttgcagcatacaGgaagttaatccctacaaccg	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102394121G>T	ENST00000260227.4	-	5	677	c.625C>A	c.(625-627)Ctg>Atg	p.L209M		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	209					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		GCAGCATACAGGAAGTTAATC	0.343													False	0	False	11:102394121	0	T	102394121	G	T	102394121	3	4	88	1	0	0	0	0	1	0	0	0	9734	991	35	3	186	3	MMP7	11	102394121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173291	102394121	32612395	12149	19861											
MMP8	4317	broad.mit.edu	37	chr11	102584189	102584189	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgaagacatggaagaaatCtataaaaaaagagagataat	8	3	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102584189C>A	ENST00000236826.3	-	10	1393		c.e10-1			NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)						collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		TGGAAGAAATCTATAAAAAAA	0.353													False	0	False	11:102584189	0	A	102584189	C	A	102584189	5	1	88	1	0	0	0	0	0	0	1	0	9735	927	32	3	113	3	MMP8	11	102584189	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190068	102584189	32422327	12150	19862											
MMP8	4317	broad.mit.edu	37	chr11	102595565	102595565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atggagtaagagcagaaatgGaagcgtcttcagggagaaca	14	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102595565G>A	ENST00000236826.3	-	1	120	c.22C>T	c.(22-24)Cca>Tca	p.P8S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	8					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		AGCAGAAATGGAAGCGTCTTC	0.458													False	0	False	11:102595565	0	A	102595565	G	A	102595565	3	1	88	1	0	0	0	0	1	0	0	0	9735	1174	41	2	1421	2	MMP8	11	102595565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11376	102595565	32410951	12151	19863											
MMP10	4319	broad.mit.edu	37	chr11	102647433	102647433	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtagagtgggtacatcaaagCttcagtgttggctgagtgaa	14	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102647433C>A	ENST00000279441.4	-	5	733	c.697G>T	c.(697-699)Gct>Tct	p.A233S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	233					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TACATCAAAGCTTCAGTGTTG	0.473													False	0	False	11:102647433	0	A	102647433	C	A	102647433	3	1	88	1	0	0	0	0	1	0	0	0	9716	797	28	3	757	3	MMP10	11	102647433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51868	102647433	32359083	12152	19864											
MMP12	4321	broad.mit.edu	37	chr11	102733744	102733744	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatgatacatatctctaaGtagtggtacactgaggacat	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102733744G>A	ENST00000532855.1	-	0	1595							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	ATATCTCTAAGTAGTGGTACA	0.264													False	0	False	11:102733744	0	A	102733744	G	A	102733744	1	1	88	0	1	0	0	0	0	0	0	0	9718	1044	36	2		2	MMP12	11	102733744	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86311	102733744	32272772	12153	19865											
MMP13	4322	broad.mit.edu	37	chr11	102820881	102820881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcggagactggtaatgGcatcaagggataaggaaggg	15	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102820881G>A	ENST00000260302.3	-	6	903	c.875C>T	c.(874-876)gCc>gTc	p.A292V	MMP13_ENST00000340273.4_Missense_Mutation_p.A292V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	292	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ACTGGTAATGGCATCAAGGGA	0.443													False	0	False	11:102820881	0	A	102820881	G	A	102820881	3	1	88	1	0	0	0	0	1	0	0	0	9719	1203	42	2	560	2	MMP13	11	102820881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87137	102820881	32185635	12154	19866											
DYNC2H1	79659	broad.mit.edu	37	chr11	102980404	102980404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatcagccactgttgtGcaactgtcttgaaatcaaca	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102980404G>A	ENST00000375735.2	+	1	245	c.101G>A	c.(100-102)tGc>tAc	p.C34Y	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.C34Y|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.C34Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	34	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCACTGTTGTGCAACTGTCTT	0.517													False	0	False	11:102980404	0	A	102980404	G	A	102980404	3	1	88	1	0	0	0	0	1	0	0	0	4876	1319	46	2	103	2	DYNC2H1	11	102980404	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159523	102980404	32026112	12155	19867											
DYNC2H1	79659	broad.mit.edu	37	chr11	103062952	103062952	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcattttaacatcagtgtTtcaaggagattggggctcag	10	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103062952T>G	ENST00000375735.2	+	47	7811	c.7667T>G	c.(7666-7668)tTt>tGt	p.F2556C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.F2556C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2556					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACATCAGTGTTTCAAGGAGAT	0.343													False	0	True	11:103062952	0	G	103062952	T	G	103062952	3	3	88	1	0	0	0	0	1	0	0	0	4876	1841	64	4	7853	4	DYNC2H1	11	103062952	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	82548	103062952	31943564	12156	19868											
DYNC2H1	79659	broad.mit.edu	37	chr11	103086499	103086499	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctcttgtggatgaactgaAcagaaaagctggagaacaaa	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103086499A>T	ENST00000375735.2	+	55	8888	c.8744A>T	c.(8743-8745)aAc>aTc	p.N2915I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2915I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2915	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATGAACTGAACAGAAAAGCT	0.353													False	0	True	11:103086499	0	T	103086499	A	T	103086499	3	4	88	1	0	0	0	0	1	0	0	0	4876	43	2	5	8962	5	DYNC2H1	11	103086499	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23547	103086499	31920017	12157	19869											
DYNC2H1	79659	broad.mit.edu	37	chr11	103093703	103093703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatttttcagaatgctaagCgtgccagtactgcagctgca	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103093703C>T	ENST00000375735.2	+	59	9385	c.9241C>T	c.(9241-9243)Cgt>Tgt	p.R3081C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3081C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3081	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAATGCTAAGCGTGCCAGTAC	0.398													False	0	False	11:103093703	0	T	103093703	C	T	103093703	3	4	88	1	0	0	0	0	1	0	0	0	4876	768	27	1	9475	1	DYNC2H1	11	103093703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7204	103093703	31912813	12158	19870											
DYNC2H1	79659	broad.mit.edu	37	chr11	103158293	103158293	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaggcgctaagaccggacaGattgcaaagtgccatggctc	12	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103158293G>T	ENST00000375735.2	+	75	11198	c.11054G>T	c.(11053-11055)aGa>aTa	p.R3685I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3692I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3685					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGACCGGACAGATTGCAAAGT	0.323													False	0	False	11:103158293	0	T	103158293	G	T	103158293	3	4	88	1	0	0	0	0	1	0	0	0	4876	942	33	3	11377	3	DYNC2H1	11	103158293	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64590	103158293	31848223	12159	19871											
DYNC2H1	79659	broad.mit.edu	37	chr11	103191850	103191850	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actattttgaccttagagttCttcagtcatacctgaagcag	7	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103191850C>T	ENST00000375735.2	+	81	11962	c.11818C>T	c.(11818-11820)Ctt>Ttt	p.L3940F	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3947F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3940					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCTTAGAGTTCTTCAGTCATA	0.333													False	0	False	11:103191850	0	T	103191850	C	T	103191850	3	4	88	1	0	0	0	0	1	0	0	0	4876	913	32	2	12165	2	DYNC2H1	11	103191850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33557	103191850	31814666	12160	19872											
DDI1	414301	broad.mit.edu	37	chr11	103907738	103907738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaccactgttccctgggctCctacggcctcaaagatggcg	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103907738C>T	ENST00000302259.3	+	1	431	c.188C>T	c.(187-189)tCc>tTc	p.S63F	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	63	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCCTGGGCTCCTACGGCCTC	0.582													False	0	False	11:103907738	0	T	103907738	C	T	103907738	3	4	88	1	0	0	0	0	1	0	0	0	4353	855	30	2	190	2	DDI1	11	103907738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	715888	103907738	31098778	12161	19873											
DDI1	414301	broad.mit.edu	37	chr11	103908400	103908400	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcatgaggctggtggacCgacggtgggctggggttgct	18	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103908400C>T	ENST00000302259.3	+	1	1093	c.850C>T	c.(850-852)Cga>Tga	p.R284*	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	284					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCTGGTGGACCGACGGTGGGC	0.512													False	0	False	11:103908400	0	T	103908400	C	T	103908400	4	4	88	1	0	0	0	0	0	1	0	0	4353	644	23	1	852	1	DDI1	11	103908400	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	662	103908400	31098116	12162	19874											
CASP4	837	broad.mit.edu	37	chr11	104820346	104820346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttgcggttgttgaatatctgGaagatggtgtcataaagcag	13	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104820346G>T	ENST00000444739.2	-	5	1615	c.705C>A	c.(703-705)ttC>ttA	p.F235L	CASP4_ENST00000393150.3_Missense_Mutation_p.F179L	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	235					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.F235F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGAATATCTGGAAGATGGTGT	0.483													False	0	False	11:104820346	0	T	104820346	G	T	104820346	3	4	88	1	0	0	0	0	1	0	0	0	2693	1165	41	3	444	3	CASP4	11	104820346	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	911946	104820346	30186170	12163	19875											
CASP4	837	broad.mit.edu	37	chr11	104822727	104822727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtccagcctccatattcgGatgagctgcaggatattgca	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104822727G>A	ENST00000444739.2	-	3	1178	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	CASP4_ENST00000531333.1_Intron|CASP4_ENST00000393150.3_Missense_Mutation_p.P34S	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	90	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TCCATATTCGGATGAGCTGCA	0.443													False	0	False	11:104822727	0	A	104822727	G	A	104822727	3	1	88	1	0	0	0	0	1	0	0	0	2693	1174	41	2	889	2	CASP4	11	104822727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2381	104822727	30183789	12164	19876											
CASP5	838	broad.mit.edu	37	chr11	104871201	104871201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggtctggcagcaaatgCcctcagcactgactccatat	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104871201C>T	ENST00000393141.2	-	6	809	c.778G>A	c.(778-780)Gca>Aca	p.A260T	CASP5_ENST00000526056.1_Missense_Mutation_p.A260T|CASP5_ENST00000444749.2_Missense_Mutation_p.A189T|CASP5_ENST00000531367.1_Missense_Mutation_p.A105T|CASP5_ENST00000418434.1_Missense_Mutation_p.A105T|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000260315.3_Missense_Mutation_p.A247T	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	247					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GCAGCAAATGCCCTCAGCACT	0.458													False	0	True	11:104871201	0	T	104871201	C	T	104871201	3	4	88	1	0	0	0	0	1	0	0	0	2694	739	26	2	581	2	CASP5	11	104871201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48474	104871201	30135315	12165	19877											
CASP5	838	broad.mit.edu	37	chr11	104872894	104872894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatatgatgagagccaggCgtctgcggtcctctctcttt	11	11	3	2	rs142438968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104872894C>T	ENST00000393141.2	-	5	648	c.617G>A	c.(616-618)cGc>cAc	p.R206H	CASP5_ENST00000526056.1_Missense_Mutation_p.R206H|CASP5_ENST00000444749.2_Missense_Mutation_p.R135H|CASP5_ENST00000531367.1_Missense_Mutation_p.R51H|CASP5_ENST00000418434.1_Missense_Mutation_p.R51H|CASP5_ENST00000393139.2_Silent_p.T123T|CASP5_ENST00000260315.3_Missense_Mutation_p.R193H	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	193					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GAGAGCCAGGCGTCTGCGGTC	0.483													False	0	False	11:104872894	0	T	104872894	C	T	104872894	3	4	88	1	0	0	0	0	1	0	0	0	2694	768	27	1	746	1	CASP5	11	104872894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1693	104872894	30133622	12166	19878											
CASP5	838	broad.mit.edu	37	chr11	104879584	104879584	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taggtactagggtctggataGatgtttgtccagccacgttg	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104879584G>T	ENST00000393141.2	-	2	201	c.170C>A	c.(169-171)tCt>tAt	p.S57Y	CASP5_ENST00000526056.1_Missense_Mutation_p.S57Y|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_Missense_Mutation_p.S11Y|CASP5_ENST00000260315.3_Missense_Mutation_p.S44Y	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	44	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GGTCTGGATAGATGTTTGTCC	0.363													False	0	False	11:104879584	0	T	104879584	G	T	104879584	3	4	88	1	0	0	0	0	1	0	0	0	2694	942	33	3	1205	3	CASP5	11	104879584	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6690	104879584	30126932	12167	19879											
CASP1	834	broad.mit.edu	37	chr11	104900402	104900402	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcactcaccaccacggcaGgcctggatgatgatcacctt	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104900402G>T	ENST00000533400.1	-	6	887	c.852C>A	c.(850-852)gcC>gcA	p.A284A	CASP1_ENST00000525825.1_Silent_p.A263A|CASP1_ENST00000598974.1_Silent_p.A284A|CASP1_ENST00000393136.4_Silent_p.A263A|CASP1_ENST00000594519.1_Silent_p.A191A|CASP1_ENST00000436863.3_Silent_p.A284A|CASP1_ENST00000593315.1_Silent_p.A263A|CASP1_ENST00000527979.1_Silent_p.A247A|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000526568.1_Silent_p.A191A|CASP1_ENST00000534497.1_Silent_p.A191A|CASP1_ENST00000446369.1_Silent_p.A191A|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000528974.1_Silent_p.A245A	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	284					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CACCACGGCAGGCCTGGATGA	0.418													False	0	False	11:104900402	0	T	104900402	G	T	104900402	2	4	88	1	0	0	0	0	0	0	0	1	2688	987	35	3		3	CASP1	11	104900402	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20818	104900402	30106114	12168	19880											
CARD17	440068	broad.mit.edu	37	chr11	104971328	104971328	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgctggagcccctttccgAataacagagtcaagcaaagc	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104971328A>G	ENST00000375707.1	-	2	202	c.186T>C	c.(184-186)atT>atC	p.I62I	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000525374.1_Intron	NM_001007232.1	NP_001007233.1			caspase recruitment domain family, member 17											breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						CCCCTTTCCGAATAACAGAGT	0.473													False	0	False	11:104971328	0	G	104971328	A	G	104971328	2	3	88	1	0	0	0	0	0	0	0	1	2668	242	9	4		4	CARD17	11	104971328	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70926	104971328	30035188	12169	19881											
GRIA4	0	broad.mit.edu	37	chr11	105797622	105797622	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccaaacaaacagaaattgCctatggaacactggattcag	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105797622C>A	ENST00000393127.2	+	13	2449	c.2003C>A	c.(2002-2004)gCc>gAc	p.A668D	GRIA4_ENST00000282499.5_Missense_Mutation_p.A668D|GRIA4_ENST00000530497.1_Missense_Mutation_p.A668D|GRIA4_ENST00000525187.1_Missense_Mutation_p.A668D	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	668					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACAGAAATTGCCTATGGAACA	0.378													False	0	False	11:105797622	0	A	105797622	C	A	105797622	3	1	88	1	0	0	0	0	1	0	0	0	6817	739	26	3	2086	3	GRIA4	11	105797622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	826294	105797622	29208894	12170	19882											
KBTBD3	143879	broad.mit.edu	37	chr11	105924236	105924236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataactgatgtatgcatggTtcttggtgttttcatagttg	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105924236T>C	ENST00000526793.1	-	3	1339	c.1180A>G	c.(1180-1182)Acc>Gcc	p.T394A	KBTBD3_ENST00000531837.1_Missense_Mutation_p.T394A|KBTBD3_ENST00000534815.1_Missense_Mutation_p.T315A	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	390										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GTATGCATGGTTCTTGGTGTT	0.388													False	0	False	11:105924236	0	C	105924236	T	C	105924236	3	2	88	1	0	0	0	0	1	0	0	0	8044	1725	60	4	662	4	KBTBD3	11	105924236	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126614	105924236	29082280	12171	19883											
KBTBD3	143879	broad.mit.edu	37	chr11	105929591	105929591	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcatagacaaggtaaagtaCctgaaaaagtcactgcatgc	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105929591C>A	ENST00000526793.1	-	2	393		c.e2+1		KBTBD3_ENST00000531482.2_Splice_Site|KBTBD3_ENST00000531837.1_Splice_Site|KBTBD3_ENST00000534815.1_Intron	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3											NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AGGTAAAGTACCTGAAAAAGT	0.323													False	0	False	11:105929591	0	A	105929591	C	A	105929591	5	1	88	1	0	0	0	0	0	0	1	0	8044	521	18	3	1612	3	KBTBD3	11	105929591	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5355	105929591	29076925	12172	19884											
AASDHPPT	60496	broad.mit.edu	37	chr11	105950319	105950319	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactcatcgaatccttacccGaatttcaactttaacatctc	3	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105950319G>A	ENST00000278618.4	+	2	531	c.309G>A	c.(307-309)ccG>ccA	p.P103P		NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	103					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	p.P103P(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		ATCCTTACCCGAATTTCAACT	0.393													False	0	True	11:105950319	0	A	105950319	G	A	105950319	2	1	88	1	0	0	0	0	0	0	0	1	23	1045	37	1		1	AASDHPPT	11	105950319	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20728	105950319	29056197	12173	19885											
CWF19L2	143884	broad.mit.edu	37	chr11	107309826	107309826	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagaaatacctttagtaatCgatgacacactacagtcttc	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107309826C>T	ENST00000282251.5	-	6	681	c.654G>A	c.(652-654)tcG>tcA	p.S218S	CWF19L2_ENST00000433523.1_Silent_p.S218S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	218							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CTTTAGTAATCGATGACACAC	0.388													False	0	False	11:107309826	0	T	107309826	C	T	107309826	2	4	88	1	0	0	0	0	0	0	0	1	4097	871	31	1		1	CWF19L2	11	107309826	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1359507	107309826	27696690	12174	19886											
ELMOD1	55531	broad.mit.edu	37	chr11	107501173	107501173	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtatgcctgtatttttaCtgtaaatttctgtggcgctg	10	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107501173C>A	ENST00000265840.7	+	3	313	c.48C>A	c.(46-48)taC>taA	p.Y16*	ELMOD1_ENST00000443271.2_Nonsense_Mutation_p.Y16*|ELMOD1_ENST00000531234.1_Nonsense_Mutation_p.Y10*	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	16					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TGTATTTTTACTGTAAATTTC	0.428													False	0	False	11:107501173	0	A	107501173	C	A	107501173	4	1	88	1	0	0	0	0	0	1	0	0	5100	576	20	3	54	3	ELMOD1	11	107501173	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191347	107501173	27505343	12175	19887											
ELMOD1	55531	broad.mit.edu	37	chr11	107535879	107535879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaacccagacatggcgCtgtgcccacattttgctgcc	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107535879C>T	ENST00000265840.7	+	12	1226	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	ELMOD1_ENST00000443271.2_Silent_p.L313L|ELMOD1_ENST00000531234.1_Silent_p.L315L	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	321					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGACATGGCGCTGTGCCCACA	0.478													False	0	False	11:107535879	0	T	107535879	C	T	107535879	2	4	88	1	0	0	0	0	0	0	0	1	5100	796	28	2		2	ELMOD1	11	107535879	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34706	107535879	27470637	12176	19888											
SLC35F2	54733	broad.mit.edu	37	chr11	107682519	107682519	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attactaaaaggttatcactGcctggttgaaagaaatatgg	9	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107682519G>A	ENST00000525071.1	-	6	876	c.288C>T	c.(286-288)ggC>ggT	p.G96G	SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000525815.1_Splice_Site_p.G96G|SLC35F2_ENST00000375682.4_Splice_Site_p.G49G|SLC35F2_ENST00000429869.1_Splice_Site_p.G96G			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	96					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GGTTATCACTGCCTGGTTGAA	0.368													False	0	False	11:107682519	0	A	107682519	G	A	107682519	5	1	88	1	0	0	0	0	0	0	1	0	14669	1333	46	2	860	2	SLC35F2	11	107682519	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146640	107682519	27323997	12177	19889											
CUL5	8065	broad.mit.edu	37	chr11	107923465	107923465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagtgcaatgaagctggtaCatgctgagagattgggagaa	14	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107923465C>T	ENST00000393094.2	+	5	1106	c.490C>T	c.(490-492)Cat>Tat	p.H164Y		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	164					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GAAGCTGGTACATGCTGAGAG	0.353													False	0	False	11:107923465	0	T	107923465	C	T	107923465	3	4	88	1	0	0	0	0	1	0	0	0	4084	478	17	2	508	2	CUL5	11	107923465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240946	107923465	27083051	12178	19890											
ACAT1	38	broad.mit.edu	37	chr11	108016987	108016987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgggaagtaaatgaagCctttagtctggttgtactag	12	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108016987C>T	ENST00000265838.4	+	11	1155	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	355					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GTAAATGAAGCCTTTAGTCTG	0.343													False	0	False	11:108016987	0	T	108016987	C	T	108016987	3	4	88	1	0	0	0	0	1	0	0	0	121	739	26	2	1106	2	ACAT1	11	108016987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93522	108016987	26989529	12179	19891											
ACAT1	38	broad.mit.edu	37	chr11	108018094	108018094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaggaggaggtgcttctGccatgctaattcagaagctg	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108018094G>A	ENST00000265838.4	+	12	1352	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	421					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AGGTGCTTCTGCCATGCTAAT	0.478													False	0	False	11:108018094	0	A	108018094	G	A	108018094	3	1	88	1	0	0	0	0	1	0	0	0	121	1319	46	2	1307	2	ACAT1	11	108018094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1107	108018094	26988422	12180	19892											
NPAT	4863	broad.mit.edu	37	chr11	108042973	108042973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttgacagcaaatacactgTttgaccttggtggtgtctgt	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108042973T>C	ENST00000278612.8	-	13	2843	c.2738A>G	c.(2737-2739)aAc>aGc	p.N913S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	913					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAATACACTGTTTGACCTTGG	0.403													False	0	True	11:108042973	0	C	108042973	T	C	108042973	3	2	88	1	0	0	0	0	1	0	0	0	10634	1725	60	4	1569	4	NPAT	11	108042973	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24879	108042973	26963543	12181	19893											
NPAT	4863	broad.mit.edu	37	chr11	108043568	108043568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagtattttgggactcagGgtgagaatctcccactgaag	11	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108043568G>A	ENST00000278612.8	-	13	2248	c.2143C>T	c.(2143-2145)Cct>Tct	p.P715S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	715					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGGACTCAGGGTGAGAATCT	0.438													False	0	True	11:108043568	0	A	108043568	G	A	108043568	3	1	88	1	0	0	0	0	1	0	0	0	10634	1232	43	2	2164	2	NPAT	11	108043568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	595	108043568	26962948	12182	19894											
NPAT	4863	broad.mit.edu	37	chr11	108044536	108044536	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcatttaatgggtcatcaTtctgataggatgtacaaaaa	8	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108044536T>C	ENST00000278612.8	-	13	1280	c.1175A>G	c.(1174-1176)aAt>aGt	p.N392S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	392					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGGTCATCATTCTGATAGGA	0.398													False	0	False	11:108044536	0	C	108044536	T	C	108044536	3	2	88	1	0	0	0	0	1	0	0	0	10634	1493	52	4	3132	4	NPAT	11	108044536	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	968	108044536	26961980	12183	19895											
ATM	472	broad.mit.edu	37	chr11	108198454	108198454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaacgtgcttagaaaatcCtgcggtcatcatgcagacct	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108198454C>A	ENST00000278616.4	+	48	7443	c.7058C>A	c.(7057-7059)cCt>cAt	p.P2353H	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.P2353H	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2353	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTAGAAAATCCTGCGGTCATC	0.388			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			False	0	False	11:108198454	0	A	108198454	C	A	108198454	3	1	88	1	0	0	0	0	1	0	0	0	1113	681	24	3	7244	3	ATM	11	108198454	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153918	108198454	26808062	12184	19896											
ATM	472	broad.mit.edu	37	chr11	108201008	108201008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcgtgcactgaaagaggatCgtaaacgcttcttatgtaaa	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108201008C>T	ENST00000278616.4	+	50	7760	c.7375C>T	c.(7375-7377)Cgt>Tgt	p.R2459C	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.R2459C	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2459	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAAAGAGGATCGTAAACGCTT	0.393			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			False	0	False	11:108201008	0	T	108201008	C	T	108201008	3	4	88	1	0	0	0	0	1	0	0	0	1113	884	31	1	7569	1	ATM	11	108201008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2554	108201008	26805508	12185	19897											
ATM	472	broad.mit.edu	37	chr11	108214019	108214019	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccccattggtgaatttcTtgttaacaatgaagatggtg	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108214019T>G	ENST00000278616.4	+	57	8724	c.8339T>G	c.(8338-8340)cTt>cGt	p.L2780R	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2780R	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2780	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGTGAATTTCTTGTTAACAAT	0.403			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			False	0	False	11:108214019	0	G	108214019	T	G	108214019	3	3	88	1	0	0	0	0	1	0	0	0	1113	1609	56	4	8561	4	ATM	11	108214019	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13011	108214019	26792497	12186	19898											
ATM	472	broad.mit.edu	37	chr11	108225552	108225552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctagatgctgtgagaaaaCcatggaagtgatgagaaact	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108225552C>T	ENST00000278616.4	+	61	9186	c.8801C>T	c.(8800-8802)aCc>aTc	p.T2934I	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.T2934I	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2934	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTGAGAAAACCATGGAAGTG	0.338			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			False	0	True	11:108225552	0	T	108225552	C	T	108225552	3	4	88	1	0	0	0	0	1	0	0	0	1113	507	18	2	9039	2	ATM	11	108225552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11533	108225552	26780964	12187	19899											
EXPH5	23086	broad.mit.edu	37	chr11	108382146	108382146	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatctgaaaaaatctctctaGctttagattcctcttcagga	5	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108382146G>T	ENST00000265843.4	-	6	4198	c.4088C>A	c.(4087-4089)gCt>gAt	p.A1363D	EXPH5_ENST00000443411.1_Missense_Mutation_p.A1175D|EXPH5_ENST00000428840.1_Missense_Mutation_p.A1287D|EXPH5_ENST00000525344.1_Missense_Mutation_p.A1356D	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1363					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AATCTCTCTAGCTTTAGATTC	0.413													False	0	False	11:108382146	0	T	108382146	G	T	108382146	3	4	88	1	0	0	0	0	1	0	0	0	5355	971	34	3	1885	3	EXPH5	11	108382146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156594	108382146	26624370	12188	19900											
EXPH5	23086	broad.mit.edu	37	chr11	108383192	108383192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacaataaattgtgtcaagTtcagaaactttggaattgct	8	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108383192T>C	ENST00000265843.4	-	6	3152	c.3042A>G	c.(3040-3042)gaA>gaG	p.E1014E	EXPH5_ENST00000443411.1_Silent_p.E826E|EXPH5_ENST00000428840.1_Silent_p.E938E|EXPH5_ENST00000525344.1_Silent_p.E1007E	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1014					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGTGTCAAGTTCAGAAACTT	0.383													False	0	False	11:108383192	0	C	108383192	T	C	108383192	2	2	88	1	0	0	0	0	0	0	0	1	5355	1722	60	4		4	EXPH5	11	108383192	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1046	108383192	26623324	12189	19901											
DDX10	1662	broad.mit.edu	37	chr11	108586668	108586668	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctattttagctcaagatcAagatttaaaagaaagagctc	6	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108586668A>C	ENST00000526794.1	+	11	1417	c.1385A>C	c.(1384-1386)cAa>cCa	p.Q462P	DDX10_ENST00000322536.3_Missense_Mutation_p.Q462P			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	462							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCTCAAGATCAAGATTTAAAA	0.289			T	NUP98	AML*								False	0	True	11:108586668	0	C	108586668	A	C	108586668	3	2	88	1	0	0	0	0	1	0	0	0	4367	130	5	4	1427	4	DDX10	11	108586668	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203476	108586668	26419848	12190	19902											
DDX10	1662	broad.mit.edu	37	chr11	108593877	108593877	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggaagaatttagagcctaCttcaatgagaaaatgtccat	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108593877C>A	ENST00000526794.1	+	13	1685	c.1653C>A	c.(1651-1653)taC>taA	p.Y551*	DDX10_ENST00000322536.3_Nonsense_Mutation_p.Y551*			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	551							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTAGAGCCTACTTCAATGAGA	0.438			T	NUP98	AML*								False	0	False	11:108593877	0	A	108593877	C	A	108593877	4	1	88	1	0	0	0	0	0	1	0	0	4367	576	20	3	1703	3	DDX10	11	108593877	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7209	108593877	26412639	12191	19903											
DDX10	1662	broad.mit.edu	37	chr11	108709201	108709201	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttctaaatccagcatcaAgaaaaaaatgaccaaagttg	5	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108709201A>G	ENST00000526794.1	+	14	2026	c.1994A>G	c.(1993-1995)aAg>aGg	p.K665R	DDX10_ENST00000322536.3_Missense_Mutation_p.K665R			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	665							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TCCAGCATCAAGAAAAAAATG	0.323			T	NUP98	AML*								False	0	False	11:108709201	0	G	108709201	A	G	108709201	3	3	88	1	0	0	0	0	1	0	0	0	4367	72	3	4	2048	4	DDX10	11	108709201	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115324	108709201	26297315	12192	19904											
C11orf87	399947	broad.mit.edu	37	chr11	109294503	109294503	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcggcacctgcatcacGcaggtgggacagcagctctt	14	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:109294503G>T	ENST00000327419.6	+	2	547	c.144G>T	c.(142-144)acG>acT	p.T48T	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	48						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCTGCATCACGCAGGTGGGAC	0.637													False	0	False	11:109294503	0	T	109294503	G	T	109294503	2	4	88	1	0	0	0	0	0	0	0	1	1677	1074	38	3		3	C11orf87	11	109294503	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	585302	109294503	25712013	12193	19905											
ZC3H12C	85463	broad.mit.edu	37	chr11	110007429	110007429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaatacagaaaaaacagCaaagtggagtcaagtacacg	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110007429C>T	ENST00000278590.3	+	2	114	c.63C>T	c.(61-63)agC>agT	p.S21S	ZC3H12C_ENST00000453089.2_5'UTR|ZC3H12C_ENST00000528673.1_Silent_p.S22S	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	21							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GAAAAAACAGCAAAGTGGAGT	0.408													False	0	True	11:110007429	0	T	110007429	C	T	110007429	2	4	88	1	0	0	0	0	0	0	0	1	17646	709	25	2		2	ZC3H12C	11	110007429	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	712926	110007429	24999087	12194	19906											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035963	110035963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactccgctgtgggcgcccGgtccagctgtcctggcgact	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110035963G>A	ENST00000453089.2	+	5	2941	c.2060G>A	c.(2059-2061)cGg>cAg	p.R687Q	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R718Q|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R719Q			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	718							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GTGGGCGCCCGGTCCAGCTGT	0.592													False	0	True	11:110035963	0	A	110035963	G	A	110035963	3	1	88	1	0	0	0	0	1	0	0	0	17646	1116	39	1	2175	1	ZC3H12C	11	110035963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28534	110035963	24970553	12195	19907											
RDX	5962	broad.mit.edu	37	chr11	110124728	110124728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagccttcatctgttgtactTcaatagtatcaggcttcctt	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110124728T>C	ENST00000343115.4	-	9	1221	c.902A>G	c.(901-903)gAa>gGa	p.E301G	RDX_ENST00000544551.1_Missense_Mutation_p.E165G|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.E301G|RDX_ENST00000528498.1_Missense_Mutation_p.E301G|RDX_ENST00000528900.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	301					actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTGTTGTACTTCAATAGTATC	0.418													False	0	False	11:110124728	0	C	110124728	T	C	110124728	3	2	88	1	0	0	0	0	1	0	0	0	13277	1783	62	4	873	4	RDX	11	110124728	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88765	110124728	24881788	12196	19908											
RDX	5962	broad.mit.edu	37	chr11	110128544	110128544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcatcaacacctagccacaAttcagttccttttttatttt	3	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110128544A>C	ENST00000343115.4	-	7	965	c.646T>G	c.(646-648)Ttg>Gtg	p.L216V	RDX_ENST00000544551.1_Missense_Mutation_p.L80V|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.L216V|RDX_ENST00000528498.1_Missense_Mutation_p.L216V|RDX_ENST00000528900.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	216	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CCTAGCCACAATTCAGTTCCT	0.348													False	0	False	11:110128544	0	C	110128544	A	C	110128544	3	2	88	1	0	0	0	0	1	0	0	0	13277	98	4	4	1137	4	RDX	11	110128544	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3816	110128544	24877972	12197	19909											
FDX1	2230	broad.mit.edu	37	chr11	110327671	110327671	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggaaccctggcttgttcaAcctgtcacctcatctttgaa	8	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110327671A>G	ENST00000260270.2	+	3	578	c.340A>G	c.(340-342)Acc>Gcc	p.T114A		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	114	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GGCTTGTTCAACCTGTCACCT	0.438													False	0	False	11:110327671	0	G	110327671	A	G	110327671	3	3	88	1	0	0	0	0	1	0	0	0	5844	43	2	4	350	4	FDX1	11	110327671	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	199127	110327671	24678845	12198	19910											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451031	110451031	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtttgagataatcctcctctCcatgcaagagaccagcttca	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110451031C>A	ENST00000260283.4	-	16	2923	c.2639G>T	c.(2638-2640)gGa>gTa	p.G880V	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G854V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G423V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G854V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G844V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G857V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G844V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	880					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ATCCTCCTCTCCATGCAAGAG	0.453													False	0	False	11:110451031	0	A	110451031	C	A	110451031	3	1	88	1	0	0	0	0	1	0	0	0	872	855	30	3	940	3	ARHGAP20	11	110451031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123360	110451031	24555485	12199	19911											
ARHGAP20	57569	broad.mit.edu	37	chr11	110454328	110454328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaggaggccaaagaaTacttggagcgacacacacag	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110454328T>C	ENST00000260283.4	-	14	1833	c.1549A>G	c.(1549-1551)Att>Gtt	p.I517V	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I491V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I60V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I491V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I481V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I494V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I481V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	517	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GGCCAAAGAATACTTGGAGCG	0.418													False	0	False	11:110454328	0	C	110454328	T	C	110454328	3	2	88	1	0	0	0	0	1	0	0	0	872	1406	49	4	2038	4	ARHGAP20	11	110454328	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3297	110454328	24552188	12200	19912											
ARHGAP20	57569	broad.mit.edu	37	chr11	110501445	110501445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcccggccatcaatcaGcagagtcctattggagcaca	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110501445G>A	ENST00000260283.4	-	4	543	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	ARHGAP20_ENST00000533353.1_Silent_p.L61L|ARHGAP20_ENST00000357139.3_Silent_p.L61L|ARHGAP20_ENST00000528829.1_Silent_p.L51L|ARHGAP20_ENST00000524756.1_Silent_p.L64L|ARHGAP20_ENST00000527598.1_Silent_p.L51L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	87	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCATCAATCAGCAGAGTCCTA	0.463													False	0	True	11:110501445	0	A	110501445	G	A	110501445	2	1	88	1	0	0	0	0	0	0	0	1	872	962	34	2		2	ARHGAP20	11	110501445	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47117	110501445	24505071	12201	19913											
C11orf88	399949	broad.mit.edu	37	chr11	111385713	111385713	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtctgccggtggcgcgGcccaggaggagcagagggtc	19	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111385713G>T	ENST00000529167.1	+	1	204	c.204G>T	c.(202-204)cgG>cgT	p.R68R	C11orf88_ENST00000332814.6_Silent_p.R68R|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Silent_p.R68R			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	68										endometrium(1)|large_intestine(3)|lung(2)	6						CGGTGGCGCGGCCCAGGAGGA	0.602											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:111385713	0	T	111385713	G	T	111385713	2	4	88	1	0	0	0	0	0	0	0	1	1678	1190	42	3		3	C11orf88	11	111385713	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	884268	111385713	23620803	12202	19914											
SIK2	23235	broad.mit.edu	37	chr11	111574013	111574013	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggagcataaatggatgCtcatagaagttcctgtccag	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111574013C>A	ENST00000304987.3	+	7	987	c.814C>A	c.(814-816)Ctc>Atc	p.L272I		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	272					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAAATGGATGCTCATAGAAGT	0.463													False	0	False	11:111574013	0	A	111574013	C	A	111574013	3	1	88	1	0	0	0	0	1	0	0	0	14399	797	28	3	840	3	SIK2	11	111574013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	188300	111574013	23432503	12203	19915											
PPP2R1B	5519	broad.mit.edu	37	chr11	111614190	111614190	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaatagtattttgggcccaCtctgtaccaaacttctgaac	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111614190C>A	ENST00000527614.1	-	12	1529	c.1464G>T	c.(1462-1464)gaG>gaT	p.E488D	PPP2R1B_ENST00000427203.2_Missense_Mutation_p.E327D|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.E424D|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E488D|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.E361D|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.E443D	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	488							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TTTGGGCCCACTCTGTACCAA	0.388													False	0	False	11:111614190	0	A	111614190	C	A	111614190	3	1	88	1	0	0	0	0	1	0	0	0	12457	564	20	3	580	3	PPP2R1B	11	111614190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40177	111614190	23392326	12204	19916											
PPP2R1B	5519	broad.mit.edu	37	chr11	111622994	111622994	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagactgagagagctgacgGattccaatcacttcatttac	9	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111622994G>A	ENST00000527614.1	-	10	1292	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	PPP2R1B_ENST00000427203.2_Silent_p.I248I|PPP2R1B_ENST00000426998.2_Silent_p.I345I|PPP2R1B_ENST00000311129.5_Silent_p.I409I|PPP2R1B_ENST00000393055.2_Silent_p.I282I|PPP2R1B_ENST00000341980.6_Silent_p.I364I	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	409							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AGAGCTGACGGATTCCAATCA	0.473													False	0	False	11:111622994	0	A	111622994	G	A	111622994	2	1	88	1	0	0	0	0	0	0	0	1	12457	1164	41	2		2	PPP2R1B	11	111622994	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8804	111622994	23383522	12205	19917											
ALG9	79796	broad.mit.edu	37	chr11	111711410	111711410	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagagccacagcgccacagaGacatataagtggatacacag	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111711410G>A	ENST00000398006.2	-	10	1536	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000531154.1_Missense_Mutation_p.L210F|ALG9_ENST00000524880.1_3'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	381					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GCGCCACAGAGACATATAAGT	0.393													False	0	False	11:111711410	0	A	111711410	G	A	111711410	3	1	88	1	0	0	0	0	1	0	0	0	524	942	33	2	739	2	ALG9	11	111711410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88416	111711410	23295106	12206	19918											
ALG9	79796	broad.mit.edu	37	chr11	111724395	111724395	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatagtatgagggccatcaGcgaccaatgaaagaaactct	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111724395G>A	ENST00000398006.2	-	7	1161	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000531154.1_Silent_p.L85L|ALG9_ENST00000524880.1_3'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	256					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AGGGCCATCAGCGACCAATGA	0.378													False	0	False	11:111724395	0	A	111724395	G	A	111724395	2	1	88	1	0	0	0	0	0	0	0	1	524	962	34	2		2	ALG9	11	111724395	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12985	111724395	23282121	12207	19919											
C11orf1	64776	broad.mit.edu	37	chr11	111753104	111753104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcccagagacagaacctcGcctgtttcctcacaaaccca	5	16	1	2	rs139660891		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111753104G>A	ENST00000260276.3	+	2	395	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	C11orf1_ENST00000530214.1_Missense_Mutation_p.A20T|C11orf1_ENST00000528125.1_5'UTR|C11orf1_ENST00000529270.1_Missense_Mutation_p.A60T	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	20						nucleus				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ACAGAACCTCGCCTGTTTCCT	0.428													False	0	False	11:111753104	0	A	111753104	G	A	111753104	3	1	88	1	0	0	0	0	1	0	0	0	1637	1087	38	1	64	1	C11orf1	11	111753104	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28709	111753104	23253412	12208	19920											
DIXDC1	85458	broad.mit.edu	37	chr11	111866132	111866132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttttgcccacagaccagCgacctgcagcttgttcgaga	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111866132C>T	ENST00000440460.2	+	17	1827	c.1530C>T	c.(1528-1530)agC>agT	p.S510S	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Silent_p.S299S	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	511					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CACAGACCAGCGACCTGCAGC	0.527													False	0	False	11:111866132	0	T	111866132	C	T	111866132	2	4	88	1	0	0	0	0	0	0	0	1	4571	767	27	1		1	DIXDC1	11	111866132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113028	111866132	23140384	12209	19921											
DIXDC1	85458	broad.mit.edu	37	chr11	111866170	111866170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgctctccgcagcctgcGcaacagcttcagtggccacg	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111866170G>A	ENST00000440460.2	+	17	1865	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.R312H	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	524					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CGCAGCCTGCGCAACAGCTTC	0.572													False	0	False	11:111866170	0	A	111866170	G	A	111866170	3	1	88	1	0	0	0	0	1	0	0	0	4571	1087	38	1	1659	1	DIXDC1	11	111866170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	111866170	23140346	12210	19922											
DLAT	1737	broad.mit.edu	37	chr11	111899614	111899614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacccctgctgccactgcttCgccacctacaccttctgctc	5	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111899614C>T	ENST00000280346.6	+	4	1264	c.605C>T	c.(604-606)tCg>tTg	p.S202L	DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Missense_Mutation_p.S202L	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	202					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GCCACTGCTTCGCCACCTACA	0.532													False	0	False	11:111899614	0	T	111899614	C	T	111899614	3	4	88	1	0	0	0	0	1	0	0	0	4579	893	31	1	619	1	DLAT	11	111899614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33444	111899614	23106902	12211	19923											
DLAT	1737	broad.mit.edu	37	chr11	111910001	111910001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaactccccagcctttaGctcctacaccttcagcaccc	3	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111910001G>A	ENST00000280346.6	+	7	1668	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	DLAT_ENST00000537636.1_Missense_Mutation_p.A108T|DLAT_ENST00000393051.1_Missense_Mutation_p.A232T	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	337					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	CCAGCCTTTAGCTCCTACACC	0.453													False	0	False	11:111910001	0	A	111910001	G	A	111910001	3	1	88	1	0	0	0	0	1	0	0	0	4579	971	34	2	1035	2	DLAT	11	111910001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10387	111910001	23096515	12212	19924											
DLAT	1737	broad.mit.edu	37	chr11	111916599	111916599	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttcaggttattgcacagCgattaatgcaatcaaagcaa	9	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111916599C>T	ENST00000280346.6	+	10	1962	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	DLAT_ENST00000537636.1_Nonsense_Mutation_p.R206*|DLAT_ENST00000393051.1_Nonsense_Mutation_p.R330*	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	435	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	TATTGCACAGCGATTAATGCA	0.333													False	0	False	11:111916599	0	T	111916599	C	T	111916599	4	4	88	1	0	0	0	0	0	1	0	0	4579	760	27	1	1341	1	DLAT	11	111916599	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6598	111916599	23089917	12213	19925											
DLAT	1737	broad.mit.edu	37	chr11	111930659	111930659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtcagtgttgcggtcaGtactcctgcaggactcatca	11	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111930659G>A	ENST00000280346.6	+	12	2206	c.1547G>A	c.(1546-1548)aGt>aAt	p.S516N	DLAT_ENST00000537636.1_Missense_Mutation_p.S287N|DLAT_ENST00000393051.1_Missense_Mutation_p.S411N	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	516	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GTTGCGGTCAGTACTCCTGCA	0.348													False	0	False	11:111930659	0	A	111930659	G	A	111930659	3	1	88	1	0	0	0	0	1	0	0	0	4579	1029	36	2	1593	2	DLAT	11	111930659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14060	111930659	23075857	12214	19926											
PIH1D2	120379	broad.mit.edu	37	chr11	111941873	111941873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggtaatatggtaagagtGtgagagggtgaactggaatt	15	1	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111941873G>A	ENST00000530641.1	-	4	761	c.436C>T	c.(436-438)Cac>Tac	p.H146Y	PIH1D2_ENST00000431456.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000280350.4_Missense_Mutation_p.H146Y|PIH1D2_ENST00000528775.1_Missense_Mutation_p.H146Y|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H146Y			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	146										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TGGTAAGAGTGTGAGAGGGTG	0.343													False	0	False	11:111941873	0	A	111941873	G	A	111941873	3	1	88	1	0	0	0	0	1	0	0	0	11976	1377	48	2	581	2	PIH1D2	11	111941873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11214	111941873	23064643	12215	19927											
BCO2	83875	broad.mit.edu	37	chr11	112084459	112084459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacaggtccataattcaGcagccaaatctttccctcga	5	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:112084459G>A	ENST00000357685.5	+	9	1342	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	BCO2_ENST00000526088.1_Missense_Mutation_p.A369T|BCO2_ENST00000531169.1_Missense_Mutation_p.A369T|BCO2_ENST00000532593.1_Missense_Mutation_p.A298T|BCO2_ENST00000438022.1_Missense_Mutation_p.A369T|BCO2_ENST00000361053.4_Missense_Mutation_p.A330T|BCO2_ENST00000393032.2_Missense_Mutation_p.A369T			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	403					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CCATAATTCAGCAGCCAAATC	0.408													False	0	False	11:112084459	0	A	112084459	G	A	112084459	3	1	88	1	0	0	0	0	1	0	0	0	1389	971	34	2	1241	2	BCO2	11	112084459	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142586	112084459	22922057	12216	19928											
NCAM1	4684	broad.mit.edu	37	chr11	113075180	113075180	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagtgtgtggttacaggCgaggatggcagtgagtcaga	16	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113075180C>T	ENST00000316851.7	+	2	270	c.270C>T	c.(268-270)ggC>ggT	p.G90G	NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G99G	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	100	Ig-like C2-type 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGGTTACAGGCGAGGATGGCA	0.527													False	0	False	11:113075180	0	T	113075180	C	T	113075180	2	4	88	1	0	0	0	0	0	0	0	1	10270	755	27	1		1	NCAM1	11	113075180	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	990721	113075180	21931336	12217	19929											
NCAM1	4684	broad.mit.edu	37	chr11	113102908	113102908	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagatgccccaaagctacaGggccctgtggctgtgtacac	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113102908G>T	ENST00000316851.7	+	10	1227	c.1227G>T	c.(1225-1227)caG>caT	p.Q409H	NCAM1_ENST00000533760.1_Missense_Mutation_p.Q291H|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.Q418H	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	419	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAAAGCTACAGGGCCCTGTGG	0.537													False	0	True	11:113102908	0	T	113102908	G	T	113102908	3	4	88	1	0	0	0	0	1	0	0	0	10270	991	35	3	1300	3	NCAM1	11	113102908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27728	113102908	21903608	12218	19930											
TTC12	54970	broad.mit.edu	37	chr11	113235728	113235728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgacacacagaagacggCcgtgcaggtgaacgcaggca	14	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113235728C>T	ENST00000529221.1	+	21	2093	c.1988C>T	c.(1987-1989)gCc>gTc	p.A663V	TTC12_ENST00000483239.2_Missense_Mutation_p.A669V|TTC12_ENST00000314756.3_Missense_Mutation_p.A663V|TTC12_ENST00000393020.1_Intron	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	663							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CAGAAGACGGCCGTGCAGGTG	0.562													False	0	False	11:113235728	0	T	113235728	C	T	113235728	3	4	88	1	0	0	0	0	1	0	0	0	16763	739	26	2	2066	2	TTC12	11	113235728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132820	113235728	21770788	12219	19931											
ANKK1	255239	broad.mit.edu	37	chr11	113258669	113258669	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcttcacccgcgacgacttCgagggcgactggcgcctagt	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113258669C>T	ENST00000303941.3	+	1	157	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	21							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCGACGACTTCGAGGGCGACT	0.726													False	0	False	11:113258669	0	T	113258669	C	T	113258669	2	4	88	1	0	0	0	0	0	0	0	1	631	883	31	1		1	ANKK1	11	113258669	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22941	113258669	21747847	12220	19932											
ANKK1	255239	broad.mit.edu	37	chr11	113266921	113266921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctgctgggaccaggaccCcaagaagaggccatgctttc	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113266921C>T	ENST00000303941.3	+	5	909	c.815C>T	c.(814-816)cCc>cTc	p.P272L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	272	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GACCAGGACCCCAAGAAGAGG	0.647													False	0	True	11:113266921	0	T	113266921	C	T	113266921	3	4	88	1	0	0	0	0	1	0	0	0	631	623	22	2	833	2	ANKK1	11	113266921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8252	113266921	21739595	12221	19933											
ANKK1	255239	broad.mit.edu	37	chr11	113267969	113267969	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaccatcgagacagacataCtgctgtcactgctgcagagt	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113267969C>A	ENST00000303941.3	+	6	956	c.862C>A	c.(862-864)Ctg>Atg	p.L288M		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	288	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.L288L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GACAGACATACTGCTGTCACT	0.587													False	0	False	11:113267969	0	A	113267969	C	A	113267969	3	1	88	1	0	0	0	0	1	0	0	0	631	564	20	3	884	3	ANKK1	11	113267969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1048	113267969	21738547	12222	19934											
ANKK1	255239	broad.mit.edu	37	chr11	113269997	113269997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccccactgcactttgcaGcccagaatggggatgacggc	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113269997G>A	ENST00000303941.3	+	8	1400	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	436							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCACTTTGCAGCCCAGAATGG	0.647													False	0	True	11:113269997	0	A	113269997	G	A	113269997	3	1	88	1	0	0	0	0	1	0	0	0	631	971	34	2	1336	2	ANKK1	11	113269997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2028	113269997	21736519	12223	19935											
DRD2	1813	broad.mit.edu	37	chr11	113281506	113281506	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaatgttgaaggtggtgtaGatgatggggttcacggcgct	16	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113281506G>T	ENST00000362072.3	-	8	1619	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	DRD2_ENST00000355319.2_Silent_p.I427I|DRD2_ENST00000346454.3_Silent_p.I396I|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000542968.1_Silent_p.I425I|DRD2_ENST00000544518.1_Silent_p.I424I|DRD2_ENST00000538967.1_Silent_p.I427I	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	425					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	AGGTGGTGTAGATGATGGGGT	0.577													False	0	False	11:113281506	0	T	113281506	G	T	113281506	2	4	88	1	0	0	0	0	0	0	0	1	4787	932	33	3		3	DRD2	11	113281506	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11509	113281506	21725010	12224	19936											
TMPRSS5	80975	broad.mit.edu	37	chr11	113560616	113560616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtgtccccatctgggcaCactagggggcccccgctatc	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113560616C>T	ENST00000299882.5	-	12	1378	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	TMPRSS5_ENST00000544476.1_Silent_p.V297V|TMPRSS5_ENST00000540540.1_Silent_p.V151V|TMPRSS5_ENST00000544634.1_Silent_p.V341V|TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000545579.1_Silent_p.V401V|TMPRSS5_ENST00000538955.1_Silent_p.V366V	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	410	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		CATCTGGGCACACTAGGGGGC	0.607													False	0	False	11:113560616	0	T	113560616	C	T	113560616	2	4	88	1	0	0	0	0	0	0	0	1	16332	465	17	2		2	TMPRSS5	11	113560616	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279110	113560616	21445900	12225	19937											
ZW10	9183	broad.mit.edu	37	chr11	113610060	113610060	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcaatgtacatacagttgTtgtgatgaatagcagccaac	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113610060T>G	ENST00000200135.3	-	12	1772	c.1628A>C	c.(1627-1629)aAc>aCc	p.N543T		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	543					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CATACAGTTGTTGTGATGAAT	0.488													False	0	False	11:113610060	0	G	113610060	T	G	113610060	3	3	88	1	0	0	0	0	1	0	0	0	18329	1725	60	4	731	4	ZW10	11	113610060	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49444	113610060	21396456	12226	19938											
USP28	57646	broad.mit.edu	37	chr11	113683039	113683039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcattaatgtacatcagaCagtaagcactaacatttctc	5	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113683039C>T	ENST00000003302.4	-	16	1999	c.1931G>A	c.(1930-1932)tGt>tAt	p.C644Y	USP28_ENST00000260188.5_Missense_Mutation_p.C644Y|USP28_ENST00000544967.1_Missense_Mutation_p.C352Y|USP28_ENST00000545540.1_Missense_Mutation_p.C519Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	644					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GTACATCAGACAGTAAGCACT	0.413													False	0	False	11:113683039	0	T	113683039	C	T	113683039	3	4	88	1	0	0	0	0	1	0	0	0	17142	478	17	2	1342	2	USP28	11	113683039	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72979	113683039	21323477	12227	19939											
USP28	57646	broad.mit.edu	37	chr11	113683095	113683095	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctctttcaacttcttcccaGgaagattcagtaacagagat	6	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113683095G>T	ENST00000003302.4	-	16	1943	c.1875C>A	c.(1873-1875)tcC>tcA	p.S625S	USP28_ENST00000260188.5_Silent_p.S625S|USP28_ENST00000544967.1_Silent_p.S333S|USP28_ENST00000545540.1_Silent_p.S500S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	625					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTTCTTCCCAGGAAGATTCAG	0.418													False	0	False	11:113683095	0	T	113683095	G	T	113683095	2	4	88	1	0	0	0	0	0	0	0	1	17142	987	35	3		3	USP28	11	113683095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56	113683095	21323421	12228	19940											
USP28	57646	broad.mit.edu	37	chr11	113688414	113688414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcagaaaccgagcagtGcactgaagaaagtggtaatg	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113688414G>A	ENST00000003302.4	-	13	1497	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	USP28_ENST00000260188.5_Missense_Mutation_p.H477Y|USP28_ENST00000544967.1_Missense_Mutation_p.H185Y|USP28_ENST00000537706.1_Missense_Mutation_p.H477Y|USP28_ENST00000545540.1_Missense_Mutation_p.H352Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	477					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACCGAGCAGTGCACTGAAGAA	0.358													False	0	False	11:113688414	0	A	113688414	G	A	113688414	3	1	88	1	0	0	0	0	1	0	0	0	17142	1319	46	2	1856	2	USP28	11	113688414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5319	113688414	21318102	12229	19941											
USP28	57646	broad.mit.edu	37	chr11	113702669	113702669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacagctagctggaatgcgTcctctagccaatccaggagc	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113702669T>C	ENST00000003302.4	-	8	874	c.806A>G	c.(805-807)gAc>gGc	p.D269G	USP28_ENST00000260188.5_Missense_Mutation_p.D269G|USP28_ENST00000542033.1_Intron|USP28_ENST00000537706.1_Missense_Mutation_p.D269G|USP28_ENST00000545540.1_Missense_Mutation_p.D144G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	269					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTGGAATGCGTCCTCTAGCCA	0.408													False	0	False	11:113702669	0	C	113702669	T	C	113702669	3	2	88	1	0	0	0	0	1	0	0	0	17142	1667	58	4	2499	4	USP28	11	113702669	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14255	113702669	21303847	12230	19942											
HTR3B	9177	broad.mit.edu	37	chr11	113780108	113780108	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcataaagaagtgagAcctgtttacaactggaccaa	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113780108A>G	ENST00000260191.2	+	2	401	c.144A>G	c.(142-144)agA>agG	p.R48R	HTR3B_ENST00000537778.1_Silent_p.R37R	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	48					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		AAGAAGTGAGACCTGTTTACA	0.448													False	0	False	11:113780108	0	G	113780108	A	G	113780108	2	3	88	1	0	0	0	0	0	0	0	1	7495	272	10	4		4	HTR3B	11	113780108	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	77439	113780108	21226408	12231	19943											
HTR3B	9177	broad.mit.edu	37	chr11	113815474	113815474	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcccaacgtgctgtggtaAcaggtgtgtgagaagccttg	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113815474A>C	ENST00000260191.2	+	8	1344	c.1087A>C	c.(1087-1089)Aca>Cca	p.T363P	HTR3B_ENST00000537778.1_Missense_Mutation_p.T352P	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	363					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TGCTGTGGTAACAGGTGTGTG	0.537													False	0	False	11:113815474	0	C	113815474	A	C	113815474	3	2	88	1	0	0	0	0	1	0	0	0	7495	43	2	4	1117	4	HTR3B	11	113815474	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35366	113815474	21191042	12232	19944											
HTR3A	3359	broad.mit.edu	37	chr11	113853894	113853894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgtatattcggcatcaaGgcgaagttcagaactacaag	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113853894G>A	ENST00000504030.2	+	5	872	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	HTR3A_ENST00000506841.2_Missense_Mutation_p.G143S|HTR3A_ENST00000375498.2_Missense_Mutation_p.G149S|HTR3A_ENST00000299961.5_Missense_Mutation_p.G128S|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000355556.2_Missense_Mutation_p.G149S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	143					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCGGCATCAAGGCGAAGTTCA	0.537													False	0	False	11:113853894	0	A	113853894	G	A	113853894	3	1	88	1	0	0	0	0	1	0	0	0	7494	1000	35	2	489	2	HTR3A	11	113853894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38420	113853894	21152622	12233	19945											
HTR3A	3359	broad.mit.edu	37	chr11	113857382	113857382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagattacactcctcctggGctactcggtcttcctgatca	7	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113857382G>A	ENST00000504030.2	+	7	1293	c.848G>A	c.(847-849)gGc>gAc	p.G283D	HTR3A_ENST00000506841.2_Missense_Mutation_p.G283D|HTR3A_ENST00000375498.2_Missense_Mutation_p.G289D|HTR3A_ENST00000299961.5_Missense_Mutation_p.G268D|HTR3A_ENST00000535865.1_Missense_Mutation_p.G27D|HTR3A_ENST00000355556.2_Missense_Mutation_p.G289D			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	283					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCCTCCTGGGCTACTCGGTC	0.577													False	0	True	11:113857382	0	A	113857382	G	A	113857382	3	1	88	1	0	0	0	0	1	0	0	0	7494	1203	42	2	918	2	HTR3A	11	113857382	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3488	113857382	21149134	12234	19946											
HTR3A	3359	broad.mit.edu	37	chr11	113860390	113860390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggctgcgcgtgggctccGtgctggacaagctgctattc	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113860390G>A	ENST00000504030.2	+	9	1787	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	HTR3A_ENST00000506841.2_Missense_Mutation_p.V480M|HTR3A_ENST00000375498.2_Missense_Mutation_p.V454M|HTR3A_ENST00000299961.5_Missense_Mutation_p.V433M|HTR3A_ENST00000535865.1_Missense_Mutation_p.V192M|HTR3A_ENST00000355556.2_Missense_Mutation_p.V486M			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	448	HA-stretch.				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CGTGGGCTCCGTGCTGGACAA	0.602													False	0	False	11:113860390	0	A	113860390	G	A	113860390	3	1	88	1	0	0	0	0	1	0	0	0	7494	1145	40	1	1512	1	HTR3A	11	113860390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3008	113860390	21146126	12235	19947											
ZBTB16	7704	broad.mit.edu	37	chr11	113934573	113934573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcccatggtggaccagaGcccttcagtctccacttcat	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113934573G>A	ENST00000335953.4	+	2	931	c.551G>A	c.(550-552)aGc>aAc	p.S184N	ZBTB16_ENST00000392996.2_Missense_Mutation_p.S184N	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	184					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GTGGACCAGAGCCCTTCAGTC	0.552													False	0	True	11:113934573	0	A	113934573	G	A	113934573	3	1	88	1	0	0	0	0	1	0	0	0	17609	971	34	2	553	2	ZBTB16	11	113934573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74183	113934573	21071943	12236	19948											
RBM7	10179	broad.mit.edu	37	chr11	114278261	114278261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatcagttcaatcacacaGtcatagtttcaatcagtctt	4	11	7	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114278261G>A	ENST00000540163.1	+	5	1175	c.533G>A	c.(532-534)aGt>aAt	p.S178N	RBM7_ENST00000545678.1_Missense_Mutation_p.S58N|RBM7_ENST00000544582.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.S179N|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000541475.1_3'UTR			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	178					meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		CAATCACACAGTCATAGTTTC	0.423													False	0	True	11:114278261	0	A	114278261	G	A	114278261	3	1	88	1	0	0	0	0	1	0	0	0	13224	1029	36	2	551	2	RBM7	11	114278261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	343688	114278261	20728255	12237	19949											
RBM7	10179	broad.mit.edu	37	chr11	114278379	114278379	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacattatagccgggaacaGcgttacactgatcatgggtc	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114278379G>T	ENST00000540163.1	+	5	1293	c.651G>T	c.(649-651)caG>caT	p.Q217H	RBM7_ENST00000545678.1_Missense_Mutation_p.Q97H|RBM7_ENST00000544582.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.Q218H|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000541475.1_3'UTR			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	217					meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GCCGGGAACAGCGTTACACTG	0.443													False	0	False	11:114278379	0	T	114278379	G	T	114278379	3	4	88	1	0	0	0	0	1	0	0	0	13224	962	34	3	669	3	RBM7	11	114278379	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	114278379	20728137	12238	19950											
REXO2	25996	broad.mit.edu	37	chr11	114310303	114310303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggggtgtaggtgggagtcAcggacggttcggggcccgag	22	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114310303A>G	ENST00000265881.5	+	1	196	c.53A>G	c.(52-54)cAc>cGc	p.H18R	REXO2_ENST00000544196.1_Missense_Mutation_p.H18R|REXO2_ENST00000539754.1_Missense_Mutation_p.H18R|REXO2_ENST00000539275.1_Missense_Mutation_p.H18R|RP11-212D19.4_ENST00000544347.1_Intron	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	18					nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		GGTGGGAGTCACGGACGGTTC	0.711											OREG0021351	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:114310303	0	G	114310303	A	G	114310303	3	3	88	1	0	0	0	0	1	0	0	0	13321	159	6	4	55	4	REXO2	11	114310303	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31924	114310303	20696213	12239	19951											
CADM1	23705	broad.mit.edu	37	chr11	115049448	115049448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacgacgccaccgatcaCggcatgatccactgccctga	9	18	1	2	rs145171991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115049448C>T	ENST00000452722.3	-	9	1146	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	CADM1_ENST00000537058.1_Missense_Mutation_p.V387M|CADM1_ENST00000542447.2_Missense_Mutation_p.V348M|CADM1_ENST00000331581.6_Missense_Mutation_p.V405M|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Missense_Mutation_p.V377M	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1						adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCACCGATCACGGCATGATCC	0.512													False	0	False	11:115049448	0	T	115049448	C	T	115049448	3	4	88	1	0	0	0	0	1	0	0	0	2586	536	19	1	210	1	CADM1	11	115049448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	739145	115049448	19957068	12240	19952											
CADM1	23705	broad.mit.edu	37	chr11	115088668	115088668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtccccttcccgggttaaGccttgtagaggataagtcat	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115088668G>A	ENST00000452722.3	-	6	785	c.765C>T	c.(763-765)ggC>ggT	p.G255G	CADM1_ENST00000537058.1_Silent_p.G255G|CADM1_ENST00000542447.2_Silent_p.G255G|CADM1_ENST00000331581.6_Silent_p.G255G|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.G255G	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1		Ig-like C2-type 2.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCCGGGTTAAGCCTTGTAGAG	0.453													False	0	False	11:115088668	0	A	115088668	G	A	115088668	2	1	88	1	0	0	0	0	0	0	0	1	2586	958	34	2		2	CADM1	11	115088668	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39220	115088668	19917848	12241	19953											
CADM1	23705	broad.mit.edu	37	chr11	115099861	115099861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagataccgctgggtctgCaggtttccagtgaccgcagg	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115099861C>T	ENST00000452722.3	-	5	713	c.693G>A	c.(691-693)ctG>ctA	p.L231L	CADM1_ENST00000537058.1_Silent_p.L231L|CADM1_ENST00000542447.2_Silent_p.L231L|CADM1_ENST00000331581.6_Silent_p.L231L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.L231L	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1		Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCTGGGTCTGCAGGTTTCCAG	0.512													False	0	False	11:115099861	0	T	115099861	C	T	115099861	2	4	88	1	0	0	0	0	0	0	0	1	2586	697	25	2		2	CADM1	11	115099861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11193	115099861	19906655	12242	19954											
BUD13	84811	broad.mit.edu	37	chr11	116627904	116627904	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atccaggccagatattaaatCtgttgggaggaggtgctgga	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116627904C>A	ENST00000260210.4	-	9	1747	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	BUD13_ENST00000375445.3_Missense_Mutation_p.R441I	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	575										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GATATTAAATCTGTTGGGAGG	0.443													False	0	False	11:116627904	0	A	116627904	C	A	116627904	3	1	88	1	0	0	0	0	1	0	0	0	1580	913	32	3	143	3	BUD13	11	116627904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1528043	116627904	18378612	12243	19955											
APOA5	0	broad.mit.edu	37	chr11	116661334	116661334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagctcctgcacgtggCgcccgatgccgctcaccagg	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116661334C>T	ENST00000542499.1	-	4	683	c.611G>A	c.(610-612)cGc>cAc	p.R204H	APOA5_ENST00000227665.4_Missense_Mutation_p.R204H	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	204					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CTGCACGTGGCGCCCGATGCC	0.701													False	0	False	11:116661334	0	T	116661334	C	T	116661334	3	4	88	1	0	0	0	0	1	0	0	0	786	768	27	1	493	1	APOA5	11	116661334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33430	116661334	18345182	12244	19956											
APOA5	0	broad.mit.edu	37	chr11	116661734	116661734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagaggcctcagcttttccaGgaacttgttcatattgttga	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116661734G>T	ENST00000542499.1	-	4	283	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	APOA5_ENST00000227665.4_Missense_Mutation_p.L71M	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	71					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		AGCTTTTCCAGGAACTTGTTC	0.587													False	0	False	11:116661734	0	T	116661734	G	T	116661734	3	4	88	1	0	0	0	0	1	0	0	0	786	991	35	3	893	3	APOA5	11	116661734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	400	116661734	18344782	12245	19957											
APOA5	0	broad.mit.edu	37	chr11	116662558	116662558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagagcccaggtgagcaCggcagccatgcttgccatta	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116662558C>T	ENST00000542499.1	-	2	91	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	APOA5_ENST00000227665.4_Missense_Mutation_p.V7M	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	7					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CAGGTGAGCACGGCAGCCATG	0.632											OREG0003485|OREG0021366	type=REGULATORY REGION|Gene=APOA5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:116662558	0	T	116662558	C	T	116662558	3	4	88	1	0	0	0	0	1	0	0	0	786	536	19	1	1093	1	APOA5	11	116662558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	824	116662558	18343958	12246	19958											
APOA4	337	broad.mit.edu	37	chr11	116693862	116693862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagcttctactcaccggCgacagccaccagggccaggg	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116693862C>T	ENST00000357780.3	-	1	160	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TACTCACCGGCGACAGCCACC	0.587													False	0	False	11:116693862	0	T	116693862	C	T	116693862	3	4	88	1	0	0	0	0	1	0	0	0	785	768	27	1	1156	1	APOA4	11	116693862	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31304	116693862	18312654	12247	19959											
SIK3	23387	broad.mit.edu	37	chr11	116718256	116718256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgactgagaactgcatcCgacatccgggcagagctaag	12	11	0	3	rs139869704	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116718256C>T	ENST00000375300.1	-	22	3749	c.3744G>A	c.(3742-3744)tcG>tcA	p.S1248S	SIK3_ENST00000434315.2_Silent_p.S1029S|SIK3_ENST00000375288.1_Silent_p.S525S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000446921.2_Silent_p.S1188S|SIK3_ENST00000292055.4_Silent_p.S1190S|SIK3_ENST00000542607.1_Silent_p.S1130S|SIK3_ENST00000488337.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1190						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S1296S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAACTGCATCCGACATCCGGG	0.512													False	0	False	11:116718256	0	T	116718256	C	T	116718256	2	4	88	1	0	0	0	0	0	0	0	1	14400	639	23	1		1	SIK3	11	116718256	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24394	116718256	18288260	12248	19960											
PCSK7	9159	broad.mit.edu	37	chr11	117077055	117077055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagaagacggtgaaacaGcctaccagcaccagggtctg	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117077055G>A	ENST00000320934.3	-	17	2646	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	PCSK7_ENST00000540028.1_3'UTR|PCSK7_ENST00000529458.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	672					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CGGTGAAACAGCCTACCAGCA	0.527			T	IGH@	MLCLS								False	0	False	11:117077055	0	A	117077055	G	A	117077055	2	1	88	1	0	0	0	0	0	0	0	1	11673	958	34	2		2	PCSK7	11	117077055	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	358799	117077055	17929461	12249	19961											
RNF214	257160	broad.mit.edu	37	chr11	117105005	117105005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataatggcagcgtctgaggTtgctggtgttgtggccaatg	15	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117105005T>C	ENST00000530849.1	+	1	27	c.17T>C	c.(16-18)gTt>gCt	p.V6A	RNF214_ENST00000531452.1_Missense_Mutation_p.V6A|RNF214_ENST00000300650.4_Missense_Mutation_p.V6A|RNF214_ENST00000531287.1_Missense_Mutation_p.V6A			Q8ND24	RN214_HUMAN	ring finger protein 214	6							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GCGTCTGAGGTTGCTGGTGTT	0.453													False	0	False	11:117105005	0	C	117105005	T	C	117105005	3	2	88	1	0	0	0	0	1	0	0	0	13557	1725	60	4	19	4	RNF214	11	117105005	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27950	117105005	17901511	12250	19962											
BACE1	23621	broad.mit.edu	37	chr11	117165945	117165945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcagcaatgttggcacGcacagtgacgttggggccat	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117165945G>A	ENST00000313005.6	-	3	929	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	BACE1_ENST00000528053.1_Missense_Mutation_p.R157C|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000392937.6_Missense_Mutation_p.R57C|BACE1_ENST00000445823.2_Intron|BACE1_ENST00000510630.1_Missense_Mutation_p.R57C|BACE1_ENST00000513780.1_Missense_Mutation_p.R157C	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	157					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		ATGTTGGCACGCACAGTGACG	0.592													False	0	True	11:117165945	0	A	117165945	G	A	117165945	3	1	88	1	0	0	0	0	1	0	0	0	1285	1087	38	1	1064	1	BACE1	11	117165945	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60940	117165945	17840571	12251	19963											
BACE1	23621	broad.mit.edu	37	chr11	117166061	117166061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaggtcccggtatgtgctgGacctgtggaaagaaggcaga	17	7	0	2	rs17857093		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117166061G>A	ENST00000313005.6	-	3	813	c.353C>T	c.(352-354)tCc>tTc	p.S118F	BACE1_ENST00000528053.1_Missense_Mutation_p.S118F|BACE1_ENST00000428381.2_Missense_Mutation_p.S118F|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000392937.6_Missense_Mutation_p.S18F|BACE1_ENST00000445823.2_Missense_Mutation_p.S118F|BACE1_ENST00000510630.1_Missense_Mutation_p.S18F|BACE1_ENST00000513780.1_Missense_Mutation_p.S118F	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	118					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GTATGTGCTGGACCTGTGGAA	0.537													False	0	False	11:117166061	0	A	117166061	G	A	117166061	3	1	88	1	0	0	0	0	1	0	0	0	1285	1174	41	2	1180	2	BACE1	11	117166061	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116	117166061	17840455	12252	19964											
CEP164	22897	broad.mit.edu	37	chr11	117222548	117222548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactatttcaacttcgccaaCgggcagtctatgtgggacca	9	11	2	0	rs149281923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117222548C>T	ENST00000278935.3	+	5	384	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	79	Interaction with ATRIP.|WW.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTTCGCCAACGGGCAGTCTA	0.478													False	0	True	11:117222548	0	T	117222548	C	T	117222548	2	4	88	1	0	0	0	0	0	0	0	1	3272	535	19	1		1	CEP164	11	117222548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56487	117222548	17783968	12253	19965											
CEP164	22897	broad.mit.edu	37	chr11	117241887	117241887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactccctgcaagccctccaGcccaggtgcagacagcagtc	9	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117241887G>A	ENST00000278935.3	+	9	1004	c.857G>A	c.(856-858)aGc>aAc	p.S286N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	286					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGCCCTCCAGCCCAGGTGCA	0.552													False	0	True	11:117241887	0	A	117241887	G	A	117241887	3	1	88	1	0	0	0	0	1	0	0	0	3272	971	34	2	883	2	CEP164	11	117241887	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19339	117241887	17764629	12254	19966											
DSCAML1	57453	broad.mit.edu	37	chr11	117302397	117302397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccactggcttgagtaccGgttccgggtgctgtgggctg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117302397G>A	ENST00000321322.6	-	31	5408	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1533W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1743					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTTGAGTACCGGTTCCGGGTG	0.602													False	0	False	11:117302397	0	A	117302397	G	A	117302397	3	1	88	1	0	0	0	0	1	0	0	0	4799	1115	39	1	946	1	DSCAML1	11	117302397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60510	117302397	17704119	12255	19967											
DSCAML1	57453	broad.mit.edu	37	chr11	117303203	117303203	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcatctgtcacagggaTggtggccttgtcatctcctg	11	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117303203T>G	ENST00000321322.6	-	30	5225	c.5224A>C	c.(5224-5226)Atc>Ctc	p.I1742L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1472L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1682					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTCACAGGGATGGTGGCCTTG	0.488													False	0	False	11:117303203	0	G	117303203	T	G	117303203	3	3	88	1	0	0	0	0	1	0	0	0	4799	1464	51	4	1133	4	DSCAML1	11	117303203	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	806	117303203	17703313	12256	19968											
DSCAML1	57453	broad.mit.edu	37	chr11	117308099	117308099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttgatgtgggtgaagaGgtgttggtctttgctgaagg	19	2	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117308099G>A	ENST00000321322.6	-	26	4640	c.4639C>T	c.(4639-4641)Ctc>Ttc	p.L1547F	DSCAML1_ENST00000527706.1_Missense_Mutation_p.L1277F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1487	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGGTGAAGAGGTGTTGGTCT	0.592													False	0	False	11:117308099	0	A	117308099	G	A	117308099	3	1	88	1	0	0	0	0	1	0	0	0	4799	1000	35	2	1734	2	DSCAML1	11	117308099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4896	117308099	17698417	12257	19969											
DSCAML1	57453	broad.mit.edu	37	chr11	117392003	117392003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaggcagcaccagctccGtgttgcgataccagcggatg	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117392003G>A	ENST00000321322.6	-	6	1236	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	DSCAML1_ENST00000527706.1_Missense_Mutation_p.T142M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	352	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCAGCTCCGTGTTGCGATA	0.627													False	0	False	11:117392003	0	A	117392003	G	A	117392003	3	1	88	1	0	0	0	0	1	0	0	0	4799	1145	40	1	5218	1	DSCAML1	11	117392003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83904	117392003	17614513	12258	19970											
DSCAML1	57453	broad.mit.edu	37	chr11	117403205	117403205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacgtcagagatgtacaGcccgccgtggtaggtaataa	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117403205G>T	ENST00000321322.6	-	4	725	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	182	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAGATGTACAGCCCGCCGTGG	0.547													False	0	True	11:117403205	0	T	117403205	G	T	117403205	3	4	88	1	0	0	0	0	1	0	0	0	4799	962	34	3	5737	3	DSCAML1	11	117403205	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11202	117403205	17603311	12259	19971											
DSCAML1	57453	broad.mit.edu	37	chr11	117651219	117651219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccttacctgctttgacgCggatgttggggctccggatc	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117651219C>T	ENST00000321322.6	-	2	534	c.533G>A	c.(532-534)cGc>cAc	p.R178H	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	118	Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTTTGACGCGGATGTTGGG	0.587													False	0	False	11:117651219	0	T	117651219	C	T	117651219	3	4	88	1	0	0	0	0	1	0	0	0	4799	768	27	1	5936	1	DSCAML1	11	117651219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248014	117651219	17355297	12260	19972											
IL10RA	3587	broad.mit.edu	37	chr11	117860269	117860269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctaccgggccagagtgCgggctgtggacggcagccgg	19	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117860269C>T	ENST00000227752.3	+	3	421	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.R81W	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	101						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGCCAGAGTGCGGGCTGTGGA	0.577													False	0	True	11:117860269	0	T	117860269	C	T	117860269	3	4	88	1	0	0	0	0	1	0	0	0	7670	759	27	1	311	1	IL10RA	11	117860269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209050	117860269	17146247	12261	19973											
IL10RA	3587	broad.mit.edu	37	chr11	117869470	117869470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatcttcatcagccagcGtccctccccagagacccaag	6	18	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117869470G>A	ENST00000227752.3	+	7	971	c.851G>A	c.(850-852)cGt>cAt	p.R284H	IL10RA_ENST00000545409.1_Missense_Mutation_p.R135H|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.R264H	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	284						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATCAGCCAGCGTCCCTCCCCA	0.582													False	0	True	11:117869470	0	A	117869470	G	A	117869470	3	1	88	1	0	0	0	0	1	0	0	0	7670	1145	40	1	877	1	IL10RA	11	117869470	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9201	117869470	17137046	12262	19974											
TMPRSS4	56649	broad.mit.edu	37	chr11	117975511	117975511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagctctcgctgagacagCctgtaggcagatgggctaca	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117975511C>T	ENST00000534111.1	+	5	675	c.410C>T	c.(409-411)gCc>gTc	p.A137V	TMPRSS4_ENST00000522824.1_Missense_Mutation_p.A139V|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.A99V|TMPRSS4_ENST00000437212.3_Missense_Mutation_p.A139V	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	139	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GCTGAGACAGCCTGTAGGCAG	0.562													False	0	False	11:117975511	0	T	117975511	C	T	117975511	3	4	88	1	0	0	0	0	1	0	0	0	16331	739	26	2	434	2	TMPRSS4	11	117975511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106041	117975511	17031005	12263	19975											
SCN4B	6330	broad.mit.edu	37	chr11	118015933	118015933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgacagggttacggggaGcaggaagaggcctgtgtaag	18	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118015933G>A	ENST00000324727.4	-	2	219	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	SCN4B_ENST00000529878.1_Intron	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	25						voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		GTTACGGGGAGCAGGAAGAGG	0.607											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:118015933	0	A	118015933	G	A	118015933	3	1	88	1	0	0	0	0	1	0	0	0	14002	971	34	2	629	2	SCN4B	11	118015933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40422	118015933	16990583	12264	19976											
SCN2B	6327	broad.mit.edu	37	chr11	118038968	118038968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacgcggtcttgaaaccGctccagcttcaggttaatga	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118038968G>A	ENST00000278947.5	-	3	521	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	94	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		TCTTGAAACCGCTCCAGCTTC	0.542													False	0	False	11:118038968	0	A	118038968	G	A	118038968	3	1	88	1	0	0	0	0	1	0	0	0	13998	1086	38	1	375	1	SCN2B	11	118038968	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23035	118038968	16967548	12265	19977											
SCN2B	6327	broad.mit.edu	37	chr11	118039321	118039321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcctcagagcagttgttGcactcctggtaagtccagtt	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118039321G>A	ENST00000278947.5	-	2	457	c.216C>T	c.(214-216)tgC>tgT	p.C72C		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	72	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		AGCAGTTGTTGCACTCCTGGT	0.607													False	0	False	11:118039321	0	A	118039321	G	A	118039321	2	1	88	1	0	0	0	0	0	0	0	1	13998	1311	46	2		2	SCN2B	11	118039321	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	118039321	16967195	12266	19978											
AMICA1	120425	broad.mit.edu	37	chr11	118068807	118068807	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agactgtagaattcactgaaCtgcaagacatgaaaagcatg	9	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118068807C>A	ENST00000292067.7	-	7	1323		c.e7-1		AMICA1_ENST00000526620.1_Splice_Site|AMICA1_ENST00000356289.5_Splice_Site|AMICA1_ENST00000533261.1_Splice_Site	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1						blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATTCACTGAACTGCAAGACAT	0.443											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:118068807	0	A	118068807	C	A	118068807	5	1	88	1	0	0	0	0	0	0	1	0	574	579	20	3	285	3	AMICA1	11	118068807	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29486	118068807	16937709	12267	19979											
AMICA1	120425	broad.mit.edu	37	chr11	118083625	118083625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttagaaactcacctccaCttaccataacgacgaaatgg	5	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118083625C>T	ENST00000292067.7	-	1	449	c.8G>A	c.(7-9)aGt>aAt	p.S3N	AMICA1_ENST00000526620.1_Intron|AMICA1_ENST00000356289.5_Intron|AMICA1_ENST00000533261.1_Intron	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	0					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTCACCTCCACTTACCATAAC	0.408													False	0	False	11:118083625	0	T	118083625	C	T	118083625	3	4	88	1	0	0	0	0	1	0	0	0	574	565	20	2	1182	2	AMICA1	11	118083625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14818	118083625	16922891	12268	19980											
CD3E	916	broad.mit.edu	37	chr11	118179150	118179150	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttccttttcaggtaatgaaGaaatgggtaagaagatttcc	9	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118179150G>T	ENST00000361763.4	+	4	370	c.79G>T	c.(79-81)Gaa>Taa	p.E27*	CD3E_ENST00000528600.1_Nonsense_Mutation_p.E27*	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	27					G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	AGGTAATGAAGAAATGGGTAA	0.393													False	0	True	11:118179150	0	T	118179150	G	T	118179150	4	4	88	1	0	0	0	0	0	1	0	0	3034	943	33	3	89	3	CD3E	11	118179150	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95525	118179150	16827366	12269	19981											
UBE4A	9354	broad.mit.edu	37	chr11	118247314	118247314	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacaaagaaacctgtttgatCccagctgtgcaggagccgaa	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118247314C>A	ENST00000252108.3	+	10	1607	c.1476C>A	c.(1474-1476)atC>atA	p.I492I	UBE4A_ENST00000431736.2_Silent_p.I499I	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	492					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCTGTTTGATCCCAGCTGTGC	0.418													False	0	True	11:118247314	0	A	118247314	C	A	118247314	2	1	88	1	0	0	0	0	0	0	0	1	16966	845	30	3		3	UBE4A	11	118247314	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68164	118247314	16759202	12270	19982											
UBE4A	9354	broad.mit.edu	37	chr11	118263583	118263583	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccagagtcactgtggataGatccaccattgcaagacatt	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118263583G>A	ENST00000252108.3	+	19	3178	c.3047G>A	c.(3046-3048)aGa>aAa	p.R1016K	UBE4A_ENST00000431736.2_Missense_Mutation_p.R1023K|UBE4A_ENST00000545354.1_Missense_Mutation_p.R488K	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1016	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACTGTGGATAGATCCACCATT	0.458													False	0	False	11:118263583	0	A	118263583	G	A	118263583	3	1	88	1	0	0	0	0	1	0	0	0	16966	942	33	2	3138	2	UBE4A	11	118263583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16269	118263583	16742933	12271	19983											
IFT46	56912	broad.mit.edu	37	chr11	118425964	118425964	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggaggtcctagtactcaccTactgatgtactggaagagtt	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118425964T>G	ENST00000264020.2	-	6	789	c.412A>C	c.(412-414)Agg>Cgg	p.R138R	IFT46_ENST00000530872.1_Splice_Site_p.R138R|IFT46_ENST00000264021.3_Splice_Site_p.R87R	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	87					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						AGTACTCACCTACTGATGTAC	0.463													False	0	False	11:118425964	0	G	118425964	T	G	118425964	5	3	88	1	0	0	0	0	0	0	1	0	7610	1536	53	4	687	4	IFT46	11	118425964	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	162381	118425964	16580552	12272	19984											
IFT46	56912	broad.mit.edu	37	chr11	118428591	118428591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggagcctgtggcatGccctcccttaggacctgaag	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118428591G>A	ENST00000264020.2	-	4	437	c.60C>T	c.(58-60)ggC>ggT	p.G20G	IFT46_ENST00000530872.1_Silent_p.G20G|IFT46_ENST00000264021.3_Intron	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	15					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CCTGTGGCATGCCCTCCCTTA	0.498													False	0	True	11:118428591	0	A	118428591	G	A	118428591	2	1	88	1	0	0	0	0	0	0	0	1	7610	1306	46	2		2	IFT46	11	118428591	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2627	118428591	16577925	12273	19985											
ARCN1	372	broad.mit.edu	37	chr11	118453977	118453977	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgcttttgatgaaattgtCgcactgggataccgggagaa	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118453977C>T	ENST00000359415.4	+	4	639	c.474C>T	c.(472-474)gtC>gtT	p.V158V	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Silent_p.V29V|ARCN1_ENST00000264028.4_Silent_p.V117V			P48444	COPD_HUMAN	archain 1	117					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATGAAATTGTCGCACTGGGAT	0.428													False	0	False	11:118453977	0	T	118453977	C	T	118453977	2	4	88	1	0	0	0	0	0	0	0	1	844	871	31	1		1	ARCN1	11	118453977	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25386	118453977	16552539	12274	19986											
ARCN1	372	broad.mit.edu	37	chr11	118454554	118454554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagctaaggctgagatgCgtcgtaaagcaaaggaatta	13	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118454554C>T	ENST00000359415.4	+	5	766	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.R72C|ARCN1_ENST00000264028.4_Missense_Mutation_p.R160C			P48444	COPD_HUMAN	archain 1	160					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGCTGAGATGCGTCGTAAAGC	0.443													False	0	False	11:118454554	0	T	118454554	C	T	118454554	3	4	88	1	0	0	0	0	1	0	0	0	844	768	27	1	492	1	ARCN1	11	118454554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	577	118454554	16551962	12275	19987											
PHLDB1	23187	broad.mit.edu	37	chr11	118498785	118498785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggcagtgagcgggtgCtaacaaccagcccctcacgc	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118498785C>T	ENST00000361417.2	+	7	1657	c.1246C>T	c.(1246-1248)Cta>Tta	p.L416L	PHLDB1_ENST00000356063.5_Silent_p.L416L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	416								p.L416V(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGAGCGGGTGCTAACAACCAG	0.637													False	0	False	11:118498785	0	T	118498785	C	T	118498785	2	4	88	1	0	0	0	0	0	0	0	1	11920	796	28	2		2	PHLDB1	11	118498785	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44231	118498785	16507731	12276	19988											
PHLDB1	23187	broad.mit.edu	37	chr11	118502965	118502965	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggcagtggatcagctgcaGgagaagctggtggccttgga	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118502965G>T	ENST00000361417.2	+	10	2742	c.2331G>T	c.(2329-2331)caG>caT	p.Q777H	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.Q777H	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	777										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATCAGCTGCAGGAGAAGCTGG	0.627													False	0	False	11:118502965	0	T	118502965	G	T	118502965	3	4	88	1	0	0	0	0	1	0	0	0	11920	991	35	3	2361	3	PHLDB1	11	118502965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4180	118502965	16503551	12277	19989											
PHLDB1	23187	broad.mit.edu	37	chr11	118521155	118521155	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcttcctaccaggtctgCcgtggctacttggtcaagat	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118521155C>A	ENST00000361417.2	+	21	4188	c.3777C>A	c.(3775-3777)tgC>tgA	p.C1259*	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_Nonsense_Mutation_p.C402*|PHLDB1_ENST00000527898.1_Nonsense_Mutation_p.C310*|PHLDB1_ENST00000356063.5_Nonsense_Mutation_p.C1212*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1259	PH.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACCAGGTCTGCCGTGGCTACT	0.522													False	0	False	11:118521155	0	A	118521155	C	A	118521155	4	1	88	1	0	0	0	0	0	1	0	0	11920	747	26	3	3851	3	PHLDB1	11	118521155	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18190	118521155	16485361	12278	19990											
TREH	11181	broad.mit.edu	37	chr11	118530097	118530097	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctctgatgaccaggtcctGcaggggggcccaggcattgg	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118530097G>A	ENST00000529101.1	-	12	1459	c.1414C>T	c.(1414-1416)Cag>Tag	p.Q472*	TREH_ENST00000530256.1_Nonsense_Mutation_p.Q349*|TREH_ENST00000264029.4_Nonsense_Mutation_p.Q472*|TREH_ENST00000525958.1_Nonsense_Mutation_p.Q441*|TREH_ENST00000397925.1_Nonsense_Mutation_p.Q441*			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	472					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		ACCAGGTCCTGCAGGGGGGCC	0.612											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:118530097	0	A	118530097	G	A	118530097	4	1	88	1	0	0	0	0	0	1	0	0	16552	1328	46	2	352	2	TREH	11	118530097	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8942	118530097	16476419	12279	19991											
DDX6	1656	broad.mit.edu	37	chr11	118625471	118625471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtattctgccacatacaGgctcttatcaatgttgctcg	9	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118625471G>A	ENST00000264018.4	-	13	1707	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	DDX6_ENST00000526070.2_Silent_p.L468L|DDX6_ENST00000534980.1_Silent_p.L468L	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	468	Helicase C-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GCCACATACAGGCTCTTATCA	0.428			T	IGH@	B-NHL								False	0	False	11:118625471	0	A	118625471	G	A	118625471	2	1	88	1	0	0	0	0	0	0	0	1	4402	991	35	2		2	DDX6	11	118625471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95374	118625471	16381045	12280	19992											
BCL9L	283149	broad.mit.edu	37	chr11	118769762	118769762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtatgcgtcgcccatgcGcccagccatggctttgccca	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118769762G>A	ENST00000334801.3	-	8	4826	c.3862C>T	c.(3862-3864)Cgc>Tgc	p.R1288C	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1288	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCGCCCATGCGCCCAGCCATG	0.692													False	0	True	11:118769762	0	A	118769762	G	A	118769762	3	1	88	1	0	0	0	0	1	0	0	0	1386	1087	38	1	641	1	BCL9L	11	118769762	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144291	118769762	16236754	12281	19993											
BCL9L	283149	broad.mit.edu	37	chr11	118770898	118770898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccgggggccgctaggcGggagggtacctacagaaacg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118770898G>A	ENST00000334801.3	-	7	4098	c.3134C>T	c.(3133-3135)cCg>cTg	p.P1045L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1045	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCCGCTAGGCGGGAGGGTACC	0.627													False	0	True	11:118770898	0	A	118770898	G	A	118770898	3	1	88	1	0	0	0	0	1	0	0	0	1386	1116	39	1	1373	1	BCL9L	11	118770898	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1136	118770898	16235618	12282	19994											
BCL9L	283149	broad.mit.edu	37	chr11	118772712	118772712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacatccatgggcccccgCagctgcgcacccattccagg	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118772712C>T	ENST00000334801.3	-	6	2704	c.1740G>A	c.(1738-1740)ctG>ctA	p.L580L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	580					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGGCCCCCGCAGCTGCGCAC	0.647													False	0	False	11:118772712	0	T	118772712	C	T	118772712	2	4	88	1	0	0	0	0	0	0	0	1	1386	697	25	2		2	BCL9L	11	118772712	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1814	118772712	16233804	12283	19995											
BCL9L	283149	broad.mit.edu	37	chr11	118773616	118773616	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtggggggcactttagggGcctgcagaaggacaaagaga	19	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118773616G>T	ENST00000334801.3	-	6	1800	c.836C>A	c.(835-837)gCc>gAc	p.A279D	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	279					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CACTTTAGGGGCCTGCAGAAG	0.677													False	0	True	11:118773616	0	T	118773616	G	T	118773616	5	4	88	1	0	0	0	0	0	0	1	0	1386	1217	42	3	3675	3	BCL9L	11	118773616	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	904	118773616	16232900	12284	19996											
CCDC84	338657	broad.mit.edu	37	chr11	118881506	118881506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggtgaaaggtttggattCctatgaagaaaaggaggata	13	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118881506C>T	ENST00000334418.1	+	4	472	c.416C>T	c.(415-417)tCc>tTc	p.S139F	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	139										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GGTTTGGATTCCTATGAAGAA	0.438													False	0	False	11:118881506	0	T	118881506	C	T	118881506	3	4	88	1	0	0	0	0	1	0	0	0	2879	855	30	2	430	2	CCDC84	11	118881506	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107890	118881506	16125010	12285	19997											
HYOU1	10525	broad.mit.edu	37	chr11	118919076	118919076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtactcgggctggtacaGcttgtcctggggagggggac	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118919076G>A	ENST00000404233.3	-	20	2384	c.2260C>T	c.(2260-2262)Ctg>Ttg	p.L754L	HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000525859.1_Silent_p.L692L|HYOU1_ENST00000529972.1_Silent_p.L692L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	754						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGCTGGTACAGCTTGTCCTGG	0.627													False	0	False	11:118919076	0	A	118919076	G	A	118919076	2	1	88	1	0	0	0	0	0	0	0	1	7520	962	34	2		2	HYOU1	11	118919076	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37570	118919076	16087440	12286	19998											
VPS11	55823	broad.mit.edu	37	chr11	118949921	118949921	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaaactacagaaacagagCcagcagattgcacaggatga	9	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118949921C>T	ENST00000300793.6	+	15	2388	c.2346C>T	c.(2344-2346)agC>agT	p.S782S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	783					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGAAACAGAGCCAGCAGATTG	0.602													False	0	False	11:118949921	0	T	118949921	C	T	118949921	2	4	88	1	0	0	0	0	0	0	0	1	17272	738	26	2		2	VPS11	11	118949921	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30845	118949921	16056595	12287	19999											
C2CD2L	9854	broad.mit.edu	37	chr11	118978770	118978770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaactggcagcgggcttggGtgcgagcgctgaacgagcag	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118978770G>T	ENST00000336702.3	+	1	678	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L	DPAGT1_ENST00000409993.2_5'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	107						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GCGGGCTTGGGTGCGAGCGCT	0.662													False	0	True	11:118978770	0	T	118978770	G	T	118978770	3	4	88	1	0	0	0	0	1	0	0	0	2169	1261	44	3	321	3	C2CD2L	11	118978770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28849	118978770	16027746	12288	20000											
C2CD2L	9854	broad.mit.edu	37	chr11	118983078	118983078	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggagctgaccctcaaagtgCtgaggagcagcagctgtgga	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118983078C>A	ENST00000336702.3	+	8	1419	c.1060C>A	c.(1060-1062)Ctg>Atg	p.L354M	C2CD2L_ENST00000528586.1_Missense_Mutation_p.L102M	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	354						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCAAAGTGCTGAGGAGCAG	0.617													False	0	False	11:118983078	0	A	118983078	C	A	118983078	3	1	88	1	0	0	0	0	1	0	0	0	2169	796	28	3	1090	3	C2CD2L	11	118983078	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4308	118983078	16023438	12289	20001											
C2CD2L	9854	broad.mit.edu	37	chr11	118983574	118983574	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcccggccccgtatagaCggcaaattaggtaaagagaa	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118983574C>T	ENST00000336702.3	+	10	1736	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	C2CD2L_ENST00000528586.1_Silent_p.D207D	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	459						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCGTATAGACGGCAAATTAG	0.572													False	0	False	11:118983574	0	T	118983574	C	T	118983574	2	4	88	1	0	0	0	0	0	0	0	1	2169	535	19	1		1	C2CD2L	11	118983574	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	496	118983574	16022942	12290	20002											
C2CD2L	9854	broad.mit.edu	37	chr11	118984415	118984415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcaatacctcccatagCagcagccgtgagtggggaat	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118984415C>T	ENST00000336702.3	+	11	1841	c.1482C>T	c.(1480-1482)agC>agT	p.S494S	C2CD2L_ENST00000528586.1_Silent_p.S242S	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	494						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCCCATAGCAGCAGCCGTG	0.597													False	0	True	11:118984415	0	T	118984415	C	T	118984415	2	4	88	1	0	0	0	0	0	0	0	1	2169	709	25	2		2	C2CD2L	11	118984415	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	841	118984415	16022101	12291	20003											
C2CD2L	9854	broad.mit.edu	37	chr11	118984608	118984608	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccctgtagcagagacAgcgattcgccagctgacaga	12	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118984608A>G	ENST00000336702.3	+	12	1895	c.1536A>G	c.(1534-1536)acA>acG	p.T512T	C2CD2L_ENST00000528586.1_Silent_p.T259T	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	511						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TAGCAGAGACAGCGATTCGCC	0.567													False	0	False	11:118984608	0	G	118984608	A	G	118984608	2	3	88	1	0	0	0	0	0	0	0	1	2169	175	7	4		4	C2CD2L	11	118984608	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	193	118984608	16021908	12292	20004											
HINFP	25988	broad.mit.edu	37	chr11	119003275	119003275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctattgcgggaccacatgcGcaaccatggtgagtggcctg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003275G>A	ENST00000350777.2	+	6	809	c.746G>A	c.(745-747)cGc>cAc	p.R249H	HINFP_ENST00000527410.1_Missense_Mutation_p.R249H	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	249					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACCACATGCGCAACCATGGT	0.582													False	0	False	11:119003275	0	A	119003275	G	A	119003275	3	1	88	1	0	0	0	0	1	0	0	0	7157	1087	38	1	764	1	HINFP	11	119003275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18667	119003275	16003241	12293	20005											
HINFP	25988	broad.mit.edu	37	chr11	119003439	119003439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccctccgcaaccacatgCgctttcgtcacagtgaggac	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003439C>T	ENST00000350777.2	+	7	886	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	HINFP_ENST00000527410.1_Missense_Mutation_p.R275C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	275					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAACCACATGCGCTTTCGTCA	0.542													False	0	False	11:119003439	0	T	119003439	C	T	119003439	3	4	88	1	0	0	0	0	1	0	0	0	7157	768	27	1	845	1	HINFP	11	119003439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164	119003439	16003077	12294	20006											
HINFP	25988	broad.mit.edu	37	chr11	119003857	119003857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgacaaatgcttcacacGgggcaacaacctcaccgtgc	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003857G>A	ENST00000350777.2	+	9	1130	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	HINFP_ENST00000527410.1_Missense_Mutation_p.R356Q	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	356					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	p.R356Q(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGCTTCACACGGGGCAACAAC	0.542													False	0	True	11:119003857	0	A	119003857	G	A	119003857	3	1	88	1	0	0	0	0	1	0	0	0	7157	1116	39	1	1097	1	HINFP	11	119003857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	418	119003857	16002659	12295	20007											
HINFP	25988	broad.mit.edu	37	chr11	119004915	119004915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgggaacgtcgctgaacGagagcagcctgcagggcatt	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119004915G>A	ENST00000350777.2	+	10	1324	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	HINFP_ENST00000527410.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	421	Interaction with NPAT.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTCGCTGAACGAGAGCAGCCT	0.587											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:119004915	0	A	119004915	G	A	119004915	3	1	88	1	0	0	0	0	1	0	0	0	7157	1059	37	1	1295	1	HINFP	11	119004915	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1058	119004915	16001601	12296	20008											
ABCG4	64137	broad.mit.edu	37	chr11	119030980	119030980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcattgtgtactggatgaCgggccagcccgctgagacca	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119030980C>T	ENST00000307417.3	+	13	1845	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	ABCG4_ENST00000449422.2_Missense_Mutation_p.T494M|ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	494	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.T494M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TACTGGATGACGGGCCAGCCC	0.647													False	0	True	11:119030980	0	T	119030980	C	T	119030980	3	4	88	1	0	0	0	0	1	0	0	0	70	536	19	1	1527	1	ABCG4	11	119030980	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26065	119030980	15975536	12297	20009											
NLRX1	79671	broad.mit.edu	37	chr11	119045222	119045222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatccccagcaagtacgtgGgccgctatggtgagatctgc	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119045222G>A	ENST00000409109.1	+	6	1497	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	NLRX1_ENST00000409991.1_Missense_Mutation_p.G304S|NLRX1_ENST00000292199.2_Missense_Mutation_p.G304S|NLRX1_ENST00000525863.1_Missense_Mutation_p.G304S|NLRX1_ENST00000409265.4_Missense_Mutation_p.G304S	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	304	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CAAGTACGTGGGCCGCTATGG	0.572													False	0	True	11:119045222	0	A	119045222	G	A	119045222	3	1	88	1	0	0	0	0	1	0	0	0	10553	1232	43	2	928	2	NLRX1	11	119045222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14242	119045222	15961294	12298	20010											
NLRX1	79671	broad.mit.edu	37	chr11	119045408	119045408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcaccaccagatagccGctgcctgcttcctgccgtcc	11	17	0	1	rs141429802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119045408G>A	ENST00000409109.1	+	6	1683	c.1096G>A	c.(1096-1098)Gct>Act	p.A366T	NLRX1_ENST00000409991.1_Missense_Mutation_p.A366T|NLRX1_ENST00000292199.2_Missense_Mutation_p.A366T|NLRX1_ENST00000525863.1_Missense_Mutation_p.A366T|NLRX1_ENST00000409265.4_Missense_Mutation_p.A366T	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	366	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCAGATAGCCGCTGCCTGCTT	0.612													False	0	True	11:119045408	0	A	119045408	G	A	119045408	3	1	88	1	0	0	0	0	1	0	0	0	10553	1087	38	1	1114	1	NLRX1	11	119045408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186	119045408	15961108	12299	20011											
MCAM	4162	broad.mit.edu	37	chr11	119181118	119181118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaggcccatctcttctgGgagcttatctgacttaactt	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119181118G>A	ENST00000264036.4	-	15	1866	c.1852C>T	c.(1852-1854)Cca>Tca	p.P618S	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	618					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATCTCTTCTGGGAGCTTATCT	0.602													False	0	True	11:119181118	0	A	119181118	G	A	119181118	3	1	88	1	0	0	0	0	1	0	0	0	9435	1232	43	2	96	2	MCAM	11	119181118	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135710	119181118	15825398	12300	20012											
MFRP	83552	broad.mit.edu	37	chr11	119212585	119212585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgtaaccgctgaggacCtctaccacctcctcctgggt	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119212585C>T	ENST00000555262.1	-	12	1656	c.1497G>A	c.(1495-1497)gaG>gaA	p.E499E	MFRP_ENST00000530681.1_Silent_p.E499E|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Silent_p.E499E|MFRP_ENST00000360167.4_Intron	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CGCTGAGGACCTCTACCACCT	0.632													False	0	False	11:119212585	0	T	119212585	C	T	119212585	2	4	88	1	0	0	0	0	0	0	0	1	9593	680	24	2		2	MFRP	11	119212585	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31467	119212585	15793931	12301	20013											
MFRP	83552	broad.mit.edu	37	chr11	119216795	119216795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcccaagcagcaggaGgagcaggctggagagcagga	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119216795G>A	ENST00000555262.1	-	3	391	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	MFRP_ENST00000530681.1_Missense_Mutation_p.L78F|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.L78F|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.L78F	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGCAGCAGGAGGAGCAGGCTG	0.627													False	0	False	11:119216795	0	A	119216795	G	A	119216795	3	1	88	1	0	0	0	0	1	0	0	0	9593	1000	35	2	1551	2	MFRP	11	119216795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4210	119216795	15789721	12302	20014											
USP2	9099	broad.mit.edu	37	chr11	119243427	119243427	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaaactcaccatgccgtctCttcccggggagctggagcgg	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119243427C>A	ENST00000260187.2	-	2	1058	c.764G>T	c.(763-765)aGa>aTa	p.R255I	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	255					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CATGCCGTCTCTTCCCGGGGA	0.642													False	0	False	11:119243427	0	A	119243427	C	A	119243427	3	1	88	1	0	0	0	0	1	0	0	0	17135	913	32	3	1252	3	USP2	11	119243427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26632	119243427	15763089	12303	20015											
USP2	9099	broad.mit.edu	37	chr11	119244150	119244150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcatctgtgtagcgggccGattctgtgtagcgcttcagg	16	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119244150G>A	ENST00000260187.2	-	2	335	c.41C>T	c.(40-42)tCg>tTg	p.S14L	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	14	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GTAGCGGGCCGATTCTGTGTA	0.592													False	0	False	11:119244150	0	A	119244150	G	A	119244150	3	1	88	1	0	0	0	0	1	0	0	0	17135	1059	37	1	1975	1	USP2	11	119244150	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	723	119244150	15762366	12304	20016											
PVRL1	5818	broad.mit.edu	37	chr11	119535612	119535612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatccacggtgaagtaggGccgcttggcgtcctcgtcat	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535612G>A	ENST00000264025.3	-	6	1929	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	467					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTGAAGTAGGGCCGCTTGGCG	0.662													False	0	True	11:119535612	0	A	119535612	G	A	119535612	3	1	88	1	0	0	0	0	1	0	0	0	12918	1203	42	2	544	2	PVRL1	11	119535612	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291462	119535612	15470904	12305	20017											
PVRL1	5818	broad.mit.edu	37	chr11	119535964	119535964	+	Silent	SNP	G	G	A													atggccgtgggcaccggcccGgcgcgccgcccatgttcggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535964G>A	ENST00000264025.3	-	6	1577	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	349					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCACCGGCCCGGCGCGCCGCC	0.677													False	0	True	11:119535964	0	A	119535964	G	A	119535964	2	1	88	1	0	0	0	0	0	0	0	1	12918	1103	39	1		1	PVRL1	11	119535964	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	352	119535964	15470552	12306	20018	225	2									
PVRL1	5818	broad.mit.edu	37	chr11	119535972	119535972	+	Missense_Mutation	SNP	G	G	A													gggcaccggcccggcgcgccGcccatgttcgggaggagacg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535972G>A	ENST00000264025.3	-	6	1569	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	347					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCGGCGCGCCGCCCATGTTCG	0.672													False	0	True	11:119535972	0	A	119535972	G	A	119535972	3	1	88	1	0	0	0	0	1	0	0	0	12918	1086	38	1	904	1	PVRL1	11	119535972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	119535972	15470544	12307	20019	225	2									
TRIM29	23650	broad.mit.edu	37	chr11	120008617	120008617	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccgccgtgcccgttggtggtCttggcatccttgccgtcagc	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120008617C>T	ENST00000341846.5	-	1	544	c.123G>A	c.(121-123)aaG>aaA	p.K41K		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	41					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGTTGGTGGTCTTGGCATCCT	0.687													False	0	False	11:120008617	0	T	120008617	C	T	120008617	2	4	88	1	0	0	0	0	0	0	0	1	16586	912	32	2		2	TRIM29	11	120008617	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	472645	120008617	14997899	12308	20020											
OAF	220323	broad.mit.edu	37	chr11	120097673	120097673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggatgccatctacacccGccaggaggatgtccggttct	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120097673G>A	ENST00000328965.4	+	3	1028	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OAF_ENST00000531220.1_Missense_Mutation_p.R56H	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	172										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ATCTACACCCGCCAGGAGGAT	0.647													False	0	True	11:120097673	0	A	120097673	G	A	120097673	3	1	88	1	0	0	0	0	1	0	0	0	10866	1087	38	1	525	1	OAF	11	120097673	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89056	120097673	14908843	12309	20021											
ARHGEF12	23365	broad.mit.edu	37	chr11	120343820	120343820	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgtcagagtacccaaAtgttgaagagctcagggtga	13	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120343820A>C	ENST00000397843.2	+	31	3183	c.3017A>C	c.(3016-3018)aAt>aCt	p.N1006T	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.N903T|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.N987T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1006					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAGTACCCAAATGTTGAAGAG	0.408			T	MLL	AML								False	0	True	11:120343820	0	C	120343820	A	C	120343820	3	2	88	1	0	0	0	0	1	0	0	0	899	101	4	4	3139	4	ARHGEF12	11	120343820	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	246147	120343820	14662696	12310	20022											
ARHGEF12	23365	broad.mit.edu	37	chr11	120347416	120347416	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtcagacaatggcgctcaGatttatgaactggtggcaca	11	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120347416G>T	ENST00000397843.2	+	34	3490	c.3324G>T	c.(3322-3324)caG>caT	p.Q1108H	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.Q1005H|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.Q1089H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1108	PH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATGGCGCTCAGATTTATGAAC	0.383			T	MLL	AML								False	0	False	11:120347416	0	T	120347416	G	T	120347416	3	4	88	1	0	0	0	0	1	0	0	0	899	933	33	3	3458	3	ARHGEF12	11	120347416	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3596	120347416	14659100	12311	20023											
ARHGEF12	23365	broad.mit.edu	37	chr11	120348237	120348237	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggtttgcagagtccaggTacactcttctgaagagttca	10	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120348237T>C	ENST00000397843.2	+	36	3698		c.e36+2		ARHGEF12_ENST00000532993.1_Splice_Site|ARHGEF12_ENST00000356641.3_Splice_Site	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12						apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGAGTCCAGGTACACTCTTCT	0.423			T	MLL	AML								False	0	False	11:120348237	0	C	120348237	T	C	120348237	5	2	88	1	0	0	0	0	0	0	1	0	899	1652	57	4	3676	4	ARHGEF12	11	120348237	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	821	120348237	14658279	12312	20024											
ARHGEF12	23365	broad.mit.edu	37	chr11	120355208	120355208	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatcagccctcacagacaAgcactcaggtatgtaaaagt	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120355208A>C	ENST00000397843.2	+	40	4782	c.4616A>C	c.(4615-4617)aAg>aCg	p.K1539T	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K1436T|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K1520T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1539					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTCACAGACAAGCACTCAGGT	0.388			T	MLL	AML								False	0	False	11:120355208	0	C	120355208	A	C	120355208	3	2	88	1	0	0	0	0	1	0	0	0	899	72	3	4	4774	4	ARHGEF12	11	120355208	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6971	120355208	14651308	12313	20025											
GRIK4	2900	broad.mit.edu	37	chr11	120769288	120769288	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcagcatggacagccacctCtatgcctccaacatctcgga	7	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120769288C>A	ENST00000527524.2	+	12	1499	c.1212C>A	c.(1210-1212)ctC>ctA	p.L404L	GRIK4_ENST00000438375.2_Silent_p.L404L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	404					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ACAGCCACCTCTATGCCTCCA	0.602													False	0	False	11:120769288	0	A	120769288	C	A	120769288	2	1	88	1	0	0	0	0	0	0	0	1	6823	900	32	3		3	GRIK4	11	120769288	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	414080	120769288	14237228	12314	20026											
TBCEL	219899	broad.mit.edu	37	chr11	120930756	120930756	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagattttttattcgTtactatgtggatgttccaca	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120930756T>C	ENST00000422003.2	+	7	1106	c.918T>C	c.(916-918)cgT>cgC	p.R306R	TBCEL_ENST00000529397.1_Silent_p.R306R	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	306						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TTTTTATTCGTTACTATGTGG	0.383													False	0	False	11:120930756	0	C	120930756	T	C	120930756	2	2	88	1	0	0	0	0	0	0	0	1	15717	1712	60	4		4	TBCEL	11	120930756	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	161468	120930756	14075760	12315	20027											
TECTA	7007	broad.mit.edu	37	chr11	120989026	120989026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attccccaggacaattccttCggcgaggggaggtgttttgg	14	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120989026C>T	ENST00000392793.1	+	7	1073	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	TECTA_ENST00000264037.2_Missense_Mutation_p.R268W			O75443	TECTA_HUMAN	tectorin alpha	268	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAATTCCTTCGGCGAGGGGA	0.493													False	0	False	11:120989026	0	T	120989026	C	T	120989026	3	4	88	1	0	0	0	0	1	0	0	0	15829	875	31	1	824	1	TECTA	11	120989026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58270	120989026	14017490	12316	20028											
TECTA	7007	broad.mit.edu	37	chr11	120989208	120989208	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtggtgtttggggagccAcactaccacacttttgacgg	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120989208A>G	ENST00000392793.1	+	7	1255	c.984A>G	c.(982-984)ccA>ccG	p.P328P	TECTA_ENST00000264037.2_Silent_p.P328P			O75443	TECTA_HUMAN	tectorin alpha	328	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTGGGGAGCCACACTACCACA	0.557													False	0	False	11:120989208	0	G	120989208	A	G	120989208	2	3	88	1	0	0	0	0	0	0	0	1	15829	146	6	4		4	TECTA	11	120989208	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	182	120989208	14017308	12317	20029											
TECTA	7007	broad.mit.edu	37	chr11	120998829	120998829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgggagaccgtgtgcctgCtcagccagaaccaggtgctg	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120998829C>T	ENST00000392793.1	+	9	2414	c.2143C>T	c.(2143-2145)Ctc>Ttc	p.L715F	TECTA_ENST00000264037.2_Missense_Mutation_p.L715F			O75443	TECTA_HUMAN	tectorin alpha	715	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGTGTGCCTGCTCAGCCAGAA	0.652													False	0	False	11:120998829	0	T	120998829	C	T	120998829	3	4	88	1	0	0	0	0	1	0	0	0	15829	797	28	2	2173	2	TECTA	11	120998829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9621	120998829	14007687	12318	20030											
TECTA	7007	broad.mit.edu	37	chr11	121000350	121000350	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgacttgatttttcagttgAatggtcaggaagtggaattg	12	3	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121000350A>G	ENST00000392793.1	+	10	2642	c.2371A>G	c.(2371-2373)Aat>Gat	p.N791D	TECTA_ENST00000264037.2_Missense_Mutation_p.N791D			O75443	TECTA_HUMAN	tectorin alpha	791	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTTCAGTTGAATGGTCAGGA	0.448													False	0	False	11:121000350	0	G	121000350	A	G	121000350	3	3	88	1	0	0	0	0	1	0	0	0	15829	246	9	4	2405	4	TECTA	11	121000350	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1521	121000350	14006166	12319	20031											
TECTA	7007	broad.mit.edu	37	chr11	121028656	121028656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcagacgaggagtgtgCgctgcgcaacggggtgcgcg	18	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121028656C>T	ENST00000392793.1	+	14	4683	c.4412C>T	c.(4411-4413)gCg>gTg	p.A1471V	TECTA_ENST00000264037.2_Missense_Mutation_p.A1471V			O75443	TECTA_HUMAN	tectorin alpha	1471					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGAGTGTGCGCTGCGCAAC	0.667													False	0	True	11:121028656	0	T	121028656	C	T	121028656	3	4	88	1	0	0	0	0	1	0	0	0	15829	768	27	1	4462	1	TECTA	11	121028656	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28306	121028656	13977860	12320	20032											
TECTA	7007	broad.mit.edu	37	chr11	121031011	121031011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcagaacaaagtgtgCggtctctgtggcaacttcaa	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121031011C>T	ENST00000392793.1	+	15	5128	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	TECTA_ENST00000264037.2_Silent_p.C1619C			O75443	TECTA_HUMAN	tectorin alpha	1619	VWFD 4.		C -> S (in DFNA12; dbSNP:rs28939691).		cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAAAGTGTGCGGTCTCTGTG	0.507													False	0	False	11:121031011	0	T	121031011	C	T	121031011	2	4	88	1	0	0	0	0	0	0	0	1	15829	776	27	1		1	TECTA	11	121031011	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2355	121031011	13975505	12321	20033											
TECTA	7007	broad.mit.edu	37	chr11	121060582	121060582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggaggacggcaagagCtgcagaggtagacactcttc	14	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121060582C>A	ENST00000392793.1	+	23	6631	c.6360C>A	c.(6358-6360)agC>agA	p.S2120R	TECTA_ENST00000264037.2_Missense_Mutation_p.S2120R			O75443	TECTA_HUMAN	tectorin alpha	2120					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGGCAAGAGCTGCAGAGGTA	0.572													False	0	False	11:121060582	0	A	121060582	C	A	121060582	3	1	88	1	0	0	0	0	1	0	0	0	15829	796	28	3	6446	3	TECTA	11	121060582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29571	121060582	13945934	12322	20034											
SORL1	6653	broad.mit.edu	37	chr11	121383800	121383800	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcagcccagtttgtcacaaGacatcctattaatgtgagtg	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121383800G>T	ENST00000260197.7	+	7	1157	c.1028G>T	c.(1027-1029)aGa>aTa	p.R343I	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	343					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTGTCACAAGACATCCTATT	0.522													False	0	False	11:121383800	0	T	121383800	G	T	121383800	3	4	88	1	0	0	0	0	1	0	0	0	15014	942	33	3	1054	3	SORL1	11	121383800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	323218	121383800	13622716	12323	20035											
SORL1	6653	broad.mit.edu	37	chr11	121440888	121440888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacacctgtcttcgcaaccaGtatcgctgcagcaacgggaa	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121440888G>A	ENST00000260197.7	+	23	3375	c.3246G>A	c.(3244-3246)caG>caA	p.Q1082Q	SORL1_ENST00000525532.1_Silent_p.Q26Q	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1082	LDL-receptor class A 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCGCAACCAGTATCGCTGCA	0.483													False	0	False	11:121440888	0	A	121440888	G	A	121440888	2	1	88	1	0	0	0	0	0	0	0	1	15014	1020	36	2		2	SORL1	11	121440888	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57088	121440888	13565628	12324	20036											
SORL1	6653	broad.mit.edu	37	chr11	121459973	121459973	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgttccctctgtagcccaaGatcctgagttccacaaggta	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121459973G>T	ENST00000260197.7	+	29	4081	c.3952G>T	c.(3952-3954)Gat>Tat	p.D1318Y	SORL1_ENST00000534286.1_Missense_Mutation_p.D228Y|SORL1_ENST00000525532.1_Missense_Mutation_p.D262Y|SORL1_ENST00000532694.1_Missense_Mutation_p.D164Y	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1318					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGTAGCCCAAGATCCTGAGTT	0.517													False	0	False	11:121459973	0	T	121459973	G	T	121459973	3	4	88	1	0	0	0	0	1	0	0	0	15014	942	33	3	4066	3	SORL1	11	121459973	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19085	121459973	13546543	12325	20037											
UBASH3B	84959	broad.mit.edu	37	chr11	122669710	122669710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctattgctccccgtcccttcGctgcgttcagactgcacaca	7	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122669710G>A	ENST00000284273.5	+	10	1793	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	473	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCGTCCCTTCGCTGCGTTCAG	0.423													False	0	False	11:122669710	0	A	122669710	G	A	122669710	3	1	88	1	0	0	0	0	1	0	0	0	16924	1087	38	1	1456	1	UBASH3B	11	122669710	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1209737	122669710	12336806	12326	20038											
UBASH3B	84959	broad.mit.edu	37	chr11	122671895	122671895	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcactgtattttacccctaaGgtttacaacaagaaaatcac	4	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122671895G>T	ENST00000284273.5	+	11	1825		c.e11-1			NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B							cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TTACCCCTAAGGTTTACAACA	0.418													False	0	False	11:122671895	0	T	122671895	G	T	122671895	5	4	88	1	0	0	0	0	0	0	1	0	16924	1014	35	3	1492	3	UBASH3B	11	122671895	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2185	122671895	12334621	12327	20039											
UBASH3B	84959	broad.mit.edu	37	chr11	122677157	122677157	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaattagttgtttcagaatcCtatgatacttatatcagtag	6	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122677157C>A	ENST00000284273.5	+	12	2010	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	545	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TTTCAGAATCCTATGATACTT	0.299													False	0	False	11:122677157	0	A	122677157	C	A	122677157	2	1	88	1	0	0	0	0	0	0	0	1	16924	668	24	3		3	UBASH3B	11	122677157	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5262	122677157	12329359	12328	20040											
C11orf63	79864	broad.mit.edu	37	chr11	122774741	122774741	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgttgccggagtccacGgacagctctttagaaaatct	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122774741G>A	ENST00000227349.2	+	3	750	c.453G>A	c.(451-453)acG>acA	p.T151T	C11orf63_ENST00000531316.1_Silent_p.T151T|C11orf63_ENST00000307257.6_Silent_p.T151T	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	151										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CGGAGTCCACGGACAGCTCTT	0.532													False	0	False	11:122774741	0	A	122774741	G	A	122774741	2	1	88	1	0	0	0	0	0	0	0	1	1662	1103	39	1		1	C11orf63	11	122774741	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97584	122774741	12231775	12329	20041											
BSX	390259	broad.mit.edu	37	chr11	122848527	122848527	+	Missense_Mutation	SNP	C	C	A													gctttctggcccgtctggtgCtttgggttcgtcttggcttt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122848527C>A	ENST00000343035.2	-	3	580	c.532G>T	c.(532-534)Gca>Tca	p.A178S		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	178										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCGTCTGGTGCTTTGGGTTCG	0.602													False	0	True	11:122848527	0	A	122848527	C	A	122848527	3	1	88	1	0	0	0	0	1	0	0	0	1542	797	28	3	172	3	BSX	11	122848527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73786	122848527	12157989	12330	20042	226	2									
BSX	390259	broad.mit.edu	37	chr11	122848534	122848534	+	Silent	SNP	T	T	C													ggcccgtctggtgctttgggTtcgtcttggcttttccgcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122848534T>C	ENST00000343035.2	-	3	573	c.525A>G	c.(523-525)gaA>gaG	p.E175E		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	175										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GTGCTTTGGGTTCGTCTTGGC	0.592													False	0	True	11:122848534	0	C	122848534	T	C	122848534	2	2	88	1	0	0	0	0	0	0	0	1	1542	1722	60	4		4	BSX	11	122848534	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7	122848534	12157982	12331	20043	226	2									
HSPA8	3312	broad.mit.edu	37	chr11	122930388	122930388	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggaacaggtcagcattcaGttcttcaaatcgggcacggg	12	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122930388G>T	ENST00000534624.1	-	5	1189	c.913C>A	c.(913-915)Ctg>Atg	p.L305M	HSPA8_ENST00000533540.1_Missense_Mutation_p.L159M|HSPA8_ENST00000227378.3_Missense_Mutation_p.L305M|HSPA8_ENST00000526110.1_Missense_Mutation_p.L286M|HSPA8_ENST00000453788.2_Missense_Mutation_p.L305M|HSPA8_ENST00000532636.1_Missense_Mutation_p.L305M|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534319.1_Missense_Mutation_p.L69M	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	305	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCAGCATTCAGTTCTTCAAAT	0.498													False	0	False	11:122930388	0	T	122930388	G	T	122930388	3	4	88	1	0	0	0	0	1	0	0	0	7465	1020	36	3	1047	3	HSPA8	11	122930388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81854	122930388	12076128	12332	20044											
GRAMD1B	57476	broad.mit.edu	37	chr11	123481019	123481019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcgctacacgctcacccGtgtggctcggaacaagagcc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123481019G>A	ENST00000529750.1	+	13	1790	c.1463G>A	c.(1462-1464)cGt>cAt	p.R488H	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R488H|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.R179H|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R495H	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	488						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACGCTCACCCGTGTGGCTCGG	0.542													False	0	True	11:123481019	0	A	123481019	G	A	123481019	3	1	88	1	0	0	0	0	1	0	0	0	6795	1145	40	1	1513	1	GRAMD1B	11	123481019	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	550631	123481019	11525497	12333	20045											
ZNF202	7753	broad.mit.edu	37	chr11	123598907	123598907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagaactctttctgtgttgGgtccagatcactccactggt	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123598907G>A	ENST00000336139.4	-	6	1128	c.766C>T	c.(766-768)Cca>Tca	p.P256S	ZNF202_ENST00000529691.1_Missense_Mutation_p.P256S|ZNF202_ENST00000530393.1_Missense_Mutation_p.P256S			O95125	ZN202_HUMAN	zinc finger protein 202	256	KRAB.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TTCTGTGTTGGGTCCAGATCA	0.428													False	0	True	11:123598907	0	A	123598907	G	A	123598907	3	1	88	1	0	0	0	0	1	0	0	0	17846	1232	43	2	1192	2	ZNF202	11	123598907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117888	123598907	11407609	12334	20046											
ZNF202	7753	broad.mit.edu	37	chr11	123601239	123601239	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctgcaaaccctccaccaGcgtcactgcctcctcgccac	5	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123601239G>T	ENST00000336139.4	-	3	720	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	ZNF202_ENST00000529691.1_Missense_Mutation_p.L120M|ZNF202_ENST00000530393.1_Missense_Mutation_p.L120M			O95125	ZN202_HUMAN	zinc finger protein 202	120	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCCTCCACCAGCGTCACTGCC	0.582													False	0	False	11:123601239	0	T	123601239	G	T	123601239	3	4	88	1	0	0	0	0	1	0	0	0	17846	962	34	3	1612	3	ZNF202	11	123601239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2332	123601239	11405277	12335	20047											
OR6X1	390260	broad.mit.edu	37	chr11	123624503	123624503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggagacaactgtcaggtGcgaggcacaggtagagaaag	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624503G>A	ENST00000327930.2	-	1	750	c.724C>T	c.(724-726)Cac>Tac	p.H242Y		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACTGTCAGGTGCGAGGCACAG	0.458													False	0	False	11:123624503	0	A	123624503	G	A	123624503	3	1	88	1	0	0	0	0	1	0	0	0	11280	1319	46	2	216	2	OR6X1	11	123624503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23264	123624503	11382013	12336	20048											
OR6X1	390260	broad.mit.edu	37	chr11	123624731	123624731	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gataacattattgccacagaAtggcaactggatgagcagca	10	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624731A>C	ENST00000327930.2	-	1	522	c.496T>G	c.(496-498)Ttc>Gtc	p.F166V		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGCCACAGAATGGCAACTGG	0.512													False	0	False	11:123624731	0	C	123624731	A	C	123624731	3	2	88	1	0	0	0	0	1	0	0	0	11280	101	4	4	444	4	OR6X1	11	123624731	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	228	123624731	11381785	12337	20049											
OR6X1	390260	broad.mit.edu	37	chr11	123624777	123624777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaaaagacaatggtgaaGcccaccacccaggagctcag	10	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624777G>A	ENST00000327930.2	-	1	476	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAATGGTGAAGCCCACCACCC	0.517													False	0	True	11:123624777	0	A	123624777	G	A	123624777	2	1	88	1	0	0	0	0	0	0	0	1	11280	958	34	2		2	OR6X1	11	123624777	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46	123624777	11381739	12338	20050											
OR6M1	390261	broad.mit.edu	37	chr11	123676536	123676536	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agaggggcaatgtcacagaaGaaatgattaatttctttcct	9	6	2	4	rs141670886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123676536G>T	ENST00000309154.2	-	1	559	c.522C>A	c.(520-522)ttC>ttA	p.F174L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TGTCACAGAAGAAATGATTAA	0.463													False	0	True	11:123676536	0	T	123676536	G	T	123676536	3	4	88	1	0	0	0	0	1	0	0	0	11273	933	33	3	422	3	OR6M1	11	123676536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51759	123676536	11329980	12339	20051											
OR6M1	390261	broad.mit.edu	37	chr11	123676620	123676620	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacaggaaggctcccacccaGcatcccagaaccagcagaag	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123676620G>T	ENST00000309154.2	-	1	475	c.438C>A	c.(436-438)tgC>tgA	p.C146*		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTCCCACCCAGCATCCCAGAA	0.507													False	0	True	11:123676620	0	T	123676620	G	T	123676620	4	4	88	1	0	0	0	0	0	1	0	0	11273	963	34	3	506	3	OR6M1	11	123676620	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84	123676620	11329896	12340	20052											
TMEM225	338661	broad.mit.edu	37	chr11	123753963	123753963	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaatgaaatatcttcgataGaattctcagattccttacat	5	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123753963G>A	ENST00000375026.2	-	4	776	c.560C>T	c.(559-561)tCt>tTt	p.S187F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	187						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATCTTCGATAGAATTCTCAGA	0.433													False	0	False	11:123753963	0	A	123753963	G	A	123753963	3	1	88	1	0	0	0	0	1	0	0	0	16229	942	33	2	121	2	TMEM225	11	123753963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77343	123753963	11252553	12341	20053											
TMEM225	338661	broad.mit.edu	37	chr11	123754818	123754818	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacatttaagtaagcagTatacatgatccaggtgatcc	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123754818T>G	ENST00000375026.2	-	3	643	c.427A>C	c.(427-429)Act>Cct	p.T143P		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	143						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AAGTAAGCAGTATACATGATC	0.453													False	0	False	11:123754818	0	G	123754818	T	G	123754818	3	3	88	1	0	0	0	0	1	0	0	0	16229	1638	57	4	258	4	TMEM225	11	123754818	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	855	123754818	11251698	12342	20054											
TMEM225	338661	broad.mit.edu	37	chr11	123754867	123754867	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagaagtgcatggattgaccTtgcttcagcttattgtgata	11	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123754867T>G	ENST00000375026.2	-	3	594	c.378A>C	c.(376-378)caA>caC	p.Q126H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	126						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TGGATTGACCTTGCTTCAGCT	0.373													False	0	False	11:123754867	0	G	123754867	T	G	123754867	3	3	88	1	0	0	0	0	1	0	0	0	16229	1606	56	4	307	4	TMEM225	11	123754867	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49	123754867	11251649	12343	20055											
OR8D4	338662	broad.mit.edu	37	chr11	123777647	123777647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	actcaggttgtctttctgtgGatcaaacatcattaaacatt	6	8	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123777647G>T	ENST00000321355.2	+	1	539	c.509G>T	c.(508-510)gGa>gTa	p.G170V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTTTCTGTGGATCAAACATC	0.418													False	0	False	11:123777647	0	T	123777647	G	T	123777647	3	4	88	1	0	0	0	0	1	0	0	0	11301	1174	41	3	511	3	OR8D4	11	123777647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22780	123777647	11228869	12344	20056											
OR4D5	219875	broad.mit.edu	37	chr11	123811251	123811251	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaaaaaggaccctattGgtcccctggagcacagaccc	12	12	0	1	rs143337717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123811251G>T	ENST00000307033.2	+	1	1002	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACCCTATTGGTCCCCTGGA	0.502													False	0	False	11:123811251	0	T	123811251	G	T	123811251	3	4	88	1	0	0	0	0	1	0	0	0	11125	1348	47	3	930	3	OR4D5	11	123811251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33604	123811251	11195265	12345	20057											
OR6T1	219874	broad.mit.edu	37	chr11	123813879	123813879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggccctgagaacagtggCaagaatgcaggcataggaaa	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123813879C>T	ENST00000321252.2	-	1	701	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A223S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGAACAGTGGCAAGAATGCAG	0.537													False	0	False	11:123813879	0	T	123813879	C	T	123813879	3	4	88	1	0	0	0	0	1	0	0	0	11278	710	25	2	307	2	OR6T1	11	123813879	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2628	123813879	11192637	12346	20058											
OR10S1	219873	broad.mit.edu	37	chr11	123847714	123847714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagatgtaggaaataaCgatgaggatgaggcagcctg	15	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123847714C>T	ENST00000531945.1	-	1	774	c.685G>A	c.(685-687)Gtt>Att	p.V229I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V229I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAGGAAATAACGATGAGGATG	0.592													False	0	False	11:123847714	0	T	123847714	C	T	123847714	3	4	88	1	0	0	0	0	1	0	0	0	10986	536	19	1	314	1	OR10S1	11	123847714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33835	123847714	11158802	12347	20059											
OR10S1	219873	broad.mit.edu	37	chr11	123847863	123847863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcccacagtagagcaggCggaaggtgagggaggtgtgg	20	6	0	2	rs141270826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123847863C>T	ENST00000531945.1	-	1	625	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTAGAGCAGGCGGAAGGTGAG	0.552													False	0	False	11:123847863	0	T	123847863	C	T	123847863	3	4	88	1	0	0	0	0	1	0	0	0	10986	768	27	1	463	1	OR10S1	11	123847863	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149	123847863	11158653	12348	20060											
OR10G9	219870	broad.mit.edu	37	chr11	123894465	123894465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgcatcgtggtcctttGcttttttgttccctgtgttt	8	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123894465G>A	ENST00000375024.1	+	1	746	c.746G>A	c.(745-747)tGc>tAc	p.C249Y		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGGTCCTTTGCTTTTTTGTT	0.532													False	0	True	11:123894465	0	A	123894465	G	A	123894465	3	1	88	1	0	0	0	0	1	0	0	0	10972	1319	46	2	748	2	OR10G9	11	123894465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46602	123894465	11112051	12349	20061											
OR10G8	219869	broad.mit.edu	37	chr11	123900354	123900354	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaacgccagcctactgacaGcgttcatcctcatgggcctt	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123900354G>T	ENST00000431524.1	+	1	58	c.25G>T	c.(25-27)Gcg>Tcg	p.A9S		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCTACTGACAGCGTTCATCCT	0.542													False	0	False	11:123900354	0	T	123900354	G	T	123900354	3	4	88	1	0	0	0	0	1	0	0	0	10971	971	34	3	27	3	OR10G8	11	123900354	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5889	123900354	11106162	12350	20062											
OR10G7	390265	broad.mit.edu	37	chr11	123909487	123909487	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcagcattttgggcaccgtGacagtggagaaccacatgtc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123909487G>A	ENST00000330487.5	-	1	230	c.222C>T	c.(220-222)gtC>gtT	p.V74V		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGGCACCGTGACAGTGGAGA	0.537													False	0	False	11:123909487	0	A	123909487	G	A	123909487	2	1	88	1	0	0	0	0	0	0	0	1	10970	1277	45	2		2	OR10G7	11	123909487	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9133	123909487	11097029	12351	20063											
VWA5A	4013	broad.mit.edu	37	chr11	123993815	123993815	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtagccaggatacatctcaGctgcgaatacaggcagccaa	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123993815G>T	ENST00000456829.2	+	8	1160	c.909G>T	c.(907-909)caG>caT	p.Q303H	VWA5A_ENST00000392748.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000449321.1_Missense_Mutation_p.Q303H|VWA5A_ENST00000360334.4_Missense_Mutation_p.Q303H|VWA5A_ENST00000361352.5_Missense_Mutation_p.Q303H|VWA5A_ENST00000392744.4_Missense_Mutation_p.Q319H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	303	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATACATCTCAGCTGCGAATAC	0.473													False	0	False	11:123993815	0	T	123993815	G	T	123993815	3	4	88	1	0	0	0	0	1	0	0	0	17326	962	34	3	931	3	VWA5A	11	123993815	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84328	123993815	11012701	12352	20064											
OR8G5	219865	broad.mit.edu	37	chr11	124135190	124135190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggctgcaatggcatatgaCggctacgtggccatctgtag	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124135190C>T	ENST00000524943.2	+	1	468	c.468C>T	c.(466-468)gaC>gaT	p.D156D	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1			olfactory receptor, family 8, subfamily G, member 5														Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		TGGCATATGACGGCTACGTGG	0.443													False	0	False	11:124135190	0	T	124135190	C	T	124135190	2	4	88	1	0	0	0	0	0	0	0	1	11304	535	19	1		1	OR8G5	11	124135190	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141375	124135190	10871326	12353	20065											
OR8D2	283160	broad.mit.edu	37	chr11	124189745	124189745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataacggtcatattccatggCtgtcagaaggtagccttctg	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124189745C>A	ENST00000357438.2	-	1	439	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TATTCCATGGCTGTCAGAAGG	0.408													False	0	False	11:124189745	0	A	124189745	C	A	124189745	3	1	88	1	0	0	0	0	1	0	0	0	11300	797	28	3	589	3	OR8D2	11	124189745	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54555	124189745	10816771	12354	20066											
OR8D2	283160	broad.mit.edu	37	chr11	124190029	124190029	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagtggcagttgaagtTctgggcgttgtgtcaagcct	16	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124190029T>C	ENST00000357438.2	-	1	155	c.65A>G	c.(64-66)gAa>gGa	p.E22G		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CAGTTGAAGTTCTGGGCGTTG	0.438													False	0	False	11:124190029	0	C	124190029	T	C	124190029	3	2	88	1	0	0	0	0	1	0	0	0	11300	1783	62	4	873	4	OR8D2	11	124190029	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	284	124190029	10816487	12355	20067											
OR8B8	26493	broad.mit.edu	37	chr11	124310687	124310687	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagaagaagagctgagTcatacaccctgcgtaggaga	12	7	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124310687T>G	ENST00000328064.2	-	1	367	c.295A>C	c.(295-297)Act>Cct	p.T99P		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAGAGCTGAGTCATACACCCT	0.438													False	0	False	11:124310687	0	G	124310687	T	G	124310687	3	3	88	1	0	0	0	0	1	0	0	0	11298	1667	58	4	643	4	OR8B8	11	124310687	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	120658	124310687	10695829	12356	20068											
OR8B12	219858	broad.mit.edu	37	chr11	124413189	124413189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttacagatggccacgtagCggtcatacgccatcgctgac	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124413189C>T	ENST00000306842.2	-	1	386	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGCCACGTAGCGGTCATACGC	0.502													False	0	False	11:124413189	0	T	124413189	C	T	124413189	3	4	88	1	0	0	0	0	1	0	0	0	11294	768	27	1	572	1	OR8B12	11	124413189	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102502	124413189	10593327	12357	20069											
SIAE	54414	broad.mit.edu	37	chr11	124509617	124509617	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcatacctgccaaaaggCgagtctctatcacagagatc	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124509617C>T	ENST00000263593.3	-	8	1285	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S	SIAE_ENST00000545756.1_Silent_p.S336S			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	371						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGCCAAAAGGCGAGTCTCTAT	0.468													False	0	False	11:124509617	0	T	124509617	C	T	124509617	2	4	88	1	0	0	0	0	0	0	0	1	14379	755	27	1		1	SIAE	11	124509617	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96428	124509617	10496899	12358	20070											
SPA17	53340	broad.mit.edu	37	chr11	124545184	124545184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgattccattctccaacacCcactaccgaattccacaagg	4	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124545184C>T	ENST00000532692.1	+	1	1445	c.24C>T	c.(22-24)acC>acT	p.T8T	SIAE_ENST00000525730.1_5'UTR|SPA17_ENST00000227135.2_Silent_p.T8T			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	8					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TCTCCAACACCCACTACCGAA	0.418													False	0	True	11:124545184	0	T	124545184	C	T	124545184	2	4	88	1	0	0	0	0	0	0	0	1	15051	610	22	2		2	SPA17	11	124545184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35567	124545184	10461332	12359	20071											
VSIG2	23584	broad.mit.edu	37	chr11	124618371	124618371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagaacgcagcaactgacaGcaacagcacgcccaggagca	11	14	0	2	rs140273632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124618371G>T	ENST00000403470.1	-	6	821	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	VSIG2_ENST00000326621.5_Missense_Mutation_p.L256M			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	256						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GCAACTGACAGCAACAGCACG	0.582													False	0	True	11:124618371	0	T	124618371	G	T	124618371	3	4	88	1	0	0	0	0	1	0	0	0	17308	962	34	3	225	3	VSIG2	11	124618371	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73187	124618371	10388145	12360	20072											
ROBO3	64221	broad.mit.edu	37	chr11	124738946	124738946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgggcgccgcgcgcggccgGacgaaggtgtctacacttgc	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124738946G>A	ENST00000397801.1	+	2	601	c.409G>A	c.(409-411)Gac>Aac	p.D137N	ROBO3_ENST00000538940.1_Missense_Mutation_p.D115N	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	137	Ig-like C2-type 1.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGCGCGGCCGGACGAAGGTGT	0.687													False	0	False	11:124738946	0	A	124738946	G	A	124738946	3	1	88	1	0	0	0	0	1	0	0	0	13594	1174	41	2	415	2	ROBO3	11	124738946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120575	124738946	10267570	12361	20073											
ROBO3	64221	broad.mit.edu	37	chr11	124740119	124740119	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcctggctgatgcccctgtGactttcctatgtgaggtgaa	12	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124740119G>A	ENST00000397801.1	+	5	1017	c.825G>A	c.(823-825)gtG>gtA	p.V275V	ROBO3_ENST00000538940.1_Silent_p.V253V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	275	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ATGCCCCTGTGACTTTCCTAT	0.602													False	0	False	11:124740119	0	A	124740119	G	A	124740119	2	1	88	1	0	0	0	0	0	0	0	1	13594	1277	45	2		2	ROBO3	11	124740119	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1173	124740119	10266397	12362	20074											
ROBO3	64221	broad.mit.edu	37	chr11	124742317	124742317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacttcagccgacggggcGcttctcagtgtctccaagag	12	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124742317G>A	ENST00000397801.1	+	8	1391	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R378H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	400	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCGACGGGGCGCTTCTCAGTG	0.612													False	0	False	11:124742317	0	A	124742317	G	A	124742317	3	1	88	1	0	0	0	0	1	0	0	0	13594	1087	38	1	1229	1	ROBO3	11	124742317	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2198	124742317	10264199	12363	20075											
ROBO3	64221	broad.mit.edu	37	chr11	124742334	124742334	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcttctcagtgtctccaAgaggccaacttaacatcacc	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124742334A>C	ENST00000397801.1	+	8	1408	c.1216A>C	c.(1216-1218)Aga>Cga	p.R406R	ROBO3_ENST00000538940.1_Silent_p.R384R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	406	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGTGTCTCCAAGAGGCCAACT	0.612													False	0	False	11:124742334	0	C	124742334	A	C	124742334	2	2	88	1	0	0	0	0	0	0	0	1	13594	64	3	4		4	ROBO3	11	124742334	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17	124742334	10264182	12364	20076											
ROBO4	54538	broad.mit.edu	37	chr11	124765426	124765426	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccagaggatggtctcactttGaactcgtagtcttggcccca	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765426G>A	ENST00000306534.3	-	6	1448	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ROBO4_ENST00000533054.1_Silent_p.F176F	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	321	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTCTCACTTTGAACTCGTAGT	0.657													False	0	True	11:124765426	0	A	124765426	G	A	124765426	2	1	88	1	0	0	0	0	0	0	0	1	13595	1281	45	2		2	ROBO4	11	124765426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23092	124765426	10241090	12365	20077											
ROBO4	54538	broad.mit.edu	37	chr11	124765468	124765468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcctccaagctctgcGctctgccagccggccagcag	13	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765468G>A	ENST00000306534.3	-	6	1406	c.921C>T	c.(919-921)agC>agT	p.S307S	ROBO4_ENST00000533054.1_Silent_p.S162S	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	307	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity	p.S307S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CAAGCTCTGCGCTCTGCCAGC	0.657													False	0	True	11:124765468	0	A	124765468	G	A	124765468	2	1	88	1	0	0	0	0	0	0	0	1	13595	1078	38	1		1	ROBO4	11	124765468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	124765468	10241048	12366	20078											
ROBO4	54538	broad.mit.edu	37	chr11	124765734	124765734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccctctgcaggatccgGgttcagcagtgtcacatttt	13	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765734G>A	ENST00000306534.3	-	5	1239	c.754C>T	c.(754-756)Ccg>Tcg	p.P252S	ROBO4_ENST00000533054.1_Missense_Mutation_p.P107S|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	252	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCAGGATCCGGGTTCAGCAGT	0.597													False	0	True	11:124765734	0	A	124765734	G	A	124765734	3	1	88	1	0	0	0	0	1	0	0	0	13595	1232	43	2	2325	2	ROBO4	11	124765734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266	124765734	10240782	12367	20079											
HEPACAM	220296	broad.mit.edu	37	chr11	124793679	124793679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgatggggttctccaCcatgcagctgtacaggtcgt	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124793679C>T	ENST00000298251.4	-	3	1060	c.655G>A	c.(655-657)Gtg>Atg	p.V219M		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	219	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGGTTCTCCACCATGCAGCTG	0.577													False	0	False	11:124793679	0	T	124793679	C	T	124793679	3	4	88	1	0	0	0	0	1	0	0	0	7099	507	18	2	615	2	HEPACAM	11	124793679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27945	124793679	10212837	12368	20080											
CCDC15	80071	broad.mit.edu	37	chr11	124845009	124845009	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcttagtgaaactatgaaAcaggcacgtcaccggctagc	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124845009A>C	ENST00000529051.1	+	5	793	c.534A>C	c.(532-534)aaA>aaC	p.K178N	CCDC15_ENST00000344762.5_Missense_Mutation_p.K178N			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	178						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAACTATGAAACAGGCACGTC	0.408													False	0	True	11:124845009	0	C	124845009	A	C	124845009	3	2	88	1	0	0	0	0	1	0	0	0	2804	40	2	4	548	4	CCDC15	11	124845009	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51330	124845009	10161507	12369	20081											
CCDC15	80071	broad.mit.edu	37	chr11	124857477	124857477	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaccaggacttcctacccaGagaccagcatgttctccaca	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124857477G>A	ENST00000529051.1	+	8	1614	c.1355G>A	c.(1354-1356)aGa>aAa	p.R452K	CCDC15_ENST00000344762.5_Missense_Mutation_p.R452K			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	452						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TTCCTACCCAGAGACCAGCAT	0.408													False	0	False	11:124857477	0	A	124857477	G	A	124857477	3	1	88	1	0	0	0	0	1	0	0	0	2804	942	33	2	1381	2	CCDC15	11	124857477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12468	124857477	10149039	12370	20082											
CCDC15	80071	broad.mit.edu	37	chr11	124875078	124875078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaagttaaagaacaacaaaGgcaaaaagaacaaaagaaga	7	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124875078G>T	ENST00000529051.1	+	13	2640	c.2381G>T	c.(2380-2382)aGg>aTg	p.R794M	CCDC15_ENST00000344762.5_Missense_Mutation_p.R794M			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	794						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GAACAACAAAGGCAAAAAGAA	0.323													False	0	True	11:124875078	0	T	124875078	G	T	124875078	3	4	88	1	0	0	0	0	1	0	0	0	2804	1000	35	3	2427	3	CCDC15	11	124875078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17601	124875078	10131438	12371	20083											
SLC37A2	219855	broad.mit.edu	37	chr11	124951718	124951718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctctatcagggagagCggccttgagactgtggccaa	13	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124951718C>T	ENST00000403796.2	+	9	1102	c.801C>T	c.(799-801)agC>agT	p.S267S	SLC37A2_ENST00000407458.1_Silent_p.S267S|SLC37A2_ENST00000308074.4_Silent_p.S267S|SLC37A2_ENST00000298280.5_Silent_p.S267S	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	267					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCAGGGAGAGCGGCCTTGAGA	0.597													False	0	False	11:124951718	0	T	124951718	C	T	124951718	2	4	88	1	0	0	0	0	0	0	0	1	14678	767	27	1		1	SLC37A2	11	124951718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76640	124951718	10054798	12372	20084											
PKNOX2	63876	broad.mit.edu	37	chr11	125255507	125255507	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaacaggccacccagggCtctgagtgcatcacctccgc	11	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125255507C>A	ENST00000298282.9	+	6	559	c.288C>A	c.(286-288)ggC>ggA	p.G96G	PKNOX2_ENST00000542175.1_Silent_p.G32G|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	96						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCACCCAGGGCTCTGAGTGCA	0.552													False	0	True	11:125255507	0	A	125255507	C	A	125255507	2	1	88	1	0	0	0	0	0	0	0	1	12052	784	28	3		3	PKNOX2	11	125255507	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	303789	125255507	9751009	12373	20085											
PKNOX2	63876	broad.mit.edu	37	chr11	125267823	125267823	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgctggagctggagaaagtCaatgaactctgcaaggactt	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125267823C>T	ENST00000298282.9	+	7	724	c.453C>T	c.(451-453)gtC>gtT	p.V151V	PKNOX2_ENST00000542175.1_Silent_p.V87V|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	151						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TGGAGAAAGTCAATGAACTCT	0.522													False	0	False	11:125267823	0	T	125267823	C	T	125267823	2	4	88	1	0	0	0	0	0	0	0	1	12052	813	29	2		2	PKNOX2	11	125267823	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12316	125267823	9738693	12374	20086											
PKNOX2	63876	broad.mit.edu	37	chr11	125301267	125301267	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcgacctgggcttggaAcacagtgactccctggagta	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125301267A>G	ENST00000298282.9	+	13	1669	c.1398A>G	c.(1396-1398)gaA>gaG	p.E466E	PKNOX2_ENST00000542175.1_Silent_p.E402E|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	466						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TGGGCTTGGAACACAGTGACT	0.607													False	0	False	11:125301267	0	G	125301267	A	G	125301267	2	3	88	1	0	0	0	0	0	0	0	1	12052	40	2	4		4	PKNOX2	11	125301267	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33444	125301267	9705249	12375	20087											
EI24	9538	broad.mit.edu	37	chr11	125445239	125445239	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaagagagaggagcagcgTcgaagaagggcaagtagtgt	16	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125445239T>C	ENST00000278903.6	+	3	365	c.123T>C	c.(121-123)cgT>cgC	p.R41R	EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Silent_p.R41R|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	41	Poly-Arg.				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AGGAGCAGCGTCGAAGAAGGG	0.463													False	0	False	11:125445239	0	C	125445239	T	C	125445239	2	2	88	1	0	0	0	0	0	0	0	1	5015	1654	58	4		4	EI24	11	125445239	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	143972	125445239	9561277	12376	20088											
EI24	9538	broad.mit.edu	37	chr11	125451139	125451139	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accagcggttgtctaacataGaaaggaattggccttactac	9	9	1	1	rs3017282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125451139G>T	ENST00000278903.6	+	9	948	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Intron|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	236					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GTCTAACATAGAAAGGAATTG	0.368													False	0	True	11:125451139	0	T	125451139	G	T	125451139	4	4	88	1	0	0	0	0	0	1	0	0	5015	943	33	3	736	3	EI24	11	125451139	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5900	125451139	9555377	12377	20089											
ACRV1	56	broad.mit.edu	37	chr11	125542528	125542528	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgatttcgacagcatataAtttgcatcctcgttccatgg	7	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125542528A>C	ENST00000533904.1	-	4	1100	c.758T>G	c.(757-759)aTt>aGt	p.I253S	ACRV1_ENST00000527795.1_Missense_Mutation_p.I183S|ACRV1_ENST00000353070.1_Missense_Mutation_p.I69S|ACRV1_ENST00000530048.1_Missense_Mutation_p.I198S|ACRV1_ENST00000425431.1_Missense_Mutation_p.I109S|ACRV1_ENST00000345274.1_Missense_Mutation_p.I143S|ACRV1_ENST00000348856.3_Missense_Mutation_p.I153S|CHEK1_ENST00000428830.2_Intron|ACRV1_ENST00000453509.1_Missense_Mutation_p.I164S|ACRV1_ENST00000445562.1_Missense_Mutation_p.I158S|ACRV1_ENST00000315608.3_Missense_Mutation_p.I234S			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	253					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		ACAGCATATAATTTGCATCCT	0.443													False	0	True	11:125542528	0	C	125542528	A	C	125542528	3	2	88	1	0	0	0	0	1	0	0	0	172	101	4	4	43	4	ACRV1	11	125542528	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91389	125542528	9463988	12378	20090											
ACRV1	56	broad.mit.edu	37	chr11	125546291	125546291	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacatgcactgctgggaattCtgagtgatgcaggttccctc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125546291C>A	ENST00000533904.1	-	3	978	c.636G>T	c.(634-636)caG>caT	p.Q212H	ACRV1_ENST00000527795.1_Missense_Mutation_p.Q142H|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000530048.1_Missense_Mutation_p.Q157H|ACRV1_ENST00000425431.1_Missense_Mutation_p.Q68H|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000348856.3_Missense_Mutation_p.Q112H|ACRV1_ENST00000453509.1_Missense_Mutation_p.Q123H|ACRV1_ENST00000445562.1_Missense_Mutation_p.Q117H|ACRV1_ENST00000315608.3_Missense_Mutation_p.Q193H			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	212					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		GCTGGGAATTCTGAGTGATGC	0.398													False	0	False	11:125546291	0	A	125546291	C	A	125546291	3	1	88	1	0	0	0	0	1	0	0	0	172	912	32	3	169	3	ACRV1	11	125546291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3763	125546291	9460225	12379	20091											
PUS3	83480	broad.mit.edu	37	chr11	125765172	125765172	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcagcagctcatcaataatCtctggcttctccattccttg	5	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125765172C>A	ENST00000227474.3	-	3	988	c.891G>T	c.(889-891)gaG>gaT	p.E297D	HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.E297D|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	297						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		CATCAATAATCTCTGGCTTCT	0.403													False	0	False	11:125765172	0	A	125765172	C	A	125765172	3	1	88	1	0	0	0	0	1	0	0	0	12911	912	32	3	562	3	PUS3	11	125765172	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218881	125765172	9241344	12380	20092											
DDX25	29118	broad.mit.edu	37	chr11	125788671	125788671	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggttctcataacaactaAtgtttgtgcccgaggtgtgt	11	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125788671A>C	ENST00000263576.6	+	10	1342	c.1187A>C	c.(1186-1188)aAt>aCt	p.N396T	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	396	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		ATAACAACTAATGTTTGTGCC	0.448													False	0	False	11:125788671	0	C	125788671	A	C	125788671	3	2	88	1	0	0	0	0	1	0	0	0	4377	101	4	4	1225	4	DDX25	11	125788671	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23499	125788671	9217845	12381	20093											
CDON	50937	broad.mit.edu	37	chr11	125853983	125853983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaagctccaggaacacGtttcactagttgaaatataa	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125853983G>A	ENST00000392693.3	-	16	2906	c.2779C>T	c.(2779-2781)Cgt>Tgt	p.R927C	CDON_ENST00000531738.1_Missense_Mutation_p.R304C|CDON_ENST00000263577.7_Missense_Mutation_p.R927C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	927					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCAGGAACACGTTTCACTAGT	0.453													False	0	True	11:125853983	0	A	125853983	G	A	125853983	3	1	88	1	0	0	0	0	1	0	0	0	3193	1145	40	1	1035	1	CDON	11	125853983	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65312	125853983	9152533	12382	20094											
RPUSD4	84881	broad.mit.edu	37	chr11	126079531	126079531	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgtccagccggtggcacaGatgcaagggctctgccttgt	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126079531G>A	ENST00000298317.4	-	3	495	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	RPUSD4_ENST00000534393.1_5'UTR|RPUSD4_ENST00000533628.1_Silent_p.L148L	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	148					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CGGTGGCACAGATGCAAGGGC	0.522													False	0	False	11:126079531	0	A	126079531	G	A	126079531	2	1	88	1	0	0	0	0	0	0	0	1	13748	933	33	2		2	RPUSD4	11	126079531	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225548	126079531	8926985	12383	20095											
SRPR	6734	broad.mit.edu	37	chr11	126133894	126133894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccggtgcccacaaagaCgatgggtttgcttgtgatgt	14	9	0	2	rs149620514	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126133894C>T	ENST00000332118.6	-	14	1988	c.1834G>A	c.(1834-1836)Gtc>Atc	p.V612I	SRPR_ENST00000532259.1_Missense_Mutation_p.V584I	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	612					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCCACAAAGACGATGGGTTTG	0.537													False	0	False	11:126133894	0	T	126133894	C	T	126133894	3	4	88	1	0	0	0	0	1	0	0	0	15244	536	19	1	86	1	SRPR	11	126133894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54363	126133894	8872622	12384	20096											
DCPS	28960	broad.mit.edu	37	chr11	126213270	126213270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctacgcgaccttactccGgagcacttgccgctgctcag	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126213270G>A	ENST00000263579.4	+	5	1034	c.705G>A	c.(703-705)ccG>ccA	p.P235P	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	235					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		ACCTTACTCCGGAGCACTTGC	0.572													False	0	False	11:126213270	0	A	126213270	G	A	126213270	2	1	88	1	0	0	0	0	0	0	0	1	4326	1103	39	1		1	DCPS	11	126213270	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79376	126213270	8793246	12385	20097											
DCPS	28960	broad.mit.edu	37	chr11	126215338	126215338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcatgtgcacttcaccGccctgggcttcgaggccccc	10	18	1	0	rs35029167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126215338G>A	ENST00000263579.4	+	6	1173	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	282					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		GCACTTCACCGCCCTGGGCTT	0.632													False	0	True	11:126215338	0	A	126215338	G	A	126215338	3	1	88	1	0	0	0	0	1	0	0	0	4326	1087	38	1	866	1	DCPS	11	126215338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2068	126215338	8791178	12386	20098											
ST3GAL4	6484	broad.mit.edu	37	chr11	126278040	126278040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggaacgggcaccggctgCggaacagctcactgggagat	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126278040C>T	ENST00000526727.1	+	6	762	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R125W|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R130W|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R136W|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R119W|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R126W|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R130W|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R126W|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R129W			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	130					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GCACCGGCTGCGGAACAGCTC	0.577													False	0	False	11:126278040	0	T	126278040	C	T	126278040	3	4	88	1	0	0	0	0	1	0	0	0	15299	759	27	1	398	1	ST3GAL4	11	126278040	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62702	126278040	8728476	12387	20099											
ST3GAL4	6484	broad.mit.edu	37	chr11	126283899	126283899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggccctggccattaagcGgatgctggagatgggagcta	16	8	0	2	rs143689441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126283899G>A	ENST00000526727.1	+	10	1333	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	ST3GAL4_ENST00000444328.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.R315Q|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.R326Q|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.R309Q|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.R320Q|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.R316Q|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.R319Q			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	320					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GCCATTAAGCGGATGCTGGAG	0.572													False	0	False	11:126283899	0	A	126283899	G	A	126283899	3	1	88	1	0	0	0	0	1	0	0	0	15299	1116	39	1	985	1	ST3GAL4	11	126283899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5859	126283899	8722617	12388	20100											
KIRREL3	84623	broad.mit.edu	37	chr11	126294626	126294626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgctgctgctgacgctgCtgtcacactgcgtgtccagg	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126294626C>T	ENST00000525144.2	-	17	2435	c.2186G>A	c.(2185-2187)aGc>aAc	p.S729N	KIRREL3_ENST00000416561.2_Missense_Mutation_p.S196N|KIRREL3_ENST00000529097.2_Missense_Mutation_p.S717N	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	729	Ser-rich.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCTGACGCTGCTGTCACACTG	0.622													False	0	False	11:126294626	0	T	126294626	C	T	126294626	3	4	88	1	0	0	0	0	1	0	0	0	8376	797	28	2	154	2	KIRREL3	11	126294626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10727	126294626	8711890	12389	20101											
KIRREL3	84623	broad.mit.edu	37	chr11	126294877	126294877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtcggggttgagtggtgCtctttgaaggtgttgacgct	17	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126294877C>T	ENST00000525144.2	-	17	2184	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	KIRREL3_ENST00000416561.2_Silent_p.E112E|KIRREL3_ENST00000529097.2_Silent_p.E633E	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	645					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTGAGTGGTGCTCTTTGAAGG	0.617													False	0	False	11:126294877	0	T	126294877	C	T	126294877	2	4	88	1	0	0	0	0	0	0	0	1	8376	796	28	2		2	KIRREL3	11	126294877	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	251	126294877	8711639	12390	20102											
KIRREL3	84623	broad.mit.edu	37	chr11	126316668	126316668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaccactccggagccccGcttcatccagacgatggtca	8	18	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126316668G>A	ENST00000525144.2	-	9	1360	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	KIRREL3_ENST00000525704.2_Missense_Mutation_p.R371W|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R371W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	371	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCGGAGCCCCGCTTCATCCAG	0.647													False	0	True	11:126316668	0	A	126316668	G	A	126316668	3	1	88	1	0	0	0	0	1	0	0	0	8376	1086	38	1	1368	1	KIRREL3	11	126316668	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21791	126316668	8689848	12391	20103											
FLI1	2313	broad.mit.edu	37	chr11	128680721	128680721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaccagcagaaggtgaaCtttgtccctccccatccatc	7	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128680721C>T	ENST00000527786.2	+	9	1686	c.1197C>T	c.(1195-1197)aaC>aaT	p.N399N	FLI1_ENST00000281428.8_Silent_p.N333N|FLI1_ENST00000534087.2_Silent_p.N366N|FLI1_ENST00000344954.6_Silent_p.N366N|FLI1_ENST00000525560.1_Silent_p.N206N	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGAAGGTGAACTTTGTCCCTC	0.572			T	EWSR1	Ewing sarcoma								False	0	True	11:128680721	0	T	128680721	C	T	128680721	2	4	88	1	0	0	0	0	0	0	0	1	5964	564	20	2		2	FLI1	11	128680721	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2364053	128680721	6325795	12392	20104											
KCNJ1	3758	broad.mit.edu	37	chr11	128709054	128709054	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catctgtttcattgacttctGacaagatgaagttggggttg	11	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128709054G>A	ENST00000392665.2	-	2	1229	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	KCNJ1_ENST00000324036.3_Missense_Mutation_p.S362L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.S362L|KCNJ1_ENST00000440599.2_Missense_Mutation_p.S362L|KCNJ1_ENST00000392664.2_Missense_Mutation_p.S381L	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	381					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ATTGACTTCTGACAAGATGAA	0.433													False	0	False	11:128709054	0	A	128709054	G	A	128709054	3	1	88	1	0	0	0	0	1	0	0	0	8093	1294	45	2	37	2	KCNJ1	11	128709054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28333	128709054	6297462	12393	20105											
KCNJ5	3762	broad.mit.edu	37	chr11	128781835	128781835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctcatgttccgggtgggcGacctccgcaactcccacatc	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128781835G>A	ENST00000529694.1	+	2	1043	c.667G>A	c.(667-669)Gac>Aac	p.D223N	KCNJ5_ENST00000338350.4_Missense_Mutation_p.D223N|KCNJ5_ENST00000533599.1_Missense_Mutation_p.D223N	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	223					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CCGGGTGGGCGACCTCCGCAA	0.597													False	0	False	11:128781835	0	A	128781835	G	A	128781835	3	1	88	1	0	0	0	0	1	0	0	0	8104	1058	37	1	669	1	KCNJ5	11	128781835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72781	128781835	6224681	12394	20106											
KCNJ5	3762	broad.mit.edu	37	chr11	128786590	128786590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagatgagcccaagggGctgggtgggtccagggaggc	20	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128786590G>A	ENST00000529694.1	+	3	1600	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	KCNJ5_ENST00000338350.4_Silent_p.G408G|KCNJ5_ENST00000533599.1_Silent_p.G408G	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	408					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AGCCCAAGGGGCTGGGTGGGT	0.647													False	0	True	11:128786590	0	A	128786590	G	A	128786590	2	1	88	1	0	0	0	0	0	0	0	1	8104	1190	42	2		2	KCNJ5	11	128786590	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4755	128786590	6219926	12395	20107											
TP53AIP1	63970	broad.mit.edu	37	chr11	128807455	128807455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctctgaggacccagatgCtgtcactgggtcctggtgag	14	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128807455C>T	ENST00000602346.1	-	2	468	c.259G>A	c.(259-261)Gca>Aca	p.A87T	TP53AIP1_ENST00000531399.1_Intron|TP53AIP1_ENST00000530777.1_Intron|TP53AIP1_ENST00000458238.2_Intron	NM_001251964.1	NP_001238893.1	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1	0					apoptosis	mitochondrion				large_intestine(1)|lung(1)|skin(1)	3						GACCCAGATGCTGTCACTGGG	0.582													False	0	False	11:128807455	0	T	128807455	C	T	128807455	3	4	88	1	0	0	0	0	1	0	0	0	16465	797	28	2	71	2	TP53AIP1	11	128807455	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20865	128807455	6199061	12396	20108											
ARHGAP32	9743	broad.mit.edu	37	chr11	128839218	128839218	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgcctaacccagggtcGctccatctctttggagagcc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128839218G>A	ENST00000310343.9	-	22	5847	c.5848C>T	c.(5848-5850)Cga>Tga	p.R1950*	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.R1601*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.R1601*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1950	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACCCAGGGTCGCTCCATCTCT	0.517													False	0	False	11:128839218	0	A	128839218	G	A	128839218	4	1	88	1	0	0	0	0	0	1	0	0	883	1095	38	1	419	1	ARHGAP32	11	128839218	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31763	128839218	6167298	12397	20109											
ARHGAP32	9743	broad.mit.edu	37	chr11	128839523	128839523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatggcttctccggctgcGtgctaccatggcctccgtga	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128839523G>A	ENST00000310343.9	-	22	5542	c.5543C>T	c.(5542-5544)aCg>aTg	p.T1848M	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.T1499M|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.T1499M	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1848	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTCCGGCTGCGTGCTACCATG	0.617													False	0	False	11:128839523	0	A	128839523	G	A	128839523	3	1	88	1	0	0	0	0	1	0	0	0	883	1145	40	1	724	1	ARHGAP32	11	128839523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	305	128839523	6166993	12398	20110											
ARHGAP32	9743	broad.mit.edu	37	chr11	128844286	128844286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgagactgtaccaatgaCttctgacacccgtggtggta	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128844286C>T	ENST00000310343.9	-	20	2763	c.2764G>A	c.(2764-2766)Gtc>Atc	p.V922I	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.V573I|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.V848I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.V573I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	922					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTACCAATGACTTCTGACACC	0.458													False	0	False	11:128844286	0	T	128844286	C	T	128844286	3	4	88	1	0	0	0	0	1	0	0	0	883	565	20	2	3511	2	ARHGAP32	11	128844286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4763	128844286	6162230	12399	20111											
BARX2	8538	broad.mit.edu	37	chr11	129321161	129321161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtcaggagcagctggAgccctctcaggggcaggagg	18	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129321161A>G	ENST00000281437.4	+	4	800	c.704A>G	c.(703-705)gAg>gGg	p.E235G	BARX2_ENST00000531946.1_Missense_Mutation_p.E113G|BARX2_ENST00000526127.1_Missense_Mutation_p.E90G	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	235										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAGCAGCTGGAGCCCTCTCAG	0.577													False	0	False	11:129321161	0	G	129321161	A	G	129321161	3	3	88	1	0	0	0	0	1	0	0	0	1320	304	11	4	718	4	BARX2	11	129321161	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	476875	129321161	5685355	12400	20112											
PRDM10	56980	broad.mit.edu	37	chr11	129784704	129784704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctggtaatccccttgtggCgttcggtagtctgtcgttaa	11	10	2	0	rs147190509	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129784704C>T	ENST00000358825.5	-	18	2979	c.2748G>A	c.(2746-2748)acG>acA	p.T916T	PRDM10_ENST00000360871.3_Silent_p.T912T|PRDM10_ENST00000528746.1_Silent_p.T886T|PRDM10_ENST00000526082.1_Silent_p.T830T|PRDM10_ENST00000423662.2_Silent_p.T830T|PRDM10_ENST00000304538.6_Silent_p.T826T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	916	Thr-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCCCTTGTGGCGTTCGGTAGT	0.557													False	0	False	11:129784704	0	T	129784704	C	T	129784704	2	4	88	1	0	0	0	0	0	0	0	1	12527	755	27	1		1	PRDM10	11	129784704	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463543	129784704	5221812	12401	20113											
PRDM10	56980	broad.mit.edu	37	chr11	129793151	129793151	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtcataccttaaattGcttcccacaggtggaacaca	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129793151G>A	ENST00000358825.5	-	14	2269	c.2038C>T	c.(2038-2040)Caa>Taa	p.Q680*	PRDM10_ENST00000360871.3_Nonsense_Mutation_p.Q676*|PRDM10_ENST00000528746.1_Nonsense_Mutation_p.Q650*|PRDM10_ENST00000526082.1_Nonsense_Mutation_p.Q594*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.Q594*|PRDM10_ENST00000304538.6_Nonsense_Mutation_p.Q590*	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACCTTAAATTGCTTCCCACAG	0.507											OREG0021513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:129793151	0	A	129793151	G	A	129793151	4	1	88	1	0	0	0	0	0	1	0	0	12527	1328	46	2	1480	2	PRDM10	11	129793151	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8447	129793151	5213365	12402	20114											
PRDM10	56980	broad.mit.edu	37	chr11	129804999	129804999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccctcatacatacctgCtaaacacatctagtttctca	2	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129804999C>T	ENST00000358825.5	-	9	1385	c.1154G>A	c.(1153-1155)aGc>aAc	p.S385N	PRDM10_ENST00000360871.3_Missense_Mutation_p.S385N|PRDM10_ENST00000528746.1_Missense_Mutation_p.S359N|PRDM10_ENST00000526082.1_Missense_Mutation_p.S299N|PRDM10_ENST00000423662.2_Missense_Mutation_p.S299N|PRDM10_ENST00000304538.6_Missense_Mutation_p.S299N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TACATACCTGCTAAACACATC	0.418													False	0	False	11:129804999	0	T	129804999	C	T	129804999	3	4	88	1	0	0	0	0	1	0	0	0	12527	797	28	2	2384	2	PRDM10	11	129804999	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11848	129804999	5201517	12403	20115											
APLP2	334	broad.mit.edu	37	chr11	129993589	129993589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctctccaagggaaagtgCgtgcgctttatatatggtgg	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129993589C>T	ENST00000263574.5	+	7	1077	c.1005C>T	c.(1003-1005)tgC>tgT	p.C335C	APLP2_ENST00000338167.5_Silent_p.C335C|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Silent_p.C345C|APLP2_ENST00000528499.1_Intron|APLP2_ENST00000543137.1_Silent_p.C242C|APLP2_ENST00000345598.5_Intron	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	335	BPTI/Kunitz inhibitor.				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGGGAAAGTGCGTGCGCTTTA	0.547													False	0	True	11:129993589	0	T	129993589	C	T	129993589	2	4	88	1	0	0	0	0	0	0	0	1	781	776	27	1		1	APLP2	11	129993589	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	188590	129993589	5012927	12404	20116											
APLP2	334	broad.mit.edu	37	chr11	130011402	130011402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactgtttcaggtcattgacGagactctggatgttaaggaa	12	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130011402G>A	ENST00000263574.5	+	16	2041	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	APLP2_ENST00000338167.5_Missense_Mutation_p.E645K|APLP2_ENST00000539648.1_Missense_Mutation_p.E445K|APLP2_ENST00000278756.7_Missense_Mutation_p.E655K|APLP2_ENST00000528499.1_Missense_Mutation_p.E589K|APLP2_ENST00000543137.1_Missense_Mutation_p.E552K|APLP2_ENST00000345598.5_Missense_Mutation_p.E416K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	657					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GGTCATTGACGAGACTCTGGA	0.502													False	0	False	11:130011402	0	A	130011402	G	A	130011402	3	1	88	1	0	0	0	0	1	0	0	0	781	1059	37	1	2031	1	APLP2	11	130011402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17813	130011402	4995114	12405	20117											
ST14	6768	broad.mit.edu	37	chr11	130067743	130067743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgcccgcagcatgcccGgggcagttcacgtgccgcac	13	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130067743G>A	ENST00000278742.5	+	12	1780	c.1362G>A	c.(1360-1362)ccG>ccA	p.P454P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	454	LDL-receptor class A 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CAGCATGCCCGGGGCAGTTCA	0.706													False	0	True	11:130067743	0	A	130067743	G	A	130067743	2	1	88	1	0	0	0	0	0	0	0	1	15293	1103	39	1		1	ST14	11	130067743	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56341	130067743	4938773	12406	20118											
ST14	6768	broad.mit.edu	37	chr11	130068436	130068436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccttcaggtgttccaatgGgaagtgcctctcgaaaagcc	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130068436G>T	ENST00000278742.5	+	14	2022	c.1604G>T	c.(1603-1605)gGg>gTg	p.G535V		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	535	LDL-receptor class A 3.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGTTCCAATGGGAAGTGCCTC	0.672													False	0	True	11:130068436	0	T	130068436	G	T	130068436	3	4	88	1	0	0	0	0	1	0	0	0	15293	1232	43	3	1658	3	ST14	11	130068436	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	693	130068436	4938080	12407	20119											
ZBTB44	29068	broad.mit.edu	37	chr11	130106855	130106855	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtggtgtttatattccccGaaggaagtgaaagtggcact	12	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130106855G>A	ENST00000397753.1	-	5	1694	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ZBTB44_ENST00000357899.4_Silent_p.F467F|ZBTB44_ENST00000530205.1_Intron|ZBTB44_ENST00000525842.1_Intron			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TATATTCCCCGAAGGAAGTGA	0.483													False	0	True	11:130106855	0	A	130106855	G	A	130106855	2	1	88	1	0	0	0	0	0	0	0	1	17628	1073	37	1		1	ZBTB44	11	130106855	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38419	130106855	4899661	12408	20120											
ZBTB44	29068	broad.mit.edu	37	chr11	130108397	130108397	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgaatcgcaccccgcaGgttggacactgaaaaggtct	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130108397G>T	ENST00000525842.1	-	4	1576	c.1209C>A	c.(1207-1209)acC>acA	p.T403T	ZBTB44_ENST00000397753.1_Silent_p.T403T|ZBTB44_ENST00000357899.4_Silent_p.T403T|ZBTB44_ENST00000530205.1_Silent_p.T403T	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		GCACCCCGCAGGTTGGACACT	0.498													False	0	False	11:130108397	0	T	130108397	G	T	130108397	2	4	88	1	0	0	0	0	0	0	0	1	17628	987	35	3		3	ZBTB44	11	130108397	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1542	130108397	4898119	12409	20121											
ADAMTS8	11095	broad.mit.edu	37	chr11	130275525	130275525	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttgttgcaggtggcagaGgcctggccggaggggtccct	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130275525G>T	ENST00000257359.6	-	9	3304	c.2598C>A	c.(2596-2598)gcC>gcA	p.A866A		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	866	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGGTGGCAGAGGCCTGGCCGG	0.662													False	0	False	11:130275525	0	T	130275525	G	T	130275525	2	4	88	1	0	0	0	0	0	0	0	1	272	987	35	3		3	ADAMTS8	11	130275525	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167128	130275525	4730991	12410	20122											
ADAMTS8	11095	broad.mit.edu	37	chr11	130281332	130281332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaggggggcattcctccGtgtggcatgactggtacttg	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130281332G>A	ENST00000257359.6	-	6	2436	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	577	TSP type-1 1.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	p.T577M(1)|p.T606M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCATTCCTCCGTGTGGCATGA	0.567													False	0	False	11:130281332	0	A	130281332	G	A	130281332	3	1	88	1	0	0	0	0	1	0	0	0	272	1145	40	1	955	1	ADAMTS8	11	130281332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5807	130281332	4725184	12411	20123											
ADAMTS8	11095	broad.mit.edu	37	chr11	130288972	130288972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgagcaggatggccgtGtcgtagtgctctgggtggcg	19	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130288972G>A	ENST00000257359.6	-	2	1642	c.936C>T	c.(934-936)gaC>gaT	p.D312D		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	312	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGATGGCCGTGTCGTAGTGCT	0.637													False	0	False	11:130288972	0	A	130288972	G	A	130288972	2	1	88	1	0	0	0	0	0	0	0	1	272	1368	48	2		2	ADAMTS8	11	130288972	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7640	130288972	4717544	12412	20124											
SNX19	399979	broad.mit.edu	37	chr11	130748391	130748391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcagcagactcctcaaCagaggcactgagatccaaga	11	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130748391C>T	ENST00000265909.4	-	11	3474	c.2905G>A	c.(2905-2907)Gtt>Att	p.V969I	SNX19_ENST00000530356.1_Missense_Mutation_p.V349I|SNX19_ENST00000528555.1_Missense_Mutation_p.V349I|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000534726.1_Missense_Mutation_p.V209I|SNX19_ENST00000539184.1_Missense_Mutation_p.V412I|SNX19_ENST00000545537.1_Missense_Mutation_p.V209I|SNX19_ENST00000426933.2_Missense_Mutation_p.V137I	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	969					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GACTCCTCAACAGAGGCACTG	0.498													False	0	False	11:130748391	0	T	130748391	C	T	130748391	3	4	88	1	0	0	0	0	1	0	0	0	14970	478	17	2	77	2	SNX19	11	130748391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	459419	130748391	4258125	12413	20125											
SNX19	399979	broad.mit.edu	37	chr11	130784879	130784879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcctgcagaaccctctGgctcactgtaacttaggaat	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130784879G>A	ENST00000265909.4	-	1	1525	c.956C>T	c.(955-957)cCa>cTa	p.P319L	SNX19_ENST00000533214.1_Missense_Mutation_p.P319L|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	319					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGAACCCTCTGGCTCACTGTA	0.522													False	0	False	11:130784879	0	A	130784879	G	A	130784879	3	1	88	1	0	0	0	0	1	0	0	0	14970	1348	47	2	2066	2	SNX19	11	130784879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36488	130784879	4221637	12414	20126											
SNX19	399979	broad.mit.edu	37	chr11	130785193	130785193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcaacaaattcacaacGccacgcgtataggtgacttc	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130785193G>A	ENST00000265909.4	-	1	1211	c.642C>T	c.(640-642)ggC>ggT	p.G214G	SNX19_ENST00000533214.1_Silent_p.G214G|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	214	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AATTCACAACGCCACGCGTAT	0.572													False	0	False	11:130785193	0	A	130785193	G	A	130785193	2	1	88	1	0	0	0	0	0	0	0	1	14970	1074	38	1		1	SNX19	11	130785193	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	314	130785193	4221323	12415	20127											
NTM	50863	broad.mit.edu	37	chr11	131781469	131781469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccacaggagtgcccgtgCgcagcggagatgccaccttc	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:131781469C>T	ENST00000374786.1	+	1	573	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	NTM_ENST00000425719.2_Missense_Mutation_p.R32C|NTM_ENST00000374784.1_Missense_Mutation_p.R32C|NTM_ENST00000539799.1_Missense_Mutation_p.R32C|NTM_ENST00000427481.2_Missense_Mutation_p.R23C|NTM_ENST00000374791.3_Missense_Mutation_p.R32C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	32					cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGTGCCCGTGCGCAGCGGAGA	0.617											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:131781469	0	T	131781469	C	T	131781469	3	4	88	1	0	0	0	0	1	0	0	0	10767	768	27	1	182	1	NTM	11	131781469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	996276	131781469	3225047	12416	20128											
NTM	50863	broad.mit.edu	37	chr11	132016258	132016258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaatgacaagtggtgcCtggatcctcgcgtggtcctt	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132016258C>A	ENST00000374786.1	+	2	729	c.250C>A	c.(250-252)Ctg>Atg	p.L84M	NTM_ENST00000425719.2_Missense_Mutation_p.L84M|NTM_ENST00000374784.1_Missense_Mutation_p.L84M|NTM_ENST00000539799.1_Missense_Mutation_p.L84M|NTM_ENST00000427481.2_Missense_Mutation_p.L75M|NTM_ENST00000374791.3_Missense_Mutation_p.L84M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	84	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAAGTGGTGCCTGGATCCTCG	0.572													False	0	False	11:132016258	0	A	132016258	C	A	132016258	3	1	88	1	0	0	0	0	1	0	0	0	10767	680	24	3	342	3	NTM	11	132016258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	234789	132016258	2990258	12417	20129											
NTM	50863	broad.mit.edu	37	chr11	132082001	132082001	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgcatagcaactggtagAccagagcctacggttacttg	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132082001A>G	ENST00000374786.1	+	3	965	c.486A>G	c.(484-486)agA>agG	p.R162R	NTM_ENST00000425719.2_Silent_p.R162R|NTM_ENST00000374784.1_Silent_p.R162R|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Silent_p.R162R|NTM_ENST00000427481.2_Silent_p.R153R|NTM_ENST00000374791.3_Silent_p.R162R	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	162	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAACTGGTAGACCAGAGCCTA	0.423													False	0	False	11:132082001	0	G	132082001	A	G	132082001	2	3	88	1	0	0	0	0	0	0	0	1	10767	272	10	4		4	NTM	11	132082001	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65743	132082001	2924515	12418	20130											
NTM	50863	broad.mit.edu	37	chr11	132177654	132177654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggagcagtcaggggactacGagtgcagtgcctccaatgac	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132177654G>A	ENST00000374786.1	+	4	1077	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NTM_ENST00000425719.2_Missense_Mutation_p.E200K|NTM_ENST00000374784.1_Missense_Mutation_p.E200K|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Missense_Mutation_p.E200K|NTM_ENST00000427481.2_Missense_Mutation_p.E191K|NTM_ENST00000374791.3_Missense_Mutation_p.E200K	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	200	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGGGGACTACGAGTGCAGTGC	0.567													False	0	True	11:132177654	0	A	132177654	G	A	132177654	3	1	88	1	0	0	0	0	1	0	0	0	10767	1059	37	1	698	1	NTM	11	132177654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95653	132177654	2828862	12419	20131											
OPCML	4978	broad.mit.edu	37	chr11	132812820	132812820	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggaaggacagctccctaCctgagggtggcgctctcccc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132812820C>T	ENST00000331898.7	-	1	746		c.e1+1		OPCML_ENST00000541867.1_Splice_Site|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000374778.4_Splice_Site|OPCML_ENST00000524381.1_Splice_Site	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like						cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGCTCCCTACCTGAGGGTGG	0.682													False	0	False	11:132812820	0	T	132812820	C	T	132812820	5	4	88	1	0	0	0	0	0	0	1	0	10942	521	18	2	897	2	OPCML	11	132812820	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	635166	132812820	2193696	12420	20132											
OPCML	4978	broad.mit.edu	37	chr11	132812857	132812857	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgccggaccgtcacgTtgtccatagctttggggaag	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132812857T>C	ENST00000331898.7	-	1	709	c.131A>G	c.(130-132)aAc>aGc	p.N44S	OPCML_ENST00000541867.1_Missense_Mutation_p.N44S|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000374778.4_Missense_Mutation_p.N3S|OPCML_ENST00000524381.1_Missense_Mutation_p.N37S	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	44	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GACCGTCACGTTGTCCATAGC	0.662													False	0	False	11:132812857	0	C	132812857	T	C	132812857	3	2	88	1	0	0	0	0	1	0	0	0	10942	1725	60	4	934	4	OPCML	11	132812857	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37	132812857	2193659	12421	20133											
IGSF9B	22997	broad.mit.edu	37	chr11	133790142	133790142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccaaatgtgctggggcCgccgtgcgcccccggctcag	15	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790142C>T	ENST00000321016.8	-	18	3708	c.3478G>A	c.(3478-3480)Ggc>Agc	p.G1160S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1160S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1160	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTGCTGGGGCCGCCGTGCGCC	0.687													False	0	False	11:133790142	0	T	133790142	C	T	133790142	3	4	88	1	0	0	0	0	1	0	0	0	7656	652	23	1	579	1	IGSF9B	11	133790142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	977285	133790142	1216374	12422	20134											
IGSF9B	22997	broad.mit.edu	37	chr11	133790553	133790553	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcaagggcagcgtgcTgttggatgcattctctccat	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790553T>G	ENST00000321016.8	-	18	3297	c.3067A>C	c.(3067-3069)Agc>Cgc	p.S1023R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.S1023R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1023	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGCAGCGTGCTGTTGGATGCA	0.672													False	0	False	11:133790553	0	G	133790553	T	G	133790553	3	3	88	1	0	0	0	0	1	0	0	0	7656	1580	55	4	990	4	IGSF9B	11	133790553	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	411	133790553	1215963	12423	20135											
IGSF9B	22997	broad.mit.edu	37	chr11	133790610	133790610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggtggccaaagggcccctCggtgggcaggggcggggacg	23	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790610C>T	ENST00000321016.8	-	18	3240	c.3010G>A	c.(3010-3012)Gag>Aag	p.E1004K	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E1004K			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1004	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AAGGGCCCCTCGGTGGGCAGG	0.677													False	0	False	11:133790610	0	T	133790610	C	T	133790610	3	4	88	1	0	0	0	0	1	0	0	0	7656	893	31	1	1047	1	IGSF9B	11	133790610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57	133790610	1215906	12424	20136											
IGSF9B	22997	broad.mit.edu	37	chr11	133790821	133790821	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggccctccagcccgcggggCtggaaccgagggctgtatgc	17	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790821C>A	ENST00000321016.8	-	18	3029	c.2799G>T	c.(2797-2799)caG>caT	p.Q933H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.Q933H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	933	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCCGCGGGGCTGGAACCGAG	0.697													False	0	True	11:133790821	0	A	133790821	C	A	133790821	3	1	88	1	0	0	0	0	1	0	0	0	7656	796	28	3	1258	3	IGSF9B	11	133790821	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211	133790821	1215695	12425	20137											
IGSF9B	22997	broad.mit.edu	37	chr11	133791235	133791235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccctggtcgtcggaggaTtctgacggcgctcggagcgt	17	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133791235T>G	ENST00000321016.8	-	18	2615	c.2385A>C	c.(2383-2385)gaA>gaC	p.E795D	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E795D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	795						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGTCGGAGGATTCTGACGGCG	0.657													False	0	False	11:133791235	0	G	133791235	T	G	133791235	3	3	88	1	0	0	0	0	1	0	0	0	7656	1490	52	4	1672	4	IGSF9B	11	133791235	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	414	133791235	1215281	12426	20138											
IGSF9B	22997	broad.mit.edu	37	chr11	133795814	133795814	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgattggctatgaggcacctCggtggggtgaccagcaccag	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133795814C>T	ENST00000321016.8	-	14	2084	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	IGSF9B_ENST00000533871.2_Silent_p.P618P			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	618	Fibronectin type-III 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGAGGCACCTCGGTGGGGTGA	0.617													False	0	False	11:133795814	0	T	133795814	C	T	133795814	2	4	88	1	0	0	0	0	0	0	0	1	7656	871	31	1		1	IGSF9B	11	133795814	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4579	133795814	1210702	12427	20139											
IGSF9B	22997	broad.mit.edu	37	chr11	133801989	133801989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacctgcaggggacggcCgtccttgttccacttgacca	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133801989C>T	ENST00000321016.8	-	8	1317	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G363S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	363	Ig-like 4.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGGGACGGCCGTCCTTGTTC	0.607													False	0	False	11:133801989	0	T	133801989	C	T	133801989	3	4	88	1	0	0	0	0	1	0	0	0	7656	652	23	1	3010	1	IGSF9B	11	133801989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6175	133801989	1204527	12428	20140											
IGSF9B	22997	broad.mit.edu	37	chr11	133814213	133814213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagccctggtcctcagagCgaacttgttccagccgcaga	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133814213C>T	ENST00000321016.8	-	3	541	c.311G>A	c.(310-312)cGc>cAc	p.R104H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R104H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	104	Ig-like 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTCCTCAGAGCGAACTTGTTC	0.562													False	0	False	11:133814213	0	T	133814213	C	T	133814213	3	4	88	1	0	0	0	0	1	0	0	0	7656	768	27	1	3806	1	IGSF9B	11	133814213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12224	133814213	1192303	12429	20141											
IGSF9B	22997	broad.mit.edu	37	chr11	133815997	133815997	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgggtagtagccaaacTtgatgaagatagggatgggg	18	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133815997T>G	ENST00000321016.8	-	2	451	c.221A>C	c.(220-222)aAg>aCg	p.K74T	IGSF9B_ENST00000533871.2_Missense_Mutation_p.K74T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	74	Ig-like 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTAGCCAAACTTGATGAAGAT	0.617													False	0	False	11:133815997	0	G	133815997	T	G	133815997	3	3	88	1	0	0	0	0	1	0	0	0	7656	1609	56	4	3900	4	IGSF9B	11	133815997	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1784	133815997	1190519	12430	20142											
NCAPD3	23310	broad.mit.edu	37	chr11	134037948	134037948	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatttgccaaggccatgtcAtcttcttccataaggaggtc	8	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134037948A>C	ENST00000534548.2	-	27	3580	c.3516T>G	c.(3514-3516)gaT>gaG	p.D1172E		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1172					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGCCATGTCATCTTCTTCCA	0.453													False	0	False	11:134037948	0	C	134037948	A	C	134037948	3	2	88	1	0	0	0	0	1	0	0	0	10274	214	8	4	1016	4	NCAPD3	11	134037948	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	221951	134037948	968568	12431	20143											
NCAPD3	23310	broad.mit.edu	37	chr11	134055268	134055268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgtattattctgctgtaGtccagcctgggtgaggagcc	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134055268G>A	ENST00000534548.2	-	17	2263	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	733					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTCTGCTGTAGTCCAGCCTGG	0.438													False	0	False	11:134055268	0	A	134055268	G	A	134055268	2	1	88	1	0	0	0	0	0	0	0	1	10274	1020	36	2		2	NCAPD3	11	134055268	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17320	134055268	951248	12432	20144											
NCAPD3	23310	broad.mit.edu	37	chr11	134073691	134073691	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatttcctgcaccaggaaCttatgctttaagaacttctg	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134073691C>T	ENST00000534548.2	-	11	1390	c.1326G>A	c.(1324-1326)aaG>aaA	p.K442K		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	442					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCACCAGGAACTTATGCTTTA	0.468													False	0	False	11:134073691	0	T	134073691	C	T	134073691	2	4	88	1	0	0	0	0	0	0	0	1	10274	564	20	2		2	NCAPD3	11	134073691	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18423	134073691	932825	12433	20145											
NCAPD3	23310	broad.mit.edu	37	chr11	134074865	134074865	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttaattcatccacaagggCgctttgtaaaagaaaaacac	6	9	1	1	rs112640641		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134074865C>T	ENST00000534548.2	-	9	1082	c.1018G>A	c.(1018-1020)Gcc>Acc	p.A340T		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	340					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCCACAAGGGCGCTTTGTAAA	0.383													False	0	True	11:134074865	0	T	134074865	C	T	134074865	5	4	88	1	0	0	0	0	0	0	1	0	10274	782	27	1	3586	1	NCAPD3	11	134074865	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1174	134074865	931651	12434	20146											
NCAPD3	23310	broad.mit.edu	37	chr11	134076509	134076509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctgataaactggaccGcctggtttctacagttgatg	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134076509G>A	ENST00000534548.2	-	8	1065	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	334					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAACTGGACCGCCTGGTTTCT	0.458													False	0	False	11:134076509	0	A	134076509	G	A	134076509	3	1	88	1	0	0	0	0	1	0	0	0	10274	1087	38	1	3607	1	NCAPD3	11	134076509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1644	134076509	930007	12435	20147											
NCAPD3	23310	broad.mit.edu	37	chr11	134079098	134079098	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaattagttaatgaaacaaaGacctagaaaacagatatgaa	6	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134079098G>A	ENST00000534548.2	-	6	799	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	245					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ATGAAACAAAGACCTAGAAAA	0.358													False	0	True	11:134079098	0	A	134079098	G	A	134079098	2	1	88	1	0	0	0	0	0	0	0	1	10274	929	33	2		2	NCAPD3	11	134079098	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2589	134079098	927418	12436	20148											
VPS26B	112936	broad.mit.edu	37	chr11	134109963	134109963	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgtagttcacacactcagCacatacccagagctgaactc	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134109963C>A	ENST00000281187.5	+	3	937	c.459C>A	c.(457-459)agC>agA	p.S153R	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Missense_Mutation_p.S153R	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	153					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ACACACTCAGCACATACCCAG	0.453													False	0	False	11:134109963	0	A	134109963	C	A	134109963	3	1	88	1	0	0	0	0	1	0	0	0	17282	709	25	3	469	3	VPS26B	11	134109963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30865	134109963	896553	12437	20149											
VPS26B	112936	broad.mit.edu	37	chr11	134113076	134113076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgagaatcaaaatcaaGcacatggagatagacatcat	9	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134113076G>A	ENST00000281187.5	+	4	1087	c.609G>A	c.(607-609)aaG>aaA	p.K203K	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Silent_p.K203K	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	203					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TCAAAATCAAGCACATGGAGA	0.453													False	0	False	11:134113076	0	A	134113076	G	A	134113076	2	1	88	1	0	0	0	0	0	0	0	1	17282	962	34	2		2	VPS26B	11	134113076	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3113	134113076	893440	12438	20150											
VPS26B	112936	broad.mit.edu	37	chr11	134115478	134115478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgacaacaactgcagGcagtaggcccccagggccga	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134115478G>A	ENST00000281187.5	+	6	1483	c.1005G>A	c.(1003-1005)agG>agA	p.R335R	VPS26B_ENST00000525095.2_Silent_p.R335R	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	335					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ACAACTGCAGGCAGTAGGCCC	0.682													False	0	True	11:134115478	0	A	134115478	G	A	134115478	2	1	88	1	0	0	0	0	0	0	0	1	17282	1194	42	2		2	VPS26B	11	134115478	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2402	134115478	891038	12439	20151											
ACAD8	27034	broad.mit.edu	37	chr11	134123498	134123498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggagctgcggcggctatgCtgtggagcggctgccggcgt	20	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134123498C>T	ENST00000281182.4	+	1	110	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	ACAD8_ENST00000374752.4_Silent_p.L2L|ACAD8_ENST00000537423.1_5'UTR|ACAD8_ENST00000543332.1_5'UTR	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	2					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		GGCGGCTATGCTGTGGAGCGG	0.706													False	0	False	11:134123498	0	T	134123498	C	T	134123498	2	4	88	1	0	0	0	0	0	0	0	1	110	796	28	2		2	ACAD8	11	134123498	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8020	134123498	883018	12440	20152											
GLB1L3	112937	broad.mit.edu	37	chr11	134183877	134183877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caataactcttccctggaggGctttaccatctattccctgg	7	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134183877G>A	ENST00000431683.2	+	17	1622	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	541					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCCTGGAGGGCTTTACCATC	0.483													False	0	True	11:134183877	0	A	134183877	G	A	134183877	3	1	88	1	0	0	0	0	1	0	0	0	6475	1203	42	2	1688	2	GLB1L3	11	134183877	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60379	134183877	822639	12441	20153											
GLB1L2	89944	broad.mit.edu	37	chr11	134238539	134238539	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctccctcctccggcagaGgttttgaaaaccgtgtctgc	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134238539G>T	ENST00000535456.2	+	10	1079	c.891G>T	c.(889-891)gaG>gaT	p.E297D	GLB1L2_ENST00000339772.7_Splice_Site_p.E297D|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Splice_Site_p.E297D	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	297					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTCCGGCAGAGGTTTTGAAAA	0.542													False	0	False	11:134238539	0	T	134238539	G	T	134238539	5	4	88	1	0	0	0	0	0	0	1	0	6474	1014	35	3	929	3	GLB1L2	11	134238539	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54662	134238539	767977	12442	20154											
GLB1L2	89944	broad.mit.edu	37	chr11	134244527	134244527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggttgtattcatcaatgGccagaaccttggacgttact	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134244527G>A	ENST00000535456.2	+	18	1927	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	GLB1L2_ENST00000339772.7_Missense_Mutation_p.G580D|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.G580D	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	580					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TTCATCAATGGCCAGAACCTT	0.547													False	0	False	11:134244527	0	A	134244527	G	A	134244527	3	1	88	1	0	0	0	0	1	0	0	0	6474	1203	42	2	1809	2	GLB1L2	11	134244527	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5988	134244527	761989	12443	20155											
B3GAT1	27087	broad.mit.edu	37	chr11	134257523	134257523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagggcagcacgatgaggaCgatcgctaggatgtcccgtc	14	12	0	1	rs144109297		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134257523C>T	ENST00000524765.1	-	2	4575	c.31G>A	c.(31-33)Gtc>Atc	p.V11I	B3GAT1_ENST00000537389.1_Missense_Mutation_p.V24I|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000392580.1_Missense_Mutation_p.V11I|B3GAT1_ENST00000312527.4_Missense_Mutation_p.V11I			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	11					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	p.V11I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		ACGATGAGGACGATCGCTAGG	0.627													False	0	False	11:134257523	0	T	134257523	C	T	134257523	3	4	88	1	0	0	0	0	1	0	0	0	1257	536	19	1	989	1	B3GAT1	11	134257523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12996	134257523	748993	12444	20156											
IQSEC3	440073	broad.mit.edu	37	chr12	176596	176596	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagggcgtcctgagcaggaGacctgagtgagcggggagag	19	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:176596G>T	ENST00000538872.1	+	1	666	c.548G>T	c.(547-549)aGa>aTa	p.R183I	IQSEC3_ENST00000326261.4_Missense_Mutation_p.R183I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	183					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CTGAGCAGGAGACCTGAGTGA	0.647													False	0	False	12:176596	0	T	176596	G	T	176596	3	4	88	1	0	0	0	0	1	0	0	0	7869	942	33	3	550	3	IQSEC3	12	176596	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		176596	133675299	12445	20157											
IQSEC3	440073	broad.mit.edu	37	chr12	250375	250375	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcccatttcctcctccagCgaaagggcctcagccgccag	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:250375C>T	ENST00000538872.1	+	5	2195	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Nonsense_Mutation_p.R693*|IQSEC3_ENST00000382841.2_Nonsense_Mutation_p.R390*|RP11-598F7.4_ENST00000508953.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	693	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCTCCTCCAGCGAAAGGGCCT	0.612													False	0	False	12:250375	0	T	250375	C	T	250375	4	4	88	1	0	0	0	0	0	1	0	0	7869	760	27	1	2095	1	IQSEC3	12	250375	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73779	250375	133601520	12446	20158											
IQSEC3	440073	broad.mit.edu	37	chr12	271138	271138	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggagctggtggtaggcatCtatgagaggatacagcagaa	16	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:271138C>A	ENST00000538872.1	+	8	2608	c.2490C>A	c.(2488-2490)atC>atA	p.I830I	IQSEC3_ENST00000382841.2_Silent_p.I527I|IQSEC3_ENST00000326261.4_Silent_p.I830I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	830	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGTAGGCATCTATGAGAGGA	0.577													False	0	False	12:271138	0	A	271138	C	A	271138	2	1	88	1	0	0	0	0	0	0	0	1	7869	903	32	3		3	IQSEC3	12	271138	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20763	271138	133580757	12447	20159											
IQSEC3	440073	broad.mit.edu	37	chr12	274980	274980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtgccctgggctcggaCgagatgcagaagttcgtgga	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:274980C>T	ENST00000538872.1	+	11	3013	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	IQSEC3_ENST00000382841.2_Silent_p.D662D|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Silent_p.D965D			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	965	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGGCTCGGACGAGATGCAGA	0.582													False	0	False	12:274980	0	T	274980	C	T	274980	2	4	88	1	0	0	0	0	0	0	0	1	7869	535	19	1		1	IQSEC3	12	274980	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3842	274980	133576915	12448	20160											
SLC6A13	6540	broad.mit.edu	37	chr12	330167	330167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaggtcctgggggtggCgggagccgagggtcctgctg	21	9	0	1	rs61738753	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:330167C>T	ENST00000343164.4	-	15	1808	c.1756G>A	c.(1756-1758)Gcc>Acc	p.A586T	SLC6A13_ENST00000445055.2_Missense_Mutation_p.A494T	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	586					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CTGGGGGTGGCGGGAGCCGAG	0.657													False	0	True	12:330167	0	T	330167	C	T	330167	3	4	88	1	0	0	0	0	1	0	0	0	14756	768	27	1	56	1	SLC6A13	12	330167	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55187	330167	133521728	12449	20161											
KDM5A	5927	broad.mit.edu	37	chr12	432350	432350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatatagcagagaagggaGgtcttctaatgggtagcgat	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:432350G>A	ENST00000399788.2	-	16	2535	c.2173C>T	c.(2173-2175)Ctc>Ttc	p.L725F	KDM5A_ENST00000382815.4_Missense_Mutation_p.L725F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	725					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGAGAAGGGAGGTCTTCTAAT	0.328			T	NUP98	AML								False	0	False	12:432350	0	A	432350	G	A	432350	3	1	88	1	0	0	0	0	1	0	0	0	8183	1000	35	2	2951	2	KDM5A	12	432350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102183	432350	133419545	12450	20162											
CCDC77	84318	broad.mit.edu	37	chr12	542436	542437	+	Frame_Shift_Ins	INS	-	-	AGTGAGCCTT													acggattcaccttgaggaaaINStacaagttcagcaccagaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:542436_542437insAGTGAGCCTT	ENST00000239830.4	+	9	948_949	c.769_770insAGTGAGCCTT	c.(769-771)atafs	p.I257fs	CCDC77_ENST00000422000.1_Frame_Shift_Ins_p.I225fs|CCDC77_ENST00000540180.1_Frame_Shift_Ins_p.I225fs|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Frame_Shift_Ins_p.I225fs	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	257						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CCTTGAGGAAATACAAGTTCAG	0.441													False	0	True	12:542436	0	AGTGAGCCTT	542437	-	AGTGAGCCTT	542436	7	5	88	1	0	1	1	0	0	0	0	0	2872	101	4	0	795	0	CCDC77	12	542436	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	110086	542436	133309459	12451	20163											
B4GALNT3	283358	broad.mit.edu	37	chr12	657400	657400	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctctcctcttccagtggCgacggaacgaccctggagcc	10	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:657400C>T	ENST00000266383.5	+	9	803	c.790C>T	c.(790-792)Cga>Tga	p.R264*	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	264						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTTCCAGTGGCGACGGAACGA	0.582													False	0	False	12:657400	0	T	657400	C	T	657400	4	4	88	1	0	0	0	0	0	1	0	0	1272	760	27	1	824	1	B4GALNT3	12	657400	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114964	657400	133194495	12452	20164											
B4GALNT3	283358	broad.mit.edu	37	chr12	665887	665887	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagctggtggggaggaggtCgaggcccggaacctgcaagg	19	10	0	0	rs139340276	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:665887C>T	ENST00000266383.5	+	15	2248	c.2235C>T	c.(2233-2235)gtC>gtT	p.V745V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	745						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGGAGGAGGTCGAGGCCCGGA	0.637													False	0	False	12:665887	0	T	665887	C	T	665887	2	4	88	1	0	0	0	0	0	0	0	1	1272	871	31	1		1	B4GALNT3	12	665887	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8487	665887	133186008	12453	20165											
WNK1	65125	broad.mit.edu	37	chr12	987393	987393	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagcagcagggaatacagCagacagcccctcctcaacag	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:987393C>T	ENST00000537687.1	+	11	4121	c.3478C>T	c.(3478-3480)Cag>Tag	p.Q1160*	WNK1_ENST00000315939.6_Nonsense_Mutation_p.Q747*|WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q746*|WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q340*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q1245*	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	905					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGGAATACAGCAGACAGCCCC	0.438													False	0	False	12:987393	0	T	987393	C	T	987393	4	4	88	1	0	0	0	0	0	1	0	0	17461	711	25	2	3779	2	WNK1	12	987393	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	321506	987393	132864502	12454	20166											
ERC1	23085	broad.mit.edu	37	chr12	1137623	1137623	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attgagttcttcaatgaataGcatcaagaccttctggagcc	8	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1137623G>T	ENST00000397203.2	+	2	960	c.554G>T	c.(553-555)aGc>aTc	p.S185I	ERC1_ENST00000546231.2_Missense_Mutation_p.S185I|ERC1_ENST00000589028.1_Missense_Mutation_p.S185I|ERC1_ENST00000543086.3_Missense_Mutation_p.S185I|ERC1_ENST00000360905.4_Missense_Mutation_p.S185I|ERC1_ENST00000355446.5_Missense_Mutation_p.S185I			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	185					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TCAATGAATAGCATCAAGACC	0.428													False	0	False	12:1137623	0	T	1137623	G	T	1137623	3	4	88	1	0	0	0	0	1	0	0	0	5242	971	34	3	556	3	ERC1	12	1137623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	150230	1137623	132714272	12455	20167											
ERC1	23085	broad.mit.edu	37	chr12	1219453	1219453	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttgagtactgaggaaagGgaagaagaaatgaagcaaat	13	3	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1219453G>T	ENST00000397203.2	+	5	1663	c.1257G>T	c.(1255-1257)agG>agT	p.R419S	ERC1_ENST00000546231.2_Missense_Mutation_p.R419S|ERC1_ENST00000589028.1_Missense_Mutation_p.R419S|ERC1_ENST00000543086.3_Missense_Mutation_p.R419S|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.R419S|ERC1_ENST00000355446.5_Missense_Mutation_p.R419S			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	419					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CTGAGGAAAGGGAAGAAGAAA	0.388													False	0	True	12:1219453	0	T	1219453	G	T	1219453	3	4	88	1	0	0	0	0	1	0	0	0	5242	1223	43	3	1271	3	ERC1	12	1219453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81830	1219453	132632442	12456	20168											
ERC1	23085	broad.mit.edu	37	chr12	1250905	1250905	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagagatacatgacctcaaGgacatgttggatgtgaagga	14	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1250905G>T	ENST00000397203.2	+	8	2095	c.1689G>T	c.(1687-1689)aaG>aaT	p.K563N	ERC1_ENST00000546231.2_Missense_Mutation_p.K563N|ERC1_ENST00000589028.1_Missense_Mutation_p.K563N|ERC1_ENST00000543086.3_Missense_Mutation_p.K535N|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.K563N|ERC1_ENST00000355446.5_Missense_Mutation_p.K563N			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	563					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATGACCTCAAGGACATGTTGG	0.428													False	0	False	12:1250905	0	T	1250905	G	T	1250905	3	4	88	1	0	0	0	0	1	0	0	0	5242	991	35	3	1715	3	ERC1	12	1250905	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31452	1250905	132600990	12457	20169											
ERC1	23085	broad.mit.edu	37	chr12	1291225	1291225	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgcaaggcgacctttcagaGaaagaggttaagctccccaa	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1291225G>A	ENST00000397203.2	+	10	2416	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	ERC1_ENST00000546231.2_Silent_p.E670E|ERC1_ENST00000589028.1_Silent_p.E670E|ERC1_ENST00000543086.3_Silent_p.E642E|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Silent_p.E670E|ERC1_ENST00000355446.5_Silent_p.E670E			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	670					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACCTTTCAGAGAAAGAGGTTA	0.363													False	0	True	12:1291225	0	A	1291225	G	A	1291225	2	1	88	1	0	0	0	0	0	0	0	1	5242	933	33	2		2	ERC1	12	1291225	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40320	1291225	132560670	12458	20170											
ERC1	23085	broad.mit.edu	37	chr12	1346029	1346029	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgttagaggaggcgcgaCgacgggaggacaatctcaac	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1346029C>T	ENST00000397203.2	+	13	2852	c.2446C>T	c.(2446-2448)Cga>Tga	p.R816*	ERC1_ENST00000546231.2_Nonsense_Mutation_p.R820*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.R816*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.R788*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Nonsense_Mutation_p.R816*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.R816*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	816					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGAGGCGCGACGACGGGAGGA	0.458													False	0	False	12:1346029	0	T	1346029	C	T	1346029	4	4	88	1	0	0	0	0	0	1	0	0	5242	528	19	1	2492	1	ERC1	12	1346029	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54804	1346029	132505866	12459	20171											
WNT5B	81029	broad.mit.edu	37	chr12	1741887	1741887	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcggtgcccagcccgtgtgCagtcagcttcccgggctctc	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1741887C>T	ENST00000397196.2	+	3	376	c.144C>T	c.(142-144)tgC>tgT	p.C48C	WNT5B_ENST00000537031.1_Silent_p.C48C|WNT5B_ENST00000542408.1_Silent_p.C48C|WNT5B_ENST00000310594.3_Silent_p.C48C	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	48					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			AGCCCGTGTGCAGTCAGCTTC	0.567													False	0	False	12:1741887	0	T	1741887	C	T	1741887	2	4	88	1	0	0	0	0	0	0	0	1	17476	718	25	2		2	WNT5B	12	1741887	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	395858	1741887	132110008	12460	20172											
CACNA2D4	93589	broad.mit.edu	37	chr12	1992050	1992050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttgctgtccatgtaggCctctgtccagatgatgtcgt	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1992050C>T	ENST00000382722.5	-	13	1830	c.1468G>A	c.(1468-1470)Gcc>Acc	p.A490T	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A375T|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A426T|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A490T|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A426T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	490	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCCATGTAGGCCTCTGTCCAG	0.587													False	0	False	12:1992050	0	T	1992050	C	T	1992050	3	4	88	1	0	0	0	0	1	0	0	0	2571	739	26	2	2049	2	CACNA2D4	12	1992050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250163	1992050	131859845	12461	20173											
DCP1B	196513	broad.mit.edu	37	chr12	2055426	2055426	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgaagagataggcttcataGattatatttaagaagttgtc	9	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2055426G>A	ENST00000280665.6	-	9	1879	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	DCP1B_ENST00000397173.4_Silent_p.I498I	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	600					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGGCTTCATAGATTATATTTA	0.393													False	0	False	12:2055426	0	A	2055426	G	A	2055426	2	1	88	1	0	0	0	0	0	0	0	1	4324	932	33	2		2	DCP1B	12	2055426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63376	2055426	131796469	12462	20174											
DCP1B	196513	broad.mit.edu	37	chr12	2062076	2062076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaagcattttgtacaccacGagaagttccaatgttgtgag	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2062076G>A	ENST00000280665.6	-	7	1109	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	DCP1B_ENST00000540622.1_Missense_Mutation_p.R218C|DCP1B_ENST00000397173.4_Missense_Mutation_p.R242C|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	344			R -> H (in dbSNP:rs715146).		exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGTACACCACGAGAAGTTCCA	0.507													False	0	False	12:2062076	0	A	2062076	G	A	2062076	3	1	88	1	0	0	0	0	1	0	0	0	4324	1058	37	1	835	1	DCP1B	12	2062076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6650	2062076	131789819	12463	20175											
DCP1B	196513	broad.mit.edu	37	chr12	2062369	2062369	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggtggagagtctgcggaGgctccacagtttcctgacat	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2062369G>T	ENST00000280665.6	-	7	816	c.737C>A	c.(736-738)cCt>cAt	p.P246H	DCP1B_ENST00000540622.1_Missense_Mutation_p.P120H|DCP1B_ENST00000397173.4_Missense_Mutation_p.P144H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	246					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGTCTGCGGAGGCTCCACAGT	0.527													False	0	False	12:2062369	0	T	2062369	G	T	2062369	3	4	88	1	0	0	0	0	1	0	0	0	4324	1000	35	3	1128	3	DCP1B	12	2062369	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293	2062369	131789526	12464	20176											
DCP1B	196513	broad.mit.edu	37	chr12	2064720	2064720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttttggctcagaacaggTtttacactgaaatagaaaag	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2064720T>C	ENST00000280665.6	-	6	608	c.529A>G	c.(529-531)Acc>Gcc	p.T177A	DCP1B_ENST00000540622.1_Missense_Mutation_p.T51A|DCP1B_ENST00000397173.4_Missense_Mutation_p.T75A|DCP1B_ENST00000541700.1_Intron	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	177					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TCAGAACAGGTTTTACACTGA	0.353													False	0	True	12:2064720	0	C	2064720	T	C	2064720	3	2	88	1	0	0	0	0	1	0	0	0	4324	1725	60	4	1340	4	DCP1B	12	2064720	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2351	2064720	131787175	12465	20177											
CACNA1C	775	broad.mit.edu	37	chr12	2717701	2717701	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaccgctccatcgactcCcacacggaagacaagggccc	9	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2717701C>A	ENST00000399655.1	+	27	3646	c.3381C>A	c.(3379-3381)tcC>tcA	p.S1127S	CACNA1C_ENST00000399641.1_Silent_p.S1127S|CACNA1C_ENST00000399637.1_Silent_p.S1127S|CACNA1C_ENST00000399603.1_Silent_p.S1127S|CACNA1C_ENST00000402845.3_Silent_p.S1127S|CACNA1C_ENST00000399621.1_Silent_p.S1127S|CACNA1C_ENST00000327702.7_Silent_p.S1127S|CACNA1C_ENST00000406454.3_Silent_p.S1127S|CACNA1C_ENST00000399649.1_Silent_p.S1127S|CACNA1C_ENST00000399634.1_Silent_p.S1127S|CACNA1C_ENST00000480911.1_Silent_p.S1127S|CACNA1C_ENST00000399595.1_Silent_p.S1127S|CACNA1C_ENST00000344100.3_Silent_p.S1127S|CACNA1C_ENST00000347598.4_Silent_p.S1147S|CACNA1C_ENST00000399638.1_Silent_p.S1127S|CACNA1C_ENST00000399601.1_Silent_p.S1127S|CACNA1C_ENST00000399591.1_Silent_p.S1127S|CACNA1C_ENST00000335762.5_Silent_p.S1152S|CACNA1C_ENST00000399606.1_Silent_p.S1147S|CACNA1C_ENST00000399644.1_Silent_p.S1127S|CACNA1C_ENST00000399617.1_Silent_p.S1127S|CACNA1C_ENST00000399629.1_Silent_p.S1127S|CACNA1C_ENST00000399597.1_Silent_p.S1127S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1147	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCATCGACTCCCACACGGAAG	0.552													False	0	True	12:2717701	0	A	2717701	C	A	2717701	2	1	88	1	0	0	0	0	0	0	0	1	2560	610	22	3		3	CACNA1C	12	2717701	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	652981	2717701	131134194	12466	20178											
CACNA1C	775	broad.mit.edu	37	chr12	2721099	2721099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctgcctgttcaaaatcGccatgaacatcctcaacatg	7	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2721099G>A	ENST00000399655.1	+	29	4013	c.3748G>A	c.(3748-3750)Gcc>Acc	p.A1250T	CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1250T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1250T|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A1270T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1275T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1270T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1250T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1250T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1270					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTTCAAAATCGCCATGAACAT	0.567													False	0	False	12:2721099	0	A	2721099	G	A	2721099	3	1	88	1	0	0	0	0	1	0	0	0	2560	1087	38	1	4034	1	CACNA1C	12	2721099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3398	2721099	131130796	12467	20179											
CACNA1C	775	broad.mit.edu	37	chr12	2760913	2760913	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcatccggacgctgctgtgGaccttcatcaagtccttcca	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2760913G>A	ENST00000399655.1	+	32	4318	c.4053G>A	c.(4051-4053)tgG>tgA	p.W1351*	CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W1338*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W1373*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.W1399*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W1379*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W1340*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W1376*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W1371*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.W1351*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W1368*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W1351*	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1399					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCTGCTGTGGACCTTCATCA	0.632													False	0	False	12:2760913	0	A	2760913	G	A	2760913	4	1	88	1	0	0	0	0	0	1	0	0	2560	1183	41	2	4505	2	CACNA1C	12	2760913	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39814	2760913	131090982	12468	20180											
CACNA1C	775	broad.mit.edu	37	chr12	2774091	2774091	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacagcacggagggtgaaAcaccctgtggtagcagcttt	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2774091A>C	ENST00000399655.1	+	35	4598	c.4333A>C	c.(4333-4335)Aca>Cca	p.T1445P	CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1445P|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1432P|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1467P|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T1493P|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1473P|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1434P|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1470P|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1465P|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1445P|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1462P|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1445P	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1493					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGAGGGTGAAACACCCTGTGG	0.587													False	0	True	12:2774091	0	C	2774091	A	C	2774091	3	2	88	1	0	0	0	0	1	0	0	0	2560	43	2	4	4797	4	CACNA1C	12	2774091	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13178	2774091	131077804	12469	20181											
CACNA1C	775	broad.mit.edu	37	chr12	2775934	2775934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggaagctgtgccctcacCgcgtggcttgcaaagtaaga	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2775934C>T	ENST00000399655.1	+	37	4874	c.4609C>T	c.(4609-4611)Cgc>Tgc	p.R1537C	CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1537C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1524C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1559C|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1585C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1565C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1526C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1562C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1557C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1537C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1554C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1537C	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1585	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTGCCCTCACCGCGTGGCTTG	0.537													False	0	False	12:2775934	0	T	2775934	C	T	2775934	3	4	88	1	0	0	0	0	1	0	0	0	2560	652	23	1	5081	1	CACNA1C	12	2775934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1843	2775934	131075961	12470	20182											
CACNA1C	775	broad.mit.edu	37	chr12	2788897	2788897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtcagcactgtggagggCcacgggccccccttgtcccc	13	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2788897C>T	ENST00000399655.1	+	42	5644	c.5379C>T	c.(5377-5379)ggC>ggT	p.G1793G	CACNA1C_ENST00000399641.1_Silent_p.G1793G|CACNA1C_ENST00000399637.1_Silent_p.G1812G|CACNA1C_ENST00000399603.1_Silent_p.G1793G|CACNA1C_ENST00000402845.3_Silent_p.G1812G|CACNA1C_ENST00000399621.1_Silent_p.G1812G|CACNA1C_ENST00000327702.7_Silent_p.G1793G|CACNA1C_ENST00000406454.3_Silent_p.G1793G|CACNA1C_ENST00000399649.1_Silent_p.G1799G|CACNA1C_ENST00000399634.1_Silent_p.G1793G|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399595.1_Silent_p.G1801G|CACNA1C_ENST00000344100.3_Silent_p.G1834G|CACNA1C_ENST00000347598.4_Silent_p.G1841G|CACNA1C_ENST00000399638.1_Silent_p.G1821G|CACNA1C_ENST00000399601.1_Silent_p.G1793G|CACNA1C_ENST00000399591.1_Silent_p.G1801G|CACNA1C_ENST00000335762.5_Silent_p.G1818G|CACNA1C_ENST00000399606.1_Silent_p.G1813G|CACNA1C_ENST00000399644.1_Silent_p.G1793G|CACNA1C_ENST00000399617.1_Silent_p.G1793G|CACNA1C_ENST00000399629.1_Silent_p.G1810G|CACNA1C_ENST00000399597.1_Silent_p.G1793G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1841					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTGTGGAGGGCCACGGGCCCC	0.692													False	0	True	12:2788897	0	T	2788897	C	T	2788897	2	4	88	1	0	0	0	0	0	0	0	1	2560	726	26	2		2	CACNA1C	12	2788897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12963	2788897	131062998	12471	20183											
CACNA1C	775	broad.mit.edu	37	chr12	2795331	2795331	+	Splice_Site	SNP	G	G	T													gctctctggctggctttgcaGgtcgaagggcctccttccac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795331G>T	ENST00000399655.1	+	45	5945		c.e45-1		CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGGCTTTGCAGGTCGAAGGGC	0.577													False	0	False	12:2795331	0	T	2795331	G	T	2795331	5	4	88	1	0	0	0	0	0	0	1	0	2560	1014	35	3	6567	3	CACNA1C	12	2795331	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6434	2795331	131056564	12472	20184	227	2									
CACNA1C	775	broad.mit.edu	37	chr12	2795339	2795339	+	Silent	SNP	G	G	A													gctggctttgcaggtcgaagGgcctccttccacctggaatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795339G>A	ENST00000399655.1	+	45	5953	c.5688G>A	c.(5686-5688)agG>agA	p.R1896R	CACNA1C_ENST00000399641.1_Silent_p.R1896R|CACNA1C_ENST00000399637.1_Silent_p.R1915R|CACNA1C_ENST00000399603.1_Silent_p.R1896R|CACNA1C_ENST00000402845.3_Silent_p.R1915R|CACNA1C_ENST00000399621.1_Silent_p.R1915R|CACNA1C_ENST00000327702.7_Silent_p.R1931R|CACNA1C_ENST00000406454.3_Silent_p.R1967R|CACNA1C_ENST00000399649.1_Silent_p.R1902R|CACNA1C_ENST00000399634.1_Silent_p.R1967R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399595.1_Silent_p.R1904R|CACNA1C_ENST00000344100.3_Silent_p.R1937R|CACNA1C_ENST00000347598.4_Silent_p.R1944R|CACNA1C_ENST00000399638.1_Silent_p.R1924R|CACNA1C_ENST00000399601.1_Silent_p.R1896R|CACNA1C_ENST00000399591.1_Silent_p.R1904R|CACNA1C_ENST00000335762.5_Silent_p.R1921R|CACNA1C_ENST00000399606.1_Silent_p.R1916R|CACNA1C_ENST00000399644.1_Silent_p.R1896R|CACNA1C_ENST00000399617.1_Silent_p.R1931R|CACNA1C_ENST00000399629.1_Silent_p.R1913R|CACNA1C_ENST00000399597.1_Silent_p.R1896R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1979					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CAGGTCGAAGGGCCTCCTTCC	0.572													False	0	True	12:2795339	0	A	2795339	G	A	2795339	2	1	88	1	0	0	0	0	0	0	0	1	2560	1223	43	2		2	CACNA1C	12	2795339	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	2795339	131056556	12473	20185	227	2									
CACNA1C	775	broad.mit.edu	37	chr12	2797893	2797893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcatggtgcccagccaggCtggggccccagggaggcagt	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2797893C>A	ENST00000399655.1	+	46	6330	c.6065C>A	c.(6064-6066)gCt>gAt	p.A2022D	CACNA1C_ENST00000399641.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A2041D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A2041D|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A2057D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2093D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A2028D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2093D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A2063D|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A2070D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A2050D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A2030D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A2047D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A2042D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A2022D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A2057D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A2039D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A2022D	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2105					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCCAGCCAGGCTGGGGCCCCA	0.721													False	0	False	12:2797893	0	A	2797893	C	A	2797893	3	1	88	1	0	0	0	0	1	0	0	0	2560	797	28	3	6956	3	CACNA1C	12	2797893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2554	2797893	131054002	12474	20186											
FKBP4	2288	broad.mit.edu	37	chr12	2907877	2907877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttgtcccacaggtggaGttgtttgagtttaagggaga	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2907877G>A	ENST00000001008.4	+	4	586	c.399G>A	c.(397-399)gaG>gaA	p.E133E	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	133	PPIase FKBP-type 1.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CACAGGTGGAGTTGTTTGAGT	0.483													False	0	False	12:2907877	0	A	2907877	G	A	2907877	2	1	88	1	0	0	0	0	0	0	0	1	5950	1020	36	2		2	FKBP4	12	2907877	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109984	2907877	130944018	12475	20187											
FOXM1	2305	broad.mit.edu	37	chr12	2973867	2973867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acgtgcgcccagggggagttCggttttgatggtcatgttcc	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2973867C>T	ENST00000342628.2	-	7	1185	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	FOXM1_ENST00000361953.3_Missense_Mutation_p.E343K|FOXM1_ENST00000359843.3_Missense_Mutation_p.E358K	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	358					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGGGGGAGTTCGGTTTTGATG	0.532													False	0	False	12:2973867	0	T	2973867	C	T	2973867	3	4	88	1	0	0	0	0	1	0	0	0	6060	893	31	1	1349	1	FOXM1	12	2973867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65990	2973867	130878028	12476	20188											
TEAD4	7004	broad.mit.edu	37	chr12	3120191	3120191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaacgagctgattgcccGctacatcaagctccggacag	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3120191G>A	ENST00000359864.2	+	4	438	c.248G>A	c.(247-249)cGc>cAc	p.R83H	TEAD4_ENST00000397122.2_5'UTR|TEAD4_ENST00000358409.2_Missense_Mutation_p.R83H	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	83					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTGATTGCCCGCTACATCAAG	0.627													False	0	True	12:3120191	0	A	3120191	G	A	3120191	3	1	88	1	0	0	0	0	1	0	0	0	15823	1087	38	1	254	1	TEAD4	12	3120191	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146324	3120191	130731704	12477	20189											
TEAD4	7004	broad.mit.edu	37	chr12	3121335	3121335	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcctctctccctgccacaGgtctccagccacatccaggt	7	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3121335G>T	ENST00000359864.2	+	5	481		c.e5-1		TEAD4_ENST00000397122.2_Splice_Site|TEAD4_ENST00000358409.2_Splice_Site	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4						hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CCCTGCCACAGGTCTCCAGCC	0.607													False	0	False	12:3121335	0	T	3121335	G	T	3121335	5	4	88	1	0	0	0	0	0	0	1	0	15823	1014	35	3	301	3	TEAD4	12	3121335	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1144	3121335	130730560	12478	20190											
TSPAN9	10867	broad.mit.edu	37	chr12	3387723	3387723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaccattgtcatggtgaCgggcttcctcggctgcctgg	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3387723C>T	ENST00000011898.5	+	4	361	c.200C>T	c.(199-201)aCg>aTg	p.T67M	TSPAN9_ENST00000407263.1_Missense_Mutation_p.T67M|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Missense_Mutation_p.T67M	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	67						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GTCATGGTGACGGGCTTCCTC	0.577													False	0	True	12:3387723	0	T	3387723	C	T	3387723	3	4	88	1	0	0	0	0	1	0	0	0	16737	536	19	1	206	1	TSPAN9	12	3387723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266388	3387723	130464172	12479	20191											
EFCAB4B	84766	broad.mit.edu	37	chr12	3789439	3789439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctgtggggtcagatagCcattgccatcagcatccagg	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3789439C>T	ENST00000440314.2	-	5	778	c.305G>A	c.(304-306)gGc>gAc	p.G102D	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.G102D|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.G102D	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	102	EF-hand 2.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGTCAGATAGCCATTGCCATC	0.507													False	0	False	12:3789439	0	T	3789439	C	T	3789439	3	4	88	1	0	0	0	0	1	0	0	0	4967	739	26	2	2146	2	EFCAB4B	12	3789439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	401716	3789439	130062456	12480	20192											
PARP11	57097	broad.mit.edu	37	chr12	3931121	3931121	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atccatcgtcttcccaaagaGattagcaacttcattatatt	4	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3931121G>T	ENST00000228820.4	-	6	610	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	PARP11_ENST00000447133.3_Missense_Mutation_p.L75I|PARP11_ENST00000397096.2_Missense_Mutation_p.L149I|PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000427057.2_Missense_Mutation_p.L75I	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	149	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TTCCCAAAGAGATTAGCAACT	0.353													False	0	False	12:3931121	0	T	3931121	G	T	3931121	3	4	88	1	0	0	0	0	1	0	0	0	11524	942	33	3	562	3	PARP11	12	3931121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141682	3931121	129920774	12481	20193											
PARP11	57097	broad.mit.edu	37	chr12	3939112	3939112	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaccagccccactgggtatCtgacgtgtccatgtcatcca	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3939112C>T	ENST00000228820.4	-	2	235	c.91G>A	c.(91-93)Gat>Aat	p.D31N	PARP11_ENST00000447133.3_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.D24N|PARP11_ENST00000427057.2_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	24	WWE.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			CACTGGGTATCTGACGTGTCC	0.423													False	0	False	12:3939112	0	T	3939112	C	T	3939112	3	4	88	1	0	0	0	0	1	0	0	0	11524	913	32	2	953	2	PARP11	12	3939112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7991	3939112	129912783	12482	20194											
CCND2	894	broad.mit.edu	37	chr12	4385201	4385201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagaagtgcgaagaagagGtcttccctctggccatgaat	11	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4385201G>A	ENST00000261254.3	+	2	495	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	76	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CGAAGAAGAGGTCTTCCCTCT	0.547			T	IGL@	"NHL,CLL"								False	0	False	12:4385201	0	A	4385201	G	A	4385201	3	1	88	1	0	0	0	0	1	0	0	0	2940	1261	44	2	232	2	CCND2	12	4385201	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	446089	4385201	129466694	12483	20195											
CCND2	894	broad.mit.edu	37	chr12	4385275	4385275	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgaagtcccatctgcaactCctgggtgctgtctgcatgtt	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4385275C>T	ENST00000261254.3	+	2	569	c.300C>T	c.(298-300)ctC>ctT	p.L100L	RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	100	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			ATCTGCAACTCCTGGGTGCTG	0.562			T	IGL@	"NHL,CLL"								False	0	False	12:4385275	0	T	4385275	C	T	4385275	2	4	88	1	0	0	0	0	0	0	0	1	2940	842	30	2		2	CCND2	12	4385275	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	4385275	129466620	12484	20196											
C12orf5	57103	broad.mit.edu	37	chr12	4460469	4460469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcaaagcgctaagtgagCtgagggccatggccaaagca	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4460469C>T	ENST00000179259.4	+	5	374	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	103						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GCTAAGTGAGCTGAGGGCCAT	0.478													False	0	False	12:4460469	0	T	4460469	C	T	4460469	2	4	88	1	0	0	0	0	0	0	0	1	1703	796	28	2		2	C12orf5	12	4460469	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75194	4460469	129391426	12485	20197											
FGF23	8074	broad.mit.edu	37	chr12	4479908	4479908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtcgtacccgttttccagCgtctggtgttggaacctgca	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4479908C>T	ENST00000237837.1	-	3	502	c.357G>A	c.(355-357)acG>acA	p.T119T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	119					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTTTTCCAGCGTCTGGTGTT	0.607													False	0	False	12:4479908	0	T	4479908	C	T	4479908	2	4	88	1	0	0	0	0	0	0	0	1	5892	755	27	1		1	FGF23	12	4479908	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19439	4479908	129371987	12486	20198											
FGF23	8074	broad.mit.edu	37	chr12	4488548	4488548	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccctactcactgtagatggtCtgatggggtgcgccatccac	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4488548C>A	ENST00000237837.1	-	1	346	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	67					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGTAGATGGTCTGATGGGGTG	0.592													False	0	False	12:4488548	0	A	4488548	C	A	4488548	3	1	88	1	0	0	0	0	1	0	0	0	5892	912	32	3	566	3	FGF23	12	4488548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8640	4488548	129363347	12487	20199											
C12orf4	57102	broad.mit.edu	37	chr12	4609488	4609488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgagagattagaatgcCgtgtaatataaaattcccct	7	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4609488C>T	ENST00000261250.3	-	11	1343	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	C12orf4_ENST00000509318.2_5'UTR|C12orf4_ENST00000545746.1_Missense_Mutation_p.R419Q	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	419										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATTAGAATGCCGTGTAATATA	0.383													False	0	False	12:4609488	0	T	4609488	C	T	4609488	3	4	88	1	0	0	0	0	1	0	0	0	1694	652	23	1	418	1	C12orf4	12	4609488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120940	4609488	129242407	12488	20200											
C12orf4	57102	broad.mit.edu	37	chr12	4634664	4634664	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttacttgctgggattcaaAatgctgagcagccagtgaat	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4634664A>C	ENST00000261250.3	-	5	679	c.592T>G	c.(592-594)Ttt>Gtt	p.F198V	C12orf4_ENST00000545746.1_Missense_Mutation_p.F198V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	198										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TGGGATTCAAAATGCTGAGCA	0.318													False	0	True	12:4634664	0	C	4634664	A	C	4634664	3	2	88	1	0	0	0	0	1	0	0	0	1694	14	1	4	1106	4	C12orf4	12	4634664	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25176	4634664	129217231	12489	20201											
RAD51AP1	10635	broad.mit.edu	37	chr12	4652985	4652985	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aatccagaacagcaccaaagGagttaaaacaagataaacca	6	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4652985G>T	ENST00000228843.9	+	3	174	c.124G>T	c.(124-126)Gag>Tag	p.E42*	RAD51AP1_ENST00000352618.4_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000321524.7_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000544927.1_Nonsense_Mutation_p.E42*|RAD51AP1_ENST00000543041.1_5'UTR	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	42					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AGCACCAAAGGAGTTAAAACA	0.328													False	0	False	12:4652985	0	T	4652985	G	T	4652985	4	4	88	1	0	0	0	0	0	1	0	0	13065	1175	41	3	134	3	RAD51AP1	12	4652985	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18321	4652985	129198910	12490	20202											
DYRK4	8798	broad.mit.edu	37	chr12	4708305	4708305	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgcagatgctttcggtagaGaaaatcattcactgtgatct	9	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4708305G>T	ENST00000540757.2	+	7	832	c.672G>T	c.(670-672)gaG>gaT	p.E224D	DYRK4_ENST00000543431.1_Missense_Mutation_p.E224D|DYRK4_ENST00000010132.5_Missense_Mutation_p.E224D	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	224	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTTCGGTAGAGAAAATCATTC	0.458													False	0	True	12:4708305	0	T	4708305	G	T	4708305	3	4	88	1	0	0	0	0	1	0	0	0	4888	933	33	3	690	3	DYRK4	12	4708305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55320	4708305	129143590	12491	20203											
DYRK4	8798	broad.mit.edu	37	chr12	4714099	4714099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatacacgtacatccaaagCcggttctaccgatccccaga	7	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4714099C>T	ENST00000540757.2	+	9	961	c.801C>T	c.(799-801)agC>agT	p.S267S	DYRK4_ENST00000543431.1_Silent_p.S267S|DYRK4_ENST00000010132.5_Silent_p.S267S	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	267	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACATCCAAAGCCGGTTCTACC	0.562											OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:4714099	0	T	4714099	C	T	4714099	2	4	88	1	0	0	0	0	0	0	0	1	4888	738	26	2		2	DYRK4	12	4714099	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5794	4714099	129137796	12492	20204											
DYRK4	8798	broad.mit.edu	37	chr12	4721773	4721773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgcttggattcatcagtctCggaacctcaagccacagccc	8	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4721773C>T	ENST00000540757.2	+	12	1370	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000543431.1_Missense_Mutation_p.R404W|DYRK4_ENST00000545342.1_Missense_Mutation_p.R41W|DYRK4_ENST00000010132.5_Missense_Mutation_p.R404W	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	404						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TCATCAGTCTCGGAACCTCAA	0.537													False	0	False	12:4721773	0	T	4721773	C	T	4721773	3	4	88	1	0	0	0	0	1	0	0	0	4888	875	31	1	1248	1	DYRK4	12	4721773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7674	4721773	129130122	12493	20205											
DYRK4	8798	broad.mit.edu	37	chr12	4722727	4722727	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaacaaaagatagccccacGaagcatgttcagcattcagg	8	10	2	1	rs143171709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4722727G>A	ENST00000540757.2	+	13	1531	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000543431.1_Silent_p.T456T|DYRK4_ENST00000545342.1_Silent_p.T94T|DYRK4_ENST00000010132.5_Silent_p.T457T	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	457						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T858T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATAGCCCCACGAAGCATGTTC	0.473													False	0	False	12:4722727	0	A	4722727	G	A	4722727	2	1	88	1	0	0	0	0	0	0	0	1	4888	1045	37	1		1	DYRK4	12	4722727	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	954	4722727	129129168	12494	20206											
AKAP3	10566	broad.mit.edu	37	chr12	4737071	4737071	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctcaagaaggagtcgatgaGatccgagaccacctcttttg	10	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4737071G>T	ENST00000545990.2	-	5	1521	c.997C>A	c.(997-999)Ctc>Atc	p.L333I	AKAP3_ENST00000228850.1_Missense_Mutation_p.L333I|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	333					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GAGTCGATGAGATCCGAGACC	0.483													False	0	False	12:4737071	0	T	4737071	G	T	4737071	3	4	88	1	0	0	0	0	1	0	0	0	452	942	33	3	1572	3	AKAP3	12	4737071	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14344	4737071	129114824	12495	20207											
NDUFA9	4704	broad.mit.edu	37	chr12	4796197	4796197	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aactcaaggccattgaggtgCtgcggcgtcatcgcacttac	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4796197C>A	ENST00000266544.5	+	11	1077	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	RP11-234B24.6_ENST00000544741.2_Intron|NDUFA9_ENST00000540688.1_Missense_Mutation_p.L112M	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	353					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CATTGAGGTGCTGCGGCGTCA	0.522													False	0	False	12:4796197	0	A	4796197	C	A	4796197	3	1	88	1	0	0	0	0	1	0	0	0	10340	796	28	3	1099	3	NDUFA9	12	4796197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59126	4796197	129055698	12496	20208											
GALNT8	26290	broad.mit.edu	37	chr12	4835936	4835936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccggaagtttggttacaaCgcgtacctcagcaaccagct	9	12	1	0	rs34532073	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4835936C>T	ENST00000252318.2	+	2	787	c.450C>T	c.(448-450)aaC>aaT	p.N150N	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	150						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TTGGTTACAACGCGTACCTCA	0.572													False	0	False	12:4835936	0	T	4835936	C	T	4835936	2	4	88	1	0	0	0	0	0	0	0	1	6262	535	19	1		1	GALNT8	12	4835936	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39739	4835936	129015959	12497	20209											
GALNT8	26290	broad.mit.edu	37	chr12	4874633	4874633	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgcctgacagaccctgGcaaggcggagaagcccacct	12	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4874633G>T	ENST00000252318.2	+	10	2019	c.1682G>T	c.(1681-1683)gGc>gTc	p.G561V		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	561	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACAGACCCTGGCAAGGCGGAG	0.448													False	0	False	12:4874633	0	T	4874633	G	T	4874633	3	4	88	1	0	0	0	0	1	0	0	0	6262	1203	42	3	1720	3	GALNT8	12	4874633	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38697	4874633	128977262	12498	20210											
GALNT8	26290	broad.mit.edu	37	chr12	4881757	4881757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactggggtcagaccaacagCcagtgatcctcagatggtgc	13	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4881757C>T	ENST00000252318.2	+	11	2245	c.1908C>T	c.(1906-1908)agC>agT	p.S636S		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	636						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AGACCAACAGCCAGTGATCCT	0.498													False	0	False	12:4881757	0	T	4881757	C	T	4881757	2	4	88	1	0	0	0	0	0	0	0	1	6262	738	26	2		2	GALNT8	12	4881757	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7124	4881757	128970138	12499	20211											
KCNA6	3742	broad.mit.edu	37	chr12	4919450	4919450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgcttcttcgaccccctgagGaacgagtacttcttcgaccg	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4919450G>T	ENST00000433855.1	+	1	1109	c.243G>T	c.(241-243)agG>agT	p.R81S	KCNA6_ENST00000280684.3_Missense_Mutation_p.R81S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	81						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACCCCCTGAGGAACGAGTACT	0.657										HNSCC(72;0.22)			False	0	False	12:4919450	0	T	4919450	G	T	4919450	3	4	88	1	0	0	0	0	1	0	0	0	8057	1165	41	3	245	3	KCNA6	12	4919450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37693	4919450	128932445	12500	20212											
KCNA6	3742	broad.mit.edu	37	chr12	4920607	4920607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaactacttctaccaccGggagacggagcaggaggagc	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4920607G>A	ENST00000433855.1	+	1	2266	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q	KCNA6_ENST00000280684.3_Missense_Mutation_p.R467Q	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	467						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TTCTACCACCGGGAGACGGAG	0.617										HNSCC(72;0.22)			False	0	True	12:4920607	0	A	4920607	G	A	4920607	3	1	88	1	0	0	0	0	1	0	0	0	8057	1116	39	1	1402	1	KCNA6	12	4920607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1157	4920607	128931288	12501	20213											
KCNA1	3736	broad.mit.edu	37	chr12	5021052	5021052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggcccgccagggtcatcGccatcgtctccgtcatggtc	13	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5021052G>A	ENST00000382545.3	+	2	1615	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	170					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.A170T(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGGGTCATCGCCATCGTCTC	0.622													False	0	False	12:5021052	0	A	5021052	G	A	5021052	3	1	88	1	0	0	0	0	1	0	0	0	8051	1087	38	1	510	1	KCNA1	12	5021052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100445	5021052	128830843	12502	20214											
KCNA1	3736	broad.mit.edu	37	chr12	5021067	5021067	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgccatcgtctccgtcAtggtcatcctcatctccatc	5	17	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5021067A>G	ENST00000382545.3	+	2	1630	c.523A>G	c.(523-525)Atg>Gtg	p.M175V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	175					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGTCTCCGTCATGGTCATCCT	0.627													False	0	False	12:5021067	0	G	5021067	A	G	5021067	3	3	88	1	0	0	0	0	1	0	0	0	8051	217	8	4	525	4	KCNA1	12	5021067	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15	5021067	128830828	12503	20215											
KCNA5	3741	broad.mit.edu	37	chr12	5153586	5153586	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccacggcctcgacggccGcctcccgaggacgaggagga	15	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5153586G>A	ENST00000252321.3	+	1	502	c.273G>A	c.(271-273)ccG>ccA	p.P91P		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	91						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CTCGACGGCCGCCTCCCGAGG	0.731													False	0	False	12:5153586	0	A	5153586	G	A	5153586	2	1	88	1	0	0	0	0	0	0	0	1	8056	1074	38	1		1	KCNA5	12	5153586	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132519	5153586	128698309	12504	20216											
ANO2	57101	broad.mit.edu	37	chr12	5841705	5841705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatcgccacactccgtcGtgtttgtttccaatttctgg	7	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5841705G>A	ENST00000546188.1	-	15	1600	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000356134.5_Missense_Mutation_p.T510M|ANO2_ENST00000327087.8_Missense_Mutation_p.T509M			Q9NQ90	ANO2_HUMAN	anoctamin 2	514						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACACTCCGTCGTGTTTGTTTC	0.458													False	0	True	12:5841705	0	A	5841705	G	A	5841705	3	1	88	1	0	0	0	0	1	0	0	0	697	1145	40	1	1518	1	ANO2	12	5841705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	688119	5841705	128010190	12505	20217											
ANO2	57101	broad.mit.edu	37	chr12	5941725	5941725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcttctgcagagccgcGctgaacttctttgcaatgct	9	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5941725G>A	ENST00000546188.1	-	5	740	c.669C>T	c.(667-669)agC>agT	p.S223S	ANO2_ENST00000356134.5_Silent_p.S223S|ANO2_ENST00000327087.8_Silent_p.S222S			Q9NQ90	ANO2_HUMAN	anoctamin 2	227						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCAGAGCCGCGCTGAACTTCT	0.522													False	0	False	12:5941725	0	A	5941725	G	A	5941725	2	1	88	1	0	0	0	0	0	0	0	1	697	1078	38	1		1	ANO2	12	5941725	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100020	5941725	127910170	12506	20218											
ANO2	57101	broad.mit.edu	37	chr12	6030260	6030260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcagattgtgctcaaattcCtcccgctgctccttcctctc	5	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6030260C>A	ENST00000546188.1	-	3	539	c.468G>T	c.(466-468)gaG>gaT	p.E156D	ANO2_ENST00000356134.5_Missense_Mutation_p.E156D|ANO2_ENST00000327087.8_Missense_Mutation_p.E156D			Q9NQ90	ANO2_HUMAN	anoctamin 2	160						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCTCAAATTCCTCCCGCTGCT	0.607													False	0	False	12:6030260	0	A	6030260	C	A	6030260	3	1	88	1	0	0	0	0	1	0	0	0	697	680	24	3	2624	3	ANO2	12	6030260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88535	6030260	127821635	12507	20219											
VWF	7450	broad.mit.edu	37	chr12	6125267	6125267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttactgttggacctggCggcatcagctgctgcatcca	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6125267C>T	ENST00000261405.5	-	31	5697	c.5443G>A	c.(5443-5445)Gcc>Acc	p.A1815T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1815	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTGGACCTGGCGGCATCAGCT	0.522													False	0	False	12:6125267	0	T	6125267	C	T	6125267	3	4	88	1	0	0	0	0	1	0	0	0	17330	768	27	1	3086	1	VWF	12	6125267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95007	6125267	127726628	12508	20220											
VWF	7450	broad.mit.edu	37	chr12	6128448	6128448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaggagcagggtgatgCgggaggcttcagggcggtcg	19	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6128448C>T	ENST00000261405.5	-	28	4390	c.4136G>A	c.(4135-4137)cGc>cAc	p.R1379H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1379	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGGGTGATGCGGGAGGCTTC	0.577													False	0	True	12:6128448	0	T	6128448	C	T	6128448	3	4	88	1	0	0	0	0	1	0	0	0	17330	768	27	1	4405	1	VWF	12	6128448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3181	6128448	127723447	12509	20221											
VWF	7450	broad.mit.edu	37	chr12	6232045	6232045	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggattccttcctcctcatcCtgtgcccccataatatagga	6	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6232045C>A	ENST00000572068.1	-	3	392	c.12G>T	c.(10-12)caG>caT	p.Q4H	VWF_ENST00000261405.5_Intron|VWF_ENST00000545906.1_5'UTR			P04275	VWF_HUMAN	von Willebrand factor	0					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTCCTCATCCTGTGCCCCCA	0.453													False	0	False	12:6232045	0	A	6232045	C	A	6232045	3	1	88	1	0	0	0	0	1	0	0	0	17330	696	24	3		3	VWF	12	6232045	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103597	6232045	127619850	12510	20222											
CD9	928	broad.mit.edu	37	chr12	6334663	6334663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccaagagcatcttcgaGcaagaaactaataataataa	6	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6334663G>A	ENST00000382518.1	+	3	574	c.138G>A	c.(136-138)gaG>gaA	p.E46E	CD9_ENST00000009180.4_Silent_p.E46E|CD9_ENST00000481267.1_3'UTR|CD9_ENST00000382515.2_5'UTR			P21926	CD9_HUMAN	CD9 molecule	46					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GCATCTTCGAGCAAGAAACTA	0.478													False	0	False	12:6334663	0	A	6334663	G	A	6334663	2	1	88	1	0	0	0	0	0	0	0	1	3069	962	34	2		2	CD9	12	6334663	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102618	6334663	127517232	12511	20223											
PLEKHG6	55200	broad.mit.edu	37	chr12	6424222	6424222	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcacactttcagcatgTttgggatgccccggctgccc	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6424222T>C	ENST00000449001.2	+	3	744	c.250T>C	c.(250-252)Ttt>Ctt	p.F84L	PLEKHG6_ENST00000396988.3_Missense_Mutation_p.F116L|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.F116L|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.F116L	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	116					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TTTCAGCATGTTTGGGATGCC	0.632													False	0	True	12:6424222	0	C	6424222	T	C	6424222	3	2	88	1	0	0	0	0	1	0	0	0	12143	1725	60	4	402	4	PLEKHG6	12	6424222	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	89559	6424222	127427673	12512	20224											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438717	6438717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcgctcagccctaggcGccgcacgaattccttccagc	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6438717G>A	ENST00000162749.2	-	10	1428	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R334C	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	377	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						AGCCCTAGGCGCCGCACGAAT	0.701													False	0	False	12:6438717	0	A	6438717	G	A	6438717	3	1	88	1	0	0	0	0	1	0	0	0	16375	1087	38	1	242	1	TNFRSF1A	12	6438717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14495	6438717	127413178	12513	20225											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6442635	6442635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcttcctgcagccacacaCggtgtcccggtccactgtgc	10	16	1	0	rs104895278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6442635C>T	ENST00000162749.2	-	4	669	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.V81M|TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.V124M	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	124					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CAGCCACACACGGTGTCCCGG	0.547													False	0	True	12:6442635	0	T	6442635	C	T	6442635	3	4	88	1	0	0	0	0	1	0	0	0	16375	536	19	1	1025	1	TNFRSF1A	12	6442635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3918	6442635	127409260	12514	20226											
SCNN1A	0	broad.mit.edu	37	chr12	6457292	6457292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtatcggcttcggaaccttCggagcagcatgaggaacatg	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457292C>T	ENST00000358945.3	-	13	2263	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q|SCNN1A_ENST00000228916.2_Missense_Mutation_p.R586Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q|SCNN1A_ENST00000396966.2_3'UTR			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	586					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCGGAACCTTCGGAGCAGCAT	0.622													False	0	False	12:6457292	0	T	6457292	C	T	6457292	3	4	88	1	0	0	0	0	1	0	0	0	14008	884	31	1	256	1	SCNN1A	12	6457292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14657	6457292	127394603	12515	20227											
SCNN1A	0	broad.mit.edu	37	chr12	6457894	6457894	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccaggcacgacctaccGtgacagagggagactcagaa	11	13	1	4	rs72657549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457894G>A	ENST00000358945.3	-	12	2134	c.1694C>T	c.(1693-1695)aCg>aTg	p.T565M	SCNN1A_ENST00000360168.3_Splice_Site_p.T602M|SCNN1A_ENST00000540037.1_Splice_Site_p.T243M|SCNN1A_ENST00000228916.2_Splice_Site_p.T543M|SCNN1A_ENST00000543768.1_Splice_Site_p.T566M|SCNN1A_ENST00000396966.2_3'UTR			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	543					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	ACGACCTACCGTGACAGAGGG	0.537													False	0	False	12:6457894	0	A	6457894	G	A	6457894	5	1	88	1	0	0	0	0	0	0	1	0	14008	1159	40	1	389	1	SCNN1A	12	6457894	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	602	6457894	127394001	12516	20228											
TAPBPL	55080	broad.mit.edu	37	chr12	6567973	6567973	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcctccttctccagcctcaGgcaaagcgtggcaggcacct	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6567973G>T	ENST00000266556.7	+	5	1232	c.1067G>T	c.(1066-1068)aGg>aTg	p.R356M	TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	356	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TCCAGCCTCAGGCAAAGCGTG	0.597													False	0	False	12:6567973	0	T	6567973	G	T	6567973	3	4	88	1	0	0	0	0	1	0	0	0	15635	1000	35	3	1085	3	TAPBPL	12	6567973	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110079	6567973	127283922	12517	20229											
MRPL51	51258	broad.mit.edu	37	chr12	6601500	6601500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggatgcgtttattaaggttGtgcaggtcatcagcgaacat	12	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6601500G>A	ENST00000229238.3	-	3	785	c.324C>T	c.(322-324)caC>caT	p.H108H	MRPL51_ENST00000543703.1_Silent_p.H12H|MRPL51_ENST00000543164.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	108					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TATTAAGGTTGTGCAGGTCAT	0.448													False	0	False	12:6601500	0	A	6601500	G	A	6601500	2	1	88	1	0	0	0	0	0	0	0	1	9882	1368	48	2		2	MRPL51	12	6601500	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33527	6601500	127250395	12518	20230											
NCAPD2	9918	broad.mit.edu	37	chr12	6618917	6618917	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgagctcaggggcccctGgctatgctgcagcactttga	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6618917G>A	ENST00000545962.1	+	3	241	c.86G>A	c.(85-87)tGg>tAg	p.W29*	NCAPD2_ENST00000315579.5_Silent_p.L54L			Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	0	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGGGGCCCCTGGCTATGCTGC	0.413													False	0	False	12:6618917	0	A	6618917	G	A	6618917	4	1	88	1	0	0	0	0	0	1	0	0	10273	1335	47	2	168	2	NCAPD2	12	6618917	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17417	6618917	127232978	12519	20231											
NCAPD2	9918	broad.mit.edu	37	chr12	6619865	6619865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtggatcagatagaaaCgcccatctaaatgccctcaa	8	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6619865C>T	ENST00000315579.5	+	5	1132	c.333C>T	c.(331-333)aaC>aaT	p.N111N	NCAPD2_ENST00000545962.1_Silent_p.N66N	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	111	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGATAGAAACGCCCATCTAA	0.498													False	0	True	12:6619865	0	T	6619865	C	T	6619865	2	4	88	1	0	0	0	0	0	0	0	1	10273	535	19	1		1	NCAPD2	12	6619865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	948	6619865	127232030	12520	20232											
NCAPD2	9918	broad.mit.edu	37	chr12	6623541	6623541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttggtgtagccttgacccGttataaccatatgctcagta	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6623541G>A	ENST00000315579.5	+	7	1497	c.698G>A	c.(697-699)cGt>cAt	p.R233H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R188H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	233	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCCTTGACCCGTTATAACCAT	0.488													False	0	True	12:6623541	0	A	6623541	G	A	6623541	3	1	88	1	0	0	0	0	1	0	0	0	10273	1145	40	1	720	1	NCAPD2	12	6623541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3676	6623541	127228354	12521	20233											
NCAPD2	9918	broad.mit.edu	37	chr12	6626806	6626806	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccactgcagaaggagacccaGaaattacaagagatgagggc	12	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6626806G>T	ENST00000315579.5	+	12	2164	c.1365G>T	c.(1363-1365)caG>caT	p.Q455H	NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q410H	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	455	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGGAGACCCAGAAATTACAAG	0.478													False	0	True	12:6626806	0	T	6626806	G	T	6626806	3	4	88	1	0	0	0	0	1	0	0	0	10273	933	33	3	1407	3	NCAPD2	12	6626806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3265	6626806	127225089	12522	20234											
NCAPD2	9918	broad.mit.edu	37	chr12	6637024	6637024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacagaggcagaactaatcCgtggcatctgcgagatggaa	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6637024C>T	ENST00000315579.5	+	23	3788	c.2989C>T	c.(2989-2991)Cgt>Tgt	p.R997C	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.R952C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	997					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	p.R997C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGAACTAATCCGTGGCATCTG	0.493													False	0	False	12:6637024	0	T	6637024	C	T	6637024	3	4	88	1	0	0	0	0	1	0	0	0	10273	652	23	1	3075	1	NCAPD2	12	6637024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10218	6637024	127214871	12523	20235											
IFFO1	25900	broad.mit.edu	37	chr12	6664931	6664931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctcatgcaccttggCcaggaagcagcggaaccgga	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6664931C>T	ENST00000336604.4	-	1	306	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	IFFO1_ENST00000356896.4_Missense_Mutation_p.A89T|IFFO1_ENST00000396840.2_Missense_Mutation_p.A89T	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	89						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TGCACCTTGGCCAGGAAGCAG	0.687													False	0	False	12:6664931	0	T	6664931	C	T	6664931	3	4	88	1	0	0	0	0	1	0	0	0	7560	739	26	2	1466	2	IFFO1	12	6664931	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27907	6664931	127186964	12524	20236											
NOP2	4839	broad.mit.edu	37	chr12	6670153	6670153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgttggtgactcccagccGatgcaagttgcccacaacac	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6670153G>A	ENST00000541778.1	-	12	1767	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	NOP2_ENST00000537442.1_Missense_Mutation_p.R431W|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000399466.2_Missense_Mutation_p.R427W|NOP2_ENST00000322166.5_Missense_Mutation_p.R431W|NOP2_ENST00000382421.3_Missense_Mutation_p.R464W|NOP2_ENST00000545200.1_Missense_Mutation_p.R427W			P46087	NOP2_HUMAN	NOP2 nucleolar protein	431					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ACTCCCAGCCGATGCAAGTTG	0.547													False	0	False	12:6670153	0	A	6670153	G	A	6670153	3	1	88	1	0	0	0	0	1	0	0	0	10606	1057	37	1	1167	1	NOP2	12	6670153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5222	6670153	127181742	12525	20237											
CHD4	1108	broad.mit.edu	37	chr12	6687287	6687287	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccgctcttcattctgCcaaagggagtgcaactctga	10	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6687287C>T	ENST00000309577.6	-	35	5383	c.5220G>A	c.(5218-5220)tgG>tgA	p.W1740*	CHD4_ENST00000544040.1_Nonsense_Mutation_p.W1705*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.W1712*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.W1737*			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1712	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CTTCATTCTGCCAAAGGGAGT	0.488													False	0	False	12:6687287	0	T	6687287	C	T	6687287	4	4	88	1	0	0	0	0	0	1	0	0	3350	740	26	2	622	2	CHD4	12	6687287	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17134	6687287	127164608	12526	20238											
CHD4	1108	broad.mit.edu	37	chr12	6690899	6690899	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttggggagggtgaccctgGctgggacatcttcttgtttt	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6690899G>T	ENST00000309577.6	-	30	4844	c.4681C>A	c.(4681-4683)Cca>Aca	p.P1561T	CHD4_ENST00000544040.1_Missense_Mutation_p.P1526T|CHD4_ENST00000357008.2_Missense_Mutation_p.P1533T|CHD4_ENST00000544484.1_Missense_Mutation_p.P1558T|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1533					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGTGACCCTGGCTGGGACATC	0.562													False	0	True	12:6690899	0	T	6690899	G	T	6690899	3	4	88	1	0	0	0	0	1	0	0	0	3350	1203	42	3	1181	3	CHD4	12	6690899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3612	6690899	127160996	12527	20239											
CHD4	1108	broad.mit.edu	37	chr12	6700658	6700658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggtcaatggcctcttgcCgcatgttcccagtgattcca	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6700658C>T	ENST00000309577.6	-	22	3477	c.3314G>A	c.(3313-3315)cGg>cAg	p.R1105Q	CHD4_ENST00000544040.1_Missense_Mutation_p.R1098Q|CHD4_ENST00000357008.2_Missense_Mutation_p.R1105Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R1102Q			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1105	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGCCTCTTGCCGCATGTTCCC	0.433													False	0	False	12:6700658	0	T	6700658	C	T	6700658	3	4	88	1	0	0	0	0	1	0	0	0	3350	652	23	1	2500	1	CHD4	12	6700658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9759	6700658	127151237	12528	20240											
CHD4	1108	broad.mit.edu	37	chr12	6701917	6701917	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacaactcttccagattgtTttgtaatggtgtcccagtca	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6701917T>G	ENST00000309577.6	-	18	2882	c.2719A>C	c.(2719-2721)Aac>Cac	p.N907H	CHD4_ENST00000544040.1_Missense_Mutation_p.N900H|CHD4_ENST00000357008.2_Missense_Mutation_p.N907H|CHD4_ENST00000544484.1_Missense_Mutation_p.N904H			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	907	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCCAGATTGTTTTGTAATGGT	0.443													False	0	True	12:6701917	0	G	6701917	T	G	6701917	3	3	88	1	0	0	0	0	1	0	0	0	3350	1841	64	4	3111	4	CHD4	12	6701917	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1259	6701917	127149978	12529	20241											
CHD4	1108	broad.mit.edu	37	chr12	6707221	6707221	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtggctcatccatatcattCttccgctgatagtttcggaa	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6707221C>T	ENST00000309577.6	-	12	1894	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K	CHD4_ENST00000544040.1_Silent_p.K570K|CHD4_ENST00000357008.2_Silent_p.K577K|CHD4_ENST00000544484.1_Silent_p.K574K			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	577	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCATATCATTCTTCCGCTGAT	0.473													False	0	False	12:6707221	0	T	6707221	C	T	6707221	2	4	88	1	0	0	0	0	0	0	0	1	3350	912	32	2		2	CHD4	12	6707221	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5304	6707221	127144674	12530	20242											
LPAR5	57121	broad.mit.edu	37	chr12	6729583	6729583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccatcaccatcagcaCcccgcgcacgcgatcgcggg	10	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6729583C>T	ENST00000329858.4	-	2	1588	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	LPAR5_ENST00000431922.1_Missense_Mutation_p.V278M	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	278						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						ACCATCAGCACCCCGCGCACG	0.692													False	0	True	12:6729583	0	T	6729583	C	T	6729583	3	4	88	1	0	0	0	0	1	0	0	0	8970	507	18	2	290	2	LPAR5	12	6729583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22362	6729583	127122312	12531	20243											
LPAR5	57121	broad.mit.edu	37	chr12	6730346	6730346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagaccaccaagtgcagGcggtgggtaggtcggtagtc	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6730346G>A	ENST00000329858.4	-	2	825	c.69C>T	c.(67-69)cgC>cgT	p.R23R	LPAR5_ENST00000431922.1_Silent_p.R23R|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	23						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CCAAGTGCAGGCGGTGGGTAG	0.632													False	0	False	12:6730346	0	A	6730346	G	A	6730346	2	1	88	1	0	0	0	0	0	0	0	1	8970	1190	42	2		2	LPAR5	12	6730346	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	763	6730346	127121549	12532	20244											
ACRBP	84519	broad.mit.edu	37	chr12	6753468	6753468	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggaagggttagaagatagaGattcagagtgaaacttgggc	15	3	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6753468G>T	ENST00000229243.2	-	5	872	c.779C>A	c.(778-780)tCt>tAt	p.S260Y	ACRBP_ENST00000536350.1_Missense_Mutation_p.S260Y|ACRBP_ENST00000414226.2_Missense_Mutation_p.S227Y	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	260						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGAAGATAGAGATTCAGAGTG	0.517													False	0	False	12:6753468	0	T	6753468	G	T	6753468	3	4	88	1	0	0	0	0	1	0	0	0	170	942	33	3	876	3	ACRBP	12	6753468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23122	6753468	127098427	12533	20245											
MLF2	8079	broad.mit.edu	37	chr12	6858017	6858017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcaggtccctggatggCcaggcggggaggcccctccg	16	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6858017C>T	ENST00000203630.5	-	8	1335	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	MLF2_ENST00000542154.1_Missense_Mutation_p.A231T|MLF2_ENST00000435120.1_Missense_Mutation_p.A231T|MLF2_ENST00000539187.1_Missense_Mutation_p.A231T			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	231					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						CCCTGGATGGCCAGGCGGGGA	0.682													False	0	False	12:6858017	0	T	6858017	C	T	6858017	3	4	88	1	0	0	0	0	1	0	0	0	9683	739	26	2	59	2	MLF2	12	6858017	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104549	6858017	126993878	12534	20246											
CD4	920	broad.mit.edu	37	chr12	6925373	6925373	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctccaagtcttggatcacCtttgacctgaagaacaagga	8	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6925373C>A	ENST00000011653.4	+	6	1017	c.759C>A	c.(757-759)acC>acA	p.T253T	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	253	Ig-like C2-type 2.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTTGGATCACCTTTGACCTGA	0.572													False	0	True	12:6925373	0	A	6925373	C	A	6925373	2	1	88	1	0	0	0	0	0	0	0	1	3037	668	24	3		3	CD4	12	6925373	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67356	6925373	126926522	12535	20247											
CD4	920	broad.mit.edu	37	chr12	6927707	6927707	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaggtgccggcaccgaaGggtgagtaaccccacacctg	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6927707G>T	ENST00000011653.4	+	8	1535	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	426					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CGGCACCGAAGGGTGAGTAAC	0.602													False	0	True	12:6927707	0	T	6927707	G	T	6927707	5	4	88	1	0	0	0	0	0	0	1	0	3037	1014	35	3	1303	3	CD4	12	6927707	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2334	6927707	126924188	12536	20248											
CD4	920	broad.mit.edu	37	chr12	6928490	6928490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagacatgtagccccAtttgaggcacgaggccaggc	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6928490A>G	ENST00000011653.4	+	10	1630	c.1372A>G	c.(1372-1374)Att>Gtt	p.I458V		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	458					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				ATGTAGCCCCATTTGAGGCAC	0.597													False	0	True	12:6928490	0	G	6928490	A	G	6928490	3	3	88	1	0	0	0	0	1	0	0	0	3037	217	8	4	1406	4	CD4	12	6928490	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	783	6928490	126923405	12537	20249											
LEPREL2	10536	broad.mit.edu	37	chr12	6946916	6946916	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagagcaagagcagcgcatgGacctgagtcacccagtgcac	13	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6946916G>A	ENST00000251761.8	+	0	1765				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						GCAGCGCATGGACCTGAGTCA	0.647													False	0	False	12:6946916	0	A	6946916	G	A	6946916	1	1	88	0	1	0	0	0	0	0	0	0	8782	1174	41	2		2	LEPREL2	12	6946916	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18426	6946916	126904979	12538	20250											
GNB3	2784	broad.mit.edu	37	chr12	6952223	6952223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaagatttacgccatgcaCtgggccactgattctaagtg	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6952223C>A	ENST00000229264.3	+	5	591	c.186C>A	c.(184-186)caC>caA	p.H62Q	GNB3_ENST00000435982.2_Missense_Mutation_p.H62Q	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	62					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ACGCCATGCACTGGGCCACTG	0.607													False	0	False	12:6952223	0	A	6952223	C	A	6952223	3	1	88	1	0	0	0	0	1	0	0	0	6564	564	20	3	196	3	GNB3	12	6952223	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5307	6952223	126899672	12539	20251											
CDCA3	83461	broad.mit.edu	37	chr12	6958344	6958344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcactaacattttcacttaGgggtgaaggccgcttaccct	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6958344G>A	ENST00000538862.2	-	6	1571	c.670C>T	c.(670-672)Cta>Tta	p.L224L	CDCA3_ENST00000229265.6_Silent_p.L199L|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000535406.1_Silent_p.L224L|CDCA3_ENST00000540683.1_3'UTR			Q99618	CDCA3_HUMAN	cell division cycle associated 3	224					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TTTTCACTTAGGGGTGAAGGC	0.512													False	0	True	12:6958344	0	A	6958344	G	A	6958344	2	1	88	1	0	0	0	0	0	0	0	1	3110	991	35	2		2	CDCA3	12	6958344	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6121	6958344	126893551	12540	20252											
USP5	0	broad.mit.edu	37	chr12	6970734	6970734	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacggggcccctgagcaggtCgatgacttctggagcacggc	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6970734C>T	ENST00000229268.8	+	13	1678	c.1626C>T	c.(1624-1626)gtC>gtT	p.V542V	USP5_ENST00000389231.5_Silent_p.V542V|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	542					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CTGAGCAGGTCGATGACTTCT	0.622													False	0	False	12:6970734	0	T	6970734	C	T	6970734	2	4	88	1	0	0	0	0	0	0	0	1	17165	871	31	1		1	USP5	12	6970734	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12390	6970734	126881161	12541	20253											
TPI1	7167	broad.mit.edu	37	chr12	6976836	6976836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacgcggccaaggtgccgGccgacaccggtaagccctcg	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6976836G>A	ENST00000229270.4	+	1	554	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	TPI1_ENST00000396705.5_Missense_Mutation_p.A36T	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	36			G -> A (in TPI deficiency).		fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CAAGGTGCCGGCCGACACCGG	0.716													False	0	True	12:6976836	0	A	6976836	G	A	6976836	3	1	88	1	0	0	0	0	1	0	0	0	16486	1203	42	2	219	2	TPI1	12	6976836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6102	6976836	126875059	12542	20254											
TPI1	7167	broad.mit.edu	37	chr12	6979528	6979528	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagcccgaattcgtggacaTcatcaatgccaaacaatgag	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6979528T>G	ENST00000229270.4	+	7	1179	c.842T>G	c.(841-843)aTc>aGc	p.I281S	TPI1_ENST00000535434.1_Missense_Mutation_p.I162S|TPI1_ENST00000488464.2_Missense_Mutation_p.I162S|TPI1_ENST00000396705.5_Missense_Mutation_p.I244S	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	244					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TTCGTGGACATCATCAATGCC	0.577											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:6979528	0	G	6979528	T	G	6979528	3	3	88	1	0	0	0	0	1	0	0	0	16486	1435	50	4	868	4	TPI1	12	6979528	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2692	6979528	126872367	12543	20255											
ATN1	1822	broad.mit.edu	37	chr12	7045789	7045789	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctatggccgcctcttagcCaacagcaatgcccatccagg	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7045789C>A	ENST00000356654.4	+	5	1596	c.1359C>A	c.(1357-1359)gcC>gcA	p.A453A	ATN1_ENST00000396684.2_Silent_p.A453A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	453					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCCTCTTAGCCAACAGCAATG	0.622													False	0	False	12:7045789	0	A	7045789	C	A	7045789	2	1	88	1	0	0	0	0	0	0	0	1	1115	581	21	3		3	ATN1	12	7045789	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66261	7045789	126806106	12544	20256											
ATN1	1822	broad.mit.edu	37	chr12	7045981	7045981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctggagcatttccccaCccactggagggcggtagctc	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7045981C>T	ENST00000356654.4	+	5	1788	c.1551C>T	c.(1549-1551)caC>caT	p.H517H	ATN1_ENST00000396684.2_Silent_p.H517H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	517	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CATTTCCCCACCCACTGGAGG	0.657													False	0	True	12:7045981	0	T	7045981	C	T	7045981	2	4	88	1	0	0	0	0	0	0	0	1	1115	506	18	2		2	ATN1	12	7045981	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192	7045981	126805914	12545	20257											
ATN1	1822	broad.mit.edu	37	chr12	7046106	7046106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacagccaggtgtcctacaGccaagcaggccccaatggcc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7046106G>T	ENST00000356654.4	+	5	1913	c.1676G>T	c.(1675-1677)aGc>aTc	p.S559I	ATN1_ENST00000396684.2_Missense_Mutation_p.S559I	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	559	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTGTCCTACAGCCAAGCAGGC	0.622													False	0	False	12:7046106	0	T	7046106	G	T	7046106	3	4	88	1	0	0	0	0	1	0	0	0	1115	971	34	3	1690	3	ATN1	12	7046106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125	7046106	126805789	12546	20258											
ATN1	1822	broad.mit.edu	37	chr12	7047972	7047972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgaccgcctcaagcctgGctttgaggtgaagcctagtg	13	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7047972G>A	ENST00000356654.4	+	7	3083	c.2846G>A	c.(2845-2847)gGc>gAc	p.G949D	ATN1_ENST00000396684.2_Missense_Mutation_p.G949D	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	949					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTCAAGCCTGGCTTTGAGGTG	0.647													False	0	False	12:7047972	0	A	7047972	G	A	7047972	3	1	88	1	0	0	0	0	1	0	0	0	1115	1203	42	2	2868	2	ATN1	12	7047972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1866	7047972	126803923	12547	20259											
PTPN6	5777	broad.mit.edu	37	chr12	7061307	7061307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccatcatccacctcaagtAcccgctgaactgctccgatc	5	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7061307A>G	ENST00000456013.1	+	3	535	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	PTPN6_ENST00000318974.9_Missense_Mutation_p.Y98C|PTPN6_ENST00000447931.2_Missense_Mutation_p.Y59C|PTPN6_ENST00000399448.1_Missense_Mutation_p.Y100C	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	98	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CACCTCAAGTACCCGCTGAAC	0.627													False	0	True	12:7061307	0	G	7061307	A	G	7061307	3	3	88	1	0	0	0	0	1	0	0	0	12871	391	14	4	321	4	PTPN6	12	7061307	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13335	7061307	126790588	12548	20260											
PTPN6	5777	broad.mit.edu	37	chr12	7064578	7064578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcggctgacattgagaaccGagtgttggaactgaacaaga	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7064578G>A	ENST00000456013.1	+	6	919	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	PTPN6_ENST00000318974.9_Missense_Mutation_p.R226Q|PTPN6_ENST00000447931.2_Missense_Mutation_p.R187Q|PTPN6_ENST00000399448.1_Missense_Mutation_p.R228Q	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	226					apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ATTGAGAACCGAGTGTTGGAA	0.582													False	0	False	12:7064578	0	A	7064578	G	A	7064578	3	1	88	1	0	0	0	0	1	0	0	0	12871	1058	37	1	717	1	PTPN6	12	7064578	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3271	7064578	126787317	12549	20261											
PTPN6	5777	broad.mit.edu	37	chr12	7066930	7066930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaaactccgtaccttacaGgtctccccgctggacaatgt	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7066930G>T	ENST00000456013.1	+	10	1430	c.1188G>T	c.(1186-1188)caG>caT	p.Q396H	PTPN6_ENST00000318974.9_Missense_Mutation_p.Q396H|PTPN6_ENST00000447931.2_Missense_Mutation_p.Q357H|PTPN6_ENST00000399448.1_Missense_Mutation_p.Q398H	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	396	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GTACCTTACAGGTCTCCCCGC	0.607													False	0	False	12:7066930	0	T	7066930	G	T	7066930	3	4	88	1	0	0	0	0	1	0	0	0	12871	991	35	3	1244	3	PTPN6	12	7066930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2352	7066930	126784965	12550	20262											
LPCAT3	10162	broad.mit.edu	37	chr12	7091893	7091893	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcggcccattagtcgaaGgatgaggaactgaagcacaa	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7091893G>T	ENST00000261407.4	-	3	395	c.310C>A	c.(310-312)Ctt>Att	p.L104I		NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	104					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						ATTAGTCGAAGGATGAGGAAC	0.517													False	0	False	12:7091893	0	T	7091893	G	T	7091893	3	4	88	1	0	0	0	0	1	0	0	0	8974	1000	35	3	1193	3	LPCAT3	12	7091893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24963	7091893	126760002	12551	20263											
C1S	716	broad.mit.edu	37	chr12	7169900	7169900	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagagaaatcttgggacataGaagttcctgaagggtatggg	14	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7169900G>T	ENST00000406697.1	+	6	755	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	C1S_ENST00000360817.5_Nonsense_Mutation_p.E43*|C1S_ENST00000402681.3_Intron|C1S_ENST00000328916.3_Nonsense_Mutation_p.E43*			P09871	C1S_HUMAN	complement component 1, s subcomponent	43	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTGGGACATAGAAGTTCCTGA	0.473													False	0	False	12:7169900	0	T	7169900	G	T	7169900	4	4	88	1	0	0	0	0	0	1	0	0	1989	943	33	3	133	3	C1S	12	7169900	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78007	7169900	126681995	12552	20264											
C1S	716	broad.mit.edu	37	chr12	7173250	7173250	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taacagggcaaaaaaagggcTggaaacttcgctatcatgga	11	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7173250T>C	ENST00000406697.1	+	10	1475	c.847T>C	c.(847-849)Tgg>Cgg	p.W283R	C1S_ENST00000360817.5_Missense_Mutation_p.W283R|C1S_ENST00000402681.3_Missense_Mutation_p.W116R|C1S_ENST00000328916.3_Missense_Mutation_p.W283R			P09871	C1S_HUMAN	complement component 1, s subcomponent	283	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AAAAAAGGGCTGGAAACTTCG	0.428													False	0	False	12:7173250	0	C	7173250	T	C	7173250	3	2	88	1	0	0	0	0	1	0	0	0	1989	1580	55	4	869	4	C1S	12	7173250	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3350	7173250	126678645	12553	20265											
C1S	716	broad.mit.edu	37	chr12	7177355	7177355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaatgtatgttgggtcCacctcagtgcagacctcacg	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7177355C>T	ENST00000406697.1	+	15	2095	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Silent_p.S489S|C1S_ENST00000402681.3_Silent_p.S322S|C1S_ENST00000328916.3_Silent_p.S489S			P09871	C1S_HUMAN	complement component 1, s subcomponent	489	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATGTTGGGTCCACCTCAGTGC	0.537													False	0	False	12:7177355	0	T	7177355	C	T	7177355	2	4	88	1	0	0	0	0	0	0	0	1	1989	581	21	2		2	C1S	12	7177355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4105	7177355	126674540	12554	20266											
C1S	716	broad.mit.edu	37	chr12	7177578	7177578	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaacctcatggatggggacCtgggactgatctcaggctgg	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7177578C>A	ENST00000406697.1	+	15	2318	c.1690C>A	c.(1690-1692)Ctg>Atg	p.L564M	C1S_ENST00000360817.5_Missense_Mutation_p.L564M|C1S_ENST00000402681.3_Missense_Mutation_p.L397M|C1S_ENST00000328916.3_Missense_Mutation_p.L564M			P09871	C1S_HUMAN	complement component 1, s subcomponent	564	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGATGGGGACCTGGGACTGAT	0.552													False	0	False	12:7177578	0	A	7177578	C	A	7177578	3	1	88	1	0	0	0	0	1	0	0	0	1989	680	24	3	1732	3	C1S	12	7177578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	223	7177578	126674317	12555	20267											
C1RL	51279	broad.mit.edu	37	chr12	7249062	7249062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtagaagtcatacccttcGccacaccctatgccccagga	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7249062G>A	ENST00000266542.4	-	6	1481	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	463	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CATACCCTTCGCCACACCCTA	0.562													False	0	False	12:7249062	0	A	7249062	G	A	7249062	2	1	88	1	0	0	0	0	0	0	0	1	1988	1074	38	1		1	C1RL	12	7249062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71484	7249062	126602833	12556	20268											
CLSTN3	9746	broad.mit.edu	37	chr12	7288002	7288002	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtatcgtgcggctgtgAcagaggggaagctgtacgat	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7288002A>T	ENST00000537408.1	+	3	1037	c.499A>T	c.(499-501)Aca>Tca	p.T167S	CLSTN3_ENST00000266546.6_Missense_Mutation_p.T155S			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	155	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGCGGCTGTGACAGAGGGGAA	0.567													False	0	False	12:7288002	0	T	7288002	A	T	7288002	3	4	88	1	0	0	0	0	1	0	0	0	3586	275	10	5	477	5	CLSTN3	12	7288002	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38940	7288002	126563893	12557	20269											
CLSTN3	9746	broad.mit.edu	37	chr12	7310163	7310163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgtcctgggcctggtgcGcatccattcccttcaccgcc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7310163G>A	ENST00000537408.1	+	16	3180	c.2642G>A	c.(2641-2643)cGc>cAc	p.R881H	CLSTN3_ENST00000266546.6_Missense_Mutation_p.R869H|CLSTN3_ENST00000331148.5_3'UTR			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	869					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGCCTGGTGCGCATCCATTCC	0.662													False	0	False	12:7310163	0	A	7310163	G	A	7310163	3	1	88	1	0	0	0	0	1	0	0	0	3586	1087	38	1	2672	1	CLSTN3	12	7310163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22161	7310163	126541732	12558	20270											
PEX5	5830	broad.mit.edu	37	chr12	7361053	7361053	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccatccctgatcaaacagGtgtctggagctaaagccaga	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7361053G>T	ENST00000266563.5	+	12	1254	c.1071G>T	c.(1069-1071)agG>agT	p.R357S	PEX5_ENST00000266564.3_Splice_Site_p.R386S|PEX5_ENST00000455147.2_Splice_Site_p.R394S|PEX5_ENST00000434354.2_Splice_Site_p.R409S|PEX5_ENST00000412720.2_Splice_Site_p.R415S|PEX5_ENST00000420616.2_Splice_Site_p.R394S	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	394					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GATCAAACAGGTGTCTGGAGC	0.537													False	0	False	12:7361053	0	T	7361053	G	T	7361053	5	4	88	1	0	0	0	0	0	0	1	0	11817	1275	44	3	1273	3	PEX5	12	7361053	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50890	7361053	126490842	12559	20271											
ACSM4	341392	broad.mit.edu	37	chr12	7459295	7459295	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttggccgtgattctgcccaGaatccctgagtggtggctgg	14	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7459295G>T	ENST00000399422.4	+	2	416	c.368G>T	c.(367-369)aGa>aTa	p.R123I		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	123					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATTCTGCCCAGAATCCCTGAG	0.512													False	0	False	12:7459295	0	T	7459295	G	T	7459295	3	4	88	1	0	0	0	0	1	0	0	0	186	942	33	3	374	3	ACSM4	12	7459295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98242	7459295	126392600	12560	20272											
CD163L1	283316	broad.mit.edu	37	chr12	7531634	7531634	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgtttccactcccatcGtatacaatcccagagagagg	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7531634G>A	ENST00000313599.3	-	9	2368	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.R781*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.R771*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	771	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R771*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACTCCCATCGTATACAATCC	0.408													False	0	False	12:7531634	0	A	7531634	G	A	7531634	4	1	88	1	0	0	0	0	0	1	0	0	2991	1153	40	1	2094	1	CD163L1	12	7531634	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72339	7531634	126320261	12561	20273											
CD163L1	283316	broad.mit.edu	37	chr12	7531717	7531717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttctttctgtgaaatgaGgctctctggagaccctgatt	10	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7531717G>A	ENST00000313599.3	-	9	2285	c.2228C>T	c.(2227-2229)cCt>cTt	p.P743L	CD163L1_ENST00000544331.1_Intron|CD163L1_ENST00000416109.2_Missense_Mutation_p.P753L|CD163L1_ENST00000396630.1_Missense_Mutation_p.P743L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	743	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTGAAATGAGGCTCTCTGGA	0.483													False	0	False	12:7531717	0	A	7531717	G	A	7531717	3	1	88	1	0	0	0	0	1	0	0	0	2991	1000	35	2	2177	2	CD163L1	12	7531717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	7531717	126320178	12562	20274											
CD163L1	283316	broad.mit.edu	37	chr12	7559140	7559140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcttacctgagcagatcaCagacacatcgttttgatgaa	8	9	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7559140C>T	ENST00000313599.3	-	5	1132	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	CD163L1_ENST00000416109.2_Missense_Mutation_p.V369M|CD163L1_ENST00000396630.1_Missense_Mutation_p.V359M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	359	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GAGCAGATCACAGACACATCG	0.403													False	0	False	12:7559140	0	T	7559140	C	T	7559140	3	4	88	1	0	0	0	0	1	0	0	0	2991	478	17	2	3346	2	CD163L1	12	7559140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27423	7559140	126292755	12563	20275											
CD163L1	283316	broad.mit.edu	37	chr12	7559320	7559320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcccaactgcttgcataCgacatcagctgcagcattgt	7	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7559320C>T	ENST00000313599.3	-	5	952	c.895G>A	c.(895-897)Gta>Ata	p.V299I	CD163L1_ENST00000416109.2_Missense_Mutation_p.V309I|CD163L1_ENST00000396630.1_Missense_Mutation_p.V299I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	299	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCTTGCATACGACATCAGCT	0.522													False	0	False	12:7559320	0	T	7559320	C	T	7559320	3	4	88	1	0	0	0	0	1	0	0	0	2991	536	19	1	3526	1	CD163L1	12	7559320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180	7559320	126292575	12564	20276											
CD163	9332	broad.mit.edu	37	chr12	7639264	7639264	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggcattaatggcctcTccacagcccagctgtctgca	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7639264T>A	ENST00000359156.4	-	10	2491	c.2289A>T	c.(2287-2289)ggA>ggT	p.G763G	CD163_ENST00000432237.2_Silent_p.G763G|CD163_ENST00000396620.3_Silent_p.G796G|CD163_ENST00000541972.1_Silent_p.G751G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	763	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TAATGGCCTCTCCACAGCCCA	0.537													False	0	False	12:7639264	0	A	7639264	T	A	7639264	2	1	88	1	0	0	0	0	0	0	0	1	2990	1538	54	5		5	CD163	12	7639264	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79944	7639264	126212631	12565	20277											
CD163	9332	broad.mit.edu	37	chr12	7640253	7640253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcttgccattcaccaaGcgaatttctgtgtatcctgg	11	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7640253G>A	ENST00000359156.4	-	8	1954	c.1752C>T	c.(1750-1752)cgC>cgT	p.R584R	CD163_ENST00000432237.2_Silent_p.R584R|CD163_ENST00000396620.3_Silent_p.R617R|CD163_ENST00000541972.1_Silent_p.R572R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	584	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CATTCACCAAGCGAATTTCTG	0.498													False	0	False	12:7640253	0	A	7640253	G	A	7640253	2	1	88	1	0	0	0	0	0	0	0	1	2990	958	34	2		2	CD163	12	7640253	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	989	7640253	126211642	12566	20278											
SLC2A14	144195	broad.mit.edu	37	chr12	7982451	7982451	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcgagatctctccaatgtAcatgggcacaaaacctgtgc	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7982451A>G	ENST00000543909.1	-	10	1252	c.493T>C	c.(493-495)Tac>Cac	p.Y165H	SLC2A14_ENST00000396589.2_Missense_Mutation_p.Y165H|SLC2A14_ENST00000535295.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000539924.1_Missense_Mutation_p.Y180H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.Y56H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.Y142H|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.Y142H			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	165					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TCTCCAATGTACATGGGCACA	0.512													False	0	False	12:7982451	0	G	7982451	A	G	7982451	3	3	88	1	0	0	0	0	1	0	0	0	14623	391	14	4	1097	4	SLC2A14	12	7982451	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	342198	7982451	125869444	12567	20279											
SLC2A14	144195	broad.mit.edu	37	chr12	7985383	7985383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagccgattgtagcaactgTgatggcaaagatcagagctg	13	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7985383T>C	ENST00000543909.1	-	8	874	c.115A>G	c.(115-117)Aca>Gca	p.T39A	SLC2A14_ENST00000396589.2_Missense_Mutation_p.T39A|SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000539924.1_Missense_Mutation_p.T54A|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000340749.5_Missense_Mutation_p.T16A|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T16A			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	39					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTAGCAACTGTGATGGCAAAG	0.453											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:7985383	0	C	7985383	T	C	7985383	3	2	88	1	0	0	0	0	1	0	0	0	14623	1696	59	4	1483	4	SLC2A14	12	7985383	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2932	7985383	125866512	12568	20280											
SLC2A3	6515	broad.mit.edu	37	chr12	8083844	8083844	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaagttctagagtacctgGgccaccagaattccaacaac	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8083844G>T	ENST00000075120.7	-	4	747	c.507C>A	c.(505-507)gcC>gcA	p.A169A		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	169					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AGAGTACCTGGGCCACCAGAA	0.458													False	0	True	12:8083844	0	T	8083844	G	T	8083844	2	4	88	1	0	0	0	0	0	0	0	1	14625	1219	43	3		3	SLC2A3	12	8083844	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98461	8083844	125768051	12569	20281											
SLC2A3	6515	broad.mit.edu	37	chr12	8083913	8083913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccccgcagggcagtaggCgagatctctccaatgtacat	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8083913C>T	ENST00000075120.7	-	4	678	c.438G>A	c.(436-438)tcG>tcA	p.S146S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	146					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGGCAGTAGGCGAGATCTCTC	0.517													False	0	False	12:8083913	0	T	8083913	C	T	8083913	2	4	88	1	0	0	0	0	0	0	0	1	14625	755	27	1		1	SLC2A3	12	8083913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	8083913	125767982	12570	20282											
FOXJ2	55810	broad.mit.edu	37	chr12	8203160	8203160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccccacctctaccctgGcccatcaccaatgtacccaa	4	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8203160G>A	ENST00000162391.3	+	10	2725	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	527					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTCTACCCTGGCCCATCACCA	0.522													False	0	True	12:8203160	0	A	8203160	G	A	8203160	3	1	88	1	0	0	0	0	1	0	0	0	6054	1203	42	2	1614	2	FOXJ2	12	8203160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119247	8203160	125648735	12571	20283											
C3AR1	719	broad.mit.edu	37	chr12	8211461	8211461	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttgctttcttcctaaaatCtttccccaagagggcataaa	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8211461C>A	ENST00000307637.4	-	2	1524	c.1321G>T	c.(1321-1323)Gat>Tat	p.D441Y		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	441					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTCCTAAAATCTTTCCCCAAG	0.478													False	0	True	12:8211461	0	A	8211461	C	A	8211461	3	1	88	1	0	0	0	0	1	0	0	0	2221	913	32	3	131	3	C3AR1	12	8211461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8301	8211461	125640434	12572	20284											
C3AR1	719	broad.mit.edu	37	chr12	8212009	8212009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcagcaggtttaaatAcattagaatacagattttga	6	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8212009A>G	ENST00000307637.4	-	2	976	c.773T>C	c.(772-774)gTa>gCa	p.V258A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	258					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGTTTAAATACATTAGAATA	0.433													False	0	False	12:8212009	0	G	8212009	A	G	8212009	3	3	88	1	0	0	0	0	1	0	0	0	2221	391	14	4	679	4	C3AR1	12	8212009	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	548	8212009	125639886	12573	20285											
CLEC4A	50856	broad.mit.edu	37	chr12	8290773	8290773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccagtgatcccaatgagCgctgcgttgtgctaaatttt	10	10	0	2	rs142973159	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8290773C>T	ENST00000229332.5	+	6	851	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	CLEC4A_ENST00000352620.3_Missense_Mutation_p.R169C|CLEC4A_ENST00000360500.3_Missense_Mutation_p.R163C|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R130C	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	202	C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TCCCAATGAGCGCTGCGTTGT	0.438													False	0	False	12:8290773	0	T	8290773	C	T	8290773	3	4	88	1	0	0	0	0	1	0	0	0	3535	768	27	1	626	1	CLEC4A	12	8290773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78764	8290773	125561122	12574	20286											
CLEC4E	26253	broad.mit.edu	37	chr12	8691851	8691851	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagagctctgtgaaattcTcaggtagctgaaactttttc	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8691851T>G	ENST00000299663.3	-	3	347	c.182A>C	c.(181-183)gAg>gCg	p.E61A	CLEC4E_ENST00000545274.1_Missense_Mutation_p.E61A|CLEC4E_ENST00000446457.2_Missense_Mutation_p.E61A	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	61						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGTGAAATTCTCAGGTAGCTG	0.348													False	0	False	12:8691851	0	G	8691851	T	G	8691851	3	3	88	1	0	0	0	0	1	0	0	0	3538	1551	54	4	493	4	CLEC4E	12	8691851	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	401078	8691851	125160044	12575	20287											
RIMKLB	57494	broad.mit.edu	37	chr12	8926260	8926260	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgacaacatgagtgcaagTtccagctctgttgacagcga	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8926260T>G	ENST00000357529.3	+	7	2303	c.1041T>G	c.(1039-1041)agT>agG	p.S347R	RIMKLB_ENST00000538135.1_Missense_Mutation_p.S347R|RIMKLB_ENST00000535829.1_Missense_Mutation_p.S347R|RIMKLB_ENST00000299673.5_Intron	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	347					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGAGTGCAAGTTCCAGCTCTG	0.587													False	0	False	12:8926260	0	G	8926260	T	G	8926260	3	3	88	1	0	0	0	0	1	0	0	0	13445	1722	60	4	1059	4	RIMKLB	12	8926260	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234409	8926260	124925635	12576	20288											
RIMKLB	57494	broad.mit.edu	37	chr12	8926329	8926329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagctcccagggggcctGttcaacatgaaccagctgct	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8926329G>A	ENST00000357529.3	+	7	2372	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	RIMKLB_ENST00000538135.1_Silent_p.L370L|RIMKLB_ENST00000535829.1_Silent_p.L370L|RIMKLB_ENST00000299673.5_Intron	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	370					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGGGGGCCTGTTCAACATGA	0.493													False	0	False	12:8926329	0	A	8926329	G	A	8926329	2	1	88	1	0	0	0	0	0	0	0	1	13445	1364	48	2		2	RIMKLB	12	8926329	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	8926329	124925566	12577	20289											
A2ML1	144568	broad.mit.edu	37	chr12	8975302	8975302	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatcaccagccattgcagaaGaacttccgtgagtgcttggt	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8975302G>T	ENST00000299698.7	+	1	235	c.55G>T	c.(55-57)Gaa>Taa	p.E19*	A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CATTGCAGAAGAACTTCCGTG	0.483													False	0	False	12:8975302	0	T	8975302	G	T	8975302	4	4	88	1	0	0	0	0	0	1	0	0	5	943	33	3	57	3	A2ML1	12	8975302	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48973	8975302	124876593	12578	20290											
A2ML1	144568	broad.mit.edu	37	chr12	9002321	9002321	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagccagtagattgcagTcacagatctccagaatacag	9	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9002321T>C	ENST00000299698.7	+	17	2265	c.2085T>C	c.(2083-2085)agT>agC	p.S695S	A2ML1_ENST00000539547.1_Silent_p.S204S	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	539						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TAGATTGCAGTCACAGATCTC	0.473													False	0	False	12:9002321	0	C	9002321	T	C	9002321	2	2	88	1	0	0	0	0	0	0	0	1	5	1664	58	4		4	A2ML1	12	9002321	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27019	9002321	124849574	12579	20291											
A2ML1	144568	broad.mit.edu	37	chr12	9009783	9009783	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acattatgggcacagccctgCagaacctggatggtctggtg	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9009783C>T	ENST00000299698.7	+	24	3052	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*	A2ML1_ENST00000539547.1_Nonsense_Mutation_p.Q467*	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	802						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CACAGCCCTGCAGAACCTGGA	0.517													False	0	False	12:9009783	0	T	9009783	C	T	9009783	4	4	88	1	0	0	0	0	0	1	0	0	5	711	25	2	2966	2	A2ML1	12	9009783	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7462	9009783	124842112	12580	20292											
A2ML1	144568	broad.mit.edu	37	chr12	9010616	9010616	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatcccaagaacatccaggAtgctctcaagtggatggcag	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9010616A>C	ENST00000299698.7	+	26	3362	c.3182A>C	c.(3181-3183)gAt>gCt	p.D1061A	A2ML1_ENST00000539547.1_Missense_Mutation_p.D570A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	905						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AACATCCAGGATGCTCTCAAG	0.488													False	0	False	12:9010616	0	C	9010616	A	C	9010616	3	2	88	1	0	0	0	0	1	0	0	0	5	333	12	4	3284	4	A2ML1	12	9010616	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	833	9010616	124841279	12581	20293											
A2ML1	144568	broad.mit.edu	37	chr12	9016434	9016434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctactccatcatcgaacGccagcccttggtctgagcct	7	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9016434G>A	ENST00000299698.7	+	29	3727	c.3547G>A	c.(3547-3549)Gcc>Acc	p.A1183T	A2ML1_ENST00000539547.1_Missense_Mutation_p.A692T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1027						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATCATCGAACGCCAGCCCTTG	0.488													False	0	False	12:9016434	0	A	9016434	G	A	9016434	3	1	88	1	0	0	0	0	1	0	0	0	5	1087	38	1	3661	1	A2ML1	12	9016434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5818	9016434	124835461	12582	20294											
A2ML1	144568	broad.mit.edu	37	chr12	9020513	9020513	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catctgaggagatcaacctgGttgtaaaatccactgagaat	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9020513G>T	ENST00000299698.7	+	30	3973	c.3793G>T	c.(3793-3795)Gtt>Ttt	p.V1265F	A2ML1_ENST00000539547.1_Missense_Mutation_p.V774F	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1109						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GATCAACCTGGTTGTAAAATC	0.453													False	0	False	12:9020513	0	T	9020513	G	T	9020513	3	4	88	1	0	0	0	0	1	0	0	0	5	1261	44	3	3911	3	A2ML1	12	9020513	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4079	9020513	124831382	12583	20295											
PHC1	1911	broad.mit.edu	37	chr12	9089850	9089850	+	Silent	SNP	C	C	T													caagaagccaactatgctcgCgttcgcaggcgtggaccccg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9089850C>T	ENST00000433083.2	+	12	2566	c.2421C>T	c.(2419-2421)cgC>cgT	p.R807R	PHC1_ENST00000543824.1_Silent_p.R852R|PHC1_ENST00000544916.1_Silent_p.R852R|PHC1_ENST00000536844.1_Silent_p.R458R			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	852					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACTATGCTCGCGTTCGCAGGC	0.537													False	0	False	12:9089850	0	T	9089850	C	T	9089850	2	4	88	1	0	0	0	0	0	0	0	1	11885	755	27	1		1	PHC1	12	9089850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69337	9089850	124762045	12584	20296	228	2									
PHC1	1911	broad.mit.edu	37	chr12	9089855	9089855	+	Missense_Mutation	SNP	G	G	A													agccaactatgctcgcgttcGcaggcgtggaccccgccgca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9089855G>A	ENST00000433083.2	+	12	2571	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H	PHC1_ENST00000543824.1_Missense_Mutation_p.R854H|PHC1_ENST00000544916.1_Missense_Mutation_p.R854H|PHC1_ENST00000536844.1_Missense_Mutation_p.R460H			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	854					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	p.R854H(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GCTCGCGTTCGCAGGCGTGGA	0.537													False	0	False	12:9089855	0	A	9089855	G	A	9089855	3	1	88	1	0	0	0	0	1	0	0	0	11885	1087	38	1	2607	1	PHC1	12	9089855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	9089855	124762040	12585	20297	228	2									
A2M	2	broad.mit.edu	37	chr12	9225459	9225459	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagagcatggagagccacCactgtgtcctgttagagaca	12	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9225459C>A	ENST00000318602.7	-	30	4072	c.3765G>T	c.(3763-3765)gtG>gtT	p.V1255V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1255					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGAGAGCCACCACTGTGTCCT	0.483													False	0	False	12:9225459	0	A	9225459	C	A	9225459	2	1	88	1	0	0	0	0	0	0	0	1	4	581	21	3		3	A2M	12	9225459	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135604	9225459	124626436	12586	20298											
A2M	2	broad.mit.edu	37	chr12	9243824	9243824	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catttgggaaggtagtttagGaccgtggccttgagtgtgaa	15	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9243824G>T	ENST00000318602.7	-	19	2749	c.2442C>A	c.(2440-2442)gtC>gtA	p.V814V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	814					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGTAGTTTAGGACCGTGGCCT	0.463													False	0	False	12:9243824	0	T	9243824	G	T	9243824	2	4	88	1	0	0	0	0	0	0	0	1	4	1161	41	3		3	A2M	12	9243824	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18365	9243824	124608071	12587	20299											
A2M	2	broad.mit.edu	37	chr12	9252027	9252027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgcagaatccccaatcaCgtccccggtaggtaaaacag	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9252027C>T	ENST00000318602.7	-	14	1958	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	551					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TCCCCAATCACGTCCCCGGTA	0.428													False	0	False	12:9252027	0	T	9252027	C	T	9252027	3	4	88	1	0	0	0	0	1	0	0	0	4	536	19	1	2865	1	A2M	12	9252027	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8203	9252027	124599868	12588	20300											
PZP	5858	broad.mit.edu	37	chr12	9317762	9317762	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	catttgggaaggtagtttagGaccgtggccttgagtgtgaa	15	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9317762G>T	ENST00000261336.2	-	19	2488	c.2460C>A	c.(2458-2460)gtC>gtA	p.V820V	PZP_ENST00000381997.2_Silent_p.V689V|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGTAGTTTAGGACCGTGGCCT	0.493													False	0	False	12:9317762	0	T	9317762	G	T	9317762	2	4	88	1	0	0	0	0	0	0	0	1	12948	1161	41	3		3	PZP	12	9317762	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65735	9317762	124534133	12589	20301											
PZP	5858	broad.mit.edu	37	chr12	9354925	9354925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatgcttaccagttcatttCgagggcgaaaattttcatcc	9	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9354925C>T	ENST00000261336.2	-	4	498	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	PZP_ENST00000381997.2_Missense_Mutation_p.R26Q	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CAGTTCATTTCGAGGGCGAAA	0.433													False	0	True	12:9354925	0	T	9354925	C	T	9354925	3	4	88	1	0	0	0	0	1	0	0	0	12948	884	31	1	4110	1	PZP	12	9354925	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37163	9354925	124496970	12590	20302											
CLECL1	160365	broad.mit.edu	37	chr12	9875328	9875328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaagatttcttagtttcaGcaatccagtaacattttccc	4	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9875328G>T	ENST00000327839.3	-	2	432	c.398C>A	c.(397-399)gCt>gAt	p.A133D		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	133	C-type lectin; atypical.					integral to membrane|plasma membrane	sugar binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						CTTAGTTTCAGCAATCCAGTA	0.358													False	0	False	12:9875328	0	T	9875328	G	T	9875328	3	4	88	1	0	0	0	0	1	0	0	0	3546	971	34	3	109	3	CLECL1	12	9875328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	520403	9875328	123976567	12591	20303											
CLEC2B	9976	broad.mit.edu	37	chr12	10005919	10005919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagtgtattcttttcctgcAaatccattttctttcggtgt	6	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10005919A>G	ENST00000228438.2	-	5	1363	c.430T>C	c.(430-432)Tgc>Cgc	p.C144R	CLEC2B_ENST00000538152.1_Missense_Mutation_p.C75R	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	144	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						CTTTTCCTGCAAATCCATTTT	0.368													False	0	True	12:10005919	0	G	10005919	A	G	10005919	3	3	88	1	0	0	0	0	1	0	0	0	3530	130	5	4	23	4	CLEC2B	12	10005919	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	130591	10005919	123845976	12592	20304											
CLEC12A	160364	broad.mit.edu	37	chr12	10134657	10134657	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagatcatatgactattgGctgggattatctcctgaaga	10	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10134657G>A	ENST00000304361.4	+	5	752	c.570G>A	c.(568-570)tgG>tgA	p.W190*	CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.W157*|CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.W200*|CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.W190*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	190	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						ATGACTATTGGCTGGGATTAT	0.338													False	0	False	12:10134657	0	A	10134657	G	A	10134657	4	1	88	1	0	0	0	0	0	1	0	0	3520	1212	42	2	588	2	CLEC12A	12	10134657	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128738	10134657	123717238	12593	20305											
CLEC12B	387837	broad.mit.edu	37	chr12	10167267	10167267	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaggaatttctcaagtcacaGatctccagtgtactgaagag	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10167267G>T	ENST00000396502.1	+	3	464	c.336G>T	c.(334-336)caG>caT	p.Q112H	CLEC12B_ENST00000338896.5_Missense_Mutation_p.Q112H	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	112						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TCAAGTCACAGATCTCCAGTG	0.458													False	0	False	12:10167267	0	T	10167267	G	T	10167267	3	4	88	1	0	0	0	0	1	0	0	0	3521	933	33	3	346	3	CLEC12B	12	10167267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32610	10167267	123684628	12594	20306											
CLEC12B	387837	broad.mit.edu	37	chr12	10168006	10168007	+	Splice_Site	INS	-	-	AAATTATACCCAATAATATAAACTGAAGAC													agacagtttggaagaaaaggINStaggattgagtctcattctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10168006_10168007insAAATTATACCCAATAATATAAACTGAAGAC	ENST00000396502.1	+	4	692		c.e4+1		RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Splice_Site	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B							integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						GGAAGAAAAGGTAGGATTGAGT	0.361													False	0	False	12:10168006	0	AAATTATACCCAATAATATAAACTGAAGAC	10168007	-	AAATTATACCCAATAATATAAACTGAAGAC	10168006	8	5	88	1	0	1	1	0	0	0	1	0	3521	1275	44	0	579	0	CLEC12B	12	10168006	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	739	10168006	123683889	12595	20307											
CLEC12B	387837	broad.mit.edu	37	chr12	10168306	10168306	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttggttctgggaagatggCtctgttccctctccatcctt	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10168306C>A	ENST00000396502.1	+	5	788	c.660C>A	c.(658-660)ggC>ggA	p.G220G	CLEC12B_ENST00000338896.5_Silent_p.G220G|RP11-133L14.5_ENST00000544225.1_RNA	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	220	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						GGGAAGATGGCTCTGTTCCCT	0.408													False	0	False	12:10168306	0	A	10168306	C	A	10168306	2	1	88	1	0	0	0	0	0	0	0	1	3521	784	28	3		3	CLEC12B	12	10168306	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	300	10168306	123683589	12596	20308											
CLEC9A	283420	broad.mit.edu	37	chr12	10206926	10206926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcatgggattattaacaGcatccattttcttgggcgtc	9	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10206926G>A	ENST00000355819.1	+	5	761	c.148G>A	c.(148-150)Gca>Aca	p.A50T		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	50					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						ATTATTAACAGCATCCATTTT	0.323													False	0	False	12:10206926	0	A	10206926	G	A	10206926	3	1	88	1	0	0	0	0	1	0	0	0	3545	971	34	2	154	2	CLEC9A	12	10206926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38620	10206926	123644969	12597	20309											
GABARAPL1	23710	broad.mit.edu	37	chr12	10374440	10374440	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctacagtgatgagagtgtcTatgggaaatgagtggttgga	15	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10374440T>C	ENST00000546017.1	+	4	1012	c.73T>C	c.(73-75)Tat>Cat	p.Y25H	GABARAPL1_ENST00000545887.1_Missense_Mutation_p.Y115H|GABARAPL1_ENST00000535576.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000266458.5_Missense_Mutation_p.Y115H|GABARAPL1_ENST00000544284.1_Missense_Mutation_p.Y25H|GABARAPL1_ENST00000539170.1_Missense_Mutation_p.Y25H			Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	115						autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding			NS(1)|lung(1)	2						TGAGAGTGTCTATGGGAAATG	0.498													False	0	False	12:10374440	0	C	10374440	T	C	10374440	3	2	88	1	0	0	0	0	1	0	0	0	6195	1522	53	4	357	4	GABARAPL1	12	10374440	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	167514	10374440	123477455	12598	20310											
KLRC3	3823	broad.mit.edu	37	chr12	10568293	10568293	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcgctttaattctaaagcTtatgctcacaatgattcttg	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10568293T>G	ENST00000381903.2	-	6	687	c.688A>C	c.(688-690)Agc>Cgc	p.S230R	NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000396439.2_Intron|KLRC3_ENST00000381904.2_Intron	NM_007333.2	NP_031359.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ATTCTAAAGCTTATGCTCACA	0.343													False	0	False	12:10568293	0	G	10568293	T	G	10568293	3	3	88	1	0	0	0	0	1	0	0	0	8467	1609	56	4	138	4	KLRC3	12	10568293	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	193853	10568293	123283602	12599	20311											
MAGOHB	55110	broad.mit.edu	37	chr12	10762505	10762505	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcactgtcatcaataattctCttcagttcttccattacact	2	12	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10762505C>A	ENST00000320756.2	-	3	279	c.189G>T	c.(187-189)aaG>aaT	p.K63N	MAGOHB_ENST00000381881.2_Intron|MAGOHB_ENST00000539554.1_Missense_Mutation_p.K17N	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	63					mRNA processing|mRNA transport|RNA splicing	nucleus	RNA binding			breast(2)|large_intestine(2)	4						CAATAATTCTCTTCAGTTCTT	0.373													False	0	False	12:10762505	0	A	10762505	C	A	10762505	3	1	88	1	0	0	0	0	1	0	0	0	9262	912	32	3	269	3	MAGOHB	12	10762505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	194212	10762505	123089390	12600	20312											
STYK1	55359	broad.mit.edu	37	chr12	10774566	10774566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggacttcaggatacggtgGtgctcctgtcattacgaaaa	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10774566G>A	ENST00000075503.3	-	10	1493	c.973C>T	c.(973-975)Cca>Tca	p.P325S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	325	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGATACGGTGGTGCTCCTGTC	0.423										HNSCC(73;0.22)			False	0	False	12:10774566	0	A	10774566	G	A	10774566	3	1	88	1	0	0	0	0	1	0	0	0	15441	1261	44	2	303	2	STYK1	12	10774566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12061	10774566	123077329	12601	20313											
TAS2R9	50835	broad.mit.edu	37	chr12	10962247	10962247	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cattctttggaacactaataAttaaagagataagaaaggac	7	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10962247A>C	ENST00000240691.2	-	1	520	c.428T>G	c.(427-429)aTt>aGt	p.I143S		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	143					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AACACTAATAATTAAAGAGAT	0.358													False	0	False	12:10962247	0	C	10962247	A	C	10962247	3	2	88	1	0	0	0	0	1	0	0	0	15670	101	4	4	514	4	TAS2R9	12	10962247	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	187681	10962247	122889648	12602	20314											
TAS2R9	50835	broad.mit.edu	37	chr12	10962425	10962425	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagacaacattcacaaTgcttactagcacgctattgc	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10962425T>C	ENST00000240691.2	-	1	342	c.250A>G	c.(250-252)Att>Gtt	p.I84V		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	84					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACATTCACAATGCTTACTAGC	0.408													False	0	False	12:10962425	0	C	10962425	T	C	10962425	3	2	88	1	0	0	0	0	1	0	0	0	15670	1464	51	4	692	4	TAS2R9	12	10962425	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	178	10962425	122889470	12603	20315											
TAS2R10	50839	broad.mit.edu	37	chr12	10978550	10978550	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatttgctatcttcaggaAatagaagatgctgaggctgg	11	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10978550A>C	ENST00000240619.2	-	1	407	c.319T>G	c.(319-321)Ttc>Gtc	p.F107V		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	107					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATCTTCAGGAAATAGAAGATG	0.343													False	0	True	12:10978550	0	C	10978550	A	C	10978550	3	2	88	1	0	0	0	0	1	0	0	0	15648	14	1	4	608	4	TAS2R10	12	10978550	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16125	10978550	122873345	12604	20316											
TAS2R13	50838	broad.mit.edu	37	chr12	11061627	11061628	+	Frame_Shift_Ins	INS	-	-	ACAACTTGGAATT													agattgaagtgattagaaacINStatccagctaaaaatcataa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11061627_11061628insACAACTTGGAATT	ENST00000390677.2	-	1	533_534	c.270_271insAATTCCAAGTTGT	c.(268-273)atagttfs	p.V91fs	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	91					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGATTAGAAACTATCCAGCTAA	0.361													False	0	False	12:11061627	0	ACAACTTGGAATT	11061628	-	ACAACTTGGAATT	11061627	7	5	88	1	0	1	1	0	0	0	0	0	15649	565	20	0	644	0	TAS2R13	12	11061627	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	83077	11061627	122790268	12605	20317											
TAS2R14	50840	broad.mit.edu	37	chr12	11091357	11091357	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatactggcatttatatgGatgtttatcagtgcaatatt	8	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11091357G>A	ENST00000537503.1	-	1	505	c.450C>T	c.(448-450)atC>atT	p.I150I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	150					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CATTTATATGGATGTTTATCA	0.353													False	0	False	12:11091357	0	A	11091357	G	A	11091357	2	1	88	1	0	0	0	0	0	0	0	1	15650	1164	41	2		2	TAS2R14	12	11091357	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29730	11091357	122760538	12606	20318											
PRB3	5544	broad.mit.edu	37	chr12	11420871	11420871	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggactggtttcctccttgTgggggttgtccttctggctt	14	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11420871T>C	ENST00000279573.7	-	3	447	c.312A>G	c.(310-312)ccA>ccG	p.P104P	PRB3_ENST00000381842.3_Silent_p.P104P|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Silent_p.P104P			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3		10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCCTCCTTGTGGGGGTTGTC	0.637													False	0	True	12:11420871	0	C	11420871	T	C	11420871	2	2	88	1	0	0	0	0	0	0	0	1	12520	1683	59	4		4	PRB3	12	11420871	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	329514	11420871	122431024	12607	20319											
ETV6	2120	broad.mit.edu	37	chr12	12022779	12022779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccaggctctccgaggaCgggctgcatagggaagggaa	16	10	1	0	rs140005721	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12022779C>T	ENST00000396373.4	+	5	1159	c.885C>T	c.(883-885)gaC>gaT	p.D295D		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	295						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCTCCGAGGACGGGCTGCATA	0.592			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								False	0	True	12:12022779	0	T	12022779	C	T	12022779	2	4	88	1	0	0	0	0	0	0	0	1	5315	535	19	1		1	ETV6	12	12022779	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	601908	12022779	121829116	12608	20320											
LRP6	4040	broad.mit.edu	37	chr12	12274332	12274332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtggggggtgcaaagtGccggtagctatatggcctgt	18	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12274332G>A	ENST00000261349.4	-	23	4646	c.4570C>T	c.(4570-4572)Cac>Tac	p.H1524Y	LRP6_ENST00000543091.1_Missense_Mutation_p.H1479Y|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1524					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTGCAAAGTGCCGGTAGCTA	0.458													False	0	False	12:12274332	0	A	12274332	G	A	12274332	3	1	88	1	0	0	0	0	1	0	0	0	9024	1319	46	2	275	2	LRP6	12	12274332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	251553	12274332	121577563	12609	20321											
LRP6	4040	broad.mit.edu	37	chr12	12312866	12312866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagctctgtctatcttaGgttttccaccccattcagtc	6	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12312866G>T	ENST00000261349.4	-	11	2388	c.2312C>A	c.(2311-2313)cCt>cAt	p.P771H	LRP6_ENST00000543091.1_Missense_Mutation_p.P771H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	771	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTCTATCTTAGGTTTTCCACC	0.358													False	0	False	12:12312866	0	T	12312866	G	T	12312866	3	4	88	1	0	0	0	0	1	0	0	0	9024	1000	35	3	2581	3	LRP6	12	12312866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38534	12312866	121539029	12610	20322											
LRP6	4040	broad.mit.edu	37	chr12	12334299	12334299	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctaactgcagaacaatgtCtgtaaaatctggtgtatcca	7	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12334299C>T	ENST00000261349.4	-	6	1127	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	LRP6_ENST00000543091.1_Missense_Mutation_p.D351N	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	351	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGAACAATGTCTGTAAAATCT	0.423													False	0	False	12:12334299	0	T	12334299	C	T	12334299	3	4	88	1	0	0	0	0	1	0	0	0	9024	913	32	2	3862	2	LRP6	12	12334299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21433	12334299	121517596	12611	20323											
MANSC1	54682	broad.mit.edu	37	chr12	12483765	12483765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctctccatgagatatcGgtgggctttgaataatctgt	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12483765G>A	ENST00000535902.1	-	4	1055	c.492C>T	c.(490-492)acC>acT	p.T164T	MANSC1_ENST00000545735.1_Silent_p.T83T|MANSC1_ENST00000396349.3_Silent_p.T130T			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	164						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ATGAGATATCGGTGGGCTTTG	0.453													False	0	False	12:12483765	0	A	12483765	G	A	12483765	2	1	88	1	0	0	0	0	0	0	0	1	9291	1103	39	1		1	MANSC1	12	12483765	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149466	12483765	121368130	12612	20324											
MANSC1	54682	broad.mit.edu	37	chr12	12496182	12496182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaattctgactagcagacaGccttagtgtcaggaagcaaa	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12496182G>T	ENST00000535902.1	-	2	630	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	MANSC1_ENST00000396349.3_Intron			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	23						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CTAGCAGACAGCCTTAGTGTC	0.403													False	0	False	12:12496182	0	T	12496182	G	T	12496182	3	4	88	1	0	0	0	0	1	0	0	0	9291	962	34	3	1240	3	MANSC1	12	12496182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12417	12496182	121355713	12613	20325											
DUSP16	80824	broad.mit.edu	37	chr12	12630240	12630240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtggtaattgtcctccaCgctcccacttcgatgcagtg	11	12	0	0	rs149400013	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12630240C>T	ENST00000228862.2	-	7	2156	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	509					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.V509M(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TTGTCCTCCACGCTCCCACTT	0.587													False	0	False	12:12630240	0	T	12630240	C	T	12630240	3	4	88	1	0	0	0	0	1	0	0	0	4846	536	19	1	476	1	DUSP16	12	12630240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134058	12630240	121221655	12614	20326											
GPR19	2842	broad.mit.edu	37	chr12	12815366	12815366	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtggcttgctgttatccattCtgtgagcaaaaaccatattc	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12815366C>A	ENST00000540510.1	-	2	209	c.17G>T	c.(16-18)aGa>aTa	p.R6I	GPR19_ENST00000332427.2_Missense_Mutation_p.R6I			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	6						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GTTATCCATTCTGTGAGCAAA	0.428													False	0	False	12:12815366	0	A	12815366	C	A	12815366	3	1	88	1	0	0	0	0	1	0	0	0	6725	913	32	3	1234	3	GPR19	12	12815366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185126	12815366	121036529	12615	20327											
DDX47	51202	broad.mit.edu	37	chr12	12974144	12974144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatttctttttcttttaggtCgtgatatcattgggcttgca	8	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12974144C>T	ENST00000358007.3	+	3	206	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	DDX47_ENST00000392155.2_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.R62C	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	62	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCTTTTAGGTCGTGATATCAT	0.448													False	0	False	12:12974144	0	T	12974144	C	T	12974144	3	4	88	1	0	0	0	0	1	0	0	0	4390	884	31	1	194	1	DDX47	12	12974144	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158778	12974144	120877751	12616	20328											
DDX47	51202	broad.mit.edu	37	chr12	12974954	12974954	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaaaggtttcaacttgagAgctctcaaatacttggtcat	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12974954A>C	ENST00000358007.3	+	5	520	c.498A>C	c.(496-498)agA>agC	p.R166S	DDX47_ENST00000352940.4_Missense_Mutation_p.R166S	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	166	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCAACTTGAGAGCTCTCAAAT	0.428													False	0	False	12:12974954	0	C	12974954	A	C	12974954	3	2	88	1	0	0	0	0	1	0	0	0	4390	301	11	4	516	4	DDX47	12	12974954	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	810	12974954	120876941	12617	20329											
DDX47	51202	broad.mit.edu	37	chr12	12976838	12976838	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatattctaaatgaattggCtggaaactcctttatgatat	6	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12976838C>A	ENST00000358007.3	+	8	807	c.785C>A	c.(784-786)gCt>gAt	p.A262D	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	262	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AATGAATTGGCTGGAAACTCC	0.423													False	0	False	12:12976838	0	A	12976838	C	A	12976838	3	1	88	1	0	0	0	0	1	0	0	0	4390	797	28	3	815	3	DDX47	12	12976838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1884	12976838	120875057	12618	20330											
GPRC5D	55507	broad.mit.edu	37	chr12	13102917	13102917	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgcaacagactgcaaccAatagcaatgcacagaattgt	7	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13102917A>G	ENST00000228887.1	-	1	401	c.402T>C	c.(400-402)atT>atC	p.I134I	RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000545914.1_RNA|GPRC5D_ENST00000396333.3_Silent_p.I134I|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5, member D	134						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GACTGCAACCAATAGCAATGC	0.463													False	0	False	12:13102917	0	G	13102917	A	G	13102917	2	3	88	1	0	0	0	0	0	0	0	1	6774	126	5	4		4	GPRC5D	12	13102917	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	126079	13102917	120748978	12619	20331											
KIAA1467	57613	broad.mit.edu	37	chr12	13208820	13208820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctgtgtgctttcctgAtcccctgtcctcccagagat	8	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13208820A>G	ENST00000197268.8	+	2	493	c.373A>G	c.(373-375)Atc>Gtc	p.I125V		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	125						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGCTTTCCTGATCCCCTGTCC	0.577													False	0	False	12:13208820	0	G	13208820	A	G	13208820	3	3	88	1	0	0	0	0	1	0	0	0	8285	333	12	4	379	4	KIAA1467	12	13208820	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105903	13208820	120643075	12620	20332											
KIAA1467	57613	broad.mit.edu	37	chr12	13232935	13232935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggataaagtttgttgaagctCcctacgaggtgagtggctgc	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13232935C>T	ENST00000197268.8	+	12	1975	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	619						integral to membrane		p.P619S(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTTGAAGCTCCCTACGAGGT	0.478													False	0	True	12:13232935	0	T	13232935	C	T	13232935	3	4	88	1	0	0	0	0	1	0	0	0	8285	855	30	2	1901	2	KIAA1467	12	13232935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24115	13232935	120618960	12621	20333											
GRIN2B	2904	broad.mit.edu	37	chr12	13716563	13716563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggtcctcccactccacGttggtcaggttcttctccca	8	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13716563G>A	ENST00000609686.1	-	13	3818	c.3609C>T	c.(3607-3609)aaC>aaT	p.N1203N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCACTCCACGTTGGTCAGGT	0.637													False	0	False	12:13716563	0	A	13716563	G	A	13716563	2	1	88	1	0	0	0	0	0	0	0	1	6827	1136	40	1		1	GRIN2B	12	13716563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	483628	13716563	120135332	12622	20334											
GRIN2B	2904	broad.mit.edu	37	chr12	13717545	13717545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagactggcgctcctcgatcGccaccccatggatgcagctg	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13717545G>A	ENST00000609686.1	-	13	2836	c.2627C>T	c.(2626-2628)gCg>gTg	p.A876V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCCTCGATCGCCACCCCATG	0.542													False	0	False	12:13717545	0	A	13717545	G	A	13717545	3	1	88	1	0	0	0	0	1	0	0	0	6827	1087	38	1	1831	1	GRIN2B	12	13717545	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	982	13717545	120134350	12623	20335											
GRIN2B	2904	broad.mit.edu	37	chr12	13720117	13720117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctgccatgttgtcaatgtCcagctggctgctcatgacct	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13720117C>T	ENST00000609686.1	-	12	2649	c.2440G>A	c.(2440-2442)Gac>Aac	p.D814N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGTCAATGTCCAGCTGGCTG	0.527													False	0	False	12:13720117	0	T	13720117	C	T	13720117	3	4	88	1	0	0	0	0	1	0	0	0	6827	855	30	2	2022	2	GRIN2B	12	13720117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2572	13720117	120131778	12624	20336											
GRIN2B	2904	broad.mit.edu	37	chr12	13828724	13828724	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaagaattatcaccagtttCgggtgcatctggtagccatc	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13828724C>T	ENST00000609686.1	-	4	1289	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACCAGTTTCGGGTGCATCT	0.373													False	0	True	12:13828724	0	T	13828724	C	T	13828724	2	4	88	1	0	0	0	0	0	0	0	1	6827	871	31	1		1	GRIN2B	12	13828724	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108607	13828724	120023171	12625	20337											
GRIN2B	2904	broad.mit.edu	37	chr12	13906396	13906396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctctcactctggcggggaGgccatagtcccattcatcat	9	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13906396G>A	ENST00000609686.1	-	3	1074	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGGCGGGGAGGCCATAGTCC	0.537													False	0	False	12:13906396	0	A	13906396	G	A	13906396	3	1	88	1	0	0	0	0	1	0	0	0	6827	1000	35	2	3633	2	GRIN2B	12	13906396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77672	13906396	119945499	12626	20338											
ATF7IP	55729	broad.mit.edu	37	chr12	14634068	14634068	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagctcaggctcccttgCgaggaactgttatgcaggct	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14634068C>T	ENST00000544627.1	+	13	3573	c.3253C>T	c.(3253-3255)Cga>Tga	p.R1085*	ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.R1077*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.R1076*|ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.R1077*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1077					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GGCTCCCTTGCGAGGAACTGT	0.488													False	0	False	12:14634068	0	T	14634068	C	T	14634068	4	4	88	1	0	0	0	0	0	1	0	0	1091	760	27	1	3275	1	ATF7IP	12	14634068	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	727672	14634068	119217827	12627	20339											
GUCY2C	2984	broad.mit.edu	37	chr12	14805932	14805932	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctctggattgtatctcgtCttttgtcatcatcgatctgg	9	9	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14805932C>A	ENST00000261170.3	-	13	1623	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	496	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGTATCTCGTCTTTTGTCATC	0.473													False	0	True	12:14805932	0	A	14805932	C	A	14805932	3	1	88	1	0	0	0	0	1	0	0	0	6943	913	32	3	1794	3	GUCY2C	12	14805932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171864	14805932	119045963	12628	20340											
WBP11	51729	broad.mit.edu	37	chr12	14947480	14947480	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcacttctcaccaagttcagGactatataacatgtcttcat	4	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14947480G>T	ENST00000261167.2	-	7	945	c.712C>A	c.(712-714)Cct>Act	p.P238T		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	238					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CCAAGTTCAGGACTATATAAC	0.428													False	0	False	12:14947480	0	T	14947480	G	T	14947480	3	4	88	1	0	0	0	0	1	0	0	0	17342	1174	41	3	1237	3	WBP11	12	14947480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141548	14947480	118904415	12629	20341											
ART4	420	broad.mit.edu	37	chr12	14995976	14995976	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcaggcctccaaggagccaGattctcatcgttgcaggagg	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14995976G>A	ENST00000228936.4	-	1	453	c.72C>T	c.(70-72)atC>atT	p.I24I	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	24					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CAAGGAGCCAGATTCTCATCG	0.522													False	0	False	12:14995976	0	A	14995976	G	A	14995976	2	1	88	1	0	0	0	0	0	0	0	1	1003	932	33	2		2	ART4	12	14995976	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48496	14995976	118855919	12630	20342											
RERG	85004	broad.mit.edu	37	chr12	15262298	15262298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtcagctttgtttccaaCcaagatgagagtcacattct	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15262298C>T	ENST00000256953.2	-	5	682	c.346G>A	c.(346-348)Gtt>Att	p.V116I	RERG_ENST00000546331.1_Missense_Mutation_p.V97I|RERG_ENST00000538313.1_Missense_Mutation_p.V116I|RERG_ENST00000536465.1_Missense_Mutation_p.V116I	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	116					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						TTGTTTCCAACCAAGATGAGA	0.473													False	0	True	12:15262298	0	T	15262298	C	T	15262298	3	4	88	1	0	0	0	0	1	0	0	0	13311	507	18	2	257	2	RERG	12	15262298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266322	15262298	118589597	12631	20343											
RERG	85004	broad.mit.edu	37	chr12	15370385	15370385	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacttgcccacgcctgctctCccaaatattgccagtttgac	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15370385C>A	ENST00000256953.2	-	2	375	c.39G>T	c.(37-39)ggG>ggT	p.G13G	RERG_ENST00000546331.1_Silent_p.G13G|RERG_ENST00000538313.1_Silent_p.G13G|RERG_ENST00000537647.1_Silent_p.G13G|RERG_ENST00000536465.1_Silent_p.G13G	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	13					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCCTGCTCTCCCAAATATTG	0.418													False	0	True	12:15370385	0	A	15370385	C	A	15370385	2	1	88	1	0	0	0	0	0	0	0	1	13311	842	30	3		3	RERG	12	15370385	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108087	15370385	118481510	12632	20344											
PTPRO	5800	broad.mit.edu	37	chr12	15654735	15654735	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgggcaacatttcttcCggttggcctgattttaatag	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15654735C>T	ENST00000281171.4	+	5	1173	c.843C>T	c.(841-843)tcC>tcT	p.S281S	PTPRO_ENST00000543886.1_Silent_p.S281S|PTPRO_ENST00000348962.2_Silent_p.S281S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	281	Fibronectin type-III 3.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACATTTCTTCCGGTTGGCCTG	0.413													False	0	False	12:15654735	0	T	15654735	C	T	15654735	2	4	88	1	0	0	0	0	0	0	0	1	12888	639	23	1		1	PTPRO	12	15654735	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284350	15654735	118197160	12633	20345											
PTPRO	5800	broad.mit.edu	37	chr12	15654981	15654981	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttttgatgggttccatatCcatattgaacgagaaggtaa	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15654981C>T	ENST00000281171.4	+	5	1419	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	PTPRO_ENST00000543886.1_Silent_p.I363I|PTPRO_ENST00000348962.2_Silent_p.I363I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	363	Fibronectin type-III 4.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGTTCCATATCCATATTGAAC	0.388													False	0	True	12:15654981	0	T	15654981	C	T	15654981	2	4	88	1	0	0	0	0	0	0	0	1	12888	845	30	2		2	PTPRO	12	15654981	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246	15654981	118196914	12634	20346											
PTPRO	5800	broad.mit.edu	37	chr12	15739837	15739837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttttctctaaaggctgacGagatgcaggatgtgatgcat	11	6	1	3	rs141467284	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15739837G>A	ENST00000281171.4	+	24	3592	c.3262G>A	c.(3262-3264)Gag>Aag	p.E1088K	PTPRO_ENST00000442921.2_Missense_Mutation_p.E277K|PTPRO_ENST00000445537.2_Missense_Mutation_p.E277K|PTPRO_ENST00000542557.1_Missense_Mutation_p.E249K|PTPRO_ENST00000544244.1_Missense_Mutation_p.E249K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1060K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1088	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAAGGCTGACGAGATGCAGGA	0.428													False	0	False	12:15739837	0	A	15739837	G	A	15739837	3	1	88	1	0	0	0	0	1	0	0	0	12888	1059	37	1	3356	1	PTPRO	12	15739837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84856	15739837	118112058	12635	20347											
PTPRO	5800	broad.mit.edu	37	chr12	15742452	15742452	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgcagcacattcgggaTcatgagtttgttgacatctt	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15742452T>G	ENST00000281171.4	+	25	3804	c.3474T>G	c.(3472-3474)gaT>gaG	p.D1158E	PTPRO_ENST00000442921.2_Missense_Mutation_p.D347E|PTPRO_ENST00000445537.2_Missense_Mutation_p.D347E|PTPRO_ENST00000542557.1_Missense_Mutation_p.D319E|PTPRO_ENST00000544244.1_Missense_Mutation_p.D319E|PTPRO_ENST00000348962.2_Missense_Mutation_p.D1130E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1158	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACATTCGGGATCATGAGTTTG	0.448													False	0	False	12:15742452	0	G	15742452	T	G	15742452	3	3	88	1	0	0	0	0	1	0	0	0	12888	1432	50	4	3572	4	PTPRO	12	15742452	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2615	15742452	118109443	12636	20348											
EPS8	0	broad.mit.edu	37	chr12	15803788	15803788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttttatttcctgtttgCgctgatgttctgctacattt	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15803788C>T	ENST00000281172.5	-	14	1839	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	EPS8_ENST00000543612.1_Missense_Mutation_p.R468H|EPS8_ENST00000543523.1_Missense_Mutation_p.R468H|EPS8_ENST00000540613.1_Missense_Mutation_p.R208H|EPS8_ENST00000542903.1_Missense_Mutation_p.R208H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	468					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTCCTGTTTGCGCTGATGTTC	0.393													False	0	False	12:15803788	0	T	15803788	C	T	15803788	3	4	88	1	0	0	0	0	1	0	0	0	5226	768	27	1	1097	1	EPS8	12	15803788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61336	15803788	118048107	12637	20349											
EPS8	0	broad.mit.edu	37	chr12	15807132	15807132	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacagctgccgttcatcaccAttgacagtataatttaagaa	6	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15807132A>G	ENST00000281172.5	-	13	1633	c.1197T>C	c.(1195-1197)aaT>aaC	p.N399N	EPS8_ENST00000543612.1_Silent_p.N399N|EPS8_ENST00000543523.1_Silent_p.N399N|EPS8_ENST00000540613.1_Silent_p.N139N|EPS8_ENST00000542903.1_Silent_p.N139N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	399	PH; second part.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GTTCATCACCATTGACAGTAT	0.418													False	0	False	12:15807132	0	G	15807132	A	G	15807132	2	3	88	1	0	0	0	0	0	0	0	1	5226	214	8	4		4	EPS8	12	15807132	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3344	15807132	118044763	12638	20350											
STRAP	11171	broad.mit.edu	37	chr12	16047046	16047046	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtgcagtgaggataaaCagattctttctgctgatgac	12	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:16047046C>T	ENST00000419869.2	+	5	782	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	STRAP_ENST00000025399.6_Nonsense_Mutation_p.Q170*|STRAP_ENST00000538352.1_Nonsense_Mutation_p.Q63*	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	157					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TGAGGATAAACAGATTCTTTC	0.348													False	0	True	12:16047046	0	T	16047046	C	T	16047046	4	4	88	1	0	0	0	0	0	1	0	0	15408	479	17	2	487	2	STRAP	12	16047046	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239914	16047046	117804849	12639	20351											
LMO3	55885	broad.mit.edu	37	chr12	16757805	16757805	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gactgtaaccttaccaaaacTtttctcctttttctgcatga	4	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:16757805T>G	ENST00000261169.6	-	1	276	c.19A>C	c.(19-21)Agt>Cgt	p.S7R	LMO3_ENST00000441439.2_Intron|LMO3_ENST00000534946.1_Intron|LMO3_ENST00000320122.6_5'UTR|LMO3_ENST00000535535.1_Intron|LMO3_ENST00000541295.1_Intron|LMO3_ENST00000537304.1_Intron|LMO3_ENST00000541846.1_Intron|LMO3_ENST00000540445.1_Intron|LMO3_ENST00000537568.1_Intron|LMO3_ENST00000354662.1_Intron|LMO3_ENST00000540848.1_Intron|LMO3_ENST00000447609.1_Intron			Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TTACCAAAACTTTTCTCCTTT	0.478													False	0	True	12:16757805	0	G	16757805	T	G	16757805	3	3	88	1	0	0	0	0	1	0	0	0	8906	1624	56	4		4	LMO3	12	16757805	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	710759	16757805	117094090	12640	20352											
RERGL	79785	broad.mit.edu	37	chr12	18234333	18234333	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgccagcttttgccctTcttcccagccaacctctcgc	6	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18234333T>G	ENST00000229002.2	-	6	616	c.410A>C	c.(409-411)gAa>gCa	p.E137A	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.E136A|RERGL_ENST00000536890.1_3'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	137	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CTTTTGCCCTTCTTCCCAGCC	0.443													False	0	False	12:18234333	0	G	18234333	T	G	18234333	3	3	88	1	0	0	0	0	1	0	0	0	13312	1783	62	4	211	4	RERGL	12	18234333	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1476528	18234333	115617562	12641	20353											
PIK3C2G	5288	broad.mit.edu	37	chr12	18544112	18544112	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgattctgaagagaatagAagtaatcttgaagagccact	9	7	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18544112A>G	ENST00000433979.1	+	14	2045	c.1929A>G	c.(1927-1929)agA>agG	p.R643R	PIK3C2G_ENST00000538779.1_Silent_p.R684R|PIK3C2G_ENST00000266497.5_Silent_p.R643R	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	643					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAGAGAATAGAAGTAATCTTG	0.383													False	0	False	12:18544112	0	G	18544112	A	G	18544112	2	3	88	1	0	0	0	0	0	0	0	1	11980	243	9	4		4	PIK3C2G	12	18544112	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	309779	18544112	115307783	12642	20354											
PIK3C2G	5288	broad.mit.edu	37	chr12	18552635	18552635	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatttatggttttatcgcttCtactgcaataatgaaaactg	6	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18552635C>T	ENST00000433979.1	+	15	2162	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	PIK3C2G_ENST00000538779.1_Silent_p.F723F|PIK3C2G_ENST00000266497.5_Silent_p.F682F	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	682					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTTATCGCTTCTACTGCAATA	0.383													False	0	False	12:18552635	0	T	18552635	C	T	18552635	2	4	88	1	0	0	0	0	0	0	0	1	11980	912	32	2		2	PIK3C2G	12	18552635	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8523	18552635	115299260	12643	20355											
CAPZA3	93661	broad.mit.edu	37	chr12	18891240	18891240	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagcaggaaggacaaggaaaGagtaattcgcagactgttat	13	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891240G>T	ENST00000317658.3	+	1	196	c.38G>T	c.(37-39)aGa>aTa	p.R13I		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	13					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GACAAGGAAAGAGTAATTCGC	0.428													False	0	True	12:18891240	0	T	18891240	G	T	18891240	3	4	88	1	0	0	0	0	1	0	0	0	2662	942	33	3	40	3	CAPZA3	12	18891240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	338605	18891240	114960655	12644	20356											
CAPZA3	93661	broad.mit.edu	37	chr12	18891833	18891833	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatatccaaggacctgaaaGaaagcttggaaatagttaac	8	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891833G>A	ENST00000317658.3	+	1	789	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	211					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GGACCTGAAAGAAAGCTTGGA	0.398													False	0	True	12:18891833	0	A	18891833	G	A	18891833	3	1	88	1	0	0	0	0	1	0	0	0	2662	943	33	2	633	2	CAPZA3	12	18891833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	593	18891833	114960062	12645	20357											
CAPZA3	93661	broad.mit.edu	37	chr12	18891950	18891950	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aattacaggagttatccaatGaagccctgagaaaaattcta	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891950G>A	ENST00000317658.3	+	1	906	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	250					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GTTATCCAATGAAGCCCTGAG	0.433													False	0	False	12:18891950	0	A	18891950	G	A	18891950	3	1	88	1	0	0	0	0	1	0	0	0	2662	1291	45	2	750	2	CAPZA3	12	18891950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	18891950	114959945	12646	20358											
AEBP2	121536	broad.mit.edu	37	chr12	19615452	19615452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttttgtagcataagcaGtactataatggatgtagaca	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:19615452G>A	ENST00000266508.9	+	2	681	c.680G>A	c.(679-681)aGt>aAt	p.S227N	AEBP2_ENST00000360995.4_Missense_Mutation_p.S11N|AEBP2_ENST00000398864.3_Missense_Mutation_p.S227N|AEBP2_ENST00000541908.1_5'UTR	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	227	Interaction with RBBP4.|Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AGCATAAGCAGTACTATAATG	0.343													False	0	False	12:19615452	0	A	19615452	G	A	19615452	3	1	88	1	0	0	0	0	1	0	0	0	350	1029	36	2	686	2	AEBP2	12	19615452	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	723502	19615452	114236443	12647	20359											
AEBP2	121536	broad.mit.edu	37	chr12	19671045	19671045	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgccgcagaagaggttgaaGaggtaaaaaataaataaata	10	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:19671045G>A	ENST00000266508.9	+	8	1507	c.1506G>A	c.(1504-1506)aaG>aaA	p.K502K	AEBP2_ENST00000360995.4_Silent_p.K286K|AEBP2_ENST00000398864.3_Silent_p.K502K|AEBP2_ENST00000541908.1_Silent_p.K273K	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	502	Interaction with SUZ12.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AGAGGTTGAAGAGGTAAAAAA	0.348													False	0	False	12:19671045	0	A	19671045	G	A	19671045	2	1	88	1	0	0	0	0	0	0	0	1	350	933	33	2		2	AEBP2	12	19671045	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55593	19671045	114180850	12648	20360											
PDE3A	5139	broad.mit.edu	37	chr12	20522684	20522684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcctgcgcgccggggtgCgcctgcctctggctgtcgcg	15	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20522684C>T	ENST00000359062.3	+	1	506	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	156					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CGCCGGGGTGCGCCTGCCTCT	0.697													False	0	True	12:20522684	0	T	20522684	C	T	20522684	3	4	88	1	0	0	0	0	1	0	0	0	11705	768	27	1	468	1	PDE3A	12	20522684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	851639	20522684	113329211	12649	20361											
PDE3A	5139	broad.mit.edu	37	chr12	20523167	20523167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctccctgccctgtataCcgagggaacaggtaagcact	11	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20523167C>T	ENST00000359062.3	+	1	989	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	317					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GCCCTGTATACCGAGGGAACA	0.607													False	0	False	12:20523167	0	T	20523167	C	T	20523167	3	4	88	1	0	0	0	0	1	0	0	0	11705	507	18	2	951	2	PDE3A	12	20523167	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	483	20523167	113328728	12650	20362											
PDE3A	5139	broad.mit.edu	37	chr12	20769306	20769306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcaaactgcaggaagCaccttcatccaggtggcata	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20769306C>T	ENST00000359062.3	+	4	1452	c.1412C>T	c.(1411-1413)gCa>gTa	p.A471V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	471					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGCAGGAAGCACCTTCATCC	0.512													False	0	False	12:20769306	0	T	20769306	C	T	20769306	3	4	88	1	0	0	0	0	1	0	0	0	11705	710	25	2	1426	2	PDE3A	12	20769306	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	246139	20769306	113082589	12651	20363											
PDE3A	5139	broad.mit.edu	37	chr12	20790055	20790055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaaccaattcttgctcccGaacctcttgtcatggataac	5	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20790055G>A	ENST00000359062.3	+	9	2063	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	675					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCTTGCTCCCGAACCTCTTGT	0.338													False	0	True	12:20790055	0	A	20790055	G	A	20790055	3	1	88	1	0	0	0	0	1	0	0	0	11705	1059	37	1	2057	1	PDE3A	12	20790055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20749	20790055	113061840	12652	20364											
PDE3A	5139	broad.mit.edu	37	chr12	20832995	20832995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaaaggagaaaaatctaCtgccaaataactcagcacct	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20832995C>T	ENST00000359062.3	+	16	3256	c.3216C>T	c.(3214-3216)taC>taT	p.Y1072Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1072	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GAAAAATCTACTGCCAAATAA	0.378													False	0	False	12:20832995	0	T	20832995	C	T	20832995	2	4	88	1	0	0	0	0	0	0	0	1	11705	576	20	2		2	PDE3A	12	20832995	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42940	20832995	113018900	12653	20365											
SLCO1C1	53919	broad.mit.edu	37	chr12	20890164	20890164	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcacatatgtatcagcttgTcttgctggttgtcaaacctc	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20890164T>C	ENST00000381552.1	+	11	1874	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	SLCO1C1_ENST00000266509.2_Silent_p.C502C|SLCO1C1_ENST00000545604.1_Silent_p.C502C|SLCO1C1_ENST00000545102.1_Silent_p.C384C|SLCO1C1_ENST00000540354.1_Silent_p.C453C			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	502	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TATCAGCTTGTCTTGCTGGTT	0.388													False	0	False	12:20890164	0	C	20890164	T	C	20890164	2	2	88	1	0	0	0	0	0	0	0	1	14805	1673	58	4		4	SLCO1C1	12	20890164	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57169	20890164	112961731	12654	20366											
SLCO1B3	28234	broad.mit.edu	37	chr12	21014072	21014072	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgagatagtagaaaaaGgtaagaattaatagtgacag	10	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21014072G>A	ENST00000381545.3	+	6	700	c.481G>A	c.(481-483)Gat>Aat	p.D161N	SLCO1B3_ENST00000261196.2_Splice_Site_p.D161N|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Splice_Site_p.D161N|SLCO1B3_ENST00000553473.1_Splice_Site_p.D161N	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	161					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGTAGAAAAAGGTAAGAATTA	0.264													False	0	True	12:21014072	0	A	21014072	G	A	21014072	5	1	88	1	0	0	0	0	0	0	1	0	14804	1014	35	2	495	2	SLCO1B3	12	21014072	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123908	21014072	112837823	12655	20367											
SLCO1B1	10599	broad.mit.edu	37	chr12	21294592	21294592	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatactgcaatggattgaaGgtagaataagttttatgttt	10	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21294592G>T	ENST00000256958.2	+	2	180	c.84G>T	c.(82-84)aaG>aaT	p.K28N		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	28					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATGGATTGAAGGTAGAATAAG	0.274													False	0	False	12:21294592	0	T	21294592	G	T	21294592	5	4	88	1	0	0	0	0	0	0	1	0	14803	1014	35	3	86	3	SLCO1B1	12	21294592	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	280520	21294592	112557303	12656	20368											
SLCO1B1	10599	broad.mit.edu	37	chr12	21355541	21355541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgttttactgctgtgatgTcattgtccttttacctatta	6	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21355541T>C	ENST00000256958.2	+	10	1348	c.1252T>C	c.(1252-1254)Tca>Cca	p.S418P		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	418					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGCTGTGATGTCATTGTCCTT	0.323													False	0	False	12:21355541	0	C	21355541	T	C	21355541	3	2	88	1	0	0	0	0	1	0	0	0	14803	1667	58	4	1286	4	SLCO1B1	12	21355541	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	60949	21355541	112496354	12657	20369											
SLCO1A2	6579	broad.mit.edu	37	chr12	21459897	21459897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggacaagttgcctgaaaCtgaaactgtagattcatatt	9	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21459897C>T	ENST00000307378.6	-	6	1081	c.361G>A	c.(361-363)Gtt>Att	p.V121I	SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V119I|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V121I|SLCO1A2_ENST00000458504.1_5'UTR	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	121					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTGCCTGAAACTGAAACTGTA	0.363													False	0	True	12:21459897	0	T	21459897	C	T	21459897	3	4	88	1	0	0	0	0	1	0	0	0	14802	565	20	2	1695	2	SLCO1A2	12	21459897	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104356	21459897	112391998	12658	20370											
SLCO1A2	6579	broad.mit.edu	37	chr12	21487720	21487720	+	Translation_Start_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttttgaagtaagtgctgaaAatgaacaacataattgaaat	7	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21487720A>C	ENST00000452078.1	-	0	112				SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000458504.1_Intron	NM_021094.3	NP_066580.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2						bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AAGTGCTGAAAATGAACAACA	0.284													False	0	True	12:21487720	0	C	21487720	A	C	21487720	1	2	88	1	0	0	0	0	0	0	0	0	14802	29	1	4		4	SLCO1A2	12	21487720	Translation_Start_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27823	21487720	112364175	12659	20371											
IAPP	3375	broad.mit.edu	37	chr12	21526313	21526313	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctgaagctgcaagtatttCtcattgtgctctctgttgca	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21526313C>A	ENST00000542023.1	+	2	129	c.28C>A	c.(28-30)Ctc>Atc	p.L10I	SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000473830.1_Intron|IAPP_ENST00000539393.1_Missense_Mutation_p.L10I|IAPP_ENST00000240652.3_Missense_Mutation_p.L10I			P10997	IAPP_HUMAN	islet amyloid polypeptide	10					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	GCAAGTATTTCTCATTGTGCT	0.358													False	0	True	12:21526313	0	A	21526313	C	A	21526313	3	1	88	1	0	0	0	0	1	0	0	0	7522	913	32	3	30	3	IAPP	12	21526313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38593	21526313	112325582	12660	20372											
PYROXD1	79912	broad.mit.edu	37	chr12	21598390	21598390	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtaaagcaactgaagaGtgaagaacacgtaagataat	11	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21598390G>T	ENST00000538582.1	+	3	815	c.62G>T	c.(61-63)aGt>aTt	p.S21I	PYROXD1_ENST00000545178.1_Missense_Mutation_p.S92I|PYROXD1_ENST00000240651.9_Missense_Mutation_p.S92I			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	92							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						CAACTGAAGAGTGAAGAACAC	0.363													False	0	False	12:21598390	0	T	21598390	G	T	21598390	3	4	88	1	0	0	0	0	1	0	0	0	12945	1029	36	3	285	3	PYROXD1	12	21598390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72077	21598390	112253505	12661	20373											
RECQL	5965	broad.mit.edu	37	chr12	21624421	21624421	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccagatcttcacgaggaagTgtgggagccacaacacctgc	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21624421T>C	ENST00000444129.2	-	13	2076	c.1608A>G	c.(1606-1608)acA>acG	p.T536T	RECQL_ENST00000421138.2_Silent_p.T536T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	536					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CACGAGGAAGTGTGGGAGCCA	0.398								Other identified genes with known or suspected DNA repair function					False	0	False	12:21624421	0	C	21624421	T	C	21624421	2	2	88	1	0	0	0	0	0	0	0	1	13280	1683	59	4		4	RECQL	12	21624421	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26031	21624421	112227474	12662	20374											
RECQL	5965	broad.mit.edu	37	chr12	21644468	21644468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaccttctttattccaagCggcaggtgaagaatcatatt	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21644468C>T	ENST00000444129.2	-	3	667	c.199G>A	c.(199-201)Gct>Act	p.A67T	RECQL_ENST00000421138.2_Missense_Mutation_p.A67T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	67					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTATTCCAAGCGGCAGGTGAA	0.323								Other identified genes with known or suspected DNA repair function					False	0	False	12:21644468	0	T	21644468	C	T	21644468	3	4	88	1	0	0	0	0	1	0	0	0	13280	768	27	1	1802	1	RECQL	12	21644468	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20047	21644468	112207427	12663	20375											
GOLT1B	51026	broad.mit.edu	37	chr12	21659878	21659878	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttctttggaatgattctcTtttttgacaaagcactactg	7	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21659878T>G	ENST00000229314.5	+	2	194	c.85T>G	c.(85-87)Ttt>Gtt	p.F29V	GOLT1B_ENST00000542038.1_Intron|GOLT1B_ENST00000535593.1_Intron|GOLT1B_ENST00000540141.1_Missense_Mutation_p.F29V	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	29	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						AATGATTCTCTTTTTTGACAA	0.274													False	0	True	12:21659878	0	G	21659878	T	G	21659878	3	3	88	1	0	0	0	0	1	0	0	0	6616	1609	56	4	91	4	GOLT1B	12	21659878	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15410	21659878	112192017	12664	20376											
GYS2	2998	broad.mit.edu	37	chr12	21690005	21690005	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcatcgtatctctcAtcctccacttcatcttccac	1	18	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21690005A>G	ENST00000261195.2	-	16	2249	c.1995T>C	c.(1993-1995)gaT>gaC	p.D665D		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	665					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGTATCTCTCATCCTCCACTT	0.483													False	0	True	12:21690005	0	G	21690005	A	G	21690005	2	3	88	1	0	0	0	0	0	0	0	1	6960	214	8	4		4	GYS2	12	21690005	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30127	21690005	112161890	12665	20377											
LDHB	3945	broad.mit.edu	37	chr12	21795006	21795006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacatccacttccaatcaCgcggtgtttgggtaatccac	7	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21795006C>T	ENST00000396076.1	-	5	807	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	LDHB_ENST00000350669.1_Missense_Mutation_p.V159M	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	159					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	CTTCCAATCACGCGGTGTTTG	0.398													False	0	False	12:21795006	0	T	21795006	C	T	21795006	3	4	88	1	0	0	0	0	1	0	0	0	8752	536	19	1	545	1	LDHB	12	21795006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105001	21795006	112056889	12666	20378											
KCNJ8	3764	broad.mit.edu	37	chr12	21926289	21926289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagccaccacatgatagCgaagagcagccagctgcaga	10	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21926289C>T	ENST00000240662.2	-	2	607	c.262G>A	c.(262-264)Gct>Act	p.A88T		NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	88						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CACATGATAGCGAAGAGCAGC	0.517											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:21926289	0	T	21926289	C	T	21926289	3	4	88	1	0	0	0	0	1	0	0	0	8106	768	27	1	1020	1	KCNJ8	12	21926289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131283	21926289	111925606	12667	20379											
ABCC9	10060	broad.mit.edu	37	chr12	21958192	21958192	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatcacactccactaaaatAccctcagaaaagactaaaac	3	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21958192A>G	ENST00000261201.4	-	38	4565	c.4566T>C	c.(4564-4566)ggT>ggC	p.G1522G	ABCC9_ENST00000261200.4_Intron|ABCC9_ENST00000345162.2_Silent_p.G1486G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1522	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCACTAAAATACCCTCAGAAA	0.408													False	0	True	12:21958192	0	G	21958192	A	G	21958192	2	3	88	1	0	0	0	0	0	0	0	1	59	378	14	4		4	ABCC9	12	21958192	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31903	21958192	111893703	12668	20380											
ABCC9	10060	broad.mit.edu	37	chr12	21998636	21998636	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaatgcttcaaaagcttagaGaaaatcatcaggatgagcag	10	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21998636G>A	ENST00000261200.4	-	24	2996	c.2997C>T	c.(2995-2997)ttC>ttT	p.F999F	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.F963F|ABCC9_ENST00000261201.4_Silent_p.F999F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	999	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAGCTTAGAGAAAATCATCA	0.448													False	0	True	12:21998636	0	A	21998636	G	A	21998636	2	1	88	1	0	0	0	0	0	0	0	1	59	933	33	2		2	ABCC9	12	21998636	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40444	21998636	111853259	12669	20381											
ST8SIA1	6489	broad.mit.edu	37	chr12	22486947	22486947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacctgaacgctctggccgCggtctggttcctcctccacg	11	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22486947C>T	ENST00000396037.4	-	1	701	c.220G>A	c.(220-222)Gcg>Acg	p.A74T	ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A74T|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A74T|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000539510.1_5'UTR	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	74					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCTCTGGCCGCGGTCTGGTTC	0.652													False	0	False	12:22486947	0	T	22486947	C	T	22486947	3	4	88	1	0	0	0	0	1	0	0	0	15313	768	27	1	870	1	ST8SIA1	12	22486947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	488311	22486947	111364948	12670	20382											
ST8SIA1	6489	broad.mit.edu	37	chr12	22487118	22487118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttccacgccagtacagCcatggcccctctggacgttt	9	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22487118C>T	ENST00000396037.4	-	1	530	c.49G>A	c.(49-51)Gct>Act	p.A17T	ST8SIA1_ENST00000404299.3_Missense_Mutation_p.A17T|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.A17T|ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000539510.1_5'UTR	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	17					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCCAGTACAGCCATGGCCCCT	0.701													False	0	False	12:22487118	0	T	22487118	C	T	22487118	3	4	88	1	0	0	0	0	1	0	0	0	15313	739	26	2	1041	2	ST8SIA1	12	22487118	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171	22487118	111364777	12671	20383											
SOX5	6660	broad.mit.edu	37	chr12	23716316	23716316	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttggattgccttggtgacaGcatcatggtcatttaagtaa	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:23716316G>T	ENST00000546136.1	-	10	1327	c.1325C>A	c.(1324-1326)gCt>gAt	p.A442D	SOX5_ENST00000451604.2_Missense_Mutation_p.A455D|SOX5_ENST00000396007.2_Missense_Mutation_p.A69D|SOX5_ENST00000309359.1_Missense_Mutation_p.A442D|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000545921.1_Missense_Mutation_p.A445D|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000537393.1_Missense_Mutation_p.A420D			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	455					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTGGTGACAGCATCATGGTC	0.428													False	0	False	12:23716316	0	T	23716316	G	T	23716316	3	4	88	1	0	0	0	0	1	0	0	0	15034	971	34	3	947	3	SOX5	12	23716316	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1229198	23716316	110135579	12672	20384											
SOX5	6660	broad.mit.edu	37	chr12	23893858	23893858	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctgtttctcaatctgagaGgcagctagtttcttctgctc	9	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:23893858G>T	ENST00000546136.1	-	4	647	c.645C>A	c.(643-645)gcC>gcA	p.A215A	SOX5_ENST00000451604.2_Silent_p.A228A|SOX5_ENST00000309359.1_Silent_p.A215A|SOX5_ENST00000381381.2_Silent_p.A215A|SOX5_ENST00000545921.1_Silent_p.A218A|SOX5_ENST00000541536.1_Silent_p.A215A|SOX5_ENST00000541847.1_Silent_p.A218A|SOX5_ENST00000537393.1_Silent_p.A193A			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	228					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAATCTGAGAGGCAGCTAGTT	0.493													False	0	False	12:23893858	0	T	23893858	G	T	23893858	2	4	88	1	0	0	0	0	0	0	0	1	15034	987	35	3		3	SOX5	12	23893858	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177542	23893858	109958037	12673	20385											
SOX5	6660	broad.mit.edu	37	chr12	24102519	24102519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaactcctgaggtaaaTcagggtcagtaagcatgctg	10	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:24102519T>C	ENST00000451604.2	-	1	118	c.17A>G	c.(16-18)gAt>gGt	p.D6G	SOX5_ENST00000309359.1_5'UTR|SOX5_ENST00000381381.2_5'UTR|SOX5_ENST00000545921.1_Intron|SOX5_ENST00000541847.1_Intron|SOX5_ENST00000441133.2_Missense_Mutation_p.D6G|SOX5_ENST00000536850.1_5'UTR|SOX5_ENST00000537393.1_Missense_Mutation_p.D6G			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	6					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGAGGTAAATCAGGGTCAGT	0.423													False	0	True	12:24102519	0	C	24102519	T	C	24102519	3	2	88	1	0	0	0	0	1	0	0	0	15034	1435	50	4	2344	4	SOX5	12	24102519	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208661	24102519	109749376	12674	20386											
BCAT1	586	broad.mit.edu	37	chr12	25031471	25031471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtcagtttgcacctcagttCcaatgaatgtaggacgaata	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25031471C>T	ENST00000261192.7	-	5	1029	c.503G>A	c.(502-504)gGa>gAa	p.G168E	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.G180E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G167E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G107E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G131E	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	168					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CACCTCAGTTCCAATGAATGT	0.378													False	0	False	12:25031471	0	T	25031471	C	T	25031471	3	4	88	1	0	0	0	0	1	0	0	0	1358	855	30	2	685	2	BCAT1	12	25031471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	928952	25031471	108820424	12675	20387											
LRMP	4033	broad.mit.edu	37	chr12	25232195	25232195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagaatggtgttgaacgCgtgtgtcctgagagcctgct	15	7	0	3	rs114104872	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25232195C>T	ENST00000354454.3	+	6	871	c.42C>T	c.(40-42)cgC>cgT	p.R14R	LRMP_ENST00000547044.1_Silent_p.R14R|LRMP_ENST00000548766.1_Silent_p.R14R	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	70					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTGTTGAACGCGTGTGTCCTG	0.373													False	0	True	12:25232195	0	T	25232195	C	T	25232195	2	4	88	1	0	0	0	0	0	0	0	1	9012	755	27	1		1	LRMP	12	25232195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200724	25232195	108619700	12676	20388											
LRMP	4033	broad.mit.edu	37	chr12	25232657	25232657	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactcgctctgtaagaaagaGgaggatacaagatcagcttc	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25232657G>T	ENST00000354454.3	+	8	1033	c.204G>T	c.(202-204)gaG>gaT	p.E68D	LRMP_ENST00000547044.1_Missense_Mutation_p.E68D|LRMP_ENST00000548766.1_Missense_Mutation_p.E68D	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	124					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTAAGAAAGAGGAGGATACAA	0.403													False	0	True	12:25232657	0	T	25232657	G	T	25232657	3	4	88	1	0	0	0	0	1	0	0	0	9012	991	35	3	218	3	LRMP	12	25232657	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	462	25232657	108619238	12677	20389											
CASC1	55259	broad.mit.edu	37	chr12	25263104	25263104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatagtaggttccacttgCtccaaccaaatgcaaaagca	6	11	0	0	rs139550496		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25263104C>T	ENST00000354189.5	-	15	2059	c.2024G>A	c.(2023-2025)aGc>aAc	p.S675N	CASC1_ENST00000395990.2_Missense_Mutation_p.S571N|CASC1_ENST00000537577.1_Missense_Mutation_p.S499N|CASC1_ENST00000395987.3_Missense_Mutation_p.S617N|CASC1_ENST00000545133.1_Missense_Mutation_p.S552N|CASC1_ENST00000320267.9_Missense_Mutation_p.S611N	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	611										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTTCCACTTGCTCCAACCAAA	0.348													False	0	False	12:25263104	0	T	25263104	C	T	25263104	3	4	88	1	0	0	0	0	1	0	0	0	2680	797	28	2	326	2	CASC1	12	25263104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30447	25263104	108588791	12678	20390											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	88	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135180	25398284	108453611	12679	20391											
IFLTD1	160492	broad.mit.edu	37	chr12	25699363	25699363	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagtattttaaagtttTctgagtgtagtttgagtgtg	11	1	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25699363T>C	ENST00000539744.1	-	4	561	c.82A>G	c.(82-84)Aaa>Gaa	p.K28E	IFLTD1_ENST00000445693.1_Missense_Mutation_p.K62E|IFLTD1_ENST00000413632.2_Missense_Mutation_p.K146E|IFLTD1_ENST00000282881.6_Missense_Mutation_p.K125E|IFLTD1_ENST00000458174.2_Missense_Mutation_p.K146E	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	125						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTTAAAGTTTTCTGAGTGTAG	0.358													False	0	True	12:25699363	0	C	25699363	T	C	25699363	3	2	88	1	0	0	0	0	1	0	0	0	7580	1792	62	4	817	4	IFLTD1	12	25699363	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	301079	25699363	108152532	12680	20392											
IFLTD1	160492	broad.mit.edu	37	chr12	25702320	25702320	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagaagtcaattgtccagTtgttgatatagttactctac	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25702320T>G	ENST00000282881.6	-	2	336	c.187A>C	c.(187-189)Act>Cct	p.T63P	IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000413632.2_Missense_Mutation_p.T84P|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000458174.2_Missense_Mutation_p.T84P	NM_152590.3	NP_689803.2	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	63						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					AATTGTCCAGTTGTTGATATA	0.388													False	0	False	12:25702320	0	G	25702320	T	G	25702320	3	3	88	1	0	0	0	0	1	0	0	0	7580	1725	60	4	1007	4	IFLTD1	12	25702320	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2957	25702320	108149575	12681	20393											
RASSF8	11228	broad.mit.edu	37	chr12	26217586	26217586	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccgtctctcagtgagCgacccacttcagacagtgtg	12	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26217586C>T	ENST00000405154.2	+	3	458	c.259C>T	c.(259-261)Cga>Tga	p.R87*	RASSF8_ENST00000542865.1_Nonsense_Mutation_p.R87*|RASSF8_ENST00000381352.3_Nonsense_Mutation_p.R87*|RASSF8_ENST00000282884.9_Nonsense_Mutation_p.R87*|RASSF8_ENST00000541490.1_Nonsense_Mutation_p.R87*	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	87					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TCTCAGTGAGCGACCCACTTC	0.473													False	0	False	12:26217586	0	T	26217586	C	T	26217586	4	4	88	1	0	0	0	0	0	1	0	0	13171	760	27	1	265	1	RASSF8	12	26217586	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	515266	26217586	107634309	12682	20394											
SSPN	8082	broad.mit.edu	37	chr12	26348816	26348816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcgccgtgaccgtggtgGgcttcctcatggcgagcatc	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26348816G>A	ENST00000242729.2	+	1	388	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	SSPN_ENST00000540266.1_Intron|SSPN_ENST00000535504.1_Missense_Mutation_p.G71S|SSPN_ENST00000422622.2_Intron	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	71					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					GACCGTGGTGGGCTTCCTCAT	0.642													False	0	True	12:26348816	0	A	26348816	G	A	26348816	3	1	88	1	0	0	0	0	1	0	0	0	15270	1232	43	2	213	2	SSPN	12	26348816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131230	26348816	107503079	12683	20395											
ITPR2	3709	broad.mit.edu	37	chr12	26636792	26636792	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagggtctcacagactaGgttgtaatttgttttgttgt	11	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26636792G>T	ENST00000381340.3	-	42	6267	c.5851C>A	c.(5851-5853)Cta>Ata	p.L1951I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1951					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCACAGACTAGGTTGTAATTT	0.408													False	0	False	12:26636792	0	T	26636792	G	T	26636792	3	4	88	1	0	0	0	0	1	0	0	0	7971	991	35	3	2318	3	ITPR2	12	26636792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287976	26636792	107215103	12684	20396											
ITPR2	3709	broad.mit.edu	37	chr12	26809444	26809444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttatggccagatactggcGatccaagcacatccttgcaa	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26809444G>A	ENST00000381340.3	-	19	2646	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	744					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGATACTGGCGATCCAAGCAC	0.448													False	0	False	12:26809444	0	A	26809444	G	A	26809444	3	1	88	1	0	0	0	0	1	0	0	0	7971	1058	37	1	6031	1	ITPR2	12	26809444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	172652	26809444	107042451	12685	20397											
ITPR2	3709	broad.mit.edu	37	chr12	26816642	26816642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttccggtaatcctgctgCgagtgtctcaggacgcggta	12	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26816642C>T	ENST00000381340.3	-	15	2105	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	563					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AATCCTGCTGCGAGTGTCTCA	0.473													False	0	False	12:26816642	0	T	26816642	C	T	26816642	2	4	88	1	0	0	0	0	0	0	0	1	7971	755	27	1		1	ITPR2	12	26816642	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7198	26816642	107035253	12686	20398											
FGFR1OP2	26127	broad.mit.edu	37	chr12	27116329	27116329	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcagcagtaatgaggaaaGccattgaaattgacgagcaa	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27116329G>T	ENST00000229395.3	+	6	907	c.565G>T	c.(565-567)Gcc>Tcc	p.A189S	FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.A151S	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	189						cytoplasm				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					AATGAGGAAAGCCATTGAAAT	0.373													False	0	True	12:27116329	0	T	27116329	G	T	27116329	3	4	88	1	0	0	0	0	1	0	0	0	5905	971	34	3	592	3	FGFR1OP2	12	27116329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299687	27116329	106735566	12687	20399											
TM7SF3	51768	broad.mit.edu	37	chr12	27152544	27152544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccaagtgcatgtactctgCtctggtctaaggatgaaaac	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27152544C>A	ENST00000343028.4	-	3	537	c.312G>T	c.(310-312)gaG>gaT	p.E104D	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	104						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATGTACTCTGCTCTGGTCTAA	0.473													False	0	True	12:27152544	0	A	27152544	C	A	27152544	3	1	88	1	0	0	0	0	1	0	0	0	16057	796	28	3	1440	3	TM7SF3	12	27152544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36215	27152544	106699351	12688	20400											
C12orf71	728858	broad.mit.edu	37	chr12	27234975	27234975	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaggaaatacagcgtcatCatctttcagattttctagaa	6	8	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27234975C>T	ENST00000429849.2	-	1	472	c.442G>A	c.(442-444)Gat>Aat	p.D148N		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	148										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						ACAGCGTCATCATCTTTCAGA	0.418													False	0	False	12:27234975	0	T	27234975	C	T	27234975	3	4	88	1	0	0	0	0	1	0	0	0	1721	826	29	2	375	2	C12orf71	12	27234975	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82431	27234975	106616920	12689	20401											
STK38L	23012	broad.mit.edu	37	chr12	27475324	27475324	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcaattatacctataAaaggtttgaagggttgactc	7	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27475324A>C	ENST00000389032.3	+	14	1500	c.1331A>C	c.(1330-1332)aAa>aCa	p.K444T	STK38L_ENST00000539577.1_Missense_Mutation_p.K351T	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	444	AGC-kinase C-terminal.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TATACCTATAAAAGGTTTGAA	0.378													False	0	True	12:27475324	0	C	27475324	A	C	27475324	3	2	88	1	0	0	0	0	1	0	0	0	15386	14	1	4	1381	4	STK38L	12	27475324	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	240349	27475324	106376571	12690	20402											
MRPS35	60488	broad.mit.edu	37	chr12	27869269	27869269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgttgaccaggactggCctagtgtttacccagttgca	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27869269C>T	ENST00000081029.3	+	3	270	c.199C>T	c.(199-201)Cct>Tct	p.P67S	MRPS35_ENST00000538315.1_Missense_Mutation_p.P67S	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	67					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					CCAGGACTGGCCTAGTGTTTA	0.408													False	0	False	12:27869269	0	T	27869269	C	T	27869269	3	4	88	1	0	0	0	0	1	0	0	0	9911	739	26	2	209	2	MRPS35	12	27869269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	393945	27869269	105982626	12691	20403											
CCDC91	55297	broad.mit.edu	37	chr12	28459812	28459812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatctaacatacagcttcaGcaaaaaatttcaagtctgga	6	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:28459812G>A	ENST00000545336.1	+	8	824	c.405G>A	c.(403-405)caG>caA	p.Q135Q	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Silent_p.Q135Q|CCDC91_ENST00000306172.5_Silent_p.Q105Q|CCDC91_ENST00000381256.1_Silent_p.Q135Q|CCDC91_ENST00000381259.1_Silent_p.Q135Q			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	135					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TACAGCTTCAGCAAAAAATTT	0.328													False	0	False	12:28459812	0	A	28459812	G	A	28459812	2	1	88	1	0	0	0	0	0	0	0	1	2891	962	34	2		2	CCDC91	12	28459812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	590543	28459812	105392083	12692	20404											
CCDC91	55297	broad.mit.edu	37	chr12	28636989	28636989	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctcccacaaacaggaaaCtgttaaggcagcaataatag	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:28636989C>A	ENST00000545336.1	+	15	1525	c.1106C>A	c.(1105-1107)aCt>aAt	p.T369N	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Missense_Mutation_p.T333N|CCDC91_ENST00000306172.5_Missense_Mutation_p.T339N|CCDC91_ENST00000381256.1_Missense_Mutation_p.T333N|CCDC91_ENST00000381259.1_Missense_Mutation_p.T369N			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	369	Homodimerization.				protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AAACAGGAAACTGTTAAGGCA	0.398													False	0	True	12:28636989	0	A	28636989	C	A	28636989	3	1	88	1	0	0	0	0	1	0	0	0	2891	565	20	3	1148	3	CCDC91	12	28636989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177177	28636989	105214906	12693	20405											
FAR2	55711	broad.mit.edu	37	chr12	29469871	29469871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcttcacatcacagtaCtggaatgcggtcagccaccg	9	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29469871C>T	ENST00000536681.3	+	9	1299	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Silent_p.Y254Y|FAR2_ENST00000182377.4_Silent_p.Y351Y	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2						ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CATCACAGTACTGGAATGCGG	0.498													False	0	False	12:29469871	0	T	29469871	C	T	29469871	2	4	88	1	0	0	0	0	0	0	0	1	5715	576	20	2		2	FAR2	12	29469871	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	832882	29469871	104382024	12694	20406											
OVCH1	341350	broad.mit.edu	37	chr12	29624906	29624906	+	Missense_Mutation	SNP	C	C	T													ggggactaaatggagggatgCcacagacatctacagtaaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29624906C>T	ENST00000318184.5	-	16	1684	c.1685G>A	c.(1684-1686)gGc>gAc	p.G562D	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	562					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGAGGGATGCCACAGACATC	0.478													False	0	False	12:29624906	0	T	29624906	C	T	29624906	3	4	88	1	0	0	0	0	1	0	0	0	11391	739	26	2	1771	2	OVCH1	12	29624906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155035	29624906	104226989	12695	20407	229	2									
OVCH1	341350	broad.mit.edu	37	chr12	29624909	29624909	+	Missense_Mutation	SNP	C	C	T													gactaaatggagggatgccaCagacatctacagtaaagatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29624909C>T	ENST00000318184.5	-	16	1681	c.1682G>A	c.(1681-1683)tGt>tAt	p.C561Y	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	561					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGGGATGCCACAGACATCTAC	0.478													False	0	False	12:29624909	0	T	29624909	C	T	29624909	3	4	88	1	0	0	0	0	1	0	0	0	11391	478	17	2	1774	2	OVCH1	12	29624909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	29624909	104226986	12696	20408	229	2									
OVCH1	341350	broad.mit.edu	37	chr12	29629167	29629167	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttttcttcagaatcaccGtaaatcacaacagcatcata	4	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29629167G>A	ENST00000318184.5	-	13	1442	c.1443C>T	c.(1441-1443)taC>taT	p.Y481Y	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	481	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CAGAATCACCGTAAATCACAA	0.398													False	0	False	12:29629167	0	A	29629167	G	A	29629167	2	1	88	1	0	0	0	0	0	0	0	1	11391	1140	40	1		1	OVCH1	12	29629167	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4258	29629167	104222728	12697	20409											
OVCH1	341350	broad.mit.edu	37	chr12	29644056	29644056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatcttgccccatccactgGataagcaaagaattcctggt	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29644056G>A	ENST00000318184.5	-	5	523	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	175	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCATCCACTGGATAAGCAAAG	0.408													False	0	False	12:29644056	0	A	29644056	G	A	29644056	3	1	88	1	0	0	0	0	1	0	0	0	11391	1174	41	2	2976	2	OVCH1	12	29644056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14889	29644056	104207839	12698	20410											
OVCH1	341350	broad.mit.edu	37	chr12	29649590	29649590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttttcatgttgaccatgcGaattccacacttcagtcctg	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29649590G>A	ENST00000318184.5	-	2	81	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	28					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.R28C(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGACCATGCGAATTCCACAC	0.428													False	0	False	12:29649590	0	A	29649590	G	A	29649590	3	1	88	1	0	0	0	0	1	0	0	0	11391	1058	37	1	3430	1	OVCH1	12	29649590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5534	29649590	104202305	12699	20411											
TMTC1	83857	broad.mit.edu	37	chr12	29659826	29659826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtaatcgtttttctaggcGatccaatttggcaagatttt	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29659826G>A	ENST00000256062.5	-	18	2751	c.2278C>T	c.(2278-2280)Cgc>Tgc	p.R760C	TMTC1_ENST00000539277.1_Missense_Mutation_p.R868C|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930C|TMTC1_ENST00000552618.1_Missense_Mutation_p.R892C|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	868						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTTCTAGGCGATCCAATTTG	0.458													False	0	False	12:29659826	0	A	29659826	G	A	29659826	3	1	88	1	0	0	0	0	1	0	0	0	16342	1058	37	1	50	1	TMTC1	12	29659826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10236	29659826	104192069	12700	20412											
TMTC1	83857	broad.mit.edu	37	chr12	29673629	29673629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttattccagtttggtataTttcttcagcttctttaaacc	4	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29673629T>C	ENST00000256062.5	-	12	1959	c.1486A>G	c.(1486-1488)Ata>Gta	p.I496V	TMTC1_ENST00000539277.1_Missense_Mutation_p.I604V|TMTC1_ENST00000551659.1_Missense_Mutation_p.I666V|TMTC1_ENST00000552618.1_Missense_Mutation_p.I628V|TMTC1_ENST00000319685.8_5'UTR|RP11-310I24.1_ENST00000549070.1_RNA	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	604						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTTGGTATATTTCTTCAGCT	0.333													False	0	True	12:29673629	0	C	29673629	T	C	29673629	3	2	88	1	0	0	0	0	1	0	0	0	16342	1493	52	4	866	4	TMTC1	12	29673629	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13803	29673629	104178266	12701	20413											
TMTC1	83857	broad.mit.edu	37	chr12	29673650	29673650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcagcttctttaaaccGctcctttaaaaagaaagaaa	4	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29673650G>A	ENST00000256062.5	-	12	1938	c.1465C>T	c.(1465-1467)Cgg>Tgg	p.R489W	TMTC1_ENST00000539277.1_Missense_Mutation_p.R597W|TMTC1_ENST00000551659.1_Missense_Mutation_p.R659W|TMTC1_ENST00000552618.1_Missense_Mutation_p.R621W|TMTC1_ENST00000319685.8_5'UTR|RP11-310I24.1_ENST00000549070.1_RNA	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	597						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCTTTAAACCGCTCCTTTAAA	0.318													False	0	False	12:29673650	0	A	29673650	G	A	29673650	3	1	88	1	0	0	0	0	1	0	0	0	16342	1086	38	1	887	1	TMTC1	12	29673650	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	29673650	104178245	12702	20414											
TMTC1	83857	broad.mit.edu	37	chr12	29709921	29709921	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgagcgcacttgcatgGcgtggatacaacctgaaaag	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29709921G>T	ENST00000256062.5	-	10	1694	c.1221C>A	c.(1219-1221)cgC>cgA	p.R407R	TMTC1_ENST00000381224.2_Silent_p.R469R|TMTC1_ENST00000539277.1_Silent_p.R515R|TMTC1_ENST00000551659.1_Silent_p.R577R|TMTC1_ENST00000552618.1_Silent_p.R539R|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	515						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CACTTGCATGGCGTGGATACA	0.453													False	0	False	12:29709921	0	T	29709921	G	T	29709921	2	4	88	1	0	0	0	0	0	0	0	1	16342	1190	42	3		3	TMTC1	12	29709921	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36271	29709921	104141974	12703	20415											
IPO8	10526	broad.mit.edu	37	chr12	30806011	30806011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgtatgccagggaaagaAtttcttcatagaattctaga	8	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30806011A>G	ENST00000256079.4	-	18	2302	c.1964T>C	c.(1963-1965)aTt>aCt	p.I655T	IPO8_ENST00000544829.1_Missense_Mutation_p.I450T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	655					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGGGAAAGAATTTCTTCATA	0.378													False	0	True	12:30806011	0	G	30806011	A	G	30806011	3	3	88	1	0	0	0	0	1	0	0	0	7848	101	4	4	1181	4	IPO8	12	30806011	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1096090	30806011	103045884	12704	20416											
IPO8	10526	broad.mit.edu	37	chr12	30823918	30823918	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtgtggcttcatctgcTtccaggttatagaatgaacc	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30823918T>G	ENST00000256079.4	-	9	1360	c.1022A>C	c.(1021-1023)aAg>aCg	p.K341T	IPO8_ENST00000544829.1_Missense_Mutation_p.K136T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	341					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTCATCTGCTTCCAGGTTAT	0.378													False	0	False	12:30823918	0	G	30823918	T	G	30823918	3	3	88	1	0	0	0	0	1	0	0	0	7848	1609	56	4	2159	4	IPO8	12	30823918	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17907	30823918	103027977	12705	20417											
CAPRIN2	65981	broad.mit.edu	37	chr12	30863426	30863426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttattagcaacagtgaGtttctcataatgaagcagtt	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30863426G>A	ENST00000395805.2	-	17	3217	c.2670C>T	c.(2668-2670)aaC>aaT	p.N890N	CAPRIN2_ENST00000308433.5_Intron|CAPRIN2_ENST00000417045.1_Silent_p.N945N|CAPRIN2_ENST00000251071.5_Intron|CAPRIN2_ENST00000298892.5_Intron	NM_001206856.1	NP_001193785.1	Q6IMN6	CAPR2_HUMAN	caprin family member 2	0					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCAACAGTGAGTTTCTCATAA	0.383													False	0	True	12:30863426	0	A	30863426	G	A	30863426	2	1	88	1	0	0	0	0	0	0	0	1	2656	1044	36	2		2	CAPRIN2	12	30863426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39508	30863426	102988469	12706	20418											
CAPRIN2	65981	broad.mit.edu	37	chr12	30873798	30873798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatccagaagaagcctgatCggtagtaaccaagcaagcat	10	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30873798C>T	ENST00000251071.5	-	12	2845	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.D366N|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.D699N|CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.D699N	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	699					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGCCTGATCGGTAGTAACC	0.368													False	0	False	12:30873798	0	T	30873798	C	T	30873798	3	4	88	1	0	0	0	0	1	0	0	0	2656	884	31	1	1316	1	CAPRIN2	12	30873798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10372	30873798	102978097	12707	20419											
CAPRIN2	65981	broad.mit.edu	37	chr12	30878969	30878969	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttcctcaatactggAtccttcggaagggtagagga	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30878969A>G	ENST00000251071.5	-	9	2586	c.1836T>C	c.(1834-1836)gaT>gaC	p.D612D	CAPRIN2_ENST00000308433.5_Silent_p.D279D|CAPRIN2_ENST00000417045.1_Silent_p.D612D|CAPRIN2_ENST00000395805.2_Silent_p.D612D|CAPRIN2_ENST00000298892.5_Silent_p.D612D	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	612					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAATACTGGATCCTTCGGAA	0.383													False	0	False	12:30878969	0	G	30878969	A	G	30878969	2	3	88	1	0	0	0	0	0	0	0	1	2656	330	12	4		4	CAPRIN2	12	30878969	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5171	30878969	102972926	12708	20420											
CAPRIN2	65981	broad.mit.edu	37	chr12	30906676	30906676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctcgaaacccaatgatgCttgagatacttgtacttcca	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30906676C>T	ENST00000251071.5	-	1	772	c.22G>A	c.(22-24)Gca>Aca	p.A8T	CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A8T|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.A8T|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A8T	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	8					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCCAATGATGCTTGAGATACT	0.433											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:30906676	0	T	30906676	C	T	30906676	3	4	88	1	0	0	0	0	1	0	0	0	2656	797	28	2	3433	2	CAPRIN2	12	30906676	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27707	30906676	102945219	12709	20421											
TSPAN11	441631	broad.mit.edu	37	chr12	31136041	31136041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagttcctggccgaccacCtgctgcttatgggggcagtg	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31136041C>A	ENST00000261177.9	+	7	717	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	TSPAN11_ENST00000544427.1_Missense_Mutation_p.L210M|TSPAN11_ENST00000546076.1_Missense_Mutation_p.L220M|TSPAN11_ENST00000535215.1_Missense_Mutation_p.L149M	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	220						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGCCGACCACCTGCTGCTTAT	0.662													False	0	False	12:31136041	0	A	31136041	C	A	31136041	3	1	88	1	0	0	0	0	1	0	0	0	16718	680	24	3	680	3	TSPAN11	12	31136041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229365	31136041	102715854	12710	20422											
DDX11	1663	broad.mit.edu	37	chr12	31254899	31254899	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agggtggcctgctgggccgtCtggctgccaggaagaaggtg	19	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31254899C>A	ENST00000407793.2	+	21	2436	c.2185C>A	c.(2185-2187)Ctg>Atg	p.L729M	DDX11_ENST00000542838.1_Missense_Mutation_p.L729M|DDX11_ENST00000228264.6_Missense_Mutation_p.L703M|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.L729M	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	729					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCTGGGCCGTCTGGCTGCCAG	0.637										Multiple Myeloma(12;0.14)			False	0	False	12:31254899	0	A	31254899	C	A	31254899	3	1	88	1	0	0	0	0	1	0	0	0	4368	912	32	3	2263	3	DDX11	12	31254899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118858	31254899	102596996	12711	20423											
DDX11	1663	broad.mit.edu	37	chr12	31255888	31255888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtgtggtgatggtgggCatgcccttccccaacatcag	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31255888C>T	ENST00000407793.2	+	24	2642	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	DDX11_ENST00000542838.1_Silent_p.G797G|DDX11_ENST00000228264.6_Silent_p.G771G|DDX11_ENST00000350437.4_Silent_p.G747G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Silent_p.G797G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	797					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGGTGGGCATGCCCTTCC	0.607										Multiple Myeloma(12;0.14)			False	0	True	12:31255888	0	T	31255888	C	T	31255888	2	4	88	1	0	0	0	0	0	0	0	1	4368	697	25	2		2	DDX11	12	31255888	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	989	31255888	102596007	12712	20424											
DENND5B	160518	broad.mit.edu	37	chr12	31600696	31600696	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggctggtcagacagaAaggaagcctgtaatgagata	13	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31600696A>G	ENST00000389082.5	-	6	1901	c.1637T>C	c.(1636-1638)tTt>tCt	p.F546S	DENND5B_ENST00000354285.4_Missense_Mutation_p.F568S|DENND5B_ENST00000536562.1_Missense_Mutation_p.F581S|DENND5B_ENST00000306833.6_Missense_Mutation_p.F581S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	546	dDENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTCAGACAGAAAGGAAGCCTG	0.378													False	0	True	12:31600696	0	G	31600696	A	G	31600696	3	3	88	1	0	0	0	0	1	0	0	0	4467	14	1	4	2251	4	DENND5B	12	31600696	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	344808	31600696	102251199	12713	20425											
AMN1	196394	broad.mit.edu	37	chr12	31862326	31862327	+	In_Frame_Ins	INS	-	-	GGTTTTAGATTTTTGGAACAATGGTATATGGTAAGA													gcttaatgtctgtgagatatINSctggaaatattcttcatgaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31862326_31862327insGGTTTTAGATTTTTGGAACAATGGTATATGGTAAGA	ENST00000537562.1	-	5	472_473	c.17_18insTCTTACCATATACCATTGTTCCAAAAATCTAAAACC	c.(16-18)aga>agTCTTACCATATACCATTGTTCCAAAAATCTAAAACCa	p.6_6R>SLTIYHCSKNLKP	AMN1_ENST00000542781.1_Intron|AMN1_ENST00000541541.1_5'UTR|AMN1_ENST00000536761.1_In_Frame_Ins_p.6_6R>SLTIYHCSKNLKP|AMN1_ENST00000281471.6_In_Frame_Ins_p.24_24R>SLTIYHCSKNLKP|AMN1_ENST00000541931.1_Intron			Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	24										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CTGTGAGATATCTGGAAATATT	0.361													False	0	False	12:31862326	0	GGTTTTAGATTTTTGGAACAATGGTATATGGTAAGA	31862327	-	GGTTTTAGATTTTTGGAACAATGGTATATGGTAAGA	31862326	7	5	88	1	0	1	1	0	0	0	0	0	581	1432	50	0	728	0	AMN1	12	31862326	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	261630	31862326	101989569	12714	20426											
BICD1	636	broad.mit.edu	37	chr12	32481286	32481286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaccttaatgccataatcCgggaccaaatcaagcatctg	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32481286C>T	ENST00000548411.1	+	5	2078	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	BICD1_ENST00000281474.5_Missense_Mutation_p.R633W	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	633					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TGCCATAATCCGGGACCAAAT	0.483													False	0	True	12:32481286	0	T	32481286	C	T	32481286	3	4	88	1	0	0	0	0	1	0	0	0	1433	643	23	1	1915	1	BICD1	12	32481286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	618960	32481286	101370609	12715	20427											
BICD1	636	broad.mit.edu	37	chr12	32490443	32490443	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggttccagatgtgatgaaTatgtcacccagttggatgag	12	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32490443T>C	ENST00000548411.1	+	7	2444	c.2263T>C	c.(2263-2265)Tat>Cat	p.Y755H	BICD1_ENST00000281474.5_Missense_Mutation_p.Y755H	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	755	Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ATGTGATGAATATGTCACCCA	0.403													False	0	False	12:32490443	0	C	32490443	T	C	32490443	3	2	88	1	0	0	0	0	1	0	0	0	1433	1406	49	4	2289	4	BICD1	12	32490443	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9157	32490443	101361452	12716	20428											
FGD4	121512	broad.mit.edu	37	chr12	32772647	32772647	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttcaacaacatgttgCtgtactgtgtgcccaaattc	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32772647C>A	ENST00000427716.2	+	11	1778	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	FGD4_ENST00000546442.1_Missense_Mutation_p.L359M|FGD4_ENST00000525053.1_Missense_Mutation_p.L564M|FGD4_ENST00000531134.1_Missense_Mutation_p.L537M|FGD4_ENST00000381025.3_Missense_Mutation_p.L204M|FGD4_ENST00000266482.3_Missense_Mutation_p.L204M|FGD4_ENST00000534526.2_Missense_Mutation_p.L589M	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	452	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CAACATGTTGCTGTACTGTGT	0.393													False	0	False	12:32772647	0	A	32772647	C	A	32772647	3	1	88	1	0	0	0	0	1	0	0	0	5875	796	28	3	1388	3	FGD4	12	32772647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282204	32772647	101079248	12717	20429											
FGD4	121512	broad.mit.edu	37	chr12	32772752	32772752	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agactcaaaatgaagaatatCcacatactttccaggtgtct	6	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32772752C>A	ENST00000427716.2	+	11	1883	c.1459C>A	c.(1459-1461)Cca>Aca	p.P487T	FGD4_ENST00000546442.1_Missense_Mutation_p.P394T|FGD4_ENST00000525053.1_Missense_Mutation_p.P599T|FGD4_ENST00000531134.1_Missense_Mutation_p.P572T|FGD4_ENST00000381025.3_Missense_Mutation_p.P239T|FGD4_ENST00000266482.3_Missense_Mutation_p.P239T|FGD4_ENST00000534526.2_Missense_Mutation_p.P624T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	487	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGAAGAATATCCACATACTTT	0.438													False	0	False	12:32772752	0	A	32772752	C	A	32772752	3	1	88	1	0	0	0	0	1	0	0	0	5875	855	30	3	1493	3	FGD4	12	32772752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105	32772752	101079143	12718	20430											
FGD4	121512	broad.mit.edu	37	chr12	32778624	32778624	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagagccccaagatggatcCgagataatgaagtgacaatg	11	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32778624C>T	ENST00000427716.2	+	14	2096	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	FGD4_ENST00000546442.1_Nonsense_Mutation_p.R465*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.R670*|FGD4_ENST00000531134.1_Nonsense_Mutation_p.R643*|FGD4_ENST00000266482.3_Nonsense_Mutation_p.R310*|FGD4_ENST00000534526.2_Nonsense_Mutation_p.R695*	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	558					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAGATGGATCCGAGATAATGA	0.353													False	0	False	12:32778624	0	T	32778624	C	T	32778624	4	4	88	1	0	0	0	0	0	1	0	0	5875	644	23	1	1718	1	FGD4	12	32778624	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5872	32778624	101073271	12719	20431											
DNM1L	10059	broad.mit.edu	37	chr12	32884840	32884840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagttgaagtggtgacttGtcttcttcgtaaaaggttgc	11	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32884840G>A	ENST00000452533.2	+	12	1573	c.1409G>A	c.(1408-1410)tGt>tAt	p.C470Y	DNM1L_ENST00000549701.1_Missense_Mutation_p.C470Y|DNM1L_ENST00000414834.2_Missense_Mutation_p.C267Y|DNM1L_ENST00000547312.1_Missense_Mutation_p.C470Y|DNM1L_ENST00000358214.5_Missense_Mutation_p.C483Y|DNM1L_ENST00000381000.4_Missense_Mutation_p.C483Y|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000266481.6_Missense_Mutation_p.C470Y|DNM1L_ENST00000553257.1_Missense_Mutation_p.C483Y	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	470	Interaction with GSK3B.|Middle domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTGGTGACTTGTCTTCTTCGT	0.313													False	0	False	12:32884840	0	A	32884840	G	A	32884840	3	1	88	1	0	0	0	0	1	0	0	0	4701	1377	48	2	1455	2	DNM1L	12	32884840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106216	32884840	100967055	12720	20432											
DNM1L	10059	broad.mit.edu	37	chr12	32895632	32895632	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tattggatgatcttctgacaGaatctgaggacatggcacag	11	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32895632G>T	ENST00000452533.2	+	18	2190	c.2026G>T	c.(2026-2028)Gaa>Taa	p.E676*	DNM1L_ENST00000549701.1_Nonsense_Mutation_p.E702*|DNM1L_ENST00000414834.2_Nonsense_Mutation_p.E499*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.E691*|DNM1L_ENST00000358214.5_Nonsense_Mutation_p.E678*|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.E704*|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.E665*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.E715*	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	702	GED.|Interaction with GSK3B.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCTTCTGACAGAATCTGAGGA	0.393													False	0	False	12:32895632	0	T	32895632	G	T	32895632	4	4	88	1	0	0	0	0	0	1	0	0	4701	943	33	3	2178	3	DNM1L	12	32895632	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10792	32895632	100956263	12721	20433											
PKP2	5318	broad.mit.edu	37	chr12	33003785	33003785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatttagttcagccacctcCaatttgttgtcattgtcttc	5	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33003785C>A	ENST00000340811.4	-	5	1401	c.1293G>T	c.(1291-1293)ttG>ttT	p.L431F	PKP2_ENST00000070846.6_Missense_Mutation_p.L431F	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	431					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CAGCCACCTCCAATTTGTTGT	0.448													False	0	False	12:33003785	0	A	33003785	C	A	33003785	3	1	88	1	0	0	0	0	1	0	0	0	12054	593	21	3	1392	3	PKP2	12	33003785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108153	33003785	100848110	12722	20434											
PKP2	5318	broad.mit.edu	37	chr12	33031179	33031179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtatgtgtcaaagtggCgctgcctgcttgtggtgcca	15	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33031179C>T	ENST00000340811.4	-	3	743	c.635G>A	c.(634-636)cGc>cAc	p.R212H	PKP2_ENST00000070846.6_Missense_Mutation_p.R212H	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	212					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTCAAAGTGGCGCTGCCTGCT	0.612													False	0	False	12:33031179	0	T	33031179	C	T	33031179	3	4	88	1	0	0	0	0	1	0	0	0	12054	768	27	1	2058	1	PKP2	12	33031179	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27394	33031179	100820716	12723	20435											
SYT10	341359	broad.mit.edu	37	chr12	33559978	33559978	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttttcctatctggaagaaGatacatcttcacataagggt	7	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33559978G>T	ENST00000228567.3	-	3	1119	c.823C>A	c.(823-825)Ctt>Att	p.L275I	SYT10_ENST00000535526.1_Missense_Mutation_p.L94I	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	275	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTGGAAGAAGATACATCTTC	0.343													False	0	False	12:33559978	0	T	33559978	G	T	33559978	3	4	88	1	0	0	0	0	1	0	0	0	15548	942	33	3	768	3	SYT10	12	33559978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	528799	33559978	100291917	12724	20436											
SYT10	341359	broad.mit.edu	37	chr12	33579114	33579114	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatttgtctttgcacacgTgcatgtttaattaaatgttc	7	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33579114T>C	ENST00000228567.3	-	2	764	c.468A>G	c.(466-468)gcA>gcG	p.A156A	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	156						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTGCACACGTGCATGTTTAA	0.413													False	0	False	12:33579114	0	C	33579114	T	C	33579114	2	2	88	1	0	0	0	0	0	0	0	1	15548	1683	59	4		4	SYT10	12	33579114	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19136	33579114	100272781	12725	20437											
ALG10	84920	broad.mit.edu	37	chr12	34178927	34178927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctttttgcgtatttgatgTgtctttatggaaatcataaa	7	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:34178927T>C	ENST00000266483.2	+	3	818	c.499T>C	c.(499-501)Tgt>Cgt	p.C167R	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	167					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTATTTGATGTGTCTTTATGG	0.338													False	0	False	12:34178927	0	C	34178927	T	C	34178927	3	2	88	1	0	0	0	0	1	0	0	0	511	1696	59	4	509	4	ALG10	12	34178927	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	599813	34178927	99672968	12726	20438											
ALG10B	144245	broad.mit.edu	37	chr12	38710827	38710827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatcttccacctgcctcaGgcgcagcgctactgtgaggg	13	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:38710827G>A	ENST00000308742.4	+	1	448	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ALG10B_ENST00000551464.1_Silent_p.Q44Q	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	44					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				ACCTGCCTCAGGCGCAGCGCT	0.632													False	0	False	12:38710827	0	A	38710827	G	A	38710827	2	1	88	1	0	0	0	0	0	0	0	1	512	991	35	2		2	ALG10B	12	38710827	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4531900	38710827	95141068	12727	20439											
ALG10B	144245	broad.mit.edu	37	chr12	38714900	38714900	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactctgcctcccacatccaGacttgtttgtgaactgagtt	7	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:38714900G>A	ENST00000308742.4	+	3	1623	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	436					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCCACATCCAGACTTGTTTGT	0.348													False	0	False	12:38714900	0	A	38714900	G	A	38714900	3	1	88	1	0	0	0	0	1	0	0	0	512	942	33	2	1317	2	ALG10B	12	38714900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4073	38714900	95136995	12728	20440											
KIF21A	55605	broad.mit.edu	37	chr12	39711958	39711958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacggggccggcttggtggGgaagaaggaggtgaaagact	19	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:39711958G>A	ENST00000395670.3	-	28	4244	c.3825C>T	c.(3823-3825)tcC>tcT	p.S1275S	KIF21A_ENST00000547745.1_Intron|KIF21A_ENST00000541463.2_Silent_p.S1239S|KIF21A_ENST00000361961.3_Silent_p.S1262S|KIF21A_ENST00000544797.2_Silent_p.S1255S|KIF21A_ENST00000361418.5_Silent_p.S1275S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1275					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GGCTTGGTGGGGAAGAAGGAG	0.398													False	0	True	12:39711958	0	A	39711958	G	A	39711958	2	1	88	1	0	0	0	0	0	0	0	1	8338	1219	43	2		2	KIF21A	12	39711958	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	997058	39711958	94139937	12729	20441											
KIF21A	55605	broad.mit.edu	37	chr12	39713771	39713771	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctttctccttgttacaggaGaaggctctggaatttttttt	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:39713771G>T	ENST00000395670.3	-	27	4135	c.3716C>A	c.(3715-3717)tCt>tAt	p.S1239Y	KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1203Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1226Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1219Y|KIF21A_ENST00000361418.5_Missense_Mutation_p.S1239Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1239					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGTTACAGGAGAAGGCTCTGG	0.338													False	0	False	12:39713771	0	T	39713771	G	T	39713771	3	4	88	1	0	0	0	0	1	0	0	0	8338	942	33	3	1352	3	KIF21A	12	39713771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1813	39713771	94138124	12730	20442											
ABCD2	225	broad.mit.edu	37	chr12	40012798	40012798	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcctccgtaagagattggTcagggtttgccagcctccca	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40012798T>C	ENST00000308666.3	-	1	755	c.620A>G	c.(619-621)gAc>gGc	p.D207G		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	207	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AAGAGATTGGTCAGGGTTTGC	0.413													False	0	False	12:40012798	0	C	40012798	T	C	40012798	3	2	88	1	0	0	0	0	1	0	0	0	61	1667	58	4	1642	4	ABCD2	12	40012798	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	299027	40012798	93839097	12731	20443											
C12orf40	283461	broad.mit.edu	37	chr12	40044117	40044117	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcagtccatcacataAaactacacgatttgggacat	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40044117A>C	ENST00000324616.5	+	7	801	c.647A>C	c.(646-648)aAa>aCa	p.K216T	C12orf40_ENST00000405531.3_Missense_Mutation_p.K216T|C12orf40_ENST00000398716.1_Missense_Mutation_p.K139T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	216										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CCATCACATAAAACTACACGA	0.318													False	0	True	12:40044117	0	C	40044117	A	C	40044117	3	2	88	1	0	0	0	0	1	0	0	0	1695	14	1	4	673	4	C12orf40	12	40044117	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31319	40044117	93807778	12732	20444											
SLC2A13	114134	broad.mit.edu	37	chr12	40223918	40223918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatatacctgccccaggctgCctcatttgtagatgctttat	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40223918C>A	ENST00000280871.4	-	7	1482	c.1432G>T	c.(1432-1434)Gca>Tca	p.A478S		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	478						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCCCAGGCTGCCTCATTTGTA	0.378										HNSCC(50;0.14)			False	0	False	12:40223918	0	A	40223918	C	A	40223918	3	1	88	1	0	0	0	0	1	0	0	0	14622	739	26	3	530	3	SLC2A13	12	40223918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179801	40223918	93627977	12733	20445											
SLC2A13	114134	broad.mit.edu	37	chr12	40499124	40499124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggccgcagccagcaccgCggagccggcggtgaagaggg	19	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40499124C>T	ENST00000280871.4	-	1	537	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	SLC2A13_ENST00000380858.1_Missense_Mutation_p.A163T	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	163						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCCAGCACCGCGGAGCCGGCG	0.741										HNSCC(50;0.14)			False	0	False	12:40499124	0	T	40499124	C	T	40499124	3	4	88	1	0	0	0	0	1	0	0	0	14622	768	27	1	1499	1	SLC2A13	12	40499124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275206	40499124	93352771	12734	20446											
LRRK2	120892	broad.mit.edu	37	chr12	40637414	40637414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatattgtggtggaagctAtgaaagcattccctatgagt	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40637414A>G	ENST00000298910.7	+	7	827	c.769A>G	c.(769-771)Atg>Gtg	p.M257V	LRRK2_ENST00000343742.2_Missense_Mutation_p.M257V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	257					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.M257V(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGTGGAAGCTATGAAAGCATT	0.363													False	0	False	12:40637414	0	G	40637414	A	G	40637414	3	3	88	1	0	0	0	0	1	0	0	0	9095	449	16	4	795	4	LRRK2	12	40637414	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	138290	40637414	93214481	12735	20447											
LRRK2	120892	broad.mit.edu	37	chr12	40653291	40653291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatccccagcaacacttcCctggatataatggcagcagt	7	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40653291C>T	ENST00000298910.7	+	13	1486	c.1428C>T	c.(1426-1428)tcC>tcT	p.S476S	LRRK2_ENST00000343742.2_Silent_p.S476S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	476					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCAACACTTCCCTGGATATAA	0.418													False	0	True	12:40653291	0	T	40653291	C	T	40653291	2	4	88	1	0	0	0	0	0	0	0	1	9095	610	22	2		2	LRRK2	12	40653291	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15877	40653291	93198604	12736	20448											
LRRK2	120892	broad.mit.edu	37	chr12	40693003	40693003	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catttcatccctatcagagaActttcttgaggcttgtccta	6	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40693003A>G	ENST00000298910.7	+	25	3498	c.3440A>G	c.(3439-3441)aAc>aGc	p.N1147S	LRRK2_ENST00000343742.2_Missense_Mutation_p.N1147S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1147					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTATCAGAGAACTTTCTTGAG	0.418													False	0	False	12:40693003	0	G	40693003	A	G	40693003	3	3	88	1	0	0	0	0	1	0	0	0	9095	43	2	4	3538	4	LRRK2	12	40693003	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39712	40693003	93158892	12737	20449											
LRRK2	120892	broad.mit.edu	37	chr12	40697802	40697802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtacctaccaggtcccGcacactggaaatctttgaac	7	13	2	1	rs143710836		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40697802G>A	ENST00000298910.7	+	27	3701	c.3643G>A	c.(3643-3645)Gca>Aca	p.A1215T	LRRK2_ENST00000343742.2_Missense_Mutation_p.A1215T	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1215					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCAGGTCCCGCACACTGGAA	0.368													False	0	True	12:40697802	0	A	40697802	G	A	40697802	3	1	88	1	0	0	0	0	1	0	0	0	9095	1087	38	1	3749	1	LRRK2	12	40697802	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4799	40697802	93154093	12738	20450											
LRRK2	120892	broad.mit.edu	37	chr12	40704345	40704345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaggaactcctgaataagcGagggttccctgccatacgag	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40704345G>A	ENST00000298910.7	+	31	4488	c.4430G>A	c.(4429-4431)cGa>cAa	p.R1477Q		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1477	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGAATAAGCGAGGGTTCCCT	0.453													False	0	False	12:40704345	0	A	40704345	G	A	40704345	3	1	88	1	0	0	0	0	1	0	0	0	9095	1058	37	1	4552	1	LRRK2	12	40704345	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6543	40704345	93147550	12739	20451											
CNTN1	1272	broad.mit.edu	37	chr12	41333262	41333262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttttcatggagtaaagggAcagagtggcttgtcaatagc	13	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41333262A>G	ENST00000551295.2	+	12	1471	c.1354A>G	c.(1354-1356)Aca>Gca	p.T452A	CNTN1_ENST00000547849.1_Missense_Mutation_p.T452A|CNTN1_ENST00000348761.2_Missense_Mutation_p.T441A|CNTN1_ENST00000347616.1_Missense_Mutation_p.T452A|CNTN1_ENST00000360099.3_Missense_Mutation_p.T452A|CNTN1_ENST00000547702.1_Missense_Mutation_p.T452A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	452	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGTAAAGGGACAGAGTGGCT	0.378													False	0	True	12:41333262	0	G	41333262	A	G	41333262	3	3	88	1	0	0	0	0	1	0	0	0	3663	275	10	4	1396	4	CNTN1	12	41333262	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	628917	41333262	92518633	12740	20452											
CNTN1	1272	broad.mit.edu	37	chr12	41387041	41387041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaggagagcccagtataCcatctaacagaattaaaaca	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41387041C>T	ENST00000551295.2	+	17	2200	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	CNTN1_ENST00000348761.2_Missense_Mutation_p.P684S|CNTN1_ENST00000347616.1_Missense_Mutation_p.P695S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	695	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCCCAGTATACCATCTAACAG	0.393													False	0	False	12:41387041	0	T	41387041	C	T	41387041	3	4	88	1	0	0	0	0	1	0	0	0	3663	507	18	2	2145	2	CNTN1	12	41387041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53779	41387041	92464854	12741	20453											
CNTN1	1272	broad.mit.edu	37	chr12	41410595	41410595	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactaatcctgatactggcCgatatgtccataaagatgaa	7	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41410595C>T	ENST00000551295.2	+	19	2413	c.2296C>T	c.(2296-2298)Cga>Tga	p.R766*	CNTN1_ENST00000348761.2_Nonsense_Mutation_p.R755*|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.R766*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	766	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGATACTGGCCGATATGTCCA	0.403													False	0	False	12:41410595	0	T	41410595	C	T	41410595	4	4	88	1	0	0	0	0	0	1	0	0	3663	644	23	1	2366	1	CNTN1	12	41410595	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23554	41410595	92441300	12742	20454											
CNTN1	1272	broad.mit.edu	37	chr12	41414236	41414236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagaaaaaatagtggaaagCtatcaggtacgttaaatttt	8	3	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41414236C>T	ENST00000551295.2	+	20	2634	c.2517C>T	c.(2515-2517)agC>agT	p.S839S	CNTN1_ENST00000348761.2_Silent_p.S828S|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Silent_p.S839S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	839	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAGTGGAAAGCTATCAGGTAC	0.313													False	0	False	12:41414236	0	T	41414236	C	T	41414236	2	4	88	1	0	0	0	0	0	0	0	1	3663	796	28	2		2	CNTN1	12	41414236	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3641	41414236	92437659	12743	20455											
PDZRN4	29951	broad.mit.edu	37	chr12	41900458	41900458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatcatggctctggccaaGcttcgtccacctacccctcc	6	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41900458G>T	ENST00000298919.7	+	4	652	c.264G>T	c.(262-264)aaG>aaT	p.K88N	PDZRN4_ENST00000402685.2_Missense_Mutation_p.K348N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K90N			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	348							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTCTGGCCAAGCTTCGTCCAC	0.488													False	0	False	12:41900458	0	T	41900458	G	T	41900458	3	4	88	1	0	0	0	0	1	0	0	0	11778	962	34	3	1131	3	PDZRN4	12	41900458	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	486222	41900458	91951437	12744	20456											
PDZRN4	29951	broad.mit.edu	37	chr12	41949534	41949534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgctgccaaagacggccGgattcgagaaggggatcgga	15	9	0	2	rs138596022		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41949534G>A	ENST00000298919.7	+	7	945	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	PDZRN4_ENST00000402685.2_Missense_Mutation_p.R446Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R188Q			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	446							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAAGACGGCCGGATTCGAGAA	0.398													False	0	False	12:41949534	0	A	41949534	G	A	41949534	3	1	88	1	0	0	0	0	1	0	0	0	11778	1116	39	1	1436	1	PDZRN4	12	41949534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49076	41949534	91902361	12745	20457											
GXYLT1	283464	broad.mit.edu	37	chr12	42499768	42499768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccattgcagcaatttgtGtggaattaaatttctttagt	9	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42499768G>A	ENST00000398675.3	-	5	948	c.716C>T	c.(715-717)aCa>aTa	p.T239I	GXYLT1_ENST00000280876.6_Missense_Mutation_p.T208I	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	239					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AGCAATTTGTGTGGAATTAAA	0.368													False	0	True	12:42499768	0	A	42499768	G	A	42499768	3	1	88	1	0	0	0	0	1	0	0	0	6950	1377	48	2	622	2	GXYLT1	12	42499768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	550234	42499768	91352127	12746	20458											
ZCRB1	85437	broad.mit.edu	37	chr12	42706924	42706924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttttctttatccttgggCgtcttgaatcatctgatgtt	8	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42706924C>T	ENST00000266529.3	-	8	782	c.599G>A	c.(598-600)cGc>cAc	p.R200H	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.R159H	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	200					mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TATCCTTGGGCGTCTTGAATC	0.353													False	0	True	12:42706924	0	T	42706924	C	T	42706924	3	4	88	1	0	0	0	0	1	0	0	0	17679	768	27	1	58	1	ZCRB1	12	42706924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207156	42706924	91144971	12747	20459											
PRICKLE1	0	broad.mit.edu	37	chr12	42862549	42862549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattacacgtgaaacagacaAaacaggatgggtgccagcac	10	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42862549A>G	ENST00000455697.1	-	5	752	c.467T>C	c.(466-468)tTt>tCt	p.F156S	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.F156S|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.F156S|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.F156S|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.F156S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	156	LIM zinc-binding 1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GAAACAGACAAAACAGGATGG	0.483													False	0	True	12:42862549	0	G	42862549	A	G	42862549	3	3	88	1	0	0	0	0	1	0	0	0	12562	14	1	4	2044	4	PRICKLE1	12	42862549	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155625	42862549	90989346	12748	20460											
ADAMTS20	80070	broad.mit.edu	37	chr12	43777426	43777426	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctgcaattcttggatgtaaGagatatggttgaagaattat	10	4	1	3	rs138413325		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43777426G>T	ENST00000389420.3	-	31	4731	c.4732C>A	c.(4732-4734)Ctt>Att	p.L1578I		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1578	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGGATGTAAGAGATATGGTT	0.373													False	0	False	12:43777426	0	T	43777426	G	T	43777426	3	4	88	1	0	0	0	0	1	0	0	0	266	942	33	3	1035	3	ADAMTS20	12	43777426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	914877	43777426	90074469	12749	20461											
ADAMTS20	80070	broad.mit.edu	37	chr12	43821235	43821235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcatcctggcagaccacaGccctatgctgaagacctcca	7	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43821235G>T	ENST00000389420.3	-	27	3982	c.3983C>A	c.(3982-3984)gCt>gAt	p.A1328D	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A446D|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1328D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1328	TSP type-1 9.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCAGACCACAGCCCTATGCTG	0.473													False	0	True	12:43821235	0	T	43821235	G	T	43821235	3	4	88	1	0	0	0	0	1	0	0	0	266	971	34	3	1800	3	ADAMTS20	12	43821235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43809	43821235	90030660	12750	20462											
ADAMTS20	80070	broad.mit.edu	37	chr12	43886389	43886389	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgccatgaacaaaagTtctttaatgtggtagcacca	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43886389T>G	ENST00000389420.3	-	6	994	c.995A>C	c.(994-996)aAc>aCc	p.N332T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N332T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	332	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGAACAAAAGTTCTTTAATGT	0.363													False	0	False	12:43886389	0	G	43886389	T	G	43886389	3	3	88	1	0	0	0	0	1	0	0	0	266	1725	60	4	4872	4	ADAMTS20	12	43886389	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65154	43886389	89965506	12751	20463											
PUS7L	83448	broad.mit.edu	37	chr12	44148466	44148466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatttggttttacaacaaTttcactgttttttcctacag	5	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44148466T>C	ENST00000416848.2	-	2	1071	c.583A>G	c.(583-585)Att>Gtt	p.I195V	PUS7L_ENST00000551923.1_Missense_Mutation_p.I195V|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.I195V|PUS7L_ENST00000553166.1_Missense_Mutation_p.I195V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	195					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTTACAACAATTTCACTGTTT	0.323													False	0	True	12:44148466	0	C	44148466	T	C	44148466	3	2	88	1	0	0	0	0	1	0	0	0	12913	1493	52	4	1554	4	PUS7L	12	44148466	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	262077	44148466	89703429	12752	20464											
IRAK4	51135	broad.mit.edu	37	chr12	44166052	44166052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttcagcaaaaacagatgcCtttctgtgacaaagacagga	9	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44166052C>A	ENST00000431837.1	+	3	313	c.5C>A	c.(4-6)cCt>cAt	p.P2H	IRAK4_ENST00000448290.2_Missense_Mutation_p.P126H|IRAK4_ENST00000440781.2_Missense_Mutation_p.P2H|IRAK4_ENST00000551736.1_Missense_Mutation_p.P126H	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	126					innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AAACAGATGCCTTTCTGTGAC	0.373													False	0	True	12:44166052	0	A	44166052	C	A	44166052	3	1	88	1	0	0	0	0	1	0	0	0	7875	681	24	3	387	3	IRAK4	12	44166052	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17586	44166052	89685843	12753	20465											
TWF1	5756	broad.mit.edu	37	chr12	44191256	44191256	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattttttatatctatttcCtgccaataagaaacaaaata	2	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44191256C>T	ENST00000395510.2	-	7	739		c.e7-1		TWF1_ENST00000552521.1_Splice_Site|TWF1_ENST00000325127.4_Splice_Site|TWF1_ENST00000548315.1_Splice_Site	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1							actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TATCTATTTCCTGCCAATAAG	0.299													False	0	False	12:44191256	0	T	44191256	C	T	44191256	5	4	88	1	0	0	0	0	0	0	1	0	16865	695	24	2	455	2	TWF1	12	44191256	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25204	44191256	89660639	12754	20466											
NELL2	4753	broad.mit.edu	37	chr12	44913879	44913879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcgtccaggcaagtcttgGtgatgtcattgcggatggtg	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44913879G>A	ENST00000429094.2	-	19	2813	c.2309C>T	c.(2308-2310)aCc>aTc	p.T770I	NELL2_ENST00000395487.2_Missense_Mutation_p.T769I|NELL2_ENST00000437801.2_Missense_Mutation_p.T820I|NELL2_ENST00000549027.1_Missense_Mutation_p.T769I|NELL2_ENST00000333837.4_Missense_Mutation_p.T793I|NELL2_ENST00000452445.2_Missense_Mutation_p.T770I|NELL2_ENST00000551601.1_Missense_Mutation_p.T722I	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	770	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCAAGTCTTGGTGATGTCATT	0.532													False	0	False	12:44913879	0	A	44913879	G	A	44913879	3	1	88	1	0	0	0	0	1	0	0	0	10402	1261	44	2	149	2	NELL2	12	44913879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	722623	44913879	88938016	12755	20467											
NELL2	4753	broad.mit.edu	37	chr12	44913995	44913995	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcaaggcaggggccaAcaatcaacttccccttgcta	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44913995A>G	ENST00000429094.2	-	19	2697	c.2193T>C	c.(2191-2193)tgT>tgC	p.C731C	NELL2_ENST00000395487.2_Silent_p.C730C|NELL2_ENST00000437801.2_Silent_p.C781C|NELL2_ENST00000549027.1_Silent_p.C730C|NELL2_ENST00000333837.4_Silent_p.C754C|NELL2_ENST00000452445.2_Silent_p.C731C|NELL2_ENST00000551601.1_Silent_p.C683C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	731	VWFC 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCAGGGGCCAACAATCAACTT	0.557													False	0	False	12:44913995	0	G	44913995	A	G	44913995	2	3	88	1	0	0	0	0	0	0	0	1	10402	41	2	4		4	NELL2	12	44913995	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116	44913995	88937900	12756	20468											
NELL2	4753	broad.mit.edu	37	chr12	45105088	45105088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttacctttacaaactttGcaacagctgtgagacaaggt	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45105088G>A	ENST00000429094.2	-	11	1680	c.1176C>T	c.(1174-1176)tgC>tgT	p.C392C	NELL2_ENST00000395487.2_Silent_p.C391C|NELL2_ENST00000437801.2_Silent_p.C442C|NELL2_ENST00000549027.1_Silent_p.C391C|NELL2_ENST00000333837.4_Silent_p.C415C|NELL2_ENST00000452445.2_Silent_p.C392C|NELL2_ENST00000551601.1_Silent_p.C391C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	392	VWFC 2.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TACAAACTTTGCAACAGCTGT	0.388													False	0	True	12:45105088	0	A	45105088	G	A	45105088	2	1	88	1	0	0	0	0	0	0	0	1	10402	1311	46	2		2	NELL2	12	45105088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191093	45105088	88746807	12757	20469											
NELL2	4753	broad.mit.edu	37	chr12	45173747	45173747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgagggcggtgactgcCtgagcggtaatgcagtctga	17	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45173747C>T	ENST00000429094.2	-	4	898	c.394G>A	c.(394-396)Ggc>Agc	p.G132S	NELL2_ENST00000395487.2_Missense_Mutation_p.G131S|NELL2_ENST00000437801.2_Missense_Mutation_p.G182S|NELL2_ENST00000549027.1_Missense_Mutation_p.G131S|NELL2_ENST00000333837.4_Missense_Mutation_p.G155S|NELL2_ENST00000452445.2_Missense_Mutation_p.G132S|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000551601.1_Missense_Mutation_p.G131S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	132	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CGGTGACTGCCTGAGCGGTAA	0.468													False	0	False	12:45173747	0	T	45173747	C	T	45173747	3	4	88	1	0	0	0	0	1	0	0	0	10402	681	24	2	2124	2	NELL2	12	45173747	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68659	45173747	88678148	12758	20470											
NELL2	4753	broad.mit.edu	37	chr12	45269691	45269691	+	Translation_Start_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgtctccctctttaaaAataaaaataaaaatcgaaga	3	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45269691A>C	ENST00000429094.2	-	0	466				NELL2_ENST00000437801.2_Intron|NELL2_ENST00000549027.1_Intron|NELL2_ENST00000333837.4_Intron|NELL2_ENST00000548826.1_De_novo_Start_OutOfFrame|NELL2_ENST00000452445.2_Intron|NELL2_ENST00000551601.1_Intron	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)						cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCTCtttaaaaataaaaataa	0.448													False	0	True	12:45269691	0	C	45269691	A	C	45269691	1	2	88	1	0	0	0	0	0	0	0	0	10402	29	1	4		4	NELL2	12	45269691	Translation_Start_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	95944	45269691	88582204	12759	20471											
DBX2	440097	broad.mit.edu	37	chr12	45429866	45429866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgccgagtagaatggCggggtgctcagaaggaaagg	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45429866C>T	ENST00000332700.6	-	2	606	c.435G>A	c.(433-435)ccG>ccA	p.P145P		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		agtagaatggcggggtgctca	0.473													False	0	True	12:45429866	0	T	45429866	C	T	45429866	2	4	88	1	0	0	0	0	0	0	0	1	4285	755	27	1		1	DBX2	12	45429866	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160175	45429866	88422029	12760	20472											
ARID2	196528	broad.mit.edu	37	chr12	46230589	46230589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcgaaagctgggcattaacGatattgaaggacagcgggta	13	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46230589G>A	ENST00000334344.6	+	8	1010	c.838G>A	c.(838-840)Gat>Aat	p.D280N	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.D131N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	280					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGGCATTAACGATATTGAAGG	0.393			"N, S, F"		hepatocellular carcinoma								False	0	False	12:46230589	0	A	46230589	G	A	46230589	3	1	88	1	0	0	0	0	1	0	0	0	917	1058	37	1	868	1	ARID2	12	46230589	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	800723	46230589	87621306	12761	20473											
ARID2	196528	broad.mit.edu	37	chr12	46233202	46233202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgaacacccaagttccaGtcatcaaatgttatctgaaa	5	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46233202G>A	ENST00000334344.6	+	11	1593	c.1421G>A	c.(1420-1422)aGt>aAt	p.S474N	ARID2_ENST00000444670.1_Missense_Mutation_p.S84N|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S325N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	474					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAAGTTCCAGTCATCAAATG	0.403			"N, S, F"		hepatocellular carcinoma								False	0	False	12:46233202	0	A	46233202	G	A	46233202	3	1	88	1	0	0	0	0	1	0	0	0	917	1029	36	2	1463	2	ARID2	12	46233202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2613	46233202	87618693	12762	20474											
ARID2	196528	broad.mit.edu	37	chr12	46254587	46254587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgttctttttcacagaacActcctatgccaccttcacca	3	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46254587A>G	ENST00000334344.6	+	16	4949	c.4777A>G	c.(4777-4779)Act>Gct	p.T1593A	ARID2_ENST00000444670.1_Missense_Mutation_p.T1203A|ARID2_ENST00000457135.1_Missense_Mutation_p.T201A|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.T1444A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1593					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCACAGAACACTCCTATGCC	0.393			"N, S, F"		hepatocellular carcinoma								False	0	False	12:46254587	0	G	46254587	A	G	46254587	3	3	88	1	0	0	0	0	1	0	0	0	917	159	6	4	4839	4	ARID2	12	46254587	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21385	46254587	87597308	12763	20475											
SLC38A1	81539	broad.mit.edu	37	chr12	46591706	46591706	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcatgaagccatacctacGactccaaaaatatccttcat	4	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46591706G>A	ENST00000398637.5	-	15	1954	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V	SLC38A1_ENST00000546893.1_Silent_p.V420V|SLC38A1_ENST00000552197.1_Silent_p.V420V|SLC38A1_ENST00000439706.1_Silent_p.V420V|SLC38A1_ENST00000549049.1_Silent_p.V420V	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	420					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCATACCTACGACTCCAAAAA	0.373													False	0	False	12:46591706	0	A	46591706	G	A	46591706	2	1	88	1	0	0	0	0	0	0	0	1	14681	1045	37	1		1	SLC38A1	12	46591706	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337119	46591706	87260189	12764	20476											
SLC38A2	54407	broad.mit.edu	37	chr12	46758265	46758265	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagctgttggctgtgttaaGgtggtgtttattgtttcgtt	14	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46758265G>T	ENST00000256689.5	-	10	1224	c.780C>A	c.(778-780)acC>acA	p.T260T	SLC38A2_ENST00000551374.1_Silent_p.T98T	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	260					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GCTGTGTTAAGGTGGTGTTTA	0.368													False	0	False	12:46758265	0	T	46758265	G	T	46758265	2	4	88	1	0	0	0	0	0	0	0	1	14684	987	35	3		3	SLC38A2	12	46758265	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166559	46758265	87093630	12765	20477											
SLC38A4	55089	broad.mit.edu	37	chr12	47168916	47168916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggatgtctaatgtataCactttgctgtaggcatgaag	13	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47168916C>T	ENST00000447411.1	-	13	1421	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V	SLC38A4_ENST00000266579.4_Silent_p.V405V	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	405					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTAATGTATACACTTTGCTGT	0.438													False	0	False	12:47168916	0	T	47168916	C	T	47168916	2	4	88	1	0	0	0	0	0	0	0	1	14686	465	17	2		2	SLC38A4	12	47168916	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410651	47168916	86682979	12766	20478											
SLC38A4	55089	broad.mit.edu	37	chr12	47173814	47173814	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaggtagcttgacattgCtaaaatggaaaatgtgacag	11	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47173814C>T	ENST00000447411.1	-	7	700		c.e7-1		SLC38A4_ENST00000266579.4_Splice_Site	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4						cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTTGACATTGCTAAAATGGAA	0.378													False	0	False	12:47173814	0	T	47173814	C	T	47173814	5	4	88	1	0	0	0	0	0	0	1	0	14686	811	28	2	1190	2	SLC38A4	12	47173814	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4898	47173814	86678081	12767	20479											
AMIGO2	347902	broad.mit.edu	37	chr12	47471719	47471719	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaatacactccagcatccTcaaaacgagggctttctata	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47471719T>C	ENST00000266581.4	-	2	1533	c.1067A>G	c.(1066-1068)gAg>gGg	p.E356G	AMIGO2_ENST00000550413.1_Missense_Mutation_p.E356G|AMIGO2_ENST00000321382.3_Missense_Mutation_p.E356G|AMIGO2_ENST00000429635.1_Missense_Mutation_p.E356G	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	356	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TCCAGCATCCTCAAAACGAGG	0.418													False	0	False	12:47471719	0	C	47471719	T	C	47471719	3	2	88	1	0	0	0	0	1	0	0	0	576	1551	54	4	505	4	AMIGO2	12	47471719	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	297905	47471719	86380176	12768	20480											
AMIGO2	347902	broad.mit.edu	37	chr12	47472178	47472178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcattggcatggaaggaattCggttataagaaacatctaaa	10	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47472178C>T	ENST00000266581.4	-	2	1074	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	AMIGO2_ENST00000550413.1_Missense_Mutation_p.R203Q|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R203Q|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R203Q	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	203					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.R203Q(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GGAAGGAATTCGGTTATAAGA	0.413													False	0	False	12:47472178	0	T	47472178	C	T	47472178	3	4	88	1	0	0	0	0	1	0	0	0	576	884	31	1	964	1	AMIGO2	12	47472178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	459	47472178	86379717	12769	20481											
RPAP3	79657	broad.mit.edu	37	chr12	48073291	48073291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacagttgatccaggatgCggtggattatcaatgggttt	12	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48073291C>T	ENST00000005386.3	-	12	1387	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	RPAP3_ENST00000432584.3_Silent_p.P265P|RPAP3_ENST00000380650.4_Intron	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	424							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					ATCCAGGATGCGGTGGATTAT	0.323													False	0	False	12:48073291	0	T	48073291	C	T	48073291	2	4	88	1	0	0	0	0	0	0	0	1	13622	755	27	1		1	RPAP3	12	48073291	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	601113	48073291	85778604	12770	20482											
RPAP3	79657	broad.mit.edu	37	chr12	48075569	48075569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccatctaataaaatggCttgtgtgcagtctttttcag	9	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48075569C>T	ENST00000005386.3	-	10	1139	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	RPAP3_ENST00000432584.3_Missense_Mutation_p.A183T|RPAP3_ENST00000380650.4_Missense_Mutation_p.A342T	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	342							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AATAAAATGGCTTGTGTGCAG	0.338													False	0	False	12:48075569	0	T	48075569	C	T	48075569	3	4	88	1	0	0	0	0	1	0	0	0	13622	797	28	2	1005	2	RPAP3	12	48075569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2278	48075569	85776326	12771	20483											
ENDOU	8909	broad.mit.edu	37	chr12	48110168	48110168	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcctgctcggccagctcCtgggcactgaagtgctcccc	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48110168C>A	ENST00000542202.1	-	0	415				ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000422538.3_Missense_Mutation_p.Q222H|ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H			P21128	ENDOU_HUMAN	endonuclease, polyU-specific						female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CGGCCAGCTCCTGGGCACTGA	0.562											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:48110168	0	A	48110168	C	A	48110168	1	1	88	1	0	0	0	0	0	0	0	0	5148	680	24	3		3	ENDOU	12	48110168	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34599	48110168	85741727	12772	20484											
RAPGEF3	10411	broad.mit.edu	37	chr12	48134179	48134179	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattcttctgctccttgaggCtgtgagcagaagacccagag	12	10	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48134179C>A	ENST00000405493.2	-	22	2315		c.e22-1		RAPGEF3_ENST00000549151.1_Splice_Site|RAPGEF3_ENST00000171000.4_Splice_Site|RAPGEF3_ENST00000449771.2_Splice_Site|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000389212.3_Splice_Site	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3						regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTCCTTGAGGCTGTGAGCAGA	0.582													False	0	False	12:48134179	0	A	48134179	C	A	48134179	5	1	88	1	0	0	0	0	0	0	1	0	13124	811	28	3	568	3	RAPGEF3	12	48134179	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24011	48134179	85717716	12773	20485											
RAPGEF3	10411	broad.mit.edu	37	chr12	48141337	48141337	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcatcacctgtggcatcGccgcctctctggccactgct	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48141337G>A	ENST00000405493.2	-	15	1629	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000395358.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000449771.2_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.R516*	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	474					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTGTGGCATCGCCGCCTCTCT	0.537													False	0	False	12:48141337	0	A	48141337	G	A	48141337	4	1	88	1	0	0	0	0	0	1	0	0	13124	1095	38	1	1281	1	RAPGEF3	12	48141337	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7158	48141337	85710558	12774	20486											
HDAC7	51564	broad.mit.edu	37	chr12	48185667	48185667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcacctcacactggctcCggagcccccgctcctgcagc	8	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48185667C>T	ENST00000080059.7	-	14	1798	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q	HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000427332.2_Missense_Mutation_p.R561Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R563Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R583Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R617Q	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	561	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		ACACTGGCTCCGGAGCCCCCG	0.706													False	0	False	12:48185667	0	T	48185667	C	T	48185667	3	4	88	1	0	0	0	0	1	0	0	0	7059	652	23	1	1228	1	HDAC7	12	48185667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44330	48185667	85666228	12775	20487											
HDAC7	51564	broad.mit.edu	37	chr12	48188548	48188548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggactgccatacctgagGgtgctgctggagaggagcgg	19	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48188548G>A	ENST00000080059.7	-	12	1452	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S	HDAC7_ENST00000427332.2_Missense_Mutation_p.P446S|HDAC7_ENST00000354334.3_Missense_Mutation_p.P448S|HDAC7_ENST00000552960.1_Missense_Mutation_p.P468S|HDAC7_ENST00000380610.4_Missense_Mutation_p.P502S	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	446	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CATACCTGAGGGTGCTGCTGG	0.657													False	0	True	12:48188548	0	A	48188548	G	A	48188548	3	1	88	1	0	0	0	0	1	0	0	0	7059	1232	43	2	1582	2	HDAC7	12	48188548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2881	48188548	85663347	12776	20488											
HDAC7	51564	broad.mit.edu	37	chr12	48188688	48188688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagggtatctgccgcagcCggggcttctcactcggcttg	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48188688C>T	ENST00000080059.7	-	12	1312	c.1313G>A	c.(1312-1314)cGg>cAg	p.R438Q	HDAC7_ENST00000427332.2_Missense_Mutation_p.R399Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R401Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R421Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R455Q	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	399	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTGCCGCAGCCGGGGCTTCTC	0.687													False	0	True	12:48188688	0	T	48188688	C	T	48188688	3	4	88	1	0	0	0	0	1	0	0	0	7059	652	23	1	1722	1	HDAC7	12	48188688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	48188688	85663207	12777	20489											
VDR	0	broad.mit.edu	37	chr12	48238712	48238712	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggggcgggtggcggcagcgGatgtacgtctgcagtgtgtt	21	7	1	0	rs75590999		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48238712G>A	ENST00000229022.3	-	11	1382	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	VDR_ENST00000549336.1_Silent_p.I367I|VDR_ENST00000395324.2_Silent_p.I367I|VDR_ENST00000550325.1_Silent_p.I417I|VDR_ENST00000535672.1_Silent_p.I335I	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	367	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGCGGCAGCGGATGTACGTCT	0.632													False	0	False	12:48238712	0	A	48238712	G	A	48238712	2	1	88	1	0	0	0	0	0	0	0	1	17233	1164	41	2		2	VDR	12	48238712	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50024	48238712	85613183	12778	20490											
TMEM106C	79022	broad.mit.edu	37	chr12	48359923	48359923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacggtggcagtgaccagcCtgtccagccagattcagtac	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48359923C>A	ENST00000429772.2	+	5	576	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	TMEM106C_ENST00000449758.2_Missense_Mutation_p.L155M|TMEM106C_ENST00000550552.1_Missense_Mutation_p.L155M|TMEM106C_ENST00000256686.6_Missense_Mutation_p.L155M|TMEM106C_ENST00000552561.1_Missense_Mutation_p.L155M|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552546.1_Missense_Mutation_p.L84M	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	155						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		AGTGACCAGCCTGTCCAGCCA	0.507													False	0	False	12:48359923	0	A	48359923	C	A	48359923	3	1	88	1	0	0	0	0	1	0	0	0	16104	680	24	3	477	3	TMEM106C	12	48359923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121211	48359923	85491972	12779	20491											
COL2A1	1280	broad.mit.edu	37	chr12	48371104	48371104	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaattcaggatacttacaGcttctcctctgtctccttgc	6	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48371104G>A	ENST00000380518.3	-	46	3436	c.3272C>T	c.(3271-3273)gCt>gTt	p.A1091V	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Splice_Site_p.A1022V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1091	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GATACTTACAGCTTCTCCTCT	0.632													False	0	False	12:48371104	0	A	48371104	G	A	48371104	5	1	88	1	0	0	0	0	0	0	1	0	3710	985	34	2	1227	2	COL2A1	12	48371104	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11181	48371104	85480791	12780	20492											
COL2A1	1280	broad.mit.edu	37	chr12	48391959	48391959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatttgcacttacatccttgAtgtctccaggttctcctttc	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48391959A>G	ENST00000380518.3	-	4	499	c.335T>C	c.(334-336)aTc>aCc	p.I112T	COL2A1_ENST00000337299.6_Missense_Mutation_p.I43T	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	112					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TACATCCTTGATGTCTCCAGG	0.483													False	0	False	12:48391959	0	G	48391959	A	G	48391959	3	3	88	1	0	0	0	0	1	0	0	0	3710	333	12	4	4332	4	COL2A1	12	48391959	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20855	48391959	85459936	12781	20493											
PFKM	5213	broad.mit.edu	37	chr12	48537573	48537573	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcaaaagatgaaaacaaCtgtgaaaaggggcttggtgt	14	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48537573C>A	ENST00000340802.6	+	21	2293	c.2069C>A	c.(2068-2070)aCt>aAt	p.T690N	PFKM_ENST00000551804.1_Missense_Mutation_p.T588N|PFKM_ENST00000395233.2_Missense_Mutation_p.T588N|PFKM_ENST00000312352.7_Missense_Mutation_p.T619N|PFKM_ENST00000359794.5_Missense_Mutation_p.T619N|PFKM_ENST00000547587.1_Missense_Mutation_p.T619N	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	619					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATGAAAACAACTGTGAAAAGG	0.383													False	0	False	12:48537573	0	A	48537573	C	A	48537573	3	1	88	1	0	0	0	0	1	0	0	0	11834	565	20	3	2147	3	PFKM	12	48537573	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145614	48537573	85314322	12782	20494											
PFKM	5213	broad.mit.edu	37	chr12	48538862	48538862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttgccactaagatgggcGccaaggctatgaactggatg	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48538862G>A	ENST00000340802.6	+	23	2478	c.2254G>A	c.(2254-2256)Gcc>Acc	p.A752T	PFKM_ENST00000551804.1_Missense_Mutation_p.A650T|PFKM_ENST00000395233.2_Missense_Mutation_p.A650T|PFKM_ENST00000312352.7_Missense_Mutation_p.A681T|PFKM_ENST00000359794.5_Missense_Mutation_p.A681T|PFKM_ENST00000547587.1_Missense_Mutation_p.A681T	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	681					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TAAGATGGGCGCCAAGGCTAT	0.483													False	0	False	12:48538862	0	A	48538862	G	A	48538862	3	1	88	1	0	0	0	0	1	0	0	0	11834	1087	38	1	2340	1	PFKM	12	48538862	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1289	48538862	85313033	12783	20495											
C12orf68	387856	broad.mit.edu	37	chr12	48577906	48577906	+	Translation_Start_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacccgcttctgccactcaAtggaggacggtctgctggag	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48577906A>G	ENST00000316554.3	+	1	541	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN	chromosome 12 open reading frame 68	1						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CTGCCACTCAATGGAGGACGG	0.721													False	0	False	12:48577906	0	G	48577906	A	G	48577906	1	3	88	1	0	0	0	0	0	0	0	0	1719	101	4	4		4	C12orf68	12	48577906	Translation_Start_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39044	48577906	85273989	12784	20496											
H1FNT	341567	broad.mit.edu	37	chr12	48723547	48723547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggagctcccggaggcgccGccagccccttcgcaaggcgg	15	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48723547G>A	ENST00000335017.1	+	1	785	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	158	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CGGAGGCGCCGCCAGCCCCTT	0.716													False	0	False	12:48723547	0	A	48723547	G	A	48723547	3	1	88	1	0	0	0	0	1	0	0	0	6968	1087	38	1	475	1	H1FNT	12	48723547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145641	48723547	85128348	12785	20497											
ZNF641	121274	broad.mit.edu	37	chr12	48736841	48736841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctgtccaggtgatgttttCggccaaagctcttctcacag	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48736841C>T	ENST00000544117.2	-	6	1940	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	ZNF641_ENST00000301042.3_Missense_Mutation_p.R411Q|ZNF641_ENST00000448928.3_Missense_Mutation_p.R388Q|ZNF641_ENST00000547026.1_Missense_Mutation_p.R397Q			Q96N77	ZN641_HUMAN	zinc finger protein 641	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GTGATGTTTTCGGCCAAAGCT	0.562													False	0	True	12:48736841	0	T	48736841	C	T	48736841	3	4	88	1	0	0	0	0	1	0	0	0	18140	884	31	1	88	1	ZNF641	12	48736841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13294	48736841	85115054	12786	20498											
ZNF641	121274	broad.mit.edu	37	chr12	48739206	48739206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagaggggtccaggctccGccactcctcctgagagaagc	13	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48739206G>A	ENST00000544117.2	-	4	1078	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	ZNF641_ENST00000301042.3_Missense_Mutation_p.R124W|ZNF641_ENST00000448928.3_Intron|ZNF641_ENST00000547026.1_Missense_Mutation_p.R110W			Q96N77	ZN641_HUMAN	zinc finger protein 641	124	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TCCAGGCTCCGCCACTCCTCC	0.473													False	0	False	12:48739206	0	A	48739206	G	A	48739206	3	1	88	1	0	0	0	0	1	0	0	0	18140	1086	38	1	958	1	ZNF641	12	48739206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2365	48739206	85112689	12787	20499											
ADCY6	112	broad.mit.edu	37	chr12	49165651	49165651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagagttcatcattgcggcGctcccgggccaggaagtggg	16	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49165651G>A	ENST00000307885.4	-	18	3587	c.2893C>T	c.(2893-2895)Cgc>Tgc	p.R965C	ADCY6_ENST00000357869.3_Missense_Mutation_p.R912C|ADCY6_ENST00000550422.1_Missense_Mutation_p.R912C	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	965					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCATTGCGGCGCTCCCGGGCC	0.552													False	0	False	12:49165651	0	A	49165651	G	A	49165651	3	1	88	1	0	0	0	0	1	0	0	0	298	1087	38	1	629	1	ADCY6	12	49165651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	426445	49165651	84686244	12788	20500											
ADCY6	112	broad.mit.edu	37	chr12	49170893	49170893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcactgcttacgagatgGcctcaatcatgtctaccccc	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49170893G>A	ENST00000307885.4	-	5	2064	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V	ADCY6_ENST00000357869.3_Missense_Mutation_p.A457V|ADCY6_ENST00000550422.1_Missense_Mutation_p.A457V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	457					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TTACGAGATGGCCTCAATCAT	0.557													False	0	False	12:49170893	0	A	49170893	G	A	49170893	3	1	88	1	0	0	0	0	1	0	0	0	298	1203	42	2	2204	2	ADCY6	12	49170893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5242	49170893	84681002	12789	20501											
RND1	27289	broad.mit.edu	37	chr12	49255902	49255902	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attatcgtagtagggagatcCtggtgtaggccagaaagagc	14	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49255902C>A	ENST00000309739.5	-	3	339		c.e3-1			NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1						actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TAGGGAGATCCTGGTGTAGGC	0.522													False	0	False	12:49255902	0	A	49255902	C	A	49255902	5	1	88	1	0	0	0	0	0	0	1	0	13498	695	24	3	502	3	RND1	12	49255902	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85009	49255902	84595993	12790	20502											
CCDC65	85478	broad.mit.edu	37	chr12	49298137	49298137	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatgcctaagaaagaaaaAatggccaagacgcccctgtc	8	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49298137A>C	ENST00000266984.5	+	1	245	c.18A>C	c.(16-18)aaA>aaC	p.K6N	CCDC65_ENST00000320516.4_Missense_Mutation_p.K6N|RP11-302B13.5_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	6										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGAAAGAAAAAATGGCCAAGA	0.537											OREG0021772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	12:49298137	0	C	49298137	A	C	49298137	3	2	88	1	0	0	0	0	1	0	0	0	2858	11	1	4	20	4	CCDC65	12	49298137	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	42235	49298137	84553758	12791	20503											
CCDC65	85478	broad.mit.edu	37	chr12	49312057	49312057	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tattttggggtcacttgctaGaatttagaagagaagcactt	10	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312057G>T	ENST00000266984.5	+	5	836		c.e5-1		CCDC65_ENST00000320516.4_Splice_Site|RP11-302B13.5_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65											breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCACTTGCTAGAATTTAGAAG	0.413													False	0	False	12:49312057	0	T	49312057	G	T	49312057	5	4	88	1	0	0	0	0	0	0	1	0	2858	956	33	3	627	3	CCDC65	12	49312057	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13920	49312057	84539838	12792	20504											
CCDC65	85478	broad.mit.edu	37	chr12	49312112	49312112	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggagaacagagtagaagatCtgtggagaaagttccaggat	14	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312112C>T	ENST00000266984.5	+	5	891	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	CCDC65_ENST00000320516.4_Silent_p.L222L|RP11-302B13.5_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	222										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGTAGAAGATCTGTGGAGAAA	0.433													False	0	False	12:49312112	0	T	49312112	C	T	49312112	2	4	88	1	0	0	0	0	0	0	0	1	2858	912	32	2		2	CCDC65	12	49312112	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	49312112	84539783	12793	20505											
CCDC65	85478	broad.mit.edu	37	chr12	49314776	49314776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccgaagaagaaaaagtgCtgcctttttattcatcagta	7	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49314776C>T	ENST00000266984.5	+	7	1317	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	CCDC65_ENST00000320516.4_Silent_p.L364L|RP11-302B13.5_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	364										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGAAAAAGTGCTGCCTTTTTA	0.403													False	0	False	12:49314776	0	T	49314776	C	T	49314776	2	4	88	1	0	0	0	0	0	0	0	1	2858	796	28	2		2	CCDC65	12	49314776	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2664	49314776	84537119	12794	20506											
WNT1	7471	broad.mit.edu	37	chr12	49373312	49373312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccaagagtctgcaactgGtactcgagcccagtctgcag	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49373312G>A	ENST00000293549.3	+	2	202	c.166G>A	c.(166-168)Gta>Ata	p.V56I		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	56					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TCTGCAACTGGTACTCGAGCC	0.582													False	0	False	12:49373312	0	A	49373312	G	A	49373312	3	1	88	1	0	0	0	0	1	0	0	0	17465	1261	44	2	172	2	WNT1	12	49373312	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58536	49373312	84478583	12795	20507											
DDN	23109	broad.mit.edu	37	chr12	49391399	49391399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggtctccggtcctgccccCtctccaagacccagagattc	9	17	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49391399C>T	ENST00000421952.2	-	2	1281	c.1260G>A	c.(1258-1260)gaG>gaA	p.E420E		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	420	Interaction with ACTN1.|Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GTCCTGCCCCCTCTCCAAGAC	0.672													False	0	True	12:49391399	0	T	49391399	C	T	49391399	2	4	88	1	0	0	0	0	0	0	0	1	4358	680	24	2		2	DDN	12	49391399	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18087	49391399	84460496	12796	20508											
DDN	23109	broad.mit.edu	37	chr12	49392084	49392084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccgccgacctccccagGgccccgcccacgccgaccct	11	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49392084G>A	ENST00000421952.2	-	2	596	c.575C>T	c.(574-576)cCc>cTc	p.P192L		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	192	Interaction with MAGI2.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ACCTCCCCAGGGCCCCGCCCA	0.781													False	0	True	12:49392084	0	A	49392084	G	A	49392084	3	1	88	1	0	0	0	0	1	0	0	0	4358	1232	43	2	1564	2	DDN	12	49392084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	685	49392084	84459811	12797	20509											
DHH	50846	broad.mit.edu	37	chr12	49485151	49485151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcacggcaatggccaaagCgttcacccgctccttacaac	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49485151C>T	ENST00000266991.2	-	2	631	c.325G>A	c.(325-327)Gct>Act	p.A109T	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	109					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						ATGGCCAAAGCGTTCACCCGC	0.587													False	0	False	12:49485151	0	T	49485151	C	T	49485151	3	4	88	1	0	0	0	0	1	0	0	0	4513	768	27	1	873	1	DHH	12	49485151	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93067	49485151	84366744	12798	20510											
DHH	50846	broad.mit.edu	37	chr12	49488219	49488219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggccaaccggcccccggCccggcccgcagctctgggct	14	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49488219C>T	ENST00000266991.2	-	1	383	c.77G>A	c.(76-78)gGc>gAc	p.G26D		NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	26					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						cggcccccggcccggcccgcA	0.682													False	0	True	12:49488219	0	T	49488219	C	T	49488219	3	4	88	1	0	0	0	0	1	0	0	0	4513	739	26	2	1125	2	DHH	12	49488219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3068	49488219	84363676	12799	20511											
TUBA1A	7846	broad.mit.edu	37	chr12	49579133	49579133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccacaaactggatggtaCgcttggtcttgatggtggca	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49579133C>T	ENST00000301071.7	-	4	1360	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	TUBA1A_ENST00000295766.5_Missense_Mutation_p.R339H|TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304H	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	339					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						CTGGATGGTACGCTTGGTCTT	0.552													False	0	False	12:49579133	0	T	49579133	C	T	49579133	3	4	88	1	0	0	0	0	1	0	0	0	16827	536	19	1	343	1	TUBA1A	12	49579133	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90914	49579133	84272762	12800	20512											
PRPH	5630	broad.mit.edu	37	chr12	49691311	49691311	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcaacgtcaagatggccctgGacatcgagatcgccacctac	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49691311G>T	ENST00000257860.4	+	6	2667	c.1168G>T	c.(1168-1170)Gac>Tac	p.D390Y	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	390	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GATGGCCCTGGACATCGAGAT	0.692											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:49691311	0	T	49691311	G	T	49691311	3	4	88	1	0	0	0	0	1	0	0	0	12652	1174	41	3	1190	3	PRPH	12	49691311	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112178	49691311	84160584	12801	20513											
TROAP	10024	broad.mit.edu	37	chr12	49718041	49718041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgtacctgtaatcacaGctactcaggaggctgaagca	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49718041G>A	ENST00000548311.1	+	4	465	c.365G>A	c.(364-366)aGc>aAc	p.S122N	TROAP_ENST00000551245.1_Intron|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000257909.3_Intron|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000380327.5_3'UTR|TROAP_ENST00000549275.1_Missense_Mutation_p.S64N|TROAP_ENST00000549534.1_3'UTR	NM_001278324.1	NP_001265253.1	Q12815	TROAP_HUMAN	trophinin associated protein	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						tgtaatcacagctactcagga	0.493													False	0	False	12:49718041	0	A	49718041	G	A	49718041	3	1	88	1	0	0	0	0	1	0	0	0	16658	986	34	2		2	TROAP	12	49718041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26730	49718041	84133854	12802	20514											
TROAP	10024	broad.mit.edu	37	chr12	49719388	49719388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcgccagcctagtctgGctaaaagagtactggttcga	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49719388G>A	ENST00000551245.1	+	4	553	c.442G>A	c.(442-444)Gct>Act	p.A148T	TROAP_ENST00000257909.3_Missense_Mutation_p.A148T			Q12815	TROAP_HUMAN	trophinin associated protein	148					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCTAGTCTGGCTAAAAGAGT	0.597													False	0	False	12:49719388	0	A	49719388	G	A	49719388	3	1	88	1	0	0	0	0	1	0	0	0	16658	1203	42	2	554	2	TROAP	12	49719388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1347	49719388	84132507	12803	20515											
DNAJC22	79962	broad.mit.edu	37	chr12	49743036	49743036	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggctgctgttggcaaccaGacctcagactttaagaacac	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49743036G>T	ENST00000549441.2	+	3	1585	c.381G>T	c.(379-381)caG>caT	p.Q127H	DNAJC22_ENST00000395069.3_Missense_Mutation_p.Q127H			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	127					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TTGGCAACCAGACCTCAGACT	0.532													False	0	False	12:49743036	0	T	49743036	G	T	49743036	3	4	88	1	0	0	0	0	1	0	0	0	4671	933	33	3	383	3	DNAJC22	12	49743036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23648	49743036	84108859	12804	20516											
SPATS2	65244	broad.mit.edu	37	chr12	49883338	49883338	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ataactgtgtggacaaaacaGtacaagcattcatggaaggt	10	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49883338G>T	ENST00000553127.1	+	6	709	c.196G>T	c.(196-198)Gta>Tta	p.V66L	SPATS2_ENST00000552918.1_Missense_Mutation_p.V66L|SPATS2_ENST00000321898.6_Missense_Mutation_p.V66L			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	66						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						GGACAAAACAGTACAAGCATT	0.323													False	0	False	12:49883338	0	T	49883338	G	T	49883338	3	4	88	1	0	0	0	0	1	0	0	0	15101	1029	36	3	206	3	SPATS2	12	49883338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140302	49883338	83968557	12805	20517											
SPATS2	65244	broad.mit.edu	37	chr12	49893906	49893906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgctgcacagtgtctcttGcacggtatcgagttgtagtt	12	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49893906G>A	ENST00000553127.1	+	10	1270	c.757G>A	c.(757-759)Gca>Aca	p.A253T	SPATS2_ENST00000552918.1_Missense_Mutation_p.A253T|SPATS2_ENST00000321898.6_Missense_Mutation_p.A253T|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	253						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGTGTCTCTTGCACGGTATCG	0.353													False	0	False	12:49893906	0	A	49893906	G	A	49893906	3	1	88	1	0	0	0	0	1	0	0	0	15101	1319	46	2	783	2	SPATS2	12	49893906	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10568	49893906	83957989	12806	20518											
KCNH3	23416	broad.mit.edu	37	chr12	49933258	49933258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctggacaccatcgctaCgcgcttcgacggcacgcgtg	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49933258C>T	ENST00000257981.6	+	1	319	c.59C>T	c.(58-60)aCg>aTg	p.T20M		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	20	PAS.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCATCGCTACGCGCTTCGAC	0.746													False	0	False	12:49933258	0	T	49933258	C	T	49933258	3	4	88	1	0	0	0	0	1	0	0	0	8083	536	19	1	61	1	KCNH3	12	49933258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39352	49933258	83918637	12807	20519											
KCNH3	23416	broad.mit.edu	37	chr12	49942692	49942692	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggctggctgcaggagCtggcccgccgactggagact	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49942692C>A	ENST00000257981.6	+	8	1464	c.1204C>A	c.(1204-1206)Ctg>Atg	p.L402M		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	402					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCTGCAGGAGCTGGCCCGCCG	0.692													False	0	False	12:49942692	0	A	49942692	C	A	49942692	3	1	88	1	0	0	0	0	1	0	0	0	8083	796	28	3	1234	3	KCNH3	12	49942692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9434	49942692	83909203	12808	20520											
KCNH3	23416	broad.mit.edu	37	chr12	49942829	49942829	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgctgggcggcccgtcGctgcgcagcgcctacatcac	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49942829G>A	ENST00000257981.6	+	8	1601	c.1341G>A	c.(1339-1341)tcG>tcA	p.S447S		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	447					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCGGCCCGTCGCTGCGCAGCG	0.672													False	0	False	12:49942829	0	A	49942829	G	A	49942829	2	1	88	1	0	0	0	0	0	0	0	1	8083	1074	38	1		1	KCNH3	12	49942829	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137	49942829	83909066	12809	20521											
KCNH3	23416	broad.mit.edu	37	chr12	49943286	49943286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcgcatgtacgcccgcCgctttctgtaccacagccgc	9	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49943286C>T	ENST00000257981.6	+	9	1791	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	511					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GTACGCCCGCCGCTTTCTGTA	0.652													False	0	True	12:49943286	0	T	49943286	C	T	49943286	3	4	88	1	0	0	0	0	1	0	0	0	8083	652	23	1	1565	1	KCNH3	12	49943286	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	457	49943286	83908609	12810	20522											
KCNH3	23416	broad.mit.edu	37	chr12	49948160	49948160	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagctgccccggcgggaGcaggtggtaaaggccaatgc	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49948160G>T	ENST00000257981.6	+	11	2219	c.1959G>T	c.(1957-1959)gaG>gaT	p.E653D		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	653					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCCGGCGGGAGCAGGTGGTAA	0.637													False	0	False	12:49948160	0	T	49948160	G	T	49948160	3	4	88	1	0	0	0	0	1	0	0	0	8083	962	34	3	2001	3	KCNH3	12	49948160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4874	49948160	83903735	12811	20523											
FAM186B	84070	broad.mit.edu	37	chr12	49993797	49993797	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctggctctctccgtgggctCtcctgctccttttctagctg	9	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49993797C>A	ENST00000544141.1	-	4	1955	c.1356G>T	c.(1354-1356)gaG>gaT	p.E452D	FAM186B_ENST00000257894.2_Missense_Mutation_p.E542D|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	542						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCGTGGGCTCTCCTGCTCCT	0.587													False	0	False	12:49993797	0	A	49993797	C	A	49993797	3	1	88	1	0	0	0	0	1	0	0	0	5548	912	32	3	1071	3	FAM186B	12	49993797	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45637	49993797	83858098	12812	20524											
FMNL3	91010	broad.mit.edu	37	chr12	50042916	50042916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgaagcagtgtcatcttcCggtcagtggacttggtatcc	11	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50042916C>T	ENST00000335154.5	-	21	2644	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	FMNL3_ENST00000293590.5_Missense_Mutation_p.R804Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.R804Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.R753Q	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	804	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGTCATCTTCCGGTCAGTGGA	0.552													False	0	False	12:50042916	0	T	50042916	C	T	50042916	3	4	88	1	0	0	0	0	1	0	0	0	5993	652	23	1	696	1	FMNL3	12	50042916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49119	50042916	83808979	12813	20525											
FMNL3	91010	broad.mit.edu	37	chr12	50055822	50055822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttcatcattcagaaattCccgcacccacctgcagataa	5	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50055822C>T	ENST00000335154.5	-	5	612	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	FMNL3_ENST00000293590.5_Missense_Mutation_p.E127K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E127K|FMNL3_ENST00000352151.5_Missense_Mutation_p.E127K	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	127	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTCAGAAATTCCCGCACCCAC	0.527													False	0	True	12:50055822	0	T	50055822	C	T	50055822	3	4	88	1	0	0	0	0	1	0	0	0	5993	864	30	2	2792	2	FMNL3	12	50055822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12906	50055822	83796073	12814	20526											
NCKAP5L	57701	broad.mit.edu	37	chr12	50188802	50188802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttccctccggagcggggaGcccccgccagccccctcctt	10	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50188802G>A	ENST00000335999.6	-	8	3042	c.2841C>T	c.(2839-2841)ggC>ggT	p.G947G		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	943										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGAGCGGGGAGCCCCCGCCAG	0.652													False	0	True	12:50188802	0	A	50188802	G	A	50188802	2	1	88	1	0	0	0	0	0	0	0	1	10292	958	34	2		2	NCKAP5L	12	50188802	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132980	50188802	83663093	12815	20527											
NCKAP5L	57701	broad.mit.edu	37	chr12	50195630	50195630	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggagcgcagatgcctaCctgagggagcgagcctgtcg	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50195630C>T	ENST00000335999.6	-	6	553		c.e6+1			NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like											central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CAGATGCCTACCTGAGGGAGC	0.592													False	0	False	12:50195630	0	T	50195630	C	T	50195630	5	4	88	1	0	0	0	0	0	0	1	0	10292	521	18	2	3684	2	NCKAP5L	12	50195630	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6828	50195630	83656265	12816	20528											
BCDIN3D	144233	broad.mit.edu	37	chr12	50232651	50232651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtgataaaagtcaaggCatcaggaaaaggacattctt	11	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50232651C>T	ENST00000333924.4	-	2	423	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	128	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						AAAGTCAAGGCATCAGGAAAA	0.468											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:50232651	0	T	50232651	C	T	50232651	3	4	88	1	0	0	0	0	1	0	0	0	1361	710	25	2	500	2	BCDIN3D	12	50232651	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37021	50232651	83619244	12817	20529											
FAIM2	23017	broad.mit.edu	37	chr12	50295144	50295144	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagagagagatagtcaccaGggaaagggagccttccaact	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50295144G>T	ENST00000550890.1	-	0	1018				FAIM2_ENST00000320634.3_Intron			Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2						anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						ATAGTCACCAGGGAAAGGGAG	0.547													False	0	True	12:50295144	0	T	50295144	G	T	50295144	1	4	88	1	0	0	0	0	0	0	0	0	5412	1015	35	3		3	FAIM2	12	50295144	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62493	50295144	83556751	12818	20530											
RACGAP1	29127	broad.mit.edu	37	chr12	50386039	50386039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctaccttgggttgacGcttgatgtcctgtaacattg	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50386039G>A	ENST00000434422.1	-	15	1868	c.1567C>T	c.(1567-1569)Cgt>Tgt	p.R523C	RACGAP1_ENST00000454520.2_Missense_Mutation_p.R523C|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R523C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R523C|RACGAP1_ENST00000427314.2_Missense_Mutation_p.R523C|RACGAP1_ENST00000548961.1_Missense_Mutation_p.R33C			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	523	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTGGGTTGACGCTTGATGTCC	0.468													False	0	False	12:50386039	0	A	50386039	G	A	50386039	3	1	88	1	0	0	0	0	1	0	0	0	13056	1087	38	1	347	1	RACGAP1	12	50386039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90895	50386039	83465856	12819	20531											
RACGAP1	29127	broad.mit.edu	37	chr12	50399109	50399109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagagctgatttttgctcctCgcttagttgaatgctgccag	10	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50399109C>T	ENST00000434422.1	-	5	656	c.355G>A	c.(355-357)Gag>Aag	p.E119K	RACGAP1_ENST00000454520.2_Missense_Mutation_p.E119K|RACGAP1_ENST00000547905.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000551016.1_Missense_Mutation_p.E119K|RACGAP1_ENST00000312377.5_Missense_Mutation_p.E119K|RACGAP1_ENST00000427314.2_Missense_Mutation_p.E119K			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	119	Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTTTGCTCCTCGCTTAGTTGA	0.448													False	0	False	12:50399109	0	T	50399109	C	T	50399109	3	4	88	1	0	0	0	0	1	0	0	0	13056	893	31	1	1599	1	RACGAP1	12	50399109	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13070	50399109	83452786	12820	20532											
SMARCD1	6602	broad.mit.edu	37	chr12	50483666	50483666	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacatcttcctctctgtaGtggcacaggaccgccactac	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50483666G>T	ENST00000394963.4	+	7	1169		c.e7-1		SMARCD1_ENST00000548573.1_Splice_Site|SMARCD1_ENST00000381513.4_Splice_Site	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1						chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCTCTCTGTAGTGGCACAGGA	0.537													False	0	False	12:50483666	0	T	50483666	G	T	50483666	5	4	88	1	0	0	0	0	0	0	1	0	14857	1043	36	3	797	3	SMARCD1	12	50483666	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84557	50483666	83368229	12821	20533											
GPD1	2819	broad.mit.edu	37	chr12	50499448	50499448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggccatctgaaggcaaacGccactggcatatctcttatt	9	11	2	1	rs1128867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50499448G>A	ENST00000301149.3	+	3	569	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	GPD1_ENST00000548814.1_Missense_Mutation_p.A90T|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	113			A -> P (in dbSNP:rs1128867).		glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GAAGGCAAACGCCACTGGCAT	0.562													False	0	False	12:50499448	0	A	50499448	G	A	50499448	3	1	88	1	0	0	0	0	1	0	0	0	6650	1087	38	1	347	1	GPD1	12	50499448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15782	50499448	83352447	12822	20534											
LIMA1	51474	broad.mit.edu	37	chr12	50575758	50575758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggttggccaagagacgCtccattggatagactgtctt	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50575758C>T	ENST00000547825.1	-	4	1566	c.297G>A	c.(295-297)gaG>gaA	p.E99E	LIMA1_ENST00000341247.4_Silent_p.E401E|LIMA1_ENST00000552823.1_Silent_p.E241E|LIMA1_ENST00000552909.1_Silent_p.E240E|LIMA1_ENST00000552491.1_Silent_p.E98E|LIMA1_ENST00000552783.1_Silent_p.E242E|LIMA1_ENST00000394943.3_Silent_p.E402E	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	401					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCAAGAGACGCTCCATTGGAT	0.483													False	0	False	12:50575758	0	T	50575758	C	T	50575758	2	4	88	1	0	0	0	0	0	0	0	1	8848	796	28	2		2	LIMA1	12	50575758	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76310	50575758	83276137	12823	20535											
LIMA1	51474	broad.mit.edu	37	chr12	50575804	50575804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccacgcaggtctctcttGcaggtgcctgaaacttctag	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50575804G>A	ENST00000547825.1	-	4	1520	c.251C>T	c.(250-252)gCa>gTa	p.A84V	LIMA1_ENST00000341247.4_Missense_Mutation_p.A386V|LIMA1_ENST00000552823.1_Missense_Mutation_p.A226V|LIMA1_ENST00000552909.1_Missense_Mutation_p.A225V|LIMA1_ENST00000552491.1_Missense_Mutation_p.A83V|LIMA1_ENST00000552783.1_Missense_Mutation_p.A227V|LIMA1_ENST00000394943.3_Missense_Mutation_p.A387V	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	386					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGTCTCTCTTGCAGGTGCCTG	0.468													False	0	False	12:50575804	0	A	50575804	G	A	50575804	3	1	88	1	0	0	0	0	1	0	0	0	8848	1319	46	2	1130	2	LIMA1	12	50575804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46	50575804	83276091	12824	20536											
LIMA1	51474	broad.mit.edu	37	chr12	50616055	50616055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgacctgagtctagatcTggggtggatttgttcttctt	13	6	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50616055T>C	ENST00000341247.4	-	4	528	c.379A>G	c.(379-381)Aga>Gga	p.R127G	LIMA1_ENST00000552823.1_5'UTR|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552783.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000394943.3_Missense_Mutation_p.R127G	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	127					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGTCTAGATCTGGGGTGGATT	0.507													False	0	True	12:50616055	0	C	50616055	T	C	50616055	3	2	88	1	0	0	0	0	1	0	0	0	8848	1588	55	4	1935	4	LIMA1	12	50616055	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40251	50616055	83235840	12825	20537											
LARP4	113251	broad.mit.edu	37	chr12	50848199	50848199	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgaccattccaaaaaaatCggtaagataaaaaccatagc	6	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50848199C>T	ENST00000398473.2	+	10	1232	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	LARP4_ENST00000347328.5_Splice_Site_p.R303C|LARP4_ENST00000518561.1_Splice_Site_p.R304C|LARP4_ENST00000518444.1_Splice_Site_p.R373C|LARP4_ENST00000293618.8_Splice_Site_p.R374W|LARP4_ENST00000522085.1_Splice_Site_p.R374C|LARP4_ENST00000429001.3_Splice_Site_p.R380C	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	374							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCAAAAAAATCGGTAAGATAA	0.348													False	0	False	12:50848199	0	T	50848199	C	T	50848199	5	4	88	1	0	0	0	0	0	0	1	0	8681	898	31	1	1158	1	LARP4	12	50848199	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232144	50848199	83003696	12826	20538											
LARP4	113251	broad.mit.edu	37	chr12	50869634	50869634	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agagcaatatgtgccacccaGatcaccaaagtaaaaaacaa	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50869634G>T	ENST00000398473.2	+	16	2274	c.2162G>T	c.(2161-2163)aGa>aTa	p.R721I	LARP4_ENST00000347328.5_Missense_Mutation_p.R650I|LARP4_ENST00000518444.1_Missense_Mutation_p.R720I|LARP4_ENST00000293618.8_Missense_Mutation_p.R650I|LARP4_ENST00000429001.3_Missense_Mutation_p.R727I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	721							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTGCCACCCAGATCACCAAAG	0.443													False	0	False	12:50869634	0	T	50869634	G	T	50869634	3	4	88	1	0	0	0	0	1	0	0	0	8681	942	33	3	2228	3	LARP4	12	50869634	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21435	50869634	82982261	12827	20539											
DIP2B	57609	broad.mit.edu	37	chr12	51068306	51068306	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaactacctcttcctcctcAtcatcttcctcaattcgccc	1	19	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51068306A>G	ENST00000301180.5	+	6	724	c.690A>G	c.(688-690)tcA>tcG	p.S230S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	230	Ser-rich.					nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTTCCTCCTCATCATCTTCCT	0.448													False	0	False	12:51068306	0	G	51068306	A	G	51068306	2	3	88	1	0	0	0	0	0	0	0	1	4558	204	8	4		4	DIP2B	12	51068306	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	198672	51068306	82783589	12828	20540											
DIP2B	57609	broad.mit.edu	37	chr12	51072569	51072569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcctgctcttgaatctGccctgcagcgctggggtacc	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51072569G>A	ENST00000301180.5	+	8	1058	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	342						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTTGAATCTGCCCTGCAGCG	0.552													False	0	True	12:51072569	0	A	51072569	G	A	51072569	3	1	88	1	0	0	0	0	1	0	0	0	4558	1319	46	2	1054	2	DIP2B	12	51072569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4263	51072569	82779326	12829	20541											
ATF1	466	broad.mit.edu	37	chr12	51203316	51203316	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaattctggagtttctgctgCtgtcacttctatgtctgttc	8	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51203316C>A	ENST00000262053.3	+	4	294	c.272C>A	c.(271-273)gCt>gAt	p.A91D	ATF1_ENST00000539132.1_Intron	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	91					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						GTTTCTGCTGCTGTCACTTCT	0.388			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "								False	0	True	12:51203316	0	A	51203316	C	A	51203316	3	1	88	1	0	0	0	0	1	0	0	0	1083	797	28	3	282	3	ATF1	12	51203316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130747	51203316	82648579	12830	20542											
TMPRSS12	283471	broad.mit.edu	37	chr12	51279109	51279109	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attctgagaggagttatgggGgaataattcctaacacttca	10	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51279109G>T	ENST00000551456.1	+	4	778	c.733G>T	c.(733-735)Gga>Tga	p.G245*	TMPRSS12_ENST00000398458.3_Nonsense_Mutation_p.G245*			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	245	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GAGTTATGGGGGAATAATTCC	0.343													False	0	True	12:51279109	0	T	51279109	G	T	51279109	4	4	88	1	0	0	0	0	0	1	0	0	16326	1233	43	3	747	3	TMPRSS12	12	51279109	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75793	51279109	82572786	12831	20543											
SLC11A2	4891	broad.mit.edu	37	chr12	51390647	51390647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgtggcatgatgacagCtcccacgatgcccacagcct	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51390647C>T	ENST00000394904.3	-	9	920	c.871G>A	c.(871-873)Gct>Act	p.A291T	SLC11A2_ENST00000545993.2_Missense_Mutation_p.A258T|SLC11A2_ENST00000546743.1_Missense_Mutation_p.A183T|SLC11A2_ENST00000547688.1_Missense_Mutation_p.A291T|SLC11A2_ENST00000262051.7_Missense_Mutation_p.A262T|SLC11A2_ENST00000262052.5_Missense_Mutation_p.A262T|SLC11A2_ENST00000547198.1_Missense_Mutation_p.A262T|SLC11A2_ENST00000541174.2_Missense_Mutation_p.A262T	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	262					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ATGATGACAGCTCCCACGATG	0.522													False	0	False	12:51390647	0	T	51390647	C	T	51390647	3	4	88	1	0	0	0	0	1	0	0	0	14462	797	28	2	1015	2	SLC11A2	12	51390647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111538	51390647	82461248	12832	20544											
SLC11A2	4891	broad.mit.edu	37	chr12	51390675	51390675	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgcccacagcctgttcaatCtgtggagtgcgacagcctga	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51390675C>T	ENST00000394904.3	-	9	892	c.843G>A	c.(841-843)caG>caA	p.Q281Q	SLC11A2_ENST00000545993.2_Silent_p.Q248Q|SLC11A2_ENST00000546743.1_Silent_p.Q173Q|SLC11A2_ENST00000547688.1_Silent_p.Q281Q|SLC11A2_ENST00000262051.7_Silent_p.Q252Q|SLC11A2_ENST00000262052.5_Silent_p.Q252Q|SLC11A2_ENST00000547198.1_Silent_p.Q252Q|SLC11A2_ENST00000541174.2_Silent_p.Q252Q	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	252					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CCTGTTCAATCTGTGGAGTGC	0.498													False	0	False	12:51390675	0	T	51390675	C	T	51390675	2	4	88	1	0	0	0	0	0	0	0	1	14462	912	32	2		2	SLC11A2	12	51390675	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	51390675	82461220	12833	20545											
TFCP2	7024	broad.mit.edu	37	chr12	51493563	51493563	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaaccttggacgcaccatcCtaaggggaggaaaaaggcta	11	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51493563C>A	ENST00000307660.4	-	11	1719		c.e11-1		TFCP2_ENST00000549867.1_Splice_Site|TFCP2_ENST00000548115.1_Splice_Site|TFCP2_ENST00000257915.5_Splice_Site	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2						regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ACGCACCATCCTAAGGGGAGG	0.413													False	0	False	12:51493563	0	A	51493563	C	A	51493563	5	1	88	1	0	0	0	0	0	0	1	0	15877	695	24	3	373	3	TFCP2	12	51493563	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102888	51493563	82358332	12834	20546											
TFCP2	7024	broad.mit.edu	37	chr12	51502943	51502943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctggccgagtgtaagtgCtcagtatattccccgttttc	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51502943C>A	ENST00000257915.5	-	6	1136	c.678G>T	c.(676-678)gaG>gaT	p.E226D	TFCP2_ENST00000307660.4_Intron|TFCP2_ENST00000549867.1_Missense_Mutation_p.E226D|TFCP2_ENST00000548115.1_Intron	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	226	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AGTGTAAGTGCTCAGTATATT	0.433													False	0	False	12:51502943	0	A	51502943	C	A	51502943	3	1	88	1	0	0	0	0	1	0	0	0	15877	796	28	3	870	3	TFCP2	12	51502943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9380	51502943	82348952	12835	20547											
TFCP2	7024	broad.mit.edu	37	chr12	51566352	51566352	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccacccccaagcccgaccaGcactgctctgtgcacaacta	7	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51566352G>T	ENST00000307660.4	-	0	574				TFCP2_ENST00000549867.1_Intron|TFCP2_ENST00000548115.1_De_novo_Start_InFrame|TFCP2_ENST00000257915.5_De_novo_Start_InFrame	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2						regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AGCCCGACCAGCACTGCTCTG	0.577													False	0	False	12:51566352	0	T	51566352	G	T	51566352	1	4	88	1	0	0	0	0	0	0	0	0	15877	986	34	3		3	TFCP2	12	51566352	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63409	51566352	82285543	12836	20548											
POU6F1	5463	broad.mit.edu	37	chr12	51585522	51585522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctaagttgatcccatcCtcatccagacttggagtatg	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51585522C>T	ENST00000389243.4	-	10	1356	c.417G>A	c.(415-417)gaG>gaA	p.E139E	POU6F1_ENST00000550824.1_Silent_p.E139E|POU6F1_ENST00000333640.10_Silent_p.E139E			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	139	Gln/Pro-rich.|POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TGATCCCATCCTCATCCAGAC	0.542													False	0	False	12:51585522	0	T	51585522	C	T	51585522	2	4	88	1	0	0	0	0	0	0	0	1	12353	680	24	2		2	POU6F1	12	51585522	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19170	51585522	82266373	12837	20549											
POU6F1	5463	broad.mit.edu	37	chr12	51589917	51589917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggtgctggggccgccaCactagctgagttcactaccc	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51589917C>T	ENST00000389243.4	-	8	1024	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	POU6F1_ENST00000550824.1_Missense_Mutation_p.V29M|POU6F1_ENST00000333640.10_Missense_Mutation_p.V29M			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	29	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GGGGCCGCCACACTAGCTGAG	0.617													False	0	False	12:51589917	0	T	51589917	C	T	51589917	3	4	88	1	0	0	0	0	1	0	0	0	12353	478	17	2	836	2	POU6F1	12	51589917	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4395	51589917	82261978	12838	20550											
CELA1	1990	broad.mit.edu	37	chr12	51736376	51736376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccggcagccacgttatcGctgttccagtatggatgcac	10	13	0	0	rs141068541	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51736376G>A	ENST00000293636.1	-	4	349	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	103	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CCACGTTATCGCTGTTCCAGT	0.577													False	0	False	12:51736376	0	A	51736376	G	A	51736376	2	1	88	1	0	0	0	0	0	0	0	1	3233	1078	38	1		1	CELA1	12	51736376	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146459	51736376	82115519	12839	20551											
GALNT6	11226	broad.mit.edu	37	chr12	51752996	51752996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccagacctctgccaggcGcacttgattgcgagcaatga	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51752996G>A	ENST00000543196.2	-	7	1493	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	GALNT6_ENST00000356317.3_Missense_Mutation_p.R430C			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	430					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTGCCAGGCGCACTTGATTG	0.542													False	0	False	12:51752996	0	A	51752996	G	A	51752996	3	1	88	1	0	0	0	0	1	0	0	0	6260	1087	38	1	600	1	GALNT6	12	51752996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16620	51752996	82098899	12840	20552											
SCN8A	6334	broad.mit.edu	37	chr12	52080881	52080881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttctttgacaggtacacGttcacagggatttatacatt	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52080881G>A	ENST00000354534.6	+	5	670	c.492G>A	c.(490-492)acG>acA	p.T164T	SCN8A_ENST00000550891.1_Silent_p.T164T|SCN8A_ENST00000545061.1_Silent_p.T164T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACAGGTACACGTTCACAGGGA	0.378													False	0	False	12:52080881	0	A	52080881	G	A	52080881	2	1	88	1	0	0	0	0	0	0	0	1	14005	1132	40	1		1	SCN8A	12	52080881	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	327885	52080881	81771014	12841	20553											
SCN8A	6334	broad.mit.edu	37	chr12	52115445	52115445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctccgagaatgagttcgCggatgacgagcacagcacgg	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52115445C>T	ENST00000354534.6	+	12	1929	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	SCN8A_ENST00000550891.1_Missense_Mutation_p.A584V|SCN8A_ENST00000545061.1_Missense_Mutation_p.A584V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AATGAGTTCGCGGATGACGAG	0.672													False	0	False	12:52115445	0	T	52115445	C	T	52115445	3	4	88	1	0	0	0	0	1	0	0	0	14005	768	27	1	1793	1	SCN8A	12	52115445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34564	52115445	81736450	12842	20554											
ACVRL1	94	broad.mit.edu	37	chr12	52309191	52309191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcacgtggagatcttcGgtacacagggcaaaccagcc	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52309191G>A	ENST00000550683.1	+	6	1098	c.997G>A	c.(997-999)Ggt>Agt	p.G333S	ACVRL1_ENST00000388922.4_Missense_Mutation_p.G319S|ACVRL1_ENST00000419526.2_Missense_Mutation_p.G145S	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	319	Protein kinase.		S -> I (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum).		blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGAGATCTTCGGTACACAGGG	0.617													False	0	False	12:52309191	0	A	52309191	G	A	52309191	3	1	88	1	0	0	0	0	1	0	0	0	225	1116	39	1	977	1	ACVRL1	12	52309191	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193746	52309191	81542704	12843	20555											
ACVR1B	91	broad.mit.edu	37	chr12	52369215	52369215	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcccttctactgcctgagCtcggaggacctgcgcaacac	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52369215C>A	ENST00000257963.4	+	2	335	c.258C>A	c.(256-258)agC>agA	p.S86R	ACVR1B_ENST00000542485.1_Missense_Mutation_p.S34R|ACVR1B_ENST00000415850.2_Missense_Mutation_p.S86R|ACVR1B_ENST00000426655.2_Missense_Mutation_p.S86R|ACVR1B_ENST00000541224.1_Missense_Mutation_p.S86R	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	86					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ACTGCCTGAGCTCGGAGGACC	0.577													False	0	False	12:52369215	0	A	52369215	C	A	52369215	3	1	88	1	0	0	0	0	1	0	0	0	221	796	28	3	264	3	ACVR1B	12	52369215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60024	52369215	81482680	12844	20556											
ACVR1B	91	broad.mit.edu	37	chr12	52380666	52380666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttgactcctttaaatgtGctgatatttatgccctcggg	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52380666G>A	ENST00000257963.4	+	7	1278	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T	ACVR1B_ENST00000542485.1_Missense_Mutation_p.A349T|ACVR1B_ENST00000415850.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000426655.2_Missense_Mutation_p.A401T|ACVR1B_ENST00000541224.1_Missense_Mutation_p.A442T|ACVR1B_ENST00000563121.1_Intron	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	401	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTTTAAATGTGCTGATATTTA	0.413													False	0	False	12:52380666	0	A	52380666	G	A	52380666	3	1	88	1	0	0	0	0	1	0	0	0	221	1319	46	2	1354	2	ACVR1B	12	52380666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11451	52380666	81471229	12845	20557											
GRASP	160622	broad.mit.edu	37	chr12	52407526	52407526	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaggcatccggcatcgagaGattgtggacatcattaaggc	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52407526G>T	ENST00000293662.4	+	5	590	c.510G>T	c.(508-510)gaG>gaT	p.E170D	GRASP_ENST00000552049.1_Missense_Mutation_p.E27D|GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000380039.2_Missense_Mutation_p.E27D	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	170	PDZ.					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGCATCGAGAGATTGTGGACA	0.552													False	0	True	12:52407526	0	T	52407526	G	T	52407526	3	4	88	1	0	0	0	0	1	0	0	0	6802	933	33	3	528	3	GRASP	12	52407526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26860	52407526	81444369	12846	20558											
NR4A1	0	broad.mit.edu	37	chr12	52449883	52449883	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgtggacaagaggcggCgaaaccgctgccagttctgc	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52449883C>T	ENST00000545748.1	+	4	2103	c.1108C>T	c.(1108-1110)Cga>Tga	p.R370*	NR4A1_ENST00000360284.3_Nonsense_Mutation_p.R329*|NR4A1_ENST00000394825.1_Nonsense_Mutation_p.R316*|NR4A1_ENST00000243050.1_Nonsense_Mutation_p.R316*|NR4A1_ENST00000550082.1_Nonsense_Mutation_p.R329*|NR4A1_ENST00000394824.2_Nonsense_Mutation_p.R316*			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	316				R -> L (in Ref. 2; AAA36763).	nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CAAGAGGCGGCGAAACCGCTG	0.632													False	0	False	12:52449883	0	T	52449883	C	T	52449883	4	4	88	1	0	0	0	0	0	1	0	0	10700	760	27	1	952	1	NR4A1	12	52449883	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42357	52449883	81402012	12847	20559											
NR4A1	0	broad.mit.edu	37	chr12	52450304	52450304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacagacagcctgaaggggCggcggggccggctaccttca	16	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52450304C>T	ENST00000545748.1	+	5	2190	c.1195C>T	c.(1195-1197)Cgg>Tgg	p.R399W	NR4A1_ENST00000360284.3_Missense_Mutation_p.R358W|NR4A1_ENST00000394825.1_Missense_Mutation_p.R345W|NR4A1_ENST00000243050.1_Missense_Mutation_p.R345W|NR4A1_ENST00000550082.1_Missense_Mutation_p.R358W|NR4A1_ENST00000394824.2_Missense_Mutation_p.R345W			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	345					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCTGAAGGGGCGGCGGGGCCG	0.627													False	0	True	12:52450304	0	T	52450304	C	T	52450304	3	4	88	1	0	0	0	0	1	0	0	0	10700	759	27	1	1043	1	NR4A1	12	52450304	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	421	52450304	81401591	12848	20560											
NR4A1	0	broad.mit.edu	37	chr12	52450400	52450400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcacacctggactcagggCccagcactgccaaactggac	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52450400C>T	ENST00000545748.1	+	5	2286	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S	NR4A1_ENST00000360284.3_Missense_Mutation_p.P390S|NR4A1_ENST00000394825.1_Missense_Mutation_p.P377S|NR4A1_ENST00000243050.1_Missense_Mutation_p.P377S|NR4A1_ENST00000550082.1_Missense_Mutation_p.P390S|NR4A1_ENST00000394824.2_Missense_Mutation_p.P377S			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	377	Ligand-binding (Potential).				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGACTCAGGGCCCAGCACTGC	0.627													False	0	True	12:52450400	0	T	52450400	C	T	52450400	3	4	88	1	0	0	0	0	1	0	0	0	10700	739	26	2	1139	2	NR4A1	12	52450400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96	52450400	81401495	12849	20561											
C12orf44	60673	broad.mit.edu	37	chr12	52470606	52470606	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggcgatgggctggggCagatgtccttggagttctac	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52470606C>T	ENST00000336854.4	+	4	767	c.289C>T	c.(289-291)Cag>Tag	p.Q97*		NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	97					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		TGGGCTGGGGCAGATGTCCTT	0.572													False	0	True	12:52470606	0	T	52470606	C	T	52470606	4	4	88	1	0	0	0	0	0	1	0	0	1699	711	25	2	295	2	C12orf44	12	52470606	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20206	52470606	81381289	12850	20562											
KRT7	3855	broad.mit.edu	37	chr12	52627084	52627084	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccggcccagccaccatgTccatccacttcagctccccg	6	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52627084T>C	ENST00000331817.5	+	1	187	c.4T>C	c.(4-6)Tcc>Ccc	p.S2P		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	2	Head.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		AGCCACCATGTCCATCCACTT	0.731													False	0	True	12:52627084	0	C	52627084	T	C	52627084	3	2	88	1	0	0	0	0	1	0	0	0	8533	1667	58	4	6	4	KRT7	12	52627084	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156478	52627084	81224811	12851	20563											
KRT81	3887	broad.mit.edu	37	chr12	52685244	52685244	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaaatcctgatccgcaGgtcatgatcctcctggacgt	8	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52685244G>T	ENST00000327741.5	-	1	74	c.6C>A	c.(4-6)acC>acA	p.T2T	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	2	Head.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGATCCGCAGGTCATGATCC	0.647													False	0	False	12:52685244	0	T	52685244	G	T	52685244	2	4	88	1	0	0	0	0	0	0	0	1	8545	987	35	3		3	KRT81	12	52685244	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58160	52685244	81166651	12852	20564											
KRT86	3892	broad.mit.edu	37	chr12	52702259	52702259	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctactgcccctgttgtctccAccagagtcagtagcgtcccc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52702259A>G	ENST00000293525.5	+	9	1403	c.1351A>G	c.(1351-1353)Acc>Gcc	p.T451A	KRT86_ENST00000544024.1_Missense_Mutation_p.T451A|KRT86_ENST00000423955.2_Missense_Mutation_p.T451A	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	451	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTGTCTCCACCAGAGTCAG	0.667													False	0	False	12:52702259	0	G	52702259	A	G	52702259	3	3	88	1	0	0	0	0	1	0	0	0	8550	159	6	4	1385	4	KRT86	12	52702259	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17015	52702259	81149636	12853	20565											
KRT83	3889	broad.mit.edu	37	chr12	52710773	52710773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagcttgacaaccacggagGtgtctgagatgtgggattgg	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52710773G>T	ENST00000293670.3	-	5	847	c.785C>A	c.(784-786)aCc>aAc	p.T262N		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	262	Linker 12.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACCACGGAGGTGTCTGAGAT	0.547													False	0	False	12:52710773	0	T	52710773	G	T	52710773	3	4	88	1	0	0	0	0	1	0	0	0	8547	1261	44	3	716	3	KRT83	12	52710773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8514	52710773	81141122	12854	20566											
KRT83	3889	broad.mit.edu	37	chr12	52715095	52715095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagggcggaacccacagcCtatggagttgaagccacagg	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52715095C>T	ENST00000293670.3	-	1	87	c.25G>A	c.(25-27)Ggc>Agc	p.G9S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	9	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACCCACAGCCTATGGAGTTG	0.627													False	0	False	12:52715095	0	T	52715095	C	T	52715095	3	4	88	1	0	0	0	0	1	0	0	0	8547	681	24	2	1492	2	KRT83	12	52715095	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4322	52715095	81136800	12855	20567											
KRT85	3891	broad.mit.edu	37	chr12	52758891	52758891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggttgctctcgcagcagcGctggttctggtagaactgcc	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52758891G>A	ENST00000257901.3	-	2	559	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	162	Linker 1.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity	p.R162S(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGCAGCAGCGCTGGTTCTGG	0.622													False	0	False	12:52758891	0	A	52758891	G	A	52758891	3	1	88	1	0	0	0	0	1	0	0	0	8549	1087	38	1	1071	1	KRT85	12	52758891	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43796	52758891	81093004	12856	20568											
KRT82	3888	broad.mit.edu	37	chr12	52793859	52793859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgatgatgccgtccacGtccagctcccggctgttgtc	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52793859G>A	ENST00000257974.2	-	5	929	c.852C>T	c.(850-852)gaC>gaT	p.D284D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	284	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TGCCGTCCACGTCCAGCTCCC	0.612													False	0	True	12:52793859	0	A	52793859	G	A	52793859	2	1	88	1	0	0	0	0	0	0	0	1	8546	1136	40	1		1	KRT82	12	52793859	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34968	52793859	81058036	12857	20569											
KRT82	3888	broad.mit.edu	37	chr12	52799988	52799988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagtgggtgaccatccggGgcatgacagccgagtatgag	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52799988G>A	ENST00000257974.2	-	1	151	c.74C>T	c.(73-75)cCc>cTc	p.P25L		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	25	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GACCATCCGGGGCATGACAGC	0.632													False	0	True	12:52799988	0	A	52799988	G	A	52799988	3	1	88	1	0	0	0	0	1	0	0	0	8546	1232	43	2	1503	2	KRT82	12	52799988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6129	52799988	81051907	12858	20570											
KRT6C	286887	broad.mit.edu	37	chr12	52863465	52863465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttacctacctgcactcctcGccctccagcagcttgcggta	8	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52863465G>A	ENST00000252250.6	-	7	1460	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	471	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGCACTCCTCGCCCTCCAGCA	0.582													False	0	True	12:52863465	0	A	52863465	G	A	52863465	2	1	88	1	0	0	0	0	0	0	0	1	8532	1074	38	1		1	KRT6C	12	52863465	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63477	52863465	80988430	12859	20571											
KRT6C	286887	broad.mit.edu	37	chr12	52864412	52864412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgacctgcagctcctcGtactgcagcccagaggtgga	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52864412G>A	ENST00000252250.6	-	6	1127	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	360	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCAGCTCCTCGTACTGCAGCC	0.542													False	0	False	12:52864412	0	A	52864412	G	A	52864412	2	1	88	1	0	0	0	0	0	0	0	1	8532	1140	40	1		1	KRT6C	12	52864412	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	947	52864412	80987483	12860	20572											
KRT6A	3853	broad.mit.edu	37	chr12	52886914	52886914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggagcctggctgagttgGcactgaaaccccggcggctg	16	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52886914G>A	ENST00000330722.6	-	1	127	c.59C>T	c.(58-60)gCc>gTc	p.A20V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	20	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCTGAGTTGGCACTGAAACC	0.647													False	0	False	12:52886914	0	A	52886914	G	A	52886914	3	1	88	1	0	0	0	0	1	0	0	0	8530	1203	42	2	1671	2	KRT6A	12	52886914	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22502	52886914	80964981	12861	20573											
KRT5	3852	broad.mit.edu	37	chr12	52908948	52908948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctccaccgaggccgccGccaagacctccaccgaggcc	10	20	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52908948G>A	ENST00000252242.4	-	9	1941	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	517	Tail.		G -> D (in K-EBS).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		cgaggccgccgccaagacctc	0.632													False	0	True	12:52908948	0	A	52908948	G	A	52908948	2	1	88	1	0	0	0	0	0	0	0	1	8529	1074	38	1		1	KRT5	12	52908948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22034	52908948	80942947	12862	20574											
KRT5	3852	broad.mit.edu	37	chr12	52913904	52913904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaggctccggctgccataGccacccactccacaagcacc	8	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52913904G>A	ENST00000252242.4	-	1	567	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	59	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCTGCCATAGCCACCCACTC	0.647													False	0	True	12:52913904	0	A	52913904	G	A	52913904	2	1	88	1	0	0	0	0	0	0	0	1	8529	958	34	2		2	KRT5	12	52913904	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4956	52913904	80937991	12863	20575											
KRT74	121391	broad.mit.edu	37	chr12	52964522	52964522	+	Missense_Mutation	SNP	C	C	A													tcctcataatgcatgcggacCtcagcgatgatgctgtcaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52964522C>A	ENST00000549343.1	-	5	977	c.939G>T	c.(937-939)gaG>gaT	p.E313D	KRT74_ENST00000305620.2_Missense_Mutation_p.E313D			Q7RTS7	K2C74_HUMAN	keratin 74	313	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCATGCGGACCTCAGCGATGA	0.587													False	0	False	12:52964522	0	A	52964522	C	A	52964522	3	1	88	1	0	0	0	0	1	0	0	0	8537	680	24	3	670	3	KRT74	12	52964522	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50618	52964522	80887373	12864	20576	230	2									
KRT74	121391	broad.mit.edu	37	chr12	52964527	52964527	+	Missense_Mutation	SNP	C	C	T													ataatgcatgcggacctcagCgatgatgctgtcaaggtcca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52964527C>T	ENST00000549343.1	-	5	972	c.934G>A	c.(934-936)Gct>Act	p.A312T	KRT74_ENST00000305620.2_Missense_Mutation_p.A312T			Q7RTS7	K2C74_HUMAN	keratin 74	312	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CGGACCTCAGCGATGATGCTG	0.582													False	0	False	12:52964527	0	T	52964527	C	T	52964527	3	4	88	1	0	0	0	0	1	0	0	0	8537	768	27	1	675	1	KRT74	12	52964527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	52964527	80887368	12865	20577	230	2									
KRT73	319101	broad.mit.edu	37	chr12	53010165	53010165	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctccaggaaccgcacCtggaacccatgccacacata	8	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53010165C>T	ENST00000305748.3	-	2	482		c.e2-1			NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73							keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAACCGCACCTGGAACCCAT	0.507													False	0	False	12:53010165	0	T	53010165	C	T	53010165	5	4	88	1	0	0	0	0	0	0	1	0	8536	695	24	2	1207	2	KRT73	12	53010165	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45638	53010165	80841730	12866	20578											
KRT2	3849	broad.mit.edu	37	chr12	53040535	53040535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctcacctgcactcctcGccctccagcagtttgcggta	8	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53040535G>A	ENST00000309680.3	-	7	1479	c.1458C>T	c.(1456-1458)ggC>ggT	p.G486G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	486	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGCACTCCTCGCCCTCCAGCA	0.622													False	0	True	12:53040535	0	A	53040535	G	A	53040535	2	1	88	1	0	0	0	0	0	0	0	1	8507	1074	38	1		1	KRT2	12	53040535	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30370	53040535	80811360	12867	20579											
KRT2	3849	broad.mit.edu	37	chr12	53042884	53042884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgtaggcattgtccacGtcctgcaagaaaggttgagg	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53042884G>A	ENST00000309680.3	-	4	885	c.864C>T	c.(862-864)gaC>gaT	p.D288D		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	288	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CATTGTCCACGTCCTGCAAGA	0.517													False	0	False	12:53042884	0	A	53042884	G	A	53042884	2	1	88	1	0	0	0	0	0	0	0	1	8507	1136	40	1		1	KRT2	12	53042884	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2349	53042884	80809011	12868	20580											
KRT2	3849	broad.mit.edu	37	chr12	53043735	53043735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcattctcagcagctgtgCgcttattgatttcatcctca	6	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53043735C>T	ENST00000309680.3	-	3	845	c.824G>A	c.(823-825)cGc>cAc	p.R275H		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	275	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGCAGCTGTGCGCTTATTGAT	0.433													False	0	False	12:53043735	0	T	53043735	C	T	53043735	3	4	88	1	0	0	0	0	1	0	0	0	8507	768	27	1	1123	1	KRT2	12	53043735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	851	53043735	80808160	12869	20581											
KRT2	3849	broad.mit.edu	37	chr12	53044171	53044171	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttattcagctctgaaTtctgtgatgttctttctgca	8	8	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53044171T>G	ENST00000309680.3	-	2	773	c.752A>C	c.(751-753)aAt>aCt	p.N251T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	251	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CAGCTCTGAATTCTGTGATGT	0.483													False	0	False	12:53044171	0	G	53044171	T	G	53044171	3	3	88	1	0	0	0	0	1	0	0	0	8507	1493	52	4	1199	4	KRT2	12	53044171	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	436	53044171	80807724	12870	20582											
KRT2	3849	broad.mit.edu	37	chr12	53045633	53045633	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacctccaaagctgctgccGcctccaaaaccacctcctct	4	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53045633G>T	ENST00000309680.3	-	1	315	c.294C>A	c.(292-294)ggC>ggA	p.G98G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	98	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		agctgctgccgcctccaaaac	0.627													False	0	False	12:53045633	0	T	53045633	G	T	53045633	2	4	88	1	0	0	0	0	0	0	0	1	8507	1074	38	3		3	KRT2	12	53045633	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1462	53045633	80806262	12871	20583											
KRT2	3849	broad.mit.edu	37	chr12	53045841	53045841	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctccggcttccaccagacAccacagctgagccgctgctg	9	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53045841A>G	ENST00000309680.3	-	1	107	c.86T>C	c.(85-87)gTg>gCg	p.V29A		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	29	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCCACCAGACACCACAGCTGA	0.597													False	0	False	12:53045841	0	G	53045841	A	G	53045841	3	3	88	1	0	0	0	0	1	0	0	0	8507	159	6	4	1869	4	KRT2	12	53045841	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	208	53045841	80806054	12872	20584											
KRT1	3848	broad.mit.edu	37	chr12	53069496	53069496	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatcgacttgtacttacacAcactcacgttcggggcacat	7	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53069496A>G	ENST00000252244.3	-	8	1566	c.1508T>C	c.(1507-1509)gTg>gCg	p.V503A		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	503	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GTACTTACACACACTCACGTT	0.498													False	0	True	12:53069496	0	G	53069496	A	G	53069496	3	3	88	1	0	0	0	0	1	0	0	0	8497	159	6	4	434	4	KRT1	12	53069496	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23655	53069496	80782399	12873	20585											
KRT1	3848	broad.mit.edu	37	chr12	53073598	53073598	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgatttgctccctttctcGagacttcaccttttggatct	6	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53073598G>A	ENST00000252244.3	-	1	593	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	179	Head.		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).		complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TCCCTTTCTCGAGACTTCACC	0.498													False	0	False	12:53073598	0	A	53073598	G	A	53073598	4	1	88	1	0	0	0	0	0	1	0	0	8497	1066	37	1	1435	1	KRT1	12	53073598	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4102	53073598	80778297	12874	20586											
KRT76	51350	broad.mit.edu	37	chr12	53165978	53165978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcccaggtccaggcagCggttgttgtccatggacaga	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53165978C>T	ENST00000332411.2	-	5	1090	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	346	Linker 12.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTCCAGGCAGCGGTTGTTGTC	0.567													False	0	False	12:53165978	0	T	53165978	C	T	53165978	3	4	88	1	0	0	0	0	1	0	0	0	8539	768	27	1	899	1	KRT76	12	53165978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92380	53165978	80685917	12875	20587											
KRT76	51350	broad.mit.edu	37	chr12	53170909	53170909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaggttgtagaggctgCgactgccaaagctgcctgct	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53170909C>T	ENST00000332411.2	-	1	220	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	56	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTAGAGGCTGCGACTGCCAAA	0.672													False	0	False	12:53170909	0	T	53170909	C	T	53170909	3	4	88	1	0	0	0	0	1	0	0	0	8539	768	27	1	1785	1	KRT76	12	53170909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4931	53170909	80680986	12876	20588											
KRT3	3850	broad.mit.edu	37	chr12	53186985	53186985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcattctcagcagctgtacGtttattgatttcatcctcat	5	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53186985G>A	ENST00000417996.2	-	3	963	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	KRT3_ENST00000309505.3_Missense_Mutation_p.R297C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	297	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCAGCTGTACGTTTATTGATT	0.443													False	0	True	12:53186985	0	A	53186985	G	A	53186985	3	1	88	1	0	0	0	0	1	0	0	0	8516	1145	40	1	1025	1	KRT3	12	53186985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16076	53186985	80664910	12877	20589											
KRT3	3850	broad.mit.edu	37	chr12	53189544	53189544	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagccgctcccaaagccacCtccatagccacctgcaaagg	7	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53189544C>A	ENST00000417996.2	-	1	357	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C	KRT3_ENST00000309505.3_Missense_Mutation_p.G95C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	95	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						ccaaagccacctccatagcca	0.642													False	0	False	12:53189544	0	A	53189544	C	A	53189544	3	1	88	1	0	0	0	0	1	0	0	0	8516	681	24	3	1639	3	KRT3	12	53189544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2559	53189544	80662351	12878	20590											
KRT4	3851	broad.mit.edu	37	chr12	53207653	53207653	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcgtgacccagccacacTcatggagatgcttttgttcc	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53207653T>A	ENST00000293774.4	-	1	682	c.412A>T	c.(412-414)Agt>Tgt	p.S138C	KRT4_ENST00000458244.2_Intron|KRT4_ENST00000551956.1_Missense_Mutation_p.S64C			B4DRS2	B4DRS2_HUMAN	keratin 4	64						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCAGCCACACTCATGGAGATG	0.582													False	0	False	12:53207653	0	A	53207653	T	A	53207653	3	1	88	1	0	0	0	0	1	0	0	0	8527	1551	54	5	1408	5	KRT4	12	53207653	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18109	53207653	80644242	12879	20591											
KRT79	338785	broad.mit.edu	37	chr12	53224076	53224076	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgatttcatcctcgtaCctgttacacatgggagactc	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53224076C>T	ENST00000330553.5	-	3	733	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	233	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCCTCGTACCTGTTACACA	0.572													False	0	False	12:53224076	0	T	53224076	C	T	53224076	5	4	88	1	0	0	0	0	0	0	1	0	8542	521	18	2	936	2	KRT79	12	53224076	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16423	53224076	80627819	12880	20592											
KRT79	338785	broad.mit.edu	37	chr12	53227585	53227585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttgtcgatgaaggaggCgaacttgttgttgagggtct	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53227585C>T	ENST00000330553.5	-	1	494	c.460G>A	c.(460-462)Gcc>Acc	p.A154T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	154	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGAAGGAGGCGAACTTGTTG	0.612													False	0	False	12:53227585	0	T	53227585	C	T	53227585	3	4	88	1	0	0	0	0	1	0	0	0	8542	768	27	1	1183	1	KRT79	12	53227585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3509	53227585	80624310	12881	20593											
EIF4B	1975	broad.mit.edu	37	chr12	53421816	53421816	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggctatgattcccggataGgcagtggcagaagagcattt	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53421816G>T	ENST00000262056.9	+	8	1149	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.G236C|EIF4B_ENST00000420463.3_Missense_Mutation_p.G275C	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	275	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TTCCCGGATAGGCAGTGGCAG	0.473													False	0	False	12:53421816	0	T	53421816	G	T	53421816	3	4	88	1	0	0	0	0	1	0	0	0	5059	1000	35	3	853	3	EIF4B	12	53421816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194231	53421816	80430079	12882	20594											
EIF4B	1975	broad.mit.edu	37	chr12	53421850	53421850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatttggcagtgggtatcGcagggatgatgactacagag	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53421850G>A	ENST00000262056.9	+	8	1183	c.857G>A	c.(856-858)cGc>cAc	p.R286H	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.R247H|EIF4B_ENST00000420463.3_Missense_Mutation_p.R286H	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	286	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						AGTGGGTATCGCAGGGATGAT	0.498													False	0	False	12:53421850	0	A	53421850	G	A	53421850	3	1	88	1	0	0	0	0	1	0	0	0	5059	1087	38	1	887	1	EIF4B	12	53421850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	53421850	80430045	12883	20595											
EIF4B	1975	broad.mit.edu	37	chr12	53427635	53427635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctaaagcctcggagtactcCtaaggaagatgattcctctg	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53427635C>A	ENST00000262056.9	+	9	1351	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.P303H|EIF4B_ENST00000420463.3_Missense_Mutation_p.P342H	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	342					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CGGAGTACTCCTAAGGAAGAT	0.458													False	0	False	12:53427635	0	A	53427635	C	A	53427635	3	1	88	1	0	0	0	0	1	0	0	0	5059	681	24	3	1059	3	EIF4B	12	53427635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5785	53427635	80424260	12884	20596											
TENC1	23371	broad.mit.edu	37	chr12	53454543	53454543	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttgccccctgtttcccaGgcaggcaccggaaaggcccc	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53454543G>A	ENST00000314250.6	+	20	3143	c.2853G>A	c.(2851-2853)caG>caA	p.Q951Q	TENC1_ENST00000549700.1_Silent_p.Q886Q|TENC1_ENST00000314276.3_Silent_p.Q961Q|TENC1_ENST00000379902.3_Silent_p.Q827Q|TENC1_ENST00000552570.1_Silent_p.Q951Q|TENC1_ENST00000451358.1_Silent_p.Q941Q|TENC1_ENST00000546602.1_Silent_p.Q854Q	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	951	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTGTTTCCCAGGCAGGCACCG	0.687													False	0	True	12:53454543	0	A	53454543	G	A	53454543	2	1	88	1	0	0	0	0	0	0	0	1	15840	991	35	2		2	TENC1	12	53454543	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26908	53454543	80397352	12885	20597											
TENC1	23371	broad.mit.edu	37	chr12	53456960	53456960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagctctgcagctctgaGctgtagcccccgcccgacac	11	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53456960G>A	ENST00000314250.6	+	26	4201	c.3911G>A	c.(3910-3912)aGc>aAc	p.S1304N	TENC1_ENST00000549700.1_Missense_Mutation_p.S1239N|TENC1_ENST00000314276.3_Missense_Mutation_p.S1314N|TENC1_ENST00000379902.3_Missense_Mutation_p.S1180N|TENC1_ENST00000552570.1_Missense_Mutation_p.S1302N|TENC1_ENST00000451358.1_Missense_Mutation_p.S1294N|TENC1_ENST00000546602.1_Missense_Mutation_p.S1207N	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1304					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCAGCTCTGAGCTGTAGCCCC	0.607													False	0	False	12:53456960	0	A	53456960	G	A	53456960	3	1	88	1	0	0	0	0	1	0	0	0	15840	971	34	2	4122	2	TENC1	12	53456960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2417	53456960	80394935	12886	20598											
SOAT2	8435	broad.mit.edu	37	chr12	53497948	53497948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacaggaaacactgagacGcacagagccccggacttggt	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53497948G>A	ENST00000301466.3	+	2	156	c.96G>A	c.(94-96)acG>acA	p.T32T		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	32					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						ACACTGAGACGCACAGAGCCC	0.547													False	0	False	12:53497948	0	A	53497948	G	A	53497948	2	1	88	1	0	0	0	0	0	0	0	1	14991	1074	38	1		1	SOAT2	12	53497948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40988	53497948	80353947	12887	20599											
CSAD	51380	broad.mit.edu	37	chr12	53565117	53565117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctcttccccacctccttcGatgtgaatagggccaggggc	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53565117G>A	ENST00000267085.4	-	8	874	c.641C>T	c.(640-642)tCg>tTg	p.S214L	CSAD_ENST00000444623.1_Missense_Mutation_p.S187L|CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000453446.2_Missense_Mutation_p.S187L|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000379843.3_Intron	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	187					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CACCTCCTTCGATGTGAATAG	0.587													False	0	False	12:53565117	0	A	53565117	G	A	53565117	3	1	88	1	0	0	0	0	1	0	0	0	3948	1059	37	1	961	1	CSAD	12	53565117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67169	53565117	80286778	12888	20600											
ITGB7	3695	broad.mit.edu	37	chr12	53590575	53590575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgtgctcacaaagggcaGcaccgttttgtccacaaagg	10	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53590575G>A	ENST00000267082.5	-	6	835	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	ITGB7_ENST00000422257.3_Silent_p.L202L|ITGB7_ENST00000550743.2_Silent_p.L202L|ITGB7_ENST00000338737.4_Silent_p.L202L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	202	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAAAGGGCAGCACCGTTTTG	0.587													False	0	False	12:53590575	0	A	53590575	G	A	53590575	2	1	88	1	0	0	0	0	0	0	0	1	7950	962	34	2		2	ITGB7	12	53590575	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25458	53590575	80261320	12889	20601											
RARG	5916	broad.mit.edu	37	chr12	53607427	53607427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccggttcagggtcagccCgtcggagaaggtcatggtgt	17	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53607427C>T	ENST00000425354.2	-	8	1358	c.871G>A	c.(871-873)Ggg>Agg	p.G291R	RARG_ENST00000338561.5_Missense_Mutation_p.G280R|RARG_ENST00000394426.1_Missense_Mutation_p.G291R|RARG_ENST00000327550.3_Missense_Mutation_p.G219R|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.G269R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	291	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGGTCAGCCCGTCGGAGAAG	0.617											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	12:53607427	0	T	53607427	C	T	53607427	3	4	88	1	0	0	0	0	1	0	0	0	13133	652	23	1	505	1	RARG	12	53607427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16852	53607427	80244468	12890	20602											
RARG	5916	broad.mit.edu	37	chr12	53607995	53607995	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagccccagatccagctGcacgcggtggtctgcactgg	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53607995G>A	ENST00000425354.2	-	7	1148	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	RARG_ENST00000338561.5_Nonsense_Mutation_p.Q210*|RARG_ENST00000394426.1_Nonsense_Mutation_p.Q221*|RARG_ENST00000327550.3_Nonsense_Mutation_p.Q149*|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Nonsense_Mutation_p.Q199*	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	221	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGATCCAGCTGCACGCGGTGG	0.567													False	0	False	12:53607995	0	A	53607995	G	A	53607995	4	1	88	1	0	0	0	0	0	1	0	0	13133	1328	46	2	719	2	RARG	12	53607995	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	568	53607995	80243900	12891	20603											
ESPL1	9700	broad.mit.edu	37	chr12	53675330	53675330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catcgagcctgaagcatctcGatcagactactgacacatac	7	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53675330G>A	ENST00000257934.4	+	13	2630	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	ESPL1_ENST00000552462.1_Missense_Mutation_p.D847N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	847					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAAGCATCTCGATCAGACTAC	0.478													False	0	False	12:53675330	0	A	53675330	G	A	53675330	3	1	88	1	0	0	0	0	1	0	0	0	5285	1058	37	1	2585	1	ESPL1	12	53675330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67335	53675330	80176565	12892	20604											
ESPL1	9700	broad.mit.edu	37	chr12	53680262	53680262	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcctgcagaaggttctaCagtcagggctgaagtttgta	13	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53680262C>T	ENST00000257934.4	+	18	3833	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.Q1248*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1248					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAAGGTTCTACAGTCAGGGCT	0.557													False	0	False	12:53680262	0	T	53680262	C	T	53680262	4	4	88	1	0	0	0	0	0	1	0	0	5285	479	17	2	3808	2	ESPL1	12	53680262	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4932	53680262	80171633	12893	20605											
AAAS	8086	broad.mit.edu	37	chr12	53708104	53708104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtagacaaggaggtagggtCcagggtccagataagaatgc	16	6	0	3	rs141013947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53708104C>T	ENST00000209873.4	-	7	832	c.667G>A	c.(667-669)Gac>Aac	p.D223N	AAAS_ENST00000550286.1_Missense_Mutation_p.D99N|AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Missense_Mutation_p.D190N	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	223					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GAGGTAGGGTCCAGGGTCCAG	0.582													False	0	True	12:53708104	0	T	53708104	C	T	53708104	3	4	88	1	0	0	0	0	1	0	0	0	8	855	30	2	1013	2	AAAS	12	53708104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27842	53708104	80143791	12894	20606											
SP7	121340	broad.mit.edu	37	chr12	53722858	53722858	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagagaggtgtagacactgGgcagacagtcagaagagctg	15	8	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53722858G>T	ENST00000536324.2	-	3	651	c.368C>A	c.(367-369)cCc>cAc	p.P123H	SP7_ENST00000303846.3_Missense_Mutation_p.P123H|SP7_ENST00000537210.2_Missense_Mutation_p.P105H	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GTAGACACTGGGCAGACAGTC	0.577													False	0	True	12:53722858	0	T	53722858	G	T	53722858	3	4	88	1	0	0	0	0	1	0	0	0	15049	1232	43	3	931	3	SP7	12	53722858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14754	53722858	80129037	12895	20607											
SP1	0	broad.mit.edu	37	chr12	53776411	53776411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcaacatcattgctgCtatgccaaacctactccagc	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53776411C>A	ENST00000426431.2	+	3	719	c.659C>A	c.(658-660)gCt>gAt	p.A220D	SP1_ENST00000327443.4_Missense_Mutation_p.A227D	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	227	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATCATTGCTGCTATGCCAAAC	0.502													False	0	False	12:53776411	0	A	53776411	C	A	53776411	3	1	88	1	0	0	0	0	1	0	0	0	15039	797	28	3	690	3	SP1	12	53776411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53553	53776411	80075484	12896	20608											
AMHR2	269	broad.mit.edu	37	chr12	53818959	53818959	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatgtccaggtgagtccatCtggatggcactggtgctgct	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53818959C>A	ENST00000257863.4	+	4	515	c.435C>A	c.(433-435)atC>atA	p.I145I	AMHR2_ENST00000379791.3_Silent_p.I145I|AMHR2_ENST00000550311.1_Silent_p.I145I	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	145					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GTGAGTCCATCTGGATGGCAC	0.587													False	0	False	12:53818959	0	A	53818959	C	A	53818959	2	1	88	1	0	0	0	0	0	0	0	1	573	903	32	3		3	AMHR2	12	53818959	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42548	53818959	80032936	12897	20609											
AMHR2	269	broad.mit.edu	37	chr12	53823757	53823757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccgctgcccagatttgaGgcctggtaaggatgggtggt	17	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53823757G>A	ENST00000257863.4	+	9	1363	c.1283G>A	c.(1282-1284)aGg>aAg	p.R428K	AMHR2_ENST00000379791.3_Intron|AMHR2_ENST00000550311.1_Missense_Mutation_p.R428K	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	428	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCAGATTTGAGGCCTGGTAAG	0.587													False	0	False	12:53823757	0	A	53823757	G	A	53823757	3	1	88	1	0	0	0	0	1	0	0	0	573	1000	35	2	1317	2	AMHR2	12	53823757	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4798	53823757	80028138	12898	20610											
AMHR2	269	broad.mit.edu	37	chr12	53823984	53823984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaactgggcaatacccCtacctctgatgagctatggg	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53823984C>T	ENST00000257863.4	+	10	1423	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	AMHR2_ENST00000379791.3_Intron|AMHR2_ENST00000550311.1_Silent_p.L447L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	448	Protein kinase.		Missing (in PMDS2).		Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGCAATACCCCTACCTCTGAT	0.587													False	0	True	12:53823984	0	T	53823984	C	T	53823984	3	4	88	1	0	0	0	0	1	0	0	0	573	681	24	2	1381	2	AMHR2	12	53823984	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	53823984	80027911	12899	20611											
AMHR2	269	broad.mit.edu	37	chr12	53825160	53825160	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aattcctgcccctaccatccTcccctgtaggcctcagcgga	7	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53825160T>A	ENST00000257863.4	+	11	1705	c.1625T>A	c.(1624-1626)cTc>cAc	p.L542H	AMHR2_ENST00000379791.3_Missense_Mutation_p.L447H|AMHR2_ENST00000550311.1_3'UTR	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	542					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCTACCATCCTCCCCTGTAGG	0.577													False	0	True	12:53825160	0	A	53825160	T	A	53825160	3	1	88	1	0	0	0	0	1	0	0	0	573	1551	54	5	1667	5	AMHR2	12	53825160	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1176	53825160	80026735	12900	20612											
PCBP2	5094	broad.mit.edu	37	chr12	53861069	53861069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgacgcatggcaacaccgGattcagtggtatggatacct	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53861069G>A	ENST00000603815.1	+	11	1141	c.791G>A	c.(790-792)gGa>gAa	p.G264E	PCBP2_ENST00000549863.1_Missense_Mutation_p.G219E|PCBP2_ENST00000552819.1_Missense_Mutation_p.G233E|PCBP2_ENST00000447282.1_Missense_Mutation_p.G233E|PCBP2_ENST00000439930.3_Missense_Mutation_p.G264E|PCBP2_ENST00000359462.5_Missense_Mutation_p.G264E|PCBP2_ENST00000437231.1_Missense_Mutation_p.G229E|PCBP2_ENST00000359282.5_Missense_Mutation_p.G229E|PCBP2_ENST00000546463.1_Missense_Mutation_p.G260E|PCBP2_ENST00000455667.3_Missense_Mutation_p.G229E|PCBP2_ENST00000548933.1_Missense_Mutation_p.G233E|PCBP2_ENST00000552296.2_Missense_Mutation_p.G260E|PCBP2_ENST00000541275.1_Missense_Mutation_p.G260E|RP11-793H13.8_ENST00000547717.1_RNA	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	264					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GGCAACACCGGATTCAGTGGT	0.463													False	0	False	12:53861069	0	A	53861069	G	A	53861069	3	1	88	1	0	0	0	0	1	0	0	0	11569	1174	41	2	829	2	PCBP2	12	53861069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35909	53861069	79990826	12901	20613											
PCBP2	5094	broad.mit.edu	37	chr12	53873226	53873226	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtggcatggggagcagctaGaacaatgcagattcatccat	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53873226G>A	ENST00000603815.1	+	15	1448	c.1098G>A	c.(1096-1098)taG>taA	p.*366*	PCBP2_ENST00000549863.1_Silent_p.*322*|PCBP2_ENST00000552819.1_Silent_p.*323*|PCBP2_ENST00000447282.1_Silent_p.*336*|PCBP2_ENST00000439930.3_Silent_p.*366*|PCBP2_ENST00000359462.5_Silent_p.*367*|PCBP2_ENST00000437231.1_Silent_p.*319*|PCBP2_ENST00000359282.5_Silent_p.*332*|PCBP2_ENST00000546463.1_Silent_p.*363*|PCBP2_ENST00000455667.3_Silent_p.*319*|PCBP2_ENST00000548933.1_Silent_p.*336*|PCBP2_ENST00000552296.2_Silent_p.*362*	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	0					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GGAGCAGCTAGAACAATGCAG	0.478													False	0	False	12:53873226	0	A	53873226	G	A	53873226	2	1	88	1	0	0	0	0	0	0	0	1	11569	937	33	2		2	PCBP2	12	53873226	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12157	53873226	79978669	12902	20614											
MAP3K12	7786	broad.mit.edu	37	chr12	53879181	53879181	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgtccctgcaaaggacatCttggtgctcttgtcactcag	9	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53879181C>A	ENST00000267079.2	-	6	1026	c.801G>T	c.(799-801)aaG>aaT	p.K267N	MAP3K12_ENST00000547035.1_Missense_Mutation_p.K300N|MAP3K12_ENST00000547488.1_Missense_Mutation_p.K300N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	267	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAAAGGACATCTTGGTGCTCT	0.502													False	0	False	12:53879181	0	A	53879181	C	A	53879181	3	1	88	1	0	0	0	0	1	0	0	0	9313	912	32	3	1818	3	MAP3K12	12	53879181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5955	53879181	79972714	12903	20615											
MAP3K12	7786	broad.mit.edu	37	chr12	53880791	53880791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcatggtccagacagggcGcaggcagccaaagaggccct	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53880791G>A	ENST00000267079.2	-	3	511	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	MAP3K12_ENST00000547035.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547151.1_5'UTR	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	96					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAGACAGGGCGCAGGCAGCCA	0.602													False	0	True	12:53880791	0	A	53880791	G	A	53880791	3	1	88	1	0	0	0	0	1	0	0	0	9313	1087	38	1	2345	1	MAP3K12	12	53880791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1610	53880791	79971104	12904	20616											
MAP3K12	7786	broad.mit.edu	37	chr12	53880946	53880946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagctgcaggacactgttgGcaaaaggctcagggggcggc	17	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53880946G>A	ENST00000547035.1	-	2	434	c.230C>T	c.(229-231)gCc>gTc	p.A77V	MAP3K12_ENST00000267079.2_Intron|MAP3K12_ENST00000547488.1_Missense_Mutation_p.A77V|MAP3K12_ENST00000547151.1_Intron			Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	46					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GACACTGTTGGCAAAAGGCTC	0.652													False	0	False	12:53880946	0	A	53880946	G	A	53880946	3	1	88	1	0	0	0	0	1	0	0	0	9313	1218	42	2		2	MAP3K12	12	53880946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155	53880946	79970949	12905	20617											
TARBP2	6895	broad.mit.edu	37	chr12	53898552	53898552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtctgggccagcccaccGcaaagaattcaccatgacct	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53898552G>A	ENST00000266987.2	+	6	1049	c.566G>A	c.(565-567)cGc>cAc	p.R189H	TARBP2_ENST00000456234.2_Missense_Mutation_p.R168H|TARBP2_ENST00000552857.1_Missense_Mutation_p.R98H|TARBP2_ENST00000394357.2_Missense_Mutation_p.R168H	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	189	DRBM 2.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						CCAGCCCACCGCAAAGAATTC	0.587													False	0	False	12:53898552	0	A	53898552	G	A	53898552	3	1	88	1	0	0	0	0	1	0	0	0	15638	1087	38	1	588	1	TARBP2	12	53898552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17606	53898552	79953343	12906	20618											
TARBP2	6895	broad.mit.edu	37	chr12	53899866	53899866	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctgcaaccaccagggaGgcagcccgtggtgaggctgc	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53899866G>A	ENST00000266987.2	+	9	1518	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	TARBP2_ENST00000456234.2_Silent_p.E324E|TARBP2_ENST00000552857.1_3'UTR|TARBP2_ENST00000394357.2_Silent_p.E324E	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	345	DRBM 3.|Sufficient for interaction with DICER1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						CCACCAGGGAGGCAGCCCGTG	0.632													False	0	False	12:53899866	0	A	53899866	G	A	53899866	2	1	88	1	0	0	0	0	0	0	0	1	15638	991	35	2		2	TARBP2	12	53899866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1314	53899866	79952029	12907	20619											
NPFF	8620	broad.mit.edu	37	chr12	53901208	53901208	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccttcagcacagcccccGtctattaacagcagcagcac	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53901208G>A	ENST00000609999.1	-	0	164				NPFF_ENST00000267017.3_Silent_p.D17D|RP11-793H13.10_ENST00000591834.1_Intron			O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CACAGCCCCCGTCTATTAACA	0.582													False	0	True	12:53901208	0	A	53901208	G	A	53901208	1	1	88	1	0	0	0	0	0	0	0	0	10644	1136	40	1		1	NPFF	12	53901208	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1342	53901208	79950687	12908	20620											
HOXC13	3229	broad.mit.edu	37	chr12	54333171	54333171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagccgtcgggcgccctgCccggtgacgacctgtcctct	14	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54333171C>T	ENST00000243056.3	+	1	637	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	161						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GGGCGCCCTGCCCGGTGACGA	0.657			T	NUP98	AML								False	0	True	12:54333171	0	T	54333171	C	T	54333171	3	4	88	1	0	0	0	0	1	0	0	0	7359	739	26	2	483	2	HOXC13	12	54333171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	431963	54333171	79518724	12909	20621											
HOXC11	3227	broad.mit.edu	37	chr12	54367428	54367428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccccgcacgcaacccccGccggcttctactcctcagtc	8	22	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54367428G>A	ENST00000546378.1	+	1	519	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	HOXC11_ENST00000243082.4_Missense_Mutation_p.A135T|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	135					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CGCAACCCCCGCCGGCTTCTA	0.657			T	NUP98	AML								False	0	True	12:54367428	0	A	54367428	G	A	54367428	3	1	88	1	0	0	0	0	1	0	0	0	7357	1087	38	1	405	1	HOXC11	12	54367428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34257	54367428	79484467	12910	20622											
HOXC9	3225	broad.mit.edu	37	chr12	54394142	54394142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtcctgtagcttcgcgcCcaagccggcagtgttcagca	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54394142C>T	ENST00000303450.4	+	1	240	c.170C>T	c.(169-171)cCc>cTc	p.P57L	HOXC9_ENST00000508190.1_Missense_Mutation_p.P57L|HOXC9_ENST00000504557.1_Intron|RP11-834C11.12_ENST00000513209.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	57					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGCTTCGCGCCCAAGCCGGCA	0.687													False	0	True	12:54394142	0	T	54394142	C	T	54394142	3	4	88	1	0	0	0	0	1	0	0	0	7364	623	22	2	172	2	HOXC9	12	54394142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26714	54394142	79457753	12911	20623											
HOXC5	3222	broad.mit.edu	37	chr12	54426931	54426931	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcctacgtagccaattcaTtctataagcagagccccaat	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54426931T>G	ENST00000312492.2	+	1	295	c.25T>G	c.(25-27)Ttc>Gtc	p.F9V	RP11-834C11.14_ENST00000512206.1_RNA|HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	9					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AGCCAATTCATTCTATAAGCA	0.493											OREG0021884	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	12:54426931	0	G	54426931	T	G	54426931	3	3	88	1	0	0	0	0	1	0	0	0	7361	1493	52	4	27	4	HOXC5	12	54426931	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32789	54426931	79424964	12912	20624											
HOXC4	3221	broad.mit.edu	37	chr12	54448914	54448914	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctttcggcagctaccccGggtacttctgaagaccactc	8	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54448914G>A	ENST00000430889.2	+	2	766	c.720G>A	c.(718-720)ccG>ccA	p.P240P	HOXC4_ENST00000303406.4_Silent_p.P240P|HOXC4_ENST00000609810.1_Silent_p.P240P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CAGCTACCCCGGGTACTTCTG	0.617													False	0	True	12:54448914	0	A	54448914	G	A	54448914	2	1	88	1	0	0	0	0	0	0	0	1	7360	1103	39	1		1	HOXC4	12	54448914	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21983	54448914	79402981	12913	20625											
SMUG1	23583	broad.mit.edu	37	chr12	54575966	54575966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgttggcctgtgggttacGgggagagggatgcaggagcc	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54575966G>A	ENST00000508394.2	-	3	789	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SMUG1_ENST00000401977.2_Missense_Mutation_p.R243C|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.R243C|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000243112.5_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	243					depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						TGTGGGTTACGGGGAGAGGGA	0.642								Base excision repair (BER), DNA glycosylases					False	0	True	12:54575966	0	A	54575966	G	A	54575966	3	1	88	1	0	0	0	0	1	0	0	0	14898	1116	39	1	89	1	SMUG1	12	54575966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127052	54575966	79275929	12914	20626											
NFE2	4778	broad.mit.edu	37	chr12	54686881	54686881	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttggggcttaggtggcccTgctggcagcccaatgtccag	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54686881T>C	ENST00000540264.2	-	2	908	c.399A>G	c.(397-399)gcA>gcG	p.A133A	NFE2_ENST00000553070.1_Silent_p.A133A|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Silent_p.A133A|NFE2_ENST00000312156.4_Silent_p.A133A			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	133	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TAGGTGGCCCTGCTGGCAGCC	0.582													False	0	True	12:54686881	0	C	54686881	T	C	54686881	2	2	88	1	0	0	0	0	0	0	0	1	10434	1567	55	4		4	NFE2	12	54686881	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110915	54686881	79165014	12915	20627											
ITGA5	3678	broad.mit.edu	37	chr12	54795226	54795226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctcggggatgccagtcGcttactgggaatagcactgc	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54795226G>A	ENST00000293379.4	-	24	2685	c.2424C>T	c.(2422-2424)agC>agT	p.S808S	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	808					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GATGCCAGTCGCTTACTGGGA	0.572													False	0	False	12:54795226	0	A	54795226	G	A	54795226	2	1	88	1	0	0	0	0	0	0	0	1	7929	1078	38	1		1	ITGA5	12	54795226	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108345	54795226	79056669	12916	20628											
ITGA5	3678	broad.mit.edu	37	chr12	54797065	54797065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtccaaggagaagttgagaGcgatgtgaatcggcgagagt	17	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54797065G>T	ENST00000293379.4	-	18	2081	c.1820C>A	c.(1819-1821)gCt>gAt	p.A607D	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	607					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GAAGTTGAGAGCGATGTGAAT	0.572													False	0	False	12:54797065	0	T	54797065	G	T	54797065	3	4	88	1	0	0	0	0	1	0	0	0	7929	971	34	3	1381	3	ITGA5	12	54797065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1839	54797065	79054830	12917	20629											
ITGA5	3678	broad.mit.edu	37	chr12	54802689	54802689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctcaccttggtgaactcGgcactgaagcctccttggca	9	14	2	2	rs147213910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54802689G>A	ENST00000293379.4	-	5	894	c.633C>T	c.(631-633)gcC>gcT	p.A211A	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	211					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGGTGAACTCGGCACTGAAGC	0.577													False	0	False	12:54802689	0	A	54802689	G	A	54802689	2	1	88	1	0	0	0	0	0	0	0	1	7929	1103	39	1		1	ITGA5	12	54802689	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5624	54802689	79049206	12918	20630											
NCKAP1L	3071	broad.mit.edu	37	chr12	54905762	54905762	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtcatgggtgcctcAactccaatagccagtgccag	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54905762A>G	ENST00000293373.6	+	9	893	c.814A>G	c.(814-816)Aac>Gac	p.N272D	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.N222D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	272					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGGTGCCTCAACTCCAATAG	0.483													False	0	False	12:54905762	0	G	54905762	A	G	54905762	3	3	88	1	0	0	0	0	1	0	0	0	10290	130	5	4	848	4	NCKAP1L	12	54905762	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103073	54905762	78946133	12919	20631											
NCKAP1L	3071	broad.mit.edu	37	chr12	54920455	54920455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcttccagagtcatccGcaacgccctcctgcagcaga	9	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54920455G>A	ENST00000293373.6	+	21	2379	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R717H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	767					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.R767H(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGAGTCATCCGCAACGCCCTC	0.512													False	0	False	12:54920455	0	A	54920455	G	A	54920455	3	1	88	1	0	0	0	0	1	0	0	0	10290	1087	38	1	2382	1	NCKAP1L	12	54920455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14693	54920455	78931440	12920	20632											
PDE1B	0	broad.mit.edu	37	chr12	54969384	54969384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttctccactctgtgaccGcacttccactctagtggcac	6	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54969384G>A	ENST00000243052.3	+	12	1671	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	PDE1B_ENST00000538346.1_Missense_Mutation_p.R371H|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R392H	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	412	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CTCTGTGACCGCACTTCCACT	0.572													False	0	False	12:54969384	0	A	54969384	G	A	54969384	3	1	88	1	0	0	0	0	1	0	0	0	11702	1087	38	1	1334	1	PDE1B	12	54969384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48929	54969384	78882511	12921	20633											
LACRT	90070	broad.mit.edu	37	chr12	55028594	55028594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaccagggcccctgctacaGctgccaagaagaggagagtg	14	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55028594G>T	ENST00000257867.4	-	1	85	c.32C>A	c.(31-33)gCt>gAt	p.A11D	LACRT_ENST00000547511.1_Missense_Mutation_p.A11D	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	11					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CCCTGCTACAGCTGCCAAGAA	0.527													False	0	False	12:55028594	0	T	55028594	G	T	55028594	3	4	88	1	0	0	0	0	1	0	0	0	8647	971	34	3	404	3	LACRT	12	55028594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59210	55028594	78823301	12922	20634											
OR9K2	441639	broad.mit.edu	37	chr12	55524378	55524378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgggagttgtgagtgtgCtgtatggtgctgtctttttt	14	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55524378C>T	ENST00000305377.5	+	1	914	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGAGTGTGCTGTATGGTGC	0.438													False	0	False	12:55524378	0	T	55524378	C	T	55524378	2	4	88	1	0	0	0	0	0	0	0	1	11322	796	28	2		2	OR9K2	12	55524378	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	495784	55524378	78327517	12923	20635											
OR6C74	254783	broad.mit.edu	37	chr12	55641685	55641685	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcagccattttgacgcTcctggttacactggtattag	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55641685T>G	ENST00000343870.4	+	1	704	c.614T>G	c.(613-615)cTc>cGc	p.L205R		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATTTTGACGCTCCTGGTTACA	0.368													False	0	False	12:55641685	0	G	55641685	T	G	55641685	3	3	88	1	0	0	0	0	1	0	0	0	11266	1551	54	4	616	4	OR6C74	12	55641685	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117307	55641685	78210210	12924	20636											
OR6C1	390321	broad.mit.edu	37	chr12	55714983	55714983	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgatgggattttcttgTgctgcgtttactctaatgtt	12	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55714983T>G	ENST00000379668.2	+	1	638	c.600T>G	c.(598-600)tgT>tgG	p.C200W		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GATTTTCTTGTGCTGCGTTTA	0.348													False	0	False	12:55714983	0	G	55714983	T	G	55714983	3	3	88	1	0	0	0	0	1	0	0	0	11258	1702	59	4	602	4	OR6C1	12	55714983	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	73298	55714983	78136912	12925	20637											
OR6C3	254786	broad.mit.edu	37	chr12	55725792	55725792	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaactctttttctttatctTcatgggggtgactgaatttt	7	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55725792T>C	ENST00000379667.1	+	1	308	c.308T>C	c.(307-309)tTc>tCc	p.F103S		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCTTTATCTTCATGGGGGTG	0.418													False	0	False	12:55725792	0	C	55725792	T	C	55725792	3	2	88	1	0	0	0	0	1	0	0	0	11260	1783	62	4	310	4	OR6C3	12	55725792	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10809	55725792	78126103	12926	20638											
OR6C70	390327	broad.mit.edu	37	chr12	55863420	55863420	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgatcaatgatatttgaaGcacagaaatccaagttaaga	7	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55863420G>T	ENST00000327335.4	-	1	502	c.503C>A	c.(502-504)gCt>gAt	p.A168D	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GATATTTGAAGCACAGAAATC	0.353													False	0	False	12:55863420	0	T	55863420	G	T	55863420	3	4	88	1	0	0	0	0	1	0	0	0	11265	971	34	3	437	3	OR6C70	12	55863420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137628	55863420	77988475	12927	20639											
OR10P1	121130	broad.mit.edu	37	chr12	56031342	56031342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcttacatccgcatcCtgggtgccatcctagcaatg	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56031342C>A	ENST00000309675.2	+	1	699	c.667C>A	c.(667-669)Ctg>Atg	p.L223M		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CATCCGCATCCTGGGTGCCAT	0.552													False	0	False	12:56031342	0	A	56031342	C	A	56031342	3	1	88	1	0	0	0	0	1	0	0	0	10983	680	24	3	669	3	OR10P1	12	56031342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167922	56031342	77820553	12928	20640											
METTL7B	196410	broad.mit.edu	37	chr12	56075767	56075767	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagtggccctactggagCtgggctgcggaaccggagcc	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56075767C>A	ENST00000394252.3	+	1	438	c.229C>A	c.(229-231)Ctg>Atg	p.L77M		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	77							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						CCTACTGGAGCTGGGCTGCGG	0.572													False	0	False	12:56075767	0	A	56075767	C	A	56075767	3	1	88	1	0	0	0	0	1	0	0	0	9573	796	28	3	231	3	METTL7B	12	56075767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44425	56075767	77776128	12929	20641											
ITGA7	3679	broad.mit.edu	37	chr12	56091492	56091492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcacctgaagagcactgCggtgtcagccagggagccca	14	13	2	2	rs61733964	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56091492C>T	ENST00000257880.7	-	10	1747	c.1528G>A	c.(1528-1530)Gca>Aca	p.A510T	ITGA7_ENST00000553804.1_Missense_Mutation_p.A470T|ITGA7_ENST00000555728.1_Missense_Mutation_p.A510T|ITGA7_ENST00000394229.2_Missense_Mutation_p.A466T|ITGA7_ENST00000347027.6_Missense_Mutation_p.A466T|ITGA7_ENST00000394230.2_Missense_Mutation_p.A470T|ITGA7_ENST00000257879.6_Missense_Mutation_p.A466T|ITGA7_ENST00000452168.2_Missense_Mutation_p.A373T			Q13683	ITA7_HUMAN	integrin, alpha 7	510					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGAGCACTGCGGTGTCAGCC	0.597													False	0	False	12:56091492	0	T	56091492	C	T	56091492	3	4	88	1	0	0	0	0	1	0	0	0	7931	768	27	1	2085	1	ITGA7	12	56091492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15725	56091492	77760403	12930	20642											
ITGA7	3679	broad.mit.edu	37	chr12	56092293	56092293	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctggttcaagtacacatAcacagcaccccccagctctt	5	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56092293A>G	ENST00000257880.7	-	8	1417	c.1198T>C	c.(1198-1200)Tat>Cat	p.Y400H	ITGA7_ENST00000553804.1_Missense_Mutation_p.Y360H|ITGA7_ENST00000555728.1_Missense_Mutation_p.Y400H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Y356H|ITGA7_ENST00000347027.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000394230.2_Missense_Mutation_p.Y360H|ITGA7_ENST00000257879.6_Missense_Mutation_p.Y356H|ITGA7_ENST00000452168.2_Missense_Mutation_p.Y263H			Q13683	ITA7_HUMAN	integrin, alpha 7	400					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGTACACATACACAGCACCC	0.607													False	0	True	12:56092293	0	G	56092293	A	G	56092293	3	3	88	1	0	0	0	0	1	0	0	0	7931	391	14	4	2423	4	ITGA7	12	56092293	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	801	56092293	77759602	12931	20643											
ITGA7	3679	broad.mit.edu	37	chr12	56092537	56092537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagtgagtagccaaagcCggaggtcaggcgctccccag	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56092537C>T	ENST00000257880.7	-	7	1306	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	ITGA7_ENST00000553804.1_Missense_Mutation_p.G323S|ITGA7_ENST00000555728.1_Missense_Mutation_p.G363S|ITGA7_ENST00000394229.2_Missense_Mutation_p.G319S|ITGA7_ENST00000347027.6_Missense_Mutation_p.G319S|ITGA7_ENST00000394230.2_Missense_Mutation_p.G323S|ITGA7_ENST00000257879.6_Missense_Mutation_p.G319S|ITGA7_ENST00000452168.2_Missense_Mutation_p.G226S			Q13683	ITA7_HUMAN	integrin, alpha 7	363					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TAGCCAAAGCCGGAGGTCAGG	0.647													False	0	False	12:56092537	0	T	56092537	C	T	56092537	3	4	88	1	0	0	0	0	1	0	0	0	7931	652	23	1	2538	1	ITGA7	12	56092537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	244	56092537	77759358	12932	20644											
ITGA7	3679	broad.mit.edu	37	chr12	56094883	56094883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcgaccaatcatatccCgcgtctccaggatctggtcc	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56094883C>T	ENST00000257880.7	-	4	689	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	ITGA7_ENST00000553804.1_Missense_Mutation_p.R157Q|ITGA7_ENST00000555728.1_Missense_Mutation_p.R157Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R157Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R157Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R157Q|ITGA7_ENST00000452168.2_Missense_Mutation_p.R60Q			Q13683	ITA7_HUMAN	integrin, alpha 7	157					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AATCATATCCCGCGTCTCCAG	0.602													False	0	True	12:56094883	0	T	56094883	C	T	56094883	3	4	88	1	0	0	0	0	1	0	0	0	7931	652	23	1	3167	1	ITGA7	12	56094883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2346	56094883	77757012	12933	20645											
BLOC1S1	2647	broad.mit.edu	37	chr12	56113380	56113380	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctacaaagggcagctgcagtCtgccccttcctagcccctgt	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56113380C>A	ENST00000547076.1	+	4	730	c.215C>A	c.(214-216)tCt>tAt	p.S72Y	BLOC1S1_ENST00000548925.1_Missense_Mutation_p.S150Y|BLOC1S1_ENST00000257899.2_Missense_Mutation_p.S122Y|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.S72Y|RP11-644F5.10_ENST00000549424.1_Intron|BLOC1S1_ENST00000549147.1_3'UTR|RP11-644F5.10_ENST00000550412.1_Intron			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	150					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						CAGCTGCAGTCTGCCCCTTCC	0.577													False	0	False	12:56113380	0	A	56113380	C	A	56113380	3	1	88	1	0	0	0	0	1	0	0	0	1453	913	32	3	379	3	BLOC1S1	12	56113380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18497	56113380	77738515	12934	20646											
CD63	0	broad.mit.edu	37	chr12	56121030	56121030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgcgatgatgaccactgGcaacagagagccaggggtag	14	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56121030G>A	ENST00000549117.1	-	3	596	c.160C>T	c.(160-162)Cca>Tca	p.P54S	CD63_ENST00000257857.4_Missense_Mutation_p.P54S|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000420846.3_Missense_Mutation_p.P54S|CD63_ENST00000552692.1_Missense_Mutation_p.P54S|CD63_ENST00000552754.1_Missense_Mutation_p.P31S|CD63_ENST00000546939.1_5'UTR	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	54					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ATGACCACTGGCAACAGAGAG	0.577													False	0	False	12:56121030	0	A	56121030	G	A	56121030	3	1	88	1	0	0	0	0	1	0	0	0	3052	1203	42	2	580	2	CD63	12	56121030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7650	56121030	77730865	12935	20647											
ORMDL2	29095	broad.mit.edu	37	chr12	56212807	56212807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtgggggtggcacacagCgaagtaaaccccaacacccg	12	12	0	0	rs139659445	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56212807C>T	ENST00000243045.5	+	2	219	c.24C>T	c.(22-24)agC>agT	p.S8S	RP11-762I7.5_ENST00000546837.1_Intron|ORMDL2_ENST00000548974.1_Silent_p.S8S|RP11-762I7.5_ENST00000552719.1_Intron|ORMDL2_ENST00000552672.1_Intron|ORMDL2_ENST00000550836.1_Intron	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORM1-like 2 (S. cerevisiae)	8				S -> N (in Ref. 6; BAD96900).	ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				kidney(1)|lung(3)	4						TGGCACACAGCGAAGTAAACC	0.527													False	0	False	12:56212807	0	T	56212807	C	T	56212807	2	4	88	1	0	0	0	0	0	0	0	1	11338	767	27	1		1	ORMDL2	12	56212807	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91777	56212807	77639088	12936	20648											
DGKA	1606	broad.mit.edu	37	chr12	56333198	56333198	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcatctactgtgccttcctaGactctgaaggacgacggaca	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56333198G>T	ENST00000331886.5	+	9	1048		c.e9-1		DGKA_ENST00000549079.2_Splice_Site|DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000394147.1_Splice_Site	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGCCTTCCTAGACTCTGAAGG	0.542													False	0	False	12:56333198	0	T	56333198	G	T	56333198	5	4	88	1	0	0	0	0	0	0	1	0	4495	956	33	3	624	3	DGKA	12	56333198	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120391	56333198	77518697	12937	20649											
SUOX	6821	broad.mit.edu	37	chr12	56398461	56398461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtccagtcggccatcAcagagccccgggatggagag	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56398461A>G	ENST00000394109.3	+	3	2012	c.1288A>G	c.(1288-1290)Aca>Gca	p.T430A	SUOX_ENST00000356124.4_Missense_Mutation_p.T430A|SUOX_ENST00000266971.3_Missense_Mutation_p.T430A|SUOX_ENST00000394115.2_Missense_Mutation_p.T430A|SUOX_ENST00000548274.1_Missense_Mutation_p.T430A			P51687	SUOX_HUMAN	sulfite oxidase	430	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GTCGGCCATCACAGAGCCCCG	0.557													False	0	False	12:56398461	0	G	56398461	A	G	56398461	3	3	88	1	0	0	0	0	1	0	0	0	15477	159	6	4	1298	4	SUOX	12	56398461	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65263	56398461	77453434	12938	20650											
IKZF4	64375	broad.mit.edu	37	chr12	56428846	56428846	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagtcctgcctacgccaaaGaggaccccaagccacaggag	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56428846G>T	ENST00000262032.5	+	12	1856	c.1489G>T	c.(1489-1491)Gag>Tag	p.E497*	IKZF4_ENST00000547791.1_Nonsense_Mutation_p.E452*|IKZF4_ENST00000547167.1_Nonsense_Mutation_p.E497*|IKZF4_ENST00000431367.2_Nonsense_Mutation_p.E395*|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	497					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTACGCCAAAGAGGACCCCAA	0.662													False	0	True	12:56428846	0	T	56428846	G	T	56428846	4	4	88	1	0	0	0	0	0	1	0	0	7667	943	33	3	1519	3	IKZF4	12	56428846	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30385	56428846	77423049	12939	20651											
ERBB3	2065	broad.mit.edu	37	chr12	56479013	56479013	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcacccctcagccagcccaaGactggtacctccttgatgat	7	16	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56479013G>T	ENST00000411731.2	+	3	633	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000267101.3_Intron|ERBB3_ENST00000415288.2_Intron	NM_001005915.1	NP_001005915.1	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	0					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCCAGCCCAAGACTGGTACCT	0.577													False	0	False	12:56479013	0	T	56479013	G	T	56479013	3	4	88	1	0	0	0	0	1	0	0	0	5240	942	33	3	479	3	ERBB3	12	56479013	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50167	56479013	77372882	12940	20652											
ERBB3	2065	broad.mit.edu	37	chr12	56489582	56489582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgaggcgatacttggaaCggggtgaggtgagtacttag	16	5	0	3	rs56387488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56489582C>T	ENST00000267101.3	+	17	2487	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	ERBB3_ENST00000450146.2_Missense_Mutation_p.R40W|ERBB3_ENST00000415288.2_Missense_Mutation_p.R624W	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	683			R -> W (in dbSNP:rs56387488).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATACTTGGAACGGGGTGAGGT	0.443													False	0	True	12:56489582	0	T	56489582	C	T	56489582	3	4	88	1	0	0	0	0	1	0	0	0	5240	527	19	1	2244	1	ERBB3	12	56489582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10569	56489582	77362313	12941	20653											
ERBB3	2065	broad.mit.edu	37	chr12	56492614	56492614	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacgattggctgaagtaccaGacctgctagagaagggggag	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56492614G>T	ENST00000267101.3	+	23	3204	c.2764G>T	c.(2764-2766)Gac>Tac	p.D922Y	ERBB3_ENST00000450146.2_Missense_Mutation_p.D279Y|ERBB3_ENST00000549832.1_Missense_Mutation_p.D42Y|ERBB3_ENST00000415288.2_Missense_Mutation_p.D863Y|ERBB3_ENST00000553131.1_Missense_Mutation_p.D163Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	922	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGAAGTACCAGACCTGCTAGA	0.537													False	0	False	12:56492614	0	T	56492614	G	T	56492614	3	4	88	1	0	0	0	0	1	0	0	0	5240	942	33	3	2985	3	ERBB3	12	56492614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3032	56492614	77359281	12942	20654											
PA2G4	5036	broad.mit.edu	37	chr12	56505030	56505030	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatggccccatgcggataacCagtggtcccttcgagcctga	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56505030C>A	ENST00000303305.6	+	11	1421	c.1002C>A	c.(1000-1002)acC>acA	p.T334T	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	334	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGCGGATAACCAGTGGTCCCT	0.443													False	0	False	12:56505030	0	A	56505030	C	A	56505030	2	1	88	1	0	0	0	0	0	0	0	1	11429	581	21	3		3	PA2G4	12	56505030	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12416	56505030	77346865	12943	20655											
ZC3H10	84872	broad.mit.edu	37	chr12	56514521	56514521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggcaagcgttgccgatatCgccacccagacatgagcgag	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56514521C>T	ENST00000257940.2	+	3	451	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	59							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TTGCCGATATCGCCACCCAGA	0.567													False	0	False	12:56514521	0	T	56514521	C	T	56514521	3	4	88	1	0	0	0	0	1	0	0	0	17642	884	31	1	177	1	ZC3H10	12	56514521	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9491	56514521	77337374	12944	20656											
ZC3H10	84872	broad.mit.edu	37	chr12	56515509	56515509	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtctccatggctcctgtggCtgtatctgtggctcctgtgg	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56515509C>A	ENST00000257940.2	+	3	1439	c.1163C>A	c.(1162-1164)gCt>gAt	p.A388D	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	388	Pro-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GCTCCTGTGGCTGTATCTGTG	0.592													False	0	False	12:56515509	0	A	56515509	C	A	56515509	3	1	88	1	0	0	0	0	1	0	0	0	17642	797	28	3	1165	3	ZC3H10	12	56515509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	988	56515509	77336386	12945	20657											
ESYT1	23344	broad.mit.edu	37	chr12	56536096	56536096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagggcactggcgtgctgGgctcattatccctgcccctc	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56536096G>A	ENST00000394048.5	+	25	2884	c.2620G>A	c.(2620-2622)Ggc>Agc	p.G874S	ESYT1_ENST00000267113.4_Missense_Mutation_p.G884S|ESYT1_ENST00000550878.1_Intron|ESYT1_ENST00000541590.1_Missense_Mutation_p.G884S	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	874	C2 4.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGCGTGCTGGGCTCATTATC	0.562													False	0	True	12:56536096	0	A	56536096	G	A	56536096	3	1	88	1	0	0	0	0	1	0	0	0	5296	1232	43	2	2748	2	ESYT1	12	56536096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20587	56536096	77315799	12946	20658											
MYL6	4637	broad.mit.edu	37	chr12	56552389	56552389	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgggtcagagtttgtgGgtcagagtttgtggggctgg	19	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56552389G>T	ENST00000536128.1	+	1	244	c.204G>T	c.(202-204)tgG>tgT	p.W68C	MYL6_ENST00000547408.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.W68C|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000348108.4_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGAGTTTGTGGGTCAGAGTTT	0.567													False	0	True	12:56552389	0	T	56552389	G	T	56552389	3	4	88	1	0	0	0	0	1	0	0	0	10118	1247	43	3		3	MYL6	12	56552389	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16293	56552389	77299506	12947	20659											
SMARCC2	6601	broad.mit.edu	37	chr12	56558134	56558134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttgccctgaacagctgccAcaatggcagggctttgggct	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56558134A>G	ENST00000394023.3	-	29	3440	c.3335T>C	c.(3334-3336)gTg>gCg	p.V1112A	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1205A|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.V1174A	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1079	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACAGCTGCCACAATGGCAGG	0.657													False	0	False	12:56558134	0	G	56558134	A	G	56558134	3	3	88	1	0	0	0	0	1	0	0	0	14856	159	6	4	131	4	SMARCC2	12	56558134	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5745	56558134	77293761	12948	20660											
SMARCC2	6601	broad.mit.edu	37	chr12	56558242	56558242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgtagagggttcgccatgGacacaggcaggttaggtggg	18	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56558242G>A	ENST00000550164.1	-	28	3520	c.3506C>T	c.(3505-3507)tCc>tTc	p.S1169F	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.S1138F			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1138	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTCGCCATGGACACAGGCAG	0.637													False	0	False	12:56558242	0	A	56558242	G	A	56558242	3	1	88	1	0	0	0	0	1	0	0	0	14856	1174	41	2	239	2	SMARCC2	12	56558242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108	56558242	77293653	12949	20661											
SMARCC2	6601	broad.mit.edu	37	chr12	56565170	56565170	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacttttcgaacatgggcCtccaccaaggccgtgggtac	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56565170C>A	ENST00000394023.3	-	22	2337	c.2232G>T	c.(2230-2232)gaG>gaT	p.E744D	SMARCC2_ENST00000347471.4_Missense_Mutation_p.E744D|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E744D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E713D	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	713					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAACATGGGCCTCCACCAAGG	0.552													False	0	False	12:56565170	0	A	56565170	C	A	56565170	3	1	88	1	0	0	0	0	1	0	0	0	14856	680	24	3	1537	3	SMARCC2	12	56565170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6928	56565170	77286725	12950	20662											
ANKRD52	283373	broad.mit.edu	37	chr12	56639194	56639194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcatgggcgagtatcCgctgtaatccaccccggcat	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56639194C>T	ENST00000267116.7	-	21	2492	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	791							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGCGAGTATCCGCTGTAATCC	0.617													False	0	False	12:56639194	0	T	56639194	C	T	56639194	3	4	88	1	0	0	0	0	1	0	0	0	678	661	23	1	891	1	ANKRD52	12	56639194	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74024	56639194	77212701	12951	20663											
ANKRD52	283373	broad.mit.edu	37	chr12	56641840	56641840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgtccacttgcgcttgcGctccttgatgagggcagagg	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56641840G>A	ENST00000267116.7	-	18	2066	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	649							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TTGCGCTTGCGCTCCTTGATG	0.642													False	0	True	12:56641840	0	A	56641840	G	A	56641840	3	1	88	1	0	0	0	0	1	0	0	0	678	1087	38	1	1329	1	ANKRD52	12	56641840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2646	56641840	77210055	12952	20664											
ANKRD52	283373	broad.mit.edu	37	chr12	56647086	56647086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccgggcggtatctgcGccattggtcatgagggtgct	14	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56647086G>A	ENST00000267116.7	-	10	1207	c.1086C>T	c.(1084-1086)ggC>ggT	p.G362G		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	362							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CGGTATCTGCGCCATTGGTCA	0.572													False	0	False	12:56647086	0	A	56647086	G	A	56647086	2	1	88	1	0	0	0	0	0	0	0	1	678	1074	38	1		1	ANKRD52	12	56647086	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5246	56647086	77204809	12953	20665											
ANKRD52	283373	broad.mit.edu	37	chr12	56647941	56647941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacatgcagtggcgtgaaGcccttgtcattcggctggtt	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56647941G>A	ENST00000267116.7	-	8	937	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	272							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTGGCGTGAAGCCCTTGTCAT	0.557													False	0	True	12:56647941	0	A	56647941	G	A	56647941	2	1	88	1	0	0	0	0	0	0	0	1	678	958	34	2		2	ANKRD52	12	56647941	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	855	56647941	77203954	12954	20666											
ANKRD52	283373	broad.mit.edu	37	chr12	56651145	56651145	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggagttcgcctctcttggtCctgggaaggcaaaaaagagc	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56651145C>A	ENST00000267116.7	-	3	233	c.112G>T	c.(112-114)Gac>Tac	p.D38Y		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	38							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CTCTCTTGGTCCTGGGAAGGC	0.587													False	0	False	12:56651145	0	A	56651145	C	A	56651145	5	1	88	1	0	0	0	0	0	0	1	0	678	869	30	3	3222	3	ANKRD52	12	56651145	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3204	56651145	77200750	12955	20667											
PAN2	9924	broad.mit.edu	37	chr12	56712063	56712063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggctcaggcaccttccagtCcatctttctgcccttctcat	6	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56712063C>A	ENST00000425394.2	-	25	3908	c.3532G>T	c.(3532-3534)Gac>Tac	p.D1178Y	PAN2_ENST00000257931.5_Missense_Mutation_p.D1177Y|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000548043.1_Missense_Mutation_p.D1178Y|PAN2_ENST00000440411.3_Missense_Mutation_p.D1174Y	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1178					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACCTTCCAGTCCATCTTTCTG	0.488													False	0	False	12:56712063	0	A	56712063	C	A	56712063	3	1	88	1	0	0	0	0	1	0	0	0	11482	855	30	3	84	3	PAN2	12	56712063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60918	56712063	77139832	12956	20668											
PAN2	9924	broad.mit.edu	37	chr12	56722398	56722398	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatgagtagcgctccaaggCtgggccaaaaaatgaagtgg	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56722398C>A	ENST00000425394.2	-	3	686	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	PAN2_ENST00000257931.5_Missense_Mutation_p.A104S|PAN2_ENST00000548043.1_Missense_Mutation_p.A104S|PAN2_ENST00000440411.3_Missense_Mutation_p.A104S	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	104					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CGCTCCAAGGCTGGGCCAAAA	0.512													False	0	False	12:56722398	0	A	56722398	C	A	56722398	3	1	88	1	0	0	0	0	1	0	0	0	11482	797	28	3	3394	3	PAN2	12	56722398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10335	56722398	77129497	12957	20669											
STAT2	6773	broad.mit.edu	37	chr12	56750351	56750351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagcatttcccactgcGccatttgggctctgcgtcag	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56750351G>A	ENST00000314128.4	-	2	28	c.5C>T	c.(4-6)gCg>gTg	p.A2V	STAT2_ENST00000418572.2_Missense_Mutation_p.A2V|STAT2_ENST00000557235.1_Missense_Mutation_p.A2V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	2					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTCCCACTGCGCCATTTGGGC	0.458													False	0	False	12:56750351	0	A	56750351	G	A	56750351	3	1	88	1	0	0	0	0	1	0	0	0	15347	1087	38	1	2642	1	STAT2	12	56750351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27953	56750351	77101544	12958	20670											
APOF	319	broad.mit.edu	37	chr12	56755257	56755257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccttaatgcaggtttaaGtgcagcactgatcgctagac	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56755257G>A	ENST00000398189.3	-	2	810	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F	APOF_ENST00000541105.1_Missense_Mutation_p.L227F	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	245					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GCAGGTTTAAGTGCAGCACTG	0.527													False	0	False	12:56755257	0	A	56755257	G	A	56755257	3	1	88	1	0	0	0	0	1	0	0	0	805	1029	36	2	251	2	APOF	12	56755257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4906	56755257	77096638	12959	20671											
TIMELESS	8914	broad.mit.edu	37	chr12	56811983	56811983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggccctcagggcttgtgctCggtgctctttacagtgctcc	13	13	2	0	rs145585280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56811983C>T	ENST00000229201.4	-	27	3540	c.3386G>A	c.(3385-3387)cGa>cAa	p.R1129Q	TIMELESS_ENST00000553532.1_Missense_Mutation_p.R1130Q|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R627Q	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1130					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GGCTTGTGCTCGGTGCTCTTT	0.552													False	0	False	12:56811983	0	T	56811983	C	T	56811983	3	4	88	1	0	0	0	0	1	0	0	0	15986	884	31	1	249	1	TIMELESS	12	56811983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56726	56811983	77039912	12960	20672											
TIMELESS	8914	broad.mit.edu	37	chr12	56827200	56827200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacaaggtttcactgaggaCtccaaaagccttctcactgg	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56827200C>A	ENST00000229201.4	-	5	548	c.394G>T	c.(394-396)Gtc>Ttc	p.V132F	TIMELESS_ENST00000553532.1_Missense_Mutation_p.V132F|TIMELESS_ENST00000554616.1_Missense_Mutation_p.V132F	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	132					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCACTGAGGACTCCAAAAGCC	0.512													False	0	False	12:56827200	0	A	56827200	C	A	56827200	3	1	88	1	0	0	0	0	1	0	0	0	15986	565	20	3	3332	3	TIMELESS	12	56827200	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15217	56827200	77024695	12961	20673											
MIP	4284	broad.mit.edu	37	chr12	56848296	56848296	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgcaggggtccaggagcCcagcgcagtgaggaccccag	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56848296C>T	ENST00000257979.4	-	1	130	c.102G>A	c.(100-102)tgG>tgA	p.W34*	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	34					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GTCCAGGAGCCCAGCGCAGTG	0.582													False	0	True	12:56848296	0	T	56848296	C	T	56848296	4	4	88	1	0	0	0	0	0	1	0	0	9658	624	22	2	705	2	MIP	12	56848296	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21096	56848296	77003599	12962	20674											
GLS2	27165	broad.mit.edu	37	chr12	56866494	56866494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgaagagctgagacatcGccactataggcagcaaataa	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56866494G>A	ENST00000311966.4	-	15	1769	c.1491C>T	c.(1489-1491)ggC>ggT	p.G497G		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	497					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGAGACATCGCCACTATAGG	0.423													False	0	False	12:56866494	0	A	56866494	G	A	56866494	2	1	88	1	0	0	0	0	0	0	0	1	6509	1074	38	1		1	GLS2	12	56866494	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18198	56866494	76985401	12963	20675											
BAZ2A	11176	broad.mit.edu	37	chr12	57003607	57003607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggccgacctcgaccccGtttcaccttggggacttcct	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57003607G>A	ENST00000179765.5	-	11	2114	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W	BAZ2A_ENST00000551812.1_Missense_Mutation_p.R671W|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R641W|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R669W			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	671					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCTCGACCCCGTTTCACCTTG	0.522													False	0	True	12:57003607	0	A	57003607	G	A	57003607	3	1	88	1	0	0	0	0	1	0	0	0	1335	1144	40	1	3786	1	BAZ2A	12	57003607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137113	57003607	76848288	12964	20676											
BAZ2A	11176	broad.mit.edu	37	chr12	57005806	57005806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagacaactgtagaagctgCgggacaaacttctggagaga	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57005806C>T	ENST00000179765.5	-	7	1469	c.1270G>A	c.(1270-1272)Gca>Aca	p.A424T	BAZ2A_ENST00000551812.1_Missense_Mutation_p.A456T|BAZ2A_ENST00000379441.3_Missense_Mutation_p.A426T|BAZ2A_ENST00000549884.1_Missense_Mutation_p.A454T			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	456					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	p.A456T(2)|p.A492T(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTAGAAGCTGCGGGACAAACT	0.562													False	0	True	12:57005806	0	T	57005806	C	T	57005806	3	4	88	1	0	0	0	0	1	0	0	0	1335	768	27	1	4447	1	BAZ2A	12	57005806	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2199	57005806	76846089	12965	20677											
ATP5B	506	broad.mit.edu	37	chr12	57032949	57032949	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggtaccagcttccccataTgacctgtgaagacctcagca	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57032949T>C	ENST00000262030.3	-	9	1480	c.1430A>G	c.(1429-1431)cAt>cGt	p.H477R	ATP5B_ENST00000552919.1_Missense_Mutation_p.H466R	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	477					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCCCCATATGACCTGTGAA	0.468													False	0	False	12:57032949	0	C	57032949	T	C	57032949	3	2	88	1	0	0	0	0	1	0	0	0	1152	1464	51	4	167	4	ATP5B	12	57032949	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27143	57032949	76818946	12966	20678											
NACA	4666	broad.mit.edu	37	chr12	57109918	57109918	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggagggagcaagaggcagaGagactggtggggagggtgct	23	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57109918G>T	ENST00000454682.1	-	3	5677	c.5396C>A	c.(5395-5397)tCt>tAt	p.S1799Y	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S646Y|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AAGAGGCAGAGAGACTGGTGG	0.557			T	BCL6	NHL								False	0	True	12:57109918	0	T	57109918	G	T	57109918	3	4	88	1	0	0	0	0	1	0	0	0	10200	942	33	3	868	3	NACA	12	57109918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76969	57109918	76741977	12967	20679											
NACA	4666	broad.mit.edu	37	chr12	57110723	57110723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttttagagagaagagtcgCtgttggggcaatggggtccc	15	7	0	3	rs61937760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57110723C>A	ENST00000454682.1	-	3	4872	c.4591G>T	c.(4591-4593)Gcg>Tcg	p.A1531S	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAAGAGTCGCTGTTGGGGCA	0.582			T	BCL6	NHL								False	0	False	12:57110723	0	A	57110723	C	A	57110723	3	1	88	1	0	0	0	0	1	0	0	0	10200	797	28	3	1673	3	NACA	12	57110723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	805	57110723	76741172	12968	20680											
NACA	4666	broad.mit.edu	37	chr12	57111655	57111655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaggagttgcagctgggGttgtgggggcccctttgggg	22	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57111655G>A	ENST00000454682.1	-	3	3940	c.3659C>T	c.(3658-3660)aCc>aTc	p.T1220I	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGCAGCTGGGGTTGTGGGGGC	0.647			T	BCL6	NHL								False	0	True	12:57111655	0	A	57111655	G	A	57111655	3	1	88	1	0	0	0	0	1	0	0	0	10200	1261	44	2	2605	2	NACA	12	57111655	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	932	57111655	76740240	12969	20681											
NACA	4666	broad.mit.edu	37	chr12	57113606	57113606	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtactttggaaagaaggggAatttttaggggctgcctgga	15	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57113606A>G	ENST00000454682.1	-	3	1989	c.1708T>C	c.(1708-1710)Tcc>Ccc	p.S570P	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S570P|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	41					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AAAGAAGGGGAATTTTTAGGG	0.502			T	BCL6	NHL								False	0	True	12:57113606	0	G	57113606	A	G	57113606	3	3	88	1	0	0	0	0	1	0	0	0	10200	246	9	4	4556	4	NACA	12	57113606	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1951	57113606	76738289	12970	20682											
NACA	4666	broad.mit.edu	37	chr12	57114403	57114403	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgcaagatgagagcccagaGaaatgggaaaatctgggggg	17	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57114403G>T	ENST00000454682.1	-	3	1192	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S304Y|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAGCCCAGAGAAATGGGAAA	0.483			T	BCL6	NHL								False	0	True	12:57114403	0	T	57114403	G	T	57114403	3	4	88	1	0	0	0	0	1	0	0	0	10200	942	33	3	5353	3	NACA	12	57114403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	797	57114403	76737492	12971	20683											
NACA	4666	broad.mit.edu	37	chr12	57115165	57115165	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcactgttgtggggcaggaGagcaaggaggggggagggta	23	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57115165G>T	ENST00000454682.1	-	3	430	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S50Y|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGCAGGAGAGCAAGGAGG	0.562			T	BCL6	NHL								False	0	False	12:57115165	0	T	57115165	G	T	57115165	3	4	88	1	0	0	0	0	1	0	0	0	10200	942	33	3	6115	3	NACA	12	57115165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	762	57115165	76736730	12972	20684											
HSD17B6	8630	broad.mit.edu	37	chr12	57167744	57167744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtatgtctttatcacgggCtgtgactcgggctttgggaa	13	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57167744C>T	ENST00000554643.1	+	3	457	c.108C>T	c.(106-108)ggC>ggT	p.G36G	HSD17B6_ENST00000554150.1_Silent_p.G36G|HSD17B6_ENST00000555805.1_Silent_p.G36G|HSD17B6_ENST00000322165.1_Silent_p.G36G|HSD17B6_ENST00000555159.1_Silent_p.G36G			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	36					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TTATCACGGGCTGTGACTCGG	0.607													False	0	True	12:57167744	0	T	57167744	C	T	57167744	2	4	88	1	0	0	0	0	0	0	0	1	7434	784	28	2		2	HSD17B6	12	57167744	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52579	57167744	76684151	12973	20685											
RDH16	8608	broad.mit.edu	37	chr12	57345960	57345960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcaggcaatcagcgcatgCtccatgcagttggtcaccaa	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57345960C>T	ENST00000398138.3	-	4	1663	c.807G>A	c.(805-807)gaG>gaA	p.E269E	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	269					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TCAGCGCATGCTCCATGCAGT	0.512													False	0	False	12:57345960	0	T	57345960	C	T	57345960	2	4	88	1	0	0	0	0	0	0	0	1	13273	796	28	2		2	RDH16	12	57345960	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178216	57345960	76505935	12974	20686											
RDH16	8608	broad.mit.edu	37	chr12	57351092	57351092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccagcacccgcaagcctCgtgcatccagctgtctggcc	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57351092C>T	ENST00000398138.3	-	1	1011	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	52					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CCGCAAGCCTCGTGCATCCAG	0.602													False	0	False	12:57351092	0	T	57351092	C	T	57351092	3	4	88	1	0	0	0	0	1	0	0	0	13273	884	31	1	814	1	RDH16	12	57351092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5132	57351092	76500803	12975	20687											
GPR182	11318	broad.mit.edu	37	chr12	57389159	57389159	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcaccaagcgcgtggtcCtctttgccctctacctggcc	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389159C>A	ENST00000300098.1	+	2	385	c.166C>A	c.(166-168)Ctc>Atc	p.L56I		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	56						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GCGCGTGGTCCTCTTTGCCCT	0.592													False	0	False	12:57389159	0	A	57389159	C	A	57389159	3	1	88	1	0	0	0	0	1	0	0	0	6723	681	24	3	168	3	GPR182	12	57389159	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38067	57389159	76462736	12976	20688											
GPR182	11318	broad.mit.edu	37	chr12	57389519	57389519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcggcgggccatgtgtgcaGgcatctgggtcctctcggcc	16	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389519G>T	ENST00000300098.1	+	2	745	c.526G>T	c.(526-528)Ggc>Tgc	p.G176C		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	176						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CATGTGTGCAGGCATCTGGGT	0.642													False	0	False	12:57389519	0	T	57389519	G	T	57389519	3	4	88	1	0	0	0	0	1	0	0	0	6723	1000	35	3	528	3	GPR182	12	57389519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	360	57389519	76462376	12977	20689											
GPR182	11318	broad.mit.edu	37	chr12	57389924	57389924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcattgactgcttctccatgCtgcactgtgtcatcaacccc	6	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389924C>T	ENST00000300098.1	+	2	1150	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTTCTCCATGCTGCACTGTGT	0.542													False	0	False	12:57389924	0	T	57389924	C	T	57389924	2	4	88	1	0	0	0	0	0	0	0	1	6723	796	28	2		2	GPR182	12	57389924	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	405	57389924	76461971	12978	20690											
ZBTB39	9880	broad.mit.edu	37	chr12	57396934	57396934	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcgccagctcttcacccaGaaactcctctgctggcagct	8	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57396934G>T	ENST00000300101.2	-	2	1853	c.1768C>A	c.(1768-1770)Ctg>Atg	p.L590M		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TCTTCACCCAGAAACTCCTCT	0.562													False	0	True	12:57396934	0	T	57396934	G	T	57396934	3	4	88	1	0	0	0	0	1	0	0	0	17623	933	33	3	374	3	ZBTB39	12	57396934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7010	57396934	76454961	12979	20691											
ZBTB39	9880	broad.mit.edu	37	chr12	57397488	57397488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtaaagaacttagtttcaCacatgtcgcaggagaaaagg	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57397488C>T	ENST00000300101.2	-	2	1299	c.1214G>A	c.(1213-1215)tGt>tAt	p.C405Y		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CTTAGTTTCACACATGTCGCA	0.522													False	0	True	12:57397488	0	T	57397488	C	T	57397488	3	4	88	1	0	0	0	0	1	0	0	0	17623	478	17	2	928	2	ZBTB39	12	57397488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	554	57397488	76454407	12980	20692											
ZBTB39	9880	broad.mit.edu	37	chr12	57397725	57397725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaagccaactcatcctcaCtgtcatcactcagctcaatc	3	16	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57397725C>A	ENST00000300101.2	-	2	1062	c.977G>T	c.(976-978)aGt>aTt	p.S326I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CTCATCCTCACTGTCATCACT	0.507													False	0	False	12:57397725	0	A	57397725	C	A	57397725	3	1	88	1	0	0	0	0	1	0	0	0	17623	565	20	3	1165	3	ZBTB39	12	57397725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	237	57397725	76454170	12981	20693											
MYO1A	4640	broad.mit.edu	37	chr12	57431699	57431699	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctccggctcagcaatcGgtacctttccaggaagggcc	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57431699G>A	ENST00000442789.2	-	19	2202	c.1915C>T	c.(1915-1917)Cga>Tga	p.R639*	MYO1A_ENST00000544473.1_Nonsense_Mutation_p.R477*|MYO1A_ENST00000300119.3_Nonsense_Mutation_p.R639*	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	639	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCAGCAATCGGTACCTTTCC	0.627													False	0	False	12:57431699	0	A	57431699	G	A	57431699	4	1	88	1	0	0	0	0	0	1	0	0	10135	1124	39	1	1260	1	MYO1A	12	57431699	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33974	57431699	76420196	12982	20694											
MYO1A	4640	broad.mit.edu	37	chr12	57432600	57432600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccatttcaccttgcccGcatagtggcagatgcggaag	11	13	1	1	rs141039063		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57432600G>A	ENST00000442789.2	-	17	1813	c.1526C>T	c.(1525-1527)gCg>gTg	p.A509V	MYO1A_ENST00000544473.1_Missense_Mutation_p.A347V|MYO1A_ENST00000300119.3_Missense_Mutation_p.A509V|MYO1A_ENST00000476795.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	509	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CACCTTGCCCGCATAGTGGCA	0.577													False	0	True	12:57432600	0	A	57432600	G	A	57432600	3	1	88	1	0	0	0	0	1	0	0	0	10135	1087	38	1	1657	1	MYO1A	12	57432600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	901	57432600	76419295	12983	20695											
TMEM194A	23306	broad.mit.edu	37	chr12	57453749	57453749	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttcctcatagatttcatcCtgggcaataatgctccctaa	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57453749C>A	ENST00000300128.4	-	9	1271	c.1248G>T	c.(1246-1248)caG>caT	p.Q416H	TMEM194A_ENST00000379391.3_Missense_Mutation_p.Q343H	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	416						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGATTTCATCCTGGGCAATAA	0.463													False	0	False	12:57453749	0	A	57453749	C	A	57453749	3	1	88	1	0	0	0	0	1	0	0	0	16198	680	24	3	90	3	TMEM194A	12	57453749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21149	57453749	76398146	12984	20696											
NAB2	4665	broad.mit.edu	37	chr12	57487215	57487215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcatgtccaaggctgacGccgccccctgctgacctgcc	12	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57487215G>A	ENST00000300131.3	+	6	1680	c.1302G>A	c.(1300-1302)acG>acA	p.T434T	NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Intron	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	434					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAAGGCTGACGCCGCCCCCTG	0.652													False	0	False	12:57487215	0	A	57487215	G	A	57487215	2	1	88	1	0	0	0	0	0	0	0	1	10199	1074	38	1		1	NAB2	12	57487215	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33466	57487215	76364680	12985	20697											
STAT6	6778	broad.mit.edu	37	chr12	57492642	57492642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaggtcataagaaggcaCcatggtaggcatctggagct	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57492642C>T	ENST00000300134.3	-	18	2324	c.1999G>A	c.(1999-2001)Gtg>Atg	p.V667M	STAT6_ENST00000454075.3_Missense_Mutation_p.V667M|STAT6_ENST00000543873.2_Missense_Mutation_p.V667M|STAT6_ENST00000537215.2_Missense_Mutation_p.V557M|STAT6_ENST00000556155.1_Missense_Mutation_p.V667M|STAT6_ENST00000538913.2_Missense_Mutation_p.V557M	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	667					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TAAGAAGGCACCATGGTAGGC	0.552													False	0	False	12:57492642	0	T	57492642	C	T	57492642	3	4	88	1	0	0	0	0	1	0	0	0	15352	507	18	2	564	2	STAT6	12	57492642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5427	57492642	76359253	12986	20698											
STAT6	6778	broad.mit.edu	37	chr12	57493091	57493091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcacgcttgtagtggctcCggaaagcctcatccttgggc	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57493091C>T	ENST00000300134.3	-	16	2202	c.1877G>A	c.(1876-1878)cGg>cAg	p.R626Q	STAT6_ENST00000454075.3_Missense_Mutation_p.R626Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R626Q|STAT6_ENST00000537215.2_Missense_Mutation_p.R516Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R626Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R516Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	626	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GTAGTGGCTCCGGAAAGCCTC	0.587													False	0	False	12:57493091	0	T	57493091	C	T	57493091	3	4	88	1	0	0	0	0	1	0	0	0	15352	652	23	1	694	1	STAT6	12	57493091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	449	57493091	76358804	12987	20699											
STAT6	6778	broad.mit.edu	37	chr12	57499063	57499063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacaggaatcgaactccaGcctggaacttggtctgagtc	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499063G>A	ENST00000300134.3	-	9	1197	c.872C>T	c.(871-873)gCt>gTt	p.A291V	STAT6_ENST00000454075.3_Missense_Mutation_p.A291V|STAT6_ENST00000543873.2_Missense_Mutation_p.A291V|STAT6_ENST00000537215.2_Missense_Mutation_p.A181V|STAT6_ENST00000556155.1_Missense_Mutation_p.A291V|STAT6_ENST00000538913.2_Missense_Mutation_p.A181V	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	291					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCGAACTCCAGCCTGGAACTT	0.627													False	0	False	12:57499063	0	A	57499063	G	A	57499063	3	1	88	1	0	0	0	0	1	0	0	0	15352	971	34	2	1727	2	STAT6	12	57499063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5972	57499063	76352832	12988	20700											
STAT6	6778	broad.mit.edu	37	chr12	57499295	57499295	+	Silent	SNP	C	C	T													tcatccagccggccagtcagCgatgcccgggtcttgggctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499295C>T	ENST00000300134.3	-	8	1093	c.768G>A	c.(766-768)tcG>tcA	p.S256S	STAT6_ENST00000454075.3_Silent_p.S256S|STAT6_ENST00000543873.2_Silent_p.S256S|STAT6_ENST00000537215.2_Silent_p.S146S|STAT6_ENST00000556155.1_Silent_p.S256S|STAT6_ENST00000538913.2_Silent_p.S146S	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	256					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCCAGTCAGCGATGCCCGGG	0.612													False	0	False	12:57499295	0	T	57499295	C	T	57499295	2	4	88	1	0	0	0	0	0	0	0	1	15352	755	27	1		1	STAT6	12	57499295	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232	57499295	76352600	12989	20701	231	2									
STAT6	6778	broad.mit.edu	37	chr12	57499303	57499303	+	Missense_Mutation	SNP	G	G	A													ccggccagtcagcgatgcccGggtcttgggctcaagctccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499303G>A	ENST00000300134.3	-	8	1085	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	STAT6_ENST00000454075.3_Missense_Mutation_p.R254W|STAT6_ENST00000543873.2_Missense_Mutation_p.R254W|STAT6_ENST00000537215.2_Missense_Mutation_p.R144W|STAT6_ENST00000556155.1_Missense_Mutation_p.R254W|STAT6_ENST00000538913.2_Missense_Mutation_p.R144W	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	254					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AGCGATGCCCGGGTCTTGGGC	0.617													False	0	True	12:57499303	0	A	57499303	G	A	57499303	3	1	88	1	0	0	0	0	1	0	0	0	15352	1115	39	1	1843	1	STAT6	12	57499303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	57499303	76352592	12990	20702	231	2									
LRP1	4035	broad.mit.edu	37	chr12	57539109	57539109	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctaccatcacacctacgaGcacgcggcagaccacagcca	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57539109G>T	ENST00000243077.3	+	6	1143	c.677G>T	c.(676-678)aGc>aTc	p.S226I	RP11-545N8.3_ENST00000555461.1_RNA|LRP1_ENST00000553277.1_Missense_Mutation_p.S226I|LRP1_ENST00000338962.4_Missense_Mutation_p.S226I|LRP1_ENST00000554174.1_Missense_Mutation_p.S226I	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	226					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACCTACGAGCACGCGGCAG	0.597													False	0	False	12:57539109	0	T	57539109	G	T	57539109	3	4	88	1	0	0	0	0	1	0	0	0	9013	971	34	3	699	3	LRP1	12	57539109	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39806	57539109	76312786	12991	20703											
LRP1	4035	broad.mit.edu	37	chr12	57559588	57559588	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatcctgtggtgcccacagCgaacccatcctacgtgcctc	9	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57559588C>T	ENST00000243077.3	+	16	2997	c.2531C>T	c.(2530-2532)gCg>gTg	p.A844V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	844					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGCCCACAGCGAACCCATCC	0.552													False	0	False	12:57559588	0	T	57559588	C	T	57559588	5	4	88	1	0	0	0	0	0	0	1	0	9013	782	27	1	2593	1	LRP1	12	57559588	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20479	57559588	76292307	12992	20704											
LRP1	4035	broad.mit.edu	37	chr12	57577289	57577289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcggcatcgacttccaCgctggtgagccatttggtgg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57577289C>T	ENST00000243077.3	+	35	6256	c.5790C>T	c.(5788-5790)caC>caT	p.H1930H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1930					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCGACTTCCACGCTGGTGAGC	0.602													False	0	False	12:57577289	0	T	57577289	C	T	57577289	2	4	88	1	0	0	0	0	0	0	0	1	9013	535	19	1		1	LRP1	12	57577289	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17701	57577289	76274606	12993	20705											
LRP1	4035	broad.mit.edu	37	chr12	57577893	57577893	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctactggacagaccagggCtttgatgtcatcgaggtcgc	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57577893C>A	ENST00000243077.3	+	37	6421	c.5955C>A	c.(5953-5955)ggC>ggA	p.G1985G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1985					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGACCAGGGCTTTGATGTCA	0.612													False	0	True	12:57577893	0	A	57577893	C	A	57577893	2	1	88	1	0	0	0	0	0	0	0	1	9013	784	28	3		3	LRP1	12	57577893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	604	57577893	76274002	12994	20706											
LRP1	4035	broad.mit.edu	37	chr12	57578941	57578941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctgcgaaccggcatcgGcgtccagcttaaagacatca	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57578941G>A	ENST00000243077.3	+	40	6882	c.6416G>A	c.(6415-6417)gGc>gAc	p.G2139D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2139					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCGGCATCGGCGTCCAGCTT	0.617													False	0	False	12:57578941	0	A	57578941	G	A	57578941	3	1	88	1	0	0	0	0	1	0	0	0	9013	1203	42	2	6574	2	LRP1	12	57578941	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1048	57578941	76272954	12995	20707											
LRP1	4035	broad.mit.edu	37	chr12	57587035	57587035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaacttcagcctgacctgCgacggcgtcccccactgcaa	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587035C>T	ENST00000243077.3	+	46	8098	c.7632C>T	c.(7630-7632)tgC>tgT	p.C2544C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2544	LDL-receptor class A 11.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCTGACCTGCGACGGCGTCC	0.612													False	0	False	12:57587035	0	T	57587035	C	T	57587035	2	4	88	1	0	0	0	0	0	0	0	1	9013	776	27	1		1	LRP1	12	57587035	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8094	57587035	76264860	12996	20708											
LRP1	4035	broad.mit.edu	37	chr12	57587393	57587393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggcagtgcagcaatgggCgctgtgtgtccaacatgctg	14	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587393C>T	ENST00000243077.3	+	47	8195	c.7729C>T	c.(7729-7731)Cgc>Tgc	p.R2577C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2577	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCAATGGGCGCTGTGTGTC	0.607													False	0	True	12:57587393	0	T	57587393	C	T	57587393	3	4	88	1	0	0	0	0	1	0	0	0	9013	768	27	1	7915	1	LRP1	12	57587393	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	358	57587393	76264502	12997	20709											
LRP1	4035	broad.mit.edu	37	chr12	57587714	57587714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgggcgagttccgctgcCgggacgggacctgcatcggg	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587714C>T	ENST00000243077.3	+	48	8303	c.7837C>T	c.(7837-7839)Cgg>Tgg	p.R2613W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2613	LDL-receptor class A 13.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTTCCGCTGCCGGGACGGGAC	0.607													False	0	True	12:57587714	0	T	57587714	C	T	57587714	3	4	88	1	0	0	0	0	1	0	0	0	9013	643	23	1	8027	1	LRP1	12	57587714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	321	57587714	76264181	12998	20710											
LRP1	4035	broad.mit.edu	37	chr12	57588276	57588276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggactacagtgatgagcgCgactgcccaggtgggcgggg	20	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57588276C>T	ENST00000243077.3	+	49	8524	c.8058C>T	c.(8056-8058)cgC>cgT	p.R2686R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2686	LDL-receptor class A 14.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGATGAGCGCGACTGCCCAG	0.677													False	0	False	12:57588276	0	T	57588276	C	T	57588276	2	4	88	1	0	0	0	0	0	0	0	1	9013	755	27	1		1	LRP1	12	57588276	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	562	57588276	76263619	12999	20711											
LRP1	4035	broad.mit.edu	37	chr12	57590814	57590814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgacggccggacgtgtgCtgatgtggacgagtgcagca	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57590814C>T	ENST00000243077.3	+	56	9408	c.8942C>T	c.(8941-8943)gCt>gTt	p.A2981V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2981	EGF-like 11.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGACGTGTGCTGATGTGGAC	0.652													False	0	False	12:57590814	0	T	57590814	C	T	57590814	3	4	88	1	0	0	0	0	1	0	0	0	9013	797	28	2	9164	2	LRP1	12	57590814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2538	57590814	76261081	13000	20712											
LRP1	4035	broad.mit.edu	37	chr12	57598459	57598459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgttgcaagaatgaccgCgtctgtctgtggatcgggcg	14	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57598459C>T	ENST00000243077.3	+	72	11587	c.11121C>T	c.(11119-11121)cgC>cgT	p.R3707R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3707	LDL-receptor class A 30.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGAATGACCGCGTCTGTCTGT	0.632													False	0	True	12:57598459	0	T	57598459	C	T	57598459	2	4	88	1	0	0	0	0	0	0	0	1	9013	755	27	1		1	LRP1	12	57598459	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7645	57598459	76253436	13001	20713											
LRP1	4035	broad.mit.edu	37	chr12	57606279	57606279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actccctggccagcacggacGagaagcgagaactcctgggc	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57606279G>A	ENST00000243077.3	+	89	14042	c.13576G>A	c.(13576-13578)Gag>Aag	p.E4526K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4526	Interaction with MAFB (By similarity).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCACGGACGAGAAGCGAGA	0.667													False	0	False	12:57606279	0	A	57606279	G	A	57606279	3	1	88	1	0	0	0	0	1	0	0	0	9013	1059	37	1	13930	1	LRP1	12	57606279	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7820	57606279	76245616	13002	20714											
SHMT2	6472	broad.mit.edu	37	chr12	57625629	57625629	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtccccagccaacctgGccgtctacacagcccttctg	9	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57625629G>A	ENST00000393827.4	+	3	385	c.129G>A	c.(127-129)tgG>tgA	p.W43*	SHMT2_ENST00000328923.3_Missense_Mutation_p.A149T|SHMT2_ENST00000557487.1_Missense_Mutation_p.A149T|SHMT2_ENST00000449049.3_Missense_Mutation_p.A128T|SHMT2_ENST00000553474.1_Missense_Mutation_p.A128T|SHMT2_ENST00000414700.3_Missense_Mutation_p.A128T|SHMT2_ENST00000554600.1_3'UTR			P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	0						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGCCAACCTGGCCGTCTACAC	0.637													False	0	False	12:57625629	0	A	57625629	G	A	57625629	4	1	88	1	0	0	0	0	0	1	0	0	14367	1203	42	2	459	2	SHMT2	12	57625629	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19350	57625629	76226266	13003	20715											
SHMT2	6472	broad.mit.edu	37	chr12	57626282	57626282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagctggcactgactgctcGacttttccggccacggctca	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626282G>A	ENST00000328923.3	+	6	1093	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	SHMT2_ENST00000393827.4_Missense_Mutation_p.R118Q|SHMT2_ENST00000557487.1_Missense_Mutation_p.R204Q|SHMT2_ENST00000449049.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000553474.1_Missense_Mutation_p.R193Q|SHMT2_ENST00000414700.3_Missense_Mutation_p.R193Q|SHMT2_ENST00000554600.1_3'UTR	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	214						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGACTGCTCGACTTTTCCGG	0.582													False	0	False	12:57626282	0	A	57626282	G	A	57626282	3	1	88	1	0	0	0	0	1	0	0	0	14367	1058	37	1	663	1	SHMT2	12	57626282	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	653	57626282	76225613	13004	20716											
SHMT2	6472	broad.mit.edu	37	chr12	57626358	57626358	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgcccgcatgagagaGgttggtggggggggctggag	21	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626358G>T	ENST00000328923.3	+	6	1169	c.717G>T	c.(715-717)gaG>gaT	p.E239D	SHMT2_ENST00000393827.4_Splice_Site_p.E143D|SHMT2_ENST00000557487.1_Splice_Site_p.E229D|SHMT2_ENST00000449049.3_Splice_Site_p.E218D|SHMT2_ENST00000553474.1_Splice_Site_p.E218D|SHMT2_ENST00000414700.3_Splice_Site_p.E218D	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	239						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCATGAGAGAGGTTGGTGGGG	0.667													False	0	True	12:57626358	0	T	57626358	G	T	57626358	5	4	88	1	0	0	0	0	0	0	1	0	14367	1014	35	3	739	3	SHMT2	12	57626358	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	57626358	76225537	13005	20717											
INHBC	3626	broad.mit.edu	37	chr12	57843728	57843728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcgccccctgtctctgCtctattatgacagggacagc	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57843728C>T	ENST00000309668.2	+	2	1109	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	328					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTGTCTCTGCTCTATTATGA	0.562													False	0	False	12:57843728	0	T	57843728	C	T	57843728	3	4	88	1	0	0	0	0	1	0	0	0	7793	797	28	2	988	2	INHBC	12	57843728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217370	57843728	76008167	13006	20718											
GLI1	2735	broad.mit.edu	37	chr12	57859671	57859671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgccgttgggatggctGcagccaggaatttgactccc	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57859671G>A	ENST00000228682.2	+	7	816	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	GLI1_ENST00000543426.1_Missense_Mutation_p.C114Y|GLI1_ENST00000546141.1_Missense_Mutation_p.C201Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	242					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGGATGGCTGCAGCCAGGAA	0.567													False	0	False	12:57859671	0	A	57859671	G	A	57859671	3	1	88	1	0	0	0	0	1	0	0	0	6482	1319	46	2	747	2	GLI1	12	57859671	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15943	57859671	75992224	13007	20719											
GLI1	2735	broad.mit.edu	37	chr12	57860099	57860099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctgctccagggagctgaGgcccttcaaagcccagtaca	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57860099G>T	ENST00000228682.2	+	8	930	c.839G>T	c.(838-840)aGg>aTg	p.R280M	GLI1_ENST00000543426.1_Missense_Mutation_p.R152M|GLI1_ENST00000546141.1_Missense_Mutation_p.R239M	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	280					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGGGAGCTGAGGCCCTTCAAA	0.602													False	0	False	12:57860099	0	T	57860099	G	T	57860099	3	4	88	1	0	0	0	0	1	0	0	0	6482	1000	35	3	865	3	GLI1	12	57860099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	428	57860099	75991796	13008	20720											
GLI1	2735	broad.mit.edu	37	chr12	57864247	57864247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccaccagagaatggagCatcctccctgcctggcctta	8	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57864247C>T	ENST00000228682.2	+	12	1815	c.1724C>T	c.(1723-1725)gCa>gTa	p.A575V	GLI1_ENST00000543426.1_Missense_Mutation_p.A447V|GLI1_ENST00000546141.1_Missense_Mutation_p.A534V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	575					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GAGAATGGAGCATCCTCCCTG	0.632													False	0	False	12:57864247	0	T	57864247	C	T	57864247	3	4	88	1	0	0	0	0	1	0	0	0	6482	710	25	2	1766	2	GLI1	12	57864247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4148	57864247	75987648	13009	20721											
GLI1	2735	broad.mit.edu	37	chr12	57864506	57864506	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaggttcaagagcctgggCtgtgtccataccccacccac	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57864506C>A	ENST00000228682.2	+	12	2074	c.1983C>A	c.(1981-1983)ggC>ggA	p.G661G	GLI1_ENST00000543426.1_Silent_p.G533G|GLI1_ENST00000546141.1_Silent_p.G620G	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	661					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGAGCCTGGGCTGTGTCCATA	0.607													False	0	True	12:57864506	0	A	57864506	C	A	57864506	2	1	88	1	0	0	0	0	0	0	0	1	6482	784	28	3		3	GLI1	12	57864506	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	259	57864506	75987389	13010	20722											
ARHGAP9	64333	broad.mit.edu	37	chr12	57873102	57873102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtataagtaaaggcatagaGggcacagagctgggatcccc	13	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57873102G>A	ENST00000393797.2	-	5	493	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L30F|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.L30F|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L109F|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L30F			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	30					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAGGCATAGAGGGCACAGAGC	0.592													False	0	True	12:57873102	0	A	57873102	G	A	57873102	3	1	88	1	0	0	0	0	1	0	0	0	891	1000	35	2	2175	2	ARHGAP9	12	57873102	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8596	57873102	75978793	13011	20723											
KIF5A	3798	broad.mit.edu	37	chr12	57968967	57968967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtggtcaagcggtgccGgcagctggagaacctccagg	16	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57968967G>A	ENST00000455537.2	+	16	2091	c.1817G>A	c.(1816-1818)cGg>cAg	p.R606Q	KIF5A_ENST00000286452.5_Missense_Mutation_p.R517Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	606					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAGCGGTGCCGGCAGCTGGAG	0.572													False	0	False	12:57968967	0	A	57968967	G	A	57968967	3	1	88	1	0	0	0	0	1	0	0	0	8355	1116	39	1	1879	1	KIF5A	12	57968967	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95865	57968967	75882928	13012	20724											
KIF5A	3798	broad.mit.edu	37	chr12	57969516	57969516	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctatgactccttgagcgatGagctggccaagctccaggcc	11	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57969516G>A	ENST00000455537.2	+	17	2273	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E578K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	667					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTTGAGCGATGAGCTGGCCAA	0.527													False	0	False	12:57969516	0	A	57969516	G	A	57969516	3	1	88	1	0	0	0	0	1	0	0	0	8355	1291	45	2	2065	2	KIF5A	12	57969516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	549	57969516	75882379	13013	20725											
PIP4K2C	79837	broad.mit.edu	37	chr12	57994625	57994625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgaagatcatggactacaGccttctgctaggcatccacg	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57994625G>T	ENST00000354947.5	+	8	861	c.845G>T	c.(844-846)aGc>aTc	p.S282I	PIP4K2C_ENST00000540759.2_Missense_Mutation_p.S282I|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.S264I|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.S234I			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	282	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ATGGACTACAGCCTTCTGCTA	0.552													False	0	False	12:57994625	0	T	57994625	G	T	57994625	3	4	88	1	0	0	0	0	1	0	0	0	12007	971	34	3	875	3	PIP4K2C	12	57994625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25109	57994625	75857270	13014	20726											
B4GALNT1	2583	broad.mit.edu	37	chr12	58021501	58021501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccgtcggtgaccacgcaGcctgggaagccgacgagctc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58021501G>A	ENST00000341156.4	-	10	1868	c.1284C>T	c.(1282-1284)ggC>ggT	p.G428G	B4GALNT1_ENST00000418555.2_Silent_p.G373G	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	428					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGACCACGCAGCCTGGGAAGC	0.687													False	0	False	12:58021501	0	A	58021501	G	A	58021501	2	1	88	1	0	0	0	0	0	0	0	1	1270	958	34	2		2	B4GALNT1	12	58021501	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26876	58021501	75830394	13015	20727											
B4GALNT1	2583	broad.mit.edu	37	chr12	58022910	58022910	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atagtgaaagcagcctcatgTccctcggtggagaaccggac	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58022910T>G	ENST00000341156.4	-	7	1316	c.732A>C	c.(730-732)ggA>ggC	p.G244G	B4GALNT1_ENST00000418555.2_Silent_p.G189G|B4GALNT1_ENST00000449184.3_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	244					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CAGCCTCATGTCCCTCGGTGG	0.552													False	0	True	12:58022910	0	G	58022910	T	G	58022910	2	3	88	1	0	0	0	0	0	0	0	1	1270	1654	58	4		4	B4GALNT1	12	58022910	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1409	58022910	75828985	13016	20728											
AGAP2	116986	broad.mit.edu	37	chr12	58126674	58126674	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcccataggttgcacaagtCtcatagtagctgcagcgttt	10	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58126674C>T	ENST00000257897.3	-	6	715	c.630G>A	c.(628-630)gaG>gaA	p.E210E	AGAP2_ENST00000547588.1_Silent_p.E546E	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	546	Interactions with HOMER1 and NF2 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TTGCACAAGTCTCATAGTAGC	0.577													False	0	False	12:58126674	0	T	58126674	C	T	58126674	2	4	88	1	0	0	0	0	0	0	0	1	368	912	32	2		2	AGAP2	12	58126674	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103764	58126674	75725221	13017	20729											
CDK4	1019	broad.mit.edu	37	chr12	58144864	58144864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcctcttagaaactggcGcatcagatcctagtttcaaa	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58144864G>A	ENST00000257904.6	-	4	729	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_Missense_Mutation_p.R2C|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000312990.6_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	122	Protein kinase.		R -> H (in dbSNP:rs34386532).		cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AGAAACTGGCGCATCAGATCC	0.473			Mis			melanoma			Hereditary Melanoma				False	0	False	12:58144864	0	A	58144864	G	A	58144864	3	1	88	1	0	0	0	0	1	0	0	0	3164	1087	38	1	567	1	CDK4	12	58144864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18190	58144864	75707031	13018	20730											
CDK4	1019	broad.mit.edu	37	chr12	58145073	58145073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctacatgctcaaacaccaGggttaccttgatctcccggt	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58145073G>T	ENST00000257904.6	-	3	636	c.271C>A	c.(271-273)Ctg>Atg	p.L91M	CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000312990.6_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	91	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TCAAACACCAGGGTTACCTTG	0.532			Mis			melanoma			Hereditary Melanoma				False	0	True	12:58145073	0	T	58145073	G	T	58145073	3	4	88	1	0	0	0	0	1	0	0	0	3164	991	35	3	664	3	CDK4	12	58145073	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209	58145073	75706822	13019	20731											
MARCH9	92979	broad.mit.edu	37	chr12	58151910	58151910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcaggccatctccctgaCggtcatcgagaaggtccaga	13	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58151910C>T	ENST00000266643.5	+	3	964	c.533C>T	c.(532-534)aCg>aTg	p.T178M	MARCH9_ENST00000548358.1_Missense_Mutation_p.T65M	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	178						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ATCTCCCTGACGGTCATCGAG	0.597													False	0	False	12:58151910	0	T	58151910	C	T	58151910	3	4	88	1	0	0	0	0	1	0	0	0	9375	536	19	1	543	1	MARCH9	12	58151910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6837	58151910	75699985	13020	20732											
AVIL	10677	broad.mit.edu	37	chr12	58197168	58197168	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggacatctaggatttcctgCtgaagtctgcaatatagtcc	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58197168C>A	ENST00000537081.1	-	15	1802	c.1803G>T	c.(1801-1803)caG>caT	p.Q601H	AVIL_ENST00000257861.3_Missense_Mutation_p.Q608H|AVIL_ENST00000550083.1_5'UTR|TSFM_ENST00000548851.1_Intron			O75366	AVIL_HUMAN	advillin	608	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGATTTCCTGCTGAAGTCTGC	0.438											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:58197168	0	A	58197168	C	A	58197168	3	1	88	1	0	0	0	0	1	0	0	0	1231	796	28	3	655	3	AVIL	12	58197168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45258	58197168	75654727	13021	20733											
AVIL	10677	broad.mit.edu	37	chr12	58200264	58200264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagatttgtcatttccatgaAtttggaagagtcttactgga	9	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58200264A>G	ENST00000537081.1	-	13	1528	c.1529T>C	c.(1528-1530)aTt>aCt	p.I510T	AVIL_ENST00000257861.3_Missense_Mutation_p.I517T|AVIL_ENST00000550083.1_5'UTR|TSFM_ENST00000548851.1_Intron			O75366	AVIL_HUMAN	advillin	517	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ATTTCCATGAATTTGGAAGAG	0.488													False	0	True	12:58200264	0	G	58200264	A	G	58200264	3	3	88	1	0	0	0	0	1	0	0	0	1231	101	4	4	937	4	AVIL	12	58200264	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3096	58200264	75651631	13022	20734											
AVIL	10677	broad.mit.edu	37	chr12	58203397	58203397	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taccagcgctttagacatggCtgcctgtttttcagcctttg	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58203397C>A	ENST00000537081.1	-	8	900	c.901G>T	c.(901-903)Gcc>Tcc	p.A301S	AVIL_ENST00000257861.3_Missense_Mutation_p.A308S			O75366	AVIL_HUMAN	advillin	308	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TTAGACATGGCTGCCTGTTTT	0.473													False	0	False	12:58203397	0	A	58203397	C	A	58203397	3	1	88	1	0	0	0	0	1	0	0	0	1231	797	28	3	1585	3	AVIL	12	58203397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3133	58203397	75648498	13023	20735											
CTDSP2	10106	broad.mit.edu	37	chr12	58223343	58223343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggccttgaagatgttacgtCcacgaggcttcttaggagag	14	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58223343C>T	ENST00000398073.2	-	2	404	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CTDSP2_ENST00000548823.1_Missense_Mutation_p.G34E|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	34					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GATGTTACGTCCACGAGGCTT	0.517													False	0	False	12:58223343	0	T	58223343	C	T	58223343	3	4	88	1	0	0	0	0	1	0	0	0	4029	855	30	2	742	2	CTDSP2	12	58223343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19946	58223343	75628552	13024	20736											
XRCC6BP1	91419	broad.mit.edu	37	chr12	58335665	58335665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaggctcctgaagacgctgGagacaagtaggagccatgac	13	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58335665G>A	ENST00000300145.3	+	1	306	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	61					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GAAGACGCTGGAGACAAGTAG	0.617													False	0	False	12:58335665	0	A	58335665	G	A	58335665	3	1	88	1	0	0	0	0	1	0	0	0	17542	1175	41	2	183	2	XRCC6BP1	12	58335665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112322	58335665	75516230	13025	20737											
LRIG3	121227	broad.mit.edu	37	chr12	59277343	59277343	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaaatgcattgccttgTaaagacatgattgcgttgtc	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59277343T>C	ENST00000320743.3	-	11	1561	c.1275A>G	c.(1273-1275)ttA>ttG	p.L425L	LRIG3_ENST00000379141.4_Silent_p.L365L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	425						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATTGCCTTGTAAAGACATGA	0.383			T	ROS1	NSCLC								False	0	True	12:59277343	0	C	59277343	T	C	59277343	2	2	88	1	0	0	0	0	0	0	0	1	9008	1635	57	4		4	LRIG3	12	59277343	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	941678	59277343	74574552	13026	20738											
LRIG3	121227	broad.mit.edu	37	chr12	59283900	59283900	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacccaggttccattgatgtGactcggttgctgttgagata	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59283900G>A	ENST00000320743.3	-	5	823	c.537C>T	c.(535-537)gtC>gtT	p.V179V	LRIG3_ENST00000379141.4_Silent_p.V119V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	179						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCATTGATGTGACTCGGTTGC	0.413			T	ROS1	NSCLC								False	0	False	12:59283900	0	A	59283900	G	A	59283900	2	1	88	1	0	0	0	0	0	0	0	1	9008	1277	45	2		2	LRIG3	12	59283900	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6557	59283900	74567995	13027	20739											
LRIG3	121227	broad.mit.edu	37	chr12	59284508	59284508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatattgttgctgctaaGgtccaaagtttcaagggact	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59284508G>A	ENST00000320743.3	-	4	740	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	LRIG3_ENST00000379141.4_Missense_Mutation_p.L92F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	152						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTGCTGCTAAGGTCCAAAGTT	0.383			T	ROS1	NSCLC								False	0	False	12:59284508	0	A	59284508	G	A	59284508	3	1	88	1	0	0	0	0	1	0	0	0	9008	1000	35	2	2969	2	LRIG3	12	59284508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	608	59284508	74567387	13028	20740											
SLC16A7	9194	broad.mit.edu	37	chr12	60169243	60169243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggcccagttcttcttggCcctcctcttgcaggtaagaa	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:60169243C>T	ENST00000261187.4	+	4	1331	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G	SLC16A7_ENST00000552432.1_Silent_p.G389G|SLC16A7_ENST00000547379.1_Silent_p.G389G|SLC16A7_ENST00000552024.1_Silent_p.G389G|SLC16A7_ENST00000543448.1_Silent_p.G290G	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	389						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TTCTTCTTGGCCCTCCTCTTG	0.413													False	0	True	12:60169243	0	T	60169243	C	T	60169243	2	4	88	1	0	0	0	0	0	0	0	1	14494	726	26	2		2	SLC16A7	12	60169243	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	884735	60169243	73682652	13029	20741											
USP15	9958	broad.mit.edu	37	chr12	62696619	62696619	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttattgatgaattggattAcatactgttgccaactgaag	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62696619A>G	ENST00000280377.5	+	3	324	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.Y89C|USP15_ENST00000312635.6_Missense_Mutation_p.Y89C|USP15_ENST00000393654.3_Missense_Mutation_p.Y89C	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	89	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAATTGGATTACATACTGTTG	0.363													False	0	False	12:62696619	0	G	62696619	A	G	62696619	3	3	88	1	0	0	0	0	1	0	0	0	17130	391	14	4	276	4	USP15	12	62696619	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2527376	62696619	71155276	13030	20742											
USP15	9958	broad.mit.edu	37	chr12	62775384	62775384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatagctaaatcttatgcCgaactgatcaagcaaatgtg	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62775384C>T	ENST00000280377.5	+	9	1087	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	USP15_ENST00000353364.3_Silent_p.A314A|USP15_ENST00000393654.3_Silent_p.A318A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	343					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AATCTTATGCCGAACTGATCA	0.403													False	0	False	12:62775384	0	T	62775384	C	T	62775384	2	4	88	1	0	0	0	0	0	0	0	1	17130	639	23	1		1	USP15	12	62775384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78765	62775384	71076511	13031	20743											
USP15	9958	broad.mit.edu	37	chr12	62777738	62777738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatagaattaggaaaaaaCcatatatacaattaaaagat	5	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62777738C>T	ENST00000280377.5	+	10	1265	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S	USP15_ENST00000353364.3_Missense_Mutation_p.P374S|USP15_ENST00000393654.3_Missense_Mutation_p.P378S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	403					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGGAAAAAACCATATATACA	0.338													False	0	True	12:62777738	0	T	62777738	C	T	62777738	3	4	88	1	0	0	0	0	1	0	0	0	17130	507	18	2	1154	2	USP15	12	62777738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2354	62777738	71074157	13032	20744											
MON2	23041	broad.mit.edu	37	chr12	62861091	62861091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaagaaattcccacctgTcaaagaggtaagcttcaggt	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62861091T>G	ENST00000393630.3	+	1	495	c.104T>G	c.(103-105)gTc>gGc	p.V35G	MON2_ENST00000549378.1_3'UTR|MON2_ENST00000552738.1_Missense_Mutation_p.V35G|MON2_ENST00000552115.1_Missense_Mutation_p.V35G|MON2_ENST00000393632.2_Missense_Mutation_p.V35G|MON2_ENST00000546600.1_Missense_Mutation_p.V35G|MON2_ENST00000280379.6_Missense_Mutation_p.V35G|MON2_ENST00000393629.2_Missense_Mutation_p.V35G	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	35					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTCCCACCTGTCAAAGAGGTA	0.542													False	0	False	12:62861091	0	G	62861091	T	G	62861091	3	3	88	1	0	0	0	0	1	0	0	0	9767	1667	58	4	106	4	MON2	12	62861091	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	83353	62861091	70990804	13033	20745											
PPM1H	57460	broad.mit.edu	37	chr12	63195669	63195669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttctcggtaaagaagCgtgtggggggcgtgctgggg	18	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:63195669C>T	ENST00000228705.6	-	3	983	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	228	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GGTAAAGAAGCGTGTGGGGGG	0.642													False	0	False	12:63195669	0	T	63195669	C	T	63195669	3	4	88	1	0	0	0	0	1	0	0	0	12415	768	27	1	893	1	PPM1H	12	63195669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334578	63195669	70656226	13034	20746											
AVPR1A	0	broad.mit.edu	37	chr12	63544452	63544452	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagtcaccgccagcacggcGatctccagtttggccagctc	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:63544452G>A	ENST00000299178.2	-	1	270	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	55					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCAGCACGGCGATCTCCAGTT	0.697													False	0	False	12:63544452	0	A	63544452	G	A	63544452	2	1	88	1	0	0	0	0	0	0	0	1	1235	1048	37	1		1	AVPR1A	12	63544452	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	348783	63544452	70307443	13035	20747											
DPY19L2	283417	broad.mit.edu	37	chr12	64038261	64038261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaccaacataaaagcaaGcaggatctcccaatcctttg	5	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64038261G>A	ENST00000324472.4	-	6	908	c.725C>T	c.(724-726)gCt>gTt	p.A242V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	242					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATAAAAGCAAGCAGGATCTCC	0.343													False	0	True	12:64038261	0	A	64038261	G	A	64038261	3	1	88	1	0	0	0	0	1	0	0	0	4771	971	34	2	1619	2	DPY19L2	12	64038261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	493809	64038261	69813634	13036	20748											
SRGAP1	57522	broad.mit.edu	37	chr12	64456834	64456834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataatttagagcccaggagCgataagcagagattcatgga	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64456834C>T	ENST00000355086.3	+	7	1463	c.939C>T	c.(937-939)agC>agT	p.S313S	SRGAP1_ENST00000543397.1_Silent_p.S273S|SRGAP1_ENST00000357825.3_Silent_p.S313S|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	313					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGCCCAGGAGCGATAAGCAGA	0.443													False	0	False	12:64456834	0	T	64456834	C	T	64456834	2	4	88	1	0	0	0	0	0	0	0	1	15227	767	27	1		1	SRGAP1	12	64456834	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418573	64456834	69395061	13037	20749											
SRGAP1	57522	broad.mit.edu	37	chr12	64474125	64474125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacttcaagccaaacatgaCttgctgcagaggaccctggg	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64474125C>A	ENST00000355086.3	+	10	1907	c.1383C>A	c.(1381-1383)gaC>gaA	p.D461E	SRGAP1_ENST00000543397.1_Missense_Mutation_p.D421E|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D461E|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	461					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCAAACATGACTTGCTGCAGA	0.358													False	0	False	12:64474125	0	A	64474125	C	A	64474125	3	1	88	1	0	0	0	0	1	0	0	0	15227	564	20	3	1421	3	SRGAP1	12	64474125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17291	64474125	69377770	13038	20750											
SRGAP1	57522	broad.mit.edu	37	chr12	64485152	64485152	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatggggatttggaaacattCgtcaaggtactggcaccagc	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64485152C>T	ENST00000355086.3	+	12	2057	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	SRGAP1_ENST00000543397.1_Intron|SRGAP1_ENST00000357825.3_Intron|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	511	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGGAAACATTCGTCAAGGTAC	0.478													False	0	False	12:64485152	0	T	64485152	C	T	64485152	2	4	88	1	0	0	0	0	0	0	0	1	15227	883	31	1		1	SRGAP1	12	64485152	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11027	64485152	69366743	13039	20751											
SRGAP1	57522	broad.mit.edu	37	chr12	64521459	64521459	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacaagtcctcatccaaggAcatgaactccccgacagacc	7	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64521459A>G	ENST00000355086.3	+	20	3019	c.2495A>G	c.(2494-2496)gAc>gGc	p.D832G	SRGAP1_ENST00000543397.1_Missense_Mutation_p.D769G|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D809G	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	832					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCATCCAAGGACATGAACTCC	0.557													False	0	False	12:64521459	0	G	64521459	A	G	64521459	3	3	88	1	0	0	0	0	1	0	0	0	15227	275	10	4	2573	4	SRGAP1	12	64521459	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36307	64521459	69330436	13040	20752											
SRGAP1	57522	broad.mit.edu	37	chr12	64536219	64536219	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgccacttccacggaatctCtcagccctttgcacaacgtt	6	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64536219C>A	ENST00000355086.3	+	22	3549	c.3025C>A	c.(3025-3027)Ctc>Atc	p.L1009I	SRGAP1_ENST00000543397.1_Missense_Mutation_p.L946I|SRGAP1_ENST00000357825.3_Missense_Mutation_p.L986I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1009					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CACGGAATCTCTCAGCCCTTT	0.547													False	0	True	12:64536219	0	A	64536219	C	A	64536219	3	1	88	1	0	0	0	0	1	0	0	0	15227	913	32	3	3111	3	SRGAP1	12	64536219	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14760	64536219	69315676	13041	20753											
SRGAP1	57522	broad.mit.edu	37	chr12	64536230	64536230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggaatctctcagccctttGcacaacgttgccctcaggag	9	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64536230G>A	ENST00000355086.3	+	22	3560	c.3036G>A	c.(3034-3036)ttG>ttA	p.L1012L	SRGAP1_ENST00000543397.1_Silent_p.L949L|SRGAP1_ENST00000357825.3_Silent_p.L989L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1012					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCAGCCCTTTGCACAACGTTG	0.552													False	0	True	12:64536230	0	A	64536230	G	A	64536230	2	1	88	1	0	0	0	0	0	0	0	1	15227	1310	46	2		2	SRGAP1	12	64536230	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	64536230	69315665	13042	20754											
C12orf56	115749	broad.mit.edu	37	chr12	64664489	64664489	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaatactggccacaaaAgtaatctagacaaggaaaat	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64664489A>G	ENST00000543942.2	-	12	2216	c.1590T>C	c.(1588-1590)acT>acC	p.T530T	C12orf56_ENST00000333722.5_Silent_p.T370T|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	533										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TGGCCACAAAAGTAATCTAGA	0.438													False	0	True	12:64664489	0	G	64664489	A	G	64664489	2	3	88	1	0	0	0	0	0	0	0	1	1709	59	3	4		4	C12orf56	12	64664489	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	128259	64664489	69187406	13043	20755											
XPOT	11260	broad.mit.edu	37	chr12	64818836	64818836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaattggcagactacacgGtttatggaagttgaagtagc	13	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64818836G>A	ENST00000332707.5	+	13	1855	c.1326G>A	c.(1324-1326)cgG>cgA	p.R442R		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	442					intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGACTACACGGTTTATGGAAG	0.373													False	0	True	12:64818836	0	A	64818836	G	A	64818836	2	1	88	1	0	0	0	0	0	0	0	1	17534	1248	44	2		2	XPOT	12	64818836	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154347	64818836	69033059	13044	20756											
XPOT	11260	broad.mit.edu	37	chr12	64841907	64841907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcttccagagagcaaagcCctgaggactggatttccctg	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64841907C>A	ENST00000332707.5	+	25	3414	c.2885C>A	c.(2884-2886)cCc>cAc	p.P962H		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	962	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGAGCAAAGCCCTGAGGACTG	0.383													False	0	True	12:64841907	0	A	64841907	C	A	64841907	3	1	88	1	0	0	0	0	1	0	0	0	17534	623	22	3	2979	3	XPOT	12	64841907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23071	64841907	69009988	13045	20757											
TBK1	29110	broad.mit.edu	37	chr12	64895141	64895141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaccatggatggtggccttCgcaacgttgactgtctttag	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64895141C>T	ENST00000331710.5	+	21	2509	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	724					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGGTGGCCTTCGCAACGTTGA	0.368													False	0	False	12:64895141	0	T	64895141	C	T	64895141	3	4	88	1	0	0	0	0	1	0	0	0	15719	884	31	1	2248	1	TBK1	12	64895141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53234	64895141	68956754	13046	20758											
WIF1	11197	broad.mit.edu	37	chr12	65461485	65461485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtcttacctttctcacaGtgaggtccgtggaacccatc	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65461485G>A	ENST00000286574.4	-	5	998	c.624C>T	c.(622-624)caC>caT	p.H208H		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	208	EGF-like 1.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTTCTCACAGTGAGGTCCGT	0.507			T	HMGA2	pleomorphic salivary gland adenoma								False	0	False	12:65461485	0	A	65461485	G	A	65461485	2	1	88	1	0	0	0	0	0	0	0	1	17450	1020	36	2		2	WIF1	12	65461485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	566344	65461485	68390410	13047	20759											
WIF1	11197	broad.mit.edu	37	chr12	65462580	65462580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagaagatagcattttgagGtgtttggagaatggtgttgc	14	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65462580G>T	ENST00000286574.4	-	4	876	c.502C>A	c.(502-504)Cct>Act	p.P168T		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	168	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GCATTTTGAGGTGTTTGGAGA	0.413			T	HMGA2	pleomorphic salivary gland adenoma								False	0	False	12:65462580	0	T	65462580	G	T	65462580	3	4	88	1	0	0	0	0	1	0	0	0	17450	1261	44	3	665	3	WIF1	12	65462580	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1095	65462580	68389315	13048	20760											
LEMD3	23592	broad.mit.edu	37	chr12	65632541	65632541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgatgtctttttggtgtcGttttcgacgtgcttttgtta	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65632541G>A	ENST00000308330.2	+	6	1894	c.1868G>A	c.(1867-1869)cGt>cAt	p.R623H		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	623					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTTTGGTGTCGTTTTCGACGT	0.353													False	0	True	12:65632541	0	A	65632541	G	A	65632541	3	1	88	1	0	0	0	0	1	0	0	0	8772	1145	40	1	1890	1	LEMD3	12	65632541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169961	65632541	68219354	13049	20761											
MSRB3	253827	broad.mit.edu	37	chr12	65702408	65702408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaaagagccagccagtaGcccttcgagcctgtgggctt	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65702408G>A	ENST00000308259.5	+	2	323	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	MSRB3_ENST00000355192.3_Intron|MSRB3_ENST00000540804.1_Intron|MSRB3_ENST00000538725.1_3'UTR|MSRB3_ENST00000535664.1_Missense_Mutation_p.A17T	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	0					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		CCAGCCAGTAGCCCTTCGAGC	0.502													False	0	True	12:65702408	0	A	65702408	G	A	65702408	3	1	88	1	0	0	0	0	1	0	0	0	9956	971	34	2	152	2	MSRB3	12	65702408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69867	65702408	68149487	13050	20762											
MSRB3	253827	broad.mit.edu	37	chr12	65856975	65856975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttttgatgatgggcctcGtccaactgggaaaagatact	10	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65856975G>A	ENST00000308259.5	+	7	705	c.431G>A	c.(430-432)cGt>cAt	p.R144H	MSRB3_ENST00000355192.3_Missense_Mutation_p.R151H|MSRB3_ENST00000535664.1_Missense_Mutation_p.R144H	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	151					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GATGGGCCTCGTCCAACTGGG	0.522													False	0	False	12:65856975	0	A	65856975	G	A	65856975	3	1	88	1	0	0	0	0	1	0	0	0	9956	1145	40	1	554	1	MSRB3	12	65856975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154567	65856975	67994920	13051	20763											
TMBIM4	51643	broad.mit.edu	37	chr12	66547187	66547187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaagtcactgtagttaagaGaacctgcagagaaagaatgc	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66547187G>A	ENST00000358230.3	-	2	259	c.139C>T	c.(139-141)Ctc>Ttc	p.L47F	TMBIM4_ENST00000556010.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000286424.7_Missense_Mutation_p.L94F|TMBIM4_ENST00000542724.1_Missense_Mutation_p.L16F|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000539652.1_Missense_Mutation_p.L47F|TMBIM4_ENST00000398033.4_Missense_Mutation_p.L47F	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	47						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		GTAGTTAAGAGAACCTGCAGA	0.308													False	0	False	12:66547187	0	A	66547187	G	A	66547187	3	1	88	1	0	0	0	0	1	0	0	0	16064	942	33	2	601	2	TMBIM4	12	66547187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	690212	66547187	67304708	13052	20764											
HELB	92797	broad.mit.edu	37	chr12	66700219	66700219	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactttaaatggatcataggGtcaggttctaaagagatgtt	10	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66700219G>T	ENST00000247815.4	+	3	761	c.702G>T	c.(700-702)ggG>ggT	p.G234G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	234					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGATCATAGGGTCAGGTTCTA	0.363													False	0	True	12:66700219	0	T	66700219	G	T	66700219	2	4	88	1	0	0	0	0	0	0	0	1	7092	1248	44	3		3	HELB	12	66700219	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153032	66700219	67151676	13053	20765											
HELB	92797	broad.mit.edu	37	chr12	66718889	66718889	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaacatgcatgggcaagaActattcacacttttcaggta	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66718889A>G	ENST00000247815.4	+	11	2712	c.2653A>G	c.(2653-2655)Act>Gct	p.T885A		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	885					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ATGGGCAAGAACTATTCACAC	0.343													False	0	False	12:66718889	0	G	66718889	A	G	66718889	3	3	88	1	0	0	0	0	1	0	0	0	7092	43	2	4	2695	4	HELB	12	66718889	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18670	66718889	67133006	13054	20766											
GRIP1	23426	broad.mit.edu	37	chr12	66990684	66990684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcggctttgtctggctggCggatttagtgtagggactct	16	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66990684C>T	ENST00000359742.4	-	2	319	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	GRIP1_ENST00000398016.3_Missense_Mutation_p.A27T|GRIP1_ENST00000286445.7_Missense_Mutation_p.A27T			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	27					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GTCTGGCTGGCGGATTTAGTG	0.443													False	0	True	12:66990684	0	T	66990684	C	T	66990684	3	4	88	1	0	0	0	0	1	0	0	0	6834	768	27	1	3243	1	GRIP1	12	66990684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271795	66990684	66861211	13055	20767											
CAND1	55832	broad.mit.edu	37	chr12	67686551	67686551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagaacttcctccagcttCcagtggtaagcaagagcaca	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:67686551C>T	ENST00000545606.1	+	3	799	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	121					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCTCCAGCTTCCAGTGGTAAG	0.433													False	0	False	12:67686551	0	T	67686551	C	T	67686551	3	4	88	1	0	0	0	0	1	0	0	0	2635	855	30	2	372	2	CAND1	12	67686551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	695867	67686551	66165344	13056	20768											
CAND1	55832	broad.mit.edu	37	chr12	67699732	67699732	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctagactttttccaagctCtggttgtcactggaacaaat	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:67699732C>A	ENST00000545606.1	+	10	2721	c.2284C>A	c.(2284-2286)Ctg>Atg	p.L762M		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	762					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTCCAAGCTCTGGTTGTCAC	0.433													False	0	False	12:67699732	0	A	67699732	C	A	67699732	3	1	88	1	0	0	0	0	1	0	0	0	2635	912	32	3	2322	3	CAND1	12	67699732	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13181	67699732	66152163	13057	20769											
IL26	55801	broad.mit.edu	37	chr12	68619463	68619463	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacttttggtgaaggaagatTgcttgtgcttggcaatggca	13	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:68619463T>C	ENST00000229134.4	-	1	138	c.74A>G	c.(73-75)cAa>cGa	p.Q25R	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	25					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GAAGGAAGATTGCTTGTGCTT	0.473													False	0	False	12:68619463	0	C	68619463	T	C	68619463	3	2	88	1	0	0	0	0	1	0	0	0	7729	1812	63	4	461	4	IL26	12	68619463	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	919731	68619463	65232432	13058	20770											
MDM1	56890	broad.mit.edu	37	chr12	68707511	68707511	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggaagccggcctcctttttCtgaggatacagaagaatctg	11	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:68707511C>T	ENST00000303145.7	-	10	1608	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	MDM1_ENST00000411698.2_Missense_Mutation_p.E473K|MDM1_ENST00000540418.1_Missense_Mutation_p.E228K	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	508						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CCTCCTTTTTCTGAGGATACA	0.403													False	0	True	12:68707511	0	T	68707511	C	T	68707511	3	4	88	1	0	0	0	0	1	0	0	0	9479	922	32	2	642	2	MDM1	12	68707511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88048	68707511	65144384	13059	20771											
RAP1B	5908	broad.mit.edu	37	chr12	69050899	69050899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcttttatgacctagtgCggcaaattaacagaaaaact	7	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69050899C>T	ENST00000250559.9	+	7	718	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	RAP1B_ENST00000539091.1_Missense_Mutation_p.R121W|RAP1B_ENST00000450214.2_Missense_Mutation_p.R121W|RAP1B_ENST00000378985.3_Missense_Mutation_p.R97W|RAP1B_ENST00000341355.5_Missense_Mutation_p.R163W|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000540209.1_Missense_Mutation_p.R144W|RAP1B_ENST00000543697.1_Missense_Mutation_p.R115W|RAP1B_ENST00000542145.1_Missense_Mutation_p.R116W|RAP1B_ENST00000543393.1_Missense_Mutation_p.R97W|RAP1B_ENST00000537460.1_Missense_Mutation_p.R163W|RAP1B_ENST00000393436.5_Missense_Mutation_p.R163W	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	163					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TGACCTAGTGCGGCAAATTAA	0.373													False	0	False	12:69050899	0	T	69050899	C	T	69050899	3	4	88	1	0	0	0	0	1	0	0	0	13115	759	27	1	509	1	RAP1B	12	69050899	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343388	69050899	64800996	13060	20772											
NUP107	57122	broad.mit.edu	37	chr12	69125432	69125432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactgtagttgagaatattcGaaagaaagataatggtgaat	10	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69125432G>A	ENST00000229179.4	+	22	2263	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q|NUP107_ENST00000378905.2_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	644					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GAGAATATTCGAAAGAAAGAT	0.353													False	0	True	12:69125432	0	A	69125432	G	A	69125432	3	1	88	1	0	0	0	0	1	0	0	0	10821	1058	37	1	2017	1	NUP107	12	69125432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74533	69125432	64726463	13061	20773											
MDM2	4193	broad.mit.edu	37	chr12	69222680	69222680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgttgtgaaagaagcagtaGcagtgaatctacagggacgc	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69222680G>T	ENST00000462284.1	+	8	955	c.653G>T	c.(652-654)aGc>aTc	p.S218I	MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.S157I|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S163I|MDM2_ENST00000350057.5_Missense_Mutation_p.S187I|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	212	ARF-binding.|Interaction with MTBP (By similarity).|Interaction with PYHIN1.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AGAAGCAGTAGCAGTGAATCT	0.418			A		"sarcoma, glioma, colorectal, other"								False	0	True	12:69222680	0	T	69222680	G	T	69222680	3	4	88	1	0	0	0	0	1	0	0	0	9480	971	34	3	683	3	MDM2	12	69222680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97248	69222680	64629215	13062	20774											
CPSF6	11052	broad.mit.edu	37	chr12	69653851	69653851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtgctattgagacacTggtaactgcaatttctttaa	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69653851T>C	ENST00000435070.2	+	8	1453	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P	CPSF6_ENST00000456847.3_Missense_Mutation_p.L375P|CPSF6_ENST00000266679.8_Missense_Mutation_p.L485P|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	448					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ATTGAGACACTGGTAACTGCA	0.363													False	0	False	12:69653851	0	C	69653851	T	C	69653851	3	2	88	1	0	0	0	0	1	0	0	0	3852	1580	55	4	1373	4	CPSF6	12	69653851	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	431171	69653851	64198044	13063	20775											
CCT2	10576	broad.mit.edu	37	chr12	69987317	69987317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttataattatcctgaacaGctctttggtgctgctggtgt	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69987317G>A	ENST00000543146.2	+	10	1247	c.765G>A	c.(763-765)caG>caA	p.Q255Q	CCT2_ENST00000544368.2_Silent_p.Q302Q|CCT2_ENST00000299300.6_Silent_p.Q302Q	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	302					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ATCCTGAACAGCTCTTTGGTG	0.358													False	0	False	12:69987317	0	A	69987317	G	A	69987317	2	1	88	1	0	0	0	0	0	0	0	1	2976	962	34	2		2	CCT2	12	69987317	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	333466	69987317	63864578	13064	20776											
CCT2	10576	broad.mit.edu	37	chr12	69990949	69990949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttataggtggtgaaattgcCtctacctttgatcacccaga	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69990949C>T	ENST00000543146.2	+	11	1337	c.855C>T	c.(853-855)gcC>gcT	p.A285A	CCT2_ENST00000544368.2_Silent_p.A332A|CCT2_ENST00000299300.6_Silent_p.A332A	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	332					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GTGAAATTGCCTCTACCTTTG	0.373													False	0	False	12:69990949	0	T	69990949	C	T	69990949	2	4	88	1	0	0	0	0	0	0	0	1	2976	668	24	2		2	CCT2	12	69990949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3632	69990949	63860946	13065	20777											
CCT2	10576	broad.mit.edu	37	chr12	69991040	69991040	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagacaaactcattcactttTctggggttgcccttggtgag	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69991040T>G	ENST00000543146.2	+	11	1428	c.946T>G	c.(946-948)Tct>Gct	p.S316A	CCT2_ENST00000544368.2_Missense_Mutation_p.S363A|CCT2_ENST00000299300.6_Missense_Mutation_p.S363A	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	363					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CATTCACTTTTCTGGGGTTGC	0.408													False	0	True	12:69991040	0	G	69991040	T	G	69991040	3	3	88	1	0	0	0	0	1	0	0	0	2976	1783	62	4	1129	4	CCT2	12	69991040	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	91	69991040	63860855	13066	20778											
CCT2	10576	broad.mit.edu	37	chr12	69991508	69991508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctctttgtgttcttgCgcaaactgtaaaggactcta	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69991508C>T	ENST00000543146.2	+	12	1534	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	CCT2_ENST00000544368.2_Missense_Mutation_p.A398V|CCT2_ENST00000299300.6_Missense_Mutation_p.A398V	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	398					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGTGTTCTTGCGCAAACTGTA	0.333													False	0	False	12:69991508	0	T	69991508	C	T	69991508	3	4	88	1	0	0	0	0	1	0	0	0	2976	768	27	1	1239	1	CCT2	12	69991508	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	468	69991508	63860387	13067	20779											
BEST3	144453	broad.mit.edu	37	chr12	70049199	70049199	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatcaatacctcaggtaccaGtggcattttgatgggggaag	13	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70049199G>T	ENST00000330891.5	-	10	1721	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M	BEST3_ENST00000553096.1_Missense_Mutation_p.L393M|BEST3_ENST00000488961.1_Missense_Mutation_p.L286M|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	499						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCAGGTACCAGTGGCATTTTG	0.547													False	0	False	12:70049199	0	T	70049199	G	T	70049199	3	4	88	1	0	0	0	0	1	0	0	0	1410	1020	36	3	515	3	BEST3	12	70049199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57691	70049199	63802696	13068	20780											
BEST3	144453	broad.mit.edu	37	chr12	70049400	70049400	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatccagtaggtccctggCtgggctgaggtcatctcggg	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70049400C>A	ENST00000330891.5	-	10	1520	c.1294G>T	c.(1294-1296)Gcc>Tcc	p.A432S	BEST3_ENST00000553096.1_Missense_Mutation_p.A326S|BEST3_ENST00000488961.1_Missense_Mutation_p.A219S|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	432						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGTCCCTGGCTGGGCTGAGG	0.597													False	0	True	12:70049400	0	A	70049400	C	A	70049400	3	1	88	1	0	0	0	0	1	0	0	0	1410	797	28	3	716	3	BEST3	12	70049400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201	70049400	63802495	13069	20781											
RAB3IP	117177	broad.mit.edu	37	chr12	70149351	70149351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcctctgtacctatccagGcaaatgcattagatgtttct	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70149351G>A	ENST00000550536.1	+	2	668	c.211G>A	c.(211-213)Gca>Aca	p.A71T	RAB3IP_ENST00000247833.7_Missense_Mutation_p.A55T|RAB3IP_ENST00000483530.2_Missense_Mutation_p.A55T|RAB3IP_ENST00000378815.6_Missense_Mutation_p.A55T|RAB3IP_ENST00000362025.5_Missense_Mutation_p.A71T|RAB3IP_ENST00000325555.9_5'UTR	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	71					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ACCTATCCAGGCAAATGCATT	0.443													False	0	False	12:70149351	0	A	70149351	G	A	70149351	3	1	88	1	0	0	0	0	1	0	0	0	13017	1203	42	2	217	2	RAB3IP	12	70149351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99951	70149351	63702544	13070	20782											
RAB3IP	117177	broad.mit.edu	37	chr12	70149369	70149369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaatgcattagatgttTctgaacttcctacacaaccc	6	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70149369T>C	ENST00000550536.1	+	2	686	c.229T>C	c.(229-231)Tct>Cct	p.S77P	RAB3IP_ENST00000247833.7_Missense_Mutation_p.S61P|RAB3IP_ENST00000483530.2_Missense_Mutation_p.S61P|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S61P|RAB3IP_ENST00000362025.5_Missense_Mutation_p.S77P|RAB3IP_ENST00000325555.9_5'UTR	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	77					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ATTAGATGTTTCTGAACTTCC	0.418													False	0	True	12:70149369	0	C	70149369	T	C	70149369	3	2	88	1	0	0	0	0	1	0	0	0	13017	1783	62	4	235	4	RAB3IP	12	70149369	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18	70149369	63702526	13071	20783											
RAB3IP	117177	broad.mit.edu	37	chr12	70206614	70206614	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacagaattaaattaggggActcaagcaactattattata	6	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70206614A>G	ENST00000550536.1	+	9	1692	c.1235A>G	c.(1234-1236)gAc>gGc	p.D412G	RAB3IP_ENST00000247833.7_Missense_Mutation_p.D396G|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D103G|AC025263.3_ENST00000550437.1_Missense_Mutation_p.D37G|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D190G|RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D190G	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	412					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AAATTAGGGGACTCAAGCAAC	0.328													False	0	True	12:70206614	0	G	70206614	A	G	70206614	3	3	88	1	0	0	0	0	1	0	0	0	13017	275	10	4	1269	4	RAB3IP	12	70206614	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57245	70206614	63645281	13072	20784											
CNOT2	4848	broad.mit.edu	37	chr12	70731292	70731292	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagtaatgatgacagtaaatCtgtaagtaactgagaagtgt	10	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70731292C>A	ENST00000229195.3	+	9	1478	c.899C>A	c.(898-900)tCt>tAt	p.S300Y	CNOT2_ENST00000418359.3_Splice_Site_p.S300Y|CNOT2_ENST00000551483.1_5'UTR	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	300					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GACAGTAAATCTGTAAGTAAC	0.328													False	0	False	12:70731292	0	A	70731292	C	A	70731292	5	1	88	1	0	0	0	0	0	0	1	0	3642	927	32	3	929	3	CNOT2	12	70731292	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	524678	70731292	63120603	13073	20785											
KCNMB4	27345	broad.mit.edu	37	chr12	70760741	70760741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacctgtggcgccgactGcaggggcacctcgcagtacc	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70760741G>A	ENST00000258111.4	+	1	686	c.227G>A	c.(226-228)tGc>tAc	p.C76Y		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	76					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GGCGCCGACTGCAGGGGCACC	0.637													False	0	False	12:70760741	0	A	70760741	G	A	70760741	3	1	88	1	0	0	0	0	1	0	0	0	8127	1319	46	2	229	2	KCNMB4	12	70760741	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29449	70760741	63091154	13074	20786											
PTPRB	0	broad.mit.edu	37	chr12	70938438	70938438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgtaaaagctcgaatgCtgattctgaaaagaaaaccg	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70938438C>T	ENST00000334414.6	-	22	5437	c.5393G>A	c.(5392-5394)aGc>aAc	p.S1798N	PTPRB_ENST00000550358.1_Missense_Mutation_p.S1710N|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1490N|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1490N|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1490N|PTPRB_ENST00000261266.5_Missense_Mutation_p.S1580N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1580	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCTCGAATGCTGATTCTGAA	0.368													False	0	False	12:70938438	0	T	70938438	C	T	70938438	3	4	88	1	0	0	0	0	1	0	0	0	12875	797	28	2	1306	2	PTPRB	12	70938438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	177697	70938438	62913457	13075	20787											
PTPRB	0	broad.mit.edu	37	chr12	70949649	70949649	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctccagggacacttaCggtctatcattgtgatagtg	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70949649C>T	ENST00000334414.6	-	19	5038		c.e19+1		PTPRB_ENST00000550358.1_Splice_Site|PTPRB_ENST00000451516.2_Splice_Site|PTPRB_ENST00000550857.1_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000261266.5_Splice_Site	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGACACTTACGGTCTATCAT	0.522													False	0	False	12:70949649	0	T	70949649	C	T	70949649	5	4	88	1	0	0	0	0	0	0	1	0	12875	550	19	1	1717	1	PTPRB	12	70949649	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11211	70949649	62902246	13076	20788											
PTPRB	0	broad.mit.edu	37	chr12	70953185	70953185	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaatcaccactgacagtcTtgacgttgaattgataggat	10	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70953185T>G	ENST00000334414.6	-	18	4696	c.4652A>C	c.(4651-4653)aAg>aCg	p.K1551T	PTPRB_ENST00000550358.1_Missense_Mutation_p.K1463T|PTPRB_ENST00000451516.2_Missense_Mutation_p.K1243T|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000551525.1_Missense_Mutation_p.K1550T|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1243T|PTPRB_ENST00000261266.5_Missense_Mutation_p.K1333T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1333					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTGACAGTCTTGACGTTGAA	0.413													False	0	False	12:70953185	0	G	70953185	T	G	70953185	3	3	88	1	0	0	0	0	1	0	0	0	12875	1609	56	4	2063	4	PTPRB	12	70953185	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3536	70953185	62898710	13077	20789											
PTPRB	0	broad.mit.edu	37	chr12	70953285	70953285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagacagtaagtgcatctcTgggcaaccactgcagctcaa	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70953285T>C	ENST00000334414.6	-	18	4596	c.4552A>G	c.(4552-4554)Aga>Gga	p.R1518G	PTPRB_ENST00000550358.1_Missense_Mutation_p.R1430G|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1210G|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000551525.1_Missense_Mutation_p.R1517G|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1210G|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1300G	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1300	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGTGCATCTCTGGGCAACCAC	0.478													False	0	True	12:70953285	0	C	70953285	T	C	70953285	3	2	88	1	0	0	0	0	1	0	0	0	12875	1588	55	4	2163	4	PTPRB	12	70953285	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	100	70953285	62898610	13078	20790											
PTPRB	0	broad.mit.edu	37	chr12	70974816	70974816	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacatatctctacttcttacCtgttcttccctccacaacca	1	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70974816C>A	ENST00000334414.6	-	10	2622	c.2578G>T	c.(2578-2580)Gtc>Ttc	p.V860F	PTPRB_ENST00000550358.1_Splice_Site_p.V860L|PTPRB_ENST00000451516.2_Splice_Site_p.V552F|PTPRB_ENST00000550857.1_Splice_Site_p.V552F|PTPRB_ENST00000551525.1_Splice_Site_p.V859F|PTPRB_ENST00000538708.1_Splice_Site_p.V642F|PTPRB_ENST00000261266.5_Splice_Site_p.V642F	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	642	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TACTTCTTACCTGTTCTTCCC	0.453													False	0	False	12:70974816	0	A	70974816	C	A	70974816	5	1	88	1	0	0	0	0	0	0	1	0	12875	695	24	3	4169	3	PTPRB	12	70974816	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21531	70974816	62877079	13079	20791											
PTPRB	0	broad.mit.edu	37	chr12	70980889	70980889	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggtcagtaaaagtgaattCtttggcatctttggagagtg	12	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70980889C>T	ENST00000334414.6	-	9	2253	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	PTPRB_ENST00000550358.1_Missense_Mutation_p.E737K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E429K|PTPRB_ENST00000550857.1_Missense_Mutation_p.E429K|PTPRB_ENST00000551525.1_Missense_Mutation_p.E736K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E519K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000261266.5_Missense_Mutation_p.E519K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	519	Fibronectin type-III 9.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAAGTGAATTCTTTGGCATCT	0.433													False	0	True	12:70980889	0	T	70980889	C	T	70980889	3	4	88	1	0	0	0	0	1	0	0	0	12875	922	32	2	4542	2	PTPRB	12	70980889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6073	70980889	62871006	13080	20792											
PTPRB	0	broad.mit.edu	37	chr12	70986112	70986112	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagttcaccagagacacagCtgacagtaacttgataaagt	8	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70986112C>A	ENST00000334414.6	-	7	1774	c.1730G>T	c.(1729-1731)aGc>aTc	p.S577I	PTPRB_ENST00000550358.1_Missense_Mutation_p.S577I|PTPRB_ENST00000451516.2_Missense_Mutation_p.S359I|PTPRB_ENST00000550857.1_Missense_Mutation_p.S359I|PTPRB_ENST00000551525.1_Missense_Mutation_p.S576I|PTPRB_ENST00000538708.1_Missense_Mutation_p.S359I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000261266.5_Missense_Mutation_p.S359I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	359	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAGACACAGCTGACAGTAAC	0.463													False	0	False	12:70986112	0	A	70986112	C	A	70986112	3	1	88	1	0	0	0	0	1	0	0	0	12875	797	28	3	5029	3	PTPRB	12	70986112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5223	70986112	62865783	13081	20793											
PTPRB	0	broad.mit.edu	37	chr12	70986244	70986244	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tattgtaagaatccacatttCcaggaggtctttgccatttg	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70986244C>A	ENST00000334414.6	-	7	1642	c.1598G>T	c.(1597-1599)gGa>gTa	p.G533V	PTPRB_ENST00000550358.1_Missense_Mutation_p.G533V|PTPRB_ENST00000451516.2_Missense_Mutation_p.G315V|PTPRB_ENST00000550857.1_Missense_Mutation_p.G315V|PTPRB_ENST00000551525.1_Missense_Mutation_p.G532V|PTPRB_ENST00000538708.1_Missense_Mutation_p.G315V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000261266.5_Missense_Mutation_p.G315V	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	315	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATCCACATTTCCAGGAGGTCT	0.413													False	0	True	12:70986244	0	A	70986244	C	A	70986244	3	1	88	1	0	0	0	0	1	0	0	0	12875	855	30	3	5161	3	PTPRB	12	70986244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132	70986244	62865651	13082	20794											
PTPRB	0	broad.mit.edu	37	chr12	71029672	71029672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatggctgagcgggaggggCcgcgggaagagttggagatg	22	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71029672C>A	ENST00000334414.6	-	2	274	c.230G>T	c.(229-231)gGc>gTc	p.G77V	PTPRB_ENST00000550358.1_Missense_Mutation_p.G77V|PTPRB_ENST00000551525.1_Missense_Mutation_p.G76V|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCGGGAGGGGCCGCGGGAAGA	0.547													False	0	True	12:71029672	0	A	71029672	C	A	71029672	3	1	88	1	0	0	0	0	1	0	0	0	12875	739	26	3	6607	3	PTPRB	12	71029672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43428	71029672	62822223	13083	20795											
LGR5	8549	broad.mit.edu	37	chr12	71834062	71834062	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttccaacctcagcgtcttcAcctcctacctgtaagtactt	4	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71834062A>G	ENST00000266674.5	+	1	513	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	LGR5_ENST00000536515.1_Missense_Mutation_p.T68A|LGR5_ENST00000540815.2_Missense_Mutation_p.T68A|TSPAN8_ENST00000393330.2_Intron			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	68						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CAGCGTCTTCACCTCCTACCT	0.632													False	0	False	12:71834062	0	G	71834062	A	G	71834062	3	3	88	1	0	0	0	0	1	0	0	0	8809	159	6	4	204	4	LGR5	12	71834062	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	804390	71834062	62017833	13084	20796											
LGR5	8549	broad.mit.edu	37	chr12	71972657	71972657	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taactcacttaaaattaacaGgaaatcatgccttacagagc	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71972657G>T	ENST00000266674.5	+	15	1665	c.1354G>T	c.(1354-1356)Gga>Tga	p.G452*	LGR5_ENST00000536515.1_Nonsense_Mutation_p.G380*|LGR5_ENST00000540815.2_Nonsense_Mutation_p.G428*			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	452						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AAAATTAACAGGAAATCATGC	0.363													False	0	False	12:71972657	0	T	71972657	G	T	71972657	4	4	88	1	0	0	0	0	0	1	0	0	8809	1001	35	3	1412	3	LGR5	12	71972657	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138595	71972657	61879238	13085	20797											
LGR5	8549	broad.mit.edu	37	chr12	71978503	71978503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctctgtggcatttgtcCcatgtctctaattaatatgt	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71978503C>T	ENST00000266674.5	+	18	3024	c.2713C>T	c.(2713-2715)Cca>Tca	p.P905S	LGR5_ENST00000536515.1_Missense_Mutation_p.P833S|LGR5_ENST00000540815.2_Missense_Mutation_p.P881S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	905						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GGCATTTGTCCCATGTCTCTA	0.428													False	0	True	12:71978503	0	T	71978503	C	T	71978503	3	4	88	1	0	0	0	0	1	0	0	0	8809	623	22	2	2783	2	LGR5	12	71978503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5846	71978503	61873392	13086	20798											
ZFC3H1	196441	broad.mit.edu	37	chr12	72008644	72008644	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcttctgtactatatcacatCtcatagccacccctaatgct	3	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72008644C>A	ENST00000378743.3	-	29	5688	c.5330G>T	c.(5329-5331)aGa>aTa	p.R1777I		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1777					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATATCACATCTCATAGCCAC	0.388													False	0	False	12:72008644	0	A	72008644	C	A	72008644	3	1	88	1	0	0	0	0	1	0	0	0	17716	913	32	3	667	3	ZFC3H1	12	72008644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30141	72008644	61843251	13087	20799											
ZFC3H1	196441	broad.mit.edu	37	chr12	72017193	72017193	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttacatcttgaacagctTgccatggcattacaaatgat	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72017193T>C	ENST00000378743.3	-	24	5049	c.4691A>G	c.(4690-4692)cAa>cGa	p.Q1564R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1564					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTGAACAGCTTGCCATGGCAT	0.299													False	0	False	12:72017193	0	C	72017193	T	C	72017193	3	2	88	1	0	0	0	0	1	0	0	0	17716	1812	63	4	1326	4	ZFC3H1	12	72017193	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8549	72017193	61834702	13088	20800											
ZFC3H1	196441	broad.mit.edu	37	chr12	72024411	72024411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatttcttcattagtactTgtctctgcacaaccaatcaa	4	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72024411T>C	ENST00000378743.3	-	18	4051	c.3693A>G	c.(3691-3693)acA>acG	p.T1231T		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1231					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATTAGTACTTGTCTCTGCAC	0.328													False	0	False	12:72024411	0	C	72024411	T	C	72024411	2	2	88	1	0	0	0	0	0	0	0	1	17716	1799	63	4		4	ZFC3H1	12	72024411	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7218	72024411	61827484	13089	20801											
ZFC3H1	196441	broad.mit.edu	37	chr12	72026135	72026135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagagatattttgttgttCctttgctttaagggcacggg	13	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72026135C>T	ENST00000378743.3	-	15	3335	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	993					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGTTGTTCCTTTGCTTTA	0.378													False	0	False	12:72026135	0	T	72026135	C	T	72026135	3	4	88	1	0	0	0	0	1	0	0	0	17716	864	30	2	3076	2	ZFC3H1	12	72026135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1724	72026135	61825760	13090	20802											
ZFC3H1	196441	broad.mit.edu	37	chr12	72030364	72030364	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatactgactattgatagaTtgcttcttggcacaggatgt	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72030364T>C	ENST00000378743.3	-	9	2364	c.2006A>G	c.(2005-2007)aAt>aGt	p.N669S		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	669					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATTGATAGATTGCTTCTTGG	0.418													False	0	False	12:72030364	0	C	72030364	T	C	72030364	3	2	88	1	0	0	0	0	1	0	0	0	17716	1493	52	4	4071	4	ZFC3H1	12	72030364	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4229	72030364	61821531	13091	20803											
ZFC3H1	196441	broad.mit.edu	37	chr12	72032277	72032277	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacattcagagaaaaatggcGgttgcactggtgaaggagct	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72032277G>A	ENST00000378743.3	-	7	2004	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	549	Pro-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAAAATGGCGGTTGCACTGG	0.343													False	0	False	12:72032277	0	A	72032277	G	A	72032277	3	1	88	1	0	0	0	0	1	0	0	0	17716	1116	39	1	4439	1	ZFC3H1	12	72032277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1913	72032277	61819618	13092	20804											
ZFC3H1	196441	broad.mit.edu	37	chr12	72036294	72036294	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ataaatgcctcctccactatCagtaggttgcttatctaagg	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72036294C>G	ENST00000378743.3	-	6	1907	c.1549G>C	c.(1549-1551)Gat>Cat	p.D517H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	517					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCTCCACTATCAGTAGGTTGC	0.383													False	0	False	12:72036294	0	G	72036294	C	G	72036294	3	3	88	1	0	0	0	0	1	0	0	0	17716	826	29	5	4540	5	ZFC3H1	12	72036294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4017	72036294	61815601	13093	20805											
ZFC3H1	196441	broad.mit.edu	37	chr12	72057309	72057309	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgttattatcgtcgtcacTgatttccccatcttcaagct	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72057309T>G	ENST00000378743.3	-	1	440	c.82A>C	c.(82-84)Agt>Cgt	p.S28R	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S28R|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S28R|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	28					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCGTCGTCACTGATTTCCCCA	0.647											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:72057309	0	G	72057309	T	G	72057309	3	3	88	1	0	0	0	0	1	0	0	0	17716	1580	55	4	6027	4	ZFC3H1	12	72057309	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21015	72057309	61794586	13094	20806											
THAP2	83591	broad.mit.edu	37	chr12	72070775	72070775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacatcagaacacatgttaCcaactgccttaagcagtctt	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72070775C>T	ENST00000308086.2	+	3	2075	c.574C>T	c.(574-576)Cca>Tca	p.P192S	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	192						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						ACACATGTTACCAACTGCCTT	0.378													False	0	False	12:72070775	0	T	72070775	C	T	72070775	3	4	88	1	0	0	0	0	1	0	0	0	15926	507	18	2	584	2	THAP2	12	72070775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13466	72070775	61781120	13095	20807											
TMEM19	55266	broad.mit.edu	37	chr12	72080331	72080331	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaatttttgtgatttttatgCttgtttggtcggtggaatat	11	2	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72080331C>A	ENST00000266673.5	+	0	465				RP11-293I14.2_ENST00000548802.1_Intron|TMEM19_ENST00000549735.1_De_novo_Start_InFrame	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19							integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GATTTTTATGCTTGTTTGGTC	0.438													False	0	False	12:72080331	0	A	72080331	C	A	72080331	1	1	88	1	0	0	0	0	0	0	0	0	16195	812	28	3		3	TMEM19	12	72080331	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9556	72080331	61771564	13096	20808											
TMEM19	55266	broad.mit.edu	37	chr12	72083392	72083392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacttacgacctatttctcCgtggcgttggctgttttctg	9	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72083392C>T	ENST00000266673.5	+	2	746	c.152C>T	c.(151-153)cCg>cTg	p.P51L	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R73C|TMEM19_ENST00000549735.1_Missense_Mutation_p.P51L	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	51						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CCTATTTCTCCGTGGCGTTGG	0.413													False	0	False	12:72083392	0	T	72083392	C	T	72083392	3	4	88	1	0	0	0	0	1	0	0	0	16195	652	23	1	158	1	TMEM19	12	72083392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3061	72083392	61768503	13097	20809											
TBC1D15	64786	broad.mit.edu	37	chr12	72300817	72300817	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcagaaaaagatgttaacaGaacagatcgaacaaacaagt	7	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72300817G>A	ENST00000550746.1	+	12	1314	c.1250G>A	c.(1249-1251)aGa>aAa	p.R417K	TBC1D15_ENST00000548679.1_3'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R408K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R171K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R400K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	417	Rab-GAP TBC.						protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGTTAACAGAACAGATCGA	0.318													False	0	True	12:72300817	0	A	72300817	G	A	72300817	3	1	88	1	0	0	0	0	1	0	0	0	15686	942	33	2	1420	2	TBC1D15	12	72300817	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217425	72300817	61551078	13098	20810											
TPH2	121278	broad.mit.edu	37	chr12	72416266	72416266	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactcctttcctccattggaGaattaaaggtatgaagctgt	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72416266G>T	ENST00000333850.3	+	9	1297	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	386					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTCCATTGGAGAATTAAAGGT	0.428													False	0	False	12:72416266	0	T	72416266	G	T	72416266	4	4	88	1	0	0	0	0	0	1	0	0	16485	943	33	3	1190	3	TPH2	12	72416266	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115449	72416266	61435629	13099	20811											
TPH2	121278	broad.mit.edu	37	chr12	72425041	72425041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtatattttgcagcacGccctttctgacaaggcatgt	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72425041G>A	ENST00000333850.3	+	10	1309	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	390					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTTGCAGCACGCCCTTTCTGA	0.423													False	0	True	12:72425041	0	A	72425041	G	A	72425041	3	1	88	1	0	0	0	0	1	0	0	0	16485	1087	38	1	1206	1	TPH2	12	72425041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8775	72425041	61426854	13100	20812											
TRHDE	29953	broad.mit.edu	37	chr12	72667284	72667284	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctacaacgcgctcatcgaGaatgagctcctgggcttctt	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72667284G>T	ENST00000261180.4	+	1	822	c.726G>T	c.(724-726)gaG>gaT	p.E242D	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	242					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CGCTCATCGAGAATGAGCTCC	0.602													False	0	False	12:72667284	0	T	72667284	G	T	72667284	3	4	88	1	0	0	0	0	1	0	0	0	16562	933	33	3	728	3	TRHDE	12	72667284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242243	72667284	61184611	13101	20813											
TRHDE	29953	broad.mit.edu	37	chr12	72771827	72771827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaggatccggggactatgCtctccatataacaaagagat	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72771827C>A	ENST00000261180.4	+	3	1202	c.1106C>A	c.(1105-1107)gCt>gAt	p.A369D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	369					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGGGACTATGCTCTCCATATA	0.318													False	0	False	12:72771827	0	A	72771827	C	A	72771827	3	1	88	1	0	0	0	0	1	0	0	0	16562	797	28	3	1116	3	TRHDE	12	72771827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104543	72771827	61080068	13102	20814											
TRHDE	29953	broad.mit.edu	37	chr12	73014970	73014970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatggatctcttgttcaagCatcctaccaacatgagtact	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:73014970C>T	ENST00000261180.4	+	14	2513	c.2417C>T	c.(2416-2418)gCa>gTa	p.A806V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	806					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTTGTTCAAGCATCCTACCAA	0.343													False	0	False	12:73014970	0	T	73014970	C	T	73014970	3	4	88	1	0	0	0	0	1	0	0	0	16562	710	25	2	2471	2	TRHDE	12	73014970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243143	73014970	60836925	13103	20815											
KCNC2	3747	broad.mit.edu	37	chr12	75444592	75444592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggcatagtagatcatgGtagcaaatatcaaaactcct	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444592G>A	ENST00000549446.1	-	3	1873	c.1193C>T	c.(1192-1194)aCc>aTc	p.T398I	KCNC2_ENST00000540018.1_Missense_Mutation_p.T398I|KCNC2_ENST00000550433.1_Missense_Mutation_p.T398I|KCNC2_ENST00000298972.1_Missense_Mutation_p.T398I|KCNC2_ENST00000341669.3_Missense_Mutation_p.T398I|KCNC2_ENST00000393288.2_Missense_Mutation_p.T398I|KCNC2_ENST00000548513.1_Missense_Mutation_p.T398I|KCNC2_ENST00000350228.2_Missense_Mutation_p.T398I|KCNC2_ENST00000548243.1_5'UTR	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	398					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GTAGATCATGGTAGCAAATAT	0.448													False	0	False	12:75444592	0	A	75444592	G	A	75444592	3	1	88	1	0	0	0	0	1	0	0	0	8065	1261	44	2	801	2	KCNC2	12	75444592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2429622	75444592	58407303	13104	20816											
KCNC2	3747	broad.mit.edu	37	chr12	75444616	75444616	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaatatcaaaactcctagaGccaggaaaattatcagcagc	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444616G>T	ENST00000549446.1	-	3	1849	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D	KCNC2_ENST00000540018.1_Missense_Mutation_p.A390D|KCNC2_ENST00000550433.1_Missense_Mutation_p.A390D|KCNC2_ENST00000298972.1_Missense_Mutation_p.A390D|KCNC2_ENST00000341669.3_Missense_Mutation_p.A390D|KCNC2_ENST00000393288.2_Missense_Mutation_p.A390D|KCNC2_ENST00000548513.1_Missense_Mutation_p.A390D|KCNC2_ENST00000350228.2_Missense_Mutation_p.A390D|KCNC2_ENST00000548243.1_5'UTR	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	390					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AACTCCTAGAGCCAGGAAAAT	0.438													False	0	False	12:75444616	0	T	75444616	G	T	75444616	3	4	88	1	0	0	0	0	1	0	0	0	8065	971	34	3	825	3	KCNC2	12	75444616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	75444616	58407279	13105	20817											
KCNC2	3747	broad.mit.edu	37	chr12	75444879	75444879	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtttattgggtgaaaaAacaatacggactaaaaattc	7	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444879A>C	ENST00000549446.1	-	3	1586	c.906T>G	c.(904-906)gtT>gtG	p.V302V	KCNC2_ENST00000540018.1_Silent_p.V302V|KCNC2_ENST00000550433.1_Silent_p.V302V|KCNC2_ENST00000298972.1_Silent_p.V302V|KCNC2_ENST00000341669.3_Silent_p.V302V|KCNC2_ENST00000393288.2_Silent_p.V302V|KCNC2_ENST00000548513.1_Silent_p.V302V|KCNC2_ENST00000350228.2_Silent_p.V302V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	302					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TGGGTGAAAAAACAATACGGA	0.388													False	0	True	12:75444879	0	C	75444879	A	C	75444879	2	2	88	1	0	0	0	0	0	0	0	1	8065	1	1	4		4	KCNC2	12	75444879	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	263	75444879	58407016	13106	20818											
CAPS2	84698	broad.mit.edu	37	chr12	75692696	75692696	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataaattgtaagggattggTcatgagtgaaaaagaaccca	10	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75692696T>C	ENST00000393284.3	-	10	867	c.266A>G	c.(265-267)gAc>gGc	p.D89G	CAPS2_ENST00000409445.3_Missense_Mutation_p.D321G|CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000442339.2_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	321							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AAGGGATTGGTCATGAGTGAA	0.343													False	0	False	12:75692696	0	C	75692696	T	C	75692696	3	2	88	1	0	0	0	0	1	0	0	0	2658	1667	58	4	743	4	CAPS2	12	75692696	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	247817	75692696	58159199	13107	20819											
GLIPR1L1	256710	broad.mit.edu	37	chr12	75763911	75763911	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcacctcagcagacagcCtttaatccattcagcttagg	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75763911C>T	ENST00000312442.2	+	5	703	c.657C>T	c.(655-657)gcC>gcT	p.A219A	GLIPR1L1_ENST00000548623.1_3'UTR|GLIPR1L1_ENST00000378695.4_Silent_p.A228A|CAPS2_ENST00000442339.2_Intron	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	228						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						AGCAGACAGCCTTTAATCCAT	0.313													False	0	True	12:75763911	0	T	75763911	C	T	75763911	2	4	88	1	0	0	0	0	0	0	0	1	6487	668	24	2		2	GLIPR1L1	12	75763911	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71215	75763911	58087984	13108	20820											
GLIPR1	11010	broad.mit.edu	37	chr12	75875790	75875790	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttccgccatcacaaactgGtatgacgaaatccaggacta	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75875790G>A	ENST00000266659.3	+	2	552	c.351G>A	c.(349-351)tgG>tgA	p.W117*		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	117					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TCACAAACTGGTATGACGAAA	0.468													False	0	False	12:75875790	0	A	75875790	G	A	75875790	4	1	88	1	0	0	0	0	0	1	0	0	6486	1270	44	2	357	2	GLIPR1	12	75875790	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111879	75875790	57976105	13109	20821											
NAP1L1	4673	broad.mit.edu	37	chr12	76442238	76442238	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgcactctgctgggttttGatccttctgttaaaggaaaa	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76442238G>A	ENST00000261182.8	-	15	1633	c.1147C>T	c.(1147-1149)Caa>Taa	p.Q383*	NAP1L1_ENST00000431879.3_Nonsense_Mutation_p.Q315*|NAP1L1_ENST00000542344.1_Nonsense_Mutation_p.Q341*|NAP1L1_ENST00000547773.1_Nonsense_Mutation_p.Q320*|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.Q383*|NAP1L1_ENST00000544816.1_Nonsense_Mutation_p.Q200*	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	383					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GCTGGGTTTTGATCCTTCTGT	0.388													False	0	True	12:76442238	0	A	76442238	G	A	76442238	4	1	88	1	0	0	0	0	0	1	0	0	10223	1299	45	2	32	2	NAP1L1	12	76442238	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	566448	76442238	57409657	13110	20822											
BBS10	79738	broad.mit.edu	37	chr12	76740146	76740146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaattgttcttgagtAatggttcataataatcagtt	9	4	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76740146A>G	ENST00000393262.3	-	2	1702	c.1619T>C	c.(1618-1620)tTa>tCa	p.L540S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	540					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTTCTTGAGTAATGGTTCATA	0.363									Bardet-Biedl syndrome				False	0	False	12:76740146	0	G	76740146	A	G	76740146	3	3	88	1	0	0	0	0	1	0	0	0	1340	372	13	4	556	4	BBS10	12	76740146	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	297908	76740146	57111749	13111	20823											
BBS10	79738	broad.mit.edu	37	chr12	76740403	76740403	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatctggtgcttgataActttctccactgttcttata	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76740403A>C	ENST00000393262.3	-	2	1445	c.1362T>G	c.(1360-1362)agT>agG	p.S454R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	454					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTGCTTGATAACTTTCTCCAC	0.348									Bardet-Biedl syndrome				False	0	False	12:76740403	0	C	76740403	A	C	76740403	3	2	88	1	0	0	0	0	1	0	0	0	1340	40	2	4	813	4	BBS10	12	76740403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	257	76740403	57111492	13112	20824											
BBS10	79738	broad.mit.edu	37	chr12	76742101	76742101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggccacctgcaacgccGccttcacagaccctgcagcg	9	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76742101G>A	ENST00000393262.3	-	1	121	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	13					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTGCAACGCCGCCTTCACAGA	0.612									Bardet-Biedl syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:76742101	0	A	76742101	G	A	76742101	3	1	88	1	0	0	0	0	1	0	0	0	1340	1087	38	1	2141	1	BBS10	12	76742101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1698	76742101	57109794	13113	20825											
OSBPL8	114882	broad.mit.edu	37	chr12	76749729	76749729	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaaaatgatgaagtaGtctttttgttgcagaaaata	11	2	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76749729G>T	ENST00000261183.3	-	24	3089	c.2610C>A	c.(2608-2610)gaC>gaA	p.D870E	OSBPL8_ENST00000393249.2_Missense_Mutation_p.D828E|OSBPL8_ENST00000393250.4_Missense_Mutation_p.D828E	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	870					lipid transport		lipid binding	p.D870E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGATGAAGTAGTCTTTTTGTT	0.328													False	0	False	12:76749729	0	T	76749729	G	T	76749729	3	4	88	1	0	0	0	0	1	0	0	0	11351	1020	36	3	63	3	OSBPL8	12	76749729	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7628	76749729	57102166	13114	20826											
OSBPL8	114882	broad.mit.edu	37	chr12	76784265	76784265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaggctcaacaggctcagGttcgatatatgagtcatctt	9	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76784265G>A	ENST00000261183.3	-	11	1581	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	OSBPL8_ENST00000393249.2_Missense_Mutation_p.P326S|OSBPL8_ENST00000393250.4_Missense_Mutation_p.P326S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	368					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ACAGGCTCAGGTTCGATATAT	0.393													False	0	False	12:76784265	0	A	76784265	G	A	76784265	3	1	88	1	0	0	0	0	1	0	0	0	11351	1261	44	2	1623	2	OSBPL8	12	76784265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34536	76784265	57067630	13115	20827											
ZDHHC17	23390	broad.mit.edu	37	chr12	77208931	77208931	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttactttatcaggatgtAgatatgatggatcagaatgg	10	3	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77208931A>G	ENST00000426126.2	+	6	1198	c.549A>G	c.(547-549)gtA>gtG	p.V183V	ZDHHC17_ENST00000359019.4_Silent_p.V133V|ZDHHC17_ENST00000334822.5_Silent_p.V183V	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	183					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ATCAGGATGTAGATATGATGG	0.308													False	0	False	12:77208931	0	G	77208931	A	G	77208931	2	3	88	1	0	0	0	0	0	0	0	1	17690	407	15	4		4	ZDHHC17	12	77208931	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	424666	77208931	56642964	13116	20828											
ZDHHC17	23390	broad.mit.edu	37	chr12	77239492	77239492	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatgcctattaacagataCgaaaaccggtgaggtccaaa	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77239492C>T	ENST00000426126.2	+	13	1982	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	ZDHHC17_ENST00000334822.5_Nonsense_Mutation_p.R445*|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	445					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTAACAGATACGAAAACCGGT	0.338													False	0	False	12:77239492	0	T	77239492	C	T	77239492	4	4	88	1	0	0	0	0	0	1	0	0	17690	528	19	1	1383	1	ZDHHC17	12	77239492	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30561	77239492	56612403	13117	20829											
ZDHHC17	23390	broad.mit.edu	37	chr12	77239525	77239525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaaacattgtggtgtgTgcaaccgctgtatagcaaaa	11	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77239525T>C	ENST00000426126.2	+	13	2015	c.1366T>C	c.(1366-1368)Tgc>Cgc	p.C456R	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.C456R|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	456					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTGTGGTGTGTGCAACCGCTG	0.363													False	0	True	12:77239525	0	C	77239525	T	C	77239525	3	2	88	1	0	0	0	0	1	0	0	0	17690	1696	59	4	1416	4	ZDHHC17	12	77239525	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33	77239525	56612370	13118	20830											
ZDHHC17	23390	broad.mit.edu	37	chr12	77244718	77244719	+	Frame_Shift_Ins	INS	-	-	ATACATGAATT													ggactggaccaggcagtataINScaatagaatatgaccaaata							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77244718_77244719insATACATGAATT	ENST00000426126.2	+	17	2501_2502	c.1852_1853insATACATGAATT	c.(1852-1854)acafs	p.T618fs	ZDHHC17_ENST00000334822.5_Frame_Shift_Ins_p.T618fs	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	618					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CAGGCAGTATACAATAGAATAT	0.416													False	0	False	12:77244718	0	ATACATGAATT	77244719	-	ATACATGAATT	77244718	7	5	88	1	0	1	1	0	0	0	0	0	17690	391	14	0	1918	0	ZDHHC17	12	77244718	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	5193	77244718	56607177	13119	20831											
E2F7	144455	broad.mit.edu	37	chr12	77423632	77423632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcatgacaagcgacagCgggccgtcttcatattccct	11	12	2	1	rs140294649		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77423632C>T	ENST00000322886.7	-	10	2098	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	E2F7_ENST00000416496.2_Silent_p.P621P	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	621					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAAGCGACAGCGGGCCGTCTT	0.522													False	0	True	12:77423632	0	T	77423632	C	T	77423632	2	4	88	1	0	0	0	0	0	0	0	1	4902	755	27	1		1	E2F7	12	77423632	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178914	77423632	56428263	13120	20832											
E2F7	144455	broad.mit.edu	37	chr12	77438548	77438548	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctggctcataattctcagaGacttgtcttttctactgttt	6	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77438548G>A	ENST00000322886.7	-	6	1092	c.857C>T	c.(856-858)tCt>tTt	p.S286F	E2F7_ENST00000416496.2_Missense_Mutation_p.S286F	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	286					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AATTCTCAGAGACTTGTCTTT	0.393													False	0	False	12:77438548	0	A	77438548	G	A	77438548	3	1	88	1	0	0	0	0	1	0	0	0	4902	942	33	2	1910	2	E2F7	12	77438548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14916	77438548	56413347	13121	20833											
NAV3	89795	broad.mit.edu	37	chr12	78400927	78400927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctctaaagttccaacaGtaaagcaaaccatttcacct	5	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78400927G>A	ENST00000397909.2	+	8	1782	c.1609G>A	c.(1609-1611)Gta>Ata	p.V537I	NAV3_ENST00000536525.2_Missense_Mutation_p.V537I|NAV3_ENST00000266692.7_Missense_Mutation_p.V537I|NAV3_ENST00000228327.6_Missense_Mutation_p.V537I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	537						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGTTCCAACAGTAAAGCAAAC	0.463										HNSCC(70;0.22)			False	0	False	12:78400927	0	A	78400927	G	A	78400927	3	1	88	1	0	0	0	0	1	0	0	0	10252	1029	36	2	1639	2	NAV3	12	78400927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	962379	78400927	55450968	13122	20834											
NAV3	89795	broad.mit.edu	37	chr12	78510602	78510602	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcagtgacacccttgataAcatcagcactgatgacctga	7	12	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78510602A>C	ENST00000397909.2	+	13	2860	c.2687A>C	c.(2686-2688)aAc>aCc	p.N896T	NAV3_ENST00000536525.2_Missense_Mutation_p.N896T|NAV3_ENST00000266692.7_Missense_Mutation_p.N896T|NAV3_ENST00000228327.6_Missense_Mutation_p.N896T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	896						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCCTTGATAACATCAGCACT	0.478										HNSCC(70;0.22)			False	0	False	12:78510602	0	C	78510602	A	C	78510602	3	2	88	1	0	0	0	0	1	0	0	0	10252	43	2	4	2737	4	NAV3	12	78510602	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	109675	78510602	55341293	13123	20835											
NAV3	89795	broad.mit.edu	37	chr12	78531042	78531042	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagcccaagactcttccttCgatctctatgatgactccca	5	16	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78531042C>T	ENST00000397909.2	+	19	4700	c.4527C>T	c.(4525-4527)ttC>ttT	p.F1509F	NAV3_ENST00000536525.2_Silent_p.F1509F|NAV3_ENST00000266692.7_Silent_p.F1332F|NAV3_ENST00000228327.6_Silent_p.F1509F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1509	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTCTTCCTTCGATCTCTATG	0.502										HNSCC(70;0.22)			False	0	True	12:78531042	0	T	78531042	C	T	78531042	2	4	88	1	0	0	0	0	0	0	0	1	10252	883	31	1		1	NAV3	12	78531042	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20440	78531042	55320853	13124	20836											
NAV3	89795	broad.mit.edu	37	chr12	78531121	78531121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccatcagtcattcgggcTcattcagagacagcatggaa	11	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78531121T>C	ENST00000397909.2	+	19	4779	c.4606T>C	c.(4606-4608)Tca>Cca	p.S1536P	NAV3_ENST00000536525.2_Missense_Mutation_p.S1536P|NAV3_ENST00000266692.7_Missense_Mutation_p.S1359P|NAV3_ENST00000228327.6_Missense_Mutation_p.S1536P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1536	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCATTCGGGCTCATTCAGAGA	0.488										HNSCC(70;0.22)			False	0	False	12:78531121	0	C	78531121	T	C	78531121	3	2	88	1	0	0	0	0	1	0	0	0	10252	1551	54	4	4680	4	NAV3	12	78531121	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79	78531121	55320774	13125	20837											
NAV3	89795	broad.mit.edu	37	chr12	78571064	78571064	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgactgtggctcagcAtccatgaagccctcacaatc	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78571064A>G	ENST00000397909.2	+	27	5441	c.5268A>G	c.(5266-5268)gcA>gcG	p.A1756A	NAV3_ENST00000536525.2_Silent_p.A1756A|NAV3_ENST00000266692.7_Silent_p.A1579A|NAV3_ENST00000228327.6_Silent_p.A1756A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1756						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTGGCTCAGCATCCATGAAGC	0.433										HNSCC(70;0.22)			False	0	False	12:78571064	0	G	78571064	A	G	78571064	2	3	88	1	0	0	0	0	0	0	0	1	10252	204	8	4		4	NAV3	12	78571064	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39943	78571064	55280831	13126	20838											
NAV3	89795	broad.mit.edu	37	chr12	78583834	78583834	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaccaattacccaaaggtaCtttaacttgttgatggagca	7	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78583834C>A	ENST00000397909.2	+	34	6299	c.6126C>A	c.(6124-6126)taC>taA	p.Y2042*	NAV3_ENST00000536525.2_Nonsense_Mutation_p.Y2020*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.Y1843*|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Y2020*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2042						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCAAAGGTACTTTAACTTGT	0.358										HNSCC(70;0.22)			False	0	True	12:78583834	0	A	78583834	C	A	78583834	4	1	88	1	0	0	0	0	0	1	0	0	10252	576	20	3	6190	3	NAV3	12	78583834	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12770	78583834	55268061	13127	20839											
NAV3	89795	broad.mit.edu	37	chr12	78604210	78604210	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaaactccaagaagcagcCaattactcgagcacacaaag	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78604210C>A	ENST00000397909.2	+	40	7244	c.7071C>A	c.(7069-7071)gcC>gcA	p.A2357A	NAV3_ENST00000536525.2_Silent_p.A2335A|NAV3_ENST00000541270.1_Silent_p.A187A|NAV3_ENST00000266692.7_Silent_p.A2158A|NAV3_ENST00000228327.6_Silent_p.A2335A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2357						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGAAGCAGCCAATTACTCGA	0.418										HNSCC(70;0.22)			False	0	False	12:78604210	0	A	78604210	C	A	78604210	2	1	88	1	0	0	0	0	0	0	0	1	10252	581	21	3		3	NAV3	12	78604210	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20376	78604210	55247685	13128	20840											
MYF6	4618	broad.mit.edu	37	chr12	81102007	81102007	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcagctacagacccaAacaagaaaatgtaagcctag	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81102007A>C	ENST00000228641.3	+	1	731	c.509A>C	c.(508-510)aAa>aCa	p.K170T		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	170					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TACAGACCCAAACAAGAAAAT	0.562													False	0	True	12:81102007	0	C	81102007	A	C	81102007	3	2	88	1	0	0	0	0	1	0	0	0	10095	14	1	4	511	4	MYF6	12	81102007	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2497797	81102007	52749888	13129	20841											
MYF5	4617	broad.mit.edu	37	chr12	81111163	81111163	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggctttcgaaaccctcaaGaggtgtaccacgaccaaccc	8	15	1	1	rs138763221		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111163G>T	ENST00000228644.3	+	1	473	c.321G>T	c.(319-321)aaG>aaT	p.K107N		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	107	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AAACCCTCAAGAGGTGTACCA	0.597													False	0	False	12:81111163	0	T	81111163	G	T	81111163	3	4	88	1	0	0	0	0	1	0	0	0	10094	933	33	3	323	3	MYF5	12	81111163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9156	81111163	52740732	13130	20842											
MYF5	4617	broad.mit.edu	37	chr12	81111216	81111216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccaaggtggagatcctcaGgaatgccatccgctacatcg	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111216G>A	ENST00000228644.3	+	1	526	c.374G>A	c.(373-375)aGg>aAg	p.R125K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	125	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GAGATCCTCAGGAATGCCATC	0.597													False	0	False	12:81111216	0	A	81111216	G	A	81111216	3	1	88	1	0	0	0	0	1	0	0	0	10094	1000	35	2	376	2	MYF5	12	81111216	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53	81111216	52740679	13131	20843											
MYF5	4617	broad.mit.edu	37	chr12	81111235	81111235	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaatgccatccgctacatCgagagcctgcaggagttgct	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111235C>T	ENST00000228644.3	+	1	545	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	131	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCCGCTACATCGAGAGCCTGC	0.592													False	0	False	12:81111235	0	T	81111235	C	T	81111235	2	4	88	1	0	0	0	0	0	0	0	1	10094	874	31	1		1	MYF5	12	81111235	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	81111235	52740660	13132	20844											
ACSS3	79611	broad.mit.edu	37	chr12	81472066	81472066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggatgcagggcactgtcctCcggcagtggcagcgagtaca	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81472066C>T	ENST00000548058.1	+	1	1077	c.167C>T	c.(166-168)tCc>tTc	p.S56F	ACSS3_ENST00000261206.3_Missense_Mutation_p.S56F			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	56						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCACTGTCCTCCGGCAGTGGC	0.711													False	0	False	12:81472066	0	T	81472066	C	T	81472066	3	4	88	1	0	0	0	0	1	0	0	0	190	855	30	2	169	2	ACSS3	12	81472066	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	360831	81472066	52379829	13133	20845											
ACSS3	79611	broad.mit.edu	37	chr12	81536950	81536950	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agagatggcaaaagcccagtCacatgactgtgttcctgttc	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81536950C>T	ENST00000548058.1	+	5	1755	c.845C>T	c.(844-846)tCa>tTa	p.S282L	ACSS3_ENST00000261206.3_Missense_Mutation_p.S281L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	282						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AAAGCCCAGTCACATGACTGT	0.438													False	0	False	12:81536950	0	T	81536950	C	T	81536950	3	4	88	1	0	0	0	0	1	0	0	0	190	838	29	2	863	2	ACSS3	12	81536950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64884	81536950	52314945	13134	20846											
PPFIA2	8499	broad.mit.edu	37	chr12	81660794	81660794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattctctttcaagaatctgCcttgcctgttgacgtcaaat	6	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81660794C>A	ENST00000550584.2	-	29	3787	c.3492G>T	c.(3490-3492)agG>agT	p.R1164S	PPFIA2_ENST00000550359.2_Missense_Mutation_p.R1011S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R1158S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R1063S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R700S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R1152S|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R1164S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R350S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R1149S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R1059S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R1143S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1063										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CAAGAATCTGCCTTGCCTGTT	0.358													False	0	True	12:81660794	0	A	81660794	C	A	81660794	3	1	88	1	0	0	0	0	1	0	0	0	12379	753	26	3	293	3	PPFIA2	12	81660794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123844	81660794	52191101	13135	20847											
PPFIA2	8499	broad.mit.edu	37	chr12	81661781	81661781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagtgagccatgcacaccGctctcaagtatattatttgc	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81661781G>A	ENST00000550584.2	-	28	3691	c.3396C>T	c.(3394-3396)agC>agT	p.S1132S	PPFIA2_ENST00000550359.2_Silent_p.S979S|PPFIA2_ENST00000548586.1_Silent_p.S1126S|PPFIA2_ENST00000407050.4_Silent_p.S1031S|PPFIA2_ENST00000541570.2_Silent_p.S668S|PPFIA2_ENST00000333447.7_Silent_p.S1120S|PPFIA2_ENST00000549396.1_Silent_p.S1132S|PPFIA2_ENST00000541017.1_Silent_p.S318S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Silent_p.S1117S|PPFIA2_ENST00000443686.3_Silent_p.S1027S|PPFIA2_ENST00000552948.1_Silent_p.S1111S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1031										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CATGCACACCGCTCTCAAGTA	0.428													False	0	False	12:81661781	0	A	81661781	G	A	81661781	2	1	88	1	0	0	0	0	0	0	0	1	12379	1078	38	1		1	PPFIA2	12	81661781	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	987	81661781	52190114	13136	20848											
PPFIA2	8499	broad.mit.edu	37	chr12	81732974	81732974	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacggagctgcccaagtcGagctttttcttttttaccaa	7	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81732974G>A	ENST00000550584.2	-	20	2828	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R692*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R771*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R412*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R62*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R746*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R845*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	771								p.R845*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGCCCAAGTCGAGCTTTTTCT	0.413													False	0	False	12:81732974	0	A	81732974	G	A	81732974	4	1	88	1	0	0	0	0	0	1	0	0	12379	1066	37	1	1288	1	PPFIA2	12	81732974	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71193	81732974	52118921	13137	20849											
TMTC2	160335	broad.mit.edu	37	chr12	83290240	83290240	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctagtatgggcttctgccTactgattacagtgggtgcta	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:83290240T>G	ENST00000549919.1	+	4	3085	c.1280T>G	c.(1279-1281)cTa>cGa	p.L427R	TMTC2_ENST00000548305.1_Missense_Mutation_p.L433R|TMTC2_ENST00000321196.3_Missense_Mutation_p.L433R			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	433						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGCTTCTGCCTACTGATTACA	0.393													False	0	False	12:83290240	0	G	83290240	T	G	83290240	3	3	88	1	0	0	0	0	1	0	0	0	16343	1522	53	4	1308	4	TMTC2	12	83290240	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1557266	83290240	50561655	13138	20850											
SLC6A15	55117	broad.mit.edu	37	chr12	85255611	85255611	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccctctaagttcacaggctCtttcaggacccttcctctct	6	16	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85255611C>A	ENST00000266682.5	-	12	2534	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.E558*	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	665					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTCACAGGCTCTTTCAGGACC	0.413													False	0	True	12:85255611	0	A	85255611	C	A	85255611	4	1	88	1	0	0	0	0	0	1	0	0	14758	922	32	3	203	3	SLC6A15	12	85255611	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1965371	85255611	48596284	13139	20851											
LRRIQ1	84125	broad.mit.edu	37	chr12	85449460	85449460	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagctaaatataaagcaTttgttgcctatcaaaaatat	4	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85449460T>G	ENST00000393217.2	+	8	950	c.889T>G	c.(889-891)Ttt>Gtt	p.F297V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	297	Glu-rich.|IQ 1.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATATAAAGCATTTGTTGCCTA	0.299													False	0	True	12:85449460	0	G	85449460	T	G	85449460	3	3	88	1	0	0	0	0	1	0	0	0	9091	1493	52	4	915	4	LRRIQ1	12	85449460	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	193849	85449460	48402435	13140	20852											
LRRIQ1	84125	broad.mit.edu	37	chr12	85531680	85531680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgacaacagctctagaggCtattaagaatgaagaatccg	9	8	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85531680C>A	ENST00000393217.2	+	19	4323	c.4262C>A	c.(4261-4263)gCt>gAt	p.A1421D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1421	IQ 3.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCTCTAGAGGCTATTAAGAAT	0.308													False	0	False	12:85531680	0	A	85531680	C	A	85531680	3	1	88	1	0	0	0	0	1	0	0	0	9091	797	28	3	4336	3	LRRIQ1	12	85531680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82220	85531680	48320215	13141	20853											
LRRIQ1	84125	broad.mit.edu	37	chr12	85623425	85623425	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	actagttccagaaatatgaaAtggtgaggtcatttcctcta	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85623425A>T	ENST00000393217.2	+	25	5014	c.4953A>T	c.(4951-4953)aaA>aaT	p.K1651N	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1651										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAATATGAAATGGTGAGGTC	0.338													False	0	True	12:85623425	0	T	85623425	A	T	85623425	3	4	88	1	0	0	0	0	1	0	0	0	9091	98	4	5	5051	5	LRRIQ1	12	85623425	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91745	85623425	48228470	13142	20854											
ALX1	8092	broad.mit.edu	37	chr12	85695100	85695100	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccagttcagccacgtgccCctcaacaattttttcactga	5	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85695100C>A	ENST00000316824.3	+	4	983	c.828C>A	c.(826-828)ccC>ccA	p.P276P		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	276					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P276P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCCACGTGCCCCTCAACAATT	0.478													False	0	True	12:85695100	0	A	85695100	C	A	85695100	2	1	88	1	0	0	0	0	0	0	0	1	556	610	22	3		3	ALX1	12	85695100	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71675	85695100	48156795	13143	20855											
NTS	4922	broad.mit.edu	37	chr12	86272330	86272330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaatctgtcacagcaggGcttttcaacactgggaggta	10	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:86272330G>A	ENST00000256010.6	+	3	450	c.343G>A	c.(343-345)Gct>Act	p.A115T	NTS_ENST00000551529.1_Intron	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	115					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity			large_intestine(2)|lung(6)	8						TCACAGCAGGGCTTTTCAACA	0.353													False	0	True	12:86272330	0	A	86272330	G	A	86272330	3	1	88	1	0	0	0	0	1	0	0	0	10777	1203	42	2	353	2	NTS	12	86272330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	577230	86272330	47579565	13144	20856											
C12orf50	160419	broad.mit.edu	37	chr12	88380103	88380103	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttacctctctgcattccaGagttaggaaagttctgtggt	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88380103G>T	ENST00000298699.2	-	10	1088	c.908C>A	c.(907-909)tCt>tAt	p.S303Y	C12orf50_ENST00000550553.1_Missense_Mutation_p.S264Y	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	303										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGCATTCCAGAGTTAGGAAA	0.303													False	0	False	12:88380103	0	T	88380103	G	T	88380103	3	4	88	1	0	0	0	0	1	0	0	0	1704	942	33	3	352	3	C12orf50	12	88380103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2107773	88380103	45471792	13145	20857											
C12orf29	91298	broad.mit.edu	37	chr12	88437384	88437384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatattttttagaattttttTggaacgttgaggaggacttc	9	3	0	2	rs74511812		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88437384T>C	ENST00000356891.3	+	4	516	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	105										large_intestine(3)|lung(1)|ovary(1)	5						agaatttttttGGAACGTTGA	0.358													False	0	True	12:88437384	0	C	88437384	T	C	88437384	3	2	88	1	0	0	0	0	1	0	0	0	1689	1812	63	4	327	4	C12orf29	12	88437384	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57281	88437384	45414511	13146	20858											
CEP290	80184	broad.mit.edu	37	chr12	88449353	88449353	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaattacgttacttacCtgttgttcaaggtcttcatt	6	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88449353C>T	ENST00000552810.1	-	50	7303	c.6960G>A	c.(6958-6960)caG>caA	p.Q2320Q	CEP290_ENST00000547691.2_Splice_Site_p.Q1380Q|CEP290_ENST00000309041.7_Splice_Site_p.Q2322Q|CEP290_ENST00000397838.3_Splice_Site_p.Q1380Q	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2320					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CGTTACTTACCTGTTGTTCAA	0.294													False	0	True	12:88449353	0	T	88449353	C	T	88449353	5	4	88	1	0	0	0	0	0	0	1	0	3276	695	24	2	499	2	CEP290	12	88449353	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11969	88449353	45402542	13147	20859											
TMTC3	160418	broad.mit.edu	37	chr12	88566449	88566449	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatttgttgttgccgagCgagtattatatgttcccagc	11	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88566449C>T	ENST00000266712.6	+	8	1346	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	376						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGTTGCCGAGCGAGTATTATA	0.353													False	0	True	12:88566449	0	T	88566449	C	T	88566449	4	4	88	1	0	0	0	0	0	1	0	0	16344	760	27	1	1152	1	TMTC3	12	88566449	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117096	88566449	45285446	13148	20860											
POC1B	282809	broad.mit.edu	37	chr12	89815013	89815013	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctctgtcaaagtcagtcGctgctccaagattgaaacag	8	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89815013G>A	ENST00000393179.4	-	10	1577	c.964C>T	c.(964-966)Cga>Tga	p.R322*	POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000549035.1_Nonsense_Mutation_p.R410*|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000313546.3_Nonsense_Mutation_p.R452*					POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AAAGTCAGTCGCTGCTCCAAG	0.398													False	0	True	12:89815013	0	A	89815013	G	A	89815013	4	1	88	1	0	0	0	0	0	1	0	0	12245	1095	38	1	86	1	POC1B	12	89815013	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1248564	89815013	44036882	13149	20861											
POC1B	282809	broad.mit.edu	37	chr12	89885781	89885781	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctggcgatacatgctccaTacttttatggatttgtcttc	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89885781T>C	ENST00000313546.3	-	4	512	c.384A>G	c.(382-384)gtA>gtG	p.V128V	POC1B_ENST00000378528.2_5'UTR|POC1B_ENST00000549504.1_5'UTR|POC1B_ENST00000541909.1_5'UTR|POC1B_ENST00000549035.1_Silent_p.V86V|POC1B_ENST00000393179.4_5'UTR	NM_172240.2	NP_758440.1			POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						ACATGCTCCATACTTTTATGG	0.418													False	0	False	12:89885781	0	C	89885781	T	C	89885781	2	2	88	1	0	0	0	0	0	0	0	1	12245	1393	49	4		4	POC1B	12	89885781	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	70768	89885781	43966114	13150	20862											
ATP2B1	490	broad.mit.edu	37	chr12	89985005	89985005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtcataaagttgtgaatcGaacttcttgattccggtttt	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89985005G>A	ENST00000428670.3	-	21	3875	c.3419C>T	c.(3418-3420)tCg>tTg	p.S1140L	ATP2B1_ENST00000261173.2_Missense_Mutation_p.S1140L|ATP2B1_ENST00000359142.3_3'UTR|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000393164.2_Missense_Mutation_p.S883L|ATP2B1_ENST00000348959.3_Missense_Mutation_p.S1104L			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1178					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.S1140L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GTTGTGAATCGAACTTCTTGA	0.378													False	0	False	12:89985005	0	A	89985005	G	A	89985005	3	1	88	1	0	0	0	0	1	0	0	0	1143	1059	37	1	247	1	ATP2B1	12	89985005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99224	89985005	43866890	13151	20863											
ATP2B1	490	broad.mit.edu	37	chr12	89996890	89996890	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agattccttcgaatacatttCtttcaccatgaattttccgg	5	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89996890C>A	ENST00000428670.3	-	18	3446	c.2990G>T	c.(2989-2991)aGa>aTa	p.R997I	ATP2B1_ENST00000261173.2_Missense_Mutation_p.R997I|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R997I|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R740I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R997I			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	997					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GAATACATTTCTTTCACCATG	0.348													False	0	True	12:89996890	0	A	89996890	C	A	89996890	3	1	88	1	0	0	0	0	1	0	0	0	1143	913	32	3	846	3	ATP2B1	12	89996890	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11885	89996890	43855005	13152	20864											
ATP2B1	490	broad.mit.edu	37	chr12	90024332	90024332	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcttcctcttcacctccaGctccaagtaaggtaaagata	5	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90024332G>T	ENST00000428670.3	-	6	1334	c.878C>A	c.(877-879)gCt>gAt	p.A293D	ATP2B1_ENST00000261173.2_Missense_Mutation_p.A293D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A293D|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A36D|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A293D			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	293					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ttcACCTCCAGCTCCAAGTAA	0.343													False	0	False	12:90024332	0	T	90024332	G	T	90024332	3	4	88	1	0	0	0	0	1	0	0	0	1143	971	34	3	3006	3	ATP2B1	12	90024332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27442	90024332	43827563	13153	20865											
ATP2B1	490	broad.mit.edu	37	chr12	90024380	90024380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagaatttacacctacaGctgtaactaccattcttcca	4	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90024380G>A	ENST00000428670.3	-	6	1286	c.830C>T	c.(829-831)gCt>gTt	p.A277V	ATP2B1_ENST00000261173.2_Missense_Mutation_p.A277V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.A277V|ATP2B1_ENST00000393164.2_Missense_Mutation_p.A20V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.A277V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	277					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TACACCTACAGCTGTAACTAC	0.363													False	0	False	12:90024380	0	A	90024380	G	A	90024380	3	1	88	1	0	0	0	0	1	0	0	0	1143	971	34	2	3054	2	ATP2B1	12	90024380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	90024380	43827515	13154	20866											
ATP2B1	490	broad.mit.edu	37	chr12	90049503	90049503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaaattccatagacatctCcatagctttcctgtattttt	4	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90049503C>T	ENST00000428670.3	-	2	617	c.161G>A	c.(160-162)gGa>gAa	p.G54E	ATP2B1_ENST00000261173.2_Missense_Mutation_p.G54E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G54E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G54E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	54					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ATAGACATCTCCATAGCTTTC	0.403													False	0	False	12:90049503	0	T	90049503	C	T	90049503	3	4	88	1	0	0	0	0	1	0	0	0	1143	855	30	2	3739	2	ATP2B1	12	90049503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25123	90049503	43802392	13155	20867											
EPYC	1833	broad.mit.edu	37	chr12	91371927	91371927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggggagaagagccatcaAtcagcctgggagtagattcc	13	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91371927A>G	ENST00000261172.3	-	3	370	c.278T>C	c.(277-279)aTt>aCt	p.I93T		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	93					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGAGCCATCAATCAGCCTGGG	0.537											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	12:91371927	0	G	91371927	A	G	91371927	3	3	88	1	0	0	0	0	1	0	0	0	5233	101	4	4	710	4	EPYC	12	91371927	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1322424	91371927	42479968	13156	20868											
KERA	11081	broad.mit.edu	37	chr12	91449450	91449450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggaggcatattcctcagGgcattcttggccatgtttag	11	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449450G>A	ENST00000266719.3	-	2	856	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	203					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TATTCCTCAGGGCATTCTTGG	0.368													False	0	True	12:91449450	0	A	91449450	G	A	91449450	2	1	88	1	0	0	0	0	0	0	0	1	8193	1219	43	2		2	KERA	12	91449450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77523	91449450	42402445	13157	20869											
KERA	11081	broad.mit.edu	37	chr12	91449741	91449741	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaattccgtagttggttatTttgttcttgtttagatttat	7	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449741T>G	ENST00000266719.3	-	2	565	c.318A>C	c.(316-318)aaA>aaC	p.K106N		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	106					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGTTGGTTATTTTGTTCTTGT	0.383													False	0	True	12:91449741	0	G	91449741	T	G	91449741	3	3	88	1	0	0	0	0	1	0	0	0	8193	1838	64	4	748	4	KERA	12	91449741	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	291	91449741	42402154	13158	20870											
KERA	11081	broad.mit.edu	37	chr12	91450049	91450049	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacatgatgaaacagattgTgcctgccattatagcaccta	7	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91450049T>G	ENST00000266719.3	-	2	257	c.10A>C	c.(10-12)Aca>Cca	p.T4P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	4					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AAACAGATTGTGCCTGCCATT	0.358													False	0	True	12:91450049	0	G	91450049	T	G	91450049	3	3	88	1	0	0	0	0	1	0	0	0	8193	1696	59	4	1056	4	KERA	12	91450049	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	308	91450049	42401846	13159	20871											
LUM	4060	broad.mit.edu	37	chr12	91502072	91502072	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgcagatactgcaatgcatTaaaacgcttgaaatactcat	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91502072T>C	ENST00000266718.4	-	2	1139	c.685A>G	c.(685-687)Aat>Gat	p.N229D	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	229					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TGCAATGCATTAAAACGCTTG	0.433													False	0	True	12:91502072	0	C	91502072	T	C	91502072	3	2	88	1	0	0	0	0	1	0	0	0	9147	1754	61	4	339	4	LUM	12	91502072	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52023	91502072	42349823	13160	20872											
DCN	1634	broad.mit.edu	37	chr12	91545540	91545540	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagagagccattgtcaacaGcagagatgctgttgaaactc	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91545540G>T	ENST00000052754.5	-	7	1277	c.776C>A	c.(775-777)gCt>gAt	p.A259D	DCN_ENST00000547568.2_Missense_Mutation_p.A112D|DCN_ENST00000425043.1_Missense_Mutation_p.A112D|DCN_ENST00000456569.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.A150D|DCN_ENST00000441303.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.A259D|DCN_ENST00000228329.5_Missense_Mutation_p.A150D|DCN_ENST00000303320.3_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.A259D	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	259					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATTGTCAACAGCAGAGATGCT	0.473													False	0	False	12:91545540	0	T	91545540	G	T	91545540	3	4	88	1	0	0	0	0	1	0	0	0	4322	971	34	3	311	3	DCN	12	91545540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43468	91545540	42306355	13161	20873											
EEA1	8411	broad.mit.edu	37	chr12	93196191	93196191	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actactaaccaagtctaataTagcggcttttcctttctgat	5	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93196191T>C	ENST00000322349.8	-	19	2923	c.2659A>G	c.(2659-2661)Ata>Gta	p.I887V		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	887					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AAGTCTAATATAGCGGCTTTT	0.289													False	0	False	12:93196191	0	C	93196191	T	C	93196191	3	2	88	1	0	0	0	0	1	0	0	0	4951	1406	49	4	1620	4	EEA1	12	93196191	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1650651	93196191	40655704	13162	20874											
EEA1	8411	broad.mit.edu	37	chr12	93206839	93206839	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagtttttgctgcttctgCtgatagtaatagttcggttt	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93206839C>A	ENST00000322349.8	-	16	2224	c.1960G>T	c.(1960-1962)Gca>Tca	p.A654S		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	654	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTGCTTCTGCTGATAGTAAT	0.358													False	0	False	12:93206839	0	A	93206839	C	A	93206839	3	1	88	1	0	0	0	0	1	0	0	0	4951	797	28	3	2331	3	EEA1	12	93206839	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10648	93206839	40645056	13163	20875											
EEA1	8411	broad.mit.edu	37	chr12	93226446	93226446	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctcctttttcacttagttCtacatgtattctatgcagtg	5	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93226446C>T	ENST00000322349.8	-	11	1360	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	366					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCACTTAGTTCTACATGTATT	0.393													False	0	False	12:93226446	0	T	93226446	C	T	93226446	3	4	88	1	0	0	0	0	1	0	0	0	4951	922	32	2	3215	2	EEA1	12	93226446	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19607	93226446	40625449	13164	20876											
CRADD	8738	broad.mit.edu	37	chr12	94072579	94072579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagacaaacaagtactccGctcacttcgcctggagctgg	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94072579G>A	ENST00000542893.2	+	2	347	c.29G>A	c.(28-30)cGc>cAc	p.R10H	CRADD_ENST00000552033.1_Missense_Mutation_p.R10H|CRADD_ENST00000548483.1_Missense_Mutation_p.R10H|CRADD_ENST00000541813.1_Missense_Mutation_p.R10H|CRADD_ENST00000552983.1_Missense_Mutation_p.R10H|CRADD_ENST00000332896.3_Missense_Mutation_p.R10H			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	10	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						CAAGTACTCCGCTCACTTCGC	0.483													False	0	False	12:94072579	0	A	94072579	G	A	94072579	3	1	88	1	0	0	0	0	1	0	0	0	3868	1087	38	1	31	1	CRADD	12	94072579	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	846133	94072579	39779316	13165	20877											
CRADD	8738	broad.mit.edu	37	chr12	94072626	94072626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtattggtggagggactgGttcttcagtacctctaccag	13	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94072626G>A	ENST00000542893.2	+	2	394	c.76G>A	c.(76-78)Gtt>Att	p.V26I	CRADD_ENST00000552033.1_Missense_Mutation_p.V26I|CRADD_ENST00000548483.1_Missense_Mutation_p.V26I|CRADD_ENST00000541813.1_Missense_Mutation_p.V26I|CRADD_ENST00000552983.1_Missense_Mutation_p.V26I|CRADD_ENST00000332896.3_Missense_Mutation_p.V26I			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	26	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GGAGGGACTGGTTCTTCAGTA	0.498													False	0	False	12:94072626	0	A	94072626	G	A	94072626	3	1	88	1	0	0	0	0	1	0	0	0	3868	1261	44	2	78	2	CRADD	12	94072626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	94072626	39779269	13166	20878											
PLXNC1	10154	broad.mit.edu	37	chr12	94673321	94673321	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcggaatatttcagtcaatgTtctcgactgtgacaccattg	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94673321T>C	ENST00000258526.4	+	22	3920	c.3671T>C	c.(3670-3672)gTt>gCt	p.V1224A	PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000547057.1_Missense_Mutation_p.V271A	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1224					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCAGTCAATGTTCTCGACTGT	0.408													False	0	False	12:94673321	0	C	94673321	T	C	94673321	3	2	88	1	0	0	0	0	1	0	0	0	12195	1725	60	4	3757	4	PLXNC1	12	94673321	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	600695	94673321	39178574	13167	20879											
CCDC41	51134	broad.mit.edu	37	chr12	94725559	94725559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtgatacgctcatgaaGcttatgcttttcttccaacc	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94725559G>T	ENST00000397809.5	-	14	2173	c.1624C>A	c.(1624-1626)Ctt>Att	p.L542I	CCDC41_ENST00000339839.5_Missense_Mutation_p.L542I|CCDC41_ENST00000397807.2_Missense_Mutation_p.L509I	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	534										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CGCTCATGAAGCTTATGCTTT	0.378													False	0	False	12:94725559	0	T	94725559	G	T	94725559	3	4	88	1	0	0	0	0	1	0	0	0	2834	971	34	3	497	3	CCDC41	12	94725559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52238	94725559	39126336	13168	20880											
TMCC3	57458	broad.mit.edu	37	chr12	94976014	94976014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacttcttctgcagctgggCgatggagtgagctgatttct	12	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94976014C>T	ENST00000261226.4	-	2	510	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	TMCC3_ENST00000551457.1_Missense_Mutation_p.A96T	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	127						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TGCAGCTGGGCGATGGAGTGA	0.483													False	0	True	12:94976014	0	T	94976014	C	T	94976014	3	4	88	1	0	0	0	0	1	0	0	0	16076	768	27	1	1066	1	TMCC3	12	94976014	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250455	94976014	38875881	13169	20881											
TMCC3	57458	broad.mit.edu	37	chr12	94976125	94976125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atactccgcaacattcccatCgcgcgatgtttgctcaattt	6	13	1	0	rs141857063	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94976125C>T	ENST00000261226.4	-	2	399	c.268G>A	c.(268-270)Gat>Aat	p.D90N	TMCC3_ENST00000551457.1_Missense_Mutation_p.D59N	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	90						integral to membrane		p.D90Y(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACATTCCCATCGCGCGATGTT	0.453													False	0	True	12:94976125	0	T	94976125	C	T	94976125	3	4	88	1	0	0	0	0	1	0	0	0	16076	884	31	1	1177	1	TMCC3	12	94976125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111	94976125	38875770	13170	20882											
NR2C1	7181	broad.mit.edu	37	chr12	95416132	95416132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaattcttcagtgatggtaGcattcatcagtcttaaagct	7	8	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95416132G>T	ENST00000333003.5	-	14	2015	c.1685C>A	c.(1684-1686)gCt>gAt	p.A562D		NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	562					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AGTGATGGTAGCATTCATCAG	0.358													False	0	False	12:95416132	0	T	95416132	G	T	95416132	3	4	88	1	0	0	0	0	1	0	0	0	10690	971	34	3	130	3	NR2C1	12	95416132	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	440007	95416132	38435763	13171	20883											
NR2C1	7181	broad.mit.edu	37	chr12	95422177	95422177	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatacctggactgaagagtActattgccttcaggtaggca	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95422177A>G	ENST00000333003.5	-	12	1847	c.1517T>C	c.(1516-1518)gTa>gCa	p.V506A		NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	506					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						ACTGAAGAGTACTATTGCCTT	0.358													False	0	False	12:95422177	0	G	95422177	A	G	95422177	3	3	88	1	0	0	0	0	1	0	0	0	10690	391	14	4	306	4	NR2C1	12	95422177	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6045	95422177	38429718	13172	20884											
NR2C1	7181	broad.mit.edu	37	chr12	95422292	95422292	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taattttcttctttctgttgAcattttatctttaattaaaa	2	5	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95422292A>T	ENST00000333003.5	-	12	1732	c.1402T>A	c.(1402-1404)Tca>Aca	p.S468T	NR2C1_ENST00000545833.1_Intron	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	468					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTTTCTGTTGACATTTTATCT	0.303													False	0	False	12:95422292	0	T	95422292	A	T	95422292	3	4	88	1	0	0	0	0	1	0	0	0	10690	275	10	5	421	5	NR2C1	12	95422292	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115	95422292	38429603	13173	20885											
NR2C1	7181	broad.mit.edu	37	chr12	95453692	95453692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatgttacctgatgctttGtctccacatactacgcaaag	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95453692G>A	ENST00000333003.5	-	4	684	c.354C>T	c.(352-354)gaC>gaT	p.D118D	NR2C1_ENST00000330677.7_Silent_p.D118D|NR2C1_ENST00000393101.3_Silent_p.D118D|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	118	Required for interaction with KAT2B (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTGATGCTTTGTCTCCACATA	0.313													False	0	True	12:95453692	0	A	95453692	G	A	95453692	2	1	88	1	0	0	0	0	0	0	0	1	10690	1368	48	2		2	NR2C1	12	95453692	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31400	95453692	38398203	13174	20886											
FGD6	55785	broad.mit.edu	37	chr12	95602826	95602826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatattttcatactccggtGcacagaggcttgtaacagac	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95602826G>A	ENST00000343958.4	-	2	2457	c.2234C>T	c.(2233-2235)gCa>gTa	p.A745V	FGD6_ENST00000546711.1_Missense_Mutation_p.A745V|FGD6_ENST00000549499.1_Missense_Mutation_p.A745V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	745					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATACTCCGGTGCACAGAGGCT	0.453													False	0	False	12:95602826	0	A	95602826	G	A	95602826	3	1	88	1	0	0	0	0	1	0	0	0	5877	1319	46	2	2138	2	FGD6	12	95602826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149134	95602826	38249069	13175	20887											
USP44	84101	broad.mit.edu	37	chr12	95922698	95922698	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atatcttttccactgcattgAtacctttctggaaactccaa	4	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95922698A>C	ENST00000258499.3	-	3	1797	c.1509T>G	c.(1507-1509)taT>taG	p.Y503*	USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Nonsense_Mutation_p.Y503*|USP44_ENST00000393091.2_Nonsense_Mutation_p.Y503*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	503					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CACTGCATTGATACCTTTCTG	0.378													False	0	False	12:95922698	0	C	95922698	A	C	95922698	4	2	88	1	0	0	0	0	0	1	0	0	17159	340	12	4	645	4	USP44	12	95922698	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	319872	95922698	37929197	13176	20888											
NTN4	59277	broad.mit.edu	37	chr12	96131853	96131853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgaaggttggtgatcttcaGctgctcctgaactttggcac	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96131853G>T	ENST00000343702.4	-	3	1103	c.655C>A	c.(655-657)Ctg>Atg	p.L219M	NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000344911.4_Missense_Mutation_p.L182M|NTN4_ENST00000553059.1_Missense_Mutation_p.L219M|NTN4_ENST00000538383.1_Missense_Mutation_p.L182M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	219	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTGATCTTCAGCTGCTCCTGA	0.448													False	0	False	12:96131853	0	T	96131853	G	T	96131853	3	4	88	1	0	0	0	0	1	0	0	0	10770	962	34	3	1263	3	NTN4	12	96131853	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209155	96131853	37720042	13177	20889											
HAL	3034	broad.mit.edu	37	chr12	96386496	96386496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgtttgagggtctccaggGaaatgccactgtatcctttg	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96386496G>A	ENST00000261208.3	-	9	1045	c.677C>T	c.(676-678)tCc>tTc	p.S226F	HAL_ENST00000538703.1_Missense_Mutation_p.S226F|HAL_ENST00000541929.1_Missense_Mutation_p.S18F	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	226					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GGTCTCCAGGGAAATGCCACT	0.468													False	0	True	12:96386496	0	A	96386496	G	A	96386496	3	1	88	1	0	0	0	0	1	0	0	0	6994	1174	41	2	1348	2	HAL	12	96386496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	254643	96386496	37465399	13178	20890											
LTA4H	4048	broad.mit.edu	37	chr12	96412579	96412579	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaaagtaaggcaaggattctCcatgccaccataagggaagg	11	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96412579C>A	ENST00000228740.2	-	8	955	c.814G>T	c.(814-816)Gag>Tag	p.E272*	LTA4H_ENST00000413268.2_Nonsense_Mutation_p.E248*|LTA4H_ENST00000552789.1_Nonsense_Mutation_p.E248*	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	272	Substrate binding.				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						CAAGGATTCTCCATGCCACCA	0.398													False	0	False	12:96412579	0	A	96412579	C	A	96412579	4	1	88	1	0	0	0	0	0	1	0	0	9131	864	30	3	1069	3	LTA4H	12	96412579	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26083	96412579	37439316	13179	20891											
LTA4H	4048	broad.mit.edu	37	chr12	96412999	96412999	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctttctcagaccacaccaAagttcttgggccaatttgcc	6	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96412999A>G	ENST00000228740.2	-	7	799	c.658T>C	c.(658-660)Ttg>Ctg	p.L220L	LTA4H_ENST00000413268.2_Silent_p.L196L|LTA4H_ENST00000552789.1_Silent_p.L196L	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	220					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						GACCACACCAAAGTTCTTGGG	0.348													False	0	True	12:96412999	0	G	96412999	A	G	96412999	2	3	88	1	0	0	0	0	0	0	0	1	9131	11	1	4		4	LTA4H	12	96412999	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	420	96412999	37438896	13180	20892											
ELK3	2004	broad.mit.edu	37	chr12	96641197	96641197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctctttaatgttgccaaaCgctgccagtatttcatccgc	6	13	2	0	rs142048091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96641197C>T	ENST00000228741.3	+	3	1013	c.687C>T	c.(685-687)aaC>aaT	p.N229N	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	229					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					TGTTGCCAAACGCTGCCAGTA	0.622													False	0	True	12:96641197	0	T	96641197	C	T	96641197	2	4	88	1	0	0	0	0	0	0	0	1	5092	535	19	1		1	ELK3	12	96641197	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228198	96641197	37210698	13181	20893											
NEDD1	121441	broad.mit.edu	37	chr12	97303532	97303532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttaaactatttgtaggcGcagtcatgcaggaaaacctc	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:97303532G>A	ENST00000557644.1	+	2	162	c.16G>A	c.(16-18)Gca>Aca	p.A6T	NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000429527.2_5'UTR|NEDD1_ENST00000411739.2_Intron|NEDD1_ENST00000266742.4_5'UTR	NM_001135175.1	NP_001128647.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	0					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATTTGTAGGCGCAGTCATGCA	0.328													False	0	False	12:97303532	0	A	97303532	G	A	97303532	3	1	88	1	0	0	0	0	1	0	0	0	10377	1087	38	1	22	1	NEDD1	12	97303532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	662335	97303532	36548363	13182	20894											
TMPO	7112	broad.mit.edu	37	chr12	98926730	98926730	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatctccacccgtcctcCtttgggcagtaccgaactac	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98926730C>A	ENST00000266732.4	+	4	933	c.695C>A	c.(694-696)cCt>cAt	p.P232H	TMPO_ENST00000556029.1_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0	NAKAP95-binding N.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACCCGTCCTCCTTTGGGCAGT	0.478													False	0	True	12:98926730	0	A	98926730	C	A	98926730	3	1	88	1	0	0	0	0	1	0	0	0	16319	681	24	3	709	3	TMPO	12	98926730	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1623198	98926730	34925165	13183	20895											
TMPO	7112	broad.mit.edu	37	chr12	98927591	98927591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgccttcactggcatgcaAatatccagtttcttccaggg	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98927591A>G	ENST00000266732.4	+	4	1794	c.1556A>G	c.(1555-1557)aAa>aGa	p.K519R	TMPO_ENST00000556029.1_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTGGCATGCAAATATCCAGTT	0.413													False	0	True	12:98927591	0	G	98927591	A	G	98927591	3	3	88	1	0	0	0	0	1	0	0	0	16319	14	1	4	1570	4	TMPO	12	98927591	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	861	98927591	34924304	13184	20896											
TMPO	7112	broad.mit.edu	37	chr12	98941365	98941365	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caacagtgctagttgccgcaGaccaatcaaaggggctgcag	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98941365G>T	ENST00000556029.1	+	9	1450	c.1094G>T	c.(1093-1095)aGa>aTa	p.R365I	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Missense_Mutation_p.R325I|TMPO_ENST00000393053.2_Missense_Mutation_p.R256I	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	365	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGTTGCCGCAGACCAATCAAA	0.408													False	0	False	12:98941365	0	T	98941365	G	T	98941365	3	4	88	1	0	0	0	0	1	0	0	0	16319	942	33	3	2652	3	TMPO	12	98941365	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13774	98941365	34910530	13185	20897											
APAF1	317	broad.mit.edu	37	chr12	99053094	99053094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggctaaagaccgtctccGcattctgatgcttcgcaaac	9	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99053094G>A	ENST00000357310.1	+	5	1260	c.683G>A	c.(682-684)cGc>cAc	p.R228H	APAF1_ENST00000552268.1_Missense_Mutation_p.R228H|APAF1_ENST00000359972.2_Missense_Mutation_p.R217H|APAF1_ENST00000550527.1_Missense_Mutation_p.R217H|APAF1_ENST00000339433.3_Missense_Mutation_p.R228H|APAF1_ENST00000549007.1_Missense_Mutation_p.R228H|APAF1_ENST00000547045.1_Missense_Mutation_p.R228H|APAF1_ENST00000551964.1_Missense_Mutation_p.R228H|APAF1_ENST00000333991.1_Missense_Mutation_p.R228H	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	228	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GACCGTCTCCGCATTCTGATG	0.453													False	0	False	12:99053094	0	A	99053094	G	A	99053094	3	1	88	1	0	0	0	0	1	0	0	0	757	1087	38	1	697	1	APAF1	12	99053094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111729	99053094	34798801	13186	20898											
APAF1	317	broad.mit.edu	37	chr12	99059345	99059345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaggctctccccttgtaGtatctttaattggtgcactt	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99059345G>A	ENST00000357310.1	+	8	1547	c.970G>A	c.(970-972)Gta>Ata	p.V324I	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.V313I|APAF1_ENST00000550527.1_Missense_Mutation_p.V313I|APAF1_ENST00000339433.3_Missense_Mutation_p.V324I|APAF1_ENST00000549007.1_Missense_Mutation_p.V324I|APAF1_ENST00000547045.1_Missense_Mutation_p.V324I|APAF1_ENST00000551964.1_Missense_Mutation_p.V324I|APAF1_ENST00000333991.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	324	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCCCCTTGTAGTATCTTTAAT	0.343													False	0	False	12:99059345	0	A	99059345	G	A	99059345	3	1	88	1	0	0	0	0	1	0	0	0	757	1029	36	2	996	2	APAF1	12	99059345	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6251	99059345	34792550	13187	20899											
APAF1	317	broad.mit.edu	37	chr12	99074166	99074166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttatagcaacctgctcagtgGataaaaaagtgaaggtagga	11	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99074166G>A	ENST00000357310.1	+	14	2609	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.D667N|APAF1_ENST00000550527.1_Missense_Mutation_p.D667N|APAF1_ENST00000339433.3_Missense_Mutation_p.D678N|APAF1_ENST00000549007.1_Missense_Mutation_p.D678N|APAF1_ENST00000547045.1_Missense_Mutation_p.D678N|APAF1_ENST00000551964.1_Missense_Mutation_p.D678N|APAF1_ENST00000333991.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	678					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CTGCTCAGTGGATAAAAAAGT	0.363													False	0	False	12:99074166	0	A	99074166	G	A	99074166	3	1	88	1	0	0	0	0	1	0	0	0	757	1174	41	2	2082	2	APAF1	12	99074166	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14821	99074166	34777729	13188	20900											
ANKS1B	56899	broad.mit.edu	37	chr12	99548174	99548174	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggacagggcatctgggtcCtgtaagaggatgaagaggga	17	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99548174C>A	ENST00000550693.2	-	1	350	c.97G>T	c.(97-99)Gga>Tga	p.G33*	ANKS1B_ENST00000549025.2_Splice_Site|ANKS1B_ENST00000547446.1_Splice_Site|ANKS1B_ENST00000549493.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000549558.2_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000546568.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000547776.2_Splice_Site|ANKS1B_ENST00000546960.1_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000332712.7_Nonsense_Mutation_p.G33*|ANKS1B_ENST00000547010.1_Splice_Site	NM_001204069.1|NM_001204070.1	NP_001190998.1|NP_001190999.1	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	807						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CATCTGGGTCCTGTAAGAGGA	0.532													False	0	False	12:99548174	0	A	99548174	C	A	99548174	4	1	88	1	0	0	0	0	0	1	0	0	689	695	24	3	1566	3	ANKS1B	12	99548174	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	474008	99548174	34303721	13189	20901											
ANKS1B	56899	broad.mit.edu	37	chr12	99837462	99837462	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttacctggggtcgaaTgacttttacaatatttttga	9	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99837462T>C	ENST00000547776.2	-	11	1563	c.1564A>G	c.(1564-1566)Att>Gtt	p.I522V	ANKS1B_ENST00000329257.7_Missense_Mutation_p.I522V|ANKS1B_ENST00000547010.1_Missense_Mutation_p.I102V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	522						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGGGGTCGAATGACTTTTACA	0.423													False	0	False	12:99837462	0	C	99837462	T	C	99837462	3	2	88	1	0	0	0	0	1	0	0	0	689	1464	51	4	2534	4	ANKS1B	12	99837462	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	289288	99837462	34014433	13190	20902											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100444940	100444940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accataattctgtaggtttgCaccagcattcacactttctg	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100444940C>T	ENST00000279907.7	-	16	3696	c.3484G>A	c.(3484-3486)Gca>Aca	p.A1162T	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A812T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1162										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTAGGTTTGCACCAGCATTC	0.353													False	0	False	12:100444940	0	T	100444940	C	T	100444940	3	4	88	1	0	0	0	0	1	0	0	0	17053	710	25	2	934	2	UHRF1BP1L	12	100444940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	607478	100444940	33406955	13191	20903											
GOLGA2B	0	broad.mit.edu	37	chr12	100550600	100550600	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactgctggcaaggctcacCtcacaaagatctttggagag	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100550600C>A	ENST00000397112.4	-	0	2221					NR_036632.1															large_intestine(1)|lung(3)	4						CAAGGCTCACCTCACAAAGAT	0.597													False	0	True	12:100550600	0	A	100550600	C	A	100550600	1	1	88	0	1	0	0	0	0	0	0	0	6598	696	24	3		3	GOLGA2B	12	100550600	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105660	100550600	33301295	13192	20904											
DEPDC4	120863	broad.mit.edu	37	chr12	100656045	100656045	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taatgaaaacaaattaccttCttttgaaagccggagaaaag	7	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100656045C>T	ENST00000416321.1	-	3	699	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	233					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AAATTACCTTCTTTTGAAAGC	0.338													False	0	True	12:100656045	0	T	100656045	C	T	100656045	3	4	88	1	0	0	0	0	1	0	0	0	4471	922	32	2	199	2	DEPDC4	12	100656045	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105445	100656045	33195850	13193	20905											
SCYL2	55681	broad.mit.edu	37	chr12	100707216	100707216	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atagttgagtcgtttaggatCtagttcacttacaaatatac	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100707216C>A	ENST00000360820.2	+	7	1306	c.869C>A	c.(868-870)tCt>tAt	p.S290Y		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	290	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CGTTTAGGATCTAGTTCACTT	0.294													False	0	False	12:100707216	0	A	100707216	C	A	100707216	3	1	88	1	0	0	0	0	1	0	0	0	14029	913	32	3	891	3	SCYL2	12	100707216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51171	100707216	33144679	13194	20906											
SCYL2	55681	broad.mit.edu	37	chr12	100723037	100723037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccaaagagcagctggcCggaaaagtgttgcctcatct	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100723037C>T	ENST00000360820.2	+	13	2138	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	567					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AGCAGCTGGCCGGAAAAGTGT	0.328													False	0	False	12:100723037	0	T	100723037	C	T	100723037	2	4	88	1	0	0	0	0	0	0	0	1	14029	639	23	1		1	SCYL2	12	100723037	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15821	100723037	33128858	13195	20907											
SLC17A8	246213	broad.mit.edu	37	chr12	100797876	100797876	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttgtacctattggaggaCaattggctgattatttaaga	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100797876C>T	ENST00000323346.5	+	9	1427	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.Q322*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	372					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TATTGGAGGACAATTGGCTGA	0.408													False	0	False	12:100797876	0	T	100797876	C	T	100797876	4	4	88	1	0	0	0	0	0	1	0	0	14504	479	17	2	1148	2	SLC17A8	12	100797876	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74839	100797876	33054019	13196	20908											
SLC17A8	246213	broad.mit.edu	37	chr12	100806634	100806634	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttctggtacttgctgtaGgatttagtggcttcgctatt	10	8	1	0	rs144447013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100806634G>T	ENST00000323346.5	+	10	1586	c.1273G>T	c.(1273-1275)Gga>Tga	p.G425*	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Nonsense_Mutation_p.G375*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	425					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ACTTGCTGTAGGATTTAGTGG	0.453													False	0	False	12:100806634	0	T	100806634	G	T	100806634	4	4	88	1	0	0	0	0	0	1	0	0	14504	1001	35	3	1311	3	SLC17A8	12	100806634	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8758	100806634	33045261	13197	20909											
NR1H4	9971	broad.mit.edu	37	chr12	100930822	100930822	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagaattcacaaaaaagctaCcaggtattttttaaataatc	4	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100930822C>A	ENST00000548884.1	+	8	1457	c.916C>A	c.(916-918)Cca>Aca	p.P306T	NR1H4_ENST00000392986.3_Missense_Mutation_p.P310T|NR1H4_ENST00000551379.1_Missense_Mutation_p.P320T|NR1H4_ENST00000549996.1_Missense_Mutation_p.P259T|NR1H4_ENST00000188403.7_Missense_Mutation_p.P316T	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	320	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						AAAAAAGCTACCAGGTATTTT	0.284													False	0	False	12:100930822	0	A	100930822	C	A	100930822	3	1	88	1	0	0	0	0	1	0	0	0	10687	507	18	3	938	3	NR1H4	12	100930822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124188	100930822	32921073	13198	20910											
GAS2L3	283431	broad.mit.edu	37	chr12	101016096	101016096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttgtagttgttctcatcGattttctattgagtatttat	6	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101016096G>A	ENST00000537247.1	+	9	1334	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	GAS2L3_ENST00000539410.1_Missense_Mutation_p.R231Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	231	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTTCTCATCGATTTTCTATT	0.318													False	0	False	12:101016096	0	A	101016096	G	A	101016096	3	1	88	1	0	0	0	0	1	0	0	0	6291	1058	37	1	718	1	GAS2L3	12	101016096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85274	101016096	32835799	13199	20911											
GAS2L3	283431	broad.mit.edu	37	chr12	101017454	101017454	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttgccacattagaacaaAaaattttagcatttcaaaaa	4	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101017454A>C	ENST00000537247.1	+	10	1513	c.559A>C	c.(559-561)Aaa>Caa	p.K187Q	GAS2L3_ENST00000539410.1_Missense_Mutation_p.K291Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.K291Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.K291Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	291					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						ATTAGAACAAAAAATTTTAGC	0.403													False	0	True	12:101017454	0	C	101017454	A	C	101017454	3	2	88	1	0	0	0	0	1	0	0	0	6291	15	1	4	901	4	GAS2L3	12	101017454	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1358	101017454	32834441	13200	20912											
GAS2L3	283431	broad.mit.edu	37	chr12	101017514	101017514	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctgattcgcctgccagaAcacctcagcctcctgaaatg	7	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101017514A>C	ENST00000537247.1	+	10	1573	c.619A>C	c.(619-621)Aca>Cca	p.T207P	GAS2L3_ENST00000539410.1_Missense_Mutation_p.T311P|GAS2L3_ENST00000547754.1_Missense_Mutation_p.T311P|GAS2L3_ENST00000266754.5_Missense_Mutation_p.T311P			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	311					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCTGCCAGAACACCTCAGCC	0.383													False	0	False	12:101017514	0	C	101017514	A	C	101017514	3	2	88	1	0	0	0	0	1	0	0	0	6291	43	2	4	961	4	GAS2L3	12	101017514	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60	101017514	32834381	13201	20913											
ANO4	121601	broad.mit.edu	37	chr12	101295517	101295517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtcacgtcgtcgcctgcCtgtggtcaggcattcctcac	11	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101295517C>T	ENST00000538618.1	+	4	452	c.452C>T	c.(451-453)cCt>cTt	p.P151L	ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CGTCGCCTGCCTGTGGTCAGG	0.498										HNSCC(74;0.22)			False	0	True	12:101295517	0	T	101295517	C	T	101295517	3	4	88	1	0	0	0	0	1	0	0	0	699	696	24	2		2	ANO4	12	101295517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278003	101295517	32556378	13202	20914											
ANO4	121601	broad.mit.edu	37	chr12	101295607	101295607	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cactaatggaaaaaccaaagTcttccacccaggtgatgcat	7	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101295607T>G	ENST00000392979.3	+	2	405	c.44T>G	c.(43-45)gTc>gGc	p.V15G	ANO4_ENST00000392977.3_Missense_Mutation_p.V15G|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.V181G	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	15						chloride channel complex	chloride channel activity	p.V15D(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAAACCAAAGTCTTCCACCCA	0.468										HNSCC(74;0.22)			False	0	False	12:101295607	0	G	101295607	T	G	101295607	3	3	88	1	0	0	0	0	1	0	0	0	699	1667	58	4	46	4	ANO4	12	101295607	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	90	101295607	32556288	13203	20915											
ANO4	121601	broad.mit.edu	37	chr12	101336210	101336210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttcgagatggaaagtgtcGaattgactacatccttgtgt	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101336210G>A	ENST00000392979.3	+	4	609	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	ANO4_ENST00000392977.3_Missense_Mutation_p.R118Q|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.R284Q	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	118						chloride channel complex	chloride channel activity	p.R83L(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGAAAGTGTCGAATTGACTAC	0.378										HNSCC(74;0.22)			False	0	False	12:101336210	0	A	101336210	G	A	101336210	3	1	88	1	0	0	0	0	1	0	0	0	699	1058	37	1	258	1	ANO4	12	101336210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40603	101336210	32515685	13204	20916											
ANO4	121601	broad.mit.edu	37	chr12	101436160	101436160	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattttgcctggttgggctgGtacaccggcatgctcttccc	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101436160G>A	ENST00000392979.3	+	11	1324	c.963G>A	c.(961-963)tgG>tgA	p.W321*	ANO4_ENST00000392977.3_Nonsense_Mutation_p.W356*|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	356						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGTTGGGCTGGTACACCGGCA	0.483										HNSCC(74;0.22)			False	0	False	12:101436160	0	A	101436160	G	A	101436160	4	1	88	1	0	0	0	0	0	1	0	0	699	1270	44	2	1001	2	ANO4	12	101436160	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99950	101436160	32415735	13205	20917											
SLC5A8	160728	broad.mit.edu	37	chr12	101560474	101560474	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccatcagaccaacaagtgCtccctgtaaaacaagaatgc	7	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101560474C>A	ENST00000536262.2	-	12	1882	c.1324G>T	c.(1324-1326)Gca>Tca	p.A442S		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	442					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAACAAGTGCTCCCTGTAAA	0.368													False	0	False	12:101560474	0	A	101560474	C	A	101560474	3	1	88	1	0	0	0	0	1	0	0	0	14751	797	28	3	524	3	SLC5A8	12	101560474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124314	101560474	32291421	13206	20918											
SLC5A8	160728	broad.mit.edu	37	chr12	101576692	101576692	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attaatactggaggacactgTgctgtaagggaaaataaaac	10	5	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101576692T>C	ENST00000536262.2	-	9	1612	c.1054A>G	c.(1054-1056)Aca>Gca	p.T352A		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	352					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGGACACTGTGCTGTAAGGG	0.348													False	0	False	12:101576692	0	C	101576692	T	C	101576692	5	2	88	1	0	0	0	0	0	0	1	0	14751	1710	59	4	806	4	SLC5A8	12	101576692	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16218	101576692	32275203	13207	20919											
SLC5A8	160728	broad.mit.edu	37	chr12	101584320	101584320	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgacaccgtagatgctggtCcatgtgaaggtccctcctat	10	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101584320C>T	ENST00000536262.2	-	6	1317	c.759G>A	c.(757-759)tgG>tgA	p.W253*		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	253					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGATGCTGGTCCATGTGAAGG	0.393													False	0	False	12:101584320	0	T	101584320	C	T	101584320	4	4	88	1	0	0	0	0	0	1	0	0	14751	856	30	2	1113	2	SLC5A8	12	101584320	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7628	101584320	32267575	13208	20920											
UTP20	27340	broad.mit.edu	37	chr12	101684568	101684568	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaacagaaactcaactaCcatggatgttaattggagaa	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101684568C>A	ENST00000261637.4	+	8	967	c.793C>A	c.(793-795)Cca>Aca	p.P265T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	265					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AACTCAACTACCATGGATGTT	0.353													False	0	False	12:101684568	0	A	101684568	C	A	101684568	3	1	88	1	0	0	0	0	1	0	0	0	17183	507	18	3	823	3	UTP20	12	101684568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100248	101684568	32167327	13209	20921											
UTP20	27340	broad.mit.edu	37	chr12	101689296	101689296	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcatatattgtgaattgCttcttaattgatgatgctgt	8	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101689296C>A	ENST00000261637.4	+	12	1464	c.1290C>A	c.(1288-1290)tgC>tgA	p.C430*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	430					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTGTGAATTGCTTCTTAATTG	0.373													False	0	False	12:101689296	0	A	101689296	C	A	101689296	4	1	88	1	0	0	0	0	0	1	0	0	17183	805	28	3	1336	3	UTP20	12	101689296	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4728	101689296	32162599	13210	20922											
UTP20	27340	broad.mit.edu	37	chr12	101731892	101731892	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatatcctgaccaatgtTtttgcaattctctcagcgaa	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101731892T>G	ENST00000261637.4	+	30	3879	c.3705T>G	c.(3703-3705)gtT>gtG	p.V1235V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1235					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGACCAATGTTTTTGCAATTC	0.408													False	0	True	12:101731892	0	G	101731892	T	G	101731892	2	3	88	1	0	0	0	0	0	0	0	1	17183	1828	64	4		4	UTP20	12	101731892	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42596	101731892	32120003	13211	20923											
UTP20	27340	broad.mit.edu	37	chr12	101760367	101760367	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccccagcaccagatccacgtCtaccaccccagagctgcctt	6	20	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101760367C>T	ENST00000261637.4	+	47	6331	c.6157C>T	c.(6157-6159)Cta>Tta	p.L2053L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2053					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGATCCACGTCTACCACCCCA	0.502													False	0	False	12:101760367	0	T	101760367	C	T	101760367	2	4	88	1	0	0	0	0	0	0	0	1	17183	912	32	2		2	UTP20	12	101760367	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28475	101760367	32091528	13212	20924											
MYBPC1	4604	broad.mit.edu	37	chr12	102040565	102040565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctttgaacacaaaggatgCcagagaatcctgtttatcaa	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102040565C>T	ENST00000549145.1	+	12	1054	c.954C>T	c.(952-954)tgC>tgT	p.C318C	RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000551300.1_Silent_p.C206C|MYBPC1_ENST00000550270.1_Silent_p.C305C|MYBPC1_ENST00000541119.1_Silent_p.C293C|MYBPC1_ENST00000441232.1_Silent_p.C305C|MYBPC1_ENST00000361466.2_Silent_p.C330C|MYBPC1_ENST00000361685.2_Silent_p.C330C|MYBPC1_ENST00000545503.2_Silent_p.C305C|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Silent_p.C286C|MYBPC1_ENST00000392934.3_Silent_p.C292C|MYBPC1_ENST00000360610.2_Silent_p.C305C|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000452455.2_Silent_p.C305C|MYBPC1_ENST00000547405.1_Silent_p.C279C|MYBPC1_ENST00000553190.1_Silent_p.C305C|MYBPC1_ENST00000547509.1_Silent_p.C291C			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	305	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACAAAGGATGCCAGAGAATCC	0.363													False	0	False	12:102040565	0	T	102040565	C	T	102040565	2	4	88	1	0	0	0	0	0	0	0	1	10078	747	26	2		2	MYBPC1	12	102040565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280198	102040565	31811330	13213	20925											
MYBPC1	4604	broad.mit.edu	37	chr12	102056307	102056307	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagcccagtatgccctccaGgccttttgttcctttgggta	9	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102056307G>T	ENST00000549145.1	+	20	2268	c.2168G>T	c.(2167-2169)aGg>aTg	p.R723M	MYBPC1_ENST00000551300.1_Missense_Mutation_p.R611M|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R698M|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R735M|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R691M|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R697M|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R710M|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R684M|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R710M|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R696M			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	710	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGCCCTCCAGGCCTTTTGTT	0.473													False	0	False	12:102056307	0	T	102056307	G	T	102056307	3	4	88	1	0	0	0	0	1	0	0	0	10078	1000	35	3	2286	3	MYBPC1	12	102056307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15742	102056307	31795588	13214	20926											
MYBPC1	4604	broad.mit.edu	37	chr12	102067280	102067280	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaaataaacattcgcaacTctgagactgatacaatcata	4	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102067280T>G	ENST00000549145.1	+	25	2807	c.2707T>G	c.(2707-2709)Tct>Gct	p.S903A	MYBPC1_ENST00000551300.1_Missense_Mutation_p.S773A|MYBPC1_ENST00000550270.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S860A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S890A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S897A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S872A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S853A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S859A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S890A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S846A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S872A|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S858A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	890	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CATTCGCAACTCTGAGACTGA	0.383													False	0	False	12:102067280	0	G	102067280	T	G	102067280	3	3	88	1	0	0	0	0	1	0	0	0	10078	1551	54	4	2845	4	MYBPC1	12	102067280	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10973	102067280	31784615	13215	20927											
CHPT1	56994	broad.mit.edu	37	chr12	102117041	102117041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaactgatgtgtttgaaaaGcatccttgtctttatatcct	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102117041G>A	ENST00000549872.1	+	6	1066	c.876G>A	c.(874-876)aaG>aaA	p.K292K	CHPT1_ENST00000229266.3_Silent_p.K292K			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	292					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGTTTGAAAAGCATCCTTGTC	0.318													False	0	True	12:102117041	0	A	102117041	G	A	102117041	2	1	88	1	0	0	0	0	0	0	0	1	3393	962	34	2		2	CHPT1	12	102117041	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49761	102117041	31734854	13216	20928											
GNPTAB	79158	broad.mit.edu	37	chr12	102158045	102158045	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagtaactatctgtgtAatgctgcagctttcttccaa	7	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102158045A>G	ENST00000299314.7	-	13	2912	c.2650T>C	c.(2650-2652)Tac>Cac	p.Y884H		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	884					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CTATCTGTGTAATGCTGCAGC	0.393													False	0	False	12:102158045	0	G	102158045	A	G	102158045	3	3	88	1	0	0	0	0	1	0	0	0	6590	362	13	4	1156	4	GNPTAB	12	102158045	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41004	102158045	31693850	13217	20929											
GNPTAB	79158	broad.mit.edu	37	chr12	102159023	102159023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggcaggcattcaccttttgGaataatatagtgagtctggt	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102159023G>A	ENST00000299314.7	-	13	1934	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	558					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCACCTTTTGGAATAATATAG	0.358													False	0	False	12:102159023	0	A	102159023	G	A	102159023	3	1	88	1	0	0	0	0	1	0	0	0	6590	1174	41	2	2134	2	GNPTAB	12	102159023	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	978	102159023	31692872	13218	20930											
PAH	5053	broad.mit.edu	37	chr12	103238180	103238180	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggagtctccttgtttgcaGagcccaaactccacagtaaa	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103238180G>T	ENST00000553106.1	-	10	1471	c.999C>A	c.(997-999)ctC>ctA	p.L333L	PAH_ENST00000307000.2_Silent_p.L328L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	333			L -> F (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTGTTTGCAGAGCCCAAACT	0.423													False	0	False	12:103238180	0	T	103238180	G	T	103238180	2	4	88	1	0	0	0	0	0	0	0	1	11462	929	33	3		3	PAH	12	103238180	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1079157	103238180	30613715	13219	20931											
C12orf42	374470	broad.mit.edu	37	chr12	103696338	103696338	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggtctggcggcagaacCtggaaggcaaagcaggaaag	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103696338C>T	ENST00000548048.1	-	9	927		c.e9-1		C12orf42_ENST00000548883.1_Splice_Site|C12orf42_ENST00000378113.2_Splice_Site|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42											NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GCGGCAGAACCTGGAAGGCAA	0.622													False	0	False	12:103696338	0	T	103696338	C	T	103696338	5	4	88	1	0	0	0	0	0	0	1	0	1697	695	24	2	455	2	C12orf42	12	103696338	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	458158	103696338	30155557	13220	20932											
C12orf42	374470	broad.mit.edu	37	chr12	103700054	103700054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgcttacagaacacctgGggactatgtactggcaagta	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103700054G>T	ENST00000548048.1	-	8	624	c.128C>A	c.(127-129)cCc>cAc	p.P43H	C12orf42_ENST00000548883.1_Missense_Mutation_p.P110H|C12orf42_ENST00000378113.2_Missense_Mutation_p.P110H|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548789.1_5'UTR			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	110										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AGAACACCTGGGGACTATGTA	0.398													False	0	True	12:103700054	0	T	103700054	G	T	103700054	3	4	88	1	0	0	0	0	1	0	0	0	1697	1232	43	3	761	3	C12orf42	12	103700054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3716	103700054	30151841	13221	20933											
STAB2	55576	broad.mit.edu	37	chr12	103984787	103984787	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccatgattaccagtggctCtgtaggggttcgagattgca	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103984787C>T	ENST00000388887.2	+	2	398	c.194C>T	c.(193-195)tCt>tTt	p.S65F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	65					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCAGTGGCTCTGTAGGGGTT	0.468													False	0	False	12:103984787	0	T	103984787	C	T	103984787	3	4	88	1	0	0	0	0	1	0	0	0	15320	913	32	2	200	2	STAB2	12	103984787	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	284733	103984787	29867108	13222	20934											
STAB2	55576	broad.mit.edu	37	chr12	104015879	104015879	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaacttatttggacccagCtgttcatcaggtatgtctga	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104015879C>T	ENST00000388887.2	+	5	681	c.477C>T	c.(475-477)agC>agT	p.S159S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	159	EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTGGACCCAGCTGTTCATCAG	0.448													False	0	False	12:104015879	0	T	104015879	C	T	104015879	2	4	88	1	0	0	0	0	0	0	0	1	15320	796	28	2		2	STAB2	12	104015879	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31092	104015879	29836016	13223	20935											
STAB2	55576	broad.mit.edu	37	chr12	104046365	104046365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggtggataataaagctgCtcaatactttgtgaaactcc	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104046365C>T	ENST00000388887.2	+	12	1493	c.1289C>T	c.(1288-1290)gCt>gTt	p.A430V		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	430	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AATAAAGCTGCTCAATACTTT	0.368													False	0	False	12:104046365	0	T	104046365	C	T	104046365	3	4	88	1	0	0	0	0	1	0	0	0	15320	797	28	2	1335	2	STAB2	12	104046365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30486	104046365	29805530	13224	20936											
STAB2	55576	broad.mit.edu	37	chr12	104122724	104122724	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaaaacctgaaattgatctCaaatgctacttccctccaag	6	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104122724C>T	ENST00000388887.2	+	48	5237	c.5033C>T	c.(5032-5034)tCa>tTa	p.S1678L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1678	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAATTGATCTCAAATGCTACT	0.493													False	0	True	12:104122724	0	T	104122724	C	T	104122724	3	4	88	1	0	0	0	0	1	0	0	0	15320	838	29	2	5223	2	STAB2	12	104122724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76359	104122724	29729171	13225	20937											
STAB2	55576	broad.mit.edu	37	chr12	104133248	104133248	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggtggagtaaaccaaaggTaattaagactgcagtgataa	11	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104133248T>C	ENST00000388887.2	+	54	5958		c.e54+2			NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2						angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAACCAAAGGTAATTAAGACT	0.443													False	0	False	12:104133248	0	C	104133248	T	C	104133248	5	2	88	1	0	0	0	0	0	0	1	0	15320	1652	57	4	5970	4	STAB2	12	104133248	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10524	104133248	29718647	13226	20938											
STAB2	55576	broad.mit.edu	37	chr12	104157272	104157272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtctttccaaacagtcGgaagaggacattaatgttgc	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104157272G>A	ENST00000388887.2	+	68	7695	c.7491G>A	c.(7489-7491)tcG>tcA	p.S2497S	RP11-341G23.4_ENST00000550029.1_RNA|RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2497					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.S2497S(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAAACAGTCGGAAGAGGACA	0.527													False	0	False	12:104157272	0	A	104157272	G	A	104157272	2	1	88	1	0	0	0	0	0	0	0	1	15320	1103	39	1		1	STAB2	12	104157272	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24024	104157272	29694623	13227	20939											
NT5DC3	51559	broad.mit.edu	37	chr12	104179235	104179235	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gattgcaccagtcctccagcCatgctttagggtcaaatcct	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104179235C>A	ENST00000392876.3	-	12	1247	c.1207G>T	c.(1207-1209)Ggc>Tgc	p.G403C		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	403							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTCCTCCAGCCATGCTTTAGG	0.443													False	0	False	12:104179235	0	A	104179235	C	A	104179235	3	1	88	1	0	0	0	0	1	0	0	0	10760	594	21	3	451	3	NT5DC3	12	104179235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21963	104179235	29672660	13228	20940											
NT5DC3	51559	broad.mit.edu	37	chr12	104187733	104187733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaatgtctgcttcaattgCtctgtacattattcctttga	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104187733C>A	ENST00000392876.3	-	7	836	c.796G>T	c.(796-798)Gca>Tca	p.A266S		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	266			A -> E (in dbSNP:rs12184494).				hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GCTTCAATTGCTCTGTACATT	0.403													False	0	False	12:104187733	0	A	104187733	C	A	104187733	3	1	88	1	0	0	0	0	1	0	0	0	10760	797	28	3	882	3	NT5DC3	12	104187733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8498	104187733	29664162	13229	20941											
HSP90B1	7184	broad.mit.edu	37	chr12	104340598	104340598	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaaacagttttggatcttgCtgtggttttgtttgaaacag	10	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104340598C>A	ENST00000299767.5	+	16	2323	c.2141C>A	c.(2140-2142)gCt>gAt	p.A714D		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	714					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TTGGATCTTGCTGTGGTTTTG	0.353													False	0	False	12:104340598	0	A	104340598	C	A	104340598	3	1	88	1	0	0	0	0	1	0	0	0	7452	797	28	3	2203	3	HSP90B1	12	104340598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152865	104340598	29511297	13230	20942											
TDG	6996	broad.mit.edu	37	chr12	104380828	104380828	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattccttcctttagtaatcActgtggaacacaagaacagg	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104380828A>G	ENST00000392872.3	+	10	1427	c.1193A>G	c.(1192-1194)cAc>cGc	p.H398R	TDG_ENST00000542036.1_Missense_Mutation_p.H194R|TDG_ENST00000266775.9_Missense_Mutation_p.H394R|TDG_ENST00000544861.1_Missense_Mutation_p.H255R	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	398					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TTTAGTAATCACTGTGGAACA	0.433								Base excision repair (BER), DNA glycosylases					False	0	False	12:104380828	0	G	104380828	A	G	104380828	3	3	88	1	0	0	0	0	1	0	0	0	15807	159	6	4	1231	4	TDG	12	104380828	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40230	104380828	29471067	13231	20943											
HCFC2	29915	broad.mit.edu	37	chr12	104461826	104461826	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctctttatatggtaacaaAtgctatttgtttggtggcct	8	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104461826A>C	ENST00000229330.4	+	3	518	c.414A>C	c.(412-414)aaA>aaC	p.K138N		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	138					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATGGTAACAAATGCTATTTGT	0.413													False	0	True	12:104461826	0	C	104461826	A	C	104461826	3	2	88	1	0	0	0	0	1	0	0	0	7040	98	4	4	424	4	HCFC2	12	104461826	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80998	104461826	29390069	13232	20944											
EID3	493861	broad.mit.edu	37	chr12	104697806	104697806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagctcctggagctcaccGctgacgaggagaagtgccgc	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104697806G>A	ENST00000527879.1	+	1	290	c.94G>A	c.(94-96)Gct>Act	p.A32T	TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation 3	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGAGCTCACCGCTGACGAGGA	0.637													False	0	False	12:104697806	0	A	104697806	G	A	104697806	3	1	88	1	0	0	0	0	1	0	0	0	5019	1087	38	1	96	1	EID3	12	104697806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235980	104697806	29154089	13233	20945											
CHST11	50515	broad.mit.edu	37	chr12	105151191	105151191	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaaacgccagcggaagaaCgccacccaggaggccctgcg	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105151191C>T	ENST00000303694.5	+	3	1108	c.669C>T	c.(667-669)aaC>aaT	p.N223N	CHST11_ENST00000549260.1_Silent_p.N218N	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	223					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.N223N(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						AGCGGAAGAACGCCACCCAGG	0.567													False	0	False	12:105151191	0	T	105151191	C	T	105151191	2	4	88	1	0	0	0	0	0	0	0	1	3422	535	19	1		1	CHST11	12	105151191	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453385	105151191	28700704	13234	20946											
ALDH1L2	160428	broad.mit.edu	37	chr12	105431901	105431901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcgcacagccttgtcaaGttcacagtcattaaatatta	5	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105431901G>A	ENST00000258494.9	-	18	2265	c.2125C>T	c.(2125-2127)Ctt>Ttt	p.L709F	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	709	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCCTTGTCAAGTTCACAGTCA	0.443													False	0	False	12:105431901	0	A	105431901	G	A	105431901	3	1	88	1	0	0	0	0	1	0	0	0	495	1029	36	2	670	2	ALDH1L2	12	105431901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	280710	105431901	28419994	13235	20947											
ALDH1L2	160428	broad.mit.edu	37	chr12	105462502	105462502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaatatactaaccatggCcttgattccttcaggaaaaa	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105462502C>T	ENST00000258494.9	-	4	729	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.A197T	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	197	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTAACCATGGCCTTGATTCCT	0.338													False	0	False	12:105462502	0	T	105462502	C	T	105462502	3	4	88	1	0	0	0	0	1	0	0	0	495	739	26	2	2262	2	ALDH1L2	12	105462502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30601	105462502	28389393	13236	20948											
APPL2	55198	broad.mit.edu	37	chr12	105582102	105582102	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attctgtcatgcggaagatgTtatgaatagcccgagcagcc	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105582102T>G	ENST00000258530.3	-	17	1808	c.1583A>C	c.(1582-1584)aAc>aCc	p.N528T	APPL2_ENST00000551662.1_Missense_Mutation_p.N534T|APPL2_ENST00000539978.2_Missense_Mutation_p.N485T	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	528	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCGGAAGATGTTATGAATAGC	0.413													False	0	False	12:105582102	0	G	105582102	T	G	105582102	3	3	88	1	0	0	0	0	1	0	0	0	820	1725	60	4	431	4	APPL2	12	105582102	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119600	105582102	28269793	13237	20949											
NUAK1	9891	broad.mit.edu	37	chr12	106460674	106460674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagctgctgtctgccagcCggttccggtaccgcttcagg	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106460674C>T	ENST00000261402.2	-	7	3271	c.1892G>A	c.(1891-1893)cGg>cAg	p.R631Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	631							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GTCTGCCAGCCGGTTCCGGTA	0.582													False	0	False	12:106460674	0	T	106460674	C	T	106460674	3	4	88	1	0	0	0	0	1	0	0	0	10780	652	23	1	97	1	NUAK1	12	106460674	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	878572	106460674	27391221	13238	20950											
NUAK1	9891	broad.mit.edu	37	chr12	106460686	106460686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagccggttccggtacCgcttcaggtactggggccgg	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106460686C>T	ENST00000261402.2	-	7	3259	c.1880G>A	c.(1879-1881)cGg>cAg	p.R627Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	627							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GTTCCGGTACCGCTTCAGGTA	0.612													False	0	False	12:106460686	0	T	106460686	C	T	106460686	3	4	88	1	0	0	0	0	1	0	0	0	10780	652	23	1	109	1	NUAK1	12	106460686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	106460686	27391209	13239	20951											
NUAK1	9891	broad.mit.edu	37	chr12	106532208	106532208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaccactcggccagaaaacCtctcggtggcccgcttgact	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106532208C>A	ENST00000261402.2	-	1	1603	c.224G>T	c.(223-225)aGg>aTg	p.R75M		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	75	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GCCAGAAAACCTCTCGGTGGC	0.667													False	0	False	12:106532208	0	A	106532208	C	A	106532208	3	1	88	1	0	0	0	0	1	0	0	0	10780	681	24	3	1789	3	NUAK1	12	106532208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71522	106532208	27319687	13240	20952											
CKAP4	10970	broad.mit.edu	37	chr12	106633726	106633726	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacttggctgaggtctgtatCtccttcacagcttcctttaa	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106633726C>A	ENST00000378026.4	-	2	1021	c.885G>T	c.(883-885)gaG>gaT	p.E295D	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	295						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AGGTCTGTATCTCCTTCACAG	0.522													False	0	False	12:106633726	0	A	106633726	C	A	106633726	3	1	88	1	0	0	0	0	1	0	0	0	3467	912	32	3	927	3	CKAP4	12	106633726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101518	106633726	27218169	13241	20953											
POLR3B	55703	broad.mit.edu	37	chr12	106772100	106772100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcttatccaagagcagctGtctaagaacaggatcatcgt	8	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106772100G>A	ENST00000228347.4	+	8	774	c.552G>A	c.(550-552)ctG>ctA	p.L184L	POLR3B_ENST00000539066.1_Silent_p.L126L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	184					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AAGAGCAGCTGTCTAAGAACA	0.413													False	0	False	12:106772100	0	A	106772100	G	A	106772100	2	1	88	1	0	0	0	0	0	0	0	1	12298	1364	48	2		2	POLR3B	12	106772100	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138374	106772100	27079795	13242	20954											
POLR3B	55703	broad.mit.edu	37	chr12	106857272	106857272	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagctacaaaggagcaacaGactcatatattgaaaaagtg	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106857272G>T	ENST00000228347.4	+	23	2809	c.2587G>T	c.(2587-2589)Gac>Tac	p.D863Y	POLR3B_ENST00000539066.1_Missense_Mutation_p.D805Y	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	863					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.D863N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGGAGCAACAGACTCATATAT	0.378													False	0	False	12:106857272	0	T	106857272	G	T	106857272	3	4	88	1	0	0	0	0	1	0	0	0	12298	942	33	3	2677	3	POLR3B	12	106857272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85172	106857272	26994623	13243	20955											
POLR3B	55703	broad.mit.edu	37	chr12	106903307	106903307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcatccccaggttaaaaCtgtccaagtacaatgaatga	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106903307C>T	ENST00000228347.4	+	28	3604	c.3382C>T	c.(3382-3384)Ctg>Ttg	p.L1128L	POLR3B_ENST00000539066.1_Silent_p.L1070L|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1128					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAGGTTAAAACTGTCCAAGTA	0.438													False	0	True	12:106903307	0	T	106903307	C	T	106903307	2	4	88	1	0	0	0	0	0	0	0	1	12298	564	20	2		2	POLR3B	12	106903307	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46035	106903307	26948588	13244	20956											
RFX4	5992	broad.mit.edu	37	chr12	107048102	107048102	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagaagaatgatacccaAcctgtcaatgctgccagctt	9	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107048102A>G	ENST00000392842.1	+	4	702	c.288A>G	c.(286-288)caA>caG	p.Q96Q	RFX4_ENST00000357881.4_Silent_p.Q105Q|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	96					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATGATACCCAACCTGTCAATG	0.488													False	0	False	12:107048102	0	G	107048102	A	G	107048102	2	3	88	1	0	0	0	0	0	0	0	1	13344	40	2	4		4	RFX4	12	107048102	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	144795	107048102	26803793	13245	20957											
RFX4	5992	broad.mit.edu	37	chr12	107126802	107126802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccacatctgtggaagtGccacctccctcttcccctgt	7	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107126802G>A	ENST00000392842.1	+	15	1986	c.1572G>A	c.(1570-1572)gtG>gtA	p.V524V	RFX4_ENST00000357881.4_Silent_p.V533V|RFX4_ENST00000229387.5_Silent_p.V430V|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	524					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTGTGGAAGTGCCACCTCCCT	0.502													False	0	False	12:107126802	0	A	107126802	G	A	107126802	2	1	88	1	0	0	0	0	0	0	0	1	13344	1306	46	2		2	RFX4	12	107126802	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78700	107126802	26725093	13246	20958											
RIC8B	55188	broad.mit.edu	37	chr12	107208523	107208523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaaggacatcccaacaaCatgtcaagtgtcctgcctgg	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107208523C>T	ENST00000392837.4	+	3	333	c.182C>T	c.(181-183)aCa>aTa	p.T61I	RIC8B_ENST00000355478.2_Missense_Mutation_p.T21I|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392839.2_Missense_Mutation_p.T61I			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	61					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						ATCCCAACAACATGTCAAGTG	0.388													False	0	False	12:107208523	0	T	107208523	C	T	107208523	3	4	88	1	0	0	0	0	1	0	0	0	13435	478	17	2	192	2	RIC8B	12	107208523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81721	107208523	26643372	13247	20959											
CRY1	1407	broad.mit.edu	37	chr12	107393758	107393758	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagtttgaagtaaaacagtcGacatgacaaacaaccaaatc	6	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107393758G>A	ENST00000008527.5	-	6	1654	c.787C>T	c.(787-789)Cga>Tga	p.R263*		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	263	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	p.R263*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TAAAACAGTCGACATGACAAA	0.338													False	0	False	12:107393758	0	A	107393758	G	A	107393758	4	1	88	1	0	0	0	0	0	1	0	0	3926	1066	37	1	1001	1	CRY1	12	107393758	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185235	107393758	26458137	13248	20960											
BTBD11	121551	broad.mit.edu	37	chr12	107914310	107914310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatcttcacagagacccacaGcggtcaaacaagccagggga	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107914310G>T	ENST00000280758.5	+	2	1710	c.1182G>T	c.(1180-1182)caG>caT	p.Q394H	BTBD11_ENST00000490090.2_Missense_Mutation_p.Q394H|BTBD11_ENST00000420571.2_Missense_Mutation_p.Q394H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	394						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGACCCACAGCGGTCAAACA	0.542													False	0	False	12:107914310	0	T	107914310	G	T	107914310	3	4	88	1	0	0	0	0	1	0	0	0	1546	962	34	3	1188	3	BTBD11	12	107914310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	520552	107914310	25937585	13249	20961											
BTBD11	121551	broad.mit.edu	37	chr12	107937870	107937870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgcccacaaatggaatggGaaaaccccaacgtggagcct	10	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107937870G>A	ENST00000280758.5	+	3	1972	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	BTBD11_ENST00000490090.2_Missense_Mutation_p.E482K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E482K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	482						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AATGGAATGGGAAAACCCCAA	0.582													False	0	True	12:107937870	0	A	107937870	G	A	107937870	3	1	88	1	0	0	0	0	1	0	0	0	1546	1175	41	2	1454	2	BTBD11	12	107937870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23560	107937870	25914025	13250	20962											
BTBD11	121551	broad.mit.edu	37	chr12	107937887	107937887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaaaccccaacgtggaGccttccaaagtcaacctcca	8	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107937887G>A	ENST00000280758.5	+	3	1989	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	BTBD11_ENST00000490090.2_Silent_p.E487E|BTBD11_ENST00000420571.2_Silent_p.E487E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	487						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCAACGTGGAGCCTTCCAAAG	0.572													False	0	False	12:107937887	0	A	107937887	G	A	107937887	2	1	88	1	0	0	0	0	0	0	0	1	1546	962	34	2		2	BTBD11	12	107937887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	107937887	25914008	13251	20963											
BTBD11	121551	broad.mit.edu	37	chr12	108013842	108013842	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggcctctcatccagtgCttgttaaaggagtttaagac	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108013842C>A	ENST00000280758.5	+	11	3060	c.2532C>A	c.(2530-2532)tgC>tgA	p.C844*	BTBD11_ENST00000357167.4_Nonsense_Mutation_p.C381*|BTBD11_ENST00000490090.2_Nonsense_Mutation_p.C844*|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.C725*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	844						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCATCCAGTGCTTGTTAAAGG	0.582													False	0	False	12:108013842	0	A	108013842	C	A	108013842	4	1	88	1	0	0	0	0	0	1	0	0	1546	805	28	3	2679	3	BTBD11	12	108013842	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75955	108013842	25838053	13252	20964											
BTBD11	121551	broad.mit.edu	37	chr12	108051379	108051379	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgaagcattcaagcagctcCtgtatgacaaaaatggtgaa	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108051379C>A	ENST00000280758.5	+	17	3727	c.3199C>A	c.(3199-3201)Ctg>Atg	p.L1067M	BTBD11_ENST00000494235.2_Missense_Mutation_p.L146M|BTBD11_ENST00000357167.4_Missense_Mutation_p.L604M|BTBD11_ENST00000420571.2_Missense_Mutation_p.L948M	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1067						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAAGCAGCTCCTGTATGACAA	0.473													False	0	False	12:108051379	0	A	108051379	C	A	108051379	3	1	88	1	0	0	0	0	1	0	0	0	1546	680	24	3	3370	3	BTBD11	12	108051379	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37537	108051379	25800516	13253	20965											
PWP1	11137	broad.mit.edu	37	chr12	108082406	108082406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatagagaagaaggtggtgGcagtgatgaagaggagacag	17	3	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108082406G>A	ENST00000412830.3	+	3	314	c.146G>A	c.(145-147)gGc>gAc	p.G49D	PWP1_ENST00000541166.1_5'UTR	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	49					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GAAGGTGGTGGCAGTGATGAA	0.488													False	0	False	12:108082406	0	A	108082406	G	A	108082406	3	1	88	1	0	0	0	0	1	0	0	0	12922	1203	42	2	156	2	PWP1	12	108082406	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31027	108082406	25769489	13254	20966											
PWP1	11137	broad.mit.edu	37	chr12	108082504	108082504	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccctggaggatggtgacccaGaggatgacaggacgcttgat	15	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108082504G>A	ENST00000412830.3	+	3	412	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PWP1_ENST00000541166.1_Missense_Mutation_p.E20K	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	82					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGGTGACCCAGAGGATGACAG	0.522													False	0	False	12:108082504	0	A	108082504	G	A	108082504	3	1	88	1	0	0	0	0	1	0	0	0	12922	943	33	2	254	2	PWP1	12	108082504	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	108082504	25769391	13255	20967											
PRDM4	11108	broad.mit.edu	37	chr12	108128027	108128027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcatccgctgaatacacaGcactgttaatcctacagtct	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108128027G>A	ENST00000228437.5	-	12	2825	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V		NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	789					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGAATACACAGCACTGTTAAT	0.418													False	0	False	12:108128027	0	A	108128027	G	A	108128027	3	1	88	1	0	0	0	0	1	0	0	0	12535	971	34	2	43	2	PRDM4	12	108128027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45523	108128027	25723868	13256	20968											
PRDM4	11108	broad.mit.edu	37	chr12	108145246	108145246	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaattggagtcttccatttGcagtgaaggtgatacaaaag	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108145246G>A	ENST00000228437.5	-	5	1531	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	358					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTTCCATTTGCAGTGAAGGT	0.413													False	0	True	12:108145246	0	A	108145246	G	A	108145246	4	1	88	1	0	0	0	0	0	1	0	0	12535	1328	46	2	1365	2	PRDM4	12	108145246	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17219	108145246	25706649	13257	20969											
ASCL4	121549	broad.mit.edu	37	chr12	108169235	108169235	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcaagcgcaacgagcgCgagcggcagcgggtgcgctg	17	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108169235C>T	ENST00000342331.4	+	1	1074	c.243C>T	c.(241-243)cgC>cgT	p.R81R		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	80					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GCAACGAGCGCGAGCGGCAGC	0.716													False	0	True	12:108169235	0	T	108169235	C	T	108169235	2	4	88	1	0	0	0	0	0	0	0	1	1040	755	27	1		1	ASCL4	12	108169235	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23989	108169235	25682660	13258	20970											
WSCD2	9671	broad.mit.edu	37	chr12	108626655	108626655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagctactacttcgatgGctccctctacaacaaaggtg	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108626655G>A	ENST00000332082.4	+	8	1945	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	WSCD2_ENST00000549903.1_Missense_Mutation_p.G376D|WSCD2_ENST00000547525.1_Missense_Mutation_p.G376D|WSCD2_ENST00000261400.3_Missense_Mutation_p.G376D			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	376						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TACTTCGATGGCTCCCTCTAC	0.577													False	0	False	12:108626655	0	A	108626655	G	A	108626655	3	1	88	1	0	0	0	0	1	0	0	0	17491	1203	42	2	1149	2	WSCD2	12	108626655	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457420	108626655	25225240	13259	20971											
CMKLR1	1240	broad.mit.edu	37	chr12	108686528	108686528	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accagaccatgttcactgtcTtcttcatcttgaaggtggca	8	11	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108686528T>A	ENST00000312143.7	-	3	575	c.212A>T	c.(211-213)aAg>aTg	p.K71M	CMKLR1_ENST00000412676.1_Missense_Mutation_p.K71M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.K69M|CMKLR1_ENST00000397688.2_Missense_Mutation_p.K69M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.K71M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	71					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTTCACTGTCTTCTTCATCTT	0.517													False	0	False	12:108686528	0	A	108686528	T	A	108686528	3	1	88	1	0	0	0	0	1	0	0	0	3602	1609	56	5	913	5	CMKLR1	12	108686528	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59873	108686528	25165367	13260	20972											
FICD	11153	broad.mit.edu	37	chr12	108913102	108913102	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggaagctgccaacgagggCgacgtgaggcctttcattcg	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108913102C>T	ENST00000552695.1	+	3	1462	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	409	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	p.G409G(1)		NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCAACGAGGGCGACGTGAGGC	0.582													False	0	True	12:108913102	0	T	108913102	C	T	108913102	2	4	88	1	0	0	0	0	0	0	0	1	5927	755	27	1		1	FICD	12	108913102	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	226574	108913102	24938793	13261	20973											
SART3	9733	broad.mit.edu	37	chr12	108936865	108936866	+	Frame_Shift_Ins	INS	-	-	ATATATAGAGTGTATAAATG													tgctttgttatagttctgaaINSttactgactctggtattggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108936865_108936866insATATATAGAGTGTATAAATG	ENST00000228284.3	-	6	1078_1079	c.844_845insCATTTATACACTCTATATAT	c.(844-846)attfs	p.I282fs	SART3_ENST00000431469.2_Frame_Shift_Ins_p.I282fs	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	282					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						ATAGTTCTGAATTACTGACTCT	0.416									Porokeratosis				False	0	False	12:108936865	0	ATATATAGAGTGTATAAATG	108936866	-	ATATATAGAGTGTATAAATG	108936865	7	5	88	1	0	1	1	0	0	0	0	0	13927	101	4	0	2102	0	SART3	12	108936865	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	23763	108936865	24915030	13262	20974											
SSH1	54434	broad.mit.edu	37	chr12	109181823	109181823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcgggtttccctgatgGtttggaggttgcagctgggt	19	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109181823G>A	ENST00000326495.5	-	15	3184	c.3091C>T	c.(3091-3093)Cca>Tca	p.P1031S	SSH1_ENST00000360239.3_Missense_Mutation_p.P719S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1031	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCCCTGATGGTTTGGAGGTT	0.562													False	0	True	12:109181823	0	A	109181823	G	A	109181823	3	1	88	1	0	0	0	0	1	0	0	0	15266	1261	44	2	62	2	SSH1	12	109181823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244958	109181823	24670072	13263	20975											
SSH1	54434	broad.mit.edu	37	chr12	109201572	109201572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtgcctccgggccacttCgcaggccttgtgaagcacct	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109201572C>T	ENST00000326495.5	-	8	661	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	SSH1_ENST00000551165.1_Missense_Mutation_p.E190K|SSH1_ENST00000326470.5_Missense_Mutation_p.E201K|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	190					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGGGCCACTTCGCAGGCCTTG	0.592													False	0	False	12:109201572	0	T	109201572	C	T	109201572	3	4	88	1	0	0	0	0	1	0	0	0	15266	893	31	1	2799	1	SSH1	12	109201572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19749	109201572	24650323	13264	20976											
SSH1	54434	broad.mit.edu	37	chr12	109205098	109205098	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaaccatcccaatggtgcaGcttttactgcgatgggggag	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109205098G>T	ENST00000360239.3	-	0	494				SSH1_ENST00000326495.5_Missense_Mutation_p.S136R|SSH1_ENST00000551165.1_Missense_Mutation_p.S136R|SSH1_ENST00000326470.5_Missense_Mutation_p.S147R|SSH1_ENST00000546812.1_5'UTR			Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1						actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAATGGTGCAGCTTTTACTGC	0.522													False	0	False	12:109205098	0	T	109205098	G	T	109205098	1	4	88	1	0	0	0	0	0	0	0	0	15266	962	34	3		3	SSH1	12	109205098	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3526	109205098	24646797	13265	20977											
DAO	1610	broad.mit.edu	37	chr12	109278930	109278930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaccgacgtggctgccGgcctctggcagccctacctt	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109278930G>A	ENST00000228476.3	+	2	352	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	DAO_ENST00000551281.1_Missense_Mutation_p.G50S	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	50					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CGTGGCTGCCGGCCTCTGGCA	0.617													False	0	False	12:109278930	0	A	109278930	G	A	109278930	3	1	88	1	0	0	0	0	1	0	0	0	4256	1116	39	1	150	1	DAO	12	109278930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73832	109278930	24572965	13266	20978											
DAO	1610	broad.mit.edu	37	chr12	109293208	109293208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtacgcccccagattcGgctagaaagagaacagcttc	10	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109293208G>A	ENST00000228476.3	+	10	1073	c.869G>A	c.(868-870)cGg>cAg	p.R290Q	DAO_ENST00000551281.1_Missense_Mutation_p.R224Q	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	290					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CCCCAGATTCGGCTAGAAAGA	0.483													False	0	False	12:109293208	0	A	109293208	G	A	109293208	3	1	88	1	0	0	0	0	1	0	0	0	4256	1116	39	1	903	1	DAO	12	109293208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14278	109293208	24558687	13267	20979											
SVOP	55530	broad.mit.edu	37	chr12	109332674	109332674	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctatcctctttaaggtggCgattgccttttcctggttcc	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109332674C>T	ENST00000299134.5	-	7	629	c.630G>A	c.(628-630)tcG>tcA	p.S210S		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						TTTAAGGTGGCGATTGCCTTT	0.547													False	0	False	12:109332674	0	T	109332674	C	T	109332674	2	4	88	1	0	0	0	0	0	0	0	1	15505	768	27	1		1	SVOP	12	109332674	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39466	109332674	24519221	13268	20980											
USP30	84749	broad.mit.edu	37	chr12	109494597	109494598	+	Splice_Site	INS	-	-	CAAA													agaaagaagcgtagaaaaggINStaagaatgagaacactgcat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109494597_109494598insCAAA	ENST00000392784.2	+	5	676		c.e5+1		USP30_ENST00000257548.5_Splice_Site			Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30						ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CGTAGAAAAGGTAAGAATGAGA	0.426													False	0	False	12:109494597	0	CAAA	109494598	-	CAAA	109494597	8	5	88	1	0	1	1	0	0	0	1	0	17145	1275	44	0	200	0	USP30	12	109494597	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	161923	109494597	24357298	13269	20981											
USP30	84749	broad.mit.edu	37	chr12	109523652	109523652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcctgcaggaggtcctGtcctccagcgcctacctgct	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109523652G>A	ENST00000257548.5	+	13	1563	c.1470G>A	c.(1468-1470)ctG>ctA	p.L490L	USP30_ENST00000392784.2_Silent_p.L459L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	490					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AGGAGGTCCTGTCCTCCAGCG	0.597													False	0	True	12:109523652	0	A	109523652	G	A	109523652	2	1	88	1	0	0	0	0	0	0	0	1	17145	1364	48	2		2	USP30	12	109523652	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29055	109523652	24328243	13270	20982											
ALKBH2	121642	broad.mit.edu	37	chr12	109530459	109530459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcctccattccctggggCctctctcctgggcctcttcc	10	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109530459C>T	ENST00000429722.2	-	2	496	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	ALKBH2_ENST00000343075.3_Missense_Mutation_p.A45T|ALKBH2_ENST00000440112.2_Missense_Mutation_p.A45T	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	45					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	TTCCCTGGGGCCTCTCTCCTG	0.597								Direct reversal of damage					False	0	True	12:109530459	0	T	109530459	C	T	109530459	3	4	88	1	0	0	0	0	1	0	0	0	527	739	26	2	664	2	ALKBH2	12	109530459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6807	109530459	24321436	13271	20983											
ACACB	32	broad.mit.edu	37	chr12	109577565	109577565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagagcttcaagccaacGggactgggacacaaggtctg	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109577565G>A	ENST00000338432.7	+	2	474	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	ACACB_ENST00000377848.3_Missense_Mutation_p.G119R|ACACB_ENST00000377854.5_Missense_Mutation_p.G119R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	119					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCAAGCCAACGGGACTGGGAC	0.622													False	0	True	12:109577565	0	A	109577565	G	A	109577565	3	1	88	1	0	0	0	0	1	0	0	0	107	1116	39	1	357	1	ACACB	12	109577565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47106	109577565	24274330	13272	20984											
ACACB	32	broad.mit.edu	37	chr12	109604757	109604757	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaccgtggcttctcccgctGagtttgtcacacgctttggg	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109604757G>A	ENST00000338432.7	+	3	864	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ACACB_ENST00000377848.3_Missense_Mutation_p.E249K|ACACB_ENST00000377854.5_Missense_Mutation_p.E249K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	249					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTCTCCCGCTGAGTTTGTCAC	0.612													False	0	False	12:109604757	0	A	109604757	G	A	109604757	3	1	88	1	0	0	0	0	1	0	0	0	107	1291	45	2	751	2	ACACB	12	109604757	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27192	109604757	24247138	13273	20985											
ACACB	32	broad.mit.edu	37	chr12	109605787	109605787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgttccgcaacgagcgGgccatccggtttgttgtgat	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109605787G>A	ENST00000338432.7	+	4	992	c.873G>A	c.(871-873)cgG>cgA	p.R291R	ACACB_ENST00000377848.3_Silent_p.R291R|ACACB_ENST00000377854.5_Silent_p.R291R			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	291	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCAACGAGCGGGCCATCCGGT	0.602													False	0	True	12:109605787	0	A	109605787	G	A	109605787	2	1	88	1	0	0	0	0	0	0	0	1	107	1219	43	2		2	ACACB	12	109605787	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1030	109605787	24246108	13274	20986											
ACACB	32	broad.mit.edu	37	chr12	109629664	109629664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcctaggcggagaaaccgGatatcatgcttggggtggta	14	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109629664G>A	ENST00000338432.7	+	15	2427	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N	ACACB_ENST00000377848.3_Missense_Mutation_p.D770N|ACACB_ENST00000377854.5_Missense_Mutation_p.D770N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	770					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGAGAAACCGGATATCATGCT	0.557													False	0	False	12:109629664	0	A	109629664	G	A	109629664	3	1	88	1	0	0	0	0	1	0	0	0	107	1174	41	2	2362	2	ACACB	12	109629664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23877	109629664	24222231	13275	20987											
ACACB	32	broad.mit.edu	37	chr12	109637233	109637233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattaccatcggcaataagaCgtgtgtgtttgagaaggaga	12	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109637233C>T	ENST00000338432.7	+	18	2773	c.2654C>T	c.(2653-2655)aCg>aTg	p.T885M	ACACB_ENST00000377848.3_Missense_Mutation_p.T885M|ACACB_ENST00000377854.5_Missense_Mutation_p.T885M			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	885					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGCAATAAGACGTGTGTGTTT	0.547													False	0	True	12:109637233	0	T	109637233	C	T	109637233	3	4	88	1	0	0	0	0	1	0	0	0	107	536	19	1	2720	1	ACACB	12	109637233	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7569	109637233	24214662	13276	20988											
ACACB	32	broad.mit.edu	37	chr12	109637282	109637282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtcctgagatccccctcGgctgggaagctgacacagta	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109637282G>A	ENST00000338432.7	+	18	2822	c.2703G>A	c.(2701-2703)tcG>tcA	p.S901S	ACACB_ENST00000377848.3_Silent_p.S901S|ACACB_ENST00000377854.5_Silent_p.S901S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	901	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GATCCCCCTCGGCTGGGAAGC	0.582													False	0	False	12:109637282	0	A	109637282	G	A	109637282	2	1	88	1	0	0	0	0	0	0	0	1	107	1103	39	1		1	ACACB	12	109637282	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49	109637282	24214613	13277	20989											
ACACB	32	broad.mit.edu	37	chr12	109644617	109644617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggaaaacctcaccaacGtcatgagtggcttttgtctg	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109644617G>A	ENST00000338432.7	+	20	3135	c.3016G>A	c.(3016-3018)Gtc>Atc	p.V1006I	ACACB_ENST00000377848.3_Missense_Mutation_p.V1006I|ACACB_ENST00000377854.5_Missense_Mutation_p.V1006I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1006					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCTCACCAACGTCATGAGTGG	0.537													False	0	False	12:109644617	0	A	109644617	G	A	109644617	3	1	88	1	0	0	0	0	1	0	0	0	107	1145	40	1	3090	1	ACACB	12	109644617	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7335	109644617	24207278	13278	20990											
ACACB	32	broad.mit.edu	37	chr12	109674992	109674992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaagatcgcatttaccGtcacttggaacctgccctgg	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109674992G>A	ENST00000338432.7	+	34	4588	c.4469G>A	c.(4468-4470)cGt>cAt	p.R1490H	ACACB_ENST00000543201.1_Missense_Mutation_p.R156H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1490H|ACACB_ENST00000377854.5_Missense_Mutation_p.R1420H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1490					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CGCATTTACCGTCACTTGGAA	0.552													False	0	False	12:109674992	0	A	109674992	G	A	109674992	3	1	88	1	0	0	0	0	1	0	0	0	107	1145	40	1	4599	1	ACACB	12	109674992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30375	109674992	24176903	13279	20991											
ACACB	32	broad.mit.edu	37	chr12	109697952	109697952	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attggggaaggatcagtgtgActgttagtgagggttttctt	15	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109697952A>G	ENST00000543201.1	+	20	2578	c.2577A>G	c.(2575-2577)tgA>tgG	p.*859W	ACACB_ENST00000377848.3_Intron|ACACB_ENST00000377854.5_Intron|ACACB_ENST00000338432.7_Intron			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	0					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GATCAGTGTGACTGTTAGTGA	0.498													False	0	False	12:109697952	0	G	109697952	A	G	109697952	4	3	88	1	0	0	0	0	0	0	0	0	107	290	10	4		4	ACACB	12	109697952	Nonstop_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22960	109697952	24153943	13280	20992											
FOXN4	121643	broad.mit.edu	37	chr12	109719515	109719515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacggccactgtggtggCgtgagtcagcacgggggcct	17	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109719515C>T	ENST00000299162.5	-	9	1095	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	FOXN4_ENST00000355216.1_Missense_Mutation_p.A151T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	331					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						ACTGTGGTGGCGTGAGTCAGC	0.677													False	0	False	12:109719515	0	T	109719515	C	T	109719515	3	4	88	1	0	0	0	0	1	0	0	0	6064	768	27	1	570	1	FOXN4	12	109719515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21563	109719515	24132380	13281	20993											
FOXN4	121643	broad.mit.edu	37	chr12	109723184	109723184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctcctcctccatcttgtCgatgcgggccaggttcagag	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109723184C>T	ENST00000299162.5	-	8	930	c.826G>A	c.(826-828)Gac>Aac	p.D276N	FOXN4_ENST00000355216.1_Missense_Mutation_p.D96N	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	276					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.D276N(1)|p.D96N(1)		large_intestine(5)|lung(9)|ovary(2)	16						TCCATCTTGTCGATGCGGGCC	0.612													False	0	False	12:109723184	0	T	109723184	C	T	109723184	3	4	88	1	0	0	0	0	1	0	0	0	6064	884	31	1	739	1	FOXN4	12	109723184	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3669	109723184	24128711	13282	20994											
MYO1H	283446	broad.mit.edu	37	chr12	109843753	109843753	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttggaattattgccagtgtCttacacctggggaacattgg	11	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109843753C>A	ENST00000310903.5	+	8	934	c.828C>A	c.(826-828)gtC>gtA	p.V276V	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Silent_p.V276V			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTGCCAGTGTCTTACACCTGG	0.483													False	0	False	12:109843753	0	A	109843753	C	A	109843753	2	1	88	1	0	0	0	0	0	0	0	1	10142	900	32	3		3	MYO1H	12	109843753	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120569	109843753	24008142	13283	20995											
UBE3B	89910	broad.mit.edu	37	chr12	109959007	109959007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccatgaagggggtcatcCgtgtgaagtttgtcaatgac	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109959007C>T	ENST00000342494.3	+	20	2726	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	UBE3B_ENST00000434735.2_Missense_Mutation_p.R711C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	711	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGGGGTCATCCGTGTGAAGTT	0.502													False	0	False	12:109959007	0	T	109959007	C	T	109959007	3	4	88	1	0	0	0	0	1	0	0	0	16964	652	23	1	2201	1	UBE3B	12	109959007	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115254	109959007	23892888	13284	20996											
UBE3B	89910	broad.mit.edu	37	chr12	109967770	109967770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacagctgccctcattagCggattccgttccattatcaa	6	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109967770C>T	ENST00000342494.3	+	25	3298	c.2703C>T	c.(2701-2703)agC>agT	p.S901S	UBE3B_ENST00000434735.2_Silent_p.S901S|UBE3B_ENST00000535089.1_5'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	901	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCCTCATTAGCGGATTCCGTT	0.448													False	0	False	12:109967770	0	T	109967770	C	T	109967770	2	4	88	1	0	0	0	0	0	0	0	1	16964	767	27	1		1	UBE3B	12	109967770	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8763	109967770	23884125	13285	20997											
MVK	4598	broad.mit.edu	37	chr12	110024595	110024595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccatcaagggaagatttcatCcttaaagaggtaacctgggg	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110024595C>T	ENST00000228510.3	+	7	744	c.668C>T	c.(667-669)tCc>tTc	p.S223F	MVK_ENST00000539575.1_Missense_Mutation_p.S171F|MVK_ENST00000541384.1_Missense_Mutation_p.S29F|MVK_ENST00000392727.3_Missense_Mutation_p.S171F|MVK_ENST00000539696.1_Intron	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	223					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						AAGATTTCATCCTTAAAGAGG	0.512													False	0	False	12:110024595	0	T	110024595	C	T	110024595	3	4	88	1	0	0	0	0	1	0	0	0	10062	855	30	2	690	2	MVK	12	110024595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56825	110024595	23827300	13286	20998											
TRPV4	59341	broad.mit.edu	37	chr12	110224581	110224581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgaccatctccccagagCggaaggccttcctcaggaat	11	14	2	2	rs143835743		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110224581C>T	ENST00000418703.2	-	13	2364	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	TRPV4_ENST00000537083.1_Missense_Mutation_p.R697H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R710H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R710H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R757H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R723H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R650H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R697H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	757					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CTCCCCAGAGCGGAAGGCCTT	0.662													False	0	False	12:110224581	0	T	110224581	C	T	110224581	3	4	88	1	0	0	0	0	1	0	0	0	16681	768	27	1	357	1	TRPV4	12	110224581	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199986	110224581	23627314	13287	20999											
TRPV4	59341	broad.mit.edu	37	chr12	110246189	110246189	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtggagccccgggacacGatgtcaaagaggataggccg	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110246189G>A	ENST00000418703.2	-	2	565	c.471C>T	c.(469-471)atC>atT	p.I157I	TRPV4_ENST00000537083.1_Silent_p.I157I|TRPV4_ENST00000541794.1_Silent_p.I157I|TRPV4_ENST00000392719.2_Silent_p.I157I|TRPV4_ENST00000261740.2_Silent_p.I157I|TRPV4_ENST00000536838.1_Silent_p.I123I|TRPV4_ENST00000544971.1_Silent_p.I157I|TRPV4_ENST00000346520.2_Silent_p.I157I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	157					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCGGGACACGATGTCAAAGA	0.612													False	0	False	12:110246189	0	A	110246189	G	A	110246189	2	1	88	1	0	0	0	0	0	0	0	1	16681	1048	37	1		1	TRPV4	12	110246189	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21608	110246189	23605706	13288	21000											
GIT2	9815	broad.mit.edu	37	chr12	110385234	110385234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgtctgtgtactcagAaccagtttgcacctgatata	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110385234A>G	ENST00000360185.4	-	14	1482	c.1318T>C	c.(1318-1320)Tct>Cct	p.S440P	TCHP_ENST00000550780.1_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S439P|GIT2_ENST00000361006.5_Missense_Mutation_p.S490P|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000343646.5_Missense_Mutation_p.S410P|GIT2_ENST00000457474.2_Missense_Mutation_p.S442P|GIT2_ENST00000354574.4_Missense_Mutation_p.S442P|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.S490P	NM_014776.3	NP_055591.2	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	490					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GTGTACTCAGAACCAGTTTGC	0.493													False	0	False	12:110385234	0	G	110385234	A	G	110385234	3	3	88	1	0	0	0	0	1	0	0	0	6442	246	9	4	835	4	GIT2	12	110385234	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	139045	110385234	23466661	13289	21001											
ANKRD13A	88455	broad.mit.edu	37	chr12	110450942	110450942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctagttttacatgaggCtgtgagcactggcgatcctg	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110450942C>T	ENST00000261739.4	+	3	408	c.242C>T	c.(241-243)gCt>gTt	p.A81V	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	81										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TTACATGAGGCTGTGAGCACT	0.433													False	0	False	12:110450942	0	T	110450942	C	T	110450942	3	4	88	1	0	0	0	0	1	0	0	0	641	797	28	2	252	2	ANKRD13A	12	110450942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65708	110450942	23400953	13290	21002											
ATP2A2	488	broad.mit.edu	37	chr12	110765515	110765515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggaacagctttccaaagTcatctcccttatttgcattg	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110765515T>C	ENST00000395494.2	+	7	1270	c.707T>C	c.(706-708)gTc>gCc	p.V236A	ATP2A2_ENST00000539276.2_Missense_Mutation_p.V263A|ATP2A2_ENST00000308664.6_Missense_Mutation_p.V263A			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	263					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTTTCCAAAGTCATCTCCCTT	0.448													False	0	False	12:110765515	0	C	110765515	T	C	110765515	3	2	88	1	0	0	0	0	1	0	0	0	1141	1667	58	4	818	4	ATP2A2	12	110765515	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	314573	110765515	23086380	13291	21003											
ATP2A2	488	broad.mit.edu	37	chr12	110778497	110778497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgttggctgcgtgggcatgCtggatcctccgagaatcgag	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110778497C>T	ENST00000395494.2	+	13	2277	c.1714C>T	c.(1714-1716)Ctg>Ttg	p.L572L	ATP2A2_ENST00000539276.2_Silent_p.L599L|ATP2A2_ENST00000308664.6_Silent_p.L599L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	599					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CGTGGGCATGCTGGATCCTCC	0.498													False	0	False	12:110778497	0	T	110778497	C	T	110778497	2	4	88	1	0	0	0	0	0	0	0	1	1141	796	28	2		2	ATP2A2	12	110778497	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12982	110778497	23073398	13292	21004											
ATP2A2	488	broad.mit.edu	37	chr12	110784169	110784169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccaaatcctgctcgttctCggcatgcaccgatgggattt	9	13	1	0	rs151157805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110784169C>T	ENST00000395494.2	+	19	3505	c.2942C>T	c.(2941-2943)tCg>tTg	p.S981L	ATP2A2_ENST00000539276.2_Missense_Mutation_p.S1008L|ATP2A2_ENST00000308664.6_Intron			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1008					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGCTCGTTCTCGGCATGCACC	0.527													False	0	False	12:110784169	0	T	110784169	C	T	110784169	3	4	88	1	0	0	0	0	1	0	0	0	1141	893	31	1	3101	1	ATP2A2	12	110784169	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5672	110784169	23067726	13293	21005											
ATP2A2	488	broad.mit.edu	37	chr12	110784227	110784227	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcataatgcccctggtgatCtgggtctatagcacagacac	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110784227C>A	ENST00000395494.2	+	19	3563	c.3000C>A	c.(2998-3000)atC>atA	p.I1000I	ATP2A2_ENST00000539276.2_Silent_p.I1027I|ATP2A2_ENST00000308664.6_Intron			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1027					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CCCTGGTGATCTGGGTCTATA	0.433													False	0	False	12:110784227	0	A	110784227	C	A	110784227	2	1	88	1	0	0	0	0	0	0	0	1	1141	903	32	3		3	ATP2A2	12	110784227	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58	110784227	23067668	13294	21006											
RAD9B	144715	broad.mit.edu	37	chr12	110960151	110960151	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagagtggatggagatgtcAgtgaagtatcagaaagcagt	14	3	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110960151A>G	ENST00000409246.1	+	10	1169	c.844A>G	c.(844-846)Agt>Ggt	p.S282G	RAD9B_ENST00000409300.1_Missense_Mutation_p.S354G|RAD9B_ENST00000409425.1_Missense_Mutation_p.S282G|RAD9B_ENST00000392672.4_Missense_Mutation_p.S354G|RAD9B_ENST00000409778.3_Missense_Mutation_p.S285G			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	351					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGGAGATGTCAGTGAAGTATC	0.453													False	0	False	12:110960151	0	G	110960151	A	G	110960151	3	3	88	1	0	0	0	0	1	0	0	0	13075	188	7	4	1098	4	RAD9B	12	110960151	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	175924	110960151	22891744	13295	21007											
TCTN1	79600	broad.mit.edu	37	chr12	111078889	111078889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagctgatctctcattcGttctggggacagttagcagc	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111078889G>A	ENST00000551590.1	+	9	1195	c.1039G>A	c.(1039-1041)Gtt>Att	p.V347I	TCTN1_ENST00000377654.3_Missense_Mutation_p.V169I|TCTN1_ENST00000397659.4_Missense_Mutation_p.V347I|TCTN1_ENST00000397655.3_Missense_Mutation_p.V333I|HVCN1_ENST00000548312.1_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	347					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCTCTCATTCGTTCTGGGGAC	0.388													False	0	False	12:111078889	0	A	111078889	G	A	111078889	3	1	88	1	0	0	0	0	1	0	0	0	15804	1145	40	1	1245	1	TCTN1	12	111078889	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118738	111078889	22773006	13296	21008											
CCDC63	160762	broad.mit.edu	37	chr12	111317744	111317744	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagatgctgaccactaAtgccaagctccggaaggaga	11	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111317744A>C	ENST00000308208.5	+	6	766	c.524A>C	c.(523-525)aAt>aCt	p.N175T	CCDC63_ENST00000545036.1_Missense_Mutation_p.N135T|CCDC63_ENST00000552694.1_Missense_Mutation_p.N96T|CCDC63_ENST00000550317.1_Intron	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	175										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CTGACCACTAATGCCAAGCTC	0.458													False	0	False	12:111317744	0	C	111317744	A	C	111317744	3	2	88	1	0	0	0	0	1	0	0	0	2855	101	4	4	542	4	CCDC63	12	111317744	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	238855	111317744	22534151	13297	21009											
MYL2	4633	broad.mit.edu	37	chr12	111348974	111348974	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaggcggcgaacatctgGtcaacctgcaatgagccagc	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111348974G>A	ENST00000228841.8	-	7	455	c.408C>T	c.(406-408)gaC>gaT	p.D136D	MYL2_ENST00000548438.1_Silent_p.D122D	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	136	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CGAACATCTGGTCAACCTGCA	0.612													False	0	False	12:111348974	0	A	111348974	G	A	111348974	2	1	88	1	0	0	0	0	0	0	0	1	10114	1252	44	2		2	MYL2	12	111348974	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31230	111348974	22502921	13298	21010											
CUX2	23316	broad.mit.edu	37	chr12	111749924	111749924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcatcaccccgagaatcCgcacgcctgagacaggctca	10	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111749924C>T	ENST00000261726.6	+	16	2075	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	641						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCGAGAATCCGCACGCCTGA	0.617													False	0	False	12:111749924	0	T	111749924	C	T	111749924	3	4	88	1	0	0	0	0	1	0	0	0	4090	652	23	1	1983	1	CUX2	12	111749924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	400950	111749924	22101971	13299	21011											
CUX2	23316	broad.mit.edu	37	chr12	111758430	111758430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctactacccggcctacgtgCcgcgcaccctgaagcccacc	8	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111758430C>T	ENST00000261726.6	+	17	2771	c.2617C>T	c.(2617-2619)Ccg>Tcg	p.P873S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	873						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGCCTACGTGCCGCGCACCCT	0.716													False	0	False	12:111758430	0	T	111758430	C	T	111758430	3	4	88	1	0	0	0	0	1	0	0	0	4090	739	26	2	2683	2	CUX2	12	111758430	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8506	111758430	22093465	13300	21012											
CUX2	23316	broad.mit.edu	37	chr12	111758478	111758478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctgacccccgagcagtacGagctgtacatgtaccgtgag	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111758478G>A	ENST00000261726.6	+	17	2819	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	889						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CGAGCAGTACGAGCTGTACAT	0.682													False	0	False	12:111758478	0	A	111758478	G	A	111758478	3	1	88	1	0	0	0	0	1	0	0	0	4090	1059	37	1	2731	1	CUX2	12	111758478	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	111758478	22093417	13301	21013											
CUX2	23316	broad.mit.edu	37	chr12	111776115	111776115	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cggctgtttggggaaagcatCctgggtctgacacagggctc	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111776115C>T	ENST00000261726.6	+	20	3376	c.3222C>T	c.(3220-3222)atC>atT	p.I1074I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1074						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGAAAGCATCCTGGGTCTGA	0.622													False	0	False	12:111776115	0	T	111776115	C	T	111776115	2	4	88	1	0	0	0	0	0	0	0	1	4090	845	30	2		2	CUX2	12	111776115	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17637	111776115	22075780	13302	21014											
CUX2	23316	broad.mit.edu	37	chr12	111785782	111785782	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagagtgaggccggggagCgacttcacccggacccttta	15	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111785782C>T	ENST00000261726.6	+	22	4268	c.4114C>T	c.(4114-4116)Cga>Tga	p.R1372*		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1372	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGCCGGGGAGCGACTTCACCC	0.617													False	0	False	12:111785782	0	T	111785782	C	T	111785782	4	4	88	1	0	0	0	0	0	1	0	0	4090	760	27	1	4200	1	CUX2	12	111785782	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9667	111785782	22066113	13303	21015											
ATXN2	6311	broad.mit.edu	37	chr12	111895132	111895132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggtagcgttagggtgCgcatactgctgagcaaggga	17	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111895132C>T	ENST00000377617.3	-	22	3563	c.3402G>A	c.(3400-3402)gcG>gcA	p.A1134A	ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000608853.1_Silent_p.A974A|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Silent_p.A827A|ATXN2_ENST00000389153.4_Silent_p.A871A	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1134					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTAGGGTGCGCATACTGCT	0.537													False	0	False	12:111895132	0	T	111895132	C	T	111895132	2	4	88	1	0	0	0	0	0	0	0	1	1215	755	27	1		1	ATXN2	12	111895132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109350	111895132	21956763	13304	21016											
ACAD10	80724	broad.mit.edu	37	chr12	112182630	112182630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtggtgccccacaggcaGcaggagttatagctccgttc	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112182630G>A	ENST00000455480.2	+	14	2168	c.1991G>A	c.(1990-1992)aGc>aAc	p.S664N	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.S633N|ACAD10_ENST00000392636.2_Missense_Mutation_p.S235N|ACAD10_ENST00000549590.1_Missense_Mutation_p.S633N	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	633							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCCACAGGCAGCAGGAGTTAT	0.567													False	0	False	12:112182630	0	A	112182630	G	A	112182630	3	1	88	1	0	0	0	0	1	0	0	0	108	971	34	2	2041	2	ACAD10	12	112182630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287498	112182630	21669265	13305	21017											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112326328	112326328	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcaggctcacgcggaaCagttggccaacatgagaatc	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112326328C>T	ENST00000550735.2	+	11	1762	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	MAPKAPK5_ENST00000551404.2_Nonsense_Mutation_p.Q336*	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	336					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						TCACGCGGAACAGTTGGCCAA	0.493													False	0	False	12:112326328	0	T	112326328	C	T	112326328	4	4	88	1	0	0	0	0	0	1	0	0	9358	479	17	2	1048	2	MAPKAPK5	12	112326328	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143698	112326328	21525567	13306	21018											
NAA25	80018	broad.mit.edu	37	chr12	112481532	112481532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaggataccccattctcgGcagtcttctccgagttcttt	10	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112481532G>A	ENST00000261745.4	-	18	2395	c.2147C>T	c.(2146-2148)gCc>gTc	p.A716V		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	716						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCCATTCTCGGCAGTCTTCTC	0.478													False	0	False	12:112481532	0	A	112481532	G	A	112481532	3	1	88	1	0	0	0	0	1	0	0	0	10188	1203	42	2	799	2	NAA25	12	112481532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155204	112481532	21370363	13307	21019											
NAA25	80018	broad.mit.edu	37	chr12	112509715	112509715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacccagtttgtactcatcGttacaaccttgacttcgtaa	5	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112509715G>A	ENST00000261745.4	-	10	1268	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	340						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGTACTCATCGTTACAACCTT	0.423													False	0	False	12:112509715	0	A	112509715	G	A	112509715	2	1	88	1	0	0	0	0	0	0	0	1	10188	1136	40	1		1	NAA25	12	112509715	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28183	112509715	21342180	13308	21020											
NAA25	80018	broad.mit.edu	37	chr12	112509748	112509748	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcgtaaacgcctaatcagCtccaatttagctagatgtgg	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112509748C>A	ENST00000261745.4	-	10	1235	c.987G>T	c.(985-987)gaG>gaT	p.E329D		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	329						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GCCTAATCAGCTCCAATTTAG	0.413													False	0	False	12:112509748	0	A	112509748	C	A	112509748	3	1	88	1	0	0	0	0	1	0	0	0	10188	796	28	3	1991	3	NAA25	12	112509748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	112509748	21342147	13309	21021											
TRAFD1	10906	broad.mit.edu	37	chr12	112579955	112579955	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccccaaagagggtggtgaaGagagtgcaaacttggacttc	13	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112579955G>T	ENST00000257604.5	+	6	1323	c.706G>T	c.(706-708)Gag>Tag	p.E236*	TRAFD1_ENST00000412615.2_Nonsense_Mutation_p.E236*	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	236					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GGGTGGTGAAGAGAGTGCAAA	0.488													False	0	True	12:112579955	0	T	112579955	G	T	112579955	4	4	88	1	0	0	0	0	0	1	0	0	16530	943	33	3	724	3	TRAFD1	12	112579955	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70207	112579955	21271940	13310	21022											
PTPN11	5781	broad.mit.edu	37	chr12	112919958	112919958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttaggaacgtcaaagaaagCgccgctcatgactatacgct	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112919958C>T	ENST00000351677.2	+	10	1371	c.1173C>T	c.(1171-1173)agC>agT	p.S391S	PTPN11_ENST00000392597.1_Silent_p.S391S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	391	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TCAAAGAAAGCGCCGCTCATG	0.398			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				False	0	True	12:112919958	0	T	112919958	C	T	112919958	2	4	88	1	0	0	0	0	0	0	0	1	12857	767	27	1		1	PTPN11	12	112919958	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	340003	112919958	20931937	13311	21023											
RPH3A	22895	broad.mit.edu	37	chr12	113328755	113328755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgggcatcatacgctgCgtgcacctggctgccatgga	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113328755C>T	ENST00000389385.4	+	19	2219	c.1722C>T	c.(1720-1722)tgC>tgT	p.C574C	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Silent_p.C574C|RPH3A_ENST00000551052.1_Silent_p.C570C|RPH3A_ENST00000447659.2_Silent_p.C525C|RPH3A_ENST00000415485.3_Silent_p.C574C|RPH3A_ENST00000543106.2_Silent_p.C574C|RPH3A_ENST00000548866.1_Silent_p.C525C	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	574	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCATACGCTGCGTGCACCTGG	0.582													False	0	False	12:113328755	0	T	113328755	C	T	113328755	2	4	88	1	0	0	0	0	0	0	0	1	13630	776	27	1		1	RPH3A	12	113328755	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	408797	113328755	20523140	13312	21024											
OAS3	4940	broad.mit.edu	37	chr12	113405976	113405976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacagcagcttcagaagcCcaggttcaggtctaccccca	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113405976C>T	ENST00000228928.7	+	14	3280	c.3101C>T	c.(3100-3102)cCc>cTc	p.P1034L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1034	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTTCAGAAGCCCAGGTTCAGG	0.502													False	0	True	12:113405976	0	T	113405976	C	T	113405976	3	4	88	1	0	0	0	0	1	0	0	0	10869	623	22	2	3155	2	OAS3	12	113405976	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77221	113405976	20445919	13313	21025											
OAS3	4940	broad.mit.edu	37	chr12	113407771	113407771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tataatacttccccaggctgCtgtgtgaagttgagaaaatc	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113407771C>A	ENST00000228928.7	+	16	3436	c.3257C>A	c.(3256-3258)gCt>gAt	p.A1086D	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1086					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCCCAGGCTGCTGTGTGAAGT	0.502													False	0	True	12:113407771	0	A	113407771	C	A	113407771	3	1	88	1	0	0	0	0	1	0	0	0	10869	797	28	3	3319	3	OAS3	12	113407771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1795	113407771	20444124	13314	21026											
DTX1	1840	broad.mit.edu	37	chr12	113496015	113496015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatgtcacggccaggccaCggtgggctgatgcctgtgaa	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496015C>T	ENST00000257600.3	+	1	521	c.18C>T	c.(16-18)caC>caT	p.H6H		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	6					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCCAGGCCACGGTGGGCTGA	0.687													False	0	False	12:113496015	0	T	113496015	C	T	113496015	2	4	88	1	0	0	0	0	0	0	0	1	4823	535	19	1		1	DTX1	12	113496015	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88244	113496015	20355880	13315	21027											
DTX1	1840	broad.mit.edu	37	chr12	113496122	113496122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctggcggccctacacggCcaccgtgtgccaccacattg	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496122C>T	ENST00000257600.3	+	1	628	c.125C>T	c.(124-126)gCc>gTc	p.A42V		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	42	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CCCTACACGGCCACCGTGTGC	0.647													False	0	False	12:113496122	0	T	113496122	C	T	113496122	3	4	88	1	0	0	0	0	1	0	0	0	4823	739	26	2	127	2	DTX1	12	113496122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107	113496122	20355773	13316	21028											
DTX1	1840	broad.mit.edu	37	chr12	113496220	113496220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcttgtgccctacatcatcGacctgcagtccatgcaccag	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496220G>A	ENST00000257600.3	+	1	726	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	75	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTACATCATCGACCTGCAGTC	0.637													False	0	False	12:113496220	0	A	113496220	G	A	113496220	3	1	88	1	0	0	0	0	1	0	0	0	4823	1058	37	1	225	1	DTX1	12	113496220	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98	113496220	20355675	13317	21029											
DTX1	1840	broad.mit.edu	37	chr12	113534527	113534527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtccccccaggtgctgcGgctgctcatcacggcctggg	13	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113534527G>A	ENST00000257600.3	+	9	2149	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	549					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.R549Q(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CAGGTGCTGCGGCTGCTCATC	0.647													False	0	False	12:113534527	0	A	113534527	G	A	113534527	3	1	88	1	0	0	0	0	1	0	0	0	4823	1116	39	1	1680	1	DTX1	12	113534527	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38307	113534527	20317368	13318	21030											
RASAL1	8437	broad.mit.edu	37	chr12	113537779	113537779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccttccctcgctcctgctgCtggaactcctcgtgggcacg	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113537779C>A	ENST00000546530.1	-	22	2661	c.2376G>T	c.(2374-2376)caG>caT	p.Q792H	RASAL1_ENST00000446861.3_Missense_Mutation_p.Q762H|RASAL1_ENST00000548055.1_Missense_Mutation_p.Q791H|RASAL1_ENST00000261729.5_Missense_Mutation_p.Q790H	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	790					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCTCCTGCTGCTGGAACTCCT	0.672													False	0	True	12:113537779	0	A	113537779	C	A	113537779	3	1	88	1	0	0	0	0	1	0	0	0	13142	796	28	3	48	3	RASAL1	12	113537779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3252	113537779	20314116	13319	21031											
RASAL1	8437	broad.mit.edu	37	chr12	113545942	113545942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggtccgcgtgttggtccCgaaggtcaaacagctttggg	17	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113545942C>T	ENST00000546530.1	-	15	1748	c.1463G>A	c.(1462-1464)cGg>cAg	p.R488Q	RASAL1_ENST00000446861.3_Missense_Mutation_p.R487Q|RASAL1_ENST00000548055.1_Missense_Mutation_p.R487Q|RASAL1_ENST00000261729.5_Missense_Mutation_p.R487Q|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	487	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GTGTTGGTCCCGAAGGTCAAA	0.557													False	0	True	12:113545942	0	T	113545942	C	T	113545942	3	4	88	1	0	0	0	0	1	0	0	0	13142	652	23	1	986	1	RASAL1	12	113545942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8163	113545942	20305953	13320	21032											
RASAL1	8437	broad.mit.edu	37	chr12	113553024	113553024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttcataaactgttccatcGacttggatgccagggagtta	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113553024G>A	ENST00000546530.1	-	12	1334	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L	RASAL1_ENST00000446861.3_Missense_Mutation_p.S350L|RASAL1_ENST00000548055.1_Missense_Mutation_p.S350L|RASAL1_ENST00000261729.5_Missense_Mutation_p.S350L|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	350	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTGTTCCATCGACTTGGATGC	0.572													False	0	False	12:113553024	0	A	113553024	G	A	113553024	3	1	88	1	0	0	0	0	1	0	0	0	13142	1059	37	1	1409	1	RASAL1	12	113553024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7082	113553024	20298871	13321	21033											
RASAL1	8437	broad.mit.edu	37	chr12	113556937	113556937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaatgaggctcaccatgCccaagaagtcattcttgccc	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113556937C>T	ENST00000546530.1	-	8	923	c.638G>A	c.(637-639)gGc>gAc	p.G213D	RASAL1_ENST00000446861.3_Missense_Mutation_p.G213D|RASAL1_ENST00000548055.1_Missense_Mutation_p.G213D|RASAL1_ENST00000261729.5_Missense_Mutation_p.G213D|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	213	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCTCACCATGCCCAAGAAGTC	0.612													False	0	True	12:113556937	0	T	113556937	C	T	113556937	3	4	88	1	0	0	0	0	1	0	0	0	13142	739	26	2	1836	2	RASAL1	12	113556937	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3913	113556937	20294958	13322	21034											
DDX54	79039	broad.mit.edu	37	chr12	113599090	113599090	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttggccacggtctcGcttcccacctcttcgctctg	7	19	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113599090G>A	ENST00000314045.7	-	19	2425	c.2398C>T	c.(2398-2400)Cga>Tga	p.R800*	DDX54_ENST00000306014.5_Nonsense_Mutation_p.R800*|DDX54_ENST00000549271.1_5'UTR	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	800					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCACGGTCTCGCTTCCCACCT	0.572													False	0	False	12:113599090	0	A	113599090	G	A	113599090	4	1	88	1	0	0	0	0	0	1	0	0	4397	1095	38	1	258	1	DDX54	12	113599090	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42153	113599090	20252805	13323	21035											
DDX54	79039	broad.mit.edu	37	chr12	113603721	113603721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgggcgttatcagcaaCgcgggccaggccccgtagct	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113603721C>T	ENST00000314045.7	-	13	1558	c.1531G>A	c.(1531-1533)Gtt>Att	p.V511I	DDX54_ENST00000306014.5_Missense_Mutation_p.V511I	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	511					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTATCAGCAACGCGGGCCAGG	0.662													False	0	False	12:113603721	0	T	113603721	C	T	113603721	3	4	88	1	0	0	0	0	1	0	0	0	4397	536	19	1	1149	1	DDX54	12	113603721	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4631	113603721	20248174	13324	21036											
C12orf52	84934	broad.mit.edu	37	chr12	113629192	113629192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgccagcttcggggcccCgcggatggcgaagggggatg	20	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113629192C>T	ENST00000548278.1	+	4	1072	c.380C>T	c.(379-381)cCg>cTg	p.P127L	C12orf52_ENST00000552495.1_Missense_Mutation_p.P151L|C12orf52_ENST00000549621.1_Missense_Mutation_p.P127L|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	127					negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						TTCGGGGCCCCGCGGATGGCG	0.647													False	0	True	12:113629192	0	T	113629192	C	T	113629192	3	4	88	1	0	0	0	0	1	0	0	0	1706	652	23	1	386	1	C12orf52	12	113629192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25471	113629192	20222703	13325	21037											
TPCN1	53373	broad.mit.edu	37	chr12	113698178	113698178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttccaatgcagatggcGgcagctatgccatccacgac	9	15	1	1	rs138959802	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113698178G>A	ENST00000550785.1	+	4	503	c.334G>A	c.(334-336)Ggc>Agc	p.G112S	TPCN1_ENST00000392569.4_5'UTR|TPCN1_ENST00000335509.6_Missense_Mutation_p.G40S|TPCN1_ENST00000541517.1_Missense_Mutation_p.G112S	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	40						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGCAGATGGCGGCAGCTATGC	0.552													False	0	False	12:113698178	0	A	113698178	G	A	113698178	3	1	88	1	0	0	0	0	1	0	0	0	16478	1116	39	1	344	1	TPCN1	12	113698178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68986	113698178	20153717	13326	21038											
TPCN1	53373	broad.mit.edu	37	chr12	113729700	113729700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgatgacgatcattgtcGcctttatcctcgaggccttc	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113729700G>A	ENST00000550785.1	+	26	2435	c.2266G>A	c.(2266-2268)Gcc>Acc	p.A756T	TPCN1_ENST00000392569.4_Missense_Mutation_p.A616T|TPCN1_ENST00000335509.6_Missense_Mutation_p.A684T|TPCN1_ENST00000541517.1_Missense_Mutation_p.A756T	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	684						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GATCATTGTCGCCTTTATCCT	0.597													False	0	False	12:113729700	0	A	113729700	G	A	113729700	3	1	88	1	0	0	0	0	1	0	0	0	16478	1087	38	1	2364	1	TPCN1	12	113729700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31522	113729700	20122195	13327	21039											
PLBD2	196463	broad.mit.edu	37	chr12	113810480	113810480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatgcactggatgaacacGgtggtgaattactgcggccc	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113810480G>A	ENST00000280800.3	+	3	442	c.411G>A	c.(409-411)acG>acA	p.T137T	PLBD2_ENST00000545182.2_Silent_p.T137T	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	137					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGATGAACACGGTGGTGAATT	0.612													False	0	False	12:113810480	0	A	113810480	G	A	113810480	2	1	88	1	0	0	0	0	0	0	0	1	12095	1103	39	1		1	PLBD2	12	113810480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80780	113810480	20041415	13328	21040											
PLBD2	196463	broad.mit.edu	37	chr12	113822071	113822071	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggttcaacagcggcacGtgagtgggcttctggccctg	15	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113822071G>A	ENST00000280800.3	+	7	1149		c.e7+1		PLBD2_ENST00000545182.2_Splice_Site	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2						lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ACAGCGGCACGTGAGTGGGCT	0.622													False	0	False	12:113822071	0	A	113822071	G	A	113822071	5	1	88	1	0	0	0	0	0	0	1	0	12095	1159	40	1	1145	1	PLBD2	12	113822071	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11591	113822071	20029824	13329	21041											
PLBD2	196463	broad.mit.edu	37	chr12	113824778	113824778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatgccagtgggctgcaGgccctagtggcccagtatgg	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113824778G>A	ENST00000280800.3	+	10	1354	c.1323G>A	c.(1321-1323)caG>caA	p.Q441Q	PLBD2_ENST00000545182.2_Silent_p.Q409Q	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	441					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GTGGGCTGCAGGCCCTAGTGG	0.612													False	0	False	12:113824778	0	A	113824778	G	A	113824778	2	1	88	1	0	0	0	0	0	0	0	1	12095	991	35	2		2	PLBD2	12	113824778	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2707	113824778	20027117	13330	21042											
PLBD2	196463	broad.mit.edu	37	chr12	113825591	113825591	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctctgtcactgtgcaaagcCtgcaacccccagcccaatgg	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113825591C>A	ENST00000280800.3	+	11	1513	c.1482C>A	c.(1480-1482)gcC>gcA	p.A494A	PLBD2_ENST00000545182.2_Silent_p.A462A	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	494					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TGTGCAAAGCCTGCAACCCCC	0.607													False	0	False	12:113825591	0	A	113825591	C	A	113825591	2	1	88	1	0	0	0	0	0	0	0	1	12095	668	24	3		3	PLBD2	12	113825591	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	813	113825591	20026304	13331	21043											
RBM19	9904	broad.mit.edu	37	chr12	114282486	114282486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctaccgtgaaagtgagcGgccgtcttccgccgcagggc	13	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114282486G>A	ENST00000545145.2	-	23	2850	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	RBM19_ENST00000261741.5_Silent_p.A924A|RBM19_ENST00000392561.3_Silent_p.A924A	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	924					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAAGTGAGCGGCCGTCTTCC	0.652													False	0	False	12:114282486	0	A	114282486	G	A	114282486	2	1	88	1	0	0	0	0	0	0	0	1	13200	1103	39	1		1	RBM19	12	114282486	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	456895	114282486	19569409	13332	21044											
RBM19	9904	broad.mit.edu	37	chr12	114377943	114377943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcttgaccagaatcacaGtcttgcttcgctctgctgca	9	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114377943G>A	ENST00000545145.2	-	15	1838	c.1760C>T	c.(1759-1761)aCt>aTt	p.T587I	RBM19_ENST00000261741.5_Missense_Mutation_p.T587I|RBM19_ENST00000392561.3_Missense_Mutation_p.T587I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	587	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CAGAATCACAGTCTTGCTTCG	0.637													False	0	False	12:114377943	0	A	114377943	G	A	114377943	3	1	88	1	0	0	0	0	1	0	0	0	13200	1029	36	2	1162	2	RBM19	12	114377943	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95457	114377943	19473952	13333	21045											
RBM19	9904	broad.mit.edu	37	chr12	114385222	114385222	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgaatgcaaaacccttggGtttcttggtcaggctgtcga	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114385222G>T	ENST00000545145.2	-	11	1402	c.1324C>A	c.(1324-1326)Ccc>Acc	p.P442T	RBM19_ENST00000261741.5_Missense_Mutation_p.P442T|RBM19_ENST00000392561.3_Missense_Mutation_p.P442T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	442	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AAACCCTTGGGTTTCTTGGTC	0.602													False	0	True	12:114385222	0	T	114385222	G	T	114385222	3	4	88	1	0	0	0	0	1	0	0	0	13200	1261	44	3	1614	3	RBM19	12	114385222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7279	114385222	19466673	13334	21046											
TBX5	6910	broad.mit.edu	37	chr12	114823291	114823291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actttcctacctttgcattcTtgacattctgtgcagctcca	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114823291T>C	ENST00000310346.4	-	7	1411	c.745A>G	c.(745-747)Aga>Gga	p.R249G	TBX5_ENST00000405440.2_Missense_Mutation_p.R249G|TBX5_ENST00000349716.5_Missense_Mutation_p.R199G|TBX5_ENST00000526441.1_Missense_Mutation_p.R249G	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	249					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTTTGCATTCTTGACATTCTG	0.483													False	0	False	12:114823291	0	C	114823291	T	C	114823291	3	2	88	1	0	0	0	0	1	0	0	0	15743	1617	56	4	890	4	TBX5	12	114823291	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	438069	114823291	19028604	13335	21047											
TBX3	6926	broad.mit.edu	37	chr12	115120759	115120759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcctcagatgcgcctgggGccccagggaggagaacggga	18	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:115120759G>A	ENST00000349155.2	-	1	1210	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	TBX3_ENST00000257566.3_Missense_Mutation_p.P83S	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	83					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGCGCCTGGGGCCCCAGGGAG	0.657													False	0	True	12:115120759	0	A	115120759	G	A	115120759	3	1	88	1	0	0	0	0	1	0	0	0	15741	1203	42	2	2016	2	TBX3	12	115120759	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297468	115120759	18731136	13336	21048											
MED13L	23389	broad.mit.edu	37	chr12	116410035	116410035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacattctccaaggaggataCtccaatctgaaatcaaatat	5	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116410035C>T	ENST00000281928.3	-	26	5944	c.5738G>A	c.(5737-5739)aGt>aAt	p.S1913N		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1913					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGGAGGATACTCCAATCTGA	0.418													False	0	False	12:116410035	0	T	116410035	C	T	116410035	3	4	88	1	0	0	0	0	1	0	0	0	9498	565	20	2	918	2	MED13L	12	116410035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1289276	116410035	17441860	13337	21049											
MED13L	23389	broad.mit.edu	37	chr12	116446921	116446921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgggcccgactgcacaacGttttaaaagcttatgcctaa	8	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116446921G>A	ENST00000281928.3	-	10	1503	c.1297C>T	c.(1297-1299)Cgt>Tgt	p.R433C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	433					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACTGCACAACGTTTTAAAAGC	0.383													False	0	True	12:116446921	0	A	116446921	G	A	116446921	3	1	88	1	0	0	0	0	1	0	0	0	9498	1145	40	1	5423	1	MED13L	12	116446921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36886	116446921	17404974	13338	21050											
MED13L	23389	broad.mit.edu	37	chr12	116714891	116714891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagaggttggagtgacaatCctccaggctcgccccgttcg	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116714891C>T	ENST00000281928.3	-	1	252	c.46G>A	c.(46-48)Gat>Aat	p.D16N		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	16					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GAGTGACAATCCTCCAGGCTC	0.716													False	0	False	12:116714891	0	T	116714891	C	T	116714891	3	4	88	1	0	0	0	0	1	0	0	0	9498	855	30	2	6710	2	MED13L	12	116714891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267970	116714891	17137004	13339	21051											
MAP1LC3B2	643246	broad.mit.edu	37	chr12	117013978	117013978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacagctcaatgctaatcaGgccttcttcctgttggtgaa	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117013978G>A	ENST00000306985.4	+	2	385	c.231G>A	c.(229-231)caG>caA	p.Q77Q	MAP1LC3B2_ENST00000556529.1_Silent_p.Q77Q	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	77					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						ATGCTAATCAGGCCTTCTTCC	0.448													False	0	False	12:117013978	0	A	117013978	G	A	117013978	2	1	88	1	0	0	0	0	0	0	0	1	9299	991	35	2		2	MAP1LC3B2	12	117013978	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299087	117013978	16837917	13340	21052											
C12orf49	79794	broad.mit.edu	37	chr12	117155658	117155658	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctttctccatagcaatacTttgctatggggtcccggtag	11	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117155658T>G	ENST00000261318.3	-	5	735	c.575A>C	c.(574-576)aAg>aCg	p.K192T	C12orf49_ENST00000536380.1_Missense_Mutation_p.K162T|C12orf49_ENST00000548356.1_Missense_Mutation_p.K33T	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	192						extracellular region				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		ATAGCAATACTTTGCTATGGG	0.587													False	0	True	12:117155658	0	G	117155658	T	G	117155658	3	3	88	1	0	0	0	0	1	0	0	0	1702	1609	56	4	46	4	C12orf49	12	117155658	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	141680	117155658	16696237	13341	21053											
RNFT2	84900	broad.mit.edu	37	chr12	117187661	117187661	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaaaccgcagccaggcGctcagctccgaggcgagtgt	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117187661G>A	ENST00000257575.4	+	4	332	c.99G>A	c.(97-99)gcG>gcA	p.A33A	RNFT2_ENST00000407967.3_Silent_p.A33A|RNFT2_ENST00000392549.2_Silent_p.A33A|RNFT2_ENST00000319176.7_Silent_p.A33A			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	33						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GCAGCCAGGCGCTCAGCTCCG	0.582													False	0	False	12:117187661	0	A	117187661	G	A	117187661	2	1	88	1	0	0	0	0	0	0	0	1	13581	1074	38	1		1	RNFT2	12	117187661	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32003	117187661	16664234	13342	21054											
TESC	54997	broad.mit.edu	37	chr12	117484630	117484630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcgctgtccgagtcgtaCatgtggaacagaactagggt	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117484630C>T	ENST00000335209.7	-	5	549	c.363G>A	c.(361-363)atG>atA	p.M121I	TESC_ENST00000392545.4_Missense_Mutation_p.M174I|TESC_ENST00000535198.1_5'UTR|TESC_ENST00000541210.1_Missense_Mutation_p.M94I			Q96BS2	TESC_HUMAN	tescalcin	121	EF-hand.				negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CCGAGTCGTACATGTGGAACA	0.592													False	0	False	12:117484630	0	T	117484630	C	T	117484630	3	4	88	1	0	0	0	0	1	0	0	0	15848	478	17	2	297	2	TESC	12	117484630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	296969	117484630	16367265	13343	21055											
TESC	54997	broad.mit.edu	37	chr12	117494618	117494618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaaacgcccacctgttgtCgaagaaggcacgaacaattt	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117494618C>T	ENST00000335209.7	-	3	388	c.202G>A	c.(202-204)Gac>Aac	p.D68N	TESC_ENST00000392545.4_Missense_Mutation_p.D121N|TESC_ENST00000541210.1_Intron			Q96BS2	TESC_HUMAN	tescalcin	68					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	p.D121N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CACCTGTTGTCGAAGAAGGCA	0.517													False	0	False	12:117494618	0	T	117494618	C	T	117494618	3	4	88	1	0	0	0	0	1	0	0	0	15848	884	31	1	466	1	TESC	12	117494618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9988	117494618	16357277	13344	21056											
FBXO21	23014	broad.mit.edu	37	chr12	117595739	117595739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgcttctcatcggagcGcagcttcacctctacgccca	8	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117595739G>A	ENST00000427718.2	-	10	1530	c.1456C>T	c.(1456-1458)Cgc>Tgc	p.R486C	FBXO21_ENST00000330622.5_Missense_Mutation_p.R493C	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	493					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TCATCGGAGCGCAGCTTCACC	0.587													False	0	False	12:117595739	0	A	117595739	G	A	117595739	3	1	88	1	0	0	0	0	1	0	0	0	5773	1087	38	1	421	1	FBXO21	12	117595739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101121	117595739	16256156	13345	21057											
NOS1	4842	broad.mit.edu	37	chr12	117693744	117693744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acacatgcacactctacctgTgctggctgtcacgggctgca	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117693744T>C	ENST00000338101.4	-	16	2634	c.2630A>G	c.(2629-2631)cAc>cGc	p.H877R	NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron			P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	844	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACTCTACCTGTGCTGGCTGTC	0.582													False	0	True	12:117693744	0	C	117693744	T	C	117693744	3	2	88	1	0	0	0	0	1	0	0	0	10609	1711	59	4		4	NOS1	12	117693744	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	98005	117693744	16158151	13346	21058											
NOS1	4842	broad.mit.edu	37	chr12	117703293	117703293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actcggtggcggagtgatggTcaacaatggtcactttgtca	13	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117703293T>C	ENST00000317775.6	-	12	2649	c.1964A>G	c.(1963-1965)gAc>gGc	p.D655G	NOS1_ENST00000338101.4_Missense_Mutation_p.D655G|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	655					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGAGTGATGGTCAACAATGGT	0.597													False	0	False	12:117703293	0	C	117703293	T	C	117703293	3	2	88	1	0	0	0	0	1	0	0	0	10609	1667	58	4	2412	4	NOS1	12	117703293	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9549	117703293	16148602	13347	21059											
NOS1	4842	broad.mit.edu	37	chr12	117768514	117768514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaggggctgtgtcacccGgatggtcttgggggtcccat	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117768514G>A	ENST00000317775.6	-	2	1046	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	NOS1_ENST00000338101.4_Missense_Mutation_p.R121W|NOS1_ENST00000344089.3_Missense_Mutation_p.R121W	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	121	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGTGTCACCCGGATGGTCTTG	0.647													False	0	True	12:117768514	0	A	117768514	G	A	117768514	3	1	88	1	0	0	0	0	1	0	0	0	10609	1115	39	1	4055	1	NOS1	12	117768514	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65221	117768514	16083381	13348	21060											
KSR2	283455	broad.mit.edu	37	chr12	117914325	117914325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttatcctcctctgtgtcGggggacagctggcggatgat	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117914325G>A	ENST00000425217.1	-	17	2493	c.2439C>T	c.(2437-2439)ccC>ccT	p.P813P	KSR2_ENST00000339824.5_Silent_p.P842P|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	842	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCTGTGTCGGGGGACAGCT	0.602													False	0	True	12:117914325	0	A	117914325	G	A	117914325	2	1	88	1	0	0	0	0	0	0	0	1	8633	1103	39	1		1	KSR2	12	117914325	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145811	117914325	15937570	13349	21061											
WSB2	55884	broad.mit.edu	37	chr12	118474256	118474256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagtcacaagagacaacactGctttgatggccctctagctt	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118474256G>T	ENST00000315436.3	-	6	861	c.720C>A	c.(718-720)agC>agA	p.S240R	WSB2_ENST00000535496.1_Missense_Mutation_p.S242R|WSB2_ENST00000441406.2_Missense_Mutation_p.S257R|WSB2_ENST00000544233.1_Missense_Mutation_p.S30R|WSB2_ENST00000542304.1_Missense_Mutation_p.S15R|WSB2_ENST00000536738.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	240					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGACAACACTGCTTTGATGGC	0.512													False	0	False	12:118474256	0	T	118474256	G	T	118474256	3	4	88	1	0	0	0	0	1	0	0	0	17489	1310	46	3	510	3	WSB2	12	118474256	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	559931	118474256	15377639	13350	21062											
WSB2	55884	broad.mit.edu	37	chr12	118480730	118480730	+	Translation_Start_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccactgggtgtgaagctcaGatctctcacgacatcttggt	11	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118480730G>T	ENST00000542304.1	-	0	395				WSB2_ENST00000535496.1_Missense_Mutation_p.L161M|WSB2_ENST00000315436.3_Missense_Mutation_p.L159M|WSB2_ENST00000441406.2_Missense_Mutation_p.L176M|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000536738.1_5'UTR			Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2						intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGAAGCTCAGATCTCTCACG	0.557													False	0	False	12:118480730	0	T	118480730	G	T	118480730	1	4	88	1	0	0	0	0	0	0	0	0	17489	933	33	3		3	WSB2	12	118480730	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6474	118480730	15371165	13351	21063											
SUDS3	64426	broad.mit.edu	37	chr12	118829014	118829014	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaaggttgagctgaaagaGaacctgattgctgagctaga	13	5	0	7			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118829014G>T	ENST00000543473.1	+	6	756	c.444G>T	c.(442-444)gaG>gaT	p.E148D	SUDS3_ENST00000397564.2_Missense_Mutation_p.E149D	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	148					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTGAAAGAGAACCTGATTG	0.398													False	0	False	12:118829014	0	T	118829014	G	T	118829014	3	4	88	1	0	0	0	0	1	0	0	0	15449	933	33	3	466	3	SUDS3	12	118829014	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	348284	118829014	15022881	13352	21064											
SRRM4	84530	broad.mit.edu	37	chr12	119559878	119559878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatttcttgtttagctcCtctagcccaaaaagcaaaag	6	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119559878C>T	ENST00000267260.4	+	6	856	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	156	Lys-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TGTTTAGCTCCTCTAGCCCAA	0.373													False	0	False	12:119559878	0	T	119559878	C	T	119559878	2	4	88	1	0	0	0	0	0	0	0	1	15253	668	24	2		2	SRRM4	12	119559878	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	730864	119559878	14292017	13353	21065											
SRRM4	84530	broad.mit.edu	37	chr12	119568492	119568492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatccccaggcaccgcggCcggtcccctgaggaagggca	13	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568492C>T	ENST00000267260.4	+	8	1012	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	208	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCACCGCGGCCGGTCCCCTG	0.632													False	0	False	12:119568492	0	T	119568492	C	T	119568492	2	4	88	1	0	0	0	0	0	0	0	1	15253	726	26	2		2	SRRM4	12	119568492	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8614	119568492	14283403	13354	21066											
SRRM4	84530	broad.mit.edu	37	chr12	119568590	119568590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggcccagtccagtcgccCgcccagtcaacccctccaga	9	19	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568590C>T	ENST00000267260.4	+	8	1110	c.722C>T	c.(721-723)cCg>cTg	p.P241L	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	241	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCCAGTCGCCCGCCCAGTCAA	0.647													False	0	True	12:119568590	0	T	119568590	C	T	119568590	3	4	88	1	0	0	0	0	1	0	0	0	15253	652	23	1	752	1	SRRM4	12	119568590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98	119568590	14283305	13355	21067											
SRRM4	84530	broad.mit.edu	37	chr12	119568613	119568613	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcaacccctccagatgCttggctacctgtcagccagg	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568613C>A	ENST00000267260.4	+	8	1133	c.745C>A	c.(745-747)Ctt>Att	p.L249I	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	249	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTCCAGATGCTTGGCTACCT	0.622													False	0	False	12:119568613	0	A	119568613	C	A	119568613	3	1	88	1	0	0	0	0	1	0	0	0	15253	797	28	3	775	3	SRRM4	12	119568613	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23	119568613	14283282	13356	21068											
SRRM4	84530	broad.mit.edu	37	chr12	119592113	119592113	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcgcgagcgagcgcgtcggaGacgtcggtcctactcgccta	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119592113G>T	ENST00000267260.4	+	12	1845	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	486	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCGCGTCGGAGACGTCGGTCC	0.682													False	0	False	12:119592113	0	T	119592113	G	T	119592113	3	4	88	1	0	0	0	0	1	0	0	0	15253	942	33	3	1503	3	SRRM4	12	119592113	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23500	119592113	14259782	13357	21069											
SRRM4	84530	broad.mit.edu	37	chr12	119592129	119592129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagacgtcggtcctactcGcctatgagaaagcgccggag	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119592129G>A	ENST00000267260.4	+	12	1861	c.1473G>A	c.(1471-1473)tcG>tcA	p.S491S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	491	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGTCCTACTCGCCTATGAGAA	0.667													False	0	False	12:119592129	0	A	119592129	G	A	119592129	2	1	88	1	0	0	0	0	0	0	0	1	15253	1074	38	1		1	SRRM4	12	119592129	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16	119592129	14259766	13358	21070											
HSPB8	26353	broad.mit.edu	37	chr12	119631653	119631653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacagccaggaagtcaCctgtacctgagatgccagta	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119631653C>T	ENST00000281938.2	+	3	1252	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	194					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGAAGTCACCTGTACCTGA	0.507													False	0	False	12:119631653	0	T	119631653	C	T	119631653	3	4	88	1	0	0	0	0	1	0	0	0	7473	507	18	2	591	2	HSPB8	12	119631653	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39524	119631653	14220242	13359	21071											
CCDC60	160777	broad.mit.edu	37	chr12	119909945	119909945	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agccgaaaagatctcagaaaTccactatggggacaccttat	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119909945T>A	ENST00000327554.2	+	3	782	c.317T>A	c.(316-318)aTc>aAc	p.I106N	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	106										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATCTCAGAAATCCACTATGGG	0.448													False	0	True	12:119909945	0	A	119909945	T	A	119909945	3	1	88	1	0	0	0	0	1	0	0	0	2852	1435	50	5	327	5	CCDC60	12	119909945	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	278292	119909945	13941950	13360	21072											
CCDC60	160777	broad.mit.edu	37	chr12	119916949	119916949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagctagagtcacacgtcGcccattcactcccatccaca	8	16	2	1	rs144234053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119916949G>A	ENST00000327554.2	+	4	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	131								p.R131H(3)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACACGTCGCCCATTCACT	0.473													False	0	True	12:119916949	0	A	119916949	G	A	119916949	3	1	88	1	0	0	0	0	1	0	0	0	2852	1087	38	1	406	1	CCDC60	12	119916949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7004	119916949	13934946	13361	21073											
CCDC60	160777	broad.mit.edu	37	chr12	119957964	119957964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaacaagagtaattctgCttataaggaaatgcagacca	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119957964C>T	ENST00000327554.2	+	9	1472	c.1007C>T	c.(1006-1008)gCt>gTt	p.A336V	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	336										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTAATTCTGCTTATAAGGAA	0.473													False	0	False	12:119957964	0	T	119957964	C	T	119957964	3	4	88	1	0	0	0	0	1	0	0	0	2852	797	28	2	1041	2	CCDC60	12	119957964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41015	119957964	13893931	13362	21074											
CCDC60	160777	broad.mit.edu	37	chr12	119961570	119961570	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagggccaagttttacagCgtagcccaggaggctggctt	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119961570C>T	ENST00000327554.2	+	11	1641	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	392										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTTTTACAGCGTAGCCCAGG	0.483													False	0	False	12:119961570	0	T	119961570	C	T	119961570	2	4	88	1	0	0	0	0	0	0	0	1	2852	767	27	1		1	CCDC60	12	119961570	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3606	119961570	13890325	13363	21075											
PRKAB1	5564	broad.mit.edu	37	chr12	120114475	120114475	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaaggacacggggatttcCgtaagtatgtgggcatctgc	13	8	1	0	rs146667625		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120114475C>T	ENST00000229328.5	+	5	1158	c.666C>T	c.(664-666)tcC>tcT	p.S222S	PRKAB1_ENST00000541640.1_Splice_Site_p.S222S|PRKAB1_ENST00000540121.1_Splice_Site_p.S56S	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	222					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	CGGGGATTTCCGTAAGTATGT	0.572													False	0	False	12:120114475	0	T	120114475	C	T	120114475	5	4	88	1	0	0	0	0	0	0	1	0	12571	666	23	1	684	1	PRKAB1	12	120114475	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152905	120114475	13737420	13364	21076											
CIT	11113	broad.mit.edu	37	chr12	120135797	120135797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccctgctgaggagcgtgCctggatctcaattacttcga	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120135797C>T	ENST00000392521.2	-	45	5741	c.5686G>A	c.(5686-5688)Gca>Aca	p.A1896T	CIT_ENST00000261833.7_Missense_Mutation_p.A1854T|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1854					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGGAGCGTGCCTGGATCTCA	0.532													False	0	False	12:120135797	0	T	120135797	C	T	120135797	3	4	88	1	0	0	0	0	1	0	0	0	3461	739	26	2	539	2	CIT	12	120135797	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21322	120135797	13716098	13365	21077											
CIT	11113	broad.mit.edu	37	chr12	120139738	120139738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattggtgaagtggatacagCtgcagggctctgaggtctct	14	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120139738C>T	ENST00000392521.2	-	42	5385	c.5330G>A	c.(5329-5331)aGc>aAc	p.S1777N	CIT_ENST00000261833.7_Missense_Mutation_p.S1735N|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1735	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTGGATACAGCTGCAGGGCTC	0.498													False	0	False	12:120139738	0	T	120139738	C	T	120139738	3	4	88	1	0	0	0	0	1	0	0	0	3461	797	28	2	907	2	CIT	12	120139738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3941	120139738	13712157	13366	21078											
CIT	11113	broad.mit.edu	37	chr12	120168356	120168356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagagcctgctgcagagCgagaatctcagccttgtgct	12	10	1	3	rs146605071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120168356C>T	ENST00000392521.2	-	27	3485	c.3430G>A	c.(3430-3432)Gct>Act	p.A1144T	CIT_ENST00000261833.7_Missense_Mutation_p.A1102T|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1102	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGCTGCAGAGCGAGAATCTCA	0.562													False	0	False	12:120168356	0	T	120168356	C	T	120168356	3	4	88	1	0	0	0	0	1	0	0	0	3461	768	27	1	2867	1	CIT	12	120168356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28618	120168356	13683539	13367	21079											
CIT	11113	broad.mit.edu	37	chr12	120195263	120195263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagctgctcctccagttttCggttctgggcctccaacttc	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120195263C>T	ENST00000392521.2	-	22	2673	c.2618G>A	c.(2617-2619)cGa>cAa	p.R873Q	CIT_ENST00000261833.7_Missense_Mutation_p.R831Q|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	831					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCAGTTTTCGGTTCTGGGC	0.542													False	0	True	12:120195263	0	T	120195263	C	T	120195263	3	4	88	1	0	0	0	0	1	0	0	0	3461	884	31	1	3699	1	CIT	12	120195263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26907	120195263	13656632	13368	21080											
CCDC64	92558	broad.mit.edu	37	chr12	120436420	120436420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctggagagtgatgtgaaGcagctacaggatgagttgga	17	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120436420G>A	ENST00000397558.2	+	2	525	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	175					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGATGTGAAGCAGCTACAGG	0.517													False	0	False	12:120436420	0	A	120436420	G	A	120436420	2	1	88	1	0	0	0	0	0	0	0	1	2856	962	34	2		2	CCDC64	12	120436420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	241157	120436420	13415475	13369	21081											
CCDC64	92558	broad.mit.edu	37	chr12	120502561	120502561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgctgtcagatcggaaaCgggagctggagcatcgtctc	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120502561C>T	ENST00000397558.2	+	4	787	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	CCDC64_ENST00000446727.2_Missense_Mutation_p.R7W	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	263					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGATCGGAAACGGGAGCTGGA	0.567													False	0	True	12:120502561	0	T	120502561	C	T	120502561	3	4	88	1	0	0	0	0	1	0	0	0	2856	527	19	1	801	1	CCDC64	12	120502561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66141	120502561	13349334	13370	21082											
GCN1L1	10985	broad.mit.edu	37	chr12	120568522	120568522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggtgtctcatgagaaaGcccatgccccggaccccgct	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120568522G>A	ENST00000300648.6	-	56	7611	c.7599C>T	c.(7597-7599)ggC>ggT	p.G2533G		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2533					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGAGAAAGCCCATGCCCC	0.612													False	0	True	12:120568522	0	A	120568522	G	A	120568522	2	1	88	1	0	0	0	0	0	0	0	1	6342	958	34	2		2	GCN1L1	12	120568522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65961	120568522	13283373	13371	21083											
GCN1L1	10985	broad.mit.edu	37	chr12	120599349	120599349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaataagctttgttctctCgcttcatgttggcctttttt	8	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120599349C>T	ENST00000300648.6	-	22	2393	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	794					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGTTCTCTCGCTTCATGTT	0.527													False	0	True	12:120599349	0	T	120599349	C	T	120599349	3	4	88	1	0	0	0	0	1	0	0	0	6342	884	31	1	5782	1	GCN1L1	12	120599349	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30827	120599349	13252546	13372	21084											
GCN1L1	10985	broad.mit.edu	37	chr12	120602181	120602181	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcagctcctccaagagtcCgtgcgccagcttaaagcccc	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120602181C>A	ENST00000300648.6	-	18	1819	c.1807G>T	c.(1807-1809)Gga>Tga	p.G603*		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	603					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAAGAGTCCGTGCGCCAGC	0.607													False	0	False	12:120602181	0	A	120602181	C	A	120602181	4	1	88	1	0	0	0	0	0	1	0	0	6342	661	23	3	6372	3	GCN1L1	12	120602181	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2832	120602181	13249714	13373	21085											
PXN	5829	broad.mit.edu	37	chr12	120650126	120650126	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggcagggcacctagcagaaGagcttgaggaagcagttctg	16	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120650126G>A	ENST00000397506.3	-	9	2256	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	PXN_ENST00000536957.1_Silent_p.L587L|PXN_ENST00000267257.7_Silent_p.L603L|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000228307.7_Silent_p.L589L|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000424649.2_Silent_p.L555L|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000458477.2_Silent_p.L422L			P49023	PAXI_HUMAN	paxillin	589	LIM zinc-binding 1.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTAGCAGAAGAGCTTGAGGA	0.587													False	0	False	12:120650126	0	A	120650126	G	A	120650126	2	1	88	1	0	0	0	0	0	0	0	1	12931	929	33	2		2	PXN	12	120650126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47945	120650126	13201769	13374	21086											
PXN	5829	broad.mit.edu	37	chr12	120660699	120660699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgggttatgctgtacagCgttcagttccagcagcaggc	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120660699C>T	ENST00000536957.1	-	4	929	c.454G>A	c.(454-456)Gct>Act	p.A152T	PXN_ENST00000267257.7_Missense_Mutation_p.A154T|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000228307.7_Missense_Mutation_p.A154T|PXN_ENST00000424649.2_Missense_Mutation_p.A154T|PXN_ENST00000458477.2_Missense_Mutation_p.A21T			P49023	PAXI_HUMAN	paxillin	154					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCTGTACAGCGTTCAGTTCC	0.612													False	0	False	12:120660699	0	T	120660699	C	T	120660699	3	4	88	1	0	0	0	0	1	0	0	0	12931	768	27	1	1351	1	PXN	12	120660699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10573	120660699	13191196	13375	21087											
MSI1	4440	broad.mit.edu	37	chr12	120783401	120783401	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accgtcccctgcttcagtggTacccattggtgaaggctgtg	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120783401T>G	ENST00000257552.2	-	14	1170	c.1082A>C	c.(1081-1083)tAc>tCc	p.Y361S		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	361					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTCAGTGGTACCCATTGGT	0.572													False	0	False	12:120783401	0	G	120783401	T	G	120783401	3	3	88	1	0	0	0	0	1	0	0	0	9942	1638	57	4	10	4	MSI1	12	120783401	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	122702	120783401	13068494	13376	21088											
RNF10	9921	broad.mit.edu	37	chr12	120984244	120984244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatccaagcgttataatcGcaaacgtgaactttcctacc	7	11	0	1	rs111483466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120984244G>A	ENST00000325954.4	+	2	655	c.194G>A	c.(193-195)cGc>cAc	p.R65H	RNF10_ENST00000413266.2_Missense_Mutation_p.R65H	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	65	Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTTATAATCGCAAACGTGAA	0.418													False	0	False	12:120984244	0	A	120984244	G	A	120984244	3	1	88	1	0	0	0	0	1	0	0	0	13501	1087	38	1	200	1	RNF10	12	120984244	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200843	120984244	12867651	13377	21089											
ACADS	35	broad.mit.edu	37	chr12	121175748	121175748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgcctgggaggcttcggCtgccgtggtctttgccagca	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121175748C>T	ENST00000242592.4	+	5	732	c.581C>T	c.(580-582)gCt>gTt	p.A194V	ACADS_ENST00000411593.2_Intron	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	194						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GAGGCTTCGGCTGCCGTGGTC	0.617													False	0	False	12:121175748	0	T	121175748	C	T	121175748	3	4	88	1	0	0	0	0	1	0	0	0	114	797	28	2	599	2	ACADS	12	121175748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191504	121175748	12676147	13378	21090											
SPPL3	121665	broad.mit.edu	37	chr12	121202852	121202852	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggagtggaaaggctcagAccacatccgccggaggtcgc	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121202852A>C	ENST00000353487.2	-	11	1608	c.1105T>G	c.(1105-1107)Tct>Gct	p.S369A		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	370						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAAGGCTCAGACCACATCCGC	0.468													False	0	False	12:121202852	0	C	121202852	A	C	121202852	3	2	88	1	0	0	0	0	1	0	0	0	15172	275	10	4	53	4	SPPL3	12	121202852	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27104	121202852	12649043	13379	21091											
HNF1A	6927	broad.mit.edu	37	chr12	121437184	121437184	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctggccagcctcacgcccAccaagcaggtaaggtccagg	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121437184A>G	ENST00000257555.6	+	8	1841	c.1615A>G	c.(1615-1617)Acc>Gcc	p.T539A	HNF1A_ENST00000544413.1_Missense_Mutation_p.T539A|HNF1A_ENST00000541395.1_Missense_Mutation_p.T539A			P20823	HNF1A_HUMAN	HNF1 homeobox A	539					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTCACGCCCACCAAGCAGGT	0.682									Hepatic Adenoma, Familial Clustering of				False	0	True	12:121437184	0	G	121437184	A	G	121437184	3	3	88	1	0	0	0	0	1	0	0	0	7298	159	6	4	1645	4	HNF1A	12	121437184	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	234332	121437184	12414711	13380	21092											
C12orf43	64897	broad.mit.edu	37	chr12	121442209	121442209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctccactgttccagggCtgtggatggctgactcctgt	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121442209C>T	ENST00000445832.3	-	6	548	c.446G>A	c.(445-447)aGc>aAc	p.S149N	C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000539736.1_Missense_Mutation_p.S169N|C12orf43_ENST00000537817.1_Missense_Mutation_p.S180N|C12orf43_ENST00000366211.2_Missense_Mutation_p.S138N|C12orf43_ENST00000288757.3_Missense_Mutation_p.S179N			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	179	Poly-Ser.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTTCCAGGGCTGTGGATGGC	0.602													False	0	True	12:121442209	0	T	121442209	C	T	121442209	3	4	88	1	0	0	0	0	1	0	0	0	1698	797	28	2	256	2	C12orf43	12	121442209	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5025	121442209	12409686	13381	21093											
OASL	8638	broad.mit.edu	37	chr12	121458478	121458478	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggacttggccttggaaTtccagctgctgctgcttttt	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121458478T>G	ENST00000257570.5	-	6	1701	c.1431A>C	c.(1429-1431)gaA>gaC	p.E477D	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	477	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCCTTGGAATTCCAGCTGCT	0.537													False	0	False	12:121458478	0	G	121458478	T	G	121458478	3	3	88	1	0	0	0	0	1	0	0	0	10870	1490	52	4	117	4	OASL	12	121458478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16269	121458478	12393417	13382	21094											
ANAPC5	51433	broad.mit.edu	37	chr12	121746318	121746318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagggtaccccatgagaggGcagctcctgatgcagctgcc	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121746318G>A	ENST00000261819.3	-	17	2354	c.2233C>T	c.(2233-2235)Ccc>Tcc	p.P745S	ANAPC5_ENST00000344395.4_Missense_Mutation_p.P633S|ANAPC5_ENST00000535482.1_Missense_Mutation_p.P411S|ANAPC5_ENST00000541887.1_Missense_Mutation_p.P732S|ANAPC5_ENST00000441917.2_Missense_Mutation_p.P633S|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	745					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCATGAGAGGGCAGCTCCTGA	0.552													False	0	True	12:121746318	0	A	121746318	G	A	121746318	3	1	88	1	0	0	0	0	1	0	0	0	605	1203	42	2	38	2	ANAPC5	12	121746318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287840	121746318	12105577	13383	21095											
ANAPC5	51433	broad.mit.edu	37	chr12	121757499	121757499	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagttttcaaggtttcttaCctataaacaccctctatgct	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121757499C>A	ENST00000261819.3	-	13	1759		c.e13+1		ANAPC5_ENST00000344395.4_Splice_Site|ANAPC5_ENST00000535482.1_Splice_Site|ANAPC5_ENST00000541887.1_Splice_Site|ANAPC5_ENST00000441917.2_Splice_Site|ANAPC5_ENST00000544314.1_Splice_Site	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGTTTCTTACCTATAAACAC	0.303													False	0	False	12:121757499	0	A	121757499	C	A	121757499	5	1	88	1	0	0	0	0	0	0	1	0	605	521	18	3	649	3	ANAPC5	12	121757499	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11181	121757499	12094396	13384	21096											
ANAPC5	51433	broad.mit.edu	37	chr12	121758243	121758243	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaagtgctttaacacttcaGaagctgcagcaaaacagccc	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121758243G>T	ENST00000261819.3	-	12	1581	c.1460C>A	c.(1459-1461)tCt>tAt	p.S487Y	ANAPC5_ENST00000344395.4_Missense_Mutation_p.S375Y|ANAPC5_ENST00000535482.1_Missense_Mutation_p.S153Y|ANAPC5_ENST00000541887.1_Missense_Mutation_p.S474Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.S375Y|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	487					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TAACACTTCAGAAGCTGCAGC	0.418													False	0	False	12:121758243	0	T	121758243	G	T	121758243	3	4	88	1	0	0	0	0	1	0	0	0	605	942	33	3	831	3	ANAPC5	12	121758243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	744	121758243	12093652	13385	21097											
ANAPC5	51433	broad.mit.edu	37	chr12	121783678	121783678	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttcttctttttccatttttCtttcaccctcatctctactg	2	13	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121783678C>A	ENST00000261819.3	-	4	675	c.554G>T	c.(553-555)aGa>aTa	p.R185I	ANAPC5_ENST00000344395.4_Missense_Mutation_p.R86I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.R64I|ANAPC5_ENST00000541887.1_Missense_Mutation_p.R185I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R86I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	185					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCCATTTTTCTTTCACCCTC	0.383													False	0	True	12:121783678	0	A	121783678	C	A	121783678	3	1	88	1	0	0	0	0	1	0	0	0	605	913	32	3	1769	3	ANAPC5	12	121783678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25435	121783678	12068217	13386	21098											
KDM2B	84678	broad.mit.edu	37	chr12	121878882	121878882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggctcaccaggcagccGgttgatgagccagctcagct	13	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121878882G>A	ENST00000377069.4	-	19	3638	c.3232C>T	c.(3232-3234)Cgg>Tgg	p.R1078W	KDM2B_ENST00000377071.4_Missense_Mutation_p.R1147W|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R515W	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1147	F-box.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCAGGCAGCCGGTTGATGAGC	0.622													False	0	False	12:121878882	0	A	121878882	G	A	121878882	3	1	88	1	0	0	0	0	1	0	0	0	8175	1115	39	1	639	1	KDM2B	12	121878882	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95204	121878882	11973013	13387	21099											
KDM2B	84678	broad.mit.edu	37	chr12	121880000	121880000	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacccgcatgcacacacacaGgtcttggtggctgaggtagc	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880000G>T	ENST00000377069.4	-	18	3443	c.3037C>A	c.(3037-3039)Ctg>Atg	p.L1013M	KDM2B_ENST00000377071.4_Missense_Mutation_p.L1082M|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.L450M	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1082					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CACACACACAGGTCTTGGTGG	0.662													False	0	True	12:121880000	0	T	121880000	G	T	121880000	3	4	88	1	0	0	0	0	1	0	0	0	8175	991	35	3	838	3	KDM2B	12	121880000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1118	121880000	11971895	13388	21100											
KDM2B	84678	broad.mit.edu	37	chr12	121880187	121880187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgggagatgacacggggCgggctgcgcaggctgggccc	21	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880187C>T	ENST00000377069.4	-	18	3256	c.2850G>A	c.(2848-2850)ccG>ccA	p.P950P	KDM2B_ENST00000377071.4_Silent_p.P1019P|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.P387P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1019					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGACACGGGGCGGGCTGCGCA	0.741													False	0	True	12:121880187	0	T	121880187	C	T	121880187	2	4	88	1	0	0	0	0	0	0	0	1	8175	755	27	1		1	KDM2B	12	121880187	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187	121880187	11971708	13389	21101											
KDM2B	84678	broad.mit.edu	37	chr12	121880308	121880308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgggctcctcgccctcgCtctcaggctccgacttgatg	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880308C>T	ENST00000377069.4	-	18	3135	c.2729G>A	c.(2728-2730)aGc>aAc	p.S910N	KDM2B_ENST00000377071.4_Missense_Mutation_p.S979N|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.S347N	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	979					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCGCCCTCGCTCTCAGGCTC	0.677													False	0	False	12:121880308	0	T	121880308	C	T	121880308	3	4	88	1	0	0	0	0	1	0	0	0	8175	797	28	2	1146	2	KDM2B	12	121880308	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121	121880308	11971587	13390	21102											
KDM2B	84678	broad.mit.edu	37	chr12	121881856	121881856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggcttctcgtatttccGcttcttcctcaggtgcacgt	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121881856G>A	ENST00000377069.4	-	16	2723	c.2317C>T	c.(2317-2319)Cgg>Tgg	p.R773W	KDM2B_ENST00000377071.4_Missense_Mutation_p.R804W|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R172W	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	804					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGTATTTCCGCTTCTTCCTC	0.657											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:121881856	0	A	121881856	G	A	121881856	3	1	88	1	0	0	0	0	1	0	0	0	8175	1086	38	1	1684	1	KDM2B	12	121881856	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1548	121881856	11970039	13391	21103											
KDM2B	84678	broad.mit.edu	37	chr12	121891035	121891035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtccgcaggcaggcctcgCacttgcggcatcgcgtccgg	15	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121891035C>T	ENST00000377069.4	-	13	2160	c.1754G>A	c.(1753-1755)tGc>tAc	p.C585Y	KDM2B_ENST00000377071.4_Missense_Mutation_p.C616Y|KDM2B_ENST00000536437.1_Missense_Mutation_p.C499Y|KDM2B_ENST00000542973.1_5'UTR	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	616					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCAGGCCTCGCACTTGCGGCA	0.697													False	0	False	12:121891035	0	T	121891035	C	T	121891035	3	4	88	1	0	0	0	0	1	0	0	0	8175	710	25	2	2259	2	KDM2B	12	121891035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9179	121891035	11960860	13392	21104											
MORN3	283385	broad.mit.edu	37	chr12	122097217	122097217	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacttccagtccccctcataGatggctcctttcttcttcca	4	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122097217G>A	ENST00000355329.3	-	2	353	c.183C>T	c.(181-183)atC>atT	p.I61I		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	61										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCCCCTCATAGATGGCTCCTT	0.587													False	0	False	12:122097217	0	A	122097217	G	A	122097217	2	1	88	1	0	0	0	0	0	0	0	1	9776	932	33	2		2	MORN3	12	122097217	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206182	122097217	11754678	13393	21105											
MORN3	283385	broad.mit.edu	37	chr12	122107269	122107269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcacgttgtccttccactCgcccacatagtagtcgccat	6	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122107269C>T	ENST00000355329.3	-	1	291	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	41										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TCCTTCCACTCGCCCACATAG	0.627											OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:122107269	0	T	122107269	C	T	122107269	3	4	88	1	0	0	0	0	1	0	0	0	9776	893	31	1	621	1	MORN3	12	122107269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10052	122107269	11744626	13394	21106											
RHOF	54509	broad.mit.edu	37	chr12	122219028	122219028	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctggtgggattcatgacGtcatagcagatgagcacgag	14	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122219028G>A	ENST00000537265.1	-	0	279				TMEM120B_ENST00000538055.1_3'UTR|TMEM120B_ENST00000449592.2_3'UTR|RHOF_ENST00000537171.1_Silent_p.D99D|RHOF_ENST00000267205.2_Silent_p.D99D			Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)						actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GATTCATGACGTCATAGCAGA	0.642													False	0	False	12:122219028	0	A	122219028	G	A	122219028	1	1	88	1	0	0	0	0	0	0	0	0	13417	1136	40	1		1	RHOF	12	122219028	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111759	122219028	11632867	13395	21107											
HPD	3242	broad.mit.edu	37	chr12	122281734	122281734	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctctctctctcaagtggCgaatctgtttcagagcaaag	10	11	5	1	rs140144597	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122281734C>T	ENST00000543163.1	-	13	1164	c.719G>A	c.(718-720)cGc>cAc	p.R240H	HPD_ENST00000289004.4_Missense_Mutation_p.R279H	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	279					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCTCAAGTGGCGAATCTGTTT	0.537													False	0	False	12:122281734	0	T	122281734	C	T	122281734	3	4	88	1	0	0	0	0	1	0	0	0	7379	768	27	1	357	1	HPD	12	122281734	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62706	122281734	11570161	13396	21108											
HPD	3242	broad.mit.edu	37	chr12	122295256	122295256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttgtttgattacatggCtgaccacctcccgggaaccg	9	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122295256C>T	ENST00000543163.1	-	5	504	c.59G>A	c.(58-60)aGc>aAc	p.S20N	HPD_ENST00000289004.4_Missense_Mutation_p.S59N	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	59					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GATTACATGGCTGACCACCTC	0.547													False	0	False	12:122295256	0	T	122295256	C	T	122295256	3	4	88	1	0	0	0	0	1	0	0	0	7379	797	28	2	1049	2	HPD	12	122295256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13522	122295256	11556639	13397	21109											
PSMD9	5715	broad.mit.edu	37	chr12	122337749	122337749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctccccagccagcatcGcggtaatccaggggttggcc	13	16	0	0	rs139208583		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122337749G>A	ENST00000541212.1	+	3	577	c.451G>A	c.(451-453)Gcg>Acg	p.A151T	PSMD9_ENST00000542602.1_Intron|PSMD9_ENST00000340175.5_Missense_Mutation_p.A151T|PSMD9_ENST00000261817.2_Missense_Mutation_p.A151T|RP11-87C12.2_ENST00000546333.1_Intron			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	151	PDZ.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AGCCAGCATCGCGGTAATCCA	0.622													False	0	False	12:122337749	0	A	122337749	G	A	122337749	3	1	88	1	0	0	0	0	1	0	0	0	12781	1087	38	1	461	1	PSMD9	12	122337749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42493	122337749	11514146	13398	21110											
WDR66	144406	broad.mit.edu	37	chr12	122380800	122380800	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctctctactgtcacctacaGaaggtatgcatctggaagtg	9	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122380800G>T	ENST00000288912.4	+	7	1964		c.e7-1		WDR66_ENST00000397454.2_Splice_Site	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66								calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GTCACCTACAGAAGGTATGCA	0.498													False	0	False	12:122380800	0	T	122380800	G	T	122380800	5	4	88	1	0	0	0	0	0	0	1	0	17401	956	33	3	1132	3	WDR66	12	122380800	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43051	122380800	11471095	13399	21111											
BCL7A	605	broad.mit.edu	37	chr12	122497016	122497016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatttggaaggagtgccaCcctctaaaaagatgaaactg	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122497016C>T	ENST00000538010.1	+	6	3313	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	BCL7A_ENST00000261822.4_Missense_Mutation_p.P194S	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	194					negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AGGAGTGCCACCCTCTAAAAA	0.512			T	MYC	BNHL								False	0	True	12:122497016	0	T	122497016	C	T	122497016	3	4	88	1	0	0	0	0	1	0	0	0	1382	507	18	2	665	2	BCL7A	12	122497016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116216	122497016	11354879	13400	21112											
MLXIP	22877	broad.mit.edu	37	chr12	122618405	122618405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccggcctccccagccaCggttaacttttgtgcacccc	7	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122618405C>T	ENST00000319080.7	+	9	1735	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	MLXIP_ENST00000538698.1_Missense_Mutation_p.R142W|MLXIP_ENST00000377037.2_Missense_Mutation_p.R125W			Q9HAP2	MLXIP_HUMAN	MLX interacting protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TCCCCAGCCACGGTTAACTTT	0.612													False	0	False	12:122618405	0	T	122618405	C	T	122618405	3	4	88	1	0	0	0	0	1	0	0	0	9703	527	19	1	1637	1	MLXIP	12	122618405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121389	122618405	11233490	13401	21113											
MLXIP	22877	broad.mit.edu	37	chr12	122620057	122620057	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggggtcccggagttcCacagcagcatcctggtgaca	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620057C>A	ENST00000319080.7	+	11	2008	c.1876C>A	c.(1876-1878)Cac>Aac	p.H626N	MLXIP_ENST00000538698.1_Missense_Mutation_p.H233N|MLXIP_ENST00000535996.1_3'UTR			Q9HAP2	MLXIP_HUMAN	MLX interacting protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCGGAGTTCCACAGCAGCAT	0.652													False	0	False	12:122620057	0	A	122620057	C	A	122620057	3	1	88	1	0	0	0	0	1	0	0	0	9703	594	21	3	1918	3	MLXIP	12	122620057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1652	122620057	11231838	13402	21114											
MLXIP	22877	broad.mit.edu	37	chr12	122620104	122620104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatggcacgagcagcccGcctgcccccgtctcccggct	12	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620104G>A	ENST00000319080.7	+	11	2055	c.1923G>A	c.(1921-1923)ccG>ccA	p.P641P	MLXIP_ENST00000538698.1_Silent_p.P248P			Q9HAP2	MLXIP_HUMAN	MLX interacting protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CGAGCAGCCCGCCTGCCCCCG	0.677													False	0	True	12:122620104	0	A	122620104	G	A	122620104	2	1	88	1	0	0	0	0	0	0	0	1	9703	1074	38	1		1	MLXIP	12	122620104	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	122620104	11231791	13403	21115											
MLXIP	22877	broad.mit.edu	37	chr12	122622746	122622746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttctccagcagaaccgGcagatgaagcacatctcagc	11	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122622746G>A	ENST00000319080.7	+	13	2292	c.2160G>A	c.(2158-2160)cgG>cgA	p.R720R	MLXIP_ENST00000538698.1_Silent_p.R327R			Q9HAP2	MLXIP_HUMAN	MLX interacting protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AGCAGAACCGGCAGATGAAGC	0.552													False	0	False	12:122622746	0	A	122622746	G	A	122622746	2	1	88	1	0	0	0	0	0	0	0	1	9703	1190	42	2		2	MLXIP	12	122622746	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2642	122622746	11229149	13404	21116											
LRRC43	254050	broad.mit.edu	37	chr12	122669187	122669187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggcctggtccgcagccGccactccccctgggctctgc	13	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122669187G>A	ENST00000339777.4	+	2	300	c.272G>A	c.(271-273)cGc>cAc	p.R91H	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	91								p.R91H(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GTCCGCAGCCGCCACTCCCCC	0.607													False	0	False	12:122669187	0	A	122669187	G	A	122669187	3	1	88	1	0	0	0	0	1	0	0	0	9063	1087	38	1	278	1	LRRC43	12	122669187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46441	122669187	11182708	13405	21117											
LRRC43	254050	broad.mit.edu	37	chr12	122677357	122677357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaagaggtcgtggaagaCgtcatcgaagacattgttga	13	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122677357C>T	ENST00000339777.4	+	7	1183	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	LRRC43_ENST00000425921.1_Silent_p.D200D	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	385	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCGTGGAAGACGTCATCGAAG	0.517													False	0	False	12:122677357	0	T	122677357	C	T	122677357	2	4	88	1	0	0	0	0	0	0	0	1	9063	535	19	1		1	LRRC43	12	122677357	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8170	122677357	11174538	13406	21118											
B3GNT4	79369	broad.mit.edu	37	chr12	122691403	122691403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggagctgcacctgcagcGctgggtggtggctgcctgcc	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122691403G>A	ENST00000535274.1	+	1	2257	c.530G>A	c.(529-531)cGc>cAc	p.R177H	B3GNT4_ENST00000546192.1_Missense_Mutation_p.R177H|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Missense_Mutation_p.R202H			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	202					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CACCTGCAGCGCTGGGTGGTG	0.567													False	0	False	12:122691403	0	A	122691403	G	A	122691403	3	1	88	1	0	0	0	0	1	0	0	0	1263	1087	38	1	611	1	B3GNT4	12	122691403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14046	122691403	11160492	13407	21119											
CLIP1	6249	broad.mit.edu	37	chr12	122825825	122825825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccctttgctgaaagatacCttcagttcttccatcgcctg	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122825825C>T	ENST00000358808.2	-	10	2047	c.1893G>A	c.(1891-1893)aaG>aaA	p.K631K	CLIP1_ENST00000540338.1_Silent_p.K642K|CLIP1_ENST00000302528.7_Silent_p.K631K|CLIP1_ENST00000361654.4_Silent_p.K596K|CLIP1_ENST00000545889.1_Silent_p.K332K|CLIP1_ENST00000537178.1_Silent_p.K596K	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	642					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGAAAGATACCTTCAGTTCTT	0.438													False	0	False	12:122825825	0	T	122825825	C	T	122825825	2	4	88	1	0	0	0	0	0	0	0	1	3555	680	24	2		2	CLIP1	12	122825825	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134422	122825825	11026070	13408	21120											
CLIP1	6249	broad.mit.edu	37	chr12	122826040	122826040	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgctccttcagagaagTtatttctctctggtggtcag	9	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122826040T>G	ENST00000358808.2	-	10	1832	c.1678A>C	c.(1678-1680)Act>Cct	p.T560P	CLIP1_ENST00000540338.1_Missense_Mutation_p.T571P|CLIP1_ENST00000302528.7_Missense_Mutation_p.T560P|CLIP1_ENST00000361654.4_Missense_Mutation_p.T525P|CLIP1_ENST00000545889.1_Missense_Mutation_p.T261P|CLIP1_ENST00000537178.1_Missense_Mutation_p.T525P	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	571					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCAGAGAAGTTATTTCTCTC	0.468													False	0	False	12:122826040	0	G	122826040	T	G	122826040	3	3	88	1	0	0	0	0	1	0	0	0	3555	1725	60	4	2669	4	CLIP1	12	122826040	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	215	122826040	11025855	13409	21121											
CLIP1	6249	broad.mit.edu	37	chr12	122848584	122848584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctcatctaactccacgCcacaccactcccccttggca	6	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122848584C>T	ENST00000358808.2	-	4	882	c.728G>A	c.(727-729)gGc>gAc	p.G243D	CLIP1_ENST00000540338.1_Missense_Mutation_p.G243D|CLIP1_ENST00000302528.7_Missense_Mutation_p.G243D|CLIP1_ENST00000361654.4_Missense_Mutation_p.G243D|CLIP1_ENST00000537178.1_Missense_Mutation_p.G243D	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	243	CAP-Gly 2.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TAACTCCACGCCACACCACTC	0.502													False	0	False	12:122848584	0	T	122848584	C	T	122848584	3	4	88	1	0	0	0	0	1	0	0	0	3555	739	26	2	3643	2	CLIP1	12	122848584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22544	122848584	11003311	13410	21122											
CLIP1	6249	broad.mit.edu	37	chr12	122862247	122862247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtcgggtaaatatgcCctttaaaggttcacactgga	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122862247C>T	ENST00000358808.2	-	3	500	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	CLIP1_ENST00000540338.1_Missense_Mutation_p.G116S|CLIP1_ENST00000302528.7_Missense_Mutation_p.G116S|CLIP1_ENST00000361654.4_Missense_Mutation_p.G116S|CLIP1_ENST00000537178.1_Missense_Mutation_p.G116S	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	116	CAP-Gly 1.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTAAATATGCCCTTTAAAGGT	0.507													False	0	True	12:122862247	0	T	122862247	C	T	122862247	3	4	88	1	0	0	0	0	1	0	0	0	3555	623	22	2	4029	2	CLIP1	12	122862247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13663	122862247	10989648	13411	21123											
ZCCHC8	55596	broad.mit.edu	37	chr12	122958687	122958687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagtcactgggagtcagcGgcggggtgccctttgggagt	19	8	2	1	rs111823200		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122958687G>A	ENST00000543897.1	-	12	3122	c.767C>T	c.(766-768)cCg>cTg	p.P256L	ZCCHC8_ENST00000538116.1_Missense_Mutation_p.P105L|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.P256L|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.P494L			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	494						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GGGAGTCAGCGGCGGGGTGCC	0.577													False	0	False	12:122958687	0	A	122958687	G	A	122958687	3	1	88	1	0	0	0	0	1	0	0	0	17677	1116	39	1	646	1	ZCCHC8	12	122958687	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96440	122958687	10893208	13412	21124											
ZCCHC8	55596	broad.mit.edu	37	chr12	122958719	122958719	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttgggagtggaggggtgaaGacgggtggaggagttccccg	21	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122958719G>A	ENST00000543897.1	-	12	3090	c.735C>T	c.(733-735)gtC>gtT	p.V245V	ZCCHC8_ENST00000538116.1_Silent_p.V94V|ZCCHC8_ENST00000536306.1_Silent_p.V245V|ZCCHC8_ENST00000336229.4_Silent_p.V483V			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	483						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GAGGGGTGAAGACGGGTGGAG	0.587													False	0	False	12:122958719	0	A	122958719	G	A	122958719	2	1	88	1	0	0	0	0	0	0	0	1	17677	929	33	2		2	ZCCHC8	12	122958719	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32	122958719	10893176	13413	21125											
ZCCHC8	55596	broad.mit.edu	37	chr12	122962754	122962754	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccttaaaatctatttaccGcttggaagttagaagtaagg	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122962754G>A	ENST00000543897.1	-	10	2867	c.512C>T	c.(511-513)gCg>gTg	p.A171V	ZCCHC8_ENST00000538116.1_Splice_Site_p.A20V|ZCCHC8_ENST00000536306.1_Splice_Site_p.A171V|ZCCHC8_ENST00000336229.4_Splice_Site_p.A409V			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	409						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TCTATTTACCGCTTGGAAGTT	0.378													False	0	False	12:122962754	0	A	122962754	G	A	122962754	5	1	88	1	0	0	0	0	0	0	1	0	17677	1101	38	1	909	1	ZCCHC8	12	122962754	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4035	122962754	10889141	13414	21126											
KNTC1	9735	broad.mit.edu	37	chr12	123026646	123026646	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggatttttttgtattacAaaccttcagcttttaaaaat	5	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123026646A>G	ENST00000333479.7	+	6	672	c.495A>G	c.(493-495)acA>acG	p.T165T	KNTC1_ENST00000450485.2_Silent_p.T165T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	165					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTGTATTACAAACCTTCAGC	0.239													False	0	True	12:123026646	0	G	123026646	A	G	123026646	2	3	88	1	0	0	0	0	0	0	0	1	8478	117	5	4		4	KNTC1	12	123026646	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63892	123026646	10825249	13415	21127											
KNTC1	9735	broad.mit.edu	37	chr12	123072361	123072361	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaagatttgtggttggttcAtttggtacctgtcttcagca	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123072361A>G	ENST00000333479.7	+	39	4011	c.3834A>G	c.(3832-3834)tcA>tcG	p.S1278S	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1278					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGGTTGGTTCATTTGGTACCT	0.418													False	0	True	12:123072361	0	G	123072361	A	G	123072361	2	3	88	1	0	0	0	0	0	0	0	1	8478	204	8	4		4	KNTC1	12	123072361	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45715	123072361	10779534	13416	21128											
KNTC1	9735	broad.mit.edu	37	chr12	123082326	123082326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagctcttcattgaaacGctgctccacaacacaaatgc	5	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123082326G>A	ENST00000333479.7	+	44	4581	c.4404G>A	c.(4402-4404)acG>acA	p.T1468T	KNTC1_ENST00000545065.1_3'UTR|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1468					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCATTGAAACGCTGCTCCACA	0.512													False	0	False	12:123082326	0	A	123082326	G	A	123082326	2	1	88	1	0	0	0	0	0	0	0	1	8478	1074	38	1		1	KNTC1	12	123082326	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9965	123082326	10769569	13417	21129											
CCDC62	84660	broad.mit.edu	37	chr12	123265728	123265728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggtgaactacataaaagaActgaaataatcaggtcactc	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123265728A>G	ENST00000253079.6	+	3	591	c.247A>G	c.(247-249)Act>Gct	p.T83A	CCDC62_ENST00000392441.4_Missense_Mutation_p.T83A|CCDC62_ENST00000537566.1_5'UTR	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	83						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACATAAAAGAACTGAAATAAT	0.373													False	0	False	12:123265728	0	G	123265728	A	G	123265728	3	3	88	1	0	0	0	0	1	0	0	0	2854	43	2	4	257	4	CCDC62	12	123265728	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	183402	123265728	10586167	13418	21130											
CCDC62	84660	broad.mit.edu	37	chr12	123297931	123297931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgagcacactgctgcccAtcagccatgagaatctcact	8	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123297931A>G	ENST00000253079.6	+	11	2310	c.1966A>G	c.(1966-1968)Atc>Gtc	p.I656V	CCDC62_ENST00000392441.4_Missense_Mutation_p.I656V|CCDC62_ENST00000392440.2_Missense_Mutation_p.I417V|CCDC62_ENST00000537566.1_Missense_Mutation_p.I417V	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	656						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACTGCTGCCCATCAGCCATGA	0.517													False	0	True	12:123297931	0	G	123297931	A	G	123297931	3	3	88	1	0	0	0	0	1	0	0	0	2854	217	8	4	2008	4	CCDC62	12	123297931	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32203	123297931	10553964	13419	21131											
HIP1R	9026	broad.mit.edu	37	chr12	123339642	123339642	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctccgacatgctgtacttCaagcggctcatccagatccc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123339642C>T	ENST00000253083.4	+	10	944	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	273					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGCTGTACTTCAAGCGGCTCA	0.662													False	0	False	12:123339642	0	T	123339642	C	T	123339642	2	4	88	1	0	0	0	0	0	0	0	1	7162	825	29	2		2	HIP1R	12	123339642	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41711	123339642	10512253	13420	21132											
VPS37B	79720	broad.mit.edu	37	chr12	123351959	123351959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggcagggtagggaagggGggcggtaggtgccagttcgg	24	5	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123351959G>A	ENST00000267202.2	-	4	943	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	188	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TAGGGAAGGGGGGCGGTAGGT	0.701													False	0	True	12:123351959	0	A	123351959	G	A	123351959	3	1	88	1	0	0	0	0	1	0	0	0	17290	1232	43	2	299	2	VPS37B	12	123351959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12317	123351959	10499936	13421	21133											
VPS37B	79720	broad.mit.edu	37	chr12	123352062	123352062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcttctcgattttcacCcgtcgcatgtgggccagttt	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123352062C>T	ENST00000267202.2	-	4	840	c.459G>A	c.(457-459)cgG>cgA	p.R153R		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	153	Interaction with IST1.|VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGATTTTCACCCGTCGCATGT	0.562													False	0	True	12:123352062	0	T	123352062	C	T	123352062	2	4	88	1	0	0	0	0	0	0	0	1	17290	610	22	2		2	VPS37B	12	123352062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103	123352062	10499833	13422	21134											
OGFOD2	79676	broad.mit.edu	37	chr12	123463318	123463318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgctgctgcacgagctcGggctggacgagccgctgatg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463318G>A	ENST00000397389.2	+	7	1109	c.370G>A	c.(370-372)Ggg>Agg	p.G124R	OGFOD2_ENST00000538755.1_Missense_Mutation_p.G20R|ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000228922.7_Missense_Mutation_p.G184R|OGFOD2_ENST00000545317.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000454694.2_Missense_Mutation_p.G20R|OGFOD2_ENST00000545612.1_Missense_Mutation_p.G20R|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538628.1_Missense_Mutation_p.G20R|OGFOD2_ENST00000536150.1_Missense_Mutation_p.G20R	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	184							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GCACGAGCTCGGGCTGGACGA	0.662													False	0	True	12:123463318	0	A	123463318	G	A	123463318	3	1	88	1	0	0	0	0	1	0	0	0	10910	1116	39	1	388	1	OGFOD2	12	123463318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111256	123463318	10388577	13423	21135											
OGFOD2	79676	broad.mit.edu	37	chr12	123463381	123463381	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccgctgatggccctgCtgtaccctgactgtggcggg	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463381C>A	ENST00000397389.2	+	7	1172	c.433C>A	c.(433-435)Ctg>Atg	p.L145M	OGFOD2_ENST00000538755.1_Missense_Mutation_p.L41M|ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000228922.7_Missense_Mutation_p.L205M|OGFOD2_ENST00000545317.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000454694.2_Missense_Mutation_p.L41M|OGFOD2_ENST00000545612.1_Missense_Mutation_p.L41M|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538628.1_Missense_Mutation_p.L41M|OGFOD2_ENST00000536150.1_Missense_Mutation_p.L41M	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	205							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GATGGCCCTGCTGTACCCTGA	0.667													False	0	False	12:123463381	0	A	123463381	C	A	123463381	3	1	88	1	0	0	0	0	1	0	0	0	10910	796	28	3	451	3	OGFOD2	12	123463381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	123463381	10388514	13424	21136											
OGFOD2	79676	broad.mit.edu	37	chr12	123463481	123463481	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgggctgccactatgataAtgccgagctcaccctcaatg	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463481A>C	ENST00000397389.2	+	7	1272	c.533A>C	c.(532-534)aAt>aCt	p.N178T	OGFOD2_ENST00000538755.1_Missense_Mutation_p.N74T|ABCB9_ENST00000542678.1_5'UTR|OGFOD2_ENST00000228922.7_Missense_Mutation_p.N238T|OGFOD2_ENST00000545317.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000454694.2_Missense_Mutation_p.N74T|OGFOD2_ENST00000545612.1_Missense_Mutation_p.N74T|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538628.1_Missense_Mutation_p.N74T|OGFOD2_ENST00000536150.1_Missense_Mutation_p.N74T	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	238							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CACTATGATAATGCCGAGCTC	0.632													False	0	False	12:123463481	0	C	123463481	A	C	123463481	3	2	88	1	0	0	0	0	1	0	0	0	10910	101	4	4	551	4	OGFOD2	12	123463481	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	100	123463481	10388414	13425	21137											
PITPNM2	57605	broad.mit.edu	37	chr12	123481078	123481078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggttactgtagcacaggGcatcaaatgccaggatgccc	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123481078G>A	ENST00000280562.5	-	12	1914	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V	PITPNM2_ENST00000392428.1_Missense_Mutation_p.A291V|PITPNM2_ENST00000320201.4_Missense_Mutation_p.A570V|PITPNM2_ENST00000542749.1_Missense_Mutation_p.A570V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	570					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTAGCACAGGGCATCAAATGC	0.637													False	0	True	12:123481078	0	A	123481078	G	A	123481078	3	1	88	1	0	0	0	0	1	0	0	0	12020	1203	42	2	2396	2	PITPNM2	12	123481078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17597	123481078	10370817	13426	21138											
PITPNM2	57605	broad.mit.edu	37	chr12	123481101	123481101	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaaatgccaggatgcccccGacgcagtccccaatcaggca	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123481101G>A	ENST00000280562.5	-	12	1891	c.1686C>T	c.(1684-1686)gtC>gtT	p.V562V	PITPNM2_ENST00000392428.1_Silent_p.V283V|PITPNM2_ENST00000320201.4_Silent_p.V562V|PITPNM2_ENST00000542749.1_Silent_p.V562V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	562					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGATGCCCCCGACGCAGTCCC	0.642													False	0	True	12:123481101	0	A	123481101	G	A	123481101	2	1	88	1	0	0	0	0	0	0	0	1	12020	1045	37	1		1	PITPNM2	12	123481101	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	123481101	10370794	13427	21139											
PITPNM2	57605	broad.mit.edu	37	chr12	123485384	123485384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcaggggcaccctggcGgtacagaccatctgcaaaga	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123485384G>A	ENST00000280562.5	-	9	1370	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	PITPNM2_ENST00000392428.1_Missense_Mutation_p.R110C|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R427C|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R389C|PITPNM2_ENST00000542749.1_Missense_Mutation_p.R389C|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	389					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCACCCTGGCGGTACAGACCA	0.637													False	0	False	12:123485384	0	A	123485384	G	A	123485384	3	1	88	1	0	0	0	0	1	0	0	0	12020	1116	39	1	2952	1	PITPNM2	12	123485384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4283	123485384	10366511	13428	21140											
PITPNM2	57605	broad.mit.edu	37	chr12	123494407	123494407	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgctcaccggtgtcgtgGatgaacctctcgatcttgga	13	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123494407G>A	ENST00000280562.5	-	5	838	c.633C>T	c.(631-633)atC>atT	p.I211I	PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000546049.1_Silent_p.I211I|PITPNM2_ENST00000320201.4_Silent_p.I211I|PITPNM2_ENST00000542749.1_Silent_p.I211I|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	211					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGGTGTCGTGGATGAACCTCT	0.582													False	0	False	12:123494407	0	A	123494407	G	A	123494407	2	1	88	1	0	0	0	0	0	0	0	1	12020	1164	41	2		2	PITPNM2	12	123494407	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9023	123494407	10357488	13429	21141											
PITPNM2	57605	broad.mit.edu	37	chr12	123498455	123498455	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggatggagcggaaccaGctgggaatgtgcatgcccac	16	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123498455G>T	ENST00000280562.5	-	3	418	c.213C>A	c.(211-213)agC>agA	p.S71R	PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000546049.1_Missense_Mutation_p.S71R|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S71R|PITPNM2_ENST00000542749.1_Missense_Mutation_p.S71R|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	71					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGCGGAACCAGCTGGGAATGT	0.632													False	0	False	12:123498455	0	T	123498455	G	T	123498455	3	4	88	1	0	0	0	0	1	0	0	0	12020	962	34	3	3928	3	PITPNM2	12	123498455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4048	123498455	10353440	13430	21142											
SBNO1	55206	broad.mit.edu	37	chr12	123794273	123794273	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacctaagattcccatatcAtatcttccattttttttggc	3	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123794273A>G	ENST00000420886.2	-	25	3425	c.3426T>C	c.(3424-3426)taT>taC	p.Y1142Y	SBNO1_ENST00000602750.1_Silent_p.Y1141Y|SBNO1_ENST00000602398.1_Silent_p.Y1142Y|SBNO1_ENST00000267176.4_Silent_p.Y1141Y	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1142							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTCCCATATCATATCTTCCAT	0.398													False	0	True	12:123794273	0	G	123794273	A	G	123794273	2	3	88	1	0	0	0	0	0	0	0	1	13942	224	8	4		4	SBNO1	12	123794273	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	295818	123794273	10057622	13431	21143											
SBNO1	55206	broad.mit.edu	37	chr12	123814975	123814975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatttcataccttatttaaCgaatgaaccaaaatgttttt	4	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123814975C>T	ENST00000420886.2	-	8	1124	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	SBNO1_ENST00000602750.1_Silent_p.S374S|SBNO1_ENST00000602398.1_Silent_p.S375S|SBNO1_ENST00000267176.4_Silent_p.S374S	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	375							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCTTATTTAACGAATGAACCA	0.294													False	0	False	12:123814975	0	T	123814975	C	T	123814975	2	4	88	1	0	0	0	0	0	0	0	1	13942	523	19	1		1	SBNO1	12	123814975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20702	123814975	10036920	13432	21144											
SETD8	387893	broad.mit.edu	37	chr12	123889552	123889552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacgccaagaaacgggaggCtctgtacgcacaggaccctt	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123889552C>T	ENST00000402868.3	+	7	1205	c.779C>T	c.(778-780)gCt>gTt	p.A260V	SETD8_ENST00000330479.4_Missense_Mutation_p.A260V			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	301	SET.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AAACGGGAGGCTCTGTACGCA	0.542													False	0	False	12:123889552	0	T	123889552	C	T	123889552	3	4	88	1	0	0	0	0	1	0	0	0	14218	797	28	2	805	2	SETD8	12	123889552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74577	123889552	9962343	13433	21145											
SNRNP35	11066	broad.mit.edu	37	chr12	123950548	123950548	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaggagtctgggcaactgaGatttgggggacgggaccggc	18	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123950548G>T	ENST00000526639.2	+	2	1040	c.461G>T	c.(460-462)aGa>aTa	p.R154I	SNRNP35_ENST00000412157.2_Missense_Mutation_p.R159I|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R154I	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	154	Arg-rich.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GGGCAACTGAGATTTGGGGGA	0.517													False	0	False	12:123950548	0	T	123950548	G	T	123950548	3	4	88	1	0	0	0	0	1	0	0	0	14935	942	33	3	482	3	SNRNP35	12	123950548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60996	123950548	9901347	13434	21146											
RILPL1	353116	broad.mit.edu	37	chr12	123983096	123983096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttcctgctcacctcagGctcctcctccccattctggc	6	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123983096G>A	ENST00000376874.4	-	4	1031	c.796C>T	c.(796-798)Cct>Tct	p.P266S	RILPL1_ENST00000340724.6_Missense_Mutation_p.P114S	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	266					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CTCACCTCAGGCTCCTCCTCC	0.607													False	0	True	12:123983096	0	A	123983096	G	A	123983096	3	1	88	1	0	0	0	0	1	0	0	0	13440	1203	42	2	431	2	RILPL1	12	123983096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32548	123983096	9868799	13435	21147											
EIF2B1	1967	broad.mit.edu	37	chr12	124115056	124115056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggcactggtgagattcGccctcagaccctggattgtc	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124115056G>A	ENST00000424014.2	-	3	348	c.140C>T	c.(139-141)gCg>gTg	p.A47V	EIF2B1_ENST00000539951.1_Missense_Mutation_p.A34V|EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000537073.1_Missense_Mutation_p.A47V	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	47					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGTGAGATTCGCCCTCAGACC	0.537													False	0	True	12:124115056	0	A	124115056	G	A	124115056	3	1	88	1	0	0	0	0	1	0	0	0	5030	1087	38	1	805	1	EIF2B1	12	124115056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131960	124115056	9736839	13436	21148											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124221607	124221607	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgttgttcttccccaggTactgcacaaaaccgaggact	8	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124221607T>C	ENST00000330342.3	+	9	1075	c.827T>C	c.(826-828)gTa>gCa	p.V276A		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	276					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CTTCCCCAGGTACTGCACAAA	0.502													False	0	False	12:124221607	0	C	124221607	T	C	124221607	5	2	88	1	0	0	0	0	0	0	1	0	1173	1652	57	4	861	4	ATP6V0A2	12	124221607	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106551	124221607	9630288	13437	21149											
DNAH10	196385	broad.mit.edu	37	chr12	124256171	124256171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcgtgtgtcactgagaaccGaatctctaggccaacctcta	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124256171G>A	ENST00000409039.3	+	3	164	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	47	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTGAGAACCGAATCTCTAGG	0.408													False	0	False	12:124256171	0	A	124256171	G	A	124256171	3	1	88	1	0	0	0	0	1	0	0	0	4628	1059	37	1	149	1	DNAH10	12	124256171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34564	124256171	9595724	13438	21150											
DNAH10	196385	broad.mit.edu	37	chr12	124270422	124270422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgattccgctcatggagCgcatcgcctgggaaatcgct	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124270422C>T	ENST00000409039.3	+	9	1202	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	393	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTCATGGAGCGCATCGCCTG	0.522													False	0	False	12:124270422	0	T	124270422	C	T	124270422	3	4	88	1	0	0	0	0	1	0	0	0	4628	768	27	1	1211	1	DNAH10	12	124270422	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14251	124270422	9581473	13439	21151											
DNAH10	196385	broad.mit.edu	37	chr12	124274538	124274538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgacgggggaccccaagcGcattgatgatgtcctatgca	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124274538G>A	ENST00000409039.3	+	11	1527	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	501	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R501H(1)|p.R319H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACCCCAAGCGCATTGATGAT	0.463													False	0	False	12:124274538	0	A	124274538	G	A	124274538	3	1	88	1	0	0	0	0	1	0	0	0	4628	1087	38	1	1544	1	DNAH10	12	124274538	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4116	124274538	9577357	13440	21152											
DNAH10	196385	broad.mit.edu	37	chr12	124289558	124289558	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatactgggaaaagaaaatTtatgaggtcctgacaaagct	9	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124289558T>G	ENST00000409039.3	+	17	2629	c.2604T>G	c.(2602-2604)atT>atG	p.I868M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	868	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAAGAAAATTTATGAGGTCC	0.443													False	0	True	12:124289558	0	G	124289558	T	G	124289558	3	3	88	1	0	0	0	0	1	0	0	0	4628	1829	64	4	2670	4	DNAH10	12	124289558	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15020	124289558	9562337	13441	21153											
DNAH10	196385	broad.mit.edu	37	chr12	124303737	124303737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actacagagttcagatagagGagtttgcaaagcgtttttac	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124303737G>A	ENST00000409039.3	+	22	3611	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1196	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGATAGAGGAGTTTGCAAA	0.393													False	0	False	12:124303737	0	A	124303737	G	A	124303737	3	1	88	1	0	0	0	0	1	0	0	0	4628	1175	41	2	3672	2	DNAH10	12	124303737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14179	124303737	9548158	13442	21154											
DNAH10	196385	broad.mit.edu	37	chr12	124320029	124320029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatataagatcacaacttcCggaagaggcaaaaaagtttg	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124320029C>T	ENST00000409039.3	+	27	4527	c.4502C>T	c.(4501-4503)cCg>cTg	p.P1501L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1501	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCACAACTTCCGGAAGAGGCA	0.348													False	0	False	12:124320029	0	T	124320029	C	T	124320029	3	4	88	1	0	0	0	0	1	0	0	0	4628	652	23	1	4608	1	DNAH10	12	124320029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16292	124320029	9531866	13443	21155											
DNAH10	196385	broad.mit.edu	37	chr12	124326006	124326007	+	Frame_Shift_Ins	INS	-	-	A													aagggcgcgtggaggactggINSatgacggcagttttgaatga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124326006_124326007insA	ENST00000409039.3	+	29	4945_4946	c.4920_4921insA	c.(4921-4923)atgfs	p.M1641fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1641	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGAGGACTGGATGACGGCAGT	0.465													False	1	False	12:124326006	0	A	124326007	-	A	124326006	7	5	88	1	0	1	1	0	0	0	0	0	4628	1183	41	0	5034	0	DNAH10	12	124326006	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	5977	124326006	9525889	13444	21156	232	2									
DNAH10	196385	broad.mit.edu	37	chr12	124326008	124326009	+	Frame_Shift_Ins	INS	-	-	CAAA													gggcgcgtggaggactggatINSgacggcagttttgaatgaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124326008_124326009insCAAA	ENST00000409039.3	+	29	4947_4948	c.4922_4923insCAAA	c.(4921-4926)atgacgfs	p.MT1641fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1641	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAGGACTGGATGACGGCAGTTT	0.46													False	0	False	12:124326008	0	CAAA	124326009	-	CAAA	124326008	7	5	88	1	0	1	1	0	0	0	0	0	4628	1464	51	0	5036	0	DNAH10	12	124326008	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	2	124326008	9525887	13445	21157	232	2									
DNAH10	196385	broad.mit.edu	37	chr12	124332579	124332579	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccgagaccaccaaggaCctggcgaaagccttgggctt	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124332579C>T	ENST00000409039.3	+	32	5557	c.5532C>T	c.(5530-5532)gaC>gaT	p.D1844D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1844	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCACCAAGGACCTGGCGAAAG	0.552													False	0	False	12:124332579	0	T	124332579	C	T	124332579	2	4	88	1	0	0	0	0	0	0	0	1	4628	506	18	2		2	DNAH10	12	124332579	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6571	124332579	9519316	13446	21158											
DNAH10	196385	broad.mit.edu	37	chr12	124335466	124335466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatttccctggactcccGcatgggcatcttcatcacca	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124335466G>A	ENST00000409039.3	+	34	5805	c.5780G>A	c.(5779-5781)cGc>cAc	p.R1927H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1927	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGACTCCCGCATGGGCATC	0.622													False	0	True	12:124335466	0	A	124335466	G	A	124335466	3	1	88	1	0	0	0	0	1	0	0	0	4628	1087	38	1	5914	1	DNAH10	12	124335466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2887	124335466	9516429	13447	21159											
DNAH10	196385	broad.mit.edu	37	chr12	124359997	124359997	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catttccttcagaggagtctCtgcatttaatttattcctcc	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124359997C>A	ENST00000409039.3	+	46	7829	c.7804C>A	c.(7804-7806)Ctg>Atg	p.L2602M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2602	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAGGAGTCTCTGCATTTAAT	0.448													False	0	False	12:124359997	0	A	124359997	C	A	124359997	3	1	88	1	0	0	0	0	1	0	0	0	4628	912	32	3	7986	3	DNAH10	12	124359997	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24531	124359997	9491898	13448	21160											
DNAH10	196385	broad.mit.edu	37	chr12	124383316	124383316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggcggagaagtccgccGcctgcgaggccttgctggag	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124383316G>A	ENST00000409039.3	+	55	9266	c.9241G>A	c.(9241-9243)Gcc>Acc	p.A3081T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3081	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGTCCGCCGCCTGCGAGGC	0.647													False	0	False	12:124383316	0	A	124383316	G	A	124383316	3	1	88	1	0	0	0	0	1	0	0	0	4628	1087	38	1	9459	1	DNAH10	12	124383316	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23319	124383316	9468579	13449	21161											
DNAH10	196385	broad.mit.edu	37	chr12	124397810	124397810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccgagatcatggagaggCggctgattgccgcagacaaa	14	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124397810C>T	ENST00000409039.3	+	59	9971	c.9946C>T	c.(9946-9948)Cgg>Tgg	p.R3316W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3316					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CATGGAGAGGCGGCTGATTGC	0.537													False	0	False	12:124397810	0	T	124397810	C	T	124397810	3	4	88	1	0	0	0	0	1	0	0	0	4628	759	27	1	10180	1	DNAH10	12	124397810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14494	124397810	9454085	13450	21162											
DNAH10	196385	broad.mit.edu	37	chr12	124415935	124415935	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acacgccagaagtgtttggtCtccaccccaacgctgagatt	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124415935C>A	ENST00000409039.3	+	73	12503	c.12478C>A	c.(12478-12480)Ctc>Atc	p.L4160I	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4160					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTGTTTGGTCTCCACCCCAA	0.577													False	0	False	12:124415935	0	A	124415935	C	A	124415935	3	1	88	1	0	0	0	0	1	0	0	0	4628	913	32	3	12768	3	DNAH10	12	124415935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18125	124415935	9435960	13451	21163											
DNAH10	196385	broad.mit.edu	37	chr12	124416568	124416568	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atcgggcatatccctaatatCtggagaaggcttgctcctga	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124416568C>A	ENST00000409039.3	+	75	12880	c.12855C>A	c.(12853-12855)atC>atA	p.I4285I	DNAH10OS_ENST00000514254.2_Intron|DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4285					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCCTAATATCTGGAGAAGGC	0.478													False	0	False	12:124416568	0	A	124416568	C	A	124416568	2	1	88	1	0	0	0	0	0	0	0	1	4628	903	32	3		3	DNAH10	12	124416568	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	633	124416568	9435327	13452	21164											
CCDC92	80212	broad.mit.edu	37	chr12	124421736	124421736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccgatgtgccaccccgaCgtgggccttgtgcggctttt	13	13	0	0	rs34103982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124421736C>T	ENST00000545135.1	-	3	4110	c.814G>A	c.(814-816)Gtc>Atc	p.V272I	CCDC92_ENST00000545891.1_Missense_Mutation_p.V272I|CCDC92_ENST00000238156.3_Missense_Mutation_p.V289I|CCDC92_ENST00000544798.1_Intron			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	289										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GCCACCCCGACGTGGGCCTTG	0.697													False	0	False	12:124421736	0	T	124421736	C	T	124421736	3	4	88	1	0	0	0	0	1	0	0	0	2892	536	19	1	134	1	CCDC92	12	124421736	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5168	124421736	9430159	13453	21165											
CCDC92	80212	broad.mit.edu	37	chr12	124422143	124422143	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtcaggtaggcgatggtgCtggcccgctgctccagctcg	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124422143C>A	ENST00000545135.1	-	3	3703	c.407G>T	c.(406-408)aGc>aTc	p.S136I	CCDC92_ENST00000545891.1_Missense_Mutation_p.S136I|CCDC92_ENST00000238156.3_Missense_Mutation_p.S153I|CCDC92_ENST00000544798.1_Intron			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	153										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GGCGATGGTGCTGGCCCGCTG	0.622													False	0	False	12:124422143	0	A	124422143	C	A	124422143	3	1	88	1	0	0	0	0	1	0	0	0	2892	797	28	3	541	3	CCDC92	12	124422143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	407	124422143	9429752	13454	21166											
CCDC92	80212	broad.mit.edu	37	chr12	124428028	124428028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgtggctgccatgctgAcatccagaggacctgtgggt	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124428028A>G	ENST00000238156.3	-	3	401	c.47T>C	c.(46-48)gTc>gCc	p.V16A	CCDC92_ENST00000545891.1_5'UTR|CCDC92_ENST00000545135.1_5'UTR|CCDC92_ENST00000544798.1_5'UTR	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	16										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TGCCATGCTGACATCCAGAGG	0.632													False	0	False	12:124428028	0	G	124428028	A	G	124428028	3	3	88	1	0	0	0	0	1	0	0	0	2892	275	10	4	960	4	CCDC92	12	124428028	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5885	124428028	9423867	13455	21167											
ZNF664	144348	broad.mit.edu	37	chr12	124497096	124497096	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aacctttgcatgcatcagagAgtccacaccggagagaagcc	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124497096A>T	ENST00000539644.1	+	6	2235	c.405A>T	c.(403-405)agA>agT	p.R135S	ZNF664_ENST00000337815.4_Missense_Mutation_p.R135S|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000392404.3_Missense_Mutation_p.R135S|ZNF664_ENST00000538932.2_Missense_Mutation_p.R135S			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TGCATCAGAGAGTCCACACCG	0.468													False	0	True	12:124497096	0	T	124497096	A	T	124497096	3	4	88	1	0	0	0	0	1	0	0	0	18155	301	11	5	407	5	ZNF664	12	124497096	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69068	124497096	9354799	13456	21168											
FAM101A	144347	broad.mit.edu	37	chr12	124796398	124796398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccaaatcccccggcgtcggAgatgaggccccggatgctgc	13	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124796398A>G	ENST00000389727.3	+	2	242	c.242A>G	c.(241-243)gAg>gGg	p.E81G	FAM101A_ENST00000546355.1_5'UTR|FAM101A_ENST00000338359.4_5'UTR|FAM101A_ENST00000324038.3_5'UTR			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	81										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCGGCGTCGGAGATGAGGCCC	0.652													False	0	False	12:124796398	0	G	124796398	A	G	124796398	3	3	88	1	0	0	0	0	1	0	0	0	5416	319	11	4	1	4	FAM101A	12	124796398	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	299302	124796398	9055497	13457	21169											
FAM101A	144347	broad.mit.edu	37	chr12	124798899	124798899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctggagccacgcccgcGcgccctgcgcttccgcagca	12	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798899G>A	ENST00000324038.3	+	3	479	c.236G>A	c.(235-237)cGc>cAc	p.R79H	FAM101A_ENST00000546355.1_Missense_Mutation_p.R79H|FAM101A_ENST00000338359.4_Missense_Mutation_p.R79H|FAM101A_ENST00000389727.3_Missense_Mutation_p.R160H	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	160										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCACGCCCGCGCGCCCTGCGC	0.692													False	0	True	12:124798899	0	A	124798899	G	A	124798899	3	1	88	1	0	0	0	0	1	0	0	0	5416	1087	38	1	242	1	FAM101A	12	124798899	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2501	124798899	9052996	13458	21170											
FAM101A	144347	broad.mit.edu	37	chr12	124798970	124798970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactttccggaccaccctgCactgcagcctgggccggccc	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798970C>T	ENST00000324038.3	+	3	550	c.307C>T	c.(307-309)Cac>Tac	p.H103Y	FAM101A_ENST00000546355.1_Missense_Mutation_p.H103Y|FAM101A_ENST00000338359.4_Missense_Mutation_p.H103Y|FAM101A_ENST00000389727.3_Missense_Mutation_p.H184Y	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	184										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GACCACCCTGCACTGCAGCCT	0.706													False	0	True	12:124798970	0	T	124798970	C	T	124798970	3	4	88	1	0	0	0	0	1	0	0	0	5416	710	25	2	313	2	FAM101A	12	124798970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71	124798970	9052925	13459	21171											
NCOR2	9612	broad.mit.edu	37	chr12	124826572	124826572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagggtgggtacaggtgcGggtaggtggggttgggggcc	25	4	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124826572G>A	ENST00000356219.3	-	35	5161	c.5006C>T	c.(5005-5007)cCg>cTg	p.P1669L	NCOR2_ENST00000397355.1_Missense_Mutation_p.P1653L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1652L|NCOR2_ENST00000405201.1_Missense_Mutation_p.P1662L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1652L|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1223L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1670					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTACAGGTGCGGGTAGGTGGG	0.652													False	0	True	12:124826572	0	A	124826572	G	A	124826572	3	1	88	1	0	0	0	0	1	0	0	0	10304	1116	39	1	2615	1	NCOR2	12	124826572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27602	124826572	9025323	13460	21172											
NCOR2	9612	broad.mit.edu	37	chr12	124827723	124827723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacttggcgatctcacgaggCgtcgacgtcagctttcggtc	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124827723C>T	ENST00000356219.3	-	34	4940	c.4785G>A	c.(4783-4785)acG>acA	p.T1595T	NCOR2_ENST00000397355.1_Silent_p.T1579T|NCOR2_ENST00000404621.1_Silent_p.T1578T|NCOR2_ENST00000405201.1_Silent_p.T1588T|NCOR2_ENST00000429285.2_Silent_p.T1578T|NCOR2_ENST00000404121.2_Silent_p.T1149T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1596					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTCACGAGGCGTCGACGTCA	0.657													False	0	False	12:124827723	0	T	124827723	C	T	124827723	2	4	88	1	0	0	0	0	0	0	0	1	10304	755	27	1		1	NCOR2	12	124827723	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1151	124827723	9024172	13461	21173											
NCOR2	9612	broad.mit.edu	37	chr12	124856630	124856630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtagcactggagtcGctgtcctggggggcgcccga	17	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124856630G>A	ENST00000356219.3	-	21	2900	c.2745C>T	c.(2743-2745)agC>agT	p.S915S	NCOR2_ENST00000397355.1_Silent_p.S898S|NCOR2_ENST00000404621.1_Silent_p.S897S|NCOR2_ENST00000405201.1_Silent_p.S915S|NCOR2_ENST00000429285.2_Silent_p.S897S|NCOR2_ENST00000404121.2_Silent_p.S468S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	915					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CACTGGAGTCGCTGTCCTGGG	0.687													False	0	False	12:124856630	0	A	124856630	G	A	124856630	2	1	88	1	0	0	0	0	0	0	0	1	10304	1078	38	1		1	NCOR2	12	124856630	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28907	124856630	8995265	13462	21174											
NCOR2	9612	broad.mit.edu	37	chr12	124885145	124885145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtcttccctggctgttgGcagttttgcggcctttggag	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124885145G>A	ENST00000356219.3	-	16	1870	c.1715C>T	c.(1714-1716)gCc>gTc	p.A572V	NCOR2_ENST00000397355.1_Missense_Mutation_p.A572V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A571V|NCOR2_ENST00000405201.1_Missense_Mutation_p.A572V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A571V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A142V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	572					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGGCTGTTGGCAGTTTTGCG	0.617													False	0	False	12:124885145	0	A	124885145	G	A	124885145	3	1	88	1	0	0	0	0	1	0	0	0	10304	1203	42	2	5985	2	NCOR2	12	124885145	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28515	124885145	8966750	13463	21175											
NCOR2	9612	broad.mit.edu	37	chr12	124885186	124885186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacagcctccttctcgtcGttgtcctcccctgaggtgtc	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124885186G>A	ENST00000356219.3	-	16	1829	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	NCOR2_ENST00000397355.1_Silent_p.N558N|NCOR2_ENST00000404621.1_Silent_p.N557N|NCOR2_ENST00000405201.1_Silent_p.N558N|NCOR2_ENST00000429285.2_Silent_p.N557N|NCOR2_ENST00000404121.2_Silent_p.N128N	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	558					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTTCTCGTCGTTGTCCTCCC	0.587													False	0	False	12:124885186	0	A	124885186	G	A	124885186	2	1	88	1	0	0	0	0	0	0	0	1	10304	1136	40	1		1	NCOR2	12	124885186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41	124885186	8966709	13464	21176											
SCARB1	949	broad.mit.edu	37	chr12	125302125	125302125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagggcccgcgctcccgcacCtgcggcttctcgcccttcag	11	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125302125C>A	ENST00000339570.5	-	2	451	c.255G>T	c.(253-255)caG>caT	p.Q85H	SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Missense_Mutation_p.Q85H|SCARB1_ENST00000261693.6_Missense_Mutation_p.Q85H|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000540495.1_Missense_Mutation_p.Q48H|SCARB1_ENST00000541205.1_Missense_Mutation_p.Q44H|SCARB1_ENST00000544327.1_Missense_Mutation_p.Q31H|SCARB1_ENST00000546215.1_Missense_Mutation_p.Q85H	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	85					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCTCCCGCACCTGCGGCTTCT	0.622													False	0	False	12:125302125	0	A	125302125	C	A	125302125	3	1	88	1	0	0	0	0	1	0	0	0	13961	680	24	3	1442	3	SCARB1	12	125302125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	416939	125302125	8549770	13465	21177											
UBC	7316	broad.mit.edu	37	chr12	125397088	125397088	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggatgccttccttgtcttgGatctttgccttgacattctc	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125397088G>A	ENST00000536769.1	-	1	2806	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	UBC_ENST00000339647.5_Silent_p.I410I|UBC_ENST00000546120.1_Silent_p.I334I|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	410	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCTTGTCTTGGATCTTTGCCT	0.517													False	0	False	12:125397088	0	A	125397088	G	A	125397088	2	1	88	1	0	0	0	0	0	0	0	1	16926	1164	41	2		2	UBC	12	125397088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94963	125397088	8454807	13466	21178											
DHX37	57647	broad.mit.edu	37	chr12	125432718	125432718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagaaggctctccgtacgGggctgcagcctgtggggcag	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125432718G>A	ENST00000308736.2	-	26	3398	c.3300C>T	c.(3298-3300)ccC>ccT	p.P1100P	DHX37_ENST00000544745.1_Silent_p.P887P	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1100							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCTCCGTACGGGGCTGCAGCC	0.627													False	0	True	12:125432718	0	A	125432718	G	A	125432718	2	1	88	1	0	0	0	0	0	0	0	1	4540	1219	43	2		2	DHX37	12	125432718	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35630	125432718	8419177	13467	21179											
DHX37	57647	broad.mit.edu	37	chr12	125434989	125434989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggtgacacagcacccGcccccgctcggggcagtatg	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125434989G>A	ENST00000308736.2	-	23	3189	c.3091C>T	c.(3091-3093)Cgg>Tgg	p.R1031W	DHX37_ENST00000544745.1_Missense_Mutation_p.R818W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1031							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CACAGCACCCGCCCCCGCTCG	0.657													False	0	True	12:125434989	0	A	125434989	G	A	125434989	3	1	88	1	0	0	0	0	1	0	0	0	4540	1086	38	1	402	1	DHX37	12	125434989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2271	125434989	8416906	13468	21180											
DHX37	57647	broad.mit.edu	37	chr12	125437016	125437016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggccaagtggtcccccagGcctgccgtcacgatctgtcg	13	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125437016G>A	ENST00000308736.2	-	21	2894	c.2796C>T	c.(2794-2796)ggC>ggT	p.G932G	DHX37_ENST00000544745.1_Silent_p.G719G	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	932							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGTCCCCCAGGCCTGCCGTCA	0.672													False	0	False	12:125437016	0	A	125437016	G	A	125437016	2	1	88	1	0	0	0	0	0	0	0	1	4540	1190	42	2		2	DHX37	12	125437016	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2027	125437016	8414879	13469	21181											
AACS	65985	broad.mit.edu	37	chr12	125576018	125576018	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaggcgatgctggctgcGgcaagcattggtgccatctg	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125576018G>A	ENST00000316519.6	+	5	725	c.519G>A	c.(517-519)gcG>gcA	p.A173A	AACS_ENST00000261686.6_Silent_p.A173A	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	173					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCTGGCTGCGGCAAGCATTG	0.572													False	0	False	12:125576018	0	A	125576018	G	A	125576018	2	1	88	1	0	0	0	0	0	0	0	1	9	1103	39	1		1	AACS	12	125576018	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139002	125576018	8275877	13470	21182											
TMEM132B	114795	broad.mit.edu	37	chr12	125834834	125834834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtccgggaaggggacacgGccacctttttggtctctctg	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125834834G>A	ENST00000299308.3	+	2	897	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	297						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGGGACACGGCCACCTTTTT	0.532													False	0	False	12:125834834	0	A	125834834	G	A	125834834	3	1	88	1	0	0	0	0	1	0	0	0	16128	1203	42	2	895	2	TMEM132B	12	125834834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	258816	125834834	8017061	13471	21183											
TMEM132B	114795	broad.mit.edu	37	chr12	126128621	126128621	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttctacctccttcccaaaGgtttccaacaactgtgattc	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126128621G>T	ENST00000299308.3	+	6	1430		c.e6-1		TMEM132B_ENST00000535886.1_Splice_Site	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B							integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCTTCCCAAAGGTTTCCAACA	0.428													False	0	True	12:126128621	0	T	126128621	G	T	126128621	5	4	88	1	0	0	0	0	0	0	1	0	16128	1014	35	3	1444	3	TMEM132B	12	126128621	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	293787	126128621	7723274	13472	21184											
TMEM132B	114795	broad.mit.edu	37	chr12	126138750	126138750	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctctgcgtcttctgtctgGccattctggtcttcttgatc	9	12	7	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126138750G>T	ENST00000299308.3	+	9	2739	c.2731G>T	c.(2731-2733)Gcc>Tcc	p.A911S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A423S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	911						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTCTGTCTGGCCATTCTGGT	0.527													False	0	True	12:126138750	0	T	126138750	G	T	126138750	3	4	88	1	0	0	0	0	1	0	0	0	16128	1203	42	3	2765	3	TMEM132B	12	126138750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10129	126138750	7713145	13473	21185											
SLC15A4	121260	broad.mit.edu	37	chr12	129299465	129299465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacaaaagcaaggccgaCgcagacagtggggatcgcat	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129299465C>T	ENST00000266771.5	-	2	736	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	233					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GCAAGGCCGACGCAGACAGTG	0.517													False	0	False	12:129299465	0	T	129299465	C	T	129299465	3	4	88	1	0	0	0	0	1	0	0	0	14482	536	19	1	1064	1	SLC15A4	12	129299465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3160715	129299465	4552430	13474	21186											
GLT1D1	144423	broad.mit.edu	37	chr12	129360481	129360481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatctagaggctgcagggCacgtgtgcgttttgaaggat	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129360481C>T	ENST00000442111.2	+	2	179	c.91C>T	c.(91-93)Cac>Tac	p.H31Y	GLT1D1_ENST00000281703.6_Missense_Mutation_p.H31Y|GLT1D1_ENST00000537468.1_Missense_Mutation_p.H20Y|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	31					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GGCTGCAGGGCACGTGTGCGT	0.463													False	0	True	12:129360481	0	T	129360481	C	T	129360481	3	4	88	1	0	0	0	0	1	0	0	0	6510	710	25	2	97	2	GLT1D1	12	129360481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61016	129360481	4491414	13475	21187											
TMEM132D	121256	broad.mit.edu	37	chr12	129566325	129566325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatggtggtcatcccaagCtcctgccccatcaggatctg	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129566325C>T	ENST00000422113.2	-	7	2228	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E	TMEM132D_ENST00000389441.4_Silent_p.E172E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	634						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCATCCCAAGCTCCTGCCCCA	0.498													False	0	False	12:129566325	0	T	129566325	C	T	129566325	2	4	88	1	0	0	0	0	0	0	0	1	16129	796	28	2		2	TMEM132D	12	129566325	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205844	129566325	4285570	13476	21188											
TMEM132D	121256	broad.mit.edu	37	chr12	130185005	130185005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcattaaatcctggggCaccacttgctcgatggagaa	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130185005C>T	ENST00000422113.2	-	2	644	c.318G>A	c.(316-318)gtG>gtA	p.V106V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	106						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AATCCTGGGGCACCACTTGCT	0.502													False	0	True	12:130185005	0	T	130185005	C	T	130185005	2	4	88	1	0	0	0	0	0	0	0	1	16129	697	25	2		2	TMEM132D	12	130185005	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	618680	130185005	3666890	13477	21189											
TMEM132D	121256	broad.mit.edu	37	chr12	130185134	130185134	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgatatcctggttggcctcCttcaggaagaaggagacgtc	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130185134C>A	ENST00000422113.2	-	2	515	c.189G>T	c.(187-189)aaG>aaT	p.K63N		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	63						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTTGGCCTCCTTCAGGAAGA	0.552													False	0	False	12:130185134	0	A	130185134	C	A	130185134	3	1	88	1	0	0	0	0	1	0	0	0	16129	680	24	3	3142	3	TMEM132D	12	130185134	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	130185134	3666761	13478	21190											
FZD10	11211	broad.mit.edu	37	chr12	130647687	130647687	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgcgaggcagccatccAgttgcacgagttcgcgccgc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130647687A>G	ENST00000229030.4	+	1	684	c.200A>G	c.(199-201)cAg>cGg	p.Q67R	FZD10_ENST00000539839.1_Silent_p.P34P			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	67	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GCAGCCATCCAGTTGCACGAG	0.627													False	0	False	12:130647687	0	G	130647687	A	G	130647687	3	3	88	1	0	0	0	0	1	0	0	0	6171	188	7	4	202	4	FZD10	12	130647687	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	462553	130647687	3204208	13479	21191											
FZD10	11211	broad.mit.edu	37	chr12	130648444	130648444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctggtcctctactacttCggcatggccagctcgctgtg	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130648444C>T	ENST00000539839.1	+	1	1441	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	FZD10_ENST00000229030.4_Silent_p.F319F	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.F319F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCTACTACTTCGGCATGGCCA	0.647													False	0	False	12:130648444	0	T	130648444	C	T	130648444	3	4	88	1	0	0	0	0	1	0	0	0	6171	883	31	1	959	1	FZD10	12	130648444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	757	130648444	3203451	13480	21192											
RIMBP2	23504	broad.mit.edu	37	chr12	130898738	130898738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtttggggacatggtgaGcgggtcgtagtcaaagagag	19	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130898738G>A	ENST00000261655.4	-	14	2747	c.2584C>T	c.(2584-2586)Ctc>Ttc	p.L862F		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	862	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GACATGGTGAGCGGGTCGTAG	0.572													False	0	False	12:130898738	0	A	130898738	G	A	130898738	3	1	88	1	0	0	0	0	1	0	0	0	13442	971	34	2	598	2	RIMBP2	12	130898738	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	250294	130898738	2953157	13481	21193											
RIMBP2	23504	broad.mit.edu	37	chr12	130919324	130919324	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtcgtccaccgaggcGcccctcctcttgaagtctgg	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130919324G>A	ENST00000261655.4	-	11	2320	c.2157C>T	c.(2155-2157)ggC>ggT	p.G719G	RIMBP2_ENST00000535703.1_Silent_p.G627G|RIMBP2_ENST00000536002.1_Silent_p.G627G	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	719						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCACCGAGGCGCCCCTCCTCT	0.642													False	0	True	12:130919324	0	A	130919324	G	A	130919324	2	1	88	1	0	0	0	0	0	0	0	1	13442	1074	38	1		1	RIMBP2	12	130919324	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20586	130919324	2932571	13482	21194											
RIMBP2	23504	broad.mit.edu	37	chr12	130919411	130919411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctctctaggaagacGctccttttctctaacttgga	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130919411G>A	ENST00000261655.4	-	11	2233	c.2070C>T	c.(2068-2070)agC>agT	p.S690S	RIMBP2_ENST00000535703.1_Silent_p.S598S|RIMBP2_ENST00000536002.1_Silent_p.S598S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	690						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTAGGAAGACGCTCCTTTTCT	0.597													False	0	False	12:130919411	0	A	130919411	G	A	130919411	2	1	88	1	0	0	0	0	0	0	0	1	13442	1078	38	1		1	RIMBP2	12	130919411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87	130919411	2932484	13483	21195											
RIMBP2	23504	broad.mit.edu	37	chr12	130921635	130921635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcggggactccagaacttgCtaatggctttgattggggtg	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130921635C>A	ENST00000261655.4	-	10	1970	c.1807G>T	c.(1807-1809)Gca>Tca	p.A603S	RIMBP2_ENST00000535703.1_Missense_Mutation_p.A511S|RIMBP2_ENST00000536002.1_Missense_Mutation_p.A511S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	603	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCAGAACTTGCTAATGGCTTT	0.647													False	0	False	12:130921635	0	A	130921635	C	A	130921635	3	1	88	1	0	0	0	0	1	0	0	0	13442	797	28	3	1391	3	RIMBP2	12	130921635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2224	130921635	2930260	13484	21196											
GPR133	283383	broad.mit.edu	37	chr12	131466502	131466502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgcgtatgggggacaGgtcatctccaatgggttcaa	12	10	4	0	rs138627746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131466502G>T	ENST00000261654.5	+	5	943	c.384G>T	c.(382-384)caG>caT	p.Q128H	GPR133_ENST00000535015.1_Missense_Mutation_p.Q160H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	128					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATGGGGGACAGGTCATCTCCA	0.512													False	0	False	12:131466502	0	T	131466502	G	T	131466502	3	4	88	1	0	0	0	0	1	0	0	0	6689	991	35	3	402	3	GPR133	12	131466502	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	544867	131466502	2385393	13485	21197											
GPR133	283383	broad.mit.edu	37	chr12	131498749	131498749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctcttcccaaggatcgCggaggccatgcatcaccagg	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131498749C>T	ENST00000261654.5	+	13	1896	c.1337C>T	c.(1336-1338)gCg>gTg	p.A446V	GPR133_ENST00000376682.4_Missense_Mutation_p.A132V|GPR133_ENST00000535015.1_Missense_Mutation_p.A478V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	446					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCAAGGATCGCGGAGGCCATG	0.587													False	0	False	12:131498749	0	T	131498749	C	T	131498749	3	4	88	1	0	0	0	0	1	0	0	0	6689	768	27	1	1387	1	GPR133	12	131498749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32247	131498749	2353146	13486	21198											
GPR133	283383	broad.mit.edu	37	chr12	131561384	131561384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccaccaacagcagcaaCcgagtcttcgtgtactgcgc	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131561384C>T	ENST00000261654.5	+	14	2071	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N	GPR133_ENST00000543617.1_Silent_p.N23N|GPR133_ENST00000376682.4_Silent_p.N190N|GPR133_ENST00000535015.1_Silent_p.N536N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	504					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACAGCAGCAACCGAGTCTTCG	0.582													False	0	False	12:131561384	0	T	131561384	C	T	131561384	2	4	88	1	0	0	0	0	0	0	0	1	6689	506	18	2		2	GPR133	12	131561384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62635	131561384	2290511	13487	21199											
GPR133	283383	broad.mit.edu	37	chr12	131622691	131622691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctttcaaggtgagagccGccttcaagcacaaaaccaag	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131622691G>A	ENST00000261654.5	+	24	3005	c.2446G>A	c.(2446-2448)Gcc>Acc	p.A816T	GPR133_ENST00000543617.1_Missense_Mutation_p.A335T|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Missense_Mutation_p.A502T|GPR133_ENST00000535015.1_Missense_Mutation_p.A848T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	816					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGTGAGAGCCGCCTTCAAGCA	0.597													False	0	False	12:131622691	0	A	131622691	G	A	131622691	3	1	88	1	0	0	0	0	1	0	0	0	6689	1087	38	1	2540	1	GPR133	12	131622691	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61307	131622691	2229204	13488	21200											
GPR133	283383	broad.mit.edu	37	chr12	131622774	131622774	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcccttccactcggacctCgtgagtgcagcctccataaa	8	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131622774C>T	ENST00000261654.5	+	24	3088	c.2529C>T	c.(2527-2529)ctC>ctT	p.L843L	GPR133_ENST00000543617.1_Splice_Site_p.L362L|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Splice_Site_p.L529L|GPR133_ENST00000535015.1_Splice_Site_p.L875L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	843					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACTCGGACCTCGTGAGTGCAG	0.622													False	0	False	12:131622774	0	T	131622774	C	T	131622774	5	4	88	1	0	0	0	0	0	0	1	0	6689	898	31	1	2623	1	GPR133	12	131622774	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	131622774	2229121	13489	21201											
MMP17	4326	broad.mit.edu	37	chr12	132329707	132329707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagcactcactttgacgCggtggcccagatccggggtg	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132329707C>T	ENST00000360564.1	+	7	1115	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	MMP17_ENST00000535291.1_Missense_Mutation_p.A254V|MMP17_ENST00000535182.1_3'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	338	Hemopexin-like 1.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CACTTTGACGCGGTGGCCCAG	0.667													False	0	False	12:132329707	0	T	132329707	C	T	132329707	3	4	88	1	0	0	0	0	1	0	0	0	9723	768	27	1	1039	1	MMP17	12	132329707	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	706933	132329707	1522188	13490	21202											
MMP17	4326	broad.mit.edu	37	chr12	132334409	132334409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatacccgcgccccgtctccGacttcagcctcccgcctggc	9	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132334409G>A	ENST00000360564.1	+	9	1369	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	MMP17_ENST00000535291.1_Missense_Mutation_p.D339N|MMP17_ENST00000535004.1_Intron	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	423	Hemopexin-like 2.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCCCGTCTCCGACTTCAGCCT	0.602													False	0	False	12:132334409	0	A	132334409	G	A	132334409	3	1	88	1	0	0	0	0	1	0	0	0	9723	1058	37	1	1301	1	MMP17	12	132334409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4702	132334409	1517486	13491	21203											
ULK1	8408	broad.mit.edu	37	chr12	132393284	132393284	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaaaggcatcatccaccgcGacctgaaaccgcagaacatc	8	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132393284G>A	ENST00000321867.4	+	6	763	c.412G>A	c.(412-414)Gac>Aac	p.D138N		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	138	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CATCCACCGCGACCTGAAACC	0.672													False	0	False	12:132393284	0	A	132393284	G	A	132393284	3	1	88	1	0	0	0	0	1	0	0	0	17059	1058	37	1	434	1	ULK1	12	132393284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58875	132393284	1458611	13492	21204											
ULK1	8408	broad.mit.edu	37	chr12	132394520	132394520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctggccctactgcaacGcaaccacaaggaccgcatgg	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132394520G>A	ENST00000321867.4	+	10	1133	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	261	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTACTGCAACGCAACCACAAG	0.687													False	0	True	12:132394520	0	A	132394520	G	A	132394520	3	1	88	1	0	0	0	0	1	0	0	0	17059	1087	38	1	820	1	ULK1	12	132394520	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1236	132394520	1457375	13493	21205											
ULK1	8408	broad.mit.edu	37	chr12	132405897	132405897	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcggcgctgctgactggcatCtgtgcctgacctttctggcc	12	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132405897C>A	ENST00000321867.4	+	28	3495	c.3144C>A	c.(3142-3144)atC>atA	p.I1048I	ULK1_ENST00000540647.1_Silent_p.I293I	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1048					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGACTGGCATCTGTGCCTGAC	0.677													False	0	False	12:132405897	0	A	132405897	C	A	132405897	2	1	88	1	0	0	0	0	0	0	0	1	17059	903	32	3		3	ULK1	12	132405897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11377	132405897	1445998	13494	21206											
PUS1	80324	broad.mit.edu	37	chr12	132426155	132426155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcagggtgaagggccagaGcttcatgatgcatcagatcc	13	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132426155G>A	ENST00000542167.2	+	4	1457	c.704G>A	c.(703-705)aGc>aAc	p.S235N	PUS1_ENST00000376649.3_Missense_Mutation_p.S288N|PUS1_ENST00000443358.2_Missense_Mutation_p.S260N|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Missense_Mutation_p.S260N			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	288						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AAGGGCCAGAGCTTCATGATG	0.607													False	0	False	12:132426155	0	A	132426155	G	A	132426155	3	1	88	1	0	0	0	0	1	0	0	0	12909	971	34	2	881	2	PUS1	12	132426155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20258	132426155	1425740	13495	21207											
EP400	57634	broad.mit.edu	37	chr12	132475998	132475998	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgcattacaggaaagttcTctggtaagtttggggttgtt	13	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132475998T>C	ENST00000333577.4	+	11	2893	c.2784T>C	c.(2782-2784)tcT>tcC	p.S928S	EP400_ENST00000389562.2_Silent_p.S891S|EP400_ENST00000389561.2_Silent_p.S892S|EP400_ENST00000330386.6_Silent_p.S892S|EP400_ENST00000332482.4_Silent_p.S855S			Q96L91	EP400_HUMAN	E1A binding protein p400	928					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGAAAGTTCTCTGGTAAGTT	0.488													False	0	False	12:132475998	0	C	132475998	T	C	132475998	2	2	88	1	0	0	0	0	0	0	0	1	5181	1538	54	4		4	EP400	12	132475998	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49843	132475998	1375897	13496	21208											
EP400	57634	broad.mit.edu	37	chr12	132498065	132498065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctgatcgactcgccGctgcacaataccttcctgga	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132498065G>A	ENST00000333577.4	+	19	3859	c.3750G>A	c.(3748-3750)ccG>ccA	p.P1250P	EP400_ENST00000389562.2_Silent_p.P1213P|EP400_ENST00000389561.2_Silent_p.P1214P|EP400_ENST00000330386.6_Silent_p.P1214P|EP400_ENST00000332482.4_Silent_p.P1177P			Q96L91	EP400_HUMAN	E1A binding protein p400	1250	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGACTCGCCGCTGCACAATA	0.592													False	0	False	12:132498065	0	A	132498065	G	A	132498065	2	1	88	1	0	0	0	0	0	0	0	1	5181	1074	38	1		1	EP400	12	132498065	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22067	132498065	1353830	13497	21209											
EP400	57634	broad.mit.edu	37	chr12	132502101	132502101	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcaggaggccttgaagagCgggcactttgtcaacgtcct	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132502101C>T	ENST00000333577.4	+	21	4162	c.4053C>T	c.(4051-4053)agC>agT	p.S1351S	EP400_ENST00000389562.2_Silent_p.S1314S|EP400_ENST00000389561.2_Silent_p.S1315S|EP400_ENST00000330386.6_Silent_p.S1315S|EP400_ENST00000332482.4_Silent_p.S1278S			Q96L91	EP400_HUMAN	E1A binding protein p400	1351	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTTGAAGAGCGGGCACTTTG	0.597													False	0	True	12:132502101	0	T	132502101	C	T	132502101	2	4	88	1	0	0	0	0	0	0	0	1	5181	767	27	1		1	EP400	12	132502101	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4036	132502101	1349794	13498	21210											
EP400	57634	broad.mit.edu	37	chr12	132516653	132516653	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgccaaagctcaggagtgGtgcgataggatcgggagatg	17	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132516653G>A	ENST00000333577.4	+	31	6127	c.6018G>A	c.(6016-6018)tgG>tgA	p.W2006*	EP400_ENST00000389562.2_Nonsense_Mutation_p.W1969*|EP400_ENST00000389561.2_Nonsense_Mutation_p.W1970*|EP400_ENST00000330386.6_Nonsense_Mutation_p.W1889*|EP400_ENST00000332482.4_Nonsense_Mutation_p.W1933*			Q96L91	EP400_HUMAN	E1A binding protein p400	2006	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCAGGAGTGGTGCGATAGGA	0.507													False	0	False	12:132516653	0	A	132516653	G	A	132516653	4	1	88	1	0	0	0	0	0	1	0	0	5181	1270	44	2	6021	2	EP400	12	132516653	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14552	132516653	1335242	13499	21211											
EP400	57634	broad.mit.edu	37	chr12	132528242	132528242	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctggaattattccatacttCtattgagcaagaaaaggaga	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132528242C>T	ENST00000333577.4	+	35	6636	c.6527C>T	c.(6526-6528)tCt>tTt	p.S2176F	EP400_ENST00000389562.2_Missense_Mutation_p.S2139F|EP400_ENST00000389561.2_Missense_Mutation_p.S2140F|EP400_ENST00000330386.6_Missense_Mutation_p.S2059F|EP400_ENST00000332482.4_Missense_Mutation_p.S2103F			Q96L91	EP400_HUMAN	E1A binding protein p400	2176					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTCCATACTTCTATTGAGCAA	0.289													False	0	False	12:132528242	0	T	132528242	C	T	132528242	3	4	88	1	0	0	0	0	1	0	0	0	5181	913	32	2	6546	2	EP400	12	132528242	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11589	132528242	1323653	13500	21212											
EP400	57634	broad.mit.edu	37	chr12	132554069	132554069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagatcaccacccctggCgcgcagcagaaggttgccta	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132554069C>T	ENST00000333577.4	+	52	9121	c.9012C>T	c.(9010-9012)ggC>ggT	p.G3004G	EP400_ENST00000389562.2_Silent_p.G2967G|EP400_ENST00000389561.2_Silent_p.G2968G|EP400_ENST00000330386.6_Silent_p.G2887G|EP400_ENST00000332482.4_Silent_p.G2931G			Q96L91	EP400_HUMAN	E1A binding protein p400	3004					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCACCCCTGGCGCGCAGCAGA	0.657													False	0	True	12:132554069	0	T	132554069	C	T	132554069	2	4	88	1	0	0	0	0	0	0	0	1	5181	755	27	1		1	EP400	12	132554069	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25827	132554069	1297826	13501	21213											
EP400	57634	broad.mit.edu	37	chr12	132561978	132561978	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgtggcgctcacgcaggcGacggcggccgggcagcaggt	18	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132561978G>A	ENST00000333577.4	+	54	9349	c.9240G>A	c.(9238-9240)gcG>gcA	p.A3080A	EP400_ENST00000389562.2_Silent_p.A3043A|EP400_ENST00000389561.2_Silent_p.A3044A|EP400_ENST00000330386.6_Silent_p.A2963A|EP400_ENST00000332482.4_Silent_p.A3007A			Q96L91	EP400_HUMAN	E1A binding protein p400	3080					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCACGCAGGCGACGGCGGCCG	0.602													False	0	False	12:132561978	0	A	132561978	G	A	132561978	2	1	88	1	0	0	0	0	0	0	0	1	5181	1045	37	1		1	EP400	12	132561978	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7909	132561978	1289917	13502	21214											
DDX51	317781	broad.mit.edu	37	chr12	132625245	132625245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggtgcaggacgaccagCggcttagagctgaggctgca	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132625245C>T	ENST00000397333.3	-	10	1514	c.1476G>A	c.(1474-1476)ccG>ccA	p.P492P		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	492					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGACGACCAGCGGCTTAGAGC	0.657													False	0	False	12:132625245	0	T	132625245	C	T	132625245	2	4	88	1	0	0	0	0	0	0	0	1	4394	755	27	1		1	DDX51	12	132625245	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63267	132625245	1226650	13503	21215											
DDX51	317781	broad.mit.edu	37	chr12	132626412	132626412	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tacgttttctggacgaggctCtcctgctccttggccagaga	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132626412C>T	ENST00000397333.3	-	6	1016	c.978G>A	c.(976-978)gaG>gaA	p.E326E		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	326	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGACGAGGCTCTCCTGCTCCT	0.577													False	0	False	12:132626412	0	T	132626412	C	T	132626412	2	4	88	1	0	0	0	0	0	0	0	1	4394	912	32	2		2	DDX51	12	132626412	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1167	132626412	1225483	13504	21216											
DDX51	317781	broad.mit.edu	37	chr12	132627285	132627285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggggcacctggaaagtaggAcgagatgccgtgtgcccgca	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132627285A>G	ENST00000397333.3	-	3	696	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	220					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGAAAGTAGGACGAGATGCCG	0.627													False	0	False	12:132627285	0	G	132627285	A	G	132627285	3	3	88	1	0	0	0	0	1	0	0	0	4394	275	10	4	1394	4	DDX51	12	132627285	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	873	132627285	1224610	13505	21217											
NOC4L	79050	broad.mit.edu	37	chr12	132636135	132636135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcctttcatctgtaacCtgctgcgccggcaccctgcc	8	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636135C>T	ENST00000330579.1	+	12	1221	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_Silent_p.L9L	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	394					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CATCTGTAACCTGCTGCGCCG	0.736													False	0	False	12:132636135	0	T	132636135	C	T	132636135	2	4	88	1	0	0	0	0	0	0	0	1	10583	680	24	2		2	NOC4L	12	132636135	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8850	132636135	1215760	13506	21218											
NOC4L	79050	broad.mit.edu	37	chr12	132636673	132636673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgtccaaagccgccagCgtcatcaaccaggccctgtc	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636673C>T	ENST00000330579.1	+	14	1403	c.1362C>T	c.(1360-1362)agC>agT	p.S454S	NOC4L_ENST00000538784.1_Silent_p.S69S	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	454					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		AAGCCGCCAGCGTCATCAACC	0.692													False	0	False	12:132636673	0	T	132636673	C	T	132636673	2	4	88	1	0	0	0	0	0	0	0	1	10583	767	27	1		1	NOC4L	12	132636673	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	538	132636673	1215222	13507	21219											
NOC4L	79050	broad.mit.edu	37	chr12	132636687	132636687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagcgtcatcaaccaggCcctgtccatgcctgaggtca	10	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636687C>T	ENST00000330579.1	+	14	1417	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	NOC4L_ENST00000538784.1_Missense_Mutation_p.A74V	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	459					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		ATCAACCAGGCCCTGTCCATG	0.692													False	0	True	12:132636687	0	T	132636687	C	T	132636687	3	4	88	1	0	0	0	0	1	0	0	0	10583	739	26	2	1430	2	NOC4L	12	132636687	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	132636687	1215208	13508	21220											
GALNT9	50614	broad.mit.edu	37	chr12	132681759	132681759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctttggacatctccacctCcaggcagcggcccgtggccc	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132681759C>T	ENST00000328957.8	-	11	1704	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	GALNT9_ENST00000535228.1_Missense_Mutation_p.E320K|GALNT9_ENST00000541995.1_Missense_Mutation_p.E203K|GALNT9_ENST00000397325.2_Missense_Mutation_p.E203K	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	569	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		ATCTCCACCTCCAGGCAGCGG	0.622													False	0	False	12:132681759	0	T	132681759	C	T	132681759	3	4	88	1	0	0	0	0	1	0	0	0	6263	864	30	2	110	2	GALNT9	12	132681759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45072	132681759	1170136	13509	21221											
P2RX2	0	broad.mit.edu	37	chr12	133196281	133196281	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggggcagcgtgttcaGcatcatcaccagggtcgagg	16	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133196281G>T	ENST00000389110.3	+	3	363	c.326G>T	c.(325-327)aGc>aTc	p.S109I	P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.S109I|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.S109I|P2RX2_ENST00000351222.4_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	109					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGCGTGTTCAGCATCATCACC	0.741													False	0	False	12:133196281	0	T	133196281	G	T	133196281	3	4	88	1	0	0	0	0	1	0	0	0	11408	971	34	3	336	3	P2RX2	12	133196281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	514522	133196281	655614	13510	21222											
POLE	5426	broad.mit.edu	37	chr12	133201511	133201511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtgtggatggtgagggCgaagtctcccgcgcagctgc	18	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133201511C>T	ENST00000320574.5	-	48	6770	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T	POLE_ENST00000535270.1_Missense_Mutation_p.A2216T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2243					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.A2243S(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ATGGTGAGGGCGAAGTCTCCC	0.657								DNA polymerases (catalytic subunits)					False	0	True	12:133201511	0	T	133201511	C	T	133201511	3	4	88	1	0	0	0	0	1	0	0	0	12265	768	27	1	141	1	POLE	12	133201511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5230	133201511	650384	13511	21223											
POLE	5426	broad.mit.edu	37	chr12	133220118	133220118	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacacacacacagcccaggTgcaccagggcccggaacagt	10	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133220118T>C	ENST00000320574.5	-	34	4362	c.4319A>G	c.(4318-4320)cAc>cGc	p.H1440R	POLE_ENST00000535270.1_Missense_Mutation_p.H1413R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1440					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ACAGCCCAGGTGCACCAGGGC	0.607								DNA polymerases (catalytic subunits)					False	0	False	12:133220118	0	C	133220118	T	C	133220118	3	2	88	1	0	0	0	0	1	0	0	0	12265	1696	59	4	2605	4	POLE	12	133220118	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18607	133220118	631777	13512	21224											
POLE	5426	broad.mit.edu	37	chr12	133225890	133225890	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccttggatcaaggtctatAcctgcacaatctgccacgga	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133225890A>G	ENST00000320574.5	-	31	4049		c.e31+1		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CAAGGTCTATACCTGCACAAT	0.652								DNA polymerases (catalytic subunits)					False	0	False	12:133225890	0	G	133225890	A	G	133225890	5	3	88	1	0	0	0	0	0	0	1	0	12265	405	14	4	2929	4	POLE	12	133225890	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5772	133225890	626005	13513	21225											
POLE	5426	broad.mit.edu	37	chr12	133225918	133225918	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatctgccacggaaggtccaGgatgctgcgggcagttcttc	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133225918G>T	ENST00000320574.5	-	31	4022	c.3979C>A	c.(3979-3981)Ctg>Atg	p.L1327M	POLE_ENST00000535270.1_Missense_Mutation_p.L1300M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1327					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGAAGGTCCAGGATGCTGCGG	0.662								DNA polymerases (catalytic subunits)					False	0	False	12:133225918	0	T	133225918	G	T	133225918	3	4	88	1	0	0	0	0	1	0	0	0	12265	991	35	3	2957	3	POLE	12	133225918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28	133225918	625977	13514	21226											
POLE	5426	broad.mit.edu	37	chr12	133244944	133244944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcccaggcactcacccGccagccttctcttctcgtat	6	19	3	0	rs61734163	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133244944G>A	ENST00000320574.5	-	19	2214	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	POLE_ENST00000535270.1_Missense_Mutation_p.A697V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	724					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCACTCACCCGCCAGCCTTCT	0.602								DNA polymerases (catalytic subunits)					False	0	True	12:133244944	0	A	133244944	G	A	133244944	3	1	88	1	0	0	0	0	1	0	0	0	12265	1087	38	1	4813	1	POLE	12	133244944	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19026	133244944	606951	13515	21227											
POLE	5426	broad.mit.edu	37	chr12	133250198	133250198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccggcacatgtcctccGggtctagctccacgggatca	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133250198G>A	ENST00000320574.5	-	13	1365	c.1322C>T	c.(1321-1323)cCg>cTg	p.P441L	POLE_ENST00000535270.1_Missense_Mutation_p.P414L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	441					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CATGTCCTCCGGGTCTAGCTC	0.637								DNA polymerases (catalytic subunits)					False	0	True	12:133250198	0	A	133250198	G	A	133250198	3	1	88	1	0	0	0	0	1	0	0	0	12265	1116	39	1	5686	1	POLE	12	133250198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5254	133250198	601697	13516	21228											
POLE	5426	broad.mit.edu	37	chr12	133253184	133253184	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctggtctgtctcagcatcaGgaaacttgaggggcagtttg	13	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133253184G>C	ENST00000320574.5	-	9	900	c.857C>G	c.(856-858)cCt>cGt	p.P286R	POLE_ENST00000535270.1_Missense_Mutation_p.P259R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	286					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.P286H(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTCAGCATCAGGAAACTTGAG	0.493								DNA polymerases (catalytic subunits)					False	0	False	12:133253184	0	C	133253184	G	C	133253184	3	2	88	1	0	0	0	0	1	0	0	0	12265	1000	35	5	6167	5	POLE	12	133253184	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2986	133253184	598711	13517	21229											
ANKLE2	23141	broad.mit.edu	37	chr12	133306443	133306443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacaagtctctttctactgCattgattcttgaagtcagga	7	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133306443C>T	ENST00000539605.1	-	10	8803	c.2119G>A	c.(2119-2121)Gca>Aca	p.A707T	ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Missense_Mutation_p.A124T|ANKLE2_ENST00000357997.5_Missense_Mutation_p.A769T|ANKLE2_ENST00000542657.1_Missense_Mutation_p.A124T			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	769						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTTTCTACTGCATTGATTCTT	0.423													False	0	False	12:133306443	0	T	133306443	C	T	133306443	3	4	88	1	0	0	0	0	1	0	0	0	633	710	25	2	523	2	ANKLE2	12	133306443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53259	133306443	545452	13518	21230											
ANKLE2	23141	broad.mit.edu	37	chr12	133331501	133331501	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcttcaaaatcctttgtgGgtcctggctgagagctgtga	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133331501G>T	ENST00000539605.1	-	1	6898	c.214C>A	c.(214-216)Cca>Aca	p.P72T	ANKLE2_ENST00000337516.5_Missense_Mutation_p.P134T|ANKLE2_ENST00000357997.5_Missense_Mutation_p.P134T			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	134	LEM.					cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ATCCTTTGTGGGTCCTGGCTG	0.483													False	0	True	12:133331501	0	T	133331501	G	T	133331501	3	4	88	1	0	0	0	0	1	0	0	0	633	1232	43	3	2464	3	ANKLE2	12	133331501	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25058	133331501	520394	13519	21231											
GOLGA3	2802	broad.mit.edu	37	chr12	133359027	133359027	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attcaagagccaacttcttgTttgactcctcaaggcgtttt	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133359027T>C	ENST00000204726.3	-	17	3878	c.3320A>G	c.(3319-3321)aAc>aGc	p.N1107S	GOLGA3_ENST00000456883.2_Missense_Mutation_p.N1107S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.N1107S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1107					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.N1107S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAACTTCTTGTTTGACTCCTC	0.468													False	0	True	12:133359027	0	C	133359027	T	C	133359027	3	2	88	1	0	0	0	0	1	0	0	0	6599	1725	60	4	1208	4	GOLGA3	12	133359027	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27526	133359027	492868	13520	21232											
CHFR	0	broad.mit.edu	37	chr12	133428227	133428227	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggggcgacacgcgggTcctgctcgcgctccgctctc	15	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133428227T>C	ENST00000266880.7	-	13	1565	c.1502A>G	c.(1501-1503)gAc>gGc	p.D501G	CHFR_ENST00000443047.2_Missense_Mutation_p.D410G|CHFR_ENST00000450056.2_Missense_Mutation_p.D490G|CHFR_ENST00000432561.2_Missense_Mutation_p.D502G|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Missense_Mutation_p.D461G|CHFR_ENST00000537522.1_Missense_Mutation_p.D124G			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	502					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GACACGCGGGTCCTGCTCGCG	0.657													False	0	True	12:133428227	0	C	133428227	T	C	133428227	3	2	88	1	0	0	0	0	1	0	0	0	3360	1667	58	4	517	4	CHFR	12	133428227	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69200	133428227	423668	13521	21233											
ZNF10	7556	broad.mit.edu	37	chr12	133732818	133732818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgtaaagaatgtggaaaatCcttcagctggttctctcacc	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133732818C>A	ENST00000248211.6	+	5	1208	c.986C>A	c.(985-987)tCc>tAc	p.S329Y	ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.S195Y|ZNF10_ENST00000426665.2_Missense_Mutation_p.S329Y	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGTGGAAAATCCTTCAGCTGG	0.413													False	0	False	12:133732818	0	A	133732818	C	A	133732818	3	1	88	1	0	0	0	0	1	0	0	0	17795	855	30	3	1000	3	ZNF10	12	133732818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304591	133732818	119077	13522	21234											
ZNF268	10795	broad.mit.edu	37	chr12	133778993	133778993	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccattctaaacatgagCaaactgttattggaataaaa	5	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133778993C>T	ENST00000536435.2	+	6	1051	c.721C>T	c.(721-723)Caa>Taa	p.Q241*	ZNF268_ENST00000537565.1_Nonsense_Mutation_p.Q80*|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000539248.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000228289.5_Nonsense_Mutation_p.Q241*|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	241						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TAAACATGAGCAAACTGTTAT	0.313													False	0	True	12:133778993	0	T	133778993	C	T	133778993	4	4	88	1	0	0	0	0	0	1	0	0	17890	711	25	2		2	ZNF268	12	133778993	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46175	133778993	72902	13523	21235											
ZNF268	10795	broad.mit.edu	37	chr12	133779301	133779301	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaggaaaacattcagtttCcattcacagcttgttataca	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133779301C>T	ENST00000536435.2	+	6	1359	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	ZNF268_ENST00000537565.1_Silent_p.F182F|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Silent_p.F343F|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	343						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CATTCAGTTTCCATTCACAGC	0.393													False	0	True	12:133779301	0	T	133779301	C	T	133779301	2	4	88	1	0	0	0	0	0	0	0	1	17890	854	30	2		2	ZNF268	12	133779301	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308	133779301	72594	13524	21236											
ZNF268	10795	broad.mit.edu	37	chr12	133780923	133780923	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcaactcattgtacatcaaaGaactcattcaggagagaaac	6	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133780923G>T	ENST00000536435.2	+	6	2981	c.2651G>T	c.(2650-2652)aGa>aTa	p.R884I	ZNF268_ENST00000537565.1_Missense_Mutation_p.R723I|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.R884I|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	884						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTACATCAAAGAACTCATTCA	0.408													False	0	True	12:133780923	0	T	133780923	G	T	133780923	3	4	88	1	0	0	0	0	1	0	0	0	17890	942	33	3		3	ZNF268	12	133780923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1622	133780923	70972	13525	21237											
TUBA3C	7278	broad.mit.edu	37	chr13	19751686	19751686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagatgcgaacccagagCcagtgccacccccaaaactg	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:19751686C>T	ENST00000400113.3	-	4	541	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	146					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAACCCAGAGCCAGTGCCACC	0.562													False	0	False	13:19751686	0	T	19751686	C	T	19751686	3	4	88	1	0	0	0	0	1	0	0	0	16830	739	26	2	923	2	TUBA3C	13	19751686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		19751686	95418192	13526	21238											
TPTE2	93492	broad.mit.edu	37	chr13	20025342	20025342	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgatagtggtttcgatgtttCttatctagaaaccgcacaac	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20025342C>A	ENST00000400230.2	-	11	809	c.765G>T	c.(763-765)aaG>aaT	p.K255N	TPTE2_ENST00000255310.6_Missense_Mutation_p.K178N|TPTE2_ENST00000382975.4_Missense_Mutation_p.K215N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K215N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K144N|TPTE2_ENST00000390680.2_Missense_Mutation_p.K178N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K255N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K144N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	255	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTCGATGTTTCTTATCTAGAA	0.363													False	0	True	13:20025342	0	A	20025342	C	A	20025342	3	1	88	1	0	0	0	0	1	0	0	0	16514	912	32	3	843	3	TPTE2	13	20025342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	273656	20025342	95144536	13527	21239											
TPTE2	93492	broad.mit.edu	37	chr13	20077418	20077418	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataattcatttgtgggtggaCtagaggatgacaaaagaata	11	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20077418C>A	ENST00000382977.4	-	2	168		c.e2-1		TPTE2_ENST00000255310.6_5'UTR|TPTE2_ENST00000382975.4_Splice_Site|TPTE2_ENST00000457266.2_Splice_Site|TPTE2_ENST00000390680.2_Splice_Site|TPTE2_ENST00000400103.2_Splice_Site|TPTE2_ENST00000400230.2_5'UTR	NM_199254.2	NP_954863.2	Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGTGGGTGGACTAGAGGATGA	0.358													False	0	False	13:20077418	0	A	20077418	C	A	20077418	5	1	88	1	0	0	0	0	0	0	1	0	16514	579	20	3		3	TPTE2	13	20077418	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52076	20077418	95092460	13528	21240											
ZMYM5	9205	broad.mit.edu	37	chr13	20409711	20409711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtactcttactaggcatgTactctccacagtgttcacag	7	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20409711T>C	ENST00000337963.4	-	7	1421	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	386						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACTAGGCATGTACTCTCCACA	0.373													False	0	False	13:20409711	0	C	20409711	T	C	20409711	3	2	88	1	0	0	0	0	1	0	0	0	17786	1638	57	4	860	4	ZMYM5	13	20409711	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	332293	20409711	94760167	13529	21241											
ZMYM2	7750	broad.mit.edu	37	chr13	20625673	20625673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcaacattgcttactgcGtttctactgtcaacaaaatg	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20625673G>A	ENST00000382869.3	+	13	2644	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	ZMYM2_ENST00000382883.3_Missense_Mutation_p.R280H|ZMYM2_ENST00000382874.2_Missense_Mutation_p.R798H|ZMYM2_ENST00000382871.2_Missense_Mutation_p.R798H	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TGCTTACTGCGTTTCTACTGT	0.398													False	0	True	13:20625673	0	A	20625673	G	A	20625673	3	1	88	1	0	0	0	0	1	0	0	0	17783	1145	40	1	2435	1	ZMYM2	13	20625673	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215962	20625673	94544205	13530	21242											
ZMYM2	7750	broad.mit.edu	37	chr13	20635250	20635250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgagaagattcctgcaGcaattgaggagctaaaaagc	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20635250G>A	ENST00000382869.3	+	17	3048	c.2797G>A	c.(2797-2799)Gca>Aca	p.A933T	ZMYM2_ENST00000382874.2_Missense_Mutation_p.A933T|ZMYM2_ENST00000382871.2_Missense_Mutation_p.A933T	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	933					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GATTCCTGCAGCAATTGAGGA	0.408													False	0	False	13:20635250	0	A	20635250	G	A	20635250	3	1	88	1	0	0	0	0	1	0	0	0	17783	971	34	2	2855	2	ZMYM2	13	20635250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9577	20635250	94534628	13531	21243											
GJA3	2700	broad.mit.edu	37	chr13	20716897	20716897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcggtcgcagcggtagagCggcttcagctcgaagccgta	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20716897C>T	ENST00000241125.3	-	2	707	c.531G>A	c.(529-531)ccG>ccA	p.P177P		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	177					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGCGGTAGAGCGGCTTCAGCT	0.597													False	0	False	13:20716897	0	T	20716897	C	T	20716897	2	4	88	1	0	0	0	0	0	0	0	1	6447	755	27	1		1	GJA3	13	20716897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81647	20716897	94452981	13532	21244											
GJA3	2700	broad.mit.edu	37	chr13	20717142	20717142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcgcacgatgtgcagcaCgtggcccaggtagatgaggg	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20717142C>T	ENST00000241125.3	-	2	462	c.286G>A	c.(286-288)Gtg>Atg	p.V96M		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	96					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		ATGTGCAGCACGTGGCCCAGG	0.607													False	0	False	13:20717142	0	T	20717142	C	T	20717142	3	4	88	1	0	0	0	0	1	0	0	0	6447	536	19	1	1025	1	GJA3	13	20717142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245	20717142	94452736	13533	21245											
GJB2	0	broad.mit.edu	37	chr13	20763277	20763277	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagacgtacatgaaggcGgcttcgaagatgacccggaa	13	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20763277G>A	ENST00000382844.1	-	1	642	c.444C>T	c.(442-444)gcC>gcT	p.A148A	GJB2_ENST00000382848.4_Silent_p.A148A			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	148					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		ACATGAAGGCGGCTTCGAAGA	0.542									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	13:20763277	0	A	20763277	G	A	20763277	2	1	88	1	0	0	0	0	0	0	0	1	6453	1103	39	1		1	GJB2	13	20763277	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46135	20763277	94406601	13534	21246											
GJB6	0	broad.mit.edu	37	chr13	20797436	20797436	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtggtcatagcacacatTtttgcatcccggttgcagtg	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20797436T>G	ENST00000356192.6	-	5	804	c.184A>C	c.(184-186)Aat>Cat	p.N62H	GJB6_ENST00000241124.6_Missense_Mutation_p.N62H|GJB6_ENST00000400066.3_Missense_Mutation_p.N62H|GJB6_ENST00000400065.3_Missense_Mutation_p.N62H	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	62					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TAGCACACATTTTTGCATCCC	0.567													False	0	True	13:20797436	0	G	20797436	T	G	20797436	3	3	88	1	0	0	0	0	1	0	0	0	6457	1841	64	4	605	4	GJB6	13	20797436	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34159	20797436	94372442	13535	21247											
GJB6	0	broad.mit.edu	37	chr13	20797589	20797589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgtttgttgacaccccCgatgaaagtgtgcagcgtcc	13	10	0	2	rs104894415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20797589C>T	ENST00000356192.6	-	5	651	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	GJB6_ENST00000241124.6_Missense_Mutation_p.G11R|GJB6_ENST00000400066.3_Missense_Mutation_p.G11R|GJB6_ENST00000400065.3_Missense_Mutation_p.G11R	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	11			G -> R (in ED2).	G -> E (in Ref. 9; AAV67951).	cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TTGACACCCCCGATGAAAGTG	0.507													False	0	True	13:20797589	0	T	20797589	C	T	20797589	3	4	88	1	0	0	0	0	1	0	0	0	6457	652	23	1	758	1	GJB6	13	20797589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153	20797589	94372289	13536	21248											
IFT88	8100	broad.mit.edu	37	chr13	21212570	21212570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaagggaatacagtttttGcaaatggtgattatgagaag	11	2	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21212570G>A	ENST00000382778.4	+	18	2631	c.1513G>A	c.(1513-1515)Gca>Aca	p.A505T	IFT88_ENST00000351808.5_Missense_Mutation_p.A496T|IFT88_ENST00000537103.1_Missense_Mutation_p.A477T|IFT88_ENST00000319980.6_Missense_Mutation_p.A505T			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	505					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TACAGTTTTTGCAAATGGTGA	0.368													False	0	True	13:21212570	0	A	21212570	G	A	21212570	3	1	88	1	0	0	0	0	1	0	0	0	7616	1319	46	2	1579	2	IFT88	13	21212570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	414981	21212570	93957308	13537	21249											
N6AMT2	221143	broad.mit.edu	37	chr13	21303256	21303256	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccagaatcataattcacaTaacagcgaaactcatttgcc	5	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21303256T>C	ENST00000382758.1	-	5	655	c.608A>G	c.(607-609)tAt>tGt	p.Y203C	N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y203C			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	203							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAATTCACATAACAGCGAAA	0.463													False	0	False	13:21303256	0	C	21303256	T	C	21303256	3	2	88	1	0	0	0	0	1	0	0	0	10182	1406	49	4	40	4	N6AMT2	13	21303256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	90686	21303256	93866622	13538	21250											
XPO4	64328	broad.mit.edu	37	chr13	21383304	21383304	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgatcagaaaactggtctcGatcatcctcttgaagttcac	7	10	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21383304G>A	ENST00000400602.2	-	11	1446	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	XPO4_ENST00000255305.6_Nonsense_Mutation_p.R471*	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	471					protein transport	cytoplasm|nucleus	protein binding	p.R444*(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AACTGGTCTCGATCATCCTCT	0.428													False	0	False	13:21383304	0	A	21383304	G	A	21383304	4	1	88	1	0	0	0	0	0	1	0	0	17530	1066	37	1	2096	1	XPO4	13	21383304	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80048	21383304	93786574	13539	21251											
XPO4	64328	broad.mit.edu	37	chr13	21383952	21383952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttcttgtgccatctggaGcagctaggtggcactgaata	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21383952G>A	ENST00000400602.2	-	10	1363	c.1328C>T	c.(1327-1329)gCt>gTt	p.A443V	XPO4_ENST00000255305.6_Missense_Mutation_p.A443V	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	443					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GCCATCTGGAGCAGCTAGGTG	0.343													False	0	False	13:21383952	0	A	21383952	G	A	21383952	3	1	88	1	0	0	0	0	1	0	0	0	17530	971	34	2	2183	2	XPO4	13	21383952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	648	21383952	93785926	13540	21252											
LATS2	26524	broad.mit.edu	37	chr13	21549149	21549149	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtcatcaaagaaccttcGgaaggtgaattcgtaaaatg	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21549149G>A	ENST00000382592.4	-	8	3532	c.3127C>T	c.(3127-3129)Cga>Tga	p.R1043*	LATS2_ENST00000542899.1_Nonsense_Mutation_p.R1043*	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	1043	AGC-kinase C-terminal.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AAGAACCTTCGGAAGGTGAAT	0.512													False	0	False	13:21549149	0	A	21549149	G	A	21549149	4	1	88	1	0	0	0	0	0	1	0	0	8698	1124	39	1	143	1	LATS2	13	21549149	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165197	21549149	93620729	13541	21253											
LATS2	26524	broad.mit.edu	37	chr13	21562824	21562824	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccggccactgctggacggaGgtgctgcccaattcatacag	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21562824G>T	ENST00000382592.4	-	4	1500	c.1095C>A	c.(1093-1095)acC>acA	p.T365T	LATS2_ENST00000542899.1_Silent_p.T365T	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	365					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCTGGACGGAGGTGCTGCCCA	0.726													False	0	False	13:21562824	0	T	21562824	G	T	21562824	2	4	88	1	0	0	0	0	0	0	0	1	8698	987	35	3		3	LATS2	13	21562824	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13675	21562824	93607054	13542	21254											
SAP18	10284	broad.mit.edu	37	chr13	21720978	21720978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagaactgacaagcttaGtaaaagaagtctacccagaa	8	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21720978G>A	ENST00000382533.4	+	3	313	c.274G>A	c.(274-276)Gta>Ata	p.V92I	SAP18_ENST00000607003.1_Missense_Mutation_p.V73I	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	73					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		GACAAGCTTAGTAAAAGAAGT	0.343													False	0	False	13:21720978	0	A	21720978	G	A	21720978	3	1	88	1	0	0	0	0	1	0	0	0	13911	1029	36	2	284	2	SAP18	13	21720978	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158154	21720978	93448900	13543	21255											
SKA3	221150	broad.mit.edu	37	chr13	21729846	21729846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccagttttctttgttGctgacatctcggatgttctg	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21729846G>A	ENST00000314759.5	-	8	1348	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	SKA3_ENST00000400018.3_Intron	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	408					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTCTTTGTTGCTGACATCTC	0.363													False	0	False	13:21729846	0	A	21729846	G	A	21729846	2	1	88	1	0	0	0	0	0	0	0	1	14435	1310	46	2		2	SKA3	13	21729846	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8868	21729846	93440032	13544	21256											
SKA3	221150	broad.mit.edu	37	chr13	21732194	21732194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtctgaatttaaaaccaacGaagtacgatcttcaacttcc	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21732194G>A	ENST00000314759.5	-	7	1110	c.986C>T	c.(985-987)tCg>tTg	p.S329L	SKA3_ENST00000400018.3_Missense_Mutation_p.S329L	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	329					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TAAAACCAACGAAGTACGATC	0.333													False	0	False	13:21732194	0	A	21732194	G	A	21732194	3	1	88	1	0	0	0	0	1	0	0	0	14435	1059	37	1	311	1	SKA3	13	21732194	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2348	21732194	93437684	13545	21257											
SACS	26278	broad.mit.edu	37	chr13	23904672	23904672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcttgtcttagccatctgCgtgcttccactggattgcca	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23904672C>T	ENST00000382298.3	-	10	13931	c.13343G>A	c.(13342-13344)cGc>cAc	p.R4448H	SACS_ENST00000382292.3_Missense_Mutation_p.R4448H|SACS_ENST00000402364.1_Missense_Mutation_p.R3698H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4448					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAGCCATCTGCGTGCTTCCAC	0.468													False	0	False	13:23904672	0	T	23904672	C	T	23904672	3	4	88	1	0	0	0	0	1	0	0	0	13883	768	27	1	400	1	SACS	13	23904672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2172478	23904672	91265206	13546	21258											
SACS	26278	broad.mit.edu	37	chr13	23905023	23905023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgccatttcaaatacaacCgcctaataatcttttttcgt	4	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23905023C>T	ENST00000382298.3	-	10	13580	c.12992G>A	c.(12991-12993)cGg>cAg	p.R4331Q	SACS_ENST00000382292.3_Missense_Mutation_p.R4331Q|SACS_ENST00000402364.1_Missense_Mutation_p.R3581Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4331	J.		R -> Q (in SACS).		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAATACAACCGCCTAATAAT	0.353													False	0	False	13:23905023	0	T	23905023	C	T	23905023	3	4	88	1	0	0	0	0	1	0	0	0	13883	652	23	1	751	1	SACS	13	23905023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	351	23905023	91264855	13547	21259											
SACS	26278	broad.mit.edu	37	chr13	23905812	23905812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcaaaagtttcacttctgCtgtggggaataggattaaaa	10	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23905812C>A	ENST00000382298.3	-	10	12791	c.12203G>T	c.(12202-12204)aGc>aTc	p.S4068I	SACS_ENST00000382292.3_Missense_Mutation_p.S4068I|SACS_ENST00000402364.1_Missense_Mutation_p.S3318I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4068					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCACTTCTGCTGTGGGGAAT	0.353													False	0	False	13:23905812	0	A	23905812	C	A	23905812	3	1	88	1	0	0	0	0	1	0	0	0	13883	797	28	3	1540	3	SACS	13	23905812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	789	23905812	91264066	13548	21260											
SACS	26278	broad.mit.edu	37	chr13	23910147	23910147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acacagaattgaatcctattCcatactgtccagttttataa	4	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23910147C>A	ENST00000382298.3	-	10	8456	c.7868G>T	c.(7867-7869)gGa>gTa	p.G2623V	SACS_ENST00000382292.3_Missense_Mutation_p.G2623V|SACS_ENST00000402364.1_Missense_Mutation_p.G1873V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2623					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATCCTATTCCATACTGTCC	0.388													False	0	False	13:23910147	0	A	23910147	C	A	23910147	3	1	88	1	0	0	0	0	1	0	0	0	13883	855	30	3	5875	3	SACS	13	23910147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4335	23910147	91259731	13549	21261											
SACS	26278	broad.mit.edu	37	chr13	23910802	23910802	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctttcttgatcaatagattCcaaaacaagagcaaaatctt	4	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23910802C>A	ENST00000382298.3	-	10	7801	c.7213G>T	c.(7213-7215)Gaa>Taa	p.E2405*	SACS_ENST00000382292.3_Nonsense_Mutation_p.E2405*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E1655*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2405					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCAATAGATTCCAAAACAAGA	0.363													False	0	False	13:23910802	0	A	23910802	C	A	23910802	4	1	88	1	0	0	0	0	0	1	0	0	13883	864	30	3	6530	3	SACS	13	23910802	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	655	23910802	91259076	13550	21262											
SACS	26278	broad.mit.edu	37	chr13	23911291	23911291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtataaaggtcagttgCtgcaaacatggtttcaggct	11	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23911291C>T	ENST00000382298.3	-	10	7312	c.6724G>A	c.(6724-6726)Gca>Aca	p.A2242T	SACS_ENST00000382292.3_Missense_Mutation_p.A2242T|SACS_ENST00000402364.1_Missense_Mutation_p.A1492T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2242					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGTCAGTTGCTGCAAACATG	0.373													False	0	False	13:23911291	0	T	23911291	C	T	23911291	3	4	88	1	0	0	0	0	1	0	0	0	13883	797	28	2	7019	2	SACS	13	23911291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	489	23911291	91258587	13551	21263											
SACS	26278	broad.mit.edu	37	chr13	23912282	23912282	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaataacatgtctcatgaaCgtggtattccatcgtccttt	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23912282C>T	ENST00000382298.3	-	10	6321	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T	SACS_ENST00000382292.3_Silent_p.T1911T|SACS_ENST00000402364.1_Silent_p.T1161T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1911					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTCTCATGAACGTGGTATTCC	0.408													False	0	False	13:23912282	0	T	23912282	C	T	23912282	2	4	88	1	0	0	0	0	0	0	0	1	13883	523	19	1		1	SACS	13	23912282	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	991	23912282	91257596	13552	21264											
SACS	26278	broad.mit.edu	37	chr13	23915088	23915088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaacatgtttgccagaCgaatagtagcttcatcacta	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23915088C>T	ENST00000382298.3	-	10	3515	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	SACS_ENST00000382292.3_Missense_Mutation_p.R976H|SACS_ENST00000402364.1_Missense_Mutation_p.R226H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	976					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTGCCAGACGAATAGTAGC	0.348													False	0	False	13:23915088	0	T	23915088	C	T	23915088	3	4	88	1	0	0	0	0	1	0	0	0	13883	536	19	1	10816	1	SACS	13	23915088	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2806	23915088	91254790	13553	21265											
SACS	26278	broad.mit.edu	37	chr13	23929330	23929330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccattttatgctcctgCggttatcagtaaggccaaag	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929330C>T	ENST00000382298.3	-	8	2009	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	SACS_ENST00000382292.3_Missense_Mutation_p.R474H|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	474					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TATGCTCCTGCGGTTATCAGT	0.483													False	0	False	13:23929330	0	T	23929330	C	T	23929330	3	4	88	1	0	0	0	0	1	0	0	0	13883	768	27	1	12330	1	SACS	13	23929330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14242	23929330	91240548	13554	21266											
SACS	26278	broad.mit.edu	37	chr13	23929587	23929587	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacaccaaccaagatgttttCtgtgcatccttagtactctc	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929587C>A	ENST00000382298.3	-	8	1752	c.1164G>T	c.(1162-1164)caG>caT	p.Q388H	SACS_ENST00000382292.3_Missense_Mutation_p.Q388H|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	388					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGATGTTTTCTGTGCATCCT	0.383													False	0	True	13:23929587	0	A	23929587	C	A	23929587	3	1	88	1	0	0	0	0	1	0	0	0	13883	912	32	3	12587	3	SACS	13	23929587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257	23929587	91240291	13555	21267											
SACS	26278	broad.mit.edu	37	chr13	23929960	23929960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgttcctggaaaattgCcgtttataaatgtttccttg	7	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929960C>T	ENST00000382298.3	-	8	1379	c.791G>A	c.(790-792)gGc>gAc	p.G264D	SACS_ENST00000382292.3_Missense_Mutation_p.G264D|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	264					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.G117D(1)|p.G264D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGGAAAATTGCCGTTTATAAA	0.388													False	0	False	13:23929960	0	T	23929960	C	T	23929960	3	4	88	1	0	0	0	0	1	0	0	0	13883	739	26	2	12960	2	SACS	13	23929960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	373	23929960	91239918	13556	21268											
SACS	26278	broad.mit.edu	37	chr13	23932601	23932601	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgaaaaccgcgttgttGtacacatagagagctggccc	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23932601G>A	ENST00000382298.3	-	7	1065	c.477C>T	c.(475-477)taC>taT	p.Y159Y	SACS_ENST00000382292.3_Silent_p.Y159Y|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	159					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCGCGTTGTTGTACACATAGA	0.453													False	0	False	13:23932601	0	A	23932601	G	A	23932601	2	1	88	1	0	0	0	0	0	0	0	1	13883	1372	48	2		2	SACS	13	23932601	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2641	23932601	91237277	13557	21269											
TNFRSF19	55504	broad.mit.edu	37	chr13	24190110	24190110	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagccctgtctggactgCgcagtggtgaaccgctttca	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24190110C>T	ENST00000382263.3	+	4	469	c.285C>T	c.(283-285)tgC>tgT	p.C95C	TNFRSF19_ENST00000248484.4_Silent_p.C95C|TNFRSF19_ENST00000403372.2_5'UTR|TNFRSF19_ENST00000382258.4_Silent_p.C95C	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	95					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTCTGGACTGCGCAGTGGTGA	0.572													False	0	False	13:24190110	0	T	24190110	C	T	24190110	2	4	88	1	0	0	0	0	0	0	0	1	16374	776	27	1		1	TNFRSF19	13	24190110	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257509	24190110	90979768	13558	21270											
TNFRSF19	55504	broad.mit.edu	37	chr13	24200923	24200923	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaccctcctcctccttacgAaccgcactgtgagtgaacgc	8	16	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24200923A>C	ENST00000382263.3	+	5	621	c.437A>C	c.(436-438)gAa>gCa	p.E146A	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E146A|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.E14A|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.E146A	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	146					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CCTCCTTACGAACCGCACTGT	0.468													False	0	False	13:24200923	0	C	24200923	A	C	24200923	3	2	88	1	0	0	0	0	1	0	0	0	16374	246	9	4	451	4	TNFRSF19	13	24200923	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10813	24200923	90968955	13559	21271											
TNFRSF19	55504	broad.mit.edu	37	chr13	24242173	24242173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcctgcagccccaaccCggcgactcttggttgtgggg	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24242173C>T	ENST00000382263.3	+	8	975	c.791C>T	c.(790-792)cCg>cTg	p.P264L	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P264L|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P132L|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.P264L	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	264					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		AGCCCCAACCCGGCGACTCTT	0.557													False	0	True	13:24242173	0	T	24242173	C	T	24242173	3	4	88	1	0	0	0	0	1	0	0	0	16374	652	23	1	817	1	TNFRSF19	13	24242173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41250	24242173	90927705	13560	21272											
TNFRSF19	55504	broad.mit.edu	37	chr13	24243246	24243246	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccctccaggtaaggcagCgactgggttccctgtgaaca	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24243246C>T	ENST00000382258.4	+	9	1459	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	TNFRSF19_ENST00000248484.4_Intron|TNFRSF19_ENST00000382263.3_Intron|TNFRSF19_ENST00000403372.2_Intron	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	419					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GGTAAGGCAGCGACTGGGTTC	0.493													False	0	False	13:24243246	0	T	24243246	C	T	24243246	4	4	88	1	0	0	0	0	0	1	0	0	16374	760	27	1	1285	1	TNFRSF19	13	24243246	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1073	24243246	90926632	13561	21273											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465977	24465977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatagggcccatggggccCggtaaaccagttgggcccaa	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24465977C>T	ENST00000382137.3	-	3	521	c.453G>A	c.(451-453)ccG>ccA	p.P151P	C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382140.2_Silent_p.P151P|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382145.1_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	151	Collagen-like 2.					collagen		p.P151P(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CCATGGGGCCCGGTAAACCAG	0.642													False	0	True	13:24465977	0	T	24465977	C	T	24465977	2	4	88	1	0	0	0	0	0	0	0	1	1986	639	23	1		1	C1QTNF9B	13	24465977	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222731	24465977	90703901	13562	21274											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24471055	24471055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggattccagggtgcccttgcCtgcaggtgtcctgtgagttt	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24471055C>A	ENST00000382137.3	-	1	139	c.71G>T	c.(70-72)aGg>aTg	p.R24M	C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.R24M|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R24M|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.R24M	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	24	Collagen-like 1.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GTGCCCTTGCCTGCAGGTGTC	0.542													False	0	False	13:24471055	0	A	24471055	C	A	24471055	3	1	88	1	0	0	0	0	1	0	0	0	1986	681	24	3	941	3	C1QTNF9B	13	24471055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5078	24471055	90698823	13563	21275											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24471132	24471132	+	Translation_Start_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caccagatcctcatggttcaGatgacagactgaactgaaag	9	10	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24471132G>T	ENST00000382137.3	-	0	62				C1QTNF9B_ENST00000382057.3_De_novo_Start_OutOfFrame|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382140.2_De_novo_Start_OutOfFrame|C1QTNF9B_ENST00000382145.1_De_novo_Start_OutOfFrame	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B							collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCATGGTTCAGATGACAGACT	0.527													False	0	False	13:24471132	0	T	24471132	G	T	24471132	1	4	88	1	0	0	0	0	0	0	0	0	1986	957	33	3		3	C1QTNF9B	13	24471132	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77	24471132	90698746	13564	21276											
SPATA13	221178	broad.mit.edu	37	chr13	24860906	24860906	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatgtgggttgcagttgCgagtgaatcaggaagagctg	16	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24860906C>T	ENST00000424834.2	+	9	2958	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	SPATA13_ENST00000409126.1_Intron|SPATA13_ENST00000343003.6_Nonsense_Mutation_p.R148*|SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R829*|SPATA13_ENST00000399949.2_Nonsense_Mutation_p.R126*|RP11-307N16.6_ENST00000382141.4_Nonsense_Mutation_p.R707*|SPATA13_ENST00000382095.4_Nonsense_Mutation_p.R204*			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	204					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GTTGCAGTTGCGAGTGAATCA	0.597													False	0	False	13:24860906	0	T	24860906	C	T	24860906	4	4	88	1	0	0	0	0	0	1	0	0	15082	760	27	1	2507	1	SPATA13	13	24860906	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	389774	24860906	90308972	13565	21277											
C1QTNF9	338872	broad.mit.edu	37	chr13	24895592	24895592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgataagatcctgtataacGaattcaaccattatgataca	5	7	1	3	rs146807462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24895592G>A	ENST00000382071.2	+	4	773	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E230K			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	230	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCTGTATAACGAATTCAACCA	0.428													False	0	False	13:24895592	0	A	24895592	G	A	24895592	3	1	88	1	0	0	0	0	1	0	0	0	1985	1059	37	1	698	1	C1QTNF9	13	24895592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34686	24895592	90274286	13566	21278											
PARP4	143	broad.mit.edu	37	chr13	25008755	25008755	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaggacatcgacttccttcGagactgcctactgattcttc	7	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25008755G>A	ENST00000381989.3	-	31	4629	c.4524C>T	c.(4522-4524)ctC>ctT	p.L1508L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1508					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GACTTCCTTCGAGACTGCCTA	0.443													False	0	True	13:25008755	0	A	25008755	G	A	25008755	2	1	88	1	0	0	0	0	0	0	0	1	11531	1045	37	1		1	PARP4	13	25008755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113163	25008755	90161123	13567	21279											
PARP4	143	broad.mit.edu	37	chr13	25068788	25068788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaaatccttgtttcttcaGttcttcaatgtaattttcaa	4	7	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25068788G>A	ENST00000381989.3	-	7	769	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	222					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGTTTCTTCAGTTCTTCAATG	0.323													False	0	False	13:25068788	0	A	25068788	G	A	25068788	2	1	88	1	0	0	0	0	0	0	0	1	11531	1020	36	2		2	PARP4	13	25068788	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60033	25068788	90101090	13568	21280											
PARP4	143	broad.mit.edu	37	chr13	25068831	25068831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcacttgcatcttcagaGgttttctttatagcaaactg	6	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25068831G>A	ENST00000381989.3	-	7	726	c.621C>T	c.(619-621)acC>acT	p.T207T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	207					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CATCTTCAGAGGTTTTCTTTA	0.313													False	0	False	13:25068831	0	A	25068831	G	A	25068831	2	1	88	1	0	0	0	0	0	0	0	1	11531	987	35	2		2	PARP4	13	25068831	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43	25068831	90101047	13569	21281											
ATP12A	479	broad.mit.edu	37	chr13	25264557	25264557	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggacattgtggaggtcaaaGgaggagaccagatccctgca	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25264557G>T	ENST00000218548.6	+	6	961	c.628G>T	c.(628-630)Gga>Tga	p.G210*	ATP12A_ENST00000381946.3_Nonsense_Mutation_p.G210*	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	210					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGAGGTCAAAGGAGGAGACCA	0.552													False	0	True	13:25264557	0	T	25264557	G	T	25264557	4	4	88	1	0	0	0	0	0	1	0	0	1126	1001	35	3	650	3	ATP12A	13	25264557	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195726	25264557	89905321	13570	21282											
ATP12A	479	broad.mit.edu	37	chr13	25264578	25264578	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggagaccagatccctgcaGacatcagggtgctgtcttct	12	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25264578G>A	ENST00000218548.6	+	6	982	c.649G>A	c.(649-651)Gac>Aac	p.D217N	ATP12A_ENST00000381946.3_Missense_Mutation_p.D217N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	217					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GATCCCTGCAGACATCAGGGT	0.577													False	0	False	13:25264578	0	A	25264578	G	A	25264578	3	1	88	1	0	0	0	0	1	0	0	0	1126	942	33	2	671	2	ATP12A	13	25264578	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	25264578	89905300	13571	21283											
ATP12A	479	broad.mit.edu	37	chr13	25268581	25268581	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttcttctttgattcccaGaaagctgtgattggagatgc	9	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25268581G>T	ENST00000218548.6	+	11	1728		c.e11-1		ATP12A_ENST00000381946.3_Splice_Site	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide						ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTGATTCCCAGAAAGCTGTGA	0.403											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	13:25268581	0	T	25268581	G	T	25268581	5	4	88	1	0	0	0	0	0	0	1	0	1126	956	33	3	1437	3	ATP12A	13	25268581	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4003	25268581	89901297	13572	21284											
ATP12A	479	broad.mit.edu	37	chr13	25281487	25281487	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaacattgccgagctgtgCccctttctgatctacatcat	7	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25281487C>T	ENST00000218548.6	+	17	2760	c.2427C>T	c.(2425-2427)tgC>tgT	p.C809C	ATP12A_ENST00000381946.3_Silent_p.C803C	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	803					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCGAGCTGTGCCCCTTTCTGA	0.488													False	0	True	13:25281487	0	T	25281487	C	T	25281487	2	4	88	1	0	0	0	0	0	0	0	1	1126	747	26	2		2	ATP12A	13	25281487	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12906	25281487	89888391	13573	21285											
RNF17	56163	broad.mit.edu	37	chr13	25338442	25338442	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctgaaatccagtgcaccaGgtgtggaaggagggtatcca	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25338442G>T	ENST00000255324.5	+	1	153	c.101G>T	c.(100-102)aGg>aTg	p.R34M	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.R34M|RNF17_ENST00000255325.6_Missense_Mutation_p.R34M	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	34					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAGTGCACCAGGTGTGGAAGG	0.642													False	0	False	13:25338442	0	T	25338442	G	T	25338442	3	4	88	1	0	0	0	0	1	0	0	0	13540	1000	35	3	103	3	RNF17	13	25338442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56955	25338442	89831436	13574	21286											
RNF17	56163	broad.mit.edu	37	chr13	25418028	25418028	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcactttataataaggAattgcctgtgcatatctgta	7	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25418028A>C	ENST00000255324.5	+	20	2802	c.2750A>C	c.(2749-2751)gAa>gCa	p.E917A	RNF17_ENST00000339524.3_5'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.E917A	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	917					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TATAATAAGGAATTGCCTGTG	0.294													False	0	False	13:25418028	0	C	25418028	A	C	25418028	3	2	88	1	0	0	0	0	1	0	0	0	13540	246	9	4	2828	4	RNF17	13	25418028	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	79586	25418028	89751850	13575	21287											
RNF17	56163	broad.mit.edu	37	chr13	25425606	25425606	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactacaggaaaacaacacaAcatggccattacctgtgaaa	6	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25425606A>C	ENST00000255324.5	+	24	3269	c.3217A>C	c.(3217-3219)Aca>Cca	p.T1073P	RNF17_ENST00000339524.3_Missense_Mutation_p.T125P|RNF17_ENST00000381921.1_Missense_Mutation_p.T1073P	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1073					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAACAACACAACATGGCCATT	0.343													False	0	True	13:25425606	0	C	25425606	A	C	25425606	3	2	88	1	0	0	0	0	1	0	0	0	13540	43	2	4	3311	4	RNF17	13	25425606	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7578	25425606	89744272	13576	21288											
CENPJ	55835	broad.mit.edu	37	chr13	25463468	25463468	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccttgcattggaagaTaatttttcttgtatttttct	5	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25463468T>A	ENST00000381884.4	-	11	3472	c.3287A>T	c.(3286-3288)tAt>tTt	p.Y1096F	CENPJ_ENST00000545981.1_Intron	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1096					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CATTGGAAGATAATTTTTCTT	0.274													False	0	False	13:25463468	0	A	25463468	T	A	25463468	3	1	88	1	0	0	0	0	1	0	0	0	3257	1406	49	5	757	5	CENPJ	13	25463468	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37862	25463468	89706410	13577	21289											
PABPC3	5042	broad.mit.edu	37	chr13	25671076	25671076	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatgaagatgcacagaaagCtgtagatgagatgaatggaa	13	4	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671076C>A	ENST00000281589.3	+	1	777	c.740C>A	c.(739-741)gCt>gAt	p.A247D		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	247	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCACAGAAAGCTGTAGATGAG	0.423													False	0	False	13:25671076	0	A	25671076	C	A	25671076	3	1	88	1	0	0	0	0	1	0	0	0	11433	797	28	3	742	3	PABPC3	13	25671076	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207608	25671076	89498802	13578	21290											
PABPC3	5042	broad.mit.edu	37	chr13	25671625	25671625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgactaagaccaagtcctcGctggactgctcagggtgcca	11	13	1	1	rs150466188	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671625G>A	ENST00000281589.3	+	1	1326	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	430					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCAAGTCCTCGCTGGACTGCT	0.512													False	0	False	13:25671625	0	A	25671625	G	A	25671625	3	1	88	1	0	0	0	0	1	0	0	0	11433	1087	38	1	1291	1	PABPC3	13	25671625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	549	25671625	89498253	13579	21291											
PABPC3	5042	broad.mit.edu	37	chr13	25671992	25671992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatctgcccctcctcaaaaGcaaaagcaaatgttaggtga	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671992G>T	ENST00000281589.3	+	1	1693	c.1656G>T	c.(1654-1656)aaG>aaT	p.K552N		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	552	PABC.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTCCTCAAAAGCAAAAGCAAA	0.453													False	0	True	13:25671992	0	T	25671992	G	T	25671992	3	4	88	1	0	0	0	0	1	0	0	0	11433	962	34	3	1658	3	PABPC3	13	25671992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367	25671992	89497886	13580	21292											
PABPC3	5042	broad.mit.edu	37	chr13	25672226	25672226	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgctaccggtgttccaacTgtttaaaattgatcagagac	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25672226T>G	ENST00000281589.3	+	1	1927	c.1890T>G	c.(1888-1890)acT>acG	p.T630T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	630					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTGTTCCAACTGTTTAAAATT	0.393													False	0	False	13:25672226	0	G	25672226	T	G	25672226	2	3	88	1	0	0	0	0	0	0	0	1	11433	1567	55	4		4	PABPC3	13	25672226	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234	25672226	89497652	13581	21293											
MTMR6	9107	broad.mit.edu	37	chr13	25831394	25831394	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagaacccagggaacaaacCtgggaagtcctatcccaacc	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25831394C>A	ENST00000381801.5	-	9	1796	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H	MTMR6_ENST00000540661.1_Missense_Mutation_p.Q345H	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	345	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GGGAACAAACCTGGGAAGTCC	0.398													False	0	False	13:25831394	0	A	25831394	C	A	25831394	3	1	88	1	0	0	0	0	1	0	0	0	10014	680	24	3	854	3	MTMR6	13	25831394	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159168	25831394	89338484	13582	21294											
NUPL1	9818	broad.mit.edu	37	chr13	25912815	25912815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggatgcagcaccacagggGcctccacatttggatttgga	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25912815G>A	ENST00000381736.3	+	15	1826	c.1576G>A	c.(1576-1578)Gcc>Acc	p.A526T	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.A514T	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	526	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CACCACAGGGGCCTCCACATT	0.403													False	0	True	13:25912815	0	A	25912815	G	A	25912815	3	1	88	1	0	0	0	0	1	0	0	0	10842	1203	42	2	1634	2	NUPL1	13	25912815	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81421	25912815	89257063	13583	21295											
ATP8A2	51761	broad.mit.edu	37	chr13	26535801	26535801	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatgtggcatggagagCgtaagtttaacagtgaagcg	15	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26535801C>T	ENST00000381655.2	+	34	3414	c.3272C>T	c.(3271-3273)gCa>gTa	p.A1091V	ATP8A2_ENST00000255283.8_Splice_Site_p.A1026V	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1051					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCATGGAGAGCGTAAGTTTAA	0.473													False	0	False	13:26535801	0	T	26535801	C	T	26535801	5	4	88	1	0	0	0	0	0	0	1	0	1197	782	27	1	3406	1	ATP8A2	13	26535801	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	622986	26535801	88634077	13584	21296											
RNF6	6049	broad.mit.edu	37	chr13	26788516	26788516	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaagttctgactcagaAtcggcctccattagagaact	8	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26788516A>C	ENST00000381588.4	-	5	2255	c.1503T>G	c.(1501-1503)gaT>gaG	p.D501E	RNF6_ENST00000399762.2_Missense_Mutation_p.D145E|RNF6_ENST00000346166.3_Missense_Mutation_p.D501E|RNF6_ENST00000381570.3_Missense_Mutation_p.D501E|RNF6_ENST00000468480.1_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	501					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTGACTCAGAATCGGCCTCCA	0.458													False	0	False	13:26788516	0	C	26788516	A	C	26788516	3	2	88	1	0	0	0	0	1	0	0	0	13577	98	4	4	558	4	RNF6	13	26788516	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	252715	26788516	88381362	13585	21297											
CDK8	1024	broad.mit.edu	37	chr13	26828901	26828901	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctacaaagccaagaggaaAgatgggtgagtgtgtgtgtc	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26828901A>C	ENST00000381527.3	+	1	626	c.123A>C	c.(121-123)aaA>aaC	p.K41N	CDK8_ENST00000536792.1_Missense_Mutation_p.K41N	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	41	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CCAAGAGGAAAGATGGGTGAG	0.667													False	0	True	13:26828901	0	C	26828901	A	C	26828901	3	2	88	1	0	0	0	0	1	0	0	0	3173	69	3	4	125	4	CDK8	13	26828901	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40385	26828901	88340977	13586	21298											
CDK8	1024	broad.mit.edu	37	chr13	26923286	26923286	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctgataggaaggtgtgGcttctgtttgactatgctga	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26923286G>A	ENST00000381527.3	+	3	785	c.282G>A	c.(280-282)tgG>tgA	p.W94*	CDK8_ENST00000536792.1_Nonsense_Mutation_p.W94*	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	94	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GGAAGGTGTGGCTTCTGTTTG	0.413													False	0	False	13:26923286	0	A	26923286	G	A	26923286	4	1	88	1	0	0	0	0	0	1	0	0	3173	1212	42	2	292	2	CDK8	13	26923286	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94385	26923286	88246592	13587	21299											
CDK8	1024	broad.mit.edu	37	chr13	26923313	26923313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgactatgctgaacatgaCctctgggtaaggtgaattgc	11	7	1	4	rs67269290		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26923313C>T	ENST00000381527.3	+	3	812	c.309C>T	c.(307-309)gaC>gaT	p.D103D	CDK8_ENST00000536792.1_Silent_p.D103D	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	103	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CTGAACATGACCTCTGGGTAA	0.413													False	0	False	13:26923313	0	T	26923313	C	T	26923313	2	4	88	1	0	0	0	0	0	0	0	1	3173	506	18	2		2	CDK8	13	26923313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	26923313	88246565	13588	21300											
WASF3	10810	broad.mit.edu	37	chr13	27255212	27255212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacatgcatcggacgttacGgattactcttacccggctac	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27255212G>A	ENST00000361042.4	+	8	954	c.729G>A	c.(727-729)acG>acA	p.T243T	WASF3_ENST00000335327.5_Silent_p.T246T			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	246					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CGGACGTTACGGATTACTCTT	0.498													False	0	False	13:27255212	0	A	27255212	G	A	27255212	2	1	88	1	0	0	0	0	0	0	0	1	17338	1103	39	1		1	WASF3	13	27255212	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331899	27255212	87914666	13589	21301											
GPR12	0	broad.mit.edu	37	chr13	27333552	27333552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagtacagtgagaggtagCggtcaacagtgatagccagc	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27333552C>T	ENST00000405846.3	-	2	634	c.413G>A	c.(412-414)cGc>cAc	p.R138H	GPR12_ENST00000381436.2_Missense_Mutation_p.R138H	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	138						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGAGAGGTAGCGGTCAACAGT	0.552													False	0	False	13:27333552	0	T	27333552	C	T	27333552	3	4	88	1	0	0	0	0	1	0	0	0	6681	768	27	1	595	1	GPR12	13	27333552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78340	27333552	87836326	13590	21302											
GPR12	0	broad.mit.edu	37	chr13	27333952	27333952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcttaaattgaccttcaGgtcttcattcattttaaccc	4	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27333952G>A	ENST00000405846.3	-	2	234	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	GPR12_ENST00000381436.2_Silent_p.L5L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	5						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TTGACCTTCAGGTCTTCATTC	0.478													False	0	False	13:27333952	0	A	27333952	G	A	27333952	2	1	88	1	0	0	0	0	0	0	0	1	6681	991	35	2		2	GPR12	13	27333952	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	400	27333952	87835926	13591	21303											
USP12	219333	broad.mit.edu	37	chr13	27643438	27643438	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctcagtcccgagactgataGaaaaggatgtaaccagactc	9	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27643438G>T	ENST00000282344.6	-	9	1351	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	365					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GAGACTGATAGAAAAGGATGT	0.398													False	0	True	13:27643438	0	T	27643438	G	T	27643438	3	4	88	1	0	0	0	0	1	0	0	0	17127	933	33	3	21	3	USP12	13	27643438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	309486	27643438	87526440	13592	21304											
USP12	219333	broad.mit.edu	37	chr13	27645271	27645271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaactattgcaatataatgGcctcgattgggaccactaaa	7	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27645271G>A	ENST00000282344.6	-	8	1204	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	316					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CAATATAATGGCCTCGATTGG	0.274													False	0	False	13:27645271	0	A	27645271	G	A	27645271	2	1	88	1	0	0	0	0	0	0	0	1	17127	1190	42	2		2	USP12	13	27645271	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1833	27645271	87524607	13593	21305											
RPL21	6144	broad.mit.edu	37	chr13	27829420	27829420	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgccccacaagtgttaCcatggcaaaactggaagagt	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27829420C>T	ENST00000311549.6	+	4	460	c.171C>T	c.(169-171)taC>taT	p.Y57Y	RPL21_ENST00000326092.4_Silent_p.Y57Y|RPL21_ENST00000319826.4_Silent_p.Y57Y|RPL21_ENST00000272274.4_Silent_p.Y57Y	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	57					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		ACAAGTGTTACCATGGCAAAA	0.378													False	0	False	13:27829420	0	T	27829420	C	T	27829420	2	4	88	1	0	0	0	0	0	0	0	1	13646	518	18	2		2	RPL21	13	27829420	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184149	27829420	87340458	13594	21306											
GTF3A	2971	broad.mit.edu	37	chr13	28009581	28009581	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaaggtcaaaaaatcTcgtgaaaaacggagtttggc	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28009581T>C	ENST00000381140.4	+	9	1139	c.945T>C	c.(943-945)tcT>tcC	p.S315S	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088	Q92664	TF3A_HUMAN	general transcription factor IIIA	315					regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		TCAAAAAATCTCGTGAAAAAC	0.393													False	0	False	13:28009581	0	C	28009581	T	C	28009581	2	2	88	1	0	0	0	0	0	0	0	1	6918	1538	54	4		4	GTF3A	13	28009581	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	180161	28009581	87160297	13595	21307											
PDX1	3651	broad.mit.edu	37	chr13	28498408	28498408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggcggcgcctacgctgCggagccggaggagaacaagc	17	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28498408C>T	ENST00000381033.4	+	2	541	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	141					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GCCTACGCTGCGGAGCCGGAG	0.687													False	0	False	13:28498408	0	T	28498408	C	T	28498408	3	4	88	1	0	0	0	0	1	0	0	0	11763	768	27	1	428	1	PDX1	13	28498408	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	488827	28498408	86671470	13596	21308											
FLT3	2322	broad.mit.edu	37	chr13	28602336	28602336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacagtgtgcacgcccccaGcaggttcacaatattctcgt	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28602336G>T	ENST00000380982.4	-	16	2113	c.2032C>A	c.(2032-2034)Ctg>Atg	p.L678M	FLT3_ENST00000241453.7_Missense_Mutation_p.L678M|FLT3_ENST00000537084.1_Missense_Mutation_p.L678M			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	678	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CACGCCCCCAGCAGGTTCACA	0.473			"Mis, O"		"AML, ALL"								False	0	False	13:28602336	0	T	28602336	G	T	28602336	3	4	88	1	0	0	0	0	1	0	0	0	5982	962	34	3	985	3	FLT3	13	28602336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103928	28602336	86567542	13597	21309											
FLT3	2322	broad.mit.edu	37	chr13	28609635	28609635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagaacaactgttgtacctgGagagtttaaaaggatcgtct	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28609635G>A	ENST00000380982.4	-	12	1675	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	FLT3_ENST00000241453.7_Missense_Mutation_p.P532S|FLT3_ENST00000537084.1_Missense_Mutation_p.P532S			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	532					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTTGTACCTGGAGAGTTTAAA	0.438			"Mis, O"		"AML, ALL"								False	0	False	13:28609635	0	A	28609635	G	A	28609635	3	1	88	1	0	0	0	0	1	0	0	0	5982	1174	41	2	1439	2	FLT3	13	28609635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7299	28609635	86560243	13598	21310											
PAN3	255967	broad.mit.edu	37	chr13	28844994	28844994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaaagattctgataactgGcaaaacaaggtactagcatt	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28844994G>T	ENST00000399613.1	+	12	1412	c.1349G>T	c.(1348-1350)gGc>gTc	p.G450V	PAN3_ENST00000380958.3_Missense_Mutation_p.G650V|PAN3_ENST00000282391.5_Missense_Mutation_p.G338V			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	650	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTGATAACTGGCAAAACAAGG	0.363													False	0	False	13:28844994	0	T	28844994	G	T	28844994	3	4	88	1	0	0	0	0	1	0	0	0	11483	1203	42	3	1999	3	PAN3	13	28844994	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235359	28844994	86324884	13599	21311											
FLT1	2321	broad.mit.edu	37	chr13	28901672	28901672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catatttgcagtattcaacaAtcaccatcagaggccctgca	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28901672A>C	ENST00000282397.4	-	20	2974	c.2723T>G	c.(2722-2724)aTt>aGt	p.I908S	FLT1_ENST00000540678.1_Missense_Mutation_p.I126S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	908	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTATTCAACAATCACCATCAG	0.458													False	0	False	13:28901672	0	C	28901672	A	C	28901672	3	2	88	1	0	0	0	0	1	0	0	0	5981	101	4	4	1337	4	FLT1	13	28901672	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56678	28901672	86268206	13600	21312											
FLT1	2321	broad.mit.edu	37	chr13	28964088	28964088	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggccattttttgcttgCtaatactgtagtgcattgtt	9	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28964088C>T	ENST00000282397.4	-	13	2065	c.1814G>A	c.(1813-1815)aGc>aAc	p.S605N	FLT1_ENST00000541932.1_Missense_Mutation_p.S605N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	605	Ig-like C2-type 6.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTTTTGCTTGCTAATACTGTA	0.418													False	0	True	13:28964088	0	T	28964088	C	T	28964088	3	4	88	1	0	0	0	0	1	0	0	0	5981	797	28	2	2459	2	FLT1	13	28964088	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62416	28964088	86205790	13601	21313											
SLC46A3	283537	broad.mit.edu	37	chr13	29287142	29287142	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcattcttaaaaagcatgtaAgttcggtaaaataggttttt	8	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29287142A>G	ENST00000266943.6	-	3	1104	c.735T>C	c.(733-735)acT>acC	p.T245T	SLC46A3_ENST00000380814.4_Silent_p.T245T	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	245					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAAGCATGTAAGTTCGGTAAA	0.333													False	0	False	13:29287142	0	G	29287142	A	G	29287142	2	3	88	1	0	0	0	0	0	0	0	1	14726	59	3	4		4	SLC46A3	13	29287142	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	323054	29287142	85882736	13602	21314											
SLC46A3	283537	broad.mit.edu	37	chr13	29287292	29287292	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attagaaacgaccactcaaaAcctagctctctaataaaata	3	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29287292A>G	ENST00000266943.6	-	3	954	c.585T>C	c.(583-585)ggT>ggC	p.G195G	SLC46A3_ENST00000380814.4_Silent_p.G195G	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	195					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ACCACTCAAAACCTAGCTCTC	0.348													False	0	True	13:29287292	0	G	29287292	A	G	29287292	2	3	88	1	0	0	0	0	0	0	0	1	14726	30	2	4		4	SLC46A3	13	29287292	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150	29287292	85882586	13603	21315											
MTUS2	23281	broad.mit.edu	37	chr13	29599490	29599490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggggaggggccacagaagAcattgccagaccacgctgtc	15	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29599490A>G	ENST00000431530.3	+	1	743	c.685A>G	c.(685-687)Aca>Gca	p.T229A		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	219						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCCACAGAAGACATTGCCAGA	0.592													False	0	False	13:29599490	0	G	29599490	A	G	29599490	3	3	88	1	0	0	0	0	1	0	0	0	10033	275	10	4	687	4	MTUS2	13	29599490	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	312198	29599490	85570388	13604	21316											
SLC7A1	6541	broad.mit.edu	37	chr13	30104741	30104741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagctgccagtttttaaccGatcctttcacaaatcctgac	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30104741G>A	ENST00000380752.5	-	5	1024	c.638C>T	c.(637-639)tCg>tTg	p.S213L		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	213					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTTTTTAACCGATCCTTTCAC	0.448													False	0	False	13:30104741	0	A	30104741	G	A	30104741	3	1	88	1	0	0	0	0	1	0	0	0	14772	1059	37	1	1287	1	SLC7A1	13	30104741	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	505251	30104741	85065137	13605	21317											
UBL3	5412	broad.mit.edu	37	chr13	30341410	30341410	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttacaggattacacaacaAttactctctccagtcttctc	4	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30341410A>C	ENST00000380680.4	-	5	1481	c.336T>G	c.(334-336)aaT>aaG	p.N112K		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	112						intracellular|plasma membrane				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		TTACACAACAATTACTCTCTC	0.433													False	0	False	13:30341410	0	C	30341410	A	C	30341410	3	2	88	1	0	0	0	0	1	0	0	0	16970	98	4	4	21	4	UBL3	13	30341410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	236669	30341410	84828468	13606	21318											
KATNAL1	84056	broad.mit.edu	37	chr13	30815139	30815139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaatgtctctttcaagggCttccaccagatccttatcat	5	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30815139C>T	ENST00000380615.3	-	5	744	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	KATNAL1_ENST00000380617.3_Missense_Mutation_p.A193T	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	193						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CTTTCAAGGGCTTCCACCAGA	0.383													False	0	True	13:30815139	0	T	30815139	C	T	30815139	3	4	88	1	0	0	0	0	1	0	0	0	8035	797	28	2	923	2	KATNAL1	13	30815139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	473729	30815139	84354739	13607	21319											
USPL1	10208	broad.mit.edu	37	chr13	31205600	31205600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctatataccagtcaattgaGtggtgttaaaggttggtact	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31205600G>T	ENST00000255304.4	+	4	1199	c.857G>T	c.(856-858)aGt>aTt	p.S286I	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	286					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGTCAATTGAGTGGTGTTAAA	0.388													False	0	False	13:31205600	0	T	31205600	G	T	31205600	3	4	88	1	0	0	0	0	1	0	0	0	17176	1029	36	3	867	3	USPL1	13	31205600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	390461	31205600	83964278	13608	21320											
USPL1	10208	broad.mit.edu	37	chr13	31232400	31232400	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctaatttgaagaaaaaagAaactacagcagattctcaaa	5	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31232400A>C	ENST00000255304.4	+	9	2528	c.2186A>C	c.(2185-2187)gAa>gCa	p.E729A		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	729					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAGAAAAAAGAAACTACAGCA	0.363													False	0	True	13:31232400	0	C	31232400	A	C	31232400	3	2	88	1	0	0	0	0	1	0	0	0	17176	246	9	4	2216	4	USPL1	13	31232400	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26800	31232400	83937478	13609	21321											
USPL1	10208	broad.mit.edu	37	chr13	31232733	31232733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtctaatggcacagctgCccacccacatgctcatgctg	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31232733C>T	ENST00000255304.4	+	9	2861	c.2519C>T	c.(2518-2520)gCc>gTc	p.A840V		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	840					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GGCACAGCTGCCCACCCACAT	0.507													False	0	True	13:31232733	0	T	31232733	C	T	31232733	3	4	88	1	0	0	0	0	1	0	0	0	17176	739	26	2	2549	2	USPL1	13	31232733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	333	31232733	83937145	13610	21322											
HSPH1	10808	broad.mit.edu	37	chr13	31724241	31724241	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcacatcttctactttgagAtgagtttgttccaacagtga	7	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31724241A>T	ENST00000320027.5	-	8	1331	c.987T>A	c.(985-987)caT>caA	p.H329Q	HSPH1_ENST00000429785.2_Missense_Mutation_p.H148Q|HSPH1_ENST00000445273.2_Missense_Mutation_p.H331Q|HSPH1_ENST00000380406.5_Missense_Mutation_p.H288Q|HSPH1_ENST00000380405.4_Missense_Mutation_p.H329Q	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	329					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTACTTTGAGATGAGTTTGTT	0.373													False	0	False	13:31724241	0	T	31724241	A	T	31724241	3	4	88	1	0	0	0	0	1	0	0	0	7481	330	12	5	1633	5	HSPH1	13	31724241	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	491508	31724241	83445637	13611	21323											
FRY	10129	broad.mit.edu	37	chr13	32722003	32722003	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataaccatcatcacaacactTttccccaaagggtcccgcgg	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32722003T>G	ENST00000380250.3	+	13	1807	c.1311T>G	c.(1309-1311)ctT>ctG	p.L437L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCACAACACTTTTCCCCAAAG	0.463													False	0	True	13:32722003	0	G	32722003	T	G	32722003	2	3	88	1	0	0	0	0	0	0	0	1	6105	1828	64	4		4	FRY	13	32722003	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	997762	32722003	82447875	13612	21324											
FRY	10129	broad.mit.edu	37	chr13	32745307	32745307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatcacacactccttgattCgtccctgaagttgctgctgc	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32745307C>T	ENST00000380250.3	+	18	2547	c.2051C>T	c.(2050-2052)tCg>tTg	p.S684L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCCTTGATTCGTCCCTGAAG	0.438													False	0	False	13:32745307	0	T	32745307	C	T	32745307	3	4	88	1	0	0	0	0	1	0	0	0	6105	893	31	1	2121	1	FRY	13	32745307	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23304	32745307	82424571	13613	21325											
FRY	10129	broad.mit.edu	37	chr13	32745346	32745346	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgctcacccagtggaAactagtcatccagacacaag	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32745346A>C	ENST00000380250.3	+	18	2586	c.2090A>C	c.(2089-2091)aAa>aCa	p.K697T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	697					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCCAGTGGAAACTAGTCATC	0.418													False	0	True	13:32745346	0	C	32745346	A	C	32745346	3	2	88	1	0	0	0	0	1	0	0	0	6105	14	1	4	2160	4	FRY	13	32745346	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39	32745346	82424532	13614	21326											
FRY	10129	broad.mit.edu	37	chr13	32747543	32747543	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcacagaattcagtcggaaCgaggtccccactgcagtgta	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32747543C>T	ENST00000380250.3	+	19	2687	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCAGTCGGAACGAGGTCCCCA	0.448													False	0	False	13:32747543	0	T	32747543	C	T	32747543	4	4	88	1	0	0	0	0	0	1	0	0	6105	528	19	1	2265	1	FRY	13	32747543	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2197	32747543	82422335	13615	21327											
FRY	10129	broad.mit.edu	37	chr13	32768363	32768363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttaactgggcaattgaCcgatgctacacaggttccta	8	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32768363C>T	ENST00000380250.3	+	29	4171	c.3675C>T	c.(3673-3675)gaC>gaT	p.D1225D		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGGCAATTGACCGATGCTACA	0.428													False	0	False	13:32768363	0	T	32768363	C	T	32768363	2	4	88	1	0	0	0	0	0	0	0	1	6105	506	18	2		2	FRY	13	32768363	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20820	32768363	82401515	13616	21328											
FRY	10129	broad.mit.edu	37	chr13	32783857	32783857	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggtcagcagcgacacagttCtcctaccctatgtaagtgtc	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32783857C>A	ENST00000380250.3	+	33	4907	c.4411C>A	c.(4411-4413)Ctc>Atc	p.L1471I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGACACAGTTCTCCTACCCTA	0.488													False	0	False	13:32783857	0	A	32783857	C	A	32783857	3	1	88	1	0	0	0	0	1	0	0	0	6105	913	32	3	4541	3	FRY	13	32783857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15494	32783857	82386021	13617	21329											
FRY	10129	broad.mit.edu	37	chr13	32852676	32852676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtcaaccaggggactcCgaagaaaaggtaataaaagc	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32852676C>T	ENST00000380250.3	+	58	8956	c.8460C>T	c.(8458-8460)tcC>tcT	p.S2820S	FRY_ENST00000542859.1_Silent_p.S190S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAGGGGACTCCGAAGAAAAGG	0.428													False	0	False	13:32852676	0	T	32852676	C	T	32852676	2	4	88	1	0	0	0	0	0	0	0	1	6105	639	23	1		1	FRY	13	32852676	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68819	32852676	82317202	13618	21330											
BRCA2	675	broad.mit.edu	37	chr13	32906448	32906448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattcatttaaagtaaataGctgcaaagaccacattggaa	7	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32906448G>A	ENST00000544455.1	+	10	1060	c.833G>A	c.(832-834)aGc>aAc	p.S278N	BRCA2_ENST00000380152.3_Missense_Mutation_p.S278N	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	278					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAGTAAATAGCTGCAAAGAC	0.289			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			False	0	False	13:32906448	0	A	32906448	G	A	32906448	3	1	88	1	0	0	0	0	1	0	0	0	1506	971	34	2	867	2	BRCA2	13	32906448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53772	32906448	82263430	13619	21331											
BRCA2	675	broad.mit.edu	37	chr13	32911541	32911541	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcttcaaataaggaaAtcaagctctctgaacataac	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32911541A>T	ENST00000544455.1	+	11	3276	c.3049A>T	c.(3049-3051)Atc>Ttc	p.I1017F	BRCA2_ENST00000380152.3_Missense_Mutation_p.I1017F	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1017					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAATAAGGAAATCAAGCTCTC	0.323			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			False	0	True	13:32911541	0	T	32911541	A	T	32911541	3	4	88	1	0	0	0	0	1	0	0	0	1506	101	4	5	3087	5	BRCA2	13	32911541	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5093	32911541	82258337	13620	21332											
BRCA2	675	broad.mit.edu	37	chr13	32912529	32912529	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgattcaagtaaaaatgataCtgtttgtattcataaagatg	7	3	2	3	rs80359421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32912529C>A	ENST00000544455.1	+	11	4264	c.4037C>A	c.(4036-4038)aCt>aAt	p.T1346N	BRCA2_ENST00000380152.3_Missense_Mutation_p.T1346N	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1346					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAATGATACTGTTTGTATT	0.328			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			False	0	False	13:32912529	0	A	32912529	C	A	32912529	3	1	88	1	0	0	0	0	1	0	0	0	1506	565	20	3	4075	3	BRCA2	13	32912529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	988	32912529	82257349	13621	21333											
BRCA2	675	broad.mit.edu	37	chr13	32913417	32913417	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttaaagtacatgaaaAtgtagaaaaagaaacagcaa	8	3	0	3	rs80358718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32913417A>C	ENST00000544455.1	+	11	5152	c.4925A>C	c.(4924-4926)aAt>aCt	p.N1642T	BRCA2_ENST00000380152.3_Missense_Mutation_p.N1642T	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1642					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTACATGAAAATGTAGAAAAA	0.323			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			False	0	True	13:32913417	0	C	32913417	A	C	32913417	3	2	88	1	0	0	0	0	1	0	0	0	1506	101	4	4	4963	4	BRCA2	13	32913417	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	888	32913417	82256461	13622	21334											
BRCA2	675	broad.mit.edu	37	chr13	32914727	32914727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttacacaaagttaagggaGtgttagaggaatttgattta	10	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32914727G>A	ENST00000544455.1	+	11	6462	c.6235G>A	c.(6235-6237)Gtg>Atg	p.V2079M	BRCA2_ENST00000380152.3_Missense_Mutation_p.V2079M	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2079					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTTAAGGGAGTGTTAGAGGA	0.343			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			False	0	False	13:32914727	0	A	32914727	G	A	32914727	3	1	88	1	0	0	0	0	1	0	0	0	1506	1029	36	2	6273	2	BRCA2	13	32914727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1310	32914727	82255151	13623	21335											
BRCA2	675	broad.mit.edu	37	chr13	32953972	32953972	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatttatcatcttgcaacTtcaaaatctaaaagtaaatc	3	7	4	1	rs80359736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32953972T>C	ENST00000544455.1	+	23	9266	c.9039T>C	c.(9037-9039)acT>acC	p.T3013T	BRCA2_ENST00000380152.3_Silent_p.T3013T	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3013			T -> I (in BC; unknown pathological significance).		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATCTTGCAACTTCAAAATCTA	0.328			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			False	0	False	13:32953972	0	C	32953972	T	C	32953972	2	2	88	1	0	0	0	0	0	0	0	1	1506	1596	56	4		4	BRCA2	13	32953972	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39245	32953972	82215906	13624	21336											
N4BP2L1	90634	broad.mit.edu	37	chr13	32978376	32978376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaccatgtccatttccagCctgaaaagattcttttgttc	5	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32978376C>T	ENST00000380139.4	-	4	479	c.429G>A	c.(427-429)agG>agA	p.R143R	N4BP2L1_ENST00000530622.2_Intron|N4BP2L1_ENST00000459716.1_Intron|N4BP2L1_ENST00000380133.2_Intron|N4BP2L1_ENST00000380130.2_Intron	NM_001079691.1	NP_001073159.1	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	143					cell killing		ATP binding			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CCATTTCCAGCCTGAAAAGAT	0.348													False	0	False	13:32978376	0	T	32978376	C	T	32978376	2	4	88	1	0	0	0	0	0	0	0	1	10178	738	26	2		2	N4BP2L1	13	32978376	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24404	32978376	82191502	13625	21337											
N4BP2L2	10443	broad.mit.edu	37	chr13	33016813	33016813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctactcttgtctgagattCgaaagtcaaaaacagtttct	6	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33016813C>T	ENST00000357505.6	-	7	1920	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	N4BP2L2_ENST00000504114.1_Missense_Mutation_p.E606K|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.E621K	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTCTGAGATTCGAAAGTCAAA	0.323													False	0	False	13:33016813	0	T	33016813	C	T	33016813	3	4	88	1	0	0	0	0	1	0	0	0	10179	893	31	1	409	1	N4BP2L2	13	33016813	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38437	33016813	82153065	13626	21338											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017510	33017510	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttatgaggtcctgcaggCcagctaccaaaatagggctg	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33017510C>T	ENST00000357505.6	-	7	1223	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*	N4BP2L2_ENST00000504114.1_Nonsense_Mutation_p.W373*|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Nonsense_Mutation_p.W388*	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTCCTGCAGGCCAGCTACCAA	0.423													False	0	False	13:33017510	0	T	33017510	C	T	33017510	4	4	88	1	0	0	0	0	0	1	0	0	10179	740	26	2	1106	2	N4BP2L2	13	33017510	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	697	33017510	82152368	13627	21339											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017909	33017909	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaacaagttatcaccttcCttagagaggtaattctttgg	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33017909C>A	ENST00000357505.6	-	7	824	c.720G>T	c.(718-720)aaG>aaT	p.K240N	N4BP2L2_ENST00000504114.1_Missense_Mutation_p.K240N|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.K255N	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TATCACCTTCCTTAGAGAGGT	0.338													False	0	True	13:33017909	0	A	33017909	C	A	33017909	3	1	88	1	0	0	0	0	1	0	0	0	10179	680	24	3	1505	3	N4BP2L2	13	33017909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399	33017909	82151969	13628	21340											
PDS5B	23047	broad.mit.edu	37	chr13	33281111	33281111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaaatcaatagatggaacaGcagatgatgaagatgagggt	12	4	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33281111G>T	ENST00000315596.10	+	18	2083	c.1897G>T	c.(1897-1899)Gca>Tca	p.A633S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	633					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGATGGAACAGCAGATGATGA	0.323													False	0	False	13:33281111	0	T	33281111	G	T	33281111	3	4	88	1	0	0	0	0	1	0	0	0	11760	971	34	3	1963	3	PDS5B	13	33281111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263202	33281111	81888767	13629	21341											
KL	9365	broad.mit.edu	37	chr13	33591381	33591381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctcgggtacctggtggCgcacaacctcctcctggtga	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33591381C>T	ENST00000380099.3	+	1	811	c.803C>T	c.(802-804)gCg>gTg	p.A268V	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	268	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TACCTGGTGGCGCACAACCTC	0.716													False	0	False	13:33591381	0	T	33591381	C	T	33591381	3	4	88	1	0	0	0	0	1	0	0	0	8381	768	27	1	805	1	KL	13	33591381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	310270	33591381	81578497	13630	21342											
KL	9365	broad.mit.edu	37	chr13	33635273	33635273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgtcaagctttggataaCgatgaatgagccgtatacaa	9	8	2	2	rs141695559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33635273C>T	ENST00000380099.3	+	4	2065	c.2057C>T	c.(2056-2058)aCg>aTg	p.T686M	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	686	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTTTGGATAACGATGAATGAG	0.527													False	0	False	13:33635273	0	T	33635273	C	T	33635273	3	4	88	1	0	0	0	0	1	0	0	0	8381	536	19	1	2071	1	KL	13	33635273	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43892	33635273	81534605	13631	21343											
NBEA	26960	broad.mit.edu	37	chr13	35615281	35615281	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtattgctgaaaatgagtgCtgtagatgacatgatagcag	12	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35615281C>A	ENST00000400445.3	+	2	1040	c.506C>A	c.(505-507)gCt>gAt	p.A169D	NBEA_ENST00000379939.2_Missense_Mutation_p.A169D|NBEA_ENST00000310336.4_Missense_Mutation_p.A169D|NBEA_ENST00000540320.1_Missense_Mutation_p.A169D	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	169						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAAATGAGTGCTGTAGATGAC	0.348													False	0	False	13:35615281	0	A	35615281	C	A	35615281	3	1	88	1	0	0	0	0	1	0	0	0	10254	797	28	3	512	3	NBEA	13	35615281	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1980008	35615281	79554597	13632	21344											
NBEA	26960	broad.mit.edu	37	chr13	35630181	35630181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattgtccacatttacaatcGatggaggaacagtgaaattc	8	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35630181G>A	ENST00000400445.3	+	7	1541	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	NBEA_ENST00000379939.2_Missense_Mutation_p.R336Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R336Q|NBEA_ENST00000540320.1_Missense_Mutation_p.R336Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	336						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTTACAATCGATGGAGGAAC	0.308													False	0	False	13:35630181	0	A	35630181	G	A	35630181	3	1	88	1	0	0	0	0	1	0	0	0	10254	1058	37	1	1033	1	NBEA	13	35630181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14900	35630181	79539697	13633	21345											
MAB21L1	4081	broad.mit.edu	37	chr13	36049526	36049526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggttttgaggatggagagGcacttctttctgcagccccc	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36049526G>A	ENST00000379919.4	-	1	1306	c.750C>T	c.(748-750)tgC>tgT	p.C250C	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	250					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GGATGGAGAGGCACTTCTTTC	0.567													False	0	False	13:36049526	0	A	36049526	G	A	36049526	2	1	88	1	0	0	0	0	0	0	0	1	9204	1195	42	2		2	MAB21L1	13	36049526	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	419345	36049526	79120352	13634	21346											
MAB21L1	4081	broad.mit.edu	37	chr13	36049967	36049967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctcctcttgcgcccgtcGctcaacttcagcaccgcgca	8	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36049967G>A	ENST00000379919.4	-	1	865	c.309C>T	c.(307-309)agC>agT	p.S103S	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	103					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TGCGCCCGTCGCTCAACTTCA	0.592													False	0	False	13:36049967	0	A	36049967	G	A	36049967	2	1	88	1	0	0	0	0	0	0	0	1	9204	1078	38	1		1	MAB21L1	13	36049967	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	441	36049967	79119911	13635	21347											
MAB21L1	4081	broad.mit.edu	37	chr13	36050059	36050059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataaagcaccacttcaaattCggtgggggagatgacctcga	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36050059C>T	ENST00000379919.4	-	1	773	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	73					anatomical structure morphogenesis	nucleus		p.E73K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ACTTCAAATTCGGTGGGGGAG	0.577													False	0	False	13:36050059	0	T	36050059	C	T	36050059	3	4	88	1	0	0	0	0	1	0	0	0	9204	893	31	1	866	1	MAB21L1	13	36050059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	36050059	79119819	13636	21348											
MAB21L1	4081	broad.mit.edu	37	chr13	36050193	36050193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacttcccggatagttttgGcaatggcagctttcctggct	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36050193G>A	ENST00000379919.4	-	1	639	c.83C>T	c.(82-84)gCc>gTc	p.A28V	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	28					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GATAGTTTTGGCAATGGCAGC	0.507													False	0	False	13:36050193	0	A	36050193	G	A	36050193	3	1	88	1	0	0	0	0	1	0	0	0	9204	1203	42	2	1000	2	MAB21L1	13	36050193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134	36050193	79119685	13637	21349											
NBEA	26960	broad.mit.edu	37	chr13	36220438	36220438	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actttggacagacgccatctCagttgcttattgagccacat	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36220438C>T	ENST00000400445.3	+	50	8194	c.7660C>T	c.(7660-7662)Cag>Tag	p.Q2554*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q2551*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.Q347*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.Q2554*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.Q132*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2554	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GACGCCATCTCAGTTGCTTAT	0.468													False	0	False	13:36220438	0	T	36220438	C	T	36220438	4	4	88	1	0	0	0	0	0	1	0	0	10254	827	29	2	7858	2	NBEA	13	36220438	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170245	36220438	78949440	13638	21350											
DCLK1	9201	broad.mit.edu	37	chr13	36367610	36367610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttcattttctgggaggcCatcatcctggagaaaaagaa	10	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36367610C>T	ENST00000255448.4	-	16	2162	c.1951G>A	c.(1951-1953)Ggc>Agc	p.G651S	DCLK1_ENST00000360631.3_Missense_Mutation_p.G651S|DCLK1_ENST00000379893.1_Missense_Mutation_p.G344S	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	651					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(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)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTGGGAGGCCATCATCCTGG	0.398													False	0	False	13:36367610	0	T	36367610	C	T	36367610	3	4	88	1	0	0	0	0	1	0	0	0	4316	594	21	2	250	2	DCLK1	13	36367610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147172	36367610	78802268	13639	21351											
DCLK1	9201	broad.mit.edu	37	chr13	36424911	36424911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagagagggggcggtacagGtcctgcaagatgaagggcag	19	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36424911G>A	ENST00000379892.4	-	7	1249	c.1038C>T	c.(1036-1038)gaC>gaT	p.D346D	DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000360631.3_Intron|DCLK1_ENST00000379893.1_Intron|DCLK1_ENST00000255448.4_Intron			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	346					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(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)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGCGGTACAGGTCCTGCAAGA	0.483													False	0	False	13:36424911	0	A	36424911	G	A	36424911	2	1	88	1	0	0	0	0	0	0	0	1	4316	1276	44	2		2	DCLK1	13	36424911	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57301	36424911	78744967	13640	21352											
DCLK1	9201	broad.mit.edu	37	chr13	36686021	36686021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacctgtttcccatccaaCgtgtacaggcgtttcaccac	6	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36686021C>T	ENST00000255448.4	-	3	919	c.708G>A	c.(706-708)acG>acA	p.T236T	DCLK1_ENST00000379892.4_Silent_p.T236T|DCLK1_ENST00000360631.3_Silent_p.T236T	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	236	Doublecortin 2.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(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)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCCCATCCAACGTGTACAGGC	0.483													False	0	False	13:36686021	0	T	36686021	C	T	36686021	2	4	88	1	0	0	0	0	0	0	0	1	4316	523	19	1		1	DCLK1	13	36686021	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261110	36686021	78483857	13641	21353											
DCLK1	9201	broad.mit.edu	37	chr13	36686204	36686204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatccttattctctcgcacCtctgaagggcttcctttggc	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36686204C>T	ENST00000255448.4	-	3	736	c.525G>A	c.(523-525)gaG>gaA	p.E175E	DCLK1_ENST00000379892.4_Silent_p.E175E|DCLK1_ENST00000360631.3_Silent_p.E175E	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	175					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(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)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTCTCGCACCTCTGAAGGGC	0.527													False	0	False	13:36686204	0	T	36686204	C	T	36686204	2	4	88	1	0	0	0	0	0	0	0	1	4316	680	24	2		2	DCLK1	13	36686204	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	183	36686204	78483674	13642	21354											
DCLK1	9201	broad.mit.edu	37	chr13	36700099	36700099	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtttcgatagaaacgaActttcttggccttcttctcg	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36700099A>G	ENST00000255448.4	-	2	387	c.176T>C	c.(175-177)gTt>gCt	p.V59A	DCLK1_ENST00000379892.4_Missense_Mutation_p.V59A|DCLK1_ENST00000360631.3_Missense_Mutation_p.V59A	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	59	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(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)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATAGAAACGAACTTTCTTGGC	0.582													False	0	False	13:36700099	0	G	36700099	A	G	36700099	3	3	88	1	0	0	0	0	1	0	0	0	4316	43	2	4	2081	4	DCLK1	13	36700099	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13895	36700099	78469779	13643	21355											
SPG20	23111	broad.mit.edu	37	chr13	36878678	36878678	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcaccattgctttgaTaccaatgttgttaatattgt	5	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36878678T>C	ENST00000451493.1	-	9	2042	c.1825A>G	c.(1825-1827)Atc>Gtc	p.I609V	SPG20_ENST00000494062.2_Missense_Mutation_p.I609V|SPG20_ENST00000438666.2_Missense_Mutation_p.I609V|SPG20_ENST00000355182.4_Missense_Mutation_p.I609V	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	609					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ATTGCTTTGATACCAATGTTG	0.418													False	0	False	13:36878678	0	C	36878678	T	C	36878678	3	2	88	1	0	0	0	0	1	0	0	0	15124	1406	49	4	179	4	SPG20	13	36878678	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	178579	36878678	78291200	13644	21356											
SPG20	23111	broad.mit.edu	37	chr13	36878745	36878745	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatccaccgcatggtgggtAgcttctcctgcattatatcc	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36878745A>G	ENST00000451493.1	-	9	1975	c.1758T>C	c.(1756-1758)gcT>gcC	p.A586A	SPG20_ENST00000494062.2_Silent_p.A586A|SPG20_ENST00000438666.2_Silent_p.A586A|SPG20_ENST00000355182.4_Silent_p.A586A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	586					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CATGGTGGGTAGCTTCTCCTG	0.343													False	0	False	13:36878745	0	G	36878745	A	G	36878745	2	3	88	1	0	0	0	0	0	0	0	1	15124	407	15	4		4	SPG20	13	36878745	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67	36878745	78291133	13645	21357											
SPG20	23111	broad.mit.edu	37	chr13	36900795	36900795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactggctcacatggtacaAtgtgactcaggttaacttct	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36900795A>G	ENST00000451493.1	-	5	1422	c.1205T>C	c.(1204-1206)aTt>aCt	p.I402T	SPG20_ENST00000494062.2_Missense_Mutation_p.I402T|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.I402T|SPG20_ENST00000355182.4_Missense_Mutation_p.I402T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	402					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ACATGGTACAATGTGACTCAG	0.358													False	0	False	13:36900795	0	G	36900795	A	G	36900795	3	3	88	1	0	0	0	0	1	0	0	0	15124	101	4	4	815	4	SPG20	13	36900795	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22050	36900795	78269083	13646	21358											
SPG20	23111	broad.mit.edu	37	chr13	36905734	36905734	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggatataaccagtcacaaacCtgaaaggattcattagaaga	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36905734C>A	ENST00000451493.1	-	3	1028		c.e3-1		SPG20_ENST00000494062.2_Splice_Site|SPG20_ENST00000495510.1_Splice_Site|SPG20_ENST00000438666.2_Splice_Site|SPG20_ENST00000355182.4_Splice_Site	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)						cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AGTCACAAACCTGAAAGGATT	0.313													False	0	False	13:36905734	0	A	36905734	C	A	36905734	5	1	88	1	0	0	0	0	0	0	1	0	15124	695	24	3	1218	3	SPG20	13	36905734	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4939	36905734	78264144	13647	21359											
CCNA1	8900	broad.mit.edu	37	chr13	37012230	37012230	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctatgctggtagattcatctCtcctctcccagtctgaagat	7	12	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37012230C>A	ENST00000418263.1	+	4	918	c.568C>A	c.(568-570)Ctc>Atc	p.L190I	CCNA1_ENST00000449823.1_Missense_Mutation_p.L147I|CCNA1_ENST00000255465.4_Missense_Mutation_p.L191I|CCNA1_ENST00000440264.1_Missense_Mutation_p.L147I	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	191					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGATTCATCTCTCCTCTCCCA	0.393													False	0	True	13:37012230	0	A	37012230	C	A	37012230	3	1	88	1	0	0	0	0	1	0	0	0	2932	913	32	3	585	3	CCNA1	13	37012230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106496	37012230	78157648	13648	21360											
CCNA1	8900	broad.mit.edu	37	chr13	37014291	37014291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtacttgaggcgacaaggaGtgtgcgtcaggactgagaac	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37014291G>A	ENST00000418263.1	+	6	1416	c.1066G>A	c.(1066-1068)Gtg>Atg	p.V356M	CCNA1_ENST00000449823.1_Missense_Mutation_p.V313M|CCNA1_ENST00000255465.4_Missense_Mutation_p.V357M|CCNA1_ENST00000440264.1_Missense_Mutation_p.V313M	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	357					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GCGACAAGGAGTGTGCGTCAG	0.458													False	0	False	13:37014291	0	A	37014291	G	A	37014291	3	1	88	1	0	0	0	0	1	0	0	0	2932	1029	36	2	1091	2	CCNA1	13	37014291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2061	37014291	78155587	13649	21361											
SMAD9	4093	broad.mit.edu	37	chr13	37447026	37447026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggttatattcactgtGtcttggcacgagcacaggag	14	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37447026G>A	ENST00000379826.4	-	3	781	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	SMAD9_ENST00000399275.2_Missense_Mutation_p.H147Y|SMAD9_ENST00000350148.5_Missense_Mutation_p.H147Y	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	147					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATTCACTGTGTCTTGGCACG	0.527													False	0	False	13:37447026	0	A	37447026	G	A	37447026	3	1	88	1	0	0	0	0	1	0	0	0	14844	1377	48	2	984	2	SMAD9	13	37447026	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432735	37447026	77722852	13650	21362											
SMAD9	4093	broad.mit.edu	37	chr13	37453838	37453838	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgcataagaggccacaGcaggctccggcgcgcacggg	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37453838G>T	ENST00000379826.4	-	0	331				SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000399275.2_De_novo_Start_InFrame|SMAD9_ENST00000350148.5_De_novo_Start_InFrame	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9						BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGAGGCCACAGCAGGCTCCGG	0.627													False	0	False	13:37453838	0	T	37453838	G	T	37453838	1	4	88	1	0	0	0	0	0	0	0	0	14844	986	34	3		3	SMAD9	13	37453838	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6812	37453838	77716040	13651	21363											
ALG5	29880	broad.mit.edu	37	chr13	37573380	37573380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgttctcaccagtacgaGggctgcggccgccagcgccg	13	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37573380G>A	ENST00000239891.3	-	1	124	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	EXOSC8_ENST00000489088.1_Intron|ALG5_ENST00000413537.2_Missense_Mutation_p.L20F|ALG5_ENST00000496689.1_Intron|ALG5_ENST00000443765.1_Missense_Mutation_p.L20F	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	20					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		ACCAGTACGAGGGCTGCGGCC	0.701													False	0	True	13:37573380	0	A	37573380	G	A	37573380	3	1	88	1	0	0	0	0	1	0	0	0	521	1000	35	2	956	2	ALG5	13	37573380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119542	37573380	77596498	13652	21364											
EXOSC8	11340	broad.mit.edu	37	chr13	37582916	37582916	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggaggaacatctggcaacagGaaccttaacaatagtaatgg	11	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37582916G>T	ENST00000389704.3	+	10	924	c.659G>T	c.(658-660)gGa>gTa	p.G220V		NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	220					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CTGGCAACAGGAACCTTAACA	0.378													False	0	False	13:37582916	0	T	37582916	G	T	37582916	3	4	88	1	0	0	0	0	1	0	0	0	5353	1174	41	3	697	3	EXOSC8	13	37582916	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9536	37582916	77586962	13653	21365											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37678964	37678964	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtgacgcccagtacccaTcaggaagttatctggtttaa	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37678964T>C	ENST00000379800.3	-	1	839	c.430A>G	c.(430-432)Atg>Gtg	p.M144V		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	144	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCAGTACCCATCAGGAAGTTA	0.408													False	0	False	13:37678964	0	C	37678964	T	C	37678964	3	2	88	1	0	0	0	0	1	0	0	0	3976	1435	50	4	587	4	CSNK1A1L	13	37678964	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96048	37678964	77490914	13654	21366											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37679320	37679320	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaacgtctccaaaggagccaGacccgatcttccgcaccagt	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37679320G>A	ENST00000379800.3	-	1	483	c.74C>T	c.(73-75)tCt>tTt	p.S25F		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	25	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AAAGGAGCCAGACCCGATCTT	0.557													False	0	False	13:37679320	0	A	37679320	G	A	37679320	3	1	88	1	0	0	0	0	1	0	0	0	3976	942	33	2	943	2	CSNK1A1L	13	37679320	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	356	37679320	77490558	13655	21367											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37679424	37679424	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagatggaggctgggctcaGccctgacccctctaggggag	15	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37679424G>T	ENST00000379800.3	-	0	379					NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like						Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GCTGGGCTCAGCCCTGACCCC	0.622													False	0	True	13:37679424	0	T	37679424	G	T	37679424	1	4	88	1	0	0	0	0	0	0	0	0	3976	986	34	3		3	CSNK1A1L	13	37679424	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104	37679424	77490454	13656	21368											
POSTN	10631	broad.mit.edu	37	chr13	38138654	38138654	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttactatagccaatacacttAccttgaacttttttgttggc	5	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38138654A>G	ENST00000379747.4	-	22	2591		c.e22+1		POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000541179.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CAATACACTTACCTTGAACTT	0.318													False	0	False	13:38138654	0	G	38138654	A	G	38138654	5	3	88	1	0	0	0	0	0	0	1	0	12328	405	14	4	43	4	POSTN	13	38138654	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	459230	38138654	77031224	13657	21369											
POSTN	10631	broad.mit.edu	37	chr13	38154704	38154704	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaataggcttacctaaagCgcttatcttgttttaacttt	5	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38154704C>T	ENST00000379747.4	-	11	1640	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	POSTN_ENST00000379742.4_Missense_Mutation_p.R508H|POSTN_ENST00000379743.4_Missense_Mutation_p.R508H|POSTN_ENST00000379749.4_Missense_Mutation_p.R508H|POSTN_ENST00000541481.1_Missense_Mutation_p.R508H|POSTN_ENST00000541179.1_Missense_Mutation_p.R508H	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	508	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTACCTAAAGCGCTTATCTTG	0.438													False	0	False	13:38154704	0	T	38154704	C	T	38154704	3	4	88	1	0	0	0	0	1	0	0	0	12328	768	27	1	1039	1	POSTN	13	38154704	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16050	38154704	77015174	13658	21370											
POSTN	10631	broad.mit.edu	37	chr13	38160387	38160387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccgtctcttccaagggCctccaatatgtccgatgtga	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38160387C>T	ENST00000379747.4	-	7	901	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	POSTN_ENST00000379742.4_Missense_Mutation_p.A262T|POSTN_ENST00000379743.4_Missense_Mutation_p.A262T|POSTN_ENST00000379749.4_Missense_Mutation_p.A262T|POSTN_ENST00000541481.1_Missense_Mutation_p.A262T|POSTN_ENST00000541179.1_Missense_Mutation_p.A262T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	262	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTCCAAGGGCCTCCAATATG	0.453													False	0	True	13:38160387	0	T	38160387	C	T	38160387	3	4	88	1	0	0	0	0	1	0	0	0	12328	739	26	2	1794	2	POSTN	13	38160387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5683	38160387	77009491	13659	21371											
TRPC4	7223	broad.mit.edu	37	chr13	38266283	38266283	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagataaacttgataaAtggcttcctgatgaacagtc	10	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38266283A>C	ENST00000379705.3	-	4	1944	c.1087T>G	c.(1087-1089)Ttt>Gtt	p.F363V	TRPC4_ENST00000358477.2_Missense_Mutation_p.F363V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F190V|TRPC4_ENST00000338947.5_Missense_Mutation_p.F190V|TRPC4_ENST00000426868.2_Missense_Mutation_p.F363V|TRPC4_ENST00000447043.1_Missense_Mutation_p.F363V|TRPC4_ENST00000379681.3_Missense_Mutation_p.F363V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F363V|TRPC4_ENST00000355779.2_Missense_Mutation_p.F363V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	363					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AACTTGATAAATGGCTTCCTG	0.458													False	0	True	13:38266283	0	C	38266283	A	C	38266283	3	2	88	1	0	0	0	0	1	0	0	0	16663	101	4	4	1893	4	TRPC4	13	38266283	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105896	38266283	76903595	13660	21372											
TRPC4	7223	broad.mit.edu	37	chr13	38266348	38266348	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtagcacacagagaagacaGgaaaaagaagtcctattatg	11	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38266348G>T	ENST00000379705.3	-	4	1879	c.1022C>A	c.(1021-1023)cCt>cAt	p.P341H	TRPC4_ENST00000358477.2_Missense_Mutation_p.P341H|TRPC4_ENST00000379679.1_Missense_Mutation_p.P168H|TRPC4_ENST00000338947.5_Missense_Mutation_p.P168H|TRPC4_ENST00000426868.2_Missense_Mutation_p.P341H|TRPC4_ENST00000447043.1_Missense_Mutation_p.P341H|TRPC4_ENST00000379681.3_Missense_Mutation_p.P341H|TRPC4_ENST00000379673.2_Missense_Mutation_p.P341H|TRPC4_ENST00000355779.2_Missense_Mutation_p.P341H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	341					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGAGAAGACAGGAAAAAGAAG	0.478													False	0	False	13:38266348	0	T	38266348	G	T	38266348	3	4	88	1	0	0	0	0	1	0	0	0	16663	1000	35	3	1958	3	TRPC4	13	38266348	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	38266348	76903530	13661	21373											
UFM1	51569	broad.mit.edu	37	chr13	38924138	38924138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccgctcttttcctcaggtCgaaggtttcctttaagatca	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38924138C>T	ENST00000239878.4	+	2	44	c.5C>T	c.(4-6)tCg>tTg	p.S2L	UFM1_ENST00000379649.1_5'UTR	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	2					protein ufmylation	cytoplasm|nucleus	protein binding			lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		TTCCTCAGGTCGAAGGTTTCC	0.567													False	0	False	13:38924138	0	T	38924138	C	T	38924138	3	4	88	1	0	0	0	0	1	0	0	0	17020	893	31	1	11	1	UFM1	13	38924138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	657790	38924138	76245740	13662	21374											
UFM1	51569	broad.mit.edu	37	chr13	38924356	38924356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctttcccaccggagcctgCgaggagaggtccgtacttgc	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38924356C>T	ENST00000379641.1	+	1	105	c.105C>T	c.(103-105)tgC>tgT	p.C35C	UFM1_ENST00000239878.4_Intron|UFM1_ENST00000379649.1_Silent_p.C35C			P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	0					protein ufmylation	cytoplasm|nucleus	protein binding			lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		CCGGAGCCTGCGAGGAGAGGT	0.567													False	0	False	13:38924356	0	T	38924356	C	T	38924356	2	4	88	1	0	0	0	0	0	0	0	1	17020	783	27	1		1	UFM1	13	38924356	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	38924356	76245522	13663	21375											
FREM2	341640	broad.mit.edu	37	chr13	39262299	39262299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccacacagccgccagtcGctcaccaaacagggactgga	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262299G>A	ENST00000280481.7	+	1	1034	c.818G>A	c.(817-819)cGc>cAc	p.R273H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	273					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R273H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCGCCAGTCGCTCACCAAAC	0.622													False	0	False	13:39262299	0	A	39262299	G	A	39262299	3	1	88	1	0	0	0	0	1	0	0	0	6087	1087	38	1	820	1	FREM2	13	39262299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337943	39262299	75907579	13664	21376											
FREM2	341640	broad.mit.edu	37	chr13	39262336	39262336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggatacccatggtggtggaGctgcgttcacgaggggctcc	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262336G>T	ENST00000280481.7	+	1	1071	c.855G>T	c.(853-855)gaG>gaT	p.E285D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	285					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGTGGTGGAGCTGCGTTCAC	0.607													False	0	False	13:39262336	0	T	39262336	G	T	39262336	3	4	88	1	0	0	0	0	1	0	0	0	6087	962	34	3	857	3	FREM2	13	39262336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	39262336	75907542	13665	21377											
FREM2	341640	broad.mit.edu	37	chr13	39262809	39262809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggctccggtggtcacccGgaataccggtcttattctct	10	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262809G>A	ENST00000280481.7	+	1	1544	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	443					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R443Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGGTCACCCGGAATACCGGT	0.542													False	0	True	13:39262809	0	A	39262809	G	A	39262809	3	1	88	1	0	0	0	0	1	0	0	0	6087	1116	39	1	1330	1	FREM2	13	39262809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	473	39262809	75907069	13666	21378											
FREM2	341640	broad.mit.edu	37	chr13	39263085	39263085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcgacaacctggtgcttcGcatggtggatggaggaggca	17	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263085G>A	ENST00000280481.7	+	1	1820	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	535					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGGTGCTTCGCATGGTGGAT	0.587													False	0	False	13:39263085	0	A	39263085	G	A	39263085	3	1	88	1	0	0	0	0	1	0	0	0	6087	1087	38	1	1606	1	FREM2	13	39263085	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	276	39263085	75906793	13667	21379											
FREM2	341640	broad.mit.edu	37	chr13	39263542	39263542	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctaatcagtccgggctacaGcggtttgtgattcgtatcca	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263542G>T	ENST00000280481.7	+	1	2277	c.2061G>T	c.(2059-2061)caG>caT	p.Q687H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	687					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCGGGCTACAGCGGTTTGTGA	0.557													False	0	False	13:39263542	0	T	39263542	G	T	39263542	3	4	88	1	0	0	0	0	1	0	0	0	6087	962	34	3	2063	3	FREM2	13	39263542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	457	39263542	75906336	13668	21380											
FREM2	341640	broad.mit.edu	37	chr13	39263556	39263556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacagcggtttgtgattcGtatccatcctgtggatcgcc	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263556G>A	ENST00000280481.7	+	1	2291	c.2075G>A	c.(2074-2076)cGt>cAt	p.R692H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	692					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTGTGATTCGTATCCATCCT	0.567													False	0	False	13:39263556	0	A	39263556	G	A	39263556	3	1	88	1	0	0	0	0	1	0	0	0	6087	1145	40	1	2077	1	FREM2	13	39263556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	39263556	75906322	13669	21381											
FREM2	341640	broad.mit.edu	37	chr13	39264040	39264040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtgagacagagttgcaCgtgaatgatgtagacactga	13	6	0	7			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264040C>T	ENST00000280481.7	+	1	2775	c.2559C>T	c.(2557-2559)caC>caT	p.H853H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	853					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGAGTTGCACGTGAATGATG	0.502													False	0	False	13:39264040	0	T	39264040	C	T	39264040	2	4	88	1	0	0	0	0	0	0	0	1	6087	535	19	1		1	FREM2	13	39264040	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	484	39264040	75905838	13670	21382											
FREM2	341640	broad.mit.edu	37	chr13	39264502	39264502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagcagtttactcaaagGgacatcttggagggctctgt	13	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264502G>A	ENST00000280481.7	+	1	3237	c.3021G>A	c.(3019-3021)agG>agA	p.R1007R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1007					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTACTCAAAGGGACATCTTGG	0.448													False	0	True	13:39264502	0	A	39264502	G	A	39264502	2	1	88	1	0	0	0	0	0	0	0	1	6087	1223	43	2		2	FREM2	13	39264502	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	462	39264502	75905376	13671	21383											
FREM2	341640	broad.mit.edu	37	chr13	39264866	39264866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctctgagaaatcaagaGcagggattgccataagtgct	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264866G>A	ENST00000280481.7	+	1	3601	c.3385G>A	c.(3385-3387)Gca>Aca	p.A1129T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1129					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAATCAAGAGCAGGGATTGC	0.463													False	0	False	13:39264866	0	A	39264866	G	A	39264866	3	1	88	1	0	0	0	0	1	0	0	0	6087	971	34	2	3387	2	FREM2	13	39264866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	364	39264866	75905012	13672	21384											
FREM2	341640	broad.mit.edu	37	chr13	39265074	39265074	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagatgtttatgagagaatTtatggtgatggaaggcatga	14	1	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39265074T>G	ENST00000280481.7	+	1	3809	c.3593T>G	c.(3592-3594)tTt>tGt	p.F1198C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1198					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATGAGAGAATTTATGGTGATG	0.403													False	0	True	13:39265074	0	G	39265074	T	G	39265074	3	3	88	1	0	0	0	0	1	0	0	0	6087	1841	64	4	3595	4	FREM2	13	39265074	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	208	39265074	75904804	13673	21385											
FREM2	341640	broad.mit.edu	37	chr13	39357242	39357242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccccagtccaaatactccGttgaagaagatgttggtgag	10	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39357242G>A	ENST00000280481.7	+	5	5893	c.5677G>A	c.(5677-5679)Gtt>Att	p.V1893I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1893	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1893I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAAATACTCCGTTGAAGAAGA	0.438													False	0	False	13:39357242	0	A	39357242	G	A	39357242	3	1	88	1	0	0	0	0	1	0	0	0	6087	1145	40	1	5695	1	FREM2	13	39357242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92168	39357242	75812636	13674	21386											
FREM2	341640	broad.mit.edu	37	chr13	39448647	39448647	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatccaaccagcatgcgcatCggtgatgaggggcgcttggc	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39448647C>T	ENST00000280481.7	+	18	8421	c.8205C>T	c.(8203-8205)atC>atT	p.I2735I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2735					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCATGCGCATCGGTGATGAGG	0.473													False	0	False	13:39448647	0	T	39448647	C	T	39448647	2	4	88	1	0	0	0	0	0	0	0	1	6087	874	31	1		1	FREM2	13	39448647	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91405	39448647	75721231	13675	21387											
FREM2	341640	broad.mit.edu	37	chr13	39450468	39450468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaataccgcctgccagtcacCtgcaaccccagagaacctgt	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39450468C>T	ENST00000280481.7	+	20	8709	c.8493C>T	c.(8491-8493)acC>acT	p.T2831T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2831					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCCAGTCACCTGCAACCCCA	0.483													False	0	False	13:39450468	0	T	39450468	C	T	39450468	2	4	88	1	0	0	0	0	0	0	0	1	6087	668	24	2		2	FREM2	13	39450468	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1821	39450468	75719410	13676	21388											
STOML3	0	broad.mit.edu	37	chr13	39541021	39541021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgccaccaatgccctctaGtatattcatgggcagaggaa	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39541021G>A	ENST00000379631.4	-	7	1161	c.817C>T	c.(817-819)Cta>Tta	p.L273L	STOML3_ENST00000423210.1_Silent_p.L264L	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	273						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ATGCCCTCTAGTATATTCATG	0.498													False	0	False	13:39541021	0	A	39541021	G	A	39541021	2	1	88	1	0	0	0	0	0	0	0	1	15397	1020	36	2		2	STOML3	13	39541021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90553	39541021	75628857	13677	21389											
NHLRC3	387921	broad.mit.edu	37	chr13	39621894	39621894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagcacccccagtgggaaGcattggggagtgttctgtga	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39621894G>T	ENST00000379600.3	+	7	1197	c.875G>T	c.(874-876)aGc>aTc	p.S292I	NHLRC3_ENST00000379599.2_Missense_Mutation_p.S225I|NHLRC3_ENST00000470258.1_Missense_Mutation_p.S95I	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	292						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CCAGTGGGAAGCATTGGGGAG	0.483													False	0	False	13:39621894	0	T	39621894	G	T	39621894	3	4	88	1	0	0	0	0	1	0	0	0	10475	971	34	3	901	3	NHLRC3	13	39621894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80873	39621894	75547984	13678	21390											
COG6	57511	broad.mit.edu	37	chr13	40235011	40235011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcaagatatgacaagtcGcctacaggtattatataatg	8	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:40235011G>A	ENST00000416691.1	+	3	462	c.362G>A	c.(361-363)cGc>cAc	p.R121H	COG6_ENST00000455146.3_Missense_Mutation_p.R121H	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	121					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATGACAAGTCGCCTACAGGTA	0.313													False	0	False	13:40235011	0	A	40235011	G	A	40235011	3	1	88	1	0	0	0	0	1	0	0	0	3685	1087	38	1	372	1	COG6	13	40235011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	613117	40235011	74934867	13679	21391											
MRPS31	10240	broad.mit.edu	37	chr13	41340970	41340970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttttggggggctttgTtgttcgtacatttactgtgc	11	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41340970T>C	ENST00000323563.6	-	2	388	c.352A>G	c.(352-354)Aca>Gca	p.T118A		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	118						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGGGGCTTTGTTGTTCGTACA	0.378													False	0	False	13:41340970	0	C	41340970	T	C	41340970	3	2	88	1	0	0	0	0	1	0	0	0	9908	1725	60	4	859	4	MRPS31	13	41340970	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1105959	41340970	73828908	13680	21392											
ELF1	1997	broad.mit.edu	37	chr13	41507949	41507949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattgaaggaggagagcccGccttttgtgactgcagcatg	13	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41507949G>A	ENST00000239882.3	-	9	1786	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V	ELF1_ENST00000442101.1_Missense_Mutation_p.A467V|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	491					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A491V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		AGGAGAGCCCGCCTTTTGTGA	0.483													False	0	True	13:41507949	0	A	41507949	G	A	41507949	3	1	88	1	0	0	0	0	1	0	0	0	5085	1087	38	1	391	1	ELF1	13	41507949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166979	41507949	73661929	13681	21393											
WBP4	11193	broad.mit.edu	37	chr13	41646932	41646932	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattagacagcagtgaagacCgtttgggtagaaggtttaag	13	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41646932C>T	ENST00000379487.3	+	7	901	c.501C>T	c.(499-501)acC>acT	p.T167T	WBP4_ENST00000542082.1_Silent_p.T146T	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	167	WW 2.				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CAGTGAAGACCGTTTGGGTAG	0.358													False	0	False	13:41646932	0	T	41646932	C	T	41646932	2	4	88	1	0	0	0	0	0	0	0	1	17345	639	23	1		1	WBP4	13	41646932	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138983	41646932	73522946	13682	21394											
MTRF1	9617	broad.mit.edu	37	chr13	41791362	41791362	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cccttcccaccacataaaaaTtcctggtaaaagagagagct	6	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41791362T>A	ENST00000379480.4	-	10	1327	c.1227A>T	c.(1225-1227)gaA>gaT	p.E409D	MTRF1_ENST00000379477.1_Missense_Mutation_p.E409D|MTRF1_ENST00000430347.2_Missense_Mutation_p.N458I	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	409					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CACATAAAAATTCCTGGTAAA	0.333													False	0	True	13:41791362	0	A	41791362	T	A	41791362	3	1	88	1	0	0	0	0	1	0	0	0	10026	1490	52	5	114	5	MTRF1	13	41791362	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	144430	41791362	73378516	13683	21395											
NAA16	79612	broad.mit.edu	37	chr13	41899884	41899884	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtgaattgatattataccaGaatcaagtgatgagagaggc	11	4	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41899884G>T	ENST00000379406.3	+	6	912	c.588G>T	c.(586-588)caG>caT	p.Q196H	NAA16_ENST00000379367.3_Missense_Mutation_p.Q196H|NAA16_ENST00000403412.3_Missense_Mutation_p.Q196H	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	196					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TATTATACCAGAATCAAGTGA	0.284													False	0	False	13:41899884	0	T	41899884	G	T	41899884	3	4	88	1	0	0	0	0	1	0	0	0	10186	933	33	3	610	3	NAA16	13	41899884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108522	41899884	73269994	13684	21396											
AKAP11	11215	broad.mit.edu	37	chr13	42876137	42876137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtagatggtttgcatgtGgaagataaacagaaagtcag	13	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42876137G>A	ENST00000025301.2	+	8	3430	c.3255G>A	c.(3253-3255)gtG>gtA	p.V1085V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1085					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTTTGCATGTGGAAGATAAAC	0.428													False	0	False	13:42876137	0	A	42876137	G	A	42876137	2	1	88	1	0	0	0	0	0	0	0	1	447	1335	47	2		2	AKAP11	13	42876137	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	976253	42876137	72293741	13685	21397											
AKAP11	11215	broad.mit.edu	37	chr13	42877029	42877029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaaatcaggattacaggaaGcagctaagacaaccaaagtg	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42877029G>A	ENST00000025301.2	+	8	4322	c.4147G>A	c.(4147-4149)Gca>Aca	p.A1383T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1383					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATTACAGGAAGCAGCTAAGAC	0.388													False	0	False	13:42877029	0	A	42877029	G	A	42877029	3	1	88	1	0	0	0	0	1	0	0	0	447	971	34	2	4169	2	AKAP11	13	42877029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	892	42877029	72292849	13686	21398											
TNFSF11	0	broad.mit.edu	37	chr13	43148613	43148613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggggctggggctgggCcaggttgtctgcagcgtcgc	18	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43148613C>T	ENST00000239849.6	+	1	325	c.174C>T	c.(172-174)ggC>ggT	p.G58G	TNFSF11_ENST00000358545.2_Intron|TNFSF11_ENST00000398795.2_5'UTR|TNFSF11_ENST00000405262.2_Intron|TNFSF11_ENST00000544862.1_5'UTR			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	58					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TGGGGCTGGGCCAGGTTGTCT	0.721													False	0	True	13:43148613	0	T	43148613	C	T	43148613	2	4	88	1	0	0	0	0	0	0	0	1	16384	726	26	2		2	TNFSF11	13	43148613	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271584	43148613	72021265	13687	21399											
EPSTI1	94240	broad.mit.edu	37	chr13	43500515	43500515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacagcactttgacaggcaCttctgtctggcgattctgtg	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43500515C>T	ENST00000313640.7	-	7	678	c.614G>A	c.(613-615)aGt>aAt	p.S205N	EPSTI1_ENST00000398762.3_Missense_Mutation_p.S205N|EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313624.7_Missense_Mutation_p.S205N	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	205										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TTGACAGGCACTTCTGTCTGG	0.433													False	0	False	13:43500515	0	T	43500515	C	T	43500515	3	4	88	1	0	0	0	0	1	0	0	0	5230	565	20	2	646	2	EPSTI1	13	43500515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	351902	43500515	71669363	13688	21400											
EPSTI1	94240	broad.mit.edu	37	chr13	43538235	43538235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagattgcatcagctggagTtgttgtttctgtctgacttc	10	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43538235T>G	ENST00000313640.7	-	4	436	c.372A>C	c.(370-372)caA>caC	p.Q124H	EPSTI1_ENST00000398762.3_Missense_Mutation_p.Q124H|EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313624.7_Missense_Mutation_p.Q124H	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	124										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCAGCTGGAGTTGTTGTTTCT	0.363													False	0	True	13:43538235	0	G	43538235	T	G	43538235	3	3	88	1	0	0	0	0	1	0	0	0	5230	1722	60	4	900	4	EPSTI1	13	43538235	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37720	43538235	71631643	13689	21401											
ENOX1	55068	broad.mit.edu	37	chr13	43935567	43935567	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgttgaggcttggatcaAagcctgggacacagattgag	13	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43935567A>C	ENST00000261488.6	-	6	807	c.230T>G	c.(229-231)tTt>tGt	p.F77C	ENOX1_ENST00000412891.1_Missense_Mutation_p.F77C	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	77					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCTTGGATCAAAGCCTGGGAC	0.433													False	0	True	13:43935567	0	C	43935567	A	C	43935567	3	2	88	1	0	0	0	0	1	0	0	0	5158	14	1	4	1749	4	ENOX1	13	43935567	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	397332	43935567	71234311	13690	21402											
ENOX1	55068	broad.mit.edu	37	chr13	43986136	43986136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggctgtgggatctgtcaCggacatgttgagctgggtcg	16	9	2	1	rs146373261		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43986136C>T	ENST00000261488.6	-	5	701	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	ENOX1_ENST00000412891.1_Missense_Mutation_p.V42M	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	42					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGATCTGTCACGGACATGTTG	0.537													False	0	False	13:43986136	0	T	43986136	C	T	43986136	3	4	88	1	0	0	0	0	1	0	0	0	5158	536	19	1	1859	1	ENOX1	13	43986136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50569	43986136	71183742	13691	21403											
ENOX1	55068	broad.mit.edu	37	chr13	43986165	43986165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctgggtcgtgtctatcGctatactccccaaaccatcg	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43986165G>A	ENST00000261488.6	-	5	672	c.95C>T	c.(94-96)gCg>gTg	p.A32V	ENOX1_ENST00000412891.1_Missense_Mutation_p.A32V	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	32					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CGTGTCTATCGCTATACTCCC	0.488													False	0	False	13:43986165	0	A	43986165	G	A	43986165	3	1	88	1	0	0	0	0	1	0	0	0	5158	1087	38	1	1888	1	ENOX1	13	43986165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29	43986165	71183713	13692	21404											
TSC22D1	8848	broad.mit.edu	37	chr13	45149075	45149075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcattaggaacactgCtaacagcagcagaggaagaa	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45149075C>T	ENST00000458659.2	-	1	1626	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	TSC22D1_ENST00000501704.2_Missense_Mutation_p.S379N	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	379					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGGAACACTGCTAACAGCAGC	0.483													False	0	False	13:45149075	0	T	45149075	C	T	45149075	3	4	88	1	0	0	0	0	1	0	0	0	16690	797	28	2	2226	2	TSC22D1	13	45149075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1162910	45149075	70020803	13693	21405											
NUFIP1	26747	broad.mit.edu	37	chr13	45554055	45554055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaactggacaatcttctcGtgtgcagtaaaagagcaatc	10	8	2	1	rs138309260	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45554055G>A	ENST00000379161.4	-	4	673	c.627C>T	c.(625-627)caC>caT	p.H209H		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	209					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		CAATCTTCTCGTGTGCAGTAA	0.294													False	0	False	13:45554055	0	A	45554055	G	A	45554055	2	1	88	1	0	0	0	0	0	0	0	1	10816	1136	40	1		1	NUFIP1	13	45554055	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	404980	45554055	69615823	13694	21406											
SLC25A30	253512	broad.mit.edu	37	chr13	45976427	45976427	+	Missense_Mutation	SNP	T	T	C													taccttccacagtcctcttgTcccctcttgctggtaaatgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45976427T>C	ENST00000539591.1	-	5	482	c.319A>G	c.(319-321)Aca>Gca	p.T107A				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	158					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		AGTCCTCTTGTCCCCTCTTGC	0.368													False	0	True	13:45976427	0	C	45976427	T	C	45976427	3	2	88	1	0	0	0	0	1	0	0	0	14574	1667	58	4	423	4	SLC25A30	13	45976427	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	422372	45976427	69193451	13695	21407	233	2									
SLC25A30	253512	broad.mit.edu	37	chr13	45976437	45976437	+	Missense_Mutation	SNP	C	C	A													agtcctcttgtcccctcttgCtggtaaatgttcatgaagtt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45976437C>A	ENST00000539591.1	-	5	472	c.309G>T	c.(307-309)caG>caT	p.Q103H				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	154					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		TCCCCTCTTGCTGGTAAATGT	0.383													False	0	False	13:45976437	0	A	45976437	C	A	45976437	3	1	88	1	0	0	0	0	1	0	0	0	14574	796	28	3	433	3	SLC25A30	13	45976437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	45976437	69193441	13696	21408	233	2									
COG3	83548	broad.mit.edu	37	chr13	46067616	46067616	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaagatcatgtgcagaAcaatggtaaatgagtagaaa	11	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46067616A>C	ENST00000349995.5	+	12	1434	c.1322A>C	c.(1321-1323)aAc>aCc	p.N441T	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	441					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CATGTGCAGAACAATGGTAAA	0.353													False	0	False	13:46067616	0	C	46067616	A	C	46067616	3	2	88	1	0	0	0	0	1	0	0	0	3682	43	2	4	1368	4	COG3	13	46067616	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	91179	46067616	69102262	13697	21409											
SPERT	220082	broad.mit.edu	37	chr13	46276968	46276968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgaaagcctagaaattcCaatcagtgtggttctacctc	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46276968C>T	ENST00000310521.1	+	2	214	c.134C>T	c.(133-135)cCa>cTa	p.P45L		NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	45						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CTAGAAATTCCAATCAGTGTG	0.428													False	0	False	13:46276968	0	T	46276968	C	T	46276968	3	4	88	1	0	0	0	0	1	0	0	0	15121	594	21	2	140	2	SPERT	13	46276968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209352	46276968	68892910	13698	21410											
SPERT	220082	broad.mit.edu	37	chr13	46287329	46287329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccgcagaggggcacagccGaacccttcccgaggctccac	11	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46287329G>A	ENST00000378966.3	+	2	477	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	SPERT_ENST00000310521.1_Missense_Mutation_p.E57K			Q8NA61	SPERT_HUMAN	spermatid associated	57						cytoplasmic membrane-bounded vesicle		p.E57K(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGGCACAGCCGAACCCTTCCC	0.647													False	0	False	13:46287329	0	A	46287329	G	A	46287329	3	1	88	1	0	0	0	0	1	0	0	0	15121	1059	37	1	179	1	SPERT	13	46287329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10361	46287329	68882549	13699	21411											
ZC3H13	23091	broad.mit.edu	37	chr13	46563006	46563006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcgcattggagagcgatGtcttggaggactctgctttc	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46563006G>A	ENST00000242848.4	-	9	1519	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	ZC3H13_ENST00000282007.3_Missense_Mutation_p.H391Y			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	391	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GGAGAGCGATGTCTTGGAGGA	0.483													False	0	False	13:46563006	0	A	46563006	G	A	46563006	3	1	88	1	0	0	0	0	1	0	0	0	17648	1377	48	2	3559	2	ZC3H13	13	46563006	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275677	46563006	68606872	13700	21412											
CPB2	1361	broad.mit.edu	37	chr13	46679085	46679085	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggttacctctgaaacgcgaaGacatgctgctcacagaagag	11	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46679085G>A	ENST00000181383.4	-	1	76	c.60C>T	c.(58-60)gtC>gtT	p.V20V	CPB2_ENST00000439329.3_Silent_p.V20V|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	20					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GAAACGCGAAGACATGCTGCT	0.468													False	0	False	13:46679085	0	A	46679085	G	A	46679085	2	1	88	1	0	0	0	0	0	0	0	1	3820	929	33	2		2	CPB2	13	46679085	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116079	46679085	68490793	13701	21413											
LCP1	3936	broad.mit.edu	37	chr13	46704966	46704966	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tactttgcattgttgagtttCtcatcatcattcagattttc	5	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46704966C>T	ENST00000398576.2	-	18	2122	c.1734G>A	c.(1732-1734)gaG>gaA	p.E578E	LCP1_ENST00000435666.2_Silent_p.E147E|LCP1_ENST00000323076.2_Silent_p.E578E			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	578	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGTTGAGTTTCTCATCATCAT	0.423			T	BCL6	NHL								False	0	True	13:46704966	0	T	46704966	C	T	46704966	2	4	88	1	0	0	0	0	0	0	0	1	8742	912	32	2		2	LCP1	13	46704966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25881	46704966	68464912	13702	21414											
LCP1	3936	broad.mit.edu	37	chr13	46716542	46716542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttccccaattctaccgCgtagttacaattctcaagct	4	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46716542C>T	ENST00000398576.2	-	16	1775	c.1387G>A	c.(1387-1389)Gcg>Acg	p.A463T	LCP1_ENST00000435666.2_Missense_Mutation_p.A32T|LCP1_ENST00000323076.2_Missense_Mutation_p.A463T			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	463	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AATTCTACCGCGTAGTTACAA	0.388			T	BCL6	NHL								False	0	False	13:46716542	0	T	46716542	C	T	46716542	3	4	88	1	0	0	0	0	1	0	0	0	8742	768	27	1	512	1	LCP1	13	46716542	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11576	46716542	68453336	13703	21415											
LCP1	3936	broad.mit.edu	37	chr13	46730615	46730615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcattaaagagatcattcGtgtttgggttcattgggatg	12	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46730615G>A	ENST00000398576.2	-	8	837	c.449C>T	c.(448-450)aCg>aTg	p.T150M	LCP1_ENST00000323076.2_Missense_Mutation_p.T150M			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	150	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GAGATCATTCGTGTTTGGGTT	0.393			T	BCL6	NHL								False	0	False	13:46730615	0	A	46730615	G	A	46730615	3	1	88	1	0	0	0	0	1	0	0	0	8742	1145	40	1	1482	1	LCP1	13	46730615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14073	46730615	68439263	13704	21416											
LCP1	3936	broad.mit.edu	37	chr13	46733793	46733793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcggacactgatcctctgGccattttttattgctttagg	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46733793G>A	ENST00000398576.2	-	5	393	c.5C>T	c.(4-6)gCc>gTc	p.A2V	LCP1_ENST00000460190.1_5'UTR|LCP1_ENST00000323076.2_Missense_Mutation_p.A2V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	2					regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGATCCTCTGGCCATTTTTTA	0.388			T	BCL6	NHL								False	0	False	13:46733793	0	A	46733793	G	A	46733793	3	1	88	1	0	0	0	0	1	0	0	0	8742	1203	42	2	1938	2	LCP1	13	46733793	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3178	46733793	68436085	13705	21417											
LRCH1	23143	broad.mit.edu	37	chr13	47255891	47255891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacaggatgtcagctgcaacGagatcacagcgttgccccag	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47255891G>A	ENST00000311191.6	+	4	824	c.595G>A	c.(595-597)Gag>Aag	p.E199K	LRCH1_ENST00000389797.3_Missense_Mutation_p.E199K|LRCH1_ENST00000389798.3_Missense_Mutation_p.E199K	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	199										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CAGCTGCAACGAGATCACAGC	0.368													False	0	False	13:47255891	0	A	47255891	G	A	47255891	3	1	88	1	0	0	0	0	1	0	0	0	8994	1059	37	1	609	1	LRCH1	13	47255891	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	522098	47255891	67913987	13706	21418											
LRCH1	23143	broad.mit.edu	37	chr13	47262061	47262061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattaagacagctgactcCctttatctccacaccatgga	6	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47262061C>T	ENST00000311191.6	+	6	1126	c.897C>T	c.(895-897)tcC>tcT	p.S299S	LRCH1_ENST00000389797.3_Silent_p.S299S|LRCH1_ENST00000389798.3_Silent_p.S299S	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	299										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CAGCTGACTCCCTTTATCTCC	0.423													False	0	True	13:47262061	0	T	47262061	C	T	47262061	2	4	88	1	0	0	0	0	0	0	0	1	8994	610	22	2		2	LRCH1	13	47262061	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6170	47262061	67907817	13707	21419											
LRCH1	23143	broad.mit.edu	37	chr13	47269052	47269052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcatcaggaatttcaacCggagccttcccttttgggtg	9	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47269052C>T	ENST00000311191.6	+	9	1374	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	LRCH1_ENST00000389797.3_Missense_Mutation_p.P382L|LRCH1_ENST00000389798.3_Missense_Mutation_p.P382L	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	382										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GAATTTCAACCGGAGCCTTCC	0.398													False	0	False	13:47269052	0	T	47269052	C	T	47269052	3	4	88	1	0	0	0	0	1	0	0	0	8994	652	23	1	1179	1	LRCH1	13	47269052	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6991	47269052	67900826	13708	21420											
LRCH1	23143	broad.mit.edu	37	chr13	47297373	47297373	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtttctaagacctcagAgaaatttggaatctatagac	8	6	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47297373A>C	ENST00000311191.6	+	16	1901	c.1672A>C	c.(1672-1674)Aga>Cga	p.R558R	LRCH1_ENST00000389797.3_Silent_p.R593R|LRCH1_ENST00000389798.3_Silent_p.R558R	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	558										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AAGACCTCAGAGAAATTTGGA	0.383													False	0	False	13:47297373	0	C	47297373	A	C	47297373	2	2	88	1	0	0	0	0	0	0	0	1	8994	296	11	4		4	LRCH1	13	47297373	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28321	47297373	67872505	13709	21421											
ESD	2098	broad.mit.edu	37	chr13	47345570	47345570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgcattcaggtatttaGcatgatgtctgatgtggtca	10	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47345570G>T	ENST00000378720.3	-	10	1012	c.830C>A	c.(829-831)gCt>gAt	p.A277D	ESD_ENST00000378697.1_Missense_Mutation_p.A248D	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	277						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CAGGTATTTAGCATGATGTCT	0.308													False	0	False	13:47345570	0	T	47345570	G	T	47345570	3	4	88	1	0	0	0	0	1	0	0	0	5282	971	34	3	22	3	ESD	13	47345570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48197	47345570	67824308	13710	21422											
HTR2A	3356	broad.mit.edu	37	chr13	47409298	47409298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaccgatccaaacaaacaCattgagcagggccccaatga	7	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47409298C>T	ENST00000378688.4	-	3	1221	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	HTR2A_ENST00000543956.1_Missense_Mutation_p.V280M|HTR2A_ENST00000542664.1_Missense_Mutation_p.V364M			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	364					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CAAACAAACACATTGAGCAGG	0.468													False	0	True	13:47409298	0	T	47409298	C	T	47409298	3	4	88	1	0	0	0	0	1	0	0	0	7491	478	17	2	329	2	HTR2A	13	47409298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63728	47409298	67760580	13711	21423											
SUCLA2	8803	broad.mit.edu	37	chr13	48528619	48528619	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttcctgggtccagtcCtgtagatcaaagattttctt	7	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48528619C>A	ENST00000378654.3	-	7	932	c.876G>T	c.(874-876)caG>caT	p.Q292H	SUCLA2_ENST00000534875.1_Missense_Mutation_p.Q234H|SUCLA2_ENST00000544100.1_Missense_Mutation_p.Q158H|SUCLA2_ENST00000543413.1_Missense_Mutation_p.Q234H	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	292					succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	GGGTCCAGTCCTGTAGATCAA	0.403													False	0	False	13:48528619	0	A	48528619	C	A	48528619	3	1	88	1	0	0	0	0	1	0	0	0	15445	680	24	3	535	3	SUCLA2	13	48528619	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1119321	48528619	66641259	13712	21424											
ITM2B	9445	broad.mit.edu	37	chr13	48832293	48832293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatttagatcttaacctggAtaagtgctatgtgatccctc	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48832293A>C	ENST00000378565.5	+	4	688	c.485A>C	c.(484-486)gAt>gCt	p.D162A	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	162	BRICHOS.				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CTTAACCTGGATAAGTGCTAT	0.368													False	0	False	13:48832293	0	C	48832293	A	C	48832293	3	2	88	1	0	0	0	0	1	0	0	0	7963	333	12	4	499	4	ITM2B	13	48832293	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	303674	48832293	66337585	13713	21425											
RB1	5925	broad.mit.edu	37	chr13	48916833	48916833	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcacttttactgagctacaGaaaaacatagaaatcaggta	6	7	2	3	rs67045046		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48916833G>T	ENST00000267163.4	+	3	501	c.363G>T	c.(361-363)caG>caT	p.Q121H		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	121					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGAGCTACAGAAAAACATAG	0.348		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			False	0	True	13:48916833	0	T	48916833	G	T	48916833	3	4	88	1	0	0	0	0	1	0	0	0	13177	933	33	3	373	3	RB1	13	48916833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84540	48916833	66253045	13714	21426											
RB1	5925	broad.mit.edu	37	chr13	48955427	48955427	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaacagatttgtctttcCcatggattctgaatgtgctt	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48955427C>A	ENST00000267163.4	+	17	1681	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	515	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTGTCTTTCCCATGGATTCT	0.303		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			False	0	True	13:48955427	0	A	48955427	C	A	48955427	3	1	88	1	0	0	0	0	1	0	0	0	13177	623	22	3	1609	3	RB1	13	48955427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38594	48955427	66214451	13715	21427											
LPAR6	10161	broad.mit.edu	37	chr13	48986181	48986181	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgcatttcttttggttcttaGagtctttgacttaaatgggt	9	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48986181G>T	ENST00000378434.4	-	7	2003	c.379C>A	c.(379-381)Cta>Ata	p.L127I	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.L127I	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	127						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TTGGTTCTTAGAGTCTTTGAC	0.418													False	0	False	13:48986181	0	T	48986181	G	T	48986181	3	4	88	1	0	0	0	0	1	0	0	0	8971	933	33	3	659	3	LPAR6	13	48986181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30754	48986181	66183697	13716	21428											
RB1	5925	broad.mit.edu	37	chr13	49054158	49054158	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactcgaacacgaatgcaaaAgcagaaaatgaatgatagca	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49054158A>G	ENST00000267163.4	+	27	2876	c.2738A>G	c.(2737-2739)aAg>aGg	p.K913R	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	913	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGAATGCAAAAGCAGAAAATG	0.418		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			False	0	True	13:49054158	0	G	49054158	A	G	49054158	3	3	88	1	0	0	0	0	1	0	0	0	13177	72	3	4	2844	4	RB1	13	49054158	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67977	49054158	66115720	13717	21429											
RCBTB2	1102	broad.mit.edu	37	chr13	49064315	49064315	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caggagatcatggtccatttCtgcaaaacctgatgtttgtg	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49064315C>T	ENST00000344532.3	-	15	2011	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	RCBTB2_ENST00000544492.1_Missense_Mutation_p.E256K|RCBTB2_ENST00000430805.2_Missense_Mutation_p.E535K	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	530							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TGGTCCATTTCTGCAAAACCT	0.383													False	0	True	13:49064315	0	T	49064315	C	T	49064315	3	4	88	1	0	0	0	0	1	0	0	0	13251	922	32	2	71	2	RCBTB2	13	49064315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10157	49064315	66105563	13718	21430											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281308	49281308	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggattatgtcttattccttgTatgtcaacatgtacagcagt	8	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49281308T>C	ENST00000282018.3	+	1	358	c.355T>C	c.(355-357)Tat>Cat	p.Y119H		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	119					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTATTCCTTGTATGTCAACAT	0.468													False	0	False	13:49281308	0	C	49281308	T	C	49281308	3	2	88	1	0	0	0	0	1	0	0	0	4227	1638	57	4	357	4	CYSLTR2	13	49281308	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	216993	49281308	65888570	13719	21431											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281382	49281382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggcaatggttcacccCtttcggcttctgcatgtcac	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49281382C>T	ENST00000282018.3	+	1	432	c.429C>T	c.(427-429)ccC>ccT	p.P143P		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	143					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGGTTCACCCCTTTCGGCTTC	0.478													False	0	True	13:49281382	0	T	49281382	C	T	49281382	2	4	88	1	0	0	0	0	0	0	0	1	4227	668	24	2		2	CYSLTR2	13	49281382	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74	49281382	65888496	13720	21432											
FNDC3A	22862	broad.mit.edu	37	chr13	49741418	49741418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactttaaatgatctcaagcCagccatggattaccatgcaa	6	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49741418C>A	ENST00000492622.2	+	9	1321	c.1016C>A	c.(1015-1017)cCa>cAa	p.P339Q	FNDC3A_ENST00000398316.3_Missense_Mutation_p.P283Q|FNDC3A_ENST00000541916.1_Missense_Mutation_p.P339Q	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	339	Fibronectin type-III 1.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GATCTCAAGCCAGCCATGGAT	0.303													False	0	True	13:49741418	0	A	49741418	C	A	49741418	3	1	88	1	0	0	0	0	1	0	0	0	6009	594	21	3	1057	3	FNDC3A	13	49741418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	460036	49741418	65428460	13721	21433											
FNDC3A	22862	broad.mit.edu	37	chr13	49762718	49762718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatcgactgaatccaggCtgtttctatcgtttacgagt	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49762718C>T	ENST00000492622.2	+	17	2198	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	FNDC3A_ENST00000398316.3_Silent_p.G575G|FNDC3A_ENST00000541916.1_Silent_p.G631G	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	631	Fibronectin type-III 4.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGAATCCAGGCTGTTTCTATC	0.393													False	0	False	13:49762718	0	T	49762718	C	T	49762718	2	4	88	1	0	0	0	0	0	0	0	1	6009	784	28	2		2	FNDC3A	13	49762718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21300	49762718	65407160	13722	21434											
FNDC3A	22862	broad.mit.edu	37	chr13	49772216	49772216	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgtcttcaagaaataagCgatgatgagatagaaaatcc	8	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49772216C>T	ENST00000492622.2	+	22	2894	c.2589C>T	c.(2587-2589)agC>agT	p.S863S	FNDC3A_ENST00000398316.3_Silent_p.S807S|FNDC3A_ENST00000541916.1_Silent_p.S863S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	863	Fibronectin type-III 7.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGAAATAAGCGATGATGAGA	0.468													False	0	False	13:49772216	0	T	49772216	C	T	49772216	2	4	88	1	0	0	0	0	0	0	0	1	6009	767	27	1		1	FNDC3A	13	49772216	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9498	49772216	65397662	13723	21435											
MLNR	2862	broad.mit.edu	37	chr13	49794908	49794908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctgccgcccgctccgCgcccgcgtcttggtcacccg	11	21	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49794908C>T	ENST00000398307.1	+	1	435	c.435C>T	c.(433-435)cgC>cgT	p.R145R	MLNR_ENST00000218721.1_Silent_p.R145R			O43193	MTLR_HUMAN	motilin receptor	145					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GCCCGCTCCGCGCCCGCGTCT	0.721													False	0	False	13:49794908	0	T	49794908	C	T	49794908	2	4	88	1	0	0	0	0	0	0	0	1	9699	755	27	1		1	MLNR	13	49794908	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22692	49794908	65374970	13724	21436											
MLNR	2862	broad.mit.edu	37	chr13	49796490	49796490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctacaccgagacaagcGctaacgtgaagacgatggga	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49796490G>A	ENST00000218721.1	+	2	1216	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	406					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGAGACAAGCGCTAACGTGAA	0.557													False	0	False	13:49796490	0	A	49796490	G	A	49796490	3	1	88	1	0	0	0	0	1	0	0	0	9699	1087	38	1	1222	1	MLNR	13	49796490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1582	49796490	65373388	13725	21437											
CDADC1	81602	broad.mit.edu	37	chr13	49833585	49833586	+	Frame_Shift_Ins	INS	-	-	GA													attgctcttattaaacatggINSgtcaaggctgaaaaactgtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49833585_49833586insGA	ENST00000251108.6	+	4	469_470	c.356_357insGA	c.(355-360)gggtcafs	p.GS119fs	CDADC1_ENST00000444959.1_Intron|CDADC1_ENST00000538056.1_Frame_Shift_Ins_p.GS119fs	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	119							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		ATTAAACATGGGTCAAGGCTGA	0.386													False	0	True	13:49833585	0	GA	49833586	-	GA	49833585	7	5	88	1	0	1	1	0	0	0	0	0	3076	1232	43	0	370	0	CDADC1	13	49833585	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	37095	49833585	65336293	13726	21438	234	2									
CDADC1	81602	broad.mit.edu	37	chr13	49833587	49833588	+	In_Frame_Ins	INS	-	-	TTTGTTTAATTCTTTATCTAAACAGAGTTTGTA													tgctcttattaaacatgggtINScaaggctgaaaaactgtgat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49833587_49833588insTTTGTTTAATTCTTTATCTAAACAGAGTTTGTA	ENST00000251108.6	+	4	471_472	c.358_359insTTTGTTTAATTCTTTATCTAAACAGAGTTTGTA	c.(358-360)tca>tTTTGTTTAATTCTTTATCTAAACAGAGTTTGTAca	p.120_120S>FCLILYLNRVCT	CDADC1_ENST00000444959.1_Intron|CDADC1_ENST00000538056.1_In_Frame_Ins_p.120_120S>FCLILYLNRVCT	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	120							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TAAACATGGGTCAAGGCTGAAA	0.386													False	0	False	13:49833587	0	TTTGTTTAATTCTTTATCTAAACAGAGTTTGTA	49833588	-	TTTGTTTAATTCTTTATCTAAACAGAGTTTGTA	49833587	7	5	88	1	0	1	1	0	0	0	0	0	3076	1667	58	0	372	0	CDADC1	13	49833587	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	2	49833587	65336291	13727	21439	234	2									
CDADC1	81602	broad.mit.edu	37	chr13	49841720	49841720	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaaagttagatgccaaAgcagtggaaagattgaagtc	12	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49841720A>C	ENST00000251108.6	+	5	638	c.525A>C	c.(523-525)aaA>aaC	p.K175N	CDADC1_ENST00000444959.1_5'UTR	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	175							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TAGATGCCAAAGCAGTGGAAA	0.433													False	0	True	13:49841720	0	C	49841720	A	C	49841720	3	2	88	1	0	0	0	0	1	0	0	0	3076	69	3	4	543	4	CDADC1	13	49841720	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8133	49841720	65328158	13728	21440											
CDADC1	81602	broad.mit.edu	37	chr13	49852631	49852631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcagatacatcatacatgCggaacagaatgccttgacat	7	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49852631C>T	ENST00000251108.6	+	7	1309	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	CDADC1_ENST00000444959.1_Missense_Mutation_p.A201V	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	399							hydrolase activity|zinc ion binding	p.A399E(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		ATCATACATGCGGAACAGAAT	0.353													False	0	False	13:49852631	0	T	49852631	C	T	49852631	3	4	88	1	0	0	0	0	1	0	0	0	3076	768	27	1	1222	1	CDADC1	13	49852631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10911	49852631	65317247	13729	21441											
PHF11	51131	broad.mit.edu	37	chr13	50080886	50080886	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatagctgctcatgagaaTtgtttggtaagttacttgaa	9	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50080886T>G	ENST00000357596.3	+	3	369	c.93T>G	c.(91-93)aaT>aaG	p.N31K	PHF11_ENST00000378319.3_Missense_Mutation_p.N70K|PHF11_ENST00000488958.1_Missense_Mutation_p.N31K	NM_001040444.1	NP_001035534.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CTCATGAGAATTGTTTGGTAA	0.343													False	0	False	13:50080886	0	G	50080886	T	G	50080886	3	3	88	1	0	0	0	0	1	0	0	0	11891	1490	52	4	216	4	PHF11	13	50080886	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	228255	50080886	65088992	13730	21442											
RCBTB1	55213	broad.mit.edu	37	chr13	50125569	50125569	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatacagcaagccctcatcTgttagtgctagagtatgtgc	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50125569T>C	ENST00000378302.2	-	8	1007	c.747A>G	c.(745-747)acA>acG	p.T249T	RCBTB1_ENST00000546015.1_Silent_p.T249T|RCBTB1_ENST00000258646.3_Silent_p.T249T	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	249					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AGCCCTCATCTGTTAGTGCTA	0.473													False	0	False	13:50125569	0	C	50125569	T	C	50125569	2	2	88	1	0	0	0	0	0	0	0	1	13250	1567	55	4		4	RCBTB1	13	50125569	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44683	50125569	65044309	13731	21443											
RCBTB1	55213	broad.mit.edu	37	chr13	50141409	50141409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgggccactttccgacatCcaccatgactctggcttcaa	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50141409C>T	ENST00000378302.2	-	3	267	c.7G>A	c.(7-9)Gat>Aat	p.D3N	RCBTB1_ENST00000546015.1_Missense_Mutation_p.D3N|RCBTB1_ENST00000258646.3_Missense_Mutation_p.D3N	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	3					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TTTCCGACATCCACCATGACT	0.468													False	0	False	13:50141409	0	T	50141409	C	T	50141409	3	4	88	1	0	0	0	0	1	0	0	0	13250	855	30	2	1632	2	RCBTB1	13	50141409	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15840	50141409	65028469	13732	21444											
ARL11	115761	broad.mit.edu	37	chr13	50204565	50204565	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctggcctttctcccctaGgattcagcagtggccaccat	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50204565G>T	ENST00000282026.1	+	2	317		c.e2-1		ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11						small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		TTCTCCCCTAGGATTCAGCAG	0.577													False	0	False	13:50204565	0	T	50204565	G	T	50204565	5	4	88	1	0	0	0	0	0	0	1	0	929	1014	35	3		3	ARL11	13	50204565	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63156	50204565	64965313	13733	21445											
EBPL	84650	broad.mit.edu	37	chr13	50235155	50235155	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgatgcattttcttgagTtctagccatgactgccacag	8	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50235155T>G	ENST00000242827.6	-	4	620	c.570A>C	c.(568-570)gaA>gaC	p.E190D	EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000495963.2_5'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	190					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTTTCTTGAGTTCTAGCCATG	0.408													False	0	False	13:50235155	0	G	50235155	T	G	50235155	3	3	88	1	0	0	0	0	1	0	0	0	4917	1722	60	4	54	4	EBPL	13	50235155	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30590	50235155	64934723	13734	21446											
EBPL	84650	broad.mit.edu	37	chr13	50237284	50237284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatttccacagacacaatggTtggatcaaaataaacccatc	5	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50237284T>C	ENST00000378284.2	-	3	327	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	EBPL_ENST00000242827.6_Missense_Mutation_p.T97A|EBPL_ENST00000378272.5_Intron|EBPL_ENST00000378270.5_Intron|EBPL_ENST00000378282.5_Missense_Mutation_p.T91A|EBPL_ENST00000495963.2_5'UTR	NM_001278636.1	NP_001265565.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	97					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GACACAATGGTTGGATCAAAA	0.403													False	0	False	13:50237284	0	C	50237284	T	C	50237284	3	2	88	1	0	0	0	0	1	0	0	0	4917	1725	60	4	339	4	EBPL	13	50237284	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2129	50237284	64932594	13735	21447											
RNASEH2B	79621	broad.mit.edu	37	chr13	51522132	51522132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttctttcagaggattataTtcgttatgcccatggtctga	9	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:51522132T>C	ENST00000336617.3	+	8	1025	c.626T>C	c.(625-627)aTt>aCt	p.I209T	RNASEH2B_ENST00000422660.1_Missense_Mutation_p.I209T|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	209					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GAGGATTATATTCGTTATGCC	0.303													False	0	False	13:51522132	0	C	51522132	T	C	51522132	3	2	88	1	0	0	0	0	1	0	0	0	13492	1493	52	4	656	4	RNASEH2B	13	51522132	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1284848	51522132	63647746	13736	21448											
WDFY2	115825	broad.mit.edu	37	chr13	52234790	52234790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggccaagcgtataccatGcaatgccttgtaagtatcca	8	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52234790G>A	ENST00000298125.5	+	2	376	c.196G>A	c.(196-198)Gca>Aca	p.A66T		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	66							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CGTATACCATGCAATGCCTTG	0.393													False	0	False	13:52234790	0	A	52234790	G	A	52234790	3	1	88	1	0	0	0	0	1	0	0	0	17353	1319	46	2	202	2	WDFY2	13	52234790	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	712658	52234790	62935088	13737	21449											
CCDC70	83446	broad.mit.edu	37	chr13	52439824	52439824	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaaaaccttctggaaagagGaaaaatccttctgggaaatg	10	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52439824G>T	ENST00000242819.4	+	2	606	c.310G>T	c.(310-312)Gaa>Taa	p.E104*		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	104						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CTGGAAAGAGGAAAAATCCTT	0.473													False	0	True	13:52439824	0	T	52439824	G	T	52439824	4	4	88	1	0	0	0	0	0	1	0	0	2864	1175	41	3	312	3	CCDC70	13	52439824	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205034	52439824	62730054	13738	21450											
ATP7B	540	broad.mit.edu	37	chr13	52524499	52524499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaccaccttgacgatatcGccccgctgcaccagctccat	9	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52524499G>A	ENST00000242839.4	-	10	2640	c.2484C>T	c.(2482-2484)ggC>ggT	p.G828G	ATP7B_ENST00000417240.2_Silent_p.G100G|ATP7B_ENST00000418097.2_Silent_p.G828G|ATP7B_ENST00000400366.3_Silent_p.G717G|ATP7B_ENST00000448424.2_Silent_p.G750G|ATP7B_ENST00000344297.5_Silent_p.G666G|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	828					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGACGATATCGCCCCGCTGCA	0.567									Wilson disease				False	0	True	13:52524499	0	A	52524499	G	A	52524499	2	1	88	1	0	0	0	0	0	0	0	1	1195	1074	38	1		1	ATP7B	13	52524499	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84675	52524499	62645379	13739	21451											
ALG11	440138	broad.mit.edu	37	chr13	52593140	52593140	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggggaatcagactgctgCtacagagaaagaaaaaatta	10	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52593140C>A	ENST00000521508.1	+	2	141	c.136C>A	c.(136-138)Cta>Ata	p.L46I	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		CAGACTGCTGCTACAGAGAAA	0.373													False	0	False	13:52593140	0	A	52593140	C	A	52593140	3	1	88	1	0	0	0	0	1	0	0	0	513	796	28	3	142	3	ALG11	13	52593140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68641	52593140	62576738	13740	21452											
ALG11	440138	broad.mit.edu	37	chr13	52593269	52593269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatggtgtgctttaagagccCtgcagaaaaagtaggtatcc	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52593269C>A	ENST00000521508.1	+	2	270	c.265C>A	c.(265-267)Ctg>Atg	p.L89M	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TTTAAGAGCCCTGCAGAAAAA	0.313													False	0	True	13:52593269	0	A	52593269	C	A	52593269	3	1	88	1	0	0	0	0	1	0	0	0	513	680	24	3	271	3	ALG11	13	52593269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	52593269	62576609	13741	21453											
ALG11	440138	broad.mit.edu	37	chr13	52598190	52598190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggcgatgttaatgtcaaCggtcaacagatactagaagg	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52598190C>T	ENST00000521508.1	+	3	329	c.324C>T	c.(322-324)aaC>aaT	p.N108N	ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TTAATGTCAACGGTCAACAGA	0.333													False	0	False	13:52598190	0	T	52598190	C	T	52598190	2	4	88	1	0	0	0	0	0	0	0	1	513	535	19	1		1	ALG11	13	52598190	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4921	52598190	62571688	13742	21454											
UTP14C	9724	broad.mit.edu	37	chr13	52603460	52603460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcccattgaacatgcgCtcagtggctggaaggcaaga	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52603460C>T	ENST00000521776.2	+	2	1253	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	174					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TGAACATGCGCTCAGTGGCTG	0.527													False	0	False	13:52603460	0	T	52603460	C	T	52603460	3	4	88	1	0	0	0	0	1	0	0	0	17180	797	28	2	522	2	UTP14C	13	52603460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5270	52603460	62566418	13743	21455											
UTP14C	9724	broad.mit.edu	37	chr13	52603992	52603992	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggagggaggcacagaagTggaagaactccttgtccctc	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52603992T>C	ENST00000521776.2	+	2	1785	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	351					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GGCACAGAAGTGGAAGAACTC	0.522													False	0	False	13:52603992	0	C	52603992	T	C	52603992	3	2	88	1	0	0	0	0	1	0	0	0	17180	1696	59	4	1054	4	UTP14C	13	52603992	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	532	52603992	62565886	13744	21456											
NEK5	341676	broad.mit.edu	37	chr13	52657437	52657437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgcatcttgatggacagGcaggttactcttcttcacca	9	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52657437G>A	ENST00000355568.4	-	17	1670	c.1531C>T	c.(1531-1533)Cct>Tct	p.P511S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	511							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGATGGACAGGCAGGTTACTC	0.433													False	0	True	13:52657437	0	A	52657437	G	A	52657437	3	1	88	1	0	0	0	0	1	0	0	0	10395	1203	42	2	619	2	NEK5	13	52657437	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53445	52657437	62512441	13745	21457											
NEK5	341676	broad.mit.edu	37	chr13	52684547	52684547	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcttgctaagaaaaatgttCtataaatggagaaaatgtca	7	4	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52684547C>T	ENST00000355568.4	-	7	536		c.e7-1			NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5								ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAAAATGTTCTATAAATGGA	0.363													False	0	False	13:52684547	0	T	52684547	C	T	52684547	5	4	88	1	0	0	0	0	0	0	1	0	10395	927	32	2	1794	2	NEK5	13	52684547	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27110	52684547	62485331	13746	21458											
NEK5	341676	broad.mit.edu	37	chr13	52686441	52686441	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acacaccccgttgtctattgAtccttttcatgagatcccct	5	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52686441A>C	ENST00000355568.4	-	5	414	c.275T>G	c.(274-276)aTc>aGc	p.I92S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	92	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TTGTCTATTGATCCTTTTCAT	0.358													False	0	False	13:52686441	0	C	52686441	A	C	52686441	3	2	88	1	0	0	0	0	1	0	0	0	10395	333	12	4	1923	4	NEK5	13	52686441	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1894	52686441	62483437	13747	21459											
THSD1	55901	broad.mit.edu	37	chr13	52952067	52952067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgtcctagagctgtaggCaggggcctgccgtggagtca	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52952067C>T	ENST00000349258.4	-	4	2423	c.1879G>A	c.(1879-1881)Gcc>Acc	p.A627T	THSD1_ENST00000544466.1_Missense_Mutation_p.A301T|THSD1_ENST00000258613.4_Missense_Mutation_p.A680T	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	680						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GAGCTGTAGGCAGGGGCCTGC	0.597													False	0	False	13:52952067	0	T	52952067	C	T	52952067	3	4	88	1	0	0	0	0	1	0	0	0	15959	710	25	2	524	2	THSD1	13	52952067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	265626	52952067	62217811	13748	21460											
THSD1	55901	broad.mit.edu	37	chr13	52952422	52952422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggccgcatcaatggcagtGtctgtcaggggactctgaga	16	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52952422G>A	ENST00000349258.4	-	4	2068	c.1524C>T	c.(1522-1524)gaC>gaT	p.D508D	THSD1_ENST00000544466.1_Silent_p.D182D|THSD1_ENST00000258613.4_Silent_p.D561D	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	561						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CAATGGCAGTGTCTGTCAGGG	0.527													False	0	True	13:52952422	0	A	52952422	G	A	52952422	2	1	88	1	0	0	0	0	0	0	0	1	15959	1368	48	2		2	THSD1	13	52952422	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	355	52952422	62217456	13749	21461											
VPS36	51028	broad.mit.edu	37	chr13	52991255	52991255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagctcaattaccatgacGccactgtcaaacacacggag	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52991255G>A	ENST00000378060.4	-	12	954	c.927C>T	c.(925-927)ggC>ggT	p.G309G		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	309					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TTACCATGACGCCACTGTCAA	0.468													False	0	False	13:52991255	0	A	52991255	G	A	52991255	2	1	88	1	0	0	0	0	0	0	0	1	17288	1074	38	1		1	VPS36	13	52991255	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38833	52991255	62178623	13750	21462											
VPS36	51028	broad.mit.edu	37	chr13	53007820	53007820	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaaatgtttttgtcagtttCttttcttttttcttccagtt	5	6	4	1	rs144817587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53007820C>A	ENST00000378060.4	-	6	532	c.505G>T	c.(505-507)Gaa>Taa	p.E169*		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	169					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	p.E169K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TTGTCAGTTTCTTTTCTTTTT	0.343													False	0	True	13:53007820	0	A	53007820	C	A	53007820	4	1	88	1	0	0	0	0	0	1	0	0	17288	922	32	3	691	3	VPS36	13	53007820	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16565	53007820	62162058	13751	21463											
HNRNPA1L2	144983	broad.mit.edu	37	chr13	53217583	53217583	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tagctatggcagtggcagaaGattttaattaggaaacaaag	11	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53217583G>T	ENST00000342657.3	+	7	2029	c.956G>T	c.(955-957)aGa>aTa	p.R319I	HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.R319I|HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.R319I	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	319					mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						AGTGGCAGAAGATTTTAATTA	0.493													False	0	False	13:53217583	0	T	53217583	G	T	53217583	3	4	88	1	0	0	0	0	1	0	0	0	7305	942	33	3	958	3	HNRNPA1L2	13	53217583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	209763	53217583	61952295	13752	21464											
LECT1	11061	broad.mit.edu	37	chr13	53282672	53282672	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagcaccggaacgcacaTgataaggattatcaggattg	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282672T>C	ENST00000448904.2	-	6	898	c.788A>G	c.(787-789)cAt>cGt	p.H263R	LECT1_ENST00000377962.3_Splice_Site_p.H263R	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	263					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GGAACGCACATGATAAGGATT	0.488													False	0	False	13:53282672	0	C	53282672	T	C	53282672	5	2	88	1	0	0	0	0	0	0	1	0	8763	1478	51	4	224	4	LECT1	13	53282672	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65089	53282672	61887206	13753	21465											
LECT1	11061	broad.mit.edu	37	chr13	53282814	53282814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaacaatttttcttaccaCttctcttctttccctctgga	4	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282814C>T	ENST00000448904.2	-	6	756	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	LECT1_ENST00000377962.3_Missense_Mutation_p.V216M	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	216					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TTTCTTACCACTTCTCTTCTT	0.383													False	0	True	13:53282814	0	T	53282814	C	T	53282814	3	4	88	1	0	0	0	0	1	0	0	0	8763	565	20	2	366	2	LECT1	13	53282814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142	53282814	61887064	13754	21466											
PCDH8	5100	broad.mit.edu	37	chr13	53419069	53419069	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcggtgcacgcccacagtcCtaatacgaaagggaaaagga	12	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53419069C>A	ENST00000377942.3	-	3	3043		c.e3-1		PCDH8_ENST00000338862.4_Splice_Site	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8						cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCCCACAGTCCTAATACGAAA	0.552													False	0	False	13:53419069	0	A	53419069	C	A	53419069	5	1	88	1	0	0	0	0	0	0	1	0	11585	695	24	3	377	3	PCDH8	13	53419069	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136255	53419069	61750809	13755	21467											
PCDH8	5100	broad.mit.edu	37	chr13	53419603	53419603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttttcagagcgtccccGctgatgtcggaatcgctgtc	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53419603G>A	ENST00000377942.3	-	2	2999	c.2796C>T	c.(2794-2796)agC>agT	p.S932S	PCDH8_ENST00000338862.4_Silent_p.S835S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	932					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GAGCGTCCCCGCTGATGTCGG	0.522													False	0	True	13:53419603	0	A	53419603	G	A	53419603	2	1	88	1	0	0	0	0	0	0	0	1	11585	1078	38	1		1	PCDH8	13	53419603	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	534	53419603	61750275	13756	21468											
PCDH8	5100	broad.mit.edu	37	chr13	53420462	53420462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccacgaagctgacagttgCggtggtggtgagcgggggac	18	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53420462C>T	ENST00000377942.3	-	1	2313	c.2110G>A	c.(2110-2112)Gca>Aca	p.A704T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A704T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	704	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTGACAGTTGCGGTGGTGGTG	0.711													False	0	True	13:53420462	0	T	53420462	C	T	53420462	3	4	88	1	0	0	0	0	1	0	0	0	11585	768	27	1	1114	1	PCDH8	13	53420462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	859	53420462	61749416	13757	21469											
PCDH8	5100	broad.mit.edu	37	chr13	53422137	53422137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccactgccgcaccctcGgacacctctaccgggatctg	10	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422137G>A	ENST00000377942.3	-	1	638	c.435C>T	c.(433-435)tcC>tcT	p.S145S	PCDH8_ENST00000338862.4_Silent_p.S145S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	145	Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.S145S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGCACCCTCGGACACCTCTA	0.711													False	0	False	13:53422137	0	A	53422137	G	A	53422137	2	1	88	1	0	0	0	0	0	0	0	1	11585	1103	39	1		1	PCDH8	13	53422137	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1675	53422137	61747741	13758	21470											
PCDH8	5100	broad.mit.edu	37	chr13	53422316	53422316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggtccaggccggcgtcccCgacggtcagctgcccgtcgc	15	18	1	0	rs113194848		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422316C>T	ENST00000377942.3	-	1	459	c.256G>A	c.(256-258)Ggg>Agg	p.G86R	PCDH8_ENST00000338862.4_Missense_Mutation_p.G86R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	86	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGGCGTCCCCGACGGTCAGC	0.647													False	0	True	13:53422316	0	T	53422316	C	T	53422316	3	4	88	1	0	0	0	0	1	0	0	0	11585	652	23	1	2968	1	PCDH8	13	53422316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	53422316	61747562	13759	21471											
PCDH8	5100	broad.mit.edu	37	chr13	53422634	53422634	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggtttccaggtcgggcGtcagtctcaggctctcggaa	13	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422634G>A	ENST00000377942.3	-	0	141				PCDH8_ENST00000338862.4_De_novo_Start_OutOfFrame	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8						cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGGTCGGGCGTCAGTCTCAG	0.627													False	0	False	13:53422634	0	A	53422634	G	A	53422634	1	1	88	1	0	0	0	0	0	0	0	0	11585	1160	40	1		1	PCDH8	13	53422634	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318	53422634	61747244	13760	21472											
PCDH17	27253	broad.mit.edu	37	chr13	58207971	58207971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgactgaccgcccgctgGaccgcgagacacaagacgag	14	13	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:58207971G>A	ENST00000377918.3	+	1	1317	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	431	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGCCCGCTGGACCGCGAGAC	0.647													False	0	False	13:58207971	0	A	58207971	G	A	58207971	3	1	88	1	0	0	0	0	1	0	0	0	11580	1174	41	2	1293	2	PCDH17	13	58207971	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4785337	58207971	56961907	13761	21473											
PCDH17	27253	broad.mit.edu	37	chr13	58240622	58240622	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagacaattttcccgcagaGcccaattacatgggcagcag	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:58240622G>T	ENST00000377918.3	+	2	2612	c.2586G>T	c.(2584-2586)gaG>gaT	p.E862D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	862					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TTCCCGCAGAGCCCAATTACA	0.413													False	0	True	13:58240622	0	T	58240622	G	T	58240622	3	4	88	1	0	0	0	0	1	0	0	0	11580	962	34	3	2592	3	PCDH17	13	58240622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32651	58240622	56929256	13762	21474											
DIAPH3	81624	broad.mit.edu	37	chr13	60348321	60348321	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttataaatacggtttattAccatggttacaaactttcag	5	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:60348321A>C	ENST00000400324.4	-	27	3540		c.e27+1		DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Splice_Site|DIAPH3_ENST00000400319.1_Splice_Site|DIAPH3_ENST00000400330.1_Splice_Site|DIAPH3_ENST00000400320.1_Splice_Site|DIAPH3_ENST00000267215.4_Silent_p.G1107G	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3						actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ACGGTTTATTACCATGGTTAC	0.313													False	0	False	13:60348321	0	C	60348321	A	C	60348321	5	2	88	1	0	0	0	0	0	0	1	0	4550	405	14	4	288	4	DIAPH3	13	60348321	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2107699	60348321	54821557	13763	21475											
DIAPH3	81624	broad.mit.edu	37	chr13	60686224	60686224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcatctctaaaggtgctgCtgagcaatcactgcttgcaa	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:60686224C>A	ENST00000400324.4	-	3	530	c.310G>T	c.(310-312)Gca>Tca	p.A104S	DIAPH3_ENST00000377908.2_Missense_Mutation_p.A93S|DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A104S|DIAPH3_ENST00000400320.1_Missense_Mutation_p.A93S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.A104S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	104					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAGGTGCTGCTGAGCAATCA	0.408													False	0	False	13:60686224	0	A	60686224	C	A	60686224	3	1	88	1	0	0	0	0	1	0	0	0	4550	797	28	3	3395	3	DIAPH3	13	60686224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	337903	60686224	54483654	13764	21476											
PCDH20	64881	broad.mit.edu	37	chr13	61986600	61986600	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgggtgagttgttctcttcGatggttagttctattaaggg	13	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61986600G>A	ENST00000409186.1	-	5	3737	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	PCDH20_ENST00000409204.4_Silent_p.I544I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	517	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTTCTCTTCGATGGTTAGTT	0.413													False	0	False	13:61986600	0	A	61986600	G	A	61986600	2	1	88	1	0	0	0	0	0	0	0	1	11583	1048	37	1		1	PCDH20	13	61986600	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1300376	61986600	53183278	13765	21477											
PCDH20	64881	broad.mit.edu	37	chr13	61986877	61986877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcttatggtgaaaaacGcaatgggagtgttaacgggt	13	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61986877G>A	ENST00000409186.1	-	5	3460	c.1355C>T	c.(1354-1356)gCg>gTg	p.A452V	PCDH20_ENST00000409204.4_Missense_Mutation_p.A452V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	425	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTGAAAAACGCAATGGGAGT	0.413													False	0	False	13:61986877	0	A	61986877	G	A	61986877	3	1	88	1	0	0	0	0	1	0	0	0	11583	1087	38	1	1504	1	PCDH20	13	61986877	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	277	61986877	53183001	13766	21478											
PCDH20	64881	broad.mit.edu	37	chr13	61987229	61987229	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgcaattggggtgcccaCtgtagcattcccatacacag	10	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61987229C>A	ENST00000409186.1	-	5	3108	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L	PCDH20_ENST00000409204.4_Missense_Mutation_p.V335L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	308	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGGTGCCCACTGTAGCATTC	0.458													False	0	False	13:61987229	0	A	61987229	C	A	61987229	3	1	88	1	0	0	0	0	1	0	0	0	11583	565	20	3	1856	3	PCDH20	13	61987229	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	352	61987229	53182649	13767	21479											
PCDH9	5101	broad.mit.edu	37	chr13	66879090	66879090	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccagcaattatcagagtgAcccaaaaccaagcactcttg	6	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:66879090A>G	ENST00000544246.1	-	5	4102	c.3411T>C	c.(3409-3411)ggT>ggC	p.G1137G	PCDH9_ENST00000377865.2_Silent_p.G1137G|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Silent_p.G1103G|PCDH9_ENST00000456367.1_Silent_p.G1103G	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1137					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATCAGAGTGACCCAAAACCA	0.488													False	0	True	13:66879090	0	G	66879090	A	G	66879090	2	3	88	1	0	0	0	0	0	0	0	1	11586	262	10	4		4	PCDH9	13	66879090	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4891861	66879090	48290788	13768	21480											
PCDH9	5101	broad.mit.edu	37	chr13	67801996	67801996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccctctggagtttccaCgatatccagtccaaaaacac	5	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:67801996C>T	ENST00000544246.1	-	2	1268	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PCDH9_ENST00000377865.2_Missense_Mutation_p.V193M|PCDH9_ENST00000328454.5_Missense_Mutation_p.V193M|PCDH9_ENST00000377861.3_Missense_Mutation_p.V193M|PCDH9_ENST00000456367.1_Missense_Mutation_p.V193M	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	193	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGTTTCCACGATATCCAGT	0.423													False	0	False	13:67801996	0	T	67801996	C	T	67801996	3	4	88	1	0	0	0	0	1	0	0	0	11586	536	19	1	3152	1	PCDH9	13	67801996	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	922906	67801996	47367882	13769	21481											
PCDH9	5101	broad.mit.edu	37	chr13	67802202	67802202	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttatttttattttgatcagcCtgaagaaatcattggggagg	10	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:67802202C>A	ENST00000544246.1	-	2	1062	c.371G>T	c.(370-372)aGg>aTg	p.R124M	PCDH9_ENST00000377865.2_Missense_Mutation_p.R124M|PCDH9_ENST00000328454.5_Missense_Mutation_p.R124M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R124M|PCDH9_ENST00000456367.1_Missense_Mutation_p.R124M	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	124	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTGATCAGCCTGAAGAAATC	0.398													False	0	False	13:67802202	0	A	67802202	C	A	67802202	3	1	88	1	0	0	0	0	1	0	0	0	11586	681	24	3	3358	3	PCDH9	13	67802202	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206	67802202	47367676	13770	21482											
KLHL1	57626	broad.mit.edu	37	chr13	70293595	70293595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtcacatgtggccactcCgacaccccctctcctcttac	5	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70293595C>T	ENST00000377844.4	-	9	2680	c.1921G>A	c.(1921-1923)Gga>Aga	p.G641R	KLHL1_ENST00000545028.1_Missense_Mutation_p.G448R	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	641					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTGGCCACTCCGACACCCCCT	0.448													False	0	False	13:70293595	0	T	70293595	C	T	70293595	3	4	88	1	0	0	0	0	1	0	0	0	8415	661	23	1	337	1	KLHL1	13	70293595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2491393	70293595	44876283	13771	21483											
KLHL1	57626	broad.mit.edu	37	chr13	70413134	70413134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttatccattcctcctacaGcatacaaagttccgactgta	5	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70413134G>T	ENST00000377844.4	-	6	2147	c.1388C>A	c.(1387-1389)gCt>gAt	p.A463D	KLHL1_ENST00000545028.1_Missense_Mutation_p.A270D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	463					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCCTCCTACAGCATACAAAGT	0.343													False	0	False	13:70413134	0	T	70413134	G	T	70413134	3	4	88	1	0	0	0	0	1	0	0	0	8415	971	34	3	882	3	KLHL1	13	70413134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119539	70413134	44756744	13772	21484											
KLHL1	57626	broad.mit.edu	37	chr13	70681635	70681635	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggcttcttccagaaagtgCtcacaccgcttctctcttgg	8	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70681635C>A	ENST00000377844.4	-	1	956	c.197G>T	c.(196-198)aGc>aTc	p.S66I	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	66	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCAGAAAGTGCTCACACCGCT	0.592													False	0	False	13:70681635	0	A	70681635	C	A	70681635	3	1	88	1	0	0	0	0	1	0	0	0	8415	797	28	3	2093	3	KLHL1	13	70681635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	268501	70681635	44488243	13773	21485											
DACH1	1602	broad.mit.edu	37	chr13	72049848	72049848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctcttaccatttaagacCctgagactatctgttgaagc	6	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:72049848C>A	ENST00000305425.4	-	9	2432	c.2010G>T	c.(2008-2010)agG>agT	p.R670S	DACH1_ENST00000313174.7_Missense_Mutation_p.R522S|DACH1_ENST00000359684.2_Missense_Mutation_p.R722S|DACH1_ENST00000354591.4_Missense_Mutation_p.R468S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	720	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CATTTAAGACCCTGAGACTAT	0.388													False	0	True	13:72049848	0	A	72049848	C	A	72049848	3	1	88	1	0	0	0	0	1	0	0	0	4245	622	22	3	128	3	DACH1	13	72049848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1368213	72049848	43120030	13774	21486											
DACH1	1602	broad.mit.edu	37	chr13	72147139	72147140	+	Frame_Shift_Ins	INS	-	-	TTTTTTTATACAATTATTTTGG													atcatcataaaaggaagttcINScagtcctataaaaaatgcac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:72147139_72147140insTTTTTTTATACAATTATTTTGG	ENST00000305425.4	-	4	1559_1560	c.1137_1138insCCAAAATAATTGTATAAAAAAA	c.(1135-1140)ctggaafs	p.E380fs	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Frame_Shift_Ins_p.E432fs	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	430	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AAAGGAAGTTCCAGTCCTATAA	0.396													False	0	False	13:72147139	0	TTTTTTTATACAATTATTTTGG	72147140	-	TTTTTTTATACAATTATTTTGG	72147139	7	5	88	1	0	1	1	0	0	0	0	0	4245	864	30	0	1020	0	DACH1	13	72147139	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	97291	72147139	43022739	13775	21487											
KLF5	688	broad.mit.edu	37	chr13	73636671	73636671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagctcagagcctggaagtCcagatagacaagcagagatg	12	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:73636671C>T	ENST00000377687.4	+	2	1470	c.934C>T	c.(934-936)Cca>Tca	p.P312S	KLF5_ENST00000539231.1_Missense_Mutation_p.P221S|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	312					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCCTGGAAGTCCAGATAGACA	0.493													False	0	False	13:73636671	0	T	73636671	C	T	73636671	3	4	88	1	0	0	0	0	1	0	0	0	8399	855	30	2	940	2	KLF5	13	73636671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1489532	73636671	41533207	13776	21488											
KLF12	11278	broad.mit.edu	37	chr13	74420163	74420163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatgtgcaaaaactgctgGcctccaacaccagatgcaga	8	11	0	2	rs141339758	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:74420163G>A	ENST00000377669.2	-	3	497	c.471C>T	c.(469-471)ggC>ggT	p.G157G	KLF12_ENST00000377666.4_Silent_p.G157G|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	157					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AAAACTGCTGGCCTCCAACAC	0.498													False	0	False	13:74420163	0	A	74420163	G	A	74420163	2	1	88	1	0	0	0	0	0	0	0	1	8390	1190	42	2		2	KLF12	13	74420163	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	783492	74420163	40749715	13777	21489											
TBC1D4	9882	broad.mit.edu	37	chr13	75876437	75876437	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcaaaagttccttataGgatatgtcaggaggctgttg	11	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:75876437G>T	ENST00000377636.3	-	16	3199	c.2853C>A	c.(2851-2853)tcC>tcA	p.S951S	TBC1D4_ENST00000425511.1_Silent_p.S115S|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.S888S|TBC1D4_ENST00000431480.2_Silent_p.S943S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	951	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GTTCCTTATAGGATATGTCAG	0.418													False	0	False	13:75876437	0	T	75876437	G	T	75876437	2	4	88	1	0	0	0	0	0	0	0	1	15704	987	35	3		3	TBC1D4	13	75876437	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1456274	75876437	39293441	13778	21490											
COMMD6	170622	broad.mit.edu	37	chr13	76104365	76104365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatctgcaagtgtctgagCtcacagccatacccagtttc	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76104365C>T	ENST00000377615.3	-	4	256	c.92G>A	c.(91-93)aGc>aAc	p.S31N	COMMD6_ENST00000406936.3_Missense_Mutation_p.S31N|COMMD6_ENST00000355801.4_Missense_Mutation_p.S31N|COMMD6_ENST00000377619.5_Missense_Mutation_p.S46N|COMMD6_ENST00000460675.1_5'UTR			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	31	COMM.					cytoplasm|nucleus	protein binding			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		AGTGTCTGAGCTCACAGCCAT	0.383													False	0	False	13:76104365	0	T	76104365	C	T	76104365	3	4	88	1	0	0	0	0	1	0	0	0	3743	797	28	2	216	2	COMMD6	13	76104365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227928	76104365	39065513	13779	21491											
LMO7	4008	broad.mit.edu	37	chr13	76369557	76369557	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaagaagagactgacaggaGagtgaaaaatgtaagataca	12	4	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76369557G>A	ENST00000357063.3	+	6	1754	c.494G>A	c.(493-495)aGa>aAa	p.R165K	LMO7_ENST00000377534.3_Missense_Mutation_p.R165K|LMO7_ENST00000526202.1_Missense_Mutation_p.R74K|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Missense_Mutation_p.R165K|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR			Q8WWI1	LMO7_HUMAN	LIM domain 7	165	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACTGACAGGAGAGTGAAAAAT	0.303													False	0	False	13:76369557	0	A	76369557	G	A	76369557	3	1	88	1	0	0	0	0	1	0	0	0	8908	942	33	2	516	2	LMO7	13	76369557	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	265192	76369557	38800321	13780	21492											
LMO7	4008	broad.mit.edu	37	chr13	76379826	76379826	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcccaaatgttggaccccaGaagatgtgaactggaaaaga	10	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76379826G>A	ENST00000357063.3	+	10	2542	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	LMO7_ENST00000377534.3_Missense_Mutation_p.E428K|LMO7_ENST00000526202.1_Intron|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.E143K|LMO7_ENST00000321797.8_Missense_Mutation_p.E143K			Q8WWI1	LMO7_HUMAN	LIM domain 7	428						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTGGACCCCAGAAGATGTGAA	0.413													False	0	False	13:76379826	0	A	76379826	G	A	76379826	3	1	88	1	0	0	0	0	1	0	0	0	8908	943	33	2	1320	2	LMO7	13	76379826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10269	76379826	38790052	13781	21493											
LMO7	4008	broad.mit.edu	37	chr13	76395671	76395671	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaactgatacagtcaggTtaacatctgtggtcacacca	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76395671T>C	ENST00000357063.3	+	15	3982	c.2722T>C	c.(2722-2724)Tta>Cta	p.L908L	LMO7_ENST00000377534.3_Silent_p.L908L|LMO7_ENST00000526202.1_Silent_p.L473L|LMO7_ENST00000341547.4_Silent_p.L574L|LMO7_ENST00000465261.2_Silent_p.L623L|LMO7_ENST00000321797.8_Silent_p.L623L			Q8WWI1	LMO7_HUMAN	LIM domain 7	908						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TACAGTCAGGTTAACATCTGT	0.463													False	0	False	13:76395671	0	C	76395671	T	C	76395671	2	2	88	1	0	0	0	0	0	0	0	1	8908	1722	60	4		4	LMO7	13	76395671	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15845	76395671	38774207	13782	21494											
LMO7	4008	broad.mit.edu	37	chr13	76429476	76429476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatcatcgagtccctggGtctttgttatcatttgcatt	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76429476G>A	ENST00000341547.4	+	28	5156	c.3896G>A	c.(3895-3897)gGt>gAt	p.G1299D	LMO7_ENST00000377534.3_Intron|LMO7_ENST00000357063.3_Intron|LMO7_ENST00000526202.1_Missense_Mutation_p.G1225D|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.G1348D	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	1633						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAGTCCCTGGGTCTTTGTTAT	0.493													False	0	True	13:76429476	0	A	76429476	G	A	76429476	3	1	88	1	0	0	0	0	1	0	0	0	8908	1261	44	2	5016	2	LMO7	13	76429476	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33805	76429476	38740402	13783	21495											
KCTD12	115207	broad.mit.edu	37	chr13	77459400	77459400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcaggtgcccgtggagCtgcacgccaccatgtggaag	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77459400C>T	ENST00000377474.2	-	1	1125	c.884G>A	c.(883-885)aGc>aAc	p.S295N	KCTD12_ENST00000317765.2_Missense_Mutation_p.S295N	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	295						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		GCCCGTGGAGCTGCACGCCAC	0.622											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	13:77459400	0	T	77459400	C	T	77459400	3	4	88	1	0	0	0	0	1	0	0	0	8149	797	28	2	97	2	KCTD12	13	77459400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1029924	77459400	37710478	13784	21496											
KCTD12	115207	broad.mit.edu	37	chr13	77460047	77460047	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcccggtccagaaagaaGcggcctttgctgtcccgggc	13	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77460047G>A	ENST00000377474.2	-	1	478	c.237C>T	c.(235-237)cgC>cgT	p.R79R	KCTD12_ENST00000317765.2_Silent_p.R79R	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	79						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		CCAGAAAGAAGCGGCCTTTGC	0.672													False	0	True	13:77460047	0	A	77460047	G	A	77460047	2	1	88	1	0	0	0	0	0	0	0	1	8149	958	34	2		2	KCTD12	13	77460047	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	647	77460047	37709831	13785	21497											
CLN5	1203	broad.mit.edu	37	chr13	77570262	77570262	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagtagcaactatatcaGgtaagttgtgaaaatatagc	8	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77570262G>T	ENST00000377453.3	+	3	2004	c.712G>T	c.(712-714)Gga>Tga	p.G238*	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	189					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AACTATATCAGGTAAGTTGTG	0.338													False	0	False	13:77570262	0	T	77570262	G	T	77570262	5	4	88	1	0	0	0	0	0	0	1	0	3567	1014	35	3	722	3	CLN5	13	77570262	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110215	77570262	37599616	13786	21498											
FBXL3	26224	broad.mit.edu	37	chr13	77595939	77595939	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtcctcagtttcttggatttCtctgcagttccttcttctga	7	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77595939C>A	ENST00000355619.5	-	2	381	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	19					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCTTGGATTTCTCTGCAGTTC	0.383													False	0	True	13:77595939	0	A	77595939	C	A	77595939	3	1	88	1	0	0	0	0	1	0	0	0	5760	912	32	3	1245	3	FBXL3	13	77595939	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25677	77595939	37573939	13787	21499											
MYCBP2	23077	broad.mit.edu	37	chr13	77625140	77625140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaagcatacctgcaggaCagtgtggtagttcttcctta	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77625140C>T	ENST00000407578.2	-	82	14179	c.13913G>A	c.(13912-13914)tGt>tAt	p.C4638Y	MYCBP2_ENST00000544440.2_Missense_Mutation_p.C4600Y|MYCBP2_ENST00000357337.6_Missense_Mutation_p.C4600Y	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTGCAGGACAGTGTGGTAG	0.318													False	0	False	13:77625140	0	T	77625140	C	T	77625140	3	4	88	1	0	0	0	0	1	0	0	0	10085	478	17	2	131	2	MYCBP2	13	77625140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29201	77625140	37544738	13788	21500											
MYCBP2	23077	broad.mit.edu	37	chr13	77632491	77632491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgtttttaacacccccGcatggatggccacaaggatg	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77632491G>A	ENST00000407578.2	-	78	13457	c.13191C>T	c.(13189-13191)tgC>tgT	p.C4397C	MYCBP2_ENST00000544440.2_Silent_p.C4359C|MYCBP2_ENST00000357337.6_Silent_p.C4359C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACACCCCCGCATGGATGGC	0.448													False	0	True	13:77632491	0	A	77632491	G	A	77632491	2	1	88	1	0	0	0	0	0	0	0	1	10085	1079	38	1		1	MYCBP2	13	77632491	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7351	77632491	37537387	13789	21501											
MYCBP2	23077	broad.mit.edu	37	chr13	77635368	77635368	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgccagtgccatcaaccaGaacaatttggttctaccaca	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77635368G>T	ENST00000407578.2	-	76	13238	c.12972C>A	c.(12970-12972)ttC>ttA	p.F4324L	MYCBP2_ENST00000544440.2_Missense_Mutation_p.F4286L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.F4286L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATCAACCAGAACAATTTGG	0.368													False	0	False	13:77635368	0	T	77635368	G	T	77635368	3	4	88	1	0	0	0	0	1	0	0	0	10085	933	33	3	1096	3	MYCBP2	13	77635368	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2877	77635368	37534510	13790	21502											
MYCBP2	23077	broad.mit.edu	37	chr13	77671856	77671856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcattgtgttatgcatggAcatttcaaaagtggtctcgg	10	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77671856A>G	ENST00000407578.2	-	56	9699	c.9433T>C	c.(9433-9435)Tcc>Ccc	p.S3145P	MYCBP2_ENST00000544440.2_Missense_Mutation_p.S3107P|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S3107P|MYCBP2-AS1_ENST00000593933.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTATGCATGGACATTTCAAAA	0.403													False	0	False	13:77671856	0	G	77671856	A	G	77671856	3	3	88	1	0	0	0	0	1	0	0	0	10085	275	10	4	4715	4	MYCBP2	13	77671856	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36488	77671856	37498022	13791	21503											
MYCBP2	23077	broad.mit.edu	37	chr13	77672965	77672965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctcaactttgcagcaTcagattttaagatgagggat	9	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77672965T>C	ENST00000407578.2	-	56	8590	c.8324A>G	c.(8323-8325)gAt>gGt	p.D2775G	MYCBP2_ENST00000544440.2_Missense_Mutation_p.D2737G|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2737G|MYCBP2_ENST00000360084.5_Missense_Mutation_p.D260G|MYCBP2_ENST00000482517.1_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2737	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTTTGCAGCATCAGATTTTAA	0.463													False	0	False	13:77672965	0	C	77672965	T	C	77672965	3	2	88	1	0	0	0	0	1	0	0	0	10085	1435	50	4	5824	4	MYCBP2	13	77672965	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1109	77672965	37496913	13792	21504											
MYCBP2	23077	broad.mit.edu	37	chr13	77692486	77692486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacttactctgaagctgaGgctgctggaaggaaaggggc	15	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77692486G>A	ENST00000360084.5	-	57	8287	c.584C>T	c.(583-585)cCt>cTt	p.P195L	MYCBP2_ENST00000544440.2_Intron|MYCBP2_ENST00000407578.2_Intron|MYCBP2_ENST00000357337.6_Intron|MYCBP2_ENST00000482517.1_5'UTR			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGAAGCTGAGGCTGCTGGAA	0.463													False	0	False	13:77692486	0	A	77692486	G	A	77692486	3	1	88	1	0	0	0	0	1	0	0	0	10085	1015	35	2		2	MYCBP2	13	77692486	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19521	77692486	37477392	13793	21505											
MYCBP2	23077	broad.mit.edu	37	chr13	77699592	77699592	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgcacccatgtcccttcAgaattggttacctggtacat	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77699592A>G	ENST00000407578.2	-	54	8162	c.7896T>C	c.(7894-7896)tcT>tcC	p.S2632S	MYCBP2_ENST00000544440.2_Silent_p.S2594S|MYCBP2_ENST00000357337.6_Silent_p.S2594S|MYCBP2_ENST00000360084.5_Silent_p.S57S|MYCBP2_ENST00000482517.1_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGTCCCTTCAGAATTGGTTA	0.438													False	0	False	13:77699592	0	G	77699592	A	G	77699592	2	3	88	1	0	0	0	0	0	0	0	1	10085	175	7	4		4	MYCBP2	13	77699592	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7106	77699592	37470286	13794	21506											
MYCBP2	23077	broad.mit.edu	37	chr13	77736067	77736067	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcagcctcctcaagaatttCaaggtcttcttctaattcat	5	11	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77736067C>A	ENST00000407578.2	-	44	6837	c.6571G>T	c.(6571-6573)Gaa>Taa	p.E2191*	MYCBP2_ENST00000544440.2_Nonsense_Mutation_p.E2153*|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.E2153*|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCAAGAATTTCAAGGTCTTCT	0.294													False	0	True	13:77736067	0	A	77736067	C	A	77736067	4	1	88	1	0	0	0	0	0	1	0	0	10085	835	29	3	7625	3	MYCBP2	13	77736067	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36475	77736067	37433811	13795	21507											
MYCBP2	23077	broad.mit.edu	37	chr13	77742684	77742684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctgtggtgctatctgtcGactgattagggttgaaggca	13	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77742684G>A	ENST00000407578.2	-	40	6259	c.5993C>T	c.(5992-5994)tCg>tTg	p.S1998L	MYCBP2_ENST00000544440.2_Missense_Mutation_p.S1960L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1960L|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1960					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTATCTGTCGACTGATTAGG	0.493													False	0	False	13:77742684	0	A	77742684	G	A	77742684	3	1	88	1	0	0	0	0	1	0	0	0	10085	1059	37	1	8219	1	MYCBP2	13	77742684	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6617	77742684	37427194	13796	21508											
MYCBP2	23077	broad.mit.edu	37	chr13	77779470	77779470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcagtgtcggcactgaaaCgtatagcttctactgaatgg	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77779470C>T	ENST00000407578.2	-	26	4030	c.3764G>A	c.(3763-3765)cGt>cAt	p.R1255H	MYCBP2_ENST00000544440.2_Missense_Mutation_p.R1217H|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R1217H|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGCACTGAAACGTATAGCTTC	0.358													False	0	True	13:77779470	0	T	77779470	C	T	77779470	3	4	88	1	0	0	0	0	1	0	0	0	10085	536	19	1	10504	1	MYCBP2	13	77779470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36786	77779470	37390408	13797	21509											
MYCBP2	23077	broad.mit.edu	37	chr13	77825349	77825349	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctccataacctgtacagtctCcacagacagtgcaaaccatg	6	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77825349C>A	ENST00000407578.2	-	15	2584	c.2318G>T	c.(2317-2319)gGa>gTa	p.G773V	MYCBP2_ENST00000544440.2_Missense_Mutation_p.G735V|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G735V|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	735	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGTACAGTCTCCACAGACAGT	0.493													False	0	False	13:77825349	0	A	77825349	C	A	77825349	3	1	88	1	0	0	0	0	1	0	0	0	10085	855	30	3	11994	3	MYCBP2	13	77825349	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45879	77825349	37344529	13798	21510											
EDNRB	1910	broad.mit.edu	37	chr13	78477491	78477491	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actccaagaagcaacagctcGatatctgaagataaaaatag	7	8	1	3	rs104894391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78477491G>A	ENST00000377211.4	-	4	1023	c.871C>T	c.(871-873)Cga>Tga	p.R291*	EDNRB_ENST00000334286.5_Nonsense_Mutation_p.R201*|EDNRB_ENST00000446573.1_Nonsense_Mutation_p.R201*	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	201					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCAACAGCTCGATATCTGAAG	0.343													False	0	False	13:78477491	0	A	78477491	G	A	78477491	4	1	88	1	0	0	0	0	0	1	0	0	4950	1066	37	1	868	1	EDNRB	13	78477491	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	652142	78477491	36692387	13799	21511											
EDNRB	1910	broad.mit.edu	37	chr13	78492556	78492556	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaacccttgggccataaggtCttagtgggtggcgtcattat	13	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78492556C>A	ENST00000377211.4	-	2	575	c.423G>T	c.(421-423)aaG>aaT	p.K141N	EDNRB_ENST00000334286.5_Missense_Mutation_p.K51N|EDNRB_ENST00000446573.1_Missense_Mutation_p.K51N|EDNRB_ENST00000475537.1_5'UTR	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	51					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCCATAAGGTCTTAGTGGGTG	0.632													False	0	False	13:78492556	0	A	78492556	C	A	78492556	3	1	88	1	0	0	0	0	1	0	0	0	4950	912	32	3	1324	3	EDNRB	13	78492556	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15065	78492556	36677322	13800	21512											
POU4F1	5457	broad.mit.edu	37	chr13	79175757	79175757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgcttcttctcgccgccGttgaagagctcaggcttgtt	11	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79175757G>A	ENST00000377208.5	-	2	1264	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607860.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	351					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCTCGCCGCCGTTGAAGAGCT	0.657													False	0	False	13:79175757	0	A	79175757	G	A	79175757	2	1	88	1	0	0	0	0	0	0	0	1	12347	1136	40	1		1	POU4F1	13	79175757	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	683201	79175757	35994121	13801	21513											
RNF219	79596	broad.mit.edu	37	chr13	79190301	79190301	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agattttgtcaaggtaagcaGcatccatcgatgcttcactg	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79190301G>T	ENST00000282003.6	-	6	1653	c.1595C>A	c.(1594-1596)gCt>gAt	p.A532D	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	532	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AAGGTAAGCAGCATCCATCGA	0.398													False	0	True	13:79190301	0	T	79190301	G	T	79190301	3	4	88	1	0	0	0	0	1	0	0	0	13561	971	34	3	589	3	RNF219	13	79190301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14544	79190301	35979577	13802	21514											
RNF219	79596	broad.mit.edu	37	chr13	79190435	79190435	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctccaacagaatttgctatCgtgttcccctctgaactttc	5	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79190435C>T	ENST00000282003.6	-	6	1519	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	487	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AATTTGCTATCGTGTTCCCCT	0.363													False	0	False	13:79190435	0	T	79190435	C	T	79190435	2	4	88	1	0	0	0	0	0	0	0	1	13561	871	31	1		1	RNF219	13	79190435	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134	79190435	35979443	13803	21515											
RBM26	64062	broad.mit.edu	37	chr13	79952975	79952975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acataatgcctttaactcttTttcacttttgtctttcttta	2	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79952975T>C	ENST00000438737.2	-	2	579	c.139A>G	c.(139-141)Aaa>Gaa	p.K47E	RBM26_ENST00000267229.7_Missense_Mutation_p.K47E|RBM26_ENST00000438724.1_Missense_Mutation_p.K47E			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	47					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTTAACTCTTTTTCACTTTTG	0.299													False	0	True	13:79952975	0	C	79952975	T	C	79952975	3	2	88	1	0	0	0	0	1	0	0	0	13205	1850	64	4	2883	4	RBM26	13	79952975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	762540	79952975	35216903	13804	21516											
SLITRK1	114798	broad.mit.edu	37	chr13	84453725	84453725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggttcctcaggataaacaCgagcatgcccaccacggtga	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84453725C>T	ENST00000377084.2	-	1	2803	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	640						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGGATAAACACGAGCATGCCC	0.562													False	0	False	13:84453725	0	T	84453725	C	T	84453725	3	4	88	1	0	0	0	0	1	0	0	0	14822	536	19	1	176	1	SLITRK1	13	84453725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4500750	84453725	30716153	13805	21517											
SLITRK1	114798	broad.mit.edu	37	chr13	84454641	84454641	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggtaaactgttagctaaGggtttgttcctggagctacc	12	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84454641G>T	ENST00000377084.2	-	1	1887	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	334	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTTAGCTAAGGGTTTGTTCC	0.552													False	0	True	13:84454641	0	T	84454641	G	T	84454641	2	4	88	1	0	0	0	0	0	0	0	1	14822	987	35	3		3	SLITRK1	13	84454641	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	916	84454641	30715237	13806	21518											
SLITRK1	114798	broad.mit.edu	37	chr13	84455008	84455008	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtgcagtcccaagggTtatcctctagcaggatctcc	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84455008T>G	ENST00000377084.2	-	1	1520	c.635A>C	c.(634-636)aAc>aCc	p.N212T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	212	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCCCAAGGGTTATCCTCTAG	0.562													False	0	True	13:84455008	0	G	84455008	T	G	84455008	3	3	88	1	0	0	0	0	1	0	0	0	14822	1725	60	4	1459	4	SLITRK1	13	84455008	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	367	84455008	30714870	13807	21519											
SLITRK5	26050	broad.mit.edu	37	chr13	88328479	88328479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagggacttggacgaggtatCcaagcaggaactttgcccaa	12	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88328479C>A	ENST00000325089.6	+	2	1055	c.836C>A	c.(835-837)tCc>tAc	p.S279Y	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S38Y	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	279	LRRCT 1.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACGAGGTATCCAAGCAGGAA	0.542													False	0	False	13:88328479	0	A	88328479	C	A	88328479	3	1	88	1	0	0	0	0	1	0	0	0	14826	855	30	3	838	3	SLITRK5	13	88328479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3873471	88328479	26841399	13808	21520											
SLITRK5	26050	broad.mit.edu	37	chr13	88329152	88329152	+	Silent	SNP	G	G	A													cagtctggaacttttgacccGgtcccaaacctccagctgct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329152G>A	ENST00000325089.6	+	2	1728	c.1509G>A	c.(1507-1509)ccG>ccA	p.P503P	SLITRK5_ENST00000400028.3_Silent_p.P262P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	503						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTTTGACCCGGTCCCAAACC	0.537													False	0	True	13:88329152	0	A	88329152	G	A	88329152	2	1	88	1	0	0	0	0	0	0	0	1	14826	1103	39	1		1	SLITRK5	13	88329152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	673	88329152	26840726	13809	21521	235	2									
SLITRK5	26050	broad.mit.edu	37	chr13	88329162	88329162	+	Missense_Mutation	SNP	C	C	A													cttttgacccggtcccaaacCtccagctgctattcttgaat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329162C>A	ENST00000325089.6	+	2	1738	c.1519C>A	c.(1519-1521)Ctc>Atc	p.L507I	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L266I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	507						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGTCCCAAACCTCCAGCTGCT	0.527													False	0	False	13:88329162	0	A	88329162	C	A	88329162	3	1	88	1	0	0	0	0	1	0	0	0	14826	681	24	3	1521	3	SLITRK5	13	88329162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	88329162	26840716	13810	21522	235	2									
SLITRK5	26050	broad.mit.edu	37	chr13	88329270	88329270	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaaccacttcacctccTtgccagtgagtggagttttg	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329270T>G	ENST00000325089.6	+	2	1846	c.1627T>G	c.(1627-1629)Ttg>Gtg	p.L543V	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L302V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	543						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTCACCTCCTTGCCAGTGAG	0.512													False	0	False	13:88329270	0	G	88329270	T	G	88329270	3	3	88	1	0	0	0	0	1	0	0	0	14826	1606	56	4	1629	4	SLITRK5	13	88329270	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108	88329270	26840608	13811	21523											
SLITRK5	26050	broad.mit.edu	37	chr13	88329784	88329784	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctcctttaacatgcagtAcagcgtgtacggcggcggcg	14	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329784A>G	ENST00000325089.6	+	2	2360	c.2141A>G	c.(2140-2142)tAc>tGc	p.Y714C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.Y473C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	714						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AACATGCAGTACAGCGTGTAC	0.682													False	0	False	13:88329784	0	G	88329784	A	G	88329784	3	3	88	1	0	0	0	0	1	0	0	0	14826	391	14	4	2143	4	SLITRK5	13	88329784	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	514	88329784	26840094	13812	21524											
GPC5	2262	broad.mit.edu	37	chr13	92101141	92101141	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacgtccagctctacattaaAgtttctaatatctcgaaatg	5	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:92101141A>C	ENST00000377067.3	+	2	662	c.290A>C	c.(289-291)aAg>aCg	p.K97T		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	97						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCTACATTAAAGTTTCTAATA	0.423													False	0	True	13:92101141	0	C	92101141	A	C	92101141	3	2	88	1	0	0	0	0	1	0	0	0	6647	72	3	4	296	4	GPC5	13	92101141	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3771357	92101141	23068737	13813	21525											
GPC5	2262	broad.mit.edu	37	chr13	93518645	93518645	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcgactgaatctatgAcattcactctgataagtgtg	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:93518645A>T	ENST00000377067.3	+	8	2044	c.1672A>T	c.(1672-1674)Aca>Tca	p.T558S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	558						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGAATCTATGACATTCACTCT	0.428													False	0	False	13:93518645	0	T	93518645	A	T	93518645	3	4	88	1	0	0	0	0	1	0	0	0	6647	275	10	5	1702	5	GPC5	13	93518645	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1417504	93518645	21651233	13814	21526											
DCT	1638	broad.mit.edu	37	chr13	95092163	95092163	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgagcaccctaggcttcttCtgtgtatctcttgctgctta	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95092163C>A	ENST00000377028.5	-	8	1962	c.1549G>T	c.(1549-1551)Gaa>Taa	p.E517*	DCT_ENST00000446125.1_Nonsense_Mutation_p.E550*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	517					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TAGGCTTCTTCTGTGTATCTC	0.438													False	0	False	13:95092163	0	A	95092163	C	A	95092163	4	1	88	1	0	0	0	0	0	1	0	0	4329	922	32	3	14	3	DCT	13	95092163	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1573518	95092163	20077715	13815	21527											
DCT	1638	broad.mit.edu	37	chr13	95118886	95118886	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtccttgatgtgagaaatCtatggccctgtaggggcgtc	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95118886C>A	ENST00000377028.5	-	3	1035	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	DCT_ENST00000446125.1_Missense_Mutation_p.D208Y|DCT_ENST00000490854.1_5'UTR	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	208					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGTGAGAAATCTATGGCCCTG	0.413													False	0	False	13:95118886	0	A	95118886	C	A	95118886	3	1	88	1	0	0	0	0	1	0	0	0	4329	913	32	3	1068	3	DCT	13	95118886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26723	95118886	20050992	13816	21528											
DCT	1638	broad.mit.edu	37	chr13	95131483	95131483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagcccaagcaactgagCagaaacccccaccaaagggg	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95131483C>T	ENST00000377028.5	-	1	440	c.27G>A	c.(25-27)ctG>ctA	p.L9L	DCT_ENST00000446125.1_Silent_p.L9L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	9					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGCAACTGAGCAGAAACCCCC	0.527													False	0	False	13:95131483	0	T	95131483	C	T	95131483	2	4	88	1	0	0	0	0	0	0	0	1	4329	697	25	2		2	DCT	13	95131483	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12597	95131483	20038395	13817	21529											
DCT	1638	broad.mit.edu	37	chr13	95131562	95131562	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactttccttgtctctgtcGtacttttctccttatcttct	3	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95131562G>A	ENST00000377028.5	-	0	361				DCT_ENST00000446125.1_De_novo_Start_InFrame	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase						epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		tgtctctgtcgtacttttctc	0.388													False	0	False	13:95131562	0	A	95131562	G	A	95131562	1	1	88	1	0	0	0	0	0	0	0	0	4329	1160	40	1		1	DCT	13	95131562	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	95131562	20038316	13818	21530											
ABCC4	10257	broad.mit.edu	37	chr13	95735417	95735417	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tagattccaggcgcttcacaTctcttgacgtttccaaaaaa	6	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95735417T>A	ENST00000376887.4	-	21	2777	c.2663A>T	c.(2662-2664)gAt>gTt	p.D888V	ABCC4_ENST00000412704.1_Missense_Mutation_p.D841V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	888	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GCGCTTCACATCTCTTGACGT	0.443													False	0	False	13:95735417	0	A	95735417	T	A	95735417	3	1	88	1	0	0	0	0	1	0	0	0	55	1435	50	5	1358	5	ABCC4	13	95735417	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	603855	95735417	19434461	13819	21531											
ABCC4	10257	broad.mit.edu	37	chr13	95813533	95813533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgaagagttaacaaggaCgtagaataccaatagagatc	10	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95813533C>T	ENST00000376887.4	-	19	2479	c.2365G>A	c.(2365-2367)Gtc>Atc	p.V789I	ABCC4_ENST00000431522.1_Missense_Mutation_p.V789I|ABCC4_ENST00000536256.1_Missense_Mutation_p.V714I|ABCC4_ENST00000412704.1_Missense_Mutation_p.V742I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	789	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTAACAAGGACGTAGAATACC	0.353													False	0	False	13:95813533	0	T	95813533	C	T	95813533	3	4	88	1	0	0	0	0	1	0	0	0	55	536	19	1	1713	1	ABCC4	13	95813533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78116	95813533	19356345	13820	21532											
ABCC4	10257	broad.mit.edu	37	chr13	95886992	95886992	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccgtggcataggcgtAcgctgtgttcaaagccacag	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95886992A>G	ENST00000376887.4	-	4	517	c.403T>C	c.(403-405)Tac>Cac	p.Y135H	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.Y135H|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000412704.1_Missense_Mutation_p.Y135H	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	135	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.Y135H(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GCATAGGCGTACGCTGTGTTC	0.393													False	0	False	13:95886992	0	G	95886992	A	G	95886992	3	3	88	1	0	0	0	0	1	0	0	0	55	391	14	4	3735	4	ABCC4	13	95886992	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73459	95886992	19282886	13821	21533											
DZIP1	22873	broad.mit.edu	37	chr13	96258277	96258277	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catgcaccattggcagacttGatttagtttccaaagtgtgc	9	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96258277G>A	ENST00000347108.3	-	12	1889	c.1457C>T	c.(1456-1458)tCa>tTa	p.S486L	DZIP1_ENST00000361396.2_Missense_Mutation_p.S467L|DZIP1_ENST00000376829.2_Missense_Mutation_p.S486L|DZIP1_ENST00000361156.3_Missense_Mutation_p.S467L			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	486					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TGGCAGACTTGATTTAGTTTC	0.398													False	0	False	13:96258277	0	A	96258277	G	A	96258277	3	1	88	1	0	0	0	0	1	0	0	0	4893	1294	45	2	1186	2	DZIP1	13	96258277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	371285	96258277	18911601	13822	21534											
DZIP1	22873	broad.mit.edu	37	chr13	96285517	96285517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattttcttcagtgtggcggCgttgaatgtgactttgtaga	12	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96285517C>A	ENST00000347108.3	-	4	1088	c.656G>T	c.(655-657)cGc>cTc	p.R219L	DZIP1_ENST00000361396.2_Missense_Mutation_p.R219L|DZIP1_ENST00000376829.2_Missense_Mutation_p.R219L|DZIP1_ENST00000361156.3_Missense_Mutation_p.R219L			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	219					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGTGTGGCGGCGTTGAATGTG	0.408													False	0	False	13:96285517	0	A	96285517	C	A	96285517	3	1	88	1	0	0	0	0	1	0	0	0	4893	768	27	3	2019	3	DZIP1	13	96285517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27240	96285517	18884361	13823	21535											
DZIP1	22873	broad.mit.edu	37	chr13	96293679	96293679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcttcttgctctgctcgCcgtcgcagtggctcaggcgc	13	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96293679C>T	ENST00000347108.3	-	3	899	c.467G>A	c.(466-468)gGc>gAc	p.G156D	DZIP1_ENST00000361396.2_Missense_Mutation_p.G156D|DZIP1_ENST00000376829.2_Missense_Mutation_p.G156D|DZIP1_ENST00000361156.3_Missense_Mutation_p.G156D|DZIP1_ENST00000466027.1_5'UTR			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	156					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GCTCTGCTCGCCGTCGCAGTG	0.607													False	0	False	13:96293679	0	T	96293679	C	T	96293679	3	4	88	1	0	0	0	0	1	0	0	0	4893	739	26	2	2212	2	DZIP1	13	96293679	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8162	96293679	18876199	13824	21536											
DNAJC3	5611	broad.mit.edu	37	chr13	96409944	96409944	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaggaagcacagtctcAacttataaaatctgatgaaa	7	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96409944A>C	ENST00000602402.1	+	5	557	c.440A>C	c.(439-441)cAa>cCa	p.Q147P	DNAJC3_ENST00000376795.6_Intron	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	147					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GCACAGTCTCAACTTATAAAA	0.343													False	0	False	13:96409944	0	C	96409944	A	C	96409944	3	2	88	1	0	0	0	0	1	0	0	0	4677	130	5	4	458	4	DNAJC3	13	96409944	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116265	96409944	18759934	13825	21537											
DNAJC3	5611	broad.mit.edu	37	chr13	96443261	96443261	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagctcaggcggaccatttAgatttaaattccacttcaat	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96443261A>G	ENST00000602402.1	+	12	1609	c.1492A>G	c.(1492-1494)Aga>Gga	p.R498G	DNAJC3_ENST00000376795.6_Missense_Mutation_p.R447G	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	498					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			CGGACCATTTAGATTTAAATT	0.418													False	0	True	13:96443261	0	G	96443261	A	G	96443261	3	3	88	1	0	0	0	0	1	0	0	0	4677	412	15	4	1538	4	DNAJC3	13	96443261	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33317	96443261	18726617	13826	21538											
MBNL2	10150	broad.mit.edu	37	chr13	97928576	97928576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagaggaacatgctcacgCtctgatgaagaatgcaaatt	9	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:97928576C>T	ENST00000345429.6	+	2	868	c.87C>T	c.(85-87)cgC>cgT	p.R29R	MBNL2_ENST00000445661.2_Silent_p.R29R|MBNL2_ENST00000376673.3_Silent_p.R29R|MBNL2_ENST00000343600.4_Silent_p.R29R|MBNL2_ENST00000397601.1_Silent_p.R29R	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	29					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CATGCTCACGCTCTGATGAAG	0.423													False	0	False	13:97928576	0	T	97928576	C	T	97928576	2	4	88	1	0	0	0	0	0	0	0	1	9421	784	28	2		2	MBNL2	13	97928576	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1485315	97928576	17241302	13827	21539											
MBNL2	10150	broad.mit.edu	37	chr13	98043610	98043610	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagcagaaacggaatggaAtgccaagaatctgcattgag	11	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98043610A>G	ENST00000376673.3	+	8	1810	c.1029A>G	c.(1027-1029)gaA>gaG	p.E343E	MBNL2_ENST00000345429.6_3'UTR|MBNL2_ENST00000445661.2_Silent_p.E176E|MBNL2_ENST00000397601.1_Silent_p.E331E|MBNL2_ENST00000343600.4_Silent_p.E331E			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	343					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			ACGGAATGGAATGCCAAGAAT	0.338													False	0	True	13:98043610	0	G	98043610	A	G	98043610	2	3	88	1	0	0	0	0	0	0	0	1	9421	98	4	4		4	MBNL2	13	98043610	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115034	98043610	17126268	13828	21540											
RAP2A	5911	broad.mit.edu	37	chr13	98086853	98086853	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggacttctaccgcaaggaGatcgaggtggattcgtcgcc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98086853G>A	ENST00000245304.4	+	1	378	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	43					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			ACCGCAAGGAGATCGAGGTGG	0.627													False	0	False	13:98086853	0	A	98086853	G	A	98086853	2	1	88	1	0	0	0	0	0	0	0	1	13119	933	33	2		2	RAP2A	13	98086853	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43243	98086853	17083025	13829	21541											
RNF113B	140432	broad.mit.edu	37	chr13	98828993	98828993	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgccatccccgaggaggaGttgcccatggacgtgtcctt	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98828993G>A	ENST00000267291.6	-	1	526	c.498C>T	c.(496-498)aaC>aaT	p.N166N	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	166							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCGAGGAGGAGTTGCCCATGG	0.637													False	0	True	13:98828993	0	A	98828993	G	A	98828993	2	1	88	1	0	0	0	0	0	0	0	1	13507	1020	36	2		2	RNF113B	13	98828993	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	742140	98828993	16340885	13830	21542											
RNF113B	140432	broad.mit.edu	37	chr13	98829110	98829110	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccgctggctgcacttgagGatggtcggcgtatggtgctc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98829110G>A	ENST00000267291.6	-	1	409	c.381C>T	c.(379-381)atC>atT	p.I127I	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	127							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGCACTTGAGGATGGTCGGCG	0.652													False	0	False	13:98829110	0	A	98829110	G	A	98829110	2	1	88	1	0	0	0	0	0	0	0	1	13507	1164	41	2		2	RNF113B	13	98829110	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	98829110	16340768	13831	21543											
FARP1	10160	broad.mit.edu	37	chr13	99047599	99047599	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccggggtcgcacccgagccCtgcgccgaggagaagccccg	16	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99047599C>A	ENST00000376586.2	+	13	1619	c.1283C>A	c.(1282-1284)cCt>cAt	p.P428H	FARP1_ENST00000319562.6_Missense_Mutation_p.P428H|FARP1_ENST00000595437.1_Missense_Mutation_p.P428H			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	428					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CACCCGAGCCCTGCGCCGAGG	0.672													False	0	True	13:99047599	0	A	99047599	C	A	99047599	3	1	88	1	0	0	0	0	1	0	0	0	5716	681	24	3	1552	3	FARP1	13	99047599	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218489	99047599	16122279	13832	21544											
FARP1	10160	broad.mit.edu	37	chr13	99061637	99061637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccgagctgtctgtgaactCgcaggggggagtggcccctg	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99061637C>T	ENST00000376586.2	+	14	1796	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	FARP1_ENST00000319562.6_Missense_Mutation_p.S487L|FARP1_ENST00000595437.1_Missense_Mutation_p.S487L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	487					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCTGTGAACTCGCAGGGGGGA	0.542													False	0	False	13:99061637	0	T	99061637	C	T	99061637	3	4	88	1	0	0	0	0	1	0	0	0	5716	893	31	1	1733	1	FARP1	13	99061637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14038	99061637	16108241	13833	21545											
FARP1	10160	broad.mit.edu	37	chr13	99099020	99099020	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtgttcaagctgcactTcaagtcccacgtctactact	6	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99099020T>C	ENST00000376586.2	+	27	3434	c.3098T>C	c.(3097-3099)tTc>tCc	p.F1033S	FARP1_ENST00000319562.6_Missense_Mutation_p.F1002S|FARP1_ENST00000595437.1_Missense_Mutation_p.F1033S			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	1002					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGCTGCACTTCAAGTCCCAC	0.577													False	0	False	13:99099020	0	C	99099020	T	C	99099020	3	2	88	1	0	0	0	0	1	0	0	0	5716	1783	62	4	3326	4	FARP1	13	99099020	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37383	99099020	16070858	13834	21546											
DOCK9	23348	broad.mit.edu	37	chr13	99515346	99515346	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttttcaatcagcagaccaAacagaggcaggtagagggtg	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99515346A>C	ENST00000376460.1	-	32	3586	c.3506T>G	c.(3505-3507)tTt>tGt	p.F1169C	DOCK9_ENST00000448493.2_Missense_Mutation_p.F1181C|DOCK9_ENST00000339416.2_Missense_Mutation_p.F1170C|DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000442173.1_Missense_Mutation_p.F1169C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1170					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCAGACCAAACAGAGGCAG	0.498													False	0	True	13:99515346	0	C	99515346	A	C	99515346	3	2	88	1	0	0	0	0	1	0	0	0	4724	14	1	4	2861	4	DOCK9	13	99515346	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	416326	99515346	15654532	13835	21547											
DOCK9	23348	broad.mit.edu	37	chr13	99667822	99667822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttctttcaaaaacggtgCggatgcctttaaacagaatc	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99667822C>T	ENST00000448493.2	-	1	151	c.41G>A	c.(40-42)cGc>cAc	p.R14H	DOCK9_ENST00000339416.2_Intron			Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAAAACGGTGCGGATGCCTTT	0.403													False	0	False	13:99667822	0	T	99667822	C	T	99667822	3	4	88	1	0	0	0	0	1	0	0	0	4724	783	27	1		1	DOCK9	13	99667822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152476	99667822	15502056	13836	21548											
GPR183	1880	broad.mit.edu	37	chr13	99947758	99947758	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcagatctgagaatagcaGatgagaatgattataagtgg	12	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99947758G>T	ENST00000376414.4	-	2	725	c.642C>A	c.(640-642)atC>atA	p.I214I	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	214					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GAGAATAGCAGATGAGAATGA	0.393													False	0	False	13:99947758	0	T	99947758	G	T	99947758	2	4	88	1	0	0	0	0	0	0	0	1	6724	932	33	3		3	GPR183	13	99947758	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	279936	99947758	15222120	13837	21549											
TM9SF2	9375	broad.mit.edu	37	chr13	100193890	100193890	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttacggacactgcacaaagAtattgctagatataatcaga	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100193890A>C	ENST00000376387.4	+	9	1176	c.986A>C	c.(985-987)gAt>gCt	p.D329A		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	329					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTGCACAAAGATATTGCTAGA	0.353													False	0	False	13:100193890	0	C	100193890	A	C	100193890	3	2	88	1	0	0	0	0	1	0	0	0	16060	333	12	4	1020	4	TM9SF2	13	100193890	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	246132	100193890	14975988	13838	21550											
ZIC5	85416	broad.mit.edu	37	chr13	100617847	100617847	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagggggcgcccactggagtCcccactgatgagtaaccaag	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100617847C>A	ENST00000267294.4	-	2	2009	c.1776G>T	c.(1774-1776)ggG>ggT	p.G592G		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	592					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACTGGAGTCCCCACTGATG	0.577													False	0	True	13:100617847	0	A	100617847	C	A	100617847	2	1	88	1	0	0	0	0	0	0	0	1	17765	842	30	3		3	ZIC5	13	100617847	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423957	100617847	14552031	13839	21551											
ZIC2	7546	broad.mit.edu	37	chr13	100635292	100635292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaactggtcaaccacatccGcgtgcacacaggcgagaaac	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100635292G>A	ENST00000376335.3	+	1	1267	c.974G>A	c.(973-975)cGc>cAc	p.R325H		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	325			R -> L (in HPE5).|R -> S (in HPE5).		brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AACCACATCCGCGTGCACACA	0.617													False	0	False	13:100635292	0	A	100635292	G	A	100635292	3	1	88	1	0	0	0	0	1	0	0	0	17762	1087	38	1	976	1	ZIC2	13	100635292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17445	100635292	14534586	13840	21552											
ZIC2	7546	broad.mit.edu	37	chr13	100637299	100637299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtccacacctccgataagcCctatctctgcaagatgtgcg	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100637299C>A	ENST00000376335.3	+	2	1468	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	392					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCGATAAGCCCTATCTCTGC	0.632													False	0	True	13:100637299	0	A	100637299	C	A	100637299	3	1	88	1	0	0	0	0	1	0	0	0	17762	623	22	3	1181	3	ZIC2	13	100637299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2007	100637299	14532579	13841	21553											
ZIC2	7546	broad.mit.edu	37	chr13	100637318	100637318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctatctctgcaagatgtgCgacaagtcctacacgcaccc	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100637318C>T	ENST00000376335.3	+	2	1487	c.1194C>T	c.(1192-1194)tgC>tgT	p.C398C	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	398					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAAGATGTGCGACAAGTCCT	0.647													False	0	False	13:100637318	0	T	100637318	C	T	100637318	2	4	88	1	0	0	0	0	0	0	0	1	17762	776	27	1		1	ZIC2	13	100637318	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	100637318	14532560	13842	21554											
TMTC4	84899	broad.mit.edu	37	chr13	101257327	101257327	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tagttcctgatgccgtggggTcaagctgcaaggagatttca	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101257327T>C	ENST00000342624.5	-	19	2462	c.2204A>G	c.(2203-2205)gAc>gGc	p.D735G	TMTC4_ENST00000376234.3_Missense_Mutation_p.D716G|TMTC4_ENST00000328767.5_Missense_Mutation_p.D605G	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	716						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCCGTGGGGTCAAGCTGCAA	0.433													False	0	True	13:101257327	0	C	101257327	T	C	101257327	3	2	88	1	0	0	0	0	1	0	0	0	16345	1667	58	4	82	4	TMTC4	13	101257327	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	620009	101257327	13912551	13843	21555											
TMTC4	84899	broad.mit.edu	37	chr13	101287360	101287360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctggggaggtagaggacaCgctctgcgaccacgaagccc	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101287360C>T	ENST00000342624.5	-	11	1550	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Missense_Mutation_p.R412H|TMTC4_ENST00000328767.5_Missense_Mutation_p.R301H	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	412						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTAGAGGACACGCTCTGCGAC	0.527													False	0	False	13:101287360	0	T	101287360	C	T	101287360	3	4	88	1	0	0	0	0	1	0	0	0	16345	536	19	1	1026	1	TMTC4	13	101287360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30033	101287360	13882518	13844	21556											
TMTC4	84899	broad.mit.edu	37	chr13	101288908	101288908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaatgagggggatgcagccCattgaccaatcaaaacacag	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101288908C>T	ENST00000342624.5	-	10	1338	c.1080G>A	c.(1078-1080)atG>atA	p.M360I	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Missense_Mutation_p.M341I|TMTC4_ENST00000328767.5_Missense_Mutation_p.M230I	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	341						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGATGCAGCCCATTGACCAAT	0.502													False	0	True	13:101288908	0	T	101288908	C	T	101288908	3	4	88	1	0	0	0	0	1	0	0	0	16345	594	21	2	1242	2	TMTC4	13	101288908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1548	101288908	13880970	13845	21557											
NALCN	259232	broad.mit.edu	37	chr13	101710303	101710303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctacctgagggcagacGccactgcccaaatttcctct	9	15	1	2	rs143587652		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101710303G>A	ENST00000251127.6	-	43	5092	c.5011C>T	c.(5011-5013)Cgt>Tgt	p.R1671C	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1671						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGGGCAGACGCCACTGCCCA	0.542													False	0	False	13:101710303	0	A	101710303	G	A	101710303	3	1	88	1	0	0	0	0	1	0	0	0	10215	1087	38	1	213	1	NALCN	13	101710303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421395	101710303	13459575	13846	21558											
NALCN	259232	broad.mit.edu	37	chr13	101714357	101714357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacttcttgagccacatgCggatggtctgcttggccacc	12	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101714357C>T	ENST00000251127.6	-	41	4799	c.4718G>A	c.(4717-4719)cGc>cAc	p.R1573H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1573						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGCCACATGCGGATGGTCTG	0.637													False	0	False	13:101714357	0	T	101714357	C	T	101714357	3	4	88	1	0	0	0	0	1	0	0	0	10215	768	27	1	514	1	NALCN	13	101714357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4054	101714357	13455521	13847	21559											
NALCN	259232	broad.mit.edu	37	chr13	101735213	101735213	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgttgccaaaggtacggTcaccgggtcctcgacgtccc	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101735213T>C	ENST00000251127.6	-	33	3793	c.3712A>G	c.(3712-3714)Acc>Gcc	p.T1238A		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1238						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGGTACGGTCACCGGGTCC	0.522													False	0	False	13:101735213	0	C	101735213	T	C	101735213	3	2	88	1	0	0	0	0	1	0	0	0	10215	1667	58	4	1552	4	NALCN	13	101735213	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20856	101735213	13434665	13848	21560											
NALCN	259232	broad.mit.edu	37	chr13	101777028	101777028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctgaaaacagacttgCgaagctgaaaatgataagag	11	5	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101777028C>T	ENST00000251127.6	-	18	2204	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	708						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACAGACTTGCGAAGCTGAAA	0.328													False	0	False	13:101777028	0	T	101777028	C	T	101777028	3	4	88	1	0	0	0	0	1	0	0	0	10215	768	27	1	3201	1	NALCN	13	101777028	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41815	101777028	13392850	13849	21561											
FGF14	2259	broad.mit.edu	37	chr13	102568812	102568812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccacagaccttggcgccGcaacctgcgcttcttgaggc	10	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:102568812G>A	ENST00000376143.4	-	1	183	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	62					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTTGGCGCCGCAACCTGCGC	0.652													False	0	False	13:102568812	0	A	102568812	G	A	102568812	3	1	88	1	0	0	0	0	1	0	0	0	5883	1086	38	1	579	1	FGF14	13	102568812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	791784	102568812	12601066	13850	21562											
FGF14	2259	broad.mit.edu	37	chr13	102568890	102568890	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gccgttgcagagcccgcggtTcttgctggggctgctccgcc	15	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:102568890T>G	ENST00000376143.4	-	1	105	c.106A>C	c.(106-108)Aac>Cac	p.N36H	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	36					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCCCGCGGTTCTTGCTGGGG	0.672													False	0	False	13:102568890	0	G	102568890	T	G	102568890	3	3	88	1	0	0	0	0	1	0	0	0	5883	1783	62	4	657	4	FGF14	13	102568890	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78	102568890	12600988	13851	21563											
TPP2	7174	broad.mit.edu	37	chr13	103249462	103249462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaaggagaccggagccgcctCcttcctctgccgctacccgg	12	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103249462C>A	ENST00000376052.3	+	1	90	c.74C>A	c.(73-75)tCc>tAc	p.S25Y	TPP2_ENST00000376065.4_Missense_Mutation_p.S25Y			P29144	TPP2_HUMAN	tripeptidyl peptidase II	25					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAGCCGCCTCCTTCCTCTGC	0.682													False	0	True	13:103249462	0	A	103249462	C	A	103249462	3	1	88	1	0	0	0	0	1	0	0	0	16495	855	30	3	76	3	TPP2	13	103249462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	680572	103249462	11920416	13852	21564											
TPP2	7174	broad.mit.edu	37	chr13	103288009	103288009	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaacactgcagtgaaggCtgacaatatagaagtatttg	10	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103288009C>A	ENST00000376052.3	+	12	1482	c.1466C>A	c.(1465-1467)gCt>gAt	p.A489D	TPP2_ENST00000376065.4_Missense_Mutation_p.A489D			P29144	TPP2_HUMAN	tripeptidyl peptidase II	489					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAGTGAAGGCTGACAATATA	0.333													False	0	False	13:103288009	0	A	103288009	C	A	103288009	3	1	88	1	0	0	0	0	1	0	0	0	16495	797	28	3	1512	3	TPP2	13	103288009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38547	103288009	11881869	13853	21565											
KDELC1	79070	broad.mit.edu	37	chr13	103440220	103440220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taataacagaatatgtcatcGcccatgagattatttcttgc	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103440220G>A	ENST00000376004.4	-	8	1683	c.1347C>T	c.(1345-1347)ggC>ggT	p.G449G	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	449						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATATGTCATCGCCCATGAGAT	0.323													False	0	True	13:103440220	0	A	103440220	G	A	103440220	2	1	88	1	0	0	0	0	0	0	0	1	8167	1074	38	1		1	KDELC1	13	103440220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152211	103440220	11729658	13854	21566											
KDELC1	79070	broad.mit.edu	37	chr13	103441551	103441551	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taagctgctacagtgccatcGatatttatttgatacttatg	7	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103441551G>A	ENST00000376004.4	-	7	1440	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	368						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGTGCCATCGATATTTATTT	0.393													False	0	False	13:103441551	0	A	103441551	G	A	103441551	2	1	88	1	0	0	0	0	0	0	0	1	8167	1048	37	1		1	KDELC1	13	103441551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1331	103441551	11728327	13855	21567											
KDELC1	79070	broad.mit.edu	37	chr13	103450919	103450919	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttttagcccgggtccccaTatttcgctcttctccgggct	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103450919T>C	ENST00000376004.4	-	1	438	c.102A>G	c.(100-102)atA>atG	p.I34M	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	34						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CGGGTCCCCATATTTCGCTCT	0.532													False	0	False	13:103450919	0	C	103450919	T	C	103450919	3	2	88	1	0	0	0	0	1	0	0	0	8167	1396	49	4	1446	4	KDELC1	13	103450919	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9368	103450919	11718959	13856	21568											
ERCC5	2073	broad.mit.edu	37	chr13	103504492	103504492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcatttggttaaaccaagCacttaaaggagtccgggatc	10	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103504492C>T	ENST00000355739.4	+	2	1536	c.113C>T	c.(112-114)gCa>gTa	p.A38V	BIVM-ERCC5_ENST00000602836.1_Silent_p.S463S|ERCC5_ENST00000535557.1_Missense_Mutation_p.A38V	NM_000123.3	NP_000114			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTAAACCAAGCACTTAAAGGA	0.378			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	13:103504492	0	T	103504492	C	T	103504492	3	4	88	1	0	0	0	0	1	0	0	0	5248	710	25	2	119	2	ERCC5	13	103504492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53573	103504492	11665386	13857	21569											
EFNB2	1948	broad.mit.edu	37	chr13	107145730	107145730	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaggccacttcggaaccgagGatgttgttccccgaatgtcc	11	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:107145730G>T	ENST00000245323.4	-	5	809	c.660C>A	c.(658-660)atC>atA	p.I220I		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	220					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGGAACCGAGGATGTTGTTCC	0.532													False	0	False	13:107145730	0	T	107145730	G	T	107145730	2	4	88	1	0	0	0	0	0	0	0	1	4986	1164	41	3		3	EFNB2	13	107145730	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3641238	107145730	8024148	13858	21570											
ARGLU1	55082	broad.mit.edu	37	chr13	107211878	107211878	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggcttcctccacccttcGgagaacttctcgttcaattt	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:107211878G>A	ENST00000400198.3	-	2	719	c.475C>T	c.(475-477)Cga>Tga	p.R159*	ARGLU1_ENST00000375926.1_Silent_p.S8S	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	159	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCACCCTTCGGAGAACTTCT	0.478													False	0	False	13:107211878	0	A	107211878	G	A	107211878	4	1	88	1	0	0	0	0	0	1	0	0	862	1124	39	1	358	1	ARGLU1	13	107211878	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66148	107211878	7958000	13859	21571											
FAM155A	728215	broad.mit.edu	37	chr13	108518818	108518818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaaaaacaagagagatgCcagagacagtcgccatttct	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108518818C>T	ENST00000375915.2	-	1	265	c.127G>A	c.(127-129)Gca>Aca	p.A43T		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	43						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AAGAGAGATGCCAGAGACAGT	0.562													False	0	False	13:108518818	0	T	108518818	C	T	108518818	3	4	88	1	0	0	0	0	1	0	0	0	5501	739	26	2	1261	2	FAM155A	13	108518818	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1306940	108518818	6651060	13860	21572											
LIG4	3981	broad.mit.edu	37	chr13	108861083	108861083	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttgctccatgaaaccgaAgctccaaggctttaatagct	7	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861083A>G	ENST00000356922.4	-	2	2806	c.2534T>C	c.(2533-2535)cTt>cCt	p.L845P	LIG4_ENST00000442234.1_Missense_Mutation_p.L845P|LIG4_ENST00000405925.1_Missense_Mutation_p.L845P	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	845	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATGAAACCGAAGCTCCAAGGC	0.403								Non-homologous end-joining					False	0	False	13:108861083	0	G	108861083	A	G	108861083	3	3	88	1	0	0	0	0	1	0	0	0	8835	72	3	4	205	4	LIG4	13	108861083	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	342265	108861083	6308795	13861	21573											
LIG4	3981	broad.mit.edu	37	chr13	108861101	108861101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagctccaaggctttaataGctaaccttgtcccctcattt	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861101G>T	ENST00000356922.4	-	2	2788	c.2516C>A	c.(2515-2517)gCt>gAt	p.A839D	LIG4_ENST00000442234.1_Missense_Mutation_p.A839D|LIG4_ENST00000405925.1_Missense_Mutation_p.A839D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	839	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GGCTTTAATAGCTAACCTTGT	0.423								Non-homologous end-joining					False	0	False	13:108861101	0	T	108861101	G	T	108861101	3	4	88	1	0	0	0	0	1	0	0	0	8835	971	34	3	223	3	LIG4	13	108861101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	108861101	6308777	13862	21574											
LIG4	3981	broad.mit.edu	37	chr13	108861894	108861894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattcgtggaaaacgcaaggTgcagccagttttatacatat	9	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861894T>C	ENST00000356922.4	-	2	1995	c.1723A>G	c.(1723-1725)Acc>Gcc	p.T575A	LIG4_ENST00000442234.1_Missense_Mutation_p.T575A|LIG4_ENST00000405925.1_Missense_Mutation_p.T575A	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	575					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAACGCAAGGTGCAGCCAGTT	0.438								Non-homologous end-joining					False	0	False	13:108861894	0	C	108861894	T	C	108861894	3	2	88	1	0	0	0	0	1	0	0	0	8835	1696	59	4	1016	4	LIG4	13	108861894	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	793	108861894	6307984	13863	21575											
LIG4	3981	broad.mit.edu	37	chr13	108862042	108862042	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctatgaaaaggcttccaAtacttggccaatttcaaacc	5	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108862042A>C	ENST00000356922.4	-	2	1847	c.1575T>G	c.(1573-1575)taT>taG	p.Y525*	LIG4_ENST00000442234.1_Nonsense_Mutation_p.Y525*|LIG4_ENST00000405925.1_Nonsense_Mutation_p.Y525*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	525					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAGGCTTCCAATACTTGGCCA	0.428								Non-homologous end-joining					False	0	False	13:108862042	0	C	108862042	A	C	108862042	4	2	88	1	0	0	0	0	0	1	0	0	8835	108	4	4	1164	4	LIG4	13	108862042	Nonsense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	148	108862042	6307836	13864	21576											
LIG4	3981	broad.mit.edu	37	chr13	108863228	108863228	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttggcttcaacacaaaaTatgcaatcattgcaaagtct	5	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108863228T>C	ENST00000356922.4	-	2	661	c.389A>G	c.(388-390)tAt>tGt	p.Y130C	LIG4_ENST00000442234.1_Missense_Mutation_p.Y130C|LIG4_ENST00000405925.1_Missense_Mutation_p.Y130C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	130					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAACACAAAATATGCAATCAT	0.373								Non-homologous end-joining					False	0	True	13:108863228	0	C	108863228	T	C	108863228	3	2	88	1	0	0	0	0	1	0	0	0	8835	1406	49	4	2350	4	LIG4	13	108863228	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1186	108863228	6306650	13865	21577											
ABHD13	84945	broad.mit.edu	37	chr13	108881891	108881891	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttgatacgatacactggaGacaattcaccctattcccca	5	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108881891G>A	ENST00000375898.3	+	2	626	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	109						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATACACTGGAGACAATTCACC	0.383													False	0	False	13:108881891	0	A	108881891	G	A	108881891	3	1	88	1	0	0	0	0	1	0	0	0	78	942	33	2	327	2	ABHD13	13	108881891	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18663	108881891	6287987	13866	21578											
MYO16	23026	broad.mit.edu	37	chr13	109475617	109475617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacgatcttcccgtactgtCgagtaagctgtaagtgtctt	9	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109475617C>T	ENST00000356711.2	+	9	1148	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	MYO16_ENST00000357550.2_Missense_Mutation_p.S341L|MYO16_ENST00000251041.5_Missense_Mutation_p.S341L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	341					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.S341L(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCGTACTGTCGAGTAAGCTG	0.428													False	0	False	13:109475617	0	T	109475617	C	T	109475617	3	4	88	1	0	0	0	0	1	0	0	0	10131	893	31	1	1052	1	MYO16	13	109475617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	593726	109475617	5694261	13867	21579											
MYO16	23026	broad.mit.edu	37	chr13	109644787	109644787	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagagtttcaaaagaatgaAtttgaacaagtaagtagtct	9	3	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109644787A>C	ENST00000356711.2	+	21	2493	c.2367A>C	c.(2365-2367)gaA>gaC	p.E789D	MYO16_ENST00000357550.2_Missense_Mutation_p.E789D|MYO16_ENST00000457511.2_Missense_Mutation_p.E301D|MYO16_ENST00000251041.5_Missense_Mutation_p.E789D	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	789	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAAAGAATGAATTTGAACAAG	0.308													False	0	True	13:109644787	0	C	109644787	A	C	109644787	3	2	88	1	0	0	0	0	1	0	0	0	10131	98	4	4	2445	4	MYO16	13	109644787	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	169170	109644787	5525091	13868	21580											
MYO16	23026	broad.mit.edu	37	chr13	109817315	109817315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagaaattacttccgagaCtcaagacagaaatgcaaata	7	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109817315C>T	ENST00000356711.2	+	33	5291	c.5165C>T	c.(5164-5166)aCt>aTt	p.T1722I	MYO16_ENST00000357550.2_Missense_Mutation_p.T1722I|MYO16-AS1_ENST00000439299.1_RNA	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1722					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACTTCCGAGACTCAAGACAGA	0.323													False	0	False	13:109817315	0	T	109817315	C	T	109817315	3	4	88	1	0	0	0	0	1	0	0	0	10131	565	20	2	5291	2	MYO16	13	109817315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172528	109817315	5352563	13869	21581											
IRS2	8660	broad.mit.edu	37	chr13	110435097	110435097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcttcacgcccgacgTcgggctggccacgcgggcag	14	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110435097T>C	ENST00000375856.3	-	1	3818	c.3304A>G	c.(3304-3306)Acg>Gcg	p.T1102A		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1102					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACGCCCGACGTCGGGCTGGCC	0.701													False	0	False	13:110435097	0	C	110435097	T	C	110435097	3	2	88	1	0	0	0	0	1	0	0	0	7891	1667	58	4	720	4	IRS2	13	110435097	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	617782	110435097	4734781	13870	21582											
IRS2	8660	broad.mit.edu	37	chr13	110436549	110436549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccttgggagaggacgCggggcaggacgggcagaggc	21	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110436549C>T	ENST00000375856.3	-	1	2366	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	618					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGAGAGGACGCGGGGCAGGAC	0.692													False	0	True	13:110436549	0	T	110436549	C	T	110436549	3	4	88	1	0	0	0	0	1	0	0	0	7891	768	27	1	2172	1	IRS2	13	110436549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1452	110436549	4733329	13871	21583											
COL4A1	1282	broad.mit.edu	37	chr13	110828977	110828977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagctccacactgtacctggCtgcccaggctgtcctgcctg	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110828977C>A	ENST00000375820.4	-	35	3085	c.2964G>T	c.(2962-2964)caG>caT	p.Q988H		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	988	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGTACCTGGCTGCCCAGGCT	0.597													False	0	False	13:110828977	0	A	110828977	C	A	110828977	3	1	88	1	0	0	0	0	1	0	0	0	3712	796	28	3	2117	3	COL4A1	13	110828977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	392428	110828977	4340901	13872	21584											
COL4A1	1282	broad.mit.edu	37	chr13	110853794	110853794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaaagctaccttttgggcCtggctctcctcttggccccg	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110853794C>A	ENST00000375820.4	-	19	1196	c.1075G>T	c.(1075-1077)Ggc>Tgc	p.G359C	COL4A1_ENST00000543140.1_Missense_Mutation_p.G359C	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	359	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTTGGGCCTGGCTCTCCT	0.562													False	0	False	13:110853794	0	A	110853794	C	A	110853794	3	1	88	1	0	0	0	0	1	0	0	0	3712	681	24	3	4070	3	COL4A1	13	110853794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24817	110853794	4316084	13873	21585											
COL4A2	1284	broad.mit.edu	37	chr13	111111123	111111123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctcctctgcaggtgacGctggggaatgcagatgtaca	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111111123G>A	ENST00000360467.5	+	22	1744	c.1438G>A	c.(1438-1440)Gct>Act	p.A480T	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	480	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCAGGTGACGCTGGGGAATG	0.632													False	0	False	13:111111123	0	A	111111123	G	A	111111123	3	1	88	1	0	0	0	0	1	0	0	0	3713	1087	38	1	1520	1	COL4A2	13	111111123	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257329	111111123	4058755	13874	21586											
COL4A2	1284	broad.mit.edu	37	chr13	111118398	111118398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggtgacagacaggaggCcatccagccaggtactctgg	15	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111118398C>T	ENST00000360467.5	+	26	2333	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	676	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGACAGGAGGCCATCCAGCCA	0.493													False	0	False	13:111118398	0	T	111118398	C	T	111118398	3	4	88	1	0	0	0	0	1	0	0	0	3713	739	26	2	2125	2	COL4A2	13	111118398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7275	111118398	4051480	13875	21587											
COL4A2	1284	broad.mit.edu	37	chr13	111130421	111130421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaccttccggccagccaGgcctgtatgggcctccagga	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111130421G>T	ENST00000360467.5	+	30	2803	c.2497G>T	c.(2497-2499)Ggc>Tgc	p.G833C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	833	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CGGCCAGCCAGGCCTGTATGG	0.652													False	0	True	13:111130421	0	T	111130421	G	T	111130421	3	4	88	1	0	0	0	0	1	0	0	0	3713	1000	35	3	2611	3	COL4A2	13	111130421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12023	111130421	4039457	13876	21588											
COL4A2	1284	broad.mit.edu	37	chr13	111164356	111164356	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtctagaggacttccgcgccAcaccattcatcgaatgcaat	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111164356A>C	ENST00000360467.5	+	48	5263	c.4957A>C	c.(4957-4959)Aca>Cca	p.T1653P		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1653	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTTCCGCGCCACACCATTCAT	0.627													False	0	False	13:111164356	0	C	111164356	A	C	111164356	3	2	88	1	0	0	0	0	1	0	0	0	3713	159	6	4	5143	4	COL4A2	13	111164356	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33935	111164356	4005522	13877	21589											
CARS2	79587	broad.mit.edu	37	chr13	111329415	111329415	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtttggccgccttccacaGggcgaagtcactggcatgac	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111329415G>T	ENST00000257347.4	-	7	754	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	231					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCCTTCCACAGGGCGAAGTCA	0.617													False	0	True	13:111329415	0	T	111329415	G	T	111329415	3	4	88	1	0	0	0	0	1	0	0	0	2678	991	35	3	1039	3	CARS2	13	111329415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165059	111329415	3840463	13878	21590											
CARS2	79587	broad.mit.edu	37	chr13	111340107	111340107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcccacgagcaatgattcCttcaatgaaagaaattatct	6	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111340107C>T	ENST00000257347.4	-	5	595	c.532G>A	c.(532-534)Gga>Aga	p.G178R	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	178					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCAATGATTCCTTCAATGAAA	0.403													False	0	False	13:111340107	0	T	111340107	C	T	111340107	3	4	88	1	0	0	0	0	1	0	0	0	2678	690	24	2	1206	2	CARS2	13	111340107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10692	111340107	3829771	13879	21591											
ING1	3621	broad.mit.edu	37	chr13	111366616	111366616	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctcgctgatgcgggagatCgacgcgaaataccaaggtac	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111366616C>T	ENST00000333219.7	+	1	992	c.120C>T	c.(118-120)atC>atT	p.I40I	ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron	NM_001267728.1|NM_198219.2	NP_001254657.1|NP_937862.1	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	0					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCGGGAGATCGACGCGAAAT	0.672													False	0	False	13:111366616	0	T	111366616	C	T	111366616	2	4	88	1	0	0	0	0	0	0	0	1	7785	874	31	1		1	ING1	13	111366616	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26509	111366616	3803262	13880	21592											
ING1	3621	broad.mit.edu	37	chr13	111368056	111368056	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggttggttctcctcctggcCtccgccctccaaatcggcga	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111368056C>A	ENST00000375774.3	+	1	728	c.266C>A	c.(265-267)cCt>cAt	p.P89H	ING1_ENST00000375775.3_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	89					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCTCCTGGCCTCCGCCCTCC	0.697													False	0	False	13:111368056	0	A	111368056	C	A	111368056	3	1	88	1	0	0	0	0	1	0	0	0	7785	681	24	3	416	3	ING1	13	111368056	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1440	111368056	3801822	13881	21593											
ARHGEF7	8874	broad.mit.edu	37	chr13	111896285	111896285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagactgtgctttcaacgTacctacggccattgcagacc	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111896285T>C	ENST00000375741.2	+	8	1139	c.889T>C	c.(889-891)Tac>Cac	p.Y297H	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y204H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Y276H|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y119H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.Y41H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Y247H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y194H|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.Y119H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	297	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCTTTCAACGTACCTACGGCC	0.323													False	0	False	13:111896285	0	C	111896285	T	C	111896285	3	2	88	1	0	0	0	0	1	0	0	0	913	1638	57	4	919	4	ARHGEF7	13	111896285	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	528229	111896285	3273593	13882	21594											
ARHGEF7	8874	broad.mit.edu	37	chr13	111953130	111953130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctccacaagttttgcttCcagaagaagagaaaattata	7	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111953130C>T	ENST00000218789.5	+	19	2373	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P652S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P567S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P567S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P642S			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	398					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGTTTTGCTTCCAGAAGAAGA	0.353													False	0	False	13:111953130	0	T	111953130	C	T	111953130	3	4	88	1	0	0	0	0	1	0	0	0	913	855	30	2	2530	2	ARHGEF7	13	111953130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56845	111953130	3216748	13883	21595											
TUBGCP3	10426	broad.mit.edu	37	chr13	113174253	113174253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggactgtcaaactgtgCgttggtggctctgacagcgg	14	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113174253C>T	ENST00000261965.3	-	15	2014	c.1828G>A	c.(1828-1830)Gca>Aca	p.A610T	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.A610T	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	610					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	p.A610T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TCAAACTGTGCGTTGGTGGCT	0.537													False	0	False	13:113174253	0	T	113174253	C	T	113174253	3	4	88	1	0	0	0	0	1	0	0	0	16851	768	27	1	927	1	TUBGCP3	13	113174253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1221123	113174253	1995625	13884	21596											
C13orf35	400165	broad.mit.edu	37	chr13	113333706	113333706	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgttaggatgaactcaccaGaggcgaggctctgcgttgct	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113333706G>T	ENST00000356049.1	+	2	771	c.13G>T	c.(13-15)Gag>Tag	p.E5*		NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN	chromosome 13 open reading frame 35	5										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			GAACTCACCAGAGGCGAGGCT	0.557													False	0	True	13:113333706	0	T	113333706	G	T	113333706	4	4	88	1	0	0	0	0	0	1	0	0	1738	943	33	3	15	3	C13orf35	13	113333706	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159453	113333706	1836172	13885	21597											
ATP11A	23250	broad.mit.edu	37	chr13	113439559	113439559	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agatacccagacaacaggatCgtctcgtccaaggtaacttg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113439559C>T	ENST00000487903.1	+	2	238	c.150C>T	c.(148-150)atC>atT	p.I50I	ATP11A_ENST00000283558.8_Silent_p.I50I|ATP11A_ENST00000375645.3_Silent_p.I50I|ATP11A_ENST00000375630.2_Silent_p.I50I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	50					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACAACAGGATCGTCTCGTCCA	0.552													False	0	True	13:113439559	0	T	113439559	C	T	113439559	2	4	88	1	0	0	0	0	0	0	0	1	1123	874	31	1		1	ATP11A	13	113439559	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105853	113439559	1730319	13886	21598											
ATP11A	23250	broad.mit.edu	37	chr13	113478723	113478723	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaatcaaaatctcagaagCgatctgccgtggaaaagtaa	8	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113478723C>T	ENST00000487903.1	+	10	944	c.856C>T	c.(856-858)Cga>Tga	p.R286*	ATP11A_ENST00000283558.8_Nonsense_Mutation_p.R286*|ATP11A_ENST00000375645.3_Nonsense_Mutation_p.R286*|ATP11A_ENST00000375630.2_Nonsense_Mutation_p.R286*			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	286					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCTCAGAAGCGATCTGCCGT	0.458													False	0	False	13:113478723	0	T	113478723	C	T	113478723	4	4	88	1	0	0	0	0	0	1	0	0	1123	760	27	1	894	1	ATP11A	13	113478723	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39164	113478723	1691155	13887	21599											
ATP11A	23250	broad.mit.edu	37	chr13	113496682	113496682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatccgagccagagtggagCgtaacgcagtggtgagagcc	16	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113496682C>T	ENST00000487903.1	+	17	1886	c.1798C>T	c.(1798-1800)Cgt>Tgt	p.R600C	ATP11A_ENST00000283558.8_Missense_Mutation_p.R600C|ATP11A_ENST00000375645.3_Missense_Mutation_p.R600C|ATP11A_ENST00000375630.2_Missense_Mutation_p.R600C			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	600					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAGAGTGGAGCGTAACGCAGT	0.532													False	0	False	13:113496682	0	T	113496682	C	T	113496682	3	4	88	1	0	0	0	0	1	0	0	0	1123	768	27	1	1864	1	ATP11A	13	113496682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17959	113496682	1673196	13888	21600											
MCF2L	23263	broad.mit.edu	37	chr13	113634067	113634067	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaactgcagggcgctcgaGgccaggtgagatacaatggg	18	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113634067G>T	ENST00000375601.3	+	1	413	c.86G>T	c.(85-87)aGg>aTg	p.R29M	MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000421756.1_Missense_Mutation_p.R29M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGGCGCTCGAGGCCAGGTGAG	0.677													False	0	False	13:113634067	0	T	113634067	G	T	113634067	3	4	88	1	0	0	0	0	1	0	0	0	9446	1000	35	3	342	3	MCF2L	13	113634067	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137385	113634067	1535811	13889	21601											
MCF2L	23263	broad.mit.edu	37	chr13	113740496	113740496	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacctgcaggaggcgctgaGctccatcctgggcatcctga	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113740496G>T	ENST00000397030.1	+	21	2442	c.2405G>T	c.(2404-2406)aGc>aTc	p.S802I	MCF2L_ENST00000442652.2_Missense_Mutation_p.S799I|MCF2L_ENST00000375601.3_Missense_Mutation_p.S773I|MCF2L_ENST00000375597.4_Missense_Mutation_p.S767I|MCF2L_ENST00000375604.2_Missense_Mutation_p.S826I|MCF2L_ENST00000375608.3_Missense_Mutation_p.S799I|MCF2L_ENST00000535094.2_Missense_Mutation_p.S769I|MCF2L_ENST00000423482.2_Missense_Mutation_p.S767I|MCF2L_ENST00000434480.2_Missense_Mutation_p.S775I|MCF2L_ENST00000421756.1_Missense_Mutation_p.S773I			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	799	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAGGCGCTGAGCTCCATCCTG	0.632													False	0	False	13:113740496	0	T	113740496	G	T	113740496	3	4	88	1	0	0	0	0	1	0	0	0	9446	971	34	3	2654	3	MCF2L	13	113740496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106429	113740496	1429382	13890	21602											
F10	2159	broad.mit.edu	37	chr13	113803401	113803401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcctgcctccccgagcGtgactgggccgagtccacgc	13	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803401G>A	ENST00000375559.3	+	8	1075	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	346	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCCCGAGCGTGACTGGGCC	0.642													False	0	False	13:113803401	0	A	113803401	G	A	113803401	3	1	88	1	0	0	0	0	1	0	0	0	5369	1145	40	1	1067	1	F10	13	113803401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62905	113803401	1366477	13891	21603											
F10	2159	broad.mit.edu	37	chr13	113803648	113803648	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacgtcacccgcttcaaGgacacctacttcgtgacagg	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803648G>T	ENST00000375559.3	+	8	1322	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	428	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCGCTTCAAGGACACCTACT	0.612													False	0	False	13:113803648	0	T	113803648	G	T	113803648	3	4	88	1	0	0	0	0	1	0	0	0	5369	991	35	3	1314	3	F10	13	113803648	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247	113803648	1366230	13892	21604											
F10	2159	broad.mit.edu	37	chr13	113803779	113803779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgaaaaccaggggcttgcCcaaggccaagagccatgccc	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803779C>A	ENST00000375559.3	+	8	1453	c.1415C>A	c.(1414-1416)cCc>cAc	p.P472H	F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	472					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGGCTTGCCCAAGGCCAAG	0.582													False	0	True	13:113803779	0	A	113803779	C	A	113803779	3	1	88	1	0	0	0	0	1	0	0	0	5369	623	22	3	1445	3	F10	13	113803779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131	113803779	1366099	13893	21605											
PROZ	8858	broad.mit.edu	37	chr13	113813025	113813025	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtcctggtcctcgccctCcatcgtgtggagccctcagg	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113813025C>T	ENST00000342783.4	+	1	58	c.51C>T	c.(49-51)ctC>ctT	p.L17L	PROZ_ENST00000375547.2_Silent_p.L17L	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	17					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCCTCGCCCTCCATCGTGTGG	0.602													False	0	False	13:113813025	0	T	113813025	C	T	113813025	2	4	88	1	0	0	0	0	0	0	0	1	12638	842	30	2		2	PROZ	13	113813025	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9246	113813025	1356853	13894	21606											
LAMP1	3916	broad.mit.edu	37	chr13	113975904	113975904	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgccaacggctccctgCgagcgctgcaggccacagtc	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113975904C>T	ENST00000332556.4	+	8	1170	c.976C>T	c.(976-978)Cga>Tga	p.R326*	LAMP1_ENST00000397181.3_Nonsense_Mutation_p.R273*	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	326	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CGGCTCCCTGCGAGCGCTGCA	0.602													False	0	False	13:113975904	0	T	113975904	C	T	113975904	4	4	88	1	0	0	0	0	0	1	0	0	8668	760	27	1	1006	1	LAMP1	13	113975904	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162879	113975904	1193974	13895	21607											
GRTP1	79774	broad.mit.edu	37	chr13	113980393	113980393	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcaggcccagcatggcCgggctgtagtaatctgccag	13	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113980393C>T	ENST00000375430.4	-	6	622	c.576G>A	c.(574-576)ccG>ccA	p.P192P	GRTP1_ENST00000375431.4_Silent_p.P192P|GRTP1_ENST00000326039.3_Silent_p.P114P			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	192	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CCAGCATGGCCGGGCTGTAGT	0.632													False	0	True	13:113980393	0	T	113980393	C	T	113980393	2	4	88	1	0	0	0	0	0	0	0	1	6857	639	23	1		1	GRTP1	13	113980393	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4489	113980393	1189485	13896	21608											
TMCO3	55002	broad.mit.edu	37	chr13	114156189	114156189	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttcaggactaaatagTattaaggtaagaacaaaatt	8	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114156189T>C	ENST00000434316.2	+	5	1298	c.939T>C	c.(937-939)agT>agC	p.S313S	TMCO3_ENST00000375391.1_Silent_p.S313S|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	313						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GACTAAATAGTATTAAGGTAA	0.343													False	0	False	13:114156189	0	C	114156189	T	C	114156189	2	2	88	1	0	0	0	0	0	0	0	1	16079	1635	57	4		4	TMCO3	13	114156189	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	175796	114156189	1013689	13897	21609											
TFDP1	7027	broad.mit.edu	37	chr13	114288234	114288234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaaacataagacggcgCgtctacgatgccttaaacgt	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114288234C>T	ENST00000375370.5	+	7	716	c.504C>T	c.(502-504)cgC>cgT	p.R168R	TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_Silent_p.R73R|TFDP1_ENST00000544902.1_Silent_p.R73R	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	168					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TAAGACGGCGCGTCTACGATG	0.488										TSP Lung(29;0.18)			False	0	False	13:114288234	0	T	114288234	C	T	114288234	2	4	88	1	0	0	0	0	0	0	0	1	15879	755	27	1		1	TFDP1	13	114288234	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132045	114288234	881644	13898	21610											
GRK1	6011	broad.mit.edu	37	chr13	114321980	114321980	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctctggaaagacatcgaGgactatgacacggcagacaa	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114321980G>T	ENST00000335678.6	+	1	511	c.279G>T	c.(277-279)gaG>gaT	p.E93D		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	93	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			AAGACATCGAGGACTATGACA	0.587													False	0	False	13:114321980	0	T	114321980	G	T	114321980	3	4	88	1	0	0	0	0	1	0	0	0	6837	991	35	3	281	3	GRK1	13	114321980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33746	114321980	847898	13899	21611											
GAS6	2621	broad.mit.edu	37	chr13	114526473	114526473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgggcggatgtgagccaCgacttctacttcccaggttg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114526473C>T	ENST00000357389.3	-	13	1809	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	GAS6_ENST00000327773.6_Missense_Mutation_p.V510M|GAS6_ENST00000355761.4_Missense_Mutation_p.V456M|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Missense_Mutation_p.V211M|GAS6_ENST00000450766.1_Missense_Mutation_p.V237M			Q14393	GAS6_HUMAN	growth arrest-specific 6	553	Laminin G-like 2.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ATGTGAGCCACGACTTCTACT	0.607													False	0	False	13:114526473	0	T	114526473	C	T	114526473	3	4	88	1	0	0	0	0	1	0	0	0	6292	536	19	1	520	1	GAS6	13	114526473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204493	114526473	643405	13900	21612											
GAS6	2621	broad.mit.edu	37	chr13	114530064	114530064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgtgttcactttcaccGtttcctggatggtggtgtct	10	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114530064G>A	ENST00000357389.3	-	12	1663	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	GAS6_ENST00000327773.6_Missense_Mutation_p.T461M|GAS6_ENST00000355761.4_Missense_Mutation_p.T407M|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Missense_Mutation_p.T162M|GAS6_ENST00000450766.1_Missense_Mutation_p.T188M			Q14393	GAS6_HUMAN	growth arrest-specific 6	504	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CACTTTCACCGTTTCCTGGAT	0.557													False	0	True	13:114530064	0	A	114530064	G	A	114530064	3	1	88	1	0	0	0	0	1	0	0	0	6292	1145	40	1	670	1	GAS6	13	114530064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3591	114530064	639814	13901	21613											
GAS6	2621	broad.mit.edu	37	chr13	114531617	114531617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaagtccccggccaccGcgattttcatgacagcatcc	9	15	1	1	rs146140804	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114531617G>A	ENST00000357389.3	-	11	1492	c.1340C>T	c.(1339-1341)gCg>gTg	p.A447V	GAS6_ENST00000327773.6_Missense_Mutation_p.A404V|GAS6_ENST00000355761.4_Missense_Mutation_p.A350V|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Missense_Mutation_p.A105V|GAS6_ENST00000450766.1_Missense_Mutation_p.A131V			Q14393	GAS6_HUMAN	growth arrest-specific 6	447	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCCGGCCACCGCGATTTTCAT	0.557													False	0	False	13:114531617	0	A	114531617	G	A	114531617	3	1	88	1	0	0	0	0	1	0	0	0	6292	1087	38	1	845	1	GAS6	13	114531617	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1553	114531617	638261	13902	21614											
GAS6	2621	broad.mit.edu	37	chr13	114541118	114541118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctacccggcttgttgtgGcagatctggaggcagccccc	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114541118G>A	ENST00000357389.3	-	6	665	c.513C>T	c.(511-513)tgC>tgT	p.C171C	GAS6_ENST00000327773.6_Silent_p.C171C|GAS6_ENST00000355761.4_Silent_p.C117C|GAS6-AS1_ENST00000458001.1_RNA			Q14393	GAS6_HUMAN	growth arrest-specific 6	171	EGF-like 2; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GCTTGTTGTGGCAGATCTGGA	0.622													False	0	False	13:114541118	0	A	114541118	G	A	114541118	2	1	88	1	0	0	0	0	0	0	0	1	6292	1195	42	2		2	GAS6	13	114541118	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9501	114541118	628760	13903	21615											
RASA3	22821	broad.mit.edu	37	chr13	114795310	114795310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggcgagcttgtggcagacGaccccagtgtctgtgatgac	15	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114795310G>A	ENST00000542651.1	-	4	393	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	RASA3_ENST00000389544.4_Silent_p.V110V|RASA3_ENST00000334062.7_Silent_p.V142V			Q14644	RASA3_HUMAN	RAS p21 protein activator 3	0					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGTGGCAGACGACCCCAGTGT	0.622													False	0	False	13:114795310	0	A	114795310	G	A	114795310	3	1	88	1	0	0	0	0	1	0	0	0	13141	1045	37	1	2158	1	RASA3	13	114795310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	254192	114795310	374568	13904	21616											
CDC16	8881	broad.mit.edu	37	chr13	115002285	115002285	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccctccagaagaaccccagGacatctattggttggctcag	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115002285G>T	ENST00000360383.3	+	3	313	c.115G>T	c.(115-117)Gac>Tac	p.D39Y	CDC16_ENST00000375312.3_5'UTR|CDC16_ENST00000252458.6_5'UTR|CDC16_ENST00000356221.3_Missense_Mutation_p.D39Y|CDC16_ENST00000375308.1_5'UTR|CDC16_ENST00000375310.1_5'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.D38Y	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	39					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AGAACCCCAGGACATCTATTG	0.413													False	0	False	13:115002285	0	T	115002285	G	T	115002285	3	4	88	1	0	0	0	0	1	0	0	0	3081	1174	41	3	125	3	CDC16	13	115002285	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206975	115002285	167593	13905	21617											
UPF3A	65110	broad.mit.edu	37	chr13	115070355	115070355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctgcaaggcagaaggttCggggactggtcctgagaaga	16	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115070355C>T	ENST00000375299.3	+	10	1450	c.1394C>T	c.(1393-1395)tCg>tTg	p.S465L	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Missense_Mutation_p.S432L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	465					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCAGAAGGTTCGGGGACTGGT	0.602													False	0	True	13:115070355	0	T	115070355	C	T	115070355	3	4	88	1	0	0	0	0	1	0	0	0	17089	893	31	1	1432	1	UPF3A	13	115070355	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68070	115070355	99523	13906	21618											
OR11H12	440153	broad.mit.edu	37	chr14	19377733	19377733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcttctcactctttaCtacaacatatgcactgacta	2	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19377733C>T	ENST00000550708.1	+	1	212	c.140C>T	c.(139-141)aCt>aTt	p.T47I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACTCTTTACTACAACATAT	0.423													False	0	False	14:19377733	0	T	19377733	C	T	19377733	3	4	88	1	0	0	0	0	1	0	0	0	10995	565	20	2	142	2	OR11H12	14	19377733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		19377733	87971807	13907	21619											
POTEG	404785	broad.mit.edu	37	chr14	19566057	19566057	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaaacagatgctaaaAgtctcttctgaaaacagcaa	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19566057A>C	ENST00000409832.3	+	6	1153	c.1101A>C	c.(1099-1101)aaA>aaC	p.K367N	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	367										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGATGCTAAAAGTCTCTTCTG	0.318													False	0	True	14:19566057	0	C	19566057	A	C	19566057	3	2	88	1	0	0	0	0	1	0	0	0	12335	69	3	4	1123	4	POTEG	14	19566057	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	188324	19566057	87783483	13908	21620											
OR4Q3	441669	broad.mit.edu	37	chr14	20215653	20215653	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctatcatcttcttgggagCtgcagctatttctcttctta	7	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20215653C>T	ENST00000331723.1	+	1	67	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTTGGGAGCTGCAGCTATT	0.383													False	0	False	14:20215653	0	T	20215653	C	T	20215653	2	4	88	1	0	0	0	0	0	0	0	1	11149	796	28	2		2	OR4Q3	14	20215653	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	649596	20215653	87133887	13909	21621											
OR4Q3	441669	broad.mit.edu	37	chr14	20216181	20216181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacctatgtggtagaggtgCtggtgatagccaacagtggt	14	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20216181C>T	ENST00000331723.1	+	1	595	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTAGAGGTGCTGGTGATAGC	0.498													False	0	False	14:20216181	0	T	20216181	C	T	20216181	2	4	88	1	0	0	0	0	0	0	0	1	11149	796	28	2		2	OR4Q3	14	20216181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	528	20216181	87133359	13910	21622											
OR4Q3	441669	broad.mit.edu	37	chr14	20216295	20216295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccagggccagaacaagGtcttctctacctgtgcttct	9	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20216295G>A	ENST00000331723.1	+	1	709	c.709G>A	c.(709-711)Gtc>Atc	p.V237I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGAACAAGGTCTTCTCTAC	0.483													False	0	False	14:20216295	0	A	20216295	G	A	20216295	3	1	88	1	0	0	0	0	1	0	0	0	11149	1261	44	2	711	2	OR4Q3	14	20216295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114	20216295	87133245	13911	21623											
OR4M1	441670	broad.mit.edu	37	chr14	20248580	20248580	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctatttgttatatttctatcCttctatttgttcatcctacc	2	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20248580C>A	ENST00000315957.4	+	1	180	c.99C>A	c.(97-99)tcC>tcA	p.S33S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATTTCTATCCTTCTATTTGT	0.413													False	0	False	14:20248580	0	A	20248580	C	A	20248580	2	1	88	1	0	0	0	0	0	0	0	1	11143	668	24	3		3	OR4M1	14	20248580	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32285	20248580	87100960	13912	21624											
OR4M1	441670	broad.mit.edu	37	chr14	20249045	20249045	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acacaggttgtccggattgcCtgtgccaacaccttcccaga	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20249045C>A	ENST00000315957.4	+	1	645	c.564C>A	c.(562-564)gcC>gcA	p.A188A		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCGGATTGCCTGTGCCAACA	0.458													False	0	False	14:20249045	0	A	20249045	C	A	20249045	2	1	88	1	0	0	0	0	0	0	0	1	11143	668	24	3		3	OR4M1	14	20249045	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	465	20249045	87100495	13913	21625											
OR4N2	390429	broad.mit.edu	37	chr14	20296207	20296207	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtggtggagcttctgatggtCttcaacagtggcctgatgac	14	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20296207C>A	ENST00000315947.1	+	1	600	c.600C>A	c.(598-600)gtC>gtA	p.V200V	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTGATGGTCTTCAACAGTG	0.512													False	0	False	14:20296207	0	A	20296207	C	A	20296207	2	1	88	1	0	0	0	0	0	0	0	1	11145	900	32	3		3	OR4N2	14	20296207	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47162	20296207	87053333	13914	21626											
OR4N2	390429	broad.mit.edu	37	chr14	20296521	20296521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaggtgtttaataagcAcatagcctgaaaaagggcgc	11	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20296521A>G	ENST00000315947.1	+	1	914	c.914A>G	c.(913-915)cAc>cGc	p.H305R	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTAATAAGCACATAGCCTGA	0.343													False	0	False	14:20296521	0	G	20296521	A	G	20296521	3	3	88	1	0	0	0	0	1	0	0	0	11145	159	6	4	916	4	OR4N2	14	20296521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	314	20296521	87053019	13915	21627											
OR4K5	79317	broad.mit.edu	37	chr14	20389182	20389182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtggtcatcatgagccgaagGacatgcactgtcttggtaat	12	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20389182G>T	ENST00000315915.4	+	1	442	c.417G>T	c.(415-417)agG>agT	p.R139S		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAGCCGAAGGACATGCACTG	0.453													False	0	False	14:20389182	0	T	20389182	G	T	20389182	3	4	88	1	0	0	0	0	1	0	0	0	11141	1165	41	3	419	3	OR4K5	14	20389182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92661	20389182	86960358	13916	21628											
OR4K1	79544	broad.mit.edu	37	chr14	20404104	20404104	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgagcgcaagactatctcCtttgagggttgcatggccca	11	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404104C>A	ENST00000285600.4	+	1	338	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGACTATCTCCTTTGAGGGTT	0.403													False	0	True	14:20404104	0	A	20404104	C	A	20404104	2	1	88	1	0	0	0	0	0	0	0	1	11135	668	24	3		3	OR4K1	14	20404104	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14922	20404104	86945436	13917	21629											
OR4K1	79544	broad.mit.edu	37	chr14	20404198	20404198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcatatgacagatttataGccatatgtaagcctctgcac	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404198G>T	ENST00000285600.4	+	1	432	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CAGATTTATAGCCATATGTAA	0.438													False	0	False	14:20404198	0	T	20404198	G	T	20404198	3	4	88	1	0	0	0	0	1	0	0	0	11135	971	34	3	375	3	OR4K1	14	20404198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	20404198	86945342	13918	21630											
OR4K14	122740	broad.mit.edu	37	chr14	20482665	20482665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggatgtgctaccggcagCacgctgtctgatagcgagga	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20482665C>T	ENST00000305045.2	-	1	687	c.688G>A	c.(688-690)Gct>Act	p.A230T		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTACCGGCAGCACGCTGTCTG	0.493													False	0	False	14:20482665	0	T	20482665	C	T	20482665	3	4	88	1	0	0	0	0	1	0	0	0	11137	710	25	2	247	2	OR4K14	14	20482665	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78467	20482665	86866875	13919	21631											
OR4K14	122740	broad.mit.edu	37	chr14	20483064	20483064	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagatttgagccatacatcCtccaaaggagatgagttttt	9	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20483064C>A	ENST00000305045.2	-	1	288	c.289G>T	c.(289-291)Gga>Tga	p.G97*		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCATACATCCTCCAAAGGAG	0.488													False	0	False	14:20483064	0	A	20483064	C	A	20483064	4	1	88	1	0	0	0	0	0	1	0	0	11137	690	24	3	646	3	OR4K14	14	20483064	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399	20483064	86866476	13920	21632											
OR11G2	390439	broad.mit.edu	37	chr14	20666038	20666038	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagacgtctctgtaccaatCttgtggtcaattgctgggta	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20666038C>A	ENST00000357366.3	+	1	544	c.544C>A	c.(544-546)Ctt>Att	p.L182I		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGTACCAATCTTGTGGTCAA	0.443													False	0	False	14:20666038	0	A	20666038	C	A	20666038	3	1	88	1	0	0	0	0	1	0	0	0	10993	913	32	3	546	3	OR11G2	14	20666038	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182974	20666038	86683502	13921	21633											
OR11G2	390439	broad.mit.edu	37	chr14	20666258	20666258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttctcttcattgtggggtCctatgctctggtcgtgagag	12	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20666258C>T	ENST00000357366.3	+	1	764	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATTGTGGGGTCCTATGCTCTG	0.498													False	0	False	14:20666258	0	T	20666258	C	T	20666258	3	4	88	1	0	0	0	0	1	0	0	0	10993	855	30	2	766	2	OR11G2	14	20666258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220	20666258	86683282	13922	21634											
OR11H6	122748	broad.mit.edu	37	chr14	20692788	20692788	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccattcttaaatccccttaTctatagtcttcgaaacaaag	3	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20692788T>C	ENST00000315519.2	+	1	998	c.920T>C	c.(919-921)aTc>aCc	p.I307T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I307N(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		AATCCCCTTATCTATAGTCTT	0.408													False	0	False	14:20692788	0	C	20692788	T	C	20692788	3	2	88	1	0	0	0	0	1	0	0	0	10997	1435	50	4	922	4	OR11H6	14	20692788	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26530	20692788	86656752	13923	21635											
TTC5	91875	broad.mit.edu	37	chr14	20767555	20767555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcatcttcagtgtcagtcCgcagctgacgaagcaccatt	9	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20767555C>T	ENST00000258821.3	-	4	505	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	150					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGTGTCAGTCCGCAGCTGACG	0.502													False	0	False	14:20767555	0	T	20767555	C	T	20767555	3	4	88	1	0	0	0	0	1	0	0	0	16795	652	23	1	901	1	TTC5	14	20767555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74767	20767555	86581985	13924	21636											
TTC5	91875	broad.mit.edu	37	chr14	20770011	20770011	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccactacttcttccatctgCtgtagggttttctccatctc	5	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20770011C>A	ENST00000258821.3	-	2	221	c.165G>T	c.(163-165)caG>caT	p.Q55H		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	55					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTTCCATCTGCTGTAGGGTTT	0.473													False	0	False	14:20770011	0	A	20770011	C	A	20770011	3	1	88	1	0	0	0	0	1	0	0	0	16795	796	28	3	1193	3	TTC5	14	20770011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2456	20770011	86579529	13925	21637											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20784609	20784609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgagagcaggcagtgAcccatgcatagccagagagt	14	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20784609A>G	ENST00000398169.3	-	5	690	c.74T>C	c.(73-75)gTc>gCc	p.V25A	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.V25A|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.V25A			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	25						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GCAGGCAGTGACCCATGCATA	0.473			T	HMGA2	leiomyoma								False	0	True	14:20784609	0	G	20784609	A	G	20784609	3	3	88	1	0	0	0	0	1	0	0	0	2935	275	10	4	771	4	CCNB1IP1	14	20784609	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14598	20784609	86564931	13926	21638											
PARP2	10038	broad.mit.edu	37	chr14	20825861	20825861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaatccagatggttatAccctcaactacaatgaatat	5	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20825861A>G	ENST00000250416.5	+	16	1684	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_Missense_Mutation_p.T540A	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	553	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		AGATGGTTATACCCTCAACTA	0.408								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					False	0	True	14:20825861	0	G	20825861	A	G	20825861	3	3	88	1	0	0	0	0	1	0	0	0	11529	391	14	4	1719	4	PARP2	14	20825861	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41252	20825861	86523679	13927	21639											
TEP1	7011	broad.mit.edu	37	chr14	20841224	20841224	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagattagttccccagcttgAtttccagatactgccatgga	8	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841224A>G	ENST00000262715.5	-	48	6937	c.6897T>C	c.(6895-6897)aaT>aaC	p.N2299N	TEP1_ENST00000545983.1_Silent_p.N637N|TEP1_ENST00000556935.1_Silent_p.N2191N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2299					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCCAGCTTGATTTCCAGATA	0.517													False	0	True	14:20841224	0	G	20841224	A	G	20841224	2	3	88	1	0	0	0	0	0	0	0	1	15841	330	12	4		4	TEP1	14	20841224	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15363	20841224	86508316	13928	21640											
TEP1	7011	broad.mit.edu	37	chr14	20841685	20841685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagagtggatgccataacCgtgtggccccatctagcccg	11	14	1	1	rs146330073		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841685C>T	ENST00000262715.5	-	46	6702	c.6662G>A	c.(6661-6663)cGg>cAg	p.R2221Q	TEP1_ENST00000545983.1_Missense_Mutation_p.R559Q|TEP1_ENST00000556935.1_Missense_Mutation_p.R2113Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2221					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATGCCATAACCGTGTGGCCCC	0.557													False	0	False	14:20841685	0	T	20841685	C	T	20841685	3	4	88	1	0	0	0	0	1	0	0	0	15841	652	23	1	1261	1	TEP1	14	20841685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	461	20841685	86507855	13929	21641											
TEP1	7011	broad.mit.edu	37	chr14	20841723	20841723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacggttaccaccagaagCtctgacccaggctgtccagc	10	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841723C>T	ENST00000262715.5	-	46	6664	c.6624G>A	c.(6622-6624)gaG>gaA	p.E2208E	TEP1_ENST00000545983.1_Silent_p.E546E|TEP1_ENST00000556935.1_Silent_p.E2100E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2208					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCACCAGAAGCTCTGACCCAG	0.572													False	0	False	14:20841723	0	T	20841723	C	T	20841723	2	4	88	1	0	0	0	0	0	0	0	1	15841	796	28	2		2	TEP1	14	20841723	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	20841723	86507817	13930	21642											
TEP1	7011	broad.mit.edu	37	chr14	20843925	20843925	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttactcaccagtaggttatCtttggtccaggcacagccag	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20843925C>T	ENST00000262715.5	-	43	6392	c.6352G>A	c.(6352-6354)Gat>Aat	p.D2118N	TEP1_ENST00000545983.1_Missense_Mutation_p.D456N|TEP1_ENST00000556935.1_Missense_Mutation_p.D2010N	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2118					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGTAGGTTATCTTTGGTCCAG	0.582													False	0	True	14:20843925	0	T	20843925	C	T	20843925	3	4	88	1	0	0	0	0	1	0	0	0	15841	913	32	2	1583	2	TEP1	14	20843925	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2202	20843925	86505615	13931	21643											
TEP1	7011	broad.mit.edu	37	chr14	20850180	20850180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtccccttcggtagtgtcCgccacacactcagcactccg	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20850180C>T	ENST00000262715.5	-	30	4356	c.4316G>A	c.(4315-4317)cGg>cAg	p.R1439Q	TEP1_ENST00000545983.1_5'UTR|TEP1_ENST00000556935.1_Missense_Mutation_p.R1331Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1439	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGGTAGTGTCCGCCACACACT	0.597													False	0	False	14:20850180	0	T	20850180	C	T	20850180	3	4	88	1	0	0	0	0	1	0	0	0	15841	652	23	1	3671	1	TEP1	14	20850180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6255	20850180	86499360	13932	21644											
TEP1	7011	broad.mit.edu	37	chr14	20872901	20872901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttattggccacattccggaCgttcagctgctgcctggcat	11	12	1	0	rs144854568		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20872901C>T	ENST00000262715.5	-	5	941	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	301	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACATTCCGGACGTTCAGCTGC	0.537													False	0	False	14:20872901	0	T	20872901	C	T	20872901	3	4	88	1	0	0	0	0	1	0	0	0	15841	536	19	1	7186	1	TEP1	14	20872901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22721	20872901	86476639	13933	21645											
OSGEP	55644	broad.mit.edu	37	chr14	20916132	20916132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcgctctgtgatctctaCcagcattgcaaacacagttt	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20916132C>T	ENST00000555656.1	-	4	2144	c.127G>A	c.(127-129)Gta>Ata	p.V43I	OSGEP_ENST00000206542.4_Missense_Mutation_p.V242I|OSGEP_ENST00000554249.1_Missense_Mutation_p.V60I			Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	242					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GTGATCTCTACCAGCATTGCA	0.473													False	0	False	14:20916132	0	T	20916132	C	T	20916132	3	4	88	1	0	0	0	0	1	0	0	0	11355	507	18	2	299	2	OSGEP	14	20916132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43231	20916132	86433408	13934	21646											
OSGEP	55644	broad.mit.edu	37	chr14	20922835	20922835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttcaaaacccagcaccGccggcatggcggaggctggg	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20922835G>A	ENST00000206542.4	-	1	429	c.8C>T	c.(7-9)gCg>gTg	p.A3V	OSGEP_ENST00000556252.1_5'UTR	NM_017807.3	NP_060277.1	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	3					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		ACCCAGCACCGCCGGCATGGC	0.652													False	0	False	14:20922835	0	A	20922835	G	A	20922835	3	1	88	1	0	0	0	0	1	0	0	0	11355	1087	38	1	1043	1	OSGEP	14	20922835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6703	20922835	86426705	13935	21647											
TMEM55B	90809	broad.mit.edu	37	chr14	20928928	20928928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcactcccactgtccggGctagttaagggtgaataggg	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20928928G>A	ENST00000250489.4	-	2	505	c.219C>T	c.(217-219)agC>agT	p.S73S	TMEM55B_ENST00000398020.4_Silent_p.S80S			Q86T03	TM55B_HUMAN	transmembrane protein 55B	73	Pro-rich.					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CACTGTCCGGGCTAGTTAAGG	0.562													False	0	True	14:20928928	0	A	20928928	G	A	20928928	2	1	88	1	0	0	0	0	0	0	0	1	16264	1194	42	2		2	TMEM55B	14	20928928	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6093	20928928	86420612	13936	21648											
PNP	4860	broad.mit.edu	37	chr14	20940628	20940628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaatccccaactttccccGaagtacaggtactggcaagg	9	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20940628G>A	ENST00000361505.5	+	2	319	c.173G>A	c.(172-174)cGa>cAa	p.R58Q		NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	58					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	AACTTTCCCCGAAGTACAGGT	0.468													False	0	True	14:20940628	0	A	20940628	G	A	20940628	3	1	88	1	0	0	0	0	1	0	0	0	12232	1058	37	1	179	1	PNP	14	20940628	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11700	20940628	86408912	13937	21649											
RNASE11	122651	broad.mit.edu	37	chr14	21052116	21052116	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttctctaatgaggtaacaCtatggtattggcacctgggg	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21052116C>A	ENST00000610205.1	-	3	701	c.518G>T	c.(517-519)aGt>aTt	p.S173I	RNASE11_ENST00000398009.2_Missense_Mutation_p.S173I|RNASE11_ENST00000432835.2_Missense_Mutation_p.S173I|RNASE11_ENST00000553849.1_Missense_Mutation_p.S173I|RNASE11_ENST00000555841.1_Missense_Mutation_p.S173I|RNASE11_ENST00000398008.2_Missense_Mutation_p.S173I	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)							extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TGAGGTAACACTATGGTATTG	0.448													False	0	False	14:21052116	0	A	21052116	C	A	21052116	3	1	88	1	0	0	0	0	1	0	0	0	13480	565	20	3	85	3	RNASE11	14	21052116	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111488	21052116	86297424	13938	21650											
EDDM3A	10876	broad.mit.edu	37	chr14	21215860	21215860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taaaacttcattacttaagtCcaagtcgagaattcaaagag	6	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21215860C>T	ENST00000326842.2	+	2	248	c.121C>T	c.(121-123)Cca>Tca	p.P41S		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	41					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTACTTAAGTCCAAGTCGAGA	0.393													False	0	False	14:21215860	0	T	21215860	C	T	21215860	3	4	88	1	0	0	0	0	1	0	0	0	4939	855	30	2	123	2	EDDM3A	14	21215860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163744	21215860	86133680	13939	21651											
RNASE13	440163	broad.mit.edu	37	chr14	21502136	21502136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgtgatggggagggaatcCtgggtgagtgtgcagtattc	17	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21502136C>A	ENST00000382951.3	-	2	449	c.312G>T	c.(310-312)caG>caT	p.Q104H	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	104						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		GGAGGGAATCCTGGGTGAGTG	0.498													False	0	False	14:21502136	0	A	21502136	C	A	21502136	3	1	88	1	0	0	0	0	1	0	0	0	13482	680	24	3	162	3	RNASE13	14	21502136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286276	21502136	85847404	13940	21652											
ZNF219	0	broad.mit.edu	37	chr14	21561402	21561402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagctcgccgtcgaaagcCggcggcgacggcgctaagtg	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21561402C>T	ENST00000360947.3	-	3	465	c.54G>A	c.(52-54)ccG>ccA	p.P18P	ZNF219_ENST00000421093.2_Silent_p.P18P|ZNF219_ENST00000451119.2_Silent_p.P18P	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	18					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGTCGAAAGCCGGCGGCGACG	0.647											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	14:21561402	0	T	21561402	C	T	21561402	2	4	88	1	0	0	0	0	0	0	0	1	17856	639	23	1		1	ZNF219	14	21561402	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59266	21561402	85788138	13941	21653											
HNRNPC	3183	broad.mit.edu	37	chr14	21702191	21702191	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcattaacatactgaacGaaggcaaagcccttatgaac	6	11	1	2	rs117138992	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21702191G>A	ENST00000430246.2	-	2	3113	c.162C>T	c.(160-162)ttC>ttT	p.F54F	HNRNPC_ENST00000555883.1_Silent_p.F54F|HNRNPC_ENST00000420743.2_Silent_p.F54F|HNRNPC_ENST00000553753.1_Silent_p.F54F|HNRNPC_ENST00000557201.1_Silent_p.F54F|HNRNPC_ENST00000555914.1_Silent_p.F54F|HNRNPC_ENST00000556897.1_Silent_p.F54F|HNRNPC_ENST00000320084.7_Silent_p.F54F|HNRNPC_ENST00000556142.1_Silent_p.F54F|HNRNPC_ENST00000556513.1_Silent_p.F54F|HNRNPC_ENST00000554969.1_Silent_p.F54F|HNRNPC_ENST00000336053.6_Silent_p.F54F|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000449098.1_Silent_p.F54F|HNRNPC_ENST00000554455.1_Silent_p.F54F|HNRNPC_ENST00000553300.1_Silent_p.F54F|HNRNPC_ENST00000555309.1_Silent_p.F54F			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	54	RRM.					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CATACTGAACGAAGGCAAAGC	0.443													False	0	False	14:21702191	0	A	21702191	G	A	21702191	2	1	88	1	0	0	0	0	0	0	0	1	7309	1049	37	1		1	HNRNPC	14	21702191	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140789	21702191	85647349	13942	21654											
RPGRIP1	57096	broad.mit.edu	37	chr14	21788264	21788264	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaaatgcagccacaatTtcccaacctcctgacaggca	5	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21788264T>G	ENST00000206660.6	+	11	1395	c.1395T>G	c.(1393-1395)atT>atG	p.I465M	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.I465M|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.I438M|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.I107M			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	465					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGCCACAATTTCCCAACCTC	0.458													False	0	True	14:21788264	0	G	21788264	T	G	21788264	3	3	88	1	0	0	0	0	1	0	0	0	13628	1829	64	4	1437	4	RPGRIP1	14	21788264	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86073	21788264	85561276	13943	21655											
SUPT16H	11198	broad.mit.edu	37	chr14	21830444	21830444	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcaataaaagttgattcGcaagtaagtataatctcctt	8	6	1	1	rs143235888	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21830444G>A	ENST00000216297.2	-	15	2043	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	569					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AAGTTGATTCGCAAGTAAGTA	0.398													False	0	False	14:21830444	0	A	21830444	G	A	21830444	4	1	88	1	0	0	0	0	0	1	0	0	15478	1095	38	1	1486	1	SUPT16H	14	21830444	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42180	21830444	85519096	13944	21656											
CHD8	57680	broad.mit.edu	37	chr14	21859667	21859667	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactctggatgaccctgtaaCcacatctccagttcagcccg	7	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21859667C>T	ENST00000399982.2	-	35	7084	c.7020G>A	c.(7018-7020)tgG>tgA	p.W2340*	CHD8_ENST00000557364.1_Nonsense_Mutation_p.W2340*|CHD8_ENST00000430710.3_Nonsense_Mutation_p.W2061*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2340					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GACCCTGTAACCACATCTCCA	0.512													False	0	False	14:21859667	0	T	21859667	C	T	21859667	4	4	88	1	0	0	0	0	0	1	0	0	3354	508	18	2	737	2	CHD8	14	21859667	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29223	21859667	85489873	13945	21657											
CHD8	57680	broad.mit.edu	37	chr14	21861744	21861744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcaagtccagctcagaGtccgaatcatcctcatcctc	6	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21861744G>A	ENST00000399982.2	-	31	6274	c.6210C>T	c.(6208-6210)gaC>gaT	p.D2070D	CHD8_ENST00000557364.1_Silent_p.D2070D|CHD8_ENST00000430710.3_Silent_p.D1791D	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2070	Ser-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCAGCTCAGAGTCCGAATCAT	0.522													False	0	False	14:21861744	0	A	21861744	G	A	21861744	2	1	88	1	0	0	0	0	0	0	0	1	3354	1020	36	2		2	CHD8	14	21861744	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2077	21861744	85487796	13946	21658											
CHD8	57680	broad.mit.edu	37	chr14	21863231	21863231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaagcctagctgttagggCagagcccggaggccagaata	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21863231C>T	ENST00000399982.2	-	29	5294	c.5230G>A	c.(5230-5232)Gcc>Acc	p.A1744T	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.A1744T|CHD8_ENST00000430710.3_Missense_Mutation_p.A1465T	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1744					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCTGTTAGGGCAGAGCCCGGA	0.522													False	0	True	14:21863231	0	T	21863231	C	T	21863231	3	4	88	1	0	0	0	0	1	0	0	0	3354	710	25	2	2551	2	CHD8	14	21863231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1487	21863231	85486309	13947	21659											
CHD8	57680	broad.mit.edu	37	chr14	21868399	21868399	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggatccaatctgccttatgGatatcaaaagtgctttgtga	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21868399G>A	ENST00000399982.2	-	23	4702	c.4638C>T	c.(4636-4638)atC>atT	p.I1546I	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Silent_p.I1546I|CHD8_ENST00000430710.3_Silent_p.I1267I	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1546					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGCCTTATGGATATCAAAAG	0.403													False	0	False	14:21868399	0	A	21868399	G	A	21868399	2	1	88	1	0	0	0	0	0	0	0	1	3354	1164	41	2		2	CHD8	14	21868399	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5168	21868399	85481141	13948	21660											
CHD8	57680	broad.mit.edu	37	chr14	21869119	21869119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtctgcgggagcgtggccGctcatcatcctcactttcca	10	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21869119G>A	ENST00000399982.2	-	21	4349	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.R1429W|CHD8_ENST00000430710.3_Missense_Mutation_p.R1150W	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1429					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAGCGTGGCCGCTCATCATCC	0.498													False	0	False	14:21869119	0	A	21869119	G	A	21869119	3	1	88	1	0	0	0	0	1	0	0	0	3354	1086	38	1	3528	1	CHD8	14	21869119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	720	21869119	85480421	13949	21661											
CHD8	57680	broad.mit.edu	37	chr14	21894391	21894391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcttcttacccactacagGagtgatggtgctaaaaagga	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21894391G>A	ENST00000399982.2	-	4	1676	c.1612C>T	c.(1612-1614)Cct>Tct	p.P538S	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.P538S|CHD8_ENST00000430710.3_Missense_Mutation_p.P259S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	538					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCCACTACAGGAGTGATGGTG	0.353													False	0	False	14:21894391	0	A	21894391	G	A	21894391	3	1	88	1	0	0	0	0	1	0	0	0	3354	1174	41	2	6269	2	CHD8	14	21894391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25272	21894391	85455149	13950	21662											
CHD8	57680	broad.mit.edu	37	chr14	21899168	21899168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agacaatggaaacacctggtCgaaggggtgtgccggttagc	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21899168C>T	ENST00000399982.2	-	1	699	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.R212Q|CHD8_ENST00000430710.3_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	212					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AACACCTGGTCGAAGGGGTGT	0.572													False	0	False	14:21899168	0	T	21899168	C	T	21899168	3	4	88	1	0	0	0	0	1	0	0	0	3354	884	31	1	7258	1	CHD8	14	21899168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4777	21899168	85450372	13951	21663											
RAB2B	84932	broad.mit.edu	37	chr14	21931868	21931868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccatgaatataagtccatGctccctagcaaaggcctctc	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21931868G>A	ENST00000397762.1	-	6	521	c.421C>T	c.(421-423)Cat>Tat	p.H141Y	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	141					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		ATAAGTCCATGCTCCCTAGCA	0.413													False	0	False	14:21931868	0	A	21931868	G	A	21931868	3	1	88	1	0	0	0	0	1	0	0	0	12997	1319	46	2	241	2	RAB2B	14	21931868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32700	21931868	85417672	13952	21664											
TOX4	9878	broad.mit.edu	37	chr14	21961134	21961134	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattacaacagatgccacaGcccccgactcagcagcaagt	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21961134G>T	ENST00000405508.1	+	8	1635	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	TOX4_ENST00000262709.3_Missense_Mutation_p.Q453H|TOX4_ENST00000448790.2_Missense_Mutation_p.Q430H			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	453	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGATGCCACAGCCCCCGACTC	0.567													False	0	True	14:21961134	0	T	21961134	G	T	21961134	3	4	88	1	0	0	0	0	1	0	0	0	16463	962	34	3	1385	3	TOX4	14	21961134	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29266	21961134	85388406	13953	21665											
METTL3	56339	broad.mit.edu	37	chr14	21971467	21971467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccagagactaacgaactgGcaaaggcagctactgtagtc	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21971467G>A	ENST00000298717.4	-	3	723	c.572C>T	c.(571-573)gCc>gTc	p.A191V	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	191					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TAACGAACTGGCAAAGGCAGC	0.547													False	0	False	14:21971467	0	A	21971467	G	A	21971467	3	1	88	1	0	0	0	0	1	0	0	0	9568	1203	42	2	1206	2	METTL3	14	21971467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10333	21971467	85378073	13954	21666											
SALL2	6297	broad.mit.edu	37	chr14	21991201	21991201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctctaccaaggtcacGctggtggcttccccttctgg	10	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21991201G>A	ENST00000327430.3	-	2	2955	c.2661C>T	c.(2659-2661)agC>agT	p.S887S	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.S750S|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	887							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCAAGGTCACGCTGGTGGCTT	0.592													False	0	False	14:21991201	0	A	21991201	G	A	21991201	2	1	88	1	0	0	0	0	0	0	0	1	13890	1078	38	1		1	SALL2	14	21991201	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19734	21991201	85358339	13955	21667											
SALL2	6297	broad.mit.edu	37	chr14	21993139	21993139	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaggcttgatggggctgaaGaggggtagtaggggcttggt	20	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21993139G>T	ENST00000327430.3	-	2	1017	c.723C>A	c.(721-723)ctC>ctA	p.L241L	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	241							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGGGGCTGAAGAGGGGTAGTA	0.602													False	0	False	14:21993139	0	T	21993139	G	T	21993139	2	4	88	1	0	0	0	0	0	0	0	1	13890	929	33	3		3	SALL2	14	21993139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1938	21993139	85356401	13956	21668											
OR10G3	26533	broad.mit.edu	37	chr14	22038099	22038099	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggtttcaggcctcaggtaGatgaaggcacagggcacata	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22038099G>A	ENST00000303532.1	-	1	776	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GCCTCAGGTAGATGAAGGCAC	0.582													False	0	False	14:22038099	0	A	22038099	G	A	22038099	2	1	88	1	0	0	0	0	0	0	0	1	10968	932	33	2		2	OR10G3	14	22038099	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44960	22038099	85311441	13957	21669											
OR10G2	26534	broad.mit.edu	37	chr14	22102553	22102553	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacccaagctccagccacaAggactgtgcataacctccca	7	17	0	0	rs144770758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22102553A>C	ENST00000542433.1	-	1	543	c.446T>G	c.(445-447)cTt>cGt	p.L149R		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TCCAGCCACAAGGACTGTGCA	0.557													False	0	False	14:22102553	0	C	22102553	A	C	22102553	3	2	88	1	0	0	0	0	1	0	0	0	10967	72	3	4	489	4	OR10G2	14	22102553	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	64454	22102553	85246987	13958	21670											
OXA1L	5018	broad.mit.edu	37	chr14	23240499	23240499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaaaatgctgaaatgacGcgtcagctgcgagagcgtga	14	7	1	4	rs145104436		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23240499G>A	ENST00000358043.5	+	9	1395	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	OXA1L_ENST00000285848.5_Silent_p.T435T|OXA1L_ENST00000604262.1_Silent_p.T375T|OXA1L_ENST00000412791.1_Intron			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	375					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CTGAAATGACGCGTCAGCTGC	0.463													False	0	False	14:23240499	0	A	23240499	G	A	23240499	2	1	88	1	0	0	0	0	0	0	0	1	11396	1074	38	1		1	OXA1L	14	23240499	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1137946	23240499	84109041	13959	21671											
SLC7A7	9056	broad.mit.edu	37	chr14	23243280	23243280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagtggaacagccaccaGgaagatggtgcagaggcaga	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23243280G>A	ENST00000397532.3	-	9	1816	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000554517.1_Silent_p.L165L|SLC7A7_ENST00000397529.2_Silent_p.L431L|SLC7A7_ENST00000397528.4_Silent_p.L431L|SLC7A7_ENST00000285850.7_Silent_p.L431L|SLC7A7_ENST00000555702.1_Silent_p.L431L			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	431					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACAGCCACCAGGAAGATGGTG	0.493													False	0	False	14:23243280	0	A	23243280	G	A	23243280	2	1	88	1	0	0	0	0	0	0	0	1	14783	991	35	2		2	SLC7A7	14	23243280	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2781	23243280	84106260	13960	21672											
SLC7A7	9056	broad.mit.edu	37	chr14	23282281	23282281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggaatcctccaaaggcCtccaggatataggcatagct	10	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23282281C>T	ENST00000397532.3	-	2	852	c.327G>A	c.(325-327)gaG>gaA	p.E109E	SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000397529.2_Silent_p.E109E|SLC7A7_ENST00000397528.4_Silent_p.E109E|SLC7A7_ENST00000285850.7_Silent_p.E109E|SLC7A7_ENST00000555702.1_Silent_p.E109E			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	109					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CTCCAAAGGCCTCCAGGATAT	0.552													False	0	False	14:23282281	0	T	23282281	C	T	23282281	2	4	88	1	0	0	0	0	0	0	0	1	14783	680	24	2		2	SLC7A7	14	23282281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39001	23282281	84067259	13961	21673											
SLC7A7	9056	broad.mit.edu	37	chr14	23282626	23282626	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtggaggagaggaaaccCttcaccagcttcctggcatt	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23282626C>A	ENST00000397532.3	-	0	507				SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000397529.2_De_novo_Start_OutOfFrame|SLC7A7_ENST00000397528.4_De_novo_Start_OutOfFrame|SLC7A7_ENST00000285850.7_De_novo_Start_OutOfFrame|SLC7A7_ENST00000555702.1_De_novo_Start_OutOfFrame			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGAGGAAACCCTTCACCAGCT	0.542													False	0	True	14:23282626	0	A	23282626	C	A	23282626	1	1	88	1	0	0	0	0	0	0	0	0	14783	696	24	3		3	SLC7A7	14	23282626	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	345	23282626	84066914	13962	21674											
MMP14	4323	broad.mit.edu	37	chr14	23306057	23306057	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccccaagacccccccgttgtCtcctgctccccctgctcacg	6	23	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23306057C>A	ENST00000311852.6	+	1	292	c.31C>A	c.(31-33)Ctc>Atc	p.L11I	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	11						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCCCCGTTGTCTCCTGCTCCC	0.726											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	14:23306057	0	A	23306057	C	A	23306057	3	1	88	1	0	0	0	0	1	0	0	0	9720	913	32	3	33	3	MMP14	14	23306057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23431	23306057	84043483	13963	21675											
MMP14	4323	broad.mit.edu	37	chr14	23306078	23306078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctccccctgctcacgCtcggcaccgcgctcgcctcc	8	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23306078C>T	ENST00000311852.6	+	1	313	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	18						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCTGCTCACGCTCGGCACCGC	0.731											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	14:23306078	0	T	23306078	C	T	23306078	3	4	88	1	0	0	0	0	1	0	0	0	9720	797	28	2	54	2	MMP14	14	23306078	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	23306078	84043462	13964	21676											
MMP14	4323	broad.mit.edu	37	chr14	23311685	23311685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattcgcaaggcgttccgCgtgtgggagagtgccacacc	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23311685C>T	ENST00000311852.6	+	4	708	c.447C>T	c.(445-447)cgC>cgT	p.R149R	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	149						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		AGGCGTTCCGCGTGTGGGAGA	0.607													False	0	False	14:23311685	0	T	23311685	C	T	23311685	2	4	88	1	0	0	0	0	0	0	0	1	9720	755	27	1		1	MMP14	14	23311685	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5607	23311685	84037855	13965	21677											
LRP10	26020	broad.mit.edu	37	chr14	23345402	23345402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagtgcgtgtatgagacGtgggtgtgcgatgggcagcc	19	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23345402G>A	ENST00000359591.4	+	5	1936	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	LRP10_ENST00000546834.1_Silent_p.T415T	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	415	LDL-receptor class A 4.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTATGAGACGTGGGTGTGCG	0.572													False	0	False	14:23345402	0	A	23345402	G	A	23345402	2	1	88	1	0	0	0	0	0	0	0	1	9014	1132	40	1		1	LRP10	14	23345402	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33717	23345402	84004138	13966	21678											
REM2	161253	broad.mit.edu	37	chr14	23353936	23353936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgttggcagagttggacCggagcgggttaccctctgcc	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23353936C>T	ENST00000267396.4	+	2	280	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	REM2_ENST00000536884.1_Missense_Mutation_p.R53W	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	53					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGAGTTGGACCGGAGCGGGTT	0.547													False	0	False	14:23353936	0	T	23353936	C	T	23353936	3	4	88	1	0	0	0	0	1	0	0	0	13302	643	23	1	163	1	REM2	14	23353936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8534	23353936	83995604	13967	21679											
REM2	161253	broad.mit.edu	37	chr14	23354048	23354048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgaacttgactggccacCtcaggcctcatcctctggct	9	14	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23354048C>T	ENST00000267396.4	+	2	392	c.269C>T	c.(268-270)cCt>cTt	p.P90L	REM2_ENST00000536884.1_Missense_Mutation_p.P90L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	90					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GACTGGCCACCTCAGGCCTCA	0.632													False	0	False	14:23354048	0	T	23354048	C	T	23354048	3	4	88	1	0	0	0	0	1	0	0	0	13302	681	24	2	275	2	REM2	14	23354048	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	23354048	83995492	13968	21680											
REM2	161253	broad.mit.edu	37	chr14	23354091	23354091	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgactccttgggctcaggGgaggcagcccctgctcaaaa	12	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23354091G>T	ENST00000267396.4	+	2	435	c.312G>T	c.(310-312)ggG>ggT	p.G104G	REM2_ENST00000536884.1_Silent_p.G104G	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	104					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TGGGCTCAGGGGAGGCAGCCC	0.617													False	0	True	14:23354091	0	T	23354091	G	T	23354091	2	4	88	1	0	0	0	0	0	0	0	1	13302	1219	43	3		3	REM2	14	23354091	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43	23354091	83995449	13969	21681											
PRMT5	10419	broad.mit.edu	37	chr14	23398403	23398403	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccgggatgactagtctgCccttctccgtccccgagttc	9	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23398403C>A	ENST00000397441.2	-	1	207	c.32G>T	c.(31-33)gGc>gTc	p.G11V	PRMT5_ENST00000553641.1_Intron|PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553897.1_Intron|PRMT5_ENST00000397440.4_Missense_Mutation_p.G11V|PRMT5_ENST00000216350.8_Missense_Mutation_p.G11V	NM_001039619.1	NP_001034708.1	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	0					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GACTAGTCTGCCCTTCTCCGT	0.627													False	0	True	14:23398403	0	A	23398403	C	A	23398403	3	1	88	1	0	0	0	0	1	0	0	0	12615	739	26	3	1898	3	PRMT5	14	23398403	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44312	23398403	83951137	13970	21682											
PSMB5	5693	broad.mit.edu	37	chr14	23502760	23502760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagaagctgcaatccgctgCgcccccagccatggtgccta	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23502760C>T	ENST00000361611.6	-	2	585	c.322G>A	c.(322-324)Gca>Aca	p.A108T	AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000493471.2_Missense_Mutation_p.A108T|PSMB5_ENST00000425762.2_Missense_Mutation_p.A5T|PSMB5_ENST00000460922.2_Intron	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	108					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity	p.A108T(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	CAATCCGCTGCGCCCCCAGCC	0.552													False	0	False	14:23502760	0	T	23502760	C	T	23502760	3	4	88	1	0	0	0	0	1	0	0	0	12756	768	27	1	566	1	PSMB5	14	23502760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104357	23502760	83846780	13971	21683											
PSMB5	5693	broad.mit.edu	37	chr14	23504175	23504175	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccgtcacagcttcacttcCtattaaatctattccggaat	5	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23504175C>A	ENST00000361611.6	-	0	179				PSMB5_ENST00000425762.2_Intron	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	GCTTCACTTCCTATTAAATCT	0.522													False	0	False	14:23504175	0	A	23504175	C	A	23504175	1	1	88	1	0	0	0	0	0	0	0	0	12756	696	24	3		3	PSMB5	14	23504175	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1415	23504175	83845365	13972	21684											
ACIN1	22985	broad.mit.edu	37	chr14	23528517	23528517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctttctctctctctctccCtgtccctctcccgactgtgc	4	21	4	0	rs140209940		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23528517C>A	ENST00000262710.1	-	19	4193	c.3866G>T	c.(3865-3867)aGg>aTg	p.R1289M	ACIN1_ENST00000557515.1_Missense_Mutation_p.R530M|ACIN1_ENST00000357481.2_Missense_Mutation_p.R531M|ACIN1_ENST00000397341.3_Missense_Mutation_p.R531M|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1276M|ACIN1_ENST00000338631.6_Missense_Mutation_p.R562M|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1231M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1249M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1289	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ctctctctccctgtccctctc	0.612											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	14:23528517	0	A	23528517	C	A	23528517	3	1	88	1	0	0	0	0	1	0	0	0	142	681	24	3	163	3	ACIN1	14	23528517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24342	23528517	83821023	13973	21685											
ACIN1	22985	broad.mit.edu	37	chr14	23528572	23528572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgctccagctgtcggttccGttcccgctcggcttccttct	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23528572G>A	ENST00000262710.1	-	19	4138	c.3811C>T	c.(3811-3813)Cgg>Tgg	p.R1271W	ACIN1_ENST00000557515.1_Missense_Mutation_p.R512W|ACIN1_ENST00000357481.2_Missense_Mutation_p.R513W|ACIN1_ENST00000397341.3_Missense_Mutation_p.R513W|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1258W|ACIN1_ENST00000338631.6_Missense_Mutation_p.R544W|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1213W|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1231W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1271	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGTCGGTTCCGTTCCCGCTCG	0.632											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	14:23528572	0	A	23528572	G	A	23528572	3	1	88	1	0	0	0	0	1	0	0	0	142	1144	40	1	218	1	ACIN1	14	23528572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55	23528572	83820968	13974	21686											
CEBPE	1053	broad.mit.edu	37	chr14	23587999	23587999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtagatgccaggccccagcGccttcctgtctgggccgaag	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23587999G>A	ENST00000206513.5	-	1	826	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AGGCCCCAGCGCCTTCCTGTC	0.701													False	0	False	14:23587999	0	A	23587999	G	A	23587999	3	1	88	1	0	0	0	0	1	0	0	0	3225	1087	38	1	551	1	CEBPE	14	23587999	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59427	23587999	83761541	13975	21687											
SLC7A8	23428	broad.mit.edu	37	chr14	23609809	23609809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattctcaaatgcattcTttggctccagccagaagtac	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23609809T>G	ENST00000316902.7	-	5	1384	c.659A>C	c.(658-660)aAg>aCg	p.K220T	SLC7A8_ENST00000529705.2_Missense_Mutation_p.K115T|SLC7A8_ENST00000469263.1_Missense_Mutation_p.K220T|SLC7A8_ENST00000453702.1_Missense_Mutation_p.K17T|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000422941.2_Intron	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	220					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AAATGCATTCTTTGGCTCCAG	0.567													False	0	True	14:23609809	0	G	23609809	T	G	23609809	3	3	88	1	0	0	0	0	1	0	0	0	14784	1609	56	4	976	4	SLC7A8	14	23609809	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21810	23609809	83739731	13976	21688											
PABPN1	8106	broad.mit.edu	37	chr14	23793419	23793419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacgagcccgctaccgcGcccggaccaccaactacaac	7	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23793419G>A	ENST00000397276.2	+	6	815	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	PABPN1_ENST00000216727.4_Missense_Mutation_p.A268T|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.A295T|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.A295T|PABPN1_ENST00000557702.1_Missense_Mutation_p.A140T|PABPN1_ENST00000556821.1_Missense_Mutation_p.A140T					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCGCTACCGCGCCCGGACCAC	0.567													False	0	True	14:23793419	0	A	23793419	G	A	23793419	3	1	88	1	0	0	0	0	1	0	0	0	11436	1087	38	1	824	1	PABPN1	14	23793419	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183610	23793419	83556121	13977	21689											
PABPN1	8106	broad.mit.edu	37	chr14	23793489	23793489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacagcaggccccggggtcGcgtctacaggtcaggataga	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23793489G>A	ENST00000397276.2	+	6	885	c.872G>A	c.(871-873)cGc>cAc	p.R291H	PABPN1_ENST00000216727.4_Missense_Mutation_p.R291H|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.R318H|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.R318H|PABPN1_ENST00000557702.1_Missense_Mutation_p.R163H|PABPN1_ENST00000556821.1_Missense_Mutation_p.R163H					poly(A) binding protein, nuclear 1									p.R291L(1)		large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCCCGGGGTCGCGTCTACAGG	0.632													False	0	False	14:23793489	0	A	23793489	G	A	23793489	3	1	88	1	0	0	0	0	1	0	0	0	11436	1087	38	1	894	1	PABPN1	14	23793489	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70	23793489	83556051	13978	21690											
SLC22A17	51310	broad.mit.edu	37	chr14	23821156	23821156	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcccgcctggccgcctcaCctggccgatggcgttggtgg	16	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821156C>T	ENST00000354772.3	-	2	771		c.e2+1		SLC22A17_ENST00000206544.8_Splice_Site|SLC22A17_ENST00000397260.3_Splice_Site|SLC22A17_ENST00000474057.1_Splice_Site|SLC22A17_ENST00000397267.1_Splice_Site	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17						siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGCCGCCTCACCTGGCCGATG	0.692													False	0	False	14:23821156	0	T	23821156	C	T	23821156	5	4	88	1	0	0	0	0	0	0	1	0	14529	521	18	2	1384	2	SLC22A17	14	23821156	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27667	23821156	83528384	13979	21691											
SLC22A17	51310	broad.mit.edu	37	chr14	23821267	23821267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgaggggtcggtactggTggcgacacggctggcggcgc	20	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821267T>C	ENST00000354772.3	-	2	660	c.157A>G	c.(157-159)Acc>Gcc	p.T53A	SLC22A17_ENST00000206544.8_Missense_Mutation_p.T53A|SLC22A17_ENST00000397260.3_5'UTR|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.T53A	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	53					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCGGTACTGGTGGCGACACGG	0.662													False	0	False	14:23821267	0	C	23821267	T	C	23821267	3	2	88	1	0	0	0	0	1	0	0	0	14529	1696	59	4	1495	4	SLC22A17	14	23821267	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	111	23821267	83528273	13980	21692											
SLC22A17	51310	broad.mit.edu	37	chr14	23821354	23821354	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgctcccagccagaggCattaggggggaaggccccgt	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821354C>T	ENST00000354772.3	-	2	573	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	SLC22A17_ENST00000206544.8_Missense_Mutation_p.A24T|SLC22A17_ENST00000397260.3_5'UTR|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Missense_Mutation_p.A24T	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	24					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGCCAGAGGCATTAGGGGGG	0.706													False	0	False	14:23821354	0	T	23821354	C	T	23821354	3	4	88	1	0	0	0	0	1	0	0	0	14529	710	25	2	1582	2	SLC22A17	14	23821354	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	23821354	83528186	13981	21693											
EFS	0	broad.mit.edu	37	chr14	23828965	23828965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccccgccctccccgtctGccagcagttcctcgggtgct	10	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23828965G>A	ENST00000216733.3	-	4	1329	c.722C>T	c.(721-723)gCa>gTa	p.A241V	EFS_ENST00000351354.3_Missense_Mutation_p.A148V|EFS_ENST00000429593.2_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	241	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CTCCCCGTCTGCCAGCAGTTC	0.657													False	0	False	14:23828965	0	A	23828965	G	A	23828965	3	1	88	1	0	0	0	0	1	0	0	0	4989	1319	46	2	975	2	EFS	14	23828965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7611	23828965	83520575	13982	21694											
MYH6	4624	broad.mit.edu	37	chr14	23855256	23855256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccagctcagcctgcagcaGgttgttgcgccgctccacga	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23855256G>T	ENST00000405093.3	-	34	5114	c.5044C>A	c.(5044-5046)Ctg>Atg	p.L1682M	MYH6_ENST00000356287.3_Missense_Mutation_p.L1682M	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1682					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTGCAGCAGGTTGTTGCGC	0.642													False	0	False	14:23855256	0	T	23855256	G	T	23855256	3	4	88	1	0	0	0	0	1	0	0	0	10105	991	35	3	799	3	MYH6	14	23855256	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26291	23855256	83494284	13983	21695											
MYH6	4624	broad.mit.edu	37	chr14	23856842	23856842	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctccttctcctagctgctCagtaaggtccgagatttcct	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23856842C>T	ENST00000405093.3	-	32	4616	c.4546G>A	c.(4546-4548)Gag>Aag	p.E1516K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1516K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1516					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTAGCTGCTCAGTAAGGTCC	0.587													False	0	False	14:23856842	0	T	23856842	C	T	23856842	3	4	88	1	0	0	0	0	1	0	0	0	10105	835	29	2	1305	2	MYH6	14	23856842	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1586	23856842	83492698	13984	21696											
MYH6	4624	broad.mit.edu	37	chr14	23857491	23857491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagtgaggagcacttgGcattaacagcctccacggcc	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23857491G>A	ENST00000405093.3	-	30	4302	c.4232C>T	c.(4231-4233)gCc>gTc	p.A1411V	MYH6_ENST00000356287.3_Missense_Mutation_p.A1411V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1411					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGAGCACTTGGCATTAACAGC	0.597													False	0	False	14:23857491	0	A	23857491	G	A	23857491	3	1	88	1	0	0	0	0	1	0	0	0	10105	1203	42	2	1627	2	MYH6	14	23857491	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	649	23857491	83492049	13985	21697											
MYH6	4624	broad.mit.edu	37	chr14	23873579	23873579	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcggggttggcctggatgaTctggtcctccagggtgccct	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23873579T>G	ENST00000405093.3	-	8	731	c.661A>C	c.(661-663)Atc>Ctc	p.I221L	MYH6_ENST00000356287.3_Missense_Mutation_p.I221L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	221	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTGGATGATCTGGTCCTCC	0.612													False	0	False	14:23873579	0	G	23873579	T	G	23873579	3	3	88	1	0	0	0	0	1	0	0	0	10105	1435	50	4	5286	4	MYH6	14	23873579	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16088	23873579	83475961	13986	21698											
MYH7	4625	broad.mit.edu	37	chr14	23886420	23886420	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttccagggactcctcataGgcgttcttgagtttgaagag	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23886420G>T	ENST00000355349.3	-	32	4623	c.4461C>A	c.(4459-4461)gcC>gcA	p.A1487A		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1487					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACTCCTCATAGGCGTTCTTGA	0.597													False	0	False	14:23886420	0	T	23886420	G	T	23886420	2	4	88	1	0	0	0	0	0	0	0	1	10106	987	35	3		3	MYH7	14	23886420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12841	23886420	83463120	13987	21699											
MYH7	4625	broad.mit.edu	37	chr14	23894565	23894565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggatacgcgtgatgatGcggctcagcctctcgtccct	12	14	2	2	rs139882431	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23894565G>A	ENST00000355349.3	-	21	2511	c.2349C>T	c.(2347-2349)cgC>cgT	p.R783R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	783	IQ.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCGTGATGATGCGGCTCAGCC	0.587													False	0	False	14:23894565	0	A	23894565	G	A	23894565	2	1	88	1	0	0	0	0	0	0	0	1	10106	1306	46	2		2	MYH7	14	23894565	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8145	23894565	83454975	13988	21700											
MYH7	4625	broad.mit.edu	37	chr14	23895007	23895007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgtccctcagggatggccGctgggttcaggatgcgatac	14	11	2	0	rs121913644	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23895007G>A	ENST00000355349.3	-	20	2345	c.2183C>T	c.(2182-2184)gCg>gTg	p.A728V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	728	Myosin head-like.		A -> V (in CMH1; in cis with M-606 gives a more severe phenotype).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGGATGGCCGCTGGGTTCAG	0.552													False	0	False	14:23895007	0	A	23895007	G	A	23895007	3	1	88	1	0	0	0	0	1	0	0	0	10106	1087	38	1	3708	1	MYH7	14	23895007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	442	23895007	83454533	13989	21701											
MYH7	4625	broad.mit.edu	37	chr14	23895227	23895227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcctttcctgcagatgCggatgccctccagcacacca	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23895227C>T	ENST00000355349.3	-	19	2270	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	703	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R703H(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTGCAGATGCGGATGCCCTC	0.602													False	0	False	14:23895227	0	T	23895227	C	T	23895227	3	4	88	1	0	0	0	0	1	0	0	0	10106	768	27	1	3787	1	MYH7	14	23895227	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220	23895227	83454313	13990	21702											
MYH7	4625	broad.mit.edu	37	chr14	23900200	23900200	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaaaataactctggatttttCcagaagatctgtgaacaggt	9	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23900200C>A	ENST00000355349.3	-	10	967	c.805G>T	c.(805-807)Gaa>Taa	p.E269*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	269	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTGGATTTTTCCAGAAGATCT	0.408													False	0	True	14:23900200	0	A	23900200	C	A	23900200	4	1	88	1	0	0	0	0	0	1	0	0	10106	864	30	3	5126	3	MYH7	14	23900200	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4973	23900200	83449340	13991	21703											
AP1G2	8906	broad.mit.edu	37	chr14	24033058	24033058	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagccaggcttagttccaGggctctcctggcaggagaaa	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24033058G>T	ENST00000308724.5	-	11	1854	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	AP1G2_ENST00000397120.3_Missense_Mutation_p.L367M|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	367					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTTAGTTCCAGGGCTCTCCTG	0.592													False	0	True	14:24033058	0	T	24033058	G	T	24033058	3	4	88	1	0	0	0	0	1	0	0	0	735	991	35	3	1302	3	AP1G2	14	24033058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132858	24033058	83316482	13992	21704											
AP1G2	8906	broad.mit.edu	37	chr14	24033572	24033572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcactgttgagtaggaagCgaccaagaatgttgacagct	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24033572C>T	ENST00000308724.5	-	9	1702	c.947G>A	c.(946-948)cGc>cAc	p.R316H	AP1G2_ENST00000397120.3_Missense_Mutation_p.R316H|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	316					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GAGTAGGAAGCGACCAAGAAT	0.532													False	0	False	14:24033572	0	T	24033572	C	T	24033572	3	4	88	1	0	0	0	0	1	0	0	0	735	768	27	1	1462	1	AP1G2	14	24033572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	514	24033572	83315968	13993	21705											
JPH4	84502	broad.mit.edu	37	chr14	24040262	24040262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctcaggctccgtgcctgCtggggccctcagcgggggca	18	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24040262C>T	ENST00000397118.3	-	6	2580	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T	JPH4_ENST00000356300.4_Missense_Mutation_p.A560T|JPH4_ENST00000544177.1_Missense_Mutation_p.A225T	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	560					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TCCGTGCCTGCTGGGGCCCTC	0.677													False	0	False	14:24040262	0	T	24040262	C	T	24040262	3	4	88	1	0	0	0	0	1	0	0	0	8013	797	28	2	216	2	JPH4	14	24040262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6690	24040262	83309278	13994	21706											
JPH4	84502	broad.mit.edu	37	chr14	24044904	24044904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgcccacctggcagcggCgatctcctggcgctgacggg	16	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24044904C>T	ENST00000397118.3	-	4	2043	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	JPH4_ENST00000356300.4_Missense_Mutation_p.A381T	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	381					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGGCAGCGGCGATCTCCTGG	0.687													False	0	False	14:24044904	0	T	24044904	C	T	24044904	3	4	88	1	0	0	0	0	1	0	0	0	8013	768	27	1	761	1	JPH4	14	24044904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4642	24044904	83304636	13995	21707											
JPH4	84502	broad.mit.edu	37	chr14	24045124	24045124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccggttgcccagccactcGccctcgtagcgcagcccgtt	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24045124G>A	ENST00000397118.3	-	4	1823	c.921C>T	c.(919-921)ggC>ggT	p.G307G	JPH4_ENST00000356300.4_Silent_p.G307G	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	307					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCAGCCACTCGCCCTCGTAGC	0.741													False	0	True	14:24045124	0	A	24045124	G	A	24045124	2	1	88	1	0	0	0	0	0	0	0	1	8013	1074	38	1		1	JPH4	14	24045124	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220	24045124	83304416	13996	21708											
DHRS4L2	317749	broad.mit.edu	37	chr14	24470603	24470603	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttctccagggcttcagtcCttacaatgtcagtaaaacag	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24470603C>A	ENST00000335125.6	+	6	668	c.542C>A	c.(541-543)cCt>cAt	p.P181H	DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.P179H|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.P106H|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.P106H	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	119							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GGCTTCAGTCCTTACAATGTC	0.478													False	0	False	14:24470603	0	A	24470603	C	A	24470603	3	1	88	1	0	0	0	0	1	0	0	0	4524	681	24	3	564	3	DHRS4L2	14	24470603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	425479	24470603	82878937	13997	21709											
LRRC16B	90668	broad.mit.edu	37	chr14	24523715	24523715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccaaggtctgccctggCcctgggtgagtggcaaataa	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24523715C>T	ENST00000342740.5	+	5	511	c.357C>T	c.(355-357)ggC>ggT	p.G119G	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	119										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TCTGCCCTGGCCCTGGGTGAG	0.582													False	0	True	14:24523715	0	T	24523715	C	T	24523715	2	4	88	1	0	0	0	0	0	0	0	1	9034	726	26	2		2	LRRC16B	14	24523715	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53112	24523715	82825825	13998	21710											
LRRC16B	90668	broad.mit.edu	37	chr14	24527939	24527939	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcagctgggagctgtcacCtgtgtaggcagcctggatct	15	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24527939C>A	ENST00000342740.5	+	18	1597	c.1443C>A	c.(1441-1443)acC>acA	p.T481T	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	481										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAGCTGTCACCTGTGTAGGCA	0.637											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	14:24527939	0	A	24527939	C	A	24527939	2	1	88	1	0	0	0	0	0	0	0	1	9034	668	24	3		3	LRRC16B	14	24527939	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4224	24527939	82821601	13999	21711											
PCK2	5106	broad.mit.edu	37	chr14	24566204	24566204	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccagcttcccactggcattCgagattttgtagagcacagt	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24566204C>T	ENST00000216780.4	+	2	401	c.133C>T	c.(133-135)Cga>Tga	p.R45*	PCK2_ENST00000545054.2_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000396973.4_Nonsense_Mutation_p.R45*|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000559250.1_Nonsense_Mutation_p.R57*	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	45					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CACTGGCATTCGAGATTTTGT	0.577													False	0	False	14:24566204	0	T	24566204	C	T	24566204	4	4	88	1	0	0	0	0	0	1	0	0	11650	876	31	1	139	1	PCK2	14	24566204	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38265	24566204	82783336	14000	21712											
PCK2	5106	broad.mit.edu	37	chr14	24567497	24567497	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctcagcgggacacggtaCaactcccgcctggtggggcc	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24567497C>T	ENST00000216780.4	+	3	629	c.361C>T	c.(361-363)Caa>Taa	p.Q121*	PCK2_ENST00000545054.2_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000396973.4_Nonsense_Mutation_p.Q121*|PCK2_ENST00000561286.1_5'UTR|PCK2_ENST00000559250.1_Nonsense_Mutation_p.Q133*	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	121				Q -> P (in Ref. 1; CAA63380, 2; CAA72272 and 5; AAH01454).	gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGACACGGTACAACTCCCGCC	0.627													False	0	False	14:24567497	0	T	24567497	C	T	24567497	4	4	88	1	0	0	0	0	0	1	0	0	11650	479	17	2	371	2	PCK2	14	24567497	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1293	24567497	82782043	14001	21713											
PCK2	5106	broad.mit.edu	37	chr14	24568398	24568398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctttgccctacgcatcGcctctcggctggcccgggat	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24568398G>A	ENST00000545054.2	+	5	1321	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.A135T|PCK2_ENST00000216780.4_Missense_Mutation_p.A269T|PCK2_ENST00000396973.4_Missense_Mutation_p.A269T|PCK2_ENST00000561286.1_Missense_Mutation_p.A135T|PCK2_ENST00000559250.1_Missense_Mutation_p.A281T			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	269					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CCTACGCATCGCCTCTCGGCT	0.672													False	0	False	14:24568398	0	A	24568398	G	A	24568398	3	1	88	1	0	0	0	0	1	0	0	0	11650	1087	38	1	823	1	PCK2	14	24568398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	901	24568398	82781142	14002	21714											
DCAF11	0	broad.mit.edu	37	chr14	24587623	24587623	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatccgactctatgactgcCgatatggccgtttccgtaaa	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24587623C>T	ENST00000446197.3	+	7	1331	c.604C>T	c.(604-606)Cga>Tga	p.R202*	DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000396941.4_Nonsense_Mutation_p.R176*|DCAF11_ENST00000559115.1_Nonsense_Mutation_p.R202*|DCAF11_ENST00000396936.1_Nonsense_Mutation_p.R102*	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	202						CUL4 RING ubiquitin ligase complex	protein binding										CTATGACTGCCGATATGGCCG	0.488													False	0	False	14:24587623	0	T	24587623	C	T	24587623	4	4	88	1	0	0	0	0	0	1	0	0	4287	644	23	1	626	1	DCAF11	14	24587623	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19225	24587623	82761917	14003	21715											
PSME1	5720	broad.mit.edu	37	chr14	24607694	24607694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccacagggtgattatcgGcagctggtgcacgagctgga	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24607694G>A	ENST00000382708.3	+	10	657	c.594G>A	c.(592-594)cgG>cgA	p.R198R	PSME1_ENST00000559123.1_Silent_p.R39R|PSME1_ENST00000206451.6_Silent_p.R198R|PSME1_ENST00000561435.1_Silent_p.R198R	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	198					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GTGATTATCGGCAGCTGGTGC	0.607													False	0	False	14:24607694	0	A	24607694	G	A	24607694	2	1	88	1	0	0	0	0	0	0	0	1	12782	1190	42	2		2	PSME1	14	24607694	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20071	24607694	82741846	14004	21716											
RNF31	55072	broad.mit.edu	37	chr14	24617572	24617572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcaccaggttgctacaGtcacactggaagtactgctg	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24617572G>A	ENST00000324103.6	+	3	765	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	RNF31_ENST00000559275.1_5'UTR|RNF31_ENST00000557878.1_3'UTR	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	149	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GGTTGCTACAGTCACACTGGA	0.557													False	0	False	14:24617572	0	A	24617572	G	A	24617572	3	1	88	1	0	0	0	0	1	0	0	0	13566	1029	36	2	455	2	RNF31	14	24617572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9878	24617572	82731968	14005	21717											
RNF31	55072	broad.mit.edu	37	chr14	24619877	24619877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcactgtaccttctgcaactCgagccctggctgggtgtgtg	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24619877C>T	ENST00000324103.6	+	8	1588	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	RNF31_ENST00000559275.1_Missense_Mutation_p.S272L|RNF31_ENST00000382687.3_Missense_Mutation_p.S272L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	423	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TTCTGCAACTCGAGCCCTGGC	0.557													False	0	False	14:24619877	0	T	24619877	C	T	24619877	3	4	88	1	0	0	0	0	1	0	0	0	13566	893	31	1	1298	1	RNF31	14	24619877	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2305	24619877	82729663	14006	21718											
RNF31	55072	broad.mit.edu	37	chr14	24619958	24619958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccccccggccctatgccaGctctttggaaaagggacccc	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24619958G>T	ENST00000324103.6	+	8	1669	c.1349G>T	c.(1348-1350)aGc>aTc	p.S450I	RNF31_ENST00000559275.1_Missense_Mutation_p.S299I|RNF31_ENST00000382687.3_Missense_Mutation_p.S299I	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	450	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCCTATGCCAGCTCTTTGGAA	0.612													False	0	False	14:24619958	0	T	24619958	G	T	24619958	3	4	88	1	0	0	0	0	1	0	0	0	13566	971	34	3	1379	3	RNF31	14	24619958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	24619958	82729582	14007	21719											
IRF9	10379	broad.mit.edu	37	chr14	24635385	24635385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactccagagcagcaggcaGccattctgtccctggtgtag	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24635385G>A	ENST00000396864.3	+	9	1449	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.S328N	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	388					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.A388T(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GCAGCAGGCAGCCATTCTGTC	0.527													False	0	True	14:24635385	0	A	24635385	G	A	24635385	3	1	88	1	0	0	0	0	1	0	0	0	7887	971	34	2	1192	2	IRF9	14	24635385	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15427	24635385	82714155	14008	21720											
REC8	9985	broad.mit.edu	37	chr14	24642111	24642111	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcattgttccccagcgaGgaaatcctcaattacgtgct	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24642111G>A	ENST00000311457.3	+	4	728	c.129G>A	c.(127-129)gaG>gaA	p.E43E	REC8_ENST00000559919.1_Silent_p.E43E			O95072	REC8_HUMAN	REC8 meiotic recombination protein	43					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TCCCCAGCGAGGAAATCCTCA	0.647													False	0	False	14:24642111	0	A	24642111	G	A	24642111	2	1	88	1	0	0	0	0	0	0	0	1	13278	991	35	2		2	REC8	14	24642111	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6726	24642111	82707429	14009	21721											
REC8	9985	broad.mit.edu	37	chr14	24646361	24646361	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggacagggtgaacgggaGctcccagaggtcagccgccg	16	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24646361G>A	ENST00000311457.3	+	9	1235	c.636G>A	c.(634-636)gaG>gaA	p.E212E	REC8_ENST00000559919.1_Silent_p.E212E			O95072	REC8_HUMAN	REC8 meiotic recombination protein	212	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GTGAACGGGAGCTCCCAGAGG	0.557													False	0	False	14:24646361	0	A	24646361	G	A	24646361	2	1	88	1	0	0	0	0	0	0	0	1	13278	962	34	2		2	REC8	14	24646361	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4250	24646361	82703179	14010	21722											
REC8	9985	broad.mit.edu	37	chr14	24646947	24646947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaggagctgcgtctgccaGccccacccagcccagaggtg	14	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24646947G>A	ENST00000311457.3	+	12	1443	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	REC8_ENST00000559919.1_Missense_Mutation_p.A282T			O95072	REC8_HUMAN	REC8 meiotic recombination protein	283	Glu-rich.|Pro-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GCGTCTGCCAGCCCCACCCAG	0.637													False	0	True	14:24646947	0	A	24646947	G	A	24646947	3	1	88	1	0	0	0	0	1	0	0	0	13278	971	34	2	886	2	REC8	14	24646947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	586	24646947	82702593	14011	21723											
IPO4	79711	broad.mit.edu	37	chr14	24651000	24651000	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacggacacgatcatgtcGctcccgcgccaggaggggaa	14	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24651000G>A	ENST00000354464.6	-	27	3033	c.2857C>T	c.(2857-2859)Cga>Tga	p.R953*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	953					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CGATCATGTCGCTCCCGCGCC	0.612													False	0	False	14:24651000	0	A	24651000	G	A	24651000	4	1	88	1	0	0	0	0	0	1	0	0	7845	1095	38	1	404	1	IPO4	14	24651000	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4053	24651000	82698540	14012	21724											
IPO4	79711	broad.mit.edu	37	chr14	24652349	24652349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgcatgtaggatggcaCgactcgggccagggcagcct	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24652349C>T	ENST00000354464.6	-	23	2430	c.2254G>A	c.(2254-2256)Gtg>Atg	p.V752M	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	752					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TAGGATGGCACGACTCGGGCC	0.662													False	0	False	14:24652349	0	T	24652349	C	T	24652349	3	4	88	1	0	0	0	0	1	0	0	0	7845	536	19	1	1023	1	IPO4	14	24652349	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1349	24652349	82697191	14013	21725											
TM9SF1	10548	broad.mit.edu	37	chr14	24658926	24658926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacactcagcaggatggCgaagacaaagaagaggatgc	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24658926C>T	ENST00000556387.1	-	10	2176	c.2143G>A	c.(2143-2145)Gcc>Acc	p.A715T	TM9SF1_ENST00000261789.4_Missense_Mutation_p.A506T|TM9SF1_ENST00000524835.1_Missense_Mutation_p.A419T|RP11-468E2.2_ENST00000561419.1_Silent_p.S42S|TM9SF1_ENST00000530611.1_Missense_Mutation_p.A715T|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A489T			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	506					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGCAGGATGGCGAAGACAAAG	0.527													False	0	False	14:24658926	0	T	24658926	C	T	24658926	3	4	88	1	0	0	0	0	1	0	0	0	16059	768	27	1	308	1	TM9SF1	14	24658926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6577	24658926	82690614	14014	21726											
TM9SF1	10548	broad.mit.edu	37	chr14	24679567	24679567	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatacctggccctgccggCagatgagtagaaggtacact	12	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24679567C>T	ENST00000556387.1	-	5	630	c.597G>A	c.(595-597)ctG>ctA	p.L199L	CHMP4A_ENST00000347519.6_Silent_p.L242L|CHMP4A_ENST00000542700.2_5'UTR|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000530611.1_Silent_p.L199L|CHMP4A_ENST00000530996.1_Silent_p.L94L|CHMP4A_ENST00000609024.1_Silent_p.L199L			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GCCCTGCCGGCAGATGAGTAG	0.502													False	0	False	14:24679567	0	T	24679567	C	T	24679567	2	4	88	1	0	0	0	0	0	0	0	1	16059	697	25	2		2	TM9SF1	14	24679567	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20641	24679567	82669973	14015	21727											
TM9SF1	10548	broad.mit.edu	37	chr14	24679614	24679614	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttgactgagggttcttcttCcttgtcgcccacatttaaca	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24679614C>A	ENST00000556387.1	-	5	583	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	CHMP4A_ENST00000347519.6_Nonsense_Mutation_p.E227*|CHMP4A_ENST00000542700.2_5'UTR|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000530611.1_Nonsense_Mutation_p.E184*|CHMP4A_ENST00000530996.1_Nonsense_Mutation_p.E79*|CHMP4A_ENST00000609024.1_Nonsense_Mutation_p.E184*			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GGTTCTTCTTCCTTGTCGCCC	0.517													False	0	True	14:24679614	0	A	24679614	C	A	24679614	4	1	88	1	0	0	0	0	0	1	0	0	16059	864	30	3		3	TM9SF1	14	24679614	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47	24679614	82669926	14016	21728											
MDP1	145553	broad.mit.edu	37	chr14	24683242	24683242	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagtttaggcctcaaaTgggctctcctcaaggctgga	10	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24683242T>C	ENST00000288087.7	-	6	630	c.519A>G	c.(517-519)ccA>ccG	p.P173P	MDP1_ENST00000396833.2_3'UTR|MDP1_ENST00000532557.1_5'UTR|AL136419.6_ENST00000565988.1_RNA	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						AGGCCTCAAATGGGCTCTCCT	0.423													False	0	True	14:24683242	0	C	24683242	T	C	24683242	2	2	88	1	0	0	0	0	0	0	0	1	9483	1451	51	4		4	MDP1	14	24683242	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3628	24683242	82666298	14017	21729											
MDP1	145553	broad.mit.edu	37	chr14	24683543	24683543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgacgtctacaatattccGcctctcatcatcaaagaaga	6	12	4	3	rs2295317	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24683543G>A	ENST00000288087.7	-	5	487	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	MDP1_ENST00000396833.2_Intron|MDP1_ENST00000532557.1_Intron|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R143W	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						ACAATATTCCGCCTCTCATCA	0.458													False	0	False	14:24683543	0	A	24683543	G	A	24683543	3	1	88	1	0	0	0	0	1	0	0	0	9483	1086	38	1	162	1	MDP1	14	24683543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	301	24683543	82665997	14018	21730											
MDP1	145553	broad.mit.edu	37	chr14	24684946	24684946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtccctacctcacctgCtcttatggaacggagggtct	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24684946C>T	ENST00000288087.7	-	2	206	c.95G>A	c.(94-96)aGc>aAc	p.S32N	MDP1_ENST00000396833.2_Missense_Mutation_p.S32N|MDP1_ENST00000532557.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000534348.1_Intron|NEDD8-MDP1_ENST00000604306.1_5'UTR	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						ACCTCACCTGCTCTTATGGAA	0.597											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	14:24684946	0	T	24684946	C	T	24684946	3	4	88	1	0	0	0	0	1	0	0	0	9483	797	28	2	455	2	MDP1	14	24684946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1403	24684946	82664594	14019	21731											
TINF2	26277	broad.mit.edu	37	chr14	24710962	24710962	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttcctgtgcctccaaaatCttcctcagatcctgctttgt	6	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24710962C>A	ENST00000399423.4	-	3	648	c.318G>T	c.(316-318)aaG>aaT	p.K106N	TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.K71N|TINF2_ENST00000558566.1_Missense_Mutation_p.K106N|TINF2_ENST00000267415.7_Missense_Mutation_p.K106N	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	106					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CCTCCAAAATCTTCCTCAGAT	0.493									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				False	0	False	14:24710962	0	A	24710962	C	A	24710962	3	1	88	1	0	0	0	0	1	0	0	0	16005	912	32	3	1069	3	TINF2	14	24710962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26016	24710962	82638578	14020	21732											
TGM1	7051	broad.mit.edu	37	chr14	24724683	24724683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataaacaatcttgaagctgCcatcatcctgccgctgccag	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24724683C>T	ENST00000206765.6	-	11	1655	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	TGM1_ENST00000544573.1_Missense_Mutation_p.G69D	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	511					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTTGAAGCTGCCATCATCCTG	0.552													False	0	False	14:24724683	0	T	24724683	C	T	24724683	3	4	88	1	0	0	0	0	1	0	0	0	15911	739	26	2	941	2	TGM1	14	24724683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13721	24724683	82624857	14021	21733											
TGM1	7051	broad.mit.edu	37	chr14	24729006	24729006	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataagcaggcatccagcacCccgtggtcaaactggaagga	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24729006C>T	ENST00000206765.6	-	6	1011	c.888G>A	c.(886-888)ggG>ggA	p.G296G	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	296					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CATCCAGCACCCCGTGGTCAA	0.627													False	0	True	14:24729006	0	T	24729006	C	T	24729006	2	4	88	1	0	0	0	0	0	0	0	1	15911	610	22	2		2	TGM1	14	24729006	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4323	24729006	82620534	14022	21734											
TGM1	7051	broad.mit.edu	37	chr14	24729184	24729184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctcaccaatctgtgcttCggtcccgtagtaaattctcc	7	15	3	0	rs150181059		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24729184C>T	ENST00000206765.6	-	5	961	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	280					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ATCTGTGCTTCGGTCCCGTAG	0.572													False	0	False	14:24729184	0	T	24729184	C	T	24729184	3	4	88	1	0	0	0	0	1	0	0	0	15911	893	31	1	1659	1	TGM1	14	24729184	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178	24729184	82620356	14023	21735											
TGM1	7051	broad.mit.edu	37	chr14	24731070	24731070	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagctcagcaagtccacaccGttcactactagcatgccctc	7	16	2	0	rs144651432		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24731070G>C	ENST00000206765.6	-	3	462	c.339C>G	c.(337-339)aaC>aaG	p.N113K	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	113					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGTCCACACCGTTCACTACTA	0.592													False	0	False	14:24731070	0	C	24731070	G	C	24731070	3	2	88	1	0	0	0	0	1	0	0	0	15911	1136	40	5	2166	5	TGM1	14	24731070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1886	24731070	82618470	14024	21736											
DHRS1	115817	broad.mit.edu	37	chr14	24768170	24768170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagcactcacctcctgaGcaacaacgcgaagggtgtcc	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24768170G>A	ENST00000288111.7	-	2	419	c.143C>T	c.(142-144)gCt>gTt	p.A48V	DHRS1_ENST00000396813.1_Missense_Mutation_p.A48V	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	48						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		CACCTCCTGAGCAACAACGCG	0.557													False	0	False	14:24768170	0	A	24768170	G	A	24768170	3	1	88	1	0	0	0	0	1	0	0	0	4516	971	34	2	830	2	DHRS1	14	24768170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37100	24768170	82581370	14025	21737											
LTB4R2	56413	broad.mit.edu	37	chr14	24780826	24780826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcccgagggggcggccGctctagggaagggaccatgg	21	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24780826G>A	ENST00000528054.1	+	1	2666	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	LTB4R2_ENST00000543919.1_Missense_Mutation_p.R319H|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R319H|LTB4R_ENST00000345363.3_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	350					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGGGGCGGCCGCTCTAGGGAA	0.677													False	0	False	14:24780826	0	A	24780826	G	A	24780826	3	1	88	1	0	0	0	0	1	0	0	0	9134	1087	38	1	958	1	LTB4R2	14	24780826	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12656	24780826	82568714	14026	21738											
RIPK3	11035	broad.mit.edu	37	chr14	24806143	24806143	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaccagttcatgccttgtctCtcagccccctgcaaacagca	7	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24806143C>A	ENST00000216274.5	-	9	1502	c.1284G>T	c.(1282-1284)gaG>gaT	p.E428D	RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.E102D	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	428					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TGCCTTGTCTCTCAGCCCCCT	0.557													False	0	True	14:24806143	0	A	24806143	C	A	24806143	3	1	88	1	0	0	0	0	1	0	0	0	13461	912	32	3	280	3	RIPK3	14	24806143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25317	24806143	82543397	14027	21739											
RIPK3	11035	broad.mit.edu	37	chr14	24808519	24808519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccatggccttgacctccctgGatatcgccttcctacactcc	6	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24808519G>T	ENST00000216274.5	-	3	391	c.173C>A	c.(172-174)tCc>tAc	p.S58Y	RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	58	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GACCTCCCTGGATATCGCCTT	0.587													False	0	False	14:24808519	0	T	24808519	G	T	24808519	3	4	88	1	0	0	0	0	1	0	0	0	13461	1174	41	3	1415	3	RIPK3	14	24808519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2376	24808519	82541021	14028	21740											
NFATC4	4776	broad.mit.edu	37	chr14	24838944	24838944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggccgtgttctcgagtgtCccagcatccgcatcacctcc	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24838944C>T	ENST00000413692.2	+	3	673	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	NFATC4_ENST00000557451.1_Missense_Mutation_p.P44S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P146S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P102S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P146S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P177S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P44S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P127S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P114S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P102S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P102S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P44S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000424781.2_Missense_Mutation_p.P127S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P114S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P44S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P114S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P127S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P146S	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	114	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCTCGAGTGTCCCAGCATCCG	0.687													False	0	True	14:24838944	0	T	24838944	C	T	24838944	3	4	88	1	0	0	0	0	1	0	0	0	10433	855	30	2	539	2	NFATC4	14	24838944	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30425	24838944	82510596	14029	21741											
NFATC4	4776	broad.mit.edu	37	chr14	24839076	24839076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgggggctacagagaaGcagggggccagggtgggggg	23	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24839076G>A	ENST00000413692.2	+	3	805	c.661G>A	c.(661-663)Gca>Aca	p.A221T	NFATC4_ENST00000557451.1_Missense_Mutation_p.A88T|NFATC4_ENST00000539237.2_Missense_Mutation_p.A190T|NFATC4_ENST00000556169.1_Missense_Mutation_p.A146T|NFATC4_ENST00000553469.1_Missense_Mutation_p.A190T|NFATC4_ENST00000554591.1_Missense_Mutation_p.A221T|NFATC4_ENST00000554344.1_Missense_Mutation_p.A88T|NFATC4_ENST00000554966.1_Missense_Mutation_p.A171T|NFATC4_ENST00000554050.1_Missense_Mutation_p.A158T|NFATC4_ENST00000555453.1_Missense_Mutation_p.A146T|NFATC4_ENST00000422617.3_Missense_Mutation_p.A146T|NFATC4_ENST00000553879.1_Missense_Mutation_p.A88T|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000424781.2_Missense_Mutation_p.A171T|NFATC4_ENST00000553708.1_Missense_Mutation_p.A158T|NFATC4_ENST00000554661.1_Missense_Mutation_p.A88T|NFATC4_ENST00000250373.4_Missense_Mutation_p.A158T|NFATC4_ENST00000555590.1_Missense_Mutation_p.A171T|NFATC4_ENST00000556279.1_Missense_Mutation_p.A190T	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	158	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTACAGAGAAGCAGGGGGCCA	0.667													False	0	False	14:24839076	0	A	24839076	G	A	24839076	3	1	88	1	0	0	0	0	1	0	0	0	10433	971	34	2	671	2	NFATC4	14	24839076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132	24839076	82510464	14030	21742											
NFATC4	4776	broad.mit.edu	37	chr14	24843013	24843013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggtgttccgggtacacGtgccccagggcggcgggaag	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24843013G>A	ENST00000413692.2	+	6	2005	c.1861G>A	c.(1861-1863)Gtg>Atg	p.V621M	NFATC4_ENST00000557451.1_Missense_Mutation_p.V488M|NFATC4_ENST00000539237.2_Missense_Mutation_p.V590M|NFATC4_ENST00000556169.1_Missense_Mutation_p.V546M|NFATC4_ENST00000553469.1_Missense_Mutation_p.V590M|NFATC4_ENST00000554591.1_Missense_Mutation_p.V621M|NFATC4_ENST00000554344.1_Missense_Mutation_p.V488M|NFATC4_ENST00000554966.1_Missense_Mutation_p.V571M|NFATC4_ENST00000554473.1_Missense_Mutation_p.V93M|NFATC4_ENST00000554050.1_Missense_Mutation_p.V558M|NFATC4_ENST00000555453.1_Missense_Mutation_p.V546M|NFATC4_ENST00000555167.1_Missense_Mutation_p.V93M|NFATC4_ENST00000422617.3_Missense_Mutation_p.V546M|NFATC4_ENST00000556759.1_Missense_Mutation_p.V93M|NFATC4_ENST00000553879.1_Missense_Mutation_p.V488M|NFATC4_ENST00000424781.2_Missense_Mutation_p.V571M|NFATC4_ENST00000553708.1_Missense_Mutation_p.V558M|NFATC4_ENST00000554661.1_Missense_Mutation_p.V488M|NFATC4_ENST00000250373.4_Missense_Mutation_p.V558M|NFATC4_ENST00000555590.1_Missense_Mutation_p.V571M|NFATC4_ENST00000556279.1_Missense_Mutation_p.V590M	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	558	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCGGGTACACGTGCCCCAGGG	0.592													False	0	False	14:24843013	0	A	24843013	G	A	24843013	3	1	88	1	0	0	0	0	1	0	0	0	10433	1145	40	1	1883	1	NFATC4	14	24843013	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3937	24843013	82506527	14031	21743											
NFATC4	4776	broad.mit.edu	37	chr14	24843536	24843536	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgcactgctctgcagcccaGcgctcagcccaggagctgcc	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24843536G>T	ENST00000413692.2	+	7	2070	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H	NFATC4_ENST00000557451.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000539237.2_Missense_Mutation_p.Q611H|NFATC4_ENST00000556169.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000553469.1_Missense_Mutation_p.Q611H|NFATC4_ENST00000554591.1_Missense_Mutation_p.Q642H|NFATC4_ENST00000554344.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000554966.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000555802.1_5'UTR|NFATC4_ENST00000554473.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000554050.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000555453.1_Missense_Mutation_p.Q567H|NFATC4_ENST00000555167.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000422617.3_Missense_Mutation_p.Q567H|NFATC4_ENST00000556759.1_Missense_Mutation_p.Q114H|NFATC4_ENST00000553879.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000424781.2_Missense_Mutation_p.Q592H|NFATC4_ENST00000553708.1_Missense_Mutation_p.Q579H|NFATC4_ENST00000554661.1_Missense_Mutation_p.Q509H|NFATC4_ENST00000250373.4_Missense_Mutation_p.Q579H|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000555590.1_Missense_Mutation_p.Q592H|NFATC4_ENST00000556279.1_Missense_Mutation_p.Q611H	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	579	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGCAGCCCAGCGCTCAGCCC	0.647													False	0	False	14:24843536	0	T	24843536	G	T	24843536	3	4	88	1	0	0	0	0	1	0	0	0	10433	962	34	3	1952	3	NFATC4	14	24843536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	523	24843536	82506004	14032	21744											
NYNRIN	57523	broad.mit.edu	37	chr14	24877090	24877090	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaggaatacctgaagggcCtgtgcagcccagagctgtgg	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877090C>A	ENST00000382554.3	+	3	532	c.214C>A	c.(214-216)Ctg>Atg	p.L72M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	72					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGAAGGGCCTGTGCAGCCC	0.627													False	0	False	14:24877090	0	A	24877090	C	A	24877090	3	1	88	1	0	0	0	0	1	0	0	0	10864	680	24	3	220	3	NYNRIN	14	24877090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33554	24877090	82472450	14033	21745											
NYNRIN	57523	broad.mit.edu	37	chr14	24877717	24877717	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagcacaccgcaggaggcaGcaaaccagctggtacggtaa	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877717G>T	ENST00000382554.3	+	3	1159	c.841G>T	c.(841-843)Gca>Tca	p.A281S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	281					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCAGGAGGCAGCAAACCAGCT	0.542													False	0	False	14:24877717	0	T	24877717	G	T	24877717	3	4	88	1	0	0	0	0	1	0	0	0	10864	971	34	3	847	3	NYNRIN	14	24877717	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	627	24877717	82471823	14034	21746											
NYNRIN	57523	broad.mit.edu	37	chr14	24877997	24877997	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaagatagaagataaactcCtcttccaacctccagtatca	5	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877997C>A	ENST00000382554.3	+	4	1315	c.997C>A	c.(997-999)Ctc>Atc	p.L333I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	333					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGATAAACTCCTCTTCCAACC	0.592													False	0	False	14:24877997	0	A	24877997	C	A	24877997	3	1	88	1	0	0	0	0	1	0	0	0	10864	681	24	3	1007	3	NYNRIN	14	24877997	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280	24877997	82471543	14035	21747											
NYNRIN	57523	broad.mit.edu	37	chr14	24878150	24878150	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tacatctggcctggctcctgTcccaggcgtgcttcaatttc	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24878150T>A	ENST00000382554.3	+	4	1468	c.1150T>A	c.(1150-1152)Tcc>Acc	p.S384T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	384					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGGCTCCTGTCCCAGGCGTG	0.577													False	0	True	14:24878150	0	A	24878150	T	A	24878150	3	1	88	1	0	0	0	0	1	0	0	0	10864	1667	58	5	1160	5	NYNRIN	14	24878150	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	153	24878150	82471390	14036	21748											
NYNRIN	57523	broad.mit.edu	37	chr14	24880593	24880593	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacgaagctacactcgctcaAgatgctttcaatcacaccct	6	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24880593A>C	ENST00000382554.3	+	6	2897	c.2579A>C	c.(2578-2580)aAg>aCg	p.K860T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	860					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CACTCGCTCAAGATGCTTTCA	0.552											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	14:24880593	0	C	24880593	A	C	24880593	3	2	88	1	0	0	0	0	1	0	0	0	10864	72	3	4	2597	4	NYNRIN	14	24880593	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2443	24880593	82468947	14037	21749											
NYNRIN	57523	broad.mit.edu	37	chr14	24884117	24884117	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgatggggccctggacatCgacctcctgccaggggcagc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24884117C>T	ENST00000382554.3	+	9	3480	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1054					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCTGGACATCGACCTCCTGC	0.652													False	0	False	14:24884117	0	T	24884117	C	T	24884117	2	4	88	1	0	0	0	0	0	0	0	1	10864	874	31	1		1	NYNRIN	14	24884117	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3524	24884117	82465423	14038	21750											
NYNRIN	57523	broad.mit.edu	37	chr14	24884802	24884802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcctgctgggggagaacCgcctgctcacccccgcggcc	15	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24884802C>T	ENST00000382554.3	+	9	4165	c.3847C>T	c.(3847-3849)Cgc>Tgc	p.R1283C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1283					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGGGGAGAACCGCCTGCTCAC	0.612													False	0	False	14:24884802	0	T	24884802	C	T	24884802	3	4	88	1	0	0	0	0	1	0	0	0	10864	652	23	1	3877	1	NYNRIN	14	24884802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	685	24884802	82464738	14039	21751											
NYNRIN	57523	broad.mit.edu	37	chr14	24885464	24885464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggcagaaactgtctggCtcctcaccgtttagttctgc	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24885464C>T	ENST00000382554.3	+	9	4827	c.4509C>T	c.(4507-4509)ggC>ggT	p.G1503G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1503					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AACTGTCTGGCTCCTCACCGT	0.552													False	0	False	14:24885464	0	T	24885464	C	T	24885464	2	4	88	1	0	0	0	0	0	0	0	1	10864	784	28	2		2	NYNRIN	14	24885464	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	662	24885464	82464076	14040	21752											
NYNRIN	57523	broad.mit.edu	37	chr14	24886379	24886379	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagggtggctgacaaggcGagtgaaaaggccgagaacag	18	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24886379G>A	ENST00000382554.3	+	9	5742	c.5424G>A	c.(5422-5424)gcG>gcA	p.A1808A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1808					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGACAAGGCGAGTGAAAAGG	0.582													False	0	False	14:24886379	0	A	24886379	G	A	24886379	2	1	88	1	0	0	0	0	0	0	0	1	10864	1045	37	1		1	NYNRIN	14	24886379	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	915	24886379	82463161	14041	21753											
KHNYN	23351	broad.mit.edu	37	chr14	24900668	24900668	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccttcccttcctcccaaccaGgagtacctgaagggcctctg	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24900668G>T	ENST00000251343.5	+	3	340		c.e3-1		KHNYN_ENST00000553935.1_Splice_Site|KHNYN_ENST00000556842.1_Splice_Site			O15037	KHNYN_HUMAN	KH and NYN domain containing											kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTCCCAACCAGGAGTACCTGA	0.562											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	14:24900668	0	T	24900668	G	T	24900668	5	4	88	1	0	0	0	0	0	0	1	0	8200	1014	35	3	207	3	KHNYN	14	24900668	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14289	24900668	82448872	14042	21754											
KHNYN	23351	broad.mit.edu	37	chr14	24901383	24901383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacccctgaaagggaagGccctggggaaggaggagata	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24901383G>A	ENST00000251343.5	+	3	1055	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	KHNYN_ENST00000553935.1_Missense_Mutation_p.A306T|KHNYN_ENST00000556842.1_Missense_Mutation_p.A306T			O15037	KHNYN_HUMAN	KH and NYN domain containing	306										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAAGGGAAGGCCCTGGGGAA	0.647											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	14:24901383	0	A	24901383	G	A	24901383	3	1	88	1	0	0	0	0	1	0	0	0	8200	1203	42	2	922	2	KHNYN	14	24901383	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	715	24901383	82448157	14043	21755											
CMA1	1215	broad.mit.edu	37	chr14	24976656	24976656	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttggaagttacaatttccaGgtaggccatgtaggggcggg	16	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24976656G>T	ENST00000250378.3	-	2	144	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	39	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ACAATTTCCAGGTAGGCCATG	0.517													False	0	False	14:24976656	0	T	24976656	G	T	24976656	3	4	88	1	0	0	0	0	1	0	0	0	3597	991	35	3	644	3	CMA1	14	24976656	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75273	24976656	82372884	14044	21756											
CTSG	1511	broad.mit.edu	37	chr14	25044478	25044478	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttagctcctcaccttccccAgcaatgagctgctgtcagca	7	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:25044478A>G	ENST00000216336.2	-	2	232	c.196T>C	c.(196-198)Tgg>Cgg	p.W66R		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	66	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CACCTTCCCCAGCAATGAGCT	0.552													False	0	True	14:25044478	0	G	25044478	A	G	25044478	3	3	88	1	0	0	0	0	1	0	0	0	4060	188	7	4	587	4	CTSG	14	25044478	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67822	25044478	82305062	14045	21757											
STXBP6	0	broad.mit.edu	37	chr14	25288317	25288317	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctctgctcggcctaatcGctctccacgctcattcaagg	7	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:25288317G>A	ENST00000323944.5	-	5	986	c.535C>T	c.(535-537)Cga>Tga	p.R179*	STXBP6_ENST00000548724.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000358326.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000546511.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000548369.1_Nonsense_Mutation_p.R77*|STXBP6_ENST00000419632.2_Nonsense_Mutation_p.R179*|STXBP6_ENST00000550887.1_Nonsense_Mutation_p.R179*|STXBP6_ENST00000396700.1_Nonsense_Mutation_p.R179*			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	179	v-SNARE coiled-coil homology.				vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CGGCCTAATCGCTCTCCACGC	0.567													False	0	False	14:25288317	0	A	25288317	G	A	25288317	4	1	88	1	0	0	0	0	0	1	0	0	15440	1095	38	1	105	1	STXBP6	14	25288317	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243839	25288317	82061223	14046	21758											
NOVA1	4857	broad.mit.edu	37	chr14	26917292	26917292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaccttccgattccttgtgCcaggtacgaattctcctttt	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:26917292C>T	ENST00000539517.2	-	5	1714	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D	NOVA1_ENST00000267422.7_Missense_Mutation_p.G344D|NOVA1_ENST00000465357.2_Missense_Mutation_p.G442D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	469	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATTCCTTGTGCCAGGTACGAA	0.443													False	0	False	14:26917292	0	T	26917292	C	T	26917292	3	4	88	1	0	0	0	0	1	0	0	0	10622	739	26	2	130	2	NOVA1	14	26917292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1628975	26917292	80432248	14047	21759											
NOVA1	4857	broad.mit.edu	37	chr14	26941524	26941524	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgacaggatgatactgtAcctgattagctctggaggtg	13	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:26941524A>C	ENST00000547619.1	-	4	579	c.521T>G	c.(520-522)gTa>gGa	p.V174G	NOVA1_ENST00000344429.5_Splice_Site|NOVA1_ENST00000267422.7_Splice_Site|NOVA1_ENST00000539517.2_Splice_Site|NOVA1_ENST00000465357.2_Intron			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	177	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATGATACTGTACCTGATTAGC	0.453													False	0	False	14:26941524	0	C	26941524	A	C	26941524	3	2	88	1	0	0	0	0	1	0	0	0	10622	405	14	4	1041	4	NOVA1	14	26941524	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24232	26941524	80408016	14048	21760											
NOVA1	4857	broad.mit.edu	37	chr14	27064755	27064755	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttagaaaatactggccGtcttctgaaaaatgcaaaga	7	8	2	3	rs141059341		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:27064755G>A	ENST00000267422.7	-	0	140				NOVA1_ENST00000547619.1_Silent_p.D47D|NOVA1_ENST00000574031.1_Silent_p.D47D|NOVA1_ENST00000344429.5_Silent_p.D47D|NOVA1_ENST00000539517.2_Silent_p.D47D|NOVA1_ENST00000465357.2_Silent_p.D47D			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1						locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AATACTGGCCGTCTTCTGAAA	0.393													False	0	False	14:27064755	0	A	27064755	G	A	27064755	1	1	88	1	0	0	0	0	0	0	0	0	10622	1136	40	1		1	NOVA1	14	27064755	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123231	27064755	80284785	14049	21761											
FOXG1	2290	broad.mit.edu	37	chr14	29236501	29236501	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggtgatgctggacatgggaGataggaaagaggtgaaaatg	18	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29236501G>A	ENST00000382535.3	+	2	385	c.16G>A	c.(16-18)Gat>Aat	p.D6N	FOXG1_ENST00000313071.4_Missense_Mutation_p.D6N			P55316	FOXG1_HUMAN	forkhead box G1	6					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGACATGGGAGATAGGAAAGA	0.682													False	0	False	14:29236501	0	A	29236501	G	A	29236501	3	1	88	1	0	0	0	0	1	0	0	0	6049	942	33	2	18	2	FOXG1	14	29236501	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2171746	29236501	78113039	14050	21762											
FOXG1	2290	broad.mit.edu	37	chr14	29236593	29236593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgacaaccaccacgcgagCcacggccaccacaacagcca	7	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29236593C>T	ENST00000382535.3	+	2	477	c.108C>T	c.(106-108)agC>agT	p.S36S	FOXG1_ENST00000313071.4_Silent_p.S36S			P55316	FOXG1_HUMAN	forkhead box G1	36	His-rich.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACCACGCGAGCCACGGccacc	0.667													False	0	False	14:29236593	0	T	29236593	C	T	29236593	2	4	88	1	0	0	0	0	0	0	0	1	6049	738	26	2		2	FOXG1	14	29236593	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	29236593	78112947	14051	21763											
FOXG1	2290	broad.mit.edu	37	chr14	29237629	29237629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgcaccacctcacggccGccgcgctagccgcctcggtg	11	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29237629G>A	ENST00000382535.3	+	2	1513	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	FOXG1_ENST00000313071.4_Missense_Mutation_p.A382T			P55316	FOXG1_HUMAN	forkhead box G1	382					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTCACGGCCGCCGCGCTAGC	0.701													False	0	False	14:29237629	0	A	29237629	G	A	29237629	3	1	88	1	0	0	0	0	1	0	0	0	6049	1087	38	1	1146	1	FOXG1	14	29237629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1036	29237629	78111911	14052	21764											
PRKD1	5587	broad.mit.edu	37	chr14	30107904	30107904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaaatcatccttacctttGcactgcaagccctgcctgaa	5	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:30107904G>A	ENST00000331968.5	-	5	1132	c.903C>T	c.(901-903)tgC>tgT	p.C301C	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Silent_p.C309C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	301					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCTTACCTTTGCACTGCAAGC	0.458													False	0	True	14:30107904	0	A	30107904	G	A	30107904	2	1	88	1	0	0	0	0	0	0	0	1	12594	1311	46	2		2	PRKD1	14	30107904	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	870275	30107904	77241636	14053	21765											
PRKD1	5587	broad.mit.edu	37	chr14	30107919	30107919	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttgcactgcaagccctgCctgaaaagccccttcagaag	8	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:30107919C>T	ENST00000331968.5	-	5	1117	c.888G>A	c.(886-888)agG>agA	p.R296R	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Silent_p.R304R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	296					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCAAGCCCTGCCTGAAAAGCC	0.458													False	0	True	14:30107919	0	T	30107919	C	T	30107919	2	4	88	1	0	0	0	0	0	0	0	1	12594	738	26	2		2	PRKD1	14	30107919	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	30107919	77241621	14054	21766											
G2E3	55632	broad.mit.edu	37	chr14	31077197	31077197	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaaaaccttgtttaactgCcttgtttatggaccagaaaa	6	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31077197C>T	ENST00000206595.6	+	12	1576	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C	G2E3_ENST00000553504.1_Silent_p.C504C|G2E3_ENST00000438909.2_Silent_p.C428C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	474	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTTAACTGCCTTGTTTATG	0.368													False	0	False	14:31077197	0	T	31077197	C	T	31077197	2	4	88	1	0	0	0	0	0	0	0	1	6182	747	26	2		2	G2E3	14	31077197	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	969278	31077197	76272343	14055	21767											
G2E3	55632	broad.mit.edu	37	chr14	31085649	31085649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaattcccatcaccaataCatataaagagtttcaagaaa	4	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31085649C>T	ENST00000206595.6	+	15	2184	c.2030C>T	c.(2029-2031)aCa>aTa	p.T677I	G2E3_ENST00000553504.1_Missense_Mutation_p.T707I|G2E3_ENST00000438909.2_Missense_Mutation_p.T631I	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	677	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATCACCAATACATATAAAGAG	0.353													False	0	False	14:31085649	0	T	31085649	C	T	31085649	3	4	88	1	0	0	0	0	1	0	0	0	6182	478	17	2	2084	2	G2E3	14	31085649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8452	31085649	76263891	14056	21768											
SCFD1	23256	broad.mit.edu	37	chr14	31119778	31119778	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttatttttcagaaactagAcaagaaacttcgagaaaatc	5	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31119778A>G	ENST00000458591.2	+	9	904	c.677A>G	c.(676-678)gAc>gGc	p.D226G	SCFD1_ENST00000541123.1_Missense_Mutation_p.D41G|SCFD1_ENST00000544052.2_Missense_Mutation_p.D159G|SCFD1_ENST00000421551.3_Missense_Mutation_p.D167G|SCFD1_ENST00000396629.2_Missense_Mutation_p.D134G	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	226					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAGAAACTAGACAAGAAACTT	0.294													False	0	False	14:31119778	0	G	31119778	A	G	31119778	3	3	88	1	0	0	0	0	1	0	0	0	13969	275	10	4	711	4	SCFD1	14	31119778	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34129	31119778	76229762	14057	21769											
SCFD1	23256	broad.mit.edu	37	chr14	31144232	31144232	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaaaagacttattgatctCcatacaaatgttgccactgc	5	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31144232C>T	ENST00000458591.2	+	14	1430	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	SCFD1_ENST00000541123.1_Silent_p.L216L|SCFD1_ENST00000544052.2_Silent_p.L334L|SCFD1_ENST00000421551.3_Silent_p.L342L|SCFD1_ENST00000396629.2_Silent_p.L309L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	401					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TTATTGATCTCCATACAAATG	0.299													False	0	False	14:31144232	0	T	31144232	C	T	31144232	2	4	88	1	0	0	0	0	0	0	0	1	13969	842	30	2		2	SCFD1	14	31144232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24454	31144232	76205308	14058	21770											
COCH	1690	broad.mit.edu	37	chr14	31348032	31348032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaggggagtaatcagcaaCtcagggggacctgtacgagt	14	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31348032C>T	ENST00000396618.3	+	5	311	c.255C>T	c.(253-255)aaC>aaT	p.N85N	COCH_ENST00000475087.1_Silent_p.N85N|COCH_ENST00000216361.4_Silent_p.N85N|COCH_ENST00000460581.2_5'UTR|RP11-829H16.3_ENST00000555108.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	85	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TAATCAGCAACTCAGGGGGAC	0.458													False	0	False	14:31348032	0	T	31348032	C	T	31348032	2	4	88	1	0	0	0	0	0	0	0	1	3679	564	20	2		2	COCH	14	31348032	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	203800	31348032	76001508	14059	21771											
COCH	1690	broad.mit.edu	37	chr14	31355162	31355162	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattgcctttctaattgatgGctccagcagtgttggagata	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31355162G>T	ENST00000460581.2	+	9	1331	c.785G>T	c.(784-786)gGc>gTc	p.G262V	COCH_ENST00000475087.1_Missense_Mutation_p.G374V|COCH_ENST00000216361.4_Missense_Mutation_p.G374V|COCH_ENST00000396618.3_Missense_Mutation_p.G374V|COCH_ENST00000382493.4_Missense_Mutation_p.G225V|RP11-829H16.3_ENST00000555108.1_RNA			O43405	COCH_HUMAN	cochlin	374	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CTAATTGATGGCTCCAGCAGT	0.423													False	0	False	14:31355162	0	T	31355162	G	T	31355162	3	4	88	1	0	0	0	0	1	0	0	0	3679	1203	42	3	1159	3	COCH	14	31355162	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7130	31355162	75994378	14060	21772											
COCH	1690	broad.mit.edu	37	chr14	31355352	31355352	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctagctgtcatcagaaacatCcgctatatgagtggtggaac	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31355352C>A	ENST00000460581.2	+	9	1521	c.975C>A	c.(973-975)atC>atA	p.I325I	COCH_ENST00000475087.1_Silent_p.I437I|COCH_ENST00000216361.4_Silent_p.I437I|COCH_ENST00000396618.3_Silent_p.I437I|COCH_ENST00000382493.4_Silent_p.I288I|RP11-829H16.3_ENST00000555108.1_RNA			O43405	COCH_HUMAN	cochlin	437	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCAGAAACATCCGCTATATGA	0.453													False	0	False	14:31355352	0	A	31355352	C	A	31355352	2	1	88	1	0	0	0	0	0	0	0	1	3679	845	30	3		3	COCH	14	31355352	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	190	31355352	75994188	14061	21773											
STRN3	29966	broad.mit.edu	37	chr14	31374730	31374730	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accatatgagctggatcacaGcctataaagtcaactgatgt	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31374730G>T	ENST00000355683.5	-	13	1886	c.1671C>A	c.(1669-1671)ggC>ggA	p.G557G	STRN3_ENST00000357479.5_Silent_p.G641G	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	641					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGATCACAGCCTATAAAGT	0.358													False	0	False	14:31374730	0	T	31374730	G	T	31374730	2	4	88	1	0	0	0	0	0	0	0	1	15412	958	34	3		3	STRN3	14	31374730	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19378	31374730	75974810	14062	21774											
STRN3	29966	broad.mit.edu	37	chr14	31416418	31416418	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtaatgaccttacccgCtgagaccgtacatctaatat	6	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31416418C>A	ENST00000355683.5	-	5	809	c.594G>T	c.(592-594)caG>caT	p.Q198H	STRN3_ENST00000357479.5_Missense_Mutation_p.Q198H	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	198					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACCTTACCCGCTGAGACCGTA	0.358													False	0	False	14:31416418	0	A	31416418	C	A	31416418	3	1	88	1	0	0	0	0	1	0	0	0	15412	796	28	3	1855	3	STRN3	14	31416418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41688	31416418	75933122	14063	21775											
HECTD1	25831	broad.mit.edu	37	chr14	31576881	31576881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctaatgtgggtcccaaGccagttccttcttctcctaa	6	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31576881G>A	ENST00000399332.1	-	37	6998	c.6510C>T	c.(6508-6510)ggC>ggT	p.G2170G	HECTD1_ENST00000553700.1_Silent_p.G2170G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2170	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGGGTCCCAAGCCAGTTCCTT	0.358													False	0	False	14:31576881	0	A	31576881	G	A	31576881	2	1	88	1	0	0	0	0	0	0	0	1	7086	958	34	2		2	HECTD1	14	31576881	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160463	31576881	75772659	14064	21776											
HECTD1	25831	broad.mit.edu	37	chr14	31597095	31597095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgaccaactgataaaactGttgttgctgtagctacattg	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31597095G>A	ENST00000399332.1	-	26	5365	c.4877C>T	c.(4876-4878)aCa>aTa	p.T1626I	HECTD1_ENST00000553700.1_Missense_Mutation_p.T1626I	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1626	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGATAAAACTGTTGTTGCTGT	0.423													False	0	False	14:31597095	0	A	31597095	G	A	31597095	3	1	88	1	0	0	0	0	1	0	0	0	7086	1377	48	2	3027	2	HECTD1	14	31597095	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20214	31597095	75752445	14065	21777											
HECTD1	25831	broad.mit.edu	37	chr14	31597990	31597990	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaggtacacttgcactagaGctcataggggccccagcagc	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31597990G>T	ENST00000399332.1	-	25	5075	c.4587C>A	c.(4585-4587)agC>agA	p.S1529R	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1529R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1529	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGCACTAGAGCTCATAGGGG	0.453													False	0	False	14:31597990	0	T	31597990	G	T	31597990	3	4	88	1	0	0	0	0	1	0	0	0	7086	962	34	3	3321	3	HECTD1	14	31597990	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	895	31597990	75751550	14066	21778											
HECTD1	25831	broad.mit.edu	37	chr14	31618318	31618318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttgaagtagatggctttActtggcctcgagctctttgt	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31618318A>G	ENST00000399332.1	-	14	2692	c.2204T>C	c.(2203-2205)gTa>gCa	p.V735A	HECTD1_ENST00000553700.1_Missense_Mutation_p.V735A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	735					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGATGGCTTTACTTGGCCTCG	0.363													False	0	True	14:31618318	0	G	31618318	A	G	31618318	3	3	88	1	0	0	0	0	1	0	0	0	7086	391	14	4	5748	4	HECTD1	14	31618318	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20328	31618318	75731222	14067	21779											
HECTD1	25831	broad.mit.edu	37	chr14	31641142	31641142	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgacctctattaacatctgcAcctctctcacaaagaaattc	3	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31641142A>G	ENST00000399332.1	-	8	1745	c.1257T>C	c.(1255-1257)ggT>ggC	p.G419G	HECTD1_ENST00000553700.1_Silent_p.G419G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	419					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TAACATCTGCACCTCTCTCAC	0.303													False	0	False	14:31641142	0	G	31641142	A	G	31641142	2	3	88	1	0	0	0	0	0	0	0	1	7086	146	6	4		4	HECTD1	14	31641142	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22824	31641142	75708398	14068	21780											
HECTD1	25831	broad.mit.edu	37	chr14	31647447	31647447	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagggctggtaagaaagTgcgaggaggacatctgtagt	16	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31647447T>C	ENST00000399332.1	-	3	642	c.154A>G	c.(154-156)Act>Gct	p.T52A	HECTD1_ENST00000553700.1_Missense_Mutation_p.T52A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	52					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GGTAAGAAAGTGCGAGGAGGA	0.338													False	0	False	14:31647447	0	C	31647447	T	C	31647447	3	2	88	1	0	0	0	0	1	0	0	0	7086	1696	59	4	7842	4	HECTD1	14	31647447	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6305	31647447	75702093	14069	21781											
HEATR5A	25938	broad.mit.edu	37	chr14	31771685	31771685	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtctctctgaggaccccGattgtgaggtacaatatagt	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31771685G>A	ENST00000543095.2	-	33	5464	c.5280C>T	c.(5278-5280)atC>atT	p.I1760I	HEATR5A_ENST00000389961.3_Silent_p.I1754I|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_Silent_p.I1467I|HEATR5A_ENST00000439348.1_Intron	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1754							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TGAGGACCCCGATTGTGAGGT	0.403													False	0	True	14:31771685	0	A	31771685	G	A	31771685	2	1	88	1	0	0	0	0	0	0	0	1	7078	1048	37	1		1	HEATR5A	14	31771685	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124238	31771685	75577855	14070	21782											
HEATR5A	25938	broad.mit.edu	37	chr14	31819115	31819115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttggggctttctagggctCccataactaatgttaaggca	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31819115C>T	ENST00000543095.2	-	18	2772	c.2588G>A	c.(2587-2589)gGa>gAa	p.G863E	HEATR5A_ENST00000389961.3_Missense_Mutation_p.G857E|HEATR5A_ENST00000439727.1_Missense_Mutation_p.G570E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.G857E|HEATR5A_ENST00000404677.3_Missense_Mutation_p.G863E	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	857							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTCTAGGGCTCCCATAACTAA	0.448													False	0	True	14:31819115	0	T	31819115	C	T	31819115	3	4	88	1	0	0	0	0	1	0	0	0	7078	855	30	2	3628	2	HEATR5A	14	31819115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47430	31819115	75530425	14071	21783											
HEATR5A	25938	broad.mit.edu	37	chr14	31844154	31844154	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcagaactcgagcaaggtGatggctaacaactgcaggac	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31844154G>A	ENST00000543095.2	-	12	1913	c.1729C>T	c.(1729-1731)Cac>Tac	p.H577Y	HEATR5A_ENST00000389961.3_Missense_Mutation_p.H571Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.H284Y|HEATR5A_ENST00000439348.1_Missense_Mutation_p.H571Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.H577Y	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	571							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGAGCAAGGTGATGGCTAACA	0.413													False	0	False	14:31844154	0	A	31844154	G	A	31844154	3	1	88	1	0	0	0	0	1	0	0	0	7078	1290	45	2	4511	2	HEATR5A	14	31844154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25039	31844154	75505386	14072	21784											
ARHGAP5	394	broad.mit.edu	37	chr14	32560065	32560065	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttagcaccattgactttggaGgacgagtagtaaacaatgat	10	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32560065G>T	ENST00000345122.3	+	2	505	c.190G>T	c.(190-192)Gga>Tga	p.G64*	ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.G64*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.G64*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	64					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGACTTTGGAGGACGAGTAGT	0.368													False	0	False	14:32560065	0	T	32560065	G	T	32560065	4	4	88	1	0	0	0	0	0	1	0	0	888	1001	35	3	192	3	ARHGAP5	14	32560065	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	715911	32560065	74789475	14073	21785											
ARHGAP5	394	broad.mit.edu	37	chr14	32560429	32560429	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atttgtgaataacctttttgTccagttatcaaaatcaaaaa	4	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32560429T>C	ENST00000345122.3	+	2	869	c.554T>C	c.(553-555)gTc>gCc	p.V185A	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V185A|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V185A|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V185A	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	185					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AACCTTTTTGTCCAGTTATCA	0.328													False	0	False	14:32560429	0	C	32560429	T	C	32560429	3	2	88	1	0	0	0	0	1	0	0	0	888	1667	58	4	556	4	ARHGAP5	14	32560429	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	364	32560429	74789111	14074	21786											
ARHGAP5	394	broad.mit.edu	37	chr14	32561798	32561798	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccggttgatgccaaatcGccttactttttgagtcagtt	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32561798G>A	ENST00000345122.3	+	2	2238	c.1923G>A	c.(1921-1923)tcG>tcA	p.S641S	ARHGAP5_ENST00000556611.1_Silent_p.S641S|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Silent_p.S641S|ARHGAP5_ENST00000432921.1_Silent_p.S641S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	641					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATGCCAAATCGCCTTACTTTT	0.388													False	0	False	14:32561798	0	A	32561798	G	A	32561798	2	1	88	1	0	0	0	0	0	0	0	1	888	1074	38	1		1	ARHGAP5	14	32561798	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1369	32561798	74787742	14075	21787											
ARHGAP5	394	broad.mit.edu	37	chr14	32562094	32562094	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtacatatcctcgtaAatttaatgaaacccaaataa	5	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32562094A>C	ENST00000345122.3	+	2	2534	c.2219A>C	c.(2218-2220)aAa>aCa	p.K740T	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.K740T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.K740T|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.K740T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	740					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATCCTCGTAAATTTAATGAA	0.403													False	0	True	14:32562094	0	C	32562094	A	C	32562094	3	2	88	1	0	0	0	0	1	0	0	0	888	14	1	4	2221	4	ARHGAP5	14	32562094	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	296	32562094	74787446	14076	21788											
AKAP6	9472	broad.mit.edu	37	chr14	32902714	32902714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccatgttaaccatgagCgtgacactttcccccctgag	7	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32902714C>T	ENST00000280979.4	+	2	185	c.15C>T	c.(13-15)agC>agT	p.S5S	AKAP6_ENST00000557354.1_Silent_p.S5S|AKAP6_ENST00000557272.1_Silent_p.S5S|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	5					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAACCATGAGCGTGACACTTT	0.493													False	0	False	14:32902714	0	T	32902714	C	T	32902714	2	4	88	1	0	0	0	0	0	0	0	1	455	767	27	1		1	AKAP6	14	32902714	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	340620	32902714	74446826	14077	21789											
AKAP6	9472	broad.mit.edu	37	chr14	33004822	33004822	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccctccttgaaacagagttCtccctaaagctgctgtctta	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:33004822C>A	ENST00000280979.4	+	3	557	c.387C>A	c.(385-387)ttC>ttA	p.F129L	AKAP6_ENST00000557354.1_Missense_Mutation_p.F129L|AKAP6_ENST00000557272.1_Missense_Mutation_p.F129L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	129					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAACAGAGTTCTCCCTAAAGC	0.473													False	0	False	14:33004822	0	A	33004822	C	A	33004822	3	1	88	1	0	0	0	0	1	0	0	0	455	912	32	3	393	3	AKAP6	14	33004822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102108	33004822	74344718	14078	21790											
AKAP6	9472	broad.mit.edu	37	chr14	33016050	33016050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtccagtatgcctctcGctggcatgaaaaagtatgct	11	9	1	1	rs139751571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:33016050G>A	ENST00000280979.4	+	4	2361	c.2191G>A	c.(2191-2193)Gct>Act	p.A731T	AKAP6_ENST00000557354.1_Missense_Mutation_p.A731T|AKAP6_ENST00000557272.1_Missense_Mutation_p.A731T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	731					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.A731T(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TATGCCTCTCGCTGGCATGAA	0.448													False	0	False	14:33016050	0	A	33016050	G	A	33016050	3	1	88	1	0	0	0	0	1	0	0	0	455	1087	38	1	2201	1	AKAP6	14	33016050	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11228	33016050	74333490	14079	21791											
NPAS3	64067	broad.mit.edu	37	chr14	34029338	34029338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcagtccctggatggCtttgtatttgcactaaatca	8	10	1	0	rs144736542		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34029338C>T	ENST00000346562.2	+	4	458	c.384C>T	c.(382-384)ggC>ggT	p.G128G	NPAS3_ENST00000551008.1_Silent_p.G58G|NPAS3_ENST00000547068.1_Silent_p.G56G|NPAS3_ENST00000357798.5_Silent_p.G147G|NPAS3_ENST00000548645.1_Silent_p.G130G|NPAS3_ENST00000341321.4_Silent_p.G160G|NPAS3_ENST00000551492.1_Silent_p.G165G|NPAS3_ENST00000356141.4_Silent_p.G160G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCCTGGATGGCTTTGTATTTG	0.318													False	0	True	14:34029338	0	T	34029338	C	T	34029338	2	4	88	1	0	0	0	0	0	0	0	1	10632	784	28	2		2	NPAS3	14	34029338	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1013288	34029338	73320202	14080	21792											
NPAS3	64067	broad.mit.edu	37	chr14	34269138	34269138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactttgagaaccccaaggCgggcgaggacggcttcggtg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34269138C>T	ENST00000346562.2	+	11	1603	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	NPAS3_ENST00000357798.5_Missense_Mutation_p.A529V|NPAS3_ENST00000548645.1_Missense_Mutation_p.A512V|NPAS3_ENST00000551492.1_Missense_Mutation_p.A547V|NPAS3_ENST00000356141.4_Missense_Mutation_p.A542V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AACCCCAAGGCGGGCGAGGAC	0.632													False	0	True	14:34269138	0	T	34269138	C	T	34269138	3	4	88	1	0	0	0	0	1	0	0	0	10632	768	27	1	1726	1	NPAS3	14	34269138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239800	34269138	73080402	14081	21793											
NPAS3	64067	broad.mit.edu	37	chr14	34269619	34269619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggcggtgggggtggCggtggcggggggctgcacgt	27	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34269619C>T	ENST00000346562.2	+	11	2084	c.2010C>T	c.(2008-2010)ggC>ggT	p.G670G	NPAS3_ENST00000357798.5_Silent_p.G689G|NPAS3_ENST00000548645.1_Silent_p.G672G|NPAS3_ENST00000551492.1_Silent_p.G707G|NPAS3_ENST00000356141.4_Silent_p.G702G	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTGGGGGTGGCGGTGGCGGGG	0.741													False	0	True	14:34269619	0	T	34269619	C	T	34269619	2	4	88	1	0	0	0	0	0	0	0	1	10632	755	27	1		1	NPAS3	14	34269619	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	481	34269619	73079921	14082	21794											
EAPP	55837	broad.mit.edu	37	chr14	34985588	34985588	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagactgccacttcagtggaAcattcagtgcacatgactgg	10	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34985588A>G	ENST00000250454.3	-	6	867	c.786T>C	c.(784-786)tgT>tgC	p.C262C		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	262					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CTTCAGTGGAACATTCAGTGC	0.453													False	0	False	14:34985588	0	G	34985588	A	G	34985588	2	3	88	1	0	0	0	0	0	0	0	1	4907	41	2	4		4	EAPP	14	34985588	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	715969	34985588	72363952	14083	21795											
SNX6	58533	broad.mit.edu	37	chr14	35036896	35036896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttattacaacactacctttGcatgcttcagttctaactct	3	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35036896G>A	ENST00000396526.3	-	12	1311	c.815C>T	c.(814-816)gCa>gTa	p.A272V	SNX6_ENST00000355110.5_Missense_Mutation_p.A276V|SNX6_ENST00000362031.4_Missense_Mutation_p.A400V|SNX6_ENST00000396534.3_Missense_Mutation_p.A272V			Q9UNH7	SNX6_HUMAN	sorting nexin 6	388					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CACTACCTTTGCATGCTTCAG	0.289													False	0	True	14:35036896	0	A	35036896	G	A	35036896	3	1	88	1	0	0	0	0	1	0	0	0	14986	1319	46	2	65	2	SNX6	14	35036896	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51308	35036896	72312644	14084	21796											
SNX6	58533	broad.mit.edu	37	chr14	35078930	35078930	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcagcatcactttgaagatCtacatttattgctttaagct	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35078930C>A	ENST00000362031.4	-	3	139	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	SNX6_ENST00000355110.5_5'UTR|SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000396534.3_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	25	PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CTTTGAAGATCTACATTTATT	0.313													False	0	False	14:35078930	0	A	35078930	C	A	35078930	3	1	88	1	0	0	0	0	1	0	0	0	14986	913	32	3	1195	3	SNX6	14	35078930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42034	35078930	72270610	14085	21797											
BAZ1A	11177	broad.mit.edu	37	chr14	35245537	35245537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcgtctatacatgcggtcGcgacccaagggaaagatatt	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35245537G>A	ENST00000360310.1	-	18	2988	c.2421C>T	c.(2419-2421)cgC>cgT	p.R807R	BAZ1A_ENST00000358716.4_Silent_p.R775R|BAZ1A_ENST00000382422.2_Silent_p.R807R	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	807	Interaction with SMARCA5.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ACATGCGGTCGCGACCCAAGG	0.418													False	0	False	14:35245537	0	A	35245537	G	A	35245537	2	1	88	1	0	0	0	0	0	0	0	1	1333	1074	38	1		1	BAZ1A	14	35245537	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166607	35245537	72104003	14086	21798											
SRP54	6729	broad.mit.edu	37	chr14	35483956	35483956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtatcttataggtatggGcgacattgaaggactgatag	12	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35483956G>A	ENST00000556994.1	+	12	1290	c.893G>A	c.(892-894)gGc>gAc	p.G298D	SRP54_ENST00000546080.1_Missense_Mutation_p.G249D|SRP54_ENST00000555557.1_Missense_Mutation_p.G234D|SRP54_ENST00000216774.6_Missense_Mutation_p.G298D			P61011	SRP54_HUMAN	signal recognition particle 54kDa	298	M-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATAGGTATGGGCGACATTGAA	0.328													False	0	True	14:35483956	0	A	35483956	G	A	35483956	3	1	88	1	0	0	0	0	1	0	0	0	15237	1203	42	2	931	2	SRP54	14	35483956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	238419	35483956	71865584	14087	21799											
KIAA0391	9692	broad.mit.edu	37	chr14	35593373	35593373	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tactagatattctttcatatCtaagaaataatcagctgtat	4	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35593373C>T	ENST00000557565.1	+	2	1303	c.922C>T	c.(922-924)Cta>Tta	p.L308L	KIAA0391_ENST00000250377.7_Silent_p.L213L|KIAA0391_ENST00000604948.1_Silent_p.L213L|KIAA0391_ENST00000534898.4_Silent_p.L308L|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.L308L|KIAA0391_ENST00000321130.10_Silent_p.L308L	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	308					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCTTTCATATCTAAGAAATAA	0.279													False	0	False	14:35593373	0	T	35593373	C	T	35593373	2	4	88	1	0	0	0	0	0	0	0	1	8222	912	32	2		2	KIAA0391	14	35593373	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109417	35593373	71756167	14088	21800											
KIAA0391	9692	broad.mit.edu	37	chr14	35735990	35735990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgactgctggtcctaggcCggaagcacatgctaagacgg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35735990C>T	ENST00000557565.1	+	6	1714	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	KIAA0391_ENST00000250377.7_Missense_Mutation_p.R350W|KIAA0391_ENST00000604948.1_Missense_Mutation_p.R350W|KIAA0391_ENST00000534898.4_Missense_Mutation_p.R445W|KIAA0391_ENST00000605870.1_Missense_Mutation_p.R73W|KIAA0391_ENST00000603544.1_Missense_Mutation_p.R429W|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R429W	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	445					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GGTCCTAGGCCGGAAGCACAT	0.478													False	0	False	14:35735990	0	T	35735990	C	T	35735990	3	4	88	1	0	0	0	0	1	0	0	0	8222	643	23	1	1351	1	KIAA0391	14	35735990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142617	35735990	71613550	14089	21801											
PSMA6	5687	broad.mit.edu	37	chr14	35761742	35761742	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accattttttcacccgagggTcggctctaccaagtaggtga	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35761742T>C	ENST00000261479.4	+	1	180	c.60T>C	c.(58-60)ggT>ggC	p.G20G	PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000556506.1_Silent_p.G20G|PSMA6_ENST00000540871.1_Intron|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000553809.1_Silent_p.G20G	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	20					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CACCCGAGGGTCGGCTCTACC	0.577													False	0	True	14:35761742	0	C	35761742	T	C	35761742	2	2	88	1	0	0	0	0	0	0	0	1	12747	1654	58	4		4	PSMA6	14	35761742	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25752	35761742	71587798	14090	21802											
PSMA6	5687	broad.mit.edu	37	chr14	35783581	35783581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagactgcaattacatgCctgtctactgttctatcaat	5	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35783581C>T	ENST00000261479.4	+	6	723	c.603C>T	c.(601-603)tgC>tgT	p.C201C	PSMA6_ENST00000555764.1_Silent_p.C122C|PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000540871.1_Silent_p.C182C|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Silent_p.C207C	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CAATTACATGCCTGTCTACTG	0.323													False	0	False	14:35783581	0	T	35783581	C	T	35783581	2	4	88	1	0	0	0	0	0	0	0	1	12747	747	26	2		2	PSMA6	14	35783581	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21839	35783581	71565959	14091	21803											
NFKBIA	4792	broad.mit.edu	37	chr14	35872963	35872963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcggatcacttccatgGtcagtgccttttcttcatgg	10	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35872963G>A	ENST00000216797.5	-	2	370	c.269C>T	c.(268-270)aCc>aTc	p.T90I	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.T90I	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	90					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		CACTTCCATGGTCAGTGCCTT	0.607													False	0	False	14:35872963	0	A	35872963	G	A	35872963	3	1	88	1	0	0	0	0	1	0	0	0	10445	1261	44	2	704	2	NFKBIA	14	35872963	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89382	35872963	71476577	14092	21804											
INSM2	0	broad.mit.edu	37	chr14	36004387	36004387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaacctggcctcccatcGccgctggcataagccgcgtc	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36004387G>A	ENST00000307169.3	+	1	1140	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCCTCCCATCGCCGCTGGCAT	0.682													False	0	False	14:36004387	0	A	36004387	G	A	36004387	3	1	88	1	0	0	0	0	1	0	0	0	7822	1087	38	1	931	1	INSM2	14	36004387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131424	36004387	71345153	14093	21805											
INSM2	0	broad.mit.edu	37	chr14	36004916	36004916	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctacagcagatatcagggaGaagcaccggctgtggcatgc	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36004916G>A	ENST00000307169.3	+	1	1669	c.1458G>A	c.(1456-1458)gaG>gaA	p.E486E		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		ATATCAGGGAGAAGCACCGGC	0.682													False	0	False	14:36004916	0	A	36004916	G	A	36004916	2	1	88	1	0	0	0	0	0	0	0	1	7822	933	33	2		2	INSM2	14	36004916	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	529	36004916	71344624	14094	21806											
RALGAPA1	253959	broad.mit.edu	37	chr14	36041836	36041836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atattacaataaggacatcaCcaaattctgtgggaataatt	6	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36041836C>T	ENST00000258840.6	-	38	6311	c.5921G>A	c.(5920-5922)gGt>gAt	p.G1974D	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G1940D|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.G1927D|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G1927D	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1927	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAGGACATCACCAAATTCTGT	0.348													False	0	False	14:36041836	0	T	36041836	C	T	36041836	3	4	88	1	0	0	0	0	1	0	0	0	13092	507	18	2	499	2	RALGAPA1	14	36041836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36920	36041836	71307704	14095	21807											
RALGAPA1	253959	broad.mit.edu	37	chr14	36143867	36143867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcatgccatccagtcagaGtacctcctgccatcacacta	6	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36143867G>T	ENST00000258840.6	-	23	3686	c.3296C>A	c.(3295-3297)aCt>aAt	p.T1099N	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.T1052N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1065N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1052N	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1052					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCAGTCAGAGTACCTCCTGC	0.373													False	0	False	14:36143867	0	T	36143867	G	T	36143867	3	4	88	1	0	0	0	0	1	0	0	0	13092	1029	36	3	3184	3	RALGAPA1	14	36143867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102031	36143867	71205673	14096	21808											
RALGAPA1	253959	broad.mit.edu	37	chr14	36154173	36154173	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catattggaaagcgctgaaaGaatccgaatgactatctgag	10	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36154173G>T	ENST00000258840.6	-	20	3269	c.2879C>A	c.(2878-2880)tCt>tAt	p.S960Y	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S913Y|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S926Y|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S913Y	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	913					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCGCTGAAAGAATCCGAATG	0.433													False	0	True	14:36154173	0	T	36154173	G	T	36154173	3	4	88	1	0	0	0	0	1	0	0	0	13092	942	33	3	3613	3	RALGAPA1	14	36154173	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10306	36154173	71195367	14097	21809											
BRMS1L	84312	broad.mit.edu	37	chr14	36295809	36295809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgaaaatgaggggagcagCtccgaggacgaggacactga	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36295809C>T	ENST00000216807.7	+	1	286	c.87C>T	c.(85-87)agC>agT	p.S29S	RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	29					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AGGGGAGCAGCTCCGAGGACG	0.627													False	0	False	14:36295809	0	T	36295809	C	T	36295809	2	4	88	1	0	0	0	0	0	0	0	1	1524	796	28	2		2	BRMS1L	14	36295809	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141636	36295809	71053731	14098	21810											
NKX2-8	26257	broad.mit.edu	37	chr14	37050665	37050665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccaggctgctctcgtcCgaggctagggacagcaaagg	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37050665C>T	ENST00000258829.5	-	2	379	c.162G>A	c.(160-162)tcG>tcA	p.S54S		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	54					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		TGCTCTCGTCCGAGGCTAGGG	0.706													False	0	False	14:37050665	0	T	37050665	C	T	37050665	2	4	88	1	0	0	0	0	0	0	0	1	10522	639	23	1		1	NKX2-8	14	37050665	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	754856	37050665	70298875	14099	21811											
PAX9	5083	broad.mit.edu	37	chr14	37132272	37132272	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcagcaagatcctggcgCgatacaacgagacgggctcg	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37132272C>T	ENST00000361487.6	+	2	400	c.175C>T	c.(175-177)Cga>Tga	p.R59*	PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Nonsense_Mutation_p.R59*			P55771	PAX9_HUMAN	paired box 9	59	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GATCCTGGCGCGATACAACGA	0.642													False	0	False	14:37132272	0	T	37132272	C	T	37132272	4	4	88	1	0	0	0	0	0	1	0	0	11554	760	27	1	181	1	PAX9	14	37132272	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81607	37132272	70217268	14100	21812											
PAX9	5083	broad.mit.edu	37	chr14	37132689	37132689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccctcctcgcactccGtcaccgacatcctgggcatc	8	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37132689G>A	ENST00000361487.6	+	2	817	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	PAX9_ENST00000554201.1_Missense_Mutation_p.V11I|PAX9_ENST00000402703.2_Missense_Mutation_p.V198I			P55771	PAX9_HUMAN	paired box 9	198					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CTCGCACTCCGTCACCGACAT	0.716													False	0	False	14:37132689	0	A	37132689	G	A	37132689	3	1	88	1	0	0	0	0	1	0	0	0	11554	1145	40	1	598	1	PAX9	14	37132689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	417	37132689	70216851	14101	21813											
SLC25A21	89874	broad.mit.edu	37	chr14	37194861	37194861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttctgttagtccagatcCcaatccagcaatggcgaatg	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37194861C>T	ENST00000331299.5	-	6	867	c.352G>A	c.(352-354)Gga>Aga	p.G118R	SLC25A21_ENST00000555449.1_Missense_Mutation_p.G118R	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	118					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		AGTCCAGATCCCAATCCAGCA	0.358													False	0	True	14:37194861	0	T	37194861	C	T	37194861	3	4	88	1	0	0	0	0	1	0	0	0	14564	632	22	2	572	2	SLC25A21	14	37194861	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62172	37194861	70154679	14102	21814											
MIPOL1	145282	broad.mit.edu	37	chr14	37737973	37737973	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttcttctaaaagaattggAtattctcagaacaagcaata	5	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37737973A>G	ENST00000327441.7	+	6	828	c.362A>G	c.(361-363)gAt>gGt	p.D121G	MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000545536.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000537471.1_Missense_Mutation_p.D121G|MIPOL1_ENST00000556451.1_Missense_Mutation_p.D90G|MIPOL1_ENST00000396294.2_Missense_Mutation_p.D121G|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000539062.2_Missense_Mutation_p.D90G	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	121										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAAGAATTGGATATTCTCAGA	0.313													False	0	False	14:37737973	0	G	37737973	A	G	37737973	3	3	88	1	0	0	0	0	1	0	0	0	9660	333	12	4	372	4	MIPOL1	14	37737973	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	543112	37737973	69611567	14103	21815											
MIPOL1	145282	broad.mit.edu	37	chr14	38016120	38016120	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaacttaggttggaaaggCtggtggatgtactgaggaag	15	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38016120C>T	ENST00000327441.7	+	14	1739	c.1273C>T	c.(1273-1275)Ctg>Ttg	p.L425L	MIPOL1_ENST00000537471.1_Silent_p.L425L|MIPOL1_ENST00000396294.2_Silent_p.L425L|MIPOL1_ENST00000536774.1_Silent_p.L244L|MIPOL1_ENST00000539062.2_Silent_p.L394L	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	425										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GTTGGAAAGGCTGGTGGATGT	0.473													False	0	False	14:38016120	0	T	38016120	C	T	38016120	2	4	88	1	0	0	0	0	0	0	0	1	9660	796	28	2		2	MIPOL1	14	38016120	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278147	38016120	69333420	14104	21816											
FOXA1	3169	broad.mit.edu	37	chr14	38061834	38061834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgccgctcgtagtcatgGtgttcatggtcatgtaggtg	14	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38061834G>A	ENST00000250448.2	-	2	216	c.155C>T	c.(154-156)aCc>aTc	p.T52I	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.T19I	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	52					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGTAGTCATGGTGTTCATGGT	0.612													False	0	False	14:38061834	0	A	38061834	G	A	38061834	3	1	88	1	0	0	0	0	1	0	0	0	6029	1261	44	2	1267	2	FOXA1	14	38061834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45714	38061834	69287706	14105	21817											
SSTR1	0	broad.mit.edu	37	chr14	38678962	38678962	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccacgttgttgcgccactGgcccttcggtgcgctgctct	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38678962G>A	ENST00000267377.2	+	3	985	c.368G>A	c.(367-369)tGg>tAg	p.W123*		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	123					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TTGCGCCACTGGCCCTTCGGT	0.587													False	0	False	14:38678962	0	A	38678962	G	A	38678962	4	1	88	1	0	0	0	0	0	1	0	0	15279	1357	47	2	370	2	SSTR1	14	38678962	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	617128	38678962	68670578	14106	21818											
SSTR1	0	broad.mit.edu	37	chr14	38679130	38679130	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccaaggtagtaaaccTgggcgtgtgggtgctatcgc	16	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38679130T>C	ENST00000267377.2	+	3	1153	c.536T>C	c.(535-537)cTg>cCg	p.L179P		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	179					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GTAGTAAACCTGGGCGTGTGG	0.642													False	0	True	14:38679130	0	C	38679130	T	C	38679130	3	2	88	1	0	0	0	0	1	0	0	0	15279	1580	55	4	538	4	SSTR1	14	38679130	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	168	38679130	68670410	14107	21819											
CLEC14A	161198	broad.mit.edu	37	chr14	38724293	38724293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttctctgcggcacggggCtggttgcagtggccggcggg	19	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724293C>T	ENST00000342213.2	-	1	1281	c.935G>A	c.(934-936)aGc>aAc	p.S312N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	312						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CGGCACGGGGCTGGTTGCAGT	0.627													False	0	True	14:38724293	0	T	38724293	C	T	38724293	3	4	88	1	0	0	0	0	1	0	0	0	3522	797	28	2	541	2	CLEC14A	14	38724293	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45163	38724293	68625247	14108	21820											
CLEC14A	161198	broad.mit.edu	37	chr14	38724491	38724491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggaggtacctcccggggCagggacacaacacatcgccc	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724491C>T	ENST00000342213.2	-	1	1083	c.737G>A	c.(736-738)tGc>tAc	p.C246Y		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	246	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCTCCCGGGGCAGGGACACAA	0.617													False	0	True	14:38724491	0	T	38724491	C	T	38724491	3	4	88	1	0	0	0	0	1	0	0	0	3522	710	25	2	739	2	CLEC14A	14	38724491	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	38724491	68625049	14109	21821											
CLEC14A	161198	broad.mit.edu	37	chr14	38724527	38724527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgagagtttgtcccagCgagcgccgatttcgtccgcg	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724527C>T	ENST00000342213.2	-	1	1047	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	234						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TTTGTCCCAGCGAGCGCCGAT	0.627													False	0	True	14:38724527	0	T	38724527	C	T	38724527	3	4	88	1	0	0	0	0	1	0	0	0	3522	768	27	1	775	1	CLEC14A	14	38724527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36	38724527	68625013	14110	21822											
CLEC14A	161198	broad.mit.edu	37	chr14	38724650	38724650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagctggaagggcgcgCgatagctcaagttagaggcg	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724650C>T	ENST00000342213.2	-	1	924	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	193						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAAGGGCGCGCGATAGCTCAA	0.647													False	0	True	14:38724650	0	T	38724650	C	T	38724650	3	4	88	1	0	0	0	0	1	0	0	0	3522	768	27	1	898	1	CLEC14A	14	38724650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123	38724650	68624890	14111	21823											
CLEC14A	161198	broad.mit.edu	37	chr14	38724747	38724747	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggcgcgcaggtggcatcGcatctccttccagcctgcgg	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724747G>A	ENST00000342213.2	-	1	827	c.481C>T	c.(481-483)Cga>Tga	p.R161*		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	161	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGGTGGCATCGCATCTCCTTC	0.682													False	0	True	14:38724747	0	A	38724747	G	A	38724747	4	1	88	1	0	0	0	0	0	1	0	0	3522	1095	38	1	995	1	CLEC14A	14	38724747	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97	38724747	68624793	14112	21824											
SEC23A	10484	broad.mit.edu	37	chr14	39510075	39510075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcctggtatcctgacttcCgccactgtgctatggtctaa	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39510075C>T	ENST00000537403.1	-	14	2599	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	SEC23A_ENST00000536508.1_Missense_Mutation_p.R566Q|SEC23A_ENST00000545328.2_Missense_Mutation_p.R639Q|SEC23A_ENST00000307712.6_Missense_Mutation_p.R668Q			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	668					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCCTGACTTCCGCCACTGTGC	0.373													False	0	False	14:39510075	0	T	39510075	C	T	39510075	3	4	88	1	0	0	0	0	1	0	0	0	14072	652	23	1	306	1	SEC23A	14	39510075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	785328	39510075	67839465	14113	21825											
PNN	5411	broad.mit.edu	37	chr14	39650344	39650344	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgtggctcaacctcaGcctcagtctcagccccagct	9	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39650344G>A	ENST00000216832.4	+	9	1498	c.1431G>A	c.(1429-1431)caG>caA	p.Q477Q	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	477	Gln-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		CTcaacctcagcctcagtctc	0.502													False	0	True	14:39650344	0	A	39650344	G	A	39650344	2	1	88	1	0	0	0	0	0	0	0	1	12229	962	34	2		2	PNN	14	39650344	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140269	39650344	67699196	14114	21826											
PNN	5411	broad.mit.edu	37	chr14	39650731	39650731	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtagtagcagtcgcagtagTtccagtagcagctccagtac	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39650731T>C	ENST00000216832.4	+	9	1885	c.1818T>C	c.(1816-1818)agT>agC	p.S606S	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	606	Necessary for interaction with PPIG.|Ser-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		gtcgcagtagttccagtagca	0.512													False	0	False	14:39650731	0	C	39650731	T	C	39650731	2	2	88	1	0	0	0	0	0	0	0	1	12229	1722	60	4		4	PNN	14	39650731	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	387	39650731	67698809	14115	21827											
LRFN5	145581	broad.mit.edu	37	chr14	42356113	42356113	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttattacacctcatgctttCgctgacctacgaaatttgag	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356113C>T	ENST00000554171.1	+	5	2717	c.285C>T	c.(283-285)ttC>ttT	p.F95F	LRFN5_ENST00000554120.1_Silent_p.F95F|LRFN5_ENST00000298119.4_Silent_p.F95F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	95						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCATGCTTTCGCTGACCTAC	0.348										HNSCC(30;0.082)			False	0	True	14:42356113	0	T	42356113	C	T	42356113	2	4	88	1	0	0	0	0	0	0	0	1	9003	883	31	1		1	LRFN5	14	42356113	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2705382	42356113	64993427	14116	21828											
LRFN5	145581	broad.mit.edu	37	chr14	42356347	42356347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgagaagatggttagcttGcatacccttagtttggatca	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356347G>A	ENST00000554171.1	+	5	2951	c.519G>A	c.(517-519)ttG>ttA	p.L173L	LRFN5_ENST00000554120.1_Silent_p.L173L|LRFN5_ENST00000298119.4_Silent_p.L173L			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	173						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGTTAGCTTGCATACCCTTA	0.413										HNSCC(30;0.082)			False	0	False	14:42356347	0	A	42356347	G	A	42356347	2	1	88	1	0	0	0	0	0	0	0	1	9003	1310	46	2		2	LRFN5	14	42356347	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234	42356347	64993193	14117	21829											
LRFN5	145581	broad.mit.edu	37	chr14	42356731	42356731	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagatgagagtcctggagggAcaaagggcaacactgaggtg	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356731A>G	ENST00000554171.1	+	5	3335	c.903A>G	c.(901-903)ggA>ggG	p.G301G	LRFN5_ENST00000554120.1_Silent_p.G301G|LRFN5_ENST00000298119.4_Silent_p.G301G			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	301	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCCTGGAGGGACAAAGGGCAA	0.468										HNSCC(30;0.082)			False	0	True	14:42356731	0	G	42356731	A	G	42356731	2	3	88	1	0	0	0	0	0	0	0	1	9003	262	10	4		4	LRFN5	14	42356731	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	384	42356731	64992809	14118	21830											
LRFN5	145581	broad.mit.edu	37	chr14	42360508	42360508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ataatctggctgctggaactAtgtatgacttgtgtgtcttg	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42360508A>G	ENST00000298119.4	+	4	2630	c.1441A>G	c.(1441-1443)Atg>Gtg	p.M481V	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	481	Fibronectin type-III.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCTGGAACTATGTATGACTT	0.403										HNSCC(30;0.082)			False	0	True	14:42360508	0	G	42360508	A	G	42360508	3	3	88	1	0	0	0	0	1	0	0	0	9003	449	16	4	1447	4	LRFN5	14	42360508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3777	42360508	64989032	14119	21831											
LRFN5	145581	broad.mit.edu	37	chr14	42360546	42360546	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccatatatgatgatggCatcacttccctcactgccac	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42360546C>T	ENST00000298119.4	+	4	2668	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	493	Fibronectin type-III.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATGATGATGGCATCACTTCCC	0.458										HNSCC(30;0.082)			False	0	False	14:42360546	0	T	42360546	C	T	42360546	2	4	88	1	0	0	0	0	0	0	0	1	9003	697	25	2		2	LRFN5	14	42360546	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	42360546	64988994	14120	21832											
FSCB	84075	broad.mit.edu	37	chr14	44973805	44973805	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcattggtattagacaaatCtttaaggacagaattgattt	7	4	2	3	rs75354082	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44973805C>T	ENST00000340446.4	-	1	2677	c.2386G>A	c.(2386-2388)Gat>Aat	p.D796N		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	796						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTAGACAAATCTTTAAGGACA	0.383													False	0	True	14:44973805	0	T	44973805	C	T	44973805	3	4	88	1	0	0	0	0	1	0	0	0	6108	913	32	2	95	2	FSCB	14	44973805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2613259	44973805	62375735	14121	21833											
FSCB	84075	broad.mit.edu	37	chr14	44974140	44974140	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagtctcctcagctggtagaGactgaacttcagcaggggcc	13	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44974140G>T	ENST00000340446.4	-	1	2342	c.2051C>A	c.(2050-2052)tCt>tAt	p.S684Y		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	684						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTGGTAGAGACTGAACTTC	0.592													False	0	False	14:44974140	0	T	44974140	G	T	44974140	3	4	88	1	0	0	0	0	1	0	0	0	6108	942	33	3	430	3	FSCB	14	44974140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	335	44974140	62375400	14122	21834											
FSCB	84075	broad.mit.edu	37	chr14	44974963	44974963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgggaggctctactttagCtggggcctcttcaagggcgc	15	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44974963C>T	ENST00000340446.4	-	1	1519	c.1228G>A	c.(1228-1230)Gct>Act	p.A410T		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	410	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTACTTTAGCTGGGGCCTCT	0.512													False	0	False	14:44974963	0	T	44974963	C	T	44974963	3	4	88	1	0	0	0	0	1	0	0	0	6108	797	28	2	1253	2	FSCB	14	44974963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	823	44974963	62374577	14123	21835											
FAM179B	23116	broad.mit.edu	37	chr14	45431649	45431649	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggctgccccctccgcgctgCttctgctgccgccctttcca	9	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45431649C>A	ENST00000361462.2	+	1	208	c.25C>A	c.(25-27)Ctt>Att	p.L9I	FAM179B_ENST00000382233.2_Missense_Mutation_p.L9I|FAM179B_ENST00000361577.3_Missense_Mutation_p.L9I			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	9							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTCCGCGCTGCTTCTGCTGCC	0.612													False	0	False	14:45431649	0	A	45431649	C	A	45431649	3	1	88	1	0	0	0	0	1	0	0	0	5542	797	28	3	27	3	FAM179B	14	45431649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	456686	45431649	61917891	14124	21836											
FAM179B	23116	broad.mit.edu	37	chr14	45431712	45431712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccgcagtcgtccttccGccccagagaccgatgatagt	11	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45431712G>A	ENST00000361462.2	+	1	271	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	FAM179B_ENST00000382233.2_Missense_Mutation_p.A30T|FAM179B_ENST00000361577.3_Missense_Mutation_p.A30T			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	30							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCGTCCTTCCGCCCCAGAGAC	0.617													False	0	True	14:45431712	0	A	45431712	G	A	45431712	3	1	88	1	0	0	0	0	1	0	0	0	5542	1087	38	1	90	1	FAM179B	14	45431712	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	45431712	61917828	14125	21837											
FAM179B	23116	broad.mit.edu	37	chr14	45432435	45432435	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggtgatcaggagacagaaGaagaatctgagacagctttc	12	6	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432435G>A	ENST00000361462.2	+	1	994	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	FAM179B_ENST00000382233.2_Missense_Mutation_p.E271K|FAM179B_ENST00000361577.3_Missense_Mutation_p.E271K			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	271							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGAGACAGAAGAAGAATCTGA	0.493													False	0	True	14:45432435	0	A	45432435	G	A	45432435	3	1	88	1	0	0	0	0	1	0	0	0	5542	943	33	2	813	2	FAM179B	14	45432435	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	723	45432435	61917105	14126	21838											
FAM179B	23116	broad.mit.edu	37	chr14	45432455	45432455	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagaatctgagacagctttCtccgcacttcaacaaattgg	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432455C>A	ENST00000361462.2	+	1	1014	c.831C>A	c.(829-831)ttC>ttA	p.F277L	FAM179B_ENST00000382233.2_Missense_Mutation_p.F277L|FAM179B_ENST00000361577.3_Missense_Mutation_p.F277L			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	277							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGACAGCTTTCTCCGCACTTC	0.507													False	0	True	14:45432455	0	A	45432455	C	A	45432455	3	1	88	1	0	0	0	0	1	0	0	0	5542	912	32	3	833	3	FAM179B	14	45432455	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	45432455	61917085	14127	21839											
FAM179B	23116	broad.mit.edu	37	chr14	45432488	45432488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaattggggagcgacttggCcaagacaggtttcaatctta	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432488C>T	ENST00000361462.2	+	1	1047	c.864C>T	c.(862-864)ggC>ggT	p.G288G	FAM179B_ENST00000382233.2_Silent_p.G288G|FAM179B_ENST00000361577.3_Silent_p.G288G			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	288							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGCGACTTGGCCAAGACAGGT	0.493													False	0	False	14:45432488	0	T	45432488	C	T	45432488	2	4	88	1	0	0	0	0	0	0	0	1	5542	726	26	2		2	FAM179B	14	45432488	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	45432488	61917052	14128	21840											
FAM179B	23116	broad.mit.edu	37	chr14	45433278	45433278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccagcatcctttttaaaGctgtggatacagttgaactg	8	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45433278G>A	ENST00000361462.2	+	1	1837	c.1654G>A	c.(1654-1656)Gct>Act	p.A552T	KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000382233.2_Missense_Mutation_p.A552T|FAM179B_ENST00000361577.3_Missense_Mutation_p.A552T			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	552							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CCTTTTTAAAGCTGTGGATAC	0.468													False	0	True	14:45433278	0	A	45433278	G	A	45433278	3	1	88	1	0	0	0	0	1	0	0	0	5542	971	34	2	1656	2	FAM179B	14	45433278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	790	45433278	61916262	14129	21841											
PRPF39	55015	broad.mit.edu	37	chr14	45571884	45571884	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattccaacacagctgtataGtcatcattttcagaggtagg	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45571884G>T	ENST00000355765.6	+	5	892	c.722G>T	c.(721-723)aGt>aTt	p.S241I		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	241					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						CAGCTGTATAGTCATCATTTT	0.338													False	0	False	14:45571884	0	T	45571884	G	T	45571884	3	4	88	1	0	0	0	0	1	0	0	0	12645	1029	36	3	736	3	PRPF39	14	45571884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138606	45571884	61777656	14130	21842											
FANCM	57697	broad.mit.edu	37	chr14	45605403	45605403	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcggacgatgatgtgTtgcttgtcgcggcgtacgag	17	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45605403T>C	ENST00000267430.5	+	1	254	c.169T>C	c.(169-171)Ttg>Ctg	p.L57L	FANCM_ENST00000556036.1_Silent_p.L57L|FANCM_ENST00000542564.2_Silent_p.L57L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	57					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CGATGATGTGTTGCTTGTCGC	0.632								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	14:45605403	0	C	45605403	T	C	45605403	2	2	88	1	0	0	0	0	0	0	0	1	5711	1722	60	4		4	FANCM	14	45605403	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33519	45605403	61744137	14131	21843											
FANCM	57697	broad.mit.edu	37	chr14	45636216	45636216	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctatttcaagtaacaggcagGtccttcatttttaccaaaga	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45636216G>C	ENST00000267430.5	+	11	1937	c.1852G>C	c.(1852-1854)Gtc>Ctc	p.V618L	FANCM_ENST00000556036.1_Missense_Mutation_p.V618L|FANCM_ENST00000542564.2_Missense_Mutation_p.V592L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	618	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAACAGGCAGGTCCTTCATTT	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	True	14:45636216	0	C	45636216	G	C	45636216	3	2	88	1	0	0	0	0	1	0	0	0	5711	1261	44	5	1894	5	FANCM	14	45636216	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30813	45636216	61713324	14132	21844											
FANCM	57697	broad.mit.edu	37	chr14	45645252	45645252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatttagtacctaacaatCgtgttcaaatacacagaagc	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45645252C>T	ENST00000267430.5	+	14	3380	c.3295C>T	c.(3295-3297)Cgt>Tgt	p.R1099C	FANCM_ENST00000542564.2_Missense_Mutation_p.R1073C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1099					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ACCTAACAATCGTGTTCAAAT	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	14:45645252	0	T	45645252	C	T	45645252	3	4	88	1	0	0	0	0	1	0	0	0	5711	884	31	1	3349	1	FANCM	14	45645252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9036	45645252	61704288	14133	21845											
FANCM	57697	broad.mit.edu	37	chr14	45658561	45658561	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaaaatttccagttccacAgaaggtatggatcaaagaaa	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45658561A>C	ENST00000267430.5	+	20	5421	c.5336A>C	c.(5335-5337)cAg>cCg	p.Q1779P	FANCM_ENST00000542564.2_Missense_Mutation_p.Q1753P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1779	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CCAGTTCCACAGAAGGTATGG	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	14:45658561	0	C	45658561	A	C	45658561	3	2	88	1	0	0	0	0	1	0	0	0	5711	188	7	4	5414	4	FANCM	14	45658561	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13309	45658561	61690979	14134	21846											
FANCM	57697	broad.mit.edu	37	chr14	45667953	45667953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcctgccaagaagaaacCgcagatttgctaaaggaact	9	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45667953C>T	ENST00000267430.5	+	22	5908	c.5823C>T	c.(5821-5823)acC>acT	p.T1941T	FANCM_ENST00000542564.2_Silent_p.T1915T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1941	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGAAGAAACCGCAGATTTGC	0.413								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	14:45667953	0	T	45667953	C	T	45667953	2	4	88	1	0	0	0	0	0	0	0	1	5711	639	23	1		1	FANCM	14	45667953	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9392	45667953	61681587	14135	21847											
RPL10L	140801	broad.mit.edu	37	chr14	47120482	47120482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaacttgaacttggccctgCgcaaggcttcaatcacatgc	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47120482C>T	ENST00000298283.3	-	1	546	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	153					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CTTGGCCCTGCGCAAGGCTTC	0.517													False	0	False	14:47120482	0	T	47120482	C	T	47120482	3	4	88	1	0	0	0	0	1	0	0	0	13635	768	27	1	190	1	RPL10L	14	47120482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1452529	47120482	60229058	14136	21848											
RPL10L	140801	broad.mit.edu	37	chr14	47120892	47120892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaaacgagattttgggtaCggcttgttcttacaataccg	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47120892C>T	ENST00000298283.3	-	1	136	c.48G>A	c.(46-48)ccG>ccA	p.P16P		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	16					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ATTTTGGGTACGGCTTGTTCT	0.537													False	0	False	14:47120892	0	T	47120892	C	T	47120892	2	4	88	1	0	0	0	0	0	0	0	1	13635	523	19	1		1	RPL10L	14	47120892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410	47120892	60228648	14137	21849											
MDGA2	161357	broad.mit.edu	37	chr14	47324240	47324240	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcttacctgaaatgaagtaAttgggtatatattaacatga	7	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47324240A>T	ENST00000426342.1	-	15	2722	c.1976T>A	c.(1975-1977)aTt>aAt	p.I659N	MDGA2_ENST00000439988.3_Missense_Mutation_p.I957N|MDGA2_ENST00000357362.3_Missense_Mutation_p.I659N|MDGA2_ENST00000399222.3_Missense_Mutation_p.I90N|MDGA2_ENST00000399232.2_Missense_Mutation_p.I888N	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	888					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAATGAAGTAATTGGGTATAT	0.323													False	0	False	14:47324240	0	T	47324240	A	T	47324240	3	4	88	1	0	0	0	0	1	0	0	0	9474	101	4	5	219	5	MDGA2	14	47324240	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203348	47324240	60025300	14138	21850											
MDGA2	161357	broad.mit.edu	37	chr14	47504353	47504353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcataactctccatttgCattgatccatcaggcattgc	5	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47504353C>T	ENST00000426342.1	-	8	1532	c.786G>A	c.(784-786)atG>atA	p.M262I	MDGA2_ENST00000439988.3_Missense_Mutation_p.M560I|MDGA2_ENST00000357362.3_Missense_Mutation_p.M262I|MDGA2_ENST00000399232.2_Missense_Mutation_p.M491I	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	491	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTCCATTTGCATTGATCCAT	0.408													False	0	False	14:47504353	0	T	47504353	C	T	47504353	3	4	88	1	0	0	0	0	1	0	0	0	9474	710	25	2	1437	2	MDGA2	14	47504353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180113	47504353	59845187	14139	21851											
MGAT2	4247	broad.mit.edu	37	chr14	50088031	50088031	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaggtgctaatcctgacgctCgtggtggccgcctgcggctt	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50088031C>A	ENST00000305386.2	+	1	543	c.45C>A	c.(43-45)ctC>ctA	p.L15L	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	15					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCTGACGCTCGTGGTGGCCG	0.672													False	0	False	14:50088031	0	A	50088031	C	A	50088031	2	1	88	1	0	0	0	0	0	0	0	1	9610	871	31	3		3	MGAT2	14	50088031	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2583678	50088031	57261509	14140	21852											
POLE2	5427	broad.mit.edu	37	chr14	50117144	50117145	+	Frame_Shift_Ins	INS	-	-	ACCCT													gtcagatgtccttgggataaINSgatagtctttacaaactaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50117144_50117145insACCCT	ENST00000539565.2	-	16	1475_1476	c.1257_1258insAGGGT	c.(1255-1260)atcttafs	p.L420fs	POLE2_ENST00000216367.5_Frame_Shift_Ins_p.L446fs|POLE2_ENST00000554396.1_Frame_Shift_Ins_p.L446fs|POLE2_ENST00000556584.1_5'UTR	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	446					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	p.I445M(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					CCTTGGGATAAGATAGTCTTTA	0.356													False	0	False	14:50117144	0	ACCCT	50117145	-	ACCCT	50117144	7	5	88	1	0	1	1	0	0	0	0	0	12266	69	3	0	259	0	POLE2	14	50117144	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	29113	50117144	57232396	14141	21853	236	2									
POLE2	5427	broad.mit.edu	37	chr14	50117145	50117146	+	In_Frame_Ins	INS	-	-	TAAGAATGTAGTTAATCTTAT													tcagatgtccttgggataagINSatagtctttacaaactacaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50117145_50117146insTAAGAATGTAGTTAATCTTAT	ENST00000539565.2	-	16	1474_1475	c.1256_1257insATAAGATTAACTACATTCTTA	c.(1255-1257)atc>atATAAGATTAACTACATTCTTAc	p.419_420ins*D*LHSY	POLE2_ENST00000216367.5_In_Frame_Ins_p.445_446ins*D*LHSY|POLE2_ENST00000554396.1_In_Frame_Ins_p.445_446ins*D*LHSY|POLE2_ENST00000556584.1_5'UTR	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	445					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	p.I445M(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					CTTGGGATAAGATAGTCTTTAC	0.356													False	0	False	14:50117145	0	TAAGAATGTAGTTAATCTTAT	50117146	-	TAAGAATGTAGTTAATCTTAT	50117145	7	5	88	1	0	1	1	0	0	0	0	0	12266	932	33	0	260	0	POLE2	14	50117145	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1	50117145	57232395	14142	21854	236	2									
POLE2	5427	broad.mit.edu	37	chr14	50118009	50118009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattaggaatagccaaattgCtgctaggaaaacggacgcag	12	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50118009C>T	ENST00000539565.2	-	15	1438	c.1220G>A	c.(1219-1221)aGc>aAc	p.S407N	POLE2_ENST00000554396.1_Missense_Mutation_p.S433N|POLE2_ENST00000216367.5_Missense_Mutation_p.S433N|POLE2_ENST00000556584.1_5'UTR	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	433					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					AGCCAAATTGCTGCTAGGAAA	0.318													False	0	False	14:50118009	0	T	50118009	C	T	50118009	3	4	88	1	0	0	0	0	1	0	0	0	12266	797	28	2	301	2	POLE2	14	50118009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	864	50118009	57231531	14143	21855											
KLHDC1	122773	broad.mit.edu	37	chr14	50218425	50218425	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgggctgcagctaatcacCgagaagaacaaagagtccaa	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50218425C>T	ENST00000359332.2	+	13	1246	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	386						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AGCTAATCACCGAGAAGAACA	0.284													False	0	False	14:50218425	0	T	50218425	C	T	50218425	4	4	88	1	0	0	0	0	0	1	0	0	8404	644	23	1	1206	1	KLHDC1	14	50218425	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100416	50218425	57131115	14144	21856											
SOS2	6655	broad.mit.edu	37	chr14	50641224	50641224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactggcaccagcataagaCgtggaaggacataacgaact	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50641224C>T	ENST00000216373.5	-	8	1290	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Intron	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	339	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.R339H(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAGCATAAGACGTGGAAGGAC	0.378													False	0	False	14:50641224	0	T	50641224	C	T	50641224	3	4	88	1	0	0	0	0	1	0	0	0	15017	536	19	1	3046	1	SOS2	14	50641224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	422799	50641224	56708316	14145	21857											
L2HGDH	79944	broad.mit.edu	37	chr14	50768820	50768820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacacataatttggctttcAgagactcaggtttataataa	7	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50768820A>G	ENST00000267436.4	-	3	720	c.323T>C	c.(322-324)cTg>cCg	p.L108P	L2HGDH_ENST00000555423.1_Missense_Mutation_p.L108P|L2HGDH_ENST00000555610.1_Missense_Mutation_p.L108P|L2HGDH_ENST00000261699.4_Missense_Mutation_p.L108P|L2HGDH_ENST00000421284.3_Missense_Mutation_p.L108P|L2HGDH_ENST00000556393.1_5'UTR			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	108					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TTTGGCTTTCAGAGACTCAGG	0.408													False	0	False	14:50768820	0	G	50768820	A	G	50768820	3	3	88	1	0	0	0	0	1	0	0	0	8641	188	7	4	1100	4	L2HGDH	14	50768820	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	127596	50768820	56580720	14146	21858											
CDKL1	8814	broad.mit.edu	37	chr14	50799011	50799011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtaaagcagtggtgctttCggctctttcttagggtcttc	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50799011C>T	ENST00000395834.1	-	8	965	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	CDKL1_ENST00000216378.2_3'UTR|ATP5S_ENST00000358473.1_Intron	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	312						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	p.R313Q(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GTGGTGCTTTCGGCTCTTTCT	0.418													False	0	True	14:50799011	0	T	50799011	C	T	50799011	3	4	88	1	0	0	0	0	1	0	0	0	3176	884	31	1	146	1	CDKL1	14	50799011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30191	50799011	56550529	14147	21859											
ATL1	51062	broad.mit.edu	37	chr14	51094994	51094994	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccacactgtttgtagtcatCtttatcacatatgtgattgc	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51094994C>T	ENST00000441560.2	+	13	1846	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	ATL1_ENST00000357032.3_Silent_p.I455I|ATL1_ENST00000354525.4_Silent_p.I455I|ATL1_ENST00000358385.6_Silent_p.I455I	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	455	Sufficient for membrane association.				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TTGTAGTCATCTTTATCACAT	0.398													False	0	True	14:51094994	0	T	51094994	C	T	51094994	2	4	88	1	0	0	0	0	0	0	0	1	1110	903	32	2		2	ATL1	14	51094994	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295983	51094994	56254546	14148	21860											
NIN	51199	broad.mit.edu	37	chr14	51221342	51221342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttgttttacagtttccGttttttgcctaaaaggaatg	7	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51221342G>A	ENST00000245441.5	-	20	4863	c.4673C>T	c.(4672-4674)aCg>aTg	p.T1558M	NIN_ENST00000453196.1_Missense_Mutation_p.T1558M|NIN_ENST00000389868.3_Missense_Mutation_p.T845M|NIN_ENST00000382043.4_Missense_Mutation_p.T845M|NIN_ENST00000324330.9_Missense_Mutation_p.T1558M|NIN_ENST00000382041.3_Missense_Mutation_p.T1558M|NIN_ENST00000530997.2_Missense_Mutation_p.T1558M	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1558					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TACAGTTTCCGTTTTTTGCCT	0.274			T	PDGFRB	MPD								False	0	True	14:51221342	0	A	51221342	G	A	51221342	3	1	88	1	0	0	0	0	1	0	0	0	10485	1145	40	1	1924	1	NIN	14	51221342	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126348	51221342	56128198	14149	21861											
NIN	51199	broad.mit.edu	37	chr14	51223934	51223934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctagtgcctcatcgtagcGtgtctccatcattctcagct	7	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51223934G>A	ENST00000245441.5	-	18	4004	c.3814C>T	c.(3814-3816)Cgc>Tgc	p.R1272C	NIN_ENST00000453196.1_Missense_Mutation_p.R1272C|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.R1272C|NIN_ENST00000382041.3_Missense_Mutation_p.R1272C|NIN_ENST00000530997.2_Missense_Mutation_p.R1272C	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1272					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCATCGTAGCGTGTCTCCATC	0.443			T	PDGFRB	MPD								False	0	False	14:51223934	0	A	51223934	G	A	51223934	3	1	88	1	0	0	0	0	1	0	0	0	10485	1145	40	1	2791	1	NIN	14	51223934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2592	51223934	56125606	14150	21862											
NIN	51199	broad.mit.edu	37	chr14	51224230	51224230	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaccctctactgaagcttcaGactcctctattttgacttcc	4	14	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51224230G>A	ENST00000245441.5	-	18	3708	c.3518C>T	c.(3517-3519)tCt>tTt	p.S1173F	NIN_ENST00000453196.1_Missense_Mutation_p.S1173F|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.S1173F|NIN_ENST00000382041.3_Missense_Mutation_p.S1173F|NIN_ENST00000530997.2_Missense_Mutation_p.S1173F	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1173					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGAAGCTTCAGACTCCTCTAT	0.493			T	PDGFRB	MPD								False	0	False	14:51224230	0	A	51224230	G	A	51224230	3	1	88	1	0	0	0	0	1	0	0	0	10485	942	33	2	3087	2	NIN	14	51224230	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296	51224230	56125310	14151	21863											
NIN	51199	broad.mit.edu	37	chr14	51224357	51224357	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctacttgcttcgttcGgttttgctgtaaaaactgct	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51224357G>A	ENST00000245441.5	-	18	3581	c.3391C>T	c.(3391-3393)Cga>Tga	p.R1131*	NIN_ENST00000453196.1_Nonsense_Mutation_p.R1131*|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Nonsense_Mutation_p.R1131*|NIN_ENST00000382041.3_Nonsense_Mutation_p.R1131*|NIN_ENST00000530997.2_Nonsense_Mutation_p.R1131*	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1131					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGCTTCGTTCGGTTTTGCTGT	0.483			T	PDGFRB	MPD								False	0	True	14:51224357	0	A	51224357	G	A	51224357	4	1	88	1	0	0	0	0	0	1	0	0	10485	1124	39	1	3214	1	NIN	14	51224357	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	127	51224357	56125183	14152	21864											
NIN	51199	broad.mit.edu	37	chr14	51239168	51239168	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaggttgtggtacgtcGtccactctcatcgaaagact	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51239168G>A	ENST00000245441.5	-	9	1022	c.832C>T	c.(832-834)Cga>Tga	p.R278*	NIN_ENST00000453196.1_Nonsense_Mutation_p.R278*|NIN_ENST00000389868.3_Nonsense_Mutation_p.R278*|NIN_ENST00000382043.4_Nonsense_Mutation_p.R278*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R278*|NIN_ENST00000382041.3_Nonsense_Mutation_p.R278*|NIN_ENST00000530997.2_Nonsense_Mutation_p.R278*	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	278					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTGGTACGTCGTCCACTCTCA	0.498			T	PDGFRB	MPD								False	0	False	14:51239168	0	A	51239168	G	A	51239168	4	1	88	1	0	0	0	0	0	1	0	0	10485	1153	40	1	5809	1	NIN	14	51239168	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14811	51239168	56110372	14153	21865											
PYGL	5836	broad.mit.edu	37	chr14	51378884	51378884	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgactcacggttgtacatCgtgatcacatgcagacagtt	10	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51378884C>T	ENST00000216392.7	-	14	2090	c.1758G>A	c.(1756-1758)acG>acA	p.T586T	PYGL_ENST00000532462.1_Silent_p.T586T|PYGL_ENST00000544180.2_Silent_p.T552T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	586					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GGTTGTACATCGTGATCACAT	0.512													False	0	False	14:51378884	0	T	51378884	C	T	51378884	2	4	88	1	0	0	0	0	0	0	0	1	12940	871	31	1		1	PYGL	14	51378884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139716	51378884	55970656	14154	21866											
PYGL	5836	broad.mit.edu	37	chr14	51378995	51378995	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actttgtactccgtctccagGaactgagaaaacttcagctt	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51378995G>A	ENST00000216392.7	-	14	1979	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	PYGL_ENST00000532462.1_Silent_p.F549F|PYGL_ENST00000544180.2_Silent_p.F515F|RP11-218E20.5_ENST00000557343.1_RNA	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	549					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CCGTCTCCAGGAACTGAGAAA	0.448													False	0	False	14:51378995	0	A	51378995	G	A	51378995	2	1	88	1	0	0	0	0	0	0	0	1	12940	1165	41	2		2	PYGL	14	51378995	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	51378995	55970545	14155	21867											
PYGL	5836	broad.mit.edu	37	chr14	51382068	51382068	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcacactttagtcttcacGatgtctgagtggattttagc	9	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51382068G>A	ENST00000216392.7	-	11	1721	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	PYGL_ENST00000532462.1_Silent_p.I463I|PYGL_ENST00000544180.2_Silent_p.I429I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	463					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	p.I463I(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TAGTCTTCACGATGTCTGAGT	0.473													False	0	False	14:51382068	0	A	51382068	G	A	51382068	2	1	88	1	0	0	0	0	0	0	0	1	12940	1048	37	1		1	PYGL	14	51382068	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3073	51382068	55967472	14156	21868											
FRMD6	122786	broad.mit.edu	37	chr14	52167809	52167809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatggagttgtcacaaaagCtttacaaatattgtccaaaa	6	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52167809C>T	ENST00000395718.2	+	4	511	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	FRMD6_ENST00000344768.5_Missense_Mutation_p.L76F|FRMD6_ENST00000356218.4_Missense_Mutation_p.L76F|FRMD6_ENST00000554167.1_Missense_Mutation_p.L7F	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	76	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GTCACAAAAGCTTTACAAATA	0.308													False	0	True	14:52167809	0	T	52167809	C	T	52167809	3	4	88	1	0	0	0	0	1	0	0	0	6096	797	28	2	236	2	FRMD6	14	52167809	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	785741	52167809	55181731	14157	21869											
FRMD6	122786	broad.mit.edu	37	chr14	52182142	52182142	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagacacctcctgcaacttCtgagcaacagccaccgcctc	6	19	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52182142C>T	ENST00000395718.2	+	10	1210	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	FRMD6_ENST00000344768.5_Silent_p.L317L|FRMD6_ENST00000356218.4_Silent_p.L309L|FRMD6_ENST00000554167.1_Silent_p.L240L	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	317	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCTGCAACTTCTGAGCAACAG	0.542													False	0	False	14:52182142	0	T	52182142	C	T	52182142	2	4	88	1	0	0	0	0	0	0	0	1	6096	912	32	2		2	FRMD6	14	52182142	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14333	52182142	55167398	14158	21870											
NID2	22795	broad.mit.edu	37	chr14	52493938	52493938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgcactggtgcccatcGccggcataaccaggcaggca	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52493938G>A	ENST00000216286.5	-	12	2654	c.2655C>T	c.(2653-2655)ggC>ggT	p.G885G	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	885	EGF-like 4.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGTGCCCATCGCCGGCATAAC	0.577													False	0	False	14:52493938	0	A	52493938	G	A	52493938	2	1	88	1	0	0	0	0	0	0	0	1	10483	1074	38	1		1	NID2	14	52493938	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311796	52493938	54855602	14159	21871											
NID2	22795	broad.mit.edu	37	chr14	52534638	52534638	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctacctgctcccaggtggCcaggaaggcgtgggtggggg	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52534638C>A	ENST00000216286.5	-	2	471	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S	NID2_ENST00000541773.1_Missense_Mutation_p.A105S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	158	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCCCAGGTGGCCAGGAAGGCG	0.667													False	0	False	14:52534638	0	A	52534638	C	A	52534638	3	1	88	1	0	0	0	0	1	0	0	0	10483	739	26	3	3739	3	NID2	14	52534638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40700	52534638	54814902	14160	21872											
PTGDR	5729	broad.mit.edu	37	chr14	52735160	52735160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actccagcctcatggcgctgCtggtcctcgccaccgtgctg	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52735160C>A	ENST00000306051.2	+	1	730	c.628C>A	c.(628-630)Ctg>Atg	p.L210M	PTGDR_ENST00000553372.1_Missense_Mutation_p.L210M	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	210						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CATGGCGCTGCTGGTCCTCGC	0.667													False	0	False	14:52735160	0	A	52735160	C	A	52735160	3	1	88	1	0	0	0	0	1	0	0	0	12817	796	28	3	630	3	PTGDR	14	52735160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200522	52735160	54614380	14161	21873											
PTGDR	5729	broad.mit.edu	37	chr14	52735331	52735331	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctggatcacctcctgctgCtggcgctgatgaccgtgctc	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52735331C>A	ENST00000306051.2	+	1	901	c.799C>A	c.(799-801)Ctg>Atg	p.L267M	PTGDR_ENST00000553372.1_Missense_Mutation_p.L267M	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	267						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CCTCCTGCTGCTGGCGCTGAT	0.687													False	0	True	14:52735331	0	A	52735331	C	A	52735331	3	1	88	1	0	0	0	0	1	0	0	0	12817	796	28	3	801	3	PTGDR	14	52735331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171	52735331	54614209	14162	21874											
TXNDC16	57544	broad.mit.edu	37	chr14	52957612	52957612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccaagcaacccattctgCagttcttctatcagcttcat	5	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52957612C>T	ENST00000281741.4	-	10	1239	c.868G>A	c.(868-870)Gca>Aca	p.A290T	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	290					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACCCATTCTGCAGTTCTTCTA	0.393													False	0	False	14:52957612	0	T	52957612	C	T	52957612	3	4	88	1	0	0	0	0	1	0	0	0	16879	710	25	2	1657	2	TXNDC16	14	52957612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222281	52957612	54391928	14163	21875											
TXNDC16	57544	broad.mit.edu	37	chr14	52978026	52978026	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcaatggctgttccattaGtgttcttctacattgctggg	10	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52978026G>T	ENST00000281741.4	-	9	1059	c.688C>A	c.(688-690)Cta>Ata	p.L230I	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	230					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGTTCCATTAGTGTTCTTCTA	0.333													False	0	False	14:52978026	0	T	52978026	G	T	52978026	3	4	88	1	0	0	0	0	1	0	0	0	16879	1020	36	3	1841	3	TXNDC16	14	52978026	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20414	52978026	54371514	14164	21876											
FERMT2	10979	broad.mit.edu	37	chr14	53348188	53348188	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcttgaatatatacttcCtaataagtaacatgaaaaac	6	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53348188C>A	ENST00000395631.2	-	5	743		c.e5-1		FERMT2_ENST00000399304.3_Splice_Site|FERMT2_ENST00000343279.4_Splice_Site|FERMT2_ENST00000341590.3_Splice_Site|FERMT2_ENST00000553373.1_Splice_Site			Q96AC1	FERM2_HUMAN	fermitin family member 2						actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TATATACTTCCTAATAAGTAA	0.353													False	0	False	14:53348188	0	A	53348188	C	A	53348188	5	1	88	1	0	0	0	0	0	0	1	0	5858	695	24	3	1597	3	FERMT2	14	53348188	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	370162	53348188	54001352	14165	21877											
DDHD1	0	broad.mit.edu	37	chr14	53518626	53518626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgtgggagattaaagaaCgattcttgaagtctgaaatc	11	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53518626C>T	ENST00000323669.5	-	12	2456	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000357758.3_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	819	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GATTAAAGAACGATTCTTGAA	0.358													False	0	False	14:53518626	0	T	53518626	C	T	53518626	2	4	88	1	0	0	0	0	0	0	0	1	4351	523	19	1		1	DDHD1	14	53518626	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170438	53518626	53830914	14166	21878											
DDHD1	0	broad.mit.edu	37	chr14	53540518	53540518	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaattcaacatgtgttgcaTggttggaaaaatgcctttct	9	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53540518T>C	ENST00000357758.3	-	5	1520	c.1337A>G	c.(1336-1338)cAt>cGt	p.H446R	DDHD1_ENST00000395606.1_Missense_Mutation_p.H453R|DDHD1_ENST00000323669.5_Missense_Mutation_p.H446R	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	446					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATGTGTTGCATGGTTGGAAAA	0.328													False	0	False	14:53540518	0	C	53540518	T	C	53540518	3	2	88	1	0	0	0	0	1	0	0	0	4351	1464	51	4	1401	4	DDHD1	14	53540518	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21892	53540518	53809022	14167	21879											
DDHD1	0	broad.mit.edu	37	chr14	53558604	53558604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcttgtcttctaatgtGgcttcttctacataacctct	7	10	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53558604G>A	ENST00000357758.3	-	4	1371	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	DDHD1_ENST00000395606.1_Silent_p.A403A|DDHD1_ENST00000323669.5_Silent_p.A396A	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	396					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCTAATGTGGCTTCTTCTA	0.348													False	0	False	14:53558604	0	A	53558604	G	A	53558604	2	1	88	1	0	0	0	0	0	0	0	1	4351	1335	47	2		2	DDHD1	14	53558604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18086	53558604	53790936	14168	21880											
BMP4	652	broad.mit.edu	37	chr14	54417345	54417345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacatcaaaagtttcccacCgtgtcacattgtggtggacc	8	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54417345C>T	ENST00000245451.4	-	4	1025	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	BMP4_ENST00000558984.1_Missense_Mutation_p.R211Q|BMP4_ENST00000559087.1_Missense_Mutation_p.R211Q|BMP4_ENST00000417573.1_Missense_Mutation_p.R211Q	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	211					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AGTTTCCCACCGTGTCACATT	0.537													False	0	False	14:54417345	0	T	54417345	C	T	54417345	3	4	88	1	0	0	0	0	1	0	0	0	1467	652	23	1	598	1	BMP4	14	54417345	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	858741	54417345	52932195	14169	21881											
BMP4	652	broad.mit.edu	37	chr14	54417408	54417408	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaggtgcccaggcaccActtctgctgggggcttcata	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54417408A>G	ENST00000245451.4	-	4	962	c.569T>C	c.(568-570)gTg>gCg	p.V190A	BMP4_ENST00000558984.1_Missense_Mutation_p.V190A|BMP4_ENST00000559087.1_Missense_Mutation_p.V190A|BMP4_ENST00000417573.1_Missense_Mutation_p.V190A	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	190					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CCCAGGCACCACTTCTGCTGG	0.567													False	0	False	14:54417408	0	G	54417408	A	G	54417408	3	3	88	1	0	0	0	0	1	0	0	0	1467	159	6	4	661	4	BMP4	14	54417408	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63	54417408	52932132	14170	21882											
CDKN3	1033	broad.mit.edu	37	chr14	54882622	54882622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatttccctttcagctgctAtggaggacttgggagatctt	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54882622A>G	ENST00000556102.2	+	6	488	c.422A>G	c.(421-423)tAt>tGt	p.Y141C	CDKN3_ENST00000458126.2_Missense_Mutation_p.Y141C|CDKN3_ENST00000395577.2_Missense_Mutation_p.Y95C|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000442975.2_Missense_Mutation_p.Y101C|CDKN3_ENST00000543789.2_Intron|CDKN3_ENST00000335183.6_Missense_Mutation_p.Y141C			Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3	141					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(2)|stomach(1)	3						TTCAGCTGCTATGGAGGACTT	0.343													False	0	False	14:54882622	0	G	54882622	A	G	54882622	3	3	88	1	0	0	0	0	1	0	0	0	3190	449	16	4	444	4	CDKN3	14	54882622	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	465214	54882622	52466918	14171	21883											
CGRRF1	10668	broad.mit.edu	37	chr14	55004875	55004875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtttgttggaaaaggtggGactctctgaaagtgaagttg	14	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55004875G>A	ENST00000216420.7	+	6	905	c.773G>A	c.(772-774)gGa>gAa	p.G258E	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	258					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GAAAAGGTGGGACTCTCTGAA	0.423													False	0	True	14:55004875	0	A	55004875	G	A	55004875	3	1	88	1	0	0	0	0	1	0	0	0	3329	1174	41	2	795	2	CGRRF1	14	55004875	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122253	55004875	52344665	14172	21884											
GCH1	2643	broad.mit.edu	37	chr14	55326402	55326402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacagtcacacttacctcGcaagtttgctgaggccaagg	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55326402G>A	ENST00000491895.2	-	3	694	c.506C>T	c.(505-507)gCg>gTg	p.A169V	GCH1_ENST00000536224.2_Missense_Mutation_p.A169V|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000395514.1_Missense_Mutation_p.A169V|GCH1_ENST00000543643.2_Missense_Mutation_p.A169V	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	169					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding	p.A169E(1)		endometrium(2)|lung(7)|skin(2)	11						CACTTACCTCGCAAGTTTGCT	0.438													False	0	False	14:55326402	0	A	55326402	G	A	55326402	3	1	88	1	0	0	0	0	1	0	0	0	6334	1087	38	1	362	1	GCH1	14	55326402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	321527	55326402	52023138	14173	21885											
WDHD1	11169	broad.mit.edu	37	chr14	55455901	55455901	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcttgctcatcattataGcagcgaataattccaataga	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55455901G>T	ENST00000360586.3	-	13	1436	c.1371C>A	c.(1369-1371)tgC>tgA	p.C457*	WDHD1_ENST00000359167.4_Intron|WDHD1_ENST00000421192.1_Nonsense_Mutation_p.C334*|WDHD1_ENST00000420358.2_Nonsense_Mutation_p.C334*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	457						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATCATTATAGCAGCGAATAA	0.373													False	0	False	14:55455901	0	T	55455901	G	T	55455901	4	4	88	1	0	0	0	0	0	1	0	0	17355	963	34	3	2074	3	WDHD1	14	55455901	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129499	55455901	51893639	14174	21886											
WDHD1	11169	broad.mit.edu	37	chr14	55462511	55462511	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaaagatcattataatcCttttccactctgctagatac	3	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55462511C>A	ENST00000360586.3	-	11	1028	c.963G>T	c.(961-963)aaG>aaT	p.K321N	WDHD1_ENST00000421192.1_Missense_Mutation_p.K198N|WDHD1_ENST00000420358.2_Missense_Mutation_p.K198N	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	321						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATTATAATCCTTTTCCACTC	0.274													False	0	True	14:55462511	0	A	55462511	C	A	55462511	3	1	88	1	0	0	0	0	1	0	0	0	17355	680	24	3	2490	3	WDHD1	14	55462511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6610	55462511	51887029	14175	21887											
SOCS4	122809	broad.mit.edu	37	chr14	55510090	55510090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caataaagaattgtagtagtCggcactcttcagggcttccg	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55510090C>T	ENST00000395472.2	+	2	663	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	SOCS4_ENST00000339298.2_Missense_Mutation_p.R111W|SOCS4_ENST00000555846.1_Missense_Mutation_p.R111W	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	111					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TTGTAGTAGTCGGCACTCTTC	0.428													False	0	False	14:55510090	0	T	55510090	C	T	55510090	3	4	88	1	0	0	0	0	1	0	0	0	14996	875	31	1	333	1	SOCS4	14	55510090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47579	55510090	51839450	14176	21888											
SOCS4	122809	broad.mit.edu	37	chr14	55511079	55511079	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcaccagaacagcaatgCtagtaacaggatgggaacat	11	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55511079C>A	ENST00000395472.2	+	2	1652	c.1320C>A	c.(1318-1320)tgC>tgA	p.C440*	SOCS4_ENST00000339298.2_Nonsense_Mutation_p.C440*|SOCS4_ENST00000555846.1_Nonsense_Mutation_p.C440*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	440					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AACAGCAATGCTAGTAACAGG	0.308													False	0	False	14:55511079	0	A	55511079	C	A	55511079	4	1	88	1	0	0	0	0	0	1	0	0	14996	805	28	3	1322	3	SOCS4	14	55511079	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	989	55511079	51838461	14177	21889											
LGALS3	3958	broad.mit.edu	37	chr14	55605066	55605066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accctgccactggcccctatGgcgcccctgctgggccactg	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55605066G>T	ENST00000254301.9	+	3	583	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	LGALS3_ENST00000553755.1_3'UTR|LGALS3_ENST00000554715.1_Missense_Mutation_p.G108C	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	108	8 X 9 AA tandem repeats of Y-P-G-X(3)-P- G-A.				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3						TGGCCCCTATGGCGCCCCTGC	0.612													False	0	False	14:55605066	0	T	55605066	G	T	55605066	3	4	88	1	0	0	0	0	1	0	0	0	8794	1348	47	3	328	3	LGALS3	14	55605066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93987	55605066	51744474	14178	21890											
DLGAP5	9787	broad.mit.edu	37	chr14	55636179	55636179	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtagtctcctttatacctcGtttatattcacaatcatcaa	4	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55636179G>A	ENST00000247191.2	-	12	1702	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	DLGAP5_ENST00000395425.2_Nonsense_Mutation_p.R496*	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	496					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTATACCTCGTTTATATTCA	0.363													False	0	True	14:55636179	0	A	55636179	G	A	55636179	4	1	88	1	0	0	0	0	0	1	0	0	4593	1153	40	1	1181	1	DLGAP5	14	55636179	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31113	55636179	51713361	14179	21891											
FBXO34	55030	broad.mit.edu	37	chr14	55817495	55817495	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgcatcccaccagtgtagTaacaggataggatctatgaa	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55817495T>C	ENST00000313833.4	+	2	632	c.387T>C	c.(385-387)agT>agC	p.S129S	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Silent_p.S129S	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	129										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ACCAGTGTAGTAACAGGATAG	0.413													False	0	False	14:55817495	0	C	55817495	T	C	55817495	2	2	88	1	0	0	0	0	0	0	0	1	5784	1635	57	4		4	FBXO34	14	55817495	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	181316	55817495	51532045	14180	21892											
FBXO34	55030	broad.mit.edu	37	chr14	55818033	55818033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaaggaataacagcttcCgtcgaaatgtgggcagagta	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55818033C>T	ENST00000313833.4	+	2	1170	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C	FBXO34_ENST00000440021.1_Missense_Mutation_p.R309C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	309										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TAACAGCTTCCGTCGAAATGT	0.537													False	0	False	14:55818033	0	T	55818033	C	T	55818033	3	4	88	1	0	0	0	0	1	0	0	0	5784	652	23	1	927	1	FBXO34	14	55818033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	538	55818033	51531507	14181	21893											
FBXO34	55030	broad.mit.edu	37	chr14	55818571	55818571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgttttttttgccacctgGtcagcacttgtcagactatt	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55818571G>A	ENST00000313833.4	+	2	1708	c.1463G>A	c.(1462-1464)gGt>gAt	p.G488D	FBXO34_ENST00000440021.1_Missense_Mutation_p.G488D	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	488										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TTGCCACCTGGTCAGCACTTG	0.468													False	0	False	14:55818571	0	A	55818571	G	A	55818571	3	1	88	1	0	0	0	0	1	0	0	0	5784	1261	44	2	1465	2	FBXO34	14	55818571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	538	55818571	51530969	14182	21894											
KTN1	0	broad.mit.edu	37	chr14	56103175	56103175	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaataccaaggttcaactAcaagaagctgagagaaggtg	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:56103175A>G	ENST00000416613.1	+	9	1542	c.1470A>G	c.(1468-1470)ctA>ctG	p.L490L	KTN1_ENST00000395309.3_Silent_p.L490L|KTN1_ENST00000395314.3_Silent_p.L490L|KTN1_ENST00000438792.2_Silent_p.L490L|KTN1_ENST00000395311.1_Silent_p.L490L|KTN1_ENST00000413890.2_Silent_p.L490L|KTN1_ENST00000395308.1_Silent_p.L490L			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	490					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGGTTCAACTACAAGAAGCTG	0.403			T	RET	papillary thryoid								False	0	False	14:56103175	0	G	56103175	A	G	56103175	2	3	88	1	0	0	0	0	0	0	0	1	8636	378	14	4		4	KTN1	14	56103175	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	284604	56103175	51246365	14183	21895											
OTX2	5015	broad.mit.edu	37	chr14	57268778	57268778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atccttgactataacctgaaGcctgagtataggtcatggga	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57268778G>T	ENST00000339475.5	-	5	845	c.569C>A	c.(568-570)gCt>gAt	p.A190D	OTX2_ENST00000408990.3_Missense_Mutation_p.A182D|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.A182D	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	182					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATAACCTGAAGCCTGAGTATA	0.522													False	0	False	14:57268778	0	T	57268778	G	T	57268778	3	4	88	1	0	0	0	0	1	0	0	0	11389	971	34	3	328	3	OTX2	14	57268778	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1165603	57268778	50080762	14184	21896											
OTX2	5015	broad.mit.edu	37	chr14	57272168	57272168	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggcggttgcttaagataagAcatcatgctaaggttgtttg	12	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57272168A>G	ENST00000339475.5	-	3	283	c.7T>C	c.(7-9)Tct>Cct	p.S3P	OTX2_ENST00000408990.3_Missense_Mutation_p.S3P|OTX2_ENST00000554559.1_Missense_Mutation_p.S3P|OTX2_ENST00000554788.1_Missense_Mutation_p.S3P|OTX2_ENST00000555006.1_Missense_Mutation_p.S3P	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	3					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTAAGATAAGACATCATGCTA	0.562													False	0	True	14:57272168	0	G	57272168	A	G	57272168	3	3	88	1	0	0	0	0	1	0	0	0	11389	275	10	4	898	4	OTX2	14	57272168	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3390	57272168	50077372	14185	21897											
EXOC5	10640	broad.mit.edu	37	chr14	57713495	57713495	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttctttctgacattgttgCtctagtttctctactttcct	5	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57713495C>A	ENST00000413566.2	-	3	563	c.204G>T	c.(202-204)gaG>gaT	p.E68D	EXOC5_ENST00000556911.1_5'UTR|EXOC5_ENST00000340918.7_Missense_Mutation_p.E68D	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	68					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GACATTGTTGCTCTAGTTTCT	0.343													False	0	False	14:57713495	0	A	57713495	C	A	57713495	3	1	88	1	0	0	0	0	1	0	0	0	5339	796	28	3	1986	3	EXOC5	14	57713495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441327	57713495	49636045	14186	21898											
SLC35F4	341880	broad.mit.edu	37	chr14	58063507	58063507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactaaaatattatgtcctgGcttccatacctcctgttcct	4	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58063507G>T	ENST00000339762.6	-	1	108	c.109C>A	c.(109-111)Cca>Aca	p.P37T	SLC35F4_ENST00000554729.1_Intron|SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTATGTCCTGGCTTCCATACC	0.433													False	0	False	14:58063507	0	T	58063507	G	T	58063507	3	4	88	1	0	0	0	0	1	0	0	0	14671	1203	42	3	1488	3	SLC35F4	14	58063507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	350012	58063507	49286033	14187	21899											
C14orf37	145407	broad.mit.edu	37	chr14	58605363	58605363	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgctgtggactcagcAccaggaaaagaagttgtcct	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605363A>C	ENST00000267485.7	-	2	908	c.714T>G	c.(712-714)ggT>ggG	p.G238G	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	238						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGGACTCAGCACCAGGAAAAG	0.502													False	0	False	14:58605363	0	C	58605363	A	C	58605363	2	2	88	1	0	0	0	0	0	0	0	1	1780	146	6	4		4	C14orf37	14	58605363	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	541856	58605363	48744177	14188	21900											
C14orf37	145407	broad.mit.edu	37	chr14	58605508	58605508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gactttcagttgcaaatgatTgattatccatatacttcaga	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605508T>C	ENST00000267485.7	-	2	763	c.569A>G	c.(568-570)cAa>cGa	p.Q190R	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	190						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGCAAATGATTGATTATCCAT	0.393													False	0	True	14:58605508	0	C	58605508	T	C	58605508	3	2	88	1	0	0	0	0	1	0	0	0	1780	1812	63	4	1783	4	C14orf37	14	58605508	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	145	58605508	48744032	14189	21901											
C14orf37	145407	broad.mit.edu	37	chr14	58605812	58605812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgttaatcgagaatgCtttatttaatgatgttgccg	8	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605812C>A	ENST00000267485.7	-	2	459	c.265G>T	c.(265-267)Gca>Tca	p.A89S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	89						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						ATCGAGAATGCTTTATTTAAT	0.478													False	0	True	14:58605812	0	A	58605812	C	A	58605812	3	1	88	1	0	0	0	0	1	0	0	0	1780	797	28	3	2087	3	C14orf37	14	58605812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304	58605812	48743728	14190	21902											
ACTR10	55860	broad.mit.edu	37	chr14	58697142	58697142	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagttgtggaaattctttttGaacaagataatgaagagcaa	9	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58697142G>A	ENST00000254286.4	+	11	894	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	272						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AATTCTTTTTGAACAAGATAA	0.318													False	0	True	14:58697142	0	A	58697142	G	A	58697142	3	1	88	1	0	0	0	0	1	0	0	0	208	1291	45	2	856	2	ACTR10	14	58697142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91330	58697142	48652398	14191	21903											
ARID4A	5926	broad.mit.edu	37	chr14	58811415	58811415	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatattttatctttacagccTgaggaagaacttgatcctga	7	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58811415T>G	ENST00000355431.3	+	12	1282	c.909T>G	c.(907-909)ccT>ccG	p.P303P	ARID4A_ENST00000348476.3_Silent_p.P303P|ARID4A_ENST00000395168.3_Silent_p.P303P|ARID4A_ENST00000431317.2_Silent_p.P303P	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	303					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTTACAGCCTGAGGAAGAAC	0.333													False	0	False	14:58811415	0	G	58811415	T	G	58811415	2	3	88	1	0	0	0	0	0	0	0	1	921	1567	55	4		4	ARID4A	14	58811415	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	114273	58811415	48538125	14192	21904											
ARID4A	5926	broad.mit.edu	37	chr14	58838690	58838690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccccacaaaatgtacttGctgtagaatgcaggtgataa	8	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58838690G>A	ENST00000355431.3	+	24	4130	c.3757G>A	c.(3757-3759)Gct>Act	p.A1253T	ARID4A_ENST00000348476.3_Missense_Mutation_p.A1184T|ARID4A_ENST00000395168.3_Missense_Mutation_p.A1199T|ARID4A_ENST00000431317.2_Missense_Mutation_p.A1184T|RP11-517O13.3_ENST00000556390.1_RNA	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1253					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAATGTACTTGCTGTAGAATG	0.458													False	0	False	14:58838690	0	A	58838690	G	A	58838690	3	1	88	1	0	0	0	0	1	0	0	0	921	1319	46	2	3847	2	ARID4A	14	58838690	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27275	58838690	48510850	14193	21905											
KIAA0586	9786	broad.mit.edu	37	chr14	58949251	58949251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaggaacaagcagtggcGccctccagctttttgttgat	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58949251G>A	ENST00000423743.3	+	22	3091	c.2833G>A	c.(2833-2835)Gcc>Acc	p.A945T	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.A913T|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A1042T|KIAA0586_ENST00000556134.1_Missense_Mutation_p.A974T	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	913										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCAGTGGCGCCCTCCAGCT	0.368													False	0	True	14:58949251	0	A	58949251	G	A	58949251	3	1	88	1	0	0	0	0	1	0	0	0	8236	1087	38	1	2815	1	KIAA0586	14	58949251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110561	58949251	48400289	14194	21906											
KIAA0586	9786	broad.mit.edu	37	chr14	58953763	58953763	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctaccccacagcctacGcctccttgctcaccttcatc	4	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58953763G>A	ENST00000423743.3	+	23	3309	c.3051G>A	c.(3049-3051)acG>acA	p.T1017T	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Silent_p.T985T|KIAA0586_ENST00000354386.6_Silent_p.T1114T|KIAA0586_ENST00000556134.1_Silent_p.T1046T	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	985										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACAGCCTACGCCTCCTTGCT	0.413													False	0	False	14:58953763	0	A	58953763	G	A	58953763	2	1	88	1	0	0	0	0	0	0	0	1	8236	1074	38	1		1	KIAA0586	14	58953763	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4512	58953763	48395777	14195	21907											
DACT1	51339	broad.mit.edu	37	chr14	59105255	59105255	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggagaacatcttgctgctaaGaaagcaattggtaggtcgtg	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59105255G>A	ENST00000395153.3	+	1	482	c.335G>A	c.(334-336)aGa>aAa	p.R112K	DACT1_ENST00000335867.4_Missense_Mutation_p.R112K|DACT1_ENST00000555845.1_Intron|DACT1_ENST00000556859.1_Intron	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	112					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTGCTGCTAAGAAAGCAATTG	0.677													False	0	True	14:59105255	0	A	59105255	G	A	59105255	3	1	88	1	0	0	0	0	1	0	0	0	4247	942	33	2	337	2	DACT1	14	59105255	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151492	59105255	48244285	14196	21908											
DACT1	51339	broad.mit.edu	37	chr14	59112077	59112077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaatttaattcccttgatGtcattgcagatgtgaatccc	6	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59112077G>A	ENST00000335867.4	+	4	760	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	DACT1_ENST00000555845.1_Intron|DACT1_ENST00000395153.3_Intron|DACT1_ENST00000556859.1_Intron|DACT1_ENST00000541264.2_Intron			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	246					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTCCCTTGATGTCATTGCAGA	0.468													False	0	False	14:59112077	0	A	59112077	G	A	59112077	3	1	88	1	0	0	0	0	1	0	0	0	4247	1377	48	2	750	2	DACT1	14	59112077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6822	59112077	48237463	14197	21909											
DACT1	51339	broad.mit.edu	37	chr14	59112781	59112781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccctaaggaaagcgctcaGctctcaggggcctctccaaa	9	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59112781G>T	ENST00000395153.3	+	4	1476	c.1329G>T	c.(1327-1329)caG>caT	p.Q443H	DACT1_ENST00000335867.4_Missense_Mutation_p.Q480H|DACT1_ENST00000556859.1_Missense_Mutation_p.Q199H|DACT1_ENST00000541264.2_Missense_Mutation_p.Q199H	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	480					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AAAGCGCTCAGCTCTCAGGGG	0.557													False	0	False	14:59112781	0	T	59112781	G	T	59112781	3	4	88	1	0	0	0	0	1	0	0	0	4247	962	34	3	1454	3	DACT1	14	59112781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704	59112781	48236759	14198	21910											
DAAM1	23002	broad.mit.edu	37	chr14	59730276	59730276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgatcacccagaaatcacGtatcggctgcgaaatgatag	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59730276G>A	ENST00000395125.1	+	1	104	c.81G>A	c.(79-81)acG>acA	p.T27T	DAAM1_ENST00000360909.3_Silent_p.T27T|DAAM1_ENST00000351081.1_Silent_p.T27T|DAAM1_ENST00000556135.1_Silent_p.T27T	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	27					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAGAAATCACGTATCGGCTGC	0.473													False	0	False	14:59730276	0	A	59730276	G	A	59730276	2	1	88	1	0	0	0	0	0	0	0	1	4240	1132	40	1		1	DAAM1	14	59730276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	617495	59730276	47619264	14199	21911											
DAAM1	23002	broad.mit.edu	37	chr14	59797313	59797313	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatgcagaccttaaataaAatgaaagagaaacttgaaaa	7	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59797313A>C	ENST00000395125.1	+	12	1490	c.1467A>C	c.(1465-1467)aaA>aaC	p.K489N	DAAM1_ENST00000360909.3_Missense_Mutation_p.K489N|DAAM1_ENST00000351081.1_Missense_Mutation_p.K489N	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	489					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCTTAAATAAAATGAAAGAGA	0.448													False	0	True	14:59797313	0	C	59797313	A	C	59797313	3	2	88	1	0	0	0	0	1	0	0	0	4240	11	1	4	1513	4	DAAM1	14	59797313	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67037	59797313	47552227	14200	21912											
DAAM1	23002	broad.mit.edu	37	chr14	59814285	59814285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccaatgacgaaatcaaaCgggcaattctaacaatggac	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59814285C>T	ENST00000395125.1	+	17	2157	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	DAAM1_ENST00000360909.3_Missense_Mutation_p.R702W|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.R712W	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	712	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CGAAATCAAACGGGCAATTCT	0.373													False	0	True	14:59814285	0	T	59814285	C	T	59814285	3	4	88	1	0	0	0	0	1	0	0	0	4240	527	19	1	2200	1	DAAM1	14	59814285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16972	59814285	47535255	14201	21913											
DAAM1	23002	broad.mit.edu	37	chr14	59835462	59835462	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaccttgtttcagctttacGctcaggagaagtgtttgaca	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59835462G>T	ENST00000395125.1	+	25	3145	c.3122G>T	c.(3121-3123)cGc>cTc	p.R1041L	DAAM1_ENST00000360909.3_Missense_Mutation_p.R1031L|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1041L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1041	DAD.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCAGCTTTACGCTCAGGAGAA	0.413													False	0	False	14:59835462	0	T	59835462	G	T	59835462	3	4	88	1	0	0	0	0	1	0	0	0	4240	1087	38	3	3220	3	DAAM1	14	59835462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21177	59835462	47514078	14202	21914											
JKAMP	51528	broad.mit.edu	37	chr14	59970602	59970602	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttctggtcagaaagaaaAgacttattgttctcttcagc	7	8	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59970602A>C	ENST00000554271.1	+	7	1316	c.790A>C	c.(790-792)Aga>Cga	p.R264R	RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000356057.5_Silent_p.R258R|JKAMP_ENST00000261247.9_Silent_p.R250R|JKAMP_ENST00000425728.2_Silent_p.R244R	NM_001284201.1	NP_001271130.1	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	265					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CAGAAAGAAAAGACTTATTGT	0.353													False	0	True	14:59970602	0	C	59970602	A	C	59970602	2	2	88	1	0	0	0	0	0	0	0	1	7999	64	3	4		4	JKAMP	14	59970602	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	135140	59970602	47378938	14203	21915											
RTN1	6252	broad.mit.edu	37	chr14	60074020	60074020	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttgaaagggtggccttcGtcggttttctgcactgcttg	12	10	1	1	rs113101447	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60074020G>A	ENST00000267484.5	-	4	2291	c.1956C>T	c.(1954-1956)gaC>gaT	p.D652D	RTN1_ENST00000342503.4_Silent_p.D84D|RTN1_ENST00000395090.1_Silent_p.D69D|RTN1_ENST00000557422.1_5'UTR	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	652	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGTGGCCTTCGTCGGTTTTCT	0.562													False	0	False	14:60074020	0	A	60074020	G	A	60074020	2	1	88	1	0	0	0	0	0	0	0	1	13804	1136	40	1		1	RTN1	14	60074020	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103418	60074020	47275520	14204	21916											
RTN1	6252	broad.mit.edu	37	chr14	60212623	60212623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggtgatctgaggagccCtgcgctgttcttcagagaga	16	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60212623C>T	ENST00000267484.5	-	2	1153	c.818G>A	c.(817-819)aGg>aAg	p.R273K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	273					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGAGGAGCCCTGCGCTGTTC	0.453													False	0	True	14:60212623	0	T	60212623	C	T	60212623	3	4	88	1	0	0	0	0	1	0	0	0	13804	681	24	2	1609	2	RTN1	14	60212623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138603	60212623	47136917	14205	21917											
C14orf39	317761	broad.mit.edu	37	chr14	60921756	60921756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatcaaatacagaagaaTcaaataaattcaatccaggt	5	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60921756T>C	ENST00000321731.3	-	16	1625	c.1466A>G	c.(1465-1467)gAt>gGt	p.D489G		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	489										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TACAGAAGAATCAAATAAATT	0.308													False	0	False	14:60921756	0	C	60921756	T	C	60921756	3	2	88	1	0	0	0	0	1	0	0	0	1781	1435	50	4	309	4	C14orf39	14	60921756	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	709133	60921756	46427784	14206	21918											
SIX6	4990	broad.mit.edu	37	chr14	60977961	60977961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtccagcgacagcgagtgCgacatctgagttgcccatcc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60977961C>T	ENST00000327720.5	+	2	1180	c.732C>T	c.(730-732)tgC>tgT	p.C244C		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	244					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		ACAGCGAGTGCGACATCTGAG	0.557													False	0	False	14:60977961	0	T	60977961	C	T	60977961	2	4	88	1	0	0	0	0	0	0	0	1	14432	776	27	1		1	SIX6	14	60977961	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56205	60977961	46371579	14207	21919											
SIX1	6495	broad.mit.edu	37	chr14	61113260	61113260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggagagagttggttctgcTtgttggaggaggagttattg	18	2	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61113260T>C	ENST00000247182.6	-	2	868	c.596A>G	c.(595-597)aAg>aGg	p.K199R	SIX1_ENST00000554986.1_Missense_Mutation_p.K26R	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	199					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		TTGGTTCTGCTTGTTGGAGGA	0.428													False	0	False	14:61113260	0	C	61113260	T	C	61113260	3	2	88	1	0	0	0	0	1	0	0	0	14427	1609	56	4	262	4	SIX1	14	61113260	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135299	61113260	46236280	14208	21920											
SIX1	6495	broad.mit.edu	37	chr14	61115456	61115456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctcccgcttctcacgcGgcgatgggtagggattgtgc	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61115456G>A	ENST00000247182.6	-	1	724	c.452C>T	c.(451-453)cCg>cTg	p.P151L	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	151					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CTTCTCACGCGGCGATGGGTA	0.662													False	0	False	14:61115456	0	A	61115456	G	A	61115456	3	1	88	1	0	0	0	0	1	0	0	0	14427	1116	39	1	410	1	SIX1	14	61115456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2196	61115456	46234084	14209	21921											
SIX4	51804	broad.mit.edu	37	chr14	61180513	61180513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagtgttgctgacagatgtcAcagtagatttgcttgccacc	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61180513A>G	ENST00000216513.4	-	3	2017	c.1958T>C	c.(1957-1959)gTg>gCg	p.V653A		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	653						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GACAGATGTCACAGTAGATTT	0.483													False	0	False	14:61180513	0	G	61180513	A	G	61180513	3	3	88	1	0	0	0	0	1	0	0	0	14430	159	6	4	391	4	SIX4	14	61180513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65057	61180513	46169027	14210	21922											
SIX4	51804	broad.mit.edu	37	chr14	61186709	61186709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggaatgagacagggaCactggggctgtaggacgtgg	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61186709C>T	ENST00000216513.4	-	2	1377	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	440						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAGACAGGGACACTGGGGCTG	0.512													False	0	False	14:61186709	0	T	61186709	C	T	61186709	3	4	88	1	0	0	0	0	1	0	0	0	14430	478	17	2	1035	2	SIX4	14	61186709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6196	61186709	46162831	14211	21923											
SIX4	51804	broad.mit.edu	37	chr14	61186943	61186943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatttccattaaggaagaCaggtgaagtacttgcaggta	11	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61186943C>T	ENST00000216513.4	-	2	1143	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	362						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTAAGGAAGACAGGTGAAGTA	0.403													False	0	False	14:61186943	0	T	61186943	C	T	61186943	3	4	88	1	0	0	0	0	1	0	0	0	14430	478	17	2	1269	2	SIX4	14	61186943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	234	61186943	46162597	14212	21924											
TRMT5	57570	broad.mit.edu	37	chr14	61442419	61442419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaactcactgctgcatggCtgcccatctaaaagccactt	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61442419C>T	ENST00000261249.6	-	4	1602	c.1218G>A	c.(1216-1218)caG>caA	p.Q406Q	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	406						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGCTGCATGGCTGCCCATCTA	0.458													False	0	False	14:61442419	0	T	61442419	C	T	61442419	2	4	88	1	0	0	0	0	0	0	0	1	16650	796	28	2		2	TRMT5	14	61442419	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255476	61442419	45907121	14213	21925											
TRMT5	57570	broad.mit.edu	37	chr14	61446005	61446005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtttaggtgtgcaatatgtCcaatcctgctaaaccctgaa	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61446005C>T	ENST00000261249.6	-	2	995	c.611G>A	c.(610-612)gGa>gAa	p.G204E	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	204						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGCAATATGTCCAATCCTGCT	0.368													False	0	False	14:61446005	0	T	61446005	C	T	61446005	3	4	88	1	0	0	0	0	1	0	0	0	16650	855	30	2	934	2	TRMT5	14	61446005	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3586	61446005	45903535	14214	21926											
PRKCH	5583	broad.mit.edu	37	chr14	62014512	62014512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagcctgactcagggaggcGagcacgccatcttgagacat	13	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62014512G>A	ENST00000332981.5	+	13	2198	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	PRKCH_ENST00000555082.1_Missense_Mutation_p.E444K|RP11-47I22.4_ENST00000556347.1_Silent_p.A109A|PRKCH_ENST00000556245.1_3'UTR	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	605	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TCAGGGAGGCGAGCACGCCAT	0.498													False	0	False	14:62014512	0	A	62014512	G	A	62014512	3	1	88	1	0	0	0	0	1	0	0	0	12589	1059	37	1	1863	1	PRKCH	14	62014512	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	568507	62014512	45335028	14215	21927											
HIF1A	3091	broad.mit.edu	37	chr14	62207888	62207888	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagaagccctaacgtgttatCtgtcgctttgagtcaaaggt	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62207888C>A	ENST00000394997.1	+	12	2343	c.2078C>A	c.(2077-2079)tCt>tAt	p.S693Y	HIF1A_ENST00000539097.1_Missense_Mutation_p.S716Y|HIF1A_ENST00000557538.1_Missense_Mutation_p.S633Y|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000337138.4_Missense_Mutation_p.S692Y|HIF1A_ENST00000323441.6_Missense_Mutation_p.S692Y|RP11-618G20.1_ENST00000555937.1_RNA			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	692	ID.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		AACGTGTTATCTGTCGCTTTG	0.333													False	0	False	14:62207888	0	A	62207888	C	A	62207888	3	1	88	1	0	0	0	0	1	0	0	0	7150	913	32	3	2121	3	HIF1A	14	62207888	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193376	62207888	45141652	14216	21928											
SNAPC1	6617	broad.mit.edu	37	chr14	62234006	62234006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgcacagcattttgatgCagcttatatttttaggaagc	8	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62234006C>T	ENST00000216294.4	+	3	469	c.365C>T	c.(364-366)gCa>gTa	p.A122V	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	122	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		CATTTTGATGCAGCTTATATT	0.348													False	0	False	14:62234006	0	T	62234006	C	T	62234006	3	4	88	1	0	0	0	0	1	0	0	0	14914	710	25	2	375	2	SNAPC1	14	62234006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26118	62234006	45115534	14217	21929											
KCNH5	27133	broad.mit.edu	37	chr14	63175128	63175128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcattcttctgccggaggcGctcctcctcctctttcttca	6	17	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63175128G>A	ENST00000322893.7	-	11	2333	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	689					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGCCGGAGGCGCTCCTCCTCC	0.498													False	0	True	14:63175128	0	A	63175128	G	A	63175128	3	1	88	1	0	0	0	0	1	0	0	0	8085	1087	38	1	905	1	KCNH5	14	63175128	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	941122	63175128	44174412	14218	21930											
KCNH5	27133	broad.mit.edu	37	chr14	63246595	63246595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgttcgcacatgcatgggCaagggtggtttccttccaga	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63246595C>T	ENST00000322893.7	-	10	2138	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.A566T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	624					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATGCATGGGCAAGGGTGGTT	0.438													False	0	True	14:63246595	0	T	63246595	C	T	63246595	3	4	88	1	0	0	0	0	1	0	0	0	8085	710	25	2	1138	2	KCNH5	14	63246595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71467	63246595	44102945	14219	21931											
KCNH5	27133	broad.mit.edu	37	chr14	63269112	63269112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaccacaaagcagaggGcatccacactttctccagca	7	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63269112G>A	ENST00000322893.7	-	9	2025	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	KCNH5_ENST00000420622.2_Missense_Mutation_p.A586V|KCNH5_ENST00000394968.1_Missense_Mutation_p.A528V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	586					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAAGCAGAGGGCATCCACACT	0.517													False	0	True	14:63269112	0	A	63269112	G	A	63269112	3	1	88	1	0	0	0	0	1	0	0	0	8085	1203	42	2	1255	2	KCNH5	14	63269112	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22517	63269112	44080428	14220	21932											
KCNH5	27133	broad.mit.edu	37	chr14	63269190	63269190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaactctaccgccaaggcgCgcagacacccatcgctggcc	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63269190C>T	ENST00000322893.7	-	9	1947	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	KCNH5_ENST00000420622.2_Missense_Mutation_p.R560H|KCNH5_ENST00000394968.1_Missense_Mutation_p.R502H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	560					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGCCAAGGCGCGCAGACACCC	0.507													False	0	True	14:63269190	0	T	63269190	C	T	63269190	3	4	88	1	0	0	0	0	1	0	0	0	8085	768	27	1	1333	1	KCNH5	14	63269190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78	63269190	44080350	14221	21933											
KCNH5	27133	broad.mit.edu	37	chr14	63453898	63453898	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgtcaatcgggcaaatttCgtccaaccttaaaaataagg	8	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63453898C>T	ENST00000322893.7	-	5	709	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_ENST00000420622.2_Silent_p.T147T|KCNH5_ENST00000394964.2_Silent_p.T89T|KCNH5_ENST00000394968.1_Silent_p.T89T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388													False	0	True	14:63453898	0	T	63453898	C	T	63453898	2	4	88	1	0	0	0	0	0	0	0	1	8085	871	31	1		1	KCNH5	14	63453898	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184708	63453898	43895642	14222	21934											
KCNH5	27133	broad.mit.edu	37	chr14	63473112	63473112	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtacagaagaacttcaaaGcagtttgattcgtagttgtc	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63473112G>T	ENST00000322893.7	-	3	544	c.276C>A	c.(274-276)tgC>tgA	p.C92*	KCNH5_ENST00000420622.2_Nonsense_Mutation_p.C92*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.C34*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.C34*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	92	PAC.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAACTTCAAAGCAGTTTGATT	0.353													False	0	True	14:63473112	0	T	63473112	G	T	63473112	4	4	88	1	0	0	0	0	0	1	0	0	8085	963	34	3	2760	3	KCNH5	14	63473112	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19214	63473112	43876428	14223	21935											
PPP2R5E	5529	broad.mit.edu	37	chr14	64006314	64006314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaactgtgaggaactttgCgacctcttctgtctggcttt	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64006314C>T	ENST00000337537.3	-	2	692	c.90G>A	c.(88-90)tcG>tcA	p.S30S	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Silent_p.S30S	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	30					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AGGAACTTTGCGACCTCTTCT	0.468													False	0	False	14:64006314	0	T	64006314	C	T	64006314	2	4	88	1	0	0	0	0	0	0	0	1	12470	755	27	1		1	PPP2R5E	14	64006314	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	533202	64006314	43343226	14224	21936											
WDR89	112840	broad.mit.edu	37	chr14	64066119	64066119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactaccatgttgggattgCtgggatggaaacgtacttga	13	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64066119C>T	ENST00000394942.2	-	2	630	c.542G>A	c.(541-543)aGc>aAc	p.S181N	WDR89_ENST00000267522.3_Missense_Mutation_p.S181N	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	181										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		GTTGGGATTGCTGGGATGGAA	0.393													False	0	False	14:64066119	0	T	64066119	C	T	64066119	3	4	88	1	0	0	0	0	1	0	0	0	17420	797	28	2	625	2	WDR89	14	64066119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59805	64066119	43283421	14225	21937											
SGPP1	81537	broad.mit.edu	37	chr14	64152848	64152848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agataccaataaagaaaaatAtgtaaggaacaaaaaatgtg	7	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64152848A>G	ENST00000247225.6	-	3	1395	c.1301T>C	c.(1300-1302)aTa>aCa	p.I434T		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	434						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AAAGAAAAATATGTAAGGAAC	0.343													False	0	False	14:64152848	0	G	64152848	A	G	64152848	3	3	88	1	0	0	0	0	1	0	0	0	14300	449	16	4	28	4	SGPP1	14	64152848	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	86729	64152848	43196692	14226	21938											
SYNE2	23224	broad.mit.edu	37	chr14	64434512	64434512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgggatctggatgagcTggacaaggatcatttacagt	12	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64434512T>C	ENST00000358025.3	+	11	1306	c.1076T>C	c.(1075-1077)cTg>cCg	p.L359P	SYNE2_ENST00000554584.1_Missense_Mutation_p.L359P|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.L359P	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	359					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGGATGAGCTGGACAAGGAT	0.428													False	0	False	14:64434512	0	C	64434512	T	C	64434512	3	2	88	1	0	0	0	0	1	0	0	0	15528	1580	55	4	1114	4	SYNE2	14	64434512	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	281664	64434512	42915028	14227	21939											
SYNE2	23224	broad.mit.edu	37	chr14	64489508	64489508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactggttcagcaacattaAagtgaaccttaaggagtgtt	10	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64489508A>G	ENST00000358025.3	+	38	5794	c.5564A>G	c.(5563-5565)aAa>aGa	p.K1855R	SYNE2_ENST00000554584.1_Missense_Mutation_p.K1855R|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.K1855R	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1855					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCAACATTAAAGTGAACCTT	0.318													False	0	True	14:64489508	0	G	64489508	A	G	64489508	3	3	88	1	0	0	0	0	1	0	0	0	15528	14	1	4	5710	4	SYNE2	14	64489508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	54996	64489508	42860032	14228	21940											
SYNE2	23224	broad.mit.edu	37	chr14	64496734	64496734	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagtttttctgataagcCtgtggatcaaatagcggttg	11	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64496734C>A	ENST00000358025.3	+	44	7066	c.6836C>A	c.(6835-6837)cCt>cAt	p.P2279H	SYNE2_ENST00000554584.1_Missense_Mutation_p.P2279H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.P2279H	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2279					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTGATAAGCCTGTGGATCAA	0.378													False	0	False	14:64496734	0	A	64496734	C	A	64496734	3	1	88	1	0	0	0	0	1	0	0	0	15528	681	24	3	7006	3	SYNE2	14	64496734	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7226	64496734	42852806	14229	21941											
SYNE2	23224	broad.mit.edu	37	chr14	64518405	64518405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaaccacgtgactgacatgGataagaaattgttggaaagc	10	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64518405G>A	ENST00000358025.3	+	48	8004	c.7774G>A	c.(7774-7776)Gat>Aat	p.D2592N	SYNE2_ENST00000554584.1_Missense_Mutation_p.D2625N|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.D2592N	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2592					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACTGACATGGATAAGAAATT	0.348													False	0	False	14:64518405	0	A	64518405	G	A	64518405	3	1	88	1	0	0	0	0	1	0	0	0	15528	1174	41	2	7960	2	SYNE2	14	64518405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21671	64518405	42831135	14230	21942											
SYNE2	23224	broad.mit.edu	37	chr14	64518467	64518467	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttgggaacaagtggaacaGcagattcaaaagaagtattc	12	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64518467G>T	ENST00000358025.3	+	48	8066	c.7836G>T	c.(7834-7836)caG>caT	p.Q2612H	SYNE2_ENST00000554584.1_Missense_Mutation_p.Q2645H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.Q2612H	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2612					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGTGGAACAGCAGATTCAAA	0.398													False	0	False	14:64518467	0	T	64518467	G	T	64518467	3	4	88	1	0	0	0	0	1	0	0	0	15528	962	34	3	8022	3	SYNE2	14	64518467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	64518467	42831073	14231	21943											
SYNE2	23224	broad.mit.edu	37	chr14	64519119	64519119	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcaaagatcacagcaattaGaatttaagttggaagaaaga	8	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64519119G>T	ENST00000358025.3	+	48	8718	c.8488G>T	c.(8488-8490)Gaa>Taa	p.E2830*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E2863*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.E2830*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2830					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAGCAATTAGAATTTAAGTT	0.343													False	0	False	14:64519119	0	T	64519119	G	T	64519119	4	4	88	1	0	0	0	0	0	1	0	0	15528	943	33	3	8674	3	SYNE2	14	64519119	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	652	64519119	42830421	14232	21944											
SYNE2	23224	broad.mit.edu	37	chr14	64520359	64520359	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagatgcagcttaacacaaGcattgatttgcgcacagtaa	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64520359G>T	ENST00000358025.3	+	48	9958	c.9728G>T	c.(9727-9729)aGc>aTc	p.S3243I	SYNE2_ENST00000554584.1_Missense_Mutation_p.S3276I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.S3243I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3243					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTAACACAAGCATTGATTTG	0.453													False	0	False	14:64520359	0	T	64520359	G	T	64520359	3	4	88	1	0	0	0	0	1	0	0	0	15528	971	34	3	9914	3	SYNE2	14	64520359	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1240	64520359	42829181	14233	21945											
SYNE2	23224	broad.mit.edu	37	chr14	64532244	64532244	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggtgcacagaaaatgatgGcatatgtttgctcaagattg	11	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532244G>T	ENST00000358025.3	+	51	10537	c.10307G>T	c.(10306-10308)gGc>gTc	p.G3436V	SYNE2_ENST00000554584.1_Missense_Mutation_p.G3469V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.G3436V|SYNE2_ENST00000555002.1_Missense_Mutation_p.G70V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3436					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAAATGATGGCATATGTTTG	0.443													False	0	False	14:64532244	0	T	64532244	G	T	64532244	3	4	88	1	0	0	0	0	1	0	0	0	15528	1203	42	3	10505	3	SYNE2	14	64532244	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11885	64532244	42817296	14234	21946											
SYNE2	23224	broad.mit.edu	37	chr14	64532268	64532268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtttgctcaagattgtgtCggctctgtgggagaaatggc	14	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532268C>T	ENST00000358025.3	+	51	10561	c.10331C>T	c.(10330-10332)tCg>tTg	p.S3444L	SYNE2_ENST00000554584.1_Missense_Mutation_p.S3477L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.S3444L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S78L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3444					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.S3444L(1)|p.S3444>?(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGATTGTGTCGGCTCTGTGG	0.433													False	0	False	14:64532268	0	T	64532268	C	T	64532268	3	4	88	1	0	0	0	0	1	0	0	0	15528	893	31	1	10529	1	SYNE2	14	64532268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24	64532268	42817272	14235	21947											
SYNE2	23224	broad.mit.edu	37	chr14	64532312	64532312	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtttgctggaagctgctaaaGagtgggagatgtggtgcgaa	17	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532312G>T	ENST00000358025.3	+	51	10605	c.10375G>T	c.(10375-10377)Gag>Tag	p.E3459*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E3492*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.E3459*|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.E93*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3459					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCTGCTAAAGAGTGGGAGAT	0.433													False	0	True	14:64532312	0	T	64532312	G	T	64532312	4	4	88	1	0	0	0	0	0	1	0	0	15528	943	33	3	10573	3	SYNE2	14	64532312	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	64532312	42817228	14236	21948											
SYNE2	23224	broad.mit.edu	37	chr14	64542662	64542662	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactctcttaatgcttttaGgagcttcaaagcatccttaa	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64542662G>T	ENST00000357395.3	+	54	11096		c.e54-1		SYNE2_ENST00000554584.1_Splice_Site|SYNE2_ENST00000394768.2_5'UTR|SYNE2_ENST00000344113.4_Splice_Site|SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATGCTTTTAGGAGCTTCAAA	0.378													False	0	False	14:64542662	0	T	64542662	G	T	64542662	5	4	88	1	0	0	0	0	0	0	1	0	15528	1014	35	3	11076	3	SYNE2	14	64542662	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10350	64542662	42806878	14237	21949											
SYNE2	23224	broad.mit.edu	37	chr14	64604534	64604534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaacattggtggaaaacaCgcccggctttaccaaactct	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64604534C>T	ENST00000357395.3	+	80	14975	c.3831C>T	c.(3829-3831)caC>caT	p.H1277H	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.H4809H|SYNE2_ENST00000394768.2_Silent_p.H1277H|SYNE2_ENST00000344113.4_Silent_p.H4892H|SYNE2_ENST00000358025.3_Silent_p.H4892H|SYNE2_ENST00000555002.1_Silent_p.H1526H			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4892					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.H4892H(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTGGAAAACACGCCCGGCTTT	0.403													False	0	False	14:64604534	0	T	64604534	C	T	64604534	2	4	88	1	0	0	0	0	0	0	0	1	15528	535	19	1		1	SYNE2	14	64604534	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61872	64604534	42745006	14238	21950											
SYNE2	23224	broad.mit.edu	37	chr14	64625366	64625366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcagctcaaaacctccatGcagtcagttttacaggagtg	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64625366G>A	ENST00000357395.3	+	87	16115	c.4971G>A	c.(4969-4971)atG>atA	p.M1657I	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.M5189I|SYNE2_ENST00000394768.2_Missense_Mutation_p.M1657I|SYNE2_ENST00000344113.4_Missense_Mutation_p.M5272I|SYNE2_ENST00000358025.3_Missense_Mutation_p.M5272I|SYNE2_ENST00000555002.1_Missense_Mutation_p.M1906I			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5272					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACCTCCATGCAGTCAGTTT	0.408													False	0	True	14:64625366	0	A	64625366	G	A	64625366	3	1	88	1	0	0	0	0	1	0	0	0	15528	1319	46	2	16154	2	SYNE2	14	64625366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20832	64625366	42724174	14239	21951											
SYNE2	23224	broad.mit.edu	37	chr14	64637136	64637136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtgaagggccaggagCgcttcagcctctaccaaacc	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64637136C>T	ENST00000357395.3	+	95	17490	c.6346C>T	c.(6346-6348)Cgc>Tgc	p.R2116C	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R2116C|SYNE2_ENST00000344113.4_Missense_Mutation_p.R5731C|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5731C|SYNE2_ENST00000555002.1_Missense_Mutation_p.R2365C			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5731					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGCCAGGAGCGCTTCAGCCT	0.512													False	0	False	14:64637136	0	T	64637136	C	T	64637136	3	4	88	1	0	0	0	0	1	0	0	0	15528	768	27	1	17561	1	SYNE2	14	64637136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11770	64637136	42712404	14240	21952											
SYNE2	23224	broad.mit.edu	37	chr14	64679654	64679654	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggatgagctggaggaactCcaccgctactgccaggaggt	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64679654C>T	ENST00000357395.3	+	106	19286	c.8142C>T	c.(8140-8142)ctC>ctT	p.L2714L	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Silent_p.L207L|SYNE2_ENST00000554584.1_Silent_p.L6288L|SYNE2_ENST00000394768.2_Silent_p.L2714L|SYNE2_ENST00000554805.1_Silent_p.L112L|SYNE2_ENST00000344113.4_Silent_p.L6329L|SYNE2_ENST00000358025.3_Silent_p.L6329L|SYNE2_ENST00000555002.1_Silent_p.L2963L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6329					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGAGGAACTCCACCGCTACT	0.572													False	0	False	14:64679654	0	T	64679654	C	T	64679654	2	4	88	1	0	0	0	0	0	0	0	1	15528	842	30	2		2	SYNE2	14	64679654	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42518	64679654	42669886	14241	21953											
SYNE2	23224	broad.mit.edu	37	chr14	64691244	64691244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagcctcctgcaacatcCgtgccagctccccgagcaaa	8	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64691244C>T	ENST00000357395.3	+	114	20678	c.9534C>T	c.(9532-9534)tcC>tcT	p.S3178S	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Silent_p.S671S|SYNE2_ENST00000554584.1_Silent_p.S6709S|SYNE2_ENST00000394768.2_Silent_p.S3178S|SYNE2_ENST00000554805.1_Silent_p.S576S|SYNE2_ENST00000441438.2_Silent_p.S338S|SYNE2_ENST00000344113.4_Silent_p.S6793S|SYNE2_ENST00000358025.3_Silent_p.S6816S|SYNE2_ENST00000458046.2_Silent_p.S464S|SYNE2_ENST00000555002.1_Silent_p.S3450S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6793					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGCAACATCCGTGCCAGCTC	0.527													False	0	False	14:64691244	0	T	64691244	C	T	64691244	2	4	88	1	0	0	0	0	0	0	0	1	15528	639	23	1		1	SYNE2	14	64691244	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11590	64691244	42658296	14242	21954											
SYNE2	23224	broad.mit.edu	37	chr14	64692087	64692087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctctcaagggtggtccGggcagccctacccctgcagc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64692087G>A	ENST00000357395.3	+	116	20800	c.9656G>A	c.(9655-9657)cGg>cAg	p.R3219Q	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Missense_Mutation_p.R712Q|SYNE2_ENST00000554584.1_Silent_p.P6754P|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3219Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R617Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.R378Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.R6834Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6856Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.R505Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3490Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6834					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGGTGGTCCGGGCAGCCCTA	0.647													False	0	True	14:64692087	0	A	64692087	G	A	64692087	3	1	88	1	0	0	0	0	1	0	0	0	15528	1116	39	1	21070	1	SYNE2	14	64692087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	843	64692087	42657453	14243	21955											
ESR2	0	broad.mit.edu	37	chr14	64727439	64727439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgtctccgcacaaggCggtacccacatctctctctc	6	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64727439C>T	ENST00000557772.1	-	4	679	c.680G>A	c.(679-681)cGc>cAc	p.R227H	ESR2_ENST00000542956.1_Missense_Mutation_p.R227H|ESR2_ENST00000358599.5_Missense_Mutation_p.R227H|ESR2_ENST00000353772.3_Missense_Mutation_p.R227H|ESR2_ENST00000553796.1_Missense_Mutation_p.R227H|ESR2_ENST00000555278.1_Missense_Mutation_p.R227H|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Missense_Mutation_p.R227H|ESR2_ENST00000341099.4_Missense_Mutation_p.R227H|ESR2_ENST00000357782.2_Missense_Mutation_p.R227H|ESR2_ENST00000554572.1_Missense_Mutation_p.R227H	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	227	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.R227L(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCGCACAAGGCGGTACCCACA	0.587													False	0	False	14:64727439	0	T	64727439	C	T	64727439	3	4	88	1	0	0	0	0	1	0	0	0	5289	768	27	1	1018	1	ESR2	14	64727439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35352	64727439	42622101	14244	21956											
MTHFD1	4522	broad.mit.edu	37	chr14	64882355	64882356	+	Splice_Site	INS	-	-	TG													tatttccatcacttttttaaINSgattgactagcatcaatgct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64882355_64882356insTG	ENST00000545908.1	+	6	774		c.e6-1		MTHFD1_ENST00000216605.7_Splice_Site|MTHFD1_ENST00000555709.1_Splice_Site|MTHFD1_ENST00000555252.1_Splice_Site			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase						folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CActtttttaagattgactagc	0.351													False	0	False	14:64882355	0	TG	64882356	-	TG	64882355	8	5	88	1	0	1	1	0	0	0	1	0	9994	86	3	0	398	0	MTHFD1	14	64882355	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	154916	64882355	42467185	14245	21957	237	2									
MTHFD1	4522	broad.mit.edu	37	chr14	64882357	64882358	+	Splice_Site	INS	-	-	ATTCTCTGAATCTAAAGG													tttccatcacttttttaagaINSttgactagcatcaatgctgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64882357_64882358insATTCTCTGAATCTAAAGG	ENST00000545908.1	+	6	775_776	c.546_547insATTCTCTGAATCTAAAGG	c.(547-549)ttg>ATTCTCTGAATCTAAAGGttg	p.182_183insIL*I*R	MTHFD1_ENST00000216605.7_Splice_Site_p.182_183insIL*I*R|MTHFD1_ENST00000555709.1_Splice_Site_p.126_127insIL*I*R|MTHFD1_ENST00000555252.1_Splice_Site_p.106_107insIL*I*R			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	126	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	cttttttaagattgactagcat	0.361													False	0	False	14:64882357	0	ATTCTCTGAATCTAAAGG	64882358	-	ATTCTCTGAATCTAAAGG	64882357	8	5	88	1	0	1	1	0	0	0	1	0	9994	347	12	0	400	0	MTHFD1	14	64882357	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	2	64882357	42467183	14246	21958	237	2									
ZBTB1	22890	broad.mit.edu	37	chr14	64988779	64988779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttacaattaggtaattttcCtgagccactatttgatgtat	6	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64988779C>T	ENST00000358738.3	+	2	948	c.557C>T	c.(556-558)cCt>cTt	p.P186L	ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186L|ZBTB1_ENST00000554015.1_Missense_Mutation_p.P186L|RP11-973N13.4_ENST00000554918.1_RNA	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GGTAATTTTCCTGAGCCACTA	0.413													False	0	False	14:64988779	0	T	64988779	C	T	64988779	3	4	88	1	0	0	0	0	1	0	0	0	17605	681	24	2	559	2	ZBTB1	14	64988779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106422	64988779	42360761	14247	21959											
HSPA2	3306	broad.mit.edu	37	chr14	65007778	65007778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaacaccatcttcgacGccaagaggctgattggacgg	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65007778G>A	ENST00000247207.6	+	1	593	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	HSPA2_ENST00000394709.1_Missense_Mutation_p.A71T|HSPA2_ENST00000554883.1_Intron	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	71					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CATCTTCGACGCCAAGAGGCT	0.612													False	0	False	14:65007778	0	A	65007778	G	A	65007778	3	1	88	1	0	0	0	0	1	0	0	0	7460	1087	38	1	213	1	HSPA2	14	65007778	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18999	65007778	42341762	14248	21960											
HSPA2	3306	broad.mit.edu	37	chr14	65008035	65008035	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttcaacgactcgcagcgCcaggccaccaaggacgcagg	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65008035C>T	ENST00000247207.6	+	1	850	c.468C>T	c.(466-468)cgC>cgT	p.R156R	HSPA2_ENST00000394709.1_Silent_p.R156R|HSPA2_ENST00000554883.1_Intron	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	156					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACTCGCAGCGCCAGGCCACCA	0.637													False	0	False	14:65008035	0	T	65008035	C	T	65008035	2	4	88	1	0	0	0	0	0	0	0	1	7460	726	26	2		2	HSPA2	14	65008035	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257	65008035	42341505	14249	21961											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208098	65208098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcggagcagcgtggcacaGgaggacagcaagtccagtgg	18	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65208098G>T	ENST00000247226.7	+	14	2003	c.1695G>T	c.(1693-1695)caG>caT	p.Q565H	PLEKHG3_ENST00000471182.2_Missense_Mutation_p.Q154H|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.Q621H|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.Q126H	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	621					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCGTGGCACAGGAGGACAGCA	0.667													False	0	False	14:65208098	0	T	65208098	G	T	65208098	3	4	88	1	0	0	0	0	1	0	0	0	12139	991	35	3	1745	3	PLEKHG3	14	65208098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200063	65208098	42141442	14250	21962											
PLEKHG3	26030	broad.mit.edu	37	chr14	65209988	65209988	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggccccgcggcccacccgTcaacaggagccactcggtgc	12	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65209988T>C	ENST00000247226.7	+	15	3367	c.3059T>C	c.(3058-3060)gTc>gCc	p.V1020A	PLEKHG3_ENST00000471182.2_Missense_Mutation_p.V609A|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.V1076A|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.V581A	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1076					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ggcccACCCGTCAACAGGAGC	0.716													False	0	False	14:65209988	0	C	65209988	T	C	65209988	3	2	88	1	0	0	0	0	1	0	0	0	12139	1667	58	4	3113	4	PLEKHG3	14	65209988	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1890	65209988	42139552	14251	21963											
SPTB	6710	broad.mit.edu	37	chr14	65241151	65241151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacagcaggccctgggccCggctggccagctgcttgatg	15	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65241151C>T	ENST00000389722.3	-	23	4990	c.4937G>A	c.(4936-4938)cGg>cAg	p.R1646Q	SPTB_ENST00000389721.5_Missense_Mutation_p.R1646Q|SPTB_ENST00000556626.1_Missense_Mutation_p.R1646Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1646Q|SPTB_ENST00000389720.3_Missense_Mutation_p.R1646Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1646					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCCTGGGCCCGGCTGGCCAG	0.662													False	0	True	14:65241151	0	T	65241151	C	T	65241151	3	4	88	1	0	0	0	0	1	0	0	0	15200	652	23	1	2170	1	SPTB	14	65241151	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31163	65241151	42108389	14252	21964											
SPTB	6710	broad.mit.edu	37	chr14	65249188	65249188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtggtggcctgcagctcGtcccagagccggtgcagggc	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65249188G>A	ENST00000389722.3	-	19	4139	c.4086C>T	c.(4084-4086)gaC>gaT	p.D1362D	SPTB_ENST00000389721.5_Silent_p.D1362D|SPTB_ENST00000556626.1_Silent_p.D1362D|SPTB_ENST00000542895.1_Silent_p.D1362D|SPTB_ENST00000389720.3_Silent_p.D1362D	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1362					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGCAGCTCGTCCCAGAGCC	0.597													False	0	False	14:65249188	0	A	65249188	G	A	65249188	2	1	88	1	0	0	0	0	0	0	0	1	15200	1136	40	1		1	SPTB	14	65249188	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8037	65249188	42100352	14253	21965											
SPTB	6710	broad.mit.edu	37	chr14	65253315	65253315	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttggatcactttctccccaGactccttaacacgctggtag	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65253315G>A	ENST00000389722.3	-	15	3421	c.3368C>T	c.(3367-3369)tCt>tTt	p.S1123F	SPTB_ENST00000389721.5_Missense_Mutation_p.S1123F|SPTB_ENST00000556626.1_Missense_Mutation_p.S1123F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1123F|SPTB_ENST00000389720.3_Missense_Mutation_p.S1123F	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1123					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTTCTCCCCAGACTCCTTAAC	0.597													False	0	False	14:65253315	0	A	65253315	G	A	65253315	3	1	88	1	0	0	0	0	1	0	0	0	15200	942	33	2	3771	2	SPTB	14	65253315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4127	65253315	42096225	14254	21966											
SPTB	6710	broad.mit.edu	37	chr14	65253542	65253542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggccctgcagggattgCtgcaggccctgccacagctc	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65253542C>T	ENST00000389722.3	-	15	3194	c.3141G>A	c.(3139-3141)caG>caA	p.Q1047Q	SPTB_ENST00000389721.5_Silent_p.Q1047Q|SPTB_ENST00000556626.1_Silent_p.Q1047Q|SPTB_ENST00000542895.1_Silent_p.Q1047Q|SPTB_ENST00000389720.3_Silent_p.Q1047Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1047					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCAGGGATTGCTGCAGGCCCT	0.612													False	0	False	14:65253542	0	T	65253542	C	T	65253542	2	4	88	1	0	0	0	0	0	0	0	1	15200	796	28	2		2	SPTB	14	65253542	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	65253542	42095998	14255	21967											
SPTB	6710	broad.mit.edu	37	chr14	65260266	65260266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcccaaactgcttgcgCgcaaccatgccatgagcctc	11	15	0	1	rs142550439	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65260266C>T	ENST00000389722.3	-	13	2168	c.2115G>A	c.(2113-2115)gcG>gcA	p.A705A	SPTB_ENST00000389721.5_Silent_p.A705A|SPTB_ENST00000556626.1_Silent_p.A705A|SPTB_ENST00000542895.1_Silent_p.A705A|SPTB_ENST00000389720.3_Silent_p.A705A	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	705					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTGCTTGCGCGCAACCATGC	0.592													False	0	True	14:65260266	0	T	65260266	C	T	65260266	2	4	88	1	0	0	0	0	0	0	0	1	15200	755	27	1		1	SPTB	14	65260266	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6724	65260266	42089274	14256	21968											
SPTB	6710	broad.mit.edu	37	chr14	65263370	65263370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgctctagcttctcctgccGaatgagctcatttctcaggg	9	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65263370G>A	ENST00000389722.3	-	10	1299	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	SPTB_ENST00000389721.5_Missense_Mutation_p.R416W|SPTB_ENST00000556626.1_Missense_Mutation_p.R416W|SPTB_ENST00000542895.1_Missense_Mutation_p.R416W|SPTB_ENST00000389720.3_Missense_Mutation_p.R416W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	416					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCTCCTGCCGAATGAGCTCA	0.582													False	0	False	14:65263370	0	A	65263370	G	A	65263370	3	1	88	1	0	0	0	0	1	0	0	0	15200	1057	37	1	5913	1	SPTB	14	65263370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3104	65263370	42086170	14257	21969											
GPX2	2877	broad.mit.edu	37	chr14	65409265	65409265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaagccaaggaccaccagGcgcctgggaaagcggcattg	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65409265G>A	ENST00000389614.5	-	1	266	c.180C>T	c.(178-180)cgC>cgT	p.R60R	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	60					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GGACCACCAGGCGCCTGGGAA	0.587													False	0	False	14:65409265	0	A	65409265	G	A	65409265	2	1	88	1	0	0	0	0	0	0	0	1	6787	1190	42	2		2	GPX2	14	65409265	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145895	65409265	41940275	14258	21970											
RAB15	376267	broad.mit.edu	37	chr14	65417744	65417744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccctcgccttgccttcccCggtgaggcaccctctccaca	9	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65417744C>T	ENST00000267512.5	-	4	452	c.372G>A	c.(370-372)ccG>ccA	p.P124P	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron|RAB15_ENST00000533601.2_Intron|RAB15_ENST00000426039.3_Intron|RAB15_ENST00000436278.2_Silent_p.P78P	NM_198686.2	NP_941959.1	P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TTGCCTTCCCCGGTGAGGCAC	0.597													False	0	True	14:65417744	0	T	65417744	C	T	65417744	2	4	88	1	0	0	0	0	0	0	0	1	12980	639	23	1		1	RAB15	14	65417744	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8479	65417744	41931796	14259	21971											
GPHN	10243	broad.mit.edu	37	chr14	67610094	67610094	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccagcccagatgacttactCaatgccttgaatgagggtat	9	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:67610094C>T	ENST00000478722.1	+	18	2885	c.1764C>T	c.(1762-1764)ctC>ctT	p.L588L	GPHN_ENST00000543237.1_Silent_p.L601L|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Silent_p.L524L|GPHN_ENST00000315266.5_Silent_p.L555L	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	555	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATGACTTACTCAATGCCTTGA	0.393			T	MLL	AL								False	0	False	14:67610094	0	T	67610094	C	T	67610094	2	4	88	1	0	0	0	0	0	0	0	1	6656	813	29	2		2	GPHN	14	67610094	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2192350	67610094	39739446	14260	21972											
TMEM229B	161145	broad.mit.edu	37	chr14	67940506	67940506	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaagagggcccacacgctCgtgaccccagggaacttcca	11	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:67940506C>T	ENST00000357461.2	-	3	544	c.135G>A	c.(133-135)acG>acA	p.T45T	TMEM229B_ENST00000557006.1_Silent_p.T45T	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	45						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCCACACGCTCGTGACCCCAG	0.627													False	0	False	14:67940506	0	T	67940506	C	T	67940506	2	4	88	1	0	0	0	0	0	0	0	1	16230	871	31	1		1	TMEM229B	14	67940506	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	330412	67940506	39409034	14261	21973											
ARG2	384	broad.mit.edu	37	chr14	68113681	68113681	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccagtatttttccatgagaGatattgatcgacttggtatc	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68113681G>T	ENST00000261783.3	+	6	841	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	221					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	p.D221Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TTCCATGAGAGATATTGATCG	0.353													False	0	True	14:68113681	0	T	68113681	G	T	68113681	3	4	88	1	0	0	0	0	1	0	0	0	860	942	33	3	683	3	ARG2	14	68113681	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173175	68113681	39235859	14262	21974											
RDH11	51109	broad.mit.edu	37	chr14	68157882	68157882	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggttgactcctatgtgcatCtcaaagccatctgctgtctt	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68157882C>A	ENST00000381346.4	-	4	539	c.429G>T	c.(427-429)gaG>gaT	p.E143D	RDH11_ENST00000428130.2_Missense_Mutation_p.E143D|RDH11_ENST00000553384.1_Missense_Mutation_p.E130D	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	143					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CTATGTGCATCTCAAAGCCAT	0.468													False	0	False	14:68157882	0	A	68157882	C	A	68157882	3	1	88	1	0	0	0	0	1	0	0	0	13269	912	32	3	543	3	RDH11	14	68157882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44201	68157882	39191658	14263	21975											
RDH11	51109	broad.mit.edu	37	chr14	68159251	68159251	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttccctgtcgtggtctggaTctctttggccaccaattccc	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68159251T>G	ENST00000381346.4	-	3	363	c.253A>C	c.(253-255)Atc>Ctc	p.I85L	RDH11_ENST00000428130.2_Missense_Mutation_p.I85L|RDH11_ENST00000553384.1_Missense_Mutation_p.I72L	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	85					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GTGGTCTGGATCTCTTTGGCC	0.483													False	0	False	14:68159251	0	G	68159251	T	G	68159251	3	3	88	1	0	0	0	0	1	0	0	0	13269	1435	50	4	723	4	RDH11	14	68159251	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1369	68159251	39190289	14264	21976											
ZFYVE26	23503	broad.mit.edu	37	chr14	68229498	68229498	+	Missense_Mutation	SNP	G	G	T													gcacgtggcgataggcagcaGcaactaaaatattcagcaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68229498G>T	ENST00000347230.4	-	33	6188	c.6050C>A	c.(6049-6051)gCt>gAt	p.A2017D	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A2017D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2017					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATAGGCAGCAGCAACTAAAAT	0.498													False	0	True	14:68229498	0	T	68229498	G	T	68229498	3	4	88	1	0	0	0	0	1	0	0	0	17751	971	34	3	1609	3	ZFYVE26	14	68229498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70247	68229498	39120042	14265	21977	238	2									
ZFYVE26	23503	broad.mit.edu	37	chr14	68229501	68229501	+	Missense_Mutation	SNP	A	A	G													cgtggcgataggcagcagcaActaaaatattcagcacatct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68229501A>G	ENST00000347230.4	-	33	6185	c.6047T>C	c.(6046-6048)gTt>gCt	p.V2016A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V2016A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2016					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGCAGCAGCAACTAAAATATT	0.488													False	0	True	14:68229501	0	G	68229501	A	G	68229501	3	3	88	1	0	0	0	0	1	0	0	0	17751	43	2	4	1612	4	ZFYVE26	14	68229501	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3	68229501	39120039	14266	21978	238	2									
ZFYVE26	23503	broad.mit.edu	37	chr14	68271970	68271970	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accactccaggacctccaggTgagcccacaacccatcacag	7	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68271970T>C	ENST00000347230.4	-	8	1373	c.1235A>G	c.(1234-1236)cAc>cGc	p.H412R	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H412R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	412					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GACCTCCAGGTGAGCCCACAA	0.602													False	0	False	14:68271970	0	C	68271970	T	C	68271970	3	2	88	1	0	0	0	0	1	0	0	0	17751	1696	59	4	6524	4	ZFYVE26	14	68271970	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42469	68271970	39077570	14267	21979											
ACTN1	87	broad.mit.edu	37	chr14	69358972	69358972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccggttctccagccacGggattgtgcggcggatccac	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69358972G>A	ENST00000193403.6	-	10	1267	c.884C>T	c.(883-885)cCg>cTg	p.P295L	ACTN1_ENST00000376839.3_Missense_Mutation_p.P230L|ACTN1_ENST00000438964.2_Missense_Mutation_p.P295L|ACTN1_ENST00000394419.4_Missense_Mutation_p.P295L|ACTN1_ENST00000538545.2_Missense_Mutation_p.P295L	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	295	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTCCAGCCACGGGATTGTGCG	0.657													False	0	True	14:69358972	0	A	69358972	G	A	69358972	3	1	88	1	0	0	0	0	1	0	0	0	204	1116	39	1	1912	1	ACTN1	14	69358972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1087002	69358972	37990568	14268	21980											
DCAF5	8816	broad.mit.edu	37	chr14	69521423	69521423	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agccacttgtaagctttataAatttttcgctcaactgattc	5	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69521423A>C	ENST00000341516.5	-	9	2127	c.1980T>G	c.(1978-1980)atT>atG	p.I660M	DCAF5_ENST00000557386.1_Missense_Mutation_p.I659M|DCAF5_ENST00000554215.1_Missense_Mutation_p.I578M|DCAF5_ENST00000556847.1_Missense_Mutation_p.I578M	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	660						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AAGCTTTATAAATTTTTCGCT	0.498													False	0	True	14:69521423	0	C	69521423	A	C	69521423	3	2	88	1	0	0	0	0	1	0	0	0	4298	10	1	4	852	4	DCAF5	14	69521423	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	162451	69521423	37828117	14269	21981											
EXD2	0	broad.mit.edu	37	chr14	69695578	69695578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtcacttctacaaatgGcctccccaagtggcctgtgt	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69695578G>A	ENST00000409014.1	+	5	661	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	EXD2_ENST00000409242.1_Missense_Mutation_p.A2T|EXD2_ENST00000449989.1_Missense_Mutation_p.A2T|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000312994.5_Missense_Mutation_p.A127T|EXD2_ENST00000409949.1_Missense_Mutation_p.A2T|EXD2_ENST00000409675.1_Missense_Mutation_p.A2T|EXD2_ENST00000409018.3_Missense_Mutation_p.A127T	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	2					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TCTACAAATGGCCTCCCCAAG	0.498													False	0	False	14:69695578	0	A	69695578	G	A	69695578	3	1	88	1	0	0	0	0	1	0	0	0	5330	1203	42	2	6	2	EXD2	14	69695578	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174155	69695578	37653962	14270	21982											
SLC39A9	55334	broad.mit.edu	37	chr14	69922559	69922559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcaccagttatgtccatGgtgacatacttaggactgag	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69922559G>T	ENST00000031146.4	+	5	1149	c.471G>T	c.(469-471)atG>atT	p.M157I	SLC39A9_ENST00000556605.1_Missense_Mutation_p.M223I|SLC39A9_ENST00000336643.5_Missense_Mutation_p.M223I|SLC39A9_ENST00000557046.1_Missense_Mutation_p.M200I|SLC39A9_ENST00000555245.1_3'UTR			Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	223					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TTATGTCCATGGTGACATACT	0.413													False	0	False	14:69922559	0	T	69922559	G	T	69922559	3	4	88	1	0	0	0	0	1	0	0	0	14705	1348	47	3	691	3	SLC39A9	14	69922559	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226981	69922559	37426981	14271	21983											
SLC10A1	6554	broad.mit.edu	37	chr14	70252828	70252828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttaccttgatgacatagcGcatgtattgtggccgtttgg	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70252828G>A	ENST00000216540.4	-	2	686	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	185					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		ATGACATAGCGCATGTATTGT	0.403													False	0	False	14:70252828	0	A	70252828	G	A	70252828	3	1	88	1	0	0	0	0	1	0	0	0	14454	1087	38	1	512	1	SLC10A1	14	70252828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330269	70252828	37096712	14272	21984											
SLC10A1	6554	broad.mit.edu	37	chr14	70252875	70252875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacgatccctatggtgcaaGgaatgagaaccaggaccagt	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70252875G>T	ENST00000216540.4	-	2	639	c.506C>A	c.(505-507)cCt>cAt	p.P169H		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	169					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		TATGGTGCAAGGAATGAGAAC	0.493													False	0	False	14:70252875	0	T	70252875	G	T	70252875	3	4	88	1	0	0	0	0	1	0	0	0	14454	1000	35	3	559	3	SLC10A1	14	70252875	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	70252875	37096665	14273	21985											
SMOC1	64093	broad.mit.edu	37	chr14	70346414	70346414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgctgcccgcgcgctgcGcccgcctgctcacgccccac	10	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70346414G>A	ENST00000381280.4	+	1	272	c.19G>A	c.(19-21)Gcc>Acc	p.A7T	SMOC1_ENST00000361956.3_Missense_Mutation_p.A7T|SMOC1_ENST00000555917.1_Intron	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	7					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGCGCGCTGCGCCCGCCTGCT	0.736													False	0	True	14:70346414	0	A	70346414	G	A	70346414	3	1	88	1	0	0	0	0	1	0	0	0	14881	1087	38	1	21	1	SMOC1	14	70346414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93539	70346414	37003126	14274	21986											
SLC8A3	6547	broad.mit.edu	37	chr14	70633807	70633807	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccctctgtgaactcatagtCagcccctgcattggcagaac	9	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70633807C>T	ENST00000381269.2	-	2	2086	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	SLC8A3_ENST00000534137.1_Missense_Mutation_p.D445N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D445N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D445N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D445N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	445	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AACTCATAGTCAGCCCCTGCA	0.512													False	0	False	14:70633807	0	T	70633807	C	T	70633807	3	4	88	1	0	0	0	0	1	0	0	0	14788	826	29	2	1589	2	SLC8A3	14	70633807	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	287393	70633807	36715733	14275	21987											
ADAM21	8747	broad.mit.edu	37	chr14	70924986	70924986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacttacataattttgattgGaattgaaatttggaatcaag	7	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70924986G>A	ENST00000603540.1	+	2	1028	c.770G>A	c.(769-771)gGa>gAa	p.G257E	ADAM21_ENST00000267499.3_Missense_Mutation_p.G257E|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	257	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATTTTGATTGGAATTGAAATT	0.363													False	0	False	14:70924986	0	A	70924986	G	A	70924986	3	1	88	1	0	0	0	0	1	0	0	0	243	1174	41	2	772	2	ADAM21	14	70924986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291179	70924986	36424554	14276	21988											
ADAM21	8747	broad.mit.edu	37	chr14	70926319	70926319	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgactttcctgtttactgtCgggcttcttatgtatctacg	8	9	2	1	rs142273524	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70926319C>T	ENST00000603540.1	+	2	2361	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	ADAM21_ENST00000267499.3_Silent_p.V701V|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	701					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGTTTACTGTCGGGCTTCTTA	0.413													False	0	True	14:70926319	0	T	70926319	C	T	70926319	2	4	88	1	0	0	0	0	0	0	0	1	243	871	31	1		1	ADAM21	14	70926319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1333	70926319	36423221	14277	21989											
ADAM20	8748	broad.mit.edu	37	chr14	70991330	70991330	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctctgcccctgctgaTcaccttcaaagggatcacca	7	16	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70991330T>G	ENST00000256389.3	-	2	539	c.295A>C	c.(295-297)Atc>Ctc	p.I99L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	49					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CCCCTGCTGATCACCTTCAAA	0.517													False	0	False	14:70991330	0	G	70991330	T	G	70991330	3	3	88	1	0	0	0	0	1	0	0	0	242	1435	50	4	2039	4	ADAM20	14	70991330	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	65011	70991330	36358210	14278	21990											
TTC9	23508	broad.mit.edu	37	chr14	71109141	71109141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccccccggggaacgggagCgggactcgcgcccggcctcc	16	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71109141C>T	ENST00000256367.2	+	1	638	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	99							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GGAACGGGAGCGGGACTCGCG	0.657													False	0	True	14:71109141	0	T	71109141	C	T	71109141	3	4	88	1	0	0	0	0	1	0	0	0	16799	759	27	1	297	1	TTC9	14	71109141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117811	71109141	36240399	14279	21991											
TTC9	23508	broad.mit.edu	37	chr14	71134289	71134289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcctccatagcctgcctgCtccaggctgagctggtaaac	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71134289C>A	ENST00000256367.2	+	2	758	c.415C>A	c.(415-417)Ctc>Atc	p.L139I		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	139							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		AGCCTGCCTGCTCCAGGCTGA	0.512													False	0	True	14:71134289	0	A	71134289	C	A	71134289	3	1	88	1	0	0	0	0	1	0	0	0	16799	797	28	3	421	3	TTC9	14	71134289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25148	71134289	36215251	14280	21992											
MAP3K9	4293	broad.mit.edu	37	chr14	71209278	71209278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgctgcagtgcagcccGcgtcagctcctcctcccagg	10	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71209278G>A	ENST00000554752.2	-	6	1356	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	MAP3K9_ENST00000554146.1_Missense_Mutation_p.R190W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R453W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R453W|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R147W	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	453					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGTGCAGCCCGCGTCAGCTCC	0.627													False	0	True	14:71209278	0	A	71209278	G	A	71209278	3	1	88	1	0	0	0	0	1	0	0	0	9324	1086	38	1	2031	1	MAP3K9	14	71209278	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74989	71209278	36140262	14281	21993											
MAP3K9	4293	broad.mit.edu	37	chr14	71267541	71267541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtcctccacgagcaaaCtccatgaccaagcagaggtt	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71267541C>T	ENST00000554752.2	-	2	662	c.663G>A	c.(661-663)gaG>gaA	p.E221E	MAP3K9_ENST00000381250.4_Silent_p.E221E|MAP3K9_ENST00000555993.2_Silent_p.E221E	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	221	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CACGAGCAAACTCCATGACCA	0.522													False	0	True	14:71267541	0	T	71267541	C	T	71267541	2	4	88	1	0	0	0	0	0	0	0	1	9324	564	20	2		2	MAP3K9	14	71267541	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58263	71267541	36081999	14282	21994											
MAP3K9	4293	broad.mit.edu	37	chr14	71267726	71267726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcccctatccagaaagcacGatagaccttcccaaagcccc	5	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71267726G>A	ENST00000554752.2	-	2	477	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	MAP3K9_ENST00000381250.4_Missense_Mutation_p.R160C|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R160C	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	160	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CAGAAAGCACGATAGACCTTC	0.488													False	0	False	14:71267726	0	A	71267726	G	A	71267726	3	1	88	1	0	0	0	0	1	0	0	0	9324	1058	37	1	2926	1	MAP3K9	14	71267726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185	71267726	36081814	14283	21995											
PCNX	22990	broad.mit.edu	37	chr14	71540352	71540352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgaacctggccatattcCtcacatgctttcatttaatg	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71540352C>T	ENST00000304743.2	+	27	5389	c.4943C>T	c.(4942-4944)cCt>cTt	p.P1648L	PCNX_ENST00000238570.5_Missense_Mutation_p.P1576L|PCNX_ENST00000439984.3_Missense_Mutation_p.P1537L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1648						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCCATATTCCTCACATGCTT	0.443													False	0	False	14:71540352	0	T	71540352	C	T	71540352	3	4	88	1	0	0	0	0	1	0	0	0	11659	681	24	2	5049	2	PCNX	14	71540352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	272626	71540352	35809188	14284	21996											
PCNX	22990	broad.mit.edu	37	chr14	71543085	71543085	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcatatctagggagagtttCtgtgtgatttacctcaactg	11	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71543085C>A	ENST00000304743.2	+	28	5732	c.5286C>A	c.(5284-5286)ttC>ttA	p.F1762L	PCNX_ENST00000238570.5_Missense_Mutation_p.F1690L|PCNX_ENST00000439984.3_Missense_Mutation_p.F1651L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1762						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGGAGAGTTTCTGTGTGATTT	0.418													False	0	True	14:71543085	0	A	71543085	C	A	71543085	3	1	88	1	0	0	0	0	1	0	0	0	11659	912	32	3	5396	3	PCNX	14	71543085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2733	71543085	35806455	14285	21997											
PCNX	22990	broad.mit.edu	37	chr14	71575657	71575657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctcgtgggctttcttgCgacagagggaggtcagagca	14	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71575657C>T	ENST00000304743.2	+	34	7084	c.6638C>T	c.(6637-6639)gCg>gTg	p.A2213V	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.A2141V|PCNX_ENST00000439984.3_Missense_Mutation_p.A2102V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2213						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCTTTCTTGCGACAGAGGGA	0.567													False	0	False	14:71575657	0	T	71575657	C	T	71575657	3	4	88	1	0	0	0	0	1	0	0	0	11659	768	27	1	6772	1	PCNX	14	71575657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32572	71575657	35773883	14286	21998											
SIPA1L1	26037	broad.mit.edu	37	chr14	72085567	72085567	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaaatgaaagaaaatggatCtccgtacaactaccgaataa	7	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72085567C>T	ENST00000555818.1	+	3	1940	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S531F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S531F|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S6F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	531					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAAATGGATCTCCGTACAAC	0.403													False	0	False	14:72085567	0	T	72085567	C	T	72085567	3	4	88	1	0	0	0	0	1	0	0	0	14410	913	32	2	1598	2	SIPA1L1	14	72085567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	509910	72085567	35263973	14287	21999											
SIPA1L1	26037	broad.mit.edu	37	chr14	72090900	72090900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtccagtgcctgcggttgGccttcaacacacccaaggtc	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72090900G>A	ENST00000555818.1	+	4	2113	c.1765G>A	c.(1765-1767)Gcc>Acc	p.A589T	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A589T|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A589T|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A64T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	589					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTGCGGTTGGCCTTCAACAC	0.537													False	0	False	14:72090900	0	A	72090900	G	A	72090900	3	1	88	1	0	0	0	0	1	0	0	0	14410	1203	42	2	1775	2	SIPA1L1	14	72090900	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5333	72090900	35258640	14288	22000											
SIPA1L1	26037	broad.mit.edu	37	chr14	72152161	72152161	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgaattcaagtttcccttcCgaaataataacaagtggcag	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72152161C>T	ENST00000555818.1	+	10	3535	c.3187C>T	c.(3187-3189)Cga>Tga	p.R1063*	SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.R1063*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.R1063*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.R538*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1063					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTTTCCCTTCCGAAATAATAA	0.512													False	0	False	14:72152161	0	T	72152161	C	T	72152161	4	4	88	1	0	0	0	0	0	1	0	0	14410	644	23	1	3221	1	SIPA1L1	14	72152161	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61261	72152161	35197379	14289	22001											
SIPA1L1	26037	broad.mit.edu	37	chr14	72165840	72165840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaggcagaagtccatgcccGaagggtagttatgcgtttgt	13	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72165840G>A	ENST00000555818.1	+	11	3865	c.3517G>A	c.(3517-3519)Gaa>Aaa	p.E1173K	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1173K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1173K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E648K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1173					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTCCATGCCCGAAGGGTAGTT	0.483													False	0	True	14:72165840	0	A	72165840	G	A	72165840	3	1	88	1	0	0	0	0	1	0	0	0	14410	1059	37	1	3555	1	SIPA1L1	14	72165840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13679	72165840	35183700	14290	22002											
SIPA1L1	26037	broad.mit.edu	37	chr14	72204965	72204965	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcttgttcccagcagtaaaGactcctctcccactctggct	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72204965G>T	ENST00000555818.1	+	21	5542	c.5194G>T	c.(5194-5196)Gac>Tac	p.D1732Y	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D1711Y|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D1710Y|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.D1185Y	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1732					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGCAGTAAAGACTCCTCTCC	0.423													False	0	True	14:72204965	0	T	72204965	G	T	72204965	3	4	88	1	0	0	0	0	1	0	0	0	14410	942	33	3	5272	3	SIPA1L1	14	72204965	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39125	72204965	35144575	14291	22003											
DPF3	8110	broad.mit.edu	37	chr14	73159903	73159903	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgagccccggtcggttcTtgtagcgcttgccacagact	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73159903T>G	ENST00000541685.1	-	7	635	c.623A>C	c.(622-624)aAg>aCg	p.K208T	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Missense_Mutation_p.K208T|DPF3_ENST00000546183.1_Missense_Mutation_p.K218T	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	208					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGGTCGGTTCTTGTAGCGCTT	0.547													False	0	False	14:73159903	0	G	73159903	T	G	73159903	3	3	88	1	0	0	0	0	1	0	0	0	4748	1609	56	4	462	4	DPF3	14	73159903	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	954938	73159903	34189637	14292	22004											
DCAF4	26094	broad.mit.edu	37	chr14	73412676	73412676	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtatcatcaacctgcaaagtCtgaagacccctacgctcaag	7	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73412676C>A	ENST00000553457.1	+	6	609	c.319C>A	c.(319-321)Ctg>Atg	p.L107M	DCAF4_ENST00000509153.1_Missense_Mutation_p.L146M|DCAF4_ENST00000394234.2_Missense_Mutation_p.L107M|DCAF4_ENST00000555042.1_Missense_Mutation_p.L207M|DCAF4_ENST00000353777.3_Missense_Mutation_p.L146M|DCAF4_ENST00000358377.2_Missense_Mutation_p.L207M			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	207						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCTGCAAAGTCTGAAGACCCC	0.517													False	0	False	14:73412676	0	A	73412676	C	A	73412676	3	1	88	1	0	0	0	0	1	0	0	0	4295	912	32	3	641	3	DCAF4	14	73412676	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	252773	73412676	33936864	14293	22005											
ZFYVE1	53349	broad.mit.edu	37	chr14	73460053	73460053	+	Frame_Shift_Del	DEL	T	T	-													ggatgagcttctctggcaccTctgagggatgatctatacaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73460053delT	ENST00000556143.1	-	4	1721	c.1001delA	c.(1000-1002)gagfs	p.E334fs	ZFYVE1_ENST00000553891.1_Frame_Shift_Del_p.E334fs|ZFYVE1_ENST00000318876.5_Frame_Shift_Del_p.E334fs	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	334						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CTCTGGCACCTCTGAGGGATG	0.498													False	1	False	14:73460053	0	-	73460053	T	-	73460053	7	5	88	1	0	1	0	1	0	0	0	0	17746	1551	54	0	1368	0	ZFYVE1	14	73460053	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	47377	73460053	33889487	14294	22006	239	2									
ZFYVE1	53349	broad.mit.edu	37	chr14	73460055	73460057	+	In_Frame_Del	DEL	TGA	TGA	-													atgagcttctctggcacctcTgagggatgatctatacaagc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73460055_73460057delTGA	ENST00000556143.1	-	4	1717_1719	c.997_999delTCA	c.(997-999)tcadel	p.S333del	ZFYVE1_ENST00000553891.1_In_Frame_Del_p.S333del|ZFYVE1_ENST00000318876.5_In_Frame_Del_p.S333del	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	333						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CTGGCACCTCTGAGGGATGATCT	0.493													False	1	False	14:73460055	0	-	73460057	TGA	-	73460055	7	5	88	1	0	1	0	1	0	0	0	0	17746	1567	55	0	1370	0	ZFYVE1	14	73460055	In_Frame_Del	DEL	TGA	TCGA-IB-7651-01A-11D-2154-08	2	73460055	33889485	14295	22007	239	2									
RBM25	58517	broad.mit.edu	37	chr14	73570180	73570180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtaataaggatcgcagtcGatcaaggtaaggctttacag	11	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73570180G>A	ENST00000261973.7	+	10	1433	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	RBM25_ENST00000527432.1_Missense_Mutation_p.R383Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	383	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GATCGCAGTCGATCAAGGTAA	0.463													False	0	False	14:73570180	0	A	73570180	G	A	73570180	3	1	88	1	0	0	0	0	1	0	0	0	13204	1058	37	1	1182	1	RBM25	14	73570180	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110125	73570180	33779360	14296	22008											
PSEN1	5663	broad.mit.edu	37	chr14	73673163	73673163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggagagtatccaaaaattCcaagtataatgcagaaagta	8	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73673163C>T	ENST00000324501.5	+	9	1210	c.938C>T	c.(937-939)tCc>tTc	p.S313F	PSEN1_ENST00000261970.3_Missense_Mutation_p.S313F|PSEN1_ENST00000357710.4_Missense_Mutation_p.S309F|PSEN1_ENST00000557511.1_Missense_Mutation_p.S313F|PSEN1_ENST00000406768.1_Missense_Mutation_p.S221F|PSEN1_ENST00000344094.3_Missense_Mutation_p.S313F|PSEN1_ENST00000394164.1_Missense_Mutation_p.S309F	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	313					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TCCAAAAATTCCAAGTATAAT	0.368													False	0	False	14:73673163	0	T	73673163	C	T	73673163	3	4	88	1	0	0	0	0	1	0	0	0	12726	855	30	2	964	2	PSEN1	14	73673163	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102983	73673163	33676377	14297	22009											
PAPLN	89932	broad.mit.edu	37	chr14	73720627	73720627	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgccattcaggcctgtaaCctgcagcgctgtgcagcctg	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73720627C>T	ENST00000427855.1	+	12	1362	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N	PAPLN_ENST00000555445.1_Silent_p.N420N|PAPLN_ENST00000381166.3_Silent_p.N420N|PAPLN_ENST00000340738.5_Silent_p.N393N|PAPLN_ENST00000554301.1_Silent_p.N420N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	420	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGCCTGTAACCTGCAGCGCT	0.697													False	0	False	14:73720627	0	T	73720627	C	T	73720627	2	4	88	1	0	0	0	0	0	0	0	1	11496	506	18	2		2	PAPLN	14	73720627	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47464	73720627	33628913	14298	22010											
PAPLN	89932	broad.mit.edu	37	chr14	73721304	73721304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttgctccataccgcagcGtgctccttggaagaccggcc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73721304G>A	ENST00000427855.1	+	13	1488	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	PAPLN_ENST00000555445.1_Silent_p.A462A|PAPLN_ENST00000381166.3_Silent_p.A462A|PAPLN_ENST00000340738.5_Silent_p.A435A|PAPLN_ENST00000554301.1_Silent_p.A462A			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	462	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ATACCGCAGCGTGCTCCTTGG	0.612													False	0	False	14:73721304	0	A	73721304	G	A	73721304	2	1	88	1	0	0	0	0	0	0	0	1	11496	1132	40	1		1	PAPLN	14	73721304	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	677	73721304	33628236	14299	22011											
PAPLN	89932	broad.mit.edu	37	chr14	73729383	73729383	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccctggccttctggtggtctCtggcggcaagaccaacagcc	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73729383C>A	ENST00000427855.1	+	19	2673	c.2571C>A	c.(2569-2571)ctC>ctA	p.L857L	PAPLN_ENST00000555445.1_Silent_p.L841L|PAPLN_ENST00000381166.3_Silent_p.L857L|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000340738.5_Silent_p.L830L|PAPLN_ENST00000554301.1_Silent_p.L857L			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	857						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTGGTGGTCTCTGGCGGCAAG	0.687													False	0	False	14:73729383	0	A	73729383	C	A	73729383	2	1	88	1	0	0	0	0	0	0	0	1	11496	900	32	3		3	PAPLN	14	73729383	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8079	73729383	33620157	14300	22012											
PAPLN	89932	broad.mit.edu	37	chr14	73730979	73730979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggcagaggacgcgggCacctacagctgtggcagcac	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73730979C>T	ENST00000427855.1	+	21	3024	c.2922C>T	c.(2920-2922)ggC>ggT	p.G974G	PAPLN_ENST00000555445.1_Silent_p.G958G|PAPLN_ENST00000381166.3_Silent_p.G974G|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000340738.5_Silent_p.G947G|PAPLN_ENST00000554301.1_Silent_p.G974G			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	974	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGACGCGGGCACCTACAGCT	0.637													False	0	True	14:73730979	0	T	73730979	C	T	73730979	2	4	88	1	0	0	0	0	0	0	0	1	11496	697	25	2		2	PAPLN	14	73730979	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1596	73730979	33618561	14301	22013											
PAPLN	89932	broad.mit.edu	37	chr14	73733247	73733247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggctccctggtcattagccGagtggctgtagaagatggcg	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73733247G>A	ENST00000427855.1	+	24	3404	c.3302G>A	c.(3301-3303)cGa>cAa	p.R1101Q	PAPLN_ENST00000555445.1_Missense_Mutation_p.R1085Q|PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000340738.5_Missense_Mutation_p.R1074Q|PAPLN_ENST00000554301.1_Missense_Mutation_p.R1101Q			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1101	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTCATTAGCCGAGTGGCTGTA	0.602													False	0	False	14:73733247	0	A	73733247	G	A	73733247	3	1	88	1	0	0	0	0	1	0	0	0	11496	1058	37	1	3307	1	PAPLN	14	73733247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2268	73733247	33616293	14302	22014											
HEATR4	399671	broad.mit.edu	37	chr14	73967357	73967357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcttgggagaagcttgGcggtcataagcttgagctca	15	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73967357G>A	ENST00000553558.1	-	12	2504	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	HEATR4_ENST00000334988.2_Missense_Mutation_p.A728V|HEATR4_ENST00000560393.1_Missense_Mutation_p.A681V	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GAGAAGCTTGGCGGTCATAAG	0.552													False	0	False	14:73967357	0	A	73967357	G	A	73967357	3	1	88	1	0	0	0	0	1	0	0	0	7077	1203	42	2	925	2	HEATR4	14	73967357	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234110	73967357	33382183	14303	22015											
HEATR4	399671	broad.mit.edu	37	chr14	73989008	73989008	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaagcagcagttctggcttCttcttttcctgtgggggcag	14	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73989008C>A	ENST00000553558.1	-	3	1170	c.849G>T	c.(847-849)aaG>aaT	p.K283N	HEATR4_ENST00000334988.2_Missense_Mutation_p.K283N|HEATR4_ENST00000560393.1_Missense_Mutation_p.K236N	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GTTCTGGCTTCTTCTTTTCCT	0.532													False	0	True	14:73989008	0	A	73989008	C	A	73989008	3	1	88	1	0	0	0	0	1	0	0	0	7077	912	32	3	2295	3	HEATR4	14	73989008	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21651	73989008	33360532	14304	22016											
ENTPD5	957	broad.mit.edu	37	chr14	74433689	74433689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcccccaaggcccagcccGtctctatgttgttcactttc	8	16	2	0	rs149673221	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74433689G>A	ENST00000334696.6	-	16	1548	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M	ENTPD5_ENST00000557325.1_Intron	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	410					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GGCCCAGCCCGTCTCTATGTT	0.498													False	0	True	14:74433689	0	A	74433689	G	A	74433689	3	1	88	1	0	0	0	0	1	0	0	0	5174	1145	40	1	61	1	ENTPD5	14	74433689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	444681	74433689	32915851	14305	22017											
ALDH6A1	4329	broad.mit.edu	37	chr14	74538953	74538953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggagcaagacctgctggcGgcttaatactgaagtgtctg	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74538953G>A	ENST00000553458.1	-	4	399	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.R101C|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'UTR	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	101						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	ACCTGCTGGCGGCTTAATACT	0.468													False	0	False	14:74538953	0	A	74538953	G	A	74538953	3	1	88	1	0	0	0	0	1	0	0	0	503	1116	39	1	1342	1	ALDH6A1	14	74538953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105264	74538953	32810587	14306	22018											
ISCA2	122961	broad.mit.edu	37	chr14	74961670	74961670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaagcacagcaaggctgCtcctgtgggtcatctttctc	9	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74961670C>T	ENST00000556816.1	+	4	487	c.432C>T	c.(430-432)tgC>tgT	p.C144C	ISCA2_ENST00000554924.1_3'UTR|ISCA2_ENST00000298818.8_3'UTR			Q86U28	ISCA2_HUMAN	iron-sulfur cluster assembly 2	144					iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00146)		AGCAAGGCTGCTCCTGTGGGT	0.463													False	0	False	14:74961670	0	T	74961670	C	T	74961670	2	4	88	1	0	0	0	0	0	0	0	1	7901	805	28	2		2	ISCA2	14	74961670	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	422717	74961670	32387870	14307	22019											
LTBP2	4053	broad.mit.edu	37	chr14	74971732	74971732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcatctccccagctagcGccctgggtgcagcagcattc	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74971732G>A	ENST00000261978.4	-	29	4709	c.4323C>T	c.(4321-4323)ggC>ggT	p.G1441G	LTBP2_ENST00000556690.1_Silent_p.G1397G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1441	TB 3.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCAGCTAGCGCCCTGGGTGC	0.632													False	0	True	14:74971732	0	A	74971732	G	A	74971732	2	1	88	1	0	0	0	0	0	0	0	1	9136	1074	38	1		1	LTBP2	14	74971732	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10062	74971732	32377808	14308	22020											
LTBP2	4053	broad.mit.edu	37	chr14	74975656	74975656	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcttcacattcatccacatCtgcagggccacacaggggag	10	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74975656C>T	ENST00000261978.4	-	23	3790		c.e23-1		LTBP2_ENST00000556690.1_Splice_Site	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2						protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCATCCACATCTGCAGGGCCA	0.617													False	0	False	14:74975656	0	T	74975656	C	T	74975656	5	4	88	1	0	0	0	0	0	0	1	0	9136	927	32	2	2118	2	LTBP2	14	74975656	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3924	74975656	32373884	14309	22021											
YLPM1	56252	broad.mit.edu	37	chr14	75279362	75279362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttatcctgaggagcgaatGcctctgccagctccttcact	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75279362G>A	ENST00000325680.7	+	11	5503	c.5379G>A	c.(5377-5379)atG>atA	p.M1793I	YLPM1_ENST00000238571.3_Missense_Mutation_p.M1598I|YLPM1_ENST00000552421.1_Missense_Mutation_p.M1087I	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGGAGCGAATGCCTCTGCCAG	0.463													False	0	False	14:75279362	0	A	75279362	G	A	75279362	3	1	88	1	0	0	0	0	1	0	0	0	17570	1319	46	2	5421	2	YLPM1	14	75279362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	303706	75279362	32070178	14310	22022											
YLPM1	56252	broad.mit.edu	37	chr14	75284986	75284986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgatgcgtctagatattcGttctttgctgcaagatgctg	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75284986G>A	ENST00000325680.7	+	16	6123	c.5999G>A	c.(5998-6000)cGt>cAt	p.R2000H	YLPM1_ENST00000238571.3_Missense_Mutation_p.R1765H|YLPM1_ENST00000552421.1_Missense_Mutation_p.R1294H	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTAGATATTCGTTCTTTGCTG	0.378													False	0	False	14:75284986	0	A	75284986	G	A	75284986	3	1	88	1	0	0	0	0	1	0	0	0	17570	1145	40	1	6061	1	YLPM1	14	75284986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5624	75284986	32064554	14311	22023											
MLH3	27030	broad.mit.edu	37	chr14	75515131	75515131	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtagtttttcttttcacagCttttgactgcaaattaaaca	5	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75515131C>A	ENST00000355774.2	-	2	1443	c.1228G>T	c.(1228-1230)Gct>Tct	p.A410S	MLH3_ENST00000556257.1_Missense_Mutation_p.A410S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.A410S|MLH3_ENST00000556740.1_Missense_Mutation_p.A410S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	410					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTTTTCACAGCTTTTGACTGC	0.348								Mismatch excision repair (MMR)					False	0	True	14:75515131	0	A	75515131	C	A	75515131	3	1	88	1	0	0	0	0	1	0	0	0	9685	797	28	3	3181	3	MLH3	14	75515131	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230145	75515131	31834409	14312	22024											
NEK9	91754	broad.mit.edu	37	chr14	75567812	75567812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtagttcccaacgcccaGctgcccacacttgttgcagc	8	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75567812G>A	ENST00000238616.5	-	16	2043	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	629					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CCAACGCCCAGCTGCCCACAC	0.542													False	0	False	14:75567812	0	A	75567812	G	A	75567812	2	1	88	1	0	0	0	0	0	0	0	1	10399	962	34	2		2	NEK9	14	75567812	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52681	75567812	31781728	14313	22025											
TMED10	10972	broad.mit.edu	37	chr14	75618848	75618848	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcagaatctgtgatcTaaaataagaaaagtagtaag	10	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75618848T>C	ENST00000303575.4	-	2	277		c.e2-2			NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		ATCTGTGATCTAAAATAAGAA	0.373													False	0	True	14:75618848	0	C	75618848	T	C	75618848	5	2	88	1	0	0	0	0	0	0	1	0	16085	1536	53	4	451	4	TMED10	14	75618848	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	51036	75618848	31730692	14314	22026											
TMED10	10972	broad.mit.edu	37	chr14	75643079	75643079	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggtggctgcgcaggccGccagcgcccccagactggtc	15	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75643079G>A	ENST00000303575.4	-	1	255	c.204C>T	c.(202-204)ggC>ggT	p.G68G		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	68	GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TGCGCAGGCCGCCAGCGCCCC	0.662													False	0	False	14:75643079	0	A	75643079	G	A	75643079	2	1	88	1	0	0	0	0	0	0	0	1	16085	1074	38	1		1	TMED10	14	75643079	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24231	75643079	31706461	14315	22027											
BATF	10538	broad.mit.edu	37	chr14	76012831	76012831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacctggagaaacagaaCgcggctctacgcaaggagat	13	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76012831C>T	ENST00000286639.6	+	3	453	c.195C>T	c.(193-195)aaC>aaT	p.N65N	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	65	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		AGAAACAGAACGCGGCTCTAC	0.607													False	0	False	14:76012831	0	T	76012831	C	T	76012831	2	4	88	1	0	0	0	0	0	0	0	1	1329	535	19	1		1	BATF	14	76012831	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	369752	76012831	31336709	14316	22028											
FLVCR2	55640	broad.mit.edu	37	chr14	76108229	76108229	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacagaaagcaaacaaagaAactcttgagaacgtgagtat	9	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76108229A>G	ENST00000238667.4	+	9	1853	c.1497A>G	c.(1495-1497)gaA>gaG	p.E499E	FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000539311.1_Silent_p.E294E|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000555027.1_Silent_p.E214E	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	499					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAAACAAAGAAACTCTTGAGA	0.453													False	0	True	14:76108229	0	G	76108229	A	G	76108229	2	3	88	1	0	0	0	0	0	0	0	1	5986	11	1	4		4	FLVCR2	14	76108229	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	95398	76108229	31241311	14317	22029											
TTLL5	23093	broad.mit.edu	37	chr14	76135778	76135778	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggatcatccatgcatcatgTggactggaggctgcaggaga	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76135778T>C	ENST00000298832.9	+	3	299	c.94T>C	c.(94-96)Tgg>Cgg	p.W32R	TTLL5_ENST00000286650.5_Missense_Mutation_p.W32R|TTLL5_ENST00000557636.1_Missense_Mutation_p.W32R|TTLL5_ENST00000556977.1_Missense_Mutation_p.W32R	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	32					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATGCATCATGTGGACTGGAGG	0.408													False	0	False	14:76135778	0	C	76135778	T	C	76135778	3	2	88	1	0	0	0	0	1	0	0	0	16814	1696	59	4	100	4	TTLL5	14	76135778	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27549	76135778	31213762	14318	22030											
TTLL5	23093	broad.mit.edu	37	chr14	76231067	76231067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctggaggtgcgaaaaCgtagacgacggagtagcaga	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76231067C>T	ENST00000298832.9	+	19	1865	c.1660C>T	c.(1660-1662)Cgt>Tgt	p.R554C	TTLL5_ENST00000554510.1_Missense_Mutation_p.R63C|TTLL5_ENST00000556893.1_Missense_Mutation_p.R105C|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.R568C	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	554	Poly-Arg.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGTGCGAAAACGTAGACGACG	0.507													False	0	True	14:76231067	0	T	76231067	C	T	76231067	3	4	88	1	0	0	0	0	1	0	0	0	16814	536	19	1	1730	1	TTLL5	14	76231067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95289	76231067	31118473	14319	22031											
TTLL5	23093	broad.mit.edu	37	chr14	76248892	76248892	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctaaacagcaacagacgacaGaaattcattctgataaatta	5	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76248892G>T	ENST00000298832.9	+	25	2783	c.2578G>T	c.(2578-2580)Gaa>Taa	p.E860*	TTLL5_ENST00000554510.1_Nonsense_Mutation_p.E369*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.E411*|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Nonsense_Mutation_p.E874*	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	860					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACAGACGACAGAAATTCATTC	0.338													False	0	True	14:76248892	0	T	76248892	G	T	76248892	4	4	88	1	0	0	0	0	0	1	0	0	16814	943	33	3	2672	3	TTLL5	14	76248892	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17825	76248892	31100648	14320	22032											
ESRRB	2103	broad.mit.edu	37	chr14	76905684	76905684	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccgatttgtgtccacagGctgctgaacaggatgtcctc	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76905684G>A	ENST00000380887.2	+	0	60				ESRRB_ENST00000261532.7_De_novo_Start_InFrame|ESRRB_ENST00000556177.1_De_novo_Start_InFrame|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000509242.1_De_novo_Start_InFrame			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GTGTCCACAGGCTGCTGAACA	0.647													False	0	False	14:76905684	0	A	76905684	G	A	76905684	1	1	88	1	0	0	0	0	0	0	0	0	5293	1217	42	2		2	ESRRB	14	76905684	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	656792	76905684	30443856	14321	22033											
ESRRB	2103	broad.mit.edu	37	chr14	76905708	76905708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacaggatgtcctcggaCgacaggcacctgggctccag	13	13	0	1	rs1141580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76905708C>T	ENST00000380887.2	+	2	84	c.12C>T	c.(10-12)gaC>gaT	p.D4D	ESRRB_ENST00000261532.7_Silent_p.D4D|ESRRB_ENST00000556177.1_Silent_p.D4D|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000509242.1_Silent_p.D4D			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	4						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGTCCTCGGACGACAGGCACC	0.657													False	0	False	14:76905708	0	T	76905708	C	T	76905708	2	4	88	1	0	0	0	0	0	0	0	1	5293	535	19	1		1	ESRRB	14	76905708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24	76905708	30443832	14322	22034											
KIAA1737	85457	broad.mit.edu	37	chr14	77576198	77576198	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagagcagatggagtcCgaggacatgctgagcgcctt	14	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77576198C>T	ENST00000361786.2	+	3	497	c.180C>T	c.(178-180)tcC>tcT	p.S60S	KIAA1737_ENST00000555437.1_Intron|KIAA1737_ENST00000555611.1_Silent_p.S60S|RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	60										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGATGGAGTCCGAGGACATGC	0.557													False	0	False	14:77576198	0	T	77576198	C	T	77576198	2	4	88	1	0	0	0	0	0	0	0	1	8305	639	23	1		1	KIAA1737	14	77576198	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	670490	77576198	29773342	14323	22035											
KIAA1737	85457	broad.mit.edu	37	chr14	77580103	77580103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccatccagtccctcgacGccagcaccacccagcgccaa	7	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77580103G>A	ENST00000361786.2	+	4	959	c.642G>A	c.(640-642)acG>acA	p.T214T	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	214										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GTCCCTCGACGCCAGCACCAC	0.582													False	0	False	14:77580103	0	A	77580103	G	A	77580103	2	1	88	1	0	0	0	0	0	0	0	1	8305	1074	38	1		1	KIAA1737	14	77580103	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3905	77580103	29769437	14324	22036											
ZDHHC22	283576	broad.mit.edu	37	chr14	77605761	77605761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagaaacagtgatggtcGtgcctcagggtgactctggc	15	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77605761G>A	ENST00000319374.4	-	2	523	c.321C>T	c.(319-321)caC>caT	p.H107H	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	107						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGTGATGGTCGTGCCTCAGGG	0.627													False	0	False	14:77605761	0	A	77605761	G	A	77605761	2	1	88	1	0	0	0	0	0	0	0	1	17696	1136	40	1		1	ZDHHC22	14	77605761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25658	77605761	29743779	14325	22037											
ZDHHC22	283576	broad.mit.edu	37	chr14	77606018	77606018	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagagctgcagcacgaaggTcaccagggagatgcacaaga	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77606018T>C	ENST00000319374.4	-	2	266	c.64A>G	c.(64-66)Acc>Gcc	p.T22A	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	22						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGCACGAAGGTCACCAGGGAG	0.677											OREG0022834	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	14:77606018	0	C	77606018	T	C	77606018	3	2	88	1	0	0	0	0	1	0	0	0	17696	1667	58	4	735	4	ZDHHC22	14	77606018	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	257	77606018	29743522	14326	22038											
POMT2	29954	broad.mit.edu	37	chr14	77787020	77787020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccgcccgtggccggcGgcatcttccccctcctctgg	12	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77787020G>A	ENST00000261534.4	-	1	207	c.5C>T	c.(4-6)cCg>cTg	p.P2L		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	2					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CGTGGCCGGCGGCATCTTCCC	0.746													False	0	False	14:77787020	0	A	77787020	G	A	77787020	3	1	88	1	0	0	0	0	1	0	0	0	12315	1116	39	1	2331	1	POMT2	14	77787020	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181002	77787020	29562520	14327	22039											
TMED8	283578	broad.mit.edu	37	chr14	77810118	77810118	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcctgtatgttcagactGgatcataacgatgtccccag	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77810118G>A	ENST00000216468.7	-	4	431	c.376C>T	c.(376-378)Cag>Tag	p.Q126*		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	126					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGTTCAGACTGGATCATAACG	0.448													False	0	False	14:77810118	0	A	77810118	G	A	77810118	4	1	88	1	0	0	0	0	0	1	0	0	16093	1357	47	2	612	2	TMED8	14	77810118	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23098	77810118	29539422	14328	22040											
TMED8	283578	broad.mit.edu	37	chr14	77812773	77812773	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccaaaggaccagttgctttCcgcagatcttccgtggcatc	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77812773C>T	ENST00000216468.7	-	3	301	c.246G>A	c.(244-246)cgG>cgA	p.R82R		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	82					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAGTTGCTTTCCGCAGATCTT	0.517													False	0	True	14:77812773	0	T	77812773	C	T	77812773	2	4	88	1	0	0	0	0	0	0	0	1	16093	842	30	2		2	TMED8	14	77812773	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2655	77812773	29536767	14329	22041											
ISM2	145501	broad.mit.edu	37	chr14	77942269	77942269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagatgtccaggcgctcgCgagggccactggcatccctc	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77942269C>T	ENST00000393684.3	-	8	1512	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	ISM2_ENST00000412904.1_Missense_Mutation_p.R381H|ISM2_ENST00000342219.4_Missense_Mutation_p.R462H|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Missense_Mutation_p.R381H			Q6H9L7	ISM2_HUMAN	isthmin 2	462						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CAGGCGCTCGCGAGGGCCACT	0.672													False	0	False	14:77942269	0	T	77942269	C	T	77942269	3	4	88	1	0	0	0	0	1	0	0	0	7911	768	27	1	334	1	ISM2	14	77942269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129496	77942269	29407271	14330	22042											
ISM2	145501	broad.mit.edu	37	chr14	77942335	77942335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcctgtaggctcacagggCtgtccatggcctccagtggg	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77942335C>T	ENST00000393684.3	-	8	1446	c.1055G>A	c.(1054-1056)aGc>aAc	p.S352N	ISM2_ENST00000412904.1_Missense_Mutation_p.S359N|ISM2_ENST00000342219.4_Missense_Mutation_p.S440N|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Missense_Mutation_p.S359N			Q6H9L7	ISM2_HUMAN	isthmin 2	440	TSP type-1.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCTCACAGGGCTGTCCATGGC	0.652													False	0	True	14:77942335	0	T	77942335	C	T	77942335	3	4	88	1	0	0	0	0	1	0	0	0	7911	797	28	2	400	2	ISM2	14	77942335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66	77942335	29407205	14331	22043											
SPTLC2	9517	broad.mit.edu	37	chr14	78063618	78063618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatccaaagagggtgagtaCgccataccccacatacgtga	9	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78063618C>T	ENST00000216484.2	-	2	431	c.238G>A	c.(238-240)Gta>Ata	p.V80I		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	80						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGGGTGAGTACGCCATACCCC	0.398													False	0	False	14:78063618	0	T	78063618	C	T	78063618	3	4	88	1	0	0	0	0	1	0	0	0	15206	536	19	1	1494	1	SPTLC2	14	78063618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121283	78063618	29285922	14332	22044											
ALKBH1	8846	broad.mit.edu	37	chr14	78142126	78142126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctcaaatccacaggcagCggctacttgctctgagagga	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78142126C>T	ENST00000216489.3	-	5	628	c.613G>A	c.(613-615)Gct>Act	p.A205T		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	205					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCACAGGCAGCGGCTACTTGC	0.458													False	0	False	14:78142126	0	T	78142126	C	T	78142126	3	4	88	1	0	0	0	0	1	0	0	0	526	768	27	1	564	1	ALKBH1	14	78142126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78508	78142126	29207414	14333	22045											
SNW1	22938	broad.mit.edu	37	chr14	78189607	78189607	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggatttcatccctctcacgTgcctccccatcctctgtgtg	7	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78189607T>C	ENST00000261531.7	-	11	1109	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Silent_p.A349A|SNW1_ENST00000554775.1_Silent_p.A187A	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	349					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCCTCTCACGTGCCTCCCCAT	0.413													False	0	False	14:78189607	0	C	78189607	T	C	78189607	2	2	88	1	0	0	0	0	0	0	0	1	14959	1683	59	4		4	SNW1	14	78189607	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47481	78189607	29159933	14334	22046											
SNW1	22938	broad.mit.edu	37	chr14	78221419	78221419	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatcttgccttttcttcaGcctcaagctggtcctgagat	10	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78221419G>T	ENST00000261531.7	-	2	121	c.59C>A	c.(58-60)gCt>gAt	p.A20D	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A20D|SNW1_ENST00000554775.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	20					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTTTTCTTCAGCCTCAAGCTG	0.453													False	0	False	14:78221419	0	T	78221419	G	T	78221419	3	4	88	1	0	0	0	0	1	0	0	0	14959	971	34	3	1603	3	SNW1	14	78221419	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31812	78221419	29128121	14335	22047											
ADCK1	57143	broad.mit.edu	37	chr14	78365490	78365490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccagagtttgagtttatGtggcttgtggatgaagccaa	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78365490G>A	ENST00000238561.5	+	6	729	c.630G>A	c.(628-630)atG>atA	p.M210I	ADCK1_ENST00000341211.5_Missense_Mutation_p.M142I	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	217	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TTGAGTTTATGTGGCTTGTGG	0.502													False	0	False	14:78365490	0	A	78365490	G	A	78365490	3	1	88	1	0	0	0	0	1	0	0	0	288	1377	48	2	648	2	ADCK1	14	78365490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144071	78365490	28984050	14336	22048											
ADCK1	57143	broad.mit.edu	37	chr14	78390815	78390815	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcagatctcacgccacctgGgcaagatgtatagtgagatg	11	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78390815G>T	ENST00000238561.5	+	8	973	c.874G>T	c.(874-876)Ggc>Tgc	p.G292C	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.G224C	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	299	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACGCCACCTGGGCAAGATGTA	0.572													False	0	True	14:78390815	0	T	78390815	G	T	78390815	3	4	88	1	0	0	0	0	1	0	0	0	288	1232	43	3	900	3	ADCK1	14	78390815	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25325	78390815	28958725	14337	22049											
ADCK1	57143	broad.mit.edu	37	chr14	78392209	78392209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccagcgactgggagccGgggatctctaccccttgttt	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78392209G>A	ENST00000238561.5	+	9	1210	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.G303R	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	378	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACTGGGAGCCGGGGATCTCTA	0.582													False	0	True	14:78392209	0	A	78392209	G	A	78392209	3	1	88	1	0	0	0	0	1	0	0	0	288	1116	39	1	1141	1	ADCK1	14	78392209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1394	78392209	28957331	14338	22050											
NRXN3	9369	broad.mit.edu	37	chr14	79175616	79175616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgcctggcccggattgcGgacaccaagatgaaaatcta	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79175616G>A	ENST00000554719.1	+	4	650	c.159G>A	c.(157-159)gcG>gcA	p.A53A	NRXN3_ENST00000335750.5_Silent_p.A53A|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane		p.A53A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCCGGATTGCGGACACCAAGA	0.463													False	0	False	14:79175616	0	A	79175616	G	A	79175616	2	1	88	1	0	0	0	0	0	0	0	1	10735	1103	39	1		1	NRXN3	14	79175616	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	783407	79175616	28173924	14339	22051											
NRXN3	9369	broad.mit.edu	37	chr14	79175641	79175641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagatgaaaatctatggcGaagttgtgtttaagtgtgag	12	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79175641G>A	ENST00000554719.1	+	4	675	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	NRXN3_ENST00000335750.5_Missense_Mutation_p.E62K|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AATCTATGGCGAAGTTGTGTT	0.468													False	0	False	14:79175641	0	A	79175641	G	A	79175641	3	1	88	1	0	0	0	0	1	0	0	0	10735	1059	37	1	190	1	NRXN3	14	79175641	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25	79175641	28173899	14340	22052											
NRXN3	9369	broad.mit.edu	37	chr14	79433613	79433613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaaggcaacagtgaccGccccctgaatgacaaccagt	9	13	1	3	rs140528152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79433613G>A	ENST00000554719.1	+	10	2212	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NRXN3_ENST00000335750.5_Missense_Mutation_p.R574H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	166					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACAGTGACCGCCCCCTGAAT	0.423													False	0	True	14:79433613	0	A	79433613	G	A	79433613	3	1	88	1	0	0	0	0	1	0	0	0	10735	1087	38	1	1751	1	NRXN3	14	79433613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257972	79433613	27915927	14341	22053											
NRXN3	9369	broad.mit.edu	37	chr14	79454462	79454462	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgttctatgacctcttaTtctggaaaccagtgcaatga	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79454462T>C	ENST00000554719.1	+	12	2612	c.2121T>C	c.(2119-2121)taT>taC	p.Y707Y	NRXN3_ENST00000335750.5_Silent_p.Y707Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGACCTCTTATTCTGGAAACC	0.438													False	0	False	14:79454462	0	C	79454462	T	C	79454462	2	2	88	1	0	0	0	0	0	0	0	1	10735	1500	52	4		4	NRXN3	14	79454462	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20849	79454462	27895078	14342	22054											
NRXN3	9369	broad.mit.edu	37	chr14	80158534	80158534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaacactgataatgaacGcttccaaatggtaaaacaga	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:80158534G>A	ENST00000428277.2	+	4	1006	c.620G>A	c.(619-621)cGc>cAc	p.R207H	RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000557594.1_Intron	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	200	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GATAATGAACGCTTCCAAATG	0.328													False	0	False	14:80158534	0	A	80158534	G	A	80158534	3	1	88	1	0	0	0	0	1	0	0	0	10735	1087	38	1	2817	1	NRXN3	14	80158534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704072	80158534	27191006	14343	22055											
DIO2	1734	broad.mit.edu	37	chr14	80669213	80669213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttggcgttattgtccatgCggtcagccacaactcggcac	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:80669213C>T	ENST00000557010.1	-	4	1026	c.641G>A	c.(640-642)cGc>cAc	p.R214H	DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.R214H|DIO2_ENST00000555750.1_Missense_Mutation_p.R250H	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	214					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATTGTCCATGCGGTCAGCCAC	0.547											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	14:80669213	0	T	80669213	C	T	80669213	3	4	88	1	0	0	0	0	1	0	0	0	4555	768	27	1	184	1	DIO2	14	80669213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510679	80669213	26680327	14344	22056											
DIO2	1734	broad.mit.edu	37	chr14	80669239	80669239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacaactcggcactggggCggcaaggagaaacgctccag	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:80669239C>T	ENST00000557010.1	-	4	1000	c.615G>A	c.(613-615)ccG>ccA	p.P205P	DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Silent_p.P205P|DIO2_ENST00000555750.1_Silent_p.P241P	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	205					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.P205P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGCACTGGGGCGGCAAGGAGA	0.537											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	14:80669239	0	T	80669239	C	T	80669239	2	4	88	1	0	0	0	0	0	0	0	1	4555	755	27	1		1	DIO2	14	80669239	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26	80669239	26680301	14345	22057											
TSHR	7253	broad.mit.edu	37	chr14	81554371	81554371	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctccccctcctaaagttcCtgtaagtattaaatcctctc	4	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81554371C>A	ENST00000541158.2	+	5	713	c.391C>A	c.(391-393)Ctt>Att	p.L131I	TSHR_ENST00000342443.6_Splice_Site_p.L131I|TSHR_ENST00000554435.1_Splice_Site_p.L131I|TSHR_ENST00000298171.2_Splice_Site_p.L131I|TSHR_ENST00000554263.1_Splice_Site_p.L131I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	131					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCTAAAGTTCCTGTAAGTATT	0.458			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						False	0	False	14:81554371	0	A	81554371	C	A	81554371	5	1	88	1	0	0	0	0	0	0	1	0	16705	695	24	3	405	3	TSHR	14	81554371	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	885132	81554371	25795169	14346	22058											
TSHR	7253	broad.mit.edu	37	chr14	81609439	81609439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagtccaagttccaggataCtcataacaacgctcattatt	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81609439C>T	ENST00000541158.2	+	11	1359	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.T346I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	346					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTCCAGGATACTCATAACAAC	0.438			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						False	0	False	14:81609439	0	T	81609439	C	T	81609439	3	4	88	1	0	0	0	0	1	0	0	0	16705	565	20	2	1212	2	TSHR	14	81609439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55068	81609439	25740101	14347	22059											
TSHR	7253	broad.mit.edu	37	chr14	81609861	81609861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtactacaaccatgccatcGactggcagacaggccctggg	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81609861G>A	ENST00000541158.2	+	11	1781	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.D487N			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	487					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCATGCCATCGACTGGCAGAC	0.552			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						False	0	False	14:81609861	0	A	81609861	G	A	81609861	3	1	88	1	0	0	0	0	1	0	0	0	16705	1058	37	1	1634	1	TSHR	14	81609861	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	422	81609861	25739679	14348	22060											
STON2	85439	broad.mit.edu	37	chr14	81862432	81862432	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgagtgggaatggtcttgaGagcctccatccaccacatgg	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81862432G>T	ENST00000555447.1	-	4	591	c.179C>A	c.(178-180)tCt>tAt	p.S60Y	STON2_ENST00000267540.2_Missense_Mutation_p.S60Y	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	60					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATGGTCTTGAGAGCCTCCATC	0.602													False	0	False	14:81862432	0	T	81862432	G	T	81862432	3	4	88	1	0	0	0	0	1	0	0	0	15400	942	33	3	2552	3	STON2	14	81862432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	252571	81862432	25487108	14349	22061											
FLRT2	23768	broad.mit.edu	37	chr14	86088565	86088565	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caccaagctcaaggaattttCaattgtacgtaattcgctgt	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:86088565C>T	ENST00000330753.4	+	2	1474	c.707C>T	c.(706-708)tCa>tTa	p.S236L	FLRT2_ENST00000554746.1_Missense_Mutation_p.S236L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	236					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAGGAATTTTCAATTGTACGT	0.517													False	0	True	14:86088565	0	T	86088565	C	T	86088565	3	4	88	1	0	0	0	0	1	0	0	0	5979	838	29	2	709	2	FLRT2	14	86088565	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4226133	86088565	21260975	14350	22062											
FLRT2	23768	broad.mit.edu	37	chr14	86089311	86089311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcctggttaacttagagCcccgatccacctatcggatt	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:86089311C>T	ENST00000330753.4	+	2	2220	c.1453C>T	c.(1453-1455)Ccc>Tcc	p.P485S	FLRT2_ENST00000554746.1_Missense_Mutation_p.P485S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	485	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAACTTAGAGCCCCGATCCAC	0.522													False	0	True	14:86089311	0	T	86089311	C	T	86089311	3	4	88	1	0	0	0	0	1	0	0	0	5979	739	26	2	1455	2	FLRT2	14	86089311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	746	86089311	21260229	14351	22063											
GALC	2581	broad.mit.edu	37	chr14	88411996	88411996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagcgtgaagtgatgctcgCcagggtcttcaatatttgta	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88411996C>T	ENST00000261304.2	-	14	1677	c.1571G>A	c.(1570-1572)gGc>gAc	p.G524D	GALC_ENST00000393568.4_Missense_Mutation_p.G501D|GALC_ENST00000544807.2_Missense_Mutation_p.G468D|GALC_ENST00000393569.2_Missense_Mutation_p.G498D	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	524					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGATGCTCGCCAGGGTCTTC	0.408													False	0	False	14:88411996	0	T	88411996	C	T	88411996	3	4	88	1	0	0	0	0	1	0	0	0	6244	739	26	2	502	2	GALC	14	88411996	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2322685	88411996	18937544	14352	22064											
GPR65	0	broad.mit.edu	37	chr14	88477387	88477387	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagatttactctatgcattaActctccctttatggattgat	5	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88477387A>C	ENST00000267549.3	+	2	754	c.196A>C	c.(196-198)Act>Cct	p.T66P	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	66					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTATGCATTAACTCTCCCTTT	0.378													False	0	False	14:88477387	0	C	88477387	A	C	88477387	3	2	88	1	0	0	0	0	1	0	0	0	6752	43	2	4	198	4	GPR65	14	88477387	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65391	88477387	18872153	14353	22065											
KCNK10	54207	broad.mit.edu	37	chr14	88652276	88652276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggatgaggccttgaagCggccggtgtccagggcagca	17	11	0	2	rs144714447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88652276C>T	ENST00000340700.5	-	7	1671	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	KCNK10_ENST00000319231.5_Missense_Mutation_p.R412H|KCNK10_ENST00000312350.5_Missense_Mutation_p.R412H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	407					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGCCTTGAAGCGGCCGGTGTC	0.667													False	0	False	14:88652276	0	T	88652276	C	T	88652276	3	4	88	1	0	0	0	0	1	0	0	0	8109	768	27	1	400	1	KCNK10	14	88652276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174889	88652276	18697264	14354	22066											
KCNK10	54207	broad.mit.edu	37	chr14	88654372	88654372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatcatactgaggacagctGcaaagtaggcaaggccaaca	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88654372G>A	ENST00000340700.5	-	6	1386	c.935C>T	c.(934-936)gCa>gTa	p.A312V	KCNK10_ENST00000319231.5_Missense_Mutation_p.A317V|KCNK10_ENST00000312350.5_Missense_Mutation_p.A317V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	312					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAGGACAGCTGCAAAGTAGGC	0.473													False	0	False	14:88654372	0	A	88654372	G	A	88654372	3	1	88	1	0	0	0	0	1	0	0	0	8109	1319	46	2	689	2	KCNK10	14	88654372	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2096	88654372	18695168	14355	22067											
KCNK10	54207	broad.mit.edu	37	chr14	88658693	88658693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcacaaacacaatgcagCcggccaagatgaacaggatg	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88658693C>T	ENST00000340700.5	-	5	1179	c.728G>A	c.(727-729)gGc>gAc	p.G243D	KCNK10_ENST00000319231.5_Missense_Mutation_p.G248D|KCNK10_ENST00000312350.5_Missense_Mutation_p.G248D	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	243					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CACAATGCAGCCGGCCAAGAT	0.507													False	0	False	14:88658693	0	T	88658693	C	T	88658693	3	4	88	1	0	0	0	0	1	0	0	0	8109	739	26	2	900	2	KCNK10	14	88658693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4321	88658693	18690847	14356	22068											
SPATA7	55812	broad.mit.edu	37	chr14	88904553	88904553	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcatccaagtatttcagaCagtttaacagatcgggaaac	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88904553C>T	ENST00000556553.1	+	12	2050	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	SPATA7_ENST00000393545.4_Silent_p.D529D|SPATA7_ENST00000356583.5_Silent_p.D497D|SPATA7_ENST00000045347.7_Intron			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	529					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GTATTTCAGACAGTTTAACAG	0.348													False	0	False	14:88904553	0	T	88904553	C	T	88904553	2	4	88	1	0	0	0	0	0	0	0	1	15096	477	17	2		2	SPATA7	14	88904553	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245860	88904553	18444987	14357	22069											
PTPN21	11099	broad.mit.edu	37	chr14	88946237	88946237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaagctgtagctcaggCtgaacgggcagtgtgcggcc	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88946237C>T	ENST00000556564.1	-	13	1822	c.1538G>A	c.(1537-1539)aGc>aAc	p.S513N	PTPN21_ENST00000328736.3_Missense_Mutation_p.S513N	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	513						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTAGCTCAGGCTGAACGGGCA	0.711													False	0	False	14:88946237	0	T	88946237	C	T	88946237	3	4	88	1	0	0	0	0	1	0	0	0	12865	797	28	2	2014	2	PTPN21	14	88946237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41684	88946237	18403303	14358	22070											
PTPN21	11099	broad.mit.edu	37	chr14	88983460	88983460	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taatctcctgctgcagctgaGaaactgaaggcacataaaac	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88983460G>T	ENST00000556564.1	-	3	610	c.326C>A	c.(325-327)tCt>tAt	p.S109Y	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.S109Y	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	109	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGCAGCTGAGAAACTGAAGG	0.403													False	0	True	14:88983460	0	T	88983460	G	T	88983460	3	4	88	1	0	0	0	0	1	0	0	0	12865	942	33	3	3266	3	PTPN21	14	88983460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37223	88983460	18366080	14359	22071											
PTPN21	11099	broad.mit.edu	37	chr14	88983472	88983472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgagaaactgaaggcAcataaaacaccactccaaaa	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88983472A>G	ENST00000556564.1	-	3	598	c.314T>C	c.(313-315)gTg>gCg	p.V105A	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.V105A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	105	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AACTGAAGGCACATAAAACAC	0.403													False	0	False	14:88983472	0	G	88983472	A	G	88983472	3	3	88	1	0	0	0	0	1	0	0	0	12865	159	6	4	3278	4	PTPN21	14	88983472	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12	88983472	18366068	14360	22072											
ZC3H14	79882	broad.mit.edu	37	chr14	89038501	89038501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacttgccattcctagCgcgagacctgaaaaaagaga	8	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89038501C>T	ENST00000251038.5	+	5	588	c.363C>T	c.(361-363)agC>agT	p.S121S	ZC3H14_ENST00000359301.3_Silent_p.S87S|ZC3H14_ENST00000302216.8_Silent_p.S121S|ZC3H14_ENST00000393514.5_Silent_p.S121S|ZC3H14_ENST00000555755.1_Silent_p.S121S|ZC3H14_ENST00000556945.1_Silent_p.S121S|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000336693.4_Silent_p.S87S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	121						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CCATTCCTAGCGCGAGACCTG	0.488													False	0	False	14:89038501	0	T	89038501	C	T	89038501	2	4	88	1	0	0	0	0	0	0	0	1	17649	767	27	1		1	ZC3H14	14	89038501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55029	89038501	18311039	14361	22073											
ZC3H14	79882	broad.mit.edu	37	chr14	89039209	89039209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcaacagcagcagaataGtattcatgctgccaagcagc	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89039209G>A	ENST00000251038.5	+	6	944	c.719G>A	c.(718-720)aGt>aAt	p.S240N	ZC3H14_ENST00000359301.3_Missense_Mutation_p.S206N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.S240N|ZC3H14_ENST00000393514.5_Missense_Mutation_p.S240N|ZC3H14_ENST00000555755.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000556945.1_Missense_Mutation_p.S240N|ZC3H14_ENST00000557607.1_Missense_Mutation_p.S85N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.S206N	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	240						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CAGCAGAATAGTATTCATGCT	0.408													False	0	False	14:89039209	0	A	89039209	G	A	89039209	3	1	88	1	0	0	0	0	1	0	0	0	17649	1029	36	2	741	2	ZC3H14	14	89039209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	708	89039209	18310331	14362	22074											
ZC3H14	79882	broad.mit.edu	37	chr14	89044479	89044479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggagattctgtagaaaaaaAtcaaggtaataacttaaatg	8	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89044479A>G	ENST00000251038.5	+	9	1499	c.1274A>G	c.(1273-1275)aAt>aGt	p.N425S	ZC3H14_ENST00000359301.3_Missense_Mutation_p.N391S|ZC3H14_ENST00000302216.8_Missense_Mutation_p.N425S|ZC3H14_ENST00000393514.5_Missense_Mutation_p.N425S|ZC3H14_ENST00000555755.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000556945.1_Missense_Mutation_p.N425S|ZC3H14_ENST00000557607.1_Missense_Mutation_p.N270S|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000336693.4_Missense_Mutation_p.N391S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	425						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GTAGAAAAAAATCAAGGTAAT	0.343													False	0	True	14:89044479	0	G	89044479	A	G	89044479	3	3	88	1	0	0	0	0	1	0	0	0	17649	101	4	4	1308	4	ZC3H14	14	89044479	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5270	89044479	18305061	14363	22075											
EML5	161436	broad.mit.edu	37	chr14	89083140	89083140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctgtaacaagactgattCctgaatgagatacacaggca	8	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89083140C>T	ENST00000554922.1	-	42	5974	c.5726G>A	c.(5725-5727)gGa>gAa	p.G1909E	EML5_ENST00000380664.5_Missense_Mutation_p.G1901E|EML5_ENST00000352093.5_Missense_Mutation_p.G1863E	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1901						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGACTGATTCCTGAATGAGA	0.393													False	0	False	14:89083140	0	T	89083140	C	T	89083140	3	4	88	1	0	0	0	0	1	0	0	0	5132	855	30	2	219	2	EML5	14	89083140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38661	89083140	18266400	14364	22076											
EML5	161436	broad.mit.edu	37	chr14	89171223	89171223	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccgtgaacaaagtgtaatcGaatactatttcctggagccc	8	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89171223G>A	ENST00000554922.1	-	13	2280	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	EML5_ENST00000380664.5_Nonsense_Mutation_p.R678*|EML5_ENST00000352093.5_Nonsense_Mutation_p.R678*	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	678						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGTGTAATCGAATACTATTT	0.343													False	0	False	14:89171223	0	A	89171223	G	A	89171223	4	1	88	1	0	0	0	0	0	1	0	0	5132	1066	37	1	4025	1	EML5	14	89171223	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88083	89171223	18178317	14365	22077											
TTC8	123016	broad.mit.edu	37	chr14	89300058	89300058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccagatcctgaattgccaGtgcatcaggtaaagaaaggt	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89300058G>A	ENST00000380656.2	+	2	182	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	TTC8_ENST00000346301.4_Intron|TTC8_ENST00000345383.5_Intron|TTC8_ENST00000338104.6_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000354441.6_Intron	NM_144596.2	NP_653197.2	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	46			Missing (in RP51).		cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGAATTGCCAGTGCATCAGGT	0.343													False	0	False	14:89300058	0	A	89300058	G	A	89300058	3	1	88	1	0	0	0	0	1	0	0	0	16798	1029	36	2	142	2	TTC8	14	89300058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128835	89300058	18049482	14366	22078											
TTC8	123016	broad.mit.edu	37	chr14	89307480	89307480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggctatcagaacacccagAaccgcctacacagcccgccc	7	19	1	2	rs141439453	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89307480A>C	ENST00000338104.6	+	4	451	c.399A>C	c.(397-399)agA>agC	p.R133S	TTC8_ENST00000346301.4_Missense_Mutation_p.R133S|TTC8_ENST00000345383.5_Missense_Mutation_p.R133S|TTC8_ENST00000380656.2_Missense_Mutation_p.R143S|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000354441.6_Intron			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	143					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GAACACCCAGAACCGCCTACA	0.532													False	0	False	14:89307480	0	C	89307480	A	C	89307480	3	2	88	1	0	0	0	0	1	0	0	0	16798	243	9	4	447	4	TTC8	14	89307480	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7422	89307480	18042060	14367	22079											
TTC8	123016	broad.mit.edu	37	chr14	89343705	89343705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcatttccagaccatgtggAcacacaacatttaattaaac	5	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89343705A>G	ENST00000338104.6	+	15	1599	c.1547A>G	c.(1546-1548)gAc>gGc	p.D516G	TTC8_ENST00000346301.4_Missense_Mutation_p.D460G|TTC8_ENST00000345383.5_Missense_Mutation_p.D490G|TTC8_ENST00000358622.5_Missense_Mutation_p.D302G|TTC8_ENST00000380656.2_Missense_Mutation_p.D500G|TTC8_ENST00000536576.1_Missense_Mutation_p.D261G|TTC8_ENST00000354441.6_Missense_Mutation_p.D235G			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	526					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GACCATGTGGACACACAACAT	0.398													False	0	True	14:89343705	0	G	89343705	A	G	89343705	3	3	88	1	0	0	0	0	1	0	0	0	16798	275	10	4	1557	4	TTC8	14	89343705	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36225	89343705	18005835	14368	22080											
TDP1	55775	broad.mit.edu	37	chr14	90485729	90485729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgatgatccgctcctaCgagctcggggtccttttcct	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90485729C>T	ENST00000335725.4	+	15	1861	c.1611C>T	c.(1609-1611)taC>taT	p.Y537Y	TDP1_ENST00000357382.3_Silent_p.Y298Y|TDP1_ENST00000555880.1_Silent_p.Y537Y|TDP1_ENST00000393454.2_Silent_p.Y537Y|TDP1_ENST00000393452.3_Silent_p.Y537Y	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	537					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCCGCTCCTACGAGCTCGGGG	0.527								Repair of DNA-protein crosslinks					False	0	False	14:90485729	0	T	90485729	C	T	90485729	2	4	88	1	0	0	0	0	0	0	0	1	15810	547	19	1		1	TDP1	14	90485729	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1142024	90485729	16863811	14369	22081											
KCNK13	56659	broad.mit.edu	37	chr14	90650476	90650476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgggatgacaactccggCgacagtaggaggaaaaatct	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90650476C>T	ENST00000282146.4	+	2	797	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	119						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACAACTCCGGCGACAGTAGGA	0.483													False	0	False	14:90650476	0	T	90650476	C	T	90650476	3	4	88	1	0	0	0	0	1	0	0	0	8111	768	27	1	362	1	KCNK13	14	90650476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164747	90650476	16699064	14370	22082											
KCNK13	56659	broad.mit.edu	37	chr14	90650750	90650750	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctccatcctcatctcttgCtgcgcctcagccatgtacac	6	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90650750C>A	ENST00000282146.4	+	2	1071	c.630C>A	c.(628-630)tgC>tgA	p.C210*		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	210						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCATCTCTTGCTGCGCCTCAG	0.567													False	0	False	14:90650750	0	A	90650750	C	A	90650750	4	1	88	1	0	0	0	0	0	1	0	0	8111	805	28	3	636	3	KCNK13	14	90650750	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274	90650750	16698790	14371	22083											
KCNK13	56659	broad.mit.edu	37	chr14	90651173	90651173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgatctccatgaaggaCttgctggcagccaacaaggc	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90651173C>T	ENST00000282146.4	+	2	1494	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	351						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCATGAAGGACTTGCTGGCAG	0.627													False	0	False	14:90651173	0	T	90651173	C	T	90651173	2	4	88	1	0	0	0	0	0	0	0	1	8111	564	20	2		2	KCNK13	14	90651173	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423	90651173	16698367	14372	22084											
PSMC1	5700	broad.mit.edu	37	chr14	90735847	90735847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgtgaaagttatcatgGccacaaaccgaatagaaact	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90735847G>A	ENST00000261303.8	+	9	1091	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	PSMC1_ENST00000543772.2_Missense_Mutation_p.A257T	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		AGTTATCATGGCCACAAACCG	0.388													False	0	False	14:90735847	0	A	90735847	G	A	90735847	3	1	88	1	0	0	0	0	1	0	0	0	12761	1203	42	2	1022	2	PSMC1	14	90735847	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84674	90735847	16613693	14373	22085											
TTC7B	145567	broad.mit.edu	37	chr14	91044542	91044542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catgcttccccggagctcagCaatctggccgcgcatgtaga	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91044542C>A	ENST00000357056.2	-	20	2390	c.2269G>T	c.(2269-2271)Gct>Tct	p.A757S	TTC7B_ENST00000328459.6_Missense_Mutation_p.A740S|TTC7B_ENST00000554654.1_5'UTR			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	740							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CGGAGCTCAGCAATCTGGCCG	0.602													False	0	False	14:91044542	0	A	91044542	C	A	91044542	3	1	88	1	0	0	0	0	1	0	0	0	16797	710	25	3	321	3	TTC7B	14	91044542	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	308695	91044542	16304998	14374	22086											
TTC7B	145567	broad.mit.edu	37	chr14	91211192	91211192	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctttctcataacaggTgatgacatcctgttcccggt	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91211192T>G	ENST00000357056.2	-	4	641	c.520A>C	c.(520-522)Acc>Ccc	p.T174P	TTC7B_ENST00000328459.6_Missense_Mutation_p.T174P			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	174							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCATAACAGGTGATGACATCC	0.428													False	0	False	14:91211192	0	G	91211192	T	G	91211192	3	3	88	1	0	0	0	0	1	0	0	0	16797	1696	59	4	2079	4	TTC7B	14	91211192	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	166650	91211192	16138348	14375	22087											
RPS6KA5	9252	broad.mit.edu	37	chr14	91338562	91338562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcactggaactgctgcgCgtctcggtactggtgctagt	12	12	2	0	rs144832163		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91338562C>T	ENST00000261991.3	-	17	2438	c.2265G>A	c.(2263-2265)acG>acA	p.T755T	RPS6KA5_ENST00000536315.2_Silent_p.T676T	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	755					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AACTGCTGCGCGTCTCGGTAC	0.473													False	0	False	14:91338562	0	T	91338562	C	T	91338562	2	4	88	1	0	0	0	0	0	0	0	1	13733	755	27	1		1	RPS6KA5	14	91338562	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127370	91338562	16010978	14376	22088											
RPS6KA5	9252	broad.mit.edu	37	chr14	91360773	91360773	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacctcaggtttcagatccCtgtgcaccactccaacatca	5	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91360773C>A	ENST00000261991.3	-	13	1801	c.1628G>T	c.(1627-1629)aGg>aTg	p.R543M	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R543M|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R464M	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	543	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTTCAGATCCCTGTGCACCAC	0.438													False	0	True	14:91360773	0	A	91360773	C	A	91360773	3	1	88	1	0	0	0	0	1	0	0	0	13733	681	24	3	806	3	RPS6KA5	14	91360773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22211	91360773	15988767	14377	22089											
RPS6KA5	9252	broad.mit.edu	37	chr14	91526692	91526692	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccagtccgcagctcgtgCttgacagtgaggagctgctc	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91526692C>T	ENST00000261991.3	-	1	260	c.87G>A	c.(85-87)aaG>aaA	p.K29K	RPS6KA5_ENST00000418736.2_Silent_p.K29K	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	29					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCAGCTCGTGCTTGACAGTGA	0.761													False	0	False	14:91526692	0	T	91526692	C	T	91526692	2	4	88	1	0	0	0	0	0	0	0	1	13733	796	28	2		2	RPS6KA5	14	91526692	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165919	91526692	15822848	14378	22090											
CCDC88C	440193	broad.mit.edu	37	chr14	91749816	91749816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcatctgtgcggtcaaggCtgcctctgtgtggggagcct	16	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91749816C>A	ENST00000389857.6	-	26	4573	c.4487G>T	c.(4486-4488)aGc>aTc	p.S1496I	CCDC88C_ENST00000331194.7_Missense_Mutation_p.S20I	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1496					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCGGTCAAGGCTGCCTCTGTG	0.607													False	0	False	14:91749816	0	A	91749816	C	A	91749816	3	1	88	1	0	0	0	0	1	0	0	0	2886	797	28	3	1619	3	CCDC88C	14	91749816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	223124	91749816	15599724	14379	22091											
CCDC88C	440193	broad.mit.edu	37	chr14	91755667	91755667	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagtttgactaaggctttgGctccaatccagtggttcttc	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91755667G>T	ENST00000389857.6	-	25	4309	c.4223C>A	c.(4222-4224)gCc>gAc	p.A1408D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1408					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TAAGGCTTTGGCTCCAATCCA	0.537													False	0	False	14:91755667	0	T	91755667	G	T	91755667	3	4	88	1	0	0	0	0	1	0	0	0	2886	1203	42	3	1887	3	CCDC88C	14	91755667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5851	91755667	15593873	14380	22092											
CCDC88C	440193	broad.mit.edu	37	chr14	91763825	91763825	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccttcagctggtggtgcaGgaaattgaccctggaggagg	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91763825G>T	ENST00000389857.6	-	22	3876	c.3790C>A	c.(3790-3792)Ctg>Atg	p.L1264M		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1264					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGGTGGTGCAGGAAATTGACC	0.587													False	0	False	14:91763825	0	T	91763825	G	T	91763825	3	4	88	1	0	0	0	0	1	0	0	0	2886	991	35	3	2332	3	CCDC88C	14	91763825	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8158	91763825	15585715	14381	22093											
CCDC88C	440193	broad.mit.edu	37	chr14	91766410	91766410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcgcttcagcatgtcacCgtgcctgttggagggaagca	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91766410C>T	ENST00000389857.6	-	21	3726	c.3640G>A	c.(3640-3642)Ggt>Agt	p.G1214S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1214					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCATGTCACCGTGCCTGTTG	0.617													False	0	False	14:91766410	0	T	91766410	C	T	91766410	3	4	88	1	0	0	0	0	1	0	0	0	2886	652	23	1	2486	1	CCDC88C	14	91766410	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2585	91766410	15583130	14382	22094											
CCDC88C	440193	broad.mit.edu	37	chr14	91770280	91770280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcagcgtgtactgcgCggtgagcgctgcgctctggg	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91770280C>T	ENST00000389857.6	-	20	3486	c.3400G>A	c.(3400-3402)Gcg>Acg	p.A1134T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1134					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTGTACTGCGCGGTGAGCGCT	0.662													False	0	False	14:91770280	0	T	91770280	C	T	91770280	3	4	88	1	0	0	0	0	1	0	0	0	2886	768	27	1	2730	1	CCDC88C	14	91770280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3870	91770280	15579260	14383	22095											
CCDC88C	440193	broad.mit.edu	37	chr14	91774720	91774720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctcactctctaactggCgatttaggctcgctttctct	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91774720C>T	ENST00000389857.6	-	17	3067	c.2981G>A	c.(2980-2982)cGc>cAc	p.R994H		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	994					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCTAACTGGCGATTTAGGCT	0.493													False	0	False	14:91774720	0	T	91774720	C	T	91774720	3	4	88	1	0	0	0	0	1	0	0	0	2886	768	27	1	3161	1	CCDC88C	14	91774720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4440	91774720	15574820	14384	22096											
CCDC88C	440193	broad.mit.edu	37	chr14	91780320	91780320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtccctgtgcagctgccGcttctcaaactccaactggc	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91780320G>A	ENST00000389857.6	-	15	1926	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	614					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCAGCTGCCGCTTCTCAAAC	0.612													False	0	False	14:91780320	0	A	91780320	G	A	91780320	3	1	88	1	0	0	0	0	1	0	0	0	2886	1086	38	1	4310	1	CCDC88C	14	91780320	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5600	91780320	15569220	14385	22097											
CCDC88C	440193	broad.mit.edu	37	chr14	91804434	91804434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcctctccacgcggttcGccttctcccgcagggaatcc	9	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91804434G>A	ENST00000389857.6	-	10	1051	c.965C>T	c.(964-966)gCg>gTg	p.A322V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	322					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CACGCGGTTCGCCTTCTCCCG	0.622													False	0	False	14:91804434	0	A	91804434	G	A	91804434	3	1	88	1	0	0	0	0	1	0	0	0	2886	1087	38	1	5205	1	CCDC88C	14	91804434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24114	91804434	15545106	14386	22098											
CCDC88C	440193	broad.mit.edu	37	chr14	91805638	91805638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagctcctgcctgacgcGccgcagcctggccttggtgt	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91805638G>A	ENST00000389857.6	-	8	879	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	265					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCCTGACGCGCCGCAGCCTG	0.627													False	0	False	14:91805638	0	A	91805638	G	A	91805638	3	1	88	1	0	0	0	0	1	0	0	0	2886	1087	38	1	5385	1	CCDC88C	14	91805638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1204	91805638	15543902	14387	22099											
SMEK1	55671	broad.mit.edu	37	chr14	91929101	91929101	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagtttgggattatcttGcctttctctttgttgttcaa	8	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91929101G>A	ENST00000554684.1	-	12	2408	c.1912C>T	c.(1912-1914)Caa>Taa	p.Q638*	SMEK1_ENST00000554943.1_Nonsense_Mutation_p.Q651*|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000337238.4_Nonsense_Mutation_p.Q638*|SMEK1_ENST00000428424.2_Nonsense_Mutation_p.Q412*|SMEK1_ENST00000555462.1_Nonsense_Mutation_p.Q412*	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	651						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GGATTATCTTGCCTTTCTCTT	0.313													False	0	False	14:91929101	0	A	91929101	G	A	91929101	4	1	88	1	0	0	0	0	0	1	0	0	14873	1328	46	2	566	2	SMEK1	14	91929101	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	123463	91929101	15420439	14388	22100											
SMEK1	55671	broad.mit.edu	37	chr14	91937229	91937229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cataagaactagcactctccGgaggatatccttattaataa	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91937229G>A	ENST00000554684.1	-	10	2069	c.1573C>T	c.(1573-1575)Cgg>Tgg	p.R525W	SMEK1_ENST00000554943.1_Missense_Mutation_p.R538W|SMEK1_ENST00000337238.4_Missense_Mutation_p.R525W|SMEK1_ENST00000428424.2_Missense_Mutation_p.R299W|SMEK1_ENST00000555462.1_Missense_Mutation_p.R299W	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	538						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AGCACTCTCCGGAGGATATCC	0.358													False	0	False	14:91937229	0	A	91937229	G	A	91937229	3	1	88	1	0	0	0	0	1	0	0	0	14873	1115	39	1	913	1	SMEK1	14	91937229	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8128	91937229	15412311	14389	22101											
CATSPERB	79820	broad.mit.edu	37	chr14	92159477	92159477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaatttacataccgataagCtgtggcgtgatggataacga	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92159477C>A	ENST00000256343.3	-	9	980	c.824G>T	c.(823-825)aGc>aTc	p.S275I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	275					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TACCGATAAGCTGTGGCGTGA	0.333													False	0	False	14:92159477	0	A	92159477	C	A	92159477	3	1	88	1	0	0	0	0	1	0	0	0	2711	797	28	3	2602	3	CATSPERB	14	92159477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222248	92159477	15190063	14390	22102											
TC2N	123036	broad.mit.edu	37	chr14	92280104	92280104	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acagcaactctttataaattCtgttgccattacattcaatt	3	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92280104C>T	ENST00000435962.2	-	2	333	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	TC2N_ENST00000340892.5_Missense_Mutation_p.E4K|TC2N_ENST00000556018.1_Missense_Mutation_p.E4K|TC2N_ENST00000360594.5_Missense_Mutation_p.E4K	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	4						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTTATAAATTCTGTTGCCATT	0.323													False	0	False	14:92280104	0	T	92280104	C	T	92280104	3	4	88	1	0	0	0	0	1	0	0	0	15747	922	32	2	1506	2	TC2N	14	92280104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120627	92280104	15069436	14391	22103											
FBLN5	10516	broad.mit.edu	37	chr14	92347762	92347762	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcacattcgttgatgTctgaaatgcaggggagacaa	12	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92347762T>G	ENST00000267620.10	-	10	1155	c.986A>C	c.(985-987)gAc>gCc	p.D329A	FBLN5_ENST00000342058.4_Splice_Site_p.D288A|FBLN5_ENST00000556154.1_Splice_Site_p.D293A			Q9UBX5	FBLN5_HUMAN	fibulin 5	288	EGF-like 6; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TTCGTTGATGTCTGAAATGCA	0.542													False	0	False	14:92347762	0	G	92347762	T	G	92347762	5	3	88	1	0	0	0	0	0	0	1	0	5740	1681	58	4	495	4	FBLN5	14	92347762	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	67658	92347762	15001778	14392	22104											
FBLN5	10516	broad.mit.edu	37	chr14	92353550	92353550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattaccactgcaatgaacGccatcttcctcaagttcata	4	14	3	1	rs148209555		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92353550G>A	ENST00000267620.10	-	8	1018	c.849C>T	c.(847-849)ggC>ggT	p.G283G	FBLN5_ENST00000342058.4_Silent_p.G242G|FBLN5_ENST00000556154.1_Silent_p.G247G			Q9UBX5	FBLN5_HUMAN	fibulin 5	242	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.G242G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGCAATGAACGCCATCTTCCT	0.547													False	0	False	14:92353550	0	A	92353550	G	A	92353550	2	1	88	1	0	0	0	0	0	0	0	1	5740	1074	38	1		1	FBLN5	14	92353550	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5788	92353550	14995990	14393	22105											
TRIP11	9321	broad.mit.edu	37	chr14	92465608	92465608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattttccattgcattagagGatgaaactagcttttcctcc	6	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92465608G>A	ENST00000267622.4	-	13	5241	c.4868C>T	c.(4867-4869)tCc>tTc	p.S1623F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1623					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGCATTAGAGGATGAAACTAG	0.328			T	PDGFRB	AML								False	0	False	14:92465608	0	A	92465608	G	A	92465608	3	1	88	1	0	0	0	0	1	0	0	0	16638	1174	41	2	1107	2	TRIP11	14	92465608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112058	92465608	14883932	14394	22106											
TRIP11	9321	broad.mit.edu	37	chr14	92470112	92470112	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagtaacttttgcaaaacaTcttgtttctcctttagctgc	5	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92470112T>C	ENST00000267622.4	-	11	4581	c.4208A>G	c.(4207-4209)gAt>gGt	p.D1403G		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1403					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGCAAAACATCTTGTTTCTC	0.353			T	PDGFRB	AML								False	0	False	14:92470112	0	C	92470112	T	C	92470112	3	2	88	1	0	0	0	0	1	0	0	0	16638	1435	50	4	1775	4	TRIP11	14	92470112	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4504	92470112	14879428	14395	22107											
NDUFB1	4707	broad.mit.edu	37	chr14	92588068	92588068	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggaagctgcgacctcggGacctgccattcgccgcgccc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92588068G>A	ENST00000329559.3	-	1	193	c.54C>T	c.(52-54)gtC>gtT	p.V18V	NDUFB1_ENST00000553514.1_5'UTR|NDUFB1_ENST00000605997.1_5'UTR	NM_004545.3	NP_004536.2	O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)	GCGACCTCGGGACCTGCCATT	0.597													False	0	True	14:92588068	0	A	92588068	G	A	92588068	2	1	88	1	0	0	0	0	0	0	0	1	10346	1161	41	2		2	NDUFB1	14	92588068	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117956	92588068	14761472	14396	22108											
CPSF2	53981	broad.mit.edu	37	chr14	92608558	92608558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaatgtgttaatagcagtgGacacagcaggcagagttttg	13	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92608558G>A	ENST00000298875.4	+	8	997	c.712G>A	c.(712-714)Gac>Aac	p.D238N		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	238					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AATAGCAGTGGACACAGCAGG	0.398													False	0	False	14:92608558	0	A	92608558	G	A	92608558	3	1	88	1	0	0	0	0	1	0	0	0	3848	1174	41	2	734	2	CPSF2	14	92608558	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20490	92608558	14740982	14397	22109											
CPSF2	53981	broad.mit.edu	37	chr14	92609433	92609433	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgccatctctctttatgtcAtggtctttctgacttggccc	7	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92609433A>G	ENST00000298875.4	+	9	1220	c.935A>G	c.(934-936)cAt>cGt	p.H312R		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	312					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TCTTTATGTCATGGTCTTTCT	0.428													False	0	False	14:92609433	0	G	92609433	A	G	92609433	3	3	88	1	0	0	0	0	1	0	0	0	3848	217	8	4	961	4	CPSF2	14	92609433	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	875	92609433	14740107	14398	22110											
CPSF2	53981	broad.mit.edu	37	chr14	92620736	92620736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttgaagggaaagaacTtgaagaatacttggaaaaag	12	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92620736T>C	ENST00000298875.4	+	10	1460	c.1175T>C	c.(1174-1176)cTt>cCt	p.L392P		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	392					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGGAAAGAACTTGAAGAATAC	0.328													False	0	False	14:92620736	0	C	92620736	T	C	92620736	3	2	88	1	0	0	0	0	1	0	0	0	3848	1609	56	4	1205	4	CPSF2	14	92620736	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11303	92620736	14728804	14399	22111											
SLC24A4	123041	broad.mit.edu	37	chr14	92790300	92790300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccggcctcttcggcagCttgggtgggtgctggtacgg	18	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92790300C>A	ENST00000532405.1	+	1	352	c.126C>A	c.(124-126)agC>agA	p.S42R	SLC24A4_ENST00000298877.1_Missense_Mutation_p.S25R|SLC24A4_ENST00000351924.5_Missense_Mutation_p.S25R|SLC24A4_ENST00000531433.1_Missense_Mutation_p.S42R|SLC24A4_ENST00000393265.2_Intron			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	42						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TCTTCGGCAGCTTGGGTGGGT	0.657													False	0	False	14:92790300	0	A	92790300	C	A	92790300	3	1	88	1	0	0	0	0	1	0	0	0	14548	796	28	3	77	3	SLC24A4	14	92790300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169564	92790300	14559240	14400	22112											
SLC24A4	123041	broad.mit.edu	37	chr14	92909751	92909751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgctggcaggtggtccGtctgacgtggtgggccgtgt	18	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92909751G>A	ENST00000532405.1	+	7	816	c.590G>A	c.(589-591)cGt>cAt	p.R197H	SLC24A4_ENST00000298877.1_Missense_Mutation_p.R180H|SLC24A4_ENST00000351924.5_Missense_Mutation_p.R180H|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R197H|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R133H			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	197						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CAGGTGGTCCGTCTGACGTGG	0.657													False	0	False	14:92909751	0	A	92909751	G	A	92909751	3	1	88	1	0	0	0	0	1	0	0	0	14548	1145	40	1	565	1	SLC24A4	14	92909751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119451	92909751	14439789	14401	22113											
RIN3	79890	broad.mit.edu	37	chr14	93118417	93118417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgcccatgatgacctgCgagagactcccatgccccac	9	18	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93118417C>T	ENST00000216487.7	+	6	1182	c.1023C>T	c.(1021-1023)tgC>tgT	p.C341C	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	341	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TGATGACCTGCGAGAGACTCC	0.697													False	0	True	14:93118417	0	T	93118417	C	T	93118417	2	4	88	1	0	0	0	0	0	0	0	1	13452	776	27	1		1	RIN3	14	93118417	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208666	93118417	14231123	14402	22114											
RIN3	79890	broad.mit.edu	37	chr14	93119069	93119069	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagcacggaggaggagCtggagcagttcagcagcccc	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93119069C>A	ENST00000216487.7	+	6	1834	c.1675C>A	c.(1675-1677)Ctg>Atg	p.L559M	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	559					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGAGGAGGAGCTGGAGCAGTT	0.612													False	0	True	14:93119069	0	A	93119069	C	A	93119069	3	1	88	1	0	0	0	0	1	0	0	0	13452	796	28	3	1697	3	RIN3	14	93119069	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	652	93119069	14230471	14403	22115											
GOLGA5	9950	broad.mit.edu	37	chr14	93282689	93282689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcatggagctggaagaacttCggcatgagaaagagatgcag	15	6	0	3	rs34964124		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93282689C>T	ENST00000163416.2	+	7	1670	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R472W	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	472					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GGAAGAACTTCGGCATGAGAA	0.443			T	RET	papillary thyroid								False	0	False	14:93282689	0	T	93282689	C	T	93282689	3	4	88	1	0	0	0	0	1	0	0	0	6601	875	31	1	1436	1	GOLGA5	14	93282689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163620	93282689	14066851	14404	22116											
CHGA	1113	broad.mit.edu	37	chr14	93390551	93390551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcttcccagtcactgcGctccctgtgaacagccctat	6	16	3	1	rs9658640		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93390551G>A	ENST00000216492.5	+	2	334	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CHGA_ENST00000334654.4_Silent_p.A18A|CHGA_ENST00000553866.1_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	18					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGTCACTGCGCTCCCTGTGA	0.582													False	0	False	14:93390551	0	A	93390551	G	A	93390551	2	1	88	1	0	0	0	0	0	0	0	1	3361	1074	38	1		1	CHGA	14	93390551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107862	93390551	13958989	14405	22117											
CHGA	1113	broad.mit.edu	37	chr14	93399081	93399081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctgggccgcagctgcgacGaggctggaggccatcctccc	14	17	0	0	rs9658669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93399081G>A	ENST00000216492.5	+	7	1455	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	CHGA_ENST00000334654.4_Missense_Mutation_p.R241Q	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	392					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGCTGCGACGAGGCTGGAGG	0.697													False	0	False	14:93399081	0	A	93399081	G	A	93399081	3	1	88	1	0	0	0	0	1	0	0	0	3361	1058	37	1	1201	1	CHGA	14	93399081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8530	93399081	13950459	14406	22118											
UBR7	55148	broad.mit.edu	37	chr14	93678410	93678410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaattctggcaataagtaCaatgacaacttttttggatt	7	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93678410C>T	ENST00000013070.6	+	4	614	c.378C>T	c.(376-378)taC>taT	p.Y126Y	UBR7_ENST00000416753.1_Silent_p.Y50Y|RP11-371E8.4_ENST00000557048.1_3'UTR|RP11-371E8.4_ENST00000557574.1_Silent_p.Y145Y	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	126							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GCAATAAGTACAATGACAACT	0.328													False	0	False	14:93678410	0	T	93678410	C	T	93678410	2	4	88	1	0	0	0	0	0	0	0	1	16990	489	17	2		2	UBR7	14	93678410	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279329	93678410	13671130	14407	22119											
BTBD7	55727	broad.mit.edu	37	chr14	93712552	93712552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaggtgtactgtttacGcgacatctcccaggctgtct	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93712552G>A	ENST00000334746.5	-	10	2509	c.2202C>T	c.(2200-2202)cgC>cgT	p.R734R	BTBD7_ENST00000554565.1_Silent_p.R383R|BTBD7_ENST00000393170.2_Silent_p.R308R	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	734										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TACTGTTTACGCGACATCTCC	0.468													False	0	False	14:93712552	0	A	93712552	G	A	93712552	2	1	88	1	0	0	0	0	0	0	0	1	1553	1074	38	1		1	BTBD7	14	93712552	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34142	93712552	13636988	14408	22120											
BTBD7	55727	broad.mit.edu	37	chr14	93730244	93730244	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaaatgtaaagcttgtcGgtgcacccatttagagccat	11	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93730244G>A	ENST00000334746.5	-	4	1565	c.1258C>T	c.(1258-1260)Cga>Tga	p.R420*	BTBD7_ENST00000554565.1_Nonsense_Mutation_p.R69*|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	420										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAAGCTTGTCGGTGCACCCAT	0.428													False	0	False	14:93730244	0	A	93730244	G	A	93730244	4	1	88	1	0	0	0	0	0	1	0	0	1553	1124	39	1	2172	1	BTBD7	14	93730244	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17692	93730244	13619296	14409	22121											
COX8C	341947	broad.mit.edu	37	chr14	93814406	93814406	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacttgtggtgttttttacGaccttcttaacaccagctgc	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93814406G>A	ENST00000342144.2	+	2	237	c.159G>A	c.(157-159)acG>acA	p.T53T	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	53						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	p.T53T(1)		large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TGTTTTTTACGACCTTCTTAA	0.453													False	0	False	14:93814406	0	A	93814406	G	A	93814406	2	1	88	1	0	0	0	0	0	0	0	1	3809	1045	37	1		1	COX8C	14	93814406	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84162	93814406	13535134	14410	22122											
PRIMA1	145270	broad.mit.edu	37	chr14	94187802	94187802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagactcacaccactgcGttgttcacgtctactccttt	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94187802G>A	ENST00000393140.1	-	5	552	c.450C>T	c.(448-450)aaC>aaT	p.N150N	PRIMA1_ENST00000393143.1_Silent_p.N150N|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	150					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		ACACCACTGCGTTGTTCACGT	0.557													False	0	False	14:94187802	0	A	94187802	G	A	94187802	2	1	88	1	0	0	0	0	0	0	0	1	12568	1136	40	1		1	PRIMA1	14	94187802	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	373396	94187802	13161738	14411	22123											
FAM181A	90050	broad.mit.edu	37	chr14	94395237	94395237	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccgctcaagatgcctggggtCtccttggtgggccgcgtcaa	14	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94395237C>A	ENST00000267594.5	+	3	1099	c.792C>A	c.(790-792)gtC>gtA	p.V264V	FAM181A_ENST00000557000.2_Silent_p.V202V|FAM181A_ENST00000556222.1_Silent_p.V202V|FAM181A_ENST00000557719.1_Silent_p.V202V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	264										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGCCTGGGGTCTCCTTGGTGG	0.622													False	0	False	14:94395237	0	A	94395237	C	A	94395237	2	1	88	1	0	0	0	0	0	0	0	1	5544	900	32	3		3	FAM181A	14	94395237	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207435	94395237	12954303	14412	22124											
ASB2	51676	broad.mit.edu	37	chr14	94417504	94417504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacacagactcgtgcagagCggtccagccgcggttgcagc	14	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94417504C>T	ENST00000555019.1	-	6	1151	c.721G>A	c.(721-723)Gct>Act	p.A241T	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.A193T	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	193					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TCGTGCAGAGCGGTCCAGCCG	0.622													False	0	False	14:94417504	0	T	94417504	C	T	94417504	3	4	88	1	0	0	0	0	1	0	0	0	1027	768	27	1	1206	1	ASB2	14	94417504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22267	94417504	12932036	14413	22125											
ASB2	51676	broad.mit.edu	37	chr14	94417571	94417571	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagaatcttcacggcctcCgcgttcttgcgctcgcaggc	10	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94417571C>T	ENST00000555019.1	-	6	1084	c.654G>A	c.(652-654)gcG>gcA	p.A218A	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Silent_p.A170A	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	170					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TCACGGCCTCCGCGTTCTTGC	0.622													False	0	False	14:94417571	0	T	94417571	C	T	94417571	2	4	88	1	0	0	0	0	0	0	0	1	1027	639	23	1		1	ASB2	14	94417571	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	94417571	12931969	14414	22126											
ASB2	51676	broad.mit.edu	37	chr14	94419708	94419708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacctcacctttgtagagCggtgtctctcgggatttgtt	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94419708C>T	ENST00000555019.1	-	5	1054	c.624G>A	c.(622-624)ccG>ccA	p.P208P	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Silent_p.P160P	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	160					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTTTGTAGAGCGGTGTCTCTC	0.572													False	0	False	14:94419708	0	T	94419708	C	T	94419708	2	4	88	1	0	0	0	0	0	0	0	1	1027	755	27	1		1	ASB2	14	94419708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2137	94419708	12929832	14415	22127											
DDX24	57062	broad.mit.edu	37	chr14	94526811	94526811	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaaggattcgagcaggagCctgatgcaccagggtgagtg	16	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94526811C>A	ENST00000330836.5	-	5	1677	c.1546G>T	c.(1546-1548)Gct>Tct	p.A516S	DDX24_ENST00000555054.1_Missense_Mutation_p.A473S|DDX24_ENST00000544005.1_Missense_Mutation_p.A266S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	516	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CGAGCAGGAGCCTGATGCACC	0.473													False	0	False	14:94526811	0	A	94526811	C	A	94526811	3	1	88	1	0	0	0	0	1	0	0	0	4376	739	26	3	1053	3	DDX24	14	94526811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107103	94526811	12822729	14416	22128											
DDX24	57062	broad.mit.edu	37	chr14	94545647	94545647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttttggagcagtttggaCcaggttttctgatgtcatct	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94545647C>T	ENST00000330836.5	-	2	573	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	DDX24_ENST00000555054.1_Missense_Mutation_p.V105I|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	148					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GCAGTTTGGACCAGGTTTTCT	0.473													False	0	False	14:94545647	0	T	94545647	C	T	94545647	3	4	88	1	0	0	0	0	1	0	0	0	4376	507	18	2	2169	2	DDX24	14	94545647	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18836	94545647	12803893	14417	22129											
IFI27L1	122509	broad.mit.edu	37	chr14	94568225	94568225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctcagtaggaatcgccGcatcctccatagcagccaag	8	15	2	0	rs148533447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94568225G>A	ENST00000556381.1	+	5	459	c.124G>A	c.(124-126)Gca>Aca	p.A42T	IFI27L1_ENST00000555523.1_Missense_Mutation_p.A43T|IFI27L1_ENST00000393115.3_Missense_Mutation_p.A43T|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.R65H|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.A43T			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	43						integral to membrane				lung(2)	2						AGGAATCGCCGCATCCTCCAT	0.597													False	0	False	14:94568225	0	A	94568225	G	A	94568225	3	1	88	1	0	0	0	0	1	0	0	0	7563	1087	38	1	137	1	IFI27L1	14	94568225	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22578	94568225	12781315	14418	22130											
IFI27	3429	broad.mit.edu	37	chr14	94582203	94582203	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcgtcctccatagcagccaaGatgatgtccgcggcggccat	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94582203G>T	ENST00000555744.1	+	4	386	c.198G>T	c.(196-198)aaG>aaT	p.K66N	IFI27_ENST00000298902.5_Missense_Mutation_p.K66N|IFI27_ENST00000557634.1_Missense_Mutation_p.K56N|IFI27_ENST00000557098.1_Missense_Mutation_p.K21N|IFI27_ENST00000444961.1_Missense_Mutation_p.K69N|IFI27_ENST00000448882.1_Missense_Mutation_p.K69N			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	66					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TAGCAGCCAAGATGATGTCCG	0.627													False	0	False	14:94582203	0	T	94582203	G	T	94582203	3	4	88	1	0	0	0	0	1	0	0	0	7562	933	33	3	208	3	IFI27	14	94582203	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13978	94582203	12767337	14419	22131											
PPP4R4	57718	broad.mit.edu	37	chr14	94711935	94711935	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaaaggtactagatgcTcttatagatcatcttccaga	7	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94711935T>A	ENST00000304338.3	+	13	1510	c.1356T>A	c.(1354-1356)gcT>gcA	p.A452A		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	452						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TACTAGATGCTCTTATAGATC	0.313													False	0	False	14:94711935	0	A	94711935	T	A	94711935	2	1	88	1	0	0	0	0	0	0	0	1	12479	1538	54	5		5	PPP4R4	14	94711935	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	129732	94711935	12637605	14420	22132											
PPP4R4	57718	broad.mit.edu	37	chr14	94725670	94725670	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagatttgttggatcaAgagaaagaaagagaagaact	12	2	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94725670A>C	ENST00000304338.3	+	19	2245	c.2091A>C	c.(2089-2091)caA>caC	p.Q697H		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	697						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGTTGGATCAAGAGAAAGAAA	0.274													False	0	False	14:94725670	0	C	94725670	A	C	94725670	3	2	88	1	0	0	0	0	1	0	0	0	12479	69	3	4	2238	4	PPP4R4	14	94725670	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13735	94725670	12623870	14421	22133											
SERPINA10	51156	broad.mit.edu	37	chr14	94756575	94756575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgatctgggtttcagtcGgccctgtggcccccagcatc	11	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94756575G>A	ENST00000554723.1	-	2	894	c.476C>T	c.(475-477)cCg>cTg	p.P159L	SERPINA10_ENST00000261994.4_Missense_Mutation_p.P119L|SERPINA10_ENST00000393096.1_Missense_Mutation_p.P119L|SERPINA10_ENST00000554173.1_Missense_Mutation_p.P119L			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	119					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTTTCAGTCGGCCCTGTGGC	0.587													False	0	False	14:94756575	0	A	94756575	G	A	94756575	3	1	88	1	0	0	0	0	1	0	0	0	14168	1116	39	1	994	1	SERPINA10	14	94756575	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30905	94756575	12592965	14422	22134											
SERPINA6	866	broad.mit.edu	37	chr14	94770780	94770780	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttcataaccctcgccAggaaaaggctgctccaggtg	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94770780A>G	ENST00000341584.3	-	5	1339	c.1193T>C	c.(1192-1194)cTg>cCg	p.L398P		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	398					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AACCCTCGCCAGGAAAAGGCT	0.532													False	0	False	14:94770780	0	G	94770780	A	G	94770780	3	3	88	1	0	0	0	0	1	0	0	0	14174	188	7	4	28	4	SERPINA6	14	94770780	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14205	94770780	12578760	14423	22135											
SERPINA1	5265	broad.mit.edu	37	chr14	94847322	94847322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcggtggcattgcccaggTatttcatcagcagcacccag	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94847322T>C	ENST00000448921.1	-	5	1375	c.803A>G	c.(802-804)tAc>tGc	p.Y268C	SERPINA1_ENST00000393088.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000440909.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000449399.3_Missense_Mutation_p.Y268C|SERPINA1_ENST00000355814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Y268C|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000404814.4_Missense_Mutation_p.Y268C|SERPINA1_ENST00000402629.1_Missense_Mutation_p.Y268C	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	268					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	ATTGCCCAGGTATTTCATCAG	0.507													False	0	False	14:94847322	0	C	94847322	T	C	94847322	3	2	88	1	0	0	0	0	1	0	0	0	14167	1638	57	4	465	4	SERPINA1	14	94847322	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	76542	94847322	12502218	14424	22136											
SERPINA9	327657	broad.mit.edu	37	chr14	94933482	94933482	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggctccactttctcagtgttCtggctgacaaggcctgttcc	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94933482C>T	ENST00000337425.5	-	3	994	c.920G>A	c.(919-921)aGa>aAa	p.R307K	SERPINA9_ENST00000380365.3_Missense_Mutation_p.R289K|SERPINA9_ENST00000448305.2_Missense_Mutation_p.R209K|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R207K|SERPINA9_ENST00000546329.1_Missense_Mutation_p.R271K|SERPINA9_ENST00000424550.2_Missense_Mutation_p.R158K	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	289					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTCAGTGTTCTGGCTGACAA	0.537													False	0	False	14:94933482	0	T	94933482	C	T	94933482	3	4	88	1	0	0	0	0	1	0	0	0	14176	913	32	2	399	2	SERPINA9	14	94933482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86160	94933482	12416058	14425	22137											
SERPINA9	327657	broad.mit.edu	37	chr14	94935809	94935809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcaggtctttgctgggAacagtcagtgagtgaaccag	14	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94935809A>G	ENST00000337425.5	-	2	497	c.423T>C	c.(421-423)gtT>gtC	p.V141V	SERPINA9_ENST00000380365.3_Silent_p.V123V|SERPINA9_ENST00000448305.2_Silent_p.V43V|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000546329.1_Silent_p.V105V|SERPINA9_ENST00000424550.2_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	123					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CTTTGCTGGGAACAGTCAGTG	0.547													False	0	True	14:94935809	0	G	94935809	A	G	94935809	2	3	88	1	0	0	0	0	0	0	0	1	14176	233	9	4		4	SERPINA9	14	94935809	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2327	94935809	12413731	14426	22138											
SERPINA12	145264	broad.mit.edu	37	chr14	94962746	94962746	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttccatctggagaaagtgTccacctgcaatcccttctcc	6	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94962746T>C	ENST00000341228.2	-	4	1664	c.869A>G	c.(868-870)gAc>gGc	p.D290G	SERPINA12_ENST00000556881.1_Missense_Mutation_p.D290G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	290					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGAGAAAGTGTCCACCTGCAA	0.478													False	0	False	14:94962746	0	C	94962746	T	C	94962746	3	2	88	1	0	0	0	0	1	0	0	0	14170	1667	58	4	387	4	SERPINA12	14	94962746	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26937	94962746	12386794	14427	22139											
SERPINA5	5104	broad.mit.edu	37	chr14	95054153	95054153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgtaagtgccatgaagacgCtgtacctggcagacactttc	10	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95054153C>A	ENST00000329597.7	+	3	664	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	SERPINA5_ENST00000554276.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000553780.1_Missense_Mutation_p.L152M|SERPINA5_ENST00000554866.1_Missense_Mutation_p.L152M	NM_000624.5	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	152					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CATGAAGACGCTGTACCTGGC	0.532													False	0	False	14:95054153	0	A	95054153	C	A	95054153	3	1	88	1	0	0	0	0	1	0	0	0	14173	796	28	3	456	3	SERPINA5	14	95054153	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91407	95054153	12295387	14428	22140											
SERPINA5	5104	broad.mit.edu	37	chr14	95054179	95054179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcagacactttccctacCaactttagggactctgcagg	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95054179C>T	ENST00000329597.7	+	3	690	c.480C>T	c.(478-480)acC>acT	p.T160T	SERPINA5_ENST00000554276.1_Silent_p.T160T|SERPINA5_ENST00000553780.1_Silent_p.T160T|SERPINA5_ENST00000554866.1_Silent_p.T160T	NM_000624.5	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	160					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTTTCCCTACCAACTTTAGGG	0.512													False	0	False	14:95054179	0	T	95054179	C	T	95054179	2	4	88	1	0	0	0	0	0	0	0	1	14173	581	21	2		2	SERPINA5	14	95054179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26	95054179	12295361	14429	22141											
SERPINA5	5104	broad.mit.edu	37	chr14	95056472	95056472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtacccatgatgagccgCgaggatcagtatcactacct	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95056472C>T	ENST00000329597.7	+	4	924	c.714C>T	c.(712-714)cgC>cgT	p.R238R	SERPINA5_ENST00000554276.1_Silent_p.R238R|SERPINA5_ENST00000553780.1_Silent_p.R238R|SERPINA5_ENST00000554866.1_Silent_p.R238R	NM_000624.5	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	238					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGATGAGCCGCGAGGATCAGT	0.567													False	0	False	14:95056472	0	T	95056472	C	T	95056472	2	4	88	1	0	0	0	0	0	0	0	1	14173	755	27	1		1	SERPINA5	14	95056472	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2293	95056472	12293068	14430	22142											
SERPINA3	12	broad.mit.edu	37	chr14	95090073	95090073	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attgtgcgtttcaacaggccCttcctgatgatcattgtccc	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95090073C>A	ENST00000467132.1	+	5	2342	c.1194C>A	c.(1192-1194)ccC>ccA	p.P398P	SERPINA3_ENST00000482740.1_Silent_p.P180P|SERPINA3_ENST00000393080.4_Silent_p.P398P|SERPINA3_ENST00000393078.3_Silent_p.P398P|RP11-986E7.7_ENST00000553947.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	398					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCAACAGGCCCTTCCTGATGA	0.498													False	0	True	14:95090073	0	A	95090073	C	A	95090073	2	1	88	1	0	0	0	0	0	0	0	1	14171	668	24	3		3	SERPINA3	14	95090073	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33601	95090073	12259467	14431	22143											
DICER1	23405	broad.mit.edu	37	chr14	95560313	95560313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagctcaggagagacagctTtgaagtacttgtggtagtcg	14	6	1	3	rs144259142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95560313T>C	ENST00000526495.1	-	26	5567	c.5276A>G	c.(5275-5277)aAa>aGa	p.K1759R	DICER1_ENST00000527414.1_Missense_Mutation_p.K1759R|DICER1_ENST00000541352.1_Missense_Mutation_p.K1759R|DICER1_ENST00000343455.3_Missense_Mutation_p.K1759R|DICER1_ENST00000393063.1_Missense_Mutation_p.K1759R|DICER1_ENST00000556045.1_Missense_Mutation_p.K657R			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1759	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGAGACAGCTTTGAAGTACTT	0.493			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				False	0	True	14:95560313	0	C	95560313	T	C	95560313	3	2	88	1	0	0	0	0	1	0	0	0	4551	1841	64	4	508	4	DICER1	14	95560313	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	470240	95560313	11789227	14432	22144											
DICER1	23405	broad.mit.edu	37	chr14	95566220	95566220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatattgacaccaccatgCggctgggtagtcccttcttt	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95566220C>T	ENST00000526495.1	-	24	4394	c.4103G>A	c.(4102-4104)cGc>cAc	p.R1368H	DICER1_ENST00000527414.1_Missense_Mutation_p.R1368H|DICER1_ENST00000541352.1_Missense_Mutation_p.R1368H|DICER1_ENST00000343455.3_Missense_Mutation_p.R1368H|DICER1_ENST00000393063.1_Missense_Mutation_p.R1368H|DICER1_ENST00000556045.1_Missense_Mutation_p.R266H			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1368	RNase III 1.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CACCACCATGCGGCTGGGTAG	0.403			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				False	0	False	14:95566220	0	T	95566220	C	T	95566220	3	4	88	1	0	0	0	0	1	0	0	0	4551	768	27	1	1689	1	DICER1	14	95566220	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5907	95566220	11783320	14433	22145											
DICER1	23405	broad.mit.edu	37	chr14	95569987	95569987	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacttccatctgaggtagatTtgttagcatttccatcaagg	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95569987T>G	ENST00000526495.1	-	23	4037	c.3746A>C	c.(3745-3747)aAa>aCa	p.K1249T	DICER1_ENST00000527414.1_Missense_Mutation_p.K1249T|DICER1_ENST00000541352.1_Missense_Mutation_p.K1249T|DICER1_ENST00000343455.3_Missense_Mutation_p.K1249T|DICER1_ENST00000393063.1_Missense_Mutation_p.K1249T|DICER1_ENST00000556045.1_Missense_Mutation_p.K147T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1249					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGAGGTAGATTTGTTAGCATT	0.453			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				False	0	True	14:95569987	0	G	95569987	T	G	95569987	3	3	88	1	0	0	0	0	1	0	0	0	4551	1841	64	4	2050	4	DICER1	14	95569987	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3767	95569987	11779553	14434	22146											
DICER1	23405	broad.mit.edu	37	chr14	95571439	95571439	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtgatctgactcccaCgccagcatcgctggcagtct	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95571439C>T	ENST00000526495.1	-	22	3529	c.3238G>A	c.(3238-3240)Gtg>Atg	p.V1080M	DICER1_ENST00000527414.1_Missense_Mutation_p.V1080M|DICER1_ENST00000541352.1_Missense_Mutation_p.V1080M|DICER1_ENST00000343455.3_Missense_Mutation_p.V1080M|DICER1_ENST00000393063.1_Missense_Mutation_p.V1080M|DICER1_ENST00000556045.1_Silent_p.A3A			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1080					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTGACTCCCACGCCAGCATCG	0.488			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				False	0	False	14:95571439	0	T	95571439	C	T	95571439	3	4	88	1	0	0	0	0	1	0	0	0	4551	536	19	1	2562	1	DICER1	14	95571439	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1452	95571439	11778101	14435	22147											
DICER1	23405	broad.mit.edu	37	chr14	95572534	95572534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acacatcagctacataaaatCgatgaggctgatcaaaattg	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95572534C>T	ENST00000526495.1	-	20	3122	c.2831G>A	c.(2830-2832)cGa>cAa	p.R944Q	DICER1_ENST00000527414.1_Missense_Mutation_p.R944Q|DICER1_ENST00000541352.1_Missense_Mutation_p.R944Q|DICER1_ENST00000343455.3_Missense_Mutation_p.R944Q|DICER1_ENST00000393063.1_Missense_Mutation_p.R944Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	944	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TACATAAAATCGATGAGGCTG	0.308			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				False	0	False	14:95572534	0	T	95572534	C	T	95572534	3	4	88	1	0	0	0	0	1	0	0	0	4551	884	31	1	2977	1	DICER1	14	95572534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1095	95572534	11777006	14436	22148											
DICER1	23405	broad.mit.edu	37	chr14	95582075	95582075	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcctcaacacatatggTgggaaaacgtcatcatcatc	8	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95582075T>C	ENST00000526495.1	-	13	2127	c.1836A>G	c.(1834-1836)ccA>ccG	p.P612P	DICER1_ENST00000527414.1_Silent_p.P612P|DICER1_ENST00000541352.1_Silent_p.P612P|DICER1_ENST00000343455.3_Silent_p.P612P|DICER1_ENST00000393063.1_Silent_p.P612P			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	612					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACACATATGGTGGGAAAACGT	0.428			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				False	0	True	14:95582075	0	C	95582075	T	C	95582075	2	2	88	1	0	0	0	0	0	0	0	1	4551	1683	59	4		4	DICER1	14	95582075	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9541	95582075	11767465	14437	22149											
DICER1	23405	broad.mit.edu	37	chr14	95590927	95590927	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgatgtatttctgtagttCtcttaccatcattccagcta	5	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95590927C>A	ENST00000526495.1	-	10	1273	c.982G>T	c.(982-984)Gaa>Taa	p.E328*	DICER1_ENST00000527414.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.E328*|DICER1_ENST00000343455.3_Nonsense_Mutation_p.E328*|DICER1_ENST00000393063.1_Nonsense_Mutation_p.E328*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	328	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTCTGTAGTTCTCTTACCATC	0.378			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				False	0	False	14:95590927	0	A	95590927	C	A	95590927	4	1	88	1	0	0	0	0	0	1	0	0	4551	922	32	3	4866	3	DICER1	14	95590927	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8852	95590927	11758613	14438	22150											
DICER1	23405	broad.mit.edu	37	chr14	95596505	95596505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttcaaaacattcaaggCgacatagcaagtcataatga	6	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95596505C>T	ENST00000526495.1	-	7	754	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	DICER1_ENST00000527414.1_Missense_Mutation_p.A155T|DICER1_ENST00000541352.1_Missense_Mutation_p.A155T|DICER1_ENST00000343455.3_Missense_Mutation_p.A155T|DICER1_ENST00000393063.1_Missense_Mutation_p.A155T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	155	Helicase ATP-binding.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACATTCAAGGCGACATAGCAA	0.353			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				False	0	False	14:95596505	0	T	95596505	C	T	95596505	3	4	88	1	0	0	0	0	1	0	0	0	4551	768	27	1	5397	1	DICER1	14	95596505	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5578	95596505	11753035	14439	22151											
ATG2B	55102	broad.mit.edu	37	chr14	96758421	96758421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaatgggaacttctgacGtgaatctaaattctctgaag	10	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96758421G>A	ENST00000359933.4	-	37	6334	c.5441C>T	c.(5440-5442)aCg>aTg	p.T1814M	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1814										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AACTTCTGACGTGAATCTAAA	0.308													False	0	False	14:96758421	0	A	96758421	G	A	96758421	3	1	88	1	0	0	0	0	1	0	0	0	1098	1145	40	1	819	1	ATG2B	14	96758421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1161916	96758421	10591119	14440	22152											
ATG2B	55102	broad.mit.edu	37	chr14	96777551	96777551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaatgagattcattaacGcagcacaagagtctgagcac	9	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96777551G>A	ENST00000359933.4	-	28	4957	c.4064C>T	c.(4063-4065)gCg>gTg	p.A1355V	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1355										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATTCATTAACGCAGCACAAGA	0.458													False	0	False	14:96777551	0	A	96777551	G	A	96777551	3	1	88	1	0	0	0	0	1	0	0	0	1098	1087	38	1	2232	1	ATG2B	14	96777551	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19130	96777551	10571989	14441	22153											
ATG2B	55102	broad.mit.edu	37	chr14	96789073	96789073	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatttattttcagtacaattCtgatagcaaagacaatttta	5	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96789073C>A	ENST00000359933.4	-	17	3434		c.e17-1			NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B											breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGTACAATTCTGATAGCAAA	0.358													False	0	False	14:96789073	0	A	96789073	C	A	96789073	5	1	88	1	0	0	0	0	0	0	1	0	1098	927	32	3	3800	3	ATG2B	14	96789073	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11522	96789073	10560467	14442	22154											
ATG2B	55102	broad.mit.edu	37	chr14	96795031	96795031	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggggccctctattctcagAatgcttataatgaagctgaa	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96795031A>C	ENST00000359933.4	-	13	2847	c.1954T>G	c.(1954-1956)Tct>Gct	p.S652A		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	652										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTATTCTCAGAATGCTTATAA	0.333													False	0	False	14:96795031	0	C	96795031	A	C	96795031	3	2	88	1	0	0	0	0	1	0	0	0	1098	246	9	4	4402	4	ATG2B	14	96795031	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5958	96795031	10554509	14443	22155											
ATG2B	55102	broad.mit.edu	37	chr14	96813603	96813603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaagagccccatggaactgAcagggaaattgactgaatga	11	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96813603A>G	ENST00000359933.4	-	2	1131	c.238T>C	c.(238-240)Tca>Cca	p.S80P		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	80										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CATGGAACTGACAGGGAAATT	0.458													False	0	False	14:96813603	0	G	96813603	A	G	96813603	3	3	88	1	0	0	0	0	1	0	0	0	1098	275	10	4	6162	4	ATG2B	14	96813603	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18572	96813603	10535937	14444	22156											
AK7	122481	broad.mit.edu	37	chr14	96871122	96871122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagaagaccttctcatgcGcctgctggagtgtgatgtta	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96871122G>A	ENST00000267584.4	+	3	367	c.323G>A	c.(322-324)cGc>cAc	p.R108H	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	108					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTTCTCATGCGCCTGCTGGAG	0.433													False	0	False	14:96871122	0	A	96871122	G	A	96871122	3	1	88	1	0	0	0	0	1	0	0	0	444	1087	38	1	333	1	AK7	14	96871122	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57519	96871122	10478418	14445	22157											
AK7	122481	broad.mit.edu	37	chr14	96887164	96887164	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttcttataataggaggaTtctgaggttccattcactga	8	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96887164T>G	ENST00000267584.4	+	5	548	c.504T>G	c.(502-504)gaT>gaG	p.D168E	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	168					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AATAGGAGGATTCTGAGGTTC	0.343													False	0	False	14:96887164	0	G	96887164	T	G	96887164	3	3	88	1	0	0	0	0	1	0	0	0	444	1490	52	4	522	4	AK7	14	96887164	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16042	96887164	10462376	14446	22158											
AK7	122481	broad.mit.edu	37	chr14	96904235	96904235	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atggagcggaaggaggcatgTtacacacattttttaaggta	12	5	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96904235T>C	ENST00000267584.4	+	6	717	c.673T>C	c.(673-675)Tta>Cta	p.L225L		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	225					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AGGAGGCATGTTACACACATT	0.373													False	0	False	14:96904235	0	C	96904235	T	C	96904235	2	2	88	1	0	0	0	0	0	0	0	1	444	1722	60	4		4	AK7	14	96904235	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17071	96904235	10445305	14447	22159											
AK7	122481	broad.mit.edu	37	chr14	96909108	96909108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcattaccagtttttggCgatggaacaaatgtaattcc	8	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96909108C>T	ENST00000267584.4	+	7	776	c.732C>T	c.(730-732)ggC>ggT	p.G244G		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	244					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAGTTTTTGGCGATGGAACAA	0.428													False	0	False	14:96909108	0	T	96909108	C	T	96909108	2	4	88	1	0	0	0	0	0	0	0	1	444	755	27	1		1	AK7	14	96909108	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4873	96909108	10440432	14448	22160											
PAPOLA	10914	broad.mit.edu	37	chr14	97018865	97018865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctcaatgacagcagcctcGacttgtctatggacagtgat	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:97018865G>A	ENST00000216277.8	+	17	1790	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	PAPOLA_ENST00000392990.2_Missense_Mutation_p.D524N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	524	Ser/Thr-rich.	Interaction with RNA (By similarity).			mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CAGCAGCCTCGACTTGTCTAT	0.413													False	0	False	14:97018865	0	A	97018865	G	A	97018865	3	1	88	1	0	0	0	0	1	0	0	0	11497	1058	37	1	1636	1	PAPOLA	14	97018865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109757	97018865	10330675	14449	22161											
PAPOLA	10914	broad.mit.edu	37	chr14	97029194	97029194	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaagtacaactcaatcagaAactattcagacagcggcttc	6	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:97029194A>C	ENST00000216277.8	+	21	2326	c.2106A>C	c.(2104-2106)gaA>gaC	p.E702D	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E681D	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	702	Required for interaction with NUDT21.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CTCAATCAGAAACTATTCAGA	0.378													False	0	True	14:97029194	0	C	97029194	A	C	97029194	3	2	88	1	0	0	0	0	1	0	0	0	11497	11	1	4	2188	4	PAPOLA	14	97029194	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10329	97029194	10320346	14450	22162											
BCL11B	64919	broad.mit.edu	37	chr14	99640634	99640634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctccttgccgatctgccCgtgcgtcttcatgtggcgcg	11	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99640634C>T	ENST00000345514.2	-	3	2592	c.2326G>A	c.(2326-2328)Ggg>Agg	p.G776R	BCL11B_ENST00000443726.2_Missense_Mutation_p.G653R|BCL11B_ENST00000357195.3_Missense_Mutation_p.G847R	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	847						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGATCTGCCCGTGCGTCTTC	0.627			T	TLX3	T-ALL								False	0	True	14:99640634	0	T	99640634	C	T	99640634	3	4	88	1	0	0	0	0	1	0	0	0	1368	652	23	1	149	1	BCL11B	14	99640634	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2611440	99640634	7708906	14451	22163											
BCL11B	64919	broad.mit.edu	37	chr14	99641019	99641019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtccttcatgaagtgccgCgacgccgcgtagcccaccag	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99641019C>T	ENST00000345514.2	-	3	2207	c.1941G>A	c.(1939-1941)tcG>tcA	p.S647S	BCL11B_ENST00000443726.2_Silent_p.S524S|BCL11B_ENST00000357195.3_Silent_p.S718S	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	718	Gly-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGAAGTGCCGCGACGCCGCGT	0.672			T	TLX3	T-ALL								False	0	False	14:99641019	0	T	99641019	C	T	99641019	2	4	88	1	0	0	0	0	0	0	0	1	1368	755	27	1		1	BCL11B	14	99641019	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	385	99641019	7708521	14452	22164											
BCL11B	64919	broad.mit.edu	37	chr14	99697702	99697702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgacaactgacactggcatCcaaagggagcctccgtctga	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99697702C>T	ENST00000357195.3	-	3	629	c.620G>A	c.(619-621)gGa>gAa	p.G207E	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	207						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACACTGGCATCCAAAGGGAGC	0.721			T	TLX3	T-ALL								False	0	False	14:99697702	0	T	99697702	C	T	99697702	3	4	88	1	0	0	0	0	1	0	0	0	1368	855	30	2	2072	2	BCL11B	14	99697702	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56683	99697702	7651838	14453	22165											
BCL11B	64919	broad.mit.edu	37	chr14	99697788	99697788	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggcagggggaggcagggCgggagagcgcccagggcacg	22	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99697788C>T	ENST00000357195.3	-	3	543	c.534G>A	c.(532-534)ccG>ccA	p.P178P	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	178						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGAGGCAGGGCGGGAGAGCGC	0.697			T	TLX3	T-ALL								False	0	True	14:99697788	0	T	99697788	C	T	99697788	2	4	88	1	0	0	0	0	0	0	0	1	1368	755	27	1		1	BCL11B	14	99697788	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	99697788	7651752	14454	22166											
BCL11B	64919	broad.mit.edu	37	chr14	99723995	99723995	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacccaagctgccgccacaCtgcttccttttgtgctctat	7	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99723995C>A	ENST00000345514.2	-	2	506	c.240G>T	c.(238-240)caG>caT	p.Q80H	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Missense_Mutation_p.Q80H	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	0						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGCCGCCACACTGCTTCCTTT	0.607			T	TLX3	T-ALL								False	0	False	14:99723995	0	A	99723995	C	A	99723995	3	1	88	1	0	0	0	0	1	0	0	0	1368	564	20	3	2456	3	BCL11B	14	99723995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26207	99723995	7625545	14455	22167											
CCNK	8812	broad.mit.edu	37	chr14	99959071	99959071	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcagcaaacctggaccaCacaaagccatgttggtactg	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99959071C>T	ENST00000389879.5	+	2	180	c.57C>T	c.(55-57)caC>caT	p.H19H	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Silent_p.H19H	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	19					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACCTGGACCACACAAAGCCAT	0.458													False	0	True	14:99959071	0	T	99959071	C	T	99959071	2	4	88	1	0	0	0	0	0	0	0	1	2953	477	17	2		2	CCNK	14	99959071	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	235076	99959071	7390469	14456	22168											
CCNK	8812	broad.mit.edu	37	chr14	99976659	99976659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccccacccccctccagctAcatgaccgggatgtccacca	7	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99976659A>G	ENST00000389879.5	+	11	1406	c.1283A>G	c.(1282-1284)tAc>tGc	p.Y428C	CCNK_ENST00000555049.1_Intron	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	428					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CCCTCCAGCTACATGACCGGG	0.682													False	0	False	14:99976659	0	G	99976659	A	G	99976659	3	3	88	1	0	0	0	0	1	0	0	0	2953	391	14	4	1321	4	CCNK	14	99976659	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17588	99976659	7372881	14457	22169											
HHIPL1	84439	broad.mit.edu	37	chr14	100119107	100119107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacaaccgcaggctctacGtctactactcagtgggtatc	9	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100119107G>A	ENST00000330710.5	+	2	900	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V268I	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	268					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	p.V268I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CAGGCTCTACGTCTACTACTC	0.617													False	0	False	14:100119107	0	A	100119107	G	A	100119107	3	1	88	1	0	0	0	0	1	0	0	0	7140	1145	40	1	808	1	HHIPL1	14	100119107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142448	100119107	7230433	14458	22170											
HHIPL1	84439	broad.mit.edu	37	chr14	100119188	100119188	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggatgacgagaacgccGtggaccacagctctgagagg	15	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100119188G>A	ENST00000330710.5	+	2	981	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V295M	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	295					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGAGAACGCCGTGGACCACAG	0.602													False	0	False	14:100119188	0	A	100119188	G	A	100119188	3	1	88	1	0	0	0	0	1	0	0	0	7140	1145	40	1	889	1	HHIPL1	14	100119188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	100119188	7230352	14459	22171											
HHIPL1	84439	broad.mit.edu	37	chr14	100129317	100129317	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcccaggcctcatcaacaActactacccgtacatcatct	4	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100129317A>C	ENST00000330710.5	+	6	1705	c.1607A>C	c.(1606-1608)aAc>aCc	p.N536T	HHIPL1_ENST00000357223.2_Missense_Mutation_p.N536T	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	536					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CTCATCAACAACTACTACCCG	0.602													False	0	False	14:100129317	0	C	100129317	A	C	100129317	3	2	88	1	0	0	0	0	1	0	0	0	7140	43	2	4	1629	4	HHIPL1	14	100129317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10129	100129317	7220223	14460	22172											
HHIPL1	84439	broad.mit.edu	37	chr14	100135184	100135184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctagctgtaaggccagaagCgccatgcccggctatgtccc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100135184C>T	ENST00000357223.2	+	8	1811	c.1746C>T	c.(1744-1746)agC>agT	p.S582S	HHIPL1_ENST00000330710.5_Intron	NM_032425.4	NP_115801.3	Q96JK4	HIPL1_HUMAN	HHIP-like 1	578					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AGGCCAGAAGCGCCATGCCCG	0.567													False	0	False	14:100135184	0	T	100135184	C	T	100135184	2	4	88	1	0	0	0	0	0	0	0	1	7140	767	27	1		1	HHIPL1	14	100135184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5867	100135184	7214356	14461	22173											
CYP46A1	10858	broad.mit.edu	37	chr14	100158175	100158175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaaaacctcagtcatcGtcacgagtcctgagtcggtt	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100158175G>A	ENST00000261835.3	+	3	363	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	CYP46A1_ENST00000423126.2_5'UTR|RP11-543C4.3_ENST00000555875.1_lincRNA	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	87					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CTCAGTCATCGTCACGAGTCC	0.532													False	0	False	14:100158175	0	A	100158175	G	A	100158175	3	1	88	1	0	0	0	0	1	0	0	0	4207	1145	40	1	269	1	CYP46A1	14	100158175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22991	100158175	7191365	14462	22174											
CYP46A1	10858	broad.mit.edu	37	chr14	100187648	100187648	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacctggggagactgcaGtacctgtcccaggtgtggga	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100187648G>A	ENST00000554176.1	+	6	1260	c.594G>A	c.(592-594)caG>caA	p.Q198Q	CYP46A1_ENST00000423126.2_Silent_p.Q254Q|CYP46A1_ENST00000261835.3_Silent_p.Q351Q			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	351					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGAGACTGCAGTACCTGTCCC	0.557													False	0	False	14:100187648	0	A	100187648	G	A	100187648	2	1	88	1	0	0	0	0	0	0	0	1	4207	1020	36	2		2	CYP46A1	14	100187648	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29473	100187648	7161892	14463	22175											
EML1	2009	broad.mit.edu	37	chr14	100367375	100367375	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgtattgcattctcaaaatCtgtaagtatgtgccctgtgg	9	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100367375C>A	ENST00000262233.6	+	9	1146	c.1007C>A	c.(1006-1008)tCt>tAt	p.S336Y	EML1_ENST00000327921.9_Splice_Site_p.S324Y|EML1_ENST00000334192.4_Splice_Site_p.S355Y	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	336						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTCTCAAAATCTGTAAGTATG	0.458													False	0	False	14:100367375	0	A	100367375	C	A	100367375	5	1	88	1	0	0	0	0	0	0	1	0	5128	927	32	3	1102	3	EML1	14	100367375	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179727	100367375	6982165	14464	22176											
EML1	2009	broad.mit.edu	37	chr14	100404186	100404186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaagcaagtcgtaagtGtggaaactacaagagacatt	10	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100404186G>A	ENST00000262233.6	+	20	2267	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M	EML1_ENST00000327921.9_Missense_Mutation_p.V698M|EML1_ENST00000334192.4_Missense_Mutation_p.V729M	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	710						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGTCGTAAGTGTGGAAACTAC	0.483													False	0	False	14:100404186	0	A	100404186	G	A	100404186	3	1	88	1	0	0	0	0	1	0	0	0	5128	1377	48	2	2267	2	EML1	14	100404186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36811	100404186	6945354	14465	22177											
EML1	2009	broad.mit.edu	37	chr14	100405613	100405613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaactcctgtcaacaggCgacgactttggcaaagtgca	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100405613C>T	ENST00000262233.6	+	21	2410	c.2271C>T	c.(2269-2271)ggC>ggT	p.G757G	EML1_ENST00000327921.9_Silent_p.G745G|EML1_ENST00000334192.4_Silent_p.G776G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	757						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGTCAACAGGCGACGACTTTG	0.522													False	0	False	14:100405613	0	T	100405613	C	T	100405613	2	4	88	1	0	0	0	0	0	0	0	1	5128	755	27	1		1	EML1	14	100405613	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1427	100405613	6943927	14466	22178											
YY1	7528	broad.mit.edu	37	chr14	100705717	100705717	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagtggtgggcgaggaggagGaggaggacgacgacgacgag	22	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100705717G>T	ENST00000262238.4	+	1	396	c.136G>T	c.(136-138)Gag>Tag	p.E46*		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	46	Asp/Glu-rich (acidic).				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				cgaggaggaggaggaggacga	0.711													False	0	True	14:100705717	0	T	100705717	G	T	100705717	4	4	88	1	0	0	0	0	0	1	0	0	17591	1175	41	3	138	3	YY1	14	100705717	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300104	100705717	6643823	14467	22179											
SLC25A29	123096	broad.mit.edu	37	chr14	100759254	100759254	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacctgccaggaactggttgAggggcgagtcgtggcccagg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100759254A>G	ENST00000554912.1	-	2	3367	c.80T>C	c.(79-81)cTc>cCc	p.L27P	SLC25A29_ENST00000359232.3_Missense_Mutation_p.L93P|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000556505.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000539621.1_Missense_Mutation_p.L27P|SLC25A29_ENST00000392908.3_Silent_p.P78P|SLC25A29_ENST00000555927.1_Missense_Mutation_p.L27P			Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	93						integral to membrane|mitochondrial inner membrane	binding			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	GAACTGGTTGAGGGGCGAGTC	0.706													False	0	True	14:100759254	0	G	100759254	A	G	100759254	3	3	88	1	0	0	0	0	1	0	0	0	14572	304	11	4	637	4	SLC25A29	14	100759254	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53537	100759254	6590286	14468	22180											
WARS	7453	broad.mit.edu	37	chr14	100813093	100813093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcttaccaatgcagtcGctgtcagtgaagccgaaaat	10	11	2	1	rs141490520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100813093G>A	ENST00000355338.2	-	7	1434	c.816C>T	c.(814-816)agC>agT	p.S272S	WARS_ENST00000557135.1_Silent_p.S272S|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000392882.2_Silent_p.S272S|WARS_ENST00000358655.4_Silent_p.S231S|WARS_ENST00000556645.1_Silent_p.S231S|WARS_ENST00000344102.5_Silent_p.S231S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	272					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CAATGCAGTCGCTGTCAGTGA	0.473													False	0	False	14:100813093	0	A	100813093	G	A	100813093	2	1	88	1	0	0	0	0	0	0	0	1	17333	1078	38	1		1	WARS	14	100813093	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53839	100813093	6536447	14469	22181											
WARS	7453	broad.mit.edu	37	chr14	100826997	100826997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aattttactacttccaaaccGaactggaaaaaaagaaaaga	5	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100826997G>A	ENST00000355338.2	-	4	934	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.R106W|WARS_ENST00000392882.2_Missense_Mutation_p.R106W|WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000556645.1_Missense_Mutation_p.R65W|WARS_ENST00000344102.5_Missense_Mutation_p.R65W	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	106					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTTCCAAACCGAACTGGAAAA	0.418													False	0	False	14:100826997	0	A	100826997	G	A	100826997	3	1	88	1	0	0	0	0	1	0	0	0	17333	1057	37	1	1131	1	WARS	14	100826997	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13904	100826997	6522543	14470	22182											
WARS	7453	broad.mit.edu	37	chr14	100828156	100828156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccatgattactggtaggtgCtgggttccctggaggacagt	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100828156C>A	ENST00000355338.2	-	3	820	c.202G>T	c.(202-204)Gca>Tca	p.A68S	WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.A68S|WARS_ENST00000392882.2_Missense_Mutation_p.A68S|WARS_ENST00000358655.4_Missense_Mutation_p.A27S|WARS_ENST00000556645.1_Missense_Mutation_p.A27S|WARS_ENST00000344102.5_Missense_Mutation_p.A27S	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	68					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTGGTAGGTGCTGGGTTCCCT	0.483													False	0	False	14:100828156	0	A	100828156	C	A	100828156	3	1	88	1	0	0	0	0	1	0	0	0	17333	797	28	3	1249	3	WARS	14	100828156	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1159	100828156	6521384	14471	22183											
WDR25	79446	broad.mit.edu	37	chr14	100847746	100847746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccgtaggtaaaaatggcaGctcttttcagaagaaaaaat	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847746G>A	ENST00000335290.6	+	2	711	c.485G>A	c.(484-486)aGc>aAc	p.S162N	WDR25_ENST00000554175.1_Missense_Mutation_p.S162N|WDR25_ENST00000402312.3_Missense_Mutation_p.S162N|WDR25_ENST00000554998.1_Missense_Mutation_p.S162N	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	162										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AAAAATGGCAGCTCTTTTCAG	0.468													False	0	False	14:100847746	0	A	100847746	G	A	100847746	3	1	88	1	0	0	0	0	1	0	0	0	17366	971	34	2	487	2	WDR25	14	100847746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19590	100847746	6501794	14472	22184											
WDR25	79446	broad.mit.edu	37	chr14	100847801	100847801	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccctatactcccagaagActaagacagcggcaggcatt	9	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847801A>G	ENST00000335290.6	+	2	766	c.540A>G	c.(538-540)agA>agG	p.R180R	WDR25_ENST00000554175.1_Silent_p.R180R|WDR25_ENST00000402312.3_Silent_p.R180R|WDR25_ENST00000554998.1_Silent_p.R180R	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	180										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTCCCAGAAGACTAAGACAGC	0.537													False	0	False	14:100847801	0	G	100847801	A	G	100847801	2	3	88	1	0	0	0	0	0	0	0	1	17366	272	10	4		4	WDR25	14	100847801	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	55	100847801	6501739	14473	22185											
BEGAIN	57596	broad.mit.edu	37	chr14	101005511	101005511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcgggaggacaggctggCggggtccggcttctccagca	18	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101005511C>T	ENST00000556751.1	-	5	3789	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	BEGAIN_ENST00000443071.2_Missense_Mutation_p.A193T|BEGAIN_ENST00000355173.2_Missense_Mutation_p.A193T|CTD-2062F14.3_ENST00000553301.1_lincRNA			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	193						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GACAGGCTGGCGGGGTCCGGC	0.706													False	0	True	14:101005511	0	T	101005511	C	T	101005511	3	4	88	1	0	0	0	0	1	0	0	0	1401	768	27	1	1208	1	BEGAIN	14	101005511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157710	101005511	6344029	14474	22186											
DLK1	8788	broad.mit.edu	37	chr14	101200802	101200802	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcaagcccgagttcacaGgtctcacctgtgtcaagaag	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101200802G>T	ENST00000341267.4	+	5	963	c.721G>T	c.(721-723)Ggt>Tgt	p.G241C	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	241	EGF-like 6.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CGAGTTCACAGGTCTCACCTG	0.677													False	0	False	14:101200802	0	T	101200802	G	T	101200802	3	4	88	1	0	0	0	0	1	0	0	0	4594	1000	35	3	739	3	DLK1	14	101200802	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	195291	101200802	6148738	14475	22187											
DIO3	1735	broad.mit.edu	37	chr14	102028036	102028036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgatttcttgtgtatccGcaagcatttcctgggccgcc	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028036G>A	ENST00000359323.3	+	1	349	c.125G>A	c.(124-126)cGc>cAc	p.R42H	DIO3_ENST00000510508.4_Missense_Mutation_p.R68H	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	42					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTGTGTATCCGCAAGCATTTC	0.662													False	0	False	14:102028036	0	A	102028036	G	A	102028036	3	1	88	1	0	0	0	0	1	0	0	0	4556	1087	38	1	205	1	DIO3	14	102028036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	827234	102028036	5321504	14476	22188											
DIO3	1735	broad.mit.edu	37	chr14	102028103	102028103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagctcaacagtgaaggCgaggaggtgcctcccgatga	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028103C>T	ENST00000359323.3	+	1	416	c.192C>T	c.(190-192)ggC>ggT	p.G64G	DIO3_ENST00000510508.4_Silent_p.G90G	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	64					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				ACAGTGAAGGCGAGGAGGTGC	0.647													False	0	False	14:102028103	0	T	102028103	C	T	102028103	2	4	88	1	0	0	0	0	0	0	0	1	4556	755	27	1		1	DIO3	14	102028103	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67	102028103	5321437	14477	22189											
DIO3	1735	broad.mit.edu	37	chr14	102028265	102028265	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgaggtggttctgcccgaCggcttccagagccagcacat	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028265C>T	ENST00000359323.3	+	1	578	c.354C>T	c.(352-354)gaC>gaT	p.D118D	DIO3_ENST00000510508.4_Silent_p.D144D	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	118					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTCTGCCCGACGGCTTCCAGA	0.637													False	0	False	14:102028265	0	T	102028265	C	T	102028265	2	4	88	1	0	0	0	0	0	0	0	1	4556	535	19	1		1	DIO3	14	102028265	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162	102028265	5321275	14478	22190											
PPP2R5C	5527	broad.mit.edu	37	chr14	102368104	102368104	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaagactcacagtccaaaaGaagtaatgttcttaaacgaa	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102368104G>T	ENST00000422945.2	+	11	1090	c.994G>T	c.(994-996)Gaa>Taa	p.E332*	PPP2R5C_ENST00000328724.5_Nonsense_Mutation_p.E356*|PPP2R5C_ENST00000557095.1_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000334743.5_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000445439.3_Nonsense_Mutation_p.E301*|PPP2R5C_ENST00000350249.3_Nonsense_Mutation_p.E301*	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	301					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGTCCAAAAGAAGTAATGTT	0.443													False	0	True	14:102368104	0	T	102368104	G	T	102368104	4	4	88	1	0	0	0	0	0	1	0	0	12468	943	33	3	1304	3	PPP2R5C	14	102368104	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339839	102368104	4981436	14479	22191											
DYNC1H1	1778	broad.mit.edu	37	chr14	102446777	102446777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggctaaacttggaacgtgCgttataccgcatccaggaga	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102446777C>T	ENST00000360184.4	+	5	1015	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	284	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTGGAACGTGCGTTATACCGC	0.463													False	0	False	14:102446777	0	T	102446777	C	T	102446777	3	4	88	1	0	0	0	0	1	0	0	0	4871	768	27	1	869	1	DYNC1H1	14	102446777	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78673	102446777	4902763	14480	22192											
DYNC1H1	1778	broad.mit.edu	37	chr14	102453024	102453024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatcgcagaaggcattgCgttggtgtgggagtcctaca	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102453024C>T	ENST00000360184.4	+	8	2626	c.2462C>T	c.(2461-2463)gCg>gTg	p.A821V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	821	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAAGGCATTGCGTTGGTGTGG	0.502													False	0	False	14:102453024	0	T	102453024	C	T	102453024	3	4	88	1	0	0	0	0	1	0	0	0	4871	768	27	1	2492	1	DYNC1H1	14	102453024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6247	102453024	4896516	14481	22193											
DYNC1H1	1778	broad.mit.edu	37	chr14	102467348	102467348	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagcttccctgcccggttgCgacagtatgcgtcctatgag	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102467348C>T	ENST00000360184.4	+	19	4296	c.4132C>T	c.(4132-4134)Cga>Tga	p.R1378*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1378	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCCCGGTTGCGACAGTATGC	0.473													False	0	False	14:102467348	0	T	102467348	C	T	102467348	4	4	88	1	0	0	0	0	0	1	0	0	4871	760	27	1	4206	1	DYNC1H1	14	102467348	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14324	102467348	4882192	14482	22194											
DYNC1H1	1778	broad.mit.edu	37	chr14	102472334	102472334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcgattttactttgaccCtaagcaaactgatgtgttac	8	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102472334C>A	ENST00000360184.4	+	27	5707	c.5543C>A	c.(5542-5544)cCt>cAt	p.P1848H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1848	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TACTTTGACCCTAAGCAAACT	0.418													False	0	True	14:102472334	0	A	102472334	C	A	102472334	3	1	88	1	0	0	0	0	1	0	0	0	4871	681	24	3	5649	3	DYNC1H1	14	102472334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4986	102472334	4877206	14483	22195											
DYNC1H1	1778	broad.mit.edu	37	chr14	102482234	102482234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgcaaccgtacttcacGtccaacggcctggtcaccaa	7	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102482234G>A	ENST00000360184.4	+	36	7448	c.7284G>A	c.(7282-7284)acG>acA	p.T2428T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2428	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGTACTTCACGTCCAACGGCC	0.532													False	0	False	14:102482234	0	A	102482234	G	A	102482234	2	1	88	1	0	0	0	0	0	0	0	1	4871	1132	40	1		1	DYNC1H1	14	102482234	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9900	102482234	4867306	14484	22196											
DYNC1H1	1778	broad.mit.edu	37	chr14	102493837	102493837	+	Missense_Mutation	SNP	T	T	C													atgaatctaatgtgttagatTctggattcctggagcgaatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102493837T>C	ENST00000360184.4	+	46	9168	c.9004T>C	c.(9004-9006)Tct>Cct	p.S3002P		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3002	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGTGTTAGATTCTGGATTCCT	0.433													False	0	False	14:102493837	0	C	102493837	T	C	102493837	3	2	88	1	0	0	0	0	1	0	0	0	4871	1783	62	4	9186	4	DYNC1H1	14	102493837	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11603	102493837	4855703	14485	22197	240	2									
DYNC1H1	1778	broad.mit.edu	37	chr14	102493846	102493846	+	Missense_Mutation	SNP	C	C	A													atgtgttagattctggattcCtggagcgaatgaataccctt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102493846C>A	ENST00000360184.4	+	46	9177	c.9013C>A	c.(9013-9015)Ctg>Atg	p.L3005M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3005	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCTGGATTCCTGGAGCGAAT	0.433													False	0	False	14:102493846	0	A	102493846	C	A	102493846	3	1	88	1	0	0	0	0	1	0	0	0	4871	680	24	3	9195	3	DYNC1H1	14	102493846	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	102493846	4855694	14486	22198	240	2									
DYNC1H1	1778	broad.mit.edu	37	chr14	102498609	102498609	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactcctgctgccactcagCtgtgaagtcgatcaagaagc	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102498609C>A	ENST00000360184.4	+	52	10048	c.9884C>A	c.(9883-9885)gCt>gAt	p.A3295D		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3295	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCCACTCAGCTGTGAAGTCG	0.567													False	0	False	14:102498609	0	A	102498609	C	A	102498609	5	1	88	1	0	0	0	0	0	0	1	0	4871	811	28	3	10090	3	DYNC1H1	14	102498609	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4763	102498609	4850931	14487	22199											
DYNC1H1	1778	broad.mit.edu	37	chr14	102505518	102505518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatgcaggaggtggagaCcgtgtcccagcagtacctcc	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102505518C>A	ENST00000360184.4	+	60	11551	c.11387C>A	c.(11386-11388)aCc>aAc	p.T3796N	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3796					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGGTGGAGACCGTGTCCCAG	0.577													False	0	False	14:102505518	0	A	102505518	C	A	102505518	3	1	88	1	0	0	0	0	1	0	0	0	4871	507	18	3	11625	3	DYNC1H1	14	102505518	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6909	102505518	4844022	14488	22200											
DYNC1H1	1778	broad.mit.edu	37	chr14	102510214	102510214	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcactttcctcaccagtcTcccaacgagcgtgcccgctt	8	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102510214T>C	ENST00000360184.4	+	70	12680	c.12516T>C	c.(12514-12516)tcT>tcC	p.S4172S	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4172	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTCACCAGTCTCCCAACGAGC	0.507													False	0	True	14:102510214	0	C	102510214	T	C	102510214	2	2	88	1	0	0	0	0	0	0	0	1	4871	1538	54	4		4	DYNC1H1	14	102510214	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4696	102510214	4839326	14489	22201											
DYNC1H1	1778	broad.mit.edu	37	chr14	102514985	102514985	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaccaactacttgcgcacgCtgatcaacgagctagtgaaa	9	11	1	3	rs1127284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102514985C>T	ENST00000360184.4	+	74	13515	c.13351C>T	c.(13351-13353)Ctg>Ttg	p.L4451L	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4451					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTTGCGCACGCTGATCAACGA	0.602													False	0	False	14:102514985	0	T	102514985	C	T	102514985	2	4	88	1	0	0	0	0	0	0	0	1	4871	796	28	2		2	DYNC1H1	14	102514985	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4771	102514985	4834555	14490	22202											
HSP90AA1	3320	broad.mit.edu	37	chr14	102548126	102548126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagttacagcagcactggTatcatcagcagtagggtcat	10	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102548126T>C	ENST00000334701.7	-	12	2769	c.2488A>G	c.(2488-2490)Acc>Gcc	p.T830A	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.T708A	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	708					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GCAGCACTGGTATCATCAGCA	0.413													False	0	False	14:102548126	0	C	102548126	T	C	102548126	3	2	88	1	0	0	0	0	1	0	0	0	7450	1638	57	4	80	4	HSP90AA1	14	102548126	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33141	102548126	4801414	14491	22203											
HSP90AA1	3320	broad.mit.edu	37	chr14	102549964	102549964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccatctcatcaccagaggCagatgtgtagtaccttaaca	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102549964C>T	ENST00000334701.7	-	9	2052	c.1771G>A	c.(1771-1773)Gcc>Acc	p.A591T	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.A469T|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.A290T	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	469					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCACCAGAGGCAGATGTGTAG	0.388													False	0	False	14:102549964	0	T	102549964	C	T	102549964	3	4	88	1	0	0	0	0	1	0	0	0	7450	710	25	2	809	2	HSP90AA1	14	102549964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1838	102549964	4799576	14492	22204											
ZNF839	55778	broad.mit.edu	37	chr14	102792469	102792469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggtggggctccatatcGccagccctcagctgctcagg	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102792469G>A	ENST00000262236.5	+	2	443	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	ZNF839_ENST00000558850.1_Missense_Mutation_p.A30T|ZNF839_ENST00000559185.1_Missense_Mutation_p.A30T|ZNF839_ENST00000442396.2_Missense_Mutation_p.A146T	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	30						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTCCATATCGCCAGCCCTCA	0.582													False	0	False	14:102792469	0	A	102792469	G	A	102792469	3	1	88	1	0	0	0	0	1	0	0	0	18270	1087	38	1	442	1	ZNF839	14	102792469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242505	102792469	4557071	14493	22205											
CINP	51550	broad.mit.edu	37	chr14	102822114	102822114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtcttaccaacccatcCaaggtggcctgcagttcctc	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102822114C>T	ENST00000216756.6	-	3	337	c.297G>A	c.(295-297)ttG>ttA	p.L99L	CINP_ENST00000541568.2_Silent_p.L99L|CINP_ENST00000536961.2_Silent_p.L114L	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	99					cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding			large_intestine(2)|lung(2)	4						CCAACCCATCCAAGGTGGCCT	0.498													False	0	False	14:102822114	0	T	102822114	C	T	102822114	2	4	88	1	0	0	0	0	0	0	0	1	3454	593	21	2		2	CINP	14	102822114	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29645	102822114	4527426	14494	22206											
TECPR2	9895	broad.mit.edu	37	chr14	102900983	102900983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatgatggaccaaataGcacacagttacccttccaag	8	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102900983G>T	ENST00000359520.7	+	9	2055	c.1829G>T	c.(1828-1830)aGc>aTc	p.S610I	TECPR2_ENST00000558678.1_Missense_Mutation_p.S610I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	610							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGACCAAATAGCACACAGTTA	0.567													False	0	True	14:102900983	0	T	102900983	G	T	102900983	3	4	88	1	0	0	0	0	1	0	0	0	15826	971	34	3	1859	3	TECPR2	14	102900983	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78869	102900983	4448557	14495	22207											
TECPR2	9895	broad.mit.edu	37	chr14	102901147	102901147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtgctgaacagtggctgCctgggaccagagctgatgaa	14	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102901147C>T	ENST00000359520.7	+	9	2219	c.1993C>T	c.(1993-1995)Cct>Tct	p.P665S	TECPR2_ENST00000558678.1_Missense_Mutation_p.P665S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	665							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ACAGTGGCTGCCTGGGACCAG	0.597													False	0	False	14:102901147	0	T	102901147	C	T	102901147	3	4	88	1	0	0	0	0	1	0	0	0	15826	739	26	2	2023	2	TECPR2	14	102901147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164	102901147	4448393	14496	22208											
RCOR1	23186	broad.mit.edu	37	chr14	103174849	103174849	+	Nonsense_Mutation	SNP	G	G	A													gtgaaattttactattcttgGaagaagacgaggactaaaac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103174849G>A	ENST00000262241.6	+	6	934	c.708G>A	c.(706-708)tgG>tgA	p.W236*	RCOR1_ENST00000570597.1_Nonsense_Mutation_p.W233*	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	233	Interaction with HDAC1.|SANT 1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ACTATTCTTGGAAGAAGACGA	0.383													False	0	False	14:103174849	0	A	103174849	G	A	103174849	4	1	88	1	0	0	0	0	0	1	0	0	13261	1183	41	2	721	2	RCOR1	14	103174849	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273702	103174849	4174691	14497	22209	241	2									
RCOR1	23186	broad.mit.edu	37	chr14	103174857	103174857	+	Missense_Mutation	SNP	C	C	T													ttactattcttggaagaagaCgaggactaaaactagtgtga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103174857C>T	ENST00000262241.6	+	6	942	c.716C>T	c.(715-717)aCg>aTg	p.T239M	RCOR1_ENST00000570597.1_Missense_Mutation_p.T236M	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	236	Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TGGAAGAAGACGAGGACTAAA	0.403													False	0	False	14:103174857	0	T	103174857	C	T	103174857	3	4	88	1	0	0	0	0	1	0	0	0	13261	536	19	1	729	1	RCOR1	14	103174857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	103174857	4174683	14498	22210	241	2									
CDC42BPB	9578	broad.mit.edu	37	chr14	103404690	103404690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcctggatggaggctggCgagccaggttggtgggagcg	20	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103404690C>T	ENST00000361246.2	-	35	5174	c.4886G>A	c.(4885-4887)cGc>cAc	p.R1629H		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1629					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGGAGGCTGGCGAGCCAGGTT	0.662													False	0	False	14:103404690	0	T	103404690	C	T	103404690	3	4	88	1	0	0	0	0	1	0	0	0	3096	768	27	1	261	1	CDC42BPB	14	103404690	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229833	103404690	3944850	14499	22211											
CDC42BPB	9578	broad.mit.edu	37	chr14	103444469	103444469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatccagacatacctttccGttgtgaatgtaaaaccaatg	6	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103444469G>A	ENST00000361246.2	-	9	1502	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	405	AGC-kinase C-terminal.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ATACCTTTCCGTTGTGAATGT	0.453													False	0	False	14:103444469	0	A	103444469	G	A	103444469	3	1	88	1	0	0	0	0	1	0	0	0	3096	1145	40	1	4037	1	CDC42BPB	14	103444469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39779	103444469	3905071	14500	22212											
TNFAIP2	7127	broad.mit.edu	37	chr14	103597432	103597432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctggagagaggcaagcagCtgacgaattacagggccaat	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103597432C>T	ENST00000560869.1	+	7	1882	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	TNFAIP2_ENST00000451723.2_Silent_p.L84L|TNFAIP2_ENST00000333007.1_Silent_p.L415L			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	415					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AGGCAAGCAGCTGACGAATTA	0.557													False	0	False	14:103597432	0	T	103597432	C	T	103597432	2	4	88	1	0	0	0	0	0	0	0	1	16355	796	28	2		2	TNFAIP2	14	103597432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152963	103597432	3752108	14501	22213											
EIF5	1983	broad.mit.edu	37	chr14	103805668	103805668	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacaggcgccatttcctaCgagtaagcaaagtgctctgg	10	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103805668C>T	ENST00000216554.3	+	9	1580	c.904C>T	c.(904-906)Cga>Tga	p.R302*	EIF5_ENST00000558506.1_Nonsense_Mutation_p.R302*|EIF5_ENST00000392715.2_Nonsense_Mutation_p.R302*	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	302	W2.				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CCATTTCCTACGAGTAAGCAA	0.393													False	0	False	14:103805668	0	T	103805668	C	T	103805668	4	4	88	1	0	0	0	0	0	1	0	0	5072	528	19	1	930	1	EIF5	14	103805668	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208236	103805668	3543872	14502	22214											
MARK3	4140	broad.mit.edu	37	chr14	103958353	103958353	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taatctctttagtaaattaaCttcaaaactcacaaggaggt	5	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103958353C>A	ENST00000429436.2	+	15	2336	c.1826C>A	c.(1825-1827)aCt>aAt	p.T609N	MARK3_ENST00000216288.7_Missense_Mutation_p.T593N|MARK3_ENST00000416682.2_Missense_Mutation_p.T632N|MARK3_ENST00000335102.5_Missense_Mutation_p.T632N|MARK3_ENST00000440884.3_Missense_Mutation_p.T530N|MARK3_ENST00000553942.1_Missense_Mutation_p.T609N|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000303622.9_Missense_Mutation_p.T609N	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	609							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTAAATTAACTTCAAAACTC	0.463													False	0	False	14:103958353	0	A	103958353	C	A	103958353	3	1	88	1	0	0	0	0	1	0	0	0	9381	565	20	3	1884	3	MARK3	14	103958353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152685	103958353	3391187	14503	22215											
MARK3	4140	broad.mit.edu	37	chr14	103969356	103969356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccgcaaagtgttggacgCcaataactgcgactatgagc	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103969356C>T	ENST00000429436.2	+	18	2564	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	MARK3_ENST00000216288.7_Missense_Mutation_p.A645V|MARK3_ENST00000416682.2_Missense_Mutation_p.A684V|MARK3_ENST00000335102.5_Missense_Mutation_p.A708V|MARK3_ENST00000440884.3_Missense_Mutation_p.A591V|MARK3_ENST00000553942.1_Missense_Mutation_p.A676V|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000303622.9_Missense_Mutation_p.A661V	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	685							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GTGTTGGACGCCAATAACTGC	0.552													False	0	False	14:103969356	0	T	103969356	C	T	103969356	3	4	88	1	0	0	0	0	1	0	0	0	9381	739	26	2	2124	2	MARK3	14	103969356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11003	103969356	3380184	14504	22216											
MARK3	4140	broad.mit.edu	37	chr14	103969447	103969447	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacctcgtgcagtgggaaatGgaagtgtgcaagctgccaag	14	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103969447G>T	ENST00000429436.2	+	18	2655	c.2145G>T	c.(2143-2145)atG>atT	p.M715I	MARK3_ENST00000216288.7_Missense_Mutation_p.M675I|MARK3_ENST00000416682.2_Missense_Mutation_p.M714I|MARK3_ENST00000335102.5_Missense_Mutation_p.M738I|MARK3_ENST00000440884.3_Missense_Mutation_p.M621I|MARK3_ENST00000553942.1_Missense_Mutation_p.M706I|MARK3_ENST00000303622.9_Missense_Mutation_p.M691I	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	715	KA1.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTGGGAAATGGAAGTGTGCA	0.527													False	0	False	14:103969447	0	T	103969447	G	T	103969447	3	4	88	1	0	0	0	0	1	0	0	0	9381	1348	47	3	2215	3	MARK3	14	103969447	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	103969447	3380093	14505	22217											
CKB	1152	broad.mit.edu	37	chr14	103988793	103988793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgtcctcggccgggaagCgcagcttcagtgcgttgtgg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103988793C>T	ENST00000348956.2	-	2	395	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	13	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGCCGGGAAGCGCAGCTTCAG	0.711													False	0	False	14:103988793	0	T	103988793	C	T	103988793	3	4	88	1	0	0	0	0	1	0	0	0	3469	768	27	1	1135	1	CKB	14	103988793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19346	103988793	3360747	14506	22218											
TRMT61A	115708	broad.mit.edu	37	chr14	103996563	103996563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgctgaacctgccgcaccGcacgcagatcctctactcca	8	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103996563G>A	ENST00000389749.4	+	2	355	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	83						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						CTGCCGCACCGCACGCAGATC	0.642													False	0	True	14:103996563	0	A	103996563	G	A	103996563	3	1	88	1	0	0	0	0	1	0	0	0	16652	1087	38	1	250	1	TRMT61A	14	103996563	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7770	103996563	3352977	14507	22219											
BAG5	9529	broad.mit.edu	37	chr14	104026472	104026472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcaagtcaatatatgTgatcagagtttgcacctcga	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104026472T>C	ENST00000445922.2	-	2	1276	c.1030A>G	c.(1030-1032)Aca>Gca	p.T344A	BAG5_ENST00000337322.4_Missense_Mutation_p.T385A|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.T344A	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	344	BAG 4.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TCAATATATGTGATCAGAGTT	0.478													False	0	False	14:104026472	0	C	104026472	T	C	104026472	3	2	88	1	0	0	0	0	1	0	0	0	1294	1696	59	4	317	4	BAG5	14	104026472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29909	104026472	3323068	14508	22220											
KLC1	3831	broad.mit.edu	37	chr14	104143826	104143826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaatttgaagctgcagaaaCgttagaagaagctgctatga	10	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104143826C>T	ENST00000389744.4	+	12	1723	c.1454C>T	c.(1453-1455)aCg>aTg	p.T485M	KLC1_ENST00000380038.3_Missense_Mutation_p.T485M|KLC1_ENST00000554280.1_Missense_Mutation_p.T485M|KLC1_ENST00000555836.1_Missense_Mutation_p.T485M|KLC1_ENST00000348520.6_Missense_Mutation_p.T485M|KLC1_ENST00000557450.1_Missense_Mutation_p.T485M|KLC1_ENST00000452929.2_Missense_Mutation_p.T485M|KLC1_ENST00000347839.6_Missense_Mutation_p.T485M|KLC1_ENST00000445352.4_Missense_Mutation_p.T483M|KLC1_ENST00000557575.1_Missense_Mutation_p.T485M|KLC1_ENST00000553286.1_Missense_Mutation_p.T485M|KLC1_ENST00000246489.7_Missense_Mutation_p.T485M|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.T657M|KLC1_ENST00000334553.6_Missense_Mutation_p.T485M			Q07866	KLC1_HUMAN	kinesin light chain 1	485					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GCTGCAGAAACGTTAGAAGAA	0.418													False	0	True	14:104143826	0	T	104143826	C	T	104143826	3	4	88	1	0	0	0	0	1	0	0	0	8383	536	19	1	1496	1	KLC1	14	104143826	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117354	104143826	3205714	14509	22221											
TDRD9	122402	broad.mit.edu	37	chr14	104473017	104473017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagaatttttttgcaatGcctttccggcagcatctcga	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104473017G>A	ENST00000409874.4	+	17	1962	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	TDRD9_ENST00000339063.5_Missense_Mutation_p.M638I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	638					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TTTTTGCAATGCCTTTCCGGC	0.328													False	0	False	14:104473017	0	A	104473017	G	A	104473017	3	1	88	1	0	0	0	0	1	0	0	0	15818	1319	46	2	1980	2	TDRD9	14	104473017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329191	104473017	2876523	14510	22222											
KIF26A	26153	broad.mit.edu	37	chr14	104639499	104639499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgcgggacctgctggccGaggtggcccctggcagcctc	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104639499G>A	ENST00000315264.7	+	7	1567	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	KIF26A_ENST00000423312.2_Missense_Mutation_p.E536K			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	536	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTGCTGGCCGAGGTGGCCCC	0.721													False	0	False	14:104639499	0	A	104639499	G	A	104639499	3	1	88	1	0	0	0	0	1	0	0	0	8344	1059	37	1	1636	1	KIF26A	14	104639499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166482	104639499	2710041	14511	22223											
KIF26A	26153	broad.mit.edu	37	chr14	104642801	104642801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacccgtgtgggctgtGctcgcctgggccagagccca	13	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104642801G>A	ENST00000315264.7	+	11	3637	c.3259G>A	c.(3259-3261)Gct>Act	p.A1087T	KIF26A_ENST00000423312.2_Missense_Mutation_p.A1226T			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1226					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGTGGGCTGTGCTCGCCTGGG	0.697													False	0	False	14:104642801	0	A	104642801	G	A	104642801	3	1	88	1	0	0	0	0	1	0	0	0	8344	1319	46	2	3722	2	KIF26A	14	104642801	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3302	104642801	2706739	14512	22224											
TMEM179	388021	broad.mit.edu	37	chr14	105063451	105063451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaggaggttcaggaaggCggagaagaaggagctgcagc	18	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105063451C>T	ENST00000341595.3	-	2	1224	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	TMEM179_ENST00000556573.1_Missense_Mutation_p.A107T	NM_207379.1	NP_997262.1	Q6ZVK1	T179A_HUMAN	transmembrane protein 179	107						integral to membrane				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		TTCAGGAAGGCGGAGAAGAAG	0.632													False	0	False	14:105063451	0	T	105063451	C	T	105063451	3	4	88	1	0	0	0	0	1	0	0	0	16178	768	27	1	282	1	TMEM179	14	105063451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	420650	105063451	2286089	14513	22225											
INF2	64423	broad.mit.edu	37	chr14	105174179	105174179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccactactgccctgcacCtgcagcccccccgtggcggg	10	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105174179C>T	ENST00000392634.4	+	8	1687	c.1575C>T	c.(1573-1575)acC>acT	p.T525T	INF2_ENST00000330634.7_Silent_p.T525T	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	525					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGCCCTGCACCTGCAGCCCCC	0.716													False	0	True	14:105174179	0	T	105174179	C	T	105174179	2	4	88	1	0	0	0	0	0	0	0	1	7784	668	24	2		2	INF2	14	105174179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110728	105174179	2175361	14514	22226											
INF2	64423	broad.mit.edu	37	chr14	105174224	105174224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggaggaggtcatcgtggcCcaggtggaccatggcttggg	18	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105174224C>T	ENST00000392634.4	+	8	1732	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A	INF2_ENST00000330634.7_Silent_p.A540A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	540					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCATCGTGGCCCAGGTGGACC	0.667													False	0	True	14:105174224	0	T	105174224	C	T	105174224	2	4	88	1	0	0	0	0	0	0	0	1	7784	610	22	2		2	INF2	14	105174224	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	105174224	2175316	14515	22227											
INF2	64423	broad.mit.edu	37	chr14	105177986	105177986	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagcggaaaagagccacccCgacctcctgcagctgccccg	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105177986C>T	ENST00000392634.4	+	16	2551	c.2439C>T	c.(2437-2439)ccC>ccT	p.P813P	INF2_ENST00000330634.7_Silent_p.P813P	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	813	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGAGCCACCCCGACCTCCTGC	0.647													False	0	True	14:105177986	0	T	105177986	C	T	105177986	2	4	88	1	0	0	0	0	0	0	0	1	7784	639	23	1		1	INF2	14	105177986	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3762	105177986	2171554	14516	22228											
INF2	64423	broad.mit.edu	37	chr14	105179212	105179212	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgagctgtttgaggccatCgagcagaagcaacgggagct	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105179212C>T	ENST00000392634.4	+	18	2770	c.2658C>T	c.(2656-2658)atC>atT	p.I886I	INF2_ENST00000330634.7_Silent_p.I886I	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	886	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TTGAGGCCATCGAGCAGAAGC	0.652													False	0	False	14:105179212	0	T	105179212	C	T	105179212	2	4	88	1	0	0	0	0	0	0	0	1	7784	874	31	1		1	INF2	14	105179212	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1226	105179212	2170328	14517	22229											
INF2	64423	broad.mit.edu	37	chr14	105179914	105179914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggggcagcaaggcagcctCcatggatcccccaagagcca	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105179914C>T	ENST00000392634.4	+	20	3123	c.3011C>T	c.(3010-3012)tCc>tTc	p.S1004F	INF2_ENST00000330634.7_Missense_Mutation_p.S1004F	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1004					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AAGGCAGCCTCCATGGATCCC	0.652													False	0	False	14:105179914	0	T	105179914	C	T	105179914	3	4	88	1	0	0	0	0	1	0	0	0	7784	855	30	2	3089	2	INF2	14	105179914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	702	105179914	2169626	14518	22230											
INF2	64423	broad.mit.edu	37	chr14	105180722	105180722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccacggcccctggagaggCgttcttcctggtatgtggat	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105180722C>T	ENST00000392634.4	+	21	3335	c.3223C>T	c.(3223-3225)Cgt>Tgt	p.R1075C	INF2_ENST00000330634.7_Missense_Mutation_p.R1075C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1075					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCTGGAGAGGCGTTCTTCCTG	0.677													False	0	False	14:105180722	0	T	105180722	C	T	105180722	3	4	88	1	0	0	0	0	1	0	0	0	7784	768	27	1	3305	1	INF2	14	105180722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	808	105180722	2168818	14519	22231											
INF2	64423	broad.mit.edu	37	chr14	105181089	105181089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtccttctccgaggatgCggtgaccgactcctcggggt	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105181089C>T	ENST00000392634.4	+	21	3702	c.3590C>T	c.(3589-3591)gCg>gTg	p.A1197V	INF2_ENST00000330634.7_Missense_Mutation_p.A1197V	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1197					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCGAGGATGCGGTGACCGAC	0.687													False	0	False	14:105181089	0	T	105181089	C	T	105181089	3	4	88	1	0	0	0	0	1	0	0	0	7784	768	27	1	3672	1	INF2	14	105181089	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367	105181089	2168451	14520	22232											
ADSSL1	122622	broad.mit.edu	37	chr14	105208312	105208312	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tataccacacgtgtgggcatCggggccttccccaccgagca	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105208312C>T	ENST00000332972.5	+	9	1209	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	ADSSL1_ENST00000330877.2_Silent_p.I307I	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	307					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GTGTGGGCATCGGGGCCTTCC	0.682													False	0	True	14:105208312	0	T	105208312	C	T	105208312	2	4	88	1	0	0	0	0	0	0	0	1	348	874	31	1		1	ADSSL1	14	105208312	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27223	105208312	2141228	14521	22233											
SIVA1	10572	broad.mit.edu	37	chr14	105222077	105222077	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaagcctggccctacaGgggccccgagggctgcacgt	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105222077G>T	ENST00000329967.6	+	2	331	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	77					activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		TGGCCCTACAGGGGCCCCGAG	0.667													False	0	True	14:105222077	0	T	105222077	G	T	105222077	3	4	88	1	0	0	0	0	1	0	0	0	14426	1000	35	3	235	3	SIVA1	14	105222077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13765	105222077	2127463	14522	22234											
AKT1	207	broad.mit.edu	37	chr14	105242041	105242041	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcttcagcccctgagTtgtcactgggtgagcccgac	10	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105242041T>C	ENST00000554581.1	-	4	1863	c.383A>G	c.(382-384)aAc>aGc	p.N128S	AKT1_ENST00000554848.1_Missense_Mutation_p.N128S|AKT1_ENST00000407796.2_Missense_Mutation_p.N128S|AKT1_ENST00000555528.1_Missense_Mutation_p.N128S|AKT1_ENST00000349310.3_Missense_Mutation_p.N128S|AKT1_ENST00000402615.2_Missense_Mutation_p.N128S|AKT1_ENST00000544168.1_Missense_Mutation_p.N66S			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	128					activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AGCCCCTGAGTTGTCACTGGG	0.637		1	Mis		"breast, colorectal, ovarian, NSCLC"								False	0	False	14:105242041	0	C	105242041	T	C	105242041	3	2	88	1	0	0	0	0	1	0	0	0	478	1725	60	4	1099	4	AKT1	14	105242041	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19964	105242041	2107499	14523	22235											
AKT1	207	broad.mit.edu	37	chr14	105258975	105258975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcacaatagccacgtcGctcatggtgcccgaggctcc	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105258975G>A	ENST00000554581.1	-	1	1486	c.6C>T	c.(4-6)agC>agT	p.S2S	AKT1_ENST00000554848.1_Silent_p.S2S|AKT1_ENST00000407796.2_Silent_p.S2S|AKT1_ENST00000555528.1_Silent_p.S2S|AKT1_ENST00000349310.3_Silent_p.S2S|AKT1_ENST00000402615.2_Silent_p.S2S			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	2					activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGCCACGTCGCTCATGGTGC	0.672		1	Mis		"breast, colorectal, ovarian, NSCLC"								False	0	False	14:105258975	0	A	105258975	G	A	105258975	2	1	88	1	0	0	0	0	0	0	0	1	478	1078	38	1		1	AKT1	14	105258975	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16934	105258975	2090565	14524	22236											
AHNAK2	113146	broad.mit.edu	37	chr14	105407193	105407193	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacacaaactttggtttataGaatttaggaaaagatacctg	7	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105407193G>A	ENST00000333244.5	-	7	14714	c.14595C>T	c.(14593-14595)ttC>ttT	p.F4865F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4865						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGGTTTATAGAATTTAGGAA	0.488													False	0	False	14:105407193	0	A	105407193	G	A	105407193	2	1	88	1	0	0	0	0	0	0	0	1	415	933	33	2		2	AHNAK2	14	105407193	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148218	105407193	1942347	14525	22237											
AHNAK2	113146	broad.mit.edu	37	chr14	105408319	105408319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcggcctccatctttggcGcagacacatccaccgagacc	9	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105408319G>A	ENST00000333244.5	-	7	13588	c.13469C>T	c.(13468-13470)gCg>gTg	p.A4490V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4490						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCTTTGGCGCAGACACATC	0.572													False	0	False	14:105408319	0	A	105408319	G	A	105408319	3	1	88	1	0	0	0	0	1	0	0	0	415	1087	38	1	3922	1	AHNAK2	14	105408319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1126	105408319	1941221	14526	22238											
AHNAK2	113146	broad.mit.edu	37	chr14	105411530	105411530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccgccttggggacttttaGgtccagcttggggcccttga	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105411530G>T	ENST00000333244.5	-	7	10377	c.10258C>A	c.(10258-10260)Cta>Ata	p.L3420I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3420						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACTTTTAGGTCCAGCTTG	0.612													False	0	False	14:105411530	0	T	105411530	G	T	105411530	3	4	88	1	0	0	0	0	1	0	0	0	415	991	35	3	7133	3	AHNAK2	14	105411530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3211	105411530	1938010	14527	22239											
AHNAK2	113146	broad.mit.edu	37	chr14	105412761	105412761	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggaggctcacttcggcCtccaccttcggcgcagacac	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105412761C>T	ENST00000333244.5	-	7	9146	c.9027G>A	c.(9025-9027)gaG>gaA	p.E3009E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3009						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCACTTCGGCCTCCACCTTCG	0.612													False	0	False	14:105412761	0	T	105412761	C	T	105412761	2	4	88	1	0	0	0	0	0	0	0	1	415	680	24	2		2	AHNAK2	14	105412761	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1231	105412761	1936779	14528	22240											
AHNAK2	113146	broad.mit.edu	37	chr14	105412916	105412916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtcaccctccagccgtgCaccatccagctttgctctcg	8	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105412916C>T	ENST00000333244.5	-	7	8991	c.8872G>A	c.(8872-8874)Gca>Aca	p.A2958T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2958						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGCCGTGCACCATCCAGC	0.627													False	0	False	14:105412916	0	T	105412916	C	T	105412916	3	4	88	1	0	0	0	0	1	0	0	0	415	710	25	2	8519	2	AHNAK2	14	105412916	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	105412916	1936624	14529	22241											
AHNAK2	113146	broad.mit.edu	37	chr14	105414796	105414796	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgatggacttgccaagggcaGacaccccaaacgacagcatc	10	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105414796G>T	ENST00000333244.5	-	7	7111	c.6992C>A	c.(6991-6993)tCt>tAt	p.S2331Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2331						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCAAGGGCAGACACCCCAAA	0.602													False	0	False	14:105414796	0	T	105414796	G	T	105414796	3	4	88	1	0	0	0	0	1	0	0	0	415	942	33	3	10399	3	AHNAK2	14	105414796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1880	105414796	1934744	14530	22242											
AHNAK2	113146	broad.mit.edu	37	chr14	105416177	105416177	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagggagcggaatgcagaGgtccgtggtcttgaggtccc	17	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105416177G>T	ENST00000333244.5	-	7	5730	c.5611C>A	c.(5611-5613)Ctc>Atc	p.L1871I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1871						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAATGCAGAGGTCCGTGGTC	0.662													False	0	False	14:105416177	0	T	105416177	G	T	105416177	3	4	88	1	0	0	0	0	1	0	0	0	415	1000	35	3	11780	3	AHNAK2	14	105416177	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1381	105416177	1933363	14531	22243											
AHNAK2	113146	broad.mit.edu	37	chr14	105418648	105418648	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtagaagcaggctgaatgCtgaggtcagtggtcttcagg	15	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105418648C>A	ENST00000333244.5	-	7	3259	c.3140G>T	c.(3139-3141)aGc>aTc	p.S1047I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1047						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGCTGAATGCTGAGGTCAGT	0.617													False	0	False	14:105418648	0	A	105418648	C	A	105418648	3	1	88	1	0	0	0	0	1	0	0	0	415	797	28	3	14251	3	AHNAK2	14	105418648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2471	105418648	1930892	14532	22244											
AHNAK2	113146	broad.mit.edu	37	chr14	105419440	105419440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctgtcacttccgccttgGggcctttcaggtccagcttg	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105419440G>T	ENST00000333244.5	-	7	2467	c.2348C>A	c.(2347-2349)cCc>cAc	p.P783H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	783						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCCGCCTTGGGGCCTTTCAG	0.627													False	0	True	14:105419440	0	T	105419440	G	T	105419440	3	4	88	1	0	0	0	0	1	0	0	0	415	1232	43	3	15043	3	AHNAK2	14	105419440	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	792	105419440	1930100	14533	22245											
AHNAK2	113146	broad.mit.edu	37	chr14	105420293	105420293	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctctttctggctctttttCtgtggaaaatgcaaattttg	7	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105420293C>A	ENST00000333244.5	-	7	1614	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	499						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTCTTTTTCTGTGGAAAAT	0.507													False	0	True	14:105420293	0	A	105420293	C	A	105420293	4	1	88	1	0	0	0	0	0	1	0	0	415	922	32	3	15896	3	AHNAK2	14	105420293	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	853	105420293	1929247	14534	22246											
CDCA4	55038	broad.mit.edu	37	chr14	105477705	105477705	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgtgtccaggtcgtagtAggggctgtccacgtctgaga	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105477705A>G	ENST00000336219.3	-	2	717	c.562T>C	c.(562-564)Tac>Cac	p.Y188H	CDCA4_ENST00000392590.3_Missense_Mutation_p.Y188H	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	188						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		AGGTCGTAGTAGGGGCTGTCC	0.587													False	0	True	14:105477705	0	G	105477705	A	G	105477705	3	3	88	1	0	0	0	0	1	0	0	0	3111	420	15	4	167	4	CDCA4	14	105477705	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	57412	105477705	1871835	14535	22247											
GPR132	29933	broad.mit.edu	37	chr14	105517442	105517442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggcgactgcagctcctcGgtgtccctgctgtgggtgag	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105517442G>A	ENST00000329797.3	-	4	1943	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	GPR132_ENST00000392585.2_Silent_p.T335T|GPR132_ENST00000539291.2_Silent_p.T344T	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	344					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCAGCTCCTCGGTGTCCCTGC	0.607													False	0	False	14:105517442	0	A	105517442	G	A	105517442	2	1	88	1	0	0	0	0	0	0	0	1	6688	1103	39	1		1	GPR132	14	105517442	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39737	105517442	1832098	14536	22248											
JAG2	3714	broad.mit.edu	37	chr14	105613723	105613723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcggaaccagttgacgcCgtcaacacagatgccaccat	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105613723C>T	ENST00000331782.3	-	20	2822	c.2419G>A	c.(2419-2421)Ggc>Agc	p.G807S	JAG2_ENST00000347004.2_Missense_Mutation_p.G769S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	807	EGF-like 15; calcium-binding (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CAGTTGACGCCGTCAACACAG	0.667													False	0	False	14:105613723	0	T	105613723	C	T	105613723	3	4	88	1	0	0	0	0	1	0	0	0	7985	652	23	1	1325	1	JAG2	14	105613723	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96281	105613723	1735817	14537	22249											
JAG2	3714	broad.mit.edu	37	chr14	105614748	105614748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcagcggccgcggctgtgGcagggatcgggaaggcagtc	19	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105614748G>A	ENST00000331782.3	-	16	2452	c.2049C>T	c.(2047-2049)tgC>tgT	p.C683C	JAG2_ENST00000347004.2_Silent_p.C645C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	683	EGF-like 12; calcium-binding (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CGCGGCTGTGGCAGGGATCGG	0.692													False	0	False	14:105614748	0	A	105614748	G	A	105614748	2	1	88	1	0	0	0	0	0	0	0	1	7985	1195	42	2		2	JAG2	14	105614748	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1025	105614748	1734792	14538	22250											
JAG2	3714	broad.mit.edu	37	chr14	105617706	105617706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaggtgccaccggccgcaCacgggttcgaagcacactca	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105617706C>T	ENST00000331782.3	-	9	1584	c.1181G>A	c.(1180-1182)tGt>tAt	p.C394Y	JAG2_ENST00000347004.2_Missense_Mutation_p.C394Y	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	394	EGF-like 5; calcium-binding (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACCGGCCGCACACGGGTTCGA	0.657													False	0	False	14:105617706	0	T	105617706	C	T	105617706	3	4	88	1	0	0	0	0	1	0	0	0	7985	478	17	2	2607	2	JAG2	14	105617706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2958	105617706	1731834	14539	22251											
JAG2	3714	broad.mit.edu	37	chr14	105621927	105621927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcacggtgcatccccCgtggagcaaattacaccctt	9	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105621927C>T	ENST00000331782.3	-	5	1163	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	JAG2_ENST00000347004.2_Missense_Mutation_p.G254R|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	254	EGF-like 1.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTGCATCCCCCGTGGAGCAAA	0.647													False	0	True	14:105621927	0	T	105621927	C	T	105621927	3	4	88	1	0	0	0	0	1	0	0	0	7985	652	23	1	3044	1	JAG2	14	105621927	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4221	105621927	1727613	14540	22252											
NUDT14	256281	broad.mit.edu	37	chr14	105643299	105643299	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaccccagctggcctcaCctggccggaactgcttcacc	8	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105643299C>T	ENST00000392568.2	-	3	284		c.e3+1		RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14							cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCTGGCCTCACCTGGCCGGAA	0.612										HNSCC(42;0.11)			False	0	False	14:105643299	0	T	105643299	C	T	105643299	5	4	88	1	0	0	0	0	0	0	1	0	10798	521	18	2	489	2	NUDT14	14	105643299	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21372	105643299	1706241	14541	22253											
BRF1	2972	broad.mit.edu	37	chr14	105677562	105677562	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggtatgacacgggcccGctctccaccagcaccgcctg	12	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105677562G>A	ENST00000546474.1	-	17	16852	c.1893C>T	c.(1891-1893)agC>agT	p.S631S	BRF1_ENST00000446501.2_Silent_p.S393S|BRF1_ENST00000440513.3_Silent_p.S538S|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Silent_p.S604S|BRF1_ENST00000327359.3_Silent_p.S516S|BRF1_ENST00000547530.1_Silent_p.S157S|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000392557.4_Silent_p.S427S	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	631					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACACGGGCCCGCTCTCCACCA	0.667													False	0	True	14:105677562	0	A	105677562	G	A	105677562	2	1	88	1	0	0	0	0	0	0	0	1	1517	1078	38	1		1	BRF1	14	105677562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34263	105677562	1671978	14542	22254											
BRF1	2972	broad.mit.edu	37	chr14	105695248	105695248	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattctggctgcaaccaggaGcgctggaaggcaacgagacg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105695248G>T	ENST00000546474.1	-	7	15656	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	BRF1_ENST00000446501.2_5'UTR|BRF1_ENST00000440513.3_Missense_Mutation_p.L118I|BRF1_ENST00000379932.4_Missense_Mutation_p.L29I|BRF1_ENST00000379937.2_Missense_Mutation_p.L206I|BRF1_ENST00000327359.3_Missense_Mutation_p.L118I|BRF1_ENST00000551787.1_Missense_Mutation_p.L29I|BRF1_ENST00000392557.4_Missense_Mutation_p.L29I	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	233					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCAACCAGGAGCGCTGGAAGG	0.607													False	0	False	14:105695248	0	T	105695248	G	T	105695248	3	4	88	1	0	0	0	0	1	0	0	0	1517	971	34	3	1384	3	BRF1	14	105695248	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17686	105695248	1654292	14543	22255											
BRF1	2972	broad.mit.edu	37	chr14	105739099	105739099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccaggtagaggcaggcaGcaatcacgtgggccatcttc	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105739099G>A	ENST00000546474.1	-	3	15357	c.398C>T	c.(397-399)gCt>gTt	p.A133V	BRF1_ENST00000440513.3_Missense_Mutation_p.A18V|BRF1_ENST00000548421.1_Missense_Mutation_p.A133V|BRF1_ENST00000379937.2_Missense_Mutation_p.A106V|BRF1_ENST00000327359.3_Missense_Mutation_p.A18V	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	133					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GAGGCAGGCAGCAATCACGTG	0.622													False	0	True	14:105739099	0	A	105739099	G	A	105739099	3	1	88	1	0	0	0	0	1	0	0	0	1517	971	34	2	1699	2	BRF1	14	105739099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43851	105739099	1610441	14544	22256											
MTA1	9112	broad.mit.edu	37	chr14	105905013	105905013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgctgtttgcagactaCgtctactttgagaactcctc	8	11	1	2	rs148162904		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105905013C>T	ENST00000331320.7	+	2	247	c.33C>T	c.(31-33)taC>taT	p.Y11Y	MTA1_ENST00000406191.1_Silent_p.Y11Y|MTA1_ENST00000405646.1_Silent_p.Y11Y	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	11	BAH.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y11Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TTGCAGACTACGTCTACTTTG	0.612													False	0	False	14:105905013	0	T	105905013	C	T	105905013	2	4	88	1	0	0	0	0	0	0	0	1	9975	547	19	1		1	MTA1	14	105905013	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165914	105905013	1444527	14545	22257											
CRIP2	1397	broad.mit.edu	37	chr14	105945984	105945984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccccgaaggcaaggtccaGccctaggctacagcggctct	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105945984G>T	ENST00000329146.4	+	8	1334	c.621G>T	c.(619-621)caG>caT	p.Q207H	CRIP2_ENST00000483017.3_Missense_Mutation_p.Q281H|CRIP2_ENST00000548989.1_3'UTR	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	207							zinc ion binding			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GCAAGGTCCAGCCCTAGGCTA	0.677													False	0	True	14:105945984	0	T	105945984	G	T	105945984	3	4	88	1	0	0	0	0	1	0	0	0	3898	962	34	3	651	3	CRIP2	14	105945984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40971	105945984	1403556	14546	22258											
TMEM121	80757	broad.mit.edu	37	chr14	105995269	105995269	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtacctggtggagcagaAccagggcccgcgcaagatcg	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105995269A>C	ENST00000392519.2	+	2	262	c.98A>C	c.(97-99)aAc>aCc	p.N33T	TMEM121_ENST00000431372.1_Missense_Mutation_p.N33T	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	33						integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GTGGAGCAGAACCAGGGCCCG	0.687													False	0	False	14:105995269	0	C	105995269	A	C	105995269	3	2	88	1	0	0	0	0	1	0	0	0	16117	43	2	4	100	4	TMEM121	14	105995269	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49285	105995269	1354271	14547	22259											
OR4N4	283694	broad.mit.edu	37	chr15	22382753	22382753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaaaggtaatctcctAcagaggctgcatcactcagc	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22382753A>G	ENST00000328795.4	+	1	372	c.281A>G	c.(280-282)tAc>tGc	p.Y94C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTAATCTCCTACAGAGGCTGC	0.502													False	0	False	15:22382753	0	G	22382753	A	G	22382753	3	3	88	1	0	0	0	0	1	0	0	0	11146	391	14	4	283	4	OR4N4	15	22382753	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08		22382753	80148639	14548	22260											
OR4N4	283694	broad.mit.edu	37	chr15	22383287	22383287	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accagctgacaagatggtttCtctctttcacacagtgatct	7	11	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22383287C>A	ENST00000328795.4	+	1	906	c.815C>A	c.(814-816)tCt>tAt	p.S272Y	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S272Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AAGATGGTTTCTCTCTTTCAC	0.418													False	0	True	15:22383287	0	A	22383287	C	A	22383287	3	1	88	1	0	0	0	0	1	0	0	0	11146	913	32	3	817	3	OR4N4	15	22383287	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534	22383287	80148105	14549	22261											
CYFIP1	23191	broad.mit.edu	37	chr15	23002959	23002959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctggataagtacctgaaGtcaggcgacggggagggcac	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23002959G>A	ENST00000313077.7	+	31	3806	c.3681G>A	c.(3679-3681)aaG>aaA	p.K1227K	CYFIP1_ENST00000560848.1_Silent_p.K1227K|CYFIP1_ENST00000435939.2_Silent_p.K796K	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1227					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGTACCTGAAGTCAGGCGACG	0.567													False	0	False	15:23002959	0	A	23002959	G	A	23002959	2	1	88	1	0	0	0	0	0	0	0	1	4162	1020	36	2		2	CYFIP1	15	23002959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	619672	23002959	79528433	14550	22262											
MKRN3	7681	broad.mit.edu	37	chr15	23810940	23810940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaagcagccatggaagagcCtgcagctccctcagaagccc	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23810940C>A	ENST00000314520.3	+	1	487	c.11C>A	c.(10-12)cCt>cAt	p.P4H	MKRN3_ENST00000568252.1_Missense_Mutation_p.P4H|MKRN3_ENST00000564592.1_Missense_Mutation_p.P4H	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	4						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATGGAAGAGCCTGCAGCTCCC	0.647													False	0	False	15:23810940	0	A	23810940	C	A	23810940	3	1	88	1	0	0	0	0	1	0	0	0	9675	681	24	3	13	3	MKRN3	15	23810940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	807981	23810940	78720452	14551	22263											
MKRN3	7681	broad.mit.edu	37	chr15	23811271	23811271	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcaaggagggggagaaCtgtcgctattcgcacgacct	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23811271C>A	ENST00000314520.3	+	1	818	c.342C>A	c.(340-342)aaC>aaA	p.N114K	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	114						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGGGGAGAACTGTCGCTATT	0.607													False	0	False	15:23811271	0	A	23811271	C	A	23811271	3	1	88	1	0	0	0	0	1	0	0	0	9675	564	20	3	344	3	MKRN3	15	23811271	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	331	23811271	78720121	14552	22264											
MKRN3	7681	broad.mit.edu	37	chr15	23812378	23812378	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtttctttcactgagagaTgagttacccttctctgagga	10	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23812378T>C	ENST00000314520.3	+	1	1925	c.1449T>C	c.(1447-1449)gaT>gaC	p.D483D	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	483						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CACTGAGAGATGAGTTACCCT	0.458													False	0	True	15:23812378	0	C	23812378	T	C	23812378	2	2	88	1	0	0	0	0	0	0	0	1	9675	1461	51	4		4	MKRN3	15	23812378	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1107	23812378	78719014	14553	22265											
MAGEL2	54551	broad.mit.edu	37	chr15	23889232	23889232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcccactcacactctgcgaGcgcttcaaggtaatggaatg	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23889232G>T	ENST00000532292.1	-	1	1943	c.1849C>A	c.(1849-1851)Ctc>Atc	p.L617I		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CACTCTGCGAGCGCTTCAAGG	0.552													False	0	False	15:23889232	0	T	23889232	G	T	23889232	3	4	88	1	0	0	0	0	1	0	0	0	9256	971	34	3	95	3	MAGEL2	15	23889232	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76854	23889232	78642160	14554	22266											
MAGEL2	54551	broad.mit.edu	37	chr15	23890438	23890438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatcctgcagagcatatgGcagtgactttggggtctctg	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23890438G>A	ENST00000532292.1	-	1	737	c.643C>T	c.(643-645)Cca>Tca	p.P215S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAGCATATGGCAGTGACTTT	0.562													False	0	False	15:23890438	0	A	23890438	G	A	23890438	3	1	88	1	0	0	0	0	1	0	0	0	9256	1203	42	2	1301	2	MAGEL2	15	23890438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1206	23890438	78640954	14555	22267											
NDN	4692	broad.mit.edu	37	chr15	23931896	23931896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtgtgcaggctggttaGcctcaggtgcagcccgaaca	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23931896G>A	ENST00000331837.4	-	1	554	c.469C>T	c.(469-471)Cta>Tta	p.L157L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	157	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGGCTGGTTAGCCTCAGGTGC	0.627									Prader-Willi syndrome				False	0	False	15:23931896	0	A	23931896	G	A	23931896	2	1	88	1	0	0	0	0	0	0	0	1	10315	962	34	2		2	NDN	15	23931896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41458	23931896	78599496	14556	22268											
SNRPN	6638	broad.mit.edu	37	chr15	25221477	25221477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatgcgaagcaaccagagCgtgaagaaaagcgggttttg	14	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25221477C>T	ENST00000444203.2	+	4	1232	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Missense_Mutation_p.R61C|SNRPN_ENST00000390687.4_Missense_Mutation_p.R61C|SNRPN_ENST00000400100.1_Missense_Mutation_p.R61C|SNRPN_ENST00000400098.1_Missense_Mutation_p.R61C|SNRPN_ENST00000554227.2_Missense_Mutation_p.R65C|SNRPN_ENST00000400097.1_Missense_Mutation_p.R61C|SNRPN_ENST00000577565.1_Missense_Mutation_p.R61C|SNURF_ENST00000551312.2_Intron			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	61					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	p.R61C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCAACCAGAGCGTGAAGAAAA	0.428									Prader-Willi syndrome				False	0	False	15:25221477	0	T	25221477	C	T	25221477	3	4	88	1	0	0	0	0	1	0	0	0	14950	768	27	1	191	1	SNRPN	15	25221477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1289581	25221477	77309915	14557	22269											
SNRPN	6638	broad.mit.edu	37	chr15	25222994	25222994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgactgccagtattgctggaGccccaacacagtacccacca	8	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25222994G>T	ENST00000444203.2	+	6	1541	c.502G>T	c.(502-504)Gcc>Tcc	p.A168S	SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Missense_Mutation_p.A164S|SNRPN_ENST00000390687.4_Missense_Mutation_p.A164S|SNRPN_ENST00000400100.1_Missense_Mutation_p.A164S|SNRPN_ENST00000400098.1_Missense_Mutation_p.A164S|SNRPN_ENST00000554227.2_Missense_Mutation_p.A168S|SNRPN_ENST00000400097.1_Missense_Mutation_p.A164S|SNRPN_ENST00000577565.1_Missense_Mutation_p.A164S|SNURF_ENST00000551312.2_Intron			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	164					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TATTGCTGGAGCCCCAACACA	0.597									Prader-Willi syndrome				False	0	True	15:25222994	0	T	25222994	G	T	25222994	3	4	88	1	0	0	0	0	1	0	0	0	14950	971	34	3	508	3	SNRPN	15	25222994	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1517	25222994	77308398	14558	22270											
UBE3A	7337	broad.mit.edu	37	chr15	25601996	25601996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accctcagtttcaaaagaagAtggattaaaccaaaacaatt	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25601996A>G	ENST00000232165.3	-	8	2457	c.1801T>C	c.(1801-1803)Tct>Cct	p.S601P	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.S581P|UBE3A_ENST00000397954.2_Missense_Mutation_p.S604P|UBE3A_ENST00000438097.1_Missense_Mutation_p.S581P|UBE3A_ENST00000428984.2_Missense_Mutation_p.S581P	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	604					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TCAAAAGAAGATGGATTAAAC	0.313													False	0	False	15:25601996	0	G	25601996	A	G	25601996	3	3	88	1	0	0	0	0	1	0	0	0	16963	333	12	4	841	4	UBE3A	15	25601996	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	379002	25601996	76929396	14559	22271											
UBE3A	7337	broad.mit.edu	37	chr15	25605662	25605662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgcaggattttccatagCgatcatctctagctagtgat	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25605662C>T	ENST00000232165.3	-	7	2277	c.1621G>A	c.(1621-1623)Gct>Act	p.A541T	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.A521T|UBE3A_ENST00000397954.2_Missense_Mutation_p.A544T|UBE3A_ENST00000438097.1_Missense_Mutation_p.A521T|UBE3A_ENST00000428984.2_Missense_Mutation_p.A521T	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	544					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTTTCCATAGCGATCATCTCT	0.353													False	0	False	15:25605662	0	T	25605662	C	T	25605662	3	4	88	1	0	0	0	0	1	0	0	0	16963	768	27	1	1025	1	UBE3A	15	25605662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3666	25605662	76925730	14560	22272											
UBE3A	7337	broad.mit.edu	37	chr15	25616462	25616462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatttctattctccattaCgataatgaacaaattcagat	5	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25616462C>T	ENST00000232165.3	-	6	1515	c.859G>A	c.(859-861)Gta>Ata	p.V287I	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.V267I|UBE3A_ENST00000397954.2_Missense_Mutation_p.V290I|UBE3A_ENST00000438097.1_Missense_Mutation_p.V267I|UBE3A_ENST00000428984.2_Missense_Mutation_p.V267I	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	290					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTCTCCATTACGATAATGAAC	0.393													False	0	False	15:25616462	0	T	25616462	C	T	25616462	3	4	88	1	0	0	0	0	1	0	0	0	16963	536	19	1	1791	1	UBE3A	15	25616462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10800	25616462	76914930	14561	22273											
ATP10A	57194	broad.mit.edu	37	chr15	25959091	25959091	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggctctccgcctcgtaccGcagctcgcgctctgactcct	10	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25959091G>A	ENST00000356865.6	-	10	2185	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	692					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTCGTACCGCAGCTCGCGC	0.667													False	0	False	15:25959091	0	A	25959091	G	A	25959091	3	1	88	1	0	0	0	0	1	0	0	0	1120	1086	38	1	2473	1	ATP10A	15	25959091	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342629	25959091	76572301	14562	22274											
ATP10A	57194	broad.mit.edu	37	chr15	25963453	25963453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccggacactctggtggCtgccgatgctgccgcgctgg	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25963453C>T	ENST00000356865.6	-	8	1568	c.1457G>A	c.(1456-1458)aGc>aAc	p.S486N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	486					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACTCTGGTGGCTGCCGATGCT	0.701													False	0	False	15:25963453	0	T	25963453	C	T	25963453	3	4	88	1	0	0	0	0	1	0	0	0	1120	797	28	2	3098	2	ATP10A	15	25963453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4362	25963453	76567939	14563	22275											
ATP10A	57194	broad.mit.edu	37	chr15	26026197	26026197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgcggaccacctgccgcCgcttcaggttggtctctcca	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26026197C>T	ENST00000356865.6	-	2	734	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	208					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R208Q(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CACCTGCCGCCGCTTCAGGTT	0.602													False	0	False	15:26026197	0	T	26026197	C	T	26026197	3	4	88	1	0	0	0	0	1	0	0	0	1120	652	23	1	3956	1	ATP10A	15	26026197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62744	26026197	76505195	14564	22276											
GABRB3	2562	broad.mit.edu	37	chr15	26806166	26806166	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttgagggcctcttccaaaGaaaatgtagttgacaaaggc	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26806166G>T	ENST00000541819.2	-	9	1263	c.1161C>A	c.(1159-1161)ttC>ttA	p.F387L	GABRB3_ENST00000400188.3_Missense_Mutation_p.F260L|GABRB3_ENST00000311550.5_Missense_Mutation_p.F331L|GABRB3_ENST00000299267.4_Missense_Mutation_p.F331L|GABRB3_ENST00000545868.1_Missense_Mutation_p.F246L			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	331					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTCTTCCAAAGAAAATGTAGT	0.483													False	0	True	15:26806166	0	T	26806166	G	T	26806166	3	4	88	1	0	0	0	0	1	0	0	0	6210	933	33	3	436	3	GABRB3	15	26806166	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	779969	26806166	75725226	14565	22277											
GABRB3	2562	broad.mit.edu	37	chr15	26866564	26866564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcatttaagaaatatgtgtCgggcacccatagctggtcag	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26866564C>T	ENST00000541819.2	-	5	628	c.526G>A	c.(526-528)Gac>Aac	p.D176N	GABRB3_ENST00000400188.3_Missense_Mutation_p.D49N|GABRB3_ENST00000311550.5_Missense_Mutation_p.D120N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D120N|GABRB3_ENST00000545868.1_Missense_Mutation_p.D35N			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	120					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.D120Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAATATGTGTCGGGCACCCAT	0.463													False	0	True	15:26866564	0	T	26866564	C	T	26866564	3	4	88	1	0	0	0	0	1	0	0	0	6210	884	31	1	1087	1	GABRB3	15	26866564	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60398	26866564	75664828	14566	22278											
GABRB3	2562	broad.mit.edu	37	chr15	27017577	27017577	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcggaaaccatgtcgatgCtggcgatgtcgatgttcatc	11	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27017577C>A	ENST00000541819.2	-	4	482	c.380G>T	c.(379-381)aGc>aTc	p.S127I	GABRB3_ENST00000557641.1_5'UTR|GABRB3_ENST00000311550.5_Missense_Mutation_p.S71I|GABRB3_ENST00000299267.4_Missense_Mutation_p.S71I			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	71					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CATGTCGATGCTGGCGATGTC	0.692													False	0	False	15:27017577	0	A	27017577	C	A	27017577	3	1	88	1	0	0	0	0	1	0	0	0	6210	797	28	3	1237	3	GABRB3	15	27017577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	151013	27017577	75513815	14567	22279											
GABRA5	2558	broad.mit.edu	37	chr15	27114471	27114471	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatttccatgaacttatccAgtcactttgggtaagttacc	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27114471A>G	ENST00000335625.5	+	3	964	c.76A>G	c.(76-78)Agt>Ggt	p.S26G	GABRA5_ENST00000557449.1_3'UTR|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.S26G|GABRA5_ENST00000355395.5_Missense_Mutation_p.S26G	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	26					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAACTTATCCAGTCACTTTGG	0.393													False	0	False	15:27114471	0	G	27114471	A	G	27114471	3	3	88	1	0	0	0	0	1	0	0	0	6206	188	7	4	78	4	GABRA5	15	27114471	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	96894	27114471	75416921	14568	22280											
GABRA5	2558	broad.mit.edu	37	chr15	27128536	27128536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaagatgaaaggcttcGgtttaaggggcccatgcagc	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27128536G>A	ENST00000335625.5	+	6	1217	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	GABRA5_ENST00000557449.1_Intron|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R110Q|GABRA5_ENST00000355395.5_Missense_Mutation_p.R110Q	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	110					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAAGGCTTCGGTTTAAGGGG	0.562													False	0	False	15:27128536	0	A	27128536	G	A	27128536	3	1	88	1	0	0	0	0	1	0	0	0	6206	1116	39	1	343	1	GABRA5	15	27128536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14065	27128536	75402856	14569	22281											
GABRA5	2558	broad.mit.edu	37	chr15	27185073	27185073	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatttgcttatttgcaggCgaatacacaatcatgacagc	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27185073C>T	ENST00000335625.5	+	9	1614	c.726C>T	c.(724-726)ggC>ggT	p.G242G	GABRA5_ENST00000400081.3_Splice_Site_p.G242G|GABRA5_ENST00000355395.5_Splice_Site_p.G242G	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	242					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATTTGCAGGCGAATACACAA	0.493													False	0	False	15:27185073	0	T	27185073	C	T	27185073	5	4	88	1	0	0	0	0	0	0	1	0	6206	782	27	1	752	1	GABRA5	15	27185073	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56537	27185073	75346319	14570	22282											
GABRA5	2558	broad.mit.edu	37	chr15	27185111	27185111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcacttccacctgaaaaGgaagattggctactttgtca	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27185111G>T	ENST00000335625.5	+	9	1652	c.764G>T	c.(763-765)aGg>aTg	p.R255M	GABRA5_ENST00000400081.3_Missense_Mutation_p.R255M|GABRA5_ENST00000355395.5_Missense_Mutation_p.R255M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	255					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CACCTGAAAAGGAAGATTGGC	0.488													False	0	True	15:27185111	0	T	27185111	G	T	27185111	3	4	88	1	0	0	0	0	1	0	0	0	6206	1000	35	3	790	3	GABRA5	15	27185111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	27185111	75346281	14571	22283											
GABRA5	2558	broad.mit.edu	37	chr15	27188450	27188450	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgccaccgccatggactgGttcatagccgtgtgctatgc	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27188450G>A	ENST00000335625.5	+	10	1854	c.966G>A	c.(964-966)tgG>tgA	p.W322*	GABRA5_ENST00000400081.3_Nonsense_Mutation_p.W322*|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.W322*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	322					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCATGGACTGGTTCATAGCCG	0.582													False	0	False	15:27188450	0	A	27188450	G	A	27188450	4	1	88	1	0	0	0	0	0	1	0	0	6206	1270	44	2	996	2	GABRA5	15	27188450	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3339	27188450	75342942	14572	22284											
GABRG3	2567	broad.mit.edu	37	chr15	27572106	27572106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaattctaaaaccgcagagGctcactggatcaccacaccc	7	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27572106G>A	ENST00000333743.6	+	4	675	c.421G>A	c.(421-423)Gct>Act	p.A141T	GABRG3_ENST00000555083.1_Missense_Mutation_p.A141T	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	141					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AACCGCAGAGGCTCACTGGAT	0.453													False	0	False	15:27572106	0	A	27572106	G	A	27572106	3	1	88	1	0	0	0	0	1	0	0	0	6215	1203	42	2	435	2	GABRG3	15	27572106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383656	27572106	74959286	14573	22285											
HERC2	8924	broad.mit.edu	37	chr15	28357165	28357165	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagtggtctggagggTtgtatttatccaacacctgt	14	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28357165T>C	ENST00000261609.7	-	93	14357	c.14249A>G	c.(14248-14250)aAc>aGc	p.N4750S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4750	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCTGGAGGGTTGTATTTATC	0.473													False	0	True	15:28357165	0	C	28357165	T	C	28357165	3	2	88	1	0	0	0	0	1	0	0	0	7105	1725	60	4	259	4	HERC2	15	28357165	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	785059	28357165	74174227	14574	22286											
HERC2	8924	broad.mit.edu	37	chr15	28358303	28358303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcgaaggaaaagagagcGctctgtgttggagaaggact	16	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28358303G>A	ENST00000261609.7	-	92	14254	c.14146C>T	c.(14146-14148)Cgc>Tgc	p.R4716C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4716	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAAAGAGAGCGCTCTGTGTTG	0.607													False	0	False	15:28358303	0	A	28358303	G	A	28358303	3	1	88	1	0	0	0	0	1	0	0	0	7105	1087	38	1	366	1	HERC2	15	28358303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1138	28358303	74173089	14575	22287											
HERC2	8924	broad.mit.edu	37	chr15	28358723	28358723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggtcggcataccatcGtctccagttcgtagccggtg	14	12	1	0	rs144912188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28358723G>A	ENST00000261609.7	-	91	14123	c.14015C>T	c.(14014-14016)aCg>aTg	p.T4672M		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4672	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCATACCATCGTCTCCAGTTC	0.582													False	0	False	15:28358723	0	A	28358723	G	A	28358723	3	1	88	1	0	0	0	0	1	0	0	0	7105	1145	40	1	501	1	HERC2	15	28358723	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	420	28358723	74172669	14576	22288											
HERC2	8924	broad.mit.edu	37	chr15	28360609	28360609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgatggtgaggctcatcccaGccagctgcttccagacaggc	12	14	1	2	rs28548731		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28360609G>T	ENST00000261609.7	-	89	13796	c.13688C>A	c.(13687-13689)gCt>gAt	p.A4563D		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4563	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTCATCCCAGCCAGCTGCTT	0.612													False	0	True	15:28360609	0	T	28360609	G	T	28360609	3	4	88	1	0	0	0	0	1	0	0	0	7105	971	34	3	836	3	HERC2	15	28360609	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1886	28360609	74170783	14577	22289											
HERC2	8924	broad.mit.edu	37	chr15	28377840	28377840	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcactgtcgctgtgccccaGccggccgtagcggcctttgc	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28377840G>T	ENST00000261609.7	-	80	12475	c.12367C>A	c.(12367-12369)Ctg>Atg	p.L4123M		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4123					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGTGCCCCAGCCGGCCGTAG	0.647													False	0	True	15:28377840	0	T	28377840	G	T	28377840	3	4	88	1	0	0	0	0	1	0	0	0	7105	962	34	3	2193	3	HERC2	15	28377840	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17231	28377840	74153552	14578	22290											
HERC2	8924	broad.mit.edu	37	chr15	28413705	28413705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaccggggcgatcatggCggccggcatcagggccccga	15	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28413705C>T	ENST00000261609.7	-	67	10369	c.10261G>A	c.(10261-10263)Gcc>Acc	p.A3421T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3421					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCGATCATGGCGGCCGGCATC	0.632													False	0	True	15:28413705	0	T	28413705	C	T	28413705	3	4	88	1	0	0	0	0	1	0	0	0	7105	768	27	1	4351	1	HERC2	15	28413705	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35865	28413705	74117687	14579	22291											
HERC2	8924	broad.mit.edu	37	chr15	28446601	28446601	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttaagacaattactcaCctgaatattctctctcacat	3	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28446601C>T	ENST00000261609.7	-	48	7825		c.e48+1			NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAATTACTCACCTGAATATTC	0.433													False	0	False	15:28446601	0	T	28446601	C	T	28446601	5	4	88	1	0	0	0	0	0	0	1	0	7105	521	18	2	6971	2	HERC2	15	28446601	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32896	28446601	74084791	14580	22292											
HERC2	8924	broad.mit.edu	37	chr15	28463640	28463640	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcattccatacatgtcTtgtccgtcgttccgctttcc	5	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28463640T>G	ENST00000261609.7	-	38	6131	c.6023A>C	c.(6022-6024)aAg>aCg	p.K2008T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2008					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATACATGTCTTGTCCGTCGT	0.557													False	0	False	15:28463640	0	G	28463640	T	G	28463640	3	3	88	1	0	0	0	0	1	0	0	0	7105	1609	56	4	8705	4	HERC2	15	28463640	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17039	28463640	74067752	14581	22293											
HERC2	8924	broad.mit.edu	37	chr15	28473421	28473421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccggaattgagcagaaggtCgaggttgtttgcgccgtgct	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28473421C>T	ENST00000261609.7	-	35	5515	c.5407G>A	c.(5407-5409)Gac>Aac	p.D1803N		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1803					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAGAAGGTCGAGGTTGTTT	0.612													False	0	False	15:28473421	0	T	28473421	C	T	28473421	3	4	88	1	0	0	0	0	1	0	0	0	7105	884	31	1	9333	1	HERC2	15	28473421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9781	28473421	74057971	14582	22294											
HERC2	8924	broad.mit.edu	37	chr15	28510844	28510844	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcctttaagcccggctAccagcatcggaatggcctcg	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28510844A>G	ENST00000261609.7	-	14	1898	c.1790T>C	c.(1789-1791)gTa>gCa	p.V597A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	597					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCCCGGCTACCAGCATCGG	0.572													False	0	False	15:28510844	0	G	28510844	A	G	28510844	3	3	88	1	0	0	0	0	1	0	0	0	7105	391	14	4	13034	4	HERC2	15	28510844	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37423	28510844	74020548	14583	22295											
HERC2	8924	broad.mit.edu	37	chr15	28510973	28510973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagacgtaccatggcccagCcggccgtagttcccgcggcc	13	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28510973C>T	ENST00000261609.7	-	13	1854	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	582					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGGCCCAGCCGGCCGTAGT	0.627													False	0	True	15:28510973	0	T	28510973	C	T	28510973	2	4	88	1	0	0	0	0	0	0	0	1	7105	726	26	2		2	HERC2	15	28510973	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	28510973	74020419	14584	22296											
HERC2	8924	broad.mit.edu	37	chr15	28514426	28514426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attataggcctgtgtgtacaCgcggccattgcgtgacagaa	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28514426C>T	ENST00000261609.7	-	11	1522	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	472					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTGTGTACACGCGGCCATTG	0.557													False	0	False	15:28514426	0	T	28514426	C	T	28514426	3	4	88	1	0	0	0	0	1	0	0	0	7105	536	19	1	13422	1	HERC2	15	28514426	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3453	28514426	74016966	14585	22297											
APBA2	321	broad.mit.edu	37	chr15	29385310	29385310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgaaccagaagacctcatcGacgggatcatctttgctgcc	10	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29385310G>A	ENST00000558402.1	+	8	1701	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	APBA2_ENST00000558259.1_Missense_Mutation_p.D368N|APBA2_ENST00000558330.1_Missense_Mutation_p.D368N|APBA2_ENST00000411764.1_Missense_Mutation_p.D368N|APBA2_ENST00000561069.1_Missense_Mutation_p.D368N			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	368	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGACCTCATCGACGGGATCAT	0.537													False	0	False	15:29385310	0	A	29385310	G	A	29385310	3	1	88	1	0	0	0	0	1	0	0	0	759	1058	37	1	1116	1	APBA2	15	29385310	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	870884	29385310	73146082	14586	22298											
APBA2	321	broad.mit.edu	37	chr15	29393844	29393844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtaccatctcctacatcGccgacattgggaacattgta	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29393844G>A	ENST00000558402.1	+	11	1980	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	APBA2_ENST00000558259.1_Missense_Mutation_p.A461T|APBA2_ENST00000558330.1_Missense_Mutation_p.A449T|APBA2_ENST00000411764.1_Missense_Mutation_p.A449T|APBA2_ENST00000561069.1_Missense_Mutation_p.A461T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	461	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCCTACATCGCCGACATTGG	0.587													False	0	False	15:29393844	0	A	29393844	G	A	29393844	3	1	88	1	0	0	0	0	1	0	0	0	759	1087	38	1	1407	1	APBA2	15	29393844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8534	29393844	73137548	14587	22299											
NDNL2	56160	broad.mit.edu	37	chr15	29561540	29561540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgtttgaagaggtcggGgaagatgtccttgtagtccc	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29561540G>A	ENST00000332303.4	-	1	493	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	124	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AAGAGGTCGGGGAAGATGTCC	0.532													False	0	True	15:29561540	0	A	29561540	G	A	29561540	3	1	88	1	0	0	0	0	1	0	0	0	10316	1232	43	2	548	2	NDNL2	15	29561540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167696	29561540	72969852	14588	22300											
TJP1	7082	broad.mit.edu	37	chr15	30003138	30003138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaggagggggagtggcCtggatgggttcatagcgttt	21	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30003138C>A	ENST00000346128.6	-	24	4743	c.4269G>T	c.(4267-4269)caG>caT	p.Q1423H	TJP1_ENST00000545208.2_Missense_Mutation_p.Q1343H|TJP1_ENST00000356107.6_Missense_Mutation_p.Q1423H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1347H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1423					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGGAGTGGCCTGGATGGGTT	0.527													False	0	False	15:30003138	0	A	30003138	C	A	30003138	3	1	88	1	0	0	0	0	1	0	0	0	16011	680	24	3	997	3	TJP1	15	30003138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441598	30003138	72528254	14589	22301											
TJP1	7082	broad.mit.edu	37	chr15	30010931	30010931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtggtctgctgtcgtaagAcagaggggctggctcttcaa	14	9	3	2	rs141258029	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30010931A>G	ENST00000346128.6	-	21	3889	c.3415T>C	c.(3415-3417)Tct>Cct	p.S1139P	TJP1_ENST00000545208.2_Missense_Mutation_p.S1059P|TJP1_ENST00000356107.6_Missense_Mutation_p.S1139P|TJP1_ENST00000400011.2_Missense_Mutation_p.S1063P	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1139					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTGTCGTAAGACAGAGGGGCT	0.537													False	0	False	15:30010931	0	G	30010931	A	G	30010931	3	3	88	1	0	0	0	0	1	0	0	0	16011	275	10	4	1863	4	TJP1	15	30010931	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7793	30010931	72520461	14590	22302											
TJP1	7082	broad.mit.edu	37	chr15	30011019	30011019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtcaaggtcttgagagtgCtgattatcaaaaggtggccg	14	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30011019C>A	ENST00000346128.6	-	21	3801	c.3327G>T	c.(3325-3327)caG>caT	p.Q1109H	TJP1_ENST00000545208.2_Missense_Mutation_p.Q1029H|TJP1_ENST00000356107.6_Missense_Mutation_p.Q1109H|TJP1_ENST00000400011.2_Missense_Mutation_p.Q1033H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1109					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTTGAGAGTGCTGATTATCAA	0.498													False	0	False	15:30011019	0	A	30011019	C	A	30011019	3	1	88	1	0	0	0	0	1	0	0	0	16011	796	28	3	1951	3	TJP1	15	30011019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	30011019	72520373	14591	22303											
TJP1	7082	broad.mit.edu	37	chr15	30012008	30012008	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatctacatgcgacgacaaTgatggttcttgatctcttag	10	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30012008T>C	ENST00000346128.6	-	20	3450	c.2976A>G	c.(2974-2976)tcA>tcG	p.S992S	TJP1_ENST00000545208.2_Intron|TJP1_ENST00000356107.6_Silent_p.S992S|TJP1_ENST00000400011.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	992					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCGACGACAATGATGGTTCTT	0.463													False	0	False	15:30012008	0	C	30012008	T	C	30012008	2	2	88	1	0	0	0	0	0	0	0	1	16011	1451	51	4		4	TJP1	15	30012008	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	989	30012008	72519384	14592	22304											
TJP1	7082	broad.mit.edu	37	chr15	30065561	30065561	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatccaaatccaggagcCtaaagtaaaaattacagtaa	5	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30065561C>A	ENST00000346128.6	-	3	559		c.e3-1		TJP1_ENST00000545208.2_Splice_Site|TJP1_ENST00000356107.6_Splice_Site|TJP1_ENST00000400011.2_Splice_Site|TJP1_ENST00000495972.2_Splice_Site	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1						cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATCCAGGAGCCTAAAGTAAAA	0.318													False	0	False	15:30065561	0	A	30065561	C	A	30065561	5	1	88	1	0	0	0	0	0	0	1	0	16011	695	24	3	5266	3	TJP1	15	30065561	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53553	30065561	72465831	14593	22305											
CHRFAM7A	89832	broad.mit.edu	37	chr15	30659671	30659671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggtggtactgcagcaCgatcaccgtcaccaccaccg	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30659671C>T	ENST00000397827.3	-	8	1171	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.V133M|CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.V224M	NM_148911.1	NP_683709.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	224						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TACTGCAGCACGATCACCGTC	0.637													False	0	False	15:30659671	0	T	30659671	C	T	30659671	3	4	88	1	0	0	0	0	1	0	0	0	3398	536	19	1	576	1	CHRFAM7A	15	30659671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	594110	30659671	71871721	14594	22306											
ARHGAP11B	89839	broad.mit.edu	37	chr15	30925773	30925773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatcaggatctgtgattcGcctaaaagcactaaaggtga	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30925773G>A	ENST00000428041.2	+	3	426	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	94	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCTGTGATTCGCCTAAAAGCA	0.323													False	0	False	15:30925773	0	A	30925773	G	A	30925773	3	1	88	1	0	0	0	0	1	0	0	0	866	1087	38	1	291	1	ARHGAP11B	15	30925773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266102	30925773	71605619	14595	22307											
ARHGAP11B	89839	broad.mit.edu	37	chr15	30927350	30927350	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccaaatcttcttcagacaAgtgaaggacatgaaaagatg	8	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30927350A>C	ENST00000428041.2	+	5	764	c.619A>C	c.(619-621)Agt>Cgt	p.S207R		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	207	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCTTCAGACAAGTGAAGGACA	0.378													False	0	False	15:30927350	0	C	30927350	A	C	30927350	3	2	88	1	0	0	0	0	1	0	0	0	866	72	3	4	637	4	ARHGAP11B	15	30927350	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1577	30927350	71604042	14596	22308											
TRPM1	4308	broad.mit.edu	37	chr15	31318431	31318431	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgcacgcactgctcctcGaactcatgcagcctctttag	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31318431G>A	ENST00000542188.1	-	26	3904	c.3591C>T	c.(3589-3591)ttC>ttT	p.F1197F	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.F1180F|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Silent_p.F1158F	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1158					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACTGCTCCTCGAACTCATGCA	0.557													False	0	False	15:31318431	0	A	31318431	G	A	31318431	2	1	88	1	0	0	0	0	0	0	0	1	16668	1049	37	1		1	TRPM1	15	31318431	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	391081	31318431	71212961	14597	22309											
TRPM1	4308	broad.mit.edu	37	chr15	31318444	31318444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcgaactcatgcagcCtctttagctcctcgtcgcta	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31318444C>A	ENST00000542188.1	-	26	3891	c.3578G>T	c.(3577-3579)aGg>aTg	p.R1193M	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1176M|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1154M	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1154					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCATGCAGCCTCTTTAGCTC	0.542													False	0	False	15:31318444	0	A	31318444	C	A	31318444	3	1	88	1	0	0	0	0	1	0	0	0	16668	681	24	3	1358	3	TRPM1	15	31318444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	31318444	71212948	14598	22310											
TRPM1	4308	broad.mit.edu	37	chr15	31323236	31323236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcatccagtagggcatgTagaagatgtttcgggccagt	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31323236T>C	ENST00000542188.1	-	22	3441	c.3128A>G	c.(3127-3129)tAc>tGc	p.Y1043C	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.Y1026C|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1004C	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1004					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTAGGGCATGTAGAAGATGTT	0.488													False	0	False	15:31323236	0	C	31323236	T	C	31323236	3	2	88	1	0	0	0	0	1	0	0	0	16668	1638	57	4	1824	4	TRPM1	15	31323236	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4792	31323236	71208156	14599	22311											
TRPM1	4308	broad.mit.edu	37	chr15	31329913	31329913	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgttcaggaggaggcctcaCtgtgtaaaaccagaacttga	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31329913C>A	ENST00000542188.1	-	19	2936		c.e19+1		RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Splice_Site|TRPM1_ENST00000397795.2_Splice_Site	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.?(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGGCCTCACTGTGTAAAAC	0.373													False	0	False	15:31329913	0	A	31329913	C	A	31329913	5	1	88	1	0	0	0	0	0	0	1	0	16668	579	20	3	2341	3	TRPM1	15	31329913	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6677	31329913	71201479	14600	22312											
TRPM1	4308	broad.mit.edu	37	chr15	31334348	31334348	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcagctcgtggaagggataCtggaaccgactcacggcagg	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31334348C>A	ENST00000542188.1	-	16	2257	c.1944G>T	c.(1942-1944)caG>caT	p.Q648H	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.Q631H|TRPM1_ENST00000397795.2_Missense_Mutation_p.Q609H	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	609					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.Q609Q(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAAGGGATACTGGAACCGAC	0.527													False	0	False	15:31334348	0	A	31334348	C	A	31334348	3	1	88	1	0	0	0	0	1	0	0	0	16668	564	20	3	3032	3	TRPM1	15	31334348	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4435	31334348	71197044	14601	22313											
TRPM1	4308	broad.mit.edu	37	chr15	31362299	31362299	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ataggaatctgttgggtagcTctgggtgtgcttggcaacag	15	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31362299T>G	ENST00000542188.1	-	3	578	c.265A>C	c.(265-267)Agc>Cgc	p.S89R	TRPM1_ENST00000256552.6_Missense_Mutation_p.S72R|TRPM1_ENST00000559179.1_Missense_Mutation_p.S50R|TRPM1_ENST00000397795.2_Missense_Mutation_p.S50R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	50					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTTGGGTAGCTCTGGGTGTGC	0.493													False	0	False	15:31362299	0	G	31362299	T	G	31362299	3	3	88	1	0	0	0	0	1	0	0	0	16668	1551	54	4	4763	4	TRPM1	15	31362299	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27951	31362299	71169093	14602	22314											
OTUD7A	161725	broad.mit.edu	37	chr15	31793994	31793994	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagtggcatctgttgggaGggacctccaagggcaggtag	17	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31793994G>T	ENST00000382902.1	-	8	1162	c.1070C>A	c.(1069-1071)cCt>cAt	p.P357H	OTUD7A_ENST00000307050.4_Missense_Mutation_p.P350H			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	350	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCTGTTGGGAGGGACCTCCAA	0.577													False	0	True	15:31793994	0	T	31793994	G	T	31793994	3	4	88	1	0	0	0	0	1	0	0	0	11386	1000	35	3	1747	3	OTUD7A	15	31793994	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	431695	31793994	70737398	14603	22315											
OTUD7A	161725	broad.mit.edu	37	chr15	31818563	31818563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacttaccccccgcccgtGccgccattcttgctgaagtg	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31818563G>A	ENST00000382902.1	-	6	974	c.882C>T	c.(880-882)ggC>ggT	p.G294G	OTUD7A_ENST00000307050.4_Silent_p.G287G			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	287	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCCCGCCCGTGCCGCCATTCT	0.677													False	0	False	15:31818563	0	A	31818563	G	A	31818563	2	1	88	1	0	0	0	0	0	0	0	1	11386	1306	46	2		2	OTUD7A	15	31818563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24569	31818563	70712829	14604	22316											
OTUD7A	161725	broad.mit.edu	37	chr15	31822993	31822993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacagctcgtgcacacagtgGaccaccagttcaggcgacct	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31822993G>T	ENST00000382902.1	-	4	661	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	OTUD7A_ENST00000307050.4_Missense_Mutation_p.S190Y			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	190	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCACACAGTGGACCACCAGTT	0.527													False	0	False	15:31822993	0	T	31822993	G	T	31822993	3	4	88	1	0	0	0	0	1	0	0	0	11386	1174	41	3	2243	3	OTUD7A	15	31822993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4430	31822993	70708399	14605	22317											
CHRNA7	1139	broad.mit.edu	37	chr15	32460281	32460281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagcgccgtggcgccgccGcccgccagcaacgggaacct	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:32460281G>A	ENST00000306901.3	+	10	1228	c.1131G>A	c.(1129-1131)ccG>ccA	p.P377P	CHRNA7_ENST00000454250.3_Silent_p.P406P|CHRNA7_ENST00000455693.2_Silent_p.P196P	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	377					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	TGGCGCCGCCGCCCGCCAGCA	0.706													False	0	True	15:32460281	0	A	32460281	G	A	32460281	2	1	88	1	0	0	0	0	0	0	0	1	3411	1074	38	1		1	CHRNA7	15	32460281	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	637288	32460281	70071111	14606	22318											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32929721	32929721	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagtcaaatattggtgcaaTttcaaagtcaagcatggagt	10	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:32929721T>G	ENST00000361627.3	+	12	3469	c.2747T>G	c.(2746-2748)aTt>aGt	p.I916S	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.I727S|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.I727S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	916					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ATTGGTGCAATTTCAAAGTCA	0.368													False	0	True	15:32929721	0	G	32929721	T	G	32929721	3	3	88	1	0	0	0	0	1	0	0	0	865	1493	52	4	2816	4	ARHGAP11A	15	32929721	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	469440	32929721	69601671	14607	22319											
FMN1	342184	broad.mit.edu	37	chr15	33149272	33149272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gctggagatactcctttgggGactccttgcacaccaccacc	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33149272G>T	ENST00000334528.9	-	13	3202	c.3203C>A	c.(3202-3204)tCc>tAc	p.S1068Y	FMN1_ENST00000559047.1_Missense_Mutation_p.S1291Y|FMN1_ENST00000561249.1_Missense_Mutation_p.S1193Y	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1291	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCCTTTGGGGACTCCTTGCA	0.468													False	0	True	15:33149272	0	T	33149272	G	T	33149272	3	4	88	1	0	0	0	0	1	0	0	0	5989	1174	41	3	407	3	FMN1	15	33149272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219551	33149272	69382120	14608	22320											
FMN1	342184	broad.mit.edu	37	chr15	33260974	33260974	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcatgggacaactgggctcGatggctggttttcgaggaca	14	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33260974G>A	ENST00000334528.9	-	4	2258	c.2259C>T	c.(2257-2259)atC>atT	p.I753I	FMN1_ENST00000559047.1_Silent_p.I976I|FMN1_ENST00000561249.1_Silent_p.I878I	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	976	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AACTGGGCTCGATGGCTGGTT	0.507													False	0	False	15:33260974	0	A	33260974	G	A	33260974	2	1	88	1	0	0	0	0	0	0	0	1	5989	1048	37	1		1	FMN1	15	33260974	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111702	33260974	69270418	14609	22321											
FMN1	342184	broad.mit.edu	37	chr15	33261570	33261570	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcttcacaaccccctcGccatctgtgttctagctcgt	5	18	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33261570G>A	ENST00000334528.9	-	4	1662	c.1663C>T	c.(1663-1665)Cga>Tga	p.R555*	FMN1_ENST00000559047.1_Nonsense_Mutation_p.R778*|FMN1_ENST00000561249.1_Nonsense_Mutation_p.R680*	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	778	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAACCCCCTCGCCATCTGTGT	0.483													False	0	False	15:33261570	0	A	33261570	G	A	33261570	4	1	88	1	0	0	0	0	0	1	0	0	5989	1095	38	1	1983	1	FMN1	15	33261570	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	596	33261570	69269822	14610	22322											
FMN1	342184	broad.mit.edu	37	chr15	33261663	33261663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccggatatgaaatgcccGaagttcaaactgtgcctata	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33261663G>A	ENST00000334528.9	-	4	1569	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	FMN1_ENST00000559047.1_Missense_Mutation_p.R747W|FMN1_ENST00000561249.1_Missense_Mutation_p.R649W	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	747	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGAAATGCCCGAAGTTCAAAC	0.398													False	0	True	15:33261663	0	A	33261663	G	A	33261663	3	1	88	1	0	0	0	0	1	0	0	0	5989	1057	37	1	2076	1	FMN1	15	33261663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93	33261663	69269729	14611	22323											
RYR3	6263	broad.mit.edu	37	chr15	33825537	33825537	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacatgcttgactacatcaaGatcccagacagacaaacttg	6	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33825537G>A	ENST00000389232.4	+	5	450	c.380G>A	c.(379-381)aGa>aAa	p.R127K	RYR3_ENST00000415757.3_Missense_Mutation_p.R127K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	127	MIR 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACTACATCAAGATCCCAGACA	0.463													False	0	False	15:33825537	0	A	33825537	G	A	33825537	3	1	88	1	0	0	0	0	1	0	0	0	13849	942	33	2	398	2	RYR3	15	33825537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	563874	33825537	68705855	14612	22324											
RYR3	6263	broad.mit.edu	37	chr15	33855181	33855181	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaaagcacaagacgccaaAacttcccgcctgggacctct	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33855181A>G	ENST00000389232.4	+	11	1186	c.1116A>G	c.(1114-1116)aaA>aaG	p.K372K	RYR3_ENST00000415757.3_Silent_p.K372K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	372	MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGACGCCAAAACTTCCCGCC	0.448													False	0	True	15:33855181	0	G	33855181	A	G	33855181	2	3	88	1	0	0	0	0	0	0	0	1	13849	11	1	4		4	RYR3	15	33855181	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29644	33855181	68676211	14613	22325											
RYR3	6263	broad.mit.edu	37	chr15	33872190	33872190	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttagcggaaacaatcgcAcagctgcccccatcaccctg	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33872190A>G	ENST00000389232.4	+	13	1352	c.1282A>G	c.(1282-1284)Aca>Gca	p.T428A	RYR3_ENST00000415757.3_Missense_Mutation_p.T428A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	428					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAACAATCGCACAGCTGCCCC	0.557													False	0	False	15:33872190	0	G	33872190	A	G	33872190	3	3	88	1	0	0	0	0	1	0	0	0	13849	159	6	4	1332	4	RYR3	15	33872190	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17009	33872190	68659202	14614	22326											
RYR3	6263	broad.mit.edu	37	chr15	33873841	33873841	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaacctcctctacaaattgCtgggtaagtacacatacagt	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33873841C>A	ENST00000389232.4	+	14	1640	c.1570C>A	c.(1570-1572)Ctg>Atg	p.L524M	RYR3_ENST00000415757.3_Missense_Mutation_p.L524M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	524					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTACAAATTGCTGGGTAAGTA	0.458													False	0	False	15:33873841	0	A	33873841	C	A	33873841	3	1	88	1	0	0	0	0	1	0	0	0	13849	796	28	3	1624	3	RYR3	15	33873841	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1651	33873841	68657551	14615	22327											
RYR3	6263	broad.mit.edu	37	chr15	33895431	33895431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttcctaacagcagagcCcacacatctgcgggtgggct	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33895431C>T	ENST00000389232.4	+	18	2100	c.2030C>T	c.(2029-2031)cCc>cTc	p.P677L	RYR3_ENST00000415757.3_Missense_Mutation_p.P677L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	677	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACAGCAGAGCCCACACATCTG	0.582													False	0	True	15:33895431	0	T	33895431	C	T	33895431	3	4	88	1	0	0	0	0	1	0	0	0	13849	623	22	2	2100	2	RYR3	15	33895431	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21590	33895431	68635961	14616	22328											
RYR3	6263	broad.mit.edu	37	chr15	33926885	33926885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctgcgggaagctgtgcgCacttttgttggttacgggta	15	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33926885C>T	ENST00000389232.4	+	25	3196	c.3126C>T	c.(3124-3126)cgC>cgT	p.R1042R	RYR3_ENST00000415757.3_Silent_p.R1042R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1042	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGCTGTGCGCACTTTTGTTG	0.463													False	0	False	15:33926885	0	T	33926885	C	T	33926885	2	4	88	1	0	0	0	0	0	0	0	1	13849	697	25	2		2	RYR3	15	33926885	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31454	33926885	68604507	14617	22329											
RYR3	6263	broad.mit.edu	37	chr15	33926918	33926918	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacgggtataacattgagccAtcagaccaagaactaggtaa	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33926918A>G	ENST00000389232.4	+	25	3229	c.3159A>G	c.(3157-3159)ccA>ccG	p.P1053P	RYR3_ENST00000415757.3_Silent_p.P1053P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1053	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACATTGAGCCATCAGACCAAG	0.458													False	0	False	15:33926918	0	G	33926918	A	G	33926918	2	3	88	1	0	0	0	0	0	0	0	1	13849	204	8	4		4	RYR3	15	33926918	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33	33926918	68604474	14618	22330											
RYR3	6263	broad.mit.edu	37	chr15	33927881	33927881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtagagcgatcttatgCagtgagatctggaaagtggt	15	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33927881C>T	ENST00000389232.4	+	26	3312	c.3242C>T	c.(3241-3243)gCa>gTa	p.A1081V	RYR3_ENST00000415757.3_Missense_Mutation_p.A1081V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1081	4 X approximate repeats.|B30.2/SPRY 2.			A -> P (in Ref. 1; BAA23795).	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGATCTTATGCAGTGAGATCT	0.527													False	0	False	15:33927881	0	T	33927881	C	T	33927881	3	4	88	1	0	0	0	0	1	0	0	0	13849	710	25	2	3344	2	RYR3	15	33927881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	963	33927881	68603511	14619	22331											
RYR3	6263	broad.mit.edu	37	chr15	33936603	33936603	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagttttataccatgtgCggtctccaagagggctttga	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33936603C>A	ENST00000389232.4	+	28	3718	c.3648C>A	c.(3646-3648)tgC>tgA	p.C1216*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.C1216*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1216	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.C1216C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATACCATGTGCGGTCTCCAAG	0.522													False	0	False	15:33936603	0	A	33936603	C	A	33936603	4	1	88	1	0	0	0	0	0	1	0	0	13849	776	27	3	3758	3	RYR3	15	33936603	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8722	33936603	68594789	14620	22332											
RYR3	6263	broad.mit.edu	37	chr15	33954523	33954523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccattgacaacaagtacCtccccggcctccttcgatct	6	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33954523C>T	ENST00000389232.4	+	35	4862	c.4792C>T	c.(4792-4794)Ctc>Ttc	p.L1598F	RYR3_ENST00000415757.3_Missense_Mutation_p.L1598F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1598	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAACAAGTACCTCCCCGGCCT	0.582													False	0	False	15:33954523	0	T	33954523	C	T	33954523	3	4	88	1	0	0	0	0	1	0	0	0	13849	681	24	2	4930	2	RYR3	15	33954523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17920	33954523	68576869	14621	22333											
RYR3	6263	broad.mit.edu	37	chr15	33954869	33954869	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggggcccacatccgagaccCtgtaggggggtctgtggagt	17	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33954869C>A	ENST00000389232.4	+	35	5208	c.5138C>A	c.(5137-5139)cCt>cAt	p.P1713H	RYR3_ENST00000415757.3_Missense_Mutation_p.P1713H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1713	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCCGAGACCCTGTAGGGGGG	0.562													False	0	True	15:33954869	0	A	33954869	C	A	33954869	3	1	88	1	0	0	0	0	1	0	0	0	13849	681	24	3	5276	3	RYR3	15	33954869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	346	33954869	68576523	14622	22334											
RYR3	6263	broad.mit.edu	37	chr15	33955915	33955915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccggaagaccaaggagTtccgctcacccccacaggag	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33955915T>C	ENST00000389232.4	+	36	5666	c.5596T>C	c.(5596-5598)Ttc>Ctc	p.F1866L	RYR3_ENST00000415757.3_Missense_Mutation_p.F1866L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1866	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACCAAGGAGTTCCGCTCACC	0.552													False	0	False	15:33955915	0	C	33955915	T	C	33955915	3	2	88	1	0	0	0	0	1	0	0	0	13849	1725	60	4	5738	4	RYR3	15	33955915	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1046	33955915	68575477	14623	22335											
RYR3	6263	broad.mit.edu	37	chr15	33988633	33988633	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgccctgggccaaatccgCtccctcctcagtgtcaggat	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33988633C>A	ENST00000389232.4	+	39	6145	c.6075C>A	c.(6073-6075)cgC>cgA	p.R2025R	RYR3_ENST00000415757.3_Silent_p.R2025R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2025	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCAAATCCGCTCCCTCCTCA	0.577													False	0	True	15:33988633	0	A	33988633	C	A	33988633	2	1	88	1	0	0	0	0	0	0	0	1	13849	784	28	3		3	RYR3	15	33988633	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32718	33988633	68542759	14624	22336											
RYR3	6263	broad.mit.edu	37	chr15	34030740	34030740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagctgtggaagaagagctGcacctaacggagaagctttt	12	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34030740G>A	ENST00000389232.4	+	50	7675	c.7605G>A	c.(7603-7605)ctG>ctA	p.L2535L	RYR3_ENST00000415757.3_Silent_p.L2535L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2535	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGAAGAGCTGCACCTAACGG	0.498											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	15:34030740	0	A	34030740	G	A	34030740	2	1	88	1	0	0	0	0	0	0	0	1	13849	1306	46	2		2	RYR3	15	34030740	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42107	34030740	68500652	14625	22337											
RYR3	6263	broad.mit.edu	37	chr15	34040438	34040438	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgggaaaatgagaagcttCgaagtgtgtcccaggccaac	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34040438C>T	ENST00000389232.4	+	54	8183	c.8113C>T	c.(8113-8115)Cga>Tga	p.R2705*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2705*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2705	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAGAAGCTTCGAAGTGTGTC	0.572													False	0	False	15:34040438	0	T	34040438	C	T	34040438	4	4	88	1	0	0	0	0	0	1	0	0	13849	876	31	1	8327	1	RYR3	15	34040438	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9698	34040438	68490954	14626	22338											
RYR3	6263	broad.mit.edu	37	chr15	34078040	34078040	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctactggtgggagcgggGtcctgagaacctgcccccca	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34078040G>T	ENST00000389232.4	+	66	9516	c.9446G>T	c.(9445-9447)gGt>gTt	p.G3149V	RYR3_ENST00000415757.3_Missense_Mutation_p.G3149V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3149					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGGAGCGGGGTCCTGAGAAC	0.572													False	0	True	15:34078040	0	T	34078040	G	T	34078040	3	4	88	1	0	0	0	0	1	0	0	0	13849	1261	44	3	9708	3	RYR3	15	34078040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37602	34078040	68453352	14627	22339											
RYR3	6263	broad.mit.edu	37	chr15	34137128	34137128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatggaattcctttaatgaCgaggaagaggaagaagcgat	12	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34137128C>T	ENST00000389232.4	+	93	13432	c.13362C>T	c.(13360-13362)gaC>gaT	p.D4454D	RYR3_ENST00000415757.3_Silent_p.D4449D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4454					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTTTAATGACGAGGAAGAGG	0.458													False	0	False	15:34137128	0	T	34137128	C	T	34137128	2	4	88	1	0	0	0	0	0	0	0	1	13849	535	19	1		1	RYR3	15	34137128	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59088	34137128	68394264	14628	22340											
RYR3	6263	broad.mit.edu	37	chr15	34137155	34137155	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggaagaagcgatggtattCtttgtccttcaggagagcac	13	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34137155C>A	ENST00000389232.4	+	93	13459	c.13389C>A	c.(13387-13389)ttC>ttA	p.F4463L	RYR3_ENST00000415757.3_Missense_Mutation_p.F4458L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4463					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGATGGTATTCTTTGTCCTTC	0.488													False	0	True	15:34137155	0	A	34137155	C	A	34137155	3	1	88	1	0	0	0	0	1	0	0	0	13849	912	32	3	13759	3	RYR3	15	34137155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27	34137155	68394237	14629	22341											
CHRM5	0	broad.mit.edu	37	chr15	34355142	34355142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcagcttagcctgtgCagatctcatcattggaatct	8	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355142C>T	ENST00000383263.5	+	3	894	c.224C>T	c.(223-225)gCa>gTa	p.A75V	CHRM5_ENST00000557872.1_Missense_Mutation_p.A75V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	75					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TTAGCCTGTGCAGATCTCATC	0.493													False	0	False	15:34355142	0	T	34355142	C	T	34355142	3	4	88	1	0	0	0	0	1	0	0	0	3403	710	25	2	226	2	CHRM5	15	34355142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217987	34355142	68176250	14630	22342											
CHRM5	0	broad.mit.edu	37	chr15	34355538	34355538	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgccttctacatccctgtttCtgtcatgaccatcctctact	4	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355538C>A	ENST00000383263.5	+	3	1290	c.620C>A	c.(619-621)tCt>tAt	p.S207Y	CHRM5_ENST00000557872.1_Missense_Mutation_p.S207Y	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	207					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	ATCCCTGTTTCTGTCATGACC	0.532													False	0	True	15:34355538	0	A	34355538	C	A	34355538	3	1	88	1	0	0	0	0	1	0	0	0	3403	913	32	3	622	3	CHRM5	15	34355538	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396	34355538	68175854	14631	22343											
CHRM5	0	broad.mit.edu	37	chr15	34355722	34355722	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcgggaaaggaaccaGgcctcctggtcatcctcccg	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355722G>T	ENST00000383263.5	+	3	1474	c.804G>T	c.(802-804)caG>caT	p.Q268H	CHRM5_ENST00000557872.1_Missense_Mutation_p.Q268H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	268					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	AAAGGAACCAGGCCTCCTGGT	0.612													False	0	False	15:34355722	0	T	34355722	G	T	34355722	3	4	88	1	0	0	0	0	1	0	0	0	3403	991	35	3	806	3	CHRM5	15	34355722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184	34355722	68175670	14632	22344											
PGBD4	161779	broad.mit.edu	37	chr15	34394945	34394945	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatcaagtgactcagggcgCtccatgaaatggtcagctcg	11	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34394945C>A	ENST00000397766.2	+	1	672	c.213C>A	c.(211-213)cgC>cgA	p.R71R		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	71										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ACTCAGGGCGCTCCATGAAAT	0.458													False	0	False	15:34394945	0	A	34394945	C	A	34394945	2	1	88	1	0	0	0	0	0	0	0	1	11852	784	28	3		3	PGBD4	15	34394945	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39223	34394945	68136447	14633	22345											
PGBD4	161779	broad.mit.edu	37	chr15	34395249	34395249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattgtgcagaaacctgagCtggagatgttttggtcaaca	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395249C>T	ENST00000397766.2	+	1	976	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	173										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GAAACCTGAGCTGGAGATGTT	0.398													False	0	False	15:34395249	0	T	34395249	C	T	34395249	2	4	88	1	0	0	0	0	0	0	0	1	11852	796	28	2		2	PGBD4	15	34395249	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304	34395249	68136143	14634	22346											
PGBD4	161779	broad.mit.edu	37	chr15	34395531	34395531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctatgaagcagtacctcCcgacaaaacgagtacgattt	8	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395531C>T	ENST00000397766.2	+	1	1258	c.799C>T	c.(799-801)Ccg>Tcg	p.P267S		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	267										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GCAGTACCTCCCGACAAAACG	0.418													False	0	True	15:34395531	0	T	34395531	C	T	34395531	3	4	88	1	0	0	0	0	1	0	0	0	11852	623	22	2	801	2	PGBD4	15	34395531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282	34395531	68135861	14635	22347											
PGBD4	161779	broad.mit.edu	37	chr15	34395759	34395759	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcccatgcttttcagagaaTtacatcaaaataggactgat	6	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395759T>C	ENST00000397766.2	+	1	1486	c.1027T>C	c.(1027-1029)Tta>Cta	p.L343L		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	343										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TTTCAGAGAATTACATCAAAA	0.403													False	0	False	15:34395759	0	C	34395759	T	C	34395759	2	2	88	1	0	0	0	0	0	0	0	1	11852	1490	52	4		4	PGBD4	15	34395759	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	228	34395759	68135633	14636	22348											
SLC12A6	9990	broad.mit.edu	37	chr15	34529730	34529730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggctactgtgaagatccGtatgctgcactttcgccaca	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34529730G>A	ENST00000354181.3	-	22	3316	c.2824C>T	c.(2824-2826)Cgg>Tgg	p.R942W	SLC12A6_ENST00000560164.1_Missense_Mutation_p.R754W|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R933W|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R927W|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R891W|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R883W|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R754W|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R942W|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R883W			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	942					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GTGAAGATCCGTATGCTGCAC	0.428													False	0	False	15:34529730	0	A	34529730	G	A	34529730	3	1	88	1	0	0	0	0	1	0	0	0	14468	1144	40	1	648	1	SLC12A6	15	34529730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133971	34529730	68001662	14637	22349											
SLC12A6	9990	broad.mit.edu	37	chr15	34531296	34531296	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaatgccctctctcagCttggcggccaccaccagctg	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34531296C>A	ENST00000354181.3	-	20	2994	c.2502G>T	c.(2500-2502)aaG>aaT	p.K834N	SLC12A6_ENST00000560164.1_Missense_Mutation_p.K646N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.K825N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.K819N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.K783N|SLC12A6_ENST00000458406.2_Missense_Mutation_p.K775N|SLC12A6_ENST00000451844.2_Missense_Mutation_p.K646N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.K834N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.K775N			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	834					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCTCTCTCAGCTTGGCGGCCA	0.557													False	0	False	15:34531296	0	A	34531296	C	A	34531296	3	1	88	1	0	0	0	0	1	0	0	0	14468	796	28	3	978	3	SLC12A6	15	34531296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1566	34531296	68000096	14638	22350											
SLC12A6	9990	broad.mit.edu	37	chr15	34532995	34532995	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgcttgacatgtaagTcttcatctagtttcagtaat	9	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34532995T>C	ENST00000354181.3	-	19	2795	c.2303A>G	c.(2302-2304)gAc>gGc	p.D768G	SLC12A6_ENST00000560164.1_Missense_Mutation_p.D580G|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D759G|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D753G|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D717G|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D709G|SLC12A6_ENST00000451844.2_Missense_Mutation_p.D580G|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D768G|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D709G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	768					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GACATGTAAGTCTTCATCTAG	0.488													False	0	False	15:34532995	0	C	34532995	T	C	34532995	3	2	88	1	0	0	0	0	1	0	0	0	14468	1667	58	4	1181	4	SLC12A6	15	34532995	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1699	34532995	67998397	14639	22351											
SLC12A6	9990	broad.mit.edu	37	chr15	34546711	34546711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagctgtgccgtagacaCgcatgttatttagcatggct	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34546711C>T	ENST00000354181.3	-	9	1448	c.956G>A	c.(955-957)cGt>cAt	p.R319H	SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	319					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCCGTAGACACGCATGTTATT	0.453													False	0	False	15:34546711	0	T	34546711	C	T	34546711	3	4	88	1	0	0	0	0	1	0	0	0	14468	536	19	1	2568	1	SLC12A6	15	34546711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13716	34546711	67984681	14640	22352											
LPCAT4	254531	broad.mit.edu	37	chr15	34654469	34654469	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagccggcccaccacaAtcacaggtaagctccctaca	6	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34654469A>C	ENST00000314891.6	-	10	1115	c.938T>G	c.(937-939)aTt>aGt	p.I313S		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	313					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GCCCACCACAATCACAGGTAA	0.537													False	0	False	15:34654469	0	C	34654469	A	C	34654469	3	2	88	1	0	0	0	0	1	0	0	0	8975	101	4	4	656	4	LPCAT4	15	34654469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	107758	34654469	67876923	14641	22353											
ACTC1	70	broad.mit.edu	37	chr15	35084354	35084354	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcattgccaatagtgatgaCttggccatcaggcagttcat	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35084354C>A	ENST00000290378.4	-	5	1400	c.745G>T	c.(745-747)Gtc>Ttc	p.V249F	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	249					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATAGTGATGACTTGGCCATCA	0.532													False	0	False	15:35084354	0	A	35084354	C	A	35084354	3	1	88	1	0	0	0	0	1	0	0	0	195	565	20	3	400	3	ACTC1	15	35084354	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	429885	35084354	67447038	14642	22354											
AQR	9716	broad.mit.edu	37	chr15	35196597	35196597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaagtttcatacacatcCtctgctccattttgtatagt	4	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35196597C>A	ENST00000156471.5	-	19	2166	c.1941G>T	c.(1939-1941)gaG>gaT	p.E647D		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	647						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CATACACATCCTCTGCTCCAT	0.328													False	0	False	15:35196597	0	A	35196597	C	A	35196597	3	1	88	1	0	0	0	0	1	0	0	0	837	680	24	3	2584	3	AQR	15	35196597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112243	35196597	67334795	14643	22355											
ZNF770	54989	broad.mit.edu	37	chr15	35273720	35273720	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtagtgtctttccagtTtagatggagatcggaaactt	11	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35273720T>C	ENST00000356321.4	-	3	2260	c.1916A>G	c.(1915-1917)aAa>aGa	p.K639R		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCTTTCCAGTTTAGATGGAGA	0.423													False	0	True	15:35273720	0	C	35273720	T	C	35273720	3	2	88	1	0	0	0	0	1	0	0	0	18225	1841	64	4	163	4	ZNF770	15	35273720	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77123	35273720	67257672	14644	22356											
ZNF770	54989	broad.mit.edu	37	chr15	35275070	35275070	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttagtacacaagacacatTtaaaaggcctctgaccagta	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35275070T>G	ENST00000356321.4	-	3	910	c.566A>C	c.(565-567)aAa>aCa	p.K189T		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CAAGACACATTTAAAAGGCCT	0.348													False	0	True	15:35275070	0	G	35275070	T	G	35275070	3	3	88	1	0	0	0	0	1	0	0	0	18225	1841	64	4	1513	4	ZNF770	15	35275070	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1350	35275070	67256322	14645	22357											
ZNF770	54989	broad.mit.edu	37	chr15	35275451	35275451	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaactagttgtctaaaggttTtatgacacacatcacattca	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35275451T>C	ENST00000356321.4	-	3	529	c.185A>G	c.(184-186)aAa>aGa	p.K62R		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCTAAAGGTTTTATGACACAC	0.348													False	0	True	15:35275451	0	C	35275451	T	C	35275451	3	2	88	1	0	0	0	0	1	0	0	0	18225	1841	64	4	1894	4	ZNF770	15	35275451	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	381	35275451	67255941	14646	22358											
C15orf41	84529	broad.mit.edu	37	chr15	36984338	36984338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgcagtgcattgtgaaCgactgctgttacggaccact	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:36984338C>T	ENST00000566621.1	+	7	688	c.438C>T	c.(436-438)aaC>aaT	p.N146N	C15orf41_ENST00000562877.1_Silent_p.N48N|C15orf41_ENST00000437989.2_Silent_p.N146N|C15orf41_ENST00000338183.4_Silent_p.N48N|C15orf41_ENST00000567389.1_Silent_p.N48N|C15orf41_ENST00000569302.1_Silent_p.N146N	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	146							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GCATTGTGAACGACTGCTGTT	0.428													False	0	False	15:36984338	0	T	36984338	C	T	36984338	2	4	88	1	0	0	0	0	0	0	0	1	1804	535	19	1		1	C15orf41	15	36984338	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1708887	36984338	65547054	14647	22359											
MEIS2	4212	broad.mit.edu	37	chr15	37385817	37385817	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtggaggagcctgaaagttCttcatgatctgacttggagc	13	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:37385817C>T	ENST00000338564.5	-	7	1050	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	MEIS2_ENST00000444725.1_Missense_Mutation_p.E202K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E189K|MEIS2_ENST00000559561.1_Missense_Mutation_p.E202K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E202K|MEIS2_ENST00000561208.1_Missense_Mutation_p.E202K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E114K|MEIS2_ENST00000219869.9_Missense_Mutation_p.E56K|MEIS2_ENST00000382766.2_Missense_Mutation_p.E202K|MEIS2_ENST00000340545.5_Missense_Mutation_p.E189K|MEIS2_ENST00000397624.3_Missense_Mutation_p.E114K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E189K	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	202	Ser/Thr-rich.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CCTGAAAGTTCTTCATGATCT	0.448													False	0	False	15:37385817	0	T	37385817	C	T	37385817	3	4	88	1	0	0	0	0	1	0	0	0	9535	922	32	2	920	2	MEIS2	15	37385817	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	401479	37385817	65145575	14648	22360											
MEIS2	4212	broad.mit.edu	37	chr15	37390266	37390266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgtgcgcgccgtagtgCtgtgtggcgtggagcggcgg	23	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:37390266C>T	ENST00000338564.5	-	3	593	c.147G>A	c.(145-147)caG>caA	p.Q49Q	MEIS2_ENST00000444725.1_Silent_p.Q49Q|MEIS2_ENST00000557796.2_Silent_p.Q36Q|MEIS2_ENST00000559561.1_Silent_p.Q49Q|MEIS2_ENST00000424352.2_Silent_p.Q49Q|MEIS2_ENST00000561208.1_Silent_p.Q49Q|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000382766.2_Silent_p.Q49Q|MEIS2_ENST00000340545.5_Silent_p.Q36Q|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000559085.1_Silent_p.Q36Q	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	49					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CGCCGTAGTGCTGTGTGGCGT	0.672													False	0	True	15:37390266	0	T	37390266	C	T	37390266	2	4	88	1	0	0	0	0	0	0	0	1	9535	796	28	2		2	MEIS2	15	37390266	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4449	37390266	65141126	14649	22361											
RASGRP1	10125	broad.mit.edu	37	chr15	38791016	38791016	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggagcagatctttggctcCcaatgagcaaaggttggaca	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:38791016C>A	ENST00000310803.5	-	15	2029	c.1852G>T	c.(1852-1854)Gga>Tga	p.G618*	RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.G583*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.G669*|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.G570*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	618					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTTTGGCTCCCAATGAGCAA	0.468													False	0	True	15:38791016	0	A	38791016	C	A	38791016	4	1	88	1	0	0	0	0	0	1	0	0	13153	632	22	3	553	3	RASGRP1	15	38791016	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1400750	38791016	63740376	14650	22362											
RASGRP1	10125	broad.mit.edu	37	chr15	38803860	38803860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgagcctcgagattgagCtgtgacacagcccacctatc	9	14	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:38803860C>T	ENST00000310803.5	-	8	1088	c.911G>A	c.(910-912)aGc>aAc	p.S304N	RASGRP1_ENST00000450598.2_Missense_Mutation_p.S304N|RASGRP1_ENST00000559830.1_Missense_Mutation_p.S304N|RASGRP1_ENST00000561180.1_Missense_Mutation_p.S355N|RASGRP1_ENST00000558164.1_Missense_Mutation_p.S304N|RASGRP1_ENST00000539159.1_Missense_Mutation_p.S256N	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	304	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CGAGATTGAGCTGTGACACAG	0.488													False	0	False	15:38803860	0	T	38803860	C	T	38803860	3	4	88	1	0	0	0	0	1	0	0	0	13153	797	28	2	1522	2	RASGRP1	15	38803860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12844	38803860	63727532	14651	22363											
C15orf54	400360	broad.mit.edu	37	chr15	39544706	39544706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattactctttgcacagaaaCctcagtctcctgggtggaag	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39544706C>T	ENST00000318578.3	+	2	738	c.370C>T	c.(370-372)Cct>Tct	p.P124S	C15orf54_ENST00000561223.1_Missense_Mutation_p.P124S|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	124										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TGCACAGAAACCTCAGTCTCC	0.458													False	0	True	15:39544706	0	T	39544706	C	T	39544706	3	4	88	1	0	0	0	0	1	0	0	0	1811	507	18	2	372	2	C15orf54	15	39544706	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	740846	39544706	62986686	14652	22364											
THBS1	7057	broad.mit.edu	37	chr15	39885650	39885650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccttcttcatcaacacCgaaagggacgatgactatgc	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39885650C>T	ENST00000260356.5	+	19	3213	c.3048C>T	c.(3046-3048)acC>acT	p.T1016T		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1016	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCATCAACACCGAAAGGGACG	0.493													False	0	False	15:39885650	0	T	39885650	C	T	39885650	2	4	88	1	0	0	0	0	0	0	0	1	15935	639	23	1		1	THBS1	15	39885650	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	340944	39885650	62645742	14653	22365											
THBS1	7057	broad.mit.edu	37	chr15	39886550	39886550	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atggctgactcaggacccatCtatgataaaacctatgctgg	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39886550C>T	ENST00000260356.5	+	21	3579	c.3414C>T	c.(3412-3414)atC>atT	p.I1138I		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1138	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAGGACCCATCTATGATAAAA	0.388													False	0	False	15:39886550	0	T	39886550	C	T	39886550	2	4	88	1	0	0	0	0	0	0	0	1	15935	903	32	2		2	THBS1	15	39886550	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	900	39886550	62644842	14654	22366											
FSIP1	161835	broad.mit.edu	37	chr15	40005738	40005738	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcctaagtatcttttcTcctggagttacttccatatt	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40005738T>G	ENST00000350221.3	-	10	1304	c.1095A>C	c.(1093-1095)ggA>ggC	p.G365G		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	365										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GTATCTTTTCTCCTGGAGTTA	0.378													False	0	False	15:40005738	0	G	40005738	T	G	40005738	2	3	88	1	0	0	0	0	0	0	0	1	6116	1538	54	4		4	FSIP1	15	40005738	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119188	40005738	62525654	14655	22367											
FSIP1	161835	broad.mit.edu	37	chr15	40018892	40018892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttcagcaagctgctgatgCtgggtgactgcaagttcata	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40018892C>A	ENST00000350221.3	-	9	1157	c.948G>T	c.(946-948)caG>caT	p.Q316H		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	316										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GCTGCTGATGCTGGGTGACTG	0.443													False	0	False	15:40018892	0	A	40018892	C	A	40018892	3	1	88	1	0	0	0	0	1	0	0	0	6116	796	28	3	813	3	FSIP1	15	40018892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13154	40018892	62512500	14656	22368											
EIF2AK4	440275	broad.mit.edu	37	chr15	40269004	40269004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcgatgacgaggacgaCgacgaggacgagcacggtgg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40269004C>T	ENST00000263791.5	+	12	2251	c.2208C>T	c.(2206-2208)gaC>gaT	p.D736D	EIF2AK4_ENST00000382727.2_Silent_p.D736D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	736	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACGAGGACGACGACGAGGACG	0.657													False	0	True	15:40269004	0	T	40269004	C	T	40269004	2	4	88	1	0	0	0	0	0	0	0	1	5029	535	19	1		1	EIF2AK4	15	40269004	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250112	40269004	62262388	14657	22369											
EIF2AK4	440275	broad.mit.edu	37	chr15	40303495	40303495	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgttagacagagaagctgaCgaggagagaagtggaagcta	15	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40303495C>T	ENST00000263791.5	+	27	3750	c.3707C>T	c.(3706-3708)aCg>aTg	p.T1236M	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T1208M	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1236	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GAGAAGCTGACGAGGAGAGAA	0.373													False	0	False	15:40303495	0	T	40303495	C	T	40303495	3	4	88	1	0	0	0	0	1	0	0	0	5029	536	19	1	3813	1	EIF2AK4	15	40303495	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34491	40303495	62227897	14658	22370											
BUB1B	701	broad.mit.edu	37	chr15	40494850	40494850	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccttgcagttctcaaaacCtcagaaagcatcacctcaaa	4	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40494850C>A	ENST00000287598.6	+	14	1884	c.1689C>A	c.(1687-1689)acC>acA	p.T563T	BUB1B_ENST00000412359.3_Silent_p.T577T	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	563					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTCTCAAAACCTCAGAAAGCA	0.403			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				False	0	False	15:40494850	0	A	40494850	C	A	40494850	2	1	88	1	0	0	0	0	0	0	0	1	1578	668	24	3		3	BUB1B	15	40494850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191355	40494850	62036542	14659	22371											
PAK6	56924	broad.mit.edu	37	chr15	40564567	40564567	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccccagaagtccctccGcacagccccggccacaggcc	9	22	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40564567G>A	ENST00000455577.2	+	6	1913	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	PAK6_ENST00000453867.1_Missense_Mutation_p.R334H|PAK6_ENST00000542403.2_Missense_Mutation_p.R334H|PAK6_ENST00000560346.1_Missense_Mutation_p.R334H|PAK6_ENST00000441369.1_Missense_Mutation_p.R334H|PAK6_ENST00000260404.4_Missense_Mutation_p.R334H|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	334	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AAGTCCCTCCGCACAGCCCCG	0.692													False	0	False	15:40564567	0	A	40564567	G	A	40564567	3	1	88	1	0	0	0	0	1	0	0	0	11472	1087	38	1	1011	1	PAK6	15	40564567	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69717	40564567	61966825	14660	22372											
PLCB2	5330	broad.mit.edu	37	chr15	40583386	40583386	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgcggggcaggctccTggggaggccacgtggggaca	18	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40583386T>C	ENST00000260402.3	-	27	3120		c.e27-2		PLCB2_ENST00000456256.2_Splice_Site|PLCB2_ENST00000557821.1_Splice_Site	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2						activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCAGGCTCCTGGGGAGGCCA	0.731													False	0	True	15:40583386	0	C	40583386	T	C	40583386	5	2	88	1	0	0	0	0	0	0	1	0	12097	1594	55	4	712	4	PLCB2	15	40583386	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18819	40583386	61948006	14661	22373											
PLCB2	5330	broad.mit.edu	37	chr15	40584302	40584302	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcctccttgagcttcacaGacttcgtgtcatgggcactg	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40584302G>T	ENST00000260402.3	-	23	2738	c.2489C>A	c.(2488-2490)tCt>tAt	p.S830Y	PLCB2_ENST00000456256.2_Missense_Mutation_p.S830Y|PLCB2_ENST00000557821.1_Missense_Mutation_p.S826Y	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	830					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAGCTTCACAGACTTCGTGTC	0.542													False	0	False	15:40584302	0	T	40584302	G	T	40584302	3	4	88	1	0	0	0	0	1	0	0	0	12097	942	33	3	1108	3	PLCB2	15	40584302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	916	40584302	61947090	14662	22374											
PLCB2	5330	broad.mit.edu	37	chr15	40595493	40595493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactggacacacctaccttgGgcatcttggcaaacttccca	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40595493G>A	ENST00000260402.3	-	3	476	c.227C>T	c.(226-228)cCc>cTc	p.P76L	PLCB2_ENST00000456256.2_Missense_Mutation_p.P76L|PLCB2_ENST00000557821.1_Missense_Mutation_p.P76L|PLCB2_ENST00000543785.2_Missense_Mutation_p.P76L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	76					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.P76L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACCTACCTTGGGCATCTTGGC	0.597													False	0	True	15:40595493	0	A	40595493	G	A	40595493	3	1	88	1	0	0	0	0	1	0	0	0	12097	1232	43	2	3450	2	PLCB2	15	40595493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11191	40595493	61935899	14663	22375											
DISP2	85455	broad.mit.edu	37	chr15	40659920	40659920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttaccaggtggccttccGcatggcctacttccccttcg	8	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40659920G>A	ENST00000267889.3	+	8	1694	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	536	SSD.				smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GTGGCCTTCCGCATGGCCTAC	0.617													False	0	False	15:40659920	0	A	40659920	G	A	40659920	3	1	88	1	0	0	0	0	1	0	0	0	4570	1087	38	1	1637	1	DISP2	15	40659920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64427	40659920	61871472	14664	22376											
DISP2	85455	broad.mit.edu	37	chr15	40662041	40662041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctataagcaggctggccccaGccccaaaacccgggccaggc	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40662041G>A	ENST00000267889.3	+	8	3815	c.3728G>A	c.(3727-3729)aGc>aAc	p.S1243N		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1243					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCTGGCCCCAGCCCCAAAACC	0.682													False	0	True	15:40662041	0	A	40662041	G	A	40662041	3	1	88	1	0	0	0	0	1	0	0	0	4570	971	34	2	3758	2	DISP2	15	40662041	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2121	40662041	61869351	14665	22377											
BAHD1	22893	broad.mit.edu	37	chr15	40751121	40751121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagcaggggatccccaccGcagccgtgaccgtgatcgtg	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40751121G>A	ENST00000561234.1	+	2	717	c.458G>A	c.(457-459)cGc>cAc	p.R153H	BAHD1_ENST00000560846.1_Missense_Mutation_p.R153H|BAHD1_ENST00000416165.1_Missense_Mutation_p.R153H			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	153					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GATCCCCACCGCAGCCGTGAC	0.662													False	0	False	15:40751121	0	A	40751121	G	A	40751121	3	1	88	1	0	0	0	0	1	0	0	0	1301	1087	38	1	460	1	BAHD1	15	40751121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89080	40751121	61780271	14666	22378											
BAHD1	22893	broad.mit.edu	37	chr15	40751773	40751773	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaatggcctgtgtgttggGcctgagctcactgcactagg	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40751773G>T	ENST00000561234.1	+	2	1369	c.1110G>T	c.(1108-1110)ggG>ggT	p.G370G	BAHD1_ENST00000560846.1_Silent_p.G370G|BAHD1_ENST00000416165.1_Silent_p.G370G			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	370					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TGTGTGTTGGGCCTGAGCTCA	0.632													False	0	True	15:40751773	0	T	40751773	G	T	40751773	2	4	88	1	0	0	0	0	0	0	0	1	1301	1190	42	3		3	BAHD1	15	40751773	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	652	40751773	61779619	14667	22379											
BAHD1	22893	broad.mit.edu	37	chr15	40754438	40754438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgccgccgccgtcgccgccGcactaatggctgggtacctg	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40754438G>A	ENST00000561234.1	+	3	2016	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	BAHD1_ENST00000560846.1_Missense_Mutation_p.R587H|BAHD1_ENST00000416165.1_Missense_Mutation_p.R587H			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	587	Arg-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGTCGCCGCCGCACTAATGGC	0.647													False	0	True	15:40754438	0	A	40754438	G	A	40754438	3	1	88	1	0	0	0	0	1	0	0	0	1301	1087	38	1	1766	1	BAHD1	15	40754438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2665	40754438	61776954	14668	22380											
CHST14	113189	broad.mit.edu	37	chr15	40764185	40764185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccctgcaggcgacgatgTcacattccccgagttcctga	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40764185T>C	ENST00000306243.5	+	1	1026	c.773T>C	c.(772-774)gTc>gCc	p.V258A	CHST14_ENST00000559991.1_Missense_Mutation_p.V233A	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	258					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGCGACGATGTCACATTCCCC	0.597													False	0	False	15:40764185	0	C	40764185	T	C	40764185	3	2	88	1	0	0	0	0	1	0	0	0	3425	1667	58	4	775	4	CHST14	15	40764185	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9747	40764185	61767207	14669	22381											
RPUSD2	27079	broad.mit.edu	37	chr15	40863937	40863937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcccgttcacccctgtggCcgcttccgacacaacacagt	7	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40863937C>T	ENST00000315616.7	+	2	779	c.741C>T	c.(739-741)ggC>ggT	p.G247G	RPUSD2_ENST00000559271.1_Silent_p.G186G	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	247					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		ACCCCTGTGGCCGCTTCCGAC	0.562													False	0	False	15:40863937	0	T	40863937	C	T	40863937	2	4	88	1	0	0	0	0	0	0	0	1	13746	726	26	2		2	RPUSD2	15	40863937	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99752	40863937	61667455	14670	22382											
CASC5	57082	broad.mit.edu	37	chr15	40920867	40920867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatactatttgtgaagagagCttgagggaggtatgttaaaa	13	2	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40920867C>T	ENST00000346991.5	+	13	6042	c.5652C>T	c.(5650-5652)agC>agT	p.S1884S	CASC5_ENST00000399668.2_Silent_p.S1858S			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1884	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GTGAAGAGAGCTTGAGGGAGG	0.313													False	0	True	15:40920867	0	T	40920867	C	T	40920867	2	4	88	1	0	0	0	0	0	0	0	1	2683	796	28	2		2	CASC5	15	40920867	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56930	40920867	61610525	14671	22383											
CASC5	57082	broad.mit.edu	37	chr15	40949277	40949277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcccttttagttcataaGcttattttccagtacgttga	5	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40949277G>T	ENST00000346991.5	+	24	6990	c.6600G>T	c.(6598-6600)aaG>aaT	p.K2200N	CASC5_ENST00000399668.2_Missense_Mutation_p.K2174N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2200	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		tagttcataagcttattttcc	0.368													False	0	False	15:40949277	0	T	40949277	G	T	40949277	3	4	88	1	0	0	0	0	1	0	0	0	2683	962	34	3	6690	3	CASC5	15	40949277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28410	40949277	61582115	14672	22384											
GCHFR	2644	broad.mit.edu	37	chr15	41059447	41059447	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaatactacgtcgatgaccCtccccgcatagtcctggaca	8	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41059447C>A	ENST00000558467.1	+	2	326	c.104C>A	c.(103-105)cCt>cAt	p.P35H	GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000260447.4_Missense_Mutation_p.P52H|GCHFR_ENST00000559445.1_Missense_Mutation_p.P41H|GCHFR_ENST00000559932.1_Missense_Mutation_p.P35H			P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	52					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GTCGATGACCCTCCCCGCATA	0.592													False	0	True	15:41059447	0	A	41059447	C	A	41059447	3	1	88	1	0	0	0	0	1	0	0	0	6335	681	24	3	165	3	GCHFR	15	41059447	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110170	41059447	61471945	14673	22385											
RHOV	171177	broad.mit.edu	37	chr15	41165267	41165267	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catagctgctcaaacgaagcAgaagaacttcttccagcggc	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41165267A>C	ENST00000220507.4	-	3	849	c.700T>G	c.(700-702)Tgc>Ggc	p.C234G		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	234					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CAAACGAAGCAGAAGAACTTC	0.572													False	0	False	15:41165267	0	C	41165267	A	C	41165267	3	2	88	1	0	0	0	0	1	0	0	0	13425	188	7	4	14	4	RHOV	15	41165267	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105820	41165267	61366125	14674	22386											
VPS18	57617	broad.mit.edu	37	chr15	41192523	41192523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagctctacctgagccggCttggggctctgcagggcgac	15	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41192523C>A	ENST00000220509.5	+	4	1846	c.1507C>A	c.(1507-1509)Ctt>Att	p.L503I	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	503					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCTGAGCCGGCTTGGGGCTCT	0.607													False	0	False	15:41192523	0	A	41192523	C	A	41192523	3	1	88	1	0	0	0	0	1	0	0	0	17278	797	28	3	1521	3	VPS18	15	41192523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27256	41192523	61338869	14675	22387											
VPS18	57617	broad.mit.edu	37	chr15	41194882	41194882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaattgcgcaagaagctGtggctgaagatcgcacggca	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41194882G>A	ENST00000220509.5	+	5	2604	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	VPS18_ENST00000558474.1_3'UTR	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	755					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCAAGAAGCTGTGGCTGAAGA	0.582													False	0	False	15:41194882	0	A	41194882	G	A	41194882	2	1	88	1	0	0	0	0	0	0	0	1	17278	1364	48	2		2	VPS18	15	41194882	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2359	41194882	61336510	14676	22388											
INO80	54617	broad.mit.edu	37	chr15	41275118	41275118	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaggccgctgcagccccGgctttggctcctgccattgc	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41275118G>A	ENST00000361937.3	-	35	4819	c.4395C>T	c.(4393-4395)gcC>gcT	p.A1465A	INO80_ENST00000401393.3_Silent_p.A1465A			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1465	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGCAGCCCCGGCTTTGGCTC	0.617													False	0	True	15:41275118	0	A	41275118	G	A	41275118	2	1	88	1	0	0	0	0	0	0	0	1	7796	1103	39	1		1	INO80	15	41275118	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80236	41275118	61256274	14677	22389											
INO80	54617	broad.mit.edu	37	chr15	41313242	41313242	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaacactgcttggctgccaGactccctccttccttcagaa	6	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41313242G>T	ENST00000361937.3	-	26	3554	c.3130C>A	c.(3130-3132)Ctg>Atg	p.L1044M	RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Missense_Mutation_p.L1044M			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1044	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGGCTGCCAGACTCCCTCCT	0.507													False	0	False	15:41313242	0	T	41313242	G	T	41313242	3	4	88	1	0	0	0	0	1	0	0	0	7796	933	33	3	1584	3	INO80	15	41313242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38124	41313242	61218150	14678	22390											
NUSAP1	51203	broad.mit.edu	37	chr15	41657701	41657701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgacgctcgcaaggccgGtcttgtggccctgcaagtca	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41657701G>A	ENST00000260359.6	+	7	981	c.717G>A	c.(715-717)cgG>cgA	p.R239R	NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560747.1_Silent_p.R252R|NUSAP1_ENST00000450592.2_Silent_p.R230R|NUSAP1_ENST00000414849.2_Silent_p.R253R|NUSAP1_ENST00000560177.1_Silent_p.R253R|NUSAP1_ENST00000450318.1_Silent_p.R254R|NUSAP1_ENST00000559596.1_Silent_p.R254R	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	254	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CGCAAGGCCGGTCTTGTGGCC	0.547													False	0	False	15:41657701	0	A	41657701	G	A	41657701	2	1	88	1	0	0	0	0	0	0	0	1	10846	1248	44	2		2	NUSAP1	15	41657701	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	344459	41657701	60873691	14679	22391											
RTF1	23168	broad.mit.edu	37	chr15	41745191	41745191	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacaggccaacaaaactgcCtcctcaggcagttcagacaa	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41745191C>A	ENST00000389629.4	+	3	414	c.402C>A	c.(400-402)gcC>gcA	p.A134A	RTF1_ENST00000462276.1_3'UTR	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	134					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ACAAAACTGCCTCCTCAGGCA	0.463													False	0	False	15:41745191	0	A	41745191	C	A	41745191	2	1	88	1	0	0	0	0	0	0	0	1	13800	668	24	3		3	RTF1	15	41745191	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87490	41745191	60786201	14680	22392											
RTF1	23168	broad.mit.edu	37	chr15	41758365	41758365	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccacaacaaggaacggcgTtccaagcgggatgagaaact	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41758365T>C	ENST00000389629.4	+	6	816	c.804T>C	c.(802-804)cgT>cgC	p.R268R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	268	Glu-rich.|Lys-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGGAACGGCGTTCCAAGCGGG	0.433													False	0	False	15:41758365	0	C	41758365	T	C	41758365	2	2	88	1	0	0	0	0	0	0	0	1	13800	1712	60	4		4	RTF1	15	41758365	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13174	41758365	60773027	14681	22393											
LTK	4058	broad.mit.edu	37	chr15	41805286	41805286	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgaggaccgcagaaaagtctCctgggaccccgggctagagc	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41805286C>A	ENST00000263800.6	-	2	172	c.76G>T	c.(76-78)Gag>Tag	p.E26*	LTK_ENST00000453182.2_Nonsense_Mutation_p.E26*|LTK_ENST00000355166.5_Nonsense_Mutation_p.E26*|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	26					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGAAAAGTCTCCTGGGACCCC	0.617										TSP Lung(18;0.14)			False	0	False	15:41805286	0	A	41805286	C	A	41805286	4	1	88	1	0	0	0	0	0	1	0	0	9142	864	30	3	2594	3	LTK	15	41805286	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46921	41805286	60726106	14682	22394											
RPAP1	26015	broad.mit.edu	37	chr15	41814074	41814074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggcagtggctgcagcGctgcctgcagacagaaaagc	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41814074G>A	ENST00000304330.4	-	21	3016	c.2900C>T	c.(2899-2901)gCg>gTg	p.A967V	RPAP1_ENST00000561603.1_Missense_Mutation_p.A967V	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	967	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity	p.A967V(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGCTGCAGCGCTGCCTGCAG	0.587													False	0	True	15:41814074	0	A	41814074	G	A	41814074	3	1	88	1	0	0	0	0	1	0	0	0	13620	1087	38	1	1301	1	RPAP1	15	41814074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8788	41814074	60717318	14683	22395											
RPAP1	26015	broad.mit.edu	37	chr15	41814317	41814317	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttctgggccagagcgagTgccaggtactgcaggtggta	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41814317T>C	ENST00000304330.4	-	20	2990	c.2874A>G	c.(2872-2874)gcA>gcG	p.A958A	RPAP1_ENST00000561603.1_Silent_p.A958A	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	958	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCAGAGCGAGTGCCAGGTACT	0.582													False	0	False	15:41814317	0	C	41814317	T	C	41814317	2	2	88	1	0	0	0	0	0	0	0	1	13620	1683	59	4		4	RPAP1	15	41814317	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	243	41814317	60717075	14684	22396											
MGA	23269	broad.mit.edu	37	chr15	41962075	41962075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagacttcccttaataTaaaacgagactttcttggtt	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41962075T>C	ENST00000219905.7	+	2	1164	c.983T>C	c.(982-984)aTa>aCa	p.I328T	MGA_ENST00000568630.1_Intron|MGA_ENST00000570161.1_Missense_Mutation_p.I328T|MGA_ENST00000389936.4_Missense_Mutation_p.I328T|MGA_ENST00000566586.1_Missense_Mutation_p.I328T|MGA_ENST00000545763.1_Missense_Mutation_p.I328T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	328						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCCCTTAATATAAAACGAGAC	0.408													False	0	True	15:41962075	0	C	41962075	T	C	41962075	3	2	88	1	0	0	0	0	1	0	0	0	9607	1406	49	4	985	4	MGA	15	41962075	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	147758	41962075	60569317	14685	22397											
MGA	23269	broad.mit.edu	37	chr15	41991346	41991346	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagcaggtgatacatcctgGtcttcaagaaggtaatagac	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41991346G>T	ENST00000219905.7	+	5	2358	c.2177G>T	c.(2176-2178)gGt>gTt	p.G726V	MGA_ENST00000570161.1_Missense_Mutation_p.G726V|MGA_ENST00000389936.4_Missense_Mutation_p.G726V|MGA_ENST00000566586.1_Missense_Mutation_p.G726V|MGA_ENST00000545763.1_Missense_Mutation_p.G726V	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	726						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATACATCCTGGTCTTCAAGAA	0.373													False	0	False	15:41991346	0	T	41991346	G	T	41991346	3	4	88	1	0	0	0	0	1	0	0	0	9607	1261	44	3	2191	3	MGA	15	41991346	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29271	41991346	60540046	14686	22398											
MGA	23269	broad.mit.edu	37	chr15	42035217	42035217	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagcatctccttcaaccataActcttcctgttgcttccact	3	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42035217A>G	ENST00000219905.7	+	15	5240	c.5059A>G	c.(5059-5061)Act>Gct	p.T1687A	MGA_ENST00000570161.1_Missense_Mutation_p.T1687A|MGA_ENST00000389936.4_Missense_Mutation_p.T1687A|MGA_ENST00000566586.1_Intron|MGA_ENST00000545763.1_Intron	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1687	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTCAACCATAACTCTTCCTGT	0.498													False	0	False	15:42035217	0	G	42035217	A	G	42035217	3	3	88	1	0	0	0	0	1	0	0	0	9607	43	2	4	5113	4	MGA	15	42035217	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43871	42035217	60496175	14687	22399											
MGA	23269	broad.mit.edu	37	chr15	42041402	42041402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctttctctgtcatgaatcCtgtaattcaagctgttgggt	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42041402C>A	ENST00000219905.7	+	17	5778	c.5597C>A	c.(5596-5598)cCt>cAt	p.P1866H	MGA_ENST00000570161.1_Missense_Mutation_p.P1866H|MGA_ENST00000389936.4_Missense_Mutation_p.P1827H|MGA_ENST00000566586.1_Missense_Mutation_p.P1657H|MGA_ENST00000545763.1_Missense_Mutation_p.P1657H	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1827						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTCATGAATCCTGTAATTCAA	0.488													False	0	False	15:42041402	0	A	42041402	C	A	42041402	3	1	88	1	0	0	0	0	1	0	0	0	9607	681	24	3	5659	3	MGA	15	42041402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6185	42041402	60489990	14688	22400											
MGA	23269	broad.mit.edu	37	chr15	42042630	42042630	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattttcagggtcacttactGctacctggagaacagataca	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42042630G>A	ENST00000219905.7	+	17	7006	c.6825G>A	c.(6823-6825)ctG>ctA	p.L2275L	MGA_ENST00000570161.1_Silent_p.L2275L|MGA_ENST00000389936.4_Silent_p.L2236L|MGA_ENST00000566586.1_Silent_p.L2066L|MGA_ENST00000545763.1_Silent_p.L2066L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2236						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTCACTTACTGCTACCTGGAG	0.438													False	0	False	15:42042630	0	A	42042630	G	A	42042630	2	1	88	1	0	0	0	0	0	0	0	1	9607	1306	46	2		2	MGA	15	42042630	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1228	42042630	60488762	14689	22401											
MGA	23269	broad.mit.edu	37	chr15	42057138	42057138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaccttgtgatgactcCgcaagggcaattgctcaccc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42057138C>T	ENST00000219905.7	+	23	7980	c.7799C>T	c.(7798-7800)cCg>cTg	p.P2600L	MGA_ENST00000570161.1_Missense_Mutation_p.P2600L|MGA_ENST00000389936.4_Missense_Mutation_p.P2561L|MGA_ENST00000566586.1_Missense_Mutation_p.P2391L|MGA_ENST00000545763.1_Missense_Mutation_p.P2391L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2561						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTGATGACTCCGCAAGGGCAA	0.443													False	0	False	15:42057138	0	T	42057138	C	T	42057138	3	4	88	1	0	0	0	0	1	0	0	0	9607	652	23	1	7885	1	MGA	15	42057138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14508	42057138	60474254	14690	22402											
MGA	23269	broad.mit.edu	37	chr15	42058209	42058209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtttttcagaaaatgaCgacttatttatgatgccacg	7	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42058209C>T	ENST00000219905.7	+	24	8110	c.7929C>T	c.(7927-7929)gaC>gaT	p.D2643D	MGA_ENST00000570161.1_Silent_p.D2643D|MGA_ENST00000389936.4_Silent_p.D2604D|MGA_ENST00000566586.1_Silent_p.D2434D|MGA_ENST00000545763.1_Silent_p.D2434D	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2604						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAGAAAATGACGACTTATTTA	0.353													False	0	False	15:42058209	0	T	42058209	C	T	42058209	2	4	88	1	0	0	0	0	0	0	0	1	9607	535	19	1		1	MGA	15	42058209	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1071	42058209	60473183	14691	22403											
MAPKBP1	23005	broad.mit.edu	37	chr15	42107871	42107871	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacacccaggccctgctggAcacagagctgcctggaggag	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42107871A>G	ENST00000457542.2	+	12	1653	c.1367A>G	c.(1366-1368)gAc>gGc	p.D456G	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.D462G|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D456G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D339G|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.D295G	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	462										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCCTGCTGGACACAGAGCTG	0.557													False	0	False	15:42107871	0	G	42107871	A	G	42107871	3	3	88	1	0	0	0	0	1	0	0	0	9359	275	10	4	1431	4	MAPKBP1	15	42107871	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49662	42107871	60423521	14692	22404											
MAPKBP1	23005	broad.mit.edu	37	chr15	42116132	42116132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcctgggcccagcagcccCtgtgcccagcaactgccagt	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42116132C>T	ENST00000457542.2	+	29	4372	c.4086C>T	c.(4084-4086)ccC>ccT	p.P1362P	MAPKBP1_ENST00000456763.2_Silent_p.P1368P|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000221214.6_Silent_p.P1245P|MAPKBP1_ENST00000260357.7_Silent_p.P1201P	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1368										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCAGCAGCCCCTGTGCCCAGC	0.607													False	0	True	15:42116132	0	T	42116132	C	T	42116132	2	4	88	1	0	0	0	0	0	0	0	1	9359	668	24	2		2	MAPKBP1	15	42116132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8261	42116132	60415260	14693	22405											
MAPKBP1	23005	broad.mit.edu	37	chr15	42116688	42116688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtctctttcagagccagCggtgagcctggagcagtgtg	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42116688C>T	ENST00000457542.2	+	30	4506	c.4220C>T	c.(4219-4221)gCg>gTg	p.A1407V	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.A1413V|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A1130V|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.A1290V|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A1246V	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1413										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCAGAGCCAGCGGTGAGCCTG	0.642													False	0	False	15:42116688	0	T	42116688	C	T	42116688	3	4	88	1	0	0	0	0	1	0	0	0	9359	768	27	1	4356	1	MAPKBP1	15	42116688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	556	42116688	60414704	14694	22406											
MAPKBP1	23005	broad.mit.edu	37	chr15	42117590	42117590	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctggagcaatactcagaaCtgttgcttcgagccgtggaa	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42117590C>T	ENST00000457542.2	+	31	4769	c.4483C>T	c.(4483-4485)Ctg>Ttg	p.L1495L	RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000456763.2_Silent_p.L1501L|MAPKBP1_ENST00000514566.1_Silent_p.L1218L|MAPKBP1_ENST00000221214.6_Silent_p.L1378L|MAPKBP1_ENST00000260357.7_Silent_p.L1334L	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1501										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATACTCAGAACTGTTGCTTCG	0.602													False	0	False	15:42117590	0	T	42117590	C	T	42117590	2	4	88	1	0	0	0	0	0	0	0	1	9359	564	20	2		2	MAPKBP1	15	42117590	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	902	42117590	60413802	14695	22407											
PLA2G4B	100137049	broad.mit.edu	37	chr15	42135893	42135893	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgagggagctggccgtgCgactgggcttcgggccctgt	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42135893C>T	ENST00000542534.2	+	16	1496	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	PLA2G4B_ENST00000452633.1_Nonsense_Mutation_p.R255*|JMJD7-PLA2G4B_ENST00000382448.4_Nonsense_Mutation_p.R486*|PLA2G4B_ENST00000458483.1_Nonsense_Mutation_p.R255*|JMJD7-PLA2G4B_ENST00000342159.4_Nonsense_Mutation_p.R486*	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GCTGGCCGTGCGACTGGGCTT	0.642													False	0	False	15:42135893	0	T	42135893	C	T	42135893	4	4	88	1	0	0	0	0	0	1	0	0	12071	760	27	1	805	1	PLA2G4B	15	42135893	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18303	42135893	60395499	14696	22408											
PLA2G4B	100137049	broad.mit.edu	37	chr15	42136770	42136770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgggcctcttggattgCgtctcctacatcaccggggc	13	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42136770C>T	ENST00000542534.2	+	17	1714	c.1674C>T	c.(1672-1674)tgC>tgT	p.C558C	PLA2G4B_ENST00000452633.1_Silent_p.C327C|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.C558C|PLA2G4B_ENST00000458483.1_Silent_p.C327C|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.C558C	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TCTTGGATTGCGTCTCCTACA	0.637													False	0	False	15:42136770	0	T	42136770	C	T	42136770	2	4	88	1	0	0	0	0	0	0	0	1	12071	776	27	1		1	PLA2G4B	15	42136770	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	877	42136770	60394622	14697	22409											
PLA2G4B	100137049	broad.mit.edu	37	chr15	42137858	42137858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgcgagttctctccctaCgaggtcggcttccccaagta	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42137858C>T	ENST00000542534.2	+	20	2113	c.2073C>T	c.(2071-2073)taC>taT	p.Y691Y	PLA2G4B_ENST00000452633.1_Silent_p.Y460Y|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.Y691Y|PLA2G4B_ENST00000458483.1_Silent_p.Y460Y|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.Y691Y	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TCTCTCCCTACGAGGTCGGCT	0.612													False	0	False	15:42137858	0	T	42137858	C	T	42137858	2	4	88	1	0	0	0	0	0	0	0	1	12071	547	19	1		1	PLA2G4B	15	42137858	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1088	42137858	60393534	14698	22410											
PLA2G4B	100137049	broad.mit.edu	37	chr15	42139009	42139009	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcatcctgtcattggaCtacaacctccacggagcctt	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42139009C>T	ENST00000542534.2	+	23	2656	c.2616C>T	c.(2614-2616)gaC>gaT	p.D872D	PLA2G4B_ENST00000452633.1_Silent_p.D641D|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.D872D|PLA2G4B_ENST00000458483.1_Silent_p.D641D|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.D872D	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TGTCATTGGACTACAACCTCC	0.637													False	0	False	15:42139009	0	T	42139009	C	T	42139009	2	4	88	1	0	0	0	0	0	0	0	1	12071	564	20	2		2	PLA2G4B	15	42139009	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1151	42139009	60392383	14699	22411											
PLA2G4B	100137049	broad.mit.edu	37	chr15	42139603	42139603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccatctcgcccagcccCgaagagcagctccagcctcg	8	21	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42139603C>T	ENST00000542534.2	+	24	2749	c.2709C>T	c.(2707-2709)ccC>ccT	p.P903P	PLA2G4B_ENST00000452633.1_Silent_p.P672P|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.P903P|PLA2G4B_ENST00000458483.1_Silent_p.P672P|JMJD7-PLA2G4B_ENST00000342159.4_Intron	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CGCCCAGCCCCGAAGAGCAGC	0.677													False	0	True	15:42139603	0	T	42139603	C	T	42139603	2	4	88	1	0	0	0	0	0	0	0	1	12071	639	23	1		1	PLA2G4B	15	42139603	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	594	42139603	60391789	14700	22412											
SPTBN5	51332	broad.mit.edu	37	chr15	42162667	42162667	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctgggtgaggacttccaAgagatctctgtgaactctga	12	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42162667A>G	ENST00000320955.6	-	30	5766	c.5539T>C	c.(5539-5541)Ttg>Ctg	p.L1847L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1847					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGGACTTCCAAGAGATCTCTG	0.647													False	0	False	15:42162667	0	G	42162667	A	G	42162667	2	3	88	1	0	0	0	0	0	0	0	1	15204	69	3	4		4	SPTBN5	15	42162667	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23064	42162667	60368725	14701	22413											
SPTBN5	51332	broad.mit.edu	37	chr15	42164561	42164561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctctcctgcaccacacGctgctgctcagggacttcgg	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42164561G>A	ENST00000320955.6	-	27	5331	c.5104C>T	c.(5104-5106)Cgt>Tgt	p.R1702C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1702					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCACCACACGCTGCTGCTCA	0.612													False	0	True	15:42164561	0	A	42164561	G	A	42164561	3	1	88	1	0	0	0	0	1	0	0	0	15204	1087	38	1	6088	1	SPTBN5	15	42164561	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1894	42164561	60366831	14702	22414											
SPTBN5	51332	broad.mit.edu	37	chr15	42166183	42166183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaggctgccaggctccGcccagaactcagcacccgtt	10	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42166183G>A	ENST00000320955.6	-	25	4977	c.4750C>T	c.(4750-4752)Cgg>Tgg	p.R1584W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1584					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCAGGCTCCGCCCAGAACTC	0.632													False	0	True	15:42166183	0	A	42166183	G	A	42166183	3	1	88	1	0	0	0	0	1	0	0	0	15204	1086	38	1	6450	1	SPTBN5	15	42166183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1622	42166183	60365209	14703	22415											
SPTBN5	51332	broad.mit.edu	37	chr15	42178429	42178429	+	Missense_Mutation	SNP	G	G	A													gaatgctgccagtagctgccGcatggcgggcagcgagtctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42178429G>A	ENST00000320955.6	-	7	1251	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	342					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		p.R342W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGTAGCTGCCGCATGGCGGGC	0.637													False	0	False	15:42178429	0	A	42178429	G	A	42178429	3	1	88	1	0	0	0	0	1	0	0	0	15204	1086	38	1	10248	1	SPTBN5	15	42178429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12246	42178429	60352963	14704	22416	242	2									
SPTBN5	51332	broad.mit.edu	37	chr15	42178435	42178435	+	Missense_Mutation	SNP	C	C	A													tgccagtagctgccgcatggCgggcagcgagtctggaaaat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42178435C>A	ENST00000320955.6	-	7	1245	c.1018G>T	c.(1018-1020)Gcc>Tcc	p.A340S		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	340					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCCGCATGGCGGGCAGCGAG	0.642													False	0	True	15:42178435	0	A	42178435	C	A	42178435	3	1	88	1	0	0	0	0	1	0	0	0	15204	768	27	3	10254	3	SPTBN5	15	42178435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	42178435	60352957	14705	22417	242	2									
EHD4	30844	broad.mit.edu	37	chr15	42211611	42211611	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccttgcctagggaccAcatgagggccccgtagaccc	12	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42211611A>C	ENST00000220325.4	-	4	804	c.721T>G	c.(721-723)Tgg>Ggg	p.W241G		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	241					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTAGGGACCACATGAGGGCC	0.632													False	0	False	15:42211611	0	C	42211611	A	C	42211611	3	2	88	1	0	0	0	0	1	0	0	0	5010	159	6	4	916	4	EHD4	15	42211611	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33176	42211611	60319781	14706	22418											
PLA2G4E	123745	broad.mit.edu	37	chr15	42276014	42276014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgagccgcagagcctggaGgagagtgtccttattattca	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42276014G>A	ENST00000399518.3	-	20	3031	c.2545C>T	c.(2545-2547)Ctc>Ttc	p.L849F	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L820F|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	837	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGAGCCTGGAGGAGAGTGTCC	0.547													False	0	False	15:42276014	0	A	42276014	G	A	42276014	3	1	88	1	0	0	0	0	1	0	0	0	12074	1000	35	2	65	2	PLA2G4E	15	42276014	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64403	42276014	60255378	14707	22419											
PLA2G4E	123745	broad.mit.edu	37	chr15	42285034	42285034	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagctcctcctggaatttGcggagctggtctgggaacag	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42285034G>A	ENST00000399518.3	-	13	1857	c.1371C>T	c.(1369-1371)cgC>cgT	p.R457R	PLA2G4E_ENST00000413860.2_Silent_p.R428R|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	445	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CCTGGAATTTGCGGAGCTGGT	0.582													False	0	True	15:42285034	0	A	42285034	G	A	42285034	2	1	88	1	0	0	0	0	0	0	0	1	12074	1306	46	2		2	PLA2G4E	15	42285034	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9020	42285034	60246358	14708	22420											
PLA2G4D	283748	broad.mit.edu	37	chr15	42364020	42364020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcctcctcatcagccgtcCcatgaagaactcggagccga	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42364020C>T	ENST00000290472.3	-	15	1619	c.1525G>A	c.(1525-1527)Gga>Aga	p.G509R		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	509	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ATCAGCCGTCCCATGAAGAAC	0.612													False	0	True	15:42364020	0	T	42364020	C	T	42364020	3	4	88	1	0	0	0	0	1	0	0	0	12073	632	22	2	955	2	PLA2G4D	15	42364020	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78986	42364020	60167372	14709	22421											
PLA2G4D	283748	broad.mit.edu	37	chr15	42373813	42373813	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacggccagctcctcagggCtgtggcaatggaggatccag	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42373813C>T	ENST00000290472.3	-	11	916		c.e11-1			NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)						phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTCCTCAGGGCTGTGGCAATG	0.617													False	0	True	15:42373813	0	T	42373813	C	T	42373813	5	4	88	1	0	0	0	0	0	0	1	0	12073	811	28	2	1675	2	PLA2G4D	15	42373813	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9793	42373813	60157579	14710	22422											
VPS39	23339	broad.mit.edu	37	chr15	42458803	42458803	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgtcctctcgtggcctttcaGaggggagttggctttcttgg	14	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42458803G>A	ENST00000318006.5	-	15	1726	c.1564C>T	c.(1564-1566)Ctg>Ttg	p.L522L	VPS39_ENST00000348544.4_Silent_p.L533L	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	533					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGGCCTTTCAGAGGGGAGTTG	0.557													False	0	False	15:42458803	0	A	42458803	G	A	42458803	2	1	88	1	0	0	0	0	0	0	0	1	17293	933	33	2		2	VPS39	15	42458803	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84990	42458803	60072589	14711	22423											
VPS39	23339	broad.mit.edu	37	chr15	42481361	42481361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctttgcctttgaaaccgtaGtgatttgttgaaatgtcaat	8	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42481361G>T	ENST00000318006.5	-	5	455	c.293C>A	c.(292-294)aCt>aAt	p.T98N	VPS39_ENST00000348544.4_Missense_Mutation_p.T109N	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	109	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGAAACCGTAGTGATTTGTTG	0.368													False	0	False	15:42481361	0	T	42481361	G	T	42481361	3	4	88	1	0	0	0	0	1	0	0	0	17293	1029	36	3	2418	3	VPS39	15	42481361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22558	42481361	60050031	14712	22424											
TMEM87A	25963	broad.mit.edu	37	chr15	42521011	42521011	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattgtttgagtcaggctaAtaaatatgtgtttgcaggtc	10	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42521011A>C	ENST00000389834.4	-	13	1403	c.1139T>G	c.(1138-1140)aTt>aGt	p.I380S	TMEM87A_ENST00000448392.1_Missense_Mutation_p.I319S	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	380						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AGTCAGGCTAATAAATATGTG	0.383													False	0	True	15:42521011	0	C	42521011	A	C	42521011	3	2	88	1	0	0	0	0	1	0	0	0	16292	101	4	4	560	4	TMEM87A	15	42521011	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39650	42521011	60010381	14713	22425											
GANC	2595	broad.mit.edu	37	chr15	42602499	42602499	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgatggagatgcttaccgTctttataacctggatgtcta	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42602499T>C	ENST00000318010.8	+	9	981	c.741T>C	c.(739-741)cgT>cgC	p.R247R	GANC_ENST00000566442.1_Silent_p.R247R	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	247					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ATGCTTACCGTCTTTATAACC	0.343													False	0	False	15:42602499	0	C	42602499	T	C	42602499	2	2	88	1	0	0	0	0	0	0	0	1	6277	1654	58	4		4	GANC	15	42602499	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81488	42602499	59928893	14714	22426											
GANC	2595	broad.mit.edu	37	chr15	42631902	42631902	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcattgggaatccagagacaGagctgctagtgcgttggtac	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42631902G>A	ENST00000318010.8	+	17	2119	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	627					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TCCAGAGACAGAGCTGCTAGT	0.542													False	0	False	15:42631902	0	A	42631902	G	A	42631902	3	1	88	1	0	0	0	0	1	0	0	0	6277	943	33	2	1945	2	GANC	15	42631902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29403	42631902	59899490	14715	22427											
CAPN3	825	broad.mit.edu	37	chr15	42652272	42652272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagacctctctcttttataGccagaagttccccatccagt	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42652272G>A	ENST00000397163.3	+	1	488	c.269G>A	c.(268-270)aGc>aAc	p.S90N	CAPN3_ENST00000357568.3_Missense_Mutation_p.S90N|CAPN3_ENST00000356316.3_Intron|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.S90N|CAPN3_ENST00000318023.7_Missense_Mutation_p.S90N	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	90	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CTCTTTTATAGCCAGAAGTTC	0.498													False	0	False	15:42652272	0	A	42652272	G	A	42652272	3	1	88	1	0	0	0	0	1	0	0	0	2648	971	34	2	323	2	CAPN3	15	42652272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20370	42652272	59879120	14716	22428											
CAPN3	825	broad.mit.edu	37	chr15	42693957	42693957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagaagaaccggcggaaGgaccggaagctaggggccag	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42693957G>A	ENST00000397163.3	+	11	1692	c.1473G>A	c.(1471-1473)aaG>aaA	p.K491K	CAPN3_ENST00000357568.3_Silent_p.K491K|CAPN3_ENST00000356316.3_Silent_p.K404K|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Silent_p.K443K|CAPN3_ENST00000318023.7_Silent_p.K491K	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	491	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACCGGCGGAAGGACCGGAAGC	0.577													False	0	False	15:42693957	0	A	42693957	G	A	42693957	2	1	88	1	0	0	0	0	0	0	0	1	2648	991	35	2		2	CAPN3	15	42693957	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41685	42693957	59837435	14717	22429											
CAPN3	825	broad.mit.edu	37	chr15	42695010	42695010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcacgggaacaagcagCacctgcagaaggacttcttc	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42695010C>T	ENST00000397163.3	+	13	1774	c.1555C>T	c.(1555-1557)Cac>Tac	p.H519Y	CAPN3_ENST00000357568.3_Missense_Mutation_p.H519Y|CAPN3_ENST00000356316.3_Missense_Mutation_p.H432Y|CAPN3_ENST00000397200.4_Missense_Mutation_p.H7Y|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.H471Y|CAPN3_ENST00000318023.7_Missense_Mutation_p.H519Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	519	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GAACAAGCAGCACCTGCAGAA	0.612													False	0	False	15:42695010	0	T	42695010	C	T	42695010	3	4	88	1	0	0	0	0	1	0	0	0	2648	710	25	2	1657	2	CAPN3	15	42695010	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1053	42695010	59836382	14718	22430											
CAPN3	825	broad.mit.edu	37	chr15	42702663	42702663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctcaacctgcaggagttccAccacctctggaacaagatta	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42702663A>G	ENST00000397163.3	+	20	2372	c.2153A>G	c.(2152-2154)cAc>cGc	p.H718R	CAPN3_ENST00000357568.3_Missense_Mutation_p.H712R|CAPN3_ENST00000337571.4_Missense_Mutation_p.H53R|CAPN3_ENST00000356316.3_Missense_Mutation_p.H625R|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000561817.1_Missense_Mutation_p.H53R|CAPN3_ENST00000569136.1_Missense_Mutation_p.H53R|CAPN3_ENST00000397200.4_Missense_Mutation_p.H206R|CAPN3_ENST00000397204.4_Missense_Mutation_p.H53R|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.H626R|CAPN3_ENST00000318023.7_Missense_Mutation_p.H712R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	718	Domain IV.|EF-hand 2.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CAGGAGTTCCACCACCTCTGG	0.537													False	0	False	15:42702663	0	G	42702663	A	G	42702663	3	3	88	1	0	0	0	0	1	0	0	0	2648	159	6	4	2283	4	CAPN3	15	42702663	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7653	42702663	59828729	14719	22431											
SNAP23	8773	broad.mit.edu	37	chr15	42822003	42822003	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaaatccacaaataaaaCgaatcacagacaaggtaaaa	4	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42822003C>T	ENST00000249647.3	+	7	1024	c.556C>T	c.(556-558)Cga>Tga	p.R186*	SNAP23_ENST00000564153.1_Intron|SNAP23_ENST00000397138.1_Nonsense_Mutation_p.R133*|SNAP23_ENST00000349777.1_Nonsense_Mutation_p.R133*	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	186	t-SNARE coiled-coil homology 2.				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding			large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		ACAAATAAAACGAATCACAGA	0.418													False	0	True	15:42822003	0	T	42822003	C	T	42822003	4	4	88	1	0	0	0	0	0	1	0	0	14909	528	19	1	578	1	SNAP23	15	42822003	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119340	42822003	59709389	14720	22432											
SNAP23	8773	broad.mit.edu	37	chr15	42823668	42823668	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagagcaaagaaactcattGacagctaaagctactgctgt	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42823668G>T	ENST00000249647.3	+	8	1096	c.628G>T	c.(628-630)Gac>Tac	p.D210Y	SNAP23_ENST00000564153.1_Missense_Mutation_p.L108F|SNAP23_ENST00000397138.1_Missense_Mutation_p.D157Y|SNAP23_ENST00000349777.1_Missense_Mutation_p.D157Y	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	210					cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding			large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		GAAACTCATTGACAGCTAAAG	0.383													False	0	False	15:42823668	0	T	42823668	G	T	42823668	3	4	88	1	0	0	0	0	1	0	0	0	14909	1290	45	3	654	3	SNAP23	15	42823668	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1665	42823668	59707724	14721	22433											
HAUS2	55142	broad.mit.edu	37	chr15	42853482	42853482	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatagctcagaagtgtcatActctgcaaagcatgaataat	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42853482A>G	ENST00000260372.3	+	4	334	c.271A>G	c.(271-273)Act>Gct	p.T91A	HAUS2_ENST00000568876.1_Missense_Mutation_p.T60A|HAUS2_ENST00000568846.2_Missense_Mutation_p.I89M	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	91					cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						GAAGTGTCATACTCTGCAAAG	0.363													False	0	False	15:42853482	0	G	42853482	A	G	42853482	3	3	88	1	0	0	0	0	1	0	0	0	7013	391	14	4	285	4	HAUS2	15	42853482	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29814	42853482	59677910	14722	22434											
CDAN1	146059	broad.mit.edu	37	chr15	43024010	43024010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcccccagcaccaccaGggctctgacacatctagggt	11	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43024010G>A	ENST00000356231.3	-	11	1570	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	516						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGCACCACCAGGGCTCTGACA	0.527													False	0	True	15:43024010	0	A	43024010	G	A	43024010	3	1	88	1	0	0	0	0	1	0	0	0	3077	1000	35	2	2208	2	CDAN1	15	43024010	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	170528	43024010	59507382	14723	22435											
CDAN1	146059	broad.mit.edu	37	chr15	43027493	43027493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttagttcagggtcgctgtcCttggcagtcaccatcctccg	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027493C>A	ENST00000356231.3	-	5	1046	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	341						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGTCGCTGTCCTTGGCAGTCA	0.493													False	0	False	15:43027493	0	A	43027493	C	A	43027493	3	1	88	1	0	0	0	0	1	0	0	0	3077	680	24	3	2756	3	CDAN1	15	43027493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3483	43027493	59503899	14724	22436											
CDAN1	146059	broad.mit.edu	37	chr15	43027557	43027557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagctccaagaagaggTttggtaccaggttctctaga	11	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027557T>C	ENST00000356231.3	-	5	982	c.959A>G	c.(958-960)aAc>aGc	p.N320S		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	320						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CAAGAAGAGGTTTGGTACCAG	0.498													False	0	True	15:43027557	0	C	43027557	T	C	43027557	3	2	88	1	0	0	0	0	1	0	0	0	3077	1725	60	4	2820	4	CDAN1	15	43027557	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	64	43027557	59503835	14725	22437											
CDAN1	146059	broad.mit.edu	37	chr15	43027821	43027821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtccggctggggaggggcGaccccaattctggggtggga	19	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027821G>A	ENST00000356231.3	-	4	853	c.830C>T	c.(829-831)tCg>tTg	p.S277L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	277						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGGGAGGGGCGACCCCAATTC	0.577													False	0	False	15:43027821	0	A	43027821	G	A	43027821	3	1	88	1	0	0	0	0	1	0	0	0	3077	1059	37	1	2953	1	CDAN1	15	43027821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	264	43027821	59503571	14726	22438											
TTBK2	146057	broad.mit.edu	37	chr15	43045264	43045264	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctgaagccccaaatctgttCtgcttcctccactaggaggt	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43045264C>A	ENST00000267890.6	-	14	2288	c.2180G>T	c.(2179-2181)aGa>aTa	p.R727I		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	727					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CAAATCTGTTCTGCTTCCTCC	0.463													False	0	False	15:43045264	0	A	43045264	C	A	43045264	3	1	88	1	0	0	0	0	1	0	0	0	16761	913	32	3	1562	3	TTBK2	15	43045264	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17443	43045264	59486128	14727	22439											
TTBK2	146057	broad.mit.edu	37	chr15	43067457	43067457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctgaagcagcagtaggaGgaccctctgcagaaagtgct	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43067457G>T	ENST00000267890.6	-	13	1982	c.1874C>A	c.(1873-1875)cCt>cAt	p.P625H		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	625					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGCAGTAGGAGGACCCTCTGC	0.483													False	0	False	15:43067457	0	T	43067457	G	T	43067457	3	4	88	1	0	0	0	0	1	0	0	0	16761	1000	35	3	1872	3	TTBK2	15	43067457	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22193	43067457	59463935	14728	22440											
UBR1	197131	broad.mit.edu	37	chr15	43351939	43351939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatccaggaaccaagacGcaaagcaaatttctgatgag	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43351939G>A	ENST00000290650.4	-	8	1024	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	UBR1_ENST00000382177.2_Missense_Mutation_p.R316C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	316					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GAACCAAGACGCAAAGCAAAT	0.348													False	0	True	15:43351939	0	A	43351939	G	A	43351939	3	1	88	1	0	0	0	0	1	0	0	0	16985	1087	38	1	4463	1	UBR1	15	43351939	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	284482	43351939	59179453	14729	22441											
EPB42	2038	broad.mit.edu	37	chr15	43503705	43503705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagtactccatgcgctgaGcctcattcttcaggaacaca	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43503705G>A	ENST00000300215.3	-	4	1005	c.548C>T	c.(547-549)gCt>gTt	p.A183V	EPB42_ENST00000540029.1_Missense_Mutation_p.A75V|EPB42_ENST00000441366.2_Missense_Mutation_p.A153V			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	153					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CATGCGCTGAGCCTCATTCTT	0.577													False	0	False	15:43503705	0	A	43503705	G	A	43503705	3	1	88	1	0	0	0	0	1	0	0	0	5190	971	34	2	1657	2	EPB42	15	43503705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151766	43503705	59027687	14730	22442											
TGM5	9333	broad.mit.edu	37	chr15	43527084	43527084	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttgtctgttgacaggtaCtggctgtactgggaatagga	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43527084C>T	ENST00000220420.5	-	11	1765	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q	TGM5_ENST00000349114.4_Silent_p.Q504Q	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	586					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TTGACAGGTACTGGCTGTACT	0.473													False	0	False	15:43527084	0	T	43527084	C	T	43527084	2	4	88	1	0	0	0	0	0	0	0	1	15915	564	20	2		2	TGM5	15	43527084	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23379	43527084	59004308	14731	22443											
TGM7	116179	broad.mit.edu	37	chr15	43571363	43571363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagatatcttttaggaccagCatggacctccctgtctcttc	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43571363C>A	ENST00000452443.2	-	11	1795	c.1791G>T	c.(1789-1791)atG>atT	p.M597I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	597					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTAGGACCAGCATGGACCTCC	0.547													False	0	False	15:43571363	0	A	43571363	C	A	43571363	3	1	88	1	0	0	0	0	1	0	0	0	15917	710	25	3	353	3	TGM7	15	43571363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44279	43571363	58960029	14732	22444											
TGM7	116179	broad.mit.edu	37	chr15	43574251	43574251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacatccccttccctgatgGccttcacagaggcagggcca	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43574251G>A	ENST00000452443.2	-	9	1146	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	381					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTCCCTGATGGCCTTCACAGA	0.607													False	0	False	15:43574251	0	A	43574251	G	A	43574251	3	1	88	1	0	0	0	0	1	0	0	0	15917	1203	42	2	1010	2	TGM7	15	43574251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2888	43574251	58957141	14733	22445											
LCMT2	9836	broad.mit.edu	37	chr15	43621480	43621480	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccacaactgcctatttggCtgcctttccattcagagtca	6	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43621480C>A	ENST00000305641.5	-	1	1323	c.1208G>T	c.(1207-1209)aGc>aTc	p.S403I	LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	403					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCCTATTTGGCTGCCTTTCCA	0.532													False	0	False	15:43621480	0	A	43621480	C	A	43621480	3	1	88	1	0	0	0	0	1	0	0	0	8730	797	28	3	856	3	LCMT2	15	43621480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47229	43621480	58909912	14734	22446											
ZSCAN29	146050	broad.mit.edu	37	chr15	43653581	43653581	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggttctctggtgaatgAtaaggcttgagctctgattg	14	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43653581A>C	ENST00000396976.2	-	5	2383	c.2249T>G	c.(2248-2250)aTc>aGc	p.I750S	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.I360S|ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.I361S	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	750					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTGGTGAATGATAAGGCTTGA	0.423													False	0	False	15:43653581	0	C	43653581	A	C	43653581	3	2	88	1	0	0	0	0	1	0	0	0	18318	333	12	4	313	4	ZSCAN29	15	43653581	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32101	43653581	58877811	14735	22447											
TUBGCP4	27229	broad.mit.edu	37	chr15	43672359	43672359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcgaagtgcactggaAaagtaagtcatggcttaact	10	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43672359A>C	ENST00000564079.1	+	6	759	c.519A>C	c.(517-519)gaA>gaC	p.E173D	TUBGCP4_ENST00000260383.7_Missense_Mutation_p.E173D|TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E37D	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	173					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTGCACTGGAAAAGTAAGTCA	0.448													False	0	True	15:43672359	0	C	43672359	A	C	43672359	3	2	88	1	0	0	0	0	1	0	0	0	16852	11	1	4	541	4	TUBGCP4	15	43672359	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18778	43672359	58859033	14736	22448											
TUBGCP4	27229	broad.mit.edu	37	chr15	43692416	43692416	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gataatcttcagtactatctCcaggtctgtgctaagagatg	9	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43692416C>T	ENST00000564079.1	+	14	1833	c.1593C>T	c.(1591-1593)ctC>ctT	p.L531L	TUBGCP4_ENST00000260383.7_Silent_p.L532L|TUBGCP4_ENST00000399460.3_3'UTR	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	532					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGTACTATCTCCAGGTCTGTG	0.443													False	0	False	15:43692416	0	T	43692416	C	T	43692416	2	4	88	1	0	0	0	0	0	0	0	1	16852	842	30	2		2	TUBGCP4	15	43692416	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20057	43692416	58838976	14737	22449											
TUBGCP4	27229	broad.mit.edu	37	chr15	43693986	43693986	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgagactttgaaagcatcCgattggctcatgaccacttc	8	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43693986C>T	ENST00000564079.1	+	15	1909	c.1669C>T	c.(1669-1671)Cga>Tga	p.R557*	TUBGCP4_ENST00000260383.7_Nonsense_Mutation_p.R558*|TUBGCP4_ENST00000399460.3_3'UTR	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	558					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGAAAGCATCCGATTGGCTCA	0.423													False	0	False	15:43693986	0	T	43693986	C	T	43693986	4	4	88	1	0	0	0	0	0	1	0	0	16852	644	23	1	1727	1	TUBGCP4	15	43693986	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1570	43693986	58837406	14738	22450											
TP53BP1	7158	broad.mit.edu	37	chr15	43705430	43705430	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtagcccagaaacaaggtcTtgttgagaggcaaaggccct	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43705430T>G	ENST00000263801.3	-	24	5429	c.5177A>C	c.(5176-5178)aAg>aCg	p.K1726T	TP53BP1_ENST00000382044.4_Missense_Mutation_p.K1731T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.K1729T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.K1681T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1726	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AAACAAGGTCTTGTTGAGAGG	0.562								Other conserved DNA damage response genes					False	0	False	15:43705430	0	G	43705430	T	G	43705430	3	3	88	1	0	0	0	0	1	0	0	0	16466	1609	56	4	761	4	TP53BP1	15	43705430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11444	43705430	58825962	14739	22451											
TP53BP1	7158	broad.mit.edu	37	chr15	43708516	43708516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttccttgctccaaggAcaggatgacagccattcgct	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43708516A>G	ENST00000263801.3	-	22	5017	c.4765T>C	c.(4765-4767)Tcc>Ccc	p.S1589P	TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1594P|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1594P|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1544P	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1589					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCTCCAAGGACAGGATGACA	0.473								Other conserved DNA damage response genes					False	0	False	15:43708516	0	G	43708516	A	G	43708516	3	3	88	1	0	0	0	0	1	0	0	0	16466	275	10	4	1181	4	TP53BP1	15	43708516	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3086	43708516	58822876	14740	22452											
TP53BP1	7158	broad.mit.edu	37	chr15	43713271	43713271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccccttcgcccacgcccaCgaggcgtgactggagccttc	12	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43713271C>T	ENST00000263801.3	-	20	4439	c.4187G>A	c.(4186-4188)cGt>cAt	p.R1396H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1401H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1401H|TP53BP1_ENST00000382039.3_Intron	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1396					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCCACGCCCACGAGGCGTGAC	0.572								Other conserved DNA damage response genes					False	0	False	15:43713271	0	T	43713271	C	T	43713271	3	4	88	1	0	0	0	0	1	0	0	0	16466	536	19	1	1767	1	TP53BP1	15	43713271	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4755	43713271	58818121	14741	22453											
MAP1A	4130	broad.mit.edu	37	chr15	43816613	43816613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accagcccttggagaagcagAggagcggtgccttagcccag	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43816613A>G	ENST00000382031.1	+	5	3687	c.3656A>G	c.(3655-3657)gAg>gGg	p.E1219G	MAP1A_ENST00000399453.1_Missense_Mutation_p.E981G|MAP1A_ENST00000300231.5_Missense_Mutation_p.E981G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	981						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGAAGCAGAGGAGCGGTGC	0.552													False	0	False	15:43816613	0	G	43816613	A	G	43816613	3	3	88	1	0	0	0	0	1	0	0	0	9294	304	11	4	2944	4	MAP1A	15	43816613	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103342	43816613	58714779	14742	22454											
MAP1A	4130	broad.mit.edu	37	chr15	43816999	43816999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcaggagagcccacaGgcccaattctgggagcagaa	15	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43816999G>A	ENST00000382031.1	+	5	4073	c.4042G>A	c.(4042-4044)Ggc>Agc	p.G1348S	MAP1A_ENST00000399453.1_Missense_Mutation_p.G1110S|MAP1A_ENST00000300231.5_Missense_Mutation_p.G1110S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1110						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGCCCACAGGCCCAATTCT	0.507													False	0	False	15:43816999	0	A	43816999	G	A	43816999	3	1	88	1	0	0	0	0	1	0	0	0	9294	1000	35	2	3330	2	MAP1A	15	43816999	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	386	43816999	58714393	14743	22455											
MAP1A	4130	broad.mit.edu	37	chr15	43817488	43817488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagatgggacaactcgaTactctgcacagacagacatc	8	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43817488T>C	ENST00000382031.1	+	5	4562	c.4531T>C	c.(4531-4533)Tac>Cac	p.Y1511H	MAP1A_ENST00000399453.1_Missense_Mutation_p.Y1273H|MAP1A_ENST00000300231.5_Missense_Mutation_p.Y1273H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1273						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACAACTCGATACTCTGCACA	0.537													False	0	False	15:43817488	0	C	43817488	T	C	43817488	3	2	88	1	0	0	0	0	1	0	0	0	9294	1406	49	4	3819	4	MAP1A	15	43817488	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	489	43817488	58713904	14744	22456											
MAP1A	4130	broad.mit.edu	37	chr15	43818982	43818982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggggctagaggtggagCgctggcttgctgaatcacca	16	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43818982C>T	ENST00000382031.1	+	5	6056	c.6025C>T	c.(6025-6027)Cgc>Tgc	p.R2009C	MAP1A_ENST00000399453.1_Missense_Mutation_p.R1771C|MAP1A_ENST00000300231.5_Missense_Mutation_p.R1771C			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1771						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGGTGGAGCGCTGGCTTGC	0.587													False	0	False	15:43818982	0	T	43818982	C	T	43818982	3	4	88	1	0	0	0	0	1	0	0	0	9294	768	27	1	5313	1	MAP1A	15	43818982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1494	43818982	58712410	14745	22457											
PPIP5K1	9677	broad.mit.edu	37	chr15	43873540	43873540	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttcccatccaaagctggaGattttctagcttcagcatgg	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43873540G>T	ENST00000420765.1	-	9	1006	c.824C>A	c.(823-825)tCt>tAt	p.S275Y	PPIP5K1_ENST00000360135.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.S275Y|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.S275Y	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	275					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						CAAAGCTGGAGATTTTCTAGC	0.493													False	0	False	15:43873540	0	T	43873540	G	T	43873540	3	4	88	1	0	0	0	0	1	0	0	0	12406	942	33	3	3693	3	PPIP5K1	15	43873540	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54558	43873540	58657852	14746	22458											
STRC	161497	broad.mit.edu	37	chr15	43897593	43897593	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatagtctgtccatcaactGgatcctattacagcaatttg	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43897593G>A	ENST00000450892.2	-	19	3876	c.3799C>T	c.(3799-3801)Cag>Tag	p.Q1267*	STRC_ENST00000541030.1_Nonsense_Mutation_p.Q494*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1267					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCCATCAACTGGATCCTATTA	0.532													False	0	False	15:43897593	0	A	43897593	G	A	43897593	4	1	88	1	0	0	0	0	0	1	0	0	15410	1357	47	2	1572	2	STRC	15	43897593	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24053	43897593	58633799	14747	22459											
STRC	161497	broad.mit.edu	37	chr15	43910165	43910165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagttggggtaggggggcCcccaggaactaaggctccca	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43910165C>T	ENST00000450892.2	-	2	531	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	152					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTAGGGGGGCCCCCAGGAACT	0.637													False	0	True	15:43910165	0	T	43910165	C	T	43910165	3	4	88	1	0	0	0	0	1	0	0	0	15410	623	22	2	4985	2	STRC	15	43910165	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12572	43910165	58621227	14748	22460											
CKMT1A	548596	broad.mit.edu	37	chr15	43990318	43990318	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactggacttcgggcaggagTgcacatcaaactgcccctgc	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43990318T>C	ENST00000413453.2	+	7	1507	c.983T>C	c.(982-984)gTg>gCg	p.V328A	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Missense_Mutation_p.V328A			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	328	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CGGGCAGGAGTGCACATCAAA	0.532													False	0	False	15:43990318	0	C	43990318	T	C	43990318	3	2	88	1	0	0	0	0	1	0	0	0	3472	1696	59	4	1009	4	CKMT1A	15	43990318	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80153	43990318	58541074	14749	22461											
PDIA3	2923	broad.mit.edu	37	chr15	44057696	44057696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactaacaagtttgaggaCaagactgtggcatatacaga	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44057696C>T	ENST00000300289.5	+	6	799	c.651C>T	c.(649-651)gaC>gaT	p.D217D	PDIA3_ENST00000538521.1_Silent_p.D197D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	217				D -> Y (in Ref. 1; BAA03759).	cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AGTTTGAGGACAAGACTGTGG	0.358													False	0	False	15:44057696	0	T	44057696	C	T	44057696	2	4	88	1	0	0	0	0	0	0	0	1	11737	477	17	2		2	PDIA3	15	44057696	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67378	44057696	58473696	14750	22462											
PDIA3	2923	broad.mit.edu	37	chr15	44059072	44059072	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgttgctatcagaactgCtaaaggagagaagtttgtca	11	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44059072C>A	ENST00000300289.5	+	8	1140	c.992C>A	c.(991-993)gCt>gAt	p.A331D	PDIA3_ENST00000538521.1_Missense_Mutation_p.A311D	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	331					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		ATCAGAACTGCTAAAGGAGAG	0.428													False	0	False	15:44059072	0	A	44059072	C	A	44059072	3	1	88	1	0	0	0	0	1	0	0	0	11737	797	28	3	1022	3	PDIA3	15	44059072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1376	44059072	58472320	14751	22463											
PDIA3	2923	broad.mit.edu	37	chr15	44062493	44062493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccaagatggatgccacaGccaatgatgtgccttctcca	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44062493G>A	ENST00000300289.5	+	11	1460	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	PDIA3_ENST00000538521.1_Missense_Mutation_p.A418T	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	438	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGATGCCACAGCCAATGATGT	0.398													False	0	False	15:44062493	0	A	44062493	G	A	44062493	3	1	88	1	0	0	0	0	1	0	0	0	11737	971	34	2	1354	2	PDIA3	15	44062493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3421	44062493	58468899	14752	22464											
FRMD5	84978	broad.mit.edu	37	chr15	44184228	44184228	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaacaacaaacccaaAaggagtgaaggccagaaatg	10	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44184228A>C	ENST00000417257.1	-	8	855	c.679T>G	c.(679-681)Ttt>Gtt	p.F227V	FRMD5_ENST00000402883.1_Missense_Mutation_p.F227V|FRMD5_ENST00000484674.1_Missense_Mutation_p.F138V	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	227	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ACAAACCCAAAAGGAGTGAAG	0.448													False	0	True	15:44184228	0	C	44184228	A	C	44184228	3	2	88	1	0	0	0	0	1	0	0	0	6095	14	1	4	1061	4	FRMD5	15	44184228	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	121735	44184228	58347164	14753	22465											
FRMD5	84978	broad.mit.edu	37	chr15	44216429	44216429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttatctgggtctacaaagcGgataccaaaatagtctttct	7	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44216429G>A	ENST00000417257.1	-	2	357	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FRMD5_ENST00000402883.1_Missense_Mutation_p.R61C|FRMD5_ENST00000484674.1_5'UTR	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	61	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TCTACAAAGCGGATACCAAAA	0.428													False	0	False	15:44216429	0	A	44216429	G	A	44216429	3	1	88	1	0	0	0	0	1	0	0	0	6095	1116	39	1	1583	1	FRMD5	15	44216429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32201	44216429	58314963	14754	22466											
CASC4	113201	broad.mit.edu	37	chr15	44581358	44581358	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgccacgtcctgcttcaggAggaggtggccgagctgcagg	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44581358A>C	ENST00000299957.6	+	1	430	c.131A>C	c.(130-132)gAg>gCg	p.E44A	CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.E44A|CASC4_ENST00000360824.3_Missense_Mutation_p.E44A	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	44						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CTGCTTCAGGAGGAGGTGGCC	0.662													False	0	True	15:44581358	0	C	44581358	A	C	44581358	3	2	88	1	0	0	0	0	1	0	0	0	2682	304	11	4	133	4	CASC4	15	44581358	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	364929	44581358	57950034	14755	22467											
CASC4	113201	broad.mit.edu	37	chr15	44695169	44695169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatggggatgatggtaacgTaggtgagtatgaggcagaca	16	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44695169T>C	ENST00000299957.6	+	9	1456	c.1157T>C	c.(1156-1158)gTa>gCa	p.V386A	CASC4_ENST00000345795.2_Intron|RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_Intron	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	386						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GATGGTAACGTAGGTGAGTAT	0.507													False	0	False	15:44695169	0	C	44695169	T	C	44695169	3	2	88	1	0	0	0	0	1	0	0	0	2682	1638	57	4	1191	4	CASC4	15	44695169	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	113811	44695169	57836223	14756	22468											
SPG11	80208	broad.mit.edu	37	chr15	44855412	44855412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttgtgttcgtatgccaaCttgtaatacaggtaaacatc	7	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44855412C>T	ENST00000261866.7	-	40	7255	c.7239G>A	c.(7237-7239)aaG>aaA	p.K2413K	SPG11_ENST00000427534.2_3'UTR|SPG11_ENST00000535302.2_Silent_p.K2300K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2413					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CGTATGCCAACTTGTAATACA	0.363													False	0	False	15:44855412	0	T	44855412	C	T	44855412	2	4	88	1	0	0	0	0	0	0	0	1	15123	564	20	2		2	SPG11	15	44855412	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160243	44855412	57675980	14757	22469											
SPG11	80208	broad.mit.edu	37	chr15	44951421	44951421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttcaggaaatataatatGtaggatgacacatttgttga	8	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44951421G>A	ENST00000261866.7	-	3	539	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	SPG11_ENST00000427534.2_Missense_Mutation_p.H175Y|SPG11_ENST00000558319.1_Missense_Mutation_p.H175Y|SPG11_ENST00000535302.2_Missense_Mutation_p.H175Y|SPG11_ENST00000559193.1_Missense_Mutation_p.H175Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	175					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AATATAATATGTAGGATGACA	0.368													False	0	False	15:44951421	0	A	44951421	G	A	44951421	3	1	88	1	0	0	0	0	1	0	0	0	15123	1377	48	2	6960	2	SPG11	15	44951421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96009	44951421	57579971	14758	22470											
TRIM69	0	broad.mit.edu	37	chr15	45050992	45050992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcaatgtctcttagccaaGgatatgttggtgagcattca	11	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45050992G>T	ENST00000558173.1	+	2	4886	c.141G>T	c.(139-141)aaG>aaT	p.K47N	TRIM69_ENST00000560442.1_Missense_Mutation_p.K47N|TRIM69_ENST00000559390.1_Missense_Mutation_p.K251N|TRIM69_ENST00000338264.4_Missense_Mutation_p.K92N|TRIM69_ENST00000558329.1_Missense_Mutation_p.K47N|TRIM69_ENST00000329464.4_Missense_Mutation_p.K251N|TRIM69_ENST00000561043.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	251	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TCTTAGCCAAGGATATGTTGG	0.453													False	0	False	15:45050992	0	T	45050992	G	T	45050992	3	4	88	1	0	0	0	0	1	0	0	0	16625	991	35	3	767	3	TRIM69	15	45050992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99571	45050992	57480400	14759	22471											
TRIM69	0	broad.mit.edu	37	chr15	45059546	45059546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcctgatgatcctgagaGgtttgactcaagtgtggctg	13	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45059546G>A	ENST00000558173.1	+	5	5212	c.467G>A	c.(466-468)aGg>aAg	p.R156K	TRIM69_ENST00000560442.1_Missense_Mutation_p.R156K|TRIM69_ENST00000559390.1_Missense_Mutation_p.R360K|TRIM69_ENST00000338264.4_Missense_Mutation_p.R201K|TRIM69_ENST00000558329.1_Missense_Mutation_p.R139K|TRIM69_ENST00000329464.4_Missense_Mutation_p.R360K|TRIM69_ENST00000561043.1_Missense_Mutation_p.R123K			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	360					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GATCCTGAGAGGTTTGACTCA	0.478													False	0	False	15:45059546	0	A	45059546	G	A	45059546	3	1	88	1	0	0	0	0	1	0	0	0	16625	1000	35	2	1105	2	TRIM69	15	45059546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8554	45059546	57471846	14760	22472											
DUOX2	50506	broad.mit.edu	37	chr15	45394056	45394056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctcgctgtcatggtccCgcagcatgaagtgaaaatcc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45394056C>T	ENST00000389039.6	-	21	3171	c.2786G>A	c.(2785-2787)cGg>cAg	p.R929Q	DUOX2_ENST00000603300.1_Missense_Mutation_p.R929Q			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	929	EF-hand 3.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GTCATGGTCCCGCAGCATGAA	0.587													False	0	True	15:45394056	0	T	45394056	C	T	45394056	3	4	88	1	0	0	0	0	1	0	0	0	4831	652	23	1	1916	1	DUOX2	15	45394056	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334510	45394056	57137336	14761	22473											
DUOXA2	405753	broad.mit.edu	37	chr15	45408806	45408806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccgcggagtacgcgaacGcactggagaaggggctgccg	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45408806G>A	ENST00000323030.5	+	4	718	c.433G>A	c.(433-435)Gca>Aca	p.A145T		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	145					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GTACGCGAACGCACTGGAGAA	0.607													False	0	False	15:45408806	0	A	45408806	G	A	45408806	3	1	88	1	0	0	0	0	1	0	0	0	4833	1087	38	1	447	1	DUOXA2	15	45408806	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14750	45408806	57122586	14762	22474											
DUOX1	53905	broad.mit.edu	37	chr15	45431796	45431796	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctcccggagcaatgacaCtgtgaggaggggtcaggacc	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45431796C>T	ENST00000321429.4	+	13	1795	c.1388C>T	c.(1387-1389)aCt>aTt	p.T463I	DUOX1_ENST00000389037.3_Splice_Site_p.T463I|DUOX1_ENST00000561166.1_Splice_Site_p.T109I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	463	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGCAATGACACTGTGAGGAGG	0.602													False	0	False	15:45431796	0	T	45431796	C	T	45431796	5	4	88	1	0	0	0	0	0	0	1	0	4830	579	20	2	1430	2	DUOX1	15	45431796	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22990	45431796	57099596	14763	22475											
DUOX1	53905	broad.mit.edu	37	chr15	45437193	45437193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccaggagtgggagctgcGggagcaggagctgatgagag	19	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45437193G>A	ENST00000321429.4	+	19	2644	c.2237G>A	c.(2236-2238)cGg>cAg	p.R746Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R746Q|DUOX1_ENST00000561166.1_Missense_Mutation_p.R392Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	746					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGGGAGCTGCGGGAGCAGGAG	0.597													False	0	True	15:45437193	0	A	45437193	G	A	45437193	3	1	88	1	0	0	0	0	1	0	0	0	4830	1116	39	1	2303	1	DUOX1	15	45437193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5397	45437193	57094199	14764	22476											
DUOX1	53905	broad.mit.edu	37	chr15	45444185	45444185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcattgagaactaccggcGccacatcggctgcgtggccg	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45444185G>A	ENST00000321429.4	+	25	3535	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	DUOX1_ENST00000389037.3_Missense_Mutation_p.R1043H|DUOX1_ENST00000561166.1_Missense_Mutation_p.R689H	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1043	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AACTACCGGCGCCACATCGGC	0.587													False	0	False	15:45444185	0	A	45444185	G	A	45444185	3	1	88	1	0	0	0	0	1	0	0	0	4830	1087	38	1	3218	1	DUOX1	15	45444185	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6992	45444185	57087207	14765	22477											
DUOX1	53905	broad.mit.edu	37	chr15	45448079	45448079	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacttccgccgccgcagtttCcggggcttctggctgaccca	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45448079C>A	ENST00000321429.4	+	29	4061	c.3654C>A	c.(3652-3654)ttC>ttA	p.F1218L	DUOX1_ENST00000389037.3_Missense_Mutation_p.F1218L|DUOX1_ENST00000561166.1_Missense_Mutation_p.F864L|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1218	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCGCAGTTTCCGGGGCTTCT	0.582													False	0	True	15:45448079	0	A	45448079	C	A	45448079	3	1	88	1	0	0	0	0	1	0	0	0	4830	854	30	3	3760	3	DUOX1	15	45448079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3894	45448079	57083313	14766	22478											
DUOX1	53905	broad.mit.edu	37	chr15	45453117	45453117	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagcaatcatctatggggGcgacaagctggtgagcctga	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45453117G>T	ENST00000321429.4	+	30	4192	c.3785G>T	c.(3784-3786)gGc>gTc	p.G1262V	DUOX1_ENST00000389037.3_Missense_Mutation_p.G1262V|DUOX1_ENST00000561166.1_Missense_Mutation_p.G908V|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1262	Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATCTATGGGGGCGACAAGCTG	0.577													False	0	True	15:45453117	0	T	45453117	G	T	45453117	3	4	88	1	0	0	0	0	1	0	0	0	4830	1203	42	3	3895	3	DUOX1	15	45453117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5038	45453117	57078275	14767	22479											
DUOX1	53905	broad.mit.edu	37	chr15	45455749	45455749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctacttcatctgggtgaCgcggacccagcgtcagtttg	12	11	4	1	rs140681354	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45455749C>T	ENST00000321429.4	+	33	4675	c.4268C>T	c.(4267-4269)aCg>aTg	p.T1423M	DUOX1_ENST00000389037.3_Missense_Mutation_p.T1423M|DUOX1_ENST00000561166.1_Missense_Mutation_p.T1069M|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1423					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATCTGGGTGACGCGGACCCAG	0.562											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	15:45455749	0	T	45455749	C	T	45455749	3	4	88	1	0	0	0	0	1	0	0	0	4830	536	19	1	4390	1	DUOX1	15	45455749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2632	45455749	57075643	14768	22480											
DUOX1	53905	broad.mit.edu	37	chr15	45455883	45455883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgacctcaggaccactatgCtggtatgtcagggcccacca	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45455883C>A	ENST00000321429.4	+	33	4809	c.4402C>A	c.(4402-4404)Ctg>Atg	p.L1468M	DUOX1_ENST00000389037.3_Missense_Mutation_p.L1468M|DUOX1_ENST00000561166.1_Missense_Mutation_p.L1114M|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1468					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GACCACTATGCTGGTATGTCA	0.567											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	15:45455883	0	A	45455883	C	A	45455883	3	1	88	1	0	0	0	0	1	0	0	0	4830	796	28	3	4524	3	DUOX1	15	45455883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134	45455883	57075509	14769	22481											
SEMA6D	80031	broad.mit.edu	37	chr15	48055280	48055280	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctttcgagaaatcgctgtCgaacataataatttaggcaa	7	7	1	1	rs141276774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48055280C>T	ENST00000316364.5	+	9	1165	c.726C>T	c.(724-726)gtC>gtT	p.V242V	SEMA6D_ENST00000358066.4_Silent_p.V242V|SEMA6D_ENST00000537942.1_Silent_p.V242V|SEMA6D_ENST00000558816.1_Silent_p.V242V|SEMA6D_ENST00000389432.2_Silent_p.V242V|SEMA6D_ENST00000536845.2_Silent_p.V242V|SEMA6D_ENST00000354744.4_Silent_p.V242V|SEMA6D_ENST00000355997.3_Silent_p.V242V|SEMA6D_ENST00000389428.3_Silent_p.V242V|SEMA6D_ENST00000389425.3_Silent_p.V242V|SEMA6D_ENST00000558014.1_Silent_p.V242V|SEMA6D_ENST00000389433.2_Silent_p.V242V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	242	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.V242V(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAATCGCTGTCGAACATAATA	0.363													False	0	False	15:48055280	0	T	48055280	C	T	48055280	2	4	88	1	0	0	0	0	0	0	0	1	14123	871	31	1		1	SEMA6D	15	48055280	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2599397	48055280	54476112	14770	22482											
SEMA6D	80031	broad.mit.edu	37	chr15	48056061	48056061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggctgtgtattcccgCgtggcccgcatatgtaaaaa	13	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48056061C>T	ENST00000316364.5	+	10	1201	c.762C>T	c.(760-762)cgC>cgT	p.R254R	SEMA6D_ENST00000358066.4_Silent_p.R254R|SEMA6D_ENST00000537942.1_Silent_p.R254R|SEMA6D_ENST00000558816.1_Silent_p.R254R|SEMA6D_ENST00000389432.2_Silent_p.R254R|SEMA6D_ENST00000536845.2_Silent_p.R254R|SEMA6D_ENST00000354744.4_Silent_p.R254R|SEMA6D_ENST00000355997.3_Silent_p.R254R|SEMA6D_ENST00000389428.3_Silent_p.R254R|SEMA6D_ENST00000389425.3_Silent_p.R254R|SEMA6D_ENST00000558014.1_Silent_p.R254R|SEMA6D_ENST00000389433.2_Silent_p.R254R	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	254	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTATTCCCGCGTGGCCCGCA	0.493													False	0	False	15:48056061	0	T	48056061	C	T	48056061	2	4	88	1	0	0	0	0	0	0	0	1	14123	755	27	1		1	SEMA6D	15	48056061	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	781	48056061	54475331	14771	22483											
SLC24A5	283652	broad.mit.edu	37	chr15	48414088	48414088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttatttctccatcatcGgagtttcccgaagggttttt	9	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48414088G>A	ENST00000482911.2	+	2	197	c.156G>A	c.(154-156)tcG>tcA	p.S52S	SLC24A5_ENST00000449382.2_Intron|SLC24A5_ENST00000341459.3_Silent_p.S52S			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	52					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTCCATCATCGGAGTTTCCCG	0.428													False	0	False	15:48414088	0	A	48414088	G	A	48414088	2	1	88	1	0	0	0	0	0	0	0	1	14549	1103	39	1		1	SLC24A5	15	48414088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	358027	48414088	54117304	14772	22484											
SLC24A5	283652	broad.mit.edu	37	chr15	48426538	48426538	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattagttactgctttcctaGgtaaatattgctccttatac	5	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48426538G>A	ENST00000341459.3	+	3	458	c.385G>A	c.(385-387)Ggt>Agt	p.G129S	SLC24A5_ENST00000449382.2_Splice_Site_p.G69S	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	129					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TGCTTTCCTAGGTAAATATTG	0.388													False	0	False	15:48426538	0	A	48426538	G	A	48426538	5	1	88	1	0	0	0	0	0	0	1	0	14549	1014	35	2	395	2	SLC24A5	15	48426538	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12450	48426538	54104854	14773	22485											
MYEF2	50804	broad.mit.edu	37	chr15	48441415	48441415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctctctctcattccgcttCccattggacccgataaaaat	4	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48441415C>T	ENST00000324324.7	-	15	1811	c.1532G>A	c.(1531-1533)gGa>gAa	p.G511E	MYEF2_ENST00000267836.6_Missense_Mutation_p.G487E	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	511	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CATTCCGCTTCCCATTGGACC	0.393													False	0	True	15:48441415	0	T	48441415	C	T	48441415	3	4	88	1	0	0	0	0	1	0	0	0	10091	855	30	2	282	2	MYEF2	15	48441415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14877	48441415	54089977	14774	22486											
SLC12A1	6557	broad.mit.edu	37	chr15	48537060	48537060	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctatgacttctcaagatgtCgacatgaaccatgtcagtac	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48537060C>T	ENST00000396577.3	+	11	1626	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.R471*|SLC12A1_ENST00000558405.1_Nonsense_Mutation_p.R471*	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	471					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CTCAAGATGTCGACATGAACC	0.423													False	0	False	15:48537060	0	T	48537060	C	T	48537060	4	4	88	1	0	0	0	0	0	1	0	0	14463	876	31	1	1549	1	SLC12A1	15	48537060	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95645	48537060	53994332	14775	22487											
DUT	1854	broad.mit.edu	37	chr15	48628255	48628255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttagctccacggtcagGcttggctgcaaaacacttta	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48628255G>A	ENST00000331200.3	+	4	617	c.524G>A	c.(523-525)gGc>gAc	p.G175D	DUT_ENST00000558813.1_Missense_Mutation_p.G64D|DUT_ENST00000455976.2_Missense_Mutation_p.G87D|DUT_ENST00000559540.1_Missense_Mutation_p.G87D|DUT_ENST00000559416.1_Missense_Mutation_p.G90D|DUT_ENST00000559935.1_Missense_Mutation_p.G90D|DUT_ENST00000561350.1_3'UTR	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	175	Substrate binding.			G -> S (in Ref. 6; BAF84204).	DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		CCACGGTCAGGCTTGGCTGCA	0.328								Modulation of nucleotide pools					False	0	False	15:48628255	0	A	48628255	G	A	48628255	3	1	88	1	0	0	0	0	1	0	0	0	4863	1203	42	2	554	2	DUT	15	48628255	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91195	48628255	53903137	14776	22488											
FBN1	2200	broad.mit.edu	37	chr15	48703398	48703398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggttgattttaaagaagCcatcttcatttccagattcg	7	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48703398C>T	ENST00000316623.5	-	66	8860	c.8405G>A	c.(8404-8406)gGc>gAc	p.G2802D	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2802					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTAAAGAAGCCATCTTCATT	0.423													False	0	False	15:48703398	0	T	48703398	C	T	48703398	3	4	88	1	0	0	0	0	1	0	0	0	5742	739	26	2	214	2	FBN1	15	48703398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75143	48703398	53827994	14777	22489											
FBN1	2200	broad.mit.edu	37	chr15	48704816	48704816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttctccgtttcctgccccGtttggggtagccattgatct	10	13	2	1	rs61746008	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48704816G>A	ENST00000316623.5	-	65	8631	c.8176C>T	c.(8176-8178)Cgg>Tgg	p.R2726W	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2726			R -> W (in MFS; defects in protein processing).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCCTGCCCCGTTTGGGGTAG	0.517													False	0	True	15:48704816	0	A	48704816	G	A	48704816	3	1	88	1	0	0	0	0	1	0	0	0	5742	1144	40	1	447	1	FBN1	15	48704816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1418	48704816	53826576	14778	22490											
FBN1	2200	broad.mit.edu	37	chr15	48718062	48718062	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaccttgcattcatcgatatCtgtaatttaacaaatataaa	3	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48718062C>A	ENST00000316623.5	-	59	7660		c.e59-1			NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1						heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.?(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCATCGATATCTGTAATTTAA	0.313													False	0	False	15:48718062	0	A	48718062	C	A	48718062	5	1	88	1	0	0	0	0	0	0	1	0	5742	927	32	3	1443	3	FBN1	15	48718062	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13246	48718062	53813330	14779	22491											
FBN1	2200	broad.mit.edu	37	chr15	48720570	48720570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcctggttggggctggCggtaaacccatcattacact	11	12	1	0	rs148831709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48720570C>T	ENST00000316623.5	-	57	7425	c.6970G>A	c.(6970-6972)Gcc>Acc	p.A2324T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2324	EGF-like 40; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGGGGCTGGCGGTAAACCCA	0.542													False	0	False	15:48720570	0	T	48720570	C	T	48720570	3	4	88	1	0	0	0	0	1	0	0	0	5742	768	27	1	1685	1	FBN1	15	48720570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2508	48720570	53810822	14780	22492											
FBN1	2200	broad.mit.edu	37	chr15	48760266	48760266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccattgtctcctcgaggtCgaatatccaaatagcaattt	6	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48760266C>T	ENST00000316623.5	-	38	5071	c.4616G>A	c.(4615-4617)cGa>cAa	p.R1539Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1539	TB 6.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.R1539Q(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCTCGAGGTCGAATATCCAA	0.438													False	0	False	15:48760266	0	T	48760266	C	T	48760266	3	4	88	1	0	0	0	0	1	0	0	0	5742	884	31	1	4115	1	FBN1	15	48760266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39696	48760266	53771126	14781	22493											
FBN1	2200	broad.mit.edu	37	chr15	48779354	48779354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgaggttcacgcaacgGccattggggcacaggtgtgc	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779354G>A	ENST00000316623.5	-	29	3962	c.3507C>T	c.(3505-3507)ggC>ggT	p.G1169G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1169	EGF-like 18; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCACGCAACGGCCATTGGGGC	0.448													False	0	False	15:48779354	0	A	48779354	G	A	48779354	2	1	88	1	0	0	0	0	0	0	0	1	5742	1190	42	2		2	FBN1	15	48779354	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19088	48779354	53752038	14782	22494											
FBN1	2200	broad.mit.edu	37	chr15	48779509	48779509	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaagtctttctccttacCgatacacgcggagatgttgg	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779509C>T	ENST00000316623.5	-	28	3918	c.3463G>A	c.(3463-3465)Gac>Aac	p.D1155N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1155	EGF-like 18; calcium-binding.		D -> N (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCTCCTTACCGATACACGCG	0.473													False	0	False	15:48779509	0	T	48779509	C	T	48779509	5	4	88	1	0	0	0	0	0	0	1	0	5742	666	23	1	5308	1	FBN1	15	48779509	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	48779509	53751883	14783	22495											
FBN1	2200	broad.mit.edu	37	chr15	48779598	48779598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttatggcaaacaccacctCggcataggagaggatctctc	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779598C>T	ENST00000316623.5	-	28	3829	c.3374G>A	c.(3373-3375)cGa>cAa	p.R1125Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1125	EGF-like 17; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AACACCACCTCGGCATAGGAG	0.522													False	0	False	15:48779598	0	T	48779598	C	T	48779598	3	4	88	1	0	0	0	0	1	0	0	0	5742	884	31	1	5397	1	FBN1	15	48779598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89	48779598	53751794	14784	22496											
FBN1	2200	broad.mit.edu	37	chr15	48787772	48787772	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaatgcaaggacttgattcGcattcatcaatgtctgaaac	7	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48787772G>A	ENST00000316623.5	-	21	2888	c.2433C>T	c.(2431-2433)tgC>tgT	p.C811C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	811	EGF-like 13; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACTTGATTCGCATTCATCAA	0.383													False	0	False	15:48787772	0	A	48787772	G	A	48787772	2	1	88	1	0	0	0	0	0	0	0	1	5742	1079	38	1		1	FBN1	15	48787772	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8174	48787772	53743620	14785	22497											
FBN1	2200	broad.mit.edu	37	chr15	48812972	48812972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagctggttagagcagCgcccgtttgtcagagctgtg	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48812972C>T	ENST00000316623.5	-	10	1486	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	344	TB 2.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTTAGAGCAGCGCCCGTTTGT	0.517													False	0	False	15:48812972	0	T	48812972	C	T	48812972	3	4	88	1	0	0	0	0	1	0	0	0	5742	768	27	1	7812	1	FBN1	15	48812972	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25200	48812972	53718420	14786	22498											
FBN1	2200	broad.mit.edu	37	chr15	48905247	48905247	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtaaggttttccatccAgggcaacagtaagcattata	9	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48905247A>G	ENST00000316623.5	-	3	662	c.207T>C	c.(205-207)ccT>ccC	p.P69P		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	69					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTTCCATCCAGGGCAACAGT	0.383													False	0	True	15:48905247	0	G	48905247	A	G	48905247	2	3	88	1	0	0	0	0	0	0	0	1	5742	175	7	4		4	FBN1	15	48905247	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	92275	48905247	53626145	14787	22499											
CEP152	22995	broad.mit.edu	37	chr15	49030524	49030524	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaattaattttcttgaaggCtgctgacacactgaagatgg	9	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49030524C>A	ENST00000380950.2	-	27	5242	c.5055G>T	c.(5053-5055)caG>caT	p.Q1685H	CEP152_ENST00000399334.3_Missense_Mutation_p.Q1629H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1629					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCTTGAAGGCTGCTGACACA	0.373													False	0	False	15:49030524	0	A	49030524	C	A	49030524	3	1	88	1	0	0	0	0	1	0	0	0	3271	796	28	3	81	3	CEP152	15	49030524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125277	49030524	53500868	14788	22500											
CEP152	22995	broad.mit.edu	37	chr15	49054658	49054658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatagcccccttgatgGctatgtccttctcttgttct	6	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49054658G>T	ENST00000380950.2	-	18	2679	c.2492C>A	c.(2491-2493)gCc>gAc	p.A831D	CEP152_ENST00000399334.3_Missense_Mutation_p.A831D|CEP152_ENST00000325747.5_Missense_Mutation_p.A738D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	831					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCCCTTGATGGCTATGTCCTT	0.358													False	0	False	15:49054658	0	T	49054658	G	T	49054658	3	4	88	1	0	0	0	0	1	0	0	0	3271	1203	42	3	2508	3	CEP152	15	49054658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24134	49054658	53476734	14789	22501											
CEP152	22995	broad.mit.edu	37	chr15	49059316	49059316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagagtcaattctagattatCcttctctctgcacacttcta	5	11	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49059316C>T	ENST00000380950.2	-	17	2408	c.2221G>A	c.(2221-2223)Gat>Aat	p.D741N	CEP152_ENST00000399334.3_Missense_Mutation_p.D741N|CEP152_ENST00000325747.5_Missense_Mutation_p.D648N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	741					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTAGATTATCCTTCTCTCTG	0.418													False	0	False	15:49059316	0	T	49059316	C	T	49059316	3	4	88	1	0	0	0	0	1	0	0	0	3271	855	30	2	2783	2	CEP152	15	49059316	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4658	49059316	53472076	14790	22502											
CEP152	22995	broad.mit.edu	37	chr15	49064749	49064749	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcaattttcttatgacagtCtttgaggtcattttgtaact	6	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064749C>A	ENST00000380950.2	-	13	1904	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y	CEP152_ENST00000399334.3_Missense_Mutation_p.D573Y|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Missense_Mutation_p.D480Y	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	573					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTATGACAGTCTTTGAGGTCA	0.378													False	0	True	15:49064749	0	A	49064749	C	A	49064749	3	1	88	1	0	0	0	0	1	0	0	0	3271	913	32	3	3303	3	CEP152	15	49064749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5433	49064749	53466643	14791	22503											
CEP152	22995	broad.mit.edu	37	chr15	49064762	49064762	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtctttgaggtcattTtgtaactgagacaccagatg	10	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064762T>C	ENST00000380950.2	-	13	1891	c.1704A>G	c.(1702-1704)caA>caG	p.Q568Q	CEP152_ENST00000399334.3_Silent_p.Q568Q|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Silent_p.Q475Q	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	568					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGAGGTCATTTTGTAACTGAG	0.388													False	0	True	15:49064762	0	C	49064762	T	C	49064762	2	2	88	1	0	0	0	0	0	0	0	1	3271	1838	64	4		4	CEP152	15	49064762	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13	49064762	53466630	14792	22504											
CEP152	22995	broad.mit.edu	37	chr15	49064784	49064784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaactgagacaccagatgaCgcttcattgagttgctaccc	9	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064784C>T	ENST00000380950.2	-	13	1869	c.1682G>A	c.(1681-1683)cGt>cAt	p.R561H	CEP152_ENST00000399334.3_Missense_Mutation_p.R561H|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Missense_Mutation_p.R468H	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	561					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CACCAGATGACGCTTCATTGA	0.398													False	0	False	15:49064784	0	T	49064784	C	T	49064784	3	4	88	1	0	0	0	0	1	0	0	0	3271	536	19	1	3338	1	CEP152	15	49064784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	49064784	53466608	14793	22505											
CEP152	22995	broad.mit.edu	37	chr15	49081138	49081138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgattcagaatgatgaaggtCcaccagctgctgcttcaagc	10	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49081138C>T	ENST00000380950.2	-	9	1220	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	CEP152_ENST00000399334.3_Missense_Mutation_p.D345N|CEP152_ENST00000325747.5_Missense_Mutation_p.D252N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	345					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGATGAAGGTCCACCAGCTGC	0.408													False	0	False	15:49081138	0	T	49081138	C	T	49081138	3	4	88	1	0	0	0	0	1	0	0	0	3271	855	30	2	4003	2	CEP152	15	49081138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16354	49081138	53450254	14794	22506											
CEP152	22995	broad.mit.edu	37	chr15	49089912	49089912	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagctcatctccaattgCtcaggatgatgtggtctcga	9	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49089912C>T	ENST00000380950.2	-	4	394	c.207G>A	c.(205-207)gaG>gaA	p.E69E	CEP152_ENST00000399334.3_Silent_p.E69E|CEP152_ENST00000325747.5_Silent_p.E69E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	69					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.E69E(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTCCAATTGCTCAGGATGAT	0.388													False	0	False	15:49089912	0	T	49089912	C	T	49089912	2	4	88	1	0	0	0	0	0	0	0	1	3271	796	28	2		2	CEP152	15	49089912	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8774	49089912	53441480	14795	22507											
SHC4	399694	broad.mit.edu	37	chr15	49135605	49135605	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagtgagtagctacttaCttccgcagtgccatgggctc	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49135605C>T	ENST00000332408.4	-	10	1912		c.e10+1		SHC4_ENST00000396535.3_Splice_Site|SHC4_ENST00000537958.1_Splice_Site	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TAGCTACTTACTTCCGCAGTG	0.458													False	0	True	15:49135605	0	T	49135605	C	T	49135605	5	4	88	1	0	0	0	0	0	0	1	0	14354	579	20	2	420	2	SHC4	15	49135605	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45693	49135605	53395787	14796	22508											
SECISBP2L	9728	broad.mit.edu	37	chr15	49288703	49288703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaaggcttcctcagcctgCtcctgttccattgctgcaac	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49288703C>A	ENST00000559471.1	-	17	2747	c.2484G>T	c.(2482-2484)gaG>gaT	p.E828D	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E783D	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	828										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CCTCAGCCTGCTCCTGTTCCA	0.428													False	0	False	15:49288703	0	A	49288703	C	A	49288703	3	1	88	1	0	0	0	0	1	0	0	0	14088	796	28	3	829	3	SECISBP2L	15	49288703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153098	49288703	53242689	14797	22509											
SECISBP2L	9728	broad.mit.edu	37	chr15	49308835	49308835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttccagagcagctaacaTgtcccctaaatctagctgca	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49308835T>C	ENST00000559471.1	-	11	1746	c.1483A>G	c.(1483-1485)Atg>Gtg	p.M495V	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M450V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	495										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GCAGCTAACATGTCCCCTAAA	0.343													False	0	False	15:49308835	0	C	49308835	T	C	49308835	3	2	88	1	0	0	0	0	1	0	0	0	14088	1464	51	4	1854	4	SECISBP2L	15	49308835	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20132	49308835	53222557	14798	22510											
SECISBP2L	9728	broad.mit.edu	37	chr15	49320695	49320695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaagcccctgctgcaggCtggttgttgctgtgtttggg	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49320695C>T	ENST00000559471.1	-	5	1112	c.849G>A	c.(847-849)caG>caA	p.Q283Q	SECISBP2L_ENST00000261847.3_Silent_p.Q283Q	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	283										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGCTGCAGGCTGGTTGTTGC	0.448													False	0	False	15:49320695	0	T	49320695	C	T	49320695	2	4	88	1	0	0	0	0	0	0	0	1	14088	796	28	2		2	SECISBP2L	15	49320695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11860	49320695	53210697	14799	22511											
COPS2	9318	broad.mit.edu	37	chr15	49431799	49431799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcttgtgactgcactccGaatataggtcaatagctgct	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49431799G>A	ENST00000388901.5	-	4	371	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	COPS2_ENST00000299259.6_Missense_Mutation_p.R100W|COPS2_ENST00000542928.1_Missense_Mutation_p.R36W	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	100					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ACTGCACTCCGAATATAGGTC	0.313													False	0	False	15:49431799	0	A	49431799	G	A	49431799	3	1	88	1	0	0	0	0	1	0	0	0	3756	1057	37	1	1094	1	COPS2	15	49431799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111104	49431799	53099593	14800	22512											
ATP8B4	79895	broad.mit.edu	37	chr15	50209130	50209130	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctccttccttcaacacctaCctgagttcttctctcacttc	2	18	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50209130C>A	ENST00000284509.6	-	20	2283		c.e20+1		ATP8B4_ENST00000559829.1_Splice_Site	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4						ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		tcAACACCTACCTGAGTTCTT	0.453													False	0	True	15:50209130	0	A	50209130	C	A	50209130	5	1	88	1	0	0	0	0	0	0	1	0	1201	521	18	3	1472	3	ATP8B4	15	50209130	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	777331	50209130	52322262	14801	22513											
ATP8B4	79895	broad.mit.edu	37	chr15	50339654	50339654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatttcgatgtgtggataCgattatcctggaaaagaaat	9	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50339654C>T	ENST00000284509.6	-	4	236	c.95G>A	c.(94-96)cGt>cAt	p.R32H	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R32H	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	32					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGTGTGGATACGATTATCCTG	0.373													False	0	False	15:50339654	0	T	50339654	C	T	50339654	3	4	88	1	0	0	0	0	1	0	0	0	1201	536	19	1	3583	1	ATP8B4	15	50339654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130524	50339654	52191738	14802	22514											
HDC	3067	broad.mit.edu	37	chr15	50534865	50534865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggaccggctcccacacgCtgaggctgcttgatgatctt	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50534865C>T	ENST00000267845.3	-	12	1983	c.1581G>A	c.(1579-1581)caG>caA	p.Q527Q	HDC_ENST00000543581.1_Silent_p.Q494Q	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	527					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTCCCACACGCTGAGGCTGCT	0.577													False	0	False	15:50534865	0	T	50534865	C	T	50534865	2	4	88	1	0	0	0	0	0	0	0	1	7062	796	28	2		2	HDC	15	50534865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195211	50534865	51996527	14803	22515											
HDC	3067	broad.mit.edu	37	chr15	50546817	50546817	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atttccaggattttgttcttCcttgctgccagcagggcaat	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50546817C>T	ENST00000267845.3	-	5	888	c.486G>A	c.(484-486)agG>agA	p.R162R	HDC_ENST00000543581.1_Silent_p.R162R	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	162					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TTTTGTTCTTCCTTGCTGCCA	0.507													False	0	False	15:50546817	0	T	50546817	C	T	50546817	2	4	88	1	0	0	0	0	0	0	0	1	7062	854	30	2		2	HDC	15	50546817	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11952	50546817	51984575	14804	22516											
GABPB1	2553	broad.mit.edu	37	chr15	50592987	50592987	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagactcgtttttctaaccTggagtttctgaagaattgga	9	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50592987T>C	ENST00000380877.3	-	6	1119	c.696A>G	c.(694-696)ccA>ccG	p.P232P	GABPB1_ENST00000560825.1_Splice_Site_p.P232P|GABPB1_ENST00000543881.1_Splice_Site_p.P168P|GABPB1_ENST00000359031.4_Splice_Site_p.P232P|GABPB1_ENST00000220429.8_Splice_Site_p.P244P|GABPB1_ENST00000396464.3_Splice_Site_p.P232P|GABPB1_ENST00000429662.2_Splice_Site_p.P244P	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	244					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TTTTCTAACCTGGAGTTTCTG	0.453													False	0	False	15:50592987	0	C	50592987	T	C	50592987	5	2	88	1	0	0	0	0	0	0	1	0	6200	1594	55	4	519	4	GABPB1	15	50592987	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46170	50592987	51938405	14805	22517											
USP8	9101	broad.mit.edu	37	chr15	50782713	50782713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaactccaacagttaatcGggaaaacaagtatgtttatc	7	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50782713G>A	ENST00000433963.1	+	15	2725	c.2225G>A	c.(2224-2226)cGg>cAg	p.R742Q	USP8_ENST00000425032.3_Missense_Mutation_p.R636Q|USP8_ENST00000396444.3_Missense_Mutation_p.R742Q|USP8_ENST00000307179.4_Missense_Mutation_p.R742Q			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	742					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ACAGTTAATCGGGAAAACAAG	0.403													False	0	True	15:50782713	0	A	50782713	G	A	50782713	3	1	88	1	0	0	0	0	1	0	0	0	17173	1116	39	1	2275	1	USP8	15	50782713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189726	50782713	51748679	14806	22518											
USP8	9101	broad.mit.edu	37	chr15	50786282	50786282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtcaaatttgttgggGcataaaggtgaagtggcaga	14	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50786282G>A	ENST00000433963.1	+	17	2963	c.2463G>A	c.(2461-2463)ggG>ggA	p.G821G	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Silent_p.G715G|USP8_ENST00000396444.3_Silent_p.G821G|USP8_ENST00000307179.4_Silent_p.G821G			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	821					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATTTGTTGGGGCATAAAGGTG	0.348													False	0	True	15:50786282	0	A	50786282	G	A	50786282	2	1	88	1	0	0	0	0	0	0	0	1	17173	1190	42	2		2	USP8	15	50786282	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3569	50786282	51745110	14807	22519											
USP8	9101	broad.mit.edu	37	chr15	50788095	50788095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataatgatcatctcgatgaCtttaaagctgcagaacatgc	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50788095C>T	ENST00000433963.1	+	18	3209	c.2709C>T	c.(2707-2709)gaC>gaT	p.D903D	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Silent_p.D797D|USP8_ENST00000396444.3_Silent_p.D903D|USP8_ENST00000307179.4_Silent_p.D903D			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	903					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATCTCGATGACTTTAAAGCTG	0.343													False	0	True	15:50788095	0	T	50788095	C	T	50788095	2	4	88	1	0	0	0	0	0	0	0	1	17173	564	20	2		2	USP8	15	50788095	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1813	50788095	51743297	14808	22520											
USP50	373509	broad.mit.edu	37	chr15	50822088	50822088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgggtaatgaatatccGttctcagcttcctttttgtt	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50822088G>A	ENST00000532404.1	-	6	1015	c.842C>T	c.(841-843)aCg>aTg	p.T281M	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN	ubiquitin specific peptidase 50	281					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		ATGAATATCCGTTCTCAGCTT	0.388													False	0	False	15:50822088	0	A	50822088	G	A	50822088	3	1	88	1	0	0	0	0	1	0	0	0	17166	1145	40	1	170	1	USP50	15	50822088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33993	50822088	51709304	14809	22521											
TRPM7	54822	broad.mit.edu	37	chr15	50901842	50901842	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaactttcgcgtaattggaAgcttttttgatttcatttgt	7	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50901842A>C	ENST00000313478.7	-	19	2797	c.2516T>G	c.(2515-2517)cTt>cGt	p.L839R	TRPM7_ENST00000560955.1_Missense_Mutation_p.L839R	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	839					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CGTAATTGGAAGCTTTTTTGA	0.274													False	0	False	15:50901842	0	C	50901842	A	C	50901842	3	2	88	1	0	0	0	0	1	0	0	0	16674	72	3	4	3165	4	TRPM7	15	50901842	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	79754	50901842	51629550	14810	22522											
TRPM7	54822	broad.mit.edu	37	chr15	50911964	50911964	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttgacgtctcgaacaagaTgaaacagcattggattagtt	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50911964T>G	ENST00000313478.7	-	13	1753	c.1472A>C	c.(1471-1473)cAt>cCt	p.H491P	TRPM7_ENST00000560955.1_Missense_Mutation_p.H491P	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	491					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCGAACAAGATGAAACAGCAT	0.254													False	0	False	15:50911964	0	G	50911964	T	G	50911964	3	3	88	1	0	0	0	0	1	0	0	0	16674	1464	51	4	4233	4	TRPM7	15	50911964	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10122	50911964	51619428	14811	22523											
AP4E1	23431	broad.mit.edu	37	chr15	51207651	51207651	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attttgcttttcagaaaatgAtgaaggaatgtatggtgaga	11	2	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51207651A>T	ENST00000261842.5	+	3	335	c.229A>T	c.(229-231)Atg>Ttg	p.M77L	AP4E1_ENST00000560508.1_Missense_Mutation_p.M2L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	77					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCAGAAAATGATGAAGGAATG	0.303													False	0	False	15:51207651	0	T	51207651	A	T	51207651	3	4	88	1	0	0	0	0	1	0	0	0	754	333	12	5	239	5	AP4E1	15	51207651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	295687	51207651	51323741	14812	22524											
AP4E1	23431	broad.mit.edu	37	chr15	51223034	51223034	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggatataaagacttgactggGagttttgtaaccattttgaa	10	4	0	3	rs146147470	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51223034G>A	ENST00000261842.5	+	7	841	c.735G>A	c.(733-735)ggG>ggA	p.G245G	AP4E1_ENST00000560508.1_Silent_p.G170G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	245					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACTTGACTGGGAGTTTTGTAA	0.368													False	0	True	15:51223034	0	A	51223034	G	A	51223034	2	1	88	1	0	0	0	0	0	0	0	1	754	1161	41	2		2	AP4E1	15	51223034	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15383	51223034	51308358	14813	22525											
AP4E1	23431	broad.mit.edu	37	chr15	51289963	51289963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataatgaaactatatcagtGtcttcttataaaatttggaa	5	4	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51289963G>A	ENST00000261842.5	+	18	2893	c.2787G>A	c.(2785-2787)gtG>gtA	p.V929V	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.V854V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	929					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTATATCAGTGTCTTCTTATA	0.323													False	0	False	15:51289963	0	A	51289963	G	A	51289963	2	1	88	1	0	0	0	0	0	0	0	1	754	1364	48	2		2	AP4E1	15	51289963	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66929	51289963	51241429	14814	22526											
AP4E1	23431	broad.mit.edu	37	chr15	51293263	51293263	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgactttgggaaactctggTtatccttcgcaaatgatgtg	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51293263T>C	ENST00000261842.5	+	20	3242	c.3136T>C	c.(3136-3138)Tta>Cta	p.L1046L	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Silent_p.L971L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1046					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GAAACTCTGGTTATCCTTCGC	0.328													False	0	False	15:51293263	0	C	51293263	T	C	51293263	2	2	88	1	0	0	0	0	0	0	0	1	754	1722	60	4		4	AP4E1	15	51293263	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3300	51293263	51238129	14815	22527											
AP4E1	23431	broad.mit.edu	37	chr15	51293373	51293373	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctaagactccatattattgaGattataggtttgtagagtta	8	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51293373G>T	ENST00000261842.5	+	20	3352	c.3246G>T	c.(3244-3246)gaG>gaT	p.E1082D	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.E1007D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1082					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ATATTATTGAGATTATAGGTT	0.328													False	0	False	15:51293373	0	T	51293373	G	T	51293373	3	4	88	1	0	0	0	0	1	0	0	0	754	933	33	3	3324	3	AP4E1	15	51293373	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110	51293373	51238019	14816	22528											
TNFAIP8L3	388121	broad.mit.edu	37	chr15	51350473	51350473	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctttcatgatcttgtgggCttccttcttgttgtgtgtgt	11	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51350473C>A	ENST00000327536.5	-	3	583	c.484G>T	c.(484-486)Gcc>Tcc	p.A162S	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	162										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ATCTTGTGGGCTTCCTTCTTG	0.458													False	0	True	15:51350473	0	A	51350473	C	A	51350473	3	1	88	1	0	0	0	0	1	0	0	0	16361	797	28	3	398	3	TNFAIP8L3	15	51350473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57100	51350473	51180919	14817	22529											
CYP19A1	0	broad.mit.edu	37	chr15	51529135	51529135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggttgtagtagttgcaggCactgccgatccccatccaca	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51529135C>T	ENST00000396402.1	-	3	370	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	CYP19A1_ENST00000557858.1_Missense_Mutation_p.A73T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.A73T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.A73T|CYP19A1_ENST00000405913.3_Missense_Mutation_p.A73T|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A73T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	73					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TAGTTGCAGGCACTGCCGATC	0.502													False	0	False	15:51529135	0	T	51529135	C	T	51529135	3	4	88	1	0	0	0	0	1	0	0	0	4173	710	25	2	1326	2	CYP19A1	15	51529135	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178662	51529135	51002257	14818	22530											
GLDN	342035	broad.mit.edu	37	chr15	51693790	51693790	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcttccctcctacagGcatcatggttaaggaattca	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51693790G>T	ENST00000335449.6	+	9	1084	c.1028G>T	c.(1027-1029)gGc>gTc	p.G343V	GLDN_ENST00000396399.2_Splice_Site_p.G219V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	343	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CCTCCTACAGGCATCATGGTT	0.507											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	15:51693790	0	T	51693790	G	T	51693790	5	4	88	1	0	0	0	0	0	0	1	0	6479	1217	42	3	1062	3	GLDN	15	51693790	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164655	51693790	50837602	14819	22531											
GLDN	342035	broad.mit.edu	37	chr15	51696637	51696637	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgtggacggctcgagcattCttgtagcacaactggatgag	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51696637C>A	ENST00000335449.6	+	10	1398	c.1342C>A	c.(1342-1344)Ctt>Att	p.L448I	GLDN_ENST00000396399.2_Missense_Mutation_p.L324I	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	448	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CTCGAGCATTCTTGTAGCACA	0.448													False	0	False	15:51696637	0	A	51696637	C	A	51696637	3	1	88	1	0	0	0	0	1	0	0	0	6479	913	32	3	1380	3	GLDN	15	51696637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2847	51696637	50834755	14820	22532											
DMXL2	23312	broad.mit.edu	37	chr15	51750948	51750948	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atcatatcagattccttatgGatgactttcgcctttccacc	5	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51750948G>T	ENST00000251076.5	-	34	8255	c.7968C>A	c.(7966-7968)atC>atA	p.I2656I	DMXL2_ENST00000543779.2_Silent_p.I2657I|RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.I2020I|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2656						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTCCTTATGGATGACTTTCG	0.373													False	0	False	15:51750948	0	T	51750948	G	T	51750948	2	4	88	1	0	0	0	0	0	0	0	1	4625	1164	41	3		3	DMXL2	15	51750948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54311	51750948	50780444	14821	22533											
DMXL2	23312	broad.mit.edu	37	chr15	51772901	51772901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgctctcgtttggcctgCaatcttcttctttctatttg	7	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51772901C>T	ENST00000251076.5	-	24	6689	c.6402G>A	c.(6400-6402)ttG>ttA	p.L2134L	DMXL2_ENST00000543779.2_Silent_p.L2134L|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.L1498L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2134						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTTGGCCTGCAATCTTCTTC	0.448													False	0	False	15:51772901	0	T	51772901	C	T	51772901	2	4	88	1	0	0	0	0	0	0	0	1	4625	709	25	2		2	DMXL2	15	51772901	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21953	51772901	50758491	14822	22534											
DMXL2	23312	broad.mit.edu	37	chr15	51791720	51791720	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagataccaagtctatagatCtaagaagaacccatcttgac	6	9	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51791720C>T	ENST00000251076.5	-	18	3988	c.3701G>A	c.(3700-3702)aGa>aAa	p.R1234K	DMXL2_ENST00000543779.2_Missense_Mutation_p.R1234K|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1234						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTCTATAGATCTAAGAAGAAC	0.428													False	0	False	15:51791720	0	T	51791720	C	T	51791720	3	4	88	1	0	0	0	0	1	0	0	0	4625	913	32	2	5516	2	DMXL2	15	51791720	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18819	51791720	50739672	14823	22535											
DMXL2	23312	broad.mit.edu	37	chr15	51860756	51860756	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttaccatatgaagctgcaatCtaaaaaagaataaatacagc	5	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51860756C>A	ENST00000251076.5	-	3	501		c.e3-1		DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000560421.1_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGCTGCAATCTAAAAAAGAA	0.249													False	0	False	15:51860756	0	A	51860756	C	A	51860756	5	1	88	1	0	0	0	0	0	0	1	0	4625	927	32	3	9064	3	DMXL2	15	51860756	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69036	51860756	50670636	14824	22536											
SCG3	29106	broad.mit.edu	37	chr15	51975574	51975574	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgttgattcaaccaagaatCgaaaactgatcgatgattat	7	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51975574C>T	ENST00000220478.3	+	4	743	c.340C>T	c.(340-342)Cga>Tga	p.R114*	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	114					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACCAAGAATCGAAAACTGAT	0.318													False	0	False	15:51975574	0	T	51975574	C	T	51975574	4	4	88	1	0	0	0	0	0	1	0	0	13972	876	31	1	354	1	SCG3	15	51975574	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114818	51975574	50555818	14825	22537											
TMOD2	29767	broad.mit.edu	37	chr15	52058709	52058709	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatgagcttcttggcaaacTctcagaagaggaactgaaac	10	8	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52058709T>G	ENST00000249700.4	+	2	292	c.71T>G	c.(70-72)cTc>cGc	p.L24R	TMOD2_ENST00000435126.2_Missense_Mutation_p.L24R|TMOD2_ENST00000539962.2_5'UTR	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	24					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		CTTGGCAAACTCTCAGAAGAG	0.418													False	0	False	15:52058709	0	G	52058709	T	G	52058709	3	3	88	1	0	0	0	0	1	0	0	0	16316	1551	54	4	73	4	TMOD2	15	52058709	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	83135	52058709	50472683	14826	22538											
MAPK6	5597	broad.mit.edu	37	chr15	52338703	52338703	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaacattcatggttttgatCtgggttctaggtatatggac	11	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52338703C>T	ENST00000261845.5	+	2	853	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	16					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TGGTTTTGATCTGGGTTCTAG	0.378													False	0	False	15:52338703	0	T	52338703	C	T	52338703	2	4	88	1	0	0	0	0	0	0	0	1	9348	912	32	2		2	MAPK6	15	52338703	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279994	52338703	50192689	14827	22539											
MAPK6	5597	broad.mit.edu	37	chr15	52338767	52338767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatggcttggttttttctgCtgtagacaatgactgtgaca	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52338767C>T	ENST00000261845.5	+	2	917	c.110C>T	c.(109-111)gCt>gTt	p.A37V		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	37	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GTTTTTTCTGCTGTAGACAAT	0.378													False	0	False	15:52338767	0	T	52338767	C	T	52338767	3	4	88	1	0	0	0	0	1	0	0	0	9348	797	28	2	112	2	MAPK6	15	52338767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64	52338767	50192625	14828	22540											
GNB5	0	broad.mit.edu	37	chr15	52425618	52425618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgtttcaaaggcctgcaCgcactggccggagcgcatgt	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52425618C>T	ENST00000261837.7	-	9	885	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	GNB5_ENST00000396335.4_Missense_Mutation_p.V162M|GNB5_ENST00000358784.7_Missense_Mutation_p.V232M|GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.7_ENST00000557898.1_RNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	274						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		AAGGCCTGCACGCACTGGCCG	0.493													False	0	True	15:52425618	0	T	52425618	C	T	52425618	3	4	88	1	0	0	0	0	1	0	0	0	6566	536	19	1	387	1	GNB5	15	52425618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86851	52425618	50105774	14829	22541											
MYO5C	55930	broad.mit.edu	37	chr15	52513390	52513390	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagcttgttcattcaggcgGatttcaagatcttgcttctg	9	9	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52513390G>A	ENST00000261839.7	-	30	3851	c.3690C>T	c.(3688-3690)atC>atT	p.I1230I		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1230						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATTCAGGCGGATTTCAAGAT	0.348													False	0	False	15:52513390	0	A	52513390	G	A	52513390	2	1	88	1	0	0	0	0	0	0	0	1	10147	1164	41	2		2	MYO5C	15	52513390	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87772	52513390	50018002	14830	22542											
MYO5C	55930	broad.mit.edu	37	chr15	52539194	52539194	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgagggtctccatgagcaaGtacagagagctgcggaacta	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52539194G>T	ENST00000261839.7	-	16	2060	c.1899C>A	c.(1897-1899)taC>taA	p.Y633*	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	633	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCATGAGCAAGTACAGAGAGC	0.443													False	0	False	15:52539194	0	T	52539194	G	T	52539194	4	4	88	1	0	0	0	0	0	1	0	0	10147	1024	36	3	3433	3	MYO5C	15	52539194	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25804	52539194	49992198	14831	22543											
MYO5A	4644	broad.mit.edu	37	chr15	52656853	52656853	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctttcatcattaaggtcGagttccagttgtttcgtttc	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52656853G>A	ENST00000399231.3	-	24	3450	c.3207C>T	c.(3205-3207)ctC>ctT	p.L1069L	MYO5A_ENST00000553916.1_Silent_p.L1069L|MYO5A_ENST00000356338.6_Silent_p.L1069L|MYO5A_ENST00000399233.2_Silent_p.L1069L|MYO5A_ENST00000358212.6_Silent_p.L1069L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1069					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CATTAAGGTCGAGTTCCAGTT	0.388													False	0	False	15:52656853	0	A	52656853	G	A	52656853	2	1	88	1	0	0	0	0	0	0	0	1	10145	1045	37	1		1	MYO5A	15	52656853	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117659	52656853	49874539	14832	22544											
WDR72	256764	broad.mit.edu	37	chr15	53815426	53815426	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctttcacctggactctcaGactcttccaaggcacatctg	8	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53815426G>A	ENST00000396328.1	-	19	3481	c.3242C>T	c.(3241-3243)tCt>tTt	p.S1081F	WDR72_ENST00000559418.1_Missense_Mutation_p.S1091F|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000360509.5_Missense_Mutation_p.S1081F|WDR72_ENST00000557913.1_Missense_Mutation_p.S1078F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1081										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGGACTCTCAGACTCTTCCAA	0.468													False	0	False	15:53815426	0	A	53815426	G	A	53815426	3	1	88	1	0	0	0	0	1	0	0	0	17406	942	33	2	74	2	WDR72	15	53815426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1158573	53815426	48715966	14833	22545											
WDR72	256764	broad.mit.edu	37	chr15	53889435	53889435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcttcatgtgttgttgaaCttccgccaagagaacagctt	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53889435C>T	ENST00000396328.1	-	18	3228	c.2989G>A	c.(2989-2991)Gtt>Att	p.V997I	WDR72_ENST00000559418.1_Missense_Mutation_p.V1007I|WDR72_ENST00000360509.5_Missense_Mutation_p.V997I|WDR72_ENST00000557913.1_Missense_Mutation_p.V994I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	997										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTTGTTGAACTTCCGCCAAG	0.383													False	0	False	15:53889435	0	T	53889435	C	T	53889435	3	4	88	1	0	0	0	0	1	0	0	0	17406	565	20	2	331	2	WDR72	15	53889435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74009	53889435	48641957	14834	22546											
WDR72	256764	broad.mit.edu	37	chr15	53908400	53908400	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccattttgtcttcacaggcAagacattaaaaggtcttggg	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53908400A>G	ENST00000396328.1	-	15	2242	c.2003T>C	c.(2002-2004)tTg>tCg	p.L668S	WDR72_ENST00000559418.1_Missense_Mutation_p.L678S|WDR72_ENST00000360509.5_Missense_Mutation_p.L668S|WDR72_ENST00000557913.1_Missense_Mutation_p.L665S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	668										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTCACAGGCAAGACATTAAA	0.343													False	0	False	15:53908400	0	G	53908400	A	G	53908400	3	3	88	1	0	0	0	0	1	0	0	0	17406	131	5	4	1329	4	WDR72	15	53908400	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18965	53908400	48622992	14835	22547											
UNC13C	440279	broad.mit.edu	37	chr15	54306705	54306705	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatgcaacacctctctgGcactcacagagtgatttttt	8	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54306705G>A	ENST00000545554.1	+	1	1605	c.1605G>A	c.(1603-1605)tgG>tgA	p.W535*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.W535*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.W535*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	535					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CACCTCTCTGGCACTCACAGA	0.363													False	0	False	15:54306705	0	A	54306705	G	A	54306705	4	1	88	1	0	0	0	0	0	1	0	0	17070	1212	42	2	1607	2	UNC13C	15	54306705	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	398305	54306705	48224687	14836	22548											
UNC13C	440279	broad.mit.edu	37	chr15	54307992	54307992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccagtggagatcacaaaGccaaagagaattcgtccttc	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54307992G>T	ENST00000545554.1	+	1	2892	c.2892G>T	c.(2890-2892)aaG>aaT	p.K964N	UNC13C_ENST00000537900.1_Missense_Mutation_p.K964N|UNC13C_ENST00000260323.11_Missense_Mutation_p.K964N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	964					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGATCACAAAGCCAAAGAGAA	0.413													False	0	True	15:54307992	0	T	54307992	G	T	54307992	3	4	88	1	0	0	0	0	1	0	0	0	17070	962	34	3	2894	3	UNC13C	15	54307992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1287	54307992	48223400	14837	22549											
UNC13C	440279	broad.mit.edu	37	chr15	54527296	54527296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaactttgcctattgTccgagatgtggtaagttaca	8	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54527296T>C	ENST00000545554.1	+	4	3140	c.3140T>C	c.(3139-3141)gTc>gCc	p.V1047A	UNC13C_ENST00000537900.1_Missense_Mutation_p.V1047A|UNC13C_ENST00000260323.11_Missense_Mutation_p.V1047A			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1047					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGCCTATTGTCCGAGATGTG	0.378													False	0	False	15:54527296	0	C	54527296	T	C	54527296	3	2	88	1	0	0	0	0	1	0	0	0	17070	1667	58	4	3154	4	UNC13C	15	54527296	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	219304	54527296	48004096	14838	22550											
UNC13C	440279	broad.mit.edu	37	chr15	54556523	54556523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaaagaagattttgtgcaGtttacaaaggcggccaaaca	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54556523G>A	ENST00000545554.1	+	8	3606	c.3606G>A	c.(3604-3606)caG>caA	p.Q1202Q	UNC13C_ENST00000537900.1_Silent_p.Q1200Q|UNC13C_ENST00000260323.11_Silent_p.Q1202Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1202					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATTTTGTGCAGTTTACAAAGG	0.358													False	0	True	15:54556523	0	A	54556523	G	A	54556523	2	1	88	1	0	0	0	0	0	0	0	1	17070	1020	36	2		2	UNC13C	15	54556523	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29227	54556523	47974869	14839	22551											
UNC13C	440279	broad.mit.edu	37	chr15	54586236	54586236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaagtgaggaccttgagtgGagaaatggatgtctggtaca	15	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54586236G>A	ENST00000545554.1	+	10	3962	c.3962G>A	c.(3961-3963)gGa>gAa	p.G1321E	UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319E|UNC13C_ENST00000260323.11_Missense_Mutation_p.G1321E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1321					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACCTTGAGTGGAGAAATGGAT	0.353													False	0	False	15:54586236	0	A	54586236	G	A	54586236	3	1	88	1	0	0	0	0	1	0	0	0	17070	1174	41	2	3996	2	UNC13C	15	54586236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29713	54586236	47945156	14840	22552											
UNC13C	440279	broad.mit.edu	37	chr15	54626001	54626001	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaatactgaaagactgcaaGacctgaaatcaactgttgac	8	9	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54626001G>A	ENST00000545554.1	+	15	4531	c.4531G>A	c.(4531-4533)Gac>Aac	p.D1511N	UNC13C_ENST00000537900.1_Missense_Mutation_p.D1509N|UNC13C_ENST00000260323.11_Missense_Mutation_p.D1511N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1511					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGACTGCAAGACCTGAAATC	0.348													False	0	False	15:54626001	0	A	54626001	G	A	54626001	3	1	88	1	0	0	0	0	1	0	0	0	17070	942	33	2	4585	2	UNC13C	15	54626001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39765	54626001	47905391	14841	22553											
UNC13C	440279	broad.mit.edu	37	chr15	54825191	54825191	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagagcaaatggaaacaccAcatctaataagaacagtgca	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54825191A>C	ENST00000545554.1	+	25	5623	c.5623A>C	c.(5623-5625)Aca>Cca	p.T1875P	UNC13C_ENST00000537900.1_Missense_Mutation_p.T1873P|UNC13C_ENST00000260323.11_Missense_Mutation_p.T1875P			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1875					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGAAACACCACATCTAATAA	0.313													False	0	False	15:54825191	0	C	54825191	A	C	54825191	3	2	88	1	0	0	0	0	1	0	0	0	17070	159	6	4	5717	4	UNC13C	15	54825191	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	199190	54825191	47706201	14842	22554											
RSL24D1	51187	broad.mit.edu	37	chr15	55483181	55483181	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgacttactagttttaTtccatagctctcgctggtat	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55483181T>A	ENST00000260443.4	-	3	436	c.260A>T	c.(259-261)aAt>aTt	p.N87I		NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	87					ribosome biogenesis|translation	nucleolus|ribosome	structural constituent of ribosome			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						ACTAGTTTTATTCCATAGCTC	0.313													False	0	False	15:55483181	0	A	55483181	T	A	55483181	3	1	88	1	0	0	0	0	1	0	0	0	13780	1493	52	5	247	5	RSL24D1	15	55483181	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	657990	55483181	47048211	14843	22555											
RAB27A	5873	broad.mit.edu	37	chr15	55516100	55516100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcacccatatttctctgCgagtgctatggcttcctcct	6	14	2	0	rs104894499		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55516100C>T	ENST00000396307.2	-	5	705	c.454G>A	c.(454-456)Gca>Aca	p.A152T	RAB27A_ENST00000564609.1_Missense_Mutation_p.A152T|RAB27A_ENST00000336787.1_Missense_Mutation_p.A152T|RAB27A_ENST00000569493.1_Missense_Mutation_p.A152T	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	152			A -> P (in GS2; may affect GTP binding; interferes with melanosome transport).		small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TATTTCTCTGCGAGTGCTATG	0.393													False	0	False	15:55516100	0	T	55516100	C	T	55516100	3	4	88	1	0	0	0	0	1	0	0	0	12993	768	27	1	219	1	RAB27A	15	55516100	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32919	55516100	47015292	14844	22556											
PIGB	9488	broad.mit.edu	37	chr15	55613553	55613553	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgcaagcatttacaagattCttcatcttttagggaaagat	7	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55613553C>A	ENST00000164305.5	+	3	673	c.382C>A	c.(382-384)Ctt>Att	p.L128I	PIGB_ENST00000539642.1_Intron	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	128					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TTACAAGATTCTTCATCTTTT	0.338													False	0	False	15:55613553	0	A	55613553	C	A	55613553	3	1	88	1	0	0	0	0	1	0	0	0	11954	913	32	3	392	3	PIGB	15	55613553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97453	55613553	46917839	14845	22557											
PRTG	283659	broad.mit.edu	37	chr15	55912364	55912364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaaagggtcttgagaagCtggttgtctgacctggggag	15	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55912364C>T	ENST00000389286.4	-	20	3346	c.3299G>A	c.(3298-3300)aGc>aAc	p.S1100N		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1100					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCTTGAGAAGCTGGTTGTCTG	0.498													False	0	False	15:55912364	0	T	55912364	C	T	55912364	3	4	88	1	0	0	0	0	1	0	0	0	12714	797	28	2	157	2	PRTG	15	55912364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298811	55912364	46619028	14846	22558											
PRTG	283659	broad.mit.edu	37	chr15	55964693	55964693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtatccaagaaaatgggcCcattctcctgctgcccttct	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55964693C>A	ENST00000389286.4	-	11	2038	c.1991G>T	c.(1990-1992)gGg>gTg	p.G664V		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	664	Fibronectin type-III 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GAAAATGGGCCCATTCTCCTG	0.463													False	0	True	15:55964693	0	A	55964693	C	A	55964693	3	1	88	1	0	0	0	0	1	0	0	0	12714	623	22	3	1501	3	PRTG	15	55964693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52329	55964693	46566699	14847	22559											
PRTG	283659	broad.mit.edu	37	chr15	55964735	55964735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtagtacagcttgtagCcctgaatagcagctgtgtcc	10	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55964735C>T	ENST00000389286.4	-	11	1996	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	650	Fibronectin type-III 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CAGCTTGTAGCCCTGAATAGC	0.498													False	0	True	15:55964735	0	T	55964735	C	T	55964735	3	4	88	1	0	0	0	0	1	0	0	0	12714	739	26	2	1543	2	PRTG	15	55964735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	55964735	46566657	14848	22560											
PRTG	283659	broad.mit.edu	37	chr15	55965763	55965763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttaggcggaaagacaagCgatacagcaccacttggccc	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55965763C>T	ENST00000389286.4	-	10	1705	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	553	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GAAAGACAAGCGATACAGCAC	0.512													False	0	False	15:55965763	0	T	55965763	C	T	55965763	3	4	88	1	0	0	0	0	1	0	0	0	12714	768	27	1	1838	1	PRTG	15	55965763	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1028	55965763	46565629	14849	22561											
PRTG	283659	broad.mit.edu	37	chr15	55972411	55972411	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacatcaatggatttgtgatCtatttcaaagagaatacttc	7	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55972411C>A	ENST00000389286.4	-	6	862		c.e6-1			NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin						multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GATTTGTGATCTATTTCAAAG	0.323													False	0	False	15:55972411	0	A	55972411	C	A	55972411	5	1	88	1	0	0	0	0	0	0	1	0	12714	927	32	3	2698	3	PRTG	15	55972411	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6648	55972411	46558981	14850	22562											
NEDD4	4734	broad.mit.edu	37	chr15	56132913	56132913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttggatttatctgtagGgtataattgtccctgtaaag	11	4	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56132913G>A	ENST00000508342.1	-	16	3407	c.3108C>T	c.(3106-3108)acC>acT	p.T1036T	NEDD4_ENST00000338963.2_Silent_p.T964T|NEDD4_ENST00000435532.3_Silent_p.T617T|NEDD4_ENST00000506154.1_Silent_p.T1020T	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1036	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTATCTGTAGGGTATAATTGT	0.343													False	0	True	15:56132913	0	A	56132913	G	A	56132913	2	1	88	1	0	0	0	0	0	0	0	1	10378	1219	43	2		2	NEDD4	15	56132913	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	160502	56132913	46398479	14851	22563											
NEDD4	4734	broad.mit.edu	37	chr15	56139215	56139215	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatactttcttttgtaatcCctggagtagggcactgcctt	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56139215C>A	ENST00000508342.1	-	14	3116	c.2817G>T	c.(2815-2817)agG>agT	p.R939S	NEDD4_ENST00000338963.2_Missense_Mutation_p.R867S|NEDD4_ENST00000435532.3_Missense_Mutation_p.R520S|NEDD4_ENST00000506154.1_Missense_Mutation_p.R923S	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	939	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTTTGTAATCCCTGGAGTAGG	0.299													False	0	True	15:56139215	0	A	56139215	C	A	56139215	3	1	88	1	0	0	0	0	1	0	0	0	10378	622	22	3	1190	3	NEDD4	15	56139215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6302	56139215	46392177	14852	22564											
RFX7	64864	broad.mit.edu	37	chr15	56385880	56385880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcaacaggtctttaacaGtgctattgaaatctaattgt	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56385880G>A	ENST00000423270.1	-	9	4045	c.4046C>T	c.(4045-4047)aCt>aTt	p.T1349I	RFX7_ENST00000317318.6_Missense_Mutation_p.T1349I|RFX7_ENST00000422057.1_Missense_Mutation_p.T1252I|RFX7_ENST00000559447.2_Missense_Mutation_p.T1252I	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1252					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTCTTTAACAGTGCTATTGAA	0.423													False	0	False	15:56385880	0	A	56385880	G	A	56385880	3	1	88	1	0	0	0	0	1	0	0	0	13347	1029	36	2	340	2	RFX7	15	56385880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	246665	56385880	46145512	14853	22565											
RFX7	64864	broad.mit.edu	37	chr15	56388340	56388340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagcagatgttccccccGcactgctgctcctggaccca	8	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56388340G>A	ENST00000423270.1	-	9	1585	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V	RFX7_ENST00000317318.6_Missense_Mutation_p.A529V|RFX7_ENST00000422057.1_Missense_Mutation_p.A432V|RFX7_ENST00000559447.2_Missense_Mutation_p.A432V	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	432					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGTTCCCCCCGCACTGCTGCT	0.512													False	0	True	15:56388340	0	A	56388340	G	A	56388340	3	1	88	1	0	0	0	0	1	0	0	0	13347	1087	38	1	2800	1	RFX7	15	56388340	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2460	56388340	46143052	14854	22566											
ZNF280D	54816	broad.mit.edu	37	chr15	56923986	56923986	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attatctgatgctaatcgcaAatccttaatattctttgaag	5	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56923986A>G	ENST00000559237.1	-	21	3294	c.2611T>C	c.(2611-2613)Ttg>Ctg	p.L871L	ZNF280D_ENST00000267807.7_Silent_p.L884L	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GCTAATCGCAAATCCTTAATA	0.348													False	0	True	15:56923986	0	G	56923986	A	G	56923986	2	3	88	1	0	0	0	0	0	0	0	1	17900	11	1	4		4	ZNF280D	15	56923986	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	535646	56923986	45607406	14855	22567											
ZNF280D	54816	broad.mit.edu	37	chr15	56958693	56958693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttgcaaaatcttttatttCggaacaacactcaatgcatt	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56958693C>T	ENST00000559237.1	-	15	2538	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	ZNF280D_ENST00000267807.7_Missense_Mutation_p.E632K|ZNF280D_ENST00000559000.1_Missense_Mutation_p.E619K|ZNF280D_ENST00000396245.1_Missense_Mutation_p.E336K	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TCTTTTATTTCGGAACAACAC	0.333													False	0	True	15:56958693	0	T	56958693	C	T	56958693	3	4	88	1	0	0	0	0	1	0	0	0	17900	893	31	1	1073	1	ZNF280D	15	56958693	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34707	56958693	45572699	14856	22568											
ZNF280D	54816	broad.mit.edu	37	chr15	56985325	56985325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgttggtcccccttggTaatgtgataatcctgtatcc	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56985325T>C	ENST00000559237.1	-	6	1114	c.431A>G	c.(430-432)tAc>tGc	p.Y144C	ZNF280D_ENST00000267807.7_Missense_Mutation_p.Y157C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y144C|ZNF280D_ENST00000396245.1_5'UTR	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TCCCCCTTGGTAATGTGATAA	0.343													False	0	False	15:56985325	0	C	56985325	T	C	56985325	3	2	88	1	0	0	0	0	1	0	0	0	17900	1638	57	4	2533	4	ZNF280D	15	56985325	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26632	56985325	45546067	14857	22569											
CGNL1	84952	broad.mit.edu	37	chr15	57731164	57731164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaggaatgtgccatccatGccgacaacgtcaatcgtcat	8	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57731164G>A	ENST00000281282.5	+	2	1045	c.967G>A	c.(967-969)Gcc>Acc	p.A323T		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	323	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGCCATCCATGCCGACAACGT	0.498													False	0	True	15:57731164	0	A	57731164	G	A	57731164	3	1	88	1	0	0	0	0	1	0	0	0	3327	1319	46	2	969	2	CGNL1	15	57731164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	745839	57731164	44800228	14858	22570											
CGNL1	84952	broad.mit.edu	37	chr15	57754064	57754064	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgctgagttgcaggccctgAgggagagtgtggaagaagca	17	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57754064A>C	ENST00000281282.5	+	8	2455	c.2377A>C	c.(2377-2379)Agg>Cgg	p.R793R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	793						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCAGGCCCTGAGGGAGAGTGT	0.537													False	0	True	15:57754064	0	C	57754064	A	C	57754064	2	2	88	1	0	0	0	0	0	0	0	1	3327	295	11	4		4	CGNL1	15	57754064	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22900	57754064	44777328	14859	22571											
GCOM1	0	broad.mit.edu	37	chr15	57913875	57913875	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgagatgagacagaagattCgacagctcacccaggaacta	10	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57913875C>T	ENST00000574161.1	+	4	507	c.388C>T	c.(388-390)Cga>Tga	p.R130*	GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R130*|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R130*|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380560.2_Intron|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R130*|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R130*|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.R130*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R130*	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		130					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						ACAGAAGATTCGACAGCTCAC	0.473													False	0	False	15:57913875	0	T	57913875	C	T	57913875	4	4	88	1	0	0	0	0	0	1	0	0	6348	876	31	1	402	1	GCOM1	15	57913875	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159811	57913875	44617517	14860	22572											
ADAM10	102	broad.mit.edu	37	chr15	58889681	58889681	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggagatgatgacttaataGgtttctctttggagtgaagt	12	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:58889681G>T	ENST00000402627.1	-	4	250	c.191C>A	c.(190-192)cCt>cAt	p.P64H	ADAM10_ENST00000260408.3_3'UTR|ADAM10_ENST00000561288.1_Missense_Mutation_p.P31H|ADAM10_ENST00000396140.2_3'UTR			O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	0					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGACTTAATAGGTTTCTCTTT	0.398													False	0	False	15:58889681	0	T	58889681	G	T	58889681	3	4	88	1	0	0	0	0	1	0	0	0	234	1015	35	3		3	ADAM10	15	58889681	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	975806	58889681	43641711	14861	22573											
ADAM10	102	broad.mit.edu	37	chr15	58974499	58974499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaagtgtccctcttcattCgtaggttgaaatgtctgtaa	11	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:58974499C>T	ENST00000260408.3	-	3	664	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	74					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCTCTTCATTCGTAGGTTGAA	0.299													False	0	False	15:58974499	0	T	58974499	C	T	58974499	3	4	88	1	0	0	0	0	1	0	0	0	234	884	31	1	2081	1	ADAM10	15	58974499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84818	58974499	43556893	14862	22574											
FAM63B	54629	broad.mit.edu	37	chr15	59064120	59064120	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatctccgagcctggactctCtggagtcgttctctaacctg	9	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59064120C>A	ENST00000559228.1	+	1	608	c.526C>A	c.(526-528)Ctg>Atg	p.L176M	FAM63B_ENST00000450403.2_Missense_Mutation_p.L176M			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	176										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTGGACTCTCTGGAGTCGTT	0.647													False	0	True	15:59064120	0	A	59064120	C	A	59064120	3	1	88	1	0	0	0	0	1	0	0	0	5637	912	32	3	528	3	FAM63B	15	59064120	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89621	59064120	43467272	14863	22575											
RNF111	54778	broad.mit.edu	37	chr15	59323801	59323801	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagttccagtgagaatgaCctcagcagtgaatcctcttc	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59323801C>T	ENST00000348370.4	+	2	1213	c.780C>T	c.(778-780)gaC>gaT	p.D260D	RNF111_ENST00000434298.1_Silent_p.D260D|RNF111_ENST00000559209.1_Silent_p.D260D|RNF111_ENST00000557998.1_Silent_p.D260D|RNF111_ENST00000561186.1_Silent_p.D260D	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	260	Interaction with AXIN1.|Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GTGAGAATGACCTCAGCAGTG	0.413													False	0	False	15:59323801	0	T	59323801	C	T	59323801	2	4	88	1	0	0	0	0	0	0	0	1	13504	506	18	2		2	RNF111	15	59323801	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	259681	59323801	43207591	14864	22576											
RNF111	54778	broad.mit.edu	37	chr15	59344625	59344625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtaacagttggagaaagCtatcggtgagattttaattc	10	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59344625C>T	ENST00000348370.4	+	3	1435	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	RNF111_ENST00000434298.1_Silent_p.S334S|RNF111_ENST00000559209.1_Silent_p.S334S|RNF111_ENST00000557998.1_Silent_p.S334S|RNF111_ENST00000561186.1_Silent_p.S334S	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	334	Interaction with AXIN1.|Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TTGGAGAAAGCTATCGGTGAG	0.313													False	0	False	15:59344625	0	T	59344625	C	T	59344625	2	4	88	1	0	0	0	0	0	0	0	1	13504	796	28	2		2	RNF111	15	59344625	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20824	59344625	43186767	14865	22577											
RNF111	54778	broad.mit.edu	37	chr15	59368362	59368362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgcgcagccccagccccaGccccctccacagccctctct	7	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59368362G>T	ENST00000348370.4	+	7	2329	c.1896G>T	c.(1894-1896)caG>caT	p.Q632H	RNF111_ENST00000434298.1_Missense_Mutation_p.Q632H|RNF111_ENST00000559209.1_Missense_Mutation_p.Q632H|RNF111_ENST00000557998.1_Missense_Mutation_p.Q632H|RNF111_ENST00000561186.1_Missense_Mutation_p.Q632H	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	632	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCCAGCCCCAGCCCCCTCCAC	0.507													False	0	True	15:59368362	0	T	59368362	G	T	59368362	3	4	88	1	0	0	0	0	1	0	0	0	13504	962	34	3	1918	3	RNF111	15	59368362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23737	59368362	43163030	14866	22578											
CCNB2	9133	broad.mit.edu	37	chr15	59399591	59399591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtcatgtgactattaggcGaactgttttagaagaaattg	11	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59399591G>A	ENST00000288207.2	+	2	286	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	32					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						ACTATTAGGCGAACTGTTTTA	0.353													False	0	False	15:59399591	0	A	59399591	G	A	59399591	3	1	88	1	0	0	0	0	1	0	0	0	2936	1058	37	1	101	1	CCNB2	15	59399591	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31229	59399591	43131801	14867	22579											
BNIP2	663	broad.mit.edu	37	chr15	59964895	59964895	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctactttcaggcatgaaacaGacagcaaacacaacaatggc	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59964895G>A	ENST00000267859.3	-	6	972	c.879C>T	c.(877-879)gtC>gtT	p.V293V	BNIP2_ENST00000415213.2_Silent_p.V234V|BNIP2_ENST00000607373.1_Silent_p.V172V			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	172	CRAL-TRIO.				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						GCATGAAACAGACAGCAAACA	0.333													False	0	True	15:59964895	0	A	59964895	G	A	59964895	2	1	88	1	0	0	0	0	0	0	0	1	1482	929	33	2		2	BNIP2	15	59964895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	565304	59964895	42566497	14868	22580											
FOXB1	27023	broad.mit.edu	37	chr15	60297560	60297560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtacctgcagcagcaggCcaagctgcggctcagcgcgc	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60297560C>T	ENST00000396057.4	+	2	877	c.398C>T	c.(397-399)gCc>gTc	p.A133V	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	133					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						CAGCAGCAGGCCAAGCTGCGG	0.721													False	0	False	15:60297560	0	T	60297560	C	T	60297560	3	4	88	1	0	0	0	0	1	0	0	0	6032	739	26	2	400	2	FOXB1	15	60297560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332665	60297560	42233832	14869	22581											
NARG2	79664	broad.mit.edu	37	chr15	60720793	60720793	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttttatacaaattgtaTgctgtcctagtaacttttcc	6	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60720793T>G	ENST00000261520.4	-	15	2889	c.2655A>C	c.(2653-2655)gcA>gcC	p.A885A	NARG2_ENST00000439632.1_Silent_p.A748A	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	885						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ACAAATTGTATGCTGTCCTAG	0.428													False	0	False	15:60720793	0	G	60720793	T	G	60720793	2	3	88	1	0	0	0	0	0	0	0	1	10236	1451	51	4		4	NARG2	15	60720793	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	423233	60720793	41810599	14870	22582											
NARG2	79664	broad.mit.edu	37	chr15	60724161	60724161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctttagaatgtgttggaGgatgttaaataaattggaaa	10	1	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60724161G>A	ENST00000261520.4	-	14	2767	c.2533C>T	c.(2533-2535)Ctc>Ttc	p.L845F	NARG2_ENST00000439632.1_Missense_Mutation_p.L708F	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	845						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ATGTGTTGGAGGATGTTAAAT	0.279													False	0	False	15:60724161	0	A	60724161	G	A	60724161	3	1	88	1	0	0	0	0	1	0	0	0	10236	1000	35	2	427	2	NARG2	15	60724161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3368	60724161	41807231	14871	22583											
NARG2	79664	broad.mit.edu	37	chr15	60741867	60741867	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagttcctgctttgggggcTgtaggagcatctgtcatgtt	14	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60741867T>G	ENST00000261520.4	-	10	1533	c.1299A>C	c.(1297-1299)acA>acC	p.T433T	NARG2_ENST00000439632.1_Silent_p.T296T	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	433						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CTTTGGGGGCTGTAGGAGCAT	0.428													False	0	False	15:60741867	0	G	60741867	T	G	60741867	2	3	88	1	0	0	0	0	0	0	0	1	10236	1567	55	4		4	NARG2	15	60741867	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17706	60741867	41789525	14872	22584											
NARG2	79664	broad.mit.edu	37	chr15	60748989	60748989	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcaatgcaagctcttaaaAttttctgagaaacagaaatt	6	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60748989A>C	ENST00000261520.4	-	6	767	c.533T>G	c.(532-534)aTt>aGt	p.I178S	NARG2_ENST00000439632.1_Missense_Mutation_p.I41S|NARG2_ENST00000561114.1_Missense_Mutation_p.I178S	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	178						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGCTCTTAAAATTTTCTGAGA	0.303													False	0	True	15:60748989	0	C	60748989	A	C	60748989	3	2	88	1	0	0	0	0	1	0	0	0	10236	101	4	4	2459	4	NARG2	15	60748989	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7122	60748989	41782403	14873	22585											
RORA	6095	broad.mit.edu	37	chr15	60803641	60803641	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcccgtcaatgtagtTactgaggtcgtcgtgaagtt	14	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60803641T>C	ENST00000335670.6	-	5	704	c.604A>G	c.(604-606)Aac>Gac	p.N202D	RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.N227D|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.N147D|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.N235D	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	235	Hinge.|Poly-Gln.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCAATGTAGTTACTGAGGTCG	0.612													False	0	False	15:60803641	0	C	60803641	T	C	60803641	3	2	88	1	0	0	0	0	1	0	0	0	13607	1754	61	4	995	4	RORA	15	60803641	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	54652	60803641	41727751	14874	22586											
VPS13C	54832	broad.mit.edu	37	chr15	62165457	62165457	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacttactcgcagaaagccCtttcctcctctggccaggct	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62165457C>A	ENST00000261517.5	-	78	10639	c.10566G>T	c.(10564-10566)aaG>aaT	p.K3522N	VPS13C_ENST00000395896.4_Missense_Mutation_p.K3522N|VPS13C_ENST00000395898.3_Missense_Mutation_p.K3479N|VPS13C_ENST00000249837.3_Missense_Mutation_p.K3479N	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3522					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAGAAAGCCCTTTCCTCCTC	0.408													False	0	True	15:62165457	0	A	62165457	C	A	62165457	3	1	88	1	0	0	0	0	1	0	0	0	17275	680	24	3	755	3	VPS13C	15	62165457	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1361816	62165457	40365935	14875	22587											
VPS13C	54832	broad.mit.edu	37	chr15	62264895	62264895	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctctgcagcttttttaagttCtgatcctttcatacttttac	4	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62264895C>T	ENST00000261517.5	-	27	2759	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	VPS13C_ENST00000395896.4_Missense_Mutation_p.E896K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E853K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E853K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	896					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTTTAAGTTCTGATCCTTTC	0.333													False	0	False	15:62264895	0	T	62264895	C	T	62264895	3	4	88	1	0	0	0	0	1	0	0	0	17275	922	32	2	8839	2	VPS13C	15	62264895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99438	62264895	40266497	14876	22588											
VPS13C	54832	broad.mit.edu	37	chr15	62283994	62283994	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttaatttttgcccagacCgaatcacctgaaaaataaaa	4	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62283994C>A	ENST00000261517.5	-	17	1434	c.1361G>T	c.(1360-1362)cGg>cTg	p.R454L	VPS13C_ENST00000395896.4_Missense_Mutation_p.R454L|VPS13C_ENST00000395898.3_Missense_Mutation_p.R411L|VPS13C_ENST00000249837.3_Missense_Mutation_p.R411L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	454					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGCCCAGACCGAATCACCTG	0.373													False	0	False	15:62283994	0	A	62283994	C	A	62283994	3	1	88	1	0	0	0	0	1	0	0	0	17275	652	23	3	10204	3	VPS13C	15	62283994	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19099	62283994	40247398	14877	22589											
TLN2	83660	broad.mit.edu	37	chr15	63019326	63019326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggaagcacatccaaggCggtgggctcctccatggcac	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63019326C>T	ENST00000561311.1	+	27	3526	c.3296C>T	c.(3295-3297)gCg>gTg	p.A1099V	TLN2_ENST00000306829.6_Missense_Mutation_p.A1099V			Q9Y4G6	TLN2_HUMAN	talin 2	1099	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACATCCAAGGCGGTGGGCTCC	0.532													False	0	False	15:63019326	0	T	63019326	C	T	63019326	3	4	88	1	0	0	0	0	1	0	0	0	16030	768	27	1	3394	1	TLN2	15	63019326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	735332	63019326	39512066	14878	22590											
TLN2	83660	broad.mit.edu	37	chr15	63029241	63029241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagaggccaagcaggccCtgattgcacctggagatgca	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63029241C>T	ENST00000561311.1	+	28	3753	c.3523C>T	c.(3523-3525)Ctg>Ttg	p.L1175L	TLN2_ENST00000306829.6_Silent_p.L1175L|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1175	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAAGCAGGCCCTGATTGCACC	0.547													False	0	True	15:63029241	0	T	63029241	C	T	63029241	2	4	88	1	0	0	0	0	0	0	0	1	16030	680	24	2		2	TLN2	15	63029241	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9915	63029241	39502151	14879	22591											
TLN2	83660	broad.mit.edu	37	chr15	63084884	63084884	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaggacctgggccacggCtgtatcttcctggtgcagaa	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63084884C>A	ENST00000561311.1	+	45	6011	c.5781C>A	c.(5779-5781)ggC>ggA	p.G1927G	TLN2_ENST00000306829.6_Silent_p.G1927G			Q9Y4G6	TLN2_HUMAN	talin 2	1927					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGGCCACGGCTGTATCTTCC	0.612													False	0	False	15:63084884	0	A	63084884	C	A	63084884	2	1	88	1	0	0	0	0	0	0	0	1	16030	784	28	3		3	TLN2	15	63084884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55643	63084884	39446508	14880	22592											
TPM1	7168	broad.mit.edu	37	chr15	63356268	63356268	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcctggtcatagacgagCtgtacgctcagaaactgaag	10	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63356268C>T	ENST00000288398.6	+	9	976	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	TPM1_ENST00000317516.7_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000559281.1_Silent_p.L224L|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000403994.3_Silent_p.L260L|TPM1_ENST00000560445.1_Intron	NM_000366.5	NP_000357.3	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	260					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						CATAGACGAGCTGTACGCTCA	0.522													False	0	False	15:63356268	0	T	63356268	C	T	63356268	2	4	88	1	0	0	0	0	0	0	0	1	16488	796	28	2		2	TPM1	15	63356268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	271384	63356268	39175124	14881	22593											
LACTB	114294	broad.mit.edu	37	chr15	63419787	63419788	+	Frame_Shift_Ins	INS	-	-	TAGAAAGTTAGTTGCCTCG													tcaaaacctggcaagaaaaaINSgaatgattttgaacaaggcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63419787_63419788insTAGAAAGTTAGTTGCCTCG	ENST00000413507.2	+	4	890_891	c.851_852insTAGAAAGTTAGTTGCCTCG	c.(850-855)aagaatfs	p.KN284fs	RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000261893.4_Frame_Shift_Ins_p.KN284fs	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN	lactamase, beta	284						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GGCAAGAAAAAGAATGATTTTG	0.302													False	0	True	15:63419787	0	TAGAAAGTTAGTTGCCTCG	63419788	-	TAGAAAGTTAGTTGCCTCG	63419787	7	5	88	1	0	1	1	0	0	0	0	0	8648	72	3	0	865	0	LACTB	15	63419787	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	63519	63419787	39111605	14882	22594											
RAB8B	51762	broad.mit.edu	37	chr15	63551873	63551873	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggagacaagcgcaaaatcCagtgcaaatgtagaagaggt	12	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63551873C>T	ENST00000321437.4	+	6	618	c.462C>T	c.(460-462)tcC>tcT	p.S154S	RAB8B_ENST00000448330.2_Silent_p.S154S	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	154					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						GCGCAAAATCCAGTGCAAATG	0.398													False	0	False	15:63551873	0	T	63551873	C	T	63551873	2	4	88	1	0	0	0	0	0	0	0	1	13036	581	21	2		2	RAB8B	15	63551873	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132086	63551873	38979519	14883	22595											
HERC1	8925	broad.mit.edu	37	chr15	63916522	63916522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcattataatgggatgtgCtgttctgtaacagaaggtac	11	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63916522C>T	ENST00000443617.2	-	72	13367	c.13280G>A	c.(13279-13281)aGc>aAc	p.S4427N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4427					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATGGGATGTGCTGTTCTGTAA	0.423													False	0	False	15:63916522	0	T	63916522	C	T	63916522	3	4	88	1	0	0	0	0	1	0	0	0	7104	797	28	2	1333	2	HERC1	15	63916522	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	364649	63916522	38614870	14884	22596											
HERC1	8925	broad.mit.edu	37	chr15	63920906	63920906	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggacaggtggtgctgTccatgcagcactgtggcagc	17	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63920906T>C	ENST00000443617.2	-	70	13162	c.13075A>G	c.(13075-13077)Aca>Gca	p.T4359A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4359					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGTGGTGCTGTCCATGCAGCA	0.532													False	0	False	15:63920906	0	C	63920906	T	C	63920906	3	2	88	1	0	0	0	0	1	0	0	0	7104	1667	58	4	1546	4	HERC1	15	63920906	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4384	63920906	38610486	14885	22597											
HERC1	8925	broad.mit.edu	37	chr15	63935242	63935242	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcctatcacaacagtttGcaagacagagccatcctaaa	7	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63935242G>A	ENST00000443617.2	-	59	11434	c.11347C>T	c.(11347-11349)Caa>Taa	p.Q3783*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3783					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						acaacagtttgcaagACAGAG	0.348													False	0	True	15:63935242	0	A	63935242	G	A	63935242	4	1	88	1	0	0	0	0	0	1	0	0	7104	1328	46	2	3318	2	HERC1	15	63935242	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14336	63935242	38596150	14886	22598											
HERC1	8925	broad.mit.edu	37	chr15	63967220	63967220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccagcagcacagaagcCgtcaggcctcggaatcgcgc	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63967220C>T	ENST00000443617.2	-	38	7254	c.7167G>A	c.(7165-7167)acG>acA	p.T2389T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2389					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCACAGAAGCCGTCAGGCCTC	0.488													False	0	False	15:63967220	0	T	63967220	C	T	63967220	2	4	88	1	0	0	0	0	0	0	0	1	7104	639	23	1		1	HERC1	15	63967220	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31978	63967220	38564172	14887	22599											
HERC1	8925	broad.mit.edu	37	chr15	64017505	64017505	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattacccaattgaggagtgTccatttctacaccgtcactg	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64017505T>G	ENST00000443617.2	-	18	3641	c.3554A>C	c.(3553-3555)gAc>gCc	p.D1185A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1185					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTGAGGAGTGTCCATTTCTAC	0.448													False	0	False	15:64017505	0	G	64017505	T	G	64017505	3	3	88	1	0	0	0	0	1	0	0	0	7104	1667	58	4	11275	4	HERC1	15	64017505	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50285	64017505	38513887	14888	22600											
HERC1	8925	broad.mit.edu	37	chr15	64019960	64019960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaactcaataaaggccgagCcactgacacagggagtaaca	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64019960C>T	ENST00000443617.2	-	17	3319	c.3232G>A	c.(3232-3234)Gct>Act	p.A1078T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1078					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AAAGGCCGAGCCACTGACACA	0.468													False	0	False	15:64019960	0	T	64019960	C	T	64019960	3	4	88	1	0	0	0	0	1	0	0	0	7104	739	26	2	11601	2	HERC1	15	64019960	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2455	64019960	38511432	14889	22601											
HERC1	8925	broad.mit.edu	37	chr15	64025296	64025296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagccaagtagggaggctaCgtgggtatgatcttgcaaac	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64025296C>T	ENST00000443617.2	-	14	2782	c.2695G>A	c.(2695-2697)Gta>Ata	p.V899I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	899					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGGAGGCTACGTGGGTATGA	0.423													False	0	False	15:64025296	0	T	64025296	C	T	64025296	3	4	88	1	0	0	0	0	1	0	0	0	7104	536	19	1	12150	1	HERC1	15	64025296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5336	64025296	38506096	14890	22602											
HERC1	8925	broad.mit.edu	37	chr15	64050478	64050478	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctcccccaaacataaacctCacaggtttcggagacaatgg	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64050478C>T	ENST00000443617.2	-	4	1204	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	373					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACATAAACCTCACAGGTTTCG	0.448													False	0	False	15:64050478	0	T	64050478	C	T	64050478	3	4	88	1	0	0	0	0	1	0	0	0	7104	835	29	2	13768	2	HERC1	15	64050478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25182	64050478	38480914	14891	22603											
FAM96A	84191	broad.mit.edu	37	chr15	64380897	64380897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacttaccaataagagtcGccaaagagcaatgaggtact	8	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64380897G>A	ENST00000557835.1	-	2	304	c.278C>T	c.(277-279)gCg>gTg	p.A93V	FAM96A_ENST00000300030.3_Missense_Mutation_p.A93V|FAM96A_ENST00000380290.3_Missense_Mutation_p.A93V|FAM96A_ENST00000559950.1_Missense_Mutation_p.A93V			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	93					chromosome segregation					kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AATAAGAGTCGCCAAAGAGCA	0.343													False	0	False	15:64380897	0	A	64380897	G	A	64380897	3	1	88	1	0	0	0	0	1	0	0	0	5694	1087	38	1	220	1	FAM96A	15	64380897	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	330419	64380897	38150495	14892	22604											
SNX1	6642	broad.mit.edu	37	chr15	64404870	64404870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaacaagaccaagagccacaGgatctctttgcaggcaagtt	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64404870G>T	ENST00000353874.4	+	2	294	c.258G>T	c.(256-258)caG>caT	p.Q86H	SNX1_ENST00000261889.5_Missense_Mutation_p.Q86H|SNX1_ENST00000560829.1_5'UTR|SNX1_ENST00000559844.1_Missense_Mutation_p.Q86H|SNX1_ENST00000561026.1_Missense_Mutation_p.Q86H			Q13596	SNX1_HUMAN	sorting nexin 1	86					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGAGCCACAGGATCTCTTTG	0.388													False	0	False	15:64404870	0	T	64404870	G	T	64404870	3	4	88	1	0	0	0	0	1	0	0	0	14960	991	35	3	264	3	SNX1	15	64404870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23973	64404870	38126522	14893	22605											
ZNF609	23060	broad.mit.edu	37	chr15	64915077	64915077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccaatacaccttttggtgCcagtggtcaacaatgacatc	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64915077C>T	ENST00000326648.3	+	2	927	c.799C>T	c.(799-801)Cca>Tca	p.P267S		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	267						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTTTTGGTGCCAGTGGTCAA	0.512													False	0	False	15:64915077	0	T	64915077	C	T	64915077	3	4	88	1	0	0	0	0	1	0	0	0	18118	739	26	2	805	2	ZNF609	15	64915077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510207	64915077	37616315	14894	22606											
ZNF609	23060	broad.mit.edu	37	chr15	64962610	64962610	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacactccttgactgcacaCgacatgattgggcaccccca	8	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64962610C>T	ENST00000326648.3	+	3	1167	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	347						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGACTGCACACGACATGATTG	0.403													False	0	False	15:64962610	0	T	64962610	C	T	64962610	4	4	88	1	0	0	0	0	0	1	0	0	18118	528	19	1	1049	1	ZNF609	15	64962610	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47533	64962610	37568782	14895	22607											
PIF1	80119	broad.mit.edu	37	chr15	65111378	65111378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcatccagggtactggCcagctcagggttgctgtcca	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65111378C>T	ENST00000268043.4	-	9	1472	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	PIF1_ENST00000333425.6_Missense_Mutation_p.A460T|PIF1_ENST00000559239.1_Missense_Mutation_p.A460T			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	460	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						AGGGTACTGGCCAGCTCAGGG	0.542													False	0	False	15:65111378	0	T	65111378	C	T	65111378	3	4	88	1	0	0	0	0	1	0	0	0	11952	739	26	2	567	2	PIF1	15	65111378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148768	65111378	37420014	14896	22608											
PIF1	80119	broad.mit.edu	37	chr15	65112092	65112092	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgagggccacatcatcCtggtgggtgcagagcctcgt	15	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65112092C>A	ENST00000268043.4	-	8	1381	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	PIF1_ENST00000333425.6_Missense_Mutation_p.Q429H|PIF1_ENST00000559239.1_Missense_Mutation_p.Q429H			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	429	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCACATCATCCTGGTGGGTGC	0.617													False	0	False	15:65112092	0	A	65112092	C	A	65112092	3	1	88	1	0	0	0	0	1	0	0	0	11952	680	24	3	662	3	PIF1	15	65112092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	714	65112092	37419300	14897	22609											
PLEKHO2	80301	broad.mit.edu	37	chr15	65157620	65157620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggcttctgggccacctgctCcaggcacagtgcaggtctca	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65157620C>T	ENST00000323544.4	+	6	1134	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	336	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCACCTGCTCCAGGCACAGT	0.602													False	0	False	15:65157620	0	T	65157620	C	T	65157620	3	4	88	1	0	0	0	0	1	0	0	0	12154	855	30	2	1028	2	PLEKHO2	15	65157620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45528	65157620	37373772	14898	22610											
ANKDD1A	348094	broad.mit.edu	37	chr15	65236895	65236895	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgcagcaaccatgtcaGcctggtggacatgatcataa	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65236895G>T	ENST00000380230.3	+	12	1141	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I	ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S371I|ANKDD1A_ENST00000395723.1_Intron|ANKDD1A_ENST00000357698.3_Intron	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	371					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						AACCATGTCAGCCTGGTGGAC	0.502													False	0	False	15:65236895	0	T	65236895	G	T	65236895	3	4	88	1	0	0	0	0	1	0	0	0	624	971	34	3	1158	3	ANKDD1A	15	65236895	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79275	65236895	37294497	14899	22611											
MTFMT	123263	broad.mit.edu	37	chr15	65316129	65316129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatgaacattcaatatGccactgagttagaaaatgta	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65316129G>A	ENST00000220058.4	-	3	436	c.423C>T	c.(421-423)ggC>ggT	p.G141G	MTFMT_ENST00000561025.1_Intron	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	141						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CATTCAATATGCCACTGAGTT	0.433													False	0	False	15:65316129	0	A	65316129	G	A	65316129	2	1	88	1	0	0	0	0	0	0	0	1	9991	1306	46	2		2	MTFMT	15	65316129	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79234	65316129	37215263	14900	22612											
CLPX	10845	broad.mit.edu	37	chr15	65448058	65448058	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttcctcctgctgatgattCtgtctaaaccattgaaagca	6	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65448058C>T	ENST00000300107.3	-	10	1471	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	428					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GCTGATGATTCTGTCTAAACC	0.398													False	0	False	15:65448058	0	T	65448058	C	T	65448058	3	4	88	1	0	0	0	0	1	0	0	0	3579	913	32	2	638	2	CLPX	15	65448058	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131929	65448058	37083334	14901	22613											
PARP16	54956	broad.mit.edu	37	chr15	65555562	65555562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacagctaaggatggggcCgaggaggctgtgctgccacc	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65555562C>T	ENST00000261888.6	-	4	1061	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	PARP16_ENST00000444347.2_Missense_Mutation_p.G91S	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	206	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						AGGATGGGGCCGAGGAGGCTG	0.587													False	0	False	15:65555562	0	T	65555562	C	T	65555562	3	4	88	1	0	0	0	0	1	0	0	0	11528	652	23	1	367	1	PARP16	15	65555562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107504	65555562	36975830	14902	22614											
PARP16	54956	broad.mit.edu	37	chr15	65578689	65578689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagggccgaggcgaagaGgctgcaccggaggtcggcgg	20	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65578689G>A	ENST00000261888.6	-	1	521	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	PARP16_ENST00000558873.1_Intron|PARP16_ENST00000444347.2_Missense_Mutation_p.L26F	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	26						integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAGGCGAAGAGGCTGCACCGG	0.726													False	0	False	15:65578689	0	A	65578689	G	A	65578689	3	1	88	1	0	0	0	0	1	0	0	0	11528	1000	35	2	919	2	PARP16	15	65578689	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23127	65578689	36952703	14903	22615											
IGDCC3	9543	broad.mit.edu	37	chr15	65623869	65623869	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccgcacattgcggggaGgcccggggagcccctcagcc	15	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65623869G>T	ENST00000327987.4	-	8	1528	c.1277C>A	c.(1276-1278)cCt>cAt	p.P426H	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	426	Fibronectin type-III 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATTGCGGGGAGGCCCGGGGAG	0.622													False	0	False	15:65623869	0	T	65623869	G	T	65623869	3	4	88	1	0	0	0	0	1	0	0	0	7618	1000	35	3	1195	3	IGDCC3	15	65623869	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45180	65623869	36907523	14904	22616											
IGDCC4	57722	broad.mit.edu	37	chr15	65678349	65678349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgagctctggagtacagCgcgggattcccgggggtggc	18	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65678349C>T	ENST00000352385.2	-	18	3209	c.3000G>A	c.(2998-3000)gcG>gcA	p.A1000A		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1000						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGAGTACAGCGCGGGATTCC	0.662											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	15:65678349	0	T	65678349	C	T	65678349	2	4	88	1	0	0	0	0	0	0	0	1	7619	755	27	1		1	IGDCC4	15	65678349	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54480	65678349	36853043	14905	22617											
IGDCC4	57722	broad.mit.edu	37	chr15	65682504	65682504	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtccccacctggtgtaataGgtgaccagggaggcattcct	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65682504G>T	ENST00000352385.2	-	13	2606	c.2397C>A	c.(2395-2397)acC>acA	p.T799T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	799	Fibronectin type-III 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGTGTAATAGGTGACCAGGG	0.532													False	0	False	15:65682504	0	T	65682504	G	T	65682504	2	4	88	1	0	0	0	0	0	0	0	1	7619	987	35	3		3	IGDCC4	15	65682504	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4155	65682504	36848888	14906	22618											
IGDCC4	57722	broad.mit.edu	37	chr15	65688258	65688258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgacgcggcagcgcacGccattcccgcgctgttctca	11	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65688258G>A	ENST00000352385.2	-	7	1450	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	414	Ig-like C2-type 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGCAGCGCACGCCATTCCCGC	0.701													False	0	False	15:65688258	0	A	65688258	G	A	65688258	3	1	88	1	0	0	0	0	1	0	0	0	7619	1087	38	1	2567	1	IGDCC4	15	65688258	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5754	65688258	36843134	14907	22619											
IGDCC4	57722	broad.mit.edu	37	chr15	65688350	65688350	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggctgccaccgccgccctgGaccttgacgcgcccgttggg	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65688350G>A	ENST00000352385.2	-	7	1358	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	383	Ig-like C2-type 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CGCCGCCCTGGACCTTGACGC	0.731													False	0	False	15:65688350	0	A	65688350	G	A	65688350	2	1	88	1	0	0	0	0	0	0	0	1	7619	1161	41	2		2	IGDCC4	15	65688350	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92	65688350	36843042	14908	22620											
IGDCC4	57722	broad.mit.edu	37	chr15	65694733	65694733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctggctgaagtgctggCgagctgagttggtggccacg	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65694733C>T	ENST00000352385.2	-	4	865	c.656G>A	c.(655-657)cGc>cAc	p.R219H		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	219	Ig-like C2-type 2.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GAAGTGCTGGCGAGCTGAGTT	0.622													False	0	False	15:65694733	0	T	65694733	C	T	65694733	3	4	88	1	0	0	0	0	1	0	0	0	7619	768	27	1	3164	1	IGDCC4	15	65694733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6383	65694733	36836659	14909	22621											
SLC24A1	9187	broad.mit.edu	37	chr15	65917907	65917907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccgaggatgtggcaggcGccacattcatggctgctgga	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65917907G>A	ENST00000261892.6	+	2	1776	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T	SLC24A1_ENST00000546330.1_Missense_Mutation_p.A497T|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A497T|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A497T|SLC24A1_ENST00000537259.1_Missense_Mutation_p.A497T|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A497T	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	497					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	p.A497T(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGCAGGCGCCACATTCAT	0.557													False	0	False	15:65917907	0	A	65917907	G	A	65917907	3	1	88	1	0	0	0	0	1	0	0	0	14545	1087	38	1		1	SLC24A1	15	65917907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	223174	65917907	36613485	14910	22622											
SLC24A1	9187	broad.mit.edu	37	chr15	65918300	65918300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtcatggccttagaagacCtcagcaaggtaaggacaaat	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65918300C>A	ENST00000261892.6	+	2	2169	c.1882C>A	c.(1882-1884)Ctc>Atc	p.L628I	SLC24A1_ENST00000546330.1_Missense_Mutation_p.L628I|SLC24A1_ENST00000339868.6_Missense_Mutation_p.L628I|SLC24A1_ENST00000399033.4_Missense_Mutation_p.L628I|SLC24A1_ENST00000537259.1_Missense_Mutation_p.L628I|SLC24A1_ENST00000544319.2_Missense_Mutation_p.L628I	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	628					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTTAGAAGACCTCAGCAAGGT	0.522													False	0	False	15:65918300	0	A	65918300	C	A	65918300	3	1	88	1	0	0	0	0	1	0	0	0	14545	681	24	3		3	SLC24A1	15	65918300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	393	65918300	36613092	14911	22623											
DENND4A	10260	broad.mit.edu	37	chr15	65962264	65962264	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcttgactttagaaagtatCtgtaatgtgaatcgaaggaa	11	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65962264C>A	ENST00000443035.3	-	27	4853		c.e27-1		DENND4A_ENST00000431932.2_Splice_Site	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TAGAAAGTATCTGTAATGTGA	0.378													False	0	False	15:65962264	0	A	65962264	C	A	65962264	5	1	88	1	0	0	0	0	0	0	1	0	4463	927	32	3	1111	3	DENND4A	15	65962264	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43964	65962264	36569128	14912	22624											
DENND4A	10260	broad.mit.edu	37	chr15	65982789	65982789	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacatggtgaatcttgaataCcatttgcttgctttctctgc	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65982789C>A	ENST00000443035.3	-	23	4355	c.4140G>T	c.(4138-4140)tgG>tgT	p.W1380C	DENND4A_ENST00000431932.2_Missense_Mutation_p.W1337C|DENND4A_ENST00000567323.1_5'UTR	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATCTTGAATACCATTTGCTTG	0.373													False	0	False	15:65982789	0	A	65982789	C	A	65982789	3	1	88	1	0	0	0	0	1	0	0	0	4463	508	18	3	1624	3	DENND4A	15	65982789	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20525	65982789	36548603	14913	22625											
DENND4A	10260	broad.mit.edu	37	chr15	66007885	66007885	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaaaagaacattcttcaatGaagcgaataaacatttgtgt	6	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66007885G>T	ENST00000443035.3	-	14	2099	c.1884C>A	c.(1882-1884)ttC>ttA	p.F628L	DENND4A_ENST00000431932.2_Missense_Mutation_p.F628L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	628	dDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATTCTTCAATGAAGCGAATAA	0.338													False	0	False	15:66007885	0	T	66007885	G	T	66007885	3	4	88	1	0	0	0	0	1	0	0	0	4463	1281	45	3	3916	3	DENND4A	15	66007885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25096	66007885	36523507	14914	22626											
DENND4A	10260	broad.mit.edu	37	chr15	66031062	66031062	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttttcagctgaggctccAgttaaaacaaaagtagaaaa	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66031062A>G	ENST00000443035.3	-	6	998	c.783T>C	c.(781-783)acT>acC	p.T261T	DENND4A_ENST00000431932.2_Silent_p.T261T	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	261	UDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTGAGGCTCCAGTTAAAACAA	0.343													False	0	False	15:66031062	0	G	66031062	A	G	66031062	2	3	88	1	0	0	0	0	0	0	0	1	4463	175	7	4		4	DENND4A	15	66031062	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23177	66031062	36500330	14915	22627											
DENND4A	10260	broad.mit.edu	37	chr15	66044893	66044893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtactcccactaatatttgCggggcgcccatagggagtac	12	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66044893C>T	ENST00000443035.3	-	4	600	c.385G>A	c.(385-387)Gca>Aca	p.A129T	DENND4A_ENST00000431932.2_Missense_Mutation_p.A129T	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	129	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTAATATTTGCGGGGCGCCCA	0.358													False	0	True	15:66044893	0	T	66044893	C	T	66044893	3	4	88	1	0	0	0	0	1	0	0	0	4463	768	27	1	5455	1	DENND4A	15	66044893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13831	66044893	36486499	14916	22628											
RAB11A	8766	broad.mit.edu	37	chr15	66170283	66170283	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttcctacagatgaagcaagAgcttttgcaggttagtgata	11	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66170283A>T	ENST00000261890.2	+	3	548	c.420A>T	c.(418-420)agA>agT	p.R140S	RAB11A_ENST00000565075.1_Missense_Mutation_p.R140S|RAB11A_ENST00000569896.1_Missense_Mutation_p.R140S|RAB11A_ENST00000435304.2_Missense_Mutation_p.R140S|RAB11A_ENST00000564910.1_Missense_Mutation_p.R70S	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	140					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						ATGAAGCAAGAGCTTTTGCAG	0.378													False	0	False	15:66170283	0	T	66170283	A	T	66170283	3	4	88	1	0	0	0	0	1	0	0	0	12970	301	11	5	430	5	RAB11A	15	66170283	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	125390	66170283	36361109	14917	22629											
MEGF11	84465	broad.mit.edu	37	chr15	66190303	66190303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctgggacggcccattgGcagggctctgtcttactggg	15	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66190303G>A	ENST00000409699.2	-	23	3276	c.3104C>T	c.(3103-3105)gCc>gTc	p.A1035V	MEGF11_ENST00000395625.2_Missense_Mutation_p.A960V|MEGF11_ENST00000422354.1_Missense_Mutation_p.A1035V|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.A960V			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1035						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CGGCCCATTGGCAGGGCTCTG	0.483													False	0	False	15:66190303	0	A	66190303	G	A	66190303	3	1	88	1	0	0	0	0	1	0	0	0	9528	1203	42	2	34	2	MEGF11	15	66190303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20020	66190303	36341089	14918	22630											
MEGF11	84465	broad.mit.edu	37	chr15	66190367	66190367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggctgttcctaggtaggtCgtatgcattctggatatagc	12	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66190367C>T	ENST00000409699.2	-	23	3212	c.3040G>A	c.(3040-3042)Gac>Aac	p.D1014N	MEGF11_ENST00000395625.2_Missense_Mutation_p.D939N|MEGF11_ENST00000422354.1_Missense_Mutation_p.D1014N|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.D939N			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1014						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CTAGGTAGGTCGTATGCATTC	0.478													False	0	True	15:66190367	0	T	66190367	C	T	66190367	3	4	88	1	0	0	0	0	1	0	0	0	9528	884	31	1	98	1	MEGF11	15	66190367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64	66190367	36341025	14919	22631											
DIS3L	115752	broad.mit.edu	37	chr15	66607510	66607510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgagaatgactgtgaCgacaaggcttcgggcgagtc	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66607510C>T	ENST00000319194.5	+	7	963	c.702C>T	c.(700-702)gaC>gaT	p.D234D	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Silent_p.D317D|DIS3L_ENST00000441424.2_Silent_p.D183D	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	317					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGACTGTGACGACAAGGCTT	0.498													False	0	False	15:66607510	0	T	66607510	C	T	66607510	2	4	88	1	0	0	0	0	0	0	0	1	4566	535	19	1		1	DIS3L	15	66607510	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	417143	66607510	35923882	14920	22632											
TIPIN	54962	broad.mit.edu	37	chr15	66633578	66633578	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcaattctttgttgttgctCttctgttaggcttctactta	6	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66633578C>T	ENST00000261881.4	-	7	677	c.592G>A	c.(592-594)Gag>Aag	p.E198K	TIPIN_ENST00000367709.4_Missense_Mutation_p.E97K	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	198					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						TGTTGTTGCTCTTCTGTTAGG	0.373													False	0	False	15:66633578	0	T	66633578	C	T	66633578	3	4	88	1	0	0	0	0	1	0	0	0	16007	922	32	2	321	2	TIPIN	15	66633578	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26068	66633578	35897814	14921	22633											
MAP2K1	5604	broad.mit.edu	37	chr15	66729129	66729129	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatccggaaccagatcataAgggagctgcaggttctgcat	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66729129A>C	ENST00000307102.5	+	3	868	c.337A>C	c.(337-339)Agg>Cgg	p.R113R		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	113	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CCAGATCATAAGGGAGCTGCA	0.488													False	0	True	15:66729129	0	C	66729129	A	C	66729129	2	2	88	1	0	0	0	0	0	0	0	1	9303	63	3	4		4	MAP2K1	15	66729129	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	95551	66729129	35802263	14922	22634											
RPL4	6124	broad.mit.edu	37	chr15	66791951	66791951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctgatttggcttgtagtgCcgctgctgcagcagctgcct	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66791951C>T	ENST00000307961.6	-	10	1170	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T	RPL4_ENST00000568588.1_Missense_Mutation_p.A266T	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	360					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTTGTAGTGCCGCTGCTGCA	0.478													False	0	False	15:66791951	0	T	66791951	C	T	66791951	3	4	88	1	0	0	0	0	1	0	0	0	13674	739	26	2	209	2	RPL4	15	66791951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62822	66791951	35739441	14923	22635											
RPL4	6124	broad.mit.edu	37	chr15	66793365	66793365	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggaaagcactttcagtcCaaatgcagaaacgtcccaca	7	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66793365C>T	ENST00000307961.6	-	7	847	c.755G>A	c.(754-756)tGg>tAg	p.W252*	RPL4_ENST00000568588.1_Nonsense_Mutation_p.W158*	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	252					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						ACTTTCAGTCCAAATGCAGAA	0.403													False	0	True	15:66793365	0	T	66793365	C	T	66793365	4	4	88	1	0	0	0	0	0	1	0	0	13674	595	21	2	544	2	RPL4	15	66793365	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1414	66793365	35738027	14924	22636											
RPL4	6124	broad.mit.edu	37	chr15	66794186	66794186	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaacagcttccttggtcttCttgtagccttcaactttatc	5	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66794186C>A	ENST00000307961.6	-	5	578	c.486G>T	c.(484-486)aaG>aaT	p.K162N	RPL4_ENST00000568588.1_Missense_Mutation_p.K68N	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	162					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CCTTGGTCTTCTTGTAGCCTT	0.388													False	0	False	15:66794186	0	A	66794186	C	A	66794186	3	1	88	1	0	0	0	0	1	0	0	0	13674	912	32	3	821	3	RPL4	15	66794186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	821	66794186	35737206	14925	22637											
ZWILCH	55055	broad.mit.edu	37	chr15	66807941	66807941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatctgatttctctactggCgaaaatgttggaccacttgc	8	9	2	1	rs143266025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66807941C>T	ENST00000307897.5	+	4	659	c.279C>T	c.(277-279)ggC>ggT	p.G93G	ZWILCH_ENST00000535141.2_5'UTR|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000565627.1_5'UTR|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000446801.2_5'UTR|RPL4_ENST00000568588.1_Intron	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	93					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCTCTACTGGCGAAAATGTTG	0.358													False	0	False	15:66807941	0	T	66807941	C	T	66807941	2	4	88	1	0	0	0	0	0	0	0	1	18330	755	27	1		1	ZWILCH	15	66807941	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13755	66807941	35723451	14926	22638											
ZWILCH	55055	broad.mit.edu	37	chr15	66813472	66813472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcacaaactgcgatcGctttggatatttcctggagt	9	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66813472G>A	ENST00000307897.5	+	7	1056	c.676G>A	c.(676-678)Gct>Act	p.A226T	ZWILCH_ENST00000535141.2_Missense_Mutation_p.A112T|ZWILCH_ENST00000565627.1_Missense_Mutation_p.A112T|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000446801.2_Missense_Mutation_p.A112T|RPL4_ENST00000568588.1_Intron	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	226					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AACTGCGATCGCTTTGGATAT	0.463													False	0	False	15:66813472	0	A	66813472	G	A	66813472	3	1	88	1	0	0	0	0	1	0	0	0	18330	1087	38	1	702	1	ZWILCH	15	66813472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5531	66813472	35717920	14927	22639											
LCTL	197021	broad.mit.edu	37	chr15	66844115	66844115	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caacatagtagaatccatatCtatctgagtatcctttctcc	4	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66844115C>A	ENST00000341509.5	-	11	1540	c.1409G>T	c.(1408-1410)aGa>aTa	p.R470I	LCTL_ENST00000537670.1_Missense_Mutation_p.R297I	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	470					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAATCCATATCTATCTGAGTA	0.353													False	0	True	15:66844115	0	A	66844115	C	A	66844115	3	1	88	1	0	0	0	0	1	0	0	0	8745	913	32	3	306	3	LCTL	15	66844115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30643	66844115	35687277	14928	22640											
LCTL	197021	broad.mit.edu	37	chr15	66857032	66857032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggaccttgtagtagccGtcacaggctacatctgccgt	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66857032G>A	ENST00000341509.5	-	2	395	c.264C>T	c.(262-264)gaC>gaT	p.D88D	LCTL_ENST00000537670.1_Intron|LCTL_ENST00000563438.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	88					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.D88D(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTAGTAGCCGTCACAGGCTA	0.597													False	0	False	15:66857032	0	A	66857032	G	A	66857032	2	1	88	1	0	0	0	0	0	0	0	1	8745	1136	40	1		1	LCTL	15	66857032	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12917	66857032	35674360	14929	22641											
AAGAB	79719	broad.mit.edu	37	chr15	67524224	67524224	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcgctttactcctgtagattCtgggaagtcatctaatcagg	9	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67524224C>T	ENST00000261880.5	-	5	567	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	AAGAB_ENST00000561452.1_Missense_Mutation_p.E46K|AAGAB_ENST00000542650.1_Missense_Mutation_p.E46K	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	155					protein transport	cytoplasm		p.E155*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCTGTAGATTCTGGGAAGTCA	0.403													False	0	False	15:67524224	0	T	67524224	C	T	67524224	3	4	88	1	0	0	0	0	1	0	0	0	15	922	32	2	508	2	AAGAB	15	67524224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	667192	67524224	35007168	14930	22642											
IQCH	64799	broad.mit.edu	37	chr15	67665742	67665742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatcgcatcaggacctccaGgaggactattatccatatcc	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67665742G>T	ENST00000335894.4	+	10	1409	c.1343G>T	c.(1342-1344)aGg>aTg	p.R448M	IQCH_ENST00000546225.1_Missense_Mutation_p.R196M|IQCH_ENST00000358767.3_Missense_Mutation_p.R275M|IQCH_ENST00000360277.4_Missense_Mutation_p.R200M	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	448										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AGGACCTCCAGGAGGACTATT	0.428													False	0	False	15:67665742	0	T	67665742	G	T	67665742	3	4	88	1	0	0	0	0	1	0	0	0	7861	1000	35	3	1509	3	IQCH	15	67665742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141518	67665742	34865650	14931	22643											
IQCH	64799	broad.mit.edu	37	chr15	67768123	67768123	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cactatgtttttctccagatCtgtagggcccatggcattgg	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67768123C>A	ENST00000335894.4	+	18	2832	c.2766C>A	c.(2764-2766)atC>atA	p.I922I	IQCH_ENST00000546225.1_Silent_p.I579I|IQCH_ENST00000358767.3_Silent_p.I658I|IQCH_ENST00000360277.4_Silent_p.I583I|IQCH-AS1_ENST00000559298.1_lincRNA	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	922										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTCTCCAGATCTGTAGGGCCC	0.502													False	0	False	15:67768123	0	A	67768123	C	A	67768123	2	1	88	1	0	0	0	0	0	0	0	1	7861	903	32	3		3	IQCH	15	67768123	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102381	67768123	34763269	14932	22644											
PIAS1	8554	broad.mit.edu	37	chr15	68479934	68479934	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagcagtttcagatgatcaaGacctcctacactcgtctcgg	8	13	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68479934G>T	ENST00000545237.1	+	15	2464	c.1723G>T	c.(1723-1725)Gac>Tac	p.D575Y	PIAS1_ENST00000249636.6_Missense_Mutation_p.D573Y			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	573	4 X 4 AA repeats of N-T-S-L.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AGATGATCAAGACCTCCTACA	0.463													False	0	False	15:68479934	0	T	68479934	G	T	68479934	3	4	88	1	0	0	0	0	1	0	0	0	11944	942	33	3	1771	3	PIAS1	15	68479934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	711811	68479934	34051458	14933	22645											
PIAS1	8554	broad.mit.edu	37	chr15	68479978	68479978	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcccgtatacctcctcacaGatgtttcttgatcagttaag	6	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68479978G>A	ENST00000545237.1	+	15	2508	c.1767G>A	c.(1765-1767)caG>caA	p.Q589Q	PIAS1_ENST00000249636.6_Silent_p.Q587Q			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	587	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CCTCCTCACAGATGTTTCTTG	0.502													False	0	False	15:68479978	0	A	68479978	G	A	68479978	2	1	88	1	0	0	0	0	0	0	0	1	11944	933	33	2		2	PIAS1	15	68479978	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	68479978	34051414	14934	22646											
CLN6	54982	broad.mit.edu	37	chr15	68500636	68500636	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaggagaagaggaagaGgccgttgctgtccaggaaga	18	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68500636G>T	ENST00000249806.5	-	7	935	c.778C>A	c.(778-780)Ctc>Atc	p.L260I	CLN6_ENST00000566347.1_Missense_Mutation_p.L197I|CLN6_ENST00000418702.2_Missense_Mutation_p.L131I|CLN6_ENST00000565471.1_Missense_Mutation_p.L107I|CLN6_ENST00000538696.1_Missense_Mutation_p.L292I|RP11-315D16.2_ENST00000562767.1_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	260					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AAGAGGAAGAGGCCGTTGCTG	0.592													False	0	False	15:68500636	0	T	68500636	G	T	68500636	3	4	88	1	0	0	0	0	1	0	0	0	3568	1000	35	3	161	3	CLN6	15	68500636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20658	68500636	34030756	14935	22647											
CLN6	54982	broad.mit.edu	37	chr15	68500697	68500697	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggacgagggccagcatggcGaagaaggtgaagatgaagag	18	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68500697G>A	ENST00000249806.5	-	7	874	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CLN6_ENST00000566347.1_Silent_p.F176F|CLN6_ENST00000418702.2_Silent_p.F110F|CLN6_ENST00000564752.1_3'UTR|CLN6_ENST00000565471.1_Silent_p.F86F|CLN6_ENST00000538696.1_Silent_p.F271F|RP11-315D16.2_ENST00000562767.1_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	239					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAGCATGGCGAAGAAGGTGA	0.607													False	0	False	15:68500697	0	A	68500697	G	A	68500697	2	1	88	1	0	0	0	0	0	0	0	1	3568	1049	37	1		1	CLN6	15	68500697	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61	68500697	34030695	14936	22648											
CORO2B	10391	broad.mit.edu	37	chr15	68937536	68937536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccgtagctccaagttccGgaatgtctacgggaaggtgg	13	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68937536G>A	ENST00000543950.1	+	2	392	c.38G>A	c.(37-39)cGg>cAg	p.R13Q	CORO2B_ENST00000540068.1_Missense_Mutation_p.R13Q|CORO2B_ENST00000566799.1_Missense_Mutation_p.R18Q|CORO2B_ENST00000261861.5_Missense_Mutation_p.R13Q	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	18					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	p.R18Q(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCAAGTTCCGGAATGTCTAC	0.612													False	0	False	15:68937536	0	A	68937536	G	A	68937536	3	1	88	1	0	0	0	0	1	0	0	0	3780	1116	39	1	59	1	CORO2B	15	68937536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	436839	68937536	33593856	14937	22649											
CORO2B	10391	broad.mit.edu	37	chr15	69006382	69006382	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgccctctgggaccaggTcagccacggggaggcctgct	15	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69006382T>C	ENST00000543950.1	+	6	1104		c.e6+2		CORO2B_ENST00000540068.1_Splice_Site|CORO2B_ENST00000566799.1_Splice_Site|CORO2B_ENST00000261861.5_Splice_Site	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B						actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGGACCAGGTCAGCCACGGG	0.607													False	0	False	15:69006382	0	C	69006382	T	C	69006382	5	2	88	1	0	0	0	0	0	0	1	0	3780	1681	58	4	789	4	CORO2B	15	69006382	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	68846	69006382	33525010	14938	22650											
SPESP1	246777	broad.mit.edu	37	chr15	69238882	69238882	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tattcaatacattaaaaaatAtgtgtagatcaaggagagtc	7	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69238882A>G	ENST00000310673.3	+	2	1163	c.1009A>G	c.(1009-1011)Atg>Gtg	p.M337V	NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	337					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						ATTAAAAAATATGTGTAGATC	0.269													False	0	False	15:69238882	0	G	69238882	A	G	69238882	3	3	88	1	0	0	0	0	1	0	0	0	15122	449	16	4	1015	4	SPESP1	15	69238882	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	232500	69238882	33292510	14939	22651											
NOX5	79400	broad.mit.edu	37	chr15	69323949	69323949	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactcgggacaggcagtggCtccattgacccggatgagct	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69323949C>A	ENST00000260364.5	+	5	664	c.363C>A	c.(361-363)ggC>ggA	p.G121G	NOX5_ENST00000448182.3_Silent_p.G93G|NOX5_ENST00000455873.3_Silent_p.G104G|NOX5_ENST00000388866.3_Silent_p.G139G|NOX5_ENST00000530406.2_Silent_p.G111G			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	139	EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGGCAGTGGCTCCATTGACC	0.662													False	0	False	15:69323949	0	A	69323949	C	A	69323949	2	1	88	1	0	0	0	0	0	0	0	1	10627	784	28	3		3	NOX5	15	69323949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85067	69323949	33207443	14940	22652											
NOX5	79400	broad.mit.edu	37	chr15	69324134	69324134	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgcttccccggagtcaTggagaacctgaccatcaggt	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69324134T>C	ENST00000260364.5	+	5	849	c.548T>C	c.(547-549)aTg>aCg	p.M183T	NOX5_ENST00000448182.3_Missense_Mutation_p.M155T|NOX5_ENST00000455873.3_Missense_Mutation_p.M166T|NOX5_ENST00000388866.3_Missense_Mutation_p.M201T|NOX5_ENST00000530406.2_Missense_Mutation_p.M173T			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	201	EF-hand 4.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCCGGAGTCATGGAGAACCTG	0.662													False	0	False	15:69324134	0	C	69324134	T	C	69324134	3	2	88	1	0	0	0	0	1	0	0	0	10627	1464	51	4	649	4	NOX5	15	69324134	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	185	69324134	33207258	14941	22653											
NOX5	79400	broad.mit.edu	37	chr15	69325509	69325509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacctatgcaggcctccaCgtgctgctcttcgggctggc	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69325509C>T	ENST00000260364.5	+	6	994	c.693C>T	c.(691-693)caC>caT	p.H231H	NOX5_ENST00000448182.3_Silent_p.H203H|NOX5_ENST00000455873.3_Silent_p.H214H|NOX5_ENST00000388866.3_Silent_p.H249H|NOX5_ENST00000530406.2_Silent_p.H221H			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	249					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGGCCTCCACGTGCTGCTCT	0.731													False	0	False	15:69325509	0	T	69325509	C	T	69325509	2	4	88	1	0	0	0	0	0	0	0	1	10627	535	19	1		1	NOX5	15	69325509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1375	69325509	33205883	14942	22654											
NOX5	79400	broad.mit.edu	37	chr15	69348991	69348991	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccaaggtgctgaagggCcattgtgagaagttcggctt	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69348991C>T	ENST00000260364.5	+	17	2500	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	NOX5_ENST00000448182.3_Silent_p.G705G|NOX5_ENST00000455873.3_Silent_p.G716G|NOX5_ENST00000388866.3_Silent_p.G751G|NOX5_ENST00000530406.2_Silent_p.G723G			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	751					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGCTGAAGGGCCATTGTGAGA	0.537													False	0	True	15:69348991	0	T	69348991	C	T	69348991	2	4	88	1	0	0	0	0	0	0	0	1	10627	726	26	2		2	NOX5	15	69348991	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23482	69348991	33182401	14943	22655											
KIF23	9493	broad.mit.edu	37	chr15	69718750	69718750	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatagcgtgttcaacattaAattagttcaggctcccttgg	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69718750A>C	ENST00000260363.4	+	9	1040	c.923A>C	c.(922-924)aAa>aCa	p.K308T	KIF23_ENST00000352331.4_Missense_Mutation_p.K308T|KIF23_ENST00000559279.1_Missense_Mutation_p.K308T|KIF23_ENST00000537891.1_Missense_Mutation_p.K125T|KIF23_ENST00000558585.1_Missense_Mutation_p.K125T|KIF23_ENST00000395392.2_Missense_Mutation_p.K308T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	308	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTCAACATTAAATTAGTTCAG	0.403													False	0	True	15:69718750	0	C	69718750	A	C	69718750	3	2	88	1	0	0	0	0	1	0	0	0	8341	14	1	4	957	4	KIF23	15	69718750	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	369759	69718750	32812642	14944	22656											
KIF23	9493	broad.mit.edu	37	chr15	69730728	69730728	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acgactggaaaagaaaaacaAaactttagaatataaggttt	7	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69730728A>C	ENST00000260363.4	+	15	1814	c.1697A>C	c.(1696-1698)aAa>aCa	p.K566T	KIF23_ENST00000352331.4_Missense_Mutation_p.K566T|KIF23_ENST00000559279.1_Missense_Mutation_p.K566T|KIF23_ENST00000537891.1_Missense_Mutation_p.K383T|KIF23_ENST00000558585.1_Missense_Mutation_p.K383T|KIF23_ENST00000395392.2_Missense_Mutation_p.K566T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	566					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AAGAAAAACAAAACTTTAGAA	0.353													False	0	True	15:69730728	0	C	69730728	A	C	69730728	3	2	88	1	0	0	0	0	1	0	0	0	8341	14	1	4	1755	4	KIF23	15	69730728	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11978	69730728	32800664	14945	22657											
TLE3	7090	broad.mit.edu	37	chr15	70353110	70353110	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaagagaagctgaactcctCtctgccctgcagatcgtggc	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70353110C>T	ENST00000442299.2	-	8	1697	c.579G>A	c.(577-579)gaG>gaA	p.E193E	TLE3_ENST00000560589.1_Intron|TLE3_ENST00000558201.1_Intron|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000558939.1_Intron|TLE3_ENST00000557907.1_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000539550.1_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000317509.8_Intron|TLE3_ENST00000557997.1_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000451782.2_Intron|TLE3_ENST00000559929.1_Intron|TLE3_ENST00000440567.3_Intron			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	193	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGaactcctctctgccctgc	0.592													False	0	True	15:70353110	0	T	70353110	C	T	70353110	5	4	88	1	0	0	0	0	0	0	1	0	16022	928	32	2		2	TLE3	15	70353110	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	622382	70353110	32178282	14946	22658											
TLE3	7090	broad.mit.edu	37	chr15	70358362	70358362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagccgcacctctgtgatCgagttcatggtggttcttct	10	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70358362C>T	ENST00000558939.1	-	7	1945	c.568G>A	c.(568-570)Gat>Aat	p.D190N	TLE3_ENST00000560589.1_Missense_Mutation_p.D134N|TLE3_ENST00000558201.1_Missense_Mutation_p.D196N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000557907.1_Missense_Mutation_p.D190N|TLE3_ENST00000442299.2_Missense_Mutation_p.D190N|TLE3_ENST00000559048.1_Missense_Mutation_p.D195N|TLE3_ENST00000539550.1_Missense_Mutation_p.D134N|TLE3_ENST00000560939.1_Missense_Mutation_p.D195N|TLE3_ENST00000317509.8_Missense_Mutation_p.D190N|TLE3_ENST00000557997.1_Missense_Mutation_p.D190N|TLE3_ENST00000558379.1_Missense_Mutation_p.D190N|TLE3_ENST00000451782.2_Missense_Mutation_p.D190N|TLE3_ENST00000559929.1_Missense_Mutation_p.D200N|TLE3_ENST00000440567.3_Missense_Mutation_p.D183N	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	190	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCTGTGATCGAGTTCATGG	0.672													False	0	False	15:70358362	0	T	70358362	C	T	70358362	3	4	88	1	0	0	0	0	1	0	0	0	16022	884	31	1	1806	1	TLE3	15	70358362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5252	70358362	32173030	14947	22659											
UACA	55075	broad.mit.edu	37	chr15	70969475	70969475	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcatcagcaaccataActtcctaaatttaaaaagaa	3	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70969475A>C	ENST00000322954.6	-	12	1189	c.1004T>G	c.(1003-1005)gTt>gGt	p.V335G	UACA_ENST00000539319.1_Missense_Mutation_p.V226G|UACA_ENST00000379983.2_Missense_Mutation_p.V322G|UACA_ENST00000560441.1_Missense_Mutation_p.V322G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	335						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGCAACCATAACTTCCTAAAT	0.274													False	0	False	15:70969475	0	C	70969475	A	C	70969475	3	2	88	1	0	0	0	0	1	0	0	0	16908	43	2	4	3278	4	UACA	15	70969475	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	611113	70969475	31561917	14948	22660											
UACA	55075	broad.mit.edu	37	chr15	70970491	70970491	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atccaaaagtattctttgttCttgctgaatttttctcaacc	4	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70970491C>A	ENST00000322954.6	-	11	1131	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	UACA_ENST00000539319.1_Nonsense_Mutation_p.E207*|UACA_ENST00000379983.2_Nonsense_Mutation_p.E303*|UACA_ENST00000560441.1_Nonsense_Mutation_p.E303*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	316						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTCTTTGTTCTTGCTGAATT	0.308													False	0	False	15:70970491	0	A	70970491	C	A	70970491	4	1	88	1	0	0	0	0	0	1	0	0	16908	922	32	3	3340	3	UACA	15	70970491	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1016	70970491	31560901	14949	22661											
UACA	55075	broad.mit.edu	37	chr15	70970515	70970515	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgaatttttctcaacctctCtttcaaatcttcattttcaa	1	11	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70970515C>T	ENST00000322954.6	-	11	1107	c.922G>A	c.(922-924)Gag>Aag	p.E308K	UACA_ENST00000539319.1_Missense_Mutation_p.E199K|UACA_ENST00000379983.2_Missense_Mutation_p.E295K|UACA_ENST00000560441.1_Missense_Mutation_p.E295K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	308						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCAACCTCTCTTTCAAATCT	0.303													False	0	True	15:70970515	0	T	70970515	C	T	70970515	3	4	88	1	0	0	0	0	1	0	0	0	16908	922	32	2	3364	2	UACA	15	70970515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24	70970515	31560877	14950	22662											
THAP10	56906	broad.mit.edu	37	chr15	71174954	71174954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtagttgcattacacaGtctttttccaaacgctttca	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71174954G>A	ENST00000249861.4	-	3	1125	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	205							DNA binding|metal ion binding	p.L205M(1)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCATTACACAGTCTTTTTCCA	0.363													False	0	False	15:71174954	0	A	71174954	G	A	71174954	2	1	88	1	0	0	0	0	0	0	0	1	15924	1020	36	2		2	THAP10	15	71174954	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204439	71174954	31356438	14951	22663											
LRRC49	54839	broad.mit.edu	37	chr15	71188217	71188217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctaaataaagacacatcGtcattccccggtagactttt	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71188217G>A	ENST00000260382.5	+	3	395	c.135G>A	c.(133-135)tcG>tcA	p.S45S	LRRC49_ENST00000560369.1_Silent_p.S50S|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Silent_p.S35S|LRRC49_ENST00000443425.2_5'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	45						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGACACATCGTCATTCCCCG	0.323													False	0	False	15:71188217	0	A	71188217	G	A	71188217	2	1	88	1	0	0	0	0	0	0	0	1	9068	1132	40	1		1	LRRC49	15	71188217	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13263	71188217	31343175	14952	22664											
LRRC49	54839	broad.mit.edu	37	chr15	71276472	71276472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaacgtagctcgacagTgggacttgcaacaacaacga	9	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71276472T>C	ENST00000260382.5	+	11	1305	c.1045T>C	c.(1045-1047)Tgg>Cgg	p.W349R	LRRC49_ENST00000560369.1_Missense_Mutation_p.W354R|LRRC49_ENST00000560691.1_Missense_Mutation_p.W55R|LRRC49_ENST00000560158.2_Missense_Mutation_p.W37R|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.W339R|LRRC49_ENST00000443425.2_Missense_Mutation_p.W305R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	349						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGCTCGACAGTGGGACTTGCA	0.378													False	0	True	15:71276472	0	C	71276472	T	C	71276472	3	2	88	1	0	0	0	0	1	0	0	0	9068	1696	59	4	1087	4	LRRC49	15	71276472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88255	71276472	31254920	14953	22665											
THSD4	79875	broad.mit.edu	37	chr15	72039244	72039244	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcatgcagcaccgccaggttCtgtgccgccaggtgtacgcc	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72039244C>T	ENST00000355327.3	+	13	2238	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	THSD4_ENST00000357769.4_Silent_p.L342L|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.L702L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	702	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCGCCAGGTTCTGTGCCGCCA	0.617													False	0	False	15:72039244	0	T	72039244	C	T	72039244	2	4	88	1	0	0	0	0	0	0	0	1	15960	912	32	2		2	THSD4	15	72039244	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	762772	72039244	30492148	14954	22666											
NR2E3	10002	broad.mit.edu	37	chr15	72103910	72103910	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgcaacggctgcagcgGcttcttcaagaggagcgtac	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72103910G>A	ENST00000398840.2	+	0	396							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						GGCTGCAGCGGCTTCTTCAAG	0.672													False	0	False	15:72103910	0	A	72103910	G	A	72103910	1	1	88	0	1	0	0	0	0	0	0	0	10694	1203	42	2		2	NR2E3	15	72103910	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64666	72103910	30427482	14955	22667											
MYO9A	4649	broad.mit.edu	37	chr15	72119059	72119059	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaggtgagtttttcacattCtttaatttttgtttgccctt	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72119059C>A	ENST00000356056.5	-	42	7981	c.7509G>T	c.(7507-7509)aaG>aaT	p.K2503N	MYO9A_ENST00000444904.1_Missense_Mutation_p.K2484N|MYO9A_ENST00000424560.1_Missense_Mutation_p.K2574N|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2503	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTTCACATTCTTTAATTTTT	0.488													False	0	True	15:72119059	0	A	72119059	C	A	72119059	3	1	88	1	0	0	0	0	1	0	0	0	10151	912	32	3	141	3	MYO9A	15	72119059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15149	72119059	30412333	14956	22668											
MYO9A	4649	broad.mit.edu	37	chr15	72119296	72119296	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtccacgacatctaaagaGtcttgctgctttttaagttg	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72119296G>A	ENST00000356056.5	-	42	7744	c.7272C>T	c.(7270-7272)gaC>gaT	p.D2424D	MYO9A_ENST00000444904.1_Silent_p.D2405D|MYO9A_ENST00000424560.1_Silent_p.D2495D|MYO9A_ENST00000564571.1_3'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2424	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATCTAAAGAGTCTTGCTGCT	0.428													False	0	False	15:72119296	0	A	72119296	G	A	72119296	2	1	88	1	0	0	0	0	0	0	0	1	10151	1020	36	2		2	MYO9A	15	72119296	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237	72119296	30412096	14957	22669											
MYO9A	4649	broad.mit.edu	37	chr15	72122595	72122595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcagacacagaaggcaaccGaactacaacaggagacgatg	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72122595G>A	ENST00000356056.5	-	40	7367	c.6895C>T	c.(6895-6897)Cgg>Tgg	p.R2299W	MYO9A_ENST00000444904.1_Missense_Mutation_p.R2280W|MYO9A_ENST00000424560.1_Missense_Mutation_p.R2370W|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2299W	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2299	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAAGGCAACCGAACTACAACA	0.488													False	0	False	15:72122595	0	A	72122595	G	A	72122595	3	1	88	1	0	0	0	0	1	0	0	0	10151	1057	37	1	763	1	MYO9A	15	72122595	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3299	72122595	30408797	14958	22670											
MYO9A	4649	broad.mit.edu	37	chr15	72146772	72146772	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attagtcgaaccagactttcGataaataccttctgtataca	5	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72146772G>A	ENST00000356056.5	-	35	6764	c.6292C>T	c.(6292-6294)Cga>Tga	p.R2098*	MYO9A_ENST00000444904.1_Nonsense_Mutation_p.R2079*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.R2169*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.R2098*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2098	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAGACTTTCGATAAATACCT	0.373													False	0	False	15:72146772	0	A	72146772	G	A	72146772	4	1	88	1	0	0	0	0	0	1	0	0	10151	1066	37	1	1386	1	MYO9A	15	72146772	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24177	72146772	30384620	14959	22671											
MYO9A	4649	broad.mit.edu	37	chr15	72146819	72146819	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcatttcaatgtagtttatgAgcttttccactactaaagga	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72146819A>T	ENST00000356056.5	-	35	6717	c.6245T>A	c.(6244-6246)cTc>cAc	p.L2082H	MYO9A_ENST00000444904.1_Missense_Mutation_p.L2063H|MYO9A_ENST00000424560.1_Missense_Mutation_p.L2153H|MYO9A_ENST00000564571.1_Missense_Mutation_p.L2082H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2082	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTAGTTTATGAGCTTTTCCAC	0.408													False	0	False	15:72146819	0	T	72146819	A	T	72146819	3	4	88	1	0	0	0	0	1	0	0	0	10151	304	11	5	1433	5	MYO9A	15	72146819	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47	72146819	30384573	14960	22672											
MYO9A	4649	broad.mit.edu	37	chr15	72176078	72176078	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatcttagctctctgaggtCtgtttaaagaaataaaggta	8	6	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72176078C>T	ENST00000356056.5	-	28	5728		c.e28-1		MYO9A_ENST00000444904.1_Splice_Site|MYO9A_ENST00000424560.1_Splice_Site|MYO9A_ENST00000564571.1_Splice_Site	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTCTGAGGTCTGTTTAAAGA	0.368													False	0	False	15:72176078	0	T	72176078	C	T	72176078	5	4	88	1	0	0	0	0	0	0	1	0	10151	927	32	2	2451	2	MYO9A	15	72176078	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29259	72176078	30355314	14961	22673											
MYO9A	4649	broad.mit.edu	37	chr15	72191130	72191130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacaccactctggctttgGgctctctcctgctgcttgtt	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72191130G>A	ENST00000356056.5	-	25	4186	c.3714C>T	c.(3712-3714)gcC>gcT	p.A1238A	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Silent_p.A1219A|MYO9A_ENST00000566885.1_Silent_p.A858A|MYO9A_ENST00000424560.1_Silent_p.A1238A|MYO9A_ENST00000564571.1_Silent_p.A1238A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1238	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGGCTTTGGGCTCTCTCCT	0.473													False	0	True	15:72191130	0	A	72191130	G	A	72191130	2	1	88	1	0	0	0	0	0	0	0	1	10151	1219	43	2		2	MYO9A	15	72191130	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15052	72191130	30340262	14962	22674											
MYO9A	4649	broad.mit.edu	37	chr15	72192062	72192062	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcctctacatgttgattGcaaaaggataatttttttcc	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72192062G>A	ENST00000356056.5	-	24	3908	c.3436C>T	c.(3436-3438)Caa>Taa	p.Q1146*	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.Q1127*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.Q766*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.Q1146*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.Q1146*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1146	IQ 5.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATGTTGATTGCAAAAGGATA	0.368													False	0	False	15:72192062	0	A	72192062	G	A	72192062	4	1	88	1	0	0	0	0	0	1	0	0	10151	1328	46	2	4286	2	MYO9A	15	72192062	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	932	72192062	30339330	14963	22675											
MYO9A	4649	broad.mit.edu	37	chr15	72208782	72208782	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagagacttggtaatgcgatCttgtagtgtcagtcttgtca	11	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72208782C>T	ENST00000356056.5	-	19	3086	c.2614G>A	c.(2614-2616)Gat>Aat	p.D872N	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.D853N|MYO9A_ENST00000566885.1_Missense_Mutation_p.D492N|MYO9A_ENST00000424560.1_Missense_Mutation_p.D872N|MYO9A_ENST00000564571.1_Missense_Mutation_p.D872N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	872					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTAATGCGATCTTGTAGTGTC	0.338													False	0	False	15:72208782	0	T	72208782	C	T	72208782	3	4	88	1	0	0	0	0	1	0	0	0	10151	913	32	2	5128	2	MYO9A	15	72208782	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16720	72208782	30322610	14964	22676											
MYO9A	4649	broad.mit.edu	37	chr15	72286859	72286859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagaagtgcatgattaattCgaaaaactatccagtcaaac	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72286859C>T	ENST00000356056.5	-	10	2010	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.R494Q|MYO9A_ENST00000566885.1_Missense_Mutation_p.R108Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.R513Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.R513Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	513	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATGATTAATTCGAAAAACTAT	0.338													False	0	False	15:72286859	0	T	72286859	C	T	72286859	3	4	88	1	0	0	0	0	1	0	0	0	10151	884	31	1	6240	1	MYO9A	15	72286859	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78077	72286859	30244533	14965	22677											
MYO9A	4649	broad.mit.edu	37	chr15	72338363	72338363	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttaataactattagaataCtgccaacataggtataaatt	6	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72338363C>A	ENST00000356056.5	-	2	1014	c.542G>T	c.(541-543)aGt>aTt	p.S181I	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.S181I|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000424560.1_Missense_Mutation_p.S181I|MYO9A_ENST00000564571.1_Missense_Mutation_p.S181I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	181	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TATTAGAATACTGCCAACATA	0.323													False	0	False	15:72338363	0	A	72338363	C	A	72338363	3	1	88	1	0	0	0	0	1	0	0	0	10151	565	20	3	7268	3	MYO9A	15	72338363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51504	72338363	30193029	14966	22678											
SENP8	123228	broad.mit.edu	37	chr15	72432323	72432323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagcttttttcattatgattCccatagcaggagcaactcag	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72432323C>T	ENST00000544411.1	+	3	846	c.359C>T	c.(358-360)tCc>tTc	p.S120F	SENP8_ENST00000340912.4_Missense_Mutation_p.S120F|SENP8_ENST00000544171.1_Missense_Mutation_p.S120F|SENP8_ENST00000542035.2_Missense_Mutation_p.S120F	NM_001172109.1|NM_001172110.1	NP_001165580.1|NP_001165581.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	120	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						CATTATGATTCCCATAGCAGG	0.433													False	0	True	15:72432323	0	T	72432323	C	T	72432323	3	4	88	1	0	0	0	0	1	0	0	0	14133	855	30	2	361	2	SENP8	15	72432323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93960	72432323	30099069	14967	22679											
SENP8	123228	broad.mit.edu	37	chr15	72432577	72432577	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaggggagaatggaaagatCtcattaccacacttgctaaa	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72432577C>A	ENST00000544411.1	+	3	1100	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	SENP8_ENST00000340912.4_Missense_Mutation_p.L205I|SENP8_ENST00000544171.1_Missense_Mutation_p.L205I|SENP8_ENST00000542035.2_Missense_Mutation_p.L205I	NM_001172109.1|NM_001172110.1	NP_001165580.1|NP_001165581.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	205					proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						ATGGAAAGATCTCATTACCAC	0.448													False	0	False	15:72432577	0	A	72432577	C	A	72432577	3	1	88	1	0	0	0	0	1	0	0	0	14133	913	32	3	615	3	SENP8	15	72432577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254	72432577	30098815	14968	22680											
GRAMD2	196996	broad.mit.edu	37	chr15	72455661	72455661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcctcagctccccagtgCtcctgggctcctcctccagc	9	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72455661C>T	ENST00000309731.7	-	10	915	c.902G>A	c.(901-903)aGc>aAc	p.S301N	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	301						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CTCCCCAGTGCTCCTGGGCTC	0.577													False	0	False	15:72455661	0	T	72455661	C	T	72455661	3	4	88	1	0	0	0	0	1	0	0	0	6797	797	28	2	174	2	GRAMD2	15	72455661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23084	72455661	30075731	14969	22681											
PARP6	56965	broad.mit.edu	37	chr15	72546819	72546819	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatctcccgaatagacaTcacactatccagagctttct	6	13	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72546819T>G	ENST00000569795.1	-	15	1855	c.1168A>C	c.(1168-1170)Atg>Ctg	p.M390L	PARP6_ENST00000260376.7_Missense_Mutation_p.M390L|PARP6_ENST00000287196.9_Missense_Mutation_p.M390L|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	390							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CGAATAGACATCACACTATCC	0.443													False	0	False	15:72546819	0	G	72546819	T	G	72546819	3	3	88	1	0	0	0	0	1	0	0	0	11532	1435	50	4	764	4	PARP6	15	72546819	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	91158	72546819	29984573	14970	22682											
PARP6	56965	broad.mit.edu	37	chr15	72551961	72551961	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgattacctgaacgaggaaTccatactccagagtgggaat	10	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72551961T>C	ENST00000569795.1	-	11	1485	c.798A>G	c.(796-798)ggA>ggG	p.G266G	PARP6_ENST00000260376.7_Silent_p.G266G|PARP6_ENST00000287196.9_Silent_p.G266G|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	266							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GAACGAGGAATCCATACTCCA	0.493													False	0	False	15:72551961	0	C	72551961	T	C	72551961	2	2	88	1	0	0	0	0	0	0	0	1	11532	1422	50	4		4	PARP6	15	72551961	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5142	72551961	29979431	14971	22683											
PARP6	56965	broad.mit.edu	37	chr15	72557756	72557756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtactagccccacttacatCgaggaagctgatgttgatgt	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72557756C>T	ENST00000569795.1	-	6	922	c.235G>A	c.(235-237)Gat>Aat	p.D79N	PARP6_ENST00000260376.7_Missense_Mutation_p.D79N|PARP6_ENST00000287196.9_Missense_Mutation_p.D79N|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	79							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CCACTTACATCGAGGAAGCTG	0.468													False	0	False	15:72557756	0	T	72557756	C	T	72557756	3	4	88	1	0	0	0	0	1	0	0	0	11532	884	31	1	1733	1	PARP6	15	72557756	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5795	72557756	29973636	14972	22684											
CELF6	60677	broad.mit.edu	37	chr15	72582592	72582592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccccacaaacagctttcgGtcctctggggacaaagccag	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72582592G>A	ENST00000287202.5	-	4	653	c.399C>T	c.(397-399)gaC>gaT	p.D133D	CELF6_ENST00000395258.2_Silent_p.D20D|CELF6_ENST00000567083.1_Silent_p.D133D|CELF6_ENST00000543764.2_Silent_p.D18D|CELF6_ENST00000569547.1_Silent_p.D133D|CELF6_ENST00000539635.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000569311.1_5'UTR|RP11-106M3.3_ENST00000570175.1_RNA	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	133					mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						ACAGCTTTCGGTCCTCTGGGG	0.602													False	0	False	15:72582592	0	A	72582592	G	A	72582592	2	1	88	1	0	0	0	0	0	0	0	1	3243	1252	44	2		2	CELF6	15	72582592	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24836	72582592	29948800	14973	22685											
CELF6	60677	broad.mit.edu	37	chr15	72608191	72608191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggaggacttacccctgGcagggtcttctgctcgtgca	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72608191G>A	ENST00000287202.5	-	2	594	c.340C>T	c.(340-342)Cca>Tca	p.P114S	CELF6_ENST00000567083.1_Missense_Mutation_p.P114S|CELF6_ENST00000569547.1_Missense_Mutation_p.P114S|CELF6_ENST00000539635.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	114	RRM 1.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTTACCCCTGGCAGGGTCTTC	0.637													False	0	False	15:72608191	0	A	72608191	G	A	72608191	3	1	88	1	0	0	0	0	1	0	0	0	3243	1203	42	2	1149	2	CELF6	15	72608191	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25599	72608191	29923201	14974	22686											
TMEM202	338949	broad.mit.edu	37	chr15	72691241	72691241	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggagccacacacccaAgccaccctgtgagtgccacc	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72691241A>C	ENST00000341689.3	+	2	383	c.329A>C	c.(328-330)aAg>aCg	p.K110T	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	110						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CACACACCCAAGCCACCCTGT	0.517													False	0	False	15:72691241	0	C	72691241	A	C	72691241	3	2	88	1	0	0	0	0	1	0	0	0	16209	72	3	4	335	4	TMEM202	15	72691241	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83050	72691241	29840151	14975	22687											
ARIH1	25820	broad.mit.edu	37	chr15	72853880	72853880	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatttaataacaaataGctttgtagaggtaagtgatt	8	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72853880G>T	ENST00000379887.4	+	6	1108	c.794G>T	c.(793-795)aGc>aTc	p.S265I		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	265					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						ATAACAAATAGCTTTGTAGAG	0.259													False	0	False	15:72853880	0	T	72853880	G	T	72853880	3	4	88	1	0	0	0	0	1	0	0	0	925	971	34	3	816	3	ARIH1	15	72853880	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162639	72853880	29677512	14976	22688											
ARIH1	25820	broad.mit.edu	37	chr15	72875582	72875582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgacgaagggttttgttacaGcatgtgcatgaaggctatga	13	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72875582G>T	ENST00000379887.4	+	14	1937	c.1623G>T	c.(1621-1623)caG>caT	p.Q541H	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	541					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TTTTGTTACAGCATGTGCATG	0.373													False	0	False	15:72875582	0	T	72875582	G	T	72875582	3	4	88	1	0	0	0	0	1	0	0	0	925	962	34	3	1677	3	ARIH1	15	72875582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21702	72875582	29655810	14977	22689											
GOLGA6B	55889	broad.mit.edu	37	chr15	72953649	72953649	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccaccggcggttacagcaGaccataaaggagcgggcgct	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72953649G>T	ENST00000421285.3	+	8	609	c.609G>T	c.(607-609)caG>caT	p.Q203H		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	203										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GGTTACAGCAGACCATAAAGG	0.587													False	0	False	15:72953649	0	T	72953649	G	T	72953649	3	4	88	1	0	0	0	0	1	0	0	0	6603	933	33	3	639	3	GOLGA6B	15	72953649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78067	72953649	29577743	14978	22690											
BBS4	585	broad.mit.edu	37	chr15	72987519	72987519	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actacttatttcatttcagaGaactcaatttcctgtatcta	3	9	4	1	rs113994184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72987519G>T	ENST00000268057.4	+	2	67	c.26G>T	c.(25-27)aGa>aTa	p.R9I	BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000542334.1_Intron|BBS4_ENST00000539603.1_5'UTR|BBS4_ENST00000395205.2_Splice_Site_p.R17I	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	9	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TCATTTCAGAGAACTCAATTT	0.353									Bardet-Biedl syndrome				False	0	False	15:72987519	0	T	72987519	G	T	72987519	5	4	88	1	0	0	0	0	0	0	1	0	1343	956	33	3	32	3	BBS4	15	72987519	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33870	72987519	29543873	14979	22691											
BBS4	585	broad.mit.edu	37	chr15	73029167	73029167	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcactggtctggaccaAaccagttaaagatcccaaat	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73029167A>G	ENST00000268057.4	+	15	1354	c.1313A>G	c.(1312-1314)aAa>aGa	p.K438R	BBS4_ENST00000542334.1_Missense_Mutation_p.K266R|BBS4_ENST00000539603.1_Missense_Mutation_p.K426R|BBS4_ENST00000395205.2_Missense_Mutation_p.K446R	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	438	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GTCTGGACCAAACCAGTTAAA	0.507									Bardet-Biedl syndrome				False	0	True	15:73029167	0	G	73029167	A	G	73029167	3	3	88	1	0	0	0	0	1	0	0	0	1343	14	1	4	1371	4	BBS4	15	73029167	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41648	73029167	29502225	14980	22692											
ADPGK	83440	broad.mit.edu	37	chr15	73045191	73045191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactgggtgagaaataacaGctcctgttcattcagcccaa	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73045191G>A	ENST00000311669.8	-	7	1075	c.982C>T	c.(982-984)Ctg>Ttg	p.L328L	ADPGK_ENST00000456471.2_Silent_p.L54L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	329	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						AGAAATAACAGCTCCTGTTCA	0.493													False	0	False	15:73045191	0	A	73045191	G	A	73045191	2	1	88	1	0	0	0	0	0	0	0	1	330	962	34	2		2	ADPGK	15	73045191	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16024	73045191	29486201	14981	22693											
NEO1	4756	broad.mit.edu	37	chr15	73409160	73409160	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggccactgttgagagtcttgGaactattatcagtagaacag	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73409160G>T	ENST00000339362.5	+	3	857	c.410G>T	c.(409-411)gGa>gTa	p.G137V	NEO1_ENST00000261908.6_Missense_Mutation_p.G137V|NEO1_ENST00000558964.1_Missense_Mutation_p.G137V|NEO1_ENST00000560262.1_Missense_Mutation_p.G137V			Q92859	NEO1_HUMAN	neogenin 1	137	Ig-like C2-type 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAGAGTCTTGGAACTATTATC	0.343													False	0	False	15:73409160	0	T	73409160	G	T	73409160	3	4	88	1	0	0	0	0	1	0	0	0	10404	1174	41	3	416	3	NEO1	15	73409160	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	363969	73409160	29122232	14982	22694											
NEO1	4756	broad.mit.edu	37	chr15	73541462	73541462	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgcctacctccatcacTgttacgtgggaaacaccagt	8	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73541462T>C	ENST00000339362.5	+	11	2115	c.1668T>C	c.(1666-1668)acT>acC	p.T556T	NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000261908.6_Silent_p.T556T|NEO1_ENST00000558964.1_Silent_p.T556T|NEO1_ENST00000560262.1_Silent_p.T556T			Q92859	NEO1_HUMAN	neogenin 1	556	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCTCCATCACTGTTACGTGGG	0.428													False	0	False	15:73541462	0	C	73541462	T	C	73541462	2	2	88	1	0	0	0	0	0	0	0	1	10404	1567	55	4		4	NEO1	15	73541462	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	132302	73541462	28989930	14983	22695											
NEO1	4756	broad.mit.edu	37	chr15	73542036	73542036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagtttccacaccagAtgttgctgttcgaacattgt	9	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73542036A>G	ENST00000339362.5	+	12	2315	c.1868A>G	c.(1867-1869)gAt>gGt	p.D623G	NEO1_ENST00000261908.6_Missense_Mutation_p.D623G|NEO1_ENST00000558964.1_Missense_Mutation_p.D623G|NEO1_ENST00000560262.1_Missense_Mutation_p.D623G			Q92859	NEO1_HUMAN	neogenin 1	623	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TCCACACCAGATGTTGCTGTT	0.423													False	0	False	15:73542036	0	G	73542036	A	G	73542036	3	3	88	1	0	0	0	0	1	0	0	0	10404	333	12	4	1910	4	NEO1	15	73542036	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	574	73542036	28989356	14984	22696											
HCN4	10021	broad.mit.edu	37	chr15	73616569	73616569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcacgctggctgtgcgCcggccccgggtcagcaggca	15	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73616569C>T	ENST00000261917.3	-	7	2997	c.2004G>A	c.(2002-2004)cgG>cgA	p.R668R		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	668					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGCTGTGCGCCGGCCCCGGG	0.647													False	0	False	15:73616569	0	T	73616569	C	T	73616569	2	4	88	1	0	0	0	0	0	0	0	1	7046	726	26	2		2	HCN4	15	73616569	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74533	73616569	28914823	14985	22697											
HCN4	10021	broad.mit.edu	37	chr15	73621943	73621943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtactggcgccgggaggagtCcagggactggatgagggcag	20	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73621943C>T	ENST00000261917.3	-	4	2554	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	521					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGGGAGGAGTCCAGGGACTGG	0.637													False	0	False	15:73621943	0	T	73621943	C	T	73621943	3	4	88	1	0	0	0	0	1	0	0	0	7046	855	30	2	2070	2	HCN4	15	73621943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5374	73621943	28909449	14986	22698											
CD276	80381	broad.mit.edu	37	chr15	73994861	73994861	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcgcgtgcgtgtggcGgacgagggcagcttcacctg	17	12	1	0	rs145054349	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73994861G>A	ENST00000318443.5	+	3	647	c.345G>A	c.(343-345)gcG>gcA	p.A115A	CD276_ENST00000561213.1_Silent_p.A115A|CD276_ENST00000318424.5_Silent_p.A115A|CD276_ENST00000537340.2_5'UTR|CD276_ENST00000564751.1_Silent_p.A115A	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	115	Ig-like V-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TGCGTGTGGCGGACGAGGGCA	0.697													False	0	False	15:73994861	0	A	73994861	G	A	73994861	2	1	88	1	0	0	0	0	0	0	0	1	3015	1103	39	1		1	CD276	15	73994861	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	372918	73994861	28536531	14987	22699											
CD276	80381	broad.mit.edu	37	chr15	73995295	73995295	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatggccaacgagcagggcTtgtttgatgtgcacagcatc	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73995295T>G	ENST00000318443.5	+	4	903	c.601T>G	c.(601-603)Ttg>Gtg	p.L201V	CD276_ENST00000561213.1_Missense_Mutation_p.L201V|CD276_ENST00000318424.5_Intron|CD276_ENST00000537340.2_Missense_Mutation_p.L55V|CD276_ENST00000564751.1_Intron	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	201	Ig-like C2-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CGAGCAGGGCTTGTTTGATGT	0.632													False	0	False	15:73995295	0	G	73995295	T	G	73995295	3	3	88	1	0	0	0	0	1	0	0	0	3015	1606	56	4	611	4	CD276	15	73995295	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	434	73995295	28536097	14988	22700											
CD276	80381	broad.mit.edu	37	chr15	74003513	74003513	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactctgacagcaaagaaggTaaagacacctgggcttgagg	12	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74003513T>C	ENST00000318443.5	+	9	1884		c.e9+2		CD276_ENST00000561213.1_Silent_p.G528G|CD276_ENST00000318424.5_Splice_Site|CD276_ENST00000537340.2_Splice_Site|CD276_ENST00000564751.1_Splice_Site	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule						cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GCAAAGAAGGTAAAGACACCT	0.532													False	0	True	15:74003513	0	C	74003513	T	C	74003513	5	2	88	1	0	0	0	0	0	0	1	0	3015	1652	57	4	1614	4	CD276	15	74003513	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8218	74003513	28527879	14989	22701											
PML	5371	broad.mit.edu	37	chr15	74315645	74315645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgctctgccgcctgcGccaggaggagccccagagcc	14	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74315645G>A	ENST00000565898.1	+	3	1163	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	PML_ENST00000569965.1_Missense_Mutation_p.R360H|PML_ENST00000395132.2_Missense_Mutation_p.R360H|PML_ENST00000354026.6_Missense_Mutation_p.R360H|PML_ENST00000563500.1_Missense_Mutation_p.R360H|PML_ENST00000436891.3_Missense_Mutation_p.R360H|PML_ENST00000359928.4_Missense_Mutation_p.R360H|PML_ENST00000569477.1_Missense_Mutation_p.R360H|PML_ENST00000435786.2_Missense_Mutation_p.R360H|PML_ENST00000569161.1_3'UTR|PML_ENST00000567543.1_Missense_Mutation_p.R360H|PML_ENST00000395135.3_Missense_Mutation_p.R360H|PML_ENST00000268059.6_Missense_Mutation_p.R360H|PML_ENST00000268058.3_Missense_Mutation_p.R360H|PML_ENST00000564428.1_Missense_Mutation_p.R360H			P29590	PML_HUMAN	promyelocytic leukemia	360					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGCCGCCTGCGCCAGGAGGAG	0.677			T	"RARA, PAX5"	"APL, ALL"								False	0	False	15:74315645	0	A	74315645	G	A	74315645	3	1	88	1	0	0	0	0	1	0	0	0	12204	1087	38	1	1089	1	PML	15	74315645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	312132	74315645	28215747	14990	22702											
PML	5371	broad.mit.edu	37	chr15	74325728	74325728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctgcccaacagcaacCacgtggccagtggcgccggg	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74325728C>T	ENST00000565898.1	+	5	1570	c.1486C>T	c.(1486-1488)Cac>Tac	p.H496Y	PML_ENST00000569965.1_Missense_Mutation_p.H544Y|PML_ENST00000436891.3_Missense_Mutation_p.H544Y|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.H496Y|PML_ENST00000563500.1_Missense_Mutation_p.H496Y|PML_ENST00000359928.4_Intron|PML_ENST00000569477.1_Missense_Mutation_p.H544Y|PML_ENST00000435786.2_Missense_Mutation_p.H544Y|PML_ENST00000567543.1_Intron|PML_ENST00000395135.3_Missense_Mutation_p.H544Y|PML_ENST00000268059.6_Missense_Mutation_p.H544Y|PML_ENST00000268058.3_Missense_Mutation_p.H544Y|PML_ENST00000564428.1_Missense_Mutation_p.H496Y			P29590	PML_HUMAN	promyelocytic leukemia	544					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAACAGCAACCACGTGGCCAG	0.667			T	"RARA, PAX5"	"APL, ALL"								False	0	False	15:74325728	0	T	74325728	C	T	74325728	3	4	88	1	0	0	0	0	1	0	0	0	12204	594	21	2	1652	2	PML	15	74325728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10083	74325728	28205664	14991	22703											
ISLR2	57611	broad.mit.edu	37	chr15	74425273	74425273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacgacgcttagtctgtccGcgaacaagatcactgtgctg	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74425273G>A	ENST00000361742.3	+	4	947	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.A60T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	60					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TAGTCTGTCCGCGAACAAGAT	0.632													False	0	False	15:74425273	0	A	74425273	G	A	74425273	3	1	88	1	0	0	0	0	1	0	0	0	7909	1087	38	1	180	1	ISLR2	15	74425273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99545	74425273	28106119	14992	22704											
ISLR	3671	broad.mit.edu	37	chr15	74467458	74467458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggcacacaatgagatcCgcacggtggccgccggagcc	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74467458C>T	ENST00000249842.3	+	2	616	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.R87C	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	87					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CAATGAGATCCGCACGGTGGC	0.632													False	0	False	15:74467458	0	T	74467458	C	T	74467458	3	4	88	1	0	0	0	0	1	0	0	0	7908	652	23	1	261	1	ISLR	15	74467458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42185	74467458	28063934	14993	22705											
ISLR	3671	broad.mit.edu	37	chr15	74467777	74467777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcatcgtgtggctcaagaCatgggccctgaccacggccg	14	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74467777C>T	ENST00000249842.3	+	2	935	c.578C>T	c.(577-579)aCa>aTa	p.T193I	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.T193I	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	193	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGGCTCAAGACATGGGCCCTG	0.657													False	0	False	15:74467777	0	T	74467777	C	T	74467777	3	4	88	1	0	0	0	0	1	0	0	0	7908	478	17	2	580	2	ISLR	15	74467777	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319	74467777	28063615	14994	22706											
SEMA7A	8482	broad.mit.edu	37	chr15	74708920	74708920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacgcccctgctcaccctgCacaactgggccacacgggac	9	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74708920C>T	ENST00000261918.4	-	7	1345	c.797G>A	c.(796-798)tGc>tAc	p.C266Y	SEMA7A_ENST00000543145.2_Missense_Mutation_p.C252Y|SEMA7A_ENST00000542748.1_Missense_Mutation_p.C101Y	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	266	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GCTCACCCTGCACAACTGGGC	0.542													False	0	False	15:74708920	0	T	74708920	C	T	74708920	3	4	88	1	0	0	0	0	1	0	0	0	14124	710	25	2	1235	2	SEMA7A	15	74708920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241143	74708920	27822472	14995	22707											
CLK3	1198	broad.mit.edu	37	chr15	74911554	74911554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctagatgcatcactgtaagcGataccgctcccctgaaccag	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74911554G>A	ENST00000395066.3	+	2	922	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	CLK3_ENST00000348245.3_Missense_Mutation_p.R6Q|CLK3_ENST00000345005.4_Missense_Mutation_p.R6Q|CLK3_ENST00000352989.5_Missense_Mutation_p.R6Q	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	154						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CACTGTAAGCGATACCGCTCC	0.602													False	0	False	15:74911554	0	A	74911554	G	A	74911554	3	1	88	1	0	0	0	0	1	0	0	0	3561	1058	37	1	467	1	CLK3	15	74911554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202634	74911554	27619838	14996	22708											
CLK3	1198	broad.mit.edu	37	chr15	74911640	74911640	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaacatgaagggagactgCgatacccgtcccgaagggag	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74911640C>T	ENST00000395066.3	+	2	1008	c.547C>T	c.(547-549)Cga>Tga	p.R183*	CLK3_ENST00000348245.3_Nonsense_Mutation_p.R35*|CLK3_ENST00000345005.4_Nonsense_Mutation_p.R35*|CLK3_ENST00000352989.5_Nonsense_Mutation_p.R35*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	183	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGGGAGACTGCGATACCCGTC	0.577													False	0	False	15:74911640	0	T	74911640	C	T	74911640	4	4	88	1	0	0	0	0	0	1	0	0	3561	760	27	1	553	1	CLK3	15	74911640	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	74911640	27619752	14997	22709											
EDC3	80153	broad.mit.edu	37	chr15	74948392	74948392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagttgcctgatttgggtGcctgctactagatgaccctg	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74948392G>A	ENST00000315127.4	-	4	683	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	EDC3_ENST00000426797.3_Missense_Mutation_p.H168Y|EDC3_ENST00000568176.1_Missense_Mutation_p.H168Y	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	168					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGATTTGGGTGCCTGCTACTA	0.438													False	0	False	15:74948392	0	A	74948392	G	A	74948392	3	1	88	1	0	0	0	0	1	0	0	0	4937	1319	46	2	1040	2	EDC3	15	74948392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36752	74948392	27583000	14998	22710											
CYP1A1	1543	broad.mit.edu	37	chr15	75014721	75014721	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agggttgggtaggtagcgaaGaatagggatgaagtcagctg	18	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75014721G>T	ENST00000379727.3	-	2	916	c.718C>A	c.(718-720)Ctt>Att	p.L240I	CYP1A1_ENST00000567032.1_Missense_Mutation_p.L240I|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000395048.2_Missense_Mutation_p.L240I|CYP1A1_ENST00000395049.4_Missense_Mutation_p.L240I			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	240					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AGGTAGCGAAGAATAGGGATG	0.473									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				False	0	False	15:75014721	0	T	75014721	G	T	75014721	3	4	88	1	0	0	0	0	1	0	0	0	4174	942	33	3	844	3	CYP1A1	15	75014721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66329	75014721	27516671	14999	22711											
CYP1A2	1544	broad.mit.edu	37	chr15	75042451	75042451	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgatggccagagcttgacCttcagcacagactctggacc	10	13	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75042451C>A	ENST00000343932.4	+	2	435	c.372C>A	c.(370-372)acC>acA	p.T124T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	124					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AGAGCTTGACCTTCAGCACAG	0.642													False	0	False	15:75042451	0	A	75042451	C	A	75042451	2	1	88	1	0	0	0	0	0	0	0	1	4175	668	24	3		3	CYP1A2	15	75042451	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27730	75042451	27488941	15000	22712											
CYP1A2	1544	broad.mit.edu	37	chr15	75044494	75044494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggcagggagcggcggcccCggctctctgacagaccccag	15	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75044494C>T	ENST00000343932.4	+	5	1135	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	358					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GCGGCGGCCCCGGCTCTCTGA	0.592													False	0	True	15:75044494	0	T	75044494	C	T	75044494	3	4	88	1	0	0	0	0	1	0	0	0	4175	643	23	1	1086	1	CYP1A2	15	75044494	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2043	75044494	27486898	15001	22713											
CYP1A2	1544	broad.mit.edu	37	chr15	75044545	75044545	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggccttcatcctggagAccttccgacactcctccttc	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75044545A>G	ENST00000343932.4	+	5	1186	c.1123A>G	c.(1123-1125)Acc>Gcc	p.T375A		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	375					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CATCCTGGAGACCTTCCGACA	0.592													False	0	False	15:75044545	0	G	75044545	A	G	75044545	3	3	88	1	0	0	0	0	1	0	0	0	4175	275	10	4	1137	4	CYP1A2	15	75044545	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51	75044545	27486847	15002	22714											
LMAN1L	79748	broad.mit.edu	37	chr15	75114202	75114202	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgccagattccatccacCccagggaggggtggccacct	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75114202C>T	ENST00000309664.5	+	10	1231	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	LMAN1L_ENST00000379709.3_Silent_p.T352T|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	364						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCATCCACCCCAGGGAGGG	0.607													False	0	True	15:75114202	0	T	75114202	C	T	75114202	2	4	88	1	0	0	0	0	0	0	0	1	8890	610	22	2		2	LMAN1L	15	75114202	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69657	75114202	27417190	15003	22715											
LMAN1L	79748	broad.mit.edu	37	chr15	75116790	75116790	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctacctcctcattcagacTgtaggcttcttcggctacgt	7	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75116790T>C	ENST00000309664.5	+	13	1561	c.1422T>C	c.(1420-1422)acT>acC	p.T474T	LMAN1L_ENST00000379709.3_Silent_p.T462T|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	474						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATTCAGACTGTAGGCTTCT	0.597													False	0	False	15:75116790	0	C	75116790	T	C	75116790	2	2	88	1	0	0	0	0	0	0	0	1	8890	1567	55	4		4	LMAN1L	15	75116790	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2588	75116790	27414602	15004	22716											
ULK3	25989	broad.mit.edu	37	chr15	75131059	75131059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagacgatggccttgagctCctcagcccgggacacgtact	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75131059C>T	ENST00000440863.2	-	10	1118	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ULK3_ENST00000569437.1_Missense_Mutation_p.E343K|ULK3_ENST00000568667.1_Missense_Mutation_p.E354K	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	343	MIT 1.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						GCCTTGAGCTCCTCAGCCCGG	0.627													False	0	False	15:75131059	0	T	75131059	C	T	75131059	3	4	88	1	0	0	0	0	1	0	0	0	17061	864	30	2	419	2	ULK3	15	75131059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14269	75131059	27400333	15005	22717											
ULK3	25989	broad.mit.edu	37	chr15	75133792	75133792	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggagctcagtagaatgttCtgtggcttcagatccaggtg	13	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75133792C>T	ENST00000440863.2	-	4	514	c.423G>A	c.(421-423)caG>caA	p.Q141Q	ULK3_ENST00000569437.1_Silent_p.Q141Q|ULK3_ENST00000568667.1_Silent_p.Q152Q	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	141	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						GTAGAATGTTCTGTGGCTTCA	0.537													False	0	False	15:75133792	0	T	75133792	C	T	75133792	2	4	88	1	0	0	0	0	0	0	0	1	17061	912	32	2		2	ULK3	15	75133792	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2733	75133792	27397600	15006	22718											
MPI	4351	broad.mit.edu	37	chr15	75190002	75190002	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcttcattggggccaaTgagagtgtctcactgaagct	12	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75190002T>C	ENST00000352410.4	+	8	1270	c.1203T>C	c.(1201-1203)aaT>aaC	p.N401N	MPI_ENST00000566377.1_3'UTR|MPI_ENST00000323744.6_Silent_p.N340N|MPI_ENST00000563786.1_Silent_p.N381N|MPI_ENST00000535694.1_Silent_p.N351N			P34949	MPI_HUMAN	mannose phosphate isomerase	401					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TTGGGGCCAATGAGAGTGTCT	0.567													False	0	False	15:75190002	0	C	75190002	T	C	75190002	2	2	88	1	0	0	0	0	0	0	0	1	9796	1461	51	4		4	MPI	15	75190002	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56210	75190002	27341390	15007	22719											
SCAMP5	192683	broad.mit.edu	37	chr15	75309056	75309056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcacaccctgctcctacGtctgctggtttcggcccatt	7	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75309056G>A	ENST00000361900.6	+	5	466	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	SCAMP5_ENST00000562212.1_Missense_Mutation_p.V87I|SCAMP5_ENST00000425597.3_Missense_Mutation_p.V87I|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000545456.1_Intron	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	87					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CTGCTCCTACGTCTGCTGGTT	0.587													False	0	False	15:75309056	0	A	75309056	G	A	75309056	3	1	88	1	0	0	0	0	1	0	0	0	13954	1145	40	1	269	1	SCAMP5	15	75309056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119054	75309056	27222336	15008	22720											
SCAMP5	192683	broad.mit.edu	37	chr15	75310804	75310804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggaacgaacattggctcGgcggtggtgatgctaattcc	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75310804G>A	ENST00000361900.6	+	7	648	c.441G>A	c.(439-441)tcG>tcA	p.S147S	SCAMP5_ENST00000568081.1_Silent_p.S80S|SCAMP5_ENST00000562212.1_Silent_p.S155S|SCAMP5_ENST00000425597.3_Silent_p.S147S|SCAMP5_ENST00000545456.1_Silent_p.S76S	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	147					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ACATTGGCTCGGCGGTGGTGA	0.582													False	0	False	15:75310804	0	A	75310804	G	A	75310804	2	1	88	1	0	0	0	0	0	0	0	1	13954	1103	39	1		1	SCAMP5	15	75310804	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1748	75310804	27220588	15009	22721											
C15orf39	56905	broad.mit.edu	37	chr15	75499684	75499684	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcagagcctgtgaggcCtgcacaggaagccgaagaga	14	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75499684C>A	ENST00000360639.2	+	2	1615	c.1295C>A	c.(1294-1296)cCt>cAt	p.P432H	C15orf39_ENST00000567617.1_Missense_Mutation_p.P432H|C15orf39_ENST00000394987.4_Missense_Mutation_p.P432H			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	432										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCTGTGAGGCCTGCACAGGAA	0.642													False	0	False	15:75499684	0	A	75499684	C	A	75499684	3	1	88	1	0	0	0	0	1	0	0	0	1802	681	24	3	1297	3	C15orf39	15	75499684	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	188880	75499684	27031708	15010	22722											
C15orf39	56905	broad.mit.edu	37	chr15	75499830	75499830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcactgcccccctgtgccCgggagtgccagtctcttcca	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75499830C>T	ENST00000360639.2	+	2	1761	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	C15orf39_ENST00000567617.1_Missense_Mutation_p.R481W|C15orf39_ENST00000394987.4_Missense_Mutation_p.R481W			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	481										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCTGTGCCCGGGAGTGCCA	0.637													False	0	True	15:75499830	0	T	75499830	C	T	75499830	3	4	88	1	0	0	0	0	1	0	0	0	1802	643	23	1	1443	1	C15orf39	15	75499830	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146	75499830	27031562	15011	22723											
C15orf39	56905	broad.mit.edu	37	chr15	75500244	75500244	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagatctgccaggcctgAaaaagatagacacagaagca	10	9	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75500244A>G	ENST00000360639.2	+	2	2175	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	C15orf39_ENST00000567617.1_Missense_Mutation_p.K619E|C15orf39_ENST00000394987.4_Missense_Mutation_p.K619E			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	619										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCCAGGCCTGAAAAAGATAGA	0.567													False	0	True	15:75500244	0	G	75500244	A	G	75500244	3	3	88	1	0	0	0	0	1	0	0	0	1802	247	9	4	1857	4	C15orf39	15	75500244	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	414	75500244	27031148	15012	22724											
MAN2C1	4123	broad.mit.edu	37	chr15	75653521	75653521	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcccggttgttggccacGgtcttcagcacctagacagg	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75653521G>A	ENST00000565683.1	-	12	1337	c.1326C>T	c.(1324-1326)acC>acT	p.T442T	MAN2C1_ENST00000267978.5_Silent_p.T442T|MAN2C1_ENST00000563622.1_Silent_p.T343T|MAN2C1_ENST00000569482.1_Silent_p.T442T	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	442					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTTGGCCACGGTCTTCAGCA	0.657													False	0	False	15:75653521	0	A	75653521	G	A	75653521	2	1	88	1	0	0	0	0	0	0	0	1	9285	1103	39	1		1	MAN2C1	15	75653521	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153277	75653521	26877871	15013	22725											
SIN3A	25942	broad.mit.edu	37	chr15	75682033	75682033	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagtttgtccatggtaaagGcaatgtaggcatgaatggtg	13	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75682033G>T	ENST00000394947.3	-	16	3295	c.2981C>A	c.(2980-2982)gCc>gAc	p.A994D	SIN3A_ENST00000394949.4_Missense_Mutation_p.A994D|SIN3A_ENST00000360439.4_Missense_Mutation_p.A994D	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	994					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CATGGTAAAGGCAATGTAGGC	0.498													False	0	False	15:75682033	0	T	75682033	G	T	75682033	3	4	88	1	0	0	0	0	1	0	0	0	14406	1203	42	3	864	3	SIN3A	15	75682033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28512	75682033	26849359	15014	22726											
SIN3A	25942	broad.mit.edu	37	chr15	75684615	75684615	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacgtagctgaatggcagggCtgtcactcttgtctcgcttt	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75684615C>A	ENST00000394947.3	-	15	3133	c.2819G>T	c.(2818-2820)aGc>aTc	p.S940I	SIN3A_ENST00000394949.4_Missense_Mutation_p.S940I|SIN3A_ENST00000360439.4_Missense_Mutation_p.S940I	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	940					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AATGGCAGGGCTGTCACTCTT	0.502													False	0	True	15:75684615	0	A	75684615	C	A	75684615	3	1	88	1	0	0	0	0	1	0	0	0	14406	797	28	3	1030	3	SIN3A	15	75684615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2582	75684615	26846777	15015	22727											
SIN3A	25942	broad.mit.edu	37	chr15	75684652	75684652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttatgcccagcacttcccGttcccattctctctctcggt	5	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75684652G>A	ENST00000394947.3	-	15	3096	c.2782C>T	c.(2782-2784)Cgg>Tgg	p.R928W	SIN3A_ENST00000394949.4_Missense_Mutation_p.R928W|SIN3A_ENST00000360439.4_Missense_Mutation_p.R928W	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	928					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGCACTTCCCGTTCCCATTCT	0.502													False	0	True	15:75684652	0	A	75684652	G	A	75684652	3	1	88	1	0	0	0	0	1	0	0	0	14406	1144	40	1	1067	1	SIN3A	15	75684652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	75684652	26846740	15016	22728											
SNX33	257364	broad.mit.edu	37	chr15	75942240	75942240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcacccgtctaccggcGctacaaacactttgactggc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942240G>A	ENST00000308527.5	+	1	1994	c.797G>A	c.(796-798)cGc>cAc	p.R266H		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	266	PX.				cell communication		phosphatidylinositol binding|protein binding	p.R266H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GTCTACCGGCGCTACAAACAC	0.552													False	0	False	15:75942240	0	A	75942240	G	A	75942240	3	1	88	1	0	0	0	0	1	0	0	0	14983	1087	38	1	799	1	SNX33	15	75942240	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257588	75942240	26589152	15017	22729											
SNX33	257364	broad.mit.edu	37	chr15	75942569	75942569	+	Missense_Mutation	SNP	G	G	A													aggacttgcaggacgtggaaGatcgcgtggacactttcaag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942569G>A	ENST00000308527.5	+	1	2323	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	376	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GGACGTGGAAGATCGCGTGGA	0.592													False	0	False	15:75942569	0	A	75942569	G	A	75942569	3	1	88	1	0	0	0	0	1	0	0	0	14983	942	33	2	1128	2	SNX33	15	75942569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329	75942569	26588823	15018	22730	243	2									
SNX33	257364	broad.mit.edu	37	chr15	75942572	75942572	+	Missense_Mutation	SNP	C	C	T													acttgcaggacgtggaagatCgcgtggacactttcaaggcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942572C>T	ENST00000308527.5	+	1	2326	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	377	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CGTGGAAGATCGCGTGGACAC	0.592													False	0	False	15:75942572	0	T	75942572	C	T	75942572	3	4	88	1	0	0	0	0	1	0	0	0	14983	884	31	1	1131	1	SNX33	15	75942572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	75942572	26588820	15019	22731	243	2									
SNX33	257364	broad.mit.edu	37	chr15	75949349	75949349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgcatgagtgacgagggCcgcatggtgcaggacgaggc	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75949349C>T	ENST00000308527.5	+	2	2715	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	506	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GTGACGAGGGCCGCATGGTGC	0.647													False	0	True	15:75949349	0	T	75949349	C	T	75949349	2	4	88	1	0	0	0	0	0	0	0	1	14983	726	26	2		2	SNX33	15	75949349	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6777	75949349	26582043	15020	22732											
CSPG4	1464	broad.mit.edu	37	chr15	75969039	75969039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagctgcacctcgatggCggatggtaggatgtccacag	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75969039C>T	ENST00000308508.5	-	10	5913	c.5821G>A	c.(5821-5823)Gcc>Acc	p.A1941T	CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1941	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACCTCGATGGCGGATGGTAGG	0.662													False	0	False	15:75969039	0	T	75969039	C	T	75969039	3	4	88	1	0	0	0	0	1	0	0	0	3985	768	27	1	1151	1	CSPG4	15	75969039	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19690	75969039	26562353	15021	22733											
CSPG4	1464	broad.mit.edu	37	chr15	75975290	75975290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcccgttgctgggctgCtcgatggtgtagaccagatc	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75975290C>T	ENST00000308508.5	-	6	4634	c.4542G>A	c.(4540-4542)gaG>gaA	p.E1514E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1514	Gly/Ser-rich (glycosaminoglycan attachment domain).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGCTGGGCTGCTCGATGGTGT	0.692													False	0	False	15:75975290	0	T	75975290	C	T	75975290	2	4	88	1	0	0	0	0	0	0	0	1	3985	796	28	2		2	CSPG4	15	75975290	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6251	75975290	26556102	15022	22734											
CSPG4	1464	broad.mit.edu	37	chr15	75980453	75980453	+	Missense_Mutation	SNP	G	G	A													ctggcgggtagcaacaaatgGgatatcatcttctgtggtct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980453G>A	ENST00000308508.5	-	3	3045	c.2953C>T	c.(2953-2955)Cca>Tca	p.P985S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	985	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCAACAAATGGGATATCATCT	0.577													False	0	True	15:75980453	0	A	75980453	G	A	75980453	3	1	88	1	0	0	0	0	1	0	0	0	3985	1232	43	2	4047	2	CSPG4	15	75980453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5163	75980453	26550939	15023	22735	244	2									
CSPG4	1464	broad.mit.edu	37	chr15	75980460	75980460	+	Silent	SNP	A	A	G													gtagcaacaaatgggatatcAtcttctgtggtctcggagtc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980460A>G	ENST00000308508.5	-	3	3038	c.2946T>C	c.(2944-2946)gaT>gaC	p.D982D		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	982	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATGGGATATCATCTTCTGTGG	0.572													False	0	False	15:75980460	0	G	75980460	A	G	75980460	2	3	88	1	0	0	0	0	0	0	0	1	3985	214	8	4		4	CSPG4	15	75980460	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7	75980460	26550932	15024	22736	244	2									
CSPG4	1464	broad.mit.edu	37	chr15	75980750	75980750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatggggaaggtatagaGtggggagaaatatggtggag	21	0	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980750G>A	ENST00000308508.5	-	3	2748	c.2656C>T	c.(2656-2658)Ctc>Ttc	p.L886F		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	886	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AAGGTATAGAGTGGGGAGAAA	0.602													False	0	False	15:75980750	0	A	75980750	G	A	75980750	3	1	88	1	0	0	0	0	1	0	0	0	3985	1029	36	2	4344	2	CSPG4	15	75980750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	290	75980750	26550642	15025	22737											
CSPG4	1464	broad.mit.edu	37	chr15	75981045	75981045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcagtggctccagccgCagcatccacacagtggctct	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981045C>T	ENST00000308508.5	-	3	2453	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	787	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCTCCAGCCGCAGCATCCACA	0.642													False	0	False	15:75981045	0	T	75981045	C	T	75981045	2	4	88	1	0	0	0	0	0	0	0	1	3985	697	25	2		2	CSPG4	15	75981045	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	295	75981045	26550347	15026	22738											
CSPG4	1464	broad.mit.edu	37	chr15	75981567	75981567	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcccggcaggagaactcggtCgccggctccccaggctggtc	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981567C>T	ENST00000308508.5	-	3	1931	c.1839G>A	c.(1837-1839)gcG>gcA	p.A613A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	613	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGAACTCGGTCGCCGGCTCCC	0.672													False	0	False	15:75981567	0	T	75981567	C	T	75981567	2	4	88	1	0	0	0	0	0	0	0	1	3985	871	31	1		1	CSPG4	15	75981567	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	522	75981567	26549825	15027	22739											
CSPG4	1464	broad.mit.edu	37	chr15	75981992	75981992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcgtgcccctcgggtcaCgctgaacagcacctgggatt	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981992C>T	ENST00000308508.5	-	3	1506	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	472	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCTCGGGTCACGCTGAACAGC	0.662													False	0	False	15:75981992	0	T	75981992	C	T	75981992	3	4	88	1	0	0	0	0	1	0	0	0	3985	536	19	1	5586	1	CSPG4	15	75981992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	425	75981992	26549400	15028	22740											
CSPG4	1464	broad.mit.edu	37	chr15	75982969	75982969	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtgcccccaacaaagAgcccataggggacctctagg	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75982969A>G	ENST00000308508.5	-	3	529	c.437T>C	c.(436-438)cTc>cCc	p.L146P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	146	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCCAACAAAGAGCCCATAGGG	0.647													False	0	False	15:75982969	0	G	75982969	A	G	75982969	3	3	88	1	0	0	0	0	1	0	0	0	3985	304	11	4	6563	4	CSPG4	15	75982969	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	977	75982969	26548423	15029	22741											
C15orf27	123591	broad.mit.edu	37	chr15	76484318	76484318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctccgcagtttgagatcCggcagctgcgcgcgcacctg	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76484318C>T	ENST00000388942.3	+	9	1054	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	260						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GTTTGAGATCCGGCAGCTGCG	0.736													False	0	False	15:76484318	0	T	76484318	C	T	76484318	3	4	88	1	0	0	0	0	1	0	0	0	1797	643	23	1	808	1	C15orf27	15	76484318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	501349	76484318	26047074	15030	22742											
ISL2	64843	broad.mit.edu	37	chr15	76630302	76630302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacctactgcaagcgggactAtgtcaggtgaggccggcggg	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76630302A>G	ENST00000290759.4	+	2	402	c.242A>G	c.(241-243)tAt>tGt	p.Y81C		NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	81	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						AAGCGGGACTATGTCAGGTGA	0.731													False	0	False	15:76630302	0	G	76630302	A	G	76630302	3	3	88	1	0	0	0	0	1	0	0	0	7907	449	16	4	248	4	ISL2	15	76630302	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	145984	76630302	25901090	15031	22743											
SCAPER	49855	broad.mit.edu	37	chr15	76696915	76696915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcatgtaagagtcctgcGgcatgctgcagaaatatggc	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76696915G>A	ENST00000538941.2	-	27	3618	c.2679C>T	c.(2677-2679)gcC>gcT	p.A893A	SCAPER_ENST00000563290.1_Silent_p.A1139A|SCAPER_ENST00000324767.7_Silent_p.A1139A	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1138						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGAGTCCTGCGGCATGCTGCA	0.478													False	0	False	15:76696915	0	A	76696915	G	A	76696915	2	1	88	1	0	0	0	0	0	0	0	1	13958	1103	39	1		1	SCAPER	15	76696915	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66613	76696915	25834477	15032	22744											
SCAPER	49855	broad.mit.edu	37	chr15	77064232	77064232	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagcagatatttcagaagTtcgaacataattgtctcgaa	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77064232T>G	ENST00000538941.2	-	10	1300	c.361A>C	c.(361-363)Act>Cct	p.T121P	SCAPER_ENST00000563290.1_Missense_Mutation_p.T367P|SCAPER_ENST00000324767.7_Missense_Mutation_p.T367P	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	366						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTTCAGAAGTTCGAACATAA	0.363													False	0	False	15:77064232	0	G	77064232	T	G	77064232	3	3	88	1	0	0	0	0	1	0	0	0	13958	1725	60	4	3195	4	SCAPER	15	77064232	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	367317	77064232	25467160	15033	22745											
PSTPIP1	9051	broad.mit.edu	37	chr15	77325208	77325208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgctgtctgcagctccgGtgccctaccagaactattac	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77325208G>A	ENST00000558012.1	+	12	1333	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	PSTPIP1_ENST00000379595.3_Missense_Mutation_p.V282M|PSTPIP1_ENST00000267939.5_Intron|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000559295.1_Intron	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	282					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCAGCTCCGGTGCCCTACCA	0.647													False	0	False	15:77325208	0	A	77325208	G	A	77325208	3	1	88	1	0	0	0	0	1	0	0	0	12797	1261	44	2	890	2	PSTPIP1	15	77325208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	260976	77325208	25206184	15034	22746											
HMG20A	10363	broad.mit.edu	37	chr15	77769918	77769918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaacagaggtaaaggaaCggtctgtttttgacatccct	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77769918C>T	ENST00000381714.3	+	8	1065	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	HMG20A_ENST00000336216.4_Missense_Mutation_p.R213W	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	213					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGTAAAGGAACGGTCTGTTTT	0.333													False	0	False	15:77769918	0	T	77769918	C	T	77769918	3	4	88	1	0	0	0	0	1	0	0	0	7268	527	19	1	659	1	HMG20A	15	77769918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	444710	77769918	24761474	15035	22747											
LINGO1	84894	broad.mit.edu	37	chr15	77907931	77907931	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgggctccacggcgctcacGatgttctcgttgagctccag	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77907931G>A	ENST00000355300.6	-	2	492	c.318C>T	c.(316-318)atC>atT	p.I106I	LINGO1_ENST00000561030.1_Silent_p.I100I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	106					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGGCGCTCACGATGTTCTCGT	0.627													False	0	False	15:77907931	0	A	77907931	G	A	77907931	2	1	88	1	0	0	0	0	0	0	0	1	8867	1048	37	1		1	LINGO1	15	77907931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138013	77907931	24623461	15036	22748											
TBC1D2B	23102	broad.mit.edu	37	chr15	78290595	78290595	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacggatggcctccagctcGgtcagctccagccggacttt	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78290595G>A	ENST00000300584.3	-	13	2798	c.2799C>T	c.(2797-2799)acC>acT	p.T933T	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000409931.3_3'UTR	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	933						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CCTCCAGCTCGGTCAGCTCCA	0.612													False	0	False	15:78290595	0	A	78290595	G	A	78290595	2	1	88	1	0	0	0	0	0	0	0	1	15701	1103	39	1		1	TBC1D2B	15	78290595	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	382664	78290595	24240797	15037	22749											
TBC1D2B	23102	broad.mit.edu	37	chr15	78305387	78305387	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caggctcagtgttgtccttgAacttcctggtgtgacggtcc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78305387A>C	ENST00000409931.3	-	9	2119	c.2048T>G	c.(2047-2049)tTc>tGc	p.F683C	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.F683C			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	683	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTTGTCCTTGAACTTCCTGGT	0.557													False	0	False	15:78305387	0	C	78305387	A	C	78305387	3	2	88	1	0	0	0	0	1	0	0	0	15701	246	9	4	863	4	TBC1D2B	15	78305387	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14792	78305387	24226005	15038	22750											
TBC1D2B	23102	broad.mit.edu	37	chr15	78316861	78316861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggatgaccggactgtctgCtggagcagtcgaacaagctc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78316861C>T	ENST00000409931.3	-	6	1178	c.1107G>A	c.(1105-1107)caG>caA	p.Q369Q	TBC1D2B_ENST00000300584.3_Silent_p.Q369Q			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	369						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GGACTGTCTGCTGGAGCAGTC	0.517													False	0	False	15:78316861	0	T	78316861	C	T	78316861	2	4	88	1	0	0	0	0	0	0	0	1	15701	796	28	2		2	TBC1D2B	15	78316861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11474	78316861	24214531	15039	22751											
TBC1D2B	23102	broad.mit.edu	37	chr15	78322507	78322507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caggacggaaagaagacatcGaattcctgttgggaaaaaca	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78322507G>A	ENST00000409931.3	-	4	760	c.689C>T	c.(688-690)tCg>tTg	p.S230L	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.S230L			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	230						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AGAAGACATCGAATTCCTGTT	0.353													False	0	False	15:78322507	0	A	78322507	G	A	78322507	3	1	88	1	0	0	0	0	1	0	0	0	15701	1059	37	1	2242	1	TBC1D2B	15	78322507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5646	78322507	24208885	15040	22752											
CIB2	10518	broad.mit.edu	37	chr15	78398138	78398138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcagcaaagcccagcttgCcgtcaccgtccaagtcagcc	9	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78398138C>T	ENST00000258930.3	-	5	813	c.485G>A	c.(484-486)gGc>gAc	p.G162D	CIB2_ENST00000557846.1_Missense_Mutation_p.G113D|CIB2_ENST00000560618.1_Missense_Mutation_p.G119D|CIB2_ENST00000539011.1_Missense_Mutation_p.G119D	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	162	EF-hand 3.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GCCCAGCTTGCCGTCACCGTC	0.617													False	0	False	15:78398138	0	T	78398138	C	T	78398138	3	4	88	1	0	0	0	0	1	0	0	0	3444	739	26	2	86	2	CIB2	15	78398138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75631	78398138	24133254	15041	22753											
CIB2	10518	broad.mit.edu	37	chr15	78398176	78398176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctcaatgaccttgtcGcacacaagcaccacctcctc	5	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78398176G>A	ENST00000258930.3	-	5	775	c.447C>T	c.(445-447)tgC>tgT	p.C149C	CIB2_ENST00000557846.1_Silent_p.C100C|CIB2_ENST00000560618.1_Silent_p.C106C|CIB2_ENST00000539011.1_Silent_p.C106C	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	149	EF-hand 3.						calcium ion binding	p.C149C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						TGACCTTGTCGCACACAAGCA	0.567													False	0	True	15:78398176	0	A	78398176	G	A	78398176	2	1	88	1	0	0	0	0	0	0	0	1	3444	1079	38	1		1	CIB2	15	78398176	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	78398176	24133216	15042	22754											
CIB2	10518	broad.mit.edu	37	chr15	78403609	78403609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccagctcatagaatcgCgaatgcagccttggaggaaa	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78403609C>T	ENST00000258930.3	-	3	424	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CIB2_ENST00000557846.1_Intron|CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000539011.1_5'UTR	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	32							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CATAGAATCGCGAATGCAGCC	0.612													False	0	False	15:78403609	0	T	78403609	C	T	78403609	2	4	88	1	0	0	0	0	0	0	0	1	3444	755	27	1		1	CIB2	15	78403609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5433	78403609	24127783	15043	22755											
IDH3A	3419	broad.mit.edu	37	chr15	78454048	78454048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctataaaaccccttacaccGatgtaaatattgtgaccatt	5	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78454048G>A	ENST00000299518.2	+	5	498	c.415G>A	c.(415-417)Gat>Aat	p.D139N	IDH3A_ENST00000558554.1_Missense_Mutation_p.D104N|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_Missense_Mutation_p.D30N	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	139					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	CCCTTACACCGATGTAAATAT	0.423													False	0	False	15:78454048	0	A	78454048	G	A	78454048	3	1	88	1	0	0	0	0	1	0	0	0	7546	1058	37	1	433	1	IDH3A	15	78454048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50439	78454048	24077344	15044	22756											
IDH3A	3419	broad.mit.edu	37	chr15	78458537	78458537	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggcaaggacatggcgaatCccacagccctcctgctcagt	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78458537C>A	ENST00000299518.2	+	10	993	c.910C>A	c.(910-912)Ccc>Acc	p.P304T	IDH3A_ENST00000561366.1_Silent_p.I37I|IDH3A_ENST00000558554.1_Missense_Mutation_p.P269T|IDH3A_ENST00000559205.1_Missense_Mutation_p.P25T|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_Missense_Mutation_p.P195T	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	304					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	CATGGCGAATCCCACAGCCCT	0.507													False	0	True	15:78458537	0	A	78458537	C	A	78458537	3	1	88	1	0	0	0	0	1	0	0	0	7546	855	30	3	948	3	IDH3A	15	78458537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4489	78458537	24072855	15045	22757											
ACSBG1	23205	broad.mit.edu	37	chr15	78474929	78474929	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcttcctcaggcactTcattccccagctccatgaat	7	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78474929T>C	ENST00000258873.4	-	7	978	c.773A>G	c.(772-774)gAa>gGa	p.E258G	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E16G|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E16G	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	258					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTCAGGCACTTCATTCCCCAG	0.617													False	0	False	15:78474929	0	C	78474929	T	C	78474929	3	2	88	1	0	0	0	0	1	0	0	0	173	1783	62	4	1433	4	ACSBG1	15	78474929	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16392	78474929	24056463	15046	22758											
ACSBG1	23205	broad.mit.edu	37	chr15	78475047	78475047	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccccactgcccatacCgtgtacacattggccatctt	8	16	1	0	rs138877360		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78475047C>T	ENST00000258873.4	-	6	949	c.744G>A	c.(742-744)acG>acA	p.T248T	ACSBG1_ENST00000541759.1_Splice_Site_p.T6T|ACSBG1_ENST00000560817.1_Splice_Site_p.T6T	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	248					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGCCCATACCGTGTACACAT	0.532													False	0	False	15:78475047	0	T	78475047	C	T	78475047	5	4	88	1	0	0	0	0	0	0	1	0	173	666	23	1	1466	1	ACSBG1	15	78475047	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	78475047	24056345	15047	22759											
DNAJA4	55466	broad.mit.edu	37	chr15	78557118	78557118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacaagatggtgaaggagAcccagtactatgacatcctg	11	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78557118A>G	ENST00000394855.3	+	2	328	c.100A>G	c.(100-102)Acc>Gcc	p.T34A	DNAJA4_ENST00000394852.3_Missense_Mutation_p.T5A|DNAJA4_ENST00000489435.2_Missense_Mutation_p.T34A|DNAJA4_ENST00000343789.3_Missense_Mutation_p.T5A	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	5	J.				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						GGTGAAGGAGACCCAGTACTA	0.697													False	0	True	15:78557118	0	G	78557118	A	G	78557118	3	3	88	1	0	0	0	0	1	0	0	0	4644	275	10	4	106	4	DNAJA4	15	78557118	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	82071	78557118	23974274	15048	22760											
DNAJA4	55466	broad.mit.edu	37	chr15	78566680	78566680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaagggccagggtgagcGcatcaaccccaaggaccgct	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78566680G>A	ENST00000394855.3	+	5	875	c.647G>A	c.(646-648)cGc>cAc	p.R216H	DNAJA4_ENST00000394852.3_Missense_Mutation_p.R187H|DNAJA4_ENST00000343789.3_Missense_Mutation_p.R187H|DNAJA4_ENST00000446172.2_Missense_Mutation_p.R160H	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	187					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CAGGGTGAGCGCATCAACCCC	0.602													False	0	False	15:78566680	0	A	78566680	G	A	78566680	3	1	88	1	0	0	0	0	1	0	0	0	4644	1087	38	1	720	1	DNAJA4	15	78566680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9562	78566680	23964712	15049	22761											
WDR61	80349	broad.mit.edu	37	chr15	78585111	78585111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctccagactccactgtaGgtccagcctctcatcacgcc	6	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78585111G>T	ENST00000267973.2	-	5	437	c.166C>A	c.(166-168)Cta>Ata	p.L56I	WDR61_ENST00000558459.1_Intron|WDR61_ENST00000558311.1_Missense_Mutation_p.L56I			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	56							protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CTCCACTGTAGGTCCAGCCTC	0.517													False	0	False	15:78585111	0	T	78585111	G	T	78585111	3	4	88	1	0	0	0	0	1	0	0	0	17396	991	35	3	779	3	WDR61	15	78585111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18431	78585111	23946281	15050	22762											
CRABP1	1381	broad.mit.edu	37	chr15	78640310	78640310	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctgcaccagaatttatgtCcgagagtgaaggcagctggc	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78640310C>T	ENST00000299529.6	+	4	510	c.405C>T	c.(403-405)gtC>gtT	p.V135V		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	135					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	GAATTTATGTCCGAGAGTGAA	0.498													False	0	False	15:78640310	0	T	78640310	C	T	78640310	2	4	88	1	0	0	0	0	0	0	0	1	3866	842	30	2		2	CRABP1	15	78640310	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55199	78640310	23891082	15051	22763											
IREB2	3658	broad.mit.edu	37	chr15	78780532	78780532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttttttcagggtgatttggTtacctgtggaattttatctg	10	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78780532T>C	ENST00000258886.8	+	15	1954	c.1805T>C	c.(1804-1806)gTt>gCt	p.V602A		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	602							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGTGATTTGGTTACCTGTGGA	0.343													False	0	False	15:78780532	0	C	78780532	T	C	78780532	3	2	88	1	0	0	0	0	1	0	0	0	7876	1725	60	4	1863	4	IREB2	15	78780532	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140222	78780532	23750860	15052	22764											
PSMA4	5685	broad.mit.edu	37	chr15	78837253	78837253	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaataccttgtgagcagttGgttacagcgctgtgtgatat	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78837253G>A	ENST00000044462.7	+	6	480	c.330G>A	c.(328-330)ttG>ttA	p.L110L	PSMA4_ENST00000560217.1_Silent_p.L79L|PSMA4_ENST00000558094.1_Silent_p.L22L|PSMA4_ENST00000559082.1_Silent_p.L110L|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558281.1_Silent_p.L110L|PSMA4_ENST00000413382.2_Silent_p.L39L|PSMA4_ENST00000557929.1_3'UTR	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	110					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTGAGCAGTTGGTTACAGCGC	0.328													False	0	False	15:78837253	0	A	78837253	G	A	78837253	2	1	88	1	0	0	0	0	0	0	0	1	12745	1339	47	2		2	PSMA4	15	78837253	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56721	78837253	23694139	15053	22765											
CHRNA3	0	broad.mit.edu	37	chr15	78893874	78893874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctcggcaccgtagaggggCctcggcttctgagcgttgcc	15	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78893874C>A	ENST00000326828.5	-	5	1494	c.1110G>T	c.(1108-1110)agG>agT	p.R370S	CHRNA3_ENST00000348639.3_Missense_Mutation_p.R370S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	370					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTAGAGGGGCCTCGGCTTCT	0.577													False	0	True	15:78893874	0	A	78893874	C	A	78893874	3	1	88	1	0	0	0	0	1	0	0	0	3407	738	26	3	500	3	CHRNA3	15	78893874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56621	78893874	23637518	15054	22766											
CHRNA3	0	broad.mit.edu	37	chr15	78893898	78893898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctgagcgttgccctcGttgcttgttggcctggtcat	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78893898G>A	ENST00000326828.5	-	5	1470	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	CHRNA3_ENST00000348639.3_Silent_p.N362N	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	362					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTTGCCCTCGTTGCTTGTTG	0.567													False	0	False	15:78893898	0	A	78893898	G	A	78893898	2	1	88	1	0	0	0	0	0	0	0	1	3407	1136	40	1		1	CHRNA3	15	78893898	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	78893898	23637494	15055	22767											
CHRNB4	1143	broad.mit.edu	37	chr15	78921375	78921375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccttctaatgcctcctgCacatcctgtcggaacctccc	5	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78921375C>T	ENST00000261751.3	-	5	1383	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	424					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V424V(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ATGCCTCCTGCACATCCTGTC	0.592													False	0	False	15:78921375	0	T	78921375	C	T	78921375	2	4	88	1	0	0	0	0	0	0	0	1	3416	697	25	2		2	CHRNB4	15	78921375	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27477	78921375	23610017	15056	22768											
CHRNB4	1143	broad.mit.edu	37	chr15	78921496	78921496	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacaaagtacatggagttcCcatagaagttggaggggctg	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78921496C>A	ENST00000261751.3	-	5	1262	c.1151G>T	c.(1150-1152)gGg>gTg	p.G384V	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	384					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CATGGAGTTCCCATAGAAGTT	0.647													False	0	True	15:78921496	0	A	78921496	C	A	78921496	3	1	88	1	0	0	0	0	1	0	0	0	3416	623	22	3	353	3	CHRNB4	15	78921496	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121	78921496	23609896	15057	22769											
CHRNB4	1143	broad.mit.edu	37	chr15	78923439	78923439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtaaagcacgatgtcaGgcaaccagatgcgctttgca	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78923439G>T	ENST00000261751.3	-	4	449	c.338C>A	c.(337-339)cCt>cAt	p.P113H	CHRNB4_ENST00000412074.2_Missense_Mutation_p.P113H|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	113					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CACGATGTCAGGCAACCAGAT	0.592													False	0	False	15:78923439	0	T	78923439	G	T	78923439	3	4	88	1	0	0	0	0	1	0	0	0	3416	1000	35	3	1170	3	CHRNB4	15	78923439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1943	78923439	23607953	15058	22770											
ADAMTS7	11173	broad.mit.edu	37	chr15	79058949	79058949	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acccgtggagggcgcagcagGatggctgtgtggtgggggtg	22	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79058949G>T	ENST00000388820.4	-	19	3514	c.3304C>A	c.(3304-3306)Cct>Act	p.P1102T		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1102					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCGCAGCAGGATGGCTGTGT	0.657													False	0	False	15:79058949	0	T	79058949	G	T	79058949	3	4	88	1	0	0	0	0	1	0	0	0	271	1174	41	3	1780	3	ADAMTS7	15	79058949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135510	79058949	23472443	15059	22771											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059345	79059345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggacaccggtgtcattggTgcagaggacatttcggcgct	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059345T>C	ENST00000388820.4	-	19	3118	c.2908A>G	c.(2908-2910)Acc>Gcc	p.T970A	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	970	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTGTCATTGGTGCAGAGGACA	0.667													False	0	False	15:79059345	0	C	79059345	T	C	79059345	3	2	88	1	0	0	0	0	1	0	0	0	271	1696	59	4	2176	4	ADAMTS7	15	79059345	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	396	79059345	23472047	15060	22772											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059359	79059359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattggtgcagaggacatttCggcgctgagtgccctcccca	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059359C>T	ENST00000388820.4	-	19	3104	c.2894G>A	c.(2893-2895)cGa>cAa	p.R965Q	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	965	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GAGGACATTTCGGCGCTGAGT	0.662													False	0	True	15:79059359	0	T	79059359	C	T	79059359	3	4	88	1	0	0	0	0	1	0	0	0	271	884	31	1	2190	1	ADAMTS7	15	79059359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	79059359	23472033	15061	22773											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059868	79059868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgctgcggatgcagagcacGgcccggcgggagaggccccc	17	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059868G>A	ENST00000388820.4	-	18	2922	c.2712C>T	c.(2710-2712)gcC>gcT	p.A904A	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	904	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCAGAGCACGGCCCGGCGGG	0.697													False	0	False	15:79059868	0	A	79059868	G	A	79059868	2	1	88	1	0	0	0	0	0	0	0	1	271	1103	39	1		1	ADAMTS7	15	79059868	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	509	79059868	23471524	15062	22774											
ADAMTS7	11173	broad.mit.edu	37	chr15	79064008	79064008	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgtgcgtatgtgaaggtggtCcctgccacctggtagtcccc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79064008C>A	ENST00000388820.4	-	15	2505	c.2295G>T	c.(2293-2295)ggG>ggT	p.G765G	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	765	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAGGTGGTCCCTGCCACCT	0.642													False	0	True	15:79064008	0	A	79064008	C	A	79064008	2	1	88	1	0	0	0	0	0	0	0	1	271	842	30	3		3	ADAMTS7	15	79064008	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4140	79064008	23467384	15063	22775											
ADAMTS7	11173	broad.mit.edu	37	chr15	79064172	79064172	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagccccacatccacataccCtgtcagccaagggttgtgca	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79064172C>A	ENST00000388820.4	-	15	2342		c.e15-1		ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCACATACCCTGTCAGCCAA	0.637													False	0	True	15:79064172	0	A	79064172	C	A	79064172	5	1	88	1	0	0	0	0	0	0	1	0	271	695	24	3	2969	3	ADAMTS7	15	79064172	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164	79064172	23467220	15064	22776											
ADAMTS7	11173	broad.mit.edu	37	chr15	79082066	79082066	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctacagtgaaggccagCggcaggcccgtgtcctcgtt	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79082066C>T	ENST00000388820.4	-	7	1353	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	381	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAGGCCAGCGGCAGGCCCG	0.672													False	0	False	15:79082066	0	T	79082066	C	T	79082066	2	4	88	1	0	0	0	0	0	0	0	1	271	755	27	1		1	ADAMTS7	15	79082066	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17894	79082066	23449326	15065	22777											
CTSH	1512	broad.mit.edu	37	chr15	79224731	79224731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccaaggacagcatctttcCggttgcgatggcgatcgcag	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79224731C>T	ENST00000220166.5	-	6	584	c.475G>A	c.(475-477)Gga>Aga	p.G159R	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	159					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						AGCATCTTTCCGGTTGCGATG	0.622													False	0	False	15:79224731	0	T	79224731	C	T	79224731	3	4	88	1	0	0	0	0	1	0	0	0	4061	661	23	1	560	1	CTSH	15	79224731	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142665	79224731	23306661	15066	22778											
RASGRF1	5923	broad.mit.edu	37	chr15	79296436	79296436	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcggcgaggagaacttGcgggtggcgcgcggggactt	22	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79296436G>A	ENST00000419573.3	-	16	2479	c.2205C>T	c.(2203-2205)cgC>cgT	p.R735R	RASGRF1_ENST00000558480.2_Silent_p.R719R|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	735	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGAGAACTTGCGGGTGGCGC	0.647													False	0	False	15:79296436	0	A	79296436	G	A	79296436	2	1	88	1	0	0	0	0	0	0	0	1	13151	1306	46	2		2	RASGRF1	15	79296436	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71705	79296436	23234956	15067	22779											
KIAA1024	23251	broad.mit.edu	37	chr15	79760664	79760664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagatagctgctctgatcGctgctgcggcatgcaccgtc	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79760664G>A	ENST00000305428.3	+	4	2764	c.2689G>A	c.(2689-2691)Gct>Act	p.A897T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	897						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGCTCTGATCGCTGCTGCGGC	0.458													False	0	False	15:79760664	0	A	79760664	G	A	79760664	3	1	88	1	0	0	0	0	1	0	0	0	8255	1087	38	1	2699	1	KIAA1024	15	79760664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	464228	79760664	22770728	15068	22780											
FAH	2184	broad.mit.edu	37	chr15	80478528	80478528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtgtgctggaaaagtgCtgcctgctctcctgccatca	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:80478528C>T	ENST00000539156.1	+	13	3265	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	FAH_ENST00000407106.1_Silent_p.L413L|FAH_ENST00000261755.5_Silent_p.L413L|FAH_ENST00000561421.1_Silent_p.L413L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	413					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGAAAAGTGCTGCCTGCTCT	0.562									Tyrosinemia, type 1				False	0	True	15:80478528	0	T	80478528	C	T	80478528	2	4	88	1	0	0	0	0	0	0	0	1	5407	796	28	2		2	FAH	15	80478528	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	717864	80478528	22052864	15069	22781											
ARNT2	9915	broad.mit.edu	37	chr15	80845037	80845037	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgtcggtgcccacagagttCttatcccggcataactccga	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:80845037C>T	ENST00000533983.1	+	11	1317	c.978C>T	c.(976-978)ttC>ttT	p.F326F	ARNT2_ENST00000527771.1_Silent_p.F326F|ARNT2_ENST00000303329.4_Silent_p.F337F			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	337	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCACAGAGTTCTTATCCCGGC	0.493													False	0	False	15:80845037	0	T	80845037	C	T	80845037	2	4	88	1	0	0	0	0	0	0	0	1	970	912	32	2		2	ARNT2	15	80845037	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	366509	80845037	21686355	15070	22782											
KIAA1199	57214	broad.mit.edu	37	chr15	81241240	81241240	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccaagttgtgcccatccCtgtggtgaagaagaagaagt	11	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81241240C>A	ENST00000394685.3	+	30	4480	c.4061C>A	c.(4060-4062)cCt>cAt	p.P1354H	KIAA1199_ENST00000220244.3_Missense_Mutation_p.P1354H|MESDC2_ENST00000560244.1_Splice_Site|KIAA1199_ENST00000356249.5_Missense_Mutation_p.P1354H			Q8WUJ3	K1199_HUMAN	KIAA1199	1354										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTGCCCATCCCTGTGGTGAAG	0.557													False	0	True	15:81241240	0	A	81241240	C	A	81241240	3	1	88	1	0	0	0	0	1	0	0	0	8263	681	24	3	4171	3	KIAA1199	15	81241240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396203	81241240	21290152	15071	22783											
MESDC1	59274	broad.mit.edu	37	chr15	81294944	81294944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcggggaggcgggggacaGcctggtggagctgggcgacc	21	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81294944G>A	ENST00000267984.2	+	1	1650	c.332G>A	c.(331-333)aGc>aAc	p.S111N		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	111										endometrium(1)|lung(2)	3						GCGGGGGACAGCCTGGTGGAG	0.721													False	0	False	15:81294944	0	A	81294944	G	A	81294944	3	1	88	1	0	0	0	0	1	0	0	0	9547	971	34	2	334	2	MESDC1	15	81294944	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53704	81294944	21236448	15072	22784											
C15orf26	161502	broad.mit.edu	37	chr15	81427610	81427610	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttgttgattttctgtttaGgagctcatgaaagacttctt	8	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81427610G>T	ENST00000286732.4	+	2	152		c.e2-1			NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26											endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TTTCTGTTTAGGAGCTCATGA	0.343													False	0	False	15:81427610	0	T	81427610	G	T	81427610	5	4	88	1	0	0	0	0	0	0	1	0	1796	1014	35	3	75	3	C15orf26	15	81427610	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132666	81427610	21103782	15073	22785											
C15orf26	161502	broad.mit.edu	37	chr15	81430434	81430434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtccttagatatgggcaGgacttttgcctggggataac	12	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81430434G>A	ENST00000286732.4	+	4	518	c.435G>A	c.(433-435)caG>caA	p.Q145Q		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	145										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GATATGGGCAGGACTTTTGCC	0.393													False	0	False	15:81430434	0	A	81430434	G	A	81430434	2	1	88	1	0	0	0	0	0	0	0	1	1796	991	35	2		2	C15orf26	15	81430434	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2824	81430434	21100958	15074	22786											
IL16	3603	broad.mit.edu	37	chr15	81571983	81571983	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccacctgtctcccccaCtgtgccgctccctgagctcc	8	21	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81571983C>T	ENST00000394660.2	+	8	1309	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	IL16_ENST00000302987.4_Silent_p.L317L	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	317	Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCTCCCCCACTGTGCCGCTC	0.607													False	0	False	15:81571983	0	T	81571983	C	T	81571983	2	4	88	1	0	0	0	0	0	0	0	1	7683	564	20	2		2	IL16	15	81571983	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141549	81571983	20959409	15075	22787											
IL16	3603	broad.mit.edu	37	chr15	81592491	81592491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctggcccggacccgctcCtaaggctgctgtcaacacag	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81592491C>T	ENST00000394660.2	+	14	3184	c.2824C>T	c.(2824-2826)Cta>Tta	p.L942L	IL16_ENST00000302987.4_Silent_p.L942L|IL16_ENST00000394652.2_Silent_p.L241L	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	942				LRL -> PRE (in Ref. 4).	immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGACCCGCTCCTAAGGCTGCT	0.652													False	0	False	15:81592491	0	T	81592491	C	T	81592491	2	4	88	1	0	0	0	0	0	0	0	1	7683	680	24	2		2	IL16	15	81592491	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20508	81592491	20938901	15076	22788											
STARD5	80765	broad.mit.edu	37	chr15	81614779	81614779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttggataatttcaaaaccGgtcacattctcatcccactt	4	12	3	0	rs142670896		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81614779G>A	ENST00000302824.6	-	3	277	c.252C>T	c.(250-252)acC>acT	p.T84T	STARD5_ENST00000559913.1_5'UTR	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	84	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						TTTCAAAACCGGTCACATTCT	0.483													False	0	False	15:81614779	0	A	81614779	G	A	81614779	2	1	88	1	0	0	0	0	0	0	0	1	15342	1103	39	1		1	STARD5	15	81614779	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22288	81614779	20916613	15077	22789											
TMC3	342125	broad.mit.edu	37	chr15	81625165	81625165	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taaaaatgaggagcccgacgGaggtctatcagggagcgtgg	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81625165G>A	ENST00000558726.1	-	22	3036	c.2901C>T	c.(2899-2901)ctC>ctT	p.L967L	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.L966L			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	966						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAGCCCGACGGAGGTCTATCA	0.577													False	0	False	15:81625165	0	A	81625165	G	A	81625165	2	1	88	1	0	0	0	0	0	0	0	1	16068	1161	41	2		2	TMC3	15	81625165	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10386	81625165	20906227	15078	22790											
TMC3	342125	broad.mit.edu	37	chr15	81650547	81650547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccccactaggaaatacGccaagggcagccggtagcca	10	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81650547G>A	ENST00000558726.1	-	7	821	c.686C>T	c.(685-687)gCg>gTg	p.A229V	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.A229V			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	229						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TAGGAAATACGCCAAGGGCAG	0.458													False	0	False	15:81650547	0	A	81650547	G	A	81650547	3	1	88	1	0	0	0	0	1	0	0	0	16068	1087	38	1	2680	1	TMC3	15	81650547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25382	81650547	20880845	15079	22791											
TMC3	342125	broad.mit.edu	37	chr15	81666401	81666401	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcctctatagcgctgggaTgccttcgaggttttcatggg	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81666401T>C	ENST00000558726.1	-	1	153	c.18A>G	c.(16-18)gcA>gcG	p.A6A	TMC3_ENST00000359440.5_Silent_p.A6A			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	6						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGCGCTGGGATGCCTTCGAGG	0.547													False	0	False	15:81666401	0	C	81666401	T	C	81666401	2	2	88	1	0	0	0	0	0	0	0	1	16068	1451	51	4		4	TMC3	15	81666401	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15854	81666401	20864991	15080	22792											
MEX3B	84206	broad.mit.edu	37	chr15	82335561	82335561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccgggcactcgggctcGctcttctcacagatgcgatt	11	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82335561G>A	ENST00000329713.4	-	2	2085	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	550					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ACTCGGGCTCGCTCTTCTCAC	0.627													False	0	True	15:82335561	0	A	82335561	G	A	82335561	2	1	88	1	0	0	0	0	0	0	0	1	9577	1078	38	1		1	MEX3B	15	82335561	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	669160	82335561	20195831	15081	22793											
MEX3B	84206	broad.mit.edu	37	chr15	82335787	82335787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgcccccagcccgttgGcataagcggcgtaggccagg	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82335787G>A	ENST00000329713.4	-	2	1859	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	475					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CAGCCCGTTGGCATAAGCGGC	0.697													False	0	False	15:82335787	0	A	82335787	G	A	82335787	3	1	88	1	0	0	0	0	1	0	0	0	9577	1203	42	2	289	2	MEX3B	15	82335787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226	82335787	20195605	15082	22794											
MEX3B	84206	broad.mit.edu	37	chr15	82336392	82336392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgcggccgggggtgggCgtgatgctgggggtgggctt	24	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82336392C>T	ENST00000329713.4	-	2	1254	c.819G>A	c.(817-819)acG>acA	p.T273T	MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	273					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CGGGGGTGGGCGTGATGCTGG	0.652													False	0	True	15:82336392	0	T	82336392	C	T	82336392	2	4	88	1	0	0	0	0	0	0	0	1	9577	755	27	1		1	MEX3B	15	82336392	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605	82336392	20195000	15083	22795											
EFTUD1	79631	broad.mit.edu	37	chr15	82444692	82444692	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcattgaccatgtcaacTtttgggggttttgtgattgt	10	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82444692T>G	ENST00000268206.7	-	18	2271	c.2103A>C	c.(2101-2103)aaA>aaC	p.K701N	EFTUD1_ENST00000359445.3_Missense_Mutation_p.K650N	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	701					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCATGTCAACTTTTGGGGGTT	0.358													False	0	True	15:82444692	0	G	82444692	T	G	82444692	3	3	88	1	0	0	0	0	1	0	0	0	4990	1606	56	4	1271	4	EFTUD1	15	82444692	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	108300	82444692	20086700	15084	22796											
EFTUD1	79631	broad.mit.edu	37	chr15	82532772	82532772	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacctgttctaaaataTtcttgaggtgagaataggcc	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82532772T>G	ENST00000268206.7	-	6	671	c.503A>C	c.(502-504)aAt>aCt	p.N168T	EFTUD1_ENST00000359445.3_Missense_Mutation_p.N117T	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	168					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCTAAAATATTCTTGAGGTG	0.373													False	0	False	15:82532772	0	G	82532772	T	G	82532772	3	3	88	1	0	0	0	0	1	0	0	0	4990	1493	52	4	2919	4	EFTUD1	15	82532772	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88080	82532772	19998620	15085	22797											
FAM154B	283726	broad.mit.edu	37	chr15	82555261	82555261	+	Translation_Start_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gagctggtgtctgtgtcagaTttgtagctgcgggtaagaaa	15	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82555261T>G	ENST00000427381.2	+	0	70				FAM154B_ENST00000565432.1_De_novo_Start_OutOfFrame|FAM154B_ENST00000566861.1_Missense_Mutation_p.I14S|FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000566205.1_Missense_Mutation_p.I14S|FAM154B_ENST00000339465.5_Missense_Mutation_p.I14S			Q658L1	F154B_HUMAN	family with sequence similarity 154, member B											autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						CTGTGTCAGATTTGTAGCTGC	0.642													False	0	True	15:82555261	0	G	82555261	T	G	82555261	1	3	88	1	0	0	0	0	0	0	0	0	5500	1493	52	4		4	FAM154B	15	82555261	Translation_Start_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22489	82555261	19976131	15086	22798											
AP3B2	8120	broad.mit.edu	37	chr15	83335598	83335598	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcggaagggacgatgaGctgccgggtgaagcgcgccc	17	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83335598G>T	ENST00000261722.3	-	15	1960	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	AP3B2_ENST00000535348.1_Missense_Mutation_p.L553I|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.L585I	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	585					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGACGATGAGCTGCCGGGTG	0.587													False	0	False	15:83335598	0	T	83335598	G	T	83335598	3	4	88	1	0	0	0	0	1	0	0	0	747	971	34	3	1543	3	AP3B2	15	83335598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	780337	83335598	19195794	15087	22799											
AP3B2	8120	broad.mit.edu	37	chr15	83346884	83346884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtaggacagtaggaatGttggtctcattggccaggtt	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83346884G>A	ENST00000261722.3	-	11	1425	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	AP3B2_ENST00000535348.1_Silent_p.N374N|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.N406N	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	406					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGTAGGAATGTTGGTCTCAT	0.572													False	0	False	15:83346884	0	A	83346884	G	A	83346884	2	1	88	1	0	0	0	0	0	0	0	1	747	1368	48	2		2	AP3B2	15	83346884	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11286	83346884	19184508	15088	22800											
FSD2	123722	broad.mit.edu	37	chr15	83440974	83440974	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggatttatgactggagcaGaaggagctaggaaaagaaaa	14	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83440974G>T	ENST00000334574.8	-	7	1299	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y	FSD2_ENST00000541889.1_Missense_Mutation_p.S373Y			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	373	Fibronectin type-III 1.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GACTGGAGCAGAAGGAGCTAG	0.498													False	0	False	15:83440974	0	T	83440974	G	T	83440974	3	4	88	1	0	0	0	0	1	0	0	0	6113	942	33	3	1159	3	FSD2	15	83440974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94090	83440974	19090418	15089	22801											
WHAMM	123720	broad.mit.edu	37	chr15	83478510	83478510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctgacagcctggaggGctgggtgccggtccgggagg	20	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83478510G>A	ENST00000286760.4	+	1	131	c.32G>A	c.(31-33)gGc>gAc	p.G11D		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	11						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						AGCCTGGAGGGCTGGGTGCCG	0.736													False	0	True	15:83478510	0	A	83478510	G	A	83478510	3	1	88	1	0	0	0	0	1	0	0	0	17445	1203	42	2	34	2	WHAMM	15	83478510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37536	83478510	19052882	15090	22802											
SH3GL3	6457	broad.mit.edu	37	chr15	84237341	84237341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccgagggcaggtgaagaCcacaggatacccgcagacgg	15	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84237341C>T	ENST00000324537.5	+	7	764	c.272C>T	c.(271-273)aCc>aTc	p.T91I	SH3GL3_ENST00000535412.1_Missense_Mutation_p.T83I|SH3GL3_ENST00000434347.1_Missense_Mutation_p.T91I|SH3GL3_ENST00000427482.2_Missense_Mutation_p.T83I			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	83	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						CAGGTGAAGACCACAGGATAC	0.468													False	0	False	15:84237341	0	T	84237341	C	T	84237341	3	4	88	1	0	0	0	0	1	0	0	0	14333	507	18	2	262	2	SH3GL3	15	84237341	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	758831	84237341	18294051	15091	22803											
SH3GL3	6457	broad.mit.edu	37	chr15	84257442	84257442	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatccagtgtccccagaCgagaatacaagccaaggcct	9	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84257442C>T	ENST00000324537.5	+	11	1273	c.781C>T	c.(781-783)Cga>Tga	p.R261*	SH3GL3_ENST00000535412.1_Nonsense_Mutation_p.R253*|SH3GL3_ENST00000434347.1_Nonsense_Mutation_p.R261*|SH3GL3_ENST00000427482.2_Nonsense_Mutation_p.R253*			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	253					central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGTCCCCAGACGAGAATACAA	0.458													False	0	False	15:84257442	0	T	84257442	C	T	84257442	4	4	88	1	0	0	0	0	0	1	0	0	14333	528	19	1	787	1	SH3GL3	15	84257442	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20101	84257442	18273950	15092	22804											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84539609	84539609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacacagctttaacagcccCggcgtctttctcgtagaaaa	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84539609C>T	ENST00000286744.5	+	9	1082	c.858C>T	c.(856-858)ccC>ccT	p.P286P	ADAMTSL3_ENST00000567476.1_Silent_p.P286P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	286						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTAACAGCCCCGGCGTCTTTC	0.378													False	0	True	15:84539609	0	T	84539609	C	T	84539609	2	4	88	1	0	0	0	0	0	0	0	1	276	639	23	1		1	ADAMTSL3	15	84539609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282167	84539609	17991783	15093	22805											
WDR73	84942	broad.mit.edu	37	chr15	85186746	85186746	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagtcccacacatgcagagaGgcatcatttgttgctgataa	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85186746G>T	ENST00000434634.2	-	8	1152	c.1092C>A	c.(1090-1092)gcC>gcA	p.A364A	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	364										cervix(1)|large_intestine(1)|lung(1)	3						CATGCAGAGAGGCATCATTTG	0.542													False	0	True	15:85186746	0	T	85186746	G	T	85186746	2	4	88	1	0	0	0	0	0	0	0	1	17407	987	35	3		3	WDR73	15	85186746	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	647137	85186746	17344646	15094	22806											
WDR73	84942	broad.mit.edu	37	chr15	85191804	85191804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctttagatcaaagatagacCtgtctgaaaatcctccatgg	8	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85191804C>T	ENST00000434634.2	-	4	311	c.251G>A	c.(250-252)aGg>aAg	p.R84K	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	84										cervix(1)|large_intestine(1)|lung(1)	3						AAAGATAGACCTGTCTGAAAA	0.453													False	0	False	15:85191804	0	T	85191804	C	T	85191804	3	4	88	1	0	0	0	0	1	0	0	0	17407	681	24	2	905	2	WDR73	15	85191804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5058	85191804	17339588	15095	22807											
ZNF592	9640	broad.mit.edu	37	chr15	85326844	85326844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacacaaaggatctctcagGgcccactaaagagagttcta	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85326844G>T	ENST00000299927.3	+	1	960	c.938G>T	c.(937-939)gGg>gTg	p.G313V	ZNF592_ENST00000560079.2_Missense_Mutation_p.G313V			Q92610	ZN592_HUMAN	zinc finger protein 592	313					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATCTCTCAGGGCCCACTAAA	0.537													False	0	True	15:85326844	0	T	85326844	G	T	85326844	3	4	88	1	0	0	0	0	1	0	0	0	18105	1232	43	3	940	3	ZNF592	15	85326844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135040	85326844	17204548	15096	22808											
ZNF592	9640	broad.mit.edu	37	chr15	85341876	85341876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caagcctccagtcttcagcgGacacatcctcaagccgccct	7	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85341876G>T	ENST00000299927.3	+	5	2816	c.2794G>T	c.(2794-2796)Gac>Tac	p.D932Y	ZNF592_ENST00000560079.2_Missense_Mutation_p.D932Y			Q92610	ZN592_HUMAN	zinc finger protein 592	932					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCTTCAGCGGACACATCCTC	0.622													False	0	False	15:85341876	0	T	85341876	G	T	85341876	3	4	88	1	0	0	0	0	1	0	0	0	18105	1174	41	3	2812	3	ZNF592	15	85341876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15032	85341876	17189516	15097	22809											
ALPK3	57538	broad.mit.edu	37	chr15	85382963	85382963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgccgccatctaccaGgcctctgcccagaacagcaa	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85382963G>A	ENST00000258888.5	+	5	1226	c.1059G>A	c.(1057-1059)caG>caA	p.Q353Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	353	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCATCTACCAGGCCTCTGCCC	0.627													False	0	False	15:85382963	0	A	85382963	G	A	85382963	2	1	88	1	0	0	0	0	0	0	0	1	546	991	35	2		2	ALPK3	15	85382963	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41087	85382963	17148429	15098	22810											
ALPK3	57538	broad.mit.edu	37	chr15	85401163	85401163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggctcctggggtcctgGtcccagctccctcactgtcc	11	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85401163G>A	ENST00000258888.5	+	6	3967	c.3800G>A	c.(3799-3801)gGt>gAt	p.G1267D		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1267					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGGGTCCTGGTCCCAGCTCC	0.682													False	0	False	15:85401163	0	A	85401163	G	A	85401163	3	1	88	1	0	0	0	0	1	0	0	0	546	1261	44	2	3822	2	ALPK3	15	85401163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18200	85401163	17130229	15099	22811											
ALPK3	57538	broad.mit.edu	37	chr15	85407773	85407773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagtcttactgttctcggGaatggggctgtgctgaggct	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85407773G>A	ENST00000258888.5	+	12	5373	c.5206G>A	c.(5206-5208)Gaa>Aaa	p.E1736K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1736	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTGTTCTCGGGAATGGGGCTG	0.547													False	0	True	15:85407773	0	A	85407773	G	A	85407773	3	1	88	1	0	0	0	0	1	0	0	0	546	1175	41	2	5252	2	ALPK3	15	85407773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6610	85407773	17123619	15100	22812											
SLC28A1	9154	broad.mit.edu	37	chr15	85447402	85447402	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagcggcctgagcaacTggtgtccttcgcaggaatct	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85447402T>G	ENST00000394573.1	+	7	738	c.536T>G	c.(535-537)cTg>cGg	p.L179R	SLC28A1_ENST00000537216.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000286749.3_Missense_Mutation_p.L179R|SLC28A1_ENST00000537703.1_Missense_Mutation_p.L101R|SLC28A1_ENST00000538177.1_Missense_Mutation_p.L179R|SLC28A1_ENST00000537624.1_Missense_Mutation_p.L179R	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	179					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTGAGCAACTGGTGTCCTTC	0.587													False	0	False	15:85447402	0	G	85447402	T	G	85447402	3	3	88	1	0	0	0	0	1	0	0	0	14611	1580	55	4	625	4	SLC28A1	15	85447402	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39629	85447402	17083990	15101	22813											
SLC28A1	9154	broad.mit.edu	37	chr15	85478712	85478712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacgccgcctggcaggggCcgaggagtgggtcggcgaca	19	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85478712C>T	ENST00000394573.1	+	15	1746	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	SLC28A1_ENST00000537216.1_Missense_Mutation_p.A515V|SLC28A1_ENST00000286749.3_Missense_Mutation_p.A515V|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A515V	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	515					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTGGCAGGGGCCGAGGAGTGG	0.617													False	0	True	15:85478712	0	T	85478712	C	T	85478712	3	4	88	1	0	0	0	0	1	0	0	0	14611	739	26	2	1665	2	SLC28A1	15	85478712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31310	85478712	17052680	15102	22814											
SLC28A1	9154	broad.mit.edu	37	chr15	85488368	85488368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttagcgtcaatccagaGttcagcccagaggccctgga	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85488368G>A	ENST00000394573.1	+	19	2089	c.1887G>A	c.(1885-1887)gaG>gaA	p.E629E	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000286749.3_Silent_p.E629E|SLC28A1_ENST00000538177.1_Silent_p.E463E|SLC28A1_ENST00000537624.1_Intron	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	629					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAATCCAGAGTTCAGCCCAG	0.557													False	0	False	15:85488368	0	A	85488368	G	A	85488368	2	1	88	1	0	0	0	0	0	0	0	1	14611	1020	36	2		2	SLC28A1	15	85488368	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9656	85488368	17043024	15103	22815											
PDE8A	5151	broad.mit.edu	37	chr15	85610412	85610412	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacagaaatcctcgacaGctggatgcagaggcactgtg	12	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85610412G>A	ENST00000310298.4	+	4	663	c.411G>A	c.(409-411)caG>caA	p.Q137Q	PDE8A_ENST00000339708.5_Silent_p.Q137Q|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Silent_p.Q65Q|PDE8A_ENST00000394553.1_Silent_p.Q137Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A	137					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			ATCCTCGACAGCTGGATGCAG	0.458													False	0	False	15:85610412	0	A	85610412	G	A	85610412	2	1	88	1	0	0	0	0	0	0	0	1	11721	962	34	2		2	PDE8A	15	85610412	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122044	85610412	16920980	15104	22816											
PDE8A	5151	broad.mit.edu	37	chr15	85652283	85652283	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttatcatttgtttctacaGataatcagacaggcaaacat	5	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85652283G>A	ENST00000310298.4	+	13	1288		c.e13-1		PDE8A_ENST00000339708.5_Splice_Site|PDE8A_ENST00000557819.2_Splice_Site|PDE8A_ENST00000557957.1_Splice_Site|PDE8A_ENST00000394553.1_Splice_Site			O60658	PDE8A_HUMAN	phosphodiesterase 8A						cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGTTTCTACAGATAATCAGAC	0.348													False	0	False	15:85652283	0	A	85652283	G	A	85652283	5	1	88	1	0	0	0	0	0	0	1	0	11721	956	33	2	1082	2	PDE8A	15	85652283	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41871	85652283	16879109	15105	22817											
PDE8A	5151	broad.mit.edu	37	chr15	85658679	85658679	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttatcaggatggtttgCgaagactatcagggaatgaa	11	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85658679C>T	ENST00000310298.4	+	16	1612	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R408*|PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R382*|PDE8A_ENST00000394553.1_Nonsense_Mutation_p.R454*			O60658	PDE8A_HUMAN	phosphodiesterase 8A	454					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GGATGGTTTGCGAAGACTATC	0.358													False	0	False	15:85658679	0	T	85658679	C	T	85658679	4	4	88	1	0	0	0	0	0	1	0	0	11721	760	27	1	1418	1	PDE8A	15	85658679	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6396	85658679	16872713	15106	22818											
AKAP13	11214	broad.mit.edu	37	chr15	86076846	86076846	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaaacagtgaaggtgcaGctctgtgcttccaaagaggg	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86076846G>T	ENST00000394518.2	+	4	308	c.213G>T	c.(211-213)caG>caT	p.Q71H	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q71H|AKAP13_ENST00000560302.1_Missense_Mutation_p.Q71H	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	71					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGAAGGTGCAGCTCTGTGCTT	0.468													False	0	False	15:86076846	0	T	86076846	G	T	86076846	3	4	88	1	0	0	0	0	1	0	0	0	449	962	34	3	223	3	AKAP13	15	86076846	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	418167	86076846	16454546	15107	22819											
AKAP13	11214	broad.mit.edu	37	chr15	86122939	86122939	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagttccctggatggtaacaAacctgctgagtcttcacttg	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86122939A>G	ENST00000394518.2	+	7	1735	c.1640A>G	c.(1639-1641)aAa>aGa	p.K547R	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.K547R	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	547					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATGGTAACAAACCTGCTGAG	0.488													False	0	True	15:86122939	0	G	86122939	A	G	86122939	3	3	88	1	0	0	0	0	1	0	0	0	449	14	1	4	1662	4	AKAP13	15	86122939	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46093	86122939	16408453	15108	22820											
AKAP13	11214	broad.mit.edu	37	chr15	86124899	86124899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctccccacagacatggaGctctcagcccatgatgatgg	11	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86124899G>A	ENST00000394518.2	+	7	3695	c.3600G>A	c.(3598-3600)gaG>gaA	p.E1200E	AKAP13_ENST00000361243.2_Silent_p.E1200E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1200					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAGACATGGAGCTCTCAGCCC	0.587													False	0	False	15:86124899	0	A	86124899	G	A	86124899	2	1	88	1	0	0	0	0	0	0	0	1	449	962	34	2		2	AKAP13	15	86124899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1960	86124899	16406493	15109	22821											
AKAP13	11214	broad.mit.edu	37	chr15	86125099	86125099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgaacaagtcaaggccgctgGagcactgcttactgaggggg	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86125099G>A	ENST00000394518.2	+	7	3895	c.3800G>A	c.(3799-3801)gGa>gAa	p.G1267E	AKAP13_ENST00000361243.2_Missense_Mutation_p.G1267E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1267					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAGGCCGCTGGAGCACTGCTT	0.552													False	0	False	15:86125099	0	A	86125099	G	A	86125099	3	1	88	1	0	0	0	0	1	0	0	0	449	1174	41	2	3822	2	AKAP13	15	86125099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200	86125099	16406293	15110	22822											
AKAP13	11214	broad.mit.edu	37	chr15	86225399	86225399	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttttctagattcacggccCttccacagtaccttccacaa	5	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86225399C>A	ENST00000394518.2	+	15	5207	c.5112C>A	c.(5110-5112)ccC>ccA	p.P1704P	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_5'UTR|AKAP13_ENST00000361243.2_Silent_p.P1708P	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1704					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATTCACGGCCCTTCCACAGTA	0.333													False	0	True	15:86225399	0	A	86225399	C	A	86225399	2	1	88	1	0	0	0	0	0	0	0	1	449	668	24	3		3	AKAP13	15	86225399	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100300	86225399	16305993	15111	22823											
AGBL1	123624	broad.mit.edu	37	chr15	86800203	86800203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtgcctatgccttcccGgtccccgggtgcatcaccac	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86800203G>A	ENST00000441037.2	+	7	812	c.717G>A	c.(715-717)ccG>ccA	p.P239P	AGBL1_ENST00000421325.2_Silent_p.P239P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	239					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGCCTTCCCGGTCCCCGGGT	0.507													False	0	True	15:86800203	0	A	86800203	G	A	86800203	2	1	88	1	0	0	0	0	0	0	0	1	375	1103	39	1		1	AGBL1	15	86800203	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	574804	86800203	15731189	15112	22824											
AGBL1	123624	broad.mit.edu	37	chr15	86822881	86822881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctttagaaatcattatcGccagagtacagctgttgcag	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86822881G>A	ENST00000441037.2	+	15	2044	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	AGBL1_ENST00000421325.2_Missense_Mutation_p.R650H|AGBL1_ENST00000389298.3_Missense_Mutation_p.R381H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	650					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AATCATTATCGCCAGAGTACA	0.507													False	0	False	15:86822881	0	A	86822881	G	A	86822881	3	1	88	1	0	0	0	0	1	0	0	0	375	1087	38	1	2003	1	AGBL1	15	86822881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22678	86822881	15708511	15113	22825											
AGBL1	123624	broad.mit.edu	37	chr15	86822914	86822914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcaggcggagcatctgGgaagtgctactataccctca	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86822914G>A	ENST00000441037.2	+	15	2077	c.1982G>A	c.(1981-1983)gGg>gAg	p.G661E	AGBL1_ENST00000421325.2_Missense_Mutation_p.G661E|AGBL1_ENST00000389298.3_Missense_Mutation_p.G392E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	661					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGAGCATCTGGGAAGTGCTAC	0.522													False	0	True	15:86822914	0	A	86822914	G	A	86822914	3	1	88	1	0	0	0	0	1	0	0	0	375	1232	43	2	2036	2	AGBL1	15	86822914	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	86822914	15708478	15114	22826											
AGBL1	123624	broad.mit.edu	37	chr15	87217645	87217645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgagtgctgaggaggacGctctggaccagcacctccaa	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:87217645G>A	ENST00000441037.2	+	22	3156	c.3061G>A	c.(3061-3063)Gct>Act	p.A1021T	AGBL1_ENST00000389298.3_Missense_Mutation_p.A752T|AGBL1_ENST00000421325.2_Missense_Mutation_p.A1021T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1021					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGAGGAGGACGCTCTGGACCA	0.532													False	0	False	15:87217645	0	A	87217645	G	A	87217645	3	1	88	1	0	0	0	0	1	0	0	0	375	1087	38	1	3143	1	AGBL1	15	87217645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	394731	87217645	15313747	15115	22827											
NTRK3	4916	broad.mit.edu	37	chr15	88420315	88420315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggggcagactcggggccGctccaaaacacgaccttggg	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88420315G>A	ENST00000394480.2	-	19	2650	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	NTRK3_ENST00000360948.2_Missense_Mutation_p.R791W|NTRK3_ENST00000557856.1_Missense_Mutation_p.R769W|NTRK3_ENST00000355254.2_Missense_Mutation_p.R777W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R783W	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3		Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACTCGGGGCCGCTCCAAAACA	0.527			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			False	0	False	15:88420315	0	A	88420315	G	A	88420315	3	1	88	1	0	0	0	0	1	0	0	0	10776	1086	38	1	152	1	NTRK3	15	88420315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1202670	88420315	14111077	15116	22828											
NTRK3	4916	broad.mit.edu	37	chr15	88472622	88472622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcacccttggcctggcGtggctgtccatccacaagga	11	15	1	0	rs139392904	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88472622G>A	ENST00000394480.2	-	17	2254	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	NTRK3_ENST00000542733.2_Missense_Mutation_p.R547C|NTRK3_ENST00000558676.1_Missense_Mutation_p.R637C|NTRK3_ENST00000360948.2_Missense_Mutation_p.R645C|NTRK3_ENST00000557856.1_Missense_Mutation_p.R637C|NTRK3_ENST00000355254.2_Missense_Mutation_p.R645C|NTRK3_ENST00000357724.2_Missense_Mutation_p.R637C	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3		Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGCCTGGCGTGGCTGTCCA	0.587			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			False	0	False	15:88472622	0	A	88472622	G	A	88472622	3	1	88	1	0	0	0	0	1	0	0	0	10776	1145	40	1	602	1	NTRK3	15	88472622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52307	88472622	14058770	15117	22829											
NTRK3	4916	broad.mit.edu	37	chr15	88522688	88522688	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggattcaacataatttctCtgaaacctataaaaaacaaa	3	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88522688C>A	ENST00000317501.3	-	15	1888	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I	NTRK3_ENST00000394480.2_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.R576I	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATAATTTCTCTGAAACCTAT	0.343			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			False	0	False	15:88522688	0	A	88522688	C	A	88522688	3	1	88	1	0	0	0	0	1	0	0	0	10776	913	32	3	1074	3	NTRK3	15	88522688	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50066	88522688	14008704	15118	22830											
NTRK3	4916	broad.mit.edu	37	chr15	88669595	88669595	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagcagcaagtccaactgCtatggatacctgtgaggaac	10	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88669595C>A	ENST00000394480.2	-	13	1624	c.1303G>T	c.(1303-1305)Gca>Tca	p.A435S	NTRK3_ENST00000317501.3_Missense_Mutation_p.A435S|NTRK3_ENST00000542733.2_Missense_Mutation_p.A337S|NTRK3_ENST00000558676.1_Missense_Mutation_p.A427S|NTRK3_ENST00000360948.2_Missense_Mutation_p.A435S|NTRK3_ENST00000557856.1_Missense_Mutation_p.A427S|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000355254.2_Missense_Mutation_p.A435S|NTRK3_ENST00000357724.2_Missense_Mutation_p.A427S|NTRK3_ENST00000540489.2_Missense_Mutation_p.A435S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGTCCAACTGCTATGGATACC	0.438			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			False	0	False	15:88669595	0	A	88669595	C	A	88669595	3	1	88	1	0	0	0	0	1	0	0	0	10776	797	28	3	1510	3	NTRK3	15	88669595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146907	88669595	13861797	15119	22831											
NTRK3	4916	broad.mit.edu	37	chr15	88799241	88799241	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaagaggttcccatcgtcCggccgccggcaattgatctc	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88799241C>T	ENST00000394480.2	-	3	465	c.144G>A	c.(142-144)ccG>ccA	p.P48P	NTRK3_ENST00000317501.3_Silent_p.P48P|NTRK3_ENST00000558676.1_Silent_p.P48P|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000360948.2_Silent_p.P48P|NTRK3_ENST00000557856.1_Silent_p.P48P|NTRK3_ENST00000355254.2_Silent_p.P48P|NTRK3_ENST00000357724.2_Silent_p.P48P|NTRK3_ENST00000540489.2_Silent_p.P48P	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCCATCGTCCGGCCGCCGGC	0.547			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			False	0	False	15:88799241	0	T	88799241	C	T	88799241	2	4	88	1	0	0	0	0	0	0	0	1	10776	639	23	1		1	NTRK3	15	88799241	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129646	88799241	13732151	15120	22832											
MRPS11	64963	broad.mit.edu	37	chr15	89018411	89018411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgtggcacagagggatttCggaatgccaagaagggcaca	14	9	0	2	rs149047976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89018411C>T	ENST00000325844.4	+	4	617	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	MRPS11_ENST00000353598.6_Missense_Mutation_p.R85W|MRPS11_ENST00000557974.1_3'UTR	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	118					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	p.R118W(1)		large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGAGGGATTTCGGAATGCCAA	0.517													False	0	True	15:89018411	0	T	89018411	C	T	89018411	3	4	88	1	0	0	0	0	1	0	0	0	9889	875	31	1	366	1	MRPS11	15	89018411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219170	89018411	13512981	15121	22833											
DET1	55070	broad.mit.edu	37	chr15	89073957	89073957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttccacattcgcagctgcCgcagttggtcaaaatactgg	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89073957C>T	ENST00000564406.1	-	3	1173	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q	DET1_ENST00000444300.1_Missense_Mutation_p.R338Q|DET1_ENST00000268148.8_Missense_Mutation_p.R327Q	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	327						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TCGCAGCTGCCGCAGTTGGTC	0.493													False	0	False	15:89073957	0	T	89073957	C	T	89073957	3	4	88	1	0	0	0	0	1	0	0	0	4480	652	23	1	688	1	DET1	15	89073957	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55546	89073957	13457435	15122	22834											
AEN	64782	broad.mit.edu	37	chr15	89169883	89169883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctatgacaagtacatcaGgcctgagatgcccatcgctg	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89169883G>A	ENST00000332810.3	+	2	594	c.443G>A	c.(442-444)aGg>aAg	p.R148K	AEN_ENST00000379231.3_Missense_Mutation_p.R148K	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	148	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAGTACATCAGGCCTGAGATG	0.602													False	0	False	15:89169883	0	A	89169883	G	A	89169883	3	1	88	1	0	0	0	0	1	0	0	0	351	1000	35	2	445	2	AEN	15	89169883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95926	89169883	13361509	15123	22835											
ACAN	176	broad.mit.edu	37	chr15	89398733	89398733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctctggagtaggagacCtcagtgggcttccttctgga	13	11	3	1	rs141525827	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89398733C>A	ENST00000439576.2	+	12	3291	c.2917C>A	c.(2917-2919)Ctc>Atc	p.L973I	ACAN_ENST00000561243.1_Missense_Mutation_p.L973I|ACAN_ENST00000352105.7_Missense_Mutation_p.L973I|ACAN_ENST00000559004.1_Missense_Mutation_p.L973I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	973					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTAGGAGACCTCAGTGGGCT	0.557													False	0	False	15:89398733	0	A	89398733	C	A	89398733	3	1	88	1	0	0	0	0	1	0	0	0	117	681	24	3	2959	3	ACAN	15	89398733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228850	89398733	13132659	15124	22836											
ACAN	176	broad.mit.edu	37	chr15	89400745	89400745	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccttggaagtggcccaccCtctggcctgcctgactttag	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400745C>A	ENST00000439576.2	+	12	5303	c.4929C>A	c.(4927-4929)ccC>ccA	p.P1643P	ACAN_ENST00000561243.1_Silent_p.P1643P|ACAN_ENST00000352105.7_Silent_p.P1643P|ACAN_ENST00000559004.1_Silent_p.P1643P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1643					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGCCCACCCTCTGGCCTGC	0.522													False	0	True	15:89400745	0	A	89400745	C	A	89400745	2	1	88	1	0	0	0	0	0	0	0	1	117	668	24	3		3	ACAN	15	89400745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2012	89400745	13130647	15125	22837											
ACAN	176	broad.mit.edu	37	chr15	89400789	89400789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttccatctggattcccaaCtgtttccctagtggattcta	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400789C>T	ENST00000439576.2	+	12	5347	c.4973C>T	c.(4972-4974)aCt>aTt	p.T1658I	ACAN_ENST00000561243.1_Missense_Mutation_p.T1658I|ACAN_ENST00000352105.7_Missense_Mutation_p.T1658I|ACAN_ENST00000559004.1_Missense_Mutation_p.T1658I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1658					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGATTCCCAACTGTTTCCCTA	0.532													False	0	False	15:89400789	0	T	89400789	C	T	89400789	3	4	88	1	0	0	0	0	1	0	0	0	117	565	20	2	5015	2	ACAN	15	89400789	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	89400789	13130603	15126	22838											
ACAN	176	broad.mit.edu	37	chr15	89400831	89400831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attggtggaagtggtcacagCctccactgcaagtgaactgg	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400831C>A	ENST00000439576.2	+	12	5389	c.5015C>A	c.(5014-5016)gCc>gAc	p.A1672D	ACAN_ENST00000561243.1_Missense_Mutation_p.A1672D|ACAN_ENST00000352105.7_Missense_Mutation_p.A1672D|ACAN_ENST00000559004.1_Missense_Mutation_p.A1672D	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1672					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGTCACAGCCTCCACTGCA	0.537													False	0	False	15:89400831	0	A	89400831	C	A	89400831	3	1	88	1	0	0	0	0	1	0	0	0	117	739	26	3	5057	3	ACAN	15	89400831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	89400831	13130561	15127	22839											
ACAN	176	broad.mit.edu	37	chr15	89402178	89402178	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgccgcccctgaggccagcaGagaagattctgggtcccctg	13	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89402178G>T	ENST00000439576.2	+	12	6736	c.6362G>T	c.(6361-6363)aGa>aTa	p.R2121I	ACAN_ENST00000561243.1_Missense_Mutation_p.R2121I|ACAN_ENST00000352105.7_Missense_Mutation_p.R2121I|ACAN_ENST00000559004.1_Missense_Mutation_p.R2121I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2121					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGGCCAGCAGAGAAGATTCT	0.562													False	0	False	15:89402178	0	T	89402178	G	T	89402178	3	4	88	1	0	0	0	0	1	0	0	0	117	942	33	3	6404	3	ACAN	15	89402178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1347	89402178	13129214	15128	22840											
ACAN	176	broad.mit.edu	37	chr15	89403630	89403630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagggacacgtcatatgCctgtgcccccctggctacac	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89403630C>T	ENST00000439576.2	+	13	7280	c.6906C>T	c.(6904-6906)tgC>tgT	p.C2302C	ACAN_ENST00000561243.1_Silent_p.C2302C|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000559004.1_Intron	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2302					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACGTCATATGCCTGTGCCCCC	0.632													False	0	False	15:89403630	0	T	89403630	C	T	89403630	2	4	88	1	0	0	0	0	0	0	0	1	117	747	26	2		2	ACAN	15	89403630	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1452	89403630	13127762	15129	22841											
HAPLN3	145864	broad.mit.edu	37	chr15	89421380	89421380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggccatggaacttccaggCggcaaagagctgtcccacct	11	14	0	1	rs145650819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89421380C>T	ENST00000359595.3	-	5	1118	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	HAPLN3_ENST00000562889.1_Missense_Mutation_p.A364T	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	302	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					AACTTCCAGGCGGCAAAGAGC	0.632													False	0	False	15:89421380	0	T	89421380	C	T	89421380	3	4	88	1	0	0	0	0	1	0	0	0	7003	768	27	1	182	1	HAPLN3	15	89421380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17750	89421380	13110012	15130	22842											
HAPLN3	145864	broad.mit.edu	37	chr15	89421412	89421412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccaccttggcgatcgtgGcatcatcttcctggcaggcc	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89421412G>A	ENST00000359595.3	-	5	1086	c.872C>T	c.(871-873)gCc>gTc	p.A291V	HAPLN3_ENST00000562889.1_Missense_Mutation_p.A353V	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	291	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GGCGATCGTGGCATCATCTTC	0.647													False	0	False	15:89421412	0	A	89421412	G	A	89421412	3	1	88	1	0	0	0	0	1	0	0	0	7003	1203	42	2	214	2	HAPLN3	15	89421412	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32	89421412	13109980	15131	22843											
HAPLN3	145864	broad.mit.edu	37	chr15	89424833	89424833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccatttgacacgcacaCgccgcggggagaccagggcc	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89424833C>T	ENST00000359595.3	-	3	462	c.248G>A	c.(247-249)cGt>cAt	p.R83H	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R145H	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	83	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GACACGCACACGCCGCGGGGA	0.657													False	0	True	15:89424833	0	T	89424833	C	T	89424833	3	4	88	1	0	0	0	0	1	0	0	0	7003	536	19	1	846	1	HAPLN3	15	89424833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3421	89424833	13106559	15132	22844											
RLBP1	6017	broad.mit.edu	37	chr15	89758374	89758374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atacttgtcccgactagagaGgacaccagggtagccagctt	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89758374G>T	ENST00000268125.5	-	6	881	c.442C>A	c.(442-444)Ctc>Atc	p.L148I		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	148	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CGACTAGAGAGGACACCAGGG	0.542													False	0	True	15:89758374	0	T	89758374	G	T	89758374	3	4	88	1	0	0	0	0	1	0	0	0	13467	1000	35	3	527	3	RLBP1	15	89758374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	333541	89758374	12773018	15133	22845											
POLG	5428	broad.mit.edu	37	chr15	89865049	89865049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccacttggggcaggatgGccccatagaggccttcctca	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89865049G>A	ENST00000268124.5	-	16	2849	c.2516C>T	c.(2515-2517)gCc>gTc	p.A839V	POLG_ENST00000442287.2_Missense_Mutation_p.A839V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	839					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGCAGGATGGCCCCATAGAG	0.622								DNA polymerases (catalytic subunits)					False	0	True	15:89865049	0	A	89865049	G	A	89865049	3	1	88	1	0	0	0	0	1	0	0	0	12269	1203	42	2	1235	2	POLG	15	89865049	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106675	89865049	12666343	15134	22846											
POLG	5428	broad.mit.edu	37	chr15	89872050	89872050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actgctgatgtccagccagtCccaggatgagatctggggaa	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872050C>T	ENST00000268124.5	-	5	1369	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	POLG_ENST00000442287.2_Missense_Mutation_p.D346N	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	346					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCCAGCCAGTCCCAGGATGAG	0.582								DNA polymerases (catalytic subunits)					False	0	True	15:89872050	0	T	89872050	C	T	89872050	3	4	88	1	0	0	0	0	1	0	0	0	12269	855	30	2	2759	2	POLG	15	89872050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7001	89872050	12659342	15135	22847											
POLG	5428	broad.mit.edu	37	chr15	89872175	89872175	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggcagtgtgctctcaccGctgggcctcttctggctttc	11	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872175G>A	ENST00000268124.5	-	4	1355	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	POLG_ENST00000442287.2_Splice_Site_p.A341V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	341					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGCTCTCACCGCTGGGCCTCT	0.632								DNA polymerases (catalytic subunits)					False	0	False	15:89872175	0	A	89872175	G	A	89872175	5	1	88	1	0	0	0	0	0	0	1	0	12269	1101	38	1	2777	1	POLG	15	89872175	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125	89872175	12659217	15136	22848											
POLG	5428	broad.mit.edu	37	chr15	89873447	89873447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggatgaggtcagccggCgacagctggctggtccaaga	18	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89873447C>T	ENST00000268124.5	-	3	1053	c.720G>A	c.(718-720)tcG>tcA	p.S240S	POLG_ENST00000442287.2_Silent_p.S240S	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	240					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGTCAGCCGGCGACAGCTGGC	0.612								DNA polymerases (catalytic subunits)					False	0	False	15:89873447	0	T	89873447	C	T	89873447	2	4	88	1	0	0	0	0	0	0	0	1	12269	755	27	1		1	POLG	15	89873447	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1272	89873447	12657945	15137	22849											
PEX11A	8800	broad.mit.edu	37	chr15	90229721	90229721	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcattaccaccttctctTtgccagctttgggctctaac	6	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90229721T>G	ENST00000300056.3	-	2	262	c.113A>C	c.(112-114)aAa>aCa	p.K38T	PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561224.1_Missense_Mutation_p.K38T|PEX11A_ENST00000559170.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.K38T	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	38					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CACCTTCTCTTTGCCAGCTTT	0.408													False	0	True	15:90229721	0	G	90229721	T	G	90229721	3	3	88	1	0	0	0	0	1	0	0	0	11806	1841	64	4	638	4	PEX11A	15	90229721	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	356274	90229721	12301671	15138	22850											
ANPEP	290	broad.mit.edu	37	chr15	90340856	90340856	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaacatgagcttgaagtagcTcaggctgctcagggcggcct	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90340856T>A	ENST00000300060.6	-	15	2420	c.2107A>T	c.(2107-2109)Agc>Tgc	p.S703C	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	703	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TTGAAGTAGCTCAGGCTGCTC	0.572													False	0	False	15:90340856	0	A	90340856	T	A	90340856	3	1	88	1	0	0	0	0	1	0	0	0	710	1551	54	5	824	5	ANPEP	15	90340856	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	111135	90340856	12190536	15139	22851											
ANPEP	290	broad.mit.edu	37	chr15	90342699	90342699	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctgaatcttcctccagttCtcttcgtcgtagttcacccg	7	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90342699C>A	ENST00000300060.6	-	13	2224	c.1911G>T	c.(1909-1911)gaG>gaT	p.E637D	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	637	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCCTCCAGTTCTCTTCGTCGT	0.577													False	0	False	15:90342699	0	A	90342699	C	A	90342699	3	1	88	1	0	0	0	0	1	0	0	0	710	912	32	3	1028	3	ANPEP	15	90342699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1843	90342699	12188693	15140	22852											
ANPEP	290	broad.mit.edu	37	chr15	90346982	90346982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccagtgcatccactgCcatcacgcggtacacatcat	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90346982C>T	ENST00000300060.6	-	8	1646	c.1333G>A	c.(1333-1335)Gca>Aca	p.A445T		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	445	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCATCCACTGCCATCACGCGG	0.612													False	0	False	15:90346982	0	T	90346982	C	T	90346982	3	4	88	1	0	0	0	0	1	0	0	0	710	739	26	2	1626	2	ANPEP	15	90346982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4283	90346982	12184410	15141	22853											
ANPEP	290	broad.mit.edu	37	chr15	90348375	90348375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatgaaggccagcaagtaCgtggacatcttgggcgtggt	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90348375C>T	ENST00000300060.6	-	4	1144	c.831G>A	c.(829-831)acG>acA	p.T277T		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	277	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.T277T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CCAGCAAGTACGTGGACATCT	0.567													False	0	False	15:90348375	0	T	90348375	C	T	90348375	2	4	88	1	0	0	0	0	0	0	0	1	710	523	19	1		1	ANPEP	15	90348375	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1393	90348375	12183017	15142	22854											
IDH2	3418	broad.mit.edu	37	chr15	90631667	90631667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccactccttgacaccactgCcatcttttggggtgaagacc	8	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631667C>T	ENST00000330062.3	-	5	715	c.602G>A	c.(601-603)gGc>gAc	p.G201D	IDH2_ENST00000559482.1_Missense_Mutation_p.G92D|IDH2_ENST00000540499.2_Missense_Mutation_p.G149D|IDH2_ENST00000539790.1_Missense_Mutation_p.G71D	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	201					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GACACCACTGCCATCTTTTGG	0.587			M		GBM								False	0	False	15:90631667	0	T	90631667	C	T	90631667	3	4	88	1	0	0	0	0	1	0	0	0	7545	739	26	2	784	2	IDH2	15	90631667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283292	90631667	11899725	15143	22855											
IDH2	3418	broad.mit.edu	37	chr15	90631926	90631926	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggaagacagtcccccccaGgatgttccggatagttccat	10	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631926G>T	ENST00000330062.3	-	4	540	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.L91M|IDH2_ENST00000539790.1_Missense_Mutation_p.L13M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	143					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GTCCCCCCCAGGATGTTCCGG	0.552			M		GBM								False	0	False	15:90631926	0	T	90631926	G	T	90631926	3	4	88	1	0	0	0	0	1	0	0	0	7545	991	35	3	963	3	IDH2	15	90631926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	259	90631926	11899466	15144	22856											
IDH2	3418	broad.mit.edu	37	chr15	90631955	90631955	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatagttccattgggacttTtccacatcttcttcagcttg	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631955T>C	ENST00000330062.3	-	4	511	c.398A>G	c.(397-399)aAa>aGa	p.K133R	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.K81R|IDH2_ENST00000539790.1_Missense_Mutation_p.K3R	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	133					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATTGGGACTTTTCCACATCTT	0.517			M		GBM								False	0	True	15:90631955	0	C	90631955	T	C	90631955	3	2	88	1	0	0	0	0	1	0	0	0	7545	1841	64	4	992	4	IDH2	15	90631955	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	29	90631955	11899437	15145	22857											
SEMA4B	10509	broad.mit.edu	37	chr15	90766793	90766793	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgactctccctccagggCgatgagggtggagagcgggt	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90766793C>T	ENST00000411539.2	+	8	1124	c.864C>T	c.(862-864)ggC>ggT	p.G288G	SEMA4B_ENST00000379122.3_Silent_p.G283G|SEMA4B_ENST00000332496.6_Silent_p.G288G	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCCTCCAGGGCGATGAGGGTG	0.647													False	0	True	15:90766793	0	T	90766793	C	T	90766793	2	4	88	1	0	0	0	0	0	0	0	1	14113	755	27	1		1	SEMA4B	15	90766793	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134838	90766793	11764599	15146	22858											
SEMA4B	10509	broad.mit.edu	37	chr15	90771368	90771368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccagcagctggtagccagCtactgcccagaggtggtgga	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90771368C>T	ENST00000411539.2	+	14	2267	c.2007C>T	c.(2005-2007)agC>agT	p.S669S	SEMA4B_ENST00000379122.3_Silent_p.S664S|SEMA4B_ENST00000332496.6_Silent_p.S669S	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGGTAGCCAGCTACTGCCCAG	0.617													False	0	False	15:90771368	0	T	90771368	C	T	90771368	2	4	88	1	0	0	0	0	0	0	0	1	14113	796	28	2		2	SEMA4B	15	90771368	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4575	90771368	11760024	15147	22859											
SEMA4B	10509	broad.mit.edu	37	chr15	90771863	90771863	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggctcggagatccgtgaCtctgtggtgtgagagctgac	15	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90771863C>A	ENST00000411539.2	+	14	2762	c.2502C>A	c.(2500-2502)gaC>gaA	p.D834E	SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000332496.6_Missense_Mutation_p.D834E	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B									p.C821fs*>1(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AGATCCGTGACTCTGTGGTGT	0.627													False	0	False	15:90771863	0	A	90771863	C	A	90771863	3	1	88	1	0	0	0	0	1	0	0	0	14113	564	20	3	2556	3	SEMA4B	15	90771863	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	495	90771863	11759529	15148	22860											
CIB1	10519	broad.mit.edu	37	chr15	90774380	90774380	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagccgtgtgtcctcgccctCtcccgtgaggcagttcacca	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90774380C>A	ENST00000328649.6	-	5	573	c.412G>T	c.(412-414)Gag>Tag	p.E138*		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	138	EF-hand 1.				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCTCGCCCTCTCCCGTGAGG	0.582													False	0	False	15:90774380	0	A	90774380	C	A	90774380	4	1	88	1	0	0	0	0	0	1	0	0	3443	922	32	3	175	3	CIB1	15	90774380	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2517	90774380	11757012	15149	22861											
NGRN	51335	broad.mit.edu	37	chr15	90809089	90809089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgggagccggaggaacggGagctgcaggaggtggagagg	22	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90809089G>A	ENST00000379095.3	+	1	153	c.145G>A	c.(145-147)Gag>Aag	p.E49K	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_Intron	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	49					neuron differentiation	extracellular region|nucleus				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGAGGAACGGGAGCTGCAGGA	0.751													False	0	True	15:90809089	0	A	90809089	G	A	90809089	3	1	88	1	0	0	0	0	1	0	0	0	10467	1175	41	2	147	2	NGRN	15	90809089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34709	90809089	11722303	15150	22862											
NGRN	51335	broad.mit.edu	37	chr15	90814847	90814847	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggtcatccaagagagctgCagaagtactccagtgattct	10	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90814847C>T	ENST00000379095.3	+	3	711	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	235					neuron differentiation	extracellular region|nucleus				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AAGAGAGCTGCAGAAGTACTC	0.517													False	0	False	15:90814847	0	T	90814847	C	T	90814847	4	4	88	1	0	0	0	0	0	1	0	0	10467	711	25	2	713	2	NGRN	15	90814847	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5758	90814847	11716545	15151	22863											
ZNF774	342132	broad.mit.edu	37	chr15	90904469	90904469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatgtaacaagagcttccGtcagaaagcgcatcttttat	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90904469G>A	ENST00000354377.3	+	4	1592	c.1406G>A	c.(1405-1407)cGt>cAt	p.R469H	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGAGCTTCCGTCAGAAAGCG	0.433													False	0	False	15:90904469	0	A	90904469	G	A	90904469	3	1	88	1	0	0	0	0	1	0	0	0	18229	1145	40	1	1416	1	ZNF774	15	90904469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89622	90904469	11626923	15152	22864											
IQGAP1	8826	broad.mit.edu	37	chr15	91017342	91017342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttattcgggcaaacaaagCtcgggatgactacaagactc	9	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91017342C>T	ENST00000268182.5	+	22	2676	c.2552C>T	c.(2551-2553)gCt>gTt	p.A851V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A279V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	851	IQ 4.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCAAACAAAGCTCGGGATGAC	0.433													False	0	False	15:91017342	0	T	91017342	C	T	91017342	3	4	88	1	0	0	0	0	1	0	0	0	7864	797	28	2	2638	2	IQGAP1	15	91017342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112873	91017342	11514050	15153	22865											
CRTC3	64784	broad.mit.edu	37	chr15	91083357	91083357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccagctgcggagcagtgcGtcagagtttcaggtacctcc	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91083357G>A	ENST00000420329.2	+	2	366	c.219G>A	c.(217-219)gcG>gcA	p.A73A	CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_Silent_p.A73A|CRTC3_ENST00000268184.6_Silent_p.A73A	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	73	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GGAGCAGTGCGTCAGAGTTTC	0.423			T	MAML2	salivary gland mucoepidermoid								False	0	False	15:91083357	0	A	91083357	G	A	91083357	2	1	88	1	0	0	0	0	0	0	0	1	3924	1132	40	1		1	CRTC3	15	91083357	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66015	91083357	11448035	15154	22866											
BLM	641	broad.mit.edu	37	chr15	91303942	91303942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgattcctgccctacaGggaattctatgaaggagtta	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91303942G>A	ENST00000355112.3	+	7	1457	c.1339G>A	c.(1339-1341)Ggg>Agg	p.G447R	BLM_ENST00000560509.1_Missense_Mutation_p.G447R	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	447					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTGCCCTACAGGGAATTCTAT	0.438			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				False	0	True	15:91303942	0	A	91303942	G	A	91303942	3	1	88	1	0	0	0	0	1	0	0	0	1450	1000	35	2	1361	2	BLM	15	91303942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220585	91303942	11227450	15155	22867											
BLM	641	broad.mit.edu	37	chr15	91328228	91328228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttacagagagatgggctcGctgctcttgcttaccatgct	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91328228G>A	ENST00000355112.3	+	14	2858	c.2740G>A	c.(2740-2742)Gct>Act	p.A914T	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.A914T	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	914	Helicase C-terminal.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGATGGGCTCGCTGCTCTTGC	0.473			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				False	0	False	15:91328228	0	A	91328228	G	A	91328228	3	1	88	1	0	0	0	0	1	0	0	0	1450	1087	38	1	2790	1	BLM	15	91328228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24286	91328228	11203164	15156	22868											
BLM	641	broad.mit.edu	37	chr15	91346826	91346826	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgacacaatgccgaaagacTttttaaaaagctgatacttg	7	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91346826T>G	ENST00000355112.3	+	18	3552	c.3434T>G	c.(3433-3435)cTt>cGt	p.L1145R	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1145					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GCCGAAAGACTTTTTAAAAAG	0.383			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				False	0	True	15:91346826	0	G	91346826	T	G	91346826	3	3	88	1	0	0	0	0	1	0	0	0	1450	1609	56	4	3500	4	BLM	15	91346826	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18598	91346826	11184566	15157	22869											
BLM	641	broad.mit.edu	37	chr15	91347508	91347508	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatgtcttggagaacttacaGaagtctgcaaatctctgggg	11	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91347508G>T	ENST00000355112.3	+	19	3788	c.3670G>T	c.(3670-3672)Gaa>Taa	p.E1224*	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1224	HRDC.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGAACTTACAGAAGTCTGCAA	0.388			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				False	0	False	15:91347508	0	T	91347508	G	T	91347508	4	4	88	1	0	0	0	0	0	1	0	0	1450	943	33	3	3740	3	BLM	15	91347508	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	682	91347508	11183884	15158	22870											
FURIN	5045	broad.mit.edu	37	chr15	91424215	91424215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgcccctgaggggctgccCgtacctccagaaagcagtgg	13	15	0	2	rs146566561	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91424215C>T	ENST00000268171.3	+	15	2016	c.1737C>T	c.(1735-1737)ccC>ccT	p.P579P		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	579	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGGGGCTGCCCGTACCTCCAG	0.622													False	0	True	15:91424215	0	T	91424215	C	T	91424215	2	4	88	1	0	0	0	0	0	0	0	1	6141	639	23	1		1	FURIN	15	91424215	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76707	91424215	11107177	15159	22871											
FURIN	5045	broad.mit.edu	37	chr15	91424593	91424593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttcgccccccaagtcctcGatacgcactatagcaccgag	9	16	0	0	rs145582614	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91424593G>A	ENST00000268171.3	+	16	2149	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	624	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCAAGTCCTCGATACGCACTA	0.662													False	0	False	15:91424593	0	A	91424593	G	A	91424593	3	1	88	1	0	0	0	0	1	0	0	0	6141	1058	37	1	1928	1	FURIN	15	91424593	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	378	91424593	11106799	15160	22872											
FES	2242	broad.mit.edu	37	chr15	91435948	91435948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtttcaggggaactttggCgaagtgttcagcggacgcct	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91435948C>T	ENST00000328850.3	+	14	1861	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G	FES_ENST00000394302.1_Silent_p.G445G|FES_ENST00000394300.3_Silent_p.G515G|FES_ENST00000444422.2_Silent_p.G503G|FES_ENST00000450438.2_Silent_p.G445G|FES_ENST00000414248.2_Silent_p.G445G	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	573	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGAACTTTGGCGAAGTGTTCA	0.597													False	0	False	15:91435948	0	T	91435948	C	T	91435948	2	4	88	1	0	0	0	0	0	0	0	1	5860	755	27	1		1	FES	15	91435948	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11355	91435948	11095444	15161	22873											
MAN2A2	4122	broad.mit.edu	37	chr15	91447469	91447469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaggtgacagtgtgtgGggctgccatcttctgtgtgg	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91447469G>A	ENST00000360468.3	+	1	50	c.32G>A	c.(31-33)gGg>gAg	p.G11E	MAN2A2_ENST00000559717.1_Missense_Mutation_p.G11E	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	11					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACAGTGTGTGGGGCTGCCATC	0.567													False	0	True	15:91447469	0	A	91447469	G	A	91447469	3	1	88	1	0	0	0	0	1	0	0	0	9282	1232	43	2	34	2	MAN2A2	15	91447469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11521	91447469	11083923	15162	22874											
MAN2A2	4122	broad.mit.edu	37	chr15	91461902	91461902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctaccctcggcggagaccGcactcatcttacaccgcaag	8	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91461902G>A	ENST00000360468.3	+	21	3235	c.3217G>A	c.(3217-3219)Gca>Aca	p.A1073T	MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000559717.1_Missense_Mutation_p.A1073T|MAN2A2_ENST00000430376.2_Missense_Mutation_p.A263T|MAN2A2_ENST00000431652.2_Missense_Mutation_p.A581T	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1073					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCGGAGACCGCACTCATCTT	0.607													False	0	False	15:91461902	0	A	91461902	G	A	91461902	3	1	88	1	0	0	0	0	1	0	0	0	9282	1087	38	1	3299	1	MAN2A2	15	91461902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14433	91461902	11069490	15163	22875											
MAN2A2	4122	broad.mit.edu	37	chr15	91463007	91463007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgctacctttcgcctccGcttgggttagggcttcttgt	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91463007G>A	ENST00000360468.3	+	22	3461	c.3443G>A	c.(3442-3444)cGc>cAc	p.R1148H	MAN2A2_ENST00000559717.1_Missense_Mutation_p.R1148H|MAN2A2_ENST00000430376.2_Missense_Mutation_p.R338H|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R656H	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1148					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TTTCGCCTCCGCTTGGGTTAG	0.527													False	0	False	15:91463007	0	A	91463007	G	A	91463007	3	1	88	1	0	0	0	0	1	0	0	0	9282	1087	38	1	3529	1	MAN2A2	15	91463007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1105	91463007	11068385	15164	22876											
PRC1	9055	broad.mit.edu	37	chr15	91512344	91512344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggaactgtcagagagggacgGatccttctaagaacaaagaa	12	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91512344G>A	ENST00000394249.3	-	14	1833	c.1756C>T	c.(1756-1758)Ccg>Tcg	p.P586S	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361188.5_Intron|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000361919.3_Intron|PRC1_ENST00000442656.2_Intron	NM_003981.3	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	586	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GAGAGGGACGGATCCTTCTAA	0.488													False	0	False	15:91512344	0	A	91512344	G	A	91512344	3	1	88	1	0	0	0	0	1	0	0	0	12522	1174	41	2	114	2	PRC1	15	91512344	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49337	91512344	11019048	15165	22877											
VPS33B	26276	broad.mit.edu	37	chr15	91548319	91548319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctcaatgtagctggtgCtctcccggatgttgaacccc	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91548319C>T	ENST00000333371.3	-	15	1489	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	VPS33B_ENST00000535843.1_Missense_Mutation_p.S288N|VPS33B_ENST00000535906.1_Missense_Mutation_p.S352N	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	379					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGCTGGTGCTCTCCCGGAT	0.567													False	0	False	15:91548319	0	T	91548319	C	T	91548319	3	4	88	1	0	0	0	0	1	0	0	0	17286	797	28	2	753	2	VPS33B	15	91548319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35975	91548319	10983073	15166	22878											
SLCO3A1	28232	broad.mit.edu	37	chr15	92459545	92459545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaccccgacctcatctgccGcaaccggacggctaccaaca	8	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92459545G>A	ENST00000318445.6	+	2	717	c.503G>A	c.(502-504)cGc>cAc	p.R168H	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R168H	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	168				R -> L (in Ref. 7; AAH00585).	sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTCATCTGCCGCAACCGGACG	0.701													False	0	False	15:92459545	0	A	92459545	G	A	92459545	3	1	88	1	0	0	0	0	1	0	0	0	14808	1087	38	1	509	1	SLCO3A1	15	92459545	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	911226	92459545	10071847	15167	22879											
SLCO3A1	28232	broad.mit.edu	37	chr15	92459678	92459678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggaggaaggactcctcGctctatataggtaggagctg	15	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92459678G>A	ENST00000318445.6	+	2	850	c.636G>A	c.(634-636)tcG>tcA	p.S212S	SLCO3A1_ENST00000424469.2_Silent_p.S212S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	212					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			AGGACTCCTCGCTCTATATAG	0.582													False	0	False	15:92459678	0	A	92459678	G	A	92459678	2	1	88	1	0	0	0	0	0	0	0	1	14808	1074	38	1		1	SLCO3A1	15	92459678	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133	92459678	10071714	15168	22880											
SLCO3A1	28232	broad.mit.edu	37	chr15	92647576	92647576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtggctttctgctctgCggtgccttactcttcttctc	11	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92647576C>T	ENST00000318445.6	+	4	1027	c.813C>T	c.(811-813)tgC>tgT	p.C271C	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.C271C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	271					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TTCTGCTCTGCGGTGCCTTAC	0.577													False	0	True	15:92647576	0	T	92647576	C	T	92647576	2	4	88	1	0	0	0	0	0	0	0	1	14808	776	27	1		1	SLCO3A1	15	92647576	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187898	92647576	9883816	15169	22881											
CHD2	1106	broad.mit.edu	37	chr15	93521533	93521533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttcagcggacacagtcGtcatctttgactctgactgg	11	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:93521533G>A	ENST00000394196.4	+	21	3715	c.2647G>A	c.(2647-2649)Gtc>Atc	p.V883I	CHD2_ENST00000557381.1_Missense_Mutation_p.V883I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	883	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACACAGTCGTCATCTTTGA	0.493													False	0	False	15:93521533	0	A	93521533	G	A	93521533	3	1	88	1	0	0	0	0	1	0	0	0	3348	1145	40	1	2729	1	CHD2	15	93521533	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	873957	93521533	9009859	15170	22882											
MCTP2	55784	broad.mit.edu	37	chr15	94841508	94841508	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccatggatctggataAaccatctgtttggggctcat	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:94841508A>C	ENST00000357742.4	+	1	14	c.14A>C	c.(13-15)aAa>aCa	p.K5T	MCTP2_ENST00000543482.1_Missense_Mutation_p.K5T|MCTP2_ENST00000451018.3_Missense_Mutation_p.K5T|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	5					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GATCTGGATAAACCATCTGTT	0.433													False	0	True	15:94841508	0	C	94841508	A	C	94841508	3	2	88	1	0	0	0	0	1	0	0	0	9468	14	1	4	16	4	MCTP2	15	94841508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1319975	94841508	7689884	15171	22883											
MCTP2	55784	broad.mit.edu	37	chr15	94841523	94841523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggataaaccatctgtttgggGctcattaaaacagcggacca	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:94841523G>A	ENST00000357742.4	+	1	29	c.29G>A	c.(28-30)gGc>gAc	p.G10D	MCTP2_ENST00000543482.1_Missense_Mutation_p.G10D|MCTP2_ENST00000451018.3_Missense_Mutation_p.G10D|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	10					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTGTTTGGGGCTCATTAAAA	0.463													False	0	True	15:94841523	0	A	94841523	G	A	94841523	3	1	88	1	0	0	0	0	1	0	0	0	9468	1203	42	2	31	2	MCTP2	15	94841523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	94841523	7689869	15172	22884											
MCTP2	55784	broad.mit.edu	37	chr15	95013650	95013650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtatttcattccactgCggtacatcattttaatctgg	6	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:95013650C>T	ENST00000357742.4	+	20	2449	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	MCTP2_ENST00000451018.3_Missense_Mutation_p.R762W	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	817					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CATTCCACTGCGGTACATCAT	0.408													False	0	False	15:95013650	0	T	95013650	C	T	95013650	3	4	88	1	0	0	0	0	1	0	0	0	9468	759	27	1	2603	1	MCTP2	15	95013650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172127	95013650	7517742	15173	22885											
NR2F2	7026	broad.mit.edu	37	chr15	96875553	96875553	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtagcgacaagcagcagcaGcagcaacacatcgagtgcgt	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:96875553G>T	ENST00000394166.3	+	1	1608	c.219G>T	c.(217-219)caG>caT	p.Q73H	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	73	Poly-Gln.				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AGCAGCAGCAGCAGCAACACA	0.697													False	0	True	15:96875553	0	T	96875553	G	T	96875553	3	4	88	1	0	0	0	0	1	0	0	0	10696	962	34	3	268	3	NR2F2	15	96875553	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1861903	96875553	5655839	15174	22886											
ARRDC4	91947	broad.mit.edu	37	chr15	98508838	98508838	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctcttataggtgaaggcAtcattttattacagcctgga	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:98508838A>G	ENST00000268042.6	+	2	480	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	ARRDC4_ENST00000538249.1_Missense_Mutation_p.I19V	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	106					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			AGGTGAAGGCATCATTTTATT	0.308													False	0	False	15:98508838	0	G	98508838	A	G	98508838	3	3	88	1	0	0	0	0	1	0	0	0	989	217	8	4	322	4	ARRDC4	15	98508838	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1633285	98508838	4022554	15175	22887											
ARRDC4	91947	broad.mit.edu	37	chr15	98513913	98513913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgtgagggagaagtgtgCtgtcctgtgtttgcctgtat	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:98513913C>T	ENST00000268042.6	+	7	1304	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	ARRDC4_ENST00000538249.1_Silent_p.C293C	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	380					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			GAGAAGTGTGCTGTCCTGTGT	0.418													False	0	False	15:98513913	0	T	98513913	C	T	98513913	2	4	88	1	0	0	0	0	0	0	0	1	989	805	28	2		2	ARRDC4	15	98513913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5075	98513913	4017479	15176	22888											
FAM169B	283777	broad.mit.edu	37	chr15	99023964	99023964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcttccaaaaataatggCgtttagaatgaaaagcacaa	6	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99023964C>T	ENST00000558256.1	-	4	298	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	FAM169B_ENST00000332908.4_Missense_Mutation_p.A17T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	17										large_intestine(3)|lung(3)|urinary_tract(1)	7						AAAATAATGGCGTTTAGAATG	0.383													False	0	False	15:99023964	0	T	99023964	C	T	99023964	3	4	88	1	0	0	0	0	1	0	0	0	5524	768	27	1	545	1	FAM169B	15	99023964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	510051	99023964	3507428	15177	22889											
IGF1R	3480	broad.mit.edu	37	chr15	99456414	99456414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagccctggactcagtaCgccgtttacgtcaaggctgt	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99456414C>T	ENST00000268035.6	+	8	2342	c.1731C>T	c.(1729-1731)taC>taT	p.Y577Y	IGF1R_ENST00000558762.1_Silent_p.Y577Y	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	577	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGACTCAGTACGCCGTTTACG	0.572													False	0	False	15:99456414	0	T	99456414	C	T	99456414	2	4	88	1	0	0	0	0	0	0	0	1	7621	547	19	1		1	IGF1R	15	99456414	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	432450	99456414	3074978	15178	22890											
IGF1R	3480	broad.mit.edu	37	chr15	99465579	99465579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctttcacattgtaccgcatcGatatccacagctgcaaccac	5	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99465579G>A	ENST00000268035.6	+	11	3015	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	IGF1R_ENST00000558762.1_Missense_Mutation_p.D802N	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	802					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GTACCGCATCGATATCCACAG	0.517													False	0	False	15:99465579	0	A	99465579	G	A	99465579	3	1	88	1	0	0	0	0	1	0	0	0	7621	1058	37	1	2446	1	IGF1R	15	99465579	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9165	99465579	3065813	15179	22891											
IGF1R	3480	broad.mit.edu	37	chr15	99472828	99472828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgatcatcgctctgcccGtcgctgtcctgttgatcgtg	10	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99472828G>A	ENST00000268035.6	+	14	3435	c.2824G>A	c.(2824-2826)Gtc>Atc	p.V942I	IGF1R_ENST00000558762.1_Missense_Mutation_p.V941I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	942					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CGCTCTGCCCGTCGCTGTCCT	0.443													False	0	True	15:99472828	0	A	99472828	G	A	99472828	3	1	88	1	0	0	0	0	1	0	0	0	7621	1145	40	1	2878	1	IGF1R	15	99472828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7249	99472828	3058564	15180	22892											
IGF1R	3480	broad.mit.edu	37	chr15	99500663	99500663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccgctgccccagtcttcgAcctgctgatccttggatcct	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99500663A>G	ENST00000268035.6	+	21	4707	c.4096A>G	c.(4096-4098)Acc>Gcc	p.T1366A	IGF1R_ENST00000558762.1_Missense_Mutation_p.T1365A|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1366					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCAGTCTTCGACCTGCTGATC	0.612													False	0	False	15:99500663	0	G	99500663	A	G	99500663	3	3	88	1	0	0	0	0	1	0	0	0	7621	275	10	4	4178	4	IGF1R	15	99500663	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27835	99500663	3030729	15181	22893											
PGPEP1L	145814	broad.mit.edu	37	chr15	99511757	99511757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagttttcttcgaactgggCtctgtgcttgggctttccca	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99511757C>T	ENST00000535714.1	-	5	1184	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	PGPEP1L_ENST00000378919.6_Missense_Mutation_p.A181T|RP11-654A16.3_ENST00000559468.1_RNA	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	181					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						TCGAACTGGGCTCTGTGCTTG	0.537													False	0	True	15:99511757	0	T	99511757	C	T	99511757	3	4	88	1	0	0	0	0	1	0	0	0	11873	797	28	2	53	2	PGPEP1L	15	99511757	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11094	99511757	3019635	15182	22894											
SYNM	23336	broad.mit.edu	37	chr15	99666928	99666928	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaattatttttacaggGccttattggaaggagaaagt	10	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99666928G>A	ENST00000336292.6	+	4	1054	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	SYNM_ENST00000328642.7_Splice_Site_p.A312T|SYNM_ENST00000560674.1_Splice_Site_p.A27T|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	313	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TTTTTACAGGGCCTTATTGGA	0.388													False	0	True	15:99666928	0	A	99666928	G	A	99666928	5	1	88	1	0	0	0	0	0	0	1	0	15537	1217	42	2	946	2	SYNM	15	99666928	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155171	99666928	2864464	15183	22895											
SYNM	23336	broad.mit.edu	37	chr15	99670348	99670348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagaggtgtccccgaaaGgtttgcagacgcctgtgaag	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99670348G>A	ENST00000336292.6	+	5	1900	c.1780G>A	c.(1780-1782)Ggt>Agt	p.G594S	SYNM_ENST00000328642.7_Missense_Mutation_p.G594S|SYNM_ENST00000560674.1_Missense_Mutation_p.G309S|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	595	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTCCCCGAAAGGTTTGCAGAC	0.557													False	0	True	15:99670348	0	A	99670348	G	A	99670348	3	1	88	1	0	0	0	0	1	0	0	0	15537	1000	35	2	1796	2	SYNM	15	99670348	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3420	99670348	2861044	15184	22896											
SYNM	23336	broad.mit.edu	37	chr15	99672987	99672987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtagaggcgatccgcagCcggacacaggaagcgggagc	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99672987C>T	ENST00000336292.6	+	5	4539	c.4419C>T	c.(4417-4419)agC>agT	p.S1473S	SYNM_ENST00000328642.7_Silent_p.S1161S|SYNM_ENST00000560674.1_Silent_p.S876S|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1474	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CGATCCGCAGCCGGACACAGG	0.552													False	0	False	15:99672987	0	T	99672987	C	T	99672987	2	4	88	1	0	0	0	0	0	0	0	1	15537	738	26	2		2	SYNM	15	99672987	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2639	99672987	2858405	15185	22897											
TTC23	64927	broad.mit.edu	37	chr15	99740177	99740177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccagggcttgctctacacCtgctaattctctcaatatgg	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99740177C>T	ENST00000394132.2	-	9	1523	c.706G>A	c.(706-708)Ggt>Agt	p.G236S	TTC23_ENST00000558613.1_Missense_Mutation_p.G236S|TTC23_ENST00000558663.1_Missense_Mutation_p.G236S|TTC23_ENST00000394136.1_Missense_Mutation_p.G236S|TTC23_ENST00000394135.3_Missense_Mutation_p.G236S|TTC23_ENST00000394130.1_Missense_Mutation_p.G236S|TTC23_ENST00000394129.2_Missense_Mutation_p.G236S|TTC23_ENST00000262074.4_Missense_Mutation_p.G236S			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	236							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGCTCTACACCTGCTAATTCT	0.463													False	0	False	15:99740177	0	T	99740177	C	T	99740177	3	4	88	1	0	0	0	0	1	0	0	0	16774	681	24	2	661	2	TTC23	15	99740177	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67190	99740177	2791215	15186	22898											
MEF2A	0	broad.mit.edu	37	chr15	100211654	100211654	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgattttattttcaaacgaGgccctgtaagtacttttact	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100211654G>T	ENST00000338042.6	+	4	704	c.385G>T	c.(385-387)Ggc>Tgc	p.G129C	MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000557942.1_Missense_Mutation_p.G129C|MEF2A_ENST00000557785.1_Missense_Mutation_p.G129C|MEF2A_ENST00000558812.1_Missense_Mutation_p.G61C|MEF2A_ENST00000449277.2_Missense_Mutation_p.G61C|MEF2A_ENST00000453228.2_Missense_Mutation_p.G129C			Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	129					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TTTCAAACGAGGCCCTGTAAG	0.388													False	0	False	15:100211654	0	T	100211654	G	T	100211654	3	4	88	1	0	0	0	0	1	0	0	0	9522	1000	35	3	395	3	MEF2A	15	100211654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	471477	100211654	2319738	15187	22899											
LYSMD4	145748	broad.mit.edu	37	chr15	100271942	100271942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcagccatactgcagcGccagcttgttgaggctgtcc	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100271942G>A	ENST00000344791.2	-	3	447	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Missense_Mutation_p.A88V|LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000409796.1_Missense_Mutation_p.A88V	NM_001284419.1|NM_152449.2	NP_001271348.1|NP_689662.2	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	0					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			ATACTGCAGCGCCAGCTTGTT	0.667													False	0	False	15:100271942	0	A	100271942	G	A	100271942	3	1	88	1	0	0	0	0	1	0	0	0	9190	1087	38	1	734	1	LYSMD4	15	100271942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60288	100271942	2259450	15188	22900											
ADAMTS17	170691	broad.mit.edu	37	chr15	100514630	100514630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagttcggcggtggctggcGcatcttgtttgcatagaagt	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100514630G>A	ENST00000268070.4	-	22	3370	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	1089					proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1089C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTGGCTGGCGCATCTTGTTT	0.592													False	0	True	15:100514630	0	A	100514630	G	A	100514630	3	1	88	1	0	0	0	0	1	0	0	0	262	1087	38	1	26	1	ADAMTS17	15	100514630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242688	100514630	2016762	15189	22901											
ADAMTS17	170691	broad.mit.edu	37	chr15	100591811	100591811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactgcacccttcccagccGctgtgggtccagatgaacaa	9	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100591811G>A	ENST00000268070.4	-	17	2526	c.2421C>T	c.(2419-2421)agC>agT	p.S807S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	807	TSP type-1 2.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTTCCCAGCCGCTGTGGGTCC	0.527													False	0	False	15:100591811	0	A	100591811	G	A	100591811	2	1	88	1	0	0	0	0	0	0	0	1	262	1078	38	1		1	ADAMTS17	15	100591811	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77181	100591811	1939581	15190	22902											
ADAMTS17	170691	broad.mit.edu	37	chr15	100739611	100739611	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcttagcactgcacacacCtcctaagtaagcaattcctg	5	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100739611C>A	ENST00000268070.4	-	8	1198	c.1093G>T	c.(1093-1095)Ggt>Tgt	p.G365C	ADAMTS17_ENST00000559976.1_5'UTR	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	365	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTGCACACACCTCCTAAGTAA	0.522													False	0	True	15:100739611	0	A	100739611	C	A	100739611	3	1	88	1	0	0	0	0	1	0	0	0	262	681	24	3	2254	3	ADAMTS17	15	100739611	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147800	100739611	1791781	15191	22903											
ADAMTS17	170691	broad.mit.edu	37	chr15	100821525	100821525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaccagggtctccaccGtgtgctcgctggtgagccgg	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100821525G>A	ENST00000268070.4	-	4	803	c.698C>T	c.(697-699)aCg>aTg	p.T233M		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	233	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTCTCCACCGTGTGCTCGCT	0.627													False	0	False	15:100821525	0	A	100821525	G	A	100821525	3	1	88	1	0	0	0	0	1	0	0	0	262	1145	40	1	2665	1	ADAMTS17	15	100821525	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81914	100821525	1709867	15192	22904											
ALDH1A3	220	broad.mit.edu	37	chr15	101448629	101448629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggatcaactgctacaacGccctctatgcacaggctcca	7	15	2	0	rs147752643		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101448629G>A	ENST00000329841.5	+	12	1940	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.A363T	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	470					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CTGCTACAACGCCCTCTATGC	0.512													False	0	True	15:101448629	0	A	101448629	G	A	101448629	3	1	88	1	0	0	0	0	1	0	0	0	492	1087	38	1	1454	1	ALDH1A3	15	101448629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	627104	101448629	1082763	15193	22905											
LRRK1	79705	broad.mit.edu	37	chr15	101523781	101523781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggggatctggagatggtcCgctacctactcagcaagaga	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101523781C>T	ENST00000284395.5	+	4	629	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	LRRK1_ENST00000532029.2_Missense_Mutation_p.R104C|LRRK1_ENST00000388948.3_Missense_Mutation_p.R104C			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	104					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGAGATGGTCCGCTACCTACT	0.587													False	0	False	15:101523781	0	T	101523781	C	T	101523781	3	4	88	1	0	0	0	0	1	0	0	0	9094	652	23	1	320	1	LRRK1	15	101523781	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75152	101523781	1007611	15194	22906											
LRRK1	79705	broad.mit.edu	37	chr15	101552339	101552339	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaagttcccctgggacttTtccagcttgatgtaagccta	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101552339T>C	ENST00000284395.5	+	11	1799	c.1399T>C	c.(1399-1401)Ttc>Ctc	p.F467L	LRRK1_ENST00000388948.3_Missense_Mutation_p.F470L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	470					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTGGGACTTTTCCAGCTTGA	0.433													False	0	True	15:101552339	0	C	101552339	T	C	101552339	3	2	88	1	0	0	0	0	1	0	0	0	9094	1841	64	4	1442	4	LRRK1	15	101552339	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28558	101552339	979053	15195	22907											
LRRK1	79705	broad.mit.edu	37	chr15	101602803	101602803	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatctacatctacaccCtcaagggcatgtgcccctta	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101602803C>A	ENST00000284395.5	+	32	5213	c.4813C>A	c.(4813-4815)Ctc>Atc	p.L1605I	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.L1608I			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1608					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATCTACACCCTCAAGGGCAT	0.532													False	0	True	15:101602803	0	A	101602803	C	A	101602803	3	1	88	1	0	0	0	0	1	0	0	0	9094	681	24	3	4940	3	LRRK1	15	101602803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50464	101602803	928589	15196	22908											
LRRK1	79705	broad.mit.edu	37	chr15	101605829	101605829	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgcaggcggctggagccCtacatggccccctccatggt	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101605829C>A	ENST00000284395.5	+	33	5578	c.5178C>A	c.(5176-5178)ccC>ccA	p.P1726P	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000388948.3_Silent_p.P1729P			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1729					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCTGGAGCCCTACATGGCCC	0.622													False	0	True	15:101605829	0	A	101605829	C	A	101605829	2	1	88	1	0	0	0	0	0	0	0	1	9094	668	24	3		3	LRRK1	15	101605829	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3026	101605829	925563	15197	22909											
SNRPA1	6627	broad.mit.edu	37	chr15	101821938	101821938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcactgctcaggacccGtttgtgactgtgtcttcttc	9	13	4	1	rs151201574	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101821938G>A	ENST00000254193.6	-	9	831	c.759C>T	c.(757-759)aaC>aaT	p.N253N		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	253						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCAGGACCCGTTTGTGACTG	0.413													False	0	True	15:101821938	0	A	101821938	G	A	101821938	2	1	88	1	0	0	0	0	0	0	0	1	14940	1136	40	1		1	SNRPA1	15	101821938	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	216109	101821938	709454	15198	22910											
PCSK6	5046	broad.mit.edu	37	chr15	101905197	101905197	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacagaatcgagagtgtggaAacgaacctctcttctgtggt	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101905197A>G	ENST00000331826.7	-	12	1412	c.1413T>C	c.(1411-1413)gtT>gtC	p.V471V	PCSK6_ENST00000358417.3_Intron|PCSK6_ENST00000344273.2_Intron|PCSK6_ENST00000561177.1_Intron|PCSK6_ENST00000398181.2_Intron|PCSK6_ENST00000348070.1_Intron			P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	0					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			agagtgtggaaacgaacctct	0.393													False	0	True	15:101905197	0	G	101905197	A	G	101905197	2	3	88	1	0	0	0	0	0	0	0	1	11672	1	1	4		4	PCSK6	15	101905197	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83259	101905197	626195	15199	22911											
PCSK6	5046	broad.mit.edu	37	chr15	101933572	101933572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgcacgagcagtagtcccCctctctcccgccattcccag	7	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101933572C>T	ENST00000348070.1	-	9	1050	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	PCSK6_ENST00000358417.3_Missense_Mutation_p.G351R|PCSK6_ENST00000344273.2_Missense_Mutation_p.G351R|PCSK6_ENST00000331826.7_Missense_Mutation_p.G186R|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.G351R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	352	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGTAGTCCCCCTCTCTCCCG	0.612													False	0	True	15:101933572	0	T	101933572	C	T	101933572	3	4	88	1	0	0	0	0	1	0	0	0	11672	623	22	2	2394	2	PCSK6	15	101933572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28375	101933572	597820	15200	22912											
TARSL2	123283	broad.mit.edu	37	chr15	102211926	102211926	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattttccacggttctccaAagtccatcaagctgttctgc	6	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102211926A>G	ENST00000335968.3	-	14	2030	c.1814T>C	c.(1813-1815)tTt>tCt	p.F605S		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	605					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGTTCTCCAAAGTCCATCAA	0.348													False	0	True	15:102211926	0	G	102211926	A	G	102211926	3	3	88	1	0	0	0	0	1	0	0	0	15643	14	1	4	618	4	TARSL2	15	102211926	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	278354	102211926	319466	15201	22913											
TARSL2	123283	broad.mit.edu	37	chr15	102252167	102252167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatagtaaagctccatgGcctccccaagaatgtgagca	8	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102252167G>A	ENST00000335968.3	-	5	944	c.728C>T	c.(727-729)gCc>gTc	p.A243V		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	243					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGCTCCATGGCCTCCCCAAG	0.448													False	0	False	15:102252167	0	A	102252167	G	A	102252167	3	1	88	1	0	0	0	0	1	0	0	0	15643	1203	42	2	1740	2	TARSL2	15	102252167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40241	102252167	279225	15202	22914											
RHBDF1	64285	broad.mit.edu	37	chr16	108725	108725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctccacgaagaggcaggCcaggatgccgaactgggagc	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:108725C>T	ENST00000262316.6	-	18	2324	c.2182G>A	c.(2182-2184)Gcc>Acc	p.A728T		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	728					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AAGAGGCAGGCCAGGATGCCG	0.647													False	0	True	16:108725	0	T	108725	C	T	108725	3	4	88	1	0	0	0	0	1	0	0	0	13398	739	26	2	389	2	RHBDF1	16	108725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		108725	90246028	15203	22915											
RHBDF1	64285	broad.mit.edu	37	chr16	112988	112988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttcatcagcgctgcggCcgcccggaagctcatcttgg	11	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:112988C>T	ENST00000262316.6	-	5	797	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	RHBDF1_ENST00000454039.2_Missense_Mutation_p.A219T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	219					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCGCTGCGGCCGCCCGGAAG	0.701													False	0	False	16:112988	0	T	112988	C	T	112988	3	4	88	1	0	0	0	0	1	0	0	0	13398	739	26	2	1968	2	RHBDF1	16	112988	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4263	112988	90241765	15204	22916											
RHBDF1	64285	broad.mit.edu	37	chr16	113124	113124	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtggggcactcaggccTtccgcagtgtcatctgccac	13	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:113124T>C	ENST00000262316.6	-	5	661	c.519A>G	c.(517-519)gaA>gaG	p.E173E	RHBDF1_ENST00000454039.2_Silent_p.E173E	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	173					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CACTCAGGCCTTCCGCAGTGT	0.682													False	0	False	16:113124	0	C	113124	T	C	113124	2	2	88	1	0	0	0	0	0	0	0	1	13398	1606	56	4		4	RHBDF1	16	113124	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	136	113124	90241629	15205	22917											
NPRL3	8131	broad.mit.edu	37	chr16	136767	136767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtggtcaccaccagcacGctgcggaacttgtcaaacag	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:136767G>A	ENST00000399953.3	-	14	2046	c.1644C>T	c.(1642-1644)agC>agT	p.S548S	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Silent_p.S369S	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	549							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CCACCAGCACGCTGCGGAACT	0.637													False	0	False	16:136767	0	A	136767	G	A	136767	2	1	88	1	0	0	0	0	0	0	0	1	10666	1078	38	1		1	NPRL3	16	136767	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23643	136767	90217986	15206	22918											
NPRL3	8131	broad.mit.edu	37	chr16	150396	150396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttcaggctccgttcgatGgcctctggggggatcagact	14	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:150396G>A	ENST00000399953.3	-	7	1143	c.741C>T	c.(739-741)gcC>gcT	p.A247A	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Silent_p.A68A	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	247							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						TCCGTTCGATGGCCTCTGGGG	0.602													False	0	False	16:150396	0	A	150396	G	A	150396	2	1	88	1	0	0	0	0	0	0	0	1	10666	1335	47	2		2	NPRL3	16	150396	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13629	150396	90204357	15207	22919											
NPRL3	8131	broad.mit.edu	37	chr16	169169	169169	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgggtgcccaacaaatcGcacattatcaatcttcagtt	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:169169G>A	ENST00000399953.3	-	3	676	c.274C>T	c.(274-276)Cga>Tga	p.R92*	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	92							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CCAACAAATCGCACATTATCA	0.478													False	0	False	16:169169	0	A	169169	G	A	169169	4	1	88	1	0	0	0	0	0	1	0	0	10666	1095	38	1	1478	1	NPRL3	16	169169	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18773	169169	90185584	15208	22920											
HBQ1	3049	broad.mit.edu	37	chr16	231010	231010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgctggtaaccctcgCccggcactaccccggagact	10	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:231010C>T	ENST00000199708.2	+	3	366	c.332C>T	c.(331-333)gCc>gTc	p.A111V		NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	111						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GTAACCCTCGCCCGGCACTAC	0.706													False	0	True	16:231010	0	T	231010	C	T	231010	3	4	88	1	0	0	0	0	1	0	0	0	7033	739	26	2	342	2	HBQ1	16	231010	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61841	231010	90123743	15209	22921											
ITFG3	83986	broad.mit.edu	37	chr16	304439	304439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacaaggacttagaggcCgaaatccaccccttgaaaaa	8	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:304439C>T	ENST00000399932.3	+	3	478	c.27C>T	c.(25-27)gcC>gcT	p.A9A	ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	9						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				ACTTAGAGGCCGAAATCCACC	0.493											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	16:304439	0	T	304439	C	T	304439	2	4	88	1	0	0	0	0	0	0	0	1	7921	639	23	1		1	ITFG3	16	304439	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73429	304439	90050314	15210	22922											
ITFG3	83986	broad.mit.edu	37	chr16	309975	309975	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctccctacaggcttttcCtctccctgcacctttgcagc	5	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:309975C>A	ENST00000399932.3	+	5	844	c.393C>A	c.(391-393)tcC>tcA	p.S131S	ITFG3_ENST00000442458.2_Silent_p.S131S|ITFG3_ENST00000301679.2_Silent_p.S131S|ITFG3_ENST00000301678.3_Silent_p.S131S|ITFG3_ENST00000450082.2_Silent_p.S131S|ITFG3_ENST00000600536.1_Silent_p.S131S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	131						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CAGGCTTTTCCTCTCCCTGCA	0.637													False	0	False	16:309975	0	A	309975	C	A	309975	2	1	88	1	0	0	0	0	0	0	0	1	7921	668	24	3		3	ITFG3	16	309975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5536	309975	90044778	15211	22923											
ARHGDIG	398	broad.mit.edu	37	chr16	331765	331765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcctggctgacaaggaGggtgggccgccggcagtgga	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:331765G>A	ENST00000219409.3	+	2	168	c.93G>A	c.(91-93)gaG>gaA	p.E31E		NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	31					negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTGACAAGGAGGGTGGGCCGC	0.701													False	0	True	16:331765	0	A	331765	G	A	331765	2	1	88	1	0	0	0	0	0	0	0	1	894	991	35	2		2	ARHGDIG	16	331765	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21790	331765	90022988	15212	22924											
PDIA2	64714	broad.mit.edu	37	chr16	335387	335387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagacgctggctgcgcacCgggagctcctagcgggcttt	14	14	0	1	rs139827174	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:335387C>T	ENST00000219406.6	+	6	889	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	PDIA2_ENST00000404312.1_Missense_Mutation_p.R288W|PDIA2_ENST00000462950.1_3'UTR	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	291					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGCTGCGCACCGGGAGCTCCT	0.667													False	0	True	16:335387	0	T	335387	C	T	335387	3	4	88	1	0	0	0	0	1	0	0	0	11736	643	23	1	893	1	PDIA2	16	335387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3622	335387	90019366	15213	22925											
AXIN1	8312	broad.mit.edu	37	chr16	347979	347979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcccgtgccccgaggcGgcaccccccagtgccactgg	12	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:347979G>A	ENST00000262320.3	-	6	1898	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	AXIN1_ENST00000354866.3_Silent_p.A509A|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	509	Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCCCCGAGGCGGCACCCCCCA	0.706													False	0	False	16:347979	0	A	347979	G	A	347979	2	1	88	1	0	0	0	0	0	0	0	1	1240	1103	39	1		1	AXIN1	16	347979	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12592	347979	90006774	15214	22926											
AXIN1	8312	broad.mit.edu	37	chr16	360044	360044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccctgcggtgctgcttacGgatcctgtatggggggatcc	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:360044G>A	ENST00000262320.3	-	4	1416	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	AXIN1_ENST00000354866.3_Missense_Mutation_p.R349C|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	349	Interaction with GSK3B (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.R349C(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGCTGCTTACGGATCCTGTAT	0.617													False	0	False	16:360044	0	A	360044	G	A	360044	3	1	88	1	0	0	0	0	1	0	0	0	1240	1116	39	1	1575	1	AXIN1	16	360044	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12065	360044	89994709	15215	22927											
MRPL28	10573	broad.mit.edu	37	chr16	419132	419132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtccgcatggtcacaGtcactgtgaacttcttgtcc	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:419132G>A	ENST00000199706.8	-	3	412	c.377C>T	c.(376-378)aCt>aTt	p.T126I	MRPL28_ENST00000389675.2_Missense_Mutation_p.T126I|MRPL28_ENST00000429738.1_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	126					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CATGGTCACAGTCACTGTGAA	0.547													False	0	False	16:419132	0	A	419132	G	A	419132	3	1	88	1	0	0	0	0	1	0	0	0	9859	1029	36	2	409	2	MRPL28	16	419132	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59088	419132	89935621	15216	22928											
TMEM8A	58986	broad.mit.edu	37	chr16	426714	426714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgctaggcagggtgaccGggcccacggtgagacgcacg	17	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:426714G>A	ENST00000431232.2	-	5	894	c.734C>T	c.(733-735)cCg>cTg	p.P245L	TMEM8A_ENST00000250930.3_Missense_Mutation_p.P52L	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	245					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CAGGGTGACCGGGCCCACGGT	0.692													False	0	True	16:426714	0	A	426714	G	A	426714	3	1	88	1	0	0	0	0	1	0	0	0	16296	1116	39	1	1617	1	TMEM8A	16	426714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7582	426714	89928039	15217	22929											
NME4	4833	broad.mit.edu	37	chr16	449418	449418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagcactaccaggacctgCggaggaagcccttctaccct	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:449418C>T	ENST00000397722.1	+	3	529	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	NME4_ENST00000382940.4_Missense_Mutation_p.R97W|NME4_ENST00000219479.2_Missense_Mutation_p.R89W|NME4_ENST00000450036.1_Missense_Mutation_p.R19W			O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4	89					CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				CCAGGACCTGCGGAGGAAGCC	0.632													False	0	False	16:449418	0	T	449418	C	T	449418	3	4	88	1	0	0	0	0	1	0	0	0	10561	759	27	1	275	1	NME4	16	449418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22704	449418	89905335	15218	22930											
DECR2	26063	broad.mit.edu	37	chr16	461408	461408	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcactgccagcccgctgCagaggctggggaacaagacc	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:461408C>T	ENST00000219481.5	+	8	847	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Nonsense_Mutation_p.Q225*	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	237						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CAGCCCGCTGCAGAGGCTGGG	0.692													False	0	False	16:461408	0	T	461408	C	T	461408	4	4	88	1	0	0	0	0	0	1	0	0	4408	711	25	2	739	2	DECR2	16	461408	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11990	461408	89893345	15219	22931											
RAB11FIP3	9727	broad.mit.edu	37	chr16	532617	532617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacaccagcaccctggtGcaccctgagctgcaacctga	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:532617G>A	ENST00000262305.4	+	4	1384	c.996G>A	c.(994-996)gtG>gtA	p.V332V	RAB11FIP3_ENST00000457159.1_Silent_p.V332V|RAB11FIP3_ENST00000450428.1_Silent_p.V36V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	332					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCACCCTGGTGCACCCTGAGC	0.657													False	0	False	16:532617	0	A	532617	G	A	532617	2	1	88	1	0	0	0	0	0	0	0	1	12974	1306	46	2		2	RAB11FIP3	16	532617	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71209	532617	89822136	15220	22932											
PIGQ	9091	broad.mit.edu	37	chr16	624165	624165	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggagcagagcagcgccGtggtcctggcggtcctgcac	16	14	0	1	rs148273392		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:624165G>A	ENST00000321878.5	+	2	250	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	PIGQ_ENST00000470411.2_Missense_Mutation_p.V31M|PIGQ_ENST00000409527.2_Missense_Mutation_p.V31M|PIGQ_ENST00000026218.5_Missense_Mutation_p.V31M	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	31					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GAGCAGCGCCGTGGTCCTGGC	0.701													False	0	False	16:624165	0	A	624165	G	A	624165	3	1	88	1	0	0	0	0	1	0	0	0	11965	1145	40	1	93	1	PIGQ	16	624165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91548	624165	89730588	15221	22933											
PIGQ	9091	broad.mit.edu	37	chr16	628425	628425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagtggctgatgggtgCtcccgccgggctcaagatga	16	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:628425C>T	ENST00000321878.5	+	5	1148	c.989C>T	c.(988-990)gCt>gTt	p.A330V	PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000409527.2_Missense_Mutation_p.A330V|PIGQ_ENST00000026218.5_Missense_Mutation_p.A330V	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	330	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTGATGGGTGCTCCCGCCGGG	0.677													False	0	False	16:628425	0	T	628425	C	T	628425	3	4	88	1	0	0	0	0	1	0	0	0	11965	797	28	2	1003	2	PIGQ	16	628425	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4260	628425	89726328	15222	22934											
PIGQ	9091	broad.mit.edu	37	chr16	633231	633231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtgggggtggccagccaGgctggccgcactccatcact	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:633231G>T	ENST00000026218.5	+	10	1968	c.1880G>T	c.(1879-1881)aGg>aTg	p.R627M	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	627					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGCCAGCCAGGCTGGCCGCA	0.642													False	0	True	16:633231	0	T	633231	G	T	633231	3	4	88	1	0	0	0	0	1	0	0	0	11965	1000	35	3	1980	3	PIGQ	16	633231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4806	633231	89721522	15223	22935											
PIGQ	9091	broad.mit.edu	37	chr16	633554	633554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcagtcgctgacccccGtccccagcgggcccgggccc	13	19	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:633554G>A	ENST00000026218.5	+	10	2291	c.2203G>A	c.(2203-2205)Gtc>Atc	p.V735I	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	735					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCTGACCCCCGTCCCCAGCGG	0.627													False	0	True	16:633554	0	A	633554	G	A	633554	3	1	88	1	0	0	0	0	1	0	0	0	11965	1145	40	1	2303	1	PIGQ	16	633554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	323	633554	89721199	15224	22936											
RAB40C	57799	broad.mit.edu	37	chr16	676048	676048	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgtgcaacttcaacgtcatCgagtccttcacggagctatc	8	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:676048C>T	ENST00000535977.1	+	6	714	c.492C>T	c.(490-492)atC>atT	p.I164I	RAB40C_ENST00000538492.1_Silent_p.I164I|RAB40C_ENST00000539661.1_Silent_p.I164I|RAB40C_ENST00000248139.3_Silent_p.I164I	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	164					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TCAACGTCATCGAGTCCTTCA	0.642													False	0	False	16:676048	0	T	676048	C	T	676048	2	4	88	1	0	0	0	0	0	0	0	1	13021	874	31	1		1	RAB40C	16	676048	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42494	676048	89678705	15225	22937											
RAB40C	57799	broad.mit.edu	37	chr16	677435	677435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcccgtcaccatcaagaGccacctcaagtccttctcga	6	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:677435G>A	ENST00000535977.1	+	7	881	c.659G>A	c.(658-660)aGc>aAc	p.S220N	RAB40C_ENST00000538492.1_Missense_Mutation_p.S220N|RAB40C_ENST00000539661.1_Missense_Mutation_p.S220N|RAB40C_ENST00000248139.3_Missense_Mutation_p.S220N	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	220	SOCS box.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				ACCATCAAGAGCCACCTCAAG	0.657													False	0	False	16:677435	0	A	677435	G	A	677435	3	1	88	1	0	0	0	0	1	0	0	0	13021	971	34	2	681	2	RAB40C	16	677435	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1387	677435	89677318	15226	22938											
FAM195A	84331	broad.mit.edu	37	chr16	697444	697444	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggcttgtgttcaatcgTgtgaatggccggcgggcccc	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:697444T>G	ENST00000307650.4	+	3	389	c.210T>G	c.(208-210)cgT>cgG	p.R70R		NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN	family with sequence similarity 195, member A	70										haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						TGTTCAATCGTGTGAATGGCC	0.632													False	0	False	16:697444	0	G	697444	T	G	697444	2	3	88	1	0	0	0	0	0	0	0	1	5563	1683	59	4		4	FAM195A	16	697444	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20009	697444	89657309	15227	22939											
WDR90	197335	broad.mit.edu	37	chr16	701862	701862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcacccaggcccttcccGgaggtcagcctgtcccaaga	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:701862G>A	ENST00000549091.1	+	9	968	c.876G>A	c.(874-876)ccG>ccA	p.P292P	WDR90_ENST00000293879.4_Silent_p.P292P	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	292										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCCTTCCCGGAGGTCAGCC	0.682													False	0	True	16:701862	0	A	701862	G	A	701862	2	1	88	1	0	0	0	0	0	0	0	1	17421	1103	39	1		1	WDR90	16	701862	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4418	701862	89652891	15228	22940											
WDR90	197335	broad.mit.edu	37	chr16	702503	702503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtcctgaggctcaagggcGtcatcggctttgggggccac	15	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:702503G>A	ENST00000549091.1	+	10	1182	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	WDR90_ENST00000293879.4_Missense_Mutation_p.V364I	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	364										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCTCAAGGGCGTCATCGGCTT	0.637													False	0	False	16:702503	0	A	702503	G	A	702503	3	1	88	1	0	0	0	0	1	0	0	0	17421	1145	40	1	1128	1	WDR90	16	702503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	641	702503	89652250	15229	22941											
WDR90	197335	broad.mit.edu	37	chr16	705640	705640	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatggtcgtgcggcatgccCgccgcctgctccccacacgg	13	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:705640C>A	ENST00000549091.1	+	16	1878	c.1786C>A	c.(1786-1788)Cgc>Agc	p.R596S	WDR90_ENST00000293879.4_Missense_Mutation_p.R596S|LA16c-349E10.1_ENST00000573609.1_RNA	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	596										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCGGCATGCCCGCCGCCTGCT	0.682													False	0	True	16:705640	0	A	705640	C	A	705640	3	1	88	1	0	0	0	0	1	0	0	0	17421	652	23	3	1848	3	WDR90	16	705640	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3137	705640	89649113	15230	22942											
WDR90	197335	broad.mit.edu	37	chr16	708580	708580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgctcagtgaggacgcccGcttcctgctgattgccgccg	13	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:708580G>A	ENST00000549091.1	+	23	2914	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	WDR90_ENST00000293879.4_Missense_Mutation_p.R941H	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	941										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GAGGACGCCCGCTTCCTGCTG	0.662													False	0	True	16:708580	0	A	708580	G	A	708580	3	1	88	1	0	0	0	0	1	0	0	0	17421	1087	38	1	2912	1	WDR90	16	708580	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2940	708580	89646173	15231	22943											
WDR90	197335	broad.mit.edu	37	chr16	708595	708595	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgcttcctgctgattgCcgccggccggaccatcaagg	12	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:708595C>A	ENST00000549091.1	+	23	2929	c.2837C>A	c.(2836-2838)gCc>gAc	p.A946D	WDR90_ENST00000293879.4_Missense_Mutation_p.A946D	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	946										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGCTGATTGCCGCCGGCCGG	0.672													False	0	False	16:708595	0	A	708595	C	A	708595	3	1	88	1	0	0	0	0	1	0	0	0	17421	739	26	3	2927	3	WDR90	16	708595	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	708595	89646158	15232	22944											
RHOT2	89941	broad.mit.edu	37	chr16	718508	718508	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtccctccccgcgcggaggaGatcaccatccccgcggacgt	12	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:718508G>T	ENST00000315082.4	+	3	231	c.117G>T	c.(115-117)gaG>gaT	p.E39D	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	39	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GCGCGGAGGAGATCACCATCC	0.761													False	0	False	16:718508	0	T	718508	G	T	718508	3	4	88	1	0	0	0	0	1	0	0	0	13423	933	33	3	127	3	RHOT2	16	718508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9913	718508	89636245	15233	22945											
RHOT2	89941	broad.mit.edu	37	chr16	720170	720170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatggggggaccacgcagggGcccaggtaatgaggggatgt	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:720170G>A	ENST00000315082.4	+	6	438	c.324G>A	c.(322-324)ggG>ggA	p.G108G	RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	108	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCACGCAGGGGCCCAGGTAAT	0.632													False	0	True	16:720170	0	A	720170	G	A	720170	2	1	88	1	0	0	0	0	0	0	0	1	13423	1190	42	2		2	RHOT2	16	720170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1662	720170	89634583	15234	22946											
RHOT2	89941	broad.mit.edu	37	chr16	721082	721082	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctttgtctcggtgcaGgtttcctcttcctgaacacg	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721082G>T	ENST00000315082.4	+	11	862		c.e11-1			NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2						apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TCTCGGTGCAGGTTTCCTCTT	0.677													False	0	False	16:721082	0	T	721082	G	T	721082	5	4	88	1	0	0	0	0	0	0	1	0	13423	1014	35	3	790	3	RHOT2	16	721082	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	912	721082	89633671	15235	22947											
RHOT2	89941	broad.mit.edu	37	chr16	721923	721923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgtgttcccagcagcgCcctggggccccgagctccca	12	17	1	0	rs113238749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721923C>T	ENST00000315082.4	+	13	1132	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	340					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCCAGCAGCGCCCTGGGGCCC	0.677													False	0	True	16:721923	0	T	721923	C	T	721923	3	4	88	1	0	0	0	0	1	0	0	0	13423	739	26	2	1068	2	RHOT2	16	721923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	841	721923	89632830	15236	22948											
RHOT2	89941	broad.mit.edu	37	chr16	721946	721946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggccccgagctcccacgCacagtccgcacagaggccgg	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721946C>T	ENST00000315082.4	+	13	1155	c.1041C>T	c.(1039-1041)cgC>cgT	p.R347R		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	347					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				AGCTCCCACGCACAGTCCGCA	0.701													False	0	False	16:721946	0	T	721946	C	T	721946	2	4	88	1	0	0	0	0	0	0	0	1	13423	697	25	2		2	RHOT2	16	721946	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23	721946	89632807	15237	22949											
WDR24	84219	broad.mit.edu	37	chr16	734755	734755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagtactcgcagaggtgGccgcagcctgcgggacagtg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:734755G>A	ENST00000293883.4	-	9	3111	c.2352C>T	c.(2350-2352)ggC>ggT	p.G784G	WDR24_ENST00000248142.6_Silent_p.G914G	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	914										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CGCAGAGGTGGCCGCAGCCTG	0.697													False	0	False	16:734755	0	A	734755	G	A	734755	2	1	88	1	0	0	0	0	0	0	0	1	17365	1190	42	2		2	WDR24	16	734755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12809	734755	89619998	15238	22950											
WDR24	84219	broad.mit.edu	37	chr16	737061	737061	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagaggccctcagggtTggcgcgctcgacgggctggc	18	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:737061T>A	ENST00000293883.4	-	3	1774	c.1015A>T	c.(1015-1017)Aac>Tac	p.N339Y	WDR24_ENST00000248142.6_Missense_Mutation_p.N469Y	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	469										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CCCTCAGGGTTGGCGCGCTCG	0.706													False	0	False	16:737061	0	A	737061	T	A	737061	3	1	88	1	0	0	0	0	1	0	0	0	17365	1812	63	5	1385	5	WDR24	16	737061	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2306	737061	89617692	15239	22951											
WDR24	84219	broad.mit.edu	37	chr16	737187	737187	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattcccgtggtgacgtctcGgtgttcctcaaacatggcag	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:737187G>A	ENST00000293883.4	-	3	1648	c.889C>T	c.(889-891)Cga>Tga	p.R297*	WDR24_ENST00000248142.6_Nonsense_Mutation_p.R427*	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	427										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GTGACGTCTCGGTGTTCCTCA	0.637													False	0	False	16:737187	0	A	737187	G	A	737187	4	1	88	1	0	0	0	0	0	1	0	0	17365	1124	39	1	1511	1	WDR24	16	737187	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	737187	89617566	15240	22952											
WDR24	84219	broad.mit.edu	37	chr16	739280	739280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagactttgtttaccgtgcGcttgtgttctgtgaacagct	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:739280G>A	ENST00000293883.4	-	1	1120	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	WDR24_ENST00000248142.6_Missense_Mutation_p.R183C	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	183										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TTTACCGTGCGCTTGTGTTCT	0.597													False	0	False	16:739280	0	A	739280	G	A	739280	3	1	88	1	0	0	0	0	1	0	0	0	17365	1087	38	1	2047	1	WDR24	16	739280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2093	739280	89615473	15241	22953											
CCDC78	124093	broad.mit.edu	37	chr16	775563	775563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccagctccagtacccgGctctccagccgaaggatctg	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:775563G>A	ENST00000293889.6	-	4	390	c.285C>T	c.(283-285)agC>agT	p.S95S		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	95										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CCAGTACCCGGCTCTCCAGCC	0.667													False	0	False	16:775563	0	A	775563	G	A	775563	2	1	88	1	0	0	0	0	0	0	0	1	2873	1194	42	2		2	CCDC78	16	775563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36283	775563	89579190	15242	22954											
NARFL	64428	broad.mit.edu	37	chr16	784812	784812	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcgccgcacaaactctcGctggctctccaggaggctga	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:784812G>A	ENST00000540986.1	-	4	1628	c.193C>T	c.(193-195)Cga>Tga	p.R65*	NARFL_ENST00000301694.5_Silent_p.S122S|NARFL_ENST00000568545.1_Nonsense_Mutation_p.R65*|NARFL_ENST00000251588.2_Nonsense_Mutation_p.R167*|HAGHL_ENST00000569604.1_3'UTR			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	167					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				ACAAACTCTCGCTGGCTCTCC	0.647													False	0	False	16:784812	0	A	784812	G	A	784812	4	1	88	1	0	0	0	0	0	1	0	0	10235	1095	38	1	959	1	NARFL	16	784812	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9249	784812	89569941	15243	22955											
MSLN	10232	broad.mit.edu	37	chr16	814919	814919	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcacagcccagatgcgttCtcggggccccaggcctgcac	11	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:814919C>T	ENST00000566549.1	+	7	810	c.393C>T	c.(391-393)ttC>ttT	p.F131F	MSLN_ENST00000382862.3_Silent_p.F131F|MSLN_ENST00000545450.2_Silent_p.F131F|MSLN_ENST00000563941.1_Silent_p.F131F			Q13421	MSLN_HUMAN	mesothelin	131					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CAGATGCGTTCTCGGGGCCCC	0.687													False	0	False	16:814919	0	T	814919	C	T	814919	2	4	88	1	0	0	0	0	0	0	0	1	9948	912	32	2		2	MSLN	16	814919	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30107	814919	89539834	15244	22956											
MSLNL	401827	broad.mit.edu	37	chr16	819456	819456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgtcagcccaagtgggCgtccagctgaatctaacacc	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:819456C>T	ENST00000293892.3	-	16	3133	c.3134G>A	c.(3133-3135)cGc>cAc	p.R1045H	MSLNL_ENST00000442466.1_Missense_Mutation_p.R694H			Q96KJ4	MSLNL_HUMAN	mesothelin-like	694					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCCAAGTGGGCGTCCAGCTGA	0.632													False	0	True	16:819456	0	T	819456	C	T	819456	3	4	88	1	0	0	0	0	1	0	0	0	9949	768	27	1	31	1	MSLNL	16	819456	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4537	819456	89535297	15245	22957											
MSLNL	401827	broad.mit.edu	37	chr16	820164	820164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggctggcgtccaggcCgagctggcccagggtggagc	21	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:820164C>T	ENST00000293892.3	-	15	2820	c.2821G>A	c.(2821-2823)Ggc>Agc	p.G941S	MSLNL_ENST00000442466.1_Missense_Mutation_p.G590S			Q96KJ4	MSLNL_HUMAN	mesothelin-like	590					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCGTCCAGGCCGAGCTGGCCC	0.721													False	0	False	16:820164	0	T	820164	C	T	820164	3	4	88	1	0	0	0	0	1	0	0	0	9949	652	23	1	348	1	MSLNL	16	820164	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	708	820164	89534589	15246	22958											
RPUSD1	113000	broad.mit.edu	37	chr16	836178	836178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagtgtgtgggggctccaGcaggcatccagggagggcag	19	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:836178G>A	ENST00000561734.1	-	5	954	c.711C>T	c.(709-711)tgC>tgT	p.C237C	RPUSD1_ENST00000007264.2_Silent_p.C237C|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Silent_p.C108C			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	237					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGGGGCTCCAGCAGGCATCCA	0.667													False	0	False	16:836178	0	A	836178	G	A	836178	2	1	88	1	0	0	0	0	0	0	0	1	13745	963	34	2		2	RPUSD1	16	836178	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16014	836178	89518575	15247	22959											
RPUSD1	113000	broad.mit.edu	37	chr16	836310	836310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggcccgagacttctccGtaggtcaggtcgcccaccac	10	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:836310G>A	ENST00000561734.1	-	5	822	c.579C>T	c.(577-579)taC>taT	p.Y193Y	RPUSD1_ENST00000007264.2_Silent_p.Y193Y|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Silent_p.Y64Y			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	193					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				AGACTTCTCCGTAGGTCAGGT	0.677													False	0	False	16:836310	0	A	836310	G	A	836310	2	1	88	1	0	0	0	0	0	0	0	1	13745	1140	40	1		1	RPUSD1	16	836310	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132	836310	89518443	15248	22960											
CHTF18	63922	broad.mit.edu	37	chr16	839554	839554	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtctctctccagagtctcaGaagctgctgccgacgtgggt	13	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:839554G>T	ENST00000317063.6	+	5	1036	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	CHTF18_ENST00000491530.1_3'UTR|CHTF18_ENST00000455171.2_Nonsense_Mutation_p.E177*|CHTF18_ENST00000262315.9_Nonsense_Mutation_p.E149*			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	149					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CAGAGTCTCAGAAGCTGCTGC	0.627													False	0	False	16:839554	0	T	839554	G	T	839554	4	4	88	1	0	0	0	0	0	1	0	0	3437	943	33	3	459	3	CHTF18	16	839554	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3244	839554	89515199	15249	22961											
CHTF18	63922	broad.mit.edu	37	chr16	841944	841944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgtggtggagatgaacGccaggtgagtgatgtgaggt	17	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:841944G>A	ENST00000317063.6	+	10	1783	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	CHTF18_ENST00000455171.2_Missense_Mutation_p.A428T|CHTF18_ENST00000262315.9_Missense_Mutation_p.A400T			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	400					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGAGATGAACGCCAGGTGAGT	0.627													False	0	False	16:841944	0	A	841944	G	A	841944	3	1	88	1	0	0	0	0	1	0	0	0	3437	1087	38	1	1232	1	CHTF18	16	841944	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2390	841944	89512809	15250	22962											
LMF1	64788	broad.mit.edu	37	chr16	921238	921238	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttcaggctgcctggcccaGaggggaacaagaatcccagg	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:921238G>T	ENST00000262301.11	-	7	1019	c.1001C>A	c.(1000-1002)tCt>tAt	p.S334Y	LMF1_ENST00000399843.2_Missense_Mutation_p.S334Y|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000568897.1_Missense_Mutation_p.S117Y|LMF1_ENST00000543238.1_Missense_Mutation_p.S97Y	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	334						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GCCTGGCCCAGAGGGGAACAA	0.642													False	0	False	16:921238	0	T	921238	G	T	921238	3	4	88	1	0	0	0	0	1	0	0	0	8898	942	33	3	722	3	LMF1	16	921238	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79294	921238	89433515	15251	22963											
SOX8	30812	broad.mit.edu	37	chr16	1034862	1034862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggagctcagcagcgagGtcatgggcaccatggacgcc	14	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1034862G>A	ENST00000293894.3	+	3	932	c.817G>A	c.(817-819)Gtc>Atc	p.V273I		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	273					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CAGCAGCGAGGTCATGGGCAC	0.697													False	0	False	16:1034862	0	A	1034862	G	A	1034862	3	1	88	1	0	0	0	0	1	0	0	0	15037	1261	44	2	827	2	SOX8	16	1034862	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113624	1034862	89319891	15252	22964											
SOX8	30812	broad.mit.edu	37	chr16	1034993	1034993	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccggggcgtcccccgtgtgGgcccacaagagtgccccgtc	15	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1034993G>T	ENST00000293894.3	+	3	1063	c.948G>T	c.(946-948)tgG>tgT	p.W316C		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	316					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCCCCGTGTGGGCCCACAAGA	0.756													False	0	True	16:1034993	0	T	1034993	G	T	1034993	3	4	88	1	0	0	0	0	1	0	0	0	15037	1241	43	3	958	3	SOX8	16	1034993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131	1034993	89319760	15253	22965											
SOX8	30812	broad.mit.edu	37	chr16	1035032	1035032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcctccgcgtcgcccacCgagacgggtcccccacggcc	12	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1035032C>T	ENST00000293894.3	+	3	1102	c.987C>T	c.(985-987)acC>acT	p.T329T		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	329					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CGTCGCCCACCGAGACGGGTC	0.751													False	0	False	16:1035032	0	T	1035032	C	T	1035032	2	4	88	1	0	0	0	0	0	0	0	1	15037	639	23	1		1	SOX8	16	1035032	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39	1035032	89319721	15254	22966											
SSTR5	0	broad.mit.edu	37	chr16	1129206	1129206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcggccccgtcctgtgccGcctggtcatgacgctggacg	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129206G>A	ENST00000293897.4	+	1	426	c.338G>A	c.(337-339)cGc>cAc	p.R113H	SSTR5_ENST00000562758.1_Missense_Mutation_p.R113H|SSTR5_ENST00000397547.2_Missense_Mutation_p.R113H	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	113					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.R113H(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GTCCTGTGCCGCCTGGTCATG	0.652													False	0	False	16:1129206	0	A	1129206	G	A	1129206	3	1	88	1	0	0	0	0	1	0	0	0	15283	1087	38	1	340	1	SSTR5	16	1129206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94174	1129206	89225547	15255	22967											
SSTR5	0	broad.mit.edu	37	chr16	1129417	1129417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcggacgtgcaggagggCggtacctgcaacgccagctg	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129417C>T	ENST00000293897.4	+	1	637	c.549C>T	c.(547-549)ggC>ggT	p.G183G	SSTR5_ENST00000562758.1_Silent_p.G183G|SSTR5_ENST00000397547.2_Silent_p.G183G	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	183					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TGCAGGAGGGCGGTACCTGCA	0.716													False	0	True	16:1129417	0	T	1129417	C	T	1129417	2	4	88	1	0	0	0	0	0	0	0	1	15283	755	27	1		1	SSTR5	16	1129417	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211	1129417	89225336	15256	22968											
SSTR5	0	broad.mit.edu	37	chr16	1129482	1129482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgtcttcatcatctacaCggccgtgctgggcttcttcg	10	15	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129482C>T	ENST00000293897.4	+	1	702	c.614C>T	c.(613-615)aCg>aTg	p.T205M	SSTR5_ENST00000562758.1_Missense_Mutation_p.T205M|SSTR5_ENST00000397547.2_Missense_Mutation_p.T205M	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	205					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	ATCATCTACACGGCCGTGCTG	0.697													False	0	False	16:1129482	0	T	1129482	C	T	1129482	3	4	88	1	0	0	0	0	1	0	0	0	15283	536	19	1	616	1	SSTR5	16	1129482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65	1129482	89225271	15257	22969											
SSTR5	0	broad.mit.edu	37	chr16	1129709	1129709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgctgccccaggagcccGcctccgccggcctctacttc	11	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129709G>A	ENST00000293897.4	+	1	929	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.A281T	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	281					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CCAGGAGCCCGCCTCCGCCGG	0.627													False	0	True	16:1129709	0	A	1129709	G	A	1129709	3	1	88	1	0	0	0	0	1	0	0	0	15283	1087	38	1	843	1	SSTR5	16	1129709	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227	1129709	89225044	15258	22970											
SSTR5	0	broad.mit.edu	37	chr16	1129926	1129926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgccacccgcgcaccgcgCcgcagccaacgggcttatgc	11	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129926C>T	ENST00000293897.4	+	1	1146	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.A353V	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	353					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GCGCACCGCGCCGCAGCCAAC	0.711													False	0	False	16:1129926	0	T	1129926	C	T	1129926	3	4	88	1	0	0	0	0	1	0	0	0	15283	739	26	2	1060	2	SSTR5	16	1129926	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217	1129926	89224827	15259	22971											
TPSD1	23430	broad.mit.edu	37	chr16	1306840	1306840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagggtgcaactgcgggaGcagcacctctactaccagga	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1306840G>A	ENST00000211076.3	+	3	445	c.297G>A	c.(295-297)gaG>gaA	p.E99E	TPSD1_ENST00000397534.2_Silent_p.E92E	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	99	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				AACTGCGGGAGCAGCACCTCT	0.667													False	0	False	16:1306840	0	A	1306840	G	A	1306840	2	1	88	1	0	0	0	0	0	0	0	1	16508	962	34	2		2	TPSD1	16	1306840	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176914	1306840	89047913	15260	22972											
BAIAP3	8938	broad.mit.edu	37	chr16	1394480	1394480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgttgcagagaggcaaccGtgagtggtacgacaggatcc	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1394480G>A	ENST00000324385.5	+	18	1876	c.1718G>A	c.(1717-1719)cGt>cAt	p.R573H	BAIAP3_ENST00000397489.1_Missense_Mutation_p.R555H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R515H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R538H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R510H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R555H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R502H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	573					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AGAGGCAACCGTGAGTGGTAC	0.612													False	0	False	16:1394480	0	A	1394480	G	A	1394480	3	1	88	1	0	0	0	0	1	0	0	0	1308	1145	40	1	1788	1	BAIAP3	16	1394480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87640	1394480	88960273	15261	22973											
BAIAP3	8938	broad.mit.edu	37	chr16	1396176	1396176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacacctcctccagctctgCgtggtcctcaacaatgtgga	8	16	2	0	rs115798223	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1396176C>T	ENST00000324385.5	+	25	2570	c.2412C>T	c.(2410-2412)tgC>tgT	p.C804C	BAIAP3_ENST00000397489.1_Silent_p.C786C|BAIAP3_ENST00000562208.1_Silent_p.C746C|BAIAP3_ENST00000426824.3_Silent_p.C769C|BAIAP3_ENST00000568887.1_Silent_p.C741C|BAIAP3_ENST00000397488.2_Silent_p.C786C|BAIAP3_ENST00000421665.2_Silent_p.C733C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	804					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCCAGCTCTGCGTGGTCCTCA	0.711													False	0	False	16:1396176	0	T	1396176	C	T	1396176	2	4	88	1	0	0	0	0	0	0	0	1	1308	776	27	1		1	BAIAP3	16	1396176	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1696	1396176	88958577	15262	22974											
BAIAP3	8938	broad.mit.edu	37	chr16	1397298	1397298	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccttctttccctgccccaGgccctggtcagttttttcca	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1397298G>T	ENST00000324385.5	+	29	3014		c.e29-1		BAIAP3_ENST00000397489.1_Splice_Site|BAIAP3_ENST00000562208.1_Splice_Site|BAIAP3_ENST00000564213.1_Splice_Site|BAIAP3_ENST00000426824.3_Splice_Site|BAIAP3_ENST00000568887.1_Splice_Site|BAIAP3_ENST00000397488.2_Splice_Site|BAIAP3_ENST00000421665.2_Splice_Site	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3						G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCCTGCCCCAGGCCCTGGTCA	0.647													False	0	False	16:1397298	0	T	1397298	G	T	1397298	5	4	88	1	0	0	0	0	0	0	1	0	1308	1014	35	3	2970	3	BAIAP3	16	1397298	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1122	1397298	88957455	15263	22975											
BAIAP3	8938	broad.mit.edu	37	chr16	1397955	1397955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatctctttccactggtccGcagccagaggacccaggtga	11	14	1	2	rs148005520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1397955G>A	ENST00000324385.5	+	32	3349	c.3191G>A	c.(3190-3192)cGc>cAc	p.R1064H	BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1046H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R993H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1064	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCACTGGTCCGCAGCCAGAGG	0.627													False	0	False	16:1397955	0	A	1397955	G	A	1397955	3	1	88	1	0	0	0	0	1	0	0	0	1308	1087	38	1	3317	1	BAIAP3	16	1397955	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	657	1397955	88956798	15264	22976											
BAIAP3	8938	broad.mit.edu	37	chr16	1398126	1398126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgaggcgtgccgccgccGcgcggcctgtgtgttgttca	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1398126G>A	ENST00000324385.5	+	33	3442	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1077H|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1037H|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1060H|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1032H|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1077H|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R1024H	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1095	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCCGCCGCCGCGCGGCCTGT	0.701													False	0	True	16:1398126	0	A	1398126	G	A	1398126	3	1	88	1	0	0	0	0	1	0	0	0	1308	1087	38	1	3414	1	BAIAP3	16	1398126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	171	1398126	88956627	15265	22977											
CLCN7	1186	broad.mit.edu	37	chr16	1502883	1502883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcacctgcaggcagggcCggtggatgtacctggaacca	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1502883C>T	ENST00000382745.4	-	15	1831	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	CLCN7_ENST00000262318.8_Missense_Mutation_p.R385Q|CLCN7_ENST00000448525.1_Missense_Mutation_p.R385Q	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	409						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CAGGCAGGGCCGGTGGATGTA	0.662													False	0	False	16:1502883	0	T	1502883	C	T	1502883	3	4	88	1	0	0	0	0	1	0	0	0	3491	652	23	1	1235	1	CLCN7	16	1502883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104757	1502883	88851870	15266	22978											
CLCN7	1186	broad.mit.edu	37	chr16	1507738	1507738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacggacaggatcacaccgGacactttgatcaccaacgtc	8	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1507738G>A	ENST00000382745.4	-	8	1300	c.695C>T	c.(694-696)tCc>tTc	p.S232F	CLCN7_ENST00000262318.8_Missense_Mutation_p.S208F|CLCN7_ENST00000448525.1_Missense_Mutation_p.S208F	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	232						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GATCACACCGGACACTTTGAT	0.607													False	0	False	16:1507738	0	A	1507738	G	A	1507738	3	1	88	1	0	0	0	0	1	0	0	0	3491	1174	41	2	1794	2	CLCN7	16	1507738	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4855	1507738	88847015	15267	22979											
CLCN7	1186	broad.mit.edu	37	chr16	1509188	1509188	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgctgccagcagccaccgGctgaaagaggggaagcacgg	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1509188G>A	ENST00000382745.4	-	7	1200	c.595C>T	c.(595-597)Ccg>Tcg	p.P199S	CLCN7_ENST00000262318.8_Splice_Site_p.P175S|CLCN7_ENST00000448525.1_Splice_Site_p.P175S	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	199						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCAGCCACCGGCTGAAAGAGG	0.657													False	0	False	16:1509188	0	A	1509188	G	A	1509188	5	1	88	1	0	0	0	0	0	0	1	0	3491	1217	42	2	1898	2	CLCN7	16	1509188	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1450	1509188	88845565	15268	22980											
PTX4	390667	broad.mit.edu	37	chr16	1537406	1537406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggctgcctgaggctggaGgctcccgcctcccttggaga	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1537406G>A	ENST00000447419.2	-	2	732	c.707C>T	c.(706-708)cCt>cTt	p.P236L	PTX4_ENST00000293922.1_Missense_Mutation_p.P231L|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	236						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGAGGCTGGAGGCTCCCGCCT	0.662													False	0	False	16:1537406	0	A	1537406	G	A	1537406	3	1	88	1	0	0	0	0	1	0	0	0	12902	1000	35	2	736	2	PTX4	16	1537406	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28218	1537406	88817347	15269	22981											
PTX4	390667	broad.mit.edu	37	chr16	1538395	1538395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaactgtccgtggaccccgCgtgggagtccgggaggccgt	18	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1538395C>T	ENST00000293922.1	-	1	73	c.74G>A	c.(73-75)cGc>cAc	p.R25H	PTX4_ENST00000447419.2_Intron|PTX4_ENST00000440447.2_Intron	NM_001013658.1	NP_001013680.1	Q96A99	PTX4_HUMAN	pentraxin 4, long	0						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GTGGACCCCGCGTGGGAGTCC	0.667													False	0	False	16:1538395	0	T	1538395	C	T	1538395	3	4	88	1	0	0	0	0	1	0	0	0	12902	768	27	1	1358	1	PTX4	16	1538395	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	989	1538395	88816358	15270	22982											
TELO2	9894	broad.mit.edu	37	chr16	1551487	1551487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcctgcgggtgacggcGcctcggaggcggggtgaggg	21	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1551487G>A	ENST00000262319.6	+	10	1627	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	450						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGGTGACGGCGCCTCGGAGGC	0.687													False	0	False	16:1551487	0	A	1551487	G	A	1551487	3	1	88	1	0	0	0	0	1	0	0	0	15839	1087	38	1	1382	1	TELO2	16	1551487	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13092	1551487	88803266	15271	22983											
IFT140	9742	broad.mit.edu	37	chr16	1573949	1573949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgagctggtcgtccagGccgttctcctgcagggaggg	15	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1573949G>A	ENST00000426508.2	-	25	3513	c.3150C>T	c.(3148-3150)ggC>ggT	p.G1050G	IFT140_ENST00000361339.5_Silent_p.G244G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1050										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGTCGTCCAGGCCGTTCTCCT	0.662													False	0	False	16:1573949	0	A	1573949	G	A	1573949	2	1	88	1	0	0	0	0	0	0	0	1	7606	1190	42	2		2	IFT140	16	1573949	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22462	1573949	88780804	15272	22984											
IFT140	9742	broad.mit.edu	37	chr16	1636214	1636214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccccggggctgcccaGgaagtctggtactttcctcc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1636214G>T	ENST00000426508.2	-	10	1435	c.1072C>A	c.(1072-1074)Ctg>Atg	p.L358M	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	358										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGGCTGCCCAGGAAGTCTGGT	0.567													False	0	False	16:1636214	0	T	1636214	G	T	1636214	3	4	88	1	0	0	0	0	1	0	0	0	7606	991	35	3	3404	3	IFT140	16	1636214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62265	1636214	88718539	15273	22985											
CRAMP1L	57585	broad.mit.edu	37	chr16	1691164	1691164	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacaagaatgcaacaaAgctgaatgaactcattcagg	10	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1691164A>C	ENST00000397412.3	+	6	902	c.803A>C	c.(802-804)aAg>aCg	p.K268T	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K268T|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K265T|LA16c-431H6.6_ENST00000454337.1_Missense_Mutation_p.K72N			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	268						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AATGCAACAAAGCTGAATGAA	0.363													False	0	True	16:1691164	0	C	1691164	A	C	1691164	3	2	88	1	0	0	0	0	1	0	0	0	3869	72	3	4	821	4	CRAMP1L	16	1691164	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	54950	1691164	88663589	15274	22986											
CRAMP1L	57585	broad.mit.edu	37	chr16	1705257	1705257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcgaaaggtctccagcctcAtcgaattcttgaagcagaag	9	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1705257A>G	ENST00000397412.3	+	9	1174	c.1075A>G	c.(1075-1077)Atc>Gtc	p.I359V	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.I359V|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.I356V			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	359						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CTCCAGCCTCATCGAATTCTT	0.532													False	0	False	16:1705257	0	G	1705257	A	G	1705257	3	3	88	1	0	0	0	0	1	0	0	0	3869	217	8	4	1105	4	CRAMP1L	16	1705257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14093	1705257	88649496	15275	22987											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1756509	1756509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtcaaggagctcatgCcgctggtggtgaacgtgctg	17	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1756509C>T	ENST00000250894.4	+	1	326	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P57S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	57					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGAGCTCATGCCGCTGGTGGT	0.642													False	0	False	16:1756509	0	T	1756509	C	T	1756509	3	4	88	1	0	0	0	0	1	0	0	0	9353	739	26	2	171	2	MAPK8IP3	16	1756509	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51252	1756509	88598244	15276	22988											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1816924	1816924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgtcaaaggccgtgtgCtggtggctctggcggacggg	19	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1816924C>A	ENST00000250894.4	+	25	3194	c.3037C>A	c.(3037-3039)Ctg>Atg	p.L1013M	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.L1007M	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1013					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGGCCGTGTGCTGGTGGCTCT	0.697													False	0	False	16:1816924	0	A	1816924	C	A	1816924	3	1	88	1	0	0	0	0	1	0	0	0	9353	796	28	3	3151	3	MAPK8IP3	16	1816924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60415	1816924	88537829	15277	22989											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1817158	1817158	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctccctccagatggccagTgggatctgagcaactatcac	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1817158T>C	ENST00000250894.4	+	26	3251	c.3094T>C	c.(3094-3096)Tgg>Cgg	p.W1032R	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.W1026R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1032					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGATGGCCAGTGGGATCTGAG	0.622													False	0	True	16:1817158	0	C	1817158	T	C	1817158	3	2	88	1	0	0	0	0	1	0	0	0	9353	1696	59	4	3212	4	MAPK8IP3	16	1817158	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	234	1817158	88537595	15278	22990											
MRPS34	65993	broad.mit.edu	37	chr16	1822318	1822318	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcacattcagcatgggctcCtcggtgcttgtgtctccatt	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1822318C>A	ENST00000177742.3	-	3	612	c.582G>T	c.(580-582)gaG>gaT	p.E194D	MRPS34_ENST00000397375.2_Missense_Mutation_p.E187D			P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	187						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						GCATGGGCTCCTCGGTGCTTG	0.592													False	0	False	16:1822318	0	A	1822318	C	A	1822318	3	1	88	1	0	0	0	0	1	0	0	0	9910	680	24	3	99	3	MRPS34	16	1822318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5160	1822318	88532435	15279	22991											
EME2	197342	broad.mit.edu	37	chr16	1825702	1825702	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtgcgtgatgccaaggCtgaaggggggcaggatcacc	16	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1825702C>A	ENST00000307394.7	+	6	949	c.949C>A	c.(949-951)Ctg>Atg	p.L317M	EME2_ENST00000568449.1_Intron			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	266					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GATGCCAAGGCTGAAGGGGGG	0.607								Direct reversal of damage;Homologous recombination					False	0	False	16:1825702	0	A	1825702	C	A	1825702	3	1	88	1	0	0	0	0	1	0	0	0	5121	796	28	3	971	3	EME2	16	1825702	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3384	1825702	88529051	15280	22992											
SPSB3	90864	broad.mit.edu	37	chr16	1827164	1827164	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctggggtgggcggaggtCgctgcctggggatcggacac	20	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827164C>T	ENST00000566339.1	-	7	1332	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	SPSB3_ENST00000301717.4_Silent_p.A334A	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	334					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGGCGGAGGTCGCTGCCTGGG	0.677													False	0	False	16:1827164	0	T	1827164	C	T	1827164	2	4	88	1	0	0	0	0	0	0	0	1	15196	871	31	1		1	SPSB3	16	1827164	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1462	1827164	88527589	15281	22993											
SPSB3	90864	broad.mit.edu	37	chr16	1827764	1827764	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcacctatacacttcctgttCttgaaaaaggtgagtgtgcc	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827764C>A	ENST00000566339.1	-	6	1035	c.705G>T	c.(703-705)aaG>aaT	p.K235N	SPSB3_ENST00000301717.4_Missense_Mutation_p.K235N	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	235	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						ACTTCCTGTTCTTGAAAAAGG	0.617													False	0	False	16:1827764	0	A	1827764	C	A	1827764	3	1	88	1	0	0	0	0	1	0	0	0	15196	912	32	3	370	3	SPSB3	16	1827764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	600	1827764	88526989	15282	22994											
SPSB3	90864	broad.mit.edu	37	chr16	1827983	1827983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgtcctcatccctgcCcagcaggctgcagaacgtgt	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827983C>T	ENST00000566339.1	-	5	889	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	SPSB3_ENST00000301717.4_Missense_Mutation_p.G187S	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	187	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						TCATCCCTGCCCAGCAGGCTG	0.697													False	0	True	16:1827983	0	T	1827983	C	T	1827983	3	4	88	1	0	0	0	0	1	0	0	0	15196	623	22	2	520	2	SPSB3	16	1827983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219	1827983	88526770	15283	22995											
IGFALS	3483	broad.mit.edu	37	chr16	1841445	1841445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagccagctgccggatgCggttgtggcccagctgcagc	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1841445C>T	ENST00000415638.3	-	2	1167	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	IGFALS_ENST00000215539.3_Missense_Mutation_p.R325H	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	325					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CTGCCGGATGCGGTTGTGGCC	0.667													False	0	False	16:1841445	0	T	1841445	C	T	1841445	3	4	88	1	0	0	0	0	1	0	0	0	7627	768	27	1	847	1	IGFALS	16	1841445	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13462	1841445	88513308	15284	22996											
HAGH	3029	broad.mit.edu	37	chr16	1866938	1866938	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggcggcattgccgggctCcacgtggcgtgcaaacttga	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1866938C>T	ENST00000455446.2	-	6	640	c.594G>A	c.(592-594)tgG>tgA	p.W198*	HAGH_ENST00000566709.1_Missense_Mutation_p.E187K|HAGH_ENST00000397356.3_Missense_Mutation_p.E235K|HAGH_ENST00000397353.2_Missense_Mutation_p.E187K			Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	0					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TTGCCGGGCTCCACGTGGCGT	0.627													False	0	False	16:1866938	0	T	1866938	C	T	1866938	4	4	88	1	0	0	0	0	0	1	0	0	6992	864	30	2	235	2	HAGH	16	1866938	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25493	1866938	88487815	15285	22997											
FAHD1	81889	broad.mit.edu	37	chr16	1877337	1877337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtcagggagatgcgcaGcgcggtgttgagcgagcccg	17	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1877337G>T	ENST00000382666.4	+	1	370	c.107G>T	c.(106-108)aGc>aTc	p.S36I	FAHD1_ENST00000427358.2_Missense_Mutation_p.S36I|FAHD1_ENST00000382668.4_Missense_Mutation_p.S36I	NM_001018104.2	NP_001018114.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	36						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						GAGATGCGCAGCGCGGTGTTG	0.647													False	0	False	16:1877337	0	T	1877337	G	T	1877337	3	4	88	1	0	0	0	0	1	0	0	0	5408	971	34	3	109	3	FAHD1	16	1877337	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10399	1877337	88477416	15286	22998											
RPL3L	6123	broad.mit.edu	37	chr16	1995840	1995840	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acccagcactgccaacctttCtcagcgtaatgacccgcttc	6	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1995840C>A	ENST00000268661.7	-	8	1137	c.1043G>T	c.(1042-1044)aGa>aTa	p.R348I		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	348					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCAACCTTTCTCAGCGTAAT	0.627													False	0	True	16:1995840	0	A	1995840	C	A	1995840	3	1	88	1	0	0	0	0	1	0	0	0	13673	913	32	3	192	3	RPL3L	16	1995840	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118503	1995840	88358913	15287	22999											
RPL3L	6123	broad.mit.edu	37	chr16	1997042	1997042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaatgcaggccaccttgCgcaggcccttatgggtcttc	11	15	1	0	rs149043671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1997042C>T	ENST00000268661.7	-	6	840	c.746G>A	c.(745-747)cGc>cAc	p.R249H		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	249					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCACCTTGCGCAGGCCCTT	0.672													False	0	False	16:1997042	0	T	1997042	C	T	1997042	3	4	88	1	0	0	0	0	1	0	0	0	13673	768	27	1	497	1	RPL3L	16	1997042	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1202	1997042	88357711	15288	23000											
GFER	2671	broad.mit.edu	37	chr16	2035947	2035947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacaatgaagtgaaccGcaagctgggcaagcctgact	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2035947G>A	ENST00000248114.6	+	3	542	c.536G>A	c.(535-537)cGc>cAc	p.R179H	GFER_ENST00000567719.1_Missense_Mutation_p.R104H|GFER_ENST00000569451.1_3'UTR|AC005606.14_ENST00000564438.1_lincRNA	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	179	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity			endometrium(1)|large_intestine(1)|lung(3)	5						GAAGTGAACCGCAAGCTGGGC	0.607													False	0	False	16:2035947	0	A	2035947	G	A	2035947	3	1	88	1	0	0	0	0	1	0	0	0	6383	1087	38	1	546	1	GFER	16	2035947	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38905	2035947	88318806	15289	23001											
GFER	2671	broad.mit.edu	37	chr16	2035969	2035969	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagctgggcaagcctgacttCgactgctcaaaagtggatga	12	9	1	2	rs142220504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2035969C>T	ENST00000248114.6	+	3	564	c.558C>T	c.(556-558)ttC>ttT	p.F186F	GFER_ENST00000567719.1_Silent_p.F111F|GFER_ENST00000569451.1_3'UTR|AC005606.14_ENST00000564438.1_lincRNA	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	186	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	p.F186F(1)		endometrium(1)|large_intestine(1)|lung(3)	5						AGCCTGACTTCGACTGCTCAA	0.607													False	0	False	16:2035969	0	T	2035969	C	T	2035969	2	4	88	1	0	0	0	0	0	0	0	1	6383	883	31	1		1	GFER	16	2035969	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	2035969	88318784	15290	23002											
SYNGR3	9143	broad.mit.edu	37	chr16	2042719	2042719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccagggccggccacgacGcaggcgggggacgcggcgcg	21	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2042719G>A	ENST00000562045.1	+	2	1171	c.155G>A	c.(154-156)cGc>cAc	p.R52H	SYNGR3_ENST00000248121.2_Silent_p.T140T			O43761	SNG3_HUMAN	synaptogyrin 3	0	MARVEL.				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle				endometrium(1)|lung(2)	3						CGGCCACGACGCAGGCGGGGG	0.721													False	0	False	16:2042719	0	A	2042719	G	A	2042719	3	1	88	1	0	0	0	0	1	0	0	0	15532	1074	38	1	430	1	SYNGR3	16	2042719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6750	2042719	88312034	15291	23003											
SYNGR3	9143	broad.mit.edu	37	chr16	2042976	2042976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctaccccggctatccggTgggcagcggcgtggagggca	18	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2042976T>C	ENST00000248121.2	+	4	751	c.593T>C	c.(592-594)gTg>gCg	p.V198A	SYNGR3_ENST00000562045.1_3'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	198					positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle				endometrium(1)|lung(2)	3						GGCTATCCGGTGGGCAGCGGC	0.692													False	0	True	16:2042976	0	C	2042976	T	C	2042976	3	2	88	1	0	0	0	0	1	0	0	0	15532	1696	59	4	607	4	SYNGR3	16	2042976	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	257	2042976	88311777	15292	23004											
ZNF598	90850	broad.mit.edu	37	chr16	2048484	2048484	+	Missense_Mutation	SNP	C	C	T													caggagctcctgctgcttggCcgtgtcgggcagcaggacca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2048484C>T	ENST00000563630.1	-	12	2541	c.2299G>A	c.(2299-2301)Gcc>Acc	p.A767T	ZNF598_ENST00000562103.1_Missense_Mutation_p.A767T|ZNF598_ENST00000431526.1_Missense_Mutation_p.A822T			Q86UK7	ZN598_HUMAN	zinc finger protein 598	822						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGCTGCTTGGCCGTGTCGGGC	0.582													False	0	False	16:2048484	0	T	2048484	C	T	2048484	3	4	88	1	0	0	0	0	1	0	0	0	18111	739	26	2	254	2	ZNF598	16	2048484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5508	2048484	88306269	15293	23005	245	2									
ZNF598	90850	broad.mit.edu	37	chr16	2048485	2048485	+	Silent	SNP	C	C	T													aggagctcctgctgcttggcCgtgtcgggcagcaggaccag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2048485C>T	ENST00000563630.1	-	12	2540	c.2298G>A	c.(2296-2298)acG>acA	p.T766T	ZNF598_ENST00000562103.1_Silent_p.T766T|ZNF598_ENST00000431526.1_Silent_p.T821T			Q86UK7	ZN598_HUMAN	zinc finger protein 598	821						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCTGCTTGGCCGTGTCGGGCA	0.582													False	0	False	16:2048485	0	T	2048485	C	T	2048485	2	4	88	1	0	0	0	0	0	0	0	1	18111	639	23	1		1	ZNF598	16	2048485	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1	2048485	88306268	15294	23006	245	2									
ZNF598	90850	broad.mit.edu	37	chr16	2049591	2049591	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggaccccaggggccttggGagcccagggggttccttggg	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2049591G>A	ENST00000563630.1	-	9	2036	c.1794C>T	c.(1792-1794)ctC>ctT	p.L598L	ZNF598_ENST00000562103.1_Silent_p.L598L|ZNF598_ENST00000431526.1_Silent_p.L653L			Q86UK7	ZN598_HUMAN	zinc finger protein 598	653	Pro-rich.					intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGGGCCTTGGGAGCCCAGGGG	0.731													False	0	True	16:2049591	0	A	2049591	G	A	2049591	2	1	88	1	0	0	0	0	0	0	0	1	18111	1161	41	2		2	ZNF598	16	2049591	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1106	2049591	88305162	15295	23007											
SLC9A3R2	9351	broad.mit.edu	37	chr16	2087936	2087936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcgagtcaacaagcgcgCgccacagatggactggaaca	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2087936C>T	ENST00000424542.2	+	7	1103	c.965C>T	c.(964-966)gCg>gTg	p.A322V	SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A216V|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A211V|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A311V	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	322					protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						AACAAGCGCGCGCCACAGATG	0.642													False	0	True	16:2087936	0	T	2087936	C	T	2087936	3	4	88	1	0	0	0	0	1	0	0	0	14795	768	27	1	991	1	SLC9A3R2	16	2087936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38345	2087936	88266817	15296	23008											
NTHL1	4913	broad.mit.edu	37	chr16	2094713	2094713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccaccgtcaggccccgcGcccgcagtcgctgcatggcg	13	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2094713G>A	ENST00000219066.1	-	3	485	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	156					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CAGGCCCCGCGCCCGCAGTCG	0.642								Base excision repair (BER), DNA glycosylases					False	0	True	16:2094713	0	A	2094713	G	A	2094713	3	1	88	1	0	0	0	0	1	0	0	0	10766	1087	38	1	487	1	NTHL1	16	2094713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6777	2094713	88260040	15297	23009											
NTHL1	4913	broad.mit.edu	37	chr16	2096182	2096182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtccccagatggtccacagGtgcatcctttttgttcctca	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2096182G>T	ENST00000219066.1	-	2	343	c.325C>A	c.(325-327)Cct>Act	p.P109T		NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	109					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						TGGTCCACAGGTGCATCCTTT	0.612								Base excision repair (BER), DNA glycosylases					False	0	False	16:2096182	0	T	2096182	G	T	2096182	3	4	88	1	0	0	0	0	1	0	0	0	10766	1261	44	3	633	3	NTHL1	16	2096182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1469	2096182	88258571	15298	23010											
TSC2	7249	broad.mit.edu	37	chr16	2112582	2112582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggattcagaacctgcaggcgCtgatggagagattcttcagg	14	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2112582C>T	ENST00000219476.3	+	13	1972	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L	TSC2_ENST00000568454.1_Silent_p.L459L|TSC2_ENST00000439673.2_Silent_p.L411L|TSC2_ENST00000350773.4_Silent_p.L448L|TSC2_ENST00000401874.2_Silent_p.L448L|TSC2_ENST00000382538.6_Silent_p.L399L|TSC2_ENST00000353929.4_Silent_p.L448L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	448					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGCAGGCGCTGATGGAGAG	0.612			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				False	0	False	16:2112582	0	T	2112582	C	T	2112582	2	4	88	1	0	0	0	0	0	0	0	1	16689	796	28	2		2	TSC2	16	2112582	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16400	2112582	88242171	15299	23011											
TSC2	7249	broad.mit.edu	37	chr16	2120560	2120560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctacaccctgccaatcgCgagcagcatccggctgcagg	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2120560C>T	ENST00000219476.3	+	17	2450	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	TSC2_ENST00000568454.1_Missense_Mutation_p.A618V|TSC2_ENST00000439673.2_Missense_Mutation_p.A570V|TSC2_ENST00000350773.4_Missense_Mutation_p.A607V|TSC2_ENST00000401874.2_Missense_Mutation_p.A607V|TSC2_ENST00000382538.6_Missense_Mutation_p.A558V|TSC2_ENST00000353929.4_Missense_Mutation_p.A607V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	607			A -> T.		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGCCAATCGCGAGCAGCATC	0.622			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				False	0	False	16:2120560	0	T	2120560	C	T	2120560	3	4	88	1	0	0	0	0	1	0	0	0	16689	768	27	1	1882	1	TSC2	16	2120560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7978	2120560	88234193	15300	23012											
TSC2	7249	broad.mit.edu	37	chr16	2124212	2124212	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcctgcagcgcgagatggtCtactgcctggagcagggcct	14	13	1	1	rs137854061		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2124212C>A	ENST00000219476.3	+	22	2997	c.2367C>A	c.(2365-2367)gtC>gtA	p.V789V	TSC2_ENST00000568454.1_Silent_p.V800V|TSC2_ENST00000439673.2_Silent_p.V752V|TSC2_ENST00000350773.4_Silent_p.V789V|TSC2_ENST00000401874.2_Silent_p.V789V|TSC2_ENST00000382538.6_Silent_p.V740V|TSC2_ENST00000353929.4_Silent_p.V789V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	789					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCGAGATGGTCTACTGCCTGG	0.652			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				False	0	False	16:2124212	0	A	2124212	C	A	2124212	2	1	88	1	0	0	0	0	0	0	0	1	16689	900	32	3		3	TSC2	16	2124212	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3652	2124212	88230541	15301	23013											
TSC2	7249	broad.mit.edu	37	chr16	2129279	2129279	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acgctccctgtcttctaggtCtcctgtgggcgagttcctcc	10	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2129279C>T	ENST00000219476.3	+	28	3764	c.3134C>T	c.(3133-3135)tCt>tTt	p.S1045F	TSC2_ENST00000568454.1_Missense_Mutation_p.S1012F|TSC2_ENST00000439673.2_Missense_Mutation_p.S965F|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000350773.4_Missense_Mutation_p.S1045F|TSC2_ENST00000401874.2_Missense_Mutation_p.S1001F|TSC2_ENST00000382538.6_Missense_Mutation_p.S953F|TSC2_ENST00000353929.4_Missense_Mutation_p.S1002F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1045					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCTTCTAGGTCTCCTGTGGGC	0.647			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				False	0	False	16:2129279	0	T	2129279	C	T	2129279	3	4	88	1	0	0	0	0	1	0	0	0	16689	913	32	2	3240	2	TSC2	16	2129279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5067	2129279	88225474	15302	23014											
TSC2	7249	broad.mit.edu	37	chr16	2130198	2130198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgagttggcgccctggacGtgccggcctcccagttcctg	13	15	0	0	rs45517294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2130198G>A	ENST00000219476.3	+	30	4060	c.3430G>A	c.(3430-3432)Gtg>Atg	p.V1144M	TSC2_ENST00000568454.1_Missense_Mutation_p.V1111M|TSC2_ENST00000439673.2_Missense_Mutation_p.V1064M|TSC2_ENST00000350773.4_Missense_Mutation_p.V1144M|TSC2_ENST00000401874.2_Missense_Mutation_p.V1100M|TSC2_ENST00000382538.6_Missense_Mutation_p.V1052M|TSC2_ENST00000353929.4_Missense_Mutation_p.V1101M	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1144			V -> M (in TSC2).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGCCCTGGACGTGCCGGCCTC	0.622			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				False	0	False	16:2130198	0	A	2130198	G	A	2130198	3	1	88	1	0	0	0	0	1	0	0	0	16689	1145	40	1	3544	1	TSC2	16	2130198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	919	2130198	88224555	15303	23015											
TSC2	7249	broad.mit.edu	37	chr16	2130329	2130329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaacctggcggcctatgtGcccctgctgacccagggctg	13	15	0	1	rs137854121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2130329G>A	ENST00000219476.3	+	30	4191	c.3561G>A	c.(3559-3561)gtG>gtA	p.V1187V	TSC2_ENST00000568454.1_Silent_p.V1154V|TSC2_ENST00000439673.2_Silent_p.V1107V|TSC2_ENST00000350773.4_Silent_p.V1187V|TSC2_ENST00000401874.2_Silent_p.V1143V|TSC2_ENST00000382538.6_Silent_p.V1095V|TSC2_ENST00000353929.4_Silent_p.V1144V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1187					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGGCCTATGTGCCCCTGCTGA	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				False	0	True	16:2130329	0	A	2130329	G	A	2130329	2	1	88	1	0	0	0	0	0	0	0	1	16689	1306	46	2		2	TSC2	16	2130329	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131	2130329	88224424	15304	23016											
TSC2	7249	broad.mit.edu	37	chr16	2134252	2134252	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagtctccagccaggaGgagaagtcgctccacgcgga	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2134252G>T	ENST00000219476.3	+	34	4659	c.4029G>T	c.(4027-4029)gaG>gaT	p.E1343D	TSC2_ENST00000568454.1_Missense_Mutation_p.E1287D|TSC2_ENST00000439673.2_Missense_Mutation_p.E1240D|TSC2_ENST00000350773.4_Missense_Mutation_p.E1320D|TSC2_ENST00000401874.2_Missense_Mutation_p.E1276D|TSC2_ENST00000382538.6_Missense_Mutation_p.E1228D|TSC2_ENST00000353929.4_Missense_Mutation_p.E1300D	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1343					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCAGCCAGGAGGAGAAGTCGC	0.647			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				False	0	False	16:2134252	0	T	2134252	G	T	2134252	3	4	88	1	0	0	0	0	1	0	0	0	16689	991	35	3	4159	3	TSC2	16	2134252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3923	2134252	88220501	15305	23017											
TSC2	7249	broad.mit.edu	37	chr16	2136299	2136299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgaaggactgccagccgGacaaggtgtacctgggaggc	16	10	0	1	rs137854039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2136299G>A	ENST00000219476.3	+	37	5398	c.4768G>A	c.(4768-4770)Gac>Aac	p.D1590N	TSC2_ENST00000568454.1_Missense_Mutation_p.D1534N|TSC2_ENST00000439673.2_Missense_Mutation_p.D1487N|TSC2_ENST00000350773.4_Missense_Mutation_p.D1567N|TSC2_ENST00000401874.2_Missense_Mutation_p.D1523N|TSC2_ENST00000382538.6_Missense_Mutation_p.D1475N|TSC2_ENST00000353929.4_Missense_Mutation_p.D1547N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1590	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGCCAGCCGGACAAGGTGTA	0.627			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				False	0	False	16:2136299	0	A	2136299	G	A	2136299	3	1	88	1	0	0	0	0	1	0	0	0	16689	1174	41	2	4910	2	TSC2	16	2136299	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2047	2136299	88218454	15306	23018											
PKD1	5310	broad.mit.edu	37	chr16	2143020	2143020	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctttgcagacggtaggcGtgcccatggcatgaggcatc	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2143020G>A	ENST00000262304.4	-	38	11299	c.11091C>T	c.(11089-11091)caC>caT	p.H3697H	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.H3696H	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3697					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GACGGTAGGCGTGCCCATGGC	0.642													False	0	False	16:2143020	0	A	2143020	G	A	2143020	2	1	88	1	0	0	0	0	0	0	0	1	12032	1136	40	1		1	PKD1	16	2143020	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6721	2143020	88211733	15307	23019											
PKD1	5310	broad.mit.edu	37	chr16	2147772	2147772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcactcttcatctgtccaaCaaaggcctgctgagaggtgc	10	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2147772C>T	ENST00000262304.4	-	32	10385	c.10177G>A	c.(10177-10179)Gtt>Att	p.V3393I	PKD1_ENST00000423118.1_Missense_Mutation_p.V3392I	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3393					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATCTGTCCAACAAAGGCCTGC	0.587													False	0	True	16:2147772	0	T	2147772	C	T	2147772	3	4	88	1	0	0	0	0	1	0	0	0	12032	478	17	2	2794	2	PKD1	16	2147772	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4752	2147772	88206981	15308	23020											
PKD1	5310	broad.mit.edu	37	chr16	2147955	2147955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtccagcacctgctgccCggcaggtgtggggctcgggc	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2147955C>T	ENST00000262304.4	-	31	10289	c.10081G>A	c.(10081-10083)Ggg>Agg	p.G3361R	PKD1_ENST00000423118.1_Missense_Mutation_p.G3361R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3361					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCTGCTGCCCGGCAGGTGTG	0.657													False	0	True	16:2147955	0	T	2147955	C	T	2147955	3	4	88	1	0	0	0	0	1	0	0	0	12032	652	23	1	2894	1	PKD1	16	2147955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	183	2147955	88206798	15309	23021											
PKD1	5310	broad.mit.edu	37	chr16	2153410	2153410	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctgcggtggccccgggcaGcccagtccgagttgttgggc	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2153410G>T	ENST00000262304.4	-	23	8856	c.8648C>A	c.(8647-8649)gCt>gAt	p.A2883D	PKD1_ENST00000423118.1_Missense_Mutation_p.A2883D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2883					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCCCGGGCAGCCCAGTCCGA	0.682													False	0	True	16:2153410	0	T	2153410	G	T	2153410	3	4	88	1	0	0	0	0	1	0	0	0	12032	971	34	3	4359	3	PKD1	16	2153410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5455	2153410	88201343	15310	23022											
PKD1	5310	broad.mit.edu	37	chr16	2153863	2153863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgagggctgtggtgccCgcacgtccgagctggccagg	17	13	1	1	rs78185588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2153863C>T	ENST00000262304.4	-	23	8403	c.8195G>A	c.(8194-8196)cGg>cAg	p.R2732Q	PKD1_ENST00000423118.1_Missense_Mutation_p.R2732Q|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2732	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGTGGTGCCCGCACGTCCGA	0.642													False	0	True	16:2153863	0	T	2153863	C	T	2153863	3	4	88	1	0	0	0	0	1	0	0	0	12032	652	23	1	4812	1	PKD1	16	2153863	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453	2153863	88200890	15311	23023											
PKD1	5310	broad.mit.edu	37	chr16	2160529	2160529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgacgagcccccgcacgcGccgcttcaccgtcacattga	10	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2160529G>A	ENST00000262304.4	-	15	4847	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C	PKD1_ENST00000423118.1_Missense_Mutation_p.R1547C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1547	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCCGCACGCGCCGCTTCACC	0.647													False	0	False	16:2160529	0	A	2160529	G	A	2160529	3	1	88	1	0	0	0	0	1	0	0	0	12032	1087	38	1	8400	1	PKD1	16	2160529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6666	2160529	88194224	15312	23024											
PKD1	5310	broad.mit.edu	37	chr16	2161761	2161761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggccggccaccaggacgCcgtcactcacacccacagcc	10	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2161761C>T	ENST00000262304.4	-	15	3615	c.3407G>A	c.(3406-3408)gGc>gAc	p.G1136D	PKD1_ENST00000423118.1_Missense_Mutation_p.G1136D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1136	PKD 6.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACCAGGACGCCGTCACTCAC	0.682													False	0	False	16:2161761	0	T	2161761	C	T	2161761	3	4	88	1	0	0	0	0	1	0	0	0	12032	739	26	2	9632	2	PKD1	16	2161761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1232	2161761	88192992	15313	23025											
PKD1	5310	broad.mit.edu	37	chr16	2161784	2161784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactcacacccacagccacGgagggcagggaggcgcgcac	13	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2161784G>A	ENST00000262304.4	-	15	3592	c.3384C>T	c.(3382-3384)tcC>tcT	p.S1128S	PKD1_ENST00000423118.1_Silent_p.S1128S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1128	PKD 5.|PKD 6.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACAGCCACGGAGGGCAGGG	0.672													False	0	False	16:2161784	0	A	2161784	G	A	2161784	2	1	88	1	0	0	0	0	0	0	0	1	12032	1103	39	1		1	PKD1	16	2161784	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	2161784	88192969	15314	23026											
PKD1	5310	broad.mit.edu	37	chr16	2164407	2164407	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccagggcagggcagaCattctcaaagcgggcgctga	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2164407C>G	ENST00000262304.4	-	11	2825	c.2617G>C	c.(2617-2619)Gtc>Ctc	p.V873L	PKD1_ENST00000423118.1_Missense_Mutation_p.V873L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	873	PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCAGGGCAGACATTCTCAAAG	0.667													False	0	False	16:2164407	0	G	2164407	C	G	2164407	3	3	88	1	0	0	0	0	1	0	0	0	12032	478	17	5	10438	5	PKD1	16	2164407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2623	2164407	88190346	15315	23027											
PKD1	5310	broad.mit.edu	37	chr16	2164529	2164529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtagaggcggccgtcgCggggggcagggtagatgacc	20	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2164529C>T	ENST00000262304.4	-	11	2703	c.2495G>A	c.(2494-2496)cGc>cAc	p.R832H	PKD1_ENST00000423118.1_Missense_Mutation_p.R832H	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	832					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGGCCGTCGCGGGGGGCAGG	0.692													False	0	True	16:2164529	0	T	2164529	C	T	2164529	3	4	88	1	0	0	0	0	1	0	0	0	12032	768	27	1	10560	1	PKD1	16	2164529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122	2164529	88190224	15316	23028											
PKD1	5310	broad.mit.edu	37	chr16	2168027	2168027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcagcacatagcgatgCgaggcagccggcccagcggc	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2168027C>T	ENST00000262304.4	-	5	1174	c.966G>A	c.(964-966)tcG>tcA	p.S322S	PKD1_ENST00000423118.1_Silent_p.S322S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	322	PKD 1.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CATAGCGATGCGAGGCAGCCG	0.701													False	0	False	16:2168027	0	T	2168027	C	T	2168027	2	4	88	1	0	0	0	0	0	0	0	1	12032	755	27	1		1	PKD1	16	2168027	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3498	2168027	88186726	15317	23029											
PKD1	5310	broad.mit.edu	37	chr16	2168110	2168110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgacagggagcggggcagCgatgtggaaggctgctagct	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2168110C>T	ENST00000262304.4	-	5	1091	c.883G>A	c.(883-885)Gct>Act	p.A295T	PKD1_ENST00000423118.1_Missense_Mutation_p.A295T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	295	PKD 1.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCGGGGCAGCGATGTGGAAG	0.711													False	0	False	16:2168110	0	T	2168110	C	T	2168110	3	4	88	1	0	0	0	0	1	0	0	0	12032	768	27	1	12196	1	PKD1	16	2168110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	2168110	88186643	15318	23030											
TRAF7	84231	broad.mit.edu	37	chr16	2223366	2223366	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaaagctctcggagaagatCgaccagctagagaagagcct	13	9	1	4	rs113743245		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2223366C>T	ENST00000326181.6	+	10	1110	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	326					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CGGAGAAGATCGACCAGCTAG	0.637													False	0	False	16:2223366	0	T	2223366	C	T	2223366	2	4	88	1	0	0	0	0	0	0	0	1	16529	874	31	1		1	TRAF7	16	2223366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55256	2223366	88131387	15319	23031											
TRAF7	84231	broad.mit.edu	37	chr16	2223811	2223811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagctgtcccacatcaacgCgcggctgaacatgggcatcc	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2223811C>T	ENST00000326181.6	+	12	1241	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	370					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CACATCAACGCGCGGCTGAAC	0.706													False	0	True	16:2223811	0	T	2223811	C	T	2223811	3	4	88	1	0	0	0	0	1	0	0	0	16529	768	27	1	1151	1	TRAF7	16	2223811	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	445	2223811	88130942	15320	23032											
CASKIN1	57524	broad.mit.edu	37	chr16	2236773	2236773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacccggtcattgcccgtcCggttgtcatggatgcagccc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2236773C>T	ENST00000343516.6	-	10	1075	c.983G>A	c.(982-984)cGg>cAg	p.R328Q		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	328	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ATTGCCCGTCCGGTTGTCATG	0.667													False	0	False	16:2236773	0	T	2236773	C	T	2236773	3	4	88	1	0	0	0	0	1	0	0	0	2686	652	23	1	3356	1	CASKIN1	16	2236773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12962	2236773	88117980	15321	23033											
CASKIN1	57524	broad.mit.edu	37	chr16	2236819	2236819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggccatccggatgctgctCgaggacctggccagtaaggt	14	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2236819C>T	ENST00000343516.6	-	10	1029	c.937G>A	c.(937-939)Gag>Aag	p.E313K		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	313	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGATGCTGCTCGAGGACCTGG	0.672													False	0	False	16:2236819	0	T	2236819	C	T	2236819	3	4	88	1	0	0	0	0	1	0	0	0	2686	893	31	1	3402	1	CASKIN1	16	2236819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	2236819	88117934	15322	23034											
CASKIN1	57524	broad.mit.edu	37	chr16	2237180	2237180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcccacctcgcaacagctgCttgatctccctgctggcctg	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2237180C>A	ENST00000343516.6	-	8	914	c.822G>T	c.(820-822)aaG>aaT	p.K274N		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	274					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCAACAGCTGCTTGATCTCCC	0.662													False	0	False	16:2237180	0	A	2237180	C	A	2237180	3	1	88	1	0	0	0	0	1	0	0	0	2686	796	28	3	3525	3	CASKIN1	16	2237180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	361	2237180	88117573	15323	23035											
CASKIN1	57524	broad.mit.edu	37	chr16	2239246	2239246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggagactcaccccaacgCggccgaactcgcaggccagg	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2239246C>T	ENST00000343516.6	-	5	571	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	160					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CACCCCAACGCGGCCGAACTC	0.662													False	0	False	16:2239246	0	T	2239246	C	T	2239246	3	4	88	1	0	0	0	0	1	0	0	0	2686	768	27	1	3880	1	CASKIN1	16	2239246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2066	2239246	88115507	15324	23036											
MLST8	64223	broad.mit.edu	37	chr16	2256400	2256400	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccggaccgcagcatgatTgctgctgcaggtatctgtga	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2256400T>C	ENST00000569417.1	+	3	525	c.171T>C	c.(169-171)atT>atC	p.I57I	MLST8_ENST00000397124.1_Silent_p.I57I|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000382450.4_Silent_p.I56I|MLST8_ENST00000301725.7_Silent_p.I76I|MLST8_ENST00000301724.10_Silent_p.I57I|MLST8_ENST00000564088.1_Silent_p.I57I|MLST8_ENST00000565250.1_Silent_p.I57I	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	57					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						GCAGCATGATTGCTGCTGCAG	0.582													False	0	True	16:2256400	0	C	2256400	T	C	2256400	2	2	88	1	0	0	0	0	0	0	0	1	9701	1800	63	4		4	MLST8	16	2256400	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17154	2256400	88098353	15325	23037											
PGP	283871	broad.mit.edu	37	chr16	2264199	2264199	+	Silent	SNP	G	G	A													catgttggtgcccacgagcaGgcagccgggctgctgcaggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2264199G>A	ENST00000333503.7	-	1	609	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L		NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	194					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						CCCACGAGCAGGCAGCCGGGC	0.706													False	0	True	16:2264199	0	A	2264199	G	A	2264199	2	1	88	1	0	0	0	0	0	0	0	1	11871	991	35	2		2	PGP	16	2264199	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7799	2264199	88090554	15326	23038	246	2									
PGP	283871	broad.mit.edu	37	chr16	2264203	2264203	+	Silent	SNP	G	G	A													ttggtgcccacgagcaggcaGccgggctgctgcaggtagcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2264203G>A	ENST00000333503.7	-	1	605	c.576C>T	c.(574-576)ggC>ggT	p.G192G		NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	192					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						CGAGCAGGCAGCCGGGCTGCT	0.706													False	0	True	16:2264203	0	A	2264203	G	A	2264203	2	1	88	1	0	0	0	0	0	0	0	1	11871	958	34	2		2	PGP	16	2264203	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4	2264203	88090550	15327	23039	246	2									
E4F1	1877	broad.mit.edu	37	chr16	2279622	2279622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcactgtggcccacatcGtggtggaggcggcctctctg	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2279622G>A	ENST00000301727.4	+	3	409	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	E4F1_ENST00000564139.1_Missense_Mutation_p.V121M|E4F1_ENST00000565090.1_Missense_Mutation_p.V121M	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	121					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.V121L(1)		ovary(1)	1						GGCCCACATCGTGGTGGAGGC	0.592													False	0	False	16:2279622	0	A	2279622	G	A	2279622	3	1	88	1	0	0	0	0	1	0	0	0	4904	1145	40	1	371	1	E4F1	16	2279622	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15419	2279622	88075131	15328	23040											
ABCA3	21	broad.mit.edu	37	chr16	2328417	2328417	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatgacagcaggctctccGatcagggcgatgccggtgct	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2328417G>A	ENST00000301732.5	-	30	5290	c.4590C>T	c.(4588-4590)atC>atT	p.I1530I	ABCA3_ENST00000382381.3_Silent_p.I1472I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1530	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CAGGCTCTCCGATCAGGGCGA	0.637													False	0	False	16:2328417	0	A	2328417	G	A	2328417	2	1	88	1	0	0	0	0	0	0	0	1	33	1048	37	1		1	ABCA3	16	2328417	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48795	2328417	88026336	15329	23041											
ABCA3	21	broad.mit.edu	37	chr16	2334403	2334403	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gggcagcaccaggaacacgtGatccagggttttggaaagtt	14	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2334403G>A	ENST00000301732.5	-	25	4439	c.3739C>T	c.(3739-3741)Cac>Tac	p.H1247Y	ABCA3_ENST00000382381.3_Missense_Mutation_p.H1189Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1247					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGGAACACGTGATCCAGGGTT	0.587													False	0	False	16:2334403	0	A	2334403	G	A	2334403	3	1	88	1	0	0	0	0	1	0	0	0	33	1290	45	2	1411	2	ABCA3	16	2334403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5986	2334403	88020350	15330	23042											
ABCA3	21	broad.mit.edu	37	chr16	2347331	2347331	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggccccaccgctcaccGtatttctgcttgaggaacag	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2347331G>A	ENST00000301732.5	-	17	2962	c.2262C>T	c.(2260-2262)taC>taT	p.Y754Y	ABCA3_ENST00000382381.3_Splice_Site_p.Y696Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	754	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				ACCGCTCACCGTATTTCTGCT	0.642													False	0	False	16:2347331	0	A	2347331	G	A	2347331	5	1	88	1	0	0	0	0	0	0	1	0	33	1159	40	1	2920	1	ABCA3	16	2347331	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12928	2347331	88007422	15331	23043											
ABCA3	21	broad.mit.edu	37	chr16	2347394	2347394	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccccttggccatgatggcGatgcggtctcccagcaggtc	12	15	1	1	rs138901284	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2347394G>A	ENST00000301732.5	-	17	2899	c.2199C>T	c.(2197-2199)atC>atT	p.I733I	ABCA3_ENST00000382381.3_Silent_p.I675I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	733	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCATGATGGCGATGCGGTCTC	0.632													False	0	False	16:2347394	0	A	2347394	G	A	2347394	2	1	88	1	0	0	0	0	0	0	0	1	33	1048	37	1		1	ABCA3	16	2347394	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63	2347394	88007359	15332	23044											
ABCA3	21	broad.mit.edu	37	chr16	2358456	2358456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggcaaacactcacctttcGcctcaaatttcccaatgagc	5	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2358456G>A	ENST00000301732.5	-	11	1980	c.1280C>T	c.(1279-1281)gCg>gTg	p.A427V	ABCA3_ENST00000382381.3_Intron	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	427					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A427V(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTCACCTTTCGCCTCAAATTT	0.557													False	0	False	16:2358456	0	A	2358456	G	A	2358456	3	1	88	1	0	0	0	0	1	0	0	0	33	1087	38	1	3926	1	ABCA3	16	2358456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11062	2358456	87996297	15333	23045											
CCNF	899	broad.mit.edu	37	chr16	2499376	2499376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttcctctgcgagctcTccctgctgcacaccagcctg	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2499376T>C	ENST00000397066.4	+	12	1400	c.1312T>C	c.(1312-1314)Tcc>Ccc	p.S438P		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	438					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTGCGAGCTCTCCCTGCTGCA	0.652													False	0	True	16:2499376	0	C	2499376	T	C	2499376	3	2	88	1	0	0	0	0	1	0	0	0	2945	1551	54	4	1358	4	CCNF	16	2499376	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140920	2499376	87855377	15334	23046											
C16orf59	80178	broad.mit.edu	37	chr16	2510961	2510961	+	Missense_Mutation	SNP	C	C	A													atctaggtccattgtcacctCttctggcacgacagcctccg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2510961C>A	ENST00000569496.1	+	4	400	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000361837.4_Missense_Mutation_p.S114Y|C16orf59_ENST00000563531.1_Missense_Mutation_p.S114Y			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	114										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ATTGTCACCTCTTCTGGCACG	0.617													False	0	False	16:2510961	0	A	2510961	C	A	2510961	3	1	88	1	0	0	0	0	1	0	0	0	1833	913	32	3	355	3	C16orf59	16	2510961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11585	2510961	87843792	15335	23047	247	2									
C16orf59	80178	broad.mit.edu	37	chr16	2510970	2510970	+	Missense_Mutation	SNP	C	C	T													cattgtcacctcttctggcaCgacagcctccgccccaccgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2510970C>T	ENST00000569496.1	+	4	409	c.350C>T	c.(349-351)aCg>aTg	p.T117M	C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000361837.4_Missense_Mutation_p.T117M|C16orf59_ENST00000563531.1_Missense_Mutation_p.T117M			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	117										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				TCTTCTGGCACGACAGCCTCC	0.617													False	0	False	16:2510970	0	T	2510970	C	T	2510970	3	4	88	1	0	0	0	0	1	0	0	0	1833	536	19	1	364	1	C16orf59	16	2510970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	2510970	87843783	15336	23048	247	2									
C16orf59	80178	broad.mit.edu	37	chr16	2511088	2511088	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggccaccctgagcgccgGctgctgtcagtgggggatgg	18	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2511088G>A	ENST00000483320.1	+	0	580				C16orf59_ENST00000569496.1_Silent_p.R156R|C16orf59_ENST00000361837.4_Silent_p.R156R|C16orf59_ENST00000563531.1_Silent_p.R156R			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59											lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CTGAGCGCCGGCTGCTGTCAG	0.697													False	0	False	16:2511088	0	A	2511088	G	A	2511088	1	1	88	1	0	0	0	0	0	0	0	0	1833	1190	42	2		2	C16orf59	16	2511088	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	2511088	87843665	15337	23049											
NTN3	4917	broad.mit.edu	37	chr16	2522417	2522417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccagggacatggaggccGtcgtcccttactcctacgca	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2522417G>A	ENST00000293973.1	+	1	918	c.715G>A	c.(715-717)Gtc>Atc	p.V239I		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	239	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CATGGAGGCCGTCGTCCCTTA	0.657													False	0	False	16:2522417	0	A	2522417	G	A	2522417	3	1	88	1	0	0	0	0	1	0	0	0	10769	1145	40	1	717	1	NTN3	16	2522417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11329	2522417	87832336	15338	23050											
NTN3	4917	broad.mit.edu	37	chr16	2522741	2522741	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgccgctgccgcttcaAcatggagctgtaccgactgt	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2522741A>C	ENST00000293973.1	+	2	1171	c.968A>C	c.(967-969)aAc>aCc	p.N323T		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	323	Laminin EGF-like 2.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TGCCGCTTCAACATGGAGCTG	0.697													False	0	False	16:2522741	0	C	2522741	A	C	2522741	3	2	88	1	0	0	0	0	1	0	0	0	10769	43	2	4	974	4	NTN3	16	2522741	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	324	2522741	87832012	15339	23051											
NTN3	4917	broad.mit.edu	37	chr16	2523431	2523431	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcccaccttctacccagaCtgtgactcgcactgcaaacc	5	19	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2523431C>A	ENST00000293973.1	+	5	1523	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	440					axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TCTACCCAGACTGTGACTCGC	0.622													False	0	False	16:2523431	0	A	2523431	C	A	2523431	5	1	88	1	0	0	0	0	0	0	1	0	10769	579	20	3	1338	3	NTN3	16	2523431	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	690	2523431	87831322	15340	23052											
TBC1D24	57465	broad.mit.edu	37	chr16	2546886	2546886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtaccgcgtggcgctggCcatcctcaagttcttccaca	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2546886C>T	ENST00000567020.1	+	2	877	c.737C>T	c.(736-738)gCc>gTc	p.A246V	TBC1D24_ENST00000293970.5_Missense_Mutation_p.A246V|TBC1D24_ENST00000434757.2_Missense_Mutation_p.A246V|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.A246V	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	246	Rab-GAP TBC.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GTGGCGCTGGCCATCCTCAAG	0.632													False	0	False	16:2546886	0	T	2546886	C	T	2546886	3	4	88	1	0	0	0	0	1	0	0	0	15696	739	26	2	739	2	TBC1D24	16	2546886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23455	2546886	87807867	15341	23053											
AMDHD2	51005	broad.mit.edu	37	chr16	2570854	2570854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtggccgacgagcggcgGgactgcgggggccgcatctt	19	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2570854G>A	ENST00000302956.4	+	2	262	c.168G>A	c.(166-168)cgG>cgA	p.R56R	ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000293971.6_Silent_p.R56R|AMDHD2_ENST00000413459.3_Silent_p.R56R			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	56					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						ACGAGCGGCGGGACTGCGGGG	0.697													False	0	True	16:2570854	0	A	2570854	G	A	2570854	2	1	88	1	0	0	0	0	0	0	0	1	568	1219	43	2		2	AMDHD2	16	2570854	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23968	2570854	87783899	15342	23054											
CEMP1	752014	broad.mit.edu	37	chr16	2580903	2580903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctctgccttgacggccgCgcaccccttaggaagtggct	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2580903C>T	ENST00000382350.1	-	1	517	c.172G>A	c.(172-174)Gcg>Acg	p.A58T	CEMP1_ENST00000567119.1_Missense_Mutation_p.A58T|AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000413459.3_3'UTR|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000565480.1_Intron			Q6PRD7	CEMP1_HUMAN	cementum protein 1	58						cytoplasm				lung(1)|skin(1)	2						TTGACGGCCGCGCACCCCTTA	0.662													False	0	False	16:2580903	0	T	2580903	C	T	2580903	3	4	88	1	0	0	0	0	1	0	0	0	3247	768	27	1	575	1	CEMP1	16	2580903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10049	2580903	87773850	15343	23055											
SRRM2	23524	broad.mit.edu	37	chr16	2812144	2812144	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctctaggtctcctcagCgaccaggctggtctaggagc	13	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2812144C>T	ENST00000301740.8	+	11	2164	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	539	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTCTCCTCAGCGACCAGGCTG	0.607													False	0	False	16:2812144	0	T	2812144	C	T	2812144	4	4	88	1	0	0	0	0	0	1	0	0	15251	760	27	1	1653	1	SRRM2	16	2812144	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231241	2812144	87542609	15344	23056											
SRRM2	23524	broad.mit.edu	37	chr16	2812267	2812267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgttctagaacaccagccCgccggggcaggtcccgctct	11	17	2	1	rs146283035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2812267C>T	ENST00000301740.8	+	11	2287	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	580	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AACACCAGCCCGCCGGGGCAG	0.612													False	0	True	16:2812267	0	T	2812267	C	T	2812267	3	4	88	1	0	0	0	0	1	0	0	0	15251	652	23	1	1776	1	SRRM2	16	2812267	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123	2812267	87542486	15345	23057											
SRRM2	23524	broad.mit.edu	37	chr16	2815936	2815936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacctctcggcgaagacagCggagccggtcaaggtcgcgg	15	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2815936C>T	ENST00000301740.8	+	11	5956	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1803	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCGAAGACAGCGGAGCCGGTC	0.602													False	0	False	16:2815936	0	T	2815936	C	T	2815936	3	4	88	1	0	0	0	0	1	0	0	0	15251	759	27	1	5445	1	SRRM2	16	2815936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3669	2815936	87538817	15346	23058											
SRRM2	23524	broad.mit.edu	37	chr16	2817777	2817777	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgtctgccccaagccaAtctaggatgacctctgaacg	8	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2817777A>C	ENST00000301740.8	+	11	7797	c.7248A>C	c.(7246-7248)caA>caC	p.Q2416H	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2416	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCCAAGCCAATCTAGGATGA	0.607													False	0	False	16:2817777	0	C	2817777	A	C	2817777	3	2	88	1	0	0	0	0	1	0	0	0	15251	98	4	4	7286	4	SRRM2	16	2817777	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1841	2817777	87536976	15347	23059											
TCEB2	6923	broad.mit.edu	37	chr16	2822078	2822078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgggctggaaaacggctcGatgcacagggcctcaaaggt	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2822078G>A	ENST00000572954.1	-	3	196	c.164C>T	c.(163-165)tCg>tTg	p.S55L	TCEB2_ENST00000409477.1_Silent_p.I85I|TCEB2_ENST00000262306.7_Silent_p.I90I|TCEB2_ENST00000409906.4_Silent_p.I90I			Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	0	Ubiquitin-like.				positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding	p.I90I(1)		endometrium(2)|prostate(1)	3						AAAACGGCTCGATGCACAGGG	0.612													False	0	False	16:2822078	0	A	2822078	G	A	2822078	3	1	88	1	0	0	0	0	1	0	0	0	15762	1048	37	1	227	1	TCEB2	16	2822078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4301	2822078	87532675	15348	23060											
PRSS21	10942	broad.mit.edu	37	chr16	2867430	2867430	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcacttcttgtctcccgcaGagtcgcaggaggcggcgccg	14	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2867430G>A	ENST00000455114.1	+	2	170		c.e2-1		PRSS21_ENST00000450020.3_Splice_Site|PRSS21_ENST00000005995.3_Splice_Site	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)						proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GTCTCCCGCAGAGTCGCAGGA	0.741													False	0	False	16:2867430	0	A	2867430	G	A	2867430	5	1	88	1	0	0	0	0	0	0	1	0	12694	956	33	2	70	2	PRSS21	16	2867430	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45352	2867430	87487323	15349	23061											
ZG16B	124220	broad.mit.edu	37	chr16	2880318	2880318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggcacaaccagacgcccaGtcacaggcgaggtaaggtgc	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2880318G>T	ENST00000382280.3	+	1	149	c.70G>T	c.(70-72)Gtc>Ttc	p.V24F		NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	24						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CAGACGCCCAGTCACAGGCGA	0.652													False	0	False	16:2880318	0	T	2880318	G	T	2880318	3	4	88	1	0	0	0	0	1	0	0	0	17755	1029	36	3	72	3	ZG16B	16	2880318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12888	2880318	87474435	15350	23062											
FLYWCH1	84256	broad.mit.edu	37	chr16	2983257	2983257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggacctgccgggaccacgCgctgcacggctgccggagcc	15	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2983257C>T	ENST00000399667.2	+	5	1286	c.923C>T	c.(922-924)gCg>gTg	p.A308V	FLYWCH1_ENST00000253928.9_Missense_Mutation_p.A308V|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.A307V			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	308						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CGGGACCACGCGCTGCACGGC	0.667													False	0	False	16:2983257	0	T	2983257	C	T	2983257	3	4	88	1	0	0	0	0	1	0	0	0	5987	768	27	1	930	1	FLYWCH1	16	2983257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102939	2983257	87371496	15351	23063											
PAQR4	124222	broad.mit.edu	37	chr16	3021795	3021795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactggtaaatgtagcccGtctgcccgagcgctggggac	16	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3021795G>A	ENST00000318782.8	+	3	1098	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000574988.1_Missense_Mutation_p.R156H|PAQR4_ENST00000293978.8_Missense_Mutation_p.R184H|PAQR4_ENST00000572687.1_Missense_Mutation_p.R149H|PAQR4_ENST00000576565.1_Missense_Mutation_p.R156H	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	223						integral to membrane	receptor activity	p.R223L(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						AATGTAGCCCGTCTGCCCGAG	0.672													False	0	True	16:3021795	0	A	3021795	G	A	3021795	3	1	88	1	0	0	0	0	1	0	0	0	11505	1145	40	1	678	1	PAQR4	16	3021795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38538	3021795	87332958	15352	23064											
PAQR4	124222	broad.mit.edu	37	chr16	3021850	3021850	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tactggggcaactcccaccaGatcatgcacctgctgagcgt	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3021850G>A	ENST00000318782.8	+	3	1153	c.723G>A	c.(721-723)caG>caA	p.Q241Q	PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000574988.1_Silent_p.Q174Q|PAQR4_ENST00000293978.8_Silent_p.Q202Q|PAQR4_ENST00000572687.1_Silent_p.Q167Q|PAQR4_ENST00000576565.1_Silent_p.Q174Q	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	241						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACTCCCACCAGATCATGCACC	0.677													False	0	False	16:3021850	0	A	3021850	G	A	3021850	2	1	88	1	0	0	0	0	0	0	0	1	11505	933	33	2		2	PAQR4	16	3021850	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55	3021850	87332903	15353	23065											
PKMYT1	9088	broad.mit.edu	37	chr16	3022958	3022958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcagagtctggggctcagGttgggtctagggtgtcctca	17	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3022958G>A	ENST00000262300.8	-	9	2004	c.1496C>T	c.(1495-1497)aCc>aTc	p.T499I	PAQR4_ENST00000318782.8_3'UTR|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_3'UTR|PAQR4_ENST00000572687.1_3'UTR|PKMYT1_ENST00000574730.1_Missense_Mutation_p.T430I|PKMYT1_ENST00000440027.2_3'UTR|PKMYT1_ENST00000574385.1_Missense_Mutation_p.T490I|PKMYT1_ENST00000573944.1_Missense_Mutation_p.T490I	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	499	Interaction with CDC2-CCNB1.|Interaction with PIN1.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGGGGCTCAGGTTGGGTCTAG	0.577													False	0	False	16:3022958	0	A	3022958	G	A	3022958	3	1	88	1	0	0	0	0	1	0	0	0	12047	1261	44	2	7	2	PKMYT1	16	3022958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1108	3022958	87331795	15354	23066											
PKMYT1	9088	broad.mit.edu	37	chr16	3026775	3026775	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccagggctctgcagagtctCtgaggcctcgccccggaatg	13	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3026775C>A	ENST00000431515.2	-	3	653	c.268G>T	c.(268-270)Gag>Tag	p.E90*	PKMYT1_ENST00000262300.8_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000574730.1_Nonsense_Mutation_p.E21*|PKMYT1_ENST00000440027.2_Nonsense_Mutation_p.E90*|PKMYT1_ENST00000574385.1_Nonsense_Mutation_p.E81*|PKMYT1_ENST00000573944.1_Nonsense_Mutation_p.E81*			Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	90					G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGCAGAGTCTCTGAGGCCTCG	0.667													False	0	False	16:3026775	0	A	3026775	C	A	3026775	4	1	88	1	0	0	0	0	0	1	0	0	12047	922	32	3	1297	3	PKMYT1	16	3026775	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3817	3026775	87327978	15355	23067											
CLDN9	9080	broad.mit.edu	37	chr16	3063599	3063599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccgcaggacctgcaggCcgcacgtgccctctgtgtca	12	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3063599C>T	ENST00000445369.2	+	1	1143	c.236C>T	c.(235-237)gCc>gTc	p.A79V		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	79					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GACCTGCAGGCCGCACGTGCC	0.647													False	0	False	16:3063599	0	T	3063599	C	T	3063599	3	4	88	1	0	0	0	0	1	0	0	0	3515	739	26	2	238	2	CLDN9	16	3063599	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36824	3063599	87291154	15356	23068											
TNFRSF12A	0	broad.mit.edu	37	chr16	3071282	3071282	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caagtgcatggactgcgcgtCttgcagggcgcgaccgcaca	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3071282C>T	ENST00000326577.4	+	2	247	c.161C>T	c.(160-162)tCt>tTt	p.S54F	TNFRSF12A_ENST00000575124.1_Intron|TNFRSF12A_ENST00000341627.5_Intron|TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.S5F	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	54					angiogenesis|apoptosis	integral to membrane	receptor activity			lung(1)|skin(1)	2						GACTGCGCGTCTTGCAGGGCG	0.736													False	0	False	16:3071282	0	T	3071282	C	T	3071282	3	4	88	1	0	0	0	0	1	0	0	0	16368	913	32	2	167	2	TNFRSF12A	16	3071282	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7683	3071282	87283471	15357	23069											
THOC6	79228	broad.mit.edu	37	chr16	3076711	3076711	+	Missense_Mutation	SNP	A	A	G													gggccacacagactacatccActgcctggcactgcgggaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3076711A>G	ENST00000326266.8	+	8	811	c.515A>G	c.(514-516)cAc>cGc	p.H172R	THOC6_ENST00000574549.1_Missense_Mutation_p.H148R|THOC6_ENST00000253952.9_Missense_Mutation_p.H172R|THOC6_ENST00000575576.1_Missense_Mutation_p.H148R	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	172					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GACTACATCCACTGCCTGGCA	0.607													False	0	False	16:3076711	0	G	3076711	A	G	3076711	3	3	88	1	0	0	0	0	1	0	0	0	15951	159	6	4	545	4	THOC6	16	3076711	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5429	3076711	87278042	15358	23070	248	2									
THOC6	79228	broad.mit.edu	37	chr16	3076719	3076719	+	Missense_Mutation	SNP	G	G	A													cagactacatccactgcctgGcactgcgggaaaggagccca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3076719G>A	ENST00000326266.8	+	8	819	c.523G>A	c.(523-525)Gca>Aca	p.A175T	THOC6_ENST00000574549.1_Missense_Mutation_p.A151T|THOC6_ENST00000253952.9_Missense_Mutation_p.A175T|THOC6_ENST00000575576.1_Missense_Mutation_p.A151T	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	175					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CCACTGCCTGGCACTGCGGGA	0.607													False	0	False	16:3076719	0	A	3076719	G	A	3076719	3	1	88	1	0	0	0	0	1	0	0	0	15951	1203	42	2	553	2	THOC6	16	3076719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	3076719	87278034	15359	23071	248	2									
CCDC64B	146439	broad.mit.edu	37	chr16	3078764	3078764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccccagggtcttcctgcGcccgcagctccttctgcctc	8	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3078764G>A	ENST00000573514.1	-	6	2744	c.554C>T	c.(553-555)gCg>gTg	p.A185V	CCDC64B_ENST00000389347.4_Missense_Mutation_p.A392V|CCDC64B_ENST00000572449.1_Missense_Mutation_p.A392V			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	392										breast(1)|endometrium(2)|large_intestine(1)	4						GTCTTCCTGCGCCCGCAGCTC	0.667													False	0	True	16:3078764	0	A	3078764	G	A	3078764	3	1	88	1	0	0	0	0	1	0	0	0	2857	1087	38	1	363	1	CCDC64B	16	3078764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2045	3078764	87275989	15360	23072											
MMP25	64386	broad.mit.edu	37	chr16	3100403	3100403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagcccgacatcctcatcGactttgcccgcgccttccac	8	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3100403G>A	ENST00000336577.4	+	4	754	c.517G>A	c.(517-519)Gac>Aac	p.D173N	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	173					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CATCCTCATCGACTTTGCCCG	0.642													False	0	False	16:3100403	0	A	3100403	G	A	3100403	3	1	88	1	0	0	0	0	1	0	0	0	9729	1058	37	1	531	1	MMP25	16	3100403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21639	3100403	87254350	15361	23073											
IL32	9235	broad.mit.edu	37	chr16	3117423	3117423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggcccgaatggtaatgCtcctccctacttctgctcag	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3117423C>T	ENST00000534507.1	+	3	272	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	IL32_ENST00000533097.2_Intron|IL32_ENST00000528163.2_Intron|IL32_ENST00000325568.5_Intron|IL32_ENST00000526464.2_Intron|IL32_ENST00000525643.2_Intron|IL32_ENST00000008180.9_Intron|IL32_ENST00000552936.1_Intron|IL32_ENST00000548476.1_Missense_Mutation_p.L21F|IL32_ENST00000530538.2_Intron|IL32_ENST00000396887.3_Intron|IL32_ENST00000551513.1_Missense_Mutation_p.L21F|IL32_ENST00000529550.1_Intron|IL32_ENST00000529699.1_Intron|IL32_ENST00000552664.1_Intron|IL32_ENST00000551122.1_Intron|IL32_ENST00000549213.1_Intron|IL32_ENST00000396890.2_Missense_Mutation_p.L21F|IL32_ENST00000444393.3_Intron|IL32_ENST00000382213.3_Intron|IL32_ENST00000548246.1_Intron|IL32_ENST00000552356.1_Intron|IL32_ENST00000440815.3_Intron|IL32_ENST00000531965.1_Intron|IL32_ENST00000530890.1_Intron|IL32_ENST00000548652.1_Intron			P24001	IL32_HUMAN	interleukin 32	21					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						AATGGTAATGCTCCTCCCTAC	0.567													False	0	False	16:3117423	0	T	3117423	C	T	3117423	3	4	88	1	0	0	0	0	1	0	0	0	7742	812	28	2		2	IL32	16	3117423	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17020	3117423	87237330	15362	23074											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139531	3139531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccgcactcgctgcagCggcagggcttctcgcccgtg	12	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3139531C>T	ENST00000252463.2	-	5	1826	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R241H|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R498H	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	580					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CTCGCTGCAGCGGCAGGGCTT	0.721													False	0	False	16:3139531	0	T	3139531	C	T	3139531	3	4	88	1	0	0	0	0	1	0	0	0	18309	768	27	1	442	1	ZSCAN10	16	3139531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22108	3139531	87215222	15363	23075											
ZSCAN10	84891	broad.mit.edu	37	chr16	3142764	3142764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccggctcagggacgcccGtggccccatgtcctcctgat	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3142764G>A	ENST00000252463.2	-	1	97	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	ZSCAN10_ENST00000575108.1_Intron|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.T11M|ZSCAN10_ENST00000572548.1_Missense_Mutation_p.R4W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	4	SCAN box.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AGGGACGCCCGTGGCCCCATG	0.657													False	0	True	16:3142764	0	A	3142764	G	A	3142764	3	1	88	1	0	0	0	0	1	0	0	0	18309	1144	40	1	2187	1	ZSCAN10	16	3142764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3233	3142764	87211989	15364	23076											
ZNF205	7755	broad.mit.edu	37	chr16	3170128	3170128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcttcagccacagctcGcacctcaccgcgcaccagcg	9	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3170128G>A	ENST00000382192.3	+	7	1672	c.1467G>A	c.(1465-1467)tcG>tcA	p.S489S	RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Silent_p.S489S	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GCCACAGCTCGCACCTCACCG	0.677													False	0	False	16:3170128	0	A	3170128	G	A	3170128	2	1	88	1	0	0	0	0	0	0	0	1	17847	1074	38	1		1	ZNF205	16	3170128	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27364	3170128	87184625	15365	23077											
ZNF213	7760	broad.mit.edu	37	chr16	3187397	3187397	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagcatgaggatggcaGggattccgaagcctgccgcc	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3187397G>T	ENST00000396878.3	+	2	591	c.116G>T	c.(115-117)aGg>aTg	p.R39M	ZNF213_ENST00000574902.1_Missense_Mutation_p.R39M|ZNF213_ENST00000576416.1_Missense_Mutation_p.R39M	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	39					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GAGGATGGCAGGGATTCCGAA	0.622													False	0	True	16:3187397	0	T	3187397	G	T	3187397	3	4	88	1	0	0	0	0	1	0	0	0	17852	1000	35	3	118	3	ZNF213	16	3187397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17269	3187397	87167356	15366	23078											
ZNF213	7760	broad.mit.edu	37	chr16	3191230	3191230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgctggaccatcggcGtgtgcacaccggtgagcggc	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3191230G>A	ENST00000396878.3	+	6	1737	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H	ZNF213_ENST00000574902.1_Missense_Mutation_p.R421H|ZNF213_ENST00000416391.2_Missense_Mutation_p.R263H|ZNF213_ENST00000576416.1_Missense_Mutation_p.R421H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	421					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GACCATCGGCGTGTGCACACC	0.657													False	0	False	16:3191230	0	A	3191230	G	A	3191230	3	1	88	1	0	0	0	0	1	0	0	0	17852	1145	40	1	1280	1	ZNF213	16	3191230	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3833	3191230	87163523	15367	23079											
MEFV	4210	broad.mit.edu	37	chr16	3293600	3293600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctttgcgggccatcaggCagcctctcccacttgtttcc	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3293600C>T	ENST00000219596.1	-	10	1926	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	MEFV_ENST00000339854.4_Silent_p.L449L|MEFV_ENST00000536379.1_Silent_p.L418L|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	629	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGCCATCAGGCAGCCTCTCCC	0.502													False	0	False	16:3293600	0	T	3293600	C	T	3293600	2	4	88	1	0	0	0	0	0	0	0	1	9526	697	25	2		2	MEFV	16	3293600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102370	3293600	87061153	15368	23080											
ZNF263	10127	broad.mit.edu	37	chr16	3333885	3333885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagctggaggaggactgcGcctggagccaggagctgccc	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3333885G>A	ENST00000219069.5	+	1	943	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	ZNF263_ENST00000573578.1_Missense_Mutation_p.A23T|ZNF263_ENST00000574253.1_Missense_Mutation_p.A23T|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	23					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGAGGACTGCGCCTGGAGCCA	0.677													False	0	False	16:3333885	0	A	3333885	G	A	3333885	3	1	88	1	0	0	0	0	1	0	0	0	17886	1087	38	1	69	1	ZNF263	16	3333885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40285	3333885	87020868	15369	23081											
ZNF263	10127	broad.mit.edu	37	chr16	3338556	3338556	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaggagggcctgagccccaGaggcccagctccaggtaagg	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3338556G>T	ENST00000219069.5	+	5	1748	c.872G>T	c.(871-873)aGa>aTa	p.R291I	ZNF263_ENST00000574253.1_Intron|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	291					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CTGAGCCCCAGAGGCCCAGCT	0.547													False	0	False	16:3338556	0	T	3338556	G	T	3338556	3	4	88	1	0	0	0	0	1	0	0	0	17886	942	33	3	890	3	ZNF263	16	3338556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4671	3338556	87016197	15370	23082											
OR2C1	4993	broad.mit.edu	37	chr16	3406685	3406685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcccatctgctggtggtgTtcctcttctatggctcagcc	9	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3406685T>C	ENST00000304936.2	+	1	797	c.745T>C	c.(745-747)Ttc>Ctc	p.F249L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCTGGTGGTGTTCCTCTTCTA	0.542													False	0	False	16:3406685	0	C	3406685	T	C	3406685	3	2	88	1	0	0	0	0	1	0	0	0	11060	1725	60	4	747	4	OR2C1	16	3406685	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	68129	3406685	86948068	15371	23083											
C16orf90	646174	broad.mit.edu	37	chr16	3544819	3544819	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaccccaggcccccctcGtagatgttggggggtgcgtc	17	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3544819G>A	ENST00000437192.3	-	2	107	c.105C>T	c.(103-105)taC>taT	p.Y35Y	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	25										large_intestine(1)	1						GGCCCCCCTCGTAGATGTTGG	0.716													False	0	False	16:3544819	0	A	3544819	G	A	3544819	2	1	88	1	0	0	0	0	0	0	0	1	1853	1140	40	1		1	C16orf90	16	3544819	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138134	3544819	86809934	15372	23084											
CLUAP1	23059	broad.mit.edu	37	chr16	3569998	3569998	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagagaaaattagaactggaAagaaatcggaagcgactaga	11	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3569998A>G	ENST00000571025.1	+	7	725	c.675A>G	c.(673-675)gaA>gaG	p.E225E	CLUAP1_ENST00000572600.1_Silent_p.E59E|CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000341633.5_Silent_p.E225E|CLUAP1_ENST00000576634.1_Silent_p.E225E|CLUAP1_ENST00000417763.2_Silent_p.E59E			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	225						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						TAGAACTGGAAAGAAATCGGA	0.403													False	0	True	16:3569998	0	G	3569998	A	G	3569998	2	3	88	1	0	0	0	0	0	0	0	1	3592	11	1	4		4	CLUAP1	16	3569998	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25179	3569998	86784755	15373	23085											
NLRC3	197358	broad.mit.edu	37	chr16	3613437	3613437	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctctgcctgcatggcccGctgggctgcgctcctgaaat	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3613437G>A	ENST00000301749.7	-	0	1906				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCATGGCCCGCTGGGCTGCG	0.657													False	0	True	16:3613437	0	A	3613437	G	A	3613437	1	1	88	0	1	0	0	0	0	0	0	0	10536	1086	38	1		1	NLRC3	16	3613437	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43439	3613437	86741316	15374	23086											
NLRC3	197358	broad.mit.edu	37	chr16	3614177	3614177	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccggaaagaggttgccaCggatgatgttggtgatcagg	15	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3614177C>T	ENST00000301749.7	-	0	1166				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGTTGCCACGGATGATGTT	0.602													False	0	False	16:3614177	0	T	3614177	C	T	3614177	1	4	88	0	1	0	0	0	0	0	0	0	10536	536	19	1		1	NLRC3	16	3614177	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	740	3614177	86740576	15375	23087											
NLRC3	197358	broad.mit.edu	37	chr16	3614447	3614447	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtccttgccgacctgcccaTgggcccagaggcggacgaag	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3614447T>C	ENST00000301749.7	-	0	896				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACCTGCCCATGGGCCCAGAG	0.652													False	0	True	16:3614447	0	C	3614447	T	C	3614447	1	2	88	0	1	0	0	0	0	0	0	0	10536	1464	51	4		4	NLRC3	16	3614447	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	270	3614447	86740306	15376	23088											
TRAP1	10131	broad.mit.edu	37	chr16	3713514	3713514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcttcttgtcaaactcaCgaaggtgcagcagggtgagc	12	10	4	1	rs141361125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3713514C>T	ENST00000575671.1	-	9	1721	c.992G>A	c.(991-993)cGt>cAt	p.R331H	TRAP1_ENST00000538171.1_Missense_Mutation_p.R487H|TRAP1_ENST00000246957.5_Missense_Mutation_p.R540H|DNASE1_ENST00000414110.2_3'UTR|DNASE1_ENST00000575152.1_3'UTR			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	540					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GTCAAACTCACGAAGGTGCAG	0.567													False	0	False	16:3713514	0	T	3713514	C	T	3713514	3	4	88	1	0	0	0	0	1	0	0	0	16538	536	19	1	515	1	TRAP1	16	3713514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99067	3713514	86641239	15377	23089											
TRAP1	10131	broad.mit.edu	37	chr16	3724437	3724437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgagcctgcgcgacgtagCggtagaactcctcatgttgc	13	12	1	2	rs151069865		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3724437C>T	ENST00000575671.1	-	4	1049	c.320G>A	c.(319-321)cGc>cAc	p.R107H	TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000538171.1_Missense_Mutation_p.R263H|TRAP1_ENST00000246957.5_Missense_Mutation_p.R316H			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	316					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CGCGACGTAGCGGTAGAACTC	0.607													False	0	False	16:3724437	0	T	3724437	C	T	3724437	3	4	88	1	0	0	0	0	1	0	0	0	16538	768	27	1	1207	1	TRAP1	16	3724437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10923	3724437	86630316	15378	23090											
TRAP1	10131	broad.mit.edu	37	chr16	3740954	3740954	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgcctggggcccaactgggCtgtggtcctccgaggacaca	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3740954C>A	ENST00000246957.5	-	2	209	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	TRAP1_ENST00000538171.1_Intron	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	41					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CCCAACTGGGCTGTGGTCCTC	0.527											OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	16:3740954	0	A	3740954	C	A	3740954	3	1	88	1	0	0	0	0	1	0	0	0	16538	797	28	3	2061	3	TRAP1	16	3740954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16517	3740954	86613799	15379	23091											
CREBBP	1387	broad.mit.edu	37	chr16	3778862	3778862	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttgcagagcgctgggtgaGatgctcctgggtggctgcac	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3778862G>A	ENST00000262367.5	-	31	6995	c.6186C>T	c.(6184-6186)atC>atT	p.I2062I	CREBBP_ENST00000382070.3_Silent_p.I2024I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2062					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGCTGGGTGAGATGCTCCTGG	0.652			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						False	0	False	16:3778862	0	A	3778862	G	A	3778862	2	1	88	1	0	0	0	0	0	0	0	1	3884	932	33	2		2	CREBBP	16	3778862	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37908	3778862	86575891	15380	23092											
CREBBP	1387	broad.mit.edu	37	chr16	3807335	3807335	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgcgaggaatggtacacaGctgcttcccatagcagcaca	10	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3807335G>T	ENST00000262367.5	-	19	4461	c.3652C>A	c.(3652-3654)Ctg>Atg	p.L1218M	CREBBP_ENST00000382070.3_Missense_Mutation_p.L1180M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1218	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATGGTACACAGCTGCTTCCCA	0.413			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						False	0	False	16:3807335	0	T	3807335	G	T	3807335	3	4	88	1	0	0	0	0	1	0	0	0	3884	962	34	3	3728	3	CREBBP	16	3807335	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28473	3807335	86547418	15381	23093											
ADCY9	115	broad.mit.edu	37	chr16	4029235	4029235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgatccactccagcaggCgcttggtgcaggccatgacg	14	14	0	1	rs142198070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4029235C>T	ENST00000294016.3	-	8	3099	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	854					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCCAGCAGGCGCTTGGTGCA	0.662													False	0	False	16:4029235	0	T	4029235	C	T	4029235	3	4	88	1	0	0	0	0	1	0	0	0	301	768	27	1	1516	1	ADCY9	16	4029235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221900	4029235	86325518	15382	23094											
ADCY9	115	broad.mit.edu	37	chr16	4163832	4163832	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtaccggtcatctaagtAttttgcggtggcctcagaaa	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4163832A>G	ENST00000294016.3	-	2	2150	c.1612T>C	c.(1612-1614)Tac>Cac	p.Y538H		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	538					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCATCTAAGTATTTTGCGGTG	0.498													False	0	True	16:4163832	0	G	4163832	A	G	4163832	3	3	88	1	0	0	0	0	1	0	0	0	301	449	16	4	2489	4	ADCY9	16	4163832	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	134597	4163832	86190921	15383	23095											
ADCY9	115	broad.mit.edu	37	chr16	4164631	4164631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggccccggctccgggCgaggggaagcaggcttcatc	17	13	1	0	rs148841917	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4164631C>T	ENST00000294016.3	-	2	1351	c.813G>A	c.(811-813)tcG>tcA	p.S271S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	271					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCTCCGGGCGAGGGGAAGC	0.617													False	0	True	16:4164631	0	T	4164631	C	T	4164631	2	4	88	1	0	0	0	0	0	0	0	1	301	755	27	1		1	ADCY9	16	4164631	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	799	4164631	86190122	15384	23096											
GLIS2	84662	broad.mit.edu	37	chr16	4382440	4382440	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccacacctggctctccaggCtccccgccctcaggtactgg	9	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4382440C>G	ENST00000262366.3	+	3	980	c.159C>G	c.(157-159)ggC>ggG	p.G53G	GLIS2_ENST00000433375.1_Silent_p.G53G|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	53	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCTCTCCAGGCTCCCCGCCCT	0.652													False	0	False	16:4382440	0	G	4382440	C	G	4382440	2	3	88	1	0	0	0	0	0	0	0	1	6491	784	28	5		5	GLIS2	16	4382440	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	217809	4382440	85972313	15385	23097											
GLIS2	84662	broad.mit.edu	37	chr16	4383390	4383390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgagaaggtggagggacGcttttcagcagcccctctcg	13	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4383390G>A	ENST00000262366.3	+	4	1036	c.215G>A	c.(214-216)cGc>cAc	p.R72H	GLIS2_ENST00000433375.1_Missense_Mutation_p.R72H|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	72	Interaction with CTNND1 (By similarity).|Transcription activation (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTGGAGGGACGCTTTTCAGCA	0.632													False	0	False	16:4383390	0	A	4383390	G	A	4383390	3	1	88	1	0	0	0	0	1	0	0	0	6491	1087	38	1	221	1	GLIS2	16	4383390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	950	4383390	85971363	15386	23098											
GLIS2	84662	broad.mit.edu	37	chr16	4386911	4386911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggcccatggccactttGtgtcccacgagcagcaagag	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4386911G>A	ENST00000262366.3	+	8	1782	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	GLIS2_ENST00000433375.1_Missense_Mutation_p.V321M|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	321					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGGCCACTTTGTGTCCCACGA	0.652													False	0	True	16:4386911	0	A	4386911	G	A	4386911	3	1	88	1	0	0	0	0	1	0	0	0	6491	1377	48	2	983	2	GLIS2	16	4386911	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3521	4386911	85967842	15387	23099											
CORO7	79585	broad.mit.edu	37	chr16	4409543	4409543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcagggttgagggagCcacgtccaggcccaacactg	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4409543C>T	ENST00000251166.4	-	22	2333	c.2188G>A	c.(2188-2190)Gct>Act	p.A730T	CORO7_ENST00000537233.2_Missense_Mutation_p.A712T|CORO7_ENST00000574025.1_Missense_Mutation_p.A645T|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.A730T|CORO7_ENST00000539968.1_Missense_Mutation_p.A510T	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTTGAGGGAGCCACGTCCAGG	0.667											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	16:4409543	0	T	4409543	C	T	4409543	3	4	88	1	0	0	0	0	1	0	0	0	3782	739	26	2	617	2	CORO7	16	4409543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22632	4409543	85945210	15388	23100											
DNAJA3	9093	broad.mit.edu	37	chr16	4491569	4491569	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagaccgtgtttgatcagcCtcaggaagtaagttcctcac	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4491569C>A	ENST00000262375.6	+	4	700	c.623C>A	c.(622-624)cCt>cAt	p.P208H	DNAJA3_ENST00000355296.4_Missense_Mutation_p.P208H|DNAJA3_ENST00000431375.2_Missense_Mutation_p.P55H	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	208					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TTTGATCAGCCTCAGGAAGTA	0.428													False	0	False	16:4491569	0	A	4491569	C	A	4491569	3	1	88	1	0	0	0	0	1	0	0	0	4643	681	24	3	637	3	DNAJA3	16	4491569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82026	4491569	85863184	15389	23101											
MGRN1	0	broad.mit.edu	37	chr16	4732890	4732890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctctccgaggacgtggaCgcccctcccccactgggtgg	13	16	1	0	rs61734738		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4732890C>T	ENST00000399577.5	+	14	1518	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	MGRN1_ENST00000262370.7_Silent_p.D475D|MGRN1_ENST00000588994.1_Silent_p.D453D|MGRN1_ENST00000586183.1_Silent_p.D453D|MGRN1_ENST00000415496.1_Silent_p.D454D	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	475					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AGGACGTGGACGCCCCTCCCC	0.701													False	0	False	16:4732890	0	T	4732890	C	T	4732890	2	4	88	1	0	0	0	0	0	0	0	1	9626	535	19	1		1	MGRN1	16	4732890	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241321	4732890	85621863	15390	23102											
ANKS3	124401	broad.mit.edu	37	chr16	4755101	4755101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcgggccactcaccatagCgaggccgtggggctctgccg	15	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4755101C>T	ENST00000304283.4	-	8	1157	c.863G>A	c.(862-864)cGc>cAc	p.R288H	ANKS3_ENST00000450067.2_Missense_Mutation_p.R82H|ANKS3_ENST00000446014.2_Missense_Mutation_p.R159H|ANKS3_ENST00000585773.1_Missense_Mutation_p.R215H	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	288										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CTCACCATAGCGAGGCCGTGG	0.597													False	0	False	16:4755101	0	T	4755101	C	T	4755101	3	4	88	1	0	0	0	0	1	0	0	0	690	768	27	1	1147	1	ANKS3	16	4755101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22211	4755101	85599652	15391	23103											
ANKS3	124401	broad.mit.edu	37	chr16	4764060	4764060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtgggtacctgggctcCgatagaggctcttgggcaga	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4764060C>T	ENST00000304283.4	-	7	995	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	ANKS3_ENST00000450067.2_Missense_Mutation_p.R28Q|ANKS3_ENST00000446014.2_Missense_Mutation_p.R105Q|ANKS3_ENST00000585773.1_Missense_Mutation_p.R161Q	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	234										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ACCTGGGCTCCGATAGAGGCT	0.617													False	0	False	16:4764060	0	T	4764060	C	T	4764060	3	4	88	1	0	0	0	0	1	0	0	0	690	652	23	1	1313	1	ANKS3	16	4764060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8959	4764060	85590693	15392	23104											
ANKS3	124401	broad.mit.edu	37	chr16	4774778	4774778	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaaaatactgcacgattatCtcatggccagcagcagctgc	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4774778C>A	ENST00000304283.4	-	6	840	c.546G>T	c.(544-546)gaG>gaT	p.E182D	ANKS3_ENST00000450067.2_Intron|ANKS3_ENST00000446014.2_Missense_Mutation_p.E53D|ANKS3_ENST00000592711.1_Missense_Mutation_p.E75D|ANKS3_ENST00000585773.1_Missense_Mutation_p.E109D	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	182										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCACGATTATCTCATGGCCAG	0.438													False	0	False	16:4774778	0	A	4774778	C	A	4774778	3	1	88	1	0	0	0	0	1	0	0	0	690	912	32	3	1472	3	ANKS3	16	4774778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10718	4774778	85579975	15393	23105											
ANKS3	124401	broad.mit.edu	37	chr16	4780014	4780014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcaccacttcatactggCcaatggaagcagctgtgtga	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4780014C>T	ENST00000304283.4	-	3	431	c.137G>A	c.(136-138)gGc>gAc	p.G46D	ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000446014.2_5'UTR|ANKS3_ENST00000592711.1_Missense_Mutation_p.G46D|ANKS3_ENST00000585773.1_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	46										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TTCATACTGGCCAATGGAAGC	0.577													False	0	False	16:4780014	0	T	4780014	C	T	4780014	3	4	88	1	0	0	0	0	1	0	0	0	690	739	26	2	1893	2	ANKS3	16	4780014	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5236	4780014	85574739	15394	23106											
C16orf71	146562	broad.mit.edu	37	chr16	4786573	4786573	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctccctgggcctcccagAtggggccctgggatgccatc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4786573A>C	ENST00000299320.5	+	2	536	c.58A>C	c.(58-60)Atg>Ctg	p.M20L	C16orf71_ENST00000590191.1_Missense_Mutation_p.M20L|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	20										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGCCTCCCAGATGGGGCCCTG	0.592													False	0	False	16:4786573	0	C	4786573	A	C	4786573	3	2	88	1	0	0	0	0	1	0	0	0	1840	333	12	4	60	4	C16orf71	16	4786573	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6559	4786573	85568180	15395	23107											
C16orf71	146562	broad.mit.edu	37	chr16	4790160	4790160	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgttttcttgacagccagttCtggtgcctgcagaattggcc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4790160C>T	ENST00000299320.5	+	4	761	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	C16orf71_ENST00000590191.1_Silent_p.L109L|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	95										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						ACAGCCAGTTCTGGTGCCTGC	0.423													False	0	False	16:4790160	0	T	4790160	C	T	4790160	2	4	88	1	0	0	0	0	0	0	0	1	1840	912	32	2		2	C16orf71	16	4790160	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3587	4790160	85564593	15396	23108											
ZNF500	26048	broad.mit.edu	37	chr16	4815977	4815977	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggccagggacagtggcCattgcttccggtgggccttg	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4815977C>T	ENST00000219478.6	-	2	302	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF500_ENST00000545009.1_Start_Codon_SNP_p.M1I			O60304	ZN500_HUMAN	zinc finger protein 500	1					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGACAGTGGCCATTGCTTCCG	0.547													False	0	False	16:4815977	0	T	4815977	C	T	4815977	1	4	88	1	0	0	0	0	0	0	0	0	18031	594	21	2		2	ZNF500	16	4815977	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25817	4815977	85538776	15397	23109											
UBN1	29855	broad.mit.edu	37	chr16	4902975	4902975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggttccctgaatcctgcGtttttgaagaagtcccggaa	10	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4902975G>A	ENST00000396658.4	+	1	760	c.57G>A	c.(55-57)gcG>gcA	p.A19A	UBN1_ENST00000545171.1_Silent_p.A19A|UBN1_ENST00000590769.1_Silent_p.A19A|UBN1_ENST00000262376.6_Silent_p.A19A	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	19	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGAATCCTGCGTTTTTGAAGA	0.567													False	0	True	16:4902975	0	A	4902975	G	A	4902975	2	1	88	1	0	0	0	0	0	0	0	1	16976	1132	40	1		1	UBN1	16	4902975	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86998	4902975	85451778	15398	23110											
UBN1	29855	broad.mit.edu	37	chr16	4927465	4927465	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgcccacccatatcccgcaGagtctgccaggtaatcaccc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4927465G>A	ENST00000396658.4	+	16	4048	c.3345G>A	c.(3343-3345)caG>caA	p.Q1115Q	UBN1_ENST00000545171.1_Intron|UBN1_ENST00000590769.1_Intron|UBN1_ENST00000262376.6_Silent_p.Q1115Q	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1115					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATATCCCGCAGAGTCTGCCAG	0.642													False	0	False	16:4927465	0	A	4927465	G	A	4927465	2	1	88	1	0	0	0	0	0	0	0	1	16976	933	33	2		2	UBN1	16	4927465	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24490	4927465	85427288	15399	23111											
PPL	5493	broad.mit.edu	37	chr16	4934369	4934369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcttcttcctgctccagCgctgccagccgctgctgcaa	9	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4934369C>T	ENST00000345988.2	-	22	4376	c.4287G>A	c.(4285-4287)gcG>gcA	p.A1429A	PPL_ENST00000590782.2_Silent_p.A1427A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1429					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCTGCTCCAGCGCTGCCAGCC	0.687													False	0	False	16:4934369	0	T	4934369	C	T	4934369	2	4	88	1	0	0	0	0	0	0	0	1	12408	755	27	1		1	PPL	16	4934369	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6904	4934369	85420384	15400	23112											
PPL	5493	broad.mit.edu	37	chr16	4934822	4934822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggtttggtgtctttcagGgcctggatttcctttttcag	13	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4934822G>A	ENST00000345988.2	-	22	3923	c.3834C>T	c.(3832-3834)gcC>gcT	p.A1278A	PPL_ENST00000590782.2_Silent_p.A1276A	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1278					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGTCTTTCAGGGCCTGGATTT	0.522													False	0	True	16:4934822	0	A	4934822	G	A	4934822	2	1	88	1	0	0	0	0	0	0	0	1	12408	1219	43	2		2	PPL	16	4934822	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453	4934822	85419931	15401	23113											
PPL	5493	broad.mit.edu	37	chr16	4938987	4938987	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccggctcacctttacagCttgctggtactgctgggaat	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4938987C>A	ENST00000345988.2	-	19	2478	c.2389G>T	c.(2389-2391)Gct>Tct	p.A797S	PPL_ENST00000590782.2_Missense_Mutation_p.A795S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	797					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACCTTTACAGCTTGCTGGTAC	0.512													False	0	False	16:4938987	0	A	4938987	C	A	4938987	3	1	88	1	0	0	0	0	1	0	0	0	12408	797	28	3	2897	3	PPL	16	4938987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4165	4938987	85415766	15402	23114											
PPL	5493	broad.mit.edu	37	chr16	4945601	4945601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccatcgctcacatccagCtcccgcagcagcagctcaat	9	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4945601C>T	ENST00000345988.2	-	10	1178	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	PPL_ENST00000590782.2_Silent_p.E361E	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	363					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCACATCCAGCTCCCGCAGCA	0.657													False	0	False	16:4945601	0	T	4945601	C	T	4945601	2	4	88	1	0	0	0	0	0	0	0	1	12408	796	28	2		2	PPL	16	4945601	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6614	4945601	85409152	15403	23115											
SEC14L5	9717	broad.mit.edu	37	chr16	5041991	5041991	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggcccacgggccccgTagcaccctggggcccgctct	14	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5041991T>C	ENST00000251170.7	+	6	807	c.627T>C	c.(625-627)cgT>cgC	p.R209R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	209						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACGGGCCCCGTAGCACCCTGG	0.697													False	0	False	16:5041991	0	C	5041991	T	C	5041991	2	2	88	1	0	0	0	0	0	0	0	1	14066	1625	57	4		4	SEC14L5	16	5041991	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96390	5041991	85312762	15404	23116											
SEC14L5	9717	broad.mit.edu	37	chr16	5053443	5053443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggagggactcaacatgCggcacctgtggcggccgggg	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5053443C>T	ENST00000251170.7	+	11	1351	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	391	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACTCAACATGCGGCACCTGTG	0.637													False	0	False	16:5053443	0	T	5053443	C	T	5053443	3	4	88	1	0	0	0	0	1	0	0	0	14066	759	27	1	1209	1	SEC14L5	16	5053443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11452	5053443	85301310	15405	23117											
NAGPA	51172	broad.mit.edu	37	chr16	5083700	5083700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgcgcgcgcgtggatagGgcagtagcaagtcgtcgtcg	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5083700G>A	ENST00000312251.3	-	2	135	c.116C>T	c.(115-117)cCc>cTc	p.P39L	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Missense_Mutation_p.P39L	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	39					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCGTGGATAGGGCAGTAGCAA	0.761													False	0	True	16:5083700	0	A	5083700	G	A	5083700	3	1	88	1	0	0	0	0	1	0	0	0	10211	1232	43	2	1467	2	NAGPA	16	5083700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30257	5083700	85271053	15406	23118											
ABAT	18	broad.mit.edu	37	chr16	8829607	8829607	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggggtcatggcctccaTgttgctcgcccagcgcctgg	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8829607T>G	ENST00000396600.2	+	2	949	c.11T>G	c.(10-12)aTg>aGg	p.M4R	ABAT_ENST00000569156.1_Missense_Mutation_p.M4R|ABAT_ENST00000567812.1_Missense_Mutation_p.M19R|ABAT_ENST00000268251.8_Missense_Mutation_p.M4R|ABAT_ENST00000425191.2_Missense_Mutation_p.M4R	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	4					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ATGGCCTCCATGTTGCTCGCC	0.587													False	0	False	16:8829607	0	G	8829607	T	G	8829607	3	3	88	1	0	0	0	0	1	0	0	0	27	1464	51	4	13	4	ABAT	16	8829607	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3745907	8829607	81525146	15407	23119											
ABAT	18	broad.mit.edu	37	chr16	8844347	8844347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattacctggttgatgtggaCggcaaccgaatgctggatct	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8844347C>T	ENST00000396600.2	+	5	1205	c.267C>T	c.(265-267)gaC>gaT	p.D89D	ABAT_ENST00000569156.1_Silent_p.D89D|ABAT_ENST00000567812.1_Silent_p.D104D|ABAT_ENST00000268251.8_Silent_p.D89D|ABAT_ENST00000425191.2_Silent_p.D89D	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	89					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TTGATGTGGACGGCAACCGAA	0.468													False	0	False	16:8844347	0	T	8844347	C	T	8844347	2	4	88	1	0	0	0	0	0	0	0	1	27	535	19	1		1	ABAT	16	8844347	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14740	8844347	81510406	15408	23120											
TMEM186	25880	broad.mit.edu	37	chr16	8890416	8890416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcccacacagcttttcccCgaaacctacgcacagctcgg	6	17	0	0	rs147051924		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8890416C>T	ENST00000333050.6	-	2	68	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	12						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						AGCTTTTCCCCGAAACCTACG	0.552													False	0	True	16:8890416	0	T	8890416	C	T	8890416	3	4	88	1	0	0	0	0	1	0	0	0	16190	652	23	1	610	1	TMEM186	16	8890416	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46069	8890416	81464337	15409	23121											
PMM2	5373	broad.mit.edu	37	chr16	8900240	8900240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactgtctgagctacattgCgaaaattaaactcccgaaga	7	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8900240C>T	ENST00000268261.4	+	4	389	c.323C>T	c.(322-324)gCg>gTg	p.A108V	PMM2_ENST00000539622.1_Missense_Mutation_p.A25V|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000569958.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.A81V	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	108			A -> V (in CDG1A).		dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						AGCTACATTGCGAAAATTAAA	0.408													False	0	False	16:8900240	0	T	8900240	C	T	8900240	3	4	88	1	0	0	0	0	1	0	0	0	12206	768	27	1	337	1	PMM2	16	8900240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9824	8900240	81454513	15410	23122											
CARHSP1	23589	broad.mit.edu	37	chr16	8953039	8953039	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagactcacgccgagaaggtCctcgtccggcgagtgggcag	15	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8953039C>T	ENST00000396593.2	-	2	506	c.147G>A	c.(145-147)agG>agA	p.R49R	CARHSP1_ENST00000561530.1_Silent_p.R49R|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000562843.1_Silent_p.R49R|CARHSP1_ENST00000311052.5_Silent_p.R49R|CARHSP1_ENST00000567554.1_Silent_p.R49R	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	49					intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding			endometrium(2)|lung(1)	3						CCGAGAAGGTCCTCGTCCGGC	0.642													False	0	False	16:8953039	0	T	8953039	C	T	8953039	2	4	88	1	0	0	0	0	0	0	0	1	2673	854	30	2		2	CARHSP1	16	8953039	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52799	8953039	81401714	15411	23123											
USP7	7874	broad.mit.edu	37	chr16	8993578	8993578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcggaaatactcctttgcGgtgggtaattcactgttatc	9	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8993578G>A	ENST00000344836.4	-	22	2544	c.2346C>T	c.(2344-2346)acC>acT	p.T782T	USP7_ENST00000381886.4_Silent_p.T766T|USP7_ENST00000535863.1_Silent_p.T683T	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	782	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTCCTTTGCGGTGGGTAATT	0.428													False	0	False	16:8993578	0	A	8993578	G	A	8993578	2	1	88	1	0	0	0	0	0	0	0	1	17172	1103	39	1		1	USP7	16	8993578	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40539	8993578	81361175	15412	23124											
USP7	7874	broad.mit.edu	37	chr16	8995939	8995939	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcgtctcgtgggcacttacGatctttatcaaacttgggta	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8995939G>A	ENST00000344836.4	-	18	2245	c.2047C>T	c.(2047-2049)Cat>Tat	p.H683Y	USP7_ENST00000381886.4_Splice_Site_p.H667Y|USP7_ENST00000535863.1_Splice_Site_p.H584Y	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	683	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GGGCACTTACGATCTTTATCA	0.483													False	0	False	16:8995939	0	A	8995939	G	A	8995939	5	1	88	1	0	0	0	0	0	0	1	0	17172	1072	37	1	1317	1	USP7	16	8995939	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2361	8995939	81358814	15413	23125											
USP7	7874	broad.mit.edu	37	chr16	8997161	8997161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaacaaactcagcaagCgaggagttcttcaatacttt	7	10	4	1	rs146507622		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8997161C>T	ENST00000344836.4	-	16	2001	c.1803G>A	c.(1801-1803)tcG>tcA	p.S601S	USP7_ENST00000381886.4_Silent_p.S585S|USP7_ENST00000535863.1_Silent_p.S502S	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	601					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTCAGCAAGCGAGGAGTTCT	0.502													False	0	False	16:8997161	0	T	8997161	C	T	8997161	2	4	88	1	0	0	0	0	0	0	0	1	17172	755	27	1		1	USP7	16	8997161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1222	8997161	81357592	15414	23126											
C16orf72	29035	broad.mit.edu	37	chr16	9196949	9196949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacgcagaagaactattcGtcgagaagatttgatcagct	9	7	1	5	rs146827336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9196949G>A	ENST00000327827.7	+	3	813	c.416G>A	c.(415-417)cGt>cAt	p.R139H		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	139										endometrium(4)|large_intestine(2)|lung(2)	8						AGAACTATTCGTCGAGAAGAT	0.453													False	0	False	16:9196949	0	A	9196949	G	A	9196949	3	1	88	1	0	0	0	0	1	0	0	0	1841	1145	40	1	426	1	C16orf72	16	9196949	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	199788	9196949	81157804	15415	23127											
GRIN2A	0	broad.mit.edu	37	chr16	9857412	9857412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtttgcttgaggggacaCtaaacaggctgccgtaaaaa	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9857412C>T	ENST00000396573.2	-	14	4298	c.3989G>A	c.(3988-3990)aGt>aAt	p.S1330N	GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1330N|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1330N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1330					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGAGGGGACACTAAACAGGCT	0.547													False	0	False	16:9857412	0	T	9857412	C	T	9857412	3	4	88	1	0	0	0	0	1	0	0	0	6826	565	20	2	409	2	GRIN2A	16	9857412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	660463	9857412	80497341	15416	23128											
GRIN2A	0	broad.mit.edu	37	chr16	9857650	9857650	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtctcctgaagcatctggtCttcatcgatgtcatagaggt	10	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9857650C>T	ENST00000396573.2	-	14	4060	c.3751G>A	c.(3751-3753)Gac>Aac	p.D1251N	GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1094N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1251N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1251N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1251N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1251					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCATCTGGTCTTCATCGATG	0.542													False	0	False	16:9857650	0	T	9857650	C	T	9857650	3	4	88	1	0	0	0	0	1	0	0	0	6826	913	32	2	647	2	GRIN2A	16	9857650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238	9857650	80497103	15417	23129											
GRIN2A	0	broad.mit.edu	37	chr16	9858386	9858386	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccggggtctagagttcgcTttggattctgtgctcacggc	14	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9858386T>G	ENST00000396573.2	-	14	3324	c.3015A>C	c.(3013-3015)aaA>aaC	p.K1005N	GRIN2A_ENST00000535259.1_Missense_Mutation_p.K848N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K1005N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K1005N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1005N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1005					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGAGTTCGCTTTGGATTCTG	0.507													False	0	True	16:9858386	0	G	9858386	T	G	9858386	3	3	88	1	0	0	0	0	1	0	0	0	6826	1606	56	4	1383	4	GRIN2A	16	9858386	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	736	9858386	80496367	15418	23130											
GRIN2A	0	broad.mit.edu	37	chr16	9862923	9862923	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagatcccagtgagccacaGggtctccagctcctccatct	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9862923G>T	ENST00000396573.2	-	13	2689	c.2380C>A	c.(2380-2382)Ctg>Atg	p.L794M	GRIN2A_ENST00000535259.1_Missense_Mutation_p.L637M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L794M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L794M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L794M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	794					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGAGCCACAGGGTCTCCAGC	0.557													False	0	True	16:9862923	0	T	9862923	G	T	9862923	3	4	88	1	0	0	0	0	1	0	0	0	6826	991	35	3	2022	3	GRIN2A	16	9862923	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4537	9862923	80491830	15419	23131											
ATF7IP2	80063	broad.mit.edu	37	chr16	10532037	10532037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaaagaattgaaccaacGcattgggaagacagagtgca	11	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10532037G>A	ENST00000396560.2	+	5	1267	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R347H|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R347H	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TTGAACCAACGCATTGGGAAG	0.333													False	0	False	16:10532037	0	A	10532037	G	A	10532037	3	1	88	1	0	0	0	0	1	0	0	0	1092	1087	38	1	1050	1	ATF7IP2	16	10532037	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	669114	10532037	79822716	15420	23132											
TEKT5	146279	broad.mit.edu	37	chr16	10775953	10775953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgggccgagcttttgtcttCgaggtccctctccagcacgt	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10775953C>T	ENST00000283025.2	-	4	831	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	254					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTTTTGTCTTCGAGGTCCCTC	0.542													False	0	False	16:10775953	0	T	10775953	C	T	10775953	3	4	88	1	0	0	0	0	1	0	0	0	15838	893	31	1	713	1	TEKT5	16	10775953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243916	10775953	79578800	15421	23133											
CIITA	4261	broad.mit.edu	37	chr16	10996534	10996534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctttctccagttcctcGttgagctgcctgaatctccc	8	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10996534G>A	ENST00000324288.8	+	8	781	c.648G>A	c.(646-648)tcG>tcA	p.S216S	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Silent_p.S167S	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	216					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCAGTTCCTCGTTGAGCTGCC	0.522			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								False	0	False	16:10996534	0	A	10996534	G	A	10996534	2	1	88	1	0	0	0	0	0	0	0	1	3451	1132	40	1		1	CIITA	16	10996534	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220581	10996534	79358219	15422	23134											
CLEC16A	23274	broad.mit.edu	37	chr16	11066877	11066877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtctggttcattgggagCcatgtgatcgaactcgatga	13	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11066877C>T	ENST00000409790.1	+	7	917	c.687C>T	c.(685-687)agC>agT	p.S229S	CLEC16A_ENST00000409552.3_Silent_p.S227S	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	229										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCATTGGGAGCCATGTGATCG	0.488													False	0	False	16:11066877	0	T	11066877	C	T	11066877	2	4	88	1	0	0	0	0	0	0	0	1	3523	738	26	2		2	CLEC16A	16	11066877	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70343	11066877	79287876	15423	23135											
CLEC16A	23274	broad.mit.edu	37	chr16	11114148	11114148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggacgaggagaaaagcgccGccgccacctgctctgagagc	14	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11114148G>A	ENST00000409790.1	+	12	1632	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	CLEC16A_ENST00000409552.3_Missense_Mutation_p.A450T	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	468								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAAAAGCGCCGCCGCCACCTG	0.617													False	0	True	16:11114148	0	A	11114148	G	A	11114148	3	1	88	1	0	0	0	0	1	0	0	0	3523	1087	38	1	1444	1	CLEC16A	16	11114148	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47271	11114148	79240605	15424	23136											
CLEC16A	23274	broad.mit.edu	37	chr16	11272254	11272254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagttggtaatcgtcaacGaaacggaagcagactctaag	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11272254G>A	ENST00000409790.1	+	24	3099	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	CLEC16A_ENST00000381822.2_Missense_Mutation_p.E44K	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	957								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AATCGTCAACGAAACGGAAGC	0.607													False	0	True	16:11272254	0	A	11272254	G	A	11272254	3	1	88	1	0	0	0	0	1	0	0	0	3523	1059	37	1	2959	1	CLEC16A	16	11272254	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158106	11272254	79082499	15425	23137											
TNP2	7142	broad.mit.edu	37	chr16	11362939	11362939	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccggatgagctgtgggctcCagttgggttgcggtggctgg	20	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11362939C>A	ENST00000312693.3	-	1	250	c.181G>T	c.(181-183)Gga>Tga	p.G61*	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	61					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CTGTGGGCTCCAGTTGGGTTG	0.617													False	0	False	16:11362939	0	A	11362939	C	A	11362939	4	1	88	1	0	0	0	0	0	1	0	0	16416	603	21	3	243	3	TNP2	16	11362939	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90685	11362939	78991814	15426	23138											
LITAF	9516	broad.mit.edu	37	chr16	11650327	11650327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgattcccagggtggaggGccaaggaatggtaagggggg	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11650327G>A	ENST00000574703.1	-	2	298	c.260C>T	c.(259-261)gCc>gTc	p.A87V	LITAF_ENST00000572255.1_Intron|LITAF_ENST00000571459.1_Intron|LITAF_ENST00000576036.1_Intron|LITAF_ENST00000381810.3_Intron|LITAF_ENST00000413364.2_Intron|LITAF_ENST00000571976.1_Intron|LITAF_ENST00000571688.1_Intron|LITAF_ENST00000570904.1_Intron|LITAF_ENST00000339430.5_Intron|LITAF_ENST00000574763.1_Intron			Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	0					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						AGGGTGGAGGGCCAAGGAATG	0.527													False	0	True	16:11650327	0	A	11650327	G	A	11650327	3	1	88	1	0	0	0	0	1	0	0	0	8883	1218	42	2		2	LITAF	16	11650327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	287388	11650327	78704426	15427	23139											
TXNDC11	51061	broad.mit.edu	37	chr16	11785193	11785193	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttggatccaagatgtaatgaGattcttctttcacgtcaaca	7	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11785193G>T	ENST00000356957.3	-	9	2041	c.1934C>A	c.(1933-1935)tCt>tAt	p.S645Y	TXNDC11_ENST00000283033.5_Missense_Mutation_p.S618Y			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	645					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		p.S618C(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATGTAATGAGATTCTTCTTT	0.423													False	0	False	16:11785193	0	T	11785193	G	T	11785193	3	4	88	1	0	0	0	0	1	0	0	0	16876	942	33	3	1043	3	TXNDC11	16	11785193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134866	11785193	78569560	15428	23140											
TXNDC11	51061	broad.mit.edu	37	chr16	11785247	11785247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcacctgagtggagctcGgagcacccagtctctctgca	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11785247G>A	ENST00000356957.3	-	9	1987	c.1880C>T	c.(1879-1881)cCg>cTg	p.P627L	TXNDC11_ENST00000283033.5_Missense_Mutation_p.P600L			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	627					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGTGGAGCTCGGAGCACCCAG	0.438													False	0	False	16:11785247	0	A	11785247	G	A	11785247	3	1	88	1	0	0	0	0	1	0	0	0	16876	1116	39	1	1097	1	TXNDC11	16	11785247	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	11785247	78569506	15429	23141											
TXNDC11	51061	broad.mit.edu	37	chr16	11792005	11792005	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctattaaaggatgactttcGgccaggggattaaaaggtat	11	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11792005G>A	ENST00000356957.3	-	8	1271	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	TXNDC11_ENST00000283033.5_Silent_p.A361A			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	388					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATGACTTTCGGCCAGGGGAT	0.507													False	0	False	16:11792005	0	A	11792005	G	A	11792005	2	1	88	1	0	0	0	0	0	0	0	1	16876	1103	39	1		1	TXNDC11	16	11792005	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6758	11792005	78562748	15430	23142											
RSL1D1	26156	broad.mit.edu	37	chr16	11941533	11941533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcttcctacctgagaaaCggttttaattccatgcttgt	8	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11941533C>T	ENST00000571133.1	-	3	448	c.376G>A	c.(376-378)Gtt>Att	p.V126I	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	126					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						ACCTGAGAAACGGTTTTAATT	0.318													False	0	True	16:11941533	0	T	11941533	C	T	11941533	3	4	88	1	0	0	0	0	1	0	0	0	13779	536	19	1	1124	1	RSL1D1	16	11941533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149528	11941533	78413220	15431	23143											
GSPT1	2935	broad.mit.edu	37	chr16	11967016	11967016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttcagaacttttccaattGcaatggtcttacctagaaat	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11967016G>A	ENST00000434724.2	-	15	2073	c.1874C>T	c.(1873-1875)gCa>gTa	p.A625V	GSPT1_ENST00000563468.1_Missense_Mutation_p.A487V|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Missense_Mutation_p.A624V|GSPT1_ENST00000420576.2_Missense_Mutation_p.A487V	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085	P15170	ERF3A_HUMAN	G1 to S phase transition 1	487					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TTTTCCAATTGCAATGGTCTT	0.308													False	0	False	16:11967016	0	A	11967016	G	A	11967016	3	1	88	1	0	0	0	0	1	0	0	0	6873	1319	46	2	43	2	GSPT1	16	11967016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25483	11967016	78387737	15432	23144											
GSPT1	2935	broad.mit.edu	37	chr16	11990584	11990584	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccctggctctgcttcactTatttcttctttgtgctccca	5	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11990584T>G	ENST00000434724.2	-	4	694	c.495A>C	c.(493-495)atA>atC	p.I165I	GSPT1_ENST00000563468.1_Silent_p.I27I|GSPT1_ENST00000439887.2_Silent_p.I164I|GSPT1_ENST00000420576.2_Silent_p.I27I	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085	P15170	ERF3A_HUMAN	G1 to S phase transition 1	27					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						CTGCTTCACTTATTTCTTCTT	0.433													False	0	False	16:11990584	0	G	11990584	T	G	11990584	2	3	88	1	0	0	0	0	0	0	0	1	6873	1744	61	4		4	GSPT1	16	11990584	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23568	11990584	78364169	15433	23145											
SNX29	92017	broad.mit.edu	37	chr16	12450028	12450028	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttgtgttccaggtggcagaGatgcatggcgagctgattga	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:12450028G>T	ENST00000566228.1	+	16	1860	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D	SNX29_ENST00000323433.4_Missense_Mutation_p.E212D|SNX29_ENST00000306030.3_Missense_Mutation_p.E212D	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	212					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGGTGGCAGAGATGCATGGCG	0.587													False	0	False	16:12450028	0	T	12450028	G	T	12450028	3	4	88	1	0	0	0	0	1	0	0	0	14978	933	33	3	666	3	SNX29	16	12450028	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	459444	12450028	77904725	15434	23146											
ERCC4	2072	broad.mit.edu	37	chr16	14022092	14022092	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attggaaaaccttttgacaaGgtactctttttccttttaag	6	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14022092G>T	ENST00000311895.7	+	4	801	c.792G>T	c.(790-792)aaG>aaT	p.K264N	ERCC4_ENST00000575156.1_Splice_Site_p.K264N|ERCC4_ENST00000574781.1_3'UTR	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	264					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CTTTTGACAAGGTACTCTTTT	0.284			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	16:14022092	0	T	14022092	G	T	14022092	5	4	88	1	0	0	0	0	0	0	1	0	5247	1014	35	3	806	3	ERCC4	16	14022092	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1572064	14022092	76332661	15435	23147											
ERCC4	2072	broad.mit.edu	37	chr16	14029331	14029331	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgtcgaggaaggataTcgtcgagaaataagcagtag	15	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14029331T>G	ENST00000311895.7	+	8	1551	c.1542T>G	c.(1540-1542)taT>taG	p.Y514*	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	514					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGGAAGGATATCGTCGAGAAA	0.413			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	16:14029331	0	G	14029331	T	G	14029331	4	3	88	1	0	0	0	0	0	1	0	0	5247	1442	50	4	1572	4	ERCC4	16	14029331	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7239	14029331	76325422	15436	23148											
ERCC4	2072	broad.mit.edu	37	chr16	14029521	14029521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagtggagccaagatacGtggttctttatgacgcagag	13	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14029521G>A	ENST00000311895.7	+	8	1741	c.1732G>A	c.(1732-1734)Gtg>Atg	p.V578M		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	578					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCCAAGATACGTGGTTCTTTA	0.493			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	16:14029521	0	A	14029521	G	A	14029521	3	1	88	1	0	0	0	0	1	0	0	0	5247	1145	40	1	1762	1	ERCC4	16	14029521	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190	14029521	76325232	15437	23149											
ERCC4	2072	broad.mit.edu	37	chr16	14041754	14041754	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttgaccctagcaagcctttCtctctcacttcccgaggtgc	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14041754C>T	ENST00000311895.7	+	11	2310	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	767	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCAAGCCTTTCTCTCTCACTT	0.498			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	True	16:14041754	0	T	14041754	C	T	14041754	2	4	88	1	0	0	0	0	0	0	0	1	5247	912	32	2		2	ERCC4	16	14041754	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12233	14041754	76312999	15438	23150											
MKL2	57496	broad.mit.edu	37	chr16	14234480	14234480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaatggatcacacaggggCgatagacaccgaggatgaag	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14234480C>T	ENST00000571589.1	+	3	189	c.17C>T	c.(16-18)gCg>gTg	p.A6V	MKL2_ENST00000574045.1_Missense_Mutation_p.A6V|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000318282.5_Missense_Mutation_p.A6V	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACACAGGGGCGATAGACACC	0.502													False	0	True	16:14234480	0	T	14234480	C	T	14234480	3	4	88	1	0	0	0	0	1	0	0	0	9669	768	27	1	19	1	MKL2	16	14234480	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192726	14234480	76120273	15439	23151											
MKL2	57496	broad.mit.edu	37	chr16	14334513	14334513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccacatggtgagagtggCctgcattccattccagtttc	10	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14334513C>T	ENST00000573051.1	+	9	1126	c.968C>T	c.(967-969)gCc>gTc	p.A323V	MKL2_ENST00000574045.1_Intron|MKL2_ENST00000341243.5_Intron|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000571589.1_Intron|MKL2_ENST00000572567.1_3'UTR			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGAGAGTGGCCTGCATTCCA	0.348													False	0	False	16:14334513	0	T	14334513	C	T	14334513	3	4	88	1	0	0	0	0	1	0	0	0	9669	754	26	2		2	MKL2	16	14334513	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100033	14334513	76020240	15440	23152											
MKL2	57496	broad.mit.edu	37	chr16	14340860	14340860	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggagaaagagaagcaaatCgaagagctgaagaggaaact	13	5	0	5	rs148779363	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14340860C>T	ENST00000571589.1	+	12	1915	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	MKL2_ENST00000574045.1_Silent_p.I581I|MKL2_ENST00000341243.5_Silent_p.I570I|MKL2_ENST00000318282.5_Silent_p.I581I	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	570	Required for interaction with itself and with MKL1.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	p.I581I(3)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAAGCAAATCGAAGAGCTGA	0.507													False	0	False	16:14340860	0	T	14340860	C	T	14340860	2	4	88	1	0	0	0	0	0	0	0	1	9669	874	31	1		1	MKL2	16	14340860	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6347	14340860	76013893	15441	23153											
MKL2	57496	broad.mit.edu	37	chr16	14341058	14341058	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctcactccctgactgCtccagctccaggcagcccat	9	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14341058C>A	ENST00000571589.1	+	12	2113	c.1941C>A	c.(1939-1941)tgC>tgA	p.C647*	MKL2_ENST00000574045.1_Nonsense_Mutation_p.C647*|MKL2_ENST00000341243.5_Nonsense_Mutation_p.C636*|MKL2_ENST00000318282.5_Nonsense_Mutation_p.C647*	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	636					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCTGACTGCTCCAGCTCCA	0.587													False	0	True	16:14341058	0	A	14341058	C	A	14341058	4	1	88	1	0	0	0	0	0	1	0	0	9669	805	28	3	1979	3	MKL2	16	14341058	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	14341058	76013695	15442	23154											
BFAR	51283	broad.mit.edu	37	chr16	14738367	14738367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggcacagcttctgccGtcactgccttgctttatggt	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14738367G>A	ENST00000261658.2	+	2	441	c.164G>A	c.(163-165)cGt>cAt	p.R55H	BFAR_ENST00000426842.2_5'UTR|BFAR_ENST00000563971.1_Missense_Mutation_p.R55H	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	55					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AGCTTCTGCCGTCACTGCCTT	0.488													False	0	False	16:14738367	0	A	14738367	G	A	14738367	3	1	88	1	0	0	0	0	1	0	0	0	1419	1145	40	1	166	1	BFAR	16	14738367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	397309	14738367	75616386	15443	23155											
NOMO1	23420	broad.mit.edu	37	chr16	14970277	14970277	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcctgtttttagaaggccaGatccaccccgagttggaagg	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14970277G>T	ENST00000287667.7	+	21	2589	c.2418G>T	c.(2416-2418)caG>caT	p.Q806H		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	806						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TAGAAGGCCAGATCCACCCCG	0.507													False	0	False	16:14970277	0	T	14970277	G	T	14970277	3	4	88	1	0	0	0	0	1	0	0	0	10599	933	33	3	2500	3	NOMO1	16	14970277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	231910	14970277	75384476	15444	23156											
NOMO1	23420	broad.mit.edu	37	chr16	14989432	14989432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccgcgcgctcggccaggCagcctctgacaatagcggcc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14989432C>T	ENST00000287667.7	+	31	3770	c.3599C>T	c.(3598-3600)gCa>gTa	p.A1200V		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1200						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTCGGCCAGGCAGCCTCTGAC	0.542													False	0	False	16:14989432	0	T	14989432	C	T	14989432	3	4	88	1	0	0	0	0	1	0	0	0	10599	710	25	2	3721	2	NOMO1	16	14989432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19155	14989432	75365321	15445	23157											
PDXDC1	23042	broad.mit.edu	37	chr16	15098085	15098085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtcatatggctttgttggGacatagtctgggagcttata	13	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15098085G>A	ENST00000396410.4	+	5	381	c.284G>A	c.(283-285)gGa>gAa	p.G95E	PDXDC1_ENST00000563679.1_Missense_Mutation_p.G113E|PDXDC1_ENST00000455313.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000325823.7_Missense_Mutation_p.G80E|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000450288.2_Missense_Mutation_p.G67E|PDXDC1_ENST00000535621.2_Missense_Mutation_p.G95E|PDXDC1_ENST00000569715.1_Missense_Mutation_p.G68E	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	95					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCTTTGTTGGGACATAGTCTG	0.353													False	0	True	16:15098085	0	A	15098085	G	A	15098085	3	1	88	1	0	0	0	0	1	0	0	0	11764	1174	41	2	302	2	PDXDC1	16	15098085	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108653	15098085	75256668	15446	23158											
PDXDC1	23042	broad.mit.edu	37	chr16	15116568	15116568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcatttgcagagtcaacGgttgcaggaaagtttgaaga	12	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15116568G>A	ENST00000396410.4	+	13	1194	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384Q|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343Q|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351Q|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275Q|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338Q|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366Q|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339Q	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	366					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CAGAGTCAACGGTTGCAGGAA	0.373													False	0	False	16:15116568	0	A	15116568	G	A	15116568	3	1	88	1	0	0	0	0	1	0	0	0	11764	1116	39	1	1147	1	PDXDC1	16	15116568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18483	15116568	75238185	15447	23159											
KIAA0430	9665	broad.mit.edu	37	chr16	15718648	15718648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagaccaagactgagatgCgagcagaggactgacttgcc	13	9	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15718648C>T	ENST00000396368.3	-	10	2454	c.2248G>A	c.(2248-2250)Gca>Aca	p.A750T	KIAA0430_ENST00000551742.1_Missense_Mutation_p.A749T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A607T|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A747T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A428T|KIAA0430_ENST00000602337.1_Missense_Mutation_p.A747T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	749						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GACTGAGATGCGAGCAGAGGA	0.428													False	0	False	16:15718648	0	T	15718648	C	T	15718648	3	4	88	1	0	0	0	0	1	0	0	0	8227	768	27	1	3055	1	KIAA0430	16	15718648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	602080	15718648	74636105	15448	23160											
KIAA0430	9665	broad.mit.edu	37	chr16	15728717	15728717	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagagggacagcaagaggTgcaggttgagtatttggagg	17	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15728717T>C	ENST00000396368.3	-	4	1109	c.903A>G	c.(901-903)gcA>gcG	p.A301A	KIAA0430_ENST00000551742.1_Silent_p.A301A|KIAA0430_ENST00000540441.2_Silent_p.A301A|KIAA0430_ENST00000548025.1_Silent_p.A301A|KIAA0430_ENST00000602337.1_Silent_p.A301A|KIAA0430_ENST00000344181.3_Silent_p.A123A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	300						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CAGCAAGAGGTGCAGGTTGAG	0.438													False	0	False	16:15728717	0	C	15728717	T	C	15728717	2	2	88	1	0	0	0	0	0	0	0	1	8227	1683	59	4		4	KIAA0430	16	15728717	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10069	15728717	74626036	15449	23161											
KIAA0430	9665	broad.mit.edu	37	chr16	15729733	15729733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagcttgtgcacattaCcatgacatgactggaagtgg	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15729733C>A	ENST00000396368.3	-	3	817	c.611G>T	c.(610-612)gGt>gTt	p.G204V	KIAA0430_ENST00000551742.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000540441.2_Missense_Mutation_p.G204V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G204V|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G26V	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	203						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GTGCACATTACCATGACATGA	0.522													False	0	True	16:15729733	0	A	15729733	C	A	15729733	3	1	88	1	0	0	0	0	1	0	0	0	8227	507	18	3	4720	3	KIAA0430	16	15729733	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1016	15729733	74625020	15450	23162											
NDE1	54820	broad.mit.edu	37	chr16	15781279	15781279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagcgcttgaatcaggCcatcgaaagaaatgccttcc	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15781279C>T	ENST00000396355.1	+	6	1260	c.434C>T	c.(433-435)gCc>gTc	p.A145V	NDE1_ENST00000396354.1_Missense_Mutation_p.A145V|NDE1_ENST00000396353.2_Missense_Mutation_p.A145V|NDE1_ENST00000342673.5_Missense_Mutation_p.A145V	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	145	Interaction with PAFAH1B1 (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TTGAATCAGGCCATCGAAAGA	0.498													False	0	False	16:15781279	0	T	15781279	C	T	15781279	3	4	88	1	0	0	0	0	1	0	0	0	10311	739	26	2	448	2	NDE1	16	15781279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51546	15781279	74573474	15451	23163											
MYH11	4629	broad.mit.edu	37	chr16	15814797	15814797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatgttgacttccagccGcagtttggcgtcctccgtgg	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15814797G>A	ENST00000452625.2	-	34	4798	c.4711C>T	c.(4711-4713)Cgg>Tgg	p.R1571W	NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.R1571W|MYH11_ENST00000576790.2_Missense_Mutation_p.R1564W|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000300036.5_Missense_Mutation_p.R1564W|NDE1_ENST00000396355.1_Intron	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1564					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACTTCCAGCCGCAGTTTGGCG	0.602			T	CBFB	AML								False	0	False	16:15814797	0	A	15814797	G	A	15814797	3	1	88	1	0	0	0	0	1	0	0	0	10098	1086	38	1	1299	1	MYH11	16	15814797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33518	15814797	74539956	15452	23164											
MYH11	4629	broad.mit.edu	37	chr16	15826526	15826526	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaccgcgtctcttcatccagGgccttcttcagcaccgtcac	8	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15826526G>T	ENST00000452625.2	-	28	3654	c.3567C>A	c.(3565-3567)gcC>gcA	p.A1189A	MYH11_ENST00000396324.3_Silent_p.A1189A|MYH11_ENST00000576790.2_Silent_p.A1182A|MYH11_ENST00000300036.5_Silent_p.A1182A|AF001548.5_ENST00000574212.1_RNA	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1182					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTCATCCAGGGCCTTCTTCA	0.597			T	CBFB	AML								False	0	True	16:15826526	0	T	15826526	G	T	15826526	2	4	88	1	0	0	0	0	0	0	0	1	10098	1219	43	3		3	MYH11	16	15826526	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11729	15826526	74528227	15453	23165											
MYH11	4629	broad.mit.edu	37	chr16	15829434	15829434	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcgatttcatcgtcaaGccttccagggagagacccag	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15829434G>T	ENST00000452625.2	-	27	3403	c.3316C>A	c.(3316-3318)Ctt>Att	p.L1106I	MYH11_ENST00000396324.3_Splice_Site_p.L1106I|MYH11_ENST00000576790.2_Splice_Site_p.L1099I|MYH11_ENST00000300036.5_Splice_Site_p.L1099I	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1099					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCATCGTCAAGCCTTCCAGGG	0.542			T	CBFB	AML								False	0	False	16:15829434	0	T	15829434	G	T	15829434	5	4	88	1	0	0	0	0	0	0	1	0	10098	985	34	3	2722	3	MYH11	16	15829434	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2908	15829434	74525319	15454	23166											
MYH11	4629	broad.mit.edu	37	chr16	15841795	15841795	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcattcgccgccaggatcTcgtagcttgaaacacagagc	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15841795T>G	ENST00000452625.2	-	19	2294	c.2207A>C	c.(2206-2208)gAg>gCg	p.E736A	MYH11_ENST00000396324.3_Missense_Mutation_p.E736A|MYH11_ENST00000576790.2_Missense_Mutation_p.E729A|MYH11_ENST00000300036.5_Missense_Mutation_p.E729A	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	729	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCCAGGATCTCGTAGCTTGA	0.607			T	CBFB	AML								False	0	False	16:15841795	0	G	15841795	T	G	15841795	3	3	88	1	0	0	0	0	1	0	0	0	10098	1551	54	4	3863	4	MYH11	16	15841795	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12361	15841795	74512958	15455	23167											
MYH11	4629	broad.mit.edu	37	chr16	15844149	15844149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgggcagcgagctctccGtcatcttggccatctggtcc	12	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15844149G>A	ENST00000452625.2	-	17	2012	c.1925C>T	c.(1924-1926)aCg>aTg	p.T642M	MYH11_ENST00000396324.3_Missense_Mutation_p.T642M|MYH11_ENST00000576790.2_Missense_Mutation_p.T635M|MYH11_ENST00000300036.5_Missense_Mutation_p.T635M	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	635	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.T635M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGAGCTCTCCGTCATCTTGGC	0.627			T	CBFB	AML								False	0	False	16:15844149	0	A	15844149	G	A	15844149	3	1	88	1	0	0	0	0	1	0	0	0	10098	1145	40	1	4153	1	MYH11	16	15844149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2354	15844149	74510604	15456	23168											
MYH11	4629	broad.mit.edu	37	chr16	15853516	15853516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtccagggctttgttcaCgcgggtgagtatccagcgga	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15853516C>T	ENST00000452625.2	-	13	1426	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	MYH11_ENST00000396324.3_Missense_Mutation_p.V447M|MYH11_ENST00000576790.2_Missense_Mutation_p.V440M|MYH11_ENST00000300036.5_Missense_Mutation_p.V440M	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	440	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTTTGTTCACGCGGGTGAGT	0.552			T	CBFB	AML								False	0	False	16:15853516	0	T	15853516	C	T	15853516	3	4	88	1	0	0	0	0	1	0	0	0	10098	536	19	1	4755	1	MYH11	16	15853516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9367	15853516	74501237	15457	23169											
ABCC6	368	broad.mit.edu	37	chr16	16251606	16251606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagcccaaagtcccggaactCgatctgcccgccctgaggcc	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:16251606C>T	ENST00000205557.7	-	27	3825	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1266	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCCCGGAACTCGATCTGCCCG	0.627													False	0	False	16:16251606	0	T	16251606	C	T	16251606	3	4	88	1	0	0	0	0	1	0	0	0	57	893	31	1	735	1	ABCC6	16	16251606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	398090	16251606	74103147	15458	23170											
ABCC6	368	broad.mit.edu	37	chr16	16276333	16276333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggctgcagggcacagGcttctagtactctctccagc	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:16276333G>A	ENST00000205557.7	-	17	2212	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	728	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CAGGGCACAGGCTTCTAGTAC	0.582													False	0	False	16:16276333	0	A	16276333	G	A	16276333	3	1	88	1	0	0	0	0	1	0	0	0	57	1203	42	2	2388	2	ABCC6	16	16276333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24727	16276333	74078420	15459	23171											
XYLT1	64131	broad.mit.edu	37	chr16	17211831	17211831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttggcatcccagtcagtGccgacctgaaacaggggagt	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17211831G>A	ENST00000261381.6	-	11	2313	c.2229C>T	c.(2227-2229)ggC>ggT	p.G743G		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	743					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCAGTCAGTGCCGACCTGAA	0.547													False	0	True	16:17211831	0	A	17211831	G	A	17211831	2	1	88	1	0	0	0	0	0	0	0	1	17547	1306	46	2		2	XYLT1	16	17211831	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	935498	17211831	73142922	15460	23172											
XYLT1	64131	broad.mit.edu	37	chr16	17352928	17352928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtctccccaatctcctggCggcagtgcttggacttagca	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17352928C>T	ENST00000261381.6	-	3	914	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	277					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATCTCCTGGCGGCAGTGCTT	0.607													False	0	False	16:17352928	0	T	17352928	C	T	17352928	3	4	88	1	0	0	0	0	1	0	0	0	17547	768	27	1	2089	1	XYLT1	16	17352928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141097	17352928	73001825	15461	23173											
XYLT1	64131	broad.mit.edu	37	chr16	17353281	17353281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgtcgacattctcaaaGtctttggggacagagttctc	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17353281G>A	ENST00000261381.6	-	3	561	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	159					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATTCTCAAAGTCTTTGGGGA	0.502													False	0	True	16:17353281	0	A	17353281	G	A	17353281	2	1	88	1	0	0	0	0	0	0	0	1	17547	1020	36	2		2	XYLT1	16	17353281	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	353	17353281	73001472	15462	23174											
NOMO2	283820	broad.mit.edu	37	chr16	18532153	18532153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaccatctcctgcacgggaGgcttggtcattctttcttca	8	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18532153G>T	ENST00000330537.6	-	19	2377	c.2207C>A	c.(2206-2208)cCt>cAt	p.P736H	NOMO2_ENST00000543392.1_Missense_Mutation_p.P569H|NOMO2_ENST00000381474.3_Missense_Mutation_p.P736H	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	736						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CTGCACGGGAGGCTTGGTCAT	0.557													False	0	False	16:18532153	0	T	18532153	G	T	18532153	3	4	88	1	0	0	0	0	1	0	0	0	10600	1000	35	3	1656	3	NOMO2	16	18532153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1178872	18532153	71822600	15463	23175											
SMG1	23049	broad.mit.edu	37	chr16	18823443	18823443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctggccagtgttactcCggactgctacagagaaagag	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18823443C>T	ENST00000446231.2	-	61	11040	c.10628G>A	c.(10627-10629)cGg>cAg	p.R3543Q	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.R3544Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3543					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTGTTACTCCGGACTGCTAC	0.473													False	0	False	16:18823443	0	T	18823443	C	T	18823443	3	4	88	1	0	0	0	0	1	0	0	0	14875	652	23	1	369	1	SMG1	16	18823443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291290	18823443	71531310	15464	23176											
SMG1	23049	broad.mit.edu	37	chr16	18840938	18840938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagccctatcaagagctgCctcacaaagtcagctgtgaa	10	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18840938C>T	ENST00000446231.2	-	54	9685	c.9273G>A	c.(9271-9273)agG>agA	p.R3091R	SMG1_ENST00000389467.3_Silent_p.R3091R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3091					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCAAGAGCTGCCTCACAAAGT	0.458													False	0	False	16:18840938	0	T	18840938	C	T	18840938	2	4	88	1	0	0	0	0	0	0	0	1	14875	738	26	2		2	SMG1	16	18840938	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17495	18840938	71513815	15465	23177											
SMG1	23049	broad.mit.edu	37	chr16	18849783	18849783	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctcaggaactctaaggcTtttaccttgaaaagacaaat	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18849783T>G	ENST00000446231.2	-	44	7502	c.7090A>C	c.(7090-7092)Agc>Cgc	p.S2364R	SMG1_ENST00000389467.3_Missense_Mutation_p.S2364R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2364	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACTCTAAGGCTTTTACCTTGA	0.343													False	0	True	16:18849783	0	G	18849783	T	G	18849783	3	3	88	1	0	0	0	0	1	0	0	0	14875	1609	56	4	3975	4	SMG1	16	18849783	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8845	18849783	71504970	15466	23178											
SMG1	23049	broad.mit.edu	37	chr16	18856783	18856783	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccagctgctcccaggctTtgcagggttcaatggagtct	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18856783T>C	ENST00000446231.2	-	39	6599	c.6187A>G	c.(6187-6189)Aag>Gag	p.K2063E	SMG1_ENST00000389467.3_Missense_Mutation_p.K2063E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2063					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTCCCAGGCTTTGCAGGGTTC	0.428													False	0	True	16:18856783	0	C	18856783	T	C	18856783	3	2	88	1	0	0	0	0	1	0	0	0	14875	1850	64	4	4898	4	SMG1	16	18856783	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7000	18856783	71497970	15467	23179											
TMC7	79905	broad.mit.edu	37	chr16	19058438	19058438	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gattcagtgctgggggcagcAggagtttgccattcctgata	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19058438A>G	ENST00000421369.3	+	12	1835	c.1277A>G	c.(1276-1278)cAg>cGg	p.Q426R	TMC7_ENST00000304381.5_Missense_Mutation_p.Q536R|TMC7_ENST00000569532.1_Missense_Mutation_p.Q536R	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	536						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGGGGGCAGCAGGAGTTTGCC	0.532													False	0	False	16:19058438	0	G	19058438	A	G	19058438	3	3	88	1	0	0	0	0	1	0	0	0	16072	188	7	4	1653	4	TMC7	16	19058438	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	201655	19058438	71296315	15468	23180											
SYT17	51760	broad.mit.edu	37	chr16	19195263	19195263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagcagaccggggtcaaaCgcaagacccagaagcccgtg	12	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19195263C>T	ENST00000562034.1	+	3	4360	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	SYT17_ENST00000562711.2_Missense_Mutation_p.R245C|SYT17_ENST00000355377.2_Missense_Mutation_p.R249C|SYT17_ENST00000568115.1_Missense_Mutation_p.R188C			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	249	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CGGGGTCAAACGCAAGACCCA	0.597													False	0	True	16:19195263	0	T	19195263	C	T	19195263	3	4	88	1	0	0	0	0	1	0	0	0	15555	536	19	1	763	1	SYT17	16	19195263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136825	19195263	71159490	15469	23181											
TMC5	79838	broad.mit.edu	37	chr16	19483470	19483470	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttcaatcagctgctgaccCgcttctctgcctacatggta	8	14	3	1	rs142693954		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19483470C>T	ENST00000396229.2	+	11	2592	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	TMC5_ENST00000381414.4_Missense_Mutation_p.R615C|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000561503.1_Missense_Mutation_p.R256C|TMC5_ENST00000564959.1_Missense_Mutation_p.R298C|TMC5_ENST00000219821.5_Missense_Mutation_p.R369C|TMC5_ENST00000542583.2_Missense_Mutation_p.R615C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	615						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTGCTGACCCGCTTCTCTGC	0.498													False	0	True	16:19483470	0	T	19483470	C	T	19483470	3	4	88	1	0	0	0	0	1	0	0	0	16070	652	23	1	2191	1	TMC5	16	19483470	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	288207	19483470	70871283	15470	23182											
C16orf62	57020	broad.mit.edu	37	chr16	19702706	19702706	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagcctctacgggggagaCtccaagttcctggcagaaaa	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19702706C>T	ENST00000438132.3	+	29	2874	c.2826C>T	c.(2824-2826)gaC>gaT	p.D942D	C16orf62_ENST00000542263.1_Silent_p.D849D|C16orf62_ENST00000417362.2_Silent_p.D760D|C16orf62_ENST00000448695.1_Silent_p.D703D|C16orf62_ENST00000251143.5_Silent_p.D853D|C16orf62_ENST00000543152.1_Silent_p.D602D	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	853						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ACGGGGGAGACTCCAAGTTCC	0.577													False	0	False	16:19702706	0	T	19702706	C	T	19702706	2	4	88	1	0	0	0	0	0	0	0	1	1835	564	20	2		2	C16orf62	16	19702706	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219236	19702706	70652047	15471	23183											
C16orf62	57020	broad.mit.edu	37	chr16	19710833	19710833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtttcaggccctgaagCgccagagctcgttgggcctt	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19710833C>T	ENST00000438132.3	+	30	2971	c.2923C>T	c.(2923-2925)Cgc>Tgc	p.R975C	C16orf62_ENST00000542263.1_Missense_Mutation_p.R882C|C16orf62_ENST00000417362.2_Missense_Mutation_p.R793C|C16orf62_ENST00000448695.1_Missense_Mutation_p.R736C|C16orf62_ENST00000251143.5_Missense_Mutation_p.R886C|C16orf62_ENST00000543152.1_Missense_Mutation_p.R635C	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	886						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGCCCTGAAGCGCCAGAGCTC	0.582													False	0	False	16:19710833	0	T	19710833	C	T	19710833	3	4	88	1	0	0	0	0	1	0	0	0	1835	768	27	1	2774	1	C16orf62	16	19710833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8127	19710833	70643920	15472	23184											
IQCK	124152	broad.mit.edu	37	chr16	19838353	19838353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgggattttccaggttcgCtgtgatcctgagattcaaga	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19838353C>T	ENST00000541926.1	+	7	633	c.611C>T	c.(610-612)gCt>gTt	p.A204V	IQCK_ENST00000433597.2_Silent_p.R144R|IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000564186.1_Silent_p.R232R|IQCK_ENST00000320394.6_Silent_p.R232R			Q8N0W5	IQCK_HUMAN	IQ motif containing K	0										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TCCAGGTTCGCTGTGATCCTG	0.448													False	0	False	16:19838353	0	T	19838353	C	T	19838353	3	4	88	1	0	0	0	0	1	0	0	0	7863	784	28	2	726	2	IQCK	16	19838353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127520	19838353	70516400	15473	23185											
GPRC5B	0	broad.mit.edu	37	chr16	19883239	19883239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcatcctgggctgcgacGtgtcgaagtagttgggcgtg	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883239G>A	ENST00000300571.2	-	2	1120	c.929C>T	c.(928-930)aCg>aTg	p.T310M	GPRC5B_ENST00000569479.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000535671.1_Missense_Mutation_p.T310M|GPRC5B_ENST00000537135.1_Missense_Mutation_p.T336M|GPRC5B_ENST00000569847.1_Missense_Mutation_p.T310M	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	310										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGGCTGCGACGTGTCGAAGTA	0.617													False	0	False	16:19883239	0	A	19883239	G	A	19883239	3	1	88	1	0	0	0	0	1	0	0	0	6772	1145	40	1	294	1	GPRC5B	16	19883239	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44886	19883239	70471514	15474	23186											
GPRC5B	0	broad.mit.edu	37	chr16	19883350	19883350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctggccgccagcgtgatgGccaaggtggggtcgttccag	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883350G>A	ENST00000300571.2	-	2	1009	c.818C>T	c.(817-819)gCc>gTc	p.A273V	GPRC5B_ENST00000569479.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A273V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A299V|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A273V	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	273										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGCGTGATGGCCAAGGTGGG	0.622													False	0	False	16:19883350	0	A	19883350	G	A	19883350	3	1	88	1	0	0	0	0	1	0	0	0	6772	1203	42	2	405	2	GPRC5B	16	19883350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	19883350	70471403	15475	23187											
GPRC5B	0	broad.mit.edu	37	chr16	19883423	19883423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtacatggtcatccaggCcacccagatgagcacagaga	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883423C>T	ENST00000300571.2	-	2	936	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	GPRC5B_ENST00000569479.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A249T|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A275T|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A249T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	249										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTCATCCAGGCCACCCAGATG	0.622													False	0	False	16:19883423	0	T	19883423	C	T	19883423	3	4	88	1	0	0	0	0	1	0	0	0	6772	739	26	2	478	2	GPRC5B	16	19883423	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	19883423	70471330	15476	23188											
GPRC5B	0	broad.mit.edu	37	chr16	19883930	19883930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttgatgaagggcagccGcaccaggaggatgagcatca	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883930G>A	ENST00000300571.2	-	2	429	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	GPRC5B_ENST00000569479.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R80W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R106W|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R80W	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	80								p.R80W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AAGGGCAGCCGCACCAGGAGG	0.637													False	0	False	16:19883930	0	A	19883930	G	A	19883930	3	1	88	1	0	0	0	0	1	0	0	0	6772	1086	38	1	985	1	GPRC5B	16	19883930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	507	19883930	70470823	15477	23189											
GPR139	124274	broad.mit.edu	37	chr16	20043299	20043299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggctgtgttcagaagggCtagcatgttggcaatgtcgg	16	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043299C>A	ENST00000570682.1	-	2	1120	c.820G>T	c.(820-822)Gcc>Tcc	p.A274S		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	274						integral to membrane|plasma membrane		p.A274S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCAGAAGGGCTAGCATGTTG	0.552													False	0	True	16:20043299	0	A	20043299	C	A	20043299	3	1	88	1	0	0	0	0	1	0	0	0	6694	797	28	3	245	3	GPR139	16	20043299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159369	20043299	70311454	15478	23190											
GPR139	124274	broad.mit.edu	37	chr16	20043354	20043354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagcggttctggatgggCgccccatagaggtggtaaag	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043354C>T	ENST00000570682.1	-	2	1065	c.765G>A	c.(763-765)gcG>gcA	p.A255A		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	255						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCTGGATGGGCGCCCCATAGA	0.532													False	0	True	16:20043354	0	T	20043354	C	T	20043354	2	4	88	1	0	0	0	0	0	0	0	1	6694	755	27	1		1	GPR139	16	20043354	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55	20043354	70311399	15479	23191											
GPR139	124274	broad.mit.edu	37	chr16	20043983	20043983	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggatgatcactgtcaAgatatttgctgtggagagaa	14	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043983A>G	ENST00000570682.1	-	2	436	c.136T>C	c.(136-138)Ttg>Ctg	p.L46L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	46						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATCACTGTCAAGATATTTGCT	0.473													False	0	False	16:20043983	0	G	20043983	A	G	20043983	2	3	88	1	0	0	0	0	0	0	0	1	6694	69	3	4		4	GPR139	16	20043983	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	629	20043983	70310770	15480	23192											
GP2	2813	broad.mit.edu	37	chr16	20331047	20331047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatgatgaaatcattgAccaaggagagggtgtttttg	12	5	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20331047A>G	ENST00000302555.5	-	6	1051	c.902T>C	c.(901-903)gTc>gCc	p.V301A	GP2_ENST00000341642.5_Missense_Mutation_p.V154A|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381362.4_Missense_Mutation_p.V304A|GP2_ENST00000381360.5_Missense_Mutation_p.V157A			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	304	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAAATCATTGACCAAGGAGAG	0.423													False	0	False	16:20331047	0	G	20331047	A	G	20331047	3	3	88	1	0	0	0	0	1	0	0	0	6628	275	10	4	726	4	GP2	16	20331047	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	287064	20331047	70023706	15481	23193											
UMOD	7369	broad.mit.edu	37	chr16	20355365	20355365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaccattggctgtagggCggtcttcaggctgactttca	12	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20355365C>T	ENST00000396134.2	-	7	1534	c.1411G>A	c.(1411-1413)Gcc>Acc	p.A471T	UMOD_ENST00000396142.2_Missense_Mutation_p.A438T|UMOD_ENST00000396138.4_Missense_Mutation_p.A487T|UMOD_ENST00000424589.1_Missense_Mutation_p.A471T|UMOD_ENST00000302509.4_Missense_Mutation_p.A438T|UMOD_ENST00000570689.1_Missense_Mutation_p.A438T	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	438	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCTGTAGGGCGGTCTTCAGG	0.542													False	0	True	16:20355365	0	T	20355365	C	T	20355365	3	4	88	1	0	0	0	0	1	0	0	0	17063	768	27	1	634	1	UMOD	16	20355365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24318	20355365	69999388	15482	23194											
PDILT	204474	broad.mit.edu	37	chr16	20384360	20384360	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttgtattcgatcacaaaatCtgtaaggtgctgttttatga	9	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20384360C>A	ENST00000302451.4	-	6	1014	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	256					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATCACAAAATCTGTAAGGTGC	0.443													False	0	False	16:20384360	0	A	20384360	C	A	20384360	3	1	88	1	0	0	0	0	1	0	0	0	11742	913	32	3	1016	3	PDILT	16	20384360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28995	20384360	69970393	15483	23195											
ACSM5	54988	broad.mit.edu	37	chr16	20422901	20422901	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagcacctctacctgttcCtcagaagatcgtggccacct	8	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20422901C>A	ENST00000331849.4	+	2	242	c.95C>A	c.(94-96)cCt>cAt	p.P32H	ACSM5_ENST00000575584.1_Missense_Mutation_p.P32H	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	32					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTACCTGTTCCTCAGAAGATC	0.577													False	0	False	16:20422901	0	A	20422901	C	A	20422901	3	1	88	1	0	0	0	0	1	0	0	0	187	681	24	3	97	3	ACSM5	16	20422901	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38541	20422901	69931852	15484	23196											
ACSM5	54988	broad.mit.edu	37	chr16	20430652	20430652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcaccagtgactccctagCtccaagggtggatgccatca	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20430652C>T	ENST00000331849.4	+	4	665	c.518C>T	c.(517-519)gCt>gTt	p.A173V	ACSM5_ENST00000575584.1_Missense_Mutation_p.A173V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	173					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GACTCCCTAGCTCCAAGGGTG	0.582													False	0	False	16:20430652	0	T	20430652	C	T	20430652	3	4	88	1	0	0	0	0	1	0	0	0	187	797	28	2	528	2	ACSM5	16	20430652	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7751	20430652	69924101	15485	23197											
ACSM5	54988	broad.mit.edu	37	chr16	20442373	20442373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggatccatggggaaggCgtccccaccctacgatgtgc	13	13	1	0	rs113178652	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20442373C>T	ENST00000331849.4	+	9	1331	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	395					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATGGGGAAGGCGTCCCCACCC	0.552													False	0	False	16:20442373	0	T	20442373	C	T	20442373	3	4	88	1	0	0	0	0	1	0	0	0	187	768	27	1	1214	1	ACSM5	16	20442373	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11721	20442373	69912380	15486	23198											
ACSM5	54988	broad.mit.edu	37	chr16	20448438	20448438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcacaggggaccgagctcGcatggacaaggatggctact	13	11	1	0	rs141553052	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20448438G>A	ENST00000331849.4	+	11	1520	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	458					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GACCGAGCTCGCATGGACAAG	0.478													False	0	False	16:20448438	0	A	20448438	G	A	20448438	3	1	88	1	0	0	0	0	1	0	0	0	187	1087	38	1	1411	1	ACSM5	16	20448438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6065	20448438	69906315	15487	23199											
ACSM2A	123876	broad.mit.edu	37	chr16	20476939	20476939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgaaaacagccagcaggCagccaacgtcctctcgggag	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20476939C>T	ENST00000573854.1	+	3	392	c.278C>T	c.(277-279)gCa>gTa	p.A93V	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A93V|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A93V|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A14V|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A93V	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	93					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCCAGCAGGCAGCCAACGTC	0.612													False	0	True	16:20476939	0	T	20476939	C	T	20476939	3	4	88	1	0	0	0	0	1	0	0	0	183	710	25	2	284	2	ACSM2A	16	20476939	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28501	20476939	69877814	15488	23200											
ACSM2B	348158	broad.mit.edu	37	chr16	20559396	20559396	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaggtaccgtttctgtctgGccatagaattctcggatgtc	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20559396G>T	ENST00000329697.6	-	8	1254	c.1086C>A	c.(1084-1086)ggC>ggA	p.G362G	ACSM2B_ENST00000565232.1_Silent_p.G362G|ACSM2B_ENST00000567001.1_Silent_p.G362G|ACSM2B_ENST00000565322.1_Silent_p.G283G|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	362					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTTCTGTCTGGCCATAGAATT	0.507													False	0	True	16:20559396	0	T	20559396	G	T	20559396	2	4	88	1	0	0	0	0	0	0	0	1	184	1190	42	3		3	ACSM2B	16	20559396	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82457	20559396	69795357	15489	23201											
ACSM2B	348158	broad.mit.edu	37	chr16	20570669	20570669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgagaggatgttggctGcctgctggctgttttcactc	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20570669G>A	ENST00000329697.6	-	3	446	c.278C>T	c.(277-279)gCa>gTa	p.A93V	ACSM2B_ENST00000565232.1_Missense_Mutation_p.A93V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A93V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A14V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.A93V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	93					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GATGTTGGCTGCCTGCTGGCT	0.602													False	0	True	16:20570669	0	A	20570669	G	A	20570669	3	1	88	1	0	0	0	0	1	0	0	0	184	1319	46	2	1503	2	ACSM2B	16	20570669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11273	20570669	69784084	15490	23202											
ACSM1	116285	broad.mit.edu	37	chr16	20681260	20681260	+	Silent	SNP	C	C	T													gccacaatccatcctgagtcCgacaggcaccaggagacatc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20681260C>T	ENST00000307493.4	-	5	868	c.801G>A	c.(799-801)tcG>tcA	p.S267S	ACSM1_ENST00000520010.1_Silent_p.S267S|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	267					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.S267S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						ATCCTGAGTCCGACAGGCACC	0.502													False	0	False	16:20681260	0	T	20681260	C	T	20681260	2	4	88	1	0	0	0	0	0	0	0	1	182	639	23	1		1	ACSM1	16	20681260	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110591	20681260	69673493	15491	23203	249	2									
ACSM1	116285	broad.mit.edu	37	chr16	20681265	20681265	+	Translation_Start_Site	SNP	G	G	T													aatccatcctgagtccgacaGgcaccaggagacatcagatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20681265G>T	ENST00000219151.4	-	0	863				ACSM1_ENST00000307493.4_Missense_Mutation_p.L266M|ACSM1_ENST00000520010.1_Missense_Mutation_p.L266M			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GAGTCCGACAGGCACCAGGAG	0.507													False	0	False	16:20681265	0	T	20681265	G	T	20681265	1	4	88	1	0	0	0	0	0	0	0	0	182	991	35	3		3	ACSM1	16	20681265	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	20681265	69673488	15492	23204	249	2									
ACSM3	6296	broad.mit.edu	37	chr16	20787326	20787326	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtaattctgattctgcccAgggtcccagagtggtggctt	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20787326A>G	ENST00000289416.5	+	3	860	c.385A>G	c.(385-387)Agg>Ggg	p.R129G	ACSM3_ENST00000450120.2_Missense_Mutation_p.R84G|ACSM3_ENST00000440284.2_Missense_Mutation_p.R129G	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	129					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GATTCTGCCCAGGGTCCCAGA	0.448													False	0	True	16:20787326	0	G	20787326	A	G	20787326	3	3	88	1	0	0	0	0	1	0	0	0	185	179	7	4	391	4	ACSM3	16	20787326	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	106061	20787326	69567427	15493	23205											
DCUN1D3	123879	broad.mit.edu	37	chr16	20871273	20871273	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcacctctcccttccccttCtcttttccttcgctccattt	2	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20871273C>T	ENST00000324344.4	-	3	1135	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.E284K	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3						negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CCTTCCCCTTCTCTTTTCCTT	0.567													False	0	False	16:20871273	0	T	20871273	C	T	20871273	3	4	88	1	0	0	0	0	1	0	0	0	4340	922	32	2	68	2	DCUN1D3	16	20871273	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83947	20871273	69483480	15494	23206											
DNAH3	55567	broad.mit.edu	37	chr16	20959914	20959914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaagtgacagcaggagaCgccggtctttgtcatcagtc	12	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20959914C>T	ENST00000261383.3	-	57	11233	c.11234G>A	c.(11233-11235)cGt>cAt	p.R3745H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3745					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGCAGGAGACGCCGGTCTTT	0.517													False	0	False	16:20959914	0	T	20959914	C	T	20959914	3	4	88	1	0	0	0	0	1	0	0	0	4633	536	19	1	1139	1	DNAH3	16	20959914	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88641	20959914	69394839	15495	23207											
DNAH3	55567	broad.mit.edu	37	chr16	20966215	20966215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcttttgccacatcaccGcctttgcacagctttggaag	7	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20966215G>A	ENST00000261383.3	-	55	10990	c.10991C>T	c.(10990-10992)gCg>gTg	p.A3664V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3664	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCACATCACCGCCTTTGCACA	0.527													False	0	False	16:20966215	0	A	20966215	G	A	20966215	3	1	88	1	0	0	0	0	1	0	0	0	4633	1087	38	1	1390	1	DNAH3	16	20966215	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6301	20966215	69388538	15496	23208											
DNAH3	55567	broad.mit.edu	37	chr16	20974849	20974849	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcctcatggggccaggCcgagtcatagatcagcttcc	11	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20974849C>A	ENST00000261383.3	-	53	10356	c.10357G>T	c.(10357-10359)Gcc>Tcc	p.A3453S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3453					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGGGCCAGGCCGAGTCATAG	0.527													False	0	False	16:20974849	0	A	20974849	C	A	20974849	3	1	88	1	0	0	0	0	1	0	0	0	4633	739	26	3	2032	3	DNAH3	16	20974849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8634	20974849	69379904	15497	23209											
DNAH3	55567	broad.mit.edu	37	chr16	20975154	20975154	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgctcagggtgaaatggTcaatgatgtacttgatgcgc	13	6	2	4	rs143271654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20975154T>C	ENST00000261383.3	-	53	10051	c.10052A>G	c.(10051-10053)gAc>gGc	p.D3351G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3351					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTGAAATGGTCAATGATGTA	0.473													False	0	False	16:20975154	0	C	20975154	T	C	20975154	3	2	88	1	0	0	0	0	1	0	0	0	4633	1667	58	4	2337	4	DNAH3	16	20975154	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	305	20975154	69379599	15498	23210											
DNAH3	55567	broad.mit.edu	37	chr16	20975642	20975642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgaagttgaggagacagacCttcacggcaacttctgggag	13	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20975642C>A	ENST00000261383.3	-	53	9563	c.9564G>T	c.(9562-9564)aaG>aaT	p.K3188N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3188	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGAGACAGACCTTCACGGCAA	0.473													False	0	True	16:20975642	0	A	20975642	C	A	20975642	3	1	88	1	0	0	0	0	1	0	0	0	4633	680	24	3	2825	3	DNAH3	16	20975642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	488	20975642	69379111	15499	23211											
DNAH3	55567	broad.mit.edu	37	chr16	20976326	20976326	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctgaccagcttttgggaGcagatttcaatgttttcctc	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20976326G>T	ENST00000261383.3	-	53	8879	c.8880C>A	c.(8878-8880)tgC>tgA	p.C2960*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2960	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTTTTGGGAGCAGATTTCAA	0.517													False	0	False	16:20976326	0	T	20976326	G	T	20976326	4	4	88	1	0	0	0	0	0	1	0	0	4633	963	34	3	3509	3	DNAH3	16	20976326	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	684	20976326	69378427	15500	23212											
DNAH3	55567	broad.mit.edu	37	chr16	21049222	21049222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagcacagacttgacagcgCgcataccgtagtcatagtga	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21049222C>T	ENST00000261383.3	-	34	4810	c.4811G>A	c.(4810-4812)cGc>cAc	p.R1604H	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1604H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1604	AAA 1 (By similarity).			YGMR -> FGLH (in Ref. 5; CAB06059).	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGACAGCGCGCATACCGTA	0.522													False	0	True	16:21049222	0	T	21049222	C	T	21049222	3	4	88	1	0	0	0	0	1	0	0	0	4633	768	27	1	7654	1	DNAH3	16	21049222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72896	21049222	69305531	15501	23213											
DNAH3	55567	broad.mit.edu	37	chr16	21098312	21098312	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacaaggtcttgatcagtTtatacgttgtcctccacata	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21098312T>G	ENST00000261383.3	-	19	2734	c.2735A>C	c.(2734-2736)aAa>aCa	p.K912T	DNAH3_ENST00000415178.1_Missense_Mutation_p.K912T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	912	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGATCAGTTTATACGTTGT	0.463													False	0	True	16:21098312	0	G	21098312	T	G	21098312	3	3	88	1	0	0	0	0	1	0	0	0	4633	1841	64	4	9790	4	DNAH3	16	21098312	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49090	21098312	69256441	15502	23214											
TMEM159	57146	broad.mit.edu	37	chr16	21181905	21181905	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaccaccctggctgctctgCtgggggtcataatattggaa	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21181905C>A	ENST00000233047.4	+	3	712	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	TMEM159_ENST00000451578.2_Missense_Mutation_p.L106M|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572599.1_Missense_Mutation_p.L82M|TMEM159_ENST00000261388.3_Missense_Mutation_p.L82M|TMEM159_ENST00000572258.1_Missense_Mutation_p.L82M			Q96B96	TM159_HUMAN	transmembrane protein 159	82						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		GGCTGCTCTGCTGGGGGTCAT	0.458													False	0	True	16:21181905	0	A	21181905	C	A	21181905	3	1	88	1	0	0	0	0	1	0	0	0	16156	796	28	3	250	3	TMEM159	16	21181905	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83593	21181905	69172848	15503	23215											
ANKS4B	257629	broad.mit.edu	37	chr16	21261844	21261844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagggtgcagctgatgaagaGggagaggaaaacggcctcaa	17	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21261844G>T	ENST00000311620.5	+	2	1030	c.957G>T	c.(955-957)gaG>gaT	p.E319D		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	319										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGATGAAGAGGGAGAGGAAA	0.507													False	0	True	16:21261844	0	T	21261844	G	T	21261844	3	4	88	1	0	0	0	0	1	0	0	0	691	991	35	3	963	3	ANKS4B	16	21261844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79939	21261844	69092909	15504	23216											
OTOA	146183	broad.mit.edu	37	chr16	21721387	21721387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggttgggccaagagccaggTcatcatcttgtctgccaaat	11	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21721387T>C	ENST00000388958.3	+	12	1284	c.1283T>C	c.(1282-1284)gTc>gCc	p.V428A	OTOA_ENST00000388956.4_Missense_Mutation_p.V349A|OTOA_ENST00000286149.4_Missense_Mutation_p.V442A|OTOA_ENST00000388957.3_Missense_Mutation_p.V104A	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	442					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AAGAGCCAGGTCATCATCTTG	0.512													False	0	False	16:21721387	0	C	21721387	T	C	21721387	3	2	88	1	0	0	0	0	1	0	0	0	11370	1667	58	4	1375	4	OTOA	16	21721387	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	459543	21721387	68633366	15505	23217											
OTOA	146183	broad.mit.edu	37	chr16	21739636	21739636	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacttgccggcagccatcatCgacagggggatctcccccag	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21739636C>T	ENST00000388958.3	+	19	2092	c.2091C>T	c.(2089-2091)atC>atT	p.I697I	OTOA_ENST00000388956.4_Silent_p.I618I|OTOA_ENST00000286149.4_Silent_p.I711I|OTOA_ENST00000388957.3_Silent_p.I373I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	711					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGCCATCATCGACAGGGGGA	0.582													False	0	False	16:21739636	0	T	21739636	C	T	21739636	2	4	88	1	0	0	0	0	0	0	0	1	11370	874	31	1		1	OTOA	16	21739636	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18249	21739636	68615117	15506	23218											
VWA3A	146177	broad.mit.edu	37	chr16	22142594	22142594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacaacaatttacaaagtgCctggcggtaggttatgggca	11	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22142594C>T	ENST00000389398.5	+	18	1817	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	574	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TTACAAAGTGCCTGGCGGTAG	0.498													False	0	False	16:22142594	0	T	22142594	C	T	22142594	3	4	88	1	0	0	0	0	1	0	0	0	17324	739	26	2	1791	2	VWA3A	16	22142594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	402958	22142594	68212159	15507	23219											
VWA3A	146177	broad.mit.edu	37	chr16	22163834	22163834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcccttccttccagagCggcggttgagttcctgagaa	11	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22163834C>T	ENST00000389397.4	+	32	3452	c.590C>T	c.(589-591)gCg>gTg	p.A197V	VWA3A_ENST00000563755.1_Missense_Mutation_p.A197V|VWA3A_ENST00000389398.5_Missense_Mutation_p.A1095V			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1095						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTTCCAGAGCGGCGGTTGAG	0.587													False	0	False	16:22163834	0	T	22163834	C	T	22163834	3	4	88	1	0	0	0	0	1	0	0	0	17324	768	27	1	3406	1	VWA3A	16	22163834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21240	22163834	68190919	15508	23220											
EEF2K	29904	broad.mit.edu	37	chr16	22268113	22268113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgagctgaaggacagaccGggcaagcccctcttccacct	10	15	1	2	rs112106407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22268113G>A	ENST00000263026.5	+	7	1137	c.663G>A	c.(661-663)ccG>ccA	p.P221P		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	221	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AGGACAGACCGGGCAAGCCCC	0.597													False	0	True	16:22268113	0	A	22268113	G	A	22268113	2	1	88	1	0	0	0	0	0	0	0	1	4960	1103	39	1		1	EEF2K	16	22268113	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104279	22268113	68086640	15509	23221											
POLR3E	55718	broad.mit.edu	37	chr16	22320292	22320292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaaccccaactattgccGcagcaaaggggagcagattg	11	12	0	2	rs145630346	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22320292G>A	ENST00000299853.5	+	5	379	c.212G>A	c.(211-213)cGc>cAc	p.R71H	POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000418581.2_Missense_Mutation_p.R35H|POLR3E_ENST00000564209.1_Missense_Mutation_p.R71H|POLR3E_ENST00000359210.4_Missense_Mutation_p.R71H	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	71					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AACTATTGCCGCAGCAAAGGG	0.617													False	0	False	16:22320292	0	A	22320292	G	A	22320292	3	1	88	1	0	0	0	0	1	0	0	0	12301	1087	38	1	226	1	POLR3E	16	22320292	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52179	22320292	68034461	15510	23222											
POLR3E	55718	broad.mit.edu	37	chr16	22324989	22324989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctgcagctgcggcccaGcttctcctacctggataagg	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22324989G>A	ENST00000299853.5	+	7	580	c.413G>A	c.(412-414)aGc>aAc	p.S138N	POLR3E_ENST00000418581.2_Missense_Mutation_p.S102N|POLR3E_ENST00000564209.1_Missense_Mutation_p.S138N|POLR3E_ENST00000359210.4_Missense_Mutation_p.S138N	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	138					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CTGCGGCCCAGCTTCTCCTAC	0.627													False	0	False	16:22324989	0	A	22324989	G	A	22324989	3	1	88	1	0	0	0	0	1	0	0	0	12301	971	34	2	435	2	POLR3E	16	22324989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4697	22324989	68029764	15511	23223											
POLR3E	55718	broad.mit.edu	37	chr16	22328345	22328345	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgatgctgatgccacccaGccaggaggaggagaagtgag	16	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22328345G>T	ENST00000299853.5	+	11	925	c.758G>T	c.(757-759)aGc>aTc	p.S253I	POLR3E_ENST00000418581.2_Missense_Mutation_p.S217I|POLR3E_ENST00000564209.1_Missense_Mutation_p.S253I|POLR3E_ENST00000359210.4_Missense_Mutation_p.S253I	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	253					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ATGCCACCCAGCCAGGAGGAG	0.622													False	0	True	16:22328345	0	T	22328345	G	T	22328345	3	4	88	1	0	0	0	0	1	0	0	0	12301	971	34	3	796	3	POLR3E	16	22328345	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3356	22328345	68026408	15512	23224											
HS3ST2	9956	broad.mit.edu	37	chr16	22826268	22826268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccaagctgggtaccaagCggttgccccaagccctcatt	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22826268C>T	ENST00000261374.3	+	1	771	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	113						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGGTACCAAGCGGTTGCCCCA	0.716													False	0	False	16:22826268	0	T	22826268	C	T	22826268	3	4	88	1	0	0	0	0	1	0	0	0	7411	759	27	1	339	1	HS3ST2	16	22826268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	497923	22826268	67528485	15513	23225											
HS3ST2	9956	broad.mit.edu	37	chr16	22926338	22926338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctactttgtcactcaagagGctcctcgacgcatcttcaac	7	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926338G>A	ENST00000261374.3	+	2	993	c.559G>A	c.(559-561)Gct>Act	p.A187T		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	187						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CACTCAAGAGGCTCCTCGACG	0.562													False	0	False	16:22926338	0	A	22926338	G	A	22926338	3	1	88	1	0	0	0	0	1	0	0	0	7411	1203	42	2	565	2	HS3ST2	16	22926338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100070	22926338	67428415	15514	23226											
HS3ST2	9956	broad.mit.edu	37	chr16	22926574	22926574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggctgcagtacttcccGctagctcagattcacttcgt	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926574G>A	ENST00000261374.3	+	2	1229	c.795G>A	c.(793-795)ccG>ccA	p.P265P		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	265						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGTACTTCCCGCTAGCTCAGA	0.607													False	0	True	16:22926574	0	A	22926574	G	A	22926574	2	1	88	1	0	0	0	0	0	0	0	1	7411	1074	38	1		1	HS3ST2	16	22926574	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236	22926574	67428179	15515	23227											
HS3ST2	9956	broad.mit.edu	37	chr16	22926592	22926592	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctagctcagattcacttCgtcagtggcgagcgactcat	10	13	4	1	rs144169281		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926592C>T	ENST00000261374.3	+	2	1247	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	271						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGATTCACTTCGTCAGTGGCG	0.582													False	0	False	16:22926592	0	T	22926592	C	T	22926592	2	4	88	1	0	0	0	0	0	0	0	1	7411	883	31	1		1	HS3ST2	16	22926592	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	22926592	67428161	15516	23228											
USP31	57478	broad.mit.edu	37	chr16	23080093	23080093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgacttctgcttctgtggCgaaggagatgacacggagtc	14	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23080093C>T	ENST00000219689.7	-	16	3332	c.3333G>A	c.(3331-3333)tcG>tcA	p.S1111S	USP31_ENST00000567975.1_Silent_p.S404S	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1111	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCTTCTGTGGCGAAGGAGATG	0.587													False	0	False	16:23080093	0	T	23080093	C	T	23080093	2	4	88	1	0	0	0	0	0	0	0	1	17146	755	27	1		1	USP31	16	23080093	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153501	23080093	67274660	15517	23229											
USP31	57478	broad.mit.edu	37	chr16	23093780	23093780	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccgaaatctctttagatgTataataagcacatcaggcag	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23093780T>C	ENST00000219689.7	-	12	1928	c.1929A>G	c.(1927-1929)atA>atG	p.I643M		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	643					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCTTTAGATGTATAATAAGCA	0.498													False	0	False	16:23093780	0	C	23093780	T	C	23093780	3	2	88	1	0	0	0	0	1	0	0	0	17146	1628	57	4	2149	4	USP31	16	23093780	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13687	23093780	67260973	15518	23230											
SCNN1G	6340	broad.mit.edu	37	chr16	23226069	23226069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgatattctacaaagaCctgaaccagagatccatcat	5	11	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23226069C>T	ENST00000300061.2	+	12	1673	c.1530C>T	c.(1528-1530)gaC>gaT	p.D510D		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	510					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCTACAAAGACCTGAACCAGA	0.493													False	0	False	16:23226069	0	T	23226069	C	T	23226069	2	4	88	1	0	0	0	0	0	0	0	1	14011	506	18	2		2	SCNN1G	16	23226069	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132289	23226069	67128684	15519	23231											
SCNN1B	0	broad.mit.edu	37	chr16	23364329	23364329	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttggagacaaccacaatggCttaacaagcagctcagcatc	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23364329C>A	ENST00000343070.2	+	3	695	c.519C>A	c.(517-519)ggC>ggA	p.G173G	SCNN1B_ENST00000568085.1_Silent_p.G173G|SCNN1B_ENST00000568923.1_Silent_p.G173G|SCNN1B_ENST00000307331.5_Silent_p.G218G	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	173					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACCACAATGGCTTAACAAGCA	0.502													False	0	False	16:23364329	0	A	23364329	C	A	23364329	2	1	88	1	0	0	0	0	0	0	0	1	14009	784	28	3		3	SCNN1B	16	23364329	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138260	23364329	66990424	15520	23232											
SCNN1B	0	broad.mit.edu	37	chr16	23382619	23382619	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccccaccctccccacaGgcctgaagttgatcctggac	7	19	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23382619G>A	ENST00000343070.2	+	6	1056		c.e6-1		SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit						excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCTCCCCACAGGCCTGAAGTT	0.622													False	0	False	16:23382619	0	A	23382619	G	A	23382619	5	1	88	1	0	0	0	0	0	0	1	0	14009	1014	35	2	898	2	SCNN1B	16	23382619	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18290	23382619	66972134	15521	23233											
COG7	91949	broad.mit.edu	37	chr16	23403772	23403772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggatcgcatcacagtagGtctgcattgtggctctggcg	14	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23403772G>A	ENST00000307149.5	-	16	2260	c.2075C>T	c.(2074-2076)aCc>aTc	p.T692I	COG7_ENST00000569635.1_Intron	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	692					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		ATCACAGTAGGTCTGCATTGT	0.577													False	0	False	16:23403772	0	A	23403772	G	A	23403772	3	1	88	1	0	0	0	0	1	0	0	0	3686	1261	44	2	245	2	COG7	16	23403772	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21153	23403772	66950981	15522	23234											
COG7	91949	broad.mit.edu	37	chr16	23430028	23430028	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgcgactttaccagaggcAcagcactcatctggatgagg	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23430028A>G	ENST00000307149.5	-	8	1315	c.1130T>C	c.(1129-1131)gTg>gCg	p.V377A		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	377					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TACCAGAGGCACAGCACTCAT	0.572													False	0	False	16:23430028	0	G	23430028	A	G	23430028	3	3	88	1	0	0	0	0	1	0	0	0	3686	159	6	4	1222	4	COG7	16	23430028	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26256	23430028	66924725	15523	23235											
EARS2	124454	broad.mit.edu	37	chr16	23555946	23555946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcttctgtggcctggGcatacagctccaaccgctga	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23555946G>A	ENST00000449606.1	-	3	405	c.374C>T	c.(373-375)gCc>gTc	p.A125V	EARS2_ENST00000564501.1_Missense_Mutation_p.A125V|EARS2_ENST00000564987.1_Intron|EARS2_ENST00000563232.1_Missense_Mutation_p.A125V|EARS2_ENST00000563459.1_Missense_Mutation_p.A125V	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	125					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TGTGGCCTGGGCATACAGCTC	0.632													False	0	True	16:23555946	0	A	23555946	G	A	23555946	3	1	88	1	0	0	0	0	1	0	0	0	4908	1203	42	2	1225	2	EARS2	16	23555946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125918	23555946	66798807	15524	23236											
PALB2	79728	broad.mit.edu	37	chr16	23641691	23641691	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttaaactcagcattccaTccctatgaaatggagccgtg	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23641691T>G	ENST00000261584.4	-	5	1936	c.1784A>C	c.(1783-1785)gAt>gCt	p.D595A		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	595					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGCATTCCATCCCTATGAAA	0.393			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					False	0	True	16:23641691	0	G	23641691	T	G	23641691	3	3	88	1	0	0	0	0	1	0	0	0	11474	1435	50	4	1812	4	PALB2	16	23641691	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	85745	23641691	66713062	15525	23237											
PALB2	79728	broad.mit.edu	37	chr16	23646945	23646945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggccacttttacttatagCtttatttacaaggaggttat	7	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23646945C>T	ENST00000261584.4	-	4	1074	c.922G>A	c.(922-924)Gct>Act	p.A308T		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	308	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTACTTATAGCTTTATTTACA	0.353			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					False	0	True	16:23646945	0	T	23646945	C	T	23646945	3	4	88	1	0	0	0	0	1	0	0	0	11474	797	28	2	2678	2	PALB2	16	23646945	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5254	23646945	66707808	15526	23238											
PALB2	79728	broad.mit.edu	37	chr16	23649187	23649187	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgagtgttttagctgCggtgagagatcctgctgaga	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23649187C>T	ENST00000261584.4	-	3	347	c.195G>A	c.(193-195)ccG>ccA	p.P65P		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	65	Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GTTTTAGCTGCGGTGAGAGAT	0.388			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					False	0	False	16:23649187	0	T	23649187	C	T	23649187	2	4	88	1	0	0	0	0	0	0	0	1	11474	755	27	1		1	PALB2	16	23649187	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2242	23649187	66705566	15527	23239											
PLK1	5347	broad.mit.edu	37	chr16	23693421	23693421	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaccaccttttgagacTtcttgcctaaaagagaccta	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23693421T>G	ENST00000300093.4	+	4	870	c.759T>G	c.(757-759)acT>acG	p.T253T		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	253	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CTTTTGAGACTTCTTGCCTAA	0.423													False	0	False	16:23693421	0	G	23693421	T	G	23693421	2	3	88	1	0	0	0	0	0	0	0	1	12163	1596	56	4		4	PLK1	16	23693421	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44234	23693421	66661332	15528	23240											
ERN2	10595	broad.mit.edu	37	chr16	23702279	23702279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagcagccgtgggaagCggtttgtgaagtactggacg	19	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23702279C>T	ENST00000256797.4	-	22	2966	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H	ERN2_ENST00000457008.2_Missense_Mutation_p.R833H	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	885					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCGTGGGAAGCGGTTTGTGAA	0.617													False	0	False	16:23702279	0	T	23702279	C	T	23702279	3	4	88	1	0	0	0	0	1	0	0	0	5270	768	27	1	130	1	ERN2	16	23702279	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8858	23702279	66652474	15529	23241											
ERN2	10595	broad.mit.edu	37	chr16	23706195	23706195	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcaccactctgcccaggcCctggctgtcaggcccggtga	13	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23706195C>A	ENST00000256797.4	-	17	2266	c.2098G>T	c.(2098-2100)Ggc>Tgc	p.G700C	ERN2_ENST00000457008.2_Missense_Mutation_p.G600C	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	652	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGCCCAGGCCCTGGCTGTCA	0.632													False	0	True	16:23706195	0	A	23706195	C	A	23706195	3	1	88	1	0	0	0	0	1	0	0	0	5270	623	22	3	850	3	ERN2	16	23706195	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3916	23706195	66648558	15530	23242											
ERN2	10595	broad.mit.edu	37	chr16	23713497	23713497	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaagaaggctggggcctgGgtattctctggaggtcttgt	16	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23713497G>T	ENST00000256797.4	-	11	1491	c.1323C>A	c.(1321-1323)acC>acA	p.T441T	ERN2_ENST00000457008.2_Silent_p.T393T	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	393					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGGGGCCTGGGTATTCTCTG	0.607													False	0	True	16:23713497	0	T	23713497	G	T	23713497	2	4	88	1	0	0	0	0	0	0	0	1	5270	1219	43	3		3	ERN2	16	23713497	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7302	23713497	66641256	15531	23243											
CHP2	63928	broad.mit.edu	37	chr16	23767434	23767434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtcttggctcattttcGccctgtagaagatgaggaca	12	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23767434G>A	ENST00000300113.2	+	4	695	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	91	EF-hand 2.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCTCATTTTCGCCCTGTAGAA	0.527													False	0	True	16:23767434	0	A	23767434	G	A	23767434	3	1	88	1	0	0	0	0	1	0	0	0	3390	1087	38	1	286	1	CHP2	16	23767434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53937	23767434	66587319	15532	23244											
PRKCB	5579	broad.mit.edu	37	chr16	23847551	23847551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcgaggagagcaccgtgCgcttcgcccgcaaaggcgcc	16	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23847551C>T	ENST00000303531.7	+	1	207	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	PRKCB_ENST00000321728.7_Missense_Mutation_p.R19C|PRKCB_ENST00000498058.1_Missense_Mutation_p.R19C	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	19					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAGCACCGTGCGCTTCGCCCG	0.706													False	0	False	16:23847551	0	T	23847551	C	T	23847551	3	4	88	1	0	0	0	0	1	0	0	0	12584	768	27	1	57	1	PRKCB	16	23847551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80117	23847551	66507202	15533	23245											
PRKCB	5579	broad.mit.edu	37	chr16	24192159	24192159	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gattctgagggacacatcaaGattgccgattttggcatgtg	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24192159G>T	ENST00000303531.7	+	13	1595	c.1443G>T	c.(1441-1443)aaG>aaT	p.K481N	PRKCB_ENST00000321728.7_Missense_Mutation_p.K481N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	481	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GACACATCAAGATTGCCGATT	0.453													False	0	False	16:24192159	0	T	24192159	G	T	24192159	3	4	88	1	0	0	0	0	1	0	0	0	12584	933	33	3	1493	3	PRKCB	16	24192159	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	344608	24192159	66162594	15534	23246											
PRKCB	5579	broad.mit.edu	37	chr16	24226007	24226007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaatgctgaaaacttcgaccGatttttcacccgccatccac	5	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24226007G>A	ENST00000303531.7	+	17	2044	c.1892G>A	c.(1891-1893)cGa>cAa	p.R631Q	PRKCB_ENST00000321728.7_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	632	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AACTTCGACCGATTTTTCACC	0.423													False	0	False	16:24226007	0	A	24226007	G	A	24226007	3	1	88	1	0	0	0	0	1	0	0	0	12584	1058	37	1	1958	1	PRKCB	16	24226007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33848	24226007	66128746	15535	23247											
RBBP6	5930	broad.mit.edu	37	chr16	24560342	24560342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacactttttctacacattgCttttacctttataatgtagc	3	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24560342C>A	ENST00000452655.2	+	3	474	c.343C>A	c.(343-345)Ctt>Att	p.L115I	RBBP6_ENST00000319715.4_Intron|RBBP6_ENST00000348022.2_Intron|RBBP6_ENST00000381039.3_Intron	NM_032626.5	NP_116015.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CTACACATTGCTTTTACCTTT	0.294													False	0	True	16:24560342	0	A	24560342	C	A	24560342	3	1	88	1	0	0	0	0	1	0	0	0	13182	797	28	3	353	3	RBBP6	16	24560342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334335	24560342	65794411	15536	23248											
RBBP6	5930	broad.mit.edu	37	chr16	24574565	24574565	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagctcttgcatcagaGcactcaaagggaacctcctc	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24574565G>T	ENST00000319715.4	+	11	1767	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D	RBBP6_ENST00000348022.2_Missense_Mutation_p.E445D|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	445					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTGCATCAGAGCACTCAAAGG	0.328													False	0	False	16:24574565	0	T	24574565	G	T	24574565	3	4	88	1	0	0	0	0	1	0	0	0	13182	962	34	3	1431	3	RBBP6	16	24574565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14223	24574565	65780188	15537	23249											
RBBP6	5930	broad.mit.edu	37	chr16	24581479	24581479	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgaagaaaaaggcgtAgataaagattttgagtcttc	9	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24581479A>G	ENST00000319715.4	+	17	3900	c.3468A>G	c.(3466-3468)gtA>gtG	p.V1156V	RBBP6_ENST00000348022.2_Silent_p.V1122V|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1156					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAAAAGGCGTAGATAAAGATT	0.338													False	0	False	16:24581479	0	G	24581479	A	G	24581479	2	3	88	1	0	0	0	0	0	0	0	1	13182	407	15	4		4	RBBP6	16	24581479	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6914	24581479	65773274	15538	23250											
RBBP6	5930	broad.mit.edu	37	chr16	24581622	24581622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacaaaatttctttaagtgCgccagccaaaaaaatcaaac	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24581622C>T	ENST00000319715.4	+	17	4043	c.3611C>T	c.(3610-3612)gCg>gTg	p.A1204V	RBBP6_ENST00000348022.2_Missense_Mutation_p.A1170V|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1204					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.A1204V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCTTTAAGTGCGCCAGCCAAA	0.368													False	0	True	16:24581622	0	T	24581622	C	T	24581622	3	4	88	1	0	0	0	0	1	0	0	0	13182	768	27	1	3731	1	RBBP6	16	24581622	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143	24581622	65773131	15539	23251											
TNRC6A	27327	broad.mit.edu	37	chr16	24788479	24788479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagccacaggccttgcCtcggtatcctcgtgaagtac	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24788479C>A	ENST00000395799.3	+	5	518	c.389C>A	c.(388-390)cCt>cAt	p.P130H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P130H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	130					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		cagGCCTTGCCTCGGTATCCT	0.587													False	0	False	16:24788479	0	A	24788479	C	A	24788479	3	1	88	1	0	0	0	0	1	0	0	0	16422	681	24	3	407	3	TNRC6A	16	24788479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206857	24788479	65566274	15540	23252											
TNRC6A	27327	broad.mit.edu	37	chr16	24831545	24831545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgtggaaggtccctttGccacctaaaaacatcactgc	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24831545G>A	ENST00000395799.3	+	22	5295	c.5166G>A	c.(5164-5166)ttG>ttA	p.L1722L	TNRC6A_ENST00000432286.2_Silent_p.L200L|TNRC6A_ENST00000315183.7_Silent_p.L1673L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1722	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AGGTCCCTTTGCCACCTAAAA	0.517													False	0	True	16:24831545	0	A	24831545	G	A	24831545	2	1	88	1	0	0	0	0	0	0	0	1	16422	1310	46	2		2	TNRC6A	16	24831545	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43066	24831545	65523208	15541	23253											
SLC5A11	115584	broad.mit.edu	37	chr16	24922842	24922842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccatctttatctggggCtattttgcttagtgtggggt	13	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24922842C>T	ENST00000347898.3	+	16	2638	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	SLC5A11_ENST00000424767.2_Silent_p.G637G|SLC5A11_ENST00000567758.1_Silent_p.G637G|SLC5A11_ENST00000449109.2_Silent_p.G516G|SLC5A11_ENST00000565769.1_Silent_p.G608G|SLC5A11_ENST00000569071.1_Silent_p.G516G|SLC5A11_ENST00000545376.1_Silent_p.G602G|SLC5A11_ENST00000539472.1_Silent_p.G608G|SLC5A11_ENST00000568579.1_Silent_p.G602G	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	672					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTATCTGGGGCTATTTTGCTT	0.438													False	0	True	16:24922842	0	T	24922842	C	T	24922842	2	4	88	1	0	0	0	0	0	0	0	1	14743	784	28	2		2	SLC5A11	16	24922842	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91297	24922842	65431911	15542	23254											
ARHGAP17	55114	broad.mit.edu	37	chr16	24931466	24931466	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttcttcacagggcagtgctCtcggtatcattgtctatatc	8	10	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24931466C>A	ENST00000289968.6	-	20	2700	c.2631G>T	c.(2629-2631)gaG>gaT	p.E877D	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E799D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	877					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGGCAGTGCTCTCGGTATCAT	0.557													False	0	False	16:24931466	0	A	24931466	C	A	24931466	3	1	88	1	0	0	0	0	1	0	0	0	869	912	32	3	18	3	ARHGAP17	16	24931466	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8624	24931466	65423287	15543	23255											
ARHGAP17	55114	broad.mit.edu	37	chr16	24942726	24942726	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagcgggttttttaacagCtgcacaaaaagagaaaaaac	10	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24942726C>A	ENST00000289968.6	-	19	1964		c.e19-1		ARHGAP17_ENST00000441763.2_Splice_Site|ARHGAP17_ENST00000303665.5_Splice_Site	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTTTTAACAGCTGCACAAaaa	0.537													False	0	False	16:24942726	0	A	24942726	C	A	24942726	5	1	88	1	0	0	0	0	0	0	1	0	869	811	28	3	759	3	ARHGAP17	16	24942726	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11260	24942726	65412027	15544	23256											
ARHGAP17	55114	broad.mit.edu	37	chr16	24946886	24946886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctggggctgattttggCcagatgctatctgactgttg	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24946886C>T	ENST00000289968.6	-	18	1868	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.G522D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	600	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTGATTTTGGCCAGATGCTAT	0.567													False	0	False	16:24946886	0	T	24946886	C	T	24946886	3	4	88	1	0	0	0	0	1	0	0	0	869	739	26	2	858	2	ARHGAP17	16	24946886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4160	24946886	65407867	15545	23257											
ARHGAP17	55114	broad.mit.edu	37	chr16	24958811	24958811	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagatgacttacccttcattTctggcccataacaagttagg	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24958811T>C	ENST00000289968.6	-	14	1302	c.1233A>G	c.(1231-1233)agA>agG	p.R411R	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.R411R	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	411	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACCCTTCATTTCTGGCCCATA	0.403													False	0	True	16:24958811	0	C	24958811	T	C	24958811	2	2	88	1	0	0	0	0	0	0	0	1	869	1780	62	4		4	ARHGAP17	16	24958811	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11925	24958811	65395942	15546	23258											
LCMT1	51451	broad.mit.edu	37	chr16	25143812	25143812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaattgtcaaccttgggGcaggcatggataccaccttc	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25143812G>A	ENST00000399069.3	+	3	450	c.295G>A	c.(295-297)Gca>Aca	p.A99T	LCMT1_ENST00000380966.4_Missense_Mutation_p.A99T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	99							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CAACCTTGGGGCAGGCATGGA	0.433													False	0	True	16:25143812	0	A	25143812	G	A	25143812	3	1	88	1	0	0	0	0	1	0	0	0	8729	1203	42	2	305	2	LCMT1	16	25143812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	185001	25143812	65210941	15547	23259											
LCMT1	51451	broad.mit.edu	37	chr16	25189343	25189343	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaggagataacttattAatctgtcgaaggcttatgcc	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25189343A>G	ENST00000399069.3	+	11	1159	c.1004A>G	c.(1003-1005)tAa>tGa	p.*335*	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.*280*	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	0							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	ATAACTTATTAATCTGTCGAA	0.607													False	0	False	16:25189343	0	G	25189343	A	G	25189343	2	3	88	1	0	0	0	0	0	0	0	1	8729	369	13	4		4	LCMT1	16	25189343	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	45531	25189343	65165410	15548	23260											
AQP8	343	broad.mit.edu	37	chr16	25228637	25228637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtctggtcgaactgctggGctctgctctcttcatcttca	9	12	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25228637G>A	ENST00000219660.5	+	2	256	c.131G>A	c.(130-132)gGc>gAc	p.G44D	AQP8_ENST00000566125.1_Missense_Mutation_p.G38D	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	44					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GAACTGCTGGGCTCTGCTCTC	0.622													False	0	True	16:25228637	0	A	25228637	G	A	25228637	3	1	88	1	0	0	0	0	1	0	0	0	834	1203	42	2	137	2	AQP8	16	25228637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39294	25228637	65126116	15549	23261											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251325	25251325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctccagtgtgtattctccGatgttctcgaaatctcgtac	7	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25251325G>A	ENST00000328086.7	-	7	3519	c.2716C>T	c.(2716-2718)Cgg>Tgg	p.R906W		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	906					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTATTCTCCGATGTTCTCGA	0.458													False	0	False	16:25251325	0	A	25251325	G	A	25251325	3	1	88	1	0	0	0	0	1	0	0	0	17770	1057	37	1	191	1	ZKSCAN2	16	25251325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22688	25251325	65103428	15550	23262											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251415	25251415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgaactctccggtgggCgctgaaatgagaactgttgg	15	7	1	3	rs146263630	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25251415C>T	ENST00000328086.7	-	7	3429	c.2626G>A	c.(2626-2628)Gcc>Acc	p.A876T		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	876					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTCCGGTGGGCGCTGAAATGA	0.453													False	0	True	16:25251415	0	T	25251415	C	T	25251415	3	4	88	1	0	0	0	0	1	0	0	0	17770	768	27	1	281	1	ZKSCAN2	16	25251415	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90	25251415	65103338	15551	23263											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25255541	25255541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaagcgcttcataaaaccGagtctcacggaggatatcaa	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25255541G>A	ENST00000328086.7	-	6	2349	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	516					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCATAAAACCGAGTCTCACGG	0.483													False	0	False	16:25255541	0	A	25255541	G	A	25255541	3	1	88	1	0	0	0	0	1	0	0	0	17770	1057	37	1	1365	1	ZKSCAN2	16	25255541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4126	25255541	65099212	15552	23264											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25258585	25258585	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagggacctgaatagcatgaActgacttttccttgacgtag	10	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25258585A>C	ENST00000328086.7	-	5	1735	c.932T>G	c.(931-933)gTt>gGt	p.V311G		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	311					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AATAGCATGAACTGACTTTTC	0.473													False	0	False	16:25258585	0	C	25258585	A	C	25258585	3	2	88	1	0	0	0	0	1	0	0	0	17770	43	2	4	1983	4	ZKSCAN2	16	25258585	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3044	25258585	65096168	15553	23265											
IL4R	3566	broad.mit.edu	37	chr16	27373988	27373988	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccaccttcgggaagtAcgagtgctcacatgccctgg	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27373988A>G	ENST00000395762.2	+	11	1574	c.1315A>G	c.(1315-1317)Acg>Gcg	p.T439A	IL4R_ENST00000543915.2_Missense_Mutation_p.T439A|IL4R_ENST00000170630.2_Missense_Mutation_p.T439A|IL4R_ENST00000380922.3_Missense_Mutation_p.T424A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	439	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCGGGAAGTACGAGTGCTCA	0.612													False	0	False	16:27373988	0	G	27373988	A	G	27373988	3	3	88	1	0	0	0	0	1	0	0	0	7748	391	14	4	1367	4	IL4R	16	27373988	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2115403	27373988	62980765	15554	23266											
IL21R	50615	broad.mit.edu	37	chr16	27460438	27460438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggctcacccctggccgGcctggatatggacacgtttg	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27460438G>A	ENST00000337929.3	+	9	1924	c.1451G>A	c.(1450-1452)gGc>gAc	p.G484D	IL21R_ENST00000395754.4_Missense_Mutation_p.G484D|IL21R_ENST00000564089.1_Missense_Mutation_p.G484D|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Missense_Mutation_p.G484D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	484			G -> S (in dbSNP:rs3093386).		natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCCCTGGCCGGCCTGGATATG	0.677			T	BCL6	NHL								False	0	True	16:27460438	0	A	27460438	G	A	27460438	3	1	88	1	0	0	0	0	1	0	0	0	7721	1203	42	2	1481	2	IL21R	16	27460438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86450	27460438	62894315	15555	23267											
GTF3C1	2975	broad.mit.edu	37	chr16	27473805	27473805	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcagacactctcacagTccctgcagggagagggcttg	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27473805T>C	ENST00000356183.4	-	36	5942	c.5927A>G	c.(5926-5928)gAc>gGc	p.D1976G	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1951G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1976						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACTCTCACAGTCCCTGCAGGG	0.627													False	0	True	16:27473805	0	C	27473805	T	C	27473805	3	2	88	1	0	0	0	0	1	0	0	0	6919	1667	58	4	410	4	GTF3C1	16	27473805	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13367	27473805	62880948	15556	23268											
GTF3C1	2975	broad.mit.edu	37	chr16	27481690	27481690	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgactccgtgcagatgGtgcttggaaatcgccacgta	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27481690G>T	ENST00000356183.4	-	31	4568	c.4553C>A	c.(4552-4554)aCc>aAc	p.T1518N	GTF3C1_ENST00000561623.1_Missense_Mutation_p.T1518N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1518						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CGTGCAGATGGTGCTTGGAAA	0.498													False	0	False	16:27481690	0	T	27481690	G	T	27481690	3	4	88	1	0	0	0	0	1	0	0	0	6919	1261	44	3	1804	3	GTF3C1	16	27481690	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7885	27481690	62873063	15557	23269											
GTF3C1	2975	broad.mit.edu	37	chr16	27495625	27495625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagactcttcaaacgtgGcatgcaaaatgtcccgtacc	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27495625G>A	ENST00000356183.4	-	25	3923	c.3908C>T	c.(3907-3909)gCc>gTc	p.A1303V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.A1303V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1303						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCAAACGTGGCATGCAAAAT	0.468													False	0	False	16:27495625	0	A	27495625	G	A	27495625	3	1	88	1	0	0	0	0	1	0	0	0	6919	1203	42	2	2473	2	GTF3C1	16	27495625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13935	27495625	62859128	15558	23270											
GTF3C1	2975	broad.mit.edu	37	chr16	27500951	27500951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcatggcgcacttgcGctccaggttgtgcttgtcca	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27500951G>A	ENST00000356183.4	-	20	3280	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1089C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1089						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCGCACTTGCGCTCCAGGTTG	0.667													False	0	False	16:27500951	0	A	27500951	G	A	27500951	3	1	88	1	0	0	0	0	1	0	0	0	6919	1087	38	1	3136	1	GTF3C1	16	27500951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5326	27500951	62853802	15559	23271											
GTF3C1	2975	broad.mit.edu	37	chr16	27503771	27503771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccggctgctgcgggccagGttgtaatgtgggtcgcagat	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27503771G>A	ENST00000356183.4	-	19	3054	c.3039C>T	c.(3037-3039)aaC>aaT	p.N1013N	GTF3C1_ENST00000561623.1_Silent_p.N1013N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1013						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGCGGGCCAGGTTGTAATGTG	0.522													False	0	False	16:27503771	0	A	27503771	G	A	27503771	2	1	88	1	0	0	0	0	0	0	0	1	6919	1252	44	2		2	GTF3C1	16	27503771	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2820	27503771	62850982	15560	23272											
GTF3C1	2975	broad.mit.edu	37	chr16	27506672	27506672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgactcctgctttatcGttctccgttcactgatgaag	8	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27506672G>A	ENST00000356183.4	-	15	2507	c.2492C>T	c.(2491-2493)aCg>aTg	p.T831M	GTF3C1_ENST00000561623.1_Missense_Mutation_p.T831M	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	831						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTGCTTTATCGTTCTCCGTTC	0.602													False	0	False	16:27506672	0	A	27506672	G	A	27506672	3	1	88	1	0	0	0	0	1	0	0	0	6919	1145	40	1	3929	1	GTF3C1	16	27506672	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2901	27506672	62848081	15561	23273											
KIAA0556	23247	broad.mit.edu	37	chr16	27642431	27642431	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaagctgaagaagccttaaGacgcagttcacggacagccc	11	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27642431G>A	ENST00000261588.4	+	5	375	c.356G>A	c.(355-357)aGa>aAa	p.R119K		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	119										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GAAGCCTTAAGACGCAGTTCA	0.552													False	0	False	16:27642431	0	A	27642431	G	A	27642431	3	1	88	1	0	0	0	0	1	0	0	0	8233	942	33	2	374	2	KIAA0556	16	27642431	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135759	27642431	62712322	15562	23274											
KIAA0556	23247	broad.mit.edu	37	chr16	27751850	27751850	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacctcatgggcagaaaaatCtgtgagccacccgggaaaac	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27751850C>A	ENST00000261588.4	+	15	2251	c.2232C>A	c.(2230-2232)atC>atA	p.I744I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	744										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCAGAAAAATCTGTGAGCCAC	0.572													False	0	False	16:27751850	0	A	27751850	C	A	27751850	2	1	88	1	0	0	0	0	0	0	0	1	8233	903	32	3		3	KIAA0556	16	27751850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109419	27751850	62602903	15563	23275											
GSG1L	146395	broad.mit.edu	37	chr16	27818817	27818817	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggccacttacgggcagggtAtctctcgtggcggcagtcta	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27818817A>T	ENST00000380898.2	-	7	1027	c.478T>A	c.(478-480)Tac>Aac	p.Y160N	GSG1L_ENST00000380897.3_Missense_Mutation_p.Y142N|GSG1L_ENST00000447459.2_Missense_Mutation_p.Y297N|GSG1L_ENST00000569166.1_Missense_Mutation_p.Y160N|GSG1L_ENST00000395724.3_Missense_Mutation_p.Y246N			Q6UXU4	GSG1L_HUMAN	GSG1-like	297						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CGGGCAGGGTATCTCTCGTGG	0.512													False	0	True	16:27818817	0	T	27818817	A	T	27818817	3	4	88	1	0	0	0	0	1	0	0	0	6868	449	16	5	114	5	GSG1L	16	27818817	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66967	27818817	62535936	15564	23276											
GSG1L	146395	broad.mit.edu	37	chr16	27840187	27840187	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctcaaagaccttgcgCttgtgccggaactcaatgac	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27840187C>A	ENST00000380898.2	-	5	837	c.288G>T	c.(286-288)aaG>aaT	p.K96N	GSG1L_ENST00000380897.3_Missense_Mutation_p.K96N|GSG1L_ENST00000447459.2_Missense_Mutation_p.K251N|GSG1L_ENST00000569166.1_Missense_Mutation_p.K96N|GSG1L_ENST00000395724.3_Missense_Mutation_p.K200N			Q6UXU4	GSG1L_HUMAN	GSG1-like	251						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						AGACCTTGCGCTTGTGCCGGA	0.592													False	0	False	16:27840187	0	A	27840187	C	A	27840187	3	1	88	1	0	0	0	0	1	0	0	0	6868	796	28	3	254	3	GSG1L	16	27840187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21370	27840187	62514566	15565	23277											
GSG1L	146395	broad.mit.edu	37	chr16	27856320	27856320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtctccagtcctcaggacCgaggctcacggtgacctgga	14	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27856320C>T	ENST00000380898.2	-	4	697	c.148G>A	c.(148-150)Ggt>Agt	p.G50S	GSG1L_ENST00000380897.3_Missense_Mutation_p.G50S|GSG1L_ENST00000447459.2_Missense_Mutation_p.G205S|GSG1L_ENST00000569166.1_Missense_Mutation_p.G50S|GSG1L_ENST00000395724.3_Missense_Mutation_p.G154S			Q6UXU4	GSG1L_HUMAN	GSG1-like	205						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TCCTCAGGACCGAGGCTCACG	0.597													False	0	False	16:27856320	0	T	27856320	C	T	27856320	3	4	88	1	0	0	0	0	1	0	0	0	6868	652	23	1	398	1	GSG1L	16	27856320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16133	27856320	62498433	15566	23278											
XPO6	23214	broad.mit.edu	37	chr16	28167624	28167624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgccgttaactgacgCcatctttctggcccggatgt	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28167624C>T	ENST00000304658.5	-	7	1368	c.868G>A	c.(868-870)Gcg>Acg	p.A290T	XPO6_ENST00000565698.1_Missense_Mutation_p.A276T|XPO6_ENST00000561488.1_5'UTR	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	290					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTAACTGACGCCATCTTTCTG	0.567													False	0	False	16:28167624	0	T	28167624	C	T	28167624	3	4	88	1	0	0	0	0	1	0	0	0	17532	739	26	2	2581	2	XPO6	16	28167624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	311304	28167624	62187129	15567	23279											
SBK1	388228	broad.mit.edu	37	chr16	28331401	28331401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggccgcccgcaggtggGgctccctgaggacacggtga	16	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28331401G>A	ENST00000341901.4	+	4	1223	c.434G>A	c.(433-435)gGg>gAg	p.G145E		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	145	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CCGCAGGTGGGGCTCCCTGAG	0.711													False	0	True	16:28331401	0	A	28331401	G	A	28331401	3	1	88	1	0	0	0	0	1	0	0	0	13940	1232	43	2	444	2	SBK1	16	28331401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163777	28331401	62023352	15568	23280											
CLN3	1201	broad.mit.edu	37	chr16	28493652	28493652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcgctcctcttaccagcGgtattgctgagcgtgactca	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28493652G>A	ENST00000569430.1	-	14	1777	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	CLN3_ENST00000357806.7_Missense_Mutation_p.R221C|CLN3_ENST00000360019.2_Missense_Mutation_p.R320C|CLN3_ENST00000355477.5_Missense_Mutation_p.R272C|CLN3_ENST00000568224.1_Missense_Mutation_p.R242C|CLN3_ENST00000354630.5_Missense_Mutation_p.R303C|CLN3_ENST00000535392.1_Missense_Mutation_p.R242C|CLN3_ENST00000333496.9_Missense_Mutation_p.R296C|CLN3_ENST00000357857.9_Missense_Mutation_p.R266C|CLN3_ENST00000395653.4_Missense_Mutation_p.R220C|CLN3_ENST00000357076.5_Missense_Mutation_p.R210C|CLN3_ENST00000565316.1_Missense_Mutation_p.R303C|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000359984.7_Missense_Mutation_p.R320C			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	320					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCTTACCAGCGGTATTGCTGA	0.617													False	0	False	16:28493652	0	A	28493652	G	A	28493652	3	1	88	1	0	0	0	0	1	0	0	0	3566	1116	39	1	374	1	CLN3	16	28493652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162251	28493652	61861101	15569	23281											
CCDC101	112869	broad.mit.edu	37	chr16	28596992	28596992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctattaccggacaaagCtgcgtggcctctacacaacc	7	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28596992C>T	ENST00000317058.3	+	4	362	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	59					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CCGGACAAAGCTGCGTGGCCT	0.597													False	0	False	16:28596992	0	T	28596992	C	T	28596992	2	4	88	1	0	0	0	0	0	0	0	1	2755	796	28	2		2	CCDC101	16	28596992	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103340	28596992	61757761	15570	23282											
CCDC101	112869	broad.mit.edu	37	chr16	28602223	28602223	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatccccagactacctgcttCtaccgcgccctgatccatgc	6	18	1	2	rs1053570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28602223C>T	ENST00000317058.3	+	9	919	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	244	SGF29 C-terminal.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CTACCTGCTTCTACCGCGCCC	0.642													False	0	False	16:28602223	0	T	28602223	C	T	28602223	2	4	88	1	0	0	0	0	0	0	0	1	2755	912	32	2		2	CCDC101	16	28602223	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5231	28602223	61752530	15571	23283											
SULT1A2	6799	broad.mit.edu	37	chr16	28604766	28604766	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctcccatcaagcccaccttCtccagccatgaacttctcca	3	20	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28604766C>A	ENST00000395630.1	-	5	846	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.E166*	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	166					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						AGCCCACCTTCTCCAGCCATG	0.572													False	0	False	16:28604766	0	A	28604766	C	A	28604766	4	1	88	1	0	0	0	0	0	1	0	0	15455	922	32	3	407	3	SULT1A2	16	28604766	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2543	28604766	61749987	15572	23284											
EIF3C	8663	broad.mit.edu	37	chr16	28734529	28734529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggcagccgagaagaaacGggaggacaaagctaagaaga	15	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28734529G>A	ENST00000331666.6	+	9	1007	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	EIF3C_ENST00000395587.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000566866.1_Missense_Mutation_p.R274Q|EIF3C_ENST00000564243.1_Missense_Mutation_p.R264Q|EIF3C_ENST00000565099.1_3'UTR|EIF3C_ENST00000566501.1_Missense_Mutation_p.R274Q			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	274						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GAGAAGAAACGGGAGGACAAA	0.582													False	0	True	16:28734529	0	A	28734529	G	A	28734529	3	1	88	1	0	0	0	0	1	0	0	0	5044	1116	39	1	3676	1	EIF3C	16	28734529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129763	28734529	61620224	15573	23285											
EIF3C	8663	broad.mit.edu	37	chr16	28734551	28734551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacaaagctaagaagaaGcacgacaggaaatccaagcg	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28734551G>A	ENST00000331666.6	+	9	1029	c.843G>A	c.(841-843)aaG>aaA	p.K281K	EIF3C_ENST00000395587.1_Silent_p.K281K|EIF3C_ENST00000566866.1_Silent_p.K281K|EIF3C_ENST00000564243.1_Silent_p.K271K|EIF3C_ENST00000566501.1_Silent_p.K281K			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	281						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						CTAAGAAGAAGCACGACAGGA	0.577													False	0	True	16:28734551	0	A	28734551	G	A	28734551	2	1	88	1	0	0	0	0	0	0	0	1	5044	962	34	2		2	EIF3C	16	28734551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	28734551	61620202	15574	23286											
ATXN2L	11273	broad.mit.edu	37	chr16	28837664	28837664	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtttaagccaagtgatgTcatgcttgttcacttccgaa	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28837664T>G	ENST00000336783.4	+	5	736	c.569T>G	c.(568-570)gTc>gGc	p.V190G	ATXN2L_ENST00000340394.8_Missense_Mutation_p.V190G|ATXN2L_ENST00000325215.6_Missense_Mutation_p.V190G|ATXN2L_ENST00000570200.1_Missense_Mutation_p.V190G|ATXN2L_ENST00000382686.4_Missense_Mutation_p.V190G|ATXN2L_ENST00000395547.2_Missense_Mutation_p.V190G|ATXN2L_ENST00000564304.1_Missense_Mutation_p.V190G	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	190						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCAAGTGATGTCATGCTTGTT	0.507													False	0	False	16:28837664	0	G	28837664	T	G	28837664	3	3	88	1	0	0	0	0	1	0	0	0	1216	1667	58	4	587	4	ATXN2L	16	28837664	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	103113	28837664	61517089	15575	23287											
ATXN2L	11273	broad.mit.edu	37	chr16	28841994	28841994	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggtccccggggaggagttCgatgcagcagctctcggggc	17	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28841994C>T	ENST00000336783.4	+	9	1260	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.R365*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.R365*|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.R365*	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	365						membrane		p.R365*(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGGAGGAGTTCGATGCAGCAG	0.612													False	0	False	16:28841994	0	T	28841994	C	T	28841994	4	4	88	1	0	0	0	0	0	1	0	0	1216	876	31	1	1127	1	ATXN2L	16	28841994	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4330	28841994	61512759	15576	23288											
SH2B1	25970	broad.mit.edu	37	chr16	28877932	28877932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgtggcatcctgcagtggCgggggaccgttgaccctccc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28877932C>T	ENST00000337120.5	+	1	3808	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.R173W|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.R173W|SH2B1_ENST00000395532.4_Missense_Mutation_p.R173W	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	173	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGCAGTGGCGGGGGACCGT	0.642													False	0	True	16:28877932	0	T	28877932	C	T	28877932	3	4	88	1	0	0	0	0	1	0	0	0	14308	759	27	1	519	1	SH2B1	16	28877932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35938	28877932	61476821	15577	23289											
SH2B1	25970	broad.mit.edu	37	chr16	28883991	28883991	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctccagtgatgttgtccTtgtcagctatgtcccatcct	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28883991T>G	ENST00000337120.5	+	7	5153	c.1862T>G	c.(1861-1863)cTt>cGt	p.L621R	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.L621R|SH2B1_ENST00000538342.1_Missense_Mutation_p.L285R|SH2B1_ENST00000545570.1_Missense_Mutation_p.L311R|SH2B1_ENST00000359285.5_Missense_Mutation_p.L621R|SH2B1_ENST00000395532.4_Missense_Mutation_p.L621R	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	621	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GATGTTGTCCTTGTCAGCTAT	0.602													False	0	False	16:28883991	0	G	28883991	T	G	28883991	3	3	88	1	0	0	0	0	1	0	0	0	14308	1609	56	4	1888	4	SH2B1	16	28883991	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6059	28883991	61470762	15578	23290											
ATP2A1	487	broad.mit.edu	37	chr16	28900144	28900144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacctgcctggccctggGtacccgtcggatggcaaaga	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28900144G>A	ENST00000395503.4	+	9	1149	c.965G>A	c.(964-966)gGt>gAt	p.G322D	ATP2A1_ENST00000357084.3_Missense_Mutation_p.G322D|ATP2A1_ENST00000536376.1_Missense_Mutation_p.G197D	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	322					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGGCCCTGGGTACCCGTCGG	0.602													False	0	True	16:28900144	0	A	28900144	G	A	28900144	3	1	88	1	0	0	0	0	1	0	0	0	1140	1261	44	2	999	2	ATP2A1	16	28900144	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16153	28900144	61454609	15579	23291											
ATP2A1	487	broad.mit.edu	37	chr16	28913250	28913250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcattgccatgggatctGgcactgccgtggccaagact	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28913250G>A	ENST00000395503.4	+	16	2351	c.2167G>A	c.(2167-2169)Ggc>Agc	p.G723S	ATP2A1_ENST00000357084.3_Missense_Mutation_p.G723S|ATP2A1_ENST00000536376.1_Missense_Mutation_p.G598S	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	723					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CATGGGATCTGGCACTGCCGT	0.597													False	0	False	16:28913250	0	A	28913250	G	A	28913250	3	1	88	1	0	0	0	0	1	0	0	0	1140	1348	47	2	2229	2	ATP2A1	16	28913250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13106	28913250	61441503	15580	23292											
ATP2A1	487	broad.mit.edu	37	chr16	28913689	28913689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtggctggctcttcttcCgctacatggcaatcgggggt	13	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28913689C>T	ENST00000395503.4	+	17	2690	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C	ATP2A1_ENST00000357084.3_Missense_Mutation_p.R836C|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R711C	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	836					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCTCTTCTTCCGCTACATGGC	0.662													False	0	False	16:28913689	0	T	28913689	C	T	28913689	3	4	88	1	0	0	0	0	1	0	0	0	1140	652	23	1	2572	1	ATP2A1	16	28913689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439	28913689	61441064	15581	23293											
RABEP2	79874	broad.mit.edu	37	chr16	28920040	28920040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggttttcctcattcaaccGctttacctcatggtgcaggc	8	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28920040G>A	ENST00000358201.4	-	8	1723	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	RABEP2_ENST00000357573.6_Missense_Mutation_p.R347W|RABEP2_ENST00000544477.1_Missense_Mutation_p.R308W	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	379					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCATTCAACCGCTTTACCTCA	0.607													False	0	False	16:28920040	0	A	28920040	G	A	28920040	3	1	88	1	0	0	0	0	1	0	0	0	13041	1086	38	1	598	1	RABEP2	16	28920040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6351	28920040	61434713	15582	23294											
CD19	930	broad.mit.edu	37	chr16	28943379	28943379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccccatggaagtcaggCccgaggaacctctagtggtg	12	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28943379C>T	ENST00000538922.1	+	1	120	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	CD19_ENST00000567541.1_Missense_Mutation_p.P20S|CD19_ENST00000324662.3_Missense_Mutation_p.P20S	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	20	Ig-like C2-type 1.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGAAGTCAGGCCCGAGGAACC	0.592													False	0	True	16:28943379	0	T	28943379	C	T	28943379	3	4	88	1	0	0	0	0	1	0	0	0	2996	739	26	2	60	2	CD19	16	28943379	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23339	28943379	61411374	15583	23295											
SPNS1	83985	broad.mit.edu	37	chr16	28995106	28995106	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcctgtctcctctccctgcaGatctctgaccgcctgcgccg	8	19	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995106G>A	ENST00000311008.11	+	11	1697		c.e11-1		RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Splice_Site|SPNS1_ENST00000352260.7_Splice_Site|SPNS1_ENST00000565975.1_Splice_Site|SPNS1_ENST00000323081.8_Splice_Site	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)						lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCTCCCTGCAGATCTCTGACC	0.632													False	0	False	16:28995106	0	A	28995106	G	A	28995106	5	1	88	1	0	0	0	0	0	0	1	0	15156	956	33	2	1362	2	SPNS1	16	28995106	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51727	28995106	61359647	15584	23296											
SPNS1	83985	broad.mit.edu	37	chr16	28995175	28995175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgggctctgcagttctcGctcatgctctgcgcgtttgt	11	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995175G>A	ENST00000311008.11	+	11	1766	c.1389G>A	c.(1387-1389)tcG>tcA	p.S463S	RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Silent_p.S411S|SPNS1_ENST00000352260.7_Silent_p.S389S|SPNS1_ENST00000565975.1_Silent_p.S508S|SPNS1_ENST00000323081.8_Silent_p.S390S	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	463					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TGCAGTTCTCGCTCATGCTCT	0.667													False	0	False	16:28995175	0	A	28995175	G	A	28995175	2	1	88	1	0	0	0	0	0	0	0	1	15156	1074	38	1		1	SPNS1	16	28995175	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	28995175	61359578	15585	23297											
C16orf54	283897	broad.mit.edu	37	chr16	29755643	29755643	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcacgcttccagaaagctgaGatctgctccaaggtgacccg	10	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29755643G>A	ENST00000329410.3	-	2	725	c.630C>T	c.(628-630)atC>atT	p.I210I		NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	210						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AGAAAGCTGAGATCTGCTCCA	0.672													False	0	False	16:29755643	0	A	29755643	G	A	29755643	2	1	88	1	0	0	0	0	0	0	0	1	1829	932	33	2		2	C16orf54	16	29755643	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	760468	29755643	60599110	15586	23298											
KIF22	3835	broad.mit.edu	37	chr16	29809753	29809753	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctatgcaggttcagtgCagcccatcctaaggcacttg	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29809753C>T	ENST00000561482.1	+	3	758	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000160827.4_Nonsense_Mutation_p.Q109*|KIF22_ENST00000400751.5_Nonsense_Mutation_p.Q41*|KIF22_ENST00000569382.2_Nonsense_Mutation_p.Q41*	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	109	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGGTTCAGTGCAGCCCATCCT	0.517													False	0	False	16:29809753	0	T	29809753	C	T	29809753	4	4	88	1	0	0	0	0	0	1	0	0	8340	711	25	2	335	2	KIF22	16	29809753	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54110	29809753	60545000	15587	23299											
KIF22	3835	broad.mit.edu	37	chr16	29810350	29810350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtaatccgagaagactgcCgggggaatatcctgattccg	13	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29810350C>T	ENST00000561482.1	+	5	1037	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000160827.4_Missense_Mutation_p.R202W|KIF22_ENST00000400751.5_Missense_Mutation_p.R134W|KIF22_ENST00000569382.2_Missense_Mutation_p.R134W	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	202	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGAAGACTGCCGGGGGAATAT	0.547													False	0	True	16:29810350	0	T	29810350	C	T	29810350	3	4	88	1	0	0	0	0	1	0	0	0	8340	643	23	1	622	1	KIF22	16	29810350	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	597	29810350	60544403	15588	23300											
PRRT2	112476	broad.mit.edu	37	chr16	29824802	29824802	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagagcctgctccccaaccaGacccccggccagattcccag	8	20	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29824802G>T	ENST00000300797.6	+	2	601	c.427G>T	c.(427-429)Gac>Tac	p.D143Y	PRRT2_ENST00000567659.1_Missense_Mutation_p.D143Y|PRRT2_ENST00000358758.7_Missense_Mutation_p.D143Y|PRRT2_ENST00000567551.1_Intron|AC009133.20_ENST00000569039.1_RNA			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	143	Pro-rich.				response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TCCCCAACCAGACCCCCGGCC	0.632													False	0	False	16:29824802	0	T	29824802	G	T	29824802	3	4	88	1	0	0	0	0	1	0	0	0	12686	942	33	3	429	3	PRRT2	16	29824802	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14452	29824802	60529951	15589	23301											
MVP	9961	broad.mit.edu	37	chr16	29842323	29842323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcacagggcaagttcggcttCgccacgctgacctcgagatc	11	14	1	2	rs146114293	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29842323C>T	ENST00000357402.5	+	3	388	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	MVP_ENST00000395353.1_Missense_Mutation_p.R84C|MVP_ENST00000452209.2_Intron	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	84					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AGTTCGGCTTCGCCACGCTGA	0.632													False	0	False	16:29842323	0	T	29842323	C	T	29842323	3	4	88	1	0	0	0	0	1	0	0	0	10063	884	31	1	256	1	MVP	16	29842323	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17521	29842323	60512430	15590	23302											
MVP	9961	broad.mit.edu	37	chr16	29853245	29853245	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgtctctgcagcgtggtcttCgggcctgagctggtgtcgct	15	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29853245C>T	ENST00000357402.5	+	10	1584	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	MVP_ENST00000395353.1_Silent_p.F482F|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	482					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCGTGGTCTTCGGGCCTGAGC	0.677													False	0	True	16:29853245	0	T	29853245	C	T	29853245	2	4	88	1	0	0	0	0	0	0	0	1	10063	883	31	1		1	MVP	16	29853245	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10922	29853245	60501508	15591	23303											
CDIPT	10423	broad.mit.edu	37	chr16	29870526	29870526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtcacttcttcttggcgCggtctgctgcgtccagggca	13	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29870526C>T	ENST00000219789.6	-	6	1504	c.626G>A	c.(625-627)cGc>cAc	p.R209H	CDIPT_ENST00000567459.1_5'UTR|CDIPT_ENST00000561555.1_Missense_Mutation_p.R233H|CDIPT_ENST00000563415.1_3'UTR|CDIPT_ENST00000566113.1_Missense_Mutation_p.R164H|CDIPT_ENST00000570016.1_Missense_Mutation_p.R209H|CDIPT_ENST00000569956.1_Missense_Mutation_p.R209H	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	209						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity			endometrium(1)|lung(3)	4						CTTCTTGGCGCGGTCTGCTGC	0.667													False	0	False	16:29870526	0	T	29870526	C	T	29870526	3	4	88	1	0	0	0	0	1	0	0	0	3146	768	27	1	19	1	CDIPT	16	29870526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17281	29870526	60484227	15592	23304											
CDIPT	10423	broad.mit.edu	37	chr16	29874153	29874153	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgatgaggttgggcacgAacaggaagatattttcgtct	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29874153A>C	ENST00000219789.6	-	1	904	c.26T>G	c.(25-27)tTc>tGc	p.F9C	CDIPT_ENST00000563415.1_Missense_Mutation_p.F9C|CDIPT_ENST00000566113.1_Missense_Mutation_p.F9C|CDIPT_ENST00000570016.1_Missense_Mutation_p.F9C|CDIPT_ENST00000569956.1_Missense_Mutation_p.F9C	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	9						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity			endometrium(1)|lung(3)	4						GTTGGGCACGAACAGGAAGAT	0.697													False	0	False	16:29874153	0	C	29874153	A	C	29874153	3	2	88	1	0	0	0	0	1	0	0	0	3146	246	9	4	639	4	CDIPT	16	29874153	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3627	29874153	60480600	15593	23305											
SEZ6L2	26470	broad.mit.edu	37	chr16	29888137	29888137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccactggcaagtgagaatgtCggagcctagcagctcgtagc	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29888137C>T	ENST00000308713.5	-	12	2571	c.2044G>A	c.(2044-2046)Gac>Aac	p.D682N	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.D638N|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.D568N|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.D612N	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	682	Sushi 3.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGAGAATGTCGGAGCCTAGC	0.701													False	0	False	16:29888137	0	T	29888137	C	T	29888137	3	4	88	1	0	0	0	0	1	0	0	0	14225	884	31	1	755	1	SEZ6L2	16	29888137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13984	29888137	60466616	15594	23306											
SEZ6L2	26470	broad.mit.edu	37	chr16	29891239	29891239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctgtgggatccacacattCgatggcattggggggcccag	14	10	1	0	rs139011711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29891239C>T	ENST00000308713.5	-	9	2046	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E463K|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.E393K|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E437K	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	507	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCACACATTCGATGGCATTG	0.622													False	0	False	16:29891239	0	T	29891239	C	T	29891239	3	4	88	1	0	0	0	0	1	0	0	0	14225	893	31	1	1292	1	SEZ6L2	16	29891239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3102	29891239	60463514	15595	23307											
TAOK2	9344	broad.mit.edu	37	chr16	29989137	29989137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgaaggacccagatgTggctgagctcttcttcaagg	13	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29989137T>C	ENST00000308893.4	+	2	1087	c.44T>C	c.(43-45)gTg>gCg	p.V15A	TAOK2_ENST00000543033.1_Missense_Mutation_p.V15A|TAOK2_ENST00000279394.3_Missense_Mutation_p.V15A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	15					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GACCCAGATGTGGCTGAGCTC	0.612													False	0	False	16:29989137	0	C	29989137	T	C	29989137	3	2	88	1	0	0	0	0	1	0	0	0	15630	1696	59	4	46	4	TAOK2	16	29989137	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97898	29989137	60365616	15596	23308											
TAOK2	9344	broad.mit.edu	37	chr16	29996816	29996816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagttccagcagcacatcCttgggcagcagaagaaggag	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29996816C>A	ENST00000308893.4	+	14	2748	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I	TAOK2_ENST00000416441.2_Missense_Mutation_p.L396I|TAOK2_ENST00000543033.1_Missense_Mutation_p.L569I|TAOK2_ENST00000279394.3_Missense_Mutation_p.L569I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	569					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCAGCACATCCTTGGGCAGCA	0.622													False	0	False	16:29996816	0	A	29996816	C	A	29996816	3	1	88	1	0	0	0	0	1	0	0	0	15630	681	24	3	1755	3	TAOK2	16	29996816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7679	29996816	60357937	15597	23309											
TAOK2	9344	broad.mit.edu	37	chr16	29998237	29998237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaggatgagagtcttctgGatgaggagtttgagcttggc	17	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29998237G>A	ENST00000308893.4	+	16	3687	c.2644G>A	c.(2644-2646)Gat>Aat	p.D882N	TAOK2_ENST00000416441.2_Missense_Mutation_p.D709N|TAOK2_ENST00000543033.1_Missense_Mutation_p.D769N|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	882	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAGTCTTCTGGATGAGGAGTT	0.612													False	0	False	16:29998237	0	A	29998237	G	A	29998237	3	1	88	1	0	0	0	0	1	0	0	0	15630	1174	41	2	2702	2	TAOK2	16	29998237	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1421	29998237	60356516	15598	23310											
TAOK2	9344	broad.mit.edu	37	chr16	29999166	29999166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcggggtgaacggccCacccgaatcccccggctact	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29999166C>T	ENST00000308893.4	+	16	4616	c.3573C>T	c.(3571-3573)ccC>ccT	p.P1191P	TAOK2_ENST00000416441.2_Silent_p.P1018P|TAOK2_ENST00000543033.1_Silent_p.P1078P|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1191					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTGAACGGCCCACCCGAATCC	0.706													False	0	True	16:29999166	0	T	29999166	C	T	29999166	2	4	88	1	0	0	0	0	0	0	0	1	15630	581	21	2		2	TAOK2	16	29999166	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	929	29999166	60355587	15599	23311											
HIRIP3	8479	broad.mit.edu	37	chr16	30004620	30004620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcatctgagtccagggTccgtcggtacagctcccctg	10	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30004620T>C	ENST00000279392.3	-	7	2409	c.1579A>G	c.(1579-1581)Acc>Gcc	p.T527A	HIRIP3_ENST00000564026.1_3'UTR	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	527					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GAGTCCAGGGTCCGTCGGTAC	0.612													False	0	True	16:30004620	0	C	30004620	T	C	30004620	3	2	88	1	0	0	0	0	1	0	0	0	7168	1667	58	4	95	4	HIRIP3	16	30004620	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5454	30004620	60350133	15600	23312											
INO80E	283899	broad.mit.edu	37	chr16	30007925	30007925	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaattactgaaggtgTcccgggacaagaggtgaggc	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30007925T>C	ENST00000563197.1	+	2	1156	c.139T>C	c.(139-141)Tcc>Ccc	p.S47P	INO80E_ENST00000567705.1_Missense_Mutation_p.S47P|INO80E_ENST00000567254.1_Missense_Mutation_p.S47P|INO80E_ENST00000304516.7_Missense_Mutation_p.S47P|INO80E_ENST00000563040.1_3'UTR	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	47					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						ACTGAAGGTGTCCCGGGACAA	0.597													False	0	True	16:30007925	0	C	30007925	T	C	30007925	3	2	88	1	0	0	0	0	1	0	0	0	7800	1667	58	4	145	4	INO80E	16	30007925	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3305	30007925	60346828	15601	23313											
DOC2A	8448	broad.mit.edu	37	chr16	30021360	30021360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagggctgcagggggggCcagagccagggggaccagat	21	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30021360C>T	ENST00000350119.4	-	2	374	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	DOC2A_ENST00000564979.1_Missense_Mutation_p.A62T|DOC2A_ENST00000564944.1_Missense_Mutation_p.A62T	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	62	Interaction with UNC13D and DYNLT1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						GCAGGGGGGGCCAGAGCCAGG	0.706													False	0	True	16:30021360	0	T	30021360	C	T	30021360	3	4	88	1	0	0	0	0	1	0	0	0	4713	739	26	2	1058	2	DOC2A	16	30021360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13435	30021360	60333393	15602	23314											
PPP4C	5531	broad.mit.edu	37	chr16	30094745	30094745	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcgcatcacactgatcCggggcaaccatgagagtcgc	11	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30094745C>A	ENST00000279387.7	+	6	502	c.334C>A	c.(334-336)Cgg>Agg	p.R112R	PPP4C_ENST00000561610.1_Silent_p.R112R	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	112					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CACACTGATCCGGGGCAACCA	0.607													False	0	True	16:30094745	0	A	30094745	C	A	30094745	2	1	88	1	0	0	0	0	0	0	0	1	12476	643	23	3		3	PPP4C	16	30094745	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73385	30094745	60260008	15603	23315											
TBX6	6911	broad.mit.edu	37	chr16	30100374	30100374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggggtgaatgtagacacGgtcaggcaggcggggctctg	19	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30100374G>A	ENST00000553607.1	-	3	1204	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	TBX6_ENST00000279386.2_Missense_Mutation_p.R171C|TBX6_ENST00000395224.2_Missense_Mutation_p.R171C			O95947	TBX6_HUMAN	T-box 6	171					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						ATGTAGACACGGTCAGGCAGG	0.632													False	0	False	16:30100374	0	A	30100374	G	A	30100374	3	1	88	1	0	0	0	0	1	0	0	0	15744	1116	39	1	823	1	TBX6	16	30100374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5629	30100374	60254379	15604	23316											
GDPD3	79153	broad.mit.edu	37	chr16	30116209	30116209	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacttaggaggtccgggcaGctggtccatggttgtccagg	17	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30116209G>T	ENST00000406256.3	-	10	1318	c.941C>A	c.(940-942)gCt>gAt	p.A314D		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	314					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GGTCCGGGCAGCTGGTCCATG	0.532													False	0	False	16:30116209	0	T	30116209	G	T	30116209	3	4	88	1	0	0	0	0	1	0	0	0	6370	971	34	3	19	3	GDPD3	16	30116209	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15835	30116209	60238544	15605	23317											
TBC1D10B	26000	broad.mit.edu	37	chr16	30370680	30370680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccccgtccagctgaatggcCtcctgcaggtgggacaagcc	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30370680C>A	ENST00000409939.3	-	7	1535	c.1455G>T	c.(1453-1455)gaG>gaT	p.E485D		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	485	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GCTGAATGGCCTCCTGCAGGT	0.667													False	0	False	16:30370680	0	A	30370680	C	A	30370680	3	1	88	1	0	0	0	0	1	0	0	0	15681	680	24	3	983	3	TBC1D10B	16	30370680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	254471	30370680	59984073	15606	23318											
SEPT1	1731	broad.mit.edu	37	chr16	30392552	30392552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcccggaggaaggccacatCtaggggccggagcctgcacc	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30392552C>A	ENST00000321367.3	-	7	640	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	SEPT1_ENST00000605106.1_Missense_Mutation_p.D157Y|SEPT1_ENST00000571393.1_Missense_Mutation_p.D152Y	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	152					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AAGGCCACATCTAGGGGCCGG	0.632													False	0	False	16:30392552	0	A	30392552	C	A	30392552	3	1	88	1	0	0	0	0	1	0	0	0	14140	913	32	3	673	3	SEPT1	16	30392552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21872	30392552	59962201	15607	23319											
ITGAL	0	broad.mit.edu	37	chr16	30518143	30518143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggacctgcacttcccccCgggactctccttccgcaagg	10	18	1	0	rs143575422	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30518143C>T	ENST00000356798.6	+	21	2654	c.2474C>T	c.(2473-2475)cCg>cTg	p.P825L	ITGAL_ENST00000358164.5_Missense_Mutation_p.P741L|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	825					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CACTTCCCCCCGGGACTCTCC	0.602													False	0	True	16:30518143	0	T	30518143	C	T	30518143	3	4	88	1	0	0	0	0	1	0	0	0	7936	652	23	1	2556	1	ITGAL	16	30518143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125591	30518143	59836610	15608	23320											
ZNF768	79724	broad.mit.edu	37	chr16	30536376	30536376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggctgtgggtgcgctggtgtCgcaggaggtaggagctgtcg	21	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536376C>T	ENST00000380412.5	-	2	1260	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	ZNF768_ENST00000562803.1_Missense_Mutation_p.R331Q	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	362					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCGCTGGTGTCGCAGGAGGTA	0.632													False	0	False	16:30536376	0	T	30536376	C	T	30536376	3	4	88	1	0	0	0	0	1	0	0	0	18223	884	31	1	541	1	ZNF768	16	30536376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18233	30536376	59818377	15609	23321											
ZNF768	79724	broad.mit.edu	37	chr16	30536780	30536780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaagcatctcaaactgCggtgtagacagcagggcccc	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536780C>T	ENST00000380412.5	-	2	856	c.681G>A	c.(679-681)ccG>ccA	p.P227P	ZNF768_ENST00000562803.1_Silent_p.P196P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	227					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCTCAAACTGCGGTGTAGACA	0.662													False	0	False	16:30536780	0	T	30536780	C	T	30536780	2	4	88	1	0	0	0	0	0	0	0	1	18223	755	27	1		1	ZNF768	16	30536780	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	404	30536780	59817973	15610	23322											
ZNF768	79724	broad.mit.edu	37	chr16	30536921	30536921	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaaggactcttttcctcGgggttcagaagcatctccgc	9	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30536921G>A	ENST00000380412.5	-	2	715	c.540C>T	c.(538-540)ccC>ccT	p.P180P	ZNF768_ENST00000562803.1_Silent_p.P149P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	180					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	p.P180P(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCTTTTCCTCGGGGTTCAGAA	0.522													False	0	True	16:30536921	0	A	30536921	G	A	30536921	2	1	88	1	0	0	0	0	0	0	0	1	18223	1103	39	1		1	ZNF768	16	30536921	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141	30536921	59817832	15611	23323											
ZNF768	79724	broad.mit.edu	37	chr16	30537047	30537047	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcagattcatagccagggctCcggggttcatacccggggct	13	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30537047C>T	ENST00000380412.5	-	2	589	c.414G>A	c.(412-414)cgG>cgA	p.R138R	ZNF768_ENST00000562803.1_Silent_p.R107R	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	138	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGCCAGGGCTCCGGGGTTCAT	0.507													False	0	False	16:30537047	0	T	30537047	C	T	30537047	2	4	88	1	0	0	0	0	0	0	0	1	18223	842	30	2		2	ZNF768	16	30537047	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126	30537047	59817706	15612	23324											
ZNF747	65988	broad.mit.edu	37	chr16	30544313	30544313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggggtgggcaaaaaagCgggggcgactccggcgccgg	21	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30544313C>T	ENST00000569360.1	-	3	672	c.500G>A	c.(499-501)cGc>cAc	p.R167H	ZNF747_ENST00000535210.1_Missense_Mutation_p.R167H|ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000568028.1_Missense_Mutation_p.R167H|ZNF747_ENST00000252799.3_3'UTR			Q9BV97	ZN747_HUMAN	zinc finger protein 747	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			kidney(1)|lung(3)|prostate(1)	5						GGCAAAAAAGCGGGGGCGACT	0.697													False	0	True	16:30544313	0	T	30544313	C	T	30544313	3	4	88	1	0	0	0	0	1	0	0	0	18212	783	27	1		1	ZNF747	16	30544313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7266	30544313	59810440	15613	23325											
ZNF764	92595	broad.mit.edu	37	chr16	30567266	30567266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggcacagagggaggggCgtccccggtgcggtgccttg	21	10	0	1	rs142253089		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30567266C>T	ENST00000395091.2	-	3	788	c.473G>A	c.(472-474)cGc>cAc	p.R158H	ZNF764_ENST00000252797.2_Missense_Mutation_p.R159H|AC002310.13_ENST00000568114.1_Intron			Q96H86	ZN764_HUMAN	zinc finger protein 764	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GAGGGAGGGGCGTCCCCGGTG	0.701													False	0	True	16:30567266	0	T	30567266	C	T	30567266	3	4	88	1	0	0	0	0	1	0	0	0	18220	768	27	1	754	1	ZNF764	16	30567266	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22953	30567266	59787487	15614	23326											
ZNF764	92595	broad.mit.edu	37	chr16	30567369	30567369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agacccggcggccacagggtCgggcttctccagggctcccg	15	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30567369C>T	ENST00000395091.2	-	3	685	c.370G>A	c.(370-372)Gac>Aac	p.D124N	ZNF764_ENST00000252797.2_Missense_Mutation_p.D125N|AC002310.13_ENST00000568114.1_Intron			Q96H86	ZN764_HUMAN	zinc finger protein 764	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GCCACAGGGTCGGGCTTCTCC	0.622													False	0	True	16:30567369	0	T	30567369	C	T	30567369	3	4	88	1	0	0	0	0	1	0	0	0	18220	884	31	1	857	1	ZNF764	16	30567369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103	30567369	59787384	15615	23327											
ZNF688	146542	broad.mit.edu	37	chr16	30581384	30581384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcggtggatccactggtgCgcttccactgcgaacttcct	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30581384C>T	ENST00000223459.6	-	3	1788	c.684G>A	c.(682-684)gcG>gcA	p.A228A	ZNF688_ENST00000395219.1_Silent_p.A214A	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCCACTGGTGCGCTTCCACTG	0.721													False	0	False	16:30581384	0	T	30581384	C	T	30581384	2	4	88	1	0	0	0	0	0	0	0	1	18176	755	27	1		1	ZNF688	16	30581384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14015	30581384	59773369	15616	23328											
ZNF785	146540	broad.mit.edu	37	chr16	30594073	30594073	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcctttcccacactccacGcaggggaagggccggctgtc	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30594073G>A	ENST00000395216.2	-	3	1185	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	ZNF785_ENST00000470110.1_Silent_p.C327C|AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CACACTCCACGCAGGGGAAGG	0.667													False	0	False	16:30594073	0	A	30594073	G	A	30594073	2	1	88	1	0	0	0	0	0	0	0	1	18239	1079	38	1		1	ZNF785	16	30594073	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12689	30594073	59760680	15617	23329											
PRR14	78994	broad.mit.edu	37	chr16	30664242	30664242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttccctcgctaggcctcccGaccctctgtgtttgtgtcgc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30664242G>A	ENST00000542965.2	+	4	778	c.322G>A	c.(322-324)Gac>Aac	p.D108N	PRR14_ENST00000300835.4_Missense_Mutation_p.D108N			Q9BWN1	PRR14_HUMAN	proline rich 14	108	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TAGGCCTCCCGACCCTCTGTG	0.652													False	0	True	16:30664242	0	A	30664242	G	A	30664242	3	1	88	1	0	0	0	0	1	0	0	0	12662	1058	37	1	336	1	PRR14	16	30664242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70169	30664242	59690511	15618	23330											
PRR14	78994	broad.mit.edu	37	chr16	30666168	30666168	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgccatctcagaggccgagCagtctggggctgctgagggc	16	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666168C>T	ENST00000542965.2	+	7	1333	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	PRR14_ENST00000300835.4_Nonsense_Mutation_p.Q293*|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	293	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AGAGGCCGAGCAGTCTGGGGC	0.627													False	0	False	16:30666168	0	T	30666168	C	T	30666168	4	4	88	1	0	0	0	0	0	1	0	0	12662	711	25	2	903	2	PRR14	16	30666168	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1926	30666168	59688585	15619	23331											
PRR14	78994	broad.mit.edu	37	chr16	30666368	30666368	+	Silent	SNP	G	G	A													caaccaagccgaccacggccGcggcggcacactgtgggtgg					rs150232321	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666368G>A	ENST00000542965.2	+	7	1533	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	PRR14_ENST00000300835.4_Silent_p.P359P|PRR14_ENST00000571654.1_Intron			Q9BWN1	PRR14_HUMAN	proline rich 14	359	Pro-rich.		P -> L (in dbSNP:rs3747481).							breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GACCACGGCCGCGGCGGCACA	0.701													False	0	False	16:30666368	0	A	30666368	G	A	30666368	2	1	88	1	0	0	0	0	0	0	0	1	12662	1074	38	1		1	PRR14	16	30666368	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200	30666368	59688385	15620	23332	250	2									
PRR14	78994	broad.mit.edu	37	chr16	30666370	30666370	+	Missense_Mutation	SNP	G	G	A													accaagccgaccacggccgcGgcggcacactgtgggtggtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666370G>A	ENST00000542965.2	+	7	1535	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	PRR14_ENST00000300835.4_Missense_Mutation_p.R360Q|PRR14_ENST00000571654.1_Intron			Q9BWN1	PRR14_HUMAN	proline rich 14	360	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCACGGCCGCGGCGGCACACT	0.701													False	0	False	16:30666370	0	A	30666370	G	A	30666370	3	1	88	1	0	0	0	0	1	0	0	0	12662	1116	39	1	1105	1	PRR14	16	30666370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	30666370	59688383	15621	23333	250	2									
PRR14	78994	broad.mit.edu	37	chr16	30667463	30667463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgggacagcagccttcctcGatcacgaagaccgtcccgtg	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30667463G>A	ENST00000542965.2	+	11	2045	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	PRR14_ENST00000300835.4_Missense_Mutation_p.R530Q			Q9BWN1	PRR14_HUMAN	proline rich 14	530										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AGCCTTCCTCGATCACGAAGA	0.642													False	0	False	16:30667463	0	A	30667463	G	A	30667463	3	1	88	1	0	0	0	0	1	0	0	0	12662	1058	37	1	1631	1	PRR14	16	30667463	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1093	30667463	59687290	15622	23334											
FBRS	64319	broad.mit.edu	37	chr16	30680146	30680146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggccccaccagccttcGcctccccaccggacccatgg	10	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30680146G>A	ENST00000356166.6	+	17	3300	c.2212G>A	c.(2212-2214)Gcc>Acc	p.A738T	FBRS_ENST00000395073.2_Missense_Mutation_p.A130T|FBRS_ENST00000568722.1_Missense_Mutation_p.A130T|FBRS_ENST00000287468.5_Missense_Mutation_p.A218T			Q9HAH7	FBRS_HUMAN	fibrosin	218										ovary(1)	1			Colorectal(24;0.103)			ACCAGCCTTCGCCTCCCCACC	0.687													False	0	False	16:30680146	0	A	30680146	G	A	30680146	3	1	88	1	0	0	0	0	1	0	0	0	5747	1087	38	1	690	1	FBRS	16	30680146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12683	30680146	59674607	15623	23335											
FBRS	64319	broad.mit.edu	37	chr16	30680839	30680839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaccacctgctgcggcccCgggaacccctcaccttctca	7	21	2	0	rs146279694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30680839C>T	ENST00000356166.6	+	18	3904	c.2816C>T	c.(2815-2817)cCg>cTg	p.P939L	FBRS_ENST00000395073.2_Missense_Mutation_p.P331L|FBRS_ENST00000568722.1_Missense_Mutation_p.P331L|FBRS_ENST00000287468.5_Missense_Mutation_p.P419L			Q9HAH7	FBRS_HUMAN	fibrosin	419										ovary(1)	1			Colorectal(24;0.103)			GCTGCGGCCCCGGGAACCCCT	0.716													False	0	True	16:30680839	0	T	30680839	C	T	30680839	3	4	88	1	0	0	0	0	1	0	0	0	5747	652	23	1	1298	1	FBRS	16	30680839	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	693	30680839	59673914	15624	23336											
SRCAP	10847	broad.mit.edu	37	chr16	30740437	30740437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgttgccagccccatcGgccctcgttctcctggcccc	8	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30740437G>A	ENST00000262518.4	+	26	6194	c.5809G>A	c.(5809-5811)Ggc>Agc	p.G1937S	SRCAP_ENST00000344771.4_Missense_Mutation_p.G1779S|SRCAP_ENST00000395059.2_Missense_Mutation_p.G1875S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1937					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGCCCCATCGGCCCTCGTTC	0.597													False	0	False	16:30740437	0	A	30740437	G	A	30740437	3	1	88	1	0	0	0	0	1	0	0	0	15217	1116	39	1	5903	1	SRCAP	16	30740437	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59598	30740437	59614316	15625	23337											
SRCAP	10847	broad.mit.edu	37	chr16	30745907	30745907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaggaggaagagactgtgGccagcaagcagactcatatt	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30745907G>T	ENST00000262518.4	+	31	7085	c.6700G>T	c.(6700-6702)Gcc>Tcc	p.A2234S	SRCAP_ENST00000344771.4_Missense_Mutation_p.A2076S|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2172S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2234	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGAGACTGTGGCCAGCAAGCA	0.478													False	0	False	16:30745907	0	T	30745907	G	T	30745907	3	4	88	1	0	0	0	0	1	0	0	0	15217	1203	42	3	6814	3	SRCAP	16	30745907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5470	30745907	59608846	15626	23338											
SRCAP	10847	broad.mit.edu	37	chr16	30749384	30749384	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tggaggctgacaggacctcgGaagagctgacagaggccaag	16	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30749384G>T	ENST00000262518.4	+	34	8408	c.8023G>T	c.(8023-8025)Gaa>Taa	p.E2675*	SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2517*|SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2613*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2675	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGGACCTCGGAAGAGCTGAC	0.592													False	0	False	16:30749384	0	T	30749384	G	T	30749384	4	4	88	1	0	0	0	0	0	1	0	0	15217	1175	41	3	8149	3	SRCAP	16	30749384	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3477	30749384	59605369	15627	23339											
SRCAP	10847	broad.mit.edu	37	chr16	30750367	30750367	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccatttcaacgtccccAcccaaacggaagaggggccg	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30750367A>G	ENST00000262518.4	+	34	9391	c.9006A>G	c.(9004-9006)ccA>ccG	p.P3002P	SRCAP_ENST00000344771.4_Silent_p.P2844P|SRCAP_ENST00000395059.2_Silent_p.P2940P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3002	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAACGTCCCCACCCAAACGGA	0.592													False	0	True	16:30750367	0	G	30750367	A	G	30750367	2	3	88	1	0	0	0	0	0	0	0	1	15217	146	6	4		4	SRCAP	16	30750367	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	983	30750367	59604386	15628	23340											
PHKG2	5261	broad.mit.edu	37	chr16	30771464	30771464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcagtggattggaaagCtgatggcttgtgtatgatga	16	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30771464C>T	ENST00000424889.3	+	11	1318	c.1108C>T	c.(1108-1110)Ctg>Ttg	p.L370L	C16orf93_ENST00000541260.1_Intron|C16orf93_ENST00000545825.1_3'UTR|C16orf93_ENST00000543610.1_Intron|PHKG2_ENST00000563588.1_3'UTR	NM_001172432.1	NP_001165903.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	0	Calmodulin-binding (domain-C) (By similarity).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			gattggaaagctgatggcttg	0.418													False	0	False	16:30771464	0	T	30771464	C	T	30771464	2	4	88	1	0	0	0	0	0	0	0	1	11916	796	28	2		2	PHKG2	16	30771464	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21097	30771464	59583289	15629	23341											
RNF40	9810	broad.mit.edu	37	chr16	30778156	30778156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggagtatgagatgctgcGcatcgagtttgagcagaatc	13	7	0	3	rs11556801		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30778156G>A	ENST00000324685.6	+	11	1823	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	RNF40_ENST00000357890.5_Missense_Mutation_p.R363H|RNF40_ENST00000563683.1_Missense_Mutation_p.R423H|RNF40_ENST00000402121.3_Missense_Mutation_p.R155H	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	463			R -> H (in dbSNP:rs11556801).		histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GAGATGCTGCGCATCGAGTTT	0.612													False	0	False	16:30778156	0	A	30778156	G	A	30778156	3	1	88	1	0	0	0	0	1	0	0	0	13572	1087	38	1	1426	1	RNF40	16	30778156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6692	30778156	59576597	15630	23342											
ZNF629	23361	broad.mit.edu	37	chr16	30794890	30794890	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcgccggtgtgggatcgCtggtgcttgatgaggttggt	17	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30794890C>T	ENST00000262525.4	-	3	966	c.759G>A	c.(757-759)caG>caA	p.Q253Q		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TGTGGGATCGCTGGTGCTTGA	0.642													False	0	False	16:30794890	0	T	30794890	C	T	30794890	2	4	88	1	0	0	0	0	0	0	0	1	18136	796	28	2		2	ZNF629	16	30794890	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16734	30794890	59559863	15631	23343											
HSD3B7	80270	broad.mit.edu	37	chr16	30997931	30997931	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctcccaccaggggcaAcgaagacaccccatacgaag	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30997931A>G	ENST00000262520.6	+	5	727	c.437A>G	c.(436-438)aAc>aGc	p.N146S	HSD3B7_ENST00000297679.5_Missense_Mutation_p.N146S|HSD3B7_ENST00000353250.5_Missense_Mutation_p.N146S	NM_001142777.1	NP_001136249.1	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	146					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACCAGGGGCAACGAAGACACC	0.602													False	0	False	16:30997931	0	G	30997931	A	G	30997931	3	3	88	1	0	0	0	0	1	0	0	0	7439	43	2	4	451	4	HSD3B7	16	30997931	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203041	30997931	59356822	15632	23344											
HSD3B7	80270	broad.mit.edu	37	chr16	30999191	30999191	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacgatggatcaccctacaGgagctacgaggatttcaaca	9	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30999191G>T	ENST00000297679.5	+	7	890	c.797G>T	c.(796-798)aGg>aTg	p.R266M	HSD3B7_ENST00000262520.6_3'UTR|HSD3B7_ENST00000353250.5_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	266					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCACCCTACAGGAGCTACGAG	0.632													False	0	False	16:30999191	0	T	30999191	G	T	30999191	3	4	88	1	0	0	0	0	1	0	0	0	7439	1000	35	3	819	3	HSD3B7	16	30999191	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1260	30999191	59355562	15633	23345											
HSD3B7	80270	broad.mit.edu	37	chr16	30999413	30999413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccgacaaggctcagcGccatttcggctatgagcccc	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30999413G>A	ENST00000297679.5	+	7	1112	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	HSD3B7_ENST00000262520.6_3'UTR|HSD3B7_ENST00000353250.5_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	340					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	p.R340L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAGGCTCAGCGCCATTTCGGC	0.647													False	0	False	16:30999413	0	A	30999413	G	A	30999413	3	1	88	1	0	0	0	0	1	0	0	0	7439	1087	38	1	1041	1	HSD3B7	16	30999413	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222	30999413	59355340	15634	23346											
STX4	6810	broad.mit.edu	37	chr16	31050965	31050965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggagaaccagaagaaggCgaggaaggtgagcctcccag	15	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31050965C>T	ENST00000394998.1	+	10	1143	c.800C>T	c.(799-801)gCg>gTg	p.A267V	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.A269V	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	269	Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CAGAAGAAGGCGAGGAAGGTG	0.587													False	0	False	16:31050965	0	T	31050965	C	T	31050965	3	4	88	1	0	0	0	0	1	0	0	0	15429	768	27	1	840	1	STX4	16	31050965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51552	31050965	59303788	15635	23347											
STX4	6810	broad.mit.edu	37	chr16	31051083	31051083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgtccatcaccgtcGtcctcctagcagtcatcatt	7	14	4	0	rs149552887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31051083G>A	ENST00000394998.1	+	11	1190	c.847G>A	c.(847-849)Gtc>Atc	p.V283I	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.V285I	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	285	Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CATCACCGTCGTCCTCCTAGC	0.602													False	0	False	16:31051083	0	A	31051083	G	A	31051083	3	1	88	1	0	0	0	0	1	0	0	0	15429	1145	40	1	891	1	STX4	16	31051083	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	31051083	59303670	15636	23348											
ZNF668	79759	broad.mit.edu	37	chr16	31072498	31072498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcttgcgcaagtcgctgGcactcaagaaggccttggga	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31072498G>A	ENST00000538906.1	-	3	2535	c.1751C>T	c.(1750-1752)gCc>gTc	p.A584V	ZNF668_ENST00000300849.4_Missense_Mutation_p.A584V|ZNF668_ENST00000539836.3_Missense_Mutation_p.A607V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A584V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A584V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A607V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAAGTCGCTGGCACTCAAGAA	0.637													False	0	False	16:31072498	0	A	31072498	G	A	31072498	3	1	88	1	0	0	0	0	1	0	0	0	18158	1203	42	2	112	2	ZNF668	16	31072498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21415	31072498	59282255	15637	23349											
ZNF668	79759	broad.mit.edu	37	chr16	31072558	31072558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcactgagctgtgagtgCggctgtgtttgcgcagccca	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31072558C>T	ENST00000538906.1	-	3	2475	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	ZNF668_ENST00000300849.4_Missense_Mutation_p.R564H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R587H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R564H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R564H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R587H	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTGTGAGTGCGGCTGTGTTT	0.667													False	0	False	16:31072558	0	T	31072558	C	T	31072558	3	4	88	1	0	0	0	0	1	0	0	0	18158	768	27	1	172	1	ZNF668	16	31072558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	31072558	59282195	15638	23350											
ZNF668	79759	broad.mit.edu	37	chr16	31075549	31075549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagggcctaggcttggccgCggagcctgacaccttctccc	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31075549C>T	ENST00000538906.1	-	2	1016	c.232G>A	c.(232-234)Gcg>Acg	p.A78T	ZNF668_ENST00000300849.4_Missense_Mutation_p.A78T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A101T|ZNF668_ENST00000394983.2_Missense_Mutation_p.A78T|ZNF668_ENST00000535577.1_Missense_Mutation_p.A78T|ZNF668_ENST00000426488.2_Missense_Mutation_p.A101T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCTTGGCCGCGGAGCCTGAC	0.657													False	0	False	16:31075549	0	T	31075549	C	T	31075549	3	4	88	1	0	0	0	0	1	0	0	0	18158	768	27	1	1635	1	ZNF668	16	31075549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2991	31075549	59279204	15639	23351											
ZNF646	9726	broad.mit.edu	37	chr16	31087864	31087864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcggacccacgagactggCcttttcccctgtaccacctg	9	17	0	1	rs141568956	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31087864C>T	ENST00000394979.2	+	1	642	c.219C>T	c.(217-219)ggC>ggT	p.G73G	ZNF646_ENST00000300850.5_Silent_p.G73G			O15015	ZN646_HUMAN	zinc finger protein 646	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACGAGACTGGCCTTTTCCCCT	0.627													False	0	False	16:31087864	0	T	31087864	C	T	31087864	2	4	88	1	0	0	0	0	0	0	0	1	18145	726	26	2		2	ZNF646	16	31087864	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12315	31087864	59266889	15640	23352											
ZNF646	9726	broad.mit.edu	37	chr16	31088351	31088351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcccctcctgctgaggagGagcggcggtacaaatgtagt	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31088351G>A	ENST00000394979.2	+	1	1129	c.706G>A	c.(706-708)Gag>Aag	p.E236K	ZNF646_ENST00000300850.5_Missense_Mutation_p.E236K			O15015	ZN646_HUMAN	zinc finger protein 646	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGCTGAGGAGGAGCGGCGGTA	0.597													False	0	True	16:31088351	0	A	31088351	G	A	31088351	3	1	88	1	0	0	0	0	1	0	0	0	18145	1175	41	2	708	2	ZNF646	16	31088351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	487	31088351	59266402	15641	23353											
ZNF646	9726	broad.mit.edu	37	chr16	31089384	31089384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacatatctgtagcatctGtgggctgctctttgaagacg	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31089384G>A	ENST00000394979.2	+	1	2162	c.1739G>A	c.(1738-1740)tGt>tAt	p.C580Y	ZNF646_ENST00000300850.5_Missense_Mutation_p.C580Y			O15015	ZN646_HUMAN	zinc finger protein 646	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGTAGCATCTGTGGGCTGCTC	0.532													False	0	False	16:31089384	0	A	31089384	G	A	31089384	3	1	88	1	0	0	0	0	1	0	0	0	18145	1377	48	2	1741	2	ZNF646	16	31089384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1033	31089384	59265369	15642	23354											
PRSS53	339105	broad.mit.edu	37	chr16	31096484	31096484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctgacaccagggctccGccacaggccagctgtccctg	10	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31096484G>A	ENST00000280606.6	-	7	1134	c.981C>T	c.(979-981)ggC>ggT	p.G327G		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	327	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CCAGGGCTCCGCCACAGGCCA	0.667													False	0	False	16:31096484	0	A	31096484	G	A	31096484	2	1	88	1	0	0	0	0	0	0	0	1	12708	1074	38	1		1	PRSS53	16	31096484	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7100	31096484	59258269	15643	23355											
VKORC1	79001	broad.mit.edu	37	chr16	31104708	31104708	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggatgctgtcctgtcccaGcacatgctccaccagcccga	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31104708G>T	ENST00000319788.7	-	2	418	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	VKORC1_ENST00000394971.3_Missense_Mutation_p.A101D|VKORC1_ENST00000394975.2_Missense_Mutation_p.L70M|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.L70M|VKORC1_ENST00000300851.6_Missense_Mutation_p.A90D|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000498155.1_Missense_Mutation_p.A102D			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	70					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TCCTGTCCCAGCACATGCTCC	0.592													False	0	False	16:31104708	0	T	31104708	G	T	31104708	3	4	88	1	0	0	0	0	1	0	0	0	17256	962	34	3	291	3	VKORC1	16	31104708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8224	31104708	59250045	15644	23356											
VKORC1	79001	broad.mit.edu	37	chr16	31104728	31104728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgctccaccagcccgAaacccctgccccacctggca	7	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31104728A>G	ENST00000319788.7	-	2	398	c.188T>C	c.(187-189)tTc>tCc	p.F63S	VKORC1_ENST00000394971.3_Silent_p.F94F|VKORC1_ENST00000394975.2_Missense_Mutation_p.F63S|RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.F63S|VKORC1_ENST00000300851.6_Silent_p.F83F|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000498155.1_Silent_p.F95F			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	63					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CACCAGCCCGAAACCCCTGCC	0.557													False	0	True	16:31104728	0	G	31104728	A	G	31104728	3	3	88	1	0	0	0	0	1	0	0	0	17256	246	9	4	311	4	VKORC1	16	31104728	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20	31104728	59250025	15645	23357											
PRSS36	146547	broad.mit.edu	37	chr16	31157151	31157151	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgggtagccagcacacaGcatccctggcaatatctgga	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31157151G>T	ENST00000268281.4	-	6	737	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	PRSS36_ENST00000569305.1_Missense_Mutation_p.L227M|PRSS36_ENST00000418068.2_Missense_Mutation_p.L227M	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	227	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCAGCACACAGCATCCCTGGC	0.617													False	0	True	16:31157151	0	T	31157151	G	T	31157151	3	4	88	1	0	0	0	0	1	0	0	0	12701	962	34	3	1928	3	PRSS36	16	31157151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52423	31157151	59197602	15646	23358											
FUS	2521	broad.mit.edu	37	chr16	31202336	31202336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggaggctatgatcgaggCggctaccggggccgcggcgg	20	10	0	2	rs112061837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31202336C>T	ENST00000254108.7	+	14	1551	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	FUS_ENST00000380244.3_Silent_p.G481G|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Silent_p.G483G	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	482	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ATGATCGAGGCGGCTACCGGG	0.602			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								False	0	False	16:31202336	0	T	31202336	C	T	31202336	2	4	88	1	0	0	0	0	0	0	0	1	6142	755	27	1		1	FUS	16	31202336	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45185	31202336	59152417	15647	23359											
ITGAM	3684	broad.mit.edu	37	chr16	31289327	31289327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttacggaaccgggtgcaaaGcctggttctgggggcacctc	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31289327G>A	ENST00000544665.3	+	12	1324	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ITGAM_ENST00000287497.8_Missense_Mutation_p.S418N	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	418					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGGGTGCAAAGCCTGGTTCTG	0.587													False	0	True	16:31289327	0	A	31289327	G	A	31289327	3	1	88	1	0	0	0	0	1	0	0	0	7937	971	34	2	1299	2	ITGAM	16	31289327	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86991	31289327	59065426	15648	23360											
ITGAX	3687	broad.mit.edu	37	chr16	31382482	31382482	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggggtcaagacctcacccaGgatggactggtggacctggc	16	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31382482G>T	ENST00000268296.4	+	15	1909	c.1788G>T	c.(1786-1788)caG>caT	p.Q596H	ITGAX_ENST00000562522.1_Missense_Mutation_p.Q596H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	596					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACCTCACCCAGGATGGACTGG	0.652													False	0	False	16:31382482	0	T	31382482	G	T	31382482	3	4	88	1	0	0	0	0	1	0	0	0	7939	991	35	3	1846	3	ITGAX	16	31382482	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93155	31382482	58972271	15649	23361											
ITGAD	3681	broad.mit.edu	37	chr16	31422117	31422117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtcctgggggccccccGctaccagcataccgggaagg	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31422117G>A	ENST00000389202.2	+	12	1323	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	425					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCCCCCCGCTACCAGCAT	0.642													False	0	True	16:31422117	0	A	31422117	G	A	31422117	3	1	88	1	0	0	0	0	1	0	0	0	7934	1087	38	1	1320	1	ITGAD	16	31422117	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39635	31422117	58932636	15650	23362											
ARMC5	79798	broad.mit.edu	37	chr16	31478178	31478178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgctggctgtggtgatgGggattgagttgggggcaagg	20	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31478178G>T	ENST00000408912.3	+	8	3378	c.3061G>T	c.(3061-3063)Ggg>Tgg	p.G1021W	ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000412665.2_Missense_Mutation_p.G570W|ARMC5_ENST00000538189.1_Missense_Mutation_p.G958W|ARMC5_ENST00000268314.4_Missense_Mutation_p.G926W|ARMC5_ENST00000563544.1_Missense_Mutation_p.G926W			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	926							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGTGGTGATGGGGATTGAGTT	0.637													False	0	True	16:31478178	0	T	31478178	G	T	31478178	3	4	88	1	0	0	0	0	1	0	0	0	958	1232	43	3	3112	3	ARMC5	16	31478178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56061	31478178	58876575	15651	23363											
SLC5A2	6524	broad.mit.edu	37	chr16	31499495	31499495	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccgcattctgtacccagGtaacatccctgccccgcccc	7	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31499495G>T	ENST00000330498.3	+	8	1040		c.e8+1		AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2						carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CTGTACCCAGGTAACATCCCT	0.627													False	0	False	16:31499495	0	T	31499495	G	T	31499495	5	4	88	1	0	0	0	0	0	0	1	0	14745	1275	44	3	1052	3	SLC5A2	16	31499495	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21317	31499495	58855258	15652	23364											
SLC5A2	6524	broad.mit.edu	37	chr16	31501753	31501753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcggcagcagccaggcGgctggaggacatcagcgagg	19	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31501753G>A	ENST00000330498.3	+	14	1935	c.1916G>A	c.(1915-1917)cGg>cAg	p.R639Q	C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000567994.1_3'UTR|SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000570164.1_3'UTR	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	639					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCAGCCAGGCGGCTGGAGGAC	0.647													False	0	False	16:31501753	0	A	31501753	G	A	31501753	3	1	88	1	0	0	0	0	1	0	0	0	14745	1116	39	1	1970	1	SLC5A2	16	31501753	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2258	31501753	58853000	15653	23365											
AHSP	51327	broad.mit.edu	37	chr16	31539464	31539464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctacccaggcagatgGctcttcttaaggccaataag	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31539464G>A	ENST00000302312.4	+	2	107	c.4G>A	c.(4-6)Gct>Act	p.A2T	AHSP_ENST00000569954.1_Intron	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	2					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CAGGCAGATGGCTCTTCTTAA	0.473													False	0	False	16:31539464	0	A	31539464	G	A	31539464	3	1	88	1	0	0	0	0	1	0	0	0	421	1203	42	2	6	2	AHSP	16	31539464	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37711	31539464	58815289	15654	23366											
ZNF720	124411	broad.mit.edu	37	chr16	31766669	31766669	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attgtagttcacgccttactCaacatcaaagaattcatacc	4	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31766669C>T	ENST00000399681.3	+	6	1536	c.1057C>T	c.(1057-1059)Caa>Taa	p.Q353*	ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000316491.9_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000534369.1_Intron			Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						ACGCCTTACTCAACATCAAAG	0.373													False	0	False	16:31766669	0	T	31766669	C	T	31766669	4	4	88	1	0	0	0	0	0	1	0	0	18204	841	29	2		2	ZNF720	16	31766669	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227205	31766669	58588084	15655	23367											
ZNF267	10308	broad.mit.edu	37	chr16	31925867	31925867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttcattccaaaaagtgatAtcgaggagacatgggagctg	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31925867A>G	ENST00000300870.10	+	4	506	c.297A>G	c.(295-297)atA>atG	p.I99M	ZNF267_ENST00000394846.3_3'UTR	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	99					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAAAGTGATATCGAGGAGAC	0.373													False	0	False	16:31925867	0	G	31925867	A	G	31925867	3	3	88	1	0	0	0	0	1	0	0	0	17889	439	16	4	311	4	ZNF267	16	31925867	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	159198	31925867	58428886	15656	23368											
ZNF267	10308	broad.mit.edu	37	chr16	31926727	31926727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaaatgtaaagcatgtaGcaaatcttttactcgttcct	5	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31926727G>A	ENST00000300870.10	+	4	1366	c.1157G>A	c.(1156-1158)aGc>aAc	p.S386N		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	386					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAGCATGTAGCAAATCTTTT	0.363													False	0	False	16:31926727	0	A	31926727	G	A	31926727	3	1	88	1	0	0	0	0	1	0	0	0	17889	971	34	2	1171	2	ZNF267	16	31926727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	860	31926727	58428026	15657	23369											
ZNF267	10308	broad.mit.edu	37	chr16	31927189	31927189	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatcttattgtgcatgagaGaattcatactggagagaaac	9	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31927189G>T	ENST00000300870.10	+	4	1828	c.1619G>T	c.(1618-1620)aGa>aTa	p.R540I		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	540					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGCATGAGAGAATTCATACT	0.343													False	0	True	16:31927189	0	T	31927189	G	T	31927189	3	4	88	1	0	0	0	0	1	0	0	0	17889	942	33	3	1633	3	ZNF267	16	31927189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	462	31927189	58427564	15658	23370											
ZNF267	10308	broad.mit.edu	37	chr16	31927755	31927755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagcctttaactctaggTcatacctcattgcacatcag	6	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31927755T>C	ENST00000300870.10	+	4	2394	c.2185T>C	c.(2185-2187)Tca>Cca	p.S729P		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	729					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TAACTCTAGGTCATACCTCAT	0.388													False	0	False	16:31927755	0	C	31927755	T	C	31927755	3	2	88	1	0	0	0	0	1	0	0	0	17889	1667	58	4	2199	4	ZNF267	16	31927755	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566	31927755	58426998	15659	23371											
SHCBP1	79801	broad.mit.edu	37	chr16	46629512	46629512	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attagaaactctgctgatgtCcgcactgtgactccggtcgt	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46629512C>T	ENST00000303383.3	-	10	1682	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	472										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTGCTGATGTCCGCACTGTGA	0.453													False	0	False	16:46629512	0	T	46629512	C	T	46629512	2	4	88	1	0	0	0	0	0	0	0	1	14355	842	30	2		2	SHCBP1	16	46629512	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14701757	46629512	43725241	15660	23372											
C16orf87	388272	broad.mit.edu	37	chr16	46843515	46843515	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcttgatttgttcatacCtctttcttcctcatgttttt	4	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46843515C>T	ENST00000285697.4	-	3	607	c.346G>A	c.(346-348)Gag>Aag	p.E116K	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	116										large_intestine(4)|urinary_tract(1)	5						TTGTTCATACCTCTTTCTTCC	0.383													False	0	True	16:46843515	0	T	46843515	C	T	46843515	5	4	88	1	0	0	0	0	0	0	1	0	1850	695	24	2	126	2	C16orf87	16	46843515	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	214003	46843515	43511238	15661	23373											
GPT2	84706	broad.mit.edu	37	chr16	46918680	46918680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggtccccggacccccaGctcctggggccgcagccaga	13	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46918680G>T	ENST00000340124.4	+	2	165	c.53G>T	c.(52-54)aGc>aTc	p.S18I		NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	18					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGGACCCCCAGCTCCTGGGGC	0.721													False	0	False	16:46918680	0	T	46918680	G	T	46918680	3	4	88	1	0	0	0	0	1	0	0	0	6785	971	34	3	55	3	GPT2	16	46918680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75165	46918680	43436073	15662	23374											
DNAJA2	10294	broad.mit.edu	37	chr16	47001552	47001552	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacagctccagactttccGccttggctaaagcaagcaca	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47001552G>A	ENST00000317089.5	-	5	665	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	150					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CAGACTTTCCGCCTTGGCTAA	0.463													False	0	False	16:47001552	0	A	47001552	G	A	47001552	2	1	88	1	0	0	0	0	0	0	0	1	4642	1074	38	1		1	DNAJA2	16	47001552	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82872	47001552	43353201	15663	23375											
ITFG1	81533	broad.mit.edu	37	chr16	47195737	47195737	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtccactcttgttttcGtatagactggaagaagaatt	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47195737G>A	ENST00000320640.6	-	16	1813	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Nonsense_Mutation_p.R416*|RP11-329J18.2_ENST00000565694.1_RNA|RP11-329J18.2_ENST00000564705.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	529						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TCTTGTTTTCGTATAGACTGG	0.328													False	0	False	16:47195737	0	A	47195737	G	A	47195737	4	1	88	1	0	0	0	0	0	1	0	0	7919	1153	40	1	265	1	ITFG1	16	47195737	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194185	47195737	43159016	15664	23376											
PHKB	5257	broad.mit.edu	37	chr16	47622859	47622859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcagttatcctgcatTtgccctggatgatgaagttc	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47622859T>C	ENST00000455779.1	+	11	1078	c.893T>C	c.(892-894)tTt>tCt	p.F298S	PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000299167.8_Missense_Mutation_p.F305S|PHKB_ENST00000323584.5_Missense_Mutation_p.F305S|PHKB_ENST00000566044.1_Missense_Mutation_p.F298S			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	305					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TATCCTGCATTTGCCCTGGAT	0.423													False	0	True	16:47622859	0	C	47622859	T	C	47622859	3	2	88	1	0	0	0	0	1	0	0	0	11914	1841	64	4	1011	4	PHKB	16	47622859	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	427122	47622859	42731894	15665	23377											
PHKB	5257	broad.mit.edu	37	chr16	47703196	47703196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccaagagtgattcaaaAcatcatctattataagtgta	6	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47703196A>G	ENST00000455779.1	+	27	2662	c.2477A>G	c.(2476-2478)aAc>aGc	p.N826S	PHKB_ENST00000299167.8_Missense_Mutation_p.N833S|PHKB_ENST00000323584.5_Missense_Mutation_p.N833S|PHKB_ENST00000566044.1_Missense_Mutation_p.N826S			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	833					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTGATTCAAAACATCATCTAT	0.403													False	0	True	16:47703196	0	G	47703196	A	G	47703196	3	3	88	1	0	0	0	0	1	0	0	0	11914	43	2	4	2754	4	PHKB	16	47703196	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80337	47703196	42651557	15666	23378											
PHKB	5257	broad.mit.edu	37	chr16	47727313	47727313	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggctgaacaggcgtcagatCgatgggtctttgaatagaac	13	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47727313C>T	ENST00000455779.1	+	29	2954	c.2769C>T	c.(2767-2769)atC>atT	p.I923I	PHKB_ENST00000299167.8_Silent_p.I930I|PHKB_ENST00000323584.5_Silent_p.I930I|PHKB_ENST00000566044.1_Silent_p.I923I			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	930	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGCGTCAGATCGATGGGTCTT	0.483													False	0	False	16:47727313	0	T	47727313	C	T	47727313	2	4	88	1	0	0	0	0	0	0	0	1	11914	874	31	1		1	PHKB	16	47727313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24117	47727313	42627440	15667	23379											
PHKB	5257	broad.mit.edu	37	chr16	47730390	47730390	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccacagtacagacagatCgttgtagaggtgagtagtaa	12	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47730390C>T	ENST00000455779.1	+	30	3158	c.2973C>T	c.(2971-2973)atC>atT	p.I991I	PHKB_ENST00000299167.8_Silent_p.I998I|PHKB_ENST00000323584.5_Silent_p.I998I|PHKB_ENST00000566044.1_Silent_p.I991I			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	998					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ACAGACAGATCGTTGTAGAGG	0.423													False	0	False	16:47730390	0	T	47730390	C	T	47730390	2	4	88	1	0	0	0	0	0	0	0	1	11914	874	31	1		1	PHKB	16	47730390	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3077	47730390	42624363	15668	23380											
ABCC12	94160	broad.mit.edu	37	chr16	48125031	48125031	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgcactaatttcttacCgaaatgtattccctgagcag	7	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48125031C>T	ENST00000311303.3	-	23	3630	c.3285G>A	c.(3283-3285)tcG>tcA	p.S1095S	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1095						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AATTTCTTACCGAAATGTATT	0.458													False	0	False	16:48125031	0	T	48125031	C	T	48125031	5	4	88	1	0	0	0	0	0	0	1	0	52	666	23	1	822	1	ABCC12	16	48125031	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	394641	48125031	42229722	15669	23381											
ABCC12	94160	broad.mit.edu	37	chr16	48138236	48138236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacggttcattagcctgCcagtgggagtcgtgtcaaag	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48138236C>T	ENST00000311303.3	-	20	3062	c.2717G>A	c.(2716-2718)gGc>gAc	p.G906D	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	906	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CATTAGCCTGCCAGTGGGAGT	0.473													False	0	False	16:48138236	0	T	48138236	C	T	48138236	3	4	88	1	0	0	0	0	1	0	0	0	52	739	26	2	1402	2	ABCC12	16	48138236	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13205	48138236	42216517	15670	23382											
ABCC12	94160	broad.mit.edu	37	chr16	48149406	48149406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaagacgtgcttccccaCgtgggcgtccacggccgaca	11	16	1	1	rs147110729		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48149406C>T	ENST00000311303.3	-	13	2254	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	ABCC12_ENST00000416054.1_Silent_p.T612T|ABCC12_ENST00000448542.1_Missense_Mutation_p.V637M	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	637	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGCTTCCCCACGTGGGCGTCC	0.622													False	0	False	16:48149406	0	T	48149406	C	T	48149406	3	4	88	1	0	0	0	0	1	0	0	0	52	536	19	1	2238	1	ABCC12	16	48149406	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11170	48149406	42205347	15671	23383											
ABCC11	85320	broad.mit.edu	37	chr16	48221197	48221197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgacaatcaacaggacggCgatcaccattaaggacagga	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48221197C>T	ENST00000394747.1	-	20	3197	c.2848G>A	c.(2848-2850)Gcc>Acc	p.A950T	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.A950T|ABCC11_ENST00000356608.2_Missense_Mutation_p.A950T|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.A950T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	950	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AACAGGACGGCGATCACCATT	0.463													False	0	False	16:48221197	0	T	48221197	C	T	48221197	3	4	88	1	0	0	0	0	1	0	0	0	51	768	27	1	1340	1	ABCC11	16	48221197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71791	48221197	42133556	15672	23384											
LONP2	83752	broad.mit.edu	37	chr16	48290601	48290601	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcttccaagggaagctttAccagacatcttgacatcaat	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48290601A>G	ENST00000285737.4	+	3	642	c.549A>G	c.(547-549)ttA>ttG	p.L183L	LONP2_ENST00000535754.1_Intron	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	183	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGGAAGCTTTACCAGACATCT	0.403													False	0	True	16:48290601	0	G	48290601	A	G	48290601	2	3	88	1	0	0	0	0	0	0	0	1	8955	388	14	4		4	LONP2	16	48290601	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	69404	48290601	42064152	15673	23385											
LONP2	83752	broad.mit.edu	37	chr16	48381426	48381426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctttcaaggtatctcaGcgtttgagtcagccaggagt	10	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48381426G>A	ENST00000285737.4	+	13	2040	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q	LONP2_ENST00000535754.1_Silent_p.Q605Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	649					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGGTATCTCAGCGTTTGAGTC	0.498													False	0	False	16:48381426	0	A	48381426	G	A	48381426	2	1	88	1	0	0	0	0	0	0	0	1	8955	962	34	2		2	LONP2	16	48381426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90825	48381426	41973327	15674	23386											
LONP2	83752	broad.mit.edu	37	chr16	48382140	48382140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcactttttagtgggcGgctggtacgttcagatgtag	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48382140G>A	ENST00000285737.4	+	14	2369	c.2276G>A	c.(2275-2277)cGg>cAg	p.R759Q	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.R715Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	759					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTAGTGGGCGGCTGGTACGT	0.423													False	0	False	16:48382140	0	A	48382140	G	A	48382140	3	1	88	1	0	0	0	0	1	0	0	0	8955	1116	39	1	2330	1	LONP2	16	48382140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	714	48382140	41972613	15675	23387											
LONP2	83752	broad.mit.edu	37	chr16	48385520	48385520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattaaagacaaagtgctggCggcacacagagcgggactga	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48385520C>T	ENST00000285737.4	+	15	2459	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.A745V	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	789					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAAGTGCTGGCGGCACACAGA	0.453													False	0	False	16:48385520	0	T	48385520	C	T	48385520	3	4	88	1	0	0	0	0	1	0	0	0	8955	768	27	1	2424	1	LONP2	16	48385520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3380	48385520	41969233	15676	23388											
N4BP1	9683	broad.mit.edu	37	chr16	48587468	48587468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtgacattaggatcacGccttgttctccactgaggga	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48587468G>A	ENST00000262384.3	-	3	2238	c.2002C>T	c.(2002-2004)Cgt>Tgt	p.R668C		NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	668					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTAGGATCACGCCTTGTTCTC	0.363													False	0	False	16:48587468	0	A	48587468	G	A	48587468	3	1	88	1	0	0	0	0	1	0	0	0	10176	1087	38	1	708	1	N4BP1	16	48587468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201948	48587468	41767285	15677	23389											
C16orf78	123970	broad.mit.edu	37	chr16	49407930	49407930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagactgctgaagataggcGcatgtctgacctcacctgtg	12	10	2	4	rs144505396	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49407930G>A	ENST00000299191.3	+	1	197	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	27										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAAGATAGGCGCATGTCTGAC	0.512													False	0	False	16:49407930	0	A	49407930	G	A	49407930	3	1	88	1	0	0	0	0	1	0	0	0	1845	1087	38	1	82	1	C16orf78	16	49407930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	820462	49407930	40946823	15678	23390											
C16orf78	123970	broad.mit.edu	37	chr16	49433071	49433071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttatccaaggagaacattcGgaccttgctcaagttgtgca	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49433071G>A	ENST00000299191.3	+	5	797	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	227										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAGAACATTCGGACCTTGCTC	0.448													False	0	False	16:49433071	0	A	49433071	G	A	49433071	3	1	88	1	0	0	0	0	1	0	0	0	1845	1116	39	1	698	1	C16orf78	16	49433071	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25141	49433071	40921682	15679	23391											
ZNF423	23090	broad.mit.edu	37	chr16	49557603	49557603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagatcttgtcctcctgccCgtgcacggcaaagatgtgct	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49557603C>T	ENST00000561648.1	-	7	3810	c.3757G>A	c.(3757-3759)Ggg>Agg	p.G1253R	ZNF423_ENST00000562520.1_Missense_Mutation_p.G1193R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1136R|ZNF423_ENST00000262383.2_Missense_Mutation_p.G1253R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1193R|ZNF423_ENST00000562871.1_Missense_Mutation_p.G1193R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1253					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G1253W(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCCTCCTGCCCGTGCACGGCA	0.612													False	0	True	16:49557603	0	T	49557603	C	T	49557603	3	4	88	1	0	0	0	0	1	0	0	0	17981	652	23	1	105	1	ZNF423	16	49557603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124532	49557603	40797150	15680	23392											
ZNF423	23090	broad.mit.edu	37	chr16	49669765	49669765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacccacctgtccgttggCgctgcgggccatgcagccgg	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49669765C>T	ENST00000561648.1	-	4	3351	c.3298G>A	c.(3298-3300)Gcc>Acc	p.A1100T	ZNF423_ENST00000562520.1_Missense_Mutation_p.A1040T|ZNF423_ENST00000567169.1_Missense_Mutation_p.A983T|ZNF423_ENST00000535559.1_Missense_Mutation_p.A983T|ZNF423_ENST00000262383.2_Missense_Mutation_p.A1100T|ZNF423_ENST00000563137.2_Missense_Mutation_p.A1040T|ZNF423_ENST00000562871.1_Missense_Mutation_p.A1040T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1100					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGTCCGTTGGCGCTGCGGGCC	0.697													False	0	False	16:49669765	0	T	49669765	C	T	49669765	3	4	88	1	0	0	0	0	1	0	0	0	17981	768	27	1	576	1	ZNF423	16	49669765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112162	49669765	40684988	15681	23393											
ZNF423	23090	broad.mit.edu	37	chr16	49670091	49670091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggggcatcttgcagatgCgacaggtgcccgtgtccagg	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49670091C>T	ENST00000561648.1	-	4	3025	c.2972G>A	c.(2971-2973)cGc>cAc	p.R991H	ZNF423_ENST00000562520.1_Missense_Mutation_p.R931H|ZNF423_ENST00000567169.1_Missense_Mutation_p.R874H|ZNF423_ENST00000535559.1_Missense_Mutation_p.R874H|ZNF423_ENST00000262383.2_Missense_Mutation_p.R991H|ZNF423_ENST00000563137.2_Missense_Mutation_p.R931H|ZNF423_ENST00000562871.1_Missense_Mutation_p.R931H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	991					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTTGCAGATGCGACAGGTGCC	0.597													False	0	False	16:49670091	0	T	49670091	C	T	49670091	3	4	88	1	0	0	0	0	1	0	0	0	17981	768	27	1	902	1	ZNF423	16	49670091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	326	49670091	40684662	15682	23394											
HEATR3	55027	broad.mit.edu	37	chr16	50102776	50102776	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctggttgcgctgctaaaaGaggtatgcagtttttacagt	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50102776G>T	ENST00000299192.7	+	3	588	c.397G>T	c.(397-399)Gag>Tag	p.E133*	HEATR3_ENST00000285767.4_Nonsense_Mutation_p.E47*	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	133							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GCTGCTAAAAGAGGTATGCAG	0.388													False	0	True	16:50102776	0	T	50102776	G	T	50102776	4	4	88	1	0	0	0	0	0	1	0	0	7076	943	33	3	407	3	HEATR3	16	50102776	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	432685	50102776	40251977	15683	23395											
HEATR3	55027	broad.mit.edu	37	chr16	50104168	50104168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattctattgagaacatagCcaatgagactgtgaacgtgc	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50104168C>T	ENST00000299192.7	+	4	670	c.479C>T	c.(478-480)gCc>gTc	p.A160V	HEATR3_ENST00000285767.4_Missense_Mutation_p.A74V	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	160							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAGAACATAGCCAATGAGACT	0.408													False	0	False	16:50104168	0	T	50104168	C	T	50104168	3	4	88	1	0	0	0	0	1	0	0	0	7076	739	26	2	493	2	HEATR3	16	50104168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1392	50104168	40250585	15684	23396											
HEATR3	55027	broad.mit.edu	37	chr16	50106618	50106618	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accaatgttgacctggctatTtcagtaggtaagtgaagaaa	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50106618T>G	ENST00000299192.7	+	5	806	c.615T>G	c.(613-615)atT>atG	p.I205M	HEATR3_ENST00000285767.4_Missense_Mutation_p.I119M	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	205							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ACCTGGCTATTTCAGTAGGTA	0.358													False	0	True	16:50106618	0	G	50106618	T	G	50106618	3	3	88	1	0	0	0	0	1	0	0	0	7076	1829	64	4	633	4	HEATR3	16	50106618	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2450	50106618	40248135	15685	23397											
HEATR3	55027	broad.mit.edu	37	chr16	50138873	50138873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgtaaagaagggagaggtaaCtatagcacagatcagctgtg	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50138873C>A	ENST00000299192.7	+	15	2135	c.1944C>A	c.(1942-1944)aaC>aaA	p.N648K	HEATR3_ENST00000285767.4_Missense_Mutation_p.N562K|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	648							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGAGAGGTAACTATAGCACAG	0.294													False	0	False	16:50138873	0	A	50138873	C	A	50138873	3	1	88	1	0	0	0	0	1	0	0	0	7076	564	20	3	2002	3	HEATR3	16	50138873	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32255	50138873	40215880	15686	23398											
ADCY7	113	broad.mit.edu	37	chr16	50338418	50338418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcaaccaccgtgagagcGtgagcagtggtgagacccac	12	12	1	3	rs79253515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50338418G>A	ENST00000394697.2	+	11	1856	c.1516G>A	c.(1516-1518)Gtg>Atg	p.V506M	ADCY7_ENST00000566433.2_Missense_Mutation_p.V506M|ADCY7_ENST00000538642.1_Missense_Mutation_p.V506M|ADCY7_ENST00000254235.3_Missense_Mutation_p.V506M|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	506					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCGTGAGAGCGTGAGCAGTGG	0.677													False	0	False	16:50338418	0	A	50338418	G	A	50338418	3	1	88	1	0	0	0	0	1	0	0	0	299	1145	40	1	1554	1	ADCY7	16	50338418	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	199545	50338418	40016335	15687	23399											
ADCY7	113	broad.mit.edu	37	chr16	50348221	50348221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctggagcggcagcatGcccacattggtgtcatggtg	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50348221G>A	ENST00000394697.2	+	24	3215	c.2875G>A	c.(2875-2877)Gcc>Acc	p.A959T	ADCY7_ENST00000254235.3_Missense_Mutation_p.A959T			P51828	ADCY7_HUMAN	adenylate cyclase 7	959	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCGGCAGCATGCCCACATTGG	0.617													False	0	True	16:50348221	0	A	50348221	G	A	50348221	3	1	88	1	0	0	0	0	1	0	0	0	299	1319	46	2	2965	2	ADCY7	16	50348221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9803	50348221	40006532	15688	23400											
BRD7	29117	broad.mit.edu	37	chr16	50402680	50402680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcttcttgtgcttcttGcccatgtccgaccgggcccc	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50402680G>A	ENST00000394688.3	-	1	165	c.6C>T	c.(4-6)ggC>ggT	p.G2G	RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000394689.2_Silent_p.G2G|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	2					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TGTGCTTCTTGCCCATGTCCG	0.771													False	0	True	16:50402680	0	A	50402680	G	A	50402680	2	1	88	1	0	0	0	0	0	0	0	1	1512	1306	46	2		2	BRD7	16	50402680	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54459	50402680	39952073	15689	23401											
NKD1	85407	broad.mit.edu	37	chr16	50583467	50583467	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccataggccgaagcacccggGtatgattccccacccctgcc	9	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50583467G>A	ENST00000268459.3	+	3	416		c.e3+1		NKD1_ENST00000564336.1_Splice_Site	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)						Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AAGCACCCGGGTATGATTCCC	0.652													False	0	True	16:50583467	0	A	50583467	G	A	50583467	5	1	88	1	0	0	0	0	0	0	1	0	10509	1275	44	2	203	2	NKD1	16	50583467	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	180787	50583467	39771286	15690	23402											
NKD1	85407	broad.mit.edu	37	chr16	50667286	50667286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctccagcaacggctccGgggcacccaggacgggagca	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50667286G>A	ENST00000268459.3	+	10	1231	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	336					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAACGGCTCCGGGGCACCCAG	0.642													False	0	True	16:50667286	0	A	50667286	G	A	50667286	3	1	88	1	0	0	0	0	1	0	0	0	10509	1116	39	1	1045	1	NKD1	16	50667286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83819	50667286	39687467	15691	23403											
NOD2	64127	broad.mit.edu	37	chr16	50733613	50733613	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacaccgtctggaataagggTacttgggcctgtcagaagct	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50733613T>C	ENST00000300589.2	+	2	393	c.288T>C	c.(286-288)ggT>ggC	p.G96G	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	96	CARD 1.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGAATAAGGGTACTTGGGCCT	0.657													False	0	True	16:50733613	0	C	50733613	T	C	50733613	2	2	88	1	0	0	0	0	0	0	0	1	10585	1625	57	4		4	NOD2	16	50733613	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	66327	50733613	39621140	15692	23404											
NOD2	64127	broad.mit.edu	37	chr16	50745198	50745198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagctgtacctgaggaagcGccatcatgagcccggggtgg	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745198G>A	ENST00000300589.2	+	4	1481	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	459	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGAGGAAGCGCCATCATGAG	0.622													False	0	False	16:50745198	0	A	50745198	G	A	50745198	3	1	88	1	0	0	0	0	1	0	0	0	10585	1087	38	1	1390	1	NOD2	16	50745198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11585	50745198	39609555	15693	23405											
NOD2	64127	broad.mit.edu	37	chr16	50745492	50745492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagactggctctgtgggGcctgggcatgtgctgctacg	18	10	1	1	rs104895436		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745492G>A	ENST00000300589.2	+	4	1775	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	557	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTCTGTGGGGCCTGGGCATG	0.637													False	0	True	16:50745492	0	A	50745492	G	A	50745492	3	1	88	1	0	0	0	0	1	0	0	0	10585	1203	42	2	1684	2	NOD2	16	50745492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294	50745492	39609261	15694	23406											
NOD2	64127	broad.mit.edu	37	chr16	50746021	50746021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtgaggccaagagcgtGcatgccatgcccgggttcat	15	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50746021G>A	ENST00000300589.2	+	4	2304	c.2199G>A	c.(2197-2199)gtG>gtA	p.V733V		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	733					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCAAGAGCGTGCATGCCATGC	0.677													False	0	True	16:50746021	0	A	50746021	G	A	50746021	2	1	88	1	0	0	0	0	0	0	0	1	10585	1306	46	2		2	NOD2	16	50746021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	529	50746021	39608732	15695	23407											
CYLD	1540	broad.mit.edu	37	chr16	50815323	50815323	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgctgtaactctttagGtatttggatgctttttgttt	10	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50815323G>T	ENST00000540145.1	+	10	2099		c.e10+1		CYLD_ENST00000566206.1_Splice_Site|CYLD_ENST00000311559.9_Splice_Site|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000569418.1_Splice_Site|CYLD_ENST00000427738.3_Splice_Site|CYLD_ENST00000564326.1_Splice_Site|CYLD_ENST00000398568.2_Splice_Site			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)						cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AACTCTTTAGGTATTTGGATG	0.383			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				False	0	False	16:50815323	0	T	50815323	G	T	50815323	5	4	88	1	0	0	0	0	0	0	1	0	4168	1275	44	3	1715	3	CYLD	16	50815323	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69302	50815323	39539430	15696	23408											
SALL1	6299	broad.mit.edu	37	chr16	51174870	51174870	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttttctttgctgggccaaGgcagacaaggagtttaaatc	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:51174870G>T	ENST00000440970.1	-	2	1403	c.972C>A	c.(970-972)gcC>gcA	p.A324A	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.A421A	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	421					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCTGGGCCAAGGCAGACAAGG	0.493													False	0	False	16:51174870	0	T	51174870	G	T	51174870	2	4	88	1	0	0	0	0	0	0	0	1	13889	987	35	3		3	SALL1	16	51174870	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	359547	51174870	39179883	15697	23409											
TOX3	27324	broad.mit.edu	37	chr16	52473589	52473589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcacttgggtggagggtgCtgagccaaccatggtcgttc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:52473589C>T	ENST00000219746.9	-	7	1563	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	TOX3_ENST00000407228.3_Missense_Mutation_p.A422T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	427					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTGGAGGGTGCTGAGCCAACC	0.532													False	0	False	16:52473589	0	T	52473589	C	T	52473589	3	4	88	1	0	0	0	0	1	0	0	0	16462	797	28	2	455	2	TOX3	16	52473589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1298719	52473589	37881164	15698	23410											
CHD9	80205	broad.mit.edu	37	chr16	53190488	53190488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggcacaccatgactttGccttatttcaggccaatgaa	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53190488G>A	ENST00000566029.1	+	2	696	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	CHD9_ENST00000398510.3_Missense_Mutation_p.A163T|CHD9_ENST00000447540.1_Missense_Mutation_p.A163T|CHD9_ENST00000564845.1_Missense_Mutation_p.A163T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	163					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CCATGACTTTGCCTTATTTCA	0.398													False	0	True	16:53190488	0	A	53190488	G	A	53190488	3	1	88	1	0	0	0	0	1	0	0	0	3355	1319	46	2	489	2	CHD9	16	53190488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	716899	53190488	37164265	15699	23411											
CHD9	80205	broad.mit.edu	37	chr16	53191042	53191042	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcatcacatcctcagggTaattatagcaattcaaaatt	4	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53191042T>C	ENST00000566029.1	+	2	1250	c.1041T>C	c.(1039-1041)ggT>ggC	p.G347G	CHD9_ENST00000398510.3_Silent_p.G347G|CHD9_ENST00000447540.1_Silent_p.G347G|CHD9_ENST00000564845.1_Silent_p.G347G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	347					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATCCTCAGGGTAATTATAGCA	0.358													False	0	True	16:53191042	0	C	53191042	T	C	53191042	2	2	88	1	0	0	0	0	0	0	0	1	3355	1625	57	4		4	CHD9	16	53191042	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	554	53191042	37163711	15700	23412											
CHD9	80205	broad.mit.edu	37	chr16	53288395	53288395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagaacaaagcagttaaaGtctacagactggtaactcgt	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53288395G>A	ENST00000566029.1	+	18	4116	c.3907G>A	c.(3907-3909)Gtc>Atc	p.V1303I	CHD9_ENST00000398510.3_Missense_Mutation_p.V1303I|CHD9_ENST00000447540.1_Missense_Mutation_p.V1303I|CHD9_ENST00000564845.1_Missense_Mutation_p.V1303I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1303	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGCAGTTAAAGTCTACAGACT	0.388													False	0	True	16:53288395	0	A	53288395	G	A	53288395	3	1	88	1	0	0	0	0	1	0	0	0	3355	1029	36	2	3973	2	CHD9	16	53288395	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97353	53288395	37066358	15701	23413											
CHD9	80205	broad.mit.edu	37	chr16	53326775	53326775	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatggagggtgataaagtatAttggcctactcaatcagctt	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53326775A>G	ENST00000566029.1	+	29	5530	c.5321A>G	c.(5320-5322)tAt>tGt	p.Y1774C	CHD9_ENST00000398510.3_Missense_Mutation_p.Y1774C|CHD9_ENST00000447540.1_Missense_Mutation_p.Y1774C|CHD9_ENST00000564845.1_Missense_Mutation_p.Y1774C			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1774					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATAAAGTATATTGGCCTACT	0.368													False	0	False	16:53326775	0	G	53326775	A	G	53326775	3	3	88	1	0	0	0	0	1	0	0	0	3355	449	16	4	5431	4	CHD9	16	53326775	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38380	53326775	37027978	15702	23414											
CHD9	80205	broad.mit.edu	37	chr16	53338106	53338106	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcagtcttctgaagaagaatCtatgtcttctgtggaaacca	8	8	6	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53338106C>A	ENST00000566029.1	+	31	6397	c.6188C>A	c.(6187-6189)tCt>tAt	p.S2063Y	CHD9_ENST00000398510.3_Missense_Mutation_p.S2063Y|CHD9_ENST00000447540.1_Missense_Mutation_p.S2063Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S2063Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2063					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAGAAGAATCTATGTCTTCT	0.408													False	0	False	16:53338106	0	A	53338106	C	A	53338106	3	1	88	1	0	0	0	0	1	0	0	0	3355	913	32	3	6306	3	CHD9	16	53338106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11331	53338106	37016647	15703	23415											
RBL2	5934	broad.mit.edu	37	chr16	53514557	53514557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtgctcctcccacacCtactcgcctcacaggtgcca	7	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53514557C>A	ENST00000262133.6	+	20	3097	c.2960C>A	c.(2959-2961)cCt>cAt	p.P987H	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	987	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCTCCCACACCTACTCGCCTC	0.512													False	0	False	16:53514557	0	A	53514557	C	A	53514557	3	1	88	1	0	0	0	0	1	0	0	0	13189	681	24	3	3038	3	RBL2	16	53514557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176451	53514557	36840196	15704	23416											
RBL2	5934	broad.mit.edu	37	chr16	53515625	53515625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatccatttgtaagaacaGgctcccctcgccgaatacag	7	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53515625G>A	ENST00000262133.6	+	21	3264	c.3127G>A	c.(3127-3129)Ggc>Agc	p.G1043S	RBL2_ENST00000544545.1_Splice_Site|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1043					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTAAGAACAGGCTCCCCTCG	0.333													False	0	False	16:53515625	0	A	53515625	G	A	53515625	3	1	88	1	0	0	0	0	1	0	0	0	13189	1000	35	2	3209	2	RBL2	16	53515625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1068	53515625	36839128	15705	23417											
AKTIP	64400	broad.mit.edu	37	chr16	53529183	53529183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcttacttaatgcagAgcgataagatggctgcacat	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53529183A>G	ENST00000394657.7	-	4	478	c.304T>C	c.(304-306)Tct>Cct	p.S102P	AKTIP_ENST00000300245.4_Missense_Mutation_p.S102P|AKTIP_ENST00000570004.1_Missense_Mutation_p.S102P	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein						apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CTTAATGCAGAGCGATAAGAT	0.383													False	0	False	16:53529183	0	G	53529183	A	G	53529183	3	3	88	1	0	0	0	0	1	0	0	0	482	304	11	4	602	4	AKTIP	16	53529183	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13558	53529183	36825570	15706	23418											
AKTIP	64400	broad.mit.edu	37	chr16	53532472	53532472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtggaggactggttttcaCgtcccctgttaatgtcttct	10	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53532472C>T	ENST00000394657.7	-	3	253	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	AKTIP_ENST00000300245.4_Missense_Mutation_p.V27M|AKTIP_ENST00000570004.1_Missense_Mutation_p.V27M	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein						apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CTGGTTTTCACGTCCCCTGTT	0.423													False	0	False	16:53532472	0	T	53532472	C	T	53532472	3	4	88	1	0	0	0	0	1	0	0	0	482	536	19	1	831	1	AKTIP	16	53532472	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3289	53532472	36822281	15707	23419											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53686654	53686654	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattcgggatgaaggcctcGcactacgggagttgtctgta	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53686654G>A	ENST00000262135.4	-	15	2038	c.1945C>T	c.(1945-1947)Cga>Tga	p.R649*	RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000379925.3_Nonsense_Mutation_p.R649*|RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.R649*	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	649	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.R649*(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGAAGGCCTCGCACTACGGGA	0.373													False	0	False	16:53686654	0	A	53686654	G	A	53686654	4	1	88	1	0	0	0	0	0	1	0	0	13629	1095	38	1	2054	1	RPGRIP1L	16	53686654	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154182	53686654	36668099	15708	23420											
FTO	79068	broad.mit.edu	37	chr16	54145726	54145726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgatcagaagccagaatgtCggccatactgggaaaaggat	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54145726C>T	ENST00000471389.1	+	9	1639	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	FTO_ENST00000472835.1_3'UTR|FTO_ENST00000460382.1_Missense_Mutation_p.R74W|FTO_ENST00000394647.3_Missense_Mutation_p.R177W|FTO_ENST00000463855.1_Missense_Mutation_p.R95W|FTO_ENST00000431610.2_Missense_Mutation_p.R74W	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	473					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCCAGAATGTCGGCCATACTG	0.488													False	0	False	16:54145726	0	T	54145726	C	T	54145726	3	4	88	1	0	0	0	0	1	0	0	0	6128	875	31	1	1451	1	FTO	16	54145726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	459072	54145726	36209027	15709	23421											
IRX3	79191	broad.mit.edu	37	chr16	54317630	54317630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagccgataagaccagggCggcgtccagatggttctggg	17	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54317630C>T	ENST00000329734.3	-	4	2186	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	492					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						AAGACCAGGGCGGCGTCCAGA	0.423													False	0	True	16:54317630	0	T	54317630	C	T	54317630	3	4	88	1	0	0	0	0	1	0	0	0	7895	768	27	1	35	1	IRX3	16	54317630	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171904	54317630	36037123	15710	23422											
IRX5	10265	broad.mit.edu	37	chr16	54967479	54967479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcgccggccccggcgccGtcacgctcgccctcggcgca	14	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54967479G>A	ENST00000394636.4	+	3	1483	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	IRX5_ENST00000558597.1_Silent_p.P316P|IRX5_ENST00000560154.1_Silent_p.P162P|IRX5_ENST00000320990.5_Silent_p.P381P			P78411	IRX5_HUMAN	iroquois homeobox 5	382					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCCCGGCGCCGTCACGCTCGC	0.716													False	0	False	16:54967479	0	A	54967479	G	A	54967479	2	1	88	1	0	0	0	0	0	0	0	1	7897	1132	40	1		1	IRX5	16	54967479	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	649849	54967479	35387274	15711	23423											
IRX6	79190	broad.mit.edu	37	chr16	55361564	55361564	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccgggagaccaccagtacActcaaggcctggctcaacga	10	15	2	1	rs148248438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55361564A>G	ENST00000290552.7	+	4	1812	c.480A>G	c.(478-480)acA>acG	p.T160T	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	160						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCACCAGTACACTCAAGGCCT	0.572													False	0	False	16:55361564	0	G	55361564	A	G	55361564	2	3	88	1	0	0	0	0	0	0	0	1	7898	146	6	4		4	IRX6	16	55361564	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	394085	55361564	34993189	15712	23424											
IRX6	79190	broad.mit.edu	37	chr16	55361590	55361590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctggctcaacgagcaccGcaaaaacccctaccccacta	7	18	1	0	rs139251893	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55361590G>A	ENST00000290552.7	+	4	1838	c.506G>A	c.(505-507)cGc>cAc	p.R169H	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	169						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AACGAGCACCGCAAAAACCCC	0.612													False	0	False	16:55361590	0	A	55361590	G	A	55361590	3	1	88	1	0	0	0	0	1	0	0	0	7898	1087	38	1	520	1	IRX6	16	55361590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	55361590	34993163	15713	23425											
MMP2	0	broad.mit.edu	37	chr16	55517011	55517011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactacaacttcttccctcGcaagcccaagtgggacaaga	7	14	1	1	rs112710941		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55517011G>A	ENST00000219070.4	+	2	853	c.344G>A	c.(343-345)cGc>cAc	p.R115H	MMP2_ENST00000543485.1_Missense_Mutation_p.R39H|MMP2_ENST00000570308.1_Missense_Mutation_p.R39H|MMP2_ENST00000437642.2_Missense_Mutation_p.R65H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	115	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TTCTTCCCTCGCAAGCCCAAG	0.602													False	0	False	16:55517011	0	A	55517011	G	A	55517011	3	1	88	1	0	0	0	0	1	0	0	0	9725	1087	38	1	357	1	MMP2	16	55517011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155421	55517011	34837742	15714	23426											
MMP2	0	broad.mit.edu	37	chr16	55523659	55523659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcaccagcgccggccGcagtgacggaaagatgtggt	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55523659G>A	ENST00000219070.4	+	7	1612	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	MMP2_ENST00000543485.1_Missense_Mutation_p.R292H|MMP2_ENST00000570308.1_Missense_Mutation_p.R292H|MMP2_ENST00000437642.2_Missense_Mutation_p.R318H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	368	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGCGCCGGCCGCAGTGACGGA	0.582													False	0	True	16:55523659	0	A	55523659	G	A	55523659	3	1	88	1	0	0	0	0	1	0	0	0	9725	1087	38	1	1136	1	MMP2	16	55523659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6648	55523659	34831094	15715	23427											
CAPNS2	84290	broad.mit.edu	37	chr16	55601237	55601237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctaaatgaacaactttAccaaatgattgtccgccggt	7	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55601237A>G	ENST00000457326.2	+	1	654	c.569A>G	c.(568-570)tAc>tGc	p.Y190C	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	190	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GAACAACTTTACCAAATGATT	0.488													False	0	True	16:55601237	0	G	55601237	A	G	55601237	3	3	88	1	0	0	0	0	1	0	0	0	2654	391	14	4	571	4	CAPNS2	16	55601237	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	77578	55601237	34753516	15716	23428											
SLC6A2	6530	broad.mit.edu	37	chr16	55706056	55706056	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacaccaagtactccaagTacaagttcacgccggcagcc	7	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55706056T>C	ENST00000379906.2	+	3	868	c.613T>C	c.(613-615)Tac>Cac	p.Y205H	SLC6A2_ENST00000566163.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000567238.1_Missense_Mutation_p.Y100H|SLC6A2_ENST00000414754.3_Missense_Mutation_p.Y205H|SLC6A2_ENST00000219833.8_Missense_Mutation_p.Y205H|SLC6A2_ENST00000568943.1_Missense_Mutation_p.Y205H|SLC6A2_ENST00000561820.1_Missense_Mutation_p.Y205H	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	205					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTACTCCAAGTACAAGTTCAC	0.567													False	0	False	16:55706056	0	C	55706056	T	C	55706056	3	2	88	1	0	0	0	0	1	0	0	0	14763	1638	57	4	714	4	SLC6A2	16	55706056	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	104819	55706056	34648697	15717	23429											
CES1	1066	broad.mit.edu	37	chr16	55844569	55844569	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttctggaatcagttccttaGcaatgcactgaaatagatca	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55844569G>T	ENST00000422046.2	-	11	1453	c.1172C>A	c.(1171-1173)gCt>gAt	p.A391D	CES1_ENST00000361503.4_Missense_Mutation_p.A392D|CES1_ENST00000360526.3_Missense_Mutation_p.A393D			P23141	EST1_HUMAN	carboxylesterase 1	392					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CAGTTCCTTAGCAATGCACTG	0.483													False	0	False	16:55844569	0	T	55844569	G	T	55844569	3	4	88	1	0	0	0	0	1	0	0	0	3292	971	34	3	544	3	CES1	16	55844569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138513	55844569	34510184	15718	23430											
GNAO1	2775	broad.mit.edu	37	chr16	56385326	56385326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgagtctctcatgctcttcGactccatctgtaacaacaag	6	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56385326G>A	ENST00000262493.6	+	7	1600	c.754G>A	c.(754-756)Gac>Aac	p.D252N		NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	252					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.D252N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CATGCTCTTCGACTCCATCTG	0.507													False	0	False	16:56385326	0	A	56385326	G	A	56385326	3	1	88	1	0	0	0	0	1	0	0	0	6553	1058	37	1	1130	1	GNAO1	16	56385326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	540757	56385326	33969427	15719	23431											
AMFR	267	broad.mit.edu	37	chr16	56437031	56437031	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagatgttgccaaataaCttagagagaaagagaataaa	8	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56437031C>T	ENST00000290649.5	-	7	1051		c.e7-1			NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase						endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGCCAAATAACTTAGAGAGAA	0.468													False	0	False	16:56437031	0	T	56437031	C	T	56437031	5	4	88	1	0	0	0	0	0	0	1	0	571	579	20	2	1123	2	AMFR	16	56437031	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51705	56437031	33917722	15720	23432											
BBS2	583	broad.mit.edu	37	chr16	56519606	56519606	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatatccatttagcaagtctCtattaaggtcatagagttcc	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56519606C>T	ENST00000245157.5	-	16	2375	c.1955G>A	c.(1954-1956)aGa>aAa	p.R652K	BBS2_ENST00000568104.1_Missense_Mutation_p.R606K	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	652					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TAGCAAGTCTCTATTAAGGTC	0.368									Bardet-Biedl syndrome				False	0	False	16:56519606	0	T	56519606	C	T	56519606	3	4	88	1	0	0	0	0	1	0	0	0	1342	913	32	2	218	2	BBS2	16	56519606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82575	56519606	33835147	15721	23433											
BBS2	583	broad.mit.edu	37	chr16	56548368	56548368	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ataaaggttatacttgcctcTctgtagaacaaatccgaatt	6	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56548368T>A	ENST00000245157.5	-	2	762	c.342A>T	c.(340-342)agA>agT	p.R114S	BBS2_ENST00000568104.1_Missense_Mutation_p.R114S	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	114					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TACTTGCCTCTCTGTAGAACA	0.353									Bardet-Biedl syndrome				False	0	True	16:56548368	0	A	56548368	T	A	56548368	3	1	88	1	0	0	0	0	1	0	0	0	1342	1548	54	5	1887	5	BBS2	16	56548368	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28762	56548368	33806385	15722	23434											
MT1M	4499	broad.mit.edu	37	chr16	56666669	56666669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaactgctcctgcaccaCtggtaagagaagccgaccct	8	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56666669C>T	ENST00000379818.3	+	1	525	c.26C>T	c.(25-27)aCt>aTt	p.T9I		NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	9	Beta.						metal ion binding			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						TCCTGCACCACTGGTAAGAGA	0.592													False	0	False	16:56666669	0	T	56666669	C	T	56666669	3	4	88	1	0	0	0	0	1	0	0	0	9970	565	20	2	28	2	MT1M	16	56666669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118301	56666669	33688084	15723	23435											
MT1M	4499	broad.mit.edu	37	chr16	56667670	56667670	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttccccaggctgctgCtcctgctgccccgtgggctg	11	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56667670C>A	ENST00000379818.3	+	3	601	c.102C>A	c.(100-102)tgC>tgA	p.C34*		NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	34	Alpha.						metal ion binding	p.C34C(2)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						CAGGCTGCTGCTCCTGCTGCC	0.622													False	0	True	16:56667670	0	A	56667670	C	A	56667670	4	1	88	1	0	0	0	0	0	1	0	0	9970	805	28	3	112	3	MT1M	16	56667670	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1001	56667670	33687083	15724	23436											
MT1H	4496	broad.mit.edu	37	chr16	56704811	56704811	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctccctttttccccaggCtgctgctcctgttgccccct	6	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56704811C>A	ENST00000332374.4	+	3	167	c.96C>A	c.(94-96)agC>agA	p.S32R	MT1H_ENST00000569155.1_3'UTR	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	32	Alpha.						metal ion binding|protein binding			lung(5)	5						TTTCCCCAGGCTGCTGCTCCT	0.617													False	0	True	16:56704811	0	A	56704811	C	A	56704811	5	1	88	1	0	0	0	0	0	0	1	0	9969	811	28	3	106	3	MT1H	16	56704811	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37141	56704811	33649942	15725	23437											
NUP93	9688	broad.mit.edu	37	chr16	56867301	56867301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgcttttaaagtcctctgGacagagtgctcagctccgtg	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56867301G>A	ENST00000564887.1	+	11	1780	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	NUP93_ENST00000542526.1_Missense_Mutation_p.G384E|NUP93_ENST00000569842.1_Missense_Mutation_p.G507E|NUP93_ENST00000308159.5_Missense_Mutation_p.G507E	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	507					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AAGTCCTCTGGACAGAGTGCT	0.537													False	0	False	16:56867301	0	A	56867301	G	A	56867301	3	1	88	1	0	0	0	0	1	0	0	0	10840	1174	41	2	1566	2	NUP93	16	56867301	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162490	56867301	33487452	15726	23438											
SLC12A3	0	broad.mit.edu	37	chr16	56906698	56906698	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacatatctggtgacctcaaGgtgagcagaatacttgcccc	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56906698G>T	ENST00000438926.2	+	8	1124	c.1095G>T	c.(1093-1095)aaG>aaT	p.K365N	SLC12A3_ENST00000563236.1_Splice_Site_p.K365N|SLC12A3_ENST00000566786.1_Splice_Site_p.K364N|SLC12A3_ENST00000262502.5_Splice_Site_p.K364N	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	365					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GTGACCTCAAGGTGAGCAGAA	0.597													False	0	False	16:56906698	0	T	56906698	G	T	56906698	5	4	88	1	0	0	0	0	0	0	1	0	14465	1014	35	3	1125	3	SLC12A3	16	56906698	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39397	56906698	33448055	15727	23439											
SLC12A3	0	broad.mit.edu	37	chr16	56926867	56926867	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgcccccacctcctgcagtgGaccccaaggccctggtgaag	11	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56926867G>T	ENST00000438926.2	+	21	2478	c.2449G>T	c.(2449-2451)Gac>Tac	p.D817Y	SLC12A3_ENST00000563236.1_Missense_Mutation_p.D808Y|SLC12A3_ENST00000566786.1_Missense_Mutation_p.D816Y|SLC12A3_ENST00000262502.5_Missense_Mutation_p.D807Y	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	808					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTGCAGTGGACCCCAAGGC	0.642													False	0	False	16:56926867	0	T	56926867	G	T	56926867	3	4	88	1	0	0	0	0	1	0	0	0	14465	1174	41	3	2531	3	SLC12A3	16	56926867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20169	56926867	33427886	15728	23440											
HERPUD1	9709	broad.mit.edu	37	chr16	56977193	56977193	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagaaggccccccagccatCgcaaactgatggtgtttgtg	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56977193C>T	ENST00000439977.2	+	8	1364	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	HERPUD1_ENST00000344114.4_Silent_p.I230I|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Silent_p.I388I|HERPUD1_ENST00000379792.2_Silent_p.I364I	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	389						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CCCCAGCCATCGCAAACTGAT	0.522			T	ERG	prostate								False	0	False	16:56977193	0	T	56977193	C	T	56977193	2	4	88	1	0	0	0	0	0	0	0	1	7110	874	31	1		1	HERPUD1	16	56977193	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50326	56977193	33377560	15729	23441											
NLRC5	84166	broad.mit.edu	37	chr16	57060576	57060576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcatcctgcacctgccGccccttccttagccacctgg	8	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57060576G>A	ENST00000436936.1	+	6	1946	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NLRC5_ENST00000539144.1_Missense_Mutation_p.R574H|NLRC5_ENST00000308149.7_Missense_Mutation_p.R574H|NLRC5_ENST00000262510.6_Missense_Mutation_p.R574H			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	574					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCACCTGCCGCCCCTTCCTT	0.632													False	0	True	16:57060576	0	A	57060576	G	A	57060576	3	1	88	1	0	0	0	0	1	0	0	0	10538	1087	38	1	1735	1	NLRC5	16	57060576	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83383	57060576	33294177	15730	23442											
NLRC5	84166	broad.mit.edu	37	chr16	57068112	57068112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctccaggtccacgatgCggaggccctcatagccctgc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57068112C>T	ENST00000436936.1	+	13	2801	c.2576C>T	c.(2575-2577)gCg>gTg	p.A859V	NLRC5_ENST00000539144.1_Missense_Mutation_p.A859V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A859V|NLRC5_ENST00000262510.6_Missense_Mutation_p.A859V			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	859					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTCCACGATGCGGAGGCCCTC	0.622													False	0	False	16:57068112	0	T	57068112	C	T	57068112	3	4	88	1	0	0	0	0	1	0	0	0	10538	768	27	1	2618	1	NLRC5	16	57068112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7536	57068112	33286641	15731	23443											
NLRC5	84166	broad.mit.edu	37	chr16	57077468	57077468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggatgccgtgttgggttTggttcggtgcttctccactc	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57077468T>C	ENST00000436936.1	+	20	3380	c.3155T>C	c.(3154-3156)tTg>tCg	p.L1052S	NLRC5_ENST00000539144.1_Missense_Mutation_p.L1052S|NLRC5_ENST00000308149.7_Missense_Mutation_p.L1052S|NLRC5_ENST00000262510.6_Missense_Mutation_p.L1052S			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1052					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTGTTGGGTTTGGTTCGGTGC	0.602													False	0	True	16:57077468	0	C	57077468	T	C	57077468	3	2	88	1	0	0	0	0	1	0	0	0	10538	1821	63	4	3225	4	NLRC5	16	57077468	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9356	57077468	33277285	15732	23444											
NLRC5	84166	broad.mit.edu	37	chr16	57091998	57091998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcagcaaacctgctgggCgacagcggactcagatgcct	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57091998C>T	ENST00000436936.1	+	28	3993	c.3768C>T	c.(3766-3768)ggC>ggT	p.G1256G	NLRC5_ENST00000539144.1_Silent_p.G1227G|NLRC5_ENST00000308149.7_Silent_p.G1227G|NLRC5_ENST00000262510.6_Silent_p.G1256G|RP11-322D14.2_ENST00000562970.1_RNA			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1256					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACCTGCTGGGCGACAGCGGAC	0.577													False	0	True	16:57091998	0	T	57091998	C	T	57091998	2	4	88	1	0	0	0	0	0	0	0	1	10538	755	27	1		1	NLRC5	16	57091998	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14530	57091998	33262755	15733	23445											
NLRC5	84166	broad.mit.edu	37	chr16	57111861	57111861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctcttccaggcttggCtgcaatgccctgggggatcc	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57111861C>T	ENST00000262510.6	+	43	5235	c.5010C>T	c.(5008-5010)ggC>ggT	p.G1670G	NLRC5_ENST00000539144.1_Silent_p.G1641G|NLRC5_ENST00000308149.7_Silent_p.G1641G|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1670					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCAGGCTTGGCTGCAATGCCC	0.672													False	0	False	16:57111861	0	T	57111861	C	T	57111861	2	4	88	1	0	0	0	0	0	0	0	1	10538	784	28	2		2	NLRC5	16	57111861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19863	57111861	33242892	15734	23446											
NLRC5	84166	broad.mit.edu	37	chr16	57116360	57116360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccattccctgcgacatgGcccagcacctgaagagccag	9	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57116360G>A	ENST00000262510.6	+	49	5746	c.5521G>A	c.(5521-5523)Gcc>Acc	p.A1841T	NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812T|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1841					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGCGACATGGCCCAGCACCT	0.567													False	0	True	16:57116360	0	A	57116360	G	A	57116360	3	1	88	1	0	0	0	0	1	0	0	0	10538	1203	42	2	5707	2	NLRC5	16	57116360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4499	57116360	33238393	15735	23447											
CPNE2	221184	broad.mit.edu	37	chr16	57149461	57149461	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggggaagggcttgattaCggtaccagtcccctcccggc	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57149461C>T	ENST00000535318.2	+	5	795	c.434C>T	c.(433-435)aCg>aTg	p.T145M	CPNE2_ENST00000537605.1_Splice_Site_p.T43M|CPNE2_ENST00000565874.1_Splice_Site_p.T145M|CPNE2_ENST00000290776.8_Splice_Site_p.T145M			Q96FN4	CPNE2_HUMAN	copine II	145	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GGCTTGATTACGGTACCAGTC	0.607													False	0	False	16:57149461	0	T	57149461	C	T	57149461	5	4	88	1	0	0	0	0	0	0	1	0	3835	550	19	1	444	1	CPNE2	16	57149461	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33101	57149461	33205292	15736	23448											
FAM192A	80011	broad.mit.edu	37	chr16	57188214	57188214	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggagaaactagggggcctcGaggaaggtgttggttcggaa	18	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57188214G>A	ENST00000309137.8	-	7	1011	c.753C>T	c.(751-753)ctC>ctT	p.L251L	FAM192A_ENST00000566077.1_Silent_p.L174L|FAM192A_ENST00000389447.5_Silent_p.L251L|FAM192A_ENST00000569266.1_Silent_p.L251L|FAM192A_ENST00000564108.1_Silent_p.L251L|FAM192A_ENST00000567439.1_Silent_p.L251L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	251						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						AGGGGGCCTCGAGGAAGGTGT	0.547													False	0	False	16:57188214	0	A	57188214	G	A	57188214	2	1	88	1	0	0	0	0	0	0	0	1	5559	1045	37	1		1	FAM192A	16	57188214	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38753	57188214	33166539	15737	23449											
RSPRY1	89970	broad.mit.edu	37	chr16	57272872	57272872	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatctagaatcagacagatTtctcatatttcatgacacat	5	8	4	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57272872T>G	ENST00000537866.1	+	15	2589	c.1716T>G	c.(1714-1716)atT>atG	p.I572M	RSPRY1_ENST00000394420.4_Missense_Mutation_p.I572M|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	572						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TCAGACAGATTTCTCATATTT	0.393													False	0	True	16:57272872	0	G	57272872	T	G	57272872	3	3	88	1	0	0	0	0	1	0	0	0	13792	1829	64	4	1770	4	RSPRY1	16	57272872	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	84658	57272872	33081881	15738	23450											
CX3CL1	6376	broad.mit.edu	37	chr16	57416775	57416775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccacccggaggcaggCggtggggctgctggccttcc	18	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57416775C>T	ENST00000565912.1	+	2	3617	c.911C>T	c.(910-912)gCg>gTg	p.A304V	CX3CL1_ENST00000006053.6_Missense_Mutation_p.A342V|CX3CL1_ENST00000563383.1_Missense_Mutation_p.A348V			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	342	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGGAGGCAGGCGGTGGGGCTG	0.657													False	0	True	16:57416775	0	T	57416775	C	T	57416775	3	4	88	1	0	0	0	0	1	0	0	0	4099	768	27	1	1035	1	CX3CL1	16	57416775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143903	57416775	32937978	15739	23451											
CIAPIN1	57019	broad.mit.edu	37	chr16	57463101	57463101	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctaggcatcatgaagattgCtatcactcagaagcaccttt	7	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57463101C>A	ENST00000394391.4	-	9	1161	c.920G>T	c.(919-921)aGc>aTc	p.S307I	CIAPIN1_ENST00000565961.1_3'UTR|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.S241I|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S294I|CIAPIN1_ENST00000568940.1_3'UTR|CIAPIN1_ENST00000569370.1_3'UTR	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	307					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						ATGAAGATTGCTATCACTCAG	0.582													False	0	False	16:57463101	0	A	57463101	C	A	57463101	3	1	88	1	0	0	0	0	1	0	0	0	3442	797	28	3	22	3	CIAPIN1	16	57463101	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46326	57463101	32891652	15740	23452											
COQ9	57017	broad.mit.edu	37	chr16	57490417	57490417	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgtctccccttttgtagtCtctgggtctctccagtgcag	9	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57490417C>T	ENST00000262507.6	+	4	449	c.380C>T	c.(379-381)tCt>tTt	p.S127F	COQ9_ENST00000567072.1_Splice_Site_p.S127F|COQ9_ENST00000567933.1_Intron	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	127					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CTTTTGTAGTCTCTGGGTCTC	0.512													False	0	False	16:57490417	0	T	57490417	C	T	57490417	5	4	88	1	0	0	0	0	0	0	1	0	3774	927	32	2	394	2	COQ9	16	57490417	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27316	57490417	32864336	15741	23453											
DOK4	0	broad.mit.edu	37	chr16	57507359	57507359	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttagcaggatgaatctgTtgaggaggtctgtttccgag	14	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57507359T>G	ENST00000566936.1	-	7	1325	c.1028A>C	c.(1027-1029)aAc>aCc	p.N343T	DOK4_ENST00000569548.1_Missense_Mutation_p.N304T|DOK4_ENST00000340099.4_Missense_Mutation_p.N304T			Q8TEW6	DOK4_HUMAN	docking protein 4	304							insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GATGAATCTGTTGAGGAGGTC	0.597													False	0	False	16:57507359	0	G	57507359	T	G	57507359	3	3	88	1	0	0	0	0	1	0	0	0	4729	1725	60	4	73	4	DOK4	16	57507359	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16942	57507359	32847394	15742	23454											
DOK4	0	broad.mit.edu	37	chr16	57509522	57509522	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taacacacttgacgttgctgAtctcagtcacctgggacagc	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57509522A>C	ENST00000566936.1	-	3	482	c.185T>G	c.(184-186)aTc>aGc	p.I62S	DOK4_ENST00000569548.1_Missense_Mutation_p.I62S|DOK4_ENST00000340099.4_Missense_Mutation_p.I62S|DOK4_ENST00000561918.1_5'UTR			Q8TEW6	DOK4_HUMAN	docking protein 4	62	PH.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GACGTTGCTGATCTCAGTCAC	0.577													False	0	False	16:57509522	0	C	57509522	A	C	57509522	3	2	88	1	0	0	0	0	1	0	0	0	4729	333	12	4	819	4	DOK4	16	57509522	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2163	57509522	32845231	15743	23455											
CCDC102A	92922	broad.mit.edu	37	chr16	57550216	57550216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctcacctcgtcctcagCctgggccagctccttcttga	9	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57550216C>T	ENST00000258214.2	-	7	1654	c.1408G>A	c.(1408-1410)Gct>Act	p.A470T		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	470										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCGTCCTCAGCCTGGGCCAGC	0.667													False	0	False	16:57550216	0	T	57550216	C	T	57550216	3	4	88	1	0	0	0	0	1	0	0	0	2756	739	26	2	256	2	CCDC102A	16	57550216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40694	57550216	32804537	15744	23456											
GPR56	0	broad.mit.edu	37	chr16	57689823	57689823	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caagtcctgggtgagaaggtCttggggattgtggtacagaa	16	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57689823C>T	ENST00000562631.1	+	7	1468	c.936C>T	c.(934-936)gtC>gtT	p.V312V	GPR56_ENST00000540164.2_Silent_p.V312V|GPR56_ENST00000388813.5_Silent_p.V312V|GPR56_ENST00000388812.4_Silent_p.V312V|GPR56_ENST00000379694.4_Silent_p.V142V|GPR56_ENST00000538815.1_Silent_p.V312V|GPR56_ENST00000544297.1_Silent_p.V137V|GPR56_ENST00000568909.1_Silent_p.V312V|GPR56_ENST00000562558.1_Silent_p.V312V|GPR56_ENST00000567835.1_Silent_p.V312V|GPR56_ENST00000568908.1_Silent_p.V312V|GPR56_ENST00000379696.3_Silent_p.V312V|GPR56_ENST00000456916.1_Silent_p.V312V			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	312					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GTGAGAAGGTCTTGGGGATTG	0.562													False	0	False	16:57689823	0	T	57689823	C	T	57689823	2	4	88	1	0	0	0	0	0	0	0	1	6746	900	32	2		2	GPR56	16	57689823	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139607	57689823	32664930	15745	23457											
GPR56	0	broad.mit.edu	37	chr16	57693425	57693425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgagccggtggccctgAcaggctctgaggctggctgc	16	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57693425A>G	ENST00000562631.1	+	11	1919	c.1387A>G	c.(1387-1389)Aca>Gca	p.T463A	GPR56_ENST00000540164.2_Missense_Mutation_p.T463A|GPR56_ENST00000388813.5_Missense_Mutation_p.T463A|GPR56_ENST00000388812.4_Missense_Mutation_p.T469A|GPR56_ENST00000379694.4_Missense_Mutation_p.T299A|GPR56_ENST00000538815.1_Missense_Mutation_p.T463A|GPR56_ENST00000544297.1_Missense_Mutation_p.T288A|GPR56_ENST00000568909.1_Missense_Mutation_p.T469A|GPR56_ENST00000562558.1_Missense_Mutation_p.T463A|GPR56_ENST00000567835.1_Missense_Mutation_p.T469A|GPR56_ENST00000568908.1_Missense_Mutation_p.T463A|GPR56_ENST00000379696.3_Missense_Mutation_p.T469A|GPR56_ENST00000456916.1_Missense_Mutation_p.T469A			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	469					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GGTGGCCCTGACAGGCTCTGA	0.622													False	0	False	16:57693425	0	G	57693425	A	G	57693425	3	3	88	1	0	0	0	0	1	0	0	0	6746	275	10	4	1458	4	GPR56	16	57693425	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3602	57693425	32661328	15746	23458											
CCDC135	84229	broad.mit.edu	37	chr16	57732027	57732027	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagagacctggagaagaagCtgtcagagatccagatcact	11	9	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57732027C>A	ENST00000360716.3	+	3	387	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	CCDC135_ENST00000394337.4_Missense_Mutation_p.L56M|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Missense_Mutation_p.L56M			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	56						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGAGAAGAAGCTGTCAGAGAT	0.597													False	0	False	16:57732027	0	A	57732027	C	A	57732027	3	1	88	1	0	0	0	0	1	0	0	0	2789	796	28	3	168	3	CCDC135	16	57732027	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38602	57732027	32622726	15747	23459											
CCDC135	84229	broad.mit.edu	37	chr16	57762411	57762411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaactaacatgctggcaggCggtgcgcctcaaggatgagt	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57762411C>T	ENST00000360716.3	+	17	2527	c.2306C>T	c.(2305-2307)gCg>gTg	p.A769V	CCDC135_ENST00000394337.4_Missense_Mutation_p.A769V|CCDC135_ENST00000336825.8_Missense_Mutation_p.A704V			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	769						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGCTGGCAGGCGGTGCGCCTC	0.622													False	0	False	16:57762411	0	T	57762411	C	T	57762411	3	4	88	1	0	0	0	0	1	0	0	0	2789	768	27	1	2364	1	CCDC135	16	57762411	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30384	57762411	32592342	15748	23460											
KATNB1	10300	broad.mit.edu	37	chr16	57789369	57789369	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccgccacaagaacctggAcactgtgcgggctgtgtgga	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57789369A>G	ENST00000379661.3	+	16	1921	c.1529A>G	c.(1528-1530)gAc>gGc	p.D510G		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	510	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AAGAACCTGGACACTGTGCGG	0.657													False	0	False	16:57789369	0	G	57789369	A	G	57789369	3	3	88	1	0	0	0	0	1	0	0	0	8037	275	10	4	1587	4	KATNB1	16	57789369	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26958	57789369	32565384	15749	23461											
KIFC3	3801	broad.mit.edu	37	chr16	57792813	57792813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcacacaggcagtggccGcgacttccctgcaggggcat	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57792813G>A	ENST00000379655.4	-	19	2742	c.2485C>T	c.(2485-2487)Cgg>Tgg	p.R829W	KIFC3_ENST00000540079.2_3'UTR|KIFC3_ENST00000465878.2_3'UTR|KIFC3_ENST00000421376.2_3'UTR|KIFC3_ENST00000541240.1_3'UTR|KIFC3_ENST00000562903.1_3'UTR|KIFC3_ENST00000543930.1_3'UTR|KIFC3_ENST00000539578.1_3'UTR|KIFC3_ENST00000445690.2_3'UTR	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	829					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GGCAGTGGCCGCGACTTCCCT	0.662													False	0	False	16:57792813	0	A	57792813	G	A	57792813	3	1	88	1	0	0	0	0	1	0	0	0	8364	1086	38	1	20	1	KIFC3	16	57792813	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3444	57792813	32561940	15750	23462											
KIFC3	3801	broad.mit.edu	37	chr16	57794323	57794323	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctagtgttcttctccacgggGgacacctaggggacacgaga	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57794323G>T	ENST00000379655.4	-	17	2495	c.2238C>A	c.(2236-2238)tcC>tcA	p.S746S	KIFC3_ENST00000540079.2_Silent_p.S644S|KIFC3_ENST00000465878.2_Silent_p.S607S|KIFC3_ENST00000421376.2_Silent_p.S607S|KIFC3_ENST00000541240.1_Silent_p.S768S|KIFC3_ENST00000562903.1_Silent_p.S607S|KIFC3_ENST00000543930.1_Silent_p.S604S|KIFC3_ENST00000539578.1_Silent_p.S688S|KIFC3_ENST00000445690.2_Silent_p.S746S	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	746					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCTCCACGGGGGACACCTAGG	0.642													False	0	True	16:57794323	0	T	57794323	G	T	57794323	2	4	88	1	0	0	0	0	0	0	0	1	8364	1219	43	3		3	KIFC3	16	57794323	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1510	57794323	32560430	15751	23463											
KIFC3	3801	broad.mit.edu	37	chr16	57798095	57798095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcccgtctggccgtacGcaaagatgcagacattgaag	13	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57798095G>A	ENST00000379655.4	-	12	1834	c.1577C>T	c.(1576-1578)gCg>gTg	p.A526V	KIFC3_ENST00000540079.2_Missense_Mutation_p.A424V|KIFC3_ENST00000465878.2_Missense_Mutation_p.A387V|KIFC3_ENST00000421376.2_Missense_Mutation_p.A387V|KIFC3_ENST00000541240.1_Missense_Mutation_p.A548V|KIFC3_ENST00000562903.1_Missense_Mutation_p.A387V|KIFC3_ENST00000543930.1_Missense_Mutation_p.A384V|KIFC3_ENST00000539578.1_Missense_Mutation_p.A468V|KIFC3_ENST00000445690.2_Missense_Mutation_p.A526V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	526	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTGGCCGTACGCAAAGATGCA	0.637													False	0	False	16:57798095	0	A	57798095	G	A	57798095	3	1	88	1	0	0	0	0	1	0	0	0	8364	1087	38	1	965	1	KIFC3	16	57798095	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3772	57798095	32556658	15752	23464											
KIFC3	3801	broad.mit.edu	37	chr16	57803523	57803523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcggccttgacactcCtgagggcctcctgcagcagc	10	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57803523C>A	ENST00000379655.4	-	9	1459	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	KIFC3_ENST00000540079.2_Missense_Mutation_p.R299M|KIFC3_ENST00000465878.2_Missense_Mutation_p.R262M|KIFC3_ENST00000421376.2_Missense_Mutation_p.R262M|KIFC3_ENST00000541240.1_Missense_Mutation_p.R423M|KIFC3_ENST00000562903.1_Missense_Mutation_p.R262M|KIFC3_ENST00000543930.1_Missense_Mutation_p.R262M|KIFC3_ENST00000539578.1_Missense_Mutation_p.R343M|KIFC3_ENST00000445690.2_Missense_Mutation_p.R401M	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	401					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTTGACACTCCTGAGGGCCTC	0.657													False	0	False	16:57803523	0	A	57803523	C	A	57803523	3	1	88	1	0	0	0	0	1	0	0	0	8364	681	24	3	1352	3	KIFC3	16	57803523	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5428	57803523	32551230	15753	23465											
CNGB1	1258	broad.mit.edu	37	chr16	57918346	57918346	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gccttcctctcccttgacgtCttgcgagctcttggcctgga	10	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57918346C>A	ENST00000564448.1	-	33	3520	c.3460G>T	c.(3460-3462)Gac>Tac	p.D1154Y	CNGB1_ENST00000251102.8_Missense_Mutation_p.D1160Y			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1160					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCCTTGACGTCTTGCGAGCTC	0.672													False	0	False	16:57918346	0	A	57918346	C	A	57918346	3	1	88	1	0	0	0	0	1	0	0	0	3623	913	32	3	281	3	CNGB1	16	57918346	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114823	57918346	32436407	15754	23466											
CNGB1	1258	broad.mit.edu	37	chr16	57957180	57957180	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccagaggggtctcactcaGtgtccttcggggtggtgggg	17	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57957180G>T	ENST00000564448.1	-	18	1682	c.1622C>A	c.(1621-1623)aCt>aAt	p.T541N	CNGB1_ENST00000251102.8_Missense_Mutation_p.T547N			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	547					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTCTCACTCAGTGTCCTTCGG	0.582													False	0	True	16:57957180	0	T	57957180	G	T	57957180	3	4	88	1	0	0	0	0	1	0	0	0	3623	1029	36	3	2179	3	CNGB1	16	57957180	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38834	57957180	32397573	15755	23467											
CNGB1	1258	broad.mit.edu	37	chr16	57973480	57973480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttggcctcctccccaActtcctcccacagcttctgc	4	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57973480A>C	ENST00000564448.1	-	16	1268	c.1208T>G	c.(1207-1209)gTt>gGt	p.V403G	CNGB1_ENST00000251102.8_Missense_Mutation_p.V409G|CNGB1_ENST00000564654.1_5'UTR			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	409					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ctcctccccaacttcctccCA	0.572													False	0	False	16:57973480	0	C	57973480	A	C	57973480	3	2	88	1	0	0	0	0	1	0	0	0	3623	43	2	4	2601	4	CNGB1	16	57973480	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16300	57973480	32381273	15756	23468											
CNGB1	1258	broad.mit.edu	37	chr16	57998403	57998403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactcaccctgagggcttgGgtctgccacagccacttcct	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57998403G>A	ENST00000564448.1	-	3	265	c.205C>T	c.(205-207)Cca>Tca	p.P69S	CNGB1_ENST00000311183.4_Missense_Mutation_p.P69S|CNGB1_ENST00000251102.8_Missense_Mutation_p.P69S			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	69					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGAGGGCTTGGGTCTGCCACA	0.632													False	0	True	16:57998403	0	A	57998403	G	A	57998403	3	1	88	1	0	0	0	0	1	0	0	0	3623	1232	43	2	3704	2	CNGB1	16	57998403	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24923	57998403	32356350	15757	23469											
ZNF319	0	broad.mit.edu	37	chr16	58031620	58031620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggaaggcgcgggtgctgcggGaagcgacggggcggctgtgg	24	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58031620G>T	ENST00000299237.2	-	2	1172	c.550C>A	c.(550-552)Ccc>Acc	p.P184T		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GGTGCTGCGGGAAGCGACGGG	0.632													False	0	True	16:58031620	0	T	58031620	G	T	58031620	3	4	88	1	0	0	0	0	1	0	0	0	17920	1174	41	3	1202	3	ZNF319	16	58031620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33217	58031620	32323133	15758	23470											
MMP15	4324	broad.mit.edu	37	chr16	58079010	58079010	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccatcctgcgggacttcaTgggctgccaggagcacgtgg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58079010T>C	ENST00000219271.3	+	10	2455	c.1670T>C	c.(1669-1671)aTg>aCg	p.M557T		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	557	Hemopexin-like 4.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGGACTTCATGGGCTGCCAG	0.667													False	0	True	16:58079010	0	C	58079010	T	C	58079010	3	2	88	1	0	0	0	0	1	0	0	0	9721	1464	51	4	1708	4	MMP15	16	58079010	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47390	58079010	32275743	15759	23471											
MMP15	4324	broad.mit.edu	37	chr16	58079274	58079274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcctgggcctcacctacgCgctggtgcagatgcagcgca	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58079274C>T	ENST00000219271.3	+	10	2719	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	645					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CTCACCTACGCGCTGGTGCAG	0.652													False	0	False	16:58079274	0	T	58079274	C	T	58079274	3	4	88	1	0	0	0	0	1	0	0	0	9721	768	27	1	1972	1	MMP15	16	58079274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	264	58079274	32275479	15760	23472											
CCDC113	29070	broad.mit.edu	37	chr16	58292383	58292383	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaagggagtattttggccActcagaaagtgatgaaatac	11	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58292383A>C	ENST00000219299.4	+	4	581	c.502A>C	c.(502-504)Act>Cct	p.T168P	CCDC113_ENST00000443128.2_Missense_Mutation_p.T114P	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	168						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TATTTTGGCCACTCAGAAAGT	0.413													False	0	False	16:58292383	0	C	58292383	A	C	58292383	3	2	88	1	0	0	0	0	1	0	0	0	2770	159	6	4	516	4	CCDC113	16	58292383	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	213109	58292383	32062370	15761	23473											
PRSS54	221191	broad.mit.edu	37	chr16	58318538	58318538	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcgtgtggctgccgcattCtgtcttctggagtttgtata	11	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58318538C>T	ENST00000219301.4	-	6	1004	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	PRSS54_ENST00000563336.1_5'UTR|PRSS54_ENST00000567164.1_Missense_Mutation_p.E204K|PRSS54_ENST00000543437.1_Missense_Mutation_p.E105K	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	204	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGCCGCATTCTGTCTTCTGG	0.463													False	0	False	16:58318538	0	T	58318538	C	T	58318538	3	4	88	1	0	0	0	0	1	0	0	0	12709	922	32	2	585	2	PRSS54	16	58318538	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26155	58318538	32036215	15762	23474											
PRSS54	221191	broad.mit.edu	37	chr16	58319950	58319950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggttgccaaaatgcatcGctgtgtctgtcttcaggagg	12	10	3	0	rs149972398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58319950G>A	ENST00000219301.4	-	5	807	c.413C>T	c.(412-414)gCg>gTg	p.A138V	PRSS54_ENST00000567164.1_Missense_Mutation_p.A138V|PRSS54_ENST00000543437.1_Missense_Mutation_p.A39V	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	138	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAATGCATCGCTGTGTCTGT	0.493													False	0	False	16:58319950	0	A	58319950	G	A	58319950	3	1	88	1	0	0	0	0	1	0	0	0	12709	1087	38	1	786	1	PRSS54	16	58319950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1412	58319950	32034803	15763	23475											
GINS3	64785	broad.mit.edu	37	chr16	58438412	58438412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttcccagacttttatcGgacgttttcgccgcatcatg	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58438412G>A	ENST00000318129.5	+	3	638	c.430G>A	c.(430-432)Gga>Aga	p.G144R	GINS3_ENST00000328514.7_Missense_Mutation_p.G66R|GINS3_ENST00000426538.2_Missense_Mutation_p.G183R	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	144					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						GACTTTTATCGGACGTTTTCG	0.463													False	0	False	16:58438412	0	A	58438412	G	A	58438412	3	1	88	1	0	0	0	0	1	0	0	0	6434	1117	39	1	561	1	GINS3	16	58438412	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118462	58438412	31916341	15764	23476											
NDRG4	65009	broad.mit.edu	37	chr16	58537860	58537860	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctcccatcagccagagCggtgaggccccccaccctcc	9	21	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58537860C>T	ENST00000563799.1	+	2	286	c.180C>T	c.(178-180)agC>agT	p.S60S	NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000258187.5_Intron|NDRG4_ENST00000394279.2_Intron|NDRG4_ENST00000568640.1_Intron|NDRG4_ENST00000394282.4_Intron|NDRG4_ENST00000569923.1_Intron|NDRG4_ENST00000566192.1_Intron|NDRG4_ENST00000562999.1_Intron|NDRG4_ENST00000570248.1_Intron|NDRG4_ENST00000356752.4_Intron			Q9ULP0	NDRG4_HUMAN	NDRG family member 4	44					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TCAGCCAGAGCGGTGAGGCCC	0.667													False	0	False	16:58537860	0	T	58537860	C	T	58537860	5	4	88	1	0	0	0	0	0	0	1	0	10322	783	27	1		1	NDRG4	16	58537860	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99448	58537860	31816893	15765	23477											
NDRG4	65009	broad.mit.edu	37	chr16	58538164	58538164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaacaggtgggggcgtcGcagtttcctcaggggtaggt	18	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58538164G>A	ENST00000394282.4	+	5	797	c.390G>A	c.(388-390)tcG>tcA	p.S130S	NDRG4_ENST00000258187.5_Silent_p.S110S|NDRG4_ENST00000394279.2_Silent_p.S110S|NDRG4_ENST00000568640.1_Silent_p.S96S|NDRG4_ENST00000563799.1_Silent_p.S96S|NDRG4_ENST00000569923.1_Silent_p.S23S|NDRG4_ENST00000566192.1_Silent_p.S78S|NDRG4_ENST00000562999.1_Silent_p.S78S|NDRG4_ENST00000570248.1_Silent_p.S78S|NDRG4_ENST00000356752.4_Silent_p.S108S	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	78					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TGGGGGCGTCGCAGTTTCCTC	0.597													False	0	False	16:58538164	0	A	58538164	G	A	58538164	2	1	88	1	0	0	0	0	0	0	0	1	10322	1074	38	1		1	NDRG4	16	58538164	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	304	58538164	31816589	15766	23478											
NDRG4	65009	broad.mit.edu	37	chr16	58545414	58545414	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggcagccgcccacaggcCtgcacccactcagagagcag	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58545414C>A	ENST00000394282.4	+	16	1517	c.1110C>A	c.(1108-1110)gcC>gcA	p.A370A	NDRG4_ENST00000258187.5_Silent_p.A350A|NDRG4_ENST00000394279.2_Silent_p.A350A|NDRG4_ENST00000568640.1_Silent_p.A336A|NDRG4_ENST00000563799.1_Silent_p.A336A|NDRG4_ENST00000569923.1_Silent_p.A263A|NDRG4_ENST00000566192.1_Silent_p.A318A|NDRG4_ENST00000562999.1_Silent_p.A306A|NDRG4_ENST00000570248.1_Silent_p.A331A|NDRG4_ENST00000356752.4_Silent_p.A348A	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	331					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GCCCACAGGCCTGCACCCACT	0.667													False	0	False	16:58545414	0	A	58545414	C	A	58545414	2	1	88	1	0	0	0	0	0	0	0	1	10322	668	24	3		3	NDRG4	16	58545414	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7250	58545414	31809339	15767	23479											
SETD6	79918	broad.mit.edu	37	chr16	58550529	58550529	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcagcctcagggttcgCtccctagaactctaccacca	6	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58550529C>A	ENST00000394266.4	+	5	473	c.417C>A	c.(415-417)cgC>cgA	p.R139R	SETD6_ENST00000310682.2_Silent_p.R184R|SETD6_ENST00000219315.4_Silent_p.R208R|SETD6_ENST00000418480.1_3'UTR			Q8TBK2	SETD6_HUMAN	SET domain containing 6	208	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						TCAGGGTTCGCTCCCTAGAAC	0.567													False	0	False	16:58550529	0	A	58550529	C	A	58550529	2	1	88	1	0	0	0	0	0	0	0	1	14216	784	28	3		3	SETD6	16	58550529	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5115	58550529	31804224	15768	23480											
CNOT1	23019	broad.mit.edu	37	chr16	58581543	58581543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagttcttcagcaaagaaCgatctgagaaattggctgca	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58581543C>T	ENST00000317147.5	-	26	3898	c.3566G>A	c.(3565-3567)cGt>cAt	p.R1189H	CNOT1_ENST00000441024.2_Missense_Mutation_p.R1189H|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1184H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1189					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGCAAAGAACGATCTGAGAA	0.358													False	0	False	16:58581543	0	T	58581543	C	T	58581543	3	4	88	1	0	0	0	0	1	0	0	0	3640	536	19	1	3882	1	CNOT1	16	58581543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31014	58581543	31773210	15769	23481											
CNOT1	23019	broad.mit.edu	37	chr16	58621318	58621318	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggggtgcaggctttaaactCtgaaacaaaccaaattttag	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58621318C>T	ENST00000317147.5	-	5	642		c.e5-1		CNOT1_ENST00000441024.2_Splice_Site|CNOT1_ENST00000569240.1_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCTTTAAACTCTGAAACAAAC	0.358													False	0	False	16:58621318	0	T	58621318	C	T	58621318	5	4	88	1	0	0	0	0	0	0	1	0	3640	927	32	2	7223	2	CNOT1	16	58621318	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39775	58621318	31733435	15770	23482											
SLC38A7	55238	broad.mit.edu	37	chr16	58711301	58711301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgataacgatggctgtgacGtaccaggtacccacgacgct	11	11	0	2	rs111704627	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58711301G>A	ENST00000570101.1	-	5	1522	c.639C>T	c.(637-639)taC>taT	p.Y213Y	SLC38A7_ENST00000564100.1_Silent_p.Y213Y|SLC38A7_ENST00000564010.1_Silent_p.Y124Y|SLC38A7_ENST00000219320.4_Silent_p.Y213Y|SLC38A7_ENST00000566953.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	213					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGGCTGTGACGTACCAGGTAC	0.557													False	0	False	16:58711301	0	A	58711301	G	A	58711301	2	1	88	1	0	0	0	0	0	0	0	1	14689	1140	40	1		1	SLC38A7	16	58711301	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89983	58711301	31643452	15771	23483											
SLC38A7	55238	broad.mit.edu	37	chr16	58713944	58713944	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggggctgtgtccacacaGggactctgcagcagccgagc	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58713944G>A	ENST00000570101.1	-	2	970	c.87C>T	c.(85-87)ccC>ccT	p.P29P	SLC38A7_ENST00000564100.1_Silent_p.P29P|SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000564391.1_Silent_p.P29P|SLC38A7_ENST00000219320.4_Silent_p.P29P|SLC38A7_ENST00000566953.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	29					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGTCCACACAGGGACTCTGCA	0.627													False	0	True	16:58713944	0	A	58713944	G	A	58713944	2	1	88	1	0	0	0	0	0	0	0	1	14689	987	35	2		2	SLC38A7	16	58713944	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2643	58713944	31640809	15772	23484											
CDH8	1006	broad.mit.edu	37	chr16	61687978	61687978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggttcatttttatgccgcCgtagagttacaaacagcacc	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61687978C>T	ENST00000577390.1	-	12	2888	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q	CDH8_ENST00000299345.6_Missense_Mutation_p.R645Q|CDH8_ENST00000577730.1_Missense_Mutation_p.R645Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	645					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTATGCCGCCGTAGAGTTAC	0.383													False	0	False	16:61687978	0	T	61687978	C	T	61687978	3	4	88	1	0	0	0	0	1	0	0	0	3139	652	23	1	469	1	CDH8	16	61687978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2974034	61687978	28666775	15773	23485											
CDH8	1006	broad.mit.edu	37	chr16	61761071	61761071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggggcgttgtcattgacaTccagcactttaatagcaaca	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61761071T>C	ENST00000577390.1	-	9	2417	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	CDH8_ENST00000299345.6_Missense_Mutation_p.D488G|CDH8_ENST00000577730.1_Missense_Mutation_p.D488G|CDH8_ENST00000584337.1_Missense_Mutation_p.D488G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	488	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCATTGACATCCAGCACTTT	0.403													False	0	False	16:61761071	0	C	61761071	T	C	61761071	3	2	88	1	0	0	0	0	1	0	0	0	3139	1435	50	4	952	4	CDH8	16	61761071	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	73093	61761071	28593682	15774	23486											
CDH8	1006	broad.mit.edu	37	chr16	61891126	61891126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgtcggtcgcagtgacGttagtgacagatgtacctaa	12	9	1	3	rs113885361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61891126G>A	ENST00000577390.1	-	4	1518	c.564C>T	c.(562-564)aaC>aaT	p.N188N	CDH8_ENST00000299345.6_Silent_p.N188N|CDH8_ENST00000577730.1_Silent_p.N188N|CDH8_ENST00000584337.1_Silent_p.N188N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	188	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCGCAGTGACGTTAGTGACAG	0.363													False	0	False	16:61891126	0	A	61891126	G	A	61891126	2	1	88	1	0	0	0	0	0	0	0	1	3139	1136	40	1		1	CDH8	16	61891126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130055	61891126	28463627	15775	23487											
CDH11	1009	broad.mit.edu	37	chr16	64981786	64981786	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggccggagcccaggtctaGgcatgtactgatactcaggt	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:64981786G>T	ENST00000268603.4	-	13	2726	c.2111C>A	c.(2110-2112)cCt>cAt	p.P704H	CDH11_ENST00000566827.1_Missense_Mutation_p.P578H|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	704					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCAGGTCTAGGCATGTACTG	0.512			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			False	0	False	16:64981786	0	T	64981786	G	T	64981786	3	4	88	1	0	0	0	0	1	0	0	0	3120	1000	35	3	283	3	CDH11	16	64981786	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3090660	64981786	25372967	15776	23488											
CDH11	1009	broad.mit.edu	37	chr16	65005935	65005935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatcaaggaccctaatggCcactgggactttggcttcct	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:65005935C>T	ENST00000394156.3	-	10	1876	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	CDH11_ENST00000566827.1_Missense_Mutation_p.A349T|CDH11_ENST00000268603.4_Missense_Mutation_p.A475T			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	475	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACCCTAATGGCCACTGGGACT	0.473			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			False	0	False	16:65005935	0	T	65005935	C	T	65005935	3	4	88	1	0	0	0	0	1	0	0	0	3120	739	26	2	983	2	CDH11	16	65005935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24149	65005935	25348818	15777	23489											
CDH11	1009	broad.mit.edu	37	chr16	65038694	65038694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgcaggtgcccccgccGctctggggcaaaggcatggc	17	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:65038694G>A	ENST00000394156.3	-	3	532	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000268603.4_Missense_Mutation_p.R27W|CDH11_ENST00000569624.1_5'UTR			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	27					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGCCCCCGCCGCTCTGGGGCA	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			False	0	False	16:65038694	0	A	65038694	G	A	65038694	3	1	88	1	0	0	0	0	1	0	0	0	3120	1086	38	1	2355	1	CDH11	16	65038694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32759	65038694	25316059	15778	23490											
CDH5	1003	broad.mit.edu	37	chr16	66420804	66420804	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgatgcagagacaggagaCgtgttcgccattgagaggct	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66420804C>T	ENST00000341529.3	+	3	451	c.303C>T	c.(301-303)gaC>gaT	p.D101D	CDH5_ENST00000563425.2_Silent_p.D101D	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	101	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGACAGGAGACGTGTTCGCCA	0.512													False	0	False	16:66420804	0	T	66420804	C	T	66420804	2	4	88	1	0	0	0	0	0	0	0	1	3136	535	19	1		1	CDH5	16	66420804	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1382110	66420804	23933949	15779	23491											
CDH5	1003	broad.mit.edu	37	chr16	66429998	66429998	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accagtgacaagggccagttCttccgagtcacaaaaaaggg	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66429998C>A	ENST00000341529.3	+	8	1402	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	418	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGGGCCAGTTCTTCCGAGTCA	0.488													False	0	False	16:66429998	0	A	66429998	C	A	66429998	3	1	88	1	0	0	0	0	1	0	0	0	3136	912	32	3	1280	3	CDH5	16	66429998	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9194	66429998	23924755	15780	23492											
CDH5	1003	broad.mit.edu	37	chr16	66431887	66431887	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttctcccctgcaggaAcccccacaggaaaagaatcc	7	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66431887A>G	ENST00000341529.3	+	9	1511	c.1363A>G	c.(1363-1365)Acc>Gcc	p.T455A	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	455	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCCTGCAGGAACCCCCACAGG	0.542													False	0	True	16:66431887	0	G	66431887	A	G	66431887	3	3	88	1	0	0	0	0	1	0	0	0	3136	43	2	4	1393	4	CDH5	16	66431887	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1889	66431887	23922866	15781	23493											
CDH5	1003	broad.mit.edu	37	chr16	66436913	66436913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacacgctgcacatctacggCtacgagggctccgagtccat	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66436913C>T	ENST00000341529.3	+	12	2344	c.2196C>T	c.(2194-2196)ggC>ggT	p.G732G	CDH5_ENST00000539168.1_Silent_p.G171G	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	732					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ACATCTACGGCTACGAGGGCT	0.642													False	0	False	16:66436913	0	T	66436913	C	T	66436913	2	4	88	1	0	0	0	0	0	0	0	1	3136	784	28	2		2	CDH5	16	66436913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5026	66436913	23917840	15782	23494											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66785491	66785491	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctccacccccaccggcgCcatcttgccaactgcagcca	6	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66785491C>A	ENST00000258198.2	-	1	210	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.A2S|DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.A2S	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	2					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CCCACCGGCGCCATCTTGCCA	0.756													False	0	False	16:66785491	0	A	66785491	C	A	66785491	3	1	88	1	0	0	0	0	1	0	0	0	4875	739	26	3	1526	3	DYNC1LI2	16	66785491	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	348578	66785491	23569262	15783	23495											
RRAD	6236	broad.mit.edu	37	chr16	66956090	66956090	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcgcctttttgccaaggctCtctcgcctccgggtgcctgc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66956090C>A	ENST00000299759.6	-	5	1066	c.816G>T	c.(814-816)gaG>gaT	p.E272D	RRAD_ENST00000420652.1_Missense_Mutation_p.E272D			P55042	RAD_HUMAN	Ras-related associated with diabetes	272					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TGCCAAGGCTCTCTCGCCTCC	0.607													False	0	True	16:66956090	0	A	66956090	C	A	66956090	3	1	88	1	0	0	0	0	1	0	0	0	13750	912	32	3	114	3	RRAD	16	66956090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170599	66956090	23398663	15784	23496											
CES3	23491	broad.mit.edu	37	chr16	67006262	67006262	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccatcctttctctgtagattCtggaagccctgtctttttct	6	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67006262C>T	ENST00000303334.4	+	11	1366	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	CES3_ENST00000543856.1_Missense_Mutation_p.S71F|CES3_ENST00000394037.1_Missense_Mutation_p.S432F	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	432						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TCTGTAGATTCTGGAAGCCCT	0.498													False	0	False	16:67006262	0	T	67006262	C	T	67006262	3	4	88	1	0	0	0	0	1	0	0	0	3294	913	32	2	1337	2	CES3	16	67006262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50172	67006262	23348491	15785	23497											
CES3	23491	broad.mit.edu	37	chr16	67006910	67006910	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcaagatacaacagtgGcaccagaagcagaagaacag	10	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67006910G>A	ENST00000303334.4	+	13	1745	c.1674G>A	c.(1672-1674)tgG>tgA	p.W558*	CES3_ENST00000543856.1_Nonsense_Mutation_p.W197*|CES3_ENST00000394037.1_Nonsense_Mutation_p.W555*	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	558						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TACAACAGTGGCACCAGAAGC	0.577													False	0	False	16:67006910	0	A	67006910	G	A	67006910	4	1	88	1	0	0	0	0	0	1	0	0	3294	1212	42	2	1724	2	CES3	16	67006910	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	648	67006910	23347843	15786	23498											
C16orf70	80262	broad.mit.edu	37	chr16	67154021	67154021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctttatttcaggaatgcCtctggctcaggcagtagcca	10	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67154021C>T	ENST00000219139.3	+	2	259	c.71C>T	c.(70-72)cCt>cTt	p.P24L	C16orf70_ENST00000569600.1_Missense_Mutation_p.P24L|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	24										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TCAGGAATGCCTCTGGCTCAG	0.458													False	0	False	16:67154021	0	T	67154021	C	T	67154021	3	4	88	1	0	0	0	0	1	0	0	0	1839	681	24	2	77	2	C16orf70	16	67154021	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147111	67154021	23200732	15787	23499											
C16orf70	80262	broad.mit.edu	37	chr16	67168323	67168323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagagtgtagatgttcttcGagatggaactggacctgcag	14	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67168323G>A	ENST00000219139.3	+	8	802	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	C16orf70_ENST00000569600.1_Missense_Mutation_p.R205Q|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	205										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GATGTTCTTCGAGATGGAACT	0.512													False	0	False	16:67168323	0	A	67168323	G	A	67168323	3	1	88	1	0	0	0	0	1	0	0	0	1839	1058	37	1	644	1	C16orf70	16	67168323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14302	67168323	23186430	15788	23500											
B3GNT9	84752	broad.mit.edu	37	chr16	67183522	67183522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggaaagcacaaagccaccGccgcccgcgtaggccggata	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67183522G>A	ENST00000449549.3	-	2	1402	c.867C>T	c.(865-867)ggC>ggT	p.G289G		NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	289					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						CAAAGCCACCGCCGCCCGCGT	0.672													False	0	True	16:67183522	0	A	67183522	G	A	67183522	2	1	88	1	0	0	0	0	0	0	0	1	1268	1074	38	1		1	B3GNT9	16	67183522	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15199	67183522	23171231	15789	23501											
TRADD	8717	broad.mit.edu	37	chr16	67190432	67190432	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaaggcagcctgcagAgccctgtacactgccacctt	9	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67190432A>G	ENST00000345057.4	-	2	600	c.132T>C	c.(130-132)gcT>gcC	p.A44A	TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	44					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCCTGCAGAGCCCTGTACA	0.627											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	16:67190432	0	G	67190432	A	G	67190432	2	3	88	1	0	0	0	0	0	0	0	1	16519	291	11	4		4	TRADD	16	67190432	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6910	67190432	23164321	15790	23502											
HSF4	3299	broad.mit.edu	37	chr16	67199722	67199722	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcgtgcgcggccgcgaGcagctactggagcgcgtgcg	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67199722G>A	ENST00000264009.8	+	5	1298	c.333G>A	c.(331-333)gaG>gaA	p.E111E	HSF4_ENST00000521374.1_Silent_p.E111E|HSF4_ENST00000421453.1_Silent_p.E111E|HSF4_ENST00000584272.1_Silent_p.E111E	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	111					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCGGCCGCGAGCAGCTACTGG	0.687													False	0	False	16:67199722	0	A	67199722	G	A	67199722	2	1	88	1	0	0	0	0	0	0	0	1	7445	962	34	2		2	HSF4	16	67199722	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9290	67199722	23155031	15791	23503											
KIAA0895L	653319	broad.mit.edu	37	chr16	67214084	67214084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtccatgttggttggccGcagggccaccaacatgcagg	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67214084G>A	ENST00000290881.7	-	3	1356	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R144W|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R144W			Q68EN5	K895L_HUMAN	KIAA0895-like	144										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TTGGTTGGCCGCAGGGCCACC	0.587													False	0	False	16:67214084	0	A	67214084	G	A	67214084	3	1	88	1	0	0	0	0	1	0	0	0	8248	1086	38	1	1009	1	KIAA0895L	16	67214084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14362	67214084	23140669	15792	23504											
KIAA0895L	653319	broad.mit.edu	37	chr16	67214520	67214520	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtccagcaccattctgtcCtgggggtcacatccagccgg	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67214520C>A	ENST00000290881.7	-	0	920				KIAA0895L_ENST00000561621.1_De_novo_Start_OutOfFrame|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_De_novo_Start_OutOfFrame			Q68EN5	K895L_HUMAN	KIAA0895-like											breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CCATTCTGTCCTGGGGGTCAC	0.627													False	0	False	16:67214520	0	A	67214520	C	A	67214520	1	1	88	1	0	0	0	0	0	0	0	0	8248	696	24	3		3	KIAA0895L	16	67214520	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	436	67214520	23140233	15793	23505											
E2F4	1874	broad.mit.edu	37	chr16	67228615	67228615	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatgggcagaagaagtaccaGattcacctgaagagtgtgag	13	6	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67228615G>T	ENST00000379378.3	+	6	599	c.540G>T	c.(538-540)caG>caT	p.Q180H	E2F4_ENST00000564718.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	180	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		AGAAGTACCAGATTCACCTGA	0.562													False	0	False	16:67228615	0	T	67228615	G	T	67228615	3	4	88	1	0	0	0	0	1	0	0	0	4899	933	33	3	562	3	E2F4	16	67228615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14095	67228615	23126138	15794	23506											
E2F4	1874	broad.mit.edu	37	chr16	67229753	67229753	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactcccactgggcccaacaAcactggacacccggccactg	8	19	0	0	rs1801013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67229753A>T	ENST00000379378.3	+	7	936	c.877A>T	c.(877-879)Aca>Tca	p.T293S		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	293			T -> P (in dbSNP:rs1801013).		G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGGCCCAACAACACTGGACAC	0.587													False	0	False	16:67229753	0	T	67229753	A	T	67229753	3	4	88	1	0	0	0	0	1	0	0	0	4899	43	2	5	903	5	E2F4	16	67229753	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1138	67229753	23125000	15795	23507											
E2F4	1874	broad.mit.edu	37	chr16	67229844	67229844	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacagtaacaGcagcagttcgtccggaccca	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67229844G>T	ENST00000379378.3	+	7	1027	c.968G>T	c.(967-969)aGc>aTc	p.S323I		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	323	Poly-Ser.				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		aacagtaacagcagcagTTCG	0.622													False	0	True	16:67229844	0	T	67229844	G	T	67229844	3	4	88	1	0	0	0	0	1	0	0	0	4899	971	34	3	994	3	E2F4	16	67229844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	67229844	23124909	15796	23508											
ELMO3	79767	broad.mit.edu	37	chr16	67233304	67233304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagctcatccagctggaCcaggtcacccggctggtccc	11	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67233304C>T	ENST00000393997.2	+	1	291	c.234C>T	c.(232-234)gaC>gaT	p.D78D	ELMO3_ENST00000360833.1_Silent_p.D78D	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	25					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TCCAGCTGGACCAGGTCACCC	0.716													False	0	False	16:67233304	0	T	67233304	C	T	67233304	2	4	88	1	0	0	0	0	0	0	0	1	5099	506	18	2		2	ELMO3	16	67233304	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3460	67233304	23121449	15797	23509											
ELMO3	79767	broad.mit.edu	37	chr16	67233635	67233635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcagtttgcggatggGcaccggagatacatcaccga	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67233635G>A	ENST00000393997.2	+	3	384	c.327G>A	c.(325-327)ggG>ggA	p.G109G	ELMO3_ENST00000477898.1_5'UTR|ELMO3_ENST00000360833.1_Silent_p.G109G	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	56					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TTGCGGATGGGCACCGGAGAT	0.672													False	0	True	16:67233635	0	A	67233635	G	A	67233635	2	1	88	1	0	0	0	0	0	0	0	1	5099	1190	42	2		2	ELMO3	16	67233635	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331	67233635	23121118	15798	23510											
ELMO3	79767	broad.mit.edu	37	chr16	67237764	67237764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacttctgctatgactgcaGcatcgctgaaccttgacagt	8	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67237764G>A	ENST00000393997.2	+	20	2363	c.2306G>A	c.(2305-2307)aGc>aAc	p.S769N	ELMO3_ENST00000477898.1_Missense_Mutation_p.S603N|ELMO3_ENST00000360833.1_Missense_Mutation_p.S752N	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	716					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TATGACTGCAGCATCGCTGAA	0.642													False	0	False	16:67237764	0	A	67237764	G	A	67237764	3	1	88	1	0	0	0	0	1	0	0	0	5099	971	34	2	2384	2	ELMO3	16	67237764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4129	67237764	23116989	15799	23511											
SLC9A5	6553	broad.mit.edu	37	chr16	67289057	67289057	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttatcatcgtctttggCgagtccctgctcaacgatgc	8	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67289057C>T	ENST00000299798.11	+	3	689	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	208					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCGTCTTTGGCGAGTCCCTGC	0.592													False	0	False	16:67289057	0	T	67289057	C	T	67289057	2	4	88	1	0	0	0	0	0	0	0	1	14797	755	27	1		1	SLC9A5	16	67289057	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51293	67289057	23065696	15800	23512											
SLC9A5	6553	broad.mit.edu	37	chr16	67292264	67292264	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgagtcagctgctgatgCgacgatcagcctaccgcatc	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67292264C>T	ENST00000299798.11	+	10	1605	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	514					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GCTGCTGATGCGACGATCAGC	0.592													False	0	False	16:67292264	0	T	67292264	C	T	67292264	4	4	88	1	0	0	0	0	0	1	0	0	14797	760	27	1	1578	1	SLC9A5	16	67292264	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3207	67292264	23062489	15801	23513											
KCTD19	146212	broad.mit.edu	37	chr16	67333397	67333397	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggccattgtgtagagCggtttcacggactccaggct	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67333397C>T	ENST00000304372.5	-	6	910	c.855G>A	c.(853-855)ccG>ccA	p.P285P	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	285						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTGTGTAGAGCGGTTTCACGG	0.632													False	0	False	16:67333397	0	T	67333397	C	T	67333397	2	4	88	1	0	0	0	0	0	0	0	1	8156	755	27	1		1	KCTD19	16	67333397	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41133	67333397	23021356	15802	23514											
KCTD19	146212	broad.mit.edu	37	chr16	67360624	67360624	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaccatggtcgcggctccaGcagcgggcgggcgggcttgt	18	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67360624G>T	ENST00000304372.5	-	0	42					NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19							voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CGCGGCTCCAGCAGCGGGCGG	0.756											OREG0023877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	16:67360624	0	T	67360624	G	T	67360624	1	4	88	1	0	0	0	0	0	0	0	0	8156	986	34	3		3	KCTD19	16	67360624	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27227	67360624	22994129	15803	23515											
TPPP3	51673	broad.mit.edu	37	chr16	67424128	67424128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattcttgtaggcgctcacGtagccactgtcgtccaggat	11	12	2	0	rs150292483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67424128G>A	ENST00000564104.1	-	3	1321	c.480C>T	c.(478-480)taC>taT	p.Y160Y	TPPP3_ENST00000393957.2_Silent_p.Y160Y|TPPP3_ENST00000290942.5_Silent_p.Y160Y|TPPP3_ENST00000562206.1_Silent_p.Y160Y			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	160					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		AGGCGCTCACGTAGCCACTGT	0.622													False	0	False	16:67424128	0	A	67424128	G	A	67424128	2	1	88	1	0	0	0	0	0	0	0	1	16498	1140	40	1		1	TPPP3	16	67424128	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63504	67424128	22930625	15804	23516											
ZDHHC1	29800	broad.mit.edu	37	chr16	67429051	67429051	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaggcttctttctatcccActccacctggaccggaggcc	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67429051A>C	ENST00000348579.2	-	10	1425	c.1084T>G	c.(1084-1086)Tgg>Ggg	p.W362G	ZDHHC1_ENST00000566075.1_Intron	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	362						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		TTTCTATCCCACTCCACCTGG	0.637													False	0	True	16:67429051	0	C	67429051	A	C	67429051	3	2	88	1	0	0	0	0	1	0	0	0	17683	159	6	4	381	4	ZDHHC1	16	67429051	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4923	67429051	22925702	15805	23517											
ZDHHC1	29800	broad.mit.edu	37	chr16	67432548	67432548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagaaggatgagcagggCggccagggccaggatggcag	19	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67432548C>T	ENST00000348579.2	-	7	1083	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	248						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		ATGAGCAGGGCGGCCAGGGCC	0.632													False	0	True	16:67432548	0	T	67432548	C	T	67432548	3	4	88	1	0	0	0	0	1	0	0	0	17683	768	27	1	735	1	ZDHHC1	16	67432548	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3497	67432548	22922205	15806	23518											
ZDHHC1	29800	broad.mit.edu	37	chr16	67432784	67432784	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaactccacgaagacataTgtggccaccagcaccaggag	10	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67432784T>C	ENST00000348579.2	-	6	935	c.594A>G	c.(592-594)acA>acG	p.T198T		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	198						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CGAAGACATATGTGGCCACCA	0.587													False	0	False	16:67432784	0	C	67432784	T	C	67432784	2	2	88	1	0	0	0	0	0	0	0	1	17683	1451	51	4		4	ZDHHC1	16	67432784	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	236	67432784	22921969	15807	23519											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67472759	67472759	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttgctacctgcaccctcgaaGagcagcttgtactcctggcc	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67472759G>A	ENST00000290949.3	-	7	981	c.831C>T	c.(829-831)ctC>ctT	p.L277L	ATP6V0D1_ENST00000602876.1_Silent_p.L200L|ATP6V0D1_ENST00000540149.1_Silent_p.L318L|ATP6V0D1_ENST00000567694.1_5'UTR	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	277					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CACCCTCGAAGAGCAGCTTGT	0.602													False	0	False	16:67472759	0	A	67472759	G	A	67472759	2	1	88	1	0	0	0	0	0	0	0	1	1177	929	33	2		2	ATP6V0D1	16	67472759	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39975	67472759	22881994	15808	23520											
FAM65A	79567	broad.mit.edu	37	chr16	67574550	67574550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggtagtggaaagcaggtGtgggacagtgaagaaaccat	17	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67574550G>A	ENST00000540839.3	+	11	1024	c.804G>A	c.(802-804)gtG>gtA	p.V268V	FAM65A_ENST00000379312.3_Silent_p.V252V|FAM65A_ENST00000428437.2_Silent_p.V262V|FAM65A_ENST00000042381.4_Silent_p.V248V|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000422602.2_Silent_p.V268V			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	252						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GAAAGCAGGTGTGGGACAGTG	0.542													False	0	False	16:67574550	0	A	67574550	G	A	67574550	2	1	88	1	0	0	0	0	0	0	0	1	5639	1364	48	2		2	FAM65A	16	67574550	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101791	67574550	22780203	15809	23521											
FAM65A	79567	broad.mit.edu	37	chr16	67578324	67578324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctgtaccactgcagtcGcctcctgctggtgaggctga	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67578324G>A	ENST00000540839.3	+	16	3000	c.2780G>A	c.(2779-2781)cGc>cAc	p.R927H	FAM65A_ENST00000379312.3_Missense_Mutation_p.R912H|FAM65A_ENST00000428437.2_Missense_Mutation_p.R922H|FAM65A_ENST00000042381.4_Missense_Mutation_p.R908H|FAM65A_ENST00000422602.2_Missense_Mutation_p.R928H			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	912						cytoplasm	binding	p.R908H(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CACTGCAGTCGCCTCCTGCTG	0.627													False	0	False	16:67578324	0	A	67578324	G	A	67578324	3	1	88	1	0	0	0	0	1	0	0	0	5639	1087	38	1	2777	1	FAM65A	16	67578324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3774	67578324	22776429	15810	23522											
FAM65A	79567	broad.mit.edu	37	chr16	67578667	67578667	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggctgctgcgggaagccCgagtactggaggcagtatgc	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67578667C>T	ENST00000540839.3	+	17	3080	c.2860C>T	c.(2860-2862)Cga>Tga	p.R954*	FAM65A_ENST00000379312.3_Nonsense_Mutation_p.R939*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R949*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R935*|FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R955*			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	939						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCGGGAAGCCCGAGTACTGGA	0.652													False	0	True	16:67578667	0	T	67578667	C	T	67578667	4	4	88	1	0	0	0	0	0	1	0	0	5639	644	23	1	2861	1	FAM65A	16	67578667	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343	67578667	22776086	15811	23523											
FAM65A	79567	broad.mit.edu	37	chr16	67579738	67579738	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacccagctccggagcctgtCactgggccctaccttccggg	11	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67579738C>T	ENST00000540839.3	+	20	3639	c.3419C>T	c.(3418-3420)tCa>tTa	p.S1140L	FAM65A_ENST00000379312.3_Missense_Mutation_p.S1125L|FAM65A_ENST00000428437.2_Missense_Mutation_p.S1135L|FAM65A_ENST00000042381.4_Missense_Mutation_p.S1121L|FAM65A_ENST00000422602.2_Missense_Mutation_p.S1141L			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1125						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CGGAGCCTGTCACTGGGCCCT	0.662													False	0	False	16:67579738	0	T	67579738	C	T	67579738	3	4	88	1	0	0	0	0	1	0	0	0	5639	838	29	2	3432	2	FAM65A	16	67579738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1071	67579738	22775015	15812	23524											
CTCF	10664	broad.mit.edu	37	chr16	67645871	67645871	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggtgtaaagaagacattcCagtgtgagctttgcagttac	11	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67645871C>T	ENST00000264010.4	+	4	1243	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	267					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAGACATTCCAGTGTGAGCT	0.388													False	0	False	16:67645871	0	T	67645871	C	T	67645871	4	4	88	1	0	0	0	0	0	1	0	0	4025	595	21	2	805	2	CTCF	16	67645871	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66133	67645871	22708882	15813	23525											
CTCF	10664	broad.mit.edu	37	chr16	67662366	67662366	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttccgccagaagcagcttCtcgacatgcacttcaagcgc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67662366C>A	ENST00000264010.4	+	9	2056	c.1612C>A	c.(1612-1614)Ctc>Atc	p.L538I	CTCF_ENST00000401394.1_Missense_Mutation_p.L210I	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	538					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAGCAGCTTCTCGACATGCA	0.547													False	0	False	16:67662366	0	A	67662366	C	A	67662366	3	1	88	1	0	0	0	0	1	0	0	0	4025	913	32	3	1638	3	CTCF	16	67662366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16495	67662366	22692387	15814	23526											
RLTPR	146206	broad.mit.edu	37	chr16	67680837	67680837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaccatcgccagggctgccGccatttcagcctgggagact	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67680837G>A	ENST00000334583.6	+	8	900	c.572G>A	c.(571-573)cGc>cAc	p.R191H	RLTPR_ENST00000545661.1_Missense_Mutation_p.R191H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	191										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGGGCTGCCGCCATTTCAGC	0.637													False	0	False	16:67680837	0	A	67680837	G	A	67680837	3	1	88	1	0	0	0	0	1	0	0	0	13473	1087	38	1	602	1	RLTPR	16	67680837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18471	67680837	22673916	15815	23527											
C16orf86	388284	broad.mit.edu	37	chr16	67702121	67702121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaaggcccagcgcctgcGgccgctgtaccagtacgtca	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67702121G>A	ENST00000403458.4	+	4	727	c.572G>A	c.(571-573)cGg>cAg	p.R191Q		NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	191										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CAGCGCCTGCGGCCGCTGTAC	0.662											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	16:67702121	0	A	67702121	G	A	67702121	3	1	88	1	0	0	0	0	1	0	0	0	1849	1116	39	1	586	1	C16orf86	16	67702121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21284	67702121	22652632	15816	23528											
CENPT	80152	broad.mit.edu	37	chr16	67865777	67865777	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtggggggctcgagctcagGaagttgcagctccaggctat	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67865777G>T	ENST00000562787.1	-	8	951	c.403C>A	c.(403-405)Cct>Act	p.P135T	CENPT_ENST00000564817.1_Missense_Mutation_p.P135T|CENPT_ENST00000440851.2_Missense_Mutation_p.P135T|CENPT_ENST00000219172.3_Missense_Mutation_p.P135T|CENPT_ENST00000445712.2_Missense_Mutation_p.P32T|CENPT_ENST00000562947.1_5'UTR	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	135					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCGAGCTCAGGAAGTTGCAGC	0.567													False	0	False	16:67865777	0	T	67865777	G	T	67865777	3	4	88	1	0	0	0	0	1	0	0	0	3265	1174	41	3	1318	3	CENPT	16	67865777	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163656	67865777	22488976	15817	23529											
EDC4	23644	broad.mit.edu	37	chr16	67914671	67914671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgagccagacagtatggCttcagccgcctcggcactgc	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67914671C>T	ENST00000358933.5	+	18	2548	c.2309C>T	c.(2308-2310)gCt>gTt	p.A770V		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	770					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GACAGTATGGCTTCAGCCGCC	0.667													False	0	False	16:67914671	0	T	67914671	C	T	67914671	3	4	88	1	0	0	0	0	1	0	0	0	4938	797	28	2	2379	2	EDC4	16	67914671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48894	67914671	22440082	15818	23530											
PSMB10	5699	broad.mit.edu	37	chr16	67969889	67969889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagcgtctggcgcaggatGcgagtgaccgtggccacgcg	17	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67969889G>A	ENST00000358514.4	-	4	697	c.360C>T	c.(358-360)cgC>cgT	p.R120R		NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GGCGCAGGATGCGAGTGACCG	0.657													False	0	False	16:67969889	0	A	67969889	G	A	67969889	2	1	88	1	0	0	0	0	0	0	0	1	12751	1306	46	2		2	PSMB10	16	67969889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55218	67969889	22384864	15819	23531											
SLC12A4	6560	broad.mit.edu	37	chr16	67980961	67980961	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaggagccgcgggtacTtcacgtggaggtcctcgtcc	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67980961T>G	ENST00000422611.2	-	16	2165	c.2126A>C	c.(2125-2127)aAg>aCg	p.K709T	SLC12A4_ENST00000576616.1_Missense_Mutation_p.K707T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.K707T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.K659T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K701T|SLC12A4_ENST00000541864.2_Missense_Mutation_p.K676T|SLC12A4_ENST00000316341.3_Missense_Mutation_p.K707T	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	707					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGCGGGTACTTCACGTGGAG	0.652													False	0	False	16:67980961	0	G	67980961	T	G	67980961	3	3	88	1	0	0	0	0	1	0	0	0	14466	1609	56	4	1169	4	SLC12A4	16	67980961	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11072	67980961	22373792	15820	23532											
SLC12A4	6560	broad.mit.edu	37	chr16	67984390	67984390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttcctgctgacaccatcGccatacctgcaggggccacc	9	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67984390G>A	ENST00000422611.2	-	11	1506	c.1467C>T	c.(1465-1467)ggC>ggT	p.G489G	SLC12A4_ENST00000576616.1_Silent_p.G487G|SLC12A4_ENST00000338335.3_Silent_p.G487G|SLC12A4_ENST00000572037.1_Silent_p.G439G|SLC12A4_ENST00000537830.2_Silent_p.G481G|SLC12A4_ENST00000541864.2_Silent_p.G456G|SLC12A4_ENST00000316341.3_Silent_p.G487G	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	487					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGACACCATCGCCATACCTGC	0.627													False	0	False	16:67984390	0	A	67984390	G	A	67984390	2	1	88	1	0	0	0	0	0	0	0	1	14466	1074	38	1		1	SLC12A4	16	67984390	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3429	67984390	22370363	15821	23533											
DPEP3	64180	broad.mit.edu	37	chr16	68011244	68011244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtgtcaccatcacgatgCcaccgttcttcttctagagg	8	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68011244C>T	ENST00000268793.4	-	7	1395	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	316					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CATCACGATGCCACCGTTCTT	0.567													False	0	False	16:68011244	0	T	68011244	C	T	68011244	3	4	88	1	0	0	0	0	1	0	0	0	4745	739	26	2	535	2	DPEP3	16	68011244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26854	68011244	22343509	15822	23534											
DDX28	55794	broad.mit.edu	37	chr16	68055940	68055940	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccagtcctttctgctctgTcacgatgcttgaggatgtgc	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68055940T>C	ENST00000332395.5	-	1	1830	c.1166A>G	c.(1165-1167)gAc>gGc	p.D389G		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	389	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TTCTGCTCTGTCACGATGCTT	0.493													False	0	False	16:68055940	0	C	68055940	T	C	68055940	3	2	88	1	0	0	0	0	1	0	0	0	4380	1667	58	4	460	4	DDX28	16	68055940	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44696	68055940	22298813	15823	23535											
NFATC3	4775	broad.mit.edu	37	chr16	68156009	68156009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtctcactcttctgttttgTcaccatcgtttcagctccaa	5	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68156009T>C	ENST00000349223.5	+	2	447	c.223T>C	c.(223-225)Tca>Cca	p.S75P	RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000346183.3_Missense_Mutation_p.S75P|NFATC3_ENST00000329524.4_Missense_Mutation_p.S75P|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.S75P	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	75			S -> L (in dbSNP:rs2230092).		inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TTCTGTTTTGTCACCATCGTT	0.408													False	0	False	16:68156009	0	C	68156009	T	C	68156009	3	2	88	1	0	0	0	0	1	0	0	0	10432	1667	58	4	229	4	NFATC3	16	68156009	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	100069	68156009	22198744	15824	23536											
NFATC3	4775	broad.mit.edu	37	chr16	68156483	68156483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaacagtatggacttggaCactcattatcacccaggcaa	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68156483C>T	ENST00000349223.5	+	2	921	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	NFATC3_ENST00000346183.3_Missense_Mutation_p.H233Y|NFATC3_ENST00000329524.4_Missense_Mutation_p.H233Y|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.H233Y	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	233	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGGACTTGGACACTCATTATC	0.552													False	0	False	16:68156483	0	T	68156483	C	T	68156483	3	4	88	1	0	0	0	0	1	0	0	0	10432	478	17	2	703	2	NFATC3	16	68156483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	474	68156483	22198270	15825	23537											
ESRP2	80004	broad.mit.edu	37	chr16	68264135	68264135	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggctttctctcctacaaAcacacccattccttgggggc	7	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68264135A>C	ENST00000473183.2	-	15	2686	c.2148T>G	c.(2146-2148)tgT>tgG	p.C716W	ESRP2_ENST00000565858.1_Missense_Mutation_p.C726W			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	726					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TCTCCTACAAACACACCCATT	0.542											OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	16:68264135	0	C	68264135	A	C	68264135	3	2	88	1	0	0	0	0	1	0	0	0	5291	41	2	4	9	4	ESRP2	16	68264135	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	107652	68264135	22090618	15826	23538											
ESRP2	80004	broad.mit.edu	37	chr16	68264366	68264366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgcatgcggaccaaggCtcctgactgggacaacactg	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68264366C>T	ENST00000473183.2	-	14	2528	c.1990G>A	c.(1990-1992)Gcc>Acc	p.A664T	ESRP2_ENST00000565858.1_Missense_Mutation_p.A674T			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	674					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CGGACCAAGGCTCCTGACTGG	0.632													False	0	False	16:68264366	0	T	68264366	C	T	68264366	3	4	88	1	0	0	0	0	1	0	0	0	5291	797	28	2	171	2	ESRP2	16	68264366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231	68264366	22090387	15827	23539											
PLA2G15	23659	broad.mit.edu	37	chr16	68293398	68293398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctgctttggtgacggCgatggtactgtgaacttgaa	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68293398C>T	ENST00000219345.5	+	6	1160	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G	RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000444212.2_Silent_p.G159G|PLA2G15_ENST00000413021.2_Silent_p.G265G	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	359					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TTGGTGACGGCGATGGTACTG	0.587													False	0	False	16:68293398	0	T	68293398	C	T	68293398	2	4	88	1	0	0	0	0	0	0	0	1	12061	755	27	1		1	PLA2G15	16	68293398	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29032	68293398	22061355	15828	23540											
PRMT7	54496	broad.mit.edu	37	chr16	68373238	68373238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttaggaaaattgtgaggCcgtgccccacagagccaccg	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68373238C>T	ENST00000339507.5	+	8	1348	c.518C>T	c.(517-519)gCc>gTc	p.A173V	PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Missense_Mutation_p.A123V|PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	173					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AATTGTGAGGCCGTGCCCCAC	0.463													False	0	False	16:68373238	0	T	68373238	C	T	68373238	3	4	88	1	0	0	0	0	1	0	0	0	12617	739	26	2	540	2	PRMT7	16	68373238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79840	68373238	21981515	15829	23541											
PRMT7	54496	broad.mit.edu	37	chr16	68387411	68387411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggacctgtggcggatccGgagcccctgtggtgactgcg	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68387411G>A	ENST00000339507.5	+	16	2422	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	PRMT7_ENST00000348497.4_Missense_Mutation_p.R383Q|PRMT7_ENST00000449359.3_Missense_Mutation_p.R481Q|PRMT7_ENST00000441236.1_Missense_Mutation_p.R481Q			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	531					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGGCGGATCCGGAGCCCCTGT	0.617													False	0	False	16:68387411	0	A	68387411	G	A	68387411	3	1	88	1	0	0	0	0	1	0	0	0	12617	1116	39	1	1646	1	PRMT7	16	68387411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14173	68387411	21967342	15830	23542											
SMPD3	55512	broad.mit.edu	37	chr16	68404770	68404770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctcctaccttgagaaAcagagctcccttagaggcca	10	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68404770A>G	ENST00000219334.5	-	3	1918	c.1315T>C	c.(1315-1317)Ttt>Ctt	p.F439L	SMPD3_ENST00000563226.1_Missense_Mutation_p.F439L|SMPD3_ENST00000568373.1_Missense_Mutation_p.F439L|SMPD3_ENST00000566009.1_5'UTR	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	439					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ACCTTGAGAAACAGAGCTCCC	0.612													False	0	True	16:68404770	0	G	68404770	A	G	68404770	3	3	88	1	0	0	0	0	1	0	0	0	14886	43	2	4	680	4	SMPD3	16	68404770	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17359	68404770	21949983	15831	23543											
CDH1	999	broad.mit.edu	37	chr16	68863587	68863587	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagccagctgcacaggggcCtggacgctcggcctgaagtg	16	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68863587C>A	ENST00000261769.5	+	15	2517	c.2326C>A	c.(2326-2328)Ctg>Atg	p.L776M	CDH1_ENST00000422392.2_Missense_Mutation_p.L715M|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	776					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCACAGGGGCCTGGACGCTCG	0.507			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				False	0	False	16:68863587	0	A	68863587	C	A	68863587	3	1	88	1	0	0	0	0	1	0	0	0	3118	680	24	3	2384	3	CDH1	16	68863587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	458817	68863587	21491166	15832	23544											
HAS3	3038	broad.mit.edu	37	chr16	69143880	69143880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagtggggaggcaagcgCgaggtcatgtacacggcctt	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69143880C>T	ENST00000306560.1	+	2	738	c.582C>T	c.(580-582)cgC>cgT	p.R194R	HAS3_ENST00000219322.3_Silent_p.R194R|HAS3_ENST00000569188.1_Silent_p.R194R	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	194					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GAGGCAAGCGCGAGGTCATGT	0.627													False	0	False	16:69143880	0	T	69143880	C	T	69143880	2	4	88	1	0	0	0	0	0	0	0	1	7010	755	27	1		1	HAS3	16	69143880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280293	69143880	21210873	15833	23545											
HAS3	3038	broad.mit.edu	37	chr16	69148647	69148647	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcaccacctctggatgacCtacgagtcagtggtcacggg	12	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69148647C>A	ENST00000306560.1	+	4	1296	c.1140C>A	c.(1138-1140)acC>acA	p.T380T	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Silent_p.T380T	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	380					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCTGGATGACCTACGAGTCAG	0.547													False	0	False	16:69148647	0	A	69148647	C	A	69148647	2	1	88	1	0	0	0	0	0	0	0	1	7010	668	24	3		3	HAS3	16	69148647	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4767	69148647	21206106	15834	23546											
CIRH1A	84916	broad.mit.edu	37	chr16	69199419	69199419	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacatgttctgcatcattgAcaagtcattggtgagttctt	8	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69199419A>C	ENST00000563094.1	+	15	1857	c.1823A>C	c.(1822-1824)gAc>gCc	p.D608A	CIRH1A_ENST00000352319.4_Missense_Mutation_p.D493A|CIRH1A_ENST00000314423.7_Missense_Mutation_p.D608A			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	608						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TGCATCATTGACAAGTCATTG	0.423													False	0	False	16:69199419	0	C	69199419	A	C	69199419	3	2	88	1	0	0	0	0	1	0	0	0	3457	275	10	4	1877	4	CIRH1A	16	69199419	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	50772	69199419	21155334	15835	23547											
TERF2	7014	broad.mit.edu	37	chr16	69395344	69395344	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcatcctcttccacccaagtCtccttttcttcaaccccatt	1	18	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69395344C>T	ENST00000254942.3	-	8	1405	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	TERF2_ENST00000603068.1_Silent_p.E421E	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	421	HTH myb-type.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CCACCCAAGTCTCCTTTTCTT	0.463													False	0	False	16:69395344	0	T	69395344	C	T	69395344	2	4	88	1	0	0	0	0	0	0	0	1	15844	912	32	2		2	TERF2	16	69395344	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195925	69395344	20959409	15836	23548											
NFAT5	10725	broad.mit.edu	37	chr16	69725910	69725910	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactattgcagcaggctacaCagtttcagacaagagaaact	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69725910C>T	ENST00000349945.1	+	14	3452	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q727*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.Q710*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q634*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q728*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	710					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCAGGCTACACAGTTTCAGAC	0.453													False	0	False	16:69725910	0	T	69725910	C	T	69725910	4	4	88	1	0	0	0	0	0	1	0	0	10428	479	17	2	2232	2	NFAT5	16	69725910	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	330566	69725910	20628843	15837	23549											
NFAT5	10725	broad.mit.edu	37	chr16	69725929	69725929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtttcagacaagagaaaCtcagtctagagagatattac	8	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69725929C>T	ENST00000349945.1	+	14	3471	c.1919C>T	c.(1918-1920)aCt>aTt	p.T640I	NFAT5_ENST00000567239.1_Missense_Mutation_p.T733I|NFAT5_ENST00000354436.2_Missense_Mutation_p.T716I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T640I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T640I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T734I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	716					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACAAGAGAAACTCAGTCTAGA	0.453													False	0	True	16:69725929	0	T	69725929	C	T	69725929	3	4	88	1	0	0	0	0	1	0	0	0	10428	565	20	2	2251	2	NFAT5	16	69725929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	69725929	20628824	15838	23550											
WWP2	11060	broad.mit.edu	37	chr16	69922018	69922018	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtccccacctgctgcaccCttgagtgtgaccccgaatcc	8	18	0	2	rs145327694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69922018C>A	ENST00000359154.2	+	8	881	c.780C>A	c.(778-780)ccC>ccA	p.P260P	WWP2_ENST00000569174.1_Silent_p.P260P|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Silent_p.P260P|WWP2_ENST00000448661.1_Silent_p.P260P|WWP2_ENST00000542271.1_Silent_p.P144P	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	260					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGCTGCACCCTTGAGTGTGA	0.557													False	0	True	16:69922018	0	A	69922018	C	A	69922018	2	1	88	1	0	0	0	0	0	0	0	1	17500	668	24	3		3	WWP2	16	69922018	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196089	69922018	20432735	15839	23551											
WWP2	11060	broad.mit.edu	37	chr16	69971090	69971090	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcctggatggcttcaaCgaggtggccccgctggagtg	15	12	1	0	rs144693307	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69971090C>T	ENST00000359154.2	+	20	2288	c.2187C>T	c.(2185-2187)aaC>aaT	p.N729N	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Silent_p.N729N|WWP2_ENST00000568684.1_Silent_p.N290N|WWP2_ENST00000448661.1_Silent_p.N729N|WWP2_ENST00000542271.1_Silent_p.N613N	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	729	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGGCTTCAACGAGGTGGCCC	0.612													False	0	False	16:69971090	0	T	69971090	C	T	69971090	2	4	88	1	0	0	0	0	0	0	0	1	17500	535	19	1		1	WWP2	16	69971090	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49072	69971090	20383663	15840	23552											
PDPR	55066	broad.mit.edu	37	chr16	70190411	70190411	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggtcgcgacgccctcctgCagcagaagcagaatggagtg	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70190411C>T	ENST00000288050.4	+	19	3226	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_Nonsense_Mutation_p.Q102*|PDPR_ENST00000398122.3_Nonsense_Mutation_p.Q657*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.Q757*|PDPR_ENST00000567046.1_Nonsense_Mutation_p.Q115*|RP11-296I10.3_ENST00000566989.1_RNA	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	757					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CGCCCTCCTGCAGCAGAAGCA	0.542													False	0	False	16:70190411	0	T	70190411	C	T	70190411	4	4	88	1	0	0	0	0	0	1	0	0	11757	711	25	2	2335	2	PDPR	16	70190411	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219321	70190411	20164342	15841	23553											
AARS	16	broad.mit.edu	37	chr16	70286690	70286690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgcagcgcctcctgcagGcagccaacgttcttgcctgt	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70286690G>A	ENST00000261772.8	-	21	2984	c.2841C>T	c.(2839-2841)tgC>tgT	p.C947C		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	947					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CCTCCTGCAGGCAGCCAACGT	0.607											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	16:70286690	0	A	70286690	G	A	70286690	2	1	88	1	0	0	0	0	0	0	0	1	19	1195	42	2		2	AARS	16	70286690	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96279	70286690	20068063	15842	23554											
AARS	16	broad.mit.edu	37	chr16	70287683	70287683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggggttgctgtcgatgaaCtgcttcgtcttctctaacac	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70287683C>A	ENST00000261772.8	-	19	2684	c.2541G>T	c.(2539-2541)caG>caT	p.Q847H		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	847					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TGTCGATGAACTGCTTCGTCT	0.602											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	16:70287683	0	A	70287683	C	A	70287683	3	1	88	1	0	0	0	0	1	0	0	0	19	564	20	3	377	3	AARS	16	70287683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	993	70287683	20067070	15843	23555											
FUK	197258	broad.mit.edu	37	chr16	70501802	70501802	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatagggccttgttttggAcatttactaccagggcactg	10	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70501802A>G	ENST00000288078.6	+	8	828	c.596A>G	c.(595-597)gAc>gGc	p.D199G	FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.D231G	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	199						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CTTGTTTTGGACATTTACTAC	0.597													False	0	False	16:70501802	0	G	70501802	A	G	70501802	3	3	88	1	0	0	0	0	1	0	0	0	6138	275	10	4	622	4	FUK	16	70501802	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	214119	70501802	19852951	15844	23556											
COG4	25839	broad.mit.edu	37	chr16	70534950	70534950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtaagtatagctcactgCgggcattcatcagggtgacc	12	10	3	1	rs146268306	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70534950C>T	ENST00000323786.5	-	9	1127	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	365					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.R369H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TAGCTCACTGCGGGCATTCAT	0.478													False	0	True	16:70534950	0	T	70534950	C	T	70534950	3	4	88	1	0	0	0	0	1	0	0	0	3683	768	27	1	1307	1	COG4	16	70534950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33148	70534950	19819803	15845	23557											
COG4	25839	broad.mit.edu	37	chr16	70557354	70557354	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaatgagctcagcggagatTtcggagcagcggccacctcc	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70557354T>G	ENST00000323786.5	-	1	114	c.93A>C	c.(91-93)gaA>gaC	p.E31D	COG4_ENST00000564653.1_Missense_Mutation_p.E31D|COG4_ENST00000393612.4_Missense_Mutation_p.E27D	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	27	Interacts with SCFD1.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CAGCGGAGATTTCGGAGCAGC	0.637													False	0	True	16:70557354	0	G	70557354	T	G	70557354	3	3	88	1	0	0	0	0	1	0	0	0	3683	1838	64	4	2352	4	COG4	16	70557354	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22404	70557354	19797399	15846	23558											
SF3B3	23450	broad.mit.edu	37	chr16	70589013	70589013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtcaatgagtggaagacCcctggaaagaaaacaattgt	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589013C>T	ENST00000302516.5	+	13	1825	c.1614C>T	c.(1612-1614)acC>acT	p.T538T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	538					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTGGAAGACCCCTGGAAAGA	0.458													False	0	True	16:70589013	0	T	70589013	C	T	70589013	2	4	88	1	0	0	0	0	0	0	0	1	14233	610	22	2		2	SF3B3	16	70589013	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31659	70589013	19765740	15847	23559											
SF3B3	23450	broad.mit.edu	37	chr16	70589061	70589061	+	Silent	SNP	G	G	A													gcagtgaaccagcgacaagtGgtgattgccctgacaggagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589061G>A	ENST00000302516.5	+	13	1873	c.1662G>A	c.(1660-1662)gtG>gtA	p.V554V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	554					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGCGACAAGTGGTGATTGCCC	0.468													False	0	False	16:70589061	0	A	70589061	G	A	70589061	2	1	88	1	0	0	0	0	0	0	0	1	14233	1335	47	2		2	SF3B3	16	70589061	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	70589061	19765692	15848	23560	251	2									
SF3B3	23450	broad.mit.edu	37	chr16	70589068	70589068	+	Missense_Mutation	SNP	G	G	A													accagcgacaagtggtgattGccctgacaggaggagagctg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589068G>A	ENST00000302516.5	+	13	1880	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	557					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTGGTGATTGCCCTGACAGG	0.473													False	0	True	16:70589068	0	A	70589068	G	A	70589068	3	1	88	1	0	0	0	0	1	0	0	0	14233	1319	46	2	1715	2	SF3B3	16	70589068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	70589068	19765685	15849	23561	251	2									
SF3B3	23450	broad.mit.edu	37	chr16	70603981	70603981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaccacgctgatccctggaGgctcagaatcacttgtctat	9	12	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70603981G>T	ENST00000302516.5	+	24	3548	c.3337G>T	c.(3337-3339)Ggc>Tgc	p.G1113C		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1113					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GATCCCTGGAGGCTCAGAATC	0.532													False	0	False	16:70603981	0	T	70603981	G	T	70603981	3	4	88	1	0	0	0	0	1	0	0	0	14233	1000	35	3	3427	3	SF3B3	16	70603981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14913	70603981	19750772	15850	23562											
SF3B3	23450	broad.mit.edu	37	chr16	70605707	70605707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatatccggacccgctaCgccttctgagccctcctttc	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70605707C>T	ENST00000302516.5	+	26	3856	c.3645C>T	c.(3643-3645)taC>taT	p.Y1215Y		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1215					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGACCCGCTACGCCTTCTGAG	0.552													False	0	False	16:70605707	0	T	70605707	C	T	70605707	2	4	88	1	0	0	0	0	0	0	0	1	14233	547	19	1		1	SF3B3	16	70605707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1726	70605707	19749046	15851	23563											
MTSS1L	92154	broad.mit.edu	37	chr16	70698336	70698336	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatccccattcacggagtaGcagtcgtagtcggagcctgg	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70698336G>T	ENST00000338779.6	-	15	1762	c.1488C>A	c.(1486-1488)tgC>tgA	p.C496*	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	496					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCACGGAGTAGCAGTCGTAGT	0.672													False	0	False	16:70698336	0	T	70698336	G	T	70698336	4	4	88	1	0	0	0	0	0	1	0	0	10030	963	34	3	759	3	MTSS1L	16	70698336	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92629	70698336	19656417	15852	23564											
MTSS1L	92154	broad.mit.edu	37	chr16	70714875	70714875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccacctcacctcagctgGgaatgcagcttcgtggcctt	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70714875G>A	ENST00000338779.6	-	2	397	c.123C>T	c.(121-123)tcC>tcT	p.S41S		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	41	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						ACCTCAGCTGGGAATGCAGCT	0.647													False	0	True	16:70714875	0	A	70714875	G	A	70714875	2	1	88	1	0	0	0	0	0	0	0	1	10030	1219	43	2		2	MTSS1L	16	70714875	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16539	70714875	19639878	15853	23565											
VAC14	55697	broad.mit.edu	37	chr16	70778369	70778369	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgccaggggtgggcacctgGagctctgagtggctggcctg	18	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70778369G>T	ENST00000261776.5	-	13	1745	c.1485C>A	c.(1483-1485)ctC>ctA	p.L495L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	495					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGGGCACCTGGAGCTCTGAGT	0.642													False	0	False	16:70778369	0	T	70778369	G	T	70778369	2	4	88	1	0	0	0	0	0	0	0	1	17195	1161	41	3		3	VAC14	16	70778369	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63494	70778369	19576384	15854	23566											
VAC14	55697	broad.mit.edu	37	chr16	70815788	70815788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacttttcttgcggtcatcGtaggccaagcagggcaagac	11	10	2	1	rs145425796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70815788G>A	ENST00000261776.5	-	8	1190	c.930C>T	c.(928-930)taC>taT	p.Y310Y		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	310					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCGGTCATCGTAGGCCAAGC	0.572													False	0	False	16:70815788	0	A	70815788	G	A	70815788	2	1	88	1	0	0	0	0	0	0	0	1	17195	1140	40	1		1	VAC14	16	70815788	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37419	70815788	19538965	15855	23567											
VAC14	55697	broad.mit.edu	37	chr16	70818699	70818699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttaaaaggcggtctaggaGctcagatccgcttttcacat	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70818699G>A	ENST00000261776.5	-	4	726	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	156					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CGGTCTAGGAGCTCAGATCCG	0.498													False	0	False	16:70818699	0	A	70818699	G	A	70818699	3	1	88	1	0	0	0	0	1	0	0	0	17195	971	34	2	1946	2	VAC14	16	70818699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2911	70818699	19536054	15856	23568											
HYDIN	54768	broad.mit.edu	37	chr16	70841708	70841708	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggagaaggtcaccatgtgAtagaagacattcttgaaggg	13	5	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70841708A>G	ENST00000393567.2	-	86	15291	c.15141T>C	c.(15139-15141)taT>taC	p.Y5047Y		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5047										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCACCATGTGATAGAAGACAT	0.532													False	0	False	16:70841708	0	G	70841708	A	G	70841708	2	3	88	1	0	0	0	0	0	0	0	1	7517	340	12	4		4	HYDIN	16	70841708	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23009	70841708	19513045	15857	23569											
HYDIN	54768	broad.mit.edu	37	chr16	70954552	70954552	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttccagctcaagccttcaAagtctggtgtctggatgtct	10	11	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70954552A>G	ENST00000393567.2	-	46	7877	c.7727T>C	c.(7726-7728)tTt>tCt	p.F2576S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2576										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAAGCCTTCAAAGTCTGGTGT	0.592													False	0	True	16:70954552	0	G	70954552	A	G	70954552	3	3	88	1	0	0	0	0	1	0	0	0	7517	14	1	4	7802	4	HYDIN	16	70954552	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112844	70954552	19400201	15858	23570											
ZNF19	7567	broad.mit.edu	37	chr16	71510112	71510112	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgaccatgtgacatcatcCcatctctttcttcagaaatt	5	12	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71510112C>A	ENST00000288177.5	-	6	593	c.338G>T	c.(337-339)gGg>gTg	p.G113V	ZNF19_ENST00000565637.1_Missense_Mutation_p.G71V|ZNF19_ENST00000565100.2_Missense_Mutation_p.G43V|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.G113V	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	113						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TGACATCATCCCATCTCTTTC	0.428													False	0	True	16:71510112	0	A	71510112	C	A	71510112	3	1	88	1	0	0	0	0	1	0	0	0	17838	623	22	3	1042	3	ZNF19	16	71510112	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	555560	71510112	18844641	15859	23571											
TAT	6898	broad.mit.edu	37	chr16	71604256	71604256	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctccctggacaatggtacaGggtcccaaaatgcgctgact	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71604256G>T	ENST00000355962.4	-	9	1090	c.957C>A	c.(955-957)ccC>ccA	p.P319P	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	319					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CAATGGTACAGGGTCCCAAAA	0.493													False	0	True	16:71604256	0	T	71604256	G	T	71604256	2	4	88	1	0	0	0	0	0	0	0	1	15672	987	35	3		3	TAT	16	71604256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94144	71604256	18750497	15860	23572											
TAT	6898	broad.mit.edu	37	chr16	71604584	71604584	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctttcaccatattatcacctCattgccaaaaatgtctcttc	2	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71604584C>T	ENST00000355962.4	-	8	1043	c.910G>A	c.(910-912)Gag>Aag	p.E304K	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	304					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	ATTATCACCTCATTGCCAAAA	0.473													False	0	False	16:71604584	0	T	71604584	C	T	71604584	3	4	88	1	0	0	0	0	1	0	0	0	15672	835	29	2	474	2	TAT	16	71604584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	328	71604584	18750169	15861	23573											
MARVELD3	91862	broad.mit.edu	37	chr16	71674597	71674597	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgttgtcagggaagtggctCctcacggaggccgccttcag	14	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71674597C>T	ENST00000299952.4	+	3	943	c.900C>T	c.(898-900)ctC>ctT	p.L300L	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	303	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGAAGTGGCTCCTCACGGAGG	0.567													False	0	False	16:71674597	0	T	71674597	C	T	71674597	2	4	88	1	0	0	0	0	0	0	0	1	9386	842	30	2		2	MARVELD3	16	71674597	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70013	71674597	18680156	15862	23574											
PHLPP2	23035	broad.mit.edu	37	chr16	71683709	71683709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgtcctgacagccatagCtctgcgctaatgtgcacagc	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71683709C>T	ENST00000393524.2	-	17	3588	c.2855G>A	c.(2854-2856)aGc>aAc	p.S952N	PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S1019N|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S1054N|PHLPP2_ENST00000568954.1_Missense_Mutation_p.S1019N			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1019	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACAGCCATAGCTCTGCGCTAA	0.493													False	0	False	16:71683709	0	T	71683709	C	T	71683709	3	4	88	1	0	0	0	0	1	0	0	0	11924	797	28	2	919	2	PHLPP2	16	71683709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9112	71683709	18671044	15863	23575											
PHLPP2	23035	broad.mit.edu	37	chr16	71686695	71686695	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcggggagcggaacacacctCtgtgatgatggctttttggt	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71686695C>T	ENST00000393524.2	-	16	3347	c.2614G>A	c.(2614-2616)Gag>Aag	p.E872K	PHLPP2_ENST00000540628.1_Missense_Mutation_p.E149K|PHLPP2_ENST00000356272.3_Missense_Mutation_p.E939K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.E939K|PHLPP2_ENST00000567016.1_Missense_Mutation_p.E974K|PHLPP2_ENST00000568954.1_Missense_Mutation_p.E939K			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	939	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAACACACCTCTGTGATGATG	0.557													False	0	False	16:71686695	0	T	71686695	C	T	71686695	3	4	88	1	0	0	0	0	1	0	0	0	11924	922	32	2	1164	2	PHLPP2	16	71686695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2986	71686695	18668058	15864	23576											
PHLPP2	23035	broad.mit.edu	37	chr16	71692594	71692594	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtatttctgggaaaatgcTgatgttgttggagtgtgcaa	13	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71692594T>C	ENST00000393524.2	-	12	2642	c.1909A>G	c.(1909-1911)Agc>Ggc	p.S637G	PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S704G|PHLPP2_ENST00000360429.3_Missense_Mutation_p.S704G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S739G|PHLPP2_ENST00000568954.1_Missense_Mutation_p.S704G|RP11-432I5.6_ENST00000567077.1_RNA			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	704						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGGAAAATGCTGATGTTGTTG	0.458													False	0	False	16:71692594	0	C	71692594	T	C	71692594	3	2	88	1	0	0	0	0	1	0	0	0	11924	1580	55	4	1885	4	PHLPP2	16	71692594	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5899	71692594	18662159	15865	23577											
PHLPP2	23035	broad.mit.edu	37	chr16	71713307	71713307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttactttagcagattgccaAtttgacttggtaggtcatga	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71713307A>G	ENST00000393524.2	-	6	1755	c.1022T>C	c.(1021-1023)aTt>aCt	p.I341T	PHLPP2_ENST00000356272.3_Missense_Mutation_p.I341T|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I341T|PHLPP2_ENST00000567016.1_Missense_Mutation_p.I376T|PHLPP2_ENST00000568954.1_Missense_Mutation_p.I341T			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	341						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CAGATTGCCAATTTGACTTGG	0.388													False	0	True	16:71713307	0	G	71713307	A	G	71713307	3	3	88	1	0	0	0	0	1	0	0	0	11924	101	4	4	3001	4	PHLPP2	16	71713307	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20713	71713307	18641446	15866	23578											
DHODH	1723	broad.mit.edu	37	chr16	72055168	72055168	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaacactgccgggctgcgGagccttcagggaaaggccga	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72055168G>A	ENST00000572887.1	+	5	840	c.663G>A	c.(661-663)cgG>cgA	p.R221R	DHODH_ENST00000573922.1_Intron|DHODH_ENST00000219240.4_Silent_p.R221R			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	221					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CCGGGCTGCGGAGCCTTCAGG	0.697													False	0	False	16:72055168	0	A	72055168	G	A	72055168	2	1	88	1	0	0	0	0	0	0	0	1	4514	1161	41	2		2	DHODH	16	72055168	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	341861	72055168	18299585	15867	23579											
HPR	3250	broad.mit.edu	37	chr16	72110289	72110289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagctttccctggcaggCtaagatggtttcccaccata	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72110289C>T	ENST00000540303.2	+	5	388	c.356C>T	c.(355-357)gCt>gTt	p.A119V	HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.A119V|HPR_ENST00000228226.8_Missense_Mutation_p.A156V	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	119	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CCCTGGCAGGCTAAGATGGTT	0.532													False	0	False	16:72110289	0	T	72110289	C	T	72110289	3	4	88	1	0	0	0	0	1	0	0	0	7384	797	28	2	374	2	HPR	16	72110289	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55121	72110289	18244464	15868	23580											
DHX38	9785	broad.mit.edu	37	chr16	72138495	72138495	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttccacatccctggccgTaccttccctgttgacatcct	5	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72138495T>C	ENST00000268482.3	+	15	2630	c.2121T>C	c.(2119-2121)cgT>cgC	p.R707R	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	707					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCTGGCCGTACCTTCCCTG	0.547													False	0	False	16:72138495	0	C	72138495	T	C	72138495	2	2	88	1	0	0	0	0	0	0	0	1	4541	1625	57	4		4	DHX38	16	72138495	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28206	72138495	18216258	15869	23581											
DHX38	9785	broad.mit.edu	37	chr16	72141387	72141387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcatggacccgcccccgGaggacaacatgctcaactct	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72141387G>A	ENST00000268482.3	+	20	3258	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	DHX38_ENST00000536867.1_Missense_Mutation_p.E229K	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	917					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCCGCCCCCGGAGGACAACAT	0.632													False	0	False	16:72141387	0	A	72141387	G	A	72141387	3	1	88	1	0	0	0	0	1	0	0	0	4541	1175	41	2	2823	2	DHX38	16	72141387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2892	72141387	18213366	15870	23582											
ZFHX3	463	broad.mit.edu	37	chr16	72821372	72821372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaggagggggcggcggcCgacgggggaggggggctgtc	27	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821372C>T	ENST00000268489.5	-	10	11475	c.10803G>A	c.(10801-10803)tcG>tcA	p.S3601S	ZFHX3_ENST00000397992.5_Silent_p.S2687S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3601					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGCGGCGGCCGACGGGGGAG	0.652													False	0	True	16:72821372	0	T	72821372	C	T	72821372	2	4	88	1	0	0	0	0	0	0	0	1	17717	639	23	1		1	ZFHX3	16	72821372	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	679985	72821372	17533381	15871	23583											
ZFHX3	463	broad.mit.edu	37	chr16	72821392	72821392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgacgggggaggggggctgtCgtttgagtgagcggcagact	21	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821392C>T	ENST00000268489.5	-	10	11455	c.10783G>A	c.(10783-10785)Gac>Aac	p.D3595N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D2681N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3595					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGGGGCTGTCGTTTGAGTGA	0.642													False	0	False	16:72821392	0	T	72821392	C	T	72821392	3	4	88	1	0	0	0	0	1	0	0	0	17717	884	31	1	332	1	ZFHX3	16	72821392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	72821392	17533361	15872	23584											
ZFHX3	463	broad.mit.edu	37	chr16	72821414	72821414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgagtgagcggcagactgCgaggtagatgcggtgctagg	18	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821414C>T	ENST00000268489.5	-	10	11433	c.10761G>A	c.(10759-10761)tcG>tcA	p.S3587S	ZFHX3_ENST00000397992.5_Silent_p.S2673S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3587					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGCAGACTGCGAGGTAGATG	0.617													False	0	False	16:72821414	0	T	72821414	C	T	72821414	2	4	88	1	0	0	0	0	0	0	0	1	17717	755	27	1		1	ZFHX3	16	72821414	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	72821414	17533339	15873	23585											
ZFHX3	463	broad.mit.edu	37	chr16	72822080	72822080	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagactctgctggtattgCtggtactgctgcagtaggga	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822080C>T	ENST00000268489.5	-	10	10767	c.10095G>A	c.(10093-10095)caG>caA	p.Q3365Q	ZFHX3_ENST00000397992.5_Silent_p.Q2451Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3365					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGTATTGCTGGTACTGCT	0.592													False	0	False	16:72822080	0	T	72822080	C	T	72822080	2	4	88	1	0	0	0	0	0	0	0	1	17717	796	28	2		2	ZFHX3	16	72822080	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	666	72822080	17532673	15874	23586											
ZFHX3	463	broad.mit.edu	37	chr16	72822708	72822708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggaaggaacagttgtgCtgggcagacccatcaagttc	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822708C>T	ENST00000268489.5	-	10	10139	c.9467G>A	c.(9466-9468)aGc>aAc	p.S3156N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2242N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3156					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACAGTTGTGCTGGGCAGACC	0.562													False	0	False	16:72822708	0	T	72822708	C	T	72822708	3	4	88	1	0	0	0	0	1	0	0	0	17717	797	28	2	1648	2	ZFHX3	16	72822708	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	628	72822708	17532045	15875	23587											
ZFHX3	463	broad.mit.edu	37	chr16	72828120	72828120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggtcaaagtttagattaaCtgaggacatggaggggcttt	13	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72828120C>A	ENST00000268489.5	-	9	9133	c.8461G>T	c.(8461-8463)Gtt>Ttt	p.V2821F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V1907F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2821					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTAGATTAACTGAGGACATG	0.458													False	0	False	16:72828120	0	A	72828120	C	A	72828120	3	1	88	1	0	0	0	0	1	0	0	0	17717	565	20	3	2658	3	ZFHX3	16	72828120	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5412	72828120	17526633	15876	23588											
ZFHX3	463	broad.mit.edu	37	chr16	72829446	72829446	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggggtactgcaggatgagcTggtaggcgtcaggatttcca	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72829446T>G	ENST00000268489.5	-	9	7807	c.7135A>C	c.(7135-7137)Agc>Cgc	p.S2379R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1465R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2379					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAGGATGAGCTGGTAGGCGTC	0.547													False	0	False	16:72829446	0	G	72829446	T	G	72829446	3	3	88	1	0	0	0	0	1	0	0	0	17717	1580	55	4	3984	4	ZFHX3	16	72829446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1326	72829446	17525307	15877	23589											
ZFHX3	463	broad.mit.edu	37	chr16	72829708	72829708	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctggccttctgtcgggcattCtgaaaccacaccactatcac	7	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72829708C>A	ENST00000268489.5	-	9	7545	c.6873G>T	c.(6871-6873)caG>caT	p.Q2291H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1377H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2291					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTCGGGCATTCTGAAACCACA	0.453													False	0	False	16:72829708	0	A	72829708	C	A	72829708	3	1	88	1	0	0	0	0	1	0	0	0	17717	912	32	3	4246	3	ZFHX3	16	72829708	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262	72829708	17525045	15878	23590											
ZFHX3	463	broad.mit.edu	37	chr16	72830247	72830247	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcgggggtagctgagCcggcaaggtctgcagcggca	18	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72830247C>A	ENST00000268489.5	-	9	7006	c.6334G>T	c.(6334-6336)Gct>Tct	p.A2112S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1198S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2112					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTAGCTGAGCCGGCAAGGTC	0.642													False	0	False	16:72830247	0	A	72830247	C	A	72830247	3	1	88	1	0	0	0	0	1	0	0	0	17717	739	26	3	4785	3	ZFHX3	16	72830247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	539	72830247	17524506	15879	23591											
ZFHX3	463	broad.mit.edu	37	chr16	72831208	72831208	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaggaggtgctgctgctgCtgtagttgcagcagggtctc	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72831208C>A	ENST00000268489.5	-	9	6045	c.5373G>T	c.(5371-5373)caG>caT	p.Q1791H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q877H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1791	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGCTGCTGCTGTAGTTGCA	0.572													False	0	True	16:72831208	0	A	72831208	C	A	72831208	3	1	88	1	0	0	0	0	1	0	0	0	17717	796	28	3	5746	3	ZFHX3	16	72831208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	961	72831208	17523545	15880	23592											
ZFHX3	463	broad.mit.edu	37	chr16	72992964	72992964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttaccataaaaactgtgtcCggggcctatgaggttagctg	11	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72992964C>T	ENST00000268489.5	-	2	1753	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	361					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAACTGTGTCCGGGGCCTATG	0.517													False	0	True	16:72992964	0	T	72992964	C	T	72992964	3	4	88	1	0	0	0	0	1	0	0	0	17717	661	23	1	10066	1	ZFHX3	16	72992964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161756	72992964	17361789	15881	23593											
GLG1	2734	broad.mit.edu	37	chr16	74524940	74524940	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggttccccttctcccctcGaactactttcatcagacagt	5	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74524940G>A	ENST00000422840.2	-	8	1407	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	GLG1_ENST00000205061.5_Nonsense_Mutation_p.R470*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.R459*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	470						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTCTCCCCTCGAACTACTTTC	0.493													False	0	False	16:74524940	0	A	74524940	G	A	74524940	4	1	88	1	0	0	0	0	0	1	0	0	6481	1066	37	1	2287	1	GLG1	16	74524940	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1531976	74524940	15829813	15882	23594											
RFWD3	55159	broad.mit.edu	37	chr16	74678318	74678318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggttcgggcataaaggaCgacaatgtcactgtgcctgg	14	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74678318C>T	ENST00000361070.4	-	6	1118	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	RFWD3_ENST00000571750.1_Missense_Mutation_p.V341I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	341					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCATAAAGGACGACAATGTCA	0.458													False	0	False	16:74678318	0	T	74678318	C	T	74678318	3	4	88	1	0	0	0	0	1	0	0	0	13340	536	19	1	1335	1	RFWD3	16	74678318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153378	74678318	15676435	15883	23595											
MLKL	197259	broad.mit.edu	37	chr16	74709292	74709292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcgatttcccagaggaCgattccaaagctaaaagaaa	10	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74709292C>T	ENST00000308807.7	-	9	1664	c.1201G>A	c.(1201-1203)Gtc>Atc	p.V401I	MLKL_ENST00000306247.7_Silent_p.S182S	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	401	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCCCAGAGGACGATTCCAAAG	0.483													False	0	False	16:74709292	0	T	74709292	C	T	74709292	3	4	88	1	0	0	0	0	1	0	0	0	9686	536	19	1	257	1	MLKL	16	74709292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30974	74709292	15645461	15884	23596											
ZNRF1	84937	broad.mit.edu	37	chr16	75138699	75138699	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagatgatgtgctgactaaaGacgcgggtgagtgtgtgatc	15	6	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75138699G>T	ENST00000335325.4	+	3	1180	c.538G>T	c.(538-540)Gac>Tac	p.D180Y	ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000567962.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000566250.1_Missense_Mutation_p.D180Y|ZNRF1_ENST00000320619.6_Missense_Mutation_p.D231Y	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	180						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						GCTGACTAAAGACGCGGGTGA	0.587													False	0	True	16:75138699	0	T	75138699	G	T	75138699	3	4	88	1	0	0	0	0	1	0	0	0	18293	942	33	3	548	3	ZNRF1	16	75138699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	429407	75138699	15216054	15885	23597											
BCAR1	9564	broad.mit.edu	37	chr16	75263526	75263526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgggtactgcaaggcagcGgccttggtggtggccacgat	17	9	0	0	rs144964852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75263526G>A	ENST00000546196.1	-	7	4061	c.2409C>T	c.(2407-2409)gcC>gcT	p.A803A	BCAR1_ENST00000418647.3_Silent_p.A878A|BCAR1_ENST00000535626.2_Silent_p.A684A|BCAR1_ENST00000420641.3_Silent_p.A850A|BCAR1_ENST00000542031.2_Silent_p.A830A|BCAR1_ENST00000538440.2_Silent_p.A832A|BCAR1_ENST00000162330.5_Silent_p.A832A|BCAR1_ENST00000393422.2_Silent_p.A850A|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393420.6_Silent_p.A850A			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	832					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCAAGGCAGCGGCCTTGGTGG	0.677													False	0	False	16:75263526	0	A	75263526	G	A	75263526	2	1	88	1	0	0	0	0	0	0	0	1	1352	1103	39	1		1	BCAR1	16	75263526	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	124827	75263526	15091227	15886	23598											
BCAR1	9564	broad.mit.edu	37	chr16	75267776	75267776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctggctcttgccctgccGcgtgatgctgcccttttcca	10	16	1	1	rs142603608		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75267776G>A	ENST00000546196.1	-	6	3633	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W	BCAR1_ENST00000418647.3_Missense_Mutation_p.R736W|BCAR1_ENST00000535626.2_Missense_Mutation_p.R542W|BCAR1_ENST00000420641.3_Missense_Mutation_p.R708W|BCAR1_ENST00000542031.2_Missense_Mutation_p.R688W|BCAR1_ENST00000538440.2_Missense_Mutation_p.R690W|BCAR1_ENST00000162330.5_Missense_Mutation_p.R690W|BCAR1_ENST00000393422.2_Missense_Mutation_p.R708W|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393420.6_Missense_Mutation_p.R708W			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	690					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGCCCTGCCGCGTGATGCTG	0.642													False	0	False	16:75267776	0	A	75267776	G	A	75267776	3	1	88	1	0	0	0	0	1	0	0	0	1352	1086	38	1	552	1	BCAR1	16	75267776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4250	75267776	15086977	15887	23599											
BCAR1	9564	broad.mit.edu	37	chr16	75276721	75276721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtactgggaggccggagGcgctggggcatggaggccag	21	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75276721G>A	ENST00000546196.1	-	2	1845	c.193C>T	c.(193-195)Cct>Tct	p.P65S	BCAR1_ENST00000418647.3_Missense_Mutation_p.P140S|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000420641.3_Missense_Mutation_p.P112S|BCAR1_ENST00000542031.2_Missense_Mutation_p.P92S|BCAR1_ENST00000538440.2_Missense_Mutation_p.P94S|BCAR1_ENST00000162330.5_Missense_Mutation_p.P94S|BCAR1_ENST00000393422.2_Missense_Mutation_p.P112S|BCAR1_ENST00000393420.6_Missense_Mutation_p.P94S			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	94	SH3.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGGCCGGAGGCGCTGGGGCA	0.677													False	0	False	16:75276721	0	A	75276721	G	A	75276721	3	1	88	1	0	0	0	0	1	0	0	0	1352	1203	42	2	2417	2	BCAR1	16	75276721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8945	75276721	15078032	15888	23600											
TMEM170A	124491	broad.mit.edu	37	chr16	75498407	75498407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagagttggggcacagggtcCcgttgcccacccgcggcaca	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75498407C>A	ENST00000357613.4	-	1	180	c.92G>T	c.(91-93)gGg>gTg	p.G31V	RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.G31V|RP11-77K12.1_ENST00000561887.1_5'UTR|TMEM170A_ENST00000566980.1_Intron|TMEM170A_ENST00000567796.1_Intron|TMEM170A_ENST00000561878.1_Missense_Mutation_p.G31V|TMEM170A_ENST00000569276.1_Missense_Mutation_p.G31V			Q8WVE7	T170A_HUMAN	transmembrane protein 170A	31						integral to membrane				endometrium(1)	1						GCACAGGGTCCCGTTGCCCAC	0.746													False	0	True	16:75498407	0	A	75498407	C	A	75498407	3	1	88	1	0	0	0	0	1	0	0	0	16168	623	22	3	354	3	TMEM170A	16	75498407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221686	75498407	14856346	15889	23601											
CHST6	4166	broad.mit.edu	37	chr16	75512732	75512732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggcagcgcatggcgccagGcctgggagacgttgagcgca	18	11	0	2	rs144301922		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75512732G>T	ENST00000332272.4	-	3	1174	c.995C>A	c.(994-996)gCc>gAc	p.A332D	CHST6_ENST00000390664.2_Missense_Mutation_p.A332D|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	332					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATGGCGCCAGGCCTGGGAGAC	0.642													False	0	False	16:75512732	0	T	75512732	G	T	75512732	3	4	88	1	0	0	0	0	1	0	0	0	3431	1203	42	3	196	3	CHST6	16	75512732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14325	75512732	14842021	15890	23602											
CHST6	4166	broad.mit.edu	37	chr16	75513648	75513648	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggacgagggccctggccgggAaaccagaaagaggaggagga	19	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75513648A>T	ENST00000332272.4	-	3	258	c.79T>A	c.(79-81)Tcc>Acc	p.S27T	CHST6_ENST00000390664.2_Missense_Mutation_p.S27T|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	27					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTGGCCGGGAAACCAGAAAG	0.687													False	0	True	16:75513648	0	T	75513648	A	T	75513648	3	4	88	1	0	0	0	0	1	0	0	0	3431	246	9	5	1112	5	CHST6	16	75513648	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	916	75513648	14841105	15891	23603											
CHST5	23563	broad.mit.edu	37	chr16	75563056	75563056	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagagttctcagtcaggCgatgcccagctgaagtggtc	13	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75563056C>T	ENST00000336257.3	-	3	2621	c.1227G>A	c.(1225-1227)tcG>tcA	p.S409S	CHST5_ENST00000541075.1_Silent_p.S415S|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	409					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CTCAGTCAGGCGATGCCCAGC	0.657													False	0	False	16:75563056	0	T	75563056	C	T	75563056	2	4	88	1	0	0	0	0	0	0	0	1	3430	755	27	1		1	CHST5	16	75563056	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49408	75563056	14791697	15892	23604											
CHST5	23563	broad.mit.edu	37	chr16	75563625	75563625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtcgcgcaccaggtgcaCgatgcgcaggttgagcgcgg	18	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75563625C>T	ENST00000336257.3	-	3	2052	c.658G>A	c.(658-660)Gtg>Atg	p.V220M	CHST5_ENST00000541075.1_Missense_Mutation_p.V226M|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	220					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ACCAGGTGCACGATGCGCAGG	0.697													False	0	False	16:75563625	0	T	75563625	C	T	75563625	3	4	88	1	0	0	0	0	1	0	0	0	3430	536	19	1	581	1	CHST5	16	75563625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	569	75563625	14791128	15893	23605											
GABARAPL2	11345	broad.mit.edu	37	chr16	75600792	75600792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagattcgagcgaaatatcCcgacagggttccggtgagtg	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75600792C>T	ENST00000037243.2	+	2	213	c.77C>T	c.(76-78)cCc>cTc	p.P26L	RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000568455.1_5'UTR|GABARAPL2_ENST00000563744.1_Missense_Mutation_p.P26L|GABARAPL2_ENST00000565057.1_Missense_Mutation_p.P26L	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2	26					autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport	autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction	ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding			lung(1)|ovary(1)	2						GCGAAATATCCCGACAGGGTT	0.627													False	0	True	16:75600792	0	T	75600792	C	T	75600792	3	4	88	1	0	0	0	0	1	0	0	0	6196	623	22	2	83	2	GABARAPL2	16	75600792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37167	75600792	14753961	15894	23606											
ADAT1	23536	broad.mit.edu	37	chr16	75642133	75642133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctgtaccttgcctgaagGcttccaattgttttctttgt	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75642133G>A	ENST00000307921.3	-	9	1423	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	426	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						TTGCCTGAAGGCTTCCAATTG	0.443													False	0	False	16:75642133	0	A	75642133	G	A	75642133	2	1	88	1	0	0	0	0	0	0	0	1	284	1194	42	2		2	ADAT1	16	75642133	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41341	75642133	14712620	15895	23607											
KARS	3735	broad.mit.edu	37	chr16	75663366	75663366	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgggatcattcagctcagTatacgcattgcatatctctt	7	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75663366T>C	ENST00000319410.5	-	13	1703	c.1582A>G	c.(1582-1584)Act>Gct	p.T528A	KARS_ENST00000302445.3_Missense_Mutation_p.T500A|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	500					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TTCAGCTCAGTATACGCATTG	0.517													False	0	False	16:75663366	0	C	75663366	T	C	75663366	3	2	88	1	0	0	0	0	1	0	0	0	8030	1638	57	4	307	4	KARS	16	75663366	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	21233	75663366	14691387	15896	23608											
TERF2IP	54386	broad.mit.edu	37	chr16	75690139	75690139	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgattttgaaatacataTaactatgtgtgatgatgatc	7	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75690139T>C	ENST00000300086.4	+	3	927	c.830T>C	c.(829-831)aTa>aCa	p.I277T		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	277	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						GAAATACATATAACTATGTGT	0.413													False	0	False	16:75690139	0	C	75690139	T	C	75690139	3	2	88	1	0	0	0	0	1	0	0	0	15845	1406	49	4	840	4	TERF2IP	16	75690139	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26773	75690139	14664614	15897	23609											
CNTNAP4	85445	broad.mit.edu	37	chr16	76389355	76389355	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagctacctcctgatgTtcagtgatagtggctggaac	11	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76389355T>G	ENST00000307431.8	+	4	719	c.334T>G	c.(334-336)Ttc>Gtc	p.F112V	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.F88V|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.F116V|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.F112V|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	113	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCTCCTGATGTTCAGTGATAG	0.483													False	0	False	16:76389355	0	G	76389355	T	G	76389355	3	3	88	1	0	0	0	0	1	0	0	0	3672	1725	60	4	360	4	CNTNAP4	16	76389355	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	699216	76389355	13965398	15898	23610											
CNTNAP4	85445	broad.mit.edu	37	chr16	76483753	76483753	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaccacagatcattgctAtggtgagagtctttatgcga	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76483753A>T	ENST00000307431.8	+	8	1451	c.1066A>T	c.(1066-1068)Atg>Ttg	p.M356L	CNTNAP4_ENST00000478060.1_Intron|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.M360L|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	357	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GATCATTGCTATGGTGAGAGT	0.338													False	0	False	16:76483753	0	T	76483753	A	T	76483753	3	4	88	1	0	0	0	0	1	0	0	0	3672	449	16	5	1108	5	CNTNAP4	16	76483753	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	94398	76483753	13871000	15899	23611											
CNTNAP4	85445	broad.mit.edu	37	chr16	76569448	76569448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttcccttttaggtggaaCggccaccagacagagaggct	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76569448C>T	ENST00000307431.8	+	19	3144	c.2759C>T	c.(2758-2760)aCg>aTg	p.T920M	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T848M|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.T924M|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.T872M|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	921	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTAGGTGGAACGGCCACCAGA	0.478													False	0	False	16:76569448	0	T	76569448	C	T	76569448	3	4	88	1	0	0	0	0	1	0	0	0	3672	536	19	1	2845	1	CNTNAP4	16	76569448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85695	76569448	13785305	15900	23612											
CNTNAP4	85445	broad.mit.edu	37	chr16	76592577	76592577	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcagaaagagtacttcttCtgattggcagctatgattta	8	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76592577C>T	ENST00000307431.8	+	25	4306	c.3921C>T	c.(3919-3921)ttC>ttT	p.F1307F	CNTNAP4_ENST00000478060.1_Silent_p.F1235F|CNTNAP4_ENST00000476707.1_Silent_p.F1311F|CNTNAP4_ENST00000377504.4_Silent_p.F1259F|CNTNAP4_ENST00000469589.1_3'UTR|RP11-58C22.1_ENST00000563764.1_Intron	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1308					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGTACTTCTTCTGATTGGCAG	0.363													False	0	False	16:76592577	0	T	76592577	C	T	76592577	2	4	88	1	0	0	0	0	0	0	0	1	3672	912	32	2		2	CNTNAP4	16	76592577	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23129	76592577	13762176	15901	23613											
MON1B	22879	broad.mit.edu	37	chr16	77228783	77228783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacgcctacgtggcccgcCtggatgctatgcctgtctgc	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77228783C>T	ENST00000248248.3	+	4	1377	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	MON1B_ENST00000439557.2_Silent_p.L234L|MON1B_ENST00000545553.1_Silent_p.L197L|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	343							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CGTGGCCCGCCTGGATGCTAT	0.637													False	0	False	16:77228783	0	T	77228783	C	T	77228783	2	4	88	1	0	0	0	0	0	0	0	1	9766	680	24	2		2	MON1B	16	77228783	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	636206	77228783	13125970	15902	23614											
MON1B	22879	broad.mit.edu	37	chr16	77228807	77228807	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgctatgcctgtctgcctgCtgctgcttggcacccaacgt	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77228807C>A	ENST00000248248.3	+	4	1401	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	MON1B_ENST00000439557.2_Missense_Mutation_p.L242M|MON1B_ENST00000545553.1_Missense_Mutation_p.L205M|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	351							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TGTCTGCCTGCTGCTGCTTGG	0.637													False	0	True	16:77228807	0	A	77228807	C	A	77228807	3	1	88	1	0	0	0	0	1	0	0	0	9766	796	28	3	1061	3	MON1B	16	77228807	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24	77228807	13125946	15903	23615											
ADAMTS18	170692	broad.mit.edu	37	chr16	77323306	77323306	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcccccacaggtgactgtGcactgcagcagagagaagag	12	13	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77323306G>A	ENST00000282849.5	-	22	3823	c.3405C>T	c.(3403-3405)tgC>tgT	p.C1135C	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1135	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGGTGACTGTGCACTGCAGCA	0.532													False	0	False	16:77323306	0	A	77323306	G	A	77323306	2	1	88	1	0	0	0	0	0	0	0	1	263	1311	46	2		2	ADAMTS18	16	77323306	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94499	77323306	13031447	15904	23616											
ADAMTS18	170692	broad.mit.edu	37	chr16	77328833	77328833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgttacctgagaccagggtCcaaggctccattgtggaggg	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77328833C>T	ENST00000282849.5	-	19	3411	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	998	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGACCAGGGTCCAAGGCTCCA	0.537													False	0	False	16:77328833	0	T	77328833	C	T	77328833	3	4	88	1	0	0	0	0	1	0	0	0	263	855	30	2	692	2	ADAMTS18	16	77328833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5527	77328833	13025920	15905	23617											
ADAMTS18	170692	broad.mit.edu	37	chr16	77389909	77389909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtttccggtcagtgtgGgagacatgatattgccttca	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77389909G>A	ENST00000282849.5	-	9	1806	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	463	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGTCAGTGTGGGAGACATGAT	0.458													False	0	True	16:77389909	0	A	77389909	G	A	77389909	3	1	88	1	0	0	0	0	1	0	0	0	263	1232	43	2	2337	2	ADAMTS18	16	77389909	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61076	77389909	12964844	15906	23618											
ADAMTS18	170692	broad.mit.edu	37	chr16	77398216	77398216	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagctgatcttctgggtcGcccagagctcccatattcat	8	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77398216G>A	ENST00000282849.5	-	5	1259	c.841C>T	c.(841-843)Cga>Tga	p.R281*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	281					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTCTGGGTCGCCCAGAGCTC	0.478													False	0	True	16:77398216	0	A	77398216	G	A	77398216	4	1	88	1	0	0	0	0	0	1	0	0	263	1095	38	1	2900	1	ADAMTS18	16	77398216	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8307	77398216	12956537	15907	23619											
ADAMTS18	170692	broad.mit.edu	37	chr16	77401620	77401620	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtccttattaaacctgActaaaaagccaaacacaaag	5	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77401620A>C	ENST00000282849.5	-	4	914	c.496T>G	c.(496-498)Tca>Gca	p.S166A	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	166					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTAAACCTGACTAAAAAGCC	0.468													False	0	False	16:77401620	0	C	77401620	A	C	77401620	5	2	88	1	0	0	0	0	0	0	1	0	263	289	10	4	3249	4	ADAMTS18	16	77401620	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3404	77401620	12953133	15908	23620											
VAT1L	57687	broad.mit.edu	37	chr16	77850827	77850827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctttacagtggattaaaCttcattgacttgatggtgcg	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77850827C>T	ENST00000302536.2	+	2	396	c.243C>T	c.(241-243)aaC>aaT	p.N81N		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	81							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GTGGATTAAACTTCATTGACT	0.428													False	0	True	16:77850827	0	T	77850827	C	T	77850827	2	4	88	1	0	0	0	0	0	0	0	1	17214	564	20	2		2	VAT1L	16	77850827	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	449207	77850827	12503926	15909	23621											
WWOX	51741	broad.mit.edu	37	chr16	78149014	78149014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggccgggatttcactggCaaagtggttgtggtcactgg	16	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:78149014C>T	ENST00000566780.1	+	4	738	c.372C>T	c.(370-372)ggC>ggT	p.G124G	WWOX_ENST00000355860.3_Silent_p.G124G|WWOX_ENST00000408984.3_Silent_p.G124G|WWOX_ENST00000406884.2_Silent_p.G124G|WWOX_ENST00000402655.2_Silent_p.G124G|WWOX_ENST00000539474.2_Silent_p.G124G	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	124					apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATTTCACTGGCAAAGTGGTTG	0.478													False	0	True	16:78149014	0	T	78149014	C	T	78149014	2	4	88	1	0	0	0	0	0	0	0	1	17498	697	25	2		2	WWOX	16	78149014	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	298187	78149014	12205739	15910	23622											
MAF	4094	broad.mit.edu	37	chr16	79633438	79633438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgccctggagctggtggCtgttgctgatgagcgcctcg	16	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633438C>T	ENST00000393350.1	-	1	1173	c.362G>A	c.(361-363)aGc>aAc	p.S121N	MAF_ENST00000569649.1_Missense_Mutation_p.S121N|MAF_ENST00000326043.4_Missense_Mutation_p.S121N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	121					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GAGCTGGTGGCTGTTGCTGAT	0.736			T	IGH@	MM								False	0	False	16:79633438	0	T	79633438	C	T	79633438	3	4	88	1	0	0	0	0	1	0	0	0	9218	797	28	2	861	2	MAF	16	79633438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1484424	79633438	10721315	15911	23623											
MAF	4094	broad.mit.edu	37	chr16	79633606	79633606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggaagggggcaccgagCtgcacggcgtgctcatgggg	21	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633606C>T	ENST00000393350.1	-	1	1005	c.194G>A	c.(193-195)aGc>aAc	p.S65N	MAF_ENST00000569649.1_Missense_Mutation_p.S65N|MAF_ENST00000326043.4_Missense_Mutation_p.S65N	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	65					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GGGCACCGAGCTGCACGGCGT	0.682			T	IGH@	MM								False	0	False	16:79633606	0	T	79633606	C	T	79633606	3	4	88	1	0	0	0	0	1	0	0	0	9218	797	28	2	1029	2	MAF	16	79633606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	79633606	10721147	15912	23624											
CDYL2	124359	broad.mit.edu	37	chr16	80718665	80718665	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccgtcttggtggccctgTcacctcctgaagagggcttg	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718665T>C	ENST00000570137.2	-	2	541	c.386A>G	c.(385-387)gAc>gGc	p.D129G	CDYL2_ENST00000562812.1_Missense_Mutation_p.D129G|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.D129G|CDYL2_ENST00000563890.1_Missense_Mutation_p.D129G	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGTGGCCCTGTCACCTCCTGA	0.542													False	0	False	16:80718665	0	C	80718665	T	C	80718665	3	2	88	1	0	0	0	0	1	0	0	0	3209	1667	58	4	1158	4	CDYL2	16	80718665	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1085059	80718665	9636088	15913	23625											
CDYL2	124359	broad.mit.edu	37	chr16	80718807	80718807	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctcaaccgacgggcctcGactgtcacgcagcagcttgg	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718807G>A	ENST00000570137.2	-	2	399	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CDYL2_ENST00000562812.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Nonsense_Mutation_p.R82*|CDYL2_ENST00000563890.1_Nonsense_Mutation_p.R82*	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GACGGGCCTCGACTGTCACGC	0.522													False	0	False	16:80718807	0	A	80718807	G	A	80718807	4	1	88	1	0	0	0	0	0	1	0	0	3209	1066	37	1	1300	1	CDYL2	16	80718807	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142	80718807	9635946	15914	23626											
ATMIN	23300	broad.mit.edu	37	chr16	81077122	81077122	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagggctctgccacaggggCtgtgcacttaatgcccttgt	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81077122C>A	ENST00000566488.1	+	3	1514	c.551C>A	c.(550-552)gCt>gAt	p.A184D	ATMIN_ENST00000564241.1_Missense_Mutation_p.A184D|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Missense_Mutation_p.A340D			O43313	ATMIN_HUMAN	ATM interactor	340					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GCCACAGGGGCTGTGCACTTA	0.522													False	0	True	16:81077122	0	A	81077122	C	A	81077122	3	1	88	1	0	0	0	0	1	0	0	0	1114	797	28	3	1033	3	ATMIN	16	81077122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	358315	81077122	9277631	15915	23627											
ATMIN	23300	broad.mit.edu	37	chr16	81078026	81078026	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gattttgatatcgaagagttCttttcggcctcaaatatcca	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81078026C>A	ENST00000566488.1	+	3	2418	c.1455C>A	c.(1453-1455)ttC>ttA	p.F485L	ATMIN_ENST00000564241.1_Missense_Mutation_p.F485L|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Missense_Mutation_p.F641L			O43313	ATMIN_HUMAN	ATM interactor	641					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCGAAGAGTTCTTTTCGGCCT	0.493													False	0	True	16:81078026	0	A	81078026	C	A	81078026	3	1	88	1	0	0	0	0	1	0	0	0	1114	912	32	3	1937	3	ATMIN	16	81078026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	904	81078026	9276727	15916	23628											
C16orf46	123775	broad.mit.edu	37	chr16	81097352	81097352	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcagaaagatactcactGcctcttcccatccagttcca	5	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81097352G>A	ENST00000378611.4	-	2	324	c.209C>T	c.(208-210)gCa>gTa	p.A70V	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_Intron|C16orf46_ENST00000299578.5_Splice_Site_p.A70V	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	70										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GATACTCACTGCCTCTTCCCA	0.368													False	0	False	16:81097352	0	A	81097352	G	A	81097352	5	1	88	1	0	0	0	0	0	0	1	0	1825	1333	46	2	1014	2	C16orf46	16	81097352	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19326	81097352	9257401	15917	23629											
PKD1L2	114780	broad.mit.edu	37	chr16	81164153	81164153	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacacctgaaaagcccctgGtgaagctgtgctggaggtgt	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81164153G>A	ENST00000534142.1	-	0	342				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAAGCCCCTGGTGAAGCTGTG	0.592													False	0	False	16:81164153	0	A	81164153	G	A	81164153	1	1	88	0	1	0	0	0	0	0	0	0	12034	1261	44	2		2	PKD1L2	16	81164153	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66801	81164153	9190600	15918	23630											
PKD1L2	114780	broad.mit.edu	37	chr16	81181859	81181859	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctccttcgcgacccggggAcgggtgttctgaaagatctg	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81181859A>C	ENST00000533478.1	-	0	2912				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CGACCCGGGGACGGGTGTTCT	0.572													False	0	True	16:81181859	0	C	81181859	A	C	81181859	1	2	88	0	1	0	0	0	0	0	0	0	12034	262	10	4		4	PKD1L2	16	81181859	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17706	81181859	9172894	15919	23631											
PKD1L2	114780	broad.mit.edu	37	chr16	81183400	81183400	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaggacaccctctggaCgcgggtgaagctgctgcgag	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81183400C>T	ENST00000533478.1	-	0	2703				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.V1550F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACCCTCTGGACGCGGGTGAAG	0.587													False	0	False	16:81183400	0	T	81183400	C	T	81183400	1	4	88	0	1	0	0	0	0	0	0	0	12034	536	19	1		1	PKD1L2	16	81183400	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1541	81183400	9171353	15920	23632											
PKD1L2	114780	broad.mit.edu	37	chr16	81198334	81198334	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggttgcagagtctgcggcaTcagggcgcagggaggagcct	18	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81198334T>G	ENST00000533478.1	-	0	1315				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTCTGCGGCATCAGGGCGCAG	0.597													False	0	False	16:81198334	0	G	81198334	T	G	81198334	1	3	88	0	1	0	0	0	0	0	0	0	12034	1435	50	4		4	PKD1L2	16	81198334	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	14934	81198334	9156419	15921	23633											
PKD1L2	114780	broad.mit.edu	37	chr16	81248637	81248637	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctcctccttgacgttgGcccagctgcatccctgctcc	7	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81248637G>A	ENST00000337114.4	-	0	625				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTTGACGTTGGCCCAGCTGCA	0.627											OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	16:81248637	0	A	81248637	G	A	81248637	1	1	88	0	1	0	0	0	0	0	0	0	12034	1203	42	2		2	PKD1L2	16	81248637	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50303	81248637	9106116	15922	23634											
BCMO1	53630	broad.mit.edu	37	chr16	81298250	81298250	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatatcttgcaggttgaTtatcgtaaatacgtggcggt	11	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81298250T>G	ENST00000258168.2	+	5	938	c.477T>G	c.(475-477)gaT>gaG	p.D159E	BCMO1_ENST00000425577.2_Missense_Mutation_p.D90E	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	159					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGCAGGTTGATTATCGTAAAT	0.398													False	0	False	16:81298250	0	G	81298250	T	G	81298250	3	3	88	1	0	0	0	0	1	0	0	0	1388	1490	52	4	495	4	BCMO1	16	81298250	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49613	81298250	9056503	15923	23635											
BCMO1	53630	broad.mit.edu	37	chr16	81303878	81303878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaagaggacggctgcatcGtgtttgacgtcattgcctac	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81303878G>A	ENST00000258168.2	+	7	1419	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	BCMO1_ENST00000425577.2_Missense_Mutation_p.V251M	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	320					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	p.V320M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CGGCTGCATCGTGTTTGACGT	0.552													False	0	False	16:81303878	0	A	81303878	G	A	81303878	3	1	88	1	0	0	0	0	1	0	0	0	1388	1145	40	1	984	1	BCMO1	16	81303878	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5628	81303878	9050875	15924	23636											
GAN	8139	broad.mit.edu	37	chr16	81385228	81385228	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaaagatgatggatcaActtataagattgaacttgaa	7	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81385228A>G	ENST00000568107.2	+	2	370	c.208A>G	c.(208-210)Act>Gct	p.T70A		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin		BTB.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TGATGGATCAACTTATAAGAT	0.328													False	0	False	16:81385228	0	G	81385228	A	G	81385228	3	3	88	1	0	0	0	0	1	0	0	0	6275	43	2	4	214	4	GAN	16	81385228	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	81350	81385228	8969525	15925	23637											
GAN	8139	broad.mit.edu	37	chr16	81391435	81391435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacggaaacccacagcagCgatgcgatgcatgtgccctc	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81391435C>T	ENST00000568107.2	+	5	1034	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin						cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCCACAGCAGCGATGCGATGC	0.433													False	0	True	16:81391435	0	T	81391435	C	T	81391435	3	4	88	1	0	0	0	0	1	0	0	0	6275	768	27	1	890	1	GAN	16	81391435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6207	81391435	8963318	15926	23638											
GAN	8139	broad.mit.edu	37	chr16	81399055	81399055	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgagatggtaacttgcaagTccgagttctaccatgatgag	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81399055T>C	ENST00000568107.2	+	9	1636	c.1474T>C	c.(1474-1476)Tcc>Ccc	p.S492P	GAN_ENST00000567335.1_3'UTR	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin						cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AACTTGCAAGTCCGAGTTCTA	0.458													False	0	False	16:81399055	0	C	81399055	T	C	81399055	3	2	88	1	0	0	0	0	1	0	0	0	6275	1667	58	4	1508	4	GAN	16	81399055	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7620	81399055	8955698	15927	23639											
CMIP	80790	broad.mit.edu	37	chr16	81685954	81685954	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccccactggaaatcgtctcGaaactgctctcagaggtaaa	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81685954G>A	ENST00000537098.3	+	4	696	c.624G>A	c.(622-624)tcG>tcA	p.S208S	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.S55S|CMIP_ENST00000539778.2_Silent_p.S114S	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	174						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						AAATCGTCTCGAAACTGCTCT	0.582													False	0	True	16:81685954	0	A	81685954	G	A	81685954	2	1	88	1	0	0	0	0	0	0	0	1	3601	1045	37	1		1	CMIP	16	81685954	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	286899	81685954	8668799	15928	23640											
CMIP	80790	broad.mit.edu	37	chr16	81703810	81703810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatccttgccttgaacgagCtcaacgcggggatggaagtg	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81703810C>T	ENST00000537098.3	+	8	961	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.L144F|CMIP_ENST00000539778.2_Missense_Mutation_p.L203F	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	263						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CTTGAACGAGCTCAACGCGGG	0.587													False	0	False	16:81703810	0	T	81703810	C	T	81703810	3	4	88	1	0	0	0	0	1	0	0	0	3601	797	28	2	941	2	CMIP	16	81703810	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17856	81703810	8650943	15929	23641											
CMIP	80790	broad.mit.edu	37	chr16	81739151	81739151	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcggaacacctcaccatgctCcaggtgctgaacctgtgcga	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81739151C>T	ENST00000537098.3	+	19	2211	c.2139C>T	c.(2137-2139)ctC>ctT	p.L713L	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.L560L|CMIP_ENST00000539778.2_Silent_p.L619L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	679						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						TCACCATGCTCCAGGTGCTGA	0.652													False	0	False	16:81739151	0	T	81739151	C	T	81739151	2	4	88	1	0	0	0	0	0	0	0	1	3601	842	30	2		2	CMIP	16	81739151	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35341	81739151	8615602	15930	23642											
PLCG2	5336	broad.mit.edu	37	chr16	81939093	81939093	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaacagggggagctgtacaTgtgggattccattgaccagg	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81939093T>C	ENST00000359376.3	+	15	1662	c.1448T>C	c.(1447-1449)aTg>aCg	p.M483T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	483					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAGCTGTACATGTGGGATTCC	0.587													False	0	False	16:81939093	0	C	81939093	T	C	81939093	3	2	88	1	0	0	0	0	1	0	0	0	12105	1464	51	4	1502	4	PLCG2	16	81939093	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	199942	81939093	8415660	15931	23643											
PLCG2	5336	broad.mit.edu	37	chr16	81942147	81942147	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggcaaggatggcaccttcCtggttcgggagagcgagacc	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81942147C>A	ENST00000359376.3	+	17	1898	c.1684C>A	c.(1684-1686)Ctg>Atg	p.L562M		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	562	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGGCACCTTCCTGGTTCGGGA	0.572													False	0	False	16:81942147	0	A	81942147	C	A	81942147	3	1	88	1	0	0	0	0	1	0	0	0	12105	680	24	3	1746	3	PLCG2	16	81942147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3054	81942147	8412606	15932	23644											
PLCG2	5336	broad.mit.edu	37	chr16	81944315	81944315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcccaaccccaacccccacGagtccaagccgtacgtgtct	7	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81944315G>A	ENST00000359376.3	+	18	2138	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	642					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAACCCCCACGAGTCCAAGCC	0.667													False	0	False	16:81944315	0	A	81944315	G	A	81944315	3	1	88	1	0	0	0	0	1	0	0	0	12105	1059	37	1	1990	1	PLCG2	16	81944315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2168	81944315	8410438	15933	23645											
PLCG2	5336	broad.mit.edu	37	chr16	81969845	81969845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcatcagacagaagcccGtcgacctcctgaagtacaat	8	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81969845G>A	ENST00000359376.3	+	27	3128	c.2914G>A	c.(2914-2916)Gtc>Atc	p.V972I		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	972	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACAGAAGCCCGTCGACCTCCT	0.517													False	0	True	16:81969845	0	A	81969845	G	A	81969845	3	1	88	1	0	0	0	0	1	0	0	0	12105	1145	40	1	3016	1	PLCG2	16	81969845	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25530	81969845	8384908	15934	23646											
PLCG2	5336	broad.mit.edu	37	chr16	81972512	81972512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaacaagttcaagacgaCggttgtgagtaagtcagtca	10	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81972512C>T	ENST00000359376.3	+	29	3519	c.3305C>T	c.(3304-3306)aCg>aTg	p.T1102M		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1102	C2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCAAGACGACGGTTGTGAGT	0.512													False	0	False	16:81972512	0	T	81972512	C	T	81972512	3	4	88	1	0	0	0	0	1	0	0	0	12105	536	19	1	3415	1	PLCG2	16	81972512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2667	81972512	8382241	15935	23647											
PLCG2	5336	broad.mit.edu	37	chr16	81979814	81979814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctgaagaatgggtacagCgaggacatagagctggcttc	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81979814C>T	ENST00000359376.3	+	31	3730	c.3516C>T	c.(3514-3516)agC>agT	p.S1172S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1172					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGGGTACAGCGAGGACATAG	0.488													False	0	False	16:81979814	0	T	81979814	C	T	81979814	2	4	88	1	0	0	0	0	0	0	0	1	12105	767	27	1		1	PLCG2	16	81979814	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7302	81979814	8374939	15936	23648											
HSD17B2	3294	broad.mit.edu	37	chr16	82069166	82069166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctggcaggcctctgtgCagtctgcctgctcatcctgt	11	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:82069166C>T	ENST00000199936.4	+	1	330	c.137C>T	c.(136-138)gCa>gTa	p.A46V		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	46					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GGCCTCTGTGCAGTCTGCCTG	0.512													False	0	False	16:82069166	0	T	82069166	C	T	82069166	3	4	88	1	0	0	0	0	1	0	0	0	7431	710	25	2	139	2	HSD17B2	16	82069166	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89352	82069166	8285587	15937	23649											
HSD17B2	3294	broad.mit.edu	37	chr16	82131894	82131894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccttttgcctattacacGccagggaaaggcgcttactt	9	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:82131894G>A	ENST00000199936.4	+	5	1210	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	339					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CCTATTACACGCCAGGGAAAG	0.483													False	0	False	16:82131894	0	A	82131894	G	A	82131894	2	1	88	1	0	0	0	0	0	0	0	1	7431	1074	38	1		1	HSD17B2	16	82131894	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62728	82131894	8222859	15938	23650											
CDH13	1012	broad.mit.edu	37	chr16	83378596	83378596	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctacatcggccacgtcatgGaagggtcacccacaggtatg	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83378596G>T	ENST00000566620.1	+	6	1056	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Nonsense_Mutation_p.E217*|CDH13_ENST00000268613.10_Nonsense_Mutation_p.E303*	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	256	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCACGTCATGGAAGGGTCACC	0.507													False	0	False	16:83378596	0	T	83378596	G	T	83378596	4	4	88	1	0	0	0	0	0	1	0	0	3122	1175	41	3	788	3	CDH13	16	83378596	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1246702	83378596	6976157	15939	23651											
CDH13	1012	broad.mit.edu	37	chr16	83704532	83704532	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgggcagagctttgaaatCcacaccaaccctcaaaccaa	6	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83704532C>T	ENST00000566620.1	+	9	1529	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	CDH13_ENST00000428848.3_Silent_p.I374I|CDH13_ENST00000268613.10_Silent_p.I460I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	413	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GCTTTGAAATCCACACCAACC	0.517													False	0	False	16:83704532	0	T	83704532	C	T	83704532	2	4	88	1	0	0	0	0	0	0	0	1	3122	845	30	2		2	CDH13	16	83704532	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325936	83704532	6650221	15940	23652											
OSGIN1	29948	broad.mit.edu	37	chr16	83992884	83992884	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtaacggcccctctggtatCtgcctgtcctacctgctctc	9	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83992884C>A	ENST00000343939.2	+	4	719	c.336C>A	c.(334-336)atC>atA	p.I112I	OSGIN1_ENST00000565123.1_Silent_p.I29I|OSGIN1_ENST00000393306.1_Silent_p.I29I|OSGIN1_ENST00000361711.3_Silent_p.I29I			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	112					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CCTCTGGTATCTGCCTGTCCT	0.622													False	0	False	16:83992884	0	A	83992884	C	A	83992884	2	1	88	1	0	0	0	0	0	0	0	1	11357	903	32	3		3	OSGIN1	16	83992884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	288352	83992884	6361869	15941	23653											
OSGIN1	29948	broad.mit.edu	37	chr16	83994650	83994650	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcccggacctggaggTcaaggactggatgcagaaga	17	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83994650T>G	ENST00000343939.2	+	6	1093	c.710T>G	c.(709-711)gTc>gGc	p.V237G	OSGIN1_ENST00000565123.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000393306.1_Missense_Mutation_p.V154G|OSGIN1_ENST00000361711.3_Missense_Mutation_p.V154G			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	237					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GACCTGGAGGTCAAGGACTGG	0.612													False	0	False	16:83994650	0	G	83994650	T	G	83994650	3	3	88	1	0	0	0	0	1	0	0	0	11357	1667	58	4	732	4	OSGIN1	16	83994650	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1766	83994650	6360103	15942	23654											
OSGIN1	29948	broad.mit.edu	37	chr16	83999313	83999313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgccaggccgtgttccagGacctcgagggtgtcgagaag	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83999313G>A	ENST00000343939.2	+	7	1767	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	OSGIN1_ENST00000393306.1_Missense_Mutation_p.D379N|OSGIN1_ENST00000361711.3_Missense_Mutation_p.D379N			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	462					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CGTGTTCCAGGACCTCGAGGG	0.647													False	0	False	16:83999313	0	A	83999313	G	A	83999313	3	1	88	1	0	0	0	0	1	0	0	0	11357	1174	41	2	1410	2	OSGIN1	16	83999313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4663	83999313	6355440	15943	23655											
SLC38A8	146167	broad.mit.edu	37	chr16	84050168	84050168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactgatgcctccgatgatgCtgacgatctcgctgaggtca	11	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84050168C>T	ENST00000299709.3	-	8	1117	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	373					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCGATGATGCTGACGATCTC	0.587													False	0	False	16:84050168	0	T	84050168	C	T	84050168	3	4	88	1	0	0	0	0	1	0	0	0	14690	797	28	2	201	2	SLC38A8	16	84050168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50855	84050168	6304585	15944	23656											
SLC38A8	146167	broad.mit.edu	37	chr16	84056428	84056428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaggacagcacagacaCcagggcccagtgggagaggc	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056428C>T	ENST00000299709.3	-	6	756	c.757G>A	c.(757-759)Gtg>Atg	p.V253M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	253					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGCACAGACACCAGGGCCCAG	0.607													False	0	False	16:84056428	0	T	84056428	C	T	84056428	3	4	88	1	0	0	0	0	1	0	0	0	14690	507	18	2	570	2	SLC38A8	16	84056428	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6260	84056428	6298325	15945	23657											
SLC38A8	146167	broad.mit.edu	37	chr16	84056464	84056464	+	Missense_Mutation	SNP	T	T	C													gaggctccgtttgcgcatgcTgcagtagatggagacggcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056464T>C	ENST00000299709.3	-	6	720	c.721A>G	c.(721-723)Agc>Ggc	p.S241G		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	241					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TTGCGCATGCTGCAGTAGATG	0.582													False	0	False	16:84056464	0	C	84056464	T	C	84056464	3	2	88	1	0	0	0	0	1	0	0	0	14690	1580	55	4	606	4	SLC38A8	16	84056464	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	36	84056464	6298289	15946	23658	252	3									
SLC38A8	146167	broad.mit.edu	37	chr16	84056473	84056473	+	Missense_Mutation	SNP	T	T	C													tttgcgcatgctgcagtagaTggagacggcagcttcgtgac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056473T>C	ENST00000299709.3	-	6	711	c.712A>G	c.(712-714)Atc>Gtc	p.I238V		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	238					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGCAGTAGATGGAGACGGCA	0.567													False	0	False	16:84056473	0	C	84056473	T	C	84056473	3	2	88	1	0	0	0	0	1	0	0	0	14690	1464	51	4	615	4	SLC38A8	16	84056473	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9	84056473	6298280	15947	23659	252	3									
SLC38A8	146167	broad.mit.edu	37	chr16	84056480	84056480	+	Silent	SNP	G	G	A													atgctgcagtagatggagacGgcagcttcgtgacactgtaa					rs146922664		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056480G>A	ENST00000299709.3	-	6	704	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	235					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGATGGAGACGGCAGCTTCGT	0.572													False	0	False	16:84056480	0	A	84056480	G	A	84056480	2	1	88	1	0	0	0	0	0	0	0	1	14690	1103	39	1		1	SLC38A8	16	84056480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	84056480	6298273	15948	23660	252	3									
MBTPS1	8720	broad.mit.edu	37	chr16	84104310	84104310	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtagcccgaccaaggccaTaagaccgaggagtaggagaa	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84104310T>C	ENST00000343411.3	-	13	2160	c.1665A>G	c.(1663-1665)ttA>ttG	p.L555L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	555					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACCAAGGCCATAAGACCGAGG	0.522													False	0	False	16:84104310	0	C	84104310	T	C	84104310	2	2	88	1	0	0	0	0	0	0	0	1	9428	1403	49	4		4	MBTPS1	16	84104310	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47830	84104310	6250443	15949	23661											
MBTPS1	8720	broad.mit.edu	37	chr16	84115363	84115363	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactgaccttgcctgtggCttgtagctgttgaggatctg	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84115363C>T	ENST00000343411.3	-	11	1932	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	479					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTGCCTGTGGCTTGTAGCTGT	0.567													False	0	False	16:84115363	0	T	84115363	C	T	84115363	2	4	88	1	0	0	0	0	0	0	0	1	9428	796	28	2		2	MBTPS1	16	84115363	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11053	84115363	6239390	15950	23662											
MBTPS1	8720	broad.mit.edu	37	chr16	84129262	84129262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtctgggcaacctggcgCgggatggctctcagcagccg	16	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84129262C>T	ENST00000343411.3	-	4	1065	c.570G>A	c.(568-570)ccG>ccA	p.P190P		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	190					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAACCTGGCGCGGGATGGCTC	0.582													False	0	True	16:84129262	0	T	84129262	C	T	84129262	2	4	88	1	0	0	0	0	0	0	0	1	9428	755	27	1		1	MBTPS1	16	84129262	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13899	84129262	6225491	15951	23663											
MBTPS1	8720	broad.mit.edu	37	chr16	84132743	84132743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaagtgttagcagcccCgctttctgtttttcttttat	6	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84132743C>T	ENST00000343411.3	-	3	831	c.336G>A	c.(334-336)gcG>gcA	p.A112A		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	112					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTAGCAGCCCCGCTTTCTGTT	0.423													False	0	True	16:84132743	0	T	84132743	C	T	84132743	2	4	88	1	0	0	0	0	0	0	0	1	9428	639	23	1		1	MBTPS1	16	84132743	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3481	84132743	6222010	15952	23664											
MBTPS1	8720	broad.mit.edu	37	chr16	84132819	84132819	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggattgtttcgaggtataAttctccaattgtctacttca	7	7	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84132819A>C	ENST00000343411.3	-	3	755	c.260T>G	c.(259-261)aTt>aGt	p.I87S		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	87					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGAGGTATAATTCTCCAATT	0.378													False	0	False	16:84132819	0	C	84132819	A	C	84132819	3	2	88	1	0	0	0	0	1	0	0	0	9428	101	4	4	2982	4	MBTPS1	16	84132819	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	76	84132819	6221934	15953	23665											
TAF1C	9013	broad.mit.edu	37	chr16	84213008	84213008	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcccccaggcgctcactgaGcttgtcctctaggcctgact	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84213008G>T	ENST00000567759.1	-	14	2331	c.2149C>A	c.(2149-2151)Ctc>Atc	p.L717I	TAF1C_ENST00000341690.6_Missense_Mutation_p.L623I|TAF1C_ENST00000566732.1_Missense_Mutation_p.L691I|TAF1C_ENST00000541676.1_Missense_Mutation_p.L624I|TAF1C_ENST00000378541.4_Missense_Mutation_p.L717I|TAF1C_ENST00000570117.1_Missense_Mutation_p.L385I	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	717					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CGCTCACTGAGCTTGTCCTCT	0.716													False	0	False	16:84213008	0	T	84213008	G	T	84213008	3	4	88	1	0	0	0	0	1	0	0	0	15603	971	34	3	464	3	TAF1C	16	84213008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80189	84213008	6141745	15954	23666											
TAF1C	9013	broad.mit.edu	37	chr16	84215011	84215011	+	Missense_Mutation	SNP	G	G	A													cgcagtgaagtctgcccaacGccacgaagaggagtcccgga					rs140327311	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84215011G>A	ENST00000567759.1	-	10	1347	c.1165C>T	c.(1165-1167)Cgt>Tgt	p.R389C	TAF1C_ENST00000341690.6_Missense_Mutation_p.R296C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R363C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R296C|TAF1C_ENST00000378541.4_Missense_Mutation_p.R389C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R57C	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	389					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCTGCCCAACGCCACGAAGAG	0.652													False	0	False	16:84215011	0	A	84215011	G	A	84215011	3	1	88	1	0	0	0	0	1	0	0	0	15603	1087	38	1	1464	1	TAF1C	16	84215011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2003	84215011	6139742	15955	23667	253	2									
TAF1C	9013	broad.mit.edu	37	chr16	84215021	84215021	+	Silent	SNP	G	G	T													tctgcccaacgccacgaagaGgagtcccggaacacgagggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84215021G>T	ENST00000567759.1	-	10	1337	c.1155C>A	c.(1153-1155)tcC>tcA	p.S385S	TAF1C_ENST00000341690.6_Silent_p.S292S|TAF1C_ENST00000566732.1_Silent_p.S359S|TAF1C_ENST00000541676.1_Silent_p.S292S|TAF1C_ENST00000378541.4_Silent_p.S385S|TAF1C_ENST00000570117.1_Silent_p.S53S	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	385					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GCCACGAAGAGGAGTCCCGGA	0.657													False	0	False	16:84215021	0	T	84215021	G	T	84215021	2	4	88	1	0	0	0	0	0	0	0	1	15603	987	35	3		3	TAF1C	16	84215021	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10	84215021	6139732	15956	23668	253	2									
ADAD2	161931	broad.mit.edu	37	chr16	84227742	84227743	+	Frame_Shift_Ins	INS	-	-	AACACTTTTCCTAT													ggagaggggacctggatttgINSggtcctgactcaagttgggc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84227742_84227743insAACACTTTTCCTAT	ENST00000268624.3	+	2	642_643	c.549_550insAACACTTTTCCTAT	c.(550-552)ggtfs	p.G184fs	RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Intron|RP11-486L19.2_ENST00000565643.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	0					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						acctggatttgggtcctgactc	0.559													False	0	True	16:84227742	0	AACACTTTTCCTAT	84227743	-	AACACTTTTCCTAT	84227742	7	5	88	1	0	1	1	0	0	0	0	0	232	1339	47	0	555	0	ADAD2	16	84227742	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	12721	84227742	6127011	15957	23669											
KCNG4	93107	broad.mit.edu	37	chr16	84256170	84256170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaataggaggcggggaTgctggtgaactccagcaccc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84256170T>C	ENST00000308251.4	-	3	1281	c.1213A>G	c.(1213-1215)Atc>Gtc	p.I405V		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	405						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GAGGCGGGGATGCTGGTGAAC	0.647													False	0	False	16:84256170	0	C	84256170	T	C	84256170	3	2	88	1	0	0	0	0	1	0	0	0	8080	1464	51	4	348	4	KCNG4	16	84256170	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28428	84256170	6098583	15958	23670											
KCNG4	93107	broad.mit.edu	37	chr16	84270731	84270731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaagctcacgatcacccCgaaggcgctggggctcctgt	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84270731C>T	ENST00000568181.1	-	2	481	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	KCNG4_ENST00000308251.4_Missense_Mutation_p.G121R			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	121						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						ACGATCACCCCGAAGGCGCTG	0.622													False	0	True	16:84270731	0	T	84270731	C	T	84270731	3	4	88	1	0	0	0	0	1	0	0	0	8080	652	23	1	1204	1	KCNG4	16	84270731	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14561	84270731	6084022	15959	23671											
WFDC1	58189	broad.mit.edu	37	chr16	84353101	84353101	+	Silent	SNP	C	C	T													tgtccctcgggctatgagtgCcacatcctgagcccaggtga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84353101C>T	ENST00000219454.5	+	4	812	c.486C>T	c.(484-486)tgC>tgT	p.C162C	WFDC1_ENST00000568638.1_Silent_p.C162C	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	162					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GCTATGAGTGCCACATCCTGA	0.667													False	0	False	16:84353101	0	T	84353101	C	T	84353101	2	4	88	1	0	0	0	0	0	0	0	1	17430	747	26	2		2	WFDC1	16	84353101	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82370	84353101	6001652	15960	23672	254	2									
WFDC1	58189	broad.mit.edu	37	chr16	84353108	84353108	+	Silent	SNP	C	C	T													cgggctatgagtgccacatcCtgagcccaggtgacgtggcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84353108C>T	ENST00000219454.5	+	4	819	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	WFDC1_ENST00000568638.1_Silent_p.L165L	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	165					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GTGCCACATCCTGAGCCCAGG	0.667													False	0	False	16:84353108	0	T	84353108	C	T	84353108	2	4	88	1	0	0	0	0	0	0	0	1	17430	680	24	2		2	WFDC1	16	84353108	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	84353108	6001645	15961	23673	254	2									
ATP2C2	9914	broad.mit.edu	37	chr16	84442094	84442094	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatgaggacgccgtcagcatCgccacggtgagttccctgac	12	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84442094C>T	ENST00000416219.2	+	4	500	c.411C>T	c.(409-411)atC>atT	p.I137I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.I137I			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	137					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCGTCAGCATCGCCACGGTGA	0.537													False	0	False	16:84442094	0	T	84442094	C	T	84442094	2	4	88	1	0	0	0	0	0	0	0	1	1148	874	31	1		1	ATP2C2	16	84442094	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88986	84442094	5912659	15962	23674											
ATP2C2	9914	broad.mit.edu	37	chr16	84459343	84459343	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttttgtctcttccccaggtCtcatcatgctcattggctgg	8	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84459343C>T	ENST00000416219.2	+	11	1011	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.L308F			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	308					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TTCCCCAGGTCTCATCATGCT	0.502													False	0	False	16:84459343	0	T	84459343	C	T	84459343	3	4	88	1	0	0	0	0	1	0	0	0	1148	913	32	2	964	2	ATP2C2	16	84459343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17249	84459343	5895410	15963	23675											
ATP2C2	9914	broad.mit.edu	37	chr16	84485577	84485577	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcggctgacgtttctcggtCttgtgggcatcattgacccc	13	12	3	2	rs146513346	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84485577C>A	ENST00000416219.2	+	18	1800	c.1711C>A	c.(1711-1713)Ctt>Att	p.L571I	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.L571I			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	571					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTTTCTCGGTCTTGTGGGCAT	0.627													False	0	False	16:84485577	0	A	84485577	C	A	84485577	3	1	88	1	0	0	0	0	1	0	0	0	1148	913	32	3	1781	3	ATP2C2	16	84485577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26234	84485577	5869176	15964	23676											
KLHL36	79786	broad.mit.edu	37	chr16	84690700	84690700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcggcgcctcctacattgGgctcaaggccgtggtggact	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84690700G>A	ENST00000564996.1	+	3	428	c.287G>A	c.(286-288)gGg>gAg	p.G96E	KLHL36_ENST00000258157.5_Missense_Mutation_p.G96E	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	96	BTB.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCCTACATTGGGCTCAAGGCC	0.607													False	0	True	16:84690700	0	A	84690700	G	A	84690700	3	1	88	1	0	0	0	0	1	0	0	0	8439	1232	43	2	293	2	KLHL36	16	84690700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205123	84690700	5664053	15965	23677											
KLHL36	79786	broad.mit.edu	37	chr16	84691069	84691069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgccctgcagtggctgaCgcagcagcccgagcgcgagg	17	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84691069C>T	ENST00000564996.1	+	3	797	c.656C>T	c.(655-657)aCg>aTg	p.T219M	KLHL36_ENST00000258157.5_Missense_Mutation_p.T219M	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	219	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGTGGCTGACGCAGCAGCCC	0.667													False	0	False	16:84691069	0	T	84691069	C	T	84691069	3	4	88	1	0	0	0	0	1	0	0	0	8439	536	19	1	662	1	KLHL36	16	84691069	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	369	84691069	5663684	15966	23678											
KLHL36	79786	broad.mit.edu	37	chr16	84691332	84691332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcggcgaggtctccgagCggtgtctggagctcagtgac	18	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84691332C>T	ENST00000564996.1	+	3	1060	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	KLHL36_ENST00000258157.5_Missense_Mutation_p.R307W	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	307										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTCTCCGAGCGGTGTCTGGA	0.677													False	0	False	16:84691332	0	T	84691332	C	T	84691332	3	4	88	1	0	0	0	0	1	0	0	0	8439	759	27	1	925	1	KLHL36	16	84691332	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	263	84691332	5663421	15967	23679											
KLHL36	79786	broad.mit.edu	37	chr16	84695391	84695391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctactccatcgggggcagCgatgacaacatcgagtccat	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84695391C>T	ENST00000564996.1	+	5	1644	c.1503C>T	c.(1501-1503)agC>agT	p.S501S	KLHL36_ENST00000258157.5_Silent_p.S438S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	501										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCGGGGGCAGCGATGACAACA	0.682													False	0	False	16:84695391	0	T	84695391	C	T	84695391	2	4	88	1	0	0	0	0	0	0	0	1	8439	767	27	1		1	KLHL36	16	84695391	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4059	84695391	5659362	15968	23680											
ZDHHC7	55625	broad.mit.edu	37	chr16	85024017	85024017	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtctttggaaggcagcaGcatgacgaaagtcaccacga	12	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85024017G>T	ENST00000313732.4	-	3	560	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	ZDHHC7_ENST00000569488.1_5'UTR|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.L70M	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	70						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						GAAGGCAGCAGCATGACGAAA	0.557													False	0	True	16:85024017	0	T	85024017	G	T	85024017	3	4	88	1	0	0	0	0	1	0	0	0	17703	962	34	3	857	3	ZDHHC7	16	85024017	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	328626	85024017	5330736	15969	23681											
GINS2	51659	broad.mit.edu	37	chr16	85712255	85712255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggatttcgtctgccttcGggatgttgtctgaagcacta	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85712255G>A	ENST00000253462.3	-	4	423	c.323C>T	c.(322-324)cCg>cTg	p.P108L		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	108					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						GTCTGCCTTCGGGATGTTGTC	0.512													False	0	True	16:85712255	0	A	85712255	G	A	85712255	3	1	88	1	0	0	0	0	1	0	0	0	6433	1116	39	1	242	1	GINS2	16	85712255	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	688238	85712255	4642498	15970	23682											
COX4I1	1327	broad.mit.edu	37	chr16	85840345	85840345	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgtctcacaccgtagtGtacggccccctcccgcaaag	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85840345G>A	ENST00000562336.1	+	5	568	c.375G>A	c.(373-375)gtG>gtA	p.V125V	COX4I1_ENST00000564903.1_3'UTR|COX4I1_ENST00000568794.1_3'UTR|COX4I1_ENST00000253452.2_Splice_Site_p.V125V|COX4I1_ENST00000561569.1_Splice_Site_p.V125V			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	125					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				ACACCGTAGTGTACGGCCCCC	0.547													False	0	False	16:85840345	0	A	85840345	G	A	85840345	5	1	88	1	0	0	0	0	0	0	1	0	3792	1391	48	2	389	2	COX4I1	16	85840345	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128090	85840345	4514408	15971	23683											
IRF8	3394	broad.mit.edu	37	chr16	85952190	85952190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcttcccgccggccgacGccatccccagcgagcgacag	12	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85952190G>A	ENST00000268638.5	+	7	1191	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	IRF8_ENST00000562492.1_Missense_Mutation_p.A53T	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	257					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCGGCCGACGCCATCCCCAG	0.726													False	0	False	16:85952190	0	A	85952190	G	A	85952190	3	1	88	1	0	0	0	0	1	0	0	0	7886	1087	38	1	791	1	IRF8	16	85952190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111845	85952190	4402563	15972	23684											
IRF8	3394	broad.mit.edu	37	chr16	85954818	85954818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgccagaccaggtcttccGgatgtttccagatatttgtg	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85954818G>A	ENST00000268638.5	+	9	1633	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	IRF8_ENST00000562492.1_Missense_Mutation_p.R200Q	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	404					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CAGGTCTTCCGGATGTTTCCA	0.587													False	0	False	16:85954818	0	A	85954818	G	A	85954818	3	1	88	1	0	0	0	0	1	0	0	0	7886	1116	39	1	1241	1	IRF8	16	85954818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2628	85954818	4399935	15973	23685											
FOXF1	2294	broad.mit.edu	37	chr16	86544232	86544232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcggcggcggcggcggCgggggaggcggcgcggccat	26	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86544232C>T	ENST00000262426.4	+	1	100	c.57C>T	c.(55-57)ggC>ggT	p.G19G		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	19					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						gcggcggcggcgggggaggcg	0.776													False	0	True	16:86544232	0	T	86544232	C	T	86544232	2	4	88	1	0	0	0	0	0	0	0	1	6047	755	27	1		1	FOXF1	16	86544232	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	589414	86544232	3810521	15974	23686											
FOXF1	2294	broad.mit.edu	37	chr16	86545078	86545078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcggccaaccccctgtcCggcagcctctccacgcactc	8	23	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86545078C>T	ENST00000262426.4	+	1	946	c.903C>T	c.(901-903)tcC>tcT	p.S301S		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	301					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						ACCCCCTGTCCGGCAGCCTCT	0.706													False	0	False	16:86545078	0	T	86545078	C	T	86545078	2	4	88	1	0	0	0	0	0	0	0	1	6047	639	23	1		1	FOXF1	16	86545078	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	846	86545078	3809675	15975	23687											
FOXC2	2303	broad.mit.edu	37	chr16	86601141	86601141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaccagcccgcggcgcCtaaggacctggtgaagccgc	12	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601141C>A	ENST00000320354.4	+	1	285	c.200C>A	c.(199-201)cCt>cAt	p.P67H	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	67					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCCGCGGCGCCTAAGGACCTG	0.652									Late-onset Hereditary Lymphedema				False	0	False	16:86601141	0	A	86601141	C	A	86601141	3	1	88	1	0	0	0	0	1	0	0	0	6035	681	24	3	202	3	FOXC2	16	86601141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56063	86601141	3753612	15976	23688											
FOXC2	2303	broad.mit.edu	37	chr16	86601231	86601231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagatcaccttgaacgGcatctaccagttcatcatgg	9	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601231G>A	ENST00000320354.4	+	1	375	c.290G>A	c.(289-291)gGc>gAc	p.G97D	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	97					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ACCTTGAACGGCATCTACCAG	0.597									Late-onset Hereditary Lymphedema				False	0	False	16:86601231	0	A	86601231	G	A	86601231	3	1	88	1	0	0	0	0	1	0	0	0	6035	1203	42	2	292	2	FOXC2	16	86601231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90	86601231	3753522	15977	23689											
FOXC2	2303	broad.mit.edu	37	chr16	86601383	86601383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaagggcagttactggaccCtggacccggactcctacaac	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601383C>A	ENST00000320354.4	+	1	527	c.442C>A	c.(442-444)Ctg>Atg	p.L148M		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	148					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TTACTGGACCCTGGACCCGGA	0.627									Late-onset Hereditary Lymphedema				False	0	True	16:86601383	0	A	86601383	C	A	86601383	3	1	88	1	0	0	0	0	1	0	0	0	6035	680	24	3	444	3	FOXC2	16	86601383	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152	86601383	3753370	15978	23690											
FBXO31	79791	broad.mit.edu	37	chr16	87364932	87364932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgttcttgagcatctcatCgaaggcctgtggggacggcg	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87364932C>T	ENST00000311635.7	-	9	1594	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	528					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCATCTCATCGAAGGCCTGT	0.617													False	0	False	16:87364932	0	T	87364932	C	T	87364932	3	4	88	1	0	0	0	0	1	0	0	0	5781	884	31	1	41	1	FBXO31	16	87364932	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	763549	87364932	2989821	15979	23691											
FBXO31	79791	broad.mit.edu	37	chr16	87377229	87377229	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggccgtggtggggccctTtgtggccgtacatgcactcc	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87377229T>G	ENST00000311635.7	-	4	644	c.632A>C	c.(631-633)aAa>aCa	p.K211T		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	211					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GTGGGGCCCTTTGTGGCCGTA	0.637													False	0	True	16:87377229	0	G	87377229	T	G	87377229	3	3	88	1	0	0	0	0	1	0	0	0	5781	1841	64	4	1011	4	FBXO31	16	87377229	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12297	87377229	2977524	15980	23692											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445750	87445750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgggcagctgggcaaCgtggccatgttggcaaagga	19	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87445750C>T	ENST00000268616.4	-	12	2383	c.2166G>A	c.(2164-2166)acG>acA	p.T722T		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	722	Ser-rich.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGCTGGGCAACGTGGCCATGT	0.642													False	0	False	16:87445750	0	T	87445750	C	T	87445750	2	4	88	1	0	0	0	0	0	0	0	1	17666	523	19	1		1	ZCCHC14	16	87445750	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68521	87445750	2909003	15981	23693											
ZCCHC14	23174	broad.mit.edu	37	chr16	87446179	87446179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacatggagctgctctcCgaaagcccagagaggacctg	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87446179C>T	ENST00000268616.4	-	12	1954	c.1737G>A	c.(1735-1737)tcG>tcA	p.S579S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	579					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGCTGCTCTCCGAAAGCCCAG	0.612													False	0	False	16:87446179	0	T	87446179	C	T	87446179	2	4	88	1	0	0	0	0	0	0	0	1	17666	639	23	1		1	ZCCHC14	16	87446179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	429	87446179	2908574	15982	23694											
ZCCHC14	23174	broad.mit.edu	37	chr16	87448966	87448966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagatcttcttcagtaaggCtcaaaaactttcacagaaaa	5	9	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87448966C>A	ENST00000268616.4	-	9	1197	c.980G>T	c.(979-981)aGc>aTc	p.S327I		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	327					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTCAGTAAGGCTCAAAAACTT	0.393													False	0	False	16:87448966	0	A	87448966	C	A	87448966	3	1	88	1	0	0	0	0	1	0	0	0	17666	797	28	3	1889	3	ZCCHC14	16	87448966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2787	87448966	2905787	15983	23695											
JPH3	57338	broad.mit.edu	37	chr16	87677922	87677922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctacggcgtccggcagagCgtcccgtatggcatggccgc	16	14	0	1	rs140115944	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87677922C>T	ENST00000284262.2	+	2	683	c.441C>T	c.(439-441)agC>agT	p.S147S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	147					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TCCGGCAGAGCGTCCCGTATG	0.677													False	0	False	16:87677922	0	T	87677922	C	T	87677922	2	4	88	1	0	0	0	0	0	0	0	1	8012	767	27	1		1	JPH3	16	87677922	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228956	87677922	2676831	15984	23696											
JPH3	57338	broad.mit.edu	37	chr16	87678325	87678325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgaggacgacatcgacGccaccaccaccgagacctac	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87678325G>A	ENST00000284262.2	+	2	1086	c.844G>A	c.(844-846)Gcc>Acc	p.A282T		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	282					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGACATCGACGCCACCACCAC	0.667													False	0	True	16:87678325	0	A	87678325	G	A	87678325	3	1	88	1	0	0	0	0	1	0	0	0	8012	1087	38	1	850	1	JPH3	16	87678325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	403	87678325	2676428	15985	23697											
JPH3	57338	broad.mit.edu	37	chr16	87678515	87678515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcagaacatcctcgtcgGcggcaagcgcaagaacctca	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87678515G>A	ENST00000284262.2	+	2	1276	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	345					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ATCCTCGTCGGCGGCAAGCGC	0.677													False	0	False	16:87678515	0	A	87678515	G	A	87678515	3	1	88	1	0	0	0	0	1	0	0	0	8012	1203	42	2	1040	2	JPH3	16	87678515	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190	87678515	2676238	15986	23698											
KLHDC4	54758	broad.mit.edu	37	chr16	87744864	87744864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtccctcaaaccaacGgttcctggtggcgtcgtaga	11	13	1	1	rs141733244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87744864G>A	ENST00000270583.5	-	9	1079	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	KLHDC4_ENST00000353170.5_Missense_Mutation_p.R284C|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Missense_Mutation_p.R310C	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	341										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCAAACCAACGGTTCCTGGTG	0.587													False	0	False	16:87744864	0	A	87744864	G	A	87744864	3	1	88	1	0	0	0	0	1	0	0	0	8408	1116	39	1	553	1	KLHDC4	16	87744864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66349	87744864	2609889	15987	23699											
KLHDC4	54758	broad.mit.edu	37	chr16	87764186	87764186	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatggaagccaccaaacaGgatcaattgtctcttccagg	8	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87764186G>T	ENST00000270583.5	-	6	629	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	KLHDC4_ENST00000353170.5_Missense_Mutation_p.L134M|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Intron	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	191										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCACCAAACAGGATCAATTGT	0.438													False	0	False	16:87764186	0	T	87764186	G	T	87764186	3	4	88	1	0	0	0	0	1	0	0	0	8408	991	35	3	1015	3	KLHDC4	16	87764186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19322	87764186	2590567	15988	23700											
KLHDC4	54758	broad.mit.edu	37	chr16	87764215	87764215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctcttccaggccaccatcCgatgtccactccgacccgaa	7	18	1	0	rs145431417	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87764215C>T	ENST00000270583.5	-	6	600	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	KLHDC4_ENST00000353170.5_Missense_Mutation_p.R124Q|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Intron	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	181										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GGCCACCATCCGATGTCCACT	0.433													False	0	False	16:87764215	0	T	87764215	C	T	87764215	3	4	88	1	0	0	0	0	1	0	0	0	8408	652	23	1	1044	1	KLHDC4	16	87764215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	87764215	2590538	15989	23701											
SLC7A5	8140	broad.mit.edu	37	chr16	87868172	87868172	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggcaggccaggatgAagaacacaggcagggccagg	18	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87868172A>C	ENST00000261622.4	-	9	1381	c.1316T>G	c.(1315-1317)tTc>tGc	p.F439C	SLC7A5_ENST00000565644.1_Missense_Mutation_p.F173C	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	439					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		GGCCAGGATGAAGAACACAGG	0.647													False	0	False	16:87868172	0	C	87868172	A	C	87868172	3	2	88	1	0	0	0	0	1	0	0	0	14780	246	9	4	215	4	SLC7A5	16	87868172	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103957	87868172	2486581	15990	23702											
SLC7A5	8140	broad.mit.edu	37	chr16	87874675	87874675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatcctccataggcaaagaGgccgctgtataatgccagca	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87874675G>T	ENST00000261622.4	-	3	816	c.751C>A	c.(751-753)Ctc>Atc	p.L251I	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	251					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		TAGGCAAAGAGGCCGCTGTAT	0.522													False	0	False	16:87874675	0	T	87874675	G	T	87874675	3	4	88	1	0	0	0	0	1	0	0	0	14780	1000	35	3	804	3	SLC7A5	16	87874675	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6503	87874675	2480078	15991	23703											
BANP	54971	broad.mit.edu	37	chr16	88066767	88066767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcccgcagccacagccGcagccgcaggccctgcacta	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88066767G>A	ENST00000393207.1	+	9	1313	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	BANP_ENST00000355022.4_Silent_p.P333P|BANP_ENST00000538234.1_Silent_p.P372P|BANP_ENST00000479780.2_Silent_p.P333P|BANP_ENST00000355163.5_Silent_p.P339P|BANP_ENST00000393208.2_Silent_p.P333P|BANP_ENST00000286122.7_Silent_p.P364P	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	364	DNA-binding (By similarity).|Gln-rich.				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AGCCACAGCCGCAGCCGCAGG	0.627													False	0	True	16:88066767	0	A	88066767	G	A	88066767	2	1	88	1	0	0	0	0	0	0	0	1	1314	1074	38	1		1	BANP	16	88066767	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192092	88066767	2287986	15992	23704											
ZFPM1	161882	broad.mit.edu	37	chr16	88600853	88600853	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcgtgagcttccacagcctCgaggcctacctggcgcacaa	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88600853C>T	ENST00000319555.3	+	10	2809	c.2487C>T	c.(2485-2487)ctC>ctT	p.L829L		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	829					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCACAGCCTCGAGGCCTACC	0.756													False	0	False	16:88600853	0	T	88600853	C	T	88600853	2	4	88	1	0	0	0	0	0	0	0	1	17740	871	31	1		1	ZFPM1	16	88600853	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534086	88600853	1753900	15993	23705											
ZFPM1	161882	broad.mit.edu	37	chr16	88601210	88601210	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgccgcccccgccggcGcccccctcctactcggacaa	10	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88601210G>A	ENST00000319555.3	+	10	3166	c.2844G>A	c.(2842-2844)gcG>gcA	p.A948A		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	948					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ccccgccggcgcccccCTCCT	0.791													False	0	True	16:88601210	0	A	88601210	G	A	88601210	2	1	88	1	0	0	0	0	0	0	0	1	17740	1074	38	1		1	ZFPM1	16	88601210	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	357	88601210	1753543	15994	23706											
ZC3H18	124245	broad.mit.edu	37	chr16	88643732	88643732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaagataatcactcCgacgaggaggaccgggcaag	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88643732C>T	ENST00000301011.5	+	2	401	c.201C>T	c.(199-201)tcC>tcT	p.S67S	ZC3H18_ENST00000452588.2_Silent_p.S67S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	67						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ATAATCACTCCGACGAGGAGG	0.632													False	0	False	16:88643732	0	T	88643732	C	T	88643732	2	4	88	1	0	0	0	0	0	0	0	1	17651	639	23	1		1	ZC3H18	16	88643732	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42522	88643732	1711021	15995	23707											
ZC3H18	124245	broad.mit.edu	37	chr16	88643861	88643861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaggaagaccggacaagCgaccttagggatgaggcctc	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88643861C>T	ENST00000301011.5	+	2	530	c.330C>T	c.(328-330)agC>agT	p.S110S	ZC3H18_ENST00000452588.2_Silent_p.S110S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	110						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ACCGGACAAGCGACCTTAGGG	0.632													False	0	False	16:88643861	0	T	88643861	C	T	88643861	2	4	88	1	0	0	0	0	0	0	0	1	17651	767	27	1		1	ZC3H18	16	88643861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129	88643861	1710892	15996	23708											
ZC3H18	124245	broad.mit.edu	37	chr16	88677771	88677771	+	Silent	SNP	C	C	T													gagcgccggcagagggagcgCgagcgagagcgggagcgcga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88677771C>T	ENST00000301011.5	+	8	1502	c.1302C>T	c.(1300-1302)cgC>cgT	p.R434R	ZC3H18_ENST00000452588.2_Silent_p.R458R	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	434						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		agagggagcgcgagcgagagc	0.711													False	0	True	16:88677771	0	T	88677771	C	T	88677771	2	4	88	1	0	0	0	0	0	0	0	1	17651	755	27	1		1	ZC3H18	16	88677771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33910	88677771	1676982	15997	23709	255	2									
ZC3H18	124245	broad.mit.edu	37	chr16	88677775	88677775	+	Nonsense_Mutation	SNP	C	C	T													gccggcagagggagcgcgagCgagagcgggagcgcgagcgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88677775C>T	ENST00000301011.5	+	8	1506	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R460*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	436						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ggagcgcgagcgagagcggga	0.716													False	0	True	16:88677775	0	T	88677775	C	T	88677775	4	4	88	1	0	0	0	0	0	1	0	0	17651	760	27	1	1332	1	ZC3H18	16	88677775	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4	88677775	1676978	15998	23710	255	2									
ZC3H18	124245	broad.mit.edu	37	chr16	88688650	88688650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctgccaccacggggccGcaggtgaagagagcagatga	17	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88688650G>A	ENST00000301011.5	+	9	1721	c.1521G>A	c.(1519-1521)ccG>ccA	p.P507P	ZC3H18_ENST00000452588.2_Silent_p.P531P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	507						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCACGGGGCCGCAGGTGAAGA	0.602													False	0	False	16:88688650	0	A	88688650	G	A	88688650	2	1	88	1	0	0	0	0	0	0	0	1	17651	1074	38	1		1	ZC3H18	16	88688650	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10875	88688650	1666103	15999	23711											
ZC3H18	124245	broad.mit.edu	37	chr16	88690390	88690390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtccttctcttcgtccccGtccccgtccccaacaccttc	5	22	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88690390G>A	ENST00000301011.5	+	11	2018	c.1818G>A	c.(1816-1818)ccG>ccA	p.P606P	ZC3H18_ENST00000452588.2_Silent_p.P630P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	606	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTTCGTCCCCGTCCCCGTCCC	0.652													False	0	True	16:88690390	0	A	88690390	G	A	88690390	2	1	88	1	0	0	0	0	0	0	0	1	17651	1132	40	1		1	ZC3H18	16	88690390	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1740	88690390	1664363	16000	23712											
ZC3H18	124245	broad.mit.edu	37	chr16	88691101	88691101	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgagcccaccaagccaggaGaccctcgggaagccaggagg	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88691101G>T	ENST00000301011.5	+	12	2190	c.1990G>T	c.(1990-1992)Gac>Tac	p.D664Y	ZC3H18_ENST00000452588.2_Missense_Mutation_p.D688Y	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	664	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CAAGCCAGGAGACCCTCGGGA	0.672													False	0	False	16:88691101	0	T	88691101	G	T	88691101	3	4	88	1	0	0	0	0	1	0	0	0	17651	942	33	3	2032	3	ZC3H18	16	88691101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	711	88691101	1663652	16001	23713											
IL17C	27189	broad.mit.edu	37	chr16	88706252	88706252	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatgaggaccgctatccacaGaagctggccttcgccgagtg	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88706252G>T	ENST00000244241.4	+	3	415	c.366G>T	c.(364-366)caG>caT	p.Q122H		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	122					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCTATCCACAGAAGCTGGCCT	0.667													False	0	False	16:88706252	0	T	88706252	G	T	88706252	3	4	88	1	0	0	0	0	1	0	0	0	7686	933	33	3	376	3	IL17C	16	88706252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15151	88706252	1648501	16002	23714											
IL17C	27189	broad.mit.edu	37	chr16	88706264	88706264	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatccacagaagctggccttCgccgagtgcctgtgcagagg	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88706264C>T	ENST00000244241.4	+	3	427	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	126					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AGCTGGCCTTCGCCGAGTGCC	0.667													False	0	False	16:88706264	0	T	88706264	C	T	88706264	2	4	88	1	0	0	0	0	0	0	0	1	7686	883	31	1		1	IL17C	16	88706264	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	88706264	1648489	16003	23715											
MVD	4597	broad.mit.edu	37	chr16	88721747	88721747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttcatggtcagctgggCgaagctggggaagtctcgct	15	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88721747C>T	ENST00000301012.3	-	7	786	c.757G>A	c.(757-759)Gcc>Acc	p.A253T		NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	253					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GTCAGCTGGGCGAAGCTGGGG	0.642													False	0	True	16:88721747	0	T	88721747	C	T	88721747	3	4	88	1	0	0	0	0	1	0	0	0	10061	768	27	1	461	1	MVD	16	88721747	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15483	88721747	1633006	16004	23716											
MVD	4597	broad.mit.edu	37	chr16	88723885	88723885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggaggccaggcccgcaGccgtggggaagttgttcacc	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88723885G>A	ENST00000301012.3	-	4	391	c.362C>T	c.(361-363)gCt>gTt	p.A121V	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	121					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAGGCCCGCAGCCGTGGGGAA	0.687													False	0	False	16:88723885	0	A	88723885	G	A	88723885	3	1	88	1	0	0	0	0	1	0	0	0	10061	971	34	2	868	2	MVD	16	88723885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2138	88723885	1630868	16005	23717											
SNAI3	333929	broad.mit.edu	37	chr16	88744989	88744989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcccgaaggttggagCggtcggcaaaggccctgctg	18	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88744989C>T	ENST00000332281.5	-	3	832	c.746G>A	c.(745-747)cGc>cAc	p.R249H	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	249					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		AAGGTTGGAGCGGTCGGCAAA	0.647													False	0	False	16:88744989	0	T	88744989	C	T	88744989	3	4	88	1	0	0	0	0	1	0	0	0	14908	768	27	1	136	1	SNAI3	16	88744989	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21104	88744989	1609764	16006	23718											
SNAI3	333929	broad.mit.edu	37	chr16	88747821	88747821	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccggtctgggcccaaggtCggggaccaccgtgtgggcag	18	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88747821C>T	ENST00000332281.5	-	2	464	c.378G>A	c.(376-378)ccG>ccA	p.P126P	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	126					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GGCCCAAGGTCGGGGACCACC	0.677													False	0	True	16:88747821	0	T	88747821	C	T	88747821	2	4	88	1	0	0	0	0	0	0	0	1	14908	871	31	1		1	SNAI3	16	88747821	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2832	88747821	1606932	16007	23719											
CTU2	348180	broad.mit.edu	37	chr16	88779151	88779151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgtgctgggggccggggGtggtcctggcccgactcaag	19	11	1	0	rs148549191		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88779151G>A	ENST00000567949.1	+	7	797	c.788G>A	c.(787-789)gGt>gAt	p.G263D	CTU2_ENST00000453996.2_Missense_Mutation_p.G192D|CTU2_ENST00000378384.3_Missense_Mutation_p.G105D|CTU2_ENST00000312060.5_Missense_Mutation_p.G192D			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	192					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GGGGCCGGGGGTGGTCCTGGC	0.692													False	0	True	16:88779151	0	A	88779151	G	A	88779151	3	1	88	1	0	0	0	0	1	0	0	0	4073	1261	44	2	601	2	CTU2	16	88779151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31330	88779151	1575602	16008	23720											
CDT1	81620	broad.mit.edu	37	chr16	88872999	88872999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccgacatcgagccggccGcgctgccccagccacccgcc	10	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88872999G>A	ENST00000301019.4	+	7	1658	c.1039G>A	c.(1039-1041)Gcg>Acg	p.A347T		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	347					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGAGCCGGCCGCGCTGCCCCA	0.692													False	0	True	16:88872999	0	A	88872999	G	A	88872999	3	1	88	1	0	0	0	0	1	0	0	0	3203	1087	38	1	1065	1	CDT1	16	88872999	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93848	88872999	1481754	16009	23721											
TRAPPC2L	51693	broad.mit.edu	37	chr16	88925046	88925046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattaccccctctacattcGcagcacccctacggagaacg	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88925046G>A	ENST00000565504.1	+	2	77	c.53G>A	c.(52-54)cGc>cAc	p.R18H	TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000301021.3_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000564365.1_5'UTR|TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.R18H|TRAPPC2L_ENST00000567895.1_Intron|TRAPPC2L_ENST00000561840.1_Intron			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	18					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CTCTACATTCGCAGCACCCCT	0.557											OREG0024050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	16:88925046	0	A	88925046	G	A	88925046	3	1	88	1	0	0	0	0	1	0	0	0	16542	1087	38	1	59	1	TRAPPC2L	16	88925046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52047	88925046	1429707	16010	23722											
CBFA2T3	863	broad.mit.edu	37	chr16	88945800	88945800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagctcgtgcgctttgcGctccgcgtccgacacggctt	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88945800G>A	ENST00000268679.4	-	11	1936	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C	CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R438C|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R476C|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R428C|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R428C	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	514					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGCGCTTTGCGCTCCGCGTCC	0.662			T	RUNX1	AML								False	0	False	16:88945800	0	A	88945800	G	A	88945800	3	1	88	1	0	0	0	0	1	0	0	0	2718	1087	38	1	429	1	CBFA2T3	16	88945800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20754	88945800	1408953	16011	23723											
CBFA2T3	863	broad.mit.edu	37	chr16	88951484	88951484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgctctcgtagctcccGggggtctgggtggcggtagg	19	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88951484G>A	ENST00000268679.4	-	7	1483	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R287W|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R325W|RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R277W|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R277W	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	363	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGTAGCTCCCGGGGGTCTGGG	0.687			T	RUNX1	AML								False	0	True	16:88951484	0	A	88951484	G	A	88951484	3	1	88	1	0	0	0	0	1	0	0	0	2718	1115	39	1	898	1	CBFA2T3	16	88951484	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5684	88951484	1403269	16012	23724											
ACSF3	197322	broad.mit.edu	37	chr16	89167209	89167209	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccccagtggcccgctcGgacaggagcgccccggtgtt	14	16	0	0	rs34972688		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167209G>A	ENST00000317447.4	+	3	497	c.120G>A	c.(118-120)tcG>tcA	p.S40S	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Silent_p.S40S	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	40					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGCCCGCTCGGACAGGAGCG	0.677													False	0	False	16:89167209	0	A	89167209	G	A	89167209	2	1	88	1	0	0	0	0	0	0	0	1	176	1103	39	1		1	ACSF3	16	89167209	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215725	89167209	1187544	16013	23725											
ACSF3	197322	broad.mit.edu	37	chr16	89167319	89167319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttattcccgcagccttcGcctgtcccaggagatctgca	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167319G>A	ENST00000317447.4	+	3	607	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.R77H	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	77					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CGCAGCCTTCGCCTGTCCCAG	0.652													False	0	False	16:89167319	0	A	89167319	G	A	89167319	3	1	88	1	0	0	0	0	1	0	0	0	176	1087	38	1	232	1	ACSF3	16	89167319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110	89167319	1187434	16014	23726											
ACSF3	197322	broad.mit.edu	37	chr16	89167347	89167347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagatctgcaggctctgCgggtgtgtcggcggggacct	18	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167347C>T	ENST00000317447.4	+	3	635	c.258C>T	c.(256-258)tgC>tgT	p.C86C	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Silent_p.C86C	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	86					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCAGGCTCTGCGGGTGTGTCG	0.642													False	0	True	16:89167347	0	T	89167347	C	T	89167347	2	4	88	1	0	0	0	0	0	0	0	1	176	776	27	1		1	ACSF3	16	89167347	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	89167347	1187406	16015	23727											
ACSF3	197322	broad.mit.edu	37	chr16	89167414	89167414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctaacgatgcctcctacGtcgtggcccagtgggcgtca	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167414G>A	ENST00000317447.4	+	3	702	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.V109I	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	109					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGCCTCCTACGTCGTGGCCCA	0.647													False	0	False	16:89167414	0	A	89167414	G	A	89167414	3	1	88	1	0	0	0	0	1	0	0	0	176	1145	40	1	327	1	ACSF3	16	89167414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	89167414	1187339	16016	23728											
CDH15	1013	broad.mit.edu	37	chr16	89256724	89256724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggccccgctgcaggcggCtgcccttagggctgagcggg	18	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256724C>A	ENST00000289746.2	+	8	1117	c.1052C>A	c.(1051-1053)gCt>gAt	p.A351D		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	351	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CTGCAGGCGGCTGCCCTTAGG	0.627													False	0	False	16:89256724	0	A	89256724	C	A	89256724	3	1	88	1	0	0	0	0	1	0	0	0	3123	797	28	3	1082	3	CDH15	16	89256724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89310	89256724	1098029	16017	23729											
CDH15	1013	broad.mit.edu	37	chr16	89256765	89256765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggccaaggtccgcgtgCatgtgcaggacaccaacgag	14	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256765C>T	ENST00000289746.2	+	8	1158	c.1093C>T	c.(1093-1095)Cat>Tat	p.H365Y		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	365	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGTCCGCGTGCATGTGCAGGA	0.652													False	0	False	16:89256765	0	T	89256765	C	T	89256765	3	4	88	1	0	0	0	0	1	0	0	0	3123	710	25	2	1123	2	CDH15	16	89256765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41	89256765	1097988	16018	23730											
CDH15	1013	broad.mit.edu	37	chr16	89256843	89256843	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagcagagggggcacccccaGgcactctggtggccaccttc	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256843G>T	ENST00000289746.2	+	8	1236	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCACCCCCAGGCACTCTGGT	0.672													False	0	False	16:89256843	0	T	89256843	G	T	89256843	3	4	88	1	0	0	0	0	1	0	0	0	3123	1000	35	3	1201	3	CDH15	16	89256843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78	89256843	1097910	16019	23731											
ANKRD11	29123	broad.mit.edu	37	chr16	89341252	89341252	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcatgttgtagacctcGgagtccagcagcatcgtgca	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89341252G>A	ENST00000301030.4	-	11	8143	c.7683C>T	c.(7681-7683)tcC>tcT	p.S2561S	ANKRD11_ENST00000378330.2_Silent_p.S2561S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2561						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTAGACCTCGGAGTCCAGCA	0.647													False	0	False	16:89341252	0	A	89341252	G	A	89341252	2	1	88	1	0	0	0	0	0	0	0	1	639	1103	39	1		1	ANKRD11	16	89341252	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84409	89341252	1013501	16020	23732											
ANKRD11	29123	broad.mit.edu	37	chr16	89341273	89341273	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagtccagcagcatcgtgcaGgcgctgaatggcactgcctg	14	12	0	1	rs139657234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89341273G>T	ENST00000301030.4	-	11	8122	c.7662C>A	c.(7660-7662)gcC>gcA	p.A2554A	ANKRD11_ENST00000378330.2_Silent_p.A2554A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2554						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCATCGTGCAGGCGCTGAATG	0.622													False	0	False	16:89341273	0	T	89341273	G	T	89341273	2	4	88	1	0	0	0	0	0	0	0	1	639	987	35	3		3	ANKRD11	16	89341273	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	89341273	1013480	16021	23733											
ANKRD11	29123	broad.mit.edu	37	chr16	89345738	89345738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacctcccgcgtctgctgCgtggacgtgttcagctgctg	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89345738C>T	ENST00000301030.4	-	9	7672	c.7212G>A	c.(7210-7212)acG>acA	p.T2404T	ANKRD11_ENST00000378330.2_Silent_p.T2404T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2404						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGTCTGCTGCGTGGACGTGT	0.682													False	0	False	16:89345738	0	T	89345738	C	T	89345738	2	4	88	1	0	0	0	0	0	0	0	1	639	755	27	1		1	ANKRD11	16	89345738	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4465	89345738	1009015	16022	23734											
ANKRD11	29123	broad.mit.edu	37	chr16	89346638	89346638	+	Silent	SNP	G	G	A													tgagacaggccgcggctgccGtccaggaagctattttccag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89346638G>A	ENST00000301030.4	-	9	6772	c.6312C>T	c.(6310-6312)gaC>gaT	p.D2104D	ANKRD11_ENST00000378330.2_Silent_p.D2104D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2104	Pro-rich.					nucleus		p.D2104D(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGCGGCTGCCGTCCAGGAAGC	0.726													False	0	False	16:89346638	0	A	89346638	G	A	89346638	2	1	88	1	0	0	0	0	0	0	0	1	639	1136	40	1		1	ANKRD11	16	89346638	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	900	89346638	1008115	16023	23735	256	2									
ANKRD11	29123	broad.mit.edu	37	chr16	89346643	89346643	+	Missense_Mutation	SNP	G	G	T													caggccgcggctgccgtccaGgaagctattttccaggggcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89346643G>T	ENST00000301030.4	-	9	6767	c.6307C>A	c.(6307-6309)Ctg>Atg	p.L2103M	ANKRD11_ENST00000378330.2_Missense_Mutation_p.L2103M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2103	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGCCGTCCAGGAAGCTATTT	0.716													False	0	False	16:89346643	0	T	89346643	G	T	89346643	3	4	88	1	0	0	0	0	1	0	0	0	639	991	35	3	1704	3	ANKRD11	16	89346643	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	89346643	1008110	16024	23736	256	2									
ANKRD11	29123	broad.mit.edu	37	chr16	89347194	89347194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggatgatggcggccgtcGcctgctggtcctcggaggtg	20	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89347194G>A	ENST00000301030.4	-	9	6216	c.5756C>T	c.(5755-5757)gCg>gTg	p.A1919V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1919V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1919	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCGGCCGTCGCCTGCTGGTC	0.677													False	0	False	16:89347194	0	A	89347194	G	A	89347194	3	1	88	1	0	0	0	0	1	0	0	0	639	1087	38	1	2255	1	ANKRD11	16	89347194	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	551	89347194	1007559	16025	23737											
ANKRD11	29123	broad.mit.edu	37	chr16	89347666	89347666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaagccacggagaacctgtCgaaaaaggagggggagcagg	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89347666C>T	ENST00000301030.4	-	9	5744	c.5284G>A	c.(5284-5286)Gac>Aac	p.D1762N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1762N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1762						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GAGAACCTGTCGAAAAAGGAG	0.637													False	0	False	16:89347666	0	T	89347666	C	T	89347666	3	4	88	1	0	0	0	0	1	0	0	0	639	884	31	1	2727	1	ANKRD11	16	89347666	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	472	89347666	1007087	16026	23738											
ANKRD11	29123	broad.mit.edu	37	chr16	89348197	89348197	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccttctgggacagcatccTctcgaagctggtcatcatca	9	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348197T>G	ENST00000301030.4	-	9	5213	c.4753A>C	c.(4753-4755)Agg>Cgg	p.R1585R	ANKRD11_ENST00000378330.2_Silent_p.R1585R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1585	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GACAGCATCCTCTCGAAGCTG	0.597													False	0	False	16:89348197	0	G	89348197	T	G	89348197	2	3	88	1	0	0	0	0	0	0	0	1	639	1550	54	4		4	ANKRD11	16	89348197	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	531	89348197	1006556	16027	23739											
ANKRD11	29123	broad.mit.edu	37	chr16	89348524	89348524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccgcatgcctgtcccggtGcctctccttctcgtctctcc	7	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348524G>A	ENST00000301030.4	-	9	4886	c.4426C>T	c.(4426-4428)Cac>Tac	p.H1476Y	ANKRD11_ENST00000378330.2_Missense_Mutation_p.H1476Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1476	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGTCCCGGTGCctctccttc	0.552													False	0	False	16:89348524	0	A	89348524	G	A	89348524	3	1	88	1	0	0	0	0	1	0	0	0	639	1319	46	2	3585	2	ANKRD11	16	89348524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	327	89348524	1006229	16028	23740											
ANKRD11	29123	broad.mit.edu	37	chr16	89349137	89349137	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttccgcgtcggcacttctCgaggacttcctctccttgga	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89349137C>T	ENST00000301030.4	-	9	4273	c.3813G>A	c.(3811-3813)tcG>tcA	p.S1271S	ANKRD11_ENST00000378330.2_Silent_p.S1271S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1271	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGCACTTCTCGAGGACTTCC	0.488													False	0	False	16:89349137	0	T	89349137	C	T	89349137	2	4	88	1	0	0	0	0	0	0	0	1	639	871	31	1		1	ANKRD11	16	89349137	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	613	89349137	1005616	16029	23741											
ANKRD11	29123	broad.mit.edu	37	chr16	89350530	89350530	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcagaatcttccctataaAccttttcttttttgagtttt	4	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89350530A>C	ENST00000301030.4	-	9	2880	c.2420T>G	c.(2419-2421)gTt>gGt	p.V807G	ANKRD11_ENST00000378330.2_Missense_Mutation_p.V807G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	807	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCCCTATAAACCTTTTCTTT	0.313													False	0	True	16:89350530	0	C	89350530	A	C	89350530	3	2	88	1	0	0	0	0	1	0	0	0	639	43	2	4	5591	4	ANKRD11	16	89350530	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1393	89350530	1004223	16030	23742											
ANKRD11	29123	broad.mit.edu	37	chr16	89357207	89357207	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccttctgacacactgtagActgggaggggtgctttggtg	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89357207A>G	ENST00000301030.4	-	6	887	c.427T>C	c.(427-429)Tct>Cct	p.S143P	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S143P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	143						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACACTGTAGACTGGGAGGGG	0.557													False	0	False	16:89357207	0	G	89357207	A	G	89357207	3	3	88	1	0	0	0	0	1	0	0	0	639	275	10	4	7596	4	ANKRD11	16	89357207	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6677	89357207	997546	16031	23743											
ANKRD11	29123	broad.mit.edu	37	chr16	89371699	89371699	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccctcacctccttcccGccatcgccacgctccagttt	5	22	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89371699G>A	ENST00000301030.4	-	4	601	c.141C>T	c.(139-141)ggC>ggT	p.G47G	ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000378330.2_Silent_p.G47G|ANKRD11_ENST00000563291.1_Silent_p.G47G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	47						nucleus		p.G47G(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCCTTCCCGCCATCGCCAC	0.557													False	0	True	16:89371699	0	A	89371699	G	A	89371699	2	1	88	1	0	0	0	0	0	0	0	1	639	1074	38	1		1	ANKRD11	16	89371699	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14492	89371699	983054	16032	23744											
SPG7	6687	broad.mit.edu	37	chr16	89598955	89598955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacatcgatgagatcgacgCggtgggcaagaagcgctcca	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89598955C>T	ENST00000268704.2	+	9	1250	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V	SPG7_ENST00000341316.2_Missense_Mutation_p.A412V	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	412					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAGATCGACGCGGTGGGCAAG	0.627													False	0	False	16:89598955	0	T	89598955	C	T	89598955	3	4	88	1	0	0	0	0	1	0	0	0	15126	768	27	1	1269	1	SPG7	16	89598955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227256	89598955	755798	16033	23745											
SPG7	6687	broad.mit.edu	37	chr16	89619414	89619414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacccctcggacaaacgccGccctgggctttgctcagatg	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89619414G>A	ENST00000268704.2	+	14	1822	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	603			A -> T.		cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GACAAACGCCGCCCTGGGCTT	0.602													False	0	True	16:89619414	0	A	89619414	G	A	89619414	3	1	88	1	0	0	0	0	1	0	0	0	15126	1087	38	1	2011	1	SPG7	16	89619414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20459	89619414	735339	16034	23746											
DPEP1	1800	broad.mit.edu	37	chr16	89703612	89703612	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggagccctgtcttcccagCgtgtggtgaaggagctgaac	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89703612C>T	ENST00000393092.3	+	7	883	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	DPEP1_ENST00000261615.4_Splice_Site_p.R198C|DPEP1_ENST00000421184.1_Splice_Site_p.R198C	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	198					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GTCTTCCCAGCGTGTGGTGAA	0.652													False	0	False	16:89703612	0	T	89703612	C	T	89703612	5	4	88	1	0	0	0	0	0	0	1	0	4743	782	27	1	614	1	DPEP1	16	89703612	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84198	89703612	651141	16035	23747											
CHMP1A	5119	broad.mit.edu	37	chr16	89712332	89712332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaacaaccctaaggccacGcaggcctggcaggtgagaga	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89712332G>A	ENST00000253475.5	-	6	845	c.713C>T	c.(712-714)gCg>gTg	p.A238V	CHMP1A_ENST00000535997.2_3'UTR|CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000550102.1_3'UTR	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	0					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CTAAGGCCACGCAGGCCTGGC	0.607													False	0	False	16:89712332	0	A	89712332	G	A	89712332	3	1	88	1	0	0	0	0	1	0	0	0	3375	1087	38	1	13	1	CHMP1A	16	89712332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8720	89712332	642421	16036	23748											
CHMP1A	5119	broad.mit.edu	37	chr16	89712424	89712424	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggtggggagaggacaggaGccttccagcacatcacgggg	18	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89712424G>A	ENST00000253475.5	-	6	753	c.621C>T	c.(619-621)ggC>ggT	p.G207G	CHMP1A_ENST00000535997.2_3'UTR|CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000550102.1_3'UTR	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	0					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GAGGACAGGAGCCTTCCAGCA	0.677													False	0	False	16:89712424	0	A	89712424	G	A	89712424	2	1	88	1	0	0	0	0	0	0	0	1	3375	958	34	2		2	CHMP1A	16	89712424	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92	89712424	642329	16037	23749											
CDK10	8558	broad.mit.edu	37	chr16	89758865	89758865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgcacaggtcaagtgCatcgtgctgcaggtgctccg	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89758865C>T	ENST00000331006.8	+	5	2026	c.285C>T	c.(283-285)tgC>tgT	p.C95C	CDK10_ENST00000353379.7_Silent_p.C142C|CDK10_ENST00000505473.1_Silent_p.C71C			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	142	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		AGGTCAAGTGCATCGTGCTGC	0.597													False	0	False	16:89758865	0	T	89758865	C	T	89758865	2	4	88	1	0	0	0	0	0	0	0	1	3148	718	25	2		2	CDK10	16	89758865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46441	89758865	595888	16038	23750											
CDK10	8558	broad.mit.edu	37	chr16	89759861	89759861	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagccaatgacccccaaGgtggtcactctctggtaagt	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89759861G>T	ENST00000331006.8	+	7	2194	c.453G>T	c.(451-453)aaG>aaT	p.K151N	CDK10_ENST00000353379.7_Missense_Mutation_p.K198N|CDK10_ENST00000505473.1_Missense_Mutation_p.K127N			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	198	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	p.K198N(1)		ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGACCCCCAAGGTGGTCACTC	0.607													False	0	False	16:89759861	0	T	89759861	G	T	89759861	3	4	88	1	0	0	0	0	1	0	0	0	3148	991	35	3	624	3	CDK10	16	89759861	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	996	89759861	594892	16039	23751											
SPATA2L	124044	broad.mit.edu	37	chr16	89764195	89764195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggctcccaggcccggccCccagtgccccacagtttggc	14	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89764195C>T	ENST00000289805.5	-	3	890	c.822G>A	c.(820-822)ggG>ggA	p.G274G	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	274										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGCCCGGCCCCCAGTGCCCC	0.697													False	0	True	16:89764195	0	T	89764195	C	T	89764195	2	4	88	1	0	0	0	0	0	0	0	1	15091	610	22	2		2	SPATA2L	16	89764195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4334	89764195	590558	16040	23752											
SPATA2L	124044	broad.mit.edu	37	chr16	89764461	89764461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtccccgctggcacgccGtgcctgcagcagctcctcag	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89764461G>A	ENST00000289805.5	-	3	624	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	186										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CTGGCACGCCGTGCCTGCAGC	0.726													False	0	False	16:89764461	0	A	89764461	G	A	89764461	3	1	88	1	0	0	0	0	1	0	0	0	15091	1144	40	1	722	1	SPATA2L	16	89764461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266	89764461	590292	16041	23753											
FANCA	2175	broad.mit.edu	37	chr16	89807275	89807275	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaaggaaaaccaatagCtgtaaataaaaacgtgcact	7	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89807275C>T	ENST00000389301.3	-	38	3796		c.e38-1		ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Splice_Site	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A						DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AAACCAATAGCTGTAAATAAA	0.378			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	16:89807275	0	T	89807275	C	T	89807275	5	4	88	1	0	0	0	0	0	0	1	0	5702	811	28	2	626	2	FANCA	16	89807275	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42814	89807275	547478	16042	23754											
FANCA	2175	broad.mit.edu	37	chr16	89815125	89815125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcagtgatgggctgttctGcctggaagctgctgccgcag	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89815125G>A	ENST00000389301.3	-	33	3320	c.3290C>T	c.(3289-3291)gCa>gTa	p.A1097V	FANCA_ENST00000568369.1_Missense_Mutation_p.A1097V	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1097					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGCTGTTCTGCCTGGAAGCT	0.592			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	16:89815125	0	A	89815125	G	A	89815125	3	1	88	1	0	0	0	0	1	0	0	0	5702	1319	46	2	1121	2	FANCA	16	89815125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7850	89815125	539628	16043	23755											
TCF25	22980	broad.mit.edu	37	chr16	89971399	89971399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaccttgggaggtcacactTtctctggaaagagcccgcca	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89971399T>C	ENST00000263346.8	+	14	1579	c.1523T>C	c.(1522-1524)tTt>tCt	p.F508S	TCF25_ENST00000263347.7_Missense_Mutation_p.F273S	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	508					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGGTCACACTTTCTCTGGAAA	0.632													False	0	True	16:89971399	0	C	89971399	T	C	89971399	3	2	88	1	0	0	0	0	1	0	0	0	15775	1841	64	4	1577	4	TCF25	16	89971399	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156274	89971399	383354	16044	23756											
TCF25	22980	broad.mit.edu	37	chr16	89977554	89977554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggcctgaacaggctgatgCtggctgtgcgcgacatgatg	16	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89977554C>A	ENST00000263346.8	+	18	1995	c.1939C>A	c.(1939-1941)Ctg>Atg	p.L647M	TCF25_ENST00000263347.7_Missense_Mutation_p.A451D|RP11-566K11.7_ENST00000570217.1_RNA	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	647					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAGGCTGATGCTGGCTGTGCG	0.667													False	0	True	16:89977554	0	A	89977554	C	A	89977554	3	1	88	1	0	0	0	0	1	0	0	0	15775	796	28	3	2009	3	TCF25	16	89977554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6155	89977554	377199	16045	23757											
TCF25	22980	broad.mit.edu	37	chr16	89977587	89977587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgatggccaacttccacCtcaacgacctggaggcgccg	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89977587C>T	ENST00000263346.8	+	18	2028	c.1972C>T	c.(1972-1974)Ctc>Ttc	p.L658F	TCF25_ENST00000263347.7_Missense_Mutation_p.P462L|RP11-566K11.7_ENST00000570217.1_RNA	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	658					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAACTTCCACCTCAACGACCT	0.647													False	0	False	16:89977587	0	T	89977587	C	T	89977587	3	4	88	1	0	0	0	0	1	0	0	0	15775	681	24	2	2042	2	TCF25	16	89977587	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	89977587	377166	16046	23758											
TUBB3	10381	broad.mit.edu	37	chr16	89999002	89999002	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaagtcatcagtgatgaGcatggcatcgaccccagcgg	14	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89999002G>A	ENST00000556922.1	+	3	1216	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E	TUBB3_ENST00000315491.7_Silent_p.E27E|TUBB3_ENST00000304984.5_5'UTR|TUBB3_ENST00000555576.1_Silent_p.E27E|TUBB3_ENST00000554336.1_Silent_p.E27E|TUBB3_ENST00000553967.1_Silent_p.E27E|TUBB3_ENST00000554444.1_5'UTR			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	27					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TCAGTGATGAGCATGGCATCG	0.607													False	0	False	16:89999002	0	A	89999002	G	A	89999002	2	1	88	1	0	0	0	0	0	0	0	1	16841	962	34	2		2	TUBB3	16	89999002	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21415	89999002	355751	16047	23759											
TUBB3	10381	broad.mit.edu	37	chr16	90001610	90001610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagctcaacgctgacctgCgcaagctggccgtcaacatg	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90001610C>T	ENST00000304984.5	+	3	2830	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	TUBB3_ENST00000315491.7_Missense_Mutation_p.R251C|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.R598C|TUBB3_ENST00000554444.1_Missense_Mutation_p.R179C			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	251					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CGCTGACCTGCGCAAGCTGGC	0.687													False	0	False	16:90001610	0	T	90001610	C	T	90001610	3	4	88	1	0	0	0	0	1	0	0	0	16841	768	27	1	765	1	TUBB3	16	90001610	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2608	90001610	353143	16048	23760											
DEF8	54849	broad.mit.edu	37	chr16	90025581	90025581	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgggccgagacccagaCgaggagtgaggaatgagaga	18	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90025581C>T	ENST00000418391.2	+	6	659	c.532C>T	c.(532-534)Cga>Tga	p.R178*	DEF8_ENST00000569453.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563848.1_Intron|DEF8_ENST00000268676.7_Intron|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000563795.1_Intron	NM_001242821.1|NM_001242822.1|NM_017702.3	NP_001229750.1|NP_001229751.1|NP_060172.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	0					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GAGACCCAGACGAGGAGTGAG	0.557													False	0	False	16:90025581	0	T	90025581	C	T	90025581	4	4	88	1	0	0	0	0	0	1	0	0	4412	528	19	1	733	1	DEF8	16	90025581	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23971	90025581	329172	16049	23761											
DEF8	54849	broad.mit.edu	37	chr16	90027341	90027341	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtccctccaccctagggTgttattaccgctgtcacagt	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90027341T>C	ENST00000563594.1	+	7	1514	c.517T>C	c.(517-519)Tgt>Cgt	p.C173R	DEF8_ENST00000569453.1_Missense_Mutation_p.C173R|DEF8_ENST00000570182.1_Missense_Mutation_p.C163R|DEF8_ENST00000567874.1_Missense_Mutation_p.C113R|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000268676.7_Missense_Mutation_p.C234R|DEF8_ENST00000563795.1_Missense_Mutation_p.C173R	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	234					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CACCCTAGGGTGTTATTACCG	0.582													False	0	True	16:90027341	0	C	90027341	T	C	90027341	3	2	88	1	0	0	0	0	1	0	0	0	4412	1696	59	4	802	4	DEF8	16	90027341	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1760	90027341	327412	16050	23762											
GAS8	2622	broad.mit.edu	37	chr16	90097793	90097793	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagctggagcgggacaagatCcacaccttctgggagatcac	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90097793C>A	ENST00000268699.4	+	3	299	c.177C>A	c.(175-177)atC>atA	p.I59I	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.I34I	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	59	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGGACAAGATCCACACCTTCT	0.622													False	0	False	16:90097793	0	A	90097793	C	A	90097793	2	1	88	1	0	0	0	0	0	0	0	1	6294	845	30	3		3	GAS8	16	90097793	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70452	90097793	256960	16051	23763											
GAS8	2622	broad.mit.edu	37	chr16	90102049	90102049	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccctgtgcagaaacacacCgaggagatcaccaggatgcg	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90102049C>T	ENST00000268699.4	+	5	626	c.504C>T	c.(502-504)acC>acT	p.T168T	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.T143T	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	168	Microtubule-binding.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGAAACACACCGAGGAGATCA	0.562													False	0	True	16:90102049	0	T	90102049	C	T	90102049	2	4	88	1	0	0	0	0	0	0	0	1	6294	639	23	1		1	GAS8	16	90102049	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4256	90102049	252704	16052	23764											
GAS8	2622	broad.mit.edu	37	chr16	90109727	90109727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacactgggccagggccccGcgggactggtgggcaccccg	17	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90109727G>A	ENST00000268699.4	+	11	1533	c.1411G>A	c.(1411-1413)Gcg>Acg	p.A471T	URAHP_ENST00000517889.1_RNA|GAS8_ENST00000536122.1_Missense_Mutation_p.A446T	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	471					negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CCAGGGCCCCGCGGGACTGGT	0.637													False	0	True	16:90109727	0	A	90109727	G	A	90109727	3	1	88	1	0	0	0	0	1	0	0	0	6294	1087	38	1	1453	1	GAS8	16	90109727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7678	90109727	245026	16053	23765											
PRDM7	11105	broad.mit.edu	37	chr16	90128425	90128425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcagatcagatgcctcGttccatactccaagcccagc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90128425G>A	ENST00000407825.1	-	7	805	c.168C>T	c.(166-168)aaC>aaT	p.N56N	PRDM7_ENST00000449207.2_Silent_p.N262N|PRDM7_ENST00000325921.6_Silent_p.N56N			Q9NQW5	PRDM7_HUMAN	PR domain containing 7	262	KRAB-related.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CAGATGCCTCGTTCCATACTC	0.577													False	0	False	16:90128425	0	A	90128425	G	A	90128425	2	1	88	1	0	0	0	0	0	0	0	1	12537	1136	40	1		1	PRDM7	16	90128425	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18698	90128425	226328	16054	23766											
RPH3AL	9501	broad.mit.edu	37	chr17	63652	63652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagacacctcagcccagGcagctggaggggcctgctgg	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63652G>A	ENST00000323434.8	-	9	1449	c.852C>T	c.(850-852)tgC>tgT	p.C284C	RPH3AL_ENST00000331302.7_Silent_p.C313C|RPH3AL_ENST00000536489.2_Silent_p.C284C	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	313					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTCAGCCCAGGCAGCTGGAGG	0.632													False	0	False	17:63652	0	A	63652	G	A	63652	2	1	88	1	0	0	0	0	0	0	0	1	13631	1195	42	2		2	RPH3AL	17	63652	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08		63652	81131558	16055	23767											
C17orf97	400566	broad.mit.edu	37	chr17	263004	263004	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctttcatgacatcttaagtCcttgcaaagagcgtggcccg	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:263004C>A	ENST00000360127.6	+	2	386	c.370C>A	c.(370-372)Cct>Act	p.P124T	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	124										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CATCTTAAGTCCTTGCAAAGA	0.517													False	0	False	17:263004	0	A	263004	C	A	263004	3	1	88	1	0	0	0	0	1	0	0	0	1906	855	30	3		3	C17orf97	17	263004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199352	263004	80932206	16056	23768											
C17orf97	400566	broad.mit.edu	37	chr17	263016	263016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttaagtccttgcaaagagCgtggcccgaaaccagagcac	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:263016C>T	ENST00000360127.6	+	2	398	c.382C>T	c.(382-384)Cgt>Tgt	p.R128C	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	128										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTGCAAAGAGCGTGGCCCGAA	0.507													False	0	False	17:263016	0	T	263016	C	T	263016	3	4	88	1	0	0	0	0	1	0	0	0	1906	768	27	1		1	C17orf97	17	263016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	263016	80932194	16057	23769											
VPS53	55275	broad.mit.edu	37	chr17	531366	531366	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtaccagatactctgacaGatgctgtttaataaactttt	6	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:531366G>T	ENST00000437048.2	-	9	939	c.793C>A	c.(793-795)Ctg>Atg	p.L265M	VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000571805.1_Missense_Mutation_p.L265M|VPS53_ENST00000291074.5_Missense_Mutation_p.L236M|VPS53_ENST00000446250.2_Missense_Mutation_p.L67M|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000574029.1_Intron	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	265					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TACTCTGACAGATGCTGTTTA	0.358													False	0	False	17:531366	0	T	531366	G	T	531366	3	4	88	1	0	0	0	0	1	0	0	0	17299	933	33	3	1776	3	VPS53	17	531366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268350	531366	80663844	16058	23770											
FAM57A	79850	broad.mit.edu	37	chr17	644642	644642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccttcatgtactggtcCtatggccgccagcagggact	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:644642C>T	ENST00000308278.8	+	5	842	c.606C>T	c.(604-606)tcC>tcT	p.S202S	FAM57A_ENST00000301324.8_Silent_p.S170S	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	202	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGTACTGGTCCTATGGCCGCC	0.542													False	0	False	17:644642	0	T	644642	C	T	644642	2	4	88	1	0	0	0	0	0	0	0	1	5628	668	24	2		2	FAM57A	17	644642	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113276	644642	80550568	16059	23771											
GEMIN4	50628	broad.mit.edu	37	chr17	648153	648153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttggcgccgttcttcagGgccgatgccctcagcaatgg	14	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:648153G>A	ENST00000576778.1	-	1	4438	c.3097C>T	c.(3097-3099)Cct>Tct	p.P1033S	GEMIN4_ENST00000319004.5_Missense_Mutation_p.P1044S			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	1044			R -> C (in dbSNP:rs7813).		rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGTTCTTCAGGGCCGATGCCC	0.577													False	0	True	17:648153	0	A	648153	G	A	648153	3	1	88	1	0	0	0	0	1	0	0	0	6375	1232	43	2	50	2	GEMIN4	17	648153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3511	648153	80547057	16060	23772											
GEMIN4	50628	broad.mit.edu	37	chr17	650235	650235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgaaggaagtcagactgtCgcacagccggtagctgtcgt	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650235C>T	ENST00000576778.1	-	1	2356	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	GEMIN4_ENST00000319004.5_Missense_Mutation_p.D350N|GEMIN4_ENST00000437269.1_3'UTR			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	350					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GTCAGACTGTCGCACAGCCGG	0.637													False	0	False	17:650235	0	T	650235	C	T	650235	3	4	88	1	0	0	0	0	1	0	0	0	6375	884	31	1	2132	1	GEMIN4	17	650235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2082	650235	80544975	16061	23773											
GEMIN4	50628	broad.mit.edu	37	chr17	650531	650531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggtcgtcctctgtcagcGcaaacacagtcagcatgtca	12	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650531G>A	ENST00000576778.1	-	1	2060	c.719C>T	c.(718-720)gCg>gTg	p.A240V	GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V|GEMIN4_ENST00000437269.1_Intron			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	251					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607													False	0	False	17:650531	0	A	650531	G	A	650531	3	1	88	1	0	0	0	0	1	0	0	0	6375	1087	38	1	2428	1	GEMIN4	17	650531	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296	650531	80544679	16062	23774											
GEMIN4	50628	broad.mit.edu	37	chr17	650572	650572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggttggccagcgcacaGcacttcctccccgggcccag	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650572G>A	ENST00000576778.1	-	1	2019	c.678C>T	c.(676-678)tgC>tgT	p.C226C	GEMIN4_ENST00000319004.5_Silent_p.C237C|GEMIN4_ENST00000437269.1_Intron			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	237					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCAGCGCACAGCACTTCCTCC	0.637													False	0	False	17:650572	0	A	650572	G	A	650572	2	1	88	1	0	0	0	0	0	0	0	1	6375	963	34	2		2	GEMIN4	17	650572	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41	650572	80544638	16063	23775											
TIMM22	29928	broad.mit.edu	37	chr17	902750	902750	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtacttccctgcccacAgtaccggggaacatcagact	9	14	1	1	rs141823779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:902750A>G	ENST00000327158.4	+	3	461		c.e3-1			NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)						transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCCTGCCCACAGTACCGGGGA	0.502													False	0	False	17:902750	0	G	902750	A	G	902750	5	3	88	1	0	0	0	0	0	0	1	0	15992	202	7	4	444	4	TIMM22	17	902750	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	252178	902750	80292460	16064	23776											
ABR	29	broad.mit.edu	37	chr17	994935	994935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaggtggcccatggtgacCtggctgtcccactgttgcac	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:994935C>A	ENST00000544583.2	-	4	962	c.363G>T	c.(361-363)caG>caT	p.Q121H	ABR_ENST00000291107.2_Missense_Mutation_p.Q130H|ABR_ENST00000302538.5_Missense_Mutation_p.Q167H|ABR_ENST00000574437.1_Missense_Mutation_p.Q121H	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	167	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCATGGTGACCTGGCTGTCCC	0.562													False	0	False	17:994935	0	A	994935	C	A	994935	3	1	88	1	0	0	0	0	1	0	0	0	99	680	24	3	2158	3	ABR	17	994935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92185	994935	80200275	16065	23777											
YWHAE	7531	broad.mit.edu	37	chr17	1257631	1257631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgcatcatcaaaagctgCttttgccaacctaaaggtat	6	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1257631C>T	ENST00000264335.8	-	5	856	c.589G>A	c.(589-591)Gca>Aca	p.A197T	YWHAE_ENST00000571732.1_Missense_Mutation_p.A175T|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide	197					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TCAAAAGCTGCTTTTGCCAAC	0.348			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						False	0	True	17:1257631	0	T	1257631	C	T	1257631	3	4	88	1	0	0	0	0	1	0	0	0	17586	797	28	2	186	2	YWHAE	17	1257631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262696	1257631	79937579	16066	23778											
YWHAE	7531	broad.mit.edu	37	chr17	1264567	1264567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcctgtggcaaattctgCcagatacctgtggtagtccc	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1264567C>T	ENST00000264335.8	-	4	664	c.397G>A	c.(397-399)Gca>Aca	p.A133T	YWHAE_ENST00000571732.1_Missense_Mutation_p.A111T|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide	133					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GCAAATTCTGCCAGATACCTG	0.373			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						False	0	False	17:1264567	0	T	1264567	C	T	1264567	3	4	88	1	0	0	0	0	1	0	0	0	17586	739	26	2	382	2	YWHAE	17	1264567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6936	1264567	79930643	16067	23779											
CRK	1398	broad.mit.edu	37	chr17	1340290	1340290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggctcgcacatactccGcctcctcctgcctgagaatc	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1340290G>A	ENST00000300574.2	-	2	541	c.401C>T	c.(400-402)gCg>gTg	p.A134V	CRK_ENST00000398970.5_Missense_Mutation_p.A134V|CRK_ENST00000574295.1_Splice_Site|CRK_ENST00000572145.1_5'UTR	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	134	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CACATACTCCGCCTCCTCCTG	0.463													False	0	True	17:1340290	0	A	1340290	G	A	1340290	3	1	88	1	0	0	0	0	1	0	0	0	3907	1087	38	1	521	1	CRK	17	1340290	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75723	1340290	79854920	16068	23780											
MYO1C	4641	broad.mit.edu	37	chr17	1381256	1381256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgttgttgaaatactggaCgggctcccactgaggggcag	14	8	0	2	rs147805425	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1381256C>T	ENST00000359786.5	-	13	1735	c.1411G>A	c.(1411-1413)Gtc>Atc	p.V471I	MYO1C_ENST00000438665.2_Missense_Mutation_p.V452I|MYO1C_ENST00000575158.1_Missense_Mutation_p.V436I|MYO1C_ENST00000361007.2_Missense_Mutation_p.V436I|MYO1C_ENST00000545534.2_Missense_Mutation_p.V447I	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	471	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAATACTGGACGGGCTCCCAC	0.592													False	0	True	17:1381256	0	T	1381256	C	T	1381256	3	4	88	1	0	0	0	0	1	0	0	0	10137	536	19	1	1860	1	MYO1C	17	1381256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40966	1381256	79813954	16069	23781											
MYO1C	4641	broad.mit.edu	37	chr17	1381754	1381754	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatccaggagcccgagaacCgtggtgctccgccagctggg	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1381754C>T	ENST00000359786.5	-	11	1569	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	MYO1C_ENST00000438665.2_Silent_p.T396T|MYO1C_ENST00000575158.1_Silent_p.T380T|MYO1C_ENST00000361007.2_Silent_p.T380T|MYO1C_ENST00000545534.2_Silent_p.T391T	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	415	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCGAGAACCGTGGTGCTCC	0.637													False	0	False	17:1381754	0	T	1381754	C	T	1381754	2	4	88	1	0	0	0	0	0	0	0	1	10137	639	23	1		1	MYO1C	17	1381754	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	498	1381754	79813456	16070	23782											
PITPNA	5306	broad.mit.edu	37	chr17	1438814	1438814	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcctctgccttgtaatccTgagagaaattgtggaattgg	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1438814T>C	ENST00000313486.7	-	8	712		c.e8-2		PITPNA_ENST00000539476.1_Splice_Site	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha						axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		CTTGTAATCCTGAGAGAAATT	0.478													False	0	True	17:1438814	0	C	1438814	T	C	1438814	5	2	88	1	0	0	0	0	0	0	1	0	12016	1594	55	4	373	4	PITPNA	17	1438814	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57060	1438814	79756396	16071	23783											
SLC43A2	124935	broad.mit.edu	37	chr17	1479048	1479048	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggctgagaaggagcagCcccacgttcacctggggagg	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1479048C>T	ENST00000301335.5	-	14	1648	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G	SLC43A2_ENST00000412517.3_Silent_p.G383G|SLC43A2_ENST00000571650.1_Silent_p.G524G|SLC43A2_ENST00000382147.4_Silent_p.G524G	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2						cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GAAGGAGCAGCCCCACGTTCA	0.682													False	0	True	17:1479048	0	T	1479048	C	T	1479048	2	4	88	1	0	0	0	0	0	0	0	1	14713	726	26	2		2	SLC43A2	17	1479048	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40234	1479048	79716162	16072	23784											
SLC43A2	124935	broad.mit.edu	37	chr17	1494748	1494748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtcaaagcccagccagCtgaacttgatcttcaccctg	9	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1494748C>T	ENST00000301335.5	-	8	834	c.746G>A	c.(745-747)aGc>aAc	p.S249N	SLC43A2_ENST00000412517.3_Missense_Mutation_p.S112N|SLC43A2_ENST00000571650.1_Missense_Mutation_p.S249N|SLC43A2_ENST00000382147.4_Missense_Mutation_p.S249N|SLC43A2_ENST00000574274.1_5'UTR	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2						cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCCCAGCCAGCTGAACTTGAT	0.687													False	0	True	17:1494748	0	T	1494748	C	T	1494748	3	4	88	1	0	0	0	0	1	0	0	0	14713	797	28	2	991	2	SLC43A2	17	1494748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15700	1494748	79700462	16073	23785											
SLC43A2	124935	broad.mit.edu	37	chr17	1519929	1519929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagggtgatggcactgaGcagaaaggagcccacagtga	17	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1519929G>A	ENST00000301335.5	-	3	383	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	SLC43A2_ENST00000571650.1_Missense_Mutation_p.L99F|SLC43A2_ENST00000382147.4_Missense_Mutation_p.L99F	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2						cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		ATGGCACTGAGCAGAAAGGAG	0.622													False	0	False	17:1519929	0	A	1519929	G	A	1519929	3	1	88	1	0	0	0	0	1	0	0	0	14713	971	34	2	1462	2	SLC43A2	17	1519929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25181	1519929	79675281	16074	23786											
SCARF1	8578	broad.mit.edu	37	chr17	1538795	1538795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaccgatggccgcttggcccGagctaggctggaggtgcgcg	18	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1538795G>A	ENST00000263071.4	-	11	1799	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.R498W	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	584	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCTTGGCCCGAGCTAGGCTG	0.672													False	0	True	17:1538795	0	A	1538795	G	A	1538795	3	1	88	1	0	0	0	0	1	0	0	0	13963	1057	37	1	746	1	SCARF1	17	1538795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18866	1538795	79656415	16075	23787											
PRPF8	10594	broad.mit.edu	37	chr17	1563232	1563232	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcatcttatatgactttcGgggatggattgtctcctttt	9	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1563232G>A	ENST00000572621.1	-	30	5114	c.4849C>T	c.(4849-4851)Cga>Tga	p.R1617*	PRPF8_ENST00000304992.6_Nonsense_Mutation_p.R1617*			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1617						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TATGACTTTCGGGGATGGATT	0.448													False	0	True	17:1563232	0	A	1563232	G	A	1563232	4	1	88	1	0	0	0	0	0	1	0	0	12651	1124	39	1	2210	1	PRPF8	17	1563232	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24437	1563232	79631978	16076	23788											
PRPF8	10594	broad.mit.edu	37	chr17	1563837	1563837	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccgtgcatgaagataccCgtcaggtctagctgcacctg	11	12	2	2	rs140446903	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1563837C>T	ENST00000572621.1	-	29	4939	c.4674G>A	c.(4672-4674)acG>acA	p.T1558T	PRPF8_ENST00000304992.6_Silent_p.T1558T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1558						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGAAGATACCCGTCAGGTCTA	0.498													False	0	True	17:1563837	0	T	1563837	C	T	1563837	2	4	88	1	0	0	0	0	0	0	0	1	12651	639	23	1		1	PRPF8	17	1563837	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605	1563837	79631373	16077	23789											
PRPF8	10594	broad.mit.edu	37	chr17	1576444	1576444	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggaagcgctgcattgaCtcatcgtccacacgcaggaa	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1576444C>T	ENST00000572621.1	-	23	3970	c.3705G>A	c.(3703-3705)gaG>gaA	p.E1235E	PRPF8_ENST00000304992.6_Silent_p.E1235E			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1235						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTGCATTGACTCATCGTCCA	0.542													False	0	False	17:1576444	0	T	1576444	C	T	1576444	2	4	88	1	0	0	0	0	0	0	0	1	12651	564	20	2		2	PRPF8	17	1576444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12607	1576444	79618766	16078	23790											
PRPF8	10594	broad.mit.edu	37	chr17	1585273	1585273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcatcaaaagggggaaaaCgcatcctcttgaaatgcctc	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1585273C>T	ENST00000572621.1	-	4	759	c.494G>A	c.(493-495)cGt>cAt	p.R165H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R165H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	165						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGGGGGAAAACGCATCCTCTT	0.502													False	0	True	17:1585273	0	T	1585273	C	T	1585273	3	4	88	1	0	0	0	0	1	0	0	0	12651	536	19	1	6669	1	PRPF8	17	1585273	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8829	1585273	79609937	16079	23791											
SERPINF2	5345	broad.mit.edu	37	chr17	1652003	1652003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgcacgtacccgctgcGctggttcttgctggagcagc	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1652003G>A	ENST00000324015.3	+	8	904	c.827G>A	c.(826-828)cGc>cAc	p.R276H	SERPINF2_ENST00000450523.2_Missense_Mutation_p.R212H|SERPINF2_ENST00000382061.4_Missense_Mutation_p.R276H	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	276					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TACCCGCTGCGCTGGTTCTTG	0.622													False	0	True	17:1652003	0	A	1652003	G	A	1652003	3	1	88	1	0	0	0	0	1	0	0	0	14196	1087	38	1	863	1	SERPINF2	17	1652003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66730	1652003	79543207	16080	23792											
SERPINF2	5345	broad.mit.edu	37	chr17	1657648	1657648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccctcttcgtgggcagCgtgaggaaccccaaccccag	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1657648C>T	ENST00000324015.3	+	10	1373	c.1296C>T	c.(1294-1296)agC>agT	p.S432S	SERPINF2_ENST00000450523.2_Silent_p.S368S|SERPINF2_ENST00000382061.4_Silent_p.S432S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	432					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TCGTGGGCAGCGTGAGGAACC	0.622													False	0	False	17:1657648	0	T	1657648	C	T	1657648	2	4	88	1	0	0	0	0	0	0	0	1	14196	767	27	1		1	SERPINF2	17	1657648	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5645	1657648	79537562	16081	23793											
SMYD4	114826	broad.mit.edu	37	chr17	1686706	1686706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatctctcccaccacggcGtgctctgcccacaggaagct	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1686706G>A	ENST00000305513.7	-	9	2252	c.2085C>T	c.(2083-2085)caC>caT	p.H695H		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	695							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CCACCACGGCGTGCTCTGCCC	0.622													False	0	False	17:1686706	0	A	1686706	G	A	1686706	2	1	88	1	0	0	0	0	0	0	0	1	14904	1136	40	1		1	SMYD4	17	1686706	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29058	1686706	79508504	16082	23794											
RPA1	6117	broad.mit.edu	37	chr17	1780550	1780550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacaaaagtcagatccgtaCctggagcaactcccgagggg	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1780550C>T	ENST00000254719.5	+	8	742	c.632C>T	c.(631-633)aCc>aTc	p.T211I	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	211					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						CAGATCCGTACCTGGAGCAAC	0.493								Nucleotide excision repair (NER)					False	0	False	17:1780550	0	T	1780550	C	T	1780550	3	4	88	1	0	0	0	0	1	0	0	0	13615	507	18	2	662	2	RPA1	17	1780550	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93844	1780550	79414660	16083	23795											
DPH1	1801	broad.mit.edu	37	chr17	1943631	1943631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctggggccttattctggGcactttgggccgccagggca	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1943631G>A	ENST00000263083.6	+	8	929	c.884G>A	c.(883-885)gGc>gAc	p.G295D	DPH1_ENST00000570477.1_Missense_Mutation_p.G215D	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	295					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CTTATTCTGGGCACTTTGGGC	0.592													False	0	True	17:1943631	0	A	1943631	G	A	1943631	3	1	88	1	0	0	0	0	1	0	0	0	4749	1203	42	2	914	2	DPH1	17	1943631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163081	1943631	79251579	16084	23796											
DPH1	1801	broad.mit.edu	37	chr17	1943817	1943817	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacctggaatctcgactcCgagccttgggcctttccttt	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1943817C>T	ENST00000263083.6	+	9	985	c.940C>T	c.(940-942)Cga>Tga	p.R314*	DPH1_ENST00000570477.1_Nonsense_Mutation_p.R234*	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	314					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATCTCGACTCCGAGCCTTGGG	0.577													False	0	False	17:1943817	0	T	1943817	C	T	1943817	4	4	88	1	0	0	0	0	0	1	0	0	4749	644	23	1	974	1	DPH1	17	1943817	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186	1943817	79251393	16085	23797											
OVCA2	124641	broad.mit.edu	37	chr17	1946353	1946353	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcattccagcagctgcaccCcagcgtcaggcctacctcaa	7	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1946353C>A	ENST00000572195.1	+	2	654	c.639C>A	c.(637-639)ccC>ccA	p.P213P	RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	213					response to retinoic acid	cytoplasm	hydrolase activity										CAGCTGCACCCCAGCGTCAGG	0.562											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	17:1946353	0	A	1946353	C	A	1946353	2	1	88	1	0	0	0	0	0	0	0	1	11390	610	22	3		3	OVCA2	17	1946353	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2536	1946353	79248857	16086	23798											
HIC1	3090	broad.mit.edu	37	chr17	1960076	1960076	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcttgtgcgacgtgaTcatcgtggtgcagaacgccc	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960076T>C	ENST00000399849.3	+	2	252	c.92T>C	c.(91-93)aTc>aCc	p.I31T	HIC1_ENST00000322941.3_Missense_Mutation_p.I50T	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1						multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		TGCGACGTGATCATCGTGGTG	0.637													False	0	False	17:1960076	0	C	1960076	T	C	1960076	3	2	88	1	0	0	0	0	1	0	0	0	7148	1435	50	4	155	4	HIC1	17	1960076	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13723	1960076	79235134	16087	23799											
HIC1	3090	broad.mit.edu	37	chr17	1960163	1960163	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtccctggtggtgcatgAcaacctgctcaacctggacc	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960163A>C	ENST00000399849.3	+	2	339	c.179A>C	c.(178-180)gAc>gCc	p.D60A	HIC1_ENST00000322941.3_Missense_Mutation_p.D79A	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1		BTB.				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GTGGTGCATGACAACCTGCTC	0.642													False	0	False	17:1960163	0	C	1960163	A	C	1960163	3	2	88	1	0	0	0	0	1	0	0	0	7148	275	10	4	242	4	HIC1	17	1960163	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	87	1960163	79235047	16088	23800											
SMG6	23293	broad.mit.edu	37	chr17	1968799	1968799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcactgcggaaggcgatgGattcgagttcattgccacgg	13	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1968799G>A	ENST00000544865.1	-	17	4427	c.3917C>T	c.(3916-3918)tCc>tTc	p.S1306F	SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000354901.4_Missense_Mutation_p.S429F|SMG6_ENST00000263073.6_Missense_Mutation_p.S1337F|SMG6_ENST00000536871.2_Missense_Mutation_p.S429F			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1337	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGGCGATGGATTCGAGTTC	0.597													False	0	False	17:1968799	0	A	1968799	G	A	1968799	3	1	88	1	0	0	0	0	1	0	0	0	14877	1174	41	2	261	2	SMG6	17	1968799	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8636	1968799	79226411	16089	23801											
SMG6	23293	broad.mit.edu	37	chr17	2076037	2076037	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaagccgatcctcttccAggataagaagggtgaggtca	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2076037A>G	ENST00000544865.1	-	13	3689	c.3179T>C	c.(3178-3180)cTg>cCg	p.L1060P	SMG6_ENST00000354901.4_Missense_Mutation_p.L183P|SMG6_ENST00000263073.6_Missense_Mutation_p.L1091P|SMG6_ENST00000536871.2_Missense_Mutation_p.L183P			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1091					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATCCTCTTCCAGGATAAGAAG	0.562													False	0	False	17:2076037	0	G	2076037	A	G	2076037	3	3	88	1	0	0	0	0	1	0	0	0	14877	188	7	4	1015	4	SMG6	17	2076037	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	107238	2076037	79119173	16090	23802											
SMG6	23293	broad.mit.edu	37	chr17	2139876	2139876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagaggggctgtgctgcaGtaacacctggaactccttga	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2139876G>A	ENST00000544865.1	-	10	3196	c.2686C>T	c.(2686-2688)Ctg>Ttg	p.L896L	SMG6_ENST00000354901.4_Silent_p.L19L|SMG6_ENST00000263073.6_Silent_p.L927L|SMG6_ENST00000536871.2_Silent_p.L19L			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	927					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGTGCTGCAGTAACACCTGG	0.507													False	0	False	17:2139876	0	A	2139876	G	A	2139876	2	1	88	1	0	0	0	0	0	0	0	1	14877	1020	36	2		2	SMG6	17	2139876	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63839	2139876	79055334	16091	23803											
SMG6	23293	broad.mit.edu	37	chr17	2139898	2139898	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacacctggaactccttgagGaccttctcagccactgcagg	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2139898G>A	ENST00000544865.1	-	10	3174	c.2664C>T	c.(2662-2664)gtC>gtT	p.V888V	SMG6_ENST00000354901.4_Silent_p.V11V|SMG6_ENST00000263073.6_Silent_p.V919V|SMG6_ENST00000536871.2_Silent_p.V11V			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	919					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTCCTTGAGGACCTTCTCAG	0.502													False	0	False	17:2139898	0	A	2139898	G	A	2139898	2	1	88	1	0	0	0	0	0	0	0	1	14877	1161	41	2		2	SMG6	17	2139898	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	2139898	79055312	16092	23804											
SMG6	23293	broad.mit.edu	37	chr17	2202719	2202719	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccacggccccaactccgaGatcccttactaccagatcca	5	19	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2202719G>T	ENST00000544865.1	-	2	1745	c.1235C>A	c.(1234-1236)tCt>tAt	p.S412Y	SMG6_ENST00000263073.6_Missense_Mutation_p.S443Y			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	443	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAACTCCGAGATCCCTTACT	0.537													False	0	False	17:2202719	0	T	2202719	G	T	2202719	3	4	88	1	0	0	0	0	1	0	0	0	14877	942	33	3	3003	3	SMG6	17	2202719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62821	2202719	78992491	16093	23805											
SMG6	23293	broad.mit.edu	37	chr17	2202763	2202763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagccgaggtcccaaaggCgcggactctggagaacctgc	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2202763C>T	ENST00000544865.1	-	2	1701	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A	SMG6_ENST00000263073.6_Silent_p.A428A			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	428	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCCAAAGGCGCGGACTCTG	0.547													False	0	False	17:2202763	0	T	2202763	C	T	2202763	2	4	88	1	0	0	0	0	0	0	0	1	14877	755	27	1		1	SMG6	17	2202763	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44	2202763	78992447	16094	23806											
SMG6	23293	broad.mit.edu	37	chr17	2203925	2203925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacgcctgttatctttgCgcggcctggcctcctttaat	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2203925C>T	ENST00000544865.1	-	2	539	c.29G>A	c.(28-30)cGc>cAc	p.R10H	SMG6_ENST00000263073.6_Missense_Mutation_p.R41H			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	41					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTTATCTTTGCGCGGCCTGGC	0.473													False	0	False	17:2203925	0	T	2203925	C	T	2203925	3	4	88	1	0	0	0	0	1	0	0	0	14877	768	27	1	4209	1	SMG6	17	2203925	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1162	2203925	78991285	16095	23807											
SRR	63826	broad.mit.edu	37	chr17	2224884	2224884	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaggtggaggaggaatgCttgctggaatagcaattaca	14	5	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2224884C>A	ENST00000344595.5	+	6	886	c.568C>A	c.(568-570)Ctt>Att	p.L190I	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	190					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGGAGGAATGCTTGCTGGAAT	0.388													False	0	True	17:2224884	0	A	2224884	C	A	2224884	3	1	88	1	0	0	0	0	1	0	0	0	15248	797	28	3	586	3	SRR	17	2224884	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20959	2224884	78970326	16096	23808											
SRR	63826	broad.mit.edu	37	chr17	2226545	2226545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatcctccagaaaccatagCagatggtgtcaaatccagca	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2226545C>T	ENST00000344595.5	+	7	1028	c.710C>T	c.(709-711)gCa>gTa	p.A237V	SRR_ENST00000576848.1_Missense_Mutation_p.A11V|TSR1_ENST00000301364.5_3'UTR	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	237					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GAAACCATAGCAGATGGTGTC	0.463													False	0	False	17:2226545	0	T	2226545	C	T	2226545	3	4	88	1	0	0	0	0	1	0	0	0	15248	710	25	2	732	2	SRR	17	2226545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1661	2226545	78968665	16097	23809											
SRR	63826	broad.mit.edu	37	chr17	2227000	2227000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactactcattgaacctacaGctggtgttggagtggctgct	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2227000G>A	ENST00000344595.5	+	8	1174	c.856G>A	c.(856-858)Gct>Act	p.A286T	SRR_ENST00000576848.1_Missense_Mutation_p.A60T|TSR1_ENST00000301364.5_3'UTR	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	286					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGAACCTACAGCTGGTGTTGG	0.453													False	0	False	17:2227000	0	A	2227000	G	A	2227000	3	1	88	1	0	0	0	0	1	0	0	0	15248	971	34	2	882	2	SRR	17	2227000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	455	2227000	78968210	16098	23810											
SGSM2	9905	broad.mit.edu	37	chr17	2265527	2265527	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cggcgctcatcgagaaagttCtggacaaggtcgtgcaatac	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2265527C>A	ENST00000268989.3	+	4	598	c.421C>A	c.(421-423)Ctg>Atg	p.L141M	SGSM2_ENST00000426855.2_Missense_Mutation_p.L141M|SGSM2_ENST00000574563.1_Missense_Mutation_p.L141M	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	141	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGAGAAAGTTCTGGACAAGGT	0.627													False	0	False	17:2265527	0	A	2265527	C	A	2265527	3	1	88	1	0	0	0	0	1	0	0	0	14304	912	32	3	435	3	SGSM2	17	2265527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38527	2265527	78929683	16099	23811											
SGSM2	9905	broad.mit.edu	37	chr17	2281186	2281186	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgtttgagctgatgcatcaGaatggagactacacccactt	9	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2281186G>T	ENST00000268989.3	+	22	3015	c.2838G>T	c.(2836-2838)caG>caT	p.Q946H	SGSM2_ENST00000426855.2_Missense_Mutation_p.Q901H|SGSM2_ENST00000574563.1_Missense_Mutation_p.Q901H|RP1-59D14.5_ENST00000574290.1_RNA	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	901						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TGATGCATCAGAATGGAGACT	0.537													False	0	False	17:2281186	0	T	2281186	G	T	2281186	3	4	88	1	0	0	0	0	1	0	0	0	14304	933	33	3	2924	3	SGSM2	17	2281186	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15659	2281186	78914024	16100	23812											
SGSM2	9905	broad.mit.edu	37	chr17	2282335	2282335	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttactctccgcagaactgCtgtatgaggatgtgtttgct	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2282335C>T	ENST00000268989.3	+	23	3082	c.2905C>T	c.(2905-2907)Ctg>Ttg	p.L969L	SGSM2_ENST00000426855.2_Silent_p.L924L|SGSM2_ENST00000574563.1_Silent_p.L924L|RP1-59D14.5_ENST00000574290.1_RNA	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	924						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGCAGAACTGCTGTATGAGGA	0.607													False	0	False	17:2282335	0	T	2282335	C	T	2282335	2	4	88	1	0	0	0	0	0	0	0	1	14304	796	28	2		2	SGSM2	17	2282335	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1149	2282335	78912875	16101	23813											
SGSM2	9905	broad.mit.edu	37	chr17	2282760	2282760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgatgcccaggagatcctGcggattgcccgggacctcgt	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2282760G>A	ENST00000268989.3	+	24	3279	c.3102G>A	c.(3100-3102)ctG>ctA	p.L1034L	SGSM2_ENST00000426855.2_Silent_p.L989L|SGSM2_ENST00000574563.1_Intron	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	989						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGGAGATCCTGCGGATTGCCC	0.622													False	0	False	17:2282760	0	A	2282760	G	A	2282760	2	1	88	1	0	0	0	0	0	0	0	1	14304	1306	46	2		2	SGSM2	17	2282760	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	425	2282760	78912450	16102	23814											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2576029	2576029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctcaagggataaaactataAaaatgtgggaagtgcaaact	9	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2576029A>C	ENST00000397195.5	+	7	1100	c.649A>C	c.(649-651)Aaa>Caa	p.K217Q	PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K46Q|PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	217	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TAAAACTATAAAAATGTGGGA	0.463													False	0	True	17:2576029	0	C	2576029	A	C	2576029	3	2	88	1	0	0	0	0	1	0	0	0	11452	15	1	4	671	4	PAFAH1B1	17	2576029	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	293269	2576029	78619181	16103	23815											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2898752	2898752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatttaccgacggagacGcccagcaggtaacctggttt	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2898752G>A	ENST00000254695.8	+	13	1126	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.A346T|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.A331T|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.A327T	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	346	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CGACGGAGACGCCCAGCAGGT	0.607													False	0	True	17:2898752	0	A	2898752	G	A	2898752	3	1	88	1	0	0	0	0	1	0	0	0	13117	1087	38	1	1086	1	RAP1GAP2	17	2898752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	322723	2898752	78296458	16104	23816											
OR1D2	4991	broad.mit.edu	37	chr17	2995640	2995640	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctctgataatcagcacataGgaaatgatcacgaatccaaa	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2995640G>T	ENST00000331459.1	-	1	650	c.651C>A	c.(649-651)tcC>tcA	p.S217S		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	217					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TCAGCACATAGGAAATGATCA	0.468													False	0	False	17:2995640	0	T	2995640	G	T	2995640	2	4	88	1	0	0	0	0	0	0	0	1	11021	987	35	3		3	OR1D2	17	2995640	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96888	2995640	78199570	16105	23817											
OR1E1	8387	broad.mit.edu	37	chr17	3300833	3300833	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgtctctgttcctcaggCtgtagatgaaggggttcagc	12	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3300833C>A	ENST00000322608.2	-	1	871	c.872G>T	c.(871-873)aGc>aTc	p.S291I		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GTTCCTCAGGCTGTAGATGAA	0.443													False	0	False	17:3300833	0	A	3300833	C	A	3300833	3	1	88	1	0	0	0	0	1	0	0	0	11022	797	28	3	76	3	OR1E1	17	3300833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	305193	3300833	77894377	16106	23818											
OR1E1	8387	broad.mit.edu	37	chr17	3301258	3301258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcatggaaggtggtcagcacCcaggacagcgccaccagggc	15	13	1	0	rs145403333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3301258C>A	ENST00000322608.2	-	1	446	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						TGGTCAGCACCCAGGACAGCG	0.547													False	0	True	17:3301258	0	A	3301258	C	A	3301258	3	1	88	1	0	0	0	0	1	0	0	0	11022	624	22	3	501	3	OR1E1	17	3301258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	425	3301258	77893952	16107	23819											
SPATA22	84690	broad.mit.edu	37	chr17	3343532	3343532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttgttcagaaacagacGccggtctgacagaaacacat	8	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3343532G>A	ENST00000573128.1	-	9	1484	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	SPATA22_ENST00000397168.3_Missense_Mutation_p.A334V|SPATA22_ENST00000572969.1_Missense_Mutation_p.A334V|SPATA22_ENST00000541913.1_Missense_Mutation_p.A318V|SPATA22_ENST00000355380.4_Missense_Mutation_p.A291V|SPATA22_ENST00000575375.1_Missense_Mutation_p.A334V			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	334										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						AGAAACAGACGCCGGTCTGAC	0.378													False	0	False	17:3343532	0	A	3343532	G	A	3343532	3	1	88	1	0	0	0	0	1	0	0	0	15090	1087	38	1	94	1	SPATA22	17	3343532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42274	3343532	77851678	16108	23820											
SPATA22	84690	broad.mit.edu	37	chr17	3346538	3346538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcttcgaataatatgggCcaggtgtaacagctgaatca	10	7	2	1	rs139946072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3346538C>T	ENST00000573128.1	-	8	1313	c.830G>A	c.(829-831)gGc>gAc	p.G277D	SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000397168.3_Missense_Mutation_p.G277D|SPATA22_ENST00000572969.1_Missense_Mutation_p.G277D|SPATA22_ENST00000541913.1_Missense_Mutation_p.G261D|SPATA22_ENST00000355380.4_Missense_Mutation_p.G234D|SPATA22_ENST00000575375.1_Missense_Mutation_p.G277D			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	277										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						ATAATATGGGCCAGGTGTAAC	0.348													False	0	True	17:3346538	0	T	3346538	C	T	3346538	3	4	88	1	0	0	0	0	1	0	0	0	15090	739	26	2	269	2	SPATA22	17	3346538	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3006	3346538	77848672	16109	23821											
TRPV3	162514	broad.mit.edu	37	chr17	3430170	3430170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacaaagtggaaccaggcatCcgagaggatggactgcagat	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3430170C>T	ENST00000301365.4	-	12	1686	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	TRPV3_ENST00000572519.1_Missense_Mutation_p.D519N|TRPV3_ENST00000576742.1_Missense_Mutation_p.D519N			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	519						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AACCAGGCATCCGAGAGGATG	0.572													False	0	False	17:3430170	0	T	3430170	C	T	3430170	3	4	88	1	0	0	0	0	1	0	0	0	16680	855	30	2	845	2	TRPV3	17	3430170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83632	3430170	77765040	16110	23822											
TRPV3	162514	broad.mit.edu	37	chr17	3435984	3435984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttggcggccagctgcagCggcgtgaggccatcgttgtt	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3435984C>T	ENST00000301365.4	-	8	1163	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	TRPV3_ENST00000572519.1_Silent_p.P344P|TRPV3_ENST00000576742.1_Silent_p.P344P			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	344						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCAGCTGCAGCGGCGTGAGGC	0.632													False	0	False	17:3435984	0	T	3435984	C	T	3435984	2	4	88	1	0	0	0	0	0	0	0	1	16680	755	27	1		1	TRPV3	17	3435984	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5814	3435984	77759226	16111	23823											
TRPV1	7442	broad.mit.edu	37	chr17	3486644	3486644	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acgcttacccctcggaaaaaGaagtagactcctcctaacac	6	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3486644G>T	ENST00000174621.6	-	8	1747	c.1458C>A	c.(1456-1458)ttC>ttA	p.F486L	TRPV1_ENST00000310522.5_Missense_Mutation_p.F428L|TRPV1_ENST00000576351.1_Missense_Mutation_p.F478L|SHPK_ENST00000572705.1_Missense_Mutation_p.F488L|TRPV1_ENST00000425167.2_Missense_Mutation_p.F499L|TRPV1_ENST00000571088.1_Missense_Mutation_p.F488L|TRPV1_ENST00000399756.4_Missense_Mutation_p.F488L|TRPV1_ENST00000399759.3_Missense_Mutation_p.F488L			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	488					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTCGGAAAAAGAAGTAGACTC	0.433													False	0	True	17:3486644	0	T	3486644	G	T	3486644	3	4	88	1	0	0	0	0	1	0	0	0	16678	933	33	3	760	3	TRPV1	17	3486644	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50660	3486644	77708566	16112	23824											
TRPV1	7442	broad.mit.edu	37	chr17	3493604	3493604	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtccccatgggccgcagcCtggacgtctgctccgttctc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3493604C>A	ENST00000174621.6	-	4	970	c.681G>T	c.(679-681)caG>caT	p.Q227H	TRPV1_ENST00000310522.5_Missense_Mutation_p.Q229H|TRPV1_ENST00000576351.1_Missense_Mutation_p.Q229H|SHPK_ENST00000572705.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000425167.2_Missense_Mutation_p.Q229H|TRPV1_ENST00000571088.1_Missense_Mutation_p.Q229H|TRPV1_ENST00000399756.4_Missense_Mutation_p.Q229H|TRPV1_ENST00000399759.3_Missense_Mutation_p.Q229H			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	229					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GGGCCGCAGCCTGGACGTCTG	0.582													False	0	False	17:3493604	0	A	3493604	C	A	3493604	3	1	88	1	0	0	0	0	1	0	0	0	16678	680	24	3	1553	3	TRPV1	17	3493604	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6960	3493604	77701606	16113	23825											
TRPV1	7442	broad.mit.edu	37	chr17	3493618	3493618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcagcctggacgtctgctcCgttctccaccaggagggtca	12	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3493618C>T	ENST00000174621.6	-	4	956	c.667G>A	c.(667-669)Gga>Aga	p.G223R	TRPV1_ENST00000310522.5_Missense_Mutation_p.G225R|TRPV1_ENST00000576351.1_Missense_Mutation_p.G225R|SHPK_ENST00000572705.1_Missense_Mutation_p.G225R|TRPV1_ENST00000425167.2_Missense_Mutation_p.G225R|TRPV1_ENST00000571088.1_Missense_Mutation_p.G225R|TRPV1_ENST00000399756.4_Missense_Mutation_p.G225R|TRPV1_ENST00000399759.3_Missense_Mutation_p.G225R			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	225					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	ACGTCTGCTCCGTTCTCCACC	0.597													False	0	False	17:3493618	0	T	3493618	C	T	3493618	3	4	88	1	0	0	0	0	1	0	0	0	16678	661	23	1	1567	1	TRPV1	17	3493618	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14	3493618	77701592	16114	23826											
SHPK	23729	broad.mit.edu	37	chr17	3514153	3514153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcactgaggccagctggtCcggcaggtgcctctccccca	13	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3514153C>T	ENST00000225519.3	-	7	1240	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	380					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GCCAGCTGGTCCGGCAGGTGC	0.602													False	0	False	17:3514153	0	T	3514153	C	T	3514153	3	4	88	1	0	0	0	0	1	0	0	0	14371	855	30	2	302	2	SHPK	17	3514153	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20535	3514153	77681057	16115	23827											
CTNS	1497	broad.mit.edu	37	chr17	3559853	3559853	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctacagtgtattcaacatCggcctcctctgggtgcccta	9	14	2	0	rs113967200	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3559853C>T	ENST00000046640.3	+	8	1127	c.534C>T	c.(532-534)atC>atT	p.I178I	RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000441220.2_Silent_p.I70I|CTNS_ENST00000381870.3_Silent_p.I178I|CTNS_ENST00000414524.2_Silent_p.I31I	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	178	PQ-loop 1.				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TATTCAACATCGGCCTCCTCT	0.612													False	0	False	17:3559853	0	T	3559853	C	T	3559853	2	4	88	1	0	0	0	0	0	0	0	1	4046	874	31	1		1	CTNS	17	3559853	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45700	3559853	77635357	16116	23828											
GSG2	83903	broad.mit.edu	37	chr17	3628546	3628546	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcctcttggcactcctcCtctatgtatttgctaagccc	6	16	2	0	rs143089901	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3628546C>A	ENST00000325418.4	+	1	1336	c.1317C>A	c.(1315-1317)tcC>tcA	p.S439S	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	439					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										GGCACTCCTCCTCTATGTATT	0.463													False	0	True	17:3628546	0	A	3628546	C	A	3628546	2	1	88	1	0	0	0	0	0	0	0	1	6869	668	24	3		3	GSG2	17	3628546	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68693	3628546	77566664	16117	23829											
GSG2	83903	broad.mit.edu	37	chr17	3628844	3628844	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccagagatcatcatcTccaaagagttgagcctctta	7	12	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3628844T>C	ENST00000325418.4	+	1	1634	c.1615T>C	c.(1615-1617)Tcc>Ccc	p.S539P	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	539	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										GATCATCATCTCCAAAGAGTT	0.473													False	0	True	17:3628844	0	C	3628844	T	C	3628844	3	2	88	1	0	0	0	0	1	0	0	0	6869	1551	54	4	1617	4	GSG2	17	3628844	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	298	3628844	77566366	16118	23830											
ITGAE	3682	broad.mit.edu	37	chr17	3632827	3632827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagggtgtgggtctcgttggCcaaagaccgtctttcattgg	14	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3632827C>A	ENST00000263087.4	-	24	2955	c.2857G>T	c.(2857-2859)Gcc>Tcc	p.A953S	CTD-3195I5.4_ENST00000575043.1_RNA|ITGAE_ENST00000571185.1_Intron	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	953					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GTCTCGTTGGCCAAAGACCGT	0.493													False	0	False	17:3632827	0	A	3632827	C	A	3632827	3	1	88	1	0	0	0	0	1	0	0	0	7935	739	26	3	714	3	ITGAE	17	3632827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3983	3632827	77562383	16119	23831											
ITGAE	3682	broad.mit.edu	37	chr17	3646868	3646868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggtctggagctggtagCtgactttgacactggcattg	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3646868C>T	ENST00000263087.4	-	19	2461	c.2363G>A	c.(2362-2364)aGc>aAc	p.S788N		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	788					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAGCTGGTAGCTGACTTTGAC	0.577													False	0	False	17:3646868	0	T	3646868	C	T	3646868	3	4	88	1	0	0	0	0	1	0	0	0	7935	797	28	2	1228	2	ITGAE	17	3646868	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14041	3646868	77548342	16120	23832											
C17orf85	55421	broad.mit.edu	37	chr17	3716516	3716516	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggcgccctgtgatccactTtcttcgtattcttttctttg	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3716516T>G	ENST00000158149.3	-	14	1740	c.845A>C	c.(844-846)aAa>aCa	p.K282T	C17orf85_ENST00000389005.4_Missense_Mutation_p.K562T			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	562							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GTGATCCACTTTCTTCGTATT	0.502													False	0	True	17:3716516	0	G	3716516	T	G	3716516	3	3	88	1	0	0	0	0	1	0	0	0	1901	1841	64	4	181	4	C17orf85	17	3716516	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	69648	3716516	77478694	16121	23833											
C17orf85	55421	broad.mit.edu	37	chr17	3717766	3717766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggtctttttcctaaccGctggcgtatatctgaaaaaa	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3717766G>A	ENST00000158149.3	-	13	1532	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	C17orf85_ENST00000389005.4_Missense_Mutation_p.R493W			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	493							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		TTTCCTAACCGCTGGCGTATA	0.507													False	0	False	17:3717766	0	A	3717766	G	A	3717766	3	1	88	1	0	0	0	0	1	0	0	0	1901	1086	38	1	393	1	C17orf85	17	3717766	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1250	3717766	77477444	16122	23834											
C17orf85	55421	broad.mit.edu	37	chr17	3721599	3721599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacttcgtcagcatacataGtcattttcatgcttttcttt	4	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3721599G>T	ENST00000158149.3	-	11	1323	c.428C>A	c.(427-429)aCt>aAt	p.T143N	C17orf85_ENST00000389005.4_Missense_Mutation_p.T423N			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	423							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		AGCATACATAGTCATTTTCAT	0.338													False	0	True	17:3721599	0	T	3721599	G	T	3721599	3	4	88	1	0	0	0	0	1	0	0	0	1901	1029	36	3	610	3	C17orf85	17	3721599	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3833	3721599	77473611	16123	23835											
CAMKK1	84254	broad.mit.edu	37	chr17	3785616	3785616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagggagtggggcttgGcgatatttgttgaatctaac	15	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3785616G>A	ENST00000381771.2	-	8	881	c.734C>T	c.(733-735)gCc>gTc	p.A245V	CAMKK1_ENST00000381769.2_Intron|CAMKK1_ENST00000158166.5_Missense_Mutation_p.A245V|CAMKK1_ENST00000348335.2_Intron			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	228	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GTGGGGCTTGGCGATATTTGT	0.562													False	0	False	17:3785616	0	A	3785616	G	A	3785616	3	1	88	1	0	0	0	0	1	0	0	0	2626	1203	42	2	941	2	CAMKK1	17	3785616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64017	3785616	77409594	16124	23836											
P2RX1	5023	broad.mit.edu	37	chr17	3801339	3801339	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcctcagcgtatttgaacttCttctgcttgtagtagtgcct	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3801339C>T	ENST00000225538.3	-	11	1372	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	366					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		ATTTGAACTTCTTCTGCTTGT	0.607													False	0	False	17:3801339	0	T	3801339	C	T	3801339	2	4	88	1	0	0	0	0	0	0	0	1	11407	912	32	2		2	P2RX1	17	3801339	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15723	3801339	77393871	16125	23837											
ATP2A3	489	broad.mit.edu	37	chr17	3844772	3844772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtcgtccagctccatgtcCtccttccttgggggcgcgtc	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3844772C>T	ENST00000309890.7	-	13	1872	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	ATP2A3_ENST00000397035.3_Silent_p.E574E|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Silent_p.E574E|ATP2A3_ENST00000397043.3_Silent_p.E574E|ATP2A3_ENST00000397041.3_Silent_p.E574E|ATP2A3_ENST00000359983.3_Silent_p.E574E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	574					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTCCATGTCCTCCTTCCTTG	0.642													False	0	True	17:3844772	0	T	3844772	C	T	3844772	2	4	88	1	0	0	0	0	0	0	0	1	1142	680	24	2		2	ATP2A3	17	3844772	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43433	3844772	77350438	16126	23838											
ATP2A3	489	broad.mit.edu	37	chr17	3854899	3854899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacgcccacaatggcgttGgccacgaggatcagcatgat	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3854899G>A	ENST00000309890.7	-	4	450	c.300C>T	c.(298-300)gcC>gcT	p.A100A	ATP2A3_ENST00000397035.3_Silent_p.A100A|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Silent_p.A100A|ATP2A3_ENST00000397043.3_Silent_p.A100A|ATP2A3_ENST00000397041.3_Silent_p.A100A|ATP2A3_ENST00000359983.3_Silent_p.A100A	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	100					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CAATGGCGTTGGCCACGAGGA	0.687													False	0	False	17:3854899	0	A	3854899	G	A	3854899	2	1	88	1	0	0	0	0	0	0	0	1	1142	1335	47	2		2	ATP2A3	17	3854899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10127	3854899	77340311	16127	23839											
ZZEF1	23140	broad.mit.edu	37	chr17	3912991	3912991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgtcctcaaacaggccGtactccatgtgggtaaagag	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3912991G>A	ENST00000381638.2	-	53	8764	c.8640C>T	c.(8638-8640)taC>taT	p.Y2880Y		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2880							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAAACAGGCCGTACTCCATGT	0.612													False	0	False	17:3912991	0	A	3912991	G	A	3912991	2	1	88	1	0	0	0	0	0	0	0	1	18337	1140	40	1		1	ZZEF1	17	3912991	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58092	3912991	77282219	16128	23840											
ZZEF1	23140	broad.mit.edu	37	chr17	3916785	3916785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagaagtaagtggatgGcttttaatcgttgatggcca	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3916785G>A	ENST00000381638.2	-	52	8661	c.8537C>T	c.(8536-8538)gCc>gTc	p.A2846V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2846							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TAAGTGGATGGCTTTTAATCG	0.552													False	0	False	17:3916785	0	A	3916785	G	A	3916785	3	1	88	1	0	0	0	0	1	0	0	0	18337	1203	42	2	364	2	ZZEF1	17	3916785	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3794	3916785	77278425	16129	23841											
ZZEF1	23140	broad.mit.edu	37	chr17	3966072	3966072	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaatctttctgacaggtcaGaagttccaacaggaaaagta	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3966072G>T	ENST00000381638.2	-	30	4982	c.4858C>A	c.(4858-4860)Ctg>Atg	p.L1620M		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1620							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGACAGGTCAGAAGTTCCAAC	0.428													False	0	False	17:3966072	0	T	3966072	G	T	3966072	3	4	88	1	0	0	0	0	1	0	0	0	18337	933	33	3	4131	3	ZZEF1	17	3966072	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49287	3966072	77229138	16130	23842											
ZZEF1	23140	broad.mit.edu	37	chr17	3968016	3968016	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acgcttgttgagtggctggaGatgactggtttcatcagcag	14	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3968016G>T	ENST00000381638.2	-	29	4481	c.4357C>A	c.(4357-4359)Ctc>Atc	p.L1453I		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1453							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGTGGCTGGAGATGACTGGTT	0.493													False	0	False	17:3968016	0	T	3968016	G	T	3968016	3	4	88	1	0	0	0	0	1	0	0	0	18337	942	33	3	4636	3	ZZEF1	17	3968016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1944	3968016	77227194	16131	23843											
ZZEF1	23140	broad.mit.edu	37	chr17	3968078	3968078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgaacttatgcccgtgGgcagaaattttagtaataga	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3968078G>A	ENST00000381638.2	-	29	4419	c.4295C>T	c.(4294-4296)cCc>cTc	p.P1432L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1432							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TATGCCCGTGGGCAGAAATTT	0.393													False	0	True	17:3968078	0	A	3968078	G	A	3968078	3	1	88	1	0	0	0	0	1	0	0	0	18337	1232	43	2	4698	2	ZZEF1	17	3968078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	3968078	77227132	16132	23844											
ZZEF1	23140	broad.mit.edu	37	chr17	3977461	3977461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacggcgcacagacttgagcGccatgcactgggaagccagg	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3977461G>A	ENST00000381638.2	-	24	3792	c.3668C>T	c.(3667-3669)gCg>gTg	p.A1223V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1223							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGACTTGAGCGCCATGCACTG	0.597													False	0	False	17:3977461	0	A	3977461	G	A	3977461	3	1	88	1	0	0	0	0	1	0	0	0	18337	1087	38	1	5345	1	ZZEF1	17	3977461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9383	3977461	77217749	16133	23845											
ANKFY1	51479	broad.mit.edu	37	chr17	4085524	4085524	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccaatgcaagccacagCggggggttccccttctcatc	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4085524C>T	ENST00000341657.4	-	15	2108	c.2073G>A	c.(2071-2073)ccG>ccA	p.P691P	ANKFY1_ENST00000570535.1_Silent_p.P733P|ANKFY1_ENST00000574367.1_Silent_p.P692P|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	691						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CAAGCCACAGCGGGGGGTTCC	0.542													False	0	True	17:4085524	0	T	4085524	C	T	4085524	2	4	88	1	0	0	0	0	0	0	0	1	626	755	27	1		1	ANKFY1	17	4085524	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108063	4085524	77109686	16134	23846											
SPNS2	124976	broad.mit.edu	37	chr17	4436305	4436305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctccctggccacgtcGgctgtctccttcgccacggg	10	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4436305G>A	ENST00000329078.3	+	7	1179	c.969G>A	c.(967-969)tcG>tcA	p.S323S		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	323					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TGGCCACGTCGGCTGTCTCCT	0.667													False	0	False	17:4436305	0	A	4436305	G	A	4436305	2	1	88	1	0	0	0	0	0	0	0	1	15157	1103	39	1		1	SPNS2	17	4436305	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	350781	4436305	76758905	16135	23847											
SPNS2	124976	broad.mit.edu	37	chr17	4436361	4436361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcccgctctacctgcaccGcgcccaagttgtgcagaaga	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4436361G>A	ENST00000329078.3	+	7	1235	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	342					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TACCTGCACCGCGCCCAAGTT	0.701													False	0	False	17:4436361	0	A	4436361	G	A	4436361	3	1	88	1	0	0	0	0	1	0	0	0	15157	1087	38	1	1051	1	SPNS2	17	4436361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56	4436361	76758849	16136	23848											
MYBBP1A	10514	broad.mit.edu	37	chr17	4445963	4445963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactgtgagggggctgttgCgcttggtcaggaaggagctc	18	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4445963C>T	ENST00000254718.4	-	21	3272	c.2966G>A	c.(2965-2967)cGc>cAc	p.R989H	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R989H			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	989					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGGCTGTTGCGCTTGGTCAG	0.637													False	0	False	17:4445963	0	T	4445963	C	T	4445963	3	4	88	1	0	0	0	0	1	0	0	0	10075	768	27	1	1084	1	MYBBP1A	17	4445963	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9602	4445963	76749247	16137	23849											
MYBBP1A	10514	broad.mit.edu	37	chr17	4449013	4449013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgggccaacagggccagCaagatctccaccagcacctc	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4449013C>T	ENST00000254718.4	-	15	2271	c.1965G>A	c.(1963-1965)ttG>ttA	p.L655L	MYBBP1A_ENST00000381556.2_Silent_p.L655L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	655					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACAGGGCCAGCAAGATCTCCA	0.682													False	0	False	17:4449013	0	T	4449013	C	T	4449013	2	4	88	1	0	0	0	0	0	0	0	1	10075	709	25	2		2	MYBBP1A	17	4449013	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3050	4449013	76746197	16138	23850											
MYBBP1A	10514	broad.mit.edu	37	chr17	4455562	4455562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttcttcacagaggaggCggccatcttcagcacattca	9	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4455562C>T	ENST00000254718.4	-	7	1069	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A255T			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	255	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACAGAGGAGGCGGCCATCTTC	0.617													False	0	False	17:4455562	0	T	4455562	C	T	4455562	3	4	88	1	0	0	0	0	1	0	0	0	10075	768	27	1	3343	1	MYBBP1A	17	4455562	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6549	4455562	76739648	16139	23851											
ARRB2	409	broad.mit.edu	37	chr17	4619793	4619793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcaaagacctgttcatcGccacctaccaggccttcccc	6	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4619793G>A	ENST00000269260.2	+	5	480	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.A68T|ARRB2_ENST00000381488.6_Missense_Mutation_p.A68T|ARRB2_ENST00000575877.1_Missense_Mutation_p.A83T|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.A83T	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	83					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCTGTTCATCGCCACCTACCA	0.667													False	0	False	17:4619793	0	A	4619793	G	A	4619793	3	1	88	1	0	0	0	0	1	0	0	0	985	1087	38	1	265	1	ARRB2	17	4619793	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164231	4619793	76575417	16140	23852											
ARRB2	409	broad.mit.edu	37	chr17	4621244	4621244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagaaacccggcccccagCcttcagccgaaaccacacgc	9	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4621244C>T	ENST00000269260.2	+	8	780	c.547C>T	c.(547-549)Cct>Tct	p.P183S	ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.P168S|ARRB2_ENST00000381488.6_Missense_Mutation_p.P168S|ARRB2_ENST00000575877.1_Missense_Mutation_p.P183S|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.P204S	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	183					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CGGCCCCCAGCCTTCAGCCGA	0.627													False	0	False	17:4621244	0	T	4621244	C	T	4621244	3	4	88	1	0	0	0	0	1	0	0	0	985	739	26	2	577	2	ARRB2	17	4621244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1451	4621244	76573966	16141	23853											
CXCL16	58191	broad.mit.edu	37	chr17	4638392	4638392	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaggtccagtttacctggaGaggactgcggtgactgcccc	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4638392G>T	ENST00000293778.6	-	4	1192	c.770C>A	c.(769-771)tCt>tAt	p.S257Y	CXCL16_ENST00000576153.1_5'UTR|CXCL16_ENST00000574412.1_Missense_Mutation_p.S257Y	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	238					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						TTTACCTGGAGAGGACTGCGG	0.607													False	0	False	17:4638392	0	T	4638392	G	T	4638392	3	4	88	1	0	0	0	0	1	0	0	0	4108	942	33	3	59	3	CXCL16	17	4638392	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17148	4638392	76556818	16142	23854											
ZMYND15	84225	broad.mit.edu	37	chr17	4643940	4643940	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcagagcgtggagctgtaGggactagccttgagggccgc	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4643940G>T	ENST00000433935.1	+	2	154	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	ZMYND15_ENST00000592813.1_Missense_Mutation_p.G33W|ZMYND15_ENST00000269289.6_Missense_Mutation_p.G33W|ZMYND15_ENST00000573751.2_Missense_Mutation_p.G33W	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	33							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TGGAGCTGTAGGGACTAGCCT	0.582													False	0	True	17:4643940	0	T	4643940	G	T	4643940	3	4	88	1	0	0	0	0	1	0	0	0	17791	1000	35	3	99	3	ZMYND15	17	4643940	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5548	4643940	76551270	16143	23855											
VMO1	284013	broad.mit.edu	37	chr17	4689283	4689283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctaggacgttcccgcgcGcgcagtgcagcctgatccca	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4689283G>A	ENST00000328739.5	-	2	339	c.260C>T	c.(259-261)gCg>gTg	p.A87V	VMO1_ENST00000441199.2_Missense_Mutation_p.A87V|VMO1_ENST00000354194.4_Intron|VMO1_ENST00000416307.2_Missense_Mutation_p.A87V	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	87					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GTTCCCGCGCGCGCAGTGCAG	0.632													False	0	True	17:4689283	0	A	4689283	G	A	4689283	3	1	88	1	0	0	0	0	1	0	0	0	17261	1087	38	1	390	1	VMO1	17	4689283	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45343	4689283	76505927	16144	23856											
PLD2	5338	broad.mit.edu	37	chr17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttatcccggacttgggccGcaaaggactgtgagtgtctg	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567													False	0	False	17:4712837	0	A	4712837	G	A	4712837	3	1	88	1	0	0	0	0	1	0	0	0	12115	1087	38	1	627	1	PLD2	17	4712837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23554	4712837	76482373	16145	23857											
PLD2	5338	broad.mit.edu	37	chr17	4720350	4720350	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgctggaacttcaccaaGgtgttcattccctccgatag	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4720350G>A	ENST00000263088.6	+	16	1832	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K	PLD2_ENST00000572940.1_Splice_Site_p.K567K	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	567	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACTTCACCAAGGTGTTCATTC	0.647													False	0	False	17:4720350	0	A	4720350	G	A	4720350	5	1	88	1	0	0	0	0	0	0	1	0	12115	1014	35	2	1759	2	PLD2	17	4720350	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7513	4720350	76474860	16146	23858											
PLD2	5338	broad.mit.edu	37	chr17	4725101	4725101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatagtgtgattcttggaGcaaatacccggccagacttg	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4725101G>A	ENST00000263088.6	+	24	2607	c.2476G>A	c.(2476-2478)Gca>Aca	p.A826T	PLD2_ENST00000572940.1_Missense_Mutation_p.A815T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	826					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GATTCTTGGAGCAAATACCCG	0.488													False	0	False	17:4725101	0	A	4725101	G	A	4725101	3	1	88	1	0	0	0	0	1	0	0	0	12115	971	34	2	2566	2	PLD2	17	4725101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4751	4725101	76470109	16147	23859											
MINK1	50488	broad.mit.edu	37	chr17	4796848	4796848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacgacgaggaggaaggCgaaggcgggccagcagaggg	22	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4796848C>T	ENST00000355280.6	+	21	2716	c.2520C>T	c.(2518-2520)ggC>ggT	p.G840G	MINK1_ENST00000347992.7_Silent_p.G811G|MINK1_ENST00000453408.3_Silent_p.G820G	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	840					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGGAGGAAGGCGAAGGCGGGC	0.672													False	0	True	17:4796848	0	T	4796848	C	T	4796848	2	4	88	1	0	0	0	0	0	0	0	1	9654	755	27	1		1	MINK1	17	4796848	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71747	4796848	76398362	16148	23860											
MINK1	50488	broad.mit.edu	37	chr17	4798398	4798398	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggagagggcactcggctCgaccagctgcagtacgacgt	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4798398C>T	ENST00000355280.6	+	25	3142	c.2946C>T	c.(2944-2946)ctC>ctT	p.L982L	MINK1_ENST00000347992.7_Silent_p.L953L|MINK1_ENST00000453408.3_Silent_p.L962L	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	982	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCACTCGGCTCGACCAGCTGC	0.602													False	0	False	17:4798398	0	T	4798398	C	T	4798398	2	4	88	1	0	0	0	0	0	0	0	1	9654	871	31	1		1	MINK1	17	4798398	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1550	4798398	76396812	16149	23861											
CHRNE	1145	broad.mit.edu	37	chr17	4804099	4804099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcttcacctgcccaggagCggcacgctcagagaagtctc	12	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4804099C>T	ENST00000293780.4	-	8	916	c.906G>A	c.(904-906)ccG>ccA	p.P302P	C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	302					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						TGCCCAGGAGCGGCACGCTCA	0.632													False	0	False	17:4804099	0	T	4804099	C	T	4804099	2	4	88	1	0	0	0	0	0	0	0	1	3418	755	27	1		1	CHRNE	17	4804099	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5701	4804099	76391111	16150	23862											
SLC25A11	8402	broad.mit.edu	37	chr17	4841116	4841116	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacggtgtgggggcccaGgcgggcatagtacggcgtga	21	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4841116G>A	ENST00000225665.7	-	8	1205	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	SLC25A11_ENST00000544061.2_Silent_p.L238L	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	289					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TGGGGGCCCAGGCGGGCATAG	0.607													False	0	False	17:4841116	0	A	4841116	G	A	4841116	2	1	88	1	0	0	0	0	0	0	0	1	14553	991	35	2		2	SLC25A11	17	4841116	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37017	4841116	76354094	16151	23863											
SLC25A11	8402	broad.mit.edu	37	chr17	4841499	4841499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagtggtgacaagaccGctgatcatgctggcacagaa	13	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4841499G>A	ENST00000225665.7	-	6	1027	c.687C>T	c.(685-687)agC>agT	p.S229S	SLC25A11_ENST00000544061.2_Silent_p.S178S	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	229					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TGACAAGACCGCTGATCATGC	0.622													False	0	False	17:4841499	0	A	4841499	G	A	4841499	2	1	88	1	0	0	0	0	0	0	0	1	14553	1078	38	1		1	SLC25A11	17	4841499	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383	4841499	76353711	16152	23864											
CAMTA2	23125	broad.mit.edu	37	chr17	4872557	4872557	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcggctctgctgaaatcGcttctgttcatagtagcttc	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4872557G>A	ENST00000361571.5	-	20	3766	c.3355C>T	c.(3355-3357)Cga>Tga	p.R1119*	CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.R1143*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.R1113*|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.R1125*|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.R1115*|CAMTA2_ENST00000348066.3_Nonsense_Mutation_p.R1120*	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1120	IQ 2.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGCTGAAATCGCTTCTGTTCA	0.627													False	0	False	17:4872557	0	A	4872557	G	A	4872557	4	1	88	1	0	0	0	0	0	1	0	0	2634	1095	38	1	312	1	CAMTA2	17	4872557	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31058	4872557	76322653	16153	23865											
CAMTA2	23125	broad.mit.edu	37	chr17	4876933	4876933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccctgggcagcagccagGtgcagaaggctcatgccccg	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4876933G>A	ENST00000361571.5	-	12	2556	c.2145C>T	c.(2143-2145)caC>caT	p.H715H	CAMTA2_ENST00000414043.3_Silent_p.H739H|CAMTA2_ENST00000358183.4_Silent_p.H716H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000572543.1_Silent_p.H721H|CAMTA2_ENST00000381311.5_Silent_p.H718H|CAMTA2_ENST00000348066.3_Silent_p.H716H	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	716					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CAGCAGCCAGGTGCAGAAGGC	0.642													False	0	False	17:4876933	0	A	4876933	G	A	4876933	2	1	88	1	0	0	0	0	0	0	0	1	2634	1252	44	2		2	CAMTA2	17	4876933	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4376	4876933	76318277	16154	23866											
CAMTA2	23125	broad.mit.edu	37	chr17	4877048	4877048	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacccgtgcttcgaacccaGgcccctggccttcatcctgc	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4877048G>T	ENST00000361571.5	-	12	2441	c.2030C>A	c.(2029-2031)cCt>cAt	p.P677H	CAMTA2_ENST00000414043.3_Missense_Mutation_p.P701H|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P678H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000572543.1_Missense_Mutation_p.P683H|CAMTA2_ENST00000381311.5_Missense_Mutation_p.P680H|CAMTA2_ENST00000348066.3_Missense_Mutation_p.P678H	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	678					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCGAACCCAGGCCCCTGGCC	0.597													False	0	False	17:4877048	0	T	4877048	G	T	4877048	3	4	88	1	0	0	0	0	1	0	0	0	2634	1000	35	3	1669	3	CAMTA2	17	4877048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115	4877048	76318162	16155	23867											
CAMTA2	23125	broad.mit.edu	37	chr17	4883865	4883865	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcggggctccactttgggaGagatgatgcggtgtttcgtg	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4883865G>T	ENST00000361571.5	-	8	1160	c.749C>A	c.(748-750)tCt>tAt	p.S250Y	CAMTA2_ENST00000414043.3_Missense_Mutation_p.S274Y|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S251Y|CAMTA2_ENST00000572543.1_Missense_Mutation_p.S256Y|CAMTA2_ENST00000381311.5_Missense_Mutation_p.S253Y|CAMTA2_ENST00000348066.3_Missense_Mutation_p.S251Y	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	251					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CACTTTGGGAGAGATGATGCG	0.587											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	17:4883865	0	T	4883865	G	T	4883865	3	4	88	1	0	0	0	0	1	0	0	0	2634	942	33	3	2966	3	CAMTA2	17	4883865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6817	4883865	76311345	16156	23868											
INCA1	388324	broad.mit.edu	37	chr17	4893489	4893489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagaagacatctccataaCgctggggcatgggtctgagg	13	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4893489C>T	ENST00000396829.2	-	5	682	c.116G>A	c.(115-117)cGt>cAt	p.R39H	INCA1_ENST00000574617.1_Missense_Mutation_p.R39H|INCA1_ENST00000355025.3_Missense_Mutation_p.R39H|INCA1_ENST00000575780.1_Missense_Mutation_p.R39H|INCA1_ENST00000576820.1_Missense_Mutation_p.R39H	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	39						nucleus				upper_aerodigestive_tract(1)	1						ATCTCCATAACGCTGGGGCAT	0.527													False	0	False	17:4893489	0	T	4893489	C	T	4893489	3	4	88	1	0	0	0	0	1	0	0	0	7782	536	19	1	614	1	INCA1	17	4893489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9624	4893489	76301721	16157	23869											
KIF1C	10749	broad.mit.edu	37	chr17	4905925	4905925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgacctcatggactgtgGaaataaagcacggtgaggca	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4905925G>A	ENST00000320785.5	+	7	953	c.596G>A	c.(595-597)gGa>gAa	p.G199E		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	199	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ATGGACTGTGGAAATAAAGCA	0.592													False	0	True	17:4905925	0	A	4905925	G	A	4905925	3	1	88	1	0	0	0	0	1	0	0	0	8335	1174	41	2	614	2	KIF1C	17	4905925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12436	4905925	76289285	16158	23870											
ZFP3	124961	broad.mit.edu	37	chr17	4996027	4996027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggacctctcaccttattGtccaccagagaattcatact	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4996027G>A	ENST00000318833.3	+	2	1564	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TCACCTTATTGTCCACCAGAG	0.433													False	0	False	17:4996027	0	A	4996027	G	A	4996027	3	1	88	1	0	0	0	0	1	0	0	0	17726	1377	48	2	1230	2	ZFP3	17	4996027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90102	4996027	76199183	16159	23871											
USP6	9098	broad.mit.edu	37	chr17	5040979	5040979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccctgcgcctgtgggacGtgtatttggtggaaggagaa	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5040979G>A	ENST00000574788.1	+	20	3089	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	USP6_ENST00000332776.4_Missense_Mutation_p.V287M|USP6_ENST00000250066.6_Missense_Mutation_p.V287M|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	287	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCTGTGGGACGTGTATTTGGT	0.587			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								False	0	False	17:5040979	0	A	5040979	G	A	5040979	3	1	88	1	0	0	0	0	1	0	0	0	17170	1145	40	1	901	1	USP6	17	5040979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44952	5040979	76154231	16160	23872											
USP6	9098	broad.mit.edu	37	chr17	5042848	5042848	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgccccggctcccaacGgacctggatatagggggccc	12	15	1	0	rs61761605		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5042848G>A	ENST00000574788.1	+	22	3607	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	USP6_ENST00000332776.4_Silent_p.T459T|USP6_ENST00000250066.6_Silent_p.T459T|USP6_ENST00000304328.5_Silent_p.T142T			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	459					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGCTCCCAACGGACCTGGATA	0.622			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								False	0	False	17:5042848	0	A	5042848	G	A	5042848	2	1	88	1	0	0	0	0	0	0	0	1	17170	1103	39	1		1	USP6	17	5042848	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1869	5042848	76152362	16161	23873											
USP6	9098	broad.mit.edu	37	chr17	5042898	5042898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattatgattttgaatggaGctgctgggtccgtgccatat	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5042898G>A	ENST00000574788.1	+	22	3657	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	USP6_ENST00000332776.4_Missense_Mutation_p.S476N|USP6_ENST00000250066.6_Missense_Mutation_p.S476N|USP6_ENST00000304328.5_Missense_Mutation_p.S159N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	476					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTGAATGGAGCTGCTGGGTC	0.592			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								False	0	False	17:5042898	0	A	5042898	G	A	5042898	3	1	88	1	0	0	0	0	1	0	0	0	17170	971	34	2	1477	2	USP6	17	5042898	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	5042898	76152312	16162	23874											
RABEP1	9135	broad.mit.edu	37	chr17	5268464	5268464	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caagctaatgaccagttagaGaagacaatgaaagataagca	9	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5268464G>A	ENST00000262477.6	+	11	1940	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E	NUP88_ENST00000573169.1_Intron|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000408982.2_Silent_p.E572E|RABEP1_ENST00000537505.1_Silent_p.E529E|RABEP1_ENST00000341923.6_Silent_p.E572E|RABEP1_ENST00000546142.2_Silent_p.E572E	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	572					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ACCAGTTAGAGAAGACAATGA	0.383													False	0	False	17:5268464	0	A	5268464	G	A	5268464	2	1	88	1	0	0	0	0	0	0	0	1	13040	933	33	2		2	RABEP1	17	5268464	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225566	5268464	75926746	16163	23875											
RABEP1	9135	broad.mit.edu	37	chr17	5280417	5280417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcttgaatccaggcactgCgggagttggtattaaaatac	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5280417C>T	ENST00000262477.6	+	14	2256	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Missense_Mutation_p.R678W|RABEP1_ENST00000537505.1_Missense_Mutation_p.R635W|RABEP1_ENST00000341923.6_Missense_Mutation_p.R678W|RABEP1_ENST00000546142.2_Missense_Mutation_p.R678W	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	678					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CCAGGCACTGCGGGAGTTGGT	0.393													False	0	True	17:5280417	0	T	5280417	C	T	5280417	3	4	88	1	0	0	0	0	1	0	0	0	13040	759	27	1	2086	1	RABEP1	17	5280417	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11953	5280417	75914793	16164	23876											
RABEP1	9135	broad.mit.edu	37	chr17	5284791	5284791	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gattttgtaaagctttcacaGacccttcaggtgaggcattt	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5284791G>A	ENST00000262477.6	+	17	2702	c.2478G>A	c.(2476-2478)caG>caA	p.Q826Q	NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Silent_p.Q793Q|RABEP1_ENST00000537505.1_Silent_p.Q783Q|RABEP1_ENST00000341923.6_Silent_p.Q793Q|RABEP1_ENST00000546142.2_Silent_p.Q826Q	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	826					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGCTTTCACAGACCCTTCAGG	0.458													False	0	False	17:5284791	0	A	5284791	G	A	5284791	2	1	88	1	0	0	0	0	0	0	0	1	13040	933	33	2		2	RABEP1	17	5284791	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4374	5284791	75910419	16165	23877											
NUP88	4927	broad.mit.edu	37	chr17	5302881	5302881	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtaaactcacctgatccaaGaaatttgtgaagtttatgaa	7	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5302881G>T	ENST00000573584.1	-	8	1791	c.1282C>A	c.(1282-1284)Ctt>Att	p.L428I		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	428					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	p.L428I(1)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CCTGATCCAAGAAATTTGTGA	0.343													False	0	True	17:5302881	0	T	5302881	G	T	5302881	3	4	88	1	0	0	0	0	1	0	0	0	10839	942	33	3	983	3	NUP88	17	5302881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18090	5302881	75892329	16166	23878											
NUP88	4927	broad.mit.edu	37	chr17	5323023	5323023	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagcccgccgctgagcacaGccaatccgcggccgtccact	10	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5323023G>T	ENST00000573584.1	-	0	457				RPAIN_ENST00000536255.2_5'UTR|RPAIN_ENST00000381208.5_5'UTR|RPAIN_ENST00000381209.3_5'UTR	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCTGAGCACAGCCAATCCGCG	0.701													False	0	False	17:5323023	0	T	5323023	G	T	5323023	1	4	88	1	0	0	0	0	0	0	0	0	10839	986	34	3		3	NUP88	17	5323023	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20142	5323023	75872187	16167	23879											
C1QBP	708	broad.mit.edu	37	chr17	5336648	5336648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttgagtgtataattagTatccttccattcagactcgc	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5336648T>C	ENST00000225698.4	-	5	745	c.664A>G	c.(664-666)Act>Gct	p.T222A	C1QBP_ENST00000574444.1_Missense_Mutation_p.T118A	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	222					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						GTATAATTAGTATCCTTCCAT	0.478													False	0	False	17:5336648	0	C	5336648	T	C	5336648	3	2	88	1	0	0	0	0	1	0	0	0	1971	1638	57	4	192	4	C1QBP	17	5336648	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13625	5336648	75858562	16168	23880											
NLRP1	22861	broad.mit.edu	37	chr17	5456838	5456838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaggacggagaagagaAtctgccaataggcatctgtg	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5456838A>C	ENST00000345221.3	-	5	2950	c.2396T>G	c.(2395-2397)aTt>aGt	p.I799S	NLRP1_ENST00000262467.5_Missense_Mutation_p.I799S|NLRP1_ENST00000354411.3_Missense_Mutation_p.I799S|NLRP1_ENST00000577119.1_Missense_Mutation_p.I799S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.I799S|NLRP1_ENST00000269280.4_Missense_Mutation_p.I799S	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	799					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGAGAAGAGAATCTGCCAATA	0.542													False	0	True	17:5456838	0	C	5456838	A	C	5456838	3	2	88	1	0	0	0	0	1	0	0	0	10539	101	4	4	2152	4	NLRP1	17	5456838	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	120190	5456838	75738372	16169	23881											
WSCD1	23302	broad.mit.edu	37	chr17	5991326	5991326	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcacctacattggatgCttcagtgacgatggccacga	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5991326C>A	ENST00000574946.1	+	3	834	c.444C>A	c.(442-444)tgC>tgA	p.C148*	WSCD1_ENST00000317744.5_Nonsense_Mutation_p.C148*|WSCD1_ENST00000573634.1_Nonsense_Mutation_p.C32*|WSCD1_ENST00000574232.1_Nonsense_Mutation_p.C148*|WSCD1_ENST00000539421.1_Nonsense_Mutation_p.C148*			Q658N2	WSCD1_HUMAN	WSC domain containing 1	148	WSC 1.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACATTGGATGCTTCAGTGACG	0.537													False	0	False	17:5991326	0	A	5991326	C	A	5991326	4	1	88	1	0	0	0	0	0	1	0	0	17490	805	28	3	450	3	WSCD1	17	5991326	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534488	5991326	75203884	16170	23882											
AIPL1	23746	broad.mit.edu	37	chr17	6337274	6337274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcggccacctcgtgcaCccgcatggaggtaagcagga	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6337274C>T	ENST00000381129.3	-	2	321	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	AIPL1_ENST00000576776.1_Missense_Mutation_p.V81M|AIPL1_ENST00000575265.1_Missense_Mutation_p.V81M|AIPL1_ENST00000250087.5_Missense_Mutation_p.V81M|AIPL1_ENST00000574506.1_Missense_Mutation_p.V69M|AIPL1_ENST00000571740.1_Missense_Mutation_p.V81M|AIPL1_ENST00000570466.1_Missense_Mutation_p.V59M|AIPL1_ENST00000576307.1_Intron	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	81	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		ACCTCGTGCACCCGCATGGAG	0.592													False	0	True	17:6337274	0	T	6337274	C	T	6337274	3	4	88	1	0	0	0	0	1	0	0	0	436	507	18	2	933	2	AIPL1	17	6337274	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	345948	6337274	74857936	16171	23883											
FAM64A	54478	broad.mit.edu	37	chr17	6348719	6348719	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagtgctttgggtgccgtgTcccaggtaatactgacaaca	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6348719T>C	ENST00000572447.1	+	2	398	c.289T>C	c.(289-291)Tcc>Ccc	p.S97P	FAM64A_ENST00000572595.2_Missense_Mutation_p.S97P|FAM64A_ENST00000571373.1_Missense_Mutation_p.S97P|FAM64A_ENST00000250056.8_Missense_Mutation_p.S97P|FAM64A_ENST00000576056.1_Missense_Mutation_p.S97P|FAM64A_ENST00000570337.2_Missense_Mutation_p.S97P	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	97						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		GGGTGCCGTGTCCCAGGTAAT	0.547													False	0	True	17:6348719	0	C	6348719	T	C	6348719	3	2	88	1	0	0	0	0	1	0	0	0	5638	1667	58	4	291	4	FAM64A	17	6348719	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11445	6348719	74846491	16172	23884											
PITPNM3	83394	broad.mit.edu	37	chr17	6364709	6364709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacctcctgcatgaggttgCgcaggaagatggccttctgc	12	12	2	2	rs148826628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6364709C>T	ENST00000262483.8	-	18	2561	c.2474G>A	c.(2473-2475)cGc>cAc	p.R825H	PITPNM3_ENST00000421306.3_Missense_Mutation_p.R789H|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3						phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CATGAGGTTGCGCAGGAAGAT	0.642													False	0	False	17:6364709	0	T	6364709	C	T	6364709	3	4	88	1	0	0	0	0	1	0	0	0	12021	768	27	1	462	1	PITPNM3	17	6364709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15990	6364709	74830501	16173	23885											
PITPNM3	83394	broad.mit.edu	37	chr17	6376098	6376098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaggcagaggggtctgcGcaatggaagaagctgtagac	17	7	1	4	rs148138690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6376098G>A	ENST00000262483.8	-	11	1395	c.1308C>T	c.(1306-1308)tgC>tgT	p.C436C	PITPNM3_ENST00000421306.3_Silent_p.C400C|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3		DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGGGTCTGCGCAATGGAAGA	0.632													False	0	False	17:6376098	0	A	6376098	G	A	6376098	2	1	88	1	0	0	0	0	0	0	0	1	12021	1079	38	1		1	PITPNM3	17	6376098	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11389	6376098	74819112	16174	23886											
PITPNM3	83394	broad.mit.edu	37	chr17	6387061	6387061	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcttgcaggagcgctgCgggcagccttcctgagagcc	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6387061C>T	ENST00000262483.8	-	6	450	c.363G>A	c.(361-363)ccG>ccA	p.P121P	PITPNM3_ENST00000421306.3_Silent_p.P85P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3						phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGAGCGCTGCGGGCAGCCTT	0.637													False	0	True	17:6387061	0	T	6387061	C	T	6387061	2	4	88	1	0	0	0	0	0	0	0	1	12021	755	27	1		1	PITPNM3	17	6387061	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10963	6387061	74808149	16175	23887											
TXNDC17	84817	broad.mit.edu	37	chr17	6544417	6544417	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgccaatggcccgctatgaGgaggtgagcgtgtccggctt	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6544417G>T	ENST00000250101.5	+	1	340	c.15G>T	c.(13-15)gaG>gaT	p.E5D	TXNDC17_ENST00000574838.1_Missense_Mutation_p.E5D|TXNDC17_ENST00000570330.1_Missense_Mutation_p.E5D	NM_032731.3	NP_116120.1	Q9BRA2	TXD17_HUMAN	thioredoxin domain containing 17	5					tumor necrosis factor-mediated signaling pathway	cytosol	electron carrier activity|peroxidase activity|protein binding|protein-disulfide reductase activity			endometrium(1)|kidney(1)|ovary(1)	3						CCCGCTATGAGGAGGTGAGCG	0.652													False	0	False	17:6544417	0	T	6544417	G	T	6544417	3	4	88	1	0	0	0	0	1	0	0	0	16880	991	35	3	17	3	TXNDC17	17	6544417	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157356	6544417	74650793	16176	23888											
MED31	51003	broad.mit.edu	37	chr17	6547942	6547942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttcggaagtgttcatAttggagcagctctaacatgt	9	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6547942A>G	ENST00000225728.3	-	4	346	c.241T>C	c.(241-243)Tat>Cat	p.Y81H	MED31_ENST00000574128.1_Missense_Mutation_p.Y7H|MED31_ENST00000575197.1_3'UTR	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			cervix(1)|endometrium(1)|large_intestine(1)	3						AAGTGTTCATATTGGAGCAGC	0.408													False	0	False	17:6547942	0	G	6547942	A	G	6547942	3	3	88	1	0	0	0	0	1	0	0	0	9516	449	16	4	158	4	MED31	17	6547942	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3525	6547942	74647268	16177	23889											
SLC13A5	284111	broad.mit.edu	37	chr17	6597450	6597450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggaagttaaacttgggCttctgtgaaggcacaatgaa	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6597450C>A	ENST00000433363.2	-	8	1355	c.1122G>T	c.(1120-1122)aaG>aaT	p.K374N	SLC13A5_ENST00000293800.6_Missense_Mutation_p.K357N|SLC13A5_ENST00000573648.1_Missense_Mutation_p.K374N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.K331N	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	374						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TAAACTTGGGCTTCTGTGAAG	0.537													False	0	True	17:6597450	0	A	6597450	C	A	6597450	3	1	88	1	0	0	0	0	1	0	0	0	14476	796	28	3	604	3	SLC13A5	17	6597450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49508	6597450	74597760	16178	23890											
TEKT1	83659	broad.mit.edu	37	chr17	6704113	6704113	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctccttcattagcctataTtgtgcgacatcacgacacag	6	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6704113T>G	ENST00000338694.2	-	7	1131	c.1002A>C	c.(1000-1002)caA>caC	p.Q334H	TEKT1_ENST00000535086.1_Missense_Mutation_p.Q188H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	334					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTAGCCTATATTGTGCGACAT	0.572											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:6704113	0	G	6704113	T	G	6704113	3	3	88	1	0	0	0	0	1	0	0	0	15834	1490	52	4	262	4	TEKT1	17	6704113	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	106663	6704113	74491097	16179	23891											
TEKT1	83659	broad.mit.edu	37	chr17	6733612	6733612	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgatcgggacctttgagcGtctgctctgtggtactggtt	13	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6733612G>A	ENST00000535086.1	-	0	158				TEKT1_ENST00000338694.2_Silent_p.D28D			Q969V4	TEKT1_HUMAN	tektin 1						microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ACCTTTGAGCGTCTGCTCTGT	0.468													False	0	False	17:6733612	0	A	6733612	G	A	6733612	1	1	88	1	0	0	0	0	0	0	0	0	15834	1136	40	1		1	TEKT1	17	6733612	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29499	6733612	74461598	16180	23892											
C17orf49	124944	broad.mit.edu	37	chr17	6920612	6920612	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctggccttctcatgacctCtgctgatcctcctctcctct	5	17	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6920612C>A	ENST00000546495.1	+	6	914	c.551C>A	c.(550-552)tCt>tAt	p.S184Y	C17orf49_ENST00000546760.1_Missense_Mutation_p.S149Y|C17orf49_ENST00000547709.1_3'UTR|C17orf49_ENST00000552402.1_3'UTR|C17orf49_ENST00000552775.1_Missense_Mutation_p.S158Y|RP11-589P10.7_ENST00000572547.1_RNA|RNASEK-C17orf49_ENST00000547302.2_Missense_Mutation_p.L225M|C17orf49_ENST00000439424.2_3'UTR|MIR497HG_ENST00000572453.1_RNA|MIR497HG_ENST00000443997.1_RNA			Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49	0					chromatin modification	MLL1 complex|NURF complex	DNA binding			kidney(1)|large_intestine(2)|ovary(1)	4						CTCATGACCTCTGCTGATCCT	0.592													False	0	False	17:6920612	0	A	6920612	C	A	6920612	3	1	88	1	0	0	0	0	1	0	0	0	1872	913	32	3	573	3	C17orf49	17	6920612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187000	6920612	74274598	16181	23893											
BCL6B	255877	broad.mit.edu	37	chr17	6927518	6927518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attggacttcatgtacacttCgcgcctgcgcctctctccag	8	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6927518C>T	ENST00000293805.5	+	3	388	c.296C>T	c.(295-297)tCg>tTg	p.S99L	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	99	BTB.					nucleus	zinc ion binding			skin(1)	1						ATGTACACTTCGCGCCTGCGC	0.642													False	0	False	17:6927518	0	T	6927518	C	T	6927518	3	4	88	1	0	0	0	0	1	0	0	0	1381	893	31	1	302	1	BCL6B	17	6927518	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6906	6927518	74267692	16182	23894											
SLC16A13	201232	broad.mit.edu	37	chr17	6941494	6941494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgggctttgaccttcGctccgaccctggcctgcctg	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6941494G>A	ENST00000308027.6	+	3	675	c.367G>A	c.(367-369)Gct>Act	p.A123T		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	123						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TTTGACCTTCGCTCCGACCCT	0.587													False	0	False	17:6941494	0	A	6941494	G	A	6941494	3	1	88	1	0	0	0	0	1	0	0	0	14487	1087	38	1	377	1	SLC16A13	17	6941494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13976	6941494	74253716	16183	23895											
SLC16A13	201232	broad.mit.edu	37	chr17	6941591	6941591	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcctctcctccttcacatTtgccccctttttccagtggc	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6941591T>G	ENST00000308027.6	+	3	772	c.464T>G	c.(463-465)tTt>tGt	p.F155C		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	155						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TCCTTCACATTTGCCCCCTTT	0.642													False	0	True	17:6941591	0	G	6941591	T	G	6941591	3	3	88	1	0	0	0	0	1	0	0	0	14487	1841	64	4	474	4	SLC16A13	17	6941591	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97	6941591	74253619	16184	23896											
ASGR2	433	broad.mit.edu	37	chr17	7012170	7012170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgaagcagaccatggaGcagagacgctgtgccagggg	16	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7012170G>A	ENST00000380952.2	-	3	426	c.162C>T	c.(160-162)tgC>tgT	p.C54C	ASGR2_ENST00000446679.2_Silent_p.C35C|ASGR2_ENST00000254850.7_Silent_p.C35C|ASGR2_ENST00000355035.5_Silent_p.C54C	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	54					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGACCATGGAGCAGAGACGCT	0.647													False	0	False	17:7012170	0	A	7012170	G	A	7012170	2	1	88	1	0	0	0	0	0	0	0	1	1044	963	34	2		2	ASGR2	17	7012170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70579	7012170	74183040	16185	23897											
ASGR2	433	broad.mit.edu	37	chr17	7017525	7017525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatggtcattttcctccgagCtcagctgctggatatcttga	10	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7017525C>A	ENST00000380952.2	-	2	299	c.35G>T	c.(34-36)aGc>aTc	p.S12I	ASGR2_ENST00000446679.2_Missense_Mutation_p.S12I|ASGR2_ENST00000254850.7_Missense_Mutation_p.S12I|ASGR2_ENST00000355035.5_Missense_Mutation_p.S12I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	12					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TTCCTCCGAGCTCAGCTGCTG	0.577													False	0	False	17:7017525	0	A	7017525	C	A	7017525	3	1	88	1	0	0	0	0	1	0	0	0	1044	797	28	3	932	3	ASGR2	17	7017525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5355	7017525	74177685	16186	23898											
ASGR1	432	broad.mit.edu	37	chr17	7080161	7080161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctgaccttcactcaggtCcttctgctgtttctccagct	6	15	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7080161C>T	ENST00000574388.1	-	3	1018	c.226G>A	c.(226-228)Gac>Aac	p.D76N	ASGR1_ENST00000572879.1_Intron|ASGR1_ENST00000380920.4_Missense_Mutation_p.D14N|ASGR1_ENST00000269299.3_Missense_Mutation_p.D115N			P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	115					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TCACTCAGGTCCTTCTGCTGT	0.547													False	0	False	17:7080161	0	T	7080161	C	T	7080161	3	4	88	1	0	0	0	0	1	0	0	0	1043	855	30	2	552	2	ASGR1	17	7080161	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62636	7080161	74115049	16187	23899											
DLG4	1742	broad.mit.edu	37	chr17	7106591	7106591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatctttgttacatagatgCtattatctcctgggatgtgc	9	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7106591C>A	ENST00000399510.2	-	9	1544	c.692G>T	c.(691-693)aGc>aTc	p.S231I	DLG4_ENST00000302955.6_Missense_Mutation_p.S185I|DLG4_ENST00000485100.1_Missense_Mutation_p.S185I|DLG4_ENST00000399506.2_Missense_Mutation_p.S188I	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	188	PDZ 2.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TACATAGATGCTATTATCTCC	0.577													False	0	False	17:7106591	0	A	7106591	C	A	7106591	3	1	88	1	0	0	0	0	1	0	0	0	4587	797	28	3	1667	3	DLG4	17	7106591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26430	7106591	74088619	16188	23900											
DVL2	1856	broad.mit.edu	37	chr17	7129389	7129389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggccatgccagggggcGgtccatagggatggagccct	19	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7129389G>A	ENST00000005340.5	-	15	2288	c.2006C>T	c.(2005-2007)cCg>cTg	p.P669L	DVL2_ENST00000575458.1_Missense_Mutation_p.P663L	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	669					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GCCAGGGGGCGGTCCATAGGG	0.667													False	0	False	17:7129389	0	A	7129389	G	A	7129389	3	1	88	1	0	0	0	0	1	0	0	0	4866	1116	39	1	208	1	DVL2	17	7129389	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22798	7129389	74065821	16189	23901											
DVL2	1856	broad.mit.edu	37	chr17	7130980	7130980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggcggctcaccatcagGcaaagacgatccagatgtaa	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7130980G>A	ENST00000005340.5	-	11	1507	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	DVL2_ENST00000575458.1_Missense_Mutation_p.P403S	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	409					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCACCATCAGGCAAAGACGAT	0.612													False	0	False	17:7130980	0	A	7130980	G	A	7130980	3	1	88	1	0	0	0	0	1	0	0	0	4866	1203	42	2	1005	2	DVL2	17	7130980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1591	7130980	74064230	16190	23902											
DVL2	1856	broad.mit.edu	37	chr17	7133391	7133391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcactgctgtctctcctgCgaggccgctcccgcctcagt	10	18	3	0	rs144205338	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7133391C>T	ENST00000005340.5	-	4	776	c.494G>A	c.(493-495)cGc>cAc	p.R165H	DVL2_ENST00000575458.1_Missense_Mutation_p.R159H|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	165					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GTCTCTCCTGCGAGGCCGCTC	0.642													False	0	False	17:7133391	0	T	7133391	C	T	7133391	3	4	88	1	0	0	0	0	1	0	0	0	4866	768	27	1	1764	1	DVL2	17	7133391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2411	7133391	74061819	16191	23903											
YBX2	51087	broad.mit.edu	37	chr17	7195345	7195345	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagctaacctagctcttacCtggtgaacaaagacatcttc	6	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7195345C>A	ENST00000007699.5	-	3	432	c.369G>T	c.(367-369)caG>caT	p.Q123H	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	123	CSD.|Required for cytoplasmic retention (By similarity).				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TAGCTCTTACCTGGTGAACAA	0.517													False	0	False	17:7195345	0	A	7195345	C	A	7195345	5	1	88	1	0	0	0	0	0	0	1	0	17554	695	24	3	749	3	YBX2	17	7195345	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61954	7195345	73999865	16192	23904											
NEURL4	84461	broad.mit.edu	37	chr17	7226812	7226812	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaagcccaacctcagcatCcatgtgtcatagtcaatgtc	8	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7226812C>T	ENST00000399464.2	-	14	2424	c.2409G>A	c.(2407-2409)tgG>tgA	p.W803*	NEURL4_ENST00000315614.7_Nonsense_Mutation_p.W803*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.W781*	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.W803F(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCTCAGCATCCATGTGTCAT	0.572													False	0	False	17:7226812	0	T	7226812	C	T	7226812	4	4	88	1	0	0	0	0	0	1	0	0	10415	856	30	2	2343	2	NEURL4	17	7226812	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31467	7226812	73968398	16193	23905											
NEURL4	84461	broad.mit.edu	37	chr17	7228226	7228226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaccatcttgtcgatgcGcacctggaacacctctccat	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7228226G>A	ENST00000399464.2	-	9	1720	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	NEURL4_ENST00000315614.7_Missense_Mutation_p.R569C|NEURL4_ENST00000570460.1_Missense_Mutation_p.R547C	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.R569C(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGTCGATGCGCACCTGGAAC	0.577											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:7228226	0	A	7228226	G	A	7228226	3	1	88	1	0	0	0	0	1	0	0	0	10415	1087	38	1	3067	1	NEURL4	17	7228226	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1414	7228226	73966984	16194	23906											
NEURL4	84461	broad.mit.edu	37	chr17	7228773	7228773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccatacaccactgggggCgtcaagggggttgccactcc	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7228773C>T	ENST00000399464.2	-	8	1401	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	NEURL4_ENST00000315614.7_Silent_p.T462T|NEURL4_ENST00000570460.1_Silent_p.T440T	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCACTGGGGGCGTCAAGGGGG	0.582													False	0	True	17:7228773	0	T	7228773	C	T	7228773	2	4	88	1	0	0	0	0	0	0	0	1	10415	755	27	1		1	NEURL4	17	7228773	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	547	7228773	73966437	16195	23907											
ACAP1	9744	broad.mit.edu	37	chr17	7249714	7249714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccttatcctgccaggaccCtgtgactgtggtggtggatg	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7249714C>T	ENST00000158762.3	+	12	1117	c.911C>T	c.(910-912)cCt>cTt	p.P304L		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	304	PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGCCAGGACCCTGTGACTGTG	0.587											OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	17:7249714	0	T	7249714	C	T	7249714	3	4	88	1	0	0	0	0	1	0	0	0	118	681	24	2	957	2	ACAP1	17	7249714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20941	7249714	73945496	16196	23908											
KCTD11	147040	broad.mit.edu	37	chr17	7256385	7256385	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatcctcaatttcctgaggCtgggccgcctggacctgccc	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256385C>A	ENST00000333751.3	+	1	1178	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	42	BTB.				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				TTTCCTGAGGCTGGGCCGCCT	0.662													False	0	False	17:7256385	0	A	7256385	C	A	7256385	3	1	88	1	0	0	0	0	1	0	0	0	8148	796	28	3	126	3	KCTD11	17	7256385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6671	7256385	73938825	16197	23909											
KCTD11	147040	broad.mit.edu	37	chr17	7256609	7256609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcactatgagctgagctcCgtccaggtggacaccttccg	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256609C>T	ENST00000333751.3	+	1	1402	c.348C>T	c.(346-348)tcC>tcT	p.S116S	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	116					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AGCTGAGCTCCGTCCAGGTGG	0.622													False	0	False	17:7256609	0	T	7256609	C	T	7256609	2	4	88	1	0	0	0	0	0	0	0	1	8148	639	23	1		1	KCTD11	17	7256609	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224	7256609	73938601	16198	23910											
KCTD11	147040	broad.mit.edu	37	chr17	7256700	7256700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatttggtgtggccagtgggGatagggcagaggggagccca	20	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256700G>A	ENST00000333751.3	+	1	1493	c.439G>A	c.(439-441)Gat>Aat	p.D147N	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	147					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GGCCAGTGGGGATAGGGCAGA	0.637													False	0	True	17:7256700	0	A	7256700	G	A	7256700	3	1	88	1	0	0	0	0	1	0	0	0	8148	1174	41	2	441	2	KCTD11	17	7256700	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	7256700	73938510	16199	23911											
KCTD11	147040	broad.mit.edu	37	chr17	7256823	7256823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggggccaggagagcggCgggaggtggtgggcacccca	22	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256823C>T	ENST00000333751.3	+	1	1616	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	188					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AGGAGAGCGGCGGGAGGTGGT	0.677													False	0	True	17:7256823	0	T	7256823	C	T	7256823	3	4	88	1	0	0	0	0	1	0	0	0	8148	759	27	1	564	1	KCTD11	17	7256823	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123	7256823	73938387	16200	23912											
TMEM95	339168	broad.mit.edu	37	chr17	7258594	7258594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttctgtcgcctcccagCccacgacttgtcaggccgcc	9	18	3	0	rs141789227		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7258594C>T	ENST00000389982.4	+	1	153	c.71C>T	c.(70-72)gCc>gTc	p.A24V	TMEM95_ENST00000576060.1_Missense_Mutation_p.A24V|TMEM95_ENST00000330767.4_Missense_Mutation_p.A24V			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	24						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CGCCTCCCAGCCCACGACTTG	0.662													False	0	True	17:7258594	0	T	7258594	C	T	7258594	3	4	88	1	0	0	0	0	1	0	0	0	16305	739	26	2	73	2	TMEM95	17	7258594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1771	7258594	73936616	16201	23913											
TMEM95	339168	broad.mit.edu	37	chr17	7259362	7259362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagctctctgtccccccGcctgccgtgagtaggaaagg	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7259362G>A	ENST00000389982.4	+	4	404	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	TMEM95_ENST00000576060.1_Missense_Mutation_p.A108T|TMEM95_ENST00000330767.4_Missense_Mutation_p.A108T			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	108						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CTGTCCCCCCGCCTGCCGTGA	0.597											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	17:7259362	0	A	7259362	G	A	7259362	3	1	88	1	0	0	0	0	1	0	0	0	16305	1087	38	1	336	1	TMEM95	17	7259362	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	768	7259362	73935848	16202	23914											
TMEM95	339168	broad.mit.edu	37	chr17	7259562	7259562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacctgcaaggggacggagGtgtcctgctggccccgaaag	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7259562G>A	ENST00000389982.4	+	5	458	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	TMEM95_ENST00000576060.1_Missense_Mutation_p.V126M|TMEM95_ENST00000330767.4_Missense_Mutation_p.V134M			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	126						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				GGGGACGGAGGTGTCCTGCTG	0.687											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:7259562	0	A	7259562	G	A	7259562	3	1	88	1	0	0	0	0	1	0	0	0	16305	1261	44	2	418	2	TMEM95	17	7259562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200	7259562	73935648	16203	23915											
TNK1	8711	broad.mit.edu	37	chr17	7291949	7291949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaatcaccccatgggaatgCctggagcccgtaaagccgct	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7291949C>A	ENST00000570896.1	+	12	2148	c.1702C>A	c.(1702-1704)Cct>Act	p.P568T	TNK1_ENST00000311668.2_Missense_Mutation_p.P568T|TNK1_ENST00000576812.1_Missense_Mutation_p.P573T			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	573	Pro-rich.				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CATGGGAATGCCTGGAGCCCG	0.577													False	0	False	17:7291949	0	A	7291949	C	A	7291949	3	1	88	1	0	0	0	0	1	0	0	0	16399	739	26	3	1740	3	TNK1	17	7291949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32387	7291949	73903261	16204	23916											
NLGN2	57555	broad.mit.edu	37	chr17	7315515	7315515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgaggcgacgctcaatcCgccagacacaggtagattta	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7315515C>T	ENST00000302926.2	+	2	570	c.497C>T	c.(496-498)cCg>cTg	p.P166L	NLGN2_ENST00000575301.1_Missense_Mutation_p.P166L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	166					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	p.P166L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				ACGCTCAATCCGCCAGACACA	0.502													False	0	False	17:7315515	0	T	7315515	C	T	7315515	3	4	88	1	0	0	0	0	1	0	0	0	10530	652	23	1	503	1	NLGN2	17	7315515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23566	7315515	73879695	16205	23917											
NLGN2	57555	broad.mit.edu	37	chr17	7318933	7318933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaactacgacatgctcatcGgcgtcaaccagggagagggc	12	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7318933G>A	ENST00000302926.2	+	6	1214	c.1141G>A	c.(1141-1143)Ggc>Agc	p.G381S	NLGN2_ENST00000575301.1_Missense_Mutation_p.G381S	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	381					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CATGCTCATCGGCGTCAACCA	0.587													False	0	False	17:7318933	0	A	7318933	G	A	7318933	3	1	88	1	0	0	0	0	1	0	0	0	10530	1116	39	1	1163	1	NLGN2	17	7318933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3418	7318933	73876277	16206	23918											
SPEM1	374768	broad.mit.edu	37	chr17	7323765	7323765	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacaactgcaacagcaacaGctgccaggacctgggcaact	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7323765G>T	ENST00000323675.3	+	1	87	c.62G>T	c.(61-63)aGc>aTc	p.S21I	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	21					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				AACAGCAACAGCTGCCAGGAC	0.607													False	0	False	17:7323765	0	T	7323765	G	T	7323765	3	4	88	1	0	0	0	0	1	0	0	0	15119	971	34	3	64	3	SPEM1	17	7323765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4832	7323765	73871445	16207	23919											
SPEM1	374768	broad.mit.edu	37	chr17	7323996	7323996	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagtgttccatgataccatTtgtgagaaaggtaagaggtc	11	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7323996T>C	ENST00000323675.3	+	2	220	c.195T>C	c.(193-195)atT>atC	p.I65I	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	65					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ATGATACCATTTGTGAGAAAG	0.567													False	0	True	17:7323996	0	C	7323996	T	C	7323996	2	2	88	1	0	0	0	0	0	0	0	1	15119	1829	64	4		4	SPEM1	17	7323996	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	231	7323996	73871214	16208	23920											
SPEM1	374768	broad.mit.edu	37	chr17	7324541	7324541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagaccatccgcttccagCctaccgtagaggaaaggccc	9	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7324541C>T	ENST00000323675.3	+	3	572	c.547C>T	c.(547-549)Cct>Tct	p.P183S	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	183					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CCGCTTCCAGCCTACCGTAGA	0.617													False	0	False	17:7324541	0	T	7324541	C	T	7324541	3	4	88	1	0	0	0	0	1	0	0	0	15119	739	26	2	557	2	SPEM1	17	7324541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	545	7324541	73870669	16209	23921											
C17orf74	201243	broad.mit.edu	37	chr17	7330031	7330031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctacctgtcacctgagctgCgctgcatgcccaagcgtgta	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7330031C>T	ENST00000333870.3	+	3	795	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	241						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACCTGAGCTGCGCTGCATGCC	0.642													False	0	True	17:7330031	0	T	7330031	C	T	7330031	3	4	88	1	0	0	0	0	1	0	0	0	1892	768	27	1	731	1	C17orf74	17	7330031	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5490	7330031	73865179	16210	23922											
ZBTB4	57659	broad.mit.edu	37	chr17	7366455	7366455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtctctgagatgcggcGcttgacgatggcctcctccc	12	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7366455G>A	ENST00000311403.4	-	4	2185	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R616C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	616	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GAGATGCGGCGCTTGACGATG	0.647													False	0	False	17:7366455	0	A	7366455	G	A	7366455	3	1	88	1	0	0	0	0	1	0	0	0	17624	1087	38	1	1199	1	ZBTB4	17	7366455	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36424	7366455	73828755	16211	23923											
ZBTB4	57659	broad.mit.edu	37	chr17	7367040	7367040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagggccgcttggctgcccGcatggggagcaggcggtaga	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7367040G>A	ENST00000311403.4	-	4	1600	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R421W	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TTGGCTGCCCGCATGGGGAGC	0.632													False	0	True	17:7367040	0	A	7367040	G	A	7367040	3	1	88	1	0	0	0	0	1	0	0	0	17624	1086	38	1	1784	1	ZBTB4	17	7367040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	585	7367040	73828170	16212	23924											
POLR2A	5430	broad.mit.edu	37	chr17	7405894	7405894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatggtgaagtacgacgCgactgtgcggaactccatca	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7405894C>T	ENST00000322644.6	+	16	3029	c.2630C>T	c.(2629-2631)gCg>gTg	p.A877V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	877					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAGTACGACGCGACTGTGCGG	0.577													False	0	False	17:7405894	0	T	7405894	C	T	7405894	3	4	88	1	0	0	0	0	1	0	0	0	12283	768	27	1	2692	1	POLR2A	17	7405894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38854	7405894	73789316	16213	23925											
POLR2A	5430	broad.mit.edu	37	chr17	7406566	7406566	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaatttgagcggatgcgggaGgatcgggaggtgctcagggt	20	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7406566G>T	ENST00000322644.6	+	17	3282	c.2883G>T	c.(2881-2883)gaG>gaT	p.E961D		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	961					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGATGCGGGAGGATCGGGAGG	0.612													False	0	False	17:7406566	0	T	7406566	G	T	7406566	3	4	88	1	0	0	0	0	1	0	0	0	12283	991	35	3	2949	3	POLR2A	17	7406566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	672	7406566	73788644	16214	23926											
POLR2A	5430	broad.mit.edu	37	chr17	7417442	7417442	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tactcgcccaccagccccacCtacagtctcacaagcccggc	6	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7417442C>A	ENST00000322644.6	+	29	6258	c.5859C>A	c.(5857-5859)acC>acA	p.T1953T		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1953	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCAGCCCCACCTACAGTCTCA	0.662													False	0	False	17:7417442	0	A	7417442	C	A	7417442	2	1	88	1	0	0	0	0	0	0	0	1	12283	668	24	3		3	POLR2A	17	7417442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10876	7417442	73777768	16215	23927											
TNFSF12-TNFSF13	0	broad.mit.edu	37	chr17	7460175	7460175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctacaaccgccagatcgggGagtttatagtcacccgggct	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7460175G>A	ENST00000293826.4	+	6	509	c.454G>A	c.(454-456)Gag>Aag	p.E152K	TNFSF12_ENST00000462811.1_3'UTR|TNFSF12_ENST00000293825.6_Missense_Mutation_p.E152K|TNFSF12_ENST00000557233.1_Missense_Mutation_p.E152K	NM_172089.3	NP_742086.1	Q8IZK7	Q8IZK7_HUMAN		152					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|large_intestine(2)	3		Prostate(122;0.157)				CCAGATCGGGGAGTTTATAGT	0.582													False	0	True	17:7460175	0	A	7460175	G	A	7460175	3	1	88	1	0	0	0	0	1	0	0	0	16386	1175	41	2	476	2	TNFSF12-TNFSF13	17	7460175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42733	7460175	73735035	16216	23928											
TNFSF13	8741	broad.mit.edu	37	chr17	7463164	7463164	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctccttctctcctcagaGcagcactctgtcctgcacct	5	19	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7463164G>T	ENST00000338784.4	+	3	782	c.339G>T	c.(337-339)aaG>aaT	p.K113N	TNFSF13_ENST00000483039.1_5'UTR|TNFSF13_ENST00000349228.4_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Splice_Site_p.K193N|TNFSF13_ENST00000396545.4_Splice_Site_p.K113N|TNFSF13_ENST00000396542.1_Intron|TNFSF13_ENST00000380535.4_Intron|TNFSF12_ENST00000557233.1_Splice_Site_p.K193N	NM_003808.3	NP_003799.1			tumor necrosis factor (ligand) superfamily, member 13											large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				TCTCCTCAGAGCAGCACTCTG	0.562											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:7463164	0	T	7463164	G	T	7463164	5	4	88	1	0	0	0	0	0	0	1	0	16387	985	34	3	349	3	TNFSF13	17	7463164	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2989	7463164	73732046	16217	23929											
TNFSF13	8741	broad.mit.edu	37	chr17	7463427	7463427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcgtgggagaggcctacaGgcccaaggatatggtgtccg	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7463427G>T	ENST00000349228.4	+	3	963	c.399G>T	c.(397-399)caG>caT	p.Q133H	TNFSF13_ENST00000483039.1_Missense_Mutation_p.Q13H|TNFSF13_ENST00000338784.4_Missense_Mutation_p.Q149H|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.Q229H|TNFSF13_ENST00000396545.4_Missense_Mutation_p.Q149H|TNFSF13_ENST00000396542.1_Missense_Mutation_p.Q104H|TNFSF13_ENST00000380535.4_Missense_Mutation_p.Q121H|TNFSF12_ENST00000557233.1_Missense_Mutation_p.Q229H	NM_172087.2	NP_742084.1			tumor necrosis factor (ligand) superfamily, member 13											large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				GAGGCCTACAGGCCCAAGGAT	0.552											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:7463427	0	T	7463427	G	T	7463427	3	4	88	1	0	0	0	0	1	0	0	0	16387	991	35	3	461	3	TNFSF13	17	7463427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	7463427	73731783	16218	23930											
SENP3	26168	broad.mit.edu	37	chr17	7468084	7468084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtggcccaggagctttttcaGggctcagatttgggcatggc	15	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7468084G>T	ENST00000321337.7	+	3	1178	c.858G>T	c.(856-858)caG>caT	p.Q286H	SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000429205.2_Missense_Mutation_p.Q286H|SENP3_ENST00000578868.1_3'UTR	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	286					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				AGCTTTTTCAGGGCTCAGATT	0.617													False	0	True	17:7468084	0	T	7468084	G	T	7468084	3	4	88	1	0	0	0	0	1	0	0	0	14129	991	35	3	864	3	SENP3	17	7468084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4657	7468084	73727126	16219	23931											
FXR2	9513	broad.mit.edu	37	chr17	7496331	7496331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagatgaagaattgtatctcGaagtgggccggggggcaggt	17	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7496331G>A	ENST00000250113.7	-	13	1833	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	500						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ATTGTATCTCGAAGTGGGCCG	0.617													False	0	False	17:7496331	0	A	7496331	G	A	7496331	3	1	88	1	0	0	0	0	1	0	0	0	6158	1059	37	1	442	1	FXR2	17	7496331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28247	7496331	73698879	16220	23932											
FXR2	9513	broad.mit.edu	37	chr17	7497589	7497589	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttgtcattatcaccTtccactcgaaccctcaccac	2	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7497589T>C	ENST00000250113.7	-	10	1321	c.987A>G	c.(985-987)gaA>gaG	p.E329E		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	329						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CATTATCACCTTCCACTCGAA	0.478													False	0	False	17:7497589	0	C	7497589	T	C	7497589	2	2	88	1	0	0	0	0	0	0	0	1	6158	1606	56	4		4	FXR2	17	7497589	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1258	7497589	73697621	16221	23933											
SAT2	112483	broad.mit.edu	37	chr17	7530896	7530896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtcttcacccgaatcaGcctcaggatatctccacagt	7	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7530896G>T	ENST00000269298.5	-	1	277	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	SAT2_ENST00000573566.1_Missense_Mutation_p.L20M|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576478.1_Intron|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000574539.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	20	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	ACCCGAATCAGCCTCAGGATA	0.677													False	0	False	17:7530896	0	T	7530896	G	T	7530896	3	4	88	1	0	0	0	0	1	0	0	0	13932	962	34	3	478	3	SAT2	17	7530896	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33307	7530896	73664314	16222	23934											
DNAH2	146754	broad.mit.edu	37	chr17	7660422	7660422	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcaaaggtcccttctgattCtctttgcggaaattgactac	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7660422C>T	ENST00000572933.1	+	13	3378	c.1918C>T	c.(1918-1920)Ctc>Ttc	p.L640F	DNAH2_ENST00000389173.2_Missense_Mutation_p.L640F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	640	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTCTGATTCTCTTTGCGGA	0.567													False	0	False	17:7660422	0	T	7660422	C	T	7660422	3	4	88	1	0	0	0	0	1	0	0	0	4632	913	32	2	1964	2	DNAH2	17	7660422	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129526	7660422	73534788	16223	23935											
DNAH2	146754	broad.mit.edu	37	chr17	7667264	7667264	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcactgcaatgaatggCagaacaagttcgcgactctg	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7667264C>T	ENST00000572933.1	+	19	4554	c.3094C>T	c.(3094-3096)Cag>Tag	p.Q1032*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.Q1032*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1032	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAATGAATGGCAGAACAAGTT	0.572													False	0	False	17:7667264	0	T	7667264	C	T	7667264	4	4	88	1	0	0	0	0	0	1	0	0	4632	711	25	2	3164	2	DNAH2	17	7667264	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6842	7667264	73527946	16224	23936											
DNAH2	146754	broad.mit.edu	37	chr17	7689644	7689644	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgcgccggagaccctaActtcaacattgttagagtac	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7689644A>C	ENST00000572933.1	+	40	7792	c.6332A>C	c.(6331-6333)aAc>aCc	p.N2111T	DNAH2_ENST00000389173.2_Missense_Mutation_p.N2111T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2111	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGAGACCCTAACTTCAACATT	0.597													False	0	False	17:7689644	0	C	7689644	A	C	7689644	3	2	88	1	0	0	0	0	1	0	0	0	4632	43	2	4	6486	4	DNAH2	17	7689644	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22380	7689644	73505566	16225	23937											
DNAH2	146754	broad.mit.edu	37	chr17	7691221	7691221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctggcaatggcctctcCggccactgtatcccgctgcg	12	16	1	0	rs142583624		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7691221C>T	ENST00000572933.1	+	43	8107	c.6647C>T	c.(6646-6648)cCg>cTg	p.P2216L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P2216L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2216	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGGCCTCTCCGGCCACTGTA	0.532													False	0	False	17:7691221	0	T	7691221	C	T	7691221	3	4	88	1	0	0	0	0	1	0	0	0	4632	652	23	1	6813	1	DNAH2	17	7691221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1577	7691221	73503989	16226	23938											
DNAH2	146754	broad.mit.edu	37	chr17	7691258	7691258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggatggtctacactgaCtacgctgacctgggctggaa	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7691258C>A	ENST00000572933.1	+	43	8144	c.6684C>A	c.(6682-6684)gaC>gaA	p.D2228E	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2228E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2228	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTACACTGACTACGCTGACC	0.547													False	0	False	17:7691258	0	A	7691258	C	A	7691258	3	1	88	1	0	0	0	0	1	0	0	0	4632	564	20	3	6850	3	DNAH2	17	7691258	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37	7691258	73503952	16227	23939											
DNAH2	146754	broad.mit.edu	37	chr17	7699832	7699832	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgatcaatcagaagcttcaGgactttgaggaagaggtgaa	12	5	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7699832G>T	ENST00000572933.1	+	50	9185	c.7725G>T	c.(7723-7725)caG>caT	p.Q2575H	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2575H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2575	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAAGCTTCAGGACTTTGAGG	0.562													False	0	False	17:7699832	0	T	7699832	G	T	7699832	3	4	88	1	0	0	0	0	1	0	0	0	4632	991	35	3	7919	3	DNAH2	17	7699832	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8574	7699832	73495378	16228	23940											
DNAH2	146754	broad.mit.edu	37	chr17	7702026	7702026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatctctacaagcctgatgAatttgaagaggtaggattcc	9	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7702026A>G	ENST00000572933.1	+	55	10009	c.8549A>G	c.(8548-8550)gAa>gGa	p.E2850G	DNAH2_ENST00000389173.2_Missense_Mutation_p.E2850G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2850	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAGCCTGATGAATTTGAAGAG	0.507													False	0	False	17:7702026	0	G	7702026	A	G	7702026	3	3	88	1	0	0	0	0	1	0	0	0	4632	246	9	4	8763	4	DNAH2	17	7702026	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2194	7702026	73493184	16229	23941											
DNAH2	146754	broad.mit.edu	37	chr17	7735942	7735942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctggacccgggacttgGccatgcgtgtggagcagttt	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7735942G>A	ENST00000572933.1	+	83	14232	c.12772G>A	c.(12772-12774)Gcc>Acc	p.A4258T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A4258T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4258					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCGGGACTTGGCCATGCGTGT	0.572													False	0	False	17:7735942	0	A	7735942	G	A	7735942	3	1	88	1	0	0	0	0	1	0	0	0	4632	1203	42	2	13098	2	DNAH2	17	7735942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33916	7735942	73459268	16230	23942											
KDM6B	23135	broad.mit.edu	37	chr17	7750937	7750937	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggggccctcggcacacaGcagtcggaaaccgttcttgg	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7750937G>T	ENST00000254846.5	+	11	1720	c.1331G>T	c.(1330-1332)aGc>aTc	p.S444I	KDM6B_ENST00000448097.2_Missense_Mutation_p.S444I	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	444	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCGGCACACAGCAGTCGGAAA	0.657													False	0	True	17:7750937	0	T	7750937	G	T	7750937	3	4	88	1	0	0	0	0	1	0	0	0	8188	971	34	3	1361	3	KDM6B	17	7750937	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14995	7750937	73444273	16231	23943											
KDM6B	23135	broad.mit.edu	37	chr17	7751581	7751581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccccagcctgtgccgcccGgggttggggagctgcctgcc	15	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7751581G>A	ENST00000254846.5	+	11	2364	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	KDM6B_ENST00000448097.2_Missense_Mutation_p.G659R	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	659	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGTGCCGCCCGGGGTTGGGGA	0.687													False	0	True	17:7751581	0	A	7751581	G	A	7751581	3	1	88	1	0	0	0	0	1	0	0	0	8188	1116	39	1	2005	1	KDM6B	17	7751581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	644	7751581	73443629	16232	23944											
KDM6B	23135	broad.mit.edu	37	chr17	7752715	7752715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcgtgagaagtcccggcccGatcttggcggggcctccaag	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7752715G>A	ENST00000254846.5	+	11	3498	c.3109G>A	c.(3109-3111)Gat>Aat	p.D1037N	KDM6B_ENST00000448097.2_Missense_Mutation_p.D1037N	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1037					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GTCCCGGCCCGATCTTGGCGG	0.662													False	0	True	17:7752715	0	A	7752715	G	A	7752715	3	1	88	1	0	0	0	0	1	0	0	0	8188	1058	37	1	3139	1	KDM6B	17	7752715	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1134	7752715	73442495	16233	23945											
KDM6B	23135	broad.mit.edu	37	chr17	7754506	7754506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaccaccattgccaagtacGcacagtaccaggcctcatcc	6	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7754506G>A	ENST00000254846.5	+	14	4230	c.3841G>A	c.(3841-3843)Gca>Aca	p.A1281T	KDM6B_ENST00000448097.2_Missense_Mutation_p.A1281T	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1281					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGCCAAGTACGCACAGTACCA	0.617													False	0	False	17:7754506	0	A	7754506	G	A	7754506	3	1	88	1	0	0	0	0	1	0	0	0	8188	1087	38	1	3883	1	KDM6B	17	7754506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1791	7754506	73440704	16234	23946											
LSMD1	84316	broad.mit.edu	37	chr17	7760629	7760629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccagaggctgccgggaGctgcagttccccaccccctc	11	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7760629G>A	ENST00000333775.5	-	1	543	c.113C>T	c.(112-114)gCt>gTt	p.A38V	LSMD1_ENST00000575771.1_Intron|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000575071.1_Intron|LSMD1_ENST00000335155.5_Intron|LSMD1_ENST00000575208.1_Intron	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN	LSM domain containing 1	0						cytoplasm|nucleus				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				GCTGCCGGGAGCTGCAGTTCC	0.682													False	0	False	17:7760629	0	A	7760629	G	A	7760629	3	1	88	1	0	0	0	0	1	0	0	0	9124	971	34	2	416	2	LSMD1	17	7760629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6123	7760629	73434581	16235	23947											
CHD3	1107	broad.mit.edu	37	chr17	7800528	7800528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagcgtaaagtgaaagaccCgcactatgctgagatggagg	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7800528C>A	ENST00000380358.4	+	11	2013	c.2012C>A	c.(2011-2013)cCg>cAg	p.P671Q	CHD3_ENST00000358181.4_Missense_Mutation_p.P612Q|CHD3_ENST00000330494.7_Missense_Mutation_p.P612Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	612	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTGAAAGACCCGCACTATGCT	0.547													False	0	True	17:7800528	0	A	7800528	C	A	7800528	3	1	88	1	0	0	0	0	1	0	0	0	3349	652	23	3	2158	3	CHD3	17	7800528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39899	7800528	73394682	16236	23948											
CHD3	1107	broad.mit.edu	37	chr17	7803329	7803329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtggtagatgaggcccatcGactcaagaacaaccagtcca	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7803329G>A	ENST00000380358.4	+	16	2838	c.2837G>A	c.(2836-2838)cGa>cAa	p.R946Q	CHD3_ENST00000358181.4_Missense_Mutation_p.R887Q|CHD3_ENST00000330494.7_Missense_Mutation_p.R887Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	887					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GAGGCCCATCGACTCAAGAAC	0.468													False	0	False	17:7803329	0	A	7803329	G	A	7803329	3	1	88	1	0	0	0	0	1	0	0	0	3349	1058	37	1	3003	1	CHD3	17	7803329	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2801	7803329	73391881	16237	23949											
CHD3	1107	broad.mit.edu	37	chr17	7806616	7806616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgggctcatcggattggCcaggccaacaaagtgatgat	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7806616C>T	ENST00000380358.4	+	23	3700	c.3699C>T	c.(3697-3699)ggC>ggT	p.G1233G	CHD3_ENST00000358181.4_Silent_p.G1174G|CHD3_ENST00000330494.7_Silent_p.G1174G	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1174					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATCGGATTGGCCAGGCCAACA	0.582													False	0	True	17:7806616	0	T	7806616	C	T	7806616	2	4	88	1	0	0	0	0	0	0	0	1	3349	726	26	2		2	CHD3	17	7806616	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3287	7806616	73388594	16238	23950											
CHD3	1107	broad.mit.edu	37	chr17	7810694	7810694	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccccagcccagccccAtcacttggggagcggctgga	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7810694A>G	ENST00000380358.4	+	32	4990	c.4989A>G	c.(4987-4989)ccA>ccG	p.P1663P	CHD3_ENST00000358181.4_Silent_p.P1604P|CHD3_ENST00000330494.7_Silent_p.P1604P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1604	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCCCAGCCCCATCACTTGGGG	0.647													False	0	True	17:7810694	0	G	7810694	A	G	7810694	2	3	88	1	0	0	0	0	0	0	0	1	3349	204	8	4		4	CHD3	17	7810694	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4078	7810694	73384516	16239	23951											
CHD3	1107	broad.mit.edu	37	chr17	7811277	7811277	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacggtccaatgggcgaCgagaggaaaagacagagaag	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7811277C>T	ENST00000380358.4	+	34	5270	c.5269C>T	c.(5269-5271)Cga>Tga	p.R1757*	CHD3_ENST00000358181.4_Nonsense_Mutation_p.R1664*|CHD3_ENST00000330494.7_Nonsense_Mutation_p.R1698*	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1698	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAATGGGCGACGAGAGGAAAA	0.557													False	0	False	17:7811277	0	T	7811277	C	T	7811277	4	4	88	1	0	0	0	0	0	1	0	0	3349	528	19	1	5507	1	CHD3	17	7811277	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	583	7811277	73383933	16240	23952											
CHD3	1107	broad.mit.edu	37	chr17	7814233	7814233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcgccgcacccgtaggGgccctggccgccgcaggcgc	15	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7814233G>A	ENST00000380358.4	+	39	6001	c.6000G>A	c.(5998-6000)ggG>ggA	p.G2000G	CHD3_ENST00000358181.4_Silent_p.G1907G|CHD3_ENST00000330494.7_Silent_p.G1941G	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1941					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACCCGTAGGGGCCCTGGCCG	0.642													False	0	True	17:7814233	0	A	7814233	G	A	7814233	2	1	88	1	0	0	0	0	0	0	0	1	3349	1219	43	2		2	CHD3	17	7814233	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2956	7814233	73380977	16241	23953											
TRAPPC1	58485	broad.mit.edu	37	chr17	7834371	7834371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatctcggatgggtcccacGcccaagtcagtattcatgac	9	13	3	1	rs150887254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7834371G>A	ENST00000303731.4	-	3	382	c.267C>T	c.(265-267)ggC>ggT	p.G89G	TRAPPC1_ENST00000540486.1_Silent_p.G89G	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	89					ER to Golgi vesicle-mediated transport	endoplasmic reticulum				breast(1)|lung(2)	3		Prostate(122;0.173)				TGGGTCCCACGCCCAAGTCAG	0.562													False	0	True	17:7834371	0	A	7834371	G	A	7834371	2	1	88	1	0	0	0	0	0	0	0	1	16539	1074	38	1		1	TRAPPC1	17	7834371	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20138	7834371	73360839	16242	23954											
CNTROB	116840	broad.mit.edu	37	chr17	7840525	7840525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttctgaggccatggaggCcctgaatcgtgagcaggaaa	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7840525C>T	ENST00000380262.3	+	7	1797	c.872C>T	c.(871-873)gCc>gTc	p.A291V	CNTROB_ENST00000380255.3_Missense_Mutation_p.A291V|CNTROB_ENST00000565740.1_Missense_Mutation_p.A291V|CNTROB_ENST00000563694.1_Missense_Mutation_p.A291V	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	291					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCCATGGAGGCCCTGAATCGT	0.498													False	0	True	17:7840525	0	T	7840525	C	T	7840525	3	4	88	1	0	0	0	0	1	0	0	0	3674	739	26	2	898	2	CNTROB	17	7840525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6154	7840525	73354685	16243	23955											
CNTROB	116840	broad.mit.edu	37	chr17	7846813	7846813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaggagagcagcctacgGcaagcagcctccctcaggga	13	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7846813G>A	ENST00000380262.3	+	10	2341	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R	CNTROB_ENST00000380255.3_Silent_p.R472R|CNTROB_ENST00000565740.1_Silent_p.R472R|CNTROB_ENST00000563694.1_Silent_p.R472R	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	472	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGCCTACGGCAAGCAGCCT	0.622													False	0	False	17:7846813	0	A	7846813	G	A	7846813	2	1	88	1	0	0	0	0	0	0	0	1	3674	1190	42	2		2	CNTROB	17	7846813	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6288	7846813	73348397	16244	23956											
ALOX12B	242	broad.mit.edu	37	chr17	7976504	7976504	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagggtccagagcaccaGcagcgtgatgcacgtggtct	15	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7976504G>A	ENST00000319144.4	-	14	2148	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	630	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CAGAGCACCAGCAGCGTGATG	0.627										Multiple Myeloma(8;0.094)			False	0	False	17:7976504	0	A	7976504	G	A	7976504	2	1	88	1	0	0	0	0	0	0	0	1	537	962	34	2		2	ALOX12B	17	7976504	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129691	7976504	73218706	16245	23957											
ALOX12B	242	broad.mit.edu	37	chr17	7978974	7978974	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcacccaagactgcaattcCggatcaccctccacggctgc	8	17	1	1	rs149967531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7978974C>A	ENST00000319144.4	-	12	1853	c.1593G>T	c.(1591-1593)ccG>ccT	p.P531P	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	531	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ACTGCAATTCCGGATCACCCT	0.582										Multiple Myeloma(8;0.094)			False	0	False	17:7978974	0	A	7978974	C	A	7978974	2	1	88	1	0	0	0	0	0	0	0	1	537	639	23	3		3	ALOX12B	17	7978974	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2470	7978974	73216236	16246	23958											
ALOX12B	242	broad.mit.edu	37	chr17	7984225	7984225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccggttggggttgcgatgCctccgcaccggagggcggta	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7984225C>T	ENST00000319144.4	-	4	764	c.504G>A	c.(502-504)agG>agA	p.R168R	AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	168	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGTTGCGATGCCTCCGCACCG	0.652										Multiple Myeloma(8;0.094)			False	0	False	17:7984225	0	T	7984225	C	T	7984225	2	4	88	1	0	0	0	0	0	0	0	1	537	738	26	2		2	ALOX12B	17	7984225	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5251	7984225	73210985	16247	23959											
PER1	5187	broad.mit.edu	37	chr17	8051103	8051103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgttgcgggcacagaagCggataggggagtggtcaaag	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8051103C>T	ENST00000317276.4	-	11	1514	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	PER1_ENST00000354903.5_Missense_Mutation_p.R410H|PER1_ENST00000581082.1_Missense_Mutation_p.R406H	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	426	PAC.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCACAGAAGCGGATAGGGGA	0.617			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					False	0	False	17:8051103	0	T	8051103	C	T	8051103	3	4	88	1	0	0	0	0	1	0	0	0	11797	768	27	1	2647	1	PER1	17	8051103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66878	8051103	73144107	16248	23960											
PER1	5187	broad.mit.edu	37	chr17	8053110	8053110	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcagacgtgatgtgctccAgctcctccagggtataggtg	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8053110A>G	ENST00000317276.4	-	5	851	c.614T>C	c.(613-615)cTg>cCg	p.L205P	PER1_ENST00000354903.5_Missense_Mutation_p.L189P|PER1_ENST00000581082.1_Missense_Mutation_p.L205P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	205					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GATGTGCTCCAGCTCCTCCAG	0.597			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					False	0	False	17:8053110	0	G	8053110	A	G	8053110	3	3	88	1	0	0	0	0	1	0	0	0	11797	188	7	4	3334	4	PER1	17	8053110	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2007	8053110	73142100	16249	23961											
PFAS	5198	broad.mit.edu	37	chr17	8161476	8161476	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtttagtgggggcattgggtCcatggaagctgaccacataa	14	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8161476C>A	ENST00000314666.6	+	11	1428	c.1295C>A	c.(1294-1296)tCc>tAc	p.S432Y	PFAS_ENST00000545834.1_Missense_Mutation_p.S8Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	432					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGCATTGGGTCCATGGAAGCT	0.607													False	0	False	17:8161476	0	A	8161476	C	A	8161476	3	1	88	1	0	0	0	0	1	0	0	0	11823	855	30	3	1333	3	PFAS	17	8161476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108366	8161476	73033734	16250	23962											
PFAS	5198	broad.mit.edu	37	chr17	8166542	8166542	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaggcccccaagggaaAccccatctgcagccttcatg	11	14	2	0	rs35976967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8166542A>G	ENST00000314666.6	+	13	1659	c.1526A>G	c.(1525-1527)aAc>aGc	p.N509S	PFAS_ENST00000545834.1_Missense_Mutation_p.N85S|PFAS_ENST00000585319.1_3'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	509					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCAAGGGAAACCCCATCTGC	0.577													False	0	True	17:8166542	0	G	8166542	A	G	8166542	3	3	88	1	0	0	0	0	1	0	0	0	11823	43	2	4	1572	4	PFAS	17	8166542	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5066	8166542	73028668	16251	23963											
PFAS	5198	broad.mit.edu	37	chr17	8168391	8168391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtcgccgcccggctggCcgtggccgaagccctcacca	12	17	1	0	rs117044677	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8168391C>T	ENST00000314666.6	+	18	2361	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V	PFAS_ENST00000545834.1_Missense_Mutation_p.A319V	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	743					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCCGGCTGGCCGTGGCCGAA	0.632													False	0	True	17:8168391	0	T	8168391	C	T	8168391	3	4	88	1	0	0	0	0	1	0	0	0	11823	739	26	2	2294	2	PFAS	17	8168391	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1849	8168391	73026819	16252	23964											
PFAS	5198	broad.mit.edu	37	chr17	8168671	8168671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagggcgcagctttggcGgatgcctgtgaggctatggt	20	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8168671G>A	ENST00000314666.6	+	19	2479	c.2346G>A	c.(2344-2346)gcG>gcA	p.A782A	PFAS_ENST00000545834.1_Silent_p.A358A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	782					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGCTTTGGCGGATGCCTGTG	0.627													False	0	False	17:8168671	0	A	8168671	G	A	8168671	2	1	88	1	0	0	0	0	0	0	0	1	11823	1103	39	1		1	PFAS	17	8168671	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	280	8168671	73026539	16253	23965											
PFAS	5198	broad.mit.edu	37	chr17	8169597	8169597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgacggaggcctcgTcacatgcctgctggagatgg	15	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8169597T>C	ENST00000314666.6	+	22	2880	c.2747T>C	c.(2746-2748)gTc>gCc	p.V916A	PFAS_ENST00000545834.1_Missense_Mutation_p.V492A	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	916					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGAGGCCTCGTCACATGCCTG	0.592													False	0	False	17:8169597	0	C	8169597	T	C	8169597	3	2	88	1	0	0	0	0	1	0	0	0	11823	1667	58	4	2829	4	PFAS	17	8169597	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	926	8169597	73025613	16254	23966											
PFAS	5198	broad.mit.edu	37	chr17	8171913	8171913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgaggcgcttccggaagCggccagacaccttcagcctg	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8171913C>T	ENST00000314666.6	+	27	3578	c.3445C>T	c.(3445-3447)Cgg>Tgg	p.R1149W	PFAS_ENST00000545834.1_Missense_Mutation_p.R725W	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1149	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTCCGGAAGCGGCCAGACAC	0.627													False	0	False	17:8171913	0	T	8171913	C	T	8171913	3	4	88	1	0	0	0	0	1	0	0	0	11823	759	27	1	3547	1	PFAS	17	8171913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2316	8171913	73023297	16255	23967											
SLC25A35	399512	broad.mit.edu	37	chr17	8197811	8197811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatggccccagctgctgcGctgcgggcaggactgtgggt	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8197811G>A	ENST00000380067.2	-	1	359	c.315C>T	c.(313-315)agC>agT	p.S105S	SLC25A35_ENST00000577745.1_Silent_p.S105S|SLC25A35_ENST00000396278.1_Silent_p.S105S|SLC25A35_ENST00000580340.1_Silent_p.S105S|SLC25A35_ENST00000579192.1_Silent_p.S105S	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	105					transport	integral to membrane|mitochondrial inner membrane				breast(2)|large_intestine(2)|lung(2)	6						CAGCTGCTGCGCTGCGGGCAG	0.632													False	0	True	17:8197811	0	A	8197811	G	A	8197811	2	1	88	1	0	0	0	0	0	0	0	1	14579	1078	38	1		1	SLC25A35	17	8197811	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25898	8197811	72997399	16256	23968											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215524	8215524	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccaatgatgcaccaacccCaatgtgcacccccatcttct	4	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8215524C>A	ENST00000361926.3	+	2	277	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P56Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	56	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCACCAACCCCAATGTGCACC	0.622													False	0	True	17:8215524	0	A	8215524	C	A	8215524	3	1	88	1	0	0	0	0	1	0	0	0	900	594	21	3	169	3	ARHGEF15	17	8215524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17713	8215524	72979686	16257	23969											
ARHGEF15	22899	broad.mit.edu	37	chr17	8222373	8222373	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccatcgctccctggtccaGgcccagcaggttccggatcc	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8222373G>T	ENST00000361926.3	+	13	2192	c.2082G>T	c.(2080-2082)caG>caT	p.Q694H	ARHGEF15_ENST00000582060.1_Splice_Site|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.Q694H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	694					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCCTGGTCCAGGCCCAGCAGG	0.642													False	0	False	17:8222373	0	T	8222373	G	T	8222373	3	4	88	1	0	0	0	0	1	0	0	0	900	991	35	3	2128	3	ARHGEF15	17	8222373	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6849	8222373	72972837	16258	23970											
ODF4	146852	broad.mit.edu	37	chr17	8243676	8243676	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtcgtggccttctccaagAaatggctggacctctctagg	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8243676A>C	ENST00000328248.2	+	1	495	c.307A>C	c.(307-309)Aaa>Caa	p.K103Q	ODF4_ENST00000584943.1_Intron	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	103					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTCTCCAAGAAATGGCTGGA	0.557													False	0	True	17:8243676	0	C	8243676	A	C	8243676	3	2	88	1	0	0	0	0	1	0	0	0	10901	247	9	4	309	4	ODF4	17	8243676	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21303	8243676	72951534	16259	23971											
KRBA2	124751	broad.mit.edu	37	chr17	8272507	8272507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggttctgaagcttcaGgagtgggatccatgtcatcg	14	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8272507G>A	ENST00000396267.1	-	2	2009	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	KRBA2_ENST00000331336.2_Missense_Mutation_p.P475L|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	475	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TGAAGCTTCAGGAGTGGGATC	0.522													False	0	False	17:8272507	0	A	8272507	G	A	8272507	3	1	88	1	0	0	0	0	1	0	0	0	8490	1000	35	2	58	2	KRBA2	17	8272507	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28831	8272507	72922703	16260	23972											
KRBA2	124751	broad.mit.edu	37	chr17	8274848	8274848	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagagggcaccaggaatgaaGgcatgcagcataaaggactc	14	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8274848G>T	ENST00000331336.2	-	1	10	c.5C>A	c.(4-6)cCt>cAt	p.P2H	KRBA2_ENST00000396267.1_Intron|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	2					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CAGGAATGAAGGCATGCAGCA	0.483													False	0	False	17:8274848	0	T	8274848	G	T	8274848	3	4	88	1	0	0	0	0	1	0	0	0	8490	1000	35	3	1481	3	KRBA2	17	8274848	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2341	8274848	72920362	16261	23973											
NDEL1	81565	broad.mit.edu	37	chr17	8354153	8354153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaagtaactagaaagtcGgctcctagctctccaactct	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8354153G>A	ENST00000334527.7	+	6	779	c.582G>A	c.(580-582)tcG>tcA	p.S194S	NDEL1_ENST00000299734.7_Silent_p.S194S|NDEL1_ENST00000380025.4_Silent_p.S194S|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_Silent_p.S194S	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	194	Interaction with CENPF.|Interaction with NEFL (By similarity).|Interaction with YWHAE (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						CTAGAAAGTCGGCTCCTAGCT	0.468													False	0	False	17:8354153	0	A	8354153	G	A	8354153	2	1	88	1	0	0	0	0	0	0	0	1	10312	1103	39	1		1	NDEL1	17	8354153	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79305	8354153	72841057	16262	23974											
NDEL1	81565	broad.mit.edu	37	chr17	8358148	8358148	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggtaccagtccactaacTccctctgctaggatatcagc	7	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8358148T>C	ENST00000334527.7	+	7	932	c.735T>C	c.(733-735)acT>acC	p.T245T	NDEL1_ENST00000299734.7_Silent_p.T245T|NDEL1_ENST00000380025.4_Silent_p.T245T|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_Silent_p.T245T	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	245	Interaction with CENPF.|Interaction with DISC1.|Interaction with KATNA1 (By similarity).|Interaction with NEFL (By similarity).|Interaction with YWHAE (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						GTCCACTAACTCCCTCTGCTA	0.403													False	0	True	17:8358148	0	C	8358148	T	C	8358148	2	2	88	1	0	0	0	0	0	0	0	1	10312	1538	54	4		4	NDEL1	17	8358148	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3995	8358148	72837062	16263	23975											
MYH10	4628	broad.mit.edu	37	chr17	8380302	8380302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgcgttggcacgcgtcGcttcttcttctgcttcctcc	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8380302G>A	ENST00000360416.3	-	42	5909	c.5771C>T	c.(5770-5772)gCg>gTg	p.A1924V	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Missense_Mutation_p.A1909V|MYH10_ENST00000396239.1_Missense_Mutation_p.A1914V|MYH10_ENST00000269243.4_Missense_Mutation_p.A1893V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1893					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGCACGCGTCGCTTCTTCTTC	0.572													False	0	True	17:8380302	0	A	8380302	G	A	8380302	3	1	88	1	0	0	0	0	1	0	0	0	10097	1087	38	1	260	1	MYH10	17	8380302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22154	8380302	72814908	16264	23976											
MYH10	4628	broad.mit.edu	37	chr17	8381680	8381680	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttatactggtccgcgtgTcgacgctcatcctcaacctg	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8381680T>C	ENST00000360416.3	-	41	5820	c.5682A>G	c.(5680-5682)cgA>cgG	p.R1894R	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Silent_p.R1879R|MYH10_ENST00000396239.1_Silent_p.R1884R|MYH10_ENST00000269243.4_Silent_p.R1863R	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1863					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGTCCGCGTGTCGACGCTCAT	0.542													False	0	False	17:8381680	0	C	8381680	T	C	8381680	2	2	88	1	0	0	0	0	0	0	0	1	10097	1654	58	4		4	MYH10	17	8381680	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1378	8381680	72813530	16265	23977											
MYH10	4628	broad.mit.edu	37	chr17	8390805	8390805	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgagctttgttcgcagcctcGatttgggcttcgaggtcctt	12	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8390805G>A	ENST00000360416.3	-	36	5130	c.4992C>T	c.(4990-4992)atC>atT	p.I1664I	MYH10_ENST00000396239.1_Silent_p.I1654I|MYH10_ENST00000269243.4_Silent_p.I1633I|MYH10_ENST00000379980.4_Silent_p.I1649I	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1633					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCGCAGCCTCGATTTGGGCTT	0.552													False	0	False	17:8390805	0	A	8390805	G	A	8390805	2	1	88	1	0	0	0	0	0	0	0	1	10097	1048	37	1		1	MYH10	17	8390805	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9125	8390805	72804405	16266	23978											
MYH10	4628	broad.mit.edu	37	chr17	8445487	8445487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaatcgatgaagttccactCgatgccttcgcgctggtatt	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8445487C>T	ENST00000360416.3	-	14	1681	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	MYH10_ENST00000396239.1_Missense_Mutation_p.E505K|MYH10_ENST00000269243.4_Missense_Mutation_p.E505K|MYH10_ENST00000379980.4_Missense_Mutation_p.E521K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	505	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AAGTTCCACTCGATGCCTTCG	0.473													False	0	False	17:8445487	0	T	8445487	C	T	8445487	3	4	88	1	0	0	0	0	1	0	0	0	10097	893	31	1	4533	1	MYH10	17	8445487	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54682	8445487	72749723	16267	23979											
MYH10	4628	broad.mit.edu	37	chr17	8448851	8448851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccagagctttattgatgCgatgaacgagccagcgaaag	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8448851C>T	ENST00000360416.3	-	13	1484	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H	MYH10_ENST00000396239.1_Missense_Mutation_p.R439H|MYH10_ENST00000269243.4_Missense_Mutation_p.R439H|MYH10_ENST00000379980.4_Missense_Mutation_p.R455H	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	439	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTATTGATGCGATGAACGAG	0.428													False	0	False	17:8448851	0	T	8448851	C	T	8448851	3	4	88	1	0	0	0	0	1	0	0	0	10097	768	27	1	4734	1	MYH10	17	8448851	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3364	8448851	72746359	16268	23980											
CCDC42	146849	broad.mit.edu	37	chr17	8633478	8633478	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actcgctgttgttccttcttTttcacctctgcccagatgtc	6	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8633478T>G	ENST00000293845.3	-	7	1147	c.921A>C	c.(919-921)aaA>aaC	p.K307N	CCDC42_ENST00000539522.2_Missense_Mutation_p.K233N	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	307										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTTCCTTCTTTTTCACCTCTG	0.542													False	0	True	17:8633478	0	G	8633478	T	G	8633478	3	3	88	1	0	0	0	0	1	0	0	0	2835	1838	64	4	33	4	CCDC42	17	8633478	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	184627	8633478	72561732	16269	23981											
CCDC42	146849	broad.mit.edu	37	chr17	8638511	8638511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttcagcgtggccatcttaAtggtgccaagcaggagggtc	15	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8638511A>G	ENST00000293845.3	-	6	1002	c.776T>C	c.(775-777)aTt>aCt	p.I259T	CCDC42_ENST00000539522.2_Missense_Mutation_p.I185T	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	259										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GGCCATCTTAATGGTGCCAAG	0.572													False	0	False	17:8638511	0	G	8638511	A	G	8638511	3	3	88	1	0	0	0	0	1	0	0	0	2835	101	4	4	182	4	CCDC42	17	8638511	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5033	8638511	72556699	16270	23982											
CCDC42	146849	broad.mit.edu	37	chr17	8638779	8638779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctcattgttttgctgcaGgatctcatcatccttttcct	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8638779G>T	ENST00000293845.3	-	5	869	c.643C>A	c.(643-645)Ctg>Atg	p.L215M	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	215				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TTTTGCTGCAGGATCTCATCA	0.637													False	0	False	17:8638779	0	T	8638779	G	T	8638779	3	4	88	1	0	0	0	0	1	0	0	0	2835	991	35	3	319	3	CCDC42	17	8638779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268	8638779	72556431	16271	23983											
MFSD6L	162387	broad.mit.edu	37	chr17	8702270	8702270	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccagaaggcagcgattaGgtgcttggttcccattaggg	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8702270G>T	ENST00000329805.4	-	1	397	c.169C>A	c.(169-171)Cta>Ata	p.L57I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	57						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCAGCGATTAGGTGCTTGGTT	0.657													False	0	False	17:8702270	0	T	8702270	G	T	8702270	3	4	88	1	0	0	0	0	1	0	0	0	9603	991	35	3	1595	3	MFSD6L	17	8702270	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63491	8702270	72492940	16272	23984											
PIK3R6	146850	broad.mit.edu	37	chr17	8725208	8725208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaggatcagcccagtgGcccgcaggaaacggtgacct	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8725208G>A	ENST00000311434.9	-	18	2071	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	612					platelet activation	cytosol											CAGCCCAGTGGCCCGCAGGAA	0.587													False	0	True	17:8725208	0	A	8725208	G	A	8725208	3	1	88	1	0	0	0	0	1	0	0	0	11992	1203	42	2	445	2	PIK3R6	17	8725208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22938	8725208	72470002	16273	23985											
PIK3R6	146850	broad.mit.edu	37	chr17	8731458	8731458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacggggatgtagtagaGctgcaggctgagtctgggag	18	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8731458G>A	ENST00000311434.9	-	12	1602	c.1363C>T	c.(1363-1365)Ctc>Ttc	p.L455F	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	455					platelet activation	cytosol											ATGTAGTAGAGCTGCAGGCTG	0.652													False	0	False	17:8731458	0	A	8731458	G	A	8731458	3	1	88	1	0	0	0	0	1	0	0	0	11992	971	34	2	936	2	PIK3R6	17	8731458	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6250	8731458	72463752	16274	23986											
PIK3R6	146850	broad.mit.edu	37	chr17	8741937	8741937	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctcttaccgggatctcGctcgaccttcttgtgcaggg	13	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8741937G>A	ENST00000311434.9	-	4	372	c.133C>T	c.(133-135)Cga>Tga	p.R45*	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	45					platelet activation	cytosol											CCGGGATCTCGCTCGACCTTC	0.592													False	0	True	17:8741937	0	A	8741937	G	A	8741937	4	1	88	1	0	0	0	0	0	1	0	0	11992	1095	38	1	2198	1	PIK3R6	17	8741937	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10479	8741937	72453273	16275	23987											
PIK3R5	23533	broad.mit.edu	37	chr17	8791855	8791855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgatgaacttctgcccagGcctgcggtggcctcggcgtt	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8791855G>A	ENST00000447110.1	-	10	1373	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	PIK3R5_ENST00000584803.1_Missense_Mutation_p.P417S|PIK3R5_ENST00000581552.1_Missense_Mutation_p.P417S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	417					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTCTGCCCAGGCCTGCGGTGG	0.637													False	0	False	17:8791855	0	A	8791855	G	A	8791855	3	1	88	1	0	0	0	0	1	0	0	0	11991	1203	42	2	1433	2	PIK3R5	17	8791855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49918	8791855	72403355	16276	23988											
STX8	9482	broad.mit.edu	37	chr17	9471724	9471724	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttttctttcatattgattTcgttgttgaattttctcagc	5	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9471724T>C	ENST00000306357.4	-	2	508	c.81A>G	c.(79-81)cgA>cgG	p.R27R	STX8_ENST00000573373.1_5'UTR|STX8_ENST00000574431.1_Intron	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8						transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						CATATTGATTTCGTTGTTGAA	0.368													False	0	True	17:9471724	0	C	9471724	T	C	9471724	2	2	88	1	0	0	0	0	0	0	0	1	15433	1770	62	4		4	STX8	17	9471724	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	679869	9471724	71723486	16277	23989											
WDR16	146845	broad.mit.edu	37	chr17	9489210	9489210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacttcctacagggtcatgGcaacaacgtctcctgcttgg	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9489210G>A	ENST00000352665.5	+	2	260	c.191G>A	c.(190-192)gGc>gAc	p.G64D	WDR16_ENST00000576499.1_Missense_Mutation_p.G64D|WDR16_ENST00000299764.5_Missense_Mutation_p.G74D|WDR16_ENST00000396219.3_Intron	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	64						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGGGTCATGGCAACAACGTC	0.473													False	0	False	17:9489210	0	A	9489210	G	A	9489210	3	1	88	1	0	0	0	0	1	0	0	0	17360	1203	42	2	197	2	WDR16	17	9489210	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17486	9489210	71706000	16278	23990											
WDR16	146845	broad.mit.edu	37	chr17	9538792	9538792	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaacacaagtcatcagTgtcctgcattagggtgaaga	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9538792T>C	ENST00000352665.5	+	11	1460	c.1391T>C	c.(1390-1392)gTg>gCg	p.V464A	WDR16_ENST00000299764.5_Missense_Mutation_p.V474A|WDR16_ENST00000396219.3_Missense_Mutation_p.V396A|WDR16_ENST00000576714.1_3'UTR	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	464						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGTCATCAGTGTCCTGCATT	0.537													False	0	False	17:9538792	0	C	9538792	T	C	9538792	3	2	88	1	0	0	0	0	1	0	0	0	17360	1696	59	4	1433	4	WDR16	17	9538792	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49582	9538792	71656418	16279	23991											
USP43	124739	broad.mit.edu	37	chr17	9631500	9631500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtgtcgctgttgacgggCactgcgggtgaggatgagaa	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9631500C>T	ENST00000285199.7	+	15	2661	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Silent_p.G850G	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TGTTGACGGGCACTGCGGGTG	0.597													False	0	True	17:9631500	0	T	9631500	C	T	9631500	2	4	88	1	0	0	0	0	0	0	0	1	17158	697	25	2		2	USP43	17	9631500	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92708	9631500	71563710	16280	23992											
GLP2R	9340	broad.mit.edu	37	chr17	9745927	9745927	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgagaaccacagcttcaaGcaaaacgtgagtttgctcag	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9745927G>T	ENST00000262441.5	+	4	1011	c.498G>T	c.(496-498)aaG>aaT	p.K166N	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	166					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	ACAGCTTCAAGCAAAACGTGA	0.577													False	0	False	17:9745927	0	T	9745927	G	T	9745927	3	4	88	1	0	0	0	0	1	0	0	0	6498	962	34	3	512	3	GLP2R	17	9745927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114427	9745927	71449283	16281	23993											
GLP2R	9340	broad.mit.edu	37	chr17	9764515	9764515	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacacctggagaacacaGggtaggtaattcaccaggtg	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9764515G>T	ENST00000262441.5	+	8	1498	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W	GLP2R_ENST00000574745.1_Splice_Site_p.G149W	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	329					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GGAGAACACAGGGTAGGTAAT	0.458													False	0	True	17:9764515	0	T	9764515	G	T	9764515	5	4	88	1	0	0	0	0	0	0	1	0	6498	1014	35	3	1015	3	GLP2R	17	9764515	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18588	9764515	71430695	16282	23994											
GLP2R	9340	broad.mit.edu	37	chr17	9783772	9783772	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcatcactgatgatcAagttgaaggatttgcaaaac	7	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9783772A>C	ENST00000262441.5	+	11	1736	c.1223A>C	c.(1222-1224)cAa>cCa	p.Q408P	GLP2R_ENST00000574745.1_Missense_Mutation_p.Q228P	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	408					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	ACTGATGATCAAGTTGAAGGA	0.378													False	0	False	17:9783772	0	C	9783772	A	C	9783772	3	2	88	1	0	0	0	0	1	0	0	0	6498	130	5	4	1265	4	GLP2R	17	9783772	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19257	9783772	71411438	16283	23995											
GAS7	8522	broad.mit.edu	37	chr17	9821334	9821334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacgctttggttgaacatgTctgtttcatgccgcagctgc	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9821334T>C	ENST00000323816.4	-	14	1283	c.1121A>G	c.(1120-1122)gAc>gGc	p.D374G	GAS7_ENST00000542249.1_Missense_Mutation_p.D370G|GAS7_ENST00000580865.1_Missense_Mutation_p.D294G|GAS7_ENST00000579158.1_Missense_Mutation_p.D370G|GAS7_ENST00000437099.2_Missense_Mutation_p.D370G|GAS7_ENST00000396115.2_Missense_Mutation_p.D139G|GAS7_ENST00000540214.1_Missense_Mutation_p.D139G|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000432992.2_Missense_Mutation_p.D434G|GAS7_ENST00000585266.1_Missense_Mutation_p.D374G			O60861	GAS7_HUMAN	growth arrest-specific 7	438					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GTTGAACATGTCTGTTTCATG	0.637			T	MLL	AML*								False	0	False	17:9821334	0	C	9821334	T	C	9821334	3	2	88	1	0	0	0	0	1	0	0	0	6293	1667	58	4	137	4	GAS7	17	9821334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37562	9821334	71373876	16284	23996											
GAS7	8522	broad.mit.edu	37	chr17	9837492	9837492	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggaggggttaccttggcagaGaacttgaggtgaacttctgc	15	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9837492G>T	ENST00000323816.4	-	10	858	c.696C>A	c.(694-696)ttC>ttA	p.F232L	GAS7_ENST00000542249.1_Missense_Mutation_p.F228L|GAS7_ENST00000580865.1_Missense_Mutation_p.F152L|GAS7_ENST00000579158.1_Missense_Mutation_p.F228L|GAS7_ENST00000437099.2_Missense_Mutation_p.F228L|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000432992.2_Missense_Mutation_p.F292L|GAS7_ENST00000585266.1_Missense_Mutation_p.F232L			O60861	GAS7_HUMAN	growth arrest-specific 7	296	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CCTTGGCAGAGAACTTGAGGT	0.532			T	MLL	AML*								False	0	False	17:9837492	0	T	9837492	G	T	9837492	3	4	88	1	0	0	0	0	1	0	0	0	6293	933	33	3	578	3	GAS7	17	9837492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16158	9837492	71357718	16285	23997											
MYH13	8735	broad.mit.edu	37	chr17	10212991	10212991	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcggatttcagcatccaGcacgctctgcagggcctctg	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10212991G>A	ENST00000418404.3	-	33	4976	c.4813C>T	c.(4813-4815)Ctg>Ttg	p.L1605L	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.L1605L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1605					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCAGCATCCAGCACGCTCTGC	0.547													False	0	False	17:10212991	0	A	10212991	G	A	10212991	2	1	88	1	0	0	0	0	0	0	0	1	10099	962	34	2		2	MYH13	17	10212991	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	375499	10212991	70982219	16286	23998											
MYH13	8735	broad.mit.edu	37	chr17	10227477	10227477	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagaattcatctcctcttcCtcttccaatctctccgtcag	3	16	7	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10227477C>A	ENST00000418404.3	-	22	2959	c.2796G>T	c.(2794-2796)gaG>gaT	p.E932D	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.E932D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	932					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTCCTCTTCCTCTTCCAATC	0.458													False	0	True	17:10227477	0	A	10227477	C	A	10227477	3	1	88	1	0	0	0	0	1	0	0	0	10099	680	24	3	3096	3	MYH13	17	10227477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14486	10227477	70967733	16287	23999											
MYH13	8735	broad.mit.edu	37	chr17	10265484	10265484	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatggagaagatgtggggCggggcctcctggcgcttttt	18	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10265484C>T	ENST00000418404.3	-	4	619	c.456G>A	c.(454-456)ccG>ccA	p.P152P	MYH13_ENST00000252172.4_Silent_p.P152P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	152	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGATGTGGGGCGGGGCCTCCT	0.502													False	0	True	17:10265484	0	T	10265484	C	T	10265484	2	4	88	1	0	0	0	0	0	0	0	1	10099	755	27	1		1	MYH13	17	10265484	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38007	10265484	70929726	16288	24000											
MYH8	4626	broad.mit.edu	37	chr17	10293915	10293915	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatagattagcattggattgTtcctcctaagaatagagata	9	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10293915T>A	ENST00000403437.2	-	40	5764	c.5670A>T	c.(5668-5670)gaA>gaT	p.E1890D	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1890					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATTGGATTGTTCCTCCTAAG	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				False	0	False	17:10293915	0	A	10293915	T	A	10293915	3	1	88	1	0	0	0	0	1	0	0	0	10108	1722	60	5	147	5	MYH8	17	10293915	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28431	10293915	70901295	16289	24001											
MYH8	4626	broad.mit.edu	37	chr17	10299984	10299984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtgactccttctgggaggCctcaagttcagcctgagttt	11	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10299984C>T	ENST00000403437.2	-	32	4508	c.4414G>A	c.(4414-4416)Gcc>Acc	p.A1472T	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1472					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCTGGGAGGCCTCAAGTTCA	0.448									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				False	0	False	17:10299984	0	T	10299984	C	T	10299984	3	4	88	1	0	0	0	0	1	0	0	0	10108	739	26	2	1435	2	MYH8	17	10299984	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6069	10299984	70895226	16290	24002											
MYH8	4626	broad.mit.edu	37	chr17	10304205	10304205	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaactctttgatcttcTtctgtagttgaatttctaca	5	10	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10304205T>A	ENST00000403437.2	-	26	3420	c.3326A>T	c.(3325-3327)aAg>aTg	p.K1109M	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1109					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTGATCTTCTTCTGTAGTTG	0.343									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				False	0	True	17:10304205	0	A	10304205	T	A	10304205	3	1	88	1	0	0	0	0	1	0	0	0	10108	1609	56	5	2547	5	MYH8	17	10304205	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4221	10304205	70891005	16291	24003											
MYH8	4626	broad.mit.edu	37	chr17	10318882	10318882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgttcacagtctttccGgcaccagattctccgctgtc	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10318882G>A	ENST00000403437.2	-	7	649	c.555C>T	c.(553-555)gcC>gcT	p.A185A	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	185	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGTCTTTCCGGCACCAGATT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				False	0	False	17:10318882	0	A	10318882	G	A	10318882	2	1	88	1	0	0	0	0	0	0	0	1	10108	1103	39	1		1	MYH8	17	10318882	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14677	10318882	70876328	16292	24004											
MYH8	4626	broad.mit.edu	37	chr17	10323446	10323446	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatgttttagcatcaaaCggcttgttttgggcctcaat	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10323446C>T	ENST00000403437.2	-	3	193	c.99G>A	c.(97-99)ccG>ccA	p.P33P	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	33	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAGCATCAAACGGCTTGTTTT	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				False	0	True	17:10323446	0	T	10323446	C	T	10323446	2	4	88	1	0	0	0	0	0	0	0	1	10108	523	19	1		1	MYH8	17	10323446	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4564	10323446	70871764	16293	24005											
MYH4	4622	broad.mit.edu	37	chr17	10346788	10346788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagcccgttccttggcctcCtccagctcgtgctggagctt	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10346788C>A	ENST00000255381.2	-	40	5834	c.5724G>T	c.(5722-5724)gaG>gaT	p.E1908D	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1908					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTTGGCCTCCTCCAGCTCGT	0.468													False	0	False	17:10346788	0	A	10346788	C	A	10346788	3	1	88	1	0	0	0	0	1	0	0	0	10104	680	24	3	99	3	MYH4	17	10346788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23342	10346788	70848422	16294	24006											
MYH4	4622	broad.mit.edu	37	chr17	10348418	10348418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcatccgctccaggtgggCgctggtgtcctgttccttct	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10348418C>T	ENST00000255381.2	-	37	5451	c.5341G>A	c.(5341-5343)Gcc>Acc	p.A1781T	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1781					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1781T(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCAGGTGGGCGCTGGTGTCC	0.512													False	0	True	17:10348418	0	T	10348418	C	T	10348418	3	4	88	1	0	0	0	0	1	0	0	0	10104	768	27	1	494	1	MYH4	17	10348418	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1630	10348418	70846792	16295	24007											
MYH4	4622	broad.mit.edu	37	chr17	10360803	10360803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgcagacttctggtacaGccccaccacagtctcattca	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10360803G>A	ENST00000255381.2	-	16	1941	c.1831C>T	c.(1831-1833)Ctg>Ttg	p.L611L	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	611	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCTGGTACAGCCCCACCACA	0.512													False	0	True	17:10360803	0	A	10360803	G	A	10360803	2	1	88	1	0	0	0	0	0	0	0	1	10104	962	34	2		2	MYH4	17	10360803	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12385	10360803	70834407	16296	24008											
MYH1	4619	broad.mit.edu	37	chr17	10397923	10397923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttttctctcatgtttgCgtagacccttgacagcttca	6	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10397923C>T	ENST00000226207.5	-	38	5628	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1845				R -> H (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCATGTTTGCGTAGACCCTT	0.393													False	0	False	17:10397923	0	T	10397923	C	T	10397923	3	4	88	1	0	0	0	0	1	0	0	0	10096	768	27	1	297	1	MYH1	17	10397923	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37120	10397923	70797287	16297	24009											
MYH1	4619	broad.mit.edu	37	chr17	10399596	10399596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcctatagttcctcagggCctcagcagccatgcggttgg	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10399596C>T	ENST00000226207.5	-	34	5021	c.4927G>A	c.(4927-4929)Gcc>Acc	p.A1643T	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1643				A -> D (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCCTCAGGGCCTCAGCAGCC	0.502													False	0	True	17:10399596	0	T	10399596	C	T	10399596	3	4	88	1	0	0	0	0	1	0	0	0	10096	739	26	2	920	2	MYH1	17	10399596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1673	10399596	70795614	16298	24010											
MYH1	4619	broad.mit.edu	37	chr17	10409416	10409416	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcagcttattcaaattctCctgtggaaccatgcgagttt	7	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10409416C>T	ENST00000226207.5	-	18	2063	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	657	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCAAATTCTCCTGTGGAACC	0.363													False	0	False	17:10409416	0	T	10409416	C	T	10409416	5	4	88	1	0	0	0	0	0	0	1	0	10096	869	30	2	3942	2	MYH1	17	10409416	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9820	10409416	70785794	16299	24011											
MYH1	4619	broad.mit.edu	37	chr17	10415238	10415238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagctgctggttgatgCgggtgaccatccacaagaac	12	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10415238C>T	ENST00000226207.5	-	14	1428	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	445	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R445L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGTTGATGCGGGTGACCAT	0.463													False	0	True	17:10415238	0	T	10415238	C	T	10415238	3	4	88	1	0	0	0	0	1	0	0	0	10096	768	27	1	4593	1	MYH1	17	10415238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5822	10415238	70779972	16300	24012											
MYH2	4620	broad.mit.edu	37	chr17	10438497	10438497	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtggaggacaagctcatgCtccatggcacctaaaaatgc	11	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10438497C>A	ENST00000245503.5	-	19	2457	c.2073G>T	c.(2071-2073)gaG>gaT	p.E691D	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E691D|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	691	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAAGCTCATGCTCCATGGCAC	0.453													False	0	False	17:10438497	0	A	10438497	C	A	10438497	3	1	88	1	0	0	0	0	1	0	0	0	10102	796	28	3	3840	3	MYH2	17	10438497	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23259	10438497	70756713	16301	24013											
MYH2	4620	broad.mit.edu	37	chr17	10446206	10446206	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccaataagttctggtTtcttattcgatgtaatctgg	7	7	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10446206T>G	ENST00000245503.5	-	10	1274	c.890A>C	c.(889-891)aAa>aCa	p.K297T	MYH2_ENST00000532183.2_Missense_Mutation_p.K297T|MYH2_ENST00000397183.2_Missense_Mutation_p.K297T|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	297	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAGTTCTGGTTTCTTATTCGA	0.343													False	0	True	17:10446206	0	G	10446206	T	G	10446206	3	3	88	1	0	0	0	0	1	0	0	0	10102	1841	64	4	5059	4	MYH2	17	10446206	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7709	10446206	70749004	16302	24014											
MYH3	4621	broad.mit.edu	37	chr17	10532983	10532983	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattctgcgatatccgcacgTtcctcggcctcctccagctc	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10532983T>C	ENST00000583535.1	-	40	5814	c.5727A>G	c.(5725-5727)gaA>gaG	p.E1909E	MYH3_ENST00000226209.7_Silent_p.E1909E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1909					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TATCCGCACGTTCCTCGGCCT	0.552													False	0	False	17:10532983	0	C	10532983	T	C	10532983	2	2	88	1	0	0	0	0	0	0	0	1	10103	1722	60	4		4	MYH3	17	10532983	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86777	10532983	70662227	16303	24015											
MYH3	4621	broad.mit.edu	37	chr17	10545853	10545853	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccagccaacctgagacaCtgtagtccacggtgcccgca	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10545853C>A	ENST00000583535.1	-	16	1856	c.1769G>T	c.(1768-1770)aGt>aTt	p.S590I	MYH3_ENST00000226209.7_Missense_Mutation_p.S590I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	590	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACCTGAGACACTGTAGTCCAC	0.552													False	0	False	17:10545853	0	A	10545853	C	A	10545853	3	1	88	1	0	0	0	0	1	0	0	0	10103	565	20	3	4157	3	MYH3	17	10545853	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12870	10545853	70649357	16304	24016											
MYH3	4621	broad.mit.edu	37	chr17	10547728	10547728	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagtgttgtcttggaagcttCgtatccagttgctggttaat	11	6	1	0	rs141874357		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10547728C>T	ENST00000583535.1	-	14	1437	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	MYH3_ENST00000226209.7_Silent_p.T450T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	450	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGGAAGCTTCGTATCCAGTT	0.383													False	0	False	17:10547728	0	T	10547728	C	T	10547728	2	4	88	1	0	0	0	0	0	0	0	1	10103	871	31	1		1	MYH3	17	10547728	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1875	10547728	70647482	16305	24017											
SCO1	6341	broad.mit.edu	37	chr17	10595270	10595270	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagttagatctggcagagTtgtaatgctatctgaaagag	13	4	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10595270T>C	ENST00000255390.5	-	4	634	c.574A>G	c.(574-576)Act>Gct	p.T192A	SCO1_ENST00000577427.1_Missense_Mutation_p.T161A	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	192					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TCTGGCAGAGTTGTAATGCTA	0.393													False	0	False	17:10595270	0	C	10595270	T	C	10595270	3	2	88	1	0	0	0	0	1	0	0	0	14012	1725	60	4	343	4	SCO1	17	10595270	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	47542	10595270	70599940	16306	24018											
DNAH9	1770	broad.mit.edu	37	chr17	11532779	11532779	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccacaaactgggaaaggtgGagttcagcggcgtcagaggg	16	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11532779G>T	ENST00000262442.4	+	7	1464	c.1396G>T	c.(1396-1398)Gag>Tag	p.E466*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E466*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGAAAGGTGGAGTTCAGCGG	0.478													False	0	False	17:11532779	0	T	11532779	G	T	11532779	4	4	88	1	0	0	0	0	0	1	0	0	4638	1175	41	3	1422	3	DNAH9	17	11532779	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	937509	11532779	69662431	16307	24019											
DNAH9	1770	broad.mit.edu	37	chr17	11532855	11532855	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaatttcaagagatgtacaGgcttctctcaggatcctcct	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11532855G>T	ENST00000262442.4	+	7	1540	c.1472G>T	c.(1471-1473)aGg>aTg	p.R491M	DNAH9_ENST00000454412.2_Missense_Mutation_p.R491M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGATGTACAGGCTTCTCTCA	0.547													False	0	False	17:11532855	0	T	11532855	G	T	11532855	3	4	88	1	0	0	0	0	1	0	0	0	4638	1000	35	3	1498	3	DNAH9	17	11532855	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	11532855	69662355	16308	24020											
DNAH9	1770	broad.mit.edu	37	chr17	11535968	11535968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaccgaagattggggaCtatctttattcaagcttttg	9	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11535968C>T	ENST00000262442.4	+	8	1651	c.1583C>T	c.(1582-1584)aCt>aTt	p.T528I	DNAH9_ENST00000454412.2_Missense_Mutation_p.T528I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATTGGGGACTATCTTTATT	0.433													False	0	False	17:11535968	0	T	11535968	C	T	11535968	3	4	88	1	0	0	0	0	1	0	0	0	4638	565	20	2	1613	2	DNAH9	17	11535968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3113	11535968	69659242	16309	24021											
DNAH9	1770	broad.mit.edu	37	chr17	11556085	11556085	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttggggaacaggcatttgCgattatgtcactgaaatcac	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11556085C>T	ENST00000262442.4	+	14	2429	c.2361C>T	c.(2359-2361)tgC>tgT	p.C787C	DNAH9_ENST00000454412.2_Silent_p.C787C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.C787C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGCATTTGCGATTATGTCA	0.358													False	0	False	17:11556085	0	T	11556085	C	T	11556085	2	4	88	1	0	0	0	0	0	0	0	1	4638	776	27	1		1	DNAH9	17	11556085	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20117	11556085	69639125	16310	24022											
DNAH9	1770	broad.mit.edu	37	chr17	11645572	11645572	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggattcattgaagcccagtCattagccagaaagttcatca	8	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11645572C>T	ENST00000262442.4	+	30	6121	c.6053C>T	c.(6052-6054)tCa>tTa	p.S2018L	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2018L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGCCCAGTCATTAGCCAGA	0.458													False	0	False	17:11645572	0	T	11645572	C	T	11645572	3	4	88	1	0	0	0	0	1	0	0	0	4638	838	29	2	6171	2	DNAH9	17	11645572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89487	11645572	69549638	16311	24023											
DNAH9	1770	broad.mit.edu	37	chr17	11650903	11650903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggagctcctggctgtgCggcactctgtatttgtggtg	16	8	1	0	rs138652506		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11650903C>T	ENST00000262442.4	+	32	6498	c.6430C>T	c.(6430-6432)Cgg>Tgg	p.R2144W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2144W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTGGCTGTGCGGCACTCTGT	0.592													False	0	False	17:11650903	0	T	11650903	C	T	11650903	3	4	88	1	0	0	0	0	1	0	0	0	4638	759	27	1	6556	1	DNAH9	17	11650903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5331	11650903	69544307	16312	24024											
DNAH9	1770	broad.mit.edu	37	chr17	11684429	11684429	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacatgaacatgcctgaggtGgatgcctacgggacggtgca	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11684429G>T	ENST00000262442.4	+	39	7724	c.7656G>T	c.(7654-7656)gtG>gtT	p.V2552V	DNAH9_ENST00000454412.2_Silent_p.V2552V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCTGAGGTGGATGCCTACG	0.552													False	0	False	17:11684429	0	T	11684429	G	T	11684429	2	4	88	1	0	0	0	0	0	0	0	1	4638	1335	47	3		3	DNAH9	17	11684429	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33526	11684429	69510781	16313	24025											
DNAH9	1770	broad.mit.edu	37	chr17	11687764	11687764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgatcgatctggccctcGccttccaccagaaaattgct	7	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11687764G>A	ENST00000262442.4	+	41	8037	c.7969G>A	c.(7969-7971)Gcc>Acc	p.A2657T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2657T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGGCCCTCGCCTTCCACCA	0.502													False	0	False	17:11687764	0	A	11687764	G	A	11687764	3	1	88	1	0	0	0	0	1	0	0	0	4638	1087	38	1	8131	1	DNAH9	17	11687764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3335	11687764	69507446	16314	24026											
DNAH9	1770	broad.mit.edu	37	chr17	11696901	11696901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgaatcaaatcgagttTatcgggataagatggtagaa	11	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11696901T>C	ENST00000262442.4	+	42	8211	c.8143T>C	c.(8143-8145)Tat>Cat	p.Y2715H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y2715H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAATCGAGTTTATCGGGATAA	0.398													False	0	True	17:11696901	0	C	11696901	T	C	11696901	3	2	88	1	0	0	0	0	1	0	0	0	4638	1754	61	4	8309	4	DNAH9	17	11696901	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9137	11696901	69498309	16315	24027											
DNAH9	1770	broad.mit.edu	37	chr17	11711199	11711199	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcgcaaaggctaccagatCcaggacttcaaggtaaaagg	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11711199C>A	ENST00000262442.4	+	44	8639	c.8571C>A	c.(8569-8571)atC>atA	p.I2857I	DNAH9_ENST00000454412.2_Silent_p.I2857I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTACCAGATCCAGGACTTCA	0.557													False	0	False	17:11711199	0	A	11711199	C	A	11711199	2	1	88	1	0	0	0	0	0	0	0	1	4638	845	30	3		3	DNAH9	17	11711199	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14298	11711199	69484011	16316	24028											
DNAH9	1770	broad.mit.edu	37	chr17	11757669	11757669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgatgtggaacccaagcGccaggcactgaacaaagcca	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11757669G>A	ENST00000262442.4	+	50	9925	c.9857G>A	c.(9856-9858)cGc>cAc	p.R3286H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R3286H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACCCAAGCGCCAGGCACTG	0.562													False	0	False	17:11757669	0	A	11757669	G	A	11757669	3	1	88	1	0	0	0	0	1	0	0	0	4638	1087	38	1	10055	1	DNAH9	17	11757669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46470	11757669	69437541	16317	24029											
DNAH9	1770	broad.mit.edu	37	chr17	11845625	11845625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgtggggcaggtcaaGgcacttctggaagaaatatt	12	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11845625G>A	ENST00000262442.4	+	67	12734	c.12666G>A	c.(12664-12666)aaG>aaA	p.K4222K	DNAH9_ENST00000454412.2_Silent_p.K4146K|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Silent_p.K534K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCAGGTCAAGGCACTTCTGG	0.498													False	0	False	17:11845625	0	A	11845625	G	A	11845625	2	1	88	1	0	0	0	0	0	0	0	1	4638	991	35	2		2	DNAH9	17	11845625	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87956	11845625	69349585	16318	24030											
DNAH9	1770	broad.mit.edu	37	chr17	11865483	11865483	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccctgcaatgtgacatgacGaagaagaacagagaagagtt	12	7	0	6	rs138480985		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11865483G>A	ENST00000262442.4	+	68	13211	c.13143G>A	c.(13141-13143)acG>acA	p.T4381T	DNAH9_ENST00000454412.2_Silent_p.T4305T|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Silent_p.T693T|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGACATGACGAAGAAGAACA	0.552													False	0	True	17:11865483	0	A	11865483	G	A	11865483	2	1	88	1	0	0	0	0	0	0	0	1	4638	1045	37	1		1	DNAH9	17	11865483	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19858	11865483	69329727	16319	24031											
ZNF18	7566	broad.mit.edu	37	chr17	11881335	11881336	+	Frame_Shift_Ins	INS	-	-	AAGAGGAATTG													gtcaaggctcgagctccagcINStgaaacttttcccacagtgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11881335_11881336insAAGAGGAATTG	ENST00000322748.3	-	9	2192_2193	c.1588_1589insCAATTCCTCTT	c.(1588-1590)agcfs	p.S530fs	ZNF18_ENST00000580613.1_3'UTR|ZNF18_ENST00000454073.3_Frame_Shift_Ins_p.S529fs|ZNF18_ENST00000580306.1_Frame_Shift_Ins_p.S530fs	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	530					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CGAGCTCCAGCTGAAACTTTTC	0.421													False	0	False	17:11881335	0	AAGAGGAATTG	11881336	-	AAGAGGAATTG	11881335	7	5	88	1	0	1	1	0	0	0	0	0	17830	797	28	0	64	0	ZNF18	17	11881335	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	15852	11881335	69313875	16320	24032											
ZNF18	7566	broad.mit.edu	37	chr17	11896000	11896000	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggcccagacatcacctgGtaacggaactgcctgaaaag	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11896000G>T	ENST00000322748.3	-	4	751	c.147C>A	c.(145-147)taC>taA	p.Y49*	ZNF18_ENST00000580306.2_Nonsense_Mutation_p.Y49*|ZNF18_ENST00000454073.3_Nonsense_Mutation_p.Y49*	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	49	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ACATCACCTGGTAACGGAACT	0.547													False	0	False	17:11896000	0	T	11896000	G	T	11896000	4	4	88	1	0	0	0	0	0	1	0	0	17830	1256	44	3	1526	3	ZNF18	17	11896000	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14665	11896000	69299210	16321	24033											
MAP2K4	6416	broad.mit.edu	37	chr17	11984701	11984701	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacacacagcattgagTcatcaggaaaactgaagatc	9	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11984701T>G	ENST00000415385.3	+	4	333	c.280T>G	c.(280-282)Tca>Gca	p.S94A	MAP2K4_ENST00000353533.5_Missense_Mutation_p.S83A|MAP2K4_ENST00000581941.1_3'UTR	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	83					cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CAGCATTGAGTCATCAGGAAA	0.378			"D, Mis, N"		"pancreatic, breast, colorectal"								False	0	False	17:11984701	0	G	11984701	T	G	11984701	3	3	88	1	0	0	0	0	1	0	0	0	9306	1667	58	4	257	4	MAP2K4	17	11984701	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88701	11984701	69210509	16322	24034											
MAP2K4	6416	broad.mit.edu	37	chr17	12032574	12032574	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttctgaggaaagggaattctCcccgagtttcatcaactttg	9	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12032574C>A	ENST00000415385.3	+	10	1096	c.1043C>A	c.(1042-1044)tCc>tAc	p.S348Y	MAP2K4_ENST00000353533.5_Missense_Mutation_p.S337Y	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	337	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AGGGAATTCTCCCCGAGTTTC	0.428			"D, Mis, N"		"pancreatic, breast, colorectal"								False	0	True	17:12032574	0	A	12032574	C	A	12032574	3	1	88	1	0	0	0	0	1	0	0	0	9306	855	30	3	1044	3	MAP2K4	17	12032574	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47873	12032574	69162636	16323	24035											
ELAC2	60528	broad.mit.edu	37	chr17	12903496	12903496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggctgggccgtcctgcGcactcctcctgtactcctgc	12	17	0	0	rs140657898		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12903496G>A	ENST00000338034.4	-	15	1639	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A448V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A427V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	467					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GCCGTCCTGCGCACTCCTCCT	0.567													False	0	False	17:12903496	0	A	12903496	G	A	12903496	3	1	88	1	0	0	0	0	1	0	0	0	5079	1087	38	1	1120	1	ELAC2	17	12903496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	870922	12903496	68291714	16324	24036											
ELAC2	60528	broad.mit.edu	37	chr17	12903547	12903547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagttgggaagctgcagcGcctcaactatgaattcctca	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12903547G>A	ENST00000338034.4	-	15	1588	c.1349C>T	c.(1348-1350)gCg>gTg	p.A450V	ELAC2_ENST00000395962.2_Missense_Mutation_p.A431V|ELAC2_ENST00000426905.3_Missense_Mutation_p.A410V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	450					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	p.A450V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AAGCTGCAGCGCCTCAACTAT	0.577													False	0	False	17:12903547	0	A	12903547	G	A	12903547	3	1	88	1	0	0	0	0	1	0	0	0	5079	1087	38	1	1171	1	ELAC2	17	12903547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51	12903547	68291663	16325	24037											
ELAC2	60528	broad.mit.edu	37	chr17	12909125	12909125	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacagcagcaatgatgggaGcgatggcagctgtcccactg	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12909125G>T	ENST00000338034.4	-	10	1054	c.815C>A	c.(814-816)gCt>gAt	p.A272D	ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000395962.2_Missense_Mutation_p.A253D|ELAC2_ENST00000426905.3_Missense_Mutation_p.A232D	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	272					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AATGATGGGAGCGATGGCAGC	0.502													False	0	False	17:12909125	0	T	12909125	G	T	12909125	3	4	88	1	0	0	0	0	1	0	0	0	5079	971	34	3	1725	3	ELAC2	17	12909125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5578	12909125	68286085	16326	24038											
TEKT3	64518	broad.mit.edu	37	chr17	15212016	15212016	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcggcacaactcaatgttCggccgtcttgtgcgctcatc	9	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15212016C>T	ENST00000395930.1	-	8	1407	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	TEKT3_ENST00000338696.2_Silent_p.P407P	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	407					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		ACTCAATGTTCGGCCGTCTTG	0.577													False	0	False	17:15212016	0	T	15212016	C	T	15212016	2	4	88	1	0	0	0	0	0	0	0	1	15836	871	31	1		1	TEKT3	17	15212016	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2302891	15212016	65983194	16327	24039											
TEKT3	64518	broad.mit.edu	37	chr17	15234932	15234932	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactatttgtaaatctctcCtgttaaaaaataaaaagtaa	3	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15234932C>T	ENST00000395930.1	-	3	158		c.e3-1		TEKT3_ENST00000338696.2_5'UTR	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3						microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TAAATCTCTCCTGTTAAAAAA	0.373													False	0	True	17:15234932	0	T	15234932	C	T	15234932	5	4	88	1	0	0	0	0	0	0	1	0	15836	695	24	2		2	TEKT3	17	15234932	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22916	15234932	65960278	16328	24040											
CDRT4	284040	broad.mit.edu	37	chr17	15341153	15341153	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagatgatcttgttataGttttcagttggacagtctct	9	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15341153G>T	ENST00000312177.6	-	4	673	c.393C>A	c.(391-393)aaC>aaA	p.N131K	CDRT4_ENST00000519354.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	131										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		TCTTGTTATAGTTTTCAGTTG	0.478													False	0	True	17:15341153	0	T	15341153	G	T	15341153	3	4	88	1	0	0	0	0	1	0	0	0	3199	1020	36	3	66	3	CDRT4	17	15341153	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106221	15341153	65854057	16329	24041											
CDRT4	284040	broad.mit.edu	37	chr17	15341418	15341418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctagttttgcttttctcaAtgagtcttttcactgtctga	6	9	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15341418A>G	ENST00000312177.6	-	4	408	c.128T>C	c.(127-129)aTt>aCt	p.I43T	CDRT4_ENST00000519354.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR|TVP23C_ENST00000519970.1_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	43										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		GCTTTTCTCAATGAGTCTTTT	0.493													False	0	False	17:15341418	0	G	15341418	A	G	15341418	3	3	88	1	0	0	0	0	1	0	0	0	3199	101	4	4	331	4	CDRT4	17	15341418	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	265	15341418	65853792	16330	24042											
CDRT1	374286	broad.mit.edu	37	chr17	15522551	15522551	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctctttcttgctgaggtcGatccgggacctgttatagat	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15522551G>A	ENST00000395906.3	-	1	275	c.276C>T	c.(274-276)atC>atT	p.I92I	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	92										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TGCTGAGGTCGATCCGGGACC	0.388													False	0	False	17:15522551	0	A	15522551	G	A	15522551	2	1	88	1	0	0	0	0	0	0	0	1	3197	1048	37	1		1	CDRT1	17	15522551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	181133	15522551	65672659	16331	24043											
ZNF286A	57335	broad.mit.edu	37	chr17	15620048	15620048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtgggaaaggttttaatcGaagtacacatcttgtgcagc	11	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15620048G>A	ENST00000464847.2	+	5	1563	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	ZNF286A_ENST00000583566.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R337Q|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R327Q|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R337Q			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R337Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GGTTTTAATCGAAGTACACAT	0.378													False	0	False	17:15620048	0	A	15620048	G	A	15620048	3	1	88	1	0	0	0	0	1	0	0	0	17906	1058	37	1	1028	1	ZNF286A	17	15620048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97497	15620048	65575162	16332	24044											
NCOR1	9611	broad.mit.edu	37	chr17	15938174	15938174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgaagagggccgttccGttcctaagtagccttgccca	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15938174G>A	ENST00000268712.3	-	45	7297	c.7040C>T	c.(7039-7041)aCg>aTg	p.T2347M	NCOR1_ENST00000395851.1_Missense_Mutation_p.T2244M|NCOR1_ENST00000395857.3_Missense_Mutation_p.T931M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2347	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGGCCGTTCCGTTCCTAAGTA	0.502													False	0	True	17:15938174	0	A	15938174	G	A	15938174	3	1	88	1	0	0	0	0	1	0	0	0	10303	1145	40	1	290	1	NCOR1	17	15938174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318126	15938174	65257036	16333	24045											
NCOR1	9611	broad.mit.edu	37	chr17	15989754	15989754	+	Missense_Mutation	SNP	G	G	T													ttgatgtggagcaggctgaaGgacttttaaaaggaaagaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15989754G>T	ENST00000268712.3	-	23	3276	c.3019C>A	c.(3019-3021)Ctt>Att	p.L1007I	NCOR1_ENST00000395851.1_Missense_Mutation_p.L1023I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1007	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCAGGCTGAAGGACTTTTAAA	0.428													False	0	False	17:15989754	0	T	15989754	G	T	15989754	3	4	88	1	0	0	0	0	1	0	0	0	10303	1000	35	3	4399	3	NCOR1	17	15989754	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51580	15989754	65205456	16334	24046	257	2									
NCOR1	9611	broad.mit.edu	37	chr17	15989758	15989758	+	Splice_Site	SNP	T	T	G													tgtggagcaggctgaaggacTtttaaaaggaaagaaaaatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15989758T>G	ENST00000268712.3	-	23	3274		c.e23-2		NCOR1_ENST00000395851.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTGAAGGACTTTTAAAAGGA	0.418													False	0	True	17:15989758	0	G	15989758	T	G	15989758	5	3	88	1	0	0	0	0	0	0	1	0	10303	1623	56	4	4403	4	NCOR1	17	15989758	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4	15989758	65205452	16335	24047	257	2									
NCOR1	9611	broad.mit.edu	37	chr17	16024477	16024477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgatccggcccttacGgcggccctgactgttggcag	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16024477G>A	ENST00000268712.3	-	16	1998	c.1741C>T	c.(1741-1743)Cgt>Tgt	p.R581C	NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Missense_Mutation_p.R581C|NCOR1_ENST00000395848.1_Missense_Mutation_p.R472C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	581					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CGGCCCTTACGGCGGCCCTGA	0.597													False	0	False	17:16024477	0	A	16024477	G	A	16024477	3	1	88	1	0	0	0	0	1	0	0	0	10303	1116	39	1	5705	1	NCOR1	17	16024477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34719	16024477	65170733	16336	24048											
NCOR1	9611	broad.mit.edu	37	chr17	16049816	16049816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctattctgtccacttttttcTcccatgcctccatgagctga	5	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16049816T>C	ENST00000268712.3	-	10	1213	c.956A>G	c.(955-957)gAg>gGg	p.E319G	NCOR1_ENST00000395851.1_Missense_Mutation_p.E319G|NCOR1_ENST00000395848.1_Missense_Mutation_p.E210G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	319	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CACTTTTTTCTCCCATGCCTC	0.343													False	0	True	17:16049816	0	C	16049816	T	C	16049816	3	2	88	1	0	0	0	0	1	0	0	0	10303	1551	54	4	6514	4	NCOR1	17	16049816	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25339	16049816	65145394	16337	24049											
NCOR1	9611	broad.mit.edu	37	chr17	16075231	16075231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgttccagacgtggtcgCttcgattccagtgaatcatg	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16075231C>A	ENST00000268712.3	-	4	578	c.321G>T	c.(319-321)aaG>aaT	p.K107N	NCOR1_ENST00000395851.1_Missense_Mutation_p.K107N|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	107	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACGTGGTCGCTTCGATTCCA	0.483													False	0	False	17:16075231	0	A	16075231	C	A	16075231	3	1	88	1	0	0	0	0	1	0	0	0	10303	796	28	3	7173	3	NCOR1	17	16075231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25415	16075231	65119979	16338	24050											
PIGL	9487	broad.mit.edu	37	chr17	16120588	16120588	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttggcggtcttggcatgGggcttcctctgggtttggga	18	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120588G>A	ENST00000395844.4	+	1	65	c.48G>A	c.(46-48)tgG>tgA	p.W16*	PIGL_ENST00000498772.2_Nonsense_Mutation_p.W16*|PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000225609.5_Nonsense_Mutation_p.W16*|PIGL_ENST00000581006.1_Nonsense_Mutation_p.W16*			Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L						C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		TCTTGGCATGGGGCTTCCTCT	0.612													False	0	True	17:16120588	0	A	16120588	G	A	16120588	4	1	88	1	0	0	0	0	0	1	0	0	11960	1241	43	2	50	2	PIGL	17	16120588	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45357	16120588	65074622	16339	24051											
PIGL	9487	broad.mit.edu	37	chr17	16120611	16120611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcctctgggtttgggactCctcagaacgaatgaagagtc	11	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120611C>T	ENST00000395844.4	+	1	88	c.71C>T	c.(70-72)tCc>tTc	p.S24F	PIGL_ENST00000498772.2_Missense_Mutation_p.S24F|PIGL_ENST00000463810.1_3'UTR|PIGL_ENST00000225609.5_Missense_Mutation_p.S24F|PIGL_ENST00000581006.1_Missense_Mutation_p.S24F			Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L						C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GTTTGGGACTCCTCAGAACGA	0.587													False	0	False	17:16120611	0	T	16120611	C	T	16120611	3	4	88	1	0	0	0	0	1	0	0	0	11960	855	30	2	73	2	PIGL	17	16120611	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23	16120611	65074599	16340	24052											
PIGL	9487	broad.mit.edu	37	chr17	16216893	16216893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagggggagtaagtggCcacagcaatcacattgctct	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16216893C>T	ENST00000395844.4	+	4	476	c.459C>T	c.(457-459)ggC>ggT	p.G153G	PIGL_ENST00000498772.2_Silent_p.G153G|PIGL_ENST00000225609.5_Silent_p.G153G|PIGL_ENST00000581006.1_Intron			Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L						C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GAGTAAGTGGCCACAGCAATC	0.488													False	0	False	17:16216893	0	T	16216893	C	T	16216893	2	4	88	1	0	0	0	0	0	0	0	1	11960	726	26	2		2	PIGL	17	16216893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96282	16216893	64978317	16341	24053											
TRPV2	51393	broad.mit.edu	37	chr17	16321163	16321163	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagagtcaacctcaactacCgaaagggaacaggtgccagg	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16321163C>T	ENST00000338560.7	+	2	580	c.181C>T	c.(181-183)Cga>Tga	p.R61*	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	61	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCAACTACCGAAAGGGAAC	0.597													False	0	False	17:16321163	0	T	16321163	C	T	16321163	4	4	88	1	0	0	0	0	0	1	0	0	16679	644	23	1	183	1	TRPV2	17	16321163	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104270	16321163	64874047	16342	24054											
TRPV2	51393	broad.mit.edu	37	chr17	16330045	16330045	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaccccagcaccgacacCgaatggtcgttttggagccc	9	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16330045C>T	ENST00000338560.7	+	7	1504	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	369	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCACCGACACCGAATGGTCGT	0.517													False	0	True	17:16330045	0	T	16330045	C	T	16330045	4	4	88	1	0	0	0	0	0	1	0	0	16679	644	23	1	1127	1	TRPV2	17	16330045	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8882	16330045	64865165	16343	24055											
TRPV2	51393	broad.mit.edu	37	chr17	16330160	16330160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacatgttcatcttcaccgCtgttgcctaccatcagccta	5	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16330160C>T	ENST00000338560.7	+	7	1619	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	407					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATCTTCACCGCTGTTGCCTAC	0.532													False	0	False	17:16330160	0	T	16330160	C	T	16330160	3	4	88	1	0	0	0	0	1	0	0	0	16679	797	28	2	1242	2	TRPV2	17	16330160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115	16330160	64865050	16344	24056											
TRPV2	51393	broad.mit.edu	37	chr17	16335315	16335315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccaggaggcttggcgccccGaagctcctacaggccccaat	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16335315G>A	ENST00000338560.7	+	12	2089	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.E134K	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	564					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTGGCGCCCCGAAGCTCCTAC	0.647													False	0	True	17:16335315	0	A	16335315	G	A	16335315	3	1	88	1	0	0	0	0	1	0	0	0	16679	1059	37	1	1732	1	TRPV2	17	16335315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5155	16335315	64859895	16345	24057											
TRPV2	51393	broad.mit.edu	37	chr17	16336966	16336966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggtgtgatgctgaccGttggcactaagccagatggc	16	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16336966G>A	ENST00000338560.7	+	13	2467	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	690					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GATGCTGACCGTTGGCACTAA	0.592													False	0	False	17:16336966	0	A	16336966	G	A	16336966	3	1	88	1	0	0	0	0	1	0	0	0	16679	1145	40	1	2114	1	TRPV2	17	16336966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1651	16336966	64858244	16346	24058											
TRPV2	51393	broad.mit.edu	37	chr17	16340106	16340106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgccatctgtttacaggaaCtctcgagaaccctgtcctgg	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16340106C>T	ENST00000338560.7	+	15	2597	c.2198C>T	c.(2197-2199)aCt>aTt	p.T733I	TRPV2_ENST00000577397.1_Missense_Mutation_p.T303I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	733					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTACAGGAACTCTCGAGAAC	0.552													False	0	False	17:16340106	0	T	16340106	C	T	16340106	3	4	88	1	0	0	0	0	1	0	0	0	16679	565	20	2	2252	2	TRPV2	17	16340106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3140	16340106	64855104	16347	24059											
ZNF287	57336	broad.mit.edu	37	chr17	16455434	16455434	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcattacatttatagggTttttctccagtatgaatcct	5	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16455434T>C	ENST00000395824.1	-	6	2639	c.2022A>G	c.(2020-2022)aaA>aaG	p.K674K	ZNF287_ENST00000395825.3_Silent_p.K674K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	667					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ATTTATAGGGTTTTTCTCCAG	0.348													False	0	True	17:16455434	0	C	16455434	T	C	16455434	2	2	88	1	0	0	0	0	0	0	0	1	17908	1722	60	4		4	ZNF287	17	16455434	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	115328	16455434	64739776	16348	24060											
ZNF287	57336	broad.mit.edu	37	chr17	16456289	16456289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgatttctctttggcatgGgtactttggtgtttcaggag	12	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16456289G>A	ENST00000395824.1	-	6	1784	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	ZNF287_ENST00000395825.3_Silent_p.T389T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	382					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTTTGGCATGGGTACTTTGGT	0.398													False	0	True	17:16456289	0	A	16456289	G	A	16456289	2	1	88	1	0	0	0	0	0	0	0	1	17908	1219	43	2		2	ZNF287	17	16456289	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	855	16456289	64738921	16349	24061											
ZNF624	57547	broad.mit.edu	37	chr17	16537218	16537218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctcaccgtcacccatgGtcctttcccattctccaaat	3	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16537218G>A	ENST00000311331.7	-	5	425	c.334C>T	c.(334-336)Cca>Tca	p.P112S	ZNF624_ENST00000579983.1_5'UTR	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	112	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTCACCCATGGTCCTTTCCCA	0.413													False	0	False	17:16537218	0	A	16537218	G	A	16537218	3	1	88	1	0	0	0	0	1	0	0	0	18131	1261	44	2	2271	2	ZNF624	17	16537218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80929	16537218	64657992	16350	24062											
CCDC144A	9720	broad.mit.edu	37	chr17	16593733	16593733	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgatggcctcctggggtggaGaaaagcggggaggggctgag	21	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16593733G>T	ENST00000443444.2	+	1	159	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	CCDC144A_ENST00000456009.1_Nonsense_Mutation_p.E7*|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000360524.8_Nonsense_Mutation_p.E7*|CCDC144A_ENST00000436374.1_3'UTR			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	7																	CTGGGGTGGAGAAAAGCGGGG	0.647													False	0	True	17:16593733	0	T	16593733	G	T	16593733	4	4	88	1	0	0	0	0	0	1	0	0	2797	943	33	3	21	3	CCDC144A	17	16593733	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56515	16593733	64601477	16351	24063											
CCDC144A	9720	broad.mit.edu	37	chr17	16594033	16594033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctcctggagacactggcGtggacaagagggataggaag	16	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16594033G>A	ENST00000443444.2	+	1	459	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	CCDC144A_ENST00000456009.1_Missense_Mutation_p.V107M|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.V107M|CCDC144A_ENST00000340621.5_Missense_Mutation_p.V107M|CCDC144A_ENST00000399273.1_Missense_Mutation_p.V107M|CCDC144A_ENST00000360524.8_Missense_Mutation_p.V107M|CCDC144A_ENST00000436374.1_3'UTR			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	107																	AGACACTGGCGTGGACAAGAG	0.652													False	0	False	17:16594033	0	A	16594033	G	A	16594033	3	1	88	1	0	0	0	0	1	0	0	0	2797	1145	40	1	321	1	CCDC144A	17	16594033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	300	16594033	64601177	16352	24064											
CCDC144A	9720	broad.mit.edu	37	chr17	16612399	16612399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgacaaataacatacctgGttgtgaggaagaagatgcat	10	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16612399G>A	ENST00000443444.2	+	5	1168	c.1028G>A	c.(1027-1029)gGt>gAt	p.G343D	CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G343D|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G342D|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G343D|CCDC144A_ENST00000360524.8_Missense_Mutation_p.G343D			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	343																	AACATACCTGGTTGTGAGGAA	0.383													False	0	False	17:16612399	0	A	16612399	G	A	16612399	3	1	88	1	0	0	0	0	1	0	0	0	2797	1261	44	2	1046	2	CCDC144A	17	16612399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18366	16612399	64582811	16353	24065											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16843683	16843683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacggggccttgagcggggCtggcaggagcagggatcccc	19	11	0	2	rs56248318		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16843683C>A	ENST00000437538.2	-	3	458	c.450G>T	c.(448-450)caG>caT	p.Q150H	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.Q196H|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.Q150H			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	196					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TTGAGCGGGGCTGGCAGGAGC	0.647									IgA Deficiency, Selective				False	0	True	17:16843683	0	A	16843683	C	A	16843683	3	1	88	1	0	0	0	0	1	0	0	0	16369	796	28	3	301	3	TNFRSF13B	17	16843683	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231284	16843683	64351527	16354	24066											
FLCN	201163	broad.mit.edu	37	chr17	17122372	17122372	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttgaagactggcagcttCcggggctgccagctcccaca	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17122372C>T	ENST00000285071.4	-	9	1477	c.1023G>A	c.(1021-1023)cgG>cgA	p.R341R	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	341					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGGCAGCTTCCGGGGCTGCC	0.652									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				False	0	False	17:17122372	0	T	17122372	C	T	17122372	2	4	88	1	0	0	0	0	0	0	0	1	5961	842	30	2		2	FLCN	17	17122372	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278689	17122372	64072838	16355	24067											
FLCN	201163	broad.mit.edu	37	chr17	17124912	17124912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccttccaggagcttctcGgtcagccggctgccacacgc	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17124912G>A	ENST00000285071.4	-	8	1264	c.810C>T	c.(808-810)acC>acT	p.T270T	FLCN_ENST00000389169.5_Silent_p.T270T|RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	270					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGAGCTTCTCGGTCAGCCGGC	0.622									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				False	0	False	17:17124912	0	A	17124912	G	A	17124912	2	1	88	1	0	0	0	0	0	0	0	1	5961	1103	39	1		1	FLCN	17	17124912	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2540	17124912	64070298	16356	24068											
FLCN	201163	broad.mit.edu	37	chr17	17131402	17131402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccgtgcagaagagagtgCgggggccgtggagctcgcag	18	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17131402C>T	ENST00000285071.4	-	4	504	c.50G>A	c.(49-51)cGc>cAc	p.R17H	FLCN_ENST00000389169.5_Missense_Mutation_p.R17H|RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.R17H	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	17					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAAGAGAGTGCGGGGGCCGTG	0.622									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				False	0	True	17:17131402	0	T	17131402	C	T	17131402	3	4	88	1	0	0	0	0	1	0	0	0	5961	768	27	1	1891	1	FLCN	17	17131402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6490	17131402	64063808	16357	24069											
NT5M	56953	broad.mit.edu	37	chr17	17250251	17250251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccattctggacagcaagcGgccctgctgagctggactgt	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17250251G>A	ENST00000389022.4	+	5	893	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	226					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GACAGCAAGCGGCCCTGCTGA	0.682													False	0	False	17:17250251	0	A	17250251	G	A	17250251	3	1	88	1	0	0	0	0	1	0	0	0	10762	1116	39	1	695	1	NT5M	17	17250251	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118849	17250251	63944959	16358	24070											
MED9	55090	broad.mit.edu	37	chr17	17380439	17380439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgctgcctgacaccaaGccgctgccgcctcctcagcc	9	21	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17380439G>A	ENST00000268711.3	+	1	140	c.84G>A	c.(82-84)aaG>aaA	p.K28K	MED9_ENST00000580462.1_Silent_p.K28K|MED9_ENST00000585041.1_3'UTR	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	28	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ctgacaccaagccgctgccgc	0.721													False	0	False	17:17380439	0	A	17380439	G	A	17380439	2	1	88	1	0	0	0	0	0	0	0	1	9521	962	34	2		2	MED9	17	17380439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130188	17380439	63814771	16359	24071											
RASD1	51655	broad.mit.edu	37	chr17	17399311	17399311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggatggagtagaacttgCggtggaagtcctcgatggta	16	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17399311C>T	ENST00000225688.3	-	1	396	c.185G>A	c.(184-186)cGc>cAc	p.R62H	RASD1_ENST00000579152.1_Missense_Mutation_p.R62H	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	62					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						GTAGAACTTGCGGTGGAAGTC	0.647													False	0	False	17:17399311	0	T	17399311	C	T	17399311	3	4	88	1	0	0	0	0	1	0	0	0	13145	768	27	1	668	1	RASD1	17	17399311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18872	17399311	63795899	16360	24072											
RAI1	10743	broad.mit.edu	37	chr17	17696546	17696546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggcctgcaggggaggcCggctttccctggctacggcg	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17696546C>T	ENST00000353383.1	+	3	753	c.284C>T	c.(283-285)cCg>cTg	p.P95L	RAI1_ENST00000261641.6_Missense_Mutation_p.P95L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	95						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGGGGAGGCCGGCTTTCCCT	0.711													False	0	False	17:17696546	0	T	17696546	C	T	17696546	3	4	88	1	0	0	0	0	1	0	0	0	13086	652	23	1	286	1	RAI1	17	17696546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	297235	17696546	63498664	16361	24073											
RAI1	10743	broad.mit.edu	37	chr17	17699003	17699003	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggactccaaggccggctGgggctctccgtgccacctct	13	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17699003G>A	ENST00000353383.1	+	3	3210	c.2741G>A	c.(2740-2742)tGg>tAg	p.W914*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.W914*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	914						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGGCCGGCTGGGGCTCTCCG	0.647													False	0	True	17:17699003	0	A	17699003	G	A	17699003	4	1	88	1	0	0	0	0	0	1	0	0	13086	1357	47	2	2743	2	RAI1	17	17699003	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2457	17699003	63496207	16362	24074											
RAI1	10743	broad.mit.edu	37	chr17	17700276	17700276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgtgcagaagatcacctcGcccagcctcaagaagttcgc	9	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17700276G>A	ENST00000353383.1	+	3	4483	c.4014G>A	c.(4012-4014)tcG>tcA	p.S1338S	RAI1_ENST00000261641.6_Silent_p.S1338S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1338						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGATCACCTCGCCCAGCCTCA	0.627													False	0	True	17:17700276	0	A	17700276	G	A	17700276	2	1	88	1	0	0	0	0	0	0	0	1	13086	1074	38	1		1	RAI1	17	17700276	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1273	17700276	63494934	16363	24075											
RAI1	10743	broad.mit.edu	37	chr17	17700424	17700424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctggtaaatgtgggcaccGggcagaagctcccaacttct	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17700424G>A	ENST00000353383.1	+	3	4631	c.4162G>A	c.(4162-4164)Ggg>Agg	p.G1388R	RAI1_ENST00000261641.6_Missense_Mutation_p.G1388R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1388						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGTGGGCACCGGGCAGAAGCT	0.532													False	0	True	17:17700424	0	A	17700424	G	A	17700424	3	1	88	1	0	0	0	0	1	0	0	0	13086	1116	39	1	4164	1	RAI1	17	17700424	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148	17700424	63494786	16364	24076											
RAI1	10743	broad.mit.edu	37	chr17	17701060	17701060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccttctcacccttcgtgCgggtggagaagcgagacgcg	14	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17701060C>T	ENST00000353383.1	+	3	5267	c.4798C>T	c.(4798-4800)Cgg>Tgg	p.R1600W	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1600						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCCTTCGTGCGGGTGGAGAA	0.617													False	0	True	17:17701060	0	T	17701060	C	T	17701060	3	4	88	1	0	0	0	0	1	0	0	0	13086	759	27	1	4800	1	RAI1	17	17701060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	636	17701060	63494150	16365	24077											
SREBF1	6720	broad.mit.edu	37	chr17	17720902	17720902	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggctccaggcctcagttattCtgtctatgaaatgggaggta	12	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17720902C>A	ENST00000435530.2	-	8	1407	c.1408G>T	c.(1408-1410)Gaa>Taa	p.E470*	SREBF1_ENST00000395757.1_Intron|SREBF1_ENST00000338854.5_Intron|SREBF1_ENST00000261646.5_Intron|SREBF1_ENST00000355815.4_Intron			P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	470	Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						ctcagttattctgtctatgaa	0.612													False	0	False	17:17720902	0	A	17720902	C	A	17720902	4	1	88	1	0	0	0	0	0	1	0	0	15223	928	32	3		3	SREBF1	17	17720902	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19842	17720902	63474308	16366	24078											
SREBF1	6720	broad.mit.edu	37	chr17	17722393	17722393	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattgatggaggagcggtaGcgcttctcaatggcgttgtg	15	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17722393G>A	ENST00000355815.4	-	6	1261	c.1092C>T	c.(1090-1092)cgC>cgT	p.R364R	SREBF1_ENST00000395757.1_Silent_p.R80R|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000338854.5_Silent_p.R334R|SREBF1_ENST00000261646.5_Silent_p.R334R|SREBF1_ENST00000435530.2_Silent_p.R334R	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	334	Helix-loop-helix motif.|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AGGAGCGGTAGCGCTTCTCAA	0.612													False	0	False	17:17722393	0	A	17722393	G	A	17722393	2	1	88	1	0	0	0	0	0	0	0	1	15223	958	34	2		2	SREBF1	17	17722393	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1491	17722393	63472817	16367	24079											
SREBF1	6720	broad.mit.edu	37	chr17	17723477	17723477	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aactgcggtggggctggggcTgggaagctctgtggcaggag	21	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17723477T>G	ENST00000355815.4	-	3	709	c.540A>C	c.(538-540)ccA>ccC	p.P180P	SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000338854.5_Silent_p.P150P|SREBF1_ENST00000261646.5_Silent_p.P150P|SREBF1_ENST00000435530.2_Silent_p.P150P	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	150					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGGCTGGGGCTGGGAAGCTCT	0.667													False	0	True	17:17723477	0	G	17723477	T	G	17723477	2	3	88	1	0	0	0	0	0	0	0	1	15223	1567	55	4		4	SREBF1	17	17723477	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1084	17723477	63471733	16368	24080											
TOM1L2	146691	broad.mit.edu	37	chr17	17764838	17764838	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgcagaagcaagtcctccGacagcctgaggatcctcata	10	12	1	2	rs117929409	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17764838G>A	ENST00000581396.1	-	11	1176	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V	TOM1L2_ENST00000379504.3_Silent_p.V410V|TOM1L2_ENST00000395739.4_Silent_p.V365V|TOM1L2_ENST00000318094.10_Silent_p.V365V|TOM1L2_ENST00000540946.1_Silent_p.V312V|TOM1L2_ENST00000535933.1_Silent_p.V357V|TOM1L2_ENST00000542206.1_Silent_p.V262V|TOM1L2_ENST00000478943.1_Silent_p.V143V	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	410					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CAAGTCCTCCGACAGCCTGAG	0.507													False	0	False	17:17764838	0	A	17764838	G	A	17764838	2	1	88	1	0	0	0	0	0	0	0	1	16435	1045	37	1		1	TOM1L2	17	17764838	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41361	17764838	63430372	16369	24081											
TOM1L2	146691	broad.mit.edu	37	chr17	17766150	17766150	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtgccactgacgctcTctgtccccaagtctgtggca	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17766150T>A	ENST00000581396.1	-	10	1043	c.947A>T	c.(946-948)gAg>gTg	p.E316V	TOM1L2_ENST00000379504.3_Missense_Mutation_p.E366V|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E321V|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E321V|TOM1L2_ENST00000540946.1_Missense_Mutation_p.E268V|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E313V|TOM1L2_ENST00000542206.1_Missense_Mutation_p.E218V|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E99V	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	366					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ACTGACGCTCTCTGTCCCCAA	0.537													False	0	True	17:17766150	0	A	17766150	T	A	17766150	3	1	88	1	0	0	0	0	1	0	0	0	16435	1551	54	5	446	5	TOM1L2	17	17766150	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1312	17766150	63429060	16370	24082											
LRRC48	83450	broad.mit.edu	37	chr17	17907797	17907797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctggagatgcagctggtgGagcagctggaggtaaggctg	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17907797G>A	ENST00000313838.8	+	11	1499	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	LRRC48_ENST00000399187.1_Missense_Mutation_p.E374K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E374K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E374K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E374K	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	374						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GCAGCTGGTGGAGCAGCTGGA	0.552													False	0	False	17:17907797	0	A	17907797	G	A	17907797	3	1	88	1	0	0	0	0	1	0	0	0	9067	1175	41	2	1150	2	LRRC48	17	17907797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	141647	17907797	63287413	16371	24083											
DRG2	1819	broad.mit.edu	37	chr17	18002358	18002358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgccaacatccagctcctgGaccttcctggaatcattgaa	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18002358G>A	ENST00000225729.3	+	4	481	c.343G>A	c.(343-345)Gac>Aac	p.D115N	DRG2_ENST00000583355.1_Intron|DRG2_ENST00000395726.4_Missense_Mutation_p.D115N	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	115	G.				signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					CCAGCTCCTGGACCTTCCTGG	0.547													False	0	False	17:18002358	0	A	18002358	G	A	18002358	3	1	88	1	0	0	0	0	1	0	0	0	4792	1174	41	2	357	2	DRG2	17	18002358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94561	18002358	63192852	16372	24084											
DRG2	1819	broad.mit.edu	37	chr17	18007126	18007126	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcagctgcggcatgaAgctgaacctggactatctgc	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18007126A>C	ENST00000225729.3	+	10	956	c.818A>C	c.(817-819)aAg>aCg	p.K273T	DRG2_ENST00000583355.1_Missense_Mutation_p.E79D|DRG2_ENST00000395726.4_Missense_Mutation_p.K273T	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	273					signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TGCGGCATGAAGCTGAACCTG	0.572													False	0	False	17:18007126	0	C	18007126	A	C	18007126	3	2	88	1	0	0	0	0	1	0	0	0	4792	72	3	4	856	4	DRG2	17	18007126	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4768	18007126	63188084	16373	24085											
MYO15A	51168	broad.mit.edu	37	chr17	18022454	18022454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgatccgcttcccaggcCgccgtggctacggccgcctg	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18022454C>A	ENST00000205890.5	+	2	678	c.340C>A	c.(340-342)Cgc>Agc	p.R114S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	114	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTCCCAGGCCGCCGTGGCTA	0.617													False	0	False	17:18022454	0	A	18022454	C	A	18022454	3	1	88	1	0	0	0	0	1	0	0	0	10130	652	23	3	342	3	MYO15A	17	18022454	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15328	18022454	63172756	16374	24086											
MYO15A	51168	broad.mit.edu	37	chr17	18024987	18024987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcttttccaggccaccccCtgtgccggaaaacccctttc	8	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18024987C>T	ENST00000205890.5	+	2	3211	c.2873C>T	c.(2872-2874)cCt>cTt	p.P958L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	958	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCACCCCCTGTGCCGGAA	0.682													False	0	True	17:18024987	0	T	18024987	C	T	18024987	3	4	88	1	0	0	0	0	1	0	0	0	10130	681	24	2	2875	2	MYO15A	17	18024987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2533	18024987	63170223	16375	24087											
MYO15A	51168	broad.mit.edu	37	chr17	18025224	18025224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccccagcacctcccaaggAtgtcactccccccaaggata	6	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025224A>G	ENST00000205890.5	+	2	3448	c.3110A>G	c.(3109-3111)gAt>gGt	p.D1037G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1037	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTCCCAAGGATGTCACTCCC	0.612													False	0	False	17:18025224	0	G	18025224	A	G	18025224	3	3	88	1	0	0	0	0	1	0	0	0	10130	333	12	4	3112	4	MYO15A	17	18025224	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	237	18025224	63169986	16376	24088											
MYO15A	51168	broad.mit.edu	37	chr17	18025324	18025324	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccactggctgcgtgtgaccaGaccagggccacatggccacc	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025324G>T	ENST00000205890.5	+	2	3548	c.3210G>T	c.(3208-3210)caG>caT	p.Q1070H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1070	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTGTGACCAGACCAGGGCCA	0.647													False	0	True	17:18025324	0	T	18025324	G	T	18025324	3	4	88	1	0	0	0	0	1	0	0	0	10130	933	33	3	3212	3	MYO15A	17	18025324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100	18025324	63169886	16377	24089											
MYO15A	51168	broad.mit.edu	37	chr17	18025661	18025661	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgccacctgggccctggaGctgcctgcctgtcccttagg	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025661G>T	ENST00000205890.5	+	2	3885	c.3547G>T	c.(3547-3549)Gct>Tct	p.A1183S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1183	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGCCCTGGAGCTGCCTGCCT	0.637													False	0	True	17:18025661	0	T	18025661	G	T	18025661	3	4	88	1	0	0	0	0	1	0	0	0	10130	971	34	3	3549	3	MYO15A	17	18025661	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	337	18025661	63169549	16378	24090											
MYO15A	51168	broad.mit.edu	37	chr17	18029702	18029702	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcggtgaacccataccaAatgtttggaatctatgggcc	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18029702A>C	ENST00000205890.5	+	5	4136	c.3798A>C	c.(3796-3798)caA>caC	p.Q1266H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1266	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCCATACCAAATGTTTGGAA	0.617													False	0	True	17:18029702	0	C	18029702	A	C	18029702	3	2	88	1	0	0	0	0	1	0	0	0	10130	11	1	4	3812	4	MYO15A	17	18029702	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4041	18029702	63165508	16379	24091											
MYO15A	51168	broad.mit.edu	37	chr17	18030104	18030104	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctaatgacctgtctccccaGgcacctctttgctgttgcaa	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18030104G>T	ENST00000205890.5	+	6	4204		c.e6-1			NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA						sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGTCTCCCCAGGCACCTCTTT	0.552													False	0	False	17:18030104	0	T	18030104	G	T	18030104	5	4	88	1	0	0	0	0	0	0	1	0	10130	1014	35	3	3884	3	MYO15A	17	18030104	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	402	18030104	63165106	16380	24092											
MYO15A	51168	broad.mit.edu	37	chr17	18041528	18041528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagccttatggcatcctgCggatccttgacgaccagtgt	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18041528C>T	ENST00000205890.5	+	17	5313	c.4975C>T	c.(4975-4977)Cgg>Tgg	p.R1659W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1659	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCATCCTGCGGATCCTTGA	0.557													False	0	False	17:18041528	0	T	18041528	C	T	18041528	3	4	88	1	0	0	0	0	1	0	0	0	10130	759	27	1	5033	1	MYO15A	17	18041528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11424	18041528	63153682	16381	24093											
MYO15A	51168	broad.mit.edu	37	chr17	18044339	18044339	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcatccctacaggagccaGgtctctttgagccagatgtg	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18044339G>T	ENST00000205890.5	+	22	5751	c.5413G>T	c.(5413-5415)Ggt>Tgt	p.G1805C	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1805	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACAGGAGCCAGGTCTCTTTGA	0.542											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:18044339	0	T	18044339	G	T	18044339	3	4	88	1	0	0	0	0	1	0	0	0	10130	1000	35	3	5491	3	MYO15A	17	18044339	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2811	18044339	63150871	16382	24094											
MYO15A	51168	broad.mit.edu	37	chr17	18051507	18051507	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggccagcatggcgctggAcgtgggctgcttcaatggta	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18051507A>G	ENST00000205890.5	+	31	7012	c.6674A>G	c.(6673-6675)gAc>gGc	p.D2225G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2225	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGGCGCTGGACGTGGGCTGC	0.672													False	0	False	17:18051507	0	G	18051507	A	G	18051507	3	3	88	1	0	0	0	0	1	0	0	0	10130	275	10	4	6788	4	MYO15A	17	18051507	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7168	18051507	63143703	16383	24095											
MYO15A	51168	broad.mit.edu	37	chr17	18054176	18054176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgaccctgcaggccacGgcactccagcagcagcccct	11	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18054176G>A	ENST00000205890.5	+	38	7760	c.7422G>A	c.(7420-7422)acG>acA	p.T2474T		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2474	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCAGGCCACGGCACTCCAGC	0.672													False	0	False	17:18054176	0	A	18054176	G	A	18054176	2	1	88	1	0	0	0	0	0	0	0	1	10130	1103	39	1		1	MYO15A	17	18054176	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2669	18054176	63141034	16384	24096											
MYO15A	51168	broad.mit.edu	37	chr17	18054484	18054484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtccccctgccaaacccGtgctcctgcgtgccactcca	8	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18054484G>A	ENST00000205890.5	+	39	7872	c.7534G>A	c.(7534-7536)Gtg>Atg	p.V2512M		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2512	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCCAAACCCGTGCTCCTGCG	0.647													False	0	True	17:18054484	0	A	18054484	G	A	18054484	3	1	88	1	0	0	0	0	1	0	0	0	10130	1145	40	1	7680	1	MYO15A	17	18054484	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308	18054484	63140726	16385	24097											
MYO15A	51168	broad.mit.edu	37	chr17	18062626	18062626	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcatcgaactcagcgacaGcagcctcagcaagatggcca	9	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18062626G>T	ENST00000205890.5	+	54	9532	c.9194G>T	c.(9193-9195)aGc>aTc	p.S3065I	MYO15A_ENST00000418233.3_Missense_Mutation_p.S329I	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3065	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCAGCGACAGCAGCCTCAGC	0.587													False	0	False	17:18062626	0	T	18062626	G	T	18062626	3	4	88	1	0	0	0	0	1	0	0	0	10130	971	34	3	9400	3	MYO15A	17	18062626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8142	18062626	63132584	16386	24098											
MYO15A	51168	broad.mit.edu	37	chr17	18065967	18065967	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcgtctggagctccccAgcagcatagagcttcgggcc	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18065967A>G	ENST00000205890.5	+	58	9924	c.9586A>G	c.(9586-9588)Agc>Ggc	p.S3196G	MYO15A_ENST00000451725.2_Missense_Mutation_p.S88G|MYO15A_ENST00000418233.3_Missense_Mutation_p.S460G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3196	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGAGCTCCCCAGCAGCATAGA	0.597													False	0	True	17:18065967	0	G	18065967	A	G	18065967	3	3	88	1	0	0	0	0	1	0	0	0	10130	188	7	4	9808	4	MYO15A	17	18065967	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3341	18065967	63129243	16387	24099											
MYO15A	51168	broad.mit.edu	37	chr17	18069767	18069767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctacatgctctggttcCggcgtgtgctctgggatcag	15	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18069767C>T	ENST00000205890.5	+	61	10218	c.9880C>T	c.(9880-9882)Cgg>Tgg	p.R3294W	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3294	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCTGGTTCCGGCGTGTGCT	0.577													False	0	False	17:18069767	0	T	18069767	C	T	18069767	3	4	88	1	0	0	0	0	1	0	0	0	10130	643	23	1	10114	1	MYO15A	17	18069767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3800	18069767	63125443	16388	24100											
MYO15A	51168	broad.mit.edu	37	chr17	18075471	18075471	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccccctctccctgcccagGcctcctcagcgccttaccta	5	23	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18075471G>A	ENST00000205890.5	+	64	10555	c.10217G>A	c.(10216-10218)gGc>gAc	p.G3406D	MYO15A_ENST00000451725.2_Splice_Site_p.A200T|MYO15A_ENST00000418233.3_Splice_Site_p.G670D	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3406	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCTGCCCAGGCCTCCTCAGC	0.597													False	0	False	17:18075471	0	A	18075471	G	A	18075471	5	1	88	1	0	0	0	0	0	0	1	0	10130	1217	42	2	10463	2	MYO15A	17	18075471	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5704	18075471	63119739	16389	24101											
ALKBH5	54890	broad.mit.edu	37	chr17	18110257	18110257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacccaagcggtcccaccGcaaggcagaccctgatgctg	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18110257G>A	ENST00000399138.4	+	3	985	c.980G>A	c.(979-981)cGc>cAc	p.R327H	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	327						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGGTCCCACCGCAAGGCAGAC	0.587													False	0	False	17:18110257	0	A	18110257	G	A	18110257	3	1	88	1	0	0	0	0	1	0	0	0	530	1087	38	1	990	1	ALKBH5	17	18110257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34786	18110257	63084953	16390	24102											
LLGL1	3996	broad.mit.edu	37	chr17	18133300	18133300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcccagcgccctggccttcGacccggaacttcgcatcatg	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18133300G>A	ENST00000316843.4	+	2	223	c.127G>A	c.(127-129)Gac>Aac	p.D43N		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	43					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CCTGGCCTTCGACCCGGAACT	0.622													False	0	False	17:18133300	0	A	18133300	G	A	18133300	3	1	88	1	0	0	0	0	1	0	0	0	8886	1058	37	1	133	1	LLGL1	17	18133300	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23043	18133300	63061910	16391	24103											
LLGL1	3996	broad.mit.edu	37	chr17	18135840	18135840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgtggagttcacaggcCtgcaccgggatgcagccact	14	13	1	0	rs139741665	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18135840C>T	ENST00000316843.4	+	3	307	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	71					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GTTCACAGGCCTGCACCGGGA	0.587													False	0	False	17:18135840	0	T	18135840	C	T	18135840	2	4	88	1	0	0	0	0	0	0	0	1	8886	680	24	2		2	LLGL1	17	18135840	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2540	18135840	63059370	16392	24104											
LLGL1	3996	broad.mit.edu	37	chr17	18138215	18138215	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctatggtgaccgccactgtgTaagtgtgcttcgagccgaga	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18138215T>C	ENST00000316843.4	+	9	1064	c.968T>C	c.(967-969)gTa>gCa	p.V323A		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	323					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CGCCACTGTGTAAGTGTGCTT	0.582													False	0	False	17:18138215	0	C	18138215	T	C	18138215	3	2	88	1	0	0	0	0	1	0	0	0	8886	1638	57	4	1002	4	LLGL1	17	18138215	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2375	18138215	63056995	16393	24105											
LLGL1	3996	broad.mit.edu	37	chr17	18141066	18141066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctcttcgactaccagcGcaagagccctgtgctggcca	11	15	1	1	rs144655159		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18141066G>A	ENST00000316843.4	+	14	1979	c.1883G>A	c.(1882-1884)cGc>cAc	p.R628H		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	628				FDYQRK -> L (in Ref. 1; CAA60130).	cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GACTACCAGCGCAAGAGCCCT	0.637													False	0	False	17:18141066	0	A	18141066	G	A	18141066	3	1	88	1	0	0	0	0	1	0	0	0	8886	1087	38	1	1937	1	LLGL1	17	18141066	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2851	18141066	63054144	16394	24106											
LLGL1	3996	broad.mit.edu	37	chr17	18144854	18144854	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaggtggcactggccacGtttgccagtgtggcctgcga	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18144854G>A	ENST00000316843.4	+	18	2688	c.2592G>A	c.(2590-2592)acG>acA	p.T864T		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	864					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CACTGGCCACGTTTGCCAGTG	0.642													False	0	True	17:18144854	0	A	18144854	G	A	18144854	2	1	88	1	0	0	0	0	0	0	0	1	8886	1132	40	1		1	LLGL1	17	18144854	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3788	18144854	63050356	16395	24107											
LLGL1	3996	broad.mit.edu	37	chr17	18145222	18145222	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttacctgatatccccatcaGaatttgaacgcttctcccta	4	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18145222G>T	ENST00000316843.4	+	19	2887	c.2791G>T	c.(2791-2793)Gaa>Taa	p.E931*		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	931					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					ATCCCCATCAGAATTTGAACG	0.572													False	0	False	17:18145222	0	T	18145222	G	T	18145222	4	4	88	1	0	0	0	0	0	1	0	0	8886	943	33	3	2865	3	LLGL1	17	18145222	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	368	18145222	63049988	16396	24108											
FLII	2314	broad.mit.edu	37	chr17	18149700	18149700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaccgccttcctcttgCcccggtggatgatgaacttc	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18149700C>T	ENST00000327031.4	-	24	3353	c.3128G>A	c.(3127-3129)gGc>gAc	p.G1043D	FLII_ENST00000379450.4_Missense_Mutation_p.G957D|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.G988D|FLII_ENST00000579294.1_Missense_Mutation_p.G1032D	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1043					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CTTCCTCTTGCCCCGGTGGAT	0.637													False	0	True	17:18149700	0	T	18149700	C	T	18149700	3	4	88	1	0	0	0	0	1	0	0	0	5965	739	26	2	709	2	FLII	17	18149700	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4478	18149700	63045510	16397	24109											
FLII	2314	broad.mit.edu	37	chr17	18150248	18150248	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaggaagacgtagcagTcctgcgtgtagaagtggcca	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18150248T>C	ENST00000327031.4	-	22	3020	c.2795A>G	c.(2794-2796)gAc>gGc	p.D932G	FLII_ENST00000379450.4_Missense_Mutation_p.D846G|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.D877G|FLII_ENST00000579294.1_Missense_Mutation_p.D921G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	932	Glu-rich.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GACGTAGCAGTCCTGCGTGTA	0.612													False	0	False	17:18150248	0	C	18150248	T	C	18150248	3	2	88	1	0	0	0	0	1	0	0	0	5965	1667	58	4	1050	4	FLII	17	18150248	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	548	18150248	63044962	16398	24110											
TOP3A	7156	broad.mit.edu	37	chr17	18181033	18181033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggaaaaagccacactgcTgctctctcggcttggcacat	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18181033T>C	ENST00000321105.5	-	18	2997	c.2783A>G	c.(2782-2784)cAg>cGg	p.Q928R	TOP3A_ENST00000542570.1_Missense_Mutation_p.Q833R|TOP3A_ENST00000540524.1_Missense_Mutation_p.Q458R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	928					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GCCACACTGCTGCTCTCTCGG	0.582													False	0	False	17:18181033	0	C	18181033	T	C	18181033	3	2	88	1	0	0	0	0	1	0	0	0	16450	1580	55	4	230	4	TOP3A	17	18181033	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30785	18181033	63014177	16399	24111											
TOP3A	7156	broad.mit.edu	37	chr17	18194223	18194223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaatcatgaggccatggGccacaaagcgttcctgagcg	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18194223G>A	ENST00000321105.5	-	12	1614	c.1400C>T	c.(1399-1401)gCc>gTc	p.A467V	TOP3A_ENST00000542570.1_Missense_Mutation_p.A372V|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	467					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGGCCATGGGCCACAAAGCG	0.522													False	0	True	17:18194223	0	A	18194223	G	A	18194223	3	1	88	1	0	0	0	0	1	0	0	0	16450	1203	42	2	1637	2	TOP3A	17	18194223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13190	18194223	63000987	16400	24112											
TOP3A	7156	broad.mit.edu	37	chr17	18194249	18194249	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagcgttcctgagcgatgtcGatctccactgtggtctcctg	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18194249G>A	ENST00000321105.5	-	12	1588	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	TOP3A_ENST00000542570.1_Silent_p.I363I|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	458					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGCGATGTCGATCTCCACTG	0.512													False	0	False	17:18194249	0	A	18194249	G	A	18194249	2	1	88	1	0	0	0	0	0	0	0	1	16450	1048	37	1		1	TOP3A	17	18194249	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	18194249	63000961	16401	24113											
TOP3A	7156	broad.mit.edu	37	chr17	18198077	18198077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagcatttattctcaactttCgagaagccagcttctcaagc	6	11	2	1	rs145416998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18198077C>T	ENST00000321105.5	-	10	1227	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	TOP3A_ENST00000542570.1_Missense_Mutation_p.R243Q|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	338					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TCTCAACTTTCGAGAAGCCAG	0.433													False	0	True	17:18198077	0	T	18198077	C	T	18198077	3	4	88	1	0	0	0	0	1	0	0	0	16450	884	31	1	2032	1	TOP3A	17	18198077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3828	18198077	62997133	16402	24114											
SMCR8	140775	broad.mit.edu	37	chr17	18219764	18219764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatccagaagaaagccaacGacaaaggcttttactcatct	7	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18219764G>A	ENST00000406438.3	+	1	1141	c.661G>A	c.(661-663)Gac>Aac	p.D221N		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	221										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAAAGCCAACGACAAAGGCTT	0.463													False	0	False	17:18219764	0	A	18219764	G	A	18219764	3	1	88	1	0	0	0	0	1	0	0	0	14872	1058	37	1	663	1	SMCR8	17	18219764	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21687	18219764	62975446	16403	24115											
SMCR8	140775	broad.mit.edu	37	chr17	18219847	18219847	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcattgaacatcaagaCctgctgaagcagatccgctc	7	13	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18219847C>T	ENST00000406438.3	+	1	1224	c.744C>T	c.(742-744)gaC>gaT	p.D248D		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	248										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AACATCAAGACCTGCTGAAGC	0.498													False	0	False	17:18219847	0	T	18219847	C	T	18219847	2	4	88	1	0	0	0	0	0	0	0	1	14872	506	18	2		2	SMCR8	17	18219847	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	18219847	62975363	16404	24116											
SMCR8	140775	broad.mit.edu	37	chr17	18221147	18221147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagctacgtgagcagtgtaGcgtccaccagctcagacagg	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18221147G>A	ENST00000406438.3	+	1	2524	c.2044G>A	c.(2044-2046)Gcg>Acg	p.A682T		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	682										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAGCAGTGTAGCGTCCACCAG	0.562													False	0	False	17:18221147	0	A	18221147	G	A	18221147	3	1	88	1	0	0	0	0	1	0	0	0	14872	971	34	2	2046	2	SMCR8	17	18221147	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1300	18221147	62974063	16405	24117											
SHMT1	6470	broad.mit.edu	37	chr17	18232655	18232655	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagtccacgggacgtcagtgCtggggtccccagccgcagtc	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18232655C>A	ENST00000316694.3	-	11	1353	c.1219G>T	c.(1219-1221)Gca>Tca	p.A407S	SHMT1_ENST00000352886.6_Missense_Mutation_p.A327S|SHMT1_ENST00000539052.1_Missense_Mutation_p.A269S|SHMT1_ENST00000354098.3_Missense_Mutation_p.A368S	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	407					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GACGTCAGTGCTGGGGTCCCC	0.502													False	0	False	17:18232655	0	A	18232655	C	A	18232655	3	1	88	1	0	0	0	0	1	0	0	0	14366	797	28	3	240	3	SHMT1	17	18232655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11508	18232655	62962555	16406	24118											
TRIM16L	147166	broad.mit.edu	37	chr17	18638416	18638416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctatgttggcctgacctgCaaaggcatcgaccagaaagg	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18638416C>T	ENST00000449552.2	+	7	2174	c.690C>T	c.(688-690)tgC>tgT	p.C230C	TRIM16L_ENST00000571708.1_Silent_p.C230C|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000572555.1_Silent_p.C230C|TRIM16L_ENST00000395902.3_Silent_p.C284C|TRIM16L_ENST00000395672.2_Silent_p.C230C|TRIM16L_ENST00000395671.4_Silent_p.C230C			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	230	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GCCTGACCTGCAAAGGCATCG	0.572													False	0	True	17:18638416	0	T	18638416	C	T	18638416	2	4	88	1	0	0	0	0	0	0	0	1	16575	718	25	2		2	TRIM16L	17	18638416	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	405761	18638416	62556794	16407	24119											
TRIM16L	147166	broad.mit.edu	37	chr17	18638561	18638561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctggccctttctggaggCtcggggtctatattgacttc	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18638561C>T	ENST00000449552.2	+	7	2319	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F	TRIM16L_ENST00000571708.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000572555.1_Missense_Mutation_p.L279F|TRIM16L_ENST00000395902.3_Missense_Mutation_p.L333F|TRIM16L_ENST00000395672.2_Missense_Mutation_p.L279F|TRIM16L_ENST00000395671.4_Missense_Mutation_p.L279F			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	279	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TTTCTGGAGGCTCGGGGTCTA	0.517													False	0	False	17:18638561	0	T	18638561	C	T	18638561	3	4	88	1	0	0	0	0	1	0	0	0	16575	797	28	2	849	2	TRIM16L	17	18638561	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	18638561	62556649	16408	24120											
FBXW10	10517	broad.mit.edu	37	chr17	18647799	18647799	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaatatccttcagaccacacAgggaaaggatttcatctata	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18647799A>C	ENST00000308799.4	+	1	461	c.242A>C	c.(241-243)cAg>cCg	p.Q81P	FBXW10_ENST00000301938.4_Missense_Mutation_p.Q81P|FBXW10_ENST00000395667.1_Missense_Mutation_p.Q81P|FBXW10_ENST00000395665.4_Missense_Mutation_p.Q81P			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	81										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CAGACCACACAGGGAAAGGAT	0.388													False	0	True	17:18647799	0	C	18647799	A	C	18647799	3	2	88	1	0	0	0	0	1	0	0	0	5803	188	7	4	244	4	FBXW10	17	18647799	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9238	18647799	62547411	16409	24121											
FBXW10	10517	broad.mit.edu	37	chr17	18653271	18653271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggggatttcccagacacCtcccctcttggcccagttct	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18653271C>T	ENST00000308799.4	+	3	1126	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395667.1_Intron|FBXW10_ENST00000395665.4_Intron			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	293	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCCAGACACCTCCCCTCTTG	0.517													False	0	False	17:18653271	0	T	18653271	C	T	18653271	3	4	88	1	0	0	0	0	1	0	0	0	5803	696	24	2		2	FBXW10	17	18653271	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5472	18653271	62541939	16410	24122											
FAM83G	644815	broad.mit.edu	37	chr17	18881119	18881119	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgagtgctctctcacctcGaagtactcctctgacacaga	7	14	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881119G>A	ENST00000388995.6	-	5	2083	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	FAM83G_ENST00000345041.4_Silent_p.F620F|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Silent_p.F620F|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	620										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTCTCACCTCGAAGTACTCCT	0.667													False	0	False	17:18881119	0	A	18881119	G	A	18881119	2	1	88	1	0	0	0	0	0	0	0	1	5679	1049	37	1		1	FAM83G	17	18881119	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227848	18881119	62314091	16411	24123											
FAM83G	644815	broad.mit.edu	37	chr17	18881246	18881246	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcatcttcttcttccaccCcatccagcccattggggagc	6	17	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881246C>A	ENST00000388995.6	-	5	1956	c.1733G>T	c.(1732-1734)gGg>gTg	p.G578V	FAM83G_ENST00000345041.4_Missense_Mutation_p.G578V|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.G578V|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	578										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TTCTTCCACCCCATCCAGCCC	0.667													False	0	True	17:18881246	0	A	18881246	C	A	18881246	3	1	88	1	0	0	0	0	1	0	0	0	5679	623	22	3	746	3	FAM83G	17	18881246	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	18881246	62313964	16412	24124											
FAM83G	644815	broad.mit.edu	37	chr17	18881682	18881682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggttccagatgttggggtCgatgatattgatgtagccca	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881682C>T	ENST00000388995.6	-	5	1520	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	FAM83G_ENST00000345041.4_Missense_Mutation_p.D433N|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D433N|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	433										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATGTTGGGGTCGATGATATTG	0.612													False	0	False	17:18881682	0	T	18881682	C	T	18881682	3	4	88	1	0	0	0	0	1	0	0	0	5679	884	31	1	1182	1	FAM83G	17	18881682	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	436	18881682	62313528	16413	24125											
FAM83G	644815	broad.mit.edu	37	chr17	18881887	18881887	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggcctcctgcttctcagaGgagatcttggcaatctcgtc	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881887G>T	ENST00000388995.6	-	5	1315	c.1092C>A	c.(1090-1092)tcC>tcA	p.S364S	FAM83G_ENST00000345041.4_Silent_p.S364S|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Silent_p.S364S|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	364										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCTTCTCAGAGGAGATCTTGG	0.637													False	0	False	17:18881887	0	T	18881887	G	T	18881887	2	4	88	1	0	0	0	0	0	0	0	1	5679	987	35	3		3	FAM83G	17	18881887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205	18881887	62313323	16414	24126											
FAM83G	644815	broad.mit.edu	37	chr17	18881907	18881907	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagatcttggcaatctcgtCgacgctcttggccttgacaa	11	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881907C>T	ENST00000388995.6	-	5	1295	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	FAM83G_ENST00000345041.4_Missense_Mutation_p.D358N|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.D358N|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	358										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCAATCTCGTCGACGCTCTTG	0.627													False	0	False	17:18881907	0	T	18881907	C	T	18881907	3	4	88	1	0	0	0	0	1	0	0	0	5679	884	31	1	1407	1	FAM83G	17	18881907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	18881907	62313303	16415	24127											
SLC5A10	125206	broad.mit.edu	37	chr17	18918395	18918395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgatcgcagtgatgctggCggcgctcatgtcgtcgctga	15	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18918395C>T	ENST00000317977.6	+	10	1494	c.923C>T	c.(922-924)gCg>gTg	p.A308V	SLC5A10_ENST00000395643.2_Missense_Mutation_p.A348V|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A391V|SLC5A10_ENST00000395642.1_Missense_Mutation_p.A308V|SLC5A10_ENST00000395645.3_Missense_Mutation_p.A375V|SLC5A10_ENST00000417251.2_Missense_Mutation_p.A339V	NM_001282417.1	NP_001269346.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	375					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GTGATGCTGGCGGCGCTCATG	0.672													False	0	False	17:18918395	0	T	18918395	C	T	18918395	3	4	88	1	0	0	0	0	1	0	0	0	14742	768	27	1	1214	1	SLC5A10	17	18918395	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36488	18918395	62276815	16416	24128											
GRAP	10750	broad.mit.edu	37	chr17	18925281	18925281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgggctgctcacaggtgCacgggctgcacgtaactccg	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18925281C>T	ENST00000573099.1	-	4	546	c.476G>A	c.(475-477)tGc>tAc	p.C159Y	GRAP_ENST00000395635.1_Silent_p.V186V|SLC5A10_ENST00000317977.6_3'UTR|GRAP_ENST00000284154.5_Silent_p.V215V			Q13588	GRAP_HUMAN	GRB2-related adaptor protein	0	SH3 2.				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					CTCACAGGTGCACGGGCTGCA	0.652													False	0	False	17:18925281	0	T	18925281	C	T	18925281	3	4	88	1	0	0	0	0	1	0	0	0	6800	697	25	2	12	2	GRAP	17	18925281	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6886	18925281	62269929	16417	24129											
MAPK7	5598	broad.mit.edu	37	chr17	19283107	19283107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcaggccagcaggtggCcatcaagaagatccctaatg	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19283107C>T	ENST00000308406.5	+	3	631	c.245C>T	c.(244-246)gCc>gTc	p.A82V	MAPK7_ENST00000395602.4_Missense_Mutation_p.A82V|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.A82V|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	82	Protein kinase.|Required for binding to MAP2K5 (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAGCAGGTGGCCATCAAGAAG	0.522													False	0	False	17:19283107	0	T	19283107	C	T	19283107	3	4	88	1	0	0	0	0	1	0	0	0	9349	739	26	2	251	2	MAPK7	17	19283107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	357826	19283107	61912103	16418	24130											
MAPK7	5598	broad.mit.edu	37	chr17	19283132	19283132	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagaagatccctaatgctttCgatgtggtgaccaatgccaa	9	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19283132C>T	ENST00000308406.5	+	3	656	c.270C>T	c.(268-270)ttC>ttT	p.F90F	MAPK7_ENST00000395602.4_Silent_p.F90F|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395604.3_Silent_p.F90F|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	90	Protein kinase.|Required for binding to MAP2K5 (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	p.F90F(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTAATGCTTTCGATGTGGTGA	0.527													False	0	True	17:19283132	0	T	19283132	C	T	19283132	2	4	88	1	0	0	0	0	0	0	0	1	9349	883	31	1		1	MAPK7	17	19283132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25	19283132	61912078	16419	24131											
MAPK7	5598	broad.mit.edu	37	chr17	19284985	19284985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgctcaagtctttgaGgagccggctcagaggtgcct	13	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19284985G>T	ENST00000308406.5	+	4	1849	c.1463G>T	c.(1462-1464)aGg>aTg	p.R488M	MAPK7_ENST00000395602.4_Missense_Mutation_p.R488M|MAPK7_ENST00000299612.7_Missense_Mutation_p.R349M|MAPK7_ENST00000395604.3_Missense_Mutation_p.R488M|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	488	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGTCTTTGAGGAGCCGGCTC	0.572													False	0	False	17:19284985	0	T	19284985	G	T	19284985	3	4	88	1	0	0	0	0	1	0	0	0	9349	1000	35	3	1473	3	MAPK7	17	19284985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1853	19284985	61910225	16420	24132											
MAPK7	5598	broad.mit.edu	37	chr17	19286192	19286192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggggctggctacggtgttGgctttgacctggaggaattc	17	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19286192G>A	ENST00000308406.5	+	6	2616	c.2230G>A	c.(2230-2232)Ggc>Agc	p.G744S	MAPK7_ENST00000395602.4_Missense_Mutation_p.G744S|MAPK7_ENST00000299612.7_Missense_Mutation_p.G605S|MAPK7_ENST00000395604.3_Missense_Mutation_p.G744S|MAPK7_ENST00000571657.1_3'UTR	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	744	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTACGGTGTTGGCTTTGACCT	0.577													False	0	False	17:19286192	0	A	19286192	G	A	19286192	3	1	88	1	0	0	0	0	1	0	0	0	9349	1348	47	2	2248	2	MAPK7	17	19286192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1207	19286192	61909018	16421	24133											
MAPK7	5598	broad.mit.edu	37	chr17	19286530	19286530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctggctgacctgcctgacCtccaggacccctgaggcccc	11	18	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19286530C>A	ENST00000308406.5	+	7	2823	c.2437C>A	c.(2437-2439)Ctc>Atc	p.L813I	MAPK7_ENST00000395602.4_Missense_Mutation_p.L813I|MAPK7_ENST00000299612.7_Missense_Mutation_p.L674I|MAPK7_ENST00000395604.3_Missense_Mutation_p.L813I|MAPK7_ENST00000571657.1_3'UTR	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	813					cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTGCCTGACCTCCAGGACCC	0.597													False	0	False	17:19286530	0	A	19286530	C	A	19286530	3	1	88	1	0	0	0	0	1	0	0	0	9349	681	24	3	2459	3	MAPK7	17	19286530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338	19286530	61908680	16422	24134											
MFAP4	4239	broad.mit.edu	37	chr17	19287868	19287868	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattggcataagagaggtgGgagccacctaggtagaagcc	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19287868G>A	ENST00000395592.2	-	6	818	c.747C>T	c.(745-747)tcC>tcT	p.S249S	MFAP4_ENST00000299610.4_Silent_p.S225S|MFAP4_ENST00000497081.2_Silent_p.S250S	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	225	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGAGAGGTGGGAGCCACCTA	0.567													False	0	True	17:19287868	0	A	19287868	G	A	19287868	2	1	88	1	0	0	0	0	0	0	0	1	9584	1219	43	2		2	MFAP4	17	19287868	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1338	19287868	61907342	16423	24135											
MFAP4	4239	broad.mit.edu	37	chr17	19288434	19288434	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccgccatcctcaaagccTgccacaaagagggtgtagcc	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19288434T>C	ENST00000395592.2	-	5	641	c.570A>G	c.(568-570)gcA>gcG	p.A190A	MFAP4_ENST00000299610.4_Silent_p.A166A|MFAP4_ENST00000497081.2_Silent_p.A191A	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	166	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTCAAAGCCTGCCACAAAGA	0.602													False	0	False	17:19288434	0	C	19288434	T	C	19288434	2	2	88	1	0	0	0	0	0	0	0	1	9584	1567	55	4		4	MFAP4	17	19288434	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566	19288434	61906776	16424	24136											
MFAP4	4239	broad.mit.edu	37	chr17	19289705	19289705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggggtagatgaggtacacgCcgtctgactggtagccctgg	16	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19289705C>T	ENST00000395592.2	-	3	301	c.230G>A	c.(229-231)gGc>gAc	p.G77D	MFAP4_ENST00000299610.4_Missense_Mutation_p.G53D|MFAP4_ENST00000497081.2_Missense_Mutation_p.G78D	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	53	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GAGGTACACGCCGTCTGACTG	0.617													False	0	False	17:19289705	0	T	19289705	C	T	19289705	3	4	88	1	0	0	0	0	1	0	0	0	9584	739	26	2	625	2	MFAP4	17	19289705	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1271	19289705	61905505	16425	24137											
RNF112	7732	broad.mit.edu	37	chr17	19318461	19318461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtactggaacgaggggcgcGccgtggccaggggggacaga	21	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19318461G>A	ENST00000461366.1	+	11	1452	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	413							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGAGGGGCGCGCCGTGGCCAG	0.662													False	0	True	17:19318461	0	A	19318461	G	A	19318461	3	1	88	1	0	0	0	0	1	0	0	0	13505	1087	38	1	989	1	RNF112	17	19318461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28756	19318461	61876749	16426	24138											
ALDH3A2	224	broad.mit.edu	37	chr17	19578929	19578929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtgcctctactgaattattCctcttttaaatggttaatga	6	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19578929C>A	ENST00000571163.1	+	3	285	c.285C>A	c.(283-285)ttC>ttA	p.F95L	ALDH3A2_ENST00000579855.1_3'UTR|ALDH3A2_ENST00000581518.1_3'UTR|ALDH3A2_ENST00000176643.6_3'UTR|ALDH3A2_ENST00000339618.4_3'UTR|ALDH3A2_ENST00000395575.2_3'UTR|ALDH3A2_ENST00000574597.1_3'UTR			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	0					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	CTGAATTATTCCTCTTTTAAA	0.328													False	0	False	17:19578929	0	A	19578929	C	A	19578929	3	1	88	1	0	0	0	0	1	0	0	0	498	870	30	3		3	ALDH3A2	17	19578929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	260468	19578929	61616281	16427	24139											
SLC47A2	146802	broad.mit.edu	37	chr17	19618448	19618448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggccaccgcgagggtcaccGatgccagctccaccttgccc	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19618448G>A	ENST00000350657.5	-	2	380	c.206C>T	c.(205-207)tCg>tTg	p.S69L	SLC47A2_ENST00000325411.5_Missense_Mutation_p.S69L|SLC47A2_ENST00000463318.1_5'UTR	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	69						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GAGGGTCACCGATGCCAGCTC	0.637													False	0	False	17:19618448	0	A	19618448	G	A	19618448	3	1	88	1	0	0	0	0	1	0	0	0	14728	1059	37	1	1666	1	SLC47A2	17	19618448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39519	19618448	61576762	16428	24140											
ALDH3A1	218	broad.mit.edu	37	chr17	19642967	19642967	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccggggactgggggtccaCgtccgtgaggatggtggggg	21	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19642967C>T	ENST00000457500.2	-	7	1299	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V251M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V324M|ALDH3A1_ENST00000395555.3_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V324M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	324					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TGGGGGTCCACGTCCGTGAGG	0.632													False	0	False	17:19642967	0	T	19642967	C	T	19642967	3	4	88	1	0	0	0	0	1	0	0	0	497	536	19	1	407	1	ALDH3A1	17	19642967	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24519	19642967	61552243	16429	24141											
AKAP10	11216	broad.mit.edu	37	chr17	19835269	19835269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttataataaagattgctgGacaaaaagccaggcaaaaag	8	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19835269G>A	ENST00000225737.6	-	10	1647	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	AKAP10_ENST00000395536.3_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	497	RGS 2.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					AAGATTGCTGGACAAAAAGCC	0.353													False	0	False	17:19835269	0	A	19835269	G	A	19835269	3	1	88	1	0	0	0	0	1	0	0	0	446	1174	41	2	522	2	AKAP10	17	19835269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192302	19835269	61359941	16430	24142											
AKAP10	11216	broad.mit.edu	37	chr17	19866323	19866323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttttgtggggaatgtAcggatattgaagctataatt	11	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19866323A>G	ENST00000225737.6	-	3	306	c.149T>C	c.(148-150)gTa>gCa	p.V50A	AKAP10_ENST00000572155.1_5'UTR|AKAP10_ENST00000395536.3_Missense_Mutation_p.V50A	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	50					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TGGGGAATGTACGGATATTGA	0.358													False	0	False	17:19866323	0	G	19866323	A	G	19866323	3	3	88	1	0	0	0	0	1	0	0	0	446	391	14	4	1891	4	AKAP10	17	19866323	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31054	19866323	61328887	16431	24143											
LGALS9B	284194	broad.mit.edu	37	chr17	20354929	20354929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgtggaaggcgatgtgGctcccagagcacaggttgat	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20354929G>T	ENST00000423676.3	-	10	852	c.789C>A	c.(787-789)agC>agA	p.S263R	LGALS9B_ENST00000324290.5_Missense_Mutation_p.S262R			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	263	Galectin 2.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						AGGCGATGTGGCTCCCAGAGC	0.577													False	0	False	17:20354929	0	T	20354929	G	T	20354929	3	4	88	1	0	0	0	0	1	0	0	0	8801	1194	42	3	289	3	LGALS9B	17	20354929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	488606	20354929	60840281	16432	24144											
KCNJ12	3768	broad.mit.edu	37	chr17	21318812	21318812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaagaagaatggccagtGcaacattgagttcgccaaca	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21318812G>A	ENST00000583088.1	+	3	1053	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	KCNJ12_ENST00000331718.5_Missense_Mutation_p.C53Y	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		AATGGCCAGTGCAACATTGAG	0.602										Prostate(3;0.18)			False	0	False	17:21318812	0	A	21318812	G	A	21318812	3	1	88	1	0	0	0	0	1	0	0	0	8096	1319	46	2	160	2	KCNJ12	17	21318812	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	963883	21318812	59876398	16433	24145											
KCNJ12	3768	broad.mit.edu	37	chr17	21319300	21319300	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgcctcatgtggcgtgtgGgtaacctgcgcaagagccac	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21319300G>T	ENST00000583088.1	+	3	1541	c.646G>T	c.(646-648)Ggt>Tgt	p.G216C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G216C	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GTGGCGTGTGGGTAACCTGCG	0.642										Prostate(3;0.18)			False	0	True	17:21319300	0	T	21319300	G	T	21319300	3	4	88	1	0	0	0	0	1	0	0	0	8096	1232	43	3	648	3	KCNJ12	17	21319300	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	488	21319300	59875910	16434	24146											
KCNJ12	3768	broad.mit.edu	37	chr17	21319408	21319408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctggaccagatcgacatcGatgtgggcttcgacaagggc	14	11	0	1	rs145578286	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21319408G>A	ENST00000583088.1	+	3	1649	c.754G>A	c.(754-756)Gat>Aat	p.D252N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D252N	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GATCGACATCGATGTGGGCTT	0.627										Prostate(3;0.18)			False	0	False	17:21319408	0	A	21319408	G	A	21319408	3	1	88	1	0	0	0	0	1	0	0	0	8096	1058	37	1	756	1	KCNJ12	17	21319408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108	21319408	59875802	16435	24147											
KSR1	8844	broad.mit.edu	37	chr17	25909842	25909842	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgctccatctccgtgTcagctctgcccgcctcagac	8	20	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25909842T>C	ENST00000398988.3	+	5	725	c.280T>C	c.(280-282)Tca>Cca	p.S94P	KSR1_ENST00000268763.6_Missense_Mutation_p.S94P|KSR1_ENST00000509603.2_Missense_Mutation_p.S231P|KSR1_ENST00000319524.6_Missense_Mutation_p.S231P	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	229					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CATCTCCGTGTCAGCTCTGCC	0.706													False	0	False	17:25909842	0	C	25909842	T	C	25909842	3	2	88	1	0	0	0	0	1	0	0	0	8632	1667	58	4	286	4	KSR1	17	25909842	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4590434	25909842	55285368	16436	24148											
KSR1	8844	broad.mit.edu	37	chr17	25917918	25917918	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgaagtgcaagcattgCaggtgatgggaagaggagtg	19	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25917918C>T	ENST00000398988.3	+	8	1162	c.717C>T	c.(715-717)tgC>tgT	p.C239C	KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000268763.6_Silent_p.C239C|KSR1_ENST00000509603.2_Silent_p.C376C|KSR1_ENST00000319524.6_Silent_p.C376C	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	374					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCAAGCATTGCAGGTGATGGG	0.522													False	0	False	17:25917918	0	T	25917918	C	T	25917918	2	4	88	1	0	0	0	0	0	0	0	1	8632	718	25	2		2	KSR1	17	25917918	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8076	25917918	55277292	16437	24149											
KSR1	8844	broad.mit.edu	37	chr17	25932780	25932780	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taccggcagacgcggcatgaGaacgtggtgctcttcatggg	15	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25932780G>A	ENST00000398988.3	+	16	2035	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E	KSR1_ENST00000268763.6_Silent_p.E530E|KSR1_ENST00000509603.2_Silent_p.E645E|KSR1_ENST00000319524.6_Silent_p.E667E	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	665					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGCGGCATGAGAACGTGGTGC	0.597													False	0	False	17:25932780	0	A	25932780	G	A	25932780	2	1	88	1	0	0	0	0	0	0	0	1	8632	933	33	2		2	KSR1	17	25932780	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14862	25932780	55262430	16438	24150											
KSR1	8844	broad.mit.edu	37	chr17	25936261	25936261	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccaagggcatcgtacacaaaGatctcaaatctaagaacgtc	7	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25936261G>T	ENST00000398988.3	+	18	2231	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	KSR1_ENST00000268763.6_Missense_Mutation_p.D596Y|KSR1_ENST00000509603.2_Missense_Mutation_p.D711Y|KSR1_ENST00000319524.6_Missense_Mutation_p.D733Y	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	731					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGTACACAAAGATCTCAAATC	0.537													False	0	True	17:25936261	0	T	25936261	G	T	25936261	3	4	88	1	0	0	0	0	1	0	0	0	8632	942	33	3	1840	3	KSR1	17	25936261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3481	25936261	55258949	16439	24151											
KSR1	8844	broad.mit.edu	37	chr17	25937132	25937132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcccacgactggctgtgCtatctggcccctgagattgt	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25937132C>T	ENST00000398988.3	+	19	2365	c.1920C>T	c.(1918-1920)tgC>tgT	p.C640C	KSR1_ENST00000268763.6_Silent_p.C640C|KSR1_ENST00000509603.2_Silent_p.C755C|KSR1_ENST00000582410.1_5'UTR|KSR1_ENST00000319524.6_Silent_p.C777C	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	775	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACTGGCTGTGCTATCTGGCCC	0.577											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:25937132	0	T	25937132	C	T	25937132	2	4	88	1	0	0	0	0	0	0	0	1	8632	805	28	2		2	KSR1	17	25937132	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	871	25937132	55258078	16440	24152											
LGALS9	3965	broad.mit.edu	37	chr17	25970635	25970635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccacccaggcccagggggCgcagacaaaaagtgagttca	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25970635C>T	ENST00000395473.2	+	5	1997	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	LGALS9_ENST00000413914.2_Missense_Mutation_p.R120C|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000310394.5_Intron|LGALS9_ENST00000302228.5_Intron	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	177					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCCCAGGGGGCGCAGACAAAA	0.617													False	0	True	17:25970635	0	T	25970635	C	T	25970635	3	4	88	1	0	0	0	0	1	0	0	0	8800	768	27	1	547	1	LGALS9	17	25970635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33503	25970635	55224575	16441	24153											
NOS2	4843	broad.mit.edu	37	chr17	26091072	26091072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgggccagcttttggaGcagcagctgggttgggggtg	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26091072G>A	ENST00000313735.6	-	21	2760	c.2527C>T	c.(2527-2529)Ctc>Ttc	p.L843F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	843	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGCTTTTGGAGCAGCAGCTGG	0.627													False	0	True	17:26091072	0	A	26091072	G	A	26091072	3	1	88	1	0	0	0	0	1	0	0	0	10611	971	34	2	962	2	NOS2	17	26091072	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120437	26091072	55104138	16442	24154											
NOS2	4843	broad.mit.edu	37	chr17	26101354	26101354	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgggggtgatgctcccagAcatgggagggaccagccaaa	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26101354A>G	ENST00000313735.6	-	12	1638	c.1405T>C	c.(1405-1407)Tct>Cct	p.S469P		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	469					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ATGCTCCCAGACATGGGAGGG	0.562													False	0	False	17:26101354	0	G	26101354	A	G	26101354	3	3	88	1	0	0	0	0	1	0	0	0	10611	275	10	4	2120	4	NOS2	17	26101354	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10282	26101354	55093856	16443	24155											
NOS2	4843	broad.mit.edu	37	chr17	26110096	26110096	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttctatctcctttgttacCgcttccaccctggccagatg	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26110096C>T	ENST00000313735.6	-	6	737	c.504G>A	c.(502-504)gcG>gcA	p.A168A		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	168					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCTTTGTTACCGCTTCCACCC	0.517													False	0	False	17:26110096	0	T	26110096	C	T	26110096	2	4	88	1	0	0	0	0	0	0	0	1	10611	639	23	1		1	NOS2	17	26110096	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8742	26110096	55085114	16444	24156											
NOS2	4843	broad.mit.edu	37	chr17	26115921	26115921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccgtggggaggacaatgGggttgcatccagcttgacca	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26115921G>A	ENST00000313735.6	-	4	465	c.232C>T	c.(232-234)Cca>Tca	p.P78S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	78					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GAGGACAATGGGGTTGCATCC	0.537													False	0	True	17:26115921	0	A	26115921	G	A	26115921	3	1	88	1	0	0	0	0	1	0	0	0	10611	1232	43	2	3325	2	NOS2	17	26115921	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5825	26115921	55079289	16445	24157											
NLK	51701	broad.mit.edu	37	chr17	26495604	26495604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcattacagcaatgctattgAcatctggtctgtgggatgta	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26495604A>G	ENST00000407008.3	+	6	1686	c.968A>G	c.(967-969)gAc>gGc	p.D323G		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	323	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AATGCTATTGACATCTGGTCT	0.428													False	0	False	17:26495604	0	G	26495604	A	G	26495604	3	3	88	1	0	0	0	0	1	0	0	0	10534	275	10	4	990	4	NLK	17	26495604	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	379683	26495604	54699606	16446	24158											
TMEM97	27346	broad.mit.edu	37	chr17	26653722	26653722	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaacggttaacccttgtgtCtgtctatgccccctacttac	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26653722C>T	ENST00000226230.6	+	3	579	c.434C>T	c.(433-435)tCt>tTt	p.S145F	TMEM97_ENST00000583381.1_Missense_Mutation_p.S38F|TMEM97_ENST00000336687.6_Missense_Mutation_p.S38F	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	145					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding			endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACCCTTGTGTCTGTCTATGCC	0.408													False	0	True	17:26653722	0	T	26653722	C	T	26653722	3	4	88	1	0	0	0	0	1	0	0	0	16306	913	32	2	444	2	TMEM97	17	26653722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158118	26653722	54541488	16447	24159											
VTN	7448	broad.mit.edu	37	chr17	26695591	26695591	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtcctcccagctgtcCcgctgcatcatggcaaagtg	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26695591C>A	ENST00000226218.4	-	6	1548	c.930G>T	c.(928-930)cgG>cgT	p.R310R	VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	310					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CCCAGCTGTCCCGCTGCATCA	0.557													False	0	True	17:26695591	0	A	26695591	C	A	26695591	2	1	88	1	0	0	0	0	0	0	0	1	17321	610	22	3		3	VTN	17	26695591	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41869	26695591	54499619	16448	24160											
VTN	7448	broad.mit.edu	37	chr17	26695907	26695907	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtacccttgaagaagtagAcccgctcccggccactgtag	11	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26695907A>G	ENST00000226218.4	-	5	1430	c.812T>C	c.(811-813)gTc>gCc	p.V271A	VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	271	Hemopexin-like 3.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GAAGAAGTAGACCCGCTCCCG	0.582													False	0	True	17:26695907	0	G	26695907	A	G	26695907	3	3	88	1	0	0	0	0	1	0	0	0	17321	275	10	4	640	4	VTN	17	26695907	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	316	26695907	54499303	16449	24161											
VTN	7448	broad.mit.edu	37	chr17	26696370	26696370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcggcatcgatggggccCtcgatgccccagacatctcg	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26696370C>T	ENST00000226218.4	-	4	1227	c.609G>A	c.(607-609)gaG>gaA	p.E203E	VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	203	Hemopexin-like 1.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CGATGGGGCCCTCGATGCCCC	0.587													False	0	True	17:26696370	0	T	26696370	C	T	26696370	2	4	88	1	0	0	0	0	0	0	0	1	17321	680	24	2		2	VTN	17	26696370	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463	26696370	54498840	16450	24162											
PIGS	94005	broad.mit.edu	37	chr17	26888486	26888486	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttctcagcgctccacttgtcCtctggaaggtggtcagccag	11	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26888486C>A	ENST00000308360.7	-	6	1005	c.630G>T	c.(628-630)gaG>gaT	p.E210D	PIGS_ENST00000543734.1_Missense_Mutation_p.E149D|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.E202D	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	210					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCCACTTGTCCTCTGGAAGGT	0.572													False	0	False	17:26888486	0	A	26888486	C	A	26888486	3	1	88	1	0	0	0	0	1	0	0	0	11967	680	24	3	1065	3	PIGS	17	26888486	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192116	26888486	54306724	16451	24163											
PIGS	94005	broad.mit.edu	37	chr17	26890850	26890850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccataccttgcacactgcccGatgacagggcctcctcctca	7	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26890850G>A	ENST00000308360.7	-	4	737	c.362C>T	c.(361-363)tCg>tTg	p.S121L	PIGS_ENST00000543734.1_Missense_Mutation_p.S60L|PIGS_ENST00000395346.2_Missense_Mutation_p.S113L	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	121					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CACACTGCCCGATGACAGGGC	0.483													False	0	True	17:26890850	0	A	26890850	G	A	26890850	3	1	88	1	0	0	0	0	1	0	0	0	11967	1059	37	1	1341	1	PIGS	17	26890850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2364	26890850	54304360	16452	24164											
SPAG5	10615	broad.mit.edu	37	chr17	26918763	26918763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctactgtcctgggtttctgGgtgagggacagccagctggc	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26918763G>A	ENST00000321765.5	-	4	1722	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	464					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGGGTTTCTGGGTGAGGGACA	0.537													False	0	True	17:26918763	0	A	26918763	G	A	26918763	3	1	88	1	0	0	0	0	1	0	0	0	15063	1232	43	2	2275	2	SPAG5	17	26918763	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27913	26918763	54276447	16453	24165											
SPAG5	10615	broad.mit.edu	37	chr17	26919983	26919983	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatctgattcatgctgAcaagtttctagccactttga	7	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26919983A>G	ENST00000321765.5	-	3	611	c.279T>C	c.(277-279)tgT>tgC	p.C93C		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	93					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATTCATGCTGACAAGTTTCTA	0.423													False	0	False	17:26919983	0	G	26919983	A	G	26919983	2	3	88	1	0	0	0	0	0	0	0	1	15063	273	10	4		4	SPAG5	17	26919983	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1220	26919983	54275227	16454	24166											
KIAA0100	9703	broad.mit.edu	37	chr17	26942089	26942089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaatcgccaaatcatttgCgcctgccaaagatggacttc	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26942089C>T	ENST00000528896.2	-	39	6775	c.6701G>A	c.(6700-6702)cGc>cAc	p.R2234H	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2234						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAATCATTTGCGCCTGCCAAA	0.562													False	0	False	17:26942089	0	T	26942089	C	T	26942089	3	4	88	1	0	0	0	0	1	0	0	0	8204	768	27	1	10	1	KIAA0100	17	26942089	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22106	26942089	54253121	16455	24167											
KIAA0100	9703	broad.mit.edu	37	chr17	26943182	26943182	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagttgttcatggcagctcGctctttcatcttgtcaatgt	10	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26943182G>A	ENST00000528896.2	-	37	6396	c.6322C>T	c.(6322-6324)Cga>Tga	p.R2108*	KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.R1965*|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.R1965*|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2108						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ATGGCAGCTCGCTCTTTCATC	0.478													False	0	True	17:26943182	0	A	26943182	G	A	26943182	4	1	88	1	0	0	0	0	0	1	0	0	8204	1095	38	1	397	1	KIAA0100	17	26943182	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1093	26943182	54252028	16456	24168											
KIAA0100	9703	broad.mit.edu	37	chr17	26943464	26943464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccctgtgccacacccttcCcagggcccagtggtactgca	9	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26943464C>T	ENST00000528896.2	-	36	6295	c.6221G>A	c.(6220-6222)gGg>gAg	p.G2074E	KIAA0100_ENST00000389003.3_Missense_Mutation_p.G1931E|KIAA0100_ENST00000544884.1_Missense_Mutation_p.G1931E|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2074						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CACACCCTTCCCAGGGCCCAG	0.512													False	0	True	17:26943464	0	T	26943464	C	T	26943464	3	4	88	1	0	0	0	0	1	0	0	0	8204	623	22	2	502	2	KIAA0100	17	26943464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282	26943464	54251746	16457	24169											
KIAA0100	9703	broad.mit.edu	37	chr17	26947532	26947532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcccatgctcaccttccGcttaggttctacatggagca	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26947532G>A	ENST00000528896.2	-	29	5433	c.5359C>T	c.(5359-5361)Cgg>Tgg	p.R1787W	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1644W|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1644W	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1787						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTCACCTTCCGCTTAGGTTCT	0.493													False	0	False	17:26947532	0	A	26947532	G	A	26947532	3	1	88	1	0	0	0	0	1	0	0	0	8204	1086	38	1	1392	1	KIAA0100	17	26947532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4068	26947532	54247678	16458	24170											
KIAA0100	9703	broad.mit.edu	37	chr17	26964865	26964865	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccacttaccaaccaaggcaGaaagggtaaacaagttcatg	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26964865G>T	ENST00000528896.2	-	14	1834	c.1760C>A	c.(1759-1761)tCt>tAt	p.S587Y	KIAA0100_ENST00000389003.3_Missense_Mutation_p.S444Y|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S444Y	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	587						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AACCAAGGCAGAAAGGGTAAA	0.488													False	0	True	17:26964865	0	T	26964865	G	T	26964865	3	4	88	1	0	0	0	0	1	0	0	0	8204	942	33	3	5051	3	KIAA0100	17	26964865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17333	26964865	54230345	16459	24171											
KIAA0100	9703	broad.mit.edu	37	chr17	26965068	26965068	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaatcaagaaaaagggtAtctgactgggtgctggacag	13	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26965068A>G	ENST00000528896.2	-	14	1631	c.1557T>C	c.(1555-1557)gaT>gaC	p.D519D	KIAA0100_ENST00000389003.3_Silent_p.D376D|KIAA0100_ENST00000544884.1_Silent_p.D376D	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	519						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GAAAAAGGGTATCTGACTGGG	0.478													False	0	False	17:26965068	0	G	26965068	A	G	26965068	2	3	88	1	0	0	0	0	0	0	0	1	8204	446	16	4		4	KIAA0100	17	26965068	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	203	26965068	54230142	16460	24172											
KIAA0100	9703	broad.mit.edu	37	chr17	26969931	26969931	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctgcttctactgatctgAatatgccataaggactcaga	7	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26969931A>C	ENST00000528896.2	-	5	545	c.471T>G	c.(469-471)atT>atG	p.I157M	KIAA0100_ENST00000389003.3_Missense_Mutation_p.I14M|KIAA0100_ENST00000544884.1_Missense_Mutation_p.I14M	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	157						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TACTGATCTGAATATGCCATA	0.438													False	0	False	17:26969931	0	C	26969931	A	C	26969931	3	2	88	1	0	0	0	0	1	0	0	0	8204	242	9	4	6376	4	KIAA0100	17	26969931	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4863	26969931	54225279	16461	24173											
SUPT6H	6830	broad.mit.edu	37	chr17	27010748	27010748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcaccatggccatcgaaCgggctttacagcagttcctc	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27010748C>T	ENST00000314616.6	+	17	2426	c.2143C>T	c.(2143-2145)Cgg>Tgg	p.R715W	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R715W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	715					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	p.R715W(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGCCATCGAACGGGCTTTACA	0.498													False	0	True	17:27010748	0	T	27010748	C	T	27010748	3	4	88	1	0	0	0	0	1	0	0	0	15482	527	19	1	2205	1	SUPT6H	17	27010748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40817	27010748	54184462	16462	24174											
SUPT6H	6830	broad.mit.edu	37	chr17	27010820	27010820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgctggctgaagccaagGaatatgtcataaaggtgagg	14	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27010820G>A	ENST00000314616.6	+	17	2498	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E739K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	739					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGAAGCCAAGGAATATGTCAT	0.493													False	0	False	17:27010820	0	A	27010820	G	A	27010820	3	1	88	1	0	0	0	0	1	0	0	0	15482	1175	41	2	2277	2	SUPT6H	17	27010820	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72	27010820	54184390	16463	24175											
SUPT6H	6830	broad.mit.edu	37	chr17	27022515	27022515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgactttgatgctgaagCtgcagaccacaagcaggagg	12	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27022515C>T	ENST00000314616.6	+	29	4203	c.3920C>T	c.(3919-3921)gCt>gTt	p.A1307V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1307V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1307					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATGCTGAAGCTGCAGACCAC	0.552													False	0	False	17:27022515	0	T	27022515	C	T	27022515	3	4	88	1	0	0	0	0	1	0	0	0	15482	797	28	2	4030	2	SUPT6H	17	27022515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11695	27022515	54172695	16464	24176											
SUPT6H	6830	broad.mit.edu	37	chr17	27027385	27027385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgacacgggctgtgaatgCcctgcctcagaacatgactt	10	12	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27027385C>T	ENST00000314616.6	+	35	4944	c.4661C>T	c.(4660-4662)gCc>gTc	p.A1554V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1554V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1554					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCTGTGAATGCCCTGCCTCAG	0.572													False	0	True	17:27027385	0	T	27027385	C	T	27027385	3	4	88	1	0	0	0	0	1	0	0	0	15482	739	26	2	4795	2	SUPT6H	17	27027385	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4870	27027385	54167825	16465	24177											
NEK8	284086	broad.mit.edu	37	chr17	27061014	27061014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctaggattgtgcacctgTgcctgcgaaaggctgaccag	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27061014T>C	ENST00000268766.6	+	2	95	c.61T>C	c.(61-63)Tgc>Cgc	p.C21R	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	21	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGTGCACCTGTGCCTGCGAAA	0.562													False	0	False	17:27061014	0	C	27061014	T	C	27061014	3	2	88	1	0	0	0	0	1	0	0	0	10398	1696	59	4	67	4	NEK8	17	27061014	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33629	27061014	54134196	16466	24178											
NEK8	284086	broad.mit.edu	37	chr17	27067558	27067558	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggacaggaagctcagCgagttgtatgtggtatcgat	13	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27067558C>T	ENST00000268766.6	+	11	1529	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	499						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GGAAGCTCAGCGAGTTGTATG	0.572													False	0	False	17:27067558	0	T	27067558	C	T	27067558	4	4	88	1	0	0	0	0	0	1	0	0	10398	760	27	1	1537	1	NEK8	17	27067558	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6544	27067558	54127652	16467	24179											
TRAF4	9618	broad.mit.edu	37	chr17	27071139	27071139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcgcccgccatgcctggCttcgactacaagttcctgga	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27071139C>T	ENST00000262395.5	+	1	138	c.9C>T	c.(7-9)ggC>ggT	p.G3G	TRAF4_ENST00000262396.6_Silent_p.G3G|TRAF4_ENST00000444415.3_Silent_p.G3G	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	3					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CCATGCCTGGCTTCGACTACA	0.746													False	0	False	17:27071139	0	T	27071139	C	T	27071139	2	4	88	1	0	0	0	0	0	0	0	1	16526	784	28	2		2	TRAF4	17	27071139	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3581	27071139	54124071	16468	24180											
TRAF4	9618	broad.mit.edu	37	chr17	27075073	27075073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcaatgtcattccctgCcctaatcgctgccccatgaa	6	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27075073C>T	ENST00000262395.5	+	4	468	c.339C>T	c.(337-339)tgC>tgT	p.C113C	TRAF4_ENST00000262396.6_Silent_p.C113C|TRAF4_ENST00000444415.3_Silent_p.C113C	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	113					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TCATTCCCTGCCCTAATCGCT	0.587													False	0	True	17:27075073	0	T	27075073	C	T	27075073	2	4	88	1	0	0	0	0	0	0	0	1	16526	747	26	2		2	TRAF4	17	27075073	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3934	27075073	54120137	16469	24181											
TRAF4	9618	broad.mit.edu	37	chr17	27076400	27076400	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaccacagcacgtcactgaGaccttccaccccgacccaaa	5	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27076400G>A	ENST00000262395.5	+	7	1347	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	TRAF4_ENST00000262396.6_Intron|TRAF4_ENST00000444415.3_Intron	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	406	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ACGTCACTGAGACCTTCCACC	0.577													False	0	False	17:27076400	0	A	27076400	G	A	27076400	2	1	88	1	0	0	0	0	0	0	0	1	16526	933	33	2		2	TRAF4	17	27076400	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1327	27076400	54118810	16470	24182											
ERAL1	26284	broad.mit.edu	37	chr17	27185169	27185169	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgtccctcaggcatcAcctggagctctctttgttgg	10	12	4	0	rs139024598	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27185169A>G	ENST00000254928.5	+	5	639	c.542A>G	c.(541-543)cAc>cGc	p.H181R	ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	181	G.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTCAGGCATCACCTGGAGCTC	0.478													False	0	False	17:27185169	0	G	27185169	A	G	27185169	3	3	88	1	0	0	0	0	1	0	0	0	5234	159	6	4	560	4	ERAL1	17	27185169	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108769	27185169	54010041	16471	24183											
FLOT2	2319	broad.mit.edu	37	chr17	27207787	27207787	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggcagctcggccagcaGtcggttcacttctgatgtga	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27207787G>A	ENST00000394906.2	-	12	1434	c.1357C>T	c.(1357-1359)Ctg>Ttg	p.L453L	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Silent_p.L398L|FLOT2_ENST00000585169.1_Silent_p.L398L			Q14254	FLOT2_HUMAN	flotillin 2	398					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TCGGCCAGCAGTCGGTTCACT	0.577													False	0	False	17:27207787	0	A	27207787	G	A	27207787	2	1	88	1	0	0	0	0	0	0	0	1	5977	1020	36	2		2	FLOT2	17	27207787	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22618	27207787	53987423	16472	24184											
FLOT2	2319	broad.mit.edu	37	chr17	27208313	27208313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctctgccttgcccatcGcctcgatgactgccgcttcc	8	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27208313G>A	ENST00000394906.2	-	11	1237	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Missense_Mutation_p.A332V|FLOT2_ENST00000585169.1_Missense_Mutation_p.A332V			Q14254	FLOT2_HUMAN	flotillin 2	332					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTTGCCCATCGCCTCGATGAC	0.622													False	0	False	17:27208313	0	A	27208313	G	A	27208313	3	1	88	1	0	0	0	0	1	0	0	0	5977	1087	38	1	303	1	FLOT2	17	27208313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	526	27208313	53986897	16473	24185											
DHRS13	147015	broad.mit.edu	37	chr17	27225599	27225599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcttagagaagatggggCctctgagtcctcagactggg	16	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27225599C>T	ENST00000394901.3	-	4	1236	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	DHRS13_ENST00000426464.2_Missense_Mutation_p.A251T|DHRS13_ENST00000378895.4_Missense_Mutation_p.A332T|RP11-20B24.4_ENST00000580603.1_RNA|RP11-20B24.4_ENST00000579187.1_RNA			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	332						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GAAGATGGGGCCTCTGAGTCC	0.612													False	0	True	17:27225599	0	T	27225599	C	T	27225599	3	4	88	1	0	0	0	0	1	0	0	0	4519	739	26	2	143	2	DHRS13	17	27225599	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17286	27225599	53969611	16474	24186											
DHRS13	147015	broad.mit.edu	37	chr17	27228272	27228272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggaccgatatggttcacccGaagcagcaggttaaacgcct	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27228272G>A	ENST00000394901.3	-	3	660	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	DHRS13_ENST00000426464.2_Missense_Mutation_p.R59W|DHRS13_ENST00000378895.4_Missense_Mutation_p.R140W			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	140						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TGGTTCACCCGAAGCAGCAGG	0.602													False	0	True	17:27228272	0	A	27228272	G	A	27228272	3	1	88	1	0	0	0	0	1	0	0	0	4519	1057	37	1	723	1	DHRS13	17	27228272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2673	27228272	53966938	16475	24187											
DHRS13	147015	broad.mit.edu	37	chr17	27228610	27228610	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagtccaaggccatgaAgatgacctcattgttcccac	9	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27228610A>C	ENST00000394901.3	-	2	513	c.121T>G	c.(121-123)Ttc>Gtc	p.F41V	DHRS13_ENST00000426464.2_Intron|DHRS13_ENST00000378895.4_Missense_Mutation_p.F91V			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	91						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AAGGCCATGAAGATGACCTCA	0.587													False	0	False	17:27228610	0	C	27228610	A	C	27228610	3	2	88	1	0	0	0	0	1	0	0	0	4519	72	3	4	874	4	DHRS13	17	27228610	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	338	27228610	53966600	16476	24188											
PHF12	57649	broad.mit.edu	37	chr17	27233281	27233281	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccaagaccccatcctgcaGcaggctggcatcgcctttgg	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27233281G>T	ENST00000332830.4	-	15	3745	c.2935C>A	c.(2935-2937)Ctg>Atg	p.L979M	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	PHD finger protein 12	979					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCATCCTGCAGCAGGCTGGCA	0.597													False	0	False	17:27233281	0	T	27233281	G	T	27233281	3	4	88	1	0	0	0	0	1	0	0	0	11892	962	34	3	83	3	PHF12	17	27233281	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4671	27233281	53961929	16477	24189											
PHF12	57649	broad.mit.edu	37	chr17	27238239	27238239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctatggataacgtgccGgggctgaccttgccatctgg	12	12	1	1	rs143319936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27238239G>A	ENST00000577226.1	-	10	2452	c.2106C>T	c.(2104-2106)ccC>ccT	p.P702P	PHF12_ENST00000332830.4_Silent_p.P702P|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	702	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATAACGTGCCGGGGCTGACCT	0.557													False	0	True	17:27238239	0	A	27238239	G	A	27238239	2	1	88	1	0	0	0	0	0	0	0	1	11892	1103	39	1		1	PHF12	17	27238239	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4958	27238239	53956971	16478	24190											
SEZ6	124925	broad.mit.edu	37	chr17	27283229	27283229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actctatggtaatgcggttgTaggggcgggggcgggggcgg	22	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27283229T>C	ENST00000317338.12	-	16	3328	c.2900A>G	c.(2899-2901)tAc>tGc	p.Y967C	SEZ6_ENST00000360295.9_Missense_Mutation_p.Y967C|SEZ6_ENST00000335960.6_Silent_p.L499L|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.Y954C			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	967						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AATGCGGTTGTAggggcgggg	0.577													False	0	False	17:27283229	0	C	27283229	T	C	27283229	3	2	88	1	0	0	0	0	1	0	0	0	14223	1638	57	4	105	4	SEZ6	17	27283229	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44990	27283229	53911981	16479	24191											
MYO18A	399687	broad.mit.edu	37	chr17	27421850	27421850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccttctgggtgaaccctgCaatgtccatgtctttttcct	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27421850C>T	ENST00000527372.1	-	30	4708	c.4528G>A	c.(4528-4530)Gca>Aca	p.A1510T	MYO18A_ENST00000354329.4_Missense_Mutation_p.A1510T|MYO18A_ENST00000533112.1_Missense_Mutation_p.A1510T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A1510T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1510					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGAACCCTGCAATGTCCATG	0.552													False	0	False	17:27421850	0	T	27421850	C	T	27421850	3	4	88	1	0	0	0	0	1	0	0	0	10132	710	25	2	1688	2	MYO18A	17	27421850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138621	27421850	53773360	16480	24192											
MYO18A	399687	broad.mit.edu	37	chr17	27423801	27423801	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctgcttcttctccagttCgtggttgcggacctgctggc	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27423801C>T	ENST00000527372.1	-	28	4543	c.4363G>A	c.(4363-4365)Gaa>Aaa	p.E1455K	MYO18A_ENST00000354329.4_Missense_Mutation_p.E1455K|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1455K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1455K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1455					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTCTCCAGTTCGTGGTTGCGG	0.647													False	0	False	17:27423801	0	T	27423801	C	T	27423801	3	4	88	1	0	0	0	0	1	0	0	0	10132	893	31	1	1861	1	MYO18A	17	27423801	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1951	27423801	53771409	16481	24193											
MYO18A	399687	broad.mit.edu	37	chr17	27430619	27430619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtgggacaactcacccGgctcaggcccatgcagcagc	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27430619G>A	ENST00000527372.1	-	21	3685	c.3505C>T	c.(3505-3507)Cgg>Tgg	p.R1169W	MYO18A_ENST00000354329.4_Missense_Mutation_p.R1169W|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1169W|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1169W	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1169	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CAACTCACCCGGCTCAGGCCC	0.647													False	0	True	17:27430619	0	A	27430619	G	A	27430619	3	1	88	1	0	0	0	0	1	0	0	0	10132	1115	39	1	2747	1	MYO18A	17	27430619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6818	27430619	53764591	16482	24194											
MYO18A	399687	broad.mit.edu	37	chr17	27448960	27448960	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggcaagttgagctcctcaGatttgagttgactggctgca	12	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27448960G>T	ENST00000527372.1	-	4	1283	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	MYO18A_ENST00000354329.4_Missense_Mutation_p.S368Y|MYO18A_ENST00000533112.1_Missense_Mutation_p.S368Y|MYO18A_ENST00000531253.1_Missense_Mutation_p.S368Y	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	368					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GAGCTCCTCAGATTTGAGTTG	0.592													False	0	False	17:27448960	0	T	27448960	G	T	27448960	3	4	88	1	0	0	0	0	1	0	0	0	10132	942	33	3	5217	3	MYO18A	17	27448960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18341	27448960	53746250	16483	24195											
MYO18A	399687	broad.mit.edu	37	chr17	27493855	27493855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggctcatctcctccaggCtccgaagctctgccgctgac	10	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27493855C>A	ENST00000527372.1	-	2	284	c.104G>T	c.(103-105)aGc>aTc	p.S35I	MYO18A_ENST00000354329.4_Missense_Mutation_p.S35I|MYO18A_ENST00000533112.1_Missense_Mutation_p.S35I|MYO18A_ENST00000531253.1_Missense_Mutation_p.S35I	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	35					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCCTCCAGGCTCCGAAGCTC	0.537													False	0	False	17:27493855	0	A	27493855	C	A	27493855	3	1	88	1	0	0	0	0	1	0	0	0	10132	797	28	3	6224	3	MYO18A	17	27493855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44895	27493855	53701355	16484	24196											
TAOK1	57551	broad.mit.edu	37	chr17	27816730	27816730	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcaatgagtgccttatAtcacatagcccaaaatgaat	7	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27816730A>G	ENST00000261716.3	+	9	1223	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	TAOK1_ENST00000536202.1_Missense_Mutation_p.Y235C	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	235	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGTGCCTTATATCACATAGCC	0.348													False	0	False	17:27816730	0	G	27816730	A	G	27816730	3	3	88	1	0	0	0	0	1	0	0	0	15629	449	16	4	734	4	TAOK1	17	27816730	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	322875	27816730	53378480	16485	24197											
TAOK1	57551	broad.mit.edu	37	chr17	27849349	27849349	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagcatgccatgctactcCgacagcatgaatctatgcaa	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27849349C>T	ENST00000261716.3	+	17	2479	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	654					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATGCTACTCCGACAGCATGA	0.423													False	0	False	17:27849349	0	T	27849349	C	T	27849349	4	4	88	1	0	0	0	0	0	1	0	0	15629	644	23	1	2022	1	TAOK1	17	27849349	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32619	27849349	53345861	16486	24198											
ABHD15	116236	broad.mit.edu	37	chr17	27889827	27889827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccacagtggcctccgtggcGactgagcaggaggaagaagt	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27889827G>A	ENST00000307201.4	-	2	1329	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	387						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCTCCGTGGCGACTGAGCAGG	0.602													False	0	False	17:27889827	0	A	27889827	G	A	27889827	3	1	88	1	0	0	0	0	1	0	0	0	81	1058	37	1	251	1	ABHD15	17	27889827	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40478	27889827	53305383	16487	24199											
ABHD15	116236	broad.mit.edu	37	chr17	27893616	27893616	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaactgcaggtactcccgGgccagctcaggcccaggcgc	13	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27893616G>T	ENST00000307201.4	-	1	539	c.369C>A	c.(367-369)gcC>gcA	p.A123A	TP53I13_ENST00000584522.1_Intron|RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	123						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGTACTCCCGGGCCAGCTCAG	0.716													False	0	True	17:27893616	0	T	27893616	G	T	27893616	2	4	88	1	0	0	0	0	0	0	0	1	81	1219	43	3		3	ABHD15	17	27893616	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3789	27893616	53301594	16488	24200											
TP53I13	90313	broad.mit.edu	37	chr17	27899263	27899263	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagtggtgccaagaggcggaGgctgcgggctgcccttggtc	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27899263G>T	ENST00000301057.7	+	6	732	c.617G>T	c.(616-618)aGg>aTg	p.R206M	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	206						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		AAGAGGCGGAGGCTGCGGGCT	0.662													False	0	False	17:27899263	0	T	27899263	G	T	27899263	3	4	88	1	0	0	0	0	1	0	0	0	16469	1000	35	3	639	3	TP53I13	17	27899263	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5647	27899263	53295947	16489	24201											
GIT1	28964	broad.mit.edu	37	chr17	27909775	27909775	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagggaagcttgtgcacaaAtgccagcatctggtacttgg	13	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27909775A>C	ENST00000225394.3	-	4	594	c.346T>G	c.(346-348)Ttt>Gtt	p.F116V	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Missense_Mutation_p.F116V|GIT1_ENST00000394869.3_Missense_Mutation_p.F116V|GIT1_ENST00000579937.1_Missense_Mutation_p.F116V	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	116	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TTGTGCACAAATGCCAGCATC	0.587													False	0	True	17:27909775	0	C	27909775	A	C	27909775	3	2	88	1	0	0	0	0	1	0	0	0	6441	101	4	4	2038	4	GIT1	17	27909775	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10512	27909775	53285435	16490	24202											
GIT1	28964	broad.mit.edu	37	chr17	27910532	27910532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaggccaggcgctgtggCgaaggtgcttgacaatggag	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27910532C>T	ENST00000225394.3	-	2	403	c.155G>A	c.(154-156)cGc>cAc	p.R52H	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Missense_Mutation_p.R52H|GIT1_ENST00000394869.3_Missense_Mutation_p.R52H|GIT1_ENST00000579937.1_Missense_Mutation_p.R52H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	52	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGCGCTGTGGCGAAGGTGCTT	0.642													False	0	False	17:27910532	0	T	27910532	C	T	27910532	3	4	88	1	0	0	0	0	1	0	0	0	6441	768	27	1	2237	1	GIT1	17	27910532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	757	27910532	53284678	16491	24203											
ANKRD13B	124930	broad.mit.edu	37	chr17	27939445	27939445	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatcttccacatcctcaaCgcccgcatcaccttcgggaa	6	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27939445C>T	ENST00000394859.3	+	12	1438	c.1284C>T	c.(1282-1284)aaC>aaT	p.N428N	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	428										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						ACATCCTCAACGCCCGCATCA	0.637													False	0	False	17:27939445	0	T	27939445	C	T	27939445	2	4	88	1	0	0	0	0	0	0	0	1	642	535	19	1		1	ANKRD13B	17	27939445	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28913	27939445	53255765	16492	24204											
EFCAB5	374786	broad.mit.edu	37	chr17	28380798	28380798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgcagaacaagggtcacGcagagagtctattgcagaac	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28380798G>A	ENST00000394835.3	+	10	2018	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	EFCAB5_ENST00000536908.2_Missense_Mutation_p.R553H|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R609H|EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609H|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R266H|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609H	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	609							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGGGTCACGCAGAGAGTCT	0.488													False	0	False	17:28380798	0	A	28380798	G	A	28380798	3	1	88	1	0	0	0	0	1	0	0	0	4968	1087	38	1	1864	1	EFCAB5	17	28380798	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	441353	28380798	52814412	16493	24205											
EFCAB5	374786	broad.mit.edu	37	chr17	28380972	28380972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagagcaagaagacaTaggctcaacttcacaatcaa	7	9	4	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28380972T>C	ENST00000394835.3	+	10	2192	c.2000T>C	c.(1999-2001)aTa>aCa	p.I667T	EFCAB5_ENST00000536908.2_Missense_Mutation_p.I611T|EFCAB5_ENST00000394832.2_Missense_Mutation_p.I667T|EFCAB5_ENST00000378738.3_Missense_Mutation_p.I667T|EFCAB5_ENST00000541045.1_Missense_Mutation_p.I324T|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I667T	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	667							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGAAGACATAGGCTCAACT	0.378													False	0	False	17:28380972	0	C	28380972	T	C	28380972	3	2	88	1	0	0	0	0	1	0	0	0	4968	1406	49	4	2038	4	EFCAB5	17	28380972	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	174	28380972	52814238	16494	24206											
EFCAB5	374786	broad.mit.edu	37	chr17	28386587	28386587	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaaatgctttccaagtcCgacagaggcttctcctagaa	8	12	1	2	rs112900293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28386587C>T	ENST00000394835.3	+	14	2797	c.2605C>T	c.(2605-2607)Cga>Tga	p.R869*	AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.R869*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.R869*|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000320856.5_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	869	EF-hand.						calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTTCCAAGTCCGACAGAGGCT	0.418													False	0	False	17:28386587	0	T	28386587	C	T	28386587	4	4	88	1	0	0	0	0	0	1	0	0	4968	644	23	1	2659	1	EFCAB5	17	28386587	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5615	28386587	52808623	16495	24207											
EFCAB5	374786	broad.mit.edu	37	chr17	28386688	28386688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaactcttgtacacatacaaGgagggaatggaaaaagaatc	10	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28386688G>T	ENST00000394835.3	+	14	2898	c.2706G>T	c.(2704-2706)aaG>aaT	p.K902N	AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000394832.2_Missense_Mutation_p.K902N|EFCAB5_ENST00000378738.3_Missense_Mutation_p.K902N|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000320856.5_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	902	EF-hand.						calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACATACAAGGAGGGAATGG	0.388													False	0	False	17:28386688	0	T	28386688	G	T	28386688	3	4	88	1	0	0	0	0	1	0	0	0	4968	991	35	3	2760	3	EFCAB5	17	28386688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101	28386688	52808522	16496	24208											
EFCAB5	374786	broad.mit.edu	37	chr17	28417522	28417522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatatagtagttccacttcGtgagagaacaggagaggctc	12	8	0	3	rs146481233	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28417522G>A	ENST00000394835.3	+	20	3959	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1132H|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1256							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTTCCACTTCGTGAGAGAACA	0.393													False	0	False	17:28417522	0	A	28417522	G	A	28417522	3	1	88	1	0	0	0	0	1	0	0	0	4968	1145	40	1	4012	1	EFCAB5	17	28417522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30834	28417522	52777688	16497	24209											
EFCAB5	374786	broad.mit.edu	37	chr17	28435016	28435016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatatgtatgcaaaaatgCcaggggaaggtttgcaagag	12	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28435016C>T	ENST00000394835.3	+	23	4678	c.4486C>T	c.(4486-4488)Cca>Tca	p.P1496S	EFCAB5_ENST00000394832.2_Missense_Mutation_p.P968S|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P1372S|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1496							calcium ion binding	p.P1496A(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCAAAAATGCCAGGGGAAGG	0.353													False	0	False	17:28435016	0	T	28435016	C	T	28435016	3	4	88	1	0	0	0	0	1	0	0	0	4968	739	26	2	4743	2	EFCAB5	17	28435016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17494	28435016	52760194	16498	24210											
TBC1D29	26083	broad.mit.edu	37	chr17	28890251	28890251	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actggaagagccagacccatTtgtgagagcctccactcctc	9	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28890251T>C	ENST00000584297.1	+	4	361	c.212T>C	c.(211-213)tTt>tCt	p.F71S	TBC1D29_ENST00000579181.1_Silent_p.I87I|TBC1D29_ENST00000580161.1_Silent_p.I87I			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	0						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CCAGACCCATTTGTGAGAGCC	0.622													False	0	True	17:28890251	0	C	28890251	T	C	28890251	3	2	88	1	0	0	0	0	1	0	0	0	15700	1829	64	4	279	4	TBC1D29	17	28890251	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	455235	28890251	52304959	16499	24211											
ATAD5	79915	broad.mit.edu	37	chr17	29162657	29162657	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatatcaaaatagaatgagtTtaagacaaaggaaaacagag	8	3	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29162657T>G	ENST00000321990.4	+	2	1936	c.1558T>G	c.(1558-1560)Tta>Gta	p.L520V	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	520					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGAATGAGTTTAAGACAAAG	0.318													False	0	True	17:29162657	0	G	29162657	T	G	29162657	3	3	88	1	0	0	0	0	1	0	0	0	1080	1838	64	4	1564	4	ATAD5	17	29162657	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	272406	29162657	52032553	16500	24212											
ATAD5	79915	broad.mit.edu	37	chr17	29196541	29196541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgaatgcctcttcccagCgcagtggtagacaaattcta	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29196541C>T	ENST00000321990.4	+	14	3862	c.3484C>T	c.(3484-3486)Cgc>Tgc	p.R1162C		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1162					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTCTTCCCAGCGCAGTGGTAG	0.353													False	0	False	17:29196541	0	T	29196541	C	T	29196541	3	4	88	1	0	0	0	0	1	0	0	0	1080	768	27	1	3538	1	ATAD5	17	29196541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33884	29196541	51998669	16501	24213											
ATAD5	79915	broad.mit.edu	37	chr17	29196652	29196652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttttaatagctactacataGgcaagtcaccaagtaagtaa	6	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29196652G>T	ENST00000321990.4	+	14	3973	c.3595G>T	c.(3595-3597)Ggc>Tgc	p.G1199C		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1199					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTACTACATAGGCAAGTCACC	0.308													False	0	False	17:29196652	0	T	29196652	G	T	29196652	3	4	88	1	0	0	0	0	1	0	0	0	1080	1000	35	3	3649	3	ATAD5	17	29196652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	29196652	51998558	16502	24214											
ADAP2	55803	broad.mit.edu	37	chr17	29250056	29250056	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagagttaaatctgtgCgacttgacttctgggacgac	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29250056C>T	ENST00000330889.3	+	2	528	c.193C>T	c.(193-195)Cga>Tga	p.R65*	ADAP2_ENST00000580525.1_Nonsense_Mutation_p.R65*	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	65	Arf-GAP.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TAAATCTGTGCGACTTGACTT	0.567													False	0	True	17:29250056	0	T	29250056	C	T	29250056	4	4	88	1	0	0	0	0	0	1	0	0	280	760	27	1	199	1	ADAP2	17	29250056	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53404	29250056	51945154	16503	24215											
ADAP2	55803	broad.mit.edu	37	chr17	29284866	29284866	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgcagctgcatcaacagaGagtggccgcagcagcaggtg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29284866G>A	ENST00000330889.3	+	11	1460	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	ADAP2_ENST00000580525.1_Silent_p.E381E	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	375					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CATCAACAGAGAGTGGCCGCA	0.582													False	0	True	17:29284866	0	A	29284866	G	A	29284866	2	1	88	1	0	0	0	0	0	0	0	1	280	933	33	2		2	ADAP2	17	29284866	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34810	29284866	51910344	16504	24216											
NF1	4763	broad.mit.edu	37	chr17	29661957	29661957	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgccaaacgacaaagagttActgctattcttgacaagctg	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661957A>G	ENST00000358273.4	+	40	6297	c.5914A>G	c.(5914-5916)Act>Gct	p.T1972A	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.T1951A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1972					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAAGAGTTACTGCTATTCT	0.378			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			False	0	False	17:29661957	0	G	29661957	A	G	29661957	3	3	88	1	0	0	0	0	1	0	0	0	10424	391	14	4	6133	4	NF1	17	29661957	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	377091	29661957	51533253	16505	24217											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29855524	29855524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaagctgcgacagaaccGccttgagttccagaaggagc	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29855524G>A	ENST00000325874.8	+	12	1686	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R384H	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	486	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CGACAGAACCGCCTTGAGTTC	0.622													False	0	False	17:29855524	0	A	29855524	G	A	29855524	3	1	88	1	0	0	0	0	1	0	0	0	12975	1087	38	1	1503	1	RAB11FIP4	17	29855524	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193567	29855524	51339686	16506	24218											
SUZ12	23512	broad.mit.edu	37	chr17	30322748	30322749	+	Frame_Shift_Ins	INS	-	-	AAATAAATGTT													tagatagtgaagatgaaaagINSgatcctgaatggctaagaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30322748_30322749insAAATAAATGTT	ENST00000322652.5	+	14	1990_1991	c.1761_1762insAAATAAATGTT	c.(1762-1764)gatfs	p.D588fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.D565fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	588	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AAGATGAAAAGGATCCTGAATG	0.327			T	JAZF1	endometrial stromal tumours								False	0	False	17:30322748	0	AAATAAATGTT	30322749	-	AAATAAATGTT	30322748	7	5	88	1	0	1	1	0	0	0	0	0	15498	991	35	0	1815	0	SUZ12	17	30322748	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	467224	30322748	50872462	16507	24219											
LRRC37B	114659	broad.mit.edu	37	chr17	30349743	30349743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatgtgagctctgcacctgCggagatgagactctgtcatg	12	9	3	3	rs146053152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30349743C>T	ENST00000327564.7	+	1	1720	c.1659C>T	c.(1657-1659)tgC>tgT	p.C553C	LRRC37B_ENST00000341671.7_Silent_p.C526C|LRRC37B_ENST00000584368.1_Silent_p.C538C|LRRC37B_ENST00000394713.3_Silent_p.C526C|LRRC37B_ENST00000543378.2_Silent_p.C444C|LRRC37B_ENST00000581786.1_3'UTR			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	526						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCTGCACCTGCGGAGATGAGA	0.532													False	0	False	17:30349743	0	T	30349743	C	T	30349743	2	4	88	1	0	0	0	0	0	0	0	1	9056	776	27	1		1	LRRC37B	17	30349743	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26995	30349743	50845467	16508	24220											
LRRC37B	114659	broad.mit.edu	37	chr17	30361959	30361959	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcaatcctctgactactgtCgaagatccatatctctttga	6	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30361959C>T	ENST00000327564.7	+	6	2149	c.2088C>T	c.(2086-2088)gtC>gtT	p.V696V	LRRC37B_ENST00000341671.7_Silent_p.V669V|LRRC37B_ENST00000584368.1_Silent_p.V630V|LRRC37B_ENST00000394713.3_Silent_p.V618V|LRRC37B_ENST00000543378.2_Silent_p.V587V			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	669						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGACTACTGTCGAAGATCCAT	0.318													False	0	False	17:30361959	0	T	30361959	C	T	30361959	2	4	88	1	0	0	0	0	0	0	0	1	9056	871	31	1		1	LRRC37B	17	30361959	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12216	30361959	50833251	16509	24221											
LRRC37B	114659	broad.mit.edu	37	chr17	30362622	30362622	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catcacacttacaacacttaAgaacattctcacgatgactg	4	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30362622A>C	ENST00000327564.7	+	7	2229	c.2168A>C	c.(2167-2169)aAg>aCg	p.K723T	LRRC37B_ENST00000341671.7_Missense_Mutation_p.K696T|LRRC37B_ENST00000584368.1_Missense_Mutation_p.K657T|LRRC37B_ENST00000394713.3_Missense_Mutation_p.K645T|LRRC37B_ENST00000543378.2_Missense_Mutation_p.K614T			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	696						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACAACACTTAAGAACATTCTC	0.303													False	0	False	17:30362622	0	C	30362622	A	C	30362622	3	2	88	1	0	0	0	0	1	0	0	0	9056	72	3	4	2113	4	LRRC37B	17	30362622	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	663	30362622	50832588	16510	24222											
LRRC37B	114659	broad.mit.edu	37	chr17	30376270	30376270	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgccaagctcatgttgCgaacaggcctcctgatgaag	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30376270C>T	ENST00000327564.7	+	10	2675	c.2614C>T	c.(2614-2616)Cga>Tga	p.R872*	LRRC37B_ENST00000341671.7_Nonsense_Mutation_p.R845*|LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.R806*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.R794*|LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.R763*			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	845						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCTCATGTTGCGAACAGGCCT	0.438													False	0	False	17:30376270	0	T	30376270	C	T	30376270	4	4	88	1	0	0	0	0	0	1	0	0	9056	760	27	1	2571	1	LRRC37B	17	30376270	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13648	30376270	50818940	16511	24223											
RHBDL3	162494	broad.mit.edu	37	chr17	30643294	30643294	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcaagctgctgcggatggCtgtggcccttatctgtagta	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30643294C>A	ENST00000269051.4	+	8	940	c.926C>A	c.(925-927)gCt>gAt	p.A309D	RHBDL3_ENST00000538145.1_Missense_Mutation_p.A301D|RHBDL3_ENST00000536287.1_Missense_Mutation_p.A211D	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	309					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CTGCGGATGGCTGTGGCCCTT	0.552													False	0	False	17:30643294	0	A	30643294	C	A	30643294	3	1	88	1	0	0	0	0	1	0	0	0	13402	797	28	3	956	3	RHBDL3	17	30643294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	267024	30643294	50551916	16512	24224											
C17orf75	64149	broad.mit.edu	37	chr17	30665300	30665300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttacgttcagagtctatcgTtactgtttcaggaagcagtt	10	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30665300T>C	ENST00000577809.1	-	4	467	c.418A>G	c.(418-420)Acg>Gcg	p.T140A	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.T140A	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	140					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGTCTATCGTTACTGTTTCA	0.358													False	0	False	17:30665300	0	C	30665300	T	C	30665300	3	2	88	1	0	0	0	0	1	0	0	0	1893	1725	60	4	800	4	C17orf75	17	30665300	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22006	30665300	50529910	16513	24225											
C17orf75	64149	broad.mit.edu	37	chr17	30666953	30666953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagattagtatctgccaaggAgaggcttgacaaatgaaaga	11	5	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30666953A>G	ENST00000577809.1	-	3	275	c.226T>C	c.(226-228)Tcc>Ccc	p.S76P	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.S76P	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	76					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCTGCCAAGGAGAGGCTTGAC	0.473													False	0	False	17:30666953	0	G	30666953	A	G	30666953	3	3	88	1	0	0	0	0	1	0	0	0	1893	304	11	4	996	4	C17orf75	17	30666953	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1653	30666953	50528257	16514	24226											
ZNF207	7756	broad.mit.edu	37	chr17	30696771	30696771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtaatgtcgcaaggtggccGttactgatcttacttcatcc	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30696771G>A	ENST00000394670.4	+	12	1647	c.1478G>A	c.(1477-1479)cGt>cAt	p.R493H	ZNF207_ENST00000577908.1_Intron|ZNF207_ENST00000342555.6_Missense_Mutation_p.R496H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R462H|ZNF207_ENST00000321233.6_Missense_Mutation_p.R477H|ZNF207_ENST00000341711.6_Missense_Mutation_p.R394H	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	477						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R477L(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CAAGGTGGCCGTTACTGATCT	0.507													False	0	False	17:30696771	0	A	30696771	G	A	30696771	3	1	88	1	0	0	0	0	1	0	0	0	17848	1145	40	1	1524	1	ZNF207	17	30696771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29818	30696771	50498439	16515	24227											
PSMD11	5717	broad.mit.edu	37	chr17	30796059	30796059	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaagatggacgacaaagCtcttttggtggaagtacagc	12	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30796059C>A	ENST00000261712.3	+	6	754	c.491C>A	c.(490-492)gCt>gAt	p.A164D	PSMD11_ENST00000457654.2_Missense_Mutation_p.A164D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	164					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GACGACAAAGCTCTTTTGGTG	0.448													False	0	False	17:30796059	0	A	30796059	C	A	30796059	3	1	88	1	0	0	0	0	1	0	0	0	12770	797	28	3	513	3	PSMD11	17	30796059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99288	30796059	50399151	16516	24228											
CDK5R1	8851	broad.mit.edu	37	chr17	30815096	30815096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaccagtgagctgcttcGctgcctgggtgagtttctct	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30815096G>A	ENST00000313401.3	+	2	1147	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	153					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GAGCTGCTTCGCTGCCTGGGT	0.677													False	0	False	17:30815096	0	A	30815096	G	A	30815096	3	1	88	1	0	0	0	0	1	0	0	0	3166	1087	38	1	460	1	CDK5R1	17	30815096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19037	30815096	50380114	16517	24229											
MYO1D	4642	broad.mit.edu	37	chr17	30980908	30980908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcatgtatttgtccttccGtttcaattcattagcaacag	5	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30980908G>A	ENST00000318217.5	-	19	2852	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W	MYO1D_ENST00000394649.4_Missense_Mutation_p.R762W|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Missense_Mutation_p.R850W	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	850						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTGTCCTTCCGTTTCAATTCA	0.413													False	0	True	17:30980908	0	A	30980908	G	A	30980908	3	1	88	1	0	0	0	0	1	0	0	0	10138	1144	40	1	488	1	MYO1D	17	30980908	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165812	30980908	50214302	16518	24230											
TMEM98	26022	broad.mit.edu	37	chr17	31263420	31263420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaagatgaagacttcagCcagtgtcagcgacatcattg	11	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31263420C>T	ENST00000579849.1	+	6	799	c.368C>T	c.(367-369)gCc>gTc	p.A123V	TMEM98_ENST00000394642.3_Missense_Mutation_p.A123V|TMEM98_ENST00000578289.1_Missense_Mutation_p.A123V	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	123						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			AAGACTTCAGCCAGTGTCAGC	0.572													False	0	False	17:31263420	0	T	31263420	C	T	31263420	3	4	88	1	0	0	0	0	1	0	0	0	16307	739	26	2	382	2	TMEM98	17	31263420	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	282512	31263420	49931790	16519	24231											
TMEM98	26022	broad.mit.edu	37	chr17	31266550	31266550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccccaaactcctggacGcacggtgagaccaggggtgg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31266550G>A	ENST00000579849.1	+	7	900	c.469G>A	c.(469-471)Gca>Aca	p.A157T	TMEM98_ENST00000394642.3_Missense_Mutation_p.A157T|TMEM98_ENST00000578289.1_Intron	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	157						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			ACTCCTGGACGCACGGTGAGA	0.532													False	0	False	17:31266550	0	A	31266550	G	A	31266550	3	1	88	1	0	0	0	0	1	0	0	0	16307	1087	38	1	487	1	TMEM98	17	31266550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3130	31266550	49928660	16520	24232											
SPACA3	124912	broad.mit.edu	37	chr17	31322708	31322708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatgacttcgggctggacGgataccggggatacagcctg	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31322708G>A	ENST00000580599.1	+	3	518	c.109G>A	c.(109-111)Gga>Aga	p.G37R	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Missense_Mutation_p.G106R			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	106					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CGGGCTGGACGGATACCGGGG	0.622													False	0	False	17:31322708	0	A	31322708	G	A	31322708	3	1	88	1	0	0	0	0	1	0	0	0	15053	1117	39	1	322	1	SPACA3	17	31322708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56158	31322708	49872502	16521	24233											
CCL1	6346	broad.mit.edu	37	chr17	32687649	32687649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatccaactgtgtccaaggCgcaggcctctttgcctctct	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32687649C>T	ENST00000225842.3	-	3	289	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	74					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGTCCAAGGCGCAGGCCTCT	0.522													False	0	False	17:32687649	0	T	32687649	C	T	32687649	3	4	88	1	0	0	0	0	1	0	0	0	2903	768	27	1	74	1	CCL1	17	32687649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1364941	32687649	48507561	16522	24234											
CCL1	6346	broad.mit.edu	37	chr17	32690113	32690113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccacactcactgctcttgCtgtccacatcttccggccac	6	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32690113C>A	ENST00000225842.3	-	1	137	c.68G>T	c.(67-69)aGc>aTc	p.S23I		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	23					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGCTCTTGCTGTCCACATC	0.572													False	0	False	17:32690113	0	A	32690113	C	A	32690113	3	1	88	1	0	0	0	0	1	0	0	0	2903	797	28	3	234	3	CCL1	17	32690113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2464	32690113	48505097	16523	24235											
C17orf102	400591	broad.mit.edu	37	chr17	32906007	32906007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgagccccagagcccCcgcggcccgagaggagctgg	16	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32906007C>T	ENST00000357754.1	-	1	381	c.293G>A	c.(292-294)gGg>gAg	p.G98E		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	98			G -> R (in dbSNP:rs58529418).							central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						CCCAGAGCCCCCGCGGCCCGA	0.672													False	0	True	17:32906007	0	T	32906007	C	T	32906007	3	4	88	1	0	0	0	0	1	0	0	0	1859	623	22	2	218	2	C17orf102	17	32906007	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	215894	32906007	48289203	16524	24236											
TMEM132E	124842	broad.mit.edu	37	chr17	32956037	32956037	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctaccctggcagggagggCcagggccccttggagatctt	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32956037C>T	ENST00000321639.5	+	5	1210	c.882C>T	c.(880-882)ggC>ggT	p.G294G		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	294						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCAGGGAGGGCCAGGGCCCCT	0.612													False	0	True	17:32956037	0	T	32956037	C	T	32956037	2	4	88	1	0	0	0	0	0	0	0	1	16130	726	26	2		2	TMEM132E	17	32956037	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50030	32956037	48239173	16525	24237											
TMEM132E	124842	broad.mit.edu	37	chr17	32965106	32965106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgccgtcagaggagctggCctatgactcggtgcccgcgg	16	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32965106C>T	ENST00000321639.5	+	10	3138	c.2810C>T	c.(2809-2811)gCc>gTc	p.A937V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	937						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GAGGAGCTGGCCTATGACTCG	0.697													False	0	False	17:32965106	0	T	32965106	C	T	32965106	3	4	88	1	0	0	0	0	1	0	0	0	16130	739	26	2	2848	2	TMEM132E	17	32965106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9069	32965106	48230104	16526	24238											
RFFL	117584	broad.mit.edu	37	chr17	33348430	33348430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgggggaacagaggtgGcttgtgcagatgaagagggg	22	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33348430G>A	ENST00000315249.7	-	3	773	c.551C>T	c.(550-552)gCc>gTc	p.A184V	RFFL_ENST00000415395.2_Missense_Mutation_p.A184V|RFFL_ENST00000268850.7_Missense_Mutation_p.A184V|RFFL_ENST00000394597.2_Missense_Mutation_p.A184V|RFFL_ENST00000378516.2_Missense_Mutation_p.A184V|RFFL_ENST00000447669.2_Missense_Mutation_p.A184V|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000584655.1_Missense_Mutation_p.A184V|RFFL_ENST00000413582.2_Missense_Mutation_p.A184V			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	184					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACAGAGGTGGCTTGTGCAGA	0.552													False	0	False	17:33348430	0	A	33348430	G	A	33348430	3	1	88	1	0	0	0	0	1	0	0	0	13329	1203	42	2	560	2	RFFL	17	33348430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383324	33348430	47846780	16527	24239											
RFFL	117584	broad.mit.edu	37	chr17	33348547	33348547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaggtggaggcacgagtcCtgtcctcctgggagattaca	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33348547C>T	ENST00000315249.7	-	3	656	c.434G>A	c.(433-435)aGg>aAg	p.R145K	RFFL_ENST00000415395.2_Missense_Mutation_p.R145K|RFFL_ENST00000268850.7_Missense_Mutation_p.R145K|RFFL_ENST00000394597.2_Missense_Mutation_p.R145K|RFFL_ENST00000378516.2_Missense_Mutation_p.R145K|RFFL_ENST00000447669.2_Missense_Mutation_p.R145K|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000584655.1_Missense_Mutation_p.R145K|RFFL_ENST00000413582.2_Missense_Mutation_p.R145K			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	145					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGCACGAGTCCTGTCCTCCTG	0.582													False	0	True	17:33348547	0	T	33348547	C	T	33348547	3	4	88	1	0	0	0	0	1	0	0	0	13329	681	24	2	677	2	RFFL	17	33348547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117	33348547	47846663	16528	24240											
FNDC8	54752	broad.mit.edu	37	chr17	33454299	33454299	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcgaagtcccagatggccAcaaggggcctgctggacctt	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33454299A>G	ENST00000158009.5	+	2	563	c.448A>G	c.(448-450)Aca>Gca	p.T150A		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	150										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CCAGATGGCCACAAGGGGCCT	0.582													False	0	False	17:33454299	0	G	33454299	A	G	33454299	3	3	88	1	0	0	0	0	1	0	0	0	6014	159	6	4	454	4	FNDC8	17	33454299	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105752	33454299	47740911	16529	24241											
NLE1	54475	broad.mit.edu	37	chr17	33463193	33463193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcacacactcacccgcaCgaggttgtatcggctcagag	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33463193C>T	ENST00000586869.1	-	8	1149	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	NLE1_ENST00000442241.4_Missense_Mutation_p.V336M|NLE1_ENST00000360831.5_Missense_Mutation_p.V294M			Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	336						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CTCACCCGCACGAGGTTGTAT	0.552													False	0	False	17:33463193	0	T	33463193	C	T	33463193	3	4	88	1	0	0	0	0	1	0	0	0	10528	536	19	1	471	1	NLE1	17	33463193	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8894	33463193	47732017	16530	24242											
NLE1	54475	broad.mit.edu	37	chr17	33464116	33464116	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggtgaccgactgggtgtgCccggtgaggatgcgctcaca	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33464116C>A	ENST00000442241.4	-	7	771	c.732G>T	c.(730-732)ggG>ggT	p.G244G	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000360831.5_Silent_p.G202G	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	244						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				ACTGGGTGTGCCCGGTGAGGA	0.627													False	0	True	17:33464116	0	A	33464116	C	A	33464116	2	1	88	1	0	0	0	0	0	0	0	1	10528	726	26	3		3	NLE1	17	33464116	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	923	33464116	47731094	16531	24243											
NLE1	54475	broad.mit.edu	37	chr17	33467027	33467027	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgggactccaacgtcttcCccagtgaggagacgatctca	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33467027C>A	ENST00000442241.4	-	3	260	c.221G>T	c.(220-222)gGg>gTg	p.G74V	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.G74V	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	74						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CAACGTCTTCCCCAGTGAGGA	0.547													False	0	True	17:33467027	0	A	33467027	C	A	33467027	3	1	88	1	0	0	0	0	1	0	0	0	10528	623	22	3	1280	3	NLE1	17	33467027	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2911	33467027	47728183	16532	24244											
UNC45B	146862	broad.mit.edu	37	chr17	33495095	33495095	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaggggcaagtttgacccCcaggacatggacaagaactt	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33495095C>A	ENST00000268876.5	+	10	1264	c.1167C>A	c.(1165-1167)ccC>ccA	p.P389P	UNC45B_ENST00000433649.1_Silent_p.P389P|UNC45B_ENST00000394570.2_Silent_p.P389P|UNC45B_ENST00000591048.1_Silent_p.P389P|UNC45B_ENST00000378449.1_Silent_p.P389P	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	389					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGTTTGACCCCCAGGACATGG	0.517													False	0	True	17:33495095	0	A	33495095	C	A	33495095	2	1	88	1	0	0	0	0	0	0	0	1	17073	610	22	3		3	UNC45B	17	33495095	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28068	33495095	47700115	16533	24245											
UNC45B	146862	broad.mit.edu	37	chr17	33495173	33495173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctttgacctgggcaaccaGctgctgggactgaaaggtgt	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33495173G>T	ENST00000268876.5	+	10	1342	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H	UNC45B_ENST00000433649.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000394570.2_Missense_Mutation_p.Q415H|UNC45B_ENST00000591048.1_Missense_Mutation_p.Q415H|UNC45B_ENST00000378449.1_Missense_Mutation_p.Q415H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	415					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGGCAACCAGCTGCTGGGAC	0.582													False	0	False	17:33495173	0	T	33495173	G	T	33495173	3	4	88	1	0	0	0	0	1	0	0	0	17073	962	34	3	1279	3	UNC45B	17	33495173	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78	33495173	47700037	16534	24246											
SLFN5	162394	broad.mit.edu	37	chr17	33591403	33591403	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttctaatttcccagaAcaacacccctattctctaca	2	15	3	1	rs138507199	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33591403A>C	ENST00000299977.4	+	4	1488	c.1340A>C	c.(1339-1341)aAc>aCc	p.N447T	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	447					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATTTCCCAGAACAACACCCCT	0.448													False	0	False	17:33591403	0	C	33591403	A	C	33591403	3	2	88	1	0	0	0	0	1	0	0	0	14817	43	2	4	1350	4	SLFN5	17	33591403	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	96230	33591403	47603807	16535	24247											
SLFN5	162394	broad.mit.edu	37	chr17	33592666	33592666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcttctaacagcaatgaGgaagagaaaactgtctcagc	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33592666G>T	ENST00000299977.4	+	5	2583	c.2435G>T	c.(2434-2436)aGg>aTg	p.R812M	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	812					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAGCAATGAGGAAGAGAAAA	0.433													False	0	False	17:33592666	0	T	33592666	G	T	33592666	3	4	88	1	0	0	0	0	1	0	0	0	14817	1000	35	3	2449	3	SLFN5	17	33592666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1263	33592666	47602544	16536	24248											
SLFN12L	100506736	broad.mit.edu	37	chr17	33806674	33806674	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttgtacatcaacacaGgccctttttgcagggaattc	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33806674G>T	ENST00000260908.7	-	2	672	c.555C>A	c.(553-555)gcC>gcA	p.A185A	SLFN12L_ENST00000361112.4_Silent_p.A214A|SLFN12L_ENST00000449046.1_Silent_p.A216A	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	217						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CATCAACACAGGCCCTTTTTG	0.388													False	0	False	17:33806674	0	T	33806674	G	T	33806674	2	4	88	1	0	0	0	0	0	0	0	1	14815	987	35	3		3	SLFN12L	17	33806674	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	214008	33806674	47388536	16537	24249											
PEX12	5193	broad.mit.edu	37	chr17	33904391	33904391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaccaggaacataatagAtttccaaagctgctgctttg	8	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33904391A>G	ENST00000225873.4	-	2	953	c.346T>C	c.(346-348)Tct>Cct	p.S116P		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	116					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACATAATAGATTTCCAAAGC	0.433													False	0	True	17:33904391	0	G	33904391	A	G	33904391	3	3	88	1	0	0	0	0	1	0	0	0	11809	333	12	4	741	4	PEX12	17	33904391	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	97717	33904391	47290819	16538	24250											
AP2B1	163	broad.mit.edu	37	chr17	34001297	34001297	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaacttcaccaataaagctCtgcagcacatgacagatttt	6	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34001297C>T	ENST00000262325.7	+	16	2792	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	AP2B1_ENST00000538556.1_Silent_p.L690L|AP2B1_ENST00000592545.1_Silent_p.L723L|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Silent_p.L761L|AP2B1_ENST00000312678.8_Silent_p.L761L|AP2B1_ENST00000537622.2_Silent_p.L761L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	747					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CAATAAAGCTCTGCAGCACAT	0.433													False	0	False	17:34001297	0	T	34001297	C	T	34001297	2	4	88	1	0	0	0	0	0	0	0	1	743	912	32	2		2	AP2B1	17	34001297	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96906	34001297	47193913	16539	24251											
AP2B1	163	broad.mit.edu	37	chr17	34044364	34044364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagccaggaaaccccaattAcacggtaaggcctttctcag	8	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34044364A>G	ENST00000262325.7	+	20	3288	c.2735A>G	c.(2734-2736)tAc>tGc	p.Y912C	AP2B1_ENST00000538556.1_Missense_Mutation_p.Y855C|AP2B1_ENST00000592545.1_Missense_Mutation_p.Y888C|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.Y926C|AP2B1_ENST00000312678.8_Missense_Mutation_p.Y926C|AP2B1_ENST00000537622.2_Missense_Mutation_p.Y926C	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	912	Interaction with ARRB1.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACCCCAATTACACGGTAAGG	0.498													False	0	False	17:34044364	0	G	34044364	A	G	34044364	3	3	88	1	0	0	0	0	1	0	0	0	743	391	14	4	2855	4	AP2B1	17	34044364	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43067	34044364	47150846	16540	24252											
GAS2L2	246176	broad.mit.edu	37	chr17	34073243	34073243	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcggttccccagctgtctgTttcttcatgaacccaagatg	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34073243T>A	ENST00000254466.6	-	6	1300	c.1273A>T	c.(1273-1275)Aca>Tca	p.T425S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.T409S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	425					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGCTGTCTGTTTCTTCATGA	0.582													False	0	True	17:34073243	0	A	34073243	T	A	34073243	3	1	88	1	0	0	0	0	1	0	0	0	6290	1725	60	5	1373	5	GAS2L2	17	34073243	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28879	34073243	47121967	16541	24253											
TAF15	8148	broad.mit.edu	37	chr17	34147406	34147406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccagcaaccatataataaCcagggacagcagcaaaacat	7	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34147406C>T	ENST00000588240.1	+	5	370	c.255C>T	c.(253-255)aaC>aaT	p.N85N	AC015849.19_ENST00000588415.1_RNA|TAF15_ENST00000311979.3_Silent_p.N82N|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000592237.1_5'UTR	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	85	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CATATAATAACCAGGGACAGC	0.358			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								False	0	False	17:34147406	0	T	34147406	C	T	34147406	2	4	88	1	0	0	0	0	0	0	0	1	15600	506	18	2		2	TAF15	17	34147406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74163	34147406	47047804	16542	24254											
TAF15	8148	broad.mit.edu	37	chr17	34171486	34171486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttctaccttgcagatttcCgggggagaggctacggtgga	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34171486C>T	ENST00000588240.1	+	15	1298	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	TAF15_ENST00000311979.3_Missense_Mutation_p.R392W|TAF15_ENST00000592237.1_Missense_Mutation_p.R304W	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	395	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGCAGATTTCCGGGGGAGAGG	0.542			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								False	0	True	17:34171486	0	T	34171486	C	T	34171486	3	4	88	1	0	0	0	0	1	0	0	0	15600	643	23	1	1241	1	TAF15	17	34171486	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24080	34171486	47023724	16543	24255											
TAF15	8148	broad.mit.edu	37	chr17	34171925	34171925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtggtggcagtggctAcggtggagaccgaagtggag	20	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34171925A>G	ENST00000588240.1	+	15	1737	c.1622A>G	c.(1621-1623)tAc>tGc	p.Y541C	TAF15_ENST00000311979.3_Missense_Mutation_p.Y538C|TAF15_ENST00000592237.1_Missense_Mutation_p.T346A	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	541	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGCAGTGGCTACGGTGGAGAC	0.622			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								False	0	False	17:34171925	0	G	34171925	A	G	34171925	3	3	88	1	0	0	0	0	1	0	0	0	15600	391	14	4	1680	4	TAF15	17	34171925	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	439	34171925	47023285	16544	24256											
CCL16	6360	broad.mit.edu	37	chr17	34308401	34308401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggctggctgcgagaagccGaagtaatgataaggatgagg	16	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34308401G>A	ENST00000293275.3	-	1	131	c.56C>T	c.(55-57)tCg>tTg	p.S19L		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	19					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCGAGAAGCCGAAGTAATGAT	0.572													False	0	False	17:34308401	0	A	34308401	G	A	34308401	3	1	88	1	0	0	0	0	1	0	0	0	2908	1059	37	1	318	1	CCL16	17	34308401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136476	34308401	46886809	16545	24257											
CCL3	6348	broad.mit.edu	37	chr17	34416585	34416585	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagtagtcagctatgaaattCtgtggaatctgccgggaggt	13	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34416585C>A	ENST00000225245.5	-	2	214	c.132G>T	c.(130-132)caG>caT	p.Q44H	AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000441575.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	44					cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTATGAAATTCTGTGGAATCT	0.552													False	0	False	17:34416585	0	A	34416585	C	A	34416585	3	1	88	1	0	0	0	0	1	0	0	0	2922	912	32	3	154	3	CCL3	17	34416585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108184	34416585	46778625	16546	24258											
ZNHIT3	9326	broad.mit.edu	37	chr17	34849821	34849821	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tagtgatgaggaagaagacaGagtttctttgcagaatttaa	11	3	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34849821G>A	ENST00000225410.4	+	4	322	c.257G>A	c.(256-258)aGa>aAa	p.R86K	ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000592616.1_Missense_Mutation_p.R86K|ZNHIT3_ENST00000588253.1_5'UTR	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	86					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		GAAGAAGACAGAGTTTCTTTG	0.353													False	0	False	17:34849821	0	A	34849821	G	A	34849821	3	1	88	1	0	0	0	0	1	0	0	0	18290	942	33	2	271	2	ZNHIT3	17	34849821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	433236	34849821	46345389	16547	24259											
MYO19	80179	broad.mit.edu	37	chr17	34859841	34859841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctccacgaggccacagGcctccagctggctcaggacc	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34859841G>A	ENST00000431794.3	-	20	2447	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	MYO19_ENST00000268852.9_Missense_Mutation_p.A442V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	642	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGGCCACAGGCCTCCAGCTG	0.632													False	0	False	17:34859841	0	A	34859841	G	A	34859841	3	1	88	1	0	0	0	0	1	0	0	0	10134	1203	42	2	1015	2	MYO19	17	34859841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10020	34859841	46335369	16548	24260											
PIGW	284098	broad.mit.edu	37	chr17	34893890	34893890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctaccctggggtatgtgGcaatacacatggctggtgtg	13	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34893890G>A	ENST00000592983.1	+	2	1520	c.940G>A	c.(940-942)Gca>Aca	p.A314T	PIGW_ENST00000328396.2_Missense_Mutation_p.A314T|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	314					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGTATGTGGCAATACACAT	0.423													False	0	False	17:34893890	0	A	34893890	G	A	34893890	3	1	88	1	0	0	0	0	1	0	0	0	11971	1203	42	2	942	2	PIGW	17	34893890	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34049	34893890	46301320	16549	24261											
PIGW	284098	broad.mit.edu	37	chr17	34894032	34894032	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacgtagttcaagtaaatgTagaagcagtatctcgaagaa	9	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34894032T>C	ENST00000592983.1	+	2	1662	c.1082T>C	c.(1081-1083)gTa>gCa	p.V361A	PIGW_ENST00000328396.2_Missense_Mutation_p.V361A|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	361					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAAGTAAATGTAGAAGCAGTA	0.348													False	0	False	17:34894032	0	C	34894032	T	C	34894032	3	2	88	1	0	0	0	0	1	0	0	0	11971	1638	57	4	1084	4	PIGW	17	34894032	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	142	34894032	46301178	16550	24262											
MRM1	79922	broad.mit.edu	37	chr17	34958504	34958504	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggggaagcgggccgagctgCtccggatggccgaggcgcgg	21	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34958504C>A	ENST00000250156.7	+	1	504	c.265C>A	c.(265-267)Ctc>Atc	p.L89I	MRM1_ENST00000585770.1_5'UTR	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	89					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GGCCGAGCTGCTCCGGATGGC	0.687													False	0	False	17:34958504	0	A	34958504	C	A	34958504	3	1	88	1	0	0	0	0	1	0	0	0	9838	797	28	3	267	3	MRM1	17	34958504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64472	34958504	46236706	16551	24263											
LHX1	3975	broad.mit.edu	37	chr17	35297966	35297966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacccgtcgcaggacgacGccaaggactcggagagcgcc	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35297966G>A	ENST00000254457.5	+	3	1868	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	153					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCAGGACGACGCCAAGGACTC	0.652													False	0	False	17:35297966	0	A	35297966	G	A	35297966	3	1	88	1	0	0	0	0	1	0	0	0	8822	1087	38	1	467	1	LHX1	17	35297966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	339462	35297966	45897244	16552	24264											
LHX1	3975	broad.mit.edu	37	chr17	35298099	35298099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagctggagacgctgaaggCcgccttcgctgctacaccca	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35298099C>T	ENST00000254457.5	+	3	2001	c.590C>T	c.(589-591)gCc>gTc	p.A197V	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	197					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACGCTGAAGGCCGCCTTCGCT	0.667													False	0	False	17:35298099	0	T	35298099	C	T	35298099	3	4	88	1	0	0	0	0	1	0	0	0	8822	739	26	2	600	2	LHX1	17	35298099	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133	35298099	45897111	16553	24265											
ACACA	31	broad.mit.edu	37	chr17	35446008	35446008	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tattattgtcccaaacataaGcctgcaaacagatgactctt	5	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35446008G>T	ENST00000353139.5	-	55	7374	c.6893C>A	c.(6892-6894)gCt>gAt	p.A2298D	ACACA_ENST00000335166.5_Splice_Site_p.A2183D|ACACA_ENST00000361253.5_Splice_Site_p.A387D|ACACA_ENST00000394406.2_Splice_Site_p.A2261D|ACACA_ENST00000360679.3_Splice_Site_p.A2203D	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2261					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCAAACATAAGCCTGCAAACA	0.493													False	0	False	17:35446008	0	T	35446008	G	T	35446008	5	4	88	1	0	0	0	0	0	0	1	0	106	985	34	3	266	3	ACACA	17	35446008	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	147909	35446008	45749202	16554	24266											
ACACA	31	broad.mit.edu	37	chr17	35454098	35454098	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttttccaatccaggaTatcctacatgcagagaagaa	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35454098T>C	ENST00000353139.5	-	54	7205	c.6724A>G	c.(6724-6726)Atc>Gtc	p.I2242V	ACACA_ENST00000335166.5_Missense_Mutation_p.I2127V|ACACA_ENST00000361253.5_Missense_Mutation_p.I331V|ACACA_ENST00000394406.2_Missense_Mutation_p.I2205V|ACACA_ENST00000360679.3_Missense_Mutation_p.I2147V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2205					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAATCCAGGATATCCTACATG	0.483													False	0	False	17:35454098	0	C	35454098	T	C	35454098	3	2	88	1	0	0	0	0	1	0	0	0	106	1406	49	4	439	4	ACACA	17	35454098	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8090	35454098	45741112	16555	24267											
ACACA	31	broad.mit.edu	37	chr17	35486405	35486405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagaggaactgaactgtGcacgctctaaaaggagattg	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35486405G>A	ENST00000353139.5	-	47	6311	c.5830C>T	c.(5830-5832)Cac>Tac	p.H1944Y	ACACA_ENST00000335166.5_Missense_Mutation_p.H1829Y|ACACA_ENST00000361253.5_Missense_Mutation_p.H33Y|ACACA_ENST00000394406.2_Missense_Mutation_p.H1907Y|ACACA_ENST00000360679.3_Missense_Mutation_p.H1849Y	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1907	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACTGAACTGTGCACGCTCTAA	0.478													False	0	False	17:35486405	0	A	35486405	G	A	35486405	3	1	88	1	0	0	0	0	1	0	0	0	106	1319	46	2	1361	2	ACACA	17	35486405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32307	35486405	45708805	16556	24268											
ACACA	31	broad.mit.edu	37	chr17	35549147	35549147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgcatcttgtgattagCacatggaatggcagtgaggt	14	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35549147C>T	ENST00000353139.5	-	37	4781	c.4300G>A	c.(4300-4302)Gct>Act	p.A1434T	ACACA_ENST00000335166.5_Missense_Mutation_p.A1319T|ACACA_ENST00000394406.2_Missense_Mutation_p.A1397T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1339T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1397					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTGTGATTAGCACATGGAATG	0.493													False	0	False	17:35549147	0	T	35549147	C	T	35549147	3	4	88	1	0	0	0	0	1	0	0	0	106	710	25	2	2931	2	ACACA	17	35549147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62742	35549147	45646063	16557	24269											
TADA2A	6871	broad.mit.edu	37	chr17	35837053	35837053	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacccggaaaatctatgattTcctcatcagagaaggataca	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35837053T>A	ENST00000394395.2	+	16	1471	c.1298T>A	c.(1297-1299)tTc>tAc	p.F433Y	TADA2A_ENST00000225396.6_Missense_Mutation_p.F433Y	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	433	SWIRM.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATCTATGATTTCCTCATCAGA	0.443													False	0	True	17:35837053	0	A	35837053	T	A	35837053	3	1	88	1	0	0	0	0	1	0	0	0	15592	1783	62	5	1451	5	TADA2A	17	35837053	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	287906	35837053	45358157	16558	24270											
DUSP14	11072	broad.mit.edu	37	chr17	35872880	35872880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgccagctctttgggaagtCgacagttaaaatggtacaga	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35872880C>T	ENST00000487847.1	+	2	1484	c.506C>T	c.(505-507)tCg>tTg	p.S169L	DUSP14_ENST00000394389.4_Missense_Mutation_p.S169L|DUSP14_ENST00000394386.1_Missense_Mutation_p.S169L			O95147	DUS14_HUMAN	dual specificity phosphatase 14	169							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				TTTGGGAAGTCGACAGTTAAA	0.537													False	0	False	17:35872880	0	T	35872880	C	T	35872880	3	4	88	1	0	0	0	0	1	0	0	0	4844	893	31	1	508	1	DUSP14	17	35872880	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35827	35872880	45322330	16559	24271											
SYNRG	11276	broad.mit.edu	37	chr17	35896132	35896132	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggttattccatactttatcGatgtccttcagcaactgctg	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35896132G>A	ENST00000339208.6	-	19	3755	c.3615C>T	c.(3613-3615)atC>atT	p.I1205I	SYNRG_ENST00000394378.2_Silent_p.I1127I|SYNRG_ENST00000502449.2_Silent_p.I1082I|SYNRG_ENST00000591288.1_Silent_p.I999I|SYNRG_ENST00000585472.1_Silent_p.I1126I|SYNRG_ENST00000346661.4_Silent_p.I1205I|SYNRG_ENST00000345615.4_Silent_p.I1127I	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1205					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATACTTTATCGATGTCCTTCA	0.478													False	0	False	17:35896132	0	A	35896132	G	A	35896132	2	1	88	1	0	0	0	0	0	0	0	1	15542	1048	37	1		1	SYNRG	17	35896132	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23252	35896132	45299078	16560	24272											
SYNRG	11276	broad.mit.edu	37	chr17	35913384	35913384	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccaccaatggaagggagaTctaaggacttcactgatgca	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35913384T>C	ENST00000339208.6	-	14	2581	c.2441A>G	c.(2440-2442)gAt>gGt	p.D814G	SYNRG_ENST00000394378.2_Missense_Mutation_p.D736G|SYNRG_ENST00000502449.2_Missense_Mutation_p.D736G|SYNRG_ENST00000591288.1_Missense_Mutation_p.D653G|SYNRG_ENST00000585472.1_Missense_Mutation_p.D735G|SYNRG_ENST00000346661.4_Missense_Mutation_p.D814G|SYNRG_ENST00000345615.4_Missense_Mutation_p.D736G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	814					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGAAGGGAGATCTAAGGACTT	0.463													False	0	False	17:35913384	0	C	35913384	T	C	35913384	3	2	88	1	0	0	0	0	1	0	0	0	15542	1435	50	4	1612	4	SYNRG	17	35913384	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17252	35913384	45281826	16561	24273											
SYNRG	11276	broad.mit.edu	37	chr17	35914119	35914119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttttaaaatcggtgaaaCcatcatcagttcctgcagat	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35914119C>T	ENST00000339208.6	-	14	1846	c.1706G>A	c.(1705-1707)gGt>gAt	p.G569D	SYNRG_ENST00000394378.2_Missense_Mutation_p.G491D|SYNRG_ENST00000502449.2_Missense_Mutation_p.G491D|SYNRG_ENST00000591288.1_Missense_Mutation_p.G408D|SYNRG_ENST00000585472.1_Missense_Mutation_p.G490D|SYNRG_ENST00000346661.4_Missense_Mutation_p.G569D|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000345615.4_Missense_Mutation_p.G491D	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	569	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCGGTGAAACCATCATCAGT	0.398													False	0	True	17:35914119	0	T	35914119	C	T	35914119	3	4	88	1	0	0	0	0	1	0	0	0	15542	507	18	2	2347	2	SYNRG	17	35914119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	735	35914119	45281091	16562	24274											
GPR179	440435	broad.mit.edu	37	chr17	36484336	36484336	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccagcacccacctcccaggGacagatttctgccttcccag	7	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36484336G>T	ENST00000342292.4	-	11	5136	c.5116C>A	c.(5116-5118)Ccc>Acc	p.P1706T	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1706						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCTCCCAGGGACAGATTTCT	0.532													False	0	True	17:36484336	0	T	36484336	G	T	36484336	3	4	88	1	0	0	0	0	1	0	0	0	6720	1174	41	3	1991	3	GPR179	17	36484336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	570217	36484336	44710874	16563	24275											
SRCIN1	80725	broad.mit.edu	37	chr17	36700182	36700182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggagtcaccaccttcatgGgtggtacactgcctccgcca	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36700182G>A	ENST00000264659.7	-	18	3517	c.3293C>T	c.(3292-3294)cCc>cTc	p.P1098L	SRCIN1_ENST00000578925.1_Missense_Mutation_p.P1132L|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	970					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CACCTTCATGGGTGGTACACT	0.632													False	0	True	17:36700182	0	A	36700182	G	A	36700182	3	1	88	1	0	0	0	0	1	0	0	0	15218	1232	43	2	266	2	SRCIN1	17	36700182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215846	36700182	44495028	16564	24276											
PIP4K2B	8396	broad.mit.edu	37	chr17	36926743	36926743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctttgtatcgtatggCgtgaggatatcaatgatggc	11	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36926743C>T	ENST00000269554.3	-	9	1596	c.1116G>A	c.(1114-1116)acG>acA	p.T372T		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	372	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TATCGTATGGCGTGAGGATAT	0.547													False	0	False	17:36926743	0	T	36926743	C	T	36926743	2	4	88	1	0	0	0	0	0	0	0	1	12006	755	27	1		1	PIP4K2B	17	36926743	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	226561	36926743	44268467	16565	24277											
CWC25	54883	broad.mit.edu	37	chr17	36963202	36963202	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctgtcagaggaccctgaaGaccctggttacggtcagagt	13	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36963202G>T	ENST00000225428.5	-	7	1015	c.718C>A	c.(718-720)Ctt>Att	p.L240I	CWC25_ENST00000536127.1_Missense_Mutation_p.L177I	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)											central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GGACCCTGAAGACCCTGGTTA	0.512													False	0	False	17:36963202	0	T	36963202	G	T	36963202	3	4	88	1	0	0	0	0	1	0	0	0	4094	942	33	3	575	3	CWC25	17	36963202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36459	36963202	44232008	16566	24278											
FBXO47	494188	broad.mit.edu	37	chr17	37113493	37113493	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtagcagcaatgtgcatctTttaaacagtagacctaagaa	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37113493T>G	ENST00000378079.2	-	4	565	c.366A>C	c.(364-366)aaA>aaC	p.K122N		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	122										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						ATGTGCATCTTTTAAACAGTA	0.318													False	0	True	17:37113493	0	G	37113493	T	G	37113493	3	3	88	1	0	0	0	0	1	0	0	0	5796	1838	64	4	1024	4	FBXO47	17	37113493	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	150291	37113493	44081717	16567	24279											
PLXDC1	57125	broad.mit.edu	37	chr17	37234180	37234180	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttaccttctgtggtgaggCtgtcgatgaagagggaggag	16	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37234180C>A	ENST00000315392.4	-	11	1383	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	PLXDC1_ENST00000539608.1_3'UTR|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000444911.2_Missense_Mutation_p.S351I|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	391					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGTGAGGCTGTCGATGAA	0.607													False	0	False	17:37234180	0	A	37234180	C	A	37234180	3	1	88	1	0	0	0	0	1	0	0	0	12186	797	28	3	346	3	PLXDC1	17	37234180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120687	37234180	43961030	16568	24280											
PLXDC1	57125	broad.mit.edu	37	chr17	37234253	37234253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaagtgtcaggggaggCtgagtcgtggtcctcatcct	16	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37234253C>T	ENST00000315392.4	-	11	1310	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	PLXDC1_ENST00000539608.1_3'UTR|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000444911.2_Missense_Mutation_p.A327T|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	367					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCAGGGGAGGCTGAGTCGTGG	0.557													False	0	False	17:37234253	0	T	37234253	C	T	37234253	3	4	88	1	0	0	0	0	1	0	0	0	12186	797	28	2	419	2	PLXDC1	17	37234253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73	37234253	43960957	16569	24281											
PLXDC1	57125	broad.mit.edu	37	chr17	37239786	37239786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcacagctcctatgctgCaggcaggctgcaagagagaa	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37239786C>T	ENST00000315392.4	-	9	1126	c.915G>A	c.(913-915)ctG>ctA	p.L305L	PLXDC1_ENST00000539608.1_Intron|PLXDC1_ENST00000394316.2_Silent_p.L305L|PLXDC1_ENST00000444911.2_Silent_p.L265L|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	305					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTATGCTGCAGGCAGGCTG	0.567													False	0	True	17:37239786	0	T	37239786	C	T	37239786	2	4	88	1	0	0	0	0	0	0	0	1	12186	697	25	2		2	PLXDC1	17	37239786	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5533	37239786	43955424	16570	24282											
PLXDC1	57125	broad.mit.edu	37	chr17	37262146	37262146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgagaatcatgaaggcatCcgataggccggttttgacag	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37262146C>T	ENST00000315392.4	-	7	983	c.772G>A	c.(772-774)Gat>Aat	p.D258N	PLXDC1_ENST00000539608.1_Missense_Mutation_p.D185N|PLXDC1_ENST00000394316.2_Missense_Mutation_p.D258N|PLXDC1_ENST00000444911.2_Missense_Mutation_p.D218N|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	258					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGAAGGCATCCGATAGGCCG	0.587													False	0	False	17:37262146	0	T	37262146	C	T	37262146	3	4	88	1	0	0	0	0	1	0	0	0	12186	855	30	2	762	2	PLXDC1	17	37262146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22360	37262146	43933064	16571	24283											
PLXDC1	57125	broad.mit.edu	37	chr17	37296038	37296038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctccggttccagccccGcacggtccctttggcagccc	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37296038G>A	ENST00000315392.4	-	2	335	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.R42W|PLXDC1_ENST00000444911.2_Intron	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	42					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCCAGCCCCGCACGGTCCCT	0.657													False	0	True	17:37296038	0	A	37296038	G	A	37296038	3	1	88	1	0	0	0	0	1	0	0	0	12186	1086	38	1	1430	1	PLXDC1	17	37296038	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33892	37296038	43899172	16572	24284											
STAC2	342667	broad.mit.edu	37	chr17	37371375	37371375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttgcccaccataccaggCtccttgtcggggactcagag	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37371375C>T	ENST00000333461.5	-	5	1064	c.695G>A	c.(694-696)aGc>aAc	p.S232N		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	232					intracellular signal transduction		metal ion binding	p.S232N(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCATACCAGGCTCCTTGTCGG	0.617													False	0	False	17:37371375	0	T	37371375	C	T	37371375	3	4	88	1	0	0	0	0	1	0	0	0	15322	797	28	2	568	2	STAC2	17	37371375	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75337	37371375	43823835	16573	24285											
MED1	5469	broad.mit.edu	37	chr17	37564749	37564749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctgaagatgacttcatgCcagagcttgaactagttcca	8	11	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37564749C>T	ENST00000300651.6	-	17	3948	c.3725G>A	c.(3724-3726)gGc>gAc	p.G1242D	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1242	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGACTTCATGCCAGAGCTTGA	0.488										HNSCC(31;0.082)			False	0	False	17:37564749	0	T	37564749	C	T	37564749	3	4	88	1	0	0	0	0	1	0	0	0	9492	739	26	2	1024	2	MED1	17	37564749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193374	37564749	43630461	16574	24286											
MED1	5469	broad.mit.edu	37	chr17	37584042	37584042	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacttcaggttcattaaatgAcctataaaaaataaaactca	3	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37584042A>G	ENST00000300651.6	-	10	874	c.651T>C	c.(649-651)ggT>ggC	p.G217G	MED1_ENST00000394287.3_Splice_Site_p.G217G	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	217	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCATTAAATGACCTATAAAAA	0.303										HNSCC(31;0.082)			False	0	False	17:37584042	0	G	37584042	A	G	37584042	5	3	88	1	0	0	0	0	0	0	1	0	9492	289	10	4	4126	4	MED1	17	37584042	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19293	37584042	43611168	16575	24287											
CDK12	51755	broad.mit.edu	37	chr17	37618956	37618956	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacacccaaaagttacaAaacagtggacagcccaaaac	7	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37618956A>C	ENST00000447079.4	+	1	665	c.632A>C	c.(631-633)aAa>aCa	p.K211T	CDK12_ENST00000430627.2_Missense_Mutation_p.K211T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	211					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAAGTTACAAAACAGTGGAC	0.507			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			False	0	True	17:37618956	0	C	37618956	A	C	37618956	3	2	88	1	0	0	0	0	1	0	0	0	3151	14	1	4	634	4	CDK12	17	37618956	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34914	37618956	43576254	16576	24288											
CDK12	51755	broad.mit.edu	37	chr17	37627662	37627662	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacatcagaaaaggagacccCtccacctcttcccacaattg	5	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37627662C>A	ENST00000447079.4	+	2	1610	c.1577C>A	c.(1576-1578)cCt>cAt	p.P526H	CDK12_ENST00000430627.2_Missense_Mutation_p.P526H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	526					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAGGAGACCCCTCCACCTCTT	0.498			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			False	0	True	17:37627662	0	A	37627662	C	A	37627662	3	1	88	1	0	0	0	0	1	0	0	0	3151	681	24	3	1583	3	CDK12	17	37627662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8706	37627662	43567548	16577	24289											
ERBB2	2064	broad.mit.edu	37	chr17	37864607	37864607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggctacgtgctcatcGctcacaaccaagtgaggcag	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37864607G>A	ENST00000406381.2	+	5	679	c.169G>A	c.(169-171)Gct>Act	p.A57T	ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000541774.1_Missense_Mutation_p.A72T|ERBB2_ENST00000269571.5_Missense_Mutation_p.A87T|ERBB2_ENST00000540147.1_Missense_Mutation_p.A57T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A57T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A87T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A57T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A57T	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	87					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CGTGCTCATCGCTCACAACCA	0.612		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			False	0	False	17:37864607	0	A	37864607	G	A	37864607	3	1	88	1	0	0	0	0	1	0	0	0	5238	1087	38	1	269	1	ERBB2	17	37864607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236945	37864607	43330603	16578	24290											
ERBB2	2064	broad.mit.edu	37	chr17	37868294	37868294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtgcagcaagccctgtGcccgaggtacccactcactg	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37868294G>A	ENST00000406381.2	+	10	1435	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	ERBB2_ENST00000445658.2_Missense_Mutation_p.A63T|ERBB2_ENST00000541774.1_Missense_Mutation_p.A324T|ERBB2_ENST00000269571.5_Missense_Mutation_p.A339T|ERBB2_ENST00000540147.1_Missense_Mutation_p.A309T|ERBB2_ENST00000540042.1_Missense_Mutation_p.A309T|ERBB2_ENST00000584450.1_Missense_Mutation_p.A339T|ERBB2_ENST00000584601.1_Missense_Mutation_p.A309T|ERBB2_ENST00000578199.1_Missense_Mutation_p.A309T	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	339					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CAAGCCCTGTGCCCGAGGTAC	0.637		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			False	0	True	17:37868294	0	A	37868294	G	A	37868294	3	1	88	1	0	0	0	0	1	0	0	0	5238	1319	46	2	1045	2	ERBB2	17	37868294	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3687	37868294	43326916	16579	24291											
ERBB2	2064	broad.mit.edu	37	chr17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggaggatgtgcggctcGtacacagggacttggccgct	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37881332G>A	ENST00000406381.2	+	23	2944	c.2434G>A	c.(2434-2436)Gta>Ata	p.V812I	ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	842	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V842I(6)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			False	0	False	17:37881332	0	A	37881332	G	A	37881332	3	1	88	1	0	0	0	0	1	0	0	0	5238	1145	40	1	2606	1	ERBB2	17	37881332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13038	37881332	43313878	16580	24292											
ERBB2	2064	broad.mit.edu	37	chr17	37882024	37882024	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatgggatcccagcccgggaGatccctgacctgctggaaaa	13	12	0	2	rs138957632	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37882024G>T	ENST00000406381.2	+	25	3210	c.2700G>T	c.(2698-2700)gaG>gaT	p.E900D	ERBB2_ENST00000445658.2_Missense_Mutation_p.E654D|ERBB2_ENST00000541774.1_Missense_Mutation_p.E915D|ERBB2_ENST00000269571.5_Missense_Mutation_p.E930D|ERBB2_ENST00000540147.1_Missense_Mutation_p.E900D|ERBB2_ENST00000584450.1_Missense_Mutation_p.E930D|ERBB2_ENST00000584601.1_Missense_Mutation_p.E900D	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	930	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CAGCCCGGGAGATCCCTGACC	0.592		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			False	0	False	17:37882024	0	T	37882024	G	T	37882024	3	4	88	1	0	0	0	0	1	0	0	0	5238	933	33	3	2880	3	ERBB2	17	37882024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	692	37882024	43313186	16581	24293											
ERBB2	2064	broad.mit.edu	37	chr17	37883966	37883966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaaccagccagatgttcGgccccagcccccttcgcccc	9	19	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37883966G>A	ENST00000406381.2	+	29	3857	c.3347G>A	c.(3346-3348)cGg>cAg	p.R1116Q	ERBB2_ENST00000445658.2_Missense_Mutation_p.R870Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R1131Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R1146Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R1116Q|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000584601.1_Missense_Mutation_p.R1116Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1146					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CCAGATGTTCGGCCCCAGCCC	0.622		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			False	0	False	17:37883966	0	A	37883966	G	A	37883966	3	1	88	1	0	0	0	0	1	0	0	0	5238	1116	39	1	3543	1	ERBB2	17	37883966	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1942	37883966	43311244	16582	24294											
GRB7	2886	broad.mit.edu	37	chr17	37899218	37899218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcaggtgccacagctcGccacgtgtgtgaaatgctgg	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37899218G>A	ENST00000309156.4	+	4	631	c.374G>A	c.(373-375)cGc>cAc	p.R125H	GRB7_ENST00000394204.1_Missense_Mutation_p.R125H|GRB7_ENST00000394211.3_Missense_Mutation_p.R125H|GRB7_ENST00000445327.2_Missense_Mutation_p.R148H|GRB7_ENST00000309185.3_Missense_Mutation_p.R125H|GRB7_ENST00000578702.1_Intron|GRB7_ENST00000394209.2_Missense_Mutation_p.R125H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	125	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCACAGCTCGCCACGTGTGT	0.622													False	0	False	17:37899218	0	A	37899218	G	A	37899218	3	1	88	1	0	0	0	0	1	0	0	0	6806	1087	38	1	384	1	GRB7	17	37899218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15252	37899218	43295992	16583	24295											
GRB7	2886	broad.mit.edu	37	chr17	37899533	37899533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaaaaacttcgccaagtaCgaactgttcaagagctcccc	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37899533C>T	ENST00000309156.4	+	5	821	c.564C>T	c.(562-564)taC>taT	p.Y188Y	GRB7_ENST00000394204.1_Silent_p.Y188Y|GRB7_ENST00000394211.3_Silent_p.Y188Y|GRB7_ENST00000445327.2_Silent_p.Y211Y|GRB7_ENST00000309185.3_Silent_p.Y188Y|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394209.2_Silent_p.Y188Y	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	188					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCGCCAAGTACGAACTGTTCA	0.607													False	0	False	17:37899533	0	T	37899533	C	T	37899533	2	4	88	1	0	0	0	0	0	0	0	1	6806	547	19	1		1	GRB7	17	37899533	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315	37899533	43295677	16584	24296											
GRB7	2886	broad.mit.edu	37	chr17	37901227	37901227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggctggctgccttccGcctcttcaaggtgagaccct	11	15	2	1	rs147188188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37901227G>A	ENST00000309156.4	+	9	1258	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	GRB7_ENST00000394204.1_Missense_Mutation_p.R334H|GRB7_ENST00000394211.3_Missense_Mutation_p.R334H|GRB7_ENST00000445327.2_Missense_Mutation_p.R357H|GRB7_ENST00000309185.3_Missense_Mutation_p.R334H|GRB7_ENST00000394209.2_Missense_Mutation_p.R334H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	334	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCTGCCTTCCGCCTCTTCAAG	0.617													False	0	False	17:37901227	0	A	37901227	G	A	37901227	3	1	88	1	0	0	0	0	1	0	0	0	6806	1087	38	1	1031	1	GRB7	17	37901227	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1694	37901227	43293983	16585	24297											
IKZF3	22806	broad.mit.edu	37	chr17	37922578	37922578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgataactggaaccatctccGaggtgggagcaggcggtgtc	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37922578G>A	ENST00000346872.3	-	8	1056	c.995C>T	c.(994-996)tCg>tTg	p.S332L	IKZF3_ENST00000346243.3_Missense_Mutation_p.S254L|IKZF3_ENST00000377945.3_Missense_Mutation_p.S198L|IKZF3_ENST00000377944.3_Missense_Mutation_p.S189L|IKZF3_ENST00000377958.2_Missense_Mutation_p.S245L|IKZF3_ENST00000377952.2_Missense_Mutation_p.S111L|IKZF3_ENST00000467757.1_Missense_Mutation_p.S276L|IKZF3_ENST00000583368.1_Missense_Mutation_p.S85L|IKZF3_ENST00000535189.1_Missense_Mutation_p.S298L|IKZF3_ENST00000439016.2_Missense_Mutation_p.S237L|IKZF3_ENST00000350532.3_Missense_Mutation_p.S293L|IKZF3_ENST00000351680.3_Missense_Mutation_p.S293L|IKZF3_ENST00000394189.2_Missense_Mutation_p.S150L|IKZF3_ENST00000439167.2_Missense_Mutation_p.S259L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	332					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AACCATCTCCGAGGTGGGAGC	0.567													False	0	False	17:37922578	0	A	37922578	G	A	37922578	3	1	88	1	0	0	0	0	1	0	0	0	7666	1059	37	1	538	1	IKZF3	17	37922578	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21351	37922578	43272632	16586	24298											
ZPBP2	124626	broad.mit.edu	37	chr17	38033007	38033007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtttccgtccttacctAtggagctaaatcttgcccac	7	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38033007A>G	ENST00000377940.3	+	7	1035	c.896A>G	c.(895-897)tAt>tGt	p.Y299C	ZPBP2_ENST00000348931.4_Missense_Mutation_p.Y321C|ZPBP2_ENST00000584588.1_Missense_Mutation_p.Y248C	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	321					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTCCTTACCTATGGAGCTAAA	0.408													False	0	False	17:38033007	0	G	38033007	A	G	38033007	3	3	88	1	0	0	0	0	1	0	0	0	18302	449	16	4	992	4	ZPBP2	17	38033007	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	110429	38033007	43162203	16587	24299											
GSDMB	55876	broad.mit.edu	37	chr17	38065249	38065249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaagacaagctgctttactCgatagctcaggacccgattt	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38065249C>T	ENST00000394175.2	-	4	846	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	GSDMB_ENST00000394179.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000520542.1_Missense_Mutation_p.R208Q|GSDMB_ENST00000309481.7_Missense_Mutation_p.R208Q|GSDMB_ENST00000360317.3_Missense_Mutation_p.R208Q|GSDMB_ENST00000418519.1_Missense_Mutation_p.R208Q	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	208						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CTGCTTTACTCGATAGCTCAG	0.522													False	0	False	17:38065249	0	T	38065249	C	T	38065249	3	4	88	1	0	0	0	0	1	0	0	0	6864	884	31	1	655	1	GSDMB	17	38065249	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32242	38065249	43129961	16588	24300											
PSMD3	5709	broad.mit.edu	37	chr17	38142955	38142955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatgatgaacagcaagcGctacaaagaggtatccagga	10	9	1	3	rs142347522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38142955G>A	ENST00000264639.4	+	3	713	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PSMD3_ENST00000541736.1_Missense_Mutation_p.R42H	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					AACAGCAAGCGCTACAAAGAG	0.537													False	0	False	17:38142955	0	A	38142955	G	A	38142955	3	1	88	1	0	0	0	0	1	0	0	0	12775	1087	38	1	549	1	PSMD3	17	38142955	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77706	38142955	43052255	16589	24301											
PSMD3	5709	broad.mit.edu	37	chr17	38151281	38151281	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagttccgccagccctcCctcaagcgctcactcatgcc	7	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38151281C>T	ENST00000264639.4	+	7	1230	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PSMD3_ENST00000541736.1_Silent_p.S214S	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	352					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GCCAGCCCTCCCTCAAGCGCT	0.602													False	0	True	17:38151281	0	T	38151281	C	T	38151281	2	4	88	1	0	0	0	0	0	0	0	1	12775	610	22	2		2	PSMD3	17	38151281	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8326	38151281	43043929	16590	24302											
MSL1	339287	broad.mit.edu	37	chr17	38282635	38282635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaagcccttctcatgtgGgcggagtggaaagggacata	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38282635G>A	ENST00000398532.4	+	2	1283	c.968G>A	c.(967-969)gGg>gAg	p.G323E	MSL1_ENST00000579565.1_Missense_Mutation_p.G60E|MSL1_ENST00000577454.1_Missense_Mutation_p.G323E|MSL1_ENST00000578648.1_Missense_Mutation_p.G323E	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)						histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						TTCTCATGTGGGCGGAGTGGA	0.478													False	0	True	17:38282635	0	A	38282635	G	A	38282635	3	1	88	1	0	0	0	0	1	0	0	0	9944	1232	43	2	181	2	MSL1	17	38282635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131354	38282635	42912575	16591	24303											
MSL1	339287	broad.mit.edu	37	chr17	38289356	38289356	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagctggatgagaagagaaGgaaaaggtgaggccagagat	18	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38289356G>T	ENST00000398532.4	+	6	1865	c.1550G>T	c.(1549-1551)aGg>aTg	p.R517M	MSL1_ENST00000579565.1_Missense_Mutation_p.R254M|MSL1_ENST00000578648.1_Missense_Mutation_p.R501M	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)						histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GAGAAGAGAAGGAAAAGGTGA	0.478													False	0	True	17:38289356	0	T	38289356	G	T	38289356	3	4	88	1	0	0	0	0	1	0	0	0	9944	1000	35	3	779	3	MSL1	17	38289356	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6721	38289356	42905854	16592	24304											
WIPF2	147179	broad.mit.edu	37	chr17	38421339	38421339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacccacctcggcctcccCatctttactgagtaataggc	6	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38421339C>T	ENST00000323571.4	+	5	1151	c.911C>T	c.(910-912)cCa>cTa	p.P304L	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.P304L|WIPF2_ENST00000583130.1_Missense_Mutation_p.P304L|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	304						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TCGGCCTCCCCATCTTTACTG	0.582										HNSCC(43;0.11)			False	0	True	17:38421339	0	T	38421339	C	T	38421339	3	4	88	1	0	0	0	0	1	0	0	0	17452	594	21	2	925	2	WIPF2	17	38421339	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131983	38421339	42773871	16593	24305											
WIPF2	147179	broad.mit.edu	37	chr17	38430111	38430111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcccccaccaccataccGaatgcatgggtcagaacccc	6	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38430111G>A	ENST00000323571.4	+	6	1280	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q	WIPF2_ENST00000394103.3_Missense_Mutation_p.R89Q|WIPF2_ENST00000585043.1_Missense_Mutation_p.R347Q|WIPF2_ENST00000583130.1_Missense_Mutation_p.R347Q|WIPF2_ENST00000536600.1_Missense_Mutation_p.R89Q|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	347						cytoplasm|cytoskeleton	actin binding	p.R347Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCACCATACCGAATGCATGGG	0.612										HNSCC(43;0.11)			False	0	False	17:38430111	0	A	38430111	G	A	38430111	3	1	88	1	0	0	0	0	1	0	0	0	17452	1058	37	1	1058	1	WIPF2	17	38430111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8772	38430111	42765099	16594	24306											
CDC6	990	broad.mit.edu	37	chr17	38445693	38445693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcctcaaacccgatcccaGgcacaggctacaatcagttt	7	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38445693G>T	ENST00000209728.4	+	2	492	c.21G>T	c.(19-21)caG>caT	p.Q7H		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	7					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CCCGATCCCAGGCACAGGCTA	0.403													False	0	False	17:38445693	0	T	38445693	G	T	38445693	3	4	88	1	0	0	0	0	1	0	0	0	3106	991	35	3	23	3	CDC6	17	38445693	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15582	38445693	42749517	16595	24307											
IGFBP4	3487	broad.mit.edu	37	chr17	38610230	38610230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcgctggagcggctggcCgcttcacagagccgcaccca	15	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38610230C>T	ENST00000269593.4	+	3	833	c.558C>T	c.(556-558)gcC>gcT	p.A186A	IGFBP4_ENST00000542955.1_Silent_p.A86A	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	186	Thyroglobulin type-1.				DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGCGGCTGGCCGCTTCACAGA	0.642													False	0	False	17:38610230	0	T	38610230	C	T	38610230	2	4	88	1	0	0	0	0	0	0	0	1	7631	639	23	1		1	IGFBP4	17	38610230	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164537	38610230	42584980	16596	24308											
CCR7	1236	broad.mit.edu	37	chr17	38711511	38711511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgagagagcatcgcatcGcttgctcactgctgctcctc	10	13	1	3	rs141181444	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38711511G>A	ENST00000246657.2	-	3	682	c.620C>T	c.(619-621)gCg>gTg	p.A207V	CCR7_ENST00000579344.1_Missense_Mutation_p.A201V	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	207					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				GCATCGCATCGCTTGCTCACT	0.572													False	0	True	17:38711511	0	A	38711511	G	A	38711511	3	1	88	1	0	0	0	0	1	0	0	0	2969	1087	38	1	520	1	CCR7	17	38711511	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101281	38711511	42483699	16597	24309											
KRT25	147183	broad.mit.edu	37	chr17	38910676	38910676	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgtaagcctggcattatcGatctgcagaacagcattagc	10	10	1	1	rs146092638		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38910676G>A	ENST00000312150.4	-	2	534	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	158	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TGGCATTATCGATCTGCAGAA	0.388													False	0	False	17:38910676	0	A	38910676	G	A	38910676	2	1	88	1	0	0	0	0	0	0	0	1	8512	1048	37	1		1	KRT25	17	38910676	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	199165	38910676	42284534	16598	24310											
KRT27	342574	broad.mit.edu	37	chr17	38933853	38933853	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagctgctcatactcgagCttctggccctcggtctcggt	12	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38933853C>A	ENST00000301656.3	-	6	1144	c.1104G>T	c.(1102-1104)aaG>aaT	p.K368N	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	368	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CATACTCGAGCTTCTGGCCCT	0.557													False	0	False	17:38933853	0	A	38933853	C	A	38933853	3	1	88	1	0	0	0	0	1	0	0	0	8514	796	28	3	287	3	KRT27	17	38933853	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23177	38933853	42261357	16599	24311											
KRT28	162605	broad.mit.edu	37	chr17	38949454	38949454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccaaagccctttgatttgGagcatgaactgtaaaagaaa	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38949454G>A	ENST00000306658.7	-	7	1270	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	402	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CTTTGATTTGGAGCATGAACT	0.284													False	0	False	17:38949454	0	A	38949454	G	A	38949454	3	1	88	1	0	0	0	0	1	0	0	0	8515	1174	41	2	197	2	KRT28	17	38949454	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15601	38949454	42245756	16600	24312											
KRT12	3859	broad.mit.edu	37	chr17	39019556	39019556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggacagctgcgcgcagtaatCgccctcggcttcggccaagg	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39019556C>T	ENST00000251643.4	-	6	1158	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	379	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GCGCAGTAATCGCCCTCGGCT	0.607													False	0	False	17:39019556	0	T	39019556	C	T	39019556	3	4	88	1	0	0	0	0	1	0	0	0	8499	884	31	1	361	1	KRT12	17	39019556	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70102	39019556	42175654	16601	24313											
KRT12	3859	broad.mit.edu	37	chr17	39022953	39022953	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcccagttcctcgtgtTtcataccattctcgaatttt	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39022953T>A	ENST00000251643.4	-	1	509	c.486A>T	c.(484-486)gaA>gaT	p.E162D		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	162	Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TTCCTCGTGTTTCATACCATT	0.403													False	0	True	17:39022953	0	A	39022953	T	A	39022953	3	1	88	1	0	0	0	0	1	0	0	0	8499	1838	64	5	1030	5	KRT12	17	39022953	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3397	39022953	42172257	16602	24314											
KRT20	54474	broad.mit.edu	37	chr17	39038846	39038846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtctgaagtcctcagcagCcagtttagcattatcaattt	7	10	3	1	rs139752425	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39038846C>T	ENST00000167588.3	-	2	492	c.451G>A	c.(451-453)Gct>Act	p.A151T		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	151	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TCCTCAGCAGCCAGTTTAGCA	0.378													False	0	False	17:39038846	0	T	39038846	C	T	39038846	3	4	88	1	0	0	0	0	1	0	0	0	8508	739	26	2	851	2	KRT20	17	39038846	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15893	39038846	42156364	16603	24315											
KRT39	390792	broad.mit.edu	37	chr17	39122912	39122912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaggtagatgggcttgcgaCaaaagcgaggagtgggttgg	18	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39122912C>T	ENST00000355612.2	-	1	232	c.197G>A	c.(196-198)tGt>tAt	p.C66Y	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	66	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GGGCTTGCGACAAAAGCGAGG	0.527													False	0	True	17:39122912	0	T	39122912	C	T	39122912	3	4	88	1	0	0	0	0	1	0	0	0	8526	478	17	2	1306	2	KRT39	17	39122912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84066	39122912	42072298	16604	24316											
KRTAP4-8	728224	broad.mit.edu	37	chr17	39254083	39254083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcagcaggtgggctggCagcacacagactggcagcac	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39254083C>T	ENST00000333822.4	-	1	310	c.254G>A	c.(253-255)tGc>tAc	p.C85Y		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	85	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GGTGGGCTGGCAGCACACAGA	0.667													False	0	False	17:39254083	0	T	39254083	C	T	39254083	3	4	88	1	0	0	0	0	1	0	0	0	8607	710	25	2	307	2	KRTAP4-8	17	39254083	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131171	39254083	41941127	16605	24317											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39261692	39261692	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgaccagggctgcggccaaGacctctgtcaggagacctgc	13	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39261692G>T	ENST00000391415.1	+	1	109	c.52G>T	c.(52-54)Gac>Tac	p.D18Y		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CTGCGGCCAAGACCTCTGTCA	0.627													False	0	False	17:39261692	0	T	39261692	G	T	39261692	3	4	88	1	0	0	0	0	1	0	0	0	8608	942	33	3	54	3	KRTAP4-9	17	39261692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7609	39261692	41933518	16606	24318											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39262171	39262171	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgcccctgctgctgcgtgcgTccagtctgtggccgagtctc	13	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39262171T>C	ENST00000391415.1	+	1	588	c.531T>C	c.(529-531)cgT>cgC	p.R177R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	177	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gctgcGTGCGTCCAGTCTGTG	0.662													False	0	False	17:39262171	0	C	39262171	T	C	39262171	2	2	88	1	0	0	0	0	0	0	0	1	8608	1654	58	4		4	KRTAP4-9	17	39262171	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	479	39262171	41933039	16607	24319											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39262207	39262207	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctcctgccacaccacttgCtatcgcccaacctgtgtcat	6	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39262207C>A	ENST00000391415.1	+	1	624	c.567C>A	c.(565-567)tgC>tgA	p.C189*		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	189						keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ACACCACTTGCTATCGCCCAA	0.647													False	0	False	17:39262207	0	A	39262207	C	A	39262207	4	1	88	1	0	0	0	0	0	1	0	0	8608	805	28	3	569	3	KRTAP4-9	17	39262207	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36	39262207	41933003	16608	24320											
KRTAP4-5	85289	broad.mit.edu	37	chr17	39305727	39305727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggacacacagcagctgGggcagcagcaggtggtcctg	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39305727G>A	ENST00000343246.4	-	1	327	c.293C>T	c.(292-294)cCc>cTc	p.P98L		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	103	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			acagcagctggggcagcagca	0.662													False	0	True	17:39305727	0	A	39305727	G	A	39305727	3	1	88	1	0	0	0	0	1	0	0	0	8605	1232	43	2	256	2	KRTAP4-5	17	39305727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43520	39305727	41889483	16609	24321											
KRTAP4-5	85289	broad.mit.edu	37	chr17	39305864	39305864	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagggtggcagcaggtgggCtggtagcacacagactggca	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39305864C>A	ENST00000343246.4	-	1	190	c.156G>T	c.(154-156)caG>caT	p.Q52H		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	52	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcagGTGGGCTGGTAGCACA	0.672													False	0	True	17:39305864	0	A	39305864	C	A	39305864	3	1	88	1	0	0	0	0	1	0	0	0	8605	796	28	3	393	3	KRTAP4-5	17	39305864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	39305864	41889346	16610	24322											
KRTAP9-9	81870	broad.mit.edu	37	chr17	39411913	39411913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggtccagctgctgtggCcaaaccagctgtgggtccag	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39411913C>T	ENST00000394008.1	+	1	278	c.276C>T	c.(274-276)ggC>ggT	p.G92G		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	92						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCTGTGGCCAAACCAGCT	0.627													False	0	False	17:39411913	0	T	39411913	C	T	39411913	2	4	88	1	0	0	0	0	0	0	0	1	8628	726	26	2		2	KRTAP9-9	17	39411913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106049	39411913	41783297	16611	24323											
KRTAP17-1	83902	broad.mit.edu	37	chr17	39471738	39471738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccagatccacagcaagaCgatccgcagcagctgccccc	9	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39471738C>T	ENST00000334202.3	-	1	209	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	55						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			cacagcaagacgatccgcagc	0.706													False	0	False	17:39471738	0	T	39471738	C	T	39471738	2	4	88	1	0	0	0	0	0	0	0	1	8577	523	19	1		1	KRTAP17-1	17	39471738	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59825	39471738	41723472	16612	24324											
KRT33A	3883	broad.mit.edu	37	chr17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagatgcccacctgcgtggCgaaccattgctccacttccc	8	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39503321C>T	ENST00000007735.3	-	4	786	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	248	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622													False	0	False	17:39503321	0	T	39503321	C	T	39503321	3	4	88	1	0	0	0	0	1	0	0	0	8519	768	27	1	488	1	KRT33A	17	39503321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31583	39503321	41691889	16613	24325											
KRT34	3885	broad.mit.edu	37	chr17	39538384	39538384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgcagttgctcacattggCggggatgttgcaggccccag	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39538384C>T	ENST00000394001.1	-	1	271	c.241G>A	c.(241-243)Gcc>Acc	p.A81T		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	81	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CTCACATTGGCGGGGATGTTG	0.652													False	0	True	17:39538384	0	T	39538384	C	T	39538384	3	4	88	1	0	0	0	0	1	0	0	0	8521	768	27	1	1097	1	KRT34	17	39538384	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35063	39538384	41656826	16614	24326											
KRT34	3885	broad.mit.edu	37	chr17	39538461	39538461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgggaggagcagctggtgCggcagcccaggctgggcagg	21	11	0	0	rs139913573		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39538461C>T	ENST00000394001.1	-	1	194	c.164G>A	c.(163-165)cGc>cAc	p.R55H		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	55	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.R55H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCAGCTGGTGCGGCAGCCCAG	0.627													False	0	False	17:39538461	0	T	39538461	C	T	39538461	3	4	88	1	0	0	0	0	1	0	0	0	8521	768	27	1	1174	1	KRT34	17	39538461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77	39538461	41656749	16615	24327											
KRT31	3881	broad.mit.edu	37	chr17	39551317	39551317	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagcgtgttttccagagagtCtcgctgtggtggagaagatt	14	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39551317C>T	ENST00000251645.2	-	6	932	c.880G>A	c.(880-882)Gac>Aac	p.D294N		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	294	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCCAGAGAGTCTCGCTGTGGT	0.547													False	0	False	17:39551317	0	T	39551317	C	T	39551317	3	4	88	1	0	0	0	0	1	0	0	0	8517	913	32	2	378	2	KRT31	17	39551317	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12856	39551317	41643893	16616	24328											
KRT38	8687	broad.mit.edu	37	chr17	39595014	39595014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcctcatactgagcccGcatctcccccagcaccctgt	7	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39595014G>A	ENST00000246646.3	-	4	828	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	277	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TACTGAGCCCGCATCTCCCCC	0.582													False	0	True	17:39595014	0	A	39595014	G	A	39595014	3	1	88	1	0	0	0	0	1	0	0	0	8525	1086	38	1	557	1	KRT38	17	39595014	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43697	39595014	41600196	16617	24329											
KRT13	3860	broad.mit.edu	37	chr17	39659314	39659314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatccatctccacgttgaCctggccgaccacctggttgc	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39659314C>T	ENST00000246635.3	-	4	818	c.772G>A	c.(772-774)Gtc>Atc	p.V258I	KRT13_ENST00000587544.1_Missense_Mutation_p.V258I|KRT13_ENST00000336861.3_Missense_Mutation_p.V258I	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	258	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCCACGTTGACCTGGCCGACC	0.592													False	0	False	17:39659314	0	T	39659314	C	T	39659314	3	4	88	1	0	0	0	0	1	0	0	0	8500	507	18	2	624	2	KRT13	17	39659314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64300	39659314	41535896	16618	24330											
KRT15	3866	broad.mit.edu	37	chr17	39671904	39671904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagctgcgtggcatagCggcactctgtctcggccagt	14	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39671904C>T	ENST00000254043.3	-	6	4652	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	KRT15_ENST00000393974.3_Missense_Mutation_p.R191H|KRT15_ENST00000393976.2_Missense_Mutation_p.R356H|KRT15_ENST00000393981.3_Missense_Mutation_p.R191H	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	356	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CGTGGCATAGCGGCACTCTGT	0.597													False	0	False	17:39671904	0	T	39671904	C	T	39671904	3	4	88	1	0	0	0	0	1	0	0	0	8502	768	27	1	315	1	KRT15	17	39671904	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12590	39671904	41523306	16619	24331											
KRT15	3866	broad.mit.edu	37	chr17	39675024	39675024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagccaggagggaaccccctCgggttgagccacccccaaag	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39675024C>T	ENST00000254043.3	-	1	3641	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.R19Q	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	19	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGAACCCCCTCGGGTTGAGCC	0.582													False	0	True	17:39675024	0	T	39675024	C	T	39675024	3	4	88	1	0	0	0	0	1	0	0	0	8502	884	31	1	1346	1	KRT15	17	39675024	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3120	39675024	41520186	16620	24332											
KRT19	3880	broad.mit.edu	37	chr17	39684192	39684192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctagctcgccgttggccGcctccagggcgcgcaccttg	12	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39684192G>A	ENST00000361566.3	-	1	368	c.308C>T	c.(307-309)gCg>gTg	p.A103V		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GCCGTTGGCCGCCTCCAGGGC	0.657													False	0	False	17:39684192	0	A	39684192	G	A	39684192	3	1	88	1	0	0	0	0	1	0	0	0	8506	1087	38	1	918	1	KRT19	17	39684192	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9168	39684192	41511018	16621	24333											
KRT16	3868	broad.mit.edu	37	chr17	39767452	39767452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctccacgttcacatctcCgccggtctgacctctcagag	7	17	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39767452C>T	ENST00000301653.4	-	4	866	c.802G>A	c.(802-804)Gga>Aga	p.G268R		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	268	Linker 12.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TTCACATCTCCGCCGGTCTGA	0.592													False	0	False	17:39767452	0	T	39767452	C	T	39767452	3	4	88	1	0	0	0	0	1	0	0	0	8503	661	23	1	639	1	KRT16	17	39767452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83260	39767452	41427758	16622	24334											
KRT16	3868	broad.mit.edu	37	chr17	39768755	39768755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatagccgccccccagcccGcaggctcccccagaggagaa	10	20	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39768755G>A	ENST00000301653.4	-	1	250	c.186C>T	c.(184-186)tgC>tgT	p.C62C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	62	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCCCCAGCCCGCAGGCTCCCC	0.692													False	0	True	17:39768755	0	A	39768755	G	A	39768755	2	1	88	1	0	0	0	0	0	0	0	1	8503	1079	38	1		1	KRT16	17	39768755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1303	39768755	41426455	16623	24335											
JUP	3728	broad.mit.edu	37	chr17	39777096	39777096	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctgcacgcagtagcggttCtctgtctccgccaggttgcc	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39777096C>A	ENST00000540235.1	-	9	1472	c.1473G>T	c.(1471-1473)gaG>gaT	p.E491D	KRT17_ENST00000311208.8_Missense_Mutation_p.E332D			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AGTAGCGGTTCTCTGTCTCCG	0.637													False	0	False	17:39777096	0	A	39777096	C	A	39777096	3	1	88	1	0	0	0	0	1	0	0	0	8022	912	32	3		3	JUP	17	39777096	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8341	39777096	41418114	16624	24336											
JUP	3728	broad.mit.edu	37	chr17	39777943	39777943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcggctcaggtccacgcCtggggcagcgtccatctcca	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39777943C>A	ENST00000540235.1	-	7	1212	c.1213G>T	c.(1213-1215)Ggc>Tgc	p.G405C	KRT17_ENST00000311208.8_Missense_Mutation_p.G246C			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AGGTCCACGCCTGGGGCAGCG	0.567													False	0	False	17:39777943	0	A	39777943	C	A	39777943	3	1	88	1	0	0	0	0	1	0	0	0	8022	681	24	3		3	JUP	17	39777943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	847	39777943	41417267	16625	24337											
GAST	2520	broad.mit.edu	37	chr17	39872089	39872089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagaagcctatggatggatgGacttcggccgccgcagtgct	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39872089G>T	ENST00000329402.3	+	3	338	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	91						extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGGATGGATGGACTTCGGCCG	0.572													False	0	True	17:39872089	0	T	39872089	G	T	39872089	3	4	88	1	0	0	0	0	1	0	0	0	6295	1174	41	3	277	3	GAST	17	39872089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94146	39872089	41323121	16626	24338											
HAP1	9001	broad.mit.edu	37	chr17	39881248	39881248	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttccatcaccccttcctcaGccggcaccttcttggcagcc	6	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39881248G>T	ENST00000393939.2	-	10	1499	c.1490C>A	c.(1489-1491)gCt>gAt	p.A497D	HAP1_ENST00000310778.5_Missense_Mutation_p.A574D|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.A505D|HAP1_ENST00000347901.4_Missense_Mutation_p.A522D			P54257	HAP1_HUMAN	huntingtin-associated protein 1	557	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	p.A522G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCCTTCCTCAGCCGGCACCTT	0.632													False	0	False	17:39881248	0	T	39881248	G	T	39881248	3	4	88	1	0	0	0	0	1	0	0	0	7000	971	34	3	298	3	HAP1	17	39881248	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9159	39881248	41313962	16627	24339											
JUP	3728	broad.mit.edu	37	chr17	39919402	39919402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtccttgtcaccagcacGcaggatggcatggatgagag	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39919402G>A	ENST00000393931.3	-	8	1448	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.R444C|JUP_ENST00000393930.1_Missense_Mutation_p.R444C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	444					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCACCAGCACGCAGGATGGCA	0.612													False	0	False	17:39919402	0	A	39919402	G	A	39919402	3	1	88	1	0	0	0	0	1	0	0	0	8022	1087	38	1	935	1	JUP	17	39919402	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38154	39919402	41275808	16628	24340											
FKBP10	60681	broad.mit.edu	37	chr17	39977920	39977920	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcccggggagtcccaGgcagtgctgtgctgctgttt	14	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39977920G>T	ENST00000321562.4	+	9	1518	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C	FKBP10_ENST00000544340.1_Missense_Mutation_p.G245C	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	472	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGGAGTCCCAGGCAGTGCTGT	0.657													False	0	False	17:39977920	0	T	39977920	G	T	39977920	3	4	88	1	0	0	0	0	1	0	0	0	5942	1000	35	3	1448	3	FKBP10	17	39977920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58518	39977920	41217290	16629	24341											
FKBP10	60681	broad.mit.edu	37	chr17	39978520	39978520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgagggcaaaggacgcCtcatgcctgggcaggaccct	15	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39978520C>A	ENST00000321562.4	+	10	1713	c.1609C>A	c.(1609-1611)Ctc>Atc	p.L537I	FKBP10_ENST00000544340.1_Missense_Mutation_p.L310I	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	537					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CAAAGGACGCCTCATGCCTGG	0.602													False	0	False	17:39978520	0	A	39978520	C	A	39978520	3	1	88	1	0	0	0	0	1	0	0	0	5942	681	24	3	1647	3	FKBP10	17	39978520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	600	39978520	41216690	16630	24342											
KLHL10	317719	broad.mit.edu	37	chr17	39994291	39994291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgagcttagactagaggGcaagctctgcgacgtggtca	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39994291G>A	ENST00000293303.4	+	1	260	c.107G>A	c.(106-108)gGc>gAc	p.G36D	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	36						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AGACTAGAGGGCAAGCTCTGC	0.522													False	0	True	17:39994291	0	A	39994291	G	A	39994291	3	1	88	1	0	0	0	0	1	0	0	0	8416	1203	42	2	109	2	KLHL10	17	39994291	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15771	39994291	41200919	16631	24343											
KLHL10	317719	broad.mit.edu	37	chr17	39998189	39998189	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatacacccggaccgtgccTatcacaccggacaatgtgga	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39998189T>C	ENST00000293303.4	+	2	462	c.309T>C	c.(307-309)ccT>ccC	p.P103P	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	103	BTB.					cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GGACCGTGCCTATCACACCGG	0.493													False	0	False	17:39998189	0	C	39998189	T	C	39998189	2	2	88	1	0	0	0	0	0	0	0	1	8416	1509	53	4		4	KLHL10	17	39998189	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3898	39998189	41197021	16632	24344											
KLHL10	317719	broad.mit.edu	37	chr17	39998252	39998252	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtttaacatcatgggtatCgtcaggggttgctgcgagtt	13	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39998252C>T	ENST00000293303.4	+	2	525	c.372C>T	c.(370-372)atC>atT	p.I124I	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	124						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TCATGGGTATCGTCAGGGGTT	0.498													False	0	False	17:39998252	0	T	39998252	C	T	39998252	2	4	88	1	0	0	0	0	0	0	0	1	8416	874	31	1		1	KLHL10	17	39998252	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	39998252	41196958	16633	24345											
KLHL10	317719	broad.mit.edu	37	chr17	40001975	40001975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacagaggagtgatgcaagcGccacaacactttatgggaag	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40001975G>A	ENST00000293303.4	+	3	1435	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	428						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGATGCAAGCGCCACAACACT	0.498													False	0	False	17:40001975	0	A	40001975	G	A	40001975	3	1	88	1	0	0	0	0	1	0	0	0	8416	1087	38	1	1292	1	KLHL10	17	40001975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3723	40001975	41193235	16634	24346											
KLHL11	55175	broad.mit.edu	37	chr17	40010534	40010534	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgccactgtcgagtctctgTatcatagcaagtaattacag	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40010534T>C	ENST00000319121.3	-	2	1645	c.1585A>G	c.(1585-1587)Aca>Gca	p.T529A		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	529						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CGAGTCTCTGTATCATAGCAA	0.438													False	0	False	17:40010534	0	C	40010534	T	C	40010534	3	2	88	1	0	0	0	0	1	0	0	0	8417	1638	57	4	545	4	KLHL11	17	40010534	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8559	40010534	41184676	16635	24347											
KLHL11	55175	broad.mit.edu	37	chr17	40011445	40011445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttctccgtatcatatcaGcagccttcagagcaagttgg	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40011445G>A	ENST00000319121.3	-	2	734	c.674C>T	c.(673-675)gCt>gTt	p.A225V		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	225	BACK.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TATCATATCAGCAGCCTTCAG	0.383													False	0	False	17:40011445	0	A	40011445	G	A	40011445	3	1	88	1	0	0	0	0	1	0	0	0	8417	971	34	2	1456	2	KLHL11	17	40011445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	911	40011445	41183765	16636	24348											
ACLY	47	broad.mit.edu	37	chr17	40039420	40039420	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccgatgcaccagcagacGatgggcttagtgaggcggcc	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40039420G>A	ENST00000352035.2	-	20	2350	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	ACLY_ENST00000393896.2_Silent_p.I730I|ACLY_ENST00000537919.1_Silent_p.I469I|ACLY_ENST00000353196.1_Silent_p.I730I|ACLY_ENST00000590151.1_Silent_p.I740I	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	740					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ACCAGCAGACGATGGGCTTAG	0.562													False	0	False	17:40039420	0	A	40039420	G	A	40039420	2	1	88	1	0	0	0	0	0	0	0	1	143	1048	37	1		1	ACLY	17	40039420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27975	40039420	41155790	16637	24349											
ACLY	47	broad.mit.edu	37	chr17	40040492	40040492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggagtgtcctgatagCgtaacacatgatccatgaat	9	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40040492C>T	ENST00000352035.2	-	19	2238	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	ACLY_ENST00000393896.2_Missense_Mutation_p.R693H|ACLY_ENST00000537919.1_Missense_Mutation_p.R432H|ACLY_ENST00000353196.1_Missense_Mutation_p.R693H|ACLY_ENST00000590151.1_Missense_Mutation_p.R703H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	703					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GTCCTGATAGCGTAACACATG	0.438													False	0	False	17:40040492	0	T	40040492	C	T	40040492	3	4	88	1	0	0	0	0	1	0	0	0	143	768	27	1	1241	1	ACLY	17	40040492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1072	40040492	41154718	16638	24350											
ACLY	47	broad.mit.edu	37	chr17	40048575	40048575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgctgtcataggcagagCggagagaggcaaagttgatg	17	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40048575C>T	ENST00000352035.2	-	16	1857	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	ACLY_ENST00000393896.2_Missense_Mutation_p.R566H|ACLY_ENST00000537919.1_Missense_Mutation_p.R305H|ACLY_ENST00000353196.1_Missense_Mutation_p.R566H|ACLY_ENST00000590151.1_Missense_Mutation_p.R576H	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	576					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATAGGCAGAGCGGAGAGAGGC	0.552													False	0	False	17:40048575	0	T	40048575	C	T	40048575	3	4	88	1	0	0	0	0	1	0	0	0	143	768	27	1	1634	1	ACLY	17	40048575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8083	40048575	41146635	16639	24351											
ACLY	47	broad.mit.edu	37	chr17	40062789	40062789	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccttcggtcacctgtacacGacagaggcgccacccccggc	10	19	1	1	rs115877497	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40062789G>A	ENST00000352035.2	-	8	988	c.858C>T	c.(856-858)gtC>gtT	p.V286V	ACLY_ENST00000393896.2_Silent_p.V286V|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Silent_p.V286V|ACLY_ENST00000590151.1_Silent_p.V286V	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	286					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ACCTGTACACGACAGAGGCGC	0.602													False	0	False	17:40062789	0	A	40062789	G	A	40062789	2	1	88	1	0	0	0	0	0	0	0	1	143	1045	37	1		1	ACLY	17	40062789	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14214	40062789	41132421	16640	24352											
TTC25	83538	broad.mit.edu	37	chr17	40117142	40117142	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagatgaggacgatgagGcttttggggaagctctgcag	16	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40117142G>A	ENST00000591658.1	+	0	1531							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GGACGATGAGGCTTTTGGGGA	0.542													False	0	False	17:40117142	0	A	40117142	G	A	40117142	1	1	88	0	1	0	0	0	0	0	0	0	16777	1203	42	2		2	TTC25	17	40117142	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54353	40117142	41078068	16641	24353											
CNP	1267	broad.mit.edu	37	chr17	40120260	40120260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcttgcgcggcctgccaGgaagcggcaagtccacgctg	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40120260G>A	ENST00000393892.3	+	2	322	c.178G>A	c.(178-180)Gga>Aga	p.G60R	CNP_ENST00000591072.1_Intron|CNP_ENST00000592446.1_3'UTR|CNP_ENST00000472031.1_Intron|CNP_ENST00000393888.1_Missense_Mutation_p.G40R	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CGGCCTGCCAGGAAGCGGCAA	0.602													False	0	False	17:40120260	0	A	40120260	G	A	40120260	3	1	88	1	0	0	0	0	1	0	0	0	3649	1001	35	2	184	2	CNP	17	40120260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3118	40120260	41074950	16642	24354											
CNP	1267	broad.mit.edu	37	chr17	40125661	40125661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgccgcgggggagccgcGcccacatcaccctcggctgt	13	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40125661G>A	ENST00000393892.3	+	4	1129	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	CNP_ENST00000591072.1_Missense_Mutation_p.A94T|CNP_ENST00000472031.1_3'UTR|CNP_ENST00000393888.1_Missense_Mutation_p.A309T	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGGGAGCCGCGCCCACATCAC	0.652													False	0	True	17:40125661	0	A	40125661	G	A	40125661	3	1	88	1	0	0	0	0	1	0	0	0	3649	1087	38	1	999	1	CNP	17	40125661	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5401	40125661	41069549	16643	24355											
DHX58	79132	broad.mit.edu	37	chr17	40257177	40257177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttctggatcacttcttgCtggtccctctgcaggcggag	11	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40257177C>T	ENST00000251642.3	-	10	1482	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	420	Helicase C-terminal.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCACTTCTTGCTGGTCCCTCT	0.587													False	0	False	17:40257177	0	T	40257177	C	T	40257177	2	4	88	1	0	0	0	0	0	0	0	1	4544	796	28	2		2	DHX58	17	40257177	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131516	40257177	40938033	16644	24356											
DHX58	79132	broad.mit.edu	37	chr17	40257933	40257933	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctactgaactgcctttgcaGgatcttttccagcatctcca	7	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40257933G>T	ENST00000251642.3	-	9	1294	c.1072C>A	c.(1072-1074)Ctg>Atg	p.L358M		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	358	Helicase C-terminal.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGCCTTTGCAGGATCTTTTCC	0.542													False	0	False	17:40257933	0	T	40257933	G	T	40257933	3	4	88	1	0	0	0	0	1	0	0	0	4544	991	35	3	988	3	DHX58	17	40257933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	756	40257933	40937277	16645	24357											
DHX58	79132	broad.mit.edu	37	chr17	40259626	40259626	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctcccgcccctcaccatcGaacagggccagcagccggcg	10	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40259626G>A	ENST00000251642.3	-	8	1215	c.993C>T	c.(991-993)ttC>ttT	p.F331F		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	331					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTCACCATCGAACAGGGCCA	0.662													False	0	False	17:40259626	0	A	40259626	G	A	40259626	2	1	88	1	0	0	0	0	0	0	0	1	4544	1049	37	1		1	DHX58	17	40259626	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1693	40259626	40935584	16646	24358											
DHX58	79132	broad.mit.edu	37	chr17	40259654	40259654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagccggcgctcggcaCacaggatctgggttttagtg	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40259654C>T	ENST00000251642.3	-	8	1187	c.965G>A	c.(964-966)tGt>tAt	p.C322Y		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	322					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCGCTCGGCACACAGGATCTG	0.662													False	0	True	17:40259654	0	T	40259654	C	T	40259654	3	4	88	1	0	0	0	0	1	0	0	0	4544	478	17	2	1099	2	DHX58	17	40259654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	40259654	40935556	16647	24359											
KAT2A	2648	broad.mit.edu	37	chr17	40266508	40266508	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caactgagacccctgcttacGaatgccaggaacgctctcca	8	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40266508G>A	ENST00000225916.5	-	14	2187	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	712					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCCTGCTTACGAATGCCAGGA	0.587													False	0	False	17:40266508	0	A	40266508	G	A	40266508	5	1	88	1	0	0	0	0	0	0	1	0	8031	1072	37	1	399	1	KAT2A	17	40266508	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6854	40266508	40928702	16648	24360											
KAT2A	2648	broad.mit.edu	37	chr17	40267794	40267794	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcgtaggtgaggaagtagaGaatgttgtgcttgatgtgat	17	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40267794G>A	ENST00000225916.5	-	12	1875	c.1822C>T	c.(1822-1824)Ctc>Ttc	p.L608F		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	608	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGGAAGTAGAGAATGTTGTGC	0.582													False	0	False	17:40267794	0	A	40267794	G	A	40267794	3	1	88	1	0	0	0	0	1	0	0	0	8031	942	33	2	719	2	KAT2A	17	40267794	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1286	40267794	40927416	16649	24361											
KAT2A	2648	broad.mit.edu	37	chr17	40271425	40271425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgggggaggctatcacagCtctggggcacgtggcagtaa	17	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40271425C>A	ENST00000225916.5	-	6	964	c.911G>T	c.(910-912)aGc>aTc	p.S304I		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	304					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCTATCACAGCTCTGGGGCAC	0.607													False	0	False	17:40271425	0	A	40271425	C	A	40271425	3	1	88	1	0	0	0	0	1	0	0	0	8031	797	28	3	1654	3	KAT2A	17	40271425	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3631	40271425	40923785	16650	24362											
KCNH4	23415	broad.mit.edu	37	chr17	40312104	40312104	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaactgtgcctcaagaggCttggggttgggggtgaggcc	19	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40312104C>A	ENST00000264661.3	-	16	3340	c.3008G>T	c.(3007-3009)aGc>aTc	p.S1003I	KCNH4_ENST00000607371.1_Missense_Mutation_p.S1003I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	1003					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTCAAGAGGCTTGGGGTTGG	0.652													False	0	False	17:40312104	0	A	40312104	C	A	40312104	3	1	88	1	0	0	0	0	1	0	0	0	8084	797	28	3	49	3	KCNH4	17	40312104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40679	40312104	40883106	16651	24363											
KCNH4	23415	broad.mit.edu	37	chr17	40317623	40317623	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtcagagctttcacatcagcActggtctttagcacgaagtt	9	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40317623A>G	ENST00000264661.3	-	11	2261	c.1929T>C	c.(1927-1929)agT>agC	p.S643S	KCNH4_ENST00000607371.1_Silent_p.S643S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	643					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCACATCAGCACTGGTCTTTA	0.597													False	0	False	17:40317623	0	G	40317623	A	G	40317623	2	3	88	1	0	0	0	0	0	0	0	1	8084	156	6	4		4	KCNH4	17	40317623	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5519	40317623	40877587	16652	24364											
KCNH4	23415	broad.mit.edu	37	chr17	40318319	40318319	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgacggtgtccttacccagGatggccagcaccatgttgtc	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318319G>T	ENST00000264661.3	-	10	2168	c.1836C>A	c.(1834-1836)atC>atA	p.I612I	KCNH4_ENST00000607371.1_Silent_p.I612I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	612					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTTACCCAGGATGGCCAGCA	0.607													False	0	False	17:40318319	0	T	40318319	G	T	40318319	2	4	88	1	0	0	0	0	0	0	0	1	8084	1164	41	3		3	KCNH4	17	40318319	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	696	40318319	40876891	16653	24365											
KCNH4	23415	broad.mit.edu	37	chr17	40318398	40318398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctgcagggcatccccaCggcgcaacaggtactcgccc	12	17	0	0	rs146559611	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318398C>T	ENST00000264661.3	-	10	2089	c.1757G>A	c.(1756-1758)cGt>cAt	p.R586H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R586H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	586					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCATCCCCACGGCGCAACAG	0.642													False	0	False	17:40318398	0	T	40318398	C	T	40318398	3	4	88	1	0	0	0	0	1	0	0	0	8084	536	19	1	1324	1	KCNH4	17	40318398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	40318398	40876812	16654	24366											
KCNH4	23415	broad.mit.edu	37	chr17	40318495	40318495	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctgccccgaacaacggcaGctgcaggatctcccgattca	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318495G>T	ENST00000264661.3	-	10	1992	c.1660C>A	c.(1660-1662)Ctg>Atg	p.L554M	KCNH4_ENST00000607371.1_Missense_Mutation_p.L554M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	554					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AACAACGGCAGCTGCAGGATC	0.607													False	0	False	17:40318495	0	T	40318495	G	T	40318495	3	4	88	1	0	0	0	0	1	0	0	0	8084	962	34	3	1421	3	KCNH4	17	40318495	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97	40318495	40876715	16655	24367											
KCNH4	23415	broad.mit.edu	37	chr17	40321559	40321559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtattcgagcatgcgctgcTtgagcggccgcggcaggcgg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40321559T>C	ENST00000264661.3	-	9	1858	c.1526A>G	c.(1525-1527)aAg>aGg	p.K509R	KCNH4_ENST00000607371.1_Missense_Mutation_p.K509R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	509					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATGCGCTGCTTGAGCGGCCG	0.632													False	0	False	17:40321559	0	C	40321559	T	C	40321559	3	2	88	1	0	0	0	0	1	0	0	0	8084	1609	56	4	1559	4	KCNH4	17	40321559	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3064	40321559	40873651	16656	24368											
KCNH4	23415	broad.mit.edu	37	chr17	40330471	40330471	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcttgatgggcatcatgTccaggaggcaccaaaaggct	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40330471T>C	ENST00000264661.3	-	3	667	c.335A>G	c.(334-336)gAc>gGc	p.D112G	KCNH4_ENST00000607371.1_Missense_Mutation_p.D112G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	112	PAC.				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGCATCATGTCCAGGAGGCA	0.562													False	0	False	17:40330471	0	C	40330471	T	C	40330471	3	2	88	1	0	0	0	0	1	0	0	0	8084	1667	58	4	2774	4	KCNH4	17	40330471	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8912	40330471	40864739	16657	24369											
GHDC	84514	broad.mit.edu	37	chr17	40344950	40344950	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggcctccccaaggtcctGgtttgaggtcgggggcagtg	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40344950G>T	ENST00000301671.8	-	3	802	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	GHDC_ENST00000593209.1_Missense_Mutation_p.Q121K|GHDC_ENST00000436923.2_Missense_Mutation_p.Q121K|GHDC_ENST00000587427.1_Missense_Mutation_p.Q121K|GHDC_ENST00000414034.3_Missense_Mutation_p.Q121K|GHDC_ENST00000428494.2_Intron			Q8N2G8	GHDC_HUMAN	GH3 domain containing	121						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CCAAGGTCCTGGTTTGAGGTC	0.592													False	0	False	17:40344950	0	T	40344950	G	T	40344950	3	4	88	1	0	0	0	0	1	0	0	0	6414	1357	47	3	1348	3	GHDC	17	40344950	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14479	40344950	40850260	16658	24370											
STAT5A	6776	broad.mit.edu	37	chr17	40452779	40452779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaaccggcagcagatcCgcagggctgagcacctctgc	14	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40452779C>T	ENST00000345506.4	+	9	1522	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	STAT5A_ENST00000452307.2_Missense_Mutation_p.R294C|STAT5A_ENST00000588868.1_Missense_Mutation_p.R294C|STAT5A_ENST00000590949.1_Missense_Mutation_p.R294C|STAT5A_ENST00000546010.2_Missense_Mutation_p.R264C	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	294					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCAGCAGATCCGCAGGGCTGA	0.622													False	0	False	17:40452779	0	T	40452779	C	T	40452779	3	4	88	1	0	0	0	0	1	0	0	0	15350	652	23	1	906	1	STAT5A	17	40452779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107829	40452779	40742431	16659	24371											
STAT3	6774	broad.mit.edu	37	chr17	40468908	40468908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggcaggtcaatggtattgCtgcaggtcgttctgtaggaa	14	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40468908C>T	ENST00000264657.5	-	23	2468	c.2156G>A	c.(2155-2157)aGc>aAc	p.S719N	STAT3_ENST00000404395.3_Missense_Mutation_p.S718N|STAT3_ENST00000588969.1_Missense_Mutation_p.S719N|STAT3_ENST00000389272.3_Missense_Mutation_p.S621N|STAT3_ENST00000585517.1_Intron	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	719					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AATGGTATTGCTGCAGGTCGT	0.483									Hyperimmunoglobulin E Recurrent Infection Syndrome				False	0	False	17:40468908	0	T	40468908	C	T	40468908	3	4	88	1	0	0	0	0	1	0	0	0	15348	797	28	2	164	2	STAT3	17	40468908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16129	40468908	40726302	16660	24372											
PTRF	284119	broad.mit.edu	37	chr17	40557079	40557079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcttctccagggtgtgccGcgtcttctccaggttttcct	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40557079G>A	ENST00000357037.5	-	2	1218	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	267					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		AGGGTGTGCCGCGTCTTCTCC	0.607													False	0	False	17:40557079	0	A	40557079	G	A	40557079	3	1	88	1	0	0	0	0	1	0	0	0	12894	1086	38	1	377	1	PTRF	17	40557079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88171	40557079	40638131	16661	24373											
PTRF	284119	broad.mit.edu	37	chr17	40557266	40557266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaacctccaccgcctcGtccgacgaaagctccagcgc	7	20	1	0	rs137932986		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40557266G>A	ENST00000357037.5	-	2	1031	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	204					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	p.D204D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCACCGCCTCGTCCGACGAAA	0.672													False	0	False	17:40557266	0	A	40557266	G	A	40557266	2	1	88	1	0	0	0	0	0	0	0	1	12894	1136	40	1		1	PTRF	17	40557266	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187	40557266	40637944	16662	24374											
ATP6V0A1	535	broad.mit.edu	37	chr17	40620067	40620067	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaagctaacattccgaTtatggacaccggtgaaaacc	8	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40620067T>G	ENST00000343619.4	+	4	359	c.236T>G	c.(235-237)aTt>aGt	p.I79S	ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.I79S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.I79S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	79					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.I79N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AACATTCCGATTATGGACACC	0.393													False	0	False	17:40620067	0	G	40620067	T	G	40620067	3	3	88	1	0	0	0	0	1	0	0	0	1172	1493	52	4	246	4	ATP6V0A1	17	40620067	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62801	40620067	40575143	16663	24375											
ATP6V0A1	535	broad.mit.edu	37	chr17	40646415	40646415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttggagacttcggtcatgGcattttaatgaccctttttg	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40646415G>A	ENST00000343619.4	+	12	1361	c.1238G>A	c.(1237-1239)gGc>gAc	p.G413D	ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.G59D|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G413D|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G370D|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G370D|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G420D|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G413D	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	413					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCGGTCATGGCATTTTAATG	0.388													False	0	False	17:40646415	0	A	40646415	G	A	40646415	3	1	88	1	0	0	0	0	1	0	0	0	1172	1203	42	2	1301	2	ATP6V0A1	17	40646415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26348	40646415	40548795	16664	24376											
ATP6V0A1	535	broad.mit.edu	37	chr17	40660601	40660601	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttcaagccttccgaggaCgaagtggtaagatgaaagct	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40660601C>T	ENST00000343619.4	+	19	2247	c.2124C>T	c.(2122-2124)gaC>gaT	p.D708D	ATP6V0A1_ENST00000544137.1_Silent_p.D354D|ATP6V0A1_ENST00000393829.2_Intron|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000585525.1_Silent_p.D665D|ATP6V0A1_ENST00000264649.6_Intron|ATP6V0A1_ENST00000546249.1_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	708					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTTCCGAGGACGAAGTGGTAA	0.527													False	0	False	17:40660601	0	T	40660601	C	T	40660601	2	4	88	1	0	0	0	0	0	0	0	1	1172	535	19	1		1	ATP6V0A1	17	40660601	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14186	40660601	40534609	16665	24377											
NAGLU	4669	broad.mit.edu	37	chr17	40695695	40695695	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaccagccccgccttccgCtacgacctgctggacctcac	8	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40695695C>A	ENST00000225927.2	+	6	1772	c.1671C>A	c.(1669-1671)cgC>cgA	p.R557R	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	557						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCGCCTTCCGCTACGACCTGC	0.607													False	0	False	17:40695695	0	A	40695695	C	A	40695695	2	1	88	1	0	0	0	0	0	0	0	1	10210	784	28	3		3	NAGLU	17	40695695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35094	40695695	40499515	16666	24378											
NAGLU	4669	broad.mit.edu	37	chr17	40695928	40695928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtcagtgaggccgaggCcgatttctacgagcagaaca	14	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40695928C>T	ENST00000225927.2	+	6	2005	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	635						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GAGGCCGAGGCCGATTTCTAC	0.642													False	0	True	17:40695928	0	T	40695928	C	T	40695928	3	4	88	1	0	0	0	0	1	0	0	0	10210	739	26	2	1926	2	NAGLU	17	40695928	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233	40695928	40499282	16667	24379											
NAGLU	4669	broad.mit.edu	37	chr17	40696083	40696083	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcgctggttgacagtgtgGcccagggcatccctttccaa	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40696083G>T	ENST00000225927.2	+	6	2160	c.2059G>T	c.(2059-2061)Gcc>Tcc	p.A687S	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	687						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TGACAGTGTGGCCCAGGGCAT	0.587													False	0	True	17:40696083	0	T	40696083	G	T	40696083	3	4	88	1	0	0	0	0	1	0	0	0	10210	1203	42	3	2081	3	NAGLU	17	40696083	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155	40696083	40499127	16668	24380											
HSD17B1	3292	broad.mit.edu	37	chr17	40706547	40706547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctaccaatacctcgccCacagcaagcaagtctttcgc	6	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40706547C>T	ENST00000585807.1	+	5	4384	c.664C>T	c.(664-666)Cac>Tac	p.H222Y	HSD17B1_ENST00000225929.5_Missense_Mutation_p.H223Y|RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	222					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	ATACCTCGCCCACAGCAAGCA	0.657													False	0	True	17:40706547	0	T	40706547	C	T	40706547	3	4	88	1	0	0	0	0	1	0	0	0	7425	594	21	2	682	2	HSD17B1	17	40706547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10464	40706547	40488663	16669	24381											
COASY	80347	broad.mit.edu	37	chr17	40714637	40714637	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactgtccgcaggcctgggCagcatggccgtattccggtc	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40714637C>T	ENST00000590958.1	+	3	209	c.84C>T	c.(82-84)ggC>ggT	p.G28G	COASY_ENST00000449624.1_Intron|COASY_ENST00000393818.2_5'UTR|COASY_ENST00000421097.2_5'UTR|COASY_ENST00000420359.1_5'UTR			Q13057	COASY_HUMAN	CoA synthase	0					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGGCCTGGGCAGCATGGCCG	0.701													False	0	True	17:40714637	0	T	40714637	C	T	40714637	2	4	88	1	0	0	0	0	0	0	0	1	3675	697	25	2		2	COASY	17	40714637	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8090	40714637	40480573	16670	24382											
TUBG1	7283	broad.mit.edu	37	chr17	40766320	40766320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtcctggatgtcatgaggCggctgctgcagcccaagaac	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40766320C>T	ENST00000251413.3	+	9	948	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	296					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TGTCATGAGGCGGCTGCTGCA	0.622													False	0	False	17:40766320	0	T	40766320	C	T	40766320	3	4	88	1	0	0	0	0	1	0	0	0	16848	759	27	1	920	1	TUBG1	17	40766320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51683	40766320	40428890	16671	24383											
PLEKHH3	79990	broad.mit.edu	37	chr17	40823517	40823517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcgcgtccggcccagcGctttccggatgaagcgcgca	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40823517G>A	ENST00000293349.6	-	8	1566	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.A379V|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.A379V			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	379	MyTH4.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCGGCCCAGCGCTTTCCGGAT	0.647													False	0	False	17:40823517	0	A	40823517	G	A	40823517	3	1	88	1	0	0	0	0	1	0	0	0	12147	1087	38	1	1269	1	PLEKHH3	17	40823517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57197	40823517	40371693	16672	24384											
CCR10	2826	broad.mit.edu	37	chr17	40831869	40831869	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatccagcagcagggcgaggCtgtagggcagctgcagcacc	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40831869C>A	ENST00000591765.1	-	2	1510	c.125G>T	c.(124-126)aGc>aTc	p.S42I	CCR10_ENST00000332438.4_Missense_Mutation_p.S264I			P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	264						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CAGGGCGAGGCTGTAGGGCAG	0.721													False	0	False	17:40831869	0	A	40831869	C	A	40831869	3	1	88	1	0	0	0	0	1	0	0	0	2963	797	28	3	301	3	CCR10	17	40831869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8352	40831869	40363341	16673	24385											
CNTNAP1	8506	broad.mit.edu	37	chr17	40837321	40837321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcctgtgggacgtgttcGccttcagcttcaagaccgag	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40837321G>A	ENST00000264638.4	+	5	815	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	200					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGACGTGTTCGCCTTCAGCTT	0.642													False	0	False	17:40837321	0	A	40837321	G	A	40837321	3	1	88	1	0	0	0	0	1	0	0	0	3669	1087	38	1	616	1	CNTNAP1	17	40837321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5452	40837321	40357889	16674	24386											
VPS25	84313	broad.mit.edu	37	chr17	40926673	40926673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttaaaccaggaaagcttcCtgtggagtcgatccagattg	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40926673C>A	ENST00000253794.2	+	3	249	c.209C>A	c.(208-210)cCt>cAt	p.P70H		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	70					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		GGAAAGCTTCCTGTGGAGTCG	0.453													False	0	False	17:40926673	0	A	40926673	C	A	40926673	3	1	88	1	0	0	0	0	1	0	0	0	17280	681	24	3	219	3	VPS25	17	40926673	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89352	40926673	40268537	16675	24387											
WNK4	65266	broad.mit.edu	37	chr17	40936549	40936549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccacctctgagtacccGtactccgagtgccagaatgc	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40936549G>A	ENST00000246914.5	+	4	1143	c.1122G>A	c.(1120-1122)ccG>ccA	p.P374P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	374	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTGAGTACCCGTACTCCGAGT	0.582													False	0	True	17:40936549	0	A	40936549	G	A	40936549	2	1	88	1	0	0	0	0	0	0	0	1	17464	1132	40	1		1	WNK4	17	40936549	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9876	40936549	40258661	16676	24388											
WNK4	65266	broad.mit.edu	37	chr17	40939316	40939316	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggctctgggcttggtctgTgaagccgattaccagccagt	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40939316T>C	ENST00000246914.5	+	7	1518	c.1497T>C	c.(1495-1497)tgT>tgC	p.C499C	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	499					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTTGGTCTGTGAAGCCGATT	0.577													False	0	False	17:40939316	0	C	40939316	T	C	40939316	2	2	88	1	0	0	0	0	0	0	0	1	17464	1702	59	4		4	WNK4	17	40939316	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2767	40939316	40255894	16677	24389											
WNK4	65266	broad.mit.edu	37	chr17	40940387	40940387	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggagacccccagggaggaatCtccggcgcagaccccgatcc	13	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40940387C>A	ENST00000246914.5	+	10	2023	c.2002C>A	c.(2002-2004)Ctc>Atc	p.L668I	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	668					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGGAGGAATCTCCGGCGCAG	0.567													False	0	False	17:40940387	0	A	40940387	C	A	40940387	3	1	88	1	0	0	0	0	1	0	0	0	17464	913	32	3	2040	3	WNK4	17	40940387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1071	40940387	40254823	16678	24390											
WNK4	65266	broad.mit.edu	37	chr17	40947651	40947651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccctacagagggaaagCcgcagcttgttgggcgtttc	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40947651C>T	ENST00000246914.5	+	16	3052	c.3031C>T	c.(3031-3033)Ccg>Tcg	p.P1011S		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1011					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGAGGGAAAGCCGCAGCTTGT	0.557													False	0	False	17:40947651	0	T	40947651	C	T	40947651	3	4	88	1	0	0	0	0	1	0	0	0	17464	739	26	2	3093	2	WNK4	17	40947651	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7264	40947651	40247559	16679	24391											
CNTD1	124817	broad.mit.edu	37	chr17	40951182	40951182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagacgccctgcttcacttgGcccagcagaatgagcaagca	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40951182G>T	ENST00000588408.1	+	1	373	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	CNTD1_ENST00000588527.1_Intron	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	33	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTTCACTTGGCCCAGCAGAA	0.632													False	0	True	17:40951182	0	T	40951182	G	T	40951182	3	4	88	1	0	0	0	0	1	0	0	0	3658	1203	42	3	99	3	CNTD1	17	40951182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3531	40951182	40244028	16680	24392											
CNTD1	124817	broad.mit.edu	37	chr17	40958824	40958824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgagaactccactcccaGtcagctgcaagggtaagaca	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40958824G>A	ENST00000588408.1	+	5	989	c.713G>A	c.(712-714)aGt>aAt	p.S238N	CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588527.1_Missense_Mutation_p.S155N	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	238										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCCACTCCCAGTCAGCTGCAA	0.517													False	0	False	17:40958824	0	A	40958824	G	A	40958824	3	1	88	1	0	0	0	0	1	0	0	0	3658	1029	36	2	731	2	CNTD1	17	40958824	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7642	40958824	40236386	16681	24393											
AOC2	314	broad.mit.edu	37	chr17	40997013	40997013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgggaggcactggccatcGtcctctttggtggacaaccc	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40997013G>A	ENST00000253799.3	+	1	397	c.370G>A	c.(370-372)Gtc>Atc	p.V124I	AOC2_ENST00000452774.2_Missense_Mutation_p.V124I	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	124					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACTGGCCATCGTCCTCTTTGG	0.667													False	0	False	17:40997013	0	A	40997013	G	A	40997013	3	1	88	1	0	0	0	0	1	0	0	0	729	1145	40	1	372	1	AOC2	17	40997013	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38189	40997013	40198197	16682	24394											
AOC3	8639	broad.mit.edu	37	chr17	41004414	41004414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcccaaggatctttgacGttcgcttccaaggagaaaga	12	9	1	3	rs150410758	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41004414G>A	ENST00000308423.2	+	1	1214	c.1054G>A	c.(1054-1056)Gtt>Att	p.V352I		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	352					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GATCTTTGACGTTCGCTTCCA	0.542													False	0	False	17:41004414	0	A	41004414	G	A	41004414	3	1	88	1	0	0	0	0	1	0	0	0	730	1145	40	1	1056	1	AOC3	17	41004414	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7401	41004414	40190796	16683	24395											
AOC3	8639	broad.mit.edu	37	chr17	41004951	41004951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccacttcaaggtggatctgGatgtagcaggtaagacattt	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41004951G>A	ENST00000308423.2	+	1	1751	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	531					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGTGGATCTGGATGTAGCAGG	0.502													False	0	False	17:41004951	0	A	41004951	G	A	41004951	3	1	88	1	0	0	0	0	1	0	0	0	730	1174	41	2	1593	2	AOC3	17	41004951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	537	41004951	40190259	16684	24396											
RUNDC1	146923	broad.mit.edu	37	chr17	41141438	41141438	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccactgaagagcttcgTcagcgtgtagatgcagcagt	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41141438T>C	ENST00000361677.1	+	3	750	c.738T>C	c.(736-738)cgT>cgC	p.R246R		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	246										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AAGAGCTTCGTCAGCGTGTAG	0.458													False	0	False	17:41141438	0	C	41141438	T	C	41141438	2	2	88	1	0	0	0	0	0	0	0	1	13821	1654	58	4		4	RUNDC1	17	41141438	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	136487	41141438	40053772	16685	24397											
RUNDC1	146923	broad.mit.edu	37	chr17	41143294	41143294	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agccttctcctcggccccagAggccatgcacccgtgggagc	12	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41143294A>T	ENST00000361677.1	+	5	1415	c.1403A>T	c.(1402-1404)gAg>gTg	p.E468V		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	468	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TCGGCCCCAGAGGCCATGCAC	0.587													False	0	False	17:41143294	0	T	41143294	A	T	41143294	3	4	88	1	0	0	0	0	1	0	0	0	13821	304	11	5	1421	5	RUNDC1	17	41143294	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1856	41143294	40051916	16686	24398											
VAT1	10493	broad.mit.edu	37	chr17	41169881	41169881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgacgactttgcccatgGgtttcaggaggttgtagccc	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41169881G>T	ENST00000355653.3	-	4	928	c.833C>A	c.(832-834)cCc>cAc	p.P278H	VAT1_ENST00000587173.1_Missense_Mutation_p.P210H|VAT1_ENST00000420567.3_Missense_Mutation_p.P144H	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	278						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTTGCCCATGGGTTTCAGGAG	0.547													False	0	True	17:41169881	0	T	41169881	G	T	41169881	3	4	88	1	0	0	0	0	1	0	0	0	17213	1232	43	3	360	3	VAT1	17	41169881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26587	41169881	40025329	16687	24399											
BRCA1	672	broad.mit.edu	37	chr17	41223162	41223162	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagatggtatgttgccaAcacgagctgactctggggct	13	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41223162A>G	ENST00000309486.4	-	14	4908	c.3881T>C	c.(3880-3882)gTt>gCt	p.V1294A	BRCA1_ENST00000468300.1_Missense_Mutation_p.V486A|BRCA1_ENST00000591534.1_Missense_Mutation_p.V81A|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.V486A|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.V407A|BRCA1_ENST00000471181.2_Missense_Mutation_p.V1611A|BRCA1_ENST00000357654.3_Missense_Mutation_p.V1590A|BRCA1_ENST00000493795.1_Missense_Mutation_p.V1543A|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.V448A	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1590					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TATGTTGCCAACACGAGCTGA	0.488			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			False	0	False	17:41223162	0	G	41223162	A	G	41223162	3	3	88	1	0	0	0	0	1	0	0	0	1505	43	2	4	858	4	BRCA1	17	41223162	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53281	41223162	39972048	16688	24400											
BRCA1	672	broad.mit.edu	37	chr17	41246608	41246608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgttatgttggctccttgCtaagccaggctgtttgcttt	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41246608C>T	ENST00000309486.4	-	9	1079	c.52G>A	c.(52-54)Gca>Aca	p.A18T	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.A314T|BRCA1_ENST00000354071.3_Missense_Mutation_p.A314T|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.A314T|BRCA1_ENST00000357654.3_Missense_Mutation_p.A314T|BRCA1_ENST00000493795.1_Missense_Mutation_p.A267T|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	314			M -> T (in BC; unknown pathological significance).		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGCTCCTTGCTAAGCCAGGC	0.418			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			False	0	False	17:41246608	0	T	41246608	C	T	41246608	3	4	88	1	0	0	0	0	1	0	0	0	1505	797	28	2	4777	2	BRCA1	17	41246608	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23446	41246608	39948602	16689	24401											
ARL4D	379	broad.mit.edu	37	chr17	41477126	41477126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccacttgactgagatggCgcccactgcctcctccttct	8	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41477126C>T	ENST00000320033.4	+	2	233	c.26C>T	c.(25-27)gCg>gTg	p.A9V		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	9					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGAGATGGCGCCCACTGCC	0.572													False	0	False	17:41477126	0	T	41477126	C	T	41477126	3	4	88	1	0	0	0	0	1	0	0	0	942	768	27	1	28	1	ARL4D	17	41477126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230518	41477126	39718084	16690	24402											
ARL4D	379	broad.mit.edu	37	chr17	41477547	41477547	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgagcgctgctgaggtggaGaagaggctggcagtccgaga	18	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41477547G>T	ENST00000320033.4	+	2	654	c.447G>T	c.(445-447)gaG>gaT	p.E149D		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	149					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CTGAGGTGGAGAAGAGGCTGG	0.672													False	0	False	17:41477547	0	T	41477547	G	T	41477547	3	4	88	1	0	0	0	0	1	0	0	0	942	933	33	3	449	3	ARL4D	17	41477547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421	41477547	39717663	16691	24403											
DHX8	1659	broad.mit.edu	37	chr17	41585306	41585306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatatccagtggaaataCtgtacacaaaggaacctgag	9	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41585306C>T	ENST00000262415.3	+	15	2311	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	DHX8_ENST00000540306.1_Silent_p.L747L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	747						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGTGGAAATACTGTACACAAA	0.428													False	0	False	17:41585306	0	T	41585306	C	T	41585306	2	4	88	1	0	0	0	0	0	0	0	1	4545	564	20	2		2	DHX8	17	41585306	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107759	41585306	39609904	16692	24404											
DHX8	1659	broad.mit.edu	37	chr17	41599414	41599414	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttttgtcctatcttgataGacacaagctggatgttgttt	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41599414G>T	ENST00000262415.3	+	22	3335		c.e22-1		DHX8_ENST00000540306.1_Splice_Site	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8							catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TATCTTGATAGACACAAGCTG	0.498													False	0	False	17:41599414	0	T	41599414	G	T	41599414	5	4	88	1	0	0	0	0	0	0	1	0	4545	956	33	3	3349	3	DHX8	17	41599414	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14108	41599414	39595796	16693	24405											
ETV4	2118	broad.mit.edu	37	chr17	41607026	41607026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcgaaatgcaccgaccCcttcctgcttgatgtctcct	6	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41607026C>T	ENST00000319349.5	-	11	1272	c.974G>A	c.(973-975)gGg>gAg	p.G325E	ETV4_ENST00000393664.2_Missense_Mutation_p.G325E|ETV4_ENST00000586826.1_Missense_Mutation_p.G48E|ETV4_ENST00000591713.1_Missense_Mutation_p.G325E|ETV4_ENST00000545089.1_Missense_Mutation_p.G271E|ETV4_ENST00000545954.1_Missense_Mutation_p.G286E|ETV4_ENST00000538265.1_Missense_Mutation_p.G286E	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	325					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TGCACCGACCCCTTCCTGCTT	0.597			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"								False	0	True	17:41607026	0	T	41607026	C	T	41607026	3	4	88	1	0	0	0	0	1	0	0	0	5313	623	22	2	492	2	ETV4	17	41607026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7612	41607026	39588184	16694	24406											
MEOX1	4222	broad.mit.edu	37	chr17	41720868	41720868	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggcgcacctggcgctcagaGaggtccaggtttaccgcaat	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41720868G>T	ENST00000318579.4	-	2	1049	c.630C>A	c.(628-630)ctC>ctA	p.L210L	MEOX1_ENST00000393661.2_Silent_p.L95L|MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000329168.3_Intron	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	210						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GGCGCTCAGAGAGGTCCAGGT	0.607													False	0	True	17:41720868	0	T	41720868	G	T	41720868	2	4	88	1	0	0	0	0	0	0	0	1	9540	929	33	3		3	MEOX1	17	41720868	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113842	41720868	39474342	16695	24407											
MEOX1	4222	broad.mit.edu	37	chr17	41738457	41738457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactctcctttctccgcctgGatgatttcttctctgtctca	5	14	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41738457G>A	ENST00000318579.4	-	1	865	c.446C>T	c.(445-447)tCc>tTc	p.S149F	MEOX1_ENST00000393661.2_Missense_Mutation_p.S34F|MEOX1_ENST00000549132.1_Missense_Mutation_p.P120S|MEOX1_ENST00000329168.3_Missense_Mutation_p.S149F	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	149						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		TCTCCGCCTGGATGATTTCTT	0.577													False	0	False	17:41738457	0	A	41738457	G	A	41738457	3	1	88	1	0	0	0	0	1	0	0	0	9540	1174	41	2	330	2	MEOX1	17	41738457	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17589	41738457	39456753	16696	24408											
MPP2	4355	broad.mit.edu	37	chr17	41958122	41958122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgttcttcaggctgcgccGtcccacgccctgagccccaa	9	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41958122G>A	ENST00000269095.4	-	10	1391	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	MPP2_ENST00000536246.1_Missense_Mutation_p.R352W|MPP2_ENST00000523501.1_Missense_Mutation_p.R352W|MPP2_ENST00000518766.1_Missense_Mutation_p.R408W|MPP2_ENST00000520305.1_Missense_Mutation_p.R224W|MPP2_ENST00000461854.1_Missense_Mutation_p.R387W|MPP2_ENST00000377184.3_Missense_Mutation_p.R380W	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	387					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGCTGCGCCGTCCCACGCCC	0.607											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:41958122	0	A	41958122	G	A	41958122	3	1	88	1	0	0	0	0	1	0	0	0	9801	1144	40	1	587	1	MPP2	17	41958122	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219665	41958122	39237088	16697	24409											
TMEM101	84336	broad.mit.edu	37	chr17	42090467	42090467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtacagctccccagcaccGctggccaacacaagaaagcc	9	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42090467G>A	ENST00000589334.1	-	4	690	c.375C>T	c.(373-375)agC>agT	p.S125S	TMEM101_ENST00000206380.3_Silent_p.S125S|TMEM101_ENST00000542039.1_Silent_p.S67S|TMEM101_ENST00000587529.1_Silent_p.S125S			Q96IK0	TM101_HUMAN	transmembrane protein 101	125					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCCCAGCACCGCTGGCCAACA	0.622													False	0	False	17:42090467	0	A	42090467	G	A	42090467	2	1	88	1	0	0	0	0	0	0	0	1	16098	1078	38	1		1	TMEM101	17	42090467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132345	42090467	39104743	16698	24410											
G6PC3	92579	broad.mit.edu	37	chr17	42153230	42153230	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccagaagatagcctgccTtgtgctggccatggggctgc	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42153230T>G	ENST00000269097.4	+	6	1091	c.860T>G	c.(859-861)cTt>cGt	p.L287R		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	287					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATAGCCTGCCTTGTGCTGGCC	0.622													False	0	True	17:42153230	0	G	42153230	T	G	42153230	3	3	88	1	0	0	0	0	1	0	0	0	6187	1609	56	4	882	4	G6PC3	17	42153230	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62763	42153230	39041980	16699	24411											
HDAC5	10014	broad.mit.edu	37	chr17	42161219	42161219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacatcttctggctgatgGggcctgcatggaagaggaat	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42161219G>A	ENST00000225983.6	-	17	2635	c.2312C>T	c.(2311-2313)cCc>cTc	p.P771L	HDAC5_ENST00000393622.2_Missense_Mutation_p.P770L|HDAC5_ENST00000586802.1_Missense_Mutation_p.P770L|HDAC5_ENST00000336057.5_Missense_Mutation_p.P685L			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	770	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CTGGCTGATGGGGCCTGCATG	0.597													False	0	True	17:42161219	0	A	42161219	G	A	42161219	3	1	88	1	0	0	0	0	1	0	0	0	7057	1232	43	2	1103	2	HDAC5	17	42161219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7989	42161219	39033991	16700	24412											
TMUB2	79089	broad.mit.edu	37	chr17	42266863	42266863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcacctgcctccctcccaGccctggcctcatcactgtgc	7	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42266863G>A	ENST00000319511.6	+	2	1099	c.449G>A	c.(448-450)aGc>aAc	p.S150N	TMUB2_ENST00000589856.1_Missense_Mutation_p.S150N|TMUB2_ENST00000446571.3_Missense_Mutation_p.S113N|TMUB2_ENST00000357984.3_Missense_Mutation_p.S150N|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.S150N|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000538716.2_Missense_Mutation_p.S170N|TMUB2_ENST00000587989.1_Missense_Mutation_p.S170N|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000589184.1_Intron	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	170						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTCCCTCCCAGCCCTGGCCTC	0.602													False	0	True	17:42266863	0	A	42266863	G	A	42266863	3	1	88	1	0	0	0	0	1	0	0	0	16347	971	34	2	515	2	TMUB2	17	42266863	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105644	42266863	38928347	16701	24413											
ATXN7L3	56970	broad.mit.edu	37	chr17	42273420	42273420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatttttgtgttttaatgActtggatcttcgaggggaat	10	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42273420A>G	ENST00000389384.4	-	6	813	c.505T>C	c.(505-507)Tca>Cca	p.S169P	ATXN7L3_ENST00000454077.2_Missense_Mutation_p.S176P|ATXN7L3_ENST00000593073.1_Intron	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	169					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGTTTTAATGACTTGGATCTT	0.537													False	0	False	17:42273420	0	G	42273420	A	G	42273420	3	3	88	1	0	0	0	0	1	0	0	0	1222	275	10	4	566	4	ATXN7L3	17	42273420	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6557	42273420	38921790	16702	24414											
ATXN7L3	56970	broad.mit.edu	37	chr17	42273431	42273431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttaatgacttggatcttCgaggggaattggggttctgg	15	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42273431C>T	ENST00000389384.4	-	6	802	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	ATXN7L3_ENST00000454077.2_Missense_Mutation_p.R172Q|ATXN7L3_ENST00000593073.1_Intron	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	165					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTGGATCTTCGAGGGGAATT	0.498													False	0	False	17:42273431	0	T	42273431	C	T	42273431	3	4	88	1	0	0	0	0	1	0	0	0	1222	884	31	1	577	1	ATXN7L3	17	42273431	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11	42273431	38921779	16703	24415											
UBTF	7343	broad.mit.edu	37	chr17	42287719	42287719	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtagtcgccgataacgctCtgttgccagatctcctcagc	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42287719C>A	ENST00000302904.4	-	14	1974	c.1482G>T	c.(1480-1482)caG>caT	p.Q494H	UBTF_ENST00000436088.1_Missense_Mutation_p.Q494H|UBTF_ENST00000343638.5_Missense_Mutation_p.Q457H|UBTF_ENST00000393606.3_Missense_Mutation_p.Q457H|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.Q457H|UBTF_ENST00000529383.1_Missense_Mutation_p.Q494H|UBTF_ENST00000527034.1_Missense_Mutation_p.Q457H|UBTF_ENST00000526094.1_Missense_Mutation_p.Q457H			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	494					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGATAACGCTCTGTTGCCAGA	0.652											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:42287719	0	A	42287719	C	A	42287719	3	1	88	1	0	0	0	0	1	0	0	0	16993	912	32	3	844	3	UBTF	17	42287719	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14288	42287719	38907491	16704	24416											
UBTF	7343	broad.mit.edu	37	chr17	42295570	42295570	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggggcggccatttccaggtCtgtggggcagtcggcttctc	17	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42295570C>T	ENST00000302904.4	-	2	520	c.28G>A	c.(28-30)Gac>Aac	p.D10N	UBTF_ENST00000436088.1_Missense_Mutation_p.D10N|UBTF_ENST00000343638.5_Missense_Mutation_p.D10N|UBTF_ENST00000393606.3_Missense_Mutation_p.D10N|UBTF_ENST00000533177.1_Missense_Mutation_p.D10N|UBTF_ENST00000529383.1_Missense_Mutation_p.D10N|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000527034.1_Missense_Mutation_p.D10N|UBTF_ENST00000526094.1_Missense_Mutation_p.D10N			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	10					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATTTCCAGGTCTGTGGGGCAG	0.652											OREG0024457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:42295570	0	T	42295570	C	T	42295570	3	4	88	1	0	0	0	0	1	0	0	0	16993	913	32	2	2346	2	UBTF	17	42295570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7851	42295570	38899640	16705	24417											
SLC25A39	51629	broad.mit.edu	37	chr17	42398522	42398522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttcgaacacaggcacccaGctcccggtacgacacatgct	9	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42398522G>T	ENST00000225308.8	-	8	745	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	SLC25A39_ENST00000590194.1_Missense_Mutation_p.L191M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.L67M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.L176M|SLC25A39_ENST00000377095.5_Missense_Mutation_p.L199M	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	199					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAGGCACCCAGCTCCCGGTAC	0.632													False	0	False	17:42398522	0	T	42398522	G	T	42398522	3	4	88	1	0	0	0	0	1	0	0	0	14583	962	34	3	504	3	SLC25A39	17	42398522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102952	42398522	38796688	16706	24418											
SLC25A39	51629	broad.mit.edu	37	chr17	42398537	42398537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagctcccggtacgacaCatgctgagcctgcagctttg	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42398537C>T	ENST00000225308.8	-	8	730	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	SLC25A39_ENST00000590194.1_Missense_Mutation_p.V186M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.V62M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V171M|SLC25A39_ENST00000377095.5_Missense_Mutation_p.V194M	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	194					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGGTACGACACATGCTGAGCC	0.627													False	0	False	17:42398537	0	T	42398537	C	T	42398537	3	4	88	1	0	0	0	0	1	0	0	0	14583	478	17	2	519	2	SLC25A39	17	42398537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	42398537	38796673	16707	24419											
GRN	2896	broad.mit.edu	37	chr17	42429421	42429421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagcactgctgcccccaGggctacacgtgtgtagctga	11	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42429421G>T	ENST00000053867.3	+	11	1280	c.1218G>T	c.(1216-1218)caG>caT	p.Q406H	GRN_ENST00000589265.1_Missense_Mutation_p.Q249H	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	406					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCTGCCCCCAGGGCTACACGT	0.657													False	0	True	17:42429421	0	T	42429421	G	T	42429421	3	4	88	1	0	0	0	0	1	0	0	0	6851	991	35	3	1256	3	GRN	17	42429421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30884	42429421	38765789	16708	24420											
GRN	2896	broad.mit.edu	37	chr17	42429451	42429451	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtagctgaggggcagtgTcagcgaggaagcgagatcgt	18	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42429451T>C	ENST00000053867.3	+	11	1310	c.1248T>C	c.(1246-1248)tgT>tgC	p.C416C	GRN_ENST00000589265.1_Silent_p.C259C	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	416					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGGGGCAGTGTCAGCGAGGAA	0.642													False	0	False	17:42429451	0	C	42429451	T	C	42429451	2	2	88	1	0	0	0	0	0	0	0	1	6851	1673	58	4		4	GRN	17	42429451	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30	42429451	38765759	16709	24421											
GPATCH8	23131	broad.mit.edu	37	chr17	42476826	42476826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctgaagaggcatctgaGctacttgagtaagaacgccg	13	8	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42476826G>A	ENST00000434000.1	-	9	2667	c.2385C>T	c.(2383-2385)agC>agT	p.S795S	GPATCH8_ENST00000591680.1_Silent_p.S873S			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	873						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGGCATCTGAGCTACTTGAGT	0.542													False	0	False	17:42476826	0	A	42476826	G	A	42476826	2	1	88	1	0	0	0	0	0	0	0	1	6640	962	34	2		2	GPATCH8	17	42476826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47375	42476826	38718384	16710	24422											
FZD2	2535	broad.mit.edu	37	chr17	42635747	42635747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcgaacctgcgcggcccGatggttccatgttcttctca	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42635747G>A	ENST00000315323.3	+	1	823	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	231					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCGCGGCCCGATGGTTCCAT	0.617													False	0	True	17:42635747	0	A	42635747	G	A	42635747	3	1	88	1	0	0	0	0	1	0	0	0	6172	1058	37	1	693	1	FZD2	17	42635747	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158921	42635747	38559463	16711	24423											
FZD2	2535	broad.mit.edu	37	chr17	42636670	42636670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggcatcacgtcgggcttctgGatctggtcgggcaagacgct	15	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42636670G>T	ENST00000315323.3	+	1	1746	c.1614G>T	c.(1612-1614)tgG>tgT	p.W538C		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	538					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGGGCTTCTGGATCTGGTCGG	0.627													False	0	False	17:42636670	0	T	42636670	G	T	42636670	3	4	88	1	0	0	0	0	1	0	0	0	6172	1183	41	3	1616	3	FZD2	17	42636670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	923	42636670	38558540	16712	24424											
DBF4B	80174	broad.mit.edu	37	chr17	42800334	42800334	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaagtccttttacttggatCtgcctgctggcaagaatctc	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42800334C>A	ENST00000315005.3	+	3	307	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	DBF4B_ENST00000398338.3_Missense_Mutation_p.L57M|DBF4B_ENST00000393547.2_Missense_Mutation_p.L57M|DBF4B_ENST00000526915.1_3'UTR	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	57	BRCT.				cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TTACTTGGATCTGCCTGCTGG	0.502													False	0	True	17:42800334	0	A	42800334	C	A	42800334	3	1	88	1	0	0	0	0	1	0	0	0	4274	912	32	3	179	3	DBF4B	17	42800334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163664	42800334	38394876	16713	24425											
DBF4B	80174	broad.mit.edu	37	chr17	42824842	42824842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatcattgctcagctcagCcacagctttgcagacatccc	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42824842C>T	ENST00000315005.3	+	12	1161	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	DBF4B_ENST00000393547.2_Silent_p.S341S	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	341					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CTCAGCTCAGCCACAGCTTTG	0.602													False	0	True	17:42824842	0	T	42824842	C	T	42824842	2	4	88	1	0	0	0	0	0	0	0	1	4274	738	26	2		2	DBF4B	17	42824842	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24508	42824842	38370368	16714	24426											
DBF4B	80174	broad.mit.edu	37	chr17	42828513	42828513	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtacccttgccttcccctcCtatctcaatgatcatgacct	4	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42828513C>A	ENST00000315005.3	+	14	1878	c.1740C>A	c.(1738-1740)tcC>tcA	p.S580S	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	580					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTTCCCCTCCTATCTCAATG	0.562													False	0	False	17:42828513	0	A	42828513	C	A	42828513	2	1	88	1	0	0	0	0	0	0	0	1	4274	668	24	3		3	DBF4B	17	42828513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3671	42828513	38366697	16715	24427											
GJC1	10052	broad.mit.edu	37	chr17	42882639	42882639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctcaaacacggtccttgCcagcaactgcagcacataga	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42882639C>A	ENST00000426548.1	-	3	816	c.547G>T	c.(547-549)Gca>Tca	p.A183S	GJC1_ENST00000590758.1_Missense_Mutation_p.A183S|GJC1_ENST00000330514.4_Missense_Mutation_p.A183S|GJC1_ENST00000592524.1_Missense_Mutation_p.A183S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	183					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				ACGGTCCTTGCCAGCAACTGC	0.483													False	0	False	17:42882639	0	A	42882639	C	A	42882639	3	1	88	1	0	0	0	0	1	0	0	0	6459	739	26	3	647	3	GJC1	17	42882639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54126	42882639	38312571	16716	24428											
EFTUD2	9343	broad.mit.edu	37	chr17	42932031	42932031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatcgtacttggtctggaAgaactctcccagcttcttcc	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42932031A>G	ENST00000426333.2	-	22	2449	c.2152T>C	c.(2152-2154)Ttc>Ctc	p.F718L	EFTUD2_ENST00000402521.3_Missense_Mutation_p.F683L|EFTUD2_ENST00000591382.1_Missense_Mutation_p.F718L|EFTUD2_ENST00000592576.1_Missense_Mutation_p.F708L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	718						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTGGTCTGGAAGAACTCTCCC	0.577													False	0	False	17:42932031	0	G	42932031	A	G	42932031	3	3	88	1	0	0	0	0	1	0	0	0	4991	72	3	4	794	4	EFTUD2	17	42932031	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49392	42932031	38263179	16717	24429											
EFTUD2	9343	broad.mit.edu	37	chr17	42953350	42953350	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcgcagcttgtaataaGcatcagttggaggcagcttc	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42953350G>T	ENST00000426333.2	-	10	1118	c.821C>A	c.(820-822)gCt>gAt	p.A274D	EFTUD2_ENST00000402521.3_Missense_Mutation_p.A239D|EFTUD2_ENST00000591382.1_Missense_Mutation_p.A274D|EFTUD2_ENST00000592576.1_Missense_Mutation_p.A264D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	274						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTTGTAATAAGCATCAGTTGG	0.517													False	0	False	17:42953350	0	T	42953350	G	T	42953350	3	4	88	1	0	0	0	0	1	0	0	0	4991	971	34	3	2173	3	EFTUD2	17	42953350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21319	42953350	38241860	16718	24430											
EFTUD2	9343	broad.mit.edu	37	chr17	42957999	42957999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcacaggagtgcttttgAtgcctacacctctctgaaag	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42957999A>G	ENST00000426333.2	-	8	839	c.542T>C	c.(541-543)aTc>aCc	p.I181T	EFTUD2_ENST00000402521.3_Missense_Mutation_p.I146T|EFTUD2_ENST00000591382.1_Missense_Mutation_p.I181T|EFTUD2_ENST00000592576.1_Missense_Mutation_p.I171T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	181						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AGTGCTTTTGATGCCTACACC	0.443													False	0	False	17:42957999	0	G	42957999	A	G	42957999	3	3	88	1	0	0	0	0	1	0	0	0	4991	333	12	4	2460	4	EFTUD2	17	42957999	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4649	42957999	38237211	16719	24431											
EFTUD2	9343	broad.mit.edu	37	chr17	42971886	42971886	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcatcatataagtcggtatCcatgatgctaaaattcaagg	7	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42971886C>A	ENST00000426333.2	-	2	301	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	EFTUD2_ENST00000402521.3_Intron|EFTUD2_ENST00000591382.1_Missense_Mutation_p.D2Y|EFTUD2_ENST00000592576.1_Missense_Mutation_p.D2Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	2						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AAGTCGGTATCCATGATGCTA	0.403													False	0	False	17:42971886	0	A	42971886	C	A	42971886	3	1	88	1	0	0	0	0	1	0	0	0	4991	855	30	3	3022	3	EFTUD2	17	42971886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13887	42971886	38223324	16720	24432											
GFAP	2670	broad.mit.edu	37	chr17	42985496	42985496	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaggtggccttctgacacaGacttggtgtccaggctggtt	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42985496G>T	ENST00000253408.5	-	8	1258	c.1193C>A	c.(1192-1194)tCt>tAt	p.S398Y	GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	398	Tail.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.S398C(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTCTGACACAGACTTGGTGTC	0.592													False	0	False	17:42985496	0	T	42985496	G	T	42985496	3	4	88	1	0	0	0	0	1	0	0	0	6382	942	33	3	113	3	GFAP	17	42985496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13610	42985496	38209714	16721	24433											
GFAP	2670	broad.mit.edu	37	chr17	42990750	42990750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcttggccacgtcaagctCcacatggacctgctgtcggg	13	13	1	0	rs56679084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42990750C>T	ENST00000253408.5	-	4	732	c.667G>A	c.(667-669)Gag>Aag	p.E223K	GFAP_ENST00000435360.2_Missense_Mutation_p.E223K|GFAP_ENST00000586793.1_Missense_Mutation_p.E223K|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	223	Linker 12.|Rod.		E -> Q (in ALEXD; adult form; dbSNP:rs56679084).			cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ACGTCAAGCTCCACATGGACC	0.612													False	0	False	17:42990750	0	T	42990750	C	T	42990750	3	4	88	1	0	0	0	0	1	0	0	0	6382	864	30	2	784	2	GFAP	17	42990750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5254	42990750	38204460	16722	24434											
GFAP	2670	broad.mit.edu	37	chr17	42992761	42992761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaggcgggtgccaggacCcagacggcggccaggagcca	19	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42992761C>T	ENST00000253408.5	-	1	159	c.94G>A	c.(94-96)Ggt>Agt	p.G32S	GFAP_ENST00000586793.1_Missense_Mutation_p.G32S|GFAP_ENST00000435360.2_Missense_Mutation_p.G32S|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	32	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GTGCCAGGACCCAGACGGCGG	0.672													False	0	True	17:42992761	0	T	42992761	C	T	42992761	3	4	88	1	0	0	0	0	1	0	0	0	6382	623	22	2	1369	2	GFAP	17	42992761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2011	42992761	38202449	16723	24435											
KIF18B	146909	broad.mit.edu	37	chr17	43005605	43005605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgactgtggctgggcaaaCgcgaggggaatggcaggggg	21	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43005605C>T	ENST00000587309.1	-	13	2124	c.2101G>A	c.(2101-2103)Gtt>Att	p.V701I	KIF18B_ENST00000590129.1_Missense_Mutation_p.V710I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V692I|KIF18B_ENST00000593135.1_Missense_Mutation_p.V689I|KIF18B_ENST00000438933.2_Missense_Mutation_p.V701I	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GCTGGGCAAACGCGAGGGGAA	0.652													False	0	True	17:43005605	0	T	43005605	C	T	43005605	3	4	88	1	0	0	0	0	1	0	0	0	8331	536	19	1	508	1	KIF18B	17	43005605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12844	43005605	38189605	16724	24436											
KIF18B	146909	broad.mit.edu	37	chr17	43013546	43013546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggggccatcatgggtgCcaccccatttcaggccaggg	13	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43013546C>T	ENST00000587309.1	-	2	190	c.167G>A	c.(166-168)gGc>gAc	p.G56D	KIF18B_ENST00000590129.1_Missense_Mutation_p.G65D|KIF18B_ENST00000339151.4_Missense_Mutation_p.G56D|KIF18B_ENST00000593135.1_Missense_Mutation_p.G56D|KIF18B_ENST00000438933.2_Missense_Mutation_p.G56D	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ATCATGGGTGCCACCCCATTT	0.617													False	0	False	17:43013546	0	T	43013546	C	T	43013546	3	4	88	1	0	0	0	0	1	0	0	0	8331	739	26	2	2459	2	KIF18B	17	43013546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7941	43013546	38181664	16725	24437											
KIF18B	146909	broad.mit.edu	37	chr17	43013726	43013726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccatcactgtggtgacaCctgggtgagacatggtggag	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43013726C>A	ENST00000590129.1	-	1	13	c.14G>T	c.(13-15)gGt>gTt	p.G5V	KIF18B_ENST00000339151.4_5'UTR|KIF18B_ENST00000587309.1_5'UTR|KIF18B_ENST00000593135.1_5'UTR|KIF18B_ENST00000438933.2_5'UTR					kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TGTGGTGACACCTGGGTGAGA	0.652													False	0	False	17:43013726	0	A	43013726	C	A	43013726	3	1	88	1	0	0	0	0	1	0	0	0	8331	521	18	3		3	KIF18B	17	43013726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180	43013726	38181484	16726	24438											
NMT1	4836	broad.mit.edu	37	chr17	43181223	43181223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctagacctcatgagcgaCgcccttgtcctcgccaaaat	7	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43181223C>T	ENST00000592782.1	+	11	1442	c.1311C>T	c.(1309-1311)gaC>gaT	p.D437D	NMT1_ENST00000258960.2_Silent_p.D437D			P30419	NMT1_HUMAN	N-myristoyltransferase 1	437					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCATGAGCGACGCCCTTGTCC	0.567													False	0	False	17:43181223	0	T	43181223	C	T	43181223	2	4	88	1	0	0	0	0	0	0	0	1	10571	535	19	1		1	NMT1	17	43181223	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167497	43181223	38013987	16727	24439											
HEXIM1	10614	broad.mit.edu	37	chr17	43227267	43227267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccaaatccgacgacaccaGcgatgacgacttcatggaag	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43227267G>T	ENST00000332499.2	+	1	2584	c.710G>T	c.(709-711)aGc>aTc	p.S237I		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	237	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACGACACCAGCGATGACGAC	0.617													False	0	False	17:43227267	0	T	43227267	G	T	43227267	3	4	88	1	0	0	0	0	1	0	0	0	7123	971	34	3	712	3	HEXIM1	17	43227267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46044	43227267	37967943	16728	24440											
FMNL1	752	broad.mit.edu	37	chr17	43311026	43311026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacaggtgggtgcaggAgttcctcaatgaagagaacc	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43311026A>G	ENST00000331495.3	+	5	749	c.413A>G	c.(412-414)gAg>gGg	p.E138G	FMNL1_ENST00000328118.3_Missense_Mutation_p.E138G|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	138	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGGGTGCAGGAGTTCCTCAAT	0.627													False	0	False	17:43311026	0	G	43311026	A	G	43311026	3	3	88	1	0	0	0	0	1	0	0	0	5991	304	11	4	431	4	FMNL1	17	43311026	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83759	43311026	37884184	16729	24441											
MAP3K14	9020	broad.mit.edu	37	chr17	43342620	43342620	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccattaagagactgtatttgGactttcacacctagaaggcg	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43342620G>A	ENST00000344686.2	-	0	2694				MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACTGTATTTGGACTTTCACAC	0.577													False	0	False	17:43342620	0	A	43342620	G	A	43342620	1	1	88	0	1	0	0	0	0	0	0	0	9315	1161	41	2		2	MAP3K14	17	43342620	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31594	43342620	37852590	16730	24442											
MAP3K14	9020	broad.mit.edu	37	chr17	43364233	43364233	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggtggtgcagtttccaCacgtggttcagacattgcaa	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43364233C>T	ENST00000344686.2	-	0	822							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCAGTTTCCACACGTGGTTCA	0.612													False	0	False	17:43364233	0	T	43364233	C	T	43364233	1	4	88	0	1	0	0	0	0	0	0	0	9315	478	17	2		2	MAP3K14	17	43364233	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21613	43364233	37830977	16731	24443											
ARHGAP27	201176	broad.mit.edu	37	chr17	43482416	43482416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagcccacgggagaataGtcctcctcggggtaactggt	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43482416G>A	ENST00000532038.1	-	3	657	c.522C>T	c.(520-522)gaC>gaT	p.D174D	ARHGAP27_ENST00000442348.1_Silent_p.D374D|ARHGAP27_ENST00000376922.2_Silent_p.D33D|ARHGAP27_ENST00000428638.1_Silent_p.D374D|ARHGAP27_ENST00000532891.2_Silent_p.D374D|ARHGAP27_ENST00000528384.1_Silent_p.D33D|ARHGAP27_ENST00000455881.1_Silent_p.D33D			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	374					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CGGGAGAATAGTCCTCCTCGG	0.627													False	0	False	17:43482416	0	A	43482416	G	A	43482416	2	1	88	1	0	0	0	0	0	0	0	1	878	1020	36	2		2	ARHGAP27	17	43482416	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118183	43482416	37712794	16732	24444											
ARHGAP27	201176	broad.mit.edu	37	chr17	43507638	43507638	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acacgtcccccaccacgtccGccgccatcgcagccgcggcg	10	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43507638G>T	ENST00000428638.1	-	1	7	c.8C>A	c.(7-9)gCg>gAg	p.A3E	ARHGAP27_ENST00000290470.3_Missense_Mutation_p.A3E|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.A3E|ARHGAP27_ENST00000528273.1_Missense_Mutation_p.A3E|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.A3E			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	3					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CACCACGTCCGCCGCCATCGC	0.692													False	0	False	17:43507638	0	T	43507638	G	T	43507638	3	4	88	1	0	0	0	0	1	0	0	0	878	1087	38	3		3	ARHGAP27	17	43507638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25222	43507638	37687572	16733	24445											
PLEKHM1	9842	broad.mit.edu	37	chr17	43531235	43531235	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggagggccgcgggctccgaGagcaggtctgagggagagag	21	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43531235G>A	ENST00000430334.3	-	7	2116	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.L572L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	661					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CGGGCTCCGAGAGCAGGTCTG	0.647													False	0	False	17:43531235	0	A	43531235	G	A	43531235	2	1	88	1	0	0	0	0	0	0	0	1	12149	929	33	2		2	PLEKHM1	17	43531235	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23597	43531235	37663975	16734	24446											
MAPT	4137	broad.mit.edu	37	chr17	44051802	44051802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccggcaagcaggctgccgCgcagccccacacggagatcc	12	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44051802C>T	ENST00000344290.5	+	4	594	c.272C>T	c.(271-273)gCg>gTg	p.A91V	MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A91V|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Missense_Mutation_p.A91V|MAPT_ENST00000431008.3_Missense_Mutation_p.A91V|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Missense_Mutation_p.A91V|MAPT_ENST00000535772.1_Missense_Mutation_p.A91V|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.A91V|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.A91V	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	91					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CAGGCTGCCGCGCAGCCCCAC	0.637													False	0	False	17:44051802	0	T	44051802	C	T	44051802	3	4	88	1	0	0	0	0	1	0	0	0	9364	768	27	1	282	1	MAPT	17	44051802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	520567	44051802	37143408	16735	24447											
MAPT	4137	broad.mit.edu	37	chr17	44060851	44060851	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccgcgacgtcgatgagtcCtccccccaagactcccctcc	8	20	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44060851C>A	ENST00000344290.5	+	6	1003	c.681C>A	c.(679-681)tcC>tcA	p.S227S	MAPT_ENST00000576518.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Silent_p.S227S|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000571987.1_Silent_p.S227S|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Silent_p.S227S	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	227					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TCGATGAGTCCTCCCCCCAAG	0.687													False	0	False	17:44060851	0	A	44060851	C	A	44060851	2	1	88	1	0	0	0	0	0	0	0	1	9364	668	24	3		3	MAPT	17	44060851	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9049	44060851	37134359	16736	24448											
STH	246744	broad.mit.edu	37	chr17	44076881	44076881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttggcccagttcttacaGctctgaagagagcagcagga	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44076881G>A	ENST00000537309.1	+	1	266	c.236G>A	c.(235-237)aGc>aAc	p.S79N	MAPT_ENST00000576518.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	79						cytoplasm|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGTTCTTACAGCTCTGAAGAG	0.557													False	0	False	17:44076881	0	A	44076881	G	A	44076881	3	1	88	1	0	0	0	0	1	0	0	0	15363	971	34	2	238	2	STH	17	44076881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16030	44076881	37118329	16737	24449											
WNT3	7473	broad.mit.edu	37	chr17	44845788	44845788	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttccttccgcttctccgtCctcgtgttgtggccccggcc	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44845788C>T	ENST00000225512.5	-	4	1128	c.966G>A	c.(964-966)agG>agA	p.R322R		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	322					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTTCTCCGTCCTCGTGTTGT	0.582													False	0	False	17:44845788	0	T	44845788	C	T	44845788	2	4	88	1	0	0	0	0	0	0	0	1	17472	854	30	2		2	WNT3	17	44845788	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	768907	44845788	36349422	16738	24450											
MYL4	4635	broad.mit.edu	37	chr17	45299202	45299202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgggtgctgagcttcgGcacgtccttgccaccctggg	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45299202G>A	ENST00000354968.1	+	5	596	c.468G>A	c.(466-468)cgG>cgA	p.R156R	MYL4_ENST00000393450.1_Silent_p.R156R|MYL4_ENST00000572316.1_Silent_p.R156R	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	156	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CTGAGCTTCGGCACGTCCTTG	0.592													False	0	False	17:45299202	0	A	45299202	G	A	45299202	2	1	88	1	0	0	0	0	0	0	0	1	10116	1190	42	2		2	MYL4	17	45299202	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453414	45299202	35896008	16739	24451											
ITGB3	3690	broad.mit.edu	37	chr17	45360742	45360742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctctgggctcacctcGctgtgacctgaaggagaatc	11	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45360742G>A	ENST00000559488.1	+	3	204	c.188G>A	c.(187-189)cGc>cAc	p.R63H	ITGB3_ENST00000435993.2_Missense_Mutation_p.R16H|ITGB3_ENST00000571680.1_Missense_Mutation_p.R63H|ITGB3_ENST00000560629.1_Silent_p.S51S	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	63					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GGCTCACCTCGCTGTGACCTG	0.572													False	0	False	17:45360742	0	A	45360742	G	A	45360742	3	1	88	1	0	0	0	0	1	0	0	0	7945	1087	38	1	198	1	ITGB3	17	45360742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61540	45360742	35834468	16740	24452											
TBX21	30009	broad.mit.edu	37	chr17	45811195	45811195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggccgcgtgaggactaCgcgctacccgcgggactgga	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45811195C>T	ENST00000177694.1	+	1	586	c.375C>T	c.(373-375)taC>taT	p.Y125Y		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	125					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTGAGGACTACGCGCTACCCG	0.692													False	0	False	17:45811195	0	T	45811195	C	T	45811195	2	4	88	1	0	0	0	0	0	0	0	1	15739	547	19	1		1	TBX21	17	45811195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	450453	45811195	35384015	16741	24453											
OSBPL7	114881	broad.mit.edu	37	chr17	45886509	45886509	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctcgtgccacttcccaaaGagtcggtggaggacacggcc	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45886509G>T	ENST00000007414.3	-	20	2294	c.2103C>A	c.(2101-2103)ctC>ctA	p.L701L	OSBPL7_ENST00000392507.3_Silent_p.L701L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	701					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ACTTCCCAAAGAGTCGGTGGA	0.637													False	0	True	17:45886509	0	T	45886509	G	T	45886509	2	4	88	1	0	0	0	0	0	0	0	1	11350	929	33	3		3	OSBPL7	17	45886509	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75314	45886509	35308701	16742	24454											
MRPL10	124995	broad.mit.edu	37	chr17	45904115	45904115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggggcagcagattttgGtacttggaatcctccaggaa	12	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45904115G>A	ENST00000290208.7	-	4	902	c.450C>T	c.(448-450)taC>taT	p.Y150Y	MRPL10_ENST00000414011.1_Silent_p.Y150Y|MRPL10_ENST00000351111.2_Silent_p.Y140Y			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	140					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCAGATTTTGGTACTTGGAAT	0.537													False	0	False	17:45904115	0	A	45904115	G	A	45904115	2	1	88	1	0	0	0	0	0	0	0	1	9842	1256	44	2		2	MRPL10	17	45904115	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17606	45904115	35291095	16743	24455											
LRRC46	90506	broad.mit.edu	37	chr17	45909502	45909502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaggaagggggcgtctGcatcactgaagcccttatca	12	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45909502G>A	ENST00000269025.4	+	2	410	c.47G>A	c.(46-48)tGc>tAc	p.C16Y		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	16										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGGGGCGTCTGCATCACTGAA	0.532													False	0	False	17:45909502	0	A	45909502	G	A	45909502	3	1	88	1	0	0	0	0	1	0	0	0	9065	1319	46	2	53	2	LRRC46	17	45909502	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5387	45909502	35285708	16744	24456											
SP2	6668	broad.mit.edu	37	chr17	45994216	45994216	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcccagccccctgtggCtgtggctgagcaggtggaga	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45994216C>A	ENST00000376741.4	+	3	916	c.779C>A	c.(778-780)gCt>gAt	p.A260D	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	260					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CCCCCTGTGGCTGTGGCTGAG	0.592													False	0	True	17:45994216	0	A	45994216	C	A	45994216	3	1	88	1	0	0	0	0	1	0	0	0	15044	797	28	3	789	3	SP2	17	45994216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84714	45994216	35200994	16745	24457											
SP2	6668	broad.mit.edu	37	chr17	46002805	46002805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctgcgtgcccatgtgCgcctgcacactggcgagcgg	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46002805C>T	ENST00000376741.4	+	6	1776	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	547					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TGCCCATGTGCGCCTGCACAC	0.592													False	0	False	17:46002805	0	T	46002805	C	T	46002805	3	4	88	1	0	0	0	0	1	0	0	0	15044	768	27	1	1661	1	SP2	17	46002805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8589	46002805	35192405	16746	24458											
PNPO	55163	broad.mit.edu	37	chr17	46024046	46024046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaccaaccgcctgcatgaCcggatagtctttcggcgggg	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46024046C>A	ENST00000225573.4	+	7	789	c.684C>A	c.(682-684)gaC>gaA	p.D228E	RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000434554.2_Missense_Mutation_p.D185E|PNPO_ENST00000534893.1_Missense_Mutation_p.D133E|PNPO_ENST00000544840.1_Missense_Mutation_p.D210E	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	228					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5					Pyridoxal Phosphate(DB00114)	GCCTGCATGACCGGATAGTCT	0.572											OREG0024505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:46024046	0	A	46024046	C	A	46024046	3	1	88	1	0	0	0	0	1	0	0	0	12241	506	18	3	710	3	PNPO	17	46024046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21241	46024046	35171164	16747	24459											
CDK5RAP3	80279	broad.mit.edu	37	chr17	46052879	46052879	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcttctcccctctctaGggcgaaaatgtccgaggaga	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46052879G>A	ENST00000536708.2	+	7	697		c.e7-1		CDK5RAP3_ENST00000338399.4_Splice_Site	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CCCCTCTCTAGGGCGAAAATG	0.572													False	0	True	17:46052879	0	A	46052879	G	A	46052879	5	1	88	1	0	0	0	0	0	0	1	0	3170	1014	35	2	539	2	CDK5RAP3	17	46052879	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28833	46052879	35142331	16748	24460											
CDK5RAP3	80279	broad.mit.edu	37	chr17	46056230	46056230	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggcccagatgccctgAcactgcttgaatacactgag	11	13	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46056230A>T	ENST00000536708.2	+	11	1208	c.1099A>T	c.(1099-1101)Aca>Tca	p.T367S	CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.T342S|CDK5RAP3_ENST00000578663.1_3'UTR	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	342					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AGATGCCCTGACACTGCTTGA	0.537											OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:46056230	0	T	46056230	A	T	46056230	3	4	88	1	0	0	0	0	1	0	0	0	3170	275	10	5	1066	5	CDK5RAP3	17	46056230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3351	46056230	35138980	16749	24461											
COPZ2	51226	broad.mit.edu	37	chr17	46106511	46106511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaaaattcaccttctggaTcacttgctgggggtcactct	8	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46106511T>C	ENST00000006101.4	-	8	519	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	176					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						ACCTTCTGGATCACTTGCTGG	0.532													False	0	False	17:46106511	0	C	46106511	T	C	46106511	3	2	88	1	0	0	0	0	1	0	0	0	3765	1435	50	4	118	4	COPZ2	17	46106511	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50281	46106511	35088699	16750	24462											
NFE2L1	4779	broad.mit.edu	37	chr17	46128755	46128755	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtgagggccctggacaGgttccaggtgccaaccactg	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46128755G>T	ENST00000362042.3	+	2	891	c.275G>T	c.(274-276)aGg>aTg	p.R92M	NFE2L1_ENST00000357480.5_Missense_Mutation_p.R92M|NFE2L1_ENST00000585291.1_Missense_Mutation_p.R92M|NFE2L1_ENST00000361665.3_Missense_Mutation_p.R92M	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	92					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCCTGGACAGGTTCCAGGTG	0.592													False	0	False	17:46128755	0	T	46128755	G	T	46128755	3	4	88	1	0	0	0	0	1	0	0	0	10435	1000	35	3	277	3	NFE2L1	17	46128755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22244	46128755	35066455	16751	24463											
NFE2L1	4779	broad.mit.edu	37	chr17	46133807	46133807	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatctgggggctgggcgtgaGgtttttgactatagtcaccg	16	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46133807G>T	ENST00000362042.3	+	3	1186	c.570G>T	c.(568-570)gaG>gaT	p.E190D	NFE2L1_ENST00000357480.5_Missense_Mutation_p.E190D|NFE2L1_ENST00000585291.1_Missense_Mutation_p.E190D|NFE2L1_ENST00000582155.1_Missense_Mutation_p.E32D|NFE2L1_ENST00000583378.1_Missense_Mutation_p.E21D|NFE2L1_ENST00000536222.1_Missense_Mutation_p.E64D|NFE2L1_ENST00000361665.3_Missense_Mutation_p.E179D	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	190	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGGCGTGAGGTTTTTGACT	0.542													False	0	False	17:46133807	0	T	46133807	G	T	46133807	3	4	88	1	0	0	0	0	1	0	0	0	10435	991	35	3	576	3	NFE2L1	17	46133807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5052	46133807	35061403	16752	24464											
NFE2L1	4779	broad.mit.edu	37	chr17	46134725	46134725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttccagcagacatttccaGcataacagaagcagtgccta	8	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46134725G>T	ENST00000362042.3	+	5	1449	c.833G>T	c.(832-834)aGc>aTc	p.S278I	NFE2L1_ENST00000357480.5_Missense_Mutation_p.S248I|NFE2L1_ENST00000585291.1_Missense_Mutation_p.S248I|NFE2L1_ENST00000582155.1_Missense_Mutation_p.S90I|NFE2L1_ENST00000583378.1_Missense_Mutation_p.S79I|NFE2L1_ENST00000536222.1_Missense_Mutation_p.S122I|NFE2L1_ENST00000361665.3_Missense_Mutation_p.S267I	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	278	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACATTTCCAGCATAACAGAA	0.488													False	0	False	17:46134725	0	T	46134725	G	T	46134725	3	4	88	1	0	0	0	0	1	0	0	0	10435	971	34	3	847	3	NFE2L1	17	46134725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	918	46134725	35060485	16753	24465											
CBX1	10951	broad.mit.edu	37	chr17	46153428	46153428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatcagaatcagctttgcGcttgcctccctctgatttat	7	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46153428G>A	ENST00000393408.3	-	3	733	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	CBX1_ENST00000225603.4_Missense_Mutation_p.R85C|CBX1_ENST00000495350.1_Missense_Mutation_p.R85C	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	85						nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						TCAGCTTTGCGCTTGCCTCCC	0.443													False	0	False	17:46153428	0	A	46153428	G	A	46153428	3	1	88	1	0	0	0	0	1	0	0	0	2737	1087	38	1	316	1	CBX1	17	46153428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18703	46153428	35041782	16754	24466											
CBX1	10951	broad.mit.edu	37	chr17	46154252	46154252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcccttccactttaggaGgtactccactttgcccttta	6	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46154252G>A	ENST00000393408.3	-	2	595	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	CBX1_ENST00000225603.4_Missense_Mutation_p.L39F|CBX1_ENST00000495350.1_Missense_Mutation_p.L39F	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	39	Chromo 1.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CACTTTAGGAGGTACTCCACT	0.458													False	0	False	17:46154252	0	A	46154252	G	A	46154252	3	1	88	1	0	0	0	0	1	0	0	0	2737	1000	35	2	458	2	CBX1	17	46154252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	824	46154252	35040958	16755	24467											
HOXB1	3211	broad.mit.edu	37	chr17	46607055	46607055	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttctgcttcattcgtcGgttctggaaccaaatcttga	7	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46607055G>A	ENST00000239174.6	-	2	852	c.760C>T	c.(760-762)Cga>Tga	p.R254*	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	254						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCATTCGTCGGTTCTGGAAC	0.602													False	0	False	17:46607055	0	A	46607055	G	A	46607055	4	1	88	1	0	0	0	0	0	1	0	0	7346	1124	39	1	149	1	HOXB1	17	46607055	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	452803	46607055	34588155	16756	24468											
HOXB1	3211	broad.mit.edu	37	chr17	46607804	46607804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaggagatcagcataggCcggtgcaaagctcgcggtct	16	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46607804C>T	ENST00000239174.6	-	1	555	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	HOXB1_ENST00000577092.1_Missense_Mutation_p.A155T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	155						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCAGCATAGGCCGGTGCAAAG	0.607													False	0	False	17:46607804	0	T	46607804	C	T	46607804	3	4	88	1	0	0	0	0	1	0	0	0	7346	739	26	2	450	2	HOXB1	17	46607804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	749	46607804	34587406	16757	24469											
HOXB3	3213	broad.mit.edu	37	chr17	46628044	46628044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggtacttctgcggggcGccgcagcctttgagaggggg	20	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628044G>A	ENST00000470495.1	-	2	2395	c.948C>T	c.(946-948)ggC>ggT	p.G316G	HOXB3_ENST00000476342.1_Silent_p.G316G|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Silent_p.G316G|HOXB3_ENST00000490677.1_Silent_p.G182G|HOXB3_ENST00000498678.1_Silent_p.G316G|HOXB3_ENST00000460160.1_Silent_p.G184G|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Silent_p.G243G|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Silent_p.G243G|HOXB3_ENST00000485909.2_Silent_p.G184G			P14651	HXB3_HUMAN	homeobox B3	316					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTGCGGGGCGCCGCAGCCTT	0.697											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:46628044	0	A	46628044	G	A	46628044	2	1	88	1	0	0	0	0	0	0	0	1	7349	1074	38	1		1	HOXB3	17	46628044	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20240	46628044	34567166	16758	24470											
HOXB3	3213	broad.mit.edu	37	chr17	46628302	46628302	+	Silent	SNP	C	C	T													tggaaccagatcttgatctgCcgctcgctgaggttcagcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628302C>T	ENST00000470495.1	-	2	2137	c.690G>A	c.(688-690)cgG>cgA	p.R230R	HOXB3_ENST00000476342.1_Silent_p.R230R|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Silent_p.R230R|HOXB3_ENST00000490677.1_Silent_p.R96R|HOXB3_ENST00000498678.1_Silent_p.R230R|HOXB3_ENST00000460160.1_Silent_p.R98R|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Silent_p.R157R|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Silent_p.R157R|HOXB3_ENST00000485909.2_Silent_p.R98R			P14651	HXB3_HUMAN	homeobox B3	230					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTTGATCTGCCGCTCGCTGA	0.612													False	0	True	17:46628302	0	T	46628302	C	T	46628302	2	4	88	1	0	0	0	0	0	0	0	1	7349	726	26	2		2	HOXB3	17	46628302	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	258	46628302	34566908	16759	24471	258	2									
HOXB3	3213	broad.mit.edu	37	chr17	46628304	46628304	+	Missense_Mutation	SNP	G	G	A													gaaccagatcttgatctgccGctcgctgaggttcagcaggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628304G>A	ENST00000470495.1	-	2	2135	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	HOXB3_ENST00000476342.1_Missense_Mutation_p.R230W|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.R230W|HOXB3_ENST00000490677.1_Missense_Mutation_p.R96W|HOXB3_ENST00000498678.1_Missense_Mutation_p.R230W|HOXB3_ENST00000460160.1_Missense_Mutation_p.R98W|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.R157W|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.R157W|HOXB3_ENST00000485909.2_Missense_Mutation_p.R98W			P14651	HXB3_HUMAN	homeobox B3	230					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TTGATCTGCCGCTCGCTGAGG	0.612													False	0	True	17:46628304	0	A	46628304	G	A	46628304	3	1	88	1	0	0	0	0	1	0	0	0	7349	1086	38	1	611	1	HOXB3	17	46628304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	46628304	34566906	16760	24472	258	2									
HOXB3	3213	broad.mit.edu	37	chr17	46629754	46629754	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttggggggggacatcgaagCcgaagccattgctgccaggg	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46629754C>A	ENST00000470495.1	-	1	1530	c.83G>T	c.(82-84)gGc>gTc	p.G28V	HOXB3_ENST00000476342.1_Missense_Mutation_p.G28V|HOXB3_ENST00000311626.4_Missense_Mutation_p.G28V|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000498678.1_Missense_Mutation_p.G28V|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000485909.2_Intron			P14651	HXB3_HUMAN	homeobox B3	28					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GACATCGAAGCCGAAGCCATT	0.652													False	0	True	17:46629754	0	A	46629754	C	A	46629754	3	1	88	1	0	0	0	0	1	0	0	0	7349	739	26	3	1220	3	HOXB3	17	46629754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1450	46629754	34565456	16761	24473											
HOXB5	3215	broad.mit.edu	37	chr17	46670671	46670671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgaaattggcgctggagCtggctgaggtcgcctggtcg	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46670671C>T	ENST00000239151.5	-	1	652	c.374G>A	c.(373-375)aGc>aAc	p.S125N	HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	125						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GGCGCTGGAGCTGGCTGAGGT	0.682													False	0	True	17:46670671	0	T	46670671	C	T	46670671	3	4	88	1	0	0	0	0	1	0	0	0	7351	797	28	2	443	2	HOXB5	17	46670671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40917	46670671	34524539	16762	24474											
HOXB7	3217	broad.mit.edu	37	chr17	46685370	46685370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgatgcgccgccgccgcGtcaggtagcgattgtagtga	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46685370G>A	ENST00000239165.7	-	2	586	c.488C>T	c.(487-489)aCg>aTg	p.T163M	HOXB7_ENST00000567101.2_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	163						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						CCGCCGCCGCGTCAGGTAGCG	0.557													False	0	True	17:46685370	0	A	46685370	G	A	46685370	3	1	88	1	0	0	0	0	1	0	0	0	7353	1145	40	1	169	1	HOXB7	17	46685370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14699	46685370	34509840	16763	24475											
HOXB8	3218	broad.mit.edu	37	chr17	46691677	46691677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggaagagctgtgtgggCgacgggctctgctcggagcc	19	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691677C>T	ENST00000239144.4	-	1	624	c.390G>A	c.(388-390)tcG>tcA	p.S130S	HOXB8_ENST00000576562.1_Silent_p.S130S|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	130						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GCTGTGTGGGCGACGGGCTCT	0.726													False	0	True	17:46691677	0	T	46691677	C	T	46691677	2	4	88	1	0	0	0	0	0	0	0	1	7354	755	27	1		1	HOXB8	17	46691677	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6307	46691677	34503533	16764	24476											
HOXB8	3218	broad.mit.edu	37	chr17	46691781	46691781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggatcctgcgcaccgaataGgctctggcgttgcagcgggt	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691781G>T	ENST00000239144.4	-	1	520	c.286C>A	c.(286-288)Cta>Ata	p.L96I	HOXB8_ENST00000576562.1_Missense_Mutation_p.L96I|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	96						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GCACCGAATAGGCTCTGGCGT	0.692													False	0	False	17:46691781	0	T	46691781	G	T	46691781	3	4	88	1	0	0	0	0	1	0	0	0	7354	991	35	3	453	3	HOXB8	17	46691781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104	46691781	34503429	16765	24477											
HOXB8	3218	broad.mit.edu	37	chr17	46691797	46691797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataggctctggcgttgcagCgggtcgtagccgtagaaatt	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691797C>T	ENST00000239144.4	-	1	504	c.270G>A	c.(268-270)ccG>ccA	p.P90P	HOXB8_ENST00000576562.1_Silent_p.P90P|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	90						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GGCGTTGCAGCGGGTCGTAGC	0.687													False	0	True	17:46691797	0	T	46691797	C	T	46691797	2	4	88	1	0	0	0	0	0	0	0	1	7354	755	27	1		1	HOXB8	17	46691797	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	46691797	34503413	16766	24478											
HOXB9	3219	broad.mit.edu	37	chr17	46703204	46703204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagacagcacggcctccctgCccgccgaagtttccaaactg	9	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46703204C>A	ENST00000311177.5	-	1	635	c.428G>T	c.(427-429)gGc>gTc	p.G143V	HOXB9_ENST00000550387.1_Intron|HOXB7_ENST00000567101.2_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	143					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GGCCTCCCTGCCCGCCGAAGT	0.602													False	0	True	17:46703204	0	A	46703204	C	A	46703204	3	1	88	1	0	0	0	0	1	0	0	0	7355	739	26	3	332	3	HOXB9	17	46703204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11407	46703204	34492006	16767	24479											
TTLL6	284076	broad.mit.edu	37	chr17	46868909	46868909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctcaatatccctccatAtctgctccacgttgtagctg	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46868909A>G	ENST00000393382.3	-	9	1196	c.1055T>C	c.(1054-1056)aTa>aCa	p.I352T	TTLL6_ENST00000433608.2_Missense_Mutation_p.I45T	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	304	TTL.					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ATCCCTCCATATCTGCTCCAC	0.547											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:46868909	0	G	46868909	A	G	46868909	3	3	88	1	0	0	0	0	1	0	0	0	16815	449	16	4	1648	4	TTLL6	17	46868909	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	165705	46868909	34326301	16768	24480											
IGF2BP1	10642	broad.mit.edu	37	chr17	47075176	47075176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttggagaaagtgtttgcGgagcacaagatctcctacag	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47075176G>A	ENST00000290341.3	+	1	403	c.69G>A	c.(67-69)gcG>gcA	p.A23A	IGF2BP1_ENST00000431824.2_Silent_p.A23A|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	23	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGTGTTTGCGGAGCACAAGA	0.602													False	0	False	17:47075176	0	A	47075176	G	A	47075176	2	1	88	1	0	0	0	0	0	0	0	1	7623	1103	39	1		1	IGF2BP1	17	47075176	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206267	47075176	34120034	16769	24481											
IGF2BP1	10642	broad.mit.edu	37	chr17	47115652	47115652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggctttggctctcgggGtcagccccgccagggctcac	16	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47115652G>A	ENST00000290341.3	+	6	858	c.524G>A	c.(523-525)gGt>gAt	p.G175D	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	175					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCTCTCGGGGTCAGCCCCGC	0.652													False	0	True	17:47115652	0	A	47115652	G	A	47115652	3	1	88	1	0	0	0	0	1	0	0	0	7623	1261	44	2	546	2	IGF2BP1	17	47115652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40476	47115652	34079558	16770	24482											
IGF2BP1	10642	broad.mit.edu	37	chr17	47115672	47115672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagccccgccagggctcaCctgtggcagcgggggcccca	15	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47115672C>T	ENST00000290341.3	+	6	878	c.544C>T	c.(544-546)Cct>Tct	p.P182S	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	182					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGGGCTCACCTGTGGCAGC	0.652													False	0	False	17:47115672	0	T	47115672	C	T	47115672	3	4	88	1	0	0	0	0	1	0	0	0	7623	507	18	2	566	2	IGF2BP1	17	47115672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	47115672	34079538	16771	24483											
IGF2BP1	10642	broad.mit.edu	37	chr17	47123649	47123649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgcagaatttgacggcaGctgaggtggtagtaccaaga	14	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47123649G>A	ENST00000290341.3	+	14	1889	c.1555G>A	c.(1555-1557)Gct>Act	p.A519T	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A380T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	519	KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTGACGGCAGCTGAGGTGGT	0.547													False	0	False	17:47123649	0	A	47123649	G	A	47123649	3	1	88	1	0	0	0	0	1	0	0	0	7623	971	34	2	1609	2	IGF2BP1	17	47123649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7977	47123649	34071561	16772	24484											
IGF2BP1	10642	broad.mit.edu	37	chr17	47126761	47126761	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggcccaggttaagcagcaGcatcagaagggacagagtaa	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47126761G>T	ENST00000290341.3	+	15	2023	c.1689G>T	c.(1687-1689)caG>caT	p.Q563H	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.Q424H	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	563	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTAAGCAGCAGCATCAGAAGG	0.577													False	0	True	17:47126761	0	T	47126761	G	T	47126761	3	4	88	1	0	0	0	0	1	0	0	0	7623	962	34	3	1747	3	IGF2BP1	17	47126761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3112	47126761	34068449	16773	24485											
ZNF652	22834	broad.mit.edu	37	chr17	47376251	47376251	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggggcggctggtgaagcTtttgccacagatttcacaga	14	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47376251T>G	ENST00000362063.2	-	6	1663	c.1345A>C	c.(1345-1347)Agc>Cgc	p.S449R	ZNF652_ENST00000430262.2_Missense_Mutation_p.S449R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTGGTGAAGCTTTTGCCACAG	0.463													False	0	True	17:47376251	0	G	47376251	T	G	47376251	3	3	88	1	0	0	0	0	1	0	0	0	18148	1609	56	4	479	4	ZNF652	17	47376251	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	249490	47376251	33818959	16774	24486											
ZNF652	22834	broad.mit.edu	37	chr17	47394317	47394317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcttctccaggtaccaGcgagtgttaaataccctggg	11	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394317G>A	ENST00000362063.2	-	2	1089	c.771C>T	c.(769-771)cgC>cgT	p.R257R	ZNF652_ENST00000430262.2_Silent_p.R257R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CCAGGTACCAGCGAGTGTTAA	0.498													False	0	False	17:47394317	0	A	47394317	G	A	47394317	2	1	88	1	0	0	0	0	0	0	0	1	18148	958	34	2		2	ZNF652	17	47394317	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18066	47394317	33800893	16775	24487											
ZNF652	22834	broad.mit.edu	37	chr17	47394342	47394342	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaataccctggggcacTtctcacaggtcagagtctct	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394342T>G	ENST00000362063.2	-	2	1064	c.746A>C	c.(745-747)aAg>aCg	p.K249T	ZNF652_ENST00000430262.2_Missense_Mutation_p.K249T	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CCTGGGGCACTTCTCACAGGT	0.488													False	0	False	17:47394342	0	G	47394342	T	G	47394342	3	3	88	1	0	0	0	0	1	0	0	0	18148	1609	56	4	1094	4	ZNF652	17	47394342	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25	47394342	33800868	16776	24488											
ZNF652	22834	broad.mit.edu	37	chr17	47394623	47394623	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcttcctcactctcttcCtcttcctcctcactgcttgt	3	19	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394623C>A	ENST00000362063.2	-	2	783	c.465G>T	c.(463-465)gaG>gaT	p.E155D	ZNF652_ENST00000430262.2_Missense_Mutation_p.E155D	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	155	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CACTCTCTTCCTCTTCCTCCT	0.413													False	0	True	17:47394623	0	A	47394623	C	A	47394623	3	1	88	1	0	0	0	0	1	0	0	0	18148	680	24	3	1375	3	ZNF652	17	47394623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	281	47394623	33800587	16777	24489											
PHB	5245	broad.mit.edu	37	chr17	47486797	47486797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctggctggcgacaggccGgaagaggatgcgcagtgtga	18	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47486797G>A	ENST00000300408.3	-	4	361	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	PHB_ENST00000508009.1_5'UTR|PHB_ENST00000511832.1_Missense_Mutation_p.R97W|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	97					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GCGACAGGCCGGAAGAGGATG	0.483													False	0	False	17:47486797	0	A	47486797	G	A	47486797	3	1	88	1	0	0	0	0	1	0	0	0	11883	1115	39	1	545	1	PHB	17	47486797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92174	47486797	33708413	16778	24490											
NGFR	4804	broad.mit.edu	37	chr17	47590307	47590307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctggccgccctgcgccGcatccagcgagccgacctcg	11	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47590307G>A	ENST00000172229.3	+	6	1345	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.R313H	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	407	Death.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCCTGCGCCGCATCCAGCGA	0.701													False	0	False	17:47590307	0	A	47590307	G	A	47590307	3	1	88	1	0	0	0	0	1	0	0	0	10464	1087	38	1	1242	1	NGFR	17	47590307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103510	47590307	33604903	16779	24491											
FAM117A	81558	broad.mit.edu	37	chr17	47841426	47841426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggcacctccgcctctGccgcccgctgcggcccccgc	10	25	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47841426G>A	ENST00000240364.2	-	1	103	c.24C>T	c.(22-24)ggC>ggT	p.G8G	FAM117A_ENST00000514018.1_Intron|FAM117A_ENST00000513602.1_Intron	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	8										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						ctccgcctctgccgcccgctg	0.801													False	0	True	17:47841426	0	A	47841426	G	A	47841426	2	1	88	1	0	0	0	0	0	0	0	1	5445	1306	46	2		2	FAM117A	17	47841426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	251119	47841426	33353784	16780	24492											
ITGA3	3675	broad.mit.edu	37	chr17	48156190	48156190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccttcttacccctagggTaaatcaccggctacaaagct	6	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48156190T>C	ENST00000320031.8	+	19	2630	c.2300T>C	c.(2299-2301)gTa>gCa	p.V767A	ITGA3_ENST00000007722.7_Missense_Mutation_p.V767A	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	767					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ACCCCTAGGGTAAATCACCGG	0.557													False	0	True	17:48156190	0	C	48156190	T	C	48156190	3	2	88	1	0	0	0	0	1	0	0	0	7927	1638	57	4	2374	4	ITGA3	17	48156190	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	314764	48156190	33039020	16781	24493											
ITGA3	3675	broad.mit.edu	37	chr17	48158697	48158697	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tacagagactttgaccgagtCcgggtaaatggctgggctac	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48158697C>A	ENST00000320031.8	+	23	3174	c.2844C>A	c.(2842-2844)gtC>gtA	p.V948V	ITGA3_ENST00000007722.7_Silent_p.V948V	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	948					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TTGACCGAGTCCGGGTAAATG	0.547													False	0	False	17:48158697	0	A	48158697	C	A	48158697	2	1	88	1	0	0	0	0	0	0	0	1	7927	842	30	3		3	ITGA3	17	48158697	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2507	48158697	33036513	16782	24494											
PDK2	5164	broad.mit.edu	37	chr17	48172856	48172856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaggggcgcccaagtaCatagagcacttcagcaagtt	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48172856C>T	ENST00000503176.1	+	1	218	c.57C>T	c.(55-57)taC>taT	p.Y19Y	PDK2_ENST00000007708.3_Intron	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	19					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CGCCCAAGTACATAGAGCACT	0.677									Autosomal Dominant Polycystic Kidney Disease				False	0	False	17:48172856	0	T	48172856	C	T	48172856	2	4	88	1	0	0	0	0	0	0	0	1	11744	489	17	2		2	PDK2	17	48172856	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14159	48172856	33022354	16783	24495											
PDK2	5164	broad.mit.edu	37	chr17	48185696	48185696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcagaatgccatgagggCgactgtggaaagccatgagt	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48185696C>T	ENST00000503176.1	+	8	937	c.776C>T	c.(775-777)gCg>gTg	p.A259V	PDK2_ENST00000007708.3_Missense_Mutation_p.A195V	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	259	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GCCATGAGGGCGACTGTGGAA	0.587									Autosomal Dominant Polycystic Kidney Disease				False	0	True	17:48185696	0	T	48185696	C	T	48185696	3	4	88	1	0	0	0	0	1	0	0	0	11744	768	27	1	806	1	PDK2	17	48185696	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12840	48185696	33009514	16784	24496											
PDK2	5164	broad.mit.edu	37	chr17	48187434	48187434	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgcccagcacggagcccaaGaacacgtccacgtaccgcgt	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48187434G>T	ENST00000503176.1	+	11	1358	c.1197G>T	c.(1195-1197)aaG>aaT	p.K399N	SAMD14_ENST00000330175.4_3'UTR|PDK2_ENST00000007708.3_Missense_Mutation_p.K335N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	399					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CGGAGCCCAAGAACACGTCCA	0.667									Autosomal Dominant Polycystic Kidney Disease				False	0	False	17:48187434	0	T	48187434	G	T	48187434	3	4	88	1	0	0	0	0	1	0	0	0	11744	933	33	3	1239	3	PDK2	17	48187434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1738	48187434	33007776	16785	24497											
SAMD14	201191	broad.mit.edu	37	chr17	48193388	48193388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtccaggaactttcggCgagtcttcttatcgaggccg	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48193388C>T	ENST00000330175.4	-	5	883	c.566G>A	c.(565-567)cGc>cAc	p.R189H	SAMD14_ENST00000503131.1_Missense_Mutation_p.R189H|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	189										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GAACTTTCGGCGAGTCTTCTT	0.627													False	0	False	17:48193388	0	T	48193388	C	T	48193388	3	4	88	1	0	0	0	0	1	0	0	0	13898	768	27	1	799	1	SAMD14	17	48193388	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5954	48193388	33001822	16786	24498											
PPP1R9B	84687	broad.mit.edu	37	chr17	48216883	48216883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctcaaacacctcgatggCcatctcaccacccgggaacg	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48216883C>T	ENST00000316878.6	-	8	1926	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	642	Interacts with TGN38 (By similarity).				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						ACCTCGATGGCCATCTCACCA	0.622													False	0	False	17:48216883	0	T	48216883	C	T	48216883	3	4	88	1	0	0	0	0	1	0	0	0	12453	739	26	2	543	2	PPP1R9B	17	48216883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23495	48216883	32978327	16787	24499											
PPP1R9B	84687	broad.mit.edu	37	chr17	48218701	48218701	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcactcccaccagacttgTtccatccacctccaccagga	6	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48218701T>G	ENST00000316878.6	-	6	1659	c.1657A>C	c.(1657-1659)Aca>Cca	p.T553P	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	553	PDZ.				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						ACCAGACTTGTTCCATCCACC	0.627													False	0	True	17:48218701	0	G	48218701	T	G	48218701	3	3	88	1	0	0	0	0	1	0	0	0	12453	1725	60	4	818	4	PPP1R9B	17	48218701	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1818	48218701	32976509	16788	24500											
SGCA	6442	broad.mit.edu	37	chr17	48252742	48252742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgtgcacacaggtgagCggctgcctccccgcgtggac	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48252742C>T	ENST00000262018.3	+	9	1144	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	SGCA_ENST00000513942.1_3'UTR|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000344627.6_Missense_Mutation_p.R246W|SGCA_ENST00000543315.1_Missense_Mutation_p.R246W	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	370					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CACAGGTGAGCGGCTGCCTCC	0.652													False	0	False	17:48252742	0	T	48252742	C	T	48252742	3	4	88	1	0	0	0	0	1	0	0	0	14280	759	27	1	1142	1	SGCA	17	48252742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34041	48252742	32942468	16789	24501											
COL1A1	1277	broad.mit.edu	37	chr17	48263816	48263816	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccagtctccatgttgcagaaGactttgatggcatccaggtt	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48263816G>A	ENST00000225964.5	-	49	3985	c.3867C>T	c.(3865-3867)gtC>gtT	p.V1289V		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1289	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TGTTGCAGAAGACTTTGATGG	0.567			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						False	0	False	17:48263816	0	A	48263816	G	A	48263816	2	1	88	1	0	0	0	0	0	0	0	1	3700	929	33	2		2	COL1A1	17	48263816	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11074	48263816	32931394	16790	24502											
COL1A1	1277	broad.mit.edu	37	chr17	48264896	48264896	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaccttgttcaccaggagaGccctgaaggacagataaaaa	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48264896G>T	ENST00000225964.5	-	46	3490	c.3372C>A	c.(3370-3372)ggC>ggA	p.G1124G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1124	Triple-helical region.		G -> C (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CACCAGGAGAGCCCTGAAGGA	0.587			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						False	0	True	17:48264896	0	T	48264896	G	T	48264896	2	4	88	1	0	0	0	0	0	0	0	1	3700	958	34	3		3	COL1A1	17	48264896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1080	48264896	32930314	16791	24503											
XYLT2	64132	broad.mit.edu	37	chr17	48434506	48434506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgacgcaggcggtgcagCcctcagcccaggggccggca	17	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48434506C>T	ENST00000017003.2	+	9	1883	c.1834C>T	c.(1834-1836)Ccc>Tcc	p.P612S	XYLT2_ENST00000507602.1_Missense_Mutation_p.P612S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	612					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGCGGTGCAGCCCTCAGCCCA	0.642													False	0	True	17:48434506	0	T	48434506	C	T	48434506	3	4	88	1	0	0	0	0	1	0	0	0	17548	739	26	2	1868	2	XYLT2	17	48434506	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169610	48434506	32760704	16792	24504											
XYLT2	64132	broad.mit.edu	37	chr17	48437340	48437340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccacagatgatgccagCtggctgcacgcagggccacc	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48437340C>T	ENST00000017003.2	+	11	2335	c.2286C>T	c.(2284-2286)agC>agT	p.S762S	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	762					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGATGCCAGCTGGCTGCACG	0.632													False	0	True	17:48437340	0	T	48437340	C	T	48437340	2	4	88	1	0	0	0	0	0	0	0	1	17548	796	28	2		2	XYLT2	17	48437340	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2834	48437340	32757870	16793	24505											
LRRC59	55379	broad.mit.edu	37	chr17	48474609	48474609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacctcattcaggtcgctgaGgctcaggtccagttcgttgc	12	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48474609G>T	ENST00000225972.7	-	1	305	c.70C>A	c.(70-72)Ctc>Atc	p.L24I	LRRC59_ENST00000576448.1_Missense_Mutation_p.L24I|RP1-117B12.4_ENST00000511627.1_RNA	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	24						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGGTCGCTGAGGCTCAGGTCC	0.697											OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:48474609	0	T	48474609	G	T	48474609	3	4	88	1	0	0	0	0	1	0	0	0	9077	1000	35	3	881	3	LRRC59	17	48474609	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37269	48474609	32720601	16794	24506											
ACSF2	80221	broad.mit.edu	37	chr17	48539874	48539874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggctggcagcacacggcaGcatctggaccagctccaata	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48539874G>T	ENST00000427954.2	+	7	838	c.795G>T	c.(793-795)caG>caT	p.Q265H	ACSF2_ENST00000504392.1_Missense_Mutation_p.Q197H|ACSF2_ENST00000541920.1_Missense_Mutation_p.Q80H|ACSF2_ENST00000502667.1_Missense_Mutation_p.Q227H|ACSF2_ENST00000300441.4_Missense_Mutation_p.Q240H			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	240					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCACACGGCAGCATCTGGACC	0.617													False	0	False	17:48539874	0	T	48539874	G	T	48539874	3	4	88	1	0	0	0	0	1	0	0	0	175	962	34	3	742	3	ACSF2	17	48539874	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65265	48539874	32655336	16795	24507											
CHAD	1101	broad.mit.edu	37	chr17	48545740	48545740	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgaagaggttgaccagCggggagagcaacccccgggg	17	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48545740C>T	ENST00000508540.1	-	1	587	c.435G>A	c.(433-435)ccG>ccA	p.P145P	CHAD_ENST00000258969.4_Silent_p.P145P|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000300441.4_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	145					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGTTGACCAGCGGGGAGAGCA	0.627													False	0	True	17:48545740	0	T	48545740	C	T	48545740	2	4	88	1	0	0	0	0	0	0	0	1	3333	755	27	1		1	CHAD	17	48545740	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5866	48545740	32649470	16796	24508											
CHAD	1101	broad.mit.edu	37	chr17	48546111	48546111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagttctgggggcaggCggccagcgccggcagcagac	19	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48546111C>T	ENST00000508540.1	-	1	216	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	CHAD_ENST00000258969.4_Missense_Mutation_p.A22T|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000300441.4_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	22					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGGGGGCAGGCGGCCAGCGCC	0.682													False	0	False	17:48546111	0	T	48546111	C	T	48546111	3	4	88	1	0	0	0	0	1	0	0	0	3333	768	27	1	1027	1	CHAD	17	48546111	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	371	48546111	32649099	16797	24509											
EPN3	55040	broad.mit.edu	37	chr17	48614080	48614080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaacacagtggccttcaccGaagtcatgggcatgctgtgg	12	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48614080G>A	ENST00000268933.3	+	2	742	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	EPN3_ENST00000541226.1_5'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.E110K	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	55	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GGCCTTCACCGAAGTCATGGG	0.597													False	0	False	17:48614080	0	A	48614080	G	A	48614080	3	1	88	1	0	0	0	0	1	0	0	0	5219	1059	37	1	165	1	EPN3	17	48614080	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67969	48614080	32581130	16798	24510											
EPN3	55040	broad.mit.edu	37	chr17	48618173	48618173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttttaggccgaacacagaGgccagtggatcctcctgggg	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48618173G>A	ENST00000541226.1	+	6	991	c.662G>A	c.(661-663)aGg>aAg	p.R221K	EPN3_ENST00000537145.1_Silent_p.E361E|EPN3_ENST00000268933.3_Silent_p.E333E			Q9H201	EPN3_HUMAN	epsin 3	411						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CGAACACAGAGGCCAGTGGAT	0.617													False	0	False	17:48618173	0	A	48618173	G	A	48618173	3	1	88	1	0	0	0	0	1	0	0	0	5219	991	35	2	1021	2	EPN3	17	48618173	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4093	48618173	32577037	16799	24511											
CACNA1G	8913	broad.mit.edu	37	chr17	48676891	48676891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgcacccagcctgaagCggagaagcccaagtggagag	15	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48676891C>T	ENST00000352832.5	+	16	3664	c.3292C>T	c.(3292-3294)Cgg>Tgg	p.R1098W	CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1098W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1121W	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1121					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCCTGAAGCGGAGAAGCCC	0.687													False	0	False	17:48676891	0	T	48676891	C	T	48676891	3	4	88	1	0	0	0	0	1	0	0	0	2564	759	27	1	3427	1	CACNA1G	17	48676891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58718	48676891	32518319	16800	24512											
CACNA1G	8913	broad.mit.edu	37	chr17	48677208	48677208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggggatgacgccgatgaCgagggcaacctggtgaggcc	18	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48677208C>T	ENST00000352832.5	+	16	3981	c.3609C>T	c.(3607-3609)gaC>gaT	p.D1203D	CACNA1G_ENST00000358244.5_Silent_p.D1203D|CACNA1G_ENST00000510115.1_Silent_p.D1203D|CACNA1G_ENST00000359106.5_Silent_p.D1226D|CACNA1G_ENST00000507510.2_Silent_p.D1226D|CACNA1G_ENST00000514079.1_Silent_p.D1226D|CACNA1G_ENST00000503485.1_Silent_p.D1226D|CACNA1G_ENST00000514717.1_Silent_p.D1203D|CACNA1G_ENST00000507609.1_Silent_p.D1226D|CACNA1G_ENST00000442258.2_Silent_p.D1203D|CACNA1G_ENST00000510366.1_Silent_p.D1226D|CACNA1G_ENST00000507336.1_Silent_p.D1226D|CACNA1G_ENST00000513689.2_Silent_p.D1226D|CACNA1G_ENST00000360761.4_Silent_p.D1203D|CACNA1G_ENST00000429973.2_Silent_p.D1226D|CACNA1G_ENST00000502264.1_Silent_p.D1203D|CACNA1G_ENST00000515411.1_Silent_p.D1226D|CACNA1G_ENST00000512389.1_Silent_p.D1226D|CACNA1G_ENST00000354983.4_Silent_p.D1203D|CACNA1G_ENST00000505165.1_Silent_p.D1226D|CACNA1G_ENST00000507896.1_Silent_p.D1226D|CACNA1G_ENST00000513964.1_Silent_p.D1226D|CACNA1G_ENST00000515765.1_Silent_p.D1226D|CACNA1G_ENST00000515165.1_Silent_p.D1226D|CACNA1G_ENST00000514181.1_Silent_p.D1226D|CACNA1G_ENST00000416767.4_Silent_p.D1226D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1226					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACGCCGATGACGAGGGCAACC	0.652													False	0	False	17:48677208	0	T	48677208	C	T	48677208	2	4	88	1	0	0	0	0	0	0	0	1	2564	535	19	1		1	CACNA1G	17	48677208	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317	48677208	32518002	16801	24513											
CACNA1G	8913	broad.mit.edu	37	chr17	48692758	48692758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactactccgactactcccGcttccggctcctcgtccacc	5	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48692758G>A	ENST00000352832.5	+	25	5066	c.4694G>A	c.(4693-4695)cGc>cAc	p.R1565H	CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1599H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1599H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1606H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1542H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1558H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1547H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1554H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1576H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1581H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1576H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1565H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1554H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1581H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1599					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GACTACTCCCGCTTCCGGCTC	0.632													False	0	True	17:48692758	0	A	48692758	G	A	48692758	3	1	88	1	0	0	0	0	1	0	0	0	2564	1087	38	1	5169	1	CACNA1G	17	48692758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15550	48692758	32502452	16802	24514											
CACNA1G	8913	broad.mit.edu	37	chr17	48701746	48701746	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgtccgttcactcccaGccagcagataccagctacat	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48701746G>T	ENST00000352832.5	+	33	6246	c.5874G>T	c.(5872-5874)caG>caT	p.Q1958H	CACNA1G_ENST00000358244.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Q2006H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.Q2085H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Q2040H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Q1999H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Q1935H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Q1985H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Q1951H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Q1940H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Q2074H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Q1995H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Q1969H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Q1974H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Q2014H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Q2022H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Q2051H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Q1947H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Q2029H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Q1967H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2085					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TTCACTCCCAGCCAGCAGATA	0.637													False	0	True	17:48701746	0	T	48701746	G	T	48701746	3	4	88	1	0	0	0	0	1	0	0	0	2564	962	34	3	6668	3	CACNA1G	17	48701746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8988	48701746	32493464	16803	24515											
CACNA1G	8913	broad.mit.edu	37	chr17	48703937	48703937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacccccccgagagccaagGtcctcggaccccgcccagcc	10	21	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48703937G>A	ENST00000352832.5	+	34	6950	c.6578G>A	c.(6577-6579)gGt>gAt	p.G2193D	CACNA1G_ENST00000358244.5_Missense_Mutation_p.G2114D|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G2241D|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G2320D|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G2275D|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G2234D|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G2193D|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G2170D|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G2220D|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G2186D|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G2175D|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G2309D|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G2230D|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G2204D|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G2209D|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G2249D|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G2257D|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G2216D|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G2286D|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G2148D|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G2137D|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G2182D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G2264D|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G2227D|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G2202D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2320					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGAGCCAAGGTCCTCGGACC	0.667											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:48703937	0	A	48703937	G	A	48703937	3	1	88	1	0	0	0	0	1	0	0	0	2564	1261	44	2	7376	2	CACNA1G	17	48703937	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2191	48703937	32491273	16804	24516											
ABCC3	8714	broad.mit.edu	37	chr17	48733272	48733272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctggcctgggtgccctGcatctacctgtgggtcgccc	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48733272G>A	ENST00000285238.8	+	2	205	c.125G>A	c.(124-126)tGc>tAc	p.C42Y	ABCC3_ENST00000427699.1_Missense_Mutation_p.C42Y	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	42				C -> R (in Ref. 5; CAA76658).	bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGGGTGCCCTGCATCTACCTG	0.587													False	0	False	17:48733272	0	A	48733272	G	A	48733272	3	1	88	1	0	0	0	0	1	0	0	0	54	1319	46	2	131	2	ABCC3	17	48733272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29335	48733272	32461938	16805	24517											
ABCC3	8714	broad.mit.edu	37	chr17	48746712	48746712	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaaatttctcctgtggccaGggctccgtggcctatgtgcc	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48746712G>T	ENST00000285238.8	+	17	2144		c.e17-1			NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTGTGGCCAGGGCTCCGTGG	0.607													False	0	True	17:48746712	0	T	48746712	G	T	48746712	5	4	88	1	0	0	0	0	0	0	1	0	54	1014	35	3	2214	3	ABCC3	17	48746712	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13440	48746712	32448498	16806	24518											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917794	48917794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcctgcatgagcgggcCgctggccgcgtgcagcctgc	17	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48917794C>T	ENST00000311378.4	+	2	1673	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P289L	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	382						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATGAGCGGGCCGCTGGCCGCG	0.652													False	0	False	17:48917794	0	T	48917794	C	T	48917794	3	4	88	1	0	0	0	0	1	0	0	0	17443	652	23	1	1151	1	WFIKKN2	17	48917794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171082	48917794	32277416	16807	24519											
WFIKKN2	124857	broad.mit.edu	37	chr17	48918254	48918254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatgggggaggtggacggCggcatggccatgctgcgccc	18	11	1	0	rs146313081		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48918254C>T	ENST00000311378.4	+	2	2133	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Silent_p.G442G	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	535	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGGTGGACGGCGGCATGGCCA	0.632													False	0	False	17:48918254	0	T	48918254	C	T	48918254	2	4	88	1	0	0	0	0	0	0	0	1	17443	755	27	1		1	WFIKKN2	17	48918254	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	460	48918254	32276956	16808	24520											
SPAG9	9043	broad.mit.edu	37	chr17	49064500	49064500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagctccaagccacataGttggtaaaagactactcatt	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49064500G>A	ENST00000262013.7	-	22	3120	c.2912C>T	c.(2911-2913)aCt>aTt	p.T971I	SPAG9_ENST00000505279.1_Missense_Mutation_p.T961I|SPAG9_ENST00000357122.4_Missense_Mutation_p.T957I|SPAG9_ENST00000510283.1_Missense_Mutation_p.T814I	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	971					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AAGCCACATAGTTGGTAAAAG	0.348													False	0	False	17:49064500	0	A	49064500	G	A	49064500	3	1	88	1	0	0	0	0	1	0	0	0	15067	1029	36	2	1089	2	SPAG9	17	49064500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146246	49064500	32130710	16809	24521											
SPAG9	9043	broad.mit.edu	37	chr17	49075897	49075897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggacggagtaacatgagaCgtgggtgcattgtacttcag	14	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49075897C>T	ENST00000262013.7	-	15	1954	c.1746G>A	c.(1744-1746)acG>acA	p.T582T	SPAG9_ENST00000505279.1_Silent_p.T572T|SPAG9_ENST00000357122.4_Silent_p.T568T|SPAG9_ENST00000510283.1_Silent_p.T425T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	582					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TAACATGAGACGTGGGTGCAT	0.443													False	0	False	17:49075897	0	T	49075897	C	T	49075897	2	4	88	1	0	0	0	0	0	0	0	1	15067	523	19	1		1	SPAG9	17	49075897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11397	49075897	32119313	16810	24522											
NME1	4830	broad.mit.edu	37	chr17	49239138	49239138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgcagagaaggagatcGgcttgtggtttcaccctgag	15	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49239138G>A	ENST00000336097.3	+	6	702	c.466G>A	c.(466-468)Ggc>Agc	p.G156S	NME2_ENST00000393193.2_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.G156S|NME1-NME2_ENST00000393198.3_Intron|NME1_ENST00000393196.3_Missense_Mutation_p.G131S|NME1_ENST00000511355.1_3'UTR|NME2_ENST00000376392.6_Intron|NME2_ENST00000555572.1_Intron|NME1-NME2_ENST00000608447.1_Intron	NM_198175.1	NP_937818.1			NME/NM23 nucleoside diphosphate kinase 1											endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAAGGAGATCGGCTTGTGGTT	0.468													False	0	False	17:49239138	0	A	49239138	G	A	49239138	3	1	88	1	0	0	0	0	1	0	0	0	10557	1116	39	1	484	1	NME1	17	49239138	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163241	49239138	31956072	16811	24523											
NME2	4831	broad.mit.edu	37	chr17	49244308	49244308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgcctcgtggccatgaaGttcctccgggtaactcgccc	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49244308G>A	ENST00000555572.1	+	6	713	c.537G>A	c.(535-537)aaG>aaA	p.K179K	NME2_ENST00000393193.2_Silent_p.K154K|NME1-NME2_ENST00000393198.3_Silent_p.K154K|NME1-NME2_ENST00000393190.1_Silent_p.K39K|NME1-NME2_ENST00000393185.1_5'UTR|NME2_ENST00000376392.6_Silent_p.K154K|NME1-NME2_ENST00000393183.3_5'UTR|NME1-NME2_ENST00000514264.2_Silent_p.K39K|NME1-NME2_ENST00000608447.1_Silent_p.K179K|NME1-NME2_ENST00000512737.1_Silent_p.K39K|NME1-NME2_ENST00000503064.1_Silent_p.K39K|NME1-NME2_ENST00000513177.1_Silent_p.K39K					NME/NM23 nucleoside diphosphate kinase 2											endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TGGCCATGAAGTTCCTCCGGG	0.667											OREG0024580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:49244308	0	A	49244308	G	A	49244308	2	1	88	1	0	0	0	0	0	0	0	1	10559	1020	36	2		2	NME2	17	49244308	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5170	49244308	31950902	16812	24524											
MBTD1	0	broad.mit.edu	37	chr17	49272664	49272664	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catggtaacagaaccagtcaGatccgtctgctgcttctgag	10	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49272664G>T	ENST00000586178.1	-	13	1626	c.1283C>A	c.(1282-1284)tCt>tAt	p.S428Y	MBTD1_ENST00000376381.2_Intron|MBTD1_ENST00000415868.1_Missense_Mutation_p.S428Y	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	428					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAACCAGTCAGATCCGTCTGC	0.433													False	0	False	17:49272664	0	T	49272664	G	T	49272664	3	4	88	1	0	0	0	0	1	0	0	0	9427	942	33	3	623	3	MBTD1	17	49272664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28356	49272664	31922546	16813	24525											
KIF2B	84643	broad.mit.edu	37	chr17	51900373	51900373	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagggccctggagcgctcCctgatacctccatcactcac	8	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900373C>A	ENST00000268919.4	+	0	135					NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B						blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAGCGCTCCCTGATACCTC	0.612													False	0	True	17:51900373	0	A	51900373	C	A	51900373	1	1	88	1	0	0	0	0	0	0	0	0	8348	638	22	3		3	KIF2B	17	51900373	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2627709	51900373	29294837	16814	24526											
KIF2B	84643	broad.mit.edu	37	chr17	51900714	51900714	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccctcttcggccatcaGggaccagcgtaccgccacga	12	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900714G>T	ENST00000268919.4	+	1	476	c.320G>T	c.(319-321)aGg>aTg	p.R107M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	107					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCGGCCATCAGGGACCAGCGT	0.607													False	0	True	17:51900714	0	T	51900714	G	T	51900714	3	4	88	1	0	0	0	0	1	0	0	0	8348	1000	35	3	322	3	KIF2B	17	51900714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	341	51900714	29294496	16815	24527											
KIF2B	84643	broad.mit.edu	37	chr17	51900974	51900974	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcacatgatcgaagagTatcgcaggcacctggacagc	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900974T>G	ENST00000268919.4	+	1	736	c.580T>G	c.(580-582)Tat>Gat	p.Y194D		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	194					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATCGAAGAGTATCGCAGGCA	0.577													False	0	False	17:51900974	0	G	51900974	T	G	51900974	3	3	88	1	0	0	0	0	1	0	0	0	8348	1638	57	4	582	4	KIF2B	17	51900974	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	260	51900974	29294236	16816	24528											
KIF2B	84643	broad.mit.edu	37	chr17	51901131	51901131	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcggacaatgtggttatggTgcatgagtccaagcaaaagg	13	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901131T>C	ENST00000268919.4	+	1	893	c.737T>C	c.(736-738)gTg>gCg	p.V246A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	246	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGGTTATGGTGCATGAGTCC	0.547													False	0	False	17:51901131	0	C	51901131	T	C	51901131	3	2	88	1	0	0	0	0	1	0	0	0	8348	1696	59	4	739	4	KIF2B	17	51901131	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	157	51901131	29294079	16817	24529											
KIF2B	84643	broad.mit.edu	37	chr17	51901392	51901392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatttatgctctggtggCacaggatgtctttctcctgc	12	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901392C>T	ENST00000268919.4	+	1	1154	c.998C>T	c.(997-999)gCa>gTa	p.A333V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	333	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCTCTGGTGGCACAGGATGTC	0.478													False	0	False	17:51901392	0	T	51901392	C	T	51901392	3	4	88	1	0	0	0	0	1	0	0	0	8348	710	25	2	1000	2	KIF2B	17	51901392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261	51901392	29293818	16818	24530											
KIF2B	84643	broad.mit.edu	37	chr17	51901512	51901512	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgaactggaagaagaAgctgcaagtccttgaggatg	13	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901512A>T	ENST00000268919.4	+	1	1274	c.1118A>T	c.(1117-1119)aAg>aTg	p.K373M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	373	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAAGAAGAAGCTGCAAGTC	0.463													False	0	True	17:51901512	0	T	51901512	A	T	51901512	3	4	88	1	0	0	0	0	1	0	0	0	8348	72	3	5	1120	5	KIF2B	17	51901512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	120	51901512	29293698	16819	24531											
TOM1L1	10040	broad.mit.edu	37	chr17	53027406	53027406	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctttttttgcccaaagCgatgacaaaaagtgatctcc	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53027406C>T	ENST00000575882.1	+	14	1642	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	TOM1L1_ENST00000348161.4_Splice_Site_p.A353V|TOM1L1_ENST00000445275.2_Splice_Site_p.A419V|TOM1L1_ENST00000536554.1_Splice_Site_p.A353V|TOM1L1_ENST00000572158.1_Splice_Site_p.A423V|TOM1L1_ENST00000540336.1_Splice_Site_p.A318V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	430					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTGCCCAAAGCGATGACAAAA	0.358													False	0	False	17:53027406	0	T	53027406	C	T	53027406	5	4	88	1	0	0	0	0	0	0	1	0	16434	782	27	1	1343	1	TOM1L1	17	53027406	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1125894	53027406	28167804	16820	24532											
TOM1L1	10040	broad.mit.edu	37	chr17	53037950	53037950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttatgaagaaattgatgCtcaccagcacaaaggagctc	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53037950C>T	ENST00000575882.1	+	15	1747	c.1394C>T	c.(1393-1395)gCt>gTt	p.A465V	TOM1L1_ENST00000348161.4_Missense_Mutation_p.A388V|TOM1L1_ENST00000445275.2_Missense_Mutation_p.A454V|TOM1L1_ENST00000536554.1_Missense_Mutation_p.A388V|COX11_ENST00000573912.1_Intron|TOM1L1_ENST00000572158.1_Missense_Mutation_p.A458V|TOM1L1_ENST00000540336.1_Missense_Mutation_p.A353V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	465					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GAAATTGATGCTCACCAGCAC	0.343													False	0	False	17:53037950	0	T	53037950	C	T	53037950	3	4	88	1	0	0	0	0	1	0	0	0	16434	797	28	2	1452	2	TOM1L1	17	53037950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10544	53037950	28157260	16821	24533											
PCTP	58488	broad.mit.edu	37	chr17	53848535	53848535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtacccttttcccatgTccaacagagacgtatccttt	6	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53848535T>C	ENST00000576183.1	+	3	371	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PCTP_ENST00000573500.1_Missense_Mutation_p.S110P|PCTP_ENST00000325214.6_Missense_Mutation_p.S38P|PCTP_ENST00000268896.5_Missense_Mutation_p.S110P			Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	110	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TTTTCCCATGTCCAACAGAGA	0.458													False	0	False	17:53848535	0	C	53848535	T	C	53848535	3	2	88	1	0	0	0	0	1	0	0	0	11675	1667	58	4	338	4	PCTP	17	53848535	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	810585	53848535	27346675	16822	24534											
ANKFN1	162282	broad.mit.edu	37	chr17	54520268	54520268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggggacctgctcagaccaCgacaccggcatgtgcctctc	11	15	2	1	rs145617071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54520268C>T	ENST00000566473.2	+	9	1082	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M	ANKFN1_ENST00000318698.2_Missense_Mutation_p.T361M			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	361	Fibronectin type-III.							p.T361M(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTCAGACCACGACACCGGCA	0.483													False	0	False	17:54520268	0	T	54520268	C	T	54520268	3	4	88	1	0	0	0	0	1	0	0	0	625	536	19	1	1116	1	ANKFN1	17	54520268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	671733	54520268	26674942	16823	24535											
ANKFN1	162282	broad.mit.edu	37	chr17	54554920	54554920	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatctgggttacctaaagctCtgtagctctgtggatcaaat	9	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54554920C>A	ENST00000566473.2	+	15	1854	c.1854C>A	c.(1852-1854)ctC>ctA	p.L618L	ANKFN1_ENST00000318698.2_Silent_p.L618L			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	618										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACCTAAAGCTCTGTAGCTCTG	0.368													False	0	False	17:54554920	0	A	54554920	C	A	54554920	2	1	88	1	0	0	0	0	0	0	0	1	625	900	32	3		3	ANKFN1	17	54554920	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34652	54554920	26640290	16824	24536											
C17orf67	339210	broad.mit.edu	37	chr17	54872520	54872520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcgcgatgctccagggCgagcaggtggtgcatgtatt	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54872520C>T	ENST00000397861.2	-	7	1457	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	C17orf67_ENST00000575658.1_Missense_Mutation_p.A84T|C17orf67_ENST00000397862.2_Missense_Mutation_p.A84T			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	84						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TGCTCCAGGGCGAGCAGGTGG	0.552													False	0	True	17:54872520	0	T	54872520	C	T	54872520	3	4	88	1	0	0	0	0	1	0	0	0	1887	768	27	1	98	1	C17orf67	17	54872520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317600	54872520	26322690	16825	24537											
C17orf67	339210	broad.mit.edu	37	chr17	54893177	54893177	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaatgtcttcatcctgcCttggttcctctgcctcttgc	8	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54893177C>A	ENST00000397861.2	-	0	1274				C17orf67_ENST00000575658.1_Missense_Mutation_p.G23C|C17orf67_ENST00000397862.2_Missense_Mutation_p.G23C			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67							extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TTCATCCTGCCTTGGTTCCTC	0.507													False	0	False	17:54893177	0	A	54893177	C	A	54893177	1	1	88	1	0	0	0	0	0	0	0	0	1887	681	24	3		3	C17orf67	17	54893177	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20657	54893177	26302033	16826	24538											
DGKE	8526	broad.mit.edu	37	chr17	54925319	54925319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactcctcctatcaaagccCtacaactctgtactcttctc	2	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54925319C>T	ENST00000284061.3	+	5	961	c.781C>T	c.(781-783)Cta>Tta	p.L261L		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	261	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TATCAAAGCCCTACAACTCTG	0.383													False	0	True	17:54925319	0	T	54925319	C	T	54925319	2	4	88	1	0	0	0	0	0	0	0	1	4498	680	24	2		2	DGKE	17	54925319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32142	54925319	26269891	16827	24539											
DGKE	8526	broad.mit.edu	37	chr17	54939214	54939214	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtattatagttctgaacatCggatactggggcggtggctg	15	6	1	1	rs117438162	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54939214C>T	ENST00000284061.3	+	10	1527	c.1347C>T	c.(1345-1347)atC>atT	p.I449I		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	449					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTCTGAACATCGGATACTGGG	0.458													False	0	False	17:54939214	0	T	54939214	C	T	54939214	2	4	88	1	0	0	0	0	0	0	0	1	4498	874	31	1		1	DGKE	17	54939214	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13895	54939214	26255996	16828	24540											
AKAP1	8165	broad.mit.edu	37	chr17	55183680	55183680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcaaaggacgatgcggcGccagcacccccagtcgcaga	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55183680G>A	ENST00000337714.3	+	2	1088	c.855G>A	c.(853-855)gcG>gcA	p.A285A	AKAP1_ENST00000314126.3_Silent_p.A285A|AKAP1_ENST00000572557.1_Silent_p.A285A|AKAP1_ENST00000571629.1_Silent_p.A285A|AKAP1_ENST00000539273.1_Silent_p.A285A	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	285					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					ACGATGCGGCGCCAGCACCCC	0.572													False	0	False	17:55183680	0	A	55183680	G	A	55183680	2	1	88	1	0	0	0	0	0	0	0	1	445	1074	38	1		1	AKAP1	17	55183680	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244466	55183680	26011530	16829	24541											
MSI2	0	broad.mit.edu	37	chr17	55335665	55335665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacgttcgcagacccagcaAgtgtagataaagtattaggt	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55335665A>G	ENST00000284073.2	+	4	429	c.220A>G	c.(220-222)Agt>Ggt	p.S74G	MSI2_ENST00000322684.3_Missense_Mutation_p.S70G|MSI2_ENST00000416426.2_Missense_Mutation_p.S52G	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	74	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AGACCCAGCAAGTGTAGATAA	0.458			T	HOXA9	CML								False	0	False	17:55335665	0	G	55335665	A	G	55335665	3	3	88	1	0	0	0	0	1	0	0	0	9943	72	3	4	284	4	MSI2	17	55335665	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	151985	55335665	25859545	16830	24542											
MSI2	0	broad.mit.edu	37	chr17	55752391	55752391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcccaggacctgtcgcCgatctctacggccctgccag	10	17	1	0	rs141534185	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55752391C>T	ENST00000284073.2	+	12	1058	c.849C>T	c.(847-849)gcC>gcT	p.A283A	MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Silent_p.A222A|MSI2_ENST00000416426.2_Silent_p.A279A	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	283						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GACCTGTCGCCGATCTCTACG	0.682			T	HOXA9	CML								False	0	False	17:55752391	0	T	55752391	C	T	55752391	2	4	88	1	0	0	0	0	0	0	0	1	9943	639	23	1		1	MSI2	17	55752391	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	416726	55752391	25442819	16831	24543											
MRPS23	51649	broad.mit.edu	37	chr17	55917297	55917297	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtgactacctccgtgttgCttaaaagaccagatttaagt	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55917297C>A	ENST00000313608.8	-	5	466		c.e5-1			NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23						translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					CTCCGTGTTGCTTAAAAGACC	0.403													False	0	False	17:55917297	0	A	55917297	C	A	55917297	5	1	88	1	0	0	0	0	0	0	1	0	9901	811	28	3	156	3	MRPS23	17	55917297	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164906	55917297	25277913	16832	24544											
VEZF1	7716	broad.mit.edu	37	chr17	56058141	56058141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggtggcaaaggcagcagTgcacgtctgcatgagggagg	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56058141T>C	ENST00000584396.1	-	4	860	c.772A>G	c.(772-774)Act>Gct	p.T258A	VEZF1_ENST00000581208.1_Missense_Mutation_p.T267A			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	267					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AAGGCAGCAGTGCACGTCTGC	0.448													False	0	False	17:56058141	0	C	56058141	T	C	56058141	3	2	88	1	0	0	0	0	1	0	0	0	17239	1696	59	4	778	4	VEZF1	17	56058141	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140844	56058141	25137069	16833	24545											
OR4D2	124538	broad.mit.edu	37	chr17	56247439	56247439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgaacactcagctctgGgtggggctggtggtagccac	15	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56247439G>T	ENST00000545221.1	+	1	423	c.423G>T	c.(421-423)tgG>tgT	p.W141C		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTCAGCTCTGGGTGGGGCTGG	0.592													False	0	True	17:56247439	0	T	56247439	G	T	56247439	3	4	88	1	0	0	0	0	1	0	0	0	11124	1241	43	3	425	3	OR4D2	17	56247439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189298	56247439	24947771	16834	24546											
OR4D2	124538	broad.mit.edu	37	chr17	56247902	56247902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaaccaggacatgcagGcagcagtgagaagattaggg	16	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56247902G>T	ENST00000545221.1	+	1	886	c.886G>T	c.(886-888)Gca>Tca	p.A296S		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A296T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GGACATGCAGGCAGCAGTGAG	0.512													False	0	True	17:56247902	0	T	56247902	G	T	56247902	3	4	88	1	0	0	0	0	1	0	0	0	11124	1203	42	3	888	3	OR4D2	17	56247902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	463	56247902	24947308	16835	24547											
EPX	8288	broad.mit.edu	37	chr17	56270749	56270749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcaagcagcggcttcGcagcggttcagccagcccca	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56270749G>A	ENST00000225371.5	+	3	298	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	63					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.R63H(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CAGCGGCTTCGCAGCGGTTCA	0.612													False	0	False	17:56270749	0	A	56270749	G	A	56270749	3	1	88	1	0	0	0	0	1	0	0	0	5232	1087	38	1	198	1	EPX	17	56270749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22847	56270749	24924461	16836	24548											
EPX	8288	broad.mit.edu	37	chr17	56271324	56271324	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcccacccatggctgcagGaggagacccttgctaggggc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56271324G>A	ENST00000225371.5	+	5	575	c.465G>A	c.(463-465)aaG>aaA	p.K155K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	155					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						ATGGCTGCAGGAGGAGACCCT	0.672													False	0	False	17:56271324	0	A	56271324	G	A	56271324	5	1	88	1	0	0	0	0	0	0	1	0	5232	1188	41	2	483	2	EPX	17	56271324	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	575	56271324	24923886	16837	24549											
EPX	8288	broad.mit.edu	37	chr17	56274612	56274612	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcgcatcccctgcttcCtggcaggtcagacagggagg	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56274612C>A	ENST00000225371.5	+	7	1224	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	372					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCCTGCTTCCTGGCAGGTCA	0.622													False	0	False	17:56274612	0	A	56274612	C	A	56274612	3	1	88	1	0	0	0	0	1	0	0	0	5232	680	24	3	1140	3	EPX	17	56274612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3288	56274612	24920598	16838	24550											
EPX	8288	broad.mit.edu	37	chr17	56276417	56276417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtgacacccgatcaacGgaaacccccaaactggcagc	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56276417G>A	ENST00000225371.5	+	8	1247	c.1137G>A	c.(1135-1137)acG>acA	p.T379T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	379					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCGATCAACGGAAACCCCCA	0.567													False	0	False	17:56276417	0	A	56276417	G	A	56276417	2	1	88	1	0	0	0	0	0	0	0	1	5232	1103	39	1		1	EPX	17	56276417	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1805	56276417	24918793	16839	24551											
EPX	8288	broad.mit.edu	37	chr17	56281654	56281654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcagaatttccttgtctcGaattatatgtgacaataccg	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56281654G>A	ENST00000225371.5	+	12	2128	c.2018G>A	c.(2017-2019)cGa>cAa	p.R673Q		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	673					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.R673Q(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCCTTGTCTCGAATTATATGT	0.512													False	0	False	17:56281654	0	A	56281654	G	A	56281654	3	1	88	1	0	0	0	0	1	0	0	0	5232	1058	37	1	2064	1	EPX	17	56281654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5237	56281654	24913556	16840	24552											
MKS1	54903	broad.mit.edu	37	chr17	56292170	56292170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagaatgaaggcacctcGctggctgcagtggtcattct	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56292170G>A	ENST00000393119.2	-	5	521	c.447C>T	c.(445-447)agC>agT	p.S149S	MKS1_ENST00000537529.2_Silent_p.S139S|MKS1_ENST00000546108.1_Intron|MKS1_ENST00000337050.7_Silent_p.S149S|MKS1_ENST00000313863.6_Silent_p.S149S	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	149					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGGCACCTCGCTGGCTGCAG	0.592													False	0	True	17:56292170	0	A	56292170	G	A	56292170	2	1	88	1	0	0	0	0	0	0	0	1	9676	1078	38	1		1	MKS1	17	56292170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10516	56292170	24903040	16841	24553											
LPO	0	broad.mit.edu	37	chr17	56326965	56326965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgccaacagggctctggCgcgctggctgcccgcggagt	16	16	1	0	rs140216571		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56326965C>T	ENST00000262290.4	+	6	798	c.482C>T	c.(481-483)gCg>gTg	p.A161V	LPO_ENST00000421678.2_Missense_Mutation_p.A78V|LPO_ENST00000543544.1_Missense_Mutation_p.A102V|LPO_ENST00000582328.1_Missense_Mutation_p.A78V	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	161					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGGGCTCTGGCGCGCTGGCTG	0.716													False	0	True	17:56326965	0	T	56326965	C	T	56326965	3	4	88	1	0	0	0	0	1	0	0	0	8984	768	27	1	500	1	LPO	17	56326965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34795	56326965	24868245	16842	24554											
LPO	0	broad.mit.edu	37	chr17	56326984	56326984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgctggctgcccgcggaGtacgaggacgggctctccct	16	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56326984G>T	ENST00000262290.4	+	6	817	c.501G>T	c.(499-501)gaG>gaT	p.E167D	LPO_ENST00000421678.2_Missense_Mutation_p.E84D|LPO_ENST00000543544.1_Missense_Mutation_p.E108D|LPO_ENST00000582328.1_Missense_Mutation_p.E84D	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	167					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGCCCGCGGAGTACGAGGACG	0.726													False	0	False	17:56326984	0	T	56326984	G	T	56326984	3	4	88	1	0	0	0	0	1	0	0	0	8984	1020	36	3	519	3	LPO	17	56326984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	56326984	24868226	16843	24555											
LPO	0	broad.mit.edu	37	chr17	56342265	56342265	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcctggatgagaattatcaGccatgggggccagaaccaga	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56342265G>T	ENST00000262290.4	+	10	1765	c.1449G>T	c.(1447-1449)caG>caT	p.Q483H	LPO_ENST00000421678.2_Missense_Mutation_p.Q400H|LPO_ENST00000543544.1_Missense_Mutation_p.Q424H|LPO_ENST00000582328.1_Missense_Mutation_p.Q400H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	483					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGAATTATCAGCCATGGGGGC	0.522													False	0	False	17:56342265	0	T	56342265	G	T	56342265	3	4	88	1	0	0	0	0	1	0	0	0	8984	962	34	3	1483	3	LPO	17	56342265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15281	56342265	24852945	16844	24556											
LPO	0	broad.mit.edu	37	chr17	56343534	56343534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaattgatcctctggtgCggggcctgctggccaagaaa	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56343534C>T	ENST00000262290.4	+	11	1856	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	LPO_ENST00000421678.2_Missense_Mutation_p.R431W|LPO_ENST00000543544.1_Missense_Mutation_p.R455W|LPO_ENST00000582328.1_Missense_Mutation_p.R431W	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	514			R -> Q (in dbSNP:rs8178401).		hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCCTCTGGTGCGGGGCCTGCT	0.532													False	0	True	17:56343534	0	T	56343534	C	T	56343534	3	4	88	1	0	0	0	0	1	0	0	0	8984	759	27	1	1578	1	LPO	17	56343534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1269	56343534	24851676	16845	24557											
MPO	4353	broad.mit.edu	37	chr17	56355451	56355451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggcaagccgggcaggagCggaagaacgggatgcagtcg	20	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56355451C>T	ENST00000340482.3	-	6	1213	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000225275.3_Missense_Mutation_p.R314H			P05164	PERM_HUMAN	myeloperoxidase	314					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CGGGCAGGAGCGGAAGAACGG	0.622													False	0	False	17:56355451	0	T	56355451	C	T	56355451	3	4	88	1	0	0	0	0	1	0	0	0	9799	768	27	1	1320	1	MPO	17	56355451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11917	56355451	24839759	16846	24558											
MPO	4353	broad.mit.edu	37	chr17	56356920	56356920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtgatggtgcggtatttgTcctgctccgggcaagtcacc	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56356920T>C	ENST00000340482.3	-	4	688	c.512A>G	c.(511-513)gAc>gGc	p.D171G	MPO_ENST00000225275.3_Missense_Mutation_p.D171G			P05164	PERM_HUMAN	myeloperoxidase	171					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GCGGTATTTGTCCTGCTCCGG	0.652													False	0	False	17:56356920	0	C	56356920	T	C	56356920	3	2	88	1	0	0	0	0	1	0	0	0	9799	1667	58	4	1761	4	MPO	17	56356920	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1469	56356920	24838290	16847	24559											
BZRAP1	9256	broad.mit.edu	37	chr17	56387922	56387922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcctccttggcacatcTcggtatttggcgcctgctgg	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56387922T>C	ENST00000355701.3	-	20	4520	c.3650A>G	c.(3649-3651)gAg>gGg	p.E1217G	BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1217G|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1157G	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1217						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGGCACATCTCGGTATTTGG	0.647													False	0	False	17:56387922	0	C	56387922	T	C	56387922	3	2	88	1	0	0	0	0	1	0	0	0	1584	1551	54	4	1971	4	BZRAP1	17	56387922	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31002	56387922	24807288	16848	24560											
BZRAP1	9256	broad.mit.edu	37	chr17	56389337	56389337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagggcccttggggtgggaGctgagcctccacttgggcct	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56389337G>T	ENST00000355701.3	-	17	3715	c.2845C>A	c.(2845-2847)Ctc>Atc	p.L949I	BZRAP1_ENST00000343736.4_Missense_Mutation_p.L949I|BZRAP1_ENST00000268893.6_Missense_Mutation_p.L889I	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	949	Fibronectin type-III 2.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGGGTGGGAGCTGAGCCTCC	0.657													False	0	False	17:56389337	0	T	56389337	G	T	56389337	3	4	88	1	0	0	0	0	1	0	0	0	1584	971	34	3	2788	3	BZRAP1	17	56389337	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1415	56389337	24805873	16849	24561											
BZRAP1	9256	broad.mit.edu	37	chr17	56389920	56389920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacactgctttggcccccGctactgctgccacccccacc	6	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56389920G>A	ENST00000355701.3	-	17	3132	c.2262C>T	c.(2260-2262)agC>agT	p.S754S	BZRAP1_ENST00000343736.4_Silent_p.S754S|BZRAP1_ENST00000268893.6_Silent_p.S694S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	754						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTGGCCCCCGCTACTGCTGC	0.642													False	0	True	17:56389920	0	A	56389920	G	A	56389920	2	1	88	1	0	0	0	0	0	0	0	1	1584	1078	38	1		1	BZRAP1	17	56389920	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	583	56389920	24805290	16850	24562											
RNF43	54894	broad.mit.edu	37	chr17	56435680	56435680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccatggaccccctgtaggCtgatgtccgtgcagttgacc	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56435680C>A	ENST00000584437.1	-	8	3412	c.1457G>T	c.(1456-1458)aGc>aTc	p.S486I	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Missense_Mutation_p.S445I|RNF43_ENST00000577716.1_Missense_Mutation_p.S486I|RNF43_ENST00000577625.1_Missense_Mutation_p.S359I|RNF43_ENST00000583753.1_Missense_Mutation_p.S445I|RNF43_ENST00000407977.2_Missense_Mutation_p.S486I|RNF43_ENST00000581868.1_Missense_Mutation_p.S359I			Q68DV7	RNF43_HUMAN	ring finger protein 43	486	Ser-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCTGTAGGCTGATGTCCGT	0.587													False	0	False	17:56435680	0	A	56435680	C	A	56435680	3	1	88	1	0	0	0	0	1	0	0	0	13574	797	28	3	902	3	RNF43	17	56435680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45760	56435680	24759530	16851	24563											
RNF43	54894	broad.mit.edu	37	chr17	56440681	56440681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcacatgggccttttgGttcttgtacacaaactccat	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56440681G>A	ENST00000584437.1	-	4	2492	c.537C>T	c.(535-537)aaC>aaT	p.N179N	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Silent_p.N138N|RNF43_ENST00000577716.1_Silent_p.N179N|RNF43_ENST00000577625.1_Silent_p.N52N|RNF43_ENST00000583753.1_Silent_p.N138N|RNF43_ENST00000407977.2_Silent_p.N179N|RNF43_ENST00000581868.1_Silent_p.N52N			Q68DV7	RNF43_HUMAN	ring finger protein 43	179						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGCCTTTTGGTTCTTGTACA	0.567													False	0	False	17:56440681	0	A	56440681	G	A	56440681	2	1	88	1	0	0	0	0	0	0	0	1	13574	1252	44	2		2	RNF43	17	56440681	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5001	56440681	24754529	16852	24564											
HSF5	124535	broad.mit.edu	37	chr17	56557601	56557601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactatctcgacgaaatgacCggtgaaattgtcctacagcc	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56557601C>T	ENST00000323777.3	-	2	687	c.578G>A	c.(577-579)cGg>cAg	p.R193Q		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	193						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGAAATGACCGGTGAAATTG	0.428													False	0	False	17:56557601	0	T	56557601	C	T	56557601	3	4	88	1	0	0	0	0	1	0	0	0	7446	652	23	1	1232	1	HSF5	17	56557601	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116920	56557601	24637609	16853	24565											
HSF5	124535	broad.mit.edu	37	chr17	56565462	56565462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgcagtcccgccaccGccccccggcccgggcgggct	13	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56565462G>A	ENST00000323777.3	-	1	283	c.174C>T	c.(172-174)ggC>ggT	p.G58G		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	58						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					tcccgccaccgccccccggcc	0.716													False	0	True	17:56565462	0	A	56565462	G	A	56565462	2	1	88	1	0	0	0	0	0	0	0	1	7446	1074	38	1		1	HSF5	17	56565462	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7861	56565462	24629748	16854	24566											
MTMR4	9110	broad.mit.edu	37	chr17	56569901	56569901	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtcttcgtttggccaaccaGaattcacagtcacagttata	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56569901G>T	ENST00000323456.5	-	18	3505	c.3381C>A	c.(3379-3381)ttC>ttA	p.F1127L	MTMR4_ENST00000579925.1_Missense_Mutation_p.F1070L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1127						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGCCAACCAGAATTCACAGT	0.453													False	0	False	17:56569901	0	T	56569901	G	T	56569901	3	4	88	1	0	0	0	0	1	0	0	0	10013	933	33	3	214	3	MTMR4	17	56569901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4439	56569901	24625309	16855	24567											
MTMR4	9110	broad.mit.edu	37	chr17	56572543	56572543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgctagagacttgctttGgatgactggacaaccacatc	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56572543G>A	ENST00000323456.5	-	16	3084	c.2960C>T	c.(2959-2961)cCa>cTa	p.P987L	MTMR4_ENST00000579925.1_Missense_Mutation_p.P930L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	987						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACTTGCTTTGGATGACTGGA	0.507													False	0	True	17:56572543	0	A	56572543	G	A	56572543	3	1	88	1	0	0	0	0	1	0	0	0	10013	1348	47	2	643	2	MTMR4	17	56572543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2642	56572543	24622667	16856	24568											
MTMR4	9110	broad.mit.edu	37	chr17	56584573	56584573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccgggtccagggcacagGctttagcaatggacgtgacc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56584573G>T	ENST00000323456.5	-	9	897	c.773C>A	c.(772-774)gCc>gAc	p.A258D	MTMR4_ENST00000579925.1_Missense_Mutation_p.A258D	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	258	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGGCACAGGCTTTAGCAAT	0.617													False	0	False	17:56584573	0	T	56584573	G	T	56584573	3	4	88	1	0	0	0	0	1	0	0	0	10013	1203	42	3	2858	3	MTMR4	17	56584573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12030	56584573	24610637	16857	24569											
MTMR4	9110	broad.mit.edu	37	chr17	56586165	56586165	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctcggcttagccgtgagaGccactcttggcactgcttaa	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56586165G>T	ENST00000323456.5	-	6	455	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	MTMR4_ENST00000579925.1_Missense_Mutation_p.L111I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	111						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCCGTGAGAGCCACTCTTGG	0.587													False	0	False	17:56586165	0	T	56586165	G	T	56586165	3	4	88	1	0	0	0	0	1	0	0	0	10013	971	34	3	3312	3	MTMR4	17	56586165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1592	56586165	24609045	16858	24570											
SEPT4	5414	broad.mit.edu	37	chr17	56598178	56598178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacagcagggatggggaagtCggtaccactttcccgagtca	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56598178C>T	ENST00000457347.2	-	12	1492	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	SEPT4_ENST00000580844.1_Missense_Mutation_p.D336N|SEPT4_ENST00000412945.3_Missense_Mutation_p.D427N|SEPT4_ENST00000317256.6_Missense_Mutation_p.D416N|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000393086.1_Missense_Mutation_p.D416N|SEPT4_ENST00000583114.1_Missense_Mutation_p.D288N|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000317268.3_Missense_Mutation_p.D435N|SEPT4_ENST00000426861.1_3'UTR	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN	septin 4	435					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGGGGAAGTCGGTACCACTT	0.537											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:56598178	0	T	56598178	C	T	56598178	3	4	88	1	0	0	0	0	1	0	0	0	14147	884	31	1	141	1	SEPT4	17	56598178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12013	56598178	24597032	16859	24571											
SEPT4	5414	broad.mit.edu	37	chr17	56599357	56599357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtgagatgaagtacagGcagcagtgcaccctgttgtc	14	8	0	2	rs144640338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56599357G>A	ENST00000426861.1	-	6	797	c.711C>T	c.(709-711)tgC>tgT	p.C237C	SEPT4_ENST00000580844.1_Silent_p.C157C|SEPT4_ENST00000412945.3_Silent_p.C248C|SEPT4_ENST00000317256.6_Silent_p.C237C|SEPT4_ENST00000457347.2_Silent_p.C271C|SEPT4_ENST00000579371.1_Silent_p.C157C|SEPT4_ENST00000393086.1_Silent_p.C237C|SEPT4_ENST00000583114.1_Silent_p.C109C|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580809.1_Silent_p.C138C|SEPT4_ENST00000317268.3_Silent_p.C256C	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN	septin 4	256					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGTACAGGCAGCAGTGCA	0.562													False	0	False	17:56599357	0	A	56599357	G	A	56599357	2	1	88	1	0	0	0	0	0	0	0	1	14147	1195	42	2		2	SEPT4	17	56599357	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1179	56599357	24595853	16860	24572											
TEX14	56155	broad.mit.edu	37	chr17	56651552	56651552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctttggtgatcatacatgtCtttctctttcagttcctttg	6	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56651552C>A	ENST00000389934.3	-	23	3616	c.3499G>T	c.(3499-3501)Gac>Tac	p.D1167Y	TEX14_ENST00000349033.5_Missense_Mutation_p.D1127Y|TEX14_ENST00000240361.8_Missense_Mutation_p.D1173Y	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1173						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCATACATGTCTTTCTCTTTC	0.353													False	0	True	17:56651552	0	A	56651552	C	A	56651552	3	1	88	1	0	0	0	0	1	0	0	0	15860	913	32	3	1020	3	TEX14	17	56651552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52195	56651552	24543658	16861	24573											
TEX14	56155	broad.mit.edu	37	chr17	56679270	56679270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggagtccgtatctctgCactctggggctctcggttgg	15	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56679270C>T	ENST00000389934.3	-	13	1692	c.1575G>A	c.(1573-1575)gtG>gtA	p.V525V	TEX14_ENST00000349033.5_Silent_p.V525V|TEX14_ENST00000240361.8_Silent_p.V531V	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	531						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGTATCTCTGCACTCTGGGGC	0.458													False	0	False	17:56679270	0	T	56679270	C	T	56679270	2	4	88	1	0	0	0	0	0	0	0	1	15860	697	25	2		2	TEX14	17	56679270	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27718	56679270	24515940	16862	24574											
RAD51C	5889	broad.mit.edu	37	chr17	56772420	56772420	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtacagcactggaacttcttGagcaggagcatacccagggc	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56772420G>A	ENST00000337432.4	+	2	345	c.274G>A	c.(274-276)Gag>Aag	p.E92K	RAD51C_ENST00000421782.2_Missense_Mutation_p.E92K|RAD51C_ENST00000583539.1_Missense_Mutation_p.E92K|RAD51C_ENST00000487921.1_3'UTR	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	92					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAACTTCTTGAGCAGGAGCA	0.418								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				False	0	False	17:56772420	0	A	56772420	G	A	56772420	3	1	88	1	0	0	0	0	1	0	0	0	13067	1291	45	2	280	2	RAD51C	17	56772420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93150	56772420	24422790	16863	24575											
RAD51C	5889	broad.mit.edu	37	chr17	56811478	56811478	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatatattttttatctttcaGcctcagggatttagagatac	6	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56811478G>T	ENST00000337432.4	+	9	1097		c.e9-1			NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C						blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTATCTTTCAGCCTCAGGGAT	0.338								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				False	0	False	17:56811478	0	T	56811478	G	T	56811478	5	4	88	1	0	0	0	0	0	0	1	0	13067	985	34	3	1064	3	RAD51C	17	56811478	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39058	56811478	24383732	16864	24576											
PPM1E	22843	broad.mit.edu	37	chr17	56833506	56833506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgagtccgagcccgagcccGaacctgaactggtagaagct	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56833506G>A	ENST00000308249.2	+	1	277	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	50	11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			gcccgagcccgaacctgaacT	0.706													False	0	True	17:56833506	0	A	56833506	G	A	56833506	3	1	88	1	0	0	0	0	1	0	0	0	12412	1059	37	1	150	1	PPM1E	17	56833506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22028	56833506	24361704	16865	24577											
TRIM37	4591	broad.mit.edu	37	chr17	57089767	57089767	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattattttccaaatcagTcatctgcagtccttccagat	5	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57089767T>G	ENST00000376149.3	-	22	3060	c.2251A>C	c.(2251-2253)Act>Cct	p.T751P	TRIM37_ENST00000393066.3_Missense_Mutation_p.T873P|TRIM37_ENST00000262294.7_Missense_Mutation_p.T873P|TRIM37_ENST00000393065.2_Missense_Mutation_p.T839P			O94972	TRI37_HUMAN	tripartite motif containing 37	873						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCAAATCAGTCATCTGCAGT	0.373									Mulibrey Nanism				False	0	False	17:57089767	0	G	57089767	T	G	57089767	3	3	88	1	0	0	0	0	1	0	0	0	16594	1667	58	4	297	4	TRIM37	17	57089767	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	256261	57089767	24105443	16866	24578											
TRIM37	4591	broad.mit.edu	37	chr17	57165749	57165749	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaacgacaatttactagttCtcgtagctggagtggagcac	10	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57165749C>T	ENST00000262294.7	-	4	443	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	TRIM37_ENST00000393066.3_Missense_Mutation_p.E62K|TRIM37_ENST00000584889.1_Missense_Mutation_p.E62K|TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000393065.2_Missense_Mutation_p.E28K	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	62						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTACTAGTTCTCGTAGCTGG	0.363									Mulibrey Nanism				False	0	False	17:57165749	0	T	57165749	C	T	57165749	3	4	88	1	0	0	0	0	1	0	0	0	16594	922	32	2	2802	2	TRIM37	17	57165749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75982	57165749	24029461	16867	24579											
YPEL2	388403	broad.mit.edu	37	chr17	57466830	57466830	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactctgggctggaaatacGtaagtataaaggagtttggt	12	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57466830G>A	ENST00000312655.4	+	4	588		c.e4+1		YPEL2_ENST00000585166.1_Splice_Site|YPEL2_ENST00000581865.1_Splice_Site	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)							nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTGGAAATACGTAAGTATAAA	0.498													False	0	False	17:57466830	0	A	57466830	G	A	57466830	5	1	88	1	0	0	0	0	0	0	1	0	17574	1159	40	1	281	1	YPEL2	17	57466830	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	301081	57466830	23728380	16868	24580											
DHX40	79665	broad.mit.edu	37	chr17	57651186	57651186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtggtggtaatgtcagCaactatggaattagccaagc	11	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57651186C>T	ENST00000451169.2	+	5	694	c.335C>T	c.(334-336)gCa>gTa	p.A112V	DHX40_ENST00000425628.3_Missense_Mutation_p.A134V|DHX40_ENST00000251241.4_Missense_Mutation_p.A211V			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	211	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTAATGTCAGCAACTATGGAA	0.358													False	0	False	17:57651186	0	T	57651186	C	T	57651186	3	4	88	1	0	0	0	0	1	0	0	0	4542	710	25	2	650	2	DHX40	17	57651186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184356	57651186	23544024	16869	24581											
CLTC	1213	broad.mit.edu	37	chr17	57741290	57741290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctaagggctaacgtcccaAataaagtcattcagtgcttt	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57741290A>G	ENST00000269122.3	+	9	1730	c.1456A>G	c.(1456-1458)Aat>Gat	p.N486D	CLTC_ENST00000393043.1_Missense_Mutation_p.N486D|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	486	Flexible linker.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TAACGTCCCAAATAAAGTCAT	0.398			T	"ALK, TFE3"	"ALCL, renal "								False	0	True	17:57741290	0	G	57741290	A	G	57741290	3	3	88	1	0	0	0	0	1	0	0	0	3589	14	1	4	1490	4	CLTC	17	57741290	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	90104	57741290	23453920	16870	24582											
CLTC	1213	broad.mit.edu	37	chr17	57758684	57758684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacctccttatcctcactGcaattaaggctgaccgtaca	5	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57758684G>A	ENST00000269122.3	+	20	3368	c.3094G>A	c.(3094-3096)Gca>Aca	p.A1032T	CLTC_ENST00000393043.1_Missense_Mutation_p.A1032T|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1032	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TATCCTCACTGCAATTAAGGC	0.358			T	"ALK, TFE3"	"ALCL, renal "								False	0	False	17:57758684	0	A	57758684	G	A	57758684	3	1	88	1	0	0	0	0	1	0	0	0	3589	1319	46	2	3172	2	CLTC	17	57758684	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17394	57758684	23436526	16871	24583											
TUBD1	51174	broad.mit.edu	37	chr17	57963577	57963577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccatgtcaacaagaacagCccgggcaattggaactagag	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57963577C>T	ENST00000325752.3	-	3	464	c.187G>A	c.(187-189)Gct>Act	p.A63T	TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000394239.3_Missense_Mutation_p.A63T|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.A63T|TUBD1_ENST00000592426.1_Missense_Mutation_p.A63T|TUBD1_ENST00000376094.4_Missense_Mutation_p.A63T	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	63					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			ACAAGAACAGCCCGGGCAATT	0.413													False	0	True	17:57963577	0	T	57963577	C	T	57963577	3	4	88	1	0	0	0	0	1	0	0	0	16846	739	26	2	1202	2	TUBD1	17	57963577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204893	57963577	23231633	16872	24584											
RNFT1	51136	broad.mit.edu	37	chr17	58033915	58033915	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaaaaaattccaaaagCtgaaaagagaaataagagat	7	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58033915C>A	ENST00000305783.8	-	7	1061		c.e7-1		RNFT1_ENST00000442346.2_Splice_Site|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1							integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			ATTCCAAAAGCTGAAAAGAGA	0.303													False	0	False	17:58033915	0	A	58033915	C	A	58033915	5	1	88	1	0	0	0	0	0	0	1	0	13580	811	28	3	314	3	RNFT1	17	58033915	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70338	58033915	23161295	16873	24585											
USP32	84669	broad.mit.edu	37	chr17	58259106	58259106	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttcttgatgaagaaggaGaacctgtgaacaggacagaa	11	5	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58259106G>T	ENST00000300896.4	-	32	4321	c.4127C>A	c.(4126-4128)tCt>tAt	p.S1376Y	USP32_ENST00000592339.1_Missense_Mutation_p.S1046Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1376					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGAAGAAGGAGAACCTGTGAA	0.483													False	0	False	17:58259106	0	T	58259106	G	T	58259106	3	4	88	1	0	0	0	0	1	0	0	0	17147	942	33	3	699	3	USP32	17	58259106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225191	58259106	22936104	16874	24586											
USP32	84669	broad.mit.edu	37	chr17	58260584	58260584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttttgctcaggagcacGtcctcttccccagccgaact	10	15	2	0	rs144453913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58260584G>A	ENST00000300896.4	-	31	4259	c.4065C>T	c.(4063-4065)gaC>gaT	p.D1355D	USP32_ENST00000592339.1_Silent_p.D1025D	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1355					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCAGGAGCACGTCCTCTTCCC	0.577													False	0	False	17:58260584	0	A	58260584	G	A	58260584	2	1	88	1	0	0	0	0	0	0	0	1	17147	1136	40	1		1	USP32	17	58260584	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1478	58260584	22934626	16875	24587											
USP32	84669	broad.mit.edu	37	chr17	58262867	58262867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttctttgttgctaagCagtgggtcttacacttggaa	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58262867C>T	ENST00000300896.4	-	30	3982	c.3788G>A	c.(3787-3789)tGc>tAc	p.C1263Y	USP32_ENST00000592339.1_Missense_Mutation_p.C933Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1263					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGTTGCTAAGCAGTGGGTCTT	0.502													False	0	False	17:58262867	0	T	58262867	C	T	58262867	3	4	88	1	0	0	0	0	1	0	0	0	17147	710	25	2	1046	2	USP32	17	58262867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2283	58262867	22932343	16876	24588											
USP32	84669	broad.mit.edu	37	chr17	58286188	58286188	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttagatggttgtcccagGcctagcaataaaaaagatga	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58286188G>A	ENST00000300896.4	-	23	2794	c.2600C>T	c.(2599-2601)gCc>gTc	p.A867V	USP32_ENST00000592339.1_Splice_Site_p.A537V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	867					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GTTGTCCCAGGCCTAGCAATA	0.323													False	0	False	17:58286188	0	A	58286188	G	A	58286188	5	1	88	1	0	0	0	0	0	0	1	0	17147	1217	42	2	2262	2	USP32	17	58286188	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23321	58286188	22909022	16877	24589											
USP32	84669	broad.mit.edu	37	chr17	58422960	58422960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagtcgttttagctctAcatctgtaactgcaattcag	6	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58422960A>G	ENST00000300896.4	-	2	262	c.68T>C	c.(67-69)gTa>gCa	p.V23A	USP32_ENST00000393003.3_Missense_Mutation_p.V23A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	23					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTTTAGCTCTACATCTGTAAC	0.433													False	0	False	17:58422960	0	G	58422960	A	G	58422960	3	3	88	1	0	0	0	0	1	0	0	0	17147	391	14	4	4878	4	USP32	17	58422960	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	136772	58422960	22772250	16878	24590											
C17orf64	124773	broad.mit.edu	37	chr17	58506770	58506770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggtccttgctggccgaCcgggaagacagtctgcccaa	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58506770C>T	ENST00000269127.4	+	5	561	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	159										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			TGCTGGCCGACCGGGAAGACA	0.612													False	0	False	17:58506770	0	T	58506770	C	T	58506770	2	4	88	1	0	0	0	0	0	0	0	1	1884	506	18	2		2	C17orf64	17	58506770	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83810	58506770	22688440	16879	24591											
BCAS3	54828	broad.mit.edu	37	chr17	59112065	59112065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaatttcacccagcaaatCgatgggcggagaattttgtg	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59112065C>T	ENST00000589222.1	+	17	1744	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	BCAS3_ENST00000407086.3_Missense_Mutation_p.S559L|BCAS3_ENST00000390652.5_Missense_Mutation_p.S574L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S330L|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000585744.1_Missense_Mutation_p.S345L|BCAS3_ENST00000408905.3_Missense_Mutation_p.S559L|BCAS3_ENST00000588462.1_Missense_Mutation_p.S574L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	574						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCCAGCAAATCGATGGGCGGA	0.348													False	0	False	17:59112065	0	T	59112065	C	T	59112065	3	4	88	1	0	0	0	0	1	0	0	0	1356	893	31	1	1787	1	BCAS3	17	59112065	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605295	59112065	22083145	16880	24592											
TBX2	6909	broad.mit.edu	37	chr17	59482854	59482854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaggagcagggcctggCgccgctggtggtgcagacag	20	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59482854C>T	ENST00000240328.3	+	6	1624	c.1343C>T	c.(1342-1344)gCg>gTg	p.A448V	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	448					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CAGGGCCTGGCGCCGCTGGTG	0.711													False	0	False	17:59482854	0	T	59482854	C	T	59482854	3	4	88	1	0	0	0	0	1	0	0	0	15737	768	27	1	1365	1	TBX2	17	59482854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	370789	59482854	21712356	16881	24593											
TBX4	9496	broad.mit.edu	37	chr17	59560702	59560702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccgagagcgggggcccaGcgcctcattcccaagagagc	15	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59560702G>A	ENST00000393853.4	+	9	1629	c.1466G>A	c.(1465-1467)aGc>aAc	p.S489N	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.S488N			P57082	TBX4_HUMAN	T-box 4	488					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CGGGGGCCCAGCGCCTCATTC	0.597													False	0	False	17:59560702	0	A	59560702	G	A	59560702	3	1	88	1	0	0	0	0	1	0	0	0	15742	971	34	2	1493	2	TBX4	17	59560702	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77848	59560702	21634508	16882	24594											
NACA2	342538	broad.mit.edu	37	chr17	59668386	59668386	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcagctgctgccaccagCcaggctttttgtgtggtggt	12	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59668386C>T	ENST00000521764.1	-	1	177	c.156G>A	c.(154-156)tgG>tgA	p.W52*		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	52					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CTGCCACCAGCCAGGCTTTTT	0.512													False	0	True	17:59668386	0	T	59668386	C	T	59668386	4	4	88	1	0	0	0	0	0	1	0	0	10201	740	26	2	495	2	NACA2	17	59668386	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107684	59668386	21526824	16883	24595											
BRIP1	83990	broad.mit.edu	37	chr17	59760907	59760907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatttcaaaaaggtctttaGctaaaatgcaatctgaattg	6	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59760907G>A	ENST00000259008.2	-	20	3767	c.3500C>T	c.(3499-3501)gCt>gTt	p.A1167V		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1167					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AAGGTCTTTAGCTAAAATGCA	0.338			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					False	0	False	17:59760907	0	A	59760907	G	A	59760907	3	1	88	1	0	0	0	0	1	0	0	0	1521	971	34	2	253	2	BRIP1	17	59760907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92521	59760907	21434303	16884	24596											
INTS2	57508	broad.mit.edu	37	chr17	59947320	59947320	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttcagtaggtaggcaaatCtctaagagaatctggacagc	10	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59947320C>T	ENST00000444766.3	-	21	2907	c.2832G>A	c.(2830-2832)gaG>gaA	p.E944E	INTS2_ENST00000251334.6_Silent_p.E936E	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	944					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GTAGGCAAATCTCTAAGAGAA	0.343													False	0	False	17:59947320	0	T	59947320	C	T	59947320	2	4	88	1	0	0	0	0	0	0	0	1	7828	912	32	2		2	INTS2	17	59947320	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186413	59947320	21247890	16885	24597											
MED13	9969	broad.mit.edu	37	chr17	60028352	60028352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatagtagccgatcagtaCtctgacccttaaaaagacaa	7	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60028352C>T	ENST00000397786.2	-	28	6201	c.6125G>A	c.(6124-6126)aGt>aAt	p.S2042N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2042					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCGATCAGTACTCTGACCCTT	0.378													False	0	False	17:60028352	0	T	60028352	C	T	60028352	3	4	88	1	0	0	0	0	1	0	0	0	9497	565	20	2	411	2	MED13	17	60028352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81032	60028352	21166858	16886	24598											
MED13	9969	broad.mit.edu	37	chr17	60042453	60042453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagagctgatgtctgttgCcctcctagctgaccactctg	10	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60042453C>T	ENST00000397786.2	-	20	4834	c.4758G>A	c.(4756-4758)ggG>ggA	p.G1586G		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1586					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATGTCTGTTGCCCTCCTAGCT	0.453													False	0	True	17:60042453	0	T	60042453	C	T	60042453	2	4	88	1	0	0	0	0	0	0	0	1	9497	726	26	2		2	MED13	17	60042453	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14101	60042453	21152757	16887	24599											
MED13	9969	broad.mit.edu	37	chr17	60062374	60062374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttacttatgcaagataaCgggtccagatttcctgtctt	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60062374C>T	ENST00000397786.2	-	13	2539	c.2463G>A	c.(2461-2463)ccG>ccA	p.P821P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	821					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCAAGATAACGGGTCCAGAT	0.378													False	0	True	17:60062374	0	T	60062374	C	T	60062374	2	4	88	1	0	0	0	0	0	0	0	1	9497	523	19	1		1	MED13	17	60062374	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19921	60062374	21132836	16888	24600											
EFCAB3	146779	broad.mit.edu	37	chr17	60484019	60484019	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaaggatttatttaaatttCttgaagagctcaagagtaag	8	3	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60484019C>A	ENST00000450662.2	+	9	894	c.823C>A	c.(823-825)Ctt>Att	p.L275I	EFCAB3_ENST00000305286.3_Missense_Mutation_p.L223I	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	223							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			ATTTAAATTTCTTGAAGAGCT	0.393													False	0	True	17:60484019	0	A	60484019	C	A	60484019	3	1	88	1	0	0	0	0	1	0	0	0	4965	913	32	3	857	3	EFCAB3	17	60484019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	421645	60484019	20711191	16889	24601											
METTL2A	339175	broad.mit.edu	37	chr17	60503706	60503706	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactggaatgacttctacaaAatccacgaaaatgggttttt	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60503706A>C	ENST00000311506.5	+	3	285	c.249A>C	c.(247-249)aaA>aaC	p.K83N		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	83							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			ACTTCTACAAAATCCACGAAA	0.338													False	0	True	17:60503706	0	C	60503706	A	C	60503706	3	2	88	1	0	0	0	0	1	0	0	0	9566	11	1	4	259	4	METTL2A	17	60503706	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19687	60503706	20691504	16890	24602											
METTL2A	339175	broad.mit.edu	37	chr17	60504005	60504005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatcctcagccacctaccGaatactggaggtaacctttt	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60504005G>A	ENST00000311506.5	+	3	584	c.548G>A	c.(547-549)cGa>cAa	p.R183Q		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	183							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GCCACCTACCGAATACTGGAG	0.413													False	0	False	17:60504005	0	A	60504005	G	A	60504005	3	1	88	1	0	0	0	0	1	0	0	0	9566	1058	37	1	558	1	METTL2A	17	60504005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299	60504005	20691205	16891	24603											
METTL2A	339175	broad.mit.edu	37	chr17	60518112	60518112	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctttcagcaattgttccAgacaagtaagtttgggtccc	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60518112A>G	ENST00000311506.5	+	6	840	c.804A>G	c.(802-804)ccA>ccG	p.P268P		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	268							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			CAATTGTTCCAGACAAGTAAG	0.433													False	0	False	17:60518112	0	G	60518112	A	G	60518112	2	3	88	1	0	0	0	0	0	0	0	1	9566	175	7	4		4	METTL2A	17	60518112	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14107	60518112	20677098	16892	24604											
METTL2A	339175	broad.mit.edu	37	chr17	60522267	60522267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgcttctgcgagattaCggccgctatgacatggctca	11	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60522267C>T	ENST00000311506.5	+	7	915	c.879C>T	c.(877-879)taC>taT	p.Y293Y		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	293							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TGCGAGATTACGGCCGCTATG	0.488													False	0	False	17:60522267	0	T	60522267	C	T	60522267	2	4	88	1	0	0	0	0	0	0	0	1	9566	547	19	1		1	METTL2A	17	60522267	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4155	60522267	20672943	16893	24605											
TLK2	11011	broad.mit.edu	37	chr17	60642396	60642396	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggcgtgtagagataagaGcatgcaagaccgcttgagac	14	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60642396G>T	ENST00000582809.1	+	12	1122	c.419G>T	c.(418-420)aGc>aTc	p.S140I	TLK2_ENST00000343388.7_Missense_Mutation_p.S257I|TLK2_ENST00000326270.9_Missense_Mutation_p.S289I|TLK2_ENST00000542523.1_Missense_Mutation_p.S257I|TLK2_ENST00000346027.5_Missense_Mutation_p.S289I			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	289					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGAGATAAGAGCATGCAAGAC	0.413													False	0	False	17:60642396	0	T	60642396	G	T	60642396	3	4	88	1	0	0	0	0	1	0	0	0	16026	971	34	3	904	3	TLK2	17	60642396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120129	60642396	20552814	16894	24606											
TLK2	11011	broad.mit.edu	37	chr17	60685440	60685440	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcagcaagacatcctacaAgagaatacgattcttaaagc	6	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60685440A>G	ENST00000582809.1	+	22	2266	c.1563A>G	c.(1561-1563)caA>caG	p.Q521Q	TLK2_ENST00000343388.7_Silent_p.Q638Q|TLK2_ENST00000326270.9_Silent_p.Q692Q|TLK2_ENST00000542523.1_Silent_p.Q638Q|TLK2_ENST00000346027.5_Silent_p.Q670Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	692	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ACATCCTACAAGAGAATACGA	0.398													False	0	False	17:60685440	0	G	60685440	A	G	60685440	2	3	88	1	0	0	0	0	0	0	0	1	16026	69	3	4		4	TLK2	17	60685440	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43044	60685440	20509770	16895	24607											
TLK2	11011	broad.mit.edu	37	chr17	60685485	60685485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgcagttcccgccaaaGccagtagtaacacctgaagc	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60685485G>A	ENST00000582809.1	+	22	2311	c.1608G>A	c.(1606-1608)aaG>aaA	p.K536K	TLK2_ENST00000343388.7_Silent_p.K653K|TLK2_ENST00000326270.9_Silent_p.K707K|TLK2_ENST00000542523.1_Silent_p.K653K|TLK2_ENST00000346027.5_Silent_p.K685K			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	707	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TCCCGCCAAAGCCAGTAGTAA	0.418													False	0	True	17:60685485	0	A	60685485	G	A	60685485	2	1	88	1	0	0	0	0	0	0	0	1	16026	962	34	2		2	TLK2	17	60685485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	60685485	20509725	16896	24608											
MRC2	9902	broad.mit.edu	37	chr17	60744886	60744886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgccacggccgagcccaCccctccaggtgagccaggga	12	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60744886C>T	ENST00000303375.5	+	6	1511	c.1109C>T	c.(1108-1110)aCc>aTc	p.T370I		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	370					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCCGAGCCCACCCCTCCAGGT	0.692													False	0	True	17:60744886	0	T	60744886	C	T	60744886	3	4	88	1	0	0	0	0	1	0	0	0	9825	507	18	2	1131	2	MRC2	17	60744886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59401	60744886	20450324	16897	24609											
MRC2	9902	broad.mit.edu	37	chr17	60757183	60757183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatcagaacccgagatccacGagcagcactggttctggatc	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60757183G>A	ENST00000303375.5	+	14	2620	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	740	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGAGATCCACGAGCAGCACTG	0.632													False	0	False	17:60757183	0	A	60757183	G	A	60757183	3	1	88	1	0	0	0	0	1	0	0	0	9825	1059	37	1	2272	1	MRC2	17	60757183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12297	60757183	20438027	16898	24610											
MRC2	9902	broad.mit.edu	37	chr17	60767314	60767314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactacgtgggctggcaggaCggggagccgcagcagccggg	19	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60767314C>T	ENST00000303375.5	+	25	4035	c.3633C>T	c.(3631-3633)gaC>gaT	p.D1211D	MRC2_ENST00000446119.2_Silent_p.D77D	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1211	C-type lectin 7.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCTGGCAGGACGGGGAGCCGC	0.682													False	0	True	17:60767314	0	T	60767314	C	T	60767314	2	4	88	1	0	0	0	0	0	0	0	1	9825	535	19	1		1	MRC2	17	60767314	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10131	60767314	20427896	16899	24611											
MARCH10	162333	broad.mit.edu	37	chr17	60814645	60814645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctctcttgatttggcCtcttcagcttagtgttacac	6	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60814645C>A	ENST00000544856.2	-	7	959	c.581G>T	c.(580-582)aGg>aTg	p.R194M	RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.R195M|MARCH10_ENST00000583600.1_Missense_Mutation_p.R233M|MARCH10_ENST00000311269.5_Missense_Mutation_p.R195M|RP11-156L14.1_ENST00000582564.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	195							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTGATTTGGCCTCTTCAGCTT	0.468													False	0	False	17:60814645	0	A	60814645	C	A	60814645	3	1	88	1	0	0	0	0	1	0	0	0	9366	681	24	3	1866	3	MARCH10	17	60814645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47331	60814645	20380565	16900	24612											
TANC2	26115	broad.mit.edu	37	chr17	61417467	61417467	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctttcttttgcaggtggtTgcctatcactattgtcaagc	8	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61417467T>G	ENST00000424789.2	+	10	1363	c.1359T>G	c.(1357-1359)gtT>gtG	p.V453V	TANC2_ENST00000389520.4_Silent_p.V453V	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	453							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGCAGGTGGTTGCCTATCACT	0.423													False	0	False	17:61417467	0	G	61417467	T	G	61417467	2	3	88	1	0	0	0	0	0	0	0	1	15627	1799	63	4		4	TANC2	17	61417467	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	602822	61417467	19777743	16901	24613											
TANC2	26115	broad.mit.edu	37	chr17	61473130	61473130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catttggataagaacgggcaGtgtgctttggttcatgctgc	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61473130G>T	ENST00000424789.2	+	16	2860	c.2856G>T	c.(2854-2856)caG>caT	p.Q952H	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Q952H|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	952							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGAACGGGCAGTGTGCTTTGG	0.502													False	0	False	17:61473130	0	T	61473130	G	T	61473130	3	4	88	1	0	0	0	0	1	0	0	0	15627	1020	36	3	2918	3	TANC2	17	61473130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55663	61473130	19722080	16902	24614											
TANC2	26115	broad.mit.edu	37	chr17	61497715	61497715	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actcagcctacatctccagcTcacctcttggctctcatcag	5	17	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61497715T>A	ENST00000424789.2	+	25	4376	c.4372T>A	c.(4372-4374)Tca>Aca	p.S1458T	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S1468T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1458							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CATCTCCAGCTCACCTCTTGG	0.607													False	0	False	17:61497715	0	A	61497715	T	A	61497715	3	1	88	1	0	0	0	0	1	0	0	0	15627	1551	54	5	4470	5	TANC2	17	61497715	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24585	61497715	19697495	16903	24615											
TANC2	26115	broad.mit.edu	37	chr17	61499068	61499068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttataacaaaaccaacaatGcacagaatggccatttgctg	6	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61499068G>A	ENST00000424789.2	+	25	5729	c.5725G>A	c.(5725-5727)Gca>Aca	p.A1909T	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.A1919T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1909							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AACCAACAATGCACAGAATGG	0.542													False	0	False	17:61499068	0	A	61499068	G	A	61499068	3	1	88	1	0	0	0	0	1	0	0	0	15627	1319	46	2	5823	2	TANC2	17	61499068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1353	61499068	19696142	16904	24616											
KCNH6	81033	broad.mit.edu	37	chr17	61611263	61611263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtcctgtccctgggcgCggatgtgctgccggagtaca	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61611263C>T	ENST00000583023.1	+	5	703	c.692C>T	c.(691-693)gCg>gTg	p.A231V	KCNH6_ENST00000314672.5_Missense_Mutation_p.A231V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A231V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A231V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A231V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	231					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCCCTGGGCGCGGATGTGCTG	0.687													False	0	False	17:61611263	0	T	61611263	C	T	61611263	3	4	88	1	0	0	0	0	1	0	0	0	8086	768	27	1	710	1	KCNH6	17	61611263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112195	61611263	19583947	16905	24617											
KCNH6	81033	broad.mit.edu	37	chr17	61613124	61613124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactctgagtatggggcggCtgtgctcttcttgctcatgt	12	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61613124C>T	ENST00000583023.1	+	6	1207	c.1196C>T	c.(1195-1197)gCt>gTt	p.A399V	KCNH6_ENST00000314672.5_Missense_Mutation_p.A399V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A399V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A399V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A399V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	399					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TATGGGGCGGCTGTGCTCTTC	0.612													False	0	False	17:61613124	0	T	61613124	C	T	61613124	3	4	88	1	0	0	0	0	1	0	0	0	8086	797	28	2	1218	2	KCNH6	17	61613124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1861	61613124	19582086	16906	24618											
KCNH6	81033	broad.mit.edu	37	chr17	61613207	61613207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccatcggcaatgtggagCggccctacctagaacacaag	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61613207C>T	ENST00000583023.1	+	6	1290	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	KCNH6_ENST00000314672.5_Missense_Mutation_p.R427W|KCNH6_ENST00000580652.1_Missense_Mutation_p.R427W|KCNH6_ENST00000581784.1_Intron|KCNH6_ENST00000456941.2_Intron	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	427					regulation of transcription, DNA-dependent|signal transduction			p.R427W(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CAATGTGGAGCGGCCCTACCT	0.632													False	0	False	17:61613207	0	T	61613207	C	T	61613207	3	4	88	1	0	0	0	0	1	0	0	0	8086	759	27	1	1301	1	KCNH6	17	61613207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	61613207	19582003	16907	24619											
STRADA	92335	broad.mit.edu	37	chr17	61781025	61781025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaaagattccactgtgGtcctgagactggctgccctc	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61781025G>A	ENST00000336174.6	-	13	1342	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	STRADA_ENST00000447001.3_3'UTR|STRADA_ENST00000582137.1_3'UTR|STRADA_ENST00000392950.4_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000375840.4_Silent_p.D352D	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	410					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTCCACTGTGGTCCTGAGACT	0.562													False	0	False	17:61781025	0	A	61781025	G	A	61781025	2	1	88	1	0	0	0	0	0	0	0	1	15406	1252	44	2		2	STRADA	17	61781025	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167818	61781025	19414185	16908	24620											
STRADA	92335	broad.mit.edu	37	chr17	61781939	61781939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgttcagtttctctagcaGcatctggggaggacagaacc	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61781939G>A	ENST00000392950.4	-	9	1024	c.751C>T	c.(751-753)Ctg>Ttg	p.L251L	STRADA_ENST00000447001.3_Silent_p.L244L|STRADA_ENST00000582137.1_Silent_p.L259L|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000336174.6_Silent_p.L288L|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000375840.4_Silent_p.L230L|STRADA_ENST00000579340.1_Silent_p.C172C	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	288	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTCTCTAGCAGCATCTGGGGA	0.612													False	0	False	17:61781939	0	A	61781939	G	A	61781939	2	1	88	1	0	0	0	0	0	0	0	1	15406	962	34	2		2	STRADA	17	61781939	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	914	61781939	19413271	16909	24621											
CCDC47	57003	broad.mit.edu	37	chr17	61838630	61838630	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcacagcacactcgaccaGaacaccacaggttatagatg	7	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61838630G>A	ENST00000225726.5	-	5	1011	c.629C>T	c.(628-630)tCt>tTt	p.S210F	CCDC47_ENST00000582252.1_Missense_Mutation_p.S210F|CCDC47_ENST00000403162.3_Missense_Mutation_p.S210F	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	210						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CACTCGACCAGAACACCACAG	0.438													False	0	False	17:61838630	0	A	61838630	G	A	61838630	3	1	88	1	0	0	0	0	1	0	0	0	2839	942	33	2	858	2	CCDC47	17	61838630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56691	61838630	19356580	16910	24622											
DDX42	11325	broad.mit.edu	37	chr17	61890627	61890627	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattaagactgtcattaActatgatgtggcacgagaca	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61890627A>C	ENST00000578681.1	+	16	2316	c.1715A>C	c.(1714-1716)aAc>aCc	p.N572T	DDX42_ENST00000583590.1_Missense_Mutation_p.N572T|DDX42_ENST00000359353.5_Missense_Mutation_p.N453T|DDX42_ENST00000457800.2_Missense_Mutation_p.N572T|DDX42_ENST00000389924.2_Missense_Mutation_p.N572T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	572	Helicase C-terminal.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ACTGTCATTAACTATGATGTG	0.443													False	0	False	17:61890627	0	C	61890627	A	C	61890627	3	2	88	1	0	0	0	0	1	0	0	0	4387	43	2	4	1769	4	DDX42	17	61890627	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51997	61890627	19304583	16911	24623											
FTSJ3	117246	broad.mit.edu	37	chr17	61902919	61902919	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtaagcatcatggaccCagctagccccaacgttgggg	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61902919C>A	ENST00000427159.2	-	6	1022	c.377G>T	c.(376-378)tGg>tTg	p.W126L		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	126					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ATCATGGACCCAGCTAGCCCC	0.557													False	0	True	17:61902919	0	A	61902919	C	A	61902919	3	1	88	1	0	0	0	0	1	0	0	0	6131	595	21	3	2230	3	FTSJ3	17	61902919	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12292	61902919	19292291	16912	24624											
FTSJ3	117246	broad.mit.edu	37	chr17	61903629	61903629	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttactcacccacaataaggCtggatacaggcataaacttg	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61903629C>A	ENST00000427159.2	-	4	854	c.209G>T	c.(208-210)aGc>aTc	p.S70I		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	70					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CACAATAAGGCTGGATACAGG	0.453													False	0	False	17:61903629	0	A	61903629	C	A	61903629	3	1	88	1	0	0	0	0	1	0	0	0	6131	797	28	3	2406	3	FTSJ3	17	61903629	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	710	61903629	19291581	16913	24625											
PSMC5	5705	broad.mit.edu	37	chr17	61908896	61908896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acattttgaagattcattctCggaagatgaacctgacccgg	9	9	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61908896C>T	ENST00000310144.6	+	10	1308	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	PSMC5_ENST00000375812.4_Missense_Mutation_p.R326W|PSMC5_ENST00000580864.1_Missense_Mutation_p.R326W|PSMC5_ENST00000581882.1_Missense_Mutation_p.R326W	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	334					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GATTCATTCTCGGAAGATGAA	0.547													False	0	False	17:61908896	0	T	61908896	C	T	61908896	3	4	88	1	0	0	0	0	1	0	0	0	12766	875	31	1	1038	1	PSMC5	17	61908896	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5267	61908896	19286314	16914	24626											
SMARCD2	6603	broad.mit.edu	37	chr17	61910711	61910711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggatgaagtcctgggggtCggtgctaaaactgagcatga	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61910711C>T	ENST00000448276.2	-	11	1652	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	SMARCD2_ENST00000323347.10_Missense_Mutation_p.D415N|SMARCD2_ENST00000225742.9_Missense_Mutation_p.D388N	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	463					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TCCTGGGGGTCGGTGCTAAAA	0.547													False	0	False	17:61910711	0	T	61910711	C	T	61910711	3	4	88	1	0	0	0	0	1	0	0	0	14858	884	31	1	220	1	SMARCD2	17	61910711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1815	61910711	19284499	16915	24627											
SMARCD2	6603	broad.mit.edu	37	chr17	61910761	61910761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtcttcagctggttgatgGactcaatggtctcatggatc	13	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61910761G>A	ENST00000448276.2	-	11	1602	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	SMARCD2_ENST00000323347.10_Missense_Mutation_p.S398F|SMARCD2_ENST00000225742.9_Missense_Mutation_p.S371F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	446					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CTGGTTGATGGACTCAATGGT	0.552													False	0	False	17:61910761	0	A	61910761	G	A	61910761	3	1	88	1	0	0	0	0	1	0	0	0	14858	1174	41	2	270	2	SMARCD2	17	61910761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	61910761	19284449	16916	24628											
CSHL1	1444	broad.mit.edu	37	chr17	61988202	61988202	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttaaaaagcctggataaGggaacggtttggacggcacc	12	8	1	0	rs112072490	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61988202G>T	ENST00000392824.4	-	2	154	c.93C>A	c.(91-93)ccC>ccA	p.P31P	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000309894.5_Silent_p.P31P			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	31						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GCCTGGATAAGGGAACGGTTT	0.587													False	0	True	17:61988202	0	T	61988202	G	T	61988202	2	4	88	1	0	0	0	0	0	0	0	1	3967	987	35	3		3	CSHL1	17	61988202	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77441	61988202	19207008	16917	24629											
CD79B	0	broad.mit.edu	37	chr17	62007651	62007651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagccagctcacattgccGgaggcgctgttcatgtagca	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62007651G>A	ENST00000006750.3	-	3	305	c.213C>T	c.(211-213)tcC>tcT	p.S71S	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Silent_p.S72S	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	71	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	p.S71S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567			"Mis, O"		DLBCL								False	0	False	17:62007651	0	A	62007651	G	A	62007651	2	1	88	1	0	0	0	0	0	0	0	1	3060	1103	39	1		1	CD79B	17	62007651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19449	62007651	19187559	16918	24630											
SCN4A	6329	broad.mit.edu	37	chr17	62021184	62021184	+	Silent	SNP	C	C	T													tagtatttcttctgttcctcCgtcataaagatgtctttccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62021184C>T	ENST00000435607.1	-	22	4015	c.3939G>A	c.(3937-3939)acG>acA	p.T1313T	SCN4A_ENST00000578147.1_Silent_p.T1313T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1313			T -> M (in PMC).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCTGTTCCTCCGTCATAAAGA	0.552													False	0	False	17:62021184	0	T	62021184	C	T	62021184	2	4	88	1	0	0	0	0	0	0	0	1	14001	639	23	1		1	SCN4A	17	62021184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13533	62021184	19174026	16919	24631	259	2									
SCN4A	6329	broad.mit.edu	37	chr17	62021185	62021185	+	Missense_Mutation	SNP	G	G	A													agtatttcttctgttcctccGtcataaagatgtctttcccc					rs121908547		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62021185G>A	ENST00000435607.1	-	22	4014	c.3938C>T	c.(3937-3939)aCg>aTg	p.T1313M	SCN4A_ENST00000578147.1_Missense_Mutation_p.T1313M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1313			T -> M (in PMC).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T1313M(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CTGTTCCTCCGTCATAAAGAT	0.552													False	0	False	17:62021185	0	A	62021185	G	A	62021185	3	1	88	1	0	0	0	0	1	0	0	0	14001	1145	40	1	1584	1	SCN4A	17	62021185	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	62021185	19174025	16920	24632	259	2									
SCN4A	6329	broad.mit.edu	37	chr17	62026114	62026114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtagaggcagggccagcGctgcacgcaggctgatgggg	18	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62026114G>A	ENST00000435607.1	-	16	3077	c.3001C>T	c.(3001-3003)Cgc>Tgc	p.R1001C	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1001C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1001					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CAGGGCCAGCGCTGCACGCAG	0.642													False	0	False	17:62026114	0	A	62026114	G	A	62026114	3	1	88	1	0	0	0	0	1	0	0	0	14001	1087	38	1	2545	1	SCN4A	17	62026114	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4929	62026114	19169096	16921	24633											
SCN4A	6329	broad.mit.edu	37	chr17	62045589	62045589	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagcgcacacacttctgcCtcaggtttcccatgaagagc	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62045589C>A	ENST00000435607.1	-	6	906	c.830G>T	c.(829-831)aGg>aTg	p.R277M	SCN4A_ENST00000578147.1_Missense_Mutation_p.R277M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	277					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ACACTTCTGCCTCAGGTTTCC	0.547													False	0	False	17:62045589	0	A	62045589	C	A	62045589	3	1	88	1	0	0	0	0	1	0	0	0	14001	681	24	3	4756	3	SCN4A	17	62045589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19475	62045589	19149621	16922	24634											
ICAM2	3384	broad.mit.edu	37	chr17	62080179	62080179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccatccgctgctggcgCaagtgctggccgaagatgaa	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62080179C>T	ENST00000412356.1	-	6	1110	c.756G>A	c.(754-756)ttG>ttA	p.L252L	ICAM2_ENST00000579687.1_Silent_p.L252L|ICAM2_ENST00000579788.1_Silent_p.L252L|ICAM2_ENST00000449662.2_Silent_p.L252L|ICAM2_ENST00000418105.1_Silent_p.L252L|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578892.1_Silent_p.L228L|ICAM2_ENST00000578379.1_Silent_p.L151L|C17orf72_ENST00000412177.1_3'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	252					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GCTGCTGGCGCAAGTGCTGGC	0.622													False	0	False	17:62080179	0	T	62080179	C	T	62080179	2	4	88	1	0	0	0	0	0	0	0	1	7530	709	25	2		2	ICAM2	17	62080179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34590	62080179	19115031	16923	24635											
ICAM2	3384	broad.mit.edu	37	chr17	62082714	62082714	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttggcctcacgtgtacctcGaataccttctcatccgatcc	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62082714G>A	ENST00000412356.1	-	4	435	c.81C>T	c.(79-81)ttC>ttT	p.F27F	ICAM2_ENST00000579687.1_Silent_p.F27F|ICAM2_ENST00000579788.1_Silent_p.F27F|ICAM2_ENST00000449662.2_Silent_p.F27F|ICAM2_ENST00000418105.1_Silent_p.F27F|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578892.1_Silent_p.F27F|ICAM2_ENST00000578379.1_5'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	27					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						CGTGTACCTCGAATACCTTCT	0.587													False	0	False	17:62082714	0	A	62082714	G	A	62082714	2	1	88	1	0	0	0	0	0	0	0	1	7530	1049	37	1		1	ICAM2	17	62082714	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2535	62082714	19112496	16924	24636											
ERN1	2081	broad.mit.edu	37	chr17	62125340	62125340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcaattcacgtgcaatgaCgtcttctataaaggaggaaa	8	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62125340C>T	ENST00000433197.3	-	19	2502	c.2407G>A	c.(2407-2409)Gtc>Atc	p.V803I		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1		Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CGTGCAATGACGTCTTCTATA	0.438													False	0	False	17:62125340	0	T	62125340	C	T	62125340	3	4	88	1	0	0	0	0	1	0	0	0	5269	536	19	1	542	1	ERN1	17	62125340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42626	62125340	19069870	16925	24637											
ERN1	2081	broad.mit.edu	37	chr17	62130142	62130142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatagcctattactcacagGgttctccttacagtcttcgc	6	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62130142G>A	ENST00000433197.3	-	17	2346	c.2251C>T	c.(2251-2253)Cct>Tct	p.P751S		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1		Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TTACTCACAGGGTTCTCCTTA	0.542													False	0	True	17:62130142	0	A	62130142	G	A	62130142	3	1	88	1	0	0	0	0	1	0	0	0	5269	1232	43	2	706	2	ERN1	17	62130142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4802	62130142	19065068	16926	24638											
ERN1	2081	broad.mit.edu	37	chr17	62135346	62135346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtctggtcaaccaggTtgataaccttgcatgggaga	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62135346T>C	ENST00000433197.3	-	12	1309	c.1214A>G	c.(1213-1215)aAc>aGc	p.N405S		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1						activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GTCAACCAGGTTGATAACCTT	0.552													False	0	False	17:62135346	0	C	62135346	T	C	62135346	3	2	88	1	0	0	0	0	1	0	0	0	5269	1725	60	4	1763	4	ERN1	17	62135346	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5204	62135346	19059864	16927	24639											
TEX2	55852	broad.mit.edu	37	chr17	62265718	62265718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcctttgctgctgctgCggctgtgggtcaggtgcccg	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62265718C>T	ENST00000258991.3	-	5	2339	c.2255G>A	c.(2254-2256)cGc>cAc	p.R752H	TEX2_ENST00000583097.1_Missense_Mutation_p.R745H|TEX2_ENST00000584379.1_Missense_Mutation_p.R745H			Q8IWB9	TEX2_HUMAN	testis expressed 2	745					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCTGCTGCTGCGGCTGTGGGT	0.577													False	0	True	17:62265718	0	T	62265718	C	T	62265718	3	4	88	1	0	0	0	0	1	0	0	0	15863	768	27	1	1181	1	TEX2	17	62265718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130372	62265718	18929492	16928	24640											
TEX2	55852	broad.mit.edu	37	chr17	62290017	62290017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacttgtgatatttatgagCacttggtggtgtaaaaaacc	9	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62290017C>T	ENST00000258991.3	-	2	1645	c.1561G>A	c.(1561-1563)Gct>Act	p.A521T	TEX2_ENST00000583097.1_Missense_Mutation_p.A521T|TEX2_ENST00000584379.1_Missense_Mutation_p.A521T			Q8IWB9	TEX2_HUMAN	testis expressed 2	521					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TATTTATGAGCACTTGGTGGT	0.458													False	0	False	17:62290017	0	T	62290017	C	T	62290017	3	4	88	1	0	0	0	0	1	0	0	0	15863	710	25	2	1887	2	TEX2	17	62290017	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24299	62290017	18905193	16929	24641											
TEX2	55852	broad.mit.edu	37	chr17	62290429	62290429	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agactgctcccctgggaactTttcagttctatctctcttgt	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62290429T>G	ENST00000258991.3	-	2	1233	c.1149A>C	c.(1147-1149)aaA>aaC	p.K383N	TEX2_ENST00000583097.1_Missense_Mutation_p.K383N|TEX2_ENST00000584379.1_Missense_Mutation_p.K383N			Q8IWB9	TEX2_HUMAN	testis expressed 2	383					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCTGGGAACTTTTCAGTTCTA	0.478													False	0	True	17:62290429	0	G	62290429	T	G	62290429	3	3	88	1	0	0	0	0	1	0	0	0	15863	1838	64	4	2299	4	TEX2	17	62290429	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	412	62290429	18904781	16930	24642											
TEX2	55852	broad.mit.edu	37	chr17	62291232	62291232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaacaggggactccaacaGctttacagtgttcttggaga	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62291232G>A	ENST00000258991.3	-	2	430	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	TEX2_ENST00000583097.1_Silent_p.L116L|TEX2_ENST00000584379.1_Silent_p.L116L			Q8IWB9	TEX2_HUMAN	testis expressed 2	116					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GACTCCAACAGCTTTACAGTG	0.607													False	0	False	17:62291232	0	A	62291232	G	A	62291232	2	1	88	1	0	0	0	0	0	0	0	1	15863	962	34	2		2	TEX2	17	62291232	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	803	62291232	18903978	16931	24643											
DDX5	1655	broad.mit.edu	37	chr17	62496398	62496398	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccttttgcccgcagagtaTctgtcccgacggtcatcctt	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62496398T>G	ENST00000225792.5	-	13	1889	c.1488A>C	c.(1486-1488)agA>agC	p.R496S	DDX5_ENST00000578804.1_Missense_Mutation_p.R496S|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Missense_Mutation_p.R417S	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	496					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCGCAGAGTATCTGTCCCGAC	0.423			T	ETV4	prostate								False	0	False	17:62496398	0	G	62496398	T	G	62496398	3	3	88	1	0	0	0	0	1	0	0	0	4392	1432	50	4	360	4	DDX5	17	62496398	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	205166	62496398	18698812	16932	24644											
DDX5	1655	broad.mit.edu	37	chr17	62499117	62499117	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcactcagttcaagtgCaccaatgtttatatgaatat	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62499117C>A	ENST00000225792.5	-	8	1311	c.910G>T	c.(910-912)Gca>Tca	p.A304S	DDX5_ENST00000578804.1_Missense_Mutation_p.A304S|DDX5_ENST00000450599.2_Missense_Mutation_p.A225S	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	304					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGTTCAAGTGCACCAATGTTT	0.373			T	ETV4	prostate								False	0	False	17:62499117	0	A	62499117	C	A	62499117	3	1	88	1	0	0	0	0	1	0	0	0	4392	710	25	3	958	3	DDX5	17	62499117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2719	62499117	18696093	16933	24645											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856945	62856945	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtcattggtgtctagctGctcactcccaaagcctgaca	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62856945G>A	ENST00000584306.1	-	11	3849	c.3319C>T	c.(3319-3321)Cag>Tag	p.Q1107*	LRRC37A3_ENST00000319651.5_Nonsense_Mutation_p.Q1107*|LRRC37A3_ENST00000400877.3_Nonsense_Mutation_p.Q145*|LRRC37A3_ENST00000339474.5_Nonsense_Mutation_p.Q225*|LRRC37A3_ENST00000334962.5_Nonsense_Mutation_p.Q84*	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1107						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTGTCTAGCTGCTCACTCCCA	0.463													False	0	False	17:62856945	0	A	62856945	G	A	62856945	4	1	88	1	0	0	0	0	0	1	0	0	9055	1328	46	2	1601	2	LRRC37A3	17	62856945	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	357828	62856945	18338265	16934	24646											
GNA13	10672	broad.mit.edu	37	chr17	63010504	63010504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggcttctgttgctggtcCcggcgtttgttccggaaaca	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63010504C>T	ENST00000439174.2	-	4	1250	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	GNA13_ENST00000541118.1_Silent_p.R240R	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	335					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTTGCTGGTCCCGGCGTTTGT	0.473													False	0	True	17:63010504	0	T	63010504	C	T	63010504	2	4	88	1	0	0	0	0	0	0	0	1	6546	610	22	2		2	GNA13	17	63010504	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153559	63010504	18184706	16935	24647											
RGS9	8787	broad.mit.edu	37	chr17	63204111	63204111	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagctattgaacctcaggaAaccaccaagaaaaggcaagt	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63204111A>C	ENST00000449996.3	+	16	1338	c.1266A>C	c.(1264-1266)gaA>gaC	p.E422D	RGS9_ENST00000262406.9_Missense_Mutation_p.E425D|RGS9_ENST00000443584.3_Missense_Mutation_p.E422D	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	425				E -> D (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AACCTCAGGAAACCACCAAGA	0.413													False	0	True	17:63204111	0	C	63204111	A	C	63204111	3	2	88	1	0	0	0	0	1	0	0	0	13392	11	1	4	1337	4	RGS9	17	63204111	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	193607	63204111	17991099	16936	24648											
AXIN2	8313	broad.mit.edu	37	chr17	63533929	63533929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgcgaattgagtgtgaGctcggagccctctctctctt	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63533929G>T	ENST00000307078.5	-	6	1538	c.1225C>A	c.(1225-1227)Ctc>Atc	p.L409I	AXIN2_ENST00000375702.5_Missense_Mutation_p.L409I	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	409	Interaction with GSK3B (By similarity).				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTGAGTGTGAGCTCGGAGCCC	0.617									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				False	0	False	17:63533929	0	T	63533929	G	T	63533929	3	4	88	1	0	0	0	0	1	0	0	0	1241	971	34	3	1330	3	AXIN2	17	63533929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329818	63533929	17661281	16937	24649											
APOH	350	broad.mit.edu	37	chr17	64216739	64216739	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgtatcatttccaaacatCgcatgttgtggcaaacattc	6	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64216739C>T	ENST00000205948.6	-	5	574	c.537G>A	c.(535-537)gcG>gcA	p.A179A		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	179	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	p.A179A(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTCCAAACATCGCATGTTGTG	0.418													False	0	False	17:64216739	0	T	64216739	C	T	64216739	2	4	88	1	0	0	0	0	0	0	0	1	806	871	31	1		1	APOH	17	64216739	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	682810	64216739	16978471	16938	24650											
APOH	350	broad.mit.edu	37	chr17	64222213	64222213	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atagcgtacggctccattttCtaagattccagcaaaaggac	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64222213C>T	ENST00000205948.6	-	3	308	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	91	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GCTCCATTTTCTAAGATTCCA	0.343													False	0	True	17:64222213	0	T	64222213	C	T	64222213	3	4	88	1	0	0	0	0	1	0	0	0	806	922	32	2	790	2	APOH	17	64222213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5474	64222213	16972997	16939	24651											
CACNG5	27091	broad.mit.edu	37	chr17	64880810	64880810	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccctaagtatggataggcTgggcctgggcactgccccac	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64880810T>C	ENST00000169565.3	+	4	602	c.602T>C	c.(601-603)cTg>cCg	p.L201P	CACNG5_ENST00000307139.3_Intron|CACNG5_ENST00000533854.1_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ATGGATAGGCTGGGCCTGGGC	0.572													False	0	True	17:64880810	0	C	64880810	T	C	64880810	3	2	88	1	0	0	0	0	1	0	0	0	2580	1580	55	4	616	4	CACNG5	17	64880810	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	658597	64880810	16314400	16940	24652											
CACNG5	27091	broad.mit.edu	37	chr17	64881064	64881064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagatgaggcaggccccaGcagcgagcccatcctctgct	14	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64881064G>A	ENST00000169565.3	+	4	856	c.856G>A	c.(856-858)Gca>Aca	p.A286T	CACNG5_ENST00000307139.3_Intron|CACNG5_ENST00000533854.1_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GCAGGCCCCAGCAGCGAGCCC	0.622													False	0	False	17:64881064	0	A	64881064	G	A	64881064	3	1	88	1	0	0	0	0	1	0	0	0	2580	971	34	2	870	2	CACNG5	17	64881064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	254	64881064	16314146	16941	24653											
CACNG5	27091	broad.mit.edu	37	chr17	64881352	64881352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagatgtcctcttcacccTgctgagcctcggccgccccc	8	19	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64881352T>C	ENST00000533854.1	+	6	1060	c.823T>C	c.(823-825)Tgc>Cgc	p.C275R	CACNG5_ENST00000307139.3_Missense_Mutation_p.C275R			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	275				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CTCTTCACCCTGCTGAGCCTC	0.632													False	0	True	17:64881352	0	C	64881352	T	C	64881352	3	2	88	1	0	0	0	0	1	0	0	0	2580	1580	55	4	1158	4	CACNG5	17	64881352	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	288	64881352	16313858	16942	24654											
CACNG4	27092	broad.mit.edu	37	chr17	65026808	65026808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgggaattccttaaggcGtcttcctcttctccttatgc	7	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65026808G>A	ENST00000262138.3	+	4	674	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	224					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.A224A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCCTTAAGGCGTCTTCCTCTT	0.542													False	0	False	17:65026808	0	A	65026808	G	A	65026808	2	1	88	1	0	0	0	0	0	0	0	1	2579	1132	40	1		1	CACNG4	17	65026808	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145456	65026808	16168402	16943	24655											
CACNG1	786	broad.mit.edu	37	chr17	65051341	65051341	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcgacccgcgtccatgTtctatgcctttgcaggtaga	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65051341T>G	ENST00000226021.3	+	3	498	c.427T>G	c.(427-429)Ttc>Gtc	p.F143V		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	143					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	CGCGTCCATGTTCTATGCCTT	0.637													False	0	False	17:65051341	0	G	65051341	T	G	65051341	3	3	88	1	0	0	0	0	1	0	0	0	2576	1725	60	4	437	4	CACNG1	17	65051341	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24533	65051341	16143869	16944	24656											
HELZ	9931	broad.mit.edu	37	chr17	65083046	65083046	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggactccggggatgaaAagttgaaagaagattggtta	13	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65083046A>C	ENST00000358691.5	-	32	5559	c.5393T>G	c.(5392-5394)tTt>tGt	p.F1798C	HELZ_ENST00000580168.1_Missense_Mutation_p.F1799C	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CGGGGATGAAAAGTTGAAAGA	0.473													False	0	True	17:65083046	0	C	65083046	A	C	65083046	3	2	88	1	0	0	0	0	1	0	0	0	7096	14	1	4	443	4	HELZ	17	65083046	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31705	65083046	16112164	16945	24657											
HELZ	9931	broad.mit.edu	37	chr17	65144688	65144688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcagttcacacctacttgAtgatagcttcatgggagcgg	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65144688A>G	ENST00000358691.5	-	20	2784	c.2618T>C	c.(2617-2619)aTc>aCc	p.I873T	HELZ_ENST00000580168.1_Missense_Mutation_p.I874T	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CACCTACTTGATGATAGCTTC	0.483													False	0	False	17:65144688	0	G	65144688	A	G	65144688	3	3	88	1	0	0	0	0	1	0	0	0	7096	333	12	4	3266	4	HELZ	17	65144688	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61642	65144688	16050522	16946	24658											
HELZ	9931	broad.mit.edu	37	chr17	65162603	65162603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttttgtacctgttaggaCtccatggtatggtgggagtc	12	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65162603C>T	ENST00000358691.5	-	15	2052	c.1886G>A	c.(1885-1887)aGt>aAt	p.S629N	HELZ_ENST00000580168.1_Missense_Mutation_p.S629N	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCTGTTAGGACTCCATGGTAT	0.358													False	0	False	17:65162603	0	T	65162603	C	T	65162603	3	4	88	1	0	0	0	0	1	0	0	0	7096	565	20	2	4018	2	HELZ	17	65162603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17915	65162603	16032607	16947	24659											
PSMD12	5718	broad.mit.edu	37	chr17	65337095	65337095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctctggaagttgataAttcctgctaatctgtctact	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65337095A>G	ENST00000356126.3	-	11	1342	c.1235T>C	c.(1234-1236)aTt>aCt	p.I412T	PSMD12_ENST00000357146.4_Missense_Mutation_p.I392T	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	412	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GAAGTTGATAATTCCTGCTAA	0.368													False	0	False	17:65337095	0	G	65337095	A	G	65337095	3	3	88	1	0	0	0	0	1	0	0	0	12771	101	4	4	139	4	PSMD12	17	65337095	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	174492	65337095	15858115	16948	24660											
PSMD12	5718	broad.mit.edu	37	chr17	65353435	65353435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttgttttaactgactcCgccttttggacaaaagcata	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65353435C>T	ENST00000356126.3	-	3	388	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	PSMD12_ENST00000357146.4_Missense_Mutation_p.R74Q|PSMD12_ENST00000581618.1_5'UTR	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	94					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TAACTGACTCCGCCTTTTGGA	0.358													False	0	False	17:65353435	0	T	65353435	C	T	65353435	3	4	88	1	0	0	0	0	1	0	0	0	12771	652	23	1	1125	1	PSMD12	17	65353435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16340	65353435	15841775	16949	24661											
PITPNC1	26207	broad.mit.edu	37	chr17	65671660	65671660	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggttgatgagtggtatggTaagtcaatttctccaaaata	11	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65671660T>C	ENST00000580974.1	+	8	1378		c.e8+2		PITPNC1_ENST00000581322.1_Splice_Site|PITPNC1_ENST00000335257.6_Splice_Site|PITPNC1_ENST00000299954.9_Splice_Site	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1						signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AGTGGTATGGTAAGTCAATTT	0.408													False	0	True	17:65671660	0	C	65671660	T	C	65671660	5	2	88	1	0	0	0	0	0	0	1	0	12018	1652	57	4	714	4	PITPNC1	17	65671660	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	318225	65671660	15523550	16950	24662											
NOL11	25926	broad.mit.edu	37	chr17	65714073	65714073	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgctcaaaatggcagcgCtggaggaagaattcacgttg	13	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65714073C>A	ENST00000253247.4	+	1	125	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	4						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATGGCAGCGCTGGAGGAAGA	0.592											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:65714073	0	A	65714073	C	A	65714073	3	1	88	1	0	0	0	0	1	0	0	0	10589	796	28	3	12	3	NOL11	17	65714073	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42413	65714073	15481137	16951	24663											
BPTF	2186	broad.mit.edu	37	chr17	65862587	65862587	+	Missense_Mutation	SNP	G	G	T													catttttaaacagagaagaaGatacagaaaatgaaaatgaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65862587G>T	ENST00000321892.4	+	3	1505	c.1444G>T	c.(1444-1446)Gat>Tat	p.D482Y	BPTF_ENST00000424123.3_Missense_Mutation_p.D343Y|BPTF_ENST00000306378.6_Missense_Mutation_p.D482Y|BPTF_ENST00000335221.5_Missense_Mutation_p.D482Y			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	482					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGAGAAGAAGATACAGAAAA	0.328													False	0	True	17:65862587	0	T	65862587	G	T	65862587	3	4	88	1	0	0	0	0	1	0	0	0	1502	942	33	3	1454	3	BPTF	17	65862587	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148514	65862587	15332623	16952	24664	260	2									
BPTF	2186	broad.mit.edu	37	chr17	65862593	65862593	+	Missense_Mutation	SNP	G	G	A													taaacagagaagaagatacaGaaaatgaaaatgaaaagaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65862593G>A	ENST00000321892.4	+	3	1511	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	BPTF_ENST00000424123.3_Missense_Mutation_p.E345K|BPTF_ENST00000306378.6_Missense_Mutation_p.E484K|BPTF_ENST00000335221.5_Missense_Mutation_p.E484K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	484					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAAGATACAGAAAATGAAAA	0.333													False	0	True	17:65862593	0	A	65862593	G	A	65862593	3	1	88	1	0	0	0	0	1	0	0	0	1502	943	33	2	1460	2	BPTF	17	65862593	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	65862593	15332617	16953	24665	260	2									
BPTF	2186	broad.mit.edu	37	chr17	65905755	65905755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaagaaaatgttcacgaaGtccaaaaaaaataaaaatag	5	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65905755G>A	ENST00000321892.4	+	12	3309	c.3248G>A	c.(3247-3249)aGt>aAt	p.S1083N	BPTF_ENST00000424123.3_Missense_Mutation_p.S944N|BPTF_ENST00000306378.6_Missense_Mutation_p.S957N|BPTF_ENST00000335221.5_Missense_Mutation_p.S1083N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1083					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTTCACGAAGTCCAAAAAAA	0.318													False	0	False	17:65905755	0	A	65905755	G	A	65905755	3	1	88	1	0	0	0	0	1	0	0	0	1502	1029	36	2	3294	2	BPTF	17	65905755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43162	65905755	15289455	16954	24666											
BPTF	2186	broad.mit.edu	37	chr17	65907902	65907902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccgtgtctattcaggataGcagtgaagaagatatgattg	11	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65907902G>A	ENST00000321892.4	+	13	4341	c.4280G>A	c.(4279-4281)aGc>aAc	p.S1427N	BPTF_ENST00000424123.3_Missense_Mutation_p.S1288N|BPTF_ENST00000306378.6_Missense_Mutation_p.S1301N|BPTF_ENST00000335221.5_Missense_Mutation_p.S1427N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1427					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTCAGGATAGCAGTGAAGAA	0.393													False	0	False	17:65907902	0	A	65907902	G	A	65907902	3	1	88	1	0	0	0	0	1	0	0	0	1502	971	34	2	4330	2	BPTF	17	65907902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2147	65907902	15287308	16955	24667											
BPTF	2186	broad.mit.edu	37	chr17	65924474	65924474	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcacttttttagaaaCgactggagcagcagaagccg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65924474C>T	ENST00000321892.4	+	18	6194	c.6133C>T	c.(6133-6135)Cga>Tga	p.R2045*	BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1906*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1919*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2045*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2045					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTTAGAAACGACTGGAGCA	0.418													False	0	True	17:65924474	0	T	65924474	C	T	65924474	4	4	88	1	0	0	0	0	0	1	0	0	1502	528	19	1	6203	1	BPTF	17	65924474	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16572	65924474	15270736	16956	24668											
BPTF	2186	broad.mit.edu	37	chr17	65971920	65971920	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagaaagagtacaaagaCgatattatgaaaagctgacg	11	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65971920C>T	ENST00000321892.4	+	29	9011	c.8950C>T	c.(8950-8952)Cga>Tga	p.R2984*	BPTF_ENST00000424123.3_Nonsense_Mutation_p.R2702*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.R2858*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2841*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2984	Bromo.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGTACAAAGACGATATTATGA	0.363													False	0	False	17:65971920	0	T	65971920	C	T	65971920	4	4	88	1	0	0	0	0	0	1	0	0	1502	528	19	1	9064	1	BPTF	17	65971920	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47446	65971920	15223290	16957	24669											
ARSG	22901	broad.mit.edu	37	chr17	66339816	66339816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctcaccggccggcttgGccttcgcaatggagtcacac	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66339816G>A	ENST00000448504.2	+	3	1086	c.290G>A	c.(289-291)gGc>gAc	p.G97D	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	97					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCCGGCTTGGCCTTCGCAAT	0.612													False	0	False	17:66339816	0	A	66339816	G	A	66339816	3	1	88	1	0	0	0	0	1	0	0	0	996	1203	42	2	296	2	ARSG	17	66339816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367896	66339816	14855394	16958	24670											
WIPI1	55062	broad.mit.edu	37	chr17	66425048	66425048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggtgtccactggatgacGcaactagcagccgtggcaac	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66425048G>A	ENST00000262139.5	-	10	994	c.995C>T	c.(994-996)gCg>gTg	p.A332V	WIPI1_ENST00000546360.1_Missense_Mutation_p.A250V|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	332					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACTGGATGACGCAACTAGCAG	0.458													False	0	False	17:66425048	0	A	66425048	G	A	66425048	3	1	88	1	0	0	0	0	1	0	0	0	17454	1087	38	1	361	1	WIPI1	17	66425048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85232	66425048	14770162	16959	24671											
PRKAR1A	5573	broad.mit.edu	37	chr17	66520194	66520194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttcggtctcctttatcGcaggagagactgtgattcag	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66520194G>A	ENST00000589228.1	+	5	606	c.478G>A	c.(478-480)Gca>Aca	p.A160T	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.A160T	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	160					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CTCCTTTATCGCAGGAGAGAC	0.418			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				False	0	False	17:66520194	0	A	66520194	G	A	66520194	3	1	88	1	0	0	0	0	1	0	0	0	12579	1087	38	1	492	1	PRKAR1A	17	66520194	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95146	66520194	14675016	16960	24672											
FAM20A	54757	broad.mit.edu	37	chr17	66533665	66533665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctggggccaactgttccaCtgggccgtcgactatgacac	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66533665C>A	ENST00000592554.1	-	11	2301	c.1579G>T	c.(1579-1581)Gtg>Ttg	p.V527L	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	527						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					AACTGTTCCACTGGGCCGTCG	0.572													False	0	False	17:66533665	0	A	66533665	C	A	66533665	3	1	88	1	0	0	0	0	1	0	0	0	5573	565	20	3	50	3	FAM20A	17	66533665	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13471	66533665	14661545	16961	24673											
FAM20A	54757	broad.mit.edu	37	chr17	66535523	66535523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggatggagatttcatcatggGagtgtcgtccgaacctagga	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66535523G>T	ENST00000592554.1	-	10	2038	c.1316C>A	c.(1315-1317)tCc>tAc	p.S439Y	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	439						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TTCATCATGGGAGTGTCGTCC	0.517													False	0	True	17:66535523	0	T	66535523	G	T	66535523	3	4	88	1	0	0	0	0	1	0	0	0	5573	1174	41	3	317	3	FAM20A	17	66535523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1858	66535523	14659687	16962	24674											
FAM20A	54757	broad.mit.edu	37	chr17	66538300	66538300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttggcgaagaagcacacgTtgctcgctggaggatgggga	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66538300T>C	ENST00000592554.1	-	7	1657	c.935A>G	c.(934-936)aAc>aGc	p.N312S	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	312						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GAAGCACACGTTGCTCGCTGG	0.577													False	0	False	17:66538300	0	C	66538300	T	C	66538300	3	2	88	1	0	0	0	0	1	0	0	0	5573	1725	60	4	710	4	FAM20A	17	66538300	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2777	66538300	14656910	16963	24675											
FAM20A	54757	broad.mit.edu	37	chr17	66596565	66596565	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccgctgtggctgccgccAgccggttcagtccggggctc	15	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66596565A>G	ENST00000592554.1	-	1	965	c.243T>C	c.(241-243)gcT>gcC	p.A81A		NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	81						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GGCTGCCGCCAGCCGGTTCAG	0.711													False	0	False	17:66596565	0	G	66596565	A	G	66596565	2	3	88	1	0	0	0	0	0	0	0	1	5573	175	7	4		4	FAM20A	17	66596565	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	58265	66596565	14598645	16964	24676											
ABCA8	10351	broad.mit.edu	37	chr17	66864494	66864494	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctaggtcaaagctctgtTtaactgcatagggatgaaca	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66864494T>G	ENST00000269080.2	-	37	4732	c.4595A>C	c.(4594-4596)aAa>aCa	p.K1532T	ABCA8_ENST00000430352.2_Missense_Mutation_p.K1572T|ABCA8_ENST00000586539.1_Missense_Mutation_p.K1572T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1532						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAAGCTCTGTTTAACTGCATA	0.348													False	0	True	17:66864494	0	G	66864494	T	G	66864494	3	3	88	1	0	0	0	0	1	0	0	0	38	1841	64	4	158	4	ABCA8	17	66864494	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	267929	66864494	14330716	16965	24677											
ABCA8	10351	broad.mit.edu	37	chr17	66891152	66891152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaagtcatcaatgcttgCccctaaggtgtagttaaaga	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66891152C>T	ENST00000269080.2	-	20	2784	c.2647G>A	c.(2647-2649)Gca>Aca	p.A883T	ABCA8_ENST00000430352.2_Missense_Mutation_p.A923T|ABCA8_ENST00000586539.1_Missense_Mutation_p.A923T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	883						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCAATGCTTGCCCCTAAGGTG	0.353													False	0	True	17:66891152	0	T	66891152	C	T	66891152	3	4	88	1	0	0	0	0	1	0	0	0	38	739	26	2	2174	2	ABCA8	17	66891152	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26658	66891152	14304058	16966	24678											
ABCA8	10351	broad.mit.edu	37	chr17	66903959	66903959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgataatttggcatcagGgatgtgctgtttaacaagtg	13	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66903959G>T	ENST00000269080.2	-	16	2217	c.2080C>A	c.(2080-2082)Cct>Act	p.P694T	ABCA8_ENST00000430352.2_Missense_Mutation_p.P734T|ABCA8_ENST00000586539.1_Missense_Mutation_p.P734T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	694						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGGCATCAGGGATGTGCTGT	0.333													False	0	True	17:66903959	0	T	66903959	G	T	66903959	3	4	88	1	0	0	0	0	1	0	0	0	38	1232	43	3	2757	3	ABCA8	17	66903959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12807	66903959	14291251	16967	24679											
ABCA8	10351	broad.mit.edu	37	chr17	66914273	66914273	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagaaggttccatacTtggtgtcttgaaaagggatc	10	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66914273T>C	ENST00000269080.2	-	14	1979	c.1842A>G	c.(1840-1842)caA>caG	p.Q614Q	ABCA8_ENST00000430352.2_Silent_p.Q654Q|ABCA8_ENST00000586539.1_Silent_p.Q654Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	614	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTTCCATACTTGGTGTCTTG	0.458													False	0	False	17:66914273	0	C	66914273	T	C	66914273	2	2	88	1	0	0	0	0	0	0	0	1	38	1606	56	4		4	ABCA8	17	66914273	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10314	66914273	14280937	16968	24680											
ABCA8	10351	broad.mit.edu	37	chr17	66925243	66925243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcaagcttaaaatccactCcaaggatgcaggaaggtgtc	10	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66925243C>T	ENST00000269080.2	-	8	1209	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	ABCA8_ENST00000430352.2_Missense_Mutation_p.E358K|ABCA8_ENST00000586539.1_Missense_Mutation_p.E358K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	358						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAAATCCACTCCAAGGATGCA	0.478													False	0	False	17:66925243	0	T	66925243	C	T	66925243	3	4	88	1	0	0	0	0	1	0	0	0	38	864	30	2	3797	2	ABCA8	17	66925243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10970	66925243	14269967	16969	24681											
ABCA8	10351	broad.mit.edu	37	chr17	66925263	66925263	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaaggatgcaggaaggtgtCtgtacagtgatgtgaacccc	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66925263C>A	ENST00000269080.2	-	8	1189	c.1052G>T	c.(1051-1053)aGa>aTa	p.R351I	ABCA8_ENST00000430352.2_Missense_Mutation_p.R351I|ABCA8_ENST00000586539.1_Missense_Mutation_p.R351I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	351						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGGAAGGTGTCTGTACAGTGA	0.473													False	0	False	17:66925263	0	A	66925263	C	A	66925263	3	1	88	1	0	0	0	0	1	0	0	0	38	913	32	3	3817	3	ABCA8	17	66925263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	66925263	14269947	16970	24682											
ABCA8	10351	broad.mit.edu	37	chr17	66928609	66928609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgcatcttcatattttttCcagtaactgacatcagctcc	4	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66928609C>T	ENST00000269080.2	-	6	754	c.617G>A	c.(616-618)gGa>gAa	p.G206E	ABCA8_ENST00000430352.2_Missense_Mutation_p.G206E|ABCA8_ENST00000586539.1_Missense_Mutation_p.G206E	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	206						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CATATTTTTTCCAGTAACTGA	0.338													False	0	True	17:66928609	0	T	66928609	C	T	66928609	3	4	88	1	0	0	0	0	1	0	0	0	38	855	30	2	4260	2	ABCA8	17	66928609	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3346	66928609	14266601	16971	24683											
ABCA9	10350	broad.mit.edu	37	chr17	66978725	66978725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctctaatttgaagaaagcCtgtgataaaggtcgcacatc	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66978725C>A	ENST00000340001.4	-	37	4909	c.4698G>T	c.(4696-4698)caG>caT	p.Q1566H	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Missense_Mutation_p.Q1528H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1566					transport	integral to membrane	ATP binding|ATPase activity	p.Q1566H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGAAGAAAGCCTGTGATAAAG	0.418													False	0	False	17:66978725	0	A	66978725	C	A	66978725	3	1	88	1	0	0	0	0	1	0	0	0	39	680	24	3	188	3	ABCA9	17	66978725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50116	66978725	14216485	16972	24684											
ABCA9	10350	broad.mit.edu	37	chr17	66981212	66981212	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctttcgctttattccctcTgacaaggtcttcacgggagc	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66981212T>C	ENST00000340001.4	-	33	4477	c.4266A>G	c.(4264-4266)tcA>tcG	p.S1422S	ABCA9_ENST00000370732.2_Silent_p.S1422S|ABCA9_ENST00000453985.2_Silent_p.S1384S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1422	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTATTCCCTCTGACAAGGTCT	0.537													False	0	False	17:66981212	0	C	66981212	T	C	66981212	2	2	88	1	0	0	0	0	0	0	0	1	39	1567	55	4		4	ABCA9	17	66981212	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2487	66981212	14213998	16973	24685											
ABCA9	10350	broad.mit.edu	37	chr17	66987055	66987055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttcctcctctccttcagGctcttctgggtttggaaaaa	7	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66987055G>A	ENST00000340001.4	-	29	3971	c.3760C>T	c.(3760-3762)Cct>Tct	p.P1254S	ABCA9_ENST00000370732.2_Missense_Mutation_p.P1254S|ABCA9_ENST00000453985.2_Missense_Mutation_p.P1216S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1254					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCTCCTTCAGGCTCTTCTGGG	0.388													False	0	False	17:66987055	0	A	66987055	G	A	66987055	3	1	88	1	0	0	0	0	1	0	0	0	39	1203	42	2	1158	2	ABCA9	17	66987055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5843	66987055	14208155	16974	24686											
ABCA9	10350	broad.mit.edu	37	chr17	66989177	66989177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattagcagtgccaggtataCaatttcagattctgaagctc	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66989177C>T	ENST00000340001.4	-	27	3815	c.3604G>A	c.(3604-3606)Gta>Ata	p.V1202I	ABCA9_ENST00000370732.2_Missense_Mutation_p.V1202I|ABCA9_ENST00000453985.2_Missense_Mutation_p.V1164I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1202					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCCAGGTATACAATTTCAGAT	0.343													False	0	False	17:66989177	0	T	66989177	C	T	66989177	3	4	88	1	0	0	0	0	1	0	0	0	39	478	17	2	1322	2	ABCA9	17	66989177	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2122	66989177	14206033	16975	24687											
ABCA9	10350	broad.mit.edu	37	chr17	67004260	67004260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggctaaaaatataatcCattatttgcattagcaggag	8	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67004260C>T	ENST00000340001.4	-	24	3475	c.3264G>A	c.(3262-3264)atG>atA	p.M1088I	ABCA9_ENST00000370732.2_Missense_Mutation_p.M1088I|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.M1088I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1088					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAATATAATCCATTATTTGCA	0.363													False	0	False	17:67004260	0	T	67004260	C	T	67004260	3	4	88	1	0	0	0	0	1	0	0	0	39	594	21	2	1674	2	ABCA9	17	67004260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15083	67004260	14190950	16976	24688											
ABCA9	10350	broad.mit.edu	37	chr17	67012395	67012395	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatataattatacttactTcaaaaaatgtgcttctgtca	5	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67012395T>C	ENST00000340001.4	-	22	3249	c.3038A>G	c.(3037-3039)gAa>gGa	p.E1013G	ABCA9_ENST00000370732.2_Splice_Site_p.E1013G|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Splice_Site_p.E1013G	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1013					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TATACTTACTTCAAAAAATGT	0.303													False	0	True	17:67012395	0	C	67012395	T	C	67012395	5	2	88	1	0	0	0	0	0	0	1	0	39	1797	62	4	1908	4	ABCA9	17	67012395	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8135	67012395	14182815	16977	24689											
ABCA9	10350	broad.mit.edu	37	chr17	67016648	67016648	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgtttcgtggaaggaAgacaaaacttgttccagctc	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67016648A>G	ENST00000340001.4	-	19	2692	c.2481T>C	c.(2479-2481)tcT>tcC	p.S827S	ABCA9_ENST00000370732.2_Silent_p.S827S|ABCA9_ENST00000453985.2_Silent_p.S827S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	827					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CGTGGAAGGAAGACAAAACTT	0.403													False	0	True	17:67016648	0	G	67016648	A	G	67016648	2	3	88	1	0	0	0	0	0	0	0	1	39	59	3	4		4	ABCA9	17	67016648	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4253	67016648	14178562	16978	24690											
ABCA9	10350	broad.mit.edu	37	chr17	67020491	67020491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacacctttcattcagatgCaaactaacatttaaaaagaa	3	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67020491C>T	ENST00000340001.4	-	17	2356	c.2145G>A	c.(2143-2145)ttG>ttA	p.L715L	ABCA9_ENST00000370732.2_Silent_p.L715L|ABCA9_ENST00000453985.2_Silent_p.L715L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	715	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CATTCAGATGCAAACTAACAT	0.303													False	0	True	17:67020491	0	T	67020491	C	T	67020491	2	4	88	1	0	0	0	0	0	0	0	1	39	709	25	2		2	ABCA9	17	67020491	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3843	67020491	14174719	16979	24691											
ABCA9	10350	broad.mit.edu	37	chr17	67022579	67022579	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagagcctgcacacttcaGcttcccattggatatgaaca	8	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67022579G>T	ENST00000340001.4	-	16	2291	c.2080C>A	c.(2080-2082)Ctg>Atg	p.L694M	ABCA9_ENST00000370732.2_Missense_Mutation_p.L694M|ABCA9_ENST00000453985.2_Missense_Mutation_p.L694M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	694	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCACACTTCAGCTTCCCATTG	0.393													False	0	False	17:67022579	0	T	67022579	G	T	67022579	3	4	88	1	0	0	0	0	1	0	0	0	39	962	34	3	2890	3	ABCA9	17	67022579	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2088	67022579	14172631	16980	24692											
ABCA9	10350	broad.mit.edu	37	chr17	67029942	67029942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccaacatgaaaagagtagCtattatgaggtatggatttt	9	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67029942C>T	ENST00000340001.4	-	9	1412	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T	ABCA9_ENST00000370732.2_Missense_Mutation_p.A401T|ABCA9_ENST00000453985.2_Missense_Mutation_p.A401T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	401					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAAGAGTAGCTATTATGAGG	0.323													False	0	False	17:67029942	0	T	67029942	C	T	67029942	3	4	88	1	0	0	0	0	1	0	0	0	39	797	28	2	3797	2	ABCA9	17	67029942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7363	67029942	14165268	16981	24693											
ABCA6	23460	broad.mit.edu	37	chr17	67106975	67106975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctttccagtggcaaagTatatacaagcttttctttgt	7	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67106975T>C	ENST00000284425.2	-	17	2413	c.2239A>G	c.(2239-2241)Act>Gct	p.T747A		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	747					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGTGGCAAAGTATATACAAGC	0.294													False	0	True	17:67106975	0	C	67106975	T	C	67106975	3	2	88	1	0	0	0	0	1	0	0	0	36	1638	57	4	2706	4	ABCA6	17	67106975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77033	67106975	14088235	16982	24694											
ABCA6	23460	broad.mit.edu	37	chr17	67109448	67109448	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcaggaggctccacacTtgatctctggaaaagggatc	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67109448T>G	ENST00000284425.2	-	15	2130	c.1956A>C	c.(1954-1956)caA>caC	p.Q652H		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	652	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGCTCCACACTTGATCTCTGG	0.413													False	0	False	17:67109448	0	G	67109448	T	G	67109448	3	3	88	1	0	0	0	0	1	0	0	0	36	1606	56	4	2997	4	ABCA6	17	67109448	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2473	67109448	14085762	16983	24695											
ABCA6	23460	broad.mit.edu	37	chr17	67111029	67111029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagttatctttctgatttcCtccaagtcttgcatttcaga	5	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67111029C>A	ENST00000284425.2	-	13	1830	c.1656G>T	c.(1654-1656)gaG>gaT	p.E552D		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	552	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCTGATTTCCTCCAAGTCTT	0.328													False	0	False	17:67111029	0	A	67111029	C	A	67111029	3	1	88	1	0	0	0	0	1	0	0	0	36	680	24	3	3305	3	ABCA6	17	67111029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1581	67111029	14084181	16984	24696											
ABCA6	23460	broad.mit.edu	37	chr17	67119474	67119474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttctcaataaccttagCattagtcctttggtgttgga	7	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67119474C>T	ENST00000284425.2	-	10	1516	c.1342G>A	c.(1342-1344)Gct>Act	p.A448T		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	448					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAACCTTAGCATTAGTCCTT	0.373													False	0	False	17:67119474	0	T	67119474	C	T	67119474	3	4	88	1	0	0	0	0	1	0	0	0	36	710	25	2	3631	2	ABCA6	17	67119474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8445	67119474	14075736	16985	24697											
ABCA10	10349	broad.mit.edu	37	chr17	67215738	67215738	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcagtttcttaaattttcCtctttcccttgcaacattta	2	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67215738C>A	ENST00000269081.4	-	7	1387	c.478G>T	c.(478-480)Gga>Tga	p.G160*	ABCA10_ENST00000416101.2_Nonsense_Mutation_p.G160*|ABCA10_ENST00000432313.2_Nonsense_Mutation_p.G160*	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	160					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTAAATTTTCCTCTTTCCCTT	0.318													False	0	False	17:67215738	0	A	67215738	C	A	67215738	4	1	88	1	0	0	0	0	0	1	0	0	29	690	24	3	4289	3	ABCA10	17	67215738	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96264	67215738	13979472	16986	24698											
ABCA5	23461	broad.mit.edu	37	chr17	67266820	67266820	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgataaagatagtagttActaatgatattcactaatat	5	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67266820A>G	ENST00000392676.3	-	22	3028	c.2964T>C	c.(2962-2964)agT>agC	p.S988S	ABCA5_ENST00000588877.1_Silent_p.S988S|ABCA5_ENST00000392677.2_Silent_p.S989S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	988					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GATAGTAGTTACTAATGATAT	0.294													False	0	False	17:67266820	0	G	67266820	A	G	67266820	2	3	88	1	0	0	0	0	0	0	0	1	35	388	14	4		4	ABCA5	17	67266820	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51082	67266820	13928390	16987	24699											
ABCA5	23461	broad.mit.edu	37	chr17	67273834	67273834	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtaaagaaatgaaactttgCtattgtatacatctgttgtt	8	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67273834C>A	ENST00000392676.3	-	19	2606	c.2542G>T	c.(2542-2544)Gca>Tca	p.A848S	ABCA5_ENST00000588877.1_Missense_Mutation_p.A848S|ABCA5_ENST00000392677.2_Missense_Mutation_p.A848S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	848					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TGAAACTTTGCTATTGTATAC	0.353													False	0	False	17:67273834	0	A	67273834	C	A	67273834	3	1	88	1	0	0	0	0	1	0	0	0	35	797	28	3	2470	3	ABCA5	17	67273834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7014	67273834	13921376	16988	24700											
ABCA5	23461	broad.mit.edu	37	chr17	67285372	67285372	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctttcttttttgaccaccActtaattttttagcttggtt	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67285372A>C	ENST00000392676.3	-	14	1912	c.1848T>G	c.(1846-1848)agT>agG	p.S616R	ABCA5_ENST00000588877.1_Missense_Mutation_p.S616R|ABCA5_ENST00000392677.2_Missense_Mutation_p.S616R			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	616	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTTGACCACCACTTAATTTTT	0.308													False	0	False	17:67285372	0	C	67285372	A	C	67285372	3	2	88	1	0	0	0	0	1	0	0	0	35	156	6	4	3184	4	ABCA5	17	67285372	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11538	67285372	13909838	16989	24701											
ABCA5	23461	broad.mit.edu	37	chr17	67299047	67299047	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcattaaagcaaaaaataCctataaaatacaaatattaa	2	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67299047C>T	ENST00000392676.3	-	8	995	c.931G>A	c.(931-933)Gta>Ata	p.V311I	ABCA5_ENST00000588877.1_Splice_Site_p.V311I|ABCA5_ENST00000392677.2_Splice_Site_p.V311I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	311					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GCAAAAAATACCTATAAAATA	0.274													False	0	False	17:67299047	0	T	67299047	C	T	67299047	5	4	88	1	0	0	0	0	0	0	1	0	35	521	18	2	4125	2	ABCA5	17	67299047	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13675	67299047	13896163	16990	24702											
ABCA5	23461	broad.mit.edu	37	chr17	67309352	67309352	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccataggattgagttctataTtaggcacttcttcatatttc	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67309352T>G	ENST00000392676.3	-	3	252	c.188A>C	c.(187-189)aAt>aCt	p.N63T	ABCA5_ENST00000588877.1_Missense_Mutation_p.N63T|ABCA5_ENST00000392677.2_Missense_Mutation_p.N63T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	63					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GAGTTCTATATTAGGCACTTC	0.289													False	0	False	17:67309352	0	G	67309352	T	G	67309352	3	3	88	1	0	0	0	0	1	0	0	0	35	1493	52	4	4888	4	ABCA5	17	67309352	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10305	67309352	13885858	16991	24703											
MAP2K6	5608	broad.mit.edu	37	chr17	67513640	67513640	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattccttttctctcttgcaGaactttgaggtgaaggcaga	9	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67513640G>A	ENST00000590474.1	+	4	419		c.e4-1		MAP2K6_ENST00000589647.1_Splice_Site	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6						activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CTCTCTTGCAGAACTTTGAGG	0.473													False	0	False	17:67513640	0	A	67513640	G	A	67513640	5	1	88	1	0	0	0	0	0	0	1	0	9308	956	33	2	146	2	MAP2K6	17	67513640	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204288	67513640	13681570	16992	24704											
MAP2K6	5608	broad.mit.edu	37	chr17	67522730	67522730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattgagttggccatccttcGatttccctatgattcatggg	10	9	1	2	rs146595343	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67522730G>A	ENST00000590474.1	+	10	1048	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	MAP2K6_ENST00000589647.1_Missense_Mutation_p.R198Q	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	254	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R254L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GCCATCCTTCGATTTCCCTAT	0.463													False	0	False	17:67522730	0	A	67522730	G	A	67522730	3	1	88	1	0	0	0	0	1	0	0	0	9308	1058	37	1	799	1	MAP2K6	17	67522730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9090	67522730	13672480	16993	24705											
KCNJ16	3773	broad.mit.edu	37	chr17	68128301	68128301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggctacccgccagagcacAttatagctgagaagagaaga	11	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68128301A>G	ENST00000585558.1	+	4	566	c.178A>G	c.(178-180)Att>Gtt	p.I60V	KCNJ16_ENST00000589377.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392670.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392671.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000283936.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000586462.1_Missense_Mutation_p.I64V			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	25					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GCCAGAGCACATTATAGCTGA	0.453													False	0	False	17:68128301	0	G	68128301	A	G	68128301	3	3	88	1	0	0	0	0	1	0	0	0	8100	217	8	4	75	4	KCNJ16	17	68128301	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	605571	68128301	13066909	16994	24706											
KCNJ16	3773	broad.mit.edu	37	chr17	68128331	68128331	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagagaagagcaagaagaCgattacttcacaaagatggc	11	6	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68128331C>T	ENST00000585558.1	+	4	596	c.208C>T	c.(208-210)Cga>Tga	p.R70*	KCNJ16_ENST00000589377.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.R74*			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	35					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGCAAGAAGACGATTACTTCA	0.453													False	0	False	17:68128331	0	T	68128331	C	T	68128331	4	4	88	1	0	0	0	0	0	1	0	0	8100	528	19	1	105	1	KCNJ16	17	68128331	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	68128331	13066879	16995	24707											
KCNJ2	3759	broad.mit.edu	37	chr17	68171388	68171388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggggcaacggtacctcGcagacatcttcaccacgtgt	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68171388G>A	ENST00000243457.3	+	2	591	c.208G>A	c.(208-210)Gca>Aca	p.A70T	KCNJ2_ENST00000535240.1_Missense_Mutation_p.A70T	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	70					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACGGTACCTCGCAGACATCTT	0.522													False	0	False	17:68171388	0	A	68171388	G	A	68171388	3	1	88	1	0	0	0	0	1	0	0	0	8101	1087	38	1	210	1	KCNJ2	17	68171388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43057	68171388	13023822	16996	24708											
COG1	9382	broad.mit.edu	37	chr17	71196797	71196797	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatccgggacgccatgtgggAgttacttaccaatgagtcca	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71196797A>T	ENST00000299886.4	+	6	1243	c.1163A>T	c.(1162-1164)gAg>gTg	p.E388V		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	388					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GCCATGTGGGAGTTACTTACC	0.507													False	0	True	17:71196797	0	T	71196797	A	T	71196797	3	4	88	1	0	0	0	0	1	0	0	0	3680	304	11	5	1185	5	COG1	17	71196797	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3025409	71196797	9998413	16997	24709											
COG1	9382	broad.mit.edu	37	chr17	71197321	71197321	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcagctttgcaggaacTtgaaagcagcaccagcaact	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71197321T>G	ENST00000299886.4	+	7	1435	c.1355T>G	c.(1354-1356)cTt>cGt	p.L452R		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	452					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTGCAGGAACTTGAAAGCAGC	0.463													False	0	False	17:71197321	0	G	71197321	T	G	71197321	3	3	88	1	0	0	0	0	1	0	0	0	3680	1609	56	4	1381	4	COG1	17	71197321	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	524	71197321	9997889	16998	24710											
C17orf80	55028	broad.mit.edu	37	chr17	71232062	71232062	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacgcatcagagaaaacctcTcctaaaagagaacttgccaa	6	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232062T>C	ENST00000359042.2	+	3	635	c.441T>C	c.(439-441)tcT>tcC	p.S147S	C17orf80_ENST00000255557.4_Silent_p.S147S|C17orf80_ENST00000535032.2_Silent_p.S147S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Silent_p.S147S|C17orf80_ENST00000577615.1_Silent_p.S147S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000426147.2_Silent_p.S147S	NM_017941.4	NP_060411	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	147						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AGAAAACCTCTCCTAAAAGAG	0.388													False	0	False	17:71232062	0	C	71232062	T	C	71232062	2	2	88	1	0	0	0	0	0	0	0	1	1898	1538	54	4		4	C17orf80	17	71232062	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34741	71232062	9963148	16999	24711											
C17orf80	55028	broad.mit.edu	37	chr17	71232128	71232128	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgtaatccttcagaagcTggagcgtctttactggttgg	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232128T>C	ENST00000359042.2	+	3	701	c.507T>C	c.(505-507)gcT>gcC	p.A169A	C17orf80_ENST00000255557.4_Silent_p.A169A|C17orf80_ENST00000535032.2_Silent_p.A169A|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Silent_p.A169A|C17orf80_ENST00000577615.1_Silent_p.A169A|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000426147.2_Silent_p.A169A	NM_017941.4	NP_060411	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	169						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CTTCAGAAGCTGGAGCGTCTT	0.403													False	0	False	17:71232128	0	C	71232128	T	C	71232128	2	2	88	1	0	0	0	0	0	0	0	1	1898	1567	55	4		4	C17orf80	17	71232128	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	66	71232128	9963082	17000	24712											
C17orf80	55028	broad.mit.edu	37	chr17	71232555	71232555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacgtgtgggagcaaaggaAatgcagagaaaagtatgtct	14	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232555A>G	ENST00000359042.2	+	3	1128	c.934A>G	c.(934-936)Aat>Gat	p.N312D	C17orf80_ENST00000255557.4_Missense_Mutation_p.N312D|C17orf80_ENST00000535032.2_Missense_Mutation_p.N312D|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.N312D|C17orf80_ENST00000577615.1_Missense_Mutation_p.N312D|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.N312D	NM_017941.4	NP_060411	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	312						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGCAAAGGAAATGCAGAGAA	0.443													False	0	True	17:71232555	0	G	71232555	A	G	71232555	3	3	88	1	0	0	0	0	1	0	0	0	1898	14	1	4	936	4	C17orf80	17	71232555	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	427	71232555	9962655	17001	24713											
C17orf80	55028	broad.mit.edu	37	chr17	71233036	71233036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagagctctatcctggttAccttggactaggggtgttgc	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71233036A>G	ENST00000359042.2	+	3	1609	c.1415A>G	c.(1414-1416)tAc>tGc	p.Y472C	C17orf80_ENST00000255557.4_Missense_Mutation_p.Y472C|C17orf80_ENST00000535032.2_Missense_Mutation_p.Y472C|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.Y472C|C17orf80_ENST00000577615.1_Missense_Mutation_p.Y472C|C17orf80_ENST00000426147.2_Missense_Mutation_p.Y472C	NM_017941.4	NP_060411	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	472						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TATCCTGGTTACCTTGGACTA	0.552													False	0	False	17:71233036	0	G	71233036	A	G	71233036	3	3	88	1	0	0	0	0	1	0	0	0	1898	391	14	4	1417	4	C17orf80	17	71233036	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	481	71233036	9962174	17002	24714											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282594	71282594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtccgctcgggaacggcGcttggagtgcaccgagctgg	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71282594G>A	ENST00000335793.3	-	2	440	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	CDC42EP4_ENST00000439510.2_Missense_Mutation_p.R16C|CDC42EP4_ENST00000581014.1_Missense_Mutation_p.R16C			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	16					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CGGGAACGGCGCTTGGAGTGC	0.682													False	0	False	17:71282594	0	A	71282594	G	A	71282594	3	1	88	1	0	0	0	0	1	0	0	0	3101	1087	38	1	1028	1	CDC42EP4	17	71282594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49558	71282594	9912616	17003	24715											
SDK2	54549	broad.mit.edu	37	chr17	71354234	71354234	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacctgaaggtctggcctcGatgacgtagcgggtgatggg	17	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71354234G>A	ENST00000392650.3	-	40	5577	c.5577C>T	c.(5575-5577)atC>atT	p.I1859I	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.I1840I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1859	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCTGGCCTCGATGACGTAGC	0.647													False	0	False	17:71354234	0	A	71354234	G	A	71354234	2	1	88	1	0	0	0	0	0	0	0	1	14050	1048	37	1		1	SDK2	17	71354234	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71640	71354234	9840976	17004	24716											
SDK2	54549	broad.mit.edu	37	chr17	71364628	71364628	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggccacgctgaccatgtaGgccgtgtagccagtcaagtt	13	12	1	1	rs146100082	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71364628G>T	ENST00000392650.3	-	37	5085	c.5085C>A	c.(5083-5085)gcC>gcA	p.A1695A	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.A1676A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1695	Fibronectin type-III 11.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGACCATGTAGGCCGTGTAGC	0.632													False	0	False	17:71364628	0	T	71364628	G	T	71364628	2	4	88	1	0	0	0	0	0	0	0	1	14050	987	35	3		3	SDK2	17	71364628	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10394	71364628	9830582	17005	24717											
SDK2	54549	broad.mit.edu	37	chr17	71398243	71398243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggccgggcggtcaccatgGtaacctcctcttcctgttcc	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71398243G>A	ENST00000392650.3	-	19	2522	c.2522C>T	c.(2521-2523)aCc>aTc	p.T841I	SDK2_ENST00000388726.3_Missense_Mutation_p.T841I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	841	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGTCACCATGGTAACCTCCTC	0.587													False	0	False	17:71398243	0	A	71398243	G	A	71398243	3	1	88	1	0	0	0	0	1	0	0	0	14050	1261	44	2	4104	2	SDK2	17	71398243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33615	71398243	9796967	17006	24718											
SDK2	54549	broad.mit.edu	37	chr17	71398273	71398273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctgttccggctcccagGcgatcagctgcggagaggcg	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71398273G>A	ENST00000392650.3	-	19	2492	c.2492C>T	c.(2491-2493)gCc>gTc	p.A831V	SDK2_ENST00000388726.3_Missense_Mutation_p.A831V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	831	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CGGCTCCCAGGCGATCAGCTG	0.602													False	0	False	17:71398273	0	A	71398273	G	A	71398273	3	1	88	1	0	0	0	0	1	0	0	0	14050	1203	42	2	4134	2	SDK2	17	71398273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	71398273	9796937	17007	24719											
SDK2	54549	broad.mit.edu	37	chr17	71418553	71418553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggggtccacactggccaGgagtacagtccagggggcat	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71418553G>A	ENST00000392650.3	-	15	1918	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	SDK2_ENST00000388726.3_Silent_p.L640L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	640	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACACTGGCCAGGAGTACAGTC	0.592													False	0	False	17:71418553	0	A	71418553	G	A	71418553	2	1	88	1	0	0	0	0	0	0	0	1	14050	991	35	2		2	SDK2	17	71418553	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20280	71418553	9776657	17008	24720											
TTYH2	94015	broad.mit.edu	37	chr17	72239532	72239532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggctctcctacctcctgCtctttatcctggacctggtc	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72239532C>T	ENST00000269346.4	+	5	729	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F	TTYH2_ENST00000529107.1_Missense_Mutation_p.L198F|TTYH2_ENST00000534346.1_3'UTR	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	219						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTACCTCCTGCTCTTTATCCT	0.622													False	0	False	17:72239532	0	T	72239532	C	T	72239532	3	4	88	1	0	0	0	0	1	0	0	0	16824	797	28	2	673	2	TTYH2	17	72239532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	820979	72239532	8955678	17009	24721											
TTYH2	94015	broad.mit.edu	37	chr17	72239558	72239558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctggacctggtcatctgCctcattgcctgcctgggact	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72239558C>T	ENST00000269346.4	+	5	755	c.681C>T	c.(679-681)tgC>tgT	p.C227C	TTYH2_ENST00000529107.1_Silent_p.C206C|TTYH2_ENST00000534346.1_3'UTR	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	227						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGTCATCTGCCTCATTGCCT	0.607													False	0	False	17:72239558	0	T	72239558	C	T	72239558	2	4	88	1	0	0	0	0	0	0	0	1	16824	747	26	2		2	TTYH2	17	72239558	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26	72239558	8955652	17010	24722											
DNAI2	64446	broad.mit.edu	37	chr17	72301399	72301399	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accgagcagggcatcgtcatCtcctgcaaccgcaaggccaa	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72301399C>A	ENST00000579490.1	+	8	1335	c.1200C>A	c.(1198-1200)atC>atA	p.I400I	DNAI2_ENST00000311014.6_Silent_p.I343I|DNAI2_ENST00000307504.5_Silent_p.I200I|DNAI2_ENST00000582036.1_Silent_p.I343I|DNAI2_ENST00000446837.2_Silent_p.I343I			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	343					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCATCGTCATCTCCTGCAACC	0.572									Kartagener syndrome				False	0	False	17:72301399	0	A	72301399	C	A	72301399	2	1	88	1	0	0	0	0	0	0	0	1	4640	903	32	3		3	DNAI2	17	72301399	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61841	72301399	8893811	17011	24723											
DNAI2	64446	broad.mit.edu	37	chr17	72308348	72308348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaaggaggcagacgcCataaagctgacgccagtgcc	13	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72308348C>T	ENST00000579490.1	+	11	2007	c.1872C>T	c.(1870-1872)gcC>gcT	p.A624A	DNAI2_ENST00000311014.6_Silent_p.A567A|DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000582036.1_Silent_p.A555A|DNAI2_ENST00000446837.2_Silent_p.A567A			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	567					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGCAGACGCCATAAAGCTGA	0.607									Kartagener syndrome				False	0	False	17:72308348	0	T	72308348	C	T	72308348	2	4	88	1	0	0	0	0	0	0	0	1	4640	581	21	2		2	DNAI2	17	72308348	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6949	72308348	8886862	17012	24724											
KIF19	124602	broad.mit.edu	37	chr17	72339244	72339244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaacgacctcttccgtgCcatcgaggagaccagcaatg	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72339244C>T	ENST00000389916.4	+	5	539	c.401C>T	c.(400-402)gCc>gTc	p.A134V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	134	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTCTTCCGTGCCATCGAGGAG	0.592													False	0	False	17:72339244	0	T	72339244	C	T	72339244	3	4	88	1	0	0	0	0	1	0	0	0	8332	739	26	2	419	2	KIF19	17	72339244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30896	72339244	8855966	17013	24725											
KIF19	124602	broad.mit.edu	37	chr17	72345379	72345379	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccagtacaccagcatcatCgctgacctgcggggcgagat	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72345379C>T	ENST00000389916.4	+	10	1242	c.1104C>T	c.(1102-1104)atC>atT	p.I368I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	368					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAGCATCATCGCTGACCTGC	0.642													False	0	False	17:72345379	0	T	72345379	C	T	72345379	2	4	88	1	0	0	0	0	0	0	0	1	8332	874	31	1		1	KIF19	17	72345379	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6135	72345379	8849831	17014	24726											
KIF19	124602	broad.mit.edu	37	chr17	72346711	72346711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacacctgctcaccatcgCcgggtaagcccccctcccag	8	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72346711C>T	ENST00000389916.4	+	11	1523	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	462					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTCACCATCGCCGGGTAAGCC	0.672													False	0	False	17:72346711	0	T	72346711	C	T	72346711	3	4	88	1	0	0	0	0	1	0	0	0	8332	739	26	2	1427	2	KIF19	17	72346711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1332	72346711	8848499	17015	24727											
GPRC5C	0	broad.mit.edu	37	chr17	72435964	72435964	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggactgcctctcttcCtgttcccaggggcctgggcc	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72435964C>A	ENST00000392627.1	+	2	1310	c.184C>A	c.(184-186)Ctg>Atg	p.L62M	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Missense_Mutation_p.L62M|GPRC5C_ENST00000392629.2_Missense_Mutation_p.L29M	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	17						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCCTCTCTTCCTGTTCCCAGG	0.642													False	0	False	17:72435964	0	A	72435964	C	A	72435964	3	1	88	1	0	0	0	0	1	0	0	0	6773	680	24	3	198	3	GPRC5C	17	72435964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89253	72435964	8759246	17016	24728											
GPRC5C	0	broad.mit.edu	37	chr17	72436648	72436648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtaagcatggggtctttGtgctcctcaccacagccacc	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72436648G>A	ENST00000392627.1	+	2	1994	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.V257M	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	245						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGGGGTCTTTGTGCTCCTCAC	0.607													False	0	True	17:72436648	0	A	72436648	G	A	72436648	3	1	88	1	0	0	0	0	1	0	0	0	6773	1377	48	2	882	2	GPRC5C	17	72436648	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	684	72436648	8758562	17017	24729											
GPRC5C	0	broad.mit.edu	37	chr17	72439974	72439974	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagctaagaggccggtgtcaCcatacagcgggtacaatggg	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72439974C>A	ENST00000392627.1	+	3	2330	c.1204C>A	c.(1204-1206)Cca>Aca	p.P402T	GPRC5C_ENST00000342648.5_Missense_Mutation_p.P42T|GPRC5C_ENST00000481232.1_Missense_Mutation_p.H141Q|GPRC5C_ENST00000392629.2_Missense_Mutation_p.P369T|GPRC5C_ENST00000582873.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	357						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCCGGTGTCACCATACAGCGG	0.572													False	0	False	17:72439974	0	A	72439974	C	A	72439974	3	1	88	1	0	0	0	0	1	0	0	0	6773	507	18	3	1222	3	GPRC5C	17	72439974	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3326	72439974	8755236	17018	24730											
CD300A	11314	broad.mit.edu	37	chr17	72477915	72477915	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctggagctgctgatgtgGcctctgcaggaaaagccagc	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72477915G>A	ENST00000360141.3	+	6	1005	c.717G>A	c.(715-717)tgG>tgA	p.W239*	CD300A_ENST00000310828.5_Nonsense_Mutation_p.W126*|CD300A_ENST00000577511.1_Nonsense_Mutation_p.W109*|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Nonsense_Mutation_p.W43*	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	239					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGCTGATGTGGCCTCTGCAGG	0.637													False	0	False	17:72477915	0	A	72477915	G	A	72477915	4	1	88	1	0	0	0	0	0	1	0	0	3019	1212	42	2	739	2	CD300A	17	72477915	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37941	72477915	8717295	17019	24731											
C17orf77	146723	broad.mit.edu	37	chr17	72588204	72588204	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatggatgaattggcgctgTcattttccctgacatgtctc	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72588204T>C	ENST00000392620.1	+	3	381	c.19T>C	c.(19-21)Tca>Cca	p.S7P	C17orf77_ENST00000328023.2_Missense_Mutation_p.S7P|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	7						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATTGGCGCTGTCATTTTCCCT	0.463													False	0	False	17:72588204	0	C	72588204	T	C	72588204	3	2	88	1	0	0	0	0	1	0	0	0	1895	1667	58	4	21	4	C17orf77	17	72588204	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110289	72588204	8607006	17020	24732											
CD300LF	146722	broad.mit.edu	37	chr17	72699238	72699238	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcttgggtgactggtgCtgtaaacgtagtggaggtag	15	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72699238C>A	ENST00000361254.4	-	3	435	c.436G>T	c.(436-438)Gca>Tca	p.A146S	RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000583937.1_Missense_Mutation_p.A143S|CD300LF_ENST00000326165.6_Splice_Site|CD300LF_ENST00000581500.1_Missense_Mutation_p.A146S|CD300LF_ENST00000464910.1_Splice_Site|CD300LF_ENST00000469092.1_Splice_Site|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000343125.4_Splice_Site|CD300LF_ENST00000301573.9_Splice_Site			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	128						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGACTGGTGCTGTAAACGTA	0.567													False	0	False	17:72699238	0	A	72699238	C	A	72699238	3	1	88	1	0	0	0	0	1	0	0	0	3024	811	28	3	510	3	CD300LF	17	72699238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111034	72699238	8495972	17021	24733											
CD300LF	146722	broad.mit.edu	37	chr17	72700910	72700910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggagccccgctccaagCcattcactgttgttggaccg	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72700910C>T	ENST00000469092.1	-	3	374	c.98G>A	c.(97-99)gGc>gAc	p.G33D	RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000583937.1_Missense_Mutation_p.G30D|CD300LF_ENST00000326165.6_Missense_Mutation_p.G30D|CD300LF_ENST00000581500.1_Missense_Mutation_p.G33D|CD300LF_ENST00000464910.1_Missense_Mutation_p.G33D|CD300LF_ENST00000361254.4_Missense_Mutation_p.G33D|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000343125.4_Missense_Mutation_p.G33D|CD300LF_ENST00000301573.9_Missense_Mutation_p.G30D			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	30	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCGCTCCAAGCCATTCACTGT	0.542													False	0	False	17:72700910	0	T	72700910	C	T	72700910	3	4	88	1	0	0	0	0	1	0	0	0	3024	739	26	2	807	2	CD300LF	17	72700910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1672	72700910	8494300	17022	24734											
RAB37	326624	broad.mit.edu	37	chr17	72733174	72733174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcatgtccgaagcgcacgGagccgagccggtgttgctca	14	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72733174G>A	ENST00000392614.4	+	1	119	c.26G>A	c.(25-27)gGa>gAa	p.G9E	RAB37_ENST00000340415.3_Intron|RAB37_ENST00000528438.1_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392615.5_Missense_Mutation_p.G9E	NM_001163989.1	NP_001157461.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GAAGCGCACGGAGCCGAGCCG	0.721													False	0	True	17:72733174	0	A	72733174	G	A	72733174	3	1	88	1	0	0	0	0	1	0	0	0	13006	1174	41	2	219	2	RAB37	17	72733174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32264	72733174	8462036	17023	24735											
SLC9A3R1	9368	broad.mit.edu	37	chr17	72763082	72763082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctttgcctaggtcccctGcctgtgcccttcaccaatgg	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72763082G>A	ENST00000262613.5	+	4	960	c.765G>A	c.(763-765)ctG>ctA	p.L255L	SLC9A3R1_ENST00000413388.2_Silent_p.L99L	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	255					apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association			large_intestine(4)	4						TAGGTCCCCTGCCTGTGCCCT	0.537													False	0	True	17:72763082	0	A	72763082	G	A	72763082	2	1	88	1	0	0	0	0	0	0	0	1	14794	1306	46	2		2	SLC9A3R1	17	72763082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29908	72763082	8432128	17024	24736											
SLC9A3R1	9368	broad.mit.edu	37	chr17	72764365	72764365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatccgcctccagtgacaCcagcgaggaggtaggccagc	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72764365C>T	ENST00000262613.5	+	5	1073	c.878C>T	c.(877-879)aCc>aTc	p.T293I	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.T137I	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	293					apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association			large_intestine(4)	4						TCCAGTGACACCAGCGAGGAG	0.642													False	0	False	17:72764365	0	T	72764365	C	T	72764365	3	4	88	1	0	0	0	0	1	0	0	0	14794	507	18	2	896	2	SLC9A3R1	17	72764365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1283	72764365	8430845	17025	24737											
GRIN2C	2905	broad.mit.edu	37	chr17	72838586	72838586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgataactcacacttctgaCtccagactggagatccgtct	7	13	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72838586C>T	ENST00000293190.5	-	13	3836	c.3690G>A	c.(3688-3690)gaG>gaA	p.E1230E		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	1230					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACACTTCTGACTCCAGACTGG	0.607													False	0	False	17:72838586	0	T	72838586	C	T	72838586	2	4	88	1	0	0	0	0	0	0	0	1	6828	564	20	2		2	GRIN2C	17	72838586	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74221	72838586	8356624	17026	24738											
GRIN2C	2905	broad.mit.edu	37	chr17	72842218	72842218	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacccaccgtcccccaggaaCtgcaagagcgccaggtctat	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72842218C>A	ENST00000293190.5	-	11	2483	c.2337G>T	c.(2335-2337)caG>caT	p.Q779H	GRIN2C_ENST00000347612.4_Missense_Mutation_p.Q779H	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	779					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCCCCAGGAACTGCAAGAGCG	0.602													False	0	False	17:72842218	0	A	72842218	C	A	72842218	3	1	88	1	0	0	0	0	1	0	0	0	6828	564	20	3	1376	3	GRIN2C	17	72842218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3632	72842218	8352992	17027	24739											
GRIN2C	2905	broad.mit.edu	37	chr17	72843044	72843044	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcggaaaggtgggtactgatCttgaggccgctgaaactgca	15	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72843044C>A	ENST00000293190.5	-	10	2163	c.2017G>T	c.(2017-2019)Gat>Tat	p.D673Y	GRIN2C_ENST00000347612.4_Missense_Mutation_p.D673Y	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	673					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGGTACTGATCTTGAGGCCGC	0.617													False	0	False	17:72843044	0	A	72843044	C	A	72843044	3	1	88	1	0	0	0	0	1	0	0	0	6828	913	32	3	1700	3	GRIN2C	17	72843044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	826	72843044	8352166	17028	24740											
GRIN2C	2905	broad.mit.edu	37	chr17	72843650	72843650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagccacacggacttgcCgatagtgaaagctgggcccc	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72843650C>T	ENST00000293190.5	-	9	1944	c.1798G>A	c.(1798-1800)Ggc>Agc	p.G600S	GRIN2C_ENST00000347612.4_Missense_Mutation_p.G600S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	600					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACGGACTTGCCGATAGTGAAA	0.652													False	0	False	17:72843650	0	T	72843650	C	T	72843650	3	4	88	1	0	0	0	0	1	0	0	0	6828	652	23	1	1923	1	GRIN2C	17	72843650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	606	72843650	8351560	17029	24741											
GRIN2C	2905	broad.mit.edu	37	chr17	72848164	72848164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccacctgtagaaggccTcccgggcagggctgacgggc	16	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72848164T>C	ENST00000293190.5	-	3	1132	c.986A>G	c.(985-987)gAg>gGg	p.E329G	GRIN2C_ENST00000347612.4_Missense_Mutation_p.E329G	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	329					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GTAGAAGGCCTCCCGGGCAGG	0.721													False	0	True	17:72848164	0	C	72848164	T	C	72848164	3	2	88	1	0	0	0	0	1	0	0	0	6828	1551	54	4	2759	4	GRIN2C	17	72848164	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4514	72848164	8347046	17030	24742											
FDXR	2232	broad.mit.edu	37	chr17	72862343	72862343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccaggaatttccagggcCcgatggtcctctgccccgta	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72862343C>T	ENST00000455107.2	-	6	701	c.285G>A	c.(283-285)cgG>cgA	p.R95R	FDXR_ENST00000582944.1_Silent_p.R131R|FDXR_ENST00000413947.2_Silent_p.R170R|FDXR_ENST00000544854.1_Silent_p.R87R|FDXR_ENST00000442102.2_Silent_p.R182R|FDXR_ENST00000293195.5_Silent_p.R139R|FDXR_ENST00000581530.1_Silent_p.R139R|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000420580.2_Silent_p.R99R|FDXR_ENST00000583917.1_Silent_p.R140R			P22570	ADRO_HUMAN	ferredoxin reductase	139					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TTTCCAGGGCCCGATGGTCCT	0.647													False	0	True	17:72862343	0	T	72862343	C	T	72862343	2	4	88	1	0	0	0	0	0	0	0	1	5847	610	22	2		2	FDXR	17	72862343	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14179	72862343	8332867	17031	24743											
FDXR	2232	broad.mit.edu	37	chr17	72863044	72863044	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggggtcgagagagagaggCtgggacgcccccaggtcctc	18	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72863044C>A	ENST00000442102.2	-	3	347	c.261G>T	c.(259-261)caG>caT	p.Q87H	FDXR_ENST00000582944.1_Intron|FDXR_ENST00000413947.2_Intron|FDXR_ENST00000455107.2_Intron|FDXR_ENST00000544854.1_Intron|FDXR_ENST00000293195.5_Intron|FDXR_ENST00000581530.1_Intron|FDXR_ENST00000581969.1_Intron|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000583917.1_Intron	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	59					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GAGAGAGAGGCTGGGACGCCC	0.632													False	0	False	17:72863044	0	A	72863044	C	A	72863044	3	1	88	1	0	0	0	0	1	0	0	0	5847	812	28	3		3	FDXR	17	72863044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	701	72863044	8332166	17032	24744											
USH1G	124590	broad.mit.edu	37	chr17	72916088	72916088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtggcacgggagacgctGtcctcgtccgagaggaacat	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72916088G>A	ENST00000319642.1	-	2	1025	c.843C>T	c.(841-843)gaC>gaT	p.D281D		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	281					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGAGACGCTGTCCTCGTCCG	0.697													False	0	False	17:72916088	0	A	72916088	G	A	72916088	2	1	88	1	0	0	0	0	0	0	0	1	17119	1368	48	2		2	USH1G	17	72916088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53044	72916088	8279122	17033	24745											
OTOP2	92736	broad.mit.edu	37	chr17	72923852	72923852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatcccactcctacagcaGttctcacagcaacgccagcc	5	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72923852G>A	ENST00000331427.4	+	5	694	c.602G>A	c.(601-603)aGt>aAt	p.S201N	OTOP2_ENST00000580223.1_Missense_Mutation_p.S201N	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	201						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TCCTACAGCAGTTCTCACAGC	0.582													False	0	False	17:72923852	0	A	72923852	G	A	72923852	3	1	88	1	0	0	0	0	1	0	0	0	11374	1029	36	2	616	2	OTOP2	17	72923852	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7764	72923852	8271358	17034	24746											
OTOP3	347741	broad.mit.edu	37	chr17	72937646	72937646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatttctctctgctgctgCggcgggaccggcaggcccag	15	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72937646C>T	ENST00000328801.4	+	2	232	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	78						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TCTGCTGCTGCGGCGGGACCG	0.652													False	0	True	17:72937646	0	T	72937646	C	T	72937646	3	4	88	1	0	0	0	0	1	0	0	0	11375	759	27	1	238	1	OTOP3	17	72937646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13794	72937646	8257564	17035	24747											
SLC16A5	9121	broad.mit.edu	37	chr17	73096797	73096797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccatgagtggcatcggcGccctcatcttccaggttctc	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73096797G>A	ENST00000450736.2	+	4	1454	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	SLC16A5_ENST00000329783.4_Missense_Mutation_p.A347T|SLC16A5_ENST00000538213.2_Missense_Mutation_p.A387T|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A347T			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	347					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TGGCATCGGCGCCCTCATCTT	0.592													False	0	True	17:73096797	0	A	73096797	G	A	73096797	3	1	88	1	0	0	0	0	1	0	0	0	14492	1087	38	1	1049	1	SLC16A5	17	73096797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159151	73096797	8098413	17036	24748											
NT5C	30833	broad.mit.edu	37	chr17	73126651	73126651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcactccaggagagcaGccgtctccttgtcgggggca	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73126651G>A	ENST00000582170.1	-	5	569	c.533C>T	c.(532-534)gCt>gTt	p.A178V	NT5C_ENST00000582160.1_Silent_p.L94L|NT5C_ENST00000245552.2_Silent_p.L180L			Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	0					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CAGGAGAGCAGCCGTCTCCTT	0.617											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:73126651	0	A	73126651	G	A	73126651	3	1	88	1	0	0	0	0	1	0	0	0	10752	962	34	2	71	2	NT5C	17	73126651	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29854	73126651	8068559	17037	24749											
NUP85	79902	broad.mit.edu	37	chr17	73221213	73221213	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaggtgaccatcttggtgCtgcagggccggctggatgag	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73221213C>A	ENST00000447371.2	+	7	533	c.109C>A	c.(109-111)Ctg>Atg	p.L37M	NUP85_ENST00000579324.1_Missense_Mutation_p.L93M|NUP85_ENST00000245544.4_Missense_Mutation_p.L205M|NUP85_ENST00000579298.1_Intron|NUP85_ENST00000541827.1_Missense_Mutation_p.L159M|NUP85_ENST00000449421.2_3'UTR			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	205					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CATCTTGGTGCTGCAGGGCCG	0.652													False	0	False	17:73221213	0	A	73221213	C	A	73221213	3	1	88	1	0	0	0	0	1	0	0	0	10838	796	28	3	643	3	NUP85	17	73221213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94562	73221213	7973997	17038	24750											
NUP85	79902	broad.mit.edu	37	chr17	73231271	73231271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtcaagaagacctgtgcatgGagaatctgataccgagcagc	12	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73231271G>T	ENST00000245544.4	+	18	1915	c.1844G>T	c.(1843-1845)gGa>gTa	p.G615V	NUP85_ENST00000540768.1_Missense_Mutation_p.G218V|NUP85_ENST00000579324.1_Missense_Mutation_p.G503V|NUP85_ENST00000579298.1_Missense_Mutation_p.G570V|NUP85_ENST00000541827.1_Missense_Mutation_p.G569V|NUP85_ENST00000447371.2_3'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	615					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CCTGTGCATGGAGAATCTGAT	0.507													False	0	False	17:73231271	0	T	73231271	G	T	73231271	3	4	88	1	0	0	0	0	1	0	0	0	10838	1174	41	3	1914	3	NUP85	17	73231271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10058	73231271	7963939	17039	24751											
GGA3	23163	broad.mit.edu	37	chr17	73234437	73234437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagctgctcccccagggCgaaggtcagcttataccgaa	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73234437C>T	ENST00000245541.6	-	17	2311	c.2095G>A	c.(2095-2097)Gcc>Acc	p.A699T	GGA3_ENST00000351904.7_Missense_Mutation_p.A666T|GGA3_ENST00000582486.1_Intron|GGA3_ENST00000538886.1_Missense_Mutation_p.A577T|GGA3_ENST00000582717.1_Missense_Mutation_p.A627T|GGA3_ENST00000578348.1_Intron	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	699	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TCCCCCAGGGCGAAGGTCAGC	0.627											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	17:73234437	0	T	73234437	C	T	73234437	3	4	88	1	0	0	0	0	1	0	0	0	6399	768	27	1	168	1	GGA3	17	73234437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3166	73234437	7960773	17040	24752											
GGA3	23163	broad.mit.edu	37	chr17	73239206	73239206	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtggagaggggatcaGcgtcctatccacaggaattg	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73239206G>T	ENST00000245541.6	-	6	682	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	GGA3_ENST00000351904.7_Missense_Mutation_p.L123M|GGA3_ENST00000582486.1_Missense_Mutation_p.L84M|GGA3_ENST00000538886.1_Missense_Mutation_p.L34M|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000582717.1_Missense_Mutation_p.L84M|GGA3_ENST00000578348.1_Missense_Mutation_p.L34M	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	156	Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GAGGGGATCAGCGTCCTATCC	0.547													False	0	False	17:73239206	0	T	73239206	G	T	73239206	3	4	88	1	0	0	0	0	1	0	0	0	6399	962	34	3	1841	3	GGA3	17	73239206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4769	73239206	7956004	17041	24753											
KIAA0195	9772	broad.mit.edu	37	chr17	73492836	73492836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgccacctatggcatccGtaagtgcttcctcttcctgc	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73492836G>A	ENST00000314256.7	+	25	3663	c.3269G>A	c.(3268-3270)cGt>cAt	p.R1090H	KIAA0195_ENST00000375248.5_Missense_Mutation_p.R1100H|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R741H|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1090					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TATGGCATCCGTAAGTGCTTC	0.607													False	0	False	17:73492836	0	A	73492836	G	A	73492836	3	1	88	1	0	0	0	0	1	0	0	0	8210	1145	40	1	3363	1	KIAA0195	17	73492836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253630	73492836	7702374	17042	24754											
KIAA0195	9772	broad.mit.edu	37	chr17	73494356	73494356	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcagagcttctgtgacaGctcccgggaccgcaacctca	10	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73494356G>T	ENST00000314256.7	+	28	3984	c.3590G>T	c.(3589-3591)aGc>aTc	p.S1197I	KIAA0195_ENST00000375248.5_Missense_Mutation_p.S1207I|KIAA0195_ENST00000579208.1_Missense_Mutation_p.S848I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1197					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCTGTGACAGCTCCCGGGAC	0.612													False	0	False	17:73494356	0	T	73494356	G	T	73494356	3	4	88	1	0	0	0	0	1	0	0	0	8210	971	34	3	3696	3	KIAA0195	17	73494356	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1520	73494356	7700854	17043	24755											
KIAA0195	9772	broad.mit.edu	37	chr17	73494598	73494598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctcagaagctcacggccGccctgattgtcctgcacact	10	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73494598G>A	ENST00000314256.7	+	29	4106	c.3712G>A	c.(3712-3714)Gcc>Acc	p.A1238T	KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1248T|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A889T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1238					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCACGGCCGCCCTGATTGT	0.632													False	0	True	17:73494598	0	A	73494598	G	A	73494598	3	1	88	1	0	0	0	0	1	0	0	0	8210	1087	38	1	3822	1	KIAA0195	17	73494598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242	73494598	7700612	17044	24756											
KIAA0195	9772	broad.mit.edu	37	chr17	73495073	73495073	+	Missense_Mutation	SNP	A	A	G													ccacgtccactttggcctggAggacgtgcccctgctgacat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73495073A>G	ENST00000314256.7	+	31	4302	c.3908A>G	c.(3907-3909)gAg>gGg	p.E1303G	KIAA0195_ENST00000375248.5_Missense_Mutation_p.E1313G|KIAA0195_ENST00000579208.1_Missense_Mutation_p.E954G	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1303					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTTGGCCTGGAGGACGTGCCC	0.632													False	0	False	17:73495073	0	G	73495073	A	G	73495073	3	3	88	1	0	0	0	0	1	0	0	0	8210	304	11	4	4026	4	KIAA0195	17	73495073	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	475	73495073	7700137	17045	24757	261	2									
KIAA0195	9772	broad.mit.edu	37	chr17	73495078	73495078	+	Missense_Mutation	SNP	G	G	A													tccactttggcctggaggacGtgcccctgctgacatggctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73495078G>A	ENST00000314256.7	+	31	4307	c.3913G>A	c.(3913-3915)Gtg>Atg	p.V1305M	KIAA0195_ENST00000375248.5_Missense_Mutation_p.V1315M|KIAA0195_ENST00000579208.1_Missense_Mutation_p.V956M	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1305					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGAGGACGTGCCCCTGCT	0.622													False	0	False	17:73495078	0	A	73495078	G	A	73495078	3	1	88	1	0	0	0	0	1	0	0	0	8210	1145	40	1	4031	1	KIAA0195	17	73495078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	73495078	7700132	17046	24758	261	2									
CASKIN2	57513	broad.mit.edu	37	chr17	73497582	73497582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgccaatgctcttctctGcggctctcagtgcagctgcc	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73497582G>A	ENST00000321617.3	-	19	4071	c.3485C>T	c.(3484-3486)gCa>gTa	p.A1162V	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080V	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1162						cytoplasm		p.L1159_A1162del(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCTTCTCTGCGGCTCTCAG	0.657													False	0	False	17:73497582	0	A	73497582	G	A	73497582	3	1	88	1	0	0	0	0	1	0	0	0	2687	1319	46	2	131	2	CASKIN2	17	73497582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2504	73497582	7697628	17047	24759											
CASKIN2	57513	broad.mit.edu	37	chr17	73498457	73498457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgccttcggggccctgTggccccttccttgggccctg	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73498457T>C	ENST00000321617.3	-	18	3284	c.2698A>G	c.(2698-2700)Aca>Gca	p.T900A	CASKIN2_ENST00000433559.2_Missense_Mutation_p.T818A	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	900	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGGGCCCTGTGGCCCCTTCC	0.731													False	0	False	17:73498457	0	C	73498457	T	C	73498457	3	2	88	1	0	0	0	0	1	0	0	0	2687	1696	59	4	922	4	CASKIN2	17	73498457	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	875	73498457	7696753	17048	24760											
CASKIN2	57513	broad.mit.edu	37	chr17	73499216	73499216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctccagtccctcgatggCcatcagctccggacccttgg	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73499216C>T	ENST00000321617.3	-	18	2525	c.1939G>A	c.(1939-1941)Gcc>Acc	p.A647T	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A565T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	647						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTCGATGGCCATCAGCTCC	0.701													False	0	False	17:73499216	0	T	73499216	C	T	73499216	3	4	88	1	0	0	0	0	1	0	0	0	2687	739	26	2	1681	2	CASKIN2	17	73499216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	759	73499216	7695994	17049	24761											
CASKIN2	57513	broad.mit.edu	37	chr17	73500901	73500901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaggatgtacctgggctgTctgggctgaggcccacccga	17	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73500901T>C	ENST00000321617.3	-	11	1770	c.1184A>G	c.(1183-1185)gAc>gGc	p.D395G	CASKIN2_ENST00000433559.2_Missense_Mutation_p.D313G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	395						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCTGGGCTGTCTGGGCTGAG	0.672													False	0	False	17:73500901	0	C	73500901	T	C	73500901	3	2	88	1	0	0	0	0	1	0	0	0	2687	1667	58	4	2464	4	CASKIN2	17	73500901	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1685	73500901	7694309	17050	24762											
TSEN54	283989	broad.mit.edu	37	chr17	73512857	73512857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcgccgcccgctcgcgGtcgcagaagctgccccagcg	12	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73512857G>A	ENST00000333213.6	+	2	123	c.87G>A	c.(85-87)cgG>cgA	p.R29R	TSEN54_ENST00000580013.1_3'UTR	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	29					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCGCTCGCGGTCGCAGAAGC	0.771													False	0	False	17:73512857	0	A	73512857	G	A	73512857	2	1	88	1	0	0	0	0	0	0	0	1	16697	1248	44	2		2	TSEN54	17	73512857	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11956	73512857	7682353	17051	24763											
TSEN54	283989	broad.mit.edu	37	chr17	73517527	73517527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagaggcagcttaacctgGatgccagcgtgcagcacttg	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73517527G>A	ENST00000333213.6	+	7	595	c.559G>A	c.(559-561)Gat>Aat	p.D187N		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	187					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTAACCTGGATGCCAGCGT	0.627													False	0	False	17:73517527	0	A	73517527	G	A	73517527	3	1	88	1	0	0	0	0	1	0	0	0	16697	1174	41	2	585	2	TSEN54	17	73517527	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4670	73517527	7677683	17052	24764											
TSEN54	283989	broad.mit.edu	37	chr17	73518145	73518145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcccggccaacgtggCtgggcgggagacagacgctg	17	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73518145C>T	ENST00000333213.6	+	8	1019	c.983C>T	c.(982-984)gCt>gTt	p.A328V		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	328					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCAACGTGGCTGGGCGGGAG	0.672													False	0	False	17:73518145	0	T	73518145	C	T	73518145	3	4	88	1	0	0	0	0	1	0	0	0	16697	797	28	2	1013	2	TSEN54	17	73518145	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	618	73518145	7677065	17053	24765											
LLGL2	3993	broad.mit.edu	37	chr17	73560573	73560573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcactgtcctcacagagGcagaccctgcagccagtagg	11	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73560573G>A	ENST00000392550.3	+	10	1138	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	LLGL2_ENST00000578363.1_Missense_Mutation_p.A341T|LLGL2_ENST00000375227.4_Missense_Mutation_p.A341T|LLGL2_ENST00000167462.5_Missense_Mutation_p.A341T|LLGL2_ENST00000577200.1_Missense_Mutation_p.A341T	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	341					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTCACAGAGGCAGACCCTGC	0.622													False	0	False	17:73560573	0	A	73560573	G	A	73560573	3	1	88	1	0	0	0	0	1	0	0	0	8887	1203	42	2	1055	2	LLGL2	17	73560573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42428	73560573	7634637	17054	24766											
LLGL2	3993	broad.mit.edu	37	chr17	73566151	73566151	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctggaaggggcacgagcgCctggcagcccgctcagggcc	17	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73566151C>A	ENST00000392550.3	+	15	1806	c.1689C>A	c.(1687-1689)cgC>cgA	p.R563R	LLGL2_ENST00000167462.5_Silent_p.R563R|LLGL2_ENST00000577200.1_Silent_p.R563R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	563					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCACGAGCGCCTGGCAGCCC	0.667													False	0	False	17:73566151	0	A	73566151	C	A	73566151	2	1	88	1	0	0	0	0	0	0	0	1	8887	726	26	3		3	LLGL2	17	73566151	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5578	73566151	7629059	17055	24767											
LLGL2	3993	broad.mit.edu	37	chr17	73566533	73566533	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attccgccggatgcgtcggaGccgggtgtccagccggaagc	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73566533G>T	ENST00000392550.3	+	16	2096	c.1979G>T	c.(1978-1980)aGc>aTc	p.S660I	LLGL2_ENST00000167462.5_Missense_Mutation_p.S660I|LLGL2_ENST00000577200.1_Missense_Mutation_p.S660I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	660					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATGCGTCGGAGCCGGGTGTCC	0.692													False	0	False	17:73566533	0	T	73566533	G	T	73566533	3	4	88	1	0	0	0	0	1	0	0	0	8887	971	34	3	2072	3	LLGL2	17	73566533	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	382	73566533	7628677	17056	24768											
ITGB4	3691	broad.mit.edu	37	chr17	73723936	73723936	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagatggggcagaacctgGgtacggcagggccagagtgg	19	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73723936G>A	ENST00000200181.3	+	5	656	c.469G>A	c.(469-471)Gct>Act	p.A157T	ITGB4_ENST00000450894.3_Splice_Site_p.A157T|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Splice_Site_p.A157T|ITGB4_ENST00000579662.1_Splice_Site_p.A157T|ITGB4_ENST00000449880.2_Splice_Site_p.A157T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	157	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGAACCTGGGTACGGCAGG	0.617													False	0	True	17:73723936	0	A	73723936	G	A	73723936	5	1	88	1	0	0	0	0	0	0	1	0	7947	1246	43	2	483	2	ITGB4	17	73723936	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157403	73723936	7471274	17057	24769											
ITGB4	3691	broad.mit.edu	37	chr17	73726545	73726545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccaagcacaacatcatccCcatctttgctgtcaccaact	4	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73726545C>A	ENST00000200181.3	+	8	1149	c.962C>A	c.(961-963)cCc>cAc	p.P321H	ITGB4_ENST00000450894.3_Missense_Mutation_p.P321H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.P321H|ITGB4_ENST00000579662.1_Missense_Mutation_p.P321H|ITGB4_ENST00000449880.2_Missense_Mutation_p.P321H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	321	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AACATCATCCCCATCTTTGCT	0.617													False	0	True	17:73726545	0	A	73726545	C	A	73726545	3	1	88	1	0	0	0	0	1	0	0	0	7947	623	22	3	988	3	ITGB4	17	73726545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2609	73726545	7468665	17058	24770											
ITGB4	3691	broad.mit.edu	37	chr17	73727036	73727036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgtggagctgctggaggaGgccttcaatgtgagggcagc	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73727036G>T	ENST00000200181.3	+	9	1270	c.1083G>T	c.(1081-1083)gaG>gaT	p.E361D	ITGB4_ENST00000450894.3_Missense_Mutation_p.E361D|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.E361D|ITGB4_ENST00000579662.1_Missense_Mutation_p.E361D|ITGB4_ENST00000449880.2_Missense_Mutation_p.E361D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	361					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCTGGAGGAGGCCTTCAATG	0.617													False	0	False	17:73727036	0	T	73727036	G	T	73727036	3	4	88	1	0	0	0	0	1	0	0	0	7947	991	35	3	1113	3	ITGB4	17	73727036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491	73727036	7468174	17059	24771											
ITGB4	3691	broad.mit.edu	37	chr17	73745092	73745092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggggcccacctgggccaGccccactccaccaccatcat	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73745092G>T	ENST00000200181.3	+	27	3469	c.3282G>T	c.(3280-3282)caG>caT	p.Q1094H	ITGB4_ENST00000450894.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000339591.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000579662.1_Missense_Mutation_p.Q1094H|ITGB4_ENST00000449880.2_Missense_Mutation_p.Q1094H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1094					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCTGGGCCAGCCCCACTCCA	0.637													False	0	True	17:73745092	0	T	73745092	G	T	73745092	3	4	88	1	0	0	0	0	1	0	0	0	7947	962	34	3	3384	3	ITGB4	17	73745092	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18056	73745092	7450118	17060	24772											
ITGB4	3691	broad.mit.edu	37	chr17	73752585	73752585	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agacctcctgcccaaccactCctacgtgttccgcgtgcggg	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73752585C>A	ENST00000200181.3	+	36	4971	c.4784C>A	c.(4783-4785)tCc>tAc	p.S1595Y	ITGB4_ENST00000450894.3_Missense_Mutation_p.S1525Y|ITGB4_ENST00000339591.3_Missense_Mutation_p.S1578Y|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Missense_Mutation_p.S1525Y|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1578Y	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1595	Fibronectin type-III 3.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCAACCACTCCTACGTGTTC	0.657													False	0	False	17:73752585	0	A	73752585	C	A	73752585	3	1	88	1	0	0	0	0	1	0	0	0	7947	855	30	3	5085	3	ITGB4	17	73752585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7493	73752585	7442625	17061	24773											
UNC13D	201294	broad.mit.edu	37	chr17	73831747	73831747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctctgaggagctcatgcGcagctggcagagctccttga	12	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73831747G>A	ENST00000207549.4	-	19	2087	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	UNC13D_ENST00000412096.2_Missense_Mutation_p.R570C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	570	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCTCATGCGCAGCTGGCAG	0.647									Familial Hemophagocytic Lymphohistiocytosis				False	0	False	17:73831747	0	A	73831747	G	A	73831747	3	1	88	1	0	0	0	0	1	0	0	0	17071	1087	38	1	1620	1	UNC13D	17	73831747	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79162	73831747	7363463	17062	24774											
WBP2	23558	broad.mit.edu	37	chr17	73844721	73844721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgaaagtcaacttgtaGgaagcagagccttcccagcc	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73844721G>A	ENST00000591399.1	-	5	751	c.327C>T	c.(325-327)tcC>tcT	p.S109S	WBP2_ENST00000433525.2_Silent_p.S109S|WBP2_ENST00000344296.4_Silent_p.S87S|WBP2_ENST00000585462.1_Silent_p.S87S|WBP2_ENST00000590221.1_Silent_p.S109S|WBP2_ENST00000254806.3_Silent_p.S109S			Q969T9	WBP2_HUMAN	WW domain binding protein 2	109							protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCAACTTGTAGGAAGCAGAGC	0.517											OREG0024743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:73844721	0	A	73844721	G	A	73844721	2	1	88	1	0	0	0	0	0	0	0	1	17343	987	35	2		2	WBP2	17	73844721	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12974	73844721	7350489	17063	24775											
TRIM47	91107	broad.mit.edu	37	chr17	73871062	73871062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggtccagggcaccctcGcccagcacctgctcacaatg	9	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73871062G>A	ENST00000254816.2	-	6	1445	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	TRIM47_ENST00000587339.1_Silent_p.G235G	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	473	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCACCCTCGCCCAGCACCT	0.597													False	0	True	17:73871062	0	A	73871062	G	A	73871062	2	1	88	1	0	0	0	0	0	0	0	1	16605	1074	38	1		1	TRIM47	17	73871062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26341	73871062	7324148	17064	24776											
TRIM65	201292	broad.mit.edu	37	chr17	73888881	73888881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctagtagctggccttcGgcctgggtggcctgctgctg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73888881G>A	ENST00000269383.3	-	2	530	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	155						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGCCTTCGGCCTGGGTGG	0.657													False	0	False	17:73888881	0	A	73888881	G	A	73888881	2	1	88	1	0	0	0	0	0	0	0	1	16622	1103	39	1		1	TRIM65	17	73888881	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17819	73888881	7306329	17065	24777											
MRPL38	64978	broad.mit.edu	37	chr17	73895245	73895245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatggcccttacccagaaGctggtggaagatgtaggtga	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73895245G>A	ENST00000309352.3	-	8	1537	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Missense_Mutation_p.L150F	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	334						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTACCCAGAAGCTGGTGGAAG	0.592													False	0	False	17:73895245	0	A	73895245	G	A	73895245	3	1	88	1	0	0	0	0	1	0	0	0	9868	971	34	2	150	2	MRPL38	17	73895245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6364	73895245	7299965	17066	24778											
MRPL38	64978	broad.mit.edu	37	chr17	73897891	73897891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcggggcacaaaggtggCaccgtggaacaggtctcggt	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73897891C>T	ENST00000309352.3	-	4	1030	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	165						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACAAAGGTGGCACCGTGGAAC	0.627													False	0	False	17:73897891	0	T	73897891	C	T	73897891	3	4	88	1	0	0	0	0	1	0	0	0	9868	710	25	2	673	2	MRPL38	17	73897891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2646	73897891	7297319	17067	24779											
FBF1	85302	broad.mit.edu	37	chr17	73915865	73915865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcggcctcctggcactgCgacagataccgagctgacag	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73915865C>T	ENST00000586717.1	-	19	2253	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	FBF1_ENST00000389570.4_Silent_p.S660S|FBF1_ENST00000319129.5_Silent_p.S659S			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	659										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CCTGGCACTGCGACAGATACC	0.627													False	0	False	17:73915865	0	T	73915865	C	T	73915865	2	4	88	1	0	0	0	0	0	0	0	1	5735	755	27	1		1	FBF1	17	73915865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17974	73915865	7279345	17068	24780											
EVPL	2125	broad.mit.edu	37	chr17	74003558	74003558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagagcctcttcttggtgaCggggtcctcgatgccggtga	15	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74003558C>T	ENST00000301607.3	-	22	5981	c.5728G>A	c.(5728-5730)Gtc>Atc	p.V1910I	EVPL_ENST00000586740.1_Missense_Mutation_p.V1932I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1910	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTCTTGGTGACGGGGTCCTCG	0.652													False	0	True	17:74003558	0	T	74003558	C	T	74003558	3	4	88	1	0	0	0	0	1	0	0	0	5324	536	19	1	377	1	EVPL	17	74003558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87693	74003558	7191652	17069	24781											
EVPL	2125	broad.mit.edu	37	chr17	74003780	74003780	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgatgctgcacttgttgtCtgtggttgtgtcatagatcc	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74003780C>T	ENST00000301607.3	-	22	5759	c.5506G>A	c.(5506-5508)Gac>Aac	p.D1836N	EVPL_ENST00000586740.1_Missense_Mutation_p.D1858N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1836	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CACTTGTTGTCTGTGGTTGTG	0.612													False	0	False	17:74003780	0	T	74003780	C	T	74003780	3	4	88	1	0	0	0	0	1	0	0	0	5324	913	32	2	599	2	EVPL	17	74003780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222	74003780	7191430	17070	24782											
EVPL	2125	broad.mit.edu	37	chr17	74005791	74005791	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccctggccagcgtcgcgttCttggtcctctcctcctcgag	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74005791C>A	ENST00000301607.3	-	22	3748	c.3495G>T	c.(3493-3495)aaG>aaT	p.K1165N	EVPL_ENST00000586740.1_Missense_Mutation_p.K1187N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1165	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGTCGCGTTCTTGGTCCTCT	0.632													False	0	False	17:74005791	0	A	74005791	C	A	74005791	3	1	88	1	0	0	0	0	1	0	0	0	5324	912	32	3	2610	3	EVPL	17	74005791	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2011	74005791	7189419	17071	24783											
EVPL	2125	broad.mit.edu	37	chr17	74013961	74013961	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcaggagcttctgggcCtgtgggttggccaggtctga	17	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74013961C>A	ENST00000301607.3	-	14	1822	c.1569G>T	c.(1567-1569)caG>caT	p.Q523H	EVPL_ENST00000586740.1_Missense_Mutation_p.Q545H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	523	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTTCTGGGCCTGTGGGTTGG	0.677													False	0	False	17:74013961	0	A	74013961	C	A	74013961	3	1	88	1	0	0	0	0	1	0	0	0	5324	680	24	3	4568	3	EVPL	17	74013961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8170	74013961	7181249	17072	24784											
EVPL	2125	broad.mit.edu	37	chr17	74017770	74017770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctggatgggccccacCgcggggtgccgcagctccac	14	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74017770C>T	ENST00000301607.3	-	8	1153	c.900G>A	c.(898-900)gcG>gcA	p.A300A	EVPL_ENST00000586740.1_Silent_p.A300A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	300	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGCCCCACCGCGGGGTGCC	0.726													False	0	False	17:74017770	0	T	74017770	C	T	74017770	2	4	88	1	0	0	0	0	0	0	0	1	5324	639	23	1		1	EVPL	17	74017770	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3809	74017770	7177440	17073	24785											
EVPL	2125	broad.mit.edu	37	chr17	74017962	74017962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgacctcgtactcccgccGcacgcccgcagggtcggcca	12	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74017962G>A	ENST00000301607.3	-	7	1046	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	EVPL_ENST00000586740.1_Missense_Mutation_p.R265W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	265	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TACTCCCGCCGCACGCCCGCA	0.756													False	0	False	17:74017962	0	A	74017962	G	A	74017962	3	1	88	1	0	0	0	0	1	0	0	0	5324	1086	38	1	5372	1	EVPL	17	74017962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192	74017962	7177248	17074	24786											
SRP68	6730	broad.mit.edu	37	chr17	74056448	74056448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaatctcatctgcatgaGttcattgatggctgactggt	9	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74056448G>A	ENST00000307877.2	-	7	939	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F	SRP68_ENST00000355113.5_Missense_Mutation_p.L159F|SRP68_ENST00000539137.1_Missense_Mutation_p.L222F	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	260					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ATCTGCATGAGTTCATTGATG	0.418													False	0	False	17:74056448	0	A	74056448	G	A	74056448	3	1	88	1	0	0	0	0	1	0	0	0	15238	1029	36	2	1145	2	SRP68	17	74056448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38486	74056448	7138762	17075	24787											
SRP68	6730	broad.mit.edu	37	chr17	74057202	74057202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctctcaccaatattatatGcacaatagcggatgttgggt	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74057202G>T	ENST00000307877.2	-	6	904	c.743C>A	c.(742-744)gCa>gAa	p.A248E	SRP68_ENST00000355113.5_Missense_Mutation_p.A147E|SRP68_ENST00000539137.1_Missense_Mutation_p.A210E	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	248					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						AATATTATATGCACAATAGCG	0.443													False	0	False	17:74057202	0	T	74057202	G	T	74057202	3	4	88	1	0	0	0	0	1	0	0	0	15238	1319	46	3	1184	3	SRP68	17	74057202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	754	74057202	7138008	17076	24788											
SRP68	6730	broad.mit.edu	37	chr17	74060107	74060107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgattgctctcacacaagcGttccaattcctctgcatgct	7	14	2	0	rs144739272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74060107G>A	ENST00000307877.2	-	4	672	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	SRP68_ENST00000355113.5_Missense_Mutation_p.R70C|SRP68_ENST00000539137.1_Missense_Mutation_p.R133C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	171					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCACACAAGCGTTCCAATTCC	0.468													False	0	False	17:74060107	0	A	74060107	G	A	74060107	3	1	88	1	0	0	0	0	1	0	0	0	15238	1145	40	1	1424	1	SRP68	17	74060107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2905	74060107	7135103	17077	24789											
SRP68	6730	broad.mit.edu	37	chr17	74060140	74060140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgcttcacggctttgcGtaggcgagataacaagtgaa	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74060140G>A	ENST00000307877.2	-	4	639	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	SRP68_ENST00000355113.5_Missense_Mutation_p.R59C|SRP68_ENST00000539137.1_Missense_Mutation_p.R122C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	160					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ACGGCTTTGCGTAGGCGAGAT	0.502													False	0	False	17:74060140	0	A	74060140	G	A	74060140	3	1	88	1	0	0	0	0	1	0	0	0	15238	1145	40	1	1457	1	SRP68	17	74060140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	74060140	7135070	17078	24790											
GALR2	8811	broad.mit.edu	37	chr17	74073063	74073063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggtgacacgcatgatcCtcatcgtggccgcgctcttc	11	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74073063C>A	ENST00000329003.3	+	2	805	c.715C>A	c.(715-717)Ctc>Atc	p.L239I		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	239					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACGCATGATCCTCATCGTGGC	0.701													False	0	False	17:74073063	0	A	74073063	C	A	74073063	3	1	88	1	0	0	0	0	1	0	0	0	6271	681	24	3	721	3	GALR2	17	74073063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12923	74073063	7122147	17079	24791											
EXOC7	23265	broad.mit.edu	37	chr17	74090663	74090663	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtagtagacgttcatgaaatCtgaggagacacagagggata	13	5	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74090663C>T	ENST00000607838.1	-	6	735		c.e6-1		EXOC7_ENST00000332065.5_Splice_Site|EXOC7_ENST00000589210.1_Splice_Site|EXOC7_ENST00000405575.4_Splice_Site|EXOC7_ENST00000467929.2_Splice_Site|EXOC7_ENST00000411744.2_Splice_Site|EXOC7_ENST00000335146.7_Splice_Site	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7						exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCATGAAATCTGAGGAGACA	0.527													False	0	False	17:74090663	0	T	74090663	C	T	74090663	5	4	88	1	0	0	0	0	0	0	1	0	5342	927	32	2	1627	2	EXOC7	17	74090663	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17600	74090663	7104547	17080	24792											
FOXJ1	2302	broad.mit.edu	37	chr17	74133831	74133831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggggtgggcagcagggtgCtggggggccgcgggaccttg	23	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74133831C>A	ENST00000322957.6	-	3	1223	c.869G>T	c.(868-870)aGc>aTc	p.S290I		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	290					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CAGCAGGGTGCTGGGGGGCCG	0.716													False	0	False	17:74133831	0	A	74133831	C	A	74133831	3	1	88	1	0	0	0	0	1	0	0	0	6053	797	28	3	400	3	FOXJ1	17	74133831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43168	74133831	7061379	17081	24793											
RNF157	114804	broad.mit.edu	37	chr17	74154560	74154560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcctcttcatgcagcaCggaagagttttgggaagtgg	12	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74154560C>T	ENST00000269391.6	-	13	1459	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M	RNF157_ENST00000319945.6_Missense_Mutation_p.V443M	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	443	Ser-rich.						zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TCATGCAGCACGGAAGAGTTT	0.502													False	0	False	17:74154560	0	T	74154560	C	T	74154560	3	4	88	1	0	0	0	0	1	0	0	0	13533	536	19	1	740	1	RNF157	17	74154560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20729	74154560	7040650	17082	24794											
RNF157	114804	broad.mit.edu	37	chr17	74169839	74169839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttctcagagtcttcacGggttcttggggaggtggggc	17	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74169839G>A	ENST00000269391.6	-	3	372	c.240C>T	c.(238-240)ccC>ccT	p.P80P	RNF157_ENST00000319945.6_Silent_p.P80P	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	80			P -> H (in dbSNP:rs2289602).				zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GAGTCTTCACGGGTTCTTGGG	0.537													False	0	True	17:74169839	0	A	74169839	G	A	74169839	2	1	88	1	0	0	0	0	0	0	0	1	13533	1103	39	1		1	RNF157	17	74169839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15279	74169839	7025371	17083	24795											
RNF157	114804	broad.mit.edu	37	chr17	74169858	74169858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttcttggggaggtgggGcggcgtaaggaaactgtgtc	20	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74169858G>A	ENST00000269391.6	-	3	353	c.221C>T	c.(220-222)gCc>gTc	p.A74V	RNF157_ENST00000319945.6_Missense_Mutation_p.A74V	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	74							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGAGGTGGGGCGGCGTAAGG	0.527													False	0	True	17:74169858	0	A	74169858	G	A	74169858	3	1	88	1	0	0	0	0	1	0	0	0	13533	1203	42	2	1886	2	RNF157	17	74169858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	74169858	7025352	17084	24796											
QRICH2	84074	broad.mit.edu	37	chr17	74289427	74289427	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaaaccagaccatgttggtCtgtgctaggtagttccaatc	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74289427C>T	ENST00000262765.5	-	4	1062	c.883G>A	c.(883-885)Gac>Aac	p.D295N		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	295							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCATGTTGGTCTGTGCTAGGT	0.498													False	0	False	17:74289427	0	T	74289427	C	T	74289427	3	4	88	1	0	0	0	0	1	0	0	0	12959	913	32	2	4172	2	QRICH2	17	74289427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119569	74289427	6905783	17085	24797											
QRICH2	84074	broad.mit.edu	37	chr17	74289861	74289861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttcatcacgggccctcGgctgctgctgtctcccagta	10	16	3	0	rs141784144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74289861G>A	ENST00000262765.5	-	4	628	c.449C>T	c.(448-450)cCg>cTg	p.P150L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	150							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACGGGCCCTCGGCTGCTGCTG	0.552													False	0	True	17:74289861	0	A	74289861	G	A	74289861	3	1	88	1	0	0	0	0	1	0	0	0	12959	1116	39	1	4606	1	QRICH2	17	74289861	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	434	74289861	6905349	17086	24798											
PRPSAP1	5635	broad.mit.edu	37	chr17	74308979	74308979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaggactcctcaatcaggCgaggggcctctgcagacagg	15	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74308979C>T	ENST00000446526.3	-	9	1416	c.971G>A	c.(970-972)cGc>cAc	p.R324H	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R221H|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	295					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CTCAATCAGGCGAGGGGCCTC	0.498													False	0	False	17:74308979	0	T	74308979	C	T	74308979	3	4	88	1	0	0	0	0	1	0	0	0	12657	768	27	1	194	1	PRPSAP1	17	74308979	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19118	74308979	6886231	17087	24799											
PRPSAP1	5635	broad.mit.edu	37	chr17	74324894	74324894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccgtgcactgagcttcccCgtgaatgacggccaaaccca	9	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74324894C>A	ENST00000446526.3	-	7	1130	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.G126W	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	200					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TGAGCTTCCCCGTGAATGACG	0.547													False	0	True	17:74324894	0	A	74324894	C	A	74324894	3	1	88	1	0	0	0	0	1	0	0	0	12657	652	23	3	488	3	PRPSAP1	17	74324894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15915	74324894	6870316	17088	24800											
SPHK1	8877	broad.mit.edu	37	chr17	74383248	74383248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccactggaggagccagtgCcctctcactggacagtggtg	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74383248C>T	ENST00000545180.1	+	8	1545	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	SPHK1_ENST00000592299.1_Missense_Mutation_p.P246S|SPHK1_ENST00000392496.3_Missense_Mutation_p.P246S|SPHK1_ENST00000590959.1_Missense_Mutation_p.P260S|SPHK1_ENST00000323374.4_Missense_Mutation_p.P332S			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	246					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						GGAGCCAGTGCCCTCTCACTG	0.627													False	0	True	17:74383248	0	T	74383248	C	T	74383248	3	4	88	1	0	0	0	0	1	0	0	0	15128	739	26	2	1058	2	SPHK1	17	74383248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58354	74383248	6811962	17089	24801											
UBE2O	63893	broad.mit.edu	37	chr17	74392554	74392554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtcatgttcttgaggctctCcaggatcttgatggcctctt	10	10	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74392554C>T	ENST00000319380.7	-	14	2528	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	822							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTGAGGCTCTCCAGGATCTTG	0.607													False	0	False	17:74392554	0	T	74392554	C	T	74392554	3	4	88	1	0	0	0	0	1	0	0	0	16952	864	30	2	1434	2	UBE2O	17	74392554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9306	74392554	6802656	17090	24802											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74566667	74566667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcccctttatctaggccCtcagggacaggcacgcccag	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74566667C>A	ENST00000225276.5	-	6	1072	c.753G>T	c.(751-753)gaG>gaT	p.E251D	RP11-666A8.9_ENST00000588104.1_RNA	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	251					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TATCTAGGCCCTCAGGGACAG	0.577													False	0	True	17:74566667	0	A	74566667	C	A	74566667	3	1	88	1	0	0	0	0	1	0	0	0	15306	680	24	3	387	3	ST6GALNAC2	17	74566667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174113	74566667	6628543	17091	24803											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74574856	74574856	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctttcctgtccaagaattCgatgccttggattgaaagaa	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74574856C>T	ENST00000225276.5	-	2	487	c.168G>A	c.(166-168)tcG>tcA	p.S56S	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	56					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TCCAAGAATTCGATGCCTTGG	0.498													False	0	False	17:74574856	0	T	74574856	C	T	74574856	2	4	88	1	0	0	0	0	0	0	0	1	15306	871	31	1		1	ST6GALNAC2	17	74574856	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8189	74574856	6620354	17092	24804											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74621580	74621580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcagaaaagcgctcatgGccctcagtgatgaagccata	10	10	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74621580G>A	ENST00000156626.7	-	9	1834	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	545					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						AGCGCTCATGGCCCTCAGTGA	0.483													False	0	True	17:74621580	0	A	74621580	G	A	74621580	2	1	88	1	0	0	0	0	0	0	0	1	15305	1190	42	2		2	ST6GALNAC1	17	74621580	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46724	74621580	6573630	17093	24805											
MXRA7	439921	broad.mit.edu	37	chr17	74679976	74679976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggacctaaggaacttgCtacagggaagtgaggtcaga	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74679976C>T	ENST00000375036.2	-	4	591	c.534G>A	c.(532-534)taG>taA	p.*178*	MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000355797.3_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000589082.1_Silent_p.*23*|MXRA7_ENST00000592148.1_Intron	NM_001008529.1	NP_001008529.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	0						integral to membrane				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						AAGGAACTTGCTACAGGGAAG	0.488													False	0	False	17:74679976	0	T	74679976	C	T	74679976	2	4	88	1	0	0	0	0	0	0	0	1	10071	808	28	2		2	MXRA7	17	74679976	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58396	74679976	6515234	17094	24806											
MFSD11	79157	broad.mit.edu	37	chr17	74771152	74771152	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgctgttgggcatcctGgtgcacttcatagcttttta	11	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74771152G>T	ENST00000588460.1	+	11	2990	c.948G>T	c.(946-948)ctG>ctT	p.L316L	MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000590514.1_Silent_p.L316L|MFSD11_ENST00000586622.1_Silent_p.L316L|MFSD11_ENST00000355954.3_Silent_p.L264L|MFSD11_ENST00000593181.1_Silent_p.L264L|MFSD11_ENST00000336509.4_Silent_p.L316L	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	316						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGGGCATCCTGGTGCACTTCA	0.453													False	0	False	17:74771152	0	T	74771152	G	T	74771152	2	4	88	1	0	0	0	0	0	0	0	1	9596	1335	47	3		3	MFSD11	17	74771152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91176	74771152	6424058	17095	24807											
MGAT5B	146664	broad.mit.edu	37	chr17	74944060	74944060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcgcacgccctgcgggCctggctggccgtgcctggga	16	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74944060C>T	ENST00000569840.2	+	17	2646	c.2072C>T	c.(2071-2073)gCc>gTc	p.A691V	MGAT5B_ENST00000301618.4_Missense_Mutation_p.A689V|MGAT5B_ENST00000428789.2_Missense_Mutation_p.A700V	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	691						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCTGCGGGCCTGGCTGGCC	0.701													False	0	True	17:74944060	0	T	74944060	C	T	74944060	3	4	88	1	0	0	0	0	1	0	0	0	9616	739	26	2	2229	2	MGAT5B	17	74944060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172908	74944060	6251150	17096	24808											
SEPT9	10801	broad.mit.edu	37	chr17	75478280	75478280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgacacccccagagatgCcgggctcaagcaggcgcctg	14	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:75478280C>T	ENST00000329047.8	+	3	1534	c.722C>T	c.(721-723)gCc>gTc	p.A241V	SEPT9_ENST00000592951.1_Missense_Mutation_p.A8V|SEPT9_ENST00000431235.2_Missense_Mutation_p.A95V|SEPT9_ENST00000449803.2_Missense_Mutation_p.A95V|SEPT9_ENST00000427180.1_Missense_Mutation_p.A147V|SEPT9_ENST00000427177.1_Missense_Mutation_p.A259V|SEPT9_ENST00000590917.1_Missense_Mutation_p.A8V|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000541152.2_Missense_Mutation_p.A8V|SEPT9_ENST00000591088.1_Missense_Mutation_p.A8V|SEPT9_ENST00000423034.2_Missense_Mutation_p.A252V|SEPT9_ENST00000590294.1_Missense_Mutation_p.A241V|SEPT9_ENST00000427674.2_Missense_Mutation_p.A95V|SEPT9_ENST00000591198.1_Missense_Mutation_p.A240V|SEPT9_ENST00000588690.1_Missense_Mutation_p.A95V|SEPT9_ENST00000585930.1_Missense_Mutation_p.A35V|SEPT9_ENST00000592420.1_Missense_Mutation_p.A68V	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	259					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CCCAGAGATGCCGGGCTCAAG	0.652													False	0	False	17:75478280	0	T	75478280	C	T	75478280	3	4	88	1	0	0	0	0	1	0	0	0	14152	739	26	2	1264	2	SEPT9	17	75478280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534220	75478280	5716930	17097	24809											
TNRC6C	57690	broad.mit.edu	37	chr17	76060855	76060855	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcaaagactgaaaactcTtggggagaaccatcctcccc	7	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76060855T>C	ENST00000335749.4	+	4	3008	c.2439T>C	c.(2437-2439)tcT>tcC	p.S813S	TNRC6C_ENST00000541771.1_Silent_p.S816S|TNRC6C_ENST00000301624.4_Silent_p.S816S|TNRC6C_ENST00000544502.1_Silent_p.S813S|TNRC6C_ENST00000588847.1_Silent_p.S813S|TNRC6C_ENST00000588061.1_Silent_p.S816S	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	816	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGAAAACTCTTGGGGAGAAC	0.517													False	0	False	17:76060855	0	C	76060855	T	C	76060855	2	2	88	1	0	0	0	0	0	0	0	1	16424	1596	56	4		4	TNRC6C	17	76060855	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	582575	76060855	5134355	17098	24810											
TNRC6C	57690	broad.mit.edu	37	chr17	76083142	76083142	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcagaccaaagagcagcagtCttcacccaacacctttgctc	7	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76083142C>A	ENST00000335749.4	+	13	4330	c.3761C>A	c.(3760-3762)tCt>tAt	p.S1254Y	TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1257Y	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1257					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGCAGCAGTCTTCACCCAAC	0.582													False	0	False	17:76083142	0	A	76083142	C	A	76083142	3	1	88	1	0	0	0	0	1	0	0	0	16424	913	32	3	3812	3	TNRC6C	17	76083142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22287	76083142	5112068	17099	24811											
TNRC6C	57690	broad.mit.edu	37	chr17	76089140	76089140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtagctgttccccataGctggtcacgtgccaaatctg	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76089140G>A	ENST00000335749.4	+	15	4657	c.4088G>A	c.(4087-4089)aGc>aAc	p.S1363N	TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1366N|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1366N|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1366N	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1366					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GTTCCCCATAGCTGGTCACGT	0.517													False	0	False	17:76089140	0	A	76089140	G	A	76089140	3	1	88	1	0	0	0	0	1	0	0	0	16424	971	34	2	4147	2	TNRC6C	17	76089140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5998	76089140	5106070	17100	24812											
TMC6	11322	broad.mit.edu	37	chr17	76120077	76120077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggcattacctgtacaCcagggtgatgcaggtgataa	14	7	0	2	rs145227095	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76120077C>T	ENST00000590602.1	-	9	1234	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	TMC6_ENST00000322933.4_De_novo_Start_InFrame|TMC6_ENST00000392467.3_Missense_Mutation_p.V359M|TMC6_ENST00000306591.7_Missense_Mutation_p.V359M|TMC6_ENST00000589553.1_Missense_Mutation_p.V132M|TMC6_ENST00000322914.3_Missense_Mutation_p.V359M			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	359						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TACCTGTACACCAGGGTGATG	0.557													False	0	False	17:76120077	0	T	76120077	C	T	76120077	3	4	88	1	0	0	0	0	1	0	0	0	16071	507	18	2	1390	2	TMC6	17	76120077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30937	76120077	5075133	17101	24813											
TMC6	11322	broad.mit.edu	37	chr17	76122448	76122448	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtctgctggctacttcCtacaaagcaagaaagactca	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76122448C>T	ENST00000590602.1	-	4	341		c.e4-1		TMC6_ENST00000322933.4_Splice_Site|TMC6_ENST00000392467.3_Splice_Site|TMC6_ENST00000306591.7_Splice_Site|TMC6_ENST00000589553.1_Splice_Site|TMC6_ENST00000322914.3_Splice_Site			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6							endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGCTACTTCCTACAAAGCAA	0.637													False	0	False	17:76122448	0	T	76122448	C	T	76122448	5	4	88	1	0	0	0	0	0	0	1	0	16071	695	24	2	2304	2	TMC6	17	76122448	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2371	76122448	5072762	17102	24814											
TMC8	147138	broad.mit.edu	37	chr17	76128508	76128508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctactcaacctgctgAgcctgctgctcaccgcaagc	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76128508A>G	ENST00000318430.5	+	4	741	c.367A>G	c.(367-369)Agc>Ggc	p.S123G	TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	123						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CAACCTGCTGAGCCTGCTGCT	0.642													False	0	False	17:76128508	0	G	76128508	A	G	76128508	3	3	88	1	0	0	0	0	1	0	0	0	16073	304	11	4	377	4	TMC8	17	76128508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6060	76128508	5066702	17103	24815											
AFMID	125061	broad.mit.edu	37	chr17	76187079	76187079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatcagtactgtcccagccGatgggttgtccgactgggag	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76187079G>A	ENST00000409257.5	+	2	146	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	AFMID_ENST00000327898.5_Missense_Mutation_p.R31Q|AFMID_ENST00000588800.1_Missense_Mutation_p.R31Q|AFMID_ENST00000591952.1_Missense_Mutation_p.R31Q|AFMID_ENST00000589256.1_Missense_Mutation_p.R31Q|AFMID_ENST00000586731.1_Missense_Mutation_p.R14Q	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	31						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TGTCCCAGCCGATGGGTTGTC	0.567													False	0	False	17:76187079	0	A	76187079	G	A	76187079	3	1	88	1	0	0	0	0	1	0	0	0	362	1058	37	1	98	1	AFMID	17	76187079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58571	76187079	5008131	17104	24816											
AFMID	125061	broad.mit.edu	37	chr17	76200768	76200768	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccttcatggtccacccgCtgacggcacagggagtggcc	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76200768C>T	ENST00000409257.5	+	5	394	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	AFMID_ENST00000327898.5_Silent_p.L114L|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	114						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GGTCCACCCGCTGACGGCACA	0.592													False	0	False	17:76200768	0	T	76200768	C	T	76200768	2	4	88	1	0	0	0	0	0	0	0	1	362	796	28	2		2	AFMID	17	76200768	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13689	76200768	4994442	17105	24817											
SOCS3	0	broad.mit.edu	37	chr17	76354664	76354664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccagggggatcttctcGcccccggagtagatgtaata	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76354664G>A	ENST00000330871.2	-	2	928	c.513C>T	c.(511-513)ggC>ggT	p.G171G		NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	171					anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GGATCTTCTCGCCCCCGGAGT	0.637													False	0	True	17:76354664	0	A	76354664	G	A	76354664	2	1	88	1	0	0	0	0	0	0	0	1	14995	1074	38	1		1	SOCS3	17	76354664	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153896	76354664	4840546	17106	24818											
DNAH17	8632	broad.mit.edu	37	chr17	76430117	76430117	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagcccctcaccttggggTtggcctccaggtagttgtag	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76430117T>C	ENST00000389840.5	-	75	12324	c.12200A>G	c.(12199-12201)aAc>aGc	p.N4067S	DNAH17_ENST00000585328.1_Missense_Mutation_p.N4068S|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACCTTGGGGTTGGCCTCCAG	0.612													False	0	True	17:76430117	0	C	76430117	T	C	76430117	3	2	88	1	0	0	0	0	1	0	0	0	4631	1725	60	4	1198	4	DNAH17	17	76430117	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	75453	76430117	4765093	17107	24819											
DNAH17	8632	broad.mit.edu	37	chr17	76435168	76435168	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagtgctggccccctcGtacctgcagaatgacccagt	10	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76435168G>A	ENST00000389840.5	-	73	11891	c.11767C>T	c.(11767-11769)Cga>Tga	p.R3923*	DNAH17_ENST00000585328.1_Intron|DNAH17_ENST00000586052.1_Intron					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGCCCCCTCGTACCTGCAGA	0.602													False	0	False	17:76435168	0	A	76435168	G	A	76435168	4	1	88	1	0	0	0	0	0	1	0	0	4631	1160	40	1		1	DNAH17	17	76435168	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5051	76435168	4760042	17108	24820											
DNAH17	8632	broad.mit.edu	37	chr17	76450748	76450748	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccgcgtcatctgtcagcaGgctcaagggatccaggccat	12	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76450748G>T	ENST00000389840.5	-	64	10292	c.10168C>A	c.(10168-10170)Ctg>Atg	p.L3390M	DNAH17_ENST00000585328.1_Missense_Mutation_p.L3399M|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGTCAGCAGGCTCAAGGGA	0.587													False	0	False	17:76450748	0	T	76450748	G	T	76450748	3	4	88	1	0	0	0	0	1	0	0	0	4631	991	35	3	3250	3	DNAH17	17	76450748	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15580	76450748	4744462	17109	24821											
DNAH17	8632	broad.mit.edu	37	chr17	76451842	76451842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggacgtccccacacaGcgtgaccccctggctcctga	11	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76451842G>T	ENST00000389840.5	-	63	10136	c.10012C>A	c.(10012-10014)Ctg>Atg	p.L3338M	DNAH17_ENST00000585328.1_Missense_Mutation_p.L3347M|DNAH17_ENST00000586052.1_Intron					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCCCACACAGCGTGACCCCC	0.532													False	0	True	17:76451842	0	T	76451842	G	T	76451842	3	4	88	1	0	0	0	0	1	0	0	0	4631	962	34	3	3410	3	DNAH17	17	76451842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1094	76451842	4743368	17110	24822											
DNAH17	8632	broad.mit.edu	37	chr17	76458993	76458993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgattttggcaacaagttccGttctcttcttggccagcagg	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76458993G>A	ENST00000389840.5	-	57	9189	c.9065C>T	c.(9064-9066)aCg>aTg	p.T3022M	DNAH17_ENST00000585328.1_Missense_Mutation_p.T3031M|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACAAGTTCCGTTCTCTTCTT	0.557													False	0	False	17:76458993	0	A	76458993	G	A	76458993	3	1	88	1	0	0	0	0	1	0	0	0	4631	1145	40	1	4381	1	DNAH17	17	76458993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7151	76458993	4736217	17111	24823											
DNAH17	8632	broad.mit.edu	37	chr17	76475586	76475586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggccgcggccaccagCtggctgcttatcctctggat	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76475586C>T	ENST00000389840.5	-	50	7963	c.7839G>A	c.(7837-7839)caG>caA	p.Q2613Q	DNAH17_ENST00000585328.1_Silent_p.Q2622Q|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGCCACCAGCTGGCTGCTTA	0.602													False	0	True	17:76475586	0	T	76475586	C	T	76475586	2	4	88	1	0	0	0	0	0	0	0	1	4631	796	28	2		2	DNAH17	17	76475586	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16593	76475586	4719624	17112	24824											
DNAH17	8632	broad.mit.edu	37	chr17	76482324	76482324	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctggtcctggaacatggcGccaccgaaggcccagaagca	12	14	0	1	rs141022219	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76482324G>T	ENST00000389840.5	-	45	7165	c.7041C>A	c.(7039-7041)ggC>ggA	p.G2347G	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.G2356G|RP11-559N14.5_ENST00000588565.1_RNA|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGAACATGGCGCCACCGAAGG	0.622													False	0	False	17:76482324	0	T	76482324	G	T	76482324	2	4	88	1	0	0	0	0	0	0	0	1	4631	1074	38	3		3	DNAH17	17	76482324	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6738	76482324	4712886	17113	24825											
DNAH17	8632	broad.mit.edu	37	chr17	76496430	76496430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgaagacgtagaccatgGtgcccagggctctgcccagg	14	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76496430G>A	ENST00000389840.5	-	36	5679	c.5555C>T	c.(5554-5556)aCc>aTc	p.T1852I	DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.G121D|DNAH17_ENST00000585328.1_Missense_Mutation_p.T1861I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTAGACCATGGTGCCCAGGGC	0.622													False	0	False	17:76496430	0	A	76496430	G	A	76496430	3	1	88	1	0	0	0	0	1	0	0	0	4631	1261	44	2	7975	2	DNAH17	17	76496430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14106	76496430	4698780	17114	24826											
DNAH17	8632	broad.mit.edu	37	chr17	76498715	76498715	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagcgttttcatagccttcCtccagcctggcaaatgccag	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76498715C>A	ENST00000389840.5	-	33	5239	c.5115G>T	c.(5113-5115)gaG>gaT	p.E1705D	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E1713D					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATAGCCTTCCTCCAGCCTGG	0.478													False	0	False	17:76498715	0	A	76498715	C	A	76498715	3	1	88	1	0	0	0	0	1	0	0	0	4631	680	24	3	8436	3	DNAH17	17	76498715	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2285	76498715	4696495	17115	24827											
DNAH17	8632	broad.mit.edu	37	chr17	76565528	76565528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcagcacatttacagCcagggagatgccactcagga	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76565528C>A	ENST00000389840.5	-	8	1250	c.1126G>T	c.(1126-1128)Gct>Tct	p.A376S	DNAH17_ENST00000585328.1_Missense_Mutation_p.A376S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACATTTACAGCCAGGGAGATG	0.542													False	0	False	17:76565528	0	A	76565528	C	A	76565528	3	1	88	1	0	0	0	0	1	0	0	0	4631	739	26	3	12558	3	DNAH17	17	76565528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66813	76565528	4629682	17116	24828											
USP36	57602	broad.mit.edu	37	chr17	76799818	76799818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgagcccagcctctgcGgctctcccacaaaggtcttt	8	16	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76799818G>A	ENST00000542802.3	-	16	2902	c.2459C>T	c.(2458-2460)cCg>cTg	p.P820L	USP36_ENST00000312010.6_Missense_Mutation_p.P820L|USP36_ENST00000449938.2_Intron			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGCCTCTGCGGCTCTCCCAC	0.622													False	0	False	17:76799818	0	A	76799818	G	A	76799818	3	1	88	1	0	0	0	0	1	0	0	0	17151	1116	39	1	932	1	USP36	17	76799818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234290	76799818	4395392	17117	24829											
USP36	57602	broad.mit.edu	37	chr17	76803497	76803497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagttctgggggaaaagtgCtgtggaggagctggcttctt	17	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76803497C>T	ENST00000542802.3	-	14	2072	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	USP36_ENST00000312010.6_Silent_p.Q543Q|USP36_ENST00000449938.2_Silent_p.Q243Q			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGGAAAAGTGCTGTGGAGGAG	0.602													False	0	False	17:76803497	0	T	76803497	C	T	76803497	2	4	88	1	0	0	0	0	0	0	0	1	17151	796	28	2		2	USP36	17	76803497	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3679	76803497	4391713	17118	24830											
LGALS3BP	3959	broad.mit.edu	37	chr17	76967886	76967886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatggtgcgatctgagccGccagacttggtgaggcccag	15	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76967886G>A	ENST00000262776.3	-	6	1838	c.1530C>T	c.(1528-1530)ggC>ggT	p.G510G	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	510					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GATCTGAGCCGCCAGACTTGG	0.612											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:76967886	0	A	76967886	G	A	76967886	2	1	88	1	0	0	0	0	0	0	0	1	8795	1074	38	1		1	LGALS3BP	17	76967886	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164389	76967886	4227324	17119	24831											
LGALS3BP	3959	broad.mit.edu	37	chr17	76969225	76969225	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgctgatggacaggtcgcaGccccgctggctgtcaaagat	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76969225G>T	ENST00000262776.3	-	5	764	c.456C>A	c.(454-456)ggC>ggA	p.G152G	LGALS3BP_ENST00000591778.1_Intron|LGALS3BP_ENST00000585407.1_Silent_p.G152G	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	152					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACAGGTCGCAGCCCCGCTGGC	0.647													False	0	True	17:76969225	0	T	76969225	G	T	76969225	2	4	88	1	0	0	0	0	0	0	0	1	8795	958	34	3		3	LGALS3BP	17	76969225	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1339	76969225	4225985	17120	24832											
C1QTNF1	114897	broad.mit.edu	37	chr17	77040048	77040048	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcccaccagggcccggcaggAagatgggctcccgtggacag	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77040048A>G	ENST00000354124.3	+	2	285	c.28A>G	c.(28-30)Aag>Gag	p.K10E	C1QTNF1_ENST00000392445.2_5'UTR|C1QTNF1_ENST00000580454.1_5'UTR|C1QTNF1_ENST00000579760.1_5'UTR|C1QTNF1_ENST00000339142.2_5'UTR|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000311661.4_Intron|C1QTNF1_ENST00000581774.1_5'UTR|C1QTNF1_ENST00000580474.1_5'UTR|C1QTNF1_ENST00000583904.1_5'UTR			Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	0						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCCCGGCAGGAAGATGGGCTC	0.597													False	0	False	17:77040048	0	G	77040048	A	G	77040048	3	3	88	1	0	0	0	0	1	0	0	0	1977	261	9	4		4	C1QTNF1	17	77040048	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	70823	77040048	4155162	17121	24833											
C1QTNF1	114897	broad.mit.edu	37	chr17	77042743	77042743	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctccatgtacccggcgaccGccgtgccccagatcaacatc	8	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77042743G>T	ENST00000339142.2	+	4	817	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	C1QTNF1_ENST00000392445.2_Missense_Mutation_p.A88S|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.A6S|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.A6S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.A98S	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	88						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCCGGCGACCGCCGTGCCCCA	0.597											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:77042743	0	T	77042743	G	T	77042743	3	4	88	1	0	0	0	0	1	0	0	0	1977	1087	38	3	268	3	C1QTNF1	17	77042743	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2695	77042743	4152467	17122	24834											
C1QTNF1	114897	broad.mit.edu	37	chr17	77044003	77044003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttgttcgcgcaggtgggcGaccgcagcatcatgcaaagc	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77044003G>A	ENST00000339142.2	+	5	1234	c.679G>A	c.(679-681)Gac>Aac	p.D227N	C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D145N|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	227	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCAGGTGGGCGACCGCAGCAT	0.577													False	0	False	17:77044003	0	A	77044003	G	A	77044003	3	1	88	1	0	0	0	0	1	0	0	0	1977	1058	37	1	689	1	C1QTNF1	17	77044003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1260	77044003	4151207	17123	24835											
ENGASE	64772	broad.mit.edu	37	chr17	77078194	77078194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcccagtgcctcccctgGgacctcatttcctcatggac	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77078194G>A	ENST00000539857.2	+	6	944	c.529G>A	c.(529-531)Gga>Aga	p.G177R	ENGASE_ENST00000579016.1_Intron|ENGASE_ENST00000584568.1_Intron			Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	0						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GCCTCCCCTGGGACCTCATTT	0.592													False	0	True	17:77078194	0	A	77078194	G	A	77078194	3	1	88	1	0	0	0	0	1	0	0	0	5150	1247	43	2		2	ENGASE	17	77078194	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34191	77078194	4117016	17124	24836											
ENPP7	339221	broad.mit.edu	37	chr17	77708906	77708906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccaaggggtggctgtgaCgcggagccggaaagaaggca	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77708906C>T	ENST00000328313.5	+	3	685	c.464C>T	c.(463-465)aCg>aTg	p.T155M		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	155					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTGGCTGTGACGCGGAGCCGG	0.592													False	0	False	17:77708906	0	T	77708906	C	T	77708906	3	4	88	1	0	0	0	0	1	0	0	0	5167	536	19	1	474	1	ENPP7	17	77708906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	630712	77708906	3486304	17125	24837											
ENPP7	339221	broad.mit.edu	37	chr17	77709051	77709051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccggactccacgggccaCaggtacggccccgagtcccc	13	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77709051C>T	ENST00000328313.5	+	3	830	c.609C>T	c.(607-609)caC>caT	p.H203H		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	203					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCACGGGCCACAGGTACGGCC	0.657													False	0	False	17:77709051	0	T	77709051	C	T	77709051	2	4	88	1	0	0	0	0	0	0	0	1	5167	477	17	2		2	ENPP7	17	77709051	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	77709051	3486159	17126	24838											
ENPP7	339221	broad.mit.edu	37	chr17	77709091	77709091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagaggagggagatggtgCggcaggtggaccggaccgtg	22	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77709091C>T	ENST00000328313.5	+	3	870	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	217					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGATGGTGCGGCAGGTGGA	0.657													False	0	False	17:77709091	0	T	77709091	C	T	77709091	3	4	88	1	0	0	0	0	1	0	0	0	5167	759	27	1	659	1	ENPP7	17	77709091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	77709091	3486119	17127	24839											
ENPP7	339221	broad.mit.edu	37	chr17	77711050	77711050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctactctgctgcccatgCtgcacacaggtgagggcagg	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77711050C>T	ENST00000328313.5	+	4	1458	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	413					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCTGCCCATGCTGCACACAGG	0.637													False	0	False	17:77711050	0	T	77711050	C	T	77711050	2	4	88	1	0	0	0	0	0	0	0	1	5167	796	28	2		2	ENPP7	17	77711050	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1959	77711050	3484160	17128	24840											
ENPP7	339221	broad.mit.edu	37	chr17	77711769	77711769	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccaagggaagatctgCtctcccgcccagcagcaggc	11	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77711769C>A	ENST00000328313.5	+	5	1522	c.1301C>A	c.(1300-1302)gCt>gAt	p.A434D		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	434					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAAGATCTGCTCTCCCGCCC	0.597													False	0	False	17:77711769	0	A	77711769	C	A	77711769	3	1	88	1	0	0	0	0	1	0	0	0	5167	797	28	3	1319	3	ENPP7	17	77711769	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	719	77711769	3483441	17129	24841											
CBX2	84733	broad.mit.edu	37	chr17	77757883	77757883	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttgcaggcctggcagctcTgaaggcccacgccaaggagg	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77757883T>G	ENST00000310942.4	+	5	745	c.641T>G	c.(640-642)cTg>cGg	p.L214R		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	214					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGGCAGCTCTGAAGGCCCAC	0.706													False	0	False	17:77757883	0	G	77757883	T	G	77757883	3	3	88	1	0	0	0	0	1	0	0	0	2738	1580	55	4	1007	4	CBX2	17	77757883	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46114	77757883	3437327	17130	24842											
CCDC40	55036	broad.mit.edu	37	chr17	78024044	78024044	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcccgcgctctctacaCcaagacctgcgcagccgcca	10	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78024044C>A	ENST00000397545.4	+	7	1148	c.1121C>A	c.(1120-1122)aCc>aAc	p.T374N	CCDC40_ENST00000374876.4_Missense_Mutation_p.T374N|CCDC40_ENST00000269318.5_Missense_Mutation_p.T374N|CCDC40_ENST00000374877.3_Missense_Mutation_p.T374N	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	374					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTCTCTACACCAAGACCTGC	0.657													False	0	False	17:78024044	0	A	78024044	C	A	78024044	3	1	88	1	0	0	0	0	1	0	0	0	2833	507	18	3	1147	3	CCDC40	17	78024044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266161	78024044	3171166	17131	24843											
CCDC40	55036	broad.mit.edu	37	chr17	78032362	78032362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcagaacatcgaccaggAcatgcgtgacgacatccgcg	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032362A>G	ENST00000397545.4	+	8	1256	c.1229A>G	c.(1228-1230)gAc>gGc	p.D410G	CCDC40_ENST00000374876.4_Missense_Mutation_p.D410G|CCDC40_ENST00000269318.5_Missense_Mutation_p.D410G|CCDC40_ENST00000374877.3_Missense_Mutation_p.D410G	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	410					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATCGACCAGGACATGCGTGAC	0.557													False	0	False	17:78032362	0	G	78032362	A	G	78032362	3	3	88	1	0	0	0	0	1	0	0	0	2833	275	10	4	1259	4	CCDC40	17	78032362	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8318	78032362	3162848	17132	24844											
CCDC40	55036	broad.mit.edu	37	chr17	78032408	78032408	+	Silent	SNP	C	C	T													acacaagtggtaaagaaggcCgagacggagaggatccgggc					rs145013523	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032408C>T	ENST00000397545.4	+	8	1302	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	CCDC40_ENST00000374876.4_Silent_p.A425A|CCDC40_ENST00000269318.5_Silent_p.A425A|CCDC40_ENST00000374877.3_Silent_p.A425A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	425					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TAAAGAAGGCCGAGACGGAGA	0.498													False	0	False	17:78032408	0	T	78032408	C	T	78032408	2	4	88	1	0	0	0	0	0	0	0	1	2833	639	23	1		1	CCDC40	17	78032408	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	78032408	3162802	17133	24845	262	2									
CCDC40	55036	broad.mit.edu	37	chr17	78032413	78032413	+	Missense_Mutation	SNP	C	C	T													agtggtaaagaaggccgagaCggagaggatccgggcagaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032413C>T	ENST00000397545.4	+	8	1307	c.1280C>T	c.(1279-1281)aCg>aTg	p.T427M	CCDC40_ENST00000374876.4_Missense_Mutation_p.T427M|CCDC40_ENST00000269318.5_Missense_Mutation_p.T427M|CCDC40_ENST00000374877.3_Missense_Mutation_p.T427M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	427					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGCCGAGACGGAGAGGATC	0.502													False	0	False	17:78032413	0	T	78032413	C	T	78032413	3	4	88	1	0	0	0	0	1	0	0	0	2833	536	19	1	1310	1	CCDC40	17	78032413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	78032413	3162797	17134	24846	262	2									
CCDC40	55036	broad.mit.edu	37	chr17	78055849	78055849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctgcagaaggagaagAccaacatggtaggcccctgc	14	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78055849A>G	ENST00000397545.4	+	12	2008	c.1981A>G	c.(1981-1983)Acc>Gcc	p.T661A	CCDC40_ENST00000374877.3_Missense_Mutation_p.T661A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	661					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAAGGAGAAGACCAACATGGT	0.622													False	0	False	17:78055849	0	G	78055849	A	G	78055849	3	3	88	1	0	0	0	0	1	0	0	0	2833	275	10	4	2027	4	CCDC40	17	78055849	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23436	78055849	3139361	17135	24847											
GAA	2548	broad.mit.edu	37	chr17	78086504	78086504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcagctcgcctcctccGtgccaggtgagctcctacca	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78086504G>A	ENST00000302262.3	+	13	2101	c.1882G>A	c.(1882-1884)Gtg>Atg	p.V628M	GAA_ENST00000390015.3_Missense_Mutation_p.V628M	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	628					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CGCCTCCTCCGTGCCAGGTGA	0.687													False	0	False	17:78086504	0	A	78086504	G	A	78086504	3	1	88	1	0	0	0	0	1	0	0	0	6189	1145	40	1	1928	1	GAA	17	78086504	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30655	78086504	3108706	17136	24848											
EIF4A3	9775	broad.mit.edu	37	chr17	78111992	78111992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgatggtcagtgtgtcGtagaggtcacacagagtgtc	15	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78111992G>A	ENST00000269349.3	-	8	1037	c.816C>T	c.(814-816)taC>taT	p.Y272Y		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	272	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TCAGTGTGTCGTAGAGGTCAC	0.478													False	0	False	17:78111992	0	A	78111992	G	A	78111992	2	1	88	1	0	0	0	0	0	0	0	1	5058	1140	40	1		1	EIF4A3	17	78111992	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25488	78111992	3083218	17137	24849											
EIF4A3	9775	broad.mit.edu	37	chr17	78120716	78120716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctctttgagcagccgCtttcgcgccgagcccgaggt	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78120716C>T	ENST00000269349.3	-	1	266	c.45G>A	c.(43-45)aaG>aaA	p.K15K		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	15					mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGAGCAGCCGCTTTCGCGCCG	0.652													False	0	True	17:78120716	0	T	78120716	C	T	78120716	2	4	88	1	0	0	0	0	0	0	0	1	5058	796	28	2		2	EIF4A3	17	78120716	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8724	78120716	3074494	17138	24850											
CARD14	79092	broad.mit.edu	37	chr17	78165181	78165181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcctggtggagaaggaCtccctccgcaggcaggtgtt	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78165181C>T	ENST00000573882.1	+	10	1685	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D	CARD14_ENST00000344227.2_Silent_p.D383D|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Silent_p.D146D|CARD14_ENST00000570421.1_Silent_p.D383D			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	383					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGAGAAGGACTCCCTCCGCA	0.652													False	0	True	17:78165181	0	T	78165181	C	T	78165181	2	4	88	1	0	0	0	0	0	0	0	1	2666	564	20	2		2	CARD14	17	78165181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44465	78165181	3030029	17139	24851											
SGSH	6448	broad.mit.edu	37	chr17	78184610	78184610	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggttgtgcacgaggcggaAgtgccggtgctgcacggagc	19	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78184610A>C	ENST00000326317.6	-	8	1236	c.1150T>G	c.(1150-1152)Ttc>Gtc	p.F384V	SGSH_ENST00000534910.1_Missense_Mutation_p.F181V	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	384					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACGAGGCGGAAGTGCCGGTGC	0.637													False	0	False	17:78184610	0	C	78184610	A	C	78184610	3	2	88	1	0	0	0	0	1	0	0	0	14302	72	3	4	362	4	SGSH	17	78184610	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19429	78184610	3010600	17140	24852											
SLC26A11	284129	broad.mit.edu	37	chr17	78197116	78197116	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctgctgctgccgtcaccAtcggctttggacagatcaag	10	14	3	1	rs144577972		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78197116A>C	ENST00000361193.3	+	5	773	c.493A>C	c.(493-495)Atc>Ctc	p.I165L	SLC26A11_ENST00000546047.2_Missense_Mutation_p.I165L|SLC26A11_ENST00000411502.3_Missense_Mutation_p.I165L|SLC26A11_ENST00000572725.1_Missense_Mutation_p.I165L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	165						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCCGTCACCATCGGCTTTGG	0.622													False	0	False	17:78197116	0	C	78197116	A	C	78197116	3	2	88	1	0	0	0	0	1	0	0	0	14596	217	8	4	503	4	SLC26A11	17	78197116	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12506	78197116	2998094	17141	24853											
SLC26A11	284129	broad.mit.edu	37	chr17	78215619	78215619	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccaggagctgctggccatCggtaagaccccagccgcggg	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78215619C>T	ENST00000361193.3	+	10	1315	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	SLC26A11_ENST00000546047.2_Splice_Site_p.I345I|SLC26A11_ENST00000411502.3_Splice_Site_p.I345I|SLC26A11_ENST00000572725.1_Splice_Site_p.I345I	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	345						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCTGGCCATCGGTAAGACCC	0.552													False	0	False	17:78215619	0	T	78215619	C	T	78215619	5	4	88	1	0	0	0	0	0	0	1	0	14596	898	31	1	1065	1	SLC26A11	17	78215619	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18503	78215619	2979591	17142	24854											
RNF213	57674	broad.mit.edu	37	chr17	78319448	78319448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccttagcgacctgcggcGtggtggtaccaatgctgaca	12	11	0	1	rs148213205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78319448G>A	ENST00000582970.1	+	29	7456	c.7313G>A	c.(7312-7314)cGt>cAt	p.R2438H	RNF213_ENST00000508628.2_Missense_Mutation_p.R2487H|RNF213_ENST00000336301.6_Missense_Mutation_p.R511H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACCTGCGGCGTGGTGGTACC	0.532													False	0	False	17:78319448	0	A	78319448	G	A	78319448	3	1	88	1	0	0	0	0	1	0	0	0	13556	1145	40	1	7742	1	RNF213	17	78319448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103829	78319448	2875762	17143	24855											
RNF213	57674	broad.mit.edu	37	chr17	78335544	78335544	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctctgcaggactgcccaaGaagttcgtggacatctttca	9	12	3	1	rs146910347		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78335544G>T	ENST00000582970.1	+	39	11354	c.11211G>T	c.(11209-11211)aaG>aaT	p.K3737N	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.K3786N|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.K1810N	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACTGCCCAAGAAGTTCGTGG	0.577													False	0	False	17:78335544	0	T	78335544	G	T	78335544	3	4	88	1	0	0	0	0	1	0	0	0	13556	933	33	3	11680	3	RNF213	17	78335544	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16096	78335544	2859666	17144	24856											
RNF213	57674	broad.mit.edu	37	chr17	78337097	78337097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccgttggaaccatgagCtggctggatgtgagatggta	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78337097C>T	ENST00000582970.1	+	40	11694	c.11551C>T	c.(11551-11553)Ctg>Ttg	p.L3851L	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.L3900L|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.L1924L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAACCATGAGCTGGCTGGATG	0.567													False	0	True	17:78337097	0	T	78337097	C	T	78337097	2	4	88	1	0	0	0	0	0	0	0	1	13556	796	28	2		2	RNF213	17	78337097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1553	78337097	2858113	17145	24857											
RNF213	57674	broad.mit.edu	37	chr17	78346393	78346393	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctagaagaggaaggtcgtTtccttaaggcatattctcca	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78346393T>G	ENST00000582970.1	+	48	12753	c.12610T>G	c.(12610-12612)Ttc>Gtc	p.F4204V	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.F4253V|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.F2277V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	238										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAAGGTCGTTTCCTTAAGGC	0.517													False	0	True	17:78346393	0	G	78346393	T	G	78346393	3	3	88	1	0	0	0	0	1	0	0	0	13556	1841	64	4	13115	4	RNF213	17	78346393	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9296	78346393	2848817	17146	24858											
RNF213	57674	broad.mit.edu	37	chr17	78348322	78348322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacggcgatgaatacaaggCtctccgtgatgctgtggcca	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78348322C>T	ENST00000582970.1	+	50	13150	c.13007C>T	c.(13006-13008)gCt>gTt	p.A4336V	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.A4385V|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.A2409V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAATACAAGGCTCTCCGTGAT	0.567													False	0	False	17:78348322	0	T	78348322	C	T	78348322	3	4	88	1	0	0	0	0	1	0	0	0	13556	797	28	2	13520	2	RNF213	17	78348322	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1929	78348322	2846888	17147	24859											
RNF213	57674	broad.mit.edu	37	chr17	78363064	78363064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtctgtcgtagaagtcaCtctggggtttctgagcacag	13	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78363064C>T	ENST00000582970.1	+	65	15235	c.15092C>T	c.(15091-15093)aCt>aTt	p.T5031I	CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.T5080I|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.T3104I|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTAGAAGTCACTCTGGGGTTT	0.517													False	0	False	17:78363064	0	T	78363064	C	T	78363064	3	4	88	1	0	0	0	0	1	0	0	0	13556	565	20	2	15665	2	RNF213	17	78363064	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14742	78363064	2832146	17148	24860											
RPTOR	57521	broad.mit.edu	37	chr17	78681708	78681708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgcacgtccttacgtcGcaacgccaaggaggagcgag	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78681708G>A	ENST00000306801.3	+	4	778	c.416G>A	c.(415-417)cGc>cAc	p.R139H	RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000570891.1_Missense_Mutation_p.R139H|RPTOR_ENST00000544334.2_Missense_Mutation_p.R139H	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	139					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCCTTACGTCGCAACGCCAAG	0.557													False	0	False	17:78681708	0	A	78681708	G	A	78681708	3	1	88	1	0	0	0	0	1	0	0	0	13744	1087	38	1	430	1	RPTOR	17	78681708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318644	78681708	2513502	17149	24861											
RPTOR	57521	broad.mit.edu	37	chr17	78796055	78796055	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgggtgaactgaactggatCttcacagccatcacagacac	9	12	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78796055C>A	ENST00000306801.3	+	8	1307	c.945C>A	c.(943-945)atC>atA	p.I315I	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Silent_p.I130I|RPTOR_ENST00000570891.1_Silent_p.I315I|RPTOR_ENST00000544334.2_Silent_p.I315I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	315					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGAACTGGATCTTCACAGCCA	0.637													False	0	False	17:78796055	0	A	78796055	C	A	78796055	2	1	88	1	0	0	0	0	0	0	0	1	13744	903	32	3		3	RPTOR	17	78796055	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114347	78796055	2399155	17150	24862											
RPTOR	57521	broad.mit.edu	37	chr17	78897351	78897351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacgatgtggccaagcagCcggtcagccgagacttgcct	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78897351C>T	ENST00000306801.3	+	23	3048	c.2686C>T	c.(2686-2688)Ccg>Tcg	p.P896S	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.P738S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	896					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCCAAGCAGCCGGTCAGCCG	0.652													False	0	False	17:78897351	0	T	78897351	C	T	78897351	3	4	88	1	0	0	0	0	1	0	0	0	13744	739	26	2	2776	2	RPTOR	17	78897351	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101296	78897351	2297859	17151	24863											
RPTOR	57521	broad.mit.edu	37	chr17	78923309	78923309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacccagagatggtgaccgCgtggcaggggctctcggaca	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78923309C>T	ENST00000306801.3	+	28	3694	c.3332C>T	c.(3331-3333)gCg>gTg	p.A1111V	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.A953V	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1111					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ATGGTGACCGCGTGGCAGGGG	0.612													False	0	False	17:78923309	0	T	78923309	C	T	78923309	3	4	88	1	0	0	0	0	1	0	0	0	13744	768	27	1	3442	1	RPTOR	17	78923309	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25958	78923309	2271901	17152	24864											
RPTOR	57521	broad.mit.edu	37	chr17	78933943	78933943	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattcccaccgctcactcatCgtggctggcctcggtgacgg	12	15	2	1	rs138030342		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78933943C>T	ENST00000306801.3	+	30	3905	c.3543C>T	c.(3541-3543)atC>atT	p.I1181I	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.I1023I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1181					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GCTCACTCATCGTGGCTGGCC	0.622													False	0	False	17:78933943	0	T	78933943	C	T	78933943	2	4	88	1	0	0	0	0	0	0	0	1	13744	874	31	1		1	RPTOR	17	78933943	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10634	78933943	2261267	17153	24865											
BAIAP2	10458	broad.mit.edu	37	chr17	79059520	79059520	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggagctggactccaggtatCtgagtgtaagtgcaccctgg	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79059520C>A	ENST00000321300.6	+	5	439	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	BAIAP2_ENST00000321280.7_Missense_Mutation_p.L116M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.L116M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.L116M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.L149M|BAIAP2_ENST00000428708.2_Missense_Mutation_p.L116M|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L38M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	116	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CTCCAGGTATCTGAGTGTAAG	0.597													False	0	False	17:79059520	0	A	79059520	C	A	79059520	3	1	88	1	0	0	0	0	1	0	0	0	1305	912	32	3	364	3	BAIAP2	17	79059520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125577	79059520	2135690	17154	24866											
BAIAP2	10458	broad.mit.edu	37	chr17	79073803	79073803	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctacaagaccgcactgacaGaggagcgcaggcgcttctgc	13	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79073803G>T	ENST00000321300.6	+	7	658	c.565G>T	c.(565-567)Gag>Tag	p.E189*	BAIAP2_ENST00000321280.7_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000575712.1_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000435091.3_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000575245.1_Nonsense_Mutation_p.E222*|BAIAP2_ENST00000428708.2_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000416299.2_Nonsense_Mutation_p.E52*|BAIAP2_ENST00000392411.3_Nonsense_Mutation_p.E111*	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	189	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGCACTGACAGAGGAGCGCAG	0.622													False	0	False	17:79073803	0	T	79073803	G	T	79073803	4	4	88	1	0	0	0	0	0	1	0	0	1305	943	33	3	591	3	BAIAP2	17	79073803	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14283	79073803	2121407	17155	24867											
BAIAP2	10458	broad.mit.edu	37	chr17	79077823	79077823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaatccctgtctcctccGcagtctcagagcaagctcag	7	17	3	1	rs148408272	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79077823G>A	ENST00000321300.6	+	9	1074	c.981G>A	c.(979-981)ccG>ccA	p.P327P	BAIAP2_ENST00000321280.7_Silent_p.P327P|BAIAP2_ENST00000575712.1_Silent_p.P327P|BAIAP2_ENST00000435091.3_Silent_p.P327P|BAIAP2_ENST00000575245.1_Silent_p.P360P|BAIAP2_ENST00000428708.2_Silent_p.P327P|BAIAP2_ENST00000416299.2_Silent_p.P190P|BAIAP2_ENST00000392411.3_Silent_p.P249P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	327					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGTCTCCTCCGCAGTCTCAGA	0.617													False	0	False	17:79077823	0	A	79077823	G	A	79077823	2	1	88	1	0	0	0	0	0	0	0	1	1305	1074	38	1		1	BAIAP2	17	79077823	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4020	79077823	2117387	17156	24868											
AATK	9625	broad.mit.edu	37	chr17	79094040	79094040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacgtcgtcgaagaaggaCacggccttcttcttgcgttc	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79094040C>T	ENST00000326724.4	-	11	3720	c.3696G>A	c.(3694-3696)gtG>gtA	p.V1232V	AATK_ENST00000417379.1_Silent_p.V1129V	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1232						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGAAGAAGGACACGGCCTTCT	0.677													False	0	False	17:79094040	0	T	79094040	C	T	79094040	2	4	88	1	0	0	0	0	0	0	0	1	26	465	17	2		2	AATK	17	79094040	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16217	79094040	2101170	17157	24869											
AATK	9625	broad.mit.edu	37	chr17	79094443	79094443	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggtcagcaggaaaaactggGagcagctggggctgggccca	18	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79094443G>T	ENST00000326724.4	-	11	3317	c.3293C>A	c.(3292-3294)tCc>tAc	p.S1098Y	AATK_ENST00000417379.1_Missense_Mutation_p.S995Y	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1098	Pro-rich.					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAAAAACTGGGAGCAGCTGGG	0.682													False	0	True	17:79094443	0	T	79094443	G	T	79094443	3	4	88	1	0	0	0	0	1	0	0	0	26	1174	41	3	847	3	AATK	17	79094443	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	403	79094443	2100767	17158	24870											
AZI1	22994	broad.mit.edu	37	chr17	79166137	79166137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccttcctggtgcggccgGcctcccacgcctgcctctcc	9	22	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79166137G>A	ENST00000269392.4	-	21	2859	c.2612C>T	c.(2611-2613)gCc>gTc	p.A871V	AZI1_ENST00000374782.3_Missense_Mutation_p.A832V|AZI1_ENST00000575907.1_Missense_Mutation_p.A835V|AZI1_ENST00000450824.2_Missense_Mutation_p.A868V	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	871					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGTGCGGCCGGCCTCCCACGC	0.701													False	0	True	17:79166137	0	A	79166137	G	A	79166137	3	1	88	1	0	0	0	0	1	0	0	0	1244	1203	42	2	663	2	AZI1	17	79166137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71694	79166137	2029073	17159	24871											
AZI1	22994	broad.mit.edu	37	chr17	79181033	79181033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaggaagtctgtgggctcCgttggcctgcatccgagaga	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79181033C>T	ENST00000269392.4	-	4	526	c.279G>A	c.(277-279)acG>acA	p.T93T	AZI1_ENST00000575907.1_Silent_p.T93T|AZI1_ENST00000374782.3_Silent_p.T93T|AZI1_ENST00000450824.2_Silent_p.T93T	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	93					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTGTGGGCTCCGTTGGCCTGC	0.647													False	0	False	17:79181033	0	T	79181033	C	T	79181033	2	4	88	1	0	0	0	0	0	0	0	1	1244	639	23	1		1	AZI1	17	79181033	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14896	79181033	2014177	17160	24872											
SLC38A10	124565	broad.mit.edu	37	chr17	79219815	79219815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctgtccaccctgctcGccatcagagatgacccgcag	9	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79219815G>A	ENST00000374759.3	-	16	3284	c.2901C>T	c.(2899-2901)ggC>ggT	p.G967G		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	967					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCCTGCTCGCCATCAGAGA	0.687													False	0	False	17:79219815	0	A	79219815	G	A	79219815	2	1	88	1	0	0	0	0	0	0	0	1	14682	1074	38	1		1	SLC38A10	17	79219815	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38782	79219815	1975395	17161	24873											
SLC38A10	124565	broad.mit.edu	37	chr17	79226464	79226464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcgtggcggtgggcctcGcccacaggcacagcaatccc	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79226464G>A	ENST00000374759.3	-	13	1859	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	SLC38A10_ENST00000288439.5_Silent_p.G492G	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	492					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGTGGGCCTCGCCCACAGGCA	0.607													False	0	True	17:79226464	0	A	79226464	G	A	79226464	2	1	88	1	0	0	0	0	0	0	0	1	14682	1074	38	1		1	SLC38A10	17	79226464	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6649	79226464	1968746	17162	24874											
SLC38A10	124565	broad.mit.edu	37	chr17	79257209	79257209	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccctgaacacatccttacCtgaaacccgaacagccgggc	7	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79257209C>A	ENST00000374759.3	-	4	740	c.357G>T	c.(355-357)caG>caT	p.Q119H	SLC38A10_ENST00000288439.5_Splice_Site_p.Q119H	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	119					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACATCCTTACCTGAAACCCGA	0.602													False	0	False	17:79257209	0	A	79257209	C	A	79257209	5	1	88	1	0	0	0	0	0	0	1	0	14682	695	24	3	3332	3	SLC38A10	17	79257209	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30745	79257209	1938001	17163	24875											
C17orf70	80233	broad.mit.edu	37	chr17	79512857	79512857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccctcacgacgtccacaGcagcattctcagcaaggagc	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79512857G>A	ENST00000537152.1	-	6	2297	c.1772C>T	c.(1771-1773)gCt>gTt	p.A591V	C17orf70_ENST00000425898.2_Missense_Mutation_p.A391V|C17orf70_ENST00000327787.8_Missense_Mutation_p.A742V	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	742					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GACGTCCACAGCAGCATTCTC	0.637													False	0	False	17:79512857	0	A	79512857	G	A	79512857	3	1	88	1	0	0	0	0	1	0	0	0	1889	971	34	2	436	2	C17orf70	17	79512857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	255648	79512857	1682353	17164	24876											
C17orf70	80233	broad.mit.edu	37	chr17	79514338	79514338	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgggcaggtcgagcccGccgttctcaccagggcccag	14	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79514338G>T	ENST00000537152.1	-	5	1842	c.1317C>A	c.(1315-1317)ggC>ggA	p.G439G	C17orf70_ENST00000425898.2_Silent_p.G239G|C17orf70_ENST00000327787.8_Silent_p.G590G	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	590					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGTCGAGCCCGCCGTTCTCAC	0.692													False	0	True	17:79514338	0	T	79514338	G	T	79514338	2	4	88	1	0	0	0	0	0	0	0	1	1889	1074	38	3		3	C17orf70	17	79514338	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1481	79514338	1680872	17165	24877											
TSPAN10	83882	broad.mit.edu	37	chr17	79612028	79612028	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctctgcaggaaactgcagGccagaagcccctctctgtgc	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79612028G>T	ENST00000328585.4	+	0	137				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAAACTGCAGGCCAGAAGCCC	0.642													False	0	False	17:79612028	0	T	79612028	G	T	79612028	1	4	88	0	1	0	0	0	0	0	0	0	16717	1203	42	3		3	TSPAN10	17	79612028	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97690	79612028	1583182	17166	24878											
CCDC137	339230	broad.mit.edu	37	chr17	79637483	79637483	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaaaaagcaaaaaaagCgtgagtggaggcgggagggg	18	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79637483C>T	ENST00000329214.8	+	3	900	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	166										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCAAAAAAAGCGTGAGTGGAG	0.597													False	0	False	17:79637483	0	T	79637483	C	T	79637483	5	4	88	1	0	0	0	0	0	0	1	0	2791	782	27	1	507	1	CCDC137	17	79637483	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25455	79637483	1557727	17167	24879											
HGS	9146	broad.mit.edu	37	chr17	79662228	79662228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagactctcagcccattcCtccctctggtggccccttta	7	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79662228C>A	ENST00000329138.4	+	14	1289	c.1154C>A	c.(1153-1155)cCt>cAt	p.P385H		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	385	Interaction with SNX1 (By similarity).|Pro-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGCCCATTCCTCCCTCTGGT	0.637													False	0	True	17:79662228	0	A	79662228	C	A	79662228	3	1	88	1	0	0	0	0	1	0	0	0	7134	681	24	3	1208	3	HGS	17	79662228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24745	79662228	1532982	17168	24880											
HGS	9146	broad.mit.edu	37	chr17	79667816	79667816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggggagccagtcagtctCcatgggctaccagccttaca	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79667816C>T	ENST00000329138.4	+	20	2243	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	703	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGTCAGTCTCCATGGGCTAC	0.642													False	0	False	17:79667816	0	T	79667816	C	T	79667816	3	4	88	1	0	0	0	0	1	0	0	0	7134	855	30	2	2186	2	HGS	17	79667816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5588	79667816	1527394	17169	24881											
ARHGDIA	396	broad.mit.edu	37	chr17	79827105	79827105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatgccggacactatctctCggttaacctgcaggacccga	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79827105C>T	ENST00000269321.7	-	5	494	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	ARHGDIA_ENST00000584461.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.R120Q	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	120					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CACTATCTCTCGGTTAACCTG	0.642													False	0	True	17:79827105	0	T	79827105	C	T	79827105	3	4	88	1	0	0	0	0	1	0	0	0	892	884	31	1	263	1	ARHGDIA	17	79827105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159289	79827105	1368105	17170	24882											
PYCR1	5831	broad.mit.edu	37	chr17	79892866	79892866	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctcttccacctccgtgCagaagcccacgctgctcagc	9	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79892866C>A	ENST00000337943.5	-	4	918	c.476G>T	c.(475-477)tGc>tTc	p.C159F	PYCR1_ENST00000402252.2_Missense_Mutation_p.C186F|PYCR1_ENST00000403172.4_Missense_Mutation_p.C159F|PYCR1_ENST00000329875.8_Missense_Mutation_p.C159F|PYCR1_ENST00000577756.1_Missense_Mutation_p.C159F	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	159					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CACCTCCGTGCAGAAGCCCAC	0.697													False	0	False	17:79892866	0	A	79892866	C	A	79892866	3	1	88	1	0	0	0	0	1	0	0	0	12934	710	25	3	587	3	PYCR1	17	79892866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65761	79892866	1302344	17171	24883											
ASPSCR1	79058	broad.mit.edu	37	chr17	79973230	79973230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagcacgtggggacaggcCgggtaggctgcctggctcag	17	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79973230C>T	ENST00000306729.7	+	13	1730	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Intron|ASPSCR1_ENST00000580534.1_Intron	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	451							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGGGACAGGCCGGGTAGGCTG	0.672			T	TFE3	alveolar soft part sarcoma								False	0	True	17:79973230	0	T	79973230	C	T	79973230	3	4	88	1	0	0	0	0	1	0	0	0	1063	667	23	1		1	ASPSCR1	17	79973230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80364	79973230	1221980	17172	24884											
RAC3	5881	broad.mit.edu	37	chr17	79990867	79990867	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtgagcccggcctccttCgagaatgttcgtgccaaggt	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79990867C>T	ENST00000306897.4	+	4	408	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	90					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CGGCCTCCTTCGAGAATGTTC	0.617													False	0	False	17:79990867	0	T	79990867	C	T	79990867	2	4	88	1	0	0	0	0	0	0	0	1	13055	883	31	1		1	RAC3	17	79990867	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17637	79990867	1204343	17173	24885											
GPS1	2873	broad.mit.edu	37	chr17	80012478	80012478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccacgcggaagaaggCgctgctgaagctggagaagc	18	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80012478C>T	ENST00000392358.2	+	4	870	c.521C>T	c.(520-522)gCg>gTg	p.A174V	GPS1_ENST00000578552.1_Missense_Mutation_p.A134V|GPS1_ENST00000306823.6_Missense_Mutation_p.A138V|GPS1_ENST00000355130.2_Missense_Mutation_p.A174V|GPS1_ENST00000320548.4_Missense_Mutation_p.A118V	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	138					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGGAAGAAGGCGCTGCTGAAG	0.652													False	0	False	17:80012478	0	T	80012478	C	T	80012478	3	4	88	1	0	0	0	0	1	0	0	0	6779	768	27	1	584	1	GPS1	17	80012478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21611	80012478	1182732	17174	24886											
DUS1L	64118	broad.mit.edu	37	chr17	80019817	80019817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggacgctgcacccgacaGgggccccttctgctccttgg	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80019817G>T	ENST00000354321.7	-	5	1038	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	DUS1L_ENST00000306796.5_Missense_Mutation_p.L185M			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	185					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCACCCGACAGGGGCCCCTTC	0.657													False	0	True	17:80019817	0	T	80019817	G	T	80019817	3	4	88	1	0	0	0	0	1	0	0	0	4835	991	35	3	904	3	DUS1L	17	80019817	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7339	80019817	1175393	17175	24887											
DUS1L	64118	broad.mit.edu	37	chr17	80021381	80021381	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccactcgtcctgcagaaaGgcgccatagtgacctgcaag	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80021381G>T	ENST00000354321.7	-	3	845	c.360C>A	c.(358-360)gcC>gcA	p.A120A	DUS1L_ENST00000306796.5_Silent_p.A120A			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	120					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTGCAGAAAGGCGCCATAGT	0.602													False	0	True	17:80021381	0	T	80021381	G	T	80021381	2	4	88	1	0	0	0	0	0	0	0	1	4835	987	35	3		3	DUS1L	17	80021381	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1564	80021381	1173829	17176	24888											
FASN	2194	broad.mit.edu	37	chr17	80037394	80037394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaagctcagctcctggcGgtccaggccctggtggctct	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80037394G>A	ENST00000306749.2	-	42	7455	c.7237C>T	c.(7237-7239)Cgc>Tgc	p.R2413C	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2413	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGCTCCTGGCGGTCCAGGCCC	0.637													False	0	False	17:80037394	0	A	80037394	G	A	80037394	3	1	88	1	0	0	0	0	1	0	0	0	5723	1116	39	1	306	1	FASN	17	80037394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16013	80037394	1157816	17177	24889											
FASN	2194	broad.mit.edu	37	chr17	80038697	80038697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgcacggagttgagccGcatcagggtggggccctccg	16	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80038697G>A	ENST00000306749.2	-	39	6915	c.6697C>T	c.(6697-6699)Cgg>Tgg	p.R2233W	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2233	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GAGTTGAGCCGCATCAGGGTG	0.677													False	0	False	17:80038697	0	A	80038697	G	A	80038697	3	1	88	1	0	0	0	0	1	0	0	0	5723	1086	38	1	858	1	FASN	17	80038697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1303	80038697	1156513	17178	24890											
FASN	2194	broad.mit.edu	37	chr17	80039892	80039892	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggggcccacctgggagGccttcgtgccggcgtttctc	17	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039892G>A	ENST00000579758.1	-	5	685		c.e5+1		FASN_ENST00000306749.2_Silent_p.G2052G			P49327	FAS_HUMAN	fatty acid synthase						energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CACCTGGGAGGCCTTCGTGCC	0.677													False	0	False	17:80039892	0	A	80039892	G	A	80039892	5	1	88	1	0	0	0	0	0	0	1	0	5723	1190	42	2	1411	2	FASN	17	80039892	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1195	80039892	1155318	17179	24891											
FASN	2194	broad.mit.edu	37	chr17	80039903	80039903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgggaggccttcgtgccGgcgtttctcacagatacgct	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039903G>A	ENST00000306749.2	-	36	6363	c.6145C>T	c.(6145-6147)Cgg>Tgg	p.R2049W	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2049	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCTTCGTGCCGGCGTTTCTCA	0.657													False	0	False	17:80039903	0	A	80039903	G	A	80039903	3	1	88	1	0	0	0	0	1	0	0	0	5723	1115	39	1	1422	1	FASN	17	80039903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	80039903	1155307	17180	24892											
FASN	2194	broad.mit.edu	37	chr17	80042511	80042511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgggcatggcgcagcgagGagcagacccagcggatggag	19	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80042511G>A	ENST00000306749.2	-	27	4864	c.4646C>T	c.(4645-4647)tCc>tTc	p.S1549F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1549					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCGCAGCGAGGAGCAGACCCA	0.657													False	0	False	17:80042511	0	A	80042511	G	A	80042511	3	1	88	1	0	0	0	0	1	0	0	0	5723	1174	41	2	2957	2	FASN	17	80042511	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2608	80042511	1152699	17181	24893											
FASN	2194	broad.mit.edu	37	chr17	80045103	80045103	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccggccactgtgaccctcaGccacctgctcaccaccacgt	7	20	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80045103G>T	ENST00000306749.2	-	21	3468	c.3250C>A	c.(3250-3252)Ctg>Atg	p.L1084M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1084					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GTGACCCTCAGCCACCTGCTC	0.687													False	0	False	17:80045103	0	T	80045103	G	T	80045103	3	4	88	1	0	0	0	0	1	0	0	0	5723	962	34	3	4377	3	FASN	17	80045103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2592	80045103	1150107	17182	24894											
FASN	2194	broad.mit.edu	37	chr17	80045873	80045873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgacacctcgaaggcacgGgaggcctccaggagccgtac	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80045873G>A	ENST00000306749.2	-	18	3041	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	941					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGAAGGCACGGGAGGCCTCCA	0.687													False	0	True	17:80045873	0	A	80045873	G	A	80045873	2	1	88	1	0	0	0	0	0	0	0	1	5723	1219	43	2		2	FASN	17	80045873	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	770	80045873	1149337	17183	24895											
FASN	2194	broad.mit.edu	37	chr17	80047259	80047259	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgaactcaaacaccgggGcctggacatcgtgggagcct	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80047259G>A	ENST00000306749.2	-	13	2185	c.1967C>T	c.(1966-1968)gCc>gTc	p.A656V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	656	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AAACACCGGGGCCTGGACATC	0.637													False	0	True	17:80047259	0	A	80047259	G	A	80047259	5	1	88	1	0	0	0	0	0	0	1	0	5723	1217	42	2	5692	2	FASN	17	80047259	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1386	80047259	1147951	17184	24896											
FASN	2194	broad.mit.edu	37	chr17	80050687	80050687	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgaggggaaggtcacGcctgcggagggctcggctca	16	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80050687G>A	ENST00000306749.2	-	7	998	c.780C>T	c.(778-780)ggC>ggT	p.G260G		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	260	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGAAGGTCACGCCTGCGGAGG	0.667													False	0	False	17:80050687	0	A	80050687	G	A	80050687	5	1	88	1	0	0	0	0	0	0	1	0	5723	1101	38	1	6903	1	FASN	17	80050687	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3428	80050687	1144523	17185	24897											
CCDC57	284001	broad.mit.edu	37	chr17	80159511	80159511	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctctggctagcgcctGcctcagcttagctgcctcta	10	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159511G>A	ENST00000392347.1	-	2	346	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	CCDC57_ENST00000392343.3_Nonsense_Mutation_p.Q104*|CCDC57_ENST00000389641.4_Nonsense_Mutation_p.Q104*	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	104										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GCTAGCGCCTGCCTCAGCTTA	0.662													False	0	True	17:80159511	0	A	80159511	G	A	80159511	4	1	88	1	0	0	0	0	0	1	0	0	2848	1328	46	2	2501	2	CCDC57	17	80159511	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108824	80159511	1035699	17186	24898											
CCDC57	284001	broad.mit.edu	37	chr17	80159556	80159556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcgctcacctctgcccGcctggcctcttcccactccc	7	22	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159556G>A	ENST00000392347.1	-	2	301	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	CCDC57_ENST00000392343.3_Missense_Mutation_p.R89W|CCDC57_ENST00000389641.4_Missense_Mutation_p.R89W	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	89										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			ACCTCTGCCCGCCTGGCCTCT	0.642													False	0	True	17:80159556	0	A	80159556	G	A	80159556	3	1	88	1	0	0	0	0	1	0	0	0	2848	1086	38	1	2546	1	CCDC57	17	80159556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	80159556	1035654	17187	24899											
CCDC57	284001	broad.mit.edu	37	chr17	80159683	80159683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaccgcagtttcccctgCgcctcctccagctggctccg	10	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159683C>T	ENST00000392347.1	-	2	174	c.138G>A	c.(136-138)gcG>gcA	p.A46A	CCDC57_ENST00000392343.3_Silent_p.A46A|CCDC57_ENST00000389641.4_Silent_p.A46A	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	46										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTTTCCCCTGCGCCTCCTCCA	0.667													False	0	False	17:80159683	0	T	80159683	C	T	80159683	2	4	88	1	0	0	0	0	0	0	0	1	2848	755	27	1		1	CCDC57	17	80159683	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	80159683	1035527	17188	24900											
CSNK1D	1453	broad.mit.edu	37	chr17	80202665	80202665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggagagttctcatcggtGcacgacagactgaagaccac	11	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80202665G>A	ENST00000314028.6	-	9	1589	c.1240C>T	c.(1240-1242)Cac>Tac	p.H414Y	CSNK1D_ENST00000398519.5_Intron|CSNK1D_ENST00000392334.2_3'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	414					circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TCTCATCGGTGCACGACAGAC	0.567											OREG0024822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:80202665	0	A	80202665	G	A	80202665	3	1	88	1	0	0	0	0	1	0	0	0	3977	1319	46	2	11	2	CSNK1D	17	80202665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42982	80202665	992545	17189	24901											
CD7	924	broad.mit.edu	37	chr17	80274664	80274664	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagtcaggttgtcctgggaCcctgagaagtcgatgcggcc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80274664C>A	ENST00000584284.1	-	2	357	c.276G>T	c.(274-276)ggG>ggT	p.G92G	CD7_ENST00000583376.1_5'UTR|CD7_ENST00000312648.3_Silent_p.G92G|CD7_ENST00000578509.1_5'UTR			P09564	CD7_HUMAN	CD7 molecule	92	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TGTCCTGGGACCCTGAGAAGT	0.622													False	0	True	17:80274664	0	A	80274664	C	A	80274664	2	1	88	1	0	0	0	0	0	0	0	1	3055	494	18	3		3	CD7	17	80274664	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71999	80274664	920546	17190	24902											
SECTM1	6398	broad.mit.edu	37	chr17	80282651	80282651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgctctcctgcccgtgGgcacgcagcttgatgttgac	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80282651G>A	ENST00000269389.3	-	3	560	c.210C>T	c.(208-210)gcC>gcT	p.A70A	SECTM1_ENST00000580437.1_Silent_p.A70A	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	70					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CCTGCCCGTGGGCACGCAGCT	0.607													False	0	True	17:80282651	0	A	80282651	G	A	80282651	2	1	88	1	0	0	0	0	0	0	0	1	14089	1219	43	2		2	SECTM1	17	80282651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7987	80282651	912559	17191	24903											
UTS2R	2837	broad.mit.edu	37	chr17	80332627	80332627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatcttcacgctgaccGtcatgagcagcgagcgctac	10	15	3	2	rs114260139	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80332627G>A	ENST00000313135.2	+	1	475	c.427G>A	c.(427-429)Gtc>Atc	p.V143I		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	143						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CACGCTGACCGTCATGAGCAG	0.677													False	0	False	17:80332627	0	A	80332627	G	A	80332627	3	1	88	1	0	0	0	0	1	0	0	0	17190	1145	40	1	429	1	UTS2R	17	80332627	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49976	80332627	862583	17192	24904											
HEXDC	284004	broad.mit.edu	37	chr17	80391663	80391663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggtcctggagctacacCcaggcgcccagcggctgcac	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80391663C>T	ENST00000337014.6	+	5	886	c.412C>T	c.(412-414)Cca>Tca	p.P138S	HEXDC_ENST00000327949.9_Missense_Mutation_p.P138S|HEXDC_ENST00000577944.1_Missense_Mutation_p.P138S	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	138					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGAGCTACACCCAGGCGCCCA	0.627													False	0	True	17:80391663	0	T	80391663	C	T	80391663	3	4	88	1	0	0	0	0	1	0	0	0	7122	623	22	2	426	2	HEXDC	17	80391663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59036	80391663	803547	17193	24905											
HEXDC	284004	broad.mit.edu	37	chr17	80400400	80400400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacactcagttcctgagggcCctgggcagcccctgggggag	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80400400C>T	ENST00000337014.6	+	12	2164	c.1690C>T	c.(1690-1692)Cct>Tct	p.P564S	HEXDC_ENST00000327949.9_3'UTR|HEXDC_ENST00000577944.1_Silent_p.A536A	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	478					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCCTGAGGGCCCTGGGCAGCC	0.597													False	0	True	17:80400400	0	T	80400400	C	T	80400400	3	4	88	1	0	0	0	0	1	0	0	0	7122	623	22	2	1732	2	HEXDC	17	80400400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8737	80400400	794810	17194	24906											
C17orf62	79415	broad.mit.edu	37	chr17	80402326	80402326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcccacagccttacctgCggtggcccatgactgcactc	9	16	0	1	rs143814965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80402326C>T	ENST00000437807.2	-	7	757	c.440G>A	c.(439-441)cGc>cAc	p.R147H	C17orf62_ENST00000583617.1_Missense_Mutation_p.R147H|C17orf62_ENST00000342572.8_Missense_Mutation_p.R23H|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000585064.1_Missense_Mutation_p.R147H|C17orf62_ENST00000434650.2_Missense_Mutation_p.R133H|C17orf62_ENST00000578913.1_Missense_Mutation_p.R147H|C17orf62_ENST00000578919.1_Missense_Mutation_p.R147H|C17orf62_ENST00000306645.5_Missense_Mutation_p.R147H|C17orf62_ENST00000577436.1_Missense_Mutation_p.R133H|C17orf62_ENST00000585080.1_Missense_Mutation_p.R147H|C17orf62_ENST00000577732.1_Missense_Mutation_p.R147H	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	147						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCTTACCTGCGGTGGCCCAT	0.632													False	0	False	17:80402326	0	T	80402326	C	T	80402326	3	4	88	1	0	0	0	0	1	0	0	0	1882	768	27	1	131	1	C17orf62	17	80402326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1926	80402326	792884	17195	24907											
ZNF750	79755	broad.mit.edu	37	chr17	80788752	80788752	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctccgttcacaacattgaGgctagaagaagccaagaaaa	9	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80788752G>T	ENST00000269394.3	-	3	2271	c.1438C>A	c.(1438-1440)Ctc>Atc	p.L480I	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Splice_Site_p.L81I	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	480						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACAACATTGAGGCTAGAAGAA	0.572													False	0	False	17:80788752	0	T	80788752	G	T	80788752	5	4	88	1	0	0	0	0	0	0	1	0	18214	1014	35	3	737	3	ZNF750	17	80788752	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	386426	80788752	406458	17196	24908											
ZNF750	79755	broad.mit.edu	37	chr17	80790046	80790046	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcttcgagtcgaaggcagaGagtccatttgcgacagactt	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80790046G>T	ENST00000269394.3	-	2	1118	c.285C>A	c.(283-285)ctC>ctA	p.L95L	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	95						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CGAAGGCAGAGAGTCCATTTG	0.567													False	0	True	17:80790046	0	T	80790046	G	T	80790046	2	4	88	1	0	0	0	0	0	0	0	1	18214	929	33	3		3	ZNF750	17	80790046	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1294	80790046	405164	17197	24909											
TBCD	6904	broad.mit.edu	37	chr17	80887372	80887372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgggcggcttgacggagtCgacggtgaggaggcgtcggg	21	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80887372C>T	ENST00000355528.4	+	32	3117	c.2987C>T	c.(2986-2988)tCg>tTg	p.S996L	TBCD_ENST00000539345.2_Missense_Mutation_p.S996L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	996					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTGACGGAGTCGACGGTGAGG	0.662													False	0	False	17:80887372	0	T	80887372	C	T	80887372	3	4	88	1	0	0	0	0	1	0	0	0	15715	893	31	1	3113	1	TBCD	17	80887372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97326	80887372	307838	17198	24910											
USP14	9097	broad.mit.edu	37	chr18	163369	163369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatacagatgaacctccAatggtattcaaggctcagct	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:163369A>G	ENST00000261601.7	+	2	169	c.78A>G	c.(76-78)ccA>ccG	p.P26P	USP14_ENST00000383589.2_Silent_p.P26P|USP14_ENST00000400266.3_Silent_p.P26P|USP14_ENST00000582707.1_Silent_p.P26P	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)		Ubiquitin-like.				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATGAACCTCCAATGGTATTCA	0.373													False	0	False	18:163369	0	G	163369	A	G	163369	2	3	88	1	0	0	0	0	0	0	0	1	17129	117	5	4		4	USP14	18	163369	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08		163369	77913879	17199	24911											
USP14	9097	broad.mit.edu	37	chr18	197615	197615	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctttttttacattacaGgatgctaatgaatgttggat	8	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:197615G>T	ENST00000261601.7	+	8	685		c.e8-1		USP14_ENST00000383589.2_Splice_Site|USP14_ENST00000400266.3_Splice_Site|USP14_ENST00000582707.1_Splice_Site	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTACATTACAGGATGCTAATG	0.338													False	0	False	18:197615	0	T	197615	G	T	197615	5	4	88	1	0	0	0	0	0	0	1	0	17129	1014	35	3	624	3	USP14	18	197615	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34246	197615	77879633	17200	24912											
THOC1	9984	broad.mit.edu	37	chr18	265360	265360	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtacattttttttcattTtcactattaaaaacaaaaga	4	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:265360T>G	ENST00000261600.6	-	3	139	c.132A>C	c.(130-132)gaA>gaC	p.E44D	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	44					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTTTTTCATTTTCACTATTAA	0.299													False	0	True	18:265360	0	G	265360	T	G	265360	3	3	88	1	0	0	0	0	1	0	0	0	15946	1838	64	4	1917	4	THOC1	18	265360	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	67745	265360	77811888	17201	24913											
THOC1	9984	broad.mit.edu	37	chr18	265516	265516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtttttgttgttcaaggcCtctctggtagacttctaaaa	8	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:265516C>A	ENST00000261600.6	-	2	76	c.69G>T	c.(67-69)gaG>gaT	p.E23D	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	23					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TGTTCAAGGCCTCTCTGGTAG	0.323													False	0	True	18:265516	0	A	265516	C	A	265516	3	1	88	1	0	0	0	0	1	0	0	0	15946	680	24	3	1984	3	THOC1	18	265516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156	265516	77811732	17202	24914											
COLEC12	81035	broad.mit.edu	37	chr18	335154	335154	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggctcccccttctctcctttCtgtcccttgttgccagttgg	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:335154C>A	ENST00000400256.3	-	6	1611	c.1404G>T	c.(1402-1404)caG>caT	p.Q468H		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	468	Collagen-like 1.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCTCTCCTTTCTGTCCCTTGT	0.617													False	0	True	18:335154	0	A	335154	C	A	335154	3	1	88	1	0	0	0	0	1	0	0	0	3735	912	32	3	844	3	COLEC12	18	335154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69638	335154	77742094	17203	24915											
COLEC12	81035	broad.mit.edu	37	chr18	335176	335176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccttgttgccagttgggCcagggggtccctgggatcct	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:335176C>T	ENST00000400256.3	-	6	1589	c.1382G>A	c.(1381-1383)gGc>gAc	p.G461D		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	461	Collagen-like 1.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCCAGTTGGGCCAGGGGGTCC	0.592													False	0	True	18:335176	0	T	335176	C	T	335176	3	4	88	1	0	0	0	0	1	0	0	0	3735	739	26	2	866	2	COLEC12	18	335176	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	335176	77742072	17204	24916											
COLEC12	81035	broad.mit.edu	37	chr18	480749	480749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcacctcctcctcctctgCgaagtcgtctgtgagagaag	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:480749C>T	ENST00000400256.3	-	2	223	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	6					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCCTCCTCTGCGAAGTCGTCT	0.552													False	0	False	18:480749	0	T	480749	C	T	480749	3	4	88	1	0	0	0	0	1	0	0	0	3735	768	27	1	2248	1	COLEC12	18	480749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145573	480749	77596499	17205	24917											
CETN1	1068	broad.mit.edu	37	chr18	580753	580753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcaggctctttgatgaCgatgagaccgggaagatctc	12	10	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:580753C>T	ENST00000327228.3	+	1	387	c.345C>T	c.(343-345)gaC>gaT	p.D115D		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	115	EF-hand 3.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TCTTTGATGACGATGAGACCG	0.527													False	0	False	18:580753	0	T	580753	C	T	580753	2	4	88	1	0	0	0	0	0	0	0	1	3297	535	19	1		1	CETN1	18	580753	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100004	580753	77496495	17206	24918											
TYMS	7298	broad.mit.edu	37	chr18	670816	670816	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggtgtgcctttcaacatCgccagctacgccctgctcac	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:670816C>T	ENST00000323274.10	+	5	820	c.681C>T	c.(679-681)atC>atT	p.I227I	TYMS_ENST00000323224.7_Silent_p.I193I|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323250.5_Silent_p.I144I	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	227					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	p.I227I(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CTTTCAACATCGCCAGCTACG	0.587													False	0	False	18:670816	0	T	670816	C	T	670816	2	4	88	1	0	0	0	0	0	0	0	1	16896	874	31	1		1	TYMS	18	670816	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90063	670816	77406432	17207	24919											
TYMS	7298	broad.mit.edu	37	chr18	672975	672975	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaatccgcatccaactaTtaaaatggaaatggctgttt	7	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:672975T>G	ENST00000323274.10	+	7	1059	c.920T>G	c.(919-921)aTt>aGt	p.I307S	TYMS_ENST00000323224.7_Missense_Mutation_p.I273S|ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000383578.3_3'UTR|TYMS_ENST00000323250.5_Missense_Mutation_p.I224S	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	307					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CATCCAACTATTAAAATGGAA	0.418													False	0	False	18:672975	0	G	672975	T	G	672975	3	3	88	1	0	0	0	0	1	0	0	0	16896	1493	52	4	946	4	TYMS	18	672975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2159	672975	77404273	17208	24920											
ENOSF1	55556	broad.mit.edu	37	chr18	706481	706481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaactcaccaacttcagtgCcttttcccagagtgaaggta	7	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:706481C>T	ENST00000383578.3	-	2	256	c.52G>A	c.(52-54)Gca>Aca	p.A18T	ENOSF1_ENST00000539164.1_Missense_Mutation_p.G61D|ENOSF1_ENST00000251101.7_Missense_Mutation_p.G61D|ENOSF1_ENST00000340116.7_Missense_Mutation_p.G82D|ENOSF1_ENST00000580982.1_Missense_Mutation_p.G61D	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	0					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						AACTTCAGTGCCTTTTCCCAG	0.418													False	0	False	18:706481	0	T	706481	C	T	706481	3	4	88	1	0	0	0	0	1	0	0	0	5157	739	26	2	1209	2	ENOSF1	18	706481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33506	706481	77370767	17209	24921											
YES1	7525	broad.mit.edu	37	chr18	756664	756664	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtgtcatggaaagactgCtgaaattaactgctgttccc	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:756664C>A	ENST00000584307.1	-	2	334	c.164G>T	c.(163-165)aGc>aTc	p.S55I	YES1_ENST00000314574.4_Missense_Mutation_p.S55I|YES1_ENST00000577611.1_5'UTR|YES1_ENST00000577961.1_Missense_Mutation_p.S60I			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	55					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GGAAAGACTGCTGAAATTAAC	0.488													False	0	False	18:756664	0	A	756664	C	A	756664	3	1	88	1	0	0	0	0	1	0	0	0	17558	797	28	3	1511	3	YES1	18	756664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50183	756664	77320584	17210	24922											
SMCHD1	23347	broad.mit.edu	37	chr18	2707808	2707808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatttttgactcataggtgCgttaagaattgaaatactga	8	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2707808C>T	ENST00000320876.6	+	17	2488	c.2150C>T	c.(2149-2151)gCg>gTg	p.A717V	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.A717V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	717					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTCATAGGTGCGTTAAGAATT	0.363													False	0	False	18:2707808	0	T	2707808	C	T	2707808	3	4	88	1	0	0	0	0	1	0	0	0	14868	768	27	1	2216	1	SMCHD1	18	2707808	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1951144	2707808	75369440	17211	24923											
EMILIN2	84034	broad.mit.edu	37	chr18	2890564	2890564	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatctttgtaacagataatGaacccagccaattctcagag	6	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2890564G>A	ENST00000254528.3	+	4	598	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	147					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AACAGATAATGAACCCAGCCA	0.433													False	0	False	18:2890564	0	A	2890564	G	A	2890564	3	1	88	1	0	0	0	0	1	0	0	0	5126	1291	45	2	453	2	EMILIN2	18	2890564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	182756	2890564	75186684	17212	24924											
LPIN2	9663	broad.mit.edu	37	chr18	2920375	2920375	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgggcagggaaaagcggaAttctgctccttactgagaag	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2920375A>G	ENST00000261596.4	-	20	2845	c.2607T>C	c.(2605-2607)aaT>aaC	p.N869N		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	869					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GAAAAGCGGAATTCTGCTCCT	0.557													False	0	False	18:2920375	0	G	2920375	A	G	2920375	2	3	88	1	0	0	0	0	0	0	0	1	8981	98	4	4		4	LPIN2	18	2920375	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29811	2920375	75156873	17213	24925											
LPIN2	9663	broad.mit.edu	37	chr18	2937906	2937906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatggtacagacagtgtcttCcatggaagcatccttctcaa	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2937906C>T	ENST00000261596.4	-	7	1190	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	318					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ACAGTGTCTTCCATGGAAGCA	0.483													False	0	False	18:2937906	0	T	2937906	C	T	2937906	3	4	88	1	0	0	0	0	1	0	0	0	8981	864	30	2	1794	2	LPIN2	18	2937906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17531	2937906	75139342	17214	24926											
MYOM1	8736	broad.mit.edu	37	chr18	3154969	3154969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caataaaatatccgagaataGgactccctccatcgacagct	6	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3154969G>T	ENST00000356443.4	-	11	1952	c.1619C>A	c.(1618-1620)cCt>cAt	p.P540H	MYOM1_ENST00000261606.7_Missense_Mutation_p.P540H|MYOM1_ENST00000400569.3_Missense_Mutation_p.P540H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	540	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCGAGAATAGGACTCCCTCC	0.438													False	0	False	18:3154969	0	T	3154969	G	T	3154969	3	4	88	1	0	0	0	0	1	0	0	0	10158	1000	35	3	3550	3	MYOM1	18	3154969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217063	3154969	74922279	17215	24927											
MYOM1	8736	broad.mit.edu	37	chr18	3173962	3173962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggcatggtggaagccccaGcgtggaagcgagtctcatca	16	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3173962G>T	ENST00000356443.4	-	8	1481	c.1148C>A	c.(1147-1149)gCt>gAt	p.A383D	MYOM1_ENST00000261606.7_Missense_Mutation_p.A383D|MYOM1_ENST00000400569.3_Missense_Mutation_p.A383D	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	383						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGAAGCCCCAGCGTGGAAGCG	0.408													False	0	False	18:3173962	0	T	3173962	G	T	3173962	3	4	88	1	0	0	0	0	1	0	0	0	10158	971	34	3	4033	3	MYOM1	18	3173962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18993	3173962	74903286	17216	24928											
MYOM1	8736	broad.mit.edu	37	chr18	3193949	3193949	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctaacagcagactggaatCtgtaagtctgaaataaacca	7	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3193949C>T	ENST00000356443.4	-	3	631	c.298G>A	c.(298-300)Gat>Aat	p.D100N	MYOM1_ENST00000261606.7_Missense_Mutation_p.D100N|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.D100N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	100						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGACTGGAATCTGTAAGTCTG	0.373													False	0	False	18:3193949	0	T	3193949	C	T	3193949	3	4	88	1	0	0	0	0	1	0	0	0	10158	913	32	2	4903	2	MYOM1	18	3193949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19987	3193949	74883299	17217	24929											
DLGAP1	9229	broad.mit.edu	37	chr18	3581920	3581920	+	Missense_Mutation	SNP	T	T	C													tttcttaaagtggtccttctTcctgtcctccgtggtgacgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3581920T>C	ENST00000315677.3	-	8	2513	c.1918A>G	c.(1918-1920)Aag>Gag	p.K640E	DLGAP1_ENST00000400149.3_Missense_Mutation_p.K330E|DLGAP1_ENST00000534970.1_Missense_Mutation_p.K324E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.K640E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.K356E|DLGAP1_ENST00000400155.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000539435.1_Missense_Mutation_p.K348E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000400147.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000581527.1_Missense_Mutation_p.K640E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	640					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGGTCCTTCTTCCTGTCCTCC	0.488													False	0	False	18:3581920	0	C	3581920	T	C	3581920	3	2	88	1	0	0	0	0	1	0	0	0	4589	1792	62	4	1039	4	DLGAP1	18	3581920	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	387971	3581920	74495328	17218	24930	263	2									
DLGAP1	9229	broad.mit.edu	37	chr18	3581922	3581922	+	Missense_Mutation	SNP	C	C	A													tcttaaagtggtccttcttcCtgtcctccgtggtgacggtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3581922C>A	ENST00000315677.3	-	8	2511	c.1916G>T	c.(1915-1917)aGg>aTg	p.R639M	DLGAP1_ENST00000400149.3_Missense_Mutation_p.R329M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R323M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R639M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R355M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R347M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R639M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	639					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTCCTTCTTCCTGTCCTCCgt	0.493													False	0	False	18:3581922	0	A	3581922	C	A	3581922	3	1	88	1	0	0	0	0	1	0	0	0	4589	681	24	3	1041	3	DLGAP1	18	3581922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2	3581922	74495326	17219	24931	263	2									
DLGAP1	9229	broad.mit.edu	37	chr18	3814267	3814267	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccctgtccattcatcttGtggaacctattcagatagaa	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3814267G>A	ENST00000315677.3	-	5	1559	c.964C>T	c.(964-966)Caa>Taa	p.Q322*	DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000400149.3_Nonsense_Mutation_p.Q30*|DLGAP1_ENST00000534970.1_Nonsense_Mutation_p.Q34*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000400150.3_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000400155.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000539435.1_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000581699.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000400145.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000400147.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.Q322*	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	322					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CATTCATCTTGTGGAACCTAT	0.353													False	0	False	18:3814267	0	A	3814267	G	A	3814267	4	1	88	1	0	0	0	0	0	1	0	0	4589	1386	48	2	2005	2	DLGAP1	18	3814267	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	232345	3814267	74262981	17220	24932											
DLGAP1	9229	broad.mit.edu	37	chr18	3879744	3879744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctgagtggcagctgccGctcgaactggtccagcaggt	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3879744G>A	ENST00000315677.3	-	4	920	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	DLGAP1_ENST00000515196.2_Missense_Mutation_p.R109W|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R109W|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R109W	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	109					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGCAGCTGCCGCTCGAACTGG	0.687													False	0	False	18:3879744	0	A	3879744	G	A	3879744	3	1	88	1	0	0	0	0	1	0	0	0	4589	1086	38	1	2703	1	DLGAP1	18	3879744	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65477	3879744	74197504	17221	24933											
EPB41L3	23136	broad.mit.edu	37	chr18	5415823	5415823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgaggtacacacctcttcCtctgaactgtcactcgggtc	9	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5415823C>A	ENST00000341928.2	-	13	2401	c.2061G>T	c.(2059-2061)gaG>gaT	p.E687D	EPB41L3_ENST00000342933.3_Missense_Mutation_p.E687D|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	687	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ACACCTCTTCCTCTGAACTGT	0.567													False	0	False	18:5415823	0	A	5415823	C	A	5415823	3	1	88	1	0	0	0	0	1	0	0	0	5186	680	24	3	1242	3	EPB41L3	18	5415823	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1536079	5415823	72661425	17222	24934											
EPB41L3	23136	broad.mit.edu	37	chr18	5428405	5428405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttattcgcagccggtcGcgatatatcaacagaccact	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5428405G>A	ENST00000341928.2	-	9	1312	c.972C>T	c.(970-972)cgC>cgT	p.R324R	EPB41L3_ENST00000342933.3_Silent_p.R324R|EPB41L3_ENST00000544123.1_Silent_p.R324R|EPB41L3_ENST00000400111.3_Silent_p.R324R|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Silent_p.R324R	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	324	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCAGCCGGTCGCGATATATCA	0.413													False	0	False	18:5428405	0	A	5428405	G	A	5428405	2	1	88	1	0	0	0	0	0	0	0	1	5186	1074	38	1		1	EPB41L3	18	5428405	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12582	5428405	72648843	17223	24935											
TMEM200C	645369	broad.mit.edu	37	chr18	5891977	5891977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcctcttcttggctttcCgcttgcgcttgggtatctgg	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5891977C>T	ENST00000581347.2	-	3	731	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R29Q			A6NKL6	T200C_HUMAN	transmembrane protein 200C							integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTTGGCTTTCCGCTTGCGCTT	0.612													False	0	False	18:5891977	0	T	5891977	C	T	5891977	3	4	88	1	0	0	0	0	1	0	0	0	16207	652	23	1	1783	1	TMEM200C	18	5891977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463572	5891977	72185271	17224	24936											
L3MBTL4	91133	broad.mit.edu	37	chr18	5969448	5969448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtcagccacgcctggaaGcaacttgcagtgttgctccc	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5969448G>A	ENST00000284898.6	-	18	1785	c.1585C>T	c.(1585-1587)Ctt>Ttt	p.L529F	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.L529F|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.L333F|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.L520F	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	529					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACGCCTGGAAGCAACTTGCAG	0.647													False	0	False	18:5969448	0	A	5969448	G	A	5969448	3	1	88	1	0	0	0	0	1	0	0	0	8645	971	34	2	298	2	L3MBTL4	18	5969448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77471	5969448	72107800	17225	24937											
L3MBTL4	91133	broad.mit.edu	37	chr18	6263998	6263998	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgttctttcaagtacCactcccaagaccatgctccc	4	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6263998C>T	ENST00000400104.3	-	5	367	c.167G>A	c.(166-168)tGg>tAg	p.W56*	L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000284898.6_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.W56*			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	56					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTTCAAGTACCACTCCCAAGA	0.433													False	0	False	18:6263998	0	T	6263998	C	T	6263998	4	4	88	1	0	0	0	0	0	1	0	0	8645	595	21	2	1768	2	L3MBTL4	18	6263998	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294550	6263998	71813250	17226	24938											
ARHGAP28	79822	broad.mit.edu	37	chr18	6868198	6868198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcattccaatggatcacCggagcctggacagccagttc	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6868198C>T	ENST00000419673.2	+	5	516	c.299C>T	c.(298-300)cCg>cTg	p.P100L	ARHGAP28_ENST00000531294.1_Missense_Mutation_p.P95L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.P100L|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.P259L|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.P82L|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.P259L|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.P207L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.P100L	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	82					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AATGGATCACCGGAGCCTGGA	0.463													False	0	False	18:6868198	0	T	6868198	C	T	6868198	3	4	88	1	0	0	0	0	1	0	0	0	879	652	23	1	313	1	ARHGAP28	18	6868198	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	604200	6868198	71209050	17227	24939											
LAMA1	284217	broad.mit.edu	37	chr18	6943388	6943388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccagcaccattgttgAcatggaacaagacctaaaag	8	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6943388A>G	ENST00000389658.3	-	62	8951	c.8858T>C	c.(8857-8859)gTc>gCc	p.V2953A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2953	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCATTGTTGACATGGAACAA	0.408													False	0	False	18:6943388	0	G	6943388	A	G	6943388	3	3	88	1	0	0	0	0	1	0	0	0	8656	275	10	4	377	4	LAMA1	18	6943388	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75190	6943388	71133860	17228	24940											
LAMA1	284217	broad.mit.edu	37	chr18	6947173	6947173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacccaccttgccgtccaCaagctctagtccaatggcat	7	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6947173C>T	ENST00000389658.3	-	61	8926	c.8833G>A	c.(8833-8835)Gtg>Atg	p.V2945M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2945	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCCGTCCACAAGCTCTAGT	0.522													False	0	False	18:6947173	0	T	6947173	C	T	6947173	3	4	88	1	0	0	0	0	1	0	0	0	8656	478	17	2	406	2	LAMA1	18	6947173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3785	6947173	71130075	17229	24941											
LAMA1	284217	broad.mit.edu	37	chr18	6948455	6948455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcctgggccactgcgTagcacctgttcaccgtgaag	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6948455T>C	ENST00000389658.3	-	60	8750	c.8657A>G	c.(8656-8658)tAc>tGc	p.Y2886C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2886					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCACTGCGTAGCACCTGTT	0.542													False	0	False	18:6948455	0	C	6948455	T	C	6948455	3	2	88	1	0	0	0	0	1	0	0	0	8656	1638	57	4	586	4	LAMA1	18	6948455	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1282	6948455	71128793	17230	24942											
LAMA1	284217	broad.mit.edu	37	chr18	6973184	6973184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagctcatttcctttacacTcagtgaaccaatgtttccaa	5	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6973184T>C	ENST00000389658.3	-	47	6739	c.6646A>G	c.(6646-6648)Agt>Ggt	p.S2216G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2216	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTTTACACTCAGTGAACCA	0.378													False	0	False	18:6973184	0	C	6973184	T	C	6973184	3	2	88	1	0	0	0	0	1	0	0	0	8656	1551	54	4	2649	4	LAMA1	18	6973184	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24729	6973184	71104064	17231	24943											
LAMA1	284217	broad.mit.edu	37	chr18	7013955	7013955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacccaaggaacactgatcGcaggcccggccaccaaattt	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7013955G>A	ENST00000389658.3	-	23	3315	c.3222C>T	c.(3220-3222)tgC>tgT	p.C1074C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1074	Laminin EGF-like 12.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACACTGATCGCAGGCCCGGC	0.597													False	0	False	18:7013955	0	A	7013955	G	A	7013955	2	1	88	1	0	0	0	0	0	0	0	1	8656	1079	38	1		1	LAMA1	18	7013955	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40771	7013955	71063293	17232	24944											
LAMA1	284217	broad.mit.edu	37	chr18	7015724	7015724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgacagtgctcacctgGcaccccacctccgcatcgta	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7015724G>A	ENST00000389658.3	-	22	3216	c.3123C>T	c.(3121-3123)tgC>tgT	p.C1041C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1041	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTCACCTGGCACCCCACCT	0.512													False	0	False	18:7015724	0	A	7015724	G	A	7015724	2	1	88	1	0	0	0	0	0	0	0	1	8656	1195	42	2		2	LAMA1	18	7015724	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1769	7015724	71061524	17233	24945											
LAMA1	284217	broad.mit.edu	37	chr18	7034541	7034541	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgtgtcacattggcaAggacagtcatcagctggtca	11	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7034541A>G	ENST00000389658.3	-	14	2081	c.1988T>C	c.(1987-1989)cTt>cCt	p.L663P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	663	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACATTGGCAAGGACAGTCAT	0.408													False	0	False	18:7034541	0	G	7034541	A	G	7034541	3	3	88	1	0	0	0	0	1	0	0	0	8656	72	3	4	7439	4	LAMA1	18	7034541	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18817	7034541	71042707	17234	24946											
LAMA1	284217	broad.mit.edu	37	chr18	7043403	7043403	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttattgtgacaattacaTgctaggagaatatttttaac	7	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7043403T>C	ENST00000389658.3	-	8	1071	c.978A>G	c.(976-978)gcA>gcG	p.A326A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	326	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACAATTACATGCTAGGAGAA	0.338													False	0	False	18:7043403	0	C	7043403	T	C	7043403	5	2	88	1	0	0	0	0	0	0	1	0	8656	1478	51	4	8473	4	LAMA1	18	7043403	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8862	7043403	71033845	17235	24947											
LRRC30	339291	broad.mit.edu	37	chr18	7231272	7231272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcggtccctgctgaagCggggcatgcaccacgtcagc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7231272C>T	ENST00000383467.2	+	1	150	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	46										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGCTGAAGCGGGGCATGCA	0.597													False	0	True	18:7231272	0	T	7231272	C	T	7231272	3	4	88	1	0	0	0	0	1	0	0	0	9047	759	27	1	138	1	LRRC30	18	7231272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187869	7231272	70845976	17236	24948											
PTPRM	5797	broad.mit.edu	37	chr18	7888369	7888369	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtactttctggcctaacttTtatcaggtatgtgctttctt	7	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7888369T>G	ENST00000332175.8	+	3	1499	c.462T>G	c.(460-462)ttT>ttG	p.F154L	PTPRM_ENST00000580170.1_Missense_Mutation_p.F154L|PTPRM_ENST00000400053.4_Missense_Mutation_p.F92L|PTPRM_ENST00000400060.4_Missense_Mutation_p.F154L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	154	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGCCTAACTTTTATCAGGTAT	0.348													False	0	True	18:7888369	0	G	7888369	T	G	7888369	3	3	88	1	0	0	0	0	1	0	0	0	12885	1838	64	4	472	4	PTPRM	18	7888369	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	657097	7888369	70188879	17237	24949											
PTPRM	5797	broad.mit.edu	37	chr18	7926650	7926650	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgcagtgccatcggcaGgaccgtggcaggagacaggc	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7926650G>T	ENST00000332175.8	+	5	1669	c.632G>T	c.(631-633)aGg>aTg	p.R211M	PTPRM_ENST00000580170.1_Missense_Mutation_p.R211M|PTPRM_ENST00000400053.4_Missense_Mutation_p.R149M|PTPRM_ENST00000400060.4_Missense_Mutation_p.R211M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	211	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCCATCGGCAGGACCGTGGCA	0.507													False	0	False	18:7926650	0	T	7926650	G	T	7926650	3	4	88	1	0	0	0	0	1	0	0	0	12885	1000	35	3	650	3	PTPRM	18	7926650	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38281	7926650	70150598	17238	24950											
PTPRM	5797	broad.mit.edu	37	chr18	8069961	8069961	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagagggccggaaggaaagCcaagaactcatagtgcagac	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8069961C>A	ENST00000332175.8	+	8	2447	c.1410C>A	c.(1408-1410)agC>agA	p.S470R	PTPRM_ENST00000580170.1_Missense_Mutation_p.S470R|PTPRM_ENST00000444013.1_Missense_Mutation_p.S257R|PTPRM_ENST00000400053.4_Missense_Mutation_p.S408R|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400060.4_Missense_Mutation_p.S470R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	470	Fibronectin type-III 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGAAGGAAAGCCAAGAACTCA	0.423													False	0	False	18:8069961	0	A	8069961	C	A	8069961	3	1	88	1	0	0	0	0	1	0	0	0	12885	738	26	3	1440	3	PTPRM	18	8069961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143311	8069961	70007287	17239	24951											
PTPRM	5797	broad.mit.edu	37	chr18	8113534	8113534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgaagaactaaaaagaCgacagaaatcttaaagtgct	7	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8113534C>T	ENST00000332175.8	+	12	2944	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	PTPRM_ENST00000580170.1_Missense_Mutation_p.T636M|PTPRM_ENST00000444013.1_Missense_Mutation_p.T423M|PTPRM_ENST00000400053.4_Missense_Mutation_p.T574M|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400060.4_Missense_Mutation_p.T636M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	636	Fibronectin type-III 4.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACTAAAAAGACGACAGAAATC	0.388													False	0	False	18:8113534	0	T	8113534	C	T	8113534	3	4	88	1	0	0	0	0	1	0	0	0	12885	536	19	1	1953	1	PTPRM	18	8113534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43573	8113534	69963714	17240	24952											
PTPRM	5797	broad.mit.edu	37	chr18	8244161	8244161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcagggcacaaactgCgacgaggctttctcattcat	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8244161C>T	ENST00000332175.8	+	15	3443	c.2406C>T	c.(2404-2406)tgC>tgT	p.C802C	PTPRM_ENST00000580170.1_Silent_p.C802C|PTPRM_ENST00000444013.1_Silent_p.C589C|PTPRM_ENST00000400053.4_Silent_p.C740C|PTPRM_ENST00000400060.4_Silent_p.C802C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	802					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCACAAACTGCGACGAGGCTT	0.483													False	0	False	18:8244161	0	T	8244161	C	T	8244161	2	4	88	1	0	0	0	0	0	0	0	1	12885	776	27	1		1	PTPRM	18	8244161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130627	8244161	69833087	17241	24953											
PTPRM	5797	broad.mit.edu	37	chr18	8252488	8252488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtatcttcttaaaagtgCcaataaatggtaagttcccc	6	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8252488C>T	ENST00000580170.1	+	18	3594	c.2557C>T	c.(2557-2559)Cca>Tca	p.P853S	PTPRM_ENST00000444013.1_Intron|PTPRM_ENST00000400053.4_Intron|PTPRM_ENST00000400060.4_Intron|PTPRM_ENST00000332175.8_Intron	NM_001105244.1	NP_001098714.1	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	842					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTAAAAGTGCCAATAAATGG	0.428													False	0	False	18:8252488	0	T	8252488	C	T	8252488	3	4	88	1	0	0	0	0	1	0	0	0	12885	739	26	2	2627	2	PTPRM	18	8252488	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8327	8252488	69824760	17242	24954											
PTPRM	5797	broad.mit.edu	37	chr18	8380330	8380330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttttatagtcacccagCatcctttgccaaacacagtg	6	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8380330C>T	ENST00000332175.8	+	27	4821	c.3784C>T	c.(3784-3786)Cat>Tat	p.H1262Y	PTPRM_ENST00000580170.1_Missense_Mutation_p.H1275Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.H1049Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.H1200Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.H1276Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1262	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGTCACCCAGCATCCTTTGCC	0.433													False	0	False	18:8380330	0	T	8380330	C	T	8380330	3	4	88	1	0	0	0	0	1	0	0	0	12885	710	25	2	3937	2	PTPRM	18	8380330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127842	8380330	69696918	17243	24955											
ANKRD12	23253	broad.mit.edu	37	chr18	9255009	9255009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattacagcctgatcttgttCggtatgataatacagaatct	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9255009C>T	ENST00000262126.4	+	9	1984	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	ANKRD12_ENST00000383440.2_Missense_Mutation_p.R559W|ANKRD12_ENST00000400020.3_Missense_Mutation_p.R559W	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGATCTTGTTCGGTATGATAA	0.333													False	0	False	18:9255009	0	T	9255009	C	T	9255009	3	4	88	1	0	0	0	0	1	0	0	0	640	875	31	1	1774	1	ANKRD12	18	9255009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	874679	9255009	68822239	17244	24956											
TWSG1	57045	broad.mit.edu	37	chr18	9359999	9359999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgccggccgggagaaggCaattgctcctgctgtaagga	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9359999C>T	ENST00000262120.5	+	3	344	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TWSG1_ENST00000581641.1_Silent_p.G51G	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	51	Cys-rich.									breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CGGGAGAAGGCAATTGCTCCT	0.443													False	0	False	18:9359999	0	T	9359999	C	T	9359999	2	4	88	1	0	0	0	0	0	0	0	1	16869	697	25	2		2	TWSG1	18	9359999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104990	9359999	68717249	17245	24957											
RALBP1	10928	broad.mit.edu	37	chr18	9513171	9513171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagtttcctggattgtaccGcactggcgagccctcacctc	9	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9513171G>A	ENST00000019317.4	+	2	351	c.128G>A	c.(127-129)cGc>cAc	p.R43H	RALBP1_ENST00000383432.3_Missense_Mutation_p.R43H			Q15311	RBP1_HUMAN	ralA binding protein 1	43					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GGATTGTACCGCACTGGCGAG	0.542													False	0	False	18:9513171	0	A	9513171	G	A	9513171	3	1	88	1	0	0	0	0	1	0	0	0	13091	1087	38	1	130	1	RALBP1	18	9513171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153172	9513171	68564077	17246	24958											
RALBP1	10928	broad.mit.edu	37	chr18	9535870	9535870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagcagctaaagagcagCcaaaggcaggcaaggagccg	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9535870C>T	ENST00000019317.4	+	10	2126	c.1903C>T	c.(1903-1905)Cca>Tca	p.P635S	RALBP1_ENST00000383432.3_Missense_Mutation_p.P635S			Q15311	RBP1_HUMAN	ralA binding protein 1	635					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						TAAAGAGCAGCCAAAGGCAGG	0.657													False	0	False	18:9535870	0	T	9535870	C	T	9535870	3	4	88	1	0	0	0	0	1	0	0	0	13091	739	26	2	1937	2	RALBP1	18	9535870	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22699	9535870	68541378	17247	24959											
PPP4R1	9989	broad.mit.edu	37	chr18	9559502	9559502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggccacaccagggaggCtatatgcacagtgcttagca	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9559502C>T	ENST00000400556.3	-	14	2016	c.1943G>A	c.(1942-1944)aGc>aAc	p.S648N	PPP4R1_ENST00000400555.3_Missense_Mutation_p.S631N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	648					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						ACCAGGGAGGCTATATGCACA	0.488													False	0	False	18:9559502	0	T	9559502	C	T	9559502	3	4	88	1	0	0	0	0	1	0	0	0	12477	797	28	2	937	2	PPP4R1	18	9559502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23632	9559502	68517746	17248	24960											
PPP4R1	9989	broad.mit.edu	37	chr18	9570435	9570435	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctctggtcgtaacatagaTttgtagttaccaggtttttt	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9570435T>G	ENST00000400556.3	-	11	1366	c.1293A>C	c.(1291-1293)aaA>aaC	p.K431N	PPP4R1_ENST00000400555.3_Missense_Mutation_p.K414N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	431					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GTAACATAGATTTGTAGTTAC	0.418													False	0	True	18:9570435	0	G	9570435	T	G	9570435	3	3	88	1	0	0	0	0	1	0	0	0	12477	1490	52	4	1599	4	PPP4R1	18	9570435	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10933	9570435	68506813	17249	24961											
TXNDC2	0	broad.mit.edu	37	chr18	9886595	9886595	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtacagaaagctcatTactagtcctgtccagcaacg	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9886595T>C	ENST00000306084.6	+	2	318	c.119T>C	c.(118-120)tTa>tCa	p.L40S	TXNDC2_ENST00000536353.2_5'UTR|TXNDC2_ENST00000357775.5_5'UTR|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	40					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GAAAGCTCATTACTAGTCCTG	0.398													False	0	False	18:9886595	0	C	9886595	T	C	9886595	3	2	88	1	0	0	0	0	1	0	0	0	16881	1764	61	4	125	4	TXNDC2	18	9886595	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	316160	9886595	68190653	17250	24962											
TXNDC2	0	broad.mit.edu	37	chr18	9887884	9887884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggaggccggggagaggCtggtggctgtggacttctcg	20	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9887884C>T	ENST00000357775.5	+	2	1442	c.1207C>T	c.(1207-1209)Ctg>Ttg	p.L403L	TXNDC2_ENST00000306084.6_Silent_p.L470L|TXNDC2_ENST00000536353.2_3'UTR	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)		22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CGGGGAGAGGCTGGTGGCTGT	0.572													False	0	False	18:9887884	0	T	9887884	C	T	9887884	2	4	88	1	0	0	0	0	0	0	0	1	16881	796	28	2		2	TXNDC2	18	9887884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1289	9887884	68189364	17251	24963											
TXNDC2	0	broad.mit.edu	37	chr18	9888089	9888089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaggtggatgaactttGcggcgcccttaaggaaaaac	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9888089G>A	ENST00000357775.5	+	2	1647	c.1412G>A	c.(1411-1413)tGc>tAc	p.C471Y	TXNDC2_ENST00000306084.6_Missense_Mutation_p.C538Y|TXNDC2_ENST00000536353.2_3'UTR	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)		Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GATGAACTTTGCGGCGCCCTT	0.418													False	0	True	18:9888089	0	A	9888089	G	A	9888089	3	1	88	1	0	0	0	0	1	0	0	0	16881	1319	46	2	1619	2	TXNDC2	18	9888089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205	9888089	68189159	17252	24964											
APCDD1	147495	broad.mit.edu	37	chr18	10471563	10471563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagagttcatcacaagGtcctacagattctaccacaa	7	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:10471563G>A	ENST00000355285.5	+	3	633	c.279G>A	c.(277-279)agG>agA	p.R93R	APCDD1_ENST00000578882.1_Silent_p.R93R	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1						hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TCATCACAAGGTCCTACAGAT	0.458													False	0	False	18:10471563	0	A	10471563	G	A	10471563	2	1	88	1	0	0	0	0	0	0	0	1	767	1252	44	2		2	APCDD1	18	10471563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	583474	10471563	67605685	17253	24965											
MPPE1	65258	broad.mit.edu	37	chr18	11887014	11887014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagcgccacgctgttgaCcatcacaaagctgaagcgga	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:11887014C>T	ENST00000588072.1	-	7	1801	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	MPPE1_ENST00000317235.7_Missense_Mutation_p.V194I|MPPE1_ENST00000344987.7_Missense_Mutation_p.V194I|MPPE1_ENST00000399978.2_Missense_Mutation_p.V194I|MPPE1_ENST00000309976.9_Missense_Mutation_p.V194I	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	194					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						ACGCTGTTGACCATCACAAAG	0.527													False	0	False	18:11887014	0	T	11887014	C	T	11887014	3	4	88	1	0	0	0	0	1	0	0	0	9807	507	18	2	630	2	MPPE1	18	11887014	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1415451	11887014	66190234	17254	24966											
IMPA2	3613	broad.mit.edu	37	chr18	12014290	12014290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggagtgatttaccactgCacagaggagcggctgtacac	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12014290C>T	ENST00000269159.3	+	5	650	c.408C>T	c.(406-408)tgC>tgT	p.C136C	IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000588927.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	136					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTTACCACTGCACAGAGGAGC	0.577													False	0	False	18:12014290	0	T	12014290	C	T	12014290	2	4	88	1	0	0	0	0	0	0	0	1	7773	718	25	2		2	IMPA2	18	12014290	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127276	12014290	66062958	17255	24967											
CIDEA	1149	broad.mit.edu	37	chr18	12262855	12262855	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgggatcacagactaagCgagtcctgttcaccccgctc	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12262855C>T	ENST00000320477.9	+	2	135	c.70C>T	c.(70-72)Cga>Tga	p.R24*	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	24					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						ACAGACTAAGCGAGTCCTGTT	0.502													False	0	False	18:12262855	0	T	12262855	C	T	12262855	4	4	88	1	0	0	0	0	0	1	0	0	3448	760	27	1	220	1	CIDEA	18	12262855	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248565	12262855	65814393	17256	24968											
CIDEA	1149	broad.mit.edu	37	chr18	12264367	12264367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggaggaagatggcaCcgtggtggacacagaagagt	18	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12264367C>T	ENST00000320477.9	+	3	310	c.245C>T	c.(244-246)aCc>aTc	p.T82I	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	82	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAAGATGGCACCGTGGTGGAC	0.507													False	0	False	18:12264367	0	T	12264367	C	T	12264367	3	4	88	1	0	0	0	0	1	0	0	0	3448	507	18	2	399	2	CIDEA	18	12264367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1512	12264367	65812881	17257	24969											
TUBB6	84617	broad.mit.edu	37	chr18	12325894	12325894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcctccaccttcatcgGcaacagcacggccatccagg	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12325894G>A	ENST00000317702.5	+	4	1340	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	369					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ACCTTCATCGGCAACAGCACG	0.612													False	0	False	18:12325894	0	A	12325894	G	A	12325894	3	1	88	1	0	0	0	0	1	0	0	0	16844	1203	42	2	1120	2	TUBB6	18	12325894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61527	12325894	65751354	17258	24970											
AFG3L2	10939	broad.mit.edu	37	chr18	12353089	12353089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctctcttccttcccacCgcatcgatttcatcgatgaa	4	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12353089C>T	ENST00000269143.3	-	10	1464	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	411					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TCCTTCCCACCGCATCGATTT	0.527													False	0	False	18:12353089	0	T	12353089	C	T	12353089	2	4	88	1	0	0	0	0	0	0	0	1	360	639	23	1		1	AFG3L2	18	12353089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27195	12353089	65724159	17259	24971											
AFG3L2	10939	broad.mit.edu	37	chr18	12358738	12358738	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaattcacaaattccatgatCtctagcttggcctcctcaca	4	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12358738C>A	ENST00000269143.3	-	8	1188	c.957G>T	c.(955-957)gaG>gaT	p.E319D		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	319					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ATTCCATGATCTCTAGCTTGG	0.398													False	0	False	18:12358738	0	A	12358738	C	A	12358738	3	1	88	1	0	0	0	0	1	0	0	0	360	912	32	3	1476	3	AFG3L2	18	12358738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5649	12358738	65718510	17260	24972											
AFG3L2	10939	broad.mit.edu	37	chr18	12367285	12367285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcatcaaaccttctgaaacCtggaccaccagtgagaatca	7	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12367285C>A	ENST00000269143.3	-	4	620	c.389G>T	c.(388-390)aGg>aTg	p.R130M		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	130					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CTTCTGAAACCTGGACCACCA	0.488													False	0	False	18:12367285	0	A	12367285	C	A	12367285	3	1	88	1	0	0	0	0	1	0	0	0	360	681	24	3	2060	3	AFG3L2	18	12367285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8547	12367285	65709963	17261	24973											
CEP76	79959	broad.mit.edu	37	chr18	12686292	12686292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaaaggccagcagagtgCaccactgctcctgtttacct	10	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12686292C>T	ENST00000262127.2	-	8	1316	c.1091G>A	c.(1090-1092)tGc>tAc	p.C364Y	CEP76_ENST00000423709.2_Missense_Mutation_p.C289Y|PSMG2_ENST00000585331.2_Intron|PSMG2_ENST00000589405.1_3'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	364					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGCAGAGTGCACCACTGCTC	0.408													False	0	False	18:12686292	0	T	12686292	C	T	12686292	3	4	88	1	0	0	0	0	1	0	0	0	3284	710	25	2	908	2	CEP76	18	12686292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319007	12686292	65390956	17262	24974											
CEP76	79959	broad.mit.edu	37	chr18	12699159	12699159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagaaagcttttccaccCaaaacctgaaggtaaagata	6	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12699159C>T	ENST00000262127.2	-	4	564	c.339G>A	c.(337-339)ttG>ttA	p.L113L	CEP76_ENST00000423709.2_Intron|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000586887.1_5'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	113					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTTCCACCCAAAACCTGAA	0.363													False	0	True	18:12699159	0	T	12699159	C	T	12699159	2	4	88	1	0	0	0	0	0	0	0	1	3284	593	21	2		2	CEP76	18	12699159	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12867	12699159	65378089	17263	24975											
PTPN2	5771	broad.mit.edu	37	chr18	12825835	12825835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttctaattgtagtagatGtactgtataatacgacttca	6	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12825835G>A	ENST00000309660.5	-	5	562	c.469C>T	c.(469-471)Cat>Tat	p.H157Y	PTPN2_ENST00000353319.4_Missense_Mutation_p.H157Y|PTPN2_ENST00000591115.1_Missense_Mutation_p.H157Y|PTPN2_ENST00000327283.3_Missense_Mutation_p.H157Y|PTPN2_ENST00000591497.1_Missense_Mutation_p.H128Y	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	157	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				TGTAGTAGATGTACTGTATAA	0.338													False	0	False	18:12825835	0	A	12825835	G	A	12825835	3	1	88	1	0	0	0	0	1	0	0	0	12862	1377	48	2	824	2	PTPN2	18	12825835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126676	12825835	65251413	17264	24976											
SEH1L	81929	broad.mit.edu	37	chr18	12955494	12955494	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtatggcgtgtgacatgGgcccatcctgaatttgggca	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12955494G>A	ENST00000262124.11	+	3	322	c.195G>A	c.(193-195)tgG>tgA	p.W65*	SEH1L_ENST00000399892.2_Nonsense_Mutation_p.W65*	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	65					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTGTGACATGGGCCCATCCTG	0.413													False	0	True	18:12955494	0	A	12955494	G	A	12955494	4	1	88	1	0	0	0	0	0	1	0	0	14090	1241	43	2	205	2	SEH1L	18	12955494	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129659	12955494	65121754	17265	24977											
CEP192	55125	broad.mit.edu	37	chr18	13059253	13059253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgagaccatcgtacaggCagaagctttggccagcaccg	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13059253C>T	ENST00000506447.1	+	21	4510	c.4430C>T	c.(4429-4431)gCa>gTa	p.A1477V	CEP192_ENST00000325971.8_Missense_Mutation_p.A881V|CEP192_ENST00000430049.2_Missense_Mutation_p.A1002V	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1072										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATCGTACAGGCAGAAGCTTTG	0.453													False	0	False	18:13059253	0	T	13059253	C	T	13059253	3	4	88	1	0	0	0	0	1	0	0	0	3274	710	25	2	4508	2	CEP192	18	13059253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103759	13059253	65017995	17266	24978											
CEP192	55125	broad.mit.edu	37	chr18	13059273	13059273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagctttggccagcaccGtcactctcactgccattgcc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13059273G>A	ENST00000506447.1	+	21	4530	c.4450G>A	c.(4450-4452)Gtc>Atc	p.V1484I	CEP192_ENST00000325971.8_Missense_Mutation_p.V888I|CEP192_ENST00000430049.2_Missense_Mutation_p.V1009I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1079								p.V888I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCCAGCACCGTCACTCTCAC	0.458													False	0	False	18:13059273	0	A	13059273	G	A	13059273	3	1	88	1	0	0	0	0	1	0	0	0	3274	1145	40	1	4528	1	CEP192	18	13059273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	13059273	65017975	17267	24979											
CEP192	55125	broad.mit.edu	37	chr18	13068922	13068922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcccaaaccctacgcccGttcttagaagtgtgagtctc	8	14	2	2	rs142781329		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13068922G>A	ENST00000506447.1	+	25	4974	c.4894G>A	c.(4894-4896)Gtt>Att	p.V1632I	CEP192_ENST00000325971.8_Missense_Mutation_p.V1036I|CEP192_ENST00000430049.2_Missense_Mutation_p.V1157I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1227										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCTACGCCCGTTCTTAGAAG	0.473													False	0	True	18:13068922	0	A	13068922	G	A	13068922	3	1	88	1	0	0	0	0	1	0	0	0	3274	1145	40	1	4988	1	CEP192	18	13068922	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9649	13068922	65008326	17268	24980											
MC5R	4161	broad.mit.edu	37	chr18	13826258	13826258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggggccatcatcgccgGcatctgggctttctgcacgg	13	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13826258G>A	ENST00000324750.3	+	1	716	c.494G>A	c.(493-495)gGc>gAc	p.G165D		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	165					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATCATCGCCGGCATCTGGGCT	0.567													False	0	False	18:13826258	0	A	13826258	G	A	13826258	3	1	88	1	0	0	0	0	1	0	0	0	9434	1203	42	2	496	2	MC5R	18	13826258	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	757336	13826258	64250990	17269	24981											
MC2R	0	broad.mit.edu	37	chr18	13884791	13884791	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggttacttgggcagaatgTcatcaagaggacatgaagca	14	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13884791T>C	ENST00000327606.3	-	2	907	c.727A>G	c.(727-729)Aca>Gca	p.T243A		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	243					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGGCAGAATGTCATCAAGAGG	0.532													False	0	False	18:13884791	0	C	13884791	T	C	13884791	3	2	88	1	0	0	0	0	1	0	0	0	9431	1667	58	4	170	4	MC2R	18	13884791	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	58533	13884791	64192457	17270	24982											
MC2R	0	broad.mit.edu	37	chr18	13884825	13884825	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcacaaagggggcccaGcagaagatgaagaccccgag	14	10	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13884825G>T	ENST00000327606.3	-	2	873	c.693C>A	c.(691-693)tgC>tgA	p.C231*		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	231					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGGGGGCCCAGCAGAAGATGA	0.557													False	0	False	18:13884825	0	T	13884825	G	T	13884825	4	4	88	1	0	0	0	0	0	1	0	0	9431	963	34	3	204	3	MC2R	18	13884825	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	13884825	64192423	17271	24983											
ANKRD30B	374860	broad.mit.edu	37	chr18	14848795	14848795	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaaaagataactgtgaaCaaattacagcaaaaatggaa	6	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:14848795C>T	ENST00000358984.4	+	34	3085	c.2905C>T	c.(2905-2907)Caa>Taa	p.Q969*		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1054										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAACTGTGAACAAATTACAGC	0.343													False	0	True	18:14848795	0	T	14848795	C	T	14848795	4	4	88	1	0	0	0	0	0	1	0	0	659	479	17	2	3039	2	ANKRD30B	18	14848795	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	963970	14848795	63228453	17272	24984											
ROCK1	6093	broad.mit.edu	37	chr18	18588085	18588085	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctttggtactcattaattCtatgctgtagcaacattttc	5	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18588085C>A	ENST00000399799.2	-	14	2421	c.1481G>T	c.(1480-1482)aGa>aTa	p.R494I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTCATTAATTCTATGCTGTAG	0.313													False	0	False	18:18588085	0	A	18588085	C	A	18588085	3	1	88	1	0	0	0	0	1	0	0	0	13596	913	32	3	2663	3	ROCK1	18	18588085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3739290	18588085	59489163	17273	24985											
ROCK1	6093	broad.mit.edu	37	chr18	18622107	18622107	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttgcttcttttgatatgtCattatcatcaggaaaggtaa	7	5	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18622107C>T	ENST00000399799.2	-	8	1850	c.910G>A	c.(910-912)Gac>Aac	p.D304N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTTGATATGTCATTATCATCA	0.313													False	0	False	18:18622107	0	T	18622107	C	T	18622107	3	4	88	1	0	0	0	0	1	0	0	0	13596	826	29	2	3258	2	ROCK1	18	18622107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34022	18622107	59455141	17274	24986											
ESCO1	114799	broad.mit.edu	37	chr18	19144199	19144199	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatcagttttctctgcttCttttagtttcaagtcctttg	5	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19144199C>A	ENST00000269214.5	-	7	2723	c.1786G>T	c.(1786-1788)Gaa>Taa	p.E596*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	596					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTCTCTGCTTCTTTTAGTTTC	0.313													False	0	True	18:19144199	0	A	19144199	C	A	19144199	4	1	88	1	0	0	0	0	0	1	0	0	5280	922	32	3	760	3	ESCO1	18	19144199	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	522092	19144199	58933049	17275	24987											
ESCO1	114799	broad.mit.edu	37	chr18	19147945	19147945	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttccaaagtattacctggAaatttattctctcctgtatc	4	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19147945A>C	ENST00000269214.5	-	5	2578	c.1641T>G	c.(1639-1641)ttT>ttG	p.F547L		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	547					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TATTACCTGGAAATTTATTCT	0.328													False	0	True	18:19147945	0	C	19147945	A	C	19147945	3	2	88	1	0	0	0	0	1	0	0	0	5280	243	9	4	913	4	ESCO1	18	19147945	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3746	19147945	58929303	17276	24988											
ESCO1	114799	broad.mit.edu	37	chr18	19154572	19154572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattaatggatttagtagctTtatcattagatgctgccttt	7	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19154572T>G	ENST00000269214.5	-	4	1170	c.233A>C	c.(232-234)aAa>aCa	p.K78T		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	78					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTTAGTAGCTTTATCATTAGA	0.323													False	0	True	18:19154572	0	G	19154572	T	G	19154572	3	3	88	1	0	0	0	0	1	0	0	0	5280	1841	64	4	2325	4	ESCO1	18	19154572	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6627	19154572	58922676	17277	24989											
ABHD3	171586	broad.mit.edu	37	chr18	19283700	19283700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcacccccggtcactaaCtggggtttctgaagggaaaa	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19283700C>T	ENST00000289119.2	-	2	310	c.171G>A	c.(169-171)caG>caA	p.Q57Q	ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000580981.1_Silent_p.Q57Q	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	57						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CGGTCACTAACTGGGGTTTCT	0.562													False	0	False	18:19283700	0	T	19283700	C	T	19283700	2	4	88	1	0	0	0	0	0	0	0	1	83	564	20	2		2	ABHD3	18	19283700	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129128	19283700	58793548	17278	24990											
MIB1	57534	broad.mit.edu	37	chr18	19437203	19437203	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagatgccactgatgatatCtgtaagtcgattgtcttaag	10	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19437203C>T	ENST00000261537.6	+	19	3042	c.2778C>T	c.(2776-2778)atC>atT	p.I926I	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	926					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTGATGATATCTGTAAGTCGA	0.383													False	0	False	18:19437203	0	T	19437203	C	T	19437203	5	4	88	1	0	0	0	0	0	0	1	0	9633	927	32	2	2852	2	MIB1	18	19437203	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153503	19437203	58640045	17279	24991											
RBBP8	5932	broad.mit.edu	37	chr18	20573396	20573396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagggcttttcctcaagcCgtaaggcctcagatggcaac	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20573396C>T	ENST00000399722.2	+	11	1957	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	RBBP8_ENST00000327155.5_Missense_Mutation_p.R536C|RBBP8_ENST00000399725.2_Missense_Mutation_p.R536C|RBBP8_ENST00000360790.5_Missense_Mutation_p.R536C	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	536					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTCCTCAAGCCGTAAGGCCTC	0.468								Homologous recombination					False	0	False	18:20573396	0	T	20573396	C	T	20573396	3	4	88	1	0	0	0	0	1	0	0	0	13184	652	23	1	1644	1	RBBP8	18	20573396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1136193	20573396	57503852	17280	24992											
CABLES1	91768	broad.mit.edu	37	chr18	20716380	20716380	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgcctttatcagcgtgcaGgtgccggcggccgccttttt	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20716380G>T	ENST00000256925.7	+	1	654	c.654G>T	c.(652-654)caG>caT	p.Q218H	CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	218	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCAGCGTGCAGGTGCCGGCGG	0.701													False	0	False	18:20716380	0	T	20716380	G	T	20716380	3	4	88	1	0	0	0	0	1	0	0	0	2549	991	35	3	656	3	CABLES1	18	20716380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142984	20716380	57360868	17281	24993											
CABLES1	91768	broad.mit.edu	37	chr18	20815979	20815979	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaccgcagcctctccataGgccgggcaagcggcacccag	12	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20815979G>T	ENST00000256925.7	+	6	1306	c.1306G>T	c.(1306-1308)Ggc>Tgc	p.G436C	CABLES1_ENST00000400473.2_Missense_Mutation_p.G109C|CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000420687.2_Missense_Mutation_p.G171C	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	436	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTCTCCATAGGCCGGGCAAG	0.597													False	0	False	18:20815979	0	T	20815979	G	T	20815979	3	4	88	1	0	0	0	0	1	0	0	0	2549	1000	35	3	1382	3	CABLES1	18	20815979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99599	20815979	57261269	17282	24994											
RIOK3	8780	broad.mit.edu	37	chr18	21053554	21053554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatccacgtaagatcatccGcatgtgggcagaaaaagaaa	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21053554G>A	ENST00000339486.3	+	8	1594	c.977G>A	c.(976-978)cGc>cAc	p.R326H	RIOK3_ENST00000581585.1_Missense_Mutation_p.R310H|RIOK3_ENST00000577501.1_Missense_Mutation_p.R326H	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	326	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGATCATCCGCATGTGGGCA	0.323													False	0	False	18:21053554	0	A	21053554	G	A	21053554	3	1	88	1	0	0	0	0	1	0	0	0	13458	1087	38	1	1007	1	RIOK3	18	21053554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237575	21053554	57023694	17283	24995											
RIOK3	8780	broad.mit.edu	37	chr18	21057190	21057190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaacctacccaccctcaCggcctggagttcttgttccg	9	15	2	1	rs56187215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21057190C>T	ENST00000339486.3	+	11	1919	c.1302C>T	c.(1300-1302)caC>caT	p.H434H	RIOK3_ENST00000581585.1_Silent_p.H418H|RIOK3_ENST00000577501.1_Silent_p.H434H	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	434	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCACCCTCACGGCCTGGAGT	0.413													False	0	False	18:21057190	0	T	21057190	C	T	21057190	2	4	88	1	0	0	0	0	0	0	0	1	13458	535	19	1		1	RIOK3	18	21057190	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3636	21057190	57020058	17284	24996											
C18orf8	29919	broad.mit.edu	37	chr18	21083650	21083650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcgagaaggcgaaccctgTcaactgcgtcttcttcgatg	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21083650T>C	ENST00000269221.3	+	1	178	c.68T>C	c.(67-69)gTc>gCc	p.V23A	C18orf8_ENST00000590868.1_Missense_Mutation_p.V23A	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	23										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCGAACCCTGTCAACTGCGTC	0.741													False	0	False	18:21083650	0	C	21083650	T	C	21083650	3	2	88	1	0	0	0	0	1	0	0	0	1922	1667	58	4	70	4	C18orf8	18	21083650	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26460	21083650	56993598	17285	24997											
C18orf8	29919	broad.mit.edu	37	chr18	21084355	21084355	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgctgttcgatctggTggagctactggcgtggtagt	15	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21084355T>C	ENST00000269221.3	+	2	233	c.123T>C	c.(121-123)ggT>ggC	p.G41G	C18orf8_ENST00000590868.1_Silent_p.G41G	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	41										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTCGATCTGGTGGAGCTACTG	0.433													False	0	False	18:21084355	0	C	21084355	T	C	21084355	2	2	88	1	0	0	0	0	0	0	0	1	1922	1683	59	4		4	C18orf8	18	21084355	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	705	21084355	56992893	17286	24998											
C18orf8	29919	broad.mit.edu	37	chr18	21106645	21106645	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacttgagcccatagtaaatCtcttaccagacaaaggaaga	7	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21106645C>A	ENST00000269221.3	+	13	1215	c.1105C>A	c.(1105-1107)Ctc>Atc	p.L369I	C18orf8_ENST00000590868.1_Missense_Mutation_p.L321I	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	369										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATAGTAAATCTCTTACCAGA	0.428													False	0	False	18:21106645	0	A	21106645	C	A	21106645	3	1	88	1	0	0	0	0	1	0	0	0	1922	913	32	3	1155	3	C18orf8	18	21106645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22290	21106645	56970603	17287	24999											
NPC1	4864	broad.mit.edu	37	chr18	21116663	21116663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatactcggtaggcactGccgttaatgcccatggtttc	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21116663G>A	ENST00000269228.5	-	21	3773	c.3219C>T	c.(3217-3219)ggC>ggT	p.G1073G	NPC1_ENST00000412552.2_Silent_p.G755G	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1073					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGTAGGCACTGCCGTTAATGC	0.527													False	0	False	18:21116663	0	A	21116663	G	A	21116663	2	1	88	1	0	0	0	0	0	0	0	1	10638	1306	46	2		2	NPC1	18	21116663	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10018	21116663	56960585	17288	25000											
NPC1	4864	broad.mit.edu	37	chr18	21121149	21121149	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagcacctctgacacaGcaaaagatgtctagccgatt	7	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21121149G>T	ENST00000269228.5	-	16	2951	c.2397C>A	c.(2395-2397)tgC>tgA	p.C799*	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Nonsense_Mutation_p.C481*	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	799					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTCTGACACAGCAAAAGATGT	0.443													False	0	False	18:21121149	0	T	21121149	G	T	21121149	4	4	88	1	0	0	0	0	0	1	0	0	10638	963	34	3	1479	3	NPC1	18	21121149	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4486	21121149	56956099	17289	25001											
NPC1	4864	broad.mit.edu	37	chr18	21134834	21134834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatttaacacactcaaaaTggtgcagttcgtgttatacg	8	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21134834T>C	ENST00000269228.5	-	9	1995	c.1441A>G	c.(1441-1443)Att>Gtt	p.I481V	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.I231V	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	481					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACACTCAAAATGGTGCAGTTC	0.448													False	0	True	18:21134834	0	C	21134834	T	C	21134834	3	2	88	1	0	0	0	0	1	0	0	0	10638	1464	51	4	2463	4	NPC1	18	21134834	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13685	21134834	56942414	17290	25002											
NPC1	4864	broad.mit.edu	37	chr18	21148813	21148813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaactctgtccgacgtagTattgtaactctttcacattt	5	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21148813T>C	ENST00000269228.5	-	4	991	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	146					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCGACGTAGTATTGTAACTC	0.378													False	0	False	18:21148813	0	C	21148813	T	C	21148813	3	2	88	1	0	0	0	0	1	0	0	0	10638	1638	57	4	3487	4	NPC1	18	21148813	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13979	21148813	56928435	17291	25003											
LAMA3	3909	broad.mit.edu	37	chr18	21390456	21390456	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggagcttatgatttccCccactgccaaggtaggaaag	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21390456C>A	ENST00000313654.9	+	13	1971	c.1730C>A	c.(1729-1731)cCc>cAc	p.P577H	LAMA3_ENST00000399516.3_Missense_Mutation_p.P577H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	577	Domain V.|Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATGATTTCCCCCACTGCCAA	0.557													False	0	True	18:21390456	0	A	21390456	C	A	21390456	3	1	88	1	0	0	0	0	1	0	0	0	8658	623	22	3	1780	3	LAMA3	18	21390456	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241643	21390456	56686792	17292	25004											
LAMA3	3909	broad.mit.edu	37	chr18	21494442	21494442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtctacaacctgggggaCcgtgaggctgaactccaagt	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21494442C>T	ENST00000313654.9	+	57	7639	c.7398C>T	c.(7396-7398)gaC>gaT	p.D2466D	LAMA3_ENST00000399516.3_Silent_p.D2410D|LAMA3_ENST00000269217.6_Silent_p.D857D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.D801D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2466	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTGGGGGACCGTGAGGCTG	0.537													False	0	False	18:21494442	0	T	21494442	C	T	21494442	2	4	88	1	0	0	0	0	0	0	0	1	8658	506	18	2		2	LAMA3	18	21494442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103986	21494442	56582806	17293	25005											
LAMA3	3909	broad.mit.edu	37	chr18	21496608	21496608	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccatcccaacctttggacaGacaattcagaccaccgtgga	7	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21496608G>T	ENST00000313654.9	+	60	8113	c.7872G>T	c.(7870-7872)caG>caT	p.Q2624H	LAMA3_ENST00000399516.3_Missense_Mutation_p.Q2568H|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q1015H|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q959H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2624	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTTTGGACAGACAATTCAGA	0.428													False	0	True	18:21496608	0	T	21496608	G	T	21496608	3	4	88	1	0	0	0	0	1	0	0	0	8658	933	33	3	8285	3	LAMA3	18	21496608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2166	21496608	56580640	17294	25006											
LAMA3	3909	broad.mit.edu	37	chr18	21519246	21519246	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtggcaagatgcttgCtcaccacttcccaagaccca	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21519246C>A	ENST00000313654.9	+	68	9163	c.8922C>A	c.(8920-8922)tgC>tgA	p.C2974*	LAMA3_ENST00000399516.3_Nonsense_Mutation_p.C2918*|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.C1365*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.C1309*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2974					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGATGCTTGCTCACCACTTC	0.542													False	0	True	18:21519246	0	A	21519246	C	A	21519246	4	1	88	1	0	0	0	0	0	1	0	0	8658	805	28	3	9367	3	LAMA3	18	21519246	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22638	21519246	56558002	17295	25007											
LAMA3	3909	broad.mit.edu	37	chr18	21529773	21529773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcctgaagaactttcaGctggattcaaaacccttgta	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21529773G>A	ENST00000313654.9	+	71	9637	c.9396G>A	c.(9394-9396)caG>caA	p.Q3132Q	LAMA3_ENST00000399516.3_Silent_p.Q3076Q|LAMA3_ENST00000269217.6_Silent_p.Q1523Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.Q1467Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3132	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAACTTTCAGCTGGATTCAA	0.473													False	0	False	18:21529773	0	A	21529773	G	A	21529773	2	1	88	1	0	0	0	0	0	0	0	1	8658	962	34	2		2	LAMA3	18	21529773	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10527	21529773	56547475	17296	25008											
TTC39C	125488	broad.mit.edu	37	chr18	21660833	21660833	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acctgctgggttttcctggaGaccgcctacaggggctttct	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21660833G>T	ENST00000317571.3	+	5	981	c.745G>T	c.(745-747)Gac>Tac	p.D249Y	TTC39C_ENST00000304621.6_Missense_Mutation_p.D188Y|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	249							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TTTTCCTGGAGACCGCCTACA	0.478													False	0	False	18:21660833	0	T	21660833	G	T	21660833	3	4	88	1	0	0	0	0	1	0	0	0	16793	942	33	3	763	3	TTC39C	18	21660833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131060	21660833	56416415	17297	25009											
CABYR	26256	broad.mit.edu	37	chr18	21735930	21735930	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actactaccccaccctcatcAccacctccaacagctgtctc	2	21	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21735930A>G	ENST00000399481.2	+	2	323	c.171A>G	c.(169-171)tcA>tcG	p.S57S	CABYR_ENST00000581397.1_Silent_p.S155S|CABYR_ENST00000415309.2_Silent_p.S155S|CABYR_ENST00000327201.6_Silent_p.S57S|CABYR_ENST00000399496.3_Silent_p.S155S|CABYR_ENST00000399499.1_Silent_p.S155S			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	155					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CACCCTCATCACCACCTCCAA	0.507													False	0	False	18:21735930	0	G	21735930	A	G	21735930	2	3	88	1	0	0	0	0	0	0	0	1	2556	146	6	4		4	CABYR	18	21735930	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75097	21735930	56341318	17298	25010											
OSBPL1A	114876	broad.mit.edu	37	chr18	21758017	21758017	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggttcctttgggttctgcttCtacactcttcccccagaatt	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21758017C>A	ENST00000319481.3	-	21	2259	c.2053G>T	c.(2053-2055)Gaa>Taa	p.E685*	OSBPL1A_ENST00000357041.4_Nonsense_Mutation_p.E303*|OSBPL1A_ENST00000399443.3_Nonsense_Mutation_p.E172*	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	685					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GGTTCTGCTTCTACACTCTTC	0.433													False	0	False	18:21758017	0	A	21758017	C	A	21758017	4	1	88	1	0	0	0	0	0	1	0	0	11345	922	32	3	831	3	OSBPL1A	18	21758017	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22087	21758017	56319231	17299	25011											
OSBPL1A	114876	broad.mit.edu	37	chr18	21805159	21805159	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcagggacctttcggactcgGaatctgtggcagagcaggtt	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21805159G>T	ENST00000319481.3	-	17	1654	c.1448C>A	c.(1447-1449)tCc>tAc	p.S483Y	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S101Y|OSBPL1A_ENST00000399443.3_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	483					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTCGGACTCGGAATCTGTGGC	0.483													False	0	False	18:21805159	0	T	21805159	G	T	21805159	3	4	88	1	0	0	0	0	1	0	0	0	11345	1174	41	3	1452	3	OSBPL1A	18	21805159	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47142	21805159	56272089	17300	25012											
IMPACT	55364	broad.mit.edu	37	chr18	22029853	22029853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattctgctaggaccagatcGctttaaacatatcaacaact	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22029853G>A	ENST00000284202.4	+	10	971	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	277										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GGACCAGATCGCTTTAAACAT	0.378													False	0	False	18:22029853	0	A	22029853	G	A	22029853	3	1	88	1	0	0	0	0	1	0	0	0	7774	1087	38	1	868	1	IMPACT	18	22029853	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224694	22029853	56047395	17301	25013											
ZNF521	25925	broad.mit.edu	37	chr18	22804628	22804628	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccatatggcaggccattgAtatcaagtttcaccagatct	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22804628A>C	ENST00000361524.3	-	4	3402	c.3254T>G	c.(3253-3255)aTc>aGc	p.I1085S	ZNF521_ENST00000584787.1_Missense_Mutation_p.I865S|ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1085					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGGCCATTGATATCAAGTTT	0.537			T	PAX5	ALL								False	0	False	18:22804628	0	C	22804628	A	C	22804628	3	2	88	1	0	0	0	0	1	0	0	0	18048	333	12	4	701	4	ZNF521	18	22804628	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	774775	22804628	55272620	17302	25014											
ZNF521	25925	broad.mit.edu	37	chr18	22804820	22804820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcatgcacaccacgcagCgaaagcctgtcagggaattc	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22804820C>T	ENST00000361524.3	-	4	3210	c.3062G>A	c.(3061-3063)cGc>cAc	p.R1021H	ZNF521_ENST00000584787.1_Missense_Mutation_p.R801H|ZNF521_ENST00000538137.2_Missense_Mutation_p.R1021H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1021					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CACCACGCAGCGAAAGCCTGT	0.512			T	PAX5	ALL								False	0	False	18:22804820	0	T	22804820	C	T	22804820	3	4	88	1	0	0	0	0	1	0	0	0	18048	768	27	1	893	1	ZNF521	18	22804820	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192	22804820	55272428	17303	25015											
ZNF521	25925	broad.mit.edu	37	chr18	22806342	22806342	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catatagcaatggggacaaaAgaatgcattactatctttag	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22806342A>C	ENST00000361524.3	-	4	1688	c.1540T>G	c.(1540-1542)Ttt>Gtt	p.F514V	ZNF521_ENST00000584787.1_Missense_Mutation_p.F294V|ZNF521_ENST00000538137.2_Missense_Mutation_p.F514V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	514					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGGGACAAAAGAATGCATTA	0.463			T	PAX5	ALL								False	0	True	18:22806342	0	C	22806342	A	C	22806342	3	2	88	1	0	0	0	0	1	0	0	0	18048	72	3	4	2415	4	ZNF521	18	22806342	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1522	22806342	55270906	17304	25016											
ZNF521	25925	broad.mit.edu	37	chr18	22806822	22806822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggagtcgtactggacaCggaggtatagcccaccgtga	13	10	1	1	rs140504840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22806822C>T	ENST00000361524.3	-	4	1208	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M	ZNF521_ENST00000584787.1_Missense_Mutation_p.V134M|ZNF521_ENST00000538137.2_Missense_Mutation_p.V354M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	354					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTACTGGACACGGAGGTATAG	0.577			T	PAX5	ALL								False	0	False	18:22806822	0	T	22806822	C	T	22806822	3	4	88	1	0	0	0	0	1	0	0	0	18048	536	19	1	2895	1	ZNF521	18	22806822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	480	22806822	55270426	17305	25017											
ZNF521	25925	broad.mit.edu	37	chr18	22807139	22807139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttcctcacactgactgCacttctgagtgtccttcatc	6	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22807139C>T	ENST00000361524.3	-	4	891	c.743G>A	c.(742-744)tGc>tAc	p.C248Y	ZNF521_ENST00000584787.1_Missense_Mutation_p.C28Y|ZNF521_ENST00000538137.2_Missense_Mutation_p.C248Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	248					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACACTGACTGCACTTCTGAGT	0.547			T	PAX5	ALL								False	0	True	18:22807139	0	T	22807139	C	T	22807139	3	4	88	1	0	0	0	0	1	0	0	0	18048	710	25	2	3212	2	ZNF521	18	22807139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317	22807139	55270109	17306	25018											
ZNF521	25925	broad.mit.edu	37	chr18	22902012	22902012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttgtgttctgtgatatcGctcagcgattcaaacacctg	8	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22902012G>A	ENST00000361524.3	-	3	328	c.180C>T	c.(178-180)agC>agT	p.S60S	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.S60S|ZNF521_ENST00000579111.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	60					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGTGATATCGCTCAGCGATT	0.428			T	PAX5	ALL								False	0	False	18:22902012	0	A	22902012	G	A	22902012	2	1	88	1	0	0	0	0	0	0	0	1	18048	1078	38	1		1	ZNF521	18	22902012	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94873	22902012	55175236	17307	25019											
SS18	6760	broad.mit.edu	37	chr18	23612494	23612494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggaccaccctgtgaagGacctgaaaataatgtacaca	8	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23612494G>A	ENST00000415083.2	-	10	1154	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	SS18_ENST00000542420.2_Missense_Mutation_p.P344S|SS18_ENST00000539849.1_Missense_Mutation_p.P285S|SS18_ENST00000269137.7_Missense_Mutation_p.P336S|SS18_ENST00000545952.1_Missense_Mutation_p.P284S|SS18_ENST00000542743.1_Missense_Mutation_p.P284S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	367	2 X 13 AA imperfect tandem repeats.|Gln-rich.	Breakpoint for translocation to form the SSXT-SSX1 fusion protein (rare).			positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					CCCTGTGAAGGACCTGAAAAT	0.453			T	"SSX1,  SSX2"	synovial sarcoma								False	0	False	18:23612494	0	A	23612494	G	A	23612494	3	1	88	1	0	0	0	0	1	0	0	0	15257	1174	41	2	165	2	SS18	18	23612494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	710482	23612494	54464754	17308	25020											
TAF4B	6875	broad.mit.edu	37	chr18	23866093	23866093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtccagtgggagcaaaagCtggagttgtgacacttcatt	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23866093C>A	ENST00000269142.5	+	7	2218	c.1220C>A	c.(1219-1221)gCt>gAt	p.A407D	TAF4B_ENST00000578121.1_Missense_Mutation_p.A407D|TAF4B_ENST00000400466.2_Missense_Mutation_p.A407D	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	407					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GGAGCAAAAGCTGGAGTTGTG	0.478													False	0	False	18:23866093	0	A	23866093	C	A	23866093	3	1	88	1	0	0	0	0	1	0	0	0	15609	797	28	3	1246	3	TAF4B	18	23866093	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253599	23866093	54211155	17309	25021											
TAF4B	6875	broad.mit.edu	37	chr18	23866330	23866330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcttccatctgtgaaacCtgttgtttcttctgctggga	9	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23866330C>A	ENST00000269142.5	+	7	2455	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	TAF4B_ENST00000578121.1_Missense_Mutation_p.P486H|TAF4B_ENST00000400466.2_Missense_Mutation_p.P486H	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	486					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCTGTGAAACCTGTTGTTTCT	0.483													False	0	False	18:23866330	0	A	23866330	C	A	23866330	3	1	88	1	0	0	0	0	1	0	0	0	15609	681	24	3	1483	3	TAF4B	18	23866330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	237	23866330	54210918	17310	25022											
KCTD1	284252	broad.mit.edu	37	chr18	24039887	24039887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatataacaaagtgtaGtcctggaaaaaaaaaaggta	7	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24039887G>A	ENST00000417602.1	-	4	2135	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	KCTD1_ENST00000408011.3_Silent_p.D104D|KCTD1_ENST00000317932.7_Silent_p.D104D|KCTD1_ENST00000580059.1_Silent_p.D104D|KCTD1_ENST00000579973.1_Silent_p.D104D	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	104					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ACAAAGTGTAGTCCTGGAAAA	0.363													False	0	False	18:24039887	0	A	24039887	G	A	24039887	2	1	88	1	0	0	0	0	0	0	0	1	8146	1020	36	2		2	KCTD1	18	24039887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173557	24039887	54037361	17311	25023											
KCTD1	284252	broad.mit.edu	37	chr18	24056620	24056620	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaccatcaaaaagtcttccGattctgtgatagaaaagagg	9	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24056620G>A	ENST00000417602.1	-	3	1991	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	KCTD1_ENST00000408011.3_Silent_p.I56I|KCTD1_ENST00000317932.7_Silent_p.I56I|KCTD1_ENST00000580059.1_Silent_p.I56I|KCTD1_ENST00000579973.1_Silent_p.I56I	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	56					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			AAAGTCTTCCGATTCTGTGAT	0.388													False	0	False	18:24056620	0	A	24056620	G	A	24056620	2	1	88	1	0	0	0	0	0	0	0	1	8146	1048	37	1		1	KCTD1	18	24056620	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16733	24056620	54020628	17312	25024											
CHST9	83539	broad.mit.edu	37	chr18	24496351	24496351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgagcattggttctttcatCggaagagtgcctatccttaa	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24496351C>T	ENST00000284224.8	-	6	1481	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	CHST9_ENST00000581714.1_Missense_Mutation_p.D402N|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	402					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.D402Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GTTCTTTCATCGGAAGAGTGC	0.363													False	0	False	18:24496351	0	T	24496351	C	T	24496351	3	4	88	1	0	0	0	0	1	0	0	0	3434	884	31	1	131	1	CHST9	18	24496351	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439731	24496351	53580897	17313	25025											
CHST9	83539	broad.mit.edu	37	chr18	24496606	24496606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattaatgcttcttcacaggCatttggtcgatatttcttga	7	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24496606C>T	ENST00000284224.8	-	6	1226	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	CHST9_ENST00000581714.1_Missense_Mutation_p.A317T|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	317					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TCTTCACAGGCATTTGGTCGA	0.398													False	0	False	18:24496606	0	T	24496606	C	T	24496606	3	4	88	1	0	0	0	0	1	0	0	0	3434	710	25	2	386	2	CHST9	18	24496606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255	24496606	53580642	17314	25026											
CHST9	83539	broad.mit.edu	37	chr18	24524299	24524299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgagagaatacctggttGgtgatatgttcctggatttt	11	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24524299G>A	ENST00000284224.8	-	5	511	c.234C>T	c.(232-234)acC>acT	p.T78T	CHST9_ENST00000581714.1_Silent_p.T78T|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_Intron	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	78					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					ATACCTGGTTGGTGATATGTT	0.313													False	0	True	18:24524299	0	A	24524299	G	A	24524299	2	1	88	1	0	0	0	0	0	0	0	1	3434	1335	47	2		2	CHST9	18	24524299	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27693	24524299	53552949	17315	25027											
CDH2	1000	broad.mit.edu	37	chr18	25565534	25565534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttctcttaatagtcactgGagataaaggaagatcaaaag	8	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25565534G>A	ENST00000269141.3	-	12	2356	c.1933C>T	c.(1933-1935)Cca>Tca	p.P645S	CDH2_ENST00000399380.3_Missense_Mutation_p.P614S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	645	Cadherin 5.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATAGTCACTGGAGATAAAGGA	0.373													False	0	False	18:25565534	0	A	25565534	G	A	25565534	3	1	88	1	0	0	0	0	1	0	0	0	3128	1174	41	2	807	2	CDH2	18	25565534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1041235	25565534	52511714	17316	25028											
CDH2	1000	broad.mit.edu	37	chr18	25570308	25570308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcctatttgtttcaaagtCgattggctggaaaataaaag	8	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25570308C>T	ENST00000269141.3	-	10	1774	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	CDH2_ENST00000399380.3_Missense_Mutation_p.D420N	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	451	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTTTCAAAGTCGATTGGCTGG	0.393													False	0	False	18:25570308	0	T	25570308	C	T	25570308	3	4	88	1	0	0	0	0	1	0	0	0	3128	884	31	1	1397	1	CDH2	18	25570308	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4774	25570308	52506940	17317	25029											
CDH2	1000	broad.mit.edu	37	chr18	25572675	25572675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggtctggatggcgaaccGtccagtaggatctccgccac	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25572675G>A	ENST00000269141.3	-	9	1711	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	CDH2_ENST00000399380.3_Missense_Mutation_p.R399W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	430	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGCGAACCGTCCAGTAGGA	0.527													False	0	False	18:25572675	0	A	25572675	G	A	25572675	3	1	88	1	0	0	0	0	1	0	0	0	3128	1144	40	1	1464	1	CDH2	18	25572675	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2367	25572675	52504573	17318	25030											
DSC3	1825	broad.mit.edu	37	chr18	28576801	28576801	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgccactccgagtaagTgtatctgcagttgtccacct	9	12	1	0	rs115171596	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28576801T>G	ENST00000434452.1	-	15	2603	c.2449A>C	c.(2449-2451)Act>Cct	p.T817P	DSC3_ENST00000360428.4_Missense_Mutation_p.T817P	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	817					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCCGAGTAAGTGTATCTGCAG	0.507													False	0	False	18:28576801	0	G	28576801	T	G	28576801	3	3	88	1	0	0	0	0	1	0	0	0	4797	1696	59	4	280	4	DSC3	18	28576801	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3004126	28576801	49500447	17319	25031											
DSC3	1825	broad.mit.edu	37	chr18	28586953	28586953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaatggagctccatggAcaggttcatcaggatcaaca	9	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28586953A>G	ENST00000434452.1	-	12	1962	c.1808T>C	c.(1807-1809)gTc>gCc	p.V603A	DSC3_ENST00000360428.4_Missense_Mutation_p.V603A	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	603	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGCTCCATGGACAGGTTCATC	0.358													False	0	False	18:28586953	0	G	28586953	A	G	28586953	3	3	88	1	0	0	0	0	1	0	0	0	4797	275	10	4	933	4	DSC3	18	28586953	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10152	28586953	49490295	17320	25032											
DSC3	1825	broad.mit.edu	37	chr18	28588089	28588089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgaaatttcatcaatgGtgatccaacctttaggatca	6	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28588089G>A	ENST00000434452.1	-	11	1710	c.1556C>T	c.(1555-1557)aCc>aTc	p.T519I	DSC3_ENST00000360428.4_Missense_Mutation_p.T519I	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	519	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCATCAATGGTGATCCAACC	0.313													False	0	False	18:28588089	0	A	28588089	G	A	28588089	3	1	88	1	0	0	0	0	1	0	0	0	4797	1261	44	2	1189	2	DSC3	18	28588089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1136	28588089	49489159	17321	25033											
DSC3	1825	broad.mit.edu	37	chr18	28602455	28602455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgtggcacaaaccacCcccactgtagtacctacaca	6	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28602455C>T	ENST00000434452.1	-	7	943	c.789G>A	c.(787-789)ggG>ggA	p.G263G	DSC3_ENST00000360428.4_Silent_p.G263G	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	263	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CACAAACCACCCCCACTGTAG	0.388													False	0	True	18:28602455	0	T	28602455	C	T	28602455	2	4	88	1	0	0	0	0	0	0	0	1	4797	610	22	2		2	DSC3	18	28602455	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14366	28602455	49474793	17322	25034											
DSC3	1825	broad.mit.edu	37	chr18	28605830	28605830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttctttatcaactccacGtccacttattgagtagaaga	7	9	2	3	rs137869359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28605830G>A	ENST00000434452.1	-	5	680	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	DSC3_ENST00000360428.4_Missense_Mutation_p.R176C	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	176	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCAACTCCACGTCCACTTATT	0.313													False	0	False	18:28605830	0	A	28605830	G	A	28605830	3	1	88	1	0	0	0	0	1	0	0	0	4797	1145	40	1	2243	1	DSC3	18	28605830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3375	28605830	49471418	17323	25035											
DSC2	1824	broad.mit.edu	37	chr18	28662229	28662229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacacaaagaactccttcaTtggttttggcatctgttaca	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28662229T>C	ENST00000280904.6	-	9	1681	c.1238A>G	c.(1237-1239)aAt>aGt	p.N413S	DSC2_ENST00000251081.6_Missense_Mutation_p.N413S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	413	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AACTCCTTCATTGGTTTTGGC	0.294													False	0	False	18:28662229	0	C	28662229	T	C	28662229	3	2	88	1	0	0	0	0	1	0	0	0	4796	1493	52	4	1539	4	DSC2	18	28662229	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56399	28662229	49415019	17324	25036											
DSC2	1824	broad.mit.edu	37	chr18	28669454	28669454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacgagtacaatacaagtttCcagtgtctctctccacataa	6	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28669454C>A	ENST00000280904.6	-	5	1021	c.578G>T	c.(577-579)gGa>gTa	p.G193V	DSC2_ENST00000251081.6_Missense_Mutation_p.G193V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	193	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATACAAGTTTCCAGTGTCTCT	0.403													False	0	True	18:28669454	0	A	28669454	C	A	28669454	3	1	88	1	0	0	0	0	1	0	0	0	4796	855	30	3	2215	3	DSC2	18	28669454	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7225	28669454	49407794	17325	25037											
DSC2	1824	broad.mit.edu	37	chr18	28672188	28672188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttgttgtatagactgaaCcatcctccaaaatttggaag	7	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28672188C>T	ENST00000280904.6	-	3	673	c.230G>A	c.(229-231)gGt>gAt	p.G77D	DSC2_ENST00000251081.6_Missense_Mutation_p.G77D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	77					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATAGACTGAACCATCCTCCAA	0.343													False	0	False	18:28672188	0	T	28672188	C	T	28672188	3	4	88	1	0	0	0	0	1	0	0	0	4796	507	18	2	2571	2	DSC2	18	28672188	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2734	28672188	49405060	17326	25038											
DSC2	1824	broad.mit.edu	37	chr18	28672216	28672216	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaaatttggaagtcaggatCacttgaatgaattagatttg	9	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28672216C>A	ENST00000280904.6	-	3	645	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	DSC2_ENST00000251081.6_Missense_Mutation_p.D68Y	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	68					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAGTCAGGATCACTTGAATGA	0.333													False	0	False	18:28672216	0	A	28672216	C	A	28672216	3	1	88	1	0	0	0	0	1	0	0	0	4796	826	29	3	2599	3	DSC2	18	28672216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	28672216	49405032	17327	25039											
DSC1	1823	broad.mit.edu	37	chr18	28710482	28710482	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattaaaaggcacatttattTcttgatgcatgtctttgcta	6	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28710482T>G	ENST00000257198.5	-	16	2941	c.2680A>C	c.(2680-2682)Aaa>Caa	p.K894Q	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	894					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CACATTTATTTCTTGATGCAT	0.393													False	0	True	18:28710482	0	G	28710482	T	G	28710482	3	3	88	1	0	0	0	0	1	0	0	0	4795	1792	62	4	8	4	DSC1	18	28710482	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38266	28710482	49366766	17328	25040											
DSC1	1823	broad.mit.edu	37	chr18	28725591	28725591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttctctatccagaaaagGtgtagttgtggtgatgacac	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28725591G>A	ENST00000257197.3	-	7	1183	c.922C>T	c.(922-924)Cct>Tct	p.P308S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P308S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	308	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCCAGAAAAGGTGTAGTTGTG	0.373													False	0	False	18:28725591	0	A	28725591	G	A	28725591	3	1	88	1	0	0	0	0	1	0	0	0	4795	1261	44	2	1842	2	DSC1	18	28725591	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15109	28725591	49351657	17329	25041											
DSG1	1828	broad.mit.edu	37	chr18	28934818	28934818	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttagagatgcctgacttgCgagatgggtcgaatgttata	13	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28934818C>T	ENST00000257192.4	+	15	2871	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Nonsense_Mutation_p.R246*	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	887					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCCTGACTTGCGAGATGGGTC	0.478													False	0	False	18:28934818	0	T	28934818	C	T	28934818	4	4	88	1	0	0	0	0	0	1	0	0	4806	760	27	1	2717	1	DSG1	18	28934818	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209227	28934818	49142430	17330	25042											
DSG1	1828	broad.mit.edu	37	chr18	28935055	28935055	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgtaactggaattagtGgcaccactgggatcagcggt	14	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28935055G>T	ENST00000257192.4	+	15	3108	c.2896G>T	c.(2896-2898)Ggc>Tgc	p.G966C	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G325C	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	966					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGAATTAGTGGCACCACTGG	0.567													False	0	False	18:28935055	0	T	28935055	G	T	28935055	3	4	88	1	0	0	0	0	1	0	0	0	4806	1348	47	3	2954	3	DSG1	18	28935055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237	28935055	49142193	17331	25043											
DSG4	147409	broad.mit.edu	37	chr18	28983528	28983528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaacattcttatgggtctCcgtttactttctgtgttgtt	8	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28983528C>T	ENST00000359747.4	+	11	1596	c.1567C>T	c.(1567-1569)Ccg>Tcg	p.P523S	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P523S	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	523					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTATGGGTCTCCGTTTACTTT	0.383													False	0	False	18:28983528	0	T	28983528	C	T	28983528	3	4	88	1	0	0	0	0	1	0	0	0	4809	855	30	2	1609	2	DSG4	18	28983528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48473	28983528	49093720	17332	25044											
DSG4	147409	broad.mit.edu	37	chr18	28992915	28992915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagttggattgtggatgActtagatgaaagctgcatgg	14	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28992915A>G	ENST00000359747.4	+	15	2566	c.2537A>G	c.(2536-2538)gAc>gGc	p.D846G	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.D827G	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	827					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTGTGGATGACTTAGATGAA	0.453													False	0	False	18:28992915	0	G	28992915	A	G	28992915	3	3	88	1	0	0	0	0	1	0	0	0	4809	275	10	4	2663	4	DSG4	18	28992915	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9387	28992915	49084333	17333	25045											
DSG3	1830	broad.mit.edu	37	chr18	29055872	29055872	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcggttatgggattgaatcCtgtggccatcccatagaagt	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29055872C>A	ENST00000257189.4	+	16	2732	c.2649C>A	c.(2647-2649)tcC>tcA	p.S883S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	883					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGATTGAATCCTGTGGCCATC	0.473													False	0	False	18:29055872	0	A	29055872	C	A	29055872	2	1	88	1	0	0	0	0	0	0	0	1	4808	668	24	3		3	DSG3	18	29055872	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62957	29055872	49021376	17334	25046											
DSG2	1829	broad.mit.edu	37	chr18	29115361	29115361	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatacactgtaaagattgTggccatatcagaaggtaagt	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29115361T>C	ENST00000261590.8	+	10	1618	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	470	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTAAAGATTGTGGCCATATCA	0.299													False	0	False	18:29115361	0	C	29115361	T	C	29115361	3	2	88	1	0	0	0	0	1	0	0	0	4807	1696	59	4	1447	4	DSG2	18	29115361	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59489	29115361	48961887	17335	25047											
DSG2	1829	broad.mit.edu	37	chr18	29118725	29118725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgtaggtaccagtgtgCtgctgcaacaaagtgagaaa	11	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29118725C>T	ENST00000261590.8	+	12	1872	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	555					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TACCAGTGTGCTGCTGCAACA	0.413													False	0	True	18:29118725	0	T	29118725	C	T	29118725	2	4	88	1	0	0	0	0	0	0	0	1	4807	796	28	2		2	DSG2	18	29118725	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3364	29118725	48958523	17336	25048											
KLHL14	57565	broad.mit.edu	37	chr18	30321972	30321972	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggtccggtccaggaggcaGccctccaaccaataacagca	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30321972G>T	ENST00000359358.4	-	3	1426	c.988C>A	c.(988-990)Ctg>Atg	p.L330M	KLHL14_ENST00000358095.4_Missense_Mutation_p.L330M	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	330						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCAGGAGGCAGCCCTCCAACC	0.418													False	0	True	18:30321972	0	T	30321972	G	T	30321972	3	4	88	1	0	0	0	0	1	0	0	0	8420	962	34	3	926	3	KLHL14	18	30321972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1203247	30321972	47755276	17337	25049											
KLHL14	57565	broad.mit.edu	37	chr18	30349761	30349761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccgggatgagggcgaagCggaggcgcttcatgaggtca	20	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30349761C>T	ENST00000359358.4	-	2	1232	c.794G>A	c.(793-795)cGc>cAc	p.R265H	AC012123.1_ENST00000426194.1_5'UTR|KLHL14_ENST00000358095.4_Missense_Mutation_p.R265H	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	265	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GAGGGCGAAGCGGAGGCGCTT	0.657													False	0	False	18:30349761	0	T	30349761	C	T	30349761	3	4	88	1	0	0	0	0	1	0	0	0	8420	768	27	1	1124	1	KLHL14	18	30349761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27789	30349761	47727487	17338	25050											
KLHL14	57565	broad.mit.edu	37	chr18	30350152	30350152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtactcgagcaccaggcgcaGcccgatggacgagcagccct	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30350152G>T	ENST00000359358.4	-	2	841	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.L135M	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	135	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACCAGGCGCAGCCCGATGGAC	0.657													False	0	True	18:30350152	0	T	30350152	G	T	30350152	3	4	88	1	0	0	0	0	1	0	0	0	8420	962	34	3	1515	3	KLHL14	18	30350152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	391	30350152	47727096	17339	25051											
KLHL14	57565	broad.mit.edu	37	chr18	30350182	30350182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcagccctgcagcaccaGgttgttgatggcccgggggc	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30350182G>A	ENST00000359358.4	-	2	811	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.L125L	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	125	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGCAGCACCAGGTTGTTGATG	0.682													False	0	False	18:30350182	0	A	30350182	G	A	30350182	2	1	88	1	0	0	0	0	0	0	0	1	8420	991	35	2		2	KLHL14	18	30350182	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	30350182	47727066	17340	25052											
ASXL3	80816	broad.mit.edu	37	chr18	31324318	31324318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcttggacctgcagggCagaccagtgaggacagaggc	16	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31324318C>T	ENST00000269197.5	+	12	4506	c.4506C>T	c.(4504-4506)ggC>ggT	p.G1502G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCTGCAGGGCAGACCAGTGA	0.552											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	18:31324318	0	T	31324318	C	T	31324318	2	4	88	1	0	0	0	0	0	0	0	1	1072	697	25	2		2	ASXL3	18	31324318	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	974136	31324318	46752930	17341	25053											
ASXL3	80816	broad.mit.edu	37	chr18	31325027	31325027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcagggagctcaggctgtCgtctgtcctctgtggaggct	16	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31325027C>T	ENST00000269197.5	+	12	5215	c.5215C>T	c.(5215-5217)Cgt>Tgt	p.R1739C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCAGGCTGTCGTCTGTCCTC	0.542													False	0	False	18:31325027	0	T	31325027	C	T	31325027	3	4	88	1	0	0	0	0	1	0	0	0	1072	884	31	1	5261	1	ASXL3	18	31325027	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	709	31325027	46752221	17342	25054											
ASXL3	80816	broad.mit.edu	37	chr18	31326314	31326314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgagtttcaaaagggcaGcatctgcaattgaaaagtcc	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31326314G>A	ENST00000269197.5	+	12	6502	c.6502G>A	c.(6502-6504)Gca>Aca	p.A2168T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAAAAGGGCAGCATCTGCAAT	0.473													False	0	False	18:31326314	0	A	31326314	G	A	31326314	3	1	88	1	0	0	0	0	1	0	0	0	1072	971	34	2	6548	2	ASXL3	18	31326314	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1287	31326314	46750934	17343	25055											
NOL4	8715	broad.mit.edu	37	chr18	31463241	31463241	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcattcagatttagcagacCccctcctagccctctgtaac	5	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31463241C>G	ENST00000261592.5	-	10	1987	c.1690G>C	c.(1690-1692)Ggt>Cgt	p.G564R	NOL4_ENST00000535384.1_Missense_Mutation_p.G279R|NOL4_ENST00000535475.1_Missense_Mutation_p.G345R|NOL4_ENST00000589544.1_Missense_Mutation_p.G462R|NOL4_ENST00000538587.1_Missense_Mutation_p.G490R|NOL4_ENST00000269185.4_Missense_Mutation_p.G348R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	564						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TTTAGCAGACCCCCTCCTAGC	0.408													False	0	True	18:31463241	0	G	31463241	C	G	31463241	3	3	88	1	0	0	0	0	1	0	0	0	10592	623	22	5	234	5	NOL4	18	31463241	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136927	31463241	46614007	17344	25056											
NOL4	8715	broad.mit.edu	37	chr18	31523032	31523032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagatgcctcagtacctgCtgtctctccagacgcatcct	7	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31523032C>T	ENST00000261592.5	-	9	1836	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	NOL4_ENST00000535384.1_Silent_p.Q228Q|NOL4_ENST00000535475.1_Silent_p.Q294Q|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Silent_p.Q439Q|NOL4_ENST00000269185.4_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	513						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCAGTACCTGCTGTCTCTCCA	0.433													False	0	False	18:31523032	0	T	31523032	C	T	31523032	2	4	88	1	0	0	0	0	0	0	0	1	10592	796	28	2		2	NOL4	18	31523032	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59791	31523032	46554216	17345	25057											
NOL4	8715	broad.mit.edu	37	chr18	31537445	31537445	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagagattgggaccattcGgtccaagttttcatctacaa	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31537445G>A	ENST00000261592.5	-	8	1570	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	NOL4_ENST00000535384.1_Nonsense_Mutation_p.R140*|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Nonsense_Mutation_p.R351*|NOL4_ENST00000269185.4_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	425						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGGACCATTCGGTCCAAGTTT	0.488													False	0	False	18:31537445	0	A	31537445	G	A	31537445	4	1	88	1	0	0	0	0	0	1	0	0	10592	1124	39	1	659	1	NOL4	18	31537445	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14413	31537445	46539803	17346	25058											
MAPRE2	10982	broad.mit.edu	37	chr18	32681940	32681940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagaagctagtgaaaggaCgtttccaggacaacctggat	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32681940C>T	ENST00000436190.2	+	5	665	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	MAPRE2_ENST00000300249.5_Missense_Mutation_p.R143C|MAPRE2_ENST00000589699.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000413393.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000588910.1_Missense_Mutation_p.R143C|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R90C	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	143	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						AGTGAAAGGACGTTTCCAGGA	0.398													False	0	False	18:32681940	0	T	32681940	C	T	32681940	3	4	88	1	0	0	0	0	1	0	0	0	9362	536	19	1	535	1	MAPRE2	18	32681940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1144495	32681940	45395308	17347	25059											
MAPRE2	10982	broad.mit.edu	37	chr18	32720277	32720277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagggccacacagaagagCcggaagcagaggagcaagcc	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32720277C>T	ENST00000436190.2	+	8	1166	c.892C>T	c.(892-894)Ccg>Tcg	p.P298S	MAPRE2_ENST00000300249.5_Missense_Mutation_p.P310S|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257S	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	310	APC-binding.|DCTN1-binding.|EB1 C-terminal.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CACAGAAGAGCCGGAAGCAGA	0.602													False	0	False	18:32720277	0	T	32720277	C	T	32720277	3	4	88	1	0	0	0	0	1	0	0	0	9362	739	26	2	1048	2	MAPRE2	18	32720277	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38337	32720277	45356971	17348	25060											
ZNF24	7572	broad.mit.edu	37	chr18	32917607	32917607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgcccttggggaaacaGgtttctccatatttaaaaat	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32917607G>A	ENST00000261332.6	-	4	875	c.696C>T	c.(694-696)acC>acT	p.T232T	ZNF24_ENST00000399061.3_Silent_p.T232T|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	232					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGGGGAAACAGGTTTCTCCAT	0.433													False	0	False	18:32917607	0	A	32917607	G	A	32917607	2	1	88	1	0	0	0	0	0	0	0	1	17875	987	35	2		2	ZNF24	18	32917607	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197330	32917607	45159641	17349	25061											
ZNF24	7572	broad.mit.edu	37	chr18	32920370	32920370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttgtgtgcgtctctggcCtgagccacagacggcaaagt	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32920370C>A	ENST00000589881.1	-	1	248	c.245G>T	c.(244-246)aGg>aTg	p.R82M	ZNF24_ENST00000261332.6_Missense_Mutation_p.R82M|ZNF24_ENST00000399061.3_Missense_Mutation_p.R82M			P17028	ZNF24_HUMAN	zinc finger protein 24	82	SCAN box.				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						CGTCTCTGGCCTGAGCCACAG	0.532													False	0	False	18:32920370	0	A	32920370	C	A	32920370	3	1	88	1	0	0	0	0	1	0	0	0	17875	681	24	3	873	3	ZNF24	18	32920370	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2763	32920370	45156878	17350	25062											
INO80C	125476	broad.mit.edu	37	chr18	33060428	33060428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgcttaccacaaagttggGatccttaaatggcaaaggtt	10	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33060428G>A	ENST00000592173.1	-	2	314	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	INO80C_ENST00000590757.1_Intron|INO80C_ENST00000334598.7_Missense_Mutation_p.P86S|RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000441607.2_Missense_Mutation_p.P122S|INO80C_ENST00000586489.1_Missense_Mutation_p.P31S			Q6PI98	IN80C_HUMAN	INO80 complex subunit C	86					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						ACAAAGTTGGGATCCTTAAAT	0.488													False	0	True	18:33060428	0	A	33060428	G	A	33060428	3	1	88	1	0	0	0	0	1	0	0	0	7798	1174	41	2	338	2	INO80C	18	33060428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140058	33060428	45016820	17351	25063											
GALNT1	2589	broad.mit.edu	37	chr18	33234660	33234660	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catactgcaaggtggtcctaGccacctccttgatttgggta	10	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33234660G>T	ENST00000269195.5	+	1	137	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S	GALNT1_ENST00000591081.1_Missense_Mutation_p.A12S|GALNT1_ENST00000537549.1_5'UTR	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	12					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GGTGGTCCTAGCCACCTCCTT	0.348													False	0	False	18:33234660	0	T	33234660	G	T	33234660	3	4	88	1	0	0	0	0	1	0	0	0	6250	971	34	3	36	3	GALNT1	18	33234660	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174232	33234660	44842588	17352	25064											
C18orf21	83608	broad.mit.edu	37	chr18	33557545	33557545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggctcgaaaggcaagaGcccagcatcggttttcaggt	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33557545G>A	ENST00000592875.1	+	4	1119	c.473G>A	c.(472-474)aGc>aAc	p.S158N	C18orf21_ENST00000333234.5_Missense_Mutation_p.S70N	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	158										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						AAAGGCAAGAGCCCAGCATCG	0.413													False	0	True	18:33557545	0	A	33557545	G	A	33557545	3	1	88	1	0	0	0	0	1	0	0	0	1911	971	34	2	487	2	C18orf21	18	33557545	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	322885	33557545	44519703	17353	25065											
SLC39A6	25800	broad.mit.edu	37	chr18	33706952	33706953	+	In_Frame_Ins	INS	-	-	TTCAAA													aaggtcaggatcaagattacINSagataacttcctcgccattg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33706952_33706953insTTCAAA	ENST00000590986.1	-	2	307_308	c.18_19insTTTGAA	c.(16-21)tctgta>tctTTTGAAgta	p.6_7SV>SFEV	SLC39A6_ENST00000269187.5_In_Frame_Ins_p.6_7SV>SFEV|SLC39A6_ENST00000440549.2_Intron			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	6						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						ATCAAGATTACAGATAACTTCC	0.396													False	0	False	18:33706952	0	TTCAAA	33706953	-	TTCAAA	33706952	7	5	88	1	0	1	1	0	0	0	0	0	14702	478	17	0	2296	0	SLC39A6	18	33706952	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	149407	33706952	44370296	17354	25066											
MOCOS	55034	broad.mit.edu	37	chr18	33780166	33780166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttcctacaggcctgggcGctctgctggtccataatcgt	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33780166G>A	ENST00000261326.5	+	4	841	c.820G>A	c.(820-822)Gct>Act	p.A274T		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	274					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AGGCCTGGGCGCTCTGCTGGT	0.562													False	0	False	18:33780166	0	A	33780166	G	A	33780166	3	1	88	1	0	0	0	0	1	0	0	0	9756	1087	38	1	834	1	MOCOS	18	33780166	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73214	33780166	44297082	17355	25067											
MOCOS	55034	broad.mit.edu	37	chr18	33795562	33795562	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcatttggatacatgtcGacgctggatgatgtccaggc	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33795562G>A	ENST00000261326.5	+	8	1440	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	473					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GATACATGTCGACGCTGGATG	0.542													False	0	False	18:33795562	0	A	33795562	G	A	33795562	2	1	88	1	0	0	0	0	0	0	0	1	9756	1045	37	1		1	MOCOS	18	33795562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15396	33795562	44281686	17356	25068											
FHOD3	80206	broad.mit.edu	37	chr18	33935590	33935590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgggatgagttggaagGcttccaggatgacgccgggt	18	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33935590G>A	ENST00000257209.4	+	2	376	c.254G>A	c.(253-255)gGc>gAc	p.G85D	FHOD3_ENST00000359247.4_Missense_Mutation_p.G85D|FHOD3_ENST00000445677.1_Missense_Mutation_p.G85D|FHOD3_ENST00000590592.1_Missense_Mutation_p.G85D	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	85	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAGTTGGAAGGCTTCCAGGAT	0.547													False	0	False	18:33935590	0	A	33935590	G	A	33935590	3	1	88	1	0	0	0	0	1	0	0	0	5923	1203	42	2	260	2	FHOD3	18	33935590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140028	33935590	44141658	17357	25069											
FHOD3	80206	broad.mit.edu	37	chr18	34205676	34205676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcccagtcagctcccaGcttcaagcccaaccaagtgc	7	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34205676G>A	ENST00000257209.4	+	10	1282	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	FHOD3_ENST00000591635.1_Missense_Mutation_p.A62T|FHOD3_ENST00000359247.4_Missense_Mutation_p.S387N|FHOD3_ENST00000445677.1_Missense_Mutation_p.S387N|FHOD3_ENST00000590592.1_Missense_Mutation_p.S387N	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	387	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCAGCTCCCAGCTTCAAGCCC	0.607													False	0	False	18:34205676	0	A	34205676	G	A	34205676	3	1	88	1	0	0	0	0	1	0	0	0	5923	971	34	2	1198	2	FHOD3	18	34205676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270086	34205676	43871572	17358	25070											
FHOD3	80206	broad.mit.edu	37	chr18	34289191	34289191	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagactgaagtggagcaggcActagagcaagagccggaaga	16	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34289191A>G	ENST00000257209.4	+	15	1967	c.1845A>G	c.(1843-1845)gcA>gcG	p.A615A	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000359247.4_Silent_p.A598A|FHOD3_ENST00000445677.1_Silent_p.A577A|FHOD3_ENST00000590592.1_Silent_p.A790A	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	598					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TGGAGCAGGCACTAGAGCAAG	0.602													False	0	False	18:34289191	0	G	34289191	A	G	34289191	2	3	88	1	0	0	0	0	0	0	0	1	5923	146	6	4		4	FHOD3	18	34289191	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83515	34289191	43788057	17359	25071											
FHOD3	80206	broad.mit.edu	37	chr18	34310720	34310720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaggacgattaagatcGccattttgaattttgatgag	9	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34310720G>A	ENST00000257209.4	+	17	3126	c.3004G>A	c.(3004-3006)Gcc>Acc	p.A1002T	FHOD3_ENST00000591635.1_Missense_Mutation_p.A198T|FHOD3_ENST00000359247.4_Missense_Mutation_p.A985T|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000445677.1_Missense_Mutation_p.A964T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1177T	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	985	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GATTAAGATCGCCATTTTGAA	0.398													False	0	False	18:34310720	0	A	34310720	G	A	34310720	3	1	88	1	0	0	0	0	1	0	0	0	5923	1087	38	1	3070	1	FHOD3	18	34310720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21529	34310720	43766528	17360	25072											
KIAA1328	57536	broad.mit.edu	37	chr18	34802046	34802046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcgcccaaacctcagcgCtatccctccagagaagctgg	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34802046C>T	ENST00000591619.1	+	10	2364	c.1578C>T	c.(1576-1578)cgC>cgT	p.R526R	KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000280020.5_Silent_p.R530R|KIAA1328_ENST00000543923.1_Silent_p.R422R			Q86T90	K1328_HUMAN	KIAA1328	530										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AACCTCAGCGCTATCCCTCCA	0.498													False	0	False	18:34802046	0	T	34802046	C	T	34802046	2	4	88	1	0	0	0	0	0	0	0	1	8275	784	28	2		2	KIAA1328	18	34802046	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	491326	34802046	43275202	17361	25073											
KIAA1328	57536	broad.mit.edu	37	chr18	34802090	34802090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggaatcatggtactttccGactcagtcctctaaaatcaa	6	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34802090G>A	ENST00000591619.1	+	10	2408	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000280020.5_Missense_Mutation_p.R545Q|KIAA1328_ENST00000543923.1_Intron			Q86T90	K1328_HUMAN	KIAA1328	545										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGTACTTTCCGACTCAGTCCT	0.478													False	0	False	18:34802090	0	A	34802090	G	A	34802090	3	1	88	1	0	0	0	0	1	0	0	0	8275	1058	37	1	1672	1	KIAA1328	18	34802090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	34802090	43275158	17362	25074											
CELF4	56853	broad.mit.edu	37	chr18	34839169	34839169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggaacatctgcatcagCtcagcgtccccaaactcctg	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34839169C>T	ENST00000420428.2	-	11	1703	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	CELF4_ENST00000588597.1_Silent_p.E424E|CELF4_ENST00000603232.1_Silent_p.E435E|CELF4_ENST00000601019.1_Silent_p.E434E|CELF4_ENST00000591287.1_Silent_p.E434E|CELF4_ENST00000361795.5_Silent_p.E434E|CELF4_ENST00000412753.1_Silent_p.E435E|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000591282.1_Silent_p.E436E	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	436	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TCTGCATCAGCTCAGCGTCCC	0.562													False	0	True	18:34839169	0	T	34839169	C	T	34839169	2	4	88	1	0	0	0	0	0	0	0	1	3241	796	28	2		2	CELF4	18	34839169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37079	34839169	43238079	17363	25075											
CELF4	56853	broad.mit.edu	37	chr18	34853000	34853000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggttggggtcataggtgCggccgccaggccattcatgt	16	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34853000C>T	ENST00000420428.2	-	7	1323	c.928G>A	c.(928-930)Gca>Aca	p.A310T	CELF4_ENST00000588597.1_Missense_Mutation_p.A299T|CELF4_ENST00000603232.1_Missense_Mutation_p.A309T|CELF4_ENST00000601019.1_Missense_Mutation_p.A308T|CELF4_ENST00000591287.1_Missense_Mutation_p.A309T|CELF4_ENST00000361795.5_Missense_Mutation_p.A308T|CELF4_ENST00000412753.1_Missense_Mutation_p.A309T|CELF4_ENST00000334919.5_Missense_Mutation_p.A300T|CELF4_ENST00000591282.1_Missense_Mutation_p.A310T	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	310	Ala-rich.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GTCATAGGTGCGGCCGCCAGG	0.657													False	0	False	18:34853000	0	T	34853000	C	T	34853000	3	4	88	1	0	0	0	0	1	0	0	0	3241	768	27	1	556	1	CELF4	18	34853000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13831	34853000	43224248	17364	25076											
PIK3C3	5289	broad.mit.edu	37	chr18	39620653	39620653	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtaggcttcatgcagtTtatccagtcagttcctgtgg	11	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:39620653T>G	ENST00000262039.4	+	19	2137	c.2051T>G	c.(2050-2052)tTt>tGt	p.F684C	PIK3C3_ENST00000589056.1_Missense_Mutation_p.F31C|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F169C|PIK3C3_ENST00000587402.1_Missense_Mutation_p.F31C|PIK3C3_ENST00000398870.3_Missense_Mutation_p.F621C	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	684	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTCATGCAGTTTATCCAGTCA	0.358										TSP Lung(28;0.18)			False	0	True	18:39620653	0	G	39620653	T	G	39620653	3	3	88	1	0	0	0	0	1	0	0	0	11981	1841	64	4	2125	4	PIK3C3	18	39620653	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4767653	39620653	38456595	17365	25077											
PIK3C3	5289	broad.mit.edu	37	chr18	39623705	39623705	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtcttttcagaactttttTagaaaatatgcaccaagtga	6	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:39623705T>A	ENST00000262039.4	+	20	2198	c.2112T>A	c.(2110-2112)ttT>ttA	p.F704L	PIK3C3_ENST00000589056.1_Missense_Mutation_p.F51L|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F189L|PIK3C3_ENST00000587402.1_Missense_Mutation_p.F51L|PIK3C3_ENST00000398870.3_Missense_Mutation_p.F641L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	704	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGAACTTTTTTAGAAAATATG	0.338										TSP Lung(28;0.18)			False	0	True	18:39623705	0	A	39623705	T	A	39623705	3	1	88	1	0	0	0	0	1	0	0	0	11981	1751	61	5	2190	5	PIK3C3	18	39623705	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3052	39623705	38453543	17366	25078											
SYT4	6860	broad.mit.edu	37	chr18	40853651	40853651	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgatatcatctcttgaaAacctgtcaaaactcaaaatt	3	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:40853651A>C	ENST00000255224.3	-	2	1111	c.743T>G	c.(742-744)tTt>tGt	p.F248C	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.F230C	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	248	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						ATCTCTTGAAAACCTGTCAAA	0.368													False	0	True	18:40853651	0	C	40853651	A	C	40853651	3	2	88	1	0	0	0	0	1	0	0	0	15558	14	1	4	546	4	SYT4	18	40853651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1229946	40853651	37223597	17367	25079											
SYT4	6860	broad.mit.edu	37	chr18	40853833	40853833	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atatatgggtcagaggtcatCgactgctcatccatggctgg	12	9	3	1	rs138240289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:40853833C>T	ENST00000255224.3	-	2	929	c.561G>A	c.(559-561)tcG>tcA	p.S187S	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.S169S	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	187	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGAGGTCATCGACTGCTCAT	0.443													False	0	False	18:40853833	0	T	40853833	C	T	40853833	2	4	88	1	0	0	0	0	0	0	0	1	15558	871	31	1		1	SYT4	18	40853833	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182	40853833	37223415	17368	25080											
SETBP1	26040	broad.mit.edu	37	chr18	42531860	42531860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctccctaaaggaaatcaCgctgtcccctgtgagcgagt	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:42531860C>T	ENST00000282030.5	+	4	2851	c.2555C>T	c.(2554-2556)aCg>aTg	p.T852M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	852						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGGAAATCACGCTGTCCCCT	0.562									Schinzel-Giedion syndrome				False	0	False	18:42531860	0	T	42531860	C	T	42531860	3	4	88	1	0	0	0	0	1	0	0	0	14210	536	19	1	2758	1	SETBP1	18	42531860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1678027	42531860	35545388	17369	25081											
SETBP1	26040	broad.mit.edu	37	chr18	42643106	42643106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccatccagtgcgaagtgCggaagatgtgcaactacacc	11	11	0	1	rs145996171	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:42643106C>T	ENST00000282030.5	+	6	4530	c.4234C>T	c.(4234-4236)Cgg>Tgg	p.R1412W		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1412						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTGCGAAGTGCGGAAGATGTG	0.532									Schinzel-Giedion syndrome				False	0	False	18:42643106	0	T	42643106	C	T	42643106	3	4	88	1	0	0	0	0	1	0	0	0	14210	759	27	1	4445	1	SETBP1	18	42643106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111246	42643106	35434142	17370	25082											
SLC14A2	8170	broad.mit.edu	37	chr18	43224100	43224100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactacctgacagtgaaaagCggtgaagaagagaaggcccc	12	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43224100C>T	ENST00000255226.6	+	10	2142	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	SLC14A2_ENST00000586448.1_Silent_p.S442S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	442						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGAAAAGCGGTGAAGAAG	0.547													False	0	False	18:43224100	0	T	43224100	C	T	43224100	2	4	88	1	0	0	0	0	0	0	0	1	14478	767	27	1		1	SLC14A2	18	43224100	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	580994	43224100	34853148	17371	25083											
SLC14A2	8170	broad.mit.edu	37	chr18	43262376	43262376	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgccatctacaagctcccGctcagcaaagtcacctaccc	5	20	3	0	rs143610580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43262376G>T	ENST00000255226.6	+	20	3471	c.2655G>T	c.(2653-2655)ccG>ccT	p.P885P	SLC14A2_ENST00000589658.1_Silent_p.P362P|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.P885P	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	885						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.P885P(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAAGCTCCCGCTCAGCAAAG	0.542													False	0	True	18:43262376	0	T	43262376	G	T	43262376	2	4	88	1	0	0	0	0	0	0	0	1	14478	1074	38	3		3	SLC14A2	18	43262376	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38276	43262376	34814872	17372	25084											
ATP5A1	498	broad.mit.edu	37	chr18	43669626	43669626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtctgcattggttcccGcactgaaattcgaggaatga	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43669626G>A	ENST00000593152.2	-	5	945	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	ATP5A1_ENST00000590665.1_Missense_Mutation_p.R164W|ATP5A1_ENST00000282050.2_Missense_Mutation_p.R186W|ATP5A1_ENST00000398752.6_Missense_Mutation_p.R186W	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	186					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						ATTGGTTCCCGCACTGAAATT	0.478													False	0	True	18:43669626	0	A	43669626	G	A	43669626	3	1	88	1	0	0	0	0	1	0	0	0	1151	1086	38	1	1137	1	ATP5A1	18	43669626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407250	43669626	34407622	17373	25085											
ATP5A1	498	broad.mit.edu	37	chr18	43669671	43669671	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctttcagaccaactcGcctacgcgtcttggaaccaa	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43669671G>A	ENST00000593152.2	-	5	900	c.361C>T	c.(361-363)Cga>Tga	p.R121*	ATP5A1_ENST00000590665.1_Nonsense_Mutation_p.R149*|ATP5A1_ENST00000282050.2_Nonsense_Mutation_p.R171*|ATP5A1_ENST00000398752.6_Nonsense_Mutation_p.R171*	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	171					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AGACCAACTCGCCTACGCGTC	0.438													False	0	False	18:43669671	0	A	43669671	G	A	43669671	4	1	88	1	0	0	0	0	0	1	0	0	1151	1095	38	1	1182	1	ATP5A1	18	43669671	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	43669671	34407577	17374	25086											
C18orf25	147339	broad.mit.edu	37	chr18	43842923	43842923	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaggtggtgtgattcagAgtgtttcttcatggaagcat	13	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43842923A>T	ENST00000282059.6	+	5	1428	c.1054A>T	c.(1054-1056)Agt>Tgt	p.S352C	C18orf25_ENST00000321319.6_Missense_Mutation_p.S291C	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	352										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TGTGATTCAGAGTGTTTCTTC	0.483													False	0	False	18:43842923	0	T	43842923	A	T	43842923	3	4	88	1	0	0	0	0	1	0	0	0	1913	304	11	5	1068	5	C18orf25	18	43842923	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	173252	43842923	34234325	17375	25087											
RNF165	494470	broad.mit.edu	37	chr18	44035936	44035936	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactctctctgcttctcataGcgaagaccccaggatggcaa	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44035936G>T	ENST00000269439.7	+	7	867		c.e7-1		RNF165_ENST00000543885.1_Splice_Site	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165								zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCTTCTCATAGCGAAGACCCC	0.522													False	0	False	18:44035936	0	T	44035936	G	T	44035936	5	4	88	1	0	0	0	0	0	0	1	0	13535	985	34	3	842	3	RNF165	18	44035936	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193013	44035936	34041312	17376	25088											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260357	44260357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccagcacgtacttgacgCggatggacacgtcggtgttg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44260357C>T	ENST00000315087.7	-	7	1439	c.779G>A	c.(778-780)cGc>cAc	p.R260H	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R229H|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R296H	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	260					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GTACTTGACGCGGATGGACAC	0.612													False	0	False	18:44260357	0	T	44260357	C	T	44260357	3	4	88	1	0	0	0	0	1	0	0	0	15317	768	27	1	355	1	ST8SIA5	18	44260357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224421	44260357	33816891	17377	25089											
ST8SIA5	29906	broad.mit.edu	37	chr18	44336397	44336397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaggtcaccaaggcaaaGgcgcagatgaagatgaagag	14	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44336397G>A	ENST00000315087.7	-	1	735	c.75C>T	c.(73-75)gcC>gcT	p.A25A	ST8SIA5_ENST00000536490.1_Silent_p.A25A|ST8SIA5_ENST00000538168.1_Silent_p.A25A	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	25					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCAAGGCAAAGGCGCAGATGA	0.612													False	0	True	18:44336397	0	A	44336397	G	A	44336397	2	1	88	1	0	0	0	0	0	0	0	1	15317	987	35	2		2	ST8SIA5	18	44336397	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76040	44336397	33740851	17378	25090											
PIAS2	9063	broad.mit.edu	37	chr18	44470643	44470643	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaattgggggagatggctgCtgcatctcaaatgtgggctt	16	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44470643C>A	ENST00000585916.1	-	2	398	c.399G>T	c.(397-399)caG>caT	p.Q133H	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Missense_Mutation_p.Q133H	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	133					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GAGATGGCTGCTGCATCTCAA	0.473													False	0	False	18:44470643	0	A	44470643	C	A	44470643	3	1	88	1	0	0	0	0	1	0	0	0	11945	796	28	3	1593	3	PIAS2	18	44470643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134246	44470643	33606605	17379	25091											
PIAS2	9063	broad.mit.edu	37	chr18	44470901	44470901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaccgcagggctgcagccGctcttcaataaatgcagcgc	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44470901G>A	ENST00000585916.1	-	2	140	c.141C>T	c.(139-141)agC>agT	p.S47S	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Silent_p.S47S	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	47					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GGCTGCAGCCGCTCTTCAATA	0.443													False	0	False	18:44470901	0	A	44470901	G	A	44470901	2	1	88	1	0	0	0	0	0	0	0	1	11945	1078	38	1		1	PIAS2	18	44470901	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	258	44470901	33606347	17380	25092											
TCEB3CL	728929	broad.mit.edu	37	chr18	44549187	44549187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggtacggctgatcgggcGtccacccttccagaacgggt	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44549187G>A	ENST00000451265.1	-	1	1347	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like									p.T371M(1)		central_nervous_system(1)|lung(1)|prostate(1)	3						CTGATCGGGCGTCCACCCTTC	0.587													False	0	False	18:44549187	0	A	44549187	G	A	44549187	3	1	88	1	0	0	0	0	1	0	0	0	15766	1145	40	1	2175	1	TCEB3CL	18	44549187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78286	44549187	33528061	17381	25093											
TCEB3CL	728929	broad.mit.edu	37	chr18	44549200	44549200	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcgggcgtccacccttccaGaacgggttcaagaaccgagt	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44549200G>T	ENST00000451265.1	-	1	1334	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						CACCCTTCCAGAACGGGTTCA	0.612													False	0	False	18:44549200	0	T	44549200	G	T	44549200	3	4	88	1	0	0	0	0	1	0	0	0	15766	933	33	3	2188	3	TCEB3CL	18	44549200	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	44549200	33528048	17382	25094											
TCEB3B	51224	broad.mit.edu	37	chr18	44559411	44559411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcttgtagtctcgaattGccttggccatcagcggggcc	11	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44559411G>A	ENST00000332567.4	-	1	2577	c.2225C>T	c.(2224-2226)gCa>gTa	p.A742V	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	742					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTCTCGAATTGCCTTGGCCAT	0.567													False	0	False	18:44559411	0	A	44559411	G	A	44559411	3	1	88	1	0	0	0	0	1	0	0	0	15764	1319	46	2	40	2	TCEB3B	18	44559411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10211	44559411	33517837	17383	25095											
TCEB3B	51224	broad.mit.edu	37	chr18	44560824	44560824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaggctgcctgtccctgGcacttgcccaggagggcatc	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44560824G>T	ENST00000332567.4	-	1	1164	c.812C>A	c.(811-813)gCc>gAc	p.A271D	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	271					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTGTCCCTGGCACTTGCCCA	0.607													False	0	False	18:44560824	0	T	44560824	G	T	44560824	3	4	88	1	0	0	0	0	1	0	0	0	15764	1203	42	3	1453	3	TCEB3B	18	44560824	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1413	44560824	33516424	17384	25096											
TCEB3B	51224	broad.mit.edu	37	chr18	44561072	44561072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccgggttgcttcccgggCgcagcgggctcagggccctc	15	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44561072C>T	ENST00000332567.4	-	1	916	c.564G>A	c.(562-564)gcG>gcA	p.A188A	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	188					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTTCCCGGGCGCAGCGGGCT	0.692													False	0	True	18:44561072	0	T	44561072	C	T	44561072	2	4	88	1	0	0	0	0	0	0	0	1	15764	755	27	1		1	TCEB3B	18	44561072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248	44561072	33516176	17385	25097											
HDHD2	84064	broad.mit.edu	37	chr18	44662797	44662797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaacagcttttaatgcaCggcatgctgccatccttcat	6	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44662797C>T	ENST00000300605.6	-	2	166	c.14G>A	c.(13-15)cGt>cAt	p.R5H	IER3IP1_ENST00000588705.1_3'UTR|HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	5							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TTTTAATGCACGGCATGCTGC	0.408													False	0	False	18:44662797	0	T	44662797	C	T	44662797	3	4	88	1	0	0	0	0	1	0	0	0	7070	536	19	1	789	1	HDHD2	18	44662797	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101725	44662797	33414451	17386	25098											
SMAD7	4092	broad.mit.edu	37	chr18	46448083	46448083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcagccgattttgctccGcaccttctgcaccagctgac	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46448083G>A	ENST00000262158.2	-	4	1226	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Missense_Mutation_p.R313W|SMAD7_ENST00000591805.1_Missense_Mutation_p.R99W	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	314	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ATTTTGCTCCGCACCTTCTGC	0.557													False	0	False	18:46448083	0	A	46448083	G	A	46448083	3	1	88	1	0	0	0	0	1	0	0	0	14843	1086	38	1	344	1	SMAD7	18	46448083	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1785286	46448083	31629165	17387	25099											
SMAD7	4092	broad.mit.edu	37	chr18	46448237	46448237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcccagtatgccaccacGcaccagtgtgaccgatcccc	7	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46448237G>A	ENST00000262158.2	-	4	1072	c.786C>T	c.(784-786)tgC>tgT	p.C262C	SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Silent_p.C261C|SMAD7_ENST00000591805.1_Silent_p.C47C	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	262	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	p.C262C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ATGCCACCACGCACCAGTGTG	0.537													False	0	False	18:46448237	0	A	46448237	G	A	46448237	2	1	88	1	0	0	0	0	0	0	0	1	14843	1079	38	1		1	SMAD7	18	46448237	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154	46448237	31629011	17388	25100											
DYM	54808	broad.mit.edu	37	chr18	46808509	46808509	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aactattaaagttgatctggAaggcatgtggaattgatgag	12	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46808509A>T	ENST00000269445.6	-	10	1440	c.983T>A	c.(982-984)tTc>tAc	p.F328Y	DYM_ENST00000442713.2_Missense_Mutation_p.F138Y	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	328						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GTTGATCTGGAAGGCATGTGG	0.363													False	0	False	18:46808509	0	T	46808509	A	T	46808509	3	4	88	1	0	0	0	0	1	0	0	0	4870	246	9	5	1058	5	DYM	18	46808509	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	360272	46808509	31268739	17389	25101											
DYM	54808	broad.mit.edu	37	chr18	46812850	46812850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtctgtaggggtttggCgcatctgaggcatctgtcag	15	8	4	1	rs142473333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46812850C>T	ENST00000269445.6	-	9	1357	c.900G>A	c.(898-900)gcG>gcA	p.A300A	DYM_ENST00000442713.2_Silent_p.A110A	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	300						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AGGGGTTTGGCGCATCTGAGG	0.483													False	0	False	18:46812850	0	T	46812850	C	T	46812850	2	4	88	1	0	0	0	0	0	0	0	1	4870	755	27	1		1	DYM	18	46812850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4341	46812850	31264398	17390	25102											
LIPG	9388	broad.mit.edu	37	chr18	47091750	47091750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtgaggtttaacctccGcacctccaaggacccagagc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47091750G>A	ENST00000261292.4	+	2	439	c.161G>A	c.(160-162)cGc>cAc	p.R54H	LIPG_ENST00000427224.2_Missense_Mutation_p.R54H|LIPG_ENST00000577628.1_Missense_Mutation_p.R90H|LIPG_ENST00000580036.1_Missense_Mutation_p.R54H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	54					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TTTAACCTCCGCACCTCCAAG	0.517													False	0	False	18:47091750	0	A	47091750	G	A	47091750	3	1	88	1	0	0	0	0	1	0	0	0	8876	1087	38	1	167	1	LIPG	18	47091750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278900	47091750	30985498	17391	25103											
LIPG	9388	broad.mit.edu	37	chr18	47101920	47101920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggtgacttccagccaggCtgtggactcaacgatgtctt	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47101920C>T	ENST00000261292.4	+	5	1031	c.753C>T	c.(751-753)ggC>ggT	p.G251G	LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Silent_p.G287G|LIPG_ENST00000580036.1_Silent_p.G251G	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	251					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCCAGCCAGGCTGTGGACTCA	0.483													False	0	False	18:47101920	0	T	47101920	C	T	47101920	2	4	88	1	0	0	0	0	0	0	0	1	8876	784	28	2		2	LIPG	18	47101920	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10170	47101920	30975328	17392	25104											
LIPG	9388	broad.mit.edu	37	chr18	47110052	47110052	+	Missense_Mutation	SNP	G	G	T													tcttggtacaacctgtggaaGgagtttcgcagctacctgtc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47110052G>T	ENST00000261292.4	+	8	1562	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	LIPG_ENST00000427224.2_Missense_Mutation_p.K354N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	428	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACCTGTGGAAGGAGTTTCGCA	0.587													False	0	False	18:47110052	0	T	47110052	G	T	47110052	3	4	88	1	0	0	0	0	1	0	0	0	8876	991	35	3	1314	3	LIPG	18	47110052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8132	47110052	30967196	17393	25105	264	2									
LIPG	9388	broad.mit.edu	37	chr18	47110060	47110060	+	Missense_Mutation	SNP	G	G	A													caacctgtggaaggagtttcGcagctacctgtctcaacccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47110060G>A	ENST00000261292.4	+	8	1570	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	LIPG_ENST00000427224.2_Missense_Mutation_p.R357H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	431	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						AAGGAGTTTCGCAGCTACCTG	0.587													False	0	False	18:47110060	0	A	47110060	G	A	47110060	3	1	88	1	0	0	0	0	1	0	0	0	8876	1087	38	1	1322	1	LIPG	18	47110060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	47110060	30967188	17394	25106	264	2									
MYO5B	4645	broad.mit.edu	37	chr18	47363197	47363197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttccatggtctgaactgCtccactctggtgaaggtttc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47363197C>T	ENST00000285039.7	-	38	5496	c.5197G>A	c.(5197-5199)Gca>Aca	p.A1733T	RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.A56T|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.A848T|MYO5B_ENST00000592688.1_Missense_Mutation_p.A303T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1733	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTCTGAACTGCTCCACTCTGG	0.507													False	0	False	18:47363197	0	T	47363197	C	T	47363197	3	4	88	1	0	0	0	0	1	0	0	0	10146	797	28	2	361	2	MYO5B	18	47363197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253137	47363197	30714051	17395	25107											
MYO5B	4645	broad.mit.edu	37	chr18	47363955	47363955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgttaagagtcactgcGttgatcatgtagaagagctg	13	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47363955G>A	ENST00000285039.7	-	37	5369	c.5070C>T	c.(5068-5070)aaC>aaT	p.N1690N	RP11-886H22.1_ENST00000590532.2_Silent_p.N13N|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.N805N|MYO5B_ENST00000592688.1_Silent_p.N260N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1690	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGTCACTGCGTTGATCATGT	0.512													False	0	False	18:47363955	0	A	47363955	G	A	47363955	2	1	88	1	0	0	0	0	0	0	0	1	10146	1136	40	1		1	MYO5B	18	47363955	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	758	47363955	30713293	17396	25108											
MYO5B	4645	broad.mit.edu	37	chr18	47373547	47373547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccggatgaggagggcctcGtcctctttgtggtactccag	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47373547G>A	ENST00000285039.7	-	33	4727	c.4428C>T	c.(4426-4428)gaC>gaT	p.D1476D	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.D591D|MYO5B_ENST00000592688.1_Silent_p.D46D	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1476					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGAGGGCCTCGTCCTCTTTGT	0.612													False	0	False	18:47373547	0	A	47373547	G	A	47373547	2	1	88	1	0	0	0	0	0	0	0	1	10146	1136	40	1		1	MYO5B	18	47373547	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9592	47373547	30703701	17397	25109											
MYO5B	4645	broad.mit.edu	37	chr18	47390710	47390710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctcagctcattcaggTcattcttcagctttttgttc	5	12	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47390710T>C	ENST00000285039.7	-	28	3943	c.3644A>G	c.(3643-3645)gAc>gGc	p.D1215G	MYO5B_ENST00000324581.6_Missense_Mutation_p.D356G|MYO5B_ENST00000587895.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1215					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTCATTCAGGTCATTCTTCAG	0.572													False	0	False	18:47390710	0	C	47390710	T	C	47390710	3	2	88	1	0	0	0	0	1	0	0	0	10146	1667	58	4	1954	4	MYO5B	18	47390710	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17163	47390710	30686538	17398	25110											
MYO5B	4645	broad.mit.edu	37	chr18	47398552	47398552	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttaccttcagactattgtaGgccagatctgcattcgggtc	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47398552G>T	ENST00000285039.7	-	27	3887	c.3588C>A	c.(3586-3588)gcC>gcA	p.A1196A	MYO5B_ENST00000324581.6_Silent_p.A337A|MYO5B_ENST00000587895.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1196					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GACTATTGTAGGCCAGATCTG	0.507													False	0	False	18:47398552	0	T	47398552	G	T	47398552	2	4	88	1	0	0	0	0	0	0	0	1	10146	987	35	3		3	MYO5B	18	47398552	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7842	47398552	30678696	17399	25111											
MYO5B	4645	broad.mit.edu	37	chr18	47429162	47429162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgtgccatccagccccgCacgtgcttctggatggtggt	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47429162C>T	ENST00000285039.7	-	21	2912	c.2613G>A	c.(2611-2613)gtG>gtA	p.V871V	MYO5B_ENST00000324581.6_Silent_p.V12V	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	871	Arg-rich.|IQ 5.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCAGCCCCGCACGTGCTTCT	0.607													False	0	False	18:47429162	0	T	47429162	C	T	47429162	2	4	88	1	0	0	0	0	0	0	0	1	10146	697	25	2		2	MYO5B	18	47429162	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30610	47429162	30648086	17400	25112											
MYO5B	4645	broad.mit.edu	37	chr18	47500787	47500787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagggccttgttgatgtGctccacaatccagccgaaca	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47500787G>A	ENST00000285039.7	-	10	1554	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	419	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTGTTGATGTGCTCCACAATC	0.582													False	0	False	18:47500787	0	A	47500787	G	A	47500787	3	1	88	1	0	0	0	0	1	0	0	0	10146	1319	46	2	4415	2	MYO5B	18	47500787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71625	47500787	30576461	17401	25113											
CCDC11	220136	broad.mit.edu	37	chr18	47787442	47787442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatttcattacctgaattgCtggtctagcttttcagccac	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47787442C>T	ENST00000398545.4	-	3	582	c.465G>A	c.(463-465)caG>caA	p.Q155Q		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	155										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ACCTGAATTGCTGGTCTAGCT	0.313													False	0	False	18:47787442	0	T	47787442	C	T	47787442	2	4	88	1	0	0	0	0	0	0	0	1	2766	796	28	2		2	CCDC11	18	47787442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286655	47787442	30289806	17402	25114											
MBD1	4152	broad.mit.edu	37	chr18	47806310	47806310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacttgcgaaagacttcgCggcgcttccagccagggccc	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47806310C>T	ENST00000591416.1	-	2	484	c.53G>A	c.(52-54)cGc>cAc	p.R18H	MBD1_ENST00000269468.5_Missense_Mutation_p.R18H|MBD1_ENST00000353909.3_Missense_Mutation_p.R18H|MBD1_ENST00000269471.5_Missense_Mutation_p.R18H|MBD1_ENST00000585595.1_Missense_Mutation_p.R18H|MBD1_ENST00000590208.1_Missense_Mutation_p.R18H|MBD1_ENST00000347968.3_Missense_Mutation_p.R18H|MBD1_ENST00000585672.1_Missense_Mutation_p.R18H|MBD1_ENST00000398488.1_Missense_Mutation_p.R18H|MBD1_ENST00000591535.1_Missense_Mutation_p.R18H|MBD1_ENST00000398495.2_Missense_Mutation_p.R18H|MBD1_ENST00000424334.2_Missense_Mutation_p.R44H|MBD1_ENST00000436910.1_Missense_Mutation_p.R18H|MBD1_ENST00000349085.2_Missense_Mutation_p.R18H|MBD1_ENST00000398493.1_Missense_Mutation_p.R18H|MBD1_ENST00000588937.1_Missense_Mutation_p.R18H|MBD1_ENST00000457839.2_Missense_Mutation_p.R18H|MBD1_ENST00000382948.5_Missense_Mutation_p.R18H|MBD1_ENST00000587605.1_Missense_Mutation_p.R18H|MBD1_ENST00000339998.6_Missense_Mutation_p.R18H			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	18	MBD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AAAGACTTCGCGGCGCTTCCA	0.632													False	0	False	18:47806310	0	T	47806310	C	T	47806310	3	4	88	1	0	0	0	0	1	0	0	0	9409	768	27	1	2018	1	MBD1	18	47806310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18868	47806310	30270938	17403	25115											
CXXC1	30827	broad.mit.edu	37	chr18	47809894	47809894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcacttacccttcaatgCgtgtggggtacatggaccca	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47809894C>T	ENST00000285106.6	-	12	2279	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	CXXC1_ENST00000589940.1_Missense_Mutation_p.R522H|CXXC1_ENST00000412036.2_Missense_Mutation_p.R526H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	522					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCTTCAATGCGTGTGGGGTA	0.592													False	0	False	18:47809894	0	T	47809894	C	T	47809894	3	4	88	1	0	0	0	0	1	0	0	0	4122	768	27	1	421	1	CXXC1	18	47809894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3584	47809894	30267354	17404	25116											
CXXC1	30827	broad.mit.edu	37	chr18	47811382	47811382	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctcaccaggccatggTcatcaaaggcccctgcacag	10	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47811382T>A	ENST00000285106.6	-	7	1616	c.902A>T	c.(901-903)gAc>gTc	p.D301V	CXXC1_ENST00000589940.1_Missense_Mutation_p.D301V|CXXC1_ENST00000412036.2_Missense_Mutation_p.D301V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	301	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CAGGCCATGGTCATCAAAGGC	0.557													False	0	False	18:47811382	0	A	47811382	T	A	47811382	3	1	88	1	0	0	0	0	1	0	0	0	4122	1667	58	5	1116	5	CXXC1	18	47811382	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1488	47811382	30265866	17405	25117											
SKA1	220134	broad.mit.edu	37	chr18	47911724	47911724	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttcaatggtgttccttcGtaagtatttaagataaataa	8	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47911724G>A	ENST00000285116.3	+	5	660		c.e5+1		SKA1_ENST00000488454.1_Intron|SKA1_ENST00000398452.2_Splice_Site|SKA1_ENST00000417656.2_Intron	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1						cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						GTGTTCCTTCGTAAGTATTTA	0.294													False	0	False	18:47911724	0	A	47911724	G	A	47911724	5	1	88	1	0	0	0	0	0	0	1	0	14433	1159	40	1	464	1	SKA1	18	47911724	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100342	47911724	30165524	17406	25118											
MAPK4	5596	broad.mit.edu	37	chr18	48255532	48255532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtacccttgcaggtacCctgtgagcctgtcgtcggac	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48255532C>T	ENST00000400384.2	+	6	2108	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	MAPK4_ENST00000540640.1_Missense_Mutation_p.P147S|MAPK4_ENST00000592595.1_Silent_p.T232T	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	358					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TTGCAGGTACCCTGTGAGCCT	0.652													False	0	True	18:48255532	0	T	48255532	C	T	48255532	3	4	88	1	0	0	0	0	1	0	0	0	9347	623	22	2	1090	2	MAPK4	18	48255532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343808	48255532	29821716	17407	25119											
MAPK4	5596	broad.mit.edu	37	chr18	48255600	48255600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgccagcgaggtacagcgCgacccgcgcgcgggttcggc	17	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48255600C>T	ENST00000400384.2	+	6	2176	c.1140C>T	c.(1138-1140)cgC>cgT	p.R380R	MAPK4_ENST00000540640.1_Silent_p.R169R|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	380					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGGTACAGCGCGACCCGCGCG	0.672													False	0	False	18:48255600	0	T	48255600	C	T	48255600	2	4	88	1	0	0	0	0	0	0	0	1	9347	755	27	1		1	MAPK4	18	48255600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68	48255600	29821648	17408	25120											
ME2	4200	broad.mit.edu	37	chr18	48446897	48446897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcaggttcttgagaaagtAccgagaaaaatattgtactt	8	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48446897A>G	ENST00000321341.5	+	8	1078	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	ME2_ENST00000382927.3_Missense_Mutation_p.Y269C	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	269					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TTGAGAAAGTACCGAGAAAAA	0.333													False	0	False	18:48446897	0	G	48446897	A	G	48446897	3	3	88	1	0	0	0	0	1	0	0	0	9485	391	14	4	832	4	ME2	18	48446897	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	191297	48446897	29630351	17409	25121											
ME2	4200	broad.mit.edu	37	chr18	48447034	48447034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtttttcttacagggaCagctgcagtagctctagcag	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48447034C>T	ENST00000321341.5	+	9	1120	c.848C>T	c.(847-849)aCa>aTa	p.T283I	ME2_ENST00000382927.3_Missense_Mutation_p.T283I	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	283					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	CTTACAGGGACAGCTGCAGTA	0.348													False	0	False	18:48447034	0	T	48447034	C	T	48447034	3	4	88	1	0	0	0	0	1	0	0	0	9485	478	17	2	878	2	ME2	18	48447034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	48447034	29630214	17410	25122											
ME2	4200	broad.mit.edu	37	chr18	48447551	48447552	+	Frame_Shift_Del	DEL	AG	AG	-													tttgacaagtatggtttattAgttaaggtaaggtatttaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48447551_48447552delAG	ENST00000321341.5	+	10	1322_1323	c.1050_1051delAG	c.(1048-1053)ttagttfs	p.LV350fs	ME2_ENST00000382927.3_Frame_Shift_Del_p.LV350fs	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	350					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	ATGGTTTATTAGTTAAGGTAAG	0.287													False	1	False	18:48447551	0	-	48447552	AG	-	48447551	7	5	88	1	0	1	0	1	0	0	0	0	9485	417	15	0	1084	0	ME2	18	48447551	Frame_Shift_Del	DEL	AG	TCGA-IB-7651-01A-11D-2154-08	517	48447551	29629697	17411	25123	265	2									
ME2	4200	broad.mit.edu	37	chr18	48447552	48447553	+	In_Frame_Ins	INS	-	-	TTTCCC													tgacaagtatggtttattagINSttaaggtaaggtatttaaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48447552_48447553insTTTCCC	ENST00000321341.5	+	10	1323_1324	c.1051_1052insTTTCCC	c.(1051-1053)gtt>gTTTCCCtt	p.351_352insSL	ME2_ENST00000382927.3_In_Frame_Ins_p.351_352insSL	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	351					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TGGTTTATTAGTTAAGGTAAGG	0.292													False	0	True	18:48447552	0	TTTCCC	48447553	-	TTTCCC	48447552	7	5	88	1	0	1	1	0	0	0	0	0	9485	1029	36	0	1085	0	ME2	18	48447552	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1	48447552	29629696	17412	25124	265	2									
SMAD4	4089	broad.mit.edu	37	chr18	48604665	48604665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattggtgttgatgaccttcGtcgcttatgcatactcagga	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48604665G>A	ENST00000342988.3	+	12	2025	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	SMAD4_ENST00000398417.2_Missense_Mutation_p.R496H|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.R400H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	496	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R496H(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATGACCTTCGTCGCTTATGC	0.468													False	0	False	18:48604665	0	A	48604665	G	A	48604665	3	1	88	1	0	0	0	0	1	0	0	0	14840	1145	40	1	1529	1	SMAD4	18	48604665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157113	48604665	29472583	17413	25125											
DCC	1630	broad.mit.edu	37	chr18	50278519	50278519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcctcctcgactgctccGcggagtccgaccgaggagtt	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:50278519G>A	ENST00000442544.2	+	2	803	c.187G>A	c.(187-189)Gcg>Acg	p.A63T		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	63	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGACTGCTCCGCGGAGTCCGA	0.507													False	0	False	18:50278519	0	A	50278519	G	A	50278519	3	1	88	1	0	0	0	0	1	0	0	0	4307	1087	38	1	193	1	DCC	18	50278519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1673854	50278519	27798729	17414	25126											
DCC	1630	broad.mit.edu	37	chr18	50592518	50592518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcccagaccagtgcacagCtcattgtccctaagcctggt	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:50592518C>A	ENST00000442544.2	+	7	1859	c.1243C>A	c.(1243-1245)Ctc>Atc	p.L415I	DCC_ENST00000412726.1_Missense_Mutation_p.L263I|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.L70I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	415	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGTGCACAGCTCATTGTCCC	0.428													False	0	False	18:50592518	0	A	50592518	C	A	50592518	3	1	88	1	0	0	0	0	1	0	0	0	4307	797	28	3	1269	3	DCC	18	50592518	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	313999	50592518	27484730	17415	25127											
MBD2	8932	broad.mit.edu	37	chr18	51686244	51686244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttcttccaatttcttgCgtacttgctgtactcgctct	7	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51686244C>T	ENST00000256429.3	-	6	1367	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	380					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CAATTTCTTGCGTACTTGCTG	0.403													False	0	False	18:51686244	0	T	51686244	C	T	51686244	3	4	88	1	0	0	0	0	1	0	0	0	9410	768	27	1	100	1	MBD2	18	51686244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1093726	51686244	26391004	17416	25128											
MBD2	8932	broad.mit.edu	37	chr18	51686260	51686260	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcgtacttgctgtactcGctcttcctgtttccttttta	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51686260G>A	ENST00000256429.3	-	6	1351	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	375					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TGCTGTACTCGCTCTTCCTGT	0.398													False	0	False	18:51686260	0	A	51686260	G	A	51686260	4	1	88	1	0	0	0	0	0	1	0	0	9410	1095	38	1	116	1	MBD2	18	51686260	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16	51686260	26390988	17417	25129											
MBD2	8932	broad.mit.edu	37	chr18	51715256	51715256	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccttacctgacgtggctgTtcattcattcgttgtgggtc	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51715256T>G	ENST00000256429.3	-	3	1056	c.828A>C	c.(826-828)gaA>gaC	p.E276D		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	276					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	GACGTGGCTGTTCATTCATTC	0.333													False	0	True	18:51715256	0	G	51715256	T	G	51715256	3	3	88	1	0	0	0	0	1	0	0	0	9410	1722	60	4	423	4	MBD2	18	51715256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28996	51715256	26361992	17418	25130											
MBD2	8932	broad.mit.edu	37	chr18	51750412	51750412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagtagacatcgctcttgCcagcacttagcccagatttt	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51750412C>T	ENST00000256429.3	-	1	746	c.518G>A	c.(517-519)gGc>gAc	p.G173D	MBD2_ENST00000398398.2_Missense_Mutation_p.G173D|MBD2_ENST00000583046.1_Missense_Mutation_p.G173D	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	173	MBD.				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	ATCGCTCTTGCCAGCACTTAG	0.667													False	0	False	18:51750412	0	T	51750412	C	T	51750412	3	4	88	1	0	0	0	0	1	0	0	0	9410	739	26	2	952	2	MBD2	18	51750412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35156	51750412	26326836	17419	25131											
POLI	11201	broad.mit.edu	37	chr18	51807102	51807102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagattgcagcagagatgCgggaagccatgtataatcag	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51807102C>T	ENST00000579534.1	+	5	768	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	POLI_ENST00000217800.5_Missense_Mutation_p.R83W|POLI_ENST00000579434.1_Missense_Mutation_p.R106W|POLI_ENST00000406285.3_Intron	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	209	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	p.R184W(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGCAGAGATGCGGGAAGCCAT	0.413								DNA polymerases (catalytic subunits)					False	0	True	18:51807102	0	T	51807102	C	T	51807102	3	4	88	1	0	0	0	0	1	0	0	0	12272	759	27	1	643	1	POLI	18	51807102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56690	51807102	26270146	17420	25132											
STARD6	147323	broad.mit.edu	37	chr18	51851195	51851195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttattgatggggacaattttCctctcatttctgtctggaca	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51851195C>T	ENST00000581310.1	-	9	903	c.530G>A	c.(529-531)gGa>gAa	p.G177E	STARD6_ENST00000307844.3_Missense_Mutation_p.G177E|STARD6_ENST00000580990.2_Missense_Mutation_p.G53E			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	177	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GGACAATTTTCCTCTCATTTC	0.338													False	0	True	18:51851195	0	T	51851195	C	T	51851195	3	4	88	1	0	0	0	0	1	0	0	0	15343	855	30	2	135	2	STARD6	18	51851195	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44093	51851195	26226053	17421	25133											
STARD6	147323	broad.mit.edu	37	chr18	51851233	51851233	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaacatcactagtttggaAtatgctgggtttctgtaagc	9	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51851233A>G	ENST00000581310.1	-	9	865	c.492T>C	c.(490-492)taT>taC	p.Y164Y	STARD6_ENST00000307844.3_Silent_p.Y164Y|STARD6_ENST00000580990.2_Silent_p.Y40Y			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	164	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		CTAGTTTGGAATATGCTGGGT	0.333													False	0	False	18:51851233	0	G	51851233	A	G	51851233	2	3	88	1	0	0	0	0	0	0	0	1	15343	108	4	4		4	STARD6	18	51851233	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38	51851233	26226015	17422	25134											
C18orf54	162681	broad.mit.edu	37	chr18	51889266	51889266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaacttgaagcagacagaTcatgggaaaatattcctgtt	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51889266T>C	ENST00000300091.5	+	4	1047	c.715T>C	c.(715-717)Tca>Cca	p.S239P	C18orf54_ENST00000382911.4_Missense_Mutation_p.S400P|C18orf54_ENST00000578138.1_Missense_Mutation_p.S18P	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	239						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AGCAGACAGATCATGGGAAAA	0.343													False	0	True	18:51889266	0	C	51889266	T	C	51889266	3	2	88	1	0	0	0	0	1	0	0	0	1918	1435	50	4	725	4	C18orf54	18	51889266	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38033	51889266	26187982	17423	25135											
C18orf54	162681	broad.mit.edu	37	chr18	51898889	51898889	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgttgaagccctgaaacaAatgttatttaaccttcaagc	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51898889A>G	ENST00000300091.5	+	6	1229	c.897A>G	c.(895-897)caA>caG	p.Q299Q	C18orf54_ENST00000382911.4_Silent_p.Q460Q|C18orf54_ENST00000578138.1_Silent_p.Q78Q|C18orf54_ENST00000582188.1_3'UTR	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	299						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		CCCTGAAACAAATGTTATTTA	0.358													False	0	True	18:51898889	0	G	51898889	A	G	51898889	2	3	88	1	0	0	0	0	0	0	0	1	1918	11	1	4		4	C18orf54	18	51898889	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9623	51898889	26178359	17424	25136											
TCF4	6925	broad.mit.edu	37	chr18	52901874	52901874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtttggcagaagagaatggCtgcctctcagggccacgcca	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:52901874C>A	ENST00000354452.3	-	16	2002	c.1391G>T	c.(1390-1392)aGc>aTc	p.S464I	TCF4_ENST00000356073.4_Missense_Mutation_p.S464I|TCF4_ENST00000564999.1_Missense_Mutation_p.S464I|TCF4_ENST00000568740.1_Missense_Mutation_p.S439I|TCF4_ENST00000565018.2_Missense_Mutation_p.S464I|TCF4_ENST00000570177.2_Missense_Mutation_p.S334I|TCF4_ENST00000566279.1_Missense_Mutation_p.S404I|TCF4_ENST00000567880.1_Missense_Mutation_p.S404I|TCF4_ENST00000570287.2_Missense_Mutation_p.S304I|TCF4_ENST00000566286.1_Missense_Mutation_p.S461I|TCF4_ENST00000543082.1_Missense_Mutation_p.S422I|TCF4_ENST00000457482.3_Missense_Mutation_p.S304I|TCF4_ENST00000561992.1_Missense_Mutation_p.S334I|TCF4_ENST00000564403.2_Missense_Mutation_p.S470I|TCF4_ENST00000537578.1_Missense_Mutation_p.S440I|TCF4_ENST00000568673.1_Missense_Mutation_p.S440I|TCF4_ENST00000544241.2_Missense_Mutation_p.S393I|TCF4_ENST00000561831.3_Missense_Mutation_p.S304I|TCF4_ENST00000540999.1_Missense_Mutation_p.S440I|TCF4_ENST00000398339.1_Missense_Mutation_p.S566I|TCF4_ENST00000564228.1_Missense_Mutation_p.S393I|TCF4_ENST00000537856.3_Missense_Mutation_p.S334I	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	464					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AAGAGAATGGCTGCCTCTCAG	0.597											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	18:52901874	0	A	52901874	C	A	52901874	3	1	88	1	0	0	0	0	1	0	0	0	15777	797	28	3	640	3	TCF4	18	52901874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1002985	52901874	25175374	17425	25137											
TCF4	6925	broad.mit.edu	37	chr18	53018198	53018198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggcgaaagggttcctgGgttgcccatatccatgtcac	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53018198G>T	ENST00000354452.3	-	7	1017	c.406C>A	c.(406-408)Cca>Aca	p.P136T	TCF4_ENST00000356073.4_Missense_Mutation_p.P136T|TCF4_ENST00000564999.1_Missense_Mutation_p.P136T|TCF4_ENST00000568740.1_Missense_Mutation_p.P111T|TCF4_ENST00000565018.2_Missense_Mutation_p.P136T|TCF4_ENST00000570177.2_Missense_Mutation_p.P6T|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000566286.1_Missense_Mutation_p.P134T|TCF4_ENST00000543082.1_Missense_Mutation_p.P94T|TCF4_ENST00000561992.1_Missense_Mutation_p.P6T|TCF4_ENST00000564403.2_Missense_Mutation_p.P136T|TCF4_ENST00000537578.1_Missense_Mutation_p.P112T|TCF4_ENST00000568673.1_Missense_Mutation_p.P112T|TCF4_ENST00000544241.2_Missense_Mutation_p.P65T|TCF4_ENST00000540999.1_Missense_Mutation_p.P112T|TCF4_ENST00000398339.1_Missense_Mutation_p.P238T|TCF4_ENST00000564228.1_Missense_Mutation_p.P65T|TCF4_ENST00000537856.3_Missense_Mutation_p.P6T	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	136					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGGTTCCTGGGTTGCCCATA	0.453													False	0	True	18:53018198	0	T	53018198	G	T	53018198	3	4	88	1	0	0	0	0	1	0	0	0	15777	1232	43	3	1661	3	TCF4	18	53018198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116324	53018198	25059050	17426	25138											
TCF4	6925	broad.mit.edu	37	chr18	53254332	53254332	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccctaaggcagccattcGctgttggtgatgcattttag	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53254332G>A	ENST00000354452.3	-	2	627	c.16C>T	c.(16-18)Cga>Tga	p.R6*	TCF4_ENST00000356073.4_Nonsense_Mutation_p.R6*|TCF4_ENST00000564999.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000565018.2_Nonsense_Mutation_p.R6*|TCF4_ENST00000566279.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000567880.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000564403.2_Nonsense_Mutation_p.R6*|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000398339.1_Nonsense_Mutation_p.R108*	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	6	Essential for MYOD1 inhibition (By similarity).				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GCAGCCATTCGCTGTTGGTGA	0.423													False	0	False	18:53254332	0	A	53254332	G	A	53254332	4	1	88	1	0	0	0	0	0	1	0	0	15777	1095	38	1	2071	1	TCF4	18	53254332	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236134	53254332	24822916	17427	25139											
TCF4	6925	broad.mit.edu	37	chr18	53303063	53303063	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atctttgagtaatttgtcaaAatgatgaagatgaagggaaa	10	2	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53303063A>C	ENST00000398339.1	-	1	122	c.66T>G	c.(64-66)atT>atG	p.I22M		NM_001243226.1	NP_001230155.1	P15884	ITF2_HUMAN	transcription factor 4	0	Essential for MYOD1 inhibition (By similarity).				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AATTTGTCAAAATGATGAAGA	0.418													False	0	True	18:53303063	0	C	53303063	A	C	53303063	3	2	88	1	0	0	0	0	1	0	0	0	15777	29	1	4		4	TCF4	18	53303063	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	48731	53303063	24774185	17428	25140											
TXNL1	9352	broad.mit.edu	37	chr18	54281785	54281785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcttcaaaatccatagatCggggtaggttgataaaaatt	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54281785C>T	ENST00000217515.6	-	6	809	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	TXNL1_ENST00000540155.1_Missense_Mutation_p.R79Q|TXNL1_ENST00000590954.1_Missense_Mutation_p.R202Q	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	202	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		ATCCATAGATCGGGGTAGGTT	0.348													False	0	True	18:54281785	0	T	54281785	C	T	54281785	3	4	88	1	0	0	0	0	1	0	0	0	16888	884	31	1	276	1	TXNL1	18	54281785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	978722	54281785	23795463	17429	25141											
WDR7	23335	broad.mit.edu	37	chr18	54385226	54385226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactgcatctgctctgtagCcagtgaccactcagtaggac	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54385226C>T	ENST00000254442.3	+	13	1821	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	WDR7_ENST00000357574.3_Missense_Mutation_p.A537V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	537										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCTCTGTAGCCAGTGACCAC	0.363													False	0	False	18:54385226	0	T	54385226	C	T	54385226	3	4	88	1	0	0	0	0	1	0	0	0	17404	739	26	2	1656	2	WDR7	18	54385226	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103441	54385226	23692022	17430	25142											
WDR7	23335	broad.mit.edu	37	chr18	54423953	54423953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgaagaagcctctaggcCgaatactgctcttatttccc	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54423953C>T	ENST00000254442.3	+	15	2340	c.2129C>T	c.(2128-2130)cCg>cTg	p.P710L	WDR7_ENST00000357574.3_Missense_Mutation_p.P710L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	710										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCCTCTAGGCCGAATACTGCT	0.433													False	0	False	18:54423953	0	T	54423953	C	T	54423953	3	4	88	1	0	0	0	0	1	0	0	0	17404	652	23	1	2183	1	WDR7	18	54423953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38727	54423953	23653295	17431	25143											
WDR7	23335	broad.mit.edu	37	chr18	54547231	54547231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacatcttacgaggaaagaCggaagcaagctaccgctatt	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54547231C>T	ENST00000254442.3	+	21	3572	c.3361C>T	c.(3361-3363)Cgg>Tgg	p.R1121W	WDR7_ENST00000357574.3_Missense_Mutation_p.R1088W|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1121										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGAGGAAAGACGGAAGCAAGC	0.378													False	0	False	18:54547231	0	T	54547231	C	T	54547231	3	4	88	1	0	0	0	0	1	0	0	0	17404	527	19	1	3439	1	WDR7	18	54547231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123278	54547231	23530017	17432	25144											
ONECUT2	9480	broad.mit.edu	37	chr18	55103370	55103370	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgactcgtctccgcctgGcatgggcatgagcaacacct	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55103370G>T	ENST00000491143.2	+	1	454	c.422G>T	c.(421-423)gGc>gTc	p.G141V		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	141					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCTCCGCCTGGCATGGGCATG	0.657													False	0	True	18:55103370	0	T	55103370	G	T	55103370	3	4	88	1	0	0	0	0	1	0	0	0	10937	1203	42	3	424	3	ONECUT2	18	55103370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	556139	55103370	22973878	17433	25145											
ATP8B1	5205	broad.mit.edu	37	chr18	55315895	55315895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcggaacacctgctgcCgtcgctgccactgctcctcc	10	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55315895C>T	ENST00000536015.1	-	28	3700	c.3581G>A	c.(3580-3582)cGg>cAg	p.R1194Q	RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.R1194Q|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1194					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CACCTGCTGCCGTCGCTGCCA	0.652													False	0	False	18:55315895	0	T	55315895	C	T	55315895	3	4	88	1	0	0	0	0	1	0	0	0	1198	652	23	1	178	1	ATP8B1	18	55315895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212525	55315895	22761353	17434	25146											
ATP8B1	5205	broad.mit.edu	37	chr18	55362414	55362414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgtacctgcaaaaatgActaagccgtggcagaaatcg	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55362414A>G	ENST00000536015.1	-	10	1048	c.929T>C	c.(928-930)gTc>gCc	p.V310A	ATP8B1_ENST00000283684.4_Missense_Mutation_p.V310A|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	310					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGCAAAAATGACTAAGCCGTG	0.388													False	0	False	18:55362414	0	G	55362414	A	G	55362414	3	3	88	1	0	0	0	0	1	0	0	0	1198	275	10	4	2902	4	ATP8B1	18	55362414	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46519	55362414	22714834	17435	25147											
ATP8B1	5205	broad.mit.edu	37	chr18	55365052	55365052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaatcattttttttcagaCgaatgacgtctccaacttga	5	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55365052C>T	ENST00000536015.1	-	7	721	c.602G>A	c.(601-603)cGt>cAt	p.R201H	ATP8B1_ENST00000589147.1_5'UTR|ATP8B1_ENST00000283684.4_Missense_Mutation_p.R201H|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	201					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TTTTTTCAGACGAATGACGTC	0.398													False	0	False	18:55365052	0	T	55365052	C	T	55365052	3	4	88	1	0	0	0	0	1	0	0	0	1198	536	19	1	3241	1	ATP8B1	18	55365052	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2638	55365052	22712196	17436	25148											
NEDD4L	0	broad.mit.edu	37	chr18	55998025	55998025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagactctctcggtctggCtctgcccccaccaccggcct	10	18	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55998025C>T	ENST00000456986.1	+	11	1106	c.506C>T	c.(505-507)gCt>gTt	p.A169V	NEDD4L_ENST00000400345.3_Missense_Mutation_p.A290V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.A290V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.A282V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.A282V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.A290V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000435432.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.A290V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.A169V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.A169V	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	290					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CTCGGTCTGGCTCTGCCCCCA	0.552													False	0	False	18:55998025	0	T	55998025	C	T	55998025	3	4	88	1	0	0	0	0	1	0	0	0	10379	797	28	2	939	2	NEDD4L	18	55998025	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	632973	55998025	22079223	17437	25149											
ALPK2	115701	broad.mit.edu	37	chr18	56184276	56184276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgtgcatcactgtgctgCggaaggctttgcggtgaacc	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56184276C>T	ENST00000361673.3	-	9	6017	c.5804G>A	c.(5803-5805)cGc>cAc	p.R1935H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1935	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CACTGTGCTGCGGAAGGCTTT	0.557													False	0	False	18:56184276	0	T	56184276	C	T	56184276	3	4	88	1	0	0	0	0	1	0	0	0	545	768	27	1	728	1	ALPK2	18	56184276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186251	56184276	21892972	17438	25150											
ALPK2	115701	broad.mit.edu	37	chr18	56246527	56246527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacaagagcttcatctctGtctctcttactgattcatcc	5	13	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56246527G>A	ENST00000361673.3	-	4	1694	c.1481C>T	c.(1480-1482)aCa>aTa	p.T494I		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	494							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTCATCTCTGTCTCTCTTAC	0.488											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	18:56246527	0	A	56246527	G	A	56246527	3	1	88	1	0	0	0	0	1	0	0	0	545	1377	48	2	5071	2	ALPK2	18	56246527	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62251	56246527	21830721	17439	25151											
MALT1	10892	broad.mit.edu	37	chr18	56348560	56348560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagttcttcagcttctcaGccccccaggtaggttttgtt	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56348560G>A	ENST00000348428.3	+	2	626	c.368G>A	c.(367-369)aGc>aAc	p.S123N	MALT1_ENST00000345724.3_Missense_Mutation_p.S123N|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	123	Death.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CAGCTTCTCAGCCCCCCAGGT	0.428			T	BIRC3	MALT								False	0	True	18:56348560	0	A	56348560	G	A	56348560	3	1	88	1	0	0	0	0	1	0	0	0	9269	971	34	2	374	2	MALT1	18	56348560	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102033	56348560	21728688	17440	25152											
ZNF532	55205	broad.mit.edu	37	chr18	56585789	56585789	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccactggcaatggcttacaTaatgggtttctcacagcatc	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56585789T>C	ENST00000336078.4	+	4	1046	c.270T>C	c.(268-270)caT>caC	p.H90H	ZNF532_ENST00000591230.1_Silent_p.H90H|ZNF532_ENST00000591808.1_Silent_p.H90H|ZNF532_ENST00000591083.1_Silent_p.H90H|ZNF532_ENST00000589288.1_Silent_p.H90H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ATGGCTTACATAATGGGTTTC	0.502													False	0	False	18:56585789	0	C	56585789	T	C	56585789	2	2	88	1	0	0	0	0	0	0	0	1	18055	1403	49	4		4	ZNF532	18	56585789	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	237229	56585789	21491459	17441	25153											
ZNF532	55205	broad.mit.edu	37	chr18	56586899	56586899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgtctgctgtgaagacGgcaggatcccaagtcattaa	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56586899G>A	ENST00000336078.4	+	4	2156	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	ZNF532_ENST00000591230.1_Silent_p.T460T|ZNF532_ENST00000591808.1_Silent_p.T460T|ZNF532_ENST00000591083.1_Silent_p.T460T|ZNF532_ENST00000589288.1_Silent_p.T460T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTGTGAAGACGGCAGGATCCC	0.547													False	0	False	18:56586899	0	A	56586899	G	A	56586899	2	1	88	1	0	0	0	0	0	0	0	1	18055	1103	39	1		1	ZNF532	18	56586899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1110	56586899	21490349	17442	25154											
ZNF532	55205	broad.mit.edu	37	chr18	56615358	56615358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaaaccttgctgtatcGccactttgaccaacacattg	6	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56615358G>A	ENST00000336078.4	+	7	3541	c.2765G>A	c.(2764-2766)cGc>cAc	p.R922H	ZNF532_ENST00000591230.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591808.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591083.1_Missense_Mutation_p.R922H|ZNF532_ENST00000589288.1_Missense_Mutation_p.R922H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	922					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TTGCTGTATCGCCACTTTGAC	0.418													False	0	False	18:56615358	0	A	56615358	G	A	56615358	3	1	88	1	0	0	0	0	1	0	0	0	18055	1087	38	1	2779	1	ZNF532	18	56615358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28459	56615358	21461890	17443	25155											
ZNF532	55205	broad.mit.edu	37	chr18	56651207	56651207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctttccctgaaaggtcCccagtcccaagcggaagttg	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56651207C>T	ENST00000336078.4	+	11	4191	c.3415C>T	c.(3415-3417)Ccc>Tcc	p.P1139S	ZNF532_ENST00000591230.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591808.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591083.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000589288.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000588956.1_3'UTR	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTGAAAGGTCCCCAGTCCCAA	0.453													False	0	True	18:56651207	0	T	56651207	C	T	56651207	3	4	88	1	0	0	0	0	1	0	0	0	18055	623	22	2	3445	2	ZNF532	18	56651207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35849	56651207	21426041	17444	25156											
CPLX4	339302	broad.mit.edu	37	chr18	56964052	56964052	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatctgcccaagaatagaatCtttatcttcttcctcttctt	3	11	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56964052C>T	ENST00000299721.3	-	3	547	c.361G>A	c.(361-363)Gat>Aat	p.D121N	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	121					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	p.D121Y(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				AGAATAGAATCTTTATCTTCT	0.418													False	0	True	18:56964052	0	T	56964052	C	T	56964052	3	4	88	1	0	0	0	0	1	0	0	0	3830	913	32	2	125	2	CPLX4	18	56964052	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	312845	56964052	21113196	17445	25157											
CCBE1	147372	broad.mit.edu	37	chr18	57115222	57115222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccacactcaccgggaggGccctggcccccaggcaggcc	12	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57115222G>A	ENST00000398179.2	-	5	557	c.95C>T	c.(94-96)gCc>gTc	p.A32V	CCBE1_ENST00000439986.4_Silent_p.G256G			Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	303					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CACCGGGAGGGCCCTGGCCCC	0.582													False	0	True	18:57115222	0	A	57115222	G	A	57115222	3	1	88	1	0	0	0	0	1	0	0	0	2751	1190	42	2	472	2	CCBE1	18	57115222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151170	57115222	20962026	17446	25158											
CCBE1	147372	broad.mit.edu	37	chr18	57115301	57115301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaccagtgatatacttgCccaggtcagctgcattgttg	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57115301C>T	ENST00000439986.4	-	7	726	c.689G>A	c.(688-690)gGc>gAc	p.G230D	CCBE1_ENST00000398179.2_Missense_Mutation_p.A6T	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	230					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GATATACTTGCCCAGGTCAGC	0.577													False	0	True	18:57115301	0	T	57115301	C	T	57115301	3	4	88	1	0	0	0	0	1	0	0	0	2751	739	26	2	551	2	CCBE1	18	57115301	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	57115301	20961947	17447	25159											
MC4R	4160	broad.mit.edu	37	chr18	58038647	58038647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagatgatctctttgaaGgttttcctcagttcttgact	7	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:58038647G>A	ENST00000299766.3	-	1	1354	c.936C>T	c.(934-936)acC>acT	p.T312T		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	312					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TCTCTTTGAAGGTTTTCCTCA	0.418													False	0	False	18:58038647	0	A	58038647	G	A	58038647	2	1	88	1	0	0	0	0	0	0	0	1	9433	987	35	2		2	MC4R	18	58038647	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	923346	58038647	20038601	17448	25160											
CDH20	28316	broad.mit.edu	37	chr18	59217362	59217362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcagctgtgatgacgaCggccacgtcatgtcctgcag	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59217362C>T	ENST00000262717.4	+	11	2198	c.1800C>T	c.(1798-1800)gaC>gaT	p.D600D	CDH20_ENST00000536675.2_Silent_p.D600D|CDH20_ENST00000538374.1_Silent_p.D600D			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	600	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTGATGACGACGGCCACGTCA	0.587													False	0	False	18:59217362	0	T	59217362	C	T	59217362	2	4	88	1	0	0	0	0	0	0	0	1	3129	535	19	1		1	CDH20	18	59217362	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1178715	59217362	18859886	17449	25161											
CDH20	28316	broad.mit.edu	37	chr18	59221564	59221564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgaggccttcgacatcgCggccatgtggaacccccggg	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59221564C>T	ENST00000262717.4	+	12	2440	c.2042C>T	c.(2041-2043)gCg>gTg	p.A681V	CDH20_ENST00000536675.2_Missense_Mutation_p.A681V|CDH20_ENST00000538374.1_Missense_Mutation_p.A681V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	681					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTCGACATCGCGGCCATGTGG	0.667													False	0	False	18:59221564	0	T	59221564	C	T	59221564	3	4	88	1	0	0	0	0	1	0	0	0	3129	768	27	1	2084	1	CDH20	18	59221564	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4202	59221564	18855684	17450	25162											
RNF152	220441	broad.mit.edu	37	chr18	59483459	59483459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggaagtgtgtggaatggCgatgacagccaggacctccg	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59483459C>T	ENST00000312828.3	-	2	1337	c.238G>A	c.(238-240)Gcc>Acc	p.A80T		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	80					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				TGTGGAATGGCGATGACAGCC	0.637													False	0	False	18:59483459	0	T	59483459	C	T	59483459	3	4	88	1	0	0	0	0	1	0	0	0	13532	768	27	1	377	1	RNF152	18	59483459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261895	59483459	18593789	17451	25163											
KIAA1468	57614	broad.mit.edu	37	chr18	59899598	59899598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacagtgaaaaaagcgttAtgttaatgctgggacgctgc	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59899598A>G	ENST00000256858.6	+	10	1806	c.1558A>G	c.(1558-1560)Atg>Gtg	p.M520V	KIAA1468_ENST00000592479.1_3'UTR|KIAA1468_ENST00000398130.2_Missense_Mutation_p.M520V			Q9P260	K1468_HUMAN	KIAA1468	520							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AAAAAGCGTTATGTTAATGCT	0.393													False	0	False	18:59899598	0	G	59899598	A	G	59899598	3	3	88	1	0	0	0	0	1	0	0	0	8286	449	16	4	1596	4	KIAA1468	18	59899598	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	416139	59899598	18177650	17452	25164											
KIAA1468	57614	broad.mit.edu	37	chr18	59966089	59966089	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaagaccgtccaagagcctCaagggtaagacattaattct	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59966089C>T	ENST00000256858.6	+	29	3876	c.3628C>T	c.(3628-3630)Caa>Taa	p.Q1210*	KIAA1468_ENST00000398130.2_Nonsense_Mutation_p.Q1176*			Q9P260	K1468_HUMAN	KIAA1468	1176							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCAAGAGCCTCAAGGGTAAGA	0.294													False	0	False	18:59966089	0	T	59966089	C	T	59966089	4	4	88	1	0	0	0	0	0	1	0	0	8286	827	29	2	3636	2	KIAA1468	18	59966089	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66491	59966089	18111159	17453	25165											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60025520	60025520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgcaaaccttgccttgCaggctacttctctgatgcct	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60025520C>T	ENST00000586569.1	+	5	505	c.467C>T	c.(466-468)gCa>gTa	p.A156V	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.A156V	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	156					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTTGCCTTGCAGGCTACTTC	0.423													False	0	True	18:60025520	0	T	60025520	C	T	60025520	3	4	88	1	0	0	0	0	1	0	0	0	16366	710	25	2	485	2	TNFRSF11A	18	60025520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59431	60025520	18051728	17454	25166											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60029018	60029018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctataggaaaaaagggaaagCactcacaggtattgtgtcta	10	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60029018C>T	ENST00000586569.1	+	7	760	c.722C>T	c.(721-723)gCa>gTa	p.A241V	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	241					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AAAGGGAAAGCACTCACAGGT	0.418													False	0	False	18:60029018	0	T	60029018	C	T	60029018	3	4	88	1	0	0	0	0	1	0	0	0	16366	710	25	2	748	2	TNFRSF11A	18	60029018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3498	60029018	18048230	17455	25167											
PHLPP1	23239	broad.mit.edu	37	chr18	60563230	60563230	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaatgcctcacattaaAcatgtggatctaaggtaacc	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60563230A>C	ENST00000400316.4	+	6	2675	c.894A>C	c.(892-894)aaA>aaC	p.K298N	PHLPP1_ENST00000262719.5_Missense_Mutation_p.K810N	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	810					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CTCACATTAAACATGTGGATC	0.398													False	0	True	18:60563230	0	C	60563230	A	C	60563230	3	2	88	1	0	0	0	0	1	0	0	0	11923	40	2	4	2452	4	PHLPP1	18	60563230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	534212	60563230	17514018	17456	25168											
PHLPP1	23239	broad.mit.edu	37	chr18	60642662	60642662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggcagaagcttggtgGtgccgctgtcctttgtcata	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60642662G>A	ENST00000400316.4	+	16	4033	c.2252G>A	c.(2251-2253)gGt>gAt	p.G751D	PHLPP1_ENST00000262719.5_Missense_Mutation_p.G1263D	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1263					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						AAGCTTGGTGGTGCCGCTGTC	0.517													False	0	False	18:60642662	0	A	60642662	G	A	60642662	3	1	88	1	0	0	0	0	1	0	0	0	11923	1261	44	2	3850	2	PHLPP1	18	60642662	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79432	60642662	17434586	17457	25169											
PHLPP1	23239	broad.mit.edu	37	chr18	60645587	60645587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgcccccacgtgcagtcCgtgctcctgactccccagga	9	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60645587C>T	ENST00000400316.4	+	17	4322	c.2541C>T	c.(2539-2541)tcC>tcT	p.S847S	PHLPP1_ENST00000262719.5_Silent_p.S1359S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1359					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ACGTGCAGTCCGTGCTCCTGA	0.622													False	0	False	18:60645587	0	T	60645587	C	T	60645587	2	4	88	1	0	0	0	0	0	0	0	1	11923	639	23	1		1	PHLPP1	18	60645587	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2925	60645587	17431661	17458	25170											
PHLPP1	23239	broad.mit.edu	37	chr18	60646154	60646154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaacggccttgacagtgaCgatgaggagcccatcgaggg	15	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60646154C>T	ENST00000400316.4	+	17	4889	c.3108C>T	c.(3106-3108)gaC>gaT	p.D1036D	PHLPP1_ENST00000262719.5_Silent_p.D1548D	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1548					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TTGACAGTGACGATGAGGAGC	0.622													False	0	False	18:60646154	0	T	60646154	C	T	60646154	2	4	88	1	0	0	0	0	0	0	0	1	11923	535	19	1		1	PHLPP1	18	60646154	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	567	60646154	17431094	17459	25171											
KDSR	2531	broad.mit.edu	37	chr18	61018225	61018225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgggaggacacaaacaCgatcctgcccacccggcgct	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61018225C>T	ENST00000406396.3	-	6	896	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	169					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						GACACAAACACGATCCTGCCC	0.547													False	0	False	18:61018225	0	T	61018225	C	T	61018225	3	4	88	1	0	0	0	0	1	0	0	0	8190	536	19	1	513	1	KDSR	18	61018225	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372071	61018225	17059023	17460	25172											
VPS4B	9525	broad.mit.edu	37	chr18	61058275	61058275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcatgttcattgactgtaGgttttgtgttagatagtgac	11	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61058275G>T	ENST00000238497.5	-	11	1471	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	423					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						ATTGACTGTAGGTTTTGTGTT	0.353													False	0	False	18:61058275	0	T	61058275	G	T	61058275	3	4	88	1	0	0	0	0	1	0	0	0	17297	1000	35	3	70	3	VPS4B	18	61058275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40050	61058275	17018973	17461	25173											
SERPINB5	5268	broad.mit.edu	37	chr18	61154290	61154290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactaatcaagcggctctacGtagacaaatctctgaatctt	6	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61154290G>A	ENST00000382771.4	+	3	572	c.280G>A	c.(280-282)Gta>Ata	p.V94I	SERPINB5_ENST00000489441.1_Missense_Mutation_p.V94I	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	94					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GCGGCTCTACGTAGACAAATC	0.353													False	0	False	18:61154290	0	A	61154290	G	A	61154290	3	1	88	1	0	0	0	0	1	0	0	0	14185	1145	40	1	286	1	SERPINB5	18	61154290	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96015	61154290	16922958	17462	25174											
SERPINB12	89777	broad.mit.edu	37	chr18	61231236	61231236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcaaggaactcttcagcaaGgacgctattaatgctgagac	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61231236G>T	ENST00000382768.1	+	5	588	c.588G>T	c.(586-588)aaG>aaT	p.K196N	SERPINB12_ENST00000269491.1_Missense_Mutation_p.K176N			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	176					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCTTCAGCAAGGACGCTATTA	0.368													False	0	False	18:61231236	0	T	61231236	G	T	61231236	3	4	88	1	0	0	0	0	1	0	0	0	14180	991	35	3	546	3	SERPINB12	18	61231236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76946	61231236	16846012	17463	25175											
SERPINB13	5275	broad.mit.edu	37	chr18	61261692	61261692	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caatgggacagggagtttaaGaaagaaaatactaaggaaga	12	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61261692G>T	ENST00000344731.5	+	6	678	c.576G>T	c.(574-576)aaG>aaT	p.K192N	SERPINB13_ENST00000269489.5_Missense_Mutation_p.K192N	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	192					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GGGAGTTTAAGAAAGAAAATA	0.378													False	0	True	18:61261692	0	T	61261692	G	T	61261692	3	4	88	1	0	0	0	0	1	0	0	0	14181	933	33	3	594	3	SERPINB13	18	61261692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30456	61261692	16815556	17464	25176											
SERPINB4	6318	broad.mit.edu	37	chr18	61305075	61305075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagatgataattcgactaCtactacagcggtggcagctg	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61305075C>T	ENST00000341074.5	-	8	1166	c.1051G>A	c.(1051-1053)Gta>Ata	p.V351I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.V299I	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AATTCGACTACTACTACAGCG	0.463													False	0	True	18:61305075	0	T	61305075	C	T	61305075	3	4	88	1	0	0	0	0	1	0	0	0	14184	565	20	2	125	2	SERPINB4	18	61305075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43383	61305075	16772173	17465	25177											
SERPINB11	89778	broad.mit.edu	37	chr18	61377552	61377552	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttatgctctaagcatggTcctccttggtgccaggggag	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61377552T>C	ENST00000544088.1	+	0	187				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTAAGCATGGTCCTCCTTGGT	0.448													False	0	False	18:61377552	0	C	61377552	T	C	61377552	1	2	88	0	1	0	0	0	0	0	0	0	14179	1667	58	4		4	SERPINB11	18	61377552	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72477	61377552	16699696	17466	25178											
SERPINB7	8710	broad.mit.edu	37	chr18	61468118	61468118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctctgggaaggcagtcGccatgatgcatcaggaacgg	15	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61468118G>A	ENST00000398019.2	+	7	941	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	SERPINB7_ENST00000540675.1_Missense_Mutation_p.A189T|SERPINB7_ENST00000546027.1_Missense_Mutation_p.A206T|SERPINB7_ENST00000336429.2_Missense_Mutation_p.A206T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	206					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAAGGCAGTCGCCATGATGCA	0.368													False	0	False	18:61468118	0	A	61468118	G	A	61468118	3	1	88	1	0	0	0	0	1	0	0	0	14187	1087	38	1	638	1	SERPINB7	18	61468118	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90566	61468118	16609130	17467	25179											
SERPINB10	5273	broad.mit.edu	37	chr18	61582747	61582747	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttaggtttcctcaatGgactctctagcaacatcaat	5	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61582747G>A	ENST00000238508.3	+	2	62	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TTTCCTCAATGGACTCTCTAG	0.343													False	0	False	18:61582747	0	A	61582747	G	A	61582747	1	1	88	1	0	0	0	0	0	0	0	0	14178	1348	47	2		2	SERPINB10	18	61582747	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114629	61582747	16494501	17468	25180											
SERPINB10	5273	broad.mit.edu	37	chr18	61600360	61600360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagaaaagccaaaagcagtgGgccttcaactctactacaaa	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61600360G>T	ENST00000238508.3	+	7	771	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AAAAGCAGTGGGCCTTCAACT	0.378													False	0	True	18:61600360	0	T	61600360	G	T	61600360	3	4	88	1	0	0	0	0	1	0	0	0	14178	1232	43	3	734	3	SERPINB10	18	61600360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17613	61600360	16476888	17469	25181											
SERPINB8	5271	broad.mit.edu	37	chr18	61650907	61650907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagggaaagtggaatgaGcaatttgacagaaagtacac	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61650907G>A	ENST00000397985.2	+	5	775	c.519G>A	c.(517-519)gaG>gaA	p.E173E	SERPINB8_ENST00000397988.3_Silent_p.E173E|SERPINB8_ENST00000353706.2_Silent_p.E173E|SERPINB8_ENST00000542677.1_5'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	173					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGTGGAATGAGCAATTTGACA	0.393													False	0	False	18:61650907	0	A	61650907	G	A	61650907	2	1	88	1	0	0	0	0	0	0	0	1	14188	962	34	2		2	SERPINB8	18	61650907	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50547	61650907	16426341	17470	25182											
CDH7	1005	broad.mit.edu	37	chr18	63547943	63547943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgatgttgatcctggtgCtcctccttatgactccctgc	9	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:63547943C>T	ENST00000397968.2	+	12	2597	c.2171C>T	c.(2170-2172)gCt>gTt	p.A724V	CDH7_ENST00000323011.3_Missense_Mutation_p.A724V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	724					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GATCCTGGTGCTCCTCCTTAT	0.418													False	0	False	18:63547943	0	T	63547943	C	T	63547943	3	4	88	1	0	0	0	0	1	0	0	0	3138	797	28	2	2213	2	CDH7	18	63547943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1897036	63547943	14529305	17471	25183											
CDH19	28513	broad.mit.edu	37	chr18	64172320	64172320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaacttgcaaagactgcCtgtataggctcctgatctca	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:64172320C>T	ENST00000262150.2	-	12	2340	c.2048G>A	c.(2047-2049)aGg>aAg	p.R683K	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	683					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CAAAGACTGCCTGTATAGGCT	0.483													False	0	False	18:64172320	0	T	64172320	C	T	64172320	3	4	88	1	0	0	0	0	1	0	0	0	3127	681	24	2	274	2	CDH19	18	64172320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	624377	64172320	13904928	17472	25184											
DSEL	92126	broad.mit.edu	37	chr18	65178608	65178608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcctcaatggttcatactCgaaagcataacccgaattta	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178608C>T	ENST00000310045.7	-	2	4741	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1080			K -> E (in a colorectal cancer sample; somatic mutation).			integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGTTCATACTCGAAAGCATAA	0.363													False	0	False	18:65178608	0	T	65178608	C	T	65178608	3	4	88	1	0	0	0	0	1	0	0	0	4805	893	31	1	404	1	DSEL	18	65178608	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1006288	65178608	12898640	17473	25185											
DSEL	92126	broad.mit.edu	37	chr18	65178816	65178816	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaaaaatgaagctttaaCgtccagcttccactgcttaa	6	9	0	2	rs139752903		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178816C>A	ENST00000310045.7	-	2	4533	c.3060G>T	c.(3058-3060)acG>acT	p.T1020T	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1010						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAAGCTTTAACGTCCAGCTTC	0.418													False	0	False	18:65178816	0	A	65178816	C	A	65178816	2	1	88	1	0	0	0	0	0	0	0	1	4805	523	19	3		3	DSEL	18	65178816	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208	65178816	12898432	17474	25186											
DSEL	92126	broad.mit.edu	37	chr18	65178934	65178934	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggcgcctttcatttgacttCtttgttctggcaaagactct	8	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178934C>A	ENST00000310045.7	-	2	4415	c.2942G>T	c.(2941-2943)aGa>aTa	p.R981I	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	971						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CATTTGACTTCTTTGTTCTGG	0.398													False	0	True	18:65178934	0	A	65178934	C	A	65178934	3	1	88	1	0	0	0	0	1	0	0	0	4805	913	32	3	730	3	DSEL	18	65178934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	65178934	12898314	17475	25187											
RTTN	25914	broad.mit.edu	37	chr18	67855345	67855345	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacattgattcttaccAtatctataccaaaaaggctg	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67855345A>G	ENST00000255674.6	-	10	1590	c.1304T>C	c.(1303-1305)aTg>aCg	p.M435T	RTTN_ENST00000437017.1_Splice_Site_p.M435T|RTTN_ENST00000454359.1_Splice_Site_p.M435T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	435							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GATTCTTACCATATCTATACC	0.333													False	0	False	18:67855345	0	G	67855345	A	G	67855345	5	3	88	1	0	0	0	0	0	0	1	0	13816	231	8	4	5536	4	RTTN	18	67855345	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2676411	67855345	10221903	17476	25188											
RTTN	25914	broad.mit.edu	37	chr18	67863822	67863822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctgcaggcaggacacCgactgtaatgccaggcgatg	14	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67863822C>T	ENST00000255674.6	-	7	1042	c.756G>A	c.(754-756)tcG>tcA	p.S252S	RTTN_ENST00000437017.1_Silent_p.S252S|RTTN_ENST00000454359.1_Silent_p.S252S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	252							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGCAGGACACCGACTGTAATG	0.418													False	0	False	18:67863822	0	T	67863822	C	T	67863822	2	4	88	1	0	0	0	0	0	0	0	1	13816	639	23	1		1	RTTN	18	67863822	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8477	67863822	10213426	17477	25189											
SOCS6	9306	broad.mit.edu	37	chr18	67992860	67992860	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctacctccaatgcagaAtaatcaaatccaaaggaact	5	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67992860A>C	ENST00000397942.3	+	2	1272	c.956A>C	c.(955-957)aAt>aCt	p.N319T	SOCS6_ENST00000582322.1_Missense_Mutation_p.N319T	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	319					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCAATGCAGAATAATCAAATC	0.502													False	0	False	18:67992860	0	C	67992860	A	C	67992860	3	2	88	1	0	0	0	0	1	0	0	0	14998	101	4	4	958	4	SOCS6	18	67992860	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	129038	67992860	10084388	17478	25190											
NETO1	81832	broad.mit.edu	37	chr18	70417299	70417299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatctattgatactgaccgCtggacggctttatcgtgtct	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70417299C>A	ENST00000327305.6	-	9	2196	c.1539G>T	c.(1537-1539)caG>caT	p.Q513H	NETO1_ENST00000583169.1_Missense_Mutation_p.Q513H|NETO1_ENST00000299430.2_Missense_Mutation_p.Q512H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	513					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATACTGACCGCTGGACGGCTT	0.433													False	0	False	18:70417299	0	A	70417299	C	A	70417299	3	1	88	1	0	0	0	0	1	0	0	0	10407	796	28	3	70	3	NETO1	18	70417299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2424439	70417299	7659949	17479	25191											
NETO1	81832	broad.mit.edu	37	chr18	70417673	70417673	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taactcataatgaggaggttCaaatacctcctggaaaactg	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70417673C>T	ENST00000327305.6	-	9	1822	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	NETO1_ENST00000583169.1_Missense_Mutation_p.E389K|NETO1_ENST00000299430.2_Missense_Mutation_p.E388K	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	389					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGAGGAGGTTCAAATACCTCC	0.428													False	0	True	18:70417673	0	T	70417673	C	T	70417673	3	4	88	1	0	0	0	0	1	0	0	0	10407	835	29	2	444	2	NETO1	18	70417673	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	374	70417673	7659575	17480	25192											
NETO1	81832	broad.mit.edu	37	chr18	70461420	70461420	+	Missense_Mutation	SNP	C	C	T													gctagcagtagctttgccttCcttcataatttgtatagact							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70461420C>T	ENST00000327305.6	-	6	1228	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	NETO1_ENST00000583169.1_Missense_Mutation_p.E191K|NETO1_ENST00000299430.2_Missense_Mutation_p.E190K	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	191	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCTTTGCCTTCCTTCATAATT	0.458													False	0	True	18:70461420	0	T	70461420	C	T	70461420	3	4	88	1	0	0	0	0	1	0	0	0	10407	864	30	2	1050	2	NETO1	18	70461420	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43747	70461420	7615828	17481	25193	266	2									
NETO1	81832	broad.mit.edu	37	chr18	70461430	70461430	+	Missense_Mutation	SNP	T	T	G													gctttgccttccttcataatTtgtatagactccacaattcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70461430T>G	ENST00000327305.6	-	6	1218	c.561A>C	c.(559-561)caA>caC	p.Q187H	NETO1_ENST00000583169.1_Missense_Mutation_p.Q187H|NETO1_ENST00000299430.2_Missense_Mutation_p.Q186H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	187	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCTTCATAATTTGTATAGACT	0.438													False	0	True	18:70461430	0	G	70461430	T	G	70461430	3	3	88	1	0	0	0	0	1	0	0	0	10407	1838	64	4	1060	4	NETO1	18	70461430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10	70461430	7615818	17482	25194	266	2									
NETO1	81832	broad.mit.edu	37	chr18	70532465	70532465	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaaatggaggatgattaAacttgctacaactgaaacag	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70532465A>C	ENST00000327305.6	-	2	697	c.40T>G	c.(40-42)Tta>Gta	p.L14V	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.L13V|NETO1_ENST00000583169.1_Missense_Mutation_p.L14V|NETO1_ENST00000299430.2_Missense_Mutation_p.L13V	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	14					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGGATGATTAAACTTGCTACA	0.299													False	0	True	18:70532465	0	C	70532465	A	C	70532465	3	2	88	1	0	0	0	0	1	0	0	0	10407	11	1	4	1606	4	NETO1	18	70532465	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71035	70532465	7544783	17483	25195											
FBXO15	201456	broad.mit.edu	37	chr18	71796836	71796836	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcagtataattgcccaacCtaaaccaaatattctggaga	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71796836C>A	ENST00000269500.5	-	5	696	c.361G>T	c.(361-363)Ggt>Tgt	p.G121C	FBXO15_ENST00000419743.2_Missense_Mutation_p.G197C	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	121										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ATTGCCCAACCTAAACCAAAT	0.308													False	0	False	18:71796836	0	A	71796836	C	A	71796836	3	1	88	1	0	0	0	0	1	0	0	0	5768	681	24	3	967	3	FBXO15	18	71796836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1264371	71796836	6280412	17484	25196											
CNDP2	55748	broad.mit.edu	37	chr18	72187265	72187265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagggaaccaagatgctgGccgcgtacctgtatgaggtc	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72187265G>A	ENST00000324262.4	+	12	1706	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	CNDP2_ENST00000579847.1_Missense_Mutation_p.A464T|CNDP2_ENST00000324301.8_Missense_Mutation_p.A380T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	464						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CAAGATGCTGGCCGCGTACCT	0.547													False	0	False	18:72187265	0	A	72187265	G	A	72187265	3	1	88	1	0	0	0	0	1	0	0	0	3617	1203	42	2	1432	2	CNDP2	18	72187265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	390429	72187265	5889983	17485	25197											
ZNF407	55628	broad.mit.edu	37	chr18	72343146	72343146	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggtttttcagaatcatcGaactctgatagtgttgttat	9	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72343146G>A	ENST00000299687.5	+	1	171	c.171G>A	c.(169-171)tcG>tcA	p.S57S	ZNF407_ENST00000582337.1_Silent_p.S57S|ZNF407_ENST00000577538.1_Silent_p.S57S|ZNF407_ENST00000309902.6_Silent_p.S57S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S57S(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAGAATCATCGAACTCTGATA	0.413													False	0	False	18:72343146	0	A	72343146	G	A	72343146	2	1	88	1	0	0	0	0	0	0	0	1	17970	1045	37	1		1	ZNF407	18	72343146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155881	72343146	5734102	17486	25198											
ZNF407	55628	broad.mit.edu	37	chr18	72353033	72353033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgccagaaaccatgTgaaaaggcaccttgggatga	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72353033T>C	ENST00000299687.5	+	2	4757	c.4757T>C	c.(4756-4758)gTg>gCg	p.V1586A	ZNF407_ENST00000577538.1_Missense_Mutation_p.V1586A|ZNF407_ENST00000309902.6_Missense_Mutation_p.V1586A|ZNF407_ENST00000582337.1_Missense_Mutation_p.V1586A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGAAACCATGTGAAAAGGCAC	0.423													False	0	False	18:72353033	0	C	72353033	T	C	72353033	3	2	88	1	0	0	0	0	1	0	0	0	17970	1696	59	4	4763	4	ZNF407	18	72353033	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9887	72353033	5724215	17487	25199											
ZNF407	55628	broad.mit.edu	37	chr18	72775187	72775187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagccccttcaccgcggCggccttggcagaagagcccc	12	17	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775187C>T	ENST00000299687.5	+	8	5510	c.5510C>T	c.(5509-5511)gCg>gTg	p.A1837V		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1837					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTCACCGCGGCGGCCTTGGCA	0.617													False	0	False	18:72775187	0	T	72775187	C	T	72775187	3	4	88	1	0	0	0	0	1	0	0	0	17970	768	27	1	5670	1	ZNF407	18	72775187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	422154	72775187	5302061	17488	25200											
ZNF407	55628	broad.mit.edu	37	chr18	72775296	72775296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcttccagggctacgaCggggagtttgccctggaccc	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775296C>T	ENST00000299687.5	+	8	5619	c.5619C>T	c.(5617-5619)gaC>gaT	p.D1873D		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGGCTACGACGGGGAGTTTG	0.687													False	0	True	18:72775296	0	T	72775296	C	T	72775296	2	4	88	1	0	0	0	0	0	0	0	1	17970	535	19	1		1	ZNF407	18	72775296	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109	72775296	5301952	17489	25201											
ZNF407	55628	broad.mit.edu	37	chr18	72775354	72775354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgccacgctgcagacgCtggccatggccggccaggtg	15	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775354C>T	ENST00000299687.5	+	8	5677	c.5677C>T	c.(5677-5679)Ctg>Ttg	p.L1893L		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1893					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCTGCAGACGCTGGCCATGGC	0.682													False	0	False	18:72775354	0	T	72775354	C	T	72775354	2	4	88	1	0	0	0	0	0	0	0	1	17970	796	28	2		2	ZNF407	18	72775354	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58	72775354	5301894	17490	25202											
ZADH2	284273	broad.mit.edu	37	chr18	72913911	72913911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggttccaattacatgGcactttgccttctttgaaag	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72913911G>A	ENST00000322342.3	-	2	883	c.594C>T	c.(592-594)tgC>tgT	p.C198C	ZADH2_ENST00000537114.2_Silent_p.C75C	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	198						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CAATTACATGGCACTTTGCCT	0.478													False	0	False	18:72913911	0	A	72913911	G	A	72913911	2	1	88	1	0	0	0	0	0	0	0	1	17595	1195	42	2		2	ZADH2	18	72913911	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138557	72913911	5163337	17491	25203											
TSHZ1	10194	broad.mit.edu	37	chr18	72997452	72997452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaatagatgaagagcaCgtggaggatgacgggctgtc	16	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72997452C>T	ENST00000580243.1	+	2	438	c.90C>T	c.(88-90)caC>caT	p.H30H	TSHZ1_ENST00000322038.5_5'UTR			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ATGAAGAGCACGTGGAGGATG	0.448													False	0	False	18:72997452	0	T	72997452	C	T	72997452	2	4	88	1	0	0	0	0	0	0	0	1	16706	551	19	1		1	TSHZ1	18	72997452	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83541	72997452	5079796	17492	25204											
TSHZ1	10194	broad.mit.edu	37	chr18	72998525	72998525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcagaaagcagcgaaccCgtacgtcacgcccaataacc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72998525C>T	ENST00000322038.5	+	2	1612	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	TSHZ1_ENST00000580243.1_Missense_Mutation_p.P388L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	388						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCAGCGAACCCGTACGTCACG	0.622													False	0	True	18:72998525	0	T	72998525	C	T	72998525	3	4	88	1	0	0	0	0	1	0	0	0	16706	652	23	1	1030	1	TSHZ1	18	72998525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1073	72998525	5078723	17493	25205											
TSHZ1	10194	broad.mit.edu	37	chr18	72998659	72998659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgctgcagcagctcaccGcccacatgatggtcaccggg	11	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72998659G>A	ENST00000322038.5	+	2	1746	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	TSHZ1_ENST00000580243.1_Missense_Mutation_p.A433T	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	433						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCAGCTCACCGCCCACATGAT	0.597													False	0	True	18:72998659	0	A	72998659	G	A	72998659	3	1	88	1	0	0	0	0	1	0	0	0	16706	1087	38	1	1164	1	TSHZ1	18	72998659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134	72998659	5078589	17494	25206											
TSHZ1	10194	broad.mit.edu	37	chr18	72999114	72999114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcatccatgcagcctaccaGctcccgggcaccgtgaagcc	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999114G>T	ENST00000322038.5	+	2	2201	c.1617G>T	c.(1615-1617)caG>caT	p.Q539H	TSHZ1_ENST00000580243.1_Missense_Mutation_p.Q584H	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	584						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGCCTACCAGCTCCCGGGCA	0.637													False	0	False	18:72999114	0	T	72999114	G	T	72999114	3	4	88	1	0	0	0	0	1	0	0	0	16706	962	34	3	1619	3	TSHZ1	18	72999114	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	455	72999114	5078134	17495	25207											
TSHZ1	10194	broad.mit.edu	37	chr18	72999452	72999452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaagaagggccctgaggCcgagactgggaaggccaaaa	15	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999452C>T	ENST00000322038.5	+	2	2539	c.1955C>T	c.(1954-1956)gCc>gTc	p.A652V	TSHZ1_ENST00000580243.1_Missense_Mutation_p.A697V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	697						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCCCTGAGGCCGAGACTGGG	0.557													False	0	False	18:72999452	0	T	72999452	C	T	72999452	3	4	88	1	0	0	0	0	1	0	0	0	16706	739	26	2	1957	2	TSHZ1	18	72999452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338	72999452	5077796	17496	25208											
TSHZ1	10194	broad.mit.edu	37	chr18	72999799	72999799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccagcccattgacttaAccaagtccaagaacaagccg	8	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999799A>G	ENST00000322038.5	+	2	2886	c.2302A>G	c.(2302-2304)Acc>Gcc	p.T768A	TSHZ1_ENST00000580243.1_Missense_Mutation_p.T813A	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	813						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CATTGACTTAACCAAGTCCAA	0.567													False	0	False	18:72999799	0	G	72999799	A	G	72999799	3	3	88	1	0	0	0	0	1	0	0	0	16706	43	2	4	2304	4	TSHZ1	18	72999799	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	347	72999799	5077449	17497	25209											
ZNF516	9658	broad.mit.edu	37	chr18	74090972	74090972	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggacgggggggcgccccaGccacgccgggctgggcctgc	19	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74090972G>T	ENST00000443185.2	-	4	3415	c.3098C>A	c.(3097-3099)gCt>gAt	p.A1033D	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1033					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGCGCCCCAGCCACGCCGGG	0.682													False	0	False	18:74090972	0	T	74090972	G	T	74090972	3	4	88	1	0	0	0	0	1	0	0	0	18043	971	34	3	410	3	ZNF516	18	74090972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1091173	74090972	3986276	17498	25210											
ZNF516	9658	broad.mit.edu	37	chr18	74091237	74091237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacaggcttgctattggCcgagggctgcgcgccagccc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74091237C>T	ENST00000443185.2	-	4	3150	c.2833G>A	c.(2833-2835)Gcc>Acc	p.A945T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTGCTATTGGCCGAGGGCTGC	0.677													False	0	False	18:74091237	0	T	74091237	C	T	74091237	3	4	88	1	0	0	0	0	1	0	0	0	18043	739	26	2	675	2	ZNF516	18	74091237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	265	74091237	3986011	17499	25211											
ZNF516	9658	broad.mit.edu	37	chr18	74091857	74091857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtcatcccgcgtcgacCtcgcacttaaatctagcggc	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74091857C>T	ENST00000443185.2	-	4	2530	c.2213G>A	c.(2212-2214)aGg>aAg	p.R738K	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCGCGTCGACCTCGCACTTAA	0.592													False	0	False	18:74091857	0	T	74091857	C	T	74091857	3	4	88	1	0	0	0	0	1	0	0	0	18043	681	24	2	1295	2	ZNF516	18	74091857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	620	74091857	3985391	17500	25212											
ZNF516	9658	broad.mit.edu	37	chr18	74153437	74153437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccatctgatgataggtgCggaagatcttgccgcactcg	12	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74153437C>T	ENST00000443185.2	-	3	1891	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATGATAGGTGCGGAAGATCTT	0.716													False	0	False	18:74153437	0	T	74153437	C	T	74153437	3	4	88	1	0	0	0	0	1	0	0	0	18043	768	27	1	1938	1	ZNF516	18	74153437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61580	74153437	3923811	17501	25213											
ZNF516	9658	broad.mit.edu	37	chr18	74154150	74154150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttcttgaggaaccagggCtccttgaacctacggccgca	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154150C>T	ENST00000443185.2	-	3	1178	c.861G>A	c.(859-861)gaG>gaA	p.E287E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGAACCAGGGCTCCTTGAACC	0.622													False	0	True	18:74154150	0	T	74154150	C	T	74154150	2	4	88	1	0	0	0	0	0	0	0	1	18043	796	28	2		2	ZNF516	18	74154150	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	713	74154150	3923098	17502	25214											
ZNF516	9658	broad.mit.edu	37	chr18	74154335	74154335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgccgggcccctgcgCggtgatgtggtccctctcga	15	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154335C>T	ENST00000443185.2	-	3	993	c.676G>A	c.(676-678)Gcg>Acg	p.A226T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCCCTGCGCGGTGATGTGG	0.697													False	0	False	18:74154335	0	T	74154335	C	T	74154335	3	4	88	1	0	0	0	0	1	0	0	0	18043	768	27	1	2836	1	ZNF516	18	74154335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185	74154335	3922913	17503	25215											
ZNF516	9658	broad.mit.edu	37	chr18	74154528	74154528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggggcgcatgcggacccCtctgcccccttcttgctgct	11	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154528C>T	ENST00000443185.2	-	3	800	c.483G>A	c.(481-483)gaG>gaA	p.E161E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATGCGGACCCCTCTGCCCCCT	0.697													False	0	True	18:74154528	0	T	74154528	C	T	74154528	2	4	88	1	0	0	0	0	0	0	0	1	18043	680	24	2		2	ZNF516	18	74154528	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193	74154528	3922720	17504	25216											
ZNF236	7776	broad.mit.edu	37	chr18	74561610	74561610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacgccacatgagggatcacGagcgaaatgacaaggtatgt	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74561610G>A	ENST00000253159.8	+	2	376	c.178G>A	c.(178-180)Gag>Aag	p.E60K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E62K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	60					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGGGATCACGAGCGAAATGA	0.358													False	0	False	18:74561610	0	A	74561610	G	A	74561610	3	1	88	1	0	0	0	0	1	0	0	0	17872	1059	37	1	184	1	ZNF236	18	74561610	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407082	74561610	3515638	17505	25217											
ZNF236	7776	broad.mit.edu	37	chr18	74620380	74620380	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccactcaaatgcaggtggAgatcgagagcgacgagctgc	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74620380A>C	ENST00000253159.8	+	14	2594	c.2396A>C	c.(2395-2397)gAg>gCg	p.E799A	ZNF236_ENST00000320610.9_Missense_Mutation_p.E801A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	799					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATGCAGGTGGAGATCGAGAGC	0.622													False	0	False	18:74620380	0	C	74620380	A	C	74620380	3	2	88	1	0	0	0	0	1	0	0	0	17872	304	11	4	2450	4	ZNF236	18	74620380	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	58770	74620380	3456868	17506	25218											
ZNF236	7776	broad.mit.edu	37	chr18	74649280	74649280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcctggacactgtcaCactcaacatcacctctcagg	9	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74649280C>T	ENST00000253159.8	+	26	4955	c.4757C>T	c.(4756-4758)aCa>aTa	p.T1586I	ZNF236_ENST00000320610.9_Missense_Mutation_p.T1588I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1586					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACACTGTCACACTCAACATC	0.512													False	0	False	18:74649280	0	T	74649280	C	T	74649280	3	4	88	1	0	0	0	0	1	0	0	0	17872	478	17	2	4859	2	ZNF236	18	74649280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28900	74649280	3427968	17507	25219											
MBP	4155	broad.mit.edu	37	chr18	74700865	74700865	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggggtggtgtgcgaggcgTcacctggaaagacacagaga	18	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74700865T>C	ENST00000355994.2	-	6	948	c.685A>G	c.(685-687)Acg>Gcg	p.T229A	MBP_ENST00000580402.1_Missense_Mutation_p.T229A|MBP_ENST00000397875.3_Missense_Mutation_p.T106A|MBP_ENST00000397865.5_Missense_Mutation_p.T96A|MBP_ENST00000578193.1_Missense_Mutation_p.T96A|MBP_ENST00000526111.1_Missense_Mutation_p.T74A|MBP_ENST00000527041.1_Intron|MBP_ENST00000397869.3_Missense_Mutation_p.T96A|MBP_ENST00000579129.1_Missense_Mutation_p.T229A|MBP_ENST00000354542.4_Intron|MBP_ENST00000528160.1_Intron|MBP_ENST00000397866.4_Missense_Mutation_p.T96A|MBP_ENST00000382582.3_Missense_Mutation_p.T122A|MBP_ENST00000359645.3_Missense_Mutation_p.T122A	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein	229					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		GTGCGAGGCGTCACCTGGAAA	0.537													False	0	False	18:74700865	0	C	74700865	T	C	74700865	3	2	88	1	0	0	0	0	1	0	0	0	9426	1667	58	4	245	4	MBP	18	74700865	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	51585	74700865	3376383	17508	25220											
GALR1	2587	broad.mit.edu	37	chr18	74962940	74962940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcgcggcgctcctcctccCtcagggtgtcccgcaacgcg	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74962940C>A	ENST00000299727.3	+	1	436	c.436C>A	c.(436-438)Ctc>Atc	p.L146I		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	146					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CTCCTCCTCCCTCAGGGTGTC	0.672													False	0	True	18:74962940	0	A	74962940	C	A	74962940	3	1	88	1	0	0	0	0	1	0	0	0	6270	681	24	3	438	3	GALR1	18	74962940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262075	74962940	3114308	17509	25221											
SALL3	27164	broad.mit.edu	37	chr18	76757124	76757124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatctccgtcatccagaaCggcggcatcccccagctccc	9	18	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:76757124C>T	ENST00000536229.3	+	3	3799	c.3090C>T	c.(3088-3090)aaC>aaT	p.N1030N	SALL3_ENST00000537592.2_Silent_p.N1235N|SALL3_ENST00000575389.2_Silent_p.N1163N			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCATCCAGAACGGCGGCATCC	0.617													False	0	False	18:76757124	0	T	76757124	C	T	76757124	2	4	88	1	0	0	0	0	0	0	0	1	13891	535	19	1		1	SALL3	18	76757124	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1794184	76757124	1320124	17510	25222											
ATP9B	374868	broad.mit.edu	37	chr18	77037156	77037156	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggaccagcactatcccagaGgaacttgggcgcctggtgta	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77037156G>T	ENST00000426216.2	+	13	1388	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	ATP9B_ENST00000307671.7_Missense_Mutation_p.E457D	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	457					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTATCCCAGAGGAACTTGGGC	0.453													False	0	False	18:77037156	0	T	77037156	G	T	77037156	3	4	88	1	0	0	0	0	1	0	0	0	1203	991	35	3	1421	3	ATP9B	18	77037156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	280032	77037156	1040092	17511	25223											
ATP9B	374868	broad.mit.edu	37	chr18	77090061	77090061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaagggcgctgacgtggCcatgtctcctatcgtgcagt	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77090061C>T	ENST00000426216.2	+	17	2002	c.1985C>T	c.(1984-1986)gCc>gTc	p.A662V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A662V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	662					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCTGACGTGGCCATGTCTCCT	0.468													False	0	False	18:77090061	0	T	77090061	C	T	77090061	3	4	88	1	0	0	0	0	1	0	0	0	1203	739	26	2	2051	2	ATP9B	18	77090061	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52905	77090061	987187	17512	25224											
ATP9B	374868	broad.mit.edu	37	chr18	77133958	77133958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagttcgtccacgtggtggCcatctccttcaccgcactga	10	14	2	2	rs140981029		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77133958C>T	ENST00000426216.2	+	28	3148	c.3131C>T	c.(3130-3132)gCc>gTc	p.A1044V	ATP9B_ENST00000543761.1_Missense_Mutation_p.A365V|ATP9B_ENST00000307671.7_Missense_Mutation_p.A1044V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1044					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CACGTGGTGGCCATCTCCTTC	0.597													False	0	False	18:77133958	0	T	77133958	C	T	77133958	3	4	88	1	0	0	0	0	1	0	0	0	1203	739	26	2	3241	2	ATP9B	18	77133958	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43897	77133958	943290	17513	25225											
NFATC1	4772	broad.mit.edu	37	chr18	77170796	77170796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcgtgcctgagcccggCcagcagcctgtcctcccgga	11	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77170796C>T	ENST00000253506.5	+	2	890	c.521C>T	c.(520-522)gCc>gTc	p.A174V	NFATC1_ENST00000542384.1_Missense_Mutation_p.A174V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.A161V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A161V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A161V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A174V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A161V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A174V|NFATC1_ENST00000427363.2_Missense_Mutation_p.A174V	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	174	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTGAGCCCGGCCAGCAGCCTG	0.662													False	0	False	18:77170796	0	T	77170796	C	T	77170796	3	4	88	1	0	0	0	0	1	0	0	0	10429	739	26	2	619	2	NFATC1	18	77170796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36838	77170796	906452	17514	25226											
NFATC1	4772	broad.mit.edu	37	chr18	77171307	77171307	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaccctggagcagccgccCtcagtggcgctcaaggtgga	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77171307C>A	ENST00000253506.5	+	2	1401	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P	NFATC1_ENST00000542384.1_Silent_p.P344P|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Silent_p.P331P|NFATC1_ENST00000329101.4_Silent_p.P331P|NFATC1_ENST00000318065.5_Silent_p.P331P|NFATC1_ENST00000591814.1_Silent_p.P344P|NFATC1_ENST00000592223.1_Silent_p.P331P|NFATC1_ENST00000587635.1_Silent_p.P344P|NFATC1_ENST00000427363.2_Silent_p.P344P	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	344					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGCAGCCGCCCTCAGTGGCGC	0.687													False	0	True	18:77171307	0	A	77171307	C	A	77171307	2	1	88	1	0	0	0	0	0	0	0	1	10429	668	24	3		3	NFATC1	18	77171307	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	511	77171307	905941	17515	25227											
NFATC1	4772	broad.mit.edu	37	chr18	77171438	77171438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgcgaccagtacctggCggtgccgcagcacccctacc	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77171438C>T	ENST00000253506.5	+	2	1532	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V	NFATC1_ENST00000542384.1_Missense_Mutation_p.A388V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.A375V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A375V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A375V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A388V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A375V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A388V|NFATC1_ENST00000427363.2_Missense_Mutation_p.A388V	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	388					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CAGTACCTGGCGGTGCCGCAG	0.706													False	0	False	18:77171438	0	T	77171438	C	T	77171438	3	4	88	1	0	0	0	0	1	0	0	0	10429	768	27	1	1261	1	NFATC1	18	77171438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131	77171438	905810	17516	25228											
NFATC1	4772	broad.mit.edu	37	chr18	77193710	77193710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccggggggccgtgaaggCgtcggccggaggacacccca	18	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77193710C>T	ENST00000253506.5	+	3	1727	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	NFATC1_ENST00000542384.1_Missense_Mutation_p.A453V|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000586434.1_Missense_Mutation_p.A440V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A440V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A440V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A453V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A440V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A453V|NFATC1_ENST00000427363.2_Missense_Mutation_p.A453V	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	453	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCCGTGAAGGCGTCGGCCGGA	0.632													False	0	False	18:77193710	0	T	77193710	C	T	77193710	3	4	88	1	0	0	0	0	1	0	0	0	10429	768	27	1	1460	1	NFATC1	18	77193710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22272	77193710	883538	17517	25229											
NFATC1	4772	broad.mit.edu	37	chr18	77246678	77246678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctggtctcgaacactcGctctgccccagcagcccctc	7	22	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77246678G>A	ENST00000329101.4	+	9	2540	c.2484G>A	c.(2482-2484)tcG>tcA	p.S828S	NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000545796.1_Silent_p.S369S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000427363.2_Silent_p.S841S|NFATC1_ENST00000253506.5_Intron	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	841	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TCGAACACTCGCTCTGCCCCA	0.751													False	0	False	18:77246678	0	A	77246678	G	A	77246678	2	1	88	1	0	0	0	0	0	0	0	1	10429	1074	38	1		1	NFATC1	18	77246678	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52968	77246678	830570	17518	25230											
NFATC1	4772	broad.mit.edu	37	chr18	77287542	77287542	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacagtaaatgaaataataCgaaatgacctctccagcacg	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77287542C>T	ENST00000329101.4	+	10	2814	c.2758C>T	c.(2758-2760)Cga>Tga	p.R920*	NFATC1_ENST00000542384.1_Nonsense_Mutation_p.R703*|NFATC1_ENST00000545796.1_Nonsense_Mutation_p.R461*|NFATC1_ENST00000397790.2_3'UTR|NFATC1_ENST00000586434.1_Nonsense_Mutation_p.R690*|NFATC1_ENST00000590172.1_3'UTR|NFATC1_ENST00000318065.5_3'UTR|NFATC1_ENST00000427363.2_Nonsense_Mutation_p.R933*|NFATC1_ENST00000253506.5_3'UTR	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	933	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TGAAATAATACGAAATGACCT	0.428													False	0	False	18:77287542	0	T	77287542	C	T	77287542	4	4	88	1	0	0	0	0	0	1	0	0	10429	528	19	1	2986	1	NFATC1	18	77287542	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40864	77287542	789706	17519	25231											
CTDP1	9150	broad.mit.edu	37	chr18	77513682	77513682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagctgaatgaagaggaCgccgccagcgagtccagcag	15	10	0	3	rs112322343	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77513682C>T	ENST00000299543.7	+	13	2925	c.2778C>T	c.(2776-2778)gaC>gaT	p.D926D	CTDP1_ENST00000075430.7_3'UTR	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	926					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ATGAAGAGGACGCCGCCAGCG	0.627													False	0	False	18:77513682	0	T	77513682	C	T	77513682	2	4	88	1	0	0	0	0	0	0	0	1	4027	535	19	1		1	CTDP1	18	77513682	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	226140	77513682	563566	17520	25232											
KCNG2	26251	broad.mit.edu	37	chr18	77659147	77659147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggccgagagcaagtgCgccttcctgcgcgcgccact	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659147C>T	ENST00000316249.3	+	2	732	c.732C>T	c.(730-732)tgC>tgT	p.C244C	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	244					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGAGCAAGTGCGCCTTCCTGC	0.677													False	0	False	18:77659147	0	T	77659147	C	T	77659147	2	4	88	1	0	0	0	0	0	0	0	1	8078	776	27	1		1	KCNG2	18	77659147	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145465	77659147	418101	17521	25233											
KCNG2	26251	broad.mit.edu	37	chr18	77659170	77659170	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcgcgcgccactcaAcatcattgacatcctggcgc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659170A>T	ENST00000316249.3	+	2	755	c.755A>T	c.(754-756)aAc>aTc	p.N252I	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	252					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGCCACTCAACATCATTGAC	0.682													False	0	False	18:77659170	0	T	77659170	A	T	77659170	3	4	88	1	0	0	0	0	1	0	0	0	8078	43	2	5	761	5	KCNG2	18	77659170	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23	77659170	418078	17522	25234											
KCNG2	26251	broad.mit.edu	37	chr18	77659486	77659486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgacttctccagcgtgccCgccagctattggtgggccgt	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659486C>T	ENST00000316249.3	+	2	1071	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	357					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCAGCGTGCCCGCCAGCTATT	0.706													False	0	True	18:77659486	0	T	77659486	C	T	77659486	2	4	88	1	0	0	0	0	0	0	0	1	8078	639	23	1		1	KCNG2	18	77659486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316	77659486	417762	17523	25235											
KCNG2	26251	broad.mit.edu	37	chr18	77659752	77659752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgaggacagctcgcaggGccccgacagcgcgggcctgg	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659752G>A	ENST00000316249.3	+	2	1337	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	446					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGCTCGCAGGGCCCCGACAGC	0.761													False	0	True	18:77659752	0	A	77659752	G	A	77659752	3	1	88	1	0	0	0	0	1	0	0	0	8078	1203	42	2	1343	2	KCNG2	18	77659752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266	77659752	417496	17524	25236											
PQLC1	80148	broad.mit.edu	37	chr18	77679208	77679208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctccgtggactggtggCggtggttgcggtaaagctgg	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77679208C>T	ENST00000397778.2	-	5	766	c.584G>A	c.(583-585)cGc>cAc	p.R195H	PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000357575.4_Missense_Mutation_p.R177H|PQLC1_ENST00000409073.1_Missense_Mutation_p.R112H	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	195	PQ-loop 2.					integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GGACTGGTGGCGGTGGTTGCG	0.602													False	0	False	18:77679208	0	T	77679208	C	T	77679208	3	4	88	1	0	0	0	0	1	0	0	0	12492	768	27	1	239	1	PQLC1	18	77679208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19456	77679208	398040	17525	25237											
ADNP2	22850	broad.mit.edu	37	chr18	77896474	77896474	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaagaagcaatttcttaaaGattatttccataagaaacca	4	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77896474G>T	ENST00000262198.4	+	4	3633	c.3178G>T	c.(3178-3180)Gat>Tat	p.D1060Y		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1060					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATTTCTTAAAGATTATTTCCA	0.348													False	0	True	18:77896474	0	T	77896474	G	T	77896474	3	4	88	1	0	0	0	0	1	0	0	0	324	942	33	3	3188	3	ADNP2	18	77896474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217266	77896474	180774	17526	25238											
ADNP2	22850	broad.mit.edu	37	chr18	77896614	77896614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaataaaaaatcacaaGccttctgtacttttaggctt	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77896614G>T	ENST00000262198.4	+	4	3773	c.3318G>T	c.(3316-3318)aaG>aaT	p.K1106N		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1106					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AAAATCACAAGCCTTCTGTAC	0.303													False	0	False	18:77896614	0	T	77896614	G	T	77896614	3	4	88	1	0	0	0	0	1	0	0	0	324	962	34	3	3328	3	ADNP2	18	77896614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140	77896614	180634	17527	25239											
MIER2	54531	broad.mit.edu	37	chr19	308850	308850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagccgcgtctgctgggCgaagtagtcgtagcgctccg	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:308850C>T	ENST00000264819.4	-	11	1070	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTGCTGGGCGAAGTAGTCG	0.677													False	0	True	19:308850	0	T	308850	C	T	308850	3	4	88	1	0	0	0	0	1	0	0	0	9648	768	27	1	593	1	MIER2	19	308850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		308850	58820133	17528	25240											
THEG	51298	broad.mit.edu	37	chr19	371285	371285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgactcgacgctctgtattCcagggaggaccgaggaatgg	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:371285C>T	ENST00000342640.4	-	6	715	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	THEG_ENST00000346878.2_Missense_Mutation_p.E201K	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	225					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCTGTATTCCAGGGAGGAC	0.632													False	0	False	19:371285	0	T	371285	C	T	371285	3	4	88	1	0	0	0	0	1	0	0	0	15939	864	30	2	478	2	THEG	19	371285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62435	371285	58757698	17529	25241											
THEG	51298	broad.mit.edu	37	chr19	372691	372691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacagttcctccacgcggCgggacaccgctatgcaaaat	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:372691C>T	ENST00000342640.4	-	5	617	c.575G>A	c.(574-576)cGc>cAc	p.R192H	THEG_ENST00000346878.2_Missense_Mutation_p.R168H	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	192					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCACGCGGCGGGACACCGC	0.552													False	0	True	19:372691	0	T	372691	C	T	372691	3	4	88	1	0	0	0	0	1	0	0	0	15939	768	27	1	580	1	THEG	19	372691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1406	372691	58756292	17530	25242											
SHC2	25759	broad.mit.edu	37	chr19	436418	436418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcgacgtaggccacgTaatccgtcatgtcctggggg	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:436418T>C	ENST00000264554.6	-	6	787	c.788A>G	c.(787-789)tAc>tGc	p.Y263C		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	263	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAGGCCACGTAATCCGTCAT	0.716													False	0	False	19:436418	0	C	436418	T	C	436418	3	2	88	1	0	0	0	0	1	0	0	0	14352	1638	57	4	988	4	SHC2	19	436418	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63727	436418	58692565	17531	25243											
SHC2	25759	broad.mit.edu	37	chr19	440898	440898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgttaaagtccagggagCgcatagagcggagaacctcg	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:440898C>T	ENST00000264554.6	-	2	502	c.503G>A	c.(502-504)cGc>cAc	p.R168H		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	168	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCAGGGAGCGCATAGAGCG	0.637													False	0	False	19:440898	0	T	440898	C	T	440898	3	4	88	1	0	0	0	0	1	0	0	0	14352	768	27	1	1289	1	SHC2	19	440898	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4480	440898	58688085	17532	25244											
CDC34	997	broad.mit.edu	37	chr19	535886	535886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactctccaccagcctttcGgttcctgaccaagatgtggc	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:535886G>A	ENST00000215574.4	+	2	445	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	76					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCCTTTCGGTTCCTGACC	0.647													False	0	False	19:535886	0	A	535886	G	A	535886	3	1	88	1	0	0	0	0	1	0	0	0	3090	1116	39	1	233	1	CDC34	19	535886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94988	535886	58593097	17533	25245											
CDC34	997	broad.mit.edu	37	chr19	541501	541501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaggtggaggaggaggcCgacagctgcttcggggacga	21	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:541501C>T	ENST00000215574.4	+	5	878	c.660C>T	c.(658-660)gcC>gcT	p.A220A		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	220	Asp/Glu-rich (acidic).|SCF-binding.				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGGAGGCCGACAGCTGCT	0.622													False	0	False	19:541501	0	T	541501	C	T	541501	2	4	88	1	0	0	0	0	0	0	0	1	3090	639	23	1		1	CDC34	19	541501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5615	541501	58587482	17534	25246											
BSG	682	broad.mit.edu	37	chr19	578071	578071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaaccacctgacccgggCgcccagggtcaagtgggtcc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:578071C>T	ENST00000333511.3	+	2	435	c.365C>T	c.(364-366)gCg>gTg	p.A122V	BSG_ENST00000346916.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	122					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACCCGGGCGCCCAGGGTC	0.687													False	0	True	19:578071	0	T	578071	C	T	578071	3	4	88	1	0	0	0	0	1	0	0	0	1536	768	27	1	407	1	BSG	19	578071	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36570	578071	58550912	17535	25247											
BSG	682	broad.mit.edu	37	chr19	582313	582313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccttcttcagatgacgaCgccggctctgcacccctgta	10	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:582313C>T	ENST00000333511.3	+	7	1147	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	BSG_ENST00000346916.4_Silent_p.D179D|BSG_ENST00000545507.2_Silent_p.D150D|BSG_ENST00000353555.4_Silent_p.D243D	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	359	Poly-Asp.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGATGACGACGCCGGCTCTG	0.642													False	0	False	19:582313	0	T	582313	C	T	582313	2	4	88	1	0	0	0	0	0	0	0	1	1536	535	19	1		1	BSG	19	582313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4242	582313	58546670	17536	25248											
HCN2	610	broad.mit.edu	37	chr19	603718	603718	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccgcaccggcattgtgatCgaggacaacacggagatcat	11	11	1	2	rs143343881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:603718C>T	ENST00000251287.2	+	2	860	c.807C>T	c.(805-807)atC>atT	p.I269I		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	269					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATTGTGATCGAGGACAACA	0.557													False	0	False	19:603718	0	T	603718	C	T	603718	2	4	88	1	0	0	0	0	0	0	0	1	7044	874	31	1		1	HCN2	19	603718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21405	603718	58525265	17537	25249											
POLRMT	5442	broad.mit.edu	37	chr19	623477	623477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttgacctccttgcttgGcaacgtgggcttctccacgg	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:623477G>A	ENST00000588649.2	-	6	1351	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	423					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTTGCTTGGCAACGTGGGC	0.682													False	0	True	19:623477	0	A	623477	G	A	623477	3	1	88	1	0	0	0	0	1	0	0	0	12307	1203	42	2	2489	2	POLRMT	19	623477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19759	623477	58505506	17538	25250											
POLRMT	5442	broad.mit.edu	37	chr19	629762	629762	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacatcgaggctcagcttCccaggggcctcctgcagcag	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:629762C>T	ENST00000588649.2	-	3	684	c.600G>A	c.(598-600)ggG>ggA	p.G200G		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	200					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCAGCTTCCCAGGGGCCT	0.701													False	0	True	19:629762	0	T	629762	C	T	629762	2	4	88	1	0	0	0	0	0	0	0	1	12307	842	30	2		2	POLRMT	19	629762	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6285	629762	58499221	17539	25251											
POLRMT	5442	broad.mit.edu	37	chr19	629970	629970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatacgcatctgctgggtcCgcttatccttctccagtatc	8	14	2	0	rs113148837	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:629970C>T	ENST00000588649.2	-	3	476	c.392G>A	c.(391-393)cGg>cAg	p.R131Q		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	131					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGGGTCCGCTTATCCTT	0.637													False	0	False	19:629970	0	T	629970	C	T	629970	3	4	88	1	0	0	0	0	1	0	0	0	12307	652	23	1	3376	1	POLRMT	19	629970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208	629970	58499013	17540	25252											
RNF126	55658	broad.mit.edu	37	chr19	651781	651781	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagggaacgtggggatctcGaagctgtcatcgaagatgcc	16	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:651781G>A	ENST00000292363.5	-	4	428	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	91							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGGATCTCGAAGCTGTCAT	0.677													False	0	False	19:651781	0	A	651781	G	A	651781	2	1	88	1	0	0	0	0	0	0	0	1	13514	1049	37	1		1	RNF126	19	651781	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21811	651781	58477202	17541	25253											
RNF126	55658	broad.mit.edu	37	chr19	652265	652265	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggctctggtctgtgggagCtgtggagggggcagaaccat	18	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:652265C>A	ENST00000292363.5	-	3	321	c.166G>T	c.(166-168)Gct>Tct	p.A56S		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	56							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGTGGGAGCTGTGGAGGGG	0.687													False	0	False	19:652265	0	A	652265	C	A	652265	3	1	88	1	0	0	0	0	1	0	0	0	13514	797	28	3	797	3	RNF126	19	652265	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	484	652265	58476718	17542	25254											
FSTL3	10272	broad.mit.edu	37	chr19	677877	677877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgggccgagtgctgtgcCtccggcaacattgacaccgc	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:677877C>T	ENST00000166139.4	+	2	221	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	63	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGCTGTGCCTCCGGCAACA	0.647			T	CCND1	B-CLL								False	0	False	19:677877	0	T	677877	C	T	677877	2	4	88	1	0	0	0	0	0	0	0	1	6120	668	24	2		2	FSTL3	19	677877	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25612	677877	58451106	17543	25255											
FSTL3	10272	broad.mit.edu	37	chr19	681539	681539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccgctccatcggcgtgCgccacgcgggcagctgcgca	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:681539C>T	ENST00000166139.4	+	4	744	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	238	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGGCGTGCGCCACGCGGG	0.697			T	CCND1	B-CLL								False	0	False	19:681539	0	T	681539	C	T	681539	3	4	88	1	0	0	0	0	1	0	0	0	6120	768	27	1	726	1	FSTL3	19	681539	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3662	681539	58447444	17544	25256											
PALM	5064	broad.mit.edu	37	chr19	746591	746591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggaggatgaggccgagaCcaagaaggtgctgggccttc	17	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:746591C>T	ENST00000264560.7	+	8	1003	c.809C>T	c.(808-810)aCc>aTc	p.T270I	PALM_ENST00000338448.5_Missense_Mutation_p.T314I|PALM_ENST00000593172.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	314					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GAGGCCGAGACCAAGAAGGTG	0.652													False	0	False	19:746591	0	T	746591	C	T	746591	3	4	88	1	0	0	0	0	1	0	0	0	11476	507	18	2	975	2	PALM	19	746591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65052	746591	58382392	17545	25257											
PALM	5064	broad.mit.edu	37	chr19	746669	746669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcggctgagcccaaggagcCtgcaccacccaacggcagtg	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:746669C>A	ENST00000264560.7	+	8	1081	c.887C>A	c.(886-888)cCt>cAt	p.P296H	PALM_ENST00000338448.5_Missense_Mutation_p.P340H|PALM_ENST00000593172.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	340					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CCCAAGGAGCCTGCACCACCC	0.667													False	0	False	19:746669	0	A	746669	C	A	746669	3	1	88	1	0	0	0	0	1	0	0	0	11476	681	24	3	1053	3	PALM	19	746669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78	746669	58382314	17546	25258											
PTBP1	5725	broad.mit.edu	37	chr19	806450	806450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgccctggcccccctggCcatcccctcggcggcggcgg	15	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:806450C>T	ENST00000356948.6	+	10	1436	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V	PTBP1_ENST00000349038.4_Missense_Mutation_p.A312V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A331V|PTBP1_ENST00000350092.4_Intron	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	312	RRM 3.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCCCTGGCCATCCCCTCG	0.697													False	0	False	19:806450	0	T	806450	C	T	806450	3	4	88	1	0	0	0	0	1	0	0	0	12801	739	26	2	1051	2	PTBP1	19	806450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59781	806450	58322533	17547	25259											
PTBP1	5725	broad.mit.edu	37	chr19	807883	807883	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagagagtcacaccccaAagcctctttattcttttcgg	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:807883A>C	ENST00000356948.6	+	11	1557	c.1134A>C	c.(1132-1134)caA>caC	p.Q378H	PTBP1_ENST00000349038.4_Missense_Mutation_p.Q352H|PTBP1_ENST00000394601.4_Missense_Mutation_p.Q371H|PTBP1_ENST00000350092.4_Missense_Mutation_p.Q18H	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	352	RRM 3.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACACCCCAAAGCCTCTTTA	0.468													False	0	True	19:807883	0	C	807883	A	C	807883	3	2	88	1	0	0	0	0	1	0	0	0	12801	11	1	4	1176	4	PTBP1	19	807883	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1433	807883	58321100	17548	25260											
AZU1	566	broad.mit.edu	37	chr19	828350	828350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgccctgatccatgcccGcttcgtgatgaccgcggcca	13	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:828350G>A	ENST00000233997.2	+	2	200	c.179G>A	c.(178-180)cGc>cAc	p.R60H		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	60	Hydrophobic.|Peptidase S1.|Possesses antibiotic activity.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCATGCCCGCTTCGTGATG	0.667													False	0	True	19:828350	0	A	828350	G	A	828350	3	1	88	1	0	0	0	0	1	0	0	0	1247	1087	38	1	185	1	AZU1	19	828350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20467	828350	58300633	17549	25261											
ARID3A	1820	broad.mit.edu	37	chr19	964313	964313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgttcatgctgtacgtgCtggtgacggagaagggcggc	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:964313C>A	ENST00000263620.3	+	5	1159	c.832C>A	c.(832-834)Ctg>Atg	p.L278M		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	278	ARID.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGTACGTGCTGGTGACGGA	0.617													False	0	False	19:964313	0	A	964313	C	A	964313	3	1	88	1	0	0	0	0	1	0	0	0	918	796	28	3	846	3	ARID3A	19	964313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135963	964313	58164670	17550	25262											
ARID3A	1820	broad.mit.edu	37	chr19	971939	971939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccaacaaaggaggcggCggcggcggcggcagcagcag	18	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:971939C>T	ENST00000263620.3	+	9	1983	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	552	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G552G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGAggcggcggcggcggcg	0.657													False	0	True	19:971939	0	T	971939	C	T	971939	2	4	88	1	0	0	0	0	0	0	0	1	918	755	27	1		1	ARID3A	19	971939	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7626	971939	58157044	17551	25263											
WDR18	57418	broad.mit.edu	37	chr19	990913	990913	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgacgtgtccatcatggCagtgaccatggacctggctg	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:990913C>A	ENST00000251289.5	+	5	682	c.659C>A	c.(658-660)gCa>gAa	p.A220E	WDR18_ENST00000587001.2_Missense_Mutation_p.A220E	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	220										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATCATGGCAGTGACCATG	0.652													False	0	False	19:990913	0	A	990913	C	A	990913	3	1	88	1	0	0	0	0	1	0	0	0	17362	710	25	3	677	3	WDR18	19	990913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18974	990913	58138070	17552	25264											
GRIN3B	116444	broad.mit.edu	37	chr19	1005022	1005022	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgacggcaagtacggcgccCtgcgggacggccgctggacc	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1005022C>A	ENST00000234389.3	+	3	1541	c.1522C>A	c.(1522-1524)Ctg>Atg	p.L508M	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	508					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTACGGCGCCCTGCGGGACGG	0.687													False	0	True	19:1005022	0	A	1005022	C	A	1005022	3	1	88	1	0	0	0	0	1	0	0	0	6831	680	24	3	1532	3	GRIN3B	19	1005022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14109	1005022	58123961	17553	25265											
GRIN3B	116444	broad.mit.edu	37	chr19	1005113	1005113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagtatcaactccgcccGctcacaggtggtggacttca	9	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1005113G>A	ENST00000234389.3	+	3	1632	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	538					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AACTCCGCCCGCTCACAGGTG	0.687													False	0	True	19:1005113	0	A	1005113	G	A	1005113	3	1	88	1	0	0	0	0	1	0	0	0	6831	1087	38	1	1623	1	GRIN3B	19	1005113	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	1005113	58123870	17554	25266											
CNN2	1265	broad.mit.edu	37	chr19	1032601	1032601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggccatggtcagctacgGcatgaaccctgtggacctgt	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1032601G>A	ENST00000263097.4	+	4	659	c.296G>A	c.(295-297)gGc>gAc	p.G99D	CNN2_ENST00000565096.2_Missense_Mutation_p.G99D|CNN2_ENST00000348419.3_Missense_Mutation_p.G99D|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Missense_Mutation_p.G99D	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	99	CH.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCAGCTACGGCATGAACCCT	0.577													False	0	False	19:1032601	0	A	1032601	G	A	1032601	3	1	88	1	0	0	0	0	1	0	0	0	3633	1203	42	2	310	2	CNN2	19	1032601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27488	1032601	58096382	17555	25267											
ABCA7	10347	broad.mit.edu	37	chr19	1041388	1041388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggacacagctgatgctgCtgctctggaagaatttcatg	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1041388C>T	ENST00000263094.6	+	2	259	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	ABCA7_ENST00000433129.1_Silent_p.L10L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	10					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGATGCTGCTGCTCTGGAA	0.652													False	0	True	19:1041388	0	T	1041388	C	T	1041388	2	4	88	1	0	0	0	0	0	0	0	1	37	796	28	2		2	ABCA7	19	1041388	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8787	1041388	58087595	17556	25268											
ABCA7	10347	broad.mit.edu	37	chr19	1042089	1042089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgctagccgatgcccGcactgtgctgggaggggcca	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1042089G>A	ENST00000263094.6	+	5	560	c.329G>A	c.(328-330)cGc>cAc	p.R110H	ABCA7_ENST00000433129.1_Missense_Mutation_p.R110H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	110					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGATGCCCGCACTGTGCTG	0.726													False	0	True	19:1042089	0	A	1042089	G	A	1042089	3	1	88	1	0	0	0	0	1	0	0	0	37	1087	38	1	343	1	ABCA7	19	1042089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	701	1042089	58086894	17557	25269											
ABCA7	10347	broad.mit.edu	37	chr19	1043053	1043053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctagctcctggcgctgcGcagcctggtggagcttcggg	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043053G>A	ENST00000263094.6	+	8	824	c.593G>A	c.(592-594)cGc>cAc	p.R198H	ABCA7_ENST00000433129.1_Missense_Mutation_p.R198H|ABCA7_ENST00000435683.2_Missense_Mutation_p.R60H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	198					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.R198L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCGCTGCGCAGCCTGGTG	0.667													False	0	False	19:1043053	0	A	1043053	G	A	1043053	3	1	88	1	0	0	0	0	1	0	0	0	37	1087	38	1	619	1	ABCA7	19	1043053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	964	1043053	58085930	17558	25270											
ABCA7	10347	broad.mit.edu	37	chr19	1043394	1043394	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgctgtcccgcctgctctgGagacgcctgaagcctctgat	11	16	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043394G>A	ENST00000263094.6	+	9	1083	c.852G>A	c.(850-852)tgG>tgA	p.W284*	ABCA7_ENST00000433129.1_Nonsense_Mutation_p.W284*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.W146*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	284					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGCTCTGGAGACGCCTGA	0.662													False	0	False	19:1043394	0	A	1043394	G	A	1043394	4	1	88	1	0	0	0	0	0	1	0	0	37	1183	41	2	882	2	ABCA7	19	1043394	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	341	1043394	58085589	17559	25271											
ABCA7	10347	broad.mit.edu	37	chr19	1043455	1043455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagatacaccttttaccCggaagctcatggcccaggtg	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043455C>T	ENST00000263094.6	+	9	1144	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	ABCA7_ENST00000433129.1_Missense_Mutation_p.R305W|ABCA7_ENST00000435683.2_Missense_Mutation_p.R167W	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	305					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTTTACCCGGAAGCTCAT	0.652													False	0	True	19:1043455	0	T	1043455	C	T	1043455	3	4	88	1	0	0	0	0	1	0	0	0	37	643	23	1	943	1	ABCA7	19	1043455	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61	1043455	58085528	17560	25272											
ABCA7	10347	broad.mit.edu	37	chr19	1045210	1045210	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacattgacgtggtcacgagGaccaataagatcagggacag	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1045210G>A	ENST00000263094.6	+	12	1656	c.1425G>A	c.(1423-1425)agG>agA	p.R475R	ABCA7_ENST00000433129.1_Silent_p.R475R|ABCA7_ENST00000435683.2_Silent_p.R337R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	475					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCACGAGGACCAATAAGA	0.652													False	0	False	19:1045210	0	A	1045210	G	A	1045210	2	1	88	1	0	0	0	0	0	0	0	1	37	1165	41	2		2	ABCA7	19	1045210	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1755	1045210	58083773	17561	25273											
ABCA7	10347	broad.mit.edu	37	chr19	1046243	1046243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcaggttttgggaccctgGcccagccgcggaccccctga	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1046243G>A	ENST00000263094.6	+	13	1691	c.1460G>A	c.(1459-1461)gGc>gAc	p.G487D	ABCA7_ENST00000433129.1_Missense_Mutation_p.G487D|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.G349D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	487					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACCCTGGCCCAGCCGCG	0.657													False	0	True	19:1046243	0	A	1046243	G	A	1046243	3	1	88	1	0	0	0	0	1	0	0	0	37	1203	42	2	1506	2	ABCA7	19	1046243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1033	1046243	58082740	17562	25274											
ABCA7	10347	broad.mit.edu	37	chr19	1046403	1046403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccgtgctatgtggacgaCgtgtgagctctggcacccct	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1046403C>T	ENST00000263094.6	+	13	1851	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	ABCA7_ENST00000433129.1_Silent_p.D540D|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Silent_p.D402D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	540					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTGGACGACGTGTGAGCTC	0.701													False	0	False	19:1046403	0	T	1046403	C	T	1046403	2	4	88	1	0	0	0	0	0	0	0	1	37	535	19	1		1	ABCA7	19	1046403	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160	1046403	58082580	17563	25275											
HMHA1	23526	broad.mit.edu	37	chr19	1068512	1068512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccacagggaccctcaagCggcccaccagcctgagccgc	12	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1068512C>T	ENST00000313093.2	+	2	421	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	HMHA1_ENST00000539243.2_Missense_Mutation_p.R80W|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000586866.1_Missense_Mutation_p.R68W|HMHA1_ENST00000590214.1_Missense_Mutation_p.R91W	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	64					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCCTCAAGCGGCCCACCAG	0.731													False	0	False	19:1068512	0	T	1068512	C	T	1068512	3	4	88	1	0	0	0	0	1	0	0	0	7287	759	27	1	196	1	HMHA1	19	1068512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22109	1068512	58060471	17564	25276											
HMHA1	23526	broad.mit.edu	37	chr19	1073559	1073559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggagttcgagaaggcccTggagacgattgctgtggcct	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1073559T>C	ENST00000313093.2	+	4	851	c.620T>C	c.(619-621)cTg>cCg	p.L207P	HMHA1_ENST00000539243.2_Missense_Mutation_p.L223P|HMHA1_ENST00000536472.1_Missense_Mutation_p.L47P|HMHA1_ENST00000543365.1_Missense_Mutation_p.L90P|HMHA1_ENST00000586866.1_Missense_Mutation_p.L211P|HMHA1_ENST00000590214.1_Missense_Mutation_p.L234P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	207					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAGGCCCTGGAGACGATT	0.602													False	0	True	19:1073559	0	C	1073559	T	C	1073559	3	2	88	1	0	0	0	0	1	0	0	0	7287	1580	55	4	634	4	HMHA1	19	1073559	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5047	1073559	58055424	17565	25277											
HMHA1	23526	broad.mit.edu	37	chr19	1073969	1073969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggaaagcctgtatggacCgggcagtgagggcacgcctc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1073969C>T	ENST00000313093.2	+	6	977	c.746C>T	c.(745-747)cCg>cTg	p.P249L	HMHA1_ENST00000539243.2_Missense_Mutation_p.P265L|HMHA1_ENST00000536472.1_Missense_Mutation_p.P89L|HMHA1_ENST00000543365.1_Missense_Mutation_p.P132L|HMHA1_ENST00000586866.1_Missense_Mutation_p.P253L|HMHA1_ENST00000590214.1_Missense_Mutation_p.P276L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	249					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTATGGACCGGGCAGTGAG	0.677													False	0	True	19:1073969	0	T	1073969	C	T	1073969	3	4	88	1	0	0	0	0	1	0	0	0	7287	652	23	1	768	1	HMHA1	19	1073969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410	1073969	58055014	17566	25278											
HMHA1	23526	broad.mit.edu	37	chr19	1074171	1074171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgtggatgccgcactgCtgtatgccaagaacatggcc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1074171C>T	ENST00000313093.2	+	7	1090	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	HMHA1_ENST00000539243.2_Silent_p.L303L|HMHA1_ENST00000536472.1_Silent_p.L127L|HMHA1_ENST00000543365.1_Silent_p.L170L|HMHA1_ENST00000586866.1_Silent_p.L291L|HMHA1_ENST00000590214.1_Silent_p.L314L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	287					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGCACTGCTGTATGCCAA	0.652													False	0	False	19:1074171	0	T	1074171	C	T	1074171	2	4	88	1	0	0	0	0	0	0	0	1	7287	796	28	2		2	HMHA1	19	1074171	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202	1074171	58054812	17567	25279											
HMHA1	23526	broad.mit.edu	37	chr19	1080691	1080691	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcccgcccaggggactttaaGaagttcgagcggacgtcatc	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1080691G>A	ENST00000313093.2	+	16	2154	c.1923G>A	c.(1921-1923)aaG>aaA	p.K641K	HMHA1_ENST00000539243.2_Silent_p.K657K|HMHA1_ENST00000536472.1_Silent_p.K509K|HMHA1_ENST00000590577.1_Silent_p.K276K|HMHA1_ENST00000543365.1_Silent_p.K524K|HMHA1_ENST00000586866.1_Silent_p.K645K|HMHA1_ENST00000590214.1_Silent_p.K668K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	641					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGACTTTAAGAAGTTCGAGC	0.637													False	0	False	19:1080691	0	A	1080691	G	A	1080691	2	1	88	1	0	0	0	0	0	0	0	1	7287	933	33	2		2	HMHA1	19	1080691	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6520	1080691	58048292	17568	25280											
HMHA1	23526	broad.mit.edu	37	chr19	1081636	1081636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccgcctgcagctgttcGgccaggacttcagccacgcg	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1081636G>A	ENST00000313093.2	+	18	2509	c.2278G>A	c.(2278-2280)Ggc>Agc	p.G760S	HMHA1_ENST00000539243.2_Missense_Mutation_p.G776S|HMHA1_ENST00000536472.1_Missense_Mutation_p.G628S|HMHA1_ENST00000590577.1_Missense_Mutation_p.G395S|HMHA1_ENST00000543365.1_Missense_Mutation_p.G643S|HMHA1_ENST00000586866.1_Missense_Mutation_p.G764S|HMHA1_ENST00000590214.1_Missense_Mutation_p.G787S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	760					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTGTTCGGCCAGGACTT	0.677													False	0	False	19:1081636	0	A	1081636	G	A	1081636	3	1	88	1	0	0	0	0	1	0	0	0	7287	1116	39	1	2348	1	HMHA1	19	1081636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	945	1081636	58047347	17569	25281											
POLR2E	5434	broad.mit.edu	37	chr19	1089931	1089931	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccacagggtcccccgcctgGatcctgggcagctggttctc	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1089931G>A	ENST00000215587.7	-	6	802	c.519C>T	c.(517-519)atC>atT	p.I173I	POLR2E_ENST00000586746.1_Silent_p.I173I|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	173					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCGCCTGGATCCTGGGCA	0.662													False	0	False	19:1089931	0	A	1089931	G	A	1089931	2	1	88	1	0	0	0	0	0	0	0	1	12287	1164	41	2		2	POLR2E	19	1089931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8295	1089931	58039052	17570	25282											
POLR2E	5434	broad.mit.edu	37	chr19	1093977	1093977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgaggtccgtgcgccgcGgccgcccctcactcggcttg	15	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1093977G>A	ENST00000215587.7	-	2	441	c.158C>T	c.(157-159)cCg>cTg	p.P53L	POLR2E_ENST00000586746.1_Missense_Mutation_p.P53L			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	53					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGCGCCGCGGCCGCCCCTC	0.642													False	0	False	19:1093977	0	A	1093977	G	A	1093977	3	1	88	1	0	0	0	0	1	0	0	0	12287	1116	39	1	498	1	POLR2E	19	1093977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4046	1093977	58035006	17571	25283											
SBNO2	22904	broad.mit.edu	37	chr19	1109544	1109544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcataggggcccgtcagCgccagcgacttggcaaaggc	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1109544C>T	ENST00000361757.3	-	28	3414	c.3177G>A	c.(3175-3177)gcG>gcA	p.A1059A	SBNO2_ENST00000587024.1_Silent_p.A1049A|SBNO2_ENST00000438103.2_Silent_p.A1002A	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1059					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCGTCAGCGCCAGCGACT	0.731													False	0	False	19:1109544	0	T	1109544	C	T	1109544	2	4	88	1	0	0	0	0	0	0	0	1	13943	755	27	1		1	SBNO2	19	1109544	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15567	1109544	58019439	17572	25284											
SBNO2	22904	broad.mit.edu	37	chr19	1109688	1109688	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcttcctgctgaccttgtaGaagaccacctgcccgtcctg	10	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1109688G>T	ENST00000361757.3	-	27	3354	c.3117C>A	c.(3115-3117)ttC>ttA	p.F1039L	SBNO2_ENST00000587024.1_Missense_Mutation_p.F1029L|SBNO2_ENST00000438103.2_Missense_Mutation_p.F982L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1039					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCTTGTAGAAGACCACCT	0.682													False	0	False	19:1109688	0	T	1109688	G	T	1109688	3	4	88	1	0	0	0	0	1	0	0	0	13943	933	33	3	1007	3	SBNO2	19	1109688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144	1109688	58019295	17573	25285											
SBNO2	22904	broad.mit.edu	37	chr19	1112468	1112468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcacgcggcgccgctgGttctggacacggcggtcggc	17	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112468G>A	ENST00000361757.3	-	21	2685	c.2448C>T	c.(2446-2448)aaC>aaT	p.N816N	SBNO2_ENST00000587024.1_Silent_p.N806N|SBNO2_ENST00000438103.2_Silent_p.N759N	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	816					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCCGCTGGTTCTGGACAC	0.706													False	0	False	19:1112468	0	A	1112468	G	A	1112468	2	1	88	1	0	0	0	0	0	0	0	1	13943	1252	44	2		2	SBNO2	19	1112468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2780	1112468	58016515	17574	25286											
SBNO2	22904	broad.mit.edu	37	chr19	1112481	1112481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctggttctggacacggCggtcggcttggagggagaca	18	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112481C>T	ENST00000361757.3	-	21	2672	c.2435G>A	c.(2434-2436)cGc>cAc	p.R812H	SBNO2_ENST00000587024.1_Missense_Mutation_p.R802H|SBNO2_ENST00000438103.2_Missense_Mutation_p.R755H	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	812					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGACACGGCGGTCGGCTTG	0.706													False	0	False	19:1112481	0	T	1112481	C	T	1112481	3	4	88	1	0	0	0	0	1	0	0	0	13943	768	27	1	1713	1	SBNO2	19	1112481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	1112481	58016502	17575	25287											
SBNO2	22904	broad.mit.edu	37	chr19	1112516	1112516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagacacccgagctggaggcCtccgagatgatggccacgag	15	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112516C>A	ENST00000361757.3	-	21	2637	c.2400G>T	c.(2398-2400)gaG>gaT	p.E800D	SBNO2_ENST00000587024.1_Missense_Mutation_p.E790D|SBNO2_ENST00000438103.2_Missense_Mutation_p.E743D	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	800					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGAGGCCTCCGAGATGA	0.701													False	0	False	19:1112516	0	A	1112516	C	A	1112516	3	1	88	1	0	0	0	0	1	0	0	0	13943	680	24	3	1748	3	SBNO2	19	1112516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	1112516	58016467	17576	25288											
SBNO2	22904	broad.mit.edu	37	chr19	1119096	1119096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacgccggagaagctgaGctggcgtgcgatgtacatgc	17	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1119096G>T	ENST00000361757.3	-	14	1678	c.1441C>A	c.(1441-1443)Ctc>Atc	p.L481I	SBNO2_ENST00000587024.1_Missense_Mutation_p.L481I|SBNO2_ENST00000438103.2_Missense_Mutation_p.L424I	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	481					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAGCTGAGCTGGCGTGCG	0.672													False	0	True	19:1119096	0	T	1119096	G	T	1119096	3	4	88	1	0	0	0	0	1	0	0	0	13943	971	34	3	2735	3	SBNO2	19	1119096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6580	1119096	58009887	17577	25289											
STK11	6794	broad.mit.edu	37	chr19	1206967	1206967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacggagggcgagctgatgTcggtgggtatggacacgttc	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1206967T>C	ENST00000326873.7	+	1	1228	c.55T>C	c.(55-57)Tcg>Ccg	p.S19P	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	19					anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGCTGATGTCGGTGGGTAT	0.662		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			False	0	False	19:1206967	0	C	1206967	T	C	1206967	3	2	88	1	0	0	0	0	1	0	0	0	15369	1667	58	4	57	4	STK11	19	1206967	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87871	1206967	57922016	17578	25290											
C19orf26	255057	broad.mit.edu	37	chr19	1235045	1235045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctgctcaaacagcgccGcctcattgaaggagacccgg	12	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1235045G>A	ENST00000590083.1	-	5	702	c.410C>T	c.(409-411)gCg>gTg	p.A137V	C19orf26_ENST00000382477.2_Missense_Mutation_p.A131V|C19orf26_ENST00000215376.6_Missense_Mutation_p.A131V			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	131						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACAGCGCCGCCTCATTGAA	0.697										HNSCC(14;0.022)			False	0	False	19:1235045	0	A	1235045	G	A	1235045	3	1	88	1	0	0	0	0	1	0	0	0	1931	1087	38	1	971	1	C19orf26	19	1235045	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28078	1235045	57893938	17579	25291											
NDUFS7	374291	broad.mit.edu	37	chr19	1391124	1391124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcctctcttccaggtctacGaccagatgccggagccgcgc	11	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1391124G>A	ENST00000313408.7	+	6	438	c.415G>A	c.(415-417)Gac>Aac	p.D139N	NDUFS7_ENST00000546283.1_Missense_Mutation_p.D139N|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000233627.9_Missense_Mutation_p.D139N|NDUFS7_ENST00000539480.1_Missense_Mutation_p.D139N|NDUFS7_ENST00000414651.2_Missense_Mutation_p.D169N			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	139					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	CCAGGTCTACGACCAGATGCC	0.692													False	0	False	19:1391124	0	A	1391124	G	A	1391124	3	1	88	1	0	0	0	0	1	0	0	0	10365	1058	37	1	437	1	NDUFS7	19	1391124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156079	1391124	57737859	17580	25292											
APC2	10297	broad.mit.edu	37	chr19	1465269	1465269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacctgtcggcccgcagcGcccgtgaccaggagctgctg	15	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1465269G>A	ENST00000535453.1	+	14	3682	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	APC2_ENST00000238483.4_Missense_Mutation_p.A383T|APC2_ENST00000233607.2_Missense_Mutation_p.A657T|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	657					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCGCAGCGCCCGTGACCA	0.652													False	0	True	19:1465269	0	A	1465269	G	A	1465269	3	1	88	1	0	0	0	0	1	0	0	0	766	1087	38	1	2023	1	APC2	19	1465269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74145	1465269	57663714	17581	25293											
APC2	10297	broad.mit.edu	37	chr19	1466480	1466480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgcagaaactggcggcGcaagaggggccactctcgct	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1466480G>A	ENST00000535453.1	+	14	4893	c.3180G>A	c.(3178-3180)gcG>gcA	p.A1060A	APC2_ENST00000238483.4_Silent_p.A786A|APC2_ENST00000233607.2_Silent_p.A1060A|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1060	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACTGGCGGCGCAAGAGGGGC	0.687													False	0	False	19:1466480	0	A	1466480	G	A	1466480	2	1	88	1	0	0	0	0	0	0	0	1	766	1074	38	1		1	APC2	19	1466480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1211	1466480	57662503	17582	25294											
APC2	10297	broad.mit.edu	37	chr19	1466897	1466897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagccctagcgagctgccCgacagccccggacagaccat	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1466897C>T	ENST00000535453.1	+	14	5310	c.3597C>T	c.(3595-3597)ccC>ccT	p.P1199P	APC2_ENST00000238483.4_Silent_p.P925P|APC2_ENST00000233607.2_Silent_p.P1199P|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1199	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAGCTGCCCGACAGCCCCG	0.711													False	0	True	19:1466897	0	T	1466897	C	T	1466897	2	4	88	1	0	0	0	0	0	0	0	1	766	639	23	1		1	APC2	19	1466897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	417	1466897	57662086	17583	25295											
APC2	10297	broad.mit.edu	37	chr19	1467872	1467872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccggcggccgcgcccacGccaacccaccggcgcacatc	10	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1467872G>A	ENST00000535453.1	+	14	6285	c.4572G>A	c.(4570-4572)acG>acA	p.T1524T	APC2_ENST00000238483.4_Silent_p.T1250T|APC2_ENST00000233607.2_Silent_p.T1524T|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1524	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.|Pro-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCGCCCACGCCAACCCACC	0.721													False	0	False	19:1467872	0	A	1467872	G	A	1467872	2	1	88	1	0	0	0	0	0	0	0	1	766	1074	38	1		1	APC2	19	1467872	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	975	1467872	57661111	17584	25296											
APC2	10297	broad.mit.edu	37	chr19	1467886	1467886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacgccaacccaccggcGcacatcggccatccctcgcg	9	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1467886G>A	ENST00000535453.1	+	14	6299	c.4586G>A	c.(4585-4587)cGc>cAc	p.R1529H	APC2_ENST00000238483.4_Missense_Mutation_p.R1255H|APC2_ENST00000233607.2_Missense_Mutation_p.R1529H|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1529	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.|Pro-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCACCGGCGCACATCGGCC	0.736													False	0	False	19:1467886	0	A	1467886	G	A	1467886	3	1	88	1	0	0	0	0	1	0	0	0	766	1087	38	1	4640	1	APC2	19	1467886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	1467886	57661097	17585	25297											
PCSK4	54760	broad.mit.edu	37	chr19	1483417	1483417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagttgtggaggccggcGcaggccgatacgttttccct	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1483417G>A	ENST00000300954.5	-	12	1498	c.1437C>T	c.(1435-1437)tgC>tgT	p.C479C		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	479					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCCGGCGCAGGCCGATA	0.687													False	0	False	19:1483417	0	A	1483417	G	A	1483417	2	1	88	1	0	0	0	0	0	0	0	1	11670	1079	38	1		1	PCSK4	19	1483417	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15531	1483417	57645566	17586	25298											
PCSK4	54760	broad.mit.edu	37	chr19	1486949	1486949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcggccctgctgggtggtgCtgcccacggaaagcgtgtgg	18	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1486949C>A	ENST00000300954.5	-	8	1032	c.971G>T	c.(970-972)aGc>aTc	p.S324I		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	324	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGTGGTGCTGCCCACGGA	0.672													False	0	False	19:1486949	0	A	1486949	C	A	1486949	3	1	88	1	0	0	0	0	1	0	0	0	11670	797	28	3	1328	3	PCSK4	19	1486949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3532	1486949	57642034	17587	25299											
PCSK4	54760	broad.mit.edu	37	chr19	1487861	1487861	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatagctggccagggggtcCtgggggcaggtggggatatg	20	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1487861C>A	ENST00000300954.5	-	5	578		c.e5-1		PCSK4_ENST00000587784.1_Splice_Site	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4						proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGGGTCCTGGGGGCAGG	0.692													False	0	False	19:1487861	0	A	1487861	C	A	1487861	5	1	88	1	0	0	0	0	0	0	1	0	11670	695	24	3	1795	3	PCSK4	19	1487861	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	912	1487861	57641122	17588	25300											
PCSK4	54760	broad.mit.edu	37	chr19	1488000	1488000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtggtccttctcgatgCcatcgtccagcacagagacc	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1488000C>A	ENST00000300954.5	-	4	540	c.479G>T	c.(478-480)gGc>gTc	p.G160V	PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	160	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCGATGCCATCGTCCAG	0.677													False	0	False	19:1488000	0	A	1488000	C	A	1488000	3	1	88	1	0	0	0	0	1	0	0	0	11670	739	26	3	1836	3	PCSK4	19	1488000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139	1488000	57640983	17589	25301											
MBD3	53615	broad.mit.edu	37	chr19	1578415	1578415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcgtcgtcgtcctcaGcgcaggccttgtccagcggc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1578415G>A	ENST00000590550.2	-	5	1005	c.632C>T	c.(631-633)gCt>gTt	p.A211V	MBD3_ENST00000156825.1_Missense_Mutation_p.A267V|MBD3_ENST00000592012.1_Missense_Mutation_p.A235V|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000434436.3_Missense_Mutation_p.A267V			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	267					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		gtcgtcctcAGCGCAGGCCTT	0.716													False	0	False	19:1578415	0	A	1578415	G	A	1578415	3	1	88	1	0	0	0	0	1	0	0	0	9411	971	34	2	79	2	MBD3	19	1578415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90415	1578415	57550568	17590	25302											
TCF3	6929	broad.mit.edu	37	chr19	1615357	1615357	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcagtttggtctggggcttCtcgctgttgaggtgcagttg	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1615357C>A	ENST00000262965.5	-	18	2093	c.1749G>T	c.(1747-1749)gaG>gaT	p.E583D	TCF3_ENST00000395423.3_Missense_Mutation_p.E587D|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000588136.1_Intron	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	583	Helix-loop-helix motif.				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGGGGCTTCTCGCTGTTGA	0.642			T	"PBX1, HLF, TFPT"	pre B-ALL								False	0	False	19:1615357	0	A	1615357	C	A	1615357	3	1	88	1	0	0	0	0	1	0	0	0	15776	912	32	3	454	3	TCF3	19	1615357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36942	1615357	57513626	17591	25303											
TCF3	6929	broad.mit.edu	37	chr19	1615576	1615576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaggttgggggaagagCgtggggcccgccgacggcct	20	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1615576C>T	ENST00000395423.3	-	14	1569	c.1542G>A	c.(1540-1542)acG>acA	p.T514T	TCF3_ENST00000344749.5_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000588136.1_Intron			P15923	TFE2_HUMAN	transcription factor 3	533					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGAAGAGCGTGGGGCCCG	0.701			T	"PBX1, HLF, TFPT"	pre B-ALL								False	0	False	19:1615576	0	T	1615576	C	T	1615576	2	4	88	1	0	0	0	0	0	0	0	1	15776	783	27	1		1	TCF3	19	1615576	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	219	1615576	57513407	17592	25304											
TCF3	6929	broad.mit.edu	37	chr19	1625590	1625590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctaggctgccgtctgCcgctctccgccgggagctgc	12	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1625590C>T	ENST00000262965.5	-	7	828	c.484G>A	c.(484-486)Gca>Aca	p.A162T	TCF3_ENST00000395423.3_Missense_Mutation_p.A111T|TCF3_ENST00000344749.5_Missense_Mutation_p.A162T|TCF3_ENST00000453954.2_Missense_Mutation_p.A78T|TCF3_ENST00000588136.1_Missense_Mutation_p.A162T	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	162					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCGTCTGCCGCTCTCCGC	0.697			T	"PBX1, HLF, TFPT"	pre B-ALL								False	0	False	19:1625590	0	T	1625590	C	T	1625590	3	4	88	1	0	0	0	0	1	0	0	0	15776	739	26	2	1763	2	TCF3	19	1625590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10014	1625590	57503393	17593	25305											
ATP8B3	148229	broad.mit.edu	37	chr19	1785269	1785269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtcgccacgcacagggCggtccagtacttgatgataa	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1785269C>T	ENST00000539485.1	-	27	3684	c.3451G>A	c.(3451-3453)Gcc>Acc	p.A1151T	ATP8B3_ENST00000310127.6_Missense_Mutation_p.A1141T|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1104T			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1141					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCACAGGGCGGTCCAGTAC	0.602													False	0	True	19:1785269	0	T	1785269	C	T	1785269	3	4	88	1	0	0	0	0	1	0	0	0	1200	768	27	1	493	1	ATP8B3	19	1785269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159679	1785269	57343714	17594	25306											
ATP8B3	148229	broad.mit.edu	37	chr19	1796824	1796824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaggtgcagcagggccgCattgtggaagagcagcttcc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1796824C>T	ENST00000539485.1	-	16	1872	c.1639G>A	c.(1639-1641)Gcg>Acg	p.A547T	ATP8B3_ENST00000310127.6_Missense_Mutation_p.A547T|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A500T			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	547					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGGGCCGCATTGTGGAAG	0.706													False	0	False	19:1796824	0	T	1796824	C	T	1796824	3	4	88	1	0	0	0	0	1	0	0	0	1200	710	25	2	2349	2	ATP8B3	19	1796824	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11555	1796824	57332159	17595	25307											
ATP8B3	148229	broad.mit.edu	37	chr19	1805955	1805955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccagcaagagcatgtcGgcctggtgtggagtgggggg	20	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1805955G>A	ENST00000539485.1	-	9	986	c.753C>T	c.(751-753)gcC>gcT	p.A251A	ATP8B3_ENST00000310127.6_Silent_p.A251A|ATP8B3_ENST00000525591.1_Silent_p.A198A|ATP8B3_ENST00000526092.2_Silent_p.A198A			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	251					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCATGTCGGCCTGGTGTG	0.662													False	0	False	19:1805955	0	A	1805955	G	A	1805955	2	1	88	1	0	0	0	0	0	0	0	1	1200	1103	39	1		1	ATP8B3	19	1805955	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9131	1805955	57323028	17596	25308											
REXO1	57455	broad.mit.edu	37	chr19	1819095	1819095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaacctgccccccaacaCcacctcgtgggacacaaccc	7	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1819095C>T	ENST00000170168.4	-	8	2780	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	896						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCCAACACCACCTCGTGG	0.667													False	0	False	19:1819095	0	T	1819095	C	T	1819095	3	4	88	1	0	0	0	0	1	0	0	0	13320	507	18	2	1015	2	REXO1	19	1819095	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13140	1819095	57309888	17597	25309											
REXO1	57455	broad.mit.edu	37	chr19	1820033	1820033	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctggggctgcggtcataGgccaccttctcctcgttcag	12	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1820033G>T	ENST00000170168.4	-	7	2644	c.2550C>A	c.(2548-2550)gcC>gcA	p.A850A		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	850						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGGTCATAGGCCACCTTCT	0.682													False	0	False	19:1820033	0	T	1820033	G	T	1820033	2	4	88	1	0	0	0	0	0	0	0	1	13320	987	35	3		3	REXO1	19	1820033	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	938	1820033	57308950	17598	25310											
BTBD2	55643	broad.mit.edu	37	chr19	1986857	1986857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcacaggccgtgtagttgAcgttgggcagcacctccacc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1986857A>G	ENST00000255608.4	-	8	1404	c.1388T>C	c.(1387-1389)gTc>gCc	p.V463A		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	463						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGTAGTTGACGTTGGGCAG	0.662													False	0	False	19:1986857	0	G	1986857	A	G	1986857	3	3	88	1	0	0	0	0	1	0	0	0	1550	275	10	4	197	4	BTBD2	19	1986857	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	166824	1986857	57142126	17599	25311											
BTBD2	55643	broad.mit.edu	37	chr19	1990071	1990071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccttgcccagaaccttcCgcctgttctctggcgtcacc	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1990071C>T	ENST00000255608.4	-	5	936	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	AC005306.3_ENST00000588480.1_RNA|AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	307				R -> L (in Ref. 6; CAB96527).		cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAACCTTCCGCCTGTTCTC	0.637													False	0	False	19:1990071	0	T	1990071	C	T	1990071	3	4	88	1	0	0	0	0	1	0	0	0	1550	652	23	1	677	1	BTBD2	19	1990071	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3214	1990071	57138912	17600	25312											
MKNK2	2872	broad.mit.edu	37	chr19	2043157	2043157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacaccaggtagaagcgGtcctcctcctcgaagaactc	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2043157G>A	ENST00000250896.3	-	7	703	c.459C>T	c.(457-459)gaC>gaT	p.D153D	MKNK2_ENST00000591601.1_Silent_p.D153D|MKNK2_ENST00000541165.1_Silent_p.D22D|MKNK2_ENST00000309340.7_Silent_p.D153D	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	153	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTAGAAGCGGTCCTCCTCCT	0.627													False	0	True	19:2043157	0	A	2043157	G	A	2043157	2	1	88	1	0	0	0	0	0	0	0	1	9672	1252	44	2		2	MKNK2	19	2043157	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53086	2043157	57085826	17601	25313											
AP3D1	8943	broad.mit.edu	37	chr19	2116654	2116654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccggtgcttgggacgccGctgctcctcctcgtggaaga	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2116654G>A	ENST00000355272.6	-	17	2157	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	AP3D1_ENST00000356926.4_Missense_Mutation_p.R560W|AP3D1_ENST00000345016.5_Missense_Mutation_p.R651W|AP3D1_ENST00000350812.6_Missense_Mutation_p.R482W	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	651					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGGACGCCGCTGCTCCTCC	0.697													False	0	False	19:2116654	0	A	2116654	G	A	2116654	3	1	88	1	0	0	0	0	1	0	0	0	748	1086	38	1	1724	1	AP3D1	19	2116654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73497	2116654	57012329	17602	25314											
AP3D1	8943	broad.mit.edu	37	chr19	2121030	2121030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtccagcatttgggcggCgatgaggtggccgtgccgtg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2121030C>T	ENST00000355272.6	-	14	1518	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	AP3D1_ENST00000356926.4_Missense_Mutation_p.A347T|AP3D1_ENST00000345016.5_Missense_Mutation_p.A438T|AP3D1_ENST00000350812.6_Missense_Mutation_p.A269T	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	438					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTTGGGCGGCGATGAGGTGG	0.662													False	0	False	19:2121030	0	T	2121030	C	T	2121030	3	4	88	1	0	0	0	0	1	0	0	0	748	768	27	1	2375	1	AP3D1	19	2121030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4376	2121030	57007953	17603	25315											
AP3D1	8943	broad.mit.edu	37	chr19	2121812	2121812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcaggatgaggtccttgTgggactgcacggacttgggg	17	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2121812T>C	ENST00000355272.6	-	12	1228	c.1022A>G	c.(1021-1023)cAc>cGc	p.H341R	AP3D1_ENST00000356926.4_Missense_Mutation_p.H250R|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000345016.5_Missense_Mutation_p.H341R|AP3D1_ENST00000350812.6_Missense_Mutation_p.H172R	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	341					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGTCCTTGTGGGACTGCAC	0.637													False	0	True	19:2121812	0	C	2121812	T	C	2121812	3	2	88	1	0	0	0	0	1	0	0	0	748	1696	59	4	2673	4	AP3D1	19	2121812	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	782	2121812	57007171	17604	25316											
DOT1L	84444	broad.mit.edu	37	chr19	2220181	2220181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagattggtgctaatgcCcacggtgctgggagcagaag	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2220181C>T	ENST00000398665.3	+	23	2802	c.2766C>T	c.(2764-2766)gcC>gcT	p.A922A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	922						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCTAATGCCCACGGTGCTG	0.627													False	0	True	19:2220181	0	T	2220181	C	T	2220181	2	4	88	1	0	0	0	0	0	0	0	1	4739	610	22	2		2	DOT1L	19	2220181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98369	2220181	56908802	17605	25317											
DOT1L	84444	broad.mit.edu	37	chr19	2226809	2226809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaacctcttcatctctgCggcggccgtgcctcccggaa	9	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2226809C>T	ENST00000398665.3	+	27	4325	c.4289C>T	c.(4288-4290)gCg>gTg	p.A1430V		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1430						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCATCTCTGCGGCGGCCGTG	0.746													False	0	False	19:2226809	0	T	2226809	C	T	2226809	3	4	88	1	0	0	0	0	1	0	0	0	4739	768	27	1	4395	1	DOT1L	19	2226809	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6628	2226809	56902174	17606	25318											
DOT1L	84444	broad.mit.edu	37	chr19	2226885	2226885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccgcaggcggcgcggcGtcctccgcccagacgcaccg	13	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2226885G>A	ENST00000398665.3	+	27	4401	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1455						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCGCGGCGTCCTCCGCCC	0.756													False	0	True	19:2226885	0	A	2226885	G	A	2226885	2	1	88	1	0	0	0	0	0	0	0	1	4739	1132	40	1		1	DOT1L	19	2226885	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	2226885	56902098	17607	25319											
SF3A2	8175	broad.mit.edu	37	chr19	2247848	2247848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccccctggggtgaagcggcCtccacccccgctgatgaacg	12	18	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2247848C>A	ENST00000221494.5	+	9	1116	c.698C>A	c.(697-699)cCt>cAt	p.P233H		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa		Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAAGCGGCCTCCACCCCCG	0.677													False	0	False	19:2247848	0	A	2247848	C	A	2247848	3	1	88	1	0	0	0	0	1	0	0	0	14228	681	24	3	728	3	SF3A2	19	2247848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20963	2247848	56881135	17608	25320											
AMH	268	broad.mit.edu	37	chr19	2249555	2249555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctgcgggtggtgggggCtctaagcgcctatgagcagg	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2249555C>T	ENST00000221496.4	+	1	246	c.224C>T	c.(223-225)gCt>gTt	p.A75V		NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone						cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity			lung(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGTGGGGGCTCTAAGCGCC	0.701									Persistant Mullerian Duct Syndrome (type I and II)				False	0	True	19:2249555	0	T	2249555	C	T	2249555	3	4	88	1	0	0	0	0	1	0	0	0	572	797	28	2	226	2	AMH	19	2249555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1707	2249555	56879428	17609	25321											
JSRP1	126306	broad.mit.edu	37	chr19	2255205	2255205	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccagcgccacaagggtacCtgaagccctgtcctcctggg	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2255205C>A	ENST00000300961.6	-	2	173	c.109G>T	c.(109-111)Gcg>Tcg	p.A37S	JSRP1_ENST00000586471.2_Splice_Site_p.A37S	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1		Mediates interaction with CACNA1S (By similarity).					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAGGGTACCTGAAGCCCTG	0.652													False	0	False	19:2255205	0	A	2255205	C	A	2255205	5	1	88	1	0	0	0	0	0	0	1	0	8016	695	24	3	910	3	JSRP1	19	2255205	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5650	2255205	56873778	17610	25322											
C19orf35	374872	broad.mit.edu	37	chr19	2276371	2276371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcctctccagggcgcccCgggcagtgtgccttcaggca	14	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2276371C>T	ENST00000342063.3	-	4	823	c.730G>A	c.(730-732)Ggg>Agg	p.G244R		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	244										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCGCCCCGGGCAGTGTG	0.716													False	0	True	19:2276371	0	T	2276371	C	T	2276371	3	4	88	1	0	0	0	0	1	0	0	0	1935	652	23	1	695	1	C19orf35	19	2276371	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21166	2276371	56852612	17611	25323											
C19orf35	374872	broad.mit.edu	37	chr19	2280862	2280862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttaccaaggttgctataCgtgggctgagtcgaccaggt	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2280862C>T	ENST00000342063.3	-	2	162	c.69G>A	c.(67-69)acG>acA	p.T23T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	23										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTTGCTATACGTGGGCTGAG	0.697													False	0	False	19:2280862	0	T	2280862	C	T	2280862	2	4	88	1	0	0	0	0	0	0	0	1	1935	523	19	1		1	C19orf35	19	2280862	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4491	2280862	56848121	17612	25324											
LINGO3	645191	broad.mit.edu	37	chr19	2290688	2290688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttgcgacgctgcacgAtccacagcaggcgacagtcg	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2290688A>G	ENST00000585527.1	-	1	1335	c.1088T>C	c.(1087-1089)aTc>aCc	p.I363T	LINGO3_ENST00000404279.1_Missense_Mutation_p.I363T			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	363	LRRCT.					integral to membrane				lung(1)|urinary_tract(1)	2						ACGCTGCACGATCCACAGCAG	0.697													False	0	False	19:2290688	0	G	2290688	A	G	2290688	3	3	88	1	0	0	0	0	1	0	0	0	8869	333	12	4	694	4	LINGO3	19	2290688	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9826	2290688	56838295	17613	25325											
SPPL2B	56928	broad.mit.edu	37	chr19	2334702	2334702	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagtgggcccatcttccGcacgacctcagcaaggcagt	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2334702G>A	ENST00000452401.2	+	0	248							Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	p.P56P(1)					Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCATCTTCCGCACGACCTCA	0.677													False	0	False	19:2334702	0	A	2334702	G	A	2334702	1	1	88	0	1	0	0	0	0	0	0	0	15171	1074	38	1		1	SPPL2B	19	2334702	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44014	2334702	56794281	17614	25326											
TMPRSS9	360200	broad.mit.edu	37	chr19	2389901	2389901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggccaccagccttgtcGtcctcaccctgggagtcctt	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2389901G>A	ENST00000332578.3	+	1	118	c.118G>A	c.(118-120)Gtc>Atc	p.V40I		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	40					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCTTGTCGTCCTCACCCT	0.592													False	0	False	19:2389901	0	A	2389901	G	A	2389901	3	1	88	1	0	0	0	0	1	0	0	0	16335	1145	40	1	120	1	TMPRSS9	19	2389901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55199	2389901	56739082	17615	25327											
TMPRSS9	360200	broad.mit.edu	37	chr19	2399065	2399065	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagctgcactttctgctgCgacccctccagacgctgagc	9	17	1	2	rs146863718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2399065C>T	ENST00000332578.3	+	3	286	c.286C>T	c.(286-288)Cga>Tga	p.R96*		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	96					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTCTGCTGCGACCCCTCCA	0.642													False	0	False	19:2399065	0	T	2399065	C	T	2399065	4	4	88	1	0	0	0	0	0	1	0	0	16335	760	27	1	296	1	TMPRSS9	19	2399065	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9164	2399065	56729918	17616	25328											
TMPRSS9	360200	broad.mit.edu	37	chr19	2405479	2405479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcgagagaacaaggagCacttctgtggggccgccatc	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2405479C>T	ENST00000332578.3	+	6	676	c.676C>T	c.(676-678)Cac>Tac	p.H226Y		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	226	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACAAGGAGCACTTCTGTGG	0.617													False	0	False	19:2405479	0	T	2405479	C	T	2405479	3	4	88	1	0	0	0	0	1	0	0	0	16335	710	25	2	698	2	TMPRSS9	19	2405479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6414	2405479	56723504	17617	25329											
LMNB2	84823	broad.mit.edu	37	chr19	2435154	2435154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgctcgtgccgccgccGcgtctcccgcacctcctgcg	12	22	1	0	rs148936043		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2435154G>A	ENST00000325327.3	-	5	762	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	LMNB2_ENST00000582871.1_Missense_Mutation_p.R214W			Q03252	LMNB2_HUMAN	lamin B2	214	Linker 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGCCGCCGCGTCTCCCGC	0.682													False	0	True	19:2435154	0	A	2435154	G	A	2435154	3	1	88	1	0	0	0	0	1	0	0	0	8903	1086	38	1	1194	1	LMNB2	19	2435154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29675	2435154	56693829	17618	25330											
GNG7	2788	broad.mit.edu	37	chr19	2515062	2515062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccttaaaggggttctcCgaggcagggactccgaccag	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2515062C>T	ENST00000382159.3	-	5	362	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein), gamma 7	55					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGTTCTCCGAGGCAGGGA	0.498													False	0	False	19:2515062	0	T	2515062	C	T	2515062	2	4	88	1	0	0	0	0	0	0	0	1	6576	639	23	1		1	GNG7	19	2515062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79908	2515062	56613921	17619	25331											
DIRAS1	0	broad.mit.edu	37	chr19	2717235	2717235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgcatttgcccttgacGcggtctgtcctcttctgctt	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717235G>A	ENST00000323469.4	-	2	753	c.570C>T	c.(568-570)cgC>cgT	p.R190R	DIRAS1_ENST00000585334.1_Silent_p.R190R	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	190					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCTTGACGCGGTCTGTCC	0.667													False	0	False	19:2717235	0	A	2717235	G	A	2717235	2	1	88	1	0	0	0	0	0	0	0	1	4560	1074	38	1		1	DIRAS1	19	2717235	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202173	2717235	56411748	17620	25332											
DIRAS1	0	broad.mit.edu	37	chr19	2717474	2717474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcacggggatgtcctccaCgctgcccttgatctgcacga	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717474C>T	ENST00000323469.4	-	2	514	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	DIRAS1_ENST00000585334.1_Missense_Mutation_p.V111M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	111					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTCCTCCACGCTGCCCTTG	0.642													False	0	False	19:2717474	0	T	2717474	C	T	2717474	3	4	88	1	0	0	0	0	1	0	0	0	4560	536	19	1	269	1	DIRAS1	19	2717474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	2717474	56411509	17621	25333											
DIRAS1	0	broad.mit.edu	37	chr19	2717568	2717568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccaggatgaaggcgtgGcccttggagatggacaggcg	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717568G>A	ENST00000323469.4	-	2	420	c.237C>T	c.(235-237)ggC>ggT	p.G79G	DIRAS1_ENST00000585334.1_Silent_p.G79G	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	79					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.G79G(1)		kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGGCGTGGCCCTTGGAGA	0.622													False	0	True	19:2717568	0	A	2717568	G	A	2717568	2	1	88	1	0	0	0	0	0	0	0	1	4560	1190	42	2		2	DIRAS1	19	2717568	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	2717568	56411415	17622	25334											
DIRAS1	0	broad.mit.edu	37	chr19	2717589	2717589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttggagatggacaggcgCtgcatggccgggaactggtg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717589C>T	ENST00000323469.4	-	2	399	c.216G>A	c.(214-216)caG>caA	p.Q72Q	DIRAS1_ENST00000585334.1_Silent_p.Q72Q	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	72					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACAGGCGCTGCATGGCCG	0.627													False	0	False	19:2717589	0	T	2717589	C	T	2717589	2	4	88	1	0	0	0	0	0	0	0	1	4560	796	28	2		2	DIRAS1	19	2717589	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	2717589	56411394	17623	25335											
DIRAS1	0	broad.mit.edu	37	chr19	2717685	2717685	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgccggtaggtgtcctcGatggtggggatgtaggtgtc	17	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717685G>A	ENST00000323469.4	-	2	303	c.120C>T	c.(118-120)atC>atT	p.I40I	DIRAS1_ENST00000585334.1_Silent_p.I40I	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	40					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGTCCTCGATGGTGGGGA	0.657													False	0	False	19:2717685	0	A	2717685	G	A	2717685	2	1	88	1	0	0	0	0	0	0	0	1	4560	1048	37	1		1	DIRAS1	19	2717685	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96	2717685	56411298	17624	25336											
SGTA	6449	broad.mit.edu	37	chr19	2769007	2769007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggacgagaggcccccgtgCcggagctggtcatgcaggaa	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2769007C>T	ENST00000221566.2	-	2	221	c.60G>A	c.(58-60)cgG>cgA	p.R20R		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	20					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCCCGTGCCGGAGCTGGT	0.627													False	0	False	19:2769007	0	T	2769007	C	T	2769007	2	4	88	1	0	0	0	0	0	0	0	1	14306	726	26	2		2	SGTA	19	2769007	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51322	2769007	56359976	17625	25337											
THOP1	7064	broad.mit.edu	37	chr19	2790603	2790603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgagagcacgctcaaggcGctggccgatgtggaggtcac	15	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2790603G>A	ENST00000307741.6	+	2	404	c.201G>A	c.(199-201)gcG>gcA	p.A67A		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	67					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTCAAGGCGCTGGCCGATG	0.652													False	0	False	19:2790603	0	A	2790603	G	A	2790603	2	1	88	1	0	0	0	0	0	0	0	1	15953	1074	38	1		1	THOP1	19	2790603	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21596	2790603	56338380	17626	25338											
THOP1	7064	broad.mit.edu	37	chr19	2794884	2794884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgagcatgagggaggacGtgtaccagaggatcgtgtgg	18	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2794884G>A	ENST00000307741.6	+	3	555	c.352G>A	c.(352-354)Gtg>Atg	p.V118M		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	118					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGAGGACGTGTACCAGAG	0.617													False	0	False	19:2794884	0	A	2794884	G	A	2794884	3	1	88	1	0	0	0	0	1	0	0	0	15953	1145	40	1	362	1	THOP1	19	2794884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4281	2794884	56334099	17627	25339											
ZNF554	115196	broad.mit.edu	37	chr19	2834613	2834613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgagcgaactcacacgggCgagaacccctatgaatgtaa	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2834613C>T	ENST00000317243.5	+	5	1578	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACACGGGCGAGAACCCCT	0.547													False	0	True	19:2834613	0	T	2834613	C	T	2834613	2	4	88	1	0	0	0	0	0	0	0	1	18068	755	27	1		1	ZNF554	19	2834613	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39729	2834613	56294370	17628	25340											
ZNF555	148254	broad.mit.edu	37	chr19	2853592	2853592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagagaaactctataaatGcaagcagtgtgggaaagctt	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2853592G>A	ENST00000334241.4	+	4	1667	c.1529G>A	c.(1528-1530)tGc>tAc	p.C510Y	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.C509Y	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTATAAATGCAAGCAGTGT	0.413													False	0	False	19:2853592	0	A	2853592	G	A	2853592	3	1	88	1	0	0	0	0	1	0	0	0	18069	1319	46	2	1543	2	ZNF555	19	2853592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18979	2853592	56275391	17629	25341											
ZNF556	80032	broad.mit.edu	37	chr19	2876127	2876127	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaagccagtgggtctatttCtcagcaggatacttctggag	11	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2876127C>T	ENST00000586426.1	+	3	254	c.167C>T	c.(166-168)tCt>tTt	p.S56F	ZNF556_ENST00000307635.2_Missense_Mutation_p.S56F			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCTATTTCTCAGCAGGAT	0.368													False	0	True	19:2876127	0	T	2876127	C	T	2876127	3	4	88	1	0	0	0	0	1	0	0	0	18070	913	32	2	177	2	ZNF556	19	2876127	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22535	2876127	56252856	17630	25342											
TLE6	79816	broad.mit.edu	37	chr19	2987962	2987962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaggaacacaagttgggGtgtggtccaggtgagaccca	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2987962G>A	ENST00000246112.4	+	10	893	c.692G>A	c.(691-693)gGt>gAt	p.G231D	TLE6_ENST00000452088.1_Missense_Mutation_p.G108D|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	108					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAGTTGGGGTGTGGTCCAG	0.667													False	0	True	19:2987962	0	A	2987962	G	A	2987962	3	1	88	1	0	0	0	0	1	0	0	0	16024	1261	44	2	726	2	TLE6	19	2987962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111835	2987962	56141021	17631	25343											
TLE6	79816	broad.mit.edu	37	chr19	2993462	2993462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccacagcccccaggaggaCtgggtgctgctgggcatggc	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2993462C>A	ENST00000246112.4	+	15	1620	c.1419C>A	c.(1417-1419)gaC>gaA	p.D473E	TLE6_ENST00000452088.1_Missense_Mutation_p.D350E	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	350					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGAGGACTGGGTGCTGC	0.632													False	0	False	19:2993462	0	A	2993462	C	A	2993462	3	1	88	1	0	0	0	0	1	0	0	0	16024	564	20	3	1473	3	TLE6	19	2993462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5500	2993462	56135521	17632	25344											
TLE2	7089	broad.mit.edu	37	chr19	3006594	3006594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgccgcgggatgcccgCgcctaccagtgcatccgagg	16	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3006594C>T	ENST00000262953.6	-	15	1586	c.1324G>A	c.(1324-1326)Gcg>Acg	p.A442T	TLE2_ENST00000591529.1_Missense_Mutation_p.A456T|TLE2_ENST00000426948.2_Missense_Mutation_p.A456T|TLE2_ENST00000447365.2_Missense_Mutation_p.A109T|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Missense_Mutation_p.A320T|TLE2_ENST00000443826.3_Missense_Mutation_p.A320T|TLE2_ENST00000590536.1_Missense_Mutation_p.A443T	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	442					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGATGCCCGCGCCTACCAGT	0.682													False	0	False	19:3006594	0	T	3006594	C	T	3006594	3	4	88	1	0	0	0	0	1	0	0	0	16021	768	27	1	931	1	TLE2	19	3006594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13132	3006594	56122389	17633	25345											
TLE2	7089	broad.mit.edu	37	chr19	3008916	3008916	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagacggatgaccctcGgagatggggatgagactcaa	16	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3008916G>A	ENST00000262953.6	-	14	1463	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	TLE2_ENST00000591529.1_Nonsense_Mutation_p.R415*|TLE2_ENST00000426948.2_Nonsense_Mutation_p.R415*|TLE2_ENST00000447365.2_Nonsense_Mutation_p.R68*|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Nonsense_Mutation_p.R279*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.R279*|TLE2_ENST00000590536.1_Nonsense_Mutation_p.R402*	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	401					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGACCCTCGGAGATGGGGA	0.652													False	0	False	19:3008916	0	A	3008916	G	A	3008916	4	1	88	1	0	0	0	0	0	1	0	0	16021	1124	39	1	1058	1	TLE2	19	3008916	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2322	3008916	56120067	17634	25346											
TLE2	7089	broad.mit.edu	37	chr19	3011123	3011123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggcggggaggagtcacaGgatttggaggcaggagtgct	21	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3011123G>T	ENST00000447365.2	-	8	1125	c.35C>A	c.(34-36)cCt>cAt	p.P12H	TLE2_ENST00000591529.1_Silent_p.S317S|TLE2_ENST00000262953.6_Silent_p.S303S|TLE2_ENST00000426948.2_Silent_p.S317S|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Silent_p.S181S|TLE2_ENST00000443826.3_Silent_p.S181S|TLE2_ENST00000590536.1_Silent_p.S304S			Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	131	Gln-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGTCACAGGATTTGGAGG	0.642													False	0	False	19:3011123	0	T	3011123	G	T	3011123	3	4	88	1	0	0	0	0	1	0	0	0	16021	987	35	3	1358	3	TLE2	19	3011123	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2207	3011123	56117860	17635	25347											
GNA11	2767	broad.mit.edu	37	chr19	3119349	3119349	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggactacttccccgAgttcgatggtgcgccgggct	14	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3119349A>C	ENST00000078429.4	+	6	1123	c.881A>C	c.(880-882)gAg>gCg	p.E294A	GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	294					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TACTTCCCCGAGTTCGATGGT	0.637			Mis		uveal melanoma								False	0	False	19:3119349	0	C	3119349	A	C	3119349	3	2	88	1	0	0	0	0	1	0	0	0	6544	304	11	4	903	4	GNA11	19	3119349	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108226	3119349	56009634	17636	25348											
GNA11	2767	broad.mit.edu	37	chr19	3121121	3121121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacatccgcttcgtgttcGcggccgtgaaggacaccatc	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3121121G>A	ENST00000078429.4	+	7	1266	c.1024G>A	c.(1024-1026)Gcg>Acg	p.A342T	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	342					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CTTCGTGTTCGCGGCCGTGAA	0.597			Mis		uveal melanoma								False	0	False	19:3121121	0	A	3121121	G	A	3121121	3	1	88	1	0	0	0	0	1	0	0	0	6544	1087	38	1	1050	1	GNA11	19	3121121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1772	3121121	56007862	17637	25349											
GNA15	2769	broad.mit.edu	37	chr19	3151773	3151773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcaggacgtgctccgcaGccgcatgcccaccactggca	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3151773G>T	ENST00000262958.3	+	4	812	c.554G>T	c.(553-555)aGc>aTc	p.S185I	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	185					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GTGCTCCGCAGCCGCATGCCC	0.642													False	0	False	19:3151773	0	T	3151773	G	T	3151773	3	4	88	1	0	0	0	0	1	0	0	0	6548	971	34	3	568	3	GNA15	19	3151773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30652	3151773	55977210	17638	25350											
GNA15	2769	broad.mit.edu	37	chr19	3162989	3162989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggactcggtgctcgcccGctacctggacgagatcaacc	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3162989G>A	ENST00000262958.3	+	7	1355	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	366					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GTGCTCGCCCGCTACCTGGAC	0.667											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:3162989	0	A	3162989	G	A	3162989	3	1	88	1	0	0	0	0	1	0	0	0	6548	1087	38	1	1123	1	GNA15	19	3162989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11216	3162989	55965994	17639	25351											
S1PR4	8698	broad.mit.edu	37	chr19	3178948	3178948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggggccctgcgggggctgtCggtggccgccagctgcctgg	21	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3178948C>T	ENST00000246115.3	+	1	213	c.158C>T	c.(157-159)tCg>tTg	p.S53L	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	53					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CGGGGGCTGTCGGTGGCCGCC	0.711													False	0	False	19:3178948	0	T	3178948	C	T	3178948	3	4	88	1	0	0	0	0	1	0	0	0	13875	893	31	1	160	1	S1PR4	19	3178948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15959	3178948	55950035	17640	25352											
S1PR4	8698	broad.mit.edu	37	chr19	3179636	3179636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggctccaacctctgggcCcaggagtacctgcggggcat	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3179636C>T	ENST00000246115.3	+	1	901	c.846C>T	c.(844-846)gcC>gcT	p.A282A		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	282					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						ACCTCTGGGCCCAGGAGTACC	0.642													False	0	True	19:3179636	0	T	3179636	C	T	3179636	2	4	88	1	0	0	0	0	0	0	0	1	13875	610	22	2		2	S1PR4	19	3179636	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	688	3179636	55949347	17641	25353											
NCLN	56926	broad.mit.edu	37	chr19	3192496	3192496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcagtgctgaacacggaGgcgcgcacgatggcggcgga	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3192496G>A	ENST00000246117.4	+	2	644	c.213G>A	c.(211-213)gaG>gaA	p.E71E	NCLN_ENST00000590671.1_5'UTR	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	71					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAACACGGAGGCGCGCACGA	0.697													False	0	True	19:3192496	0	A	3192496	G	A	3192496	2	1	88	1	0	0	0	0	0	0	0	1	10295	991	35	2		2	NCLN	19	3192496	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12860	3192496	55936487	17642	25354											
CELF5	60680	broad.mit.edu	37	chr19	3281290	3281290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgggccagctgggcatcCtgacgccgtccctcacattg	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3281290C>A	ENST00000541430.2	+	6	733	c.697C>A	c.(697-699)Ctg>Atg	p.L233M	CELF5_ENST00000292672.2_Missense_Mutation_p.L233M	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	233					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCTGGGCATCCTGACGCCGTC	0.662													False	0	False	19:3281290	0	A	3281290	C	A	3281290	3	1	88	1	0	0	0	0	1	0	0	0	3242	680	24	3	719	3	CELF5	19	3281290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88794	3281290	55847693	17643	25355											
NFIC	4782	broad.mit.edu	37	chr19	3381920	3381920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggctgctggccaagctgCgcaaggacatccggcccgag	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3381920C>T	ENST00000589123.1	+	2	334	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	NFIC_ENST00000395111.3_Missense_Mutation_p.R72C|NFIC_ENST00000443272.2_Missense_Mutation_p.R81C|NFIC_ENST00000590282.1_Missense_Mutation_p.R81C|NFIC_ENST00000586919.1_Missense_Mutation_p.R72C|NFIC_ENST00000341919.3_Missense_Mutation_p.R81C|NFIC_ENST00000346156.5_Missense_Mutation_p.R72C	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	81					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGCCAAGCTGCGCAAGGACAT	0.672													False	0	False	19:3381920	0	T	3381920	C	T	3381920	3	4	88	1	0	0	0	0	1	0	0	0	10440	768	27	1	254	1	NFIC	19	3381920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100630	3381920	55747063	17644	25356											
NFIC	4782	broad.mit.edu	37	chr19	3452485	3452485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgtctccgcagggatcGcccggagcccacacccgtcc	10	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3452485G>A	ENST00000589123.1	+	8	1183	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	NFIC_ENST00000395111.3_Missense_Mutation_p.A355T|NFIC_ENST00000443272.2_Missense_Mutation_p.A364T|NFIC_ENST00000590282.1_Missense_Mutation_p.A364T|NFIC_ENST00000586919.1_Missense_Mutation_p.A331T|NFIC_ENST00000341919.3_Missense_Mutation_p.A364T|NFIC_ENST00000346156.5_Missense_Mutation_p.A331T	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	364					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CGCAGGGATCGCCCGGAGCCC	0.652													False	0	True	19:3452485	0	A	3452485	G	A	3452485	3	1	88	1	0	0	0	0	1	0	0	0	10440	1087	38	1	1127	1	NFIC	19	3452485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70565	3452485	55676498	17645	25357											
HMG20B	10362	broad.mit.edu	37	chr19	3576607	3576607	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccatcttcactgaagagttCttggaccaaaacaaaggtga	8	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3576607C>A	ENST00000333651.6	+	7	651	c.576C>A	c.(574-576)ttC>ttA	p.F192L		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	192					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAAGAGTTCTTGGACCAAA	0.572													False	0	False	19:3576607	0	A	3576607	C	A	3576607	3	1	88	1	0	0	0	0	1	0	0	0	7269	912	32	3	598	3	HMG20B	19	3576607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124122	3576607	55552376	17646	25358											
GIPC3	126326	broad.mit.edu	37	chr19	3586949	3586949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgggagctgcccaagtcCcagcccttcaccctgcgcct	9	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3586949C>T	ENST00000322315.5	+	3	594	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	183	PDZ.							p.Q184E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCAAGTCCCAGCCCTTCA	0.657											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:3586949	0	T	3586949	C	T	3586949	2	4	88	1	0	0	0	0	0	0	0	1	6439	610	22	2		2	GIPC3	19	3586949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10342	3586949	55542034	17647	25359											
TBXA2R	0	broad.mit.edu	37	chr19	3595695	3595695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccacttcctactgcagCccggagcgctgcgtgagctg	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3595695C>T	ENST00000589966.1	-	2	668	c.634G>A	c.(634-636)Gct>Act	p.A212T	TBXA2R_ENST00000375190.4_Silent_p.G341G|TBXA2R_ENST00000411851.3_Intron			P21731	TA2R_HUMAN	thromboxane A2 receptor	0					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCTACTGCAGCCCGGAGCGCT	0.701													False	0	True	19:3595695	0	T	3595695	C	T	3595695	3	4	88	1	0	0	0	0	1	0	0	0	15745	726	26	2	257	2	TBXA2R	19	3595695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8746	3595695	55533288	17648	25360											
TBXA2R	0	broad.mit.edu	37	chr19	3600484	3600484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccccctgccgcgcgcccGccagcacgctcagggccagc	11	22	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3600484G>A	ENST00000375190.4	-	2	542	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TBXA2R_ENST00000589966.1_Missense_Mutation_p.A50V|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A50V	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	50					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCGCGCGCCCGCCAGCACGCT	0.697													False	0	True	19:3600484	0	A	3600484	G	A	3600484	3	1	88	1	0	0	0	0	1	0	0	0	15745	1087	38	1	1135	1	TBXA2R	19	3600484	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4789	3600484	55528499	17649	25361											
PIP5K1C	23396	broad.mit.edu	37	chr19	3644083	3644083	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactctgccctctgcccctcAccttcgtcctccagcgtggg	8	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3644083A>G	ENST00000335312.3	-	12	1599		c.e12+1		PIP5K1C_ENST00000589578.1_Splice_Site|PIP5K1C_ENST00000539785.1_Splice_Site|PIP5K1C_ENST00000537021.1_Splice_Site	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma						axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCTGCCCCTCACCTTCGTCCT	0.711													False	0	False	19:3644083	0	G	3644083	A	G	3644083	5	3	88	1	0	0	0	0	0	0	1	0	12010	173	6	4	522	4	PIP5K1C	19	3644083	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43599	3644083	55484900	17650	25362											
TJP3	27134	broad.mit.edu	37	chr19	3730576	3730576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggccggcagccatgggcGtaggagcccaggtggtggct	19	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3730576G>A	ENST00000541714.2	+	5	947	c.485G>A	c.(484-486)cGt>cAt	p.R162H	TJP3_ENST00000589378.1_Missense_Mutation_p.R171H|TJP3_ENST00000382008.3_Missense_Mutation_p.R162H|TJP3_ENST00000262968.9_Missense_Mutation_p.R181H|TJP3_ENST00000587686.1_Missense_Mutation_p.R181H|TJP3_ENST00000539908.2_Missense_Mutation_p.R126H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	162						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCATGGGCGTAGGAGCCCA	0.711													False	0	False	19:3730576	0	A	3730576	G	A	3730576	3	1	88	1	0	0	0	0	1	0	0	0	16013	1145	40	1	556	1	TJP3	19	3730576	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86493	3730576	55398407	17651	25363											
TJP3	27134	broad.mit.edu	37	chr19	3735569	3735569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgttccccaccagggagaGtccccggcttcggcgggaaa	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3735569G>A	ENST00000541714.2	+	9	1454	c.992G>A	c.(991-993)aGt>aAt	p.S331N	TJP3_ENST00000589378.1_Missense_Mutation_p.S340N|TJP3_ENST00000382008.3_Missense_Mutation_p.S345N|TJP3_ENST00000262968.9_Missense_Mutation_p.S364N|TJP3_ENST00000587686.1_Missense_Mutation_p.S350N|TJP3_ENST00000539908.2_Missense_Mutation_p.S295N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	345						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGGGAGAGTCCCCGGCTT	0.552													False	0	False	19:3735569	0	A	3735569	G	A	3735569	3	1	88	1	0	0	0	0	1	0	0	0	16013	1029	36	2	1121	2	TJP3	19	3735569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4993	3735569	55393414	17652	25364											
TJP3	27134	broad.mit.edu	37	chr19	3744015	3744015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgactgctgagatgcctgAccagtttgaaatcgcaggtg	13	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3744015A>G	ENST00000541714.2	+	15	2384	c.1922A>G	c.(1921-1923)gAc>gGc	p.D641G	TJP3_ENST00000589378.1_Missense_Mutation_p.D650G|TJP3_ENST00000382008.3_Missense_Mutation_p.D655G|TJP3_ENST00000262968.9_Missense_Mutation_p.D674G|TJP3_ENST00000587686.1_Missense_Mutation_p.D660G|TJP3_ENST00000539908.2_Missense_Mutation_p.D605G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	655	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGATGCCTGACCAGTTTGAA	0.522													False	0	False	19:3744015	0	G	3744015	A	G	3744015	3	3	88	1	0	0	0	0	1	0	0	0	16013	275	10	4	2075	4	TJP3	19	3744015	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8446	3744015	55384968	17653	25365											
TJP3	27134	broad.mit.edu	37	chr19	3747908	3747908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgagacggacggcgagggCggcgcgtacacggatggcga	19	10	0	1	rs148869242		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3747908C>T	ENST00000541714.2	+	19	2901	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	TJP3_ENST00000589378.1_Silent_p.G822G|TJP3_ENST00000382008.3_Silent_p.G827G|TJP3_ENST00000262968.9_Silent_p.G846G|TJP3_ENST00000587686.1_Silent_p.G832G|TJP3_ENST00000539908.2_Silent_p.G777G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	827						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGCGAGGGCGGCGCGTACA	0.692													False	0	True	19:3747908	0	T	3747908	C	T	3747908	2	4	88	1	0	0	0	0	0	0	0	1	16013	755	27	1		1	TJP3	19	3747908	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3893	3747908	55381075	17654	25366											
APBA3	9546	broad.mit.edu	37	chr19	3753771	3753771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgctcacgtcctccgCgtagaatacgtggcagagca	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3753771C>T	ENST00000316757.3	-	6	1203	c.1003G>A	c.(1003-1005)Gcg>Acg	p.A335T		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	335	PID.				intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCCTCCGCGTAGAATACG	0.697													False	0	False	19:3753771	0	T	3753771	C	T	3753771	3	4	88	1	0	0	0	0	1	0	0	0	760	768	27	1	748	1	APBA3	19	3753771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5863	3753771	55375212	17655	25367											
MRPL54	116541	broad.mit.edu	37	chr19	3762792	3762792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttccggaagactcctgGcccgggattatgccaagaaa	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3762792G>A	ENST00000330133.4	+	1	131	c.94G>A	c.(94-96)Gcc>Acc	p.A32T		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	32						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACTCCTGGCCCGGGATTA	0.622													False	0	True	19:3762792	0	A	3762792	G	A	3762792	3	1	88	1	0	0	0	0	1	0	0	0	9885	1203	42	2	96	2	MRPL54	19	3762792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9021	3762792	55366191	17656	25368											
MATK	4145	broad.mit.edu	37	chr19	3783843	3783843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaggttgcagaagaacAcggcctcatcgattgtgagg	13	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3783843A>G	ENST00000310132.6	-	6	949	c.551T>C	c.(550-552)gTg>gCg	p.V184A	MATK_ENST00000395040.2_Missense_Mutation_p.V143A|MATK_ENST00000395045.2_Missense_Mutation_p.V185A|MATK_ENST00000585778.1_Missense_Mutation_p.V184A	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	184	SH2.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAAGAACACGGCCTCATC	0.667													False	0	False	19:3783843	0	G	3783843	A	G	3783843	3	3	88	1	0	0	0	0	1	0	0	0	9399	159	6	4	1008	4	MATK	19	3783843	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21051	3783843	55345140	17657	25369											
MATK	4145	broad.mit.edu	37	chr19	3784220	3784220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactggtgtggtgcttgacGcggtaccagctcttgttctg	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3784220G>A	ENST00000310132.6	-	5	662	c.264C>T	c.(262-264)cgC>cgT	p.R88R	MATK_ENST00000395040.2_Silent_p.R47R|MATK_ENST00000395045.2_Silent_p.R89R|MATK_ENST00000585778.1_Silent_p.R88R	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	88	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGCTTGACGCGGTACCAGC	0.692													False	0	False	19:3784220	0	A	3784220	G	A	3784220	2	1	88	1	0	0	0	0	0	0	0	1	9399	1074	38	1		1	MATK	19	3784220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	377	3784220	55344763	17658	25370											
ZFR2	23217	broad.mit.edu	37	chr19	3813948	3813948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacctcatactcatcctcGgtcaccatctgggaggggta	11	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3813948G>A	ENST00000262961.4	-	14	2122	c.2112C>T	c.(2110-2112)acC>acT	p.T704T		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	704						intracellular	nucleic acid binding|zinc ion binding	p.T704T(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ACTCATCCTCGGTCACCATCT	0.507													False	0	False	19:3813948	0	A	3813948	G	A	3813948	2	1	88	1	0	0	0	0	0	0	0	1	17743	1103	39	1		1	ZFR2	19	3813948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29728	3813948	55315035	17659	25371											
ATCAY	85300	broad.mit.edu	37	chr19	3909544	3909544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatgatcgtgtacctgaaCggtgccacgccccggcggag	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3909544C>T	ENST00000450849.2	+	7	1175	c.708C>T	c.(706-708)aaC>aaT	p.N236N	ATCAY_ENST00000600960.1_Silent_p.N236N|ATCAY_ENST00000398448.3_Silent_p.N242N|ATCAY_ENST00000301260.6_Silent_p.N236N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	236	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TGTACCTGAACGGTGCCACGC	0.607													False	0	False	19:3909544	0	T	3909544	C	T	3909544	2	4	88	1	0	0	0	0	0	0	0	1	1081	535	19	1		1	ATCAY	19	3909544	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95596	3909544	55219439	17660	25372											
ATCAY	85300	broad.mit.edu	37	chr19	3910849	3910849	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcgtccacccctcgtggttCattcggactgtgctggccat	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3910849C>T	ENST00000450849.2	+	8	1295	c.828C>T	c.(826-828)ttC>ttT	p.F276F	ATCAY_ENST00000600960.1_Silent_p.F276F|ATCAY_ENST00000398448.3_Silent_p.F282F|ATCAY_ENST00000301260.6_Silent_p.F276F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	276	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTCGTGGTTCATTCGGACTG	0.602													False	0	False	19:3910849	0	T	3910849	C	T	3910849	2	4	88	1	0	0	0	0	0	0	0	1	1081	825	29	2		2	ATCAY	19	3910849	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1305	3910849	55218134	17661	25373											
ATCAY	85300	broad.mit.edu	37	chr19	3917763	3917763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagaggaaagactgaaggCcaggagggagaggtgtgtgc	19	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3917763C>T	ENST00000450849.2	+	10	1456	c.989C>T	c.(988-990)gCc>gTc	p.A330V	ATCAY_ENST00000600960.1_Missense_Mutation_p.A330V|ATCAY_ENST00000398448.3_Missense_Mutation_p.A336V|ATCAY_ENST00000301260.6_Missense_Mutation_p.A330V	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	330					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AGACTGAAGGCCAGGAGGGAG	0.522													False	0	False	19:3917763	0	T	3917763	C	T	3917763	3	4	88	1	0	0	0	0	1	0	0	0	1081	739	26	2	1023	2	ATCAY	19	3917763	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6914	3917763	55211220	17662	25374											
EEF2	1938	broad.mit.edu	37	chr19	3977529	3977529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgatctggccccctccgCggtggatggcgtcggcgtgc	17	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3977529C>T	ENST00000309311.6	-	13	2235	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	716						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCCTCCGCGGTGGATGGC	0.672													False	0	False	19:3977529	0	T	3977529	C	T	3977529	3	4	88	1	0	0	0	0	1	0	0	0	4959	768	27	1	441	1	EEF2	19	3977529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59766	3977529	55151454	17663	25375											
EEF2	1938	broad.mit.edu	37	chr19	3981965	3981965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagatggggtccaggaTcagctggcagaaggtgcgtg	17	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3981965T>C	ENST00000309311.6	-	6	965	c.877A>G	c.(877-879)Atc>Gtc	p.I293V		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	293						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCCAGGATCAGCTGGCAG	0.647													False	0	False	19:3981965	0	C	3981965	T	C	3981965	3	2	88	1	0	0	0	0	1	0	0	0	4959	1435	50	4	1739	4	EEF2	19	3981965	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4436	3981965	55147018	17664	25376											
PIAS4	51588	broad.mit.edu	37	chr19	4028840	4028840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtcacctgggggaactaCggcaaggtgagtgcgtgccc	15	11	1	1	rs148838008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4028840C>T	ENST00000262971.2	+	6	910	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	265	PINIT.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGAACTACGGCAAGGTGA	0.687													False	0	False	19:4028840	0	T	4028840	C	T	4028840	2	4	88	1	0	0	0	0	0	0	0	1	11947	547	19	1		1	PIAS4	19	4028840	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46875	4028840	55100143	17665	25377											
PIAS4	51588	broad.mit.edu	37	chr19	4033503	4033503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtcttctacctgcagaTgaacgagaagaagcccacct	9	14	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4033503T>C	ENST00000262971.2	+	9	1182	c.1067T>C	c.(1066-1068)aTg>aCg	p.M356T		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	356					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TACCTGCAGATGAACGAGAAG	0.677													False	0	False	19:4033503	0	C	4033503	T	C	4033503	3	2	88	1	0	0	0	0	1	0	0	0	11947	1464	51	4	1101	4	PIAS4	19	4033503	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4663	4033503	55095480	17666	25378											
PIAS4	51588	broad.mit.edu	37	chr19	4037768	4037768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacagctcatcgtcctcGgaggatgaggaggaggagga	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4037768G>A	ENST00000262971.2	+	11	1543	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	476	Asp/Glu-rich (acidic).				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGTCCTCggaggatgagg	0.701													False	0	False	19:4037768	0	A	4037768	G	A	4037768	2	1	88	1	0	0	0	0	0	0	0	1	11947	1103	39	1		1	PIAS4	19	4037768	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4265	4037768	55091215	17667	25379											
MAP2K2	5605	broad.mit.edu	37	chr19	4099233	4099233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggggcctcggccgaggCgagatgctgtgaggctctcc	18	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4099233C>T	ENST00000262948.5	-	7	1138	c.885G>A	c.(883-885)tcG>tcA	p.S295S	MAP2K2_ENST00000394867.4_Silent_p.S198S	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	295	Pro-rich.|Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGCCGAGGCGAGATGCTGT	0.706													False	0	False	19:4099233	0	T	4099233	C	T	4099233	2	4	88	1	0	0	0	0	0	0	0	1	9304	755	27	1		1	MAP2K2	19	4099233	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61465	4099233	55029750	17668	25380											
CREB3L3	84699	broad.mit.edu	37	chr19	4153764	4153764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaatacggatttagctgCtggaaaggtgagccctacta	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4153764C>T	ENST00000078445.2	+	1	167	c.20C>T	c.(19-21)gCt>gTt	p.A7V	CREB3L3_ENST00000595923.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000252587.3_5'UTR|CREB3L3_ENST00000602257.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000602147.1_Missense_Mutation_p.A7V	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	7					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GATTTAGCTGCTGGAAAGGTG	0.612													False	0	False	19:4153764	0	T	4153764	C	T	4153764	3	4	88	1	0	0	0	0	1	0	0	0	3881	797	28	2	22	2	CREB3L3	19	4153764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54531	4153764	54975219	17669	25381											
ANKRD24	170961	broad.mit.edu	37	chr19	4199913	4199913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagaggctgctacaagcCgtggaaaacaacgatgcacc	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4199913C>T	ENST00000600132.1	+	4	441	c.165C>T	c.(163-165)gcC>gcT	p.A55A	ANKRD24_ENST00000318934.4_Silent_p.A55A|ANKRD24_ENST00000262970.5_Silent_p.A145A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	55										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGCTACAAGCCGTGGAAAACA	0.667													False	0	False	19:4199913	0	T	4199913	C	T	4199913	2	4	88	1	0	0	0	0	0	0	0	1	653	639	23	1		1	ANKRD24	19	4199913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46149	4199913	54929070	17670	25382											
ANKRD24	170961	broad.mit.edu	37	chr19	4202024	4202024	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttctttccttccccaggTtacaatgccctccacctggc	5	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4202024T>C	ENST00000600132.1	+	6	621	c.345T>C	c.(343-345)ggT>ggC	p.G115G	ANKRD24_ENST00000318934.4_Splice_Site_p.G115G|ANKRD24_ENST00000262970.5_Splice_Site_p.G205G	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	115										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CTTCCCCAGGTTACAATGCCC	0.512													False	0	False	19:4202024	0	C	4202024	T	C	4202024	5	2	88	1	0	0	0	0	0	0	1	0	653	1739	60	4	363	4	ANKRD24	19	4202024	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2111	4202024	54926959	17671	25383											
ANKRD24	170961	broad.mit.edu	37	chr19	4216663	4216663	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgaccagctacgcaggcaGcacgctgaggccctgcaggc	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4216663G>T	ENST00000600132.1	+	18	1782	c.1506G>T	c.(1504-1506)caG>caT	p.Q502H	ANKRD24_ENST00000318934.4_Missense_Mutation_p.Q502H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.Q592H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	502										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TACGCAGGCAGCACGCTGAGG	0.622													False	0	True	19:4216663	0	T	4216663	G	T	4216663	3	4	88	1	0	0	0	0	1	0	0	0	653	962	34	3	1572	3	ANKRD24	19	4216663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14639	4216663	54912320	17672	25384											
SHD	56961	broad.mit.edu	37	chr19	4283065	4283065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctagaacttcccggcagaGgggtgcagctctatgacacc	11	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4283065G>T	ENST00000543264.2	+	3	1881	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W	SHD_ENST00000599689.1_Missense_Mutation_p.G140W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	140										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCGGCAGAGGGGTGCAGCT	0.617													False	0	True	19:4283065	0	T	4283065	G	T	4283065	3	4	88	1	0	0	0	0	1	0	0	0	14356	1000	35	3	428	3	SHD	19	4283065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66402	4283065	54845918	17673	25385											
TMIGD2	126259	broad.mit.edu	37	chr19	4292780	4292780	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgggaaggaggttgaaTaaatgctctggcccctctgg	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4292780T>C	ENST00000301272.2	-	5	710	c.665A>G	c.(664-666)tAt>tGt	p.Y222C	TMIGD2_ENST00000600349.1_Missense_Mutation_p.Y50C|TMIGD2_ENST00000595645.1_Missense_Mutation_p.Y218C|TMIGD2_ENST00000600114.1_Missense_Mutation_p.Y102C	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	222						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGTTGAATAAATGCTCTG	0.672													False	0	True	19:4292780	0	C	4292780	T	C	4292780	3	2	88	1	0	0	0	0	1	0	0	0	16313	1406	49	4	187	4	TMIGD2	19	4292780	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9715	4292780	54836203	17674	25386											
STAP2	55620	broad.mit.edu	37	chr19	4325511	4325511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctagacgcaggtgacagCggcttggggccacctgtgca	16	11	0	2	rs145032917	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4325511C>T	ENST00000600324.1	-	10	928	c.861G>A	c.(859-861)ccG>ccA	p.P287P	STAP2_ENST00000594605.1_Silent_p.P287P|STAP2_ENST00000597593.1_5'UTR	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	287	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGTGACAGCGGCTTGGGGC	0.622													False	0	False	19:4325511	0	T	4325511	C	T	4325511	2	4	88	1	0	0	0	0	0	0	0	1	15335	755	27	1		1	STAP2	19	4325511	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32731	4325511	54803472	17675	25387											
SH3GL1	6455	broad.mit.edu	37	chr19	4400336	4400336	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcacctggctcgccttgtaGaactgcttcttcagccccgc	8	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4400336G>A	ENST00000269886.3	-	1	208	c.30C>T	c.(28-30)ttC>ttT	p.F10F	SH3GL1_ENST00000417295.2_Silent_p.F10F|SH3GL1_ENST00000598564.1_Silent_p.F10F	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	10	Membrane-binding amphipathic helix (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCGCCTTGTAGAACTGCTTCT	0.771			T	MLL	AL								False	0	False	19:4400336	0	A	4400336	G	A	4400336	2	1	88	1	0	0	0	0	0	0	0	1	14331	933	33	2		2	SH3GL1	19	4400336	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74825	4400336	54728647	17676	25388											
CHAF1A	10036	broad.mit.edu	37	chr19	4409479	4409479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggacagttggagtgaagCtgggggcatcctgttcaaag	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4409479C>T	ENST00000301280.5	+	3	784	c.683C>T	c.(682-684)gCt>gTt	p.A228V		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	228	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGTGAAGCTGGGGGCATC	0.592								Chromatin Structure					False	0	False	19:4409479	0	T	4409479	C	T	4409479	3	4	88	1	0	0	0	0	1	0	0	0	3334	797	28	2	693	2	CHAF1A	19	4409479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9143	4409479	54719504	17677	25389											
CHAF1A	10036	broad.mit.edu	37	chr19	4429469	4429469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcgtgggaagggcgacGgtgttcccgagaggaggaag	21	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4429469G>A	ENST00000301280.5	+	9	1740	c.1639G>A	c.(1639-1641)Ggt>Agt	p.G547S		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	547					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGGCGACGGTGTTCCCGA	0.572								Chromatin Structure					False	0	False	19:4429469	0	A	4429469	G	A	4429469	3	1	88	1	0	0	0	0	1	0	0	0	3334	1116	39	1	1673	1	CHAF1A	19	4429469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19990	4429469	54699514	17678	25390											
CHAF1A	10036	broad.mit.edu	37	chr19	4432089	4432089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcggctgacagagactgCgcaggcgatgacctgaaggt	17	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4432089C>T	ENST00000301280.5	+	12	2189	c.2088C>T	c.(2086-2088)tgC>tgT	p.C696C	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	696	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAGACTGCGCAGGCGATG	0.637								Chromatin Structure					False	0	False	19:4432089	0	T	4432089	C	T	4432089	2	4	88	1	0	0	0	0	0	0	0	1	3334	776	27	1		1	CHAF1A	19	4432089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2620	4432089	54696894	17679	25391											
CHAF1A	10036	broad.mit.edu	37	chr19	4432123	4432123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtactgcagcagttcGcagcctgcttcctggagacc	12	12	0	2	rs45499793	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4432123G>A	ENST00000301280.5	+	12	2223	c.2122G>A	c.(2122-2124)Gca>Aca	p.A708T	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	708	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCAGTTCGCAGCCTGCTT	0.657								Chromatin Structure					False	0	False	19:4432123	0	A	4432123	G	A	4432123	3	1	88	1	0	0	0	0	1	0	0	0	3334	1087	38	1	2168	1	CHAF1A	19	4432123	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	4432123	54696860	17680	25392											
CHAF1A	10036	broad.mit.edu	37	chr19	4433183	4433183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaccacaccggcagcccgCggagcccctccaccacctac	8	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4433183C>T	ENST00000301280.5	+	13	2421	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	774	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCAGCCCGCGGAGCCCCTC	0.662								Chromatin Structure					False	0	False	19:4433183	0	T	4433183	C	T	4433183	3	4	88	1	0	0	0	0	1	0	0	0	3334	759	27	1	2370	1	CHAF1A	19	4433183	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1060	4433183	54695800	17681	25393											
UBXN6	80700	broad.mit.edu	37	chr19	4454072	4454072	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggggctggctggttgggcttCtctttgtgggccttttccct	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4454072C>A	ENST00000301281.6	-	2	226	c.102G>T	c.(100-102)gaG>gaT	p.E34D	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	34						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GGTTGGGCTTCTCTTTGTGGG	0.647													False	0	False	19:4454072	0	A	4454072	C	A	4454072	3	1	88	1	0	0	0	0	1	0	0	0	17001	912	32	3	1263	3	UBXN6	19	4454072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20889	4454072	54674911	17682	25394											
UBXN6	80700	broad.mit.edu	37	chr19	4457633	4457633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacggactctttgagcttcTgaccgggtcccgcgctcttg	11	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4457633T>C	ENST00000301281.6	-	1	186	c.62A>G	c.(61-63)cAg>cGg	p.Q21R		NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	21						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGAGCTTCTGACCGGGTCC	0.692													False	0	False	19:4457633	0	C	4457633	T	C	4457633	3	2	88	1	0	0	0	0	1	0	0	0	17001	1580	55	4	1307	4	UBXN6	19	4457633	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3561	4457633	54671350	17683	25395											
PLIN4	729359	broad.mit.edu	37	chr19	4510584	4510584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagccccgtgtcctccctgcCtggggcggccccttgggtga	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4510584C>A	ENST00000301286.3	-	3	3345	c.3346G>T	c.(3346-3348)Ggc>Tgc	p.G1116C		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1116						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCTCCCTGCCTGGGGCGGCC	0.657													False	0	True	19:4510584	0	A	4510584	C	A	4510584	3	1	88	1	0	0	0	0	1	0	0	0	12161	681	24	3	743	3	PLIN4	19	4510584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52951	4510584	54618399	17684	25396											
PLIN4	729359	broad.mit.edu	37	chr19	4510724	4510724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaacggggcctcttgggggCtcagggcagtctgctcccca	15	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4510724C>A	ENST00000301286.3	-	3	3205	c.3206G>T	c.(3205-3207)aGc>aTc	p.S1069I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1069						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTCTTGGGGGCTCAGGGCAGT	0.642													False	0	True	19:4510724	0	A	4510724	C	A	4510724	3	1	88	1	0	0	0	0	1	0	0	0	12161	797	28	3	883	3	PLIN4	19	4510724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	4510724	54618259	17685	25397											
PLIN5	440503	broad.mit.edu	37	chr19	4523771	4523771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgccaggtcgggcaggggCtcgggtcgctccacaaggat	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4523771C>A	ENST00000381848.3	-	8	1241	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	387						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CGGGCAGGGGCTCGGGTCGCT	0.741													False	0	True	19:4523771	0	A	4523771	C	A	4523771	3	1	88	1	0	0	0	0	1	0	0	0	12162	796	28	3	234	3	PLIN5	19	4523771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13047	4523771	54605212	17686	25398											
PLIN5	440503	broad.mit.edu	37	chr19	4525690	4525690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagggtgtcctgggcacgGtgtttgctctgcctcagttt	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4525690G>A	ENST00000381848.3	-	6	755	c.675C>T	c.(673-675)caC>caT	p.H225H		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	225						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCTGGGCACGGTGTTTGCTCT	0.652													False	0	False	19:4525690	0	A	4525690	G	A	4525690	2	1	88	1	0	0	0	0	0	0	0	1	12162	1252	44	2		2	PLIN5	19	4525690	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1919	4525690	54603293	17687	25399											
LRG1	116844	broad.mit.edu	37	chr19	4538016	4538016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggcccagcacagcgcGtgtcattctgggaaaacatc	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4538016G>A	ENST00000306390.6	-	2	1440	c.980C>T	c.(979-981)aCg>aTg	p.T327M	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	327	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACAGCGCGTGTCATTCTG	0.592													False	0	False	19:4538016	0	A	4538016	G	A	4538016	3	1	88	1	0	0	0	0	1	0	0	0	9004	1145	40	1	67	1	LRG1	19	4538016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12326	4538016	54590967	17688	25400											
SEMA6B	10501	broad.mit.edu	37	chr19	4558383	4558383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctaagcggcggcggctcCtcaggaaagaggccgtgggc	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4558383C>T	ENST00000586582.1	-	2	397	c.87G>A	c.(85-87)gaG>gaA	p.E29E	SEMA6B_ENST00000301293.3_Silent_p.E29E|SEMA6B_ENST00000586965.1_Silent_p.E29E	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	29					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCGGCTCCTCAGGAAAGA	0.711											OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:4558383	0	T	4558383	C	T	4558383	2	4	88	1	0	0	0	0	0	0	0	1	14121	680	24	2		2	SEMA6B	19	4558383	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20367	4558383	54570600	17689	25401											
DPP9	91039	broad.mit.edu	37	chr19	4690947	4690947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcagagcaatctcttcCttaatggggcacttaaattc	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4690947C>A	ENST00000262960.9	-	14	1816	c.1539G>T	c.(1537-1539)aaG>aaT	p.K513N	DPP9_ENST00000594671.1_Missense_Mutation_p.K484N|DPP9_ENST00000598800.1_Missense_Mutation_p.K484N	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	484					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CAATCTCTTCCTTAATGGGGC	0.557													False	0	False	19:4690947	0	A	4690947	C	A	4690947	3	1	88	1	0	0	0	0	1	0	0	0	4763	680	24	3	1175	3	DPP9	19	4690947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132564	4690947	54438036	17690	25402											
FEM1A	55527	broad.mit.edu	37	chr19	4793050	4793050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttcctattacatccgttAcaggggtgccgtgtacgccg	10	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4793050A>G	ENST00000269856.3	+	1	1323	c.1184A>G	c.(1183-1185)tAc>tGc	p.Y395C	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	395					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TACATCCGTTACAGGGGTGCC	0.617													False	0	False	19:4793050	0	G	4793050	A	G	4793050	3	3	88	1	0	0	0	0	1	0	0	0	5849	391	14	4	1186	4	FEM1A	19	4793050	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	102103	4793050	54335933	17691	25403											
FEM1A	55527	broad.mit.edu	37	chr19	4793649	4793649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccagaacaactgcccgGccatcatgaatgccctgatc	8	16	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4793649G>A	ENST00000269856.3	+	1	1922	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	595					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CAACTGCCCGGCCATCATGAA	0.607													False	0	False	19:4793649	0	A	4793649	G	A	4793649	3	1	88	1	0	0	0	0	1	0	0	0	5849	1203	42	2	1785	2	FEM1A	19	4793649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	599	4793649	54335334	17692	25404											
TICAM1	148022	broad.mit.edu	37	chr19	4817507	4817507	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggtagttggtgctggtttCtggagctgcgggggtatcag	19	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4817507C>A	ENST00000248244.5	-	2	1112	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	295	Pro-rich.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTGCTGGTTTCTGGAGCTGCG	0.637													False	0	True	19:4817507	0	A	4817507	C	A	4817507	4	1	88	1	0	0	0	0	0	1	0	0	15974	922	32	3	1259	3	TICAM1	19	4817507	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23858	4817507	54311476	17693	25405											
PLIN3	10226	broad.mit.edu	37	chr19	4844705	4844705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgggcggctccttctcgGggccctggagctgcttctgg	16	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4844705G>A	ENST00000221957.4	-	7	1111	c.935C>T	c.(934-936)cCc>cTc	p.P312L	PLIN3_ENST00000592528.1_Missense_Mutation_p.P300L|PLIN3_ENST00000585479.1_Missense_Mutation_p.P312L	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	312					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CTCCTTCTCGGGGCCCTGGAG	0.597													False	0	True	19:4844705	0	A	4844705	G	A	4844705	3	1	88	1	0	0	0	0	1	0	0	0	12160	1232	43	2	377	2	PLIN3	19	4844705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27198	4844705	54284278	17694	25406											
PLIN3	10226	broad.mit.edu	37	chr19	4847718	4847718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccaggcttaggacctgCgacagctgcagcagagcctc	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4847718C>T	ENST00000221957.4	-	6	995	c.819G>A	c.(817-819)tcG>tcA	p.S273S	PLIN3_ENST00000592528.1_Silent_p.S261S|PLIN3_ENST00000585479.1_Silent_p.S273S	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	273					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TTAGGACCTGCGACAGCTGCA	0.657													False	0	False	19:4847718	0	T	4847718	C	T	4847718	2	4	88	1	0	0	0	0	0	0	0	1	12160	755	27	1		1	PLIN3	19	4847718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3013	4847718	54281265	17695	25407											
PLIN3	10226	broad.mit.edu	37	chr19	4847894	4847894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagccatccagggatgtggCgatgcgggctgcaaggaaaa	15	8	0	0	rs146856306	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4847894C>T	ENST00000221957.4	-	6	819	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	PLIN3_ENST00000592528.1_Missense_Mutation_p.A203T|PLIN3_ENST00000585479.1_Missense_Mutation_p.A215T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	215					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	AGGGATGTGGCGATGCGGGCT	0.597													False	0	False	19:4847894	0	T	4847894	C	T	4847894	3	4	88	1	0	0	0	0	1	0	0	0	12160	768	27	1	673	1	PLIN3	19	4847894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176	4847894	54281089	17696	25408											
PLIN3	10226	broad.mit.edu	37	chr19	4852162	4852162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacgccgccggtcactacgGactttgtcttgtccacgccg	12	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4852162G>A	ENST00000221957.4	-	5	676	c.500C>T	c.(499-501)tCc>tTc	p.S167F	PLIN3_ENST00000592528.1_Missense_Mutation_p.S155F|PLIN3_ENST00000585479.1_Missense_Mutation_p.S167F	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	167					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GGTCACTACGGACTTTGTCTT	0.657											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:4852162	0	A	4852162	G	A	4852162	3	1	88	1	0	0	0	0	1	0	0	0	12160	1174	41	2	820	2	PLIN3	19	4852162	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4268	4852162	54276821	17697	25409											
PLIN3	10226	broad.mit.edu	37	chr19	4859664	4859664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtccagccccctgtgggCgtattcgctggctgatgcaa	12	13	0	1	rs149231262		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4859664C>T	ENST00000221957.4	-	4	462	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PLIN3_ENST00000592528.1_Missense_Mutation_p.A96T|PLIN3_ENST00000585479.1_Missense_Mutation_p.A96T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	96					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CCCCTGTGGGCGTATTCGCTG	0.567													False	0	True	19:4859664	0	T	4859664	C	T	4859664	3	4	88	1	0	0	0	0	1	0	0	0	12160	768	27	1	1038	1	PLIN3	19	4859664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7502	4859664	54269319	17698	25410											
ARRDC5	645432	broad.mit.edu	37	chr19	4896825	4896825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgctggtgaaggtagaaGgaagcctgggaggtaagttg	17	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4896825G>A	ENST00000381781.2	-	2	358	c.359C>T	c.(358-360)cCt>cTt	p.P120L		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	120					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAAGGTAGAAGGAAGCCTGGG	0.448													False	0	True	19:4896825	0	A	4896825	G	A	4896825	3	1	88	1	0	0	0	0	1	0	0	0	990	1000	35	2	677	2	ARRDC5	19	4896825	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37161	4896825	54232158	17699	25411											
ARRDC5	645432	broad.mit.edu	37	chr19	4896836	4896836	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtagaaggaagcctgggAggtaagttgaaatggaagtc	16	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4896836A>G	ENST00000381781.2	-	2	347	c.348T>C	c.(346-348)ccT>ccC	p.P116P		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	116					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAAGCCTGGGAGGTAAGTTGA	0.443													False	0	True	19:4896836	0	G	4896836	A	G	4896836	2	3	88	1	0	0	0	0	0	0	0	1	990	291	11	4		4	ARRDC5	19	4896836	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11	4896836	54232147	17700	25412											
UHRF1	29128	broad.mit.edu	37	chr19	4950688	4950688	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgaggccaaggactggcGgtcggggaagccggtcaggg	21	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4950688G>A	ENST00000592666.1	+	0	2159							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R541Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		AAGGACTGGCGGTCGGGGAAG	0.607													False	0	False	19:4950688	0	A	4950688	G	A	4950688	1	1	88	0	1	0	0	0	0	0	0	0	17051	1116	39	1		1	UHRF1	19	4950688	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53852	4950688	54178295	17701	25413											
KDM4B	23030	broad.mit.edu	37	chr19	5047658	5047658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacagcatcaactacctgCactttggggagcctaagtcc	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5047658C>T	ENST00000159111.4	+	6	822	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	KDM4B_ENST00000536461.1_Missense_Mutation_p.H202Y|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.H202Y	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	202	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CAACTACCTGCACTTTGGGGA	0.632													False	0	False	19:5047658	0	T	5047658	C	T	5047658	3	4	88	1	0	0	0	0	1	0	0	0	8179	710	25	2	618	2	KDM4B	19	5047658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96970	5047658	54081325	17702	25414											
KDM4B	23030	broad.mit.edu	37	chr19	5077407	5077407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgggagctcgcagggctgcGacgccttcctgcggcataag	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5077407G>A	ENST00000159111.4	+	8	924	c.706G>A	c.(706-708)Gac>Aac	p.D236N	KDM4B_ENST00000536461.1_Missense_Mutation_p.D236N|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.D236N	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	236	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCAGGGCTGCGACGCCTTCCT	0.657													False	0	False	19:5077407	0	A	5077407	G	A	5077407	3	1	88	1	0	0	0	0	1	0	0	0	8179	1058	37	1	728	1	KDM4B	19	5077407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29749	5077407	54051576	17703	25415											
PTPRS	5802	broad.mit.edu	37	chr19	5208314	5208314	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttatgcacttggccaatgAagtcgatgaagccctccccc	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5208314A>G	ENST00000372412.4	-	36	5812	c.5579T>C	c.(5578-5580)tTc>tCc	p.F1860S	PTPRS_ENST00000588012.1_Missense_Mutation_p.F1821S|PTPRS_ENST00000357368.4_Missense_Mutation_p.F1859S|PTPRS_ENST00000262963.6_Missense_Mutation_p.F1839S|PTPRS_ENST00000587303.1_Missense_Mutation_p.F1859S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.F1821S|PTPRS_ENST00000353284.2_Missense_Mutation_p.F1412S|PTPRS_ENST00000592099.1_Missense_Mutation_p.F1412S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1859	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTGGCCAATGAAGTCGATGAA	0.592													False	0	False	19:5208314	0	G	5208314	A	G	5208314	3	3	88	1	0	0	0	0	1	0	0	0	12890	246	9	4	282	4	PTPRS	19	5208314	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	130907	5208314	53920669	17704	25416											
PTPRS	5802	broad.mit.edu	37	chr19	5212104	5212104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacggcctccagcagggcctCgtggatgaagctgtactggt	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5212104C>T	ENST00000372412.4	-	32	5163	c.4930G>A	c.(4930-4932)Gag>Aag	p.E1644K	PTPRS_ENST00000588012.1_Missense_Mutation_p.E1605K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1643K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1623K|PTPRS_ENST00000587303.1_Missense_Mutation_p.E1643K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1605K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1196K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1196K			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1643	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AGCAGGGCCTCGTGGATGAAG	0.607													False	0	False	19:5212104	0	T	5212104	C	T	5212104	3	4	88	1	0	0	0	0	1	0	0	0	12890	893	31	1	947	1	PTPRS	19	5212104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3790	5212104	53916879	17705	25417											
PTPRS	5802	broad.mit.edu	37	chr19	5222822	5222822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggccctgcagcgtgagcGcgttctccgcgcccggctca	13	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5222822G>A	ENST00000372412.4	-	18	3217	c.2984C>T	c.(2983-2985)gCg>gTg	p.A995V	PTPRS_ENST00000588012.1_Missense_Mutation_p.A972V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A994V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A990V|PTPRS_ENST00000587303.1_Missense_Mutation_p.A994V|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.A972V|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000592099.1_Intron			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	994	Fibronectin type-III 7.			L -> V (in Ref. 1; AAC50299).	cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CAGCGTGAGCGCGTTCTCCGC	0.731													False	0	False	19:5222822	0	A	5222822	G	A	5222822	3	1	88	1	0	0	0	0	1	0	0	0	12890	1087	38	1	2949	1	PTPRS	19	5222822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10718	5222822	53906161	17706	25418											
PTPRS	5802	broad.mit.edu	37	chr19	5244271	5244271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccgatggagttgacgGccgacacccagatctcgtac	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5244271G>A	ENST00000372412.4	-	11	1447	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V	PTPRS_ENST00000357368.4_Missense_Mutation_p.A404V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A400V|PTPRS_ENST00000587303.1_Missense_Mutation_p.A404V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A391V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A391V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A391V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.A391V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	404	Fibronectin type-III 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGAGTTGACGGCCGACACCCA	0.667													False	0	False	19:5244271	0	A	5244271	G	A	5244271	3	1	88	1	0	0	0	0	1	0	0	0	12890	1203	42	2	4747	2	PTPRS	19	5244271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21449	5244271	53884712	17707	25419											
PTPRS	5802	broad.mit.edu	37	chr19	5244425	5244425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggatctgggttgcccgagtCccacgtgatggtgatgctgg	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5244425C>T	ENST00000372412.4	-	11	1293	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	PTPRS_ENST00000357368.4_Missense_Mutation_p.D353N|PTPRS_ENST00000262963.6_Missense_Mutation_p.D349N|PTPRS_ENST00000587303.1_Missense_Mutation_p.D353N|PTPRS_ENST00000353284.2_Missense_Mutation_p.D340N|PTPRS_ENST00000348075.2_Missense_Mutation_p.D340N|PTPRS_ENST00000588012.1_Missense_Mutation_p.D340N|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.D340N			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	353	Fibronectin type-III 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTGCCCGAGTCCCACGTGATG	0.552													False	0	True	19:5244425	0	T	5244425	C	T	5244425	3	4	88	1	0	0	0	0	1	0	0	0	12890	855	30	2	4901	2	PTPRS	19	5244425	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154	5244425	53884558	17708	25420											
ZNRF4	148066	broad.mit.edu	37	chr19	5455699	5455699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctagcagcacacagacagCgaagcgggtgaccatggggt	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5455699C>T	ENST00000222033.4	+	1	274	c.197C>T	c.(196-198)gCg>gTg	p.A66V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	66						integral to membrane	zinc ion binding	p.A66V(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACACAGACAGCGAAGCGGGTG	0.697													False	0	True	19:5455699	0	T	5455699	C	T	5455699	3	4	88	1	0	0	0	0	1	0	0	0	18296	768	27	1	199	1	ZNRF4	19	5455699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211274	5455699	53673284	17709	25421											
ZNRF4	148066	broad.mit.edu	37	chr19	5456539	5456539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctcccaagccccccggcGctcctgccccgtgtgcaaac	9	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5456539G>A	ENST00000222033.4	+	1	1114	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	346						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCCCCCCGGCGCTCCTGCCCC	0.622													False	0	False	19:5456539	0	A	5456539	G	A	5456539	3	1	88	1	0	0	0	0	1	0	0	0	18296	1087	38	1	1039	1	ZNRF4	19	5456539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	840	5456539	53672444	17710	25422											
SAFB2	9667	broad.mit.edu	37	chr19	5592849	5592849	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaagtctgcacgatatcGgtcctccattgccacacgct	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5592849G>A	ENST00000252542.4	-	16	2521	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	753	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GCACGATATCGGTCCTCCATT	0.507													False	0	False	19:5592849	0	A	5592849	G	A	5592849	4	1	88	1	0	0	0	0	0	1	0	0	13886	1124	39	1	628	1	SAFB2	19	5592849	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136310	5592849	53536134	17711	25423											
SAFB	6294	broad.mit.edu	37	chr19	5641869	5641869	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtcgaagacgatgatgCtgataacctccaggagtccc	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5641869C>A	ENST00000292123.5	+	4	565	c.458C>A	c.(457-459)gCt>gAt	p.A153D	SAFB_ENST00000592224.1_Missense_Mutation_p.A153D|SAFB_ENST00000588852.1_Missense_Mutation_p.A153D|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000454510.1_Intron	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	153					chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GACGATGATGCTGATAACCTC	0.488													False	0	False	19:5641869	0	A	5641869	C	A	5641869	3	1	88	1	0	0	0	0	1	0	0	0	13885	797	28	3	472	3	SAFB	19	5641869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49020	5641869	53487114	17712	25424											
RPL36	25873	broad.mit.edu	37	chr19	5691599	5691599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgagcaacgtactggcCgccatgaggaaagctgctgc	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5691599C>T	ENST00000577222.1	+	6	829	c.285C>T	c.(283-285)gcC>gcT	p.A95A	RPL36_ENST00000394580.2_Silent_p.A95A|RPL36_ENST00000579649.1_Silent_p.A95A|RPL36_ENST00000347512.3_Silent_p.A95A|RPL36_ENST00000579446.1_3'UTR			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	95					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome			breast(1)|upper_aerodigestive_tract(1)	2						ACGTACTGGCCGCCATGAGGA	0.637											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:5691599	0	T	5691599	C	T	5691599	2	4	88	1	0	0	0	0	0	0	0	1	13665	639	23	1		1	RPL36	19	5691599	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49730	5691599	53437384	17713	25425											
LONP1	9361	broad.mit.edu	37	chr19	5693652	5693652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctctggcgaaggtgtaggCtatgcgggcgctctccttca	15	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5693652C>A	ENST00000360614.3	-	16	2606	c.2449G>T	c.(2449-2451)Gcc>Tcc	p.A817S	LONP1_ENST00000590729.1_Missense_Mutation_p.A687S|LONP1_ENST00000593119.1_Missense_Mutation_p.A753S|LONP1_ENST00000540670.2_Missense_Mutation_p.A621S|LONP1_ENST00000585374.1_Missense_Mutation_p.A703S	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	817					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGGTGTAGGCTATGCGGGCG	0.637													False	0	False	19:5693652	0	A	5693652	C	A	5693652	3	1	88	1	0	0	0	0	1	0	0	0	8954	797	28	3	442	3	LONP1	19	5693652	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2053	5693652	53435331	17714	25426											
LONP1	9361	broad.mit.edu	37	chr19	5694911	5694911	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctggggcaccaggtagCgctgcaagggcaaccgtcag	16	12	1	0	rs138134205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5694911C>T	ENST00000360614.3	-	14	2172	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	LONP1_ENST00000590729.1_Splice_Site_p.R542H|LONP1_ENST00000593119.1_Splice_Site_p.R608H|LONP1_ENST00000540670.2_Splice_Site_p.R476H|LONP1_ENST00000585374.1_Splice_Site_p.R558H	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	672					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACCAGGTAGCGCTGCAAGGG	0.637													False	0	False	19:5694911	0	T	5694911	C	T	5694911	5	4	88	1	0	0	0	0	0	0	1	0	8954	782	27	1	884	1	LONP1	19	5694911	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1259	5694911	53434072	17715	25427											
LONP1	9361	broad.mit.edu	37	chr19	5714234	5714234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgccgacataaggctgggCgagacgaactttccttctca	11	12	1	1	rs148374055	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5714234C>T	ENST00000360614.3	-	2	635	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	LONP1_ENST00000590729.1_Missense_Mutation_p.A46T|LONP1_ENST00000593119.1_Missense_Mutation_p.A96T|LONP1_ENST00000540670.2_5'UTR|LONP1_ENST00000585374.1_Missense_Mutation_p.A46T	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	160	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAAGGCTGGGCGAGACGAACT	0.438													False	0	True	19:5714234	0	T	5714234	C	T	5714234	3	4	88	1	0	0	0	0	1	0	0	0	8954	768	27	1	2469	1	LONP1	19	5714234	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19323	5714234	53414749	17716	25428											
PRR22	163154	broad.mit.edu	37	chr19	5784052	5784052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagaagcacccgcatgggGccatctggaaacctgtgggc	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5784052G>A	ENST00000419421.2	-	3	310	c.206C>T	c.(205-207)gCc>gTc	p.A69V	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	67										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CCCGCATGGGGCCATCTGGAA	0.667													False	0	True	19:5784052	0	A	5784052	G	A	5784052	3	1	88	1	0	0	0	0	1	0	0	0	12669	1203	42	2	1066	2	PRR22	19	5784052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69818	5784052	53344931	17717	25429											
DUS3L	56931	broad.mit.edu	37	chr19	5785800	5785800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacggcttgagcagggcgCcactgtgggacgggtgacga	18	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5785800C>T	ENST00000309061.7	-	11	1661	c.1565G>A	c.(1564-1566)gGc>gAc	p.G522D	DUS3L_ENST00000320699.8_Missense_Mutation_p.G280D	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	522					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGCAGGGCGCCACTGTGGGA	0.662													False	0	False	19:5785800	0	T	5785800	C	T	5785800	3	4	88	1	0	0	0	0	1	0	0	0	4837	739	26	2	399	2	DUS3L	19	5785800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1748	5785800	53343183	17718	25430											
DUS3L	56931	broad.mit.edu	37	chr19	5786851	5786851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctcccgagagcggccGtggagctgggggagaagccg	19	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5786851G>A	ENST00000309061.7	-	9	1491	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	DUS3L_ENST00000320699.8_Silent_p.H223H	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	465					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGAGCGGCCGTGGAGCTGGG	0.642													False	0	False	19:5786851	0	A	5786851	G	A	5786851	2	1	88	1	0	0	0	0	0	0	0	1	4837	1136	40	1		1	DUS3L	19	5786851	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1051	5786851	53342132	17719	25431											
DUS3L	56931	broad.mit.edu	37	chr19	5789522	5789522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacgggggctgggtcccgCgggccgccaactcctcctgc	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5789522C>T	ENST00000309061.7	-	3	692	c.596G>A	c.(595-597)cGc>cAc	p.R199H	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	199					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTGGGTCCCGCGGGCCGCCAA	0.716													False	0	True	19:5789522	0	T	5789522	C	T	5789522	3	4	88	1	0	0	0	0	1	0	0	0	4837	768	27	1	1400	1	DUS3L	19	5789522	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2671	5789522	53339461	17720	25432											
DUS3L	56931	broad.mit.edu	37	chr19	5790078	5790078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggattagggagggacacaGcctgttcttgtcgtagttcg	14	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5790078G>T	ENST00000309061.7	-	2	463	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	123					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGGGACACAGCCTGTTCTTG	0.612													False	0	False	19:5790078	0	T	5790078	G	T	5790078	3	4	88	1	0	0	0	0	1	0	0	0	4837	962	34	3	1633	3	DUS3L	19	5790078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	556	5790078	53338905	17721	25433											
FUT6	2528	broad.mit.edu	37	chr19	5832292	5832292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgtggatacaccttgCggtcggcagtgatgttgcag	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5832292C>T	ENST00000318336.4	-	3	1481	c.287G>A	c.(286-288)cGc>cAc	p.R96H	FUT6_ENST00000592563.1_Missense_Mutation_p.R96H|FUT6_ENST00000524754.1_Missense_Mutation_p.R96H|FUT6_ENST00000527106.1_Missense_Mutation_p.R96H|FUT6_ENST00000286955.5_Missense_Mutation_p.R96H	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	96					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ATACACCTTGCGGTCGGCAGT	0.627													False	0	False	19:5832292	0	T	5832292	C	T	5832292	3	4	88	1	0	0	0	0	1	0	0	0	6150	768	27	1	796	1	FUT6	19	5832292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42214	5832292	53296691	17722	25434											
FUT5	2527	broad.mit.edu	37	chr19	5867405	5867405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctgcctgtgggtacacaCtggagtcggcagtgatgttg	15	9	1	1	rs145858323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5867405C>T	ENST00000252675.5	-	5	894	c.332G>A	c.(331-333)aGt>aAt	p.S111N	FUT5_ENST00000588525.1_Missense_Mutation_p.S111N			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	111					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TGGGTACACACTGGAGTCGGC	0.652													False	0	True	19:5867405	0	T	5867405	C	T	5867405	3	4	88	1	0	0	0	0	1	0	0	0	6149	565	20	2	796	2	FUT5	19	5867405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35113	5867405	53261578	17723	25435											
NDUFA11	126328	broad.mit.edu	37	chr19	5896970	5896970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttcaaggaaggtgcccgGaggattgagtgtgactctgt	14	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5896970G>A	ENST00000418389.2	-	2	213	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	AC024592.12_ENST00000586349.1_Missense_Mutation_p.S44F|FUT5_ENST00000252675.5_5'UTR|NDUFA11_ENST00000308961.4_Missense_Mutation_p.P46S|NDUFA11_ENST00000592634.1_Missense_Mutation_p.P46S	NM_001193375.1	NP_001180304.1	Q86Y39	NDUAB_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	46					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I	protein transporter activity			central_nervous_system(1)|lung(1)	2					NADH(DB00157)	AAGGTGCCCGGAGGATTGAGT	0.627													False	0	False	19:5896970	0	A	5896970	G	A	5896970	3	1	88	1	0	0	0	0	1	0	0	0	10329	1174	41	2	301	2	NDUFA11	19	5896970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29565	5896970	53232013	17724	25436											
RANBP3	8498	broad.mit.edu	37	chr19	5928016	5928016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttctgcccaaatacaaagGcttgctgtgtggcggggtct	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5928016G>A	ENST00000340578.6	-	9	833	c.776C>T	c.(775-777)gCc>gTc	p.A259V	RANBP3_ENST00000439268.2_Missense_Mutation_p.A254V|RANBP3_ENST00000034275.8_Missense_Mutation_p.A191V|RANBP3_ENST00000541471.1_Missense_Mutation_p.A131V|RANBP3_ENST00000591092.1_Missense_Mutation_p.A186V	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	259					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						AAATACAAAGGCTTGCTGTGT	0.468													False	0	False	19:5928016	0	A	5928016	G	A	5928016	3	1	88	1	0	0	0	0	1	0	0	0	13108	1203	42	2	963	2	RANBP3	19	5928016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31046	5928016	53200967	17725	25437											
RFX2	5990	broad.mit.edu	37	chr19	6042117	6042117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacctgggcaggatacacGtgctgcaccggctgcacctg	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6042117G>A	ENST00000303657.5	-	4	347	c.198C>T	c.(196-198)caC>caT	p.H66H	RFX2_ENST00000359161.3_Silent_p.H66H|RFX2_ENST00000592546.1_Silent_p.H66H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CAGGATACACGTGCTGCACCG	0.597													False	0	False	19:6042117	0	A	6042117	G	A	6042117	2	1	88	1	0	0	0	0	0	0	0	1	13342	1136	40	1		1	RFX2	19	6042117	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114101	6042117	53086866	17726	25438											
ACSBG2	81616	broad.mit.edu	37	chr19	6156513	6156513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatcactcatgccaaagTgaacatcttgctggttgaga	9	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6156513T>C	ENST00000588304.1	+	5	754	c.308T>C	c.(307-309)gTg>gCg	p.V103A	ACSBG2_ENST00000252669.5_Missense_Mutation_p.V153A|ACSBG2_ENST00000588485.1_Intron|ACSBG2_ENST00000591403.1_Missense_Mutation_p.V153A|ACSBG2_ENST00000586696.1_Missense_Mutation_p.V153A			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	153					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATGCCAAAGTGAACATCTTG	0.468													False	0	False	19:6156513	0	C	6156513	T	C	6156513	3	2	88	1	0	0	0	0	1	0	0	0	174	1696	59	4	472	4	ACSBG2	19	6156513	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	114396	6156513	52972470	17727	25439											
ACSBG2	81616	broad.mit.edu	37	chr19	6185467	6185467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggcaagatcttgactgGgtgtaagaatatgctgttcc	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6185467G>A	ENST00000588304.1	+	11	1639	c.1193G>A	c.(1192-1194)gGg>gAg	p.G398E	ACSBG2_ENST00000252669.5_Missense_Mutation_p.G448E|ACSBG2_ENST00000588485.1_Missense_Mutation_p.G261E|ACSBG2_ENST00000591403.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000586696.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	448					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCTTGACTGGGTGTAAGAAT	0.527													False	0	True	19:6185467	0	A	6185467	G	A	6185467	3	1	88	1	0	0	0	0	1	0	0	0	174	1232	43	2	1381	2	ACSBG2	19	6185467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28954	6185467	52943516	17728	25440											
MLLT1	4298	broad.mit.edu	37	chr19	6213122	6213122	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtccagggagaagaggtcGaagtcgaaggtggtgttggt	18	5	0	2	rs143086360	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213122G>A	ENST00000252674.7	-	12	1774	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	537					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGAAGAGGTCGAAGTCGAAGG	0.637			T	MLL	AL								False	0	True	19:6213122	0	A	6213122	G	A	6213122	2	1	88	1	0	0	0	0	0	0	0	1	9692	1049	37	1		1	MLLT1	19	6213122	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27655	6213122	52915861	17729	25441											
MLLT1	4298	broad.mit.edu	37	chr19	6213356	6213356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggcgatacctgctgcaGcacgttgcgctcccgcagcg	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213356G>A	ENST00000252674.7	-	11	1706	c.1543C>T	c.(1543-1545)Ctg>Ttg	p.L515L	MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	515					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACCTGCTGCAGCACGTTGCGC	0.721			T	MLL	AL								False	0	False	19:6213356	0	A	6213356	G	A	6213356	2	1	88	1	0	0	0	0	0	0	0	1	9692	962	34	2		2	MLLT1	19	6213356	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234	6213356	52915627	17730	25442											
MLLT1	4298	broad.mit.edu	37	chr19	6213743	6213743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcccccccaccttgtcGtaggtgcccttcttgaggat	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213743G>A	ENST00000252674.7	-	10	1636	c.1473C>T	c.(1471-1473)taC>taT	p.Y491Y	MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	491					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CCACCTTGTCGTAGGTGCCCT	0.667			T	MLL	AL								False	0	False	19:6213743	0	A	6213743	G	A	6213743	2	1	88	1	0	0	0	0	0	0	0	1	9692	1140	40	1		1	MLLT1	19	6213743	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	387	6213743	52915240	17731	25443											
MLLT1	4298	broad.mit.edu	37	chr19	6222534	6222534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctccttgggcagccgGccctcgcccagcttccgcga	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6222534G>A	ENST00000252674.7	-	6	871	c.708C>T	c.(706-708)ggC>ggT	p.G236G		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	236					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TGGGCAGCCGGCCCTCGCCCA	0.642			T	MLL	AL								False	0	True	19:6222534	0	A	6222534	G	A	6222534	2	1	88	1	0	0	0	0	0	0	0	1	9692	1190	42	2		2	MLLT1	19	6222534	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8791	6222534	52906449	17732	25444											
MLLT1	4298	broad.mit.edu	37	chr19	6270647	6270647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaccttctccacgaagtGctggatgtcacattgctcgg	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6270647G>A	ENST00000252674.7	-	2	299	c.136C>T	c.(136-138)Cac>Tac	p.H46Y		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	46	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TCCACGAAGTGCTGGATGTCA	0.637			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:6270647	0	A	6270647	G	A	6270647	3	1	88	1	0	0	0	0	1	0	0	0	9692	1319	46	2	1587	2	MLLT1	19	6270647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48113	6270647	52858336	17733	25445											
ACER1	125981	broad.mit.edu	37	chr19	6309846	6309846	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcggatgaactgggacCtggggaggaaggggctcagc	19	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6309846C>A	ENST00000301452.4	-	4	428		c.e4-1			NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1							endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GAACTGGGACCTGGGGAGGAA	0.612													False	0	False	19:6309846	0	A	6309846	C	A	6309846	5	1	88	1	0	0	0	0	0	0	1	0	138	695	24	3	456	3	ACER1	19	6309846	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39199	6309846	52819137	17734	25446											
GTF2F1	2962	broad.mit.edu	37	chr19	6389591	6389591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcactgcccgcgcccgattCgggcatctcctcctcttggt	9	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6389591C>T	ENST00000394456.5	-	4	654	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Missense_Mutation_p.E36K	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	64					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCGCCCGATTCGGGCATCTCC	0.612													False	0	True	19:6389591	0	T	6389591	C	T	6389591	3	4	88	1	0	0	0	0	1	0	0	0	6905	893	31	1	1403	1	GTF2F1	19	6389591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79745	6389591	52739392	17735	25447											
SLC25A41	284427	broad.mit.edu	37	chr19	6426528	6426528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgctgggccaggatccGctggaggactccgcgcatgg	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6426528G>A	ENST00000321510.6	-	7	1053	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	329					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GCCAGGATCCGCTGGAGGACT	0.612													False	0	False	19:6426528	0	A	6426528	G	A	6426528	3	1	88	1	0	0	0	0	1	0	0	0	14586	1086	38	1	131	1	SLC25A41	19	6426528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36937	6426528	52702455	17736	25448											
SLC25A41	284427	broad.mit.edu	37	chr19	6427420	6427420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtagccgcggtaaagggcGcgggtgccctctcgctgcaa	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6427420G>A	ENST00000321510.6	-	5	785	c.717C>T	c.(715-717)cgC>cgT	p.R239R		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	239					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GGTAAAGGGCGCGGGTGCCCT	0.637													False	0	False	19:6427420	0	A	6427420	G	A	6427420	2	1	88	1	0	0	0	0	0	0	0	1	14586	1074	38	1		1	SLC25A41	19	6427420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	892	6427420	52701563	17737	25449											
DENND1C	79958	broad.mit.edu	37	chr19	6467822	6467822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagtggagagccagggaGtggggttttcctgggctgta	19	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6467822G>A	ENST00000381480.2	-	23	2211	c.2099C>T	c.(2098-2100)aCt>aTt	p.T700I	DENND1C_ENST00000543576.1_Missense_Mutation_p.T656I	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	700						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GAGCCAGGGAGTGGGGTTTTC	0.582													False	0	False	19:6467822	0	A	6467822	G	A	6467822	3	1	88	1	0	0	0	0	1	0	0	0	4458	1029	36	2	310	2	DENND1C	19	6467822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40402	6467822	52661161	17738	25450											
DENND1C	79958	broad.mit.edu	37	chr19	6479048	6479048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaaggtgaaatgctgcaCggcggggctggggggctccc	20	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6479048C>T	ENST00000381480.2	-	5	308	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.V22M	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	66	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.V66L(1)|p.V92L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AAATGCTGCACGGCGGGGCTG	0.632													False	0	False	19:6479048	0	T	6479048	C	T	6479048	3	4	88	1	0	0	0	0	1	0	0	0	4458	536	19	1	2285	1	DENND1C	19	6479048	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11226	6479048	52649935	17739	25451											
TNFSF9	8744	broad.mit.edu	37	chr19	6534897	6534897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccgaggctcggaactcGgccttcggtttccagggccg	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6534897G>A	ENST00000245817.3	+	3	623	c.585G>A	c.(583-585)tcG>tcA	p.S195S		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	195					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTCGGAACTCGGCCTTCGGTT	0.692													False	0	False	19:6534897	0	A	6534897	G	A	6534897	2	1	88	1	0	0	0	0	0	0	0	1	16394	1103	39	1		1	TNFSF9	19	6534897	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55849	6534897	52594086	17740	25452											
TNFSF14	0	broad.mit.edu	37	chr19	6665011	6665011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcatccagcacacggaCgaccaccttctccccagcct	7	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6665011C>T	ENST00000326176.9	-	5	922	c.541G>A	c.(541-543)Gtc>Atc	p.V181I	TNFSF14_ENST00000245912.3_Missense_Mutation_p.V181I|TNFSF14_ENST00000599359.1_Missense_Mutation_p.V217I	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	217					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AGCACACGGACGACCACCTTC	0.622													False	0	False	19:6665011	0	T	6665011	C	T	6665011	3	4	88	1	0	0	0	0	1	0	0	0	16389	536	19	1	77	1	TNFSF14	19	6665011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130114	6665011	52463972	17741	25453											
C3	718	broad.mit.edu	37	chr19	6684416	6684416	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacctggtacagatctcaagGatcatagtgttcttggcatc	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6684416G>T	ENST00000245907.6	-	33	4247	c.4155C>A	c.(4153-4155)atC>atA	p.I1385I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1385					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGATCTCAAGGATCATAGTGT	0.453													False	0	False	19:6684416	0	T	6684416	G	T	6684416	2	4	88	1	0	0	0	0	0	0	0	1	2220	1164	41	3		3	C3	19	6684416	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19405	6684416	52444567	17742	25454											
C3	718	broad.mit.edu	37	chr19	6684598	6684598	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggtgctggttttatggtgaCcttgaggtcgaatttattac	12	6	0	2	rs74722736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6684598C>A	ENST00000245907.6	-	32	4185	c.4093G>T	c.(4093-4095)Gtc>Ttc	p.V1365F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1365					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTTATGGTGACCTTGAGGTCG	0.478													False	0	False	19:6684598	0	A	6684598	C	A	6684598	3	1	88	1	0	0	0	0	1	0	0	0	2220	507	18	3	938	3	C3	19	6684598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182	6684598	52444385	17743	25455											
C3	718	broad.mit.edu	37	chr19	6686219	6686219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaagtcaaagtcttttagCtgcagtagggccaagagggc	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6686219C>T	ENST00000245907.6	-	29	3818	c.3726G>A	c.(3724-3726)caG>caA	p.Q1242Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1242					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGTCTTTTAGCTGCAGTAGGG	0.547													False	0	False	19:6686219	0	T	6686219	C	T	6686219	2	4	88	1	0	0	0	0	0	0	0	1	2220	796	28	2		2	C3	19	6686219	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1621	6686219	52442764	17744	25456											
C3	718	broad.mit.edu	37	chr19	6694466	6694466	+	Missense_Mutation	SNP	C	C	T													cttgatgagctccaaggcccCctgccgcttctctaggccga					rs146026441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6694466C>T	ENST00000245907.6	-	24	3222	c.3130G>A	c.(3130-3132)Ggg>Agg	p.G1044R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1044					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCAAGGCCCCCTGCCGCTTC	0.612													False	0	True	19:6694466	0	T	6694466	C	T	6694466	3	4	88	1	0	0	0	0	1	0	0	0	2220	623	22	2	1933	2	C3	19	6694466	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8247	6694466	52434517	17745	25457	267	2									
C3	718	broad.mit.edu	37	chr19	6694476	6694476	+	Missense_Mutation	SNP	C	C	A													tccaaggccccctgccgcttCtctaggccgaacttctccca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6694476C>A	ENST00000245907.6	-	24	3212	c.3120G>T	c.(3118-3120)gaG>gaT	p.E1040D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1040					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCTGCCGCTTCTCTAGGCCGA	0.622													False	0	False	19:6694476	0	A	6694476	C	A	6694476	3	1	88	1	0	0	0	0	1	0	0	0	2220	912	32	3	1943	3	C3	19	6694476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	6694476	52434507	17746	25458	267	2									
C3	718	broad.mit.edu	37	chr19	6696635	6696635	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttctggatccagggtgcgAacagccacagttttgttcat	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6696635A>C	ENST00000245907.6	-	22	2924	c.2832T>G	c.(2830-2832)gtT>gtG	p.V944V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	944					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCAGGGTGCGAACAGCCACAG	0.567													False	0	False	19:6696635	0	C	6696635	A	C	6696635	2	2	88	1	0	0	0	0	0	0	0	1	2220	233	9	4		4	C3	19	6696635	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2159	6696635	52432348	17747	25459											
C3	718	broad.mit.edu	37	chr19	6712565	6712565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtacttgggtgtcttgGtgaagtggatctggtaggga	17	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6712565G>A	ENST00000245907.6	-	10	1165	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	358					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGGTGTCTTGGTGAAGTGGAT	0.612													False	0	False	19:6712565	0	A	6712565	G	A	6712565	3	1	88	1	0	0	0	0	1	0	0	0	2220	1261	44	2	4046	2	C3	19	6712565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15930	6712565	52416418	17748	25460											
GPR108	56927	broad.mit.edu	37	chr19	6732321	6732321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttctccttatccgacaGgacgtacttgatgaaggccc	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6732321G>A	ENST00000264080.7	-	12	1104	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	GPR108_ENST00000430424.4_Silent_p.L118L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	360						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TTATCCGACAGGACGTACTTG	0.617													False	0	False	19:6732321	0	A	6732321	G	A	6732321	2	1	88	1	0	0	0	0	0	0	0	1	6670	991	35	2		2	GPR108	19	6732321	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19756	6732321	52396662	17749	25461											
GPR108	56927	broad.mit.edu	37	chr19	6733016	6733016	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acgctgtggaagaggagagaGatgctcttggtgaaggccaa	16	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6733016G>T	ENST00000264080.7	-	10	941	c.915C>A	c.(913-915)atC>atA	p.I305I	GPR108_ENST00000430424.4_Silent_p.I63I	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	305						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						AGAGGAGAGAGATGCTCTTGG	0.647													False	0	True	19:6733016	0	T	6733016	G	T	6733016	2	4	88	1	0	0	0	0	0	0	0	1	6670	932	33	3		3	GPR108	19	6733016	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	695	6733016	52395967	17750	25462											
GPR108	56927	broad.mit.edu	37	chr19	6733205	6733205	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgcagaggatggacacccaGaagatgccagcggccaggaa	14	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6733205G>T	ENST00000264080.7	-	9	857	c.831C>A	c.(829-831)ttC>ttA	p.F277L	GPR108_ENST00000430424.4_Missense_Mutation_p.F35L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	277						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TGGACACCCAGAAGATGCCAG	0.622													False	0	False	19:6733205	0	T	6733205	G	T	6733205	3	4	88	1	0	0	0	0	1	0	0	0	6670	933	33	3	840	3	GPR108	19	6733205	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189	6733205	52395778	17751	25463											
TRIP10	9322	broad.mit.edu	37	chr19	6751138	6751138	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcttatggaagaagacaaAggggacggctggacccgggt	16	7	1	2	rs3210156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6751138A>C	ENST00000600428.1	+	14	1876	c.1230A>C	c.(1228-1230)aaA>aaC	p.K410N	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313244.9_Missense_Mutation_p.K574N|TRIP10_ENST00000313285.8_Missense_Mutation_p.K518N|TRIP10_ENST00000596758.1_Missense_Mutation_p.K528T			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	574	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAGAAGACAAAGGGGACGGCT	0.617													False	0	True	19:6751138	0	C	6751138	A	C	6751138	3	2	88	1	0	0	0	0	1	0	0	0	16637	69	3	4	1608	4	TRIP10	19	6751138	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17933	6751138	52377845	17752	25464											
TRIP10	9322	broad.mit.edu	37	chr19	6751225	6751225	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgagtcacgctcaattgaacCctgccagagacgggaagagg	13	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6751225C>A	ENST00000596758.1	+	14	1670	c.1670C>A	c.(1669-1671)cCc>cAc	p.P557H	TRIP10_ENST00000600428.1_3'UTR|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313244.9_3'UTR|TRIP10_ENST00000313285.8_3'UTR			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	581	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G (By similarity).|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCAATTGAACCCTGCCAGAGA	0.637													False	0	True	19:6751225	0	A	6751225	C	A	6751225	3	1	88	1	0	0	0	0	1	0	0	0	16637	638	22	3		3	TRIP10	19	6751225	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87	6751225	52377758	17753	25465											
SH2D3A	10045	broad.mit.edu	37	chr19	6754363	6754363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaccagtcccctcagtgCggctgcgcgctcctccagcg	10	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6754363C>T	ENST00000245908.6	-	7	1440	c.1171G>A	c.(1171-1173)Gca>Aca	p.A391T	SH2D3A_ENST00000437152.3_Missense_Mutation_p.A269T	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	391					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CCCCTCAGTGCGGCTGCGCGC	0.751													False	0	False	19:6754363	0	T	6754363	C	T	6754363	3	4	88	1	0	0	0	0	1	0	0	0	14314	768	27	1	575	1	SH2D3A	19	6754363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3138	6754363	52374620	17754	25466											
SH2D3A	10045	broad.mit.edu	37	chr19	6754423	6754423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagcgccccggccagcgCcagtgtctgatgcctgcaga	13	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6754423C>T	ENST00000245908.6	-	7	1380	c.1111G>A	c.(1111-1113)Gcg>Acg	p.A371T	SH2D3A_ENST00000437152.3_Missense_Mutation_p.A249T	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	371					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CCGGCCAGCGCCAGTGTCTGA	0.706													False	0	False	19:6754423	0	T	6754423	C	T	6754423	3	4	88	1	0	0	0	0	1	0	0	0	14314	739	26	2	635	2	SH2D3A	19	6754423	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	6754423	52374560	17755	25467											
SH2D3A	10045	broad.mit.edu	37	chr19	6760689	6760689	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgggccatccatcagggtgtCctcgctaaagctgcgtcgca	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6760689C>A	ENST00000245908.6	-	3	648	c.379G>T	c.(379-381)Gac>Tac	p.D127Y	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	127					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						ATCAGGGTGTCCTCGCTAAAG	0.602													False	0	False	19:6760689	0	A	6760689	C	A	6760689	3	1	88	1	0	0	0	0	1	0	0	0	14314	855	30	3	1383	3	SH2D3A	19	6760689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6266	6760689	52368294	17756	25468											
VAV1	7409	broad.mit.edu	37	chr19	6820720	6820720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcctcacagttcctgtGccttaagaacattagaacct	6	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6820720G>A	ENST00000304076.2	+	2	306	c.212G>A	c.(211-213)tGc>tAc	p.C71Y	VAV1_ENST00000602142.1_Missense_Mutation_p.C71Y|VAV1_ENST00000539284.1_Missense_Mutation_p.C6Y|VAV1_ENST00000596764.1_Missense_Mutation_p.C71Y|VAV1_ENST00000599806.1_Missense_Mutation_p.C16Y	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	71	CH.|Leu-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGTTCCTGTGCCTTAAGAAC	0.557													False	0	False	19:6820720	0	A	6820720	G	A	6820720	3	1	88	1	0	0	0	0	1	0	0	0	17215	1319	46	2	218	2	VAV1	19	6820720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60031	6820720	52308263	17757	25469											
VAV1	7409	broad.mit.edu	37	chr19	6828154	6828154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgatggtgcctatgcagcGagttctcaaatatcacctcc	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6828154G>A	ENST00000304076.2	+	10	1089	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	VAV1_ENST00000602142.1_Missense_Mutation_p.R332Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R235Q|VAV1_ENST00000596764.1_Missense_Mutation_p.R300Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R277Q	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	332	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTATGCAGCGAGTTCTCAAA	0.552													False	0	False	19:6828154	0	A	6828154	G	A	6828154	3	1	88	1	0	0	0	0	1	0	0	0	17215	1058	37	1	1033	1	VAV1	19	6828154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7434	6828154	52300829	17758	25470											
VAV1	7409	broad.mit.edu	37	chr19	6828892	6828892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagatcacctcggtggaaCggcgctccaagatggacagg	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6828892C>T	ENST00000304076.2	+	13	1340	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	VAV1_ENST00000602142.1_Missense_Mutation_p.R416W|VAV1_ENST00000539284.1_Missense_Mutation_p.R319W|VAV1_ENST00000596764.1_Missense_Mutation_p.R384W|VAV1_ENST00000599806.1_Missense_Mutation_p.R361W	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	416	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTCGGTGGAACGGCGCTCCAA	0.612													False	0	False	19:6828892	0	T	6828892	C	T	6828892	3	4	88	1	0	0	0	0	1	0	0	0	17215	527	19	1	1296	1	VAV1	19	6828892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	738	6828892	52300091	17759	25471											
VAV1	7409	broad.mit.edu	37	chr19	6836997	6836997	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctcctgggtgtttaggGcagaaatacatctactaatg	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6836997G>A	ENST00000596764.1	+	20	1900	c.1820G>A	c.(1819-1821)gGc>gAc	p.G607D	VAV1_ENST00000602142.1_Splice_Site_p.G639D|VAV1_ENST00000539284.1_Splice_Site_p.G542D|VAV1_ENST00000304076.2_Intron|VAV1_ENST00000599806.1_Splice_Site_p.G584D	NM_001258207.1	NP_001245136.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	639					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGTGTTTAGGGCAGAAATACA	0.473													False	0	True	19:6836997	0	A	6836997	G	A	6836997	5	1	88	1	0	0	0	0	0	0	1	0	17215	1217	42	2	1998	2	VAV1	19	6836997	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8105	6836997	52291986	17760	25472											
VAV1	7409	broad.mit.edu	37	chr19	6848025	6848025	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcaggtacgcaggccccatgGagcgggcaggggcagagagc	19	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6848025G>T	ENST00000304076.2	+	22	2057	c.1963G>T	c.(1963-1965)Gag>Tag	p.E655*	VAV1_ENST00000602142.1_Nonsense_Mutation_p.E677*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.E580*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.E645*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.E622*	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	677	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGGCCCCATGGAGCGGGCAGG	0.602													False	0	False	19:6848025	0	T	6848025	G	T	6848025	4	4	88	1	0	0	0	0	0	1	0	0	17215	1175	41	3	2119	3	VAV1	19	6848025	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11028	6848025	52280958	17761	25473											
EMR1	2015	broad.mit.edu	37	chr19	6897456	6897456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatatcaatgagtgcctcAccagcagcgtctgccctgag	10	13	3	3	rs151147887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6897456A>G	ENST00000312053.4	+	5	449	c.412A>G	c.(412-414)Acc>Gcc	p.T138A	EMR1_ENST00000450315.3_Missense_Mutation_p.T138A|EMR1_ENST00000250572.8_Missense_Mutation_p.T138A|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381404.4_Missense_Mutation_p.T86A|EMR1_ENST00000381407.5_Intron	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	138	EGF-like 3; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGAGTGCCTCACCAGCAGCGT	0.478													False	0	False	19:6897456	0	G	6897456	A	G	6897456	3	3	88	1	0	0	0	0	1	0	0	0	5136	159	6	4	430	4	EMR1	19	6897456	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49431	6897456	52231527	17762	25474											
EMR1	2015	broad.mit.edu	37	chr19	6924844	6924844	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgtgtctcctcttggcgaaGactctcttcctcgccggtat	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6924844G>A	ENST00000312053.4	+	15	1984	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K	EMR1_ENST00000450315.3_Silent_p.K472K|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Silent_p.K597K|EMR1_ENST00000381407.5_Silent_p.K508K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	649					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCTTGGCGAAGACTCTCTTCC	0.582													False	0	False	19:6924844	0	A	6924844	G	A	6924844	2	1	88	1	0	0	0	0	0	0	0	1	5136	933	33	2		2	EMR1	19	6924844	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27388	6924844	52204139	17763	25475											
EMR1	2015	broad.mit.edu	37	chr19	6926385	6926385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccctccagatgggctgCgccatcatcgcgggcttcct	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6926385C>T	ENST00000312053.4	+	16	2032	c.1995C>T	c.(1993-1995)tgC>tgT	p.C665C	EMR1_ENST00000450315.3_Silent_p.C488C|EMR1_ENST00000250572.8_Silent_p.C600C|EMR1_ENST00000381404.4_Silent_p.C613C|EMR1_ENST00000381407.5_Silent_p.C524C	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	665					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGATGGGCTGCGCCATCATCG	0.532													False	0	False	19:6926385	0	T	6926385	C	T	6926385	2	4	88	1	0	0	0	0	0	0	0	1	5136	776	27	1		1	EMR1	19	6926385	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1541	6926385	52202598	17764	25476											
EMR1	2015	broad.mit.edu	37	chr19	6926546	6926546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgtgcctttggttatgGgctgccgatgctggtggtgg	16	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6926546G>A	ENST00000312053.4	+	16	2193	c.2156G>A	c.(2155-2157)gGg>gAg	p.G719E	EMR1_ENST00000450315.3_Missense_Mutation_p.G542E|EMR1_ENST00000250572.8_Missense_Mutation_p.G654E|EMR1_ENST00000381404.4_Missense_Mutation_p.G667E|EMR1_ENST00000381407.5_Missense_Mutation_p.G578E	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	719					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTTGGTTATGGGCTGCCGATG	0.512													False	0	True	19:6926546	0	A	6926546	G	A	6926546	3	1	88	1	0	0	0	0	1	0	0	0	5136	1232	43	2	2218	2	EMR1	19	6926546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	6926546	52202437	17765	25477											
ZNF557	79230	broad.mit.edu	37	chr19	7081411	7081411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgatctcccagctggaGcaagaagataaagtgatgac	12	8	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7081411G>A	ENST00000414706.1	+	6	761	c.288G>A	c.(286-288)gaG>gaA	p.E96E	ZNF557_ENST00000252840.6_Silent_p.E96E|ZNF557_ENST00000439035.2_Silent_p.E89E	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	89	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CCCAGCTGGAGCAAGAAGATA	0.493													False	0	False	19:7081411	0	A	7081411	G	A	7081411	2	1	88	1	0	0	0	0	0	0	0	1	18071	962	34	2		2	ZNF557	19	7081411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154865	7081411	52047572	17766	25478											
ZNF557	79230	broad.mit.edu	37	chr19	7083365	7083365	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcagtgtggaaaggctttCggcacgaggtcatctctttc	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7083365C>T	ENST00000414706.1	+	8	1376	c.903C>T	c.(901-903)ttC>ttT	p.F301F	ZNF557_ENST00000252840.6_Silent_p.F301F|ZNF557_ENST00000439035.2_Silent_p.F294F	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GAAAGGCTTTCGGCACGAGGT	0.483													False	0	True	19:7083365	0	T	7083365	C	T	7083365	2	4	88	1	0	0	0	0	0	0	0	1	18071	883	31	1		1	ZNF557	19	7083365	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1954	7083365	52045618	17767	25479											
ZNF557	79230	broad.mit.edu	37	chr19	7083484	7083484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgacacagcacataagaaCtcatactggagaaaaaccct	6	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7083484C>T	ENST00000414706.1	+	8	1495	c.1022C>T	c.(1021-1023)aCt>aTt	p.T341I	ZNF557_ENST00000252840.6_Missense_Mutation_p.T341I|ZNF557_ENST00000439035.2_Missense_Mutation_p.T334I	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CACATAAGAACTCATACTGGA	0.423													False	0	False	19:7083484	0	T	7083484	C	T	7083484	3	4	88	1	0	0	0	0	1	0	0	0	18071	565	20	2	1044	2	ZNF557	19	7083484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119	7083484	52045499	17768	25480											
INSR	0	broad.mit.edu	37	chr19	7117408	7117408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaattgccagcacatgcGcatgaggtcagtgctgcggg	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7117408G>A	ENST00000341500.5	-	21	3811	c.3772C>T	c.(3772-3774)Cgc>Tgc	p.R1258C	INSR_ENST00000302850.5_Missense_Mutation_p.R1270C	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1270	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCACATGCGCATGAGGTCA	0.607													False	0	False	19:7117408	0	A	7117408	G	A	7117408	3	1	88	1	0	0	0	0	1	0	0	0	7823	1087	38	1	344	1	INSR	19	7117408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33924	7117408	52011575	17769	25481											
INSR	0	broad.mit.edu	37	chr19	7142938	7142938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtgaagtgtcgcaagcCggagatgaccagcgactcct	13	13	0	3	rs35045353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7142938C>T	ENST00000341500.5	-	11	2434	c.2395G>A	c.(2395-2397)Ggc>Agc	p.G799S	INSR_ENST00000302850.5_Missense_Mutation_p.G811S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	811	Fibronectin type-III 2.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTCGCAAGCCGGAGATGACC	0.612													False	0	False	19:7142938	0	T	7142938	C	T	7142938	3	4	88	1	0	0	0	0	1	0	0	0	7823	652	23	1	1761	1	INSR	19	7142938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25530	7142938	51986045	17770	25482											
INSR	0	broad.mit.edu	37	chr19	7172365	7172365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaaagtgacaccagagCgtaggatcggcggattttta	14	6	0	2	rs144929085		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7172365C>T	ENST00000341500.5	-	5	1243	c.1204G>A	c.(1204-1206)Gct>Act	p.A402T	INSR_ENST00000302850.5_Missense_Mutation_p.A402T	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	402					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACACCAGAGCGTAGGATCGG	0.483													False	0	False	19:7172365	0	T	7172365	C	T	7172365	3	4	88	1	0	0	0	0	1	0	0	0	7823	768	27	1	3016	1	INSR	19	7172365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29427	7172365	51956618	17771	25483											
ARHGEF18	23370	broad.mit.edu	37	chr19	7506797	7506797	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacacctcgctcttccctcaGatccctacaccgcctcgctg	5	21	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7506797G>T	ENST00000359920.6	+	3	908		c.e3-1		ARHGEF18_ENST00000319670.9_Splice_Site|CTD-2207O23.3_ENST00000593531.1_Splice_Site	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18						actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TCTTCCCTCAGATCCCTACAC	0.617													False	0	False	19:7506797	0	T	7506797	G	T	7506797	5	4	88	1	0	0	0	0	0	0	1	0	903	956	33	3	665	3	ARHGEF18	19	7506797	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	334432	7506797	51622186	17772	25484											
ARHGEF18	23370	broad.mit.edu	37	chr19	7509198	7509198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcaaggccattggccGcctcttcccatgcgctgacg	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7509198G>A	ENST00000359920.6	+	4	1158	c.905G>A	c.(904-906)cGc>cAc	p.R302H	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R144H|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.A260T	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	302	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCCATTGGCCGCCTCTTCCCA	0.647													False	0	False	19:7509198	0	A	7509198	G	A	7509198	3	1	88	1	0	0	0	0	1	0	0	0	903	1087	38	1	919	1	ARHGEF18	19	7509198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2401	7509198	51619785	17773	25485											
ARHGEF18	23370	broad.mit.edu	37	chr19	7531999	7531999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccagctgctcctgaacCttcaggtacaggggcggggt	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7531999C>A	ENST00000359920.6	+	15	2693	c.2440C>A	c.(2440-2442)Ctt>Att	p.L814I	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.L656I|CTD-2207O23.3_ENST00000593531.1_Silent_p.T771T	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	814					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCTCCTGAACCTTCAGGTACA	0.677													False	0	False	19:7531999	0	A	7531999	C	A	7531999	3	1	88	1	0	0	0	0	1	0	0	0	903	681	24	3	2498	3	ARHGEF18	19	7531999	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22801	7531999	51596984	17774	25486											
C19orf45	374877	broad.mit.edu	37	chr19	7569075	7569075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaccaaagacagttccagGccctgccaggcccacctgcc	8	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7569075G>A	ENST00000361664.2	+	3	787	c.646G>A	c.(646-648)Gcc>Acc	p.A216T		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	216										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ACAGTTCCAGGCCCTGCCAGG	0.602													False	0	True	19:7569075	0	A	7569075	G	A	7569075	3	1	88	1	0	0	0	0	1	0	0	0	1943	1203	42	2	652	2	C19orf45	19	7569075	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37076	7569075	51559908	17775	25487											
ZNF358	140467	broad.mit.edu	37	chr19	7584405	7584405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accccatgtcttcgagtttcGacctcgatccagatgtgatt	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7584405G>A	ENST00000597229.1	+	2	447	c.277G>A	c.(277-279)Gac>Aac	p.D93N	ZNF358_ENST00000394341.2_Missense_Mutation_p.D93N|CTD-2207O23.12_ENST00000599312.1_3'UTR	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	93					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TTCGAGTTTCGACCTCGATCC	0.607													False	0	False	19:7584405	0	A	7584405	G	A	7584405	3	1	88	1	0	0	0	0	1	0	0	0	17950	1058	37	1	279	1	ZNF358	19	7584405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15330	7584405	51544578	17776	25488											
MCOLN1	57192	broad.mit.edu	37	chr19	7591439	7591439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggagcggatgacaccttcGcagcctacacgcgggagcag	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7591439G>A	ENST00000264079.6	+	3	477	c.352G>A	c.(352-354)Gca>Aca	p.A118T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	118					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGACACCTTCGCAGCCTACAC	0.632													False	0	False	19:7591439	0	A	7591439	G	A	7591439	3	1	88	1	0	0	0	0	1	0	0	0	9462	1087	38	1	362	1	MCOLN1	19	7591439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7034	7591439	51537544	17777	25489											
MCOLN1	57192	broad.mit.edu	37	chr19	7595239	7595239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggacgacatgtttgtgaCgttcgccgccatgcaggcgc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595239C>T	ENST00000264079.6	+	12	1552	c.1427C>T	c.(1426-1428)aCg>aTg	p.T476M		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	476					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGTTTGTGACGTTCGCCGCC	0.602													False	0	False	19:7595239	0	T	7595239	C	T	7595239	3	4	88	1	0	0	0	0	1	0	0	0	9462	536	19	1	1473	1	MCOLN1	19	7595239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3800	7595239	51533744	17778	25490											
MCOLN1	57192	broad.mit.edu	37	chr19	7595335	7595335	+	Missense_Mutation	SNP	T	T	C													catcagcctcttcatctacaTggtgctcagcctcttcatcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595335T>C	ENST00000264079.6	+	12	1648	c.1523T>C	c.(1522-1524)aTg>aCg	p.M508T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	508					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCATCTACATGGTGCTCAGC	0.627													False	0	False	19:7595335	0	C	7595335	T	C	7595335	3	2	88	1	0	0	0	0	1	0	0	0	9462	1464	51	4	1569	4	MCOLN1	19	7595335	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96	7595335	51533648	17779	25491	268	2									
MCOLN1	57192	broad.mit.edu	37	chr19	7595344	7595344	+	Missense_Mutation	SNP	G	G	A													cttcatctacatggtgctcaGcctcttcatcgcgctcatca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595344G>A	ENST00000264079.6	+	12	1657	c.1532G>A	c.(1531-1533)aGc>aAc	p.S511N		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	511					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGGTGCTCAGCCTCTTCATC	0.627													False	0	False	19:7595344	0	A	7595344	G	A	7595344	3	1	88	1	0	0	0	0	1	0	0	0	9462	971	34	2	1578	2	MCOLN1	19	7595344	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9	7595344	51533639	17780	25492	268	2									
PNPLA6	10908	broad.mit.edu	37	chr19	7606952	7606952	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgccaggggacatctcAggtttggagcactgggtctg	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7606952A>G	ENST00000221249.6	+	13	1565	c.1134A>G	c.(1132-1134)tcA>tcG	p.S378S	PNPLA6_ENST00000545201.2_Splice_Site_p.S378S|PNPLA6_ENST00000450331.3_Splice_Site_p.S378S|PNPLA6_ENST00000414982.3_Splice_Site_p.S426S|PNPLA6_ENST00000600737.1_Splice_Site_p.S417S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	417					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGGACATCTCAGGTTTGGAGC	0.602													False	0	False	19:7606952	0	G	7606952	A	G	7606952	5	3	88	1	0	0	0	0	0	0	1	0	12238	202	7	4	1320	4	PNPLA6	19	7606952	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11608	7606952	51522031	17781	25493											
PNPLA6	10908	broad.mit.edu	37	chr19	7615445	7615445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttacatcgtgctcaatggGcggctgcgtagcgtgatcca	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7615445G>A	ENST00000221249.6	+	19	2303	c.1872G>A	c.(1870-1872)ggG>ggA	p.G624G	PNPLA6_ENST00000545201.2_Silent_p.G598G|PNPLA6_ENST00000450331.3_Silent_p.G624G|PNPLA6_ENST00000414982.3_Silent_p.G672G|PNPLA6_ENST00000600737.1_Silent_p.G663G|PNPLA6_ENST00000594864.1_3'UTR	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	663					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGCTCAATGGGCGGCTGCGTA	0.687													False	0	True	19:7615445	0	A	7615445	G	A	7615445	2	1	88	1	0	0	0	0	0	0	0	1	12238	1190	42	2		2	PNPLA6	19	7615445	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8493	7615445	51513538	17782	25494											
PNPLA6	10908	broad.mit.edu	37	chr19	7619930	7619930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacctgcgctgtccgcgccGcctcttttcgcgccgcagcc	11	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7619930G>T	ENST00000221249.6	+	25	3103	c.2672G>T	c.(2671-2673)cGc>cTc	p.R891L	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R864L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R891L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R939L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R929L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	930					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTCCGCGCCGCCTCTTTTCG	0.726													False	0	False	19:7619930	0	T	7619930	G	T	7619930	3	4	88	1	0	0	0	0	1	0	0	0	12238	1087	38	3	2906	3	PNPLA6	19	7619930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4485	7619930	51509053	17783	25495											
XAB2	56949	broad.mit.edu	37	chr19	7687518	7687518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaccatcaaagtactcGgcccggcgggcaggcagcgc	13	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7687518G>A	ENST00000358368.4	-	11	1438	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	XAB2_ENST00000534844.1_Silent_p.A464A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	467				A -> V (in Ref. 2; AAF86951).	transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CAAAGTACTCGGCCCGGCGGG	0.672								Direct reversal of damage;Nucleotide excision repair (NER)					False	0	False	19:7687518	0	A	7687518	G	A	7687518	2	1	88	1	0	0	0	0	0	0	0	1	17502	1103	39	1		1	XAB2	19	7687518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67588	7687518	51441465	17784	25496											
XAB2	56949	broad.mit.edu	37	chr19	7687725	7687725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaccacacgcttgccaGgtcatccacctgcttgaagt	8	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7687725G>T	ENST00000358368.4	-	10	1331	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	XAB2_ENST00000534844.1_Missense_Mutation_p.L429M	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	432					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACGCTTGCCAGGTCATCCACC	0.647								Direct reversal of damage;Nucleotide excision repair (NER)					False	0	False	19:7687725	0	T	7687725	G	T	7687725	3	4	88	1	0	0	0	0	1	0	0	0	17502	991	35	3	1313	3	XAB2	19	7687725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	207	7687725	51441258	17785	25497											
XAB2	56949	broad.mit.edu	37	chr19	7693095	7693095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagcctgggcttcggggcGccctgtttgaactcgatgta	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7693095G>A	ENST00000358368.4	-	2	178	c.141C>T	c.(139-141)ggC>ggT	p.G47G	XAB2_ENST00000534844.1_Silent_p.G44G	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	47					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCTTCGGGGCGCCCTGTTTGA	0.612								Direct reversal of damage;Nucleotide excision repair (NER)					False	0	True	19:7693095	0	A	7693095	G	A	7693095	2	1	88	1	0	0	0	0	0	0	0	1	17502	1074	38	1		1	XAB2	19	7693095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5370	7693095	51435888	17786	25498											
STXBP2	6813	broad.mit.edu	37	chr19	7707143	7707143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccgggcagctgaccccGtgtccccactactgcatgag	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7707143G>A	ENST00000441779.2	+	9	788	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	STXBP2_ENST00000221283.5_Missense_Mutation_p.V240M|STXBP2_ENST00000414284.2_Missense_Mutation_p.V237M	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	240					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGACCCCGTGTCCCCACT	0.607													False	0	True	19:7707143	0	A	7707143	G	A	7707143	3	1	88	1	0	0	0	0	1	0	0	0	15435	1145	40	1	752	1	STXBP2	19	7707143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14048	7707143	51421840	17787	25499											
STXBP2	6813	broad.mit.edu	37	chr19	7707366	7707366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggccgtcttgctggaCgaggacgatgacttgtgggt	17	7	1	2	rs143108973	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7707366C>T	ENST00000441779.2	+	10	916	c.879C>T	c.(877-879)gaC>gaT	p.D293D	STXBP2_ENST00000221283.5_Silent_p.D282D|STXBP2_ENST00000414284.2_Silent_p.D279D	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	282					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCTTGCTGGACGAGGACGATG	0.662													False	0	True	19:7707366	0	T	7707366	C	T	7707366	2	4	88	1	0	0	0	0	0	0	0	1	15435	535	19	1		1	STXBP2	19	7707366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	223	7707366	51421617	17788	25500											
TRAPPC5	126003	broad.mit.edu	37	chr19	7747600	7747600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcggtgctcacacacaGcggcttccctgccaaggtca	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7747600G>A	ENST00000317378.5	+	2	648	c.461G>A	c.(460-462)aGc>aAc	p.S154N	CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000595985.1_Missense_Mutation_p.S87N|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.S154N|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.S154N	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	154					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding			NS(1)|lung(2)	3						CTCACACACAGCGGCTTCCCT	0.642													False	0	True	19:7747600	0	A	7747600	G	A	7747600	3	1	88	1	0	0	0	0	1	0	0	0	16545	971	34	2	463	2	TRAPPC5	19	7747600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40234	7747600	51381383	17789	25501											
CLEC4G	339390	broad.mit.edu	37	chr19	7796186	7796186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcgtggccgtcaagcagCgccgcgcgctccgtggaggc	17	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7796186C>T	ENST00000328853.5	-	3	254	c.186G>A	c.(184-186)gcG>gcA	p.A62A	CLEC4G_ENST00000598081.1_5'UTR	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	62						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CGTCAAGCAGCGCCGCGCGCT	0.726													False	0	False	19:7796186	0	T	7796186	C	T	7796186	2	4	88	1	0	0	0	0	0	0	0	1	3540	755	27	1		1	CLEC4G	19	7796186	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48586	7796186	51332797	17790	25502											
CD209	30835	broad.mit.edu	37	chr19	7810795	7810795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtagatctcctgcagCttagatttctctggaagctc	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7810795C>T	ENST00000315599.7	-	4	379	c.357G>A	c.(355-357)aaG>aaA	p.K119K	CD209_ENST00000593660.1_Silent_p.K95K|CD209_ENST00000601951.1_Silent_p.K95K|CD209_ENST00000593821.1_Silent_p.K75K|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Silent_p.K119K|CD209_ENST00000602261.1_Silent_p.K119K|CD209_ENST00000301357.8_Silent_p.K75K|CD209_ENST00000394161.5_Intron|CD209_ENST00000601256.1_Silent_p.K95K|CD209_ENST00000315591.8_Silent_p.K95K|CD209_ENST00000204801.8_Silent_p.K75K	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	119	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTCCTGCAGCTTAGATTTCT	0.562													False	0	False	19:7810795	0	T	7810795	C	T	7810795	2	4	88	1	0	0	0	0	0	0	0	1	3007	796	28	2		2	CD209	19	7810795	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14609	7810795	51318188	17791	25503											
CLEC4M	10332	broad.mit.edu	37	chr19	7830519	7830519	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagttccttttcttcttggCccagtgtccaaggtccccag	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7830519C>T	ENST00000359059.5	+	3	265	c.147C>T	c.(145-147)ggC>ggT	p.G49G	CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000595496.1_Silent_p.G49G|CLEC4M_ENST00000394122.2_Intron|CLEC4M_ENST00000596707.1_Silent_p.G49G|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000248228.4_Intron|CLEC4M_ENST00000327325.5_Intron	NM_001144906.1|NM_001144907.1	NP_001138378.1|NP_001138379.1	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	70					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TTCTTCTTGGCCCAGTGTCCA	0.502													False	0	True	19:7830519	0	T	7830519	C	T	7830519	2	4	88	1	0	0	0	0	0	0	0	1	3541	726	26	2		2	CLEC4M	19	7830519	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19724	7830519	51298464	17792	25504											
CLEC4M	10332	broad.mit.edu	37	chr19	7831659	7831659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgccaggaagtgagggCccagctcgtcgtaatcaaaa	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7831659C>T	ENST00000327325.5	+	5	1020	c.902C>T	c.(901-903)gCc>gTc	p.A301V	CLEC4M_ENST00000334806.5_Missense_Mutation_p.A250V|CLEC4M_ENST00000595496.1_Missense_Mutation_p.A165V|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A289V|CLEC4M_ENST00000596707.1_Missense_Mutation_p.A234V|CLEC4M_ENST00000597522.1_Missense_Mutation_p.A209V|CLEC4M_ENST00000359059.5_Missense_Mutation_p.A234V|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A301V|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A273V|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A279V	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	301	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GAAGTGAGGGCCCAGCTCGTC	0.592													False	0	True	19:7831659	0	T	7831659	C	T	7831659	3	4	88	1	0	0	0	0	1	0	0	0	3541	739	26	2	941	2	CLEC4M	19	7831659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1140	7831659	51297324	17793	25505											
LRRC8E	80131	broad.mit.edu	37	chr19	7963918	7963918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccctatccgaggtatccGgggagaaccagaagggccca	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7963918G>A	ENST00000306708.6	+	3	612	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	171						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGAGGTATCCGGGGAGAACCA	0.627													False	0	True	19:7963918	0	A	7963918	G	A	7963918	3	1	88	1	0	0	0	0	1	0	0	0	9087	1116	39	1	517	1	LRRC8E	19	7963918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132259	7963918	51165065	17794	25506											
MAP2K7	5609	broad.mit.edu	37	chr19	7974947	7974947	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctgctccatgtccccaGcattgagattgaccagaagc	9	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7974947G>A	ENST00000545011.1	+	3	331		c.e3-1		MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000397981.3_Splice_Site|MAP2K7_ENST00000397979.3_Splice_Site			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7						activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CATGTCCCCAGCATTGAGATT	0.622													False	0	False	19:7974947	0	A	7974947	G	A	7974947	5	1	88	1	0	0	0	0	0	0	1	0	9309	985	34	2	276	2	MAP2K7	19	7974947	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11029	7974947	51154036	17795	25507											
MAP2K7	5609	broad.mit.edu	37	chr19	7975916	7975916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcacggtgtcatccaccgcGacgtcaagccctccaacatc	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7975916G>A	ENST00000545011.1	+	7	918	c.853G>A	c.(853-855)Gac>Aac	p.D285N	MAP2K7_ENST00000397983.3_Missense_Mutation_p.D259N|MAP2K7_ENST00000397981.3_Missense_Mutation_p.D243N|MAP2K7_ENST00000397979.3_Missense_Mutation_p.D243N			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	243	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CATCCACCGCGACGTCAAGCC	0.632													False	0	False	19:7975916	0	A	7975916	G	A	7975916	3	1	88	1	0	0	0	0	1	0	0	0	9309	1058	37	1	753	1	MAP2K7	19	7975916	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	969	7975916	51153067	17796	25508											
TIMM44	10469	broad.mit.edu	37	chr19	8003069	8003069	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccttttctgtttccagaaGaatatgatttggactagaaa	8	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8003069G>A	ENST00000270538.3	-	3	423	c.155C>T	c.(154-156)tCt>tTt	p.S52F		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	52					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GTTTCCAGAAGAATATGATTT	0.323													False	0	False	19:8003069	0	A	8003069	G	A	8003069	3	1	88	1	0	0	0	0	1	0	0	0	15994	942	33	2	1247	2	TIMM44	19	8003069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27153	8003069	51125914	17797	25509											
ELAVL1	1994	broad.mit.edu	37	chr19	8032510	8032510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgctggcgagtggtacaGctgcgagaggagtgccacgt	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8032510G>A	ENST00000407627.2	-	5	724	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	ELAVL1_ENST00000593807.1_Intron|ELAVL1_ENST00000351593.5_Silent_p.L226L|ELAVL1_ENST00000596459.1_Silent_p.L199L	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	199					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAGTGGTACAGCTGCGAGAGG	0.582													False	0	False	19:8032510	0	A	8032510	G	A	8032510	2	1	88	1	0	0	0	0	0	0	0	1	5081	962	34	2		2	ELAVL1	19	8032510	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29441	8032510	51096473	17798	25510											
ELAVL1	1994	broad.mit.edu	37	chr19	8046064	8046064	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacaaagccatagcccaagCtgtgtcctgtgcaagagaac	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8046064C>A	ENST00000407627.2	-	3	308	c.179G>T	c.(178-180)aGc>aTc	p.S60I	ELAVL1_ENST00000593807.1_Missense_Mutation_p.S60I|ELAVL1_ENST00000351593.5_Missense_Mutation_p.S87I|ELAVL1_ENST00000596459.1_Missense_Mutation_p.S60I	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	60	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATAGCCCAAGCTGTGTCCTGT	0.527													False	0	False	19:8046064	0	A	8046064	C	A	8046064	3	1	88	1	0	0	0	0	1	0	0	0	5081	797	28	3	817	3	ELAVL1	19	8046064	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13554	8046064	51082919	17799	25511											
FBN3	84467	broad.mit.edu	37	chr19	8155129	8155129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgaagcagaaactctgcCgtgtgtctgtggggtggggg	20	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8155129C>T	ENST00000600128.1	-	49	6452	c.6038G>A	c.(6037-6039)cGg>cAg	p.R2013Q	FBN3_ENST00000270509.2_Missense_Mutation_p.R2013Q|FBN3_ENST00000601739.1_Missense_Mutation_p.R2013Q			Q75N90	FBN3_HUMAN	fibrillin 3	2013						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAACTCTGCCGTGTGTCTGT	0.612													False	0	True	19:8155129	0	T	8155129	C	T	8155129	3	4	88	1	0	0	0	0	1	0	0	0	5744	652	23	1	2455	1	FBN3	19	8155129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109065	8155129	50973854	17800	25512											
FBN3	84467	broad.mit.edu	37	chr19	8175947	8175947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcccaaccttaccctggCaggcccggtggtcctcggtg	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8175947C>T	ENST00000600128.1	-	33	4619	c.4205G>A	c.(4204-4206)tGc>tAc	p.C1402Y	FBN3_ENST00000270509.2_Missense_Mutation_p.C1402Y|FBN3_ENST00000601739.1_Missense_Mutation_p.C1402Y			Q75N90	FBN3_HUMAN	fibrillin 3	1402	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTTACCCTGGCAGGCCCGGTG	0.667													False	0	False	19:8175947	0	T	8175947	C	T	8175947	3	4	88	1	0	0	0	0	1	0	0	0	5744	710	25	2	4352	2	FBN3	19	8175947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20818	8175947	50953036	17801	25513											
FBN3	84467	broad.mit.edu	37	chr19	8203051	8203051	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagagttgccagggcccaggCtggggatcccacgcgcatca	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8203051C>A	ENST00000600128.1	-	10	1589	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I	FBN3_ENST00000270509.2_Missense_Mutation_p.S392I|FBN3_ENST00000601739.1_Missense_Mutation_p.S392I			Q75N90	FBN3_HUMAN	fibrillin 3	392						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGCCCAGGCTGGGGATCCC	0.612													False	0	False	19:8203051	0	A	8203051	C	A	8203051	3	1	88	1	0	0	0	0	1	0	0	0	5744	797	28	3	7474	3	FBN3	19	8203051	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27104	8203051	50925932	17802	25514											
FBN3	84467	broad.mit.edu	37	chr19	8209804	8209804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccatacacacaggcgcaGcggttgggcccaatgcagcg	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8209804G>A	ENST00000600128.1	-	6	912	c.498C>T	c.(496-498)cgC>cgT	p.R166R	FBN3_ENST00000270509.2_Silent_p.R166R|FBN3_ENST00000601739.1_Silent_p.R166R			Q75N90	FBN3_HUMAN	fibrillin 3	166	EGF-like 1.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACAGGCGCAGCGGTTGGGCC	0.622													False	0	False	19:8209804	0	A	8209804	G	A	8209804	2	1	88	1	0	0	0	0	0	0	0	1	5744	958	34	2		2	FBN3	19	8209804	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6753	8209804	50919179	17803	25515											
CD320	51293	broad.mit.edu	37	chr19	8367489	8367489	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcttgcactgagcaccGctgtggggaacagatggaca	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8367489G>A	ENST00000301458.5	-	5	771	c.707C>T	c.(706-708)gCg>gTg	p.A236V	CD320_ENST00000537716.2_Splice_Site_p.A194V	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	236	Poly-Ala.				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						ACTGAGCACCGCTGTGGGGAA	0.622													False	0	False	19:8367489	0	A	8367489	G	A	8367489	5	1	88	1	0	0	0	0	0	0	1	0	3027	1101	38	1	145	1	CD320	19	8367489	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157685	8367489	50761494	17804	25516											
NDUFA7	4701	broad.mit.edu	37	chr19	8381461	8381461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattcccggcggccatcgCgagtgcaatagtaattgttg	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8381461C>T	ENST00000301457.2	-	3	207	c.170G>A	c.(169-171)cGc>cAc	p.R57H	NDUFA7_ENST00000598884.1_Missense_Mutation_p.R57H	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	57					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	GCGGCCATCGCGAGTGCAATA	0.567													False	0	False	19:8381461	0	T	8381461	C	T	8381461	3	4	88	1	0	0	0	0	1	0	0	0	10338	768	27	1	179	1	NDUFA7	19	8381461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13972	8381461	50747522	17805	25517											
RPS28	6234	broad.mit.edu	37	chr19	8386871	8386871	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catggacgacacgagccgatCcatcatccgcaatgtaaaag	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8386871C>A	ENST00000600659.2	+	3	153	c.122C>A	c.(121-123)tCc>tAc	p.S41Y		NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	41					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome										ACGAGCCGATCCATCATCCGC	0.642													False	0	False	19:8386871	0	A	8386871	C	A	8386871	3	1	88	1	0	0	0	0	1	0	0	0	13720	855	30	3	132	3	RPS28	19	8386871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5410	8386871	50742112	17806	25518											
MARCH2	51257	broad.mit.edu	37	chr19	8486755	8486755	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgactgctgccacctccccGgctccctgtgtgactgctcc	10	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8486755G>T	ENST00000602117.1	+	2	486	c.31G>T	c.(31-33)Ggc>Tgc	p.G11C	MARCH2_ENST00000381035.4_Missense_Mutation_p.G11C|MARCH2_ENST00000215555.2_Missense_Mutation_p.G11C|MARCH2_ENST00000601283.1_Missense_Mutation_p.G11C|MARCH2_ENST00000393944.1_Missense_Mutation_p.G11C			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	11					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CCACCTCCCCGGCTCCCTGTG	0.672													False	0	True	19:8486755	0	T	8486755	G	T	8486755	3	4	88	1	0	0	0	0	1	0	0	0	9368	1116	39	3	33	3	MARCH2	19	8486755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99884	8486755	50642228	17807	25519											
MARCH2	51257	broad.mit.edu	37	chr19	8495681	8495681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccacctccggctccacaGccagctggaggccgtgggtc	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8495681G>A	ENST00000602117.1	+	4	967	c.512G>A	c.(511-513)aGc>aAc	p.S171N	MARCH2_ENST00000381035.4_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.S171N|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000393944.1_Missense_Mutation_p.S171N			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	171					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CGGCTCCACAGCCAGCTGGAG	0.637													False	0	True	19:8495681	0	A	8495681	G	A	8495681	3	1	88	1	0	0	0	0	1	0	0	0	9368	971	34	2	522	2	MARCH2	19	8495681	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8926	8495681	50633302	17808	25520											
HNRNPM	4670	broad.mit.edu	37	chr19	8528515	8528515	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagagcatgaaaaaagCtgcggaagtcctaaacaagc	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8528515C>A	ENST00000348943.3	+	5	615	c.383C>A	c.(382-384)gCt>gAt	p.A128D	HNRNPM_ENST00000325495.4_Missense_Mutation_p.A128D	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	128	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ATGAAAAAAGCTGCGGAAGTC	0.413													False	0	False	19:8528515	0	A	8528515	C	A	8528515	3	1	88	1	0	0	0	0	1	0	0	0	7318	797	28	3	401	3	HNRNPM	19	8528515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32834	8528515	50600468	17809	25521											
HNRNPM	4670	broad.mit.edu	37	chr19	8548057	8548057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagaaatcctaagtaatgCactgaagagaggagagatca	10	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8548057C>T	ENST00000348943.3	+	14	1251	c.1019C>T	c.(1018-1020)gCa>gTa	p.A340V	HNRNPM_ENST00000325495.4_Missense_Mutation_p.A379V	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	379					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CTAAGTAATGCACTGAAGAGA	0.388													False	0	False	19:8548057	0	T	8548057	C	T	8548057	3	4	88	1	0	0	0	0	1	0	0	0	7318	710	25	2	1186	2	HNRNPM	19	8548057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19542	8548057	50580926	17810	25522											
HNRNPM	4670	broad.mit.edu	37	chr19	8550883	8550883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggccctgccatcgagcGcatgggcctgagcatggagc	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8550883G>A	ENST00000348943.3	+	15	1686	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	HNRNPM_ENST00000325495.4_Missense_Mutation_p.R524H	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	524	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	p.R524H(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GCCATCGAGCGCATGGGCCTG	0.697													False	0	False	19:8550883	0	A	8550883	G	A	8550883	3	1	88	1	0	0	0	0	1	0	0	0	7318	1087	38	1	1625	1	HNRNPM	19	8550883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2826	8550883	50578100	17811	25523											
HNRNPM	4670	broad.mit.edu	37	chr19	8550903	8550903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgggcctgagcatggagCgcatggtgcccgcaggtatg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8550903C>T	ENST00000348943.3	+	15	1706	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	HNRNPM_ENST00000325495.4_Missense_Mutation_p.R531C	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	531	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGCATGGAGCGCATGGTGCC	0.687													False	0	False	19:8550903	0	T	8550903	C	T	8550903	3	4	88	1	0	0	0	0	1	0	0	0	7318	768	27	1	1645	1	HNRNPM	19	8550903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	8550903	50578080	17812	25524											
HNRNPM	4670	broad.mit.edu	37	chr19	8551214	8551214	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaacttcggaggaagcttCgcaggttcctttggtggagc	15	9	0	0	rs143994714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8551214C>T	ENST00000348943.3	+	15	2017	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	HNRNPM_ENST00000325495.4_Silent_p.F634F	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	634	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGGAAGCTTCGCAGGTTCCT	0.602													False	0	False	19:8551214	0	T	8551214	C	T	8551214	2	4	88	1	0	0	0	0	0	0	0	1	7318	883	31	1		1	HNRNPM	19	8551214	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	311	8551214	50577769	17813	25525											
PRAM1	84106	broad.mit.edu	37	chr19	8555099	8555099	+	Missense_Mutation	SNP	T	T	G													tcccagggggagtggttggtTttccaggggatctgccgagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555099T>G	ENST00000423345.4	-	10	2507	c.1987A>C	c.(1987-1989)Aac>Cac	p.N663H	PRAM1_ENST00000255612.3_Missense_Mutation_p.N662H			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	711	SH3.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AGTGGTTGGTTTTCCAGGGGA	0.687													False	0	True	19:8555099	0	G	8555099	T	G	8555099	3	3	88	1	0	0	0	0	1	0	0	0	12497	1841	64	4	29	4	PRAM1	19	8555099	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3885	8555099	50573884	17814	25526	269	2									
PRAM1	84106	broad.mit.edu	37	chr19	8555100	8555100	+	Missense_Mutation	SNP	T	T	G													cccagggggagtggttggttTtccaggggatctgccgagga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555100T>G	ENST00000423345.4	-	10	2506	c.1986A>C	c.(1984-1986)gaA>gaC	p.E662D	PRAM1_ENST00000255612.3_Missense_Mutation_p.E661D			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	710	SH3.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GTGGTTGGTTTTCCAGGGGAT	0.687													False	0	True	19:8555100	0	G	8555100	T	G	8555100	3	3	88	1	0	0	0	0	1	0	0	0	12497	1838	64	4	30	4	PRAM1	19	8555100	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1	8555100	50573883	17815	25527	269	2									
PRAM1	84106	broad.mit.edu	37	chr19	8555240	8555240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgcagaagtcgacatcatCgtacacctccgtctccctgg	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555240C>T	ENST00000423345.4	-	9	2477	c.1957G>A	c.(1957-1959)Gat>Aat	p.D653N	PRAM1_ENST00000255612.3_Missense_Mutation_p.D652N			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	701	SH3.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TCGACATCATCGTACACCTCC	0.662													False	0	False	19:8555240	0	T	8555240	C	T	8555240	3	4	88	1	0	0	0	0	1	0	0	0	12497	884	31	1	63	1	PRAM1	19	8555240	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	8555240	50573743	17816	25528											
PRAM1	84106	broad.mit.edu	37	chr19	8564513	8564513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaccaaactcaggcagcGgggccttcttggggtgctcg	14	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8564513G>A	ENST00000423345.4	-	2	699	c.179C>T	c.(178-180)cCg>cTg	p.P60L	PRAM1_ENST00000255612.3_Missense_Mutation_p.P60L			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	60	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTCAGGCAGCGGGGCCTTCTT	0.622													False	0	True	19:8564513	0	A	8564513	G	A	8564513	3	1	88	1	0	0	0	0	1	0	0	0	12497	1116	39	1	1866	1	PRAM1	19	8564513	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9273	8564513	50564470	17817	25529											
ZNF414	84330	broad.mit.edu	37	chr19	8578036	8578036	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggggaggagccctgctGcatccctccagcccctccac	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8578036G>A	ENST00000393927.4	-	2	306	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ZNF414_ENST00000255616.8_Nonsense_Mutation_p.Q65*	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	65			Q -> R (in dbSNP:rs8100431).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						GAGCCCTGCTGCATCCCTCCA	0.706													False	0	False	19:8578036	0	A	8578036	G	A	8578036	4	1	88	1	0	0	0	0	0	1	0	0	17974	1328	46	2	1021	2	ZNF414	19	8578036	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13523	8578036	50550947	17818	25530											
MYO1F	4542	broad.mit.edu	37	chr19	8595095	8595095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttgaagcggcggtcGtacttggtgaccgaatcggc	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8595095G>A	ENST00000338257.8	-	21	2580	c.2313C>T	c.(2311-2313)taC>taT	p.Y771Y		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	771						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGCGGCGGTCGTACTTGGTGA	0.652													False	0	False	19:8595095	0	A	8595095	G	A	8595095	2	1	88	1	0	0	0	0	0	0	0	1	10140	1140	40	1		1	MYO1F	19	8595095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17059	8595095	50533888	17819	25531											
MYO1F	4542	broad.mit.edu	37	chr19	8612995	8612995	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagttgatgcaaaactgctcGaagccatttttctgcagaag	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8612995G>A	ENST00000338257.8	-	12	1461	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	398	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.F398F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AAAACTGCTCGAAGCCATTTT	0.542													False	0	False	19:8612995	0	A	8612995	G	A	8612995	2	1	88	1	0	0	0	0	0	0	0	1	10140	1049	37	1		1	MYO1F	19	8612995	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17900	8612995	50515988	17820	25532											
MYO1F	4542	broad.mit.edu	37	chr19	8619390	8619390	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacactggttctcacagtcGataagcatgttccggtacat	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8619390G>A	ENST00000338257.8	-	4	564	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	99	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTCACAGTCGATAAGCATGT	0.602													False	0	False	19:8619390	0	A	8619390	G	A	8619390	2	1	88	1	0	0	0	0	0	0	0	1	10140	1048	37	1		1	MYO1F	19	8619390	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6395	8619390	50509593	17821	25533											
ACTL9	284382	broad.mit.edu	37	chr19	8808336	8808336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcccaggggcaggccgGcctggagcagcatctccgcc	15	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808336G>A	ENST00000324436.3	-	1	836	c.716C>T	c.(715-717)gCc>gTc	p.A239V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	239						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGGCAGGCCGGCCTGGAGCAG	0.657													False	0	True	19:8808336	0	A	8808336	G	A	8808336	3	1	88	1	0	0	0	0	1	0	0	0	203	1203	42	2	538	2	ACTL9	19	8808336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	188946	8808336	50320647	17822	25534			1	13		5	5	324	N	G_C	7.445194e-05
ACTL9	284382	broad.mit.edu	37	chr19	8808354	8808354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctggagcagcatctccGccaggaaggcggtcaggtgg	17	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808354G>A	ENST00000324436.3	-	1	818	c.698C>T	c.(697-699)gCg>gTg	p.A233V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	233						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGCATCTCCGCCAGGAAGGC	0.642													False	0	False	19:8808354	0	A	8808354	G	A	8808354	3	1	88	1	0	0	0	0	1	0	0	0	203	1087	38	1	556	1	ACTL9	19	8808354	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	8808354	50320629	17823	25535			1	13		5	5	324	N	G_C	7.445194e-05
ACTL9	284382	broad.mit.edu	37	chr19	8808399	8808399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccaggtccagacgctccGtggcgtggagcaggttgtag	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808399G>A	ENST00000324436.3	-	1	773	c.653C>T	c.(652-654)aCg>aTg	p.T218M		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	218						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGACGCTCCGTGGCGTGGAG	0.682													False	0	True	19:8808399	0	A	8808399	G	A	8808399	3	1	88	1	0	0	0	0	1	0	0	0	203	1145	40	1	601	1	ACTL9	19	8808399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	8808399	50320584	17824	25536			1	13		5	5	324	N	G_C	7.445194e-05
ACTL9	284382	broad.mit.edu	37	chr19	8808430	8808430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttgtagccctggaagaCgggcactgtgtaggtgaccc	15	10	0	2	rs139329295		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808430C>T	ENST00000324436.3	-	1	742	c.622G>A	c.(622-624)Gtc>Atc	p.V208I		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	208						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTGGAAGACGGGCACTGTG	0.667													False	0	True	19:8808430	0	T	8808430	C	T	8808430	3	4	88	1	0	0	0	0	1	0	0	0	203	536	19	1	632	1	ACTL9	19	8808430	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	8808430	50320553	17825	25537			1	13		5	5	324	N	G_C	7.445194e-05
ACTL9	284382	broad.mit.edu	37	chr19	8808659	8808659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaggtcgtgctccagcagGtggcgccagatgagctcggc	17	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808659G>A	ENST00000324436.3	-	1	513	c.393C>T	c.(391-393)caC>caT	p.H131H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	131						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCTCCAGCAGGTGGCGCCAGA	0.697													False	0	False	19:8808659	0	A	8808659	G	A	8808659	2	1	88	1	0	0	0	0	0	0	0	1	203	1252	44	2		2	ACTL9	19	8808659	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	229	8808659	50320324	17826	25538			1	13		5	5	324	N	G_C	7.445194e-05
OR2Z1	284383	broad.mit.edu	37	chr19	8841503	8841503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtcatgtttgtcatagGccttctgggcaacaccgttc	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8841503G>A	ENST00000324060.2	+	1	188	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTGTCATAGGCCTTCTGGGC	0.542													False	0	False	19:8841503	0	A	8841503	G	A	8841503	3	1	88	1	0	0	0	0	1	0	0	0	11104	1203	42	2	115	2	OR2Z1	19	8841503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32844	8841503	50287480	17827	25539											
OR2Z1	284383	broad.mit.edu	37	chr19	8841551	8841551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgatccgtgtggactcccGgctccatacacccatgtact	8	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8841551G>A	ENST00000324060.2	+	1	236	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGGACTCCCGGCTCCATACA	0.552													False	0	True	19:8841551	0	A	8841551	G	A	8841551	3	1	88	1	0	0	0	0	1	0	0	0	11104	1116	39	1	163	1	OR2Z1	19	8841551	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	8841551	50287432	17828	25540											
OR2Z1	284383	broad.mit.edu	37	chr19	8842076	8842076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctgttctaagcatgcGctcagaggaggccagacaca	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8842076G>A	ENST00000324060.2	+	1	761	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTAAGCATGCGCTCAGAGGAG	0.587													False	0	False	19:8842076	0	A	8842076	G	A	8842076	3	1	88	1	0	0	0	0	1	0	0	0	11104	1087	38	1	688	1	OR2Z1	19	8842076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	525	8842076	50286907	17829	25541											
ZNF558	148156	broad.mit.edu	37	chr19	8931980	8931980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcctcgaaggttaccaaGccctaaagcattgcaaacat	6	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8931980G>A	ENST00000601372.1	-	7	834	c.123C>T	c.(121-123)ggC>ggT	p.G41G	ZNF558_ENST00000301475.1_Silent_p.G41G|ZNF558_ENST00000444186.2_5'UTR			Q96NG5	ZN558_HUMAN	zinc finger protein 558	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						AGGTTACCAAGCCCTAAAGCA	0.587													False	0	True	19:8931980	0	A	8931980	G	A	8931980	2	1	88	1	0	0	0	0	0	0	0	1	18072	958	34	2		2	ZNF558	19	8931980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89904	8931980	50197003	17830	25542											
MBD3L1	85509	broad.mit.edu	37	chr19	8953519	8953519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcagataccatcaatgGgaggagagcttggagaagcc	15	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8953519G>T	ENST00000595891.1	+	3	396	c.165G>T	c.(163-165)tgG>tgT	p.W55C	MBD3L1_ENST00000305625.2_Missense_Mutation_p.W55C			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	55	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						ACCATCAATGGGAGGAGAGCT	0.512													False	0	True	19:8953519	0	T	8953519	G	T	8953519	3	4	88	1	0	0	0	0	1	0	0	0	9412	1241	43	3	167	3	MBD3L1	19	8953519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21539	8953519	50175464	17831	25543											
MUC16	94025	broad.mit.edu	37	chr19	8973992	8973992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgtcctggatgtccctcaGcagggtgatgtactctgagg	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8973992G>T	ENST00000397910.4	-	76	42882	c.42679C>A	c.(42679-42681)Ctg>Atg	p.L14227M	MUC16_ENST00000380951.5_Missense_Mutation_p.L868M|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14290				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCCCTCAGCAGGGTGATG	0.502													False	0	False	19:8973992	0	T	8973992	G	T	8973992	3	4	88	1	0	0	0	0	1	0	0	0	10040	962	34	3	880	3	MUC16	19	8973992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20473	8973992	50154991	17832	25544											
MUC16	94025	broad.mit.edu	37	chr19	8974076	8974076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttatctggtactcgccccGgattgataaattctggggtg	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8974076G>A	ENST00000397910.4	-	76	42798	c.42595C>T	c.(42595-42597)Cgg>Tgg	p.R14199W	MUC16_ENST00000380951.5_Missense_Mutation_p.R840W|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14230	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACTCGCCCCGGATTGATAAA	0.478													False	0	True	19:8974076	0	A	8974076	G	A	8974076	3	1	88	1	0	0	0	0	1	0	0	0	10040	1115	39	1	964	1	MUC16	19	8974076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84	8974076	50154907	17833	25545											
MUC16	94025	broad.mit.edu	37	chr19	8982221	8982221	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgatgccatgggtctgCtggctcagctcatggaacac	14	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8982221C>A	ENST00000397910.4	-	70	42257	c.42054G>T	c.(42052-42054)caG>caT	p.Q14018H	MUC16_ENST00000380951.5_Missense_Mutation_p.Q659H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14043	SEA 13.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATGGGTCTGCTGGCTCAGCT	0.622													False	0	False	19:8982221	0	A	8982221	C	A	8982221	3	1	88	1	0	0	0	0	1	0	0	0	10040	796	28	3	1529	3	MUC16	19	8982221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8145	8982221	50146762	17834	25546											
MUC16	94025	broad.mit.edu	37	chr19	8995635	8995635	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccattgactggtacttacCtgaagggccaaatatcgagg	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8995635C>T	ENST00000397910.4	-	63	41556	c.41353G>A	c.(41353-41355)Gct>Act	p.A13785T	MUC16_ENST00000380951.5_Splice_Site_p.A426T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13787				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTACTTACCTGAAGGGCCA	0.438													False	0	False	19:8995635	0	T	8995635	C	T	8995635	5	4	88	1	0	0	0	0	0	0	1	0	10040	695	24	2	2258	2	MUC16	19	8995635	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13414	8995635	50133348	17835	25547											
MUC16	94025	broad.mit.edu	37	chr19	8997154	8997154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccagagtacagagggCcaacactggtgctcttgaac	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8997154C>T	ENST00000397910.4	-	60	41245	c.41042G>A	c.(41041-41043)gGc>gAc	p.G13681D	MUC16_ENST00000380951.5_Missense_Mutation_p.G322D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13683	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTACAGAGGGCCAACACTGGT	0.562													False	0	True	19:8997154	0	T	8997154	C	T	8997154	3	4	88	1	0	0	0	0	1	0	0	0	10040	739	26	2	2581	2	MUC16	19	8997154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1519	8997154	50131829	17836	25548											
MUC16	94025	broad.mit.edu	37	chr19	8999547	8999547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcatccactttggtggctGccccatccttcttgggcctg	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8999547G>A	ENST00000397910.4	-	56	40831	c.40628C>T	c.(40627-40629)gCa>gTa	p.A13543V	MUC16_ENST00000380951.5_Missense_Mutation_p.A184V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13545	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGGTGGCTGCCCCATCCTT	0.597													False	0	True	19:8999547	0	A	8999547	G	A	8999547	3	1	88	1	0	0	0	0	1	0	0	0	10040	1319	46	2	3011	2	MUC16	19	8999547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2393	8999547	50129436	17837	25549											
MUC16	94025	broad.mit.edu	37	chr19	9000566	9000566	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaggagagggctggcgGctatagtgaagatgggaaat	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9000566G>A	ENST00000397910.4	-	54	40621	c.40418C>T	c.(40417-40419)aCc>aTc	p.T13473I	MUC16_ENST00000380951.5_Splice_Site_p.T114I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13475					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGCTGGCGGCTATAGTGAA	0.393													False	0	False	19:9000566	0	A	9000566	G	A	9000566	5	1	88	1	0	0	0	0	0	0	1	0	10040	1217	42	2	3229	2	MUC16	19	9000566	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1019	9000566	50128417	17838	25550											
MUC16	94025	broad.mit.edu	37	chr19	9002161	9002161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaatactcacttctggtgGtcgtcatagagctctgatgg	11	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9002161G>A	ENST00000397910.4	-	52	40546	c.40343C>T	c.(40342-40344)aCc>aTc	p.T13448I	MUC16_ENST00000380951.5_Missense_Mutation_p.T89I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13450					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTCTGGTGGTCGTCATAGA	0.498													False	0	False	19:9002161	0	A	9002161	G	A	9002161	3	1	88	1	0	0	0	0	1	0	0	0	10040	1261	44	2	3312	2	MUC16	19	9002161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1595	9002161	50126822	17839	25551											
MUC16	94025	broad.mit.edu	37	chr19	9015664	9015664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgttgaacttcctggagCcagggcaatgcatgtcctcc	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9015664C>T	ENST00000397910.4	-	29	38362	c.38159G>A	c.(38158-38160)gGc>gAc	p.G12720D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12722	SEA 5.			H -> C (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCCTGGAGCCAGGGCAATG	0.547													False	0	False	19:9015664	0	T	9015664	C	T	9015664	3	4	88	1	0	0	0	0	1	0	0	0	10040	739	26	2	5588	2	MUC16	19	9015664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13503	9015664	50113319	17840	25552											
MUC16	94025	broad.mit.edu	37	chr19	9046155	9046155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgctggttccagttacaaGtagggtgaagagagaggatg	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9046155G>T	ENST00000397910.4	-	5	35679	c.35476C>A	c.(35476-35478)Ctt>Att	p.L11826I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11828	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGTTACAAGTAGGGTGAAG	0.502													False	0	False	19:9046155	0	T	9046155	G	T	9046155	3	4	88	1	0	0	0	0	1	0	0	0	10040	1029	36	3	8367	3	MUC16	19	9046155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30491	9046155	50082828	17841	25553											
MUC16	94025	broad.mit.edu	37	chr19	9046323	9046323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcaataaggctgtggTctctggcataccaggagaat	13	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9046323T>C	ENST00000397910.4	-	5	35511	c.35308A>G	c.(35308-35310)Acc>Gcc	p.T11770A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11772	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGCTGTGGTCTCTGGCATA	0.483													False	0	False	19:9046323	0	C	9046323	T	C	9046323	3	2	88	1	0	0	0	0	1	0	0	0	10040	1667	58	4	8535	4	MUC16	19	9046323	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	168	9046323	50082660	17842	25554											
MUC16	94025	broad.mit.edu	37	chr19	9047105	9047105	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgacttactatgggaaAacttgggagttgtcctggga	13	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9047105A>C	ENST00000397910.4	-	5	34729	c.34526T>G	c.(34525-34527)tTt>tGt	p.F11509C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11511	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTATGGGAAAACTTGGGAGT	0.502													False	0	True	19:9047105	0	C	9047105	A	C	9047105	3	2	88	1	0	0	0	0	1	0	0	0	10040	14	1	4	9317	4	MUC16	19	9047105	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	782	9047105	50081878	17843	25555											
MUC16	94025	broad.mit.edu	37	chr19	9047793	9047793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaaaccttgaggttgTcctgggaagagttgagctac	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9047793T>C	ENST00000397910.4	-	5	34041	c.33838A>G	c.(33838-33840)Aca>Gca	p.T11280A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11282	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGAGGTTGTCCTGGGAAGA	0.463													False	0	False	19:9047793	0	C	9047793	T	C	9047793	3	2	88	1	0	0	0	0	1	0	0	0	10040	1667	58	4	10005	4	MUC16	19	9047793	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	688	9047793	50081190	17844	25556											
MUC16	94025	broad.mit.edu	37	chr19	9048279	9048279	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctggctcactagaagaaaGagttagaattggaatagttg	11	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9048279G>T	ENST00000397910.4	-	5	33555	c.33352C>A	c.(33352-33354)Ctt>Att	p.L11118I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11120	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L6751F(1)|p.L11118F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGAAGAAAGAGTTAGAATT	0.498													False	0	True	19:9048279	0	T	9048279	G	T	9048279	3	4	88	1	0	0	0	0	1	0	0	0	10040	942	33	3	10491	3	MUC16	19	9048279	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	486	9048279	50080704	17845	25557											
MUC16	94025	broad.mit.edu	37	chr19	9048837	9048837	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccagagaggtcaccactcCtggtaccccaggtgaaacag	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9048837C>A	ENST00000397910.4	-	5	32997	c.32794G>T	c.(32794-32796)Gga>Tga	p.G10932*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10934	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCACCACTCCTGGTACCCCA	0.488													False	0	False	19:9048837	0	A	9048837	C	A	9048837	4	1	88	1	0	0	0	0	0	1	0	0	10040	690	24	3	11049	3	MUC16	19	9048837	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	558	9048837	50080146	17846	25558											
MUC16	94025	broad.mit.edu	37	chr19	9054331	9054331	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggtatttttgtgatgtgttCcataatgccatcagttcctg	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9054331C>A	ENST00000397910.4	-	4	31494	c.31291G>T	c.(31291-31293)Gaa>Taa	p.E10431*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10433	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGATGTGTTCCATAATGCCA	0.458													False	0	False	19:9054331	0	A	9054331	C	A	9054331	4	1	88	1	0	0	0	0	0	1	0	0	10040	864	30	3	12556	3	MUC16	19	9054331	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5494	9054331	50074652	17847	25559											
MUC16	94025	broad.mit.edu	37	chr19	9057514	9057514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtccttgccaagggggCtgttgttgtggccaaggtaa	17	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9057514C>A	ENST00000397910.4	-	3	30135	c.29932G>T	c.(29932-29934)Gcc>Tcc	p.A9978S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9980	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAAGGGGGCTGTTGTTGTG	0.463													False	0	True	19:9057514	0	A	9057514	C	A	9057514	3	1	88	1	0	0	0	0	1	0	0	0	10040	797	28	3	13919	3	MUC16	19	9057514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3183	9057514	50071469	17848	25560											
MUC16	94025	broad.mit.edu	37	chr19	9058483	9058483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttatttctgcagattctgTcatgatgggagaggtagaca	13	5	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9058483T>C	ENST00000397910.4	-	3	29166	c.28963A>G	c.(28963-28965)Aca>Gca	p.T9655A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9657	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T5288A(1)|p.T9655A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGATTCTGTCATGATGGGA	0.502													False	0	False	19:9058483	0	C	9058483	T	C	9058483	3	2	88	1	0	0	0	0	1	0	0	0	10040	1667	58	4	14888	4	MUC16	19	9058483	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	969	9058483	50070500	17849	25561											
MUC16	94025	broad.mit.edu	37	chr19	9060121	9060121	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatccttgagatgcagTtgagtgggtccctgacataa	11	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9060121T>A	ENST00000397910.4	-	3	27528	c.27325A>T	c.(27325-27327)Act>Tct	p.T9109S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9111	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGATGCAGTTGAGTGGGTC	0.488													False	0	False	19:9060121	0	A	9060121	T	A	9060121	3	1	88	1	0	0	0	0	1	0	0	0	10040	1725	60	5	16526	5	MUC16	19	9060121	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1638	9060121	50068862	17850	25562											
MUC16	94025	broad.mit.edu	37	chr19	9061129	9061129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtgaggggagtagaaaTtctagtgatggtttccgtgg	17	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9061129T>C	ENST00000397910.4	-	3	26520	c.26317A>G	c.(26317-26319)Att>Gtt	p.I8773V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8775	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGTAGAAATTCTAGTGATG	0.507													False	0	True	19:9061129	0	C	9061129	T	C	9061129	3	2	88	1	0	0	0	0	1	0	0	0	10040	1493	52	4	17534	4	MUC16	19	9061129	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1008	9061129	50067854	17851	25563											
MUC16	94025	broad.mit.edu	37	chr19	9062517	9062517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttctctgcttatgcccatcCtgtctgtggttatcaccagg	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9062517C>A	ENST00000397910.4	-	3	25132	c.24929G>T	c.(24928-24930)aGg>aTg	p.R8310M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8312	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGCCCATCCTGTCTGTGGT	0.478													False	0	True	19:9062517	0	A	9062517	C	A	9062517	3	1	88	1	0	0	0	0	1	0	0	0	10040	681	24	3	18922	3	MUC16	19	9062517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1388	9062517	50066466	17852	25564											
MUC16	94025	broad.mit.edu	37	chr19	9064209	9064210	+	Frame_Shift_Ins	INS	-	-	CATC													ctcatgggaggtggtgctcaINSaacttgaagatgaactggtt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9064209_9064210insCATC	ENST00000397910.4	-	3	23439_23440	c.23236_23237insGATG	c.(23236-23238)ttgfs	p.L7746fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7748	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGGTGCTCAAACTTGAAGAT	0.52													False	0	True	19:9064209	0	CATC	9064210	-	CATC	9064209	7	5	88	1	0	1	1	0	0	0	0	0	10040	131	5	0	20614	0	MUC16	19	9064209	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1692	9064209	50064774	17853	25565											
MUC16	94025	broad.mit.edu	37	chr19	9066782	9066782	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtggtttccacattagtCgctgctgtgcttgtggaagg	14	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9066782C>T	ENST00000397910.4	-	3	20867	c.20664G>A	c.(20662-20664)gcG>gcA	p.A6888A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6890	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCACATTAGTCGCTGCTGTGC	0.483													False	0	False	19:9066782	0	T	9066782	C	T	9066782	2	4	88	1	0	0	0	0	0	0	0	1	10040	871	31	1		1	MUC16	19	9066782	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2573	9066782	50062201	17854	25566											
MUC16	94025	broad.mit.edu	37	chr19	9067822	9067822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagaggtggggagtgaagTcagatgaacaggagaagacg	18	5	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9067822T>C	ENST00000397910.4	-	3	19827	c.19624A>G	c.(19624-19626)Act>Gct	p.T6542A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6544	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGTGAAGTCAGATGAACA	0.507													False	0	False	19:9067822	0	C	9067822	T	C	9067822	3	2	88	1	0	0	0	0	1	0	0	0	10040	1667	58	4	24227	4	MUC16	19	9067822	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1040	9067822	50061161	17855	25567											
MUC16	94025	broad.mit.edu	37	chr19	9070734	9070734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgatgtagccccaggaGtagttgtttgagtggtgacg	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9070734G>A	ENST00000397910.4	-	3	16915	c.16712C>T	c.(16711-16713)aCt>aTt	p.T5571I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5573	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCCCAGGAGTAGTTGTTTG	0.512													False	0	False	19:9070734	0	A	9070734	G	A	9070734	3	1	88	1	0	0	0	0	1	0	0	0	10040	1029	36	2	27139	2	MUC16	19	9070734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2912	9070734	50058249	17856	25568											
MUC16	94025	broad.mit.edu	37	chr19	9071209	9071209	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaatgatgcatggcggcttCtgtgtgtgcagtgtctttgt	15	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9071209C>A	ENST00000397910.4	-	3	16440	c.16237G>T	c.(16237-16239)Gaa>Taa	p.E5413*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5415	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGCGGCTTCTGTGTGTGCA	0.507													False	0	True	19:9071209	0	A	9071209	C	A	9071209	4	1	88	1	0	0	0	0	0	1	0	0	10040	922	32	3	27614	3	MUC16	19	9071209	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	475	9071209	50057774	17857	25569											
MUC16	94025	broad.mit.edu	37	chr19	9072986	9072986	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatgcgttgtctctatAtctgtggtggctgctgaagt	14	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9072986A>G	ENST00000397910.4	-	3	14663	c.14460T>C	c.(14458-14460)gaT>gaC	p.D4820D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4822	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTCTCTATATCTGTGGTGG	0.463													False	0	False	19:9072986	0	G	9072986	A	G	9072986	2	3	88	1	0	0	0	0	0	0	0	1	10040	446	16	4		4	MUC16	19	9072986	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1777	9072986	50055997	17858	25570											
MUC16	94025	broad.mit.edu	37	chr19	9075035	9075035	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctcaggacctttgctaaaGagagtggtcttctctgagta	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9075035G>T	ENST00000397910.4	-	3	12614	c.12411C>A	c.(12409-12411)ctC>ctA	p.L4137L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4139	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTGCTAAAGAGAGTGGTCT	0.512													False	0	True	19:9075035	0	T	9075035	G	T	9075035	2	4	88	1	0	0	0	0	0	0	0	1	10040	929	33	3		3	MUC16	19	9075035	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2049	9075035	50053948	17859	25571											
MUC16	94025	broad.mit.edu	37	chr19	9084855	9084855	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtggttggagcagcagaGgtgattgtccttctctctcc	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9084855G>T	ENST00000397910.4	-	1	7163	c.6960C>A	c.(6958-6960)acC>acA	p.T2320T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2320	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCAGCAGAGGTGATTGTCC	0.478													False	0	False	19:9084855	0	T	9084855	G	T	9084855	2	4	88	1	0	0	0	0	0	0	0	1	10040	987	35	3		3	MUC16	19	9084855	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9820	9084855	50044128	17860	25572											
MUC16	94025	broad.mit.edu	37	chr19	9085462	9085462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagtgttcaaagtactcGcggctgtattctggggacca	11	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9085462G>A	ENST00000397910.4	-	1	6556	c.6353C>T	c.(6352-6354)gCg>gTg	p.A2118V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2118	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAAGTACTCGCGGCTGTATT	0.488													False	0	False	19:9085462	0	A	9085462	G	A	9085462	3	1	88	1	0	0	0	0	1	0	0	0	10040	1087	38	1	37506	1	MUC16	19	9085462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	607	9085462	50043521	17861	25573											
MUC16	94025	broad.mit.edu	37	chr19	9085546	9085546	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcagctgaaaagagtggaAattcagtcgtagttgaactt	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9085546A>C	ENST00000397910.4	-	1	6472	c.6269T>G	c.(6268-6270)tTt>tGt	p.F2090C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2090	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGAGTGGAAATTCAGTCGT	0.473													False	0	True	19:9085546	0	C	9085546	A	C	9085546	3	2	88	1	0	0	0	0	1	0	0	0	10040	14	1	4	37590	4	MUC16	19	9085546	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	84	9085546	50043437	17862	25574											
MUC16	94025	broad.mit.edu	37	chr19	9089523	9089523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaacggctgagctgggCtttgtctttgttgagatttc	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9089523C>T	ENST00000397910.4	-	1	2495	c.2292G>A	c.(2290-2292)aaG>aaA	p.K764K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	764	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGCTGGGCTTTGTCTTTG	0.478													False	0	True	19:9089523	0	T	9089523	C	T	9089523	2	4	88	1	0	0	0	0	0	0	0	1	10040	796	28	2		2	MUC16	19	9089523	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3977	9089523	50039460	17863	25575											
MUC16	94025	broad.mit.edu	37	chr19	9089904	9089904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccagagtcaaatctgcGgatgtctcagatgatgctgt	13	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9089904G>A	ENST00000397910.4	-	1	2114	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	637	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S637S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAAATCTGCGGATGTCTCAG	0.582													False	0	False	19:9089904	0	A	9089904	G	A	9089904	2	1	88	1	0	0	0	0	0	0	0	1	10040	1103	39	1		1	MUC16	19	9089904	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	381	9089904	50039079	17864	25576											
MUC16	94025	broad.mit.edu	37	chr19	9090171	9090171	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccacactggttgatgctggGggtctctctgttttcatgct	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9090171G>T	ENST00000397910.4	-	1	1847	c.1644C>A	c.(1642-1644)ccC>ccA	p.P548P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	548	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGATGCTGGGGGTCTCTCTG	0.527													False	0	True	19:9090171	0	T	9090171	G	T	9090171	2	4	88	1	0	0	0	0	0	0	0	1	10040	1219	43	3		3	MUC16	19	9090171	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	267	9090171	50038812	17865	25577											
MUC16	94025	broad.mit.edu	37	chr19	9090699	9090699	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgctgggtatatccatggtCtcagcgaaggcatggaaggt	15	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9090699C>A	ENST00000397910.4	-	1	1319	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	372	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATCCATGGTCTCAGCGAAGG	0.517													False	0	False	19:9090699	0	A	9090699	C	A	9090699	3	1	88	1	0	0	0	0	1	0	0	0	10040	912	32	3	42743	3	MUC16	19	9090699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	528	9090699	50038284	17866	25578											
OR1M1	125963	broad.mit.edu	37	chr19	9204616	9204616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaggtcccctctgcaggCggcaggaagaaagccttctc	12	12	2	2	rs142350139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9204616C>T	ENST00000429566.3	+	1	762	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTCTGCAGGCGGCAGGAAGA	0.582													False	0	False	19:9204616	0	T	9204616	C	T	9204616	2	4	88	1	0	0	0	0	0	0	0	1	11036	755	27	1		1	OR1M1	19	9204616	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113917	9204616	49924367	17867	25579											
OR7G3	390883	broad.mit.edu	37	chr19	9236904	9236904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacgattaaatgtgacccGcagatggaaaaagctttata	8	7	0	2	rs143566600		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9236904G>A	ENST00000305444.2	-	1	722	c.723C>T	c.(721-723)tgC>tgT	p.C241C		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AATGTGACCCGCAGATGGAAA	0.443													False	0	True	19:9236904	0	A	9236904	G	A	9236904	2	1	88	1	0	0	0	0	0	0	0	1	11292	1079	38	1		1	OR7G3	19	9236904	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32288	9236904	49892079	17868	25580											
OR7G3	390883	broad.mit.edu	37	chr19	9237060	9237060	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttattgatgaggacatcagaAcaggcgagcttgagaatatg	12	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9237060A>G	ENST00000305444.2	-	1	566	c.567T>C	c.(565-567)tgT>tgC	p.C189C		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGACATCAGAACAGGCGAGCT	0.458													False	0	False	19:9237060	0	G	9237060	A	G	9237060	2	3	88	1	0	0	0	0	0	0	0	1	11292	41	2	4		4	OR7G3	19	9237060	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	156	9237060	49891923	17869	25581											
ZNF317	57693	broad.mit.edu	37	chr19	9271217	9271217	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaaatccacatgcgagTtcacactggcgagaggcctt	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9271217T>C	ENST00000247956.6	+	7	1201	c.896T>C	c.(895-897)gTt>gCt	p.V299A	ZNF317_ENST00000360385.3_Missense_Mutation_p.V267A	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACATGCGAGTTCACACTGGC	0.567													False	0	False	19:9271217	0	C	9271217	T	C	9271217	3	2	88	1	0	0	0	0	1	0	0	0	17918	1725	60	4	918	4	ZNF317	19	9271217	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34157	9271217	49857766	17870	25582											
OR7D2	162998	broad.mit.edu	37	chr19	9296785	9296785	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctccatgttttttcctattCtggacacgctactcctgacc	5	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9296785C>A	ENST00000344248.2	+	1	507	c.328C>A	c.(328-330)Ctg>Atg	p.L110M		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	110					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L110V(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTTTCCTATTCTGGACACGCT	0.517													False	0	False	19:9296785	0	A	9296785	C	A	9296785	3	1	88	1	0	0	0	0	1	0	0	0	11287	912	32	3	330	3	OR7D2	19	9296785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25568	9296785	49832198	17871	25583											
OR7D4	125958	broad.mit.edu	37	chr19	9324695	9324695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgtacatcactgaggcGgtggagctgctctgggaaga	16	8	2	2	rs141567228	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9324695G>A	ENST00000308682.2	-	1	847	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCACTGAGGCGGTGGAGCTGC	0.552													False	0	False	19:9324695	0	A	9324695	G	A	9324695	2	1	88	1	0	0	0	0	0	0	0	1	11288	1103	39	1		1	OR7D4	19	9324695	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27910	9324695	49804288	17872	25584											
OR7D4	125958	broad.mit.edu	37	chr19	9324922	9324922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtggccacatacaagaCaatgttattgaggagggtgt	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9324922C>T	ENST00000308682.2	-	1	620	c.592G>A	c.(592-594)Gtc>Atc	p.V198I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ACATACAAGACAATGTTATTG	0.522													False	0	False	19:9324922	0	T	9324922	C	T	9324922	3	4	88	1	0	0	0	0	1	0	0	0	11288	478	17	2	350	2	OR7D4	19	9324922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	9324922	49804061	17873	25585											
OR7D4	125958	broad.mit.edu	37	chr19	9325388	9325388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccagaatgatgagcagGttccccagcaccgtgaccag	12	13	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9325388G>A	ENST00000308682.2	-	1	154	c.126C>T	c.(124-126)aaC>aaT	p.N42N		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGATGAGCAGGTTCCCCAGCA	0.527													False	0	False	19:9325388	0	A	9325388	G	A	9325388	2	1	88	1	0	0	0	0	0	0	0	1	11288	1252	44	2		2	OR7D4	19	9325388	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	466	9325388	49803595	17874	25586											
OR7D4	125958	broad.mit.edu	37	chr19	9325480	9325480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagagtcccaggaggagaaAttttgataattctgtaaggt	12	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9325480A>C	ENST00000308682.2	-	1	62	c.34T>G	c.(34-36)Ttt>Gtt	p.F12V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGAGGAGAAATTTTGATAAT	0.498													False	0	True	19:9325480	0	C	9325480	A	C	9325480	3	2	88	1	0	0	0	0	1	0	0	0	11288	101	4	4	908	4	OR7D4	19	9325480	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	92	9325480	49803503	17875	25587											
OR7E24	26648	broad.mit.edu	37	chr19	9362113	9362113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcatgtatggatgacatgCtcctgagtgtgatggcctat	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9362113C>A	ENST00000456448.1	+	1	508	c.394C>A	c.(394-396)Ctc>Atc	p.L132I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GGATGACATGCTCCTGAGTGT	0.478													False	0	False	19:9362113	0	A	9362113	C	A	9362113	3	1	88	1	0	0	0	0	1	0	0	0	11289	797	28	3	396	3	OR7E24	19	9362113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36633	9362113	49766870	17876	25588											
OR7E24	26648	broad.mit.edu	37	chr19	9362432	9362432	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccttttctcttactataAaattgtttcccccattctga	3	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9362432A>C	ENST00000456448.1	+	1	827	c.713A>C	c.(712-714)aAa>aCa	p.K238T		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCTTACTATAAAATTGTTTCC	0.423													False	0	True	19:9362432	0	C	9362432	A	C	9362432	3	2	88	1	0	0	0	0	1	0	0	0	11289	14	1	4	715	4	OR7E24	19	9362432	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	319	9362432	49766551	17877	25589											
ZNF559	84527	broad.mit.edu	37	chr19	9452958	9452958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataagaaatttggcaaagcCtttgctttttccccagatct	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9452958C>T	ENST00000393883.2	+	6	1479	c.831C>T	c.(829-831)gcC>gcT	p.A277A	ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000603380.1_Silent_p.A277A|ZNF559_ENST00000587557.1_Silent_p.A341A|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Silent_p.A197A|ZNF559_ENST00000317221.7_3'UTR	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTGGCAAAGCCTTTGCTTTTT	0.348													False	0	True	19:9452958	0	T	9452958	C	T	9452958	2	4	88	1	0	0	0	0	0	0	0	1	18073	668	24	2		2	ZNF559	19	9452958	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90526	9452958	49676025	17878	25590											
ZNF559	84527	broad.mit.edu	37	chr19	9453386	9453386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgggaaagccttcattcGatcctcatttcttattcgac	8	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9453386G>A	ENST00000393883.2	+	6	1907	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.R420Q|ZNF559_ENST00000587557.1_Missense_Mutation_p.R484Q|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R340Q|ZNF559_ENST00000317221.7_3'UTR	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GCCTTCATTCGATCCTCATTT	0.418													False	0	False	19:9453386	0	A	9453386	G	A	9453386	3	1	88	1	0	0	0	0	1	0	0	0	18073	1058	37	1	1273	1	ZNF559	19	9453386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	428	9453386	49675597	17879	25591											
ZNF177	7730	broad.mit.edu	37	chr19	9492029	9492029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactggagagaaaccctatgActgtaaggaatgtgggaagg	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9492029A>G	ENST00000541595.2	+	12	1171	c.542A>G	c.(541-543)gAc>gGc	p.D181G	ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000343499.4_Missense_Mutation_p.D181G|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.D181G|ZNF177_ENST00000589262.1_Missense_Mutation_p.D341G|ZNF177_ENST00000434737.2_Missense_Mutation_p.D341G|ZNF177_ENST00000590616.1_Intron	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	181					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						AAACCCTATGACTGTAAGGAA	0.458													False	0	False	19:9492029	0	G	9492029	A	G	9492029	3	3	88	1	0	0	0	0	1	0	0	0	17829	275	10	4	1040	4	ZNF177	19	9492029	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38643	9492029	49636954	17880	25592											
ZNF426	79088	broad.mit.edu	37	chr19	9639635	9639635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattccttacattcatagggCttgtctccactgtgagatcg	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9639635C>T	ENST00000593003.1	-	6	1449	c.972G>A	c.(970-972)aaG>aaA	p.K324K	ZNF426_ENST00000253115.2_Silent_p.K362K|ZNF426_ENST00000535489.1_Silent_p.K362K			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTCATAGGGCTTGTCTCCAC	0.443													False	0	True	19:9639635	0	T	9639635	C	T	9639635	2	4	88	1	0	0	0	0	0	0	0	1	17983	796	28	2		2	ZNF426	19	9639635	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147606	9639635	49489348	17881	25593											
ZNF426	79088	broad.mit.edu	37	chr19	9644530	9644530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctactgtggccaggTtcttgtagttctccagcatc	8	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9644530T>C	ENST00000593003.1	-	3	593	c.116A>G	c.(115-117)aAc>aGc	p.N39S	ZNF426_ENST00000589289.1_Missense_Mutation_p.N77S|ZNF426_ENST00000253115.2_Missense_Mutation_p.N77S|ZNF426_ENST00000535489.1_Missense_Mutation_p.N77S			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGTGGCCAGGTTCTTGTAGTT	0.478													False	0	False	19:9644530	0	C	9644530	T	C	9644530	3	2	88	1	0	0	0	0	1	0	0	0	17983	1725	60	4	1450	4	ZNF426	19	9644530	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4895	9644530	49484453	17882	25594											
ZNF561	93134	broad.mit.edu	37	chr19	9721015	9721015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttctctccggtatgagttCgcaggtgaacattaaggcgt	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9721015C>T	ENST00000302851.3	-	6	1685	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	ZNF561_ENST00000354661.4_Missense_Mutation_p.R305Q|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.R372Q	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GGTATGAGTTCGCAGGTGAAC	0.418													False	0	False	19:9721015	0	T	9721015	C	T	9721015	3	4	88	1	0	0	0	0	1	0	0	0	18075	884	31	1	142	1	ZNF561	19	9721015	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76485	9721015	49407968	17883	25595											
ZNF846	162993	broad.mit.edu	37	chr19	9869139	9869139	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgactgattaagaaaagttCtccaacagtctttgcattca	6	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9869139C>A	ENST00000397902.2	-	6	1027	c.614G>T	c.(613-615)aGa>aTa	p.R205I	ZNF846_ENST00000588267.1_Missense_Mutation_p.R76I|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.R76I	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AAGAAAAGTTCTCCAACAGTC	0.358													False	0	False	19:9869139	0	A	9869139	C	A	9869139	3	1	88	1	0	0	0	0	1	0	0	0	18274	913	32	3	991	3	ZNF846	19	9869139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148124	9869139	49259844	17884	25596											
FBXL12	54850	broad.mit.edu	37	chr19	9921948	9921948	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcaagcctctgcagatagCtgagctcctgcaggccagca	10	15	2	2	rs142733350	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9921948C>A	ENST00000247977.4	-	3	846	c.605G>T	c.(604-606)aGc>aTc	p.S202I	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.S149I|FBXL12_ENST00000591009.1_Missense_Mutation_p.S149I|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	202							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CTGCAGATAGCTGAGCTCCTG	0.667													False	0	False	19:9921948	0	A	9921948	C	A	9921948	3	1	88	1	0	0	0	0	1	0	0	0	5748	797	28	3	379	3	FBXL12	19	9921948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52809	9921948	49207035	17885	25597											
PIN1	5300	broad.mit.edu	37	chr19	9949194	9949194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcagtggtggcaaaaaCgggcagggggagcctgccag	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9949194C>T	ENST00000247970.4	+	2	163	c.141C>T	c.(139-141)aaC>aaT	p.N47N	PIN1_ENST00000380889.6_3'UTR|PIN1_ENST00000588695.1_Silent_p.N47N|PIN1_ENST00000587625.1_Silent_p.N47N	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	47					cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(3)	3						GTGGCAAAAACGGGCAGGGGG	0.667													False	0	True	19:9949194	0	T	9949194	C	T	9949194	2	4	88	1	0	0	0	0	0	0	0	1	11999	535	19	1		1	PIN1	19	9949194	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27246	9949194	49179789	17886	25598											
OLFM2	93145	broad.mit.edu	37	chr19	9964924	9964924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtagagcacctggtggcCgttgttccaggtatagaggg	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9964924C>T	ENST00000264833.4	-	6	1488	c.1303G>A	c.(1303-1305)Ggc>Agc	p.G435S	OLFM2_ENST00000590841.1_Missense_Mutation_p.G357S	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	435	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACCTGGTGGCCGTTGTTCCAG	0.602													False	0	False	19:9964924	0	T	9964924	C	T	9964924	3	4	88	1	0	0	0	0	1	0	0	0	10921	652	23	1	65	1	OLFM2	19	9964924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15730	9964924	49164059	17887	25599											
OLFM2	93145	broad.mit.edu	37	chr19	9965413	9965413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggagccgttgtacaccaCgtggcccgtgcccgcccacg	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9965413C>T	ENST00000264833.4	-	6	999	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	OLFM2_ENST00000590841.1_Missense_Mutation_p.V194M	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	272	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TTGTACACCACGTGGCCCGTG	0.612													False	0	False	19:9965413	0	T	9965413	C	T	9965413	3	4	88	1	0	0	0	0	1	0	0	0	10921	536	19	1	554	1	OLFM2	19	9965413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	489	9965413	49163570	17888	25600											
OLFM2	93145	broad.mit.edu	37	chr19	9965432	9965432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggcccgtgcccgcccaCggctggggcagcaggtgctg	17	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9965432C>T	ENST00000264833.4	-	6	980	c.795G>A	c.(793-795)ccG>ccA	p.P265P	OLFM2_ENST00000590841.1_Silent_p.P187P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	265	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TGCCCGCCCACGGCTGGGGCA	0.582													False	0	False	19:9965432	0	T	9965432	C	T	9965432	2	4	88	1	0	0	0	0	0	0	0	1	10921	523	19	1		1	OLFM2	19	9965432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	9965432	49163551	17889	25601											
OLFM2	93145	broad.mit.edu	37	chr19	9968460	9968460	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccaggctccgcatgagggtCtccatgccgcgtacatactg	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9968460C>A	ENST00000264833.4	-	3	476	c.291G>T	c.(289-291)gaG>gaT	p.E97D	OLFM2_ENST00000590841.1_Missense_Mutation_p.E19D	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	97						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCATGAGGGTCTCCATGCCGC	0.617													False	0	False	19:9968460	0	A	9968460	C	A	9968460	3	1	88	1	0	0	0	0	1	0	0	0	10921	912	32	3	1089	3	OLFM2	19	9968460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3028	9968460	49160523	17890	25602											
OLFM2	93145	broad.mit.edu	37	chr19	9971444	9971444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaggtgtacagctgccaGccctcttctgggttctggaa	13	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9971444G>A	ENST00000264833.4	-	2	275	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	30						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACAGCTGCCAGCCCTCTTCTG	0.632													False	0	True	19:9971444	0	A	9971444	G	A	9971444	2	1	88	1	0	0	0	0	0	0	0	1	10921	958	34	2		2	OLFM2	19	9971444	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2984	9971444	49157539	17891	25603											
COL5A3	50509	broad.mit.edu	37	chr19	10081698	10081698	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttctcccctggggaaccatCtatgccctgcatggggggaa	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10081698C>A	ENST00000264828.3	-	53	3920	c.3835G>T	c.(3835-3837)Gat>Tat	p.D1279Y		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1279	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGGAACCATCTATGCCCTGC	0.582													False	0	False	19:10081698	0	A	10081698	C	A	10081698	3	1	88	1	0	0	0	0	1	0	0	0	3721	913	32	3	1462	3	COL5A3	19	10081698	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110254	10081698	49047285	17892	25604											
COL5A3	50509	broad.mit.edu	37	chr19	10091784	10091784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtggtccccgctctccttCcaggcctggctgccctgtct	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10091784C>T	ENST00000264828.3	-	33	2570	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	829	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CGCTCTCCTTCCAGGCCTGGC	0.522													False	0	False	19:10091784	0	T	10091784	C	T	10091784	3	4	88	1	0	0	0	0	1	0	0	0	3721	864	30	2	2892	2	COL5A3	19	10091784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10086	10091784	49037199	17893	25605											
COL5A3	50509	broad.mit.edu	37	chr19	10100162	10100162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagagggccatcggatcCtgggaggcctggaattcctg	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10100162C>T	ENST00000264828.3	-	25	2114	c.2029G>A	c.(2029-2031)Gga>Aga	p.G677R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	677	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCATCGGATCCTGGGAGGCCT	0.552													False	0	False	19:10100162	0	T	10100162	C	T	10100162	3	4	88	1	0	0	0	0	1	0	0	0	3721	690	24	2	3380	2	COL5A3	19	10100162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8378	10100162	49028821	17894	25606											
COL5A3	50509	broad.mit.edu	37	chr19	10114292	10114292	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggtccaaatttccttgttCtttttcctgcccttcccctt	5	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10114292C>A	ENST00000264828.3	-	6	883	c.798G>T	c.(796-798)aaG>aaT	p.K266N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	266	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTTCCTTGTTCTTTTTCCTGC	0.577											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:10114292	0	A	10114292	C	A	10114292	3	1	88	1	0	0	0	0	1	0	0	0	3721	912	32	3	4687	3	COL5A3	19	10114292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14130	10114292	49014691	17895	25607											
RDH8	50700	broad.mit.edu	37	chr19	10129521	10129521	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctcgtcaaagctgtgcTtccaggcatgaagaggaggc	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10129521T>G	ENST00000591589.1	+	3	626	c.437T>G	c.(436-438)cTt>cGt	p.L146R	RDH8_ENST00000171214.1_Missense_Mutation_p.L126R			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	126					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAAGCTGTGCTTCCAGGCATG	0.607													False	0	False	19:10129521	0	G	10129521	T	G	10129521	3	3	88	1	0	0	0	0	1	0	0	0	13275	1609	56	4	387	4	RDH8	19	10129521	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15229	10129521	48999462	17896	25608											
RDH8	50700	broad.mit.edu	37	chr19	10132384	10132384	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaaccttggccttcaatgtCtgtcctgcggctgcctccca	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10132384C>T	ENST00000591589.1	+	6	1144	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	RDH8_ENST00000171214.1_Silent_p.L299L			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	299					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCTTCAATGTCTGTCCTGCGG	0.587													False	0	True	19:10132384	0	T	10132384	C	T	10132384	2	4	88	1	0	0	0	0	0	0	0	1	13275	912	32	2		2	RDH8	19	10132384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2863	10132384	48996599	17897	25609											
C19orf66	55337	broad.mit.edu	37	chr19	10200693	10200693	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctcctcctgcgaccacgtCtggtggcgccgcgtgcccca	12	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10200693C>A	ENST00000397881.3	+	5	678	c.201C>A	c.(199-201)gtC>gtA	p.V67V	CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000253110.11_Silent_p.V118V|C19orf66_ENST00000591813.1_Silent_p.V118V			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	118										large_intestine(3)|skin(1)	4						GCGACCACGTCTGGTGGCGCC	0.582													False	0	False	19:10200693	0	A	10200693	C	A	10200693	2	1	88	1	0	0	0	0	0	0	0	1	1961	900	32	3		3	C19orf66	19	10200693	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68309	10200693	48928290	17898	25610											
ANGPTL6	83854	broad.mit.edu	37	chr19	10205540	10205540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctggggctgggtccagCatcctactggtgtcactggt	15	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10205540C>T	ENST00000253109.4	-	3	895	c.657G>A	c.(655-657)atG>atA	p.M219I	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.M219I|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.M219I	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	219					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CTGGGTCCAGCATCCTACTGG	0.647													False	0	False	19:10205540	0	T	10205540	C	T	10205540	3	4	88	1	0	0	0	0	1	0	0	0	618	710	25	2	771	2	ANGPTL6	19	10205540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4847	10205540	48923443	17899	25611											
PPAN	56342	broad.mit.edu	37	chr19	10224727	10224727	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcgacccaagcacgcCtgggccgtgagcgctgccgg	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10224727C>A	ENST00000556468.1	+	13	1725	c.1698C>A	c.(1696-1698)gcC>gcA	p.A566A	PPAN-P2RY11_ENST00000428358.1_3'UTR|P2RY11_ENST00000321826.4_Silent_p.A146A|PPAN-P2RY11_ENST00000393796.4_Silent_p.A566A					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCAAGCACGCCTGGGCCGTGA	0.677													False	0	False	19:10224727	0	A	10224727	C	A	10224727	2	1	88	1	0	0	0	0	0	0	0	1	12357	668	24	3		3	PPAN	19	10224727	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19187	10224727	48904256	17900	25612											
PPAN	56342	broad.mit.edu	37	chr19	10225213	10225213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctaccaggtgatgcggggCctcatgcccctggccttctg	14	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10225213C>T	ENST00000556468.1	+	13	2211	c.2184C>T	c.(2182-2184)ggC>ggT	p.G728G	PPAN-P2RY11_ENST00000428358.1_3'UTR|P2RY11_ENST00000321826.4_Silent_p.G308G|PPAN-P2RY11_ENST00000393796.4_Silent_p.G728G					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGATGCGGGGCCTCATGCCCC	0.687													False	0	True	19:10225213	0	T	10225213	C	T	10225213	2	4	88	1	0	0	0	0	0	0	0	1	12357	726	26	2		2	PPAN	19	10225213	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	486	10225213	48903770	17901	25613											
PPAN	56342	broad.mit.edu	37	chr19	10225276	10225276	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcagtgcccagcctgggCtgctgctgccgacactgccc	13	18	0	0	rs143410132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10225276C>T	ENST00000556468.1	+	13	2274	c.2247C>T	c.(2245-2247)ggC>ggT	p.G749G	PPAN-P2RY11_ENST00000428358.1_3'UTR|P2RY11_ENST00000321826.4_Silent_p.G329G|PPAN-P2RY11_ENST00000393796.4_Silent_p.G749G					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCAGCCTGGGCTGCTGCTGCC	0.672													False	0	True	19:10225276	0	T	10225276	C	T	10225276	2	4	88	1	0	0	0	0	0	0	0	1	12357	784	28	2		2	PPAN	19	10225276	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63	10225276	48903707	17902	25614											
EIF3G	8666	broad.mit.edu	37	chr19	10226166	10226166	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtcttacttggcccactcGacgttgaggatgaggtggtc	14	9	1	2	rs149739513	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10226166G>A	ENST00000253108.4	-	10	978	c.936C>T	c.(934-936)gtC>gtT	p.V312V		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	312	RRM.					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TGGCCCACTCGACGTTGAGGA	0.627													False	0	False	19:10226166	0	A	10226166	G	A	10226166	2	1	88	1	0	0	0	0	0	0	0	1	5049	1045	37	1		1	EIF3G	19	10226166	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	890	10226166	48902817	17903	25615											
ICAM1	3383	broad.mit.edu	37	chr19	10385700	10385700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaaaaccttcctcaccgtGtactgtgagtaactgagccc	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10385700G>A	ENST00000264832.3	+	2	652	c.327G>A	c.(325-327)gtG>gtA	p.V109V	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	109					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	TCCTCACCGTGTACTGTGAGT	0.552													False	0	False	19:10385700	0	A	10385700	G	A	10385700	2	1	88	1	0	0	0	0	0	0	0	1	7529	1364	48	2		2	ICAM1	19	10385700	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159534	10385700	48743283	17904	25616											
ICAM1	3383	broad.mit.edu	37	chr19	10394718	10394718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccctagtcctgccagCgactcccccacaacttgtca	5	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10394718C>T	ENST00000264832.3	+	4	972	c.647C>T	c.(646-648)gCg>gTg	p.A216V	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	216					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GTCCTGCCAGCGACTCCCCCA	0.627													False	0	False	19:10394718	0	T	10394718	C	T	10394718	3	4	88	1	0	0	0	0	1	0	0	0	7529	768	27	1	661	1	ICAM1	19	10394718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9018	10394718	48734265	17905	25617											
ICAM1	3383	broad.mit.edu	37	chr19	10395085	10395085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcctattccaggctttcCggcgcccaacgtgattctga	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10395085C>T	ENST00000264832.3	+	5	1257	c.932C>T	c.(931-933)cCg>cTg	p.P311L	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Missense_Mutation_p.P89L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	311					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	p.P311L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCAGGCTTTCCGGCGCCCAAC	0.612													False	0	False	19:10395085	0	T	10395085	C	T	10395085	3	4	88	1	0	0	0	0	1	0	0	0	7529	652	23	1	950	1	ICAM1	19	10395085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367	10395085	48733898	17906	25618											
ICAM5	7087	broad.mit.edu	37	chr19	10402269	10402269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccgggccccgtgcgagcCtcacgctgaccctgctgcgg	15	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10402269C>T	ENST00000221980.4	+	3	520	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	153	Ig-like C2-type 2.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCGTGCGAGCCTCACGCTGAC	0.721													False	0	False	19:10402269	0	T	10402269	C	T	10402269	3	4	88	1	0	0	0	0	1	0	0	0	7533	681	24	2	467	2	ICAM5	19	10402269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7184	10402269	48726714	17907	25619											
ICAM5	7087	broad.mit.edu	37	chr19	10404950	10404950	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtctgcaacgccaccaAccgccacggctccgtggcca	9	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10404950A>G	ENST00000221980.4	+	8	2009	c.1946A>G	c.(1945-1947)aAc>aGc	p.N649S		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	649	Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AACGCCACCAACCGCCACGGC	0.682													False	0	False	19:10404950	0	G	10404950	A	G	10404950	3	3	88	1	0	0	0	0	1	0	0	0	7533	43	2	4	1976	4	ICAM5	19	10404950	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2681	10404950	48724033	17908	25620											
ICAM5	7087	broad.mit.edu	37	chr19	10406086	10406086	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgcgcccaggaggaaacttCacgttgacctgccgcgcgga	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10406086C>T	ENST00000221980.4	+	10	2358	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	765	Ig-like C2-type 9.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGGAAACTTCACGTTGACCT	0.687													False	0	False	19:10406086	0	T	10406086	C	T	10406086	2	4	88	1	0	0	0	0	0	0	0	1	7533	825	29	2		2	ICAM5	19	10406086	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1136	10406086	48722897	17909	25621											
RAVER1	125950	broad.mit.edu	37	chr19	10434065	10434065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcaccgtggcctgggcagCgatgagagcggccagcatac	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10434065C>T	ENST00000293677.6	-	4	1066	c.985G>A	c.(985-987)Gct>Act	p.A329T		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	312	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GCCTGGGCAGCGATGAGAGCG	0.721													False	0	False	19:10434065	0	T	10434065	C	T	10434065	3	4	88	1	0	0	0	0	1	0	0	0	13173	768	27	1	1325	1	RAVER1	19	10434065	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27979	10434065	48694918	17910	25622											
ICAM3	3385	broad.mit.edu	37	chr19	10444592	10444592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgcatagacgtgagggGcagataggtgctctcctccc	14	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10444592G>A	ENST00000589261.1	-	7	1886	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	ICAM3_ENST00000160262.5_Missense_Mutation_p.P529S			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	529	Ig-like C2-type 5.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GACGTGAGGGGCAGATAGGTG	0.587													False	0	True	19:10444592	0	A	10444592	G	A	10444592	3	1	88	1	0	0	0	0	1	0	0	0	7531	1203	42	2	62	2	ICAM3	19	10444592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10527	10444592	48684391	17911	25623											
ICAM3	3385	broad.mit.edu	37	chr19	10444960	10444960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggcacctcccggctggaGccttccttcaaacaccgcag	9	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10444960G>A	ENST00000589261.1	-	6	1618	c.1086C>T	c.(1084-1086)ggC>ggT	p.G362G	ICAM3_ENST00000160262.5_Silent_p.G439G			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	439	Ig-like C2-type 4.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCCGGCTGGAGCCTTCCTTCA	0.567													False	0	True	19:10444960	0	A	10444960	G	A	10444960	2	1	88	1	0	0	0	0	0	0	0	1	7531	958	34	2		2	ICAM3	19	10444960	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	368	10444960	48684023	17912	25624											
TYK2	7297	broad.mit.edu	37	chr19	10472585	10472585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgccctccactcgcaggCggccctcatacacgttggtc	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10472585C>T	ENST00000525621.1	-	13	2301	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	TYK2_ENST00000524462.1_Missense_Mutation_p.R422H|TYK2_ENST00000264818.6_Missense_Mutation_p.R607H|TYK2_ENST00000529370.1_Missense_Mutation_p.R607H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	607	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CACTCGCAGGCGGCCCTCATA	0.632													False	0	False	19:10472585	0	T	10472585	C	T	10472585	3	4	88	1	0	0	0	0	1	0	0	0	16894	768	27	1	1795	1	TYK2	19	10472585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27625	10472585	48656398	17913	25625											
CDC37	11140	broad.mit.edu	37	chr19	10505909	10505909	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaaagctccactcacctcctCcacctctaggtcaatgcacc	5	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10505909C>A	ENST00000222005.2	-	4	651	c.598G>T	c.(598-600)Gag>Tag	p.E200*		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	200					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTCACCTCCTCCACCTCTAGG	0.567													False	0	False	19:10505909	0	A	10505909	C	A	10505909	4	1	88	1	0	0	0	0	0	1	0	0	3091	864	30	3	558	3	CDC37	19	10505909	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33324	10505909	48623074	17914	25626											
CDC37	11140	broad.mit.edu	37	chr19	10506754	10506754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccagctctgccttgccGccctcggccacctccagctc	8	22	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10506754G>A	ENST00000222005.2	-	2	281	c.228C>T	c.(226-228)ggC>ggT	p.G76G		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	76					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTGCCTTGCCGCCCTCGGCCA	0.652													False	0	True	19:10506754	0	A	10506754	G	A	10506754	2	1	88	1	0	0	0	0	0	0	0	1	3091	1074	38	1		1	CDC37	19	10506754	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	845	10506754	48622229	17915	25627											
PDE4A	5141	broad.mit.edu	37	chr19	10572664	10572664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgctagataactactccGaccgcatccaggtgccccca	7	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10572664G>A	ENST00000380702.2	+	14	1666	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	PDE4A_ENST00000293683.5_Missense_Mutation_p.D552N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D556N|PDE4A_ENST00000352831.6_Missense_Mutation_p.D578N|PDE4A_ENST00000440014.2_Missense_Mutation_p.D517N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D339N			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	578	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	TAACTACTCCGACCGCATCCA	0.587													False	0	False	19:10572664	0	A	10572664	G	A	10572664	3	1	88	1	0	0	0	0	1	0	0	0	11707	1058	37	1	2239	1	PDE4A	19	10572664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65910	10572664	48556319	17916	25628											
PDE4A	5141	broad.mit.edu	37	chr19	10578270	10578270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactcccagctcctggtggCggggggtcaggtggagaccc	17	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10578270C>T	ENST00000380702.2	+	16	2568	c.2568C>T	c.(2566-2568)ggC>ggT	p.G856G	PDE4A_ENST00000293683.5_Silent_p.G852G|PDE4A_ENST00000592685.1_Silent_p.G856G|PDE4A_ENST00000352831.6_Silent_p.G878G|PDE4A_ENST00000440014.2_Silent_p.G817G|PDE4A_ENST00000344979.3_Silent_p.G639G			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	878					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CTCCTGGTGGCGGGGGGTCAG	0.662													False	0	True	19:10578270	0	T	10578270	C	T	10578270	2	4	88	1	0	0	0	0	0	0	0	1	11707	755	27	1		1	PDE4A	19	10578270	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5606	10578270	48550713	17917	25629											
KEAP1	9817	broad.mit.edu	37	chr19	10599948	10599948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggctacgaaagtccacGtctctgtttccacatcgtag	11	11	1	0	rs111830952		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10599948G>A	ENST00000171111.5	-	5	2175	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	KEAP1_ENST00000393623.2_Missense_Mutation_p.T543M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GAAAGTCCACGTCTCTGTTTC	0.602													False	0	False	19:10599948	0	A	10599948	G	A	10599948	3	1	88	1	0	0	0	0	1	0	0	0	8191	1145	40	1	254	1	KEAP1	19	10599948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21678	10599948	48529035	17918	25630											
S1PR5	53637	broad.mit.edu	37	chr19	10625429	10625429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttggcggcgtaggcggCgcctgccagcagatccgaca	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10625429C>T	ENST00000439028.3	-	2	384	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	S1PR5_ENST00000333430.4_Missense_Mutation_p.A87T	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	87						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						GCGTAGGCGGCGCCTGCCAGC	0.662													False	0	False	19:10625429	0	T	10625429	C	T	10625429	3	4	88	1	0	0	0	0	1	0	0	0	13876	768	27	1	941	1	S1PR5	19	10625429	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25481	10625429	48503554	17919	25631											
ATG4D	84971	broad.mit.edu	37	chr19	10657740	10657740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcttgggcagagctcagGcaagaaggcaggtgactggt	18	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10657740G>A	ENST00000309469.4	+	4	892	c.719G>A	c.(718-720)gGc>gAc	p.G240D	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	240					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CAGAGCTCAGGCAAGAAGGCA	0.657													False	0	False	19:10657740	0	A	10657740	G	A	10657740	3	1	88	1	0	0	0	0	1	0	0	0	1103	1203	42	2	733	2	ATG4D	19	10657740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32311	10657740	48471243	17920	25632											
KRI1	65095	broad.mit.edu	37	chr19	10672384	10672384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccacataactttgcgaCgatgtctcctgcagagaggg	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10672384C>T	ENST00000312962.6	-	6	484	c.465G>A	c.(463-465)tcG>tcA	p.S155S	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.S151S	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	155	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AACTTTGCGACGATGTCTCCT	0.607													False	0	False	19:10672384	0	T	10672384	C	T	10672384	2	4	88	1	0	0	0	0	0	0	0	1	8494	523	19	1		1	KRI1	19	10672384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14644	10672384	48456599	17921	25633											
SLC44A2	57153	broad.mit.edu	37	chr19	10746125	10746125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcctgtccacttccaaCgaagcggtctataagatctt	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10746125C>T	ENST00000586078.1	+	14	1276	c.1167C>T	c.(1165-1167)aaC>aaT	p.N389N	SLC44A2_ENST00000335757.5_Silent_p.N389N|SLC44A2_ENST00000407327.4_Silent_p.N387N	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	389					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCACTTCCAACGAAGCGGTCT	0.552													False	0	False	19:10746125	0	T	10746125	C	T	10746125	2	4	88	1	0	0	0	0	0	0	0	1	14716	535	19	1		1	SLC44A2	19	10746125	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73741	10746125	48382858	17922	25634											
SLC44A2	57153	broad.mit.edu	37	chr19	10748582	10748582	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcggccaggaatgccttcttCctgctcatgagaaacatcat	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10748582C>T	ENST00000586078.1	+	18	1855	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	SLC44A2_ENST00000335757.5_Silent_p.F582F|SLC44A2_ENST00000407327.4_Silent_p.F580F|SLC44A2_ENST00000588214.1_3'UTR	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	582					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATGCCTTCTTCCTGCTCATGA	0.572													False	0	False	19:10748582	0	T	10748582	C	T	10748582	2	4	88	1	0	0	0	0	0	0	0	1	14716	854	30	2		2	SLC44A2	19	10748582	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2457	10748582	48380401	17923	25635											
ILF3	3609	broad.mit.edu	37	chr19	10781680	10781680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatttttgtgaatgatgacCgccatgtgatggcaaagcat	11	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10781680C>T	ENST00000449870.1	+	3	351	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	ILF3_ENST00000589998.1_Missense_Mutation_p.R12C|ILF3_ENST00000592763.1_Missense_Mutation_p.R12C|ILF3_ENST00000588657.1_Missense_Mutation_p.R12C|ILF3_ENST00000420083.1_Missense_Mutation_p.R12C|ILF3_ENST00000407004.3_Missense_Mutation_p.R12C|ILF3_ENST00000590261.1_Missense_Mutation_p.R12C|ILF3_ENST00000318511.3_Missense_Mutation_p.R12C|ILF3_ENST00000250241.8_Missense_Mutation_p.R12C	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	12					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GAATGATGACCGCCATGTGAT	0.468													False	0	False	19:10781680	0	T	10781680	C	T	10781680	3	4	88	1	0	0	0	0	1	0	0	0	7762	652	23	1	40	1	ILF3	19	10781680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33098	10781680	48347303	17924	25636											
ILF3	3609	broad.mit.edu	37	chr19	10787961	10787961	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcccctgttgtcagagaAgaaatggagaaagtattagc	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10787961A>C	ENST00000449870.1	+	5	851	c.534A>C	c.(532-534)gaA>gaC	p.E178D	ILF3_ENST00000589998.1_Missense_Mutation_p.E178D|ILF3_ENST00000592763.1_Missense_Mutation_p.E178D|ILF3_ENST00000588657.1_Missense_Mutation_p.E178D|ILF3_ENST00000420083.1_Missense_Mutation_p.E178D|ILF3_ENST00000407004.3_Missense_Mutation_p.E178D|ILF3_ENST00000590261.1_Missense_Mutation_p.E178D|ILF3_ENST00000318511.3_Missense_Mutation_p.E178D|ILF3_ENST00000250241.8_Missense_Mutation_p.E178D	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	178	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TTGTCAGAGAAGAAATGGAGA	0.463													False	0	False	19:10787961	0	C	10787961	A	C	10787961	3	2	88	1	0	0	0	0	1	0	0	0	7762	69	3	4	548	4	ILF3	19	10787961	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6281	10787961	48341022	17925	25637											
ILF3	3609	broad.mit.edu	37	chr19	10794144	10794144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagcttttccctgacaccCctctcgcccttgatgccaac	5	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10794144C>T	ENST00000449870.1	+	15	2106	c.1789C>T	c.(1789-1791)Cct>Tct	p.P597S	ILF3_ENST00000589998.1_Missense_Mutation_p.P593S|ILF3_ENST00000592763.1_Missense_Mutation_p.P597S|ILF3_ENST00000588657.1_Missense_Mutation_p.P597S|ILF3_ENST00000420083.1_Missense_Mutation_p.P593S|ILF3_ENST00000407004.3_Missense_Mutation_p.P597S|ILF3_ENST00000590261.1_Missense_Mutation_p.P593S|ILF3_ENST00000318511.3_Missense_Mutation_p.P593S|ILF3_ENST00000250241.8_Missense_Mutation_p.P593S	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	593					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCCTGACACCCCTCTCGCCCT	0.542													False	0	True	19:10794144	0	T	10794144	C	T	10794144	3	4	88	1	0	0	0	0	1	0	0	0	7762	623	22	2	1843	2	ILF3	19	10794144	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6183	10794144	48334839	17926	25638											
DNM2	1785	broad.mit.edu	37	chr19	10893745	10893745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcccacccggcctaccgGcacatggccgaccgcatggg	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10893745G>A	ENST00000314646.5	+	6	962	c.798G>A	c.(796-798)cgG>cgA	p.R266R	DNM2_ENST00000359692.6_Silent_p.R266R|DNM2_ENST00000585892.1_Silent_p.R266R|DNM2_ENST00000389253.4_Silent_p.R266R|DNM2_ENST00000408974.4_Silent_p.R266R|DNM2_ENST00000355667.6_Silent_p.R266R			P50570	DYN2_HUMAN	dynamin 2	266					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGGCCTACCGGCACATGGCCG	0.592			"F, N, Splice, Mis, O"		ETP ALL								False	0	False	19:10893745	0	A	10893745	G	A	10893745	2	1	88	1	0	0	0	0	0	0	0	1	4702	1190	42	2		2	DNM2	19	10893745	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99601	10893745	48235238	17927	25639											
DNM2	1785	broad.mit.edu	37	chr19	10934554	10934554	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgttcctccgagctggCgtctaccccgagaaggacca	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10934554C>T	ENST00000314646.5	+	17	2036	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	DNM2_ENST00000359692.6_Silent_p.G620G|DNM2_ENST00000585892.1_Silent_p.G624G|DNM2_ENST00000389253.4_Silent_p.G624G|DNM2_ENST00000408974.4_Silent_p.G620G|DNM2_ENST00000355667.6_Silent_p.G624G			P50570	DYN2_HUMAN	dynamin 2	624	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCCGAGCTGGCGTCTACCCCG	0.662			"F, N, Splice, Mis, O"		ETP ALL								False	0	False	19:10934554	0	T	10934554	C	T	10934554	2	4	88	1	0	0	0	0	0	0	0	1	4702	755	27	1		1	DNM2	19	10934554	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40809	10934554	48194429	17928	25640											
DNM2	1785	broad.mit.edu	37	chr19	10940946	10940946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcccccaatcccatcccGgcctggaccccagagcgtgt	11	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10940946G>A	ENST00000314646.5	+	20	2599	c.2435G>A	c.(2434-2436)cGg>cAg	p.R812Q	DNM2_ENST00000359692.6_Missense_Mutation_p.R808Q|DNM2_ENST00000585892.1_Missense_Mutation_p.R812Q|DNM2_ENST00000389253.4_Missense_Mutation_p.R812Q|DNM2_ENST00000408974.4_Missense_Mutation_p.R808Q|DNM2_ENST00000355667.6_Missense_Mutation_p.R812Q			P50570	DYN2_HUMAN	dynamin 2	812	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ATCCCATCCCGGCCTGGACCC	0.697			"F, N, Splice, Mis, O"		ETP ALL								False	0	True	19:10940946	0	A	10940946	G	A	10940946	3	1	88	1	0	0	0	0	1	0	0	0	4702	1116	39	1	2656	1	DNM2	19	10940946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6392	10940946	48188037	17929	25641											
CARM1	10498	broad.mit.edu	37	chr19	11019791	11019791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttccagttttatggctacCtgtcccagcagcagaacatg	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11019791C>A	ENST00000327064.4	+	4	656	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	CARM1_ENST00000344150.4_Missense_Mutation_p.L156M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	156					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTATGGCTACCTGTCCCAGCA	0.597													False	0	False	19:11019791	0	A	11019791	C	A	11019791	3	1	88	1	0	0	0	0	1	0	0	0	2675	680	24	3	480	3	CARM1	19	11019791	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78845	11019791	48109192	17930	25642											
CARM1	10498	broad.mit.edu	37	chr19	11024705	11024705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctggagagctacctccaCgccaagaagtacctgaagcc	10	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11024705C>T	ENST00000327064.4	+	6	1012	c.822C>T	c.(820-822)caC>caT	p.H274H	CARM1_ENST00000344150.4_Silent_p.H274H	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	274					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCTACCTCCACGCCAAGAAGT	0.637													False	0	False	19:11024705	0	T	11024705	C	T	11024705	2	4	88	1	0	0	0	0	0	0	0	1	2675	535	19	1		1	CARM1	19	11024705	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4914	11024705	48104278	17931	25643											
YIPF2	78992	broad.mit.edu	37	chr19	11034236	11034236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcactgtggccaccaGcctggtgtcctcacggacca	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11034236G>T	ENST00000586748.1	-	8	941	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	YIPF2_ENST00000590329.1_Missense_Mutation_p.L218M|YIPF2_ENST00000253031.2_Missense_Mutation_p.L257M			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	257						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GTGGCCACCAGCCTGGTGTCC	0.692													False	0	False	19:11034236	0	T	11034236	G	T	11034236	3	4	88	1	0	0	0	0	1	0	0	0	17562	962	34	3	189	3	YIPF2	19	11034236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9531	11034236	48094747	17932	25644											
YIPF2	78992	broad.mit.edu	37	chr19	11034607	11034607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacacccttgcgccaccGcaggaagccccacagggcca	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11034607G>A	ENST00000586748.1	-	7	725	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	YIPF2_ENST00000590329.1_Missense_Mutation_p.R146W|YIPF2_ENST00000253031.2_Missense_Mutation_p.R185W			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	185						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						TTGCGCCACCGCAGGAAGCCC	0.637													False	0	False	19:11034607	0	A	11034607	G	A	11034607	3	1	88	1	0	0	0	0	1	0	0	0	17562	1086	38	1	409	1	YIPF2	19	11034607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	371	11034607	48094376	17933	25645											
SMARCA4	6597	broad.mit.edu	37	chr19	11105645	11105645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaagaaagagaacgagCggatcgagaaggagcgcatg	16	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11105645C>T	ENST00000358026.2	+	9	1845	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	SMARCA4_ENST00000450717.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R521W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R521W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R521W	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	521	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGAGAACGAGCGGATCGAGAA	0.567			"F, N, Mis"		NSCLC								False	0	False	19:11105645	0	T	11105645	C	T	11105645	3	4	88	1	0	0	0	0	1	0	0	0	14850	759	27	1	1591	1	SMARCA4	19	11105645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71038	11105645	48023338	17934	25646											
SMARCA4	6597	broad.mit.edu	37	chr19	11107017	11107017	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggcagcacaaggctgcCcaggtcgccaaggagaaaaa	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11107017C>A	ENST00000358026.2	+	10	2006	c.1722C>A	c.(1720-1722)gcC>gcA	p.A574A	SMARCA4_ENST00000450717.3_Silent_p.A574A|SMARCA4_ENST00000429416.3_Silent_p.A574A|SMARCA4_ENST00000413806.3_Silent_p.A574A|SMARCA4_ENST00000444061.3_Silent_p.A574A|SMARCA4_ENST00000344626.4_Silent_p.A574A|SMARCA4_ENST00000541122.2_Silent_p.A574A|SMARCA4_ENST00000590574.1_Silent_p.A574A|SMARCA4_ENST00000589677.1_Silent_p.A574A	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	574					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(3)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACAAGGCTGCCCAGGTCGCCa	0.592			"F, N, Mis"		NSCLC								False	0	True	19:11107017	0	A	11107017	C	A	11107017	2	1	88	1	0	0	0	0	0	0	0	1	14850	610	22	3		3	SMARCA4	19	11107017	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1372	11107017	48021966	17935	25647											
SMARCA4	6597	broad.mit.edu	37	chr19	11134266	11134266	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcggcccttcttgctcCgacgactcaagaaggaagtc	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11134266C>T	ENST00000358026.2	+	20	3216	c.2932C>T	c.(2932-2934)Cga>Tga	p.R978*	SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.R978*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	978					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTTCTTGCTCCGACGACTCAA	0.572			"F, N, Mis"		NSCLC								False	0	False	19:11134266	0	T	11134266	C	T	11134266	4	4	88	1	0	0	0	0	0	1	0	0	14850	644	23	1	3006	1	SMARCA4	19	11134266	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27249	11134266	47994717	17936	25648											
SMARCA4	6597	broad.mit.edu	37	chr19	11144146	11144146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagtcctccagccatgagCggcgcgccttcctgcaggcc	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11144146C>T	ENST00000358026.2	+	26	4011	c.3727C>T	c.(3727-3729)Cgg>Tgg	p.R1243W	SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1243W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1243W	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1243	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R1243W(3)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGCCATGAGCGGCGCGCCTT	0.637			"F, N, Mis"		NSCLC								False	0	False	19:11144146	0	T	11144146	C	T	11144146	3	4	88	1	0	0	0	0	1	0	0	0	14850	759	27	1	3825	1	SMARCA4	19	11144146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9880	11144146	47984837	17937	25649											
SMARCA4	6597	broad.mit.edu	37	chr19	11152114	11152114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcagccgcgacaaggaCgacgagagcaagaagcagaa	13	12	0	3	rs146747026		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11152114C>T	ENST00000358026.2	+	31	4682	c.4398C>T	c.(4396-4398)gaC>gaT	p.D1466D	SMARCA4_ENST00000450717.3_Silent_p.D1404D|SMARCA4_ENST00000429416.3_Silent_p.D1434D|SMARCA4_ENST00000413806.3_Silent_p.D1404D|SMARCA4_ENST00000444061.3_Silent_p.D1401D|SMARCA4_ENST00000344626.4_Silent_p.D1434D|SMARCA4_ENST00000541122.2_Silent_p.D1404D|SMARCA4_ENST00000590574.1_Silent_p.D1401D|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000589677.1_Silent_p.D1404D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1434					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGACAAGGACGACGAGAGCA	0.612			"F, N, Mis"		NSCLC								False	0	False	19:11152114	0	T	11152114	C	T	11152114	2	4	88	1	0	0	0	0	0	0	0	1	14850	535	19	1		1	SMARCA4	19	11152114	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7968	11152114	47976869	17938	25650											
SMARCA4	6597	broad.mit.edu	37	chr19	11170476	11170476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtcttcaccagcgtgcgGcagaaaatcgagaaggagga	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11170476G>A	ENST00000358026.2	+	34	5063	c.4779G>A	c.(4777-4779)cgG>cgA	p.R1593R	SMARCA4_ENST00000450717.3_Silent_p.R1530R|SMARCA4_ENST00000429416.3_Silent_p.R1561R|SMARCA4_ENST00000413806.3_Silent_p.R1531R|SMARCA4_ENST00000444061.3_Silent_p.R1527R|SMARCA4_ENST00000344626.4_Silent_p.R1561R|SMARCA4_ENST00000541122.2_Silent_p.R1531R|SMARCA4_ENST00000590574.1_Silent_p.R1528R|SMARCA4_ENST00000589677.1_Silent_p.R1530R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1561					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCAGCGTGCGGCAGAAAATCg	0.602			"F, N, Mis"		NSCLC								False	0	False	19:11170476	0	A	11170476	G	A	11170476	2	1	88	1	0	0	0	0	0	0	0	1	14850	1190	42	2		2	SMARCA4	19	11170476	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18362	11170476	47958507	17939	25651											
SMARCA4	6597	broad.mit.edu	37	chr19	11170509	11170509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaggatgacagtgaaggCgaggagagtgaggaggagga	21	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11170509C>T	ENST00000358026.2	+	34	5096	c.4812C>T	c.(4810-4812)ggC>ggT	p.G1604G	SMARCA4_ENST00000450717.3_Silent_p.G1541G|SMARCA4_ENST00000429416.3_Silent_p.G1572G|SMARCA4_ENST00000413806.3_Silent_p.G1542G|SMARCA4_ENST00000444061.3_Silent_p.G1538G|SMARCA4_ENST00000344626.4_Silent_p.G1572G|SMARCA4_ENST00000541122.2_Silent_p.G1542G|SMARCA4_ENST00000590574.1_Silent_p.G1539G|SMARCA4_ENST00000589677.1_Silent_p.G1541G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1572					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				acagtgaaggcgaggagagtg	0.607			"F, N, Mis"		NSCLC								False	0	False	19:11170509	0	T	11170509	C	T	11170509	2	4	88	1	0	0	0	0	0	0	0	1	14850	755	27	1		1	SMARCA4	19	11170509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	11170509	47958474	17940	25652											
KANK2	25959	broad.mit.edu	37	chr19	11303618	11303618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaccacctcctggctgcGgaacacaggtgggctctcag	11	16	1	0	rs144821191	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11303618G>A	ENST00000432929.2	-	4	1498	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	KANK2_ENST00000355150.5_Missense_Mutation_p.R380C|KANK2_ENST00000589894.1_Missense_Mutation_p.R380C|KANK2_ENST00000589359.1_Missense_Mutation_p.R380C|KANK2_ENST00000586659.1_Missense_Mutation_p.R380C	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	380										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCCTGGCTGCGGAACACAGGT	0.642													False	0	False	19:11303618	0	A	11303618	G	A	11303618	3	1	88	1	0	0	0	0	1	0	0	0	8027	1116	39	1	1481	1	KANK2	19	11303618	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133109	11303618	47825365	17941	25653											
KANK2	25959	broad.mit.edu	37	chr19	11303796	11303796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcggaccgggctgtccggCggtggccaggcctggggctg	20	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11303796C>T	ENST00000432929.2	-	4	1320	c.960G>A	c.(958-960)ccG>ccA	p.P320P	KANK2_ENST00000355150.5_Silent_p.P320P|KANK2_ENST00000589894.1_Silent_p.P320P|KANK2_ENST00000589359.1_Silent_p.P320P|KANK2_ENST00000586659.1_Silent_p.P320P	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	320										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGCTGTCCGGCGGTGGCCAGG	0.726													False	0	False	19:11303796	0	T	11303796	C	T	11303796	2	4	88	1	0	0	0	0	0	0	0	1	8027	755	27	1		1	KANK2	19	11303796	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178	11303796	47825187	17942	25654											
DOCK6	57572	broad.mit.edu	37	chr19	11326479	11326479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtatgtcaccctcttaccaCgacttcgccgaaccatttct	6	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11326479C>T	ENST00000294618.7	-	31	4030	c.4019G>A	c.(4018-4020)cGt>cAt	p.R1340H	DOCK6_ENST00000319867.7_Missense_Mutation_p.R679H|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1340					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTCTTACCACGACTTCGCCG	0.542													False	0	False	19:11326479	0	T	11326479	C	T	11326479	3	4	88	1	0	0	0	0	1	0	0	0	4721	536	19	1	2196	1	DOCK6	19	11326479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22683	11326479	47802504	17943	25655											
DOCK6	57572	broad.mit.edu	37	chr19	11361633	11361633	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attgcgccggtccacatcttCtggggccgcccgctctagca	11	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11361633C>A	ENST00000294618.7	-	6	648	c.637G>T	c.(637-639)Gaa>Taa	p.E213*		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	213					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCCACATCTTCTGGGGCCGCC	0.652													False	0	False	19:11361633	0	A	11361633	C	A	11361633	4	1	88	1	0	0	0	0	0	1	0	0	4721	922	32	3	5678	3	DOCK6	19	11361633	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35154	11361633	47767350	17944	25656											
RAB3D	9545	broad.mit.edu	37	chr19	11436108	11436108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggctggggggctggaGcatcccccacggccgggcct	18	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11436108G>T	ENST00000222120.3	-	5	886	c.626C>A	c.(625-627)gCt>gAt	p.A209D	TSPAN16_ENST00000316737.1_Intron|RAB3D_ENST00000589655.1_Missense_Mutation_p.A209D	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	209					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GGGGGCTGGAGCATCCCCCAC	0.667													False	0	False	19:11436108	0	T	11436108	G	T	11436108	3	4	88	1	0	0	0	0	1	0	0	0	13013	971	34	3	37	3	RAB3D	19	11436108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74475	11436108	47692875	17945	25657											
RAB3D	9545	broad.mit.edu	37	chr19	11447893	11447893	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatggcggtagacggtcttGaccttgaaatcgatgcccac	11	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11447893G>A	ENST00000222120.3	-	2	443	c.183C>T	c.(181-183)gtC>gtT	p.V61V	RAB3D_ENST00000589655.1_Silent_p.V61V	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	61					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AGACGGTCTTGACCTTGAAAT	0.572													False	0	False	19:11447893	0	A	11447893	G	A	11447893	2	1	88	1	0	0	0	0	0	0	0	1	13013	1277	45	2		2	RAB3D	19	11447893	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11785	11447893	47681090	17946	25658											
CCDC159	126075	broad.mit.edu	37	chr19	11465331	11465331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgactgtgaccaggacctctCccagccacctttcagcaaga	8	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11465331C>T	ENST00000588790.1	+	12	1295	c.848C>T	c.(847-849)tCc>tTc	p.S283F	CCDC159_ENST00000458408.1_Missense_Mutation_p.S283F			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	398										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CAGGACCTCTCCCAGCCACCT	0.652													False	0	True	19:11465331	0	T	11465331	C	T	11465331	3	4	88	1	0	0	0	0	1	0	0	0	2812	855	30	2	886	2	CCDC159	19	11465331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17438	11465331	47663652	17947	25659											
EPOR	2057	broad.mit.edu	37	chr19	11492692	11492692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggggcacgaagctcgacGtgtcggctgtaggcagcgaa	16	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11492692G>A	ENST00000592375.2	-	3	445	c.341C>T	c.(340-342)aCg>aTg	p.T114M	EPOR_ENST00000222139.6_Missense_Mutation_p.T114M			P19235	EPOR_HUMAN	erythropoietin receptor	114						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GAAGCTCGACGTGTCGGCTGT	0.622													False	0	False	19:11492692	0	A	11492692	G	A	11492692	3	1	88	1	0	0	0	0	1	0	0	0	5221	1145	40	1	1209	1	EPOR	19	11492692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27361	11492692	47636291	17948	25660											
EPOR	2057	broad.mit.edu	37	chr19	11492759	11492759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtgggagcctggtgcaggcGacacagcttccatggctcat	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11492759G>A	ENST00000592375.2	-	3	378	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	EPOR_ENST00000222139.6_Missense_Mutation_p.R92C			P19235	EPOR_HUMAN	erythropoietin receptor	92						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TGGTGCAGGCGACACAGCTTC	0.672													False	0	False	19:11492759	0	A	11492759	G	A	11492759	3	1	88	1	0	0	0	0	1	0	0	0	5221	1058	37	1	1276	1	EPOR	19	11492759	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	11492759	47636224	17949	25661											
CCDC151	115948	broad.mit.edu	37	chr19	11534583	11534583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggcgtccttgaccttgCcaaagatcacctccatctgg	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11534583C>T	ENST00000356392.4	-	8	1166	c.1079G>A	c.(1078-1080)gGc>gAc	p.G360D	CCDC151_ENST00000586836.1_Missense_Mutation_p.G169D|CCDC151_ENST00000545100.1_Missense_Mutation_p.G306D|CCDC151_ENST00000591179.1_Missense_Mutation_p.G300D	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	360										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CTTGACCTTGCCAAAGATCAC	0.672													False	0	False	19:11534583	0	T	11534583	C	T	11534583	3	4	88	1	0	0	0	0	1	0	0	0	2806	739	26	2	732	2	CCDC151	19	11534583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41824	11534583	47594400	17950	25662											
CCDC151	115948	broad.mit.edu	37	chr19	11534691	11534691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtagcagcaggtgctcgCggtgggtctgctcgtgggtt	17	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11534691C>T	ENST00000356392.4	-	8	1058	c.971G>A	c.(970-972)cGc>cAc	p.R324H	CCDC151_ENST00000586836.1_Missense_Mutation_p.R133H|CCDC151_ENST00000545100.1_Missense_Mutation_p.R270H|CCDC151_ENST00000591179.1_Missense_Mutation_p.R264H	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	324										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CAGGTGCTCGCGGTGGGTCTG	0.662													False	0	False	19:11534691	0	T	11534691	C	T	11534691	3	4	88	1	0	0	0	0	1	0	0	0	2806	768	27	1	840	1	CCDC151	19	11534691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108	11534691	47594292	17951	25663											
PRKCSH	5589	broad.mit.edu	37	chr19	11557939	11557939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacctctttctacgaccgCgtctgggccgccatcaggga	11	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11557939C>T	ENST00000252455.2	+	10	1149	c.813C>T	c.(811-813)cgC>cgT	p.R271R	PRKCSH_ENST00000589838.1_Silent_p.R271R|PRKCSH_ENST00000591462.1_Silent_p.R271R|PRKCSH_ENST00000592741.1_Silent_p.R271R|PRKCSH_ENST00000412601.1_Silent_p.R271R|PRKCSH_ENST00000587327.1_Silent_p.R271R	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	271	EF-hand 2.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TCTACGACCGCGTCTGGGCCG	0.637											OREG0025258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:11557939	0	T	11557939	C	T	11557939	2	4	88	1	0	0	0	0	0	0	0	1	12592	755	27	1		1	PRKCSH	19	11557939	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23248	11557939	47571044	17952	25664											
PRKCSH	5589	broad.mit.edu	37	chr19	11560084	11560084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctgcccatccccaggtgCgcctcctgtgcgggaaagag	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11560084C>T	ENST00000252455.2	+	17	1780	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	PRKCSH_ENST00000589838.1_Missense_Mutation_p.R482C|PRKCSH_ENST00000591462.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000592741.1_Missense_Mutation_p.R489C|PRKCSH_ENST00000412601.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000587327.1_Missense_Mutation_p.R479C	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	482					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TCCCCAGGTGCGCCTCCTGTG	0.692													False	0	False	19:11560084	0	T	11560084	C	T	11560084	3	4	88	1	0	0	0	0	1	0	0	0	12592	768	27	1	1527	1	PRKCSH	19	11560084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2145	11560084	47568899	17953	25665											
ELAVL3	1995	broad.mit.edu	37	chr19	11568960	11568960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgagcagcgcctgccccGtcttctgacttgggttgttc	14	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11568960G>A	ENST00000359227.3	-	5	1053	c.629C>T	c.(628-630)aCg>aTg	p.T210M	ELAVL3_ENST00000438662.2_Missense_Mutation_p.T210M	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	210					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGCCTGCCCCGTCTTCTGACT	0.627													False	0	True	19:11568960	0	A	11568960	G	A	11568960	3	1	88	1	0	0	0	0	1	0	0	0	5083	1145	40	1	486	1	ELAVL3	19	11568960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8876	11568960	47560023	17954	25666											
ELOF1	84337	broad.mit.edu	37	chr19	11664626	11664626	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atccacgggttctgacagatCtgggccacttaggtcaaggg	13	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11664626C>A	ENST00000589171.1	-	4	388	c.192G>T	c.(190-192)caG>caT	p.Q64H	ELOF1_ENST00000591912.1_3'UTR|ELOF1_ENST00000591674.1_Splice_Site|ELOF1_ENST00000586683.1_Intron|ELOF1_ENST00000586120.1_Splice_Site|ELOF1_ENST00000252445.3_Splice_Site|ELOF1_ENST00000587806.1_Splice_Site|ELOF1_ENST00000590700.1_Splice_Site			P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.?(1)		endometrium(3)|lung(2)	5						TCTGACAGATCTGGGCCACTT	0.597													False	0	False	19:11664626	0	A	11664626	C	A	11664626	3	1	88	1	0	0	0	0	1	0	0	0	5104	927	32	3	68	3	ELOF1	19	11664626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95666	11664626	47464357	17955	25667											
ACP5	54	broad.mit.edu	37	chr19	11686037	11686037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcccagccccactcagcaCgtagcccacgccattctcat	5	19	2	0	rs146196342	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11686037C>T	ENST00000592828.1	-	7	1168	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.V256M|ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.V256M|ACP5_ENST00000412435.2_Missense_Mutation_p.V256M	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	256					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CCACTCAGCACGTAGCCCACG	0.587													False	0	False	19:11686037	0	T	11686037	C	T	11686037	3	4	88	1	0	0	0	0	1	0	0	0	164	536	19	1	215	1	ACP5	19	11686037	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21411	11686037	47442946	17956	25668											
ZNF627	199692	broad.mit.edu	37	chr19	11727652	11727652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtggagaagttggcatgGgtccttcatcacttaatagg	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11727652G>T	ENST00000361113.5	+	4	542	c.334G>T	c.(334-336)Ggt>Tgt	p.G112C	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGTTGGCATGGGTCCTTCATC	0.433													False	0	True	19:11727652	0	T	11727652	G	T	11727652	3	4	88	1	0	0	0	0	1	0	0	0	18134	1232	43	3	348	3	ZNF627	19	11727652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41615	11727652	47401331	17957	25669											
ZNF627	199692	broad.mit.edu	37	chr19	11727882	11727882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcgaagacacatgttaacGcataggggaggtgtacctta	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11727882G>A	ENST00000361113.5	+	4	772	c.564G>A	c.(562-564)acG>acA	p.T188T	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACATGTTAACGCATAGGGGAG	0.413													False	0	False	19:11727882	0	A	11727882	G	A	11727882	2	1	88	1	0	0	0	0	0	0	0	1	18134	1074	38	1		1	ZNF627	19	11727882	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230	11727882	47401101	17958	25670											
ZNF441	126068	broad.mit.edu	37	chr19	11892674	11892674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtaaagaatgtggggaaGcatttcattgtatcagttcc	11	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11892674G>A	ENST00000357901.4	+	4	2137	c.2035G>A	c.(2035-2037)Gca>Aca	p.A679T	ZNF441_ENST00000454339.2_Missense_Mutation_p.A612T	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGTGGGGAAGCATTTCATTG	0.393													False	0	False	19:11892674	0	A	11892674	G	A	11892674	3	1	88	1	0	0	0	0	1	0	0	0	17997	971	34	2	2049	2	ZNF441	19	11892674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164792	11892674	47236309	17959	25671											
ZNF491	126069	broad.mit.edu	37	chr19	11917376	11917376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatttttccagttcctttcGcagacatgaaaggacacaca	6	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11917376G>A	ENST00000323169.5	+	3	939	c.608G>A	c.(607-609)cGc>cAc	p.R203H	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGTTCCTTTCGCAGACATGAA	0.438													False	0	False	19:11917376	0	A	11917376	G	A	11917376	3	1	88	1	0	0	0	0	1	0	0	0	18025	1087	38	1	610	1	ZNF491	19	11917376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24702	11917376	47211607	17960	25672											
ZNF440	126070	broad.mit.edu	37	chr19	11942469	11942469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagataccgcccctcctttAgaacacaagaaagggatcac	7	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11942469A>G	ENST00000304060.5	+	4	642	c.478A>G	c.(478-480)Aga>Gga	p.R160G		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCCTCCTTTAGAACACAAGA	0.413													False	0	True	19:11942469	0	G	11942469	A	G	11942469	3	3	88	1	0	0	0	0	1	0	0	0	17996	412	15	4	492	4	ZNF440	19	11942469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25093	11942469	47186514	17961	25673											
ZNF700	90592	broad.mit.edu	37	chr19	12059625	12059625	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaatcctttacttattcTgctacccttcaaatacatga	4	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12059625T>C	ENST00000482090.1	+	3	1150	c.732T>C	c.(730-732)tcT>tcC	p.S244S	ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Silent_p.S262S|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTACTTATTCTGCTACCCTTC	0.358													False	0	False	19:12059625	0	C	12059625	T	C	12059625	2	2	88	1	0	0	0	0	0	0	0	1	18187	1567	55	4		4	ZNF700	19	12059625	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117156	12059625	47069358	17962	25674											
ZNF700	90592	broad.mit.edu	37	chr19	12060148	12060148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacagcttcgagtgcacGgtgggactcacactggagag	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12060148G>A	ENST00000482090.1	+	3	1673	c.1255G>A	c.(1255-1257)Ggt>Agt	p.G419S	ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.G437S|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCGAGTGCACGGTGGGACTCA	0.483													False	0	False	19:12060148	0	A	12060148	G	A	12060148	3	1	88	1	0	0	0	0	1	0	0	0	18187	1116	39	1	1323	1	ZNF700	19	12060148	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	523	12060148	47068835	17963	25675											
ZNF433	163059	broad.mit.edu	37	chr19	12125671	12125671	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcctggggttatggggtgtCtatgcagtgagcccttccat	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12125671C>A	ENST00000419886.2	-	5	2197	c.1906G>T	c.(1906-1908)Gac>Tac	p.D636Y	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.D671Y|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						tatgggGTGTCTATGCAGTGA	0.478													False	0	False	19:12125671	0	A	12125671	C	A	12125671	3	1	88	1	0	0	0	0	1	0	0	0	17990	913	32	3	14	3	ZNF433	19	12125671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65523	12125671	47003312	17964	25676											
ZNF433	163059	broad.mit.edu	37	chr19	12125782	12125782	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgagtccttccatgccttcGaaggtttgagggacatccaa	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12125782G>A	ENST00000419886.2	-	5	2086	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Nonsense_Mutation_p.R634*|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CCATGCCTTCGAAGGTTTGAG	0.443													False	0	False	19:12125782	0	A	12125782	G	A	12125782	4	1	88	1	0	0	0	0	0	1	0	0	17990	1066	37	1	125	1	ZNF433	19	12125782	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	12125782	47003201	17965	25677											
ZNF878	729747	broad.mit.edu	37	chr19	12154660	12154660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcttttgaaggattgagGcagatctaaaggctttacca	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12154660G>A	ENST00000602107.1	-	5	1696	c.1697C>T	c.(1696-1698)gCc>gTc	p.A566V	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.A519V			C9JN71	ZN878_HUMAN	zinc finger protein 878	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAGGATTGAGGCAGATCTAAA	0.403													False	0	False	19:12154660	0	A	12154660	G	A	12154660	3	1	88	1	0	0	0	0	1	0	0	0	18278	1203	42	2	43	2	ZNF878	19	12154660	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28878	12154660	46974323	17966	25678											
ZNF878	729747	broad.mit.edu	37	chr19	12155662	12155662	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttctttcatgtctacgaacaGaactgggaaaactgaatgct	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12155662G>T	ENST00000602107.1	-	5	694	c.695C>A	c.(694-696)tCt>tAt	p.S232Y	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S185Y			C9JN71	ZN878_HUMAN	zinc finger protein 878	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCTACGAACAGAACTGGGAAA	0.398													False	0	False	19:12155662	0	T	12155662	G	T	12155662	3	4	88	1	0	0	0	0	1	0	0	0	18278	942	33	3	1045	3	ZNF878	19	12155662	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1002	12155662	46973321	17967	25679											
ZNF625	90589	broad.mit.edu	37	chr19	12256281	12256281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttccatgtgttcgaaggTgcgaggcagatctgaaggct	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12256281T>C	ENST00000355738.1	-	4	1101	c.752A>G	c.(751-753)cAc>cGc	p.H251R	ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Missense_Mutation_p.H317R|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000542938.1_Missense_Mutation_p.H251R			Q96I27	ZN625_HUMAN	zinc finger protein 625	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TGTTCGAAGGTGCGAGGCAGA	0.433													False	0	False	19:12256281	0	C	12256281	T	C	12256281	3	2	88	1	0	0	0	0	1	0	0	0	18132	1696	59	4	172	4	ZNF625	19	12256281	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	100619	12256281	46872702	17968	25680											
ZNF136	7695	broad.mit.edu	37	chr19	12298401	12298401	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtgggaaaccctttcattCtctgagtccatttcgaatac	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12298401C>A	ENST00000343979.4	+	4	1348	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	ZNF136_ENST00000398616.2_Missense_Mutation_p.S337Y	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	403					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CCCTTTCATTCTCTGAGTCCA	0.383													False	0	False	19:12298401	0	A	12298401	C	A	12298401	3	1	88	1	0	0	0	0	1	0	0	0	17809	913	32	3	1222	3	ZNF136	19	12298401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42120	12298401	46830582	17969	25681											
ZNF136	7695	broad.mit.edu	37	chr19	12298499	12298499	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgtttcttcaacatcaattCgaatacatgaaagaactcat	4	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12298499C>T	ENST00000343979.4	+	4	1446	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R370*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	436					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AACATCAATTCGAATACATGA	0.373													False	0	False	19:12298499	0	T	12298499	C	T	12298499	4	4	88	1	0	0	0	0	0	1	0	0	17809	876	31	1	1320	1	ZNF136	19	12298499	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98	12298499	46830484	17970	25682											
ZNF799	90576	broad.mit.edu	37	chr19	12503438	12503438	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttagatttttcctgggatatCtatattgatcttcaatgttc	6	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12503438C>A	ENST00000419318.1	-	3	823	c.74G>T	c.(73-75)aGa>aTa	p.R25I	CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.R57I|ZNF799_ENST00000595766.1_3'UTR|ZNF799_ENST00000430385.3_Missense_Mutation_p.R57I|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCTGGGATATCTATATTGATC	0.299													False	0	False	19:12503438	0	A	12503438	C	A	12503438	3	1	88	1	0	0	0	0	1	0	0	0	18248	913	32	3	1769	3	ZNF799	19	12503438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204939	12503438	46625545	17971	25683											
ZNF443	10224	broad.mit.edu	37	chr19	12541219	12541219	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttaccacattgtggacaTtcataggatttctctctcat	6	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12541219T>C	ENST00000301547.5	-	4	1964	c.1767A>G	c.(1765-1767)gaA>gaG	p.E589E	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	589					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ATTGTGGACATTCATAGGATT	0.413													False	0	False	19:12541219	0	C	12541219	T	C	12541219	2	2	88	1	0	0	0	0	0	0	0	1	17999	1490	52	4		4	ZNF443	19	12541219	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37781	12541219	46587764	17972	25684											
ZNF443	10224	broad.mit.edu	37	chr19	12541361	12541361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttaagttatcataatgaCcgaaggctttcctacatgtt	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12541361C>T	ENST00000301547.5	-	4	1822	c.1625G>A	c.(1624-1626)gGt>gAt	p.G542D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	542					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ATCATAATGACCGAAGGCTTT	0.403													False	0	False	19:12541361	0	T	12541361	C	T	12541361	3	4	88	1	0	0	0	0	1	0	0	0	17999	507	18	2	394	2	ZNF443	19	12541361	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142	12541361	46587622	17973	25685											
ZNF443	10224	broad.mit.edu	37	chr19	12542335	12542335	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctctccagtgtgcgtTctttcatgcatatgtaataa	8	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12542335T>G	ENST00000301547.5	-	4	848	c.651A>C	c.(649-651)agA>agC	p.R217S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	217					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CAGTGTGCGTTCTTTCATGCA	0.398													False	0	False	19:12542335	0	G	12542335	T	G	12542335	3	3	88	1	0	0	0	0	1	0	0	0	17999	1780	62	4	1368	4	ZNF443	19	12542335	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	974	12542335	46586648	17974	25686											
ZNF443	10224	broad.mit.edu	37	chr19	12543223	12543223	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatatctatattgatcTtcaatgttctggtctttcca	7	8	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12543223T>G	ENST00000301547.5	-	3	356	c.159A>C	c.(157-159)gaA>gaC	p.E53D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	53	KRAB.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TATATTGATCTTCAATGTTCT	0.294													False	0	False	19:12543223	0	G	12543223	T	G	12543223	3	3	88	1	0	0	0	0	1	0	0	0	17999	1606	56	4	1864	4	ZNF443	19	12543223	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	888	12543223	46585760	17975	25687											
ZNF709	163051	broad.mit.edu	37	chr19	12575729	12575729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccacattccttacaatcaTagggtttctctcctgtatga	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12575729T>C	ENST00000397732.3	-	4	1178	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.Y336C	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTACAATCATAGGGTTTCTC	0.358													False	0	False	19:12575729	0	C	12575729	T	C	12575729	3	2	88	1	0	0	0	0	1	0	0	0	18196	1406	49	4	922	4	ZNF709	19	12575729	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32506	12575729	46553254	17976	25688											
ZNF709	163051	broad.mit.edu	37	chr19	12576512	12576512	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaaactgactacctTctttcctttcacagagcctc	3	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12576512T>G	ENST00000397732.3	-	4	395	c.224A>C	c.(223-225)gAa>gCa	p.E75A	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.E75A	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTGACTACCTTCTTTCCTTTC	0.328													False	0	True	19:12576512	0	G	12576512	T	G	12576512	3	3	88	1	0	0	0	0	1	0	0	0	18196	1783	62	4	1705	4	ZNF709	19	12576512	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	783	12576512	46552471	17977	25689											
ZNF564	163050	broad.mit.edu	37	chr19	12638554	12638554	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttgtgtccaaggtgagatCtgatgtgcctactaagggat	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12638554C>A	ENST00000339282.7	-	4	564	c.368G>T	c.(367-369)aGa>aTa	p.R123I	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AAGGTGAGATCTGATGTGCCT	0.383													False	0	False	19:12638554	0	A	12638554	C	A	12638554	3	1	88	1	0	0	0	0	1	0	0	0	18078	913	32	3	1297	3	ZNF564	19	12638554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62042	12638554	46490429	17978	25690											
ZNF490	57474	broad.mit.edu	37	chr19	12692016	12692016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttcgtgggttagaaaaggCtggtaatatataaaggcttt	11	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12692016C>A	ENST00000311437.6	-	5	995	c.873G>T	c.(871-873)caG>caT	p.Q291H		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTAGAAAAGGCTGGTAATATA	0.428													False	0	False	19:12692016	0	A	12692016	C	A	12692016	3	1	88	1	0	0	0	0	1	0	0	0	18024	796	28	3	720	3	ZNF490	19	12692016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53462	12692016	46436967	17979	25691											
ZNF490	57474	broad.mit.edu	37	chr19	12694290	12694290	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcccgcatcacatctctgtaGatattcctctggccaggatc	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12694290G>A	ENST00000311437.6	-	3	365	c.243C>T	c.(241-243)atC>atT	p.I81I		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CATCTCTGTAGATATTCCTCT	0.488													False	0	False	19:12694290	0	A	12694290	G	A	12694290	2	1	88	1	0	0	0	0	0	0	0	1	18024	932	33	2		2	ZNF490	19	12694290	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2274	12694290	46434693	17980	25692											
ZNF791	163049	broad.mit.edu	37	chr19	12738624	12738624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagtgtgacgaagaagaCtgccggagtaaaaccatatg	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12738624C>T	ENST00000343325.4	+	4	443	c.281C>T	c.(280-282)aCt>aTt	p.T94I	ZNF791_ENST00000540038.1_5'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.T62I|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ACGAAGAAGACTGCCGGAGTA	0.443													False	0	False	19:12738624	0	T	12738624	C	T	12738624	3	4	88	1	0	0	0	0	1	0	0	0	18245	565	20	2	295	2	ZNF791	19	12738624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44334	12738624	46390359	17981	25693											
ZNF791	163049	broad.mit.edu	37	chr19	12739034	12739034	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagttgttccagttctAttcgagtacacgaaagaact	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12739034A>T	ENST00000343325.4	+	4	853	c.691A>T	c.(691-693)Att>Ttt	p.I231F	ZNF791_ENST00000540038.1_Missense_Mutation_p.I122F|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.I199F|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TTCCAGTTCTATTCGAGTACA	0.423													False	0	False	19:12739034	0	T	12739034	A	T	12739034	3	4	88	1	0	0	0	0	1	0	0	0	18245	449	16	5	705	5	ZNF791	19	12739034	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	410	12739034	46389949	17982	25694											
MAN2B1	4125	broad.mit.edu	37	chr19	12759192	12759192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccgatactccgcgtccatCgtccttcagcagccttcggt	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12759192C>T	ENST00000456935.2	-	21	2501	c.2461G>A	c.(2461-2463)Gat>Aat	p.D821N	MAN2B1_ENST00000221363.4_Missense_Mutation_p.D820N|CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.R7Q	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	821					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCGCGTCCATCGTCCTTCAGC	0.667													False	0	False	19:12759192	0	T	12759192	C	T	12759192	3	4	88	1	0	0	0	0	1	0	0	0	9283	884	31	1	590	1	MAN2B1	19	12759192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20158	12759192	46369791	17983	25695											
WDR83	84292	broad.mit.edu	37	chr19	12784068	12784068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactgctgcctgagcgagCgtgacacacatgtggtcagc	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12784068C>T	ENST00000418543.3	+	10	1085	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C	WDR83_ENST00000242796.4_Missense_Mutation_p.R246C	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	246					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		p.R246C(1)		breast(2)|large_intestine(1)|lung(1)	4						CCTGAGCGAGCGTGACACACA	0.587													False	0	True	19:12784068	0	T	12784068	C	T	12784068	3	4	88	1	0	0	0	0	1	0	0	0	17416	768	27	1	766	1	WDR83	19	12784068	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24876	12784068	46344915	17984	25696											
DHPS	1725	broad.mit.edu	37	chr19	12790297	12790297	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcccagtaatacacggactCtgggttgttgatctccttgc	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12790297C>A	ENST00000210060.7	-	5	787	c.652G>T	c.(652-654)Gag>Tag	p.E218*	DHPS_ENST00000594424.1_Nonsense_Mutation_p.E176*|DHPS_ENST00000351660.5_Nonsense_Mutation_p.E218*	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	218					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	TACACGGACTCTGGGTTGTTG	0.537													False	0	False	19:12790297	0	A	12790297	C	A	12790297	4	1	88	1	0	0	0	0	0	1	0	0	4515	922	32	3	477	3	DHPS	19	12790297	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6229	12790297	46338686	17985	25697											
FBXW9	84261	broad.mit.edu	37	chr19	12800936	12800936	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccggcttcatgggtgAtgggccggtgaggagggata	20	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12800936A>T	ENST00000380339.3	-	6	998	c.962T>A	c.(961-963)aTc>aAc	p.I321N	FBXW9_ENST00000393261.3_Intron|FBXW9_ENST00000544494.1_Intron|FBXW9_ENST00000587955.1_Missense_Mutation_p.I311N			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	321							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TTCATGGGTGATGGGCCGGTG	0.632													False	0	False	19:12800936	0	T	12800936	A	T	12800936	3	4	88	1	0	0	0	0	1	0	0	0	5811	348	12	5		5	FBXW9	19	12800936	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10639	12800936	46328047	17986	25698											
TNPO2	30000	broad.mit.edu	37	chr19	12812936	12812936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacctcctgggggcacacGtagcccaagcggccgatggt	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12812936G>A	ENST00000425528.1	-	22	2718	c.2361C>T	c.(2359-2361)taC>taT	p.Y787Y	TNPO2_ENST00000588216.1_Silent_p.Y777Y|TNPO2_ENST00000441499.1_Silent_p.Y777Y|TNPO2_ENST00000592287.1_Silent_p.Y787Y|TNPO2_ENST00000450764.2_Silent_p.Y777Y|TNPO2_ENST00000356861.5_Silent_p.Y777Y			O14787	TNPO2_HUMAN	transportin 2	787					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGGGCACACGTAGCCCAAGC	0.677													False	0	False	19:12812936	0	A	12812936	G	A	12812936	2	1	88	1	0	0	0	0	0	0	0	1	16418	1140	40	1		1	TNPO2	19	12812936	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12000	12812936	46316047	17987	25699											
C19orf43	79002	broad.mit.edu	37	chr19	12842217	12842217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagggctagtttgttccCgcctctgcgtttgcccacct	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12842217C>T	ENST00000242784.4	-	2	481	c.364G>A	c.(364-366)Ggg>Agg	p.G122R	C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q|C19orf43_ENST00000592273.1_Intron	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	122										endometrium(2)|large_intestine(2)	4						AGTTTGTTCCCGCCTCTGCGT	0.597													False	0	True	19:12842217	0	T	12842217	C	T	12842217	3	4	88	1	0	0	0	0	1	0	0	0	1941	652	23	1	174	1	C19orf43	19	12842217	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29281	12842217	46286766	17988	25700											
BEST2	54831	broad.mit.edu	37	chr19	12863439	12863439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacagcccgagtggcgaaCgcccgcttcggtggcttctc	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12863439C>T	ENST00000549706.1	+	2	357	c.33C>T	c.(31-33)aaC>aaT	p.N11N	BEST2_ENST00000042931.1_Silent_p.N11N|BEST2_ENST00000553030.1_Silent_p.N11N			Q8NFU1	BEST2_HUMAN	bestrophin 2	11					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GAGTGGCGAACGCCCGCTTCG	0.652													False	0	False	19:12863439	0	T	12863439	C	T	12863439	2	4	88	1	0	0	0	0	0	0	0	1	1409	535	19	1		1	BEST2	19	12863439	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21222	12863439	46265544	17989	25701											
HOOK2	29911	broad.mit.edu	37	chr19	12874525	12874525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgttctcggagctgtgtcCtcagggaatggagttctgga	14	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12874525C>A	ENST00000264827.5	-	20	2059	c.1889G>T	c.(1888-1890)aGg>aTg	p.R630M	HOOK2_ENST00000397668.3_Missense_Mutation_p.R632M	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	632	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GAGCTGTGTCCTCAGGGAATG	0.597													False	0	False	19:12874525	0	A	12874525	C	A	12874525	3	1	88	1	0	0	0	0	1	0	0	0	7330	681	24	3	276	3	HOOK2	19	12874525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11086	12874525	46254458	17990	25702											
HOOK2	29911	broad.mit.edu	37	chr19	12878833	12878833	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacctcagcctcacctccttCtcctttgtcaccgactcata	3	18	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12878833C>A	ENST00000264827.5	-	12	1379	c.1209G>T	c.(1207-1209)gaG>gaT	p.E403D	HOOK2_ENST00000397668.3_Missense_Mutation_p.E403D|HOOK2_ENST00000589965.1_Intron	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	403	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TCACCTCCTTCTCCTTTGTCA	0.587													False	0	True	19:12878833	0	A	12878833	C	A	12878833	3	1	88	1	0	0	0	0	1	0	0	0	7330	912	32	3	998	3	HOOK2	19	12878833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4308	12878833	46250150	17991	25703											
HOOK2	29911	broad.mit.edu	37	chr19	12881839	12881839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctccgcaacctccctcTccagctcggcacagcgcagg	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12881839T>C	ENST00000264827.5	-	10	979	c.809A>G	c.(808-810)gAg>gGg	p.E270G	HOOK2_ENST00000397668.3_Missense_Mutation_p.E270G|HOOK2_ENST00000589965.1_Intron	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	270	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AACCTCCCTCTCCAGCTCGGC	0.667													False	0	True	19:12881839	0	C	12881839	T	C	12881839	3	2	88	1	0	0	0	0	1	0	0	0	7330	1551	54	4	1406	4	HOOK2	19	12881839	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3006	12881839	46247144	17992	25704											
JUNB	3726	broad.mit.edu	37	chr19	12903500	12903500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgaagacgctcaaggcCgagaacgcggggctgtcgag	17	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12903500C>T	ENST00000302754.4	+	1	1191	c.915C>T	c.(913-915)gcC>gcT	p.A305A		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	305	Leucine-zipper.					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CGCTCAAGGCCGAGAACGCGG	0.677													False	0	False	19:12903500	0	T	12903500	C	T	12903500	2	4	88	1	0	0	0	0	0	0	0	1	8020	639	23	1		1	JUNB	19	12903500	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21661	12903500	46225483	17993	25705											
PRDX2	7001	broad.mit.edu	37	chr19	12910731	12910731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgcagagcctcatccacGgagcgtcccacaggcaaatc	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12910731G>A	ENST00000301522.2	-	5	581	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Intron	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	151	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCTCATCCACGGAGCGTCCCA	0.552													False	0	False	19:12910731	0	A	12910731	G	A	12910731	2	1	88	1	0	0	0	0	0	0	0	1	12541	1103	39	1		1	PRDX2	19	12910731	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7231	12910731	46218252	17994	25706											
RNASEH2A	10535	broad.mit.edu	37	chr19	12924273	12924273	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcctggagtcagcaaccaGcctctagcagctgcctctac	10	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12924273G>T	ENST00000221486.4	+	8	987	c.893G>T	c.(892-894)aGc>aTc	p.S298I		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	298					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						TCAGCAACCAGCCTCTAGCAG	0.532													False	0	False	19:12924273	0	T	12924273	G	T	12924273	3	4	88	1	0	0	0	0	1	0	0	0	13491	971	34	3	923	3	RNASEH2A	19	12924273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13542	12924273	46204710	17995	25707											
MAST1	22983	broad.mit.edu	37	chr19	12958425	12958425	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgggcttctctccccgcaGccccgggcgctccccctcct	9	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12958425G>T	ENST00000251472.4	+	6	527		c.e6-1		MAST1_ENST00000591495.1_Splice_Site	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1						cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCTCCCCGCAGCCCCGGGCGC	0.617											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:12958425	0	T	12958425	G	T	12958425	5	4	88	1	0	0	0	0	0	0	1	0	9391	985	34	3	510	3	MAST1	19	12958425	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34152	12958425	46170558	17996	25708											
MAST1	22983	broad.mit.edu	37	chr19	12963203	12963203	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acccctgagcaagacgatctCtctgaggtaaggctgggtgg	14	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12963203C>T	ENST00000251472.4	+	10	1110	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	MAST1_ENST00000591495.1_Silent_p.L353L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	357					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AAGACGATCTCTCTGAGGTAA	0.592													False	0	True	19:12963203	0	T	12963203	C	T	12963203	2	4	88	1	0	0	0	0	0	0	0	1	9391	900	32	2		2	MAST1	19	12963203	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4778	12963203	46165780	17997	25709											
MAST1	22983	broad.mit.edu	37	chr19	12976850	12976850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacctggactggacagggCtgctgaggcagaaggccgag	18	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12976850C>T	ENST00000251472.4	+	17	2002	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	655	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTGGACAGGGCTGCTGAGGCA	0.592													False	0	True	19:12976850	0	T	12976850	C	T	12976850	2	4	88	1	0	0	0	0	0	0	0	1	9391	796	28	2		2	MAST1	19	12976850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13647	12976850	46152133	17998	25710											
MAST1	22983	broad.mit.edu	37	chr19	12977513	12977513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcctatgacgaggatgaCacgacggaggaggagcccgt	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12977513C>T	ENST00000251472.4	+	18	2115	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	692	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACGAGGATGACACGACGGAGG	0.617													False	0	False	19:12977513	0	T	12977513	C	T	12977513	2	4	88	1	0	0	0	0	0	0	0	1	9391	477	17	2		2	MAST1	19	12977513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	663	12977513	46151470	17999	25711											
GCDH	2639	broad.mit.edu	37	chr19	13004378	13004378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggacagtggctacaggtCggcgatgagtgtccagtcct	16	9	0	1	rs139851890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13004378C>T	ENST00000222214.5	+	6	627	c.416C>T	c.(415-417)tCg>tTg	p.S139L	GCDH_ENST00000457854.1_Missense_Mutation_p.S139L|GCDH_ENST00000422947.2_Missense_Mutation_p.S95L|GCDH_ENST00000591470.1_Missense_Mutation_p.S139L			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	139	Substrate binding.		S -> L (in GA1).		lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GGCTACAGGTCGGCGATGAGT	0.622													False	0	False	19:13004378	0	T	13004378	C	T	13004378	3	4	88	1	0	0	0	0	1	0	0	0	6330	893	31	1	434	1	GCDH	19	13004378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26865	13004378	46124605	18000	25712											
GCDH	2639	broad.mit.edu	37	chr19	13008537	13008537	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggctgcccccgagatggtttCtctgctgaagaggaataact	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13008537C>A	ENST00000222214.5	+	11	1314	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	GCDH_ENST00000457854.1_Missense_Mutation_p.S368Y|GCDH_ENST00000422947.2_Missense_Mutation_p.S324Y|GCDH_ENST00000591470.1_Missense_Mutation_p.S368Y			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	368					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GAGATGGTTTCTCTGCTGAAG	0.602													False	0	True	19:13008537	0	A	13008537	C	A	13008537	3	1	88	1	0	0	0	0	1	0	0	0	6330	913	32	3	1141	3	GCDH	19	13008537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4159	13008537	46120446	18001	25713											
SYCE2	256126	broad.mit.edu	37	chr19	13015452	13015452	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagtagagtcccgacttccCttccaggaccgtcagctggc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13015452C>A	ENST00000293695.7	-	3	178	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	54					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCCGACTTCCCTTCCAGGACC	0.547													False	0	True	19:13015452	0	A	13015452	C	A	13015452	3	1	88	1	0	0	0	0	1	0	0	0	15511	681	24	3	512	3	SYCE2	19	13015452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6915	13015452	46113531	18002	25714											
CALR	811	broad.mit.edu	37	chr19	13054419	13054419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatacgctgaggagtttggCaacgagacgtggggcgtaac	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13054419C>T	ENST00000316448.5	+	8	1102	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	343	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAGTTTGGCAACGAGACGT	0.592													False	0	False	19:13054419	0	T	13054419	C	T	13054419	2	4	88	1	0	0	0	0	0	0	0	1	2612	697	25	2		2	CALR	19	13054419	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38967	13054419	46074564	18003	25715											
RAD23A	5886	broad.mit.edu	37	chr19	13059574	13059574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgagagcgggtcgtggccGccctgagagccagctacaac	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13059574G>A	ENST00000586534.1	+	5	608	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000316856.3_Missense_Mutation_p.A183T|RAD23A_ENST00000592268.1_Missense_Mutation_p.A183T|RAD23A_ENST00000541222.1_Missense_Mutation_p.A18T			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	183	UBA 1.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GGTCGTGGCCGCCCTGAGAGC	0.632								Nucleotide excision repair (NER)					False	0	True	19:13059574	0	A	13059574	G	A	13059574	3	1	88	1	0	0	0	0	1	0	0	0	13061	1087	38	1	565	1	RAD23A	19	13059574	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5155	13059574	46069409	18004	25716											
NFIX	4784	broad.mit.edu	37	chr19	13192511	13192511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggagcccccgggccacaGcatcagccctgcacttcccc	10	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13192511G>T	ENST00000358552.3	+	6	970	c.970G>T	c.(970-972)Gca>Tca	p.A324S	NFIX_ENST00000587260.1_Missense_Mutation_p.A365S|NFIX_ENST00000397661.2_Missense_Mutation_p.A366S|NFIX_ENST00000588228.1_Missense_Mutation_p.A319S|NFIX_ENST00000592199.1_Missense_Mutation_p.A366S|NFIX_ENST00000587760.1_Missense_Mutation_p.A358S|NFIX_ENST00000360105.4_Missense_Mutation_p.A328S|NFIX_ENST00000585575.1_Missense_Mutation_p.A358S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	366					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCGGGCCACAGCATCAGCCCT	0.662													False	0	False	19:13192511	0	T	13192511	G	T	13192511	3	4	88	1	0	0	0	0	1	0	0	0	10442	971	34	3	1126	3	NFIX	19	13192511	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132937	13192511	45936472	18005	25717											
NACC1	112939	broad.mit.edu	37	chr19	13246051	13246051	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acactgcagatggagatcccGaacttcggcaacagcatcct	9	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246051G>A	ENST00000292431.4	+	2	156	c.30G>A	c.(28-30)ccG>ccA	p.P10P		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	10					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGGAGATCCCGAACTTCGGCA	0.622													False	0	True	19:13246051	0	A	13246051	G	A	13246051	2	1	88	1	0	0	0	0	0	0	0	1	10202	1045	37	1		1	NACC1	19	13246051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53540	13246051	45882932	18006	25718											
NACC1	112939	broad.mit.edu	37	chr19	13246249	13246249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggcggctgtgcagccccaGtctttccagcagatcctcag	11	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246249G>T	ENST00000292431.4	+	2	354	c.228G>T	c.(226-228)caG>caT	p.Q76H		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	76	BTB.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGCAGCCCCAGTCTTTCCAGC	0.647													False	0	False	19:13246249	0	T	13246249	G	T	13246249	3	4	88	1	0	0	0	0	1	0	0	0	10202	1020	36	3	230	3	NACC1	19	13246249	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	198	13246249	45882734	18007	25719											
NACC1	112939	broad.mit.edu	37	chr19	13246954	13246954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgtacagcatgatgaaCgtcggccagacaggtgaggt	13	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246954C>T	ENST00000292431.4	+	2	1059	c.933C>T	c.(931-933)aaC>aaT	p.N311N		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	311					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCATGATGAACGTCGGCCAGA	0.617													False	0	False	19:13246954	0	T	13246954	C	T	13246954	2	4	88	1	0	0	0	0	0	0	0	1	10202	535	19	1		1	NACC1	19	13246954	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	705	13246954	45882029	18008	25720											
STX10	8677	broad.mit.edu	37	chr19	13256126	13256126	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgtggcctgctgctcctcGatgtagcgagatgtggccga	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13256126G>A	ENST00000589083.1	-	5	499	c.447C>T	c.(445-447)atC>atT	p.I149I	STX10_ENST00000242770.5_Silent_p.I149I|STX10_ENST00000587230.1_Silent_p.I149I|STX10_ENST00000343587.5_Silent_p.I100I	NM_001271610.1	NP_001258539.1	O60499	STX10_HUMAN	syntaxin 10	149					Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GCTGCTCCTCGATGTAGCGAG	0.617													False	0	False	19:13256126	0	A	13256126	G	A	13256126	2	1	88	1	0	0	0	0	0	0	0	1	15418	1048	37	1		1	STX10	19	13256126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9172	13256126	45872857	18009	25721											
CACNA1A	773	broad.mit.edu	37	chr19	13325114	13325114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtactccatgatcatcatgGctgcgtagatcttccccacg	8	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13325114G>T	ENST00000360228.5	-	40	5872	c.5873C>A	c.(5872-5874)gCc>gAc	p.A1958D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1959D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1959					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GATCATCATGGCTGCGTAGAT	0.642													False	0	False	19:13325114	0	T	13325114	G	T	13325114	3	4	88	1	0	0	0	0	1	0	0	0	2558	1203	42	3	1679	3	CACNA1A	19	13325114	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68988	13325114	45803869	18010	25722											
CACNA1A	773	broad.mit.edu	37	chr19	13345818	13345818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcttcatcactgtcctcGtcctccacgtcgatgccaat	5	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13345818G>A	ENST00000360228.5	-	34	5165	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Silent_p.D1723D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1723					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CACTGTCCTCGTCCTCCACGT	0.542											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:13345818	0	A	13345818	G	A	13345818	2	1	88	1	0	0	0	0	0	0	0	1	2558	1136	40	1		1	CACNA1A	19	13345818	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20704	13345818	45783165	18011	25723											
CACNA1A	773	broad.mit.edu	37	chr19	13356068	13356068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagatgttccaggcatcGcggaaataattctagaatgg	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13356068G>A	ENST00000360228.5	-	31	4877	c.4878C>T	c.(4876-4878)cgC>cgT	p.R1626R	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Silent_p.R1627R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1627					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCAGGCATCGCGGAAATAAT	0.552													False	0	False	19:13356068	0	A	13356068	G	A	13356068	2	1	88	1	0	0	0	0	0	0	0	1	2558	1074	38	1		1	CACNA1A	19	13356068	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10250	13356068	45772915	18012	25724											
CACNA1A	773	broad.mit.edu	37	chr19	13370400	13370400	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccagccttctcccgtggAcacggtgaagagggtcagca	14	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13370400A>G	ENST00000360228.5	-	27	4365	c.4366T>C	c.(4366-4368)Tcc>Ccc	p.S1456P	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S1457P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1457			V -> L (in FHM1; dbSNP:rs121908237).		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCTCCCGTGGACACGGTGAAG	0.552													False	0	False	19:13370400	0	G	13370400	A	G	13370400	3	3	88	1	0	0	0	0	1	0	0	0	2558	275	10	4	3340	4	CACNA1A	19	13370400	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14332	13370400	45758583	18013	25725											
CACNA1A	773	broad.mit.edu	37	chr19	13410018	13410018	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgtctggccgcaggTgccgcgtgtaggcagccttc	13	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13410018T>C	ENST00000360228.5	-	19	2428	c.2429A>G	c.(2428-2430)cAc>cGc	p.H810R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.H811R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	811					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGCCGCAGGTGCCGCGTGTA	0.647													False	0	False	19:13410018	0	C	13410018	T	C	13410018	3	2	88	1	0	0	0	0	1	0	0	0	2558	1696	59	4	5309	4	CACNA1A	19	13410018	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39618	13410018	45718965	18014	25726											
CACNA1A	773	broad.mit.edu	37	chr19	13419063	13419063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctgagagatgcccagTacctgccgacagaggccagg	14	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13419063T>C	ENST00000360228.5	-	14	1783	c.1784A>G	c.(1783-1785)tAc>tGc	p.Y595C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.Y596C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	596					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGATGCCCAGTACCTGCCGAC	0.582													False	0	False	19:13419063	0	C	13419063	T	C	13419063	3	2	88	1	0	0	0	0	1	0	0	0	2558	1638	57	4	5983	4	CACNA1A	19	13419063	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9045	13419063	45709920	18015	25727											
CACNA1A	773	broad.mit.edu	37	chr19	13428040	13428040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgagttttgaccatgcGgcggatgtagaaacgcatcc	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13428040G>A	ENST00000360228.5	-	11	1440	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R482C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	482					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.R482C(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTGACCATGCGGCGGATGTAG	0.512													False	0	False	19:13428040	0	A	13428040	G	A	13428040	3	1	88	1	0	0	0	0	1	0	0	0	2558	1116	39	1	6338	1	CACNA1A	19	13428040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8977	13428040	45700943	18016	25728											
CCDC130	81576	broad.mit.edu	37	chr19	13869941	13869941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagcagaagctggagaCggacgccatgttccggctgg	16	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13869941C>T	ENST00000586600.1	+	9	931	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CCDC130_ENST00000221554.8_Missense_Mutation_p.T143M|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	143					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AAGCTGGAGACGGACGCCATG	0.662													False	0	True	19:13869941	0	T	13869941	C	T	13869941	3	4	88	1	0	0	0	0	1	0	0	0	2786	536	19	1	454	1	CCDC130	19	13869941	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441901	13869941	45259042	18017	25729											
ZSWIM4	65249	broad.mit.edu	37	chr19	13936465	13936465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacgcctgcaagacagccAccccggtcagcgccccacca	10	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13936465A>G	ENST00000254323.2	+	11	2155	c.1966A>G	c.(1966-1968)Acc>Gcc	p.T656A	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.T490A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	656							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CAAGACAGCCACCCCGGTCAG	0.667													False	0	True	19:13936465	0	G	13936465	A	G	13936465	3	3	88	1	0	0	0	0	1	0	0	0	18325	159	6	4	2008	4	ZSWIM4	19	13936465	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66524	13936465	45192518	18018	25730											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941765	13941765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaccttcctgctggcgccCgacgggcacctccagttctc	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13941765C>T	ENST00000254323.2	+	13	3060	c.2871C>T	c.(2869-2871)ccC>ccT	p.P957P	ZSWIM4_ENST00000440752.2_Silent_p.P791P	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	957							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TGCTGGCGCCCGACGGGCACC	0.582													False	0	True	19:13941765	0	T	13941765	C	T	13941765	2	4	88	1	0	0	0	0	0	0	0	1	18325	639	23	1		1	ZSWIM4	19	13941765	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5300	13941765	45187218	18019	25731											
NANOS3	342977	broad.mit.edu	37	chr19	13988311	13988311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctttctgcaaacacaaCggcgagtcccgggccatcta	9	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13988311C>T	ENST00000397555.2	+	2	192	c.192C>T	c.(190-192)aaC>aaT	p.N64N	NANOS3_ENST00000339133.5_Silent_p.N83N|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	64					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GCAAACACAACGGCGAGTCCC	0.662													False	0	False	19:13988311	0	T	13988311	C	T	13988311	2	4	88	1	0	0	0	0	0	0	0	1	10220	535	19	1		1	NANOS3	19	13988311	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46546	13988311	45140672	18020	25732											
C19orf57	79173	broad.mit.edu	37	chr19	14000527	14000527	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcctggcaaggccctcCtgtggcctccatcagcggcc	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14000527C>A	ENST00000454313.1	-	6	1200	c.1142G>T	c.(1141-1143)aGg>aTg	p.R381M	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Missense_Mutation_p.R381M|C19orf57_ENST00000346736.2_Missense_Mutation_p.R381M			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	381					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CAAGGCCCTCCTGTGGCCTCC	0.667													False	0	False	19:14000527	0	A	14000527	C	A	14000527	3	1	88	1	0	0	0	0	1	0	0	0	1954	681	24	3	783	3	C19orf57	19	14000527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12216	14000527	45128456	18021	25733											
DCAF15	90379	broad.mit.edu	37	chr19	14067054	14067054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgtgctgcttgccaggAtgccagccgagcccacccag	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14067054A>G	ENST00000254337.6	+	5	614	c.593A>G	c.(592-594)gAt>gGt	p.D198G		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	198										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCTTGCCAGGATGCCAGCCGA	0.667													False	0	False	19:14067054	0	G	14067054	A	G	14067054	3	3	88	1	0	0	0	0	1	0	0	0	4292	333	12	4	611	4	DCAF15	19	14067054	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66527	14067054	45061929	18022	25734											
DCAF15	90379	broad.mit.edu	37	chr19	14069989	14069989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaggcggccccagcccGttcttctgggtctcctgagc	12	17	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14069989G>A	ENST00000254337.6	+	7	938	c.917G>A	c.(916-918)cGt>cAt	p.R306H		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	306										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCCCCAGCCCGTTCTTCTGGG	0.701													False	0	True	19:14069989	0	A	14069989	G	A	14069989	3	1	88	1	0	0	0	0	1	0	0	0	4292	1145	40	1	943	1	DCAF15	19	14069989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2935	14069989	45058994	18023	25735											
DCAF15	90379	broad.mit.edu	37	chr19	14071137	14071137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcaaggtggcatgggAcctcaacacagggatcttcg	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14071137A>G	ENST00000254337.6	+	11	1586	c.1565A>G	c.(1564-1566)gAc>gGc	p.D522G		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	522										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GTGGCATGGGACCTCAACACA	0.617											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:14071137	0	G	14071137	A	G	14071137	3	3	88	1	0	0	0	0	1	0	0	0	4292	275	10	4	1607	4	DCAF15	19	14071137	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1148	14071137	45057846	18024	25736											
RFX1	5989	broad.mit.edu	37	chr19	14080831	14080831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccagacggcgggttcgcaGgcccatgaagacggagcgga	17	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14080831G>T	ENST00000254325.4	-	10	1705	c.1471C>A	c.(1471-1473)Ctg>Atg	p.L491M		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	491					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGGTTCGCAGGCCCATGAAG	0.647													False	0	False	19:14080831	0	T	14080831	G	T	14080831	3	4	88	1	0	0	0	0	1	0	0	0	13341	991	35	3	1516	3	RFX1	19	14080831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9694	14080831	45048152	18025	25737											
RFX1	5989	broad.mit.edu	37	chr19	14080949	14080949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctccgtggcagactcacGccctcagccgtctcatagtt	10	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14080949G>A	ENST00000254325.4	-	10	1587	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	451					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.G451G(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCAGACTCACGCCCTCAGCCG	0.622													False	0	True	19:14080949	0	A	14080949	G	A	14080949	2	1	88	1	0	0	0	0	0	0	0	1	13341	1074	38	1		1	RFX1	19	14080949	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	14080949	45048034	18026	25738											
SAMD1	90378	broad.mit.edu	37	chr19	14200027	14200027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcactctgaggtccccGctcgccgttaagctggtggt	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14200027G>A	ENST00000533683.2	-	2	1071	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W		NM_138352.1	NP_612361	Q6SPF0	SAMD1_HUMAN	sterile alpha motif domain containing 1	368						cytoplasm|extracellular region				endometrium(3)	3		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		TGAGGTCCCCGCTCGCCGTTA	0.642													False	0	True	19:14200027	0	A	14200027	G	A	14200027	3	1	88	1	0	0	0	0	1	0	0	0	13893	1086	38	1	529	1	SAMD1	19	14200027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119078	14200027	44928956	18027	25739											
ASF1B	55723	broad.mit.edu	37	chr19	14231410	14231410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatggcctccagcctgtccAtgttgttgtcccagttgata	9	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14231410A>G	ENST00000263382.3	-	4	969	c.470T>C	c.(469-471)aTg>aCg	p.M157T	ASF1B_ENST00000592798.1_Missense_Mutation_p.M98T	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	157					cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CAGCCTGTCCATGTTGTTGTC	0.617													False	0	True	19:14231410	0	G	14231410	A	G	14231410	3	3	88	1	0	0	0	0	1	0	0	0	1042	217	8	4	142	4	ASF1B	19	14231410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31383	14231410	44897573	18028	25740											
LPHN1	22859	broad.mit.edu	37	chr19	14266186	14266186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttcttctgtaaggcGcagtgaaagacgaagatgaa	10	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14266186G>A	ENST00000340736.6	-	19	3591	c.3294C>T	c.(3292-3294)tgC>tgT	p.C1098C	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.C1093C|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1098					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGTAAGGCGCAGTGAAAGA	0.592													False	0	False	19:14266186	0	A	14266186	G	A	14266186	2	1	88	1	0	0	0	0	0	0	0	1	8977	1079	38	1		1	LPHN1	19	14266186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34776	14266186	44862797	18029	25741											
LPHN1	22859	broad.mit.edu	37	chr19	14267880	14267880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actagtagcaggtagaggtgCacgccctccaggcacagcca	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14267880C>T	ENST00000340736.6	-	16	3135	c.2838G>A	c.(2836-2838)gtG>gtA	p.V946V	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.V941V|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	946					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTAGAGGTGCACGCCCTCCA	0.612													False	0	False	19:14267880	0	T	14267880	C	T	14267880	2	4	88	1	0	0	0	0	0	0	0	1	8977	697	25	2		2	LPHN1	19	14267880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1694	14267880	44861103	18030	25742											
LPHN1	22859	broad.mit.edu	37	chr19	14273951	14273951	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcgcgtgcgctccttgTtgtagaagacggcaccatcg	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14273951T>G	ENST00000340736.6	-	6	974	c.677A>C	c.(676-678)aAc>aCc	p.N226T	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.N221T|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	226	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCGCTCCTTGTTGTAGAAGAC	0.612													False	0	False	19:14273951	0	G	14273951	T	G	14273951	3	3	88	1	0	0	0	0	1	0	0	0	8977	1725	60	4	3823	4	LPHN1	19	14273951	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6071	14273951	44855032	18031	25743											
CD97	976	broad.mit.edu	37	chr19	14501839	14501839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgcagcccgggatatgaGcctgtttctggggcaaaaac	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14501839G>A	ENST00000242786.5	+	4	374	c.294G>A	c.(292-294)gaG>gaA	p.E98E	CD97_ENST00000587728.1_3'UTR|CD97_ENST00000357355.3_Silent_p.E98E|CD97_ENST00000358600.3_Silent_p.E98E	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	98	EGF-like 2; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGGGATATGAGCCTGTTTCTG	0.527													False	0	False	19:14501839	0	A	14501839	G	A	14501839	2	1	88	1	0	0	0	0	0	0	0	1	3072	962	34	2		2	CD97	19	14501839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227888	14501839	44627144	18032	25744											
CD97	976	broad.mit.edu	37	chr19	14517707	14517707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcattttcgtgactacCgtctggaagctcactcagaa	9	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14517707C>T	ENST00000242786.5	+	17	2222	c.2142C>T	c.(2140-2142)acC>acT	p.T714T	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Silent_p.T665T|CD97_ENST00000358600.3_Silent_p.T621T	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	714					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCGTGACTACCGTCTGGAAGC	0.562											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:14517707	0	T	14517707	C	T	14517707	2	4	88	1	0	0	0	0	0	0	0	1	3072	639	23	1		1	CD97	19	14517707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15868	14517707	44611276	18033	25745											
CD97	976	broad.mit.edu	37	chr19	14517876	14517876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccccgctcctcgcagggcGctgaccatcacggccatcgc	10	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14517876G>A	ENST00000242786.5	+	18	2291	c.2211G>A	c.(2209-2211)gcG>gcA	p.A737A	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Silent_p.A688A|CD97_ENST00000358600.3_Silent_p.A644A	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	737					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCGCAGGGCGCTGACCATCA	0.647													False	0	False	19:14517876	0	A	14517876	G	A	14517876	2	1	88	1	0	0	0	0	0	0	0	1	3072	1074	38	1		1	CD97	19	14517876	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169	14517876	44611107	18034	25746											
PKN1	5585	broad.mit.edu	37	chr19	14554324	14554324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggccccacctgctcggCcaccaacctgagccgcgtgg	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14554324C>T	ENST00000242783.6	+	3	530	c.365C>T	c.(364-366)gCc>gTc	p.A122V	PKN1_ENST00000587429.1_3'UTR|PKN1_ENST00000342216.4_Missense_Mutation_p.A128V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	122					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						ACCTGCTCGGCCACCAACCTG	0.662													False	0	False	19:14554324	0	T	14554324	C	T	14554324	3	4	88	1	0	0	0	0	1	0	0	0	12048	739	26	2	418	2	PKN1	19	14554324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36448	14554324	44574659	18035	25747											
PKN1	5585	broad.mit.edu	37	chr19	14568859	14568859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtgaagtcagcactgtGcttaagctggataacacagt	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14568859G>A	ENST00000242783.6	+	8	1347	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	PKN1_ENST00000342216.4_Silent_p.V400V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	394	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TCAGCACTGTGCTTAAGCTGG	0.552													False	0	False	19:14568859	0	A	14568859	G	A	14568859	2	1	88	1	0	0	0	0	0	0	0	1	12048	1306	46	2		2	PKN1	19	14568859	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14535	14568859	44560124	18036	25748											
PKN1	5585	broad.mit.edu	37	chr19	14578761	14578761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaaggggacattgtggCccgagacgaggtggagaggt	19	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14578761C>T	ENST00000242783.6	+	15	2123	c.1958C>T	c.(1957-1959)gCc>gTc	p.A653V	PKN1_ENST00000342216.4_Missense_Mutation_p.A659V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	653	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GACATTGTGGCCCGAGACGAG	0.587													False	0	True	19:14578761	0	T	14578761	C	T	14578761	3	4	88	1	0	0	0	0	1	0	0	0	12048	739	26	2	2059	2	PKN1	19	14578761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9902	14578761	44550222	18037	25749											
GIPC1	10755	broad.mit.edu	37	chr19	14593528	14593528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggcaggcggaaggcctcGgcgatcttgccatacagctc	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14593528G>A	ENST00000393033.4	-	4	530	c.261C>T	c.(259-261)gcC>gcT	p.A87A	GIPC1_ENST00000586027.1_Silent_p.A87A|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000345425.2_Silent_p.A87A	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	87					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GGAAGGCCTCGGCGATCTTGC	0.652													False	0	False	19:14593528	0	A	14593528	G	A	14593528	2	1	88	1	0	0	0	0	0	0	0	1	6437	1103	39	1		1	GIPC1	19	14593528	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14767	14593528	44535455	18038	25750											
DNAJB1	3337	broad.mit.edu	37	chr19	14626848	14626848	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ataatgaggtccccacgtttCtcgggtgttttggggagggg	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14626848C>A	ENST00000254322.2	-	3	997	c.927G>T	c.(925-927)gaG>gaT	p.E309D	DNAJB1_ENST00000396969.4_Missense_Mutation_p.E209D	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	309					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CCCCACGTTTCTCGGGTGTTT	0.507													False	0	True	19:14626848	0	A	14626848	C	A	14626848	3	1	88	1	0	0	0	0	1	0	0	0	4645	912	32	3	99	3	DNAJB1	19	14626848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33320	14626848	44502135	18039	25751											
TECR	9524	broad.mit.edu	37	chr19	14676616	14676616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccaagggcaagcaccGcagctacctgaaggagttcc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14676616G>A	ENST00000600083.1	+	13	1028	c.395G>A	c.(394-396)cGc>cAc	p.R132H	TECR_ENST00000596073.1_Missense_Mutation_p.R132H|TECR_ENST00000436007.2_Missense_Mutation_p.R302H|TECR_ENST00000215567.5_Missense_Mutation_p.R287H			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	287					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						GGCAAGCACCGCAGCTACCTG	0.662													False	0	False	19:14676616	0	A	14676616	G	A	14676616	3	1	88	1	0	0	0	0	1	0	0	0	15827	1087	38	1	910	1	TECR	19	14676616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49768	14676616	44452367	18040	25752											
TECR	9524	broad.mit.edu	37	chr19	14676647	14676647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagttccgggactacccGcccctgcgcatgcccatcat	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14676647G>A	ENST00000600083.1	+	13	1059	c.426G>A	c.(424-426)ccG>ccA	p.P142P	TECR_ENST00000596073.1_Silent_p.P142P|TECR_ENST00000436007.2_Silent_p.P312P|TECR_ENST00000215567.5_Silent_p.P297P			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	297					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						GGGACTACCCGCCCCTGCGCA	0.657													False	0	True	19:14676647	0	A	14676647	G	A	14676647	2	1	88	1	0	0	0	0	0	0	0	1	15827	1074	38	1		1	TECR	19	14676647	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	14676647	44452336	18041	25753											
EMR3	84658	broad.mit.edu	37	chr19	14743812	14743812	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagaccaagataaacaAtactaaattcgcctgcagga	6	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14743812A>C	ENST00000253673.5	-	13	1664	c.1564T>G	c.(1564-1566)Ttg>Gtg	p.L522V	EMR3_ENST00000443157.2_Missense_Mutation_p.L396V|EMR3_ENST00000599900.1_Missense_Mutation_p.L307V|EMR3_ENST00000344373.4_Missense_Mutation_p.L470V	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	522					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AAGATAAACAATACTAAATTC	0.403													False	0	False	19:14743812	0	C	14743812	A	C	14743812	3	2	88	1	0	0	0	0	1	0	0	0	5138	98	4	4	410	4	EMR3	19	14743812	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67165	14743812	44385171	18042	25754											
ZNF333	84449	broad.mit.edu	37	chr19	14806443	14806443	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagcagagccaaaggcaacaGaacgagggattctccgtgcc	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14806443G>T	ENST00000292530.6	+	4	284	c.193G>T	c.(193-195)Gaa>Taa	p.E65*	ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000540689.2_Nonsense_Mutation_p.E65*|ZNF333_ENST00000601629.1_3'UTR	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	65	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						AAAGGCAACAGAACGAGGGAT	0.572													False	0	False	19:14806443	0	T	14806443	G	T	14806443	4	4	88	1	0	0	0	0	0	1	0	0	17933	943	33	3	203	3	ZNF333	19	14806443	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62631	14806443	44322540	18043	25755											
EMR2	30817	broad.mit.edu	37	chr19	14863237	14863237	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtgaggtgctggtgttctgGatggctttacacaggagaaa	15	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14863237G>T	ENST00000315576.3	-	15	2143	c.1692C>A	c.(1690-1692)atC>atA	p.I564I	EMR2_ENST00000594294.1_Silent_p.I515I|EMR2_ENST00000392967.2_Silent_p.I553I|EMR2_ENST00000601345.1_Silent_p.I553I|EMR2_ENST00000353876.1_Silent_p.I471I|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000596991.2_Silent_p.I553I|EMR2_ENST00000346057.1_Silent_p.I515I|EMR2_ENST00000392965.3_Silent_p.I506I|EMR2_ENST00000595839.1_Silent_p.I422I|EMR2_ENST00000594076.1_Silent_p.I471I|EMR2_ENST00000353005.1_Silent_p.I422I	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	564					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGGTGTTCTGGATGGCTTTAC	0.572													False	0	False	19:14863237	0	T	14863237	G	T	14863237	2	4	88	1	0	0	0	0	0	0	0	1	5137	1164	41	3		3	EMR2	19	14863237	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56794	14863237	44265746	18044	25756											
EMR2	30817	broad.mit.edu	37	chr19	14877892	14877892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccgtagcttttacagaGccttgggttctgctgacatt	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14877892G>T	ENST00000315576.3	-	6	836	c.385C>A	c.(385-387)Ctc>Atc	p.L129I	EMR2_ENST00000594294.1_Missense_Mutation_p.L129I|EMR2_ENST00000392967.2_Missense_Mutation_p.L129I|EMR2_ENST00000601345.1_Missense_Mutation_p.L129I|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000596991.2_Missense_Mutation_p.L129I|EMR2_ENST00000346057.1_Missense_Mutation_p.L129I|EMR2_ENST00000392965.3_Missense_Mutation_p.L129I|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000353005.1_Intron	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	129	EGF-like 3; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CTTTTACAGAGCCTTGGGTTC	0.587													False	0	False	19:14877892	0	T	14877892	G	T	14877892	3	4	88	1	0	0	0	0	1	0	0	0	5137	971	34	3	2150	3	EMR2	19	14877892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14655	14877892	44251091	18045	25757											
SLC1A6	6511	broad.mit.edu	37	chr19	15063766	15063766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccacggcaatgatgagCgtgatgtcttccgtgggcaa	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15063766C>T	ENST00000430939.2	-	8	1410	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	SLC1A6_ENST00000221742.3_Silent_p.T491T|SLC1A6_ENST00000600144.1_Silent_p.T413T			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	491					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CAATGATGAGCGTGATGTCTT	0.607													False	0	False	19:15063766	0	T	15063766	C	T	15063766	2	4	88	1	0	0	0	0	0	0	0	1	14517	755	27	1		1	SLC1A6	19	15063766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185874	15063766	44065217	18046	25758											
SLC1A6	6511	broad.mit.edu	37	chr19	15063833	15063833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaccagacccgcctggGggatgccagcagccccaaca	13	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15063833G>A	ENST00000430939.2	-	8	1343	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L	SLC1A6_ENST00000221742.3_Missense_Mutation_p.P469L|SLC1A6_ENST00000600144.1_Missense_Mutation_p.P391L			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	469					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	ACCCGCCTGGGGGATGCCAGC	0.607													False	0	True	19:15063833	0	A	15063833	G	A	15063833	3	1	88	1	0	0	0	0	1	0	0	0	14517	1232	43	2	296	2	SLC1A6	19	15063833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	15063833	44065150	18047	25759											
SLC1A6	6511	broad.mit.edu	37	chr19	15065121	15065121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctccaggcagcggaagGtgatgggcagcgttgccgag	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15065121G>A	ENST00000430939.2	-	7	1127	c.998C>T	c.(997-999)aCc>aTc	p.T333I	SLC1A6_ENST00000221742.3_Missense_Mutation_p.T397I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T319I			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	397					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCAGCGGAAGGTGATGGGCAG	0.692													False	0	False	19:15065121	0	A	15065121	G	A	15065121	3	1	88	1	0	0	0	0	1	0	0	0	14517	1261	44	2	516	2	SLC1A6	19	15065121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1288	15065121	44063862	18048	25760											
SYDE1	85360	broad.mit.edu	37	chr19	15221544	15221544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcgagcgccgagggctgCgggtgagcacccaccccacc	14	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15221544C>T	ENST00000600252.1	+	1	1901	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	SYDE1_ENST00000600440.1_Missense_Mutation_p.R363W|SYDE1_ENST00000342784.2_Missense_Mutation_p.R430W			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	430	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CCGAGGGCTGCGGGTGAGCAC	0.687													False	0	True	19:15221544	0	T	15221544	C	T	15221544	3	4	88	1	0	0	0	0	1	0	0	0	15517	759	27	1	1302	1	SYDE1	19	15221544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156423	15221544	43907439	18049	25761											
ILVBL	10994	broad.mit.edu	37	chr19	15226130	15226130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgaccacaaccgggtggCcgtctcggcactgctgctgg	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15226130C>A	ENST00000263383.3	-	16	1971	c.1832G>T	c.(1831-1833)gGc>gTc	p.G611V	ILVBL_ENST00000534378.1_Missense_Mutation_p.G504V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	611						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AACCGGGTGGCCGTCTCGGCA	0.637													False	0	False	19:15226130	0	A	15226130	C	A	15226130	3	1	88	1	0	0	0	0	1	0	0	0	7765	739	26	3	70	3	ILVBL	19	15226130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4586	15226130	43902853	18050	25762											
ILVBL	10994	broad.mit.edu	37	chr19	15233511	15233511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggctattcaccaggagaCcactcggcccacgaggccct	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15233511C>T	ENST00000263383.3	-	6	848	c.709G>A	c.(709-711)Gtc>Atc	p.V237I	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.V130I	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	237						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCAGGAGACCACTCGGCCC	0.597													False	0	False	19:15233511	0	T	15233511	C	T	15233511	3	4	88	1	0	0	0	0	1	0	0	0	7765	507	18	2	1233	2	ILVBL	19	15233511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7381	15233511	43895472	18051	25763											
NOTCH3	4854	broad.mit.edu	37	chr19	15271773	15271773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtgtgccccagccgcCgggtactcctcgccatgtcc	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15271773C>T	ENST00000263388.2	-	33	6741	c.6666G>A	c.(6664-6666)ccG>ccA	p.P2222P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2222					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCAGCCGCCGGGTACTCCT	0.711													False	0	True	19:15271773	0	T	15271773	C	T	15271773	2	4	88	1	0	0	0	0	0	0	0	1	10618	639	23	1		1	NOTCH3	19	15271773	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38262	15271773	43857210	18052	25764											
NOTCH3	4854	broad.mit.edu	37	chr19	15276713	15276713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcttggctgcatcagcaCgggcataacgggcagccagg	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15276713C>T	ENST00000263388.2	-	30	5627	c.5552G>A	c.(5551-5553)cGt>cAt	p.R1851H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1851					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCATCAGCACGGGCATAACG	0.642													False	0	True	19:15276713	0	T	15276713	C	T	15276713	3	4	88	1	0	0	0	0	1	0	0	0	10618	536	19	1	1429	1	NOTCH3	19	15276713	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4940	15276713	43852270	18053	25765											
NOTCH3	4854	broad.mit.edu	37	chr19	15284889	15284889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcactcacccgatcacctCgggggccagctcccgacggg	13	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15284889C>T	ENST00000263388.2	-	25	4801	c.4726G>A	c.(4726-4728)Gag>Aag	p.E1576K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1576					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCGATCACCTCGGGGGCCAGC	0.637													False	0	True	19:15284889	0	T	15284889	C	T	15284889	3	4	88	1	0	0	0	0	1	0	0	0	10618	893	31	1	2275	1	NOTCH3	19	15284889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8176	15284889	43844094	18054	25766											
NOTCH3	4854	broad.mit.edu	37	chr19	15291787	15291787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacctggcactgcgggccCgtgaagctctcgaggcaggt	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15291787C>T	ENST00000263388.2	-	18	3054	c.2979G>A	c.(2977-2979)acG>acA	p.T993T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	993	EGF-like 25.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACTGCGGGCCCGTGAAGCTCT	0.682													False	0	True	19:15291787	0	T	15291787	C	T	15291787	2	4	88	1	0	0	0	0	0	0	0	1	10618	639	23	1		1	NOTCH3	19	15291787	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6898	15291787	43837196	18055	25767											
NOTCH3	4854	broad.mit.edu	37	chr19	15295262	15295262	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctgctggcatcgtgggcCtgggggtagggagcaaggtt	18	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15295262C>A	ENST00000263388.2	-	16	2486		c.e16-1			NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3						Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATCGTGGGCCTGGGGGTAGG	0.622													False	0	False	19:15295262	0	A	15295262	C	A	15295262	5	1	88	1	0	0	0	0	0	0	1	0	10618	695	24	3	4627	3	NOTCH3	19	15295262	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3475	15295262	43833721	18056	25768											
NOTCH3	4854	broad.mit.edu	37	chr19	15296115	15296115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaacccattccatcgctgCtgcatgtcccaccggccctg	9	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15296115C>A	ENST00000263388.2	-	14	2324	c.2249G>T	c.(2248-2250)aGc>aTc	p.S750I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	750	EGF-like 19.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCATCGCTGCTGCATGTCCC	0.662													False	0	False	19:15296115	0	A	15296115	C	A	15296115	3	1	88	1	0	0	0	0	1	0	0	0	10618	797	28	3	4796	3	NOTCH3	19	15296115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	853	15296115	43832868	18057	25769											
NOTCH3	4854	broad.mit.edu	37	chr19	15296201	15296201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggggccactccagccaggCtcacacacacagcggaacct	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15296201C>A	ENST00000263388.2	-	14	2238	c.2163G>T	c.(2161-2163)gaG>gaT	p.E721D		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	721	EGF-like 18.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCAGCCAGGCTCACACACAC	0.692													False	0	False	19:15296201	0	A	15296201	C	A	15296201	3	1	88	1	0	0	0	0	1	0	0	0	10618	796	28	3	4882	3	NOTCH3	19	15296201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	15296201	43832782	18058	25770											
NOTCH3	4854	broad.mit.edu	37	chr19	15299878	15299878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagggccccgacagacactCgttgacatcggtctcacagc	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15299878C>T	ENST00000263388.2	-	8	1375	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	434	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.E434K(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GACAGACACTCGTTGACATCG	0.647													False	0	False	19:15299878	0	T	15299878	C	T	15299878	3	4	88	1	0	0	0	0	1	0	0	0	10618	893	31	1	5769	1	NOTCH3	19	15299878	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3677	15299878	43829105	18059	25771											
EPHX3	79852	broad.mit.edu	37	chr19	15342604	15342604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagttctcagggaagccGtgcagaaacagcatgagggg	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15342604G>A	ENST00000221730.3	-	2	532	c.312C>T	c.(310-312)caC>caT	p.H104H	EPHX3_ENST00000435261.1_Silent_p.H104H|EPHX3_ENST00000602233.1_Silent_p.H104H	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	104						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CAGGGAAGCCGTGCAGAAACA	0.667													False	0	False	19:15342604	0	A	15342604	G	A	15342604	2	1	88	1	0	0	0	0	0	0	0	1	5213	1136	40	1		1	EPHX3	19	15342604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42726	15342604	43786379	18060	25772											
EPHX3	79852	broad.mit.edu	37	chr19	15342655	15342655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccagccgagacatagtgCagacgcaggcccgagctcta	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15342655C>T	ENST00000221730.3	-	2	481	c.261G>A	c.(259-261)ctG>ctA	p.L87L	EPHX3_ENST00000435261.1_Silent_p.L87L|EPHX3_ENST00000602233.1_Silent_p.L87L	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	87						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AGACATAGTGCAGACGCAGGC	0.667													False	0	False	19:15342655	0	T	15342655	C	T	15342655	2	4	88	1	0	0	0	0	0	0	0	1	5213	697	25	2		2	EPHX3	19	15342655	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51	15342655	43786328	18061	25773											
BRD4	23476	broad.mit.edu	37	chr19	15349989	15349989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaactgctcgaagctgtcGctggatgacttggctgtgga	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15349989G>A	ENST00000263377.2	-	18	3884	c.3663C>T	c.(3661-3663)agC>agT	p.S1221S		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1221					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGAAGCTGTCGCTGGATGACT	0.617			T	C15orf55	lethal midline carcinoma of young people								False	0	False	19:15349989	0	A	15349989	G	A	15349989	2	1	88	1	0	0	0	0	0	0	0	1	1511	1078	38	1		1	BRD4	19	15349989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7334	15349989	43778994	18062	25774											
BRD4	23476	broad.mit.edu	37	chr19	15364970	15364970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtcacctaacctgtttcGgagtcttcgctgtcagagga	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15364970G>A	ENST00000263377.2	-	11	2372	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	BRD4_ENST00000360016.5_Silent_p.S717S|BRD4_ENST00000371835.4_Silent_p.S717S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	717	Ser-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AACCTGTTTCGGAGTCTTCGC	0.542			T	C15orf55	lethal midline carcinoma of young people								False	0	False	19:15364970	0	A	15364970	G	A	15364970	2	1	88	1	0	0	0	0	0	0	0	1	1511	1103	39	1		1	BRD4	19	15364970	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14981	15364970	43764013	18063	25775											
BRD4	23476	broad.mit.edu	37	chr19	15365050	15365050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccttcatcttggaggagcCggcaatcacatcaactttct	8	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15365050C>T	ENST00000263377.2	-	11	2292	c.2071G>A	c.(2071-2073)Ggc>Agc	p.G691S	BRD4_ENST00000360016.5_Missense_Mutation_p.G691S|BRD4_ENST00000371835.4_Missense_Mutation_p.G691S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	691					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TTGGAGGAGCCGGCAATCACA	0.572			T	C15orf55	lethal midline carcinoma of young people								False	0	False	19:15365050	0	T	15365050	C	T	15365050	3	4	88	1	0	0	0	0	1	0	0	0	1511	652	23	1	2072	1	BRD4	19	15365050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	15365050	43763933	18064	25776											
BRD4	23476	broad.mit.edu	37	chr19	15366169	15366169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccagctcacgcagtgtGgacggcttcagggtctcaaa	12	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15366169G>A	ENST00000263377.2	-	10	2207	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	BRD4_ENST00000360016.5_Silent_p.S662S|BRD4_ENST00000371835.4_Silent_p.S662S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	662					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CACGCAGTGTGGACGGCTTCA	0.582			T	C15orf55	lethal midline carcinoma of young people								False	0	False	19:15366169	0	A	15366169	G	A	15366169	2	1	88	1	0	0	0	0	0	0	0	1	1511	1335	47	2		2	BRD4	19	15366169	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1119	15366169	43762814	18065	25777											
BRD4	23476	broad.mit.edu	37	chr19	15375447	15375447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctttggaggtttcacaGgccggctgctctcccgccgc	11	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15375447G>A	ENST00000263377.2	-	6	1201	c.980C>T	c.(979-981)cCt>cTt	p.P327L	BRD4_ENST00000360016.5_Missense_Mutation_p.P327L|BRD4_ENST00000371835.4_Missense_Mutation_p.P327L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	327					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGTTTCACAGGCCGGCTGCT	0.652			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:15375447	0	A	15375447	G	A	15375447	3	1	88	1	0	0	0	0	1	0	0	0	1511	1000	35	2	3183	2	BRD4	19	15375447	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9278	15375447	43753536	18066	25778											
BRD4	23476	broad.mit.edu	37	chr19	15383882	15383882	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttactggcagatttctcaatCtcgtcccagggccgctctcc	8	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15383882C>A	ENST00000263377.2	-	2	250	c.29G>T	c.(28-30)aGa>aTa	p.R10I	BRD4_ENST00000360016.5_Missense_Mutation_p.R10I|BRD4_ENST00000371835.4_Missense_Mutation_p.R10I	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	10					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ATTTCTCAATCTCGTCCCAGG	0.552			T	C15orf55	lethal midline carcinoma of young people								False	0	False	19:15383882	0	A	15383882	C	A	15383882	3	1	88	1	0	0	0	0	1	0	0	0	1511	913	32	3	4150	3	BRD4	19	15383882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8435	15383882	43745101	18067	25779											
AKAP8	10270	broad.mit.edu	37	chr19	15484043	15484043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagctgccattgcggtcGgaccccaggtcgaactcata	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15484043G>A	ENST00000269701.2	-	5	540	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	160					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CATTGCGGTCGGACCCCAGGT	0.667													False	0	False	19:15484043	0	A	15484043	G	A	15484043	2	1	88	1	0	0	0	0	0	0	0	1	457	1103	39	1		1	AKAP8	19	15484043	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100161	15484043	43644940	18068	25780											
AKAP8L	26993	broad.mit.edu	37	chr19	15508540	15508540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctgcagaaagtcagcCgtctgcttagggagcttggt	12	11	3	1	rs79796304	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15508540C>T	ENST00000397410.5	-	10	1414	c.1284G>A	c.(1282-1284)acG>acA	p.T428T	AKAP8L_ENST00000595465.2_Silent_p.T367T|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GAAAGTCAGCCGTCTGCTTAG	0.502													False	0	False	19:15508540	0	T	15508540	C	T	15508540	2	4	88	1	0	0	0	0	0	0	0	1	458	639	23	1		1	AKAP8L	19	15508540	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24497	15508540	43620443	18069	25781											
AKAP8L	26993	broad.mit.edu	37	chr19	15511996	15511996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccaggtcttccaggtccGcctcatctgcttcatgccat	9	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15511996G>A	ENST00000397410.5	-	5	911	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	AKAP8L_ENST00000595465.2_Missense_Mutation_p.R200W|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTCCAGGTCCGCCTCATCTGC	0.652													False	0	False	19:15511996	0	A	15511996	G	A	15511996	3	1	88	1	0	0	0	0	1	0	0	0	458	1086	38	1	1199	1	AKAP8L	19	15511996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3456	15511996	43616987	18070	25782											
WIZ	58525	broad.mit.edu	37	chr19	15535824	15535824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagtaaaggccacacagCtcgcagcaggcctcggtggc	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15535824C>A	ENST00000389282.4	-	8	4413	c.4200G>T	c.(4198-4200)gaG>gaT	p.E1400D	WIZ_ENST00000599686.3_Missense_Mutation_p.E584D|WIZ_ENST00000263381.7_Missense_Mutation_p.E543D|WIZ_ENST00000545156.1_Missense_Mutation_p.E714D|WIZ_ENST00000599910.2_Missense_Mutation_p.E717D			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1400						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGCCACACAGCTCGCAGCAGG	0.687													False	0	False	19:15535824	0	A	15535824	C	A	15535824	3	1	88	1	0	0	0	0	1	0	0	0	17459	796	28	3	767	3	WIZ	19	15535824	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23828	15535824	43593159	18071	25783											
WIZ	58525	broad.mit.edu	37	chr19	15558986	15558986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggtaacgggtggaccGgaagatgccaccttccccct	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15558986G>A	ENST00000389282.4	-	2	346	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	WIZ_ENST00000263381.7_Missense_Mutation_p.R45W			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	45						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CGGGTGGACCGGAAGATGCCA	0.647													False	0	False	19:15558986	0	A	15558986	G	A	15558986	3	1	88	1	0	0	0	0	1	0	0	0	17459	1115	39	1	2279	1	WIZ	19	15558986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23162	15558986	43569997	18072	25784											
PGLYRP2	114770	broad.mit.edu	37	chr19	15580712	15580712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagccgcgtccctcgtAcacgtagccgtccgagccca	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15580712A>G	ENST00000292609.4	-	4	1501	c.1372T>C	c.(1372-1374)Tac>Cac	p.Y458H	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.Y458H			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	458					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CGTCCCTCGTACACGTAGCCG	0.706													False	0	False	19:15580712	0	G	15580712	A	G	15580712	3	3	88	1	0	0	0	0	1	0	0	0	11863	391	14	4	366	4	PGLYRP2	19	15580712	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21726	15580712	43548271	18073	25785											
CYP4F8	11283	broad.mit.edu	37	chr19	15728970	15728970	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggtactcctgcagagCttgtggtggtgggcacagga	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15728970C>A	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TCCTGCAGAGCTTGTGGTGGT	0.542													False	0	False	19:15728970	0	A	15728970	C	A	15728970	1	1	88	0	1	0	0	0	0	0	0	0	4216	812	28	3		3	CYP4F8	19	15728970	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148258	15728970	43400013	18074	25786											
CYP4F8	11283	broad.mit.edu	37	chr19	15733064	15733064	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccatggagggcagcacCtgtctggatgtgtttgagca	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15733064C>T	ENST00000441682.2	+	0	622							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						AGGGCAGCACCTGTCTGGATG	0.587													False	0	False	19:15733064	0	T	15733064	C	T	15733064	1	4	88	0	1	0	0	0	0	0	0	0	4216	668	24	2		2	CYP4F8	19	15733064	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4094	15733064	43395919	18075	25787											
CYP4F12	66002	broad.mit.edu	37	chr19	15791241	15791241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggtgacaagtggagccGccaccgtcggatgctgacgc	16	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15791241G>A	ENST00000550308.1	+	5	817	c.437G>A	c.(436-438)cGc>cAc	p.R146H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R146H	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12									p.R146H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AAGTGGAGCCGCCACCGTCGG	0.552													False	0	False	19:15791241	0	A	15791241	G	A	15791241	3	1	88	1	0	0	0	0	1	0	0	0	4212	1087	38	1	451	1	CYP4F12	19	15791241	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58177	15791241	43337742	18076	25788											
CYP4F12	66002	broad.mit.edu	37	chr19	15791299	15791299	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcctgaagtcctatataacGatcttcaacaagagtgcaaa	6	9	2	2	rs141478890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15791299G>A	ENST00000550308.1	+	5	875	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_ENST00000324632.10_Silent_p.T165T	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12									p.T165T(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCTATATAACGATCTTCAACA	0.537													False	0	False	19:15791299	0	A	15791299	G	A	15791299	2	1	88	1	0	0	0	0	0	0	0	1	4212	1045	37	1		1	CYP4F12	19	15791299	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	15791299	43337684	18077	25789											
CYP4F12	66002	broad.mit.edu	37	chr19	15794373	15794373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaagaagccagcatatcCtccagcacatggactttctg	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15794373C>A	ENST00000550308.1	+	7	1098	c.718C>A	c.(718-720)Ctc>Atc	p.L240I	CYP4F12_ENST00000324632.10_Missense_Mutation_p.L240I	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCAGCATATCCTCCAGCACAT	0.562													False	0	False	19:15794373	0	A	15794373	C	A	15794373	3	1	88	1	0	0	0	0	1	0	0	0	4212	681	24	3	740	3	CYP4F12	19	15794373	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3074	15794373	43334610	18078	25790											
CYP4F12	66002	broad.mit.edu	37	chr19	15807727	15807727	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgcctgcaggaactgcatCgggcaggcgttcgccatggc	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15807727C>T	ENST00000550308.1	+	13	1787	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	CYP4F12_ENST00000324632.10_Silent_p.I469I	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGAACTGCATCGGGCAGGCGT	0.637													False	0	True	19:15807727	0	T	15807727	C	T	15807727	2	4	88	1	0	0	0	0	0	0	0	1	4212	874	31	1		1	CYP4F12	19	15807727	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13354	15807727	43321256	18079	25791											
OR10H3	26532	broad.mit.edu	37	chr19	15852477	15852477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgctcttcacccatcgttCcatcacctttgtggcttgtg	7	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15852477C>T	ENST00000305892.1	+	1	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ACCCATCGTTCCATCACCTTT	0.502													False	0	False	19:15852477	0	T	15852477	C	T	15852477	3	4	88	1	0	0	0	0	1	0	0	0	10975	855	30	2	277	2	OR10H3	19	15852477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44750	15852477	43276506	18080	25792											
OR10H3	26532	broad.mit.edu	37	chr19	15852562	15852562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttctcatggtcatgggCtatgatcactacgtgaccat	8	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15852562C>T	ENST00000305892.1	+	1	360	c.360C>T	c.(358-360)ggC>ggT	p.G120G		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGTCATGGGCTATGATCACT	0.522													False	0	True	19:15852562	0	T	15852562	C	T	15852562	2	4	88	1	0	0	0	0	0	0	0	1	10975	784	28	2		2	OR10H3	19	15852562	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85	15852562	43276421	18081	25793											
CYP4F2	8529	broad.mit.edu	37	chr19	15990414	15990414	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagagaggggccccgcacCtcagggtccggccacacagc	14	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990414C>A	ENST00000221700.6	-	11	1409	c.1314G>T	c.(1312-1314)gaG>gaT	p.E438D		NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCCCCGCACCTCAGGGTCCG	0.562													False	0	False	19:15990414	0	A	15990414	C	A	15990414	5	1	88	1	0	0	0	0	0	0	1	0	4213	695	24	3	260	3	CYP4F2	19	15990414	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137852	15990414	43138569	18082	25794											
CYP4F2	8529	broad.mit.edu	37	chr19	15990671	15990671	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccgcaggctctccttcatGcacatggtcaggaagggcaa	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990671G>T	ENST00000221700.6	-	10	1247	c.1152C>A	c.(1150-1152)tgC>tgA	p.C384*		NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCTCCTTCATGCACATGGTCA	0.587													False	0	False	19:15990671	0	T	15990671	G	T	15990671	4	4	88	1	0	0	0	0	0	1	0	0	4213	1311	46	3	426	3	CYP4F2	19	15990671	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257	15990671	43138312	18083	25795											
CYP4F2	8529	broad.mit.edu	37	chr19	15997079	15997079	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataaaggtgtcagcttctgCtcttatgtcctcatcagata	7	10	5	1	rs149428608		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15997079C>A	ENST00000221700.6	-	8	1053	c.958G>T	c.(958-960)Gca>Tca	p.A320S	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCAGCTTCTGCTCTTATGTCC	0.557													False	0	False	19:15997079	0	A	15997079	C	A	15997079	3	1	88	1	0	0	0	0	1	0	0	0	4213	797	28	3	628	3	CYP4F2	19	15997079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6408	15997079	43131904	18084	25796											
CYP4F11	57834	broad.mit.edu	37	chr19	16034677	16034677	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggactttgccttgttcTtgaggaaatcatcaataccc	7	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16034677T>G	ENST00000402119.4	-	6	1289	c.863A>C	c.(862-864)aAg>aCg	p.K288T	CYP4F11_ENST00000326742.8_Missense_Mutation_p.K288T|CYP4F11_ENST00000248041.8_Missense_Mutation_p.K288T|CYP4F11_ENST00000591841.1_5'UTR	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCCTTGTTCTTGAGGAAATC	0.517													False	0	False	19:16034677	0	G	16034677	T	G	16034677	3	3	88	1	0	0	0	0	1	0	0	0	4211	1609	56	4	739	4	CYP4F11	19	16034677	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37598	16034677	43094306	18085	25797											
RAB8A	4218	broad.mit.edu	37	chr19	16232605	16232605	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggacgatcacaacggcctaCtacaggggtgcaatggtagg	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16232605C>A	ENST00000300935.3	+	3	504	c.231C>A	c.(229-231)taC>taA	p.Y77*	RAB8A_ENST00000586682.1_Nonsense_Mutation_p.Y77*	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	77					cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						CAACGGCCTACTACAGGGGTG	0.448													False	0	False	19:16232605	0	A	16232605	C	A	16232605	4	1	88	1	0	0	0	0	0	1	0	0	13035	576	20	3	241	3	RAB8A	19	16232605	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197928	16232605	42896378	18086	25798											
AP1M1	8907	broad.mit.edu	37	chr19	16314368	16314368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggggatgctgtcGcccatcctggcccacggggg	19	11	0	0	rs146062531	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16314368G>A	ENST00000291439.3	+	2	590	c.141G>A	c.(139-141)tcG>tcA	p.S47S	AP1M1_ENST00000444449.2_Silent_p.S47S|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Silent_p.S47S	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	47					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GGATGCTGTCGCCCATCCTGG	0.597													False	0	True	19:16314368	0	A	16314368	G	A	16314368	2	1	88	1	0	0	0	0	0	0	0	1	736	1074	38	1		1	AP1M1	19	16314368	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81763	16314368	42814615	18087	25799											
AP1M1	8907	broad.mit.edu	37	chr19	16339685	16339685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagacgacggtggggagCgttaagtgggtccccgagaa	16	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16339685C>T	ENST00000291439.3	+	9	1442	c.993C>T	c.(991-993)agC>agT	p.S331S	AP1M1_ENST00000444449.2_Silent_p.S343S|AP1M1_ENST00000590756.1_Silent_p.S259S|AP1M1_ENST00000541844.1_Silent_p.S259S|AP1M1_ENST00000429941.2_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	331	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CGGTGGGGAGCGTTAAGTGGG	0.587													False	0	False	19:16339685	0	T	16339685	C	T	16339685	2	4	88	1	0	0	0	0	0	0	0	1	736	767	27	1		1	AP1M1	19	16339685	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25317	16339685	42789298	18088	25800											
C19orf44	84167	broad.mit.edu	37	chr19	16611708	16611708	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagaaatcagaaacttccaGatcagtagaaatcttaccaa	6	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16611708G>T	ENST00000221671.3	+	2	261	c.105G>T	c.(103-105)caG>caT	p.Q35H	C19orf44_ENST00000594035.1_Missense_Mutation_p.Q35H|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	35										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAAACTTCCAGATCAGTAGAA	0.408													False	0	False	19:16611708	0	T	16611708	G	T	16611708	3	4	88	1	0	0	0	0	1	0	0	0	1942	933	33	3	107	3	C19orf44	19	16611708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	272023	16611708	42517275	18089	25801											
C19orf44	84167	broad.mit.edu	37	chr19	16612313	16612313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaaaacacgaatcaagGcttcagcagcgctaacgtca	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16612313G>A	ENST00000221671.3	+	2	866	c.710G>A	c.(709-711)gGc>gAc	p.G237D	C19orf44_ENST00000594035.1_Missense_Mutation_p.G237D|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	237										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ACGAATCAAGGCTTCAGCAGC	0.333													False	0	False	19:16612313	0	A	16612313	G	A	16612313	3	1	88	1	0	0	0	0	1	0	0	0	1942	1203	42	2	712	2	C19orf44	19	16612313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	605	16612313	42516670	18090	25802											
C19orf44	84167	broad.mit.edu	37	chr19	16617541	16617541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatattttatcgcttgacGgtctggctccagctgtcagt	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16617541G>A	ENST00000221671.3	+	4	1261	c.1105G>A	c.(1105-1107)Ggt>Agt	p.G369S	C19orf44_ENST00000594035.1_Missense_Mutation_p.G369S|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	369										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ATCGCTTGACGGTCTGGCTCC	0.323													False	0	False	19:16617541	0	A	16617541	G	A	16617541	3	1	88	1	0	0	0	0	1	0	0	0	1942	1116	39	1	1115	1	C19orf44	19	16617541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5228	16617541	42511442	18091	25803											
C19orf44	84167	broad.mit.edu	37	chr19	16623887	16623887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggacccgacacccatcGccaatcatgttatcagtgca	8	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16623887G>A	ENST00000221671.3	+	6	1858	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	C19orf44_ENST00000594035.1_Intron|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	568										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GACACCCATCGCCAATCATGT	0.572													False	0	False	19:16623887	0	A	16623887	G	A	16623887	3	1	88	1	0	0	0	0	1	0	0	0	1942	1087	38	1	1720	1	C19orf44	19	16623887	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6346	16623887	42505096	18092	25804											
CHERP	10523	broad.mit.edu	37	chr19	16641582	16641582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggggcccacgcacccGggcgatcttctgctgcttgt	14	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16641582G>A	ENST00000546361.2	-	6	935	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R273W	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	262	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CCACGCACCCGGGCGATCTTC	0.697													False	0	True	19:16641582	0	A	16641582	G	A	16641582	3	1	88	1	0	0	0	0	1	0	0	0	3359	1115	39	1	2014	1	CHERP	19	16641582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17695	16641582	42487401	18093	25805											
SLC35E1	79939	broad.mit.edu	37	chr19	16677435	16677435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcccaggatgttgagcaGccggagatggtggatccgtg	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16677435G>A	ENST00000595753.1	-	4	681	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	CTD-3222D19.2_ENST00000409035.1_Silent_p.G415G|SLC35E1_ENST00000431408.1_Silent_p.L66L	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	222					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						ATGTTGAGCAGCCGGAGATGG	0.537													False	0	False	19:16677435	0	A	16677435	G	A	16677435	2	1	88	1	0	0	0	0	0	0	0	1	14664	962	34	2		2	SLC35E1	19	16677435	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35853	16677435	42451548	18094	25806											
MED26	9441	broad.mit.edu	37	chr19	16687637	16687637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcacactgggctttccGcactgggcagcagctcgagc	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16687637G>A	ENST00000263390.3	-	3	1266	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A343V	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	335					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGGGCTTTCCGCACTGGGCAG	0.721													False	0	False	19:16687637	0	A	16687637	G	A	16687637	3	1	88	1	0	0	0	0	1	0	0	0	9511	1087	38	1	802	1	MED26	19	16687637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10202	16687637	42441346	18095	25807											
MED26	9441	broad.mit.edu	37	chr19	16688235	16688235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagccgctgcccgggcaGcctctggaggtcattgcggc	15	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16688235G>A	ENST00000263390.3	-	3	668	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	CTD-3222D19.2_ENST00000409035.1_Silent_p.L144L	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	136					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGCCCGGGCAGCCTCTGGAGG	0.711													False	0	False	19:16688235	0	A	16688235	G	A	16688235	2	1	88	1	0	0	0	0	0	0	0	1	9511	962	34	2		2	MED26	19	16688235	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	598	16688235	42440748	18096	25808											
MED26	9441	broad.mit.edu	37	chr19	16688461	16688461	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgttcttggttttcttgcgGacgtcgttgatgagcttccc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16688461G>A	ENST00000263390.3	-	3	442	c.180C>T	c.(178-180)gtC>gtT	p.V60V	CTD-3222D19.2_ENST00000409035.1_Silent_p.V68V|CTC-429P9.4_ENST00000593962.1_5'UTR	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	60	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TTTTCTTGCGGACGTCGTTGA	0.567													False	0	False	19:16688461	0	A	16688461	G	A	16688461	2	1	88	1	0	0	0	0	0	0	0	1	9511	1161	41	2		2	MED26	19	16688461	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226	16688461	42440522	18097	25809											
TMEM38A	79041	broad.mit.edu	37	chr19	16791297	16791297	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtggccatgaaggaggTggtgcgagtccgcaagatcg	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16791297T>G	ENST00000187762.2	+	3	462	c.371T>G	c.(370-372)gTg>gGg	p.V124G		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	124						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ATGAAGGAGGTGGTGCGAGTC	0.542													False	0	False	19:16791297	0	G	16791297	T	G	16791297	3	3	88	1	0	0	0	0	1	0	0	0	16241	1696	59	4	381	4	TMEM38A	19	16791297	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	102836	16791297	42337686	18098	25810											
NWD1	284434	broad.mit.edu	37	chr19	16899861	16899861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcaaaggattacacgCtgcacttgtggaacttactc	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16899861C>T	ENST00000524140.2	+	13	3218	c.2800C>T	c.(2800-2802)Ctg>Ttg	p.L934L	NWD1_ENST00000523826.1_Silent_p.L728L|NWD1_ENST00000339803.6_Silent_p.L799L|NWD1_ENST00000552788.1_Silent_p.L934L|NWD1_ENST00000549814.1_Silent_p.L934L|NWD1_ENST00000379808.3_Silent_p.L934L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	934							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGATTACACGCTGCACTTGTG	0.493													False	0	False	19:16899861	0	T	16899861	C	T	16899861	2	4	88	1	0	0	0	0	0	0	0	1	10849	796	28	2		2	NWD1	19	16899861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108564	16899861	42229122	18099	25811											
NWD1	284434	broad.mit.edu	37	chr19	16905360	16905360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgagtccctcctcgcCgcaggtagcgtttagctctc	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16905360C>T	ENST00000524140.2	+	15	3718	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	NWD1_ENST00000523826.1_Silent_p.A894A|NWD1_ENST00000339803.6_Silent_p.A965A|NWD1_ENST00000552788.1_Silent_p.A1100A|NWD1_ENST00000549814.1_Silent_p.A1100A|NWD1_ENST00000379808.3_Silent_p.A1100A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1100							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCTCCTCGCCGCAGGTAGCG	0.547													False	0	False	19:16905360	0	T	16905360	C	T	16905360	2	4	88	1	0	0	0	0	0	0	0	1	10849	639	23	1		1	NWD1	19	16905360	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5499	16905360	42223623	18100	25812											
NWD1	284434	broad.mit.edu	37	chr19	16926085	16926085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacttggagtcagaaagtgCccagggaaatgaaaccaaat	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16926085C>T	ENST00000552788.1	+	18	4640	c.4640C>T	c.(4639-4641)gCc>gTc	p.A1547V	NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000523826.1_Missense_Mutation_p.A1341V|NWD1_ENST00000339803.6_Missense_Mutation_p.A1412V|NWD1_ENST00000549814.1_Missense_Mutation_p.A1505V|NWD1_ENST00000379808.3_3'UTR			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1547							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCAGAAAGTGCCCAGGGAAAT	0.458													False	0	True	19:16926085	0	T	16926085	C	T	16926085	3	4	88	1	0	0	0	0	1	0	0	0	10849	739	26	2	4297	2	NWD1	19	16926085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20725	16926085	42202898	18101	25813											
SIN3B	23309	broad.mit.edu	37	chr19	16977334	16977334	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggccctgcgctccaagagCttgctcaacgagatcgagag	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16977334C>T	ENST00000379803.1	+	13	1883	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	SIN3B_ENST00000248054.5_Silent_p.S591S|SIN3B_ENST00000595541.1_Silent_p.S181S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	623					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTCCAAGAGCTTGCTCAACG	0.622													False	0	False	19:16977334	0	T	16977334	C	T	16977334	2	4	88	1	0	0	0	0	0	0	0	1	14407	796	28	2		2	SIN3B	19	16977334	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51249	16977334	42151649	18102	25814											
SIN3B	23309	broad.mit.edu	37	chr19	16987345	16987345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcatgaccatcgagctcCtggacaccgaggaggcccag	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16987345C>T	ENST00000379803.1	+	17	2925	c.2911C>T	c.(2911-2913)Ctg>Ttg	p.L971L	SIN3B_ENST00000248054.5_Silent_p.L939L|SIN3B_ENST00000595541.1_Silent_p.L529L	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	971					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CATCGAGCTCCTGGACACCGA	0.667													False	0	False	19:16987345	0	T	16987345	C	T	16987345	2	4	88	1	0	0	0	0	0	0	0	1	14407	680	24	2		2	SIN3B	19	16987345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10011	16987345	42141638	18103	25815											
F2RL3	9002	broad.mit.edu	37	chr19	17001352	17001352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggctcttccaacggtcgCcgggggacaccgtggcctcc	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17001352C>A	ENST00000248076.3	+	2	1408	c.1078C>A	c.(1078-1080)Ccg>Acg	p.P360T		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	360					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAACGGTCGCCGGGGGACAC	0.647													False	0	False	19:17001352	0	A	17001352	C	A	17001352	3	1	88	1	0	0	0	0	1	0	0	0	5379	739	26	3	1084	3	F2RL3	19	17001352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14007	17001352	42127631	18104	25816											
CPAMD8	27151	broad.mit.edu	37	chr19	17010326	17010326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcgtccagccacttcaTacctcttcatccccatgtgc	6	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17010326T>C	ENST00000443236.1	-	37	4980	c.4949A>G	c.(4948-4950)tAt>tGt	p.Y1650C		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1603						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCACTTCATACCTCTTCAT	0.577													False	0	False	19:17010326	0	C	17010326	T	C	17010326	3	2	88	1	0	0	0	0	1	0	0	0	3818	1406	49	4	873	4	CPAMD8	19	17010326	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8974	17010326	42118657	18105	25817											
CPAMD8	27151	broad.mit.edu	37	chr19	17132946	17132946	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtcacgctgatgacttcCtccacgcccgcgcgaaaaac	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17132946C>A	ENST00000443236.1	-	2	310	c.279G>T	c.(277-279)gaG>gaT	p.E93D	CPAMD8_ENST00000388925.4_Missense_Mutation_p.E46D	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	46						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGATGACTTCCTCCACGCCCG	0.602													False	0	False	19:17132946	0	A	17132946	C	A	17132946	3	1	88	1	0	0	0	0	1	0	0	0	3818	680	24	3	5683	3	CPAMD8	19	17132946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122620	17132946	41996037	18106	25818											
HAUS8	93323	broad.mit.edu	37	chr19	17166810	17166810	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgaaggggctgagcatctcGatctgtaagcagaagggata	14	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17166810G>A	ENST00000593360.1	-	8	2483	c.465C>T	c.(463-465)atC>atT	p.I155I	HAUS8_ENST00000253669.5_Silent_p.I216I|HAUS8_ENST00000448593.2_Silent_p.I215I			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	216					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TGAGCATCTCGATCTGTAAGC	0.562													False	0	False	19:17166810	0	A	17166810	G	A	17166810	2	1	88	1	0	0	0	0	0	0	0	1	7019	1048	37	1		1	HAUS8	19	17166810	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33864	17166810	41962173	18107	25819											
HAUS8	93323	broad.mit.edu	37	chr19	17169681	17169682	+	Frame_Shift_Ins	INS	-	-	GG													tcatttccattgcttcagatINSaaatccttaagaaaagaaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17169681_17169682insGG	ENST00000593360.1	-	6	2260_2261	c.242_243insCC	c.(241-243)ttafs	p.L81fs	HAUS8_ENST00000253669.5_Frame_Shift_Ins_p.L142fs|HAUS8_ENST00000448593.2_Frame_Shift_Ins_p.L141fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	142					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TTGCTTCAGATAAATCCTTAAG	0.426													False	0	True	19:17169681	0	GG	17169682	-	GG	17169681	7	5	88	1	0	1	1	0	0	0	0	0	7019	1403	49	0	826	0	HAUS8	19	17169681	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	2871	17169681	41959302	18108	25820	270	2									
HAUS8	93323	broad.mit.edu	37	chr19	17169682	17169683	+	Frame_Shift_Ins	INS	-	-	GAAC													catttccattgcttcagataINSaatccttaagaaaagaaaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17169682_17169683insGAAC	ENST00000593360.1	-	6	2259_2260	c.241_242insGTTC	c.(241-243)ttafs	p.L81fs	HAUS8_ENST00000253669.5_Frame_Shift_Ins_p.L142fs|HAUS8_ENST00000448593.2_Frame_Shift_Ins_p.L141fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	142					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TGCTTCAGATAAATCCTTAAGA	0.426													False	0	True	19:17169682	0	GAAC	17169683	-	GAAC	17169682	7	5	88	1	0	1	1	0	0	0	0	0	7019	372	13	0	827	0	HAUS8	19	17169682	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1	17169682	41959301	18109	25821	270	2									
MYO9B	4650	broad.mit.edu	37	chr19	17212778	17212778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggacgccaacgactcgcCtgtgcaccgggtgctgctat	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17212778C>A	ENST00000595618.1	+	2	403	c.251C>A	c.(250-252)cCt>cAt	p.P84H	MYO9B_ENST00000594824.1_Missense_Mutation_p.P84H|MYO9B_ENST00000397274.2_Missense_Mutation_p.P84H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	84	Myosin head-like.|Ras-associating.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AACGACTCGCCTGTGCACCGG	0.637													False	0	False	19:17212778	0	A	17212778	C	A	17212778	3	1	88	1	0	0	0	0	1	0	0	0	10152	681	24	3	253	3	MYO9B	19	17212778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43096	17212778	41916205	18110	25822											
NR2F6	2063	broad.mit.edu	37	chr19	17343433	17343433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtctgagaggccacaggCgtctagggggacaaaggcaa	17	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17343433C>T	ENST00000291442.3	-	4	1662	c.943G>A	c.(943-945)Gcc>Acc	p.A315T		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	315	Ligand-binding (By similarity).				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						AGGCCACAGGCGTCTAGGGGG	0.642													False	0	False	19:17343433	0	T	17343433	C	T	17343433	3	4	88	1	0	0	0	0	1	0	0	0	10697	768	27	1	275	1	NR2F6	19	17343433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130655	17343433	41785550	18111	25823											
USHBP1	83878	broad.mit.edu	37	chr19	17369103	17369103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgcttccttttcagctgCttgcaggtcactcatggggg	11	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17369103C>T	ENST00000252597.3	-	8	1311	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	USHBP1_ENST00000431146.2_Missense_Mutation_p.A316T	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	380							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTTTCAGCTGCTTGCAGGTCA	0.592													False	0	False	19:17369103	0	T	17369103	C	T	17369103	3	4	88	1	0	0	0	0	1	0	0	0	17121	797	28	2	997	2	USHBP1	19	17369103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25670	17369103	41759880	18112	25824											
USHBP1	83878	broad.mit.edu	37	chr19	17373371	17373371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccactcacctctttctgcAgcgtctccttctcagctcgg	6	19	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17373371A>G	ENST00000252597.3	-	4	805	c.632T>C	c.(631-633)cTg>cCg	p.L211P	USHBP1_ENST00000431146.2_Missense_Mutation_p.L147P	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	211							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTCTTTCTGCAGCGTCTCCTT	0.592													False	0	False	19:17373371	0	G	17373371	A	G	17373371	3	3	88	1	0	0	0	0	1	0	0	0	17121	188	7	4	1519	4	USHBP1	19	17373371	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4268	17373371	41755612	18113	25825											
USHBP1	83878	broad.mit.edu	37	chr19	17373654	17373654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctggagggtctgaaacacatCgggggccccattcccagggg	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17373654C>A	ENST00000252597.3	-	4	522	c.349G>T	c.(349-351)Gat>Tat	p.D117Y	USHBP1_ENST00000431146.2_Missense_Mutation_p.D53Y|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	117							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGAAACACATCGGGGGCCCCA	0.652													False	0	True	19:17373654	0	A	17373654	C	A	17373654	3	1	88	1	0	0	0	0	1	0	0	0	17121	884	31	3	1802	3	USHBP1	19	17373654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283	17373654	41755329	18114	25826											
ABHD8	79575	broad.mit.edu	37	chr19	17405187	17405187	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acggtgagctcggcgtggtaGacctcgtcgccctcgggcca	15	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17405187G>A	ENST00000247706.3	-	4	1298	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	353							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CGGCGTGGTAGACCTCGTCGC	0.617													False	0	False	19:17405187	0	A	17405187	G	A	17405187	2	1	88	1	0	0	0	0	0	0	0	1	87	929	33	2		2	ABHD8	19	17405187	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31533	17405187	41723796	18115	25827											
ANO8	57719	broad.mit.edu	37	chr19	17435885	17435885	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccagtgaggatgtggcccctGacgagaggaatttgccctgc	14	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17435885G>A	ENST00000159087.4	-	17	3130	c.2972C>T	c.(2971-2973)tCa>tTa	p.S991L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	991						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TGTGGCCCCTGACGAGAGGAA	0.667													False	0	False	19:17435885	0	A	17435885	G	A	17435885	3	1	88	1	0	0	0	0	1	0	0	0	703	1294	45	2	734	2	ANO8	19	17435885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30698	17435885	41693098	18116	25828											
ANO8	57719	broad.mit.edu	37	chr19	17442206	17442206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggatgatcccacgtgCtgccagctccgggactgtgg	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17442206C>T	ENST00000159087.4	-	6	759	c.601G>A	c.(601-603)Gca>Aca	p.A201T		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	201						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						ATCCCACGTGCTGCCAGCTCC	0.602													False	0	False	19:17442206	0	T	17442206	C	T	17442206	3	4	88	1	0	0	0	0	1	0	0	0	703	797	28	2	3149	2	ANO8	19	17442206	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6321	17442206	41686777	18117	25829											
ANO8	57719	broad.mit.edu	37	chr19	17443792	17443792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgcttctccctgcttgGcacgcaaattctgcagccag	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17443792G>A	ENST00000159087.4	-	5	691	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	178						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TCCCTGCTTGGCACGCAAATT	0.602													False	0	False	19:17443792	0	A	17443792	G	A	17443792	3	1	88	1	0	0	0	0	1	0	0	0	703	1203	42	2	3221	2	ANO8	19	17443792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1586	17443792	41685191	18118	25830											
GTPBP3	84705	broad.mit.edu	37	chr19	17448962	17448962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgccctccgaattctcacaGcaccccgagacctgcccctt	6	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17448962G>T	ENST00000324894.8	+	2	267	c.199G>T	c.(199-201)Gca>Tca	p.A67S	GTPBP3_ENST00000361619.5_Missense_Mutation_p.A89S|GTPBP3_ENST00000358792.7_Missense_Mutation_p.A67S|GTPBP3_ENST00000600625.1_Missense_Mutation_p.A67S|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	67					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						AATTCTCACAGCACCCCGAGA	0.711													False	0	False	19:17448962	0	T	17448962	G	T	17448962	3	4	88	1	0	0	0	0	1	0	0	0	6928	971	34	3	205	3	GTPBP3	19	17448962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5170	17448962	41680021	18119	25831											
GTPBP3	84705	broad.mit.edu	37	chr19	17449816	17449816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaggatgacaacctggaGgagggggtcctggagcaagg	20	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17449816G>A	ENST00000324894.8	+	5	713	c.645G>A	c.(643-645)gaG>gaA	p.E215E	GTPBP3_ENST00000361619.5_Silent_p.E237E|GTPBP3_ENST00000358792.7_Silent_p.E215E|GTPBP3_ENST00000600625.1_Silent_p.E215E|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	215					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						ACAACCTGGAGGAGGGGGTCC	0.622													False	0	False	19:17449816	0	A	17449816	G	A	17449816	2	1	88	1	0	0	0	0	0	0	0	1	6928	991	35	2		2	GTPBP3	19	17449816	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	854	17449816	41679167	18120	25832											
GTPBP3	84705	broad.mit.edu	37	chr19	17450356	17450356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcgacacggctgggttgCgggagggcgtggggcccgtg	22	9	0	1	rs151131704		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17450356C>T	ENST00000324894.8	+	7	990	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	GTPBP3_ENST00000361619.5_Missense_Mutation_p.R330W|GTPBP3_ENST00000358792.7_Missense_Mutation_p.R340W|GTPBP3_ENST00000600625.1_Missense_Mutation_p.R308W|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	308					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GGCTGGGTTGCGGGAGGGCGT	0.716													False	0	True	19:17450356	0	T	17450356	C	T	17450356	3	4	88	1	0	0	0	0	1	0	0	0	6928	759	27	1	1040	1	GTPBP3	19	17450356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	540	17450356	41678627	18121	25833											
GTPBP3	84705	broad.mit.edu	37	chr19	17452019	17452019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagtcggacctgctgtccCcggagggcccaggtcccggt	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17452019C>T	ENST00000324894.8	+	8	1209	c.1141C>T	c.(1141-1143)Ccg>Tcg	p.P381S	GTPBP3_ENST00000361619.5_Missense_Mutation_p.P403S|GTPBP3_ENST00000358792.7_Missense_Mutation_p.P413S|GTPBP3_ENST00000600625.1_Missense_Mutation_p.P360S|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	381					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CCTGCTGTCCCCGGAGGGCCC	0.687													False	0	True	19:17452019	0	T	17452019	C	T	17452019	3	4	88	1	0	0	0	0	1	0	0	0	6928	623	22	2	1263	2	GTPBP3	19	17452019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1663	17452019	41676964	18122	25834											
PLVAP	83483	broad.mit.edu	37	chr19	17487909	17487909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccctcggctcggcgctcGgtggcctgcaggttggactc	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17487909G>A	ENST00000252590.4	-	1	250	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	63						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCGGCGCTCGGTGGCCTGCA	0.597													False	0	False	19:17487909	0	A	17487909	G	A	17487909	2	1	88	1	0	0	0	0	0	0	0	1	12185	1103	39	1		1	PLVAP	19	17487909	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35890	17487909	41641074	18123	25835											
BST2	684	broad.mit.edu	37	chr19	17516300	17516300	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacgatgatcaggagcaccaGaattcctatccccagcagaa	8	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17516300G>A	ENST00000252593.6	-	1	157	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	BST2_ENST00000527220.1_5'UTR	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	29					B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						AGGAGCACCAGAATTCCTATC	0.542													False	0	False	19:17516300	0	A	17516300	G	A	17516300	2	1	88	1	0	0	0	0	0	0	0	1	1541	933	33	2		2	BST2	19	17516300	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28391	17516300	41612683	18124	25836											
SLC27A1	376497	broad.mit.edu	37	chr19	17581359	17581359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttccccaggatgcgggctCcgggtgcgggcgcggcctcg	18	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17581359C>T	ENST00000252595.7	+	1	107	c.10C>T	c.(10-12)Ccg>Tcg	p.P4S	SLC27A1_ENST00000598424.1_5'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.P4S	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	4					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GATGCGGGCTCCGGGTGCGGG	0.771													False	0	False	19:17581359	0	T	17581359	C	T	17581359	3	4	88	1	0	0	0	0	1	0	0	0	14605	855	30	2	12	2	SLC27A1	19	17581359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65059	17581359	41547624	18125	25837											
SLC27A1	376497	broad.mit.edu	37	chr19	17615330	17615330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacgccagacctcagaccGgctcttcttcctggacctga	8	18	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17615330G>A	ENST00000252595.7	+	12	1947	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	SLC27A1_ENST00000598424.1_Missense_Mutation_p.R438Q|SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R617Q	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	617					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ACCTCAGACCGGCTCTTCTTC	0.597													False	0	False	19:17615330	0	A	17615330	G	A	17615330	3	1	88	1	0	0	0	0	1	0	0	0	14605	1116	39	1	1896	1	SLC27A1	19	17615330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33971	17615330	41513653	18126	25838											
PGLS	25796	broad.mit.edu	37	chr19	17628198	17628198	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagaccaccccctcctacaGgtgagcacaccaatgcgggg	10	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17628198G>T	ENST00000252603.2	+	3	542	c.498G>T	c.(496-498)caG>caT	p.Q166H		NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	166						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						CCCTCCTACAGGTGAGCACAC	0.622													False	0	False	19:17628198	0	T	17628198	G	T	17628198	5	4	88	1	0	0	0	0	0	0	1	0	11861	1014	35	3	508	3	PGLS	19	17628198	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12868	17628198	41500785	18127	25839											
FAM129C	199786	broad.mit.edu	37	chr19	17648286	17648286	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcacctctgcttctctgcaGccaccagggaggcacagcat	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17648286G>T	ENST00000335393.4	+	6	760	c.622G>T	c.(622-624)Gcc>Tcc	p.A208S	FAM129C_ENST00000600871.1_Missense_Mutation_p.A154S|FAM129C_ENST00000300971.2_Missense_Mutation_p.A208S|FAM129C_ENST00000352727.3_Missense_Mutation_p.A208S|FAM129C_ENST00000595684.1_Missense_Mutation_p.A208S|FAM129C_ENST00000599124.1_Missense_Mutation_p.A177S|FAM129C_ENST00000599164.1_Missense_Mutation_p.A177S|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000332386.5_Missense_Mutation_p.A208S|FAM129C_ENST00000601861.1_Missense_Mutation_p.A177S	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	208										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTTCTCTGCAGCCACCAGGGA	0.632													False	0	False	19:17648286	0	T	17648286	G	T	17648286	3	4	88	1	0	0	0	0	1	0	0	0	5474	971	34	3	644	3	FAM129C	19	17648286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20088	17648286	41480697	18128	25840											
UNC13A	23025	broad.mit.edu	37	chr19	17735744	17735744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacagtcttctcacagattTtggcaaagagggtcaggctg	12	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17735744T>C	ENST00000428389.2	-	36	4354	c.4355A>G	c.(4354-4356)aAa>aGa	p.K1452R	UNC13A_ENST00000252773.7_Missense_Mutation_p.K1364R|UNC13A_ENST00000551649.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000519716.2_Missense_Mutation_p.K1364R|UNC13A_ENST00000550896.1_Missense_Mutation_p.K1362R			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1364	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCACAGATTTTGGCAAAGAG	0.582													False	0	True	19:17735744	0	C	17735744	T	C	17735744	3	2	88	1	0	0	0	0	1	0	0	0	17068	1841	64	4	1056	4	UNC13A	19	17735744	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87458	17735744	41393239	18129	25841											
UNC13A	23025	broad.mit.edu	37	chr19	17751421	17751421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagcagggtgctcatgaCggcaggcacccctgggcaca	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17751421C>T	ENST00000428389.2	-	23	2949	c.2950G>A	c.(2950-2952)Gtc>Atc	p.V984I	UNC13A_ENST00000252773.7_Missense_Mutation_p.V896I|UNC13A_ENST00000551649.1_Missense_Mutation_p.V896I|UNC13A_ENST00000552293.1_Missense_Mutation_p.V896I|UNC13A_ENST00000519716.2_Missense_Mutation_p.V896I|UNC13A_ENST00000550896.1_Missense_Mutation_p.V894I			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	896					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTGCTCATGACGGCAGGCACC	0.627													False	0	True	19:17751421	0	T	17751421	C	T	17751421	3	4	88	1	0	0	0	0	1	0	0	0	17068	536	19	1	2513	1	UNC13A	19	17751421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15677	17751421	41377562	18130	25842											
UNC13A	23025	broad.mit.edu	37	chr19	17752235	17752235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggactcgacgccgtagCgcatggcaaactcgtccaca	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17752235C>T	ENST00000428389.2	-	22	2866	c.2867G>A	c.(2866-2868)cGc>cAc	p.R956H	UNC13A_ENST00000252773.7_Missense_Mutation_p.R868H|UNC13A_ENST00000551649.1_Missense_Mutation_p.R868H|UNC13A_ENST00000552293.1_Missense_Mutation_p.R868H|UNC13A_ENST00000519716.2_Missense_Mutation_p.R868H|UNC13A_ENST00000550896.1_Missense_Mutation_p.R866H			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	868					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GACGCCGTAGCGCATGGCAAA	0.572													False	0	False	19:17752235	0	T	17752235	C	T	17752235	3	4	88	1	0	0	0	0	1	0	0	0	17068	768	27	1	2600	1	UNC13A	19	17752235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	814	17752235	41376748	18131	25843											
UNC13A	23025	broad.mit.edu	37	chr19	17756803	17756803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaattctcctcccacaccGggttgaggttcccatagatg	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17756803G>A	ENST00000428389.2	-	19	2425	c.2426C>T	c.(2425-2427)cCg>cTg	p.P809L	UNC13A_ENST00000252773.7_Missense_Mutation_p.P721L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P721L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P721L|UNC13A_ENST00000519716.2_Missense_Mutation_p.P721L|UNC13A_ENST00000550896.1_Missense_Mutation_p.P719L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	721					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCCCACACCGGGTTGAGGTT	0.572													False	0	True	19:17756803	0	A	17756803	G	A	17756803	3	1	88	1	0	0	0	0	1	0	0	0	17068	1116	39	1	3053	1	UNC13A	19	17756803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4568	17756803	41372180	18132	25844											
UNC13A	23025	broad.mit.edu	37	chr19	17766716	17766716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtccttgggtggctcaGcctcagggatctgctcagct	12	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17766716G>A	ENST00000428389.2	-	11	1522	c.1523C>T	c.(1522-1524)gCt>gTt	p.A508V	UNC13A_ENST00000252773.7_Missense_Mutation_p.A420V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A420V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A420V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A420V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A420V			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	420					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGTGGCTCAGCCTCAGGGAT	0.677													False	0	False	19:17766716	0	A	17766716	G	A	17766716	3	1	88	1	0	0	0	0	1	0	0	0	17068	971	34	2	3984	2	UNC13A	19	17766716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9913	17766716	41362267	18133	25845											
MAP1S	55201	broad.mit.edu	37	chr19	17836832	17836832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcgaattcctggagtaCgtggctgagtctctggagcc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17836832C>T	ENST00000324096.4	+	5	790	c.639C>T	c.(637-639)taC>taT	p.Y213Y	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.Y187Y	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	213	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCCTGGAGTACGTGGCTGAGT	0.701													False	0	False	19:17836832	0	T	17836832	C	T	17836832	2	4	88	1	0	0	0	0	0	0	0	1	9301	547	19	1		1	MAP1S	19	17836832	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70116	17836832	41292151	18134	25846											
MAP1S	55201	broad.mit.edu	37	chr19	17837219	17837219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtgttcttcaacgcctgCgaggccgcgtcgcggctggc	15	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17837219C>T	ENST00000324096.4	+	5	1177	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.C316C	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	342	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCAACGCCTGCGAGGCCGCGT	0.731													False	0	False	19:17837219	0	T	17837219	C	T	17837219	2	4	88	1	0	0	0	0	0	0	0	1	9301	776	27	1		1	MAP1S	19	17837219	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	387	17837219	41291764	18135	25847											
FCHO1	23149	broad.mit.edu	37	chr19	17873639	17873639	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcccatctccaccaaggaGctggcggacttcatccggga	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17873639G>A	ENST00000595033.1	+	0	186				FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000594202.1_Silent_p.E32E|FCHO1_ENST00000596536.1_Silent_p.E32E|FCHO1_ENST00000389133.4_Silent_p.E32E|FCHO1_ENST00000597512.1_Silent_p.E39E|FCHO1_ENST00000596951.1_Silent_p.E32E|FCHO1_ENST00000539407.1_Silent_p.E32E|FCHO1_ENST00000600676.1_Silent_p.E32E|FCHO1_ENST00000252771.7_Silent_p.E32E	NM_001161359.1	NP_001154831.1	O14526	FCHO1_HUMAN	FCH domain only 1											NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCACCAAGGAGCTGGCGGACT	0.597													False	0	False	19:17873639	0	A	17873639	G	A	17873639	1	1	88	1	0	0	0	0	0	0	0	0	5827	962	34	2		2	FCHO1	19	17873639	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36420	17873639	41255344	18136	25848											
FCHO1	23149	broad.mit.edu	37	chr19	17895033	17895033	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctactacaacgtggtgctgCtgcgataccaggtgcgccac	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17895033C>A	ENST00000594202.1	+	25	2494	c.2215C>A	c.(2215-2217)Ctg>Atg	p.L739M	FCHO1_ENST00000596536.1_Missense_Mutation_p.L739M|FCHO1_ENST00000389133.4_Missense_Mutation_p.L739M|FCHO1_ENST00000597512.1_Missense_Mutation_p.L746M|FCHO1_ENST00000596951.1_Missense_Mutation_p.L739M|FCHO1_ENST00000595033.1_Missense_Mutation_p.L689M|FCHO1_ENST00000539407.1_Missense_Mutation_p.L739M|FCHO1_ENST00000600676.1_Missense_Mutation_p.L739M|FCHO1_ENST00000252771.7_Missense_Mutation_p.L739M	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	739										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGTGGTGCTGCTGCGATACCA	0.652											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:17895033	0	A	17895033	C	A	17895033	3	1	88	1	0	0	0	0	1	0	0	0	5827	796	28	3	2301	3	FCHO1	19	17895033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21394	17895033	41233950	18137	25849											
B3GNT3	10331	broad.mit.edu	37	chr19	17919059	17919059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctcctcttcctggtggGcacagcctccaacccgcacg	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17919059G>A	ENST00000318683.6	+	2	590	c.443G>A	c.(442-444)gGc>gAc	p.G148D	B3GNT3_ENST00000595387.1_Missense_Mutation_p.G148D	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	148					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TTCCTGGTGGGCACAGCCTCC	0.672													False	0	True	19:17919059	0	A	17919059	G	A	17919059	3	1	88	1	0	0	0	0	1	0	0	0	1262	1203	42	2	445	2	B3GNT3	19	17919059	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24026	17919059	41209924	18138	25850											
JAK3	3718	broad.mit.edu	37	chr19	17937567	17937567	+	Silent	SNP	G	G	T													aggagctatgaaaaggacagGgagtggtgtttgccctctgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17937567G>T	ENST00000458235.1	-	24	3459	c.3360C>A	c.(3358-3360)tcC>tcA	p.S1120S	JAK3_ENST00000527670.1_Silent_p.S1120S	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	1120					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AAAAGGACAGGGAGTGGTGTT	0.617		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								False	0	True	19:17937567	0	T	17937567	G	T	17937567	2	4	88	1	0	0	0	0	0	0	0	1	7989	1219	43	3		3	JAK3	19	17937567	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18508	17937567	41191416	18139	25851	271	2									
JAK3	3718	broad.mit.edu	37	chr19	17937570	17937570	+	Silent	SNP	G	G	A													agctatgaaaaggacagggaGtggtgtttgccctctgggtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17937570G>A	ENST00000458235.1	-	24	3456	c.3357C>T	c.(3355-3357)caC>caT	p.H1119H	JAK3_ENST00000527670.1_Silent_p.H1119H	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	1119					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGGACAGGGAGTGGTGTTTGC	0.617		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								False	0	False	19:17937570	0	A	17937570	G	A	17937570	2	1	88	1	0	0	0	0	0	0	0	1	7989	1020	36	2		2	JAK3	19	17937570	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3	17937570	41191413	18140	25852	271	2									
JAK3	3718	broad.mit.edu	37	chr19	17943451	17943451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgcagctgtttcacggCcaccagggcacctgtattgt	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17943451C>T	ENST00000458235.1	-	19	2656	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	JAK3_ENST00000534444.1_Missense_Mutation_p.A853T|JAK3_ENST00000527670.1_Missense_Mutation_p.A853T	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	853	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGTTTCACGGCCACCAGGGCA	0.582		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								False	0	False	19:17943451	0	T	17943451	C	T	17943451	3	4	88	1	0	0	0	0	1	0	0	0	7989	739	26	2	841	2	JAK3	19	17943451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5881	17943451	41185532	18141	25853											
JAK3	3718	broad.mit.edu	37	chr19	17945726	17945726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcccagaccgtggcgcCgaagccccacttgtcagctt	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17945726C>T	ENST00000458235.1	-	16	2233	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	JAK3_ENST00000534444.1_Missense_Mutation_p.G712S|JAK3_ENST00000527670.1_Missense_Mutation_p.G712S	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	712	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						ACCGTGGCGCCGAAGCCCCAC	0.622		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								False	0	False	19:17945726	0	T	17945726	C	T	17945726	3	4	88	1	0	0	0	0	1	0	0	0	7989	652	23	1	1276	1	JAK3	19	17945726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2275	17945726	41183257	18142	25854											
JAK3	3718	broad.mit.edu	37	chr19	17945947	17945947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactcagcttgatgaagggCgggctcccatcagccccctc	10	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17945947C>T	ENST00000458235.1	-	15	2091	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_ENST00000534444.1_Silent_p.P664P|JAK3_ENST00000527670.1_Silent_p.P664P	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	664	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGATGAAGGGCGGGCTCCCAT	0.637		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								False	0	True	19:17945947	0	T	17945947	C	T	17945947	2	4	88	1	0	0	0	0	0	0	0	1	7989	755	27	1		1	JAK3	19	17945947	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221	17945947	41183036	18143	25855											
JAK3	3718	broad.mit.edu	37	chr19	17946822	17946822	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acgttttcgcagatacatgtCtatggcccccaggtgtacaa	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17946822C>A	ENST00000458235.1	-	14	1924	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	JAK3_ENST00000534444.1_Missense_Mutation_p.D609Y|JAK3_ENST00000527670.1_Missense_Mutation_p.D609Y	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	609	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGATACATGTCTATGGCCCCC	0.582		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								False	0	False	19:17946822	0	A	17946822	C	A	17946822	3	1	88	1	0	0	0	0	1	0	0	0	7989	913	32	3	1593	3	JAK3	19	17946822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	875	17946822	41182161	18144	25856											
RPL18A	6142	broad.mit.edu	37	chr19	17973031	17973031	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcgctgtcacccagtgCtgtaagctgcctgtcccgcc	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17973031C>A	ENST00000600147.1	+	3	363	c.327C>A	c.(325-327)tgC>tgA	p.C109*	RPL18A_ENST00000222247.5_Splice_Site_p.C109*|RPL18A_ENST00000599898.1_Splice_Site_p.C70*|RPL18A_ENST00000599870.1_Splice_Site_p.C80*			Q02543	RL18A_HUMAN	ribosomal protein L18a	109					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TCACCCAGTGCTGTAAGCTGC	0.607													False	0	False	19:17973031	0	A	17973031	C	A	17973031	5	1	88	1	0	0	0	0	0	0	1	0	13644	811	28	3	337	3	RPL18A	19	17973031	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26209	17973031	41155952	18145	25857											
SLC5A5	6528	broad.mit.edu	37	chr19	17988625	17988625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtatggcgtgaaccaggcGcaggtgcagcgctacgtggc	16	10	0	1	rs148887708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17988625G>A	ENST00000222248.3	+	6	1139	c.792G>A	c.(790-792)gcG>gcA	p.A264A		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	264					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGAACCAGGCGCAGGTGCAGC	0.607													False	0	False	19:17988625	0	A	17988625	G	A	17988625	2	1	88	1	0	0	0	0	0	0	0	1	14748	1074	38	1		1	SLC5A5	19	17988625	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15594	17988625	41140358	18146	25858											
SLC5A5	6528	broad.mit.edu	37	chr19	17988836	17988836	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgctgcctgctgtggcatCgtcatgtttgtgttctacac	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17988836C>T	ENST00000222248.3	+	7	1250	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	301					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCTGTGGCATCGTCATGTTTG	0.627													False	0	False	19:17988836	0	T	17988836	C	T	17988836	2	4	88	1	0	0	0	0	0	0	0	1	14748	874	31	1		1	SLC5A5	19	17988836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211	17988836	41140147	18147	25859											
CCDC124	115098	broad.mit.edu	37	chr19	18054174	18054174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccatcgaggacgccattGcagtgctcaggtaacggggc	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18054174G>A	ENST00000597436.1	+	4	561	c.454G>A	c.(454-456)Gca>Aca	p.A152T	CCDC124_ENST00000445755.2_Missense_Mutation_p.A152T	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	152							DNA binding			central_nervous_system(1)|kidney(2)	3						GGACGCCATTGCAGTGCTCAG	0.701													False	0	False	19:18054174	0	A	18054174	G	A	18054174	3	1	88	1	0	0	0	0	1	0	0	0	2780	1319	46	2	464	2	CCDC124	19	18054174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65338	18054174	41074809	18148	25860											
KCNN1	3780	broad.mit.edu	37	chr19	18092875	18092875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatctgccccggcaccgtgCtgctggtcttcagcatctcc	9	18	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18092875C>A	ENST00000222249.9	+	5	1175	c.856C>A	c.(856-858)Ctg>Atg	p.L286M		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						CGGCACCGTGCTGCTGGTCTT	0.667													False	0	False	19:18092875	0	A	18092875	C	A	18092875	3	1	88	1	0	0	0	0	1	0	0	0	8128	796	28	3	866	3	KCNN1	19	18092875	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38701	18092875	41036108	18149	25861											
ARRDC2	27106	broad.mit.edu	37	chr19	18119532	18119532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcagataccggggagaCcacgacgctgcctcctgggc	13	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18119532C>T	ENST00000379656.3	+	2	455	c.272C>T	c.(271-273)aCc>aTc	p.T91I	ARRDC2_ENST00000608009.1_3'UTR|ARRDC2_ENST00000222250.4_Missense_Mutation_p.T96I	NM_001025604.1	NP_001020775.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2											endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						ACCGGGGAGACCACGACGCTG	0.657													False	0	False	19:18119532	0	T	18119532	C	T	18119532	3	4	88	1	0	0	0	0	1	0	0	0	987	507	18	2	556	2	ARRDC2	19	18119532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26657	18119532	41009451	18150	25862											
IL12RB1	0	broad.mit.edu	37	chr19	18187135	18187135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctgaggtccgcagtcGccctagaataaaaacatatt	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18187135G>A	ENST00000600835.2	-	7	850	c.552C>T	c.(550-552)ggC>ggT	p.G184G	IL12RB1_ENST00000593993.2_Silent_p.G184G|IL12RB1_ENST00000322153.7_Silent_p.G184G			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1		Fibronectin type-III 2.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	p.G184G(3)		endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GTCCGCAGTCGCCCTAGAATA	0.333													False	0	True	19:18187135	0	A	18187135	G	A	18187135	2	1	88	1	0	0	0	0	0	0	0	1	7676	1074	38	1		1	IL12RB1	19	18187135	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67603	18187135	40941848	18151	25863											
MAST3	23031	broad.mit.edu	37	chr19	18239701	18239701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctggtcggccagtcacGgaggaagccatgcgaaagcg	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18239701G>A	ENST00000262811.6	+	12	1076	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3								ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGCCAGTCACGGAGGAAGCCA	0.597													False	0	False	19:18239701	0	A	18239701	G	A	18239701	3	1	88	1	0	0	0	0	1	0	0	0	9393	1116	39	1	1122	1	MAST3	19	18239701	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52566	18239701	40889282	18152	25864											
MAST3	23031	broad.mit.edu	37	chr19	18245404	18245404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtctgctcatcacctcGcttggccacatcaagctcac	6	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18245404G>A	ENST00000262811.6	+	15	1500	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3		Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCATCACCTCGCTTGGCCACA	0.627													False	0	False	19:18245404	0	A	18245404	G	A	18245404	2	1	88	1	0	0	0	0	0	0	0	1	9393	1074	38	1		1	MAST3	19	18245404	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5703	18245404	40883579	18153	25865											
MAST3	23031	broad.mit.edu	37	chr19	18249831	18249831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctccctcccacagcacgttCggaacgttaccgccatctgg	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249831C>T	ENST00000262811.6	+	19	2015	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3		AGC-kinase C-terminal.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ACAGCACGTTCGGAACGTTAC	0.597													False	0	False	19:18249831	0	T	18249831	C	T	18249831	3	4	88	1	0	0	0	0	1	0	0	0	9393	893	31	1	2089	1	MAST3	19	18249831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4427	18249831	40879152	18154	25866											
MAST3	23031	broad.mit.edu	37	chr19	18249857	18249857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttaccgccatctgggctccGaggacgacgagaccaatgat	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249857G>A	ENST00000262811.6	+	19	2041	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3		AGC-kinase C-terminal.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCTGGGCTCCGAGGACGACGA	0.617													False	0	False	19:18249857	0	A	18249857	G	A	18249857	3	1	88	1	0	0	0	0	1	0	0	0	9393	1059	37	1	2115	1	MAST3	19	18249857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	18249857	40879126	18155	25867											
MAST3	23031	broad.mit.edu	37	chr19	18252741	18252741	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcccactcctaccttcgCtgaaaggagcttcagtgaag	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18252741C>A	ENST00000262811.6	+	20	2168	c.2168C>A	c.(2167-2169)gCt>gAt	p.A723D		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3								ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCTACCTTCGCTGAAAGGAGC	0.617													False	0	False	19:18252741	0	A	18252741	C	A	18252741	3	1	88	1	0	0	0	0	1	0	0	0	9393	797	28	3	2246	3	MAST3	19	18252741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2884	18252741	40876242	18156	25868											
PIK3R2	5296	broad.mit.edu	37	chr19	18273018	18273018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgtcccccagcgctgcCgcctaaaccccccaaggcaa	7	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18273018C>T	ENST00000593731.1	+	8	1468	c.908C>T	c.(907-909)cCg>cTg	p.P303L	PIK3R2_ENST00000222254.8_Missense_Mutation_p.P303L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	303					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CCAGCGCTGCCGCCTAAACCC	0.617													False	0	False	19:18273018	0	T	18273018	C	T	18273018	3	4	88	1	0	0	0	0	1	0	0	0	11988	652	23	1	934	1	PIK3R2	19	18273018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20277	18273018	40855965	18157	25869											
PIK3R2	5296	broad.mit.edu	37	chr19	18279918	18279918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggacggcgacaccaagcaCtgcgtcatctaccgcacggc	12	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18279918C>A	ENST00000593731.1	+	16	2561	c.2001C>A	c.(1999-2001)caC>caA	p.H667Q	PIK3R2_ENST00000222254.8_Missense_Mutation_p.H667Q			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	667	SH2 2.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						ACACCAAGCACTGCGTCATCT	0.682													False	0	False	19:18279918	0	A	18279918	C	A	18279918	3	1	88	1	0	0	0	0	1	0	0	0	11988	564	20	3	2059	3	PIK3R2	19	18279918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6900	18279918	40849065	18158	25870											
IFI30	10437	broad.mit.edu	37	chr19	18285994	18285994	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catggctgttggtcatggagAtcctcaatgtcacgctggtg	13	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18285994A>T	ENST00000407280.3	+	2	452	c.277A>T	c.(277-279)Atc>Ttc	p.I93F	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30						antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						GGTCATGGAGATCCTCAATGT	0.607													False	0	False	19:18285994	0	T	18285994	A	T	18285994	3	4	88	1	0	0	0	0	1	0	0	0	7565	333	12	5	283	5	IFI30	19	18285994	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6076	18285994	40842989	18159	25871											
MPV17L2	84769	broad.mit.edu	37	chr19	18305800	18305800	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtggcctgctgcgcagttCgtgaacttcctcttcgtgcc	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305800C>T	ENST00000599612.2	+	4	568	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	156						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						CTGCGCAGTTCGTGAACTTCC	0.667													False	0	False	19:18305800	0	T	18305800	C	T	18305800	2	4	88	1	0	0	0	0	0	0	0	1	9814	883	31	1		1	MPV17L2	19	18305800	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19806	18305800	40823183	18160	25872											
MPV17L2	84769	broad.mit.edu	37	chr19	18305857	18305857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctacatcaacggcctgacGctgggctgggacacgtacct	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305857G>A	ENST00000599612.2	+	4	625	c.525G>A	c.(523-525)acG>acA	p.T175T		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	175						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						ACGGCCTGACGCTGGGCTGGG	0.622													False	0	True	19:18305857	0	A	18305857	G	A	18305857	2	1	88	1	0	0	0	0	0	0	0	1	9814	1074	38	1		1	MPV17L2	19	18305857	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57	18305857	40823126	18161	25873											
RAB3A	5864	broad.mit.edu	37	chr19	18311216	18311216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagcgccccggtagtatgCggtggtgatggtccggtacc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18311216C>T	ENST00000222256.4	-	3	446	c.268G>A	c.(268-270)Gca>Aca	p.A90T	RAB3A_ENST00000464076.3_5'UTR	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	90					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CGGTAGTATGCGGTGGTGATG	0.552													False	0	False	19:18311216	0	T	18311216	C	T	18311216	3	4	88	1	0	0	0	0	1	0	0	0	13010	768	27	1	406	1	RAB3A	19	18311216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5359	18311216	40817767	18162	25874											
PDE4C	5143	broad.mit.edu	37	chr19	18332977	18332977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggagttccgagacatggcCttgggcgagagttcatagtc	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18332977C>A	ENST00000355502.3	-	6	1270	c.399G>T	c.(397-399)aaG>aaT	p.K133N	PDE4C_ENST00000447275.3_Missense_Mutation_p.K27N|PDE4C_ENST00000594465.3_Missense_Mutation_p.K133N|PDE4C_ENST00000262805.12_Missense_Mutation_p.K101N|PDE4C_ENST00000594617.3_Missense_Mutation_p.K133N			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	133					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GAGACATGGCCTTGGGCGAGA	0.617													False	0	False	19:18332977	0	A	18332977	C	A	18332977	3	1	88	1	0	0	0	0	1	0	0	0	11709	680	24	3	1795	3	PDE4C	19	18332977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21761	18332977	40796006	18163	25875											
KIAA1683	80726	broad.mit.edu	37	chr19	18368859	18368859	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacgcagcacccctggCtggctcccatgcgcggttcc	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18368859C>A	ENST00000392413.4	-	4	3450	c.3235G>T	c.(3235-3237)Gcc>Tcc	p.A1079S	KIAA1683_ENST00000600359.3_Missense_Mutation_p.A846S|KIAA1683_ENST00000600328.3_Missense_Mutation_p.A892S	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCACCCCTGGCTGGCTCCCAT	0.652													False	0	True	19:18368859	0	A	18368859	C	A	18368859	3	1	88	1	0	0	0	0	1	0	0	0	8301	797	28	3	872	3	KIAA1683	19	18368859	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35882	18368859	40760124	18164	25876											
JUND	3727	broad.mit.edu	37	chr19	18391375	18391375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggacgccagctccgtgTtctgactcttgagggtcttc	12	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18391375T>C	ENST00000252818.3	-	1	1057	c.920A>G	c.(919-921)aAc>aGc	p.N307S		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	307	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						CAGCTCCGTGTTCTGACTCTT	0.652													False	0	False	19:18391375	0	C	18391375	T	C	18391375	3	2	88	1	0	0	0	0	1	0	0	0	8021	1725	60	4	127	4	JUND	19	18391375	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22516	18391375	40737608	18165	25877											
LSM4	25804	broad.mit.edu	37	chr19	18420644	18420644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgccgcggatgtagcactCgggcatccgccagaacttgt	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18420644C>T	ENST00000593829.1	-	4	425	c.172G>A	c.(172-174)Gag>Aag	p.E58K	LSM4_ENST00000252816.6_Missense_Mutation_p.E44K	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	58					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding	p.E58K(1)		endometrium(1)|large_intestine(2)|lung(3)	6						ATGTAGCACTCGGGCATCCGC	0.667													False	0	True	19:18420644	0	T	18420644	C	T	18420644	3	4	88	1	0	0	0	0	1	0	0	0	9120	893	31	1	255	1	LSM4	19	18420644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29269	18420644	40708339	18166	25878											
LRRC25	126364	broad.mit.edu	37	chr19	18507051	18507051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacaaacatgttctcataGtcgggagtggaggggcagga	14	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18507051G>A	ENST00000339007.3	-	1	1376	c.723C>T	c.(721-723)gaC>gaT	p.D241D	LRRC25_ENST00000595840.1_Silent_p.D241D	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	241						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TGTTCTCATAGTCGGGAGTGG	0.602													False	0	False	19:18507051	0	A	18507051	G	A	18507051	2	1	88	1	0	0	0	0	0	0	0	1	9042	1020	36	2		2	LRRC25	19	18507051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86407	18507051	40621932	18167	25879											
LRRC25	126364	broad.mit.edu	37	chr19	18507290	18507290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccgatagttgcagaggCcaggccaggggcgcagctga	16	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18507290C>T	ENST00000339007.3	-	1	1137	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	LRRC25_ENST00000595840.1_Missense_Mutation_p.A162T	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	162						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GTTGCAGAGGCCAGGCCAGGG	0.637													False	0	True	19:18507290	0	T	18507290	C	T	18507290	3	4	88	1	0	0	0	0	1	0	0	0	9042	739	26	2	441	2	LRRC25	19	18507290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	18507290	40621693	18168	25880											
SSBP4	170463	broad.mit.edu	37	chr19	18538218	18538218	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgcccagaagtcagcccaGaccttcctgtctgaggtaag	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18538218G>A	ENST00000270061.7	+	2	411	c.117G>A	c.(115-117)caG>caA	p.Q39Q	SSBP4_ENST00000598159.2_3'UTR|SSBP4_ENST00000348495.6_Silent_p.Q39Q	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4		LisH.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						AGTCAGCCCAGACCTTCCTGT	0.642													False	0	False	19:18538218	0	A	18538218	G	A	18538218	2	1	88	1	0	0	0	0	0	0	0	1	15264	933	33	2		2	SSBP4	19	18538218	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30928	18538218	40590765	18169	25881											
SSBP4	170463	broad.mit.edu	37	chr19	18541673	18541673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcagccgcccccagccCcgttatggggagtatggccc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18541673C>A	ENST00000270061.7	+	5	596	c.302C>A	c.(301-303)cCc>cAc	p.P101H	SSBP4_ENST00000598159.2_3'UTR|SSBP4_ENST00000348495.6_Missense_Mutation_p.P101H	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4							nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						GCCCCCAGCCCCGTTATGGGG	0.662													False	0	True	19:18541673	0	A	18541673	C	A	18541673	3	1	88	1	0	0	0	0	1	0	0	0	15264	623	22	3	320	3	SSBP4	19	18541673	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3455	18541673	40587310	18170	25882											
ISYNA1	51477	broad.mit.edu	37	chr19	18547207	18547207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctcacagaagcgctccGtgttcgccgtccacagcact	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18547207G>A	ENST00000338128.8	-	6	909	c.692C>T	c.(691-693)aCg>aTg	p.T231M	ISYNA1_ENST00000317018.6_Missense_Mutation_p.T29M|ISYNA1_ENST00000457269.4_Missense_Mutation_p.T177M|ISYNA1_ENST00000545187.1_Missense_Mutation_p.T81M|ISYNA1_ENST00000578963.1_Missense_Mutation_p.T103M	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1						inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GAAGCGCTCCGTGTTCGCCGT	0.627													False	0	False	19:18547207	0	A	18547207	G	A	18547207	3	1	88	1	0	0	0	0	1	0	0	0	7917	1145	40	1	1008	1	ISYNA1	19	18547207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5534	18547207	40581776	18171	25883											
ELL	8178	broad.mit.edu	37	chr19	18556055	18556055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttgatttttcgatattcCtgcaaaatctgccctcgagt	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18556055C>A	ENST00000262809.4	-	11	1799	c.1728G>T	c.(1726-1728)caG>caT	p.Q576H	ELL_ENST00000596124.3_Missense_Mutation_p.Q443H	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	576					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TTCGATATTCCTGCAAAATCT	0.512			T	MLL	AL								False	0	False	19:18556055	0	A	18556055	C	A	18556055	3	1	88	1	0	0	0	0	1	0	0	0	5094	680	24	3	145	3	ELL	19	18556055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8848	18556055	40572928	18172	25884											
FKBP8	23770	broad.mit.edu	37	chr19	18648447	18648447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccttgatgttgtctggCtggtgctccagcacaaggct	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18648447C>T	ENST00000608443.1	-	6	1108	c.909G>A	c.(907-909)caG>caA	p.Q303Q	FKBP8_ENST00000610101.1_Silent_p.Q143Q|FKBP8_ENST00000597960.3_Silent_p.Q303Q|FKBP8_ENST00000453489.2_Silent_p.Q331Q|FKBP8_ENST00000596558.2_Silent_p.Q302Q|FKBP8_ENST00000222308.4_Silent_p.Q302Q			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa						apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGTTGTCTGGCTGGTGCTCCA	0.637													False	0	True	19:18648447	0	T	18648447	C	T	18648447	2	4	88	1	0	0	0	0	0	0	0	1	5954	796	28	2		2	FKBP8	19	18648447	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92392	18648447	40480536	18173	25885											
FKBP8	23770	broad.mit.edu	37	chr19	18652785	18652785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcacacgatgccatgctgCtggggggacaggaattggcc	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18652785C>A	ENST00000453489.2	-	2	105	c.83G>T	c.(82-84)aGc>aTc	p.S28I	FKBP8_ENST00000610101.1_5'UTR|FKBP8_ENST00000597960.3_5'UTR|FKBP8_ENST00000596558.2_5'UTR|FKBP8_ENST00000222308.4_5'UTR|FKBP8_ENST00000608443.1_5'UTR			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	0	Glu-rich.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGCCATGCTGCTGGGGGGACA	0.617													False	0	False	19:18652785	0	A	18652785	C	A	18652785	3	1	88	1	0	0	0	0	1	0	0	0	5954	812	28	3		3	FKBP8	19	18652785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4338	18652785	40476198	18174	25886											
CRLF1	9244	broad.mit.edu	37	chr19	18710412	18710412	+	Silent	SNP	G	G	A													gagccagccaggatgctgccGtcacgggcgtggcacacgag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18710412G>A	ENST00000392386.3	-	2	553	c.360C>T	c.(358-360)gaC>gaT	p.D120D		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	120	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGATGCTGCCGTCACGGGCGT	0.647													False	0	False	19:18710412	0	A	18710412	G	A	18710412	2	1	88	1	0	0	0	0	0	0	0	1	3909	1136	40	1		1	CRLF1	19	18710412	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57627	18710412	40418571	18175	25887	272	2									
CRLF1	9244	broad.mit.edu	37	chr19	18710420	18710420	+	Missense_Mutation	SNP	C	C	T													caggatgctgccgtcacgggCgtggcacacgaggttgtccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18710420C>T	ENST00000392386.3	-	2	545	c.352G>A	c.(352-354)Gcc>Acc	p.A118T		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	118	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCGTCACGGGCGTGGCACACG	0.657													False	0	True	19:18710420	0	T	18710420	C	T	18710420	3	4	88	1	0	0	0	0	1	0	0	0	3909	768	27	1	948	1	CRLF1	19	18710420	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	18710420	40418563	18176	25888	272	2									
TMEM59L	25789	broad.mit.edu	37	chr19	18724703	18724703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggggctggagggcgcctccGagtctccctatgacagagcc	15	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18724703G>A	ENST00000600490.1	+	3	378	c.193G>A	c.(193-195)Gag>Aag	p.E65K	TMEM59L_ENST00000262817.3_Missense_Mutation_p.E65K			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	65						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GGGCGCCTCCGAGTCTCCCTA	0.672													False	0	False	19:18724703	0	A	18724703	G	A	18724703	3	1	88	1	0	0	0	0	1	0	0	0	16268	1059	37	1	199	1	TMEM59L	19	18724703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14283	18724703	40404280	18177	25889											
TMEM59L	25789	broad.mit.edu	37	chr19	18724721	18724721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagtctccctatgacagaGccgttctgatcagcgcttgc	10	14	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18724721G>A	ENST00000600490.1	+	3	396	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	TMEM59L_ENST00000262817.3_Missense_Mutation_p.A71T			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	71						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CTATGACAGAGCCGTTCTGAT	0.662													False	0	False	19:18724721	0	A	18724721	G	A	18724721	3	1	88	1	0	0	0	0	1	0	0	0	16268	971	34	2	217	2	TMEM59L	19	18724721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	18724721	40404262	18178	25890											
TMEM59L	25789	broad.mit.edu	37	chr19	18731268	18731268	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgatggagcccgattggccCctgtacccgccgccgtccca	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18731268C>A	ENST00000600490.1	+	9	1136	c.951C>A	c.(949-951)ccC>ccA	p.P317P	TMEM59L_ENST00000262817.3_Silent_p.P317P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	317						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCGATTGGCCCCTGTACCCGC	0.647													False	0	True	19:18731268	0	A	18731268	C	A	18731268	2	1	88	1	0	0	0	0	0	0	0	1	16268	610	22	3		3	TMEM59L	19	18731268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6547	18731268	40397715	18179	25891											
KLHL26	55295	broad.mit.edu	37	chr19	18778902	18778902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttccgcgcggccgtccGctggctgcagcatgacccgg	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18778902G>A	ENST00000300976.4	+	3	785	c.695G>A	c.(694-696)cGc>cAc	p.R232H	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	232	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGCCGTCCGCTGGCTGCAG	0.687													False	0	True	19:18778902	0	A	18778902	G	A	18778902	3	1	88	1	0	0	0	0	1	0	0	0	8431	1087	38	1	705	1	KLHL26	19	18778902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47634	18778902	40350081	18180	25892											
KLHL26	55295	broad.mit.edu	37	chr19	18779809	18779809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtggagtactatgtgccGgagacggaccagtggaccag	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18779809G>A	ENST00000300976.4	+	3	1692	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	534										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTATGTGCCGGAGACGGACC	0.677													False	0	False	19:18779809	0	A	18779809	G	A	18779809	2	1	88	1	0	0	0	0	0	0	0	1	8431	1103	39	1		1	KLHL26	19	18779809	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	907	18779809	40349174	18181	25893											
CRTC1	23373	broad.mit.edu	37	chr19	18885767	18885767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatgagcagcagatggcgGccaggcaggccaatgctctg	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18885767G>A	ENST00000338797.6	+	13	1556	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T	CRTC1_ENST00000594658.1_Missense_Mutation_p.A454T|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000321949.8_Missense_Mutation_p.A495T	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	495					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCAGATGGCGGCCAGGCAGGC	0.677													False	0	False	19:18885767	0	A	18885767	G	A	18885767	3	1	88	1	0	0	0	0	1	0	0	0	3922	1203	42	2	1581	2	CRTC1	19	18885767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105958	18885767	40243216	18182	25894											
CRTC1	23373	broad.mit.edu	37	chr19	18888081	18888081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagccagtttcccctggaCgaactcaagatcgaccccct	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18888081C>T	ENST00000338797.6	+	15	1867	c.1842C>T	c.(1840-1842)gaC>gaT	p.D614D	CRTC1_ENST00000594658.1_Silent_p.D557D|CRTC1_ENST00000601916.1_Silent_p.D356D|CRTC1_ENST00000321949.8_Silent_p.D598D	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	598					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TTCCCCTGGACGAACTCAAGA	0.632													False	0	False	19:18888081	0	T	18888081	C	T	18888081	2	4	88	1	0	0	0	0	0	0	0	1	3922	535	19	1		1	CRTC1	19	18888081	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2314	18888081	40240902	18183	25895											
COMP	1311	broad.mit.edu	37	chr19	18893930	18893930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagaagacccccaggcGgccaccccgcatggttgtgt	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18893930G>A	ENST00000542601.2	-	17	2451	c.2062C>T	c.(2062-2064)Cgc>Tgc	p.R688C	COMP_ENST00000222271.2_Missense_Mutation_p.R721C|COMP_ENST00000425807.1_Missense_Mutation_p.R668C			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	721	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACCCCCAGGCGGCCACCCCGC	0.652													False	0	False	19:18893930	0	A	18893930	G	A	18893930	3	1	88	1	0	0	0	0	1	0	0	0	3747	1116	39	1	120	1	COMP	19	18893930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5849	18893930	40235053	18184	25896											
COMP	1311	broad.mit.edu	37	chr19	18901372	18901372	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgccccgccgcgctcaccGcacgcgtcacactccatcac	7	23	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901372G>A	ENST00000542601.2	-	2	506	c.117C>T	c.(115-117)tgC>tgT	p.C39C	COMP_ENST00000222271.2_Splice_Site_p.C72C|COMP_ENST00000425807.1_Splice_Site_p.C72C			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	72	COMP N-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGCGCTCACCGCACGCGTCAC	0.612													False	0	False	19:18901372	0	A	18901372	G	A	18901372	5	1	88	1	0	0	0	0	0	0	1	0	3747	1101	38	1	2125	1	COMP	19	18901372	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7442	18901372	40227611	18185	25897											
COMP	1311	broad.mit.edu	37	chr19	18901411	18901411	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accgtgtttttcaggaacgtGatctccctgacctgcagggg	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901411G>A	ENST00000542601.2	-	2	467	c.78C>T	c.(76-78)atC>atT	p.I26I	COMP_ENST00000222271.2_Silent_p.I59I|COMP_ENST00000425807.1_Silent_p.I59I			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	59	COMP N-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	p.I59I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCAGGAACGTGATCTCCCTGA	0.622													False	0	False	19:18901411	0	A	18901411	G	A	18901411	2	1	88	1	0	0	0	0	0	0	0	1	3747	1280	45	2		2	COMP	19	18901411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	18901411	40227572	18186	25898											
ARMC6	93436	broad.mit.edu	37	chr19	19162840	19162840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgactggtgccatcaCccatcatggccaccacactg	8	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19162840C>T	ENST00000535612.1	+	5	1121	c.689C>T	c.(688-690)aCc>aTc	p.T230I	ARMC6_ENST00000269932.6_Missense_Mutation_p.T205I|ARMC6_ENST00000546344.1_Missense_Mutation_p.T137I|ARMC6_ENST00000392336.3_Missense_Mutation_p.T230I|ARMC6_ENST00000392335.2_Missense_Mutation_p.T205I	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	230							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGTGCCATCACCCATCATGGC	0.597													False	0	True	19:19162840	0	T	19162840	C	T	19162840	3	4	88	1	0	0	0	0	1	0	0	0	959	507	18	2	624	2	ARMC6	19	19162840	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261429	19162840	39966143	18187	25899											
ARMC6	93436	broad.mit.edu	37	chr19	19166187	19166187	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgtggctgctatgacccaGcatctgaccagcccccaggt	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19166187G>T	ENST00000535612.1	+	7	1569	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	ARMC6_ENST00000269932.6_Missense_Mutation_p.Q354H|ARMC6_ENST00000546344.1_Missense_Mutation_p.Q286H|ARMC6_ENST00000392336.3_Missense_Mutation_p.Q379H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q354H	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	379							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CTATGACCCAGCATCTGACCA	0.587													False	0	False	19:19166187	0	T	19166187	G	T	19166187	3	4	88	1	0	0	0	0	1	0	0	0	959	962	34	3	1080	3	ARMC6	19	19166187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3347	19166187	39962796	18188	25900											
ARMC6	93436	broad.mit.edu	37	chr19	19166660	19166660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtaagcccgacaacagcCgcatcatcgtggagggtggc	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19166660C>T	ENST00000535612.1	+	8	1648	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	ARMC6_ENST00000269932.6_Missense_Mutation_p.R381C|ARMC6_ENST00000546344.1_Missense_Mutation_p.R313C|ARMC6_ENST00000392336.3_Missense_Mutation_p.R406C|ARMC6_ENST00000392335.2_Missense_Mutation_p.R381C	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	406							protein binding	p.R381S(1)|p.R406S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CGACAACAGCCGCATCATCGT	0.672													False	0	False	19:19166660	0	T	19166660	C	T	19166660	3	4	88	1	0	0	0	0	1	0	0	0	959	652	23	1	1163	1	ARMC6	19	19166660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	473	19166660	39962323	18189	25901											
ARMC6	93436	broad.mit.edu	37	chr19	19168365	19168365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacgtggccaaggccgcCctgcgggacctgggttgtca	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19168365C>T	ENST00000535612.1	+	9	1866	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	ARMC6_ENST00000269932.6_Silent_p.A453A|ARMC6_ENST00000546344.1_Silent_p.A385A|ARMC6_ENST00000392336.3_Silent_p.A478A|ARMC6_ENST00000392335.2_Silent_p.A453A	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	478							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCAAGGCCGCCCTGCGGGACC	0.672													False	0	True	19:19168365	0	T	19168365	C	T	19168365	2	4	88	1	0	0	0	0	0	0	0	1	959	610	22	2		2	ARMC6	19	19168365	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1705	19168365	39960618	18190	25902											
SLC25A42	284439	broad.mit.edu	37	chr19	19221530	19221530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacccgcgcgcctccatcGcccgcacgctgcgcaccatc	9	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19221530G>A	ENST00000318596.7	+	8	953	c.802G>A	c.(802-804)Gcc>Acc	p.A268T		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	268					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CGCCTCCATCGCCCGCACGCT	0.711													False	0	True	19:19221530	0	A	19221530	G	A	19221530	3	1	88	1	0	0	0	0	1	0	0	0	14587	1087	38	1	828	1	SLC25A42	19	19221530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53165	19221530	39907453	18191	25903											
RFXANK	8625	broad.mit.edu	37	chr19	19308954	19308954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaaaagagcgagagagCgccctgtcgctggccagcac	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19308954C>T	ENST00000303088.4	+	7	951	c.477C>T	c.(475-477)agC>agT	p.S159S	RFXANK_ENST00000392324.4_Silent_p.S136S|RFXANK_ENST00000407360.3_Silent_p.S159S|RFXANK_ENST00000353145.1_Silent_p.S136S|RFXANK_ENST00000456252.3_Silent_p.S137S	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	159						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			AGCGAGAGAGCGCCCTGTCGC	0.597													False	0	True	19:19308954	0	T	19308954	C	T	19308954	2	4	88	1	0	0	0	0	0	0	0	1	13348	767	27	1		1	RFXANK	19	19308954	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87424	19308954	39820029	18192	25904											
NCAN	1463	broad.mit.edu	37	chr19	19339148	19339148	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccagaggatcaggtggagAcccagggaacatcaggagct	15	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19339148A>G	ENST00000252575.6	+	8	2818	c.2719A>G	c.(2719-2721)Acc>Gcc	p.T907A	NCAN_ENST00000538881.1_Missense_Mutation_p.T358A	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCAGGTGGAGACCCAGGGAAC	0.622													False	0	True	19:19339148	0	G	19339148	A	G	19339148	3	3	88	1	0	0	0	0	1	0	0	0	10272	275	10	4	2745	4	NCAN	19	19339148	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30194	19339148	39789835	18193	25905											
NCAN	1463	broad.mit.edu	37	chr19	19344688	19344688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgtagctgtgatcaggGcttcgccggggagaactgtg	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19344688G>A	ENST00000252575.6	+	9	3209	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCAN_ENST00000538881.1_Missense_Mutation_p.G488D	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		EGF-like 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TGTGATCAGGGCTTCGCCGGG	0.517													False	0	True	19:19344688	0	A	19344688	G	A	19344688	3	1	88	1	0	0	0	0	1	0	0	0	10272	1203	42	2	3140	2	NCAN	19	19344688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5540	19344688	39784295	18194	25906											
NCAN	1463	broad.mit.edu	37	chr19	19351435	19351435	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcatgaaaacacgtggAtcggcctgaacgacaggatc	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19351435A>G	ENST00000252575.6	+	12	3532	c.3433A>G	c.(3433-3435)Atc>Gtc	p.I1145V	NCAN_ENST00000538881.1_Missense_Mutation_p.I596V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AAACACGTGGATCGGCCTGAA	0.632													False	0	False	19:19351435	0	G	19351435	A	G	19351435	3	3	88	1	0	0	0	0	1	0	0	0	10272	333	12	4	3475	4	NCAN	19	19351435	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6747	19351435	39777548	18195	25907											
GATAD2A	54815	broad.mit.edu	37	chr19	19609351	19609351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctctgccgagtctccaGcaagccgacaggcggccgcc	11	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19609351G>A	ENST00000404158.1	+	10	1442	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A342T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A342T|GATAD2A_ENST00000360315.3_Missense_Mutation_p.A342T|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A169T			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	342					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CGAGTCTCCAGCAAGCCGACA	0.647													False	0	False	19:19609351	0	A	19609351	G	A	19609351	3	1	88	1	0	0	0	0	1	0	0	0	6303	971	34	2	1050	2	GATAD2A	19	19609351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257916	19609351	39519632	18196	25908											
GATAD2A	54815	broad.mit.edu	37	chr19	19613287	19613287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagagaaccgtgagcgccGgcaagggcagcgccacctcc	14	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19613287G>A	ENST00000404158.1	+	13	2144	c.1726G>A	c.(1726-1728)Ggc>Agc	p.G576S	GATAD2A_ENST00000537887.1_Missense_Mutation_p.G204S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G575S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.G550S|GATAD2A_ENST00000360315.3_Missense_Mutation_p.G575S|GATAD2A_ENST00000429563.2_Missense_Mutation_p.G378S			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	575					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CGTGAGCGCCGGCAAGGGCAG	0.642													False	0	False	19:19613287	0	A	19613287	G	A	19613287	3	1	88	1	0	0	0	0	1	0	0	0	6303	1116	39	1	1761	1	GATAD2A	19	19613287	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3936	19613287	39515696	18197	25909											
TSSK6	83983	broad.mit.edu	37	chr19	19625951	19625951	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcacggcttgcagcaggtCggtggcggccgcttccatca	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19625951C>A	ENST00000360913.3	-	1	887	c.286G>T	c.(286-288)Gac>Tac	p.D96Y	TSSK6_ENST00000585580.3_Missense_Mutation_p.D96Y			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	96	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TGCAGCAGGTCGGTGGCGGCC	0.657													False	0	False	19:19625951	0	A	19625951	C	A	19625951	3	1	88	1	0	0	0	0	1	0	0	0	16755	884	31	3	539	3	TSSK6	19	19625951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12664	19625951	39503032	18198	25910											
TSSK6	83983	broad.mit.edu	37	chr19	19626064	19626064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggatggacagctctcgcGgcaggaacttgttgacgaag	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19626064G>A	ENST00000360913.3	-	1	774	c.173C>T	c.(172-174)cCg>cTg	p.P58L	TSSK6_ENST00000585580.3_Missense_Mutation_p.P58L			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	58	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CAGCTCTCGCGGCAGGAACTT	0.602													False	0	False	19:19626064	0	A	19626064	G	A	19626064	3	1	88	1	0	0	0	0	1	0	0	0	16755	1116	39	1	652	1	TSSK6	19	19626064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113	19626064	39502919	18199	25911											
CILP2	148113	broad.mit.edu	37	chr19	19650526	19650526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaatggcgactgcactgGgcctggaaagacggtccgtg	15	11	0	1	rs142743091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19650526G>A	ENST00000586018.1	+	2	205	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	CILP2_ENST00000291495.5_Missense_Mutation_p.G35S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	35						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GACTGCACTGGGCCTGGAAAG	0.667													False	0	True	19:19650526	0	A	19650526	G	A	19650526	3	1	88	1	0	0	0	0	1	0	0	0	3453	1232	43	2	109	2	CILP2	19	19650526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24462	19650526	39478457	18200	25912											
CILP2	148113	broad.mit.edu	37	chr19	19655592	19655592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgcgcgcctacgccaaCgacaagttcacccccagcga	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19655592C>T	ENST00000586018.1	+	8	2358	c.2256C>T	c.(2254-2256)aaC>aaT	p.N752N	CILP2_ENST00000291495.5_Silent_p.N746N			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	746						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCTACGCCAACGACAAGTTCA	0.687													False	0	False	19:19655592	0	T	19655592	C	T	19655592	2	4	88	1	0	0	0	0	0	0	0	1	3453	535	19	1		1	CILP2	19	19655592	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5066	19655592	39473391	18201	25913											
PBX4	80714	broad.mit.edu	37	chr19	19675846	19675846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtagcctcttcttgaaacTtccccatgttctttttatac	5	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19675846T>C	ENST00000251203.9	-	6	1107	c.821A>G	c.(820-822)aAg>aGg	p.K274R		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4								sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TTCTTGAAACTTCCCCATGTT	0.522													False	0	False	19:19675846	0	C	19675846	T	C	19675846	3	2	88	1	0	0	0	0	1	0	0	0	11563	1609	56	4	315	4	PBX4	19	19675846	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20254	19675846	39453137	18202	25914											
LPAR2	9170	broad.mit.edu	37	chr19	19737613	19737613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcaggcagcagccccaGgcccagggcagccacccaca	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19737613G>A	ENST00000542587.1	-	5	1383	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	LPAR2_ENST00000407877.3_Silent_p.L161L|LPAR2_ENST00000586703.1_Silent_p.L161L			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	161					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						AGCAGCCCCAGGCCCAGGGCA	0.706													False	0	True	19:19737613	0	A	19737613	G	A	19737613	2	1	88	1	0	0	0	0	0	0	0	1	8967	991	35	2		2	LPAR2	19	19737613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61767	19737613	39391370	18203	25915											
GMIP	51291	broad.mit.edu	37	chr19	19752634	19752634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctacctgtgaggggtacagGaccctctggggaggggccgc	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19752634G>A	ENST00000203556.4	-	4	360	c.223C>T	c.(223-225)Cct>Tct	p.P75S	GMIP_ENST00000445806.2_Missense_Mutation_p.P75S|GMIP_ENST00000587238.1_Missense_Mutation_p.P75S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	75					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGGGGTACAGGACCCTCTGGG	0.592													False	0	False	19:19752634	0	A	19752634	G	A	19752634	3	1	88	1	0	0	0	0	1	0	0	0	6536	1174	41	2	2761	2	GMIP	19	19752634	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15021	19752634	39376349	18204	25916											
ATP13A1	57130	broad.mit.edu	37	chr19	19767835	19767835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttgttgcccatcttccGgatctccgacatgttccgca	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19767835G>A	ENST00000357324.6	-	5	900	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	ATP13A1_ENST00000291503.5_Missense_Mutation_p.R174W	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	292					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCCATCTTCCGGATCTCCGAC	0.602													False	0	False	19:19767835	0	A	19767835	G	A	19767835	3	1	88	1	0	0	0	0	1	0	0	0	1127	1115	39	1	2828	1	ATP13A1	19	19767835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15201	19767835	39361148	18205	25917											
ZNF101	94039	broad.mit.edu	37	chr19	19789533	19789533	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctctgggtctacattttAggaatccaatggaaagacca	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19789533A>C	ENST00000592502.1	+	3	240		c.e3-1		ZNF101_ENST00000415784.2_Splice_Site|ZNF101_ENST00000444249.2_Splice_Site			Q8IZC7	ZN101_HUMAN	zinc finger protein 101						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TCTACATTTTAGGAATCCAAT	0.358													False	0	True	19:19789533	0	C	19789533	A	C	19789533	5	2	88	1	0	0	0	0	0	0	1	0	17797	434	15	4	139	4	ZNF101	19	19789533	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21698	19789533	39339450	18206	25918											
ZNF101	94039	broad.mit.edu	37	chr19	19790189	19790189	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgctggacacaaacgatctGagtgtggtggggaatggaga	16	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19790189G>A	ENST00000592502.1	+	4	501	c.391G>A	c.(391-393)Gag>Aag	p.E131K	ZNF101_ENST00000415784.2_Missense_Mutation_p.E11K|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CAAACGATCTGAGTGTGGTGG	0.527													False	0	False	19:19790189	0	A	19790189	G	A	19790189	3	1	88	1	0	0	0	0	1	0	0	0	17797	1291	45	2	405	2	ZNF101	19	19790189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	656	19790189	39338794	18207	25919											
ZNF14	7561	broad.mit.edu	37	chr19	19823186	19823186	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagggtttctctccacTatgagtccttttatgccttc	6	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19823186T>C	ENST00000344099.3	-	4	1042	c.904A>G	c.(904-906)Agt>Ggt	p.S302G		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTCTCTCCACTATGAGTCCTT	0.388													False	0	False	19:19823186	0	C	19823186	T	C	19823186	3	2	88	1	0	0	0	0	1	0	0	0	17811	1522	53	4	1028	4	ZNF14	19	19823186	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32997	19823186	39305797	18208	25920											
ZNF90	7643	broad.mit.edu	37	chr19	20215098	20215098	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattctctctggaggagtgGcattgcctggacactgcaca	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20215098G>A	ENST00000418063.2	+	2	166	c.54G>A	c.(52-54)tgG>tgA	p.W18*	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	18	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TGGAGGAGTGGCATTGCCTGG	0.428													False	0	False	19:20215098	0	A	20215098	G	A	20215098	4	1	88	1	0	0	0	0	0	1	0	0	18281	1212	42	2	60	2	ZNF90	19	20215098	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	391912	20215098	38913885	18209	25921											
ZNF626	199777	broad.mit.edu	37	chr19	20808152	20808152	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttaaaagctttgccacaTtctatatatttgaaaggttt	6	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20808152T>C	ENST00000601440.1	-	4	677	c.531A>G	c.(529-531)gaA>gaG	p.E177E	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CTTTGCCACATTCTATATATT	0.343													False	0	False	19:20808152	0	C	20808152	T	C	20808152	2	2	88	1	0	0	0	0	0	0	0	1	18133	1490	52	4		4	ZNF626	19	20808152	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	593054	20808152	38320831	18210	25922											
ZNF85	7639	broad.mit.edu	37	chr19	21131671	21131671	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatttaccattaagaaaaggCtgtgaaagtatggatgagtg	11	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21131671C>A	ENST00000601023.1	+	2	820	c.174C>A	c.(172-174)ggC>ggA	p.G58G	ZNF85_ENST00000328178.8_Silent_p.G117G|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Silent_p.G84G			Q03923	ZNF85_HUMAN	zinc finger protein 85	117	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TAAGAAAAGGCTGTGAAAGTA	0.353													False	0	False	19:21131671	0	A	21131671	C	A	21131671	2	1	88	1	0	0	0	0	0	0	0	1	18275	784	28	3		3	ZNF85	19	21131671	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	323519	21131671	37997312	18211	25923											
ZNF85	7639	broad.mit.edu	37	chr19	21131956	21131956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtggaaaagcctttaaCtggtcctcaacccttactaa	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21131956C>T	ENST00000601023.1	+	2	1105	c.459C>T	c.(457-459)aaC>aaT	p.N153N	ZNF85_ENST00000328178.8_Silent_p.N212N|ZNF85_ENST00000345030.6_Silent_p.N179N			Q03923	ZNF85_HUMAN	zinc finger protein 85	212						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAGCCTTTAACTGGTCCTCAA	0.368													False	0	False	19:21131956	0	T	21131956	C	T	21131956	2	4	88	1	0	0	0	0	0	0	0	1	18275	564	20	2		2	ZNF85	19	21131956	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	285	21131956	37997027	18212	25924											
ZNF85	7639	broad.mit.edu	37	chr19	21132044	21132044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaaagcctttaaccagTcctcaaaccttattaaacat	5	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132044T>C	ENST00000601023.1	+	2	1193	c.547T>C	c.(547-549)Tcc>Ccc	p.S183P	ZNF85_ENST00000328178.8_Missense_Mutation_p.S242P|ZNF85_ENST00000345030.6_Missense_Mutation_p.S209P			Q03923	ZNF85_HUMAN	zinc finger protein 85	242						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTTTAACCAGTCCTCAAACCT	0.358													False	0	False	19:21132044	0	C	21132044	T	C	21132044	3	2	88	1	0	0	0	0	1	0	0	0	18275	1667	58	4	738	4	ZNF85	19	21132044	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88	21132044	37996939	18213	25925											
ZNF85	7639	broad.mit.edu	37	chr19	21132125	21132125	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtggcaaaacttttaacCgattctcaactcttactacc	4	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132125C>T	ENST00000601023.1	+	2	1274	c.628C>T	c.(628-630)Cga>Tga	p.R210*	ZNF85_ENST00000328178.8_Nonsense_Mutation_p.R269*|ZNF85_ENST00000345030.6_Nonsense_Mutation_p.R236*			Q03923	ZNF85_HUMAN	zinc finger protein 85	269						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AACTTTTAACCGATTCTCAAC	0.353													False	0	False	19:21132125	0	T	21132125	C	T	21132125	4	4	88	1	0	0	0	0	0	1	0	0	18275	644	23	1	819	1	ZNF85	19	21132125	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81	21132125	37996858	18214	25926											
ZNF85	7639	broad.mit.edu	37	chr19	21132513	21132513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatactggagagaaaccttAcaaatgtaaagaatgtggta	9	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132513A>G	ENST00000601023.1	+	2	1662	c.1016A>G	c.(1015-1017)tAc>tGc	p.Y339C	ZNF85_ENST00000328178.8_Missense_Mutation_p.Y398C|ZNF85_ENST00000345030.6_Missense_Mutation_p.Y365C			Q03923	ZNF85_HUMAN	zinc finger protein 85	398						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAAACCTTACAAATGTAAA	0.328													False	0	False	19:21132513	0	G	21132513	A	G	21132513	3	3	88	1	0	0	0	0	1	0	0	0	18275	391	14	4	1207	4	ZNF85	19	21132513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	388	21132513	37996470	18215	25927											
ZNF85	7639	broad.mit.edu	37	chr19	21132849	21132849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatactggagagaaaccatAcaaatgtgaagaatgtggca	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132849A>G	ENST00000601023.1	+	2	1998	c.1352A>G	c.(1351-1353)tAc>tGc	p.Y451C	ZNF85_ENST00000328178.8_Missense_Mutation_p.Y510C|ZNF85_ENST00000345030.6_Missense_Mutation_p.Y477C			Q03923	ZNF85_HUMAN	zinc finger protein 85	510						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAAACCATACAAATGTGAA	0.358													False	0	False	19:21132849	0	G	21132849	A	G	21132849	3	3	88	1	0	0	0	0	1	0	0	0	18275	391	14	4	1543	4	ZNF85	19	21132849	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	336	21132849	37996134	18216	25928											
ZNF430	80264	broad.mit.edu	37	chr19	21205649	21205649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaagtggatgccctgggGctgacaggaatcttctggtg	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21205649G>A	ENST00000261560.5	+	2	239	c.58G>A	c.(58-60)Gct>Act	p.A20T	ZNF430_ENST00000599548.1_Missense_Mutation_p.A20T|ZNF430_ENST00000595401.1_Missense_Mutation_p.A20T	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATGCCCTGGGGCTGACAGGAA	0.443													False	0	True	19:21205649	0	A	21205649	G	A	21205649	3	1	88	1	0	0	0	0	1	0	0	0	17987	1203	42	2	64	2	ZNF430	19	21205649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72800	21205649	37923334	18217	25929											
ZNF430	80264	broad.mit.edu	37	chr19	21239790	21239790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctaactcaacataaaagaAttcatattagggaaaattct	4	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21239790A>G	ENST00000261560.5	+	5	857	c.676A>G	c.(676-678)Att>Gtt	p.I226V		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACATAAAAGAATTCATATTAG	0.318													False	0	False	19:21239790	0	G	21239790	A	G	21239790	3	3	88	1	0	0	0	0	1	0	0	0	17987	101	4	4	694	4	ZNF430	19	21239790	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34141	21239790	37889193	18218	25930											
ZNF708	7562	broad.mit.edu	37	chr19	21476977	21476977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgtttagtaaggtttgagGaccggttaaaagctttgcca	11	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476977G>A	ENST00000356929.3	-	4	988	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AAGGTTTGAGGACCGGTTAAA	0.358													False	0	False	19:21476977	0	A	21476977	G	A	21476977	3	1	88	1	0	0	0	0	1	0	0	0	18195	1174	41	2	904	2	ZNF708	19	21476977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237187	21476977	37652006	18219	25931											
ZNF708	7562	broad.mit.edu	37	chr19	21492088	21492088	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgtctcttcatattccaGggctcttttccttgctccag	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21492088G>T	ENST00000356929.3	-	3	383	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCATATTCCAGGGCTCTTTTC	0.418													False	0	True	19:21492088	0	T	21492088	G	T	21492088	2	4	88	1	0	0	0	0	0	0	0	1	18195	987	35	3		3	ZNF708	19	21492088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15111	21492088	37636895	18220	25932											
ZNF493	284443	broad.mit.edu	37	chr19	21605913	21605913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatttgacaactacccagaGcaaaatatttcaatgtgata	6	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21605913G>T	ENST00000392288.2	+	4	561	c.452G>T	c.(451-453)aGc>aTc	p.S151I	ZNF493_ENST00000355504.4_Missense_Mutation_p.S23I|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ACTACCCAGAGCAAAATATTT	0.284													False	0	False	19:21605913	0	T	21605913	G	T	21605913	3	4	88	1	0	0	0	0	1	0	0	0	18027	971	34	3	529	3	ZNF493	19	21605913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113825	21605913	37523070	18221	25933											
ZNF429	353088	broad.mit.edu	37	chr19	21719209	21719209	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caattaagaaaaggctataaAactgtaggtgattgtaagct	9	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21719209A>C	ENST00000358491.4	+	4	562	c.354A>C	c.(352-354)aaA>aaC	p.K118N	ZNF429_ENST00000597078.1_Intron|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAGGCTATAAAACTGTAGGTG	0.343													False	0	True	19:21719209	0	C	21719209	A	C	21719209	3	2	88	1	0	0	0	0	1	0	0	0	17985	11	1	4	368	4	ZNF429	19	21719209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	113296	21719209	37409774	18222	25934											
ZNF100	163227	broad.mit.edu	37	chr19	21910465	21910465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgagttaggtgtaaaaGcatgcaaaatgatttttcac	9	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21910465G>A	ENST00000358296.6	-	5	847	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	ZNF100_ENST00000305570.6_Missense_Mutation_p.L153F	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AGGTGTAAAAGCATGCAAAAT	0.303													False	0	True	19:21910465	0	A	21910465	G	A	21910465	3	1	88	1	0	0	0	0	1	0	0	0	17796	971	34	2	983	2	ZNF100	19	21910465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191256	21910465	37218518	18223	25935											
ZNF43	7594	broad.mit.edu	37	chr19	21990912	21990912	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtttctcctcagtgtgaaTtatcttatgtttagtaagag	10	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21990912T>A	ENST00000594012.1	-	7	2423	c.1909A>T	c.(1909-1911)Att>Ttt	p.I637F	ZNF43_ENST00000595461.1_Missense_Mutation_p.I637F|ZNF43_ENST00000598381.1_Missense_Mutation_p.I637F|ZNF43_ENST00000354959.4_Missense_Mutation_p.I643F	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCAGTGTGAATTATCTTATGT	0.353													False	0	False	19:21990912	0	A	21990912	T	A	21990912	3	1	88	1	0	0	0	0	1	0	0	0	17986	1493	52	5	506	5	ZNF43	19	21990912	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80447	21990912	37138071	18224	25936											
ZNF43	7594	broad.mit.edu	37	chr19	21991035	21991035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgaagattgggtaaaagCtttgccacattcttcacatt	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21991035C>T	ENST00000594012.1	-	7	2300	c.1786G>A	c.(1786-1788)Gct>Act	p.A596T	ZNF43_ENST00000595461.1_Missense_Mutation_p.A596T|ZNF43_ENST00000598381.1_Missense_Mutation_p.A596T|ZNF43_ENST00000354959.4_Missense_Mutation_p.A602T	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGGGTAAAAGCTTTGCCACAT	0.353													False	0	True	19:21991035	0	T	21991035	C	T	21991035	3	4	88	1	0	0	0	0	1	0	0	0	17986	797	28	2	629	2	ZNF43	19	21991035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123	21991035	37137948	18225	25937											
ZNF208	7757	broad.mit.edu	37	chr19	22154655	22154655	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgaaggctttgccacattCttcacatttgtagggttttt	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22154655C>T	ENST00000397126.4	-	4	3329	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGCCACATTCTTCACATTTG	0.453													False	0	False	19:22154655	0	T	22154655	C	T	22154655	3	4	88	1	0	0	0	0	1	0	0	0	17849	922	32	2	665	2	ZNF208	19	22154655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163620	22154655	36974328	18226	25938											
ZNF208	7757	broad.mit.edu	37	chr19	22155498	22155498	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaagctttgccacattcttCacatttgtagggtttctcta	6	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22155498C>T	ENST00000397126.4	-	4	2486	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.363													False	0	False	19:22155498	0	T	22155498	C	T	22155498	3	4	88	1	0	0	0	0	1	0	0	0	17849	835	29	2	1508	2	ZNF208	19	22155498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	843	22155498	36973485	18227	25939											
ZNF208	7757	broad.mit.edu	37	chr19	22156630	22156630	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatactaaaacctttgccAcattcttcacatttgtaggg	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22156630A>G	ENST00000397126.4	-	4	1354	c.1206T>C	c.(1204-1206)tgT>tgC	p.C402C	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AACCTTTGCCACATTCTTCAC	0.383													False	0	False	19:22156630	0	G	22156630	A	G	22156630	2	3	88	1	0	0	0	0	0	0	0	1	17849	157	6	4		4	ZNF208	19	22156630	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1132	22156630	36972353	18228	25940											
ZNF257	113835	broad.mit.edu	37	chr19	22270975	22270975	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caatgtctgataactacccaGagcaaaatgtatcaatgtga	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22270975G>T	ENST00000594947.1	+	4	567	c.423G>T	c.(421-423)caG>caT	p.Q141H	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAACTACCCAGAGCAAAATGT	0.313													False	0	False	19:22270975	0	T	22270975	G	T	22270975	3	4	88	1	0	0	0	0	1	0	0	0	17883	933	33	3	437	3	ZNF257	19	22270975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114345	22270975	36858008	18229	25941											
ZNF676	163223	broad.mit.edu	37	chr19	22363338	22363338	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccacattcttcacatTtgtagggcttctcttcagca	6	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363338T>G	ENST00000397121.2	-	3	1498	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTTCACATTTGTAGGGCTT	0.423													False	0	True	19:22363338	0	G	22363338	T	G	22363338	3	3	88	1	0	0	0	0	1	0	0	0	18166	1841	64	4	589	4	ZNF676	19	22363338	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	92363	22363338	36765645	18230	25942											
ZNF676	163223	broad.mit.edu	37	chr19	22363492	22363492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcgattaaaagctttccCgcattcttcacatttgtagg	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363492C>T	ENST00000397121.2	-	3	1344	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAGCTTTCCCGCATTCTTCA	0.408													False	0	True	19:22363492	0	T	22363492	C	T	22363492	3	4	88	1	0	0	0	0	1	0	0	0	18166	652	23	1	743	1	ZNF676	19	22363492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154	22363492	36765491	18231	25943											
ZNF676	163223	broad.mit.edu	37	chr19	22363697	22363697	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagggcttctcttcagcatgAattgccttatgtgtattaag	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363697A>G	ENST00000397121.2	-	3	1139	c.822T>C	c.(820-822)atT>atC	p.I274I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTCAGCATGAATTGCCTTAT	0.393													False	0	False	19:22363697	0	G	22363697	A	G	22363697	2	3	88	1	0	0	0	0	0	0	0	1	18166	242	9	4		4	ZNF676	19	22363697	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	205	22363697	36765286	18232	25944											
ZNF492	57615	broad.mit.edu	37	chr19	22817139	22817139	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggggtctttgtctctcGctgcagtcggagtatggtct	15	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22817139G>A	ENST00000456783.2	+	0	14					NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TTTGTCTCTCGCTGCAGTCGG	0.602													False	0	True	19:22817139	0	A	22817139	G	A	22817139	1	1	88	1	0	0	0	0	0	0	0	0	18026	1102	38	1		1	ZNF492	19	22817139	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453442	22817139	36311844	18233	25945											
ZNF492	57615	broad.mit.edu	37	chr19	22847667	22847667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaatgtgaagaatgtgGcaaagcttttaacctatcgt	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847667G>A	ENST00000456783.2	+	4	1440	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GAAGAATGTGGCAAAGCTTTT	0.383													False	0	False	19:22847667	0	A	22847667	G	A	22847667	3	1	88	1	0	0	0	0	1	0	0	0	18026	1203	42	2	1206	2	ZNF492	19	22847667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30528	22847667	36281316	18234	25946											
ZNF492	57615	broad.mit.edu	37	chr19	22847718	22847718	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacacataagataattcataCtggagagaaaccctacaaat	5	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847718C>A	ENST00000456783.2	+	4	1491	c.1247C>A	c.(1246-1248)aCt>aAt	p.T416N		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATAATTCATACTGGAGAGAAA	0.378													False	0	False	19:22847718	0	A	22847718	C	A	22847718	3	1	88	1	0	0	0	0	1	0	0	0	18026	565	20	3	1257	3	ZNF492	19	22847718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51	22847718	36281265	18235	25947											
ZNF492	57615	broad.mit.edu	37	chr19	22847814	22847814	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattcatactggagagaagcCctacaaatatgaagaatgtg	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847814C>A	ENST00000456783.2	+	4	1587	c.1343C>A	c.(1342-1344)cCc>cAc	p.P448H		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGAGAGAAGCCCTACAAATAT	0.388													False	0	True	19:22847814	0	A	22847814	C	A	22847814	3	1	88	1	0	0	0	0	1	0	0	0	18026	623	22	3	1353	3	ZNF492	19	22847814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96	22847814	36281169	18236	25948											
ZNF99	7652	broad.mit.edu	37	chr19	22941527	22941527	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcttcacatttgtagggtTtctgtccagtatgaattatc	7	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22941527T>G	ENST00000397104.3	-	5	910	c.911A>C	c.(910-912)aAa>aCa	p.K304T	ZNF99_ENST00000596209.1_Missense_Mutation_p.K395T					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTGTAGGGTTTCTGTCCAGT	0.363													False	0	True	19:22941527	0	G	22941527	T	G	22941527	3	3	88	1	0	0	0	0	1	0	0	0	18286	1841	64	4	2213	4	ZNF99	19	22941527	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	93713	22941527	36187456	18237	25949											
ZNF99	7652	broad.mit.edu	37	chr19	22941668	22941668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggactggctaaaagctTtgccacattcttcacatttg	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22941668T>G	ENST00000397104.3	-	5	769	c.770A>C	c.(769-771)aAa>aCa	p.K257T	ZNF99_ENST00000596209.1_Missense_Mutation_p.K348T					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTAAAAGCTTTGCCACATTC	0.373													False	0	True	19:22941668	0	G	22941668	T	G	22941668	3	3	88	1	0	0	0	0	1	0	0	0	18286	1841	64	4	2354	4	ZNF99	19	22941668	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	141	22941668	36187315	18238	25950											
ZNF91	7644	broad.mit.edu	37	chr19	23544948	23544948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatgtctagttagggttgagGaccatagaaatgctttgcca	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23544948G>T	ENST00000300619.7	-	4	1038	c.833C>A	c.(832-834)tCc>tAc	p.S278Y	ZNF91_ENST00000397082.2_Missense_Mutation_p.S246Y|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	278						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGGGTTGAGGACCATAGAAA	0.383													False	0	False	19:23544948	0	T	23544948	G	T	23544948	3	4	88	1	0	0	0	0	1	0	0	0	18282	1174	41	3	2746	3	ZNF91	19	23544948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	603280	23544948	35584035	18239	25951											
ZNF91	7644	broad.mit.edu	37	chr19	23545140	23545140	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaaggttttttcacatTctttacatttacaggacttc	5	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23545140T>G	ENST00000300619.7	-	4	846	c.641A>C	c.(640-642)gAa>gCa	p.E214A	ZNF91_ENST00000397082.2_Missense_Mutation_p.E182A|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	214						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTTTCACATTCTTTACATTT	0.328													False	0	False	19:23545140	0	G	23545140	T	G	23545140	3	3	88	1	0	0	0	0	1	0	0	0	18282	1783	62	4	2938	4	ZNF91	19	23545140	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	192	23545140	35583843	18240	25952											
ZNF91	7644	broad.mit.edu	37	chr19	23545395	23545395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaccttacactcatccAcacttttacaaccttttctt	2	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23545395A>G	ENST00000300619.7	-	4	591	c.386T>C	c.(385-387)gTg>gCg	p.V129A	ZNF91_ENST00000397082.2_Missense_Mutation_p.V97A|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	129						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACACTCATCCACACTTTTACA	0.348													False	0	False	19:23545395	0	G	23545395	A	G	23545395	3	3	88	1	0	0	0	0	1	0	0	0	18282	159	6	4	3193	4	ZNF91	19	23545395	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	255	23545395	35583588	18241	25953											
ZNF675	171392	broad.mit.edu	37	chr19	23836530	23836530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagtgtttaaaagctttgCcacattctttacatttgtag	8	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23836530C>T	ENST00000359788.4	-	4	1373	c.1205G>A	c.(1204-1206)gGc>gAc	p.G402D	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	402					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAAAGCTTTGCCACATTCTTT	0.393													False	0	False	19:23836530	0	T	23836530	C	T	23836530	3	4	88	1	0	0	0	0	1	0	0	0	18165	739	26	2	505	2	ZNF675	19	23836530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291135	23836530	35292453	18242	25954											
ZNF675	171392	broad.mit.edu	37	chr19	23837503	23837503	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgggcaaaatgagaacAcattactgaaagaaataaaa	7	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23837503A>C	ENST00000359788.4	-	4	400	c.232T>G	c.(232-234)Tgt>Ggt	p.C78G	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	78					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAATGAGAACACATTACTGAA	0.289													False	0	False	19:23837503	0	C	23837503	A	C	23837503	3	2	88	1	0	0	0	0	1	0	0	0	18165	159	6	4	1478	4	ZNF675	19	23837503	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	973	23837503	35291480	18243	25955											
ZNF675	171392	broad.mit.edu	37	chr19	23845935	23845935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagagagaattctatgGccacatccctaaatgtcaac	6	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23845935G>A	ENST00000359788.4	-	2	197	c.29C>T	c.(28-30)gCc>gTc	p.A10V	ZNF675_ENST00000601935.1_Missense_Mutation_p.A10V|ZNF675_ENST00000601010.1_Missense_Mutation_p.A10V|ZNF675_ENST00000596211.1_Missense_Mutation_p.A10V|ZNF675_ENST00000600313.1_Missense_Mutation_p.A10V|ZNF675_ENST00000599168.1_Missense_Mutation_p.A10V	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	10	KRAB.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GAATTCTATGGCCACATCCCT	0.393													False	0	False	19:23845935	0	A	23845935	G	A	23845935	3	1	88	1	0	0	0	0	1	0	0	0	18165	1203	42	2	1689	2	ZNF675	19	23845935	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8432	23845935	35283048	18244	25956											
ZNF681	148213	broad.mit.edu	37	chr19	23927387	23927387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgtctggtaaggtgtgagGactggttgaaagctttgcca	14	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23927387G>A	ENST00000402377.3	-	4	1106	c.965C>T	c.(964-966)tCc>tTc	p.S322F	ZNF681_ENST00000395385.3_Missense_Mutation_p.S253F	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGGTGTGAGGACTGGTTGAA	0.388													False	0	False	19:23927387	0	A	23927387	G	A	23927387	3	1	88	1	0	0	0	0	1	0	0	0	18171	1174	41	2	976	2	ZNF681	19	23927387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81452	23927387	35201596	18245	25957											
ZNF254	9534	broad.mit.edu	37	chr19	24289407	24289407	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaagggaaagagccctGgaatatgaagcgacatgaga	14	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:24289407G>A	ENST00000357002.4	+	3	330	c.215G>A	c.(214-216)tGg>tAg	p.W72*	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Nonsense_Mutation_p.W72*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	72	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AAAGAGCCCTGGAATATGAAG	0.423													False	0	False	19:24289407	0	A	24289407	G	A	24289407	4	1	88	1	0	0	0	0	0	1	0	0	17881	1357	47	2	225	2	ZNF254	19	24289407	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	362020	24289407	34839576	18246	25958											
UQCRFS1	7386	broad.mit.edu	37	chr19	29698753	29698753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgggttctatgacgcAcaaacaggggtttgcctctc	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:29698753A>G	ENST00000304863.4	-	2	949	c.527T>C	c.(526-528)gTg>gCg	p.V176A		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	176					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TCTATGACGCACAAACAGGGG	0.453													False	0	False	19:29698753	0	G	29698753	A	G	29698753	3	3	88	1	0	0	0	0	1	0	0	0	17105	159	6	4	301	4	UQCRFS1	19	29698753	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5409346	29698753	29430230	18247	25959											
C19orf12	83636	broad.mit.edu	37	chr19	30193830	30193830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattaggatctgaggaaccGgcttaaactgtccacttgtc	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30193830G>A	ENST00000323670.9	-	3	354	c.215C>T	c.(214-216)cCg>cTg	p.P72L	C19orf12_ENST00000392278.2_Missense_Mutation_p.P83L|C19orf12_ENST00000392276.1_Missense_Mutation_p.P8L|C19orf12_ENST00000592153.1_Missense_Mutation_p.P72L|C19orf12_ENST00000392275.1_5'UTR	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	72						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CTGAGGAACCGGCTTAAACTG	0.557													False	0	False	19:30193830	0	A	30193830	G	A	30193830	3	1	88	1	0	0	0	0	1	0	0	0	1924	1116	39	1	214	1	C19orf12	19	30193830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	495077	30193830	28935153	18248	25960											
C19orf12	83636	broad.mit.edu	37	chr19	30199248	30199248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccttcccagagtgcttgaCagccgccttcatcttcctct	6	17	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30199248C>T	ENST00000323670.9	-	2	212	c.73G>A	c.(73-75)Gtc>Atc	p.V25I	C19orf12_ENST00000392278.2_Missense_Mutation_p.V36I|C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000592153.1_Missense_Mutation_p.V25I|C19orf12_ENST00000392275.1_Intron	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	25						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GAGTGCTTGACAGCCGCCTTC	0.617													False	0	False	19:30199248	0	T	30199248	C	T	30199248	3	4	88	1	0	0	0	0	1	0	0	0	1924	478	17	2	360	2	C19orf12	19	30199248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5418	30199248	28929735	18249	25961											
CCNE1	898	broad.mit.edu	37	chr19	30312955	30312955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcctggctgaatgtatAcatgcaggttgcatatctaa	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30312955A>G	ENST00000262643.3	+	9	1037	c.758A>G	c.(757-759)tAc>tGc	p.Y253C	CCNE1_ENST00000444983.2_Missense_Mutation_p.Y238C|CCNE1_ENST00000357943.5_Missense_Mutation_p.Y210C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	253					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CTGAATGTATACATGCAGGTT	0.433			A		serous ovarian								False	0	False	19:30312955	0	G	30312955	A	G	30312955	3	3	88	1	0	0	0	0	1	0	0	0	2943	391	14	4	788	4	CCNE1	19	30312955	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	113707	30312955	28816028	18250	25962											
CCNE1	898	broad.mit.edu	37	chr19	30313164	30313164	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tagctgttggatctctgtgtCctggatgttgactgccttga	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30313164C>A	ENST00000262643.3	+	10	1137	c.858C>A	c.(856-858)gtC>gtA	p.V286V	CCNE1_ENST00000444983.2_Silent_p.V271V|CCNE1_ENST00000357943.5_Silent_p.V243V	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	286					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ATCTCTGTGTCCTGGATGTTG	0.473			A		serous ovarian								False	0	False	19:30313164	0	A	30313164	C	A	30313164	2	1	88	1	0	0	0	0	0	0	0	1	2943	842	30	3		3	CCNE1	19	30313164	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209	30313164	28815819	18251	25963											
CCNE1	898	broad.mit.edu	37	chr19	30313366	30313366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagggtatcagtggtgCgacatagagaactgtgtcaa	13	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30313366C>T	ENST00000262643.3	+	11	1245	c.966C>T	c.(964-966)tgC>tgT	p.C322C	CCNE1_ENST00000444983.2_Silent_p.C307C|CCNE1_ENST00000357943.5_Silent_p.C279C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	322					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ATCAGTGGTGCGACATAGAGA	0.498			A		serous ovarian								False	0	False	19:30313366	0	T	30313366	C	T	30313366	2	4	88	1	0	0	0	0	0	0	0	1	2943	776	27	1		1	CCNE1	19	30313366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202	30313366	28815617	18252	25964											
ZNF536	9745	broad.mit.edu	37	chr19	30934897	30934897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcgcttccgcttcaacaGcatcctctccctgcacatgc	6	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30934897G>A	ENST00000355537.3	+	2	575	c.428G>A	c.(427-429)aGc>aAc	p.S143N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGCTTCAACAGCATCCTCTCC	0.622													False	0	False	19:30934897	0	A	30934897	G	A	30934897	3	1	88	1	0	0	0	0	1	0	0	0	18057	971	34	2	430	2	ZNF536	19	30934897	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	621531	30934897	28194086	18253	25965											
ZNF536	9745	broad.mit.edu	37	chr19	30935229	30935229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcccgacgtggcccacCcggtgccctcgcccaagcct	11	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30935229C>T	ENST00000355537.3	+	2	907	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGTGGCCCACCCGGTGCCCTC	0.736													False	0	True	19:30935229	0	T	30935229	C	T	30935229	3	4	88	1	0	0	0	0	1	0	0	0	18057	623	22	2	762	2	ZNF536	19	30935229	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332	30935229	28193754	18254	25966											
ZNF536	9745	broad.mit.edu	37	chr19	30935664	30935664	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtccacctcaacaagCtgtcggtgaagaacaagtcc	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30935664C>A	ENST00000355537.3	+	2	1342	c.1195C>A	c.(1195-1197)Ctg>Atg	p.L399M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTCAACAAGCTGTCGGTGAA	0.607													False	0	False	19:30935664	0	A	30935664	C	A	30935664	3	1	88	1	0	0	0	0	1	0	0	0	18057	796	28	3	1197	3	ZNF536	19	30935664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	435	30935664	28193319	18255	25967											
ZNF536	9745	broad.mit.edu	37	chr19	31040060	31040060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccaagggggagaacaaCgatgaagaggatgttgaaac	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31040060C>T	ENST00000355537.3	+	4	3681	c.3534C>T	c.(3532-3534)aaC>aaT	p.N1178N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGAGAACAACGATGAAGAGG	0.552													False	0	False	19:31040060	0	T	31040060	C	T	31040060	2	4	88	1	0	0	0	0	0	0	0	1	18057	535	19	1		1	ZNF536	19	31040060	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104396	31040060	28088923	18256	25968											
TSHZ3	57616	broad.mit.edu	37	chr19	31767496	31767496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacagaaggtggtcttccGgagatttcccgtgtgttttg	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31767496G>A	ENST00000240587.4	-	2	3530	c.3203C>T	c.(3202-3204)cCg>cTg	p.P1068L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1068					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P885L(1)|p.P1068L(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGGTCTTCCGGAGATTTCCC	0.468													False	0	False	19:31767496	0	A	31767496	G	A	31767496	3	1	88	1	0	0	0	0	1	0	0	0	16708	1116	39	1	46	1	TSHZ3	19	31767496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	727436	31767496	27361487	18257	25969											
TSHZ3	57616	broad.mit.edu	37	chr19	31768179	31768179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatctgacaaggcattctcGcgtagcggcgagtttgacat	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31768179G>A	ENST00000240587.4	-	2	2847	c.2520C>T	c.(2518-2520)cgC>cgT	p.R840R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	840					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGCATTCTCGCGTAGCGGCG	0.522													False	0	False	19:31768179	0	A	31768179	G	A	31768179	2	1	88	1	0	0	0	0	0	0	0	1	16708	1074	38	1		1	TSHZ3	19	31768179	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	683	31768179	27360804	18258	25970											
TSHZ3	57616	broad.mit.edu	37	chr19	31770107	31770107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagagcttgctgctctgccGgtacagctgcacggtgctga	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31770107G>A	ENST00000240587.4	-	2	919	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	198					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTGCTCTGCCGGTACAGCTGC	0.627													False	0	False	19:31770107	0	A	31770107	G	A	31770107	3	1	88	1	0	0	0	0	1	0	0	0	16708	1115	39	1	2657	1	TSHZ3	19	31770107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1928	31770107	27358876	18259	25971											
DPY19L3	147991	broad.mit.edu	37	chr19	32954831	32954831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatcattcggcctatgtaGccctgaaatatgggagttac	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:32954831G>A	ENST00000342179.5	+	14	1717	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	DPY19L3_ENST00000586987.1_Missense_Mutation_p.S501N|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.S501N	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	501						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GGCCTATGTAGCCCTGAAATA	0.438													False	0	True	19:32954831	0	A	32954831	G	A	32954831	3	1	88	1	0	0	0	0	1	0	0	0	4772	971	34	2	1552	2	DPY19L3	19	32954831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1184724	32954831	26174152	18260	25972											
DPY19L3	147991	broad.mit.edu	37	chr19	32971376	32971376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccttcggcactgactaCgtaatcctggaagacagcat	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:32971376C>T	ENST00000342179.5	+	18	2117	c.1902C>T	c.(1900-1902)taC>taT	p.Y634Y	DPY19L3_ENST00000586987.1_Silent_p.Y634Y|DPY19L3_ENST00000392250.2_Silent_p.Y634Y	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	634						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GCACTGACTACGTAATCCTGG	0.552													False	0	False	19:32971376	0	T	32971376	C	T	32971376	2	4	88	1	0	0	0	0	0	0	0	1	4772	547	19	1		1	DPY19L3	19	32971376	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16545	32971376	26157607	18261	25973											
PDCD5	9141	broad.mit.edu	37	chr19	33076792	33076792	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taccttatacagatggcaagAtatggacaactaagtgagaa	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33076792A>T	ENST00000419343.3	+	4	298	c.237A>T	c.(235-237)agA>agT	p.R79S	PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000586035.1_Missense_Mutation_p.R41S|PDCD5_ENST00000590247.2_Missense_Mutation_p.R79S|PDCD5_ENST00000592786.1_Intron			O14737	PDCD5_HUMAN	programmed cell death 5						apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					AGATGGCAAGATATGGACAAC	0.348													False	0	False	19:33076792	0	T	33076792	A	T	33076792	3	4	88	1	0	0	0	0	1	0	0	0	11690	330	12	5	251	5	PDCD5	19	33076792	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105416	33076792	26052191	18262	25974											
RGS9BP	388531	broad.mit.edu	37	chr19	33167833	33167833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttttcggcgccgtgctgCtggcggctgtggccctagcc	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33167833C>T	ENST00000334176.3	+	1	1521	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L		NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	222					negative regulation of signal transduction	integral to membrane				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CGCCGTGCTGCTGGCGGCTGT	0.721													False	0	False	19:33167833	0	T	33167833	C	T	33167833	2	4	88	1	0	0	0	0	0	0	0	1	13393	796	28	2		2	RGS9BP	19	33167833	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91041	33167833	25961150	18263	25975											
NUDT19	390916	broad.mit.edu	37	chr19	33183175	33183175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgcaccgctttcccgtcGctgcccgacaccgatgacca	9	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33183175G>A	ENST00000397061.3	+	1	309	c.309G>A	c.(307-309)tcG>tcA	p.S103S		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	103	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CTTTCCCGTCGCTGCCCGACA	0.721													False	0	False	19:33183175	0	A	33183175	G	A	33183175	2	1	88	1	0	0	0	0	0	0	0	1	10804	1074	38	1		1	NUDT19	19	33183175	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15342	33183175	25945808	18264	25976											
NUDT19	390916	broad.mit.edu	37	chr19	33200284	33200284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttaactgctgatgggatggTccatcttttaccaggtaaac	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33200284T>C	ENST00000397061.3	+	2	908	c.908T>C	c.(907-909)gTc>gCc	p.V303A		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	303						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GATGGGATGGTCCATCTTTTA	0.473													False	0	False	19:33200284	0	C	33200284	T	C	33200284	3	2	88	1	0	0	0	0	1	0	0	0	10804	1667	58	4	914	4	NUDT19	19	33200284	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17109	33200284	25928699	18265	25977											
NUDT19	390916	broad.mit.edu	37	chr19	33202821	33202821	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagccaaagtataaacaCgtttatcctaagaactctgt	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33202821C>T	ENST00000397061.3	+	3	1086	c.1086C>T	c.(1084-1086)caC>caT	p.H362H		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	362						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AGTATAAACACGTTTATCCTA	0.408													False	0	False	19:33202821	0	T	33202821	C	T	33202821	2	4	88	1	0	0	0	0	0	0	0	1	10804	535	19	1		1	NUDT19	19	33202821	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2537	33202821	25926162	18266	25978											
SLC7A9	11136	broad.mit.edu	37	chr19	33355586	33355586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgatgaggcagggccccaCagcttccgtgttgctgagca	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33355586C>T	ENST00000023064.4	-	3	375	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	SLC7A9_ENST00000590341.1_Missense_Mutation_p.V62M|SLC7A9_ENST00000587772.1_Missense_Mutation_p.V62M	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	62					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CAGGGCCCCACAGCTTCCGTG	0.617													False	0	False	19:33355586	0	T	33355586	C	T	33355586	3	4	88	1	0	0	0	0	1	0	0	0	14785	478	17	2	1323	2	SLC7A9	19	33355586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152765	33355586	25773397	18267	25979											
SLC7A9	11136	broad.mit.edu	37	chr19	33355629	33355629	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttgggggaaacgaagatCccagagccaatgatggtgcc	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33355629C>T	ENST00000023064.4	-	3	332	c.141G>A	c.(139-141)ggG>ggA	p.G47G	SLC7A9_ENST00000590341.1_Silent_p.G47G|SLC7A9_ENST00000587772.1_Silent_p.G47G	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	47					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	AAACGAAGATCCCAGAGCCAA	0.617													False	0	True	19:33355629	0	T	33355629	C	T	33355629	2	4	88	1	0	0	0	0	0	0	0	1	14785	842	30	2		2	SLC7A9	19	33355629	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43	33355629	25773354	18268	25980											
C19orf40	91442	broad.mit.edu	37	chr19	33464384	33464384	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaccagacttttatctgtcGaacagatgctgcattcttta	6	10	2	2	rs146261594		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33464384G>A	ENST00000588258.1	+	3	269	c.159G>A	c.(157-159)tcG>tcA	p.S53S	C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000590281.1_Silent_p.S53S|C19orf40_ENST00000589646.1_5'UTR	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	53					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TTTATCTGTCGAACAGATGCT	0.403								Direct reversal of damage					False	0	False	19:33464384	0	A	33464384	G	A	33464384	2	1	88	1	0	0	0	0	0	0	0	1	1938	1045	37	1		1	C19orf40	19	33464384	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108755	33464384	25664599	18269	25981											
RHPN2	85415	broad.mit.edu	37	chr19	33486990	33486990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctggtgctgggcGtacgtgagccgggagcgttc	15	13	0	1	rs142685730		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33486990G>A	ENST00000254260.3	-	11	1397	c.1362C>T	c.(1360-1362)taC>taT	p.Y454Y	RHPN2_ENST00000400226.4_Silent_p.Y303Y	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	454	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGTGCTGGGCGTACGTGAGCC	0.622													False	0	False	19:33486990	0	A	33486990	G	A	33486990	2	1	88	1	0	0	0	0	0	0	0	1	13430	1140	40	1		1	RHPN2	19	33486990	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22606	33486990	25641993	18270	25982											
GPATCH1	55094	broad.mit.edu	37	chr19	33588747	33588747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgacactgttctgaaggaCgaggagcctggagacggact	14	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33588747C>T	ENST00000170564.2	+	8	1253	c.939C>T	c.(937-939)gaC>gaT	p.D313D		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	313						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTCTGAAGGACGAGGAGCCTG	0.463													False	0	False	19:33588747	0	T	33588747	C	T	33588747	2	4	88	1	0	0	0	0	0	0	0	1	6636	535	19	1		1	GPATCH1	19	33588747	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101757	33588747	25540236	18271	25983											
WDR88	126248	broad.mit.edu	37	chr19	33647385	33647385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggagtttcgaaactgtggaGcctgtgtgactctgatgcag	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33647385G>T	ENST00000361680.2	+	7	1012	c.934G>T	c.(934-936)Gcc>Tcc	p.A312S	WDR88_ENST00000355868.3_Missense_Mutation_p.A312S			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	312										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AAACTGTGGAGCCTGTGTGAC	0.473													False	0	False	19:33647385	0	T	33647385	G	T	33647385	3	4	88	1	0	0	0	0	1	0	0	0	17419	971	34	3	960	3	WDR88	19	33647385	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58638	33647385	25481598	18272	25984											
LRP3	4037	broad.mit.edu	37	chr19	33696342	33696342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcccatgcagcggggcGcgctccacgcgctgcctgcc	12	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33696342G>A	ENST00000253193.7	+	5	868	c.666G>A	c.(664-666)gcG>gcA	p.A222A		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	222	LDL-receptor class A 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGCGGGGCGCGCTCCACGC	0.741													False	0	True	19:33696342	0	A	33696342	G	A	33696342	2	1	88	1	0	0	0	0	0	0	0	1	9020	1074	38	1		1	LRP3	19	33696342	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48957	33696342	25432641	18273	25985											
LRP3	4037	broad.mit.edu	37	chr19	33696652	33696652	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accgcctgctgcagacgctgTcctaccgcagcaaccaccgg	10	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33696652T>C	ENST00000253193.7	+	5	1178	c.976T>C	c.(976-978)Tcc>Ccc	p.S326P		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	326	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGACGCTGTCCTACCGCAG	0.721													False	0	False	19:33696652	0	C	33696652	T	C	33696652	3	2	88	1	0	0	0	0	1	0	0	0	9020	1667	58	4	994	4	LRP3	19	33696652	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	310	33696652	25432331	18274	25986											
SLC7A10	56301	broad.mit.edu	37	chr19	33701722	33701722	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttacacagacgaggagggCggggatgggggtgcagtgtc	19	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33701722C>A	ENST00000253188.4	-	8	1245	c.1099G>T	c.(1099-1101)Gcc>Tcc	p.A367S		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10						blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ACGAGGAGGGCGGGGATGGGG	0.667													False	0	True	19:33701722	0	A	33701722	C	A	33701722	3	1	88	1	0	0	0	0	1	0	0	0	14773	768	27	3	488	3	SLC7A10	19	33701722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5070	33701722	25427261	18275	25987											
SLC7A10	56301	broad.mit.edu	37	chr19	33706682	33706682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccccacactcacccagccaGgcccccgaagatctctgtga	8	19	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33706682G>T	ENST00000253188.4	-	2	495	c.349C>A	c.(349-351)Ctg>Atg	p.L117M		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10						blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CACCCAGCCAGGCCCCCGAAG	0.652													False	0	True	19:33706682	0	T	33706682	G	T	33706682	3	4	88	1	0	0	0	0	1	0	0	0	14773	991	35	3	1262	3	SLC7A10	19	33706682	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4960	33706682	25422301	18276	25988											
CHST8	64377	broad.mit.edu	37	chr19	34263210	34263210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaccgggcgagcagcagcCgccgggccgtcacgccccgc	15	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263210C>T	ENST00000262622.4	+	4	1275	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	CHST8_ENST00000438847.3_Missense_Mutation_p.R173C|CHST8_ENST00000434302.1_Missense_Mutation_p.R173C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GAGCAGCAGCCGCCGGGCCGT	0.706													False	0	True	19:34263210	0	T	34263210	C	T	34263210	3	4	88	1	0	0	0	0	1	0	0	0	3433	652	23	1	527	1	CHST8	19	34263210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	556528	34263210	24865773	18277	25989											
CHST8	64377	broad.mit.edu	37	chr19	34263465	34263465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccaagatgctctttgtcCgcgagcccttcgagaggctg	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263465C>T	ENST00000262622.4	+	4	1530	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	CHST8_ENST00000438847.3_Missense_Mutation_p.R258C|CHST8_ENST00000434302.1_Missense_Mutation_p.R258C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCTCTTTGTCCGCGAGCCCTT	0.607													False	0	False	19:34263465	0	T	34263465	C	T	34263465	3	4	88	1	0	0	0	0	1	0	0	0	3433	652	23	1	782	1	CHST8	19	34263465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255	34263465	24865518	18278	25990											
CHST8	64377	broad.mit.edu	37	chr19	34263870	34263870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcgcccaccagtacttcGcccaactctcggccctgcaa	8	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263870G>A	ENST00000262622.4	+	4	1935	c.1177G>A	c.(1177-1179)Gcc>Acc	p.A393T	CHST8_ENST00000438847.3_Missense_Mutation_p.A393T|CHST8_ENST00000434302.1_Missense_Mutation_p.A393T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCAGTACTTCGCCCAACTCTC	0.602													False	0	True	19:34263870	0	A	34263870	G	A	34263870	3	1	88	1	0	0	0	0	1	0	0	0	3433	1087	38	1	1187	1	CHST8	19	34263870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	405	34263870	24865113	18279	25991											
LSM14A	26065	broad.mit.edu	37	chr19	34663663	34663663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactccaccgtagcccttgCcaaaggtacgcgggaccggg	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34663663C>T	ENST00000544216.3	+	1	193	c.116C>T	c.(115-117)gCc>gTc	p.A39V	LSM14A_ENST00000540746.2_Missense_Mutation_p.A39V|LSM14A_ENST00000433627.5_Missense_Mutation_p.A39V	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	39					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GTAGCCCTTGCCAAAGGTACG	0.687													False	0	False	19:34663663	0	T	34663663	C	T	34663663	3	4	88	1	0	0	0	0	1	0	0	0	9116	739	26	2	118	2	LSM14A	19	34663663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399793	34663663	24465320	18280	25992											
LSM14A	26065	broad.mit.edu	37	chr19	34710328	34710328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagctccaaggagagggCgtgggggtcatcggggtggc	19	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34710328C>T	ENST00000544216.3	+	7	891	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	LSM14A_ENST00000540746.2_Missense_Mutation_p.R231C|LSM14A_ENST00000433627.5_Missense_Mutation_p.R272C	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	272					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.R272C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AAGGAGAGGGCGTGGGGGTCA	0.438													False	0	True	19:34710328	0	T	34710328	C	T	34710328	3	4	88	1	0	0	0	0	1	0	0	0	9116	768	27	1	840	1	LSM14A	19	34710328	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46665	34710328	24418655	18281	25993											
LSM14A	26065	broad.mit.edu	37	chr19	34710699	34710699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaacagtgaaggaaatgcCgatgaagaagatccacttgg	11	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34710699C>T	ENST00000544216.3	+	8	1130	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	LSM14A_ENST00000540746.2_Silent_p.A310A|LSM14A_ENST00000433627.5_Silent_p.A351A	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	351					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AAGGAAATGCCGATGAAGAAG	0.353													False	0	False	19:34710699	0	T	34710699	C	T	34710699	2	4	88	1	0	0	0	0	0	0	0	1	9116	639	23	1		1	LSM14A	19	34710699	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	371	34710699	24418284	18282	25994											
KIAA0355	9710	broad.mit.edu	37	chr19	34791678	34791678	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtactttcctcacagatctCttcagcactgtgttcaggaa	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34791678C>A	ENST00000299505.6	+	2	1173	c.300C>A	c.(298-300)ctC>ctA	p.L100L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	100										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCACAGATCTCTTCAGCACTG	0.547													False	0	False	19:34791678	0	A	34791678	C	A	34791678	2	1	88	1	0	0	0	0	0	0	0	1	8220	900	32	3		3	KIAA0355	19	34791678	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80979	34791678	24337305	18283	25995											
KIAA0355	9710	broad.mit.edu	37	chr19	34832959	34832959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggcaccccaggctggggCacacacacctctgacacccc	10	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34832959C>T	ENST00000299505.6	+	10	2993	c.2120C>T	c.(2119-2121)gCa>gTa	p.A707V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	707										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CAGGCTGGGGCACACACACCT	0.632													False	0	True	19:34832959	0	T	34832959	C	T	34832959	3	4	88	1	0	0	0	0	1	0	0	0	8220	710	25	2	2154	2	KIAA0355	19	34832959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41281	34832959	24296024	18284	25996											
GPI	2821	broad.mit.edu	37	chr19	34884918	34884918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgggtgtgagacacacGccatgctgccctatgaccag	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34884918G>A	ENST00000415930.3	+	12	1212	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	GPI_ENST00000356487.5_Missense_Mutation_p.A337T|GPI_ENST00000586425.1_Missense_Mutation_p.A337T	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	337					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TGAGACACACGCCATGCTGCC	0.602													False	0	True	19:34884918	0	A	34884918	G	A	34884918	3	1	88	1	0	0	0	0	1	0	0	0	6657	1087	38	1	1176	1	GPI	19	34884918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51959	34884918	24244065	18285	25997											
GPI	2821	broad.mit.edu	37	chr19	34887303	34887303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggagccagggaccaatgGccagcatgctttttaccagc	14	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34887303G>A	ENST00000415930.3	+	13	1363	c.1193G>A	c.(1192-1194)gGc>gAc	p.G398D	GPI_ENST00000356487.5_Missense_Mutation_p.G387D|GPI_ENST00000586425.1_Missense_Mutation_p.G387D	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	387					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGGACCAATGGCCAGCATGCT	0.562													False	0	False	19:34887303	0	A	34887303	G	A	34887303	3	1	88	1	0	0	0	0	1	0	0	0	6657	1203	42	2	1331	2	GPI	19	34887303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2385	34887303	24241680	18286	25998											
UBA2	10054	broad.mit.edu	37	chr19	34925772	34925772	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactgtttgttttacttccaGctgcccgaaaccatgttaat	6	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34925772G>T	ENST00000439527.2	+	5	568		c.e5-1		UBA2_ENST00000246548.4_Splice_Site			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2						protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTACTTCCAGCTGCCCGAAA	0.353													False	0	False	19:34925772	0	T	34925772	G	T	34925772	5	4	88	1	0	0	0	0	0	0	1	0	16912	985	34	3	376	3	UBA2	19	34925772	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38469	34925772	24203211	18287	25999											
UBA2	10054	broad.mit.edu	37	chr19	34957800	34957800	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaagacctaggaaaggAcgttgaatttgaagttgttg	13	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34957800A>G	ENST00000439527.2	+	16	1832	c.1334A>G	c.(1333-1335)gAc>gGc	p.D445G	UBA2_ENST00000592791.1_Missense_Mutation_p.D67G|UBA2_ENST00000246548.4_Missense_Mutation_p.D541G			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	541					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	p.D541V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTAGGAAAGGACGTTGAATTT	0.458													False	0	False	19:34957800	0	G	34957800	A	G	34957800	3	3	88	1	0	0	0	0	1	0	0	0	16912	275	10	4	1684	4	UBA2	19	34957800	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32028	34957800	24171183	18288	26000											
WTIP	126374	broad.mit.edu	37	chr19	34991053	34991053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggactgcgggctgcagctgaGcggggaggagggacgccgtt	21	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34991053G>T	ENST00000590071.2	+	8	1509	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	WTIP_ENST00000270288.6_Missense_Mutation_p.S615I	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTGCAGCTGAGCGGGGAGGAG	0.677													False	0	False	19:34991053	0	T	34991053	G	T	34991053	3	4	88	1	0	0	0	0	1	0	0	0	17494	971	34	3	1202	3	WTIP	19	34991053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33253	34991053	24137930	18289	26001											
ZNF792	126375	broad.mit.edu	37	chr19	35449350	35449350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgctcaccagtgtgaactCgctgatgtttcatgaggtca	11	11	3	3	rs146414036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35449350C>T	ENST00000404801.1	-	4	1795	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	ZNF792_ENST00000605484.1_Missense_Mutation_p.R403Q	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGTGTGAACTCGCTGATGTTT	0.512													False	0	False	19:35449350	0	T	35449350	C	T	35449350	3	4	88	1	0	0	0	0	1	0	0	0	18246	884	31	1	493	1	ZNF792	19	35449350	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	458297	35449350	23679633	18290	26002											
GRAMD1A	57655	broad.mit.edu	37	chr19	35501086	35501086	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctacagcaacatcttccGctgggagaccacggtgagcc	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35501086G>A	ENST00000504615.2	+	0	572				GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R132H|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R226H|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R139H|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R139H|GRAMD1A_ENST00000598073.1_3'UTR			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A							integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AACATCTTCCGCTGGGAGACC	0.657													False	0	False	19:35501086	0	A	35501086	G	A	35501086	1	1	88	1	0	0	0	0	0	0	0	0	6794	1087	38	1		1	GRAMD1A	19	35501086	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51736	35501086	23627897	18291	26003											
HPN	3249	broad.mit.edu	37	chr19	35550662	35550662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctcctcgcgctccaaCgccagggtagccggactcag	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35550662C>T	ENST00000262626.2	+	5	1071	c.246C>T	c.(244-246)aaC>aaT	p.N82N	HPN_ENST00000392226.1_Silent_p.N82N|HPN_ENST00000597419.1_Silent_p.N34N|HPN_ENST00000600675.1_3'UTR|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	82	SRCR.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CGCGCTCCAACGCCAGGGTAG	0.682													False	0	False	19:35550662	0	T	35550662	C	T	35550662	2	4	88	1	0	0	0	0	0	0	0	1	7383	535	19	1		1	HPN	19	35550662	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49576	35550662	23578321	18292	26004											
LGI4	163175	broad.mit.edu	37	chr19	35616231	35616231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagggccggaggccccaGctcctgcagtggctccagga	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35616231G>T	ENST00000310123.3	-	9	1999	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	494						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGAGGCCCCAGCTCCTGCAGT	0.652													False	0	False	19:35616231	0	T	35616231	G	T	35616231	3	4	88	1	0	0	0	0	1	0	0	0	8806	962	34	3	137	3	LGI4	19	35616231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65569	35616231	23512752	18293	26005											
FXYD5	53827	broad.mit.edu	37	chr19	35657206	35657206	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcgcagctgtgctgttcatCacaggcatcatcatcctcac	8	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35657206C>T	ENST00000342879.3	+	7	1243	c.465C>T	c.(463-465)atC>atT	p.I155I	FXYD5_ENST00000541435.2_Silent_p.I155I|FXYD5_ENST00000588699.1_Silent_p.I155I|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392217.3_Silent_p.I84I|FXYD5_ENST00000423817.3_Silent_p.I155I|FXYD5_ENST00000392219.2_Silent_p.I155I|FXYD5_ENST00000590686.1_Silent_p.I155I|FXYD5_ENST00000543307.1_Silent_p.I155I			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	155					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGCTGTTCATCACAGGCATCA	0.557													False	0	False	19:35657206	0	T	35657206	C	T	35657206	2	4	88	1	0	0	0	0	0	0	0	1	6163	816	29	2		2	FXYD5	19	35657206	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40975	35657206	23471777	18294	26006											
CD22	933	broad.mit.edu	37	chr19	35836007	35836007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagaattccagcggccagaGcttctttgtgaggaataaaa	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35836007G>T	ENST00000085219.5	+	11	2252	c.2186G>T	c.(2185-2187)aGc>aTc	p.S729I	CD22_ENST00000270311.6_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.S729I|CD22_ENST00000419549.2_Missense_Mutation_p.S557I|CD22_ENST00000341773.6_Missense_Mutation_p.S552I|CD22_ENST00000536635.2_Missense_Mutation_p.S641I|CD22_ENST00000594250.1_Missense_Mutation_p.S552I	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	729					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGCGGCCAGAGCTTCTTTGTG	0.552													False	0	False	19:35836007	0	T	35836007	G	T	35836007	3	4	88	1	0	0	0	0	1	0	0	0	3008	971	34	3	2224	3	CD22	19	35836007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178801	35836007	23292976	18295	26007											
CD22	933	broad.mit.edu	37	chr19	35837493	35837493	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actatgagaacgtcattccaGattttccagaagatgagggg	11	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35837493G>T	ENST00000085219.5	+	14	2503	c.2437G>T	c.(2437-2439)Gat>Tat	p.D813Y	CD22_ENST00000270311.6_Missense_Mutation_p.D628Y|CD22_ENST00000544992.2_3'UTR|CD22_ENST00000419549.2_Missense_Mutation_p.D641Y|CD22_ENST00000341773.6_Missense_Mutation_p.D636Y|CD22_ENST00000536635.2_Missense_Mutation_p.D725Y|CD22_ENST00000594250.1_Missense_Mutation_p.D636Y	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	813					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CGTCATTCCAGATTTTCCAGA	0.542													False	0	False	19:35837493	0	T	35837493	G	T	35837493	3	4	88	1	0	0	0	0	1	0	0	0	3008	942	33	3	2487	3	CD22	19	35837493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1486	35837493	23291490	18296	26008											
FFAR3	2865	broad.mit.edu	37	chr19	35850667	35850667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgactttcatgagctgctgaGgaggttgtgtgggctctggg	17	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35850667G>A	ENST00000327809.4	+	2	1076	c.875G>A	c.(874-876)aGg>aAg	p.R292K	FFAR3_ENST00000594310.1_Missense_Mutation_p.R292K	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	292						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	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)			GAGCTGCTGAGGAGGTTGTGT	0.592													False	0	False	19:35850667	0	A	35850667	G	A	35850667	3	1	88	1	0	0	0	0	1	0	0	0	5869	1000	35	2	877	2	FFAR3	19	35850667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13174	35850667	23278316	18297	26009											
SBSN	374897	broad.mit.edu	37	chr19	36018273	36018273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatttccggcctgccccGcagcatggtgggccccctgg	12	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36018273G>A	ENST00000452271.2	-	1	939	c.911C>T	c.(910-912)gCg>gTg	p.A304V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	177						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCCTGCCCCGCAGCATGGTG	0.652													False	0	True	19:36018273	0	A	36018273	G	A	36018273	3	1	88	1	0	0	0	0	1	0	0	0	13944	1087	38	1	877	1	SBSN	19	36018273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167606	36018273	23110710	18298	26010											
GAPDHS	26330	broad.mit.edu	37	chr19	36029283	36029283	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtggctgtgaatgatcCattcattgacccggaataca	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36029283C>A	ENST00000222286.4	+	3	436	c.320C>A	c.(319-321)cCa>cAa	p.P107Q		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	107					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GTGAATGATCCATTCATTGAC	0.582													False	0	True	19:36029283	0	A	36029283	C	A	36029283	3	1	88	1	0	0	0	0	1	0	0	0	6280	594	21	3	330	3	GAPDHS	19	36029283	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11010	36029283	23099700	18299	26011											
GAPDHS	26330	broad.mit.edu	37	chr19	36033285	36033285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggtggagtccacaggcGtgtacctctccatacaggca	12	12	1	0	rs147678774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36033285G>A	ENST00000222286.4	+	5	630	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	172					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GTCCACAGGCGTGTACCTCTC	0.632													False	0	False	19:36033285	0	A	36033285	G	A	36033285	3	1	88	1	0	0	0	0	1	0	0	0	6280	1145	40	1	532	1	GAPDHS	19	36033285	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4002	36033285	23095698	18300	26012											
TMEM147	10430	broad.mit.edu	37	chr19	36037431	36037431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttctgttctcagatgCtgttcttggccactttcttt	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36037431C>T	ENST00000392204.2	+	2	332	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	TMEM147_ENST00000222284.5_Silent_p.L51L|TMEM147_ENST00000392205.1_Silent_p.L51L	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	51						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCTCAGATGCTGTTCTTGGC	0.537													False	0	False	19:36037431	0	T	36037431	C	T	36037431	2	4	88	1	0	0	0	0	0	0	0	1	16143	796	28	2		2	TMEM147	19	36037431	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4146	36037431	23091552	18301	26013											
ATP4A	495	broad.mit.edu	37	chr19	36046143	36046143	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctgcatttttggcagcatCtgagccagcgatgcccatgg	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36046143C>T	ENST00000262623.3	-	15	2279	c.2251G>A	c.(2251-2253)Gat>Aat	p.D751N		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	751					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TTGGCAGCATCTGAGCCAGCG	0.602													False	0	False	19:36046143	0	T	36046143	C	T	36046143	3	4	88	1	0	0	0	0	1	0	0	0	1149	913	32	2	888	2	ATP4A	19	36046143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8712	36046143	23082840	18302	26014											
ATP4A	495	broad.mit.edu	37	chr19	36050049	36050049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccaggttcttgaccacGcagttcttactggccaggcg	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36050049G>A	ENST00000262623.3	-	8	1129	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	367					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.C367C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TCTTGACCACGCAGTTCTTAC	0.617													False	0	False	19:36050049	0	A	36050049	G	A	36050049	2	1	88	1	0	0	0	0	0	0	0	1	1149	1079	38	1		1	ATP4A	19	36050049	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3906	36050049	23078934	18303	26015											
ATP4A	495	broad.mit.edu	37	chr19	36050771	36050771	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccatgaagaagaccatgGcccgcaggaaggtgtagcca	14	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36050771G>T	ENST00000262623.3	-	7	1020	c.992C>A	c.(991-993)gCc>gAc	p.A331D		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	331					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GAAGACCATGGCCCGCAGGAA	0.587													False	0	True	19:36050771	0	T	36050771	G	T	36050771	3	4	88	1	0	0	0	0	1	0	0	0	1149	1203	42	3	2179	3	ATP4A	19	36050771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	722	36050771	23078212	18304	26016											
ATP4A	495	broad.mit.edu	37	chr19	36053540	36053540	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggctcgcagagaggcCctgggacagaggggcagggc	19	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36053540C>T	ENST00000262623.3	-	4	245	c.217G>A	c.(217-219)Ggc>Agc	p.G73S		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	73					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCAGAGAGGCCCTGGGACAGA	0.672													False	0	True	19:36053540	0	T	36053540	C	T	36053540	5	4	88	1	0	0	0	0	0	0	1	0	1149	637	22	2	2966	2	ATP4A	19	36053540	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2769	36053540	23075443	18305	26017											
ATP4A	495	broad.mit.edu	37	chr19	36054427	36054427	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accgagtagagctcatagttCtcctgggaatggacaggatg	13	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36054427C>T	ENST00000262623.3	-	2	43	c.15G>A	c.(13-15)gaG>gaA	p.E5E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	5					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCTCATAGTTCTCCTGGGAAT	0.637													False	0	False	19:36054427	0	T	36054427	C	T	36054427	2	4	88	1	0	0	0	0	0	0	0	1	1149	912	32	2		2	ATP4A	19	36054427	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	887	36054427	23074556	18306	26018											
HAUS5	23354	broad.mit.edu	37	chr19	36106154	36106154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatggagcaggcacgtcaGcacactcaagacacccagcg	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36106154G>T	ENST00000203166.5	+	6	376	c.351G>T	c.(349-351)caG>caT	p.Q117H	HAUS5_ENST00000379045.2_Missense_Mutation_p.Q117H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	117					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGGCACGTCAGCACACTCAAG	0.647													False	0	False	19:36106154	0	T	36106154	G	T	36106154	3	4	88	1	0	0	0	0	1	0	0	0	7016	962	34	3	373	3	HAUS5	19	36106154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51727	36106154	23022829	18307	26019											
HAUS5	23354	broad.mit.edu	37	chr19	36109545	36109545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcggcaagtcttgacccaGcgcctccagggcctggtgga	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36109545G>A	ENST00000203166.5	+	12	985	c.960G>A	c.(958-960)caG>caA	p.Q320Q	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	320					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TCTTGACCCAGCGCCTCCAGG	0.647													False	0	False	19:36109545	0	A	36109545	G	A	36109545	2	1	88	1	0	0	0	0	0	0	0	1	7016	962	34	2		2	HAUS5	19	36109545	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3391	36109545	23019438	18308	26020											
HAUS5	23354	broad.mit.edu	37	chr19	36109792	36109792	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccacttgccctgcaggcaGgtgctgatactggggcttcg	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36109792G>T	ENST00000203166.5	+	13	1045	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	340					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCTGCAGGCAGGTGCTGATAC	0.617													False	0	True	19:36109792	0	T	36109792	G	T	36109792	3	4	88	1	0	0	0	0	1	0	0	0	7016	991	35	3	1070	3	HAUS5	19	36109792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247	36109792	23019191	18309	26021											
HAUS5	23354	broad.mit.edu	37	chr19	36113851	36113851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccccagtggcggctgCgctgggttcaggcccagggg	17	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36113851C>T	ENST00000203166.5	+	19	1883	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	620					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GTGGCGGCTGCGCTGGGTTCA	0.657													False	0	False	19:36113851	0	T	36113851	C	T	36113851	3	4	88	1	0	0	0	0	1	0	0	0	7016	768	27	1	1932	1	HAUS5	19	36113851	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4059	36113851	23015132	18310	26022											
RBM42	79171	broad.mit.edu	37	chr19	36128403	36128403	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatgtggaaggaccggaatCtggacgtggtccgcaagaag	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36128403C>A	ENST00000262633.4	+	10	1495	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	RBM42_ENST00000592202.1_Missense_Mutation_p.L410M|RBM42_ENST00000589871.1_Missense_Mutation_p.L442M|RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000360475.4_Missense_Mutation_p.L435M|RBM42_ENST00000588161.1_Missense_Mutation_p.L434M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	464	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGACCGGAATCTGGACGTGGT	0.617													False	0	False	19:36128403	0	A	36128403	C	A	36128403	3	1	88	1	0	0	0	0	1	0	0	0	13215	912	32	3	1428	3	RBM42	19	36128403	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14552	36128403	23000580	18311	26023											
ETV2	2116	broad.mit.edu	37	chr19	36134268	36134268	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgcctcgcagaccctgGgccccgcccctctcggcccg	13	22	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36134268G>T	ENST00000379026.2	+	4	851	c.412G>T	c.(412-414)Ggc>Tgc	p.G138C	ETV2_ENST00000479824.1_Missense_Mutation_p.G17C|ETV2_ENST00000402764.2_Missense_Mutation_p.G110C|ETV2_ENST00000379023.4_Intron|ETV2_ENST00000403402.1_Missense_Mutation_p.G110C			B9EIN1	B9EIN1_HUMAN	ets variant 2	110							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGACCCTGGGCCCCGCCCC	0.741													False	0	True	19:36134268	0	T	36134268	G	T	36134268	3	4	88	1	0	0	0	0	1	0	0	0	5310	1232	43	3	342	3	ETV2	19	36134268	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5865	36134268	22994715	18312	26024											
UPK1A	11045	broad.mit.edu	37	chr19	36166803	36166803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacgtcagccttccgggCggccactccggaggtggtgt	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36166803C>T	ENST00000222275.2	+	5	530	c.530C>T	c.(529-531)gCg>gTg	p.A177V	UPK1A_ENST00000379013.2_Missense_Mutation_p.A177V	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	177					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCTTCCGGGCGGCCACTCCG	0.642													False	0	True	19:36166803	0	T	36166803	C	T	36166803	3	4	88	1	0	0	0	0	1	0	0	0	17091	768	27	1	548	1	UPK1A	19	36166803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32535	36166803	22962180	18313	26025											
UPK1A	11045	broad.mit.edu	37	chr19	36168745	36168745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacatcggccacgccatcgAcagctacacgtggggtatct	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36168745A>G	ENST00000222275.2	+	6	680	c.680A>G	c.(679-681)gAc>gGc	p.D227G	UPK1A_ENST00000379013.2_Missense_Mutation_p.T260A	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	227					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACGCCATCGACAGCTACACG	0.642													False	0	False	19:36168745	0	G	36168745	A	G	36168745	3	3	88	1	0	0	0	0	1	0	0	0	17091	275	10	4	702	4	UPK1A	19	36168745	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1942	36168745	22960238	18314	26026											
ZBTB32	27033	broad.mit.edu	37	chr19	36205967	36205967	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagaactgggggaccctggaGagaagcagaaaccagaacag	15	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36205967G>T	ENST00000392197.2	+	3	757	c.439G>T	c.(439-441)Gag>Tag	p.E147*	ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.E147*			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	147					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGACCCTGGAGAGAAGCAGAA	0.547													False	0	True	19:36205967	0	T	36205967	G	T	36205967	4	4	88	1	0	0	0	0	0	1	0	0	17618	943	33	3	441	3	ZBTB32	19	36205967	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37222	36205967	22923016	18315	26027											
LIN37	55957	broad.mit.edu	37	chr19	36245052	36245052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgcagggcacccctgaCgatgaggtgagtatgccagg	16	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36245052C>T	ENST00000301159.9	+	7	943	c.579C>T	c.(577-579)gaC>gaT	p.D193D	AC002398.9_ENST00000591613.2_3'UTR	NM_019104.2	NP_061977	Q96GY3	LIN37_HUMAN	lin-37 homolog (C. elegans)	193	Pro-rich.						protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCACCCCTGACGATGAGGTGA	0.642													False	0	False	19:36245052	0	T	36245052	C	T	36245052	2	4	88	1	0	0	0	0	0	0	0	1	8860	535	19	1		1	LIN37	19	36245052	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39085	36245052	22883931	18316	26028											
C19orf55	148137	broad.mit.edu	37	chr19	36253018	36253018	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggtggctgcagtctgactCtccagaccccagcagtcaaa	10	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36253018C>A	ENST00000544099.1	+	4	473	c.410C>A	c.(409-411)tCt>tAt	p.S137Y	C19orf55_ENST00000396908.4_Missense_Mutation_p.S137Y|C19orf55_ENST00000536950.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000537459.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000421853.2_Missense_Mutation_p.S37Y			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	137										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGTCTGACTCTCCAGACCCC	0.582													False	0	False	19:36253018	0	A	36253018	C	A	36253018	3	1	88	1	0	0	0	0	1	0	0	0	1952	913	32	3	424	3	C19orf55	19	36253018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7966	36253018	22875965	18317	26029											
ARHGAP33	115703	broad.mit.edu	37	chr19	36278174	36278174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacgcctcatggccctgGccctggctgagcgggctcag	14	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36278174G>A	ENST00000007510.4	+	21	2851	c.2707G>A	c.(2707-2709)Gcc>Acc	p.A903T	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A767T|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A742T			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	903					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CATGGCCCTGGCCCTGGCTGA	0.692													False	0	True	19:36278174	0	A	36278174	G	A	36278174	3	1	88	1	0	0	0	0	1	0	0	0	884	1203	42	2	2789	2	ARHGAP33	19	36278174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25156	36278174	22850809	18318	26030											
NPHS1	4868	broad.mit.edu	37	chr19	36332624	36332624	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcccctccatactgatgctGacaagttgaatgttggtttg	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36332624G>A	ENST00000378910.5	-	20	2807	c.2808C>T	c.(2806-2808)gtC>gtT	p.V936V	NPHS1_ENST00000353632.6_Silent_p.V936V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	936	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACTGATGCTGACAAGTTGAA	0.572													False	0	False	19:36332624	0	A	36332624	G	A	36332624	2	1	88	1	0	0	0	0	0	0	0	1	10650	1277	45	2		2	NPHS1	19	36332624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54450	36332624	22796359	18319	26031											
NPHS1	4868	broad.mit.edu	37	chr19	36339215	36339215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaaggcttcactgaaggCctcacatgtgagggtcagac	14	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36339215C>T	ENST00000378910.5	-	10	1254	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	NPHS1_ENST00000353632.6_Missense_Mutation_p.A419T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	419	Ig-like C2-type 4.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACTGAAGGCCTCACATGTG	0.592													False	0	False	19:36339215	0	T	36339215	C	T	36339215	3	4	88	1	0	0	0	0	1	0	0	0	10650	739	26	2	2550	2	NPHS1	19	36339215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6591	36339215	22789768	18320	26032											
NPHS1	4868	broad.mit.edu	37	chr19	36339963	36339963	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctgcgctccatggtcTtctggcctcacggtcatcac	10	15	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36339963T>G	ENST00000378910.5	-	8	926	c.927A>C	c.(925-927)gaA>gaC	p.E309D	NPHS1_ENST00000353632.6_Missense_Mutation_p.E309D	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	309	Ig-like C2-type 3.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCATGGTCTTCTGGCCTCA	0.657													False	0	False	19:36339963	0	G	36339963	T	G	36339963	3	3	88	1	0	0	0	0	1	0	0	0	10650	1606	56	4	2886	4	NPHS1	19	36339963	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	748	36339963	22789020	18321	26033											
NPHS1	4868	broad.mit.edu	37	chr19	36340237	36340237	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccctcatccaggcctggCcactcgatgacagggggtcc	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36340237C>T	ENST00000378910.5	-	7	740	c.741G>A	c.(739-741)tgG>tgA	p.W247*	NPHS1_ENST00000353632.6_Nonsense_Mutation_p.W247*	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	247	Ig-like C2-type 3.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGCCTGGCCACTCGATGA	0.637													False	0	False	19:36340237	0	T	36340237	C	T	36340237	4	4	88	1	0	0	0	0	0	1	0	0	10650	740	26	2	3076	2	NPHS1	19	36340237	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274	36340237	22788746	18322	26034											
KIRREL2	84063	broad.mit.edu	37	chr19	36348369	36348369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggactaagagtgggctgGccctagggggccaaagggac	18	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36348369G>A	ENST00000360202.5	+	2	382	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.A62T|KIRREL2_ENST00000262625.7_Missense_Mutation_p.A62T	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	62	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGTGGGCTGGCCCTAGGGGG	0.647													False	0	True	19:36348369	0	A	36348369	G	A	36348369	3	1	88	1	0	0	0	0	1	0	0	0	8375	1203	42	2	190	2	KIRREL2	19	36348369	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8132	36348369	22780614	18323	26035											
KIRREL2	84063	broad.mit.edu	37	chr19	36349719	36349719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgccctacccctgaattgCtgtggttccgagatggggtc	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36349719C>T	ENST00000360202.5	+	4	673	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	KIRREL2_ENST00000347900.6_Silent_p.L109L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.L159L|KIRREL2_ENST00000262625.7_Silent_p.L159L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	159	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTGAATTGCTGTGGTTCCG	0.597													False	0	False	19:36349719	0	T	36349719	C	T	36349719	2	4	88	1	0	0	0	0	0	0	0	1	8375	796	28	2		2	KIRREL2	19	36349719	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1350	36349719	22779264	18324	26036											
KIRREL2	84063	broad.mit.edu	37	chr19	36351456	36351456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccggtgctcggggcccGcgggccaaggttagaggtcg	17	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36351456G>A	ENST00000360202.5	+	7	1013	c.815G>A	c.(814-816)cGc>cAc	p.R272H	KIRREL2_ENST00000347900.6_Missense_Mutation_p.R222H|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R272H|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R272H	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	272	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCGGGGCCCGCGGGCCAAGG	0.652													False	0	True	19:36351456	0	A	36351456	G	A	36351456	3	1	88	1	0	0	0	0	1	0	0	0	8375	1087	38	1	841	1	KIRREL2	19	36351456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1737	36351456	22777527	18325	26037											
KIRREL2	84063	broad.mit.edu	37	chr19	36355551	36355551	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaagttccctaccccaggGccccattgtgcacactgacc	7	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36355551G>A	ENST00000360202.5	+	14	1925	c.1727G>A	c.(1726-1728)gGc>gAc	p.G576D	KIRREL2_ENST00000347900.6_Splice_Site_p.G526D|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Splice_Site_p.G541D|KIRREL2_ENST00000262625.7_Splice_Site_p.G576D	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	576					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTACCCCAGGGCCCCATTGTG	0.597													False	0	True	19:36355551	0	A	36355551	G	A	36355551	5	1	88	1	0	0	0	0	0	0	1	0	8375	1217	42	2	1781	2	KIRREL2	19	36355551	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4095	36355551	22773432	18326	26038											
APLP1	333	broad.mit.edu	37	chr19	36360568	36360568	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctttccacttccatccaGgccccggggtcggcccaggt	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36360568G>T	ENST00000586861.1	+	1	194	c.129G>T	c.(127-129)caG>caT	p.Q43H	APLP1_ENST00000537454.2_Splice_Site|APLP1_ENST00000221891.4_Splice_Site			P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	49					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTTCCATCCAGGCCCCGGGGT	0.692													False	0	True	19:36360568	0	T	36360568	G	T	36360568	3	4	88	1	0	0	0	0	1	0	0	0	780	1014	35	3	153	3	APLP1	19	36360568	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5017	36360568	22768415	18327	26039											
APLP1	333	broad.mit.edu	37	chr19	36362206	36362206	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgcaccaggagcgcatGgaccaatgtgagagttcaac	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36362206G>T	ENST00000221891.4	+	4	684	c.492G>T	c.(490-492)atG>atT	p.M164I	APLP1_ENST00000586861.1_Missense_Mutation_p.M158I|APLP1_ENST00000537454.2_Missense_Mutation_p.M125I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	164	Copper-binding (By similarity).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGAGCGCATGGACCAATGTG	0.627													False	0	False	19:36362206	0	T	36362206	G	T	36362206	3	4	88	1	0	0	0	0	1	0	0	0	780	1348	47	3	506	3	APLP1	19	36362206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1638	36362206	22766777	18328	26040											
APLP1	333	broad.mit.edu	37	chr19	36363452	36363452	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcctggggaaatcagtgaGcacgaggggttcctgagggc	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36363452G>T	ENST00000221891.4	+	7	1110	c.918G>T	c.(916-918)gaG>gaT	p.E306D	APLP1_ENST00000586861.1_Missense_Mutation_p.E300D|APLP1_ENST00000537454.2_Missense_Mutation_p.E267D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	306					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAATCAGTGAGCACGAGGGGT	0.577													False	0	False	19:36363452	0	T	36363452	G	T	36363452	3	4	88	1	0	0	0	0	1	0	0	0	780	962	34	3	944	3	APLP1	19	36363452	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1246	36363452	22765531	18329	26041											
NFKBID	84807	broad.mit.edu	37	chr19	36387361	36387361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtccctgatggtcagcgGcattgggctctgctcccagg	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36387361G>A	ENST00000396901.1	-	7	911	c.338C>T	c.(337-339)gCc>gTc	p.A113V	NFKBID_ENST00000606253.1_Missense_Mutation_p.A113V|NFKBID_ENST00000352614.2_Missense_Mutation_p.A265V	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	113					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						ATGGTCAGCGGCATTGGGCTC	0.627													False	0	False	19:36387361	0	A	36387361	G	A	36387361	3	1	88	1	0	0	0	0	1	0	0	0	10447	1203	42	2	627	2	NFKBID	19	36387361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23909	36387361	22741622	18330	26042											
LRFN3	79414	broad.mit.edu	37	chr19	36435681	36435681	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcggcgtcatcgtagcCtcggtactggtcttcatctt	12	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36435681C>A	ENST00000588831.1	+	4	2701	c.1647C>A	c.(1645-1647)gcC>gcA	p.A549A	LRFN3_ENST00000246529.3_Silent_p.A549A			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	549					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCATCGTAGCCTCGGTACTGG	0.667													False	0	False	19:36435681	0	A	36435681	C	A	36435681	2	1	88	1	0	0	0	0	0	0	0	1	9001	668	24	3		3	LRFN3	19	36435681	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48320	36435681	22693302	18331	26043											
ALKBH6	84964	broad.mit.edu	37	chr19	36501912	36501912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagccatgggggcagccGctcaggaaccatccctcggg	15	14	1	0	rs149341422		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36501912G>A	ENST00000486389.1	-	4	899	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	ALKBH6_ENST00000252984.7_Missense_Mutation_p.R74W|ALKBH6_ENST00000485128.1_Missense_Mutation_p.R74W|ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000378875.3_Missense_Mutation_p.R102W|AC002116.8_ENST00000473572.2_RNA			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	74						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGGCAGCCGCTCAGGAACC	0.597													False	0	False	19:36501912	0	A	36501912	G	A	36501912	3	1	88	1	0	0	0	0	1	0	0	0	531	1086	38	1	508	1	ALKBH6	19	36501912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66231	36501912	22627071	18332	26044											
CLIP3	25999	broad.mit.edu	37	chr19	36507083	36507083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgcatctccgccctcaGcatccaggggaaccagcagc	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36507083G>A	ENST00000360535.4	-	14	1848	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.L541L	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	541	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCGCCCTCAGCATCCAGGGG	0.607													False	0	False	19:36507083	0	A	36507083	G	A	36507083	2	1	88	1	0	0	0	0	0	0	0	1	3557	962	34	2		2	CLIP3	19	36507083	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5171	36507083	22621900	18333	26045											
CLIP3	25999	broad.mit.edu	37	chr19	36508882	36508882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagatggggatgatggggTcttcttcttgcctaagggta	15	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36508882T>C	ENST00000360535.4	-	10	1422	c.1195A>G	c.(1195-1197)Acc>Gcc	p.T399A	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.T399A	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	399					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GATGATGGGGTCTTCTTCTTG	0.597													False	0	True	19:36508882	0	C	36508882	T	C	36508882	3	2	88	1	0	0	0	0	1	0	0	0	3557	1667	58	4	468	4	CLIP3	19	36508882	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1799	36508882	22620101	18334	26046											
CLIP3	25999	broad.mit.edu	37	chr19	36517067	36517067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctcagcgcagggttggcGccgtgctccagcaaacattt	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517067G>A	ENST00000360535.4	-	6	890	c.663C>T	c.(661-663)ggC>ggT	p.G221G	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.G221G	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	221					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	p.G221G(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGGGTTGGCGCCGTGCTCCA	0.637													False	0	False	19:36517067	0	A	36517067	G	A	36517067	2	1	88	1	0	0	0	0	0	0	0	1	3557	1074	38	1		1	CLIP3	19	36517067	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8185	36517067	22611916	18335	26047											
CLIP3	25999	broad.mit.edu	37	chr19	36517490	36517490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggctctcctcctcacctCgcggcctcgcacccttcagc	8	21	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517490C>T	ENST00000360535.4	-	5	787	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R187Q	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	187					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCCTCACCTCGCGGCCTCGC	0.667													False	0	False	19:36517490	0	T	36517490	C	T	36517490	3	4	88	1	0	0	0	0	1	0	0	0	3557	884	31	1	1123	1	CLIP3	19	36517490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423	36517490	22611493	18336	26048											
CLIP3	25999	broad.mit.edu	37	chr19	36517509	36517509	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgcggcctcgcacccttcaGcagcacacgcacgaggtcgg	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517509G>T	ENST00000360535.4	-	5	768	c.541C>A	c.(541-543)Ctg>Atg	p.L181M	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.L181M	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	181					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCACCCTTCAGCAGCACACGC	0.677													False	0	False	19:36517509	0	T	36517509	G	T	36517509	3	4	88	1	0	0	0	0	1	0	0	0	3557	962	34	3	1142	3	CLIP3	19	36517509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	36517509	22611474	18337	26049											
WDR62	284403	broad.mit.edu	37	chr19	36590347	36590347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggccttccacgccaagcGcagctaccagccccacggcc	9	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36590347G>A	ENST00000401500.2	+	22	2602	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	WDR62_ENST00000270301.7_Missense_Mutation_p.R856H	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	856					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACGCCAAGCGCAGCTACCAG	0.622													False	0	False	19:36590347	0	A	36590347	G	A	36590347	3	1	88	1	0	0	0	0	1	0	0	0	17397	1087	38	1	2653	1	WDR62	19	36590347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72838	36590347	22538636	18338	26050											
CAPNS1	826	broad.mit.edu	37	chr19	36636953	36636953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggtgcctttgaggcaGcaggtatggctggcagggac	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36636953G>A	ENST00000246533.3	+	8	1199	c.601G>A	c.(601-603)Gca>Aca	p.A201T	AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Missense_Mutation_p.A201T|CAPNS1_ENST00000588780.1_Missense_Mutation_p.A211T|CAPNS1_ENST00000590874.1_Missense_Mutation_p.A171T|CAPNS1_ENST00000589146.1_Missense_Mutation_p.A27T|CAPNS1_ENST00000588815.1_Missense_Mutation_p.A201T	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	201	EF-hand 3.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTTGAGGCAGCAGGTATGGC	0.572													False	0	False	19:36636953	0	A	36636953	G	A	36636953	3	1	88	1	0	0	0	0	1	0	0	0	2653	971	34	2	627	2	CAPNS1	19	36636953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46606	36636953	22492030	18339	26051											
ZNF565	147929	broad.mit.edu	37	chr19	36673443	36673443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccacactctctacattcGtaaggtttgataccaggatg	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36673443G>A	ENST00000355114.5	-	5	2271	c.1545C>T	c.(1543-1545)taC>taT	p.Y515Y	ZNF565_ENST00000392173.2_Silent_p.Y475Y|ZNF565_ENST00000304116.5_Silent_p.Y475Y			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CTCTACATTCGTAAGGTTTGA	0.418													False	0	False	19:36673443	0	A	36673443	G	A	36673443	2	1	88	1	0	0	0	0	0	0	0	1	18079	1140	40	1		1	ZNF565	19	36673443	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36490	36673443	22455540	18340	26052											
ZFP14	57677	broad.mit.edu	37	chr19	36831798	36831798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattccttacattcatagagCttttcagcagtatgaagtct	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36831798C>A	ENST00000270001.7	-	5	1045	c.930G>T	c.(928-930)aaG>aaT	p.K310N		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ATTCATAGAGCTTTTCAGCAG	0.418													False	0	True	19:36831798	0	A	36831798	C	A	36831798	3	1	88	1	0	0	0	0	1	0	0	0	17722	796	28	3	675	3	ZFP14	19	36831798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158355	36831798	22297185	18341	26053											
ZFP82	284406	broad.mit.edu	37	chr19	36884325	36884325	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcattcatagagcctgtcaGcactattaagcttctgatgc	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36884325G>T	ENST00000392161.3	-	5	1159	c.917C>A	c.(916-918)gCt>gAt	p.A306D	ZFP82_ENST00000392171.1_Missense_Mutation_p.A306D	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGCCTGTCAGCACTATTAAG	0.443													False	0	False	19:36884325	0	T	36884325	G	T	36884325	3	4	88	1	0	0	0	0	1	0	0	0	17736	971	34	3	685	3	ZFP82	19	36884325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52527	36884325	22244658	18342	26054											
ZNF566	84924	broad.mit.edu	37	chr19	36940724	36940724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaataccaattgattgaaatGtcccccctgagagccgagtt	9	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36940724G>A	ENST00000454319.1	-	5	549	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	ZNF566_ENST00000392170.2_Missense_Mutation_p.H139Y|ZNF566_ENST00000493391.1_Missense_Mutation_p.H34Y|ZNF566_ENST00000424129.2_Missense_Mutation_p.H138Y|ZNF566_ENST00000434377.2_Missense_Mutation_p.H138Y	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGATTGAAATGTCCCCCCTGA	0.398													False	0	False	19:36940724	0	A	36940724	G	A	36940724	3	1	88	1	0	0	0	0	1	0	0	0	18080	1377	48	2	848	2	ZNF566	19	36940724	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56399	36940724	22188259	18343	26055											
ZNF260	339324	broad.mit.edu	37	chr19	37005025	37005025	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtgcagagcaagggttgaGaactgagaaaaggctttccc	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37005025G>T	ENST00000523638.1	-	3	2237	c.1116C>A	c.(1114-1116)ttC>ttA	p.F372L	ZNF260_ENST00000593142.1_Missense_Mutation_p.F372L|ZNF260_ENST00000588993.1_Missense_Mutation_p.F372L|ZNF260_ENST00000592282.1_Missense_Mutation_p.F372L	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	372					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CAAGGGTTGAGAACTGAGAAA	0.423													False	0	False	19:37005025	0	T	37005025	G	T	37005025	3	4	88	1	0	0	0	0	1	0	0	0	17885	933	33	3	126	3	ZNF260	19	37005025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64301	37005025	22123958	18344	26056											
ZNF260	339324	broad.mit.edu	37	chr19	37005586	37005586	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagggcttctttccagtatgGatgttctgatgtttaatgag	11	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37005586G>T	ENST00000523638.1	-	3	1676	c.555C>A	c.(553-555)atC>atA	p.I185I	ZNF260_ENST00000593142.1_Silent_p.I185I|ZNF260_ENST00000588993.1_Silent_p.I185I|ZNF260_ENST00000592282.1_Silent_p.I185I	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	185					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TTCCAGTATGGATGTTCTGAT	0.388													False	0	False	19:37005586	0	T	37005586	G	T	37005586	2	4	88	1	0	0	0	0	0	0	0	1	17885	1164	41	3		3	ZNF260	19	37005586	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	561	37005586	22123397	18345	26057											
ZNF382	84911	broad.mit.edu	37	chr19	37117875	37117875	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttgtatcgattgtgggaAgtccttccgccagaaggcca	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37117875A>C	ENST00000435416.1	+	3	2568	c.1073A>C	c.(1072-1074)aAg>aCg	p.K358T	ZNF382_ENST00000439428.1_Missense_Mutation_p.K358T|ZNF382_ENST00000292928.2_Missense_Mutation_p.K359T|ZNF382_ENST00000423582.1_Missense_Mutation_p.K310T			Q96SR6	ZN382_HUMAN	zinc finger protein 382	359	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GATTGTGGGAAGTCCTTCCGC	0.478													False	0	False	19:37117875	0	C	37117875	A	C	37117875	3	2	88	1	0	0	0	0	1	0	0	0	17956	72	3	4	1086	4	ZNF382	19	37117875	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112289	37117875	22011108	18346	26058											
ZNF382	84911	broad.mit.edu	37	chr19	37118220	37118220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgggaagtccttccGccagaaggcaatcctcactg	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37118220G>A	ENST00000435416.1	+	3	2913	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	ZNF382_ENST00000439428.1_Missense_Mutation_p.R473H|ZNF382_ENST00000292928.2_Missense_Mutation_p.R474H|ZNF382_ENST00000423582.1_Missense_Mutation_p.R425H			Q96SR6	ZN382_HUMAN	zinc finger protein 382	474	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGTCCTTCCGCCAGAAGGCA	0.463													False	0	False	19:37118220	0	A	37118220	G	A	37118220	3	1	88	1	0	0	0	0	1	0	0	0	17956	1087	38	1	1431	1	ZNF382	19	37118220	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	345	37118220	22010763	18347	26059											
ZNF382	84911	broad.mit.edu	37	chr19	37118250	37118250	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatcctcactgttcatcacaGaatacatacaggagaaaaat	5	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37118250G>T	ENST00000435416.1	+	3	2943	c.1448G>T	c.(1447-1449)aGa>aTa	p.R483I	ZNF382_ENST00000439428.1_Missense_Mutation_p.R483I|ZNF382_ENST00000292928.2_Missense_Mutation_p.R484I|ZNF382_ENST00000423582.1_Missense_Mutation_p.R435I			Q96SR6	ZN382_HUMAN	zinc finger protein 382	484	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTCATCACAGAATACATACA	0.463													False	0	False	19:37118250	0	T	37118250	G	T	37118250	3	4	88	1	0	0	0	0	1	0	0	0	17956	942	33	3	1461	3	ZNF382	19	37118250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	37118250	22010733	18348	26060											
ZNF567	163081	broad.mit.edu	37	chr19	37211001	37211001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatgtggaaagtccttcCgccagaagacaacccttgta	10	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37211001C>T	ENST00000585696.1	+	3	2512	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	ZNF567_ENST00000392163.2_Missense_Mutation_p.R428C|ZNF567_ENST00000360729.4_Missense_Mutation_p.R428C|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.R459C|ZNF567_ENST00000588311.1_Missense_Mutation_p.R428C			Q8N184	ZN567_HUMAN	zinc finger protein 567	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAGTCCTTCCGCCAGAAGAC	0.433													False	0	False	19:37211001	0	T	37211001	C	T	37211001	3	4	88	1	0	0	0	0	1	0	0	0	18081	652	23	1	1292	1	ZNF567	19	37211001	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92751	37211001	21917982	18349	26061											
ZNF567	163081	broad.mit.edu	37	chr19	37211114	37211114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatacctcattgatcatcaCcgaactcacacaggagagaa	6	12	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37211114C>T	ENST00000585696.1	+	3	2625	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	ZNF567_ENST00000392163.2_Silent_p.H465H|ZNF567_ENST00000360729.4_Silent_p.H465H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Silent_p.H496H|ZNF567_ENST00000588311.1_Silent_p.H465H			Q8N184	ZN567_HUMAN	zinc finger protein 567	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTGATCATCACCGAACTCACA	0.403													False	0	False	19:37211114	0	T	37211114	C	T	37211114	2	4	88	1	0	0	0	0	0	0	0	1	18081	506	18	2		2	ZNF567	19	37211114	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113	37211114	21917869	18350	26062											
ZNF790	388536	broad.mit.edu	37	chr19	37309616	37309616	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagctgtgaaccccagaTaaaagatttcccacattctt	6	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37309616T>A	ENST00000356725.4	-	5	1750	c.1630A>T	c.(1630-1632)Atc>Ttc	p.I544F	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAACCCCAGATAAAAGATTTC	0.393													False	0	True	19:37309616	0	A	37309616	T	A	37309616	3	1	88	1	0	0	0	0	1	0	0	0	18244	1406	49	5	284	5	ZNF790	19	37309616	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	98502	37309616	21819367	18351	26063											
ZNF790	388536	broad.mit.edu	37	chr19	37309951	37309951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaagatacgaagcccaaGtaaaagtcttcccgcattgc	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37309951G>A	ENST00000356725.4	-	5	1415	c.1295C>T	c.(1294-1296)aCt>aTt	p.T432I	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CGAAGCCCAAGTAAAAGTCTT	0.418													False	0	False	19:37309951	0	A	37309951	G	A	37309951	3	1	88	1	0	0	0	0	1	0	0	0	18244	1029	36	2	619	2	ZNF790	19	37309951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	335	37309951	21819032	18352	26064											
ZNF790	388536	broad.mit.edu	37	chr19	37310733	37310733	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttccccagttctttaaaTtcattcagtttgtctcctgt	5	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37310733T>C	ENST00000356725.4	-	5	633	c.513A>G	c.(511-513)gaA>gaG	p.E171E	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTCTTTAAATTCATTCAGTT	0.383													False	0	True	19:37310733	0	C	37310733	T	C	37310733	2	2	88	1	0	0	0	0	0	0	0	1	18244	1490	52	4		4	ZNF790	19	37310733	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	782	37310733	21818250	18353	26065											
ZNF345	25850	broad.mit.edu	37	chr19	37368396	37368396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaccttactcaacatcggCggattcatactggtgagaaa	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368396C>T	ENST00000529555.1	+	2	1452	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R222W|ZNF345_ENST00000420450.1_Missense_Mutation_p.R222W|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	222					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAACATCGGCGGATTCATAC	0.443													False	0	False	19:37368396	0	T	37368396	C	T	37368396	3	4	88	1	0	0	0	0	1	0	0	0	17942	759	27	1	666	1	ZNF345	19	37368396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57663	37368396	21760587	18354	26066											
ZNF345	25850	broad.mit.edu	37	chr19	37368427	37368427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgagaaaccttatgaatGcaaagcatgtggaatggcct	12	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368427G>A	ENST00000529555.1	+	2	1483	c.695G>A	c.(694-696)tGc>tAc	p.C232Y	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000420450.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	232					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTATGAATGCAAAGCATGT	0.418													False	0	False	19:37368427	0	A	37368427	G	A	37368427	3	1	88	1	0	0	0	0	1	0	0	0	17942	1319	46	2	697	2	ZNF345	19	37368427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	37368427	21760556	18355	26067											
ZNF345	25850	broad.mit.edu	37	chr19	37368905	37368905	+	Silent	SNP	C	C	T													cttatccaacaccagctaatCcatactggtgaaagacccta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368905C>T	ENST00000529555.1	+	2	1961	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Silent_p.I391I|ZNF345_ENST00000420450.1_Silent_p.I391I|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	391					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCAGCTAATCCATACTGGTG	0.423													False	0	False	19:37368905	0	T	37368905	C	T	37368905	2	4	88	1	0	0	0	0	0	0	0	1	17942	845	30	2		2	ZNF345	19	37368905	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	478	37368905	21760078	18356	26068	273	2									
ZNF345	25850	broad.mit.edu	37	chr19	37368910	37368910	+	Missense_Mutation	SNP	C	C	A													ccaacaccagctaatccataCtggtgaaagaccctatgaat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368910C>A	ENST00000529555.1	+	2	1966	c.1178C>A	c.(1177-1179)aCt>aAt	p.T393N	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.T393N|ZNF345_ENST00000420450.1_Missense_Mutation_p.T393N|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	393					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTAATCCATACTGGTGAAAGA	0.423													False	0	False	19:37368910	0	A	37368910	C	A	37368910	3	1	88	1	0	0	0	0	1	0	0	0	17942	565	20	3	1180	3	ZNF345	19	37368910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	37368910	21760073	18357	26069	273	2									
ZNF829	374899	broad.mit.edu	37	chr19	37382434	37382434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcgaatgaggtcagagCgactaccaaaagcctttcca	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37382434C>T	ENST00000520965.1	-	6	1568	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	ZNF829_ENST00000391711.3_Missense_Mutation_p.R420H|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGGTCAGAGCGACTACCAAA	0.373													False	0	False	19:37382434	0	T	37382434	C	T	37382434	3	4	88	1	0	0	0	0	1	0	0	0	18264	768	27	1	43	1	ZNF829	19	37382434	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13524	37382434	21746549	18358	26070											
ZNF829	374899	broad.mit.edu	37	chr19	37382697	37382697	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgttgaggcactattaaaGgccttcccacactgcttaca	8	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37382697G>T	ENST00000520965.1	-	6	1305	c.1239C>A	c.(1237-1239)gcC>gcA	p.A413A	ZNF829_ENST00000391711.3_Silent_p.A332A|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTATTAAAGGCCTTCCCAC	0.413													False	0	True	19:37382697	0	T	37382697	G	T	37382697	2	4	88	1	0	0	0	0	0	0	0	1	18264	987	35	3		3	ZNF829	19	37382697	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	37382697	21746286	18359	26071											
ZNF568	374900	broad.mit.edu	37	chr19	37413686	37413686	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtctgaatgacatctcaatCttcagtgatcagcaatagct	8	9	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37413686C>A	ENST00000333987.7	+	3	520	c.14C>A	c.(13-15)tCt>tAt	p.S5Y	ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000427117.1_Missense_Mutation_p.S5Y|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATCTCAATCTTCAGTGATC	0.512													False	0	False	19:37413686	0	A	37413686	C	A	37413686	3	1	88	1	0	0	0	0	1	0	0	0	18082	913	32	3	16	3	ZNF568	19	37413686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30989	37413686	21715297	18360	26072											
ZNF568	374900	broad.mit.edu	37	chr19	37416155	37416155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaggatacaaccaggCctcttgtacgtcttaagcat	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37416155C>T	ENST00000333987.7	+	4	636	c.130C>T	c.(130-132)Cct>Tct	p.P44S	ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000427117.1_Missense_Mutation_p.P44S|ZNF568_ENST00000455427.2_5'UTR	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACAACCAGGCCTCTTGTACG	0.403													False	0	False	19:37416155	0	T	37416155	C	T	37416155	3	4	88	1	0	0	0	0	1	0	0	0	18082	739	26	2	136	2	ZNF568	19	37416155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2469	37416155	21712828	18361	26073											
ZNF568	374900	broad.mit.edu	37	chr19	37427667	37427667	+	Translation_Start_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacagtgacatttaaggAtgtggctgttgaccttaccc	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37427667A>T	ENST00000415168.1	+	0	339				ZNF568_ENST00000427117.1_Missense_Mutation_p.D52V|ZNF568_ENST00000333987.7_Missense_Mutation_p.D52V|ZNF568_ENST00000455427.2_De_novo_Start_OutOfFrame	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTTAAGGATGTGGCTGTT	0.393													False	0	False	19:37427667	0	T	37427667	A	T	37427667	1	4	88	1	0	0	0	0	0	0	0	0	18082	333	12	5		5	ZNF568	19	37427667	Translation_Start_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11512	37427667	21701316	18362	26074											
ZNF568	374900	broad.mit.edu	37	chr19	37440777	37440777	+	Missense_Mutation	SNP	A	A	G													atttgacctcattagacatgAgcgaattcatgctggagaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37440777A>G	ENST00000415168.1	+	5	906	c.530A>G	c.(529-531)gAg>gGg	p.E177G	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.E241G|ZNF568_ENST00000455427.2_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTAGACATGAGCGAATTCAT	0.383													False	0	False	19:37440777	0	G	37440777	A	G	37440777	3	3	88	1	0	0	0	0	1	0	0	0	18082	304	11	4	740	4	ZNF568	19	37440777	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13110	37440777	21688206	18363	26075	274	2									
ZNF568	374900	broad.mit.edu	37	chr19	37440779	37440779	+	Nonsense_Mutation	SNP	C	C	T													ttgacctcattagacatgagCgaattcatgctggagagaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37440779C>T	ENST00000415168.1	+	5	908	c.532C>T	c.(532-534)Cga>Tga	p.R178*	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Nonsense_Mutation_p.R242*|ZNF568_ENST00000455427.2_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGACATGAGCGAATTCATGC	0.378													False	0	False	19:37440779	0	T	37440779	C	T	37440779	4	4	88	1	0	0	0	0	0	1	0	0	18082	760	27	1	742	1	ZNF568	19	37440779	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2	37440779	21688204	18364	26076	274	2									
ZNF568	374900	broad.mit.edu	37	chr19	37441974	37441974	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagaggtcatacaggtgagaGacaccaagtatattaaatga	11	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37441974G>T	ENST00000415168.1	+	5	2103	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.R640I|ZNF568_ENST00000455427.2_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACAGGTGAGAGACACCAAGTA	0.363													False	0	True	19:37441974	0	T	37441974	G	T	37441974	3	4	88	1	0	0	0	0	1	0	0	0	18082	942	33	3	1937	3	ZNF568	19	37441974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1195	37441974	21687009	18365	26077											
ZNF420	147923	broad.mit.edu	37	chr19	37618211	37618211	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaaaatcagaaggaataTttcaggcaagggatgatcat	10	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37618211T>G	ENST00000337995.3	+	5	533	c.318T>G	c.(316-318)taT>taG	p.Y106*	ZNF420_ENST00000304239.7_Nonsense_Mutation_p.Y106*|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAGGAATATTTCAGGCAAG	0.373													False	0	True	19:37618211	0	G	37618211	T	G	37618211	4	3	88	1	0	0	0	0	0	1	0	0	17980	1500	52	4	328	4	ZNF420	19	37618211	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176237	37618211	21510772	18366	26078											
ZNF420	147923	broad.mit.edu	37	chr19	37618753	37618753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtaaagaatgtaggaaggTctttactcagctctcacaac	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37618753T>C	ENST00000337995.3	+	5	1075	c.860T>C	c.(859-861)gTc>gCc	p.V287A	ZNF420_ENST00000304239.7_Missense_Mutation_p.V287A|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAGGAAGGTCTTTACTCAG	0.383													False	0	False	19:37618753	0	C	37618753	T	C	37618753	3	2	88	1	0	0	0	0	1	0	0	0	17980	1667	58	4	870	4	ZNF420	19	37618753	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	542	37618753	21510230	18367	26079											
ZNF585A	199704	broad.mit.edu	37	chr19	37644430	37644430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataagctttctccccaggaTacattttttgaggttgagag	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37644430T>C	ENST00000356958.4	-	5	629	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	ZNF585A_ENST00000392157.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000292841.5_Missense_Mutation_p.Y69C|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.Y69C			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCCCCAGGATACATTTTTTG	0.383													False	0	False	19:37644430	0	C	37644430	T	C	37644430	3	2	88	1	0	0	0	0	1	0	0	0	18100	1406	49	4	1942	4	ZNF585A	19	37644430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25677	37644430	21484553	18368	26080											
ZNF585B	92285	broad.mit.edu	37	chr19	37677451	37677451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgaagaccttcccatattCggtacatatatagggcttca	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37677451C>T	ENST00000532828.2	-	5	1239	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E275K|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCATATTCGGTACATATA	0.398													False	0	False	19:37677451	0	T	37677451	C	T	37677451	3	4	88	1	0	0	0	0	1	0	0	0	18101	893	31	1	1325	1	ZNF585B	19	37677451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33021	37677451	21451532	18369	26081											
ZNF585B	92285	broad.mit.edu	37	chr19	37677675	37677675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctgatgaatcttgagtgtgGacttttgtgtgaacgctttg	12	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37677675G>T	ENST00000532828.2	-	5	1015	c.764C>A	c.(763-765)tCc>tAc	p.S255Y	ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S200Y|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGAGTGTGGACTTTTGTGT	0.428													False	0	False	19:37677675	0	T	37677675	G	T	37677675	3	4	88	1	0	0	0	0	1	0	0	0	18101	1174	41	3	1549	3	ZNF585B	19	37677675	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224	37677675	21451308	18370	26082											
ZNF383	163087	broad.mit.edu	37	chr19	37734149	37734149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatactggtgagaaaccCtatgagtgcaaggaatgtgg	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734149C>T	ENST00000589413.1	+	8	1594	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	ZNF383_ENST00000590503.1_Silent_p.P337P|ZNF383_ENST00000352998.3_Silent_p.P337P			Q8NA42	ZN383_HUMAN	zinc finger protein 383	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGAAACCCTATGAGTGCA	0.418													False	0	True	19:37734149	0	T	37734149	C	T	37734149	2	4	88	1	0	0	0	0	0	0	0	1	17957	668	24	2		2	ZNF383	19	37734149	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56474	37734149	21394834	18371	26083											
ZNF383	163087	broad.mit.edu	37	chr19	37734379	37734379	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaacttttccagcatcagaGaattcatacagatgaaaaac	5	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734379G>T	ENST00000589413.1	+	8	1824	c.1241G>T	c.(1240-1242)aGa>aTa	p.R414I	ZNF383_ENST00000590503.1_Missense_Mutation_p.R414I|ZNF383_ENST00000352998.3_Missense_Mutation_p.R414I			Q8NA42	ZN383_HUMAN	zinc finger protein 383	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGCATCAGAGAATTCATACA	0.393													False	0	False	19:37734379	0	T	37734379	G	T	37734379	3	4	88	1	0	0	0	0	1	0	0	0	17957	942	33	3	1255	3	ZNF383	19	37734379	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230	37734379	21394604	18372	26084											
ZNF383	163087	broad.mit.edu	37	chr19	37734418	37734418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatatgaatgtaatgaatGtggaaaggcctttaataaat	8	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734418G>A	ENST00000589413.1	+	8	1863	c.1280G>A	c.(1279-1281)tGt>tAt	p.C427Y	ZNF383_ENST00000590503.1_Missense_Mutation_p.C427Y|ZNF383_ENST00000352998.3_Missense_Mutation_p.C427Y			Q8NA42	ZN383_HUMAN	zinc finger protein 383	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAATGAATGTGGAAAGGCC	0.378													False	0	True	19:37734418	0	A	37734418	G	A	37734418	3	1	88	1	0	0	0	0	1	0	0	0	17957	1377	48	2	1294	2	ZNF383	19	37734418	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	37734418	21394565	18373	26085											
ZNF527	84503	broad.mit.edu	37	chr19	37880058	37880058	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggaaggcctttagccgTtatgccttccttgttgaaca	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37880058T>G	ENST00000436120.2	+	5	1214	c.1107T>G	c.(1105-1107)cgT>cgG	p.R369R	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTTAGCCGTTATGCCTTCC	0.438													False	0	False	19:37880058	0	G	37880058	T	G	37880058	2	3	88	1	0	0	0	0	0	0	0	1	18051	1712	60	4		4	ZNF527	19	37880058	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	145640	37880058	21248925	18374	26086											
ZNF569	148266	broad.mit.edu	37	chr19	37916864	37916864	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtttggtgaacggataGcctgtcaaagggaagttaca	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37916864G>T	ENST00000316950.6	-	5	701	c.144C>A	c.(142-144)ggC>ggA	p.G48G	ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000589833.1_Splice_Site_p.G72G|ZNF569_ENST00000392149.2_Splice_Site_p.G48G|ZNF569_ENST00000392150.2_Intron	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAACGGATAGCCTGTCAAAG	0.438													False	0	False	19:37916864	0	T	37916864	G	T	37916864	5	4	88	1	0	0	0	0	0	0	1	0	18083	985	34	3	1924	3	ZNF569	19	37916864	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36806	37916864	21212119	18375	26087											
ZNF570	148268	broad.mit.edu	37	chr19	37966858	37966858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggattcttctcaaagaCatctgtacagtaatgtgatg	9	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37966858C>T	ENST00000330173.1	+	3	638	c.109C>T	c.(109-111)Cat>Tat	p.H37Y	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.H93Y	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTCAAAGACATCTGTACAG	0.428													False	0	False	19:37966858	0	T	37966858	C	T	37966858	3	4	88	1	0	0	0	0	1	0	0	0	18085	478	17	2	115	2	ZNF570	19	37966858	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49994	37966858	21162125	18376	26088											
ZNF570	148268	broad.mit.edu	37	chr19	37974942	37974942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctattttgaaaggcaaccaGgtaatcagaaggcgtgtttc	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37974942G>T	ENST00000330173.1	+	5	947	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.G196C	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCAACCAGGTAATCAGAA	0.378													False	0	False	19:37974942	0	T	37974942	G	T	37974942	3	4	88	1	0	0	0	0	1	0	0	0	18085	1000	35	3	432	3	ZNF570	19	37974942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8084	37974942	21154041	18377	26089											
ZNF793	390927	broad.mit.edu	37	chr19	38028164	38028164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctttcacccagaacccgGcacttatgtataaaccagca	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028164G>T	ENST00000445217.1	+	4	639	c.604G>T	c.(604-606)Gca>Tca	p.A202S	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Missense_Mutation_p.A202S|ZNF793_ENST00000542455.1_Missense_Mutation_p.A202S|ZNF793_ENST00000589319.1_Intron			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGAACCCGGCACTTATGTA	0.468													False	0	False	19:38028164	0	T	38028164	G	T	38028164	3	4	88	1	0	0	0	0	1	0	0	0	18247	1203	42	3	618	3	ZNF793	19	38028164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53222	38028164	21100819	18378	26090											
ZNF793	390927	broad.mit.edu	37	chr19	38028553	38028553	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctcaatgtacatcgaaaAatgcacacaggagaaagacc	7	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028553A>C	ENST00000445217.1	+	4	1028	c.993A>C	c.(991-993)aaA>aaC	p.K331N	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Missense_Mutation_p.K331N|ZNF793_ENST00000542455.1_Missense_Mutation_p.K331N|ZNF793_ENST00000589319.1_Intron			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACATCGAAAAATGCACACAG	0.453													False	0	True	19:38028553	0	C	38028553	A	C	38028553	3	2	88	1	0	0	0	0	1	0	0	0	18247	11	1	4	1007	4	ZNF793	19	38028553	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	389	38028553	21100430	18379	26091											
ZNF793	390927	broad.mit.edu	37	chr19	38028593	38028593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtatcgttgcagagaatgtGgaaaatccttcagccagaag	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028593G>A	ENST00000445217.1	+	4	1068	c.1033G>A	c.(1033-1035)Gga>Aga	p.G345R	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Missense_Mutation_p.G345R|ZNF793_ENST00000542455.1_Missense_Mutation_p.G345R|ZNF793_ENST00000589319.1_Intron			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAGAATGTGGAAAATCCTT	0.448													False	0	False	19:38028593	0	A	38028593	G	A	38028593	3	1	88	1	0	0	0	0	1	0	0	0	18247	1349	47	2	1047	2	ZNF793	19	38028593	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40	38028593	21100390	18380	26092											
ZNF540	163255	broad.mit.edu	37	chr19	38103199	38103199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagcttttagtgtatgcGgacaacttacccgtcatcag	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38103199G>A	ENST00000592533.1	+	5	1350	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	ZNF540_ENST00000589117.1_Missense_Mutation_p.G308R|ZNF540_ENST00000316433.4_Missense_Mutation_p.G340R|ZNF540_ENST00000343599.5_Missense_Mutation_p.G340R	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGTGTATGCGGACAACTTAC	0.353													False	0	False	19:38103199	0	A	38103199	G	A	38103199	3	1	88	1	0	0	0	0	1	0	0	0	18058	1117	39	1	1032	1	ZNF540	19	38103199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74606	38103199	21025784	18381	26093											
ZNF607	84775	broad.mit.edu	37	chr19	38189413	38189413	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaatgaacctaaaagacTtcccgcatttgttgcattca	6	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38189413T>G	ENST00000355202.4	-	5	2214	c.1619A>C	c.(1618-1620)aAg>aCg	p.K540T	ZNF607_ENST00000395835.3_Missense_Mutation_p.K539T|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCTAAAAGACTTCCCGCATTT	0.428													False	0	False	19:38189413	0	G	38189413	T	G	38189413	3	3	88	1	0	0	0	0	1	0	0	0	18116	1609	56	4	475	4	ZNF607	19	38189413	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86214	38189413	20939570	18382	26094											
ZNF607	84775	broad.mit.edu	37	chr19	38190380	38190380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtttctcaccataatgaaAtctatgatgtacagtaagtt	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38190380A>G	ENST00000355202.4	-	5	1247	c.652T>C	c.(652-654)Ttt>Ctt	p.F218L	ZNF607_ENST00000395835.3_Missense_Mutation_p.F217L|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCATAATGAAATCTATGATGT	0.423													False	0	True	19:38190380	0	G	38190380	A	G	38190380	3	3	88	1	0	0	0	0	1	0	0	0	18116	101	4	4	1442	4	ZNF607	19	38190380	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	967	38190380	20938603	18383	26095											
ZNF573	126231	broad.mit.edu	37	chr19	38229915	38229915	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatagggtttctcaccagtAtgagttttccgatgttgaat	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38229915A>G	ENST00000339503.4	-	8	1803	c.1302T>C	c.(1300-1302)caT>caC	p.H434H	ZNF573_ENST00000536220.1_Silent_p.H404H|ZNF573_ENST00000392138.1_Silent_p.H405H|ZNF573_ENST00000357309.3_Silent_p.H404H|ZNF573_ENST00000590414.2_Silent_p.H492H	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCTCACCAGTATGAGTTTTCC	0.378													False	0	False	19:38229915	0	G	38229915	A	G	38229915	2	3	88	1	0	0	0	0	0	0	0	1	18088	446	16	4		4	ZNF573	19	38229915	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39535	38229915	20899068	18384	26096											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572967	38572967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacacctcatggggggcggCggcggagccaagggggactc	18	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38572967C>T	ENST00000222345.6	+	3	1271	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	254					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGGGGGCGGCGGCGGAGCCA	0.697													False	0	True	19:38572967	0	T	38572967	C	T	38572967	2	4	88	1	0	0	0	0	0	0	0	1	14412	755	27	1		1	SIPA1L3	19	38572967	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343052	38572967	20556016	18385	26097											
SIPA1L3	23094	broad.mit.edu	37	chr19	38600883	38600883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgctacggaagaggcAcataggaaatgacatcgtga	12	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38600883A>G	ENST00000222345.6	+	8	2659	c.2150A>G	c.(2149-2151)cAc>cGc	p.H717R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	717	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGAAGAGGCACATAGGAAAT	0.597													False	0	False	19:38600883	0	G	38600883	A	G	38600883	3	3	88	1	0	0	0	0	1	0	0	0	14412	159	6	4	2172	4	SIPA1L3	19	38600883	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27916	38600883	20528100	18386	26098											
SIPA1L3	23094	broad.mit.edu	37	chr19	38610136	38610136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaggagtatctcaaggacCtggccgaaaactgtgtctcc	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38610136C>A	ENST00000222345.6	+	9	2991	c.2482C>A	c.(2482-2484)Ctg>Atg	p.L828M		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	828	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTCAAGGACCTGGCCGAAAA	0.557													False	0	False	19:38610136	0	A	38610136	C	A	38610136	3	1	88	1	0	0	0	0	1	0	0	0	14412	680	24	3	2508	3	SIPA1L3	19	38610136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9253	38610136	20518847	18387	26099											
SIPA1L3	23094	broad.mit.edu	37	chr19	38610224	38610224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaagaagaaggaaaagaCaaaagcacgggctggcgctg	13	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38610224C>T	ENST00000222345.6	+	9	3079	c.2570C>T	c.(2569-2571)aCa>aTa	p.T857I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	857					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGGAAAAGACAAAAGCACGG	0.577													False	0	True	19:38610224	0	T	38610224	C	T	38610224	3	4	88	1	0	0	0	0	1	0	0	0	14412	478	17	2	2596	2	SIPA1L3	19	38610224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	38610224	20518759	18388	26100											
DPF1	0	broad.mit.edu	37	chr19	38706892	38706892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgacagtgccgtcgggcgcCttcttggctgcaagacagca	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38706892C>A	ENST00000416611.1	-	9	912	c.789G>T	c.(787-789)aaG>aaT	p.K263N	DPF1_ENST00000355526.4_Missense_Mutation_p.K289N|DPF1_ENST00000412732.1_Missense_Mutation_p.K207N|DPF1_ENST00000456296.1_Missense_Mutation_p.K263N|DPF1_ENST00000414789.1_Missense_Mutation_p.K207N|DPF1_ENST00000420980.2_Missense_Mutation_p.K245N			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	245					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGTCGGGCGCCTTCTTGGCTG	0.627													False	0	False	19:38706892	0	A	38706892	C	A	38706892	3	1	88	1	0	0	0	0	1	0	0	0	4746	680	24	3	423	3	DPF1	19	38706892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96668	38706892	20422091	18389	26101											
DPF1	0	broad.mit.edu	37	chr19	38709239	38709239	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggccctgttcttcctccTgggaatgtcatcctccaagt	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38709239T>G	ENST00000416611.1	-	5	616	c.493A>C	c.(493-495)Agg>Cgg	p.R165R	DPF1_ENST00000355526.4_Silent_p.R191R|DPF1_ENST00000412732.1_Silent_p.R109R|DPF1_ENST00000456296.1_Silent_p.R165R|DPF1_ENST00000414789.1_Silent_p.R109R|DPF1_ENST00000420980.2_Silent_p.R191R			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	191					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTCTTCCTCCTGGGAATGTCA	0.537													False	0	True	19:38709239	0	G	38709239	T	G	38709239	2	3	88	1	0	0	0	0	0	0	0	1	4746	1579	55	4		4	DPF1	19	38709239	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2347	38709239	20419744	18390	26102											
KCNK6	9424	broad.mit.edu	37	chr19	38817849	38817849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggcctggtggccatgGtgctggtgctgcagaccttc	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817849G>T	ENST00000263372.3	+	3	855	c.748G>T	c.(748-750)Gtg>Ttg	p.V250L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	250						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GGTGGCCATGGTGCTGGTGCT	0.632													False	0	True	19:38817849	0	T	38817849	G	T	38817849	3	4	88	1	0	0	0	0	1	0	0	0	8120	1261	44	3	758	3	KCNK6	19	38817849	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108610	38817849	20311134	18391	26103											
KCNK6	9424	broad.mit.edu	37	chr19	38817902	38817902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctccacggcctcacggaGctcatcctgctgccccctcc	8	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817902G>A	ENST00000263372.3	+	3	908	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	267						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GCCTCACGGAGCTCATCCTGC	0.647													False	0	False	19:38817902	0	A	38817902	G	A	38817902	2	1	88	1	0	0	0	0	0	0	0	1	8120	962	34	2		2	KCNK6	19	38817902	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53	38817902	20311081	18392	26104											
KCNK6	9424	broad.mit.edu	37	chr19	38817988	38817988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgggcccccagccggagtCgcaccagcaactctctgcca	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817988C>T	ENST00000263372.3	+	3	994	c.887C>T	c.(886-888)tCg>tTg	p.S296L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	296						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CAGCCGGAGTCGCACCAGCAA	0.667													False	0	False	19:38817988	0	T	38817988	C	T	38817988	3	4	88	1	0	0	0	0	1	0	0	0	8120	893	31	1	897	1	KCNK6	19	38817988	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	38817988	20310995	18393	26105											
CATSPERG	57828	broad.mit.edu	37	chr19	38852347	38852347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggtgatgcgcctgcggaGcctgcccagtccgcagagat	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38852347G>A	ENST00000409235.3	+	17	2055	c.1940G>A	c.(1939-1941)aGc>aAc	p.S647N	CATSPERG_ENST00000410018.1_Missense_Mutation_p.S607N|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	647					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CGCCTGCGGAGCCTGCCCAGT	0.672													False	0	False	19:38852347	0	A	38852347	G	A	38852347	3	1	88	1	0	0	0	0	1	0	0	0	2712	971	34	2	2002	2	CATSPERG	19	38852347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34359	38852347	20276636	18394	26106											
CATSPERG	57828	broad.mit.edu	37	chr19	38855715	38855715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaggtggtgggttcatcCgggctctgcttccaggaaac	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38855715C>T	ENST00000409235.3	+	22	2686	c.2571C>T	c.(2569-2571)tcC>tcT	p.S857S	CATSPERG_ENST00000410018.1_Silent_p.S817S|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	857					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGGGTTCATCCGGGCTCTGCT	0.622													False	0	True	19:38855715	0	T	38855715	C	T	38855715	2	4	88	1	0	0	0	0	0	0	0	1	2712	639	23	1		1	CATSPERG	19	38855715	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3368	38855715	20273268	18395	26107											
CATSPERG	57828	broad.mit.edu	37	chr19	38858390	38858390	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gactacagtgaggacgaaatCtaccgcttcaacagccccct	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38858390C>A	ENST00000409235.3	+	25	3019	c.2904C>A	c.(2902-2904)atC>atA	p.I968I	CATSPERG_ENST00000410018.1_Silent_p.I928I|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	968					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGGACGAAATCTACCGCTTCA	0.592													False	0	False	19:38858390	0	A	38858390	C	A	38858390	2	1	88	1	0	0	0	0	0	0	0	1	2712	903	32	3		3	CATSPERG	19	38858390	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2675	38858390	20270593	18396	26108											
RYR1	6261	broad.mit.edu	37	chr19	38931486	38931486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccgcctgtgcttcctggaGcccactagcaacgcgcaggt	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38931486G>T	ENST00000355481.4	+	2	278	c.147G>T	c.(145-147)gaG>gaT	p.E49D	RYR1_ENST00000359596.3_Missense_Mutation_p.E49D|RYR1_ENST00000360985.3_Missense_Mutation_p.E49D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	49					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTTCCTGGAGCCCACTAGCA	0.642													False	0	True	19:38931486	0	T	38931486	G	T	38931486	3	4	88	1	0	0	0	0	1	0	0	0	13847	962	34	3	153	3	RYR1	19	38931486	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73096	38931486	20197497	18397	26109											
RYR1	6261	broad.mit.edu	37	chr19	38937111	38937111	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttcccttgctcctctccaGgcttcgtgacgggaggtcac	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38937111G>T	ENST00000355481.4	+	8	762		c.e8-1		RYR1_ENST00000359596.3_Splice_Site|RYR1_ENST00000360985.3_Splice_Site	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCCTCTCCAGGCTTCGTGAC	0.602													False	0	False	19:38937111	0	T	38937111	G	T	38937111	5	4	88	1	0	0	0	0	0	0	1	0	13847	1014	35	3	661	3	RYR1	19	38937111	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5625	38937111	20191872	18398	26110											
RYR1	6261	broad.mit.edu	37	chr19	38956988	38956988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctctgccaggccgtgcGcaccctcctgggctacggct	12	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38956988G>A	ENST00000355481.4	+	24	3259	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	RYR1_ENST00000359596.3_Missense_Mutation_p.R1043H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1043H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1043	6 X approximate repeats.|B30.2/SPRY 2.		R -> C (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGGCCGTGCGCACCCTCCTG	0.672													False	0	False	19:38956988	0	A	38956988	G	A	38956988	3	1	88	1	0	0	0	0	1	0	0	0	13847	1087	38	1	3222	1	RYR1	19	38956988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19877	38956988	20171995	18399	26111											
RYR1	6261	broad.mit.edu	37	chr19	38959659	38959659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcccctggcagccgggCgatgtcgttggctgtatgat	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38959659C>T	ENST00000355481.4	+	26	3566	c.3435C>T	c.(3433-3435)ggC>ggT	p.G1145G	RYR1_ENST00000359596.3_Silent_p.G1145G|RYR1_ENST00000360985.3_Silent_p.G1145G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1145	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCAGCCGGGCGATGTCGTTG	0.582													False	0	True	19:38959659	0	T	38959659	C	T	38959659	2	4	88	1	0	0	0	0	0	0	0	1	13847	755	27	1		1	RYR1	19	38959659	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2671	38959659	20169324	18400	26112											
RYR1	6261	broad.mit.edu	37	chr19	38976414	38976414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctgccaggcccactgCgcgcaggctactatgacctc	10	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38976414C>T	ENST00000355481.4	+	34	5250	c.5119C>T	c.(5119-5121)Cgc>Tgc	p.R1707C	RYR1_ENST00000359596.3_Missense_Mutation_p.R1707C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1707C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1707	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGCCCACTGCGCGCAGGCTA	0.652													False	0	True	19:38976414	0	T	38976414	C	T	38976414	3	4	88	1	0	0	0	0	1	0	0	0	13847	768	27	1	5253	1	RYR1	19	38976414	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16755	38976414	20152569	18401	26113											
RYR1	6261	broad.mit.edu	37	chr19	38993325	38993325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcgttcgctcaccaaggCgcagcgtgacgtcatcgagg	15	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38993325C>T	ENST00000355481.4	+	48	7924	c.7793C>T	c.(7792-7794)gCg>gTg	p.A2598V	RYR1_ENST00000359596.3_Missense_Mutation_p.A2598V|RYR1_ENST00000360985.3_Missense_Mutation_p.A2598V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2598	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCACCAAGGCGCAGCGTGAC	0.672													False	0	False	19:38993325	0	T	38993325	C	T	38993325	3	4	88	1	0	0	0	0	1	0	0	0	13847	768	27	1	7983	1	RYR1	19	38993325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16911	38993325	20135658	18402	26114											
RYR1	6261	broad.mit.edu	37	chr19	38996982	38996982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctacaaccctcagccccccGaccttagtgctgttaccctg	7	18	1	0	rs138647599		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38996982G>A	ENST00000355481.4	+	55	8712	c.8581G>A	c.(8581-8583)Gac>Aac	p.D2861N	RYR1_ENST00000359596.3_Missense_Mutation_p.D2861N|RYR1_ENST00000360985.3_Missense_Mutation_p.D2861N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2861	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCAGCCCCCCGACCTTAGTGC	0.607													False	0	True	19:38996982	0	A	38996982	G	A	38996982	3	1	88	1	0	0	0	0	1	0	0	0	13847	1058	37	1	8799	1	RYR1	19	38996982	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3657	38996982	20132001	18403	26115											
RYR1	6261	broad.mit.edu	37	chr19	39008036	39008036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtggaggagatgtgtccCgacatcccggtgctggagcg	17	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39008036C>T	ENST00000355481.4	+	66	9854	c.9723C>T	c.(9721-9723)ccC>ccT	p.P3241P	RYR1_ENST00000359596.3_Silent_p.P3241P|RYR1_ENST00000360985.3_Silent_p.P3241P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3241					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGATGTGTCCCGACATCCCGG	0.647													False	0	True	19:39008036	0	T	39008036	C	T	39008036	2	4	88	1	0	0	0	0	0	0	0	1	13847	639	23	1		1	RYR1	19	39008036	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11054	39008036	20120947	18404	26116											
RYR1	6261	broad.mit.edu	37	chr19	39013945	39013945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacaacaaaagcaaaatggCtaaggtcggggcttggttct	12	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39013945C>A	ENST00000355481.4	+	69	10567	c.10436C>A	c.(10435-10437)gCt>gAt	p.A3479D	RYR1_ENST00000359596.3_Missense_Mutation_p.A3479D|RYR1_ENST00000360985.3_Missense_Mutation_p.A3479D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3479					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCAAAATGGCTAAGGTCGGG	0.567													False	0	False	19:39013945	0	A	39013945	C	A	39013945	3	1	88	1	0	0	0	0	1	0	0	0	13847	797	28	3	10710	3	RYR1	19	39013945	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5909	39013945	20115038	18405	26117											
RYR1	6261	broad.mit.edu	37	chr19	39028579	39028579	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttccgattcctacaattgCtctgtgaggggcacaataat	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39028579C>A	ENST00000355481.4	+	83	11784	c.11653C>A	c.(11653-11655)Ctc>Atc	p.L3885I	RYR1_ENST00000359596.3_Missense_Mutation_p.L3890I|RYR1_ENST00000360985.3_Missense_Mutation_p.L3885I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3890					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTACAATTGCTCTGTGAGGG	0.562													False	0	False	19:39028579	0	A	39028579	C	A	39028579	3	1	88	1	0	0	0	0	1	0	0	0	13847	797	28	3	12002	3	RYR1	19	39028579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14634	39028579	20100404	18406	26118											
RYR1	6261	broad.mit.edu	37	chr19	39038920	39038920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagatggtggacatgctcGtggaatcctcatccaatgtg	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39038920G>A	ENST00000355481.4	+	88	12258	c.12127G>A	c.(12127-12129)Gtg>Atg	p.V4043M	RYR1_ENST00000359596.3_Missense_Mutation_p.V4048M|RYR1_ENST00000360985.3_Missense_Mutation_p.V4043M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4048					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGACATGCTCGTGGAATCCTC	0.567													False	0	False	19:39038920	0	A	39038920	G	A	39038920	3	1	88	1	0	0	0	0	1	0	0	0	13847	1145	40	1	12496	1	RYR1	19	39038920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10341	39038920	20090063	18407	26119											
RYR1	6261	broad.mit.edu	37	chr19	39058490	39058490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcacctccctcaccccCtccaaagaaggaggaagctg	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39058490C>A	ENST00000355481.4	+	92	13708	c.13577C>A	c.(13576-13578)cCt>cAt	p.P4526H	RYR1_ENST00000359596.3_Missense_Mutation_p.P4531H|RYR1_ENST00000360985.3_Missense_Mutation_p.P4526H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4531	Pro-rich.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTCACCCCCTCCAAAGAAG	0.587													False	0	True	19:39058490	0	A	39058490	C	A	39058490	3	1	88	1	0	0	0	0	1	0	0	0	13847	681	24	3	13962	3	RYR1	19	39058490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19570	39058490	20070493	18408	26120											
RYR1	6261	broad.mit.edu	37	chr19	39062895	39062895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctttctctgcatcattggCtataattgtctcaaggtggg	10	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39062895C>T	ENST00000355481.4	+	94	14099	c.13968C>T	c.(13966-13968)ggC>ggT	p.G4656G	RYR1_ENST00000359596.3_Silent_p.G4661G|RYR1_ENST00000360985.3_Silent_p.G4656G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4661					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCATCATTGGCTATAATTGTC	0.597													False	0	False	19:39062895	0	T	39062895	C	T	39062895	2	4	88	1	0	0	0	0	0	0	0	1	13847	784	28	2		2	RYR1	19	39062895	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4405	39062895	20066088	18409	26121											
RYR1	6261	broad.mit.edu	37	chr19	39063833	39063833	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgcccctggtaatctTtaagcgggagaaggagctgg	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39063833T>G	ENST00000355481.4	+	95	14131	c.14000T>G	c.(13999-14001)tTt>tGt	p.F4667C	RYR1_ENST00000359596.3_Missense_Mutation_p.F4672C|RYR1_ENST00000360985.3_Missense_Mutation_p.F4667C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4672					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGGTAATCTTTAAGCGGGAG	0.592													False	0	True	19:39063833	0	G	39063833	T	G	39063833	3	3	88	1	0	0	0	0	1	0	0	0	13847	1841	64	4	14397	4	RYR1	19	39063833	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	938	39063833	20065150	18410	26122											
MAP4K1	11184	broad.mit.edu	37	chr19	39087084	39087084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcctggcccggtcagcaGcgcgaacacggacagaggcg	16	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39087084G>A	ENST00000591517.1	-	26	2012	c.1984C>T	c.(1984-1986)Ctg>Ttg	p.L662L	CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000396857.2_Silent_p.L662L|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589130.1_Silent_p.L658L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	662	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGGTCAGCAGCGCGAACACG	0.726													False	0	False	19:39087084	0	A	39087084	G	A	39087084	2	1	88	1	0	0	0	0	0	0	0	1	9326	962	34	2		2	MAP4K1	19	39087084	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23251	39087084	20041899	18411	26123											
MAP4K1	11184	broad.mit.edu	37	chr19	39087996	39087996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcccggcagcctttggtgtCctggatcttggtggaaacca	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39087996C>T	ENST00000591517.1	-	24	1835	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D603N|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_3'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D599N	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	603	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTTGGTGTCCTGGATCTTG	0.592													False	0	False	19:39087996	0	T	39087996	C	T	39087996	3	4	88	1	0	0	0	0	1	0	0	0	9326	855	30	2	792	2	MAP4K1	19	39087996	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	912	39087996	20040987	18412	26124											
MAP4K1	11184	broad.mit.edu	37	chr19	39090764	39090764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggttcaggatgaagatgcCttcctctgcccccaggagca	11	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39090764C>T	ENST00000591517.1	-	21	1589	c.1561G>A	c.(1561-1563)Ggc>Agc	p.G521S	CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000396857.2_Missense_Mutation_p.G521S|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Missense_Mutation_p.G183S|MAP4K1_ENST00000589130.1_Missense_Mutation_p.G517S	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	521	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATGAAGATGCCTTCCTCTGCC	0.632													False	0	False	19:39090764	0	T	39090764	C	T	39090764	3	4	88	1	0	0	0	0	1	0	0	0	9326	681	24	2	1050	2	MAP4K1	19	39090764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2768	39090764	20038219	18413	26125											
EIF3K	27335	broad.mit.edu	37	chr19	39116677	39116677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcccagcaagaagaaCggccaatccgacagattttg	8	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39116677C>T	ENST00000545173.2	+	4	365	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	EIF3K_ENST00000538434.1_Missense_Mutation_p.R10W|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000588934.1_Missense_Mutation_p.R97W|EIF3K_ENST00000592558.1_Missense_Mutation_p.R97W|EIF3K_ENST00000248342.4_Missense_Mutation_p.R97W|EIF3K_ENST00000593149.1_Missense_Mutation_p.R10W			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K	97					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCAAGAAGAACGGCCAATCCG	0.582													False	0	False	19:39116677	0	T	39116677	C	T	39116677	3	4	88	1	0	0	0	0	1	0	0	0	5053	527	19	1	303	1	EIF3K	19	39116677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25913	39116677	20012306	18414	26126											
CAPN12	147968	broad.mit.edu	37	chr19	39228155	39228155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggagttgaagccacgcacCcagcggccttggaaggtgtg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39228155C>A	ENST00000328867.4	-	9	1397	c.1089G>T	c.(1087-1089)tgG>tgT	p.W363C	CAPN12_ENST00000601953.1_Missense_Mutation_p.W214C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	363	Domain III.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGCCACGCACCCAGCGGCCTT	0.701													False	0	True	19:39228155	0	A	39228155	C	A	39228155	3	1	88	1	0	0	0	0	1	0	0	0	2645	624	22	3	1122	3	CAPN12	19	39228155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111478	39228155	19900828	18415	26127											
CAPN12	147968	broad.mit.edu	37	chr19	39233119	39233119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaccacccggcgcaggagCcggggatacagagtaaggga	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39233119C>T	ENST00000328867.4	-	3	665	c.357G>A	c.(355-357)cgG>cgA	p.R119R	CAPN12_ENST00000601953.1_5'UTR	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	119	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGCGCAGGAGCCGGGGATACA	0.622													False	0	False	19:39233119	0	T	39233119	C	T	39233119	2	4	88	1	0	0	0	0	0	0	0	1	2645	726	26	2		2	CAPN12	19	39233119	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4964	39233119	19895864	18416	26128											
LGALS4	3960	broad.mit.edu	37	chr19	39292481	39292481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaggccgagaggcgatGggcaaagtcaaagaggtgct	17	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39292481G>A	ENST00000307751.4	-	10	1372	c.895C>T	c.(895-897)Cat>Tat	p.H299Y		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	299	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GAGAGGCGATGGGCAAAGTCA	0.547													False	0	True	19:39292481	0	A	39292481	G	A	39292481	3	1	88	1	0	0	0	0	1	0	0	0	8796	1348	47	2	80	2	LGALS4	19	39292481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59362	39292481	19836502	18417	26129											
LGALS4	3960	broad.mit.edu	37	chr19	39292728	39292728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttccggaccacggtaccGttgcccatgcggggattaat	12	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39292728G>A	ENST00000307751.4	-	9	1206	c.729C>T	c.(727-729)aaC>aaT	p.N243N		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	243	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCACGGTACCGTTGCCCATGC	0.552													False	0	False	19:39292728	0	A	39292728	G	A	39292728	2	1	88	1	0	0	0	0	0	0	0	1	8796	1136	40	1		1	LGALS4	19	39292728	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247	39292728	19836255	18418	26130											
LGALS4	3960	broad.mit.edu	37	chr19	39294407	39294407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgttcagctgttgatggCaatgtccgggaccctgaacg	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39294407C>T	ENST00000307751.4	-	6	992	c.515G>A	c.(514-516)tGc>tAc	p.C172Y		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	172					cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTGTTGATGGCAATGTCCGGG	0.607													False	0	False	19:39294407	0	T	39294407	C	T	39294407	3	4	88	1	0	0	0	0	1	0	0	0	8796	710	25	2	476	2	LGALS4	19	39294407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1679	39294407	19834576	18419	26131											
RINL	126432	broad.mit.edu	37	chr19	39360243	39360243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctcatctggatctaagaGctccataagaaactctacgt	7	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39360243G>T	ENST00000340740.3	-	10	1489	c.1102C>A	c.(1102-1104)Ctc>Atc	p.L368I	RINL_ENST00000598904.1_Missense_Mutation_p.L368I|RINL_ENST00000591812.1_Missense_Mutation_p.L482I	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	368	VPS9.						GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGATCTAAGAGCTCCATAAGA	0.632											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:39360243	0	T	39360243	G	T	39360243	3	4	88	1	0	0	0	0	1	0	0	0	13454	971	34	3	268	3	RINL	19	39360243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65836	39360243	19768740	18420	26132											
RINL	126432	broad.mit.edu	37	chr19	39360267	39360267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cataagaaactctacgtccaGctgcgtgtccccaatgtccg	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39360267G>T	ENST00000340740.3	-	10	1465	c.1078C>A	c.(1078-1080)Ctg>Atg	p.L360M	RINL_ENST00000598904.1_Missense_Mutation_p.L360M|RINL_ENST00000591812.1_Missense_Mutation_p.L474M	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	360	VPS9.						GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TCTACGTCCAGCTGCGTGTCC	0.607											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:39360267	0	T	39360267	G	T	39360267	3	4	88	1	0	0	0	0	1	0	0	0	13454	962	34	3	292	3	RINL	19	39360267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	39360267	19768716	18421	26133											
RINL	126432	broad.mit.edu	37	chr19	39361854	39361854	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtcctgttggaccctgccGatctgcacaggatctggagc	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39361854G>A	ENST00000340740.3	-	7	510	c.123C>T	c.(121-123)atC>atT	p.I41I	RINL_ENST00000598904.1_Silent_p.I41I|RINL_ENST00000591812.1_Silent_p.I155I|CTC-360G5.6_ENST00000593830.1_RNA	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	41							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGACCCTGCCGATCTGCACAG	0.597													False	0	False	19:39361854	0	A	39361854	G	A	39361854	2	1	88	1	0	0	0	0	0	0	0	1	13454	1048	37	1		1	RINL	19	39361854	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1587	39361854	19767129	18422	26134											
FBXO17	115290	broad.mit.edu	37	chr19	39437163	39437163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagcagctcctgccacAccccttccatcaccaggtcc	6	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39437163A>G	ENST00000292852.4	-	4	847	c.506T>C	c.(505-507)gTg>gCg	p.V169A	FBXO17_ENST00000595329.1_Missense_Mutation_p.V169A|CTC-360G5.8_ENST00000599996.1_Silent_p.G73G|SARS2_ENST00000448145.2_Missense_Mutation_p.V4A	NM_024907.5	NP_079183.4			F-box protein 17											breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCCTGCCACACCCCTTCCAT	0.617													False	0	True	19:39437163	0	G	39437163	A	G	39437163	3	3	88	1	0	0	0	0	1	0	0	0	5770	159	6	4	342	4	FBXO17	19	39437163	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75309	39437163	19691820	18423	26135											
FBXO27	126433	broad.mit.edu	37	chr19	39516062	39516062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctggactaggacagacGgactcgcacgatcacactgg	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39516062G>A	ENST00000292853.4	-	6	960	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	FBXO27_ENST00000600828.1_Missense_Mutation_p.R280C|FBXO27_ENST00000509137.2_Missense_Mutation_p.R281C	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	281					protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TAGGACAGACGGACTCGCACG	0.587													False	0	False	19:39516062	0	A	39516062	G	A	39516062	3	1	88	1	0	0	0	0	1	0	0	0	5777	1116	39	1	14	1	FBXO27	19	39516062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78899	39516062	19612921	18424	26136											
FBXO27	126433	broad.mit.edu	37	chr19	39517624	39517624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtctgtacatacagccGctgtcgtgtcgggctcccca	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39517624G>A	ENST00000292853.4	-	5	713	c.594C>T	c.(592-594)agC>agT	p.S198S	FBXO27_ENST00000600828.1_Silent_p.S197S|FBXO27_ENST00000509137.2_Silent_p.S198S	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	198	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACATACAGCCGCTGTCGTGTC	0.562													False	0	False	19:39517624	0	A	39517624	G	A	39517624	2	1	88	1	0	0	0	0	0	0	0	1	5777	1078	38	1		1	FBXO27	19	39517624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1562	39517624	19611359	18425	26137											
PAK4	0	broad.mit.edu	37	chr19	39667298	39667298	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccgaaggaagtcgctggtCggcacgccctactggatggc	14	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39667298C>T	ENST00000599386.1	+	7	1150	c.969C>T	c.(967-969)gtC>gtT	p.V323V	PAK4_ENST00000593690.1_Silent_p.V476V|PAK4_ENST00000435673.2_Silent_p.V476V|PAK4_ENST00000599470.1_Silent_p.V323V|PAK4_ENST00000360442.3_Silent_p.V476V|PAK4_ENST00000321944.4_Silent_p.V386V|PAK4_ENST00000358301.3_Silent_p.V476V	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	476	GEF-interaction domain (GID).|Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AGTCGCTGGTCGGCACGCCCT	0.657													False	0	False	19:39667298	0	T	39667298	C	T	39667298	2	4	88	1	0	0	0	0	0	0	0	1	11471	871	31	1		1	PAK4	19	39667298	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149674	39667298	19461685	18426	26138											
PAK4	0	broad.mit.edu	37	chr19	39667313	39667313	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggtcggcacgccctactgGatggccccagagctcatctc	11	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39667313G>A	ENST00000599386.1	+	7	1165	c.984G>A	c.(982-984)tgG>tgA	p.W328*	PAK4_ENST00000593690.1_Nonsense_Mutation_p.W481*|PAK4_ENST00000435673.2_Nonsense_Mutation_p.W481*|PAK4_ENST00000599470.1_Nonsense_Mutation_p.W328*|PAK4_ENST00000360442.3_Nonsense_Mutation_p.W481*|PAK4_ENST00000321944.4_Nonsense_Mutation_p.W391*|PAK4_ENST00000358301.3_Nonsense_Mutation_p.W481*	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	481	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CGCCCTACTGGATGGCCCCAG	0.647													False	0	False	19:39667313	0	A	39667313	G	A	39667313	4	1	88	1	0	0	0	0	0	1	0	0	11471	1183	41	2	1465	2	PAK4	19	39667313	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	39667313	19461670	18427	26139											
LRFN1	57622	broad.mit.edu	37	chr19	39798496	39798496	+	Missense_Mutation	SNP	G	G	A													aatagcgctgctgcggcctcGgccgggccgcggctccccca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39798496G>A	ENST00000248668.4	-	2	2092	c.2093C>T	c.(2092-2094)cCg>cTg	p.P698L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	698						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTGCGGCCTCGGCCGGGCCGC	0.721													False	0	True	19:39798496	0	A	39798496	G	A	39798496	3	1	88	1	0	0	0	0	1	0	0	0	8999	1116	39	1	226	1	LRFN1	19	39798496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131183	39798496	19330487	18428	26140	275	2									
LRFN1	57622	broad.mit.edu	37	chr19	39798503	39798503	+	Missense_Mutation	SNP	C	C	T													ctgctgcggcctcggccgggCcgcggctcccccaggaacta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39798503C>T	ENST00000248668.4	-	2	2085	c.2086G>A	c.(2086-2088)Gcc>Acc	p.A696T		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	696						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTCGGCCGGGCCGCGGCTCCC	0.716													False	0	True	19:39798503	0	T	39798503	C	T	39798503	3	4	88	1	0	0	0	0	1	0	0	0	8999	739	26	2	233	2	LRFN1	19	39798503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	39798503	19330480	18429	26141	275	2									
LRFN1	57622	broad.mit.edu	37	chr19	39805276	39805276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttgggcccggtgccctgcGacctcaggaagagcccgtcg	15	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39805276G>A	ENST00000248668.4	-	1	700	c.701C>T	c.(700-702)tCg>tTg	p.S234L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	234						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTGCCCTGCGACCTCAGGAA	0.682													False	0	False	19:39805276	0	A	39805276	G	A	39805276	3	1	88	1	0	0	0	0	1	0	0	0	8999	1059	37	1	1622	1	LRFN1	19	39805276	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6773	39805276	19323707	18430	26142											
LRFN1	57622	broad.mit.edu	37	chr19	39805339	39805339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtcatgtccagacggAccagcttgtgaagctgcacg	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39805339A>G	ENST00000248668.4	-	1	637	c.638T>C	c.(637-639)gTc>gCc	p.V213A	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	213						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTCCAGACGGACCAGCTTGTG	0.652													False	0	False	19:39805339	0	G	39805339	A	G	39805339	3	3	88	1	0	0	0	0	1	0	0	0	8999	275	10	4	1685	4	LRFN1	19	39805339	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63	39805339	19323644	18431	26143											
GMFG	9535	broad.mit.edu	37	chr19	39826613	39826613	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaacccctggcccctgaCcatgattgttctgtccacag	8	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39826613C>T	ENST00000598034.1	-	1	33		c.e1+1		GMFG_ENST00000253054.8_Splice_Site|GMFG_ENST00000600322.1_Intron|GMFG_ENST00000597595.1_Splice_Site|GMFG_ENST00000601387.1_Splice_Site|GMFG_ENST00000595636.1_Splice_Site|GMFG_ENST00000594700.1_Splice_Site|GMFG_ENST00000602185.1_Splice_Site			O60234	GMFG_HUMAN	glia maturation factor, gamma						protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGGCCCCTGACCATGATTGTT	0.622													False	0	False	19:39826613	0	T	39826613	C	T	39826613	5	4	88	1	0	0	0	0	0	0	1	0	6535	521	18	2	452	2	GMFG	19	39826613	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21274	39826613	19302370	18432	26144											
SAMD4B	55095	broad.mit.edu	37	chr19	39847484	39847484	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgggaccatgtgacggcGctggccctcgccaccgccgt	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39847484G>A	ENST00000314471.6	+	0	986				SAMD4B_ENST00000594204.1_3'UTR|SAMD4B_ENST00000596368.1_De_novo_Start_OutOfFrame|SAMD4B_ENST00000598913.1_De_novo_Start_OutOfFrame	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B								protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATGTGACGGCGCTGGCCCTCG	0.677													False	0	False	19:39847484	0	A	39847484	G	A	39847484	1	1	88	1	0	0	0	0	0	0	0	0	13901	1102	38	1		1	SAMD4B	19	39847484	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20871	39847484	19281499	18433	26145											
PAF1	54623	broad.mit.edu	37	chr19	39879412	39879412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacctacctaatcatggCctgagacatcatctccaacg	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39879412C>T	ENST00000221265.3	-	9	1060	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	PAF1_ENST00000221266.7_Missense_Mutation_p.A211T|PAF1_ENST00000595564.1_Missense_Mutation_p.A234T	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	244					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTAATCATGGCCTGAGACATC	0.552													False	0	False	19:39879412	0	T	39879412	C	T	39879412	3	4	88	1	0	0	0	0	1	0	0	0	11451	739	26	2	889	2	PAF1	19	39879412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31928	39879412	19249571	18434	26146											
PAF1	54623	broad.mit.edu	37	chr19	39880299	39880299	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattggggtcgatgcggtaGgtgtcaggattgatgagatc	16	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39880299G>T	ENST00000221265.3	-	4	603	c.273C>A	c.(271-273)acC>acA	p.T91T	PAF1_ENST00000221266.7_Silent_p.T81T|PAF1_ENST00000595564.1_Silent_p.T81T	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	91					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGATGCGGTAGGTGTCAGGAT	0.587													False	0	False	19:39880299	0	T	39880299	G	T	39880299	2	4	88	1	0	0	0	0	0	0	0	1	11451	987	35	3		3	PAF1	19	39880299	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	887	39880299	19248684	18435	26147											
MED29	55588	broad.mit.edu	37	chr19	39884197	39884197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttccttgtctgtagaaagAgcagtgatggacccatacag	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39884197A>G	ENST00000315588.5	+	3	392	c.343A>G	c.(343-345)Agc>Ggc	p.S115G	MED29_ENST00000594368.1_Missense_Mutation_p.S94G|MED29_ENST00000599213.2_Missense_Mutation_p.S94G	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTGTAGAAAGAGCAGTGATGG	0.473													False	0	False	19:39884197	0	G	39884197	A	G	39884197	3	3	88	1	0	0	0	0	1	0	0	0	9514	304	11	4	353	4	MED29	19	39884197	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3898	39884197	19244786	18436	26148											
PLEKHG2	64857	broad.mit.edu	37	chr19	39905984	39905984	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtcatcccaacaggactaCctgggccctctgctggacgg	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39905984C>A	ENST00000425673.1	+	4	709	c.384C>A	c.(382-384)taC>taA	p.Y128*	PLEKHG2_ENST00000378550.1_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000409794.3_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.Y69*|PLEKHG2_ENST00000409797.2_Nonsense_Mutation_p.Y128*			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	128	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AACAGGACTACCTGGGCCCTC	0.642													False	0	False	19:39905984	0	A	39905984	C	A	39905984	4	1	88	1	0	0	0	0	0	1	0	0	12138	518	18	3	394	3	PLEKHG2	19	39905984	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21787	39905984	19222999	18437	26149											
PLEKHG2	64857	broad.mit.edu	37	chr19	39907007	39907007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgagctcctggaggacttgGagaacagcagcagcgccggg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39907007G>A	ENST00000425673.1	+	5	824	c.499G>A	c.(499-501)Gag>Aag	p.E167K	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.E167K|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.E167K|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E108K|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.E167K			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	167	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAGGACTTGGAGAACAGCAG	0.667													False	0	False	19:39907007	0	A	39907007	G	A	39907007	3	1	88	1	0	0	0	0	1	0	0	0	12138	1175	41	2	513	2	PLEKHG2	19	39907007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1023	39907007	19221976	18438	26150											
PLEKHG2	64857	broad.mit.edu	37	chr19	39907596	39907596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccctgcagagcttcctgCtgaaacctgtccagcgcatt	9	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39907596C>T	ENST00000425673.1	+	7	1025	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	PLEKHG2_ENST00000378550.1_Silent_p.L234L|PLEKHG2_ENST00000409794.3_Silent_p.L234L|PLEKHG2_ENST00000458508.2_Silent_p.L175L|PLEKHG2_ENST00000409797.2_Silent_p.L234L			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	234	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGCTTCCTGCTGAAACCTGT	0.672													False	0	False	19:39907596	0	T	39907596	C	T	39907596	2	4	88	1	0	0	0	0	0	0	0	1	12138	796	28	2		2	PLEKHG2	19	39907596	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	589	39907596	19221387	18439	26151											
PLEKHG2	64857	broad.mit.edu	37	chr19	39908676	39908676	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggggtgagcggctgctcttCctgttctctcggatgctgct	15	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39908676C>A	ENST00000425673.1	+	9	1339	c.1014C>A	c.(1012-1014)ttC>ttA	p.F338L	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.F338L|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.F338L|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.F279L|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.F338L			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	338	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCTGCTCTTCCTGTTCTCTC	0.632													False	0	False	19:39908676	0	A	39908676	C	A	39908676	3	1	88	1	0	0	0	0	1	0	0	0	12138	854	30	3	1044	3	PLEKHG2	19	39908676	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1080	39908676	19220307	18440	26152											
SUPT5H	6829	broad.mit.edu	37	chr19	39955444	39955444	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaccctgcagcccctgCagatcaagtcagtagtggca	11	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39955444C>T	ENST00000599117.1	+	12	998	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.Q211*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	211	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGCCCCTGCAGATCAAGTC	0.547													False	0	False	19:39955444	0	T	39955444	C	T	39955444	4	4	88	1	0	0	0	0	0	1	0	0	15481	711	25	2	669	2	SUPT5H	19	39955444	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46768	39955444	19173539	18441	26153											
SUPT5H	6829	broad.mit.edu	37	chr19	39964966	39964966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagctaccaccaggtggCgccaagcccagcaggctacc	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39964966C>T	ENST00000599117.1	+	28	3111	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	SUPT5H_ENST00000359191.6_Missense_Mutation_p.A911V|SUPT5H_ENST00000402194.2_Missense_Mutation_p.A911V|SUPT5H_ENST00000598725.1_Missense_Mutation_p.A915V|SUPT5H_ENST00000432763.2_Missense_Mutation_p.A915V			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	915	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACCAGGTGGCGCCAAGCCCA	0.632											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:39964966	0	T	39964966	C	T	39964966	3	4	88	1	0	0	0	0	1	0	0	0	15481	768	27	1	2846	1	SUPT5H	19	39964966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9522	39964966	19164017	18442	26154											
TIMM50	92609	broad.mit.edu	37	chr19	39971218	39971218	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatctctgggcaataagtgtGatcccttccttcgctgcgtc	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39971218G>T	ENST00000314349.4	+	1	167	c.34G>T	c.(34-36)Gat>Tat	p.D12Y		NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	0					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAATAAGTGTGATCCCTTCCT	0.557													False	0	False	19:39971218	0	T	39971218	G	T	39971218	3	4	88	1	0	0	0	0	1	0	0	0	15995	1290	45	3	36	3	TIMM50	19	39971218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6252	39971218	19157765	18443	26155											
TIMM50	92609	broad.mit.edu	37	chr19	39972597	39972597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgggctcagagggtcccagCtatgccaaaaaagttgcgct	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39972597C>A	ENST00000314349.4	+	2	625	c.492C>A	c.(490-492)agC>agA	p.S164R	TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000607714.1_Missense_Mutation_p.S61R|TIMM50_ENST00000599794.1_Intron	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	61	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGTCCCAGCTATGCCAAAA	0.622													False	0	False	19:39972597	0	A	39972597	C	A	39972597	3	1	88	1	0	0	0	0	1	0	0	0	15995	796	28	3	498	3	TIMM50	19	39972597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1379	39972597	19156386	18444	26156											
DYRK1B	9149	broad.mit.edu	37	chr19	40316646	40316646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccggtcccaggcagtgaCgaggcagaggcaggggcttg	18	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40316646C>T	ENST00000593685.1	-	11	2067	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	DYRK1B_ENST00000597639.1_Silent_p.S505S|DYRK1B_ENST00000323039.5_Silent_p.S533S|DYRK1B_ENST00000430012.2_Silent_p.S493S|DYRK1B_ENST00000348817.3_Silent_p.S505S			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	533					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CAGGCAGTGACGAGGCAGAGG	0.652													False	0	False	19:40316646	0	T	40316646	C	T	40316646	2	4	88	1	0	0	0	0	0	0	0	1	4885	523	19	1		1	DYRK1B	19	40316646	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	344049	40316646	18812337	18445	26157											
DYRK1B	9149	broad.mit.edu	37	chr19	40316827	40316827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagccccattacctgggggCtgttcatctcacagtctgtg	10	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40316827C>A	ENST00000593685.1	-	10	1979	c.1511G>T	c.(1510-1512)aGc>aTc	p.S504I	DYRK1B_ENST00000597639.1_Missense_Mutation_p.S476I|DYRK1B_ENST00000323039.5_Missense_Mutation_p.S504I|DYRK1B_ENST00000430012.2_Missense_Mutation_p.S464I|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S476I			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	504	Interaction with RANBP9.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TACCTGGGGGCTGTTCATCTC	0.597													False	0	True	19:40316827	0	A	40316827	C	A	40316827	3	1	88	1	0	0	0	0	1	0	0	0	4885	797	28	3	386	3	DYRK1B	19	40316827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	181	40316827	18812156	18446	26158											
DYRK1B	9149	broad.mit.edu	37	chr19	40318000	40318000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtacttgcgagccttgggCgcctggtccagcatggcggc	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40318000C>T	ENST00000593685.1	-	8	1488	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	DYRK1B_ENST00000597639.1_Silent_p.A340A|DYRK1B_ENST00000323039.5_Silent_p.A340A|DYRK1B_ENST00000430012.2_Silent_p.A340A|DYRK1B_ENST00000348817.3_Silent_p.A340A			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	340	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GAGCCTTGGGCGCCTGGTCCA	0.642													False	0	True	19:40318000	0	T	40318000	C	T	40318000	2	4	88	1	0	0	0	0	0	0	0	1	4885	755	27	1		1	DYRK1B	19	40318000	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1173	40318000	18810983	18447	26159											
DYRK1B	9149	broad.mit.edu	37	chr19	40319092	40319092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtgcagagctgctgcgCcagcttccgggtcaggttca	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40319092C>T	ENST00000593685.1	-	6	1120	c.652G>A	c.(652-654)Gcg>Acg	p.A218T	DYRK1B_ENST00000597639.1_Missense_Mutation_p.A218T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A218T|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A218T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A218T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	218	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGCTGCTGCGCCAGCTTCCGG	0.597													False	0	False	19:40319092	0	T	40319092	C	T	40319092	3	4	88	1	0	0	0	0	1	0	0	0	4885	739	26	2	1261	2	DYRK1B	19	40319092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1092	40319092	18809891	18448	26160											
FBL	2091	broad.mit.edu	37	chr19	40327287	40327287	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtctggctgggccacatcaGcaaagatcacatccaccatt	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40327287G>T	ENST00000221801.3	-	7	817	c.704C>A	c.(703-705)gCt>gAt	p.A235D	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	235					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GGCCACATCAGCAAAGATCAC	0.537													False	0	False	19:40327287	0	T	40327287	G	T	40327287	3	4	88	1	0	0	0	0	1	0	0	0	5736	971	34	3	273	3	FBL	19	40327287	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8195	40327287	18801696	18449	26161											
FBL	2091	broad.mit.edu	37	chr19	40331285	40331285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcctccaccgccgccGccgcctccacctcctcctcg	5	27	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40331285G>A	ENST00000221801.3	-	2	266	c.153C>T	c.(151-153)ggC>ggT	p.G51G		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	51	DMA/Gly-rich.				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		caccgccgccgccgcctccac	0.662													False	0	True	19:40331285	0	A	40331285	G	A	40331285	2	1	88	1	0	0	0	0	0	0	0	1	5736	1074	38	1		1	FBL	19	40331285	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3998	40331285	18797698	18450	26162											
FCGBP	8857	broad.mit.edu	37	chr19	40354319	40354319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttctcctgggagtcatGccaatcattggtctggtccc	11	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40354319G>A	ENST00000221347.6	-	35	16157	c.16150C>T	c.(16150-16152)Cat>Tat	p.H5384Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5384	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGGAGTCATGCCAATCATTG	0.547													False	0	False	19:40354319	0	A	40354319	G	A	40354319	3	1	88	1	0	0	0	0	1	0	0	0	5818	1319	46	2	75	2	FCGBP	19	40354319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23034	40354319	18774664	18451	26163											
FCGBP	8857	broad.mit.edu	37	chr19	40357401	40357401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacccttgtttggagtcaaCgtcaccatcccatcctggaa	7	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357401C>T	ENST00000221347.6	-	34	15919	c.15912G>A	c.(15910-15912)acG>acA	p.T5304T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5304	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGGAGTCAACGTCACCATCC	0.542													False	0	False	19:40357401	0	T	40357401	C	T	40357401	2	4	88	1	0	0	0	0	0	0	0	1	5818	523	19	1		1	FCGBP	19	40357401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3082	40357401	18771582	18452	26164											
FCGBP	8857	broad.mit.edu	37	chr19	40357450	40357450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctggcccacagcctccGttttgccatggcagatctgg	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357450G>A	ENST00000221347.6	-	34	15870	c.15863C>T	c.(15862-15864)aCg>aTg	p.T5288M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5288	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCCTCCGTTTTGCCATG	0.547													False	0	True	19:40357450	0	A	40357450	G	A	40357450	3	1	88	1	0	0	0	0	1	0	0	0	5818	1145	40	1	366	1	FCGBP	19	40357450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49	40357450	18771533	18453	26165											
FCGBP	8857	broad.mit.edu	37	chr19	40357475	40357475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatggcagatctggacttCggcaactacacggtaccagg	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357475C>T	ENST00000221347.6	-	34	15845	c.15838G>A	c.(15838-15840)Gaa>Aaa	p.E5280K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5280	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATCTGGACTTCGGCAACTACA	0.577													False	0	False	19:40357475	0	T	40357475	C	T	40357475	3	4	88	1	0	0	0	0	1	0	0	0	5818	893	31	1	391	1	FCGBP	19	40357475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25	40357475	18771508	18454	26166											
FCGBP	8857	broad.mit.edu	37	chr19	40362919	40362919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggttccggagctgccCgcaggcctcgttgctctcat	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40362919C>T	ENST00000221347.6	-	32	15158	c.15151G>A	c.(15151-15153)Ggg>Agg	p.G5051R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5051	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGGAGCTGCCCGCAGGCCTCG	0.672													False	0	True	19:40362919	0	T	40362919	C	T	40362919	3	4	88	1	0	0	0	0	1	0	0	0	5818	652	23	1	1086	1	FCGBP	19	40362919	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5444	40362919	18766064	18455	26167											
FCGBP	8857	broad.mit.edu	37	chr19	40368526	40368526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagaagccagggccctcGtactgctccaaccggtcctc	10	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40368526G>A	ENST00000221347.6	-	28	12829	c.12822C>T	c.(12820-12822)taC>taT	p.Y4274Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4274	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGGCCCTCGTACTGCTCCA	0.657													False	0	False	19:40368526	0	A	40368526	G	A	40368526	2	1	88	1	0	0	0	0	0	0	0	1	5818	1140	40	1		1	FCGBP	19	40368526	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5607	40368526	18760457	18456	26168											
FCGBP	8857	broad.mit.edu	37	chr19	40384075	40384075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacaggggccctcacataCggctggcgtcgtaaggggtg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40384075C>T	ENST00000221347.6	-	21	9542	c.9535G>A	c.(9535-9537)Gta>Ata	p.V3179I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3179	TIL 7.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCTCACATACGGCTGGCGTC	0.652													False	0	False	19:40384075	0	T	40384075	C	T	40384075	3	4	88	1	0	0	0	0	1	0	0	0	5818	536	19	1	6746	1	FCGBP	19	40384075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15549	40384075	18744908	18457	26169											
FCGBP	8857	broad.mit.edu	37	chr19	40408716	40408716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccggggacggtgacccGcacatagtacacaaggtcgt	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40408716G>A	ENST00000221347.6	-	8	4130	c.4123C>T	c.(4123-4125)Cgg>Tgg	p.R1375W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1375	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGGTGACCCGCACATAGTAC	0.582													False	0	True	19:40408716	0	A	40408716	G	A	40408716	3	1	88	1	0	0	0	0	1	0	0	0	5818	1086	38	1	12210	1	FCGBP	19	40408716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24641	40408716	18720267	18458	26170											
FCGBP	8857	broad.mit.edu	37	chr19	40411738	40411738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccattaccccaggccacgTtctcctgcaggacggcaaac	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40411738T>C	ENST00000221347.6	-	7	3897	c.3890A>G	c.(3889-3891)aAc>aGc	p.N1297S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1297	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAGGCCACGTTCTCCTGCAG	0.637													False	0	False	19:40411738	0	C	40411738	T	C	40411738	3	2	88	1	0	0	0	0	1	0	0	0	5818	1725	60	4	12447	4	FCGBP	19	40411738	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3022	40411738	18717245	18459	26171											
FCGBP	8857	broad.mit.edu	37	chr19	40421334	40421334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccccggacccctggcaggTcccgaagcgatcggggtagc	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40421334T>C	ENST00000221347.6	-	5	2594	c.2587A>G	c.(2587-2589)Acc>Gcc	p.T863A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	863	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCTGGCAGGTCCCGAAGCGA	0.682													False	0	True	19:40421334	0	C	40421334	T	C	40421334	3	2	88	1	0	0	0	0	1	0	0	0	5818	1667	58	4	13758	4	FCGBP	19	40421334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9596	40421334	18707649	18460	26172											
FCGBP	8857	broad.mit.edu	37	chr19	40424170	40424170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggggccatcgagcttgGtcagcatgccacagagtcgg	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40424170G>A	ENST00000221347.6	-	4	2040	c.2033C>T	c.(2032-2034)aCc>aTc	p.T678I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	678	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATCGAGCTTGGTCAGCATGCC	0.632													False	0	False	19:40424170	0	A	40424170	G	A	40424170	3	1	88	1	0	0	0	0	1	0	0	0	5818	1261	44	2	14316	2	FCGBP	19	40424170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2836	40424170	18704813	18461	26173											
FCGBP	8857	broad.mit.edu	37	chr19	40433172	40433172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggtcagcccgctgataGccttcgtctgtgccactacc	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40433172G>A	ENST00000221347.6	-	2	1104	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	366	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCGCTGATAGCCTTCGTCTG	0.617													False	0	False	19:40433172	0	A	40433172	G	A	40433172	3	1	88	1	0	0	0	0	1	0	0	0	5818	971	34	2	15260	2	FCGBP	19	40433172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9002	40433172	18695811	18462	26174											
FCGBP	8857	broad.mit.edu	37	chr19	40433216	40433216	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacgccctcacagcctggTacactcttgaccacataggc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40433216T>C	ENST00000221347.6	-	2	1060	c.1053A>G	c.(1051-1053)gtA>gtG	p.V351V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	351	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCCTGGTACACTCTTGA	0.592													False	0	False	19:40433216	0	C	40433216	T	C	40433216	2	2	88	1	0	0	0	0	0	0	0	1	5818	1625	57	4		4	FCGBP	19	40433216	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44	40433216	18695767	18463	26175											
PSMC4	5704	broad.mit.edu	37	chr19	40480536	40480536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgcatttcgagctctacaAgcaggtgaggcggtgcaggt	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40480536A>G	ENST00000157812.2	+	5	773	c.575A>G	c.(574-576)aAg>aGg	p.K192R	PSMC4_ENST00000455878.2_Missense_Mutation_p.K161R	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	192					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAGCTCTACAAGCAGGTGAGG	0.617													False	0	False	19:40480536	0	G	40480536	A	G	40480536	3	3	88	1	0	0	0	0	1	0	0	0	12765	72	3	4	593	4	PSMC4	19	40480536	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47320	40480536	18648447	18464	26176											
PSMC4	5704	broad.mit.edu	37	chr19	40485876	40485876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatcgccaccaagagattcGatgctcagacagggggtaag	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40485876G>A	ENST00000157812.2	+	7	1024	c.826G>A	c.(826-828)Gat>Aat	p.D276N	PSMC4_ENST00000455878.2_Missense_Mutation_p.D245N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	276					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAAGAGATTCGATGCTCAGAC	0.582													False	0	False	19:40485876	0	A	40485876	G	A	40485876	3	1	88	1	0	0	0	0	1	0	0	0	12765	1058	37	1	852	1	PSMC4	19	40485876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5340	40485876	18643107	18465	26177											
PSMC4	5704	broad.mit.edu	37	chr19	40486024	40486024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagctgctgaatcagatgGatggatttgatcagaatgtc	13	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40486024G>A	ENST00000157812.2	+	8	1087	c.889G>A	c.(889-891)Gat>Aat	p.D297N	PSMC4_ENST00000455878.2_Missense_Mutation_p.D266N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAATCAGATGGATGGATTTGA	0.552													False	0	True	19:40486024	0	A	40486024	G	A	40486024	3	1	88	1	0	0	0	0	1	0	0	0	12765	1174	41	2	919	2	PSMC4	19	40486024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148	40486024	18642959	18466	26178											
PSMC4	5704	broad.mit.edu	37	chr19	40486618	40486618	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgatattaactccatctgTcaggaggtaagtggtggttt	12	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40486618T>C	ENST00000157812.2	+	10	1335	c.1137T>C	c.(1135-1137)tgT>tgC	p.C379C	PSMC4_ENST00000455878.2_Silent_p.C348C	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	379					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACTCCATCTGTCAGGAGGTAA	0.532													False	0	False	19:40486618	0	C	40486618	T	C	40486618	2	2	88	1	0	0	0	0	0	0	0	1	12765	1673	58	4		4	PSMC4	19	40486618	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	594	40486618	18642365	18467	26179											
ZNF546	339327	broad.mit.edu	37	chr19	40504294	40504294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctcatttttcaaatcattCctctgcactcactttctata	1	12	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40504294C>T	ENST00000347077.4	+	3	277	c.61C>T	c.(61-63)Cct>Tct	p.P21S	ZNF546_ENST00000600094.1_Intron|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCAAATCATTCCTCTGCACTC	0.403													False	0	False	19:40504294	0	T	40504294	C	T	40504294	3	4	88	1	0	0	0	0	1	0	0	0	18061	855	30	2	63	2	ZNF546	19	40504294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17676	40504294	18624689	18468	26180											
ZNF546	339327	broad.mit.edu	37	chr19	40513257	40513257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggacgctgtgcagagggActtgtacaaggatgtgatgt	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40513257A>G	ENST00000347077.4	+	5	464	c.248A>G	c.(247-249)gAc>gGc	p.D83G	ZNF546_ENST00000600094.1_Missense_Mutation_p.D57G|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	83	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTGCAGAGGGACTTGTACAAG	0.458													False	0	True	19:40513257	0	G	40513257	A	G	40513257	3	3	88	1	0	0	0	0	1	0	0	0	18061	275	10	4	258	4	ZNF546	19	40513257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8963	40513257	18615726	18469	26181											
ZNF546	339327	broad.mit.edu	37	chr19	40521033	40521033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaatgtgggaaagcctttcGatttcaaacagaacttactc	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40521033G>A	ENST00000347077.4	+	7	2072	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	ZNF546_ENST00000600094.1_Missense_Mutation_p.R593Q|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R619Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAGCCTTTCGATTTCAAACA	0.363													False	0	False	19:40521033	0	A	40521033	G	A	40521033	3	1	88	1	0	0	0	0	1	0	0	0	18061	1058	37	1	1874	1	ZNF546	19	40521033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7776	40521033	18607950	18470	26182											
ZNF780B	163131	broad.mit.edu	37	chr19	40542318	40542318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagcatgagtataagcagGcatttcttcatagctgatga	10	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40542318G>T	ENST00000434248.1	-	5	513	c.448C>A	c.(448-450)Cct>Act	p.P150T	ZNF780B_ENST00000221355.6_Missense_Mutation_p.P2T	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTATAAGCAGGCATTTCTTCA	0.343													False	0	False	19:40542318	0	T	40542318	G	T	40542318	3	4	88	1	0	0	0	0	1	0	0	0	18235	1203	42	3	2057	3	ZNF780B	19	40542318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21285	40542318	18586665	18471	26183											
ZNF780A	284323	broad.mit.edu	37	chr19	40581425	40581425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaaggccatcccacattcCttacatacaaagggtttctc	6	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40581425C>T	ENST00000450241.2	-	6	1133	c.822G>A	c.(820-822)aaG>aaA	p.K274K	ZNF780A_ENST00000595687.2_Silent_p.K308K|ZNF780A_ENST00000340963.5_Silent_p.K308K|ZNF780A_ENST00000594395.1_Silent_p.K309K|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.K309K			O75290	Z780A_HUMAN	zinc finger protein 780A	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K274N(1)|p.K309N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCCCACATTCCTTACATACAA	0.388													False	0	False	19:40581425	0	T	40581425	C	T	40581425	2	4	88	1	0	0	0	0	0	0	0	1	18234	680	24	2		2	ZNF780A	19	40581425	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39107	40581425	18547558	18472	26184											
MAP3K10	4294	broad.mit.edu	37	chr19	40719444	40719444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagttcgcggaggcagagGatggaggcagcagcgtgccc	19	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40719444G>A	ENST00000253055.3	+	9	2146	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	620					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAGGCAGAGGATGGAGGCAG	0.721													False	0	False	19:40719444	0	A	40719444	G	A	40719444	3	1	88	1	0	0	0	0	1	0	0	0	9311	1174	41	2	1892	2	MAP3K10	19	40719444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138019	40719444	18409539	18473	26185											
TTC9B	148014	broad.mit.edu	37	chr19	40724059	40724059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcccggaacttcttctctCgatagcagcgctggccctct	8	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40724059C>T	ENST00000311308.6	-	1	247	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	77							binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CTTCTTCTCTCGATAGCAGCG	0.736													False	0	True	19:40724059	0	T	40724059	C	T	40724059	3	4	88	1	0	0	0	0	1	0	0	0	16800	884	31	1	501	1	TTC9B	19	40724059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4615	40724059	18404924	18474	26186											
AKT2	208	broad.mit.edu	37	chr19	40743876	40743876	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacaccctgccactaacCttgatgtcgcggtataccac	8	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40743876C>A	ENST00000392038.2	-	9	1129	c.831G>T	c.(829-831)aaG>aaT	p.K277N	AKT2_ENST00000311278.6_Splice_Site_p.K277N|AKT2_ENST00000579047.1_Splice_Site_p.K215N|AKT2_ENST00000424901.1_Splice_Site_p.K277N	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	277	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGCCACTAACCTTGATGTCGC	0.592			A		"ovarian, pancreatic "								False	0	False	19:40743876	0	A	40743876	C	A	40743876	5	1	88	1	0	0	0	0	0	0	1	0	480	695	24	3	638	3	AKT2	19	40743876	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19817	40743876	18385107	18475	26187											
PLD3	0	broad.mit.edu	37	chr19	40884077	40884077	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcaacgcctgccgcctgctCtgaggcccgatccagtgggc	14	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40884077C>A	ENST00000409587.1	+	13	1867	c.1470C>A	c.(1468-1470)ctC>ctA	p.L490L	PLD3_ENST00000409419.1_Silent_p.L490L|PLD3_ENST00000356508.5_Silent_p.L490L|PLD3_ENST00000409281.1_Silent_p.L490L|PLD3_ENST00000409735.4_Silent_p.L490L			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	490					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCGCCTGCTCTGAGGCCCGA	0.687													False	0	False	19:40884077	0	A	40884077	C	A	40884077	2	1	88	1	0	0	0	0	0	0	0	1	12116	900	32	3		3	PLD3	19	40884077	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140201	40884077	18244906	18476	26188											
HIPK4	147746	broad.mit.edu	37	chr19	40885655	40885655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccaggacagctgctggggtCgaagagctcagggtctggcc	16	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40885655C>T	ENST00000291823.2	-	4	1974	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	564						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTGCTGGGGTCGAAGAGCTCA	0.637													False	0	False	19:40885655	0	T	40885655	C	T	40885655	3	4	88	1	0	0	0	0	1	0	0	0	7166	884	31	1	164	1	HIPK4	19	40885655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1578	40885655	18243328	18477	26189											
HIPK4	147746	broad.mit.edu	37	chr19	40889760	40889760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtcagggtgggggttgCgcttgaagaagtggtgggcc	20	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40889760C>T	ENST00000291823.2	-	2	1036	c.752G>A	c.(751-753)cGc>cAc	p.R251H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	251	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTGGGGGTTGCGCTTGAAGAA	0.617													False	0	False	19:40889760	0	T	40889760	C	T	40889760	3	4	88	1	0	0	0	0	1	0	0	0	7166	768	27	1	1110	1	HIPK4	19	40889760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4105	40889760	18239223	18478	26190											
HIPK4	147746	broad.mit.edu	37	chr19	40889978	40889978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggggcccggtagaagcgCgactggatgtatggctcctt	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40889978C>T	ENST00000291823.2	-	2	818	c.534G>A	c.(532-534)tcG>tcA	p.S178S		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	178	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGTAGAAGCGCGACTGGATGT	0.637													False	0	False	19:40889978	0	T	40889978	C	T	40889978	2	4	88	1	0	0	0	0	0	0	0	1	7166	755	27	1		1	HIPK4	19	40889978	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	40889978	18239005	18479	26191											
HIPK4	147746	broad.mit.edu	37	chr19	40895661	40895661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctcgttcttgatgatgCggttgcggtaggcgtcattc	13	9	3	2	rs146668696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40895661C>T	ENST00000291823.2	-	1	433	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	50	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTTGATGATGCGGTTGCGGTA	0.607													False	0	True	19:40895661	0	T	40895661	C	T	40895661	3	4	88	1	0	0	0	0	1	0	0	0	7166	768	27	1	1717	1	HIPK4	19	40895661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5683	40895661	18233322	18480	26192											
PRX	57716	broad.mit.edu	37	chr19	40902860	40902860	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caccttggggagctccacctCtgggagtcgaacctctggaa	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40902860C>A	ENST00000324001.7	-	7	1669	c.1399G>T	c.(1399-1401)Gag>Tag	p.E467*	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	467	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTCCACCTCTGGGAGTCGA	0.597													False	0	False	19:40902860	0	A	40902860	C	A	40902860	4	1	88	1	0	0	0	0	0	1	0	0	12718	922	32	3	2990	3	PRX	19	40902860	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7199	40902860	18226123	18481	26193											
PRX	57716	broad.mit.edu	37	chr19	40904649	40904649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagactttgtaaggctcggCgcattgcagcaggcgtagtg	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40904649C>T	ENST00000291825.7	-	6	527	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	PRX_ENST00000324001.7_Missense_Mutation_p.A87T	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	periaxin	87	PDZ.				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAAGGCTCGGCGCATTGCAGC	0.647													False	0	False	19:40904649	0	T	40904649	C	T	40904649	3	4	88	1	0	0	0	0	1	0	0	0	12718	768	27	1	4197	1	PRX	19	40904649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1789	40904649	18224334	18482	26194											
SERTAD1	29950	broad.mit.edu	37	chr19	40929186	40929186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcaggtgggctaggcaCaggtggcagggcagccgcgg	21	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40929186C>T	ENST00000357949.4	-	2	426	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	90					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGCTAGGCACAGGTGGCAGG	0.672													False	0	False	19:40929186	0	T	40929186	C	T	40929186	3	4	88	1	0	0	0	0	1	0	0	0	14201	478	17	2	446	2	SERTAD1	19	40929186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24537	40929186	18199797	18483	26195											
SERTAD3	29946	broad.mit.edu	37	chr19	40947463	40947463	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcccaagaacctggggcacaGaagaggttgtgaggaggctc	15	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40947463G>T	ENST00000322354.3	-	2	1021	c.525C>A	c.(523-525)ttC>ttA	p.F175L	SERTAD3_ENST00000392028.4_Missense_Mutation_p.F175L	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	175					negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGGGCACAGAAGAGGTTGT	0.527													False	0	False	19:40947463	0	T	40947463	G	T	40947463	3	4	88	1	0	0	0	0	1	0	0	0	14203	933	33	3	69	3	SERTAD3	19	40947463	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18277	40947463	18181520	18484	26196											
SPTBN4	57731	broad.mit.edu	37	chr19	40978533	40978533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcaccttccccgatggCgcaggtaccaggggaagtgg	15	13	1	0	rs139091351		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40978533C>T	ENST00000352632.3	+	2	91	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A2V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A2V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A2V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A2V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2	Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCCCGATGGCGCAGGTACCA	0.597													False	0	False	19:40978533	0	T	40978533	C	T	40978533	3	4	88	1	0	0	0	0	1	0	0	0	15203	768	27	1	7	1	SPTBN4	19	40978533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31070	40978533	18150450	18485	26197											
SPTBN4	57731	broad.mit.edu	37	chr19	41008410	41008410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcatctgggatattgAcaaggtgaggccggggatgc	17	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41008410A>G	ENST00000352632.3	+	10	1285	c.1199A>G	c.(1198-1200)gAc>gGc	p.D400G	SPTBN4_ENST00000595535.1_Missense_Mutation_p.D400G|SPTBN4_ENST00000598249.1_Missense_Mutation_p.D400G|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D400G|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D400G			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	400					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGATATTGACAAGGTGAGG	0.562													False	0	False	19:41008410	0	G	41008410	A	G	41008410	3	3	88	1	0	0	0	0	1	0	0	0	15203	275	10	4	1233	4	SPTBN4	19	41008410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29877	41008410	18120573	18486	26198											
SPTBN4	57731	broad.mit.edu	37	chr19	41009865	41009865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccaggcattggcagcCgaaggctactacgatatccg	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41009865C>T	ENST00000352632.3	+	12	1577	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	SPTBN4_ENST00000595535.1_Silent_p.A497A|SPTBN4_ENST00000598249.1_Silent_p.A497A|SPTBN4_ENST00000344104.3_Silent_p.A497A|SPTBN4_ENST00000338932.3_Silent_p.A497A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	497					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATTGGCAGCCGAAGGCTACT	0.662													False	0	False	19:41009865	0	T	41009865	C	T	41009865	2	4	88	1	0	0	0	0	0	0	0	1	15203	639	23	1		1	SPTBN4	19	41009865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1455	41009865	18119118	18487	26199											
SPTBN4	57731	broad.mit.edu	37	chr19	41019444	41019444	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggattcactcgacgacgtCgaggtggtgcagcaccggtg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41019444C>T	ENST00000352632.3	+	14	2834	c.2748C>T	c.(2746-2748)gtC>gtT	p.V916V	SPTBN4_ENST00000595535.1_Silent_p.V916V|SPTBN4_ENST00000598249.1_Silent_p.V916V|SPTBN4_ENST00000344104.3_Silent_p.V916V|SPTBN4_ENST00000338932.3_Silent_p.V916V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	916					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCGACGACGTCGAGGTGGTGC	0.602													False	0	False	19:41019444	0	T	41019444	C	T	41019444	2	4	88	1	0	0	0	0	0	0	0	1	15203	871	31	1		1	SPTBN4	19	41019444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9579	41019444	18109539	18488	26200											
SPTBN4	57731	broad.mit.edu	37	chr19	41021217	41021217	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcatctccatcctcctgcaGattcgagagcctggaccaag	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41021217G>T	ENST00000352632.3	+	15	2851		c.e15-1		SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCTCCTGCAGATTCGAGAGC	0.537													False	0	False	19:41021217	0	T	41021217	G	T	41021217	5	4	88	1	0	0	0	0	0	0	1	0	15203	956	33	3	2819	3	SPTBN4	19	41021217	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1773	41021217	18107766	18489	26201											
SPTBN4	57731	broad.mit.edu	37	chr19	41040188	41040188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcacatggagagccagCtgcaagacgtggaccctgga	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41040188C>T	ENST00000352632.3	+	20	4383	c.4297C>T	c.(4297-4299)Ctg>Ttg	p.L1433L	SPTBN4_ENST00000595535.1_Silent_p.L1433L|SPTBN4_ENST00000392025.1_Silent_p.L176L|SPTBN4_ENST00000598249.1_Silent_p.L1433L|SPTBN4_ENST00000338932.3_Silent_p.L1433L|SPTBN4_ENST00000392023.1_Silent_p.L109L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1433					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGAGCCAGCTGCAAGACGT	0.592													False	0	False	19:41040188	0	T	41040188	C	T	41040188	2	4	88	1	0	0	0	0	0	0	0	1	15203	796	28	2		2	SPTBN4	19	41040188	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18971	41040188	18088795	18490	26202											
SPTBN4	57731	broad.mit.edu	37	chr19	41062025	41062025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagtctcaggtggaccGcctgtacgtggcgctcaagg	16	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41062025G>A	ENST00000352632.3	+	25	5206	c.5120G>A	c.(5119-5121)cGc>cAc	p.R1707H	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R450H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1707H|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R383H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1707					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGTGGACCGCCTGTACGTG	0.667													False	0	False	19:41062025	0	A	41062025	G	A	41062025	3	1	88	1	0	0	0	0	1	0	0	0	15203	1087	38	1	5214	1	SPTBN4	19	41062025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21837	41062025	18066958	18491	26203											
SPTBN4	57731	broad.mit.edu	37	chr19	41063119	41063119	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagctcatgggcacacgggCccagctgctggccgcctctc	14	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41063119C>A	ENST00000352632.3	+	26	5566	c.5480C>A	c.(5479-5481)gCc>gAc	p.A1827D	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A570D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1827D|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A503D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1827					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCACACGGGCCCAGCTGCTG	0.647													False	0	True	19:41063119	0	A	41063119	C	A	41063119	3	1	88	1	0	0	0	0	1	0	0	0	15203	739	26	3	5578	3	SPTBN4	19	41063119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1094	41063119	18065864	18492	26204											
LTBP4	8425	broad.mit.edu	37	chr19	41119858	41119858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggaggacctttgccagaGcggcatctgtaccaacaccg	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41119858G>A	ENST00000308370.7	+	21	2795	c.2795G>A	c.(2794-2796)aGc>aAc	p.S932N	LTBP4_ENST00000396819.3_Missense_Mutation_p.S865N|LTBP4_ENST00000204005.9_Missense_Mutation_p.S895N|LTBP4_ENST00000545697.1_Missense_Mutation_p.S385N|LTBP4_ENST00000243562.9_Missense_Mutation_p.S30N|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	932	Cys-rich.|EGF-like 11; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTTGCCAGAGCGGCATCTGT	0.682													False	0	False	19:41119858	0	A	41119858	G	A	41119858	3	1	88	1	0	0	0	0	1	0	0	0	9138	971	34	2	3170	2	LTBP4	19	41119858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56739	41119858	18009125	18493	26205											
LTBP4	8425	broad.mit.edu	37	chr19	41125325	41125325	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatgtcgaaggctccttcctCtgtgtctgccccaacagccc	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41125325C>A	ENST00000308370.7	+	26	3342	c.3342C>A	c.(3340-3342)ctC>ctA	p.L1114L	LTBP4_ENST00000396819.3_Silent_p.L1047L|LTBP4_ENST00000204005.9_Silent_p.L1077L|LTBP4_ENST00000545697.1_Silent_p.L482L|LTBP4_ENST00000243562.9_Silent_p.L168L|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1115	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCCTTCCTCTGTGTCTGCC	0.522													False	0	True	19:41125325	0	A	41125325	C	A	41125325	2	1	88	1	0	0	0	0	0	0	0	1	9138	900	32	3		3	LTBP4	19	41125325	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5467	41125325	18003658	18494	26206											
LTBP4	8425	broad.mit.edu	37	chr19	41135381	41135381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacacggatggctccttcCgctgcatctgccgcccggga	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41135381C>T	ENST00000308370.7	+	34	4798	c.4798C>T	c.(4798-4800)Cgc>Tgc	p.R1600C	LTBP4_ENST00000396819.3_Missense_Mutation_p.R1533C|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1563C|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1601	EGF-like 16.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCTCCTTCCGCTGCATCTG	0.706													False	0	False	19:41135381	0	T	41135381	C	T	41135381	3	4	88	1	0	0	0	0	1	0	0	0	9138	652	23	1	5223	1	LTBP4	19	41135381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10056	41135381	17993602	18495	26207											
NUMBL	9253	broad.mit.edu	37	chr19	41173718	41173718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcggtgggtagcccaagccCgggtaggcgggcacaaaagg	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41173718C>T	ENST00000252891.4	-	10	1652	c.1485G>A	c.(1483-1485)ccG>ccA	p.P495P	NUMBL_ENST00000540131.1_Silent_p.P454P|NUMBL_ENST00000598779.1_Silent_p.P454P	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	495					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGCCCAAGCCCGGGTAGGCGG	0.687													False	0	True	19:41173718	0	T	41173718	C	T	41173718	2	4	88	1	0	0	0	0	0	0	0	1	10820	639	23	1		1	NUMBL	19	41173718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38337	41173718	17955265	18496	26208											
NUMBL	9253	broad.mit.edu	37	chr19	41173926	41173926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgctgctggGccttggccacctgtgacacc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41173926G>A	ENST00000252891.4	-	10	1444	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	NUMBL_ENST00000540131.1_Missense_Mutation_p.A385V|NUMBL_ENST00000598779.1_Missense_Mutation_p.A385V	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	426					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgGGCCTTGGCCAC	0.662													False	0	False	19:41173926	0	A	41173926	G	A	41173926	3	1	88	1	0	0	0	0	1	0	0	0	10820	1203	42	2	556	2	NUMBL	19	41173926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	208	41173926	17955057	18497	26209											
NUMBL	9253	broad.mit.edu	37	chr19	41188694	41188694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccacaggacagacttcacgGactttcggcccatctggagg	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41188694G>A	ENST00000252891.4	-	5	505	c.338C>T	c.(337-339)tCc>tTc	p.S113F	NUMBL_ENST00000540131.1_Missense_Mutation_p.S72F|NUMBL_ENST00000598779.1_Missense_Mutation_p.S72F	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	113	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGACTTCACGGACTTTCGGCC	0.652													False	0	False	19:41188694	0	A	41188694	G	A	41188694	3	1	88	1	0	0	0	0	1	0	0	0	10820	1174	41	2	1515	2	NUMBL	19	41188694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14768	41188694	17940289	18498	26210											
ADCK4	79934	broad.mit.edu	37	chr19	41198107	41198107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcccctgccagcttgcGgtgcagggcataggtctcct	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41198107G>A	ENST00000324464.3	-	15	1769	c.1468C>T	c.(1468-1470)Cgc>Tgc	p.R490C	ADCK4_ENST00000450541.1_Missense_Mutation_p.R449C|ADCK4_ENST00000243583.6_Missense_Mutation_p.R449C	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	490						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCCAGCTTGCGGTGCAGGGCA	0.682													False	0	False	19:41198107	0	A	41198107	G	A	41198107	3	1	88	1	0	0	0	0	1	0	0	0	290	1116	39	1	170	1	ADCK4	19	41198107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9413	41198107	17930876	18499	26211											
ADCK4	79934	broad.mit.edu	37	chr19	41201931	41201931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaactctgtcccaaactccCggcttgcaccaaagtccagc	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41201931C>T	ENST00000324464.3	-	13	1473	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ADCK4_ENST00000450541.1_Missense_Mutation_p.R350Q|ADCK4_ENST00000243583.6_Missense_Mutation_p.R350Q	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	391	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCCAAACTCCCGGCTTGCACC	0.562													False	0	True	19:41201931	0	T	41201931	C	T	41201931	3	4	88	1	0	0	0	0	1	0	0	0	290	652	23	1	474	1	ADCK4	19	41201931	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3824	41201931	17927052	18500	26212											
EGLN2	112398	broad.mit.edu	37	chr19	41306816	41306816	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggcagcccagggcgcacgGcctgaggcccccaaacggaa	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41306816G>T	ENST00000593726.1	+	1	1367	c.339G>T	c.(337-339)cgG>cgT	p.R113R	EGLN2_ENST00000406058.2_Silent_p.R113R|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Silent_p.R113R			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	113					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	AGGGCGCACGGCCTGAGGCCC	0.687													False	0	False	19:41306816	0	T	41306816	G	T	41306816	2	4	88	1	0	0	0	0	0	0	0	1	4999	1190	42	3		3	EGLN2	19	41306816	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104885	41306816	17822167	18501	26213											
CYP2A7	1549	broad.mit.edu	37	chr19	41388043	41388043	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgctcttcctctgctGccagacagacatcaagacca	6	18	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41388043G>A	ENST00000301146.4	-	1	614	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	CYP2A7_ENST00000291764.3_Nonsense_Mutation_p.Q25*|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	25						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTCCTCTGCTGCCAGACAGAC	0.572													False	0	False	19:41388043	0	A	41388043	G	A	41388043	4	1	88	1	0	0	0	0	0	1	0	0	4188	1328	46	2	1457	2	CYP2A7	19	41388043	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81227	41388043	17740940	18502	26214											
CYP2B6	1555	broad.mit.edu	37	chr19	41509926	41509926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgagagaaatatggggaCgtcttcacggtacacctggg	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41509926C>T	ENST00000324071.4	+	2	199	c.192C>T	c.(190-192)gaC>gaT	p.D64D	CYP2B6_ENST00000330446.5_Silent_p.D24D|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_5'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	64					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	AATATGGGGACGTCTTCACGG	0.532													False	0	False	19:41509926	0	T	41509926	C	T	41509926	2	4	88	1	0	0	0	0	0	0	0	1	4189	535	19	1		1	CYP2B6	19	41509926	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121883	41509926	17619057	18503	26215											
CYP2B6	1555	broad.mit.edu	37	chr19	41509980	41509980	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgctgtgtggagtagaGgccatacgggaggcccttgt	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41509980G>T	ENST00000324071.4	+	2	253	c.246G>T	c.(244-246)gaG>gaT	p.E82D	CYP2B6_ENST00000330446.5_Missense_Mutation_p.E42D|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Missense_Mutation_p.E6D	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	82					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GTGGAGTAGAGGCCATACGGG	0.587													False	0	False	19:41509980	0	T	41509980	G	T	41509980	3	4	88	1	0	0	0	0	1	0	0	0	4189	991	35	3	252	3	CYP2B6	19	41509980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	41509980	17619003	18504	26216											
CYP2B6	1555	broad.mit.edu	37	chr19	41518231	41518231	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacagggagattgaacaggtGattggcccacatcgccctcc	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41518231G>A	ENST00000324071.4	+	7	1000	c.993G>A	c.(991-993)gtG>gtA	p.V331V	CYP2B6_ENST00000330446.5_Silent_p.V131V|CYP2B6_ENST00000593831.1_Silent_p.V95V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	331					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TTGAACAGGTGATTGGCCCAC	0.483													False	0	False	19:41518231	0	A	41518231	G	A	41518231	2	1	88	1	0	0	0	0	0	0	0	1	4189	1277	45	2		2	CYP2B6	19	41518231	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8251	41518231	17610752	18505	26217											
CYP2A13	1553	broad.mit.edu	37	chr19	41594992	41594992	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgactggctcttcaaaggCtatggtgagggggtgcccaa	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41594992C>A	ENST00000330436.3	+	2	339	c.339C>A	c.(337-339)ggC>ggA	p.G113G		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	113					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TCTTCAAAGGCTATGGTGAGG	0.632													False	0	False	19:41594992	0	A	41594992	C	A	41594992	2	1	88	1	0	0	0	0	0	0	0	1	4186	784	28	3		3	CYP2A13	19	41594992	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76761	41594992	17533991	18506	26218											
CYP2A13	1553	broad.mit.edu	37	chr19	41596450	41596450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggaagcttccagttcaCggcaacctccacggggcagg	14	13	1	0	rs144283445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41596450C>T	ENST00000330436.3	+	4	635	c.635C>T	c.(634-636)aCg>aTg	p.T212M		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	212					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TTCCAGTTCACGGCAACCTCC	0.572													False	0	False	19:41596450	0	T	41596450	C	T	41596450	3	4	88	1	0	0	0	0	1	0	0	0	4186	536	19	1	649	1	CYP2A13	19	41596450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1458	41596450	17532533	18507	26219											
CYP2A13	1553	broad.mit.edu	37	chr19	41600274	41600274	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagatttggagacatgctCcccatgggtttggcccacag	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41600274C>T	ENST00000330436.3	+	7	1098	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	366					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GAGACATGCTCCCCATGGGTT	0.562													False	0	True	19:41600274	0	T	41600274	C	T	41600274	2	4	88	1	0	0	0	0	0	0	0	1	4186	842	30	2		2	CYP2A13	19	41600274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3824	41600274	17528709	18508	26220											
CYP2A13	1553	broad.mit.edu	37	chr19	41601664	41601664	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgcctctcctcctcaGgaaagcggtactgttttgga	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41601664G>T	ENST00000330436.3	+	9	1303		c.e9-1			NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CTCCTCCTCAGGAAAGCGGTA	0.577													False	0	False	19:41601664	0	T	41601664	G	T	41601664	5	4	88	1	0	0	0	0	0	0	1	0	4186	1014	35	3	1337	3	CYP2A13	19	41601664	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1390	41601664	17527319	18509	26221											
CYP2F1	1572	broad.mit.edu	37	chr19	41626311	41626311	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacagttctctatccagattCtacggaatttcgggatgggg	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41626311C>A	ENST00000331105.2	+	4	466	c.394C>A	c.(394-396)Cta>Ata	p.L132I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	132					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TATCCAGATTCTACGGAATTT	0.547													False	0	False	19:41626311	0	A	41626311	C	A	41626311	3	1	88	1	0	0	0	0	1	0	0	0	4196	912	32	3	404	3	CYP2F1	19	41626311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24647	41626311	17502672	18510	26222											
CYP2F1	1572	broad.mit.edu	37	chr19	41633864	41633864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctctttctgtacctcacCgccatcctgcagagcttttc	7	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41633864C>T	ENST00000331105.2	+	10	1425	c.1353C>T	c.(1351-1353)acC>acT	p.T451T		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	451					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGTACCTCACCGCCATCCTGC	0.647													False	0	False	19:41633864	0	T	41633864	C	T	41633864	2	4	88	1	0	0	0	0	0	0	0	1	4196	639	23	1		1	CYP2F1	19	41633864	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7553	41633864	17495119	18511	26223											
CYP2S1	29785	broad.mit.edu	37	chr19	41704369	41704369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccccattccccccaggaCgcccattcgatccctccctg	6	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41704369C>T	ENST00000310054.4	+	4	712	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	166					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCCCCCAGGACGCCCATTCGA	0.627													False	0	False	19:41704369	0	T	41704369	C	T	41704369	3	4	88	1	0	0	0	0	1	0	0	0	4199	536	19	1	510	1	CYP2S1	19	41704369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70505	41704369	17424614	18512	26224											
CYP2S1	29785	broad.mit.edu	37	chr19	41704625	41704625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccacagacctacgagatGttctcctggttcctgcggcc	9	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41704625G>A	ENST00000310054.4	+	5	882	c.666G>A	c.(664-666)atG>atA	p.M222I	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	222					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCTACGAGATGTTCTCCTGGT	0.627													False	0	False	19:41704625	0	A	41704625	G	A	41704625	3	1	88	1	0	0	0	0	1	0	0	0	4199	1377	48	2	684	2	CYP2S1	19	41704625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256	41704625	17424358	18513	26225											
AXL	558	broad.mit.edu	37	chr19	41726619	41726619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactcacgggcacccttcGgtgtcagctccaggttcagg	14	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41726619G>A	ENST00000301178.4	+	2	354	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	AXL_ENST00000359092.3_Missense_Mutation_p.R55Q|AXL_ENST00000594880.1_3'UTR	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	55	Ig-like C2-type 1.|Interaction with GAS6.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGCACCCTTCGGTGTCAGCTC	0.637													False	0	False	19:41726619	0	A	41726619	G	A	41726619	3	1	88	1	0	0	0	0	1	0	0	0	1242	1116	39	1	170	1	AXL	19	41726619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21994	41726619	17402364	18514	26226											
AXL	558	broad.mit.edu	37	chr19	41726632	41726632	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccttcggtgtcagctccaGgttcagggagagccccccga	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41726632G>T	ENST00000301178.4	+	2	367	c.177G>T	c.(175-177)caG>caT	p.Q59H	AXL_ENST00000359092.3_Missense_Mutation_p.Q59H|AXL_ENST00000594880.1_3'UTR	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	59	Ig-like C2-type 1.|Interaction with GAS6.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTCAGCTCCAGGTTCAGGGAG	0.642													False	0	False	19:41726632	0	T	41726632	G	T	41726632	3	4	88	1	0	0	0	0	1	0	0	0	1242	991	35	3	183	3	AXL	19	41726632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	41726632	17402351	18515	26227											
AXL	558	broad.mit.edu	37	chr19	41748838	41748838	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccctggtggtatgtactgCtaggagcagtcgtggccgct	16	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41748838C>A	ENST00000301178.4	+	11	1553	c.1363C>A	c.(1363-1365)Cta>Ata	p.L455I	AXL_ENST00000593513.1_Missense_Mutation_p.L187I|AXL_ENST00000359092.3_Missense_Mutation_p.L446I	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	455						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTATGTACTGCTAGGAGCAGT	0.552													False	0	False	19:41748838	0	A	41748838	C	A	41748838	3	1	88	1	0	0	0	0	1	0	0	0	1242	796	28	3	1405	3	AXL	19	41748838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22206	41748838	17380145	18516	26228											
AXL	558	broad.mit.edu	37	chr19	41765518	41765518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggccaagttttacagaGctgcgggaagatttggagaa	14	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41765518G>A	ENST00000301178.4	+	20	2584	c.2394G>A	c.(2392-2394)gaG>gaA	p.E798E	AXL_ENST00000593513.1_Silent_p.E530E|AXL_ENST00000359092.3_Silent_p.E789E	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	798	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTTTTACAGAGCTGCGGGAAG	0.552													False	0	False	19:41765518	0	A	41765518	G	A	41765518	2	1	88	1	0	0	0	0	0	0	0	1	1242	962	34	2		2	AXL	19	41765518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16680	41765518	17363465	18517	26229											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41807498	41807498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatttgaaggcttccagCgcaaagctattgtaatttgt	9	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41807498C>T	ENST00000392006.3	+	11	1749	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R526C|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R437C|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R412C|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R426C	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	526	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGCTTCCAGCGCAAAGCTAT	0.458													False	0	False	19:41807498	0	T	41807498	C	T	41807498	3	4	88	1	0	0	0	0	1	0	0	0	7321	768	27	1	1618	1	HNRNPUL1	19	41807498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41980	41807498	17321485	18518	26230											
TGFB1	7040	broad.mit.edu	37	chr19	41854288	41854288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacacgggttcaggtaccGcttctcggagctctgatgtg	13	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41854288G>A	ENST00000221930.5	-	2	1294	c.428C>T	c.(427-429)gCg>gTg	p.A143V		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	143					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TTCAGGTACCGCTTCTCGGAG	0.507													False	0	False	19:41854288	0	A	41854288	G	A	41854288	3	1	88	1	0	0	0	0	1	0	0	0	15898	1087	38	1	768	1	TGFB1	19	41854288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46790	41854288	17274695	18519	26231											
B9D2	80776	broad.mit.edu	37	chr19	41860620	41860620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctcagcactccacgccGtagcggtcgaagttgcggag	13	14	1	0	rs143680317	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41860620G>A	ENST00000243578.3	-	4	732	c.513C>T	c.(511-513)taC>taT	p.Y171Y	CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000539627.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	171					cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			large_intestine(1)|ovary(1)	2						ACTCCACGCCGTAGCGGTCGA	0.637													False	0	False	19:41860620	0	A	41860620	G	A	41860620	2	1	88	1	0	0	0	0	0	0	0	1	1282	1140	40	1		1	B9D2	19	41860620	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6332	41860620	17268363	18520	26232											
TMEM91	641649	broad.mit.edu	37	chr19	41884213	41884213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggagtttccccaaagCcatggacagccctagtcttc	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41884213C>T	ENST00000604123.1	+	2	175	c.170C>T	c.(169-171)gCc>gTc	p.A57V	TMEM91_ENST00000544232.1_5'UTR|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000356385.4_5'UTR|TMEM91_ENST00000447302.2_5'UTR|CTC-435M10.3_ENST00000540732.1_5'UTR|TMEM91_ENST00000392002.2_5'UTR|TMEM91_ENST00000542945.1_5'UTR|TMEM91_ENST00000436170.2_5'UTR|TMEM91_ENST00000413014.2_5'UTR|TMEM91_ENST00000539627.1_5'UTR					transmembrane protein 91											lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						TTCCCCAAAGCCATGGACAGC	0.547													False	0	False	19:41884213	0	T	41884213	C	T	41884213	3	4	88	1	0	0	0	0	1	0	0	0	16302	754	26	2	1	2	TMEM91	19	41884213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23593	41884213	17244770	18521	26233											
EXOSC5	56915	broad.mit.edu	37	chr19	41892608	41892608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgttgcgaagcggcctggGccgcagccaggcactgctgg	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41892608G>A	ENST00000221233.4	-	6	788	c.638C>T	c.(637-639)gCc>gTc	p.A213V	CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A175V	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	213					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AGCGGCCTGGGCCGCAGCCAG	0.652													False	0	True	19:41892608	0	A	41892608	G	A	41892608	3	1	88	1	0	0	0	0	1	0	0	0	5350	1203	42	2	73	2	EXOSC5	19	41892608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8395	41892608	17236375	18522	26234											
CEACAM21	90273	broad.mit.edu	37	chr19	42083774	42083774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactccagggcctgcatacaGcggtcgagagacaatatcac	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42083774G>T	ENST00000187608.9	+	2	327	c.287G>T	c.(286-288)aGc>aTc	p.S96I	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000401445.2_Missense_Mutation_p.S96I|CEACAM21_ENST00000407170.2_5'UTR	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	96						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCTGCATACAGCGGTCGAGAG	0.493													False	0	False	19:42083774	0	T	42083774	G	T	42083774	3	4	88	1	0	0	0	0	1	0	0	0	3215	971	34	3	293	3	CEACAM21	19	42083774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191166	42083774	17045209	18523	26235											
CEACAM4	1089	broad.mit.edu	37	chr19	42132106	42132106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattggggtatactgtctctCgaccactgtatgcggcccct	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42132106C>T	ENST00000221954.2	-	2	403	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CEACAM4_ENST00000600925.1_Missense_Mutation_p.R98Q	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	98	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TACTGTCTCTCGACCACTGTA	0.493													False	0	True	19:42132106	0	T	42132106	C	T	42132106	3	4	88	1	0	0	0	0	1	0	0	0	3217	884	31	1	465	1	CEACAM4	19	42132106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48332	42132106	16996877	18524	26236											
CEACAM7	1087	broad.mit.edu	37	chr19	42192088	42192088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatggacaggctgaaggggAccccatggtctctgctgcct	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42192088A>G	ENST00000006724.3	-	1	208	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P	CEACAM7_ENST00000602225.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000338196.4_Missense_Mutation_p.S3P|CEACAM7_ENST00000401731.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000599715.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	3						anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GCTGAAGGGGACCCCATGGTC	0.607													False	0	True	19:42192088	0	G	42192088	A	G	42192088	3	3	88	1	0	0	0	0	1	0	0	0	3220	275	10	4	806	4	CEACAM7	19	42192088	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	59982	42192088	16936895	18525	26237											
CEACAM5	1048	broad.mit.edu	37	chr19	42219576	42219576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttgctccagatggcccGgatgcccccaccatttcccc	8	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42219576G>A	ENST00000221992.6	+	4	825	c.711G>A	c.(709-711)ccG>ccA	p.P237P	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.P237P|CEACAM5_ENST00000405816.1_Silent_p.P237P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	237	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAGATGGCCCGGATGCCCCCA	0.507													False	0	True	19:42219576	0	A	42219576	G	A	42219576	2	1	88	1	0	0	0	0	0	0	0	1	3218	1103	39	1		1	CEACAM5	19	42219576	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27488	42219576	16909407	18526	26238											
CEACAM5	1048	broad.mit.edu	37	chr19	42222194	42222194	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaacacacacaagagcTctttatctccaacatcactg	4	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42222194T>A	ENST00000221992.6	+	6	1499	c.1385T>A	c.(1384-1386)cTc>cAc	p.L462H	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.L461H|CEACAM5_ENST00000405816.1_Missense_Mutation_p.L462H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	462	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACACAAGAGCTCTTTATCTCC	0.517													False	0	False	19:42222194	0	A	42222194	T	A	42222194	3	1	88	1	0	0	0	0	1	0	0	0	3218	1551	54	5	1407	5	CEACAM5	19	42222194	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2618	42222194	16906789	18527	26239											
CEACAM5	1048	broad.mit.edu	37	chr19	42223929	42223929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggccttcacctgtgaaCctgaggctcagaacacaacc	9	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42223929C>T	ENST00000221992.6	+	7	1687	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P524S|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P525S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	525	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CACCTGTGAACCTGAGGCTCA	0.567													False	0	False	19:42223929	0	T	42223929	C	T	42223929	3	4	88	1	0	0	0	0	1	0	0	0	3218	507	18	2	1599	2	CEACAM5	19	42223929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1735	42223929	16905054	18528	26240											
CEACAM6	4680	broad.mit.edu	37	chr19	42260853	42260853	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaagaagcaaccggacAgttccatgtataccgtgagt	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42260853A>G	ENST00000199764.6	+	2	628	c.410A>G	c.(409-411)cAg>cGg	p.Q137R	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	137	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GCAACCGGACAGTTCCATGTA	0.488													False	0	False	19:42260853	0	G	42260853	A	G	42260853	3	3	88	1	0	0	0	0	1	0	0	0	3219	188	7	4	416	4	CEACAM6	19	42260853	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36924	42260853	16868130	18529	26241											
CEACAM6	4680	broad.mit.edu	37	chr19	42266125	42266125	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtcacgatgatcacaGtctctggtaagtggatccat	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42266125G>T	ENST00000199764.6	+	4	1170	c.952G>T	c.(952-954)Gtc>Ttc	p.V318F	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	318					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GATGATCACAGTCTCTGGTAA	0.468													False	0	False	19:42266125	0	T	42266125	G	T	42266125	3	4	88	1	0	0	0	0	1	0	0	0	3219	1029	36	3	966	3	CEACAM6	19	42266125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5272	42266125	16862858	18530	26242											
CEACAM3	1084	broad.mit.edu	37	chr19	42301583	42301583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactattgaatccatgccgCtcagtgtcgcagaggggaag	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42301583C>T	ENST00000357396.3	+	2	368	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	CEACAM3_ENST00000344550.4_Missense_Mutation_p.L43F|CEACAM3_ENST00000221999.4_Missense_Mutation_p.L43F|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	43	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						ATCCATGCCGCTCAGTGTCGC	0.517													False	0	False	19:42301583	0	T	42301583	C	T	42301583	3	4	88	1	0	0	0	0	1	0	0	0	3216	797	28	2	133	2	CEACAM3	19	42301583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35458	42301583	16827400	18531	26243											
CEACAM3	1084	broad.mit.edu	37	chr19	42301744	42301744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccaggggccgcatacagCggtcgagagacaatatacac	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42301744C>T	ENST00000357396.3	+	2	529	c.288C>T	c.(286-288)agC>agT	p.S96S	CEACAM3_ENST00000344550.4_Silent_p.S96S|CEACAM3_ENST00000221999.4_Silent_p.S96S|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	96	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCGCATACAGCGGTCGAGAGA	0.463													False	0	False	19:42301744	0	T	42301744	C	T	42301744	2	4	88	1	0	0	0	0	0	0	0	1	3216	767	27	1		1	CEACAM3	19	42301744	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161	42301744	16827239	18532	26244											
LYPD4	147719	broad.mit.edu	37	chr19	42342046	42342046	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtggaactgtaacacgtagaAgcagccaaggggcaagaatt	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342046A>T	ENST00000330743.3	-	4	1712	c.501T>A	c.(499-501)gcT>gcA	p.A167A	LYPD4_ENST00000601246.1_Silent_p.A132A|LYPD4_ENST00000343055.4_Silent_p.A132A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	167	UPAR/Ly6.					anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AACACGTAGAAGCAGCCAAGG	0.488													False	0	False	19:42342046	0	T	42342046	A	T	42342046	2	4	88	1	0	0	0	0	0	0	0	1	9175	59	3	5		5	LYPD4	19	42342046	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40302	42342046	16786937	18533	26245											
LYPD4	147719	broad.mit.edu	37	chr19	42342146	42342146	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacaggacgcagatgtgataGacttaggagtgctggccttg	14	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342146G>T	ENST00000330743.3	-	4	1612	c.401C>A	c.(400-402)tCt>tAt	p.S134Y	LYPD4_ENST00000601246.1_Missense_Mutation_p.S99Y|LYPD4_ENST00000343055.4_Missense_Mutation_p.S99Y	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	134						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AGATGTGATAGACTTAGGAGT	0.522													False	0	False	19:42342146	0	T	42342146	G	T	42342146	3	4	88	1	0	0	0	0	1	0	0	0	9175	942	33	3	347	3	LYPD4	19	42342146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100	42342146	16786837	18534	26246											
LYPD4	147719	broad.mit.edu	37	chr19	42342983	42342983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaacactagcgtctcctcGcagccctcttgcagcttaca	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342983G>A	ENST00000330743.3	-	3	1394	c.183C>T	c.(181-183)tgC>tgT	p.C61C	LYPD4_ENST00000601246.1_Intron|LYPD4_ENST00000343055.4_Intron	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	61						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCGTCTCCTCGCAGCCCTCTT	0.493													False	0	False	19:42342983	0	A	42342983	G	A	42342983	2	1	88	1	0	0	0	0	0	0	0	1	9175	1079	38	1		1	LYPD4	19	42342983	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	837	42342983	16786000	18535	26247											
LYPD4	147719	broad.mit.edu	37	chr19	42343377	42343377	+	Translation_Start_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catggccctgtgtctgggtcCtgggtgctagaggtcagtct	15	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42343377C>A	ENST00000330743.3	-	0	1194				LYPD4_ENST00000601246.1_De_novo_Start_OutOfFrame	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4							anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						TGTCTGGGTCCTGGGTGCTAG	0.562													False	0	False	19:42343377	0	A	42343377	C	A	42343377	1	1	88	1	0	0	0	0	0	0	0	0	9175	696	24	3		3	LYPD4	19	42343377	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	394	42343377	16785606	18536	26248											
DMRTC2	63946	broad.mit.edu	37	chr19	42352907	42352907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatcccccggaagcctcGcccttgtcctggactccggt	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42352907G>A	ENST00000269945.3	+	5	543	c.492G>A	c.(490-492)tcG>tcA	p.S164S	DMRTC2_ENST00000596827.1_Silent_p.S164S	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	164	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CGGAAGCCTCGCCCTTGTCCT	0.647													False	0	True	19:42352907	0	A	42352907	G	A	42352907	2	1	88	1	0	0	0	0	0	0	0	1	4621	1074	38	1		1	DMRTC2	19	42352907	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9530	42352907	16776076	18537	26249											
ARHGEF1	0	broad.mit.edu	37	chr19	42396876	42396876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccagctacgaggcccgggaGcggcacgtggcggagcggct	19	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42396876G>T	ENST00000599846.1	+	7	695	c.570G>T	c.(568-570)gaG>gaT	p.E190D	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E205D|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.E190D|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E172D|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E157D			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	190	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGGCCCGGGAGCGGCACGTGG	0.701													False	0	False	19:42396876	0	T	42396876	G	T	42396876	3	4	88	1	0	0	0	0	1	0	0	0	895	962	34	3	641	3	ARHGEF1	19	42396876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43969	42396876	16732107	18538	26250											
ARHGEF1	0	broad.mit.edu	37	chr19	42406492	42406492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgaggagatcggagacGtgctgctggcccgggtgaga	17	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42406492G>A	ENST00000599846.1	+	17	1776	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.V510M|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.V495M|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.V477M|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.V462M			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	495	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GATCGGAGACGTGCTGCTGGC	0.647													False	0	False	19:42406492	0	A	42406492	G	A	42406492	3	1	88	1	0	0	0	0	1	0	0	0	895	1145	40	1	1590	1	ARHGEF1	19	42406492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9616	42406492	16722491	18539	26251											
ATP1A3	478	broad.mit.edu	37	chr19	42482344	42482344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcccaccgcgtcagggaCggctgcccggggtgggtcga	17	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42482344C>T	ENST00000545399.1	-	13	1957	c.1804G>A	c.(1804-1806)Gtc>Atc	p.V602I	ATP1A3_ENST00000602133.1_Missense_Mutation_p.V559I|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V589I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V600I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	589					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCGTCAGGGACGGCTGCCCGG	0.652													False	0	False	19:42482344	0	T	42482344	C	T	42482344	3	4	88	1	0	0	0	0	1	0	0	0	1134	536	19	1	1320	1	ATP1A3	19	42482344	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75852	42482344	16646639	18540	26252											
GRIK5	2901	broad.mit.edu	37	chr19	42546761	42546761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttgggctcgggcgccccGtacagcccatcctccaccaa	10	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42546761G>A	ENST00000262895.3	-	11	1415	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	GRIK5_ENST00000301218.4_Silent_p.Y472Y|GRIK5_ENST00000593562.1_Silent_p.Y472Y	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	472						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CGGGCGCCCCGTACAGCCCAT	0.677													False	0	True	19:42546761	0	A	42546761	G	A	42546761	2	1	88	1	0	0	0	0	0	0	0	1	6824	1140	40	1		1	GRIK5	19	42546761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64417	42546761	16582222	18541	26253											
ZNF574	64763	broad.mit.edu	37	chr19	42583614	42583614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatggtgaagccattgggCgggatcgccgggggcgcagg	20	9	0	1	rs148844955		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42583614C>T	ENST00000600245.1	+	2	1511	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R376W|ZNF574_ENST00000359044.4_Missense_Mutation_p.R286W			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AGCCATTGGGCGGGATCGCCG	0.637													False	0	True	19:42583614	0	T	42583614	C	T	42583614	3	4	88	1	0	0	0	0	1	0	0	0	18089	759	27	1	858	1	ZNF574	19	42583614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36853	42583614	16545369	18542	26254											
ZNF574	64763	broad.mit.edu	37	chr19	42585038	42585038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgcaccggcgcatccaCacaggtgagcggccataccc	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42585038C>T	ENST00000600245.1	+	2	2935	c.2280C>T	c.(2278-2280)caC>caT	p.H760H	ZNF574_ENST00000222339.7_Silent_p.H850H|ZNF574_ENST00000359044.4_Silent_p.H760H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGCGCATCCACACAGGTGAGC	0.647													False	0	True	19:42585038	0	T	42585038	C	T	42585038	2	4	88	1	0	0	0	0	0	0	0	1	18089	477	17	2		2	ZNF574	19	42585038	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1424	42585038	16543945	18543	26255											
ZNF574	64763	broad.mit.edu	37	chr19	42585196	42585196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcgcctggcagaacatcGccgcatccacacaggcgaac	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42585196G>A	ENST00000600245.1	+	2	3093	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	ZNF574_ENST00000222339.7_Missense_Mutation_p.R903H|ZNF574_ENST00000359044.4_Missense_Mutation_p.R813H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCAGAACATCGCCGCATCCAC	0.612													False	0	False	19:42585196	0	A	42585196	G	A	42585196	3	1	88	1	0	0	0	0	1	0	0	0	18089	1087	38	1	2440	1	ZNF574	19	42585196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158	42585196	16543787	18544	26256											
ZNF526	116115	broad.mit.edu	37	chr19	42729326	42729326	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggaggccatggcagaggtCggtgatgatgctgtgggagg	21	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42729326C>T	ENST00000301215.3	+	3	996	c.771C>T	c.(769-771)gtC>gtT	p.V257V		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGGCAGAGGTCGGTGATGATG	0.612													False	0	False	19:42729326	0	T	42729326	C	T	42729326	2	4	88	1	0	0	0	0	0	0	0	1	18050	871	31	1		1	ZNF526	19	42729326	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144130	42729326	16399657	18545	26257											
ERF	2077	broad.mit.edu	37	chr19	42752816	42752816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactccagcgccgcttaaagCgtagcttgaggggcatgcac	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42752816C>T	ENST00000222329.4	-	4	1605	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.R408H	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	483					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CCGCTTAAAGCGTAGCTTGAG	0.677													False	0	False	19:42752816	0	T	42752816	C	T	42752816	3	4	88	1	0	0	0	0	1	0	0	0	5253	768	27	1	202	1	ERF	19	42752816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23490	42752816	16376167	18546	26258											
ERF	2077	broad.mit.edu	37	chr19	42753023	42753023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggcggtggggctagcgccCctgccccctcagccagcccg	16	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753023C>A	ENST00000222329.4	-	4	1398	c.1241G>T	c.(1240-1242)gGg>gTg	p.G414V	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.G339V	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	414					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGCTAGCGCCCCTGCCCCCTC	0.692													False	0	True	19:42753023	0	A	42753023	C	A	42753023	3	1	88	1	0	0	0	0	1	0	0	0	5253	623	22	3	409	3	ERF	19	42753023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207	42753023	16375960	18547	26259											
ERF	2077	broad.mit.edu	37	chr19	42753278	42753278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtagtgcaggaaggcgCgggggctgaggtggtagttg	22	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753278C>T	ENST00000222329.4	-	4	1143	c.986G>A	c.(985-987)cGc>cAc	p.R329H	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.R254H	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	329					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CAGGAAGGCGCGGGGGCTGAG	0.682													False	0	True	19:42753278	0	T	42753278	C	T	42753278	3	4	88	1	0	0	0	0	1	0	0	0	5253	768	27	1	664	1	ERF	19	42753278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255	42753278	16375705	18548	26260											
ERF	2077	broad.mit.edu	37	chr19	42753347	42753347	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgtttcatgtcctcagggCtgaaggagaagtgggagcct	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753347C>A	ENST00000222329.4	-	4	1074	c.917G>T	c.(916-918)aGc>aTc	p.S306I	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.S231I	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	306					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTCCTCAGGGCTGAAGGAGAA	0.667													False	0	True	19:42753347	0	A	42753347	C	A	42753347	3	1	88	1	0	0	0	0	1	0	0	0	5253	797	28	3	733	3	ERF	19	42753347	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	42753347	16375636	18549	26261											
CIC	23152	broad.mit.edu	37	chr19	42792029	42792029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggaccgaaagaagtccaGctcagaggccaagcccacga	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42792029G>A	ENST00000572681.2	+	7	3628	c.3560G>A	c.(3559-3561)aGc>aAc	p.S1187N	CIC_ENST00000160740.3_Missense_Mutation_p.S278N|CIC_ENST00000575354.2_Missense_Mutation_p.S278N			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	278	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGAAGTCCAGCTCAGAGGCC	0.647			"Mis, F, S"		oligodendroglioma								False	0	False	19:42792029	0	A	42792029	G	A	42792029	3	1	88	1	0	0	0	0	1	0	0	0	3447	971	34	2	855	2	CIC	19	42792029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38682	42792029	16336954	18550	26262											
CIC	23152	broad.mit.edu	37	chr19	42795086	42795086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgcctgggggctccccGctgggtgtcagcttagtgta	17	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42795086G>A	ENST00000572681.2	+	11	4961	c.4893G>A	c.(4891-4893)ccG>ccA	p.P1631P	CIC_ENST00000160740.3_Silent_p.P722P|CIC_ENST00000575354.2_Silent_p.P722P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	722					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGGCTCCCCGCTGGGTGTCA	0.647			"Mis, F, S"		oligodendroglioma								False	0	True	19:42795086	0	A	42795086	G	A	42795086	2	1	88	1	0	0	0	0	0	0	0	1	3447	1074	38	1		1	CIC	19	42795086	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3057	42795086	16333897	18551	26263											
CIC	23152	broad.mit.edu	37	chr19	42797365	42797365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagacctggactcccacgGcccggagcagccccccactg	11	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42797365G>A	ENST00000572681.2	+	16	6516	c.6448G>A	c.(6448-6450)Gcc>Acc	p.A2150T	CIC_ENST00000160740.3_Missense_Mutation_p.A1241T|CIC_ENST00000575354.2_Missense_Mutation_p.A1243T			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACTCCCACGGCCCGGAGCAG	0.716			"Mis, F, S"		oligodendroglioma								False	0	True	19:42797365	0	A	42797365	G	A	42797365	3	1	88	1	0	0	0	0	1	0	0	0	3447	1203	42	2	3785	2	CIC	19	42797365	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2279	42797365	16331618	18552	26264											
CIC	23152	broad.mit.edu	37	chr19	42799146	42799146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccgccccccactggcaccGctgctgcccctgcccccact	7	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42799146G>A	ENST00000572681.2	+	21	7416	c.7348G>A	c.(7348-7350)Gct>Act	p.A2450T	CIC_ENST00000160740.3_Missense_Mutation_p.A1542T|CIC_ENST00000575354.2_Missense_Mutation_p.A1544T			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				cactggcaccgctgctgcccc	0.726			"Mis, F, S"		oligodendroglioma								False	0	False	19:42799146	0	A	42799146	G	A	42799146	3	1	88	1	0	0	0	0	1	0	0	0	3447	1087	38	1	4708	1	CIC	19	42799146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1781	42799146	16329837	18553	26265											
PAFAH1B3	5050	broad.mit.edu	37	chr19	42804140	42804140	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagcaccacaacccgggcCtggggctgtcgctcattcac	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42804140C>A	ENST00000538771.1	-	5	746	c.390G>T	c.(388-390)caG>caT	p.Q130H	PAFAH1B3_ENST00000262890.3_Missense_Mutation_p.Q130H	NM_001145939.1|NM_001145940.1	NP_001139411.1|NP_001139412.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	130					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				CAACCCGGGCCTGGGGCTGTC	0.587													False	0	False	19:42804140	0	A	42804140	C	A	42804140	3	1	88	1	0	0	0	0	1	0	0	0	11454	680	24	3	313	3	PAFAH1B3	19	42804140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4994	42804140	16324843	18554	26266											
MEGF8	1954	broad.mit.edu	37	chr19	42837896	42837896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgggagcacccgacctccGcccatcgaagcttcctcagg	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42837896G>A	ENST00000334370.4	+	2	962	c.327G>A	c.(325-327)ccG>ccA	p.P109P	MEGF8_ENST00000251268.6_Silent_p.P109P	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	109	CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCGACCTCCGCCCATCGAAG	0.582													False	0	True	19:42837896	0	A	42837896	G	A	42837896	2	1	88	1	0	0	0	0	0	0	0	1	9530	1074	38	1		1	MEGF8	19	42837896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33756	42837896	16291087	18555	26267											
MEGF8	1954	broad.mit.edu	37	chr19	42848687	42848687	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagcccctccacggggacCtggcaccctgggctggtgcg	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42848687C>A	ENST00000334370.4	+	11	2518	c.1883C>A	c.(1882-1884)cCt>cAt	p.P628H	MEGF8_ENST00000251268.6_Missense_Mutation_p.P628H	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	652						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCACGGGGACCTGGCACCCTG	0.711													False	0	False	19:42848687	0	A	42848687	C	A	42848687	3	1	88	1	0	0	0	0	1	0	0	0	9530	681	24	3	1925	3	MEGF8	19	42848687	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10791	42848687	16280296	18556	26268											
MEGF8	1954	broad.mit.edu	37	chr19	42857101	42857101	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttggaggactgtggccaTggtgtgtgcagtggcccccc	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42857101T>G	ENST00000334370.4	+	19	3806	c.3171T>G	c.(3169-3171)caT>caG	p.H1057Q	MEGF8_ENST00000251268.6_Missense_Mutation_p.H1124Q	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1124						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTGTGGCCATGGTGTGTGCA	0.682													False	0	False	19:42857101	0	G	42857101	T	G	42857101	3	3	88	1	0	0	0	0	1	0	0	0	9530	1461	51	4	3245	4	MEGF8	19	42857101	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8414	42857101	16271882	18557	26269											
MEGF8	1954	broad.mit.edu	37	chr19	42858175	42858175	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacagcagcaccccctgcaCggtgagcactgaggaaacga	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42858175C>T	ENST00000334370.4	+	21	4444	c.3809C>T	c.(3808-3810)aCg>aTg	p.T1270M	MEGF8_ENST00000251268.6_Splice_Site_p.T1337M	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1337	CUB 2.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACCCCCTGCACGGTGAGCACT	0.622													False	0	False	19:42858175	0	T	42858175	C	T	42858175	5	4	88	1	0	0	0	0	0	0	1	0	9530	550	19	1	3891	1	MEGF8	19	42858175	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1074	42858175	16270808	18558	26270											
MEGF8	1954	broad.mit.edu	37	chr19	42863068	42863068	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctgctcttgctggtacaGgaggtttcctggaggaaatc	15	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42863068G>T	ENST00000334370.4	+	29	5739	c.5104G>T	c.(5104-5106)Gga>Tga	p.G1702*	MEGF8_ENST00000251268.6_Nonsense_Mutation_p.G1769*	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1769						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGCTGGTACAGGAGGTTTCCT	0.572													False	0	False	19:42863068	0	T	42863068	G	T	42863068	4	4	88	1	0	0	0	0	0	1	0	0	9530	1001	35	3	5218	3	MEGF8	19	42863068	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4893	42863068	16265915	18559	26271											
MEGF8	1954	broad.mit.edu	37	chr19	42866638	42866638	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgactgtcggatcaaccagCgagaggtcttctgggcaggg	15	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42866638C>T	ENST00000334370.4	+	33	6381	c.5746C>T	c.(5746-5748)Cga>Tga	p.R1916*	MEGF8_ENST00000251268.6_Nonsense_Mutation_p.R1983*	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1983	PSI 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GATCAACCAGCGAGAGGTCTT	0.627													False	0	False	19:42866638	0	T	42866638	C	T	42866638	4	4	88	1	0	0	0	0	0	1	0	0	9530	760	27	1	5876	1	MEGF8	19	42866638	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3570	42866638	16262345	18560	26272											
MEGF8	1954	broad.mit.edu	37	chr19	42867301	42867301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggtggaatcatcacccCcactgccctgccccacccct	7	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42867301C>T	ENST00000334370.4	+	34	6594	c.5959C>T	c.(5959-5961)Cca>Tca	p.P1987S	MEGF8_ENST00000251268.6_Missense_Mutation_p.P2054S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2054						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ATCATCACCCCCACTGCCCTG	0.622													False	0	True	19:42867301	0	T	42867301	C	T	42867301	3	4	88	1	0	0	0	0	1	0	0	0	9530	623	22	2	6093	2	MEGF8	19	42867301	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	663	42867301	16261682	18561	26273											
MEGF8	1954	broad.mit.edu	37	chr19	42874461	42874461	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatctccaggaaggagTtacaaatgtccaagggagag	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42874461T>C	ENST00000334370.4	+	38	7389	c.6754T>C	c.(6754-6756)Tta>Cta	p.L2252L	MEGF8_ENST00000251268.6_Silent_p.L2319L|MEGF8_ENST00000378073.4_5'UTR	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2319						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGGAAGGAGTTACAAATGTC	0.592													False	0	False	19:42874461	0	C	42874461	T	C	42874461	2	2	88	1	0	0	0	0	0	0	0	1	9530	1722	60	4		4	MEGF8	19	42874461	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7160	42874461	16254522	18562	26274											
MEGF8	1954	broad.mit.edu	37	chr19	42880264	42880264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggagacccaagtgggccCggcgccaacggctcagccga	16	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42880264C>T	ENST00000334370.4	+	41	8309	c.7674C>T	c.(7672-7674)ccC>ccT	p.P2558P	MEGF8_ENST00000251268.6_Silent_p.P2625P|MEGF8_ENST00000378073.4_Silent_p.P219P	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2625	Pro-rich.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAAGTGGGCCCGGCGCCAACG	0.637													False	0	True	19:42880264	0	T	42880264	C	T	42880264	2	4	88	1	0	0	0	0	0	0	0	1	9530	639	23	1		1	MEGF8	19	42880264	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5803	42880264	16248719	18563	26275											
LIPE	3991	broad.mit.edu	37	chr19	42910490	42910490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagccacggtgaagcagaGgttcccgcctgcactgtccc	12	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42910490G>T	ENST00000244289.4	-	7	2464	c.2188C>A	c.(2188-2190)Ctc>Atc	p.L730I	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	730					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GTGAAGCAGAGGTTCCCGCCT	0.657													False	0	False	19:42910490	0	T	42910490	G	T	42910490	3	4	88	1	0	0	0	0	1	0	0	0	8874	1000	35	3	1058	3	LIPE	19	42910490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30226	42910490	16218493	18564	26276											
LIPE	3991	broad.mit.edu	37	chr19	42911420	42911420	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaggggccagggagtagtcGatggagatgatgggggcgcc	20	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42911420G>A	ENST00000244289.4	-	6	2319	c.2043C>T	c.(2041-2043)atC>atT	p.I681I	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	681					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGGAGTAGTCGATGGAGATGA	0.662													False	0	False	19:42911420	0	A	42911420	G	A	42911420	2	1	88	1	0	0	0	0	0	0	0	1	8874	1048	37	1		1	LIPE	19	42911420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	930	42911420	16217563	18565	26277											
PSG3	5671	broad.mit.edu	37	chr19	43233933	43233933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaaaagatactcacagaGgacattcagggtgactgggt	12	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43233933G>A	ENST00000327495.5	-	4	1169	c.985C>T	c.(985-987)Ctc>Ttc	p.L329F	PSG3_ENST00000595140.1_Missense_Mutation_p.L329F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	329					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TACTCACAGAGGACATTCAGG	0.488													False	0	False	19:43233933	0	A	43233933	G	A	43233933	3	1	88	1	0	0	0	0	1	0	0	0	12732	1000	35	2	313	2	PSG3	19	43233933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	322513	43233933	15895050	18566	26278											
PSG8	0	broad.mit.edu	37	chr19	43258660	43258660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccggtgggttagagtcCgcagaacaggacaagtagag	16	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43258660C>T	ENST00000404209.4	-	5	1164	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	PSG8_ENST00000406636.3_Silent_p.A234A|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Silent_p.A263A|PSG8_ENST00000306511.4_Silent_p.A356A	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	356	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGTTAGAGTCCGCAGAACAGG	0.453													False	0	False	19:43258660	0	T	43258660	C	T	43258660	2	4	88	1	0	0	0	0	0	0	0	1	12737	639	23	1		1	PSG8	19	43258660	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24727	43258660	15870323	18567	26279											
PSG8	0	broad.mit.edu	37	chr19	43259290	43259290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccctgggactgaccgggaGgctctgaccatttagccacc	11	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43259290G>A	ENST00000404209.4	-	4	934	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	PSG8_ENST00000406636.3_Missense_Mutation_p.L158F|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L187F|PSG8_ENST00000306511.4_Missense_Mutation_p.L280F	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	280	Ig-like C2-type 2.					extracellular region		p.L280I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTGACCGGGAGGCTCTGACCA	0.448													False	0	False	19:43259290	0	A	43259290	G	A	43259290	3	1	88	1	0	0	0	0	1	0	0	0	12737	1000	35	2	471	2	PSG8	19	43259290	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	630	43259290	15869693	18568	26280											
PSG8	0	broad.mit.edu	37	chr19	43359721	43359721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcacctgtgagcaggacCcccttccatttgatgtgctg	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43359721C>T	ENST00000401467.2	-	1	122	c.51G>A	c.(49-51)ggG>ggA	p.G17G	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	17						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGAGCAGGACCCCCTTCCATT	0.567													False	0	True	19:43359721	0	T	43359721	C	T	43359721	2	4	88	1	0	0	0	0	0	0	0	1	12737	638	22	2		2	PSG8	19	43359721	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100431	43359721	15769262	18569	26281											
PSG1	0	broad.mit.edu	37	chr19	43372352	43372352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctttgtagtaatatggcGgataaagagcttttgtcctg	11	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43372352G>A	ENST00000244296.2	-	5	1281	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	PSG1_ENST00000595124.1_Missense_Mutation_p.R289C|PSG1_ENST00000403380.3_Missense_Mutation_p.R289C|PSG1_ENST00000312439.6_Missense_Mutation_p.R382C|PSG1_ENST00000595356.1_Missense_Mutation_p.R382C|PSG1_ENST00000436291.2_Missense_Mutation_p.R382C	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GTAATATGGCGGATAAAGAGC	0.463													False	0	False	19:43372352	0	A	43372352	G	A	43372352	3	1	88	1	0	0	0	0	1	0	0	0	12729	1116	39	1	176	1	PSG1	19	43372352	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12631	43372352	15756631	18570	26282											
PSG1	0	broad.mit.edu	37	chr19	43372370	43372370	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggataaagagcttttgtcCtggtagctgaaacttttcat	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43372370C>A	ENST00000244296.2	-	5	1263	c.1126G>T	c.(1126-1128)Gga>Tga	p.G376*	PSG1_ENST00000595124.1_Nonsense_Mutation_p.G283*|PSG1_ENST00000403380.3_Nonsense_Mutation_p.G283*|PSG1_ENST00000312439.6_Nonsense_Mutation_p.G376*|PSG1_ENST00000595356.1_Nonsense_Mutation_p.G376*|PSG1_ENST00000436291.2_Nonsense_Mutation_p.G376*	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGCTTTTGTCCTGGTAGCTGA	0.453													False	0	False	19:43372370	0	A	43372370	C	A	43372370	4	1	88	1	0	0	0	0	0	1	0	0	12729	690	24	3	194	3	PSG1	19	43372370	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	43372370	15756613	18571	26283											
PSG11	5680	broad.mit.edu	37	chr19	43519460	43519460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttgcgaagcaggacaagtCgaggttctctcctgaatagt	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43519460C>T	ENST00000401740.1	-	4	875	c.772G>A	c.(772-774)Gac>Aac	p.D258N	PSG11_ENST00000403486.1_Missense_Mutation_p.D136N|PSG11_ENST00000320078.7_Missense_Mutation_p.D258N|PSG11_ENST00000306322.7_Missense_Mutation_p.D136N			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	258	Ig-like C2-type 2.				female pregnancy	extracellular region		p.D258Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CAGGACAAGTCGAGGTTCTCT	0.448													False	0	False	19:43519460	0	T	43519460	C	T	43519460	3	4	88	1	0	0	0	0	1	0	0	0	12730	884	31	1	243	1	PSG11	19	43519460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147090	43519460	15609523	18572	26284											
PSG5	5673	broad.mit.edu	37	chr19	43679390	43679390	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agacttcgactgtcatggatTtggagctttccttgccagta	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43679390T>G	ENST00000404580.1	-	4	1029	c.941A>C	c.(940-942)aAa>aCa	p.K314T	PSG5_ENST00000366175.3_Missense_Mutation_p.K314T|PSG5_ENST00000342951.6_Missense_Mutation_p.K314T|PSG5_ENST00000599812.1_Missense_Mutation_p.K407T|PSG5_ENST00000407356.1_Missense_Mutation_p.K314T|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	314	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGTCATGGATTTGGAGCTTTC	0.458													False	0	True	19:43679390	0	G	43679390	T	G	43679390	3	3	88	1	0	0	0	0	1	0	0	0	12734	1841	64	4	74	4	PSG5	19	43679390	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	159930	43679390	15449593	18573	26285											
PSG5	5673	broad.mit.edu	37	chr19	43689108	43689108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatatatatttatttgacCgtctactacatatgatgtaa	4	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43689108C>T	ENST00000404580.1	-	2	344	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	PSG5_ENST00000366175.3_Missense_Mutation_p.G86S|PSG5_ENST00000342951.6_Missense_Mutation_p.G86S|PSG5_ENST00000599812.1_Missense_Mutation_p.G86S|PSG5_ENST00000407356.1_Missense_Mutation_p.G86S|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Missense_Mutation_p.G86S			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	86	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTTATTTGACCGTCTACTACA	0.438													False	0	False	19:43689108	0	T	43689108	C	T	43689108	3	4	88	1	0	0	0	0	1	0	0	0	12734	652	23	1	767	1	PSG5	19	43689108	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9718	43689108	15439875	18574	26286											
PSG4	5672	broad.mit.edu	37	chr19	43698728	43698728	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgaatgaagggtaaatgCtggggaggtctggaccatct	16	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43698728C>A	ENST00000405312.3	-	5	1244	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	PSG4_ENST00000433626.2_Missense_Mutation_p.S243I|PSG4_ENST00000244295.9_Missense_Mutation_p.S243I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	336	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGGTAAATGCTGGGGAGGTC	0.483													False	0	False	19:43698728	0	A	43698728	C	A	43698728	3	1	88	1	0	0	0	0	1	0	0	0	12733	797	28	3	260	3	PSG4	19	43698728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9620	43698728	15430255	18575	26287											
PSG9	5678	broad.mit.edu	37	chr19	43763286	43763286	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtaggggatgggcagcttCgctgtgtggataacagagag	17	5	0	1	rs4028446		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43763286C>T	ENST00000418820.2	-	3	530	c.432G>A	c.(430-432)tcG>tcA	p.S144S	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000443718.3_Splice_Site_p.S144S|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Splice_Site_p.P237P|PSG9_ENST00000593948.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	144	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGGA	0.493													False	0	False	19:43763286	0	T	43763286	C	T	43763286	5	4	88	1	0	0	0	0	0	0	1	0	12738	898	31	1	581	1	PSG9	19	43763286	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64558	43763286	15365697	18576	26288											
PSG9	5678	broad.mit.edu	37	chr19	43766205	43766205	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggtagcttgcgtccagagtCtcaggatcacagattaagcg	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43766205C>T	ENST00000244293.7	-	3	582	c.516G>A	c.(514-516)gaG>gaA	p.E172E	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Silent_p.E172E|PSG9_ENST00000593948.1_Silent_p.E172E			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	172	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CGTCCAGAGTCTCAGGATCAC	0.527													False	0	False	19:43766205	0	T	43766205	C	T	43766205	2	4	88	1	0	0	0	0	0	0	0	1	12738	912	32	2		2	PSG9	19	43766205	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2919	43766205	15362778	18577	26289											
CD177	57126	broad.mit.edu	37	chr19	43858420	43858420	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggaccaggagccccgCgtcactgagcaccggatggg	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43858420C>T	ENST00000378009.4	+	0	297				CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				AGGAGCCCCGCGTCACTGAGC	0.647													False	0	False	19:43858420	0	T	43858420	C	T	43858420	1	4	88	0	1	0	0	0	0	0	0	0	2994	755	27	1		1	CD177	19	43858420	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92215	43858420	15270563	18578	26290											
CD177	57126	broad.mit.edu	37	chr19	43858441	43858441	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcactgagcaccggatgggCcccggcctctccctgatctc	11	17	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43858441C>A	ENST00000378009.4	+	0	318				CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACCGGATGGGCCCCGGCCTCT	0.657													False	0	True	19:43858441	0	A	43858441	C	A	43858441	1	1	88	0	1	0	0	0	0	0	0	0	2994	726	26	3		3	CD177	19	43858441	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	43858441	15270542	18579	26291											
PHLDB3	653583	broad.mit.edu	37	chr19	43998922	43998922	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcggagtgggccacggcatCctggagcaccagcagctggc	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43998922C>A	ENST00000292140.5	-	9	1441	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	361										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GCCACGGCATCCTGGAGCACC	0.612													False	0	False	19:43998922	0	A	43998922	C	A	43998922	3	1	88	1	0	0	0	0	1	0	0	0	11922	855	30	3	873	3	PHLDB3	19	43998922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140481	43998922	15130061	18580	26292											
ETHE1	23474	broad.mit.edu	37	chr19	44015646	44015646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcatctccagtgaaggCcatgctgtggtcattcagga	13	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44015646C>T	ENST00000600651.1	-	4	471	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	ETHE1_ENST00000292147.2_Missense_Mutation_p.A150T			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	150						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				CCAGTGAAGGCCATGCTGTGG	0.572													False	0	False	19:44015646	0	T	44015646	C	T	44015646	3	4	88	1	0	0	0	0	1	0	0	0	5304	739	26	2	332	2	ETHE1	19	44015646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16724	44015646	15113337	18581	26293											
XRCC1	7515	broad.mit.edu	37	chr19	44056975	44056975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctcttgggaacagatggcGacagctgggctggtggtttg	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44056975G>A	ENST00000262887.5	-	8	1344	c.797C>T	c.(796-798)tCg>tTg	p.S266L	XRCC1_ENST00000543982.1_Missense_Mutation_p.S235L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	266					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AACAGATGGCGACAGCTGGGC	0.562								Other BER factors					False	0	False	19:44056975	0	A	44056975	G	A	44056975	3	1	88	1	0	0	0	0	1	0	0	0	17536	1059	37	1	1144	1	XRCC1	19	44056975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41329	44056975	15072008	18582	26294											
IRGQ	126298	broad.mit.edu	37	chr19	44097296	44097296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaccgaagcaggcgcagCgcctgggtcgccaggatcca	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44097296C>T	ENST00000422989.1	-	3	909	c.754G>A	c.(754-756)Gct>Act	p.A252T	IRGQ_ENST00000602269.1_Missense_Mutation_p.A252T	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	252							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCAGGCGCAGCGCCTGGGTCG	0.692													False	0	False	19:44097296	0	T	44097296	C	T	44097296	3	4	88	1	0	0	0	0	1	0	0	0	7889	768	27	1	1121	1	IRGQ	19	44097296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40321	44097296	15031687	18583	26295											
ZNF576	79177	broad.mit.edu	37	chr19	44101344	44101344	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagagcccaggaggcaacatCtgtgagtacacatggctggc	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44101344C>T	ENST00000336564.4	+	2	238	c.84C>T	c.(82-84)atC>atT	p.I28I	ZNF576_ENST00000391965.2_Splice_Site_p.I28I|SRRM5_ENST00000526798.1_5'UTR|ZNF576_ENST00000533118.1_Splice_Site_p.I28I|ZNF576_ENST00000529930.1_Splice_Site_p.I28I|SRRM5_ENST00000607544.1_5'UTR|ZNF576_ENST00000528387.1_Splice_Site_p.I28I|ZNF576_ENST00000525771.1_Splice_Site_p.I28I	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				GAGGCAACATCTGTGAGTACA	0.577													False	0	False	19:44101344	0	T	44101344	C	T	44101344	5	4	88	1	0	0	0	0	0	0	1	0	18091	927	32	2	86	2	ZNF576	19	44101344	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4048	44101344	15027639	18584	26296											
KCNN4	3783	broad.mit.edu	37	chr19	44278573	44278573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcatggccagggacaGcagcgcttccccttggccca	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44278573G>A	ENST00000262888.3	-	3	849	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	152					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GCCAGGGACAGCAGCGCTTCC	0.731											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:44278573	0	A	44278573	G	A	44278573	2	1	88	1	0	0	0	0	0	0	0	1	8131	962	34	2		2	KCNN4	19	44278573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177229	44278573	14850410	18585	26297											
KCNN4	3783	broad.mit.edu	37	chr19	44285001	44285001	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcccccaggccaagcaccaGatccccgcccatggcccccg	10	22	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44285001G>A	ENST00000262888.3	-	1	408	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	5					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CCAAGCACCAGATCCCCGCCC	0.687													False	0	False	19:44285001	0	A	44285001	G	A	44285001	2	1	88	1	0	0	0	0	0	0	0	1	8131	933	33	2		2	KCNN4	19	44285001	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6428	44285001	14843982	18586	26298											
ZNF45	7596	broad.mit.edu	37	chr19	44418337	44418337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttaccacatgcatcacaCtgatacggtttctctccagt	5	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44418337C>T	ENST00000269973.5	-	10	2341	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	ZNF45_ENST00000589703.1_Silent_p.Q417Q|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	417					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATGCATCACACTGATACGGTT	0.468													False	0	False	19:44418337	0	T	44418337	C	T	44418337	2	4	88	1	0	0	0	0	0	0	0	1	18004	564	20	2		2	ZNF45	19	44418337	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133336	44418337	14710646	18587	26299											
ZNF221	7638	broad.mit.edu	37	chr19	44470613	44470613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatgtggtaagagcttccGtgttagatcaagacttaata	9	5	1	3	rs140615014		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44470613G>A	ENST00000251269.5	+	6	1287	c.959G>A	c.(958-960)cGt>cAt	p.R320H	ZNF221_ENST00000592350.1_Missense_Mutation_p.R320H|ZNF221_ENST00000587682.1_Missense_Mutation_p.R320H	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AAGAGCTTCCGTGTTAGATCA	0.413													False	0	False	19:44470613	0	A	44470613	G	A	44470613	3	1	88	1	0	0	0	0	1	0	0	0	17858	1145	40	1	973	1	ZNF221	19	44470613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52276	44470613	14658370	18588	26300											
ZNF221	7638	broad.mit.edu	37	chr19	44471258	44471258	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactggagaaaagctatacaAatgtgagcagtgtgagaagg	13	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44471258A>C	ENST00000251269.5	+	6	1932	c.1604A>C	c.(1603-1605)aAa>aCa	p.K535T	ZNF221_ENST00000592350.1_Missense_Mutation_p.K535T|ZNF221_ENST00000587682.1_Missense_Mutation_p.K535T	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AAGCTATACAAATGTGAGCAG	0.433													False	0	True	19:44471258	0	C	44471258	A	C	44471258	3	2	88	1	0	0	0	0	1	0	0	0	17858	14	1	4	1618	4	ZNF221	19	44471258	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	645	44471258	14657725	18589	26301											
ZNF155	7711	broad.mit.edu	37	chr19	44501451	44501451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taagagactccactgccagaAaaaaccattcaaatgtgagg	8	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44501451A>C	ENST00000270014.2	+	5	1570	c.1442A>C	c.(1441-1443)aAa>aCa	p.K481T	ZNF155_ENST00000407951.2_Missense_Mutation_p.K492T|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.K481T|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	481						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CACTGCCAGAAAAAACCATTC	0.453													False	0	True	19:44501451	0	C	44501451	A	C	44501451	3	2	88	1	0	0	0	0	1	0	0	0	17819	14	1	4	1456	4	ZNF155	19	44501451	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30193	44501451	14627532	18590	26302											
ZNF230	7773	broad.mit.edu	37	chr19	44514566	44514566	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaggtgatgtcccctcccaGgttgaggcaggactatctat	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44514566G>T	ENST00000429154.2	+	5	603	c.375G>T	c.(373-375)caG>caT	p.Q125H		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	125	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TCCCCTCCCAGGTTGAGGCAG	0.438													False	0	False	19:44514566	0	T	44514566	G	T	44514566	3	4	88	1	0	0	0	0	1	0	0	0	17867	991	35	3	389	3	ZNF230	19	44514566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13115	44514566	14614417	18591	26303											
ZNF230	7773	broad.mit.edu	37	chr19	44515396	44515396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgtgggaagagctttaGccgggcttcaagtattttga	14	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44515396G>A	ENST00000429154.2	+	5	1433	c.1205G>A	c.(1204-1206)aGc>aAc	p.S402N		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AAGAGCTTTAGCCGGGCTTCA	0.443													False	0	False	19:44515396	0	A	44515396	G	A	44515396	3	1	88	1	0	0	0	0	1	0	0	0	17867	971	34	2	1219	2	ZNF230	19	44515396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	830	44515396	14613587	18592	26304											
ZNF224	7767	broad.mit.edu	37	chr19	44605038	44605038	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgctcagaggaagctgtatCgagatgtgatgctggagaac	14	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44605038C>T	ENST00000336976.6	+	4	354	c.100C>T	c.(100-102)Cga>Tga	p.R34*		NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	34	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAAGCTGTATCGAGATGTGAT	0.537													False	0	False	19:44605038	0	T	44605038	C	T	44605038	4	4	88	1	0	0	0	0	0	1	0	0	17861	876	31	1	106	1	ZNF224	19	44605038	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89642	44605038	14523945	18593	26305											
ZNF224	7767	broad.mit.edu	37	chr19	44612103	44612103	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactggagaaaagccatacaAatgtgatgagtgtgggaagg	14	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44612103A>C	ENST00000336976.6	+	6	2044	c.1790A>C	c.(1789-1791)aAa>aCa	p.K597T	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	597					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AAGCCATACAAATGTGATGAG	0.463													False	0	True	19:44612103	0	C	44612103	A	C	44612103	3	2	88	1	0	0	0	0	1	0	0	0	17861	14	1	4	1804	4	ZNF224	19	44612103	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7065	44612103	14516880	18594	26306											
ZNF225	7768	broad.mit.edu	37	chr19	44622685	44622685	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcctaaaggaagaaaagTtttggatgatggagacagca	11	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44622685T>G	ENST00000592780.1	+	4	414	c.193T>G	c.(193-195)Ttt>Gtt	p.F65V	ZNF225_ENST00000262894.6_Missense_Mutation_p.F65V|ZNF225_ENST00000590612.1_Missense_Mutation_p.F65V			Q9UK10	ZN225_HUMAN	zinc finger protein 225	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GGAAGAAAAGTTTTGGATGAT	0.428													False	0	True	19:44622685	0	G	44622685	T	G	44622685	3	3	88	1	0	0	0	0	1	0	0	0	17862	1725	60	4	203	4	ZNF225	19	44622685	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10582	44622685	14506298	18595	26307											
ZNF225	7768	broad.mit.edu	37	chr19	44636026	44636026	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaacgttattctcaccagaGagcgcacagtggagaaaagc	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636026G>T	ENST00000262894.6	+	5	1539	c.1259G>T	c.(1258-1260)aGa>aTa	p.R420I	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.R420I	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TCTCACCAGAGAGCGCACAGT	0.453													False	0	True	19:44636026	0	T	44636026	G	T	44636026	3	4	88	1	0	0	0	0	1	0	0	0	17862	942	33	3	1273	3	ZNF225	19	44636026	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13341	44636026	14492957	18596	26308											
ZNF225	7768	broad.mit.edu	37	chr19	44636174	44636174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagctttggctgggcctcGtgtcttttgaatcatcagag	12	8	3	3	rs145291466	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636174G>A	ENST00000262894.6	+	5	1687	c.1407G>A	c.(1405-1407)tcG>tcA	p.S469S	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Silent_p.S469S	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GCTGGGCCTCGTGTCTTTTGA	0.413													False	0	False	19:44636174	0	A	44636174	G	A	44636174	2	1	88	1	0	0	0	0	0	0	0	1	17862	1132	40	1		1	ZNF225	19	44636174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148	44636174	14492809	18597	26309											
ZNF225	7768	broad.mit.edu	37	chr19	44636716	44636716	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagactccacagtagagaaaAactacttcaatgtgaggact	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636716A>C	ENST00000262894.6	+	5	2229	c.1949A>C	c.(1948-1950)aAa>aCa	p.K650T	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.K650T	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K650T(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGTAGAGAAAAACTACTTCAA	0.438													False	0	True	19:44636716	0	C	44636716	A	C	44636716	3	2	88	1	0	0	0	0	1	0	0	0	17862	14	1	4	1963	4	ZNF225	19	44636716	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	542	44636716	14492267	18598	26310											
ZNF234	10780	broad.mit.edu	37	chr19	44660497	44660497	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctggaaacagattgcaagtGatttaatcaagtatgaagac	9	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44660497G>T	ENST00000426739.2	+	6	586	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	ZNF234_ENST00000592437.1_Missense_Mutation_p.D110Y	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	110	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GATTGCAAGTGATTTAATCAA	0.448													False	0	False	19:44660497	0	T	44660497	G	T	44660497	3	4	88	1	0	0	0	0	1	0	0	0	17870	1290	45	3	342	3	ZNF234	19	44660497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23781	44660497	14468486	18599	26311											
ZNF234	10780	broad.mit.edu	37	chr19	44661008	44661008	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccatcttcaggaacatcagaGaattcatactggggagaaac	9	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44661008G>T	ENST00000426739.2	+	6	1097	c.839G>T	c.(838-840)aGa>aTa	p.R280I	ZNF234_ENST00000592437.1_Missense_Mutation_p.R280I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GAACATCAGAGAATTCATACT	0.418													False	0	False	19:44661008	0	T	44661008	G	T	44661008	3	4	88	1	0	0	0	0	1	0	0	0	17870	942	33	3	853	3	ZNF234	19	44661008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	511	44661008	14467975	18600	26312											
ZNF226	7769	broad.mit.edu	37	chr19	44680638	44680638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcggaattcacatcttcaatCccatcaaagagttcatacag	5	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44680638C>T	ENST00000590089.1	+	7	1590	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	ZNF226_ENST00000454662.2_Missense_Mutation_p.S408F|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S408F			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CATCTTCAATCCCATCAAAGA	0.443													False	0	True	19:44680638	0	T	44680638	C	T	44680638	3	4	88	1	0	0	0	0	1	0	0	0	17863	855	30	2	1291	2	ZNF226	19	44680638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19630	44680638	14448345	18601	26313											
ZNF227	7770	broad.mit.edu	37	chr19	44740976	44740976	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtccatactggtaaaaAgctttagaaatgagaaatgt	9	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44740976A>C	ENST00000313040.7	+	6	2598	c.2393A>C	c.(2392-2394)aAg>aCg	p.K798T	ZNF227_ENST00000391961.2_Missense_Mutation_p.K747T|ZNF235_ENST00000589799.1_Intron|ZNF227_ENST00000589005.1_Missense_Mutation_p.K747T	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ACTGGTAAAAAGCTTTAGAAA	0.393													False	0	True	19:44740976	0	C	44740976	A	C	44740976	3	2	88	1	0	0	0	0	1	0	0	0	17864	72	3	4	2407	4	ZNF227	19	44740976	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	60338	44740976	14388007	18602	26314											
ZNF233	353355	broad.mit.edu	37	chr19	44778193	44778193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaggtatgtgataagggCttcagtaaggcctcaaatct	12	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44778193C>T	ENST00000391958.2	+	5	1507	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	ZNF233_ENST00000334152.1_Silent_p.G442G|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTGATAAGGGCTTCAGTAAGG	0.418													False	0	True	19:44778193	0	T	44778193	C	T	44778193	2	4	88	1	0	0	0	0	0	0	0	1	17869	784	28	2		2	ZNF233	19	44778193	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37217	44778193	14350790	18603	26315											
ZNF235	9310	broad.mit.edu	37	chr19	44791924	44791924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgattgtgaagattcaagCtccaattgaagcgcttccca	9	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44791924C>A	ENST00000291182.4	-	5	1766	c.1664G>T	c.(1663-1665)aGc>aTc	p.S555I	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AAGATTCAAGCTCCAATTGAA	0.443													False	0	False	19:44791924	0	A	44791924	C	A	44791924	3	1	88	1	0	0	0	0	1	0	0	0	17871	797	28	3	556	3	ZNF235	19	44791924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13731	44791924	14337059	18604	26316											
ZNF235	9310	broad.mit.edu	37	chr19	44792320	44792320	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctctccagtgtgaattCtttcatgggcctgaagatgt	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44792320C>A	ENST00000291182.4	-	5	1370	c.1268G>T	c.(1267-1269)aGa>aTa	p.R423I	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AGTGTGAATTCTTTCATGGGC	0.423													False	0	True	19:44792320	0	A	44792320	C	A	44792320	3	1	88	1	0	0	0	0	1	0	0	0	17871	913	32	3	952	3	ZNF235	19	44792320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396	44792320	14336663	18605	26317											
ZNF229	7772	broad.mit.edu	37	chr19	44932978	44932978	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctaaagccctttccgcactCttggcatctgtaaggtttct	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44932978C>A	ENST00000291187.4	-	6	2282	c.1960G>T	c.(1960-1962)Gag>Tag	p.E654*	ZNF229_ENST00000588931.1_Nonsense_Mutation_p.E660*|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTTCCGCACTCTTGGCATCTG	0.498													False	0	False	19:44932978	0	A	44932978	C	A	44932978	4	1	88	1	0	0	0	0	0	1	0	0	17865	922	32	3	503	3	ZNF229	19	44932978	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140658	44932978	14196005	18606	26318											
ZNF229	7772	broad.mit.edu	37	chr19	44934204	44934204	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgatgaagtacagagtttTtaatgcagtcttttctgcat	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44934204T>G	ENST00000291187.4	-	6	1056	c.734A>C	c.(733-735)aAa>aCa	p.K245T	ZNF229_ENST00000588931.1_Missense_Mutation_p.K251T|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TACAGAGTTTTTAATGCAGTC	0.433													False	0	True	19:44934204	0	G	44934204	T	G	44934204	3	3	88	1	0	0	0	0	1	0	0	0	17865	1841	64	4	1729	4	ZNF229	19	44934204	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1226	44934204	14194779	18607	26319											
ZNF180	7733	broad.mit.edu	37	chr19	44982351	44982351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaatctttttttccaactGcagttgccaagtctgaaaga	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44982351G>A	ENST00000221327.4	-	5	628	c.347C>T	c.(346-348)gCa>gTa	p.A116V	ZNF180_ENST00000391956.4_Missense_Mutation_p.A91V|ZNF180_ENST00000592529.1_Missense_Mutation_p.A89V|ZNF180_ENST00000586637.1_Silent_p.C125C|ZNF180_ENST00000587047.1_3'UTR	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	116	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTTCCAACTGCAGTTGCCAA	0.323													False	0	False	19:44982351	0	A	44982351	G	A	44982351	3	1	88	1	0	0	0	0	1	0	0	0	17831	1319	46	2	1735	2	ZNF180	19	44982351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48147	44982351	14146632	18608	26320											
CEACAM20	125931	broad.mit.edu	37	chr19	45024580	45024580	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcacaggcatagggccCcgtgtcattccgctggaggc	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45024580C>T	ENST00000454753.1	-	0	1236							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GCATAGGGCCCCGTGTCATTC	0.632													False	0	True	19:45024580	0	T	45024580	C	T	45024580	1	4	88	0	1	0	0	0	0	0	0	0	3214	623	22	2		2	CEACAM20	19	45024580	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42229	45024580	14104403	18609	26321											
PVR	5817	broad.mit.edu	37	chr19	45150592	45150592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccaacatggaggtgacGcatgtgtcacagctgacttg	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45150592G>A	ENST00000425690.3	+	2	476	c.177G>A	c.(175-177)acG>acA	p.T59T	CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Silent_p.T59T|PVR_ENST00000406449.4_Silent_p.T59T|PVR_ENST00000344956.4_Silent_p.T59T	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	59	Ig-like V-type.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TGGAGGTGACGCATGTGTCAC	0.647													False	0	False	19:45150592	0	A	45150592	G	A	45150592	2	1	88	1	0	0	0	0	0	0	0	1	12916	1074	38	1		1	PVR	19	45150592	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126012	45150592	13978391	18610	26322											
CEACAM16	388551	broad.mit.edu	37	chr19	45209005	45209005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggaccttcaacgggcaGgccctaaagaacggccaaga	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45209005G>T	ENST00000587331.1	+	5	1022	c.807G>T	c.(805-807)caG>caT	p.Q269H	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.Q269H	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	269										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TCAACGGGCAGGCCCTAAAGA	0.572													False	0	False	19:45209005	0	T	45209005	G	T	45209005	3	4	88	1	0	0	0	0	1	0	0	0	3211	991	35	3	821	3	CEACAM16	19	45209005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58413	45209005	13919978	18611	26323											
CEACAM16	388551	broad.mit.edu	37	chr19	45213775	45213775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgccccacagccctgggGtaacagcgtgaccctggaga	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45213775G>A	ENST00000587331.1	+	7	1490	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.G425G	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	425										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CAGCCCTGGGGTAACAGCGTG	0.652													False	0	True	19:45213775	0	A	45213775	G	A	45213775	2	1	88	1	0	0	0	0	0	0	0	1	3211	1248	44	2		2	CEACAM16	19	45213775	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4770	45213775	13915208	18612	26324											
BCL3	602	broad.mit.edu	37	chr19	45260657	45260657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgctagagcgcggtgcCgacatcgacgcagtggtgag	15	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45260657C>T	ENST00000164227.5	+	5	1042	c.798C>T	c.(796-798)gcC>gcT	p.A266A		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	266					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				AGCGCGGTGCCGACATCGACG	0.687			T	IGH@	CLL								False	0	False	19:45260657	0	T	45260657	C	T	45260657	2	4	88	1	0	0	0	0	0	0	0	1	1379	639	23	1		1	BCL3	19	45260657	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46882	45260657	13868326	18613	26325											
BCL3	602	broad.mit.edu	37	chr19	45262730	45262730	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccctcccagtctccccCcagggacccccctggattcc	6	23	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45262730C>A	ENST00000164227.5	+	9	1467	c.1223C>A	c.(1222-1224)cCc>cAc	p.P408H		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	408	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CAGTCTCCCCCCAGGGACCCC	0.627			T	IGH@	CLL								False	0	True	19:45262730	0	A	45262730	C	A	45262730	3	1	88	1	0	0	0	0	1	0	0	0	1379	623	22	3	1257	3	BCL3	19	45262730	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2073	45262730	13866253	18614	26326											
CBLC	23624	broad.mit.edu	37	chr19	45287578	45287578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccatcggctatgtgagCtcagatggcagcatcctgca	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45287578C>T	ENST00000270279.3	+	5	900	c.837C>T	c.(835-837)agC>agT	p.S279S	CBLC_ENST00000341505.4_Intron	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	279	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCTATGTGAGCTCAGATGGCA	0.597			M		AML						OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:45287578	0	T	45287578	C	T	45287578	2	4	88	1	0	0	0	0	0	0	0	1	2722	796	28	2		2	CBLC	19	45287578	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24848	45287578	13841405	18615	26327											
BCAM	4059	broad.mit.edu	37	chr19	45322676	45322676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagtgaccagcgccctgaGccgcgatggcatctcctgtg	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45322676G>A	ENST00000589651.1	+	12	1601	c.1547G>A	c.(1546-1548)aGc>aAc	p.S516N	BCAM_ENST00000270233.6_Missense_Mutation_p.S516N			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)		Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCGCCCTGAGCCGCGATGGC	0.652													False	0	False	19:45322676	0	A	45322676	G	A	45322676	3	1	88	1	0	0	0	0	1	0	0	0	1348	971	34	2	1593	2	BCAM	19	45322676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35098	45322676	13806307	18616	26328											
PVRL2	5819	broad.mit.edu	37	chr19	45391366	45391366	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctctctctacctccaGgaaatgcctcgataccatga	6	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45391366G>T	ENST00000252483.5	+	9	1347		c.e9-1		CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCTACCTCCAGGAAATGCCTC	0.572													False	0	False	19:45391366	0	T	45391366	G	T	45391366	5	4	88	1	0	0	0	0	0	0	1	0	12919	1014	35	3	1783	3	PVRL2	19	45391366	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68690	45391366	13737617	18617	26329											
APOE	348	broad.mit.edu	37	chr19	45412285	45412285	+	Silent	SNP	C	C	T													gagatgggcagccggacccgCgaccgcctggacgaggtgaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45412285C>T	ENST00000252486.4	+	4	843	c.732C>T	c.(730-732)cgC>cgT	p.R244R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	244	8 X 22 AA approximate tandem repeats.				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCCGGACCCGCGACCGCCTGG	0.746													False	0	False	19:45412285	0	T	45412285	C	T	45412285	2	4	88	1	0	0	0	0	0	0	0	1	804	755	27	1		1	APOE	19	45412285	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20919	45412285	13716698	18618	26330	276	2									
APOE	348	broad.mit.edu	37	chr19	45412290	45412290	+	Missense_Mutation	SNP	G	G	A													gggcagccggacccgcgaccGcctggacgaggtgaaggagc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45412290G>A	ENST00000252486.4	+	4	848	c.737G>A	c.(736-738)cGc>cAc	p.R246H		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	246	8 X 22 AA approximate tandem repeats.		R -> C (in isoform E2 Dunedin).		anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACCCGCGACCGCCTGGACGAG	0.751													False	0	False	19:45412290	0	A	45412290	G	A	45412290	3	1	88	1	0	0	0	0	1	0	0	0	804	1087	38	1	747	1	APOE	19	45412290	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	45412290	13716693	18619	26331	276	2									
CLPTM1	1209	broad.mit.edu	37	chr19	45489787	45489787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcaacatcgtggacgaCcacacgccgtgggtgaaggg	13	12	1	1	rs11541460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45489787C>T	ENST00000541297.2	+	7	1170	c.705C>T	c.(703-705)gaC>gaT	p.D235D	CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Silent_p.D147D|CLPTM1_ENST00000337392.5_Silent_p.D249D			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	249					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCGTGGACGACCACACGCCGT	0.622													False	0	False	19:45489787	0	T	45489787	C	T	45489787	2	4	88	1	0	0	0	0	0	0	0	1	3577	506	18	2		2	CLPTM1	19	45489787	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77497	45489787	13639196	18620	26332											
CLPTM1	1209	broad.mit.edu	37	chr19	45490528	45490528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggactactaccccatcaaCgagagcctggccagcctgcc	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45490528C>T	ENST00000541297.2	+	8	1308	c.843C>T	c.(841-843)aaC>aaT	p.N281N	CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Silent_p.N193N|CLPTM1_ENST00000337392.5_Silent_p.N295N			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	295					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ACCCCATCAACGAGAGCCTGG	0.582													False	0	False	19:45490528	0	T	45490528	C	T	45490528	2	4	88	1	0	0	0	0	0	0	0	1	3577	535	19	1		1	CLPTM1	19	45490528	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	741	45490528	13638455	18621	26333											
CLPTM1	1209	broad.mit.edu	37	chr19	45496135	45496135	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagcccctccaaagccagcaGaggacaagaaaaaggattag	10	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45496135G>A	ENST00000541297.2	+	14	2413	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K	CLPTM1_ENST00000546079.1_Missense_Mutation_p.E562K|CLPTM1_ENST00000337392.5_Missense_Mutation_p.E664K			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	664					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AAAGCCAGCAGAGGACAAGAA	0.687													False	0	False	19:45496135	0	A	45496135	G	A	45496135	3	1	88	1	0	0	0	0	1	0	0	0	3577	943	33	2	2044	2	CLPTM1	19	45496135	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5607	45496135	13632848	18622	26334											
ZNF296	162979	broad.mit.edu	37	chr19	45575632	45575632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctgccacttgcacgggGgctcttggcctcagctgctg	14	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45575632G>A	ENST00000303809.2	-	3	869	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	219					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CTTGCACGGGGGCTCTTGGCC	0.682													False	0	True	19:45575632	0	A	45575632	G	A	45575632	3	1	88	1	0	0	0	0	1	0	0	0	17911	1232	43	2	776	2	ZNF296	19	45575632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79497	45575632	13553351	18623	26335											
TRAPPC6A	79090	broad.mit.edu	37	chr19	45668402	45668402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctctcgcctagagcctgGcccacacggaaccccatacc	7	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45668402G>A	ENST00000006275.4	-	2	195	c.177C>T	c.(175-177)ggC>ggT	p.G59G	TRAPPC6A_ENST00000592647.1_Intron|TRAPPC6A_ENST00000588062.1_Intron|TRAPPC6A_ENST00000585934.1_Silent_p.G45G	NM_024108.2	NP_077013.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	45					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CTAGAGCCTGGCCCACACGGA	0.682													False	0	True	19:45668402	0	A	45668402	G	A	45668402	2	1	88	1	0	0	0	0	0	0	0	1	16546	1190	42	2		2	TRAPPC6A	19	45668402	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92770	45668402	13460581	18624	26336											
MARK4	57787	broad.mit.edu	37	chr19	45762366	45762366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagcagccccacgtgggCaactaccgcctgctgaggac	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45762366C>T	ENST00000300843.4	+	2	468	c.171C>T	c.(169-171)ggC>ggT	p.G57G	MARK4_ENST00000262891.4_Silent_p.G57G	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	57					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCCACGTGGGCAACTACCGCC	0.647													False	0	True	19:45762366	0	T	45762366	C	T	45762366	2	4	88	1	0	0	0	0	0	0	0	1	9382	697	25	2		2	MARK4	19	45762366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93964	45762366	13366617	18625	26337											
MARK4	57787	broad.mit.edu	37	chr19	45774951	45774951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggctccctgcccttcgaCgggcacaacctcaaggtacc	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45774951C>T	ENST00000300843.4	+	8	1068	c.771C>T	c.(769-771)gaC>gaT	p.D257D	MARK4_ENST00000262891.4_Silent_p.D257D	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	257	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCCCTTCGACGGGCACAACC	0.667													False	0	True	19:45774951	0	T	45774951	C	T	45774951	2	4	88	1	0	0	0	0	0	0	0	1	9382	535	19	1		1	MARK4	19	45774951	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12585	45774951	13354032	18626	26338											
MARK4	57787	broad.mit.edu	37	chr19	45781209	45781209	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgagtactcagagggaAgtaccgggtccctttctaca	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45781209A>C	ENST00000300843.4	+	9	1112	c.815A>C	c.(814-816)aAg>aCg	p.K272T	MARK4_ENST00000262891.4_Missense_Mutation_p.K272T	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	272	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCAGAGGGAAGTACCGGGTC	0.577													False	0	False	19:45781209	0	C	45781209	A	C	45781209	3	2	88	1	0	0	0	0	1	0	0	0	9382	72	3	4	849	4	MARK4	19	45781209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6258	45781209	13347774	18627	26339											
MARK4	57787	broad.mit.edu	37	chr19	45805679	45805679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccgccccccggctgctccGattcccctggagtgtgaagc	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45805679G>A	ENST00000300843.4	+	18	2347	c.2050G>A	c.(2050-2052)Gat>Aat	p.D684N	MARK4_ENST00000262891.4_Missense_Mutation_p.R657Q	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	0					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGGCTGCTCCGATTCCCCTGG	0.652													False	0	False	19:45805679	0	A	45805679	G	A	45805679	3	1	88	1	0	0	0	0	1	0	0	0	9382	1058	37	1	2120	1	MARK4	19	45805679	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24470	45805679	13323304	18628	26340											
MARK4	57787	broad.mit.edu	37	chr19	45805761	45805761	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccaggccacagcagccgcCcgctgccgctgccgccagcc	12	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45805761C>A	ENST00000262891.4	+	17	2383	c.2052C>A	c.(2050-2052)gcC>gcA	p.A684A	MARK4_ENST00000300843.4_3'UTR	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	684					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGCAGCCGCCCGCTGCCGCT	0.736													False	0	True	19:45805761	0	A	45805761	C	A	45805761	2	1	88	1	0	0	0	0	0	0	0	1	9382	638	22	3		3	MARK4	19	45805761	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82	45805761	13323222	18629	26341											
CKM	1158	broad.mit.edu	37	chr19	45810739	45810739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacccctcttctgcagaCgcaggcgggtgaggatctcc	12	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45810739C>T	ENST00000221476.3	-	7	1121	c.947G>A	c.(946-948)cGt>cAt	p.R316H		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	316	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CTTCTGCAGACGCAGGCGGGT	0.637													False	0	False	19:45810739	0	T	45810739	C	T	45810739	3	4	88	1	0	0	0	0	1	0	0	0	3471	536	19	1	206	1	CKM	19	45810739	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4978	45810739	13318244	18630	26342											
CKM	1158	broad.mit.edu	37	chr19	45821181	45821181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaagagttccttgaaaaCttcgtaggactcctcatcac	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45821181C>A	ENST00000221476.3	-	3	424	c.250G>T	c.(250-252)Gtt>Ttt	p.V84F		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	84	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TCCTTGAAAACTTCGTAGGAC	0.557													False	0	True	19:45821181	0	A	45821181	C	A	45821181	3	1	88	1	0	0	0	0	1	0	0	0	3471	565	20	3	919	3	CKM	19	45821181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10442	45821181	13307802	18631	26343											
CKM	1158	broad.mit.edu	37	chr19	45821219	45821219	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagccacgcagcccacgGtcatgatgaaggggtgacct	12	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45821219G>T	ENST00000221476.3	-	3	386	c.212C>A	c.(211-213)aCc>aAc	p.T71N		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	71	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCAGCCCACGGTCATGATGAA	0.602													False	0	False	19:45821219	0	T	45821219	G	T	45821219	3	4	88	1	0	0	0	0	1	0	0	0	3471	1261	44	3	957	3	CKM	19	45821219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	45821219	13307764	18632	26344											
ERCC2	2068	broad.mit.edu	37	chr19	45867704	45867704	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgttgtgggcctcgtcgaaGaccacgacggccttgcgggc	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45867704G>T	ENST00000391945.4	-	8	773	c.696C>A	c.(694-696)gtC>gtA	p.V232V	ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391944.3_Silent_p.V154V|ERCC2_ENST00000485403.2_Silent_p.V208V|ERCC2_ENST00000391940.4_Silent_p.V208V	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	232	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCTCGTCGAAGACCACGACGG	0.632			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	19:45867704	0	T	45867704	G	T	45867704	2	4	88	1	0	0	0	0	0	0	0	1	5245	929	33	3		3	ERCC2	19	45867704	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46485	45867704	13261279	18633	26345											
PPP1R13L	10848	broad.mit.edu	37	chr19	45885941	45885941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgtagtcccagagagcGtacactgccccgctgttcat	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45885941G>A	ENST00000418234.2	-	12	2370	c.2292C>T	c.(2290-2292)taC>taT	p.Y764Y	PPP1R13L_ENST00000360957.5_Silent_p.Y764Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	764	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCCAGAGAGCGTACACTGCCC	0.662													False	0	False	19:45885941	0	A	45885941	G	A	45885941	2	1	88	1	0	0	0	0	0	0	0	1	12432	1140	40	1		1	PPP1R13L	19	45885941	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18237	45885941	13243042	18634	26346											
PPP1R13L	10848	broad.mit.edu	37	chr19	45888926	45888926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaagattgcagcgccgtgCtgcaccagcgccatgcagat	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45888926C>T	ENST00000418234.2	-	11	2220	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q	PPP1R13L_ENST00000360957.5_Silent_p.Q714Q	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	714					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAGCGCCGTGCTGCACCAGCG	0.662													False	0	False	19:45888926	0	T	45888926	C	T	45888926	2	4	88	1	0	0	0	0	0	0	0	1	12432	796	28	2		2	PPP1R13L	19	45888926	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2985	45888926	13240057	18635	26347											
PPP1R13L	10848	broad.mit.edu	37	chr19	45889369	45889369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcgtccaggaggagcaCcagagggttgaggcgcgcgc	18	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45889369C>T	ENST00000418234.2	-	9	1963	c.1885G>A	c.(1885-1887)Gtg>Atg	p.V629M	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.V629M	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	629					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGGAGGAGCACCAGAGGGTTG	0.736													False	0	False	19:45889369	0	T	45889369	C	T	45889369	3	4	88	1	0	0	0	0	1	0	0	0	12432	507	18	2	621	2	PPP1R13L	19	45889369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	443	45889369	13239614	18636	26348											
ERCC1	2067	broad.mit.edu	37	chr19	45918173	45918173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggtccgctggtttctgCtcataggccttgtaggtctc	13	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45918173C>T	ENST00000300853.3	-	7	1239	c.648G>A	c.(646-648)gaG>gaA	p.E216E	ERCC1_ENST00000423698.2_Silent_p.E144E|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000589165.1_Silent_p.E216E|ERCC1_ENST00000013807.5_Silent_p.E216E|ERCC1_ENST00000340192.7_Silent_p.E216E	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	216					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CTGGTTTCTGCTCATAGGCCT	0.602								Nucleotide excision repair (NER)					False	0	False	19:45918173	0	T	45918173	C	T	45918173	2	4	88	1	0	0	0	0	0	0	0	1	5244	796	28	2		2	ERCC1	19	45918173	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28804	45918173	13210810	18637	26349											
ERCC1	2067	broad.mit.edu	37	chr19	45924573	45924573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggctgtgagatggcatattCggcgtaggtctgaggggccg	18	7	1	2	rs150584960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45924573C>T	ENST00000300853.3	-	3	775	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000591636.1_Missense_Mutation_p.E62K|ERCC1_ENST00000589165.1_Missense_Mutation_p.E62K|ERCC1_ENST00000013807.5_Missense_Mutation_p.E62K|ERCC1_ENST00000340192.7_Missense_Mutation_p.E62K	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	62					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		ATGGCATATTCGGCGTAGGTC	0.642								Nucleotide excision repair (NER)					False	0	False	19:45924573	0	T	45924573	C	T	45924573	3	4	88	1	0	0	0	0	1	0	0	0	5244	893	31	1	870	1	ERCC1	19	45924573	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6400	45924573	13204410	18638	26350											
RTN2	6253	broad.mit.edu	37	chr19	45991740	45991740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactcacctggtgctgccGgtacagcagggggatggtga	15	11	1	1	rs140876163	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45991740G>A	ENST00000590526.1	-	9	1790	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	RTN2_ENST00000245923.4_Missense_Mutation_p.R496W|RTN2_ENST00000344680.4_Missense_Mutation_p.R423W|RTN2_ENST00000430715.2_Missense_Mutation_p.R156W			O75298	RTN2_HUMAN	reticulon 2	496						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGGTGCTGCCGGTACAGCAGG	0.567													False	0	False	19:45991740	0	A	45991740	G	A	45991740	3	1	88	1	0	0	0	0	1	0	0	0	13805	1115	39	1	163	1	RTN2	19	45991740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67167	45991740	13137243	18639	26351											
RTN2	6253	broad.mit.edu	37	chr19	45992145	45992145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctaccaggaagaagtgCcgcagctgcgtggccgccga	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45992145C>T	ENST00000590526.1	-	7	1645	c.519G>A	c.(517-519)cgG>cgA	p.R173R	RTN2_ENST00000245923.4_Silent_p.R447R|RTN2_ENST00000344680.4_Silent_p.R374R|PPM1N_ENST00000401705.1_5'UTR|RTN2_ENST00000430715.2_Silent_p.R107R			O75298	RTN2_HUMAN	reticulon 2	447						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGAAGAAGTGCCGCAGCTGCG	0.637													False	0	False	19:45992145	0	T	45992145	C	T	45992145	2	4	88	1	0	0	0	0	0	0	0	1	13805	726	26	2		2	RTN2	19	45992145	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	405	45992145	13136838	18640	26352											
RTN2	6253	broad.mit.edu	37	chr19	45996450	45996450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcggctccgagtgagaggCtggggacaccgctgcttctc	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45996450C>A	ENST00000590526.1	-	5	1305	c.179G>T	c.(178-180)aGc>aTc	p.S60I	RTN2_ENST00000245923.4_Missense_Mutation_p.S334I|RTN2_ENST00000344680.4_Intron|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'UTR			O75298	RTN2_HUMAN	reticulon 2	334						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GAGTGAGAGGCTGGGGACACC	0.637													False	0	False	19:45996450	0	A	45996450	C	A	45996450	3	1	88	1	0	0	0	0	1	0	0	0	13805	797	28	3	664	3	RTN2	19	45996450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4305	45996450	13132533	18641	26353											
RTN2	6253	broad.mit.edu	37	chr19	45998110	45998110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcagttgaatccctgCggcccccggagcccactaca	13	16	0	1	rs143302045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45998110C>T	ENST00000245923.4	-	3	468	c.233G>A	c.(232-234)cGc>cAc	p.R78H	RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.R78H|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	78						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGAATCCCTGCGGCCCCCGGA	0.692													False	0	False	19:45998110	0	T	45998110	C	T	45998110	3	4	88	1	0	0	0	0	1	0	0	0	13805	768	27	1	1440	1	RTN2	19	45998110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1660	45998110	13130873	18642	26354											
PPM1N	147699	broad.mit.edu	37	chr19	46005347	46005347	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggacatggaggcctgacagCtgttgtcctttggggatcct	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46005347C>A	ENST00000456399.2	+	4	405	c.282C>A	c.(280-282)agC>agA	p.S94R	PPM1N_ENST00000396735.2_3'UTR|PPM1N_ENST00000396736.2_Missense_Mutation_p.S101R|PPM1N_ENST00000401593.1_Missense_Mutation_p.S104R|PPM1N_ENST00000401705.1_3'UTR|PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000396737.2_3'UTR			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	309	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						GGCCTGACAGCTGTTGTCCTT	0.527													False	0	False	19:46005347	0	A	46005347	C	A	46005347	3	1	88	1	0	0	0	0	1	0	0	0	12420	812	28	3		3	PPM1N	19	46005347	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7237	46005347	13123636	18643	26355											
OPA3	80207	broad.mit.edu	37	chr19	46087992	46087992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggatgcccaagtatagcaGcttcgccatagggaacgcgc	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46087992G>T	ENST00000263275.4	-	1	85	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	OPA3_ENST00000323060.3_Missense_Mutation_p.L11M|OPA3_ENST00000544371.1_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	11					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		AAGTATAGCAGCTTCGCCATA	0.622													False	0	False	19:46087992	0	T	46087992	G	T	46087992	3	4	88	1	0	0	0	0	1	0	0	0	10940	962	34	3	921	3	OPA3	19	46087992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82645	46087992	13040991	18644	26356											
GPR4	2828	broad.mit.edu	37	chr19	46095003	46095003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcacctggcggtaggccGcccacagagccaggcagttg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46095003G>A	ENST00000323040.4	-	2	1066	c.122C>T	c.(121-123)gCg>gTg	p.A41V	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	41						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCGGTAGGCCGCCCACAGAGC	0.647													False	0	True	19:46095003	0	A	46095003	G	A	46095003	3	1	88	1	0	0	0	0	1	0	0	0	6740	1087	38	1	970	1	GPR4	19	46095003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7011	46095003	13033980	18645	26357											
EML2	24139	broad.mit.edu	37	chr19	46124788	46124788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaccccagaggaccacccGccgatcacggccccctccag	9	20	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46124788G>A	ENST00000536630.1	-	13	1528	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	EML2_ENST00000589876.1_Missense_Mutation_p.R317W|EML2_ENST00000587152.1_Missense_Mutation_p.R518W|EML2_ENST00000245925.3_Missense_Mutation_p.R317W	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	317					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGGACCACCCGCCGATCACGG	0.687													False	0	True	19:46124788	0	A	46124788	G	A	46124788	3	1	88	1	0	0	0	0	1	0	0	0	5129	1086	38	1	1040	1	EML2	19	46124788	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29785	46124788	13004195	18646	26358											
EML2	24139	broad.mit.edu	37	chr19	46130084	46130084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggtggccaccaatacaGcctcattggagcactttggg	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46130084G>T	ENST00000536630.1	-	11	1199	c.1061C>A	c.(1060-1062)gCt>gAt	p.A354D	EML2_ENST00000586902.1_5'UTR|EML2_ENST00000589876.1_Missense_Mutation_p.A207D|EML2_ENST00000587152.1_Missense_Mutation_p.A408D|EML2_ENST00000245925.3_Missense_Mutation_p.A207D	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	207					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CACCAATACAGCCTCATTGGA	0.582													False	0	False	19:46130084	0	T	46130084	G	T	46130084	3	4	88	1	0	0	0	0	1	0	0	0	5129	971	34	3	1377	3	EML2	19	46130084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5296	46130084	12998899	18647	26359											
QPCTL	54814	broad.mit.edu	37	chr19	46198779	46198779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcaacacccctggggccaGtggactttggcaatgtggtg	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46198779G>T	ENST00000012049.5	+	3	657	c.436G>T	c.(436-438)Gtg>Ttg	p.V146L	QPCTL_ENST00000366382.4_Intron	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	146				Missing (in Ref. 4; AAH11553).	peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCTGGGGCCAGTGGACTTTGG	0.622													False	0	False	19:46198779	0	T	46198779	G	T	46198779	3	4	88	1	0	0	0	0	1	0	0	0	12954	1029	36	3	446	3	QPCTL	19	46198779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68695	46198779	12930204	18648	26360											
QPCTL	54814	broad.mit.edu	37	chr19	46201906	46201906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcccggcacctggcccaGctcatggagtctatacctca	10	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46201906G>A	ENST00000012049.5	+	4	956	c.735G>A	c.(733-735)caG>caA	p.Q245Q	QPCTL_ENST00000366382.4_Silent_p.Q151Q	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	245					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		ACCTGGCCCAGCTCATGGAGT	0.622													False	0	False	19:46201906	0	A	46201906	G	A	46201906	2	1	88	1	0	0	0	0	0	0	0	1	12954	962	34	2		2	QPCTL	19	46201906	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3127	46201906	12927077	18649	26361											
FBXO46	23403	broad.mit.edu	37	chr19	46216211	46216211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggccagggctgcccgCtgttccaccagggccaccat	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46216211C>T	ENST00000317683.3	-	2	676	c.543G>A	c.(541-543)caG>caA	p.Q181Q		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	181							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGCTGCCCGCTGTTCCACCA	0.711													False	0	False	19:46216211	0	T	46216211	C	T	46216211	2	4	88	1	0	0	0	0	0	0	0	1	5795	796	28	2		2	FBXO46	19	46216211	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14305	46216211	12912772	18650	26362											
SIX5	147912	broad.mit.edu	37	chr19	46271482	46271482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgggagcgctccttgaaGcagtagactgtctcctcgcc	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46271482G>A	ENST00000317578.6	-	1	1002	c.621C>T	c.(619-621)tgC>tgT	p.C207C	AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_Intron|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	207						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCTCCTTGAAGCAGTAGACTG	0.687													False	0	False	19:46271482	0	A	46271482	G	A	46271482	2	1	88	1	0	0	0	0	0	0	0	1	14431	963	34	2		2	SIX5	19	46271482	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55271	46271482	12857501	18651	26363											
DMPK	1760	broad.mit.edu	37	chr19	46275971	46275971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaagcagctgctcggcCtccagttccatgggtgtggg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46275971C>A	ENST00000600757.1	-	9	1974	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D	DMPK_ENST00000447742.2_Missense_Mutation_p.E419D|DMPK_ENST00000458663.2_Missense_Mutation_p.E419D|DMPK_ENST00000354227.5_Missense_Mutation_p.E419D|DMPK_ENST00000343373.4_Missense_Mutation_p.E434D|DMPK_ENST00000291270.4_Missense_Mutation_p.E424D			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	434					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCTGCTCGGCCTCCAGTTCCA	0.632													False	0	False	19:46275971	0	A	46275971	C	A	46275971	3	1	88	1	0	0	0	0	1	0	0	0	4614	680	24	3	648	3	DMPK	19	46275971	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4489	46275971	12853012	18652	26364											
DMPK	1760	broad.mit.edu	37	chr19	46280710	46280710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaccatcccagtcgaggcCaaagaagaagggatgtgtcc	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46280710C>T	ENST00000600757.1	-	7	1738	c.1051G>A	c.(1051-1053)Ggc>Agc	p.G351S	DMPK_ENST00000447742.2_Missense_Mutation_p.G341S|DMPK_ENST00000458663.2_Missense_Mutation_p.G341S|DMPK_ENST00000354227.5_Missense_Mutation_p.G341S|DMPK_ENST00000343373.4_Missense_Mutation_p.G351S|DMPK_ENST00000291270.4_Missense_Mutation_p.G341S			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	351	AGC-kinase C-terminal.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CAGTCGAGGCCAAAGAAGAAG	0.622													False	0	True	19:46280710	0	T	46280710	C	T	46280710	3	4	88	1	0	0	0	0	1	0	0	0	4614	594	21	2	907	2	DMPK	19	46280710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4739	46280710	12848273	18653	26365											
DMPK	1760	broad.mit.edu	37	chr19	46281440	46281440	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcggccaggcggatgtggCcacagcggtccagcaggatg	17	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46281440C>A	ENST00000600757.1	-	5	1337	c.650G>T	c.(649-651)gGc>gTc	p.G217V	DMPK_ENST00000447742.2_Missense_Mutation_p.G207V|DMPK_ENST00000458663.2_Missense_Mutation_p.G207V|DMPK_ENST00000354227.5_Missense_Mutation_p.G207V|DMPK_ENST00000343373.4_Missense_Mutation_p.G217V|DMPK_ENST00000291270.4_Missense_Mutation_p.G207V			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	217	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCGGATGTGGCCACAGCGGTC	0.607													False	0	False	19:46281440	0	A	46281440	C	A	46281440	3	1	88	1	0	0	0	0	1	0	0	0	4614	739	26	3	1316	3	DMPK	19	46281440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	730	46281440	12847543	18654	26366											
DMPK	1760	broad.mit.edu	37	chr19	46281893	46281893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccacgtaatactccatgaCcaggtactgagaaggggttc	11	11	0	2	rs145501208	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46281893C>A	ENST00000600757.1	-	4	1156	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	DMPK_ENST00000447742.2_Missense_Mutation_p.V147F|DMPK_ENST00000458663.2_Missense_Mutation_p.V147F|DMPK_ENST00000354227.5_Missense_Mutation_p.V147F|DMPK_ENST00000343373.4_Missense_Mutation_p.V157F|DMPK_ENST00000291270.4_Missense_Mutation_p.V147F			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	157	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TACTCCATGACCAGGTACTGA	0.607													False	0	False	19:46281893	0	A	46281893	C	A	46281893	3	1	88	1	0	0	0	0	1	0	0	0	4614	507	18	3	1501	3	DMPK	19	46281893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453	46281893	12847090	18655	26367											
SYMPK	8189	broad.mit.edu	37	chr19	46319807	46319807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgctggcctccaagatgGtcatgatggagttagggatg	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46319807G>A	ENST00000245934.7	-	25	3531	c.3287C>T	c.(3286-3288)aCc>aTc	p.T1096I	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1096					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTCCAAGATGGTCATGATGGA	0.657													False	0	False	19:46319807	0	A	46319807	G	A	46319807	3	1	88	1	0	0	0	0	1	0	0	0	15521	1261	44	2	549	2	SYMPK	19	46319807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37914	46319807	12809176	18656	26368											
SYMPK	8189	broad.mit.edu	37	chr19	46332306	46332306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catacttgtccagggagcccGaggcacctgcggccaggtag	14	13	0	0	rs146919889	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46332306G>A	ENST00000245934.7	-	14	2151	c.1907C>T	c.(1906-1908)tCg>tTg	p.S636L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	636					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGGGAGCCCGAGGCACCTGC	0.642													False	0	True	19:46332306	0	A	46332306	G	A	46332306	3	1	88	1	0	0	0	0	1	0	0	0	15521	1059	37	1	1973	1	SYMPK	19	46332306	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12499	46332306	12796677	18657	26369											
SYMPK	8189	broad.mit.edu	37	chr19	46341750	46341750	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattatcaggcgtcagcagaGgctgcaggaactcagctgtg	13	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46341750G>T	ENST00000245934.7	-	10	1455	c.1211C>A	c.(1210-1212)cCt>cAt	p.P404H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	404					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGTCAGCAGAGGCTGCAGGAA	0.602													False	0	False	19:46341750	0	T	46341750	G	T	46341750	3	4	88	1	0	0	0	0	1	0	0	0	15521	1000	35	3	2685	3	SYMPK	19	46341750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9444	46341750	12787233	18658	26370											
SYMPK	8189	broad.mit.edu	37	chr19	46345746	46345746	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcgtcgggggcaggttGgctgtgaggaaagtggcagg	21	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46345746G>A	ENST00000245934.7	-	9	1093	c.849C>T	c.(847-849)gcC>gcT	p.A283A		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	283					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGGCAGGTTGGCTGTGAGGA	0.557													False	0	False	19:46345746	0	A	46345746	G	A	46345746	5	1	88	1	0	0	0	0	0	0	1	0	15521	1362	47	2	3051	2	SYMPK	19	46345746	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3996	46345746	12783237	18659	26371											
SYMPK	8189	broad.mit.edu	37	chr19	46351106	46351106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcagccatgcggggtgacaGggtgacaatgaggccctcca	15	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46351106G>T	ENST00000245934.7	-	7	824	c.580C>A	c.(580-582)Ctg>Atg	p.L194M		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	194					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGGGGTGACAGGGTGACAATG	0.582													False	0	True	19:46351106	0	T	46351106	G	T	46351106	3	4	88	1	0	0	0	0	1	0	0	0	15521	991	35	3	3328	3	SYMPK	19	46351106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5360	46351106	12777877	18660	26372											
FOXA3	3171	broad.mit.edu	37	chr19	46376245	46376245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggggtttgggggctacGgggctgaaggtggggagcct	22	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46376245G>A	ENST00000302177.2	+	2	1179	c.982G>A	c.(982-984)Ggg>Agg	p.G328R		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	328					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGGGGGCTACGGGGCTGAAGG	0.562													False	0	True	19:46376245	0	A	46376245	G	A	46376245	3	1	88	1	0	0	0	0	1	0	0	0	6031	1116	39	1	988	1	FOXA3	19	46376245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25139	46376245	12752738	18661	26373											
IRF2BP1	26145	broad.mit.edu	37	chr19	46389025	46389025	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcggcgggacgcctgcacaGacgccatggccccagtccgc	15	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46389025G>T	ENST00000302165.3	-	1	351	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGCCTGCACAGACGCCATGGC	0.731													False	0	False	19:46389025	0	T	46389025	G	T	46389025	3	4	88	1	0	0	0	0	1	0	0	0	7879	942	33	3	1750	3	IRF2BP1	19	46389025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12780	46389025	12739958	18662	26374											
MYPOP	339344	broad.mit.edu	37	chr19	46404623	46404623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaagagggggccgcagGgggctcctccgccccagcac	16	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46404623G>A	ENST00000322217.5	-	2	495	c.409C>T	c.(409-411)Cct>Tct	p.P137S		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	137	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GGGGCCGCAGGGGGCTCCTCC	0.711													False	0	True	19:46404623	0	A	46404623	G	A	46404623	3	1	88	1	0	0	0	0	1	0	0	0	10166	1232	43	2	798	2	MYPOP	19	46404623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15598	46404623	12724360	18663	26375											
NOVA2	4858	broad.mit.edu	37	chr19	46443145	46443145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactttctgggggtttgaGgccctcactccctgctcgta	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46443145G>A	ENST00000263257.5	-	4	1649	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	485						nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGGGTTTGAGGCCCTCACTC	0.647													False	0	False	19:46443145	0	A	46443145	G	A	46443145	2	1	88	1	0	0	0	0	0	0	0	1	10623	987	35	2		2	NOVA2	19	46443145	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38522	46443145	12685838	18664	26376											
IGFL3	388555	broad.mit.edu	37	chr19	46627247	46627247	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccaaaagactcgggacaGcagagctcaaagcagggcca	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46627247G>T	ENST00000341415.2	-	3	270	c.246C>A	c.(244-246)tgC>tgA	p.C82*	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	82						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ACTCGGGACAGCAGAGCTCAA	0.532													False	0	False	19:46627247	0	T	46627247	G	T	46627247	4	4	88	1	0	0	0	0	0	1	0	0	7638	963	34	3	139	3	IGFL3	19	46627247	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184102	46627247	12501736	18665	26377											
HIF3A	64344	broad.mit.edu	37	chr19	46811543	46811543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaagaggagcttcaggaCgccctgaccccccagcagag	12	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46811543C>T	ENST00000339613.2	+	4	516	c.261C>T	c.(259-261)gaC>gaT	p.D87D	HIF3A_ENST00000377670.4_Silent_p.D143D|HIF3A_ENST00000300862.3_Silent_p.D141D|HIF3A_ENST00000600383.1_Silent_p.D74D|HIF3A_ENST00000472815.1_Silent_p.D74D|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Silent_p.D92D|HIF3A_ENST00000244303.6_Silent_p.D74D			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	143	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGCTTCAGGACGCCCTGACCC	0.607													False	0	False	19:46811543	0	T	46811543	C	T	46811543	2	4	88	1	0	0	0	0	0	0	0	1	7152	535	19	1		1	HIF3A	19	46811543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184296	46811543	12317440	18666	26378											
CCDC8	83987	broad.mit.edu	37	chr19	46915898	46915898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgctcttctccatgatgCgggccacgtcctccagggtg	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46915898C>T	ENST00000307522.3	-	1	943	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	57						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ctccatgatgcgggccacgtc	0.642													False	0	True	19:46915898	0	T	46915898	C	T	46915898	3	4	88	1	0	0	0	0	1	0	0	0	2874	768	27	1	1450	1	CCDC8	19	46915898	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104355	46915898	12213085	18667	26379											
PNMAL1	55228	broad.mit.edu	37	chr19	46971816	46971816	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagtatgggtggtcccccaGatcaaacctttctggattct	9	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46971816G>T	ENST00000438932.2	-	3	1266	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M	PNMAL1_ENST00000602246.1_Missense_Mutation_p.L79M|PNMAL1_ENST00000313683.10_3'UTR			Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	0										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tggtcccccagatcaaacctt	0.418													False	0	False	19:46971816	0	T	46971816	G	T	46971816	3	4	88	1	0	0	0	0	1	0	0	0	12226	933	33	3	23	3	PNMAL1	19	46971816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55918	46971816	12157167	18668	26380											
PNMAL1	55228	broad.mit.edu	37	chr19	46974141	46974141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgagcacgcggtacgggCccagtggggagaggacccca	17	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46974141C>A	ENST00000313683.10	-	2	457	c.152G>T	c.(151-153)gGc>gTc	p.G51V	PNMAL1_ENST00000602246.1_Missense_Mutation_p.G51V|PNMAL1_ENST00000438932.2_Missense_Mutation_p.G51V	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	51										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gcggtacgggcccagtgggga	0.542													False	0	True	19:46974141	0	A	46974141	C	A	46974141	3	1	88	1	0	0	0	0	1	0	0	0	12226	739	26	3	1197	3	PNMAL1	19	46974141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2325	46974141	12154842	18669	26381											
PNMAL2	57469	broad.mit.edu	37	chr19	46998046	46998046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcagcggcctgcagcGtggcgtacagcgcgctctgg	16	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46998046G>A	ENST00000599531.1	-	1	1709	c.677C>T	c.(676-678)aCg>aTg	p.T226M	PNMAL2_ENST00000377655.2_Missense_Mutation_p.T226M|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.V53M	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	226										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGCCTGCAGCGTGGCGTACAG	0.667													False	0	False	19:46998046	0	A	46998046	G	A	46998046	3	1	88	1	0	0	0	0	1	0	0	0	12227	1145	40	1	1234	1	PNMAL2	19	46998046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23905	46998046	12130937	18670	26382											
PNMAL2	57469	broad.mit.edu	37	chr19	46998367	46998367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgggggtcccagcctccGcggcctgcgtgggcccgtca	15	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46998367G>A	ENST00000599531.1	-	1	1388	c.356C>T	c.(355-357)gCg>gTg	p.A119V	PNMAL2_ENST00000377655.2_Missense_Mutation_p.A119V|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Missense_Mutation_p.A160T	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	119										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCCAGCCTCCGCGGCCTGCGT	0.692													False	0	False	19:46998367	0	A	46998367	G	A	46998367	3	1	88	1	0	0	0	0	1	0	0	0	12227	1087	38	1	1555	1	PNMAL2	19	46998367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	321	46998367	12130616	18671	26383											
PRKD2	25865	broad.mit.edu	37	chr19	47178333	47178333	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgtccacgctgtagcgtTtgcgcatcttcacctgcagc	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47178333T>G	ENST00000433867.1	-	18	2858	c.2381A>C	c.(2380-2382)aAa>aCa	p.K794T	PRKD2_ENST00000600194.1_Missense_Mutation_p.K637T|PRKD2_ENST00000291281.4_Missense_Mutation_p.K794T|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000595515.1_Missense_Mutation_p.K804T|PRKD2_ENST00000601806.1_Missense_Mutation_p.K637T	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	794	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCTGTAGCGTTTGCGCATCTT	0.567													False	0	True	19:47178333	0	G	47178333	T	G	47178333	3	3	88	1	0	0	0	0	1	0	0	0	12595	1841	64	4	263	4	PRKD2	19	47178333	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	179966	47178333	11950650	18672	26384											
PRKD2	25865	broad.mit.edu	37	chr19	47194999	47194999	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagtgtcctcacctccataGaccactccaaactgccctga	6	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47194999G>T	ENST00000433867.1	-	13	2172	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	PRKD2_ENST00000601806.1_Silent_p.V408V|PRKD2_ENST00000600194.1_Silent_p.V408V|PRKD2_ENST00000291281.4_Silent_p.V565V|PRKD2_ENST00000595515.1_Silent_p.V565V	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	565	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CACCTCCATAGACCACTCCAA	0.587													False	0	False	19:47194999	0	T	47194999	G	T	47194999	2	4	88	1	0	0	0	0	0	0	0	1	12595	929	33	3		3	PRKD2	19	47194999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16666	47194999	11933984	18673	26385											
PRKD2	25865	broad.mit.edu	37	chr19	47197201	47197201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagggcctggcggatggCtgtctcccagccccgggcgg	16	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47197201C>T	ENST00000433867.1	-	11	1984	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	PRKD2_ENST00000601806.1_Missense_Mutation_p.A346T|PRKD2_ENST00000600194.1_Missense_Mutation_p.A346T|PRKD2_ENST00000291281.4_Missense_Mutation_p.A503T|PRKD2_ENST00000595515.1_Missense_Mutation_p.A503T	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	503	PH.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGGCGGATGGCTGTCTCCCAG	0.697													False	0	False	19:47197201	0	T	47197201	C	T	47197201	3	4	88	1	0	0	0	0	1	0	0	0	12595	797	28	2	1165	2	PRKD2	19	47197201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2202	47197201	11931782	18674	26386											
PRKD2	25865	broad.mit.edu	37	chr19	47207843	47207843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgacaggcgccgtttgCgggccccactacagttgttg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47207843C>T	ENST00000433867.1	-	5	1052	c.575G>A	c.(574-576)cGc>cAc	p.R192H	PRKD2_ENST00000601806.1_Missense_Mutation_p.R35H|PRKD2_ENST00000600194.1_Missense_Mutation_p.R35H|PRKD2_ENST00000291281.4_Missense_Mutation_p.R192H|PRKD2_ENST00000595515.1_Missense_Mutation_p.R192H	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	192					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCGCCGTTTGCGGGCCCCACT	0.647											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:47207843	0	T	47207843	C	T	47207843	3	4	88	1	0	0	0	0	1	0	0	0	12595	768	27	1	2121	1	PRKD2	19	47207843	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10642	47207843	11921140	18675	26387											
STRN4	29888	broad.mit.edu	37	chr19	47223960	47223960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcctcgtgcttcttgcGgtgggccgtgatctcctgca	13	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47223960G>A	ENST00000391910.3	-	17	2632	c.2182C>T	c.(2182-2184)Cgc>Tgc	p.R728C	STRN4_ENST00000263280.6_Missense_Mutation_p.R721C|STRN4_ENST00000539396.1_Missense_Mutation_p.R602C			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	721						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	p.R721C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGCTTCTTGCGGTGGGCCGTG	0.627													False	0	False	19:47223960	0	A	47223960	G	A	47223960	3	1	88	1	0	0	0	0	1	0	0	0	15413	1116	39	1	104	1	STRN4	19	47223960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16117	47223960	11905023	18676	26388											
STRN4	29888	broad.mit.edu	37	chr19	47228829	47228829	+	Missense_Mutation	SNP	C	C	T													tgtggtggaaggccagggaaCgaatgccgtcgtagtgcgag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228829C>T	ENST00000391910.3	-	10	1796	c.1346G>A	c.(1345-1347)cGt>cAt	p.R449H	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.R442H|STRN4_ENST00000539396.1_Missense_Mutation_p.R323H			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	442						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGCCAGGGAACGAATGCCGTC	0.612													False	0	False	19:47228829	0	T	47228829	C	T	47228829	3	4	88	1	0	0	0	0	1	0	0	0	15413	536	19	1	968	1	STRN4	19	47228829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4869	47228829	11900154	18677	26389	277	2									
STRN4	29888	broad.mit.edu	37	chr19	47228837	47228837	+	Silent	SNP	G	G	A													aaggccagggaacgaatgccGtcgtagtgcgagcgcagggt					rs145271240	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228837G>A	ENST00000391910.3	-	10	1788	c.1338C>T	c.(1336-1338)gaC>gaT	p.D446D	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Silent_p.D439D|STRN4_ENST00000539396.1_Silent_p.D320D			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	439						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AACGAATGCCGTCGTAGTGCG	0.612													False	0	False	19:47228837	0	A	47228837	G	A	47228837	2	1	88	1	0	0	0	0	0	0	0	1	15413	1136	40	1		1	STRN4	19	47228837	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	47228837	11900146	18678	26390	277	2									
STRN4	29888	broad.mit.edu	37	chr19	47228870	47228870	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcagggtgaacttggggttCcacgtcttcttaaaagcatc	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228870C>T	ENST00000391910.3	-	10	1755	c.1305G>A	c.(1303-1305)tgG>tgA	p.W435*	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Nonsense_Mutation_p.W428*|STRN4_ENST00000539396.1_Nonsense_Mutation_p.W309*			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	428						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ACTTGGGGTTCCACGTCTTCT	0.607													False	0	False	19:47228870	0	T	47228870	C	T	47228870	4	4	88	1	0	0	0	0	0	1	0	0	15413	856	30	2	1009	2	STRN4	19	47228870	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	47228870	11900113	18679	26391											
STRN4	29888	broad.mit.edu	37	chr19	47232005	47232005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctcatcctcgtcttcCatttcgggcaccagagcctt	6	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47232005C>T	ENST00000391910.3	-	7	1359	c.909G>A	c.(907-909)atG>atA	p.M303I	STRN4_ENST00000263280.6_Missense_Mutation_p.M303I|STRN4_ENST00000539396.1_Missense_Mutation_p.M184I|CTB-174O21.2_ENST00000600716.1_RNA			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	303						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCTCGTCTTCCATTTCGGGCA	0.577													False	0	False	19:47232005	0	T	47232005	C	T	47232005	3	4	88	1	0	0	0	0	1	0	0	0	15413	594	21	2	1417	2	STRN4	19	47232005	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3135	47232005	11896978	18680	26392											
STRN4	29888	broad.mit.edu	37	chr19	47232016	47232016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcttccatttcgggcaCcagagccttggatgggagct	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47232016C>T	ENST00000391910.3	-	7	1348	c.898G>A	c.(898-900)Gtg>Atg	p.V300M	STRN4_ENST00000263280.6_Missense_Mutation_p.V300M|STRN4_ENST00000539396.1_Missense_Mutation_p.V181M|CTB-174O21.2_ENST00000600716.1_RNA			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	300						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ATTTCGGGCACCAGAGCCTTG	0.557											OREG0025579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:47232016	0	T	47232016	C	T	47232016	3	4	88	1	0	0	0	0	1	0	0	0	15413	507	18	2	1428	2	STRN4	19	47232016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11	47232016	11896967	18681	26393											
FKRP	79147	broad.mit.edu	37	chr19	47259280	47259280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccgccgcgccccgctgCgacgccctggacggagatgc	14	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47259280C>T	ENST00000318584.5	+	4	870	c.573C>T	c.(571-573)tgC>tgT	p.C191C	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Silent_p.C191C	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	191						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGCCCCGCTGCGACGCCCTGG	0.741													False	0	False	19:47259280	0	T	47259280	C	T	47259280	2	4	88	1	0	0	0	0	0	0	0	1	5957	776	27	1		1	FKRP	19	47259280	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27264	47259280	11869703	18682	26394											
ARHGAP35	2909	broad.mit.edu	37	chr19	47423229	47423229	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggaaaagagttgagatgCgaagggcgtttaaagaaaac	13	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47423229C>T	ENST00000404338.3	+	1	1297	c.1297C>T	c.(1297-1299)Cga>Tga	p.R433*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	433	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.R433*(2)									AGTTGAGATGCGAAGGGCGTT	0.463													False	0	False	19:47423229	0	T	47423229	C	T	47423229	4	4	88	1	0	0	0	0	0	1	0	0	6842	760	27	1	1299	1	ARHGAP35	19	47423229	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163949	47423229	11705754	18683	26395											
ARHGAP35	2909	broad.mit.edu	37	chr19	47424913	47424913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatatcgagccatcttacaGcctgtttcgagaagacacat	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47424913G>A	ENST00000404338.3	+	1	2981	c.2981G>A	c.(2980-2982)aGc>aAc	p.S994N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	994					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCATCTTACAGCCTGTTTCGA	0.493													False	0	False	19:47424913	0	A	47424913	G	A	47424913	3	1	88	1	0	0	0	0	1	0	0	0	6842	971	34	2	2983	2	ARHGAP35	19	47424913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1684	47424913	11704070	18684	26396											
NPAS1	4861	broad.mit.edu	37	chr19	47535606	47535606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgggaggtcacatcttGcaggtgagtgaggccccttc	13	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47535606G>A	ENST00000602212.1	+	4	649	c.429G>A	c.(427-429)ttG>ttA	p.L143L	NPAS1_ENST00000449844.2_Silent_p.L143L|NPAS1_ENST00000602189.1_5'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	143	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GTCACATCTTGCAGGTGAGTG	0.642											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:47535606	0	A	47535606	G	A	47535606	2	1	88	1	0	0	0	0	0	0	0	1	10630	1310	46	2		2	NPAS1	19	47535606	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110693	47535606	11593377	18685	26397											
NPAS1	4861	broad.mit.edu	37	chr19	47542776	47542776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactccatggacacatgatcGtcttccgtctcagcctgggt	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47542776G>A	ENST00000602212.1	+	8	1136	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	NPAS1_ENST00000439365.2_Missense_Mutation_p.V130I|NPAS1_ENST00000449844.2_Missense_Mutation_p.V306I|NPAS1_ENST00000602189.1_Missense_Mutation_p.V131I			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	306	PAS 2.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		ACACATGATCGTCTTCCGTCT	0.672													False	0	False	19:47542776	0	A	47542776	G	A	47542776	3	1	88	1	0	0	0	0	1	0	0	0	10630	1145	40	1	942	1	NPAS1	19	47542776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7170	47542776	11586207	18686	26398											
ZC3H4	23211	broad.mit.edu	37	chr19	47570756	47570756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctccccttcctcctcctcCgttgggggcggcccagaccc	10	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47570756C>T	ENST00000253048.5	-	15	2806	c.2769G>A	c.(2767-2769)acG>acA	p.T923T	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	923							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCCTCCTCCGTTGGGGGCG	0.711													False	0	True	19:47570756	0	T	47570756	C	T	47570756	2	4	88	1	0	0	0	0	0	0	0	1	17653	639	23	1		1	ZC3H4	19	47570756	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27980	47570756	11558227	18687	26399											
ZC3H4	23211	broad.mit.edu	37	chr19	47584827	47584827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgggaaaacatgcagtcGtcaccattgatgcagttccc	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47584827G>A	ENST00000253048.5	-	11	1420	c.1383C>T	c.(1381-1383)gaC>gaT	p.D461D	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	461							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ACATGCAGTCGTCACCATTGA	0.542													False	0	False	19:47584827	0	A	47584827	G	A	47584827	2	1	88	1	0	0	0	0	0	0	0	1	17653	1136	40	1		1	ZC3H4	19	47584827	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14071	47584827	11544156	18688	26400											
ZC3H4	23211	broad.mit.edu	37	chr19	47588377	47588377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgttcatccctcctcggCtgccacctcggcctcggccc	8	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47588377C>T	ENST00000253048.5	-	8	1080	c.1043G>A	c.(1042-1044)aGc>aAc	p.S348N	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	348	Gly-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCCTCCTCGGCTGCCACCTCG	0.597													False	0	False	19:47588377	0	T	47588377	C	T	47588377	3	4	88	1	0	0	0	0	1	0	0	0	17653	797	28	2	2900	2	ZC3H4	19	47588377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3550	47588377	11540606	18689	26401											
CCDC9	26093	broad.mit.edu	37	chr19	47763668	47763668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggagaaggagaacgtgGcagtggagtcggtgagctcg	19	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47763668G>A	ENST00000221922.6	+	4	421	c.199G>A	c.(199-201)Gca>Aca	p.A67T		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	67										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGAGAACGTGGCAGTGGAGTC	0.622													False	0	False	19:47763668	0	A	47763668	G	A	47763668	3	1	88	1	0	0	0	0	1	0	0	0	2888	1203	42	2	209	2	CCDC9	19	47763668	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	175291	47763668	11365315	18690	26402											
DHX34	9704	broad.mit.edu	37	chr19	47856540	47856540	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggagaaagaccctggaCagcccaagcacagcatccca	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47856540C>T	ENST00000328771.4	+	2	602	c.253C>T	c.(253-255)Cag>Tag	p.Q85*		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	85						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGACCCTGGACAGCCCAAGCA	0.567													False	0	False	19:47856540	0	T	47856540	C	T	47856540	4	4	88	1	0	0	0	0	0	1	0	0	4537	479	17	2	255	2	DHX34	19	47856540	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92872	47856540	11272443	18691	26403											
DHX34	9704	broad.mit.edu	37	chr19	47865893	47865893	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatcggactatgatgccttCgccccctaccccgtcccaga	8	17	0	2	rs138426511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47865893C>T	ENST00000328771.4	+	6	1885	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	512	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ATGATGCCTTCGCCCCCTACC	0.642													False	0	False	19:47865893	0	T	47865893	C	T	47865893	2	4	88	1	0	0	0	0	0	0	0	1	4537	883	31	1		1	DHX34	19	47865893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9353	47865893	11263090	18692	26404											
DHX34	9704	broad.mit.edu	37	chr19	47870358	47870358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccctggacagctcagagGccctcacacccattgggtcc	12	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47870358G>A	ENST00000328771.4	+	7	2063	c.1714G>A	c.(1714-1716)Gcc>Acc	p.A572T	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	572						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CAGCTCAGAGGCCCTCACACC	0.667													False	0	True	19:47870358	0	A	47870358	G	A	47870358	3	1	88	1	0	0	0	0	1	0	0	0	4537	1203	42	2	1736	2	DHX34	19	47870358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4465	47870358	11258625	18693	26405											
SLC8A2	6543	broad.mit.edu	37	chr19	47969093	47969093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggtgcttgatcttgcGgctctcgccggctgggatga	14	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47969093G>A	ENST00000236877.6	-	2	963	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	190					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTGATCTTGCGGCTCTCGCCG	0.572													False	0	False	19:47969093	0	A	47969093	G	A	47969093	3	1	88	1	0	0	0	0	1	0	0	0	14787	1116	39	1	2233	1	SLC8A2	19	47969093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98735	47969093	11159890	18694	26406											
KPTN	11133	broad.mit.edu	37	chr19	47979831	47979831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagaccacggcaagctcCtgcagcccatccccggtcag	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47979831C>T	ENST00000338134.3	-	11	1247	c.1140G>A	c.(1138-1140)caG>caA	p.Q380Q	KPTN_ENST00000536339.1_Silent_p.Q140Q	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	380					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CGGCAAGCTCCTGCAGCCCAT	0.652													False	0	False	19:47979831	0	T	47979831	C	T	47979831	2	4	88	1	0	0	0	0	0	0	0	1	8487	680	24	2		2	KPTN	19	47979831	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10738	47979831	11149152	18695	26407											
NAPA	8775	broad.mit.edu	37	chr19	47996703	47996703	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccaccaactctgtctcataGatctcagcaatggagatgtg	8	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47996703G>T	ENST00000263354.3	-	5	689	c.390C>A	c.(388-390)atC>atA	p.I130I	NAPA_ENST00000595227.1_Silent_p.I91I|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	130					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol		p.I130I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CTGTCTCATAGATCTCAGCAA	0.607													False	0	False	19:47996703	0	T	47996703	G	T	47996703	2	4	88	1	0	0	0	0	0	0	0	1	10228	932	33	3		3	NAPA	19	47996703	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16872	47996703	11132280	18696	26408											
GLTSCR1	29998	broad.mit.edu	37	chr19	48183836	48183836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgctgccgggccagaAccagttcctactgcctggcg	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48183836A>G	ENST00000396720.3	+	6	1603	c.1409A>G	c.(1408-1410)aAc>aGc	p.N470S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	470							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCGGGCCAGAACCAGTTCCTA	0.721													False	0	False	19:48183836	0	G	48183836	A	G	48183836	3	3	88	1	0	0	0	0	1	0	0	0	6519	43	2	4	1423	4	GLTSCR1	19	48183836	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	187133	48183836	10945147	18697	26409											
GLTSCR1	29998	broad.mit.edu	37	chr19	48197882	48197882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccacctggtccctgagCcggcagcaccccccccaccg	8	24	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48197882C>T	ENST00000396720.3	+	8	2988	c.2794C>T	c.(2794-2796)Ccg>Tcg	p.P932S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	932							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGTCCCTGAGCCGGCAGCACC	0.682													False	0	False	19:48197882	0	T	48197882	C	T	48197882	3	4	88	1	0	0	0	0	1	0	0	0	6519	739	26	2	2816	2	GLTSCR1	19	48197882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14046	48197882	10931101	18698	26410											
EHD2	30846	broad.mit.edu	37	chr19	48244498	48244498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggatggtggggaccaagCtccccaactcagtgctgggg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48244498C>T	ENST00000263277.3	+	6	1692	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	EHD2_ENST00000538399.1_Missense_Mutation_p.L345F|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	481	EF-hand.|EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GGGGACCAAGCTCCCCAACTC	0.612													False	0	False	19:48244498	0	T	48244498	C	T	48244498	3	4	88	1	0	0	0	0	1	0	0	0	5008	797	28	2	1459	2	EHD2	19	48244498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46616	48244498	10884485	18699	26411											
GLTSCR2	29997	broad.mit.edu	37	chr19	48254262	48254262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagctgccccgggaggtgCgcagggcccaggcccggctc	18	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48254262C>T	ENST00000246802.5	+	4	534	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	166				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCGGGAGGTGCGCAGGGCCCA	0.687													False	0	False	19:48254262	0	T	48254262	C	T	48254262	3	4	88	1	0	0	0	0	1	0	0	0	6520	768	27	1	510	1	GLTSCR2	19	48254262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9764	48254262	10874721	18700	26412											
GLTSCR2	29997	broad.mit.edu	37	chr19	48255775	48255775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttctccacagcggccaGcacgcctgcacaccaagccg	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48255775G>A	ENST00000246802.5	+	6	714	c.676G>A	c.(676-678)Gca>Aca	p.A226T	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	226						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACAGCGGCCAGCACGCCTGCA	0.662													False	0	False	19:48255775	0	A	48255775	G	A	48255775	3	1	88	1	0	0	0	0	1	0	0	0	6520	971	34	2	698	2	GLTSCR2	19	48255775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1513	48255775	10873208	18701	26413											
GLTSCR2	29997	broad.mit.edu	37	chr19	48255822	48255822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccgccgtggaggtggcGcctgccggagcttcctacaa	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48255822G>A	ENST00000246802.5	+	6	761	c.723G>A	c.(721-723)gcG>gcA	p.A241A	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	241						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		TGGAGGTGGCGCCTGCCGGAG	0.662													False	0	False	19:48255822	0	A	48255822	G	A	48255822	2	1	88	1	0	0	0	0	0	0	0	1	6520	1074	38	1		1	GLTSCR2	19	48255822	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	48255822	10873161	18702	26414											
GLTSCR2	29997	broad.mit.edu	37	chr19	48258122	48258122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagacggagcagcagcggCggcgggagaaggctgtgcac	19	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48258122C>T	ENST00000246802.5	+	8	1065	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	343						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GCAGCAGCGGCGGCGGGAGAA	0.726													False	0	True	19:48258122	0	T	48258122	C	T	48258122	3	4	88	1	0	0	0	0	1	0	0	0	6520	759	27	1	1057	1	GLTSCR2	19	48258122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2300	48258122	10870861	18703	26415											
TPRX1	284355	broad.mit.edu	37	chr19	48305292	48305293	+	Frame_Shift_Ins	INS	-	-	AAATCAC													ggggctggggctgggagtgaINStcctgggcctgggattggag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48305292_48305293insAAATCAC	ENST00000322175.3	-	2	1130_1131	c.975_976insGTGATTT	c.(973-978)ggatcafs	p.S326fs	TPRX1_ENST00000543508.1_Frame_Shift_Ins_p.S316fs|TPRX1_ENST00000535759.1_Frame_Shift_Ins_p.S423fs	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	326						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gctgggagtgatcctgggcctg	0.629													False	0	False	19:48305292	0	AAATCAC	48305293	-	AAATCAC	48305292	7	5	88	1	0	1	1	0	0	0	0	0	16505	333	12	0	263	0	TPRX1	19	48305292	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	47170	48305292	10823691	18704	26416											
CRX	1406	broad.mit.edu	37	chr19	48342621	48342621	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcaggcagcagcgacaGcagcagaaacagcagcagca	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48342621G>T	ENST00000221996.7	+	4	503	c.297G>T	c.(295-297)caG>caT	p.Q99H	CRX_ENST00000539067.1_Missense_Mutation_p.Q99H|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	99					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		agcagcgacagcagcagaaac	0.642													False	0	True	19:48342621	0	T	48342621	G	T	48342621	3	4	88	1	0	0	0	0	1	0	0	0	3925	962	34	3	307	3	CRX	19	48342621	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37329	48342621	10786362	18705	26417											
CRX	1406	broad.mit.edu	37	chr19	48342916	48342916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccatgacctacgccccgGcctccgctttctgctcttcc	7	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48342916G>A	ENST00000221996.7	+	4	798	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	CRX_ENST00000539067.1_Missense_Mutation_p.A198T|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	198					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CTACGCCCCGGCCTCCGCTTT	0.672													False	0	False	19:48342916	0	A	48342916	G	A	48342916	3	1	88	1	0	0	0	0	1	0	0	0	3925	1203	42	2	602	2	CRX	19	48342916	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	295	48342916	10786067	18706	26418											
CRX	1406	broad.mit.edu	37	chr19	48343134	48343134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatagcttggaattcaaGgaccccacgggcacctggaa	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48343134G>A	ENST00000221996.7	+	4	1016	c.810G>A	c.(808-810)aaG>aaA	p.K270K	CRX_ENST00000539067.1_Silent_p.K270K|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	270					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TGGAATTCAAGGACCCCACGG	0.582													False	0	False	19:48343134	0	A	48343134	G	A	48343134	2	1	88	1	0	0	0	0	0	0	0	1	3925	991	35	2		2	CRX	19	48343134	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	218	48343134	10785849	18707	26419											
SULT2A1	6822	broad.mit.edu	37	chr19	48382317	48382317	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctcctcataactcagTaacaggaagtttttctcctc	5	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48382317T>C	ENST00000222002.3	-	4	682	c.543A>G	c.(541-543)ttA>ttG	p.L181L		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CATAACTCAGTAACAGGAAGT	0.463													False	0	False	19:48382317	0	C	48382317	T	C	48382317	2	2	88	1	0	0	0	0	0	0	0	1	15463	1635	57	4		4	SULT2A1	19	48382317	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39183	48382317	10746666	18708	26420											
SULT2A1	6822	broad.mit.edu	37	chr19	48386976	48386976	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcgctcccagatgggcacaGattggatccacttggcatcc	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48386976G>T	ENST00000222002.3	-	2	342	c.203C>A	c.(202-204)tCt>tAt	p.S68Y		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	68					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GATGGGCACAGATTGGATCCA	0.483													False	0	False	19:48386976	0	T	48386976	G	T	48386976	3	4	88	1	0	0	0	0	1	0	0	0	15463	942	33	3	674	3	SULT2A1	19	48386976	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4659	48386976	10742007	18709	26421											
ELSPBP1	64100	broad.mit.edu	37	chr19	48519159	48519159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcctaacagattacccacGctgtatcttccctttcatct	4	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48519159G>A	ENST00000339841.2	+	4	396	c.218G>A	c.(217-219)cGc>cAc	p.R73H	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	73	Fibronectin type-II 2.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GATTACCCACGCTGTATCTTC	0.463													False	0	False	19:48519159	0	A	48519159	G	A	48519159	3	1	88	1	0	0	0	0	1	0	0	0	5115	1087	38	1	228	1	ELSPBP1	19	48519159	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132183	48519159	10609824	18710	26422											
ELSPBP1	64100	broad.mit.edu	37	chr19	48523002	48523002	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaattctctcaggaagCcctgcatcttcccctccatc	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48523002C>A	ENST00000339841.2	+	5	560	c.382C>A	c.(382-384)Ccc>Acc	p.P128T	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	128	Fibronectin type-II 3.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TCTCAGGAAGCCCTGCATCTT	0.443													False	0	True	19:48523002	0	A	48523002	C	A	48523002	3	1	88	1	0	0	0	0	1	0	0	0	5115	739	26	3	396	3	ELSPBP1	19	48523002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3843	48523002	10605981	18711	26423											
PLA2G4C	8605	broad.mit.edu	37	chr19	48598787	48598787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttcttgaatttgcttcCgaagtgggttatggaaacaa	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48598787C>T	ENST00000354276.3	-	7	970	c.643G>A	c.(643-645)Gga>Aga	p.G215R	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G215R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G225R|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.G215R	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	215	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AATTTGCTTCCGAAGTGGGTT	0.542													False	0	False	19:48598787	0	T	48598787	C	T	48598787	3	4	88	1	0	0	0	0	1	0	0	0	12072	661	23	1	1030	1	PLA2G4C	19	48598787	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75785	48598787	10530196	18712	26424											
CARD8	22900	broad.mit.edu	37	chr19	48725090	48725090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcgcacaccatggaagCgatcttcctcatcatctatc	8	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48725090C>T	ENST00000391898.3	-	8	1100	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	CARD8_ENST00000520753.1_Missense_Mutation_p.R353H|CARD8_ENST00000519940.1_Missense_Mutation_p.R353H|CARD8_ENST00000521613.1_Missense_Mutation_p.R303H|CARD8_ENST00000359009.4_Missense_Mutation_p.R247H|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Missense_Mutation_p.R303H|CARD8_ENST00000520015.1_Missense_Mutation_p.R353H|CARD8_ENST00000447740.2_Missense_Mutation_p.R303H|CARD8_ENST00000357778.5_Missense_Mutation_p.R78H	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	247	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		ACCATGGAAGCGATCTTCCTC	0.428													False	0	False	19:48725090	0	T	48725090	C	T	48725090	3	4	88	1	0	0	0	0	1	0	0	0	2671	768	27	1	571	1	CARD8	19	48725090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126303	48725090	10403893	18713	26425											
ZNF114	163071	broad.mit.edu	37	chr19	48785680	48785680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccaaagaggagtggaCcctgctggacccagctcaga	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48785680C>T	ENST00000595607.1	+	5	556	c.62C>T	c.(61-63)aCc>aTc	p.T21I	ZNF114_ENST00000597695.1_5'UTR|ZNF114_ENST00000315849.1_Missense_Mutation_p.T21I|ZNF114_ENST00000600687.1_Missense_Mutation_p.T21I			Q8NC26	ZN114_HUMAN	zinc finger protein 114	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		GAGGAGTGGACCCTGCTGGAC	0.512													False	0	True	19:48785680	0	T	48785680	C	T	48785680	3	4	88	1	0	0	0	0	1	0	0	0	17799	507	18	2	68	2	ZNF114	19	48785680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60590	48785680	10343303	18714	26426											
CCDC114	93233	broad.mit.edu	37	chr19	48800327	48800327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgctggacccgaggcctCcgctcgaatcagacgctgtg	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48800327C>T	ENST00000315396.7	-	14	2601	c.1919G>A	c.(1918-1920)gGa>gAa	p.G640E		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	640	Ser-rich.									cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CCCGAGGCCTCCGCTCGAATC	0.662													False	0	False	19:48800327	0	T	48800327	C	T	48800327	3	4	88	1	0	0	0	0	1	0	0	0	2771	855	30	2	97	2	CCDC114	19	48800327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14647	48800327	10328656	18715	26427											
CCDC114	93233	broad.mit.edu	37	chr19	48800516	48800516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgttggggtcaccgtgcGtgatgtggctgggcaaatgc	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48800516G>A	ENST00000315396.7	-	14	2412	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	577								p.T577M(1)|p.T370M(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTCACCGTGCGTGATGTGGCT	0.622													False	0	True	19:48800516	0	A	48800516	G	A	48800516	3	1	88	1	0	0	0	0	1	0	0	0	2771	1145	40	1	286	1	CCDC114	19	48800516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189	48800516	10328467	18716	26428											
CCDC114	93233	broad.mit.edu	37	chr19	48806314	48806314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccagctccaagttctgctCgttgatgaagttgaactcag	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48806314C>T	ENST00000315396.7	-	9	1598	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	306										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AAGTTCTGCTCGTTGATGAAG	0.592													False	0	False	19:48806314	0	T	48806314	C	T	48806314	3	4	88	1	0	0	0	0	1	0	0	0	2771	893	31	1	1120	1	CCDC114	19	48806314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5798	48806314	10322669	18717	26429											
CCDC114	93233	broad.mit.edu	37	chr19	48806982	48806982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtttattcagggcgtcctCgtagcaaagcaccagcctct	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48806982C>T	ENST00000315396.7	-	8	1484	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	268										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGGGCGTCCTCGTAGCAAAGC	0.632													False	0	False	19:48806982	0	T	48806982	C	T	48806982	3	4	88	1	0	0	0	0	1	0	0	0	2771	893	31	1	1238	1	CCDC114	19	48806982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	668	48806982	10322001	18718	26430											
SYNGR4	23546	broad.mit.edu	37	chr19	48876806	48876806	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcgtcttctcctccctgctGaccgacggctaccagaacaa	7	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48876806G>A	ENST00000344846.2	+	3	376	c.126G>A	c.(124-126)ctG>ctA	p.L42L	SYNGR4_ENST00000595322.1_5'UTR|SYNGR4_ENST00000601610.1_5'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	42	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCTCCCTGCTGACCGACGGCT	0.597													False	0	False	19:48876806	0	A	48876806	G	A	48876806	2	1	88	1	0	0	0	0	0	0	0	1	15533	1277	45	2		2	SYNGR4	19	48876806	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69824	48876806	10252177	18719	26431											
SYNGR4	23546	broad.mit.edu	37	chr19	48879469	48879469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccaacagccctgtgaAcatgcccaccactggcccca	7	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48879469A>G	ENST00000344846.2	+	5	849	c.599A>G	c.(598-600)aAc>aGc	p.N200S	SYNGR4_ENST00000595322.1_3'UTR|SYNGR4_ENST00000601610.1_3'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	200						integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AGCCCTGTGAACATGCCCACC	0.607													False	0	False	19:48879469	0	G	48879469	A	G	48879469	3	3	88	1	0	0	0	0	1	0	0	0	15533	43	2	4	613	4	SYNGR4	19	48879469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2663	48879469	10249514	18720	26432											
GRIN2D	2906	broad.mit.edu	37	chr19	48908453	48908453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtttgcagtgcgctcgGctggctggcgggatgacctg	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48908453G>A	ENST00000263269.3	+	3	1016	c.928G>A	c.(928-930)Gct>Act	p.A310T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	310						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	AGTGCGCTCGGCTGGCTGGCG	0.711													False	0	True	19:48908453	0	A	48908453	G	A	48908453	3	1	88	1	0	0	0	0	1	0	0	0	6829	1203	42	2	934	2	GRIN2D	19	48908453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28984	48908453	10220530	18721	26433											
GRIN2D	2906	broad.mit.edu	37	chr19	48908591	48908591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccagaaccgcacccacCgcggcgagagtctgcatagg	13	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48908591C>T	ENST00000263269.3	+	3	1154	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	356						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCGCACCCACCGCGGCGAGAG	0.622													False	0	True	19:48908591	0	T	48908591	C	T	48908591	3	4	88	1	0	0	0	0	1	0	0	0	6829	652	23	1	1072	1	GRIN2D	19	48908591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138	48908591	10220392	18722	26434											
GRIN2D	2906	broad.mit.edu	37	chr19	48922979	48922979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtgggccttcttcgccGtcatcttcctcgccagctac	10	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48922979G>A	ENST00000263269.3	+	9	2087	c.1999G>A	c.(1999-2001)Gtc>Atc	p.V667I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	667						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTTCTTCGCCGTCATCTTCCT	0.592													False	0	False	19:48922979	0	A	48922979	G	A	48922979	3	1	88	1	0	0	0	0	1	0	0	0	6829	1145	40	1	2029	1	GRIN2D	19	48922979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14388	48922979	10206004	18723	26435											
GRIN2D	2906	broad.mit.edu	37	chr19	48945066	48945066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgatgctgcagtgctcaatTacatggcccgcaaggacgag	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48945066T>C	ENST00000263269.3	+	11	2381	c.2293T>C	c.(2293-2295)Tac>Cac	p.Y765H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	765						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	AGTGCTCAATTACATGGCCCG	0.637													False	0	False	19:48945066	0	C	48945066	T	C	48945066	3	2	88	1	0	0	0	0	1	0	0	0	6829	1754	61	4	2331	4	GRIN2D	19	48945066	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22087	48945066	10183917	18724	26436											
GRIN2D	2906	broad.mit.edu	37	chr19	48945465	48945465	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctgccacaatgacaaaatCgaggtgatgagcagcaagct	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48945465C>T	ENST00000263269.3	+	12	2587	c.2499C>T	c.(2497-2499)atC>atT	p.I833I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	833						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	ATGACAAAATCGAGGTGATGA	0.582													False	0	False	19:48945465	0	T	48945465	C	T	48945465	2	4	88	1	0	0	0	0	0	0	0	1	6829	874	31	1		1	GRIN2D	19	48945465	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399	48945465	10183518	18725	26437											
GRWD1	83743	broad.mit.edu	37	chr19	48953707	48953707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctccgggatgagcaggcCcaaatgaagcccatcttctc	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48953707C>T	ENST00000253237.5	+	4	839	c.606C>T	c.(604-606)gcC>gcT	p.A202A		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	202						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ATGAGCAGGCCCAAATGAAGC	0.657													False	0	True	19:48953707	0	T	48953707	C	T	48953707	2	4	88	1	0	0	0	0	0	0	0	1	6858	610	22	2		2	GRWD1	19	48953707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8242	48953707	10175276	18726	26438											
GRWD1	83743	broad.mit.edu	37	chr19	48953963	48953963	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtcaaaagaacatccacctCtggacacctacggacggcgg	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48953963C>A	ENST00000253237.5	+	5	956	c.723C>A	c.(721-723)ctC>ctA	p.L241L		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	241						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ACATCCACCTCTGGACACCTA	0.637													False	0	False	19:48953963	0	A	48953963	C	A	48953963	2	1	88	1	0	0	0	0	0	0	0	1	6858	900	32	3		3	GRWD1	19	48953963	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	256	48953963	10175020	18727	26439											
GRWD1	83743	broad.mit.edu	37	chr19	48956001	48956001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttcaagcagcacgtgGcccccgtgacctccgtcgag	10	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48956001G>A	ENST00000253237.5	+	7	1293	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	354						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCAGCACGTGGCCCCCGTGAC	0.652													False	0	True	19:48956001	0	A	48956001	G	A	48956001	3	1	88	1	0	0	0	0	1	0	0	0	6858	1203	42	2	1086	2	GRWD1	19	48956001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2038	48956001	10172982	18728	26440											
GRWD1	83743	broad.mit.edu	37	chr19	48956239	48956239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggctcctggtcagcaCggcgctgtcaggcttcacca	12	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48956239C>T	ENST00000253237.5	+	7	1531	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	433						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CTGGTCAGCACGGCGCTGTCA	0.632													False	0	False	19:48956239	0	T	48956239	C	T	48956239	3	4	88	1	0	0	0	0	1	0	0	0	6858	536	19	1	1324	1	GRWD1	19	48956239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238	48956239	10172744	18729	26441											
KCNJ14	3770	broad.mit.edu	37	chr19	48965133	48965133	+	Missense_Mutation	SNP	G	G	A													cgtgggccggcgccgcggtcGcttcgtcaagaaagacgggc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965133G>A	ENST00000391884.1	+	1	628	c.152G>A	c.(151-153)cGc>cAc	p.R51H	KCNJ14_ENST00000342291.2_Missense_Mutation_p.R51H			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	51						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CGCCGCGGTCGCTTCGTCAAG	0.701													False	0	False	19:48965133	0	A	48965133	G	A	48965133	3	1	88	1	0	0	0	0	1	0	0	0	8098	1087	38	1	154	1	KCNJ14	19	48965133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8894	48965133	10163850	18730	26442	278	2									
KCNJ14	3770	broad.mit.edu	37	chr19	48965137	48965137	+	Silent	SNP	C	C	T													ggccggcgccgcggtcgcttCgtcaagaaagacgggcactg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965137C>T	ENST00000391884.1	+	1	632	c.156C>T	c.(154-156)ttC>ttT	p.F52F	KCNJ14_ENST00000342291.2_Silent_p.F52F			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	52						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GCGGTCGCTTCGTCAAGAAAG	0.706													False	0	False	19:48965137	0	T	48965137	C	T	48965137	2	4	88	1	0	0	0	0	0	0	0	1	8098	883	31	1		1	KCNJ14	19	48965137	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4	48965137	10163846	18731	26443	278	2									
KCNJ14	3770	broad.mit.edu	37	chr19	48965230	48965230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttcaccacatgcgtggaCgtgcgctggcgctggatgtg	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965230C>T	ENST00000391884.1	+	1	725	c.249C>T	c.(247-249)gaC>gaT	p.D83D	KCNJ14_ENST00000342291.2_Silent_p.D83D			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	83						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CATGCGTGGACGTGCGCTGGC	0.642													False	0	False	19:48965230	0	T	48965230	C	T	48965230	2	4	88	1	0	0	0	0	0	0	0	1	8098	535	19	1		1	KCNJ14	19	48965230	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93	48965230	10163753	18732	26444											
KCNJ14	3770	broad.mit.edu	37	chr19	48965405	48965405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccgccttcctcttcgcgCtggagacgcagacgtccatc	11	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965405C>A	ENST00000391884.1	+	1	900	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	KCNJ14_ENST00000342291.2_Missense_Mutation_p.L142M			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	142						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CCTCTTCGCGCTGGAGACGCA	0.721													False	0	False	19:48965405	0	A	48965405	C	A	48965405	3	1	88	1	0	0	0	0	1	0	0	0	8098	796	28	3	426	3	KCNJ14	19	48965405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175	48965405	10163578	18733	26445											
CYTH2	9266	broad.mit.edu	37	chr19	48977504	48977504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccacaatcccaatgtcCgggacaagccgggcctggag	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48977504C>T	ENST00000427476.1	+	7	913	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	CYTH2_ENST00000452733.2_Missense_Mutation_p.R205W	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	205					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCCCAATGTCCGGGACAAGCC	0.637													False	0	True	19:48977504	0	T	48977504	C	T	48977504	3	4	88	1	0	0	0	0	1	0	0	0	4229	643	23	1	639	1	CYTH2	19	48977504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12099	48977504	10151479	18734	26446											
LMTK3	114783	broad.mit.edu	37	chr19	49001742	49001742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgcagggacatcagcaGctgttccgtgctcacttgaa	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49001742G>T	ENST00000600059.1	-	11	2811	c.2584C>A	c.(2584-2586)Ctg>Atg	p.L862M	LMTK3_ENST00000270238.3_Missense_Mutation_p.L891M					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GACATCAGCAGCTGTTCCGTG	0.706													False	0	False	19:49001742	0	T	49001742	G	T	49001742	3	4	88	1	0	0	0	0	1	0	0	0	8913	962	34	3	1818	3	LMTK3	19	49001742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24238	49001742	10127241	18735	26447											
SPACA4	171169	broad.mit.edu	37	chr19	49110298	49110298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcacgacgggcgtcaaGgactgcgtcttctgtgagct	14	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49110298G>A	ENST00000321762.1	+	1	299	c.63G>A	c.(61-63)aaG>aaA	p.K21K	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	21					cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CGGGCGTCAAGGACTGCGTCT	0.662													False	0	False	19:49110298	0	A	49110298	G	A	49110298	2	1	88	1	0	0	0	0	0	0	0	1	15054	991	35	2		2	SPACA4	19	49110298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108556	49110298	10018685	18736	26448											
RPL18	6141	broad.mit.edu	37	chr19	49119337	49119337	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaccacgtatcactcaccGgagagcaggacagtgccaca	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49119337G>A	ENST00000549273.1	-	5	453	c.420C>T	c.(418-420)tcC>tcT	p.S140S	RPL18_ENST00000549920.1_Splice_Site_p.S140S|RPL18_ENST00000552588.1_Splice_Site_p.S111S|RPL18_ENST00000550645.1_Intron			Q07020	RL18_HUMAN	ribosomal protein L18	140					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		ATCACTCACCGGAGAGCAGGA	0.652													False	0	False	19:49119337	0	A	49119337	G	A	49119337	5	1	88	1	0	0	0	0	0	0	1	0	13643	1130	39	1	158	1	RPL18	19	49119337	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9039	49119337	10009646	18737	26449											
RPL18	6141	broad.mit.edu	37	chr19	49120059	49120059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccgtcttgttttcccggCcaggaagcttcatcttccgg	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49120059C>T	ENST00000549273.1	-	4	254	c.221G>A	c.(220-222)gGc>gAc	p.G74D	RPL18_ENST00000549920.1_Missense_Mutation_p.G74D|RPL18_ENST00000552588.1_Missense_Mutation_p.G45D|RPL18_ENST00000550645.1_Missense_Mutation_p.G74D			Q07020	RL18_HUMAN	ribosomal protein L18	74					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GTTTTCCCGGCCAGGAAGCTT	0.577													False	0	False	19:49120059	0	T	49120059	C	T	49120059	3	4	88	1	0	0	0	0	1	0	0	0	13643	739	26	2	361	2	RPL18	19	49120059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	722	49120059	10008924	18738	26450											
DBP	1628	broad.mit.edu	37	chr19	49134162	49134162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggacagctcctggcgcaCggccacaacttcctgccgca	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49134162C>T	ENST00000222122.5	-	4	1353	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	DBP_ENST00000599385.1_Missense_Mutation_p.V102M|DBP_ENST00000593500.1_Missense_Mutation_p.V102M	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	304	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TCCTGGCGCACGGCCACAACT	0.697													False	0	False	19:49134162	0	T	49134162	C	T	49134162	3	4	88	1	0	0	0	0	1	0	0	0	4281	536	19	1	71	1	DBP	19	49134162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14103	49134162	9994821	18739	26451											
DBP	1628	broad.mit.edu	37	chr19	49134254	49134254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgagccgccgggcgtcaCgggaccgcttggctgcctcg	15	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49134254C>T	ENST00000222122.5	-	4	1261	c.818G>A	c.(817-819)cGt>cAt	p.R273H	DBP_ENST00000599385.1_Missense_Mutation_p.R71H|DBP_ENST00000593500.1_Missense_Mutation_p.R71H	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	273					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CCGGGCGTCACGGGACCGCTT	0.642													False	0	True	19:49134254	0	T	49134254	C	T	49134254	3	4	88	1	0	0	0	0	1	0	0	0	4281	536	19	1	163	1	DBP	19	49134254	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	49134254	9994729	18740	26452											
NTN5	126147	broad.mit.edu	37	chr19	49167894	49167894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctccagaacccaggttgGcagtagtggcagtgccgccc	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49167894G>A	ENST00000270235.4	-	3	857	c.762C>T	c.(760-762)tgC>tgT	p.C254C	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	254	Laminin EGF-like 2.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						ACCCAGGTTGGCAGTAGTGGC	0.657													False	0	False	19:49167894	0	A	49167894	G	A	49167894	2	1	88	1	0	0	0	0	0	0	0	1	10771	1195	42	2		2	NTN5	19	49167894	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33640	49167894	9961089	18741	26453											
FUT2	2524	broad.mit.edu	37	chr19	49206490	49206490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagatgaacgggcggcccGccttcatcccggcccagatg	12	16	1	3	rs112722916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49206490G>A	ENST00000425340.2	+	2	394	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	FUT2_ENST00000391876.4_Missense_Mutation_p.A93T	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	93					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CGGGCGGCCCGCCTTCATCCC	0.652													False	0	True	19:49206490	0	A	49206490	G	A	49206490	3	1	88	1	0	0	0	0	1	0	0	0	6146	1087	38	1	279	1	FUT2	19	49206490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38596	49206490	9922493	18742	26454											
FUT2	2524	broad.mit.edu	37	chr19	49207006	49207006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgatgtggtgtttgctggcGatggcattgagggctcacct	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49207006G>A	ENST00000425340.2	+	2	910	c.793G>A	c.(793-795)Gat>Aat	p.D265N	FUT2_ENST00000391876.4_Missense_Mutation_p.D265N	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	265					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GTTTGCTGGCGATGGCATTGA	0.547													False	0	False	19:49207006	0	A	49207006	G	A	49207006	3	1	88	1	0	0	0	0	1	0	0	0	6146	1058	37	1	795	1	FUT2	19	49207006	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	516	49207006	9921977	18743	26455											
BCAT2	587	broad.mit.edu	37	chr19	49303312	49303312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacccagtccttgtccacttCgatgagccggcggatgcact	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49303312C>T	ENST00000402551.1	-	6	957	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	BCAT2_ENST00000316273.6_Missense_Mutation_p.E153K|BCAT2_ENST00000599246.1_Missense_Mutation_p.E61K|BCAT2_ENST00000545387.2_Missense_Mutation_p.E61K|BCAT2_ENST00000598162.1_Missense_Mutation_p.E153K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E113K	NM_001284325.1	NP_001271254.1	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	153						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	p.E153K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TTGTCCACTTCGATGAGCCGG	0.642													False	0	False	19:49303312	0	T	49303312	C	T	49303312	3	4	88	1	0	0	0	0	1	0	0	0	1359	893	31	1	749	1	BCAT2	19	49303312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96306	49303312	9825671	18744	26456											
PLEKHA4	0	broad.mit.edu	37	chr19	49357476	49357476	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agatcagtgacaacttacatCtgtctccaagctttggtgga	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49357476C>A	ENST00000263265.6	-	10	1648	c.1093G>T	c.(1093-1095)Gat>Tat	p.D365Y	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.D340Y	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	365						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CAACTTACATCTGTCTCCAAG	0.512													False	0	False	19:49357476	0	A	49357476	C	A	49357476	3	1	88	1	0	0	0	0	1	0	0	0	12127	913	32	3	1290	3	PLEKHA4	19	49357476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54164	49357476	9771507	18745	26457											
PLEKHA4	0	broad.mit.edu	37	chr19	49362745	49362745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggggctcctcgccctccGcatctggagtccagagtgga	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49362745G>A	ENST00000263265.6	-	7	1228	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	225	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTCGCCCTCCGCATCTGGAGT	0.637													False	0	False	19:49362745	0	A	49362745	G	A	49362745	3	1	88	1	0	0	0	0	1	0	0	0	12127	1086	38	1	1722	1	PLEKHA4	19	49362745	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5269	49362745	9766238	18746	26458											
PPP1R15A	23645	broad.mit.edu	37	chr19	49377870	49377870	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgattcagaagcagcCttgggagaagctgagtcaga	14	6	2	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49377870C>A	ENST00000200453.5	+	2	1649	c.1380C>A	c.(1378-1380)gcC>gcA	p.A460A		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	460	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CAGAAGCAGCCTTGGGAGAAG	0.562													False	0	False	19:49377870	0	A	49377870	C	A	49377870	2	1	88	1	0	0	0	0	0	0	0	1	12437	668	24	3		3	PPP1R15A	19	49377870	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15125	49377870	9751113	18747	26459											
PPP1R15A	23645	broad.mit.edu	37	chr19	49378030	49378030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagtggccatctatgtaCctggagagaagccaccgcct	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49378030C>T	ENST00000200453.5	+	2	1809	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	514	Interaction with MLL.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	p.P514S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CATCTATGTACCTGGAGAGAA	0.622													False	0	False	19:49378030	0	T	49378030	C	T	49378030	3	4	88	1	0	0	0	0	1	0	0	0	12437	507	18	2	1542	2	PPP1R15A	19	49378030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160	49378030	9750953	18748	26460											
PPP1R15A	23645	broad.mit.edu	37	chr19	49379046	49379046	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacccctgctgcccgggccaGagcctgggcacgcctcagga	13	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49379046G>A	ENST00000200453.5	+	3	2110	c.1841G>A	c.(1840-1842)aGa>aAa	p.R614K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	614					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GCCCGGGCCAGAGCCTGGGCA	0.692													False	0	False	19:49379046	0	A	49379046	G	A	49379046	3	1	88	1	0	0	0	0	1	0	0	0	12437	942	33	2	1847	2	PPP1R15A	19	49379046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1016	49379046	9749937	18749	26461											
GYS1	2997	broad.mit.edu	37	chr19	49473039	49473039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtccactcaccgcatccGcctcgttgggctcgtaggtg	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49473039G>A	ENST00000323798.3	-	15	2079	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	GYS1_ENST00000263276.6_Missense_Mutation_p.A564V|GYS1_ENST00000544287.1_Missense_Mutation_p.A261V|GYS1_ENST00000541188.1_Missense_Mutation_p.A548V	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	628					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CACCGCATCCGCCTCGTTGGG	0.612													False	0	False	19:49473039	0	A	49473039	G	A	49473039	3	1	88	1	0	0	0	0	1	0	0	0	6959	1087	38	1	338	1	GYS1	19	49473039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93993	49473039	9655944	18750	26462											
RUVBL2	10856	broad.mit.edu	37	chr19	49507607	49507607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggagatgatccgggaagGgaagattgccggtcgggcag	19	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49507607G>T	ENST00000413176.2	+	4	1210	c.62G>T	c.(61-63)gGg>gTg	p.G21V	RUVBL2_ENST00000595090.1_Missense_Mutation_p.G66V|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G21V			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	66					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		ATCCGGGAAGGGAAGATTGCC	0.662													False	0	True	19:49507607	0	T	49507607	G	T	49507607	3	4	88	1	0	0	0	0	1	0	0	0	13832	1232	43	3	211	3	RUVBL2	19	49507607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34568	49507607	9621376	18751	26463											
RUVBL2	10856	broad.mit.edu	37	chr19	49510398	49510398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcggtccatcggcgttcGcatcaagtaagcgggggacc	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49510398G>A	ENST00000413176.2	+	5	1402	c.254G>A	c.(253-255)cGc>cAc	p.R85H	RUVBL2_ENST00000595090.1_Missense_Mutation_p.R130H|RUVBL2_ENST00000601968.1_Missense_Mutation_p.R85H			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	130					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		ATCGGCGTTCGCATCAAGTAA	0.657													False	0	False	19:49510398	0	A	49510398	G	A	49510398	3	1	88	1	0	0	0	0	1	0	0	0	13832	1087	38	1	407	1	RUVBL2	19	49510398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2791	49510398	9618585	18752	26464											
RUVBL2	10856	broad.mit.edu	37	chr19	49510577	49510577	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggaggagacggagatcatCgaaggggaggtggtggagat	21	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49510577C>T	ENST00000413176.2	+	6	1427	c.279C>T	c.(277-279)atC>atT	p.I93I	RUVBL2_ENST00000595090.1_Silent_p.I138I|RUVBL2_ENST00000601968.1_Silent_p.I93I			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	138					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGGAGATCATCGAAGGGGAGG	0.582													False	0	False	19:49510577	0	T	49510577	C	T	49510577	2	4	88	1	0	0	0	0	0	0	0	1	13832	874	31	1		1	RUVBL2	19	49510577	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	49510577	9618406	18753	26465											
RUVBL2	10856	broad.mit.edu	37	chr19	49513315	49513315	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgcgactacgacgctatgGgctcccaggtgcggccggga	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49513315G>T	ENST00000413176.2	+	8	1668	c.520G>T	c.(520-522)Ggc>Tgc	p.G174C	RUVBL2_ENST00000595090.1_Missense_Mutation_p.G219C|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G174C			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	219					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGACGCTATGGGCTCCCAGGT	0.652													False	0	True	19:49513315	0	T	49513315	G	T	49513315	3	4	88	1	0	0	0	0	1	0	0	0	13832	1232	43	3	685	3	RUVBL2	19	49513315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2738	49513315	9615668	18754	26466											
CGB1	114335	broad.mit.edu	37	chr19	49539472	49539472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccttctccacagccaggGtggcattgatggggcggcac	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49539472G>A	ENST00000301407.7	-	2	202	c.98C>T	c.(97-99)aCc>aTc	p.T33I	CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Missense_Mutation_p.T33I	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	65						extracellular region	hormone activity			liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CACAGCCAGGGTGGCATTGAT	0.672													False	0	True	19:49539472	0	A	49539472	G	A	49539472	3	1	88	1	0	0	0	0	1	0	0	0	3320	1261	44	2	377	2	CGB1	19	49539472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26157	49539472	9589511	18755	26467											
KCNA7	3743	broad.mit.edu	37	chr19	49573470	49573470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacatcccagcctcttcGccctctgtctcccggtgata	7	17	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49573470G>A	ENST00000221444.1	-	2	1576	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	407						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CAGCCTCTTCGCCCTCTGTCT	0.592													False	0	True	19:49573470	0	A	49573470	G	A	49573470	2	1	88	1	0	0	0	0	0	0	0	1	8058	1074	38	1		1	KCNA7	19	49573470	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33998	49573470	9555513	18756	26468											
KCNA7	3743	broad.mit.edu	37	chr19	49575299	49575299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcaccgggccggctgCggctgcagcagcaagccccg	14	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49575299C>T	ENST00000221444.1	-	1	899	c.544G>A	c.(544-546)Gca>Aca	p.A182T		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	182						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GGGCCGGCTGCGGCTGCAGCA	0.701													False	0	True	19:49575299	0	T	49575299	C	T	49575299	3	4	88	1	0	0	0	0	1	0	0	0	8058	768	27	1	834	1	KCNA7	19	49575299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1829	49575299	9553684	18757	26469											
SNRNP70	6625	broad.mit.edu	37	chr19	49611533	49611533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagcacaaacggggggagCggggcagtgagcggggcagg	23	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49611533C>T	ENST00000221448.5	+	10	1316	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	SNRNP70_ENST00000598441.1_Missense_Mutation_p.R383W	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	383	Arg/Asp/Glu-rich (mixed charge).				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						acggggggagcggggcagtga	0.721													False	0	True	19:49611533	0	T	49611533	C	T	49611533	3	4	88	1	0	0	0	0	1	0	0	0	14938	759	27	1	1181	1	SNRNP70	19	49611533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36234	49611533	9517450	18758	26470											
C19orf73	55150	broad.mit.edu	37	chr19	49621899	49621899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccaagagactagtccgaGggcggagggcggaggcaggg	19	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49621899G>A	ENST00000408991.2	-	1	498	c.381C>T	c.(379-381)ccC>ccT	p.P127P		NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	127										large_intestine(1)|lung(2)	3						ACTAGTCCGAGGGCGGAGGGC	0.597													False	0	True	19:49621899	0	A	49621899	G	A	49621899	2	1	88	1	0	0	0	0	0	0	0	1	1963	987	35	2		2	C19orf73	19	49621899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10366	49621899	9507084	18759	26471											
PPFIA3	8541	broad.mit.edu	37	chr19	49632175	49632175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcatgaccgtggtgaagcGccaggcccagtccccgggtg	16	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49632175G>A	ENST00000334186.4	+	4	762	c.413G>A	c.(412-414)cGc>cAc	p.R138H	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R138H	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	138						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGGTGAAGCGCCAGGCCCAG	0.597													False	0	False	19:49632175	0	A	49632175	G	A	49632175	3	1	88	1	0	0	0	0	1	0	0	0	12380	1087	38	1	423	1	PPFIA3	19	49632175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10276	49632175	9496808	18760	26472											
HRC	3270	broad.mit.edu	37	chr19	49655301	49655301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccagcgggcagagataGcagaactgacagtgctggag	15	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49655301G>A	ENST00000252825.4	-	4	2172	c.1986C>T	c.(1984-1986)tgC>tgT	p.C662C	HRC_ENST00000595625.1_Silent_p.C639C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	662	Metal-binding (Potential).				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCAGAGATAGCAGAACTGAC	0.677													False	0	False	19:49655301	0	A	49655301	G	A	49655301	2	1	88	1	0	0	0	0	0	0	0	1	7399	963	34	2		2	HRC	19	49655301	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23126	49655301	9473682	18761	26473											
HRC	3270	broad.mit.edu	37	chr19	49656971	49656971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggctgccatgatgggtGcctttctctccctgctctga	10	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49656971G>A	ENST00000252825.4	-	1	1710	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	HRC_ENST00000595625.1_Silent_p.G508G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	508					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATGATGGGTGCCTTTCTCTC	0.552													False	0	False	19:49656971	0	A	49656971	G	A	49656971	2	1	88	1	0	0	0	0	0	0	0	1	7399	1306	46	2		2	HRC	19	49656971	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1670	49656971	9472012	18762	26474											
HRC	3270	broad.mit.edu	37	chr19	49657295	49657295	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggaagtcctcttcatcactCttgtggcctcgaggttggtg	12	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49657295C>T	ENST00000252825.4	-	1	1386	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	HRC_ENST00000595625.1_Silent_p.K400K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	400					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTTCATCACTCTTGTGGCCTC	0.517													False	0	False	19:49657295	0	T	49657295	C	T	49657295	2	4	88	1	0	0	0	0	0	0	0	1	7399	912	32	2		2	HRC	19	49657295	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	324	49657295	9471688	18763	26475											
HRC	3270	broad.mit.edu	37	chr19	49658323	49658323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggctgtggaggtggtggcGaagctctgctgatgcctcct	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49658323G>A	ENST00000252825.4	-	1	358	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	HRC_ENST00000595625.1_Missense_Mutation_p.R58C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	58					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		AGGTGGTGGCGAAGCTCTGCT	0.577													False	0	False	19:49658323	0	A	49658323	G	A	49658323	3	1	88	1	0	0	0	0	1	0	0	0	7399	1058	37	1	1951	1	HRC	19	49658323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1028	49658323	9470660	18764	26476											
TRPM4	54795	broad.mit.edu	37	chr19	49675021	49675021	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaccttgaggtcctgcagGcccaggtatgacactggggg	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49675021G>T	ENST00000252826.5	+	8	1171	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S	TRPM4_ENST00000427978.2_Missense_Mutation_p.A349S|TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_Missense_Mutation_p.A66S	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	349					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGTCCTGCAGGCCCAGGTATG	0.642													False	0	True	19:49675021	0	T	49675021	G	T	49675021	3	4	88	1	0	0	0	0	1	0	0	0	16671	1203	42	3	1075	3	TRPM4	19	49675021	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16698	49675021	9453962	18765	26477											
TRPM4	54795	broad.mit.edu	37	chr19	49703979	49703979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacttcccaagtatcctgCgccgcgtcttctaccgtccc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49703979C>T	ENST00000252826.5	+	19	3016	c.2890C>T	c.(2890-2892)Cgc>Tgc	p.R964C	TRPM4_ENST00000427978.2_Missense_Mutation_p.R819C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R610C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	964					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AAGTATCCTGCGCCGCGTCTT	0.617													False	0	False	19:49703979	0	T	49703979	C	T	49703979	3	4	88	1	0	0	0	0	1	0	0	0	16671	768	27	1	2964	1	TRPM4	19	49703979	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28958	49703979	9425004	18766	26478											
TRPM4	54795	broad.mit.edu	37	chr19	49713653	49713653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccgtcctccccggccctcGagcatttccgtaagaacaga	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49713653G>A	ENST00000252826.5	+	21	3445	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	TRPM4_ENST00000427978.2_Missense_Mutation_p.E962K|TRPM4_ENST00000355712.5_Missense_Mutation_p.E753K	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1107	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCGGCCCTCGAGCATTTCCG	0.622													False	0	False	19:49713653	0	A	49713653	G	A	49713653	3	1	88	1	0	0	0	0	1	0	0	0	16671	1059	37	1	3401	1	TRPM4	19	49713653	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9674	49713653	9415330	18767	26479											
SLC6A16	28968	broad.mit.edu	37	chr19	49812269	49812269	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagacagttgttggactgggGcatgtaggaggctaaggagg	19	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49812269G>T	ENST00000454748.3	-	7	1294	c.1093C>A	c.(1093-1095)Ccc>Acc	p.P365T	SLC6A16_ENST00000335875.4_Missense_Mutation_p.P365T			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	365						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TTGGACTGGGGCATGTAGGAG	0.488													False	0	True	19:49812269	0	T	49812269	G	T	49812269	3	4	88	1	0	0	0	0	1	0	0	0	14759	1203	42	3	1141	3	SLC6A16	19	49812269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98616	49812269	9316714	18768	26480											
TEAD2	8463	broad.mit.edu	37	chr19	49850619	49850619	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgaacaggtgcctctggTactgaggagggttggccgtg	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49850619T>C	ENST00000377214.4	-	8	1108	c.746A>G	c.(745-747)tAc>tGc	p.Y249C	TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000593945.1_Splice_Site_p.Y250C|TEAD2_ENST00000598810.1_Splice_Site_p.Y250C|TEAD2_ENST00000539846.1_Splice_Site_p.Y118C|TEAD2_ENST00000311227.2_Splice_Site_p.Y246C|TEAD2_ENST00000601519.1_Splice_Site_p.Y249C			Q15562	TEAD2_HUMAN	TEA domain family member 2	246	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GTGCCTCTGGTACTGAGGAGG	0.632													False	0	False	19:49850619	0	C	49850619	T	C	49850619	5	2	88	1	0	0	0	0	0	0	1	0	15821	1652	57	4	622	4	TEAD2	19	49850619	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38350	49850619	9278364	18769	26481											
DKKL1	27120	broad.mit.edu	37	chr19	49878129	49878129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggcggccactggctcagCgagaagcgacaccgcctgca	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49878129C>T	ENST00000221498.2	+	5	978	c.573C>T	c.(571-573)agC>agT	p.S191S	DKKL1_ENST00000594268.1_Silent_p.S49S|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	191					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		ACTGGCTCAGCGAGAAGCGAC	0.657													False	0	False	19:49878129	0	T	49878129	C	T	49878129	2	4	88	1	0	0	0	0	0	0	0	1	4578	767	27	1		1	DKKL1	19	49878129	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27510	49878129	9250854	18770	26482											
SLC17A7	57030	broad.mit.edu	37	chr19	49938140	49938140	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caatagcaaagccgaaaactCtgatgggaagggtcagagaa	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49938140C>A	ENST00000221485.3	-	4	606		c.e4-1		SLC17A7_ENST00000600601.1_Splice_Site|SLC17A7_ENST00000543531.1_Splice_Site	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7						glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCCGAAAACTCTGATGGGAAG	0.562													False	0	False	19:49938140	0	A	49938140	C	A	49938140	5	1	88	1	0	0	0	0	0	0	1	0	14503	927	32	3	1284	3	SLC17A7	19	49938140	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60011	49938140	9190843	18771	26483											
PIH1D1	55011	broad.mit.edu	37	chr19	49952887	49952887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgaaaaccttcccttccGaggagttggtctttatgcag	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49952887G>A	ENST00000262265.5	-	3	417	c.182C>T	c.(181-183)tCg>tTg	p.S61L	PIH1D1_ENST00000596049.1_Missense_Mutation_p.S61L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	61					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CTTCCCTTCCGAGGAGTTGGT	0.542													False	0	False	19:49952887	0	A	49952887	G	A	49952887	3	1	88	1	0	0	0	0	1	0	0	0	11975	1059	37	1	718	1	PIH1D1	19	49952887	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14747	49952887	9176096	18772	26484											
PIH1D1	55011	broad.mit.edu	37	chr19	49954801	49954801	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgcctccgcctcgcttaGccccattcccagcagcttcg	8	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49954801G>A	ENST00000262265.5	-	1	266	c.31C>T	c.(31-33)Cta>Tta	p.L11L	PIH1D1_ENST00000596049.1_Silent_p.L11L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	11					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCCTCGCTTAGCCCCATTCCC	0.612													False	0	True	19:49954801	0	A	49954801	G	A	49954801	2	1	88	1	0	0	0	0	0	0	0	1	11975	962	34	2		2	PIH1D1	19	49954801	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1914	49954801	9174182	18773	26485											
ALDH16A1	126133	broad.mit.edu	37	chr19	49965961	49965961	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccggggggctgccgcAtgtgacctggtccagcgctt	18	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49965961A>G	ENST00000293350.4	+	8	1210	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	ALDH16A1_ENST00000433981.2_Silent_p.A184A|ALDH16A1_ENST00000455361.2_Silent_p.A298A|ALDH16A1_ENST00000540132.1_Silent_p.A186A	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	349							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGGCTGCCGCATGTGACCTGG	0.697													False	0	False	19:49965961	0	G	49965961	A	G	49965961	2	3	88	1	0	0	0	0	0	0	0	1	488	204	8	4		4	ALDH16A1	19	49965961	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11160	49965961	9163022	18774	26486											
ALDH16A1	126133	broad.mit.edu	37	chr19	49969029	49969029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggctcttcgttgggggcCgtttccaggctcctggggcc	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49969029C>T	ENST00000293350.4	+	13	1766	c.1603C>T	c.(1603-1605)Cgt>Tgt	p.R535C	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R370C|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R484C|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R372C|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	535							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGTTGGGGGCCGTTTCCAGGC	0.642													False	0	False	19:49969029	0	T	49969029	C	T	49969029	3	4	88	1	0	0	0	0	1	0	0	0	488	652	23	1	1653	1	ALDH16A1	19	49969029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3068	49969029	9159954	18775	26487											
ALDH16A1	126133	broad.mit.edu	37	chr19	49971803	49971803	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcggcctgtcctctgCtggccctggaggtctgccag	14	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49971803C>A	ENST00000293350.4	+	15	2267	c.2104C>A	c.(2104-2106)Ctg>Atg	p.L702M	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.L537M|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.L651M|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.L539M|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	702							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTGTCCTCTGCTGGCCCTGGA	0.667													False	0	False	19:49971803	0	A	49971803	C	A	49971803	3	1	88	1	0	0	0	0	1	0	0	0	488	796	28	3	2162	3	ALDH16A1	19	49971803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2774	49971803	9157180	18776	26488											
RPS11	6205	broad.mit.edu	37	chr19	50001263	50001263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacaaccgcttcgagaagCgccacaagaacatgtctgta	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50001263C>T	ENST00000270625.2	+	4	396	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	RPS11_ENST00000599561.1_Missense_Mutation_p.A70V|RPS11_ENST00000596873.1_Missense_Mutation_p.R105C|RPS11_ENST00000594493.1_Missense_Mutation_p.R26C	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	105					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CTTCGAGAAGCGCCACAAGAA	0.567													False	0	False	19:50001263	0	T	50001263	C	T	50001263	3	4	88	1	0	0	0	0	1	0	0	0	13700	768	27	1	327	1	RPS11	19	50001263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29460	50001263	9127720	18777	26489											
FCGRT	2217	broad.mit.edu	37	chr19	50027917	50027917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtgacttcggccccaAcagtgacggatccttccacg	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50027917A>G	ENST00000221466.5	+	5	1241	c.755A>G	c.(754-756)aAc>aGc	p.N252S	FCGRT_ENST00000596975.1_Missense_Mutation_p.N160S|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Missense_Mutation_p.N252S|FCGRT_ENST00000594823.1_3'UTR	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	252	Alpha-3.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TTCGGCCCCAACAGTGACGGA	0.632													False	0	False	19:50027917	0	G	50027917	A	G	50027917	3	3	88	1	0	0	0	0	1	0	0	0	5826	43	2	4	769	4	FCGRT	19	50027917	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26654	50027917	9101066	18778	26490											
RCN3	57333	broad.mit.edu	37	chr19	50045888	50045888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagttccgggacttccGggatctgaacaaggatgggc	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50045888G>A	ENST00000270645.3	+	6	1205	c.758G>A	c.(757-759)cGg>cAg	p.R253Q		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	253	EF-hand 5.					endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CGGGACTTCCGGGATCTGAAC	0.682													False	0	True	19:50045888	0	A	50045888	G	A	50045888	3	1	88	1	0	0	0	0	1	0	0	0	13260	1116	39	1	776	1	RCN3	19	50045888	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17971	50045888	9083095	18779	26491											
NOSIP	0	broad.mit.edu	37	chr19	50060162	50060162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttggtggccttggcttcGggcgtcagcgacgggatcca	16	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50060162G>A	ENST00000391853.3	-	7	658	c.507C>T	c.(505-507)ccC>ccT	p.P169P	NOSIP_ENST00000596358.1_Silent_p.P169P|NOSIP_ENST00000339093.3_Silent_p.P172P	NM_015953.4	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	169					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CCTTGGCTTCGGGCGTCAGCG	0.662													False	0	True	19:50060162	0	A	50060162	G	A	50060162	2	1	88	1	0	0	0	0	0	0	0	1	10613	1103	39	1		1	NOSIP	19	50060162	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14274	50060162	9068821	18780	26492											
NOSIP	0	broad.mit.edu	37	chr19	50060441	50060441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagccccgcacatggtcCtgcgaggccgcccgctgaag	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50060441C>A	ENST00000391853.3	-	6	475	c.324G>T	c.(322-324)caG>caT	p.Q108H	NOSIP_ENST00000596358.1_Missense_Mutation_p.Q108H|NOSIP_ENST00000339093.3_Missense_Mutation_p.Q108H	NM_015953.4	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	108					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		GCACATGGTCCTGCGAGGCCG	0.677													False	0	False	19:50060441	0	A	50060441	C	A	50060441	3	1	88	1	0	0	0	0	1	0	0	0	10613	680	24	3	601	3	NOSIP	19	50060441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279	50060441	9068542	18781	26493											
PRR12	57479	broad.mit.edu	37	chr19	50098064	50098064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaacacccggcttccttcGgcagccgccccttcccagtg	8	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50098064G>A	ENST00000418929.2	+	4	484	c.472G>A	c.(472-474)Ggc>Agc	p.G158S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	571	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCTTCCTTCGGCAGCCGCCC	0.667													False	0	True	19:50098064	0	A	50098064	G	A	50098064	3	1	88	1	0	0	0	0	1	0	0	0	12660	1116	39	1	486	1	PRR12	19	50098064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37623	50098064	9030919	18782	26494											
PRR12	57479	broad.mit.edu	37	chr19	50098142	50098142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctaacgggctcctgTcccctcatgacgtgctgcac	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50098142T>C	ENST00000418929.2	+	4	562	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	596	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGGCTCCTGTCCCCTCATGA	0.682													False	0	True	19:50098142	0	C	50098142	T	C	50098142	3	2	88	1	0	0	0	0	1	0	0	0	12660	1667	58	4	564	4	PRR12	19	50098142	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78	50098142	9030841	18783	26495											
PRR12	57479	broad.mit.edu	37	chr19	50099477	50099477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggagctgctggcgggcccaGgtgggcctcctgcggagcgc	19	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50099477G>T	ENST00000418929.2	+	4	1897	c.1885G>T	c.(1885-1887)Ggt>Tgt	p.G629C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	393	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCGGGCCCAGGTGGGCCTCC	0.682													False	0	False	19:50099477	0	T	50099477	G	T	50099477	3	4	88	1	0	0	0	0	1	0	0	0	12660	1000	35	3	1899	3	PRR12	19	50099477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1335	50099477	9029506	18784	26496											
SCAF1	58506	broad.mit.edu	37	chr19	50161056	50161056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaggagcgggcggtggaGgaggtgaagctggccatcaa	19	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50161056G>A	ENST00000360565.3	+	10	3781	c.3657G>A	c.(3655-3657)gaG>gaA	p.E1219E		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1219	Necessary for interaction with the CTD domain of POLR2A.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGGCGGTGGAGGAGGTGAAGC	0.597													False	0	False	19:50161056	0	A	50161056	G	A	50161056	2	1	88	1	0	0	0	0	0	0	0	1	13948	991	35	2		2	SCAF1	19	50161056	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61579	50161056	8967927	18785	26497											
IRF3	3661	broad.mit.edu	37	chr19	50166680	50166680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaacgcaacccttctttgCggttgagggcagagcggaaa	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50166680C>T	ENST00000597198.1	-	3	638	c.257G>A	c.(256-258)cGc>cAc	p.R86H	IRF3_ENST00000599223.1_Missense_Mutation_p.R86H|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000601291.1_Missense_Mutation_p.R86H|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000377139.3_Missense_Mutation_p.R86H|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000377135.4_Missense_Mutation_p.R86H|IRF3_ENST00000600911.1_Missense_Mutation_p.R86H|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000309877.7_Missense_Mutation_p.R86H|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000442265.2_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	86					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CCCTTCTTTGCGGTTGAGGGC	0.577													False	0	False	19:50166680	0	T	50166680	C	T	50166680	3	4	88	1	0	0	0	0	1	0	0	0	7881	768	27	1	1050	1	IRF3	19	50166680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5624	50166680	8962303	18786	26498											
CPT1C	126129	broad.mit.edu	37	chr19	50203964	50203964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacaacaccacgggctccGgggggtcctggcagccgcgc	16	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50203964G>A	ENST00000392518.4	+	5	677	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	CPT1C_ENST00000354199.5_Missense_Mutation_p.R102Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.R102Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.R102Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.R102Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	102					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CACGGGCTCCGGGGGGTCCTG	0.672													False	0	True	19:50203964	0	A	50203964	G	A	50203964	3	1	88	1	0	0	0	0	1	0	0	0	3856	1116	39	1	315	1	CPT1C	19	50203964	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37284	50203964	8925019	18787	26499											
CPT1C	126129	broad.mit.edu	37	chr19	50216321	50216321	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaatcaagcacaaaaacGgtgagacaaacgtgtatacc	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50216321G>A	ENST00000392518.4	+	19	2598	c.2226G>A	c.(2224-2226)acG>acA	p.T742T	CPT1C_ENST00000354199.5_Splice_Site_p.T653T|CPT1C_ENST00000405931.2_Splice_Site_p.T731T|CPT1C_ENST00000323446.5_Splice_Site_p.T742T|CPT1C_ENST00000598293.1_Splice_Site_p.T742T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	742					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCACAAAAACGGTGAGACAAA	0.527													False	0	False	19:50216321	0	A	50216321	G	A	50216321	5	1	88	1	0	0	0	0	0	0	1	0	3856	1130	39	1	2292	1	CPT1C	19	50216321	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12357	50216321	8912662	18788	26500											
TSKS	60385	broad.mit.edu	37	chr19	50243181	50243181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagatggtccagagtggccAtcttctccctgtcatgaggc	12	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50243181A>G	ENST00000246801.3	-	11	1713	c.1631T>C	c.(1630-1632)aTg>aCg	p.M544T	TSKS_ENST00000358830.3_Missense_Mutation_p.M344T	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	544							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CAGAGTGGCCATCTTCTCCCT	0.592													False	0	False	19:50243181	0	G	50243181	A	G	50243181	3	3	88	1	0	0	0	0	1	0	0	0	16709	217	8	4	151	4	TSKS	19	50243181	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26860	50243181	8885802	18789	26501											
TSKS	60385	broad.mit.edu	37	chr19	50249836	50249836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggggaccaggccgtgtgGccgcgagggtttgtcgggac	20	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50249836G>A	ENST00000246801.3	-	6	965	c.883C>T	c.(883-885)Cca>Tca	p.P295S	TSKS_ENST00000358830.3_Missense_Mutation_p.P95S	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	295							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGCCGTGTGGCCGCGAGGGT	0.721													False	0	False	19:50249836	0	A	50249836	G	A	50249836	3	1	88	1	0	0	0	0	1	0	0	0	16709	1203	42	2	919	2	TSKS	19	50249836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6655	50249836	8879147	18790	26502											
FUZ	80199	broad.mit.edu	37	chr19	50314697	50314697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgagctccgagtcccccaGgaagctgtcgatgaggcaat	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50314697G>T	ENST00000313777.4	-	5	578	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	FUZ_ENST00000445575.2_Missense_Mutation_p.L139M|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000528094.1_Missense_Mutation_p.L103M|FUZ_ENST00000533418.1_Missense_Mutation_p.L89M	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	139					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GAGTCCCCCAGGAAGCTGTCG	0.582													False	0	False	19:50314697	0	T	50314697	G	T	50314697	3	4	88	1	0	0	0	0	1	0	0	0	6154	991	35	3	869	3	FUZ	19	50314697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64861	50314697	8814286	18791	26503											
MED25	81857	broad.mit.edu	37	chr19	50321657	50321657	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtggccgacgtggtgtTtgtgattgagggtacggcca	18	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50321657T>A	ENST00000312865.6	+	1	112	c.59T>A	c.(58-60)tTt>tAt	p.F20Y	MED25_ENST00000538643.1_Missense_Mutation_p.F20Y	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	20	Interaction with the Mediator complex.			F -> S (in Ref. 1; AAM20739).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GACGTGGTGTTTGTGATTGAG	0.682													False	0	True	19:50321657	0	A	50321657	T	A	50321657	3	1	88	1	0	0	0	0	1	0	0	0	9510	1841	64	5	61	5	MED25	19	50321657	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6960	50321657	8807326	18792	26504											
PTOV1	53635	broad.mit.edu	37	chr19	50357694	50357694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttcggggcactgggtcCcatcggtccctcctcacctg	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50357694C>A	ENST00000391842.1	+	2	373	c.203C>A	c.(202-204)cCc>cAc	p.P68H	PTOV1_ENST00000601675.1_Missense_Mutation_p.P68H|PTOV1_ENST00000221557.9_Missense_Mutation_p.P36H|PTOV1_ENST00000601638.1_Missense_Mutation_p.P36H|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000600603.1_Missense_Mutation_p.P36H|PTOV1_ENST00000599732.1_Missense_Mutation_p.P68H|PTOV1_ENST00000598325.1_3'UTR	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCACTGGGTCCCATCGGTCCC	0.667													False	0	True	19:50357694	0	A	50357694	C	A	50357694	3	1	88	1	0	0	0	0	1	0	0	0	12846	623	22	3	209	3	PTOV1	19	50357694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36037	50357694	8771289	18793	26505											
PTOV1	53635	broad.mit.edu	37	chr19	50358292	50358292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcaccaacagagactgCgactcgctcaaggggctctg	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50358292C>T	ENST00000391842.1	+	5	686	c.516C>T	c.(514-516)tgC>tgT	p.C172C	PTOV1_ENST00000601675.1_Silent_p.C172C|PTOV1_ENST00000221557.9_Silent_p.C140C|PTOV1_ENST00000601638.1_Silent_p.C140C|PTOV1_ENST00000600603.1_Silent_p.C140C|PTOV1_ENST00000599732.1_Silent_p.C172C|PTOV1_ENST00000598325.1_3'UTR	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ACAGAGACTGCGACTCGCTCA	0.637													False	0	False	19:50358292	0	T	50358292	C	T	50358292	2	4	88	1	0	0	0	0	0	0	0	1	12846	776	27	1		1	PTOV1	19	50358292	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	598	50358292	8770691	18794	26506											
TBC1D17	79735	broad.mit.edu	37	chr19	50386980	50386980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcggagaaactcacttctGcatggataccgcagcctcat	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50386980G>A	ENST00000221543.5	+	10	1403	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	TBC1D17_ENST00000535102.2_Silent_p.L335L	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	368	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		ACTCACTTCTGCATGGATACC	0.557													False	0	False	19:50386980	0	A	50386980	G	A	50386980	2	1	88	1	0	0	0	0	0	0	0	1	15688	1306	46	2		2	TBC1D17	19	50386980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28688	50386980	8742003	18795	26507											
TBC1D17	79735	broad.mit.edu	37	chr19	50387800	50387800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttctggtgtttctgtgGcttcatggagctcgtggtga	14	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50387800G>A	ENST00000221543.5	+	12	1627	c.1328G>A	c.(1327-1329)gGc>gAc	p.G443D	TBC1D17_ENST00000535102.2_Missense_Mutation_p.G410D	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	443	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TGTTTCTGTGGCTTCATGGAG	0.592													False	0	False	19:50387800	0	A	50387800	G	A	50387800	3	1	88	1	0	0	0	0	1	0	0	0	15688	1203	42	2	1374	2	TBC1D17	19	50387800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	820	50387800	8741183	18796	26508											
IL4I1	259307	broad.mit.edu	37	chr19	50393095	50393095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcggggctggccgtgtcCgatgcaggccccttccggct	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50393095C>T	ENST00000595948.1	-	10	2222	c.1602G>A	c.(1600-1602)tcG>tcA	p.S534S	IL4I1_ENST00000341114.3_Silent_p.S534S|IL4I1_ENST00000391826.2_Silent_p.S512S	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	512						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		TGGCCGTGTCCGATGCAGGCC	0.692													False	0	False	19:50393095	0	T	50393095	C	T	50393095	2	4	88	1	0	0	0	0	0	0	0	1	7747	639	23	1		1	IL4I1	19	50393095	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5295	50393095	8735888	18797	26509											
NUP62	23636	broad.mit.edu	37	chr19	50412726	50412726	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgctgcccagcccaaaGccgctggggtttgccatggc	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50412726G>T	ENST00000596217.1	-	2	2226	c.339C>A	c.(337-339)ggC>ggA	p.G113G	IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Silent_p.G113G|NUP62_ENST00000597029.1_Silent_p.G113G|NUP62_ENST00000413454.1_Silent_p.G113G|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000352066.3_Silent_p.G113G|NUP62_ENST00000422090.2_Silent_p.G113G			P37198	NUP62_HUMAN	nucleoporin 62kDa	113	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCAGCCCAAAGCCGCTGGGGT	0.592													False	0	True	19:50412726	0	T	50412726	G	T	50412726	2	4	88	1	0	0	0	0	0	0	0	1	10836	958	34	3		3	NUP62	19	50412726	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19631	50412726	8716257	18798	26510											
ZNF473	25888	broad.mit.edu	37	chr19	50548036	50548036	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcttctggaactccaatttCggagaagcctgtatagagga	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50548036C>T	ENST00000595661.1	+	6	831	c.336C>T	c.(334-336)ttC>ttT	p.F112F	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.F112F|ZNF473_ENST00000445728.3_Silent_p.F100F|ZNF473_ENST00000391821.2_Silent_p.F112F			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	112					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ACTCCAATTTCGGAGAAGCCT	0.473													False	0	True	19:50548036	0	T	50548036	C	T	50548036	2	4	88	1	0	0	0	0	0	0	0	1	18014	883	31	1		1	ZNF473	19	50548036	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135310	50548036	8580947	18799	26511											
ZNF473	25888	broad.mit.edu	37	chr19	50548627	50548627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgacacacagcctggtgaGcatcagaaaactcacacaga	8	12	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50548627G>A	ENST00000595661.1	+	6	1422	c.927G>A	c.(925-927)gaG>gaA	p.E309E	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.E309E|ZNF473_ENST00000445728.3_Silent_p.E297E|ZNF473_ENST00000391821.2_Silent_p.E309E			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	309			E -> G (in dbSNP:rs16981706).		histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGCCTGGTGAGCATCAGAAAA	0.473													False	0	False	19:50548627	0	A	50548627	G	A	50548627	2	1	88	1	0	0	0	0	0	0	0	1	18014	962	34	2		2	ZNF473	19	50548627	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	591	50548627	8580356	18800	26512											
ZNF473	25888	broad.mit.edu	37	chr19	50549780	50549780	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaccttgttcagcatgagCgaactcatgccagaaagaag	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50549780C>T	ENST00000595661.1	+	6	2575	c.2080C>T	c.(2080-2082)Cga>Tga	p.R694*	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.R694*|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.R682*|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.R694*			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	694					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	p.R694*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGCATGAGCGAACTCATGC	0.453													False	0	False	19:50549780	0	T	50549780	C	T	50549780	4	4	88	1	0	0	0	0	0	1	0	0	18014	760	27	1	2094	1	ZNF473	19	50549780	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1153	50549780	8579203	18801	26513											
ZNF473	25888	broad.mit.edu	37	chr19	50549918	50549918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attactgcgggaaggccttcGgcctgagtgctgagcttgtc	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50549918G>A	ENST00000595661.1	+	6	2713	c.2218G>A	c.(2218-2220)Ggc>Agc	p.G740S	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.G740S|ZNF473_ENST00000445728.3_Missense_Mutation_p.G728S|ZNF473_ENST00000391821.2_Missense_Mutation_p.G740S			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	740					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GAAGGCCTTCGGCCTGAGTGC	0.512											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:50549918	0	A	50549918	G	A	50549918	3	1	88	1	0	0	0	0	1	0	0	0	18014	1116	39	1	2232	1	ZNF473	19	50549918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138	50549918	8579065	18802	26514											
MYH14	79784	broad.mit.edu	37	chr19	50726596	50726596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaaagggcaggaaggagcCgggtgtccccgtaagcaacc	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50726596C>A	ENST00000440075.2	+	5	730	c.683C>A	c.(682-684)cCg>cAg	p.P228Q	MYH14_ENST00000601313.1_Missense_Mutation_p.P228Q|MYH14_ENST00000596571.1_Missense_Mutation_p.P228Q|MYH14_ENST00000262269.8_Missense_Mutation_p.P228Q|MYH14_ENST00000425460.1_Missense_Mutation_p.P228Q|MYH14_ENST00000376970.2_Missense_Mutation_p.P228Q|MYH14_ENST00000598205.1_Missense_Mutation_p.P228Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	228	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGAAGGAGCCGGGTGTCCCC	0.627													False	0	True	19:50726596	0	A	50726596	C	A	50726596	3	1	88	1	0	0	0	0	1	0	0	0	10100	652	23	3	697	3	MYH14	19	50726596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176678	50726596	8402387	18803	26515											
MYH14	79784	broad.mit.edu	37	chr19	50792804	50792804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccgaggatgccaagctgCgtctggaggtgactgtgcag	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50792804C>T	ENST00000440075.2	+	35	4911	c.4864C>T	c.(4864-4866)Cgt>Tgt	p.R1622C	MYH14_ENST00000601313.1_Missense_Mutation_p.R1622C|MYH14_ENST00000596571.1_Missense_Mutation_p.R1581C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1622C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1589C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1614C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1589C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1581					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGCCAAGCTGCGTCTGGAGGT	0.617													False	0	False	19:50792804	0	T	50792804	C	T	50792804	3	4	88	1	0	0	0	0	1	0	0	0	10100	768	27	1	4998	1	MYH14	19	50792804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66208	50792804	8336179	18804	26516											
MYH14	79784	broad.mit.edu	37	chr19	50796920	50796920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcggagctgctcaatgaCcgctaccgcaagctgctcct	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50796920C>T	ENST00000440075.2	+	39	5492	c.5445C>T	c.(5443-5445)gaC>gaT	p.D1815D	MYH14_ENST00000601313.1_Silent_p.D1815D|MYH14_ENST00000596571.1_Silent_p.D1774D|MYH14_ENST00000262269.8_Silent_p.D1815D|MYH14_ENST00000425460.1_Silent_p.D1782D|MYH14_ENST00000376970.2_Silent_p.D1807D|MYH14_ENST00000598205.1_Silent_p.D1782D			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1774					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGCTCAATGACCGCTACCGCA	0.612													False	0	False	19:50796920	0	T	50796920	C	T	50796920	2	4	88	1	0	0	0	0	0	0	0	1	10100	506	18	2		2	MYH14	19	50796920	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4116	50796920	8332063	18805	26517											
MYH14	79784	broad.mit.edu	37	chr19	50804952	50804952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagctgtcagctgagcGcagtttctcagccaaggcag	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50804952G>A	ENST00000440075.2	+	40	5551	c.5504G>A	c.(5503-5505)cGc>cAc	p.R1835H	MYH14_ENST00000601313.1_Missense_Mutation_p.R1835H|MYH14_ENST00000596571.1_Missense_Mutation_p.R1794H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1835H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1802H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1827H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1802H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1794					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCAGCTGAGCGCAGTTTCTCA	0.612													False	0	False	19:50804952	0	A	50804952	G	A	50804952	3	1	88	1	0	0	0	0	1	0	0	0	10100	1087	38	1	5658	1	MYH14	19	50804952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8032	50804952	8324031	18806	26518											
NAPSA	9476	broad.mit.edu	37	chr19	50862018	50862018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaccggacaagcagaggCggacgccatttcgagtagtc	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50862018C>T	ENST00000253719.2	-	9	1263	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	352					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CAAGCAGAGGCGGACGCCATT	0.632													False	0	False	19:50862018	0	T	50862018	C	T	50862018	3	4	88	1	0	0	0	0	1	0	0	0	10233	768	27	1	211	1	NAPSA	19	50862018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57066	50862018	8266965	18807	26519											
NR1H2	7376	broad.mit.edu	37	chr19	50881936	50881936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaggcaggcagccagggCtccggggaaggcgagggtgt	20	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50881936C>T	ENST00000253727.5	+	6	865	c.630C>T	c.(628-630)ggC>ggT	p.G210G	NR1H2_ENST00000411902.2_Silent_p.G113G|NR1H2_ENST00000598168.1_Silent_p.G210G|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000599105.1_Silent_p.G210G|NR1H2_ENST00000593926.1_Silent_p.G210G	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	210					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCAGCCAGGGCTCCGGGGAAG	0.642													False	0	True	19:50881936	0	T	50881936	C	T	50881936	2	4	88	1	0	0	0	0	0	0	0	1	10685	784	28	2		2	NR1H2	19	50881936	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19918	50881936	8247047	18808	26520											
POLD1	5424	broad.mit.edu	37	chr19	50905960	50905960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcattgcgcccttgcGcgtgctcagcttcgatatcg	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50905960G>A	ENST00000440232.2	+	8	985	c.932G>A	c.(931-933)cGc>cAc	p.R311H	POLD1_ENST00000599857.1_Missense_Mutation_p.R311H|POLD1_ENST00000595904.1_Missense_Mutation_p.R311H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	311					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCCCTTGCGCGTGCTCAGC	0.672								DNA polymerases (catalytic subunits)					False	0	False	19:50905960	0	A	50905960	G	A	50905960	3	1	88	1	0	0	0	0	1	0	0	0	12259	1087	38	1	958	1	POLD1	19	50905960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24024	50905960	8223023	18809	26521											
MYBPC2	4606	broad.mit.edu	37	chr19	50944251	50944251	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagagcgagtacgagaaaatCgccttccagtatggcatcac	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50944251C>T	ENST00000357701.5	+	8	738	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	229					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACGAGAAAATCGCCTTCCAGT	0.542													False	0	False	19:50944251	0	T	50944251	C	T	50944251	2	4	88	1	0	0	0	0	0	0	0	1	10079	874	31	1		1	MYBPC2	19	50944251	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38291	50944251	8184732	18810	26522											
MYBPC2	4606	broad.mit.edu	37	chr19	50958825	50958825	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacagacaccaccaccacActcaagtggaggcctccgaa	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50958825A>G	ENST00000357701.5	+	20	2313	c.2262A>G	c.(2260-2262)acA>acG	p.T754T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	754	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCACCACCACACTCAAGTGGA	0.592													False	0	True	19:50958825	0	G	50958825	A	G	50958825	2	3	88	1	0	0	0	0	0	0	0	1	10079	146	6	4		4	MYBPC2	19	50958825	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14574	50958825	8170158	18811	26523											
JOSD2	126119	broad.mit.edu	37	chr19	51010878	51010878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccagcccctgcagagcGgccatgatcacattgacatc	10	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51010878G>A	ENST00000598418.1	-	3	478	c.225C>T	c.(223-225)gcC>gcT	p.A75A	JOSD2_ENST00000601423.1_Silent_p.A75A|JOSD2_ENST00000391815.3_Silent_p.A75A|JOSD2_ENST00000595669.1_Intron	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	75	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		CCTGCAGAGCGGCCATGATCA	0.667													False	0	False	19:51010878	0	A	51010878	G	A	51010878	2	1	88	1	0	0	0	0	0	0	0	1	8009	1103	39	1		1	JOSD2	19	51010878	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52053	51010878	8118105	18812	26524											
LRRC4B	94030	broad.mit.edu	37	chr19	51021414	51021414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccaccccagacaccgTctgtcgtgggccctggcggt	13	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021414T>C	ENST00000599957.1	-	3	1753	c.1556A>G	c.(1555-1557)gAc>gGc	p.D519G	LRRC4B_ENST00000389201.3_Missense_Mutation_p.D519G			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	519	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGACACCGTCTGTCGTGGG	0.741													False	0	False	19:51021414	0	C	51021414	T	C	51021414	3	2	88	1	0	0	0	0	1	0	0	0	9069	1667	58	4	589	4	LRRC4B	19	51021414	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10536	51021414	8107569	18813	26525											
LRRC4B	94030	broad.mit.edu	37	chr19	51021716	51021716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgaagttaagcgtgccGtcatgcaggacggagatgcg	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021716G>A	ENST00000599957.1	-	3	1451	c.1254C>T	c.(1252-1254)gaC>gaT	p.D418D	LRRC4B_ENST00000389201.3_Silent_p.D418D			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	418	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TAAGCGTGCCGTCATGCAGGA	0.652													False	0	False	19:51021716	0	A	51021716	G	A	51021716	2	1	88	1	0	0	0	0	0	0	0	1	9069	1136	40	1		1	LRRC4B	19	51021716	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302	51021716	8107267	18814	26526											
LRRC4B	94030	broad.mit.edu	37	chr19	51021728	51021728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgccgtcatgcaggacGgagatgcgcacgcggtagga	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021728G>A	ENST00000599957.1	-	3	1439	c.1242C>T	c.(1240-1242)tcC>tcT	p.S414S	LRRC4B_ENST00000389201.3_Silent_p.S414S			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	414	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CATGCAGGACGGAGATGCGCA	0.637													False	0	False	19:51021728	0	A	51021728	G	A	51021728	2	1	88	1	0	0	0	0	0	0	0	1	9069	1103	39	1		1	LRRC4B	19	51021728	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	51021728	8107255	18815	26527											
LRRC4B	94030	broad.mit.edu	37	chr19	51021887	51021887	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccacgatgacgggcgcataGcaggtgaaatgcgactggtc	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021887G>T	ENST00000599957.1	-	3	1280	c.1083C>A	c.(1081-1083)tgC>tgA	p.C361*	LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.C361*			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	361	LRRCT.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGGGCGCATAGCAGGTGAAAT	0.667													False	0	False	19:51021887	0	T	51021887	G	T	51021887	4	4	88	1	0	0	0	0	0	1	0	0	9069	963	34	3	1062	3	LRRC4B	19	51021887	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159	51021887	8107096	18816	26528											
LRRC4B	94030	broad.mit.edu	37	chr19	51022052	51022052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggttgtggttgaggtgCacgcgctcgaggcggtgcag	20	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51022052C>T	ENST00000599957.1	-	3	1115	c.918G>A	c.(916-918)gtG>gtA	p.V306V	LRRC4B_ENST00000389201.3_Silent_p.V306V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	306						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGTTGAGGTGCACGCGCTCGA	0.642													False	0	False	19:51022052	0	T	51022052	C	T	51022052	2	4	88	1	0	0	0	0	0	0	0	1	9069	697	25	2		2	LRRC4B	19	51022052	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165	51022052	8106931	18817	26529											
SYT3	84258	broad.mit.edu	37	chr19	51128446	51128446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgatgccagtgctccacGggcttgcggggattggccag	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51128446G>A	ENST00000338916.4	-	7	2313	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	SYT3_ENST00000544769.1_Silent_p.P560P|SYT3_ENST00000593901.1_Silent_p.P560P|SYT3_ENST00000600079.1_Silent_p.P560P	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	560						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		AGTGCTCCACGGGCTTGCGGG	0.677													False	0	True	19:51128446	0	A	51128446	G	A	51128446	2	1	88	1	0	0	0	0	0	0	0	1	15557	1103	39	1		1	SYT3	19	51128446	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106394	51128446	8000537	18818	26530											
SYT3	84258	broad.mit.edu	37	chr19	51133064	51133064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgaaactttttcttgcGgtcaggcagcaggtagatct	12	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51133064G>A	ENST00000338916.4	-	3	1672	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	SYT3_ENST00000544769.1_Missense_Mutation_p.R347C|SYT3_ENST00000593901.1_Missense_Mutation_p.R347C|SYT3_ENST00000600079.1_Missense_Mutation_p.R347C	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	347	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTTTTCTTGCGGTCAGGCAGC	0.622													False	0	False	19:51133064	0	A	51133064	G	A	51133064	3	1	88	1	0	0	0	0	1	0	0	0	15557	1116	39	1	757	1	SYT3	19	51133064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4618	51133064	7995919	18819	26531											
SHANK1	50944	broad.mit.edu	37	chr19	51165631	51165631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggcctgggtagaggggtCcggaaggcaggatgggcagg	22	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51165631C>T	ENST00000293441.1	-	23	6095	c.6077G>A	c.(6076-6078)gGa>gAa	p.G2026E	SHANK1_ENST00000391814.1_Missense_Mutation_p.G2034E|SHANK1_ENST00000359082.3_Missense_Mutation_p.G2017E|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1413E|SHANK1_ENST00000483981.2_5'UTR	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2026			G -> R (in a colorectal cancer sample; somatic mutation).		cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTAGAGGGGTCCGGAAGGCAG	0.716													False	0	False	19:51165631	0	T	51165631	C	T	51165631	3	4	88	1	0	0	0	0	1	0	0	0	14345	855	30	2	412	2	SHANK1	19	51165631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32567	51165631	7963352	18820	26532											
SHANK1	50944	broad.mit.edu	37	chr19	51169770	51169770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacttctggctctacagccAccggaccccccgccacgcct	9	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51169770A>G	ENST00000293441.1	-	22	5465	c.5447T>C	c.(5446-5448)gTg>gCg	p.V1816A	SHANK1_ENST00000391814.1_Missense_Mutation_p.V1824A|SHANK1_ENST00000359082.3_Missense_Mutation_p.V1807A|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.V1203A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1816					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCTACAGCCACCGGACCCCC	0.726													False	0	False	19:51169770	0	G	51169770	A	G	51169770	3	3	88	1	0	0	0	0	1	0	0	0	14345	159	6	4	1046	4	SHANK1	19	51169770	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4139	51169770	7959213	18821	26533											
SHANK1	50944	broad.mit.edu	37	chr19	51220126	51220126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccccctcgggacactcGctggcactgtggcgttcctc	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51220126G>A	ENST00000293441.1	-	1	69	c.51C>T	c.(49-51)agC>agT	p.S17S	SHANK1_ENST00000391814.1_Silent_p.S17S|SHANK1_ENST00000359082.3_Silent_p.S17S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	17					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGGACACTCGCTGGCACTGT	0.736													False	0	False	19:51220126	0	A	51220126	G	A	51220126	2	1	88	1	0	0	0	0	0	0	0	1	14345	1078	38	1		1	SHANK1	19	51220126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50356	51220126	7908857	18822	26534											
CLEC11A	6320	broad.mit.edu	37	chr19	51226907	51226907	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggaggaggagcgggAgagggaggccctgatgctga	20	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51226907A>T	ENST00000250340.4	+	1	322	c.125A>T	c.(124-126)gAg>gTg	p.E42V	CLEC11A_ENST00000599973.1_Missense_Mutation_p.E42V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	42					positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		gaggagcgggagagggaggCC	0.637													False	0	True	19:51226907	0	T	51226907	A	T	51226907	3	4	88	1	0	0	0	0	1	0	0	0	3519	304	11	5	127	5	CLEC11A	19	51226907	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6781	51226907	7902076	18823	26535											
CLEC11A	6320	broad.mit.edu	37	chr19	51228461	51228461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcgctccctacaactggCccgtgtggctgggcgtgcac	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51228461C>T	ENST00000250340.4	+	4	906	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	CLEC11A_ENST00000599973.1_Missense_Mutation_p.A253V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	237	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTACAACTGGCCCGTGTGGCT	0.726													False	0	True	19:51228461	0	T	51228461	C	T	51228461	3	4	88	1	0	0	0	0	1	0	0	0	3519	739	26	2	723	2	CLEC11A	19	51228461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1554	51228461	7900522	18824	26536											
GPR32	2854	broad.mit.edu	37	chr19	51274701	51274701	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttggtccatctgtggCgacgggtgatgctcaaggaa	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51274701C>T	ENST00000270590.4	+	1	981	c.844C>T	c.(844-846)Cga>Tga	p.R282*		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	282						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCATCTGTGGCGACGGGTGAT	0.582													False	0	False	19:51274701	0	T	51274701	C	T	51274701	4	4	88	1	0	0	0	0	0	1	0	0	6734	760	27	1	846	1	GPR32	19	51274701	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46240	51274701	7854282	18825	26537											
KLK15	55554	broad.mit.edu	37	chr19	51330304	51330304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaacatgatgtcgttgCggtggctgcgcgcttcgtag	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51330304C>T	ENST00000326856.4	-	4	437	c.308G>A	c.(307-309)cGc>cAc	p.R103H	KLK15_ENST00000416184.1_Missense_Mutation_p.R104H|KLK15_ENST00000596931.1_Missense_Mutation_p.R103H|KLK15_ENST00000598239.1_Missense_Mutation_p.R104H|KLK15_ENST00000301421.2_Missense_Mutation_p.R104H	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	104	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GATGTCGTTGCGGTGGCTGCG	0.697													False	0	False	19:51330304	0	T	51330304	C	T	51330304	3	4	88	1	0	0	0	0	1	0	0	0	8453	768	27	1	471	1	KLK15	19	51330304	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55603	51330304	7798679	18826	26538											
KLK15	55554	broad.mit.edu	37	chr19	51330990	51330990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacagttaaagcgtccaCgctcgtagagagccacttgc	10	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51330990C>T	ENST00000326856.4	-	3	251	c.122G>A	c.(121-123)cGt>cAt	p.R41H	KLK15_ENST00000416184.1_Missense_Mutation_p.R42H|KLK15_ENST00000596931.1_Missense_Mutation_p.R41H|KLK15_ENST00000598239.1_Missense_Mutation_p.R42H|KLK15_ENST00000301421.2_Missense_Mutation_p.R42H	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	42	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		AAAGCGTCCACGCTCGTAGAG	0.607													False	0	False	19:51330990	0	T	51330990	C	T	51330990	3	4	88	1	0	0	0	0	1	0	0	0	8453	536	19	1	661	1	KLK15	19	51330990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	686	51330990	7797993	18827	26539											
KLK3	354	broad.mit.edu	37	chr19	51361378	51361378	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacagcttcccacacccgctCtacgatatgagcctcctgaa	6	17	1	2	rs2739452		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51361378C>A	ENST00000360617.3	+	3	300	c.300C>A	c.(298-300)ctC>ctA	p.L100L	KLK3_ENST00000326003.2_Silent_p.L100L|KLK3_ENST00000593997.1_Silent_p.L100L|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Intron			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	100	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.L100L(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACACCCGCTCTACGATATGA	0.582													False	0	False	19:51361378	0	A	51361378	C	A	51361378	2	1	88	1	0	0	0	0	0	0	0	1	8455	900	32	3		3	KLK3	19	51361378	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30388	51361378	7767605	18828	26540											
KLK7	5650	broad.mit.edu	37	chr19	51483600	51483600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatggatgacagcctgGcctggctattgagcttcacg	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51483600G>A	ENST00000391807.1	-	4	466	c.365C>T	c.(364-366)gCc>gTc	p.A122V	KLK7_ENST00000336317.4_Missense_Mutation_p.A9V|KLK7_ENST00000595820.1_Missense_Mutation_p.A122V|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000597707.1_Missense_Mutation_p.A50V	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	122	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGACAGCCTGGCCTGGCTATT	0.592													False	0	True	19:51483600	0	A	51483600	G	A	51483600	3	1	88	1	0	0	0	0	1	0	0	0	8459	1203	42	2	408	2	KLK7	19	51483600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122222	51483600	7645383	18829	26541											
KLK7	5650	broad.mit.edu	37	chr19	51485163	51485163	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccatcaataatcttgtcAccctgggctggatggagaca	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51485163A>G	ENST00000391807.1	-	3	182	c.81T>C	c.(79-81)ggT>ggC	p.G27G	KLK7_ENST00000336317.4_Intron|KLK7_ENST00000595820.1_Silent_p.G27G|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000597707.1_5'UTR	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	27					epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TAATCTTGTCACCCTGGGCTG	0.597													False	0	True	19:51485163	0	G	51485163	A	G	51485163	2	3	88	1	0	0	0	0	0	0	0	1	8459	146	6	4		4	KLK7	19	51485163	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1563	51485163	7643820	18830	26542											
KLK13	26085	broad.mit.edu	37	chr19	51563271	51563271	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggtattcagggtgggggaTagagtggacaacttccctca	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51563271T>C	ENST00000595793.1	-	3	361	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	KLK13_ENST00000596955.1_Missense_Mutation_p.I107V|KLK13_ENST00000595547.1_Intron|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	107	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGTGGGGGATAGAGTGGACA	0.582													False	0	False	19:51563271	0	C	51563271	T	C	51563271	3	2	88	1	0	0	0	0	1	0	0	0	8451	1406	49	4	526	4	KLK13	19	51563271	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78108	51563271	7565712	18831	26543											
KLK14	43847	broad.mit.edu	37	chr19	51582124	51582124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacagaccatgccaggcGtgatggttctaggataggcc	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51582124G>A	ENST00000391802.1	-	6	817	c.599C>T	c.(598-600)aCg>aTg	p.T200M	KLK14_ENST00000156499.2_Missense_Mutation_p.T200M	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	200	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CATGCCAGGCGTGATGGTTCT	0.587													False	0	False	19:51582124	0	A	51582124	G	A	51582124	3	1	88	1	0	0	0	0	1	0	0	0	8452	1145	40	1	212	1	KLK14	19	51582124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18853	51582124	7546859	18832	26544											
SIGLEC7	27036	broad.mit.edu	37	chr19	51647836	51647836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacccgctcctcagtgctcAccctcatcccacagccccag	5	23	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51647836A>G	ENST00000317643.6	+	2	676	c.607A>G	c.(607-609)Acc>Gcc	p.T203A	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	203	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTCAGTGCTCACCCTCATCCC	0.657													False	0	True	19:51647836	0	G	51647836	A	G	51647836	3	3	88	1	0	0	0	0	1	0	0	0	14394	159	6	4	613	4	SIGLEC7	19	51647836	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65712	51647836	7481147	18833	26545											
CD33	945	broad.mit.edu	37	chr19	51728523	51728523	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcaagtgcaggagtcagtGacggtacaggagggtttgtg	17	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51728523G>A	ENST00000262262.4	+	2	108	c.87G>A	c.(85-87)gtG>gtA	p.V29V	CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Silent_p.V29V|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	29	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGGAGTCAGTGACGGTACAGG	0.587													False	0	False	19:51728523	0	A	51728523	G	A	51728523	2	1	88	1	0	0	0	0	0	0	0	1	3028	1277	45	2		2	CD33	19	51728523	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80687	51728523	7400460	18834	26546											
CD33	945	broad.mit.edu	37	chr19	51729117	51729117	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagaacccggccactccaaAaacctgacctgctctgtgtc	7	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51729117A>C	ENST00000436584.2	+	2	151	c.96A>C	c.(94-96)aaA>aaC	p.K32N	CD33_ENST00000391796.3_Missense_Mutation_p.K159N|CD33_ENST00000421133.2_Missense_Mutation_p.K32N|CD33_ENST00000262262.4_Missense_Mutation_p.K159N			P20138	CD33_HUMAN	CD33 molecule	159	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCCACTCCAAAAACCTGACCT	0.597													False	0	True	19:51729117	0	C	51729117	A	C	51729117	3	2	88	1	0	0	0	0	1	0	0	0	3028	11	1	4	487	4	CD33	19	51729117	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	594	51729117	7399866	18835	26547											
NKG7	4818	broad.mit.edu	37	chr19	51875714	51875714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagcctcaaaccagaaatCggtgctcaaagcaatcaggc	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51875714C>T	ENST00000221978.5	-	1	255	c.76G>A	c.(76-78)Gat>Aat	p.D26N	NKG7_ENST00000595217.1_Missense_Mutation_p.D26N|NKG7_ENST00000600427.1_Missense_Mutation_p.D26N	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	26						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AACCAGAAATCGGTGCTCAAA	0.612													False	0	False	19:51875714	0	T	51875714	C	T	51875714	3	4	88	1	0	0	0	0	1	0	0	0	10511	884	31	1	437	1	NKG7	19	51875714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146597	51875714	7253269	18836	26548											
LIM2	3982	broad.mit.edu	37	chr19	51883833	51883833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccagtccccaaagcggCggcccaggaagctgacggtg	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51883833C>T	ENST00000221973.3	-	4	554	c.512G>A	c.(511-513)cGc>cAc	p.R171H	LIM2_ENST00000596399.1_Missense_Mutation_p.R129H	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	129					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CCCAAAGCGGCGGCCCAGGAA	0.627													False	0	False	19:51883833	0	T	51883833	C	T	51883833	3	4	88	1	0	0	0	0	1	0	0	0	8847	768	27	1	143	1	LIM2	19	51883833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8119	51883833	7245150	18837	26549											
SIGLEC10	89790	broad.mit.edu	37	chr19	51918657	51918657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctttggccctccagtaCtgggagagacgtgccgttcc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51918657C>T	ENST00000353836.5	-	7	1329	c.1108G>A	c.(1108-1110)Gta>Ata	p.V370I	SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V312I|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V222I|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V287I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V280I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V312I|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V322I|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.V370I	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	370	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.V370L(1)|p.V312L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCCTCCAGTACTGGGAGAGAC	0.632													False	0	False	19:51918657	0	T	51918657	C	T	51918657	3	4	88	1	0	0	0	0	1	0	0	0	14387	565	20	2	1005	2	SIGLEC10	19	51918657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34824	51918657	7210326	18838	26550											
SIGLEC8	27181	broad.mit.edu	37	chr19	51957546	51957546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcccgctgctggccttgccGatttcttcctgcaggacctc	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51957546G>A	ENST00000321424.3	-	6	1238	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S298L|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S282L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	391					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGCCTTGCCGATTTCTTCCT	0.597													False	0	False	19:51957546	0	A	51957546	G	A	51957546	3	1	88	1	0	0	0	0	1	0	0	0	14395	1059	37	1	335	1	SIGLEC8	19	51957546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38889	51957546	7171437	18839	26551											
SIGLEC8	27181	broad.mit.edu	37	chr19	51960443	51960443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctctgtcctacctgtgGcatctccttggaagacagtc	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51960443G>A	ENST00000321424.3	-	3	842	c.776C>T	c.(775-777)gCc>gTc	p.A259V	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.A166V|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	259	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTACCTGTGGCATCTCCTTG	0.562													False	0	False	19:51960443	0	A	51960443	G	A	51960443	3	1	88	1	0	0	0	0	1	0	0	0	14395	1203	42	2	743	2	SIGLEC8	19	51960443	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2897	51960443	7168540	18840	26552											
SIGLEC8	27181	broad.mit.edu	37	chr19	51960871	51960871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggaggacacggaggcccCaatccaggagatcatggggg	18	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51960871C>T	ENST00000321424.3	-	2	643	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	193	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACGGAGGCCCCAATCCAGGAG	0.652													False	0	True	19:51960871	0	T	51960871	C	T	51960871	3	4	88	1	0	0	0	0	1	0	0	0	14395	594	21	2	946	2	SIGLEC8	19	51960871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428	51960871	7168112	18841	26553											
CEACAM18	729767	broad.mit.edu	37	chr19	51983672	51983672	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcaagggatatcggactgtCgtggccctggataaggtccc	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51983672C>T	ENST00000396477.4	+	2	159	c.138C>T	c.(136-138)gtC>gtT	p.V46V	CEACAM18_ENST00000451626.1_Silent_p.V107V	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	107						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATCGGACTGTCGTGGCCCTGG	0.552													False	0	False	19:51983672	0	T	51983672	C	T	51983672	2	4	88	1	0	0	0	0	0	0	0	1	3212	871	31	1		1	CEACAM18	19	51983672	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22801	51983672	7145311	18842	26554											
CEACAM18	729767	broad.mit.edu	37	chr19	51983707	51983707	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccctgaggatgttcaggAatacagctggtactggggtg	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51983707A>G	ENST00000396477.4	+	2	194	c.173A>G	c.(172-174)gAa>gGa	p.E58G	CEACAM18_ENST00000451626.1_Missense_Mutation_p.E119G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	119						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GATGTTCAGGAATACAGCTGG	0.567													False	0	False	19:51983707	0	G	51983707	A	G	51983707	3	3	88	1	0	0	0	0	1	0	0	0	3212	246	9	4	366	4	CEACAM18	19	51983707	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35	51983707	7145276	18843	26555											
SIGLEC12	89858	broad.mit.edu	37	chr19	52004877	52004877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagcacagagacacacagGccctcctgcaccgtcacgga	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52004877G>A	ENST00000291707.3	-	1	166	c.111C>T	c.(109-111)ggC>ggT	p.G37G		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	37	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGACACACAGGCCCTCCTGCA	0.577													False	0	True	19:52004877	0	A	52004877	G	A	52004877	2	1	88	1	0	0	0	0	0	0	0	1	14389	1190	42	2		2	SIGLEC12	19	52004877	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21170	52004877	7124106	18844	26556											
SIGLEC6	946	broad.mit.edu	37	chr19	52033991	52033991	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccggctccagggaacgtcAcctgacaggtgaggttggtg	15	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52033991A>C	ENST00000346477.3	-	3	718	c.650T>G	c.(649-651)gTg>gGg	p.V217G	SIGLEC6_ENST00000436458.1_Missense_Mutation_p.V181G|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.V206G|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.V217G	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	217	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGAACGTCACCTGACAGGT	0.662													False	0	False	19:52033991	0	C	52033991	A	C	52033991	3	2	88	1	0	0	0	0	1	0	0	0	14393	159	6	4	768	4	SIGLEC6	19	52033991	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29114	52033991	7094992	18845	26557											
ZNF175	7728	broad.mit.edu	37	chr19	52090174	52090174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagaaacaacctcagaAatgttgcttatttacagaaa	5	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52090174A>G	ENST00000262259.2	+	5	948	c.590A>G	c.(589-591)aAa>aGa	p.K197R	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	197					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CAACCTCAGAAATGTTGCTTA	0.418													False	0	True	19:52090174	0	G	52090174	A	G	52090174	3	3	88	1	0	0	0	0	1	0	0	0	17828	14	1	4	604	4	ZNF175	19	52090174	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56183	52090174	7038809	18846	26558											
SIGLEC5	8778	broad.mit.edu	37	chr19	52131089	52131089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgcccccacactcacagTaaactgagagattcagaaaa	7	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52131089T>C	ENST00000222107.4	-	5	1133	c.995A>G	c.(994-996)tAc>tGc	p.Y332C	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.Y332C			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	332					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		ACACTCACAGTAAACTGAGAG	0.562													False	0	True	19:52131089	0	C	52131089	T	C	52131089	3	2	88	1	0	0	0	0	1	0	0	0	14392	1638	57	4	680	4	SIGLEC5	19	52131089	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40915	52131089	6997894	18847	26559											
SIGLEC5	8778	broad.mit.edu	37	chr19	52149521	52149521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatacctgtcacctccAagttcagcttattctgttgg	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52149521A>G	ENST00000222107.4	-	2	548	c.410T>C	c.(409-411)tTg>tCg	p.L137S	SIGLEC14_ENST00000360844.6_Missense_Mutation_p.L137S|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.L137S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	137					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGTCACCTCCAAGTTCAGCTT	0.552													False	0	False	19:52149521	0	G	52149521	A	G	52149521	3	3	88	1	0	0	0	0	1	0	0	0	14392	131	5	4		4	SIGLEC5	19	52149521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18432	52149521	6979462	18848	26560											
HAS1	3036	broad.mit.edu	37	chr19	52216735	52216735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaagcctccgcacgcccAcccagtacagcgtcaacatg	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52216735A>G	ENST00000540069.2	-	5	1739	c.1679T>C	c.(1678-1680)gTg>gCg	p.V560A	HAS1_ENST00000601714.1_Missense_Mutation_p.V568A|HAS1_ENST00000222115.1_Missense_Mutation_p.V561A			Q92839	HAS1_HUMAN	hyaluronan synthase 1	561					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCGCACGCCCACCCAGTACAG	0.721													False	0	True	19:52216735	0	G	52216735	A	G	52216735	3	3	88	1	0	0	0	0	1	0	0	0	7008	159	6	4	58	4	HAS1	19	52216735	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67214	52216735	6912248	18849	26561											
HAS1	3036	broad.mit.edu	37	chr19	52217270	52217270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacagccactcacggaagtAcgacttggaccagcgtgtct	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52217270A>G	ENST00000540069.2	-	5	1204	c.1144T>C	c.(1144-1146)Tac>Cac	p.Y382H	HAS1_ENST00000601714.1_Missense_Mutation_p.Y390H|HAS1_ENST00000594621.1_Missense_Mutation_p.V212A|HAS1_ENST00000222115.1_Missense_Mutation_p.Y383H			Q92839	HAS1_HUMAN	hyaluronan synthase 1	383					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCACGGAAGTACGACTTGGAC	0.652													False	0	False	19:52217270	0	G	52217270	A	G	52217270	3	3	88	1	0	0	0	0	1	0	0	0	7008	391	14	4	593	4	HAS1	19	52217270	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	535	52217270	6911713	18850	26562											
FPR1	2357	broad.mit.edu	37	chr19	52250008	52250008	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggccttcctgaccatgaaGaatggcaaagtggaggtgaa	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52250008G>T	ENST00000595042.1	-	3	381	c.240C>A	c.(238-240)ttC>ttA	p.F80L	FPR1_ENST00000304748.4_Missense_Mutation_p.F80L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	80					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGACCATGAAGAATGGCAAAG	0.512													False	0	False	19:52250008	0	T	52250008	G	T	52250008	3	4	88	1	0	0	0	0	1	0	0	0	6080	933	33	3	816	3	FPR1	19	52250008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32738	52250008	6878975	18851	26563											
FPR3	2359	broad.mit.edu	37	chr19	52327369	52327369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatcattgctctggaccGctgtatttgtgtcctgcatc	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52327369G>A	ENST00000339223.4	+	2	547	c.368G>A	c.(367-369)cGc>cAc	p.R123H	FPR3_ENST00000595991.1_Missense_Mutation_p.R123H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	123					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCTCTGGACCGCTGTATTTGT	0.478													False	0	False	19:52327369	0	A	52327369	G	A	52327369	3	1	88	1	0	0	0	0	1	0	0	0	6082	1087	38	1	370	1	FPR3	19	52327369	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77361	52327369	6801614	18852	26564											
ZNF577	84765	broad.mit.edu	37	chr19	52375983	52375983	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttaacaatggcggggttccTgaggaaggcatttctatagg	13	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52375983T>A	ENST00000420592.1	-	6	2416	c.1083A>T	c.(1081-1083)tcA>tcT	p.S361S	ZNF577_ENST00000451628.2_Silent_p.S361S|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Silent_p.S420S|ZNF577_ENST00000485702.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCGGGGTTCCTGAGGAAGGCA	0.433													False	0	False	19:52375983	0	A	52375983	T	A	52375983	2	1	88	1	0	0	0	0	0	0	0	1	18092	1567	55	5		5	ZNF577	19	52375983	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48614	52375983	6753000	18853	26565											
ZNF577	84765	broad.mit.edu	37	chr19	52376486	52376486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctattgagccggcacttccGgctgaaggcttttccgcatt	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52376486G>A	ENST00000420592.1	-	6	1913	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	ZNF577_ENST00000451628.2_Missense_Mutation_p.R194W|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.R253W|ZNF577_ENST00000485702.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CGGCACTTCCGGCTGAAGGCT	0.498													False	0	False	19:52376486	0	A	52376486	G	A	52376486	3	1	88	1	0	0	0	0	1	0	0	0	18092	1115	39	1	704	1	ZNF577	19	52376486	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	503	52376486	6752497	18854	26566											
ZNF649	65251	broad.mit.edu	37	chr19	52394210	52394210	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctctcctgagtgaattttCtgatgtctaatgagtcctga	8	8	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52394210C>A	ENST00000354957.3	-	5	1463	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.Q365H	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		AGTGAATTTTCTGATGTCTAA	0.443													False	0	True	19:52394210	0	A	52394210	C	A	52394210	3	1	88	1	0	0	0	0	1	0	0	0	18147	912	32	3	342	3	ZNF649	19	52394210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17724	52394210	6734773	18855	26567											
ZNF649	65251	broad.mit.edu	37	chr19	52394796	52394796	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctttcctgtatgaattCtcttatgctcagtgagctga	8	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52394796C>A	ENST00000354957.3	-	5	877	c.593G>T	c.(592-594)aGa>aTa	p.R198I	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.R198I	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGTATGAATTCTCTTATGCTC	0.458													False	0	False	19:52394796	0	A	52394796	C	A	52394796	3	1	88	1	0	0	0	0	1	0	0	0	18147	913	32	3	928	3	ZNF649	19	52394796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	586	52394796	6734187	18856	26568											
ZNF613	79898	broad.mit.edu	37	chr19	52447542	52447542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacttacatgggaaaataCtgaaatcaaatttaagttta	6	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52447542C>T	ENST00000293471.6	+	6	1085	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	ZNF613_ENST00000391794.4_Silent_p.L100L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TGGGAAAATACTGAAATCAAA	0.343													False	0	False	19:52447542	0	T	52447542	C	T	52447542	2	4	88	1	0	0	0	0	0	0	0	1	18121	564	20	2		2	ZNF613	19	52447542	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52746	52447542	6681441	18857	26569											
ZNF613	79898	broad.mit.edu	37	chr19	52448197	52448197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgacaaagcattccGctggaaatcacagctcaatg	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52448197G>A	ENST00000293471.6	+	6	1740	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGCATTCCGCTGGAAATCA	0.458													False	0	False	19:52448197	0	A	52448197	G	A	52448197	3	1	88	1	0	0	0	0	1	0	0	0	18121	1087	38	1	1075	1	ZNF613	19	52448197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	655	52448197	6680786	18858	26570											
ZNF613	79898	broad.mit.edu	37	chr19	52448557	52448557	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtcaggtctcattaaccAccagagaattcacacaggag	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52448557A>G	ENST00000293471.6	+	6	2100	c.1421A>G	c.(1420-1422)cAc>cGc	p.H474R	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.H438R	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTCATTAACCACCAGAGAATT	0.418													False	0	False	19:52448557	0	G	52448557	A	G	52448557	3	3	88	1	0	0	0	0	1	0	0	0	18121	159	6	4	1435	4	ZNF613	19	52448557	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	360	52448557	6680426	18859	26571											
ZNF350	59348	broad.mit.edu	37	chr19	52468200	52468200	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtttctgtcctgtgcaaaTcctctgttatctcctgaggc	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52468200T>C	ENST00000243644.4	-	5	1733	c.1506A>G	c.(1504-1506)ggA>ggG	p.G502G	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	502					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CCTGTGCAAATCCTCTGTTAT	0.453													False	0	True	19:52468200	0	C	52468200	T	C	52468200	2	2	88	1	0	0	0	0	0	0	0	1	17946	1422	50	4		4	ZNF350	19	52468200	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19643	52468200	6660783	18860	26572											
ZNF615	284370	broad.mit.edu	37	chr19	52496964	52496964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacattcggtgcatacataGggtttctctccagtatgtgt	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52496964G>A	ENST00000602063.1	-	6	1714	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	ZNF615_ENST00000598071.1_Silent_p.P466P|ZNF615_ENST00000391795.3_Silent_p.P460P|ZNF615_ENST00000376716.5_Silent_p.P455P|ZNF615_ENST00000594083.1_Silent_p.P466P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGCATACATAGGGTTTCTCTC	0.428													False	0	True	19:52496964	0	A	52496964	G	A	52496964	2	1	88	1	0	0	0	0	0	0	0	1	18123	987	35	2		2	ZNF615	19	52496964	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28764	52496964	6632019	18861	26573											
ZNF615	284370	broad.mit.edu	37	chr19	52497170	52497170	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtttgctgatgtgtgataaGactgttcttcaaggtgaagc	12	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52497170G>T	ENST00000602063.1	-	6	1508	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	ZNF615_ENST00000598071.1_Missense_Mutation_p.L398I|ZNF615_ENST00000391795.3_Missense_Mutation_p.L392I|ZNF615_ENST00000376716.5_Missense_Mutation_p.L387I|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTGTGATAAGACTGTTCTTC	0.398													False	0	False	19:52497170	0	T	52497170	G	T	52497170	3	4	88	1	0	0	0	0	1	0	0	0	18123	942	33	3	1040	3	ZNF615	19	52497170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206	52497170	6631813	18862	26574											
ZNF614	80110	broad.mit.edu	37	chr19	52519953	52519953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgagcaattagatagcGcttcattgtaaagccctttc	8	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52519953G>A	ENST00000270649.6	-	5	1442	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATTAGATAGCGCTTCATTGTA	0.408													False	0	False	19:52519953	0	A	52519953	G	A	52519953	3	1	88	1	0	0	0	0	1	0	0	0	18122	1087	38	1	863	1	ZNF614	19	52519953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22783	52519953	6609030	18863	26575											
ZNF614	80110	broad.mit.edu	37	chr19	52520505	52520505	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggaaaatgtgtcttgctgaGatgtacaatatttctaagtg	10	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52520505G>T	ENST00000270649.6	-	5	890	c.346C>A	c.(346-348)Ctc>Atc	p.L116I	ZNF614_ENST00000356322.6_Missense_Mutation_p.L116I	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTCTTGCTGAGATGTACAATA	0.358													False	0	False	19:52520505	0	T	52520505	G	T	52520505	3	4	88	1	0	0	0	0	1	0	0	0	18122	942	33	3	1415	3	ZNF614	19	52520505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	552	52520505	6608478	18864	26576											
ZNF432	9668	broad.mit.edu	37	chr19	52550105	52550105	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaatagagaaaaagtcAcctgggcattgatcattttc	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52550105A>G	ENST00000594154.1	-	2	228		c.e2+1		ZNF432_ENST00000597273.1_Splice_Site|ZNF432_ENST00000221315.5_Splice_Site			O94892	ZN432_HUMAN	zinc finger protein 432						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGAAAAAGTCACCTGGGCATT	0.363													False	0	False	19:52550105	0	G	52550105	A	G	52550105	5	3	88	1	0	0	0	0	0	0	1	0	17989	173	6	4	1957	4	ZNF432	19	52550105	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29600	52550105	6578878	18865	26577											
ZNF841	284371	broad.mit.edu	37	chr19	52568529	52568529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttttcactagaatgaattCgttggtgtttagtgaggcaa	11	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52568529C>T	ENST00000389534.4	-	7	3065	c.2606G>A	c.(2605-2607)cGa>cAa	p.R869Q	ZNF841_ENST00000426391.2_Missense_Mutation_p.R753Q|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Missense_Mutation_p.R445Q|ZNF841_ENST00000594295.1_Missense_Mutation_p.R869Q	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	753					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGAATGAATTCGTTGGTGTTT	0.423													False	0	False	19:52568529	0	T	52568529	C	T	52568529	3	4	88	1	0	0	0	0	1	0	0	0	18271	884	31	1	172	1	ZNF841	19	52568529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18424	52568529	6560454	18866	26578											
ZNF616	90317	broad.mit.edu	37	chr19	52618157	52618157	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcctgagcgacaaataaAagatttcccacactcattac	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52618157A>C	ENST00000600228.1	-	4	2521	c.2260T>G	c.(2260-2262)Ttt>Gtt	p.F754V	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	754					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CGACAAATAAAAGATTTCCCA	0.408													False	0	True	19:52618157	0	C	52618157	A	C	52618157	3	2	88	1	0	0	0	0	1	0	0	0	18124	14	1	4	89	4	ZNF616	19	52618157	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49628	52618157	6510826	18867	26579											
ZNF616	90317	broad.mit.edu	37	chr19	52618727	52618727	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aattctccgatgcactgtaaGacgtgaacattgactgaaga	9	8	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52618727G>T	ENST00000600228.1	-	4	1951	c.1690C>A	c.(1690-1692)Ctt>Att	p.L564I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGCACTGTAAGACGTGAACAT	0.443													False	0	False	19:52618727	0	T	52618727	G	T	52618727	3	4	88	1	0	0	0	0	1	0	0	0	18124	942	33	3	659	3	ZNF616	19	52618727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	570	52618727	6510256	18868	26580											
ZNF616	90317	broad.mit.edu	37	chr19	52619913	52619913	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacaaccattattacctgtCttctccgtttcattacattc	2	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52619913C>A	ENST00000600228.1	-	4	765	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TATTACCTGTCTTCTCCGTTT	0.373													False	0	False	19:52619913	0	A	52619913	C	A	52619913	3	1	88	1	0	0	0	0	1	0	0	0	18124	912	32	3	1845	3	ZNF616	19	52619913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1186	52619913	6509070	18869	26581											
ZNF836	162962	broad.mit.edu	37	chr19	52658722	52658722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgccttctctgatggtaCgtcaggcctgttatatgact	10	9	2	2	rs139619574	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52658722C>T	ENST00000322146.8	-	5	2735	c.2214G>A	c.(2212-2214)acG>acA	p.T738T	ZNF836_ENST00000597252.1_Silent_p.T738T|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTGATGGTACGTCAGGCCTG	0.418													False	0	False	19:52658722	0	T	52658722	C	T	52658722	2	4	88	1	0	0	0	0	0	0	0	1	18269	523	19	1		1	ZNF836	19	52658722	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38809	52658722	6470261	18870	26582											
ZNF836	162962	broad.mit.edu	37	chr19	52658887	52658887	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtatgaattatcagatgTttagtgaggcttgaacgctg	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52658887T>C	ENST00000322146.8	-	5	2570	c.2049A>G	c.(2047-2049)aaA>aaG	p.K683K	ZNF836_ENST00000597252.1_Silent_p.K683K|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	683					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTATCAGATGTTTAGTGAGGC	0.388													False	0	True	19:52658887	0	C	52658887	T	C	52658887	2	2	88	1	0	0	0	0	0	0	0	1	18269	1722	60	4		4	ZNF836	19	52658887	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	165	52658887	6470096	18871	26583											
PPP2R1A	5518	broad.mit.edu	37	chr19	52729015	52729015	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcctagagaagctgacccaGgaccaggatgtggacgtcaa	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52729015G>T	ENST00000322088.6	+	14	1765	c.1707G>T	c.(1705-1707)caG>caT	p.Q569H	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q390H|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q514H|CTD-2525I3.3_ENST00000593857.1_RNA	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	569	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AGCTGACCCAGGACCAGGATG	0.567			Mis		clear cell ovarian carcinoma								False	0	True	19:52729015	0	T	52729015	G	T	52729015	3	4	88	1	0	0	0	0	1	0	0	0	12456	991	35	3	1761	3	PPP2R1A	19	52729015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70128	52729015	6399968	18872	26584											
ZNF480	147657	broad.mit.edu	37	chr19	52819145	52819145	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaaaggagggagccctgGtctggtgagagtgaagtgaa	18	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52819145G>A	ENST00000595962.1	+	4	324	c.258G>A	c.(256-258)tgG>tgA	p.W86*	ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000334564.7_Intron|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.W9*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GGGAGCCCTGGTCTGGTGAGA	0.443													False	0	True	19:52819145	0	A	52819145	G	A	52819145	4	1	88	1	0	0	0	0	0	1	0	0	18018	1270	44	2	268	2	ZNF480	19	52819145	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90130	52819145	6309838	18873	26585											
ZNF480	147657	broad.mit.edu	37	chr19	52825079	52825079	+	Missense_Mutation	SNP	A	A	C													gattcttcatttctcccacaAgaacagaaagtacaccttag					rs149769756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825079A>C	ENST00000595962.1	+	5	642	c.576A>C	c.(574-576)caA>caC	p.Q192H	ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.Q149H|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.Q115H	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTCTCCCACAAGAACAGAAAG	0.358													False	0	False	19:52825079	0	C	52825079	A	C	52825079	3	2	88	1	0	0	0	0	1	0	0	0	18018	69	3	4	590	4	ZNF480	19	52825079	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5934	52825079	6303904	18874	26586	279	2									
ZNF480	147657	broad.mit.edu	37	chr19	52825080	52825080	+	Nonsense_Mutation	SNP	G	G	T													attcttcatttctcccacaaGaacagaaagtacaccttaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825080G>T	ENST00000595962.1	+	5	643	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.E150*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.E116*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TCTCCCACAAGAACAGAAAGT	0.363													False	0	False	19:52825080	0	T	52825080	G	T	52825080	4	4	88	1	0	0	0	0	0	1	0	0	18018	943	33	3	591	3	ZNF480	19	52825080	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	52825080	6303903	18875	26587	279	2									
ZNF480	147657	broad.mit.edu	37	chr19	52825103	52825103	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagtacaccttagagaAaaaccttatgaatgtaatga	7	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825103A>G	ENST00000595962.1	+	5	666	c.600A>G	c.(598-600)gaA>gaG	p.E200E	ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Silent_p.E157E|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Silent_p.E123E	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ACCTTAGAGAAAAACCTTATG	0.338													False	0	True	19:52825103	0	G	52825103	A	G	52825103	2	3	88	1	0	0	0	0	0	0	0	1	18018	11	1	4		4	ZNF480	19	52825103	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23	52825103	6303880	18876	26588											
ZNF480	147657	broad.mit.edu	37	chr19	52825188	52825188	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtaatccatactgtagagAaaccttacaaatgtaattca	5	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825188A>C	ENST00000595962.1	+	5	751	c.685A>C	c.(685-687)Aaa>Caa	p.K229Q	ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.K186Q|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.K152Q	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TACTGTAGAGAAACCTTACAA	0.358													False	0	True	19:52825188	0	C	52825188	A	C	52825188	3	2	88	1	0	0	0	0	1	0	0	0	18018	247	9	4	699	4	ZNF480	19	52825188	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	85	52825188	6303795	18877	26589											
ZNF480	147657	broad.mit.edu	37	chr19	52825413	52825413	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaataattcttaccttgcaCgacatcaaagaattcatgct	5	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825413C>T	ENST00000595962.1	+	5	976	c.910C>T	c.(910-912)Cga>Tga	p.R304*	ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.R261*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.R227*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTACCTTGCACGACATCAAAG	0.348													False	0	False	19:52825413	0	T	52825413	C	T	52825413	4	4	88	1	0	0	0	0	0	1	0	0	18018	528	19	1	924	1	ZNF480	19	52825413	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225	52825413	6303570	18878	26590											
ZNF880	400713	broad.mit.edu	37	chr19	52887625	52887625	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagagaatacatactggAgagaaaccttacaaatgtca	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52887625A>G	ENST00000422689.2	+	4	807	c.792A>G	c.(790-792)ggA>ggG	p.G264G		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	264					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TACATACTGGAGAGAAACCTT	0.398													False	0	True	19:52887625	0	G	52887625	A	G	52887625	2	3	88	1	0	0	0	0	0	0	0	1	18279	291	11	4		4	ZNF880	19	52887625	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	62212	52887625	6241358	18879	26591											
ZNF528	84436	broad.mit.edu	37	chr19	52918959	52918959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaagcagttcaaagcttgCacaacatcaaagaattcata	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52918959C>T	ENST00000360465.3	+	7	1280	c.854C>T	c.(853-855)gCa>gTa	p.A285V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAAAGCTTGCACAACATCAA	0.368													False	0	False	19:52918959	0	T	52918959	C	T	52918959	3	4	88	1	0	0	0	0	1	0	0	0	18052	710	25	2	868	2	ZNF528	19	52918959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31334	52918959	6210024	18880	26592											
ZNF528	84436	broad.mit.edu	37	chr19	52919388	52919388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcagaccttatacgacatcGaaaaactcatactgatgaga	6	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52919388G>A	ENST00000360465.3	+	7	1709	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATACGACATCGAAAAACTCAT	0.398													False	0	True	19:52919388	0	A	52919388	G	A	52919388	3	1	88	1	0	0	0	0	1	0	0	0	18052	1058	37	1	1297	1	ZNF528	19	52919388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	429	52919388	6209595	18881	26593											
ZNF534	147658	broad.mit.edu	37	chr19	52941324	52941324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcaagccttactaaccGtcaagtaatccacattgcag	6	12	3	0	rs151189562	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52941324G>A	ENST00000332323.6	+	4	711	c.650G>A	c.(649-651)cGt>cAt	p.R217H	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R204H|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CTTACTAACCGTCAAGTAATC	0.388													False	0	False	19:52941324	0	A	52941324	G	A	52941324	3	1	88	1	0	0	0	0	1	0	0	0	18056	1145	40	1	664	1	ZNF534	19	52941324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21936	52941324	6187659	18882	26594											
ZNF534	147658	broad.mit.edu	37	chr19	52942497	52942497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggaattcacaccttgcgcGacataggaaaattcatactg	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52942497G>A	ENST00000332323.6	+	4	1884	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R595Q|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACCTTGCGCGACATAGGAAA	0.418													False	0	False	19:52942497	0	A	52942497	G	A	52942497	3	1	88	1	0	0	0	0	1	0	0	0	18056	1058	37	1	1837	1	ZNF534	19	52942497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1173	52942497	6186486	18883	26595											
ZNF578	147660	broad.mit.edu	37	chr19	53005079	53005079	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttatttttcttccacatacaGgattgatttctaaagactca	4	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53005079G>T	ENST00000421239.2	+	4	225		c.e4-1			NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCCACATACAGGATTGATTTC	0.438													False	0	True	19:53005079	0	T	53005079	G	T	53005079	5	4	88	1	0	0	0	0	0	0	1	0	18093	1014	35	3		3	ZNF578	19	53005079	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62582	53005079	6123904	18884	26596											
ZNF578	147660	broad.mit.edu	37	chr19	53014089	53014089	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctggaaacaagcctaTtaaagatcagcttggattaa	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53014089T>G	ENST00000421239.2	+	6	699	c.455T>G	c.(454-456)aTt>aGt	p.I152S		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AACAAGCCTATTAAAGATCAG	0.408													False	0	False	19:53014089	0	G	53014089	T	G	53014089	3	3	88	1	0	0	0	0	1	0	0	0	18093	1493	52	4	465	4	ZNF578	19	53014089	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9010	53014089	6114894	18885	26597											
ZNF808	388558	broad.mit.edu	37	chr19	53056883	53056883	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtaatgagagtggcaaAgcctttaattgtagctcact	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53056883A>C	ENST00000359798.4	+	5	894	c.714A>C	c.(712-714)aaA>aaC	p.K238N		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGAGTGGCAAAGCCTTTAATT	0.373													False	0	True	19:53056883	0	C	53056883	A	C	53056883	3	2	88	1	0	0	0	0	1	0	0	0	18255	69	3	4	724	4	ZNF808	19	53056883	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	42794	53056883	6072100	18886	26598											
ZNF808	388558	broad.mit.edu	37	chr19	53057635	53057635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaagtgtaatgagtgtcGcaagaccttcagccgcaggt	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53057635G>A	ENST00000359798.4	+	5	1646	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AATGAGTGTCGCAAGACCTTC	0.433													False	0	False	19:53057635	0	A	53057635	G	A	53057635	3	1	88	1	0	0	0	0	1	0	0	0	18255	1087	38	1	1476	1	ZNF808	19	53057635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	752	53057635	6071348	18887	26599											
ZNF808	388558	broad.mit.edu	37	chr19	53058088	53058088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggaattcacagctggcacGacatacaagaattcacactg	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53058088G>A	ENST00000359798.4	+	5	2099	c.1919G>A	c.(1918-1920)cGa>cAa	p.R640Q		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGCTGGCACGACATACAAGA	0.408													False	0	False	19:53058088	0	A	53058088	G	A	53058088	3	1	88	1	0	0	0	0	1	0	0	0	18255	1058	37	1	1929	1	ZNF808	19	53058088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453	53058088	6070895	18888	26600											
ZNF701	55762	broad.mit.edu	37	chr19	53085712	53085712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaggcatgctggaaacAaacctattaaaaatgagctt	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53085712A>G	ENST00000540331.1	+	5	823	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	ZNF701_ENST00000301093.2_Missense_Mutation_p.K200E|ZNF701_ENST00000391785.3_Missense_Mutation_p.K134E|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGCTGGAAACAAACCTATTAA	0.408													False	0	True	19:53085712	0	G	53085712	A	G	53085712	3	3	88	1	0	0	0	0	1	0	0	0	18188	131	5	4	612	4	ZNF701	19	53085712	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27624	53085712	6043271	18889	26601											
ZNF701	55762	broad.mit.edu	37	chr19	53086312	53086312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgaagaatgtgacaaaGttttcagtcgcaaatcacac	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53086312G>A	ENST00000540331.1	+	5	1423	c.1198G>A	c.(1198-1200)Gtt>Att	p.V400I	ZNF701_ENST00000301093.2_Missense_Mutation_p.V400I|ZNF701_ENST00000391785.3_Missense_Mutation_p.V334I|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATGTGACAAAGTTTTCAGTCG	0.378													False	0	True	19:53086312	0	A	53086312	G	A	53086312	3	1	88	1	0	0	0	0	1	0	0	0	18188	1029	36	2	1212	2	ZNF701	19	53086312	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	600	53086312	6042671	18890	26602											
ZNF701	55762	broad.mit.edu	37	chr19	53086349	53086349	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaccttgaaagacataggaGaattcacactggagagaaac	9	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53086349G>T	ENST00000540331.1	+	5	1460	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	ZNF701_ENST00000301093.2_Missense_Mutation_p.R412I|ZNF701_ENST00000391785.3_Missense_Mutation_p.R346I|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGACATAGGAGAATTCACACT	0.408													False	0	False	19:53086349	0	T	53086349	G	T	53086349	3	4	88	1	0	0	0	0	1	0	0	0	18188	942	33	3	1249	3	ZNF701	19	53086349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	53086349	6042634	18891	26603											
ZNF83	55769	broad.mit.edu	37	chr19	53117594	53117594	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgaataatgaatccacaAaattacattcatatgtatga	6	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53117594A>C	ENST00000597597.1	-	2	2477	c.224T>G	c.(223-225)tTt>tGt	p.F75C	ZNF83_ENST00000391789.4_Missense_Mutation_p.F75C|ZNF83_ENST00000545872.1_Missense_Mutation_p.F75C|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.F75C|ZNF83_ENST00000301096.3_Missense_Mutation_p.F75C|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000541777.2_Missense_Mutation_p.F75C|ZNF83_ENST00000536937.1_Missense_Mutation_p.F75C			P51522	ZNF83_HUMAN	zinc finger protein 83	75						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGAATCCACAAAATTACATTC	0.373													False	0	True	19:53117594	0	C	53117594	A	C	53117594	3	2	88	1	0	0	0	0	1	0	0	0	18265	14	1	4	1330	4	ZNF83	19	53117594	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31245	53117594	6011389	18892	26604											
ZNF611	81856	broad.mit.edu	37	chr19	53208551	53208551	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctcaccactatgaactCtatgatggcatacaaggtat	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53208551C>A	ENST00000543227.1	-	6	2031	c.1757G>T	c.(1756-1758)aGa>aTa	p.R586I	ZNF611_ENST00000319783.1_Missense_Mutation_p.R586I|ZNF611_ENST00000602162.1_Missense_Mutation_p.R517I|ZNF611_ENST00000595798.1_Missense_Mutation_p.R517I|ZNF611_ENST00000540744.1_Missense_Mutation_p.R586I|ZNF611_ENST00000453741.2_Missense_Mutation_p.R517I	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		ACTATGAACTCTATGATGGCA	0.438													False	0	False	19:53208551	0	A	53208551	C	A	53208551	3	1	88	1	0	0	0	0	1	0	0	0	18120	913	32	3	364	3	ZNF611	19	53208551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90957	53208551	5920432	18893	26605											
ZNF600	162966	broad.mit.edu	37	chr19	53270299	53270299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactgcagtgtgaagtctaCgatggcatgtaagggatgat	13	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53270299C>T	ENST00000338230.3	-	3	977	c.710G>A	c.(709-711)cGt>cAt	p.R237H		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTGAAGTCTACGATGGCATGT	0.408													False	0	False	19:53270299	0	T	53270299	C	T	53270299	3	4	88	1	0	0	0	0	1	0	0	0	18113	536	19	1	1462	1	ZNF600	19	53270299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61748	53270299	5858684	18894	26606											
ZNF28	7576	broad.mit.edu	37	chr19	53304225	53304225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgtctgcagtatgaagCgccttgtgaaggaagaggga	16	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53304225C>T	ENST00000438150.2	-	2	1607	c.714G>A	c.(712-714)gcG>gcA	p.A238A	ZNF28_ENST00000360272.4_Silent_p.A238A|ZNF28_ENST00000414252.2_Silent_p.A238A|ZNF28_ENST00000457749.2_Silent_p.A291A			P17035	ZNF28_HUMAN	zinc finger protein 28	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CAGTATGAAGCGCCTTGTGAA	0.398													False	0	False	19:53304225	0	T	53304225	C	T	53304225	2	4	88	1	0	0	0	0	0	0	0	1	17896	755	27	1		1	ZNF28	19	53304225	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33926	53304225	5824758	18895	26607											
ZNF28	7576	broad.mit.edu	37	chr19	53304313	53304313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcatcaatgtgagatctaCgatggcatgcaaggtatcgc	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53304313C>T	ENST00000438150.2	-	2	1519	c.626G>A	c.(625-627)cGt>cAt	p.R209H	ZNF28_ENST00000360272.4_Missense_Mutation_p.R209H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R209H|ZNF28_ENST00000457749.2_Missense_Mutation_p.R262H			P17035	ZNF28_HUMAN	zinc finger protein 28	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGAGATCTACGATGGCATGC	0.383													False	0	False	19:53304313	0	T	53304313	C	T	53304313	3	4	88	1	0	0	0	0	1	0	0	0	17896	536	19	1	1375	1	ZNF28	19	53304313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	53304313	5824670	18896	26608											
ZNF320	162967	broad.mit.edu	37	chr19	53385152	53385152	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caatgtgataacttgcttgtCtctgcaatgtccctgtgtgg	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53385152C>T	ENST00000595635.1	-	8	728	c.227G>A	c.(226-228)aGa>aAa	p.R76K	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R76K	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ACTTGCTTGTCTCTGCAATGT	0.383													False	0	False	19:53385152	0	T	53385152	C	T	53385152	3	4	88	1	0	0	0	0	1	0	0	0	17922	913	32	2	1306	2	ZNF320	19	53385152	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80839	53385152	5743831	18897	26609											
ZNF415	55786	broad.mit.edu	37	chr19	53612015	53612015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaactctccgatgactcGcaaggtgtgaattgtaactg	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53612015G>A	ENST00000455735.2	-	7	1747	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	ZNF415_ENST00000243643.4_Missense_Mutation_p.A428V|ZNF415_ENST00000440291.1_Missense_Mutation_p.A415V|ZNF415_ENST00000448501.1_Missense_Mutation_p.A476V|ZNF415_ENST00000421033.1_Missense_Mutation_p.A440V|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.A198V|ZNF415_ENST00000500065.4_Missense_Mutation_p.A428V|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CCGATGACTCGCAAGGTGTGA	0.423													False	0	False	19:53612015	0	A	53612015	G	A	53612015	3	1	88	1	0	0	0	0	1	0	0	0	17975	1087	38	1	388	1	ZNF415	19	53612015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226863	53612015	5516968	18898	26610											
ZNF415	55786	broad.mit.edu	37	chr19	53612071	53612071	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcattgcatttgtaaggtttCtctccagtatgaattctcca	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53612071C>T	ENST00000455735.2	-	7	1691	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E	ZNF415_ENST00000243643.4_Silent_p.E409E|ZNF415_ENST00000440291.1_Silent_p.E396E|ZNF415_ENST00000448501.1_Silent_p.E457E|ZNF415_ENST00000421033.1_Silent_p.E421E|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.E179E|ZNF415_ENST00000500065.4_Silent_p.E409E|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGTAAGGTTTCTCTCCAGTAT	0.408													False	0	True	19:53612071	0	T	53612071	C	T	53612071	2	4	88	1	0	0	0	0	0	0	0	1	17975	912	32	2		2	ZNF415	19	53612071	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56	53612071	5516912	18899	26611											
ZNF347	84671	broad.mit.edu	37	chr19	53645099	53645099	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtgagagttgtgaatttcGactaaagaccttaccacact	8	8	0	3	rs146144984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53645099G>A	ENST00000452676.2	-	5	1411	c.985C>T	c.(985-987)Cga>Tga	p.R329*	ZNF347_ENST00000601469.2_Nonsense_Mutation_p.R329*|ZNF347_ENST00000334197.7_Nonsense_Mutation_p.R328*|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTGAATTTCGACTAAAGACC	0.398													False	0	False	19:53645099	0	A	53645099	G	A	53645099	4	1	88	1	0	0	0	0	0	1	0	0	17944	1066	37	1	1541	1	ZNF347	19	53645099	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33028	53645099	5483884	18900	26612											
ZNF347	84671	broad.mit.edu	37	chr19	53645126	53645126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccttaccacactcattacAtttgtaacgtttttcgccag	5	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53645126A>G	ENST00000452676.2	-	5	1384	c.958T>C	c.(958-960)Tgt>Cgt	p.C320R	ZNF347_ENST00000601469.2_Missense_Mutation_p.C320R|ZNF347_ENST00000334197.7_Missense_Mutation_p.C319R|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CACTCATTACATTTGTAACGT	0.383													False	0	True	19:53645126	0	G	53645126	A	G	53645126	3	3	88	1	0	0	0	0	1	0	0	0	17944	217	8	4	1568	4	ZNF347	19	53645126	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27	53645126	5483857	18901	26613											
ZNF347	84671	broad.mit.edu	37	chr19	53652554	53652554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtacaaagtcctctgagCggggtccaggcatgtccact	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53652554C>T	ENST00000452676.2	-	3	508	c.82G>A	c.(82-84)Gct>Act	p.A28T	ZNF347_ENST00000601469.2_Missense_Mutation_p.A28T|ZNF347_ENST00000334197.7_Missense_Mutation_p.A28T|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTCCTCTGAGCGGGGTCCAGG	0.507													False	0	True	19:53652554	0	T	53652554	C	T	53652554	3	4	88	1	0	0	0	0	1	0	0	0	17944	768	27	1	2452	1	ZNF347	19	53652554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7428	53652554	5476429	18902	26614											
ZNF665	79788	broad.mit.edu	37	chr19	53667726	53667726	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatccactatgaattcttcGatgttttgcaaggtttgaat	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53667726G>A	ENST00000600412.1	-	2	1937	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.R673*			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCTTCGATGTTTTGCA	0.488													False	0	False	19:53667726	0	A	53667726	G	A	53667726	4	1	88	1	0	0	0	0	0	1	0	0	18156	1066	37	1	23	1	ZNF665	19	53667726	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15172	53667726	5461257	18903	26615											
ZNF665	79788	broad.mit.edu	37	chr19	53668976	53668976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaggtttctctccagtaTgaattctctgatgacctgca	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53668976T>C	ENST00000600412.1	-	2	687	c.572A>G	c.(571-573)cAt>cGt	p.H191R	ZNF665_ENST00000396424.3_Missense_Mutation_p.H256R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CTCTCCAGTATGAATTCTCTG	0.398													False	0	False	19:53668976	0	C	53668976	T	C	53668976	3	2	88	1	0	0	0	0	1	0	0	0	18156	1464	51	4	1273	4	ZNF665	19	53668976	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1250	53668976	5460007	18904	26616											
ZNF665	79788	broad.mit.edu	37	chr19	53669537	53669537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacttcaccgtgtagaacGcttctcccatattgttcttc	5	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53669537G>A	ENST00000600412.1	-	2	126	c.11C>T	c.(10-12)gCg>gTg	p.A4V	ZNF665_ENST00000396424.3_Missense_Mutation_p.A69V			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CGTGTAGAACGCTTCTCCCAT	0.408													False	0	False	19:53669537	0	A	53669537	G	A	53669537	3	1	88	1	0	0	0	0	1	0	0	0	18156	1087	38	1	1834	1	ZNF665	19	53669537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	561	53669537	5459446	18905	26617											
ZNF665	79788	broad.mit.edu	37	chr19	53678811	53678811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attctatggccacatccttgAatgtcaactgtccctaaaat	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53678811A>G	ENST00000396424.3	-	3	118	c.29T>C	c.(28-30)tTc>tCc	p.F10S	ZNF665_ENST00000600412.1_Intron	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CACATCCTTGAATGTCAACTG	0.413													False	0	False	19:53678811	0	G	53678811	A	G	53678811	3	3	88	1	0	0	0	0	1	0	0	0	18156	246	9	4	2015	4	ZNF665	19	53678811	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9274	53678811	5450172	18906	26618											
ZNF677	342926	broad.mit.edu	37	chr19	53741328	53741328	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaactattgatagacttctCaactggattacattcataca	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53741328C>T	ENST00000333952.4	-	5	817	c.652G>A	c.(652-654)Gag>Aag	p.E218K	ZNF677_ENST00000598513.1_Missense_Mutation_p.E218K			Q86XU0	ZN677_HUMAN	zinc finger protein 677	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATAGACTTCTCAACTGGATTA	0.338													False	0	False	19:53741328	0	T	53741328	C	T	53741328	3	4	88	1	0	0	0	0	1	0	0	0	18167	835	29	2	1106	2	ZNF677	19	53741328	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62517	53741328	5387655	18907	26619											
ZNF677	342926	broad.mit.edu	37	chr19	53741428	53741428	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attttattttcaaaacacttCacgtatttgtttccggcata	4	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53741428C>T	ENST00000333952.4	-	5	717	c.552G>A	c.(550-552)gtG>gtA	p.V184V	ZNF677_ENST00000598513.1_Silent_p.V184V			Q86XU0	ZN677_HUMAN	zinc finger protein 677	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CAAAACACTTCACGTATTTGT	0.348													False	0	False	19:53741428	0	T	53741428	C	T	53741428	2	4	88	1	0	0	0	0	0	0	0	1	18167	813	29	2		2	ZNF677	19	53741428	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100	53741428	5387555	18908	26620											
ZNF677	342926	broad.mit.edu	37	chr19	53747046	53747046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaaagcaggttcctgtaGttctccaacatcacgtccct	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53747046G>A	ENST00000333952.4	-	4	285	c.120C>T	c.(118-120)aaC>aaT	p.N40N	ZNF677_ENST00000601828.1_Silent_p.N40N|ZNF677_ENST00000601413.1_Silent_p.N40N|ZNF677_ENST00000598806.1_Silent_p.N40N|ZNF677_ENST00000594681.1_Silent_p.N40N|ZNF677_ENST00000598513.1_Silent_p.N40N|ZNF677_ENST00000599012.1_Silent_p.N40N			Q86XU0	ZN677_HUMAN	zinc finger protein 677	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GGTTCCTGTAGTTCTCCAACA	0.488													False	0	False	19:53747046	0	A	53747046	G	A	53747046	2	1	88	1	0	0	0	0	0	0	0	1	18167	1020	36	2		2	ZNF677	19	53747046	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5618	53747046	5381937	18909	26621											
VN1R2	317701	broad.mit.edu	37	chr19	53762196	53762196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgtcttccaggtgatcAccatcaaccctaggaactcc	8	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53762196A>G	ENST00000341702.3	+	1	652	c.568A>G	c.(568-570)Acc>Gcc	p.T190A		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	190					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.T190S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CCAGGTGATCACCATCAACCC	0.488													False	0	False	19:53762196	0	G	53762196	A	G	53762196	3	3	88	1	0	0	0	0	1	0	0	0	17263	159	6	4	570	4	VN1R2	19	53762196	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15150	53762196	5366787	18910	26622											
VN1R2	317701	broad.mit.edu	37	chr19	53762652	53762652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtttatttagctctcttcGataattccagttggtggcta	8	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53762652G>A	ENST00000341702.3	+	1	1108	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	342					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGCTCTCTTCGATAATTCCAG	0.463													False	0	False	19:53762652	0	A	53762652	G	A	53762652	3	1	88	1	0	0	0	0	1	0	0	0	17263	1058	37	1	1026	1	VN1R2	19	53762652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	456	53762652	5366331	18911	26623											
BIRC8	112401	broad.mit.edu	37	chr19	53793138	53793138	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caatgaagtctgattcaattCattttctgtagtgtctttct	6	7	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53793138C>A	ENST00000426466.1	-	1	1737	c.490G>T	c.(490-492)Gaa>Taa	p.E164*		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	164					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TGATTCAATTCATTTTCTGTA	0.418													False	0	True	19:53793138	0	A	53793138	C	A	53793138	4	1	88	1	0	0	0	0	0	1	0	0	1445	835	29	3	224	3	BIRC8	19	53793138	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30486	53793138	5335845	18912	26624											
ZNF845	91664	broad.mit.edu	37	chr19	53854087	53854087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagatatctcttccaaatgCatgatgaaggagttctcatc	7	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53854087C>T	ENST00000458035.1	+	4	276	c.159C>T	c.(157-159)tgC>tgT	p.C53C	ZNF845_ENST00000595091.1_Silent_p.C53C	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTCCAAATGCATGATGAAGG	0.353													False	0	False	19:53854087	0	T	53854087	C	T	53854087	2	4	88	1	0	0	0	0	0	0	0	1	18273	718	25	2		2	ZNF845	19	53854087	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60949	53854087	5274896	18913	26625											
ZNF845	91664	broad.mit.edu	37	chr19	53854630	53854630	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagtcttaaggaaacatcaGataatccatttaggagcgaa	8	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53854630G>T	ENST00000458035.1	+	4	819	c.702G>T	c.(700-702)caG>caT	p.Q234H	ZNF845_ENST00000595091.1_Missense_Mutation_p.Q234H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGAAACATCAGATAATCCATT	0.373													False	0	False	19:53854630	0	T	53854630	G	T	53854630	3	4	88	1	0	0	0	0	1	0	0	0	18273	933	33	3	712	3	ZNF845	19	53854630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	543	53854630	5274353	18914	26626											
ZNF845	91664	broad.mit.edu	37	chr19	53855359	53855359	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgtggcaagaccttcagTcagacatcatcccttgtata	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855359T>C	ENST00000458035.1	+	4	1548	c.1431T>C	c.(1429-1431)agT>agC	p.S477S	ZNF845_ENST00000595091.1_Silent_p.S477S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGACCTTCAGTCAGACATCAT	0.383													False	0	True	19:53855359	0	C	53855359	T	C	53855359	2	2	88	1	0	0	0	0	0	0	0	1	18273	1664	58	4		4	ZNF845	19	53855359	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	729	53855359	5273624	18915	26627											
ZNF845	91664	broad.mit.edu	37	chr19	53855474	53855474	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accttgaaagacataggataAttcatactggagagaaactt	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855474A>C	ENST00000458035.1	+	4	1663	c.1546A>C	c.(1546-1548)Att>Ctt	p.I516L	ZNF845_ENST00000595091.1_Missense_Mutation_p.I516L	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACATAGGATAATTCATACTGG	0.378													False	0	False	19:53855474	0	C	53855474	A	C	53855474	3	2	88	1	0	0	0	0	1	0	0	0	18273	101	4	4	1556	4	ZNF845	19	53855474	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115	53855474	5273509	18916	26628											
ZNF845	91664	broad.mit.edu	37	chr19	53855957	53855957	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacctttagtcggaagtcaTaccttacatgccatcgtaga	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855957T>C	ENST00000458035.1	+	4	2146	c.2029T>C	c.(2029-2031)Tac>Cac	p.Y677H	ZNF845_ENST00000595091.1_Missense_Mutation_p.Y677H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	677				Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCGGAAGTCATACCTTACATG	0.398													False	0	False	19:53855957	0	C	53855957	T	C	53855957	3	2	88	1	0	0	0	0	1	0	0	0	18273	1406	49	4	2039	4	ZNF845	19	53855957	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	483	53855957	5273026	18917	26629											
ZNF765	91661	broad.mit.edu	37	chr19	53912333	53912333	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttcagtttcaaatcaaacCttgaaagacataggagaatt	6	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53912333C>A	ENST00000396408.3	+	4	1642	c.1525C>A	c.(1525-1527)Ctt>Att	p.L509I	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CAAATCAAACCTTGAAAGACA	0.408													False	0	False	19:53912333	0	A	53912333	C	A	53912333	3	1	88	1	0	0	0	0	1	0	0	0	18221	681	24	3	1535	3	ZNF765	19	53912333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56376	53912333	5216650	18918	26630											
ZNF761	388561	broad.mit.edu	37	chr19	53945280	53945280	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggcctccgtgaacggtagGatccagctggttgaagagga	16	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53945280G>A	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TGAACGGTAGGATCCAGCTGG	0.577													False	0	False	19:53945280	0	A	53945280	G	A	53945280	1	1	88	0	1	0	0	0	0	0	0	0	18218	1189	41	2		2	ZNF761	19	53945280	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32947	53945280	5183703	18919	26631											
ZNF761	388561	broad.mit.edu	37	chr19	53959326	53959326	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatactggagagaaagcttAcaagtgtaatgagtgcggca	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53959326A>G	ENST00000454407.1	+	0	2018							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAGAAAGCTTACAAGTGTAAT	0.438													False	0	False	19:53959326	0	G	53959326	A	G	53959326	1	3	88	0	1	0	0	0	0	0	0	0	18218	391	14	4		4	ZNF761	19	53959326	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14046	53959326	5169657	18920	26632											
ZNF813	126017	broad.mit.edu	37	chr19	53994876	53994876	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ataaggctattcatattggaGagaaacgttacaagtgtaat	9	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53994876G>A	ENST00000396403.4	+	4	1518	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCATATTGGAGAGAAACGTTA	0.413													False	0	True	19:53994876	0	A	53994876	G	A	53994876	3	1	88	1	0	0	0	0	1	0	0	0	18257	943	33	2	1400	2	ZNF813	19	53994876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35550	53994876	5134107	18921	26633											
ZNF331	55422	broad.mit.edu	37	chr19	54074947	54074947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagggacctgtactgggaCgtgatgctggagaactacag	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54074947C>T	ENST00000253144.9	+	6	1432	c.99C>T	c.(97-99)gaC>gaT	p.D33D	ZNF331_ENST00000511154.1_Silent_p.D33D|ZNF331_ENST00000511593.2_Silent_p.D33D|ZNF331_ENST00000449416.1_Silent_p.D33D|ZNF331_ENST00000512387.1_Silent_p.D33D|ZNF331_ENST00000513265.1_Silent_p.D33D|ZNF331_ENST00000513999.1_Silent_p.D33D|ZNF331_ENST00000411977.2_Silent_p.D33D	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGTACTGGGACGTGATGCTGG	0.522			T	?	follicular thyroid adenoma								False	0	False	19:54074947	0	T	54074947	C	T	54074947	2	4	88	1	0	0	0	0	0	0	0	1	17932	535	19	1		1	ZNF331	19	54074947	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80071	54074947	5054036	18922	26634											
ZNF331	55422	broad.mit.edu	37	chr19	54080543	54080543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacactggggagaaagactaCgaatgcaaagactgtgggaa	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54080543C>T	ENST00000253144.9	+	7	2062	c.729C>T	c.(727-729)taC>taT	p.Y243Y	ZNF331_ENST00000511154.1_Silent_p.Y243Y|ZNF331_ENST00000511593.2_Silent_p.Y243Y|ZNF331_ENST00000449416.1_Silent_p.Y243Y|ZNF331_ENST00000512387.1_Silent_p.Y243Y|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000513999.1_Silent_p.Y243Y|ZNF331_ENST00000411977.2_Silent_p.Y243Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGAAAGACTACGAATGCAAAG	0.463			T	?	follicular thyroid adenoma								False	0	False	19:54080543	0	T	54080543	C	T	54080543	2	4	88	1	0	0	0	0	0	0	0	1	17932	547	19	1		1	ZNF331	19	54080543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5596	54080543	5048440	18923	26635											
DPRX	503834	broad.mit.edu	37	chr19	54137909	54137909	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcagaaagaaatggcctcGaaaatagacatacacccaac	6	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54137909G>A	ENST00000376650.1	+	2	204	c.153G>A	c.(151-153)tcG>tcA	p.S51S		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AAATGGCCTCGAAAATAGACA	0.433													False	0	True	19:54137909	0	A	54137909	G	A	54137909	2	1	88	1	0	0	0	0	0	0	0	1	4768	1045	37	1		1	DPRX	19	54137909	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57366	54137909	4991074	18924	26636											
NLRP12	91662	broad.mit.edu	37	chr19	54308655	54308655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttattggctatgagagCtgcagagaggtcctcgcagg	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54308655C>T	ENST00000324134.6	-	5	2461	c.2293G>A	c.(2293-2295)Gct>Act	p.A765T	NLRP12_ENST00000391775.3_Missense_Mutation_p.A765T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A765T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A765T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A766T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A766T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A765T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A766T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	765					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCTATGAGAGCTGCAGAGAGG	0.547													False	0	False	19:54308655	0	T	54308655	C	T	54308655	3	4	88	1	0	0	0	0	1	0	0	0	10542	797	28	2	916	2	NLRP12	19	54308655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170746	54308655	4820328	18925	26637											
NLRP12	91662	broad.mit.edu	37	chr19	54313231	54313231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggagtccaaacaggaagCggctggtgagtgccaggaag	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54313231C>T	ENST00000324134.6	-	3	1850	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	NLRP12_ENST00000391775.3_Missense_Mutation_p.R561H|NLRP12_ENST00000535162.1_Missense_Mutation_p.R561H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R561H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R561H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R561H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R561H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R561H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	561					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAACAGGAAGCGGCTGGTGAG	0.612													False	0	False	19:54313231	0	T	54313231	C	T	54313231	3	4	88	1	0	0	0	0	1	0	0	0	10542	768	27	1	1631	1	NLRP12	19	54313231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4576	54313231	4815752	18926	26638											
NLRP12	91662	broad.mit.edu	37	chr19	54313950	54313950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaagctgttaagaagcagCtccgtgggccgtttctcctc	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54313950C>T	ENST00000324134.6	-	3	1131	c.963G>A	c.(961-963)gaG>gaA	p.E321E	NLRP12_ENST00000391775.3_Silent_p.E321E|NLRP12_ENST00000535162.1_Silent_p.E321E|NLRP12_ENST00000351894.4_Silent_p.E321E|NLRP12_ENST00000391773.1_Silent_p.E321E|NLRP12_ENST00000391772.1_Silent_p.E321E|NLRP12_ENST00000354278.3_Silent_p.E321E|NLRP12_ENST00000345770.5_Silent_p.E321E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	321	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TAAGAAGCAGCTCCGTGGGCC	0.567													False	0	False	19:54313950	0	T	54313950	C	T	54313950	2	4	88	1	0	0	0	0	0	0	0	1	10542	796	28	2		2	NLRP12	19	54313950	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	719	54313950	4815033	18927	26639											
MYADM	91663	broad.mit.edu	37	chr19	54377221	54377221	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaccttcttctcctgcatCgcgtgtgtggcttacgccac	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377221C>T	ENST00000391769.2	+	3	718	c.438C>T	c.(436-438)atC>atT	p.I146I	MYADM_ENST00000391768.2_Silent_p.I146I|MYADM_ENST00000391771.1_Silent_p.I146I|MYADM_ENST00000336967.3_Silent_p.I146I|MYADM_ENST00000391770.4_Silent_p.I146I	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	146	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TCTCCTGCATCGCGTGTGTGG	0.667													False	0	False	19:54377221	0	T	54377221	C	T	54377221	2	4	88	1	0	0	0	0	0	0	0	1	10073	874	31	1		1	MYADM	19	54377221	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63271	54377221	4751762	18928	26640											
MYADM	91663	broad.mit.edu	37	chr19	54377236	54377236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcgcgtgtgtggcttaCgccaccgaagtggcctggac	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377236C>T	ENST00000391769.2	+	3	733	c.453C>T	c.(451-453)taC>taT	p.Y151Y	MYADM_ENST00000391768.2_Silent_p.Y151Y|MYADM_ENST00000391771.1_Silent_p.Y151Y|MYADM_ENST00000336967.3_Silent_p.Y151Y|MYADM_ENST00000391770.4_Silent_p.Y151Y	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	151	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTGTGGCTTACGCCACCGAAG	0.652													False	0	False	19:54377236	0	T	54377236	C	T	54377236	2	4	88	1	0	0	0	0	0	0	0	1	10073	547	19	1		1	MYADM	19	54377236	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	54377236	4751747	18929	26641											
MYADM	91663	broad.mit.edu	37	chr19	54377422	54377422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcggtgtacgccatctgCttcatcctagcggccatcgc	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377422C>T	ENST00000391769.2	+	3	919	c.639C>T	c.(637-639)tgC>tgT	p.C213C	MYADM_ENST00000391768.2_Silent_p.C213C|MYADM_ENST00000391771.1_Silent_p.C213C|MYADM_ENST00000336967.3_Silent_p.C213C|MYADM_ENST00000391770.4_Silent_p.C213C	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	213	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ACGCCATCTGCTTCATCCTAG	0.627													False	0	False	19:54377422	0	T	54377422	C	T	54377422	2	4	88	1	0	0	0	0	0	0	0	1	10073	805	28	2		2	MYADM	19	54377422	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186	54377422	4751561	18930	26642											
PRKCG	5582	broad.mit.edu	37	chr19	54401709	54401709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataggtgatgctggccgagCgcaggggctctgatgagctc	16	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54401709C>T	ENST00000263431.3	+	11	1390	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	PRKCG_ENST00000540413.1_Missense_Mutation_p.R370C|PRKCG_ENST00000536044.1_3'UTR|PRKCG_ENST00000542049.1_Missense_Mutation_p.R257C	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	370	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GCTGGCCGAGCGCAGGGGCTC	0.577													False	0	False	19:54401709	0	T	54401709	C	T	54401709	3	4	88	1	0	0	0	0	1	0	0	0	12588	768	27	1	1150	1	PRKCG	19	54401709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24287	54401709	4727274	18931	26643											
PRKCG	5582	broad.mit.edu	37	chr19	54403724	54403724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttccttcacaatcagggCatcatctacaggtgagcagc	8	12	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54403724C>T	ENST00000263431.3	+	13	1707	c.1425C>T	c.(1423-1425)ggC>ggT	p.G475G	PRKCG_ENST00000540413.1_Silent_p.G475G|PRKCG_ENST00000542049.1_Silent_p.G362G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	475	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACAATCAGGGCATCATCTACA	0.552													False	0	True	19:54403724	0	T	54403724	C	T	54403724	2	4	88	1	0	0	0	0	0	0	0	1	12588	697	25	2		2	PRKCG	19	54403724	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2015	54403724	4725259	18932	26644											
VSTM1	284415	broad.mit.edu	37	chr19	54544247	54544247	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccgcatattcatgagatcCtgggggctcctgggtggtgt	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54544247C>A	ENST00000338372.2	-	9	854	c.679G>T	c.(679-681)Gga>Tga	p.G227*	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Nonsense_Mutation_p.G196*|VSTM1_ENST00000366170.2_Nonsense_Mutation_p.G139*	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	227						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCATGAGATCCTGGGGGCTCC	0.557													False	0	False	19:54544247	0	A	54544247	C	A	54544247	4	1	88	1	0	0	0	0	0	1	0	0	17312	690	24	3	35	3	VSTM1	19	54544247	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140523	54544247	4584736	18933	26645											
VSTM1	284415	broad.mit.edu	37	chr19	54544318	54544318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttagctcagcataggtcactCcttgggggtctgccgtcttt	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54544318C>T	ENST00000338372.2	-	9	783	c.608G>A	c.(607-609)gGa>gAa	p.G203E	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.G172E|VSTM1_ENST00000366170.2_Missense_Mutation_p.G115E	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	203						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		ATAGGTCACTCCTTGGGGGTC	0.493													False	0	False	19:54544318	0	T	54544318	C	T	54544318	3	4	88	1	0	0	0	0	1	0	0	0	17312	855	30	2	106	2	VSTM1	19	54544318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71	54544318	4584665	18934	26646											
OSCAR	126014	broad.mit.edu	37	chr19	54600355	54600355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatctccaagcgggttggGgtgcccggcatctcaaggtc	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54600355G>A	ENST00000284648.6	-	4	364	c.167C>T	c.(166-168)cCc>cTc	p.P56L	OSCAR_ENST00000391761.1_Missense_Mutation_p.P45L|OSCAR_ENST00000356532.3_Missense_Mutation_p.P60L|OSCAR_ENST00000358375.4_Missense_Mutation_p.P56L|OSCAR_ENST00000351806.4_Missense_Mutation_p.P45L|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000359649.4_Missense_Mutation_p.P60L			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	56	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					AGCGGGTTGGGGTGCCCGGCA	0.587													False	0	True	19:54600355	0	A	54600355	G	A	54600355	3	1	88	1	0	0	0	0	1	0	0	0	11353	1232	43	2	830	2	OSCAR	19	54600355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56037	54600355	4528628	18935	26647											
CNOT3	4849	broad.mit.edu	37	chr19	54647751	54647751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctctacagcaaatggaaCggttcaaagttgtggaacga	10	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54647751C>T	ENST00000406403.1	+	5	1871	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R90W			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	90					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCAAATGGAACGGTTCAAAGT	0.557													False	0	False	19:54647751	0	T	54647751	C	T	54647751	3	4	88	1	0	0	0	0	1	0	0	0	3643	527	19	1	286	1	CNOT3	19	54647751	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47396	54647751	4481232	18936	26648											
CNOT3	4849	broad.mit.edu	37	chr19	54649380	54649380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcacatcgagaagcaccGctaccacgtgcgcatgctag	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54649380G>A	ENST00000406403.1	+	7	2133	c.530G>A	c.(529-531)cGc>cAc	p.R177H	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R177H			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	177					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGAAGCACCGCTACCACGTG	0.607													False	0	False	19:54649380	0	A	54649380	G	A	54649380	3	1	88	1	0	0	0	0	1	0	0	0	3643	1087	38	1	556	1	CNOT3	19	54649380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1629	54649380	4479603	18937	26649											
CNOT3	4849	broad.mit.edu	37	chr19	54652176	54652176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccagcgtccagcctagCggaggcggaggcggcggcag	17	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54652176C>T	ENST00000406403.1	+	10	2791	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	CNOT3_ENST00000358389.3_Silent_p.S215S|CNOT3_ENST00000221232.5_Silent_p.S396S			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	396					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCAGCCTAgcggaggcggag	0.706													False	0	True	19:54652176	0	T	54652176	C	T	54652176	2	4	88	1	0	0	0	0	0	0	0	1	3643	767	27	1		1	CNOT3	19	54652176	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2796	54652176	4476807	18938	26650											
CNOT3	4849	broad.mit.edu	37	chr19	54659048	54659048	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccttctcccccggccaggGcacctacatctactttgact	7	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659048G>T	ENST00000406403.1	+	17	3768	c.2165G>T	c.(2164-2166)gGc>gTc	p.G722V	LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Splice_Site_p.G722V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	722					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCGGCCAGGGCACCTACATC	0.592													False	0	True	19:54659048	0	T	54659048	G	T	54659048	5	4	88	1	0	0	0	0	0	0	1	0	3643	1217	42	3	2231	3	CNOT3	19	54659048	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6872	54659048	4469935	18939	26651											
CNOT3	4849	broad.mit.edu	37	chr19	54659086	54659086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacgagaagtggggccagCggaagaaggaaggcttcacc	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659086C>T	ENST00000406403.1	+	17	3806	c.2203C>T	c.(2203-2205)Cgg>Tgg	p.R735W	LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R735W			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	735					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTGGGGCCAGCGGAAGAAGGA	0.637													False	0	False	19:54659086	0	T	54659086	C	T	54659086	3	4	88	1	0	0	0	0	1	0	0	0	3643	759	27	1	2269	1	CNOT3	19	54659086	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	54659086	4469897	18940	26652											
LENG1	79165	broad.mit.edu	37	chr19	54660522	54660522	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttgggtcgctgcttctcaGacccctccttttcctttctg	7	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54660522G>T	ENST00000222224.3	-	3	740	c.554C>A	c.(553-555)tCt>tAt	p.S185Y		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	185										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGCTTCTCAGACCCCTCCTT	0.617													False	0	False	19:54660522	0	T	54660522	G	T	54660522	3	4	88	1	0	0	0	0	1	0	0	0	8774	942	33	3	248	3	LENG1	19	54660522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1436	54660522	4468461	18941	26653											
TMC4	147798	broad.mit.edu	37	chr19	54669172	54669172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttaattcgtacaagatgAtgcgctggcgcagccgcacg	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54669172A>G	ENST00000376591.4	-	6	1075	c.944T>C	c.(943-945)aTc>aCc	p.I315T	TMC4_ENST00000301187.4_Missense_Mutation_p.I309T|TMC4_ENST00000476013.2_Intron	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	315						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTACAAGATGATGCGCTGGCG	0.627													False	0	False	19:54669172	0	G	54669172	A	G	54669172	3	3	88	1	0	0	0	0	1	0	0	0	16069	333	12	4	1234	4	TMC4	19	54669172	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8650	54669172	4459811	18942	26654											
LILRA6	79168	broad.mit.edu	37	chr19	54742952	54742952	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agattctccactgtgtaatcCttggcgtgtgaggctgggga	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54742952C>A	ENST00000396365.2	-	8	1362	c.1323G>T	c.(1321-1323)aaG>aaT	p.K441N	LILRA6_ENST00000245621.5_Missense_Mutation_p.K424N|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_Intron	NM_024318.2	NP_077294			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGTAATCCTTGGCGTGTG	0.592													False	0	False	19:54742952	0	A	54742952	C	A	54742952	3	1	88	1	0	0	0	0	1	0	0	0	8841	680	24	3	126	3	LILRA6	19	54742952	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73780	54742952	4386031	18943	26655											
LILRA6	79168	broad.mit.edu	37	chr19	54745706	54745706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcatattcccccctgagGccaccacagggctgggcagg	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54745706G>A	ENST00000440558.2	-	4	452	c.404C>T	c.(403-405)gCc>gTc	p.A135V	LILRA6_ENST00000245621.5_Missense_Mutation_p.A135V|LILRA6_ENST00000396365.2_Missense_Mutation_p.A135V|LILRA6_ENST00000419410.2_Missense_Mutation_p.A135V|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Missense_Mutation_p.A135V|LILRA6_ENST00000391735.3_Missense_Mutation_p.A135V					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCCCCTGAGGCCACCACAGG	0.562													False	0	False	19:54745706	0	A	54745706	G	A	54745706	3	1	88	1	0	0	0	0	1	0	0	0	8841	1203	42	2	1061	2	LILRA6	19	54745706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2754	54745706	4383277	18944	26656											
LILRB5	0	broad.mit.edu	37	chr19	54759962	54759962	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accacacctgagggtttttcCtgtaatagtaatagcatctg	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54759962C>A	ENST00000450632.1	-	4	649	c.572G>T	c.(571-573)aGg>aTg	p.R191M	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Missense_Mutation_p.R200M|LILRB5_ENST00000316219.5_Missense_Mutation_p.R200M			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	200	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGTTTTTCCTGTAATAGTA	0.532													False	0	False	19:54759962	0	A	54759962	C	A	54759962	3	1	88	1	0	0	0	0	1	0	0	0	8846	681	24	3	1216	3	LILRB5	19	54759962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14256	54759962	4369021	18945	26657											
LILRB2	0	broad.mit.edu	37	chr19	54778643	54778643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtcaagctgtgcagcTgggcgtaggtcacatcctgg	16	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54778643T>C	ENST00000391748.1	-	14	1815	c.1688A>G	c.(1687-1689)cAg>cGg	p.Q563R	LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391749.4_Missense_Mutation_p.Q564R|LILRB2_ENST00000314446.5_Missense_Mutation_p.Q563R|LILRB2_ENST00000434421.1_Missense_Mutation_p.Q448R	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	564					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTGTGCAGCTGGGCGTAGGT	0.652													False	0	True	19:54778643	0	C	54778643	T	C	54778643	3	2	88	1	0	0	0	0	1	0	0	0	8843	1580	55	4	109	4	LILRB2	19	54778643	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18681	54778643	4350340	18946	26658											
LILRB2	0	broad.mit.edu	37	chr19	54782896	54782896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcagagacacactggagGgtcaggctttccccaggggc	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54782896G>A	ENST00000391748.1	-	6	853	c.726C>T	c.(724-726)acC>acT	p.T242T	LILRB2_ENST00000391746.1_Silent_p.T242T|LILRB2_ENST00000391749.4_Silent_p.T242T|LILRB2_ENST00000314446.5_Silent_p.T242T|LILRB2_ENST00000434421.1_Silent_p.T126T	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	242	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACACTGGAGGGTCAGGCTTT	0.602													False	0	True	19:54782896	0	A	54782896	G	A	54782896	2	1	88	1	0	0	0	0	0	0	0	1	8843	1219	43	2		2	LILRB2	19	54782896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4253	54782896	4346087	18947	26659											
LILRA5	353514	broad.mit.edu	37	chr19	54822915	54822915	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcagccgtgagccacactGgagggtcacgttctctcctg	11	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54822915G>T	ENST00000301219.3	-	5	600	c.481C>A	c.(481-483)Cag>Aag	p.Q161K	LILRA5_ENST00000346508.3_Missense_Mutation_p.Q149K|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Missense_Mutation_p.Q161K|LILRA5_ENST00000446712.3_Missense_Mutation_p.Q149K	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	161	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGCCACACTGGAGGGTCACG	0.562													False	0	False	19:54822915	0	T	54822915	G	T	54822915	3	4	88	1	0	0	0	0	1	0	0	0	8840	1357	47	3	516	3	LILRA5	19	54822915	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40019	54822915	4306068	18948	26660											
LILRA4	23547	broad.mit.edu	37	chr19	54849305	54849305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtacccctgttgctgaagGtcagggggcccatggggaac	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54849305G>A	ENST00000291759.4	-	4	613	c.557C>T	c.(556-558)aCc>aTc	p.T186I		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	186	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTGCTGAAGGTCAGGGGGCC	0.557													False	0	False	19:54849305	0	A	54849305	G	A	54849305	3	1	88	1	0	0	0	0	1	0	0	0	8839	1261	44	2	962	2	LILRA4	19	54849305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26390	54849305	4279678	18949	26661											
TTYH1	57348	broad.mit.edu	37	chr19	54932493	54932493	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatggcaacagtgagaccagTgatggggtgtcccagctcag	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54932493T>C	ENST00000301194.4	+	3	470	c.348T>C	c.(346-348)agT>agC	p.S116S	TTYH1_ENST00000376530.3_Silent_p.S116S|TTYH1_ENST00000391739.3_Silent_p.S165S|TTYH1_ENST00000376531.3_Silent_p.S116S			Q9H313	TTYH1_HUMAN	tweety family member 1	116					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTGAGACCAGTGATGGGGTGT	0.637													False	0	False	19:54932493	0	C	54932493	T	C	54932493	2	2	88	1	0	0	0	0	0	0	0	1	16823	1693	59	4		4	TTYH1	19	54932493	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	83188	54932493	4196490	18950	26662											
LENG8	114823	broad.mit.edu	37	chr19	54965677	54965677	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctgccgtcggctcaGccccctcagccctcaaatcc	8	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54965677G>T	ENST00000326764.5	+	6	974	c.495G>T	c.(493-495)caG>caT	p.Q165H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	128							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGTCGGCTCAGCCCCCTCAGC	0.682													False	0	True	19:54965677	0	T	54965677	G	T	54965677	3	4	88	1	0	0	0	0	1	0	0	0	8775	962	34	3	513	3	LENG8	19	54965677	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33184	54965677	4163306	18951	26663											
LENG8	114823	broad.mit.edu	37	chr19	54966209	54966209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagagctttggctccaaCgcagagggccagcacagtgg	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54966209C>T	ENST00000326764.5	+	7	1238	c.759C>T	c.(757-759)aaC>aaT	p.N253N	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	216							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TTGGCTCCAACGCAGAGGGCC	0.607													False	0	False	19:54966209	0	T	54966209	C	T	54966209	2	4	88	1	0	0	0	0	0	0	0	1	8775	535	19	1		1	LENG8	19	54966209	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	532	54966209	4162774	18952	26664											
LENG8	114823	broad.mit.edu	37	chr19	54966594	54966594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcccgatgactggccccaGgacatgaaagagtatgtgga	13	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54966594G>T	ENST00000326764.5	+	8	1352	c.873G>T	c.(871-873)caG>caT	p.Q291H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	254							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACTGGCCCCAGGACATGAAAG	0.632													False	0	False	19:54966594	0	T	54966594	G	T	54966594	3	4	88	1	0	0	0	0	1	0	0	0	8775	991	35	3	899	3	LENG8	19	54966594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	385	54966594	4162389	18953	26665											
LENG8	114823	broad.mit.edu	37	chr19	54969152	54969152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttcacggtggaggtgtacGagacccatgcccggatcgcc	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54969152G>A	ENST00000326764.5	+	13	2352	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	588							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGAGGTGTACGAGACCCATGC	0.667													False	0	False	19:54969152	0	A	54969152	G	A	54969152	3	1	88	1	0	0	0	0	1	0	0	0	8775	1059	37	1	1919	1	LENG8	19	54969152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2558	54969152	4159831	18954	26666											
LAIR2	3904	broad.mit.edu	37	chr19	55019358	55019358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctctattataagccccctgGatggtctgagcacagtgact	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55019358G>A	ENST00000301202.2	+	3	445	c.323G>A	c.(322-324)gGa>gAa	p.G108E	LAIR2_ENST00000351841.2_Missense_Mutation_p.G108E	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	108	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		AAGCCCCCTGGATGGTCTGAG	0.547													False	0	False	19:55019358	0	A	55019358	G	A	55019358	3	1	88	1	0	0	0	0	1	0	0	0	8654	1174	41	2	333	2	LAIR2	19	55019358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50206	55019358	4109625	18955	26667											
LILRA2	0	broad.mit.edu	37	chr19	55086036	55086036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtacagtgaccccctggaGctggtggtgacaggtgagag	17	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086036G>A	ENST00000251377.3	+	4	472	c.339G>A	c.(337-339)gaG>gaA	p.E113E	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.E101E|LILRA2_ENST00000391738.3_Silent_p.E113E|LILRA2_ENST00000251376.3_Silent_p.E113E|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACCCCCTGGAGCTGGTGGTGA	0.607													False	0	False	19:55086036	0	A	55086036	G	A	55086036	2	1	88	1	0	0	0	0	0	0	0	1	8837	962	34	2		2	LILRA2	19	55086036	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66678	55086036	4042947	18956	26668											
LILRA2	0	broad.mit.edu	37	chr19	55086372	55086372	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcccatgcccgtgggtggtCctgggccatcttctccgtgg	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086372C>A	ENST00000251377.3	+	5	660	c.527C>A	c.(526-528)tCc>tAc	p.S176Y	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S164Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.S176Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.S176Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CGTGGGTGGTCCTGGGCCATC	0.567													False	0	False	19:55086372	0	A	55086372	C	A	55086372	3	1	88	1	0	0	0	0	1	0	0	0	8837	855	30	3	541	3	LILRA2	19	55086372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	336	55086372	4042611	18957	26669											
LILRA2	0	broad.mit.edu	37	chr19	55086784	55086784	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtggcccccggggagagCctgaccctccagtgtgtctc	14	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086784C>A	ENST00000251377.3	+	6	850	c.717C>A	c.(715-717)agC>agA	p.S239R	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S227R|LILRA2_ENST00000391738.3_Missense_Mutation_p.S239R|LILRA2_ENST00000251376.3_Missense_Mutation_p.S239R|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCGGGGAGAGCCTGACCCTCC	0.577													False	0	False	19:55086784	0	A	55086784	C	A	55086784	3	1	88	1	0	0	0	0	1	0	0	0	8837	738	26	3	735	3	LILRA2	19	55086784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	412	55086784	4042199	18958	26670											
KIR2DL3	3804	broad.mit.edu	37	chr19	55263116	55263116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtaaccccagacaccTgcatgttctgattgggacct	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55263116T>C	ENST00000342376.3	+	6	762	c.731T>C	c.(730-732)cTg>cCg	p.L244P	KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCCAGACACCTGCATGTTCTG	0.438													False	0	False	19:55263116	0	C	55263116	T	C	55263116	3	2	88	1	0	0	0	0	1	0	0	0	8367	1580	55	4	753	4	KIR2DL3	19	55263116	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176332	55263116	3865867	18959	26671											
KIR2DL1	3802	broad.mit.edu	37	chr19	55282321	55282321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcttcttgctgcaggggGcctggccacatgagggtgag	17	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55282321G>A	ENST00000336077.6	+	2	95	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A19T|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	19					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.A19S(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GCTGCAGGGGGCCTGGCCACA	0.562													False	0	True	19:55282321	0	A	55282321	G	A	55282321	3	1	88	1	0	0	0	0	1	0	0	0	8366	1203	42	2	61	2	KIR2DL1	19	55282321	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19205	55282321	3846662	18960	26672											
FCAR	2204	broad.mit.edu	37	chr19	55401222	55401222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgaacaccaagtgtctGcaagtaaacacctggaggtg	11	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55401222G>A	ENST00000355524.3	+	5	867	c.857G>A	c.(856-858)tGc>tAc	p.C286Y	FCAR_ENST00000391726.3_Missense_Mutation_p.C178Y|FCAR_ENST00000391724.3_Missense_Mutation_p.C252Y|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Missense_Mutation_p.C274Y|FCAR_ENST00000353758.4_Missense_Mutation_p.C177Y|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000345937.4_Missense_Mutation_p.C190Y|FCAR_ENST00000391725.3_Missense_Mutation_p.C264Y	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	286					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCAAGTGTCTGCAAGTAAACA	0.522													False	0	False	19:55401222	0	A	55401222	G	A	55401222	3	1	88	1	0	0	0	0	1	0	0	0	5813	1319	46	2	946	2	FCAR	19	55401222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118901	55401222	3727761	18961	26673											
NCR1	9437	broad.mit.edu	37	chr19	55423572	55423572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccttttaaccacagagaCgggactccagaaaggtaagt	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55423572C>T	ENST00000594765.1	+	6	741	c.716C>T	c.(715-717)aCg>aTg	p.T239M	NCR1_ENST00000598576.1_Missense_Mutation_p.T227M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.T240M|NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000447255.1_Missense_Mutation_p.T239M			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	240					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACCACAGAGACGGGACTCCAG	0.512													False	0	True	19:55423572	0	T	55423572	C	T	55423572	3	4	88	1	0	0	0	0	1	0	0	0	10305	536	19	1	741	1	NCR1	19	55423572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22350	55423572	3705411	18962	26674											
NLRP7	199713	broad.mit.edu	37	chr19	55451160	55451160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagctcaaaggcacgcatggCttggtcctcgtctccaaagt	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451160C>A	ENST00000588756.1	-	6	1513	c.1027G>T	c.(1027-1029)Gcc>Tcc	p.A343S	NLRP7_ENST00000448121.2_Missense_Mutation_p.A343S|NLRP7_ENST00000340844.2_Missense_Mutation_p.A343S|NLRP7_ENST00000328092.5_Missense_Mutation_p.A343S|NLRP7_ENST00000590030.1_Missense_Mutation_p.A343S|NLRP7_ENST00000446217.1_Missense_Mutation_p.A371S|NLRP7_ENST00000592784.1_Missense_Mutation_p.A343S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	343	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCACGCATGGCTTGGTCCTCG	0.617													False	0	False	19:55451160	0	A	55451160	C	A	55451160	3	1	88	1	0	0	0	0	1	0	0	0	10550	797	28	3	2118	3	NLRP7	19	55451160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27588	55451160	3677823	18963	26675											
NLRP7	199713	broad.mit.edu	37	chr19	55451411	55451411	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgccccaggtgggactTtcagctcatcaaggccatcg	11	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451411T>C	ENST00000588756.1	-	6	1262	c.776A>G	c.(775-777)aAa>aGa	p.K259R	NLRP7_ENST00000448121.2_Missense_Mutation_p.K259R|NLRP7_ENST00000340844.2_Missense_Mutation_p.K259R|NLRP7_ENST00000328092.5_Missense_Mutation_p.K259R|NLRP7_ENST00000590030.1_Missense_Mutation_p.K259R|NLRP7_ENST00000446217.1_Missense_Mutation_p.K287R|NLRP7_ENST00000592784.1_Missense_Mutation_p.K259R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	259	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGTGGGACTTTCAGCTCATC	0.552													False	0	True	19:55451411	0	C	55451411	T	C	55451411	3	2	88	1	0	0	0	0	1	0	0	0	10550	1841	64	4	2369	4	NLRP7	19	55451411	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	251	55451411	3677572	18964	26676											
NLRP2	55655	broad.mit.edu	37	chr19	55494232	55494232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctaatgaggagcaacgCggccctgttccagctgggct	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55494232C>T	ENST00000543010.1	+	6	1309	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	NLRP2_ENST00000339757.7_Missense_Mutation_p.A367V|NLRP2_ENST00000391721.4_Missense_Mutation_p.A365V|NLRP2_ENST00000448584.2_Missense_Mutation_p.A389V|NLRP2_ENST00000537859.1_Missense_Mutation_p.A367V|NLRP2_ENST00000427260.2_Missense_Mutation_p.A366V|NLRP2_ENST00000263437.6_Missense_Mutation_p.A386V|NLRP2_ENST00000538819.1_Missense_Mutation_p.A365V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	389	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGAGCAACGCGGCCCTGTTC	0.632													False	0	False	19:55494232	0	T	55494232	C	T	55494232	3	4	88	1	0	0	0	0	1	0	0	0	10545	768	27	1	1184	1	NLRP2	19	55494232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42821	55494232	3634751	18965	26677											
NLRP2	55655	broad.mit.edu	37	chr19	55501543	55501543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgagacaccccaagtgCtttctgcagaggttgtcgta	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55501543C>T	ENST00000543010.1	+	9	2663	c.2520C>T	c.(2518-2520)tgC>tgT	p.C840C	NLRP2_ENST00000339757.7_Silent_p.C818C|NLRP2_ENST00000391721.4_Silent_p.C816C|NLRP2_ENST00000448584.2_Silent_p.C840C|NLRP2_ENST00000537859.1_Silent_p.C818C|NLRP2_ENST00000427260.2_Silent_p.C817C|NLRP2_ENST00000263437.6_Silent_p.C837C|NLRP2_ENST00000538819.1_Silent_p.C816C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	840					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCCCAAGTGCTTTCTGCAGA	0.512													False	0	True	19:55501543	0	T	55501543	C	T	55501543	2	4	88	1	0	0	0	0	0	0	0	1	10545	805	28	2		2	NLRP2	19	55501543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7311	55501543	3627440	18966	26678											
GP6	51206	broad.mit.edu	37	chr19	55525665	55525665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttttgttttgttggtAgagatgaggtttcaccatgt	11	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55525665A>G	ENST00000310373.3	-	8	1675	c.1648T>C	c.(1648-1650)Tac>Cac	p.Y550H	CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_3'UTR	NM_001083899.1	NP_001077368	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	0					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ttttgttggtagagatgaggt	0.453													False	0	False	19:55525665	0	G	55525665	A	G	55525665	3	3	88	1	0	0	0	0	1	0	0	0	6630	420	15	4	218	4	GP6	19	55525665	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24122	55525665	3603318	18967	26679											
GP6	51206	broad.mit.edu	37	chr19	55543732	55543732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggcaccagggagctggGcagagcctggagggagggct	21	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55543732G>A	ENST00000310373.3	-	3	127	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|GP6_ENST00000417454.1_Missense_Mutation_p.P34S|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_Missense_Mutation_p.P34S	NM_001083899.1	NP_001077368	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	34	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		AGGGAGCTGGGCAGAGCCTGG	0.706													False	0	True	19:55543732	0	A	55543732	G	A	55543732	3	1	88	1	0	0	0	0	1	0	0	0	6630	1203	42	2	1786	2	GP6	19	55543732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18067	55543732	3585251	18968	26680											
EPS8L1	54869	broad.mit.edu	37	chr19	55589480	55589480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgccccaaagccaagCgccaagtctatctatggtga	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55589480C>T	ENST00000201647.6	+	3	98	c.42C>T	c.(40-42)agC>agT	p.S14S	EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	14						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAAAGCCAAGCGCCAAGTCTA	0.577													False	0	False	19:55589480	0	T	55589480	C	T	55589480	2	4	88	1	0	0	0	0	0	0	0	1	5227	767	27	1		1	EPS8L1	19	55589480	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45748	55589480	3539503	18969	26681											
EPS8L1	54869	broad.mit.edu	37	chr19	55591075	55591075	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcacctggtgacgttctgCctgggtgaggacgatggcgt	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55591075C>A	ENST00000201647.6	+	5	191	c.135C>A	c.(133-135)tgC>tgA	p.C45*	EPS8L1_ENST00000586329.1_Nonsense_Mutation_p.C27*|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_De_novo_Start_InFrame	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	45						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGACGTTCTGCCTGGGTGAGG	0.587													False	0	False	19:55591075	0	A	55591075	C	A	55591075	4	1	88	1	0	0	0	0	0	1	0	0	5227	747	26	3	149	3	EPS8L1	19	55591075	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1595	55591075	3537908	18970	26682											
PPP1R12C	54776	broad.mit.edu	37	chr19	55607246	55607246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccactcaccacgggactctTagggctggggtgcggcgggg	17	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55607246T>C	ENST00000263433.3	-	9	1231	c.1216A>G	c.(1216-1218)Aag>Gag	p.K406E	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K332E|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K406E	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	406						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ACGGGACTCTTAGGGCTGGGG	0.632													False	0	False	19:55607246	0	C	55607246	T	C	55607246	3	2	88	1	0	0	0	0	1	0	0	0	12430	1763	61	4	1188	4	PPP1R12C	19	55607246	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16171	55607246	3521737	18971	26683											
PPP1R12C	54776	broad.mit.edu	37	chr19	55623837	55623837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcacaccagagcccacctCggcgggcgatctccgccttc	10	19	1	1	rs143271686	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55623837C>T	ENST00000263433.3	-	3	584	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R116Q|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R190Q	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	190						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GAGCCCACCTCGGCGGGCGAT	0.697													False	0	True	19:55623837	0	T	55623837	C	T	55623837	3	4	88	1	0	0	0	0	1	0	0	0	12430	884	31	1	1859	1	PPP1R12C	19	55623837	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16591	55623837	3505146	18972	26684											
TNNI3	7137	broad.mit.edu	37	chr19	55663256	55663256	+	Missense_Mutation	SNP	C	C	A													ccactcagtgcatcgatgttCttgcgccagtctcccacctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55663256C>A	ENST00000344887.5	-	8	721	c.579G>T	c.(577-579)aaG>aaT	p.K193N	TNNI3_ENST00000588882.1_Missense_Mutation_p.K168N	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	193					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CATCGATGTTCTTGCGCCAGT	0.557													False	0	False	19:55663256	0	A	55663256	C	A	55663256	3	1	88	1	0	0	0	0	1	0	0	0	16410	912	32	3	57	3	TNNI3	19	55663256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39419	55663256	3465727	18973	26685	280	2									
TNNI3	7137	broad.mit.edu	37	chr19	55663261	55663261	+	Missense_Mutation	SNP	G	G	A													cagtgcatcgatgttcttgcGccagtctcccacctcccggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55663261G>A	ENST00000344887.5	-	8	716	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	TNNI3_ENST00000588882.1_Missense_Mutation_p.R167C	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	192			R -> H (in RCM1).		cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ATGTTCTTGCGCCAGTCTCCC	0.572													False	0	False	19:55663261	0	A	55663261	G	A	55663261	3	1	88	1	0	0	0	0	1	0	0	0	16410	1087	38	1	62	1	TNNI3	19	55663261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	55663261	3465722	18974	26686	280	2									
TNNI3	7137	broad.mit.edu	37	chr19	55665401	55665401	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttagcccacactcaccttCtcggtgtcctccttcttcac	4	19	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55665401C>A	ENST00000344887.5	-	7	688	c.546G>T	c.(544-546)gaG>gaT	p.E182D	TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	182					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCACCTTCTCGGTGTCCT	0.622													False	0	False	19:55665401	0	A	55665401	C	A	55665401	3	1	88	1	0	0	0	0	1	0	0	0	16410	912	32	3	94	3	TNNI3	19	55665401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2140	55665401	3463582	18975	26687											
TNNI3	7137	broad.mit.edu	37	chr19	55668952	55668952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcatcactcacccatcCgccatgctgagactcaggcc	10	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55668952C>T	ENST00000344887.5	-	1	148	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TNNI3_ENST00000590463.1_5'UTR|CTD-2587H24.4_ENST00000587871.1_3'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	2			A -> V (in CMD2A).		cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTCACCCATCCGCCATGCTGA	0.687													False	0	False	19:55668952	0	T	55668952	C	T	55668952	2	4	88	1	0	0	0	0	0	0	0	1	16410	639	23	1		1	TNNI3	19	55668952	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3551	55668952	3460031	18976	26688											
SYT5	6861	broad.mit.edu	37	chr19	55687085	55687085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagctcaccttgaaggCgaaggtctccccaaagtgag	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55687085C>T	ENST00000354308.3	-	5	901	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	SYT5_ENST00000590851.1_Missense_Mutation_p.A175T|SYT5_ENST00000537500.1_Missense_Mutation_p.A178T|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	178	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACCTTGAAGGCGAAGGTCTCC	0.627													False	0	False	19:55687085	0	T	55687085	C	T	55687085	3	4	88	1	0	0	0	0	1	0	0	0	15559	768	27	1	648	1	SYT5	19	55687085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18133	55687085	3441898	18977	26689											
SYT5	6861	broad.mit.edu	37	chr19	55687147	55687147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggtctcgtaccgcctcCgtttgtccggcagcaggtag	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55687147C>T	ENST00000354308.3	-	5	839	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	SYT5_ENST00000590851.1_Missense_Mutation_p.R154Q|SYT5_ENST00000537500.1_Missense_Mutation_p.R157Q|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	157	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTACCGCCTCCGTTTGTCCGG	0.612													False	0	False	19:55687147	0	T	55687147	C	T	55687147	3	4	88	1	0	0	0	0	1	0	0	0	15559	652	23	1	710	1	SYT5	19	55687147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62	55687147	3441836	18978	26690											
SYT5	6861	broad.mit.edu	37	chr19	55689710	55689710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggcctgagaccagcaCgatggtggccagggcccagg	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55689710C>T	ENST00000354308.3	-	3	475	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Missense_Mutation_p.V36M	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	36					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GAGACCAGCACGATGGTGGCC	0.617													False	0	False	19:55689710	0	T	55689710	C	T	55689710	3	4	88	1	0	0	0	0	1	0	0	0	15559	536	19	1	1082	1	SYT5	19	55689710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2563	55689710	3439273	18979	26691											
PTPRH	5794	broad.mit.edu	37	chr19	55696921	55696921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctgatccagccactgcCgaagcatcctccagaaagcc	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55696921C>T	ENST00000376350.3	-	18	3033	c.3011G>A	c.(3010-3012)cGg>cAg	p.R1004Q	PTPRH_ENST00000263434.5_Missense_Mutation_p.R826Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1004	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAGCCACTGCCGAAGCATCCT	0.627													False	0	False	19:55696921	0	T	55696921	C	T	55696921	3	4	88	1	0	0	0	0	1	0	0	0	12882	652	23	1	348	1	PTPRH	19	55696921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7211	55696921	3432062	18980	26692											
PTPRH	5794	broad.mit.edu	37	chr19	55708507	55708507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggacgcacagaggctctgCgtggaactggctacgtcatt	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55708507C>T	ENST00000376350.3	-	9	1990	c.1968G>A	c.(1966-1968)acG>acA	p.T656T	PTPRH_ENST00000263434.5_Silent_p.T478T|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	656	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGAGGCTCTGCGTGGAACTGG	0.547													False	0	False	19:55708507	0	T	55708507	C	T	55708507	2	4	88	1	0	0	0	0	0	0	0	1	12882	755	27	1		1	PTPRH	19	55708507	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11586	55708507	3420476	18981	26693											
PTPRH	5794	broad.mit.edu	37	chr19	55708767	55708767	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgagtttcattctggagatCtgtgacctcattgggagctg	12	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55708767C>T	ENST00000376350.3	-	9	1730	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	PTPRH_ENST00000263434.5_Missense_Mutation_p.D392N|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	570	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTCTGGAGATCTGTGACCTCA	0.557													False	0	False	19:55708767	0	T	55708767	C	T	55708767	3	4	88	1	0	0	0	0	1	0	0	0	12882	913	32	2	1687	2	PTPRH	19	55708767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	260	55708767	3420216	18982	26694											
PTPRH	5794	broad.mit.edu	37	chr19	55713637	55713637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggacctcccaggtcagggCgatggagctgttggtctgag	18	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55713637C>T	ENST00000376350.3	-	6	962	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	PTPRH_ENST00000263434.5_Missense_Mutation_p.A136T|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	314	Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAGGTCAGGGCGATGGAGCTG	0.582													False	0	True	19:55713637	0	T	55713637	C	T	55713637	3	4	88	1	0	0	0	0	1	0	0	0	12882	768	27	1	2467	1	PTPRH	19	55713637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4870	55713637	3415346	18983	26695											
HSPBP1	23640	broad.mit.edu	37	chr19	55777302	55777302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggggctgtgctctgtcCgcaccagggccaccagctgc	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55777302C>T	ENST00000255631.5	-	7	1155	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	HSPBP1_ENST00000587922.1_Missense_Mutation_p.R282Q|HSPBP1_ENST00000433386.2_Missense_Mutation_p.R282Q|HSPBP1_ENST00000376343.3_Intron	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	285					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTGCTCTGTCCGCACCAGGGC	0.687													False	0	False	19:55777302	0	T	55777302	C	T	55777302	3	4	88	1	0	0	0	0	1	0	0	0	7476	652	23	1	246	1	HSPBP1	19	55777302	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63665	55777302	3351681	18984	26696											
BRSK1	84446	broad.mit.edu	37	chr19	55805718	55805718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaaaatatgatggccgcCgggcagacatgtggagctgt	16	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55805718C>T	ENST00000309383.1	+	7	908	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	BRSK1_ENST00000585418.1_Missense_Mutation_p.R211W|BRSK1_ENST00000590333.1_Missense_Mutation_p.R227W	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	211	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGATGGCCGCCGGGCAGACAT	0.592													False	0	True	19:55805718	0	T	55805718	C	T	55805718	3	4	88	1	0	0	0	0	1	0	0	0	1530	643	23	1	657	1	BRSK1	19	55805718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28416	55805718	3323265	18985	26697											
TMEM150B	284417	broad.mit.edu	37	chr19	55824302	55824302	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacggctgaacacacagggtGcagctctccagggcggagaa	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55824302G>T	ENST00000326652.4	-	8	809	c.627C>A	c.(625-627)tgC>tgA	p.C209*	TMEM150B_ENST00000438693.1_Nonsense_Mutation_p.C209*	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	209						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CACACAGGGTGCAGCTCTCCA	0.692													False	0	False	19:55824302	0	T	55824302	G	T	55824302	4	4	88	1	0	0	0	0	0	1	0	0	16150	1311	46	3	78	3	TMEM150B	19	55824302	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18584	55824302	3304681	18986	26698											
SUV420H2	84787	broad.mit.edu	37	chr19	55853326	55853326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggcccgacagagtgacaGcacgagaactgtgcgagaac	15	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55853326G>T	ENST00000255613.3	+	2	270	c.22G>T	c.(22-24)Gca>Tca	p.A8S	SUV420H2_ENST00000402499.4_3'UTR|AC020922.1_ENST00000539076.1_5'UTR	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGAGTGACAGCACGAGAACT	0.652													False	0	False	19:55853326	0	T	55853326	G	T	55853326	3	4	88	1	0	0	0	0	1	0	0	0	15497	971	34	3	24	3	SUV420H2	19	55853326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29024	55853326	3275657	18987	26699											
SUV420H2	84787	broad.mit.edu	37	chr19	55857588	55857588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttggccctcagtttgtgcCtgcagatgggaacgcagcct	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55857588C>A	ENST00000255613.3	+	7	826	c.578C>A	c.(577-579)cCt>cAt	p.P193H		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	193	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGTTTGTGCCTGCAGATGGG	0.667													False	0	False	19:55857588	0	A	55857588	C	A	55857588	3	1	88	1	0	0	0	0	1	0	0	0	15497	681	24	3	600	3	SUV420H2	19	55857588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4262	55857588	3271395	18988	26700											
RPL28	6158	broad.mit.edu	37	chr19	55899621	55899621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccccaggcagccatccGcagggccagcgccatcctgc	11	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55899621G>A	ENST00000344063.2	+	5	964	c.335G>A	c.(334-336)cGc>cAc	p.R112H	RPL28_ENST00000559463.1_Missense_Mutation_p.R112H|RPL28_ENST00000560583.1_3'UTR|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000558131.1_3'UTR|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000560055.1_Intron			P46779	RL28_HUMAN	ribosomal protein L28	112					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCAGCCATCCGCAGGGCCAGC	0.667													False	0	False	19:55899621	0	A	55899621	G	A	55899621	3	1	88	1	0	0	0	0	1	0	0	0	13656	1087	38	1	585	1	RPL28	19	55899621	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42033	55899621	3229362	18989	26701											
UBE2S	27338	broad.mit.edu	37	chr19	55913000	55913000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccgctgggcccgccgGcgcccccgtggatctctgtg	14	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55913000G>A	ENST00000264552.9	-	4	660	c.473C>T	c.(472-474)gCc>gTc	p.A158V	RPL28_ENST00000560055.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	158					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GGGCCCGCCGGCGCCCCCGTG	0.731													False	0	False	19:55913000	0	A	55913000	G	A	55913000	3	1	88	1	0	0	0	0	1	0	0	0	16956	1203	42	2	199	2	UBE2S	19	55913000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13379	55913000	3215983	18990	26702											
ISOC2	79763	broad.mit.edu	37	chr19	55964733	55964733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtccgctgtctggggcgGgctccttgatgagtttctgg	16	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55964733G>A	ENST00000438389.2	-	5	1184	c.350C>T	c.(349-351)cCc>cTc	p.P117L	ISOC2_ENST00000085068.3_Missense_Mutation_p.P203L|ISOC2_ENST00000425675.2_Missense_Mutation_p.P187L	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	187					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GTCTGGGGCGGGCTCCTTGAT	0.602													False	0	True	19:55964733	0	A	55964733	G	A	55964733	3	1	88	1	0	0	0	0	1	0	0	0	7913	1232	43	2	61	2	ISOC2	19	55964733	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51733	55964733	3164250	18991	26703											
ZNF628	89887	broad.mit.edu	37	chr19	55992598	55992598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctcccacgcggacatggCgccggcctctactgcggagg	15	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55992598C>T	ENST00000391718.2	+	3	591	c.26C>T	c.(25-27)gCg>gTg	p.A9V	ZNF628_ENST00000598519.1_Missense_Mutation_p.A13V	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	9						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GCGGACATGGCGCCGGCCTCT	0.692													False	0	False	19:55992598	0	T	55992598	C	T	55992598	3	4	88	1	0	0	0	0	1	0	0	0	18135	768	27	1	28	1	ZNF628	19	55992598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27865	55992598	3136385	18992	26704											
ZNF628	89887	broad.mit.edu	37	chr19	55992868	55992868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcccaaggccttcaagcGctcctctctgctgcagatcc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55992868G>A	ENST00000391718.2	+	3	861	c.296G>A	c.(295-297)cGc>cAc	p.R99H	ZNF628_ENST00000598519.1_Missense_Mutation_p.R103H	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	99						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GCCTTCAAGCGCTCCTCTCTG	0.667													False	0	False	19:55992868	0	A	55992868	G	A	55992868	3	1	88	1	0	0	0	0	1	0	0	0	18135	1087	38	1	298	1	ZNF628	19	55992868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270	55992868	3136115	18993	26705											
ZNF628	89887	broad.mit.edu	37	chr19	55993021	55993021	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctacccgtgcccggactgccCcaaggccttcaagaactcgt	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55993021C>A	ENST00000391718.2	+	3	1014	c.449C>A	c.(448-450)cCc>cAc	p.P150H	ZNF628_ENST00000598519.1_Missense_Mutation_p.P154H	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	150						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCGGACTGCCCCAAGGCCTTC	0.667													False	0	True	19:55993021	0	A	55993021	C	A	55993021	3	1	88	1	0	0	0	0	1	0	0	0	18135	623	22	3	451	3	ZNF628	19	55993021	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153	55993021	3135962	18994	26706											
ZNF628	89887	broad.mit.edu	37	chr19	55994231	55994231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgcctgcgtcgccaccgCcacgtgcacactggcgagag	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994231C>T	ENST00000391718.2	+	3	2224	c.1659C>T	c.(1657-1659)cgC>cgT	p.R553R	ZNF628_ENST00000598519.1_Silent_p.R557R	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	553						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GTCGCCACCGCCACGTGCACA	0.701													False	0	True	19:55994231	0	T	55994231	C	T	55994231	2	4	88	1	0	0	0	0	0	0	0	1	18135	726	26	2		2	ZNF628	19	55994231	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1210	55994231	3134752	18995	26707											
ZNF628	89887	broad.mit.edu	37	chr19	55994536	55994536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacagcccctgccgccgGcccccagccccctgctccac	7	26	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994536G>A	ENST00000391718.2	+	3	2529	c.1964G>A	c.(1963-1965)gGc>gAc	p.G655D	ZNF628_ENST00000598519.1_Missense_Mutation_p.G659D	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	655	Pro-rich.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCTGCCGCCGGCCCCCAGCCC	0.726													False	0	True	19:55994536	0	A	55994536	G	A	55994536	3	1	88	1	0	0	0	0	1	0	0	0	18135	1203	42	2	1966	2	ZNF628	19	55994536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	305	55994536	3134447	18996	26708											
ZNF628	89887	broad.mit.edu	37	chr19	55995070	55995070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggtccagctccagccagCgcaggaggtgaccacagtcc	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995070C>T	ENST00000391718.2	+	3	3063	c.2498C>T	c.(2497-2499)gCg>gTg	p.A833V	ZNF628_ENST00000598519.1_Missense_Mutation_p.A837V	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	833	4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTCCAGCCAGCGCAGGAGGTG	0.657													False	0	True	19:55995070	0	T	55995070	C	T	55995070	3	4	88	1	0	0	0	0	1	0	0	0	18135	768	27	1	2500	1	ZNF628	19	55995070	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534	55995070	3133913	18997	26709											
ZNF628	89887	broad.mit.edu	37	chr19	55995119	55995119	+	Silent	SNP	G	G	A													ccagcacaggaagtaaccacGgtccagctccagccagcaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995119G>A	ENST00000391718.2	+	3	3112	c.2547G>A	c.(2545-2547)acG>acA	p.T849T	ZNF628_ENST00000598519.1_Silent_p.T853T	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	849	4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGTAACCACGGTCCAGCTCC	0.657													False	0	False	19:55995119	0	A	55995119	G	A	55995119	2	1	88	1	0	0	0	0	0	0	0	1	18135	1103	39	1		1	ZNF628	19	55995119	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49	55995119	3133864	18998	26710	281	2									
ZNF628	89887	broad.mit.edu	37	chr19	55995125	55995125	+	Silent	SNP	G	G	A													caggaagtaaccacggtccaGctccagccagcacaggaggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995125G>A	ENST00000391718.2	+	3	3118	c.2553G>A	c.(2551-2553)caG>caA	p.Q851Q	ZNF628_ENST00000598519.1_Silent_p.Q855Q	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	851	4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCACGGTCCAGCTCCAGCCAG	0.657													False	0	True	19:55995125	0	A	55995125	G	A	55995125	2	1	88	1	0	0	0	0	0	0	0	1	18135	962	34	2		2	ZNF628	19	55995125	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	55995125	3133858	18999	26711	281	2									
SBK2	646643	broad.mit.edu	37	chr19	56042645	56042645	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccagcgagagccccacacaGaactcgtacaggaagccacg	10	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56042645G>A	ENST00000413299.1	-	3	358	c.321C>T	c.(319-321)ttC>ttT	p.F107F	SBK2_ENST00000344158.3_Silent_p.F107F	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	107	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCCCACACAGAACTCGTACA	0.662													False	0	True	19:56042645	0	A	56042645	G	A	56042645	2	1	88	1	0	0	0	0	0	0	0	1	13941	933	33	2		2	SBK2	19	56042645	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47520	56042645	3086338	19000	26712											
FIZ1	84922	broad.mit.edu	37	chr19	56104155	56104155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgccgcctcctccccgccGccctcaccgtggctgacccg	10	23	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56104155G>A	ENST00000221665.3	-	3	1241	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCTCCCCGCCGCCCTCACCGT	0.766													False	0	True	19:56104155	0	A	56104155	G	A	56104155	2	1	88	1	0	0	0	0	0	0	0	1	5940	1074	38	1		1	FIZ1	19	56104155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61510	56104155	3024828	19001	26713											
ZNF524	147807	broad.mit.edu	37	chr19	56113511	56113511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccagacccgttgccttcGcctttgcccggggaggaaga	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56113511G>A	ENST00000591046.1	+	1	267	c.33G>A	c.(31-33)tcG>tcA	p.S11S	ZNF524_ENST00000301073.3_Silent_p.S11S			Q96C55	ZN524_HUMAN	zinc finger protein 524	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S11S(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGTTGCCTTCGCCTTTGCCCG	0.652													False	0	False	19:56113511	0	A	56113511	G	A	56113511	2	1	88	1	0	0	0	0	0	0	0	1	18049	1074	38	1		1	ZNF524	19	56113511	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9356	56113511	3015472	19002	26714											
ZNF524	147807	broad.mit.edu	37	chr19	56114114	56114114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctttacagaggccaacacGctccggcgccatgcgaagcg	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56114114G>A	ENST00000591046.1	+	1	870	c.636G>A	c.(634-636)acG>acA	p.T212T	ZNF524_ENST00000301073.3_Silent_p.T212T			Q96C55	ZN524_HUMAN	zinc finger protein 524	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T212T(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGGCCAACACGCTCCGGCGCC	0.706													False	0	False	19:56114114	0	A	56114114	G	A	56114114	2	1	88	1	0	0	0	0	0	0	0	1	18049	1074	38	1		1	ZNF524	19	56114114	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	603	56114114	3014869	19003	26715											
CCDC106	29903	broad.mit.edu	37	chr19	56160870	56160870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcctggctgcagaagcGcatcgaggacctggaggaag	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56160870G>A	ENST00000586790.1	+	3	1137	c.233G>A	c.(232-234)cGc>cAc	p.R78H	CCDC106_ENST00000591241.1_Missense_Mutation_p.R43H|CCDC106_ENST00000591578.1_Missense_Mutation_p.R78H|CCDC106_ENST00000308964.3_Missense_Mutation_p.R78H|CCDC106_ENST00000588740.1_Missense_Mutation_p.R78H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	78						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTGCAGAAGCGCATCGAGGAC	0.607													False	0	False	19:56160870	0	A	56160870	G	A	56160870	3	1	88	1	0	0	0	0	1	0	0	0	2761	1087	38	1	243	1	CCDC106	19	56160870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46756	56160870	2968113	19004	26716											
CCDC106	29903	broad.mit.edu	37	chr19	56163952	56163952	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcattgtggcccccgAgaagctggccgaggtgggcg	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56163952A>C	ENST00000586790.1	+	5	1587	c.683A>C	c.(682-684)gAg>gCg	p.E228A	CCDC106_ENST00000591241.1_Missense_Mutation_p.E193A|CCDC106_ENST00000591578.1_Missense_Mutation_p.E228A|CCDC106_ENST00000308964.3_Missense_Mutation_p.E228A|CCDC106_ENST00000588740.1_Missense_Mutation_p.E228A			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	228						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GTGGCCCCCGAGAAGCTGGCC	0.662													False	0	False	19:56163952	0	C	56163952	A	C	56163952	3	2	88	1	0	0	0	0	1	0	0	0	2761	304	11	4	701	4	CCDC106	19	56163952	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3082	56163952	2965031	19005	26717											
U2AF2	11338	broad.mit.edu	37	chr19	56172411	56172411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attccctttgaagctgcgggTcagattccagccactgctct	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56172411T>C	ENST00000450554.2	+	5	1301	c.342T>C	c.(340-342)ggT>ggC	p.G114G	U2AF2_ENST00000308924.4_Silent_p.G114G	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	114					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AAGCTGCGGGTCAGATTCCAG	0.597													False	0	True	19:56172411	0	C	56172411	T	C	56172411	2	2	88	1	0	0	0	0	0	0	0	1	16907	1654	58	4		4	U2AF2	19	56172411	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8459	56172411	2956572	19006	26718											
EPN1	29924	broad.mit.edu	37	chr19	56204384	56204384	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgactccgcacggcactgccGacctccgggagcagcgcagg	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56204384G>A	ENST00000411543.2	+	9	2050	c.1503G>A	c.(1501-1503)ccG>ccA	p.P501P	EPN1_ENST00000270460.6_Silent_p.P415P|EPN1_ENST00000085079.7_Silent_p.P389P	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	415	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CGGCACTGCCGACCTCCGGGA	0.677													False	0	False	19:56204384	0	A	56204384	G	A	56204384	2	1	88	1	0	0	0	0	0	0	0	1	5217	1045	37	1		1	EPN1	19	56204384	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31973	56204384	2924599	19007	26719											
EPN1	29924	broad.mit.edu	37	chr19	56206203	56206203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagccccccacctgcagCcacaccaactcccacgcccc	7	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56206203C>T	ENST00000411543.2	+	10	2181	c.1634C>T	c.(1633-1635)gCc>gTc	p.A545V	EPN1_ENST00000270460.6_Missense_Mutation_p.A459V|EPN1_ENST00000085079.7_Missense_Mutation_p.A433V	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	459	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCACCTGCAGCCACACCAACT	0.701													False	0	False	19:56206203	0	T	56206203	C	T	56206203	3	4	88	1	0	0	0	0	1	0	0	0	5217	739	26	2	1751	2	EPN1	19	56206203	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1819	56206203	2922780	19008	26720											
NLRP11	204801	broad.mit.edu	37	chr19	56300721	56300721	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattagtagcaataactatgGcaatatattgacagatatcg	7	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56300721G>T	ENST00000443188.1	-	10	3268	c.2558C>A	c.(2557-2559)gCc>gAc	p.A853D	NLRP11_ENST00000589824.2_Missense_Mutation_p.A799D|NLRP11_ENST00000592953.1_Missense_Mutation_p.A754D|NLRP11_ENST00000360133.3_Missense_Mutation_p.A799D|NLRP11_ENST00000589093.1_Missense_Mutation_p.A853D	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	853							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATAACTATGGCAATATATTG	0.408													False	0	False	19:56300721	0	T	56300721	G	T	56300721	3	4	88	1	0	0	0	0	1	0	0	0	10541	1203	42	3	555	3	NLRP11	19	56300721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94518	56300721	2828262	19009	26721											
NLRP11	204801	broad.mit.edu	37	chr19	56320642	56320642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtgtatgaacttgtaaCggtctttatgagtgttgctc	10	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56320642C>T	ENST00000443188.1	-	5	2044	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	NLRP11_ENST00000589824.2_Missense_Mutation_p.R445H|NLRP11_ENST00000592953.1_Missense_Mutation_p.R346H|NLRP11_ENST00000360133.3_Missense_Mutation_p.R445H|NLRP11_ENST00000589093.1_Missense_Mutation_p.R445H	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	445	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAACTTGTAACGGTCTTTATG	0.468													False	0	False	19:56320642	0	T	56320642	C	T	56320642	3	4	88	1	0	0	0	0	1	0	0	0	10541	536	19	1	1799	1	NLRP11	19	56320642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19921	56320642	2808341	19010	26722											
NLRP4	147945	broad.mit.edu	37	chr19	56369008	56369008	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaatgcttaactttgtgGgttttctctcctcttgccct	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56369008G>A	ENST00000587891.1	+	1	198	c.24G>A	c.(22-24)tgG>tgA	p.W8*	NLRP4_ENST00000301295.6_Intron|NLRP4_ENST00000346986.5_Intron			Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	0	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAACTTTGTGGGTTTTCTCTC	0.473													False	0	True	19:56369008	0	A	56369008	G	A	56369008	4	1	88	1	0	0	0	0	0	1	0	0	10547	1247	43	2		2	NLRP4	19	56369008	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48366	56369008	2759975	19011	26723											
NLRP13	126204	broad.mit.edu	37	chr19	56407480	56407480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgtcagattgcatttcGccaacctaggggcgggtggg	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56407480G>A	ENST00000588751.1	-	11	2987	c.2963C>T	c.(2962-2964)gCg>gTg	p.A988V	NLRP13_ENST00000342929.3_Missense_Mutation_p.A988V			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	988							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATTGCATTTCGCCAACCTAGG	0.458													False	0	False	19:56407480	0	A	56407480	G	A	56407480	3	1	88	1	0	0	0	0	1	0	0	0	10543	1087	38	1	170	1	NLRP13	19	56407480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38472	56407480	2721503	19012	26724											
NLRP13	126204	broad.mit.edu	37	chr19	56423641	56423641	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattgaactcgtagagagaAtcaatgaaaggcacttccag	9	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56423641A>G	ENST00000588751.1	-	5	1566	c.1542T>C	c.(1540-1542)gaT>gaC	p.D514D	NLRP13_ENST00000342929.3_Silent_p.D514D			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	514	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGTAGAGAGAATCAATGAAAG	0.468													False	0	True	19:56423641	0	G	56423641	A	G	56423641	2	3	88	1	0	0	0	0	0	0	0	1	10543	98	4	4		4	NLRP13	19	56423641	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16161	56423641	2705342	19013	26725											
NLRP13	126204	broad.mit.edu	37	chr19	56423953	56423953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcgttttttcttagctgCtgcaggattttctcaacttc	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56423953C>T	ENST00000588751.1	-	5	1254	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	NLRP13_ENST00000342929.3_Silent_p.Q410Q			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	410	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTCTTAGCTGCTGCAGGATTT	0.458													False	0	False	19:56423953	0	T	56423953	C	T	56423953	2	4	88	1	0	0	0	0	0	0	0	1	10543	796	28	2		2	NLRP13	19	56423953	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	312	56423953	2705030	19014	26726											
NLRP8	126205	broad.mit.edu	37	chr19	56466053	56466053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caagaccgtggccatacaggGagctcctgggatcggaaaaa	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56466053G>T	ENST00000291971.3	+	3	700	c.629G>T	c.(628-630)gGa>gTa	p.G210V	NLRP8_ENST00000590542.1_Missense_Mutation_p.G210V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	210	NACHT.					cytoplasm	ATP binding	p.G210E(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCCATACAGGGAGCTCCTGGG	0.522													False	0	True	19:56466053	0	T	56466053	G	T	56466053	3	4	88	1	0	0	0	0	1	0	0	0	10551	1174	41	3	639	3	NLRP8	19	56466053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42100	56466053	2662930	19015	26727											
NLRP8	126205	broad.mit.edu	37	chr19	56466774	56466774	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaagatccaccaagcacaActggaaggtctgtgtcactt	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56466774A>C	ENST00000291971.3	+	3	1421	c.1350A>C	c.(1348-1350)caA>caC	p.Q450H	NLRP8_ENST00000590542.1_Missense_Mutation_p.Q450H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	450	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCAAGCACAACTGGAAGGTC	0.498													False	0	False	19:56466774	0	C	56466774	A	C	56466774	3	2	88	1	0	0	0	0	1	0	0	0	10551	40	2	4	1360	4	NLRP8	19	56466774	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	721	56466774	2662209	19016	26728											
NLRP8	126205	broad.mit.edu	37	chr19	56477586	56477586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccctctccagcctaaggCgtgtgaatagcaccatgttg	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56477586C>T	ENST00000291971.3	+	5	2292	c.2221C>T	c.(2221-2223)Cgt>Tgt	p.R741C	NLRP8_ENST00000590542.1_Missense_Mutation_p.R741C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	741						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAGCCTAAGGCGTGTGAATAG	0.517													False	0	False	19:56477586	0	T	56477586	C	T	56477586	3	4	88	1	0	0	0	0	1	0	0	0	10551	768	27	1	2239	1	NLRP8	19	56477586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10812	56477586	2651397	19017	26729											
NLRP5	126206	broad.mit.edu	37	chr19	56539009	56539009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcgaccagtgccaggtGcccgccgtgggctctctcat	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56539009G>A	ENST00000390649.3	+	7	1410	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	470	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGTGCCAGGTGCCCGCCGTGG	0.632													False	0	True	19:56539009	0	A	56539009	G	A	56539009	2	1	88	1	0	0	0	0	0	0	0	1	10548	1306	46	2		2	NLRP5	19	56539009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61423	56539009	2589974	19018	26730											
ZNF787	126208	broad.mit.edu	37	chr19	56600023	56600023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgaagggcttgaggccgCtgtgcgagcgccggtgcttg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56600023C>T	ENST00000270459.3	-	3	636	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CTTGAGGCCGCTGTGCGAGCG	0.716													False	0	False	19:56600023	0	T	56600023	C	T	56600023	3	4	88	1	0	0	0	0	1	0	0	0	18241	797	28	2	637	2	ZNF787	19	56600023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61014	56600023	2528960	19019	26731											
ZNF787	126208	broad.mit.edu	37	chr19	56600160	56600160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagctgaagcgcttgccGcactccaagcaggcgtaggg	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56600160G>A	ENST00000270459.3	-	3	499	c.381C>T	c.(379-381)tgC>tgT	p.C127C		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		AGCGCTTGCCGCACTCCAAGC	0.672													False	0	False	19:56600160	0	A	56600160	G	A	56600160	2	1	88	1	0	0	0	0	0	0	0	1	18241	1079	38	1		1	ZNF787	19	56600160	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137	56600160	2528823	19020	26732											
ZNF787	126208	broad.mit.edu	37	chr19	56614364	56614364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagtgcaaggcccagggCgggaggggaggccagggtcg	22	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56614364C>T	ENST00000587279.1	-	2	311	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	ZNF787_ENST00000270459.3_Intron			Q6DD87	ZN787_HUMAN	zinc finger protein 787	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		AGGCCCAGGGCGGGAGGGGAG	0.647													False	0	True	19:56614364	0	T	56614364	C	T	56614364	3	4	88	1	0	0	0	0	1	0	0	0	18241	783	27	1		1	ZNF787	19	56614364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14204	56614364	2514619	19021	26733											
ZNF787	126208	broad.mit.edu	37	chr19	56614517	56614517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggctgctcacctgggttctCgtgactggccatctgctggt	13	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56614517C>T	ENST00000270459.3	-	2	188	c.70G>A	c.(70-72)Gag>Aag	p.E24K	ZNF787_ENST00000587279.1_Missense_Mutation_p.E24K	NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CCTGGGTTCTCGTGACTGGCC	0.642													False	0	False	19:56614517	0	T	56614517	C	T	56614517	3	4	88	1	0	0	0	0	1	0	0	0	18241	893	31	1	1089	1	ZNF787	19	56614517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153	56614517	2514466	19022	26734											
ZNF444	55311	broad.mit.edu	37	chr19	56658505	56658505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcgcgctgcccgccgaCacgcaggcctgggtgtgcag	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56658505C>T	ENST00000337080.3	+	3	592	c.225C>T	c.(223-225)gaC>gaT	p.D75D	ZNF444_ENST00000592949.1_Silent_p.D75D	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	75	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		TGCCCGCCGACACGCAGGCCT	0.716													False	0	False	19:56658505	0	T	56658505	C	T	56658505	2	4	88	1	0	0	0	0	0	0	0	1	18000	477	17	2		2	ZNF444	19	56658505	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43988	56658505	2470478	19023	26735											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704380	56704380	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgacccagggctgttgcaGggtcctccctgaccccatga	11	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56704380G>T	ENST00000586855.2	-	2	355	c.42C>A	c.(40-42)ccC>ccA	p.P14P	ZSCAN5B_ENST00000358992.3_Silent_p.P14P			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	14					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGCTGTTGCAGGGTCCTCCCT	0.507													False	0	True	19:56704380	0	T	56704380	G	T	56704380	2	4	88	1	0	0	0	0	0	0	0	1	18321	987	35	3		3	ZSCAN5B	19	56704380	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45875	56704380	2424603	19024	26736											
ZNF583	147949	broad.mit.edu	37	chr19	56935069	56935069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatcagagaattcatacaGgagagaaaccttatgtgtgt	10	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935069G>A	ENST00000333201.9	+	5	1252	c.1042G>A	c.(1042-1044)Gga>Aga	p.G348R	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.G348R	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AATTCATACAGGAGAGAAACC	0.413													False	0	True	19:56935069	0	A	56935069	G	A	56935069	3	1	88	1	0	0	0	0	1	0	0	0	18098	1001	35	2	1056	2	ZNF583	19	56935069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230689	56935069	2193914	19025	26737											
ZNF583	147949	broad.mit.edu	37	chr19	56935091	56935091	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaccttatgtgtgtaAtgtgtgtgggaaagccttta	12	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935091A>C	ENST00000333201.9	+	5	1274	c.1064A>C	c.(1063-1065)aAt>aCt	p.N355T	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.N355T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TATGTGTGTAATGTGTGTGGG	0.408													False	0	True	19:56935091	0	C	56935091	A	C	56935091	3	2	88	1	0	0	0	0	1	0	0	0	18098	101	4	4	1078	4	ZNF583	19	56935091	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22	56935091	2193892	19026	26738											
ZNF583	147949	broad.mit.edu	37	chr19	56935280	56935280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatgtaggaaagccttcaGccaaattgcataccttgatc	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935280G>A	ENST00000333201.9	+	5	1463	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.S418N	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AAAGCCTTCAGCCAAATTGCA	0.408													False	0	False	19:56935280	0	A	56935280	G	A	56935280	3	1	88	1	0	0	0	0	1	0	0	0	18098	971	34	2	1267	2	ZNF583	19	56935280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189	56935280	2193703	19027	26739											
ZNF583	147949	broad.mit.edu	37	chr19	56935478	56935478	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggccttgctcaacatcagaGaattcatactggagagaaac	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935478G>T	ENST00000333201.9	+	5	1661	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.R484I	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAACATCAGAGAATTCATACT	0.383													False	0	False	19:56935478	0	T	56935478	G	T	56935478	3	4	88	1	0	0	0	0	1	0	0	0	18098	942	33	3	1465	3	ZNF583	19	56935478	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	198	56935478	2193505	19028	26740											
ZNF667	63934	broad.mit.edu	37	chr19	56973726	56973726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggatttggatttccccCgtgcagaaggcatcctttcc	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56973726C>T	ENST00000591790.1	-	2	1442	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	ZNF667_ENST00000504904.3_Missense_Mutation_p.R5Q|ZNF667_ENST00000292069.6_Missense_Mutation_p.R5Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.R98Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGATTTCCCCCGTGCAGAAGG	0.537													False	0	True	19:56973726	0	T	56973726	C	T	56973726	3	4	88	1	0	0	0	0	1	0	0	0	18157	652	23	1	1834	1	ZNF667	19	56973726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38248	56973726	2155257	19029	26741											
ZNF471	57573	broad.mit.edu	37	chr19	57036570	57036570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaagccttttaattgcatTgattgtgggaaagccttcag	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57036570T>C	ENST00000591537.1	+	5	839	c.713T>C	c.(712-714)tTg>tCg	p.L238S	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000308031.5_Silent_p.I378I			Q9BX82	ZN471_HUMAN	zinc finger protein 471	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TTAATTGCATTGATTGTGGGA	0.393													False	0	True	19:57036570	0	C	57036570	T	C	57036570	3	2	88	1	0	0	0	0	1	0	0	0	18013	1800	63	4	1148	4	ZNF471	19	57036570	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62844	57036570	2092413	19030	26742											
ZFP28	140612	broad.mit.edu	37	chr19	57060343	57060343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcagacttgaaggctgtgtgGaagatcaaggagttacctct	12	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57060343G>T	ENST00000301318.3	+	5	611	c.540G>T	c.(538-540)tgG>tgT	p.W180C	ZFP28_ENST00000591844.1_Missense_Mutation_p.W180C|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGGCTGTGTGGAAGATCAAGG	0.378													False	0	True	19:57060343	0	T	57060343	G	T	57060343	3	4	88	1	0	0	0	0	1	0	0	0	17725	1183	41	3	558	3	ZFP28	19	57060343	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23773	57060343	2068640	19031	26743											
ZNF470	388566	broad.mit.edu	37	chr19	57088168	57088168	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccggcaatcataatggaaaGacttaaaagctatgaccttg	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57088168G>A	ENST00000330619.8	+	6	1057	c.371G>A	c.(370-372)aGa>aAa	p.R124K	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R124K	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAATGGAAAGACTTAAAAGC	0.363													False	0	True	19:57088168	0	A	57088168	G	A	57088168	3	1	88	1	0	0	0	0	1	0	0	0	18012	942	33	2	385	2	ZNF470	19	57088168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27825	57088168	2040815	19032	26744											
ZNF470	388566	broad.mit.edu	37	chr19	57088924	57088924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtattgactgtgggaaagCtttcaggcagaatgcttctc	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57088924C>T	ENST00000330619.8	+	6	1813	c.1127C>T	c.(1126-1128)gCt>gTt	p.A376V	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.A376V	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGTGGGAAAGCTTTCAGGCAG	0.423													False	0	True	19:57088924	0	T	57088924	C	T	57088924	3	4	88	1	0	0	0	0	1	0	0	0	18012	797	28	2	1141	2	ZNF470	19	57088924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	756	57088924	2040059	19033	26745											
ZNF470	388566	broad.mit.edu	37	chr19	57089370	57089370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccagaatgcacacctcGcgcaacatcagaaaatacac	6	14	2	2	rs140617949	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57089370G>A	ENST00000330619.8	+	6	2259	c.1573G>A	c.(1573-1575)Gcg>Acg	p.A525T	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.A525T	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGCACACCTCGCGCAACATCA	0.458													False	0	False	19:57089370	0	A	57089370	G	A	57089370	3	1	88	1	0	0	0	0	1	0	0	0	18012	1087	38	1	1587	1	ZNF470	19	57089370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	446	57089370	2039613	19034	26746											
ZNF470	388566	broad.mit.edu	37	chr19	57089583	57089583	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaaaagaccgtatgaatgtCttgaatgtgggaaggcattc	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57089583C>A	ENST00000330619.8	+	6	2472	c.1786C>A	c.(1786-1788)Ctt>Att	p.L596I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L596I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GTATGAATGTCTTGAATGTGG	0.433													False	0	False	19:57089583	0	A	57089583	C	A	57089583	3	1	88	1	0	0	0	0	1	0	0	0	18012	913	32	3	1800	3	ZNF470	19	57089583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	213	57089583	2039400	19035	26747											
ZNF71	58491	broad.mit.edu	37	chr19	57133136	57133136	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagaaaagccgtttgagtgtGacacctgtgggaagcacttc	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133136G>A	ENST00000328070.6	+	3	715	c.481G>A	c.(481-483)Gac>Aac	p.D161N		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	161						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GTTTGAGTGTGACACCTGTGG	0.597													False	0	False	19:57133136	0	A	57133136	G	A	57133136	3	1	88	1	0	0	0	0	1	0	0	0	18197	1290	45	2	483	2	ZNF71	19	57133136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43553	57133136	1995847	19036	26748											
ZNF71	58491	broad.mit.edu	37	chr19	57133840	57133840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcacttcacggggcgctcGtccctcatcgtgcaccagat	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133840G>A	ENST00000328070.6	+	3	1419	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	395						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGGGGCGCTCGTCCCTCATCG	0.632													False	0	False	19:57133840	0	A	57133840	G	A	57133840	2	1	88	1	0	0	0	0	0	0	0	1	18197	1132	40	1		1	ZNF71	19	57133840	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704	57133840	1995143	19037	26749											
ZNF71	58491	broad.mit.edu	37	chr19	57133900	57133900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacgtgtgcggcgagtgCggcaaggccttcagccagag	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133900C>T	ENST00000328070.6	+	3	1479	c.1245C>T	c.(1243-1245)tgC>tgT	p.C415C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	415						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCGGCGAGTGCGGCAAGGCCT	0.632													False	0	False	19:57133900	0	T	57133900	C	T	57133900	2	4	88	1	0	0	0	0	0	0	0	1	18197	776	27	1		1	ZNF71	19	57133900	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	57133900	1995083	19038	26750											
ZNF71	58491	broad.mit.edu	37	chr19	57134102	57134102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcaacacgaacctgacgCgccacctgcggattcacacc	9	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57134102C>T	ENST00000328070.6	+	3	1681	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	483						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GAACCTGACGCGCCACCTGCG	0.652													False	0	False	19:57134102	0	T	57134102	C	T	57134102	3	4	88	1	0	0	0	0	1	0	0	0	18197	768	27	1	1449	1	ZNF71	19	57134102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202	57134102	1994881	19039	26751											
ZNF835	90485	broad.mit.edu	37	chr19	57175068	57175068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagctgggcaaaggcgtcccGaactgtctgcatgcgtcctc	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175068G>A	ENST00000537055.2	-	2	1730	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AAGGCGTCCCGAACTGTCTGC	0.642													False	0	True	19:57175068	0	A	57175068	G	A	57175068	3	1	88	1	0	0	0	0	1	0	0	0	18268	1059	37	1	116	1	ZNF835	19	57175068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40966	57175068	1953915	19040	26752											
ZNF835	90485	broad.mit.edu	37	chr19	57175214	57175214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttgctgaaggccttgccGcactcggggcaggtgtaggg	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175214G>A	ENST00000537055.2	-	2	1584	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGGCCTTGCCGCACTCGGGGC	0.672													False	0	False	19:57175214	0	A	57175214	G	A	57175214	2	1	88	1	0	0	0	0	0	0	0	1	18268	1079	38	1		1	ZNF835	19	57175214	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	57175214	1953769	19041	26753											
ZNF835	90485	broad.mit.edu	37	chr19	57175556	57175556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggccttggcgcactgGccgcacgcgtagggcttctc	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175556G>A	ENST00000537055.2	-	2	1242	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGGCGCACTGGCCGCACGCGT	0.697													False	0	False	19:57175556	0	A	57175556	G	A	57175556	2	1	88	1	0	0	0	0	0	0	0	1	18268	1190	42	2		2	ZNF835	19	57175556	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342	57175556	1953427	19042	26754											
ZNF835	90485	broad.mit.edu	37	chr19	57175789	57175789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagcgctgaggagaagcGgaaggccttggcgcacgcgg	19	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175789G>A	ENST00000537055.2	-	2	1009	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GAGGAGAAGCGGAAGGCCTTG	0.672													False	0	False	19:57175789	0	A	57175789	G	A	57175789	3	1	88	1	0	0	0	0	1	0	0	0	18268	1116	39	1	837	1	ZNF835	19	57175789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233	57175789	1953194	19043	26755											
ZNF835	90485	broad.mit.edu	37	chr19	57175850	57175850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgtggatgcgctggtgCtctatcagggacgagcggtt	17	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175850C>T	ENST00000537055.2	-	2	948	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCGCTGGTGCTCTATCAGGG	0.687													False	0	False	19:57175850	0	T	57175850	C	T	57175850	2	4	88	1	0	0	0	0	0	0	0	1	18268	796	28	2		2	ZNF835	19	57175850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61	57175850	1953133	19044	26756											
ZNF835	90485	broad.mit.edu	37	chr19	57176450	57176450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtctcccttgcaggccacGgcctctggctctggacagct	13	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57176450G>A	ENST00000537055.2	-	2	348	c.117C>T	c.(115-117)gcC>gcT	p.A39A		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCAGGCCACGGCCTCTGGCT	0.602													False	0	False	19:57176450	0	A	57176450	G	A	57176450	2	1	88	1	0	0	0	0	0	0	0	1	18268	1103	39	1		1	ZNF835	19	57176450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	600	57176450	1952533	19045	26757											
ZNF835	90485	broad.mit.edu	37	chr19	57176546	57176546	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactctgcgccctggagggcGacgctcaagagtccctccat	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57176546G>A	ENST00000537055.2	-	2	252	c.21C>T	c.(19-21)gtC>gtT	p.V7V		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCTGGAGGGCGACGCTCAAGA	0.512													False	0	False	19:57176546	0	A	57176546	G	A	57176546	2	1	88	1	0	0	0	0	0	0	0	1	18268	1045	37	1		1	ZNF835	19	57176546	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96	57176546	1952437	19046	26758											
ZIM2	23619	broad.mit.edu	37	chr19	57286249	57286249	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtcacaacactggcaggctCtctctccaacgtagtcatgt	8	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286249C>A	ENST00000391708.3	-	12	1933	c.1391G>T	c.(1390-1392)aGa>aTa	p.R464I	ZIM2_ENST00000599935.1_Missense_Mutation_p.R464I|ZIM2_ENST00000593711.1_Missense_Mutation_p.R464I|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.R464I|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.R464I|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTGGCAGGCTCTCTCTCCAAC	0.483													False	0	True	19:57286249	0	A	57286249	C	A	57286249	3	1	88	1	0	0	0	0	1	0	0	0	17767	913	32	3	196	3	ZIM2	19	57286249	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109703	57286249	1842734	19047	26759											
ZIM2	23619	broad.mit.edu	37	chr19	57286274	57286274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaacgtagtcatgtttccGctgataacgaattaagtatg	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286274G>A	ENST00000391708.3	-	12	1908	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	ZIM2_ENST00000599935.1_Missense_Mutation_p.R456W|ZIM2_ENST00000593711.1_Missense_Mutation_p.R456W|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.R456W|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.R456W|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCATGTTTCCGCTGATAACGA	0.468													False	0	False	19:57286274	0	A	57286274	G	A	57286274	3	1	88	1	0	0	0	0	1	0	0	0	17767	1086	38	1	221	1	ZIM2	19	57286274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25	57286274	1842709	19048	26760											
ZIM2	23619	broad.mit.edu	37	chr19	57286700	57286700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactggggactcgtacataTtccaggagcagtgccttcct	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286700T>C	ENST00000391708.3	-	12	1482	c.940A>G	c.(940-942)Ata>Gta	p.I314V	ZIM2_ENST00000599935.1_Missense_Mutation_p.I314V|ZIM2_ENST00000593711.1_Missense_Mutation_p.I314V|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.I314V|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.I314V|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTCGTACATATTCCAGGAGCA	0.443													False	0	False	19:57286700	0	C	57286700	T	C	57286700	3	2	88	1	0	0	0	0	1	0	0	0	17767	1493	52	4	647	4	ZIM2	19	57286700	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	426	57286700	1842283	19049	26761											
PEG3	5178	broad.mit.edu	37	chr19	57325143	57325143	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttctcatcagcttgattgGcaccacctgtgctggtgctg	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57325143G>T	ENST00000326441.9	-	10	5030	c.4667C>A	c.(4666-4668)gCc>gAc	p.A1556D	PEG3_ENST00000598410.1_Missense_Mutation_p.A1432D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A1556D|PEG3_ENST00000593695.1_Missense_Mutation_p.A1430D	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1556					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGCTTGATTGGCACCACCTGT	0.527													False	0	False	19:57325143	0	T	57325143	G	T	57325143	3	4	88	1	0	0	0	0	1	0	0	0	11788	1203	42	3	103	3	PEG3	19	57325143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38443	57325143	1803840	19050	26762											
PEG3	5178	broad.mit.edu	37	chr19	57327375	57327375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactctctgatggttgataGcatcgaagctctgaatggta	11	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57327375G>A	ENST00000326441.9	-	10	2798	c.2435C>T	c.(2434-2436)gCt>gTt	p.A812V	PEG3_ENST00000598410.1_Missense_Mutation_p.A688V|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A812V|PEG3_ENST00000593695.1_Missense_Mutation_p.A686V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	812					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATGGTTGATAGCATCGAAGCT	0.468													False	0	False	19:57327375	0	A	57327375	G	A	57327375	3	1	88	1	0	0	0	0	1	0	0	0	11788	971	34	2	2335	2	PEG3	19	57327375	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2232	57327375	1801608	19051	26763											
PEG3	5178	broad.mit.edu	37	chr19	57328183	57328183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggctaggcatgaaggCttcctcacattcctgattct	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328183C>T	ENST00000326441.9	-	10	1990	c.1627G>A	c.(1627-1629)Gcc>Acc	p.A543T	PEG3_ENST00000598410.1_Missense_Mutation_p.A419T|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A543T|PEG3_ENST00000593695.1_Missense_Mutation_p.A417T	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	543					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCATGAAGGCTTCCTCACAT	0.448													False	0	False	19:57328183	0	T	57328183	C	T	57328183	3	4	88	1	0	0	0	0	1	0	0	0	11788	797	28	2	3143	2	PEG3	19	57328183	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	808	57328183	1800800	19052	26764											
PEG3	5178	broad.mit.edu	37	chr19	57328491	57328491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcaattggctgtgactcgGtaaaggagggggagctgagg	17	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328491G>A	ENST00000326441.9	-	10	1682	c.1319C>T	c.(1318-1320)aCc>aTc	p.T440I	PEG3_ENST00000598410.1_Missense_Mutation_p.T316I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.T440I|PEG3_ENST00000593695.1_Missense_Mutation_p.T314I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	440					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGTGACTCGGTAAAGGAGGG	0.498													False	0	False	19:57328491	0	A	57328491	G	A	57328491	3	1	88	1	0	0	0	0	1	0	0	0	11788	1261	44	2	3451	2	PEG3	19	57328491	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308	57328491	1800492	19053	26765											
PEG3	5178	broad.mit.edu	37	chr19	57328690	57328690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgaattaaacctaaagcCtcccctaaatgcattccctt	5	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328690C>T	ENST00000326441.9	-	10	1483	c.1120G>A	c.(1120-1122)Ggc>Agc	p.G374S	PEG3_ENST00000598410.1_Missense_Mutation_p.G250S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G374S|PEG3_ENST00000593695.1_Missense_Mutation_p.G248S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	374					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AACCTAAAGCCTCCCCTAAAT	0.438													False	0	False	19:57328690	0	T	57328690	C	T	57328690	3	4	88	1	0	0	0	0	1	0	0	0	11788	681	24	2	3650	2	PEG3	19	57328690	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199	57328690	1800293	19054	26766											
PEG3	5178	broad.mit.edu	37	chr19	57333086	57333086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttcaaagcttgttttcGccaccacaggaagggaaaga	9	10	1	1	rs139872811		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57333086G>A	ENST00000326441.9	-	7	965	c.602C>T	c.(601-603)gCg>gTg	p.A201V	PEG3_ENST00000598410.1_Missense_Mutation_p.A76V|ZIM2_ENST00000599935.1_Missense_Mutation_p.A76V|ZIM2_ENST00000593711.1_Missense_Mutation_p.A76V|ZIM2_ENST00000221722.5_Missense_Mutation_p.A76V|ZIM2_ENST00000391708.3_Missense_Mutation_p.A76V|ZIM2_ENST00000601070.1_Missense_Mutation_p.A76V|PEG3_ENST00000423103.2_Missense_Mutation_p.A201V|PEG3_ENST00000593695.1_Missense_Mutation_p.A75V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	201					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A201V(2)|p.A76V(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTTGTTTTCGCCACCACAGG	0.532													False	0	False	19:57333086	0	A	57333086	G	A	57333086	3	1	88	1	0	0	0	0	1	0	0	0	11788	1087	38	1	4183	1	PEG3	19	57333086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4396	57333086	1795897	19055	26767											
ZIM3	0	broad.mit.edu	37	chr19	57646296	57646296	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catggggctcctatctggagTgaattcttttctggtgccta	11	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57646296T>G	ENST00000269834.1	-	5	1794	c.1409A>C	c.(1408-1410)cAc>cCc	p.H470P		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTATCTGGAGTGAATTCTTTT	0.423													False	0	False	19:57646296	0	G	57646296	T	G	57646296	3	3	88	1	0	0	0	0	1	0	0	0	17768	1696	59	4	13	4	ZIM3	19	57646296	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	313210	57646296	1482687	19056	26768											
ZIM3	0	broad.mit.edu	37	chr19	57646919	57646919	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgattaatgcaggatgatttCcaggaaaaggcttttccaca	9	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57646919C>T	ENST00000269834.1	-	5	1171	c.786G>A	c.(784-786)tgG>tgA	p.W262*		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGATGATTTCCAGGAAAAGG	0.373													False	0	True	19:57646919	0	T	57646919	C	T	57646919	4	4	88	1	0	0	0	0	0	1	0	0	17768	856	30	2	636	2	ZIM3	19	57646919	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	623	57646919	1482064	19057	26769											
ZNF264	0	broad.mit.edu	37	chr19	57716805	57716805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctgatctgccacctagaGcatgggcaggagccatggac	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57716805G>T	ENST00000263095.6	+	3	615	c.201G>T	c.(199-201)gaG>gaT	p.E67D	ZNF264_ENST00000536056.1_Missense_Mutation_p.E67D	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GCCACCTAGAGCATGGGCAGG	0.522													False	0	False	19:57716805	0	T	57716805	G	T	57716805	3	4	88	1	0	0	0	0	1	0	0	0	17887	962	34	3	211	3	ZNF264	19	57716805	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69886	57716805	1412178	19058	26770											
ZNF264	0	broad.mit.edu	37	chr19	57722984	57722984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgttcaaggattggacaGgagcaagtctctccaggaga	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57722984G>T	ENST00000263095.6	+	4	933	c.519G>T	c.(517-519)caG>caT	p.Q173H	ZNF264_ENST00000536056.1_Missense_Mutation_p.Q173H	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GGATTGGACAGGAGCAAGTCT	0.468													False	0	False	19:57722984	0	T	57722984	G	T	57722984	3	4	88	1	0	0	0	0	1	0	0	0	17887	991	35	3	533	3	ZNF264	19	57722984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6179	57722984	1405999	19059	26771											
ZNF264	0	broad.mit.edu	37	chr19	57723439	57723439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaatgtggccaagtctttcGacataggccaggctttctcc	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57723439G>A	ENST00000263095.6	+	4	1388	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.R325Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAAGTCTTTCGACATAGGCCA	0.493													False	0	False	19:57723439	0	A	57723439	G	A	57723439	3	1	88	1	0	0	0	0	1	0	0	0	17887	1058	37	1	988	1	ZNF264	19	57723439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	455	57723439	1405544	19060	26772											
AURKC	6795	broad.mit.edu	37	chr19	57746274	57746274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagacaatgtgtgggacaCtggactacttgccgccagaa	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57746274C>T	ENST00000302804.7	+	6	793	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	AURKC_ENST00000598785.1_Silent_p.L169L|AURKC_ENST00000448930.1_Silent_p.L169L|AURKC_ENST00000415300.2_Silent_p.L184L|AURKC_ENST00000599062.1_Silent_p.L200L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	203	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GTGTGGGACACTGGACTACTT	0.483													False	0	False	19:57746274	0	T	57746274	C	T	57746274	2	4	88	1	0	0	0	0	0	0	0	1	1228	564	20	2		2	AURKC	19	57746274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22835	57746274	1382709	19061	26773											
ZNF805	390980	broad.mit.edu	37	chr19	57764897	57764897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatgaatgcacagagtgtgGaaaaacctttagcaagagta	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57764897G>A	ENST00000535550.1	+	4	807	c.311G>A	c.(310-312)gGa>gAa	p.G104E	ZNF805_ENST00000414468.2_Missense_Mutation_p.G237E|ZNF805_ENST00000354309.4_Missense_Mutation_p.G104E	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACAGAGTGTGGAAAAACCTTT	0.468													False	0	True	19:57764897	0	A	57764897	G	A	57764897	3	1	88	1	0	0	0	0	1	0	0	0	18254	1174	41	2	724	2	ZNF805	19	57764897	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18623	57764897	1364086	19062	26774											
ZNF805	390980	broad.mit.edu	37	chr19	57765775	57765775	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaacctcattcgacacTctatcatccacactggagag	6	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57765775T>C	ENST00000535550.1	+	4	1685	c.1189T>C	c.(1189-1191)Tct>Cct	p.S397P	ZNF805_ENST00000414468.2_Missense_Mutation_p.S530P|ZNF805_ENST00000354309.4_Missense_Mutation_p.S397P	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CATTCGACACTCTATCATCCA	0.507													False	0	False	19:57765775	0	C	57765775	T	C	57765775	3	2	88	1	0	0	0	0	1	0	0	0	18254	1551	54	4	1602	4	ZNF805	19	57765775	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	878	57765775	1363208	19063	26775											
ZNF460	10794	broad.mit.edu	37	chr19	57802170	57802170	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacagggagtcccaagataCtcctatttggggcaggccat	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57802170C>A	ENST00000360338.3	+	3	583	c.261C>A	c.(259-261)taC>taA	p.Y87*	ZNF460_ENST00000537645.1_Nonsense_Mutation_p.Y46*	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCAAGATACTCCTATTTGG	0.522													False	0	False	19:57802170	0	A	57802170	C	A	57802170	4	1	88	1	0	0	0	0	0	1	0	0	18007	576	20	3	271	3	ZNF460	19	57802170	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36395	57802170	1326813	19064	26776											
ZNF460	10794	broad.mit.edu	37	chr19	57802419	57802419	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcatgaaggggaaaattcCtataaattcgaggaaatgtt	9	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57802419C>A	ENST00000360338.3	+	3	832	c.510C>A	c.(508-510)tcC>tcA	p.S170S	ZNF460_ENST00000537645.1_Silent_p.S129S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGAAAATTCCTATAAATTCG	0.413													False	0	False	19:57802419	0	A	57802419	C	A	57802419	2	1	88	1	0	0	0	0	0	0	0	1	18007	668	24	3		3	ZNF460	19	57802419	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249	57802419	1326564	19065	26777											
ZNF543	125919	broad.mit.edu	37	chr19	57839196	57839196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccaattagggcaatccaaGgatcaggatgggccatctga	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57839196G>T	ENST00000321545.4	+	4	711	c.366G>T	c.(364-366)aaG>aaT	p.K122N		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCAATCCAAGGATCAGGATG	0.507													False	0	False	19:57839196	0	T	57839196	G	T	57839196	3	4	88	1	0	0	0	0	1	0	0	0	18059	991	35	3	380	3	ZNF543	19	57839196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36777	57839196	1289787	19066	26778											
ZNF543	125919	broad.mit.edu	37	chr19	57840074	57840074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctcaagcagcatcaacGgattcacactggggagaagc	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57840074G>A	ENST00000321545.4	+	4	1589	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGCATCAACGGATTCACACT	0.493													False	0	False	19:57840074	0	A	57840074	G	A	57840074	3	1	88	1	0	0	0	0	1	0	0	0	18059	1116	39	1	1258	1	ZNF543	19	57840074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	878	57840074	1288909	19067	26779											
ZNF304	57343	broad.mit.edu	37	chr19	57868033	57868033	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgttcaaggagaaatcagctCttattaatcacagaaaaatc	6	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868033C>A	ENST00000391705.3	+	4	1080	c.796C>A	c.(796-798)Ctt>Att	p.L266I	ZNF304_ENST00000282286.5_Missense_Mutation_p.L266I|ZNF304_ENST00000443917.2_Missense_Mutation_p.L313I|ZNF304_ENST00000598744.1_Missense_Mutation_p.L224I	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAAATCAGCTCTTATTAATCA	0.433													False	0	False	19:57868033	0	A	57868033	C	A	57868033	3	1	88	1	0	0	0	0	1	0	0	0	17916	913	32	3	806	3	ZNF304	19	57868033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27959	57868033	1260950	19068	26780											
ZNF304	57343	broad.mit.edu	37	chr19	57868238	57868238	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agttcacactggagaaagatCttatgactgcagtgaatgtg	11	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868238C>T	ENST00000391705.3	+	4	1285	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	ZNF304_ENST00000282286.5_Missense_Mutation_p.S334F|ZNF304_ENST00000443917.2_Missense_Mutation_p.S381F|ZNF304_ENST00000598744.1_Missense_Mutation_p.S292F	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	334				S -> P (in Ref. 1; CAC06610).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGAGAAAGATCTTATGACTGC	0.463													False	0	False	19:57868238	0	T	57868238	C	T	57868238	3	4	88	1	0	0	0	0	1	0	0	0	17916	913	32	2	1011	2	ZNF304	19	57868238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205	57868238	1260745	19069	26781											
ZNF304	57343	broad.mit.edu	37	chr19	57868604	57868604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaatgtgggaaggcctTtggctgcaaagacacacttg	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868604T>C	ENST00000391705.3	+	4	1651	c.1367T>C	c.(1366-1368)tTt>tCt	p.F456S	ZNF304_ENST00000282286.5_Missense_Mutation_p.F456S|ZNF304_ENST00000443917.2_Missense_Mutation_p.F503S|ZNF304_ENST00000598744.1_Missense_Mutation_p.F414S	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGGAAGGCCTTTGGCTGCAAA	0.473													False	0	True	19:57868604	0	C	57868604	T	C	57868604	3	2	88	1	0	0	0	0	1	0	0	0	17916	1841	64	4	1377	4	ZNF304	19	57868604	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	366	57868604	1260379	19070	26782											
ZNF548	147694	broad.mit.edu	37	chr19	57909869	57909869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaggagtgtcagaggttAcagcttcaaagccctgtctg	12	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57909869A>G	ENST00000366197.5	+	3	464	c.214A>G	c.(214-216)Aca>Gca	p.T72A	AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.T84A|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000597400.1_3'UTR|AC003002.6_ENST00000596400.1_Intron|AC003002.4_ENST00000597658.1_Missense_Mutation_p.T75A	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCAGAGGTTACAGCTTCAAA	0.512													False	0	False	19:57909869	0	G	57909869	A	G	57909869	3	3	88	1	0	0	0	0	1	0	0	0	18063	391	14	4	264	4	ZNF548	19	57909869	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41265	57909869	1219114	19071	26783											
ZNF548	147694	broad.mit.edu	37	chr19	57910188	57910188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagggccctcaaagcgagtGgaagccatacagggacacag	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57910188G>T	ENST00000366197.5	+	3	783	c.533G>T	c.(532-534)tGg>tTg	p.W178L	AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.W190L|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAAGCGAGTGGAAGCCATAC	0.502													False	0	False	19:57910188	0	T	57910188	G	T	57910188	3	4	88	1	0	0	0	0	1	0	0	0	18063	1357	47	3	583	3	ZNF548	19	57910188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	319	57910188	1218795	19072	26784											
ZNF548	147694	broad.mit.edu	37	chr19	57910367	57910367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaattctttaagtacagtGccaatttcatgaaacatcag	7	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57910367G>A	ENST00000366197.5	+	3	962	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.A250T|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAGTACAGTGCCAATTTCAT	0.388													False	0	False	19:57910367	0	A	57910367	G	A	57910367	3	1	88	1	0	0	0	0	1	0	0	0	18063	1319	46	2	762	2	ZNF548	19	57910367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179	57910367	1218616	19073	26785											
ZNF17	7565	broad.mit.edu	37	chr19	57929366	57929366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagagacacctgcacagCgatgtgatgctggagaactt	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57929366C>T	ENST00000307658.7	+	3	371	c.108C>T	c.(106-108)agC>agT	p.S36S	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000595206.1_Intron|ZNF17_ENST00000601808.1_Silent_p.S34S|AC003002.6_ENST00000596400.1_Silent_p.S46S			P17021	ZNF17_HUMAN	zinc finger protein 17	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ACCTGCACAGCGATGTGATGC	0.453													False	0	False	19:57929366	0	T	57929366	C	T	57929366	2	4	88	1	0	0	0	0	0	0	0	1	17826	767	27	1		1	ZNF17	19	57929366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18999	57929366	1199617	19074	26786											
ZNF749	388567	broad.mit.edu	37	chr19	57954768	57954768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccaccctgaaggcccaGccctgcaagatgtgtagctc	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57954768G>A	ENST00000334181.4	+	3	502	c.252G>A	c.(250-252)caG>caA	p.Q84Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TGAAGGCCCAGCCCTGCAAGA	0.522													False	0	True	19:57954768	0	A	57954768	G	A	57954768	2	1	88	1	0	0	0	0	0	0	0	1	18213	962	34	2		2	ZNF749	19	57954768	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25402	57954768	1174215	19075	26787											
ZNF749	388567	broad.mit.edu	37	chr19	57954793	57954793	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaagatgtgtagctcaattCtgaaggacattctgcacctg	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57954793C>A	ENST00000334181.4	+	3	527	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	93	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGCTCAATTCTGAAGGACAT	0.512													False	0	False	19:57954793	0	A	57954793	C	A	57954793	3	1	88	1	0	0	0	0	1	0	0	0	18213	912	32	3	287	3	ZNF749	19	57954793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25	57954793	1174190	19076	26788											
ZNF749	388567	broad.mit.edu	37	chr19	57955243	57955243	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actccaaccttattaaatatCagcaaaatcatgctggagaa	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57955243C>T	ENST00000334181.4	+	3	977	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	243			Q -> R (in dbSNP:rs12986235).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TATTAAATATCAGCAAAATCA	0.413													False	0	False	19:57955243	0	T	57955243	C	T	57955243	4	4	88	1	0	0	0	0	0	1	0	0	18213	827	29	2	737	2	ZNF749	19	57955243	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	450	57955243	1173740	19077	26789											
ZNF749	388567	broad.mit.edu	37	chr19	57955694	57955694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtggaaaattctttagtcAccgctccacactcaatatgc	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57955694A>G	ENST00000334181.4	+	3	1428	c.1178A>G	c.(1177-1179)cAc>cGc	p.H393R	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTCTTTAGTCACCGCTCCACA	0.423													False	0	False	19:57955694	0	G	57955694	A	G	57955694	3	3	88	1	0	0	0	0	1	0	0	0	18213	159	6	4	1188	4	ZNF749	19	57955694	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	451	57955694	1173289	19078	26790											
ZNF749	388567	broad.mit.edu	37	chr19	57956765	57956765	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aactcacactggagaaaggtCttatgagtgtggtgaatcca	11	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57956765C>A	ENST00000334181.4	+	3	2499	c.2249C>A	c.(2248-2250)tCt>tAt	p.S750Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGAGAAAGGTCTTATGAGTGT	0.398													False	0	False	19:57956765	0	A	57956765	C	A	57956765	3	1	88	1	0	0	0	0	1	0	0	0	18213	913	32	3	2259	3	ZNF749	19	57956765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1071	57956765	1172218	19079	26791											
ZNF749	388567	broad.mit.edu	37	chr19	57956804	57956804	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaagtgtttaaatacaActccagcctcattaaacatc	4	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57956804A>C	ENST00000334181.4	+	3	2538	c.2288A>C	c.(2287-2289)aAc>aCc	p.N763T	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTTAAATACAACTCCAGCCTC	0.408													False	0	False	19:57956804	0	C	57956804	A	C	57956804	3	2	88	1	0	0	0	0	1	0	0	0	18213	43	2	4	2298	4	ZNF749	19	57956804	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39	57956804	1172179	19080	26792											
ZNF772	400720	broad.mit.edu	37	chr19	57987053	57987053	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggccataagtgcaaagttCtccagcatcacatcacggta	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57987053C>A	ENST00000343280.4	-	3	434	c.174G>T	c.(172-174)gaG>gaT	p.E58D	ZNF772_ENST00000356584.3_Missense_Mutation_p.E58D|ZNF772_ENST00000425074.3_Intron|AC004076.9_ENST00000596831.1_Missense_Mutation_p.E58D|ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000427512.2_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GTGCAAAGTTCTCCAGCATCA	0.552													False	0	False	19:57987053	0	A	57987053	C	A	57987053	3	1	88	1	0	0	0	0	1	0	0	0	18227	912	32	3	1307	3	ZNF772	19	57987053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30249	57987053	1141930	19081	26793											
ZNF419	79744	broad.mit.edu	37	chr19	58004751	58004751	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgtaatgctcacctcattGaacaccagagagttcacact	7	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58004751G>A	ENST00000424930.2	+	5	1058	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	ZNF419_ENST00000426954.2_Missense_Mutation_p.E264K|ZNF419_ENST00000221735.7_Missense_Mutation_p.E276K|ZNF419_ENST00000442920.2_Missense_Mutation_p.E263K|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Missense_Mutation_p.E230K|ZNF419_ENST00000347466.6_Missense_Mutation_p.E244K|ZNF419_ENST00000354197.4_Missense_Mutation_p.E264K	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TCACCTCATTGAACACCAGAG	0.413													False	0	False	19:58004751	0	A	58004751	G	A	58004751	3	1	88	1	0	0	0	0	1	0	0	0	17979	1291	45	2	847	2	ZNF419	19	58004751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17698	58004751	1124232	19082	26794											
ZNF419	79744	broad.mit.edu	37	chr19	58004803	58004803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttacatgcagtgaatgtgGaaaagctttcaggcataatt	9	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58004803G>A	ENST00000424930.2	+	5	1110	c.881G>A	c.(880-882)gGa>gAa	p.G294E	ZNF419_ENST00000426954.2_Missense_Mutation_p.G281E|ZNF419_ENST00000221735.7_Missense_Mutation_p.G293E|ZNF419_ENST00000442920.2_Missense_Mutation_p.G280E|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Missense_Mutation_p.G247E|ZNF419_ENST00000347466.6_Missense_Mutation_p.G261E|ZNF419_ENST00000354197.4_Missense_Mutation_p.G281E	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AGTGAATGTGGAAAAGCTTTC	0.418													False	0	True	19:58004803	0	A	58004803	G	A	58004803	3	1	88	1	0	0	0	0	1	0	0	0	17979	1174	41	2	899	2	ZNF419	19	58004803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	58004803	1124180	19083	26795											
ZNF773	374928	broad.mit.edu	37	chr19	58018058	58018058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcagtgaatgtgggaaaGcctttggtcagaaatattta	11	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58018058G>A	ENST00000282292.4	+	4	735	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.A198T	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		ATGTGGGAAAGCCTTTGGTCA	0.453													False	0	True	19:58018058	0	A	58018058	G	A	58018058	3	1	88	1	0	0	0	0	1	0	0	0	18228	971	34	2	609	2	ZNF773	19	58018058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13255	58018058	1110925	19084	26796											
ZNF773	374928	broad.mit.edu	37	chr19	58018743	58018743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaattttttcgccacaGctccagtcttgttaaacatc	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58018743G>A	ENST00000282292.4	+	4	1420	c.1280G>A	c.(1279-1281)aGc>aAc	p.S427N	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.S426N	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TTTCGCCACAGCTCCAGTCTT	0.413													False	0	False	19:58018743	0	A	58018743	G	A	58018743	3	1	88	1	0	0	0	0	1	0	0	0	18228	971	34	2	1294	2	ZNF773	19	58018743	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	685	58018743	1110240	19085	26797											
ZNF549	256051	broad.mit.edu	37	chr19	58048598	58048598	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcatggaatagaggctgagGaggccccttctgagcagact	14	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58048598G>T	ENST00000376233.3	+	4	407	c.226G>T	c.(226-228)Gag>Tag	p.E76*	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E63*	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAGGCTGAGGAGGCCCCTTC	0.463													False	0	False	19:58048598	0	T	58048598	G	T	58048598	4	4	88	1	0	0	0	0	0	1	0	0	18064	1175	41	3	197	3	ZNF549	19	58048598	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29855	58048598	1080385	19086	26798											
ZNF549	256051	broad.mit.edu	37	chr19	58049123	58049123	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaaaagcttataagcgtaggGaatatgggaaatccttgaac	10	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58049123G>T	ENST00000376233.3	+	4	932	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E238*	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAGCGTAGGGAATATGGGAA	0.368													False	0	True	19:58049123	0	T	58049123	G	T	58049123	4	4	88	1	0	0	0	0	0	1	0	0	18064	1175	41	3	722	3	ZNF549	19	58049123	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	525	58049123	1079860	19087	26799											
ZNF550	162972	broad.mit.edu	37	chr19	58058796	58058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggtgctgcatgaggtaCgacctgcgtttgaaggcctt	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58058796C>T	ENST00000325134.5	-	3	876	c.720G>A	c.(718-720)tcG>tcA	p.S240S	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000506609.2_Silent_p.S231S|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000457177.1_Silent_p.S272S			Q7Z398	ZN550_HUMAN	zinc finger protein 550	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCATGAGGTACGACCTGCGTT	0.512													False	0	False	19:58058796	0	T	58058796	C	T	58058796	2	4	88	1	0	0	0	0	0	0	0	1	18065	523	19	1		1	ZNF550	19	58058796	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9673	58058796	1070187	19088	26800											
ZNF550	162972	broad.mit.edu	37	chr19	58059348	58059348	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggctctctggtatgaacTtgtgctctgtcacctgaagg	12	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58059348T>G	ENST00000325134.5	-	3	324	c.168A>C	c.(166-168)caA>caC	p.Q56H	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.Q47H|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000457177.1_Missense_Mutation_p.Q88H			Q7Z398	ZN550_HUMAN	zinc finger protein 550	88	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGTATGAACTTGTGCTCTGT	0.448													False	0	False	19:58059348	0	G	58059348	T	G	58059348	3	3	88	1	0	0	0	0	1	0	0	0	18065	1606	56	4	1008	4	ZNF550	19	58059348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	552	58059348	1069635	19089	26801											
ZNF416	55659	broad.mit.edu	37	chr19	58083494	58083494	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttcaagagttaaacaAtgttagatcttgggctgtag	12	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58083494A>C	ENST00000196489.3	-	4	2000	c.1778T>G	c.(1777-1779)aTt>aGt	p.I593S		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GAGTTAAACAATGTTAGATCT	0.458													False	0	False	19:58083494	0	C	58083494	A	C	58083494	3	2	88	1	0	0	0	0	1	0	0	0	17976	101	4	4	10	4	ZNF416	19	58083494	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24146	58083494	1045489	19090	26802											
ZIK1	284307	broad.mit.edu	37	chr19	58101631	58101631	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgaagagggacatggacaGagcctcatatgtgaagtgct	13	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58101631G>A	ENST00000597850.1	+	4	667	c.452G>A	c.(451-453)aGa>aAa	p.R151K	ZIK1_ENST00000599456.1_Missense_Mutation_p.R96K|ZIK1_ENST00000536878.2_Missense_Mutation_p.R138K|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACATGGACAGAGCCTCATAT	0.493													False	0	False	19:58101631	0	A	58101631	G	A	58101631	3	1	88	1	0	0	0	0	1	0	0	0	17766	942	33	2	466	2	ZIK1	19	58101631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18137	58101631	1027352	19091	26803											
ZNF530	348327	broad.mit.edu	37	chr19	58117676	58117676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgacacaggaaagcacaCggtagaacaaggactcatga	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58117676C>T	ENST00000332854.6	+	3	1003	c.783C>T	c.(781-783)caC>caT	p.H261H	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAAAGCACACGGTAGAACAA	0.438													False	0	False	19:58117676	0	T	58117676	C	T	58117676	2	4	88	1	0	0	0	0	0	0	0	1	18054	535	19	1		1	ZNF530	19	58117676	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16045	58117676	1011307	19092	26804											
ZNF134	7693	broad.mit.edu	37	chr19	58132057	58132057	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttcagccgcaaagacacActtgtccagcaccagagaat	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58132057A>G	ENST00000396161.5	+	3	880	c.570A>G	c.(568-570)acA>acG	p.T190T		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	190						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCAAAGACACACTTGTCCAGC	0.488													False	0	True	19:58132057	0	G	58132057	A	G	58132057	2	3	88	1	0	0	0	0	0	0	0	1	17807	146	6	4		4	ZNF134	19	58132057	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14381	58132057	996926	19093	26805											
ZNF211	0	broad.mit.edu	37	chr19	58152484	58152484	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacgccactcaaacaggggaGaagccaaataacagtaacaa	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58152484G>A	ENST00000544273.1	+	5	993	c.666G>A	c.(664-666)gaG>gaA	p.E222E	ZNF211_ENST00000254182.7_Silent_p.E201E|ZNF211_ENST00000391703.3_Silent_p.E149E|ZNF211_ENST00000240731.4_Silent_p.E223E|ZNF211_ENST00000347302.3_Silent_p.E210E|ZNF211_ENST00000299871.5_Silent_p.E275E|ZNF211_ENST00000420680.1_Silent_p.E214E|ZNF211_ENST00000541801.1_Silent_p.E201E			Q13398	ZN211_HUMAN	zinc finger protein 211	210						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAACAGGGGAGAAGCCAAATA	0.473													False	0	False	19:58152484	0	A	58152484	G	A	58152484	2	1	88	1	0	0	0	0	0	0	0	1	17850	933	33	2		2	ZNF211	19	58152484	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20427	58152484	976499	19094	26806											
ZSCAN4	201516	broad.mit.edu	37	chr19	58189722	58189722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagcagagctagtcactGctagatctcaggaagggtcc	12	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58189722G>A	ENST00000318203.5	+	5	1448	c.751G>A	c.(751-753)Gct>Act	p.A251T		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	251					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTAGTCACTGCTAGATCTCA	0.493													False	0	False	19:58189722	0	A	58189722	G	A	58189722	3	1	88	1	0	0	0	0	1	0	0	0	18319	1319	46	2	761	2	ZSCAN4	19	58189722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37238	58189722	939261	19095	26807											
ZSCAN4	201516	broad.mit.edu	37	chr19	58190148	58190148	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgagagaatccacacaggaGaaaagccttatacatgtccc	8	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58190148G>T	ENST00000318203.5	+	5	1874	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	393					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACACAGGAGAAAAGCCTTA	0.453													False	0	True	19:58190148	0	T	58190148	G	T	58190148	4	4	88	1	0	0	0	0	0	1	0	0	18319	943	33	3	1187	3	ZSCAN4	19	58190148	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	426	58190148	938835	19096	26808											
ZNF671	79891	broad.mit.edu	37	chr19	58232036	58232036	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cataaggcttttctccagagTgaactttctggtgctgaatg	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232036T>G	ENST00000317398.6	-	4	1513	c.1418A>C	c.(1417-1419)cAc>cCc	p.H473P	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.H375P|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTCTCCAGAGTGAACTTTCTG	0.473													False	0	False	19:58232036	0	G	58232036	T	G	58232036	3	3	88	1	0	0	0	0	1	0	0	0	18161	1696	59	4	190	4	ZNF671	19	58232036	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41888	58232036	896947	19097	26809											
ZNF671	79891	broad.mit.edu	37	chr19	58232204	58232204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctttctccagtgtgagttCgttggtgcagaacaagtgtg	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232204C>T	ENST00000317398.6	-	4	1345	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.R319Q|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTGTGAGTTCGTTGGTGCAG	0.488													False	0	False	19:58232204	0	T	58232204	C	T	58232204	3	4	88	1	0	0	0	0	1	0	0	0	18161	884	31	1	358	1	ZNF671	19	58232204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	58232204	896779	19098	26810											
ZNF671	79891	broad.mit.edu	37	chr19	58232254	58232254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaactctttcccacattcGctgcatacataaggcctggc	7	14	1	1	rs147122818		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232254G>A	ENST00000317398.6	-	4	1295	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.S302S|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCCACATTCGCTGCATACAT	0.468													False	0	False	19:58232254	0	A	58232254	G	A	58232254	2	1	88	1	0	0	0	0	0	0	0	1	18161	1078	38	1		1	ZNF671	19	58232254	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	58232254	896729	19099	26811											
ZNF671	79891	broad.mit.edu	37	chr19	58238764	58238764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgcagcacccacccgcgCggagtccgttagctccgcca	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58238764C>T	ENST00000317398.6	-	1	228	c.133G>A	c.(133-135)Gcg>Acg	p.A45T	ZNF671_ENST00000594803.1_5'UTR|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_5'UTR|ZNF671_ENST00000596939.1_Missense_Mutation_p.A45T|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCCACCCGCGCGGAGTCCGTT	0.682													False	0	True	19:58238764	0	T	58238764	C	T	58238764	3	4	88	1	0	0	0	0	1	0	0	0	18161	768	27	1	1487	1	ZNF671	19	58238764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6510	58238764	890219	19100	26812											
ZNF776	284309	broad.mit.edu	37	chr19	58262226	58262226	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctccttagtgaggctcagaGatgcctttatcatgacgtga	10	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58262226G>A	ENST00000317178.5	+	2	370	c.107G>A	c.(106-108)aGa>aAa	p.R36K	ZNF776_ENST00000431353.1_Missense_Mutation_p.R36K|AC003006.7_ENST00000594684.1_Missense_Mutation_p.R36K	NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GAGGCTCAGAGATGCCTTTAT	0.473													False	0	False	19:58262226	0	A	58262226	G	A	58262226	3	1	88	1	0	0	0	0	1	0	0	0	18231	942	33	2	113	2	ZNF776	19	58262226	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23462	58262226	866757	19101	26813											
ZNF586	54807	broad.mit.edu	37	chr19	58290546	58290546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagtctcattaaccacagGaaagttcactctggagcaaa	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58290546G>A	ENST00000396150.4	+	2	611	c.464G>A	c.(463-465)gGa>gAa	p.G155E	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000391702.3_Silent_p.R154R|ZNF586_ENST00000396154.2_Silent_p.R197R	NM_001077426.2	NP_001070894.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAACCACAGGAAAGTTCACT	0.433													False	0	True	19:58290546	0	A	58290546	G	A	58290546	3	1	88	1	0	0	0	0	1	0	0	0	18102	1165	41	2	601	2	ZNF586	19	58290546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28320	58290546	838437	19102	26814											
ZNF552	79818	broad.mit.edu	37	chr19	58320176	58320176	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcgcaaacaacgcctcCtcaacactccctctgtaggg	6	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58320176C>A	ENST00000391701.1	-	3	625	c.456G>T	c.(454-456)gaG>gaT	p.E152D	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACAACGCCTCCTCAACACTCC	0.483													False	0	False	19:58320176	0	A	58320176	C	A	58320176	3	1	88	1	0	0	0	0	1	0	0	0	18067	680	24	3	771	3	ZNF552	19	58320176	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29630	58320176	808807	19103	26815											
ZNF814	730051	broad.mit.edu	37	chr19	58384364	58384364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcactgcactcataaggCttttctccagtgtgaactct	6	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58384364C>T	ENST00000435989.2	-	3	2628	c.2394G>A	c.(2392-2394)aaG>aaA	p.K798K	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	798					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTCATAAGGCTTTTCTCCAG	0.403													False	0	True	19:58384364	0	T	58384364	C	T	58384364	2	4	88	1	0	0	0	0	0	0	0	1	18258	796	28	2		2	ZNF814	19	58384364	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64188	58384364	744619	19104	26816											
ZNF814	730051	broad.mit.edu	37	chr19	58388344	58388344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtacaggcatctctgagCctcactaaggagattccatt	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58388344C>T	ENST00000435989.2	-	2	337	c.103G>A	c.(103-105)Gct>Act	p.A35T	ZNF814_ENST00000597832.1_Missense_Mutation_p.A35T|ZNF814_ENST00000600634.1_Missense_Mutation_p.A35T|ZNF814_ENST00000596604.1_Missense_Mutation_p.A35T|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597807.1_Missense_Mutation_p.A35T|CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000597342.1_Missense_Mutation_p.A64T	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	35	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CATCTCTGAGCCTCACTAAGG	0.488													False	0	False	19:58388344	0	T	58388344	C	T	58388344	3	4	88	1	0	0	0	0	1	0	0	0	18258	739	26	2	2472	2	ZNF814	19	58388344	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3980	58388344	740639	19105	26817											
ZNF417	147687	broad.mit.edu	37	chr19	58420404	58420404	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctgtacctaaatgatttCccacattccttgcactcata	4	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58420404C>T	ENST00000312026.5	-	3	1406	c.1242G>A	c.(1240-1242)ggG>ggA	p.G414G	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Silent_p.G413G|ZNF417_ENST00000536263.1_Silent_p.G215G	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TAAATGATTTCCCACATTCCT	0.443													False	0	True	19:58420404	0	T	58420404	C	T	58420404	2	4	88	1	0	0	0	0	0	0	0	1	17977	842	30	2		2	ZNF417	19	58420404	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32060	58420404	708579	19106	26818											
ZNF417	147687	broad.mit.edu	37	chr19	58421078	58421078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtcttctctacagcagCtgcttcttggcacaatcctg	8	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58421078C>T	ENST00000312026.5	-	3	732	c.568G>A	c.(568-570)Gct>Act	p.A190T	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.A189T|ZNF417_ENST00000536263.1_5'UTR	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCTACAGCAGCTGCTTCTTGG	0.483													False	0	False	19:58421078	0	T	58421078	C	T	58421078	3	4	88	1	0	0	0	0	1	0	0	0	17977	797	28	2	1163	2	ZNF417	19	58421078	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	674	58421078	707905	19107	26819											
ZNF417	147687	broad.mit.edu	37	chr19	58423469	58423469	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttctctagcatcacatcaCggtacaagcacctctgagcc	8	14	4	1	rs142600905	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58423469C>T	ENST00000536263.1	-	0	478				CTD-2583A14.9_ENST00000602124.1_De_novo_Start_OutOfFrame|ZNF417_ENST00000312026.5_Missense_Mutation_p.R41H|ZNF417_ENST00000595559.1_Missense_Mutation_p.R40H			Q8TAU3	ZN417_HUMAN	zinc finger protein 417						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CATCACATCACGGTACAAGCA	0.498													False	0	True	19:58423469	0	T	58423469	C	T	58423469	1	4	88	1	0	0	0	0	0	0	0	0	17977	536	19	1		1	ZNF417	19	58423469	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2391	58423469	705514	19108	26820											
ZNF256	10172	broad.mit.edu	37	chr19	58452630	58452630	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attgcactcataaggcctttCtccagtgtgaactctctggt	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58452630C>A	ENST00000282308.3	-	3	1742	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	516					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TAAGGCCTTTCTCCAGTGTGA	0.463													False	0	True	19:58452630	0	A	58452630	C	A	58452630	4	1	88	1	0	0	0	0	0	1	0	0	17882	922	32	3	341	3	ZNF256	19	58452630	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29161	58452630	676353	19109	26821											
C19orf18	147685	broad.mit.edu	37	chr19	58470038	58470038	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctgttactgagttttgctCttccttcagtttcttcttaa	5	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58470038C>A	ENST00000314391.3	-	6	681	c.580G>T	c.(580-582)Gag>Tag	p.E194*		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	194						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GAGTTTTGCTCTTCCTTCAGT	0.338													False	0	True	19:58470038	0	A	58470038	C	A	58470038	4	1	88	1	0	0	0	0	0	1	0	0	1925	922	32	3	71	3	C19orf18	19	58470038	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17408	58470038	658945	19110	26822											
C19orf18	147685	broad.mit.edu	37	chr19	58477896	58477896	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattacttagcagatacttActatatcatataggagattg	6	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58477896A>G	ENST00000314391.3	-	4	473		c.e4+1			NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18							integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GCAGATACTTACTATATCATA	0.338													False	0	True	19:58477896	0	G	58477896	A	G	58477896	5	3	88	1	0	0	0	0	0	0	1	0	1925	405	14	4	286	4	C19orf18	19	58477896	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7858	58477896	651087	19111	26823											
ZNF606	80095	broad.mit.edu	37	chr19	58490209	58490209	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatgaattatctcatgTttagtgagggctgagcgttc	11	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490209T>C	ENST00000341164.4	-	7	2459	c.1839A>G	c.(1837-1839)aaA>aaG	p.K613K	ZNF606_ENST00000536132.1_Silent_p.K523K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTATCTCATGTTTAGTGAGGG	0.423													False	0	True	19:58490209	0	C	58490209	T	C	58490209	2	2	88	1	0	0	0	0	0	0	0	1	18115	1722	60	4		4	ZNF606	19	58490209	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12313	58490209	638774	19112	26824											
ZNF606	80095	broad.mit.edu	37	chr19	58490360	58490360	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atttatatggttttgctccaGaatgagttctttcatgttta	7	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490360G>T	ENST00000341164.4	-	7	2308	c.1688C>A	c.(1687-1689)tCt>tAt	p.S563Y	ZNF606_ENST00000536132.1_Missense_Mutation_p.S473Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S563Y(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTTGCTCCAGAATGAGTTCT	0.398													False	0	False	19:58490360	0	T	58490360	G	T	58490360	3	4	88	1	0	0	0	0	1	0	0	0	18115	942	33	3	694	3	ZNF606	19	58490360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151	58490360	638623	19113	26825											
ZNF606	80095	broad.mit.edu	37	chr19	58490962	58490962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctacagtaccaattttttgAtgttccataaaggatgagaa	7	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490962A>G	ENST00000341164.4	-	7	1706	c.1086T>C	c.(1084-1086)caT>caC	p.H362H	ZNF606_ENST00000536132.1_Silent_p.H272H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CAATTTTTTGATGTTCCATAA	0.343													False	0	False	19:58490962	0	G	58490962	A	G	58490962	2	3	88	1	0	0	0	0	0	0	0	1	18115	330	12	4		4	ZNF606	19	58490962	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	602	58490962	638021	19114	26826											
ZNF606	80095	broad.mit.edu	37	chr19	58500015	58500015	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcacatcacggtacagggtCctctgaacaaggtccagctg	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58500015C>T	ENST00000341164.4	-	5	872	c.252G>A	c.(250-252)agG>agA	p.R84R	ZNF606_ENST00000536132.1_5'UTR	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GGTACAGGGTCCTCTGAACAA	0.537													False	0	False	19:58500015	0	T	58500015	C	T	58500015	2	4	88	1	0	0	0	0	0	0	0	1	18115	854	30	2		2	ZNF606	19	58500015	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9053	58500015	628968	19115	26827											
ZSCAN1	284312	broad.mit.edu	37	chr19	58551856	58551856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtcgaaccccaggactggAgtttcggtgaggaggaagat	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58551856A>G	ENST00000282326.1	+	4	656	c.409A>G	c.(409-411)Agt>Ggt	p.S137G		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	137					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCAGGACTGGAGTTTCGGTGA	0.617													False	0	False	19:58551856	0	G	58551856	A	G	58551856	3	3	88	1	0	0	0	0	1	0	0	0	18308	304	11	4	415	4	ZSCAN1	19	58551856	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51841	58551856	577127	19116	26828											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565026	58565026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaagaggctgttgcaggCatctcggtagtgccgcgtgg	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58565026C>T	ENST00000282326.1	+	6	1081	c.834C>T	c.(832-834)ggC>ggT	p.G278G		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	278					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGTTGCAGGCATCTCGGTAG	0.622													False	0	False	19:58565026	0	T	58565026	C	T	58565026	2	4	88	1	0	0	0	0	0	0	0	1	18308	697	25	2		2	ZSCAN1	19	58565026	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13170	58565026	563957	19117	26829											
ZNF135	7694	broad.mit.edu	37	chr19	58578888	58578888	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacctcacccagcatctgCgaatccacactggggagaaa	8	15	2	1	rs144688815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58578888C>T	ENST00000506786.1	+	5	1464	c.910C>T	c.(910-912)Cga>Tga	p.R304*	ZNF135_ENST00000401053.4_Nonsense_Mutation_p.R370*|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.R358*|ZNF135_ENST00000359978.6_Nonsense_Mutation_p.R358*|ZNF135_ENST00000313434.5_Nonsense_Mutation_p.R346*|ZNF135_ENST00000439855.2_Nonsense_Mutation_p.R346*			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	358					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCAGCATCTGCGAATCCACAC	0.572													False	0	False	19:58578888	0	T	58578888	C	T	58578888	4	4	88	1	0	0	0	0	0	1	0	0	17808	760	27	1	1239	1	ZNF135	19	58578888	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13862	58578888	550095	19118	26830											
ZNF135	7694	broad.mit.edu	37	chr19	58579766	58579766	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagccatatgcatgcagggaCtgtggaaaggcctttaccca	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58579766C>A	ENST00000506786.1	+	5	2342	c.1788C>A	c.(1786-1788)gaC>gaA	p.D596E	ZNF135_ENST00000401053.4_Missense_Mutation_p.D662E|ZNF135_ENST00000511556.1_Missense_Mutation_p.D650E|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.D638E|ZNF135_ENST00000439855.2_Missense_Mutation_p.D638E			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	650					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CATGCAGGGACTGTGGAAAGG	0.537													False	0	False	19:58579766	0	A	58579766	C	A	58579766	3	1	88	1	0	0	0	0	1	0	0	0	17808	564	20	3	2117	3	ZNF135	19	58579766	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	878	58579766	549217	19119	26831											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596628	58596628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcctcagtggtgccCgacgggggatcggcaagggc	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58596628C>T	ENST00000240727.6	-	7	1356	c.957G>A	c.(955-957)tcG>tcA	p.S319S	ZSCAN18_ENST00000600404.1_Silent_p.S375S|ZSCAN18_ENST00000421612.2_Silent_p.S183S|ZSCAN18_ENST00000601144.1_Silent_p.S319S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	319					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAGTGGTGCCCGACGGGGGAT	0.741													False	0	True	19:58596628	0	T	58596628	C	T	58596628	2	4	88	1	0	0	0	0	0	0	0	1	18312	639	23	1		1	ZSCAN18	19	58596628	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16862	58596628	532355	19120	26832											
ZNF329	79673	broad.mit.edu	37	chr19	58639295	58639295	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctctttgatgtcgaacaaGggatgagctcttttggaaca	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58639295G>T	ENST00000598312.1	-	4	1809	c.1576C>A	c.(1576-1578)Ctt>Att	p.L526I	ZNF329_ENST00000358067.4_Missense_Mutation_p.L526I	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGTCGAACAAGGGATGAGCTC	0.512													False	0	True	19:58639295	0	T	58639295	G	T	58639295	3	4	88	1	0	0	0	0	1	0	0	0	17930	1000	35	3	53	3	ZNF329	19	58639295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42667	58639295	489688	19121	26833											
ZNF329	79673	broad.mit.edu	37	chr19	58639933	58639933	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcgttacatctatatggtTtttcccctgtatgagttctt	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58639933T>G	ENST00000598312.1	-	4	1171	c.938A>C	c.(937-939)aAa>aCa	p.K313T	ZNF329_ENST00000358067.4_Missense_Mutation_p.K313T	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TCTATATGGTTTTTCCCCTGT	0.438													False	0	True	19:58639933	0	G	58639933	T	G	58639933	3	3	88	1	0	0	0	0	1	0	0	0	17930	1841	64	4	691	4	ZNF329	19	58639933	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	638	58639933	489050	19122	26834											
ZNF329	79673	broad.mit.edu	37	chr19	58640736	58640736	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgattgcctcaagtgTccctcctggttctcacagtc	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58640736T>C	ENST00000598312.1	-	4	368	c.135A>G	c.(133-135)ggA>ggG	p.G45G	ZNF329_ENST00000358067.4_Silent_p.G45G	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GCCTCAAGTGTCCCTCCTGGT	0.473													False	0	True	19:58640736	0	C	58640736	T	C	58640736	2	2	88	1	0	0	0	0	0	0	0	1	17930	1654	58	4		4	ZNF329	19	58640736	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	803	58640736	488247	19123	26835											
ZNF274	10782	broad.mit.edu	37	chr19	58718468	58718468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagttcctaggtgcactGcctgtgaagctccggacatg	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58718468G>A	ENST00000326804.4	+	6	1095	c.636G>A	c.(634-636)ctG>ctA	p.L212L	ZNF274_ENST00000345813.3_Silent_p.L180L|ZNF274_ENST00000424679.2_Silent_p.L107L|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	213	SCAN box.			A -> T (in Ref. 2; AAG24390).	viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TAGGTGCACTGCCTGTGAAGC	0.602													False	0	False	19:58718468	0	A	58718468	G	A	58718468	2	1	88	1	0	0	0	0	0	0	0	1	17892	1319	46	2		2	ZNF274	19	58718468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77732	58718468	410515	19124	26836											
ZNF274	10782	broad.mit.edu	37	chr19	58723727	58723727	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtctgctcaggaaaaagacCttcctcagaagaagcacttt	8	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58723727C>A	ENST00000326804.4	+	9	1636	c.1177C>A	c.(1177-1179)Ctt>Att	p.L393I	ZNF274_ENST00000345813.3_Missense_Mutation_p.L361I|ZNF274_ENST00000424679.2_Missense_Mutation_p.L288I|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	394					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGAAAAAGACCTTCCTCAGAA	0.488													False	0	False	19:58723727	0	A	58723727	C	A	58723727	3	1	88	1	0	0	0	0	1	0	0	0	17892	681	24	3	1205	3	ZNF274	19	58723727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5259	58723727	405256	19125	26837											
ZNF544	27300	broad.mit.edu	37	chr19	58773074	58773074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatctttcagctgttgtaagCtcatacaccagagaacacac	6	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58773074C>A	ENST00000269829.4	+	7	1576	c.1102C>A	c.(1102-1104)Ctc>Atc	p.L368I	CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.L226I|ZNF544_ENST00000600220.1_Missense_Mutation_p.L340I|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.L368I|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.L340I|ZNF544_ENST00000415203.2_Missense_Mutation_p.L340I|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CTGTTGTAAGCTCATACACCA	0.438													False	0	False	19:58773074	0	A	58773074	C	A	58773074	3	1	88	1	0	0	0	0	1	0	0	0	18060	797	28	3	1116	3	ZNF544	19	58773074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49347	58773074	355909	19126	26838											
ZNF544	27300	broad.mit.edu	37	chr19	58773509	58773509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttgttgtacatcagaggAcacacactggagagaagccc	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58773509A>G	ENST00000269829.4	+	7	2011	c.1537A>G	c.(1537-1539)Aca>Gca	p.T513A	CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.T371A|ZNF544_ENST00000600220.1_Missense_Mutation_p.T485A|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.T513A|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.T485A|ZNF544_ENST00000415203.2_Missense_Mutation_p.T485A|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ACATCAGAGGACACACACTGG	0.438													False	0	True	19:58773509	0	G	58773509	A	G	58773509	3	3	88	1	0	0	0	0	1	0	0	0	18060	275	10	4	1551	4	ZNF544	19	58773509	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	435	58773509	355474	19127	26839											
ZSCAN22	342945	broad.mit.edu	37	chr19	58850414	58850414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctgactcaacaccagCgcatccacaccggggagaag	10	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58850414C>T	ENST00000329665.4	+	3	1345	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	400					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TCAACACCAGCGCATCCACAC	0.632													False	0	False	19:58850414	0	T	58850414	C	T	58850414	3	4	88	1	0	0	0	0	1	0	0	0	18316	768	27	1	1204	1	ZSCAN22	19	58850414	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76905	58850414	278569	19128	26840											
A1BG	1	broad.mit.edu	37	chr19	58864689	58864689	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgtcactgggccccaggtGacacctgcggagacagcccc	12	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58864689G>A	ENST00000263100.3	-	2	100	c.39C>T	c.(37-39)gtC>gtT	p.V13V	A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	13						extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GGCCCCAGGTGACACCTGCGG	0.677													False	0	False	19:58864689	0	A	58864689	G	A	58864689	2	1	88	1	0	0	0	0	0	0	0	1	1	1277	45	2		2	A1BG	19	58864689	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14275	58864689	264294	19129	26841											
A1BG	1	broad.mit.edu	37	chr19	58864788	58864788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccacagcaagagaaagaCcacgagcatggacatgatgg	11	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58864788C>T	ENST00000263100.3	-	1	77	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	6						extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AAGAGAAAGACCACGAGCATG	0.667													False	0	False	19:58864788	0	T	58864788	C	T	58864788	3	4	88	1	0	0	0	0	1	0	0	0	1	507	18	2	1503	2	A1BG	19	58864788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99	58864788	264195	19130	26842											
ZNF497	162968	broad.mit.edu	37	chr19	58867645	58867645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttaagagctccgacttgcGcacgaaggccttgctgcagt	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58867645G>A	ENST00000311044.3	-	3	1545	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	ZNF497_ENST00000425453.3_Missense_Mutation_p.R453C|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCCGACTTGCGCACGAAGGCC	0.682													False	0	False	19:58867645	0	A	58867645	G	A	58867645	3	1	88	1	0	0	0	0	1	0	0	0	18029	1087	38	1	143	1	ZNF497	19	58867645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2857	58867645	261338	19131	26843											
ZNF497	162968	broad.mit.edu	37	chr19	58868179	58868179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccgcagtcgggacaggCgtgtggccgtgcgcccgcgt	17	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58868179C>T	ENST00000311044.3	-	3	1011	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	ZNF497_ENST00000425453.3_Missense_Mutation_p.A275T|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCGGGACAGGCGTGTGGCCGT	0.736													False	0	False	19:58868179	0	T	58868179	C	T	58868179	3	4	88	1	0	0	0	0	1	0	0	0	18029	768	27	1	677	1	ZNF497	19	58868179	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534	58868179	260804	19132	26844											
ZNF132	7691	broad.mit.edu	37	chr19	58945235	58945235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatcaggctggagctgcGgctgaaggatttcctacatt	12	9	1	2	rs142712450		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58945235G>A	ENST00000254166.3	-	3	1976	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	526						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CTGGAGCTGCGGCTGAAGGAT	0.498													False	0	False	19:58945235	0	A	58945235	G	A	58945235	3	1	88	1	0	0	0	0	1	0	0	0	17805	1116	39	1	548	1	ZNF132	19	58945235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77056	58945235	183748	19133	26845											
ZNF132	7691	broad.mit.edu	37	chr19	58945596	58945596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatttaccacattgactGcactcataaggtcttacctg	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58945596G>A	ENST00000254166.3	-	3	1615	c.1215C>T	c.(1213-1215)tgC>tgT	p.C405C		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	405						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CACATTGACTGCACTCATAAG	0.468													False	0	False	19:58945596	0	A	58945596	G	A	58945596	2	1	88	1	0	0	0	0	0	0	0	1	17805	1311	46	2		2	ZNF132	19	58945596	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	361	58945596	183387	19134	26846											
ZNF324	25799	broad.mit.edu	37	chr19	58983274	58983274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgtgctgctcagccaccGgcgcattcacacgggcgaga	13	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58983274G>A	ENST00000536459.2	+	4	2124	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q	ZNF324_ENST00000535298.1_Missense_Mutation_p.R249Q|ZNF324_ENST00000196482.3_Missense_Mutation_p.R472Q			O75467	Z324A_HUMAN	zinc finger protein 324	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCAGCCACCGGCGCATTCAC	0.687													False	0	False	19:58983274	0	A	58983274	G	A	58983274	3	1	88	1	0	0	0	0	1	0	0	0	17927	1116	39	1	1425	1	ZNF324	19	58983274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37678	58983274	145709	19135	26847											
SLC27A5	10998	broad.mit.edu	37	chr19	59011712	59011712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacccccatacctagccCtacagggatgcagaagccct	7	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59011712C>A	ENST00000263093.2	-	6	1571	c.1462G>T	c.(1462-1464)Ggg>Tgg	p.G488W	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G404W	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	488					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATACCTAGCCCTACAGGGATG	0.612													False	0	True	19:59011712	0	A	59011712	C	A	59011712	3	1	88	1	0	0	0	0	1	0	0	0	14609	681	24	3	630	3	SLC27A5	19	59011712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28438	59011712	117271	19136	26848											
SLC27A5	10998	broad.mit.edu	37	chr19	59012709	59012709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatacaggatcactgtcaCgccatgctgccgacagtcat	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59012709C>T	ENST00000263093.2	-	4	1235	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	SLC27A5_ENST00000601355.1_Missense_Mutation_p.V292M	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	376					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATCACTGTCACGCCATGCTGC	0.557													False	0	False	19:59012709	0	T	59012709	C	T	59012709	3	4	88	1	0	0	0	0	1	0	0	0	14609	536	19	1	974	1	SLC27A5	19	59012709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	997	59012709	116274	19137	26849											
ZBTB45	84878	broad.mit.edu	37	chr19	59027844	59027844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcactcatacgtaggtggCtcagcacctggggtgcgagc	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59027844C>T	ENST00000594051.1	-	2	1677	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	ZBTB45_ENST00000354590.3_Silent_p.E399E|ZBTB45_ENST00000600990.1_Silent_p.E399E			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	399	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		ACGTAGGTGGCTCAGCACCTG	0.657													False	0	False	19:59027844	0	T	59027844	C	T	59027844	2	4	88	1	0	0	0	0	0	0	0	1	17629	796	28	2		2	ZBTB45	19	59027844	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15135	59027844	101139	19138	26850											
ZBTB45	84878	broad.mit.edu	37	chr19	59027866	59027866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacctggggtgcgagcaGgggtgcctgagggggccgtg	21	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59027866G>A	ENST00000594051.1	-	2	1655	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L	ZBTB45_ENST00000354590.3_Missense_Mutation_p.P392L|ZBTB45_ENST00000600990.1_Missense_Mutation_p.P392L			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	392	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GGTGCGAGCAGGGGTGCCTGA	0.642													False	0	True	19:59027866	0	A	59027866	G	A	59027866	3	1	88	1	0	0	0	0	1	0	0	0	17629	1000	35	2	368	2	ZBTB45	19	59027866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	59027866	101117	19139	26851											
ZBTB45	84878	broad.mit.edu	37	chr19	59028114	59028114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagacagtatgcagtcgggCtggacaggggtctcagtggg	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59028114C>A	ENST00000594051.1	-	2	1407	c.927G>T	c.(925-927)caG>caT	p.Q309H	ZBTB45_ENST00000354590.3_Missense_Mutation_p.Q309H|ZBTB45_ENST00000600990.1_Missense_Mutation_p.Q309H			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	309	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TGCAGTCGGGCTGGACAGGGG	0.637													False	0	True	19:59028114	0	A	59028114	C	A	59028114	3	1	88	1	0	0	0	0	1	0	0	0	17629	796	28	3	616	3	ZBTB45	19	59028114	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248	59028114	100869	19140	26852											
ZBTB45	84878	broad.mit.edu	37	chr19	59028774	59028774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccacaacgagcgaaccGctgtacaggaactctaccag	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59028774G>A	ENST00000594051.1	-	2	747	c.267C>T	c.(265-267)agC>agT	p.S89S	ZBTB45_ENST00000354590.3_Silent_p.S89S|ZBTB45_ENST00000600990.1_Silent_p.S89S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	89	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CGAGCGAACCGCTGTACAGGA	0.602											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:59028774	0	A	59028774	G	A	59028774	2	1	88	1	0	0	0	0	0	0	0	1	17629	1078	38	1		1	ZBTB45	19	59028774	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	660	59028774	100209	19141	26853											
CHMP2A	27243	broad.mit.edu	37	chr19	59063087	59063087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctagggctgaggctgcggCctctgcttttttcccaccag	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59063087C>T	ENST00000600118.1	-	5	1023	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CHMP2A_ENST00000601220.1_Missense_Mutation_p.A200T|CHMP2A_ENST00000312547.2_Missense_Mutation_p.A200T			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	200	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GAGGCTGCGGCCTCTGCTTTT	0.612													False	0	False	19:59063087	0	T	59063087	C	T	59063087	3	4	88	1	0	0	0	0	1	0	0	0	3377	739	26	2	74	2	CHMP2A	19	59063087	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34313	59063087	65896	19142	26854											
CHMP2A	27243	broad.mit.edu	37	chr19	59065517	59065517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcatggcacggttcagGgccctctggttctgccgcag	13	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59065517G>A	ENST00000600118.1	-	1	488	c.63C>T	c.(61-63)gcC>gcT	p.A21A	CHMP2A_ENST00000601220.1_Silent_p.A21A|CHMP2A_ENST00000312547.2_Silent_p.A21A			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	21					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CACGGTTCAGGGCCCTCTGGT	0.572													False	0	True	19:59065517	0	A	59065517	G	A	59065517	2	1	88	1	0	0	0	0	0	0	0	1	3377	1219	43	2		2	CHMP2A	19	59065517	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2430	59065517	63466	19143	26855											
MZF1	7593	broad.mit.edu	37	chr19	59073457	59073457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctactcggcgctgtggacGcgctggtgctgaatgagctt	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59073457G>A	ENST00000215057.2	-	6	2747	c.2187C>T	c.(2185-2187)cgC>cgT	p.R729R	AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000599369.1_Silent_p.R729R|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	729					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CGCTGTGGACGCGCTGGTGCT	0.617													False	0	False	19:59073457	0	A	59073457	G	A	59073457	2	1	88	1	0	0	0	0	0	0	0	1	10175	1074	38	1		1	MZF1	19	59073457	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7940	59073457	55526	19144	26856											
MZF1	7593	broad.mit.edu	37	chr19	59082669	59082669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccataaggcagcctcaccctCctcctcagagtcctctagct	6	18	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59082669C>T	ENST00000215057.2	-	2	648	c.88G>A	c.(88-90)Gag>Aag	p.E30K	MZF1_ENST00000594108.1_Missense_Mutation_p.E30K|MZF1_ENST00000594234.1_Missense_Mutation_p.E30K|MZF1_ENST00000599369.1_Missense_Mutation_p.E30K|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	30					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCCTCACCCTCCTCCTCAGAG	0.652													False	0	True	19:59082669	0	T	59082669	C	T	59082669	3	4	88	1	0	0	0	0	1	0	0	0	10175	864	30	2	2136	2	MZF1	19	59082669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9212	59082669	46314	19145	26857											
DEFB128	245939	broad.mit.edu	37	chr20	168663	168663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattagcacaacataatttcCcacttagacatcctatttca	2	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:168663C>T	ENST00000334391.4	-	2	203	c.146G>A	c.(145-147)gGg>gAg	p.G49E		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	49					defense response to bacterium	extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ACATAATTTCCCACTTAGACA	0.388													False	0	True	20:168663	0	T	168663	C	T	168663	3	4	88	1	0	0	0	0	1	0	0	0	4443	623	22	2	139	2	DEFB128	20	168663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		168663	62856857	19146	26858											
C20orf96	140680	broad.mit.edu	37	chr20	259966	259966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggccctcccgctcctgagCgaggtctgcgggcggaggga	18	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:259966C>T	ENST00000360321.2	-	5	450	c.312G>A	c.(310-312)tcG>tcA	p.S104S	C20orf96_ENST00000382369.5_Silent_p.S69S|C20orf96_ENST00000400269.3_Silent_p.S46S	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	104										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CGCTCCTGAGCGAGGTCTGCG	0.706													False	0	False	20:259966	0	T	259966	C	T	259966	2	4	88	1	0	0	0	0	0	0	0	1	2138	755	27	1		1	C20orf96	20	259966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91303	259966	62765554	19147	26859											
C20orf96	140680	broad.mit.edu	37	chr20	264666	264666	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttccgccttctatgtagttCtcttggattcttcggctggc	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:264666C>A	ENST00000360321.2	-	4	382	c.244G>T	c.(244-246)Gaa>Taa	p.E82*	C20orf96_ENST00000382369.5_Nonsense_Mutation_p.E47*|C20orf96_ENST00000400269.3_Nonsense_Mutation_p.E24*	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	82										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTATGTAGTTCTCTTGGATTC	0.537													False	0	False	20:264666	0	A	264666	C	A	264666	4	1	88	1	0	0	0	0	0	1	0	0	2138	922	32	3	879	3	C20orf96	20	264666	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4700	264666	62760854	19148	26860											
ZCCHC3	85364	broad.mit.edu	37	chr20	279106	279106	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgaccgacaggtttgggatCtggaccggggagtacaaatg	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:279106C>A	ENST00000382352.3	+	1	1370	c.879C>A	c.(877-879)atC>atA	p.I293I		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	293							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGTTTGGGATCTGGACCGGGG	0.647													False	0	False	20:279106	0	A	279106	C	A	279106	2	1	88	1	0	0	0	0	0	0	0	1	17672	903	32	3		3	ZCCHC3	20	279106	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14440	279106	62746414	19149	26861											
TRIB3	57761	broad.mit.edu	37	chr20	372084	372084	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacatgcacagcctggtgCgaagccgccaccgtatccct	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:372084C>T	ENST00000217233.3	+	3	998	c.445C>T	c.(445-447)Cga>Tga	p.R149*	TRIB3_ENST00000422053.2_Nonsense_Mutation_p.R176*	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	149	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CAGCCTGGTGCGAAGCCGCCA	0.657													False	0	False	20:372084	0	T	372084	C	T	372084	4	4	88	1	0	0	0	0	0	1	0	0	16567	760	27	1	451	1	TRIB3	20	372084	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92978	372084	62653436	19150	26862											
RBCK1	10616	broad.mit.edu	37	chr20	390527	390527	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctgtactggctttcagcaGaggaaatggccctgagcctc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:390527G>T	ENST00000356286.5	+	2	730	c.25G>T	c.(25-27)Gag>Tag	p.E9*	RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000475269.1_Nonsense_Mutation_p.E9*|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000400247.3_Intron	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	9	Interaction with IRF3.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GCTTTCAGCAGAGGAAATGGC	0.577													False	0	False	20:390527	0	T	390527	G	T	390527	4	4	88	1	0	0	0	0	0	1	0	0	13186	943	33	3	50	3	RBCK1	20	390527	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18443	390527	62634993	19151	26863											
RBCK1	10616	broad.mit.edu	37	chr20	400247	400247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatcaacaagcccacgCggcctggctgtgagatgtgc	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:400247C>T	ENST00000356286.5	+	6	1333	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	RBCK1_ENST00000353660.3_Missense_Mutation_p.R168W|RBCK1_ENST00000382181.2_Silent_p.R93R	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	210	Interaction with IRF3.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CAAGCCCACGCGGCCTGGCTG	0.721													False	0	False	20:400247	0	T	400247	C	T	400247	3	4	88	1	0	0	0	0	1	0	0	0	13186	759	27	1	669	1	RBCK1	20	400247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9720	400247	62625273	19152	26864											
RBCK1	10616	broad.mit.edu	37	chr20	409726	409726	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcaccaagggcccacgCtggggccctggggtgagtct	17	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:409726C>T	ENST00000356286.5	+	11	2145	c.1440C>T	c.(1438-1440)cgC>cgT	p.R480R	RBCK1_ENST00000353660.3_Silent_p.R438R|RBCK1_ENST00000382181.2_Silent_p.R310R	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	480					interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGGGCCCACGCTGGGGCCCTG	0.637													False	0	False	20:409726	0	T	409726	C	T	409726	2	4	88	1	0	0	0	0	0	0	0	1	13186	784	28	2		2	RBCK1	20	409726	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9479	409726	62615794	19153	26865											
CSNK2A1	1457	broad.mit.edu	37	chr20	478425	478425	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttaacgtctggtacaattgCtgttaaagacaaatgtttga	9	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:478425C>A	ENST00000217244.3	-	7	742		c.e7-1		CSNK2A1_ENST00000349736.5_Splice_Site|CSNK2A1_ENST00000400227.3_Splice_Site|CSNK2A1_ENST00000400217.2_Splice_Site	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide						axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GGTACAATTGCTGTTAAAGAC	0.343													False	0	False	20:478425	0	A	478425	C	A	478425	5	1	88	1	0	0	0	0	0	0	1	0	3982	811	28	3	841	3	CSNK2A1	20	478425	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68699	478425	62547095	19154	26866											
SCRT2	85508	broad.mit.edu	37	chr20	644759	644759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtggcgtaggtcttgccGcactcggcgcacgcgtgccg	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:644759G>A	ENST00000246104.6	-	2	1057	c.480C>T	c.(478-480)tgC>tgT	p.C160C	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						AGGTCTTGCCGCACTCGGCGC	0.791													False	0	False	20:644759	0	A	644759	G	A	644759	2	1	88	1	0	0	0	0	0	0	0	1	14023	1079	38	1		1	SCRT2	20	644759	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166334	644759	62380761	19155	26867											
RSPO4	343637	broad.mit.edu	37	chr20	944697	944697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctctccaggccccaagccGagccgcaggtctttccattg	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:944697G>A	ENST00000217260.4	-	4	572	c.476C>T	c.(475-477)tCg>tTg	p.S159L	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	159	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCCCCAAGCCGAGCCGCAGGT	0.632													False	0	True	20:944697	0	A	944697	G	A	944697	3	1	88	1	0	0	0	0	1	0	0	0	13791	1059	37	1	236	1	RSPO4	20	944697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299938	944697	62080823	19156	26868											
PSMF1	9491	broad.mit.edu	37	chr20	1144966	1144966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttcttgcctcaggcctCggagaggtggcatgattgtg	13	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1144966C>T	ENST00000335877.6	+	6	786	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	PSMF1_ENST00000438768.2_Missense_Mutation_p.R142W|PSMF1_ENST00000333082.3_Missense_Mutation_p.R204W|PSMF1_ENST00000381898.4_Missense_Mutation_p.R116W|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000246015.4_Missense_Mutation_p.R204W	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	204	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCTCAGGCCTCGGAGAGGTGG	0.552													False	0	False	20:1144966	0	T	1144966	C	T	1144966	3	4	88	1	0	0	0	0	1	0	0	0	12786	875	31	1	632	1	PSMF1	20	1144966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200269	1144966	61880554	19157	26869											
SNPH	9751	broad.mit.edu	37	chr20	1286372	1286372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtggacccaccccacagCggcctggtgccaaccccaac	9	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1286372C>T	ENST00000381867.1	+	7	1933	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	SNPH_ENST00000381873.3_Missense_Mutation_p.R387W			O15079	SNPH_HUMAN	syntaphilin	387					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CACCCCACAGCGGCCTGGTGC	0.657													False	0	False	20:1286372	0	T	1286372	C	T	1286372	3	4	88	1	0	0	0	0	1	0	0	0	14930	759	27	1	1173	1	SNPH	20	1286372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141406	1286372	61739148	19158	26870											
FKBP1A	2280	broad.mit.edu	37	chr20	1352850	1352850	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caccataggcataatctggaGatatagtcagtttggctctc	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1352850G>T	ENST00000400137.4	-	4	396	c.233C>A	c.(232-234)tCt>tAt	p.S78Y	FKBP1A_ENST00000439640.2_Missense_Mutation_p.S62Y|SDCBP2-AS1_ENST00000609285.1_RNA|SDCBP2-AS1_ENST00000609470.1_RNA|FKBP1A_ENST00000381724.3_Missense_Mutation_p.S73Y|FKBP1A_ENST00000381719.3_Missense_Mutation_p.S78Y|SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000381715.1_Missense_Mutation_p.S73Y	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa	78	PPIase FKBP-type.				'de novo' protein folding|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|SMAD protein complex assembly|T cell activation|ventricular cardiac muscle tissue morphogenesis	axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna	activin binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|SMAD binding|type I transforming growth factor beta receptor binding			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	ATAATCTGGAGATATAGTCAG	0.488													False	0	False	20:1352850	0	T	1352850	G	T	1352850	3	4	88	1	0	0	0	0	1	0	0	0	5946	942	33	3	97	3	FKBP1A	20	1352850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66478	1352850	61672670	19159	26871											
NSFL1C	55968	broad.mit.edu	37	chr20	1426401	1426401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctgattcgtcgattaagAtggaagagctggctttggct	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1426401A>G	ENST00000216879.4	-	8	1727	c.860T>C	c.(859-861)aTc>aCc	p.I287T	NSFL1C_ENST00000353088.2_Missense_Mutation_p.I256T|NSFL1C_ENST00000381658.4_Missense_Mutation_p.I176T|NSFL1C_ENST00000350991.4_Missense_Mutation_p.I289T|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Missense_Mutation_p.I289T	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	287						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GTCGATTAAGATGGAAGAGCT	0.532													False	0	False	20:1426401	0	G	1426401	A	G	1426401	3	3	88	1	0	0	0	0	1	0	0	0	10740	333	12	4	260	4	NSFL1C	20	1426401	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73551	1426401	61599119	19160	26872											
NSFL1C	55968	broad.mit.edu	37	chr20	1433256	1433256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaccgtgagctagcctccGaagctctgctggcacctccc	9	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1433256G>A	ENST00000216879.4	-	7	1534	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	NSFL1C_ENST00000353088.2_Missense_Mutation_p.R192W|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R112W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R225W|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R225W	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	223	SEP.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCTAGCCTCCGAAGCTCTGCT	0.537													False	0	False	20:1433256	0	A	1433256	G	A	1433256	3	1	88	1	0	0	0	0	1	0	0	0	10740	1057	37	1	457	1	NSFL1C	20	1433256	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6855	1433256	61592264	19161	26873											
NSFL1C	55968	broad.mit.edu	37	chr20	1438856	1438856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagactcacctctggccttcCtcttcctcctcatcttcatc	3	18	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1438856C>T	ENST00000381658.4	-	2	1116	c.29G>A	c.(28-30)aGg>aAg	p.R10K	NSFL1C_ENST00000353088.2_Silent_p.E89E|NSFL1C_ENST00000350991.4_Silent_p.E89E|NSFL1C_ENST00000216879.4_Silent_p.E89E|NSFL1C_ENST00000476071.1_Silent_p.E89E			Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	0						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCTGGCCTTCCTCTTCCTCCT	0.483													False	0	True	20:1438856	0	T	1438856	C	T	1438856	3	4	88	1	0	0	0	0	1	0	0	0	10740	681	24	2	873	2	NSFL1C	20	1438856	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5600	1438856	61586664	19162	26874											
SIRPB2	284759	broad.mit.edu	37	chr20	1460374	1460374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcactgaggtgccttcatccGatttcatttctgagtgttca	9	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1460374G>A	ENST00000359801.3	-	2	458	c.422C>T	c.(421-423)tCg>tTg	p.S141L	SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	141	Ig-like V-type 1.					integral to membrane		p.S240L(1)|p.S141L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTTCATCCGATTTCATTTC	0.478													False	0	True	20:1460374	0	A	1460374	G	A	1460374	3	1	88	1	0	0	0	0	1	0	0	0	14415	1059	37	1	622	1	SIRPB2	20	1460374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21518	1460374	61565146	19163	26875											
SIRPB1	10326	broad.mit.edu	37	chr20	1552374	1552374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtcttctacctcggatgGcctcagacaagttggcagtc	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1552374G>A	ENST00000381605.4	-	3	807	c.743C>T	c.(742-744)gCc>gTc	p.A248V	SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ACCTCGGATGGCCTCAGACAA	0.612													False	0	False	20:1552374	0	A	1552374	G	A	1552374	3	1	88	1	0	0	0	0	1	0	0	0	14414	1203	42	2	465	2	SIRPB1	20	1552374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92000	1552374	61473146	19164	26876											
SIRPB1	10326	broad.mit.edu	37	chr20	1552659	1552659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccctcaccgcagggcccGataccacgggggcagagggt	16	14	1	1	rs150061145	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1552659G>A	ENST00000381605.4	-	3	522	c.458C>T	c.(457-459)tCg>tTg	p.S153L	SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	153	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CGCAGGGCCCGATACCACGGG	0.517													False	0	True	20:1552659	0	A	1552659	G	A	1552659	3	1	88	1	0	0	0	0	1	0	0	0	14414	1059	37	1	750	1	SIRPB1	20	1552659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	285	1552659	61472861	19165	26877											
SIRPB1	10326	broad.mit.edu	37	chr20	1559304	1559304	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactgatacggacttttcaGgctgaatcacctgtagctcg	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1559304G>T	ENST00000381605.4	-	2	177	c.113C>A	c.(112-114)cCt>cAt	p.P38H	SIRPB1_ENST00000262929.5_Missense_Mutation_p.P37H|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P38H|SIRPB1_ENST00000381603.3_Missense_Mutation_p.P38H	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	38	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGACTTTTCAGGCTGAATCAC	0.527													False	0	False	20:1559304	0	T	1559304	G	T	1559304	3	4	88	1	0	0	0	0	1	0	0	0	14414	1000	35	3	1099	3	SIRPB1	20	1559304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6645	1559304	61466216	19166	26878											
SIRPB1	10326	broad.mit.edu	37	chr20	1592006	1592006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacgctgtactcaccacGcacagacagctcggtgcctg	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1592006G>A	ENST00000279477.7	-	2	494	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	SIRPB1_ENST00000568365.1_Missense_Mutation_p.R144C|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTCACCACGCACAGACAGC	0.532													False	0	False	20:1592006	0	A	1592006	G	A	1592006	3	1	88	1	0	0	0	0	1	0	0	0	14414	1087	38	1	1919	1	SIRPB1	20	1592006	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32702	1592006	61433514	19167	26879											
SIRPB1	10326	broad.mit.edu	37	chr20	1592091	1592091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacacagtagtaggtgccGgcatctgctggggtgatgtt	14	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1592091G>A	ENST00000279477.7	-	2	409	c.345C>T	c.(343-345)gcC>gcT	p.A115A	SIRPB1_ENST00000568365.1_Silent_p.A115A|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	115	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTAGGTGCCGGCATCTGCTG	0.537													False	0	False	20:1592091	0	A	1592091	G	A	1592091	2	1	88	1	0	0	0	0	0	0	0	1	14414	1103	39	1		1	SIRPB1	20	1592091	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85	1592091	61433429	19168	26880											
SIRPG	55423	broad.mit.edu	37	chr20	1615981	1615981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaaggcgtttgctgaccGccagctgcccatcatgcttc	12	14	1	1	rs41275434	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1615981G>A	ENST00000381580.1	-	4	1093	c.914C>T	c.(913-915)gCg>gTg	p.A305V	SIRPG_ENST00000303415.3_Missense_Mutation_p.A338V|RP11-77C3.3_ENST00000456177.1_RNA|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000344103.4_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	338	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TTTGCTGACCGCCAGCTGCCC	0.507													False	0	False	20:1615981	0	A	1615981	G	A	1615981	3	1	88	1	0	0	0	0	1	0	0	0	14417	1087	38	1	158	1	SIRPG	20	1615981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23890	1615981	61409539	19169	26881											
SIRPG	55423	broad.mit.edu	37	chr20	1629742	1629742	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccagacttaaactccacgTtctcagggctcccttttcga	7	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1629742T>C	ENST00000381580.1	-	2	466	c.287A>G	c.(286-288)aAc>aGc	p.N96S	SIRPG_ENST00000303415.3_Missense_Mutation_p.N129S|SIRPG_ENST00000381583.2_Missense_Mutation_p.N129S|SIRPG_ENST00000216927.4_Missense_Mutation_p.N129S|SIRPG_ENST00000344103.4_Missense_Mutation_p.N129S			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	129	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AAACTCCACGTTCTCAGGGCT	0.483													False	0	False	20:1629742	0	C	1629742	T	C	1629742	3	2	88	1	0	0	0	0	1	0	0	0	14417	1725	60	4	793	4	SIRPG	20	1629742	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13761	1629742	61395778	19170	26882											
SIRPA	140885	broad.mit.edu	37	chr20	1896098	1896098	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcactgagctgtctgtgCgcggtgagtacagcgtgggc	17	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1896098C>A	ENST00000358771.4	+	2	585	c.433C>A	c.(433-435)Cgc>Agc	p.R145S	SIRPA_ENST00000400068.3_Missense_Mutation_p.R145S|SIRPA_ENST00000356025.3_Missense_Mutation_p.R145S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	145					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GCTGTCTGTGCGCGGTGAGTA	0.542													False	0	False	20:1896098	0	A	1896098	C	A	1896098	3	1	88	1	0	0	0	0	1	0	0	0	14413	768	27	3	439	3	SIRPA	20	1896098	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266356	1896098	61129422	19171	26883											
SIRPA	140885	broad.mit.edu	37	chr20	1903222	1903222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcatgacgggcagccaGcggtcagcaaaagccatgac	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1903222G>A	ENST00000358771.4	+	4	1170	c.1018G>A	c.(1018-1020)Gcg>Acg	p.A340T	SIRPA_ENST00000400068.3_Missense_Mutation_p.A340T|SIRPA_ENST00000356025.3_Missense_Mutation_p.A340T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	340	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CGGGCAGCCAGCGGTCAGCAA	0.577													False	0	True	20:1903222	0	A	1903222	G	A	1903222	3	1	88	1	0	0	0	0	1	0	0	0	14413	971	34	2	1032	2	SIRPA	20	1903222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7124	1903222	61122298	19172	26884											
PDYN	5173	broad.mit.edu	37	chr20	1961097	1961097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgagcttgggacgaatgcGccgcaagaagcccccatagc	12	13	0	2	rs150455107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1961097G>A	ENST00000217305.2	-	4	862	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	PDYN_ENST00000539905.1_Missense_Mutation_p.R213C|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R213C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	213					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.R213C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGACGAATGCGCCGCAAGAAG	0.597													False	0	False	20:1961097	0	A	1961097	G	A	1961097	3	1	88	1	0	0	0	0	1	0	0	0	11767	1087	38	1	131	1	PDYN	20	1961097	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57875	1961097	61064423	19173	26885											
PDYN	5173	broad.mit.edu	37	chr20	1961244	1961244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttggggtcctcctcagCgagatagagtgtgccagtct	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1961244C>T	ENST00000217305.2	-	4	715	c.490G>A	c.(490-492)Gct>Act	p.A164T	PDYN_ENST00000539905.1_Missense_Mutation_p.A164T|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.A164T	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	164					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.A164P(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCTCCTCAGCGAGATAGAGT	0.597													False	0	False	20:1961244	0	T	1961244	C	T	1961244	3	4	88	1	0	0	0	0	1	0	0	0	11767	768	27	1	278	1	PDYN	20	1961244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147	1961244	61064276	19174	26886											
STK35	140901	broad.mit.edu	37	chr20	2097346	2097346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttatgctgaggagccctgCtatctctggtttgtcatgga	13	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2097346C>T	ENST00000381482.3	+	3	1198	c.927C>T	c.(925-927)tgC>tgT	p.C309C	STK35_ENST00000246032.3_Silent_p.C176C|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	309	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						AGGAGCCCTGCTATCTCTGGT	0.473													False	0	False	20:2097346	0	T	2097346	C	T	2097346	2	4	88	1	0	0	0	0	0	0	0	1	15383	805	28	2		2	STK35	20	2097346	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136102	2097346	60928174	19175	26887											
TGM3	7053	broad.mit.edu	37	chr20	2298000	2298000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctgacttgcagcgctGcggtctttggggattccttc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2298000G>A	ENST00000381458.5	+	7	915	c.852G>A	c.(850-852)ctG>ctA	p.L284L	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	284					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTGCAGCGCTGCGGTCTTTGG	0.577													False	0	False	20:2298000	0	A	2298000	G	A	2298000	2	1	88	1	0	0	0	0	0	0	0	1	15913	1306	46	2		2	TGM3	20	2298000	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200654	2298000	60727520	19176	26888											
TGM3	7053	broad.mit.edu	37	chr20	2308989	2308989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgctcgcatggacgtcacGgacaagtacaagtacccaga	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2308989G>A	ENST00000381458.5	+	9	1374	c.1311G>A	c.(1309-1311)acG>acA	p.T437T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	437					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGGACGTCACGGACAAGTACA	0.567													False	0	False	20:2308989	0	A	2308989	G	A	2308989	2	1	88	1	0	0	0	0	0	0	0	1	15913	1103	39	1		1	TGM3	20	2308989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10989	2308989	60716531	19177	26889											
TGM6	343641	broad.mit.edu	37	chr20	2384147	2384147	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccccaggaggagagtgaagGtacgctcaattgggtggggt	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2384147G>T	ENST00000202625.2	+	8	1154		c.e8+1		TGM6_ENST00000381423.1_Splice_Site	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6						cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAGAGTGAAGGTACGCTCAAT	0.602													False	0	False	20:2384147	0	T	2384147	G	T	2384147	5	4	88	1	0	0	0	0	0	0	1	0	15916	1275	44	3	1124	3	TGM6	20	2384147	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75158	2384147	60641373	19178	26890											
TGM6	343641	broad.mit.edu	37	chr20	2398031	2398031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaagcccagcatcgctgGcaagttcaaggtgctagagc	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2398031G>A	ENST00000202625.2	+	10	1551	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	TGM6_ENST00000381423.1_Missense_Mutation_p.G497D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	497					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGCATCGCTGGCAAGTTCAAG	0.652													False	0	False	20:2398031	0	A	2398031	G	A	2398031	3	1	88	1	0	0	0	0	1	0	0	0	15916	1203	42	2	1528	2	TGM6	20	2398031	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13884	2398031	60627489	19179	26891											
ZNF343	79175	broad.mit.edu	37	chr20	2463857	2463857	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttatgactaaagcctcGcccacactccctacaaacat	4	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2463857G>A	ENST00000278772.4	-	6	2237	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R584*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTAAAGCCTCGCCCACACTCC	0.522													False	0	True	20:2463857	0	A	2463857	G	A	2463857	4	1	88	1	0	0	0	0	0	1	0	0	17941	1095	38	1	53	1	ZNF343	20	2463857	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65826	2463857	60561663	19180	26892											
TMC2	117532	broad.mit.edu	37	chr20	2552886	2552886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggggaaaggcaagcaaCtatatgcctacaagatgctg	12	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2552886C>T	ENST00000358864.1	+	5	631	c.616C>T	c.(616-618)Cta>Tta	p.L206L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	206	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGGCAAGCAACTATATGCCTA	0.498													False	0	True	20:2552886	0	T	2552886	C	T	2552886	2	4	88	1	0	0	0	0	0	0	0	1	16067	564	20	2		2	TMC2	20	2552886	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89029	2552886	60472634	19181	26893											
TMC2	117532	broad.mit.edu	37	chr20	2597782	2597782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcctgctgacctccatgTacttccagtgctgggcggtg	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2597782T>C	ENST00000358864.1	+	16	2020	c.2005T>C	c.(2005-2007)Tac>Cac	p.Y669H	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	669						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACCTCCATGTACTTCCAGTG	0.567													False	0	False	20:2597782	0	C	2597782	T	C	2597782	3	2	88	1	0	0	0	0	1	0	0	0	16067	1638	57	4	2067	4	TMC2	20	2597782	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44896	2597782	60427738	19182	26894											
TMC2	117532	broad.mit.edu	37	chr20	2604978	2604978	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaacgatttcccaaccttcCtgggcaagatctttgctttc	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2604978C>A	ENST00000358864.1	+	17	2257	c.2242C>A	c.(2242-2244)Ctg>Atg	p.L748M		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	748						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCCAACCTTCCTGGGCAAGAT	0.498													False	0	False	20:2604978	0	A	2604978	C	A	2604978	3	1	88	1	0	0	0	0	1	0	0	0	16067	680	24	3	2308	3	TMC2	20	2604978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7196	2604978	60420542	19183	26895											
NOP56	10528	broad.mit.edu	37	chr20	2636076	2636076	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccgaagggaactgaatgaGgacaagctggagaagctgga	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636076G>T	ENST00000329276.5	+	6	1191	c.675G>T	c.(673-675)gaG>gaT	p.E225D		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	225					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AACTGAATGAGGACAAGCTGG	0.542													False	0	False	20:2636076	0	T	2636076	G	T	2636076	3	4	88	1	0	0	0	0	1	0	0	0	10607	991	35	3	697	3	NOP56	20	2636076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31098	2636076	60389444	19184	26896											
NOP56	10528	broad.mit.edu	37	chr20	2636275	2636275	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccattgacttgataaacatCgagagcttctccagtcgtgt	9	10	1	3	rs147425088	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636275C>T	ENST00000329276.5	+	7	1308	c.792C>T	c.(790-792)atC>atT	p.I264I		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	264	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	p.I264I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TGATAAACATCGAGAGCTTCT	0.498													False	0	False	20:2636275	0	T	2636275	C	T	2636275	2	4	88	1	0	0	0	0	0	0	0	1	10607	874	31	1		1	NOP56	20	2636275	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199	2636275	60389245	19185	26897											
NOP56	10528	broad.mit.edu	37	chr20	2636638	2636638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacctggccaagtatccagCatccacagtgcagatccttg	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636638C>T	ENST00000329276.5	+	8	1484	c.968C>T	c.(967-969)gCa>gTa	p.A323V	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	323	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAGTATCCAGCATCCACAGTG	0.557													False	0	False	20:2636638	0	T	2636638	C	T	2636638	3	4	88	1	0	0	0	0	1	0	0	0	10607	710	25	2	998	2	NOP56	20	2636638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	363	2636638	60388882	19186	26898											
CPXM1	56265	broad.mit.edu	37	chr20	2777179	2777179	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccccatgccagtacccagctCatgctccccaggcttgtccg	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2777179C>T	ENST00000380605.2	-	8	1103	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	347					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTACCCAGCTCATGCTCCCCA	0.612													False	0	False	20:2777179	0	T	2777179	C	T	2777179	3	4	88	1	0	0	0	0	1	0	0	0	3860	835	29	2	1193	2	CPXM1	20	2777179	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140541	2777179	60248341	19187	26899											
GNRH2	2797	broad.mit.edu	37	chr20	3025459	3025459	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggtcccttcacaggaagCgacacctggcacggacactg	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3025459C>T	ENST00000380347.2	+	2	673	c.268C>T	c.(268-270)Cga>Tga	p.R90*	GNRH2_ENST00000380346.2_Nonsense_Mutation_p.R89*|GNRH2_ENST00000359987.1_Nonsense_Mutation_p.R89*|GNRH2_ENST00000359100.2_Nonsense_Mutation_p.R90*|GNRH2_ENST00000245983.2_Nonsense_Mutation_p.R97*			O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	97					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)|upper_aerodigestive_tract(1)	2						TCACAGGAAGCGACACCTGGC	0.637													False	0	False	20:3025459	0	T	3025459	C	T	3025459	4	4	88	1	0	0	0	0	0	1	0	0	6593	760	27	1	295	1	GNRH2	20	3025459	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248280	3025459	60000061	19188	26900											
DDRGK1	65992	broad.mit.edu	37	chr20	3175985	3175985	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctgctcctcgcgggccttCctctcctcctcctcctgtgg	9	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3175985C>T	ENST00000354488.3	-	5	582	c.525G>A	c.(523-525)agG>agA	p.R175R	DDRGK1_ENST00000380201.2_Silent_p.R175R	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	175						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CGCGGGCCTTCCTCTCCTCCT	0.607													False	0	True	20:3175985	0	T	3175985	C	T	3175985	2	4	88	1	0	0	0	0	0	0	0	1	4363	854	30	2		2	DDRGK1	20	3175985	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	150526	3175985	59849535	19189	26901											
SLC4A11	83959	broad.mit.edu	37	chr20	3209045	3209045	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcttcctctggggcaccctCcggatgtagtgtgtcggggg	15	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3209045C>A	ENST00000380059.3	-	19	2648	c.2547G>T	c.(2545-2547)cgG>cgT	p.R849R	SLC4A11_ENST00000380056.3_Silent_p.R822R|SLC4A11_ENST00000539553.2_Silent_p.R806R	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	822	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGGGCACCCTCCGGATGTAGT	0.657													False	0	False	20:3209045	0	A	3209045	C	A	3209045	2	1	88	1	0	0	0	0	0	0	0	1	14732	842	30	3		3	SLC4A11	20	3209045	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33060	3209045	59816475	19190	26902											
SLC4A11	83959	broad.mit.edu	37	chr20	3212030	3212030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgttccttcgttctcggCgccactggaccgtggctcac	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3212030C>T	ENST00000380059.3	-	8	1124	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	SLC4A11_ENST00000380056.3_Silent_p.A314A|SLC4A11_ENST00000539553.2_Silent_p.A298A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	314					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TCGTTCTCGGCGCCACTGGAC	0.657													False	0	False	20:3212030	0	T	3212030	C	T	3212030	2	4	88	1	0	0	0	0	0	0	0	1	14732	755	27	1		1	SLC4A11	20	3212030	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2985	3212030	59813490	19191	26903											
C20orf194	25943	broad.mit.edu	37	chr20	3245112	3245112	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacattaaatatcgagatcGtagcatctcaggacttgaaa	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3245112G>A	ENST00000252032.9	-	31	2912	c.2845C>T	c.(2845-2847)Cga>Tga	p.R949*	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	949										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TATCGAGATCGTAGCATCTCA	0.313													False	0	False	20:3245112	0	A	3245112	G	A	3245112	4	1	88	1	0	0	0	0	0	1	0	0	2115	1153	40	1	716	1	C20orf194	20	3245112	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33082	3245112	59780408	19192	26904											
C20orf194	25943	broad.mit.edu	37	chr20	3363127	3363127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctctgggtcaggatgCtctgaacctgccgaagtcga	13	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3363127C>T	ENST00000252032.9	-	2	177	c.110G>A	c.(109-111)aGc>aAc	p.S37N		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	37										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GGTCAGGATGCTCTGAACCTG	0.567													False	0	False	20:3363127	0	T	3363127	C	T	3363127	3	4	88	1	0	0	0	0	1	0	0	0	2115	797	28	2	3567	2	C20orf194	20	3363127	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118015	3363127	59662393	19193	26905											
ATRN	8455	broad.mit.edu	37	chr20	3564588	3564588	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cggacaccatgtgccttgagGacagcatgtggagattgcac	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3564588G>T	ENST00000262919.5	+	17	2876	c.2808G>T	c.(2806-2808)agG>agT	p.R936S	ATRN_ENST00000446916.2_Missense_Mutation_p.R936S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	936	PSI 3.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTGCCTTGAGGACAGCATGTG	0.547													False	0	False	20:3564588	0	T	3564588	G	T	3564588	3	4	88	1	0	0	0	0	1	0	0	0	1210	1165	41	3	2874	3	ATRN	20	3564588	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201461	3564588	59460932	19194	26906											
ADAM33	80332	broad.mit.edu	37	chr20	3660157	3660157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggctcctccaggctgacGgtgcgccagggttgtccatc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3660157G>A	ENST00000356518.2	-	2	400	c.159C>T	c.(157-159)acC>acT	p.T53T	ADAM33_ENST00000379861.4_Silent_p.T53T|ADAM33_ENST00000350009.2_Silent_p.T53T	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	53					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCAGGCTGACGGTGCGCCAGG	0.622													False	0	False	20:3660157	0	A	3660157	G	A	3660157	2	1	88	1	0	0	0	0	0	0	0	1	250	1103	39	1		1	ADAM33	20	3660157	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95569	3660157	59365363	19195	26907											
SIGLEC1	6614	broad.mit.edu	37	chr20	3669866	3669866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgctctgcttacaaacaCgcctccttctgcaaggcccg	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3669866C>T	ENST00000344754.4	-	20	5005	c.5006G>A	c.(5005-5007)cGt>cAt	p.R1669H	SIGLEC1_ENST00000202578.4_Intron	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1669					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.1670_1673del(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTTACAAACACGCCTCCTTCT	0.582													False	0	False	20:3669866	0	T	3669866	C	T	3669866	3	4	88	1	0	0	0	0	1	0	0	0	14386	536	19	1	131	1	SIGLEC1	20	3669866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9709	3669866	59355654	19196	26908											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673242	3673242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcaagagtaggcgcctGcatgagcccgcgtggccacc	14	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673242G>A	ENST00000344754.4	-	15	3955	c.3956C>T	c.(3955-3957)gCa>gTa	p.A1319V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1319V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1319	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTAGGCGCCTGCATGAGCCCG	0.657													False	0	False	20:3673242	0	A	3673242	G	A	3673242	3	1	88	1	0	0	0	0	1	0	0	0	14386	1319	46	2	1201	2	SIGLEC1	20	3673242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3376	3673242	59352278	19197	26909											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673398	3673398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggcacggcagcctccGgagccaggatcacccgcaca	11	17	2	0	rs150431597		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673398G>A	ENST00000344754.4	-	15	3799	c.3800C>T	c.(3799-3801)cCg>cTg	p.P1267L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1267L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1267	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGCCTCCGGAGCCAGGAT	0.657													False	0	False	20:3673398	0	A	3673398	G	A	3673398	3	1	88	1	0	0	0	0	1	0	0	0	14386	1116	39	1	1357	1	SIGLEC1	20	3673398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156	3673398	59352122	19198	26910											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673553	3673553	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttggcctggcccagagggCtgcgggcagagcagctgtag	18	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673553C>A	ENST00000344754.4	-	14	3733	c.3734G>T	c.(3733-3735)aGc>aTc	p.S1245I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1245I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1245	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCCCAGAGGGCTGCGGGCAGA	0.677													False	0	True	20:3673553	0	A	3673553	C	A	3673553	3	1	88	1	0	0	0	0	1	0	0	0	14386	797	28	3	1427	3	SIGLEC1	20	3673553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	3673553	59351967	19199	26911											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673586	3673586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgtagaaaccctcatccCtgggctgtggccctcgcagc	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673586C>A	ENST00000344754.4	-	14	3700	c.3701G>T	c.(3700-3702)aGg>aTg	p.R1234M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1234M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1234	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCCTCATCCCTGGGCTGTGG	0.697													False	0	True	20:3673586	0	A	3673586	C	A	3673586	3	1	88	1	0	0	0	0	1	0	0	0	14386	681	24	3	1460	3	SIGLEC1	20	3673586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	3673586	59351934	19200	26912											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673670	3673670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaggcgaccggcgtggCtgagggccagctgggcgggc	20	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673670C>A	ENST00000344754.4	-	14	3616	c.3617G>T	c.(3616-3618)aGc>aTc	p.S1206I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1206I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1206	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCGGCGTGGCTGAGGGCCAG	0.697													False	0	False	20:3673670	0	A	3673670	C	A	3673670	3	1	88	1	0	0	0	0	1	0	0	0	14386	797	28	3	1544	3	SIGLEC1	20	3673670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84	3673670	59351850	19201	26913											
SIGLEC1	6614	broad.mit.edu	37	chr20	3678683	3678683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcctggcgggggggtcGctgtccacacggcacaaaag	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3678683G>A	ENST00000344754.4	-	8	1883	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	SIGLEC1_ENST00000202578.4_Silent_p.S628S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	628	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGGGGGGGTCGCTGTCCACAC	0.677													False	0	False	20:3678683	0	A	3678683	G	A	3678683	2	1	88	1	0	0	0	0	0	0	0	1	14386	1078	38	1		1	SIGLEC1	20	3678683	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5013	3678683	59346837	19202	26914											
SIGLEC1	6614	broad.mit.edu	37	chr20	3679957	3679957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggccgcggggagcaggaGgctgctgccgggaccctcgt	20	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3679957G>T	ENST00000344754.4	-	7	1677	c.1678C>A	c.(1678-1680)Ctc>Atc	p.L560I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L560I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	560	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGGAGCAGGAGGCTGCTGCCG	0.672													False	0	False	20:3679957	0	T	3679957	G	T	3679957	3	4	88	1	0	0	0	0	1	0	0	0	14386	1000	35	3	3511	3	SIGLEC1	20	3679957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1274	3679957	59345563	19203	26915											
HSPA12B	116835	broad.mit.edu	37	chr20	3730865	3730865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgtggagaccgctctgcGcaggagcaggtgggtcctga	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3730865G>A	ENST00000254963.2	+	11	1437	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	HSPA12B_ENST00000542646.1_Missense_Mutation_p.R265H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	431							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						ACCGCTCTGCGCAGGAGCAGG	0.682													False	0	False	20:3730865	0	A	3730865	G	A	3730865	3	1	88	1	0	0	0	0	1	0	0	0	7454	1087	38	1	1330	1	HSPA12B	20	3730865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50908	3730865	59294655	19204	26916											
C20orf27	54976	broad.mit.edu	37	chr20	3735096	3735096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgccagtgccaccttcGcaggctagcagtatctcctc	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3735096G>A	ENST00000379772.3	-	5	1182	c.372C>T	c.(370-372)tgC>tgT	p.C124C	C20orf27_ENST00000217195.8_Silent_p.C149C	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	124										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						TGCCACCTTCGCAGGCTAGCA	0.607													False	0	False	20:3735096	0	A	3735096	G	A	3735096	2	1	88	1	0	0	0	0	0	0	0	1	2123	1079	38	1		1	C20orf27	20	3735096	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4231	3735096	59290424	19205	26917											
CENPB	1059	broad.mit.edu	37	chr20	3765499	3765499	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtaagccatggcctccccAaagctgggtacaggcacctc	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3765499A>G	ENST00000379751.4	-	1	1838	c.1632T>C	c.(1630-1632)ttT>ttC	p.F544F		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	544					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						TGGCCTCCCCAAAGCTGGGTA	0.527													False	0	True	20:3765499	0	G	3765499	A	G	3765499	2	3	88	1	0	0	0	0	0	0	0	1	3250	127	5	4		4	CENPB	20	3765499	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30403	3765499	59260021	19206	26918											
CENPB	1059	broad.mit.edu	37	chr20	3766779	3766779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccagccagccgttggaggCggtgaagtcgtccatgccca	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3766779C>T	ENST00000379751.4	-	1	558	c.352G>A	c.(352-354)Gcc>Acc	p.A118T		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	118	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCGTTGGAGGCGGTGAAGTCG	0.731													False	0	False	20:3766779	0	T	3766779	C	T	3766779	3	4	88	1	0	0	0	0	1	0	0	0	3250	768	27	1	1451	1	CENPB	20	3766779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1280	3766779	59258741	19207	26919											
CDC25B	994	broad.mit.edu	37	chr20	3785572	3785572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgggctggggagcggagCcggcgggagctctgtagccg	21	10	1	0	rs514521		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3785572C>T	ENST00000245960.5	+	16	2404	c.1707C>T	c.(1705-1707)agC>agT	p.S569S	CDC25B_ENST00000340833.4_Silent_p.S528S|CDC25B_ENST00000439880.2_Silent_p.S555S|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Silent_p.S478S|CDC25B_ENST00000344256.6_Silent_p.S505S	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	569					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GGGAGCGGAGCCGGCGGGAGC	0.647													False	0	True	20:3785572	0	T	3785572	C	T	3785572	2	4	88	1	0	0	0	0	0	0	0	1	3086	738	26	2		2	CDC25B	20	3785572	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18793	3785572	59239948	19208	26920											
MAVS	57506	broad.mit.edu	37	chr20	3841982	3841982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctttgtcctctagggaCctcggaccgtcccccagacc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3841982C>T	ENST00000428216.2	+	4	424	c.296C>T	c.(295-297)aCc>aTc	p.T99I	MAVS_ENST00000416600.2_5'UTR|MAVS_ENST00000358134.6_Intron	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	99					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTCTAGGGACCTCGGACCGT	0.607													False	0	False	20:3841982	0	T	3841982	C	T	3841982	3	4	88	1	0	0	0	0	1	0	0	0	9405	507	18	2	306	2	MAVS	20	3841982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56410	3841982	59183538	19209	26921											
MAVS	57506	broad.mit.edu	37	chr20	3842924	3842924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagcaagccctgcagacGctcagccccagagccatccc	9	18	2	3	rs150835407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3842924G>A	ENST00000358134.6	+	3	316	c.316G>A	c.(316-318)Gct>Act	p.A106T	MAVS_ENST00000416600.2_Silent_p.T22T|MAVS_ENST00000428216.2_Silent_p.T163T			Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	107	Pro-rich.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTGCAGACGCTCAGCCCCA	0.587													False	0	False	20:3842924	0	A	3842924	G	A	3842924	3	1	88	1	0	0	0	0	1	0	0	0	9405	1074	38	1	503	1	MAVS	20	3842924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	942	3842924	59182596	19210	26922											
PANK2	80025	broad.mit.edu	37	chr20	3869814	3869814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatcactctcttctgggCtacaccgccttctcttcctc	5	19	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3869814C>T	ENST00000316562.4	+	1	73	c.67C>T	c.(67-69)Cta>Tta	p.L23L	PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	23					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCTTCTGGGCTACACCGCCT	0.672													False	0	True	20:3869814	0	T	3869814	C	T	3869814	2	4	88	1	0	0	0	0	0	0	0	1	11485	796	28	2		2	PANK2	20	3869814	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26890	3869814	59155706	19211	26923											
RNF24	0	broad.mit.edu	37	chr20	3914846	3914846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagccacttaataaggCacctgcagaaggagacacca	8	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3914846C>T	ENST00000336095.6	-	6	562	c.311G>A	c.(310-312)tGc>tAc	p.C104Y	RNF24_ENST00000545616.2_Missense_Mutation_p.C125Y|RNF24_ENST00000358395.6_Missense_Mutation_p.C104Y|RNF24_ENST00000432261.2_Missense_Mutation_p.C125Y	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24							Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						CTTAATAAGGCACCTGCAGAA	0.542													False	0	False	20:3914846	0	T	3914846	C	T	3914846	3	4	88	1	0	0	0	0	1	0	0	0	13563	710	25	2	139	2	RNF24	20	3914846	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45032	3914846	59110674	19212	26924											
SMOX	54498	broad.mit.edu	37	chr20	4168011	4168011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccagcgtgaggctgcccGcctcattgagatgtaccgag	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4168011G>A	ENST00000305958.4	+	7	1850	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	SMOX_ENST00000346595.2_Missense_Mutation_p.R177H|SMOX_ENST00000339123.6_Missense_Mutation_p.R489H|SMOX_ENST00000379460.2_Missense_Mutation_p.R542H|SMOX_ENST00000278795.3_Missense_Mutation_p.R519H	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	542					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GAGGCTGCCCGCCTCATTGAG	0.632													False	0	True	20:4168011	0	A	4168011	G	A	4168011	3	1	88	1	0	0	0	0	1	0	0	0	14883	1087	38	1	1741	1	SMOX	20	4168011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253165	4168011	58857509	19213	26925											
PRNP	5621	broad.mit.edu	37	chr20	4680520	4680520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgtgtatcacccagtaCgagagggaatctcaggccta	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4680520C>T	ENST00000379440.4	+	2	941	c.654C>T	c.(652-654)taC>taT	p.Y218Y	PRNP_ENST00000430350.2_Silent_p.Y218Y	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	218	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TCACCCAGTACGAGAGGGAAT	0.532													False	0	False	20:4680520	0	T	4680520	C	T	4680520	2	4	88	1	0	0	0	0	0	0	0	1	12620	547	19	1		1	PRNP	20	4680520	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	512509	4680520	58345000	19214	26926											
PRND	23627	broad.mit.edu	37	chr20	4705663	4705663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagaggggcgcaggacttCgggtcaccatgcaccagcca	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4705663C>T	ENST00000305817.2	+	2	537	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	156					protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						CGCAGGACTTCGGGTCACCAT	0.597													False	0	True	20:4705663	0	T	4705663	C	T	4705663	3	4	88	1	0	0	0	0	1	0	0	0	12619	875	31	1	468	1	PRND	20	4705663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25143	4705663	58319857	19215	26927											
SLC23A2	9962	broad.mit.edu	37	chr20	4855240	4855240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggaacattttgaacagCtgtaacttgtacgcagtcca	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4855240C>T	ENST00000379333.1	-	10	1319	c.927G>A	c.(925-927)caG>caA	p.Q309Q	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Silent_p.Q195Q|SLC23A2_ENST00000338244.1_Silent_p.Q309Q	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	309					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTTTGAACAGCTGTAACTTGT	0.383													False	0	False	20:4855240	0	T	4855240	C	T	4855240	2	4	88	1	0	0	0	0	0	0	0	1	14543	796	28	2		2	SLC23A2	20	4855240	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149577	4855240	58170280	19216	26928											
GPCPD1	56261	broad.mit.edu	37	chr20	5539456	5539456	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcggatatttgttctgcttTtgccgaaccctgaaaagaaa	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5539456T>C	ENST00000379019.4	-	18	1754	c.1542A>G	c.(1540-1542)caA>caG	p.Q514Q	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	514	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TGTTCTGCTTTTGCCGAACCC	0.348													False	0	True	20:5539456	0	C	5539456	T	C	5539456	2	2	88	1	0	0	0	0	0	0	0	1	6649	1838	64	4		4	GPCPD1	20	5539456	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	684216	5539456	57486064	19217	26929											
C20orf196	149840	broad.mit.edu	37	chr20	5844104	5844104	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagaatgtaatgaaagacCtgtaactggtgccgggcagt	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5844104C>A	ENST00000303142.6	+	3	700	c.613C>A	c.(613-615)Ctg>Atg	p.L205M		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	205										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AATGAAAGACCTGTAACTGGT	0.512													False	0	False	20:5844104	0	A	5844104	C	A	5844104	3	1	88	1	0	0	0	0	1	0	0	0	2117	680	24	3	619	3	C20orf196	20	5844104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304648	5844104	57181416	19218	26930											
TRMT6	51605	broad.mit.edu	37	chr20	5927132	5927132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagttccataactatggCcaatgacgttatccaggtag	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5927132C>T	ENST00000203001.2	-	2	306	c.176G>A	c.(175-177)gGc>gAc	p.G59D	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	59					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	p.G59V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATAACTATGGCCAATGACGTT	0.408													False	0	False	20:5927132	0	T	5927132	C	T	5927132	3	4	88	1	0	0	0	0	1	0	0	0	16651	739	26	2	1357	2	TRMT6	20	5927132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83028	5927132	57098388	19219	26931											
MCM8	84515	broad.mit.edu	37	chr20	5933149	5933149	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcgattcataccatataaAggctggaagctttatttctc	7	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5933149A>C	ENST00000378896.3	+	3	605	c.228A>C	c.(226-228)aaA>aaC	p.K76N	MCM8_ENST00000378886.2_Missense_Mutation_p.K76N|MCM8_ENST00000265187.4_Missense_Mutation_p.K76N|MCM8_ENST00000378883.1_Missense_Mutation_p.K76N	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	76					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TACCATATAAAGGCTGGAAGC	0.338													False	0	True	20:5933149	0	C	5933149	A	C	5933149	3	2	88	1	0	0	0	0	1	0	0	0	9460	69	3	4	234	4	MCM8	20	5933149	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6017	5933149	57092371	19220	26932											
MCM8	84515	broad.mit.edu	37	chr20	5974312	5974312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatttcaatttcatcaacttCggcagattgccaaagaacta	5	9	3	2	rs147649536		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5974312C>T	ENST00000378896.3	+	18	2778	c.2401C>T	c.(2401-2403)Cgg>Tgg	p.R801W	MCM8_ENST00000378886.2_Missense_Mutation_p.R841W|MCM8_ENST00000265187.4_Missense_Mutation_p.R785W|MCM8_ENST00000378883.1_Missense_Mutation_p.R754W	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	801					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TCATCAACTTCGGCAGATTGC	0.318													False	0	False	20:5974312	0	T	5974312	C	T	5974312	3	4	88	1	0	0	0	0	1	0	0	0	9460	875	31	1	2467	1	MCM8	20	5974312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41163	5974312	57051208	19221	26933											
LRRN4	164312	broad.mit.edu	37	chr20	6022053	6022053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagccctccgcagagtagCggatctggtacccatgcact	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6022053C>T	ENST00000378858.4	-	5	2062	c.1838G>A	c.(1837-1839)cGc>cAc	p.R613H		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	613	Fibronectin type-III.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CGCAGAGTAGCGGATCTGGTA	0.701													False	0	False	20:6022053	0	T	6022053	C	T	6022053	3	4	88	1	0	0	0	0	1	0	0	0	9099	768	27	1	388	1	LRRN4	20	6022053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47741	6022053	57003467	19222	26934											
LRRN4	164312	broad.mit.edu	37	chr20	6022592	6022592	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacctgctacagagttggtCgtggagggggcagtcccctc	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6022592C>T	ENST00000378858.4	-	5	1523	c.1299G>A	c.(1297-1299)acG>acA	p.T433T		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	433						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CAGAGTTGGTCGTGGAGGGGG	0.647													False	0	False	20:6022592	0	T	6022592	C	T	6022592	2	4	88	1	0	0	0	0	0	0	0	1	9099	871	31	1		1	LRRN4	20	6022592	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	539	6022592	57002928	19223	26935											
LRRN4	164312	broad.mit.edu	37	chr20	6031566	6031566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctccagggtcgtcagcCgaggcatcttcctcaggtag	11	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6031566C>T	ENST00000378858.4	-	3	943	c.719G>A	c.(718-720)cGg>cAg	p.R240Q		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	240						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGTCGTCAGCCGAGGCATCTT	0.557													False	0	False	20:6031566	0	T	6031566	C	T	6031566	3	4	88	1	0	0	0	0	1	0	0	0	9099	652	23	1	1515	1	LRRN4	20	6031566	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8974	6031566	56993954	19224	26936											
FERMT1	55612	broad.mit.edu	37	chr20	6077578	6077578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgcttttccaccttctaGggttacttccaaattagaaa	6	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6077578G>A	ENST00000217289.4	-	8	1848	c.1060C>T	c.(1060-1062)Cta>Tta	p.L354L	FERMT1_ENST00000536936.1_Silent_p.L97L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	354	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCACCTTCTAGGGTTACTTCC	0.423													False	0	True	20:6077578	0	A	6077578	G	A	6077578	2	1	88	1	0	0	0	0	0	0	0	1	5857	991	35	2		2	FERMT1	20	6077578	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46012	6077578	56947942	19225	26937											
FERMT1	55612	broad.mit.edu	37	chr20	6091159	6091159	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtataaaccaggacttaCtgcaaggcagggggatcaag	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6091159C>A	ENST00000217289.4	-	5	1321		c.e5-1		FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1						cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCAGGACTTACTGCAAGGCAG	0.383													False	0	False	20:6091159	0	A	6091159	C	A	6091159	5	1	88	1	0	0	0	0	0	0	1	0	5857	579	20	3	1545	3	FERMT1	20	6091159	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13581	6091159	56934361	19226	26938											
HAO1	54363	broad.mit.edu	37	chr20	7886939	7886939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctccaaaattttcctcagGagaaaatgataaagtactgg	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7886939G>A	ENST00000378789.3	-	4	634	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	195	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTTTCCTCAGGAGAAAATGAT	0.348													False	0	False	20:7886939	0	A	7886939	G	A	7886939	3	1	88	1	0	0	0	0	1	0	0	0	6998	1174	41	2	549	2	HAO1	20	7886939	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1795780	7886939	55138581	19227	26939											
TMX4	56255	broad.mit.edu	37	chr20	7962940	7962940	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacttttacgctgcctcaaGgagtcttccaccacctctgt	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7962940G>T	ENST00000246024.2	-	8	1223	c.1008C>A	c.(1006-1008)tcC>tcA	p.S336S		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	336					cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GCTGCCTCAAGGAGTCTTCCA	0.512													False	0	False	20:7962940	0	T	7962940	G	T	7962940	2	4	88	1	0	0	0	0	0	0	0	1	16351	987	35	3		3	TMX4	20	7962940	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76001	7962940	55062580	19228	26940											
TMX4	56255	broad.mit.edu	37	chr20	7963119	7963119	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcctcctcctcttcttcctCtgcttcatcctcatcgccaa	3	19	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7963119C>T	ENST00000246024.2	-	8	1044	c.829G>A	c.(829-831)Gag>Aag	p.E277K		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	277	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						tcttcttcctctgcttcatcc	0.502													False	0	False	20:7963119	0	T	7963119	C	T	7963119	3	4	88	1	0	0	0	0	1	0	0	0	16351	922	32	2	224	2	TMX4	20	7963119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	7963119	55062401	19229	26941											
TMX4	56255	broad.mit.edu	37	chr20	7963222	7963222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttttcctcctccgcatcCtgcaactgttcagctctatg	5	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7963222C>A	ENST00000246024.2	-	8	941	c.726G>T	c.(724-726)caG>caT	p.Q242H		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	242	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						cctcCGCATCCTGCAACTGTT	0.418													False	0	False	20:7963222	0	A	7963222	C	A	7963222	3	1	88	1	0	0	0	0	1	0	0	0	16351	680	24	3	327	3	TMX4	20	7963222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103	7963222	55062298	19230	26942											
PLCB1	23236	broad.mit.edu	37	chr20	8113379	8113379	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctcaagaagggcaccaaAttcgtcaagtgggatgatgt	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:8113379A>C	ENST00000378641.3	+	1	556	c.81A>C	c.(79-81)aaA>aaC	p.K27N	PLCB1_ENST00000378637.2_Missense_Mutation_p.K27N|PLCB1_ENST00000338037.6_Missense_Mutation_p.K27N	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	27				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).	activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGGGCACCAAATTCGTCAAGT	0.682													False	0	True	20:8113379	0	C	8113379	A	C	8113379	3	2	88	1	0	0	0	0	1	0	0	0	12096	98	4	4	83	4	PLCB1	20	8113379	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150157	8113379	54912141	19231	26943											
PLCB4	5332	broad.mit.edu	37	chr20	9389787	9389787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcctcagattttctggaAcgctggctgccagatggttt	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9389787A>G	ENST00000378501.2	+	20	1937	c.1922A>G	c.(1921-1923)aAc>aGc	p.N641S	PLCB4_ENST00000334005.3_Missense_Mutation_p.N641S|PLCB4_ENST00000414679.2_Missense_Mutation_p.N653S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.N641S|PLCB4_ENST00000378473.3_Missense_Mutation_p.N653S|PLCB4_ENST00000278655.4_Missense_Mutation_p.N641S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	641	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTTTCTGGAACGCTGGCTGC	0.468													False	0	False	20:9389787	0	G	9389787	A	G	9389787	3	3	88	1	0	0	0	0	1	0	0	0	12099	43	2	4	2040	4	PLCB4	20	9389787	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1276408	9389787	53635733	19232	26944											
PLCB4	5332	broad.mit.edu	37	chr20	9404500	9404500	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggcctccaagccggatatCgacacatttcccttcgaaat	7	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9404500C>T	ENST00000378501.2	+	24	2404	c.2389C>T	c.(2389-2391)Cga>Tga	p.R797*	PLCB4_ENST00000334005.3_Nonsense_Mutation_p.R797*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.R809*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.R797*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.R809*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.R797*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	797					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGCCGGATATCGACACATTTC	0.448													False	0	False	20:9404500	0	T	9404500	C	T	9404500	4	4	88	1	0	0	0	0	0	1	0	0	12099	876	31	1	2523	1	PLCB4	20	9404500	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14713	9404500	53621020	19233	26945											
PAK7	57144	broad.mit.edu	37	chr20	9538310	9538310	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttatgtccctgtgaatcactCcttggttatgaaggtaggag	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9538310C>A	ENST00000378429.3	-	8	2234	c.1688G>T	c.(1687-1689)gGa>gTa	p.G563V	PAK7_ENST00000353224.5_Missense_Mutation_p.G563V|PAK7_ENST00000378423.1_Missense_Mutation_p.G563V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	563	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTGAATCACTCCTTGGTTATG	0.438													False	0	False	20:9538310	0	A	9538310	C	A	9538310	3	1	88	1	0	0	0	0	1	0	0	0	11473	855	30	3	487	3	PAK7	20	9538310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133810	9538310	53487210	19234	26946											
PAK7	57144	broad.mit.edu	37	chr20	9546846	9546846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagccgtggagatgtactgCgaactgctctgcagggaggg	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9546846C>T	ENST00000378429.3	-	6	1722	c.1176G>A	c.(1174-1176)tcG>tcA	p.S392S	PAK7_ENST00000353224.5_Silent_p.S392S|PAK7_ENST00000378423.1_Silent_p.S392S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	392	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.S392S(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGATGTACTGCGAACTGCTCT	0.597													False	0	False	20:9546846	0	T	9546846	C	T	9546846	2	4	88	1	0	0	0	0	0	0	0	1	11473	755	27	1		1	PAK7	20	9546846	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8536	9546846	53478674	19235	26947											
JAG1	182	broad.mit.edu	37	chr20	10620604	10620604	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagcaagggaacaaggaaatCtgtaaggcaggcacaaaacc	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10620604C>A	ENST00000254958.5	-	26	3715		c.e26-1		JAG1_ENST00000423891.2_Splice_Site	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1						angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACAAGGAAATCTGTAAGGCAG	0.488									Alagille Syndrome				False	0	False	20:10620604	0	A	10620604	C	A	10620604	5	1	88	1	0	0	0	0	0	0	1	0	7984	927	32	3	461	3	JAG1	20	10620604	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1073758	10620604	52404916	19236	26948											
JAG1	182	broad.mit.edu	37	chr20	10621489	10621489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaacggcagcaatcagCgagctgtttccatcacgttt	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10621489C>T	ENST00000254958.5	-	25	3656	c.3141G>A	c.(3139-3141)tcG>tcA	p.S1047S	JAG1_ENST00000423891.2_Silent_p.S888S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1047					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGCAATCAGCGAGCTGTTTC	0.448									Alagille Syndrome				False	0	False	20:10621489	0	T	10621489	C	T	10621489	2	4	88	1	0	0	0	0	0	0	0	1	7984	755	27	1		1	JAG1	20	10621489	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	885	10621489	52404031	19237	26949											
SPTLC3	55304	broad.mit.edu	37	chr20	13140662	13140662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttaagggcttttgcaagGcatatgctagagaaaaaaat	9	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13140662G>A	ENST00000399002.2	+	11	1702	c.1428G>A	c.(1426-1428)agG>agA	p.R476R	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	476					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CTTTTGCAAGGCATATGCTAG	0.423													False	0	False	20:13140662	0	A	13140662	G	A	13140662	2	1	88	1	0	0	0	0	0	0	0	1	15207	1194	42	2		2	SPTLC3	20	13140662	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2519173	13140662	49884858	19238	26950											
SPTLC3	55304	broad.mit.edu	37	chr20	13140767	13140767	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagcggcacatacccgggaGatgttagacacggtgagtac	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13140767G>T	ENST00000399002.2	+	11	1807	c.1533G>T	c.(1531-1533)gaG>gaT	p.E511D	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	511					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATACCCGGGAGATGTTAGACA	0.522													False	0	False	20:13140767	0	T	13140767	G	T	13140767	3	4	88	1	0	0	0	0	1	0	0	0	15207	933	33	3	1575	3	SPTLC3	20	13140767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105	13140767	49884753	19239	26951											
ISM1	140862	broad.mit.edu	37	chr20	13279702	13279702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctaccccactgaggtgGcctacagcacggccgacatc	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13279702G>A	ENST00000262487.4	+	6	997	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor		AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CACTGAGGTGGCCTACAGCAC	0.582													False	0	False	20:13279702	0	A	13279702	G	A	13279702	3	1	88	1	0	0	0	0	1	0	0	0	7910	1203	42	2	1013	2	ISM1	20	13279702	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138935	13279702	49745818	19240	26952											
TASP1	55617	broad.mit.edu	37	chr20	13561576	13561576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagccgagagcttgccCttctgcccttcacataagag	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13561576C>A	ENST00000337743.4	-	6	576	c.456G>T	c.(454-456)aaG>aaT	p.K152N	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	152					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGAGCTTGCCCTTCTGCCCTT	0.423													False	0	True	20:13561576	0	A	13561576	C	A	13561576	3	1	88	1	0	0	0	0	1	0	0	0	15671	680	24	3	842	3	TASP1	20	13561576	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	281874	13561576	49463944	19241	26953											
ESF1	51575	broad.mit.edu	37	chr20	13695780	13695780	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgaacaagtgggaagtgTacattgcctgaaaccgtgca	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13695780T>G	ENST00000202816.1	-	14	2404	c.2297A>C	c.(2296-2298)tAc>tCc	p.Y766S		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	766	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTGGGAAGTGTACATTGCCTG	0.363													False	0	False	20:13695780	0	G	13695780	T	G	13695780	3	3	88	1	0	0	0	0	1	0	0	0	5283	1638	57	4	262	4	ESF1	20	13695780	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	134204	13695780	49329740	19242	26954											
ESF1	51575	broad.mit.edu	37	chr20	13698151	13698151	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcatccatcataagcaaaGccatttcagcctgtagagag	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13698151G>T	ENST00000202816.1	-	13	2233	c.2126C>A	c.(2125-2127)gCt>gAt	p.A709D		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	709	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CATAAGCAAAGCCATTTCAGC	0.398													False	0	True	20:13698151	0	T	13698151	G	T	13698151	3	4	88	1	0	0	0	0	1	0	0	0	5283	971	34	3	437	3	ESF1	20	13698151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2371	13698151	49327369	19243	26955											
ESF1	51575	broad.mit.edu	37	chr20	13714488	13714488	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgcactttctttaagAcctgaggaaaaatccaaata	5	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13714488A>C	ENST00000202816.1	-	10	1937	c.1830T>G	c.(1828-1830)ggT>ggG	p.G610G		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	610	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTCTTTAAGACCTGAGGAAA	0.289													False	0	False	20:13714488	0	C	13714488	A	C	13714488	5	2	88	1	0	0	0	0	0	0	1	0	5283	289	10	4	745	4	ESF1	20	13714488	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16337	13714488	49311032	19244	26956											
SEL1L2	80343	broad.mit.edu	37	chr20	13830889	13830889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtttccagtttcatgacgGcaaagagcacaggtatgtgg	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13830889G>A	ENST00000284951.5	-	19	1969	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.A519V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	632						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTCATGACGGCAAAGAGCAC	0.458													False	0	False	20:13830889	0	A	13830889	G	A	13830889	3	1	88	1	0	0	0	0	1	0	0	0	14092	1203	42	2	179	2	SEL1L2	20	13830889	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116401	13830889	49194631	19245	26957											
SEL1L2	80343	broad.mit.edu	37	chr20	13868480	13868480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgtagaacattgattcccGacaaatatctgtacccctaa	5	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13868480G>A	ENST00000284951.5	-	8	754	c.680C>T	c.(679-681)tCg>tTg	p.S227L	SEL1L2_ENST00000378072.5_Missense_Mutation_p.S227L|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	227						integral to membrane	binding	p.S227L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATTGATTCCCGACAAATATCT	0.303													False	0	True	20:13868480	0	A	13868480	G	A	13868480	3	1	88	1	0	0	0	0	1	0	0	0	14092	1059	37	1	1438	1	SEL1L2	20	13868480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37591	13868480	49157040	19246	26958											
SEL1L2	80343	broad.mit.edu	37	chr20	13868619	13868619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggacatcatgtttcctccaGcacttccaaaggtgtaatat	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13868619G>T	ENST00000284951.5	-	7	706	c.632C>A	c.(631-633)gCt>gAt	p.A211D	SEL1L2_ENST00000378072.5_Missense_Mutation_p.A211D|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	211						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTTCCTCCAGCACTTCCAAA	0.343													False	0	False	20:13868619	0	T	13868619	G	T	13868619	3	4	88	1	0	0	0	0	1	0	0	0	14092	971	34	3	1490	3	SEL1L2	20	13868619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139	13868619	49156901	19247	26959											
SEL1L2	80343	broad.mit.edu	37	chr20	13869125	13869125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttagcttgatcatattccaTtcctattccataagaagaca	4	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13869125T>C	ENST00000284951.5	-	6	657	c.583A>G	c.(583-585)Atg>Gtg	p.M195V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.M195V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	195						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCATATTCCATTCCTATTCCA	0.264													False	0	True	20:13869125	0	C	13869125	T	C	13869125	3	2	88	1	0	0	0	0	1	0	0	0	14092	1493	52	4	1543	4	SEL1L2	20	13869125	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	506	13869125	49156395	19248	26960											
SEL1L2	80343	broad.mit.edu	37	chr20	13971165	13971165	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatcaatatctctattaacaGagacaagggcttcatcttct	5	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13971165G>A	ENST00000284951.5	-	1	90	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	SEL1L2_ENST00000378072.5_Silent_p.L6L|SEL1L2_ENST00000486903.1_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	6						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCTATTAACAGAGACAAGGGC	0.418													False	0	False	20:13971165	0	A	13971165	G	A	13971165	2	1	88	1	0	0	0	0	0	0	0	1	14092	933	33	2		2	SEL1L2	20	13971165	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102040	13971165	49054355	19249	26961											
FLRT3	23767	broad.mit.edu	37	chr20	14306234	14306234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatctgagtctggaataCcactgtctctgtagcttcgg	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14306234C>T	ENST00000378053.3	-	2	2175	c.1919G>A	c.(1918-1920)gGt>gAt	p.G640D	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.G640D|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	640					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GTCTGGAATACCACTGTCTCT	0.423													False	0	False	20:14306234	0	T	14306234	C	T	14306234	3	4	88	1	0	0	0	0	1	0	0	0	5980	507	18	2	34	2	FLRT3	20	14306234	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335069	14306234	48719286	19250	26962											
FLRT3	23767	broad.mit.edu	37	chr20	14307515	14307515	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtcacctaaaccatgaTtgttcaacaggtttccatct	5	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14307515T>G	ENST00000378053.3	-	2	894	c.638A>C	c.(637-639)aAt>aCt	p.N213T	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.N213T|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	213					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TAAACCATGATTGTTCAACAG	0.443													False	0	False	20:14307515	0	G	14307515	T	G	14307515	3	3	88	1	0	0	0	0	1	0	0	0	5980	1493	52	4	1315	4	FLRT3	20	14307515	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1281	14307515	48718005	19251	26963											
FLRT3	23767	broad.mit.edu	37	chr20	14307947	14307947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcccagcattatttattTggttgttctgaaggtagaga	10	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14307947T>C	ENST00000378053.3	-	2	462	c.206A>G	c.(205-207)cAa>cGa	p.Q69R	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.Q69R|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	69					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ATTATTTATTTGGTTGTTCTG	0.393													False	0	True	20:14307947	0	C	14307947	T	C	14307947	3	2	88	1	0	0	0	0	1	0	0	0	5980	1812	63	4	1747	4	FLRT3	20	14307947	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	432	14307947	48717573	19252	26964											
FLRT3	23767	broad.mit.edu	37	chr20	14308063	14308063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgacacacagatggacaGgatttagccataactgatag	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14308063G>A	ENST00000378053.3	-	2	346	c.90C>T	c.(88-90)tcC>tcT	p.S30S	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.S30S|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	30	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGATGGACAGGATTTAGCCA	0.478													False	0	False	20:14308063	0	A	14308063	G	A	14308063	2	1	88	1	0	0	0	0	0	0	0	1	5980	987	35	2		2	FLRT3	20	14308063	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116	14308063	48717457	19253	26965											
MACROD2	140733	broad.mit.edu	37	chr20	14474150	14474150	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccagtcttcttggaggaggAggtggtaagtcctgaacatc	14	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14474150A>T	ENST00000217246.4	+	4	692	c.297A>T	c.(295-297)ggA>ggT	p.G99G	MACROD2_ENST00000310348.4_Silent_p.G99G	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	99	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTGGAGGAGGAGGTGGTAAGT	0.279													False	0	True	20:14474150	0	T	14474150	A	T	14474150	2	4	88	1	0	0	0	0	0	0	0	1	9209	291	11	5		5	MACROD2	20	14474150	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	166087	14474150	48551370	19254	26966											
MACROD2	140733	broad.mit.edu	37	chr20	15948212	15948212	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgttagattttgcaaaggatGaaaatattacaaaaggcggt	10	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:15948212G>A	ENST00000217246.4	+	13	1317	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	MACROD2_ENST00000378058.3_Missense_Mutation_p.E73K|MACROD2_ENST00000310348.4_Missense_Mutation_p.E308K|MACROD2_ENST00000402914.1_Missense_Mutation_p.E73K	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	308	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TGCAAAGGATGAAAATATTAC	0.358													False	0	True	20:15948212	0	A	15948212	G	A	15948212	3	1	88	1	0	0	0	0	1	0	0	0	9209	1291	45	2	972	2	MACROD2	20	15948212	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1474062	15948212	47077308	19255	26967											
MACROD2	140733	broad.mit.edu	37	chr20	15948254	15948254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgacagatcattctgtgCgtgaccaagatcatcccgat	9	10	3	4	rs150223084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:15948254C>T	ENST00000217246.4	+	13	1359	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	MACROD2_ENST00000378058.3_Missense_Mutation_p.R87C|MACROD2_ENST00000310348.4_Missense_Mutation_p.R322C|MACROD2_ENST00000402914.1_Missense_Mutation_p.R87C	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	322	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TCATTCTGTGCGTGACCAAGA	0.348													False	0	False	20:15948254	0	T	15948254	C	T	15948254	3	4	88	1	0	0	0	0	1	0	0	0	9209	768	27	1	1014	1	MACROD2	20	15948254	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	15948254	47077266	19256	26968											
MACROD2	140733	broad.mit.edu	37	chr20	16021894	16021894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaaagtgaaggctccaGtgacctagaaaatactccag	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16021894G>T	ENST00000217246.4	+	16	1597	c.1202G>T	c.(1201-1203)aGt>aTt	p.S401I	MACROD2_ENST00000378058.3_Missense_Mutation_p.S166I|MACROD2_ENST00000310348.4_Missense_Mutation_p.S401I|MACROD2_ENST00000407045.3_Missense_Mutation_p.S52I|MACROD2_ENST00000402914.1_Missense_Mutation_p.S166I	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	401										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAAGGCTCCAGTGACCTAGAA	0.448													False	0	False	20:16021894	0	T	16021894	G	T	16021894	3	4	88	1	0	0	0	0	1	0	0	0	9209	1029	36	3	1264	3	MACROD2	20	16021894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73640	16021894	47003626	19257	26969											
KIF16B	55614	broad.mit.edu	37	chr20	16348282	16348282	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttccatatttccatgaagaaAgtaaatcatgtcaaccaagg	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16348282A>T	ENST00000408042.1	-	23	3845	c.3688T>A	c.(3688-3690)Ttt>Att	p.F1230I	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCATGAAGAAAGTAAATCATG	0.423													False	0	True	20:16348282	0	T	16348282	A	T	16348282	3	4	88	1	0	0	0	0	1	0	0	0	8328	87	3	5		5	KIF16B	20	16348282	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	326388	16348282	46677238	19258	26970											
KIF16B	55614	broad.mit.edu	37	chr20	16355009	16355009	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatctttttgaacaccatcGacctcataaatcttctgttt	4	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16355009G>A	ENST00000354981.2	-	20	3400	c.3243C>T	c.(3241-3243)gtC>gtT	p.V1081V	KIF16B_ENST00000378003.2_Silent_p.V307V|KIF16B_ENST00000355755.3_Silent_p.V1081V|KIF16B_ENST00000408042.1_Silent_p.V1081V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1081					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAACACCATCGACCTCATAAA	0.443													False	0	False	20:16355009	0	A	16355009	G	A	16355009	2	1	88	1	0	0	0	0	0	0	0	1	8328	1045	37	1		1	KIF16B	20	16355009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6727	16355009	46670511	19259	26971											
KIF16B	55614	broad.mit.edu	37	chr20	16486701	16486701	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgttccccagagtcacgagGgacttgttaatatttccccc	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16486701G>T	ENST00000354981.2	-	8	991	c.834C>A	c.(832-834)tcC>tcA	p.S278S	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.S278S|KIF16B_ENST00000408042.1_Silent_p.S278S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	278	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAGTCACGAGGGACTTGTTAA	0.512													False	0	True	20:16486701	0	T	16486701	G	T	16486701	2	4	88	1	0	0	0	0	0	0	0	1	8328	1219	43	3		3	KIF16B	20	16486701	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131692	16486701	46538819	19260	26972											
OTOR	56914	broad.mit.edu	37	chr20	16729634	16729634	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaaagaaaatggagctggaGaattttgggctggcagtgta	14	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16729634G>T	ENST00000246081.2	+	2	282	c.238G>T	c.(238-240)Gaa>Taa	p.E80*		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	80	SH3.				sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TGGAGCTGGAGAATTTTGGGC	0.363													False	0	False	20:16729634	0	T	16729634	G	T	16729634	4	4	88	1	0	0	0	0	0	1	0	0	11376	943	33	3	244	3	OTOR	20	16729634	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242933	16729634	46295886	19261	26973											
PCSK2	5126	broad.mit.edu	37	chr20	17462277	17462277	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgacactcacaaccgacgcCtgtgaggggaaggaaaattt	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17462277C>A	ENST00000262545.2	+	12	1794	c.1479C>A	c.(1477-1479)gcC>gcA	p.A493A	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.A474A|PCSK2_ENST00000536609.1_Silent_p.A458A	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	493					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAACCGACGCCTGTGAGGGGA	0.517													False	0	False	20:17462277	0	A	17462277	C	A	17462277	2	1	88	1	0	0	0	0	0	0	0	1	11669	668	24	3		3	PCSK2	20	17462277	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	732643	17462277	45563243	19262	26974											
RRBP1	6238	broad.mit.edu	37	chr20	17610570	17610570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgacctcgtccaggcGcttctgcagggcctcctcac	11	18	2	1	rs147114989		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17610570G>A	ENST00000377813.1	-	9	2950	c.2647C>T	c.(2647-2649)Cgc>Tgc	p.R883C	RRBP1_ENST00000455029.2_Missense_Mutation_p.R224C|RRBP1_ENST00000377807.2_Missense_Mutation_p.R450C|RRBP1_ENST00000246043.4_Missense_Mutation_p.R883C|RRBP1_ENST00000360807.4_Missense_Mutation_p.R450C			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	883					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TCGTCCAGGCGCTTCTGCAGG	0.697													False	0	False	20:17610570	0	A	17610570	G	A	17610570	3	1	88	1	0	0	0	0	1	0	0	0	13757	1087	38	1	1653	1	RRBP1	20	17610570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148293	17610570	45414950	19263	26975											
SNX5	27131	broad.mit.edu	37	chr20	17923780	17923780	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttttatttccagttcagAcatttcaattagattctttc	4	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17923780A>C	ENST00000377768.3	-	13	1450	c.1138T>G	c.(1138-1140)Tct>Gct	p.S380A	SNX5_ENST00000377759.4_Missense_Mutation_p.S380A|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	380	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCCAGTTCAGACATTTCAATT	0.328													False	0	False	20:17923780	0	C	17923780	A	C	17923780	3	2	88	1	0	0	0	0	1	0	0	0	14985	275	10	4	84	4	SNX5	20	17923780	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	313210	17923780	45101740	19264	26976											
SNX5	27131	broad.mit.edu	37	chr20	17934647	17934647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatccacttacgcttccaGttcttgtttcatcttggcaa	5	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17934647G>T	ENST00000377768.3	-	5	694	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	SNX5_ENST00000377759.4_Missense_Mutation_p.L128M|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	128	PX.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TACGCTTCCAGTTCTTGTTTC	0.423													False	0	False	20:17934647	0	T	17934647	G	T	17934647	3	4	88	1	0	0	0	0	1	0	0	0	14985	1020	36	3	872	3	SNX5	20	17934647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10867	17934647	45090873	19265	26977											
CSRP2BP	57325	broad.mit.edu	37	chr20	18143582	18143582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacttcagaatccttgaccGataccaggtgaatgcaagca	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18143582G>A	ENST00000435364.3	+	6	2005	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R427Q|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R554Q	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein						histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATCCTTGACCGATACCAGGTG	0.527													False	0	False	20:18143582	0	A	18143582	G	A	18143582	3	1	88	1	0	0	0	0	1	0	0	0	3993	1058	37	1	1686	1	CSRP2BP	20	18143582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	208935	18143582	44881938	19266	26978											
CSRP2BP	57325	broad.mit.edu	37	chr20	18162409	18162409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaccaagtttttgtatcGcttggtaggatcagaagata	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18162409G>A	ENST00000435364.3	+	7	2068	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R448H|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R575H	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein						histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTTTTGTATCGCTTGGTAGGA	0.428													False	0	False	20:18162409	0	A	18162409	G	A	18162409	3	1	88	1	0	0	0	0	1	0	0	0	3993	1087	38	1	1753	1	CSRP2BP	20	18162409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18827	18162409	44863111	19267	26979											
ZNF133	7692	broad.mit.edu	37	chr20	18297040	18297040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgttgcacaccagaggacGcactcaggggagaggccgta	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18297040G>A	ENST00000377671.3	+	7	2101	c.1542G>A	c.(1540-1542)acG>acA	p.T514T	ZNF133_ENST00000402618.2_Silent_p.T452T|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000538547.1_Silent_p.T420T|ZNF133_ENST00000396026.3_Silent_p.T518T|ZNF133_ENST00000535822.1_Silent_p.T420T|ZNF133_ENST00000316358.4_Silent_p.T515T|ZNF133_ENST00000401790.1_Silent_p.T515T	NM_001083330.2|NM_003434.4	NP_001076799.1|NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	515						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						ACCAGAGGACGCACTCAGGGG	0.622													False	0	False	20:18297040	0	A	18297040	G	A	18297040	2	1	88	1	0	0	0	0	0	0	0	1	17806	1074	38	1		1	ZNF133	20	18297040	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134631	18297040	44728480	19268	26980											
ZNF133	7692	broad.mit.edu	37	chr20	18297174	18297174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgtggactgggctttgGcaataagtcagctctaatta	12	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18297174G>T	ENST00000377671.3	+	7	2235	c.1676G>T	c.(1675-1677)gGc>gTc	p.G559V	ZNF133_ENST00000402618.2_Missense_Mutation_p.G497V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000538547.1_Missense_Mutation_p.G465V|ZNF133_ENST00000396026.3_Missense_Mutation_p.G563V|ZNF133_ENST00000535822.1_Missense_Mutation_p.G465V|ZNF133_ENST00000316358.4_Missense_Mutation_p.G560V|ZNF133_ENST00000401790.1_Missense_Mutation_p.G560V	NM_001083330.2|NM_003434.4	NP_001076799.1|NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	560						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						CTGGGCTTTGGCAATAAGTCA	0.562													False	0	False	20:18297174	0	T	18297174	G	T	18297174	3	4	88	1	0	0	0	0	1	0	0	0	17806	1203	42	3	1686	3	ZNF133	20	18297174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134	18297174	44728346	19269	26981											
RBBP9	10741	broad.mit.edu	37	chr20	18471048	18471048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggacttaccacttgcacGctcattttcatcccccaagt	5	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18471048G>A	ENST00000337227.4	-	4	400	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	RBBP9_ENST00000493184.1_Intron	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	109						cytoplasm|nucleus	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						CCACTTGCACGCTCATTTTCA	0.423													False	0	False	20:18471048	0	A	18471048	G	A	18471048	3	1	88	1	0	0	0	0	1	0	0	0	13185	1087	38	1	243	1	RBBP9	20	18471048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173874	18471048	44554472	19270	26982											
SLC24A3	57419	broad.mit.edu	37	chr20	19698237	19698237	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcctctgtttttgtcacGgtaggttggcagctctctcc	11	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:19698237G>A	ENST00000328041.6	+	16	1982	c.1785G>A	c.(1783-1785)acG>acA	p.T595T		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	595						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTTTTGTCACGGTAGGTTGGC	0.522													False	0	False	20:19698237	0	A	19698237	G	A	19698237	5	1	88	1	0	0	0	0	0	0	1	0	14547	1130	39	1	1847	1	SLC24A3	20	19698237	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1227189	19698237	43327283	19271	26983											
CRNKL1	51340	broad.mit.edu	37	chr20	20016875	20016875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgacgtcctcatctggatgGtgctcagcatcctccttttc	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20016875G>A	ENST00000377340.2	-	15	2542	c.2511C>T	c.(2509-2511)caC>caT	p.H837H	CRNKL1_ENST00000377327.4_Silent_p.H825H|CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000536226.1_Silent_p.H676H	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	837					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CATCTGGATGGTGCTCAGCAT	0.413													False	0	False	20:20016875	0	A	20016875	G	A	20016875	2	1	88	1	0	0	0	0	0	0	0	1	3914	1252	44	2		2	CRNKL1	20	20016875	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318638	20016875	43008645	19272	26984											
C20orf26	26074	broad.mit.edu	37	chr20	20144736	20144736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccactggatatgcacagTatcaccatgtcagcagtagg	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20144736T>C	ENST00000245957.5	+	11	1145	c.1069T>C	c.(1069-1071)Tat>Cat	p.Y357H	C20orf26_ENST00000451767.2_Missense_Mutation_p.Y357H|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.Y357H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	357										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATATGCACAGTATCACCATGT	0.502													False	0	False	20:20144736	0	C	20144736	T	C	20144736	3	2	88	1	0	0	0	0	1	0	0	0	2122	1638	57	4	1107	4	C20orf26	20	20144736	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	127861	20144736	42880784	19273	26985											
C20orf26	26074	broad.mit.edu	37	chr20	20180434	20180434	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccagaacccctacgcccactCcctgacatctgcccttcatt	4	20	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20180434C>A	ENST00000245957.5	+	17	1896	c.1820C>A	c.(1819-1821)tCc>tAc	p.S607Y	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	607										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TACGCCCACTCCCTGACATCT	0.498													False	0	True	20:20180434	0	A	20180434	C	A	20180434	3	1	88	1	0	0	0	0	1	0	0	0	2122	855	30	3	1914	3	C20orf26	20	20180434	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35698	20180434	42845086	19274	26986											
C20orf26	26074	broad.mit.edu	37	chr20	20180517	20180517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaaagcttggcataaacGctccatcaaaggcggtctcc	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20180517G>A	ENST00000245957.5	+	17	1979	c.1903G>A	c.(1903-1905)Gct>Act	p.A635T	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	635										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGGCATAAACGCTCCATCAAA	0.627													False	0	False	20:20180517	0	A	20180517	G	A	20180517	3	1	88	1	0	0	0	0	1	0	0	0	2122	1087	38	1	1997	1	C20orf26	20	20180517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	20180517	42845003	19275	26987											
C20orf26	26074	broad.mit.edu	37	chr20	20269275	20269275	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcagcttctgtgagaAgaatgtggattatgaaacgt	11	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20269275A>C	ENST00000245957.5	+	23	2895	c.2819A>C	c.(2818-2820)aAg>aCg	p.K940T	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	940										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTCTGTGAGAAGAATGTGGAT	0.403													False	0	False	20:20269275	0	C	20269275	A	C	20269275	3	2	88	1	0	0	0	0	1	0	0	0	2122	72	3	4	2937	4	C20orf26	20	20269275	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	88758	20269275	42756245	19276	26988											
C20orf26	26074	broad.mit.edu	37	chr20	20278871	20278871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaaaatgggacttacttccGaattcatattaacaagtata	6	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20278871G>A	ENST00000245957.5	+	25	3339	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1088								p.R1088Q(3)|p.R1088P(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTTACTTCCGAATTCATATT	0.458													False	0	False	20:20278871	0	A	20278871	G	A	20278871	3	1	88	1	0	0	0	0	1	0	0	0	2122	1058	37	1	3389	1	C20orf26	20	20278871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9596	20278871	42746649	19277	26989											
C20orf26	26074	broad.mit.edu	37	chr20	20279025	20279025	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaaacctgatcacagatctCtataggtgagttggacattg	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20279025C>T	ENST00000245957.5	+	25	3493	c.3417C>T	c.(3415-3417)ctC>ctT	p.L1139L	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1139										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCACAGATCTCTATAGGTGAG	0.463													False	0	False	20:20279025	0	T	20279025	C	T	20279025	2	4	88	1	0	0	0	0	0	0	0	1	2122	900	32	2		2	C20orf26	20	20279025	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154	20279025	42746495	19278	26990											
C20orf26	26074	broad.mit.edu	37	chr20	20340951	20340951	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatacctcaaaagagtttTtgaggaatccatctacaaaa	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20340951T>G	ENST00000245957.5	+	27	3687	c.3611T>G	c.(3610-3612)tTt>tGt	p.F1204C	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1204										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AAAAGAGTTTTTGAGGAATCC	0.488											OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	20:20340951	0	G	20340951	T	G	20340951	3	3	88	1	0	0	0	0	1	0	0	0	2122	1841	64	4	3745	4	C20orf26	20	20340951	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	61926	20340951	42684569	19279	26991											
RALGAPA2	57186	broad.mit.edu	37	chr20	20517328	20517328	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagttcctgtaatggccTcatttacttctggcactgac	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20517328T>G	ENST00000202677.7	-	25	3393	c.3386A>C	c.(3385-3387)gAg>gCg	p.E1129A		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGTAATGGCCTCATTTACTTC	0.428													False	0	False	20:20517328	0	G	20517328	T	G	20517328	3	3	88	1	0	0	0	0	1	0	0	0	13093	1551	54	4	2295	4	RALGAPA2	20	20517328	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176377	20517328	42508192	19280	26992											
RALGAPA2	57186	broad.mit.edu	37	chr20	20620538	20620538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgatttcttctggatatAtctttactgaaaggacagaa	9	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20620538A>G	ENST00000202677.7	-	7	564	c.557T>C	c.(556-558)aTa>aCa	p.I186T		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTCTGGATATATCTTTACTGA	0.343													False	0	True	20:20620538	0	G	20620538	A	G	20620538	3	3	88	1	0	0	0	0	1	0	0	0	13093	449	16	4	5196	4	RALGAPA2	20	20620538	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103210	20620538	42404982	19281	26993											
XRN2	22803	broad.mit.edu	37	chr20	21306927	21306927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcatagccaaaagaatGcaatggtgtaaagattccag	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21306927G>A	ENST00000377191.3	+	2	181	c.86G>A	c.(85-87)tGc>tAc	p.C29Y	XRN2_ENST00000430571.2_Intron|XRN2_ENST00000539513.1_5'UTR	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	29					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCAAAAGAATGCAATGGTGTA	0.343													False	0	False	20:21306927	0	A	21306927	G	A	21306927	3	1	88	1	0	0	0	0	1	0	0	0	17544	1319	46	2	92	2	XRN2	20	21306927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	686389	21306927	41718593	19282	26994											
XRN2	22803	broad.mit.edu	37	chr20	21314400	21314400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatttgatgttgagaggaGcattgatgactgggttttca	12	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21314400G>T	ENST00000377191.3	+	11	1087	c.992G>T	c.(991-993)aGc>aTc	p.S331I	XRN2_ENST00000430571.2_Missense_Mutation_p.S255I|XRN2_ENST00000539513.1_Missense_Mutation_p.S277I	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	331					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTTGAGAGGAGCATTGATGAC	0.418													False	0	False	20:21314400	0	T	21314400	G	T	21314400	3	4	88	1	0	0	0	0	1	0	0	0	17544	971	34	3	1034	3	XRN2	20	21314400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7473	21314400	41711120	19283	26995											
XRN2	22803	broad.mit.edu	37	chr20	21346218	21346218	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaaatggtcagaaagccaGcagcagtactgaaacctagt	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21346218G>T	ENST00000377191.3	+	26	2427	c.2332G>T	c.(2332-2334)Gca>Tca	p.A778S	XRN2_ENST00000430571.2_Missense_Mutation_p.A702S|XRN2_ENST00000539513.1_Missense_Mutation_p.A724S	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	778					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CAGAAAGCCAGCAGCAGTACT	0.443													False	0	True	20:21346218	0	T	21346218	G	T	21346218	3	4	88	1	0	0	0	0	1	0	0	0	17544	971	34	3	2434	3	XRN2	20	21346218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31818	21346218	41679302	19284	26996											
NKX2-4	644524	broad.mit.edu	37	chr20	21376850	21376850	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccctcctgctgcagcTgctgcgccgccttgtccttg	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21376850T>G	ENST00000351817.4	-	2	1392	c.764A>C	c.(763-765)cAg>cCg	p.Q255P		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	255					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						CTGCTGCAGCTGCTGCGCCGC	0.701													False	0	False	20:21376850	0	G	21376850	T	G	21376850	3	3	88	1	0	0	0	0	1	0	0	0	10520	1580	55	4	304	4	NKX2-4	20	21376850	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30632	21376850	41648670	19285	26997											
NKX2-2	4821	broad.mit.edu	37	chr20	21492786	21492786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacggccacccggcgcggCgagggcaggggcgtcacctc	18	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21492786C>T	ENST00000377142.4	-	2	953	c.597G>A	c.(595-597)tcG>tcA	p.S199S	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	199					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCCGGCGCGGCGAGGGCAGGG	0.672													False	0	True	20:21492786	0	T	21492786	C	T	21492786	2	4	88	1	0	0	0	0	0	0	0	1	10518	755	27	1		1	NKX2-2	20	21492786	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115936	21492786	41532734	19286	26998											
NKX2-2	4821	broad.mit.edu	37	chr20	21494152	21494152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctctgcaccgcgtccagGgcgccctgccccagcggccc	13	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21494152G>A	ENST00000377142.4	-	1	512	c.156C>T	c.(154-156)gcC>gcT	p.A52A		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	52					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCGCGTCCAGGGCGCCCTGCC	0.687													False	0	True	20:21494152	0	A	21494152	G	A	21494152	2	1	88	1	0	0	0	0	0	0	0	1	10518	1219	43	2		2	NKX2-2	20	21494152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1366	21494152	41531368	19287	26999											
SSTR4	6754	broad.mit.edu	37	chr20	23016359	23016359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctacgccaagatgaagaCggctaccaacatctacctgc	8	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016359C>T	ENST00000255008.3	+	1	303	c.239C>T	c.(238-240)aCg>aTg	p.T80M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	80					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.T80M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AAGATGAAGACGGCTACCAAC	0.632													False	0	False	20:23016359	0	T	23016359	C	T	23016359	3	4	88	1	0	0	0	0	1	0	0	0	15282	536	19	1	241	1	SSTR4	20	23016359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1522207	23016359	40009161	19288	27000											
SSTR4	6754	broad.mit.edu	37	chr20	23016448	23016448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctcgtcggccgccctgCgccactggcccttcggctcc	12	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016448C>T	ENST00000255008.3	+	1	392	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	110					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCGCCCTGCGCCACTGGCC	0.642													False	0	False	20:23016448	0	T	23016448	C	T	23016448	3	4	88	1	0	0	0	0	1	0	0	0	15282	768	27	1	330	1	SSTR4	20	23016448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89	23016448	40009072	19289	27001											
SSTR4	6754	broad.mit.edu	37	chr20	23016594	23016594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgcggcgacctaccgGcggcccagcgtggccaagct	15	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016594G>A	ENST00000255008.3	+	1	538	c.474G>A	c.(472-474)cgG>cgA	p.R158R	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	158					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGACCTACCGGCGGCCCAGCG	0.662													False	0	False	20:23016594	0	A	23016594	G	A	23016594	2	1	88	1	0	0	0	0	0	0	0	1	15282	1190	42	2		2	SSTR4	20	23016594	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	23016594	40008926	19290	27002											
SSTR4	6754	broad.mit.edu	37	chr20	23016650	23016650	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggctggcatccctgttggTcactctccccatcgccatct	9	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016650T>A	ENST00000255008.3	+	1	594	c.530T>A	c.(529-531)gTc>gAc	p.V177D	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	177					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCCTGTTGGTCACTCTCCCC	0.706													False	0	False	20:23016650	0	A	23016650	T	A	23016650	3	1	88	1	0	0	0	0	1	0	0	0	15282	1667	58	5	532	5	SSTR4	20	23016650	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56	23016650	40008870	19291	27003											
THBD	7056	broad.mit.edu	37	chr20	23028870	23028870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagccttcagggcactcacaGctagcctgggtgttggggtc	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23028870G>T	ENST00000377103.2	-	1	1508	c.1272C>A	c.(1270-1272)agC>agA	p.S424R		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	424	EGF-like 5.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GGCACTCACAGCTAGCCTGGG	0.627													False	0	False	20:23028870	0	T	23028870	G	T	23028870	3	4	88	1	0	0	0	0	1	0	0	0	15934	962	34	3	459	3	THBD	20	23028870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12220	23028870	39996650	19292	27004											
THBD	7056	broad.mit.edu	37	chr20	23028930	23028930	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctggttgcaaaacatctgGcacctgtgcggctcgtgggg	15	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23028930G>T	ENST00000377103.2	-	1	1448	c.1212C>A	c.(1210-1212)tgC>tgA	p.C404*		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	404	EGF-like 4.|EGF-like 5.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	AAAACATCTGGCACCTGTGCG	0.617													False	0	False	20:23028930	0	T	23028930	G	T	23028930	4	4	88	1	0	0	0	0	0	1	0	0	15934	1195	42	3	519	3	THBD	20	23028930	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	23028930	39996590	19293	27005											
THBD	7056	broad.mit.edu	37	chr20	23029298	23029298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggactgcgtcgcggatgCggtgcaggagcgcccgtctg	18	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23029298C>T	ENST00000377103.2	-	1	1080	c.844G>A	c.(844-846)Gca>Aca	p.A282T		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	282					blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GTCGCGGATGCGGTGCAGGAG	0.711													False	0	False	20:23029298	0	T	23029298	C	T	23029298	3	4	88	1	0	0	0	0	1	0	0	0	15934	768	27	1	887	1	THBD	20	23029298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	368	23029298	39996222	19294	27006											
CD93	22918	broad.mit.edu	37	chr20	23065886	23065886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcccaggacgcacgtgGcccccccacgacatgggctg	15	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23065886G>A	ENST00000246006.4	-	1	1091	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	315	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GACGCACGTGGCCCCCCCACG	0.632													False	0	True	20:23065886	0	A	23065886	G	A	23065886	3	1	88	1	0	0	0	0	1	0	0	0	3070	1203	42	2	1022	2	CD93	20	23065886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36588	23065886	39959634	19295	27007											
CD93	22918	broad.mit.edu	37	chr20	23066450	23066450	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccggagctccttgtgccagTtagagtaaggcgtgtcctcc	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066450T>C	ENST00000246006.4	-	1	527	c.380A>G	c.(379-381)aAc>aGc	p.N127S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	127	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTTGTGCCAGTTAGAGTAAGG	0.642													False	0	False	20:23066450	0	C	23066450	T	C	23066450	3	2	88	1	0	0	0	0	1	0	0	0	3070	1725	60	4	1586	4	CD93	20	23066450	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	564	23066450	39959070	19296	27008											
CD93	22918	broad.mit.edu	37	chr20	23066551	23066551	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctcgctggagcccaatccaGaacttgctcatcctcgccgt	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066551G>A	ENST00000246006.4	-	1	426	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	93	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCCAATCCAGAACTTGCTCA	0.647													False	0	False	20:23066551	0	A	23066551	G	A	23066551	2	1	88	1	0	0	0	0	0	0	0	1	3070	933	33	2		2	CD93	20	23066551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101	23066551	39958969	19297	27009											
CD93	22918	broad.mit.edu	37	chr20	23066662	23066662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtggccaggttgcccccGttctggttgcagtggttctg	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066662G>A	ENST00000246006.4	-	1	315	c.168C>T	c.(166-168)aaC>aaT	p.N56N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	56	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTTGCCCCCGTTCTGGTTGC	0.687													False	0	True	20:23066662	0	A	23066662	G	A	23066662	2	1	88	1	0	0	0	0	0	0	0	1	3070	1136	40	1		1	CD93	20	23066662	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	23066662	39958858	19298	27010											
NXT1	29107	broad.mit.edu	37	chr20	23335079	23335079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgcaagtgactgcttccGcttccaggactgggccagct	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23335079G>A	ENST00000254998.2	+	2	788	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	NTF2-like export factor 1	134	NTF2.					cytoplasm|nuclear pore				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GACTGCTTCCGCTTCCAGGAC	0.542													False	0	True	20:23335079	0	A	23335079	G	A	23335079	3	1	88	1	0	0	0	0	1	0	0	0	10862	1087	38	1	403	1	NXT1	20	23335079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268417	23335079	39690441	19299	27011											
GZF1	64412	broad.mit.edu	37	chr20	23345726	23345726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggtctttgtggagatcCctaaaaagaaatatacgaga	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23345726C>T	ENST00000338121.5	+	2	783	c.706C>T	c.(706-708)Cct>Tct	p.P236S	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.P236S			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	236					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTGGAGATCCCTAAAAAGAA	0.507													False	0	True	20:23345726	0	T	23345726	C	T	23345726	3	4	88	1	0	0	0	0	1	0	0	0	6961	623	22	2	708	2	GZF1	20	23345726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10647	23345726	39679794	19300	27012											
GZF1	64412	broad.mit.edu	37	chr20	23346039	23346039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacagcaagcaccgccAcggcgtggccaccgaggtgg	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23346039A>G	ENST00000338121.5	+	2	1096	c.1019A>G	c.(1018-1020)cAc>cGc	p.H340R	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Missense_Mutation_p.H340R			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	340					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AAGCACCGCCACGGCGTGGCC	0.592													False	0	False	20:23346039	0	G	23346039	A	G	23346039	3	3	88	1	0	0	0	0	1	0	0	0	6961	159	6	4	1021	4	GZF1	20	23346039	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	313	23346039	39679481	19301	27013											
GZF1	64412	broad.mit.edu	37	chr20	23350348	23350348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgcggacggacattcacCgacaagtccactcttcggcg	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350348C>T	ENST00000338121.5	+	5	1832	c.1755C>T	c.(1753-1755)acC>acT	p.T585T	GZF1_ENST00000544236.1_Silent_p.T109T|GZF1_ENST00000542987.1_Silent_p.T94T|GZF1_ENST00000377051.2_Silent_p.T585T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	585					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GGACATTCACCGACAAGTCCA	0.572													False	0	False	20:23350348	0	T	23350348	C	T	23350348	2	4	88	1	0	0	0	0	0	0	0	1	6961	639	23	1		1	GZF1	20	23350348	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4309	23350348	39675172	19302	27014											
GZF1	64412	broad.mit.edu	37	chr20	23350364	23350364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaccgacaagtccactcttCggcggcacacctcagtaagc	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350364C>T	ENST00000338121.5	+	5	1848	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	GZF1_ENST00000544236.1_Missense_Mutation_p.R115W|GZF1_ENST00000542987.1_Missense_Mutation_p.R100W|GZF1_ENST00000377051.2_Missense_Mutation_p.R591W			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	591					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GTCCACTCTTCGGCGGCACAC	0.562													False	0	False	20:23350364	0	T	23350364	C	T	23350364	3	4	88	1	0	0	0	0	1	0	0	0	6961	875	31	1	1785	1	GZF1	20	23350364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	23350364	39675156	19303	27015											
GZF1	64412	broad.mit.edu	37	chr20	23350738	23350738	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taacttatagatacacgataAgaatactccatggaagtctt	6	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350738A>C	ENST00000338121.5	+	6	1873	c.1796A>C	c.(1795-1797)aAg>aCg	p.K599T	GZF1_ENST00000544236.1_Missense_Mutation_p.K123T|GZF1_ENST00000542987.1_Missense_Mutation_p.K108T|GZF1_ENST00000377051.2_Missense_Mutation_p.K599T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	599					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ATACACGATAAGAATACTCCA	0.403													False	0	False	20:23350738	0	C	23350738	A	C	23350738	3	2	88	1	0	0	0	0	1	0	0	0	6961	72	3	4	1814	4	GZF1	20	23350738	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	374	23350738	39674782	19304	27016											
CST11	140880	broad.mit.edu	37	chr20	23433311	23433311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgatccactgcaagctGtccttcgcatagttttctac	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23433311G>A	ENST00000377009.3	-	1	171	c.138C>T	c.(136-138)gaC>gaT	p.D46D	CST11_ENST00000377007.3_Silent_p.D46D	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	46					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACTGCAAGCTGTCCTTCGCAT	0.473													False	0	False	20:23433311	0	A	23433311	G	A	23433311	2	1	88	1	0	0	0	0	0	0	0	1	3996	1368	48	2		2	CST11	20	23433311	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82573	23433311	39592209	19305	27017											
CST9L	128821	broad.mit.edu	37	chr20	23548955	23548955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgtggcagggaggtaacGagccatgacattgtgttcat	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23548955G>A	ENST00000376979.3	-	1	431	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	45						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGGAGGTAACGAGCCATGACA	0.522													False	0	False	20:23548955	0	A	23548955	G	A	23548955	3	1	88	1	0	0	0	0	1	0	0	0	4005	1058	37	1	322	1	CST9L	20	23548955	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115644	23548955	39476565	19306	27018											
CST9L	128821	broad.mit.edu	37	chr20	23549084	23549084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccttccacggcaggcccaGcatggtgctgactgtaggca	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23549084G>T	ENST00000376979.3	-	1	302	c.4C>A	c.(4-6)Ctg>Atg	p.L2M		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	2						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGCAGGCCCAGCATGGTGCTG	0.577													False	0	False	20:23549084	0	T	23549084	G	T	23549084	3	4	88	1	0	0	0	0	1	0	0	0	4005	962	34	3	451	3	CST9L	20	23549084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129	23549084	39476436	19307	27019											
CST3	1471	broad.mit.edu	37	chr20	23614613	23614613	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctgccaaggcacagcgtaGatctggaaagagcagaatgc	12	11	1	3	rs1135147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23614613G>T	ENST00000398411.1	-	3	463	c.381C>A	c.(379-381)atC>atA	p.I127I	CST3_ENST00000376925.3_Silent_p.I127I|CST3_ENST00000398409.1_Silent_p.I127I			P01034	CYTC_HUMAN	cystatin C	127					defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GCACAGCGTAGATCTGGAAAG	0.532													False	0	False	20:23614613	0	T	23614613	G	T	23614613	2	4	88	1	0	0	0	0	0	0	0	1	3998	932	33	3		3	CST3	20	23614613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65529	23614613	39410907	19308	27020											
CST2	1470	broad.mit.edu	37	chr20	23807102	23807102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtagcacccgcagcaggcGtctgtagtactcatcttcag	10	13	4	0	rs112783512	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23807102G>A	ENST00000304725.2	-	1	266	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	66						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						CGCAGCAGGCGTCTGTAGTAC	0.557													False	0	False	20:23807102	0	A	23807102	G	A	23807102	3	1	88	1	0	0	0	0	1	0	0	0	3997	1145	40	1	241	1	CST2	20	23807102	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192489	23807102	39218418	19309	27021											
CST2	1470	broad.mit.edu	37	chr20	23807128	23807128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtactcatcttcagtggccTtgttatactcgctgatgaca	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23807128T>C	ENST00000304725.2	-	1	240	c.170A>G	c.(169-171)aAg>aGg	p.K57R		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	57						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						TTCAGTGGCCTTGTTATACTC	0.572													False	0	False	20:23807128	0	C	23807128	T	C	23807128	3	2	88	1	0	0	0	0	1	0	0	0	3997	1609	56	4	267	4	CST2	20	23807128	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26	23807128	39218392	19310	27022											
CST7	8530	broad.mit.edu	37	chr20	24940294	24940294	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgagctgctactctgaagtCtgggtcgtgccctggctcca	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:24940294C>T	ENST00000480798.1	+	4	660	c.384C>T	c.(382-384)gtC>gtT	p.V128V	CST7_ENST00000376835.2_Silent_p.V150V	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	128					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						ACTCTGAAGTCTGGGTCGTGC	0.597													False	0	False	20:24940294	0	T	24940294	C	T	24940294	2	4	88	1	0	0	0	0	0	0	0	1	4002	900	32	2		2	CST7	20	24940294	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1133166	24940294	38085226	19311	27023											
ACSS1	84532	broad.mit.edu	37	chr20	25003612	25003612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatagagcaggtagcctgcCtgggtatggacgatgccctt	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25003612C>T	ENST00000537502.1	-	3	2206	c.675G>A	c.(673-675)caG>caA	p.Q225Q	ACSS1_ENST00000542618.1_Silent_p.Q187Q|ACSS1_ENST00000432802.2_Silent_p.Q308Q|ACSS1_ENST00000323482.4_Silent_p.Q308Q			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	308					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGTAGCCTGCCTGGGTATGGA	0.637													False	0	True	20:25003612	0	T	25003612	C	T	25003612	2	4	88	1	0	0	0	0	0	0	0	1	188	680	24	2		2	ACSS1	20	25003612	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63318	25003612	38021908	19312	27024											
ENTPD6	0	broad.mit.edu	37	chr20	25203540	25203540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaacagagtgcacaggaCggaggaagtgaagcatgtgg	15	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25203540C>T	ENST00000360031.2	+	12	1291	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M	ENTPD6_ENST00000376652.4_Missense_Mutation_p.T371M|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T337M|ENTPD6_ENST00000354989.5_Missense_Mutation_p.T354M|ENTPD6_ENST00000485936.1_3'UTR	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	371						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GTGCACAGGACGGAGGAAGTG	0.577													False	0	False	20:25203540	0	T	25203540	C	T	25203540	3	4	88	1	0	0	0	0	1	0	0	0	5175	536	19	1	1161	1	ENTPD6	20	25203540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199928	25203540	37821980	19313	27025											
ENTPD6	0	broad.mit.edu	37	chr20	25205907	25205907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggacctcacctacgtcaGcctgctactccaggagttcg	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25205907G>T	ENST00000360031.2	+	14	1489	c.1307G>T	c.(1306-1308)aGc>aTc	p.S436I	ENTPD6_ENST00000376652.4_Missense_Mutation_p.S437I|ENTPD6_ENST00000433259.2_Missense_Mutation_p.Q417H|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S420I|ENTPD6_ENST00000485936.1_3'UTR	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	437						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						ACCTACGTCAGCCTGCTACTC	0.607													False	0	False	20:25205907	0	T	25205907	G	T	25205907	3	4	88	1	0	0	0	0	1	0	0	0	5175	971	34	3	1367	3	ENTPD6	20	25205907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2367	25205907	37819613	19314	27026											
ENTPD6	0	broad.mit.edu	37	chr20	25205943	25205943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcggctttcccaggagcaAagtgctgaaggtaagggtgc	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25205943A>G	ENST00000360031.2	+	14	1525	c.1343A>G	c.(1342-1344)aAa>aGa	p.K448R	ENTPD6_ENST00000376652.4_Missense_Mutation_p.K449R|ENTPD6_ENST00000433259.2_Silent_p.Q429Q|ENTPD6_ENST00000354989.5_Missense_Mutation_p.K432R|ENTPD6_ENST00000485936.1_3'UTR	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	449						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCCAGGAGCAAAGTGCTGAAG	0.607													False	0	True	20:25205943	0	G	25205943	A	G	25205943	3	3	88	1	0	0	0	0	1	0	0	0	5175	14	1	4	1403	4	ENTPD6	20	25205943	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36	25205943	37819577	19315	27027											
PYGB	5834	broad.mit.edu	37	chr20	25255323	25255323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttctacggacgcgtggaGcacacccccgacggcgtgaa	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25255323G>A	ENST00000216962.4	+	5	734	c.624G>A	c.(622-624)gaG>gaA	p.E208E		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	208					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GACGCGTGGAGCACACCCCCG	0.637													False	0	False	20:25255323	0	A	25255323	G	A	25255323	2	1	88	1	0	0	0	0	0	0	0	1	12939	962	34	2		2	PYGB	20	25255323	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49380	25255323	37770197	19316	27028											
PYGB	5834	broad.mit.edu	37	chr20	25277122	25277122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtgtggagccctccgaCctgcagatcccgccccccaa	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25277122C>T	ENST00000216962.4	+	20	2606	c.2496C>T	c.(2494-2496)gaC>gaT	p.D832D	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	832					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	AGCCCTCCGACCTGCAGATCC	0.602													False	0	False	20:25277122	0	T	25277122	C	T	25277122	2	4	88	1	0	0	0	0	0	0	0	1	12939	506	18	2		2	PYGB	20	25277122	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21799	25277122	37748398	19317	27029											
ABHD12	26090	broad.mit.edu	37	chr20	25288673	25288673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccaatataagggcatctgGaggcgtctctagataaacaa	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25288673G>A	ENST00000339157.5	-	9	1068	c.796C>T	c.(796-798)Cca>Tca	p.P266S	ABHD12_ENST00000481556.1_5'UTR|ABHD12_ENST00000376542.3_Missense_Mutation_p.P266S	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	266						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						AGGGCATCTGGAGGCGTCTCT	0.463													False	0	False	20:25288673	0	A	25288673	G	A	25288673	3	1	88	1	0	0	0	0	1	0	0	0	76	1174	41	2	482	2	ABHD12	20	25288673	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11551	25288673	37736847	19318	27030											
NINL	22981	broad.mit.edu	37	chr20	25450686	25450686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgaacccttcccagatcGtttttcaacaaagtgttttc	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25450686G>A	ENST00000278886.6	-	18	3367	c.3294C>T	c.(3292-3294)aaC>aaT	p.N1098N	NINL_ENST00000422516.1_Silent_p.N749N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1098					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTCCCAGATCGTTTTTCAACA	0.507											OREG0025846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	20:25450686	0	A	25450686	G	A	25450686	2	1	88	1	0	0	0	0	0	0	0	1	10488	1136	40	1		1	NINL	20	25450686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	162013	25450686	37574834	19319	27031											
NINL	22981	broad.mit.edu	37	chr20	25457376	25457376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccgctccccacagcccgGacgcagtggtaggaggccac	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25457376G>A	ENST00000278886.6	-	17	2624	c.2551C>T	c.(2551-2553)Ccg>Tcg	p.P851S	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	851					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCACAGCCCGGACGCAGTGGT	0.706													False	0	False	20:25457376	0	A	25457376	G	A	25457376	3	1	88	1	0	0	0	0	1	0	0	0	10488	1174	41	2	1629	2	NINL	20	25457376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6690	25457376	37568144	19320	27032											
NINL	22981	broad.mit.edu	37	chr20	25470535	25470535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcagcacaaactccagGtccttctgcagcttcagggc	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25470535G>A	ENST00000278886.6	-	12	1645	c.1572C>T	c.(1570-1572)gaC>gaT	p.D524D	NINL_ENST00000422516.1_Silent_p.D524D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	524					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAAACTCCAGGTCCTTCTGCA	0.597													False	0	False	20:25470535	0	A	25470535	G	A	25470535	2	1	88	1	0	0	0	0	0	0	0	1	10488	1252	44	2		2	NINL	20	25470535	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13159	25470535	37554985	19321	27033											
NINL	22981	broad.mit.edu	37	chr20	25507115	25507115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctccaggtgaagcttaaGgcagagctgggtcagctcct	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25507115G>A	ENST00000278886.6	-	2	182	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	NINL_ENST00000422516.1_Missense_Mutation_p.L37F	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	37	EF-hand 1.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGAAGCTTAAGGCAGAGCTGG	0.572													False	0	False	20:25507115	0	A	25507115	G	A	25507115	3	1	88	1	0	0	0	0	1	0	0	0	10488	1000	35	2	4131	2	NINL	20	25507115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36580	25507115	37518405	19322	27034											
ZNF337	26152	broad.mit.edu	37	chr20	25656542	25656542	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtccacagtccttgcacAcaaaaggcttctcctctgag	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25656542A>G	ENST00000376436.1	-	4	1921	c.1382T>C	c.(1381-1383)gTg>gCg	p.V461A	ZNF337_ENST00000538750.1_Missense_Mutation_p.V429A|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.V461A					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCCTTGCACACAAAAGGCTT	0.468													False	0	True	20:25656542	0	G	25656542	A	G	25656542	3	3	88	1	0	0	0	0	1	0	0	0	17936	159	6	4	877	4	ZNF337	20	25656542	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	149427	25656542	37368978	19323	27035											
ZNF337	26152	broad.mit.edu	37	chr20	25656919	25656919	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtattctcttgtgcacaacGaagtatgacttattagtata	7	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25656919G>A	ENST00000376436.1	-	4	1544	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	ZNF337_ENST00000538750.1_Silent_p.F303F|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F335F					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTGCACAACGAAGTATGACT	0.478													False	0	False	20:25656919	0	A	25656919	G	A	25656919	2	1	88	1	0	0	0	0	0	0	0	1	17936	1049	37	1		1	ZNF337	20	25656919	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	377	25656919	37368601	19324	27036											
ZNF337	26152	broad.mit.edu	37	chr20	25657080	25657080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtgtgtgttctctcatGcacagtgaggtatgacttac	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25657080G>A	ENST00000376436.1	-	4	1383	c.844C>T	c.(844-846)Cat>Tat	p.H282Y	ZNF337_ENST00000538750.1_Missense_Mutation_p.H250Y|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.H282Y					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTCTCTCATGCACAGTGAGG	0.502													False	0	False	20:25657080	0	A	25657080	G	A	25657080	3	1	88	1	0	0	0	0	1	0	0	0	17936	1319	46	2	1415	2	ZNF337	20	25657080	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	25657080	37368440	19325	27037											
DEFB119	245932	broad.mit.edu	37	chr20	29965236	29965236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgcatcgaaggatgtggCgtttgcctgccaaaggaaaa	12	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:29965236C>T	ENST00000376321.3	-	2	187	c.68G>A	c.(67-69)cGc>cAc	p.R23H	DEFB119_ENST00000339144.3_Silent_p.T36T|DEFB119_ENST00000492344.1_5'UTR	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	23					defense response to bacterium	extracellular region		p.T36T(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGATGTGGCGTTTGCCTGC	0.433													False	0	False	20:29965236	0	T	29965236	C	T	29965236	3	4	88	1	0	0	0	0	1	0	0	0	4436	768	27	1	190	1	DEFB119	20	29965236	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4308156	29965236	33060284	19326	27038											
REM1	28954	broad.mit.edu	37	chr20	30064336	30064336	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccccacggggccaccagCctggccgcctgagcacagtg	13	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30064336C>A	ENST00000201979.2	+	2	381	c.88C>A	c.(88-90)Cct>Act	p.P30T	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	30					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGGCCACCAGCCTGGCCGCCT	0.657													False	0	False	20:30064336	0	A	30064336	C	A	30064336	3	1	88	1	0	0	0	0	1	0	0	0	13301	739	26	3	90	3	REM1	20	30064336	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99100	30064336	32961184	19327	27039											
COX4I2	84701	broad.mit.edu	37	chr20	30227779	30227779	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctacaccaactgctatgcCcagcgctactaccccatgcc	5	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30227779C>A	ENST00000376075.3	+	3	201	c.126C>A	c.(124-126)gcC>gcA	p.A42A	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	42					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			ACTGCTATGCCCAGCGCTACT	0.597													False	0	True	20:30227779	0	A	30227779	C	A	30227779	2	1	88	1	0	0	0	0	0	0	0	1	3793	610	22	3		3	COX4I2	20	30227779	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163443	30227779	32797741	19328	27040											
COX4I2	84701	broad.mit.edu	37	chr20	30232619	30232619	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgagcggaaagcccagcAgctgcagcgcatgctggaca	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30232619A>C	ENST00000376075.3	+	5	503	c.428A>C	c.(427-429)cAg>cCg	p.Q143P	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	143					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AAAGCCCAGCAGCTGCAGCGC	0.572													False	0	False	20:30232619	0	C	30232619	A	C	30232619	3	2	88	1	0	0	0	0	1	0	0	0	3793	188	7	4	442	4	COX4I2	20	30232619	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4840	30232619	32792901	19329	27041											
TPX2	22974	broad.mit.edu	37	chr20	30371596	30371596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacctgtgaaaccacccaccGagcctattggctttgatttg	8	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30371596G>A	ENST00000340513.4	+	13	1921	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	TPX2_ENST00000300403.6_Missense_Mutation_p.E429K			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	429					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACCACCCACCGAGCCTATTGG	0.428													False	0	True	20:30371596	0	A	30371596	G	A	30371596	3	1	88	1	0	0	0	0	1	0	0	0	16515	1059	37	1	1323	1	TPX2	20	30371596	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138977	30371596	32653924	19330	27042											
TPX2	22974	broad.mit.edu	37	chr20	30388825	30388825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtctggagataaagtcaaGtgaccagcctctgactgtgc	13	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30388825G>A	ENST00000340513.4	+	19	2822	c.2294G>A	c.(2293-2295)aGt>aAt	p.S765N	TPX2_ENST00000300403.6_Missense_Mutation_p.S729N			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	729					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATAAAGTCAAGTGACCAGCCT	0.502													False	0	False	20:30388825	0	A	30388825	G	A	30388825	3	1	88	1	0	0	0	0	1	0	0	0	16515	1029	36	2	2248	2	TPX2	20	30388825	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17229	30388825	32636695	19331	27043											
MYLK2	85366	broad.mit.edu	37	chr20	30411332	30411332	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccgcatggtggagctgagGaccgggaatgtcagcagtga	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30411332G>A	ENST00000375994.2	+	4	1098	c.825G>A	c.(823-825)agG>agA	p.R275R	MYLK2_ENST00000375985.4_Silent_p.R275R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	275					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGAGCTGAGGACCGGGAATG	0.622											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	20:30411332	0	A	30411332	G	A	30411332	2	1	88	1	0	0	0	0	0	0	0	1	10124	1165	41	2		2	MYLK2	20	30411332	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22507	30411332	32614188	19332	27044											
MYLK2	85366	broad.mit.edu	37	chr20	30418629	30418629	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttctcctcagccagagaAcatcctgtgtgtcaacacca	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30418629A>C	ENST00000375994.2	+	8	1505	c.1232A>C	c.(1231-1233)aAc>aCc	p.N411T	MYLK2_ENST00000375985.4_Missense_Mutation_p.N411T|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	411	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGCCAGAGAACATCCTGTGT	0.622													False	0	False	20:30418629	0	C	30418629	A	C	30418629	3	2	88	1	0	0	0	0	1	0	0	0	10124	43	2	4	1262	4	MYLK2	20	30418629	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7297	30418629	32606891	19333	27045											
MYLK2	85366	broad.mit.edu	37	chr20	30418685	30418685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatcattgactttggcctgGcacggaggtaccacctgggt	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30418685G>T	ENST00000375994.2	+	8	1561	c.1288G>T	c.(1288-1290)Gca>Tca	p.A430S	MYLK2_ENST00000375985.4_Missense_Mutation_p.A430S|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	430	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTTGGCCTGGCACGGAGGTA	0.622													False	0	False	20:30418685	0	T	30418685	G	T	30418685	3	4	88	1	0	0	0	0	1	0	0	0	10124	1203	42	3	1318	3	MYLK2	20	30418685	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56	30418685	32606835	19334	27046											
MYLK2	85366	broad.mit.edu	37	chr20	30419645	30419645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttgtctccaacctcatcGtcaaggaccagaggtgaggc	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30419645G>A	ENST00000375994.2	+	10	1837	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	MYLK2_ENST00000375985.4_Missense_Mutation_p.V522I|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	522	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAACCTCATCGTCAAGGACCA	0.527													False	0	False	20:30419645	0	A	30419645	G	A	30419645	3	1	88	1	0	0	0	0	1	0	0	0	10124	1145	40	1	1602	1	MYLK2	20	30419645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	960	30419645	32605875	19335	27047											
DUSP15	128853	broad.mit.edu	37	chr20	30436230	30436230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggtacaagaagaggaagCggctcgcttaggatggaggc	18	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30436230C>T	ENST00000278979.3	-	10	941	c.865G>A	c.(865-867)Gct>Act	p.A289T				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	289						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAAGAGGAAGCGGCTCGCTTA	0.622													False	0	False	20:30436230	0	T	30436230	C	T	30436230	3	4	88	1	0	0	0	0	1	0	0	0	4845	783	27	1		1	DUSP15	20	30436230	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16585	30436230	32589290	19336	27048											
DUSP15	128853	broad.mit.edu	37	chr20	30452778	30452778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtacctcaggggtatcagCgaccgggatgcgaaggtagg	18	8	2	0	rs148170076		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30452778C>T	ENST00000278979.3	-	4	233	c.157G>A	c.(157-159)Gct>Act	p.A53T	DUSP15_ENST00000339738.5_Missense_Mutation_p.A56T|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000375966.4_Missense_Mutation_p.A53T|DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	53						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGGGTATCAGCGACCGGGATG	0.582													False	0	False	20:30452778	0	T	30452778	C	T	30452778	3	4	88	1	0	0	0	0	1	0	0	0	4845	768	27	1	557	1	DUSP15	20	30452778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16548	30452778	32572742	19337	27049											
TTLL9	164395	broad.mit.edu	37	chr20	30486338	30486338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactcatggacgtccttcGccacaggccaggatgggtgg	13	13	1	0	rs147502895	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30486338G>A	ENST00000375938.4	+	4	429	c.176G>A	c.(175-177)cGc>cAc	p.R59H	TTLL9_ENST00000310998.4_Missense_Mutation_p.R9H|TTLL9_ENST00000535842.1_Missense_Mutation_p.R59H|TTLL9_ENST00000375934.4_Missense_Mutation_p.R41H|TTLL9_ENST00000375922.4_Missense_Mutation_p.R9H|TTLL9_ENST00000375921.2_Missense_Mutation_p.R9H			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	59	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GACGTCCTTCGCCACAGGCCA	0.522													False	0	False	20:30486338	0	A	30486338	G	A	30486338	3	1	88	1	0	0	0	0	1	0	0	0	16818	1087	38	1	186	1	TTLL9	20	30486338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33560	30486338	32539182	19338	27050											
TM9SF4	9777	broad.mit.edu	37	chr20	30747903	30747903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcatggtgtacttccagCtgtgtgcagaggtgaggaga	15	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30747903C>T	ENST00000217315.5	+	16	1967	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	TM9SF4_ENST00000398022.2_Silent_p.L560L			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	560						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTACTTCCAGCTGTGTGCAGA	0.537													False	0	True	20:30747903	0	T	30747903	C	T	30747903	2	4	88	1	0	0	0	0	0	0	0	1	16062	796	28	2		2	TM9SF4	20	30747903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261565	30747903	32277617	19339	27051											
ASXL1	171023	broad.mit.edu	37	chr20	31021562	31021562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtggatcaggaacccaagGatcagaagaggaaatccttt	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31021562G>A	ENST00000375687.4	+	12	1985	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	ASXL1_ENST00000306058.5_Missense_Mutation_p.D516N	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	521					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGAACCCAAGGATCAGAAGAG	0.522			"F, N, Mis"		"MDS, CMML"								False	0	False	20:31021562	0	A	31021562	G	A	31021562	3	1	88	1	0	0	0	0	1	0	0	0	1070	1174	41	2	1613	2	ASXL1	20	31021562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273659	31021562	32003958	19340	27052											
ASXL1	171023	broad.mit.edu	37	chr20	31024411	31024411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcagagcaatgttacagGccaagggaagaagctttttg	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31024411G>A	ENST00000375687.4	+	13	4320	c.3896G>A	c.(3895-3897)gGc>gAc	p.G1299D	ASXL1_ENST00000306058.5_Missense_Mutation_p.G1294D	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1299					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AATGTTACAGGCCAAGGGAAG	0.557			"F, N, Mis"		"MDS, CMML"								False	0	False	20:31024411	0	A	31024411	G	A	31024411	3	1	88	1	0	0	0	0	1	0	0	0	1070	1203	42	2	3952	2	ASXL1	20	31024411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2849	31024411	32001109	19341	27053											
DNMT3B	1789	broad.mit.edu	37	chr20	31380565	31380565	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagggcctcaaacccaacaAcacgcaaccaggtgggaatg	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31380565A>C	ENST00000328111.2	+	9	1376	c.1055A>C	c.(1054-1056)aAc>aCc	p.N352T	DNMT3B_ENST00000353855.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000344505.4_Missense_Mutation_p.N352T|DNMT3B_ENST00000348286.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000456297.2_Missense_Mutation_p.N276T|DNMT3B_ENST00000443239.3_Missense_Mutation_p.N310T|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000201963.3_Missense_Mutation_p.N364T	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	352					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAACCCAACAACACGCAACCA	0.637													False	0	False	20:31380565	0	C	31380565	A	C	31380565	3	2	88	1	0	0	0	0	1	0	0	0	4707	43	2	4	1125	4	DNMT3B	20	31380565	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	356154	31380565	31644955	19342	27054											
DNMT3B	1789	broad.mit.edu	37	chr20	31387092	31387092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattcccgcagcccgaaggCggcccattcgagtcctgtca	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31387092C>T	ENST00000328111.2	+	16	2038	c.1717C>T	c.(1717-1719)Cgg>Tgg	p.R573W	DNMT3B_ENST00000353855.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R553W|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R477W|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R511W|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R565W	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	573					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCCCGAAGGCGGCCCATTCG	0.582													False	0	False	20:31387092	0	T	31387092	C	T	31387092	3	4	88	1	0	0	0	0	1	0	0	0	4707	759	27	1	1815	1	DNMT3B	20	31387092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6527	31387092	31638428	19343	27055											
MAPRE1	22919	broad.mit.edu	37	chr20	31413783	31413783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaccagtgataacctaagtcGacatgacatgctggcctgga	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31413783G>A	ENST00000375571.5	+	2	189	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	17	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AACCTAAGTCGACATGACATG	0.443													False	0	True	20:31413783	0	A	31413783	G	A	31413783	3	1	88	1	0	0	0	0	1	0	0	0	9361	1058	37	1	52	1	MAPRE1	20	31413783	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26691	31413783	31611737	19344	27056											
MAPRE1	22919	broad.mit.edu	37	chr20	31424452	31424452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgcagataattcctgtgGacaaattagtaaaaggaaag	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31424452G>A	ENST00000375571.5	+	4	419	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	94	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AATTCCTGTGGACAAATTAGT	0.363													False	0	False	20:31424452	0	A	31424452	G	A	31424452	3	1	88	1	0	0	0	0	1	0	0	0	9361	1174	41	2	290	2	MAPRE1	20	31424452	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10669	31424452	31601068	19345	27057											
MAPRE1	22919	broad.mit.edu	37	chr20	31434492	31434492	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctacttcggaaagctacgGaacattgaattgatttgcca	8	8	1	2	rs139716054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31434492G>A	ENST00000375571.5	+	6	805	c.666G>A	c.(664-666)cgG>cgA	p.R222R	RP5-1085F17.4_ENST00000565572.1_RNA	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	222	APC-binding.|DCTN1-binding.|EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GAAAGCTACGGAACATTGAAT	0.423													False	0	False	20:31434492	0	A	31434492	G	A	31434492	2	1	88	1	0	0	0	0	0	0	0	1	9361	1161	41	2		2	MAPRE1	20	31434492	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10040	31434492	31591028	19346	27058											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31973465	31973465	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactcttcacctgctcagaAagcttcttcacttcctctag	5	14	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31973465A>G	ENST00000357886.4	-	7	1020	c.867T>C	c.(865-867)ctT>ctC	p.L289L	CDK5RAP1_ENST00000544843.1_Silent_p.L289L|CDK5RAP1_ENST00000339269.5_Silent_p.L289L|CDK5RAP1_ENST00000346416.2_Silent_p.L289L|CDK5RAP1_ENST00000473997.1_Silent_p.L199L|CDK5RAP1_ENST00000477105.1_5'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	289					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CCTGCTCAGAAAGCTTCTTCA	0.498													False	0	True	20:31973465	0	G	31973465	A	G	31973465	2	3	88	1	0	0	0	0	0	0	0	1	3168	1	1	4		4	CDK5RAP1	20	31973465	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	538973	31973465	31052055	19347	27059											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31979986	31979986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaacccgggagcggggcCgccttgtcttcaaggcttta	15	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31979986C>T	ENST00000357886.4	-	5	659	c.506G>A	c.(505-507)cGg>cAg	p.R169Q	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R79Q|CDK5RAP1_ENST00000477105.1_5'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	169	MTTase N-terminal.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GGAGCGGGGCCGCCTTGTCTT	0.458													False	0	False	20:31979986	0	T	31979986	C	T	31979986	3	4	88	1	0	0	0	0	1	0	0	0	3168	652	23	1	1297	1	CDK5RAP1	20	31979986	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6521	31979986	31045534	19348	27060											
SNTA1	6640	broad.mit.edu	37	chr20	32005695	32005695	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggtcccaccagtagagttCttgaaatacggtgagacgtc	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32005695C>A	ENST00000217381.2	-	3	802	c.531G>T	c.(529-531)aaG>aaT	p.K177N		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	177	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CAGTAGAGTTCTTGAAATACG	0.567													False	0	False	20:32005695	0	A	32005695	C	A	32005695	3	1	88	1	0	0	0	0	1	0	0	0	14951	912	32	3	1010	3	SNTA1	20	32005695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25709	32005695	31019825	19349	27061											
CBFA2T2	9139	broad.mit.edu	37	chr20	32199034	32199034	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccagccacttgtggtgctCgacaactcagcaagttgaaa	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32199034C>T	ENST00000492345.1	+	5	938	c.253C>T	c.(253-255)Cga>Tga	p.R85*	CBFA2T2_ENST00000344201.3_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000342704.6_Nonsense_Mutation_p.R105*|CBFA2T2_ENST00000397798.2_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.R124*|CBFA2T2_ENST00000346541.3_Nonsense_Mutation_p.R114*|CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.R114*			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	114	Pro-rich.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TTGTGGTGCTCGACAACTCAG	0.517													False	0	False	20:32199034	0	T	32199034	C	T	32199034	4	4	88	1	0	0	0	0	0	1	0	0	2717	876	31	1	388	1	CBFA2T2	20	32199034	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193339	32199034	30826486	19350	27062											
CBFA2T2	9139	broad.mit.edu	37	chr20	32212656	32212656	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagccctgctcctcggcAcagtcctgctctcactgtgc	8	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212656A>G	ENST00000492345.1	+	8	1404	c.719A>G	c.(718-720)cAc>cGc	p.H240R	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.H260R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.H279R|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.H269R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.H240R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.H269R			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	269						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GCTCCTCGGCACAGTCCTGCT	0.507													False	0	False	20:32212656	0	G	32212656	A	G	32212656	3	3	88	1	0	0	0	0	1	0	0	0	2717	159	6	4	866	4	CBFA2T2	20	32212656	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13622	32212656	30812864	19351	27063											
CBFA2T2	9139	broad.mit.edu	37	chr20	32212784	32212784	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcgggaacccaacaagatgCtagagcatcgagaagttcgt	11	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212784C>A	ENST00000492345.1	+	8	1532	c.847C>A	c.(847-849)Cta>Ata	p.L283I	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.L303I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L322I|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.L312I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L283I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L312I			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	312						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CAACAAGATGCTAGAGCATCG	0.473													False	0	False	20:32212784	0	A	32212784	C	A	32212784	3	1	88	1	0	0	0	0	1	0	0	0	2717	796	28	3	994	3	CBFA2T2	20	32212784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128	32212784	30812736	19352	27064											
CBFA2T2	9139	broad.mit.edu	37	chr20	32232319	32232319	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagggccggccgctgcttcCtgtaggcaggggctcctctg	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32232319C>G	ENST00000492345.1	+	13	2280	c.1595C>G	c.(1594-1596)cCt>cGt	p.P532R	CBFA2T2_ENST00000543126.1_Missense_Mutation_p.P109R|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.P552R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.P571R|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.P561R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.P532R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.P561R			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	561						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CCGCTGCTTCCTGTAGGCAGG	0.677													False	0	False	20:32232319	0	G	32232319	C	G	32232319	3	3	88	1	0	0	0	0	1	0	0	0	2717	681	24	5	1762	5	CBFA2T2	20	32232319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19535	32232319	30793201	19353	27065											
ZNF341	84905	broad.mit.edu	37	chr20	32333101	32333101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccaactcctgccaatcGccaggtatttgttcatttat	7	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32333101G>A	ENST00000375200.1	+	3	700	c.335G>A	c.(334-336)cGc>cAc	p.R112H	ZNF341_ENST00000342427.2_Missense_Mutation_p.R112H	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCTGCCAATCGCCAGGTATTT	0.547													False	0	False	20:32333101	0	A	32333101	G	A	32333101	3	1	88	1	0	0	0	0	1	0	0	0	17940	1087	38	1	345	1	ZNF341	20	32333101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100782	32333101	30692419	19354	27066											
AHCY	191	broad.mit.edu	37	chr20	32879233	32879233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcggctcaccttggtgaCggagtcattgacattgatgg	12	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32879233C>T	ENST00000538132.1	-	5	852	c.466G>A	c.(466-468)Gtc>Atc	p.V156I	AHCY_ENST00000217426.2_Missense_Mutation_p.V184I	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	184					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCTTGGTGACGGAGTCATTG	0.582													False	0	False	20:32879233	0	T	32879233	C	T	32879233	3	4	88	1	0	0	0	0	1	0	0	0	409	536	19	1	772	1	AHCY	20	32879233	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	546132	32879233	30146287	19355	27067											
AHCY	191	broad.mit.edu	37	chr20	32883326	32883326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcccgcatacgcatcaGgcccggcatctcgttctcag	9	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32883326G>T	ENST00000538132.1	-	2	396	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000217426.2_Missense_Mutation_p.L32M	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	32					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATACGCATCAGGCCCGGCATC	0.652													False	0	False	20:32883326	0	T	32883326	G	T	32883326	3	4	88	1	0	0	0	0	1	0	0	0	409	991	35	3	1240	3	AHCY	20	32883326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4093	32883326	30142194	19356	27068											
ITCH	83737	broad.mit.edu	37	chr20	33045246	33045246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcgtcaaccacaacacacGaattacacaatgggaagacc	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33045246G>A	ENST00000374864.4	+	13	1475	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Missense_Mutation_p.R311Q|ITCH_ENST00000262650.6_Missense_Mutation_p.R462Q	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	462	Required for interaction with FYN.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CACAACACACGAATTACACAA	0.398													False	0	True	20:33045246	0	A	33045246	G	A	33045246	3	1	88	1	0	0	0	0	1	0	0	0	7918	1058	37	1	1304	1	ITCH	20	33045246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161920	33045246	29980274	19357	27069											
ITCH	83737	broad.mit.edu	37	chr20	33057852	33057852	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaacccttgttcttcctcaGagacaatggacctcagatag	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33057852G>A	ENST00000374864.4	+	15	1637		c.e15-1		ITCH_ENST00000483727.1_Splice_Site|ITCH_ENST00000535650.1_Splice_Site|ITCH_ENST00000262650.6_Splice_Site	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase						apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTCTTCCTCAGAGACAATGGA	0.423													False	0	False	20:33057852	0	A	33057852	G	A	33057852	5	1	88	1	0	0	0	0	0	0	1	0	7918	956	33	2	1474	2	ITCH	20	33057852	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12606	33057852	29967668	19358	27070											
MAP1LC3A	84557	broad.mit.edu	37	chr20	33147545	33147545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgccggctgcaggcgccGcctgcagctgaaccccacgc	12	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33147545G>A	ENST00000360668.3	+	4	970	c.209G>A	c.(208-210)cGc>cAc	p.R70H	MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.R70H|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.R74H			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	70					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						TGCAGGCGCCGCCTGCAGCTG	0.627													False	0	False	20:33147545	0	A	33147545	G	A	33147545	3	1	88	1	0	0	0	0	1	0	0	0	9297	1087	38	1	279	1	MAP1LC3A	20	33147545	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89693	33147545	29877975	19359	27071											
TP53INP2	58476	broad.mit.edu	37	chr20	33296666	33296666	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctcatcattgacctgccGggtgaggcctgggtctgtct	14	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33296666G>A	ENST00000374810.3	+	3	512	c.123G>A	c.(121-123)ccG>ccA	p.P41P	TP53INP2_ENST00000374809.2_Splice_Site_p.P41P|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	41						nucleus				endometrium(1)|urinary_tract(1)	2						TTGACCTGCCGGGTGAGGCCT	0.667													False	0	True	20:33296666	0	A	33296666	G	A	33296666	5	1	88	1	0	0	0	0	0	0	1	0	16472	1130	39	1	125	1	TP53INP2	20	33296666	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149121	33296666	29728854	19360	27072											
TP53INP2	58476	broad.mit.edu	37	chr20	33298084	33298084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcagcttcatctaccaGccgtgccagcgccagttcaa	9	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33298084G>A	ENST00000374810.3	+	5	1025	c.636G>A	c.(634-636)caG>caA	p.Q212Q	TP53INP2_ENST00000374809.2_Silent_p.Q212Q|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	212						nucleus				endometrium(1)|urinary_tract(1)	2						TCATCTACCAGCCGTGCCAGC	0.697													False	0	False	20:33298084	0	A	33298084	G	A	33298084	2	1	88	1	0	0	0	0	0	0	0	1	16472	962	34	2		2	TP53INP2	20	33298084	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1418	33298084	29727436	19361	27073											
NCOA6	23054	broad.mit.edu	37	chr20	33330454	33330454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctagatgtctgggttggCgcagccacatttgggaagtg	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33330454C>T	ENST00000374796.2	-	12	6176	c.3606G>A	c.(3604-3606)gcG>gcA	p.A1202A	NCOA6_ENST00000359003.2_Silent_p.A1202A			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1202	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCTGGGTTGGCGCAGCCACAT	0.577													False	0	False	20:33330454	0	T	33330454	C	T	33330454	2	4	88	1	0	0	0	0	0	0	0	1	10301	755	27	1		1	NCOA6	20	33330454	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32370	33330454	29695066	19362	27074											
NCOA6	23054	broad.mit.edu	37	chr20	33330933	33330933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaagcctaactgatttggGatcctgctgcatcatgagca	11	9	1	2	rs142432255		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33330933G>A	ENST00000374796.2	-	12	5697	c.3127C>T	c.(3127-3129)Ccc>Tcc	p.P1043S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1043S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1043	CREBBP-binding region.|NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACTGATTTGGGATCCTGCTGC	0.562													False	0	True	20:33330933	0	A	33330933	G	A	33330933	3	1	88	1	0	0	0	0	1	0	0	0	10301	1174	41	2	3084	2	NCOA6	20	33330933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	479	33330933	29694587	19363	27075											
NCOA6	23054	broad.mit.edu	37	chr20	33345486	33345486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtcttgcctggagttgCtgttgcattgggccgggcaa	16	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33345486C>T	ENST00000374796.2	-	8	3635	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q	NCOA6_ENST00000359003.2_Silent_p.Q355Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	355	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTGGAGTTGCTGTTGCATTG	0.592													False	0	False	20:33345486	0	T	33345486	C	T	33345486	2	4	88	1	0	0	0	0	0	0	0	1	10301	796	28	2		2	NCOA6	20	33345486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14553	33345486	29680034	19364	27076											
GGT7	2686	broad.mit.edu	37	chr20	33447341	33447341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacctcagccaggtcgggccGatgcagcaacgagccaggta	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33447341G>A	ENST00000336431.5	-	7	963	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	307					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGGTCGGGCCGATGCAGCAAC	0.662													False	0	False	20:33447341	0	A	33447341	G	A	33447341	3	1	88	1	0	0	0	0	1	0	0	0	6409	1057	37	1	1105	1	GGT7	20	33447341	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101855	33447341	29578179	19365	27077											
GGT7	2686	broad.mit.edu	37	chr20	33450737	33450737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgaagtgcagcgggcaGcatcggtcaccacggcaccc	13	15	1	1	rs149556789		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33450737G>T	ENST00000336431.5	-	3	481	c.437C>A	c.(436-438)gCt>gAt	p.A146D		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	146					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCAGCGGGCAGCATCGGTCAC	0.617													False	0	False	20:33450737	0	T	33450737	G	T	33450737	3	4	88	1	0	0	0	0	1	0	0	0	6409	971	34	3	1603	3	GGT7	20	33450737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3396	33450737	29574783	19366	27078											
ACSS2	55902	broad.mit.edu	37	chr20	33509141	33509141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgccccaggcatagccGggcatccttgcaggtgttag	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33509141G>A	ENST00000360596.2	+	11	1497	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.R442Q|ACSS2_ENST00000336325.4_Missense_Mutation_p.R379Q	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	429					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGCATAGCCGGGCATCCTTG	0.592													False	0	True	20:33509141	0	A	33509141	G	A	33509141	3	1	88	1	0	0	0	0	1	0	0	0	189	1116	39	1	1371	1	ACSS2	20	33509141	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58404	33509141	29516379	19367	27079											
GSS	2937	broad.mit.edu	37	chr20	33517274	33517274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagggctgccaggccgtaGcaggcaattctcaaaaggct	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33517274G>A	ENST00000216951.2	-	12	1329	c.1231C>T	c.(1231-1233)Cta>Tta	p.L411L	GSS_ENST00000451957.2_Silent_p.L300L|GSS_ENST00000541098.1_Silent_p.L283L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	411					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CCAGGCCGTAGCAGGCAATTC	0.547													False	0	False	20:33517274	0	A	33517274	G	A	33517274	2	1	88	1	0	0	0	0	0	0	0	1	6876	962	34	2		2	GSS	20	33517274	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8133	33517274	29508246	19368	27080											
GSS	2937	broad.mit.edu	37	chr20	33523406	33523406	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtactgacgaggcatgtaGccatcccggaagtaaaccac	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33523406G>T	ENST00000216951.2	-	9	905	c.807C>A	c.(805-807)ggC>ggA	p.G269G	GSS_ENST00000451957.2_Silent_p.G158G|GSS_ENST00000541098.1_Silent_p.G141G	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	269	Substrate binding.				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GAGGCATGTAGCCATCCCGGA	0.483													False	0	False	20:33523406	0	T	33523406	G	T	33523406	2	4	88	1	0	0	0	0	0	0	0	1	6876	958	34	3		3	GSS	20	33523406	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6132	33523406	29502114	19369	27081											
MYH7B	57644	broad.mit.edu	37	chr20	33565843	33565843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacttggggagtctgcccGctacctccgccagggctacc	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33565843G>A	ENST00000262873.7	+	3	253	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	12						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGTCTGCCCGCTACCTCCGC	0.607													False	0	True	20:33565843	0	A	33565843	G	A	33565843	3	1	88	1	0	0	0	0	1	0	0	0	10107	1087	38	1	171	1	MYH7B	20	33565843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42437	33565843	29459677	19370	27082											
MYH7B	57644	broad.mit.edu	37	chr20	33567510	33567510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcccatgaacccgcctcGcttcgacttactggaggaca	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33567510G>A	ENST00000262873.7	+	5	463	c.371G>A	c.(370-372)cGc>cAc	p.R124H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	82	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AACCCGCCTCGCTTCGACTTA	0.632													False	0	False	20:33567510	0	A	33567510	G	A	33567510	3	1	88	1	0	0	0	0	1	0	0	0	10107	1087	38	1	389	1	MYH7B	20	33567510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1667	33567510	29458010	19371	27083											
MYH7B	57644	broad.mit.edu	37	chr20	33575697	33575697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcggggttctggacatcGctgggtttgagatctttgag	14	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33575697G>A	ENST00000262873.7	+	16	1614	c.1522G>A	c.(1522-1524)Gct>Act	p.A508T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	466	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCTGGACATCGCTGGGTTTGA	0.607													False	0	False	20:33575697	0	A	33575697	G	A	33575697	3	1	88	1	0	0	0	0	1	0	0	0	10107	1087	38	1	1584	1	MYH7B	20	33575697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8187	33575697	29449823	19372	27084											
MYH7B	57644	broad.mit.edu	37	chr20	33577604	33577604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaggcctcagacgccaGcttccgggccaagctctacg	10	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33577604G>T	ENST00000262873.7	+	18	1867	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	550	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCAGACGCCAGCTTCCGGGCC	0.592													False	0	False	20:33577604	0	T	33577604	G	T	33577604	3	4	88	1	0	0	0	0	1	0	0	0	10107	971	34	3	1845	3	MYH7B	20	33577604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1907	33577604	29447916	19373	27085											
MYH7B	57644	broad.mit.edu	37	chr20	33578604	33578604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacttcgtccgctgcattGtccccaacgagaacaaaacc	6	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33578604G>A	ENST00000262873.7	+	21	2259	c.2167G>A	c.(2167-2169)Gtc>Atc	p.V723I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	681	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCGCTGCATTGTCCCCAACGA	0.627													False	0	False	20:33578604	0	A	33578604	G	A	33578604	3	1	88	1	0	0	0	0	1	0	0	0	10107	1377	48	2	2249	2	MYH7B	20	33578604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1000	33578604	29446916	19374	27086											
MYH7B	57644	broad.mit.edu	37	chr20	33578879	33578879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggggatccggatctgccGccaagggttccccaacaggt	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33578879G>A	ENST00000262873.7	+	22	2356	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	713	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGGATCTGCCGCCAAGGGTTC	0.647													False	0	False	20:33578879	0	A	33578879	G	A	33578879	3	1	88	1	0	0	0	0	1	0	0	0	10107	1087	38	1	2350	1	MYH7B	20	33578879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275	33578879	29446641	19375	27087											
MYH7B	57644	broad.mit.edu	37	chr20	33582190	33582190	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagaagaatgacctggccCtgcagctgcaggctgtgagt	15	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33582190C>A	ENST00000262873.7	+	25	2904	c.2812C>A	c.(2812-2814)Ctg>Atg	p.L938M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	896						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGACCTGGCCCTGCAGCTGCA	0.672													False	0	True	20:33582190	0	A	33582190	C	A	33582190	3	1	88	1	0	0	0	0	1	0	0	0	10107	680	24	3	2910	3	MYH7B	20	33582190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3311	33582190	29443330	19376	27088											
MYH7B	57644	broad.mit.edu	37	chr20	33588098	33588098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccctcctcccataggcGcaaccaccagcgagctgtgg	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33588098G>A	ENST00000262873.7	+	37	5002	c.4910G>A	c.(4909-4911)cGc>cAc	p.R1637H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1595						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCCCATAGGCGCAACCACCAG	0.582													False	0	False	20:33588098	0	A	33588098	G	A	33588098	3	1	88	1	0	0	0	0	1	0	0	0	10107	1087	38	1	5056	1	MYH7B	20	33588098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5908	33588098	29437422	19377	27089											
TRPC4AP	26133	broad.mit.edu	37	chr20	33591414	33591414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgttgaggcagctgacGttctcctgcaaggccacagg	14	11	1	2	rs145462116	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33591414G>A	ENST00000252015.2	-	18	2144	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	TRPC4AP_ENST00000539834.1_Silent_p.N287N|TRPC4AP_ENST00000432634.2_Silent_p.N646N|TRPC4AP_ENST00000451813.2_Silent_p.N677N			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	685					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGCAGCTGACGTTCTCCTGCA	0.667													False	0	False	20:33591414	0	A	33591414	G	A	33591414	2	1	88	1	0	0	0	0	0	0	0	1	16664	1136	40	1		1	TRPC4AP	20	33591414	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3316	33591414	29434106	19378	27090											
EDEM2	55741	broad.mit.edu	37	chr20	33719541	33719541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccagccccgatgcctgcgtCctgggccacccacttgccag	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33719541C>T	ENST00000540582.1	-	11	1346	c.625G>A	c.(625-627)Gac>Aac	p.D209N	EDEM2_ENST00000374491.3_Missense_Mutation_p.D213N|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000374492.3_Missense_Mutation_p.D250N|EDEM2_ENST00000541621.1_Missense_Mutation_p.D29N			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	250					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATGCCTGCGTCCTGGGCCACC	0.557													False	0	False	20:33719541	0	T	33719541	C	T	33719541	3	4	88	1	0	0	0	0	1	0	0	0	4942	855	30	2	1008	2	EDEM2	20	33719541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128127	33719541	29305979	19379	27091											
EDEM2	55741	broad.mit.edu	37	chr20	33725733	33725733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccattctcaggagaggcccgGaacagggccatccagcctct	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33725733G>A	ENST00000540582.1	-	9	1038	c.317C>T	c.(316-318)tCc>tTc	p.S106F	EDEM2_ENST00000374491.3_Missense_Mutation_p.S110F|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374492.3_Missense_Mutation_p.S147F|EDEM2_ENST00000541621.1_5'UTR			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	147					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GAGAGGCCCGGAACAGGGCCA	0.577													False	0	False	20:33725733	0	A	33725733	G	A	33725733	3	1	88	1	0	0	0	0	1	0	0	0	4942	1174	41	2	1324	2	EDEM2	20	33725733	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6192	33725733	29299787	19380	27092											
MMP24	10893	broad.mit.edu	37	chr20	33834760	33834760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagttttacgggatcccgGtcaccggtgtgttggatcag	14	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33834760G>T	ENST00000246186.6	+	2	449	c.364G>T	c.(364-366)Gtc>Ttc	p.V122F	MMP24-AS1_ENST00000433764.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000456350.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	122					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGGGATCCCGGTCACCGGTGT	0.507													False	0	False	20:33834760	0	T	33834760	G	T	33834760	3	4	88	1	0	0	0	0	1	0	0	0	9728	1261	44	3	120	3	MMP24	20	33834760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109027	33834760	29190760	19381	27093											
FAM83C	128876	broad.mit.edu	37	chr20	33874450	33874450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcatccctgaccaggtcaCtgttaccaccattgagatgg	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33874450C>A	ENST00000374408.3	-	4	2228	c.2132G>T	c.(2131-2133)aGt>aTt	p.S711I		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	711										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACCAGGTCACTGTTACCACC	0.562													False	0	False	20:33874450	0	A	33874450	C	A	33874450	3	1	88	1	0	0	0	0	1	0	0	0	5675	565	20	3	115	3	FAM83C	20	33874450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39690	33874450	29151070	19382	27094											
FAM83C	128876	broad.mit.edu	37	chr20	33879692	33879692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggtggggctgaagcctGtggcctgtggcacctcgggc	18	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33879692G>A	ENST00000374408.3	-	1	512	c.416C>T	c.(415-417)aCa>aTa	p.T139I		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	139										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCTGAAGCCTGTGGCCTGTGG	0.617													False	0	True	20:33879692	0	A	33879692	G	A	33879692	3	1	88	1	0	0	0	0	1	0	0	0	5675	1377	48	2	1843	2	FAM83C	20	33879692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5242	33879692	29145828	19383	27095											
FAM83C	128876	broad.mit.edu	37	chr20	33879849	33879849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctgagctcagggccccCgcgcacatggctggtcatgt	13	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33879849C>T	ENST00000374408.3	-	1	355	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	87										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCAGGGCCCCCGCGCACATGG	0.677													False	0	True	20:33879849	0	T	33879849	C	T	33879849	3	4	88	1	0	0	0	0	1	0	0	0	5675	652	23	1	2000	1	FAM83C	20	33879849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157	33879849	29145671	19384	27096											
GDF5	8200	broad.mit.edu	37	chr20	34025405	34025405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcttgggttcagggccgcCcggtctggggggcagctttt	18	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34025405C>T	ENST00000374372.1	-	3	807	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	GDF5_ENST00000374369.3_Missense_Mutation_p.G102S			P43026	GDF5_HUMAN	growth differentiation factor 5	102					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCAGGGCCGCCCGGTCTGGGG	0.647													False	0	True	20:34025405	0	T	34025405	C	T	34025405	3	4	88	1	0	0	0	0	1	0	0	0	6361	623	22	2	1209	2	GDF5	20	34025405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145556	34025405	29000115	19385	27097											
CEP250	11190	broad.mit.edu	37	chr20	34061768	34061768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctagagcaggaggcatggCgcctgcgaagggtaaatgtg	17	7	0	1	rs151167358	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34061768C>T	ENST00000397527.1	+	14	2182	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C	CEP250_ENST00000342580.4_Missense_Mutation_p.R488C	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	488	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAGGCATGGCGCCTGCGAAG	0.627													False	0	False	20:34061768	0	T	34061768	C	T	34061768	3	4	88	1	0	0	0	0	1	0	0	0	3275	768	27	1	1504	1	CEP250	20	34061768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36363	34061768	28963752	19386	27098											
CEP250	11190	broad.mit.edu	37	chr20	34081331	34081331	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggcagcccggcagcacagaGatgaccttgctgccctccaa	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34081331G>A	ENST00000397527.1	+	23	3685	c.2965G>A	c.(2965-2967)Gat>Aat	p.D989N	CEP250_ENST00000342580.4_Missense_Mutation_p.D933N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	989	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAGCACAGAGATGACCTTGC	0.577													False	0	False	20:34081331	0	A	34081331	G	A	34081331	3	1	88	1	0	0	0	0	1	0	0	0	3275	942	33	2	3043	2	CEP250	20	34081331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19563	34081331	28944189	19387	27099											
ROMO1	140823	broad.mit.edu	37	chr20	34288758	34288758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagctgatgggcggcattgGgaaaaccatgatgcagagtg	16	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34288758G>T	ENST00000374078.1	+	3	350	c.170G>T	c.(169-171)gGg>gTg	p.G57V	ROMO1_ENST00000374077.3_Missense_Mutation_p.G57V|ROMO1_ENST00000374072.1_3'UTR|ROMO1_ENST00000397416.1_Missense_Mutation_p.G57V|ROMO1_ENST00000336695.4_Missense_Mutation_p.G57V	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1	57					cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane				cervix(1)	1						GGCGGCATTGGGAAAACCATG	0.502													False	0	True	20:34288758	0	T	34288758	G	T	34288758	3	4	88	1	0	0	0	0	1	0	0	0	13601	1232	43	3	176	3	ROMO1	20	34288758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	207427	34288758	28736762	19388	27100											
RBM39	9584	broad.mit.edu	37	chr20	34319920	34319920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttcttgagcggctccgtCgcctctctttgcttctactt	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34319920C>T	ENST00000361162.6	-	4	623	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	RBM39_ENST00000253363.6_Missense_Mutation_p.R80Q|RBM39_ENST00000528062.3_Missense_Mutation_p.R80Q|RBM39_ENST00000407261.4_5'UTR	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	80	Arg/Ser-rich (RS domain).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GCGGCTCCGTCGCCTCTCTTT	0.433													False	0	False	20:34319920	0	T	34319920	C	T	34319920	3	4	88	1	0	0	0	0	1	0	0	0	13212	884	31	1	1409	1	RBM39	20	34319920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31162	34319920	28705600	19389	27101											
EPB41L1	2036	broad.mit.edu	37	chr20	34778662	34778662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcattgaccggcctgcaCccttctttgagcgttcttcc	7	17	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34778662C>T	ENST00000338074.2	+	11	1404	c.1243C>T	c.(1243-1245)Ccc>Tcc	p.P415S	EPB41L1_ENST00000373950.2_Missense_Mutation_p.P318S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.P353S|EPB41L1_ENST00000441639.1_Missense_Mutation_p.P353S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.P384S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.P415S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	415					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCGGCCTGCACCCTTCTTTGA	0.612													False	0	True	20:34778662	0	T	34778662	C	T	34778662	3	4	88	1	0	0	0	0	1	0	0	0	5184	507	18	2	1281	2	EPB41L1	20	34778662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	458742	34778662	28246858	19390	27102											
EPB41L1	2036	broad.mit.edu	37	chr20	34782221	34782221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggatggcgagtctggggGgcaacggtcagaggctgagg	21	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34782221G>A	ENST00000338074.2	+	12	1549	c.1388G>A	c.(1387-1389)gGg>gAg	p.G463E	EPB41L1_ENST00000373950.2_Missense_Mutation_p.G366E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G401E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G401E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G432E|EPB41L1_ENST00000373941.1_Missense_Mutation_p.G463E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	463					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GAGTCTGGGGGGCAACGGTCA	0.602													False	0	True	20:34782221	0	A	34782221	G	A	34782221	3	1	88	1	0	0	0	0	1	0	0	0	5184	1232	43	2	1430	2	EPB41L1	20	34782221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3559	34782221	28243299	19391	27103											
DLGAP4	22839	broad.mit.edu	37	chr20	35068238	35068238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggactacacccccgtcagCgacagcctcaacgactccag	9	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35068238C>T	ENST00000373913.3	+	5	1803	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	DLGAP4_ENST00000373907.2_Silent_p.S441S|DLGAP4_ENST00000339266.5_Silent_p.S441S|DLGAP4_ENST00000401952.2_Silent_p.S441S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	441					cell-cell signaling	membrane	protein binding	p.S441S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCCGTCAGCGACAGCCTCA	0.632											OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	20:35068238	0	T	35068238	C	T	35068238	2	4	88	1	0	0	0	0	0	0	0	1	4592	767	27	1		1	DLGAP4	20	35068238	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286017	35068238	27957282	19392	27104											
DLGAP4	22839	broad.mit.edu	37	chr20	35128033	35128033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaagaggagcccagtcccGctaccaaattccagtccatc	7	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128033G>A	ENST00000339266.5	+	7	2053	c.2053G>A	c.(2053-2055)Gct>Act	p.A685T	DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Missense_Mutation_p.A146T|DLGAP4_ENST00000373907.2_Missense_Mutation_p.A685T|DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000401952.2_Intron			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	685					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCCCAGTCCCGCTACCAAATT	0.542													False	0	True	20:35128033	0	A	35128033	G	A	35128033	3	1	88	1	0	0	0	0	1	0	0	0	4592	1087	38	1	2198	1	DLGAP4	20	35128033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59795	35128033	27897487	19393	27105											
DLGAP4	22839	broad.mit.edu	37	chr20	35128676	35128676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggatgccaatgactcaaGctgtaagtcatctgagagga	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128676G>T	ENST00000373913.3	+	10	2645	c.2165G>T	c.(2164-2166)aGc>aTc	p.S722I	DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Missense_Mutation_p.S186I|DLGAP4_ENST00000373907.2_Missense_Mutation_p.S725I|DLGAP4_ENST00000401952.2_Missense_Mutation_p.S722I|DLGAP4_ENST00000339266.5_Missense_Mutation_p.S725I			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	725					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AATGACTCAAGCTGTAAGTCA	0.612													False	0	False	20:35128676	0	T	35128676	G	T	35128676	3	4	88	1	0	0	0	0	1	0	0	0	4592	971	34	3	2323	3	DLGAP4	20	35128676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	643	35128676	27896844	19394	27106											
DLGAP4	22839	broad.mit.edu	37	chr20	35128951	35128951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgcaggcagaaacagagCggctggaaggctggtgctgc	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128951C>T	ENST00000373913.3	+	10	2920	c.2440C>T	c.(2440-2442)Cgg>Tgg	p.R814W	DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R278W|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R817W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R814W|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R817W			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	817					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGAAACAGAGCGGCTGGAAGG	0.607													False	0	False	20:35128951	0	T	35128951	C	T	35128951	3	4	88	1	0	0	0	0	1	0	0	0	4592	759	27	1	2598	1	DLGAP4	20	35128951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275	35128951	27896569	19395	27107											
DLGAP4	22839	broad.mit.edu	37	chr20	35154346	35154346	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggatatcagcatgaagttCgatgaactctaccacctcaa	8	10	3	2	rs147941086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35154346C>T	ENST00000373913.3	+	12	3168	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Silent_p.F360F|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000373907.2_Silent_p.F899F|RP5-977B1.7_ENST00000433238.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_Silent_p.F896F|DLGAP4_ENST00000339266.5_Silent_p.F899F			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	899					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCATGAAGTTCGATGAACTCT	0.607													False	0	False	20:35154346	0	T	35154346	C	T	35154346	2	4	88	1	0	0	0	0	0	0	0	1	4592	883	31	1		1	DLGAP4	20	35154346	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25395	35154346	27871174	19396	27108											
MYL9	10398	broad.mit.edu	37	chr20	35177499	35177499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttcatccatgaggaccaCctccgggagctgctcaccac	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35177499C>T	ENST00000279022.2	+	4	470	c.366C>T	c.(364-366)caC>caT	p.H122H	MYL9_ENST00000346786.2_Silent_p.H68H|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	122	EF-hand 2.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATGAGGACCACCTCCGGGAGC	0.592													False	0	False	20:35177499	0	T	35177499	C	T	35177499	2	4	88	1	0	0	0	0	0	0	0	1	10121	506	18	2		2	MYL9	20	35177499	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23153	35177499	27848021	19397	27109											
SAMHD1	25939	broad.mit.edu	37	chr20	35547879	35547879	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgacaggcttaattccattaGaattaataaggtgctcaaac	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35547879G>T	ENST00000262878.4	-	7	939	c.740C>A	c.(739-741)tCt>tAt	p.S247Y	SAMHD1_ENST00000373694.5_Missense_Mutation_p.S32Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	247	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATTCCATTAGAATTAATAAG	0.383													False	0	False	20:35547879	0	T	35547879	G	T	35547879	3	4	88	1	0	0	0	0	1	0	0	0	13907	942	33	3	1180	3	SAMHD1	20	35547879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	370380	35547879	27477641	19398	27110											
SAMHD1	25939	broad.mit.edu	37	chr20	35563450	35563450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accctagactatgctcaaatCgattgtgtgaagctcctgga	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35563450C>T	ENST00000262878.4	-	4	690	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	164	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATGCTCAAATCGATTGTGTGA	0.428													False	0	False	20:35563450	0	T	35563450	C	T	35563450	3	4	88	1	0	0	0	0	1	0	0	0	13907	884	31	1	1441	1	SAMHD1	20	35563450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15571	35563450	27462070	19399	27111											
SAMHD1	25939	broad.mit.edu	37	chr20	35563508	35563508	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccagctgtttgatgtatcGaagacgttgaaattgaggtg	12	6	0	4	rs121434517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35563508G>A	ENST00000262878.4	-	4	632	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	145			R -> Q (in AGS5).		defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGATGTATCGAAGACGTTGA	0.433													False	0	False	20:35563508	0	A	35563508	G	A	35563508	4	1	88	1	0	0	0	0	0	1	0	0	13907	1066	37	1	1499	1	SAMHD1	20	35563508	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	35563508	27462012	19400	27112											
RBL1	5933	broad.mit.edu	37	chr20	35696435	35696435	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggttcttcatatggatTttgaaatatatctaaaaaaa	7	3	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35696435T>G	ENST00000373664.3	-	3	511	c.445A>C	c.(445-447)Aat>Cat	p.N149H	RBL1_ENST00000344359.3_Missense_Mutation_p.N149H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	149					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCATATGGATTTTGAAATATA	0.328													False	0	True	20:35696435	0	G	35696435	T	G	35696435	3	3	88	1	0	0	0	0	1	0	0	0	13188	1841	64	4	2850	4	RBL1	20	35696435	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	132927	35696435	27329085	19401	27113											
SRC	6714	broad.mit.edu	37	chr20	36030016	36030016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgcccagggagtttgctgGactttctcaagggggagaca	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36030016G>A	ENST00000373578.2	+	11	1400	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	SRC_ENST00000373558.2_Missense_Mutation_p.D357N|SRC_ENST00000445403.1_Missense_Mutation_p.D351N|SRC_ENST00000373567.2_Missense_Mutation_p.D351N|SRC_ENST00000358208.4_Missense_Mutation_p.D351N|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000360723.4_Missense_Mutation_p.D357N	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	351	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GAGTTTGCTGGACTTTCTCAA	0.632													False	0	False	20:36030016	0	A	36030016	G	A	36030016	3	1	88	1	0	0	0	0	1	0	0	0	15216	1174	41	2	1081	2	SRC	20	36030016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	333581	36030016	26995504	19402	27114											
RPRD1B	58490	broad.mit.edu	37	chr20	36662454	36662454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctcatccaccaccgcaaGcacgcgggacccatcgtctc	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36662454G>A	ENST00000373433.4	+	1	507	c.105G>A	c.(103-105)aaG>aaA	p.K35K		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	35	CID.									endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						ACCACCGCAAGCACGCGGGAC	0.632													False	0	False	20:36662454	0	A	36662454	G	A	36662454	2	1	88	1	0	0	0	0	0	0	0	1	13695	962	34	2		2	RPRD1B	20	36662454	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	632438	36662454	26363066	19403	27115											
RPRD1B	58490	broad.mit.edu	37	chr20	36694492	36694492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtacttagacaaagaggCagctgaacgtctttcaaaaa	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36694492C>T	ENST00000373433.4	+	6	1067	c.665C>T	c.(664-666)gCa>gTa	p.A222V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	222										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GACAAAGAGGCAGCTGAACGT	0.438													False	0	False	20:36694492	0	T	36694492	C	T	36694492	3	4	88	1	0	0	0	0	1	0	0	0	13695	710	25	2	687	2	RPRD1B	20	36694492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32038	36694492	26331028	19404	27116											
TGM2	7052	broad.mit.edu	37	chr20	36775176	36775176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacttgacgcgctggcagcCgtggttcttccagcgccgca	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36775176C>T	ENST00000361475.2	-	6	975	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	TGM2_ENST00000536701.1_Missense_Mutation_p.G187S|TGM2_ENST00000536724.1_Missense_Mutation_p.G208S	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	268					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CGCTGGCAGCCGTGGTTCTTC	0.672													False	0	False	20:36775176	0	T	36775176	C	T	36775176	3	4	88	1	0	0	0	0	1	0	0	0	15912	652	23	1	1325	1	TGM2	20	36775176	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80684	36775176	26250344	19405	27117											
KIAA1755	85449	broad.mit.edu	37	chr20	36870077	36870077	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaaagtcactgttgatGgcctccagccattcttgggt	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36870077G>T	ENST00000279024.4	-	3	727	c.456C>A	c.(454-456)gcC>gcA	p.A152A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	152										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CACTGTTGATGGCCTCCAGCC	0.512													False	0	False	20:36870077	0	T	36870077	G	T	36870077	2	4	88	1	0	0	0	0	0	0	0	1	8307	1335	47	3		3	KIAA1755	20	36870077	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94901	36870077	26155443	19406	27118											
LBP	3929	broad.mit.edu	37	chr20	36982727	36982727	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtcaagggcatcagcAtttcggtcaacctcctgttg	10	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36982727A>C	ENST00000217407.2	+	4	573	c.412A>C	c.(412-414)Att>Ctt	p.I138L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	138					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGGCATCAGCATTTCGGTCAA	0.562													False	0	True	20:36982727	0	C	36982727	A	C	36982727	3	2	88	1	0	0	0	0	1	0	0	0	8702	217	8	4	426	4	LBP	20	36982727	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112650	36982727	26042793	19407	27119											
RALGAPB	57148	broad.mit.edu	37	chr20	37121723	37121724	+	Frame_Shift_Ins	INS	-	-	TCTCAGTAGACTG													gccagttattaaagagcctaINSatcaatatgttcaaactata							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37121723_37121724insTCTCAGTAGACTG	ENST00000262879.6	+	3	621_622	c.337_338insTCTCAGTAGACTG	c.(337-339)aatfs	p.N113fs	RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.N113fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.N113fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.N113fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	113					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAAAGAGCCTAATCAATATGTT	0.347													False	0	False	20:37121723	0	TCTCAGTAGACTG	37121724	-	TCTCAGTAGACTG	37121723	7	5	88	1	0	1	1	0	0	0	0	0	13094	362	13	0	343	0	RALGAPB	20	37121723	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	138996	37121723	25903797	19408	27120											
RALGAPB	57148	broad.mit.edu	37	chr20	37153514	37153514	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctaaactctcctcctttgttCtgctgtgacttgaaagggat	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37153514C>A	ENST00000262879.6	+	11	1997	c.1713C>A	c.(1711-1713)ttC>ttA	p.F571L	RALGAPB_ENST00000397042.3_Missense_Mutation_p.F571L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.F571L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.F349L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	571					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTCCTTTGTTCTGCTGTGACT	0.378													False	0	False	20:37153514	0	A	37153514	C	A	37153514	3	1	88	1	0	0	0	0	1	0	0	0	13094	912	32	3	1751	3	RALGAPB	20	37153514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31791	37153514	25872006	19409	27121											
ACTR5	79913	broad.mit.edu	37	chr20	37394145	37394145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacctggagtggagaagcCggtcaccactgttcaggttt	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37394145C>T	ENST00000243903.4	+	6	1314	c.1277C>T	c.(1276-1278)cCg>cTg	p.P426L		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	426					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GTGGAGAAGCCGGTCACCACT	0.473													False	0	False	20:37394145	0	T	37394145	C	T	37394145	3	4	88	1	0	0	0	0	1	0	0	0	215	652	23	1	1299	1	ACTR5	20	37394145	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240631	37394145	25631375	19410	27122											
PPP1R16B	26051	broad.mit.edu	37	chr20	37524228	37524228	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcatcgacaactttgaGgaaattgtgaagctgctcct	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37524228G>T	ENST00000299824.1	+	4	531	c.342G>T	c.(340-342)gaG>gaT	p.E114D	PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E114D	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	114					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ACAACTTTGAGGAAATTGTGA	0.607													False	0	False	20:37524228	0	T	37524228	G	T	37524228	3	4	88	1	0	0	0	0	1	0	0	0	12440	991	35	3	352	3	PPP1R16B	20	37524228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130083	37524228	25501292	19411	27123											
PPP1R16B	26051	broad.mit.edu	37	chr20	37546928	37546928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagtatgcgctggccaaCggggatgtctggaaggtgca	15	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37546928C>T	ENST00000299824.1	+	11	1512	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	PPP1R16B_ENST00000373331.2_Silent_p.N399N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	441					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CGCTGGCCAACGGGGATGTCT	0.607													False	0	True	20:37546928	0	T	37546928	C	T	37546928	2	4	88	1	0	0	0	0	0	0	0	1	12440	535	19	1		1	PPP1R16B	20	37546928	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22700	37546928	25478592	19412	27124											
FAM83D	81610	broad.mit.edu	37	chr20	37580769	37580769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacattctctttcctcgagGaactcaatctacagaagggt	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37580769G>A	ENST00000217429.4	+	4	1495	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	455	Ser-rich.				cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TTTCCTCGAGGAACTCAATCT	0.473													False	0	False	20:37580769	0	A	37580769	G	A	37580769	3	1	88	1	0	0	0	0	1	0	0	0	5676	1174	41	2	1468	2	FAM83D	20	37580769	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33841	37580769	25444751	19413	27125											
PLCG1	5335	broad.mit.edu	37	chr20	39802571	39802571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctaggatacagaGcagtgcctttgaagaacaac	8	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39802571G>A	ENST00000373272.2	+	30	3970	c.3565G>A	c.(3565-3567)Gca>Aca	p.A1189T	PLCG1_ENST00000373271.1_Missense_Mutation_p.A1189T|PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000244007.3_Missense_Mutation_p.A1189T	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1189					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AGGATACAGAGCAGTGCCTTT	0.587													False	0	False	20:39802571	0	A	39802571	G	A	39802571	3	1	88	1	0	0	0	0	1	0	0	0	12104	971	34	2	3683	2	PLCG1	20	39802571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2221802	39802571	23222949	19414	27126											
ZHX3	23051	broad.mit.edu	37	chr20	39831542	39831542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattctcctcagccttcttgGtctcctcagcattcactttt	4	15	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39831542G>A	ENST00000309060.3	-	4	2430	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I	ZHX3_ENST00000559234.1_Missense_Mutation_p.T672I|ZHX3_ENST00000540170.1_Missense_Mutation_p.T672I|ZHX3_ENST00000560361.1_Missense_Mutation_p.T672I|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.T672I|ZHX3_ENST00000432768.2_Missense_Mutation_p.T672I			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	672					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T672S(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGCCTTCTTGGTCTCCTCAGC	0.507													False	0	False	20:39831542	0	A	39831542	G	A	39831542	3	1	88	1	0	0	0	0	1	0	0	0	17760	1261	44	2	863	2	ZHX3	20	39831542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28971	39831542	23193978	19415	27127											
ZHX3	23051	broad.mit.edu	37	chr20	39833400	39833400	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtactgctggggttctgtgCtgcctcactgctggcagcag	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39833400C>A	ENST00000309060.3	-	4	572	c.157G>T	c.(157-159)Gca>Tca	p.A53S	ZHX3_ENST00000559234.1_Missense_Mutation_p.A53S|ZHX3_ENST00000540170.1_Missense_Mutation_p.A53S|ZHX3_ENST00000560361.1_Missense_Mutation_p.A53S|ZHX3_ENST00000557816.1_Missense_Mutation_p.A53S|ZHX3_ENST00000558993.1_Missense_Mutation_p.A53S|ZHX3_ENST00000544979.2_Missense_Mutation_p.A53S|ZHX3_ENST00000432768.2_Missense_Mutation_p.A53S			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	53	Required for nuclear localization.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGTTCTGTGCTGCCTCACTG	0.547													False	0	False	20:39833400	0	A	39833400	C	A	39833400	3	1	88	1	0	0	0	0	1	0	0	0	17760	797	28	3	2721	3	ZHX3	20	39833400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1858	39833400	23192120	19416	27128											
CHD6	0	broad.mit.edu	37	chr20	40033726	40033726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttgtgcttgatagagacGccggagcagtggaagtgcag	16	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40033726G>A	ENST00000373233.3	-	37	7832	c.7655C>T	c.(7654-7656)gCg>gTg	p.A2552V	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2552					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGATAGAGACGCCGGAGCAGT	0.547													False	0	False	20:40033726	0	A	40033726	G	A	40033726	3	1	88	1	0	0	0	0	1	0	0	0	3352	1087	38	1	496	1	CHD6	20	40033726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200326	40033726	22991794	19417	27129											
CHD6	0	broad.mit.edu	37	chr20	40045244	40045244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccttgtggatctgggccGccaatgctgcgccgttgctg	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40045244G>A	ENST00000373233.3	-	33	6647	c.6470C>T	c.(6469-6471)gCg>gTg	p.A2157V		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2157					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GATCTGGGCCGCCAATGCTGC	0.552													False	0	False	20:40045244	0	A	40045244	G	A	40045244	3	1	88	1	0	0	0	0	1	0	0	0	3352	1087	38	1	1697	1	CHD6	20	40045244	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11518	40045244	22980276	19418	27130											
CHD6	0	broad.mit.edu	37	chr20	40050062	40050062	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agttcccatctttgcttattGagatggtaataacatctttt	6	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40050062G>A	ENST00000373233.3	-	31	5390	c.5213C>T	c.(5212-5214)tCa>tTa	p.S1738L		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1738					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGCTTATTGAGATGGTAAT	0.453													False	0	False	20:40050062	0	A	40050062	G	A	40050062	3	1	88	1	0	0	0	0	1	0	0	0	3352	1294	45	2	2962	2	CHD6	20	40050062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4818	40050062	22975458	19419	27131											
CHD6	0	broad.mit.edu	37	chr20	40052176	40052176	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacagacattccggcacatgGccacaaaactataaaaatac	6	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40052176G>T	ENST00000373233.3	-	30	4688	c.4511C>A	c.(4510-4512)gCc>gAc	p.A1504D		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1504					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCGGCACATGGCCACAAAACT	0.418													False	0	False	20:40052176	0	T	40052176	G	T	40052176	3	4	88	1	0	0	0	0	1	0	0	0	3352	1203	42	3	3668	3	CHD6	20	40052176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2114	40052176	22973344	19420	27132											
CHD6	0	broad.mit.edu	37	chr20	40068746	40068746	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagtgctgggtctgctcGcatggcattgtacctttcat	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40068746G>A	ENST00000373233.3	-	26	4078	c.3901C>T	c.(3901-3903)Cga>Tga	p.R1301*	CHD6_ENST00000309279.7_Nonsense_Mutation_p.R784*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1301					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGGTCTGCTCGCATGGCATTG	0.463													False	0	False	20:40068746	0	A	40068746	G	A	40068746	4	1	88	1	0	0	0	0	0	1	0	0	3352	1095	38	1	4294	1	CHD6	20	40068746	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16570	40068746	22956774	19421	27133											
CHD6	0	broad.mit.edu	37	chr20	40081484	40081484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcctttcgtctgagtcGctgtctaactctgaaaactc	10	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40081484G>A	ENST00000373233.3	-	21	3396	c.3219C>T	c.(3217-3219)agC>agT	p.S1073S	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1073					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGTCTGAGTCGCTGTCTAACT	0.537													False	0	False	20:40081484	0	A	40081484	G	A	40081484	2	1	88	1	0	0	0	0	0	0	0	1	3352	1078	38	1		1	CHD6	20	40081484	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12738	40081484	22944036	19422	27134											
CHD6	0	broad.mit.edu	37	chr20	40111947	40111947	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagctttgacacaagtctcAccttctctggatgaggtaat	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40111947A>G	ENST00000373233.3	-	16	2646		c.e16+1		CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CACAAGTCTCACCTTCTCTGG	0.413													False	0	False	20:40111947	0	G	40111947	A	G	40111947	5	3	88	1	0	0	0	0	0	0	1	0	3352	173	6	4	5765	4	CHD6	20	40111947	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30463	40111947	22913573	19423	27135											
CHD6	0	broad.mit.edu	37	chr20	40118638	40118638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttttccctaggcccatcTcatcagccaaaatacagttt	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40118638T>C	ENST00000373233.3	-	12	1637	c.1460A>G	c.(1459-1461)gAg>gGg	p.E487G	CHD6_ENST00000309279.7_Missense_Mutation_p.E487G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	487	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TAGGCCCATCTCATCAGCCAA	0.398													False	0	False	20:40118638	0	C	40118638	T	C	40118638	3	2	88	1	0	0	0	0	1	0	0	0	3352	1551	54	4	6791	4	CHD6	20	40118638	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6691	40118638	22906882	19424	27136											
PTPRT	11122	broad.mit.edu	37	chr20	40735471	40735471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcccggagctcacgcacGcagttgaagatgtccaccac	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40735471G>A	ENST00000373198.4	-	25	3637	c.3402C>T	c.(3400-3402)tgC>tgT	p.C1134C	PTPRT_ENST00000356100.2_Silent_p.C1124C|PTPRT_ENST00000373193.3_Silent_p.C1118C|PTPRT_ENST00000373190.1_Silent_p.C1114C|PTPRT_ENST00000373184.1_Silent_p.C1125C|PTPRT_ENST00000373201.1_Silent_p.C1105C|PTPRT_ENST00000373187.1_Silent_p.C1115C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTCACGCACGCAGTTGAAGA	0.582													False	0	True	20:40735471	0	A	40735471	G	A	40735471	2	1	88	1	0	0	0	0	0	0	0	1	12891	1079	38	1		1	PTPRT	20	40735471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	616833	40735471	22290049	19425	27137											
PTPRT	11122	broad.mit.edu	37	chr20	40739056	40739056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaaggccagtggcataGcagggaacgccgtggtcagg	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40739056G>A	ENST00000373198.4	-	24	3463	c.3228C>T	c.(3226-3228)tgC>tgT	p.C1076C	PTPRT_ENST00000356100.2_Silent_p.C1066C|PTPRT_ENST00000373193.3_Silent_p.C1060C|PTPRT_ENST00000373190.1_Silent_p.C1056C|PTPRT_ENST00000373184.1_Silent_p.C1067C|PTPRT_ENST00000373201.1_Silent_p.C1047C|PTPRT_ENST00000373187.1_Silent_p.C1057C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGTGGCATAGCAGGGAACGC	0.597													False	0	False	20:40739056	0	A	40739056	G	A	40739056	2	1	88	1	0	0	0	0	0	0	0	1	12891	963	34	2		2	PTPRT	20	40739056	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3585	40739056	22286464	19426	27138											
PTPRT	11122	broad.mit.edu	37	chr20	40748583	40748583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcacttaccttgagtcGcaatgtagtgccgaggtcga	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40748583G>A	ENST00000373198.4	-	21	3168	c.2933C>T	c.(2932-2934)gCg>gTg	p.A978V	PTPRT_ENST00000356100.2_Missense_Mutation_p.A968V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A962V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A958V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373187.1_Missense_Mutation_p.A959V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCTTGAGTCGCAATGTAGTG	0.507													False	0	False	20:40748583	0	A	40748583	G	A	40748583	3	1	88	1	0	0	0	0	1	0	0	0	12891	1087	38	1	1497	1	PTPRT	20	40748583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9527	40748583	22276937	19427	27139											
PTPRT	11122	broad.mit.edu	37	chr20	40827933	40827933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccttcatcattgcggctgGcgctgagcttggtggtgggt	16	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40827933G>A	ENST00000373198.4	-	17	2730	c.2495C>T	c.(2494-2496)gCc>gTc	p.A832V	PTPRT_ENST00000356100.2_Missense_Mutation_p.A822V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A816V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A813V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373187.1_Missense_Mutation_p.A813V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATTGCGGCTGGCGCTGAGCTT	0.572													False	0	False	20:40827933	0	A	40827933	G	A	40827933	3	1	88	1	0	0	0	0	1	0	0	0	12891	1203	42	2	1951	2	PTPRT	20	40827933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79350	40827933	22197587	19428	27140											
PTPRT	11122	broad.mit.edu	37	chr20	40827959	40827959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttggtggtgggtttgtcGgcagaggccacaggccccat	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40827959G>A	ENST00000373198.4	-	17	2704	c.2469C>T	c.(2467-2469)gcC>gcT	p.A823A	PTPRT_ENST00000356100.2_Silent_p.A813A|PTPRT_ENST00000373193.3_Silent_p.A807A|PTPRT_ENST00000373190.1_Silent_p.A804A|PTPRT_ENST00000373184.1_Silent_p.A794A|PTPRT_ENST00000373201.1_Silent_p.A794A|PTPRT_ENST00000373187.1_Silent_p.A804A	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGTTTGTCGGCAGAGGCCA	0.557													False	0	False	20:40827959	0	A	40827959	G	A	40827959	2	1	88	1	0	0	0	0	0	0	0	1	12891	1103	39	1		1	PTPRT	20	40827959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	40827959	22197561	19429	27141											
PTPRT	11122	broad.mit.edu	37	chr20	40980807	40980807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaaggaataggtgGtccctgggtacagacccaca	14	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40980807G>A	ENST00000373198.4	-	10	1914	c.1679C>T	c.(1678-1680)aCc>aTc	p.T560I	PTPRT_ENST00000356100.2_Missense_Mutation_p.T560I|PTPRT_ENST00000373193.3_Missense_Mutation_p.T560I|PTPRT_ENST00000373190.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373184.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373201.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373187.1_Missense_Mutation_p.T560I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAATAGGTGGTCCCTGGGTA	0.557													False	0	False	20:40980807	0	A	40980807	G	A	40980807	3	1	88	1	0	0	0	0	1	0	0	0	12891	1261	44	2	2795	2	PTPRT	20	40980807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152848	40980807	22044713	19430	27142											
PTPRT	11122	broad.mit.edu	37	chr20	41420011	41420011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagaagtagtaatggaagtCgatgcagtgggtgtcattct	15	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:41420011C>T	ENST00000373198.4	-	3	545	c.310G>A	c.(310-312)Gac>Aac	p.D104N	PTPRT_ENST00000356100.2_Missense_Mutation_p.D104N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D104N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373187.1_Missense_Mutation_p.D104N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAATGGAAGTCGATGCAGTGG	0.567													False	0	False	20:41420011	0	T	41420011	C	T	41420011	3	4	88	1	0	0	0	0	1	0	0	0	12891	884	31	1	4192	1	PTPRT	20	41420011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439204	41420011	21605509	19431	27143											
SGK2	10110	broad.mit.edu	37	chr20	42208675	42208675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacctgtaccacaagaggCtaactccacccttcaaccca	5	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42208675C>T	ENST00000373100.1	+	13	1373	c.913C>T	c.(913-915)Cta>Tta	p.L305L	SGK2_ENST00000341458.4_Silent_p.L365L|SGK2_ENST00000373092.3_Silent_p.L305L|SGK2_ENST00000423407.3_Silent_p.L305L|SGK2_ENST00000426287.1_Silent_p.L331L|SGK2_ENST00000373077.1_Silent_p.L304L			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	365	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCACAAGAGGCTAACTCCACC	0.478													False	0	False	20:42208675	0	T	42208675	C	T	42208675	2	4	88	1	0	0	0	0	0	0	0	1	14290	796	28	2		2	SGK2	20	42208675	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	788664	42208675	20816845	19432	27144											
IFT52	51098	broad.mit.edu	37	chr20	42233661	42233661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaattagccgagctgcaGgaaaggctgtgcctgggatc	16	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42233661G>A	ENST00000373030.3	+	6	563	c.433G>A	c.(433-435)Gga>Aga	p.G145R	IFT52_ENST00000373039.4_Missense_Mutation_p.G145R	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	145						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGAGCTGCAGGAAAGGCTGT	0.388													False	0	False	20:42233661	0	A	42233661	G	A	42233661	3	1	88	1	0	0	0	0	1	0	0	0	7611	1001	35	2	451	2	IFT52	20	42233661	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24986	42233661	20791859	19433	27145											
MYBL2	4605	broad.mit.edu	37	chr20	42328479	42328479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaacttgcagcagccaCcacatcgaaggaacaggagc	13	11	0	0	rs142211101	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42328479C>T	ENST00000217026.4	+	7	873	c.746C>T	c.(745-747)aCc>aTc	p.T249I	MYBL2_ENST00000396863.4_Missense_Mutation_p.T225I	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	249						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCAGCAGCCACCACATCGAAG	0.552													False	0	False	20:42328479	0	T	42328479	C	T	42328479	3	4	88	1	0	0	0	0	1	0	0	0	10077	507	18	2	772	2	MYBL2	20	42328479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94818	42328479	20697041	19434	27146											
MYBL2	4605	broad.mit.edu	37	chr20	42340139	42340139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccacagccacagaccccGcacctggaggaggacttgaa	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42340139G>A	ENST00000217026.4	+	11	1744	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P	MYBL2_ENST00000396863.4_Silent_p.P515P	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	539						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACAGACCCCGCACCTGGAGG	0.627													False	0	True	20:42340139	0	A	42340139	G	A	42340139	2	1	88	1	0	0	0	0	0	0	0	1	10077	1074	38	1		1	MYBL2	20	42340139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11660	42340139	20685381	19435	27147											
TOX2	84969	broad.mit.edu	37	chr20	42683124	42683124	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcggtgacgtgtccaaaatCgtggcctccatgtgggacag	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42683124C>T	ENST00000358131.5	+	5	1072	c.864C>T	c.(862-864)atC>atT	p.I288I	TOX2_ENST00000423191.2_Silent_p.I237I|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Silent_p.I237I|TOX2_ENST00000341197.4_Silent_p.I279I	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGTCCAAAATCGTGGCCTCCA	0.592													False	0	False	20:42683124	0	T	42683124	C	T	42683124	2	4	88	1	0	0	0	0	0	0	0	1	16461	874	31	1		1	TOX2	20	42683124	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	342985	42683124	20342396	19436	27148											
TOX2	84969	broad.mit.edu	37	chr20	42683164	42683164	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggagaggaacagaagCaggtgagcctccctctcttt	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42683164C>T	ENST00000358131.5	+	5	1112	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	TOX2_ENST00000423191.2_Nonsense_Mutation_p.Q251*|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Nonsense_Mutation_p.Q251*|TOX2_ENST00000341197.4_Nonsense_Mutation_p.Q293*	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGAACAGAAGCAGGTGAGCCT	0.582													False	0	False	20:42683164	0	T	42683164	C	T	42683164	4	4	88	1	0	0	0	0	0	1	0	0	16461	711	25	2	1025	2	TOX2	20	42683164	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	42683164	20342356	19437	27149											
TOX2	84969	broad.mit.edu	37	chr20	42694624	42694624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgtcactgccccctcaCgcccagggcgccctcctcag	9	21	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42694624C>T	ENST00000358131.5	+	6	1387	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	TOX2_ENST00000423191.2_Silent_p.H369H|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Silent_p.H369H|TOX2_ENST00000341197.4_Silent_p.H411H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	393	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCCCCTCACGCCCAGGGCG	0.701													False	0	False	20:42694624	0	T	42694624	C	T	42694624	2	4	88	1	0	0	0	0	0	0	0	1	16461	535	19	1		1	TOX2	20	42694624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11460	42694624	20330896	19438	27150											
TOX2	84969	broad.mit.edu	37	chr20	42695431	42695431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcacctggcccatccaAccccaccagcagcggggact	9	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42695431A>G	ENST00000358131.5	+	7	1572	c.1364A>G	c.(1363-1365)aAc>aGc	p.N455S	TOX2_ENST00000423191.2_Missense_Mutation_p.N431S|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Missense_Mutation_p.N431S|TOX2_ENST00000341197.4_Missense_Mutation_p.N473S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	455	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCCATCCAACCCCACCAGC	0.637													False	0	True	20:42695431	0	G	42695431	A	G	42695431	3	3	88	1	0	0	0	0	1	0	0	0	16461	43	2	4	1578	4	TOX2	20	42695431	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	807	42695431	20330089	19439	27151											
JPH2	57158	broad.mit.edu	37	chr20	42744440	42744440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggctttggggatgatgggCttgggctccagcttggcggg	19	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42744440C>T	ENST00000372980.3	-	4	2747	c.1875G>A	c.(1873-1875)aaG>aaA	p.K625K		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	625	Pro-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGATGATGGGCTTGGGCTCCA	0.741													False	0	True	20:42744440	0	T	42744440	C	T	42744440	2	4	88	1	0	0	0	0	0	0	0	1	8011	796	28	2		2	JPH2	20	42744440	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49009	42744440	20281080	19440	27152											
JPH2	57158	broad.mit.edu	37	chr20	42788611	42788611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtgcggcctcgtcggcGccctcggcggcctctcccag	15	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42788611G>A	ENST00000372980.3	-	2	1688	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	272					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCTCGTCGGCGCCCTCGGCGG	0.687													False	0	True	20:42788611	0	A	42788611	G	A	42788611	2	1	88	1	0	0	0	0	0	0	0	1	8011	1074	38	1		1	JPH2	20	42788611	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44171	42788611	20236909	19441	27153											
GDAP1L1	78997	broad.mit.edu	37	chr20	42907813	42907813	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccaccctgctgtcggccgTcatccccaatgctttccggc	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42907813T>A	ENST00000342560.5	+	6	1065	c.977T>A	c.(976-978)gTc>gAc	p.V326D	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.V134D	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	326	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGTCGGCCGTCATCCCCAAT	0.612													False	0	False	20:42907813	0	A	42907813	T	A	42907813	3	1	88	1	0	0	0	0	1	0	0	0	6352	1667	58	5	999	5	GDAP1L1	20	42907813	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119202	42907813	20117707	19442	27154											
FITM2	128486	broad.mit.edu	37	chr20	42935305	42935305	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaaattcaaactacagCtctggggaggaagtcctggg	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42935305C>A	ENST00000396825.3	-	2	769	c.749G>T	c.(748-750)aGc>aTc	p.S250I		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	250					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						CAAACTACAGCTCTGGGGAGG	0.423													False	0	False	20:42935305	0	A	42935305	C	A	42935305	3	1	88	1	0	0	0	0	1	0	0	0	5939	797	28	3	43	3	FITM2	20	42935305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27492	42935305	20090215	19443	27155											
FITM2	128486	broad.mit.edu	37	chr20	42935595	42935595	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcaggaaggagtgaccTgagatgtcaaagccatgcca	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42935595T>C	ENST00000396825.3	-	2	479	c.459A>G	c.(457-459)tcA>tcG	p.S153S		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	153					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						AGGAGTGACCTGAGATGTCAA	0.582													False	0	False	20:42935595	0	C	42935595	T	C	42935595	2	2	88	1	0	0	0	0	0	0	0	1	5939	1567	55	4		4	FITM2	20	42935595	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	290	42935595	20089925	19444	27156											
TTPAL	79183	broad.mit.edu	37	chr20	43117903	43117903	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatttcattcccttttaGttcttcctccatgggtctga	5	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43117903G>A	ENST00000372904.3	+	6	893		c.e6-1		TTPAL_ENST00000262605.4_Splice_Site|TTPAL_ENST00000372906.2_Splice_Site	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like							intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						TTCCCTTTTAGTTCTTCCTCC	0.463													False	0	False	20:43117903	0	A	43117903	G	A	43117903	5	1	88	1	0	0	0	0	0	0	1	0	16821	1043	36	2	764	2	TTPAL	20	43117903	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	182308	43117903	19907617	19445	27157											
SERINC3	10955	broad.mit.edu	37	chr20	43133515	43133515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaggactgcaagaggccGgagcgaggctggtgttccta	18	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43133515G>A	ENST00000342374.4	-	7	958	c.801C>T	c.(799-801)tcC>tcT	p.S267S	SERINC3_ENST00000541235.1_Silent_p.S212S|SERINC3_ENST00000255175.1_Silent_p.S267S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	267						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GCAAGAGGCCGGAGCGAGGCT	0.493													False	0	False	20:43133515	0	A	43133515	G	A	43133515	2	1	88	1	0	0	0	0	0	0	0	1	14162	1103	39	1		1	SERINC3	20	43133515	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15612	43133515	19892005	19446	27158											
SERINC3	10955	broad.mit.edu	37	chr20	43135535	43135535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttaatactgatgaagAacttgttttctgtgcagcca	9	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43135535A>G	ENST00000342374.4	-	6	873	c.716T>C	c.(715-717)tTc>tCc	p.F239S	SERINC3_ENST00000541235.1_Missense_Mutation_p.F184S|SERINC3_ENST00000255175.1_Missense_Mutation_p.F239S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	239						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ACTGATGAAGAACTTGTTTTC	0.393													False	0	False	20:43135535	0	G	43135535	A	G	43135535	3	3	88	1	0	0	0	0	1	0	0	0	14162	246	9	4	725	4	SERINC3	20	43135535	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2020	43135535	19889985	19447	27159											
WISP2	8839	broad.mit.edu	37	chr20	43353497	43353497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcttcacctgcgtgccGctgtgcagcgaggatgtgcg	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43353497G>A	ENST00000372868.2	+	4	739	c.396G>A	c.(394-396)ccG>ccA	p.P132P	WISP2_ENST00000372865.4_Intron|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000190983.4_Silent_p.P132P|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	132	VWFC.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCTGCGTGCCGCTGTGCAGCG	0.697													False	0	False	20:43353497	0	A	43353497	G	A	43353497	2	1	88	1	0	0	0	0	0	0	0	1	17457	1074	38	1		1	WISP2	20	43353497	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217962	43353497	19672023	19448	27160											
RIMS4	140730	broad.mit.edu	37	chr20	43386371	43386371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcctggataatgtccacctCcaactgaccgttccgctcct	7	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43386371C>T	ENST00000372851.3	-	4	457	c.391G>A	c.(391-393)Gag>Aag	p.E131K	RIMS4_ENST00000541604.2_Missense_Mutation_p.E132K	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	131	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ATGTCCACCTCCAACTGACCG	0.592													False	0	False	20:43386371	0	T	43386371	C	T	43386371	3	4	88	1	0	0	0	0	1	0	0	0	13449	864	30	2	430	2	RIMS4	20	43386371	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32874	43386371	19639149	19449	27161											
YWHAB	7529	broad.mit.edu	37	chr20	43530459	43530459	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggcagaactgcaggacatCtgcaatgatgttctggtaag	13	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43530459C>T	ENST00000372839.3	+	3	559	c.285C>T	c.(283-285)atC>atT	p.I95I	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Silent_p.I95I	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	95					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TGCAGGACATCTGCAATGATG	0.413													False	0	False	20:43530459	0	T	43530459	C	T	43530459	2	4	88	1	0	0	0	0	0	0	0	1	17585	903	32	2		2	YWHAB	20	43530459	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144088	43530459	19495061	19450	27162											
PABPC1L	80336	broad.mit.edu	37	chr20	43561803	43561803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacccaggtgccacgcaCggtgcctcatacccagagag	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43561803C>T	ENST00000372824.1	+	1	1601	c.83C>T	c.(82-84)aCg>aTg	p.T28M	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000217073.2_Missense_Mutation_p.T474M|PABPC1L_ENST00000372819.1_Missense_Mutation_p.T28M|PABPC1L_ENST00000255136.3_Missense_Mutation_p.T474M|PABPC1L_ENST00000217075.2_Missense_Mutation_p.T28M|PABPC1L_ENST00000537323.1_3'UTR			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	474	RRM 1.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GTGCCACGCACGGTGCCTCAT	0.647													False	0	True	20:43561803	0	T	43561803	C	T	43561803	3	4	88	1	0	0	0	0	1	0	0	0	11432	536	19	1	1459	1	PABPC1L	20	43561803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31344	43561803	19463717	19451	27163											
TOMM34	10953	broad.mit.edu	37	chr20	43577463	43577463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtttcccttctttacaagCtcattgccttcttccttcag	5	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43577463C>A	ENST00000372813.3	-	5	758	c.606G>T	c.(604-606)gaG>gaT	p.E202D	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	202					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TCTTTACAAGCTCATTGCCTT	0.453													False	0	False	20:43577463	0	A	43577463	C	A	43577463	3	1	88	1	0	0	0	0	1	0	0	0	16439	796	28	3	335	3	TOMM34	20	43577463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15660	43577463	19448057	19452	27164											
KCNS1	3787	broad.mit.edu	37	chr20	43727300	43727300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggatcccggtgtcggggCccgggaactcgctcacaaag	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43727300C>T	ENST00000306117.1	-	4	509	c.113G>A	c.(112-114)gGc>gAc	p.G38D	KCNS1_ENST00000537075.1_Missense_Mutation_p.G38D	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	38						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GGTGTCGGGGCCCGGGAACTC	0.697													False	0	True	20:43727300	0	T	43727300	C	T	43727300	3	4	88	1	0	0	0	0	1	0	0	0	8138	739	26	2	1475	2	KCNS1	20	43727300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149837	43727300	19298220	19453	27165											
MATN4	8785	broad.mit.edu	37	chr20	43933168	43933168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcgtactggattgccaGtcccgtcatggtgccttgcg	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43933168G>T	ENST00000537548.1	-	4	587	c.343C>A	c.(343-345)Ctg>Atg	p.L115M	MATN4_ENST00000353917.5_Missense_Mutation_p.L115M|MATN4_ENST00000372756.1_Missense_Mutation_p.L115M|MATN4_ENST00000360607.6_Missense_Mutation_p.L115M|MATN4_ENST00000342716.4_Missense_Mutation_p.L115M|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.L115M			O95460	MATN4_HUMAN	matrilin 4	115	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGGATTGCCAGTCCCGTCATG	0.677													False	0	False	20:43933168	0	T	43933168	G	T	43933168	3	4	88	1	0	0	0	0	1	0	0	0	9403	1020	36	3	1434	3	MATN4	20	43933168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205868	43933168	19092352	19454	27166											
RBPJL	11317	broad.mit.edu	37	chr20	43944880	43944880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttaacgacagctcttgCtggaccatcatcggcaccga	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43944880C>T	ENST00000343694.3	+	10	1146	c.1074C>T	c.(1072-1074)tgC>tgT	p.C358C	RBPJL_ENST00000372743.1_Silent_p.C358C|RBPJL_ENST00000464504.1_Intron|RBPJL_ENST00000372741.3_Silent_p.C358C	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	358					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				ACAGCTCTTGCTGGACCATCA	0.627													False	0	False	20:43944880	0	T	43944880	C	T	43944880	2	4	88	1	0	0	0	0	0	0	0	1	13241	805	28	2		2	RBPJL	20	43944880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11712	43944880	19080640	19455	27167											
SDC4	6385	broad.mit.edu	37	chr20	43959025	43959025	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctgccaggacctccgttctCtcaaagatgttgctgccctg	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43959025C>A	ENST00000372733.3	-	4	465	c.426G>T	c.(424-426)gaG>gaT	p.E142D	SDC4_ENST00000537976.1_Missense_Mutation_p.E70D	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	142						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CCTCCGTTCTCTCAAAGATGT	0.547			T	ROS1	NSCLC								False	0	True	20:43959025	0	A	43959025	C	A	43959025	3	1	88	1	0	0	0	0	1	0	0	0	14035	912	32	3	178	3	SDC4	20	43959025	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14145	43959025	19066495	19456	27168											
SDC4	6385	broad.mit.edu	37	chr20	43959167	43959167	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggtggggacttggctcccaGaccctgccctctcagggata	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43959167G>T	ENST00000372733.3	-	4	323	c.284C>A	c.(283-285)tCt>tAt	p.S95Y	SDC4_ENST00000537976.1_Missense_Mutation_p.S23Y	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	95						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				TTGGCTCCCAGACCCTGCCCT	0.532			T	ROS1	NSCLC								False	0	False	20:43959167	0	T	43959167	G	T	43959167	3	4	88	1	0	0	0	0	1	0	0	0	14035	942	33	3	320	3	SDC4	20	43959167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142	43959167	19066353	19457	27169											
DBNDD2	55861	broad.mit.edu	37	chr20	44037151	44037151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggagcgccagcagctccGccttcgggagcggcaaaaat	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44037151G>A	ENST00000372712.2	+	2	625	c.44G>A	c.(43-45)cGc>cAc	p.R15H	DBNDD2_ENST00000372710.3_Missense_Mutation_p.R117H|DBNDD2_ENST00000372717.1_Missense_Mutation_p.R15H|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372720.3_Missense_Mutation_p.R113H|DBNDD2_ENST00000372722.3_Missense_Mutation_p.R15H|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372723.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000357275.2_Missense_Mutation_p.R15H|DBNDD2_ENST00000360981.4_Missense_Mutation_p.R15H			Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	113					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAGCAGCTCCGCCTTCGGGAG	0.547													False	0	False	20:44037151	0	A	44037151	G	A	44037151	3	1	88	1	0	0	0	0	1	0	0	0	4279	1087	38	1	46	1	DBNDD2	20	44037151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77984	44037151	18988369	19458	27170											
WFDC10B	280664	broad.mit.edu	37	chr20	44333605	44333605	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatttgtcctacacttttgCttgccctcctttcacaagac	4	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44333605C>A	ENST00000335769.2	-	1	53	c.26G>T	c.(25-27)aGc>aTc	p.S9I	WFDC13_ENST00000305479.2_Intron|WFDC10B_ENST00000330523.5_5'UTR	NM_172131.2	NP_742143.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	0						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TACACTTTTGCTTGCCCTCCT	0.488													False	0	True	20:44333605	0	A	44333605	C	A	44333605	3	1	88	1	0	0	0	0	1	0	0	0	17432	797	28	3	350	3	WFDC10B	20	44333605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	296454	44333605	18691915	19459	27171											
WFDC3	140686	broad.mit.edu	37	chr20	44405742	44405742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtctccgaggcaggtgcgGccacagccggtgctgcagca	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44405742G>A	ENST00000243938.4	-	5	548	c.465C>T	c.(463-465)ggC>ggT	p.G155G	WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372630.2_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	155	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGCAGGTGCGGCCACAGCCGG	0.562													False	0	False	20:44405742	0	A	44405742	G	A	44405742	2	1	88	1	0	0	0	0	0	0	0	1	17437	1190	42	2		2	WFDC3	20	44405742	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72137	44405742	18619778	19460	27172											
DNTTIP1	116092	broad.mit.edu	37	chr20	44430041	44430041	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttcccttttcttttagCgtggccgtcaggcagaagaa	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44430041C>T	ENST00000372622.3	+	6	510	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	148						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				TTTCTTTTAGCGTGGCCGTCA	0.522													False	0	False	20:44430041	0	T	44430041	C	T	44430041	5	4	88	1	0	0	0	0	0	0	1	0	4711	782	27	1	464	1	DNTTIP1	20	44430041	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24299	44430041	18595479	19461	27173											
TNNC2	7125	broad.mit.edu	37	chr20	44452970	44452970	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcggccagctcctcctcgCtcttccctttcgcgtcctct	6	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44452970C>A	ENST00000372557.1	-	5	437	c.230G>T	c.(229-231)aGc>aTc	p.S77I	TNNC2_ENST00000372555.3_Missense_Mutation_p.S92I			P02585	TNNC2_HUMAN	troponin C type 2 (fast)	92	EF-hand 2.				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				CTCCTCCTCGCTCTTCCCTTT	0.657													False	0	False	20:44452970	0	A	44452970	C	A	44452970	3	1	88	1	0	0	0	0	1	0	0	0	16407	797	28	3	219	3	TNNC2	20	44452970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22929	44452970	18572550	19462	27174											
SNX21	90203	broad.mit.edu	37	chr20	44463645	44463645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagtcagctcctggcgCggcagctgcaggatttctgg	17	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44463645C>T	ENST00000372542.1	+	2	622	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	SNX21_ENST00000462307.1_Missense_Mutation_p.R113W|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372541.1_Missense_Mutation_p.R104W|SNX21_ENST00000491381.1_Missense_Mutation_p.R113W|SNX21_ENST00000342644.5_Missense_Mutation_p.R113W			Q969T3	SNX21_HUMAN	sorting nexin family member 21	113					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GCTCCTGGCGCGGCAGCTGCA	0.617													False	0	False	20:44463645	0	T	44463645	C	T	44463645	3	4	88	1	0	0	0	0	1	0	0	0	14973	759	27	1	347	1	SNX21	20	44463645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10675	44463645	18561875	19463	27175											
ACOT8	10005	broad.mit.edu	37	chr20	44472353	44472353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtgcatcttcatgtcGccctcgcctgcaacaggtcc	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44472353G>A	ENST00000217455.4	-	5	744	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	218					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				TCTTCATGTCGCCCTCGCCTG	0.617													False	0	True	20:44472353	0	A	44472353	G	A	44472353	2	1	88	1	0	0	0	0	0	0	0	1	156	1074	38	1		1	ACOT8	20	44472353	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8708	44472353	18553167	19464	27176											
NEURL2	140825	broad.mit.edu	37	chr20	44519145	44519145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagagccctggccggctGcggcccaccaggcggtcccg	15	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44519145G>A	ENST00000372518.4	-	1	781	c.486C>T	c.(484-486)cgC>cgT	p.R162R		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	162	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CTGGCCGGCTGCGGCCCACCA	0.667													False	0	False	20:44519145	0	A	44519145	G	A	44519145	2	1	88	1	0	0	0	0	0	0	0	1	10414	1306	46	2		2	NEURL2	20	44519145	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46792	44519145	18506375	19465	27177											
CTSA	5476	broad.mit.edu	37	chr20	44521862	44521862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgggtgtttcacaggggCtggctgtgggcaatggactc	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44521862C>T	ENST00000372484.3	+	7	940	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L	RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000372459.2_Silent_p.L202L|CTSA_ENST00000354880.5_Silent_p.L203L|CTSA_ENST00000191018.5_Silent_p.L202L	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	202					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTCACAGGGGCTGGCTGTGGG	0.552													False	0	True	20:44521862	0	T	44521862	C	T	44521862	2	4	88	1	0	0	0	0	0	0	0	1	4054	796	28	2		2	CTSA	20	44521862	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2717	44521862	18503658	19466	27178											
PLTP	5360	broad.mit.edu	37	chr20	44528125	44528125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttcgtcaccacctcatgCacaaagttgatgccctcagg	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44528125C>T	ENST00000477313.1	-	14	1929	c.1335G>A	c.(1333-1335)gtG>gtA	p.V445V	PLTP_ENST00000354050.4_Silent_p.V393V|PLTP_ENST00000372431.3_Silent_p.V445V|PLTP_ENST00000542937.1_Silent_p.V465V|PLTP_ENST00000420868.2_Silent_p.V350V|PLTP_ENST00000372420.1_Silent_p.V357V			P55058	PLTP_HUMAN	phospholipid transfer protein	445					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CCACCTCATGCACAAAGTTGA	0.642													False	0	False	20:44528125	0	T	44528125	C	T	44528125	2	4	88	1	0	0	0	0	0	0	0	1	12183	697	25	2		2	PLTP	20	44528125	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6263	44528125	18497395	19467	27179											
PCIF1	63935	broad.mit.edu	37	chr20	44574362	44574362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacagaggaggtggaggCccctgaggtggagccccgcc	17	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44574362C>T	ENST00000372409.3	+	12	1545	c.1181C>T	c.(1180-1182)gCc>gTc	p.A394V	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	394						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GAGGTGGAGGCCCCTGAGGTG	0.627													False	0	True	20:44574362	0	T	44574362	C	T	44574362	3	4	88	1	0	0	0	0	1	0	0	0	11648	739	26	2	1219	2	PCIF1	20	44574362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46237	44574362	18451158	19468	27180											
ZNF335	63925	broad.mit.edu	37	chr20	44582471	44582471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctctcggctgctgcaccGccccctggctctgccacgtg	12	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44582471G>A	ENST00000322927.2	-	18	2659	c.2559C>T	c.(2557-2559)ggC>ggT	p.G853G	ZNF335_ENST00000426788.1_Silent_p.G698G	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTGCTGCACCGCCCCCTGGCT	0.642													False	0	True	20:44582471	0	A	44582471	G	A	44582471	2	1	88	1	0	0	0	0	0	0	0	1	17935	1074	38	1		1	ZNF335	20	44582471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8109	44582471	18443049	19469	27181											
ZNF335	63925	broad.mit.edu	37	chr20	44588995	44588995	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacaaacaaactcacagaaCtcacacttgaacctggaggc	6	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44588995C>A	ENST00000322927.2	-	14	1972	c.1872G>T	c.(1870-1872)gaG>gaT	p.E624D	ZNF335_ENST00000426788.1_Missense_Mutation_p.E469D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACTCACAGAACTCACACTTGA	0.552													False	0	False	20:44588995	0	A	44588995	C	A	44588995	3	1	88	1	0	0	0	0	1	0	0	0	17935	564	20	3	2216	3	ZNF335	20	44588995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6524	44588995	18436525	19470	27182											
ZNF335	63925	broad.mit.edu	37	chr20	44592534	44592534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccttgcccatggccaccaGgtgtcctgggcctgaggagc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44592534G>T	ENST00000322927.2	-	8	1298	c.1198C>A	c.(1198-1200)Ctg>Atg	p.L400M	ZNF335_ENST00000426788.1_Missense_Mutation_p.L245M	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ATGGCCACCAGGTGTCCTGGG	0.637													False	0	False	20:44592534	0	T	44592534	G	T	44592534	3	4	88	1	0	0	0	0	1	0	0	0	17935	991	35	3	2914	3	ZNF335	20	44592534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3539	44592534	18432986	19471	27183											
ZNF335	63925	broad.mit.edu	37	chr20	44599953	44599953	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgtcggcggacacggcttCtgaggtgcccacacccaggc	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44599953C>A	ENST00000322927.2	-	2	197	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GACACGGCTTCTGAGGTGCCC	0.731													False	0	False	20:44599953	0	A	44599953	C	A	44599953	4	1	88	1	0	0	0	0	0	1	0	0	17935	922	32	3	4039	3	ZNF335	20	44599953	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7419	44599953	18425567	19472	27184											
MMP9	4318	broad.mit.edu	37	chr20	44644913	44644913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctatttctgccaggaccGcttctactggcgcgtgagtt	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44644913G>A	ENST00000372330.3	+	13	2049	c.2030G>A	c.(2029-2031)cGc>cAc	p.R677H	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	677	Hemopexin-like 4.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TGCCAGGACCGCTTCTACTGG	0.522													False	0	False	20:44644913	0	A	44644913	G	A	44644913	3	1	88	1	0	0	0	0	1	0	0	0	9736	1087	38	1	2080	1	MMP9	20	44644913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44960	44644913	18380607	19473	27185											
SLC12A5	57468	broad.mit.edu	37	chr20	44669988	44669988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgcctcctgggtaaccGcacgctgtctcgccatggct	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44669988G>A	ENST00000243964.3	+	8	973	c.875G>A	c.(874-876)cGc>cAc	p.R292H	SLC12A5_ENST00000454036.2_Missense_Mutation_p.R315H	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	315					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGGTAACCGCACGCTGTCT	0.582													False	0	False	20:44669988	0	A	44669988	G	A	44669988	3	1	88	1	0	0	0	0	1	0	0	0	14467	1087	38	1	1030	1	SLC12A5	20	44669988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25075	44669988	18355532	19474	27186											
SLC12A5	57468	broad.mit.edu	37	chr20	44671804	44671804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacagagaacctctggaGctcctacctgaccaagggcg	10	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44671804G>A	ENST00000243964.3	+	9	1177	c.1079G>A	c.(1078-1080)aGc>aAc	p.S360N	SLC12A5_ENST00000454036.2_Missense_Mutation_p.S383N	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	383					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AACCTCTGGAGCTCCTACCTG	0.602													False	0	False	20:44671804	0	A	44671804	G	A	44671804	3	1	88	1	0	0	0	0	1	0	0	0	14467	971	34	2	1238	2	SLC12A5	20	44671804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1816	44671804	18353716	19475	27187											
SLC12A5	57468	broad.mit.edu	37	chr20	44671916	44671916	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcttcagtgatatgacCtcctacttcaccctgctggt	7	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44671916C>A	ENST00000243964.3	+	9	1289	c.1191C>A	c.(1189-1191)acC>acA	p.T397T	SLC12A5_ENST00000454036.2_Silent_p.T420T	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	420					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGATATGACCTCCTACTTCA	0.567													False	0	False	20:44671916	0	A	44671916	C	A	44671916	2	1	88	1	0	0	0	0	0	0	0	1	14467	668	24	3		3	SLC12A5	20	44671916	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	44671916	18353604	19476	27188											
SLC12A5	57468	broad.mit.edu	37	chr20	44680390	44680390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccaacttgcgtgatgGcgtgtcccatctgatccagt	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44680390G>A	ENST00000243964.3	+	18	2356	c.2258G>A	c.(2257-2259)gGc>gAc	p.G753D	SLC12A5_ENST00000454036.2_Missense_Mutation_p.G776D	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	776					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTGCGTGATGGCGTGTCCCAT	0.607													False	0	False	20:44680390	0	A	44680390	G	A	44680390	3	1	88	1	0	0	0	0	1	0	0	0	14467	1203	42	2	2453	2	SLC12A5	20	44680390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8474	44680390	18345130	19477	27189											
NCOA5	57727	broad.mit.edu	37	chr20	44691163	44691163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctggccaaaaagcccttGggaaggagccccaggtctgg	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44691163G>T	ENST00000290231.6	-	8	1680	c.1516C>A	c.(1516-1518)Caa>Aaa	p.Q506K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	506	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAAAGCCCTTGGGAAGGAGCC	0.552													False	0	True	20:44691163	0	T	44691163	G	T	44691163	3	4	88	1	0	0	0	0	1	0	0	0	10300	1357	47	3	227	3	NCOA5	20	44691163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10773	44691163	18334357	19478	27190											
NCOA5	57727	broad.mit.edu	37	chr20	44692047	44692047	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgctccttccgctctcGcaggtagttgatgatcttgt	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44692047G>A	ENST00000290231.6	-	7	1266	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTCCGCTCTCGCAGGTAGTTG	0.577													False	0	False	20:44692047	0	A	44692047	G	A	44692047	4	1	88	1	0	0	0	0	0	1	0	0	10300	1095	38	1	645	1	NCOA5	20	44692047	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	884	44692047	18333473	19479	27191											
NCOA5	57727	broad.mit.edu	37	chr20	44699120	44699120	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctctccttggacttcctcGaattggggatcgatcacgcc	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44699120G>A	ENST00000290231.6	-	3	258	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	32	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	p.R32*(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GGACTTCCTCGAATTGGGGAT	0.532													False	0	False	20:44699120	0	A	44699120	G	A	44699120	4	1	88	1	0	0	0	0	0	1	0	0	10300	1066	37	1	1669	1	NCOA5	20	44699120	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7073	44699120	18326400	19480	27192											
CD40	958	broad.mit.edu	37	chr20	44756855	44756855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccatcctcttggtgctggTctttatcagtgagtcctcag	10	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44756855T>C	ENST00000372285.3	+	7	710	c.638T>C	c.(637-639)gTc>gCc	p.V213A	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Silent_p.G192G	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	213					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	TTGGTGCTGGTCTTTATCAGT	0.542									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	20:44756855	0	C	44756855	T	C	44756855	3	2	88	1	0	0	0	0	1	0	0	0	3038	1667	58	4	664	4	CD40	20	44756855	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57735	44756855	18268665	19481	27193											
CDH22	64405	broad.mit.edu	37	chr20	44803650	44803650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacgttgtcccgcatgtctTcatcctcgtccgagctcagg	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44803650T>C	ENST00000372262.3	-	11	2382	c.1982A>G	c.(1981-1983)gAa>gGa	p.E661G	CDH22_ENST00000537909.1_Missense_Mutation_p.E661G	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	661					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCGCATGTCTTCATCCTCGTC	0.627													False	0	False	20:44803650	0	C	44803650	T	C	44803650	3	2	88	1	0	0	0	0	1	0	0	0	3130	1783	62	4	508	4	CDH22	20	44803650	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46795	44803650	18221870	19482	27194											
CDH22	64405	broad.mit.edu	37	chr20	44815312	44815312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcccgccttggggctcGtctctgtccaccacgctgat	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815312G>A	ENST00000372262.3	-	9	1978	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	CDH22_ENST00000537909.1_Silent_p.D526D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	526	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTTGGGGCTCGTCTCTGTCCA	0.587													False	0	False	20:44815312	0	A	44815312	G	A	44815312	2	1	88	1	0	0	0	0	0	0	0	1	3130	1136	40	1		1	CDH22	20	44815312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11662	44815312	18210208	19483	27195											
CDH22	64405	broad.mit.edu	37	chr20	44815474	44815474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggggtacctggcctggCttggcatcctcgcatacagc	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815474C>T	ENST00000372262.3	-	8	1936	c.1536G>A	c.(1534-1536)aaG>aaA	p.K512K	CDH22_ENST00000537909.1_Silent_p.K512K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	512	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCTGGCCTGGCTTGGCATCCT	0.617													False	0	True	20:44815474	0	T	44815474	C	T	44815474	2	4	88	1	0	0	0	0	0	0	0	1	3130	796	28	2		2	CDH22	20	44815474	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162	44815474	18210046	19484	27196											
CDH22	64405	broad.mit.edu	37	chr20	44828116	44828116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccggccgtctcgcggtccaGccccttgccagtcacgatgg	13	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44828116G>T	ENST00000372262.3	-	7	1769	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	CDH22_ENST00000537909.1_Missense_Mutation_p.L457M	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	457	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGCGGTCCAGCCCCTTGCCA	0.652													False	0	True	20:44828116	0	T	44828116	G	T	44828116	3	4	88	1	0	0	0	0	1	0	0	0	3130	962	34	3	1137	3	CDH22	20	44828116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12642	44828116	18197404	19485	27197											
CDH22	64405	broad.mit.edu	37	chr20	44845469	44845469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggcctcactcactctgCgggaaacggggcgggttgtc	16	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44845469C>T	ENST00000372262.3	-	4	1234	c.834G>A	c.(832-834)ccG>ccA	p.P278P	CDH22_ENST00000537909.1_Silent_p.P278P|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	278	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACTCACTCTGCGGGAAACGGG	0.612													False	0	True	20:44845469	0	T	44845469	C	T	44845469	2	4	88	1	0	0	0	0	0	0	0	1	3130	755	27	1		1	CDH22	20	44845469	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17353	44845469	18180051	19486	27198											
ELMO2	63916	broad.mit.edu	37	chr20	45022235	45022235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatactctgggtttggcaacGaccacctatgcaagagaaaa	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45022235G>A	ENST00000290246.6	-	5	319	c.125C>T	c.(124-126)tCg>tTg	p.S42L	ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.S42L|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.S42L|ELMO2_ENST00000439931.2_Missense_Mutation_p.S42L	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	42					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GTTTGGCAACGACCACCTATG	0.453													False	0	False	20:45022235	0	A	45022235	G	A	45022235	3	1	88	1	0	0	0	0	1	0	0	0	5098	1059	37	1	2109	1	ELMO2	20	45022235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176766	45022235	18003285	19487	27199											
ZNF334	55713	broad.mit.edu	37	chr20	45131661	45131661	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctttctgtaatcagtgttTtgttgctgaagaatacagtt	8	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45131661T>G	ENST00000457685.2	-	6	1526	c.203A>C	c.(202-204)aAa>aCa	p.K68T	ZNF334_ENST00000593880.1_Missense_Mutation_p.K129T|ZNF334_ENST00000347606.4_Missense_Mutation_p.K106T			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	106	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATCAGTGTTTTGTTGCTGAA	0.353													False	0	True	20:45131661	0	G	45131661	T	G	45131661	3	3	88	1	0	0	0	0	1	0	0	0	17934	1841	64	4	1729	4	ZNF334	20	45131661	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	109426	45131661	17893859	19488	27200											
SLC13A3	64849	broad.mit.edu	37	chr20	45188796	45188796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattcatagccaaactgagCagcaggacacccatcaggtt	9	11	2	1	rs141947019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45188796C>T	ENST00000279027.4	-	13	1692	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	SLC13A3_ENST00000396360.1_Silent_p.L476L|SLC13A3_ENST00000290317.5_Silent_p.L511L|SLC13A3_ENST00000435032.1_Silent_p.L143L|SLC13A3_ENST00000413164.2_Silent_p.L508L|SLC13A3_ENST00000472148.1_Silent_p.L476L|SLC13A3_ENST00000495082.1_Silent_p.L511L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	558						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCAAACTGAGCAGCAGGACAC	0.557													False	0	False	20:45188796	0	T	45188796	C	T	45188796	2	4	88	1	0	0	0	0	0	0	0	1	14474	697	25	2		2	SLC13A3	20	45188796	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57135	45188796	17836724	19489	27201											
SLC13A3	64849	broad.mit.edu	37	chr20	45192140	45192140	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaaggcaaaggagcagccGactgtgcccggaatcatcag	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45192140G>A	ENST00000279027.4	-	12	1563	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	SLC13A3_ENST00000396360.1_Silent_p.V433V|SLC13A3_ENST00000290317.5_Silent_p.V468V|SLC13A3_ENST00000435032.1_Silent_p.V100V|SLC13A3_ENST00000413164.2_Silent_p.V465V|SLC13A3_ENST00000472148.1_Silent_p.V433V|SLC13A3_ENST00000495082.1_Silent_p.V468V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	515						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGGAGCAGCCGACTGTGCCCG	0.612													False	0	False	20:45192140	0	A	45192140	G	A	45192140	2	1	88	1	0	0	0	0	0	0	0	1	14474	1045	37	1		1	SLC13A3	20	45192140	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3344	45192140	17833380	19490	27202											
SLC13A3	64849	broad.mit.edu	37	chr20	45217805	45217805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcccccacatacttgatgGgccccaggttctggtattct	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45217805G>T	ENST00000279027.4	-	7	1028	c.1010C>A	c.(1009-1011)cCc>cAc	p.P337H	SLC13A3_ENST00000396360.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P290H|SLC13A3_ENST00000372121.1_Missense_Mutation_p.P287H|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000413164.2_Missense_Mutation_p.P287H|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P290H	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	337						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATACTTGATGGGCCCCAGGTT	0.527													False	0	True	20:45217805	0	T	45217805	G	T	45217805	3	4	88	1	0	0	0	0	1	0	0	0	14474	1232	43	3	826	3	SLC13A3	20	45217805	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25665	45217805	17807715	19491	27203											
SLC2A10	81031	broad.mit.edu	37	chr20	45353838	45353838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcctggtgggcagcctgCtcctgggggctctcctcgcc	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45353838C>T	ENST00000359271.2	+	2	413	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	55						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGGCAGCCTGCTCCTGGGGGC	0.592													False	0	False	20:45353838	0	T	45353838	C	T	45353838	3	4	88	1	0	0	0	0	1	0	0	0	14619	797	28	2	169	2	SLC2A10	20	45353838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136033	45353838	17671682	19492	27204											
SLC2A10	81031	broad.mit.edu	37	chr20	45354819	45354819	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccccatcccagatctggaGacccctcagcccctcctcgg	8	20	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45354819G>A	ENST00000359271.2	+	2	1394	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	382						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CAGATCTGGAGACCCCTCAGC	0.637													False	0	False	20:45354819	0	A	45354819	G	A	45354819	3	1	88	1	0	0	0	0	1	0	0	0	14619	942	33	2	1150	2	SLC2A10	20	45354819	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	981	45354819	17670701	19493	27205											
EYA2	2139	broad.mit.edu	37	chr20	45633697	45633697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcttacccacctccagCacaagcctatggaatccctt	5	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45633697C>T	ENST00000327619.5	+	4	646	c.272C>T	c.(271-273)gCa>gTa	p.A91V	EYA2_ENST00000317304.6_Missense_Mutation_p.A91V|EYA2_ENST00000357410.3_Missense_Mutation_p.A91V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	91					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCACCTCCAGCACAAGCCTAT	0.552													False	0	False	20:45633697	0	T	45633697	C	T	45633697	3	4	88	1	0	0	0	0	1	0	0	0	5362	710	25	2	282	2	EYA2	20	45633697	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278878	45633697	17391823	19494	27206											
EYA2	2139	broad.mit.edu	37	chr20	45725724	45725724	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctctctttcatcacagCgtgtgttcgtgtgggacttg	10	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45725724C>T	ENST00000327619.5	+	9	1179	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	EYA2_ENST00000317304.6_Splice_Site_p.R269C|EYA2_ENST00000357410.3_Splice_Site_p.R269C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	269					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TTCATCACAGCGTGTGTTCGT	0.423													False	0	True	20:45725724	0	T	45725724	C	T	45725724	5	4	88	1	0	0	0	0	0	0	1	0	5362	782	27	1	835	1	EYA2	20	45725724	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92027	45725724	17299796	19495	27207											
EYA2	2139	broad.mit.edu	37	chr20	45801458	45801458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactggatgaggaagctgGccttccgctaccggcgggtg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45801458G>A	ENST00000327619.5	+	12	1515	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	EYA2_ENST00000317304.6_Missense_Mutation_p.A351T|EYA2_ENST00000357410.3_Missense_Mutation_p.A381T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	381				A -> S (in Ref. 7; AAB42065).	DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GAGGAAGCTGGCCTTCCGCTA	0.592													False	0	False	20:45801458	0	A	45801458	G	A	45801458	3	1	88	1	0	0	0	0	1	0	0	0	5362	1203	42	2	1183	2	EYA2	20	45801458	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75734	45801458	17224062	19496	27208											
ZMYND8	23613	broad.mit.edu	37	chr20	45849995	45849995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgcttttctcagctgaCgtctccttctctttggaggc	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45849995C>T	ENST00000311275.7	-	20	3580	c.3327G>A	c.(3325-3327)acG>acA	p.T1109T	ZMYND8_ENST00000352431.2_Silent_p.T1083T|ZMYND8_ENST00000461685.1_Silent_p.T1083T|ZMYND8_ENST00000355972.4_Silent_p.T1109T|ZMYND8_ENST00000446994.2_Silent_p.T1000T|ZMYND8_ENST00000360911.3_Silent_p.T1058T|ZMYND8_ENST00000458360.2_Silent_p.T977T|ZMYND8_ENST00000262975.4_Silent_p.T1063T|ZMYND8_ENST00000396281.4_Silent_p.T1109T|ZMYND8_ENST00000471951.2_Silent_p.T1129T|ZMYND8_ENST00000536340.1_Silent_p.T1136T|ZMYND8_ENST00000540497.1_Silent_p.T1057T|ZMYND8_ENST00000372023.3_Silent_p.T1031T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1109							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCTCAGCTGACGTCTCCTTCT	0.542													False	0	False	20:45849995	0	T	45849995	C	T	45849995	2	4	88	1	0	0	0	0	0	0	0	1	17794	523	19	1		1	ZMYND8	20	45849995	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48537	45849995	17175525	19497	27209											
ZMYND8	23613	broad.mit.edu	37	chr20	45856021	45856021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatctcgatcctcagcctgcGaatctggaagagggagagtg	13	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45856021G>A	ENST00000311275.7	-	18	3134	c.2881C>T	c.(2881-2883)Cgc>Tgc	p.R961C	ZMYND8_ENST00000352431.2_Missense_Mutation_p.R935C|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R935C|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R852C|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R910C|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R829C|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R915C|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R981C|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R988C|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R909C|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R883C	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	961							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTCAGCCTGCGAATCTGGAAG	0.537													False	0	False	20:45856021	0	A	45856021	G	A	45856021	3	1	88	1	0	0	0	0	1	0	0	0	17794	1058	37	1	787	1	ZMYND8	20	45856021	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6026	45856021	17169499	19498	27210											
ZMYND8	23613	broad.mit.edu	37	chr20	45867626	45867626	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtgccacttttgggaggaCgtttgaaacttacttgatga	11	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45867626C>T	ENST00000311275.7	-	15	2734	c.2481G>A	c.(2479-2481)acG>acA	p.T827T	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000355972.4_Silent_p.T827T|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000396281.4_Silent_p.T827T|ZMYND8_ENST00000471951.2_Silent_p.T847T|ZMYND8_ENST00000536340.1_Silent_p.T854T|ZMYND8_ENST00000540497.1_Silent_p.T775T|ZMYND8_ENST00000372023.3_Intron	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	827							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTTGGGAGGACGTTTGAAACT	0.572													False	0	False	20:45867626	0	T	45867626	C	T	45867626	2	4	88	1	0	0	0	0	0	0	0	1	17794	551	19	1		1	ZMYND8	20	45867626	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11605	45867626	17157894	19499	27211											
ZMYND8	23613	broad.mit.edu	37	chr20	45874915	45874915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttttcccttcagtttatcCtttatggggtgaggtgaagg	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45874915C>A	ENST00000311275.7	-	14	2314	c.2061G>T	c.(2059-2061)aaG>aaT	p.K687N	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K707N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K624N|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K682N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K714N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K635N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K682N	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	687							protein binding|zinc ion binding	p.K707N(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCAGTTTATCCTTTATGGGGT	0.507													False	0	True	20:45874915	0	A	45874915	C	A	45874915	3	1	88	1	0	0	0	0	1	0	0	0	17794	680	24	3	1485	3	ZMYND8	20	45874915	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7289	45874915	17150605	19500	27212											
NCOA3	8202	broad.mit.edu	37	chr20	46252654	46252654	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctacgccttttcccttaGtcttacctgcagtggtgaaa	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46252654G>T	ENST00000372004.3	+	4	299		c.e4-1		NCOA3_ENST00000371997.3_Splice_Site|NCOA3_ENST00000341724.6_Splice_Site|NCOA3_ENST00000371998.3_Splice_Site	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3						androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTTTCCCTTAGTCTTACCTGC	0.393													False	0	False	20:46252654	0	T	46252654	G	T	46252654	5	4	88	1	0	0	0	0	0	0	1	0	10298	1043	36	3	89	3	NCOA3	20	46252654	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	377739	46252654	16772866	19501	27213											
NCOA3	8202	broad.mit.edu	37	chr20	46262300	46262300	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgaggcctggctttgaagAtataatccgaaggtgtattc	11	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46262300A>T	ENST00000372004.3	+	9	1100	c.884A>T	c.(883-885)gAt>gTt	p.D295V	NCOA3_ENST00000371997.3_Missense_Mutation_p.D295V|NCOA3_ENST00000341724.6_Missense_Mutation_p.D295V|NCOA3_ENST00000371998.3_Missense_Mutation_p.D295V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	295					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGCTTTGAAGATATAATCCGA	0.368													False	0	False	20:46262300	0	T	46262300	A	T	46262300	3	4	88	1	0	0	0	0	1	0	0	0	10298	333	12	5	910	5	NCOA3	20	46262300	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9646	46262300	16763220	19502	27214											
NCOA3	8202	broad.mit.edu	37	chr20	46264680	46264680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcaatactgggaaccacaGcttttccagcagctctctca	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46264680G>T	ENST00000372004.3	+	12	1766	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	NCOA3_ENST00000371997.3_Missense_Mutation_p.S527I|NCOA3_ENST00000341724.6_Missense_Mutation_p.S527I|NCOA3_ENST00000371998.3_Missense_Mutation_p.S517I	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	517	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGAACCACAGCTTTTCCAGC	0.453													False	0	False	20:46264680	0	T	46264680	G	T	46264680	3	4	88	1	0	0	0	0	1	0	0	0	10298	971	34	3	1618	3	NCOA3	20	46264680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2380	46264680	16760840	19503	27215											
NCOA3	8202	broad.mit.edu	37	chr20	46264735	46264735	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagtgaaggtgtggggacTtcccttttatctactctgtc	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46264735T>G	ENST00000372004.3	+	12	1821	c.1605T>G	c.(1603-1605)acT>acG	p.T535T	NCOA3_ENST00000371997.3_Silent_p.T545T|NCOA3_ENST00000341724.6_Silent_p.T545T|NCOA3_ENST00000371998.3_Silent_p.T535T	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	535	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTGTGGGGACTTCCCTTTTAT	0.478													False	0	False	20:46264735	0	G	46264735	T	G	46264735	2	3	88	1	0	0	0	0	0	0	0	1	10298	1596	56	4		4	NCOA3	20	46264735	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55	46264735	16760785	19504	27216											
NCOA3	8202	broad.mit.edu	37	chr20	46277853	46277853	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccccaggtgagctcccaGgtgaggatgataagcctctc	12	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46277853G>A	ENST00000371998.3	+	19	3842	c.3651G>A	c.(3649-3651)caG>caA	p.Q1217Q	NCOA3_ENST00000371997.3_Intron|NCOA3_ENST00000341724.6_Intron|NCOA3_ENST00000372004.3_Intron			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1217	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						tgagctcccaggtgaggatga	0.507													False	0	False	20:46277853	0	A	46277853	G	A	46277853	5	1	88	1	0	0	0	0	0	0	1	0	10298	1014	35	2	3747	2	NCOA3	20	46277853	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13118	46277853	16747667	19505	27217											
SULF2	55959	broad.mit.edu	37	chr20	46365517	46365517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtgcctgccaggagggCgaggagcagttctcattgtt	15	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46365517C>T	ENST00000359930.4	-	3	1196	c.345G>A	c.(343-345)tcG>tcA	p.S115S	SULF2_ENST00000361612.4_Silent_p.S115S|SULF2_ENST00000484875.1_Silent_p.S115S|SULF2_ENST00000467815.1_Silent_p.S115S|SULF2_ENST00000478766.1_5'UTR	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	115					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCCAGGAGGGCGAGGAGCAGT	0.607													False	0	True	20:46365517	0	T	46365517	C	T	46365517	2	4	88	1	0	0	0	0	0	0	0	1	15453	755	27	1		1	SULF2	20	46365517	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87664	46365517	16660003	19506	27218											
PREX1	57580	broad.mit.edu	37	chr20	47269916	47269916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taccagggcctcttcgcgccGactccggaatgcctggaagt	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47269916G>A	ENST00000396220.1	-	20	2351	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	PREX1_ENST00000371941.3_Missense_Mutation_p.R777W			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	777					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCTTCGCGCCGACTCCGGAAT	0.582													False	0	False	20:47269916	0	A	47269916	G	A	47269916	3	1	88	1	0	0	0	0	1	0	0	0	12552	1057	37	1	2734	1	PREX1	20	47269916	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	904399	47269916	15755604	19507	27219											
PREX1	57580	broad.mit.edu	37	chr20	47274755	47274755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagccatagtcctcctcCtggggcaggatctgggggcc	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47274755C>T	ENST00000396220.1	-	17	1915	c.1893G>A	c.(1891-1893)caG>caA	p.Q631Q	PREX1_ENST00000371941.3_Silent_p.Q631Q			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	631	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGTCCTCCTCCTGGGGCAGGA	0.672											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	20:47274755	0	T	47274755	C	T	47274755	2	4	88	1	0	0	0	0	0	0	0	1	12552	680	24	2		2	PREX1	20	47274755	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4839	47274755	15750765	19508	27220											
PREX1	57580	broad.mit.edu	37	chr20	47297832	47297832	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgactccttcttccgtcTtgctgatttcaccaatttct	5	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47297832T>G	ENST00000396220.1	-	11	1398	c.1376A>C	c.(1375-1377)aAg>aCg	p.K459T	PREX1_ENST00000371941.3_Missense_Mutation_p.K459T			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	459	DEP 1.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTCTTCCGTCTTGCTGATTTC	0.542													False	0	False	20:47297832	0	G	47297832	T	G	47297832	3	3	88	1	0	0	0	0	1	0	0	0	12552	1609	56	4	3723	4	PREX1	20	47297832	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23077	47297832	15727688	19509	27221											
PREX1	57580	broad.mit.edu	37	chr20	47324875	47324875	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttggtctcattgatgtTggagcaaacggtcttcatgg	12	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47324875T>C	ENST00000396220.1	-	6	728	c.706A>G	c.(706-708)Aac>Gac	p.N236D	PREX1_ENST00000371941.3_Missense_Mutation_p.N236D			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	236	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCATTGATGTTGGAGCAAACG	0.617													False	0	False	20:47324875	0	C	47324875	T	C	47324875	3	2	88	1	0	0	0	0	1	0	0	0	12552	1812	63	4	4413	4	PREX1	20	47324875	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27043	47324875	15700645	19510	27222											
PREX1	57580	broad.mit.edu	37	chr20	47361598	47361598	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccaagttcatgctgagaCtgcggctccgggtgtaaaca	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47361598C>A	ENST00000396220.1	-	3	400	c.378G>T	c.(376-378)caG>caT	p.Q126H	PREX1_ENST00000371941.3_Missense_Mutation_p.Q126H			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	126	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CATGCTGAGACTGCGGCTCCG	0.483													False	0	False	20:47361598	0	A	47361598	C	A	47361598	3	1	88	1	0	0	0	0	1	0	0	0	12552	564	20	3	4753	3	PREX1	20	47361598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36723	47361598	15663922	19511	27223											
ARFGEF2	10564	broad.mit.edu	37	chr20	47582460	47582460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagagagttctaggtgaacTggagtgccaggaatgtgcta	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47582460T>C	ENST00000371917.4	+	8	959	c.959T>C	c.(958-960)cTg>cCg	p.L320P		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	320					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTAGGTGAACTGGAGTGCCAG	0.468													False	0	False	20:47582460	0	C	47582460	T	C	47582460	3	2	88	1	0	0	0	0	1	0	0	0	855	1580	55	4	989	4	ARFGEF2	20	47582460	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220862	47582460	15443060	19512	27224											
ARFGEF2	10564	broad.mit.edu	37	chr20	47601357	47601357	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatagcccaattcctgcacCaggaggagcgcctggattcc	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47601357C>T	ENST00000371917.4	+	15	2050	c.2050C>T	c.(2050-2052)Cag>Tag	p.Q684*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	684	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ATTCCTGCACCAGGAGGAGCG	0.517													False	0	False	20:47601357	0	T	47601357	C	T	47601357	4	4	88	1	0	0	0	0	0	1	0	0	855	595	21	2	2108	2	ARFGEF2	20	47601357	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18897	47601357	15424163	19513	27225											
ARFGEF2	10564	broad.mit.edu	37	chr20	47628603	47628603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgcttctgtggcaaataCgtctctgagaggcctcgggt	12	11	2	1	rs142138231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47628603C>T	ENST00000371917.4	+	28	3900	c.3900C>T	c.(3898-3900)taC>taT	p.Y1300Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1300					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GTGGCAAATACGTCTCTGAGA	0.517													False	0	False	20:47628603	0	T	47628603	C	T	47628603	2	4	88	1	0	0	0	0	0	0	0	1	855	547	19	1		1	ARFGEF2	20	47628603	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27246	47628603	15396917	19514	27226											
CSE1L	1434	broad.mit.edu	37	chr20	47691952	47691952	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttctctggttatgttaaTtccatgctgcaggaatacgc	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47691952T>G	ENST00000262982.2	+	12	1353	c.1230T>G	c.(1228-1230)aaT>aaG	p.N410K	CSE1L_ENST00000542325.1_Missense_Mutation_p.N193K|CSE1L_ENST00000396192.3_Missense_Mutation_p.N354K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	410					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GTTATGTTAATTCCATGCTGC	0.428													False	0	False	20:47691952	0	G	47691952	T	G	47691952	3	3	88	1	0	0	0	0	1	0	0	0	3955	1490	52	4	1272	4	CSE1L	20	47691952	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63349	47691952	15333568	19515	27227											
CSE1L	1434	broad.mit.edu	37	chr20	47700686	47700686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttactatgcgagggcctAacaatgccactctgtgagta	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47700686A>G	ENST00000262982.2	+	15	1729	c.1606A>G	c.(1606-1608)Aac>Gac	p.N536D	CSE1L_ENST00000542325.1_Missense_Mutation_p.N319D|CSE1L_ENST00000396192.3_Missense_Mutation_p.N480D	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	536					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GCGAGGGCCTAACAATGCCAC	0.403													False	0	False	20:47700686	0	G	47700686	A	G	47700686	3	3	88	1	0	0	0	0	1	0	0	0	3955	362	13	4	1660	4	CSE1L	20	47700686	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8734	47700686	15324834	19516	27228											
STAU1	6780	broad.mit.edu	37	chr20	47734381	47734381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgagaggtccatggggtAcgtggcctgaagagatgtta	16	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47734381A>G	ENST00000371828.3	-	11	1704	c.1217T>C	c.(1216-1218)gTa>gCa	p.V406A	STAU1_ENST00000371856.2_Missense_Mutation_p.V481A|STAU1_ENST00000360426.4_Missense_Mutation_p.V400A|STAU1_ENST00000371802.1_Missense_Mutation_p.V406A|STAU1_ENST00000340954.7_Missense_Mutation_p.V400A|STAU1_ENST00000371792.1_Missense_Mutation_p.V398A|STAU1_ENST00000347458.5_Missense_Mutation_p.V400A	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	481						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCCATGGGGTACGTGGCCTGA	0.542													False	0	False	20:47734381	0	G	47734381	A	G	47734381	3	3	88	1	0	0	0	0	1	0	0	0	15354	391	14	4	307	4	STAU1	20	47734381	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33695	47734381	15291139	19517	27229											
STAU1	6780	broad.mit.edu	37	chr20	47768165	47768165	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaggatcctcaacgctTtggcagcagcatcgtgtttc	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47768165T>G	ENST00000371828.3	-	5	708	c.221A>C	c.(220-222)aAa>aCa	p.K74T	STAU1_ENST00000371856.2_Missense_Mutation_p.K155T|STAU1_ENST00000360426.4_Missense_Mutation_p.K74T|STAU1_ENST00000371802.1_Missense_Mutation_p.K74T|STAU1_ENST00000340954.7_Missense_Mutation_p.K74T|STAU1_ENST00000371792.1_Missense_Mutation_p.K74T|STAU1_ENST00000347458.5_Missense_Mutation_p.K74T	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	155	DRBM 1.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCTCAACGCTTTGGCAGCAGC	0.537													False	0	True	20:47768165	0	G	47768165	T	G	47768165	3	3	88	1	0	0	0	0	1	0	0	0	15354	1841	64	4	1327	4	STAU1	20	47768165	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33784	47768165	15257355	19518	27230											
DDX27	55661	broad.mit.edu	37	chr20	47836014	47836014	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacctcggcttaatcggaaCcataggcgaggatgacgagg	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47836014C>A	ENST00000371764.4	+	1	131	c.122C>A	c.(121-123)aCc>aAc	p.T41N	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	41						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTAATCGGAACCATAGGCGAG	0.602													False	0	False	20:47836014	0	A	47836014	C	A	47836014	3	1	88	1	0	0	0	0	1	0	0	0	4379	507	18	3	124	3	DDX27	20	47836014	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67849	47836014	15189506	19519	27231											
DDX27	55661	broad.mit.edu	37	chr20	47858654	47858655	+	In_Frame_Ins	INS	-	-	CAA													cagtttgaaatcctcaaggcINSgcagatgtttgctgaacggc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47858654_47858655insCAA	ENST00000371764.4	+	18	2129_2130	c.2120_2121insCAA	c.(2119-2124)gcgcag>gcCAAgcag	p.707_708AQ>AKQ	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	707						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATCCTCAAGGCGCAGATGTTTG	0.599													False	0	False	20:47858654	0	CAA	47858655	-	CAA	47858654	7	5	88	1	0	1	1	0	0	0	0	0	4379	768	27	0	2190	0	DDX27	20	47858654	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	22640	47858654	15166866	19520	27232	282	2									
DDX27	55661	broad.mit.edu	37	chr20	47858655	47858656	+	Frame_Shift_Ins	INS	-	-	T													agtttgaaatcctcaaggcgINScagatgtttgctgaacggct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47858655_47858656insT	ENST00000371764.4	+	18	2130_2131	c.2121_2122insT	c.(2122-2124)cagfs	p.Q708fs	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	708						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCTCAAGGCGCAGATGTTTGC	0.599													False	0	False	20:47858655	0	T	47858656	-	T	47858655	7	5	88	1	0	1	1	0	0	0	0	0	4379	1074	38	0	2191	0	DDX27	20	47858655	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1	47858655	15166865	19521	27233	282	2									
ZNFX1	57169	broad.mit.edu	37	chr20	47865209	47865209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaacgcccttcgaagcagCtgtggcaggagcctgggcaa	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47865209C>T	ENST00000396105.1	-	14	4598	c.4352G>A	c.(4351-4353)aGc>aAc	p.S1451N	ZNFX1_ENST00000371752.1_Missense_Mutation_p.S1451N|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1451							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCGAAGCAGCTGTGGCAGGA	0.567													False	0	False	20:47865209	0	T	47865209	C	T	47865209	3	4	88	1	0	0	0	0	1	0	0	0	18287	797	28	2	1408	2	ZNFX1	20	47865209	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6554	47865209	15160311	19522	27234											
KCNB1	3745	broad.mit.edu	37	chr20	47991499	47991499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcaatggtggagaggaCgatgaacatgatggaaatta	15	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47991499C>T	ENST00000371741.4	-	2	764	c.598G>A	c.(598-600)Gtc>Atc	p.V200I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	200					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTGGAGAGGACGATGAACATG	0.522													False	0	False	20:47991499	0	T	47991499	C	T	47991499	3	4	88	1	0	0	0	0	1	0	0	0	8062	536	19	1	1982	1	KCNB1	20	47991499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126290	47991499	15034021	19523	27235											
PTGIS	5740	broad.mit.edu	37	chr20	48164483	48164483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggaagtcgagcctggtgCgaggctcccacaccaccgcg	13	15	0	0	rs144185728		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48164483C>T	ENST00000244043.4	-	3	301	c.272G>A	c.(271-273)cGc>cAc	p.R91H	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	91					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GAGCCTGGTGCGAGGCTCCCA	0.557													False	0	False	20:48164483	0	T	48164483	C	T	48164483	3	4	88	1	0	0	0	0	1	0	0	0	12829	768	27	1	1262	1	PTGIS	20	48164483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172984	48164483	14861037	19524	27236											
B4GALT5	9334	broad.mit.edu	37	chr20	48252915	48252915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtttttatacaaggcgtcGtatgtgatgtttgcaaagta	10	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48252915G>A	ENST00000371711.4	-	9	1288	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	367					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ACAAGGCGTCGTATGTGATGT	0.493													False	0	False	20:48252915	0	A	48252915	G	A	48252915	2	1	88	1	0	0	0	0	0	0	0	1	1278	1140	40	1		1	B4GALT5	20	48252915	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88432	48252915	14772605	19525	27237											
B4GALT5	9334	broad.mit.edu	37	chr20	48259054	48259054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgctggcgctggagcatgGgaagcaggtgtctgaacagg	18	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48259054G>T	ENST00000371711.4	-	5	744	c.557C>A	c.(556-558)cCc>cAc	p.P186H		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	186					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CTGGAGCATGGGAAGCAGGTG	0.493													False	0	True	20:48259054	0	T	48259054	G	T	48259054	3	4	88	1	0	0	0	0	1	0	0	0	1278	1232	43	3	629	3	B4GALT5	20	48259054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6139	48259054	14766466	19526	27238											
B4GALT5	9334	broad.mit.edu	37	chr20	48260145	48260145	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagaagagttcatgaatgTaatccattccaatttcactc	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48260145T>C	ENST00000371711.4	-	4	594	c.407A>G	c.(406-408)tAc>tGc	p.Y136C		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	136					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TTCATGAATGTAATCCATTCC	0.463													False	0	False	20:48260145	0	C	48260145	T	C	48260145	3	2	88	1	0	0	0	0	1	0	0	0	1278	1638	57	4	783	4	B4GALT5	20	48260145	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1091	48260145	14765375	19527	27239											
FAM65C	140876	broad.mit.edu	37	chr20	49214249	49214249	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgccgtgctctgcagggcTgtggacgaagtggccagacc	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49214249T>G	ENST00000327979.2	-	14	2059		c.e14-2		FAM65C_ENST00000535356.1_Splice_Site|FAM65C_ENST00000045083.2_Splice_Site			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C											endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGCAGGGCTGTGGACGAAG	0.662													False	0	False	20:49214249	0	G	49214249	T	G	49214249	5	3	88	1	0	0	0	0	0	0	1	0	5641	1594	55	4	1230	4	FAM65C	20	49214249	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	954104	49214249	13811271	19528	27240											
ADNP	23394	broad.mit.edu	37	chr20	49508536	49508536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgttcctctgggttatcGttagagattttaggttcaac	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49508536G>A	ENST00000396029.3	-	5	3282	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	ADNP_ENST00000396032.3_Silent_p.N905N|ADNP_ENST00000371602.4_Silent_p.N905N|ADNP_ENST00000349014.3_Silent_p.N905N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	905						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTGGGTTATCGTTAGAGATTT	0.388													False	0	False	20:49508536	0	A	49508536	G	A	49508536	2	1	88	1	0	0	0	0	0	0	0	1	323	1136	40	1		1	ADNP	20	49508536	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294287	49508536	13516984	19529	27241											
ADNP	23394	broad.mit.edu	37	chr20	49509662	49509662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgtgaaccatccgcatgTgtgcggccatcttttccaca	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49509662T>C	ENST00000396029.3	-	5	2156	c.1589A>G	c.(1588-1590)cAc>cGc	p.H530R	ADNP_ENST00000396032.3_Missense_Mutation_p.H530R|ADNP_ENST00000371602.4_Missense_Mutation_p.H530R|ADNP_ENST00000349014.3_Missense_Mutation_p.H530R	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	530						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CATCCGCATGTGTGCGGCCAT	0.408													False	0	True	20:49509662	0	C	49509662	T	C	49509662	3	2	88	1	0	0	0	0	1	0	0	0	323	1696	59	4	1723	4	ADNP	20	49509662	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1126	49509662	13515858	19530	27242											
ADNP	23394	broad.mit.edu	37	chr20	49510697	49510697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgctgaaaatgttccctgTaaatgtgcttcctaactatt	6	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49510697T>C	ENST00000396029.3	-	5	1121	c.554A>G	c.(553-555)tAc>tGc	p.Y185C	ADNP_ENST00000396032.3_Missense_Mutation_p.Y185C|ADNP_ENST00000371602.4_Missense_Mutation_p.Y185C|ADNP_ENST00000349014.3_Missense_Mutation_p.Y185C	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	185						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATGTTCCCTGTAAATGTGCTT	0.448													False	0	True	20:49510697	0	C	49510697	T	C	49510697	3	2	88	1	0	0	0	0	1	0	0	0	323	1638	57	4	2758	4	ADNP	20	49510697	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1035	49510697	13514823	19531	27243											
MOCS3	27304	broad.mit.edu	37	chr20	49575496	49575496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctgagcaggaaccgcaGccagaacggctggttccggt	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49575496G>A	ENST00000244051.1	+	1	134	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	39					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						AGGAACCGCAGCCAGAACGGC	0.607													False	0	False	20:49575496	0	A	49575496	G	A	49575496	2	1	88	1	0	0	0	0	0	0	0	1	9759	962	34	2		2	MOCS3	20	49575496	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64799	49575496	13450024	19532	27244											
NFATC2	4773	broad.mit.edu	37	chr20	50048864	50048864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctggtggcttccgcagCgcagctgctggttggtgggt	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50048864C>T	ENST00000371564.3	-	9	2681	c.2462G>A	c.(2461-2463)cGc>cAc	p.R821H	NFATC2_ENST00000414705.1_Missense_Mutation_p.R801H|NFATC2_ENST00000609507.1_Missense_Mutation_p.R602H|NFATC2_ENST00000610033.1_Missense_Mutation_p.R602H|NFATC2_ENST00000396009.3_Missense_Mutation_p.R821H|NFATC2_ENST00000609943.1_Missense_Mutation_p.R801H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	821					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCTTCCGCAGCGCAGCTGCTG	0.652													False	0	True	20:50048864	0	T	50048864	C	T	50048864	3	4	88	1	0	0	0	0	1	0	0	0	10430	768	27	1	371	1	NFATC2	20	50048864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	473368	50048864	12976656	19533	27245											
NFATC2	4773	broad.mit.edu	37	chr20	50071220	50071220	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagctcgtgagcagatcGctgggctgcaggcaaaagag	17	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50071220G>A	ENST00000371564.3	-	6	1933	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	NFATC2_ENST00000414705.1_Nonsense_Mutation_p.R552*|NFATC2_ENST00000609507.1_Nonsense_Mutation_p.R353*|NFATC2_ENST00000610033.1_Nonsense_Mutation_p.R353*|NFATC2_ENST00000396009.3_Nonsense_Mutation_p.R572*|NFATC2_ENST00000609943.1_Nonsense_Mutation_p.R552*	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	572	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGAGCAGATCGCTGGGCTGCA	0.502													False	0	False	20:50071220	0	A	50071220	G	A	50071220	4	1	88	1	0	0	0	0	0	1	0	0	10430	1095	38	1	1131	1	NFATC2	20	50071220	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22356	50071220	12954300	19534	27246											
ATP9A	10079	broad.mit.edu	37	chr20	50235228	50235228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggtgagcttgcccgtgcGctcctgaagcaggcgcacga	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50235228G>A	ENST00000338821.5	-	21	2587	c.2323C>T	c.(2323-2325)Cgc>Tgc	p.R775C	ATP9A_ENST00000402822.1_Missense_Mutation_p.R654C|ATP9A_ENST00000311637.5_Missense_Mutation_p.R639C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	775					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGCCCGTGCGCTCCTGAAGC	0.642													False	0	False	20:50235228	0	A	50235228	G	A	50235228	3	1	88	1	0	0	0	0	1	0	0	0	1202	1087	38	1	852	1	ATP9A	20	50235228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164008	50235228	12790292	19535	27247											
ATP9A	10079	broad.mit.edu	37	chr20	50305609	50305609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacggcgcctcacctgatgCgaccacagtgccagcccaca	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50305609C>T	ENST00000338821.5	-	9	1057	c.793G>A	c.(793-795)Gca>Aca	p.A265T	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	265					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACCTGATGCGACCACAGTG	0.483													False	0	False	20:50305609	0	T	50305609	C	T	50305609	3	4	88	1	0	0	0	0	1	0	0	0	1202	768	27	1	2430	1	ATP9A	20	50305609	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70381	50305609	12719911	19536	27248											
ATP9A	10079	broad.mit.edu	37	chr20	50310575	50310575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggagcctctgcgtgcagGccacgggaagccgcagcttc	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50310575G>A	ENST00000338821.5	-	7	878	c.614C>T	c.(613-615)gCc>gTc	p.A205V	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	205					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTGCGTGCAGGCCACGGGAAG	0.627													False	0	False	20:50310575	0	A	50310575	G	A	50310575	3	1	88	1	0	0	0	0	1	0	0	0	1202	1203	42	2	2617	2	ATP9A	20	50310575	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4966	50310575	12714945	19537	27249											
ATP9A	10079	broad.mit.edu	37	chr20	50329607	50329607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacagtgacggccagcaCgaagccctgcagagacagac	13	12	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50329607C>T	ENST00000338821.5	-	4	598	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	ATP9A_ENST00000402822.1_Missense_Mutation_p.V112M|ATP9A_ENST00000311637.5_Missense_Mutation_p.V97M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	112					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACGGCCAGCACGAAGCCCTGC	0.627													False	0	False	20:50329607	0	T	50329607	C	T	50329607	3	4	88	1	0	0	0	0	1	0	0	0	1202	536	19	1	2909	1	ATP9A	20	50329607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19032	50329607	12695913	19538	27250											
SALL4	57167	broad.mit.edu	37	chr20	50405478	50405478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagtgtgagtccgctcGtggatctgaagagcgctagc	13	11	2	3	rs11698418		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50405478G>A	ENST00000217086.4	-	3	2775	c.2664C>T	c.(2662-2664)caC>caT	p.H888H	SALL4_ENST00000395997.3_Silent_p.H451H|SALL4_ENST00000371539.3_Silent_p.H111H	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	888			H -> R (in DRRS).		transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTCCGCTCGTGGATCTGAA	0.542													False	0	False	20:50405478	0	A	50405478	G	A	50405478	2	1	88	1	0	0	0	0	0	0	0	1	13892	1136	40	1		1	SALL4	20	50405478	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75871	50405478	12620042	19539	27251											
SALL4	57167	broad.mit.edu	37	chr20	50405543	50405543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagccatgttgcttggCctgtcggcgtggctgggctg	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50405543C>T	ENST00000217086.4	-	3	2710	c.2599G>A	c.(2599-2601)Gcc>Acc	p.A867T	SALL4_ENST00000395997.3_Missense_Mutation_p.A430T|SALL4_ENST00000371539.3_Missense_Mutation_p.A90T	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	867					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTTGCTTGGCCTGTCGGCGT	0.567													False	0	False	20:50405543	0	T	50405543	C	T	50405543	3	4	88	1	0	0	0	0	1	0	0	0	13892	739	26	2	570	2	SALL4	20	50405543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65	50405543	12619977	19540	27252											
SALL4	57167	broad.mit.edu	37	chr20	50406636	50406636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agactttgacttgatgctttCggcttgactattggccgggg	13	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50406636C>T	ENST00000217086.4	-	2	2497	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	796					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGATGCTTTCGGCTTGACTA	0.527													False	0	True	20:50406636	0	T	50406636	C	T	50406636	3	4	88	1	0	0	0	0	1	0	0	0	13892	893	31	1	787	1	SALL4	20	50406636	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1093	50406636	12618884	19541	27253											
SALL4	57167	broad.mit.edu	37	chr20	50406812	50406812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggttaaaaggggcaggaCccactttccctggggcatct	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50406812C>T	ENST00000217086.4	-	2	2321	c.2210G>A	c.(2209-2211)gGt>gAt	p.G737D	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	737					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGGCAGGACCCACTTTCCC	0.597													False	0	True	20:50406812	0	T	50406812	C	T	50406812	3	4	88	1	0	0	0	0	1	0	0	0	13892	507	18	2	963	2	SALL4	20	50406812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176	50406812	12618708	19542	27254											
SALL4	57167	broad.mit.edu	37	chr20	50408810	50408810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatttctcacagacgtgcGtctcctcccgacgaagccgc	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50408810G>A	ENST00000217086.4	-	2	323	c.212C>T	c.(211-213)aCg>aTg	p.T71M	SALL4_ENST00000395997.3_Missense_Mutation_p.T71M|SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	71					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAGACGTGCGTCTCCTCCCG	0.488													False	0	False	20:50408810	0	A	50408810	G	A	50408810	3	1	88	1	0	0	0	0	1	0	0	0	13892	1145	40	1	2961	1	SALL4	20	50408810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1998	50408810	12616710	19543	27255											
ZFP64	55734	broad.mit.edu	37	chr20	50701282	50701282	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacgaaggaggcgccgcaGgtctcacagcggaaggccct	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50701282G>T	ENST00000361387.2	-	9	1812	c.1752C>A	c.(1750-1752)acC>acA	p.T584T	ZFP64_ENST00000371523.4_Silent_p.T365T|ZFP64_ENST00000371518.2_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGGCGCCGCAGGTCTCACAGC	0.602													False	0	False	20:50701282	0	T	50701282	G	T	50701282	2	4	88	1	0	0	0	0	0	0	0	1	17735	987	35	3		3	ZFP64	20	50701282	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	292472	50701282	12324238	19544	27256											
ZFP64	55734	broad.mit.edu	37	chr20	50769195	50769195	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgcagcggcggcagcctgGacgatggtgttcgcctgggg	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50769195G>A	ENST00000216923.4	-	6	1885	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	ZFP64_ENST00000346617.4_Silent_p.V458V|ZFP64_ENST00000371515.4_Silent_p.V510V|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGGCAGCCTGGACGATGGTGT	0.647													False	0	False	20:50769195	0	A	50769195	G	A	50769195	2	1	88	1	0	0	0	0	0	0	0	1	17735	1161	41	2		2	ZFP64	20	50769195	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67913	50769195	12256325	19545	27257											
ZFP64	55734	broad.mit.edu	37	chr20	50782534	50782534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaggtaagtttgatagCcatgttcaaaaacaaattct	9	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50782534C>T	ENST00000216923.4	-	3	666	c.317G>A	c.(316-318)gGc>gAc	p.G106D	ZFP64_ENST00000346617.4_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.G104D|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000361387.2_Missense_Mutation_p.G106D|ZFP64_ENST00000371518.2_Missense_Mutation_p.G106D	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTTTGATAGCCATGTTCAAA	0.423													False	0	False	20:50782534	0	T	50782534	C	T	50782534	3	4	88	1	0	0	0	0	1	0	0	0	17735	739	26	2	2935	2	ZFP64	20	50782534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13339	50782534	12242986	19546	27258											
TSHZ2	128553	broad.mit.edu	37	chr20	51870294	51870294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggacatcaagagtgtctgCggcagagatgcctcagacaa	12	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51870294C>T	ENST00000371497.5	+	2	1184	c.297C>T	c.(295-297)tgC>tgT	p.C99C	TSHZ2_ENST00000329613.6_Silent_p.C96C|TSHZ2_ENST00000603338.2_Silent_p.C96C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	99					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGAGTGTCTGCGGCAGAGATG	0.512													False	0	False	20:51870294	0	T	51870294	C	T	51870294	2	4	88	1	0	0	0	0	0	0	0	1	16707	776	27	1		1	TSHZ2	20	51870294	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1087760	51870294	11155226	19547	27259											
TSHZ2	128553	broad.mit.edu	37	chr20	51870871	51870871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccctccaagatttgagcGtccacatgattaaaacaaaa	5	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51870871G>A	ENST00000371497.5	+	2	1761	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	TSHZ2_ENST00000329613.6_Missense_Mutation_p.V289I|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V289I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	292					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGATTTGAGCGTCCACATGAT	0.438													False	0	False	20:51870871	0	A	51870871	G	A	51870871	3	1	88	1	0	0	0	0	1	0	0	0	16707	1145	40	1	880	1	TSHZ2	20	51870871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	577	51870871	11154649	19548	27260											
TSHZ2	128553	broad.mit.edu	37	chr20	51871469	51871469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatcctctacaaaaacCtttagaccctacaatcaaat	3	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51871469C>A	ENST00000371497.5	+	2	2359	c.1472C>A	c.(1471-1473)cCt>cAt	p.P491H	TSHZ2_ENST00000329613.6_Missense_Mutation_p.P488H|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P488H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	491					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTACAAAAACCTTTAGACCCT	0.403													False	0	True	20:51871469	0	A	51871469	C	A	51871469	3	1	88	1	0	0	0	0	1	0	0	0	16707	681	24	3	1478	3	TSHZ2	20	51871469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	598	51871469	11154051	19549	27261											
TSHZ2	128553	broad.mit.edu	37	chr20	51871966	51871966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgaaggaggaggagaagCtgatgaaagagggcagcgag	18	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51871966C>A	ENST00000371497.5	+	2	2856	c.1969C>A	c.(1969-1971)Ctg>Atg	p.L657M	TSHZ2_ENST00000329613.6_Missense_Mutation_p.L654M|TSHZ2_ENST00000603338.2_Missense_Mutation_p.L654M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	657					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGAGGAGAAGCTGATGAAAGA	0.597													False	0	False	20:51871966	0	A	51871966	C	A	51871966	3	1	88	1	0	0	0	0	1	0	0	0	16707	796	28	3	1975	3	TSHZ2	20	51871966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	497	51871966	11153554	19550	27262											
ZNF217	7764	broad.mit.edu	37	chr20	52192497	52192497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcatagcctcttctgtAattggccccgggctggtcaa	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52192497A>G	ENST00000371471.2	-	4	3231	c.2806T>C	c.(2806-2808)Tac>Cac	p.Y936H	ZNF217_ENST00000302342.3_Missense_Mutation_p.Y936H			O75362	ZN217_HUMAN	zinc finger protein 217	936					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCTCTTCTGTAATTGGCCCCG	0.547													False	0	False	20:52192497	0	G	52192497	A	G	52192497	3	3	88	1	0	0	0	0	1	0	0	0	17855	362	13	4	348	4	ZNF217	20	52192497	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	320531	52192497	10833023	19551	27263											
ZNF217	7764	broad.mit.edu	37	chr20	52192856	52192856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtgggacttcaggttaCttggggctaaagtgctagag	15	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52192856C>T	ENST00000371471.2	-	4	2872	c.2447G>A	c.(2446-2448)aGt>aAt	p.S816N	ZNF217_ENST00000302342.3_Missense_Mutation_p.S816N			O75362	ZN217_HUMAN	zinc finger protein 217	816					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTTCAGGTTACTTGGGGCTAA	0.567													False	0	False	20:52192856	0	T	52192856	C	T	52192856	3	4	88	1	0	0	0	0	1	0	0	0	17855	565	20	2	707	2	ZNF217	20	52192856	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	359	52192856	10832664	19552	27264											
ZNF217	7764	broad.mit.edu	37	chr20	52198796	52198796	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggactactctccaagccTtgctgcagtttgcttctggc	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52198796T>G	ENST00000371471.2	-	2	995	c.570A>C	c.(568-570)caA>caC	p.Q190H	ZNF217_ENST00000302342.3_Missense_Mutation_p.Q190H			O75362	ZN217_HUMAN	zinc finger protein 217	190					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCTCCAAGCCTTGCTGCAGTT	0.512													False	0	False	20:52198796	0	G	52198796	T	G	52198796	3	3	88	1	0	0	0	0	1	0	0	0	17855	1606	56	4	2592	4	ZNF217	20	52198796	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5940	52198796	10826724	19553	27265											
ZNF217	7764	broad.mit.edu	37	chr20	52198924	52198924	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaatctttgtgtgttcTcatgtggatctcaacatcaa	8	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52198924T>G	ENST00000371471.2	-	2	867	c.442A>C	c.(442-444)Aga>Cga	p.R148R	ZNF217_ENST00000302342.3_Silent_p.R148R			O75362	ZN217_HUMAN	zinc finger protein 217	148					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTGTGTGTTCTCATGTGGATC	0.408													False	0	False	20:52198924	0	G	52198924	T	G	52198924	2	3	88	1	0	0	0	0	0	0	0	1	17855	1559	54	4		4	ZNF217	20	52198924	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	128	52198924	10826596	19554	27266											
CYP24A1	0	broad.mit.edu	37	chr20	52788203	52788203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacccgctgccagtcttcCccttccctgtgagagaagca	10	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52788203C>T	ENST00000216862.3	-	3	849	c.456G>A	c.(454-456)ggG>ggA	p.G152G	CYP24A1_ENST00000395955.3_Silent_p.G152G|CYP24A1_ENST00000395954.3_Silent_p.G10G	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	152					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCCAGTCTTCCCCTTCCCTGT	0.463													False	0	True	20:52788203	0	T	52788203	C	T	52788203	2	4	88	1	0	0	0	0	0	0	0	1	4179	610	22	2		2	CYP24A1	20	52788203	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	589279	52788203	10237317	19555	27267											
DOK5	55816	broad.mit.edu	37	chr20	53208230	53208230	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgcagattacatatgAgtatatctgtctttgggacg	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53208230A>C	ENST00000262593.5	+	5	835	c.485A>C	c.(484-486)gAg>gCg	p.E162A	DOK5_ENST00000395939.1_Missense_Mutation_p.E54A	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	162	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ATTACATATGAGTATATCTGT	0.458													False	0	False	20:53208230	0	C	53208230	A	C	53208230	3	2	88	1	0	0	0	0	1	0	0	0	4730	304	11	4	503	4	DOK5	20	53208230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	420027	53208230	9817290	19556	27268											
DOK5	55816	broad.mit.edu	37	chr20	53227033	53227033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatagccgagcagcacgagCgcttgctacagagtgtgaaa	12	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53227033C>T	ENST00000262593.5	+	6	1056	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	DOK5_ENST00000395939.1_Missense_Mutation_p.R128C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	236	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCAGCACGAGCGCTTGCTACA	0.507													False	0	False	20:53227033	0	T	53227033	C	T	53227033	3	4	88	1	0	0	0	0	1	0	0	0	4730	768	27	1	728	1	DOK5	20	53227033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18803	53227033	9798487	19557	27269											
DOK5	55816	broad.mit.edu	37	chr20	53260055	53260055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatggtgcccctgcctcGcagcgcctactggcagcaca	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53260055G>A	ENST00000262593.5	+	7	1144	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DOK5_ENST00000395939.1_Missense_Mutation_p.R157H	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	265							insulin receptor binding	p.R265H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CCCCTGCCTCGCAGCGCCTAC	0.627													False	0	False	20:53260055	0	A	53260055	G	A	53260055	3	1	88	1	0	0	0	0	1	0	0	0	4730	1087	38	1	820	1	DOK5	20	53260055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33022	53260055	9765465	19558	27270											
CBLN4	140689	broad.mit.edu	37	chr20	54575785	54575785	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaggtcaaaacacacAcctggatagtttggctctgg	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54575785A>G	ENST00000064571.2	-	2	1709		c.e2+1			NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor							cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CAAAACACACACCTGGATAGT	0.363													False	0	True	20:54575785	0	G	54575785	A	G	54575785	5	3	88	1	0	0	0	0	0	0	1	0	2727	173	6	4	203	4	CBLN4	20	54575785	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1315730	54575785	8449735	19559	27271											
CBLN4	140689	broad.mit.edu	37	chr20	54579107	54579107	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttcgagtcgcacaccaccaGacacttgccctccagcacga	8	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54579107G>T	ENST00000064571.2	-	1	1421	c.121C>A	c.(121-123)Ctg>Atg	p.L41M		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	41						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CACACCACCAGACACTTGCCC	0.692													False	0	False	20:54579107	0	T	54579107	G	T	54579107	3	4	88	1	0	0	0	0	1	0	0	0	2727	933	33	3	496	3	CBLN4	20	54579107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3322	54579107	8446413	19560	27272											
MC3R	4159	broad.mit.edu	37	chr20	54824572	54824572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagcgcatagcagcactgCcacctgccgacggggtggcc	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54824572C>T	ENST00000243911.2	+	1	785	c.673C>T	c.(673-675)Cca>Tca	p.P225S		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	262					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AGCAGCACTGCCACCTGCCGA	0.597													False	0	False	20:54824572	0	T	54824572	C	T	54824572	3	4	88	1	0	0	0	0	1	0	0	0	9432	739	26	2	675	2	MC3R	20	54824572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245465	54824572	8200948	19561	27273											
MC3R	4159	broad.mit.edu	37	chr20	54824796	54824796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcgacccactcatctaCgctttccggagcctggaatt	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54824796C>T	ENST00000243911.2	+	1	1009	c.897C>T	c.(895-897)taC>taT	p.Y299Y		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	336					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CACTCATCTACGCTTTCCGGA	0.537													False	0	False	20:54824796	0	T	54824796	C	T	54824796	2	4	88	1	0	0	0	0	0	0	0	1	9432	547	19	1		1	MC3R	20	54824796	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224	54824796	8200724	19562	27274											
AURKA	6790	broad.mit.edu	37	chr20	54945360	54945360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaaatgaggtccctggCtccctctgttacaaagtcag	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54945360C>T	ENST00000395909.4	-	11	1631	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	AURKA_ENST00000395915.3_Missense_Mutation_p.A356T|AURKA_ENST00000371356.2_Missense_Mutation_p.A356T|AURKA_ENST00000312783.6_Missense_Mutation_p.A356T|AURKA_ENST00000395911.1_Missense_Mutation_p.A356T|AURKA_ENST00000395914.1_Missense_Mutation_p.A356T|AURKA_ENST00000395913.3_Missense_Mutation_p.A356T|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000347343.2_Missense_Mutation_p.A356T	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	356	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			AGGTCCCTGGCTCCCTCTGTT	0.413													False	0	False	20:54945360	0	T	54945360	C	T	54945360	3	4	88	1	0	0	0	0	1	0	0	0	1225	797	28	2	149	2	AURKA	20	54945360	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120564	54945360	8080160	19563	27275											
CSTF1	1477	broad.mit.edu	37	chr20	54974226	54974226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtaactggaagcaaggaCggctgcatcaaattatggga	12	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54974226C>T	ENST00000217109.4	+	5	1201	c.849C>T	c.(847-849)gaC>gaT	p.D283D	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	283					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GAAGCAAGGACGGCTGCATCA	0.393													False	0	False	20:54974226	0	T	54974226	C	T	54974226	2	4	88	1	0	0	0	0	0	0	0	1	4008	535	19	1		1	CSTF1	20	54974226	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28866	54974226	8051294	19564	27276											
CSTF1	1477	broad.mit.edu	37	chr20	54978770	54978770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggttttggtaccggagatCgaccactgactgagccaccc	12	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54978770C>T	ENST00000217109.4	+	6	1635	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	428					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TACCGGAGATCGACCACTGAC	0.582													False	0	False	20:54978770	0	T	54978770	C	T	54978770	3	4	88	1	0	0	0	0	1	0	0	0	4008	893	31	1	1301	1	CSTF1	20	54978770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4544	54978770	8046750	19565	27277											
CASS4	57091	broad.mit.edu	37	chr20	55027901	55027901	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagtgtccagaacagcccaGatgaccttgagaggtttgtc	11	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55027901G>T	ENST00000371336.3	+	5	1870	c.1669G>T	c.(1669-1671)Gat>Tat	p.D557Y	CASS4_ENST00000360314.3_Missense_Mutation_p.D557Y|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	557					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAACAGCCCAGATGACCTTGA	0.488													False	0	False	20:55027901	0	T	55027901	G	T	55027901	3	4	88	1	0	0	0	0	1	0	0	0	2703	942	33	3	1687	3	CASS4	20	55027901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49131	55027901	7997619	19566	27278											
TFAP2C	7022	broad.mit.edu	37	chr20	55206408	55206408	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttccccctccctaccagCagctggcctactcccagtcg	6	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55206408C>T	ENST00000201031.2	+	2	439	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	66	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TCCCTACCAGCAGCTGGCCTA	0.697													False	0	False	20:55206408	0	T	55206408	C	T	55206408	4	4	88	1	0	0	0	0	0	1	0	0	15871	711	25	2	202	2	TFAP2C	20	55206408	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178507	55206408	7819112	19567	27279											
BMP7	655	broad.mit.edu	37	chr20	55746142	55746142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcagggcttgggcaccGtttccgggttgatgaagtgg	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55746142G>A	ENST00000395863.3	-	7	1674	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Missense_Mutation_p.T324M	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	390					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTTGGGCACCGTTTCCGGGTT	0.517													False	0	True	20:55746142	0	A	55746142	G	A	55746142	3	1	88	1	0	0	0	0	1	0	0	0	1470	1145	40	1	130	1	BMP7	20	55746142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	539734	55746142	7279378	19568	27280											
RAE1	8480	broad.mit.edu	37	chr20	55949767	55949767	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagaacaaaactaaaaacTtcggaacagttagatcagcc	7	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55949767T>C	ENST00000395841.2	+	11	1350	c.930T>C	c.(928-930)acT>acC	p.T310T	RAE1_ENST00000371242.2_Silent_p.T310T|RAE1_ENST00000395840.2_Silent_p.T310T|RAE1_ENST00000527947.1_Silent_p.T310T	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	310					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AACTAAAAACTTCGGAACAGT	0.453													False	0	False	20:55949767	0	C	55949767	T	C	55949767	2	2	88	1	0	0	0	0	0	0	0	1	13077	1596	56	4		4	RAE1	20	55949767	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	203625	55949767	7075753	19569	27281											
PCK1	5105	broad.mit.edu	37	chr20	56139438	56139438	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggaagaataaggagtggaGctcagaggatggtgtgtccc	16	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56139438G>T	ENST00000319441.4	+	7	1339	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I	PCK1_ENST00000543666.1_Missense_Mutation_p.S75I|PCK1_ENST00000535860.1_Missense_Mutation_p.S260I	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	392					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGGAGTGGAGCTCAGAGGAT	0.582													False	0	False	20:56139438	0	T	56139438	G	T	56139438	3	4	88	1	0	0	0	0	1	0	0	0	11649	971	34	3	1197	3	PCK1	20	56139438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189671	56139438	6886082	19570	27282											
PCK1	5105	broad.mit.edu	37	chr20	56139544	56139544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgtcttataggggaacCttgtgcccaccccaactcga	8	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56139544C>T	ENST00000319441.4	+	8	1357	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	PCK1_ENST00000543666.1_Missense_Mutation_p.P81L|PCK1_ENST00000535860.1_Silent_p.T295T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	398					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATAGGGGAACCTTGTGCCCAC	0.597													False	0	False	20:56139544	0	T	56139544	C	T	56139544	3	4	88	1	0	0	0	0	1	0	0	0	11649	681	24	2	1219	2	PCK1	20	56139544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106	56139544	6885976	19571	27283											
PMEPA1	56937	broad.mit.edu	37	chr20	56227286	56227286	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgacctcgctgtaggtgggCggcggcccctccatgcgccc	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227286C>A	ENST00000341744.3	-	4	1006	c.687G>T	c.(685-687)ccG>ccT	p.P229P	PMEPA1_ENST00000395816.3_Silent_p.P179P|PMEPA1_ENST00000347215.4_Silent_p.P194P|PMEPA1_ENST00000265626.4_Silent_p.P179P|PMEPA1_ENST00000395814.1_Silent_p.P179P	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	229					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TGTAGGTGGGCGGCGGCCCCT	0.716													False	0	True	20:56227286	0	A	56227286	C	A	56227286	2	1	88	1	0	0	0	0	0	0	0	1	12201	755	27	3		3	PMEPA1	20	56227286	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87742	56227286	6798234	19572	27284											
PMEPA1	56937	broad.mit.edu	37	chr20	56227318	56227318	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgcgcccgccgctgccgtAgcacgtggcgctgatgcccg	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227318A>T	ENST00000341744.3	-	4	974	c.655T>A	c.(655-657)Tac>Aac	p.Y219N	PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y169N|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y184N|PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y169N|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y169N	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	219					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCGCTGCCGTAGCACGTGGCG	0.682													False	0	False	20:56227318	0	T	56227318	A	T	56227318	3	4	88	1	0	0	0	0	1	0	0	0	12201	420	15	5	212	5	PMEPA1	20	56227318	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32	56227318	6798202	19573	27285											
PMEPA1	56937	broad.mit.edu	37	chr20	56227521	56227521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcctccccgtctgacagcGagatggtgggtggcaggtcg	16	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227521G>A	ENST00000341744.3	-	4	771	c.452C>T	c.(451-453)tCg>tTg	p.S151L	PMEPA1_ENST00000395816.3_Missense_Mutation_p.S101L|PMEPA1_ENST00000347215.4_Missense_Mutation_p.S116L|PMEPA1_ENST00000265626.4_Missense_Mutation_p.S101L|PMEPA1_ENST00000395814.1_Missense_Mutation_p.S101L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	151					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GTCTGACAGCGAGATGGTGGG	0.701													False	0	False	20:56227521	0	A	56227521	G	A	56227521	3	1	88	1	0	0	0	0	1	0	0	0	12201	1059	37	1	415	1	PMEPA1	20	56227521	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203	56227521	6797999	19574	27286											
VAPB	9217	broad.mit.edu	37	chr20	57016098	57016098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaatgtaagaggctgcaaGgtgaagttcagaggctacgg	15	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57016098G>A	ENST00000475243.1	+	5	870	c.532G>A	c.(532-534)Ggt>Agt	p.G178S	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	178					cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			GAGGCTGCAAGGTGAAGTTCA	0.413													False	0	False	20:57016098	0	A	57016098	G	A	57016098	3	1	88	1	0	0	0	0	1	0	0	0	17206	1000	35	2	550	2	VAPB	20	57016098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	788577	57016098	6009422	19575	27287											
APCDD1L	164284	broad.mit.edu	37	chr20	57036492	57036492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggcgcacctcgcaccccGagctgacccaccagccgccc	10	22	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57036492G>A	ENST00000371149.3	-	4	1090	c.860C>T	c.(859-861)tCg>tTg	p.S287L	APCDD1L_ENST00000439429.1_Missense_Mutation_p.S298L|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	287						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CTCGCACCCCGAGCTGACCCA	0.687													False	0	True	20:57036492	0	A	57036492	G	A	57036492	3	1	88	1	0	0	0	0	1	0	0	0	768	1059	37	1	649	1	APCDD1L	20	57036492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20394	57036492	5989028	19576	27288											
STX16	8675	broad.mit.edu	37	chr20	57248758	57248758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaagatggtttgaaacaGcttcacaaggtaatatgtct	9	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57248758G>A	ENST00000371141.4	+	8	1588	c.864G>A	c.(862-864)caG>caA	p.Q288Q	STX16_ENST00000361770.5_Silent_p.Q271Q|STX16_ENST00000371132.4_Silent_p.Q267Q|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000359617.4_Silent_p.Q235Q|STX16-NPEPL1_ENST00000530122.1_Silent_p.Q288Q|STX16_ENST00000355957.5_Silent_p.Q271Q|STX16_ENST00000358029.4_Silent_p.Q284Q|STX16_ENST00000361830.3_Silent_p.Q288Q	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	288	t-SNARE coiled-coil homology.				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GTTTGAAACAGCTTCACAAGG	0.353													False	0	False	20:57248758	0	A	57248758	G	A	57248758	2	1	88	1	0	0	0	0	0	0	0	1	15421	962	34	2		2	STX16	20	57248758	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212266	57248758	5776762	19577	27289											
GNAS	2778	broad.mit.edu	37	chr20	57415518	57415518	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgagaccgagtccgaaatCgagtccgagaccgacttcga	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57415518C>T	ENST00000313949.7	+	1	746	c.357C>T	c.(355-357)atC>atT	p.I119I	GNAS_ENST00000371075.3_Silent_p.I119I|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Silent_p.I119I|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	134					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGTCCGAAATCGAGTCCGAGA	0.637			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			False	0	False	20:57415518	0	T	57415518	C	T	57415518	2	4	88	1	0	0	0	0	0	0	0	1	6555	874	31	1		1	GNAS	20	57415518	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166760	57415518	5610002	19578	27290											
GNAS	2778	broad.mit.edu	37	chr20	57415547	57415547	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccgacttcgagaccgagcCtgagaccgcccccaccactg	10	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57415547C>A	ENST00000313949.7	+	1	775	c.386C>A	c.(385-387)cCt>cAt	p.P129H	GNAS_ENST00000371075.3_Missense_Mutation_p.P129H|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.P129H|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	144					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGACCGAGCCTGAGACCGCC	0.647			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			False	0	False	20:57415547	0	A	57415547	C	A	57415547	3	1	88	1	0	0	0	0	1	0	0	0	6555	681	24	3	388	3	GNAS	20	57415547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	57415547	5609973	19579	27291											
GNAS	2778	broad.mit.edu	37	chr20	57429152	57429152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcgcctcccctctgggtcCcaggcgccatcggcagccca	11	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57429152C>T	ENST00000371100.4	+	1	1384	c.832C>T	c.(832-834)Cca>Tca	p.P278S	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P278S|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.P278S|GNAS_ENST00000306120.3_Silent_p.S214S	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCTCTGGGTCCCAGGCGCCAT	0.667			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			False	0	True	20:57429152	0	T	57429152	C	T	57429152	3	4	88	1	0	0	0	0	1	0	0	0	6555	623	22	2	1576	2	GNAS	20	57429152	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13605	57429152	5596368	19580	27292											
GNAS	2778	broad.mit.edu	37	chr20	57429164	57429164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgggtcccaggcgccatcGgcagcccatcccaagaggct	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57429164G>T	ENST00000371100.4	+	1	1396	c.844G>T	c.(844-846)Ggc>Tgc	p.G282C	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.G282C|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.G282C|GNAS_ENST00000306120.3_Silent_p.S218S	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGCGCCATCGGCAGCCCATC	0.692			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			False	0	False	20:57429164	0	T	57429164	G	T	57429164	3	4	88	1	0	0	0	0	1	0	0	0	6555	1116	39	3	1588	3	GNAS	20	57429164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	57429164	5596356	19581	27293											
GNAS	2778	broad.mit.edu	37	chr20	57484236	57484236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctggacaagatcgacGtgatcaagcaggctgactat	11	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57484236G>A	ENST00000371100.4	+	7	3031	c.2479G>A	c.(2479-2481)Gtg>Atg	p.V827M	GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.V170M|GNAS_ENST00000371095.3_Missense_Mutation_p.V170M|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.V169M|GNAS_ENST00000371102.4_Missense_Mutation_p.V813M|GNAS_ENST00000354359.7_Missense_Mutation_p.V185M|GNAS_ENST00000371085.3_Missense_Mutation_p.V184M	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	184					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CAAGATCGACGTGATCAAGCA	0.512			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			False	0	False	20:57484236	0	A	57484236	G	A	57484236	3	1	88	1	0	0	0	0	1	0	0	0	6555	1145	40	1	3393	1	GNAS	20	57484236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55072	57484236	5541284	19582	27294											
TUBB1	81027	broad.mit.edu	37	chr20	57598802	57598802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccaaaggccactacaCggagggagccgagctgatcg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57598802C>T	ENST00000217133.1	+	4	589	c.320C>T	c.(319-321)aCg>aTg	p.T107M		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	107					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCCACTACACGGAGGGAGCC	0.577													False	0	True	20:57598802	0	T	57598802	C	T	57598802	3	4	88	1	0	0	0	0	1	0	0	0	16837	536	19	1	334	1	TUBB1	20	57598802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114566	57598802	5426718	19583	27295											
TUBB1	81027	broad.mit.edu	37	chr20	57598897	57598897	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttccagatcgtccactccCtgggcgggggcacaggctcc	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57598897C>A	ENST00000217133.1	+	4	684	c.415C>A	c.(415-417)Ctg>Atg	p.L139M		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	139					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CGTCCACTCCCTGGGCGGGGG	0.592													False	0	True	20:57598897	0	A	57598897	C	A	57598897	3	1	88	1	0	0	0	0	1	0	0	0	16837	680	24	3	429	3	TUBB1	20	57598897	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95	57598897	5426623	19584	27296											
TUBB1	81027	broad.mit.edu	37	chr20	57599572	57599572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccccgggggctgagcatgGccgccaccttcattggcaac	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57599572G>A	ENST00000217133.1	+	4	1359	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	364					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GCTGAGCATGGCCGCCACCTT	0.547													False	0	False	20:57599572	0	A	57599572	G	A	57599572	3	1	88	1	0	0	0	0	1	0	0	0	16837	1203	42	2	1104	2	TUBB1	20	57599572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	675	57599572	5425948	19585	27297											
ZNF831	128611	broad.mit.edu	37	chr20	57766263	57766263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcccatcccactgtaCcacacggtgcctcccggggg	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766263C>T	ENST00000371030.2	+	1	189	c.189C>T	c.(187-189)taC>taT	p.Y63Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	63	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCCACTGTACCACACGGTGC	0.697													False	0	False	20:57766263	0	T	57766263	C	T	57766263	2	4	88	1	0	0	0	0	0	0	0	1	18267	518	18	2		2	ZNF831	20	57766263	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166691	57766263	5259257	19586	27298											
ZNF831	128611	broad.mit.edu	37	chr20	57766678	57766678	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctcaacaactcccggCtgtcctcagagtccgagggc	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766678C>A	ENST00000371030.2	+	1	604	c.604C>A	c.(604-606)Ctg>Atg	p.L202M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	202						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAACTCCCGGCTGTCCTCAGA	0.672													False	0	False	20:57766678	0	A	57766678	C	A	57766678	3	1	88	1	0	0	0	0	1	0	0	0	18267	796	28	3	606	3	ZNF831	20	57766678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415	57766678	5258842	19587	27299											
ZNF831	128611	broad.mit.edu	37	chr20	57766948	57766948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtcacctgggctcccaGcggccagcacacaaccctgg	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766948G>T	ENST00000371030.2	+	1	874	c.874G>T	c.(874-876)Gcg>Tcg	p.A292S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	292						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGGCTCCCAGCGGCCAGCAC	0.677													False	0	False	20:57766948	0	T	57766948	G	T	57766948	3	4	88	1	0	0	0	0	1	0	0	0	18267	971	34	3	876	3	ZNF831	20	57766948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270	57766948	5258572	19588	27300											
ZNF831	128611	broad.mit.edu	37	chr20	57767471	57767471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccaggccgtaggagggCcccgggccccgtgcgctcca	17	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57767471C>T	ENST00000371030.2	+	1	1397	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	466						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGTAGGAGGGCCCCGGGCCCC	0.662													False	0	True	20:57767471	0	T	57767471	C	T	57767471	3	4	88	1	0	0	0	0	1	0	0	0	18267	739	26	2	1399	2	ZNF831	20	57767471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	523	57767471	5258049	19589	27301											
ZNF831	128611	broad.mit.edu	37	chr20	57767889	57767889	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagggcagagcgggcggcagGaagtgcggccagagaaggct	20	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57767889G>A	ENST00000371030.2	+	1	1815	c.1815G>A	c.(1813-1815)agG>agA	p.R605R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	605						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGGGCGGCAGGAAGTGCGGCC	0.607													False	0	False	20:57767889	0	A	57767889	G	A	57767889	2	1	88	1	0	0	0	0	0	0	0	1	18267	1165	41	2		2	ZNF831	20	57767889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	418	57767889	5257631	19590	27302											
ZNF831	128611	broad.mit.edu	37	chr20	57829178	57829178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcagatgctcaaaggCcttcttcctttgggtccaaa	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57829178C>T	ENST00000371030.2	+	5	4414	c.4414C>T	c.(4414-4416)Cct>Tct	p.P1472S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1472						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCTCAAAGGCCTTCTTCCTT	0.498													False	0	False	20:57829178	0	T	57829178	C	T	57829178	3	4	88	1	0	0	0	0	1	0	0	0	18267	739	26	2	4432	2	ZNF831	20	57829178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61289	57829178	5196342	19591	27303											
ZNF831	128611	broad.mit.edu	37	chr20	57829317	57829317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcacgagaccacagccAgactgcagggaggactctga	12	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57829317A>G	ENST00000371030.2	+	5	4553	c.4553A>G	c.(4552-4554)cAg>cGg	p.Q1518R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1518						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACCACAGCCAGACTGCAGGG	0.527													False	0	False	20:57829317	0	G	57829317	A	G	57829317	3	3	88	1	0	0	0	0	1	0	0	0	18267	188	7	4	4571	4	ZNF831	20	57829317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	139	57829317	5196203	19592	27304											
EDN3	1908	broad.mit.edu	37	chr20	57896193	57896193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgcgctgcgcttgtgtgGggagatatgacaaggcctgc	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57896193G>A	ENST00000311585.7	+	3	857	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	EDN3_ENST00000371025.3_Missense_Mutation_p.G163R|EDN3_ENST00000395654.3_Missense_Mutation_p.G163R|EDN3_ENST00000337938.2_Missense_Mutation_p.G163R|EDN3_ENST00000371028.2_Missense_Mutation_p.G163R	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	163	Endothelin-like.				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CGCTTGTGTGGGGAGATATGA	0.552													False	0	True	20:57896193	0	A	57896193	G	A	57896193	3	1	88	1	0	0	0	0	1	0	0	0	4948	1232	43	2	497	2	EDN3	20	57896193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66876	57896193	5129327	19593	27305											
EDN3	1908	broad.mit.edu	37	chr20	57899506	57899506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctctttcaggaaggaGccccttaggaggacaggcct	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57899506G>A	ENST00000337938.2	+	5	1095	c.709G>A	c.(709-711)Gcc>Acc	p.A237T	EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000395654.3_Missense_Mutation_p.A223T|EDN3_ENST00000311585.7_3'UTR|EDN3_ENST00000371028.2_Missense_Mutation_p.A237T	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	237					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					TCAGGAAGGAGCCCCTTAGGA	0.557													False	0	True	20:57899506	0	A	57899506	G	A	57899506	3	1	88	1	0	0	0	0	1	0	0	0	4948	971	34	2	766	2	EDN3	20	57899506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3313	57899506	5126014	19594	27306											
SYCP2	10388	broad.mit.edu	37	chr20	58439413	58439413	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catgaatactgacatcagttCtctgcgtacattaagaagct	7	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58439413C>T	ENST00000357552.3	-	45	4771	c.4546G>A	c.(4546-4548)Gaa>Aaa	p.E1516K	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1516K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1516					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GACATCAGTTCTCTGCGTACA	0.303													False	0	False	20:58439413	0	T	58439413	C	T	58439413	3	4	88	1	0	0	0	0	1	0	0	0	15514	922	32	2	50	2	SYCP2	20	58439413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	539907	58439413	4586107	19595	27307											
SYCP2	10388	broad.mit.edu	37	chr20	58439431	58439431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgcgtacattaagaaGctcctcttctagctatagcc	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58439431G>A	ENST00000357552.3	-	45	4753	c.4528C>T	c.(4528-4530)Ctt>Ttt	p.L1510F	SYCP2_ENST00000371001.2_Missense_Mutation_p.L1510F			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1510					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACATTAAGAAGCTCCTCTTCT	0.303													False	0	False	20:58439431	0	A	58439431	G	A	58439431	3	1	88	1	0	0	0	0	1	0	0	0	15514	971	34	2	68	2	SYCP2	20	58439431	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	58439431	4586089	19596	27308											
SYCP2	10388	broad.mit.edu	37	chr20	58441414	58441414	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaattctccagctcctctatGataatgaattggaatttatc	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58441414G>A	ENST00000357552.3	-	41	4479	c.4254C>T	c.(4252-4254)atC>atT	p.I1418I	SYCP2_ENST00000371001.2_Silent_p.I1418I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1418					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GCTCCTCTATGATAATGAATT	0.244													False	0	False	20:58441414	0	A	58441414	G	A	58441414	2	1	88	1	0	0	0	0	0	0	0	1	15514	1280	45	2		2	SYCP2	20	58441414	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1983	58441414	4584106	19597	27309											
SYCP2	10388	broad.mit.edu	37	chr20	58441580	58441580	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gactttgatgattcattgttCtcagatgttgctgagctgtt	10	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58441580C>T	ENST00000357552.3	-	40	4415	c.4190G>A	c.(4189-4191)aGa>aAa	p.R1397K	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1397K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1397					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTCATTGTTCTCAGATGTTG	0.308													False	0	False	20:58441580	0	T	58441580	C	T	58441580	3	4	88	1	0	0	0	0	1	0	0	0	15514	913	32	2	426	2	SYCP2	20	58441580	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166	58441580	4583940	19598	27310											
SYCP2	10388	broad.mit.edu	37	chr20	58457164	58457164	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttacactgggcattcagaAgtaacattaacaaaggtagt	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58457164A>C	ENST00000357552.3	-	27	2811	c.2586T>G	c.(2584-2586)acT>acG	p.T862T	SYCP2_ENST00000371001.2_Silent_p.T862T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	862					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GGCATTCAGAAGTAACATTAA	0.289													False	0	False	20:58457164	0	C	58457164	A	C	58457164	2	2	88	1	0	0	0	0	0	0	0	1	15514	59	3	4		4	SYCP2	20	58457164	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15584	58457164	4568356	19599	27311											
SYCP2	10388	broad.mit.edu	37	chr20	58467404	58467404	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcttatatttcacttTtcctgttccttcagaattat	2	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58467404T>G	ENST00000357552.3	-	24	2230	c.2005A>C	c.(2005-2007)Aaa>Caa	p.K669Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.K669Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	669					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATTTCACTTTTCCTGTTCCT	0.279													False	0	True	20:58467404	0	G	58467404	T	G	58467404	3	3	88	1	0	0	0	0	1	0	0	0	15514	1850	64	4	2675	4	SYCP2	20	58467404	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10240	58467404	4558116	19600	27312											
SYCP2	10388	broad.mit.edu	37	chr20	58476773	58476773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attagtgatttctagtgatgCgtcaaaatacaaaagcaatt	7	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58476773C>T	ENST00000357552.3	-	16	1351	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	SYCP2_ENST00000371001.2_Missense_Mutation_p.A376T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	376					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTAGTGATGCGTCAAAATAC	0.274													False	0	False	20:58476773	0	T	58476773	C	T	58476773	3	4	88	1	0	0	0	0	1	0	0	0	15514	768	27	1	3586	1	SYCP2	20	58476773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9369	58476773	4548747	19601	27313											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514512	58514512	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcgacgggcggcgggaAatcgggcaccaggcaatgca	17	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58514512A>C	ENST00000370996.3	-	1	840	c.475T>G	c.(475-477)Ttc>Gtc	p.F159V	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	159					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GGCGGCGGGAAATCGGGCACC	0.672													False	0	True	20:58514512	0	C	58514512	A	C	58514512	3	2	88	1	0	0	0	0	1	0	0	0	12448	14	1	4	428	4	PPP1R3D	20	58514512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37739	58514512	4511008	19602	27314											
CDH26	60437	broad.mit.edu	37	chr20	58562651	58562651	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggggcattttgacatttcGactgaccctgagaccaacga	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58562651G>A	ENST00000348616.4	+	8	1281	c.981G>A	c.(979-981)tcG>tcA	p.S327S	CDH26_ENST00000244047.5_Silent_p.S327S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	327	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTGACATTTCGACTGACCCTG	0.453													False	0	False	20:58562651	0	A	58562651	G	A	58562651	2	1	88	1	0	0	0	0	0	0	0	1	3133	1045	37	1		1	CDH26	20	58562651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48139	58562651	4462869	19603	27315											
CDH26	60437	broad.mit.edu	37	chr20	58569416	58569416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggaggtctgtgagtctgCtgtgcatgagcccctccaca	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569416C>T	ENST00000348616.4	+	11	1838	c.1538C>T	c.(1537-1539)gCt>gTt	p.A513V	CDH26_ENST00000244047.5_Missense_Mutation_p.A513V|CDH26_ENST00000497614.1_3'UTR	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	513					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGTGAGTCTGCTGTGCATGAG	0.552													False	0	False	20:58569416	0	T	58569416	C	T	58569416	3	4	88	1	0	0	0	0	1	0	0	0	3133	797	28	2	1580	2	CDH26	20	58569416	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6765	58569416	4456104	19604	27316											
CDH26	60437	broad.mit.edu	37	chr20	58569448	58569448	+	Missense_Mutation	SNP	G	G	A													ccctccacatcgaggcagagGatccggacctggagccgttc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569448G>A	ENST00000348616.4	+	11	1870	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	CDH26_ENST00000244047.5_Missense_Mutation_p.D524N|CDH26_ENST00000497614.1_3'UTR	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	524					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CGAGGCAGAGGATCCGGACCT	0.547													False	0	False	20:58569448	0	A	58569448	G	A	58569448	3	1	88	1	0	0	0	0	1	0	0	0	3133	1174	41	2	1612	2	CDH26	20	58569448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32	58569448	4456072	19605	27317	283	2									
CDH26	60437	broad.mit.edu	37	chr20	58569449	58569449	+	Missense_Mutation	SNP	A	A	C													cctccacatcgaggcagaggAtccggacctggagccgttct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569449A>C	ENST00000348616.4	+	11	1871	c.1571A>C	c.(1570-1572)gAt>gCt	p.D524A	CDH26_ENST00000244047.5_Missense_Mutation_p.D524A|CDH26_ENST00000497614.1_3'UTR	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	524					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GAGGCAGAGGATCCGGACCTG	0.547													False	0	False	20:58569449	0	C	58569449	A	C	58569449	3	2	88	1	0	0	0	0	1	0	0	0	3133	333	12	4	1613	4	CDH26	20	58569449	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1	58569449	4456071	19606	27318	283	2									
CDH26	60437	broad.mit.edu	37	chr20	58587641	58587641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctacctcacgtctacagCgaggaaggggagtgtggagg	15	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58587641C>T	ENST00000348616.4	+	18	2655	c.2355C>T	c.(2353-2355)agC>agT	p.S785S	CDH26_ENST00000244049.3_Silent_p.S77S|CDH26_ENST00000244047.5_Intron|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Silent_p.S118S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACGTCTACAGCGAGGAAGGGG	0.547													False	0	False	20:58587641	0	T	58587641	C	T	58587641	2	4	88	1	0	0	0	0	0	0	0	1	3133	767	27	1		1	CDH26	20	58587641	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18192	58587641	4437879	19607	27319											
CDH4	1002	broad.mit.edu	37	chr20	60448855	60448855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacgggatggtgcggtacCggatcgtgacccagacccca	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60448855C>T	ENST00000360469.5	+	7	1037	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	CDH4_ENST00000543233.1_Missense_Mutation_p.R243W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	317	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGTGCGGTACCGGATCGTGAC	0.612													False	0	False	20:60448855	0	T	60448855	C	T	60448855	3	4	88	1	0	0	0	0	1	0	0	0	3135	643	23	1	975	1	CDH4	20	60448855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1861214	60448855	2576665	19608	27320											
CDH4	1002	broad.mit.edu	37	chr20	60498707	60498707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgtgccccccggcaccGtgctgaccacgttttcagct	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60498707G>A	ENST00000360469.5	+	10	1661	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	CDH4_ENST00000543233.1_Missense_Mutation_p.V451M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	525	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCCGGCACCGTGCTGACCAC	0.632													False	0	False	20:60498707	0	A	60498707	G	A	60498707	3	1	88	1	0	0	0	0	1	0	0	0	3135	1145	40	1	1611	1	CDH4	20	60498707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49852	60498707	2526813	19609	27321											
CDH4	1002	broad.mit.edu	37	chr20	60504702	60504702	+	Silent	SNP	C	C	T													tcagcttgcgcatcctgtacCtggaggccgggatgtatgac					rs8122772		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60504702C>T	ENST00000360469.5	+	13	2129	c.2041C>T	c.(2041-2043)Ctg>Ttg	p.L681L	CDH4_ENST00000543233.1_Silent_p.L607L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	681	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CATCCTGTACCTGGAGGCCGG	0.547													False	0	False	20:60504702	0	T	60504702	C	T	60504702	2	4	88	1	0	0	0	0	0	0	0	1	3135	680	24	2		2	CDH4	20	60504702	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5995	60504702	2520818	19610	27322	284	2									
CDH4	1002	broad.mit.edu	37	chr20	60504709	60504709	+	Missense_Mutation	SNP	C	C	T													gcgcatcctgtacctggaggCcgggatgtatgacgtcccca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60504709C>T	ENST00000360469.5	+	13	2136	c.2048C>T	c.(2047-2049)gCc>gTc	p.A683V	CDH4_ENST00000543233.1_Missense_Mutation_p.A609V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	683	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TACCTGGAGGCCGGGATGTAT	0.542													False	0	False	20:60504709	0	T	60504709	C	T	60504709	3	4	88	1	0	0	0	0	1	0	0	0	3135	739	26	2	2098	2	CDH4	20	60504709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	60504709	2520811	19611	27323	284	2									
TAF4	6874	broad.mit.edu	37	chr20	60575234	60575234	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatattttctctacaagattCtgtagcctttgttgcgtggc	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60575234C>A	ENST00000252996.4	-	11	2732	c.2733G>T	c.(2731-2733)caG>caT	p.Q911H		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTACAAGATTCTGTAGCCTTT	0.408													False	0	False	20:60575234	0	A	60575234	C	A	60575234	3	1	88	1	0	0	0	0	1	0	0	0	15608	912	32	3	544	3	TAF4	20	60575234	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70525	60575234	2450286	19612	27324											
TAF4	6874	broad.mit.edu	37	chr20	60581569	60581569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgccccttccataccagCggtgtgggttgcccctgctt	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60581569C>T	ENST00000252996.4	-	7	2219	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCCATACCAGCGGTGTGGGTT	0.657													False	0	False	20:60581569	0	T	60581569	C	T	60581569	2	4	88	1	0	0	0	0	0	0	0	1	15608	755	27	1		1	TAF4	20	60581569	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6335	60581569	2443951	19613	27325											
TAF4	6874	broad.mit.edu	37	chr20	60585189	60585189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccgtcccaagtgaagcCgtctgggcagcgccacccag	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60585189C>T	ENST00000252996.4	-	4	1673	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CAAGTGAAGCCGTCTGGGCAG	0.622													False	0	False	20:60585189	0	T	60585189	C	T	60585189	2	4	88	1	0	0	0	0	0	0	0	1	15608	639	23	1		1	TAF4	20	60585189	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3620	60585189	2440331	19614	27326											
OSBPL2	9885	broad.mit.edu	37	chr20	60861650	60861650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttcaggatgaagactcCgggaaggctgacagcgacgt	15	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60861650C>T	ENST00000313733.3	+	11	1210	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	OSBPL2_ENST00000358053.2_Silent_p.S324S|OSBPL2_ENST00000439951.2_Silent_p.S244S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	336					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			ATGAAGACTCCGGGAAGGCTG	0.627													False	0	True	20:60861650	0	T	60861650	C	T	60861650	2	4	88	1	0	0	0	0	0	0	0	1	11346	639	23	1		1	OSBPL2	20	60861650	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	276461	60861650	2163870	19615	27327											
OSBPL2	9885	broad.mit.edu	37	chr20	60864297	60864297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcactgtgagcctcaAcgagctggagacaggcatgg	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60864297A>G	ENST00000313733.3	+	12	1362	c.1160A>G	c.(1159-1161)aAc>aGc	p.N387S	OSBPL2_ENST00000358053.2_Missense_Mutation_p.N375S|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	387					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTGAGCCTCAACGAGCTGGAG	0.582													False	0	False	20:60864297	0	G	60864297	A	G	60864297	3	3	88	1	0	0	0	0	1	0	0	0	11346	43	2	4	1202	4	OSBPL2	20	60864297	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2647	60864297	2161223	19616	27328											
LAMA5	3911	broad.mit.edu	37	chr20	60895841	60895841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtgcagacgggcccagGccatggagctggcattgatg	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60895841G>T	ENST00000252999.3	-	49	6668	c.6602C>A	c.(6601-6603)gCc>gAc	p.A2201D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2201	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGGGCCCAGGCCATGGAGCT	0.667													False	0	False	20:60895841	0	T	60895841	G	T	60895841	3	4	88	1	0	0	0	0	1	0	0	0	8660	1203	42	3	4613	3	LAMA5	20	60895841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31544	60895841	2129679	19617	27329											
LAMA5	3911	broad.mit.edu	37	chr20	60900582	60900582	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgggacacagtgttgcgcgtCtccgtatgccggaagttccc	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60900582C>T	ENST00000252999.3	-	41	5385	c.5319G>A	c.(5317-5319)gaG>gaA	p.E1773E		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1773	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTGCGCGTCTCCGTATGCC	0.617													False	0	False	20:60900582	0	T	60900582	C	T	60900582	2	4	88	1	0	0	0	0	0	0	0	1	8660	912	32	2		2	LAMA5	20	60900582	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4741	60900582	2124938	19618	27330											
LAMA5	3911	broad.mit.edu	37	chr20	60902995	60902995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgtgacagtcacaggggCggcagcgggggtagccatgg	18	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60902995C>T	ENST00000252999.3	-	36	4790	c.4724G>A	c.(4723-4725)cGc>cAc	p.R1575H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1575	Laminin EGF-like 14.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.R1575H(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCACAGGGGCGGCAGCGGGG	0.682													False	0	True	20:60902995	0	T	60902995	C	T	60902995	3	4	88	1	0	0	0	0	1	0	0	0	8660	768	27	1	6543	1	LAMA5	20	60902995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2413	60902995	2122525	19619	27331											
LAMA5	3911	broad.mit.edu	37	chr20	60903983	60903983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatggcagggacactggCccccgaagggctcacacgtg	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60903983C>T	ENST00000252999.3	-	34	4430	c.4364G>A	c.(4363-4365)gGc>gAc	p.G1455D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1455	Laminin EGF-like 12.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGACACTGGCCCCCGAAGGG	0.627													False	0	True	20:60903983	0	T	60903983	C	T	60903983	3	4	88	1	0	0	0	0	1	0	0	0	8660	739	26	2	6911	2	LAMA5	20	60903983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	988	60903983	2121537	19620	27332											
LAMA5	3911	broad.mit.edu	37	chr20	60906108	60906108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttggggccaaaggcgccGtggctgctgatgcagctgac	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60906108G>A	ENST00000252999.3	-	29	3696	c.3630C>T	c.(3628-3630)caC>caT	p.H1210H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1210	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAAGGCGCCGTGGCTGCTGA	0.687													False	0	False	20:60906108	0	A	60906108	G	A	60906108	2	1	88	1	0	0	0	0	0	0	0	1	8660	1136	40	1		1	LAMA5	20	60906108	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2125	60906108	2119412	19621	27333											
LAMA5	3911	broad.mit.edu	37	chr20	60913186	60913186	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagccctcgggcaaggttcCtgcagggctgcagccacaca	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60913186C>A	ENST00000252999.3	-	14	1843	c.1777G>T	c.(1777-1779)Gga>Tga	p.G593*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	593	Laminin EGF-like 6.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAAGGTTCCTGCAGGGCTG	0.672													False	0	False	20:60913186	0	A	60913186	C	A	60913186	4	1	88	1	0	0	0	0	0	1	0	0	8660	690	24	3	9578	3	LAMA5	20	60913186	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7078	60913186	2112334	19622	27334											
LAMA5	3911	broad.mit.edu	37	chr20	60921612	60921612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgggagagcggtagaagCcgggcaggcagcgctcacag	19	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60921612C>T	ENST00000252999.3	-	9	1298	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	LAMA5_ENST00000370692.3_Missense_Mutation_p.G411D|LAMA5_ENST00000370677.3_Missense_Mutation_p.G411D	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	411	Laminin EGF-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGGTAGAAGCCGGGCAGGCA	0.687													False	0	False	20:60921612	0	T	60921612	C	T	60921612	3	4	88	1	0	0	0	0	1	0	0	0	8660	739	26	2	10143	2	LAMA5	20	60921612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8426	60921612	2103908	19623	27335											
LAMA5	3911	broad.mit.edu	37	chr20	60922054	60922054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggtcgcaggtgcccccGcaggtgttgtgctggcaggt	17	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60922054G>A	ENST00000252999.3	-	7	1053	c.987C>T	c.(985-987)tgC>tgT	p.C329C	LAMA5_ENST00000370692.3_Silent_p.C329C|LAMA5_ENST00000370677.3_Silent_p.C329C	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	329	Laminin EGF-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGTGCCCCCGCAGGTGTTGT	0.662													False	0	True	20:60922054	0	A	60922054	G	A	60922054	2	1	88	1	0	0	0	0	0	0	0	1	8660	1079	38	1		1	LAMA5	20	60922054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	442	60922054	2103466	19624	27336											
LAMA5	3911	broad.mit.edu	37	chr20	60926993	60926993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccgtggggtcccgcagcGccttccccatgagatggccc	13	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60926993G>A	ENST00000252999.3	-	5	896	c.830C>T	c.(829-831)gCg>gTg	p.A277V	LAMA5_ENST00000370692.3_Missense_Mutation_p.A277V|LAMA5_ENST00000370677.3_Missense_Mutation_p.A277V	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	277	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCCCGCAGCGCCTTCCCCAT	0.697													False	0	False	20:60926993	0	A	60926993	G	A	60926993	3	1	88	1	0	0	0	0	1	0	0	0	8660	1087	38	1	10561	1	LAMA5	20	60926993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4939	60926993	2098527	19625	27337											
LAMA5	3911	broad.mit.edu	37	chr20	60927304	60927304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccccggcccacctctccGttctccaggggcacgatgcg	10	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60927304G>A	ENST00000252999.3	-	4	747	c.681C>T	c.(679-681)aaC>aaT	p.N227N	LAMA5_ENST00000370692.3_Silent_p.N227N|LAMA5_ENST00000370677.3_Silent_p.N227N	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	227	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ccacctctccGTTCTCCAGGG	0.692													False	0	False	20:60927304	0	A	60927304	G	A	60927304	2	1	88	1	0	0	0	0	0	0	0	1	8660	1136	40	1		1	LAMA5	20	60927304	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311	60927304	2098216	19626	27338											
SLCO4A1	28231	broad.mit.edu	37	chr20	61303134	61303134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctttgccatagcctgCttcttatacaagcccctgtc	5	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61303134C>T	ENST00000217159.1	+	12	2263	c.2058C>T	c.(2056-2058)tgC>tgT	p.C686C	SLCO4A1_ENST00000370507.1_Silent_p.C686C	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	686					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CCATAGCCTGCTTCTTATACA	0.607													False	0	False	20:61303134	0	T	61303134	C	T	61303134	2	4	88	1	0	0	0	0	0	0	0	1	14809	805	28	2		2	SLCO4A1	20	61303134	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375830	61303134	1722386	19627	27339											
OGFR	11054	broad.mit.edu	37	chr20	61443875	61443875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagctctctgccccatcCgctcgagggctccaggaagg	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61443875C>T	ENST00000370461.1	+	5	3029	c.752C>T	c.(751-753)cCg>cTg	p.P251L	OGFR_ENST00000290291.6_Missense_Mutation_p.P303L			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	303					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CTGCCCCATCCGCTCGAGGGC	0.677													False	0	False	20:61443875	0	T	61443875	C	T	61443875	3	4	88	1	0	0	0	0	1	0	0	0	10911	652	23	1	934	1	OGFR	20	61443875	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140741	61443875	1581645	19628	27340											
TCFL5	10732	broad.mit.edu	37	chr20	61488887	61488887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtggcggtggcaccttcGcccacattctgaatctctcc	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61488887G>A	ENST00000335351.3	-	4	1190	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	TCFL5_ENST00000217162.5_Silent_p.G318G	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	366					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	p.G366G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TGGCACCTTCGCCCACATTCT	0.582													False	0	True	20:61488887	0	A	61488887	G	A	61488887	2	1	88	1	0	0	0	0	0	0	0	1	15781	1074	38	1		1	TCFL5	20	61488887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45012	61488887	1536633	19629	27341											
DIDO1	11083	broad.mit.edu	37	chr20	61511392	61511392	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaatcttggtggtgaatgGaccctctggtcttcgaactg	13	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61511392G>A	ENST00000266070.4	-	16	6241	c.5916C>T	c.(5914-5916)gtC>gtT	p.V1972V	DIDO1_ENST00000395343.1_Silent_p.V1972V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1972	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGGTGAATGGACCCTCTGGT	0.562													False	0	False	20:61511392	0	A	61511392	G	A	61511392	2	1	88	1	0	0	0	0	0	0	0	1	4552	1161	41	2		2	DIDO1	20	61511392	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22505	61511392	1514128	19630	27342											
DIDO1	11083	broad.mit.edu	37	chr20	61512121	61512121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggggcggtgccctcgccGggtctggcctgtggctctct	17	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61512121G>A	ENST00000266070.4	-	16	5512	c.5187C>T	c.(5185-5187)ccC>ccT	p.P1729P	DIDO1_ENST00000395343.1_Silent_p.P1729P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1729	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCCCTCGCCGGGTCTGGCCT	0.637													False	0	True	20:61512121	0	A	61512121	G	A	61512121	2	1	88	1	0	0	0	0	0	0	0	1	4552	1103	39	1		1	DIDO1	20	61512121	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	729	61512121	1513399	19631	27343											
DIDO1	11083	broad.mit.edu	37	chr20	61512142	61512142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctggcctgtggctctctGtccccctctgtttcacctgc	10	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61512142G>A	ENST00000266070.4	-	16	5491	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	DIDO1_ENST00000395343.1_Silent_p.D1722D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1722					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGGCTCTCTGTCCCCCTCTG	0.647													False	0	True	20:61512142	0	A	61512142	G	A	61512142	2	1	88	1	0	0	0	0	0	0	0	1	4552	1368	48	2		2	DIDO1	20	61512142	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	61512142	1513378	19632	27344											
DIDO1	11083	broad.mit.edu	37	chr20	61513253	61513253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggaggtgccggcaccccgTcctctgctgtggttttgggc	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61513253T>C	ENST00000266070.4	-	16	4380	c.4055A>G	c.(4054-4056)gAc>gGc	p.D1352G	DIDO1_ENST00000395343.1_Missense_Mutation_p.D1352G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1352					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGGCACCCCGTCCTCTGCTGT	0.577													False	0	False	20:61513253	0	C	61513253	T	C	61513253	3	2	88	1	0	0	0	0	1	0	0	0	4552	1667	58	4	2671	4	DIDO1	20	61513253	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1111	61513253	1512267	19633	27345											
DIDO1	11083	broad.mit.edu	37	chr20	61513636	61513636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttttggataggccggaacGtccgcttcttccggttgaag	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61513636G>A	ENST00000266070.4	-	16	3997	c.3672C>T	c.(3670-3672)gaC>gaT	p.D1224D	DIDO1_ENST00000395343.1_Silent_p.D1224D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1224					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGCCGGAACGTCCGCTTCTT	0.532													False	0	False	20:61513636	0	A	61513636	G	A	61513636	2	1	88	1	0	0	0	0	0	0	0	1	4552	1136	40	1		1	DIDO1	20	61513636	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383	61513636	1511884	19634	27346											
DIDO1	11083	broad.mit.edu	37	chr20	61522306	61522306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccacccagaaagccggcGcttacctggtccctcaaagg	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61522306G>A	ENST00000395335.2	-	15	3872	c.3547C>T	c.(3547-3549)Cgc>Tgc	p.R1183C	DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000395343.1_Intron|DIDO1_ENST00000395340.1_Missense_Mutation_p.R1183C	NM_080797.3	NP_542987.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	0					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAAGCCGGCGCTTACCTGGT	0.617													False	0	False	20:61522306	0	A	61522306	G	A	61522306	3	1	88	1	0	0	0	0	1	0	0	0	4552	1087	38	1	3212	1	DIDO1	20	61522306	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8670	61522306	1503214	19635	27347											
DIDO1	11083	broad.mit.edu	37	chr20	61525063	61525063	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaggtatcttgggtcaggaGatgaggatggcttagctagt	15	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61525063G>A	ENST00000266070.4	-	12	3381	c.3056C>T	c.(3055-3057)tCt>tTt	p.S1019F	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1019F|DIDO1_ENST00000395340.1_Missense_Mutation_p.S1019F|DIDO1_ENST00000395335.2_Missense_Mutation_p.S1019F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1019					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGTCAGGAGATGAGGATGG	0.488													False	0	False	20:61525063	0	A	61525063	G	A	61525063	3	1	88	1	0	0	0	0	1	0	0	0	4552	942	33	2	3715	2	DIDO1	20	61525063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2757	61525063	1500457	19636	27348											
DIDO1	11083	broad.mit.edu	37	chr20	61525105	61525105	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggacttgggcaccatcacaGaagtcaagacaggcttcggc	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61525105G>T	ENST00000266070.4	-	12	3339	c.3014C>A	c.(3013-3015)tCt>tAt	p.S1005Y	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395340.1_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395335.2_Missense_Mutation_p.S1005Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1005					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CACCATCACAGAAGTCAAGAC	0.557													False	0	False	20:61525105	0	T	61525105	G	T	61525105	3	4	88	1	0	0	0	0	1	0	0	0	4552	942	33	3	3757	3	DIDO1	20	61525105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	61525105	1500415	19637	27349											
DIDO1	11083	broad.mit.edu	37	chr20	61528081	61528081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcagccgttgccgctGcaggtgccggtccggcctgc	17	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61528081G>A	ENST00000266070.4	-	7	2181	c.1856C>T	c.(1855-1857)gCa>gTa	p.A619V	DIDO1_ENST00000395343.1_Missense_Mutation_p.A619V|DIDO1_ENST00000395340.1_Missense_Mutation_p.A619V|DIDO1_ENST00000395335.2_Missense_Mutation_p.A619V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	619					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTTGCCGCTGCAGGTGCCGG	0.642													False	0	False	20:61528081	0	A	61528081	G	A	61528081	3	1	88	1	0	0	0	0	1	0	0	0	4552	1319	46	2	4935	2	DIDO1	20	61528081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2976	61528081	1497439	19638	27350											
DIDO1	11083	broad.mit.edu	37	chr20	61537393	61537393	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaccactgccttcttcacTgtggtctcttttttttctgg	6	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61537393T>C	ENST00000266070.4	-	6	1759	c.1434A>G	c.(1432-1434)acA>acG	p.T478T	DIDO1_ENST00000370366.1_Silent_p.T478T|DIDO1_ENST00000370371.4_Silent_p.T478T|DIDO1_ENST00000395343.1_Silent_p.T478T|DIDO1_ENST00000370368.1_Silent_p.T478T|DIDO1_ENST00000266071.5_Silent_p.T478T|DIDO1_ENST00000395340.1_Silent_p.T478T|DIDO1_ENST00000395335.2_Silent_p.T478T|DIDO1_ENST00000354665.4_Silent_p.T478T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	478					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCTTCTTCACTGTGGTCTCTT	0.488													False	0	False	20:61537393	0	C	61537393	T	C	61537393	2	2	88	1	0	0	0	0	0	0	0	1	4552	1567	55	4		4	DIDO1	20	61537393	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9312	61537393	1488127	19639	27351											
DIDO1	11083	broad.mit.edu	37	chr20	61541345	61541345	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatcgccatgaaaccattcTtcacagcggtcacagcaaat	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61541345T>A	ENST00000266070.4	-	4	1192	c.867A>T	c.(865-867)gaA>gaT	p.E289D	DIDO1_ENST00000370366.1_Missense_Mutation_p.E289D|DIDO1_ENST00000370371.4_Missense_Mutation_p.E289D|DIDO1_ENST00000395343.1_Missense_Mutation_p.E289D|DIDO1_ENST00000370368.1_Missense_Mutation_p.E289D|DIDO1_ENST00000266071.5_Missense_Mutation_p.E289D|DIDO1_ENST00000395340.1_Missense_Mutation_p.E289D|DIDO1_ENST00000395335.2_Missense_Mutation_p.E289D|DIDO1_ENST00000354665.4_Missense_Mutation_p.E289D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	289					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAACCATTCTTCACAGCGGT	0.428													False	0	False	20:61541345	0	A	61541345	T	A	61541345	3	1	88	1	0	0	0	0	1	0	0	0	4552	1606	56	5	6037	5	DIDO1	20	61541345	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3952	61541345	1484175	19640	27352											
DIDO1	11083	broad.mit.edu	37	chr20	61542332	61542332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcttactgggcaggacGccctccacagtgtcactggc	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542332G>A	ENST00000266070.4	-	3	958	c.633C>T	c.(631-633)ggC>ggT	p.G211G	DIDO1_ENST00000370366.1_Silent_p.G211G|DIDO1_ENST00000370371.4_Silent_p.G211G|DIDO1_ENST00000395343.1_Silent_p.G211G|DIDO1_ENST00000370368.1_Silent_p.G211G|DIDO1_ENST00000266071.5_Silent_p.G211G|DIDO1_ENST00000395340.1_Silent_p.G211G|DIDO1_ENST00000395335.2_Silent_p.G211G|DIDO1_ENST00000354665.4_Silent_p.G211G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	211					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G211G(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGCAGGACGCCCTCCACAG	0.637													False	0	True	20:61542332	0	A	61542332	G	A	61542332	2	1	88	1	0	0	0	0	0	0	0	1	4552	1074	38	1		1	DIDO1	20	61542332	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	987	61542332	1483188	19641	27353											
DIDO1	11083	broad.mit.edu	37	chr20	61542497	61542497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttcaaggtcaggccatcGctgtcactatcggaggtgtc	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542497G>A	ENST00000266070.4	-	3	793	c.468C>T	c.(466-468)agC>agT	p.S156S	DIDO1_ENST00000370366.1_Silent_p.S156S|DIDO1_ENST00000370371.4_Silent_p.S156S|DIDO1_ENST00000395343.1_Silent_p.S156S|DIDO1_ENST00000370368.1_Silent_p.S156S|DIDO1_ENST00000266071.5_Silent_p.S156S|DIDO1_ENST00000395340.1_Silent_p.S156S|DIDO1_ENST00000395335.2_Silent_p.S156S|DIDO1_ENST00000354665.4_Silent_p.S156S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	156					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCAGGCCATCGCTGTCACTAT	0.587													False	0	False	20:61542497	0	A	61542497	G	A	61542497	2	1	88	1	0	0	0	0	0	0	0	1	4552	1078	38	1		1	DIDO1	20	61542497	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165	61542497	1483023	19642	27354											
DIDO1	11083	broad.mit.edu	37	chr20	61542721	61542721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctcctgccgcggcgccGcgcaatggtcaggaactgct	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542721G>A	ENST00000266070.4	-	3	569	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	DIDO1_ENST00000370366.1_Missense_Mutation_p.R82W|DIDO1_ENST00000370371.4_Missense_Mutation_p.R82W|DIDO1_ENST00000395343.1_Missense_Mutation_p.R82W|DIDO1_ENST00000370368.1_Missense_Mutation_p.R82W|DIDO1_ENST00000266071.5_Missense_Mutation_p.R82W|DIDO1_ENST00000395340.1_Missense_Mutation_p.R82W|DIDO1_ENST00000395335.2_Missense_Mutation_p.R82W|DIDO1_ENST00000354665.4_Missense_Mutation_p.R82W	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	82					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCGCGGCGCCGCGCAATGGTC	0.711													False	0	False	20:61542721	0	A	61542721	G	A	61542721	3	1	88	1	0	0	0	0	1	0	0	0	4552	1086	38	1	6664	1	DIDO1	20	61542721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224	61542721	1482799	19643	27355											
SLC17A9	63910	broad.mit.edu	37	chr20	61594714	61594714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggctcttccggaagcctGctgtctggtgagctgggacc	15	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61594714G>A	ENST00000370349.3	+	7	904	c.700G>A	c.(700-702)Gct>Act	p.A234T	SLC17A9_ENST00000370351.4_Missense_Mutation_p.A240T|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	240					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCGGAAGCCTGCTGTCTGGTG	0.662													False	0	False	20:61594714	0	A	61594714	G	A	61594714	3	1	88	1	0	0	0	0	1	0	0	0	14505	1319	46	2	740	2	SLC17A9	20	61594714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51993	61594714	1430806	19644	27356											
SLC17A9	63910	broad.mit.edu	37	chr20	61598818	61598818	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtttggacaggctcagaGggtggacctgagctctaccc	15	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61598818G>T	ENST00000370349.3	+	14	1463	c.1259G>T	c.(1258-1260)aGg>aTg	p.R420M	SLC17A9_ENST00000370351.4_Missense_Mutation_p.R426M|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	426					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CAGGCTCAGAGGGTGGACCTG	0.612													False	0	True	20:61598818	0	T	61598818	G	T	61598818	3	4	88	1	0	0	0	0	1	0	0	0	14505	1000	35	3	1327	3	SLC17A9	20	61598818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4104	61598818	1426702	19645	27357											
BHLHE23	128408	broad.mit.edu	37	chr20	61637625	61637625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggcctgcgcctgcatgaGgatatagttcttggcgagca	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61637625G>T	ENST00000370346.2	-	1	762	c.454C>A	c.(454-456)Ctc>Atc	p.L152I		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	152	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding			NS(1)	1						GCCTGCATGAGGATATAGTTC	0.697													False	0	False	20:61637625	0	T	61637625	G	T	61637625	3	4	88	1	0	0	0	0	1	0	0	0	1427	1000	35	3	227	3	BHLHE23	20	61637625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38807	61637625	1387895	19646	27358											
YTHDF1	54915	broad.mit.edu	37	chr20	61834989	61834989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcccaaaaacagcatcGtgcataaaatgatggtctcc	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61834989G>A	ENST00000370339.3	-	4	644	c.303C>T	c.(301-303)caC>caT	p.H101H	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.H51H	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	101										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AAACAGCATCGTGCATAAAAT	0.532													False	0	False	20:61834989	0	A	61834989	G	A	61834989	2	1	88	1	0	0	0	0	0	0	0	1	17582	1136	40	1		1	YTHDF1	20	61834989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197364	61834989	1190531	19647	27359											
ARFGAP1	55738	broad.mit.edu	37	chr20	61907992	61907992	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcagagccgcggccctcTttagggataaggtagagatg	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61907992T>G	ENST00000370275.4	+	4	423	c.331T>G	c.(331-333)Ttt>Gtt	p.F111V	ARFGAP1_ENST00000547204.1_Missense_Mutation_p.F37V|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.F111V|ARFGAP1_ENST00000519273.2_Silent_p.S31S|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.F111V|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.F58V	NM_001281482.1	NP_001268411.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	111	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CGCGGCCCTCTTTAGGGATAA	0.562													False	0	True	20:61907992	0	G	61907992	T	G	61907992	3	3	88	1	0	0	0	0	1	0	0	0	851	1609	56	4	341	4	ARFGAP1	20	61907992	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	73003	61907992	1117528	19648	27360											
COL20A1	57642	broad.mit.edu	37	chr20	61926468	61926468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccgagcaccatgagctcCggagaccctgcacacctcgg	11	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61926468C>T	ENST00000422202.1	+	1	77	c.9C>T	c.(7-9)tcC>tcT	p.S3S	COL20A1_ENST00000435874.1_Silent_p.S3S|COL20A1_ENST00000326996.6_Silent_p.S3S|COL20A1_ENST00000358894.6_Silent_p.S3S			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	3					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCATGAGCTCCGGAGACCCTG	0.647													False	0	False	20:61926468	0	T	61926468	C	T	61926468	2	4	88	1	0	0	0	0	0	0	0	1	3702	639	23	1		1	COL20A1	20	61926468	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18476	61926468	1099052	19649	27361											
COL20A1	57642	broad.mit.edu	37	chr20	61958146	61958146	+	Nonsense_Mutation	SNP	C	C	T													ccaggggcactagtggagagCgaggacctccagggaccgtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61958146C>T	ENST00000422202.1	+	30	3588	c.3520C>T	c.(3520-3522)Cga>Tga	p.R1174*	COL20A1_ENST00000435874.1_Nonsense_Mutation_p.R1174*|COL20A1_ENST00000326996.6_Nonsense_Mutation_p.R1199*|COL20A1_ENST00000358894.6_Nonsense_Mutation_p.R1167*			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1167	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TAGTGGAGAGCGAGGACCTCC	0.617													False	0	False	20:61958146	0	T	61958146	C	T	61958146	4	4	88	1	0	0	0	0	0	1	0	0	3702	760	27	1	3559	1	COL20A1	20	61958146	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31678	61958146	1067374	19650	27362	285	2									
COL20A1	57642	broad.mit.edu	37	chr20	61958155	61958155	+	Missense_Mutation	SNP	C	C	A													ctagtggagagcgaggacctCcagggaccgtggggcccaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61958155C>A	ENST00000422202.1	+	30	3597	c.3529C>A	c.(3529-3531)Cca>Aca	p.P1177T	COL20A1_ENST00000435874.1_Missense_Mutation_p.P1177T|COL20A1_ENST00000326996.6_Missense_Mutation_p.P1202T|COL20A1_ENST00000358894.6_Missense_Mutation_p.P1170T			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1170	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCGAGGACCTCCAGGGACCGT	0.622													False	0	False	20:61958155	0	A	61958155	C	A	61958155	3	1	88	1	0	0	0	0	1	0	0	0	3702	855	30	3	3568	3	COL20A1	20	61958155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	61958155	1067365	19651	27363	285	2									
CHRNA4	1137	broad.mit.edu	37	chr20	61981304	61981304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacacagtactggatgctccGagaccggcaccggacgccgc	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981304G>A	ENST00000370263.4	-	5	1680	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	487					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TGGATGCTCCGAGACCGGCAC	0.701													False	0	False	20:61981304	0	A	61981304	G	A	61981304	3	1	88	1	0	0	0	0	1	0	0	0	3408	1057	37	1	432	1	CHRNA4	20	61981304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23149	61981304	1044216	19652	27364											
CHRNA4	1137	broad.mit.edu	37	chr20	61981707	61981707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgaggagcaggcgtggCacgatgtccaggaagaccct	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981707C>T	ENST00000370263.4	-	5	1277	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	352					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCAGGCGTGGCACGATGTCCA	0.632													False	0	False	20:61981707	0	T	61981707	C	T	61981707	2	4	88	1	0	0	0	0	0	0	0	1	3408	697	25	2		2	CHRNA4	20	61981707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	403	61981707	1043813	19653	27365											
CHRNA4	1137	broad.mit.edu	37	chr20	61981955	61981955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgatcttctcgccacactCggagggcaggtagaagacca	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981955C>T	ENST00000370263.4	-	5	1029	c.808G>A	c.(808-810)Gag>Aag	p.E270K	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	270					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCGCCACACTCGGAGGGCAGG	0.597													False	0	False	20:61981955	0	T	61981955	C	T	61981955	3	4	88	1	0	0	0	0	1	0	0	0	3408	893	31	1	1083	1	CHRNA4	20	61981955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248	61981955	1043565	19654	27366											
KCNQ2	3785	broad.mit.edu	37	chr20	62046315	62046315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcctggcgtgcccggctgCggtccccgaagctccagctc	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62046315C>T	ENST00000354587.3	-	11	1558	c.1382G>A	c.(1381-1383)cGc>cAc	p.R461H	KCNQ2_ENST00000359689.1_Missense_Mutation_p.R489H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R461H|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000359125.2_Missense_Mutation_p.R489H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R471H|KCNQ2_ENST00000344462.4_Missense_Mutation_p.R459H			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	489					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TGCCCGGCTGCGGTCCCCGAA	0.692													False	0	False	20:62046315	0	T	62046315	C	T	62046315	3	4	88	1	0	0	0	0	1	0	0	0	8133	768	27	1	1172	1	KCNQ2	20	62046315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64360	62046315	979205	19655	27367											
KCNQ2	3785	broad.mit.edu	37	chr20	62065214	62065214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtactgccacgtggagtgcaGgtctgtgcgcgagaggttgg	18	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62065214G>T	ENST00000354587.3	-	8	1242	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	KCNQ2_ENST00000344425.5_Missense_Mutation_p.L356M|KCNQ2_ENST00000359689.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000370224.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000360480.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000359125.2_Missense_Mutation_p.L356M|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000357249.2_Missense_Mutation_p.L356M|KCNQ2_ENST00000344462.4_Missense_Mutation_p.L356M			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	356					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTGGAGTGCAGGTCTGTGCGC	0.627													False	0	False	20:62065214	0	T	62065214	G	T	62065214	3	4	88	1	0	0	0	0	1	0	0	0	8133	991	35	3	1656	3	KCNQ2	20	62065214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18899	62065214	960306	19656	27368											
KCNQ2	3785	broad.mit.edu	37	chr20	62070950	62070950	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggggcagctggacttaCtgcaggcagcgcgaagaagg	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62070950C>T	ENST00000354587.3	-	6	1104		c.e6+1		KCNQ2_ENST00000344425.5_Splice_Site|KCNQ2_ENST00000359689.1_Splice_Site|KCNQ2_ENST00000370224.1_Splice_Site|KCNQ2_ENST00000360480.3_Splice_Site|KCNQ2_ENST00000359125.2_Splice_Site|KCNQ2_ENST00000357249.2_Splice_Site|KCNQ2_ENST00000344462.4_Splice_Site			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2						axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCTGGACTTACTGCAGGCAGC	0.642													False	0	False	20:62070950	0	T	62070950	C	T	62070950	5	4	88	1	0	0	0	0	0	0	1	0	8133	579	20	2	1802	2	KCNQ2	20	62070950	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5736	62070950	954570	19657	27369											
KCNQ2	3785	broad.mit.edu	37	chr20	62070995	62070995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgatgagggtgaaggttgCcgcaaggagcctgccgttcc	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62070995C>T	ENST00000354587.3	-	6	1059	c.883G>A	c.(883-885)Gca>Aca	p.A295T	KCNQ2_ENST00000344425.5_Missense_Mutation_p.A295T|KCNQ2_ENST00000359689.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000370224.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000360480.3_Missense_Mutation_p.A295T|KCNQ2_ENST00000359125.2_Missense_Mutation_p.A295T|KCNQ2_ENST00000357249.2_Missense_Mutation_p.A295T|KCNQ2_ENST00000344462.4_Missense_Mutation_p.A295T			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	295					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTGAAGGTTGCCGCAAGGAGC	0.632													False	0	False	20:62070995	0	T	62070995	C	T	62070995	3	4	88	1	0	0	0	0	1	0	0	0	8133	739	26	2	1847	2	KCNQ2	20	62070995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	62070995	954525	19658	27370											
PTK6	5753	broad.mit.edu	37	chr20	62164956	62164956	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtctttccagagcccctcGaagacctccccaaagtagcc	8	17	1	2	rs61736391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62164956G>A	ENST00000217185.2	-	4	645	c.618C>T	c.(616-618)ttC>ttT	p.F206F	PTK6_ENST00000542869.1_Silent_p.F105F	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	206	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			AGAGCCCCTCGAAGACCTCCC	0.647													False	0	False	20:62164956	0	A	62164956	G	A	62164956	2	1	88	1	0	0	0	0	0	0	0	1	12841	1049	37	1		1	PTK6	20	62164956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93961	62164956	860564	19659	27371											
PTK6	5753	broad.mit.edu	37	chr20	62166298	62166298	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccggggccgcacccgacagGacgtagtcggcactcggctt	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62166298G>A	ENST00000217185.2	-	2	372	c.345C>T	c.(343-345)gtC>gtT	p.V115V	PTK6_ENST00000542869.1_Intron	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	115	SH2.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CACCCGACAGGACGTAGTCGG	0.706													False	0	False	20:62166298	0	A	62166298	G	A	62166298	2	1	88	1	0	0	0	0	0	0	0	1	12841	1161	41	2		2	PTK6	20	62166298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1342	62166298	859222	19660	27372											
SRMS	6725	broad.mit.edu	37	chr20	62172627	62172627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacttctgggagaagacaCgataattggccgcctcaggc	12	11	2	3	rs139360881	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62172627C>T	ENST00000217188.1	-	7	1242	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	401	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGAGAAGACACGATAATTGGC	0.617													False	0	False	20:62172627	0	T	62172627	C	T	62172627	3	4	88	1	0	0	0	0	1	0	0	0	15234	536	19	1	272	1	SRMS	20	62172627	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6329	62172627	852893	19661	27373											
SRMS	6725	broad.mit.edu	37	chr20	62178461	62178461	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgaggccgaggtactcacGgttggtctgagagcgtctca	14	11	3	1	rs143524113	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178461G>A	ENST00000217188.1	-	1	396	c.356C>T	c.(355-357)cCc>cTc	p.P119L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	119							ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGGTACTCACGGTTGGTCTGA	0.632													False	0	False	20:62178461	0	A	62178461	G	A	62178461	5	1	88	1	0	0	0	0	0	0	1	0	15234	1130	39	1	1142	1	SRMS	20	62178461	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5834	62178461	847059	19662	27374											
SRMS	6725	broad.mit.edu	37	chr20	62178549	62178549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccgaaagcctgcgtgCgaagatgtagccgcccccct	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178549C>T	ENST00000217188.1	-	1	308	c.268G>A	c.(268-270)Gca>Aca	p.A90T		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	90	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGCCTGCGTGCGAAGATGTAG	0.677													False	0	True	20:62178549	0	T	62178549	C	T	62178549	3	4	88	1	0	0	0	0	1	0	0	0	15234	768	27	1	1230	1	SRMS	20	62178549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	62178549	846971	19663	27375											
SRMS	6725	broad.mit.edu	37	chr20	62178609	62178609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccccgcggcggacactcaGctccccgccacaccgcgccg	11	22	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178609G>T	ENST00000217188.1	-	1	248	c.208C>A	c.(208-210)Ctg>Atg	p.L70M		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	70	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGGACACTCAGCTCCCCGCCA	0.697													False	0	False	20:62178609	0	T	62178609	G	T	62178609	3	4	88	1	0	0	0	0	1	0	0	0	15234	962	34	3	1290	3	SRMS	20	62178609	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	62178609	846911	19664	27376											
C20orf195	79025	broad.mit.edu	37	chr20	62187575	62187575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggctacacgtcaagcacCgcctggtgtctgatgtcagt	13	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62187575C>T	ENST00000370098.3	+	2	651	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	C20orf195_ENST00000370097.1_Missense_Mutation_p.R187C	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	187										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGTCAAGCACCGCCTGGTGTC	0.647													False	0	False	20:62187575	0	T	62187575	C	T	62187575	3	4	88	1	0	0	0	0	1	0	0	0	2116	652	23	1	561	1	C20orf195	20	62187575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8966	62187575	837945	19665	27377											
C20orf195	79025	broad.mit.edu	37	chr20	62187886	62187886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagggccgagacctccacGctggtgtacgagccctggag	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62187886G>A	ENST00000370098.3	+	2	962	c.870G>A	c.(868-870)acG>acA	p.T290T	C20orf195_ENST00000370097.1_Silent_p.T290T	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	290										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGACCTCCACGCTGGTGTACG	0.622													False	0	False	20:62187886	0	A	62187886	G	A	62187886	2	1	88	1	0	0	0	0	0	0	0	1	2116	1074	38	1		1	C20orf195	20	62187886	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311	62187886	837634	19666	27378											
RTEL1	51750	broad.mit.edu	37	chr20	62321794	62321794	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaagcagaggtcctcaGgtgcggacgggcagcgctgg	18	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62321794G>A	ENST00000318100.4	+	26	3240	c.2413G>A	c.(2413-2415)Ggg>Agg	p.G805R	RTEL1_ENST00000370018.3_Splice_Site_p.G805R|RTEL1_ENST00000508582.2_Splice_Site_p.G829R|RTEL1_ENST00000360203.5_Splice_Site_p.G805R|RTEL1_ENST00000370003.1_Splice_Site_p.G50R|RTEL1-TNFRSF6B_ENST00000482936.1_Splice_Site_p.G805R	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	805					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GAGGTCCTCAGGTGCGGACGG	0.701													False	0	False	20:62321794	0	A	62321794	G	A	62321794	5	1	88	1	0	0	0	0	0	0	1	0	13799	1014	35	2	2511	2	RTEL1	20	62321794	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133908	62321794	703726	19667	27379											
SLC2A4RG	56731	broad.mit.edu	37	chr20	62372827	62372827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccggttgcagccttcaGcccaggtaagactcagatgt	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62372827G>A	ENST00000266077.2	+	3	438	c.386G>A	c.(385-387)aGc>aAc	p.S129N	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	129						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCAGCCTTCAGCCCAGGTAAG	0.627													False	0	True	20:62372827	0	A	62372827	G	A	62372827	3	1	88	1	0	0	0	0	1	0	0	0	14627	971	34	2	396	2	SLC2A4RG	20	62372827	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51033	62372827	652693	19668	27380											
ZBTB46	140685	broad.mit.edu	37	chr20	62407098	62407098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcatcccccagcacgtcGgccttcagcgacagcaggct	10	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62407098G>A	ENST00000245663.4	-	3	1305	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	ZBTB46_ENST00000395104.1_Silent_p.A385A|ZBTB46_ENST00000302995.2_Silent_p.A385A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.A385A(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCAGCACGTCGGCCTTCAGCG	0.677											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	20:62407098	0	A	62407098	G	A	62407098	2	1	88	1	0	0	0	0	0	0	0	1	17630	1103	39	1		1	ZBTB46	20	62407098	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34271	62407098	618422	19669	27381											
ZBTB46	140685	broad.mit.edu	37	chr20	62421293	62421293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggtctctttgtttttcCgattcttccttcggcccgtg	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62421293C>T	ENST00000245663.4	-	2	968	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	ZBTB46_ENST00000395104.1_Missense_Mutation_p.R273Q|ZBTB46_ENST00000302995.2_Missense_Mutation_p.R273Q	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TTTGTTTTTCCGATTCTTCCT	0.627													False	0	False	20:62421293	0	T	62421293	C	T	62421293	3	4	88	1	0	0	0	0	1	0	0	0	17630	652	23	1	967	1	ZBTB46	20	62421293	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14195	62421293	604227	19670	27382											
TPD52L2	7165	broad.mit.edu	37	chr20	62514152	62514152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtgggctctgccatcaGcaggaagcttggagacatga	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62514152G>A	ENST00000217121.5	+	5	527	c.455G>A	c.(454-456)aGc>aAc	p.S152N	TPD52L2_ENST00000369927.4_Missense_Mutation_p.S109N|TPD52L2_ENST00000352482.4_Missense_Mutation_p.S152N|TPD52L2_ENST00000358548.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000351424.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000348257.5_Missense_Mutation_p.S132N|TPD52L2_ENST00000346249.4_Missense_Mutation_p.S152N	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	152					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TCTGCCATCAGCAGGAAGCTT	0.552													False	0	False	20:62514152	0	A	62514152	G	A	62514152	3	1	88	1	0	0	0	0	1	0	0	0	16482	971	34	2	473	2	TPD52L2	20	62514152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92859	62514152	511368	19671	27383											
DNAJC5	80331	broad.mit.edu	37	chr20	62560750	62560750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagatcaacaacgcgcacGccatcctcacggacgccaca	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62560750G>A	ENST00000360864.4	+	3	346	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	DNAJC5_ENST00000369911.2_Missense_Mutation_p.A65T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	65	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAACGCGCACGCCATCCTCAC	0.547													False	0	False	20:62560750	0	A	62560750	G	A	62560750	3	1	88	1	0	0	0	0	1	0	0	0	4680	1087	38	1	199	1	DNAJC5	20	62560750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46598	62560750	464770	19672	27384											
DNAJC5	80331	broad.mit.edu	37	chr20	62560765	62560765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacgccatcctcacggacGccacaaaaaggaacatctac	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62560765G>A	ENST00000360864.4	+	3	361	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DNAJC5_ENST00000369911.2_Missense_Mutation_p.A70T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	70	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTCACGGACGCCACAAAAAG	0.557													False	0	False	20:62560765	0	A	62560765	G	A	62560765	3	1	88	1	0	0	0	0	1	0	0	0	4680	1087	38	1	214	1	DNAJC5	20	62560765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	62560765	464755	19673	27385											
ZNF512B	57473	broad.mit.edu	37	chr20	62592748	62592748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacagcggtacttccctgCcaggtgggccccctgcaatg	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62592748C>T	ENST00000450537.1	-	16	2401	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	ZNF512B_ENST00000217130.3_Missense_Mutation_p.A781T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.A781T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	781					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TACTTCCCTGCCAGGTGGGCC	0.592													False	0	False	20:62592748	0	T	62592748	C	T	62592748	3	4	88	1	0	0	0	0	1	0	0	0	18040	739	26	2	345	2	ZNF512B	20	62592748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31983	62592748	432772	19674	27386											
ZNF512B	57473	broad.mit.edu	37	chr20	62594982	62594982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacggtaccttggcactgtGctcggccatagtgtggtagt	14	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62594982G>A	ENST00000450537.1	-	10	1747	c.1687C>T	c.(1687-1689)Cac>Tac	p.H563Y	ZNF512B_ENST00000217130.3_Missense_Mutation_p.H563Y|ZNF512B_ENST00000369888.1_Missense_Mutation_p.H563Y			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGCACTGTGCTCGGCCATA	0.622													False	0	False	20:62594982	0	A	62594982	G	A	62594982	3	1	88	1	0	0	0	0	1	0	0	0	18040	1319	46	2	1023	2	ZNF512B	20	62594982	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2234	62594982	430538	19675	27387											
ZNF512B	57473	broad.mit.edu	37	chr20	62595140	62595140	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgccttccgggagctgccttAccttctgacacacctccatg	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62595140A>T	ENST00000450537.1	-	9	1666		c.e9+1		ZNF512B_ENST00000217130.3_Splice_Site|ZNF512B_ENST00000369888.1_Splice_Site			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGCTGCCTTACCTTCTGACA	0.637													False	0	False	20:62595140	0	T	62595140	A	T	62595140	5	4	88	1	0	0	0	0	0	0	1	0	18040	405	14	5	1107	5	ZNF512B	20	62595140	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	158	62595140	430380	19676	27388											
ZNF512B	57473	broad.mit.edu	37	chr20	62597563	62597563	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggtcagcagcaccattTtgcagggcggtgtgtgtctg	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62597563T>G	ENST00000450537.1	-	5	1025	c.965A>C	c.(964-966)aAa>aCa	p.K322T	ZNF512B_ENST00000217130.3_Missense_Mutation_p.K322T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K322T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAGCACCATTTTGCAGGGCGG	0.592													False	0	True	20:62597563	0	G	62597563	T	G	62597563	3	3	88	1	0	0	0	0	1	0	0	0	18040	1841	64	4	1765	4	ZNF512B	20	62597563	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2423	62597563	427957	19677	27389											
ZNF512B	57473	broad.mit.edu	37	chr20	62598231	62598231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgacccacagtcccttacccCttggcaccgctggtaatggt	9	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62598231C>A	ENST00000450537.1	-	4	451	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	ZNF512B_ENST00000217130.3_Missense_Mutation_p.G131W|ZNF512B_ENST00000369888.1_Missense_Mutation_p.G131W			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCCCTTACCCCTTGGCACCGC	0.622													False	0	True	20:62598231	0	A	62598231	C	A	62598231	3	1	88	1	0	0	0	0	1	0	0	0	18040	681	24	3	2343	3	ZNF512B	20	62598231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	668	62598231	427289	19678	27390											
TCEA2	6919	broad.mit.edu	37	chr20	62701711	62701711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaaccctgacctgcggCggaatgtgctgtgtggggcc	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62701711C>T	ENST00000361317.2	+	8	977	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Missense_Mutation_p.R206W	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	206	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGACCTGCGGCGGAATGTGCT	0.582													False	0	False	20:62701711	0	T	62701711	C	T	62701711	3	4	88	1	0	0	0	0	1	0	0	0	15750	759	27	1	642	1	TCEA2	20	62701711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103480	62701711	323809	19679	27391											
RGS19	10287	broad.mit.edu	37	chr20	62705215	62705215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggcggcctaggcctcGgaggaggactgtgatggccc	19	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62705215G>A	ENST00000395042.1	-	6	911	c.645C>T	c.(643-645)tcC>tcT	p.S215S	RGS19_ENST00000332298.5_Silent_p.S215S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	215	Interaction with GIPC.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCTAGGCCTCGGAGGAGGACT	0.662													False	0	True	20:62705215	0	A	62705215	G	A	62705215	2	1	88	1	0	0	0	0	0	0	0	1	13380	1103	39	1		1	RGS19	20	62705215	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3504	62705215	320305	19680	27392											
RGS19	10287	broad.mit.edu	37	chr20	62705620	62705620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagagcatgttctcctcGctgtactctgtccgcaggaa	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62705620G>A	ENST00000395042.1	-	5	605	c.339C>T	c.(337-339)agC>agT	p.S113S	RGS19_ENST00000332298.5_Silent_p.S113S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	113	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTTCTCCTCGCTGTACTCTG	0.612													False	0	False	20:62705620	0	A	62705620	G	A	62705620	2	1	88	1	0	0	0	0	0	0	0	1	13380	1078	38	1		1	RGS19	20	62705620	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	405	62705620	319900	19681	27393											
OPRL1	4987	broad.mit.edu	37	chr20	62729775	62729775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggcggctccgtggagtcCgcctgctctcgggctcccga	14	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62729775C>T	ENST00000349451.3	+	6	1148	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	OPRL1_ENST00000355631.4_Missense_Mutation_p.R246C|OPRL1_ENST00000336866.2_Missense_Mutation_p.R246C	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	246					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CCGTGGAGTCCGCCTGCTCTC	0.632													False	0	False	20:62729775	0	T	62729775	C	T	62729775	3	4	88	1	0	0	0	0	1	0	0	0	10954	652	23	1	746	1	OPRL1	20	62729775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24155	62729775	295745	19682	27394											
OPRL1	4987	broad.mit.edu	37	chr20	62729818	62729818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaccggaacctgcggcGcatcactcggctggtgctgg	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62729818G>A	ENST00000349451.3	+	6	1191	c.779G>A	c.(778-780)cGc>cAc	p.R260H	OPRL1_ENST00000355631.4_Missense_Mutation_p.R260H|OPRL1_ENST00000336866.2_Missense_Mutation_p.R260H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	260					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AACCTGCGGCGCATCACTCGG	0.667													False	0	False	20:62729818	0	A	62729818	G	A	62729818	3	1	88	1	0	0	0	0	1	0	0	0	10954	1087	38	1	789	1	OPRL1	20	62729818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43	62729818	295702	19683	27395											
MYT1	4661	broad.mit.edu	37	chr20	62837056	62837056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgaggacactgaggtgaaGgacgcctctgtttcggatga	15	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62837056G>T	ENST00000536311.1	+	6	664	c.300G>T	c.(298-300)aaG>aaT	p.K100N	MYT1_ENST00000360149.4_Missense_Mutation_p.K100N|MYT1_ENST00000328439.1_Missense_Mutation_p.K100N			Q01538	MYT1_HUMAN	myelin transcription factor 1	100					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTGAGGTGAAGGACGCCTCTG	0.602													False	0	False	20:62837056	0	T	62837056	G	T	62837056	3	4	88	1	0	0	0	0	1	0	0	0	10173	991	35	3	314	3	MYT1	20	62837056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107238	62837056	188464	19684	27396											
MYT1	4661	broad.mit.edu	37	chr20	62838959	62838959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcaggaaggagccccgTcaagtcccattttggatcca	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62838959T>C	ENST00000536311.1	+	7	774	c.410T>C	c.(409-411)gTc>gCc	p.V137A	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.V137A			Q01538	MYT1_HUMAN	myelin transcription factor 1	137					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGAGCCCCGTCAAGTCCCAT	0.582													False	0	False	20:62838959	0	C	62838959	T	C	62838959	3	2	88	1	0	0	0	0	1	0	0	0	10173	1667	58	4	428	4	MYT1	20	62838959	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1903	62838959	186561	19685	27397											
MYT1	4661	broad.mit.edu	37	chr20	62839080	62839080	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgggtcaaattgctgaagaGaccctggtggaagaggactt	14	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62839080G>T	ENST00000536311.1	+	7	895	c.531G>T	c.(529-531)gaG>gaT	p.E177D	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.E177D			Q01538	MYT1_HUMAN	myelin transcription factor 1	177					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTGCTGAAGAGACCCTGGTGG	0.612													False	0	False	20:62839080	0	T	62839080	G	T	62839080	3	4	88	1	0	0	0	0	1	0	0	0	10173	933	33	3	549	3	MYT1	20	62839080	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121	62839080	186440	19686	27398											
MYT1	4661	broad.mit.edu	37	chr20	62839313	62839313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagcagaaaggcatccTgagtcacgaagaggaggacg	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62839313T>C	ENST00000536311.1	+	7	1128	c.764T>C	c.(763-765)cTg>cCg	p.L255P	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.L255P			Q01538	MYT1_HUMAN	myelin transcription factor 1	255	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAAGGCATCCTGAGTCACgaa	0.597													False	0	False	20:62839313	0	C	62839313	T	C	62839313	3	2	88	1	0	0	0	0	1	0	0	0	10173	1580	55	4	782	4	MYT1	20	62839313	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	233	62839313	186207	19687	27399											
MYT1	4661	broad.mit.edu	37	chr20	62843485	62843485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcaaccgcaacacgcAcagaaggtacttggactgag	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62843485A>G	ENST00000536311.1	+	9	1875	c.1511A>G	c.(1510-1512)cAc>cGc	p.H504R	MYT1_ENST00000360149.4_Missense_Mutation_p.H206R|MYT1_ENST00000328439.1_Missense_Mutation_p.H504R			Q01538	MYT1_HUMAN	myelin transcription factor 1	504					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGCAACACGCACAGAAGGTAC	0.667													False	0	False	20:62843485	0	G	62843485	A	G	62843485	3	3	88	1	0	0	0	0	1	0	0	0	10173	159	6	4	1537	4	MYT1	20	62843485	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4172	62843485	182035	19688	27400											
MYT1	4661	broad.mit.edu	37	chr20	62848447	62848447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcgtgaagcagctcgaGgtccctccatatgggagcta	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62848447G>A	ENST00000536311.1	+	11	2023	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	MYT1_ENST00000360149.4_Silent_p.E255E|MYT1_ENST00000328439.1_Silent_p.E553E			Q01538	MYT1_HUMAN	myelin transcription factor 1	553					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCAGCTCGAGGTCCCTCCAT	0.632													False	0	False	20:62848447	0	A	62848447	G	A	62848447	2	1	88	1	0	0	0	0	0	0	0	1	10173	991	35	2		2	MYT1	20	62848447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4962	62848447	177073	19689	27401											
MYT1	4661	broad.mit.edu	37	chr20	62850260	62850260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcacttcatcctcttctGcaggctttgactactcgcag	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62850260G>A	ENST00000536311.1	+	12	2288	c.1924G>A	c.(1924-1926)Gca>Aca	p.A642T	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	616					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ATCCTCTTCTGCAGGCTTTGA	0.577													False	0	False	20:62850260	0	A	62850260	G	A	62850260	3	1	88	1	0	0	0	0	1	0	0	0	10173	1334	46	2		2	MYT1	20	62850260	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1813	62850260	175260	19690	27402											
MYT1	4661	broad.mit.edu	37	chr20	62859375	62859375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattgcggaattgagattttCgtgtgttttataatgtaaaa	9	3	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62859375C>T	ENST00000360149.4	+	16	1981	c.1763C>T	c.(1762-1764)tCg>tTg	p.S588L	MYT1_ENST00000536311.1_Intron|MYT1_ENST00000328439.1_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	0					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTGAGATTTTCGTGTGTTTTA	0.438													False	0	True	20:62859375	0	T	62859375	C	T	62859375	3	4	88	1	0	0	0	0	1	0	0	0	10173	899	31	1		1	MYT1	20	62859375	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9115	62859375	166145	19691	27403											
MYT1	4661	broad.mit.edu	37	chr20	62863731	62863731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatgggagtttcctcaccCaccggaggtaactgtgcctg	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62863731C>T	ENST00000536311.1	+	19	3335	c.2971C>T	c.(2971-2973)Cac>Tac	p.H991Y	MYT1_ENST00000328439.1_Missense_Mutation_p.H964Y			Q01538	MYT1_HUMAN	myelin transcription factor 1	964					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTTCCTCACCCACCGGAGGTA	0.647													False	0	True	20:62863731	0	T	62863731	C	T	62863731	3	4	88	1	0	0	0	0	1	0	0	0	10173	594	21	2	2956	2	MYT1	20	62863731	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4356	62863731	161789	19692	27404											
MYT1	4661	broad.mit.edu	37	chr20	62868708	62868708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgaacgagtccaactcgGagatggaggctgccatggtg	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62868708G>A	ENST00000536311.1	+	21	3503	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K	MYT1_ENST00000328439.1_Missense_Mutation_p.E1020K			Q01538	MYT1_HUMAN	myelin transcription factor 1	1020					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GTCCAACTCGGAGATGGAGGC	0.577													False	0	False	20:62868708	0	A	62868708	G	A	62868708	3	1	88	1	0	0	0	0	1	0	0	0	10173	1175	41	2	3132	2	MYT1	20	62868708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4977	62868708	156812	19693	27405											
MYT1	4661	broad.mit.edu	37	chr20	62871223	62871223	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctgagccaggccctcatCcaaagtctcgccaatatccg	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62871223C>T	ENST00000536311.1	+	22	3649	c.3285C>T	c.(3283-3285)atC>atT	p.I1095I	MYT1_ENST00000328439.1_Silent_p.I1068I			Q01538	MYT1_HUMAN	myelin transcription factor 1	1068					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGCCCTCATCCAAAGTCTCG	0.597													False	0	False	20:62871223	0	T	62871223	C	T	62871223	2	4	88	1	0	0	0	0	0	0	0	1	10173	845	30	2		2	MYT1	20	62871223	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2515	62871223	154297	19694	27406											
PCMTD2	55251	broad.mit.edu	37	chr20	62895791	62895791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccttttaggtccttttgGtgtgaaccatggggtggaac	12	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62895791G>A	ENST00000308824.6	+	3	444	c.317G>A	c.(316-318)gGt>gAt	p.G106D	PCMTD2_ENST00000369758.4_Missense_Mutation_p.G106D|PCMTD2_ENST00000299468.7_Missense_Mutation_p.G106D|PCMTD2_ENST00000609372.1_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	106						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGTCCTTTTGGTGTGAACCAT	0.388													False	0	False	20:62895791	0	A	62895791	G	A	62895791	3	1	88	1	0	0	0	0	1	0	0	0	11655	1261	44	2	323	2	PCMTD2	20	62895791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24568	62895791	129729	19695	27407											
PCMTD2	55251	broad.mit.edu	37	chr20	62899295	62899295	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaccaaaaagattcttgCtgtttcttttgctcctctga	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62899295C>A	ENST00000308824.6	+	5	765	c.638C>A	c.(637-639)gCt>gAt	p.A213D	PCMTD2_ENST00000369758.4_Intron|PCMTD2_ENST00000299468.7_Missense_Mutation_p.A213D|PCMTD2_ENST00000609372.1_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	213						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGATTCTTGCTGTTTCTTTT	0.383													False	0	False	20:62899295	0	A	62899295	C	A	62899295	3	1	88	1	0	0	0	0	1	0	0	0	11655	797	28	3	652	3	PCMTD2	20	62899295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3504	62899295	126225	19696	27408											
TPTE	7179	broad.mit.edu	37	chr21	10914364	10914364	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcacatgttttctcttaccGaacattttcctaatgaaata	3	9	2	1	rs147105244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10914364G>A	ENST00000298232.7	-	20	1668	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S414L|TPTE_ENST00000361285.4_Splice_Site_p.S452L	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	452	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S434L(1)|p.S452L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTCTTACCGAACATTTTCC	0.323													False	0	False	21:10914364	0	A	10914364	G	A	10914364	5	1	88	1	0	0	0	0	0	0	1	0	16513	1072	37	1	316	1	TPTE	21	10914364	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08		10914364	37215531	19697	27409											
TPTE	7179	broad.mit.edu	37	chr21	10973777	10973777	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataattcatttgtgggtggaCtagaggatgtcaaaagaata	11	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10973777C>A	ENST00000298232.7	-	4	325		c.e4-1		TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000361285.4_Splice_Site	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTGGGTGGACTAGAGGATGT	0.363													False	0	False	21:10973777	0	A	10973777	C	A	10973777	5	1	88	1	0	0	0	0	0	0	1	0	16513	579	20	3		3	TPTE	21	10973777	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59413	10973777	37156118	19698	27410											
BAGE2	85319	broad.mit.edu	37	chr21	11039050	11039050	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaggagtcatttcagagtcCatcaatccagtagaaagttc	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11039050C>A	ENST00000470054.1	-	0	1153									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTCAGAGTCCATCAATCCAG	0.378													False	0	False	21:11039050	0	A	11039050	C	A	11039050	1	1	88	0	1	0	0	0	0	0	0	0	1296	609	21	3		3	BAGE2	21	11039050	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65273	11039050	37090845	19699	27411											
BAGE2	85319	broad.mit.edu	37	chr21	11039076	11039076	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccagtagaaagttcagaatCttctttctgttccttttctc	5	10	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11039076C>A	ENST00000470054.1	-	0	1127									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGTTCAGAATCTTCTTTCTGT	0.393													False	0	True	21:11039076	0	A	11039076	C	A	11039076	1	1	88	0	1	0	0	0	0	0	0	0	1296	928	32	3		3	BAGE2	21	11039076	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26	11039076	37090819	19700	27412											
BAGE2	85319	broad.mit.edu	37	chr21	11039272	11039272	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaactgcagttgctcttgCtgcacagtgatctggtgtgt	11	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11039272C>T	ENST00000470054.1	-	0	931									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTGCTCTTGCTGCACAGTGA	0.398													False	0	False	21:11039272	0	T	11039272	C	T	11039272	1	4	88	0	1	0	0	0	0	0	0	0	1296	812	28	2		2	BAGE2	21	11039272	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196	11039272	37090623	19701	27413											
BAGE2	85319	broad.mit.edu	37	chr21	11049580	11049580	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagaactgatctaagaggtCtcccgggctgtcgcacactg	11	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11049580C>A	ENST00000470054.1	-	0	528									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTAAGAGGTCTCCCGGGCTG	0.398													False	0	False	21:11049580	0	A	11049580	C	A	11049580	1	1	88	0	1	0	0	0	0	0	0	0	1296	912	32	3		3	BAGE2	21	11049580	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10308	11049580	37080315	19702	27414											
BAGE2	85319	broad.mit.edu	37	chr21	11098737	11098737	+	RNA	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttactgctccggccgccaTcttactgctccagccccact	6	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11098737T>A	ENST00000470054.1	-	0	188									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccggccgccatcttactgctc	0.637													False	0	False	21:11098737	0	A	11098737	T	A	11098737	1	1	88	0	1	0	0	0	0	0	0	0	1296	1435	50	5		5	BAGE2	21	11098737	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49157	11098737	37031158	19703	27415											
RBM11	54033	broad.mit.edu	37	chr21	15592002	15592002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgccatagctttgctgaatgGaattcgtttatatggaagac	10	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15592002G>T	ENST00000400577.3	+	2	224	c.215G>T	c.(214-216)gGa>gTa	p.G72V	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	72	RRM.						nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TTGCTGAATGGAATTCGTTTA	0.393													False	0	False	21:15592002	0	T	15592002	G	T	15592002	3	4	88	1	0	0	0	0	1	0	0	0	13191	1174	41	3	221	3	RBM11	21	15592002	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4493265	15592002	32537893	19704	27416											
HSPA13	6782	broad.mit.edu	37	chr21	15747996	15747996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acattgctcgggttagaaacAtccctccttgtttattcagt	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15747996A>G	ENST00000285667.3	-	4	792	c.725T>C	c.(724-726)aTg>aCg	p.M242T	HSPA13_ENST00000544452.1_Missense_Mutation_p.M34T	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	242						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGTTAGAAACATCCCTCCTTG	0.532													False	0	False	21:15747996	0	G	15747996	A	G	15747996	3	3	88	1	0	0	0	0	1	0	0	0	7455	217	8	4	698	4	HSPA13	21	15747996	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155994	15747996	32381899	19705	27417											
HSPA13	6782	broad.mit.edu	37	chr21	15753528	15753528	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagattaatcacttaccttaAatgggtatctgccaatttca	5	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15753528A>C	ENST00000285667.3	-	2	429	c.362T>G	c.(361-363)tTt>tGt	p.F121C	HSPA13_ENST00000544452.1_De_novo_Start_InFrame|HSPA13_ENST00000478035.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	121						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACTTACCTTAAATGGGTATCT	0.328													False	0	True	21:15753528	0	C	15753528	A	C	15753528	3	2	88	1	0	0	0	0	1	0	0	0	7455	14	1	4	1069	4	HSPA13	21	15753528	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5532	15753528	32376367	19706	27418											
NRIP1	8204	broad.mit.edu	37	chr21	16339699	16339699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctgcaaatgggcttcgCttgacagaagtaatgctaac	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:16339699C>T	ENST00000400202.1	-	3	1527	c.815G>A	c.(814-816)aGc>aAc	p.S272N	NRIP1_ENST00000318948.4_Missense_Mutation_p.S272N|NRIP1_ENST00000400199.1_Missense_Mutation_p.S272N			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	272	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATGGGCTTCGCTTGACAGAAG	0.453													False	0	False	21:16339699	0	T	16339699	C	T	16339699	3	4	88	1	0	0	0	0	1	0	0	0	10720	797	28	2	2665	2	NRIP1	21	16339699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	586171	16339699	31790196	19707	27419											
USP25	29761	broad.mit.edu	37	chr21	17181149	17181149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtgagtgagtttacaCacaaattattagattggtta	9	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17181149C>T	ENST00000285681.2	+	8	1171	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	USP25_ENST00000547201.1_3'UTR|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.H268Y|USP25_ENST00000285679.6_Missense_Mutation_p.H268Y	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	268					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGAGTTTACACACAAATTATT	0.348													False	0	True	21:17181149	0	T	17181149	C	T	17181149	3	4	88	1	0	0	0	0	1	0	0	0	17140	478	17	2	832	2	USP25	21	17181149	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	841450	17181149	30948746	19708	27420											
USP25	29761	broad.mit.edu	37	chr21	17181187	17181187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttagaagatgccttccaaatGaaagctgaagaggagacgta	11	6	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17181187G>A	ENST00000285681.2	+	8	1209	c.840G>A	c.(838-840)atG>atA	p.M280I	USP25_ENST00000547201.1_3'UTR|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.M280I|USP25_ENST00000285679.6_Missense_Mutation_p.M280I	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	280					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CCTTCCAAATGAAAGCTGAAG	0.343													False	0	True	21:17181187	0	A	17181187	G	A	17181187	3	1	88	1	0	0	0	0	1	0	0	0	17140	1290	45	2	870	2	USP25	21	17181187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	17181187	30948708	19709	27421											
BTG3	10950	broad.mit.edu	37	chr21	18981409	18981409	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttttcaacttatcatgTtttcgaactagccttgtgaa	5	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:18981409T>C	ENST00000339775.6	-	2	207	c.54A>G	c.(52-54)aaA>aaG	p.K18K	BTG3_ENST00000464058.1_5'UTR|BTG3_ENST00000348354.6_Silent_p.K18K	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	18					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		ACTTATCATGTTTTCGAACTA	0.323													False	0	True	21:18981409	0	C	18981409	T	C	18981409	2	2	88	1	0	0	0	0	0	0	0	1	1562	1722	60	4		4	BTG3	21	18981409	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1800222	18981409	29148486	19710	27422											
C21orf91	54149	broad.mit.edu	37	chr21	19169392	19169392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaaagcagtctttatgGccccttaatgatttggtgtg	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19169392G>A	ENST00000284881.4	-	3	261	c.171C>T	c.(169-171)ggC>ggT	p.G57G	C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Silent_p.G57G|C21orf91_ENST00000400558.3_Silent_p.G57G|AL109761.5_ENST00000428689.1_RNA	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	57										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGTCTTTATGGCCCCTTAATG	0.338													False	0	True	21:19169392	0	A	19169392	G	A	19169392	2	1	88	1	0	0	0	0	0	0	0	1	2150	1190	42	2		2	C21orf91	21	19169392	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187983	19169392	28960503	19711	27423											
TMPRSS15	5651	broad.mit.edu	37	chr21	19642312	19642312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagaaaactttgtatccattCggtaaaccttgagaccctgg	8	9	0	2	rs146494364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19642312C>T	ENST00000284885.3	-	25	3067	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	1012	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGTATCCATTCGGTAAACCTT	0.423													False	0	False	21:19642312	0	T	19642312	C	T	19642312	3	4	88	1	0	0	0	0	1	0	0	0	16328	893	31	1	29	1	TMPRSS15	21	19642312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	472920	19642312	28487583	19712	27424											
TMPRSS15	5651	broad.mit.edu	37	chr21	19642342	19642342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaccctggcatacactcCggggcgattaggcagggcac	14	12	0	1	rs144640412	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19642342C>T	ENST00000284885.3	-	25	3037	c.3004G>A	c.(3004-3006)Gga>Aga	p.G1002R		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	1002	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCATACACTCCGGGGCGATTA	0.453													False	0	True	21:19642342	0	T	19642342	C	T	19642342	3	4	88	1	0	0	0	0	1	0	0	0	16328	661	23	1	59	1	TMPRSS15	21	19642342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	19642342	28487553	19713	27425											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666603	19666603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccatacacgcagtgtgCggcggacaccagccagtcac	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19666603C>T	ENST00000284885.3	-	21	2503	c.2470G>A	c.(2470-2472)Gca>Aca	p.A824T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	824	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACGCAGTGTGCGGCGGACACC	0.582													False	0	False	21:19666603	0	T	19666603	C	T	19666603	3	4	88	1	0	0	0	0	1	0	0	0	16328	768	27	1	609	1	TMPRSS15	21	19666603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24261	19666603	28463292	19714	27426											
TMPRSS15	5651	broad.mit.edu	37	chr21	19755999	19755999	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccagttggctggatttAtttgcttcaaggccttgaat	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19755999A>G	ENST00000284885.3	-	4	474	c.441T>C	c.(439-441)aaT>aaC	p.N147N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	147	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGCTGGATTTATTTGCTTCAA	0.368													False	0	True	21:19755999	0	G	19755999	A	G	19755999	2	3	88	1	0	0	0	0	0	0	0	1	16328	446	16	4		4	TMPRSS15	21	19755999	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	89396	19755999	28373896	19715	27427											
NCAM2	4685	broad.mit.edu	37	chr21	22658710	22658710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggttgtatcataatgaGgaagtcaccactatttccga	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22658710G>A	ENST00000400546.1	+	4	708	c.459G>A	c.(457-459)gaG>gaA	p.E153E	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Silent_p.E178E|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	153	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATCATAATGAGGAAGTCACCA	0.388													False	0	False	21:22658710	0	A	22658710	G	A	22658710	2	1	88	1	0	0	0	0	0	0	0	1	10271	991	35	2		2	NCAM2	21	22658710	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2902711	22658710	25471185	19716	27428											
NCAM2	4685	broad.mit.edu	37	chr21	22664525	22664525	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagagtggaggccaggggaGaaattgacttccgtgatatc	15	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22664525G>T	ENST00000400546.1	+	5	832	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E53*|NCAM2_ENST00000535285.1_Nonsense_Mutation_p.E220*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	195	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGCCAGGGGAGAAATTGACTT	0.338													False	0	True	21:22664525	0	T	22664525	G	T	22664525	4	4	88	1	0	0	0	0	0	1	0	0	10271	943	33	3	601	3	NCAM2	21	22664525	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5815	22664525	25465370	19717	27429											
NCAM2	4685	broad.mit.edu	37	chr21	22746295	22746295	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaagctgcaagcagaaTtggagggcatcaaaagagca	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22746295T>G	ENST00000400546.1	+	9	1406	c.1157T>G	c.(1156-1158)aTt>aGt	p.I386S	NCAM2_ENST00000284894.7_Missense_Mutation_p.I244S|NCAM2_ENST00000535285.1_Missense_Mutation_p.I411S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	386	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCAAGCAGAATTGGAGGGCAT	0.368													False	0	False	21:22746295	0	G	22746295	T	G	22746295	3	3	88	1	0	0	0	0	1	0	0	0	10271	1493	52	4	1191	4	NCAM2	21	22746295	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81770	22746295	25383600	19718	27430											
NCAM2	4685	broad.mit.edu	37	chr21	22804437	22804437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgtccatagacgtgccatCcagtccctatggagtgaaga	10	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22804437C>T	ENST00000400546.1	+	12	1739	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	NCAM2_ENST00000284894.7_Missense_Mutation_p.S355F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	497	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GACGTGCCATCCAGTCCCTAT	0.443													False	0	False	21:22804437	0	T	22804437	C	T	22804437	3	4	88	1	0	0	0	0	1	0	0	0	10271	855	30	2	1536	2	NCAM2	21	22804437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58142	22804437	25325458	19719	27431											
NCAM2	4685	broad.mit.edu	37	chr21	22840987	22840987	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtattgtatatctaggtgaAccaagtcctccatccataca	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22840987A>G	ENST00000400546.1	+	14	2028	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	NCAM2_ENST00000284894.7_Silent_p.E451E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	593	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATCTAGGTGAACCAAGTCCTC	0.363													False	0	False	21:22840987	0	G	22840987	A	G	22840987	2	3	88	1	0	0	0	0	0	0	0	1	10271	40	2	4		4	NCAM2	21	22840987	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36550	22840987	25288908	19720	27432											
NCAM2	4685	broad.mit.edu	37	chr21	22849623	22849623	+	Missense_Mutation	SNP	A	A	C													ctttcacagaaagataaggaAgaccaatggctagagaaaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22849623A>C	ENST00000400546.1	+	15	2157	c.1908A>C	c.(1906-1908)gaA>gaC	p.E636D	NCAM2_ENST00000284894.7_Missense_Mutation_p.E494D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	636	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAGATAAGGAAGACCAATGGC	0.348													False	0	False	21:22849623	0	C	22849623	A	C	22849623	3	2	88	1	0	0	0	0	1	0	0	0	10271	69	3	4	1966	4	NCAM2	21	22849623	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8636	22849623	25280272	19721	27433	286	2									
NCAM2	4685	broad.mit.edu	37	chr21	22849626	22849626	+	Silent	SNP	C	C	T													tcacagaaagataaggaagaCcaatggctagagaaaaaagt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22849626C>T	ENST00000400546.1	+	15	2160	c.1911C>T	c.(1909-1911)gaC>gaT	p.D637D	NCAM2_ENST00000284894.7_Silent_p.D495D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	637	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATAAGGAAGACCAATGGCTAG	0.348													False	0	False	21:22849626	0	T	22849626	C	T	22849626	2	4	88	1	0	0	0	0	0	0	0	1	10271	506	18	2		2	NCAM2	21	22849626	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	22849626	25280269	19722	27434	286	2									
MRPL39	54148	broad.mit.edu	37	chr21	26960040	26960040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgttccatggaggaggtacGactcaggcgaggtagtgaag	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:26960040G>A	ENST00000307301.7	-	10	1072	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	MRPL39_ENST00000352957.4_Intron	NM_080794.3	NP_542984	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	0						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						GAGGAGGTACGACTCAGGCGA	0.353													False	0	False	21:26960040	0	A	26960040	G	A	26960040	3	1	88	1	0	0	0	0	1	0	0	0	9869	1059	37	1	82	1	MRPL39	21	26960040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4110414	26960040	21169855	19723	27435											
JAM2	58494	broad.mit.edu	37	chr21	27066137	27066137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtgacaagaagtgatgCggggaaatatcgttgtgaag	14	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27066137C>T	ENST00000480456.1	+	4	861	c.311C>T	c.(310-312)gCg>gTg	p.A104V	JAM2_ENST00000400532.1_Missense_Mutation_p.A104V|JAM2_ENST00000312957.5_Missense_Mutation_p.A104V|JAM2_ENST00000425221.2_Missense_Mutation_p.A68V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	104	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.A104V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGAAGTGATGCGGGGAAATAT	0.388													False	0	True	21:27066137	0	T	27066137	C	T	27066137	3	4	88	1	0	0	0	0	1	0	0	0	7993	768	27	1	325	1	JAM2	21	27066137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106097	27066137	21063758	19724	27436											
JAM2	58494	broad.mit.edu	37	chr21	27071173	27071173	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagctcatacacaatgaaTacaaaaactggaactctggt	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27071173T>C	ENST00000480456.1	+	5	1129	c.579T>C	c.(577-579)aaT>aaC	p.N193N	JAM2_ENST00000400532.1_Silent_p.N193N|JAM2_ENST00000312957.5_Silent_p.N193N|JAM2_ENST00000425221.2_Silent_p.N157N	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	193	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						ACACAATGAATACAAAAACTG	0.373													False	0	False	21:27071173	0	C	27071173	T	C	27071173	2	2	88	1	0	0	0	0	0	0	0	1	7993	1403	49	4		4	JAM2	21	27071173	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5036	27071173	21058722	19725	27437											
ATP5J	522	broad.mit.edu	37	chr21	27107264	27107264	+	Translation_Start_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctacccgccatcgcaatgCattatgggccgccgtttcag	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27107264C>T	ENST00000457143.2	-	1	80	c.3G>A	c.(1-3)atG>atA	p.M1I	ATP5J_ENST00000400099.1_Intron|ATP5J_ENST00000400093.3_Intron|GABPA_ENST00000354828.3_5'UTR|ATP5J_ENST00000284971.3_5'UTR|ATP5J_ENST00000400087.3_Intron|ATP5J_ENST00000400090.3_Intron			P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6	0					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						CATCGCAATGCATTATGGGCC	0.647													False	0	False	21:27107264	0	T	27107264	C	T	27107264	1	4	88	1	0	0	0	0	0	0	0	0	1162	710	25	2		2	ATP5J	21	27107264	Translation_Start_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36091	27107264	21022631	19726	27438											
GABPA	2551	broad.mit.edu	37	chr21	27136617	27136617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaaagtacaaagagcgcCgaggatttcaggagaagata	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27136617C>T	ENST00000354828.3	+	8	1426	c.899C>T	c.(898-900)cCg>cTg	p.P300L	GABPA_ENST00000400075.3_Missense_Mutation_p.P300L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	300					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CAAAGAGCGCCGAGGATTTCA	0.358													False	0	False	21:27136617	0	T	27136617	C	T	27136617	3	4	88	1	0	0	0	0	1	0	0	0	6199	652	23	1	925	1	GABPA	21	27136617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29353	27136617	20993278	19727	27439											
GABPA	2551	broad.mit.edu	37	chr21	27141374	27141374	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagagatttgtgtacaagtTtgtctgtgacttgaagactc	10	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27141374T>G	ENST00000354828.3	+	10	1723	c.1196T>G	c.(1195-1197)tTt>tGt	p.F399C	GABPA_ENST00000400075.3_Missense_Mutation_p.F399C	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	399					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GTGTACAAGTTTGTCTGTGAC	0.363													False	0	True	21:27141374	0	G	27141374	T	G	27141374	3	3	88	1	0	0	0	0	1	0	0	0	6199	1841	64	4	1230	4	GABPA	21	27141374	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4757	27141374	20988521	19728	27440											
APP	351	broad.mit.edu	37	chr21	27354787	27354787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtactggctgctgttgtaGgaactataaagtagaagaga	14	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27354787G>T	ENST00000358918.3	-	9	1293	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	APP_ENST00000359726.3_Missense_Mutation_p.P309H|APP_ENST00000448388.2_Missense_Mutation_p.P255H|APP_ENST00000346798.3_Missense_Mutation_p.P365H|APP_ENST00000357903.3_Missense_Mutation_p.P346H|APP_ENST00000439274.2_Missense_Mutation_p.P309H|APP_ENST00000348990.5_Missense_Mutation_p.P290H|APP_ENST00000354192.3_Missense_Mutation_p.P234H|APP_ENST00000440126.3_Missense_Mutation_p.P341H	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	365					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGCTGTTGTAGGAACTATAAA	0.418													False	0	False	21:27354787	0	T	27354787	G	T	27354787	3	4	88	1	0	0	0	0	1	0	0	0	817	1000	35	3	1258	3	APP	21	27354787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	213413	27354787	20775108	19729	27441											
APP	351	broad.mit.edu	37	chr21	27394204	27394204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtggtggtggtggtggCaatgctggtggttctctctg	20	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27394204C>T	ENST00000358918.3	-	6	1016	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_Missense_Mutation_p.A273T|APP_ENST00000448388.2_Missense_Mutation_p.A238T|APP_ENST00000346798.3_Missense_Mutation_p.A273T|APP_ENST00000357903.3_Missense_Mutation_p.A273T|APP_ENST00000439274.2_Missense_Mutation_p.A217T|APP_ENST00000348990.5_Missense_Mutation_p.A273T|APP_ENST00000354192.3_Missense_Mutation_p.A217T|APP_ENST00000440126.3_Missense_Mutation_p.A268T	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	273					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				gtggtggtggcaatgctggtg	0.537													False	0	True	21:27394204	0	T	27394204	C	T	27394204	3	4	88	1	0	0	0	0	1	0	0	0	817	710	25	2	1547	2	APP	21	27394204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39417	27394204	20735691	19730	27442											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210028	28210028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttttttgtaacccttcCcacaggtcttagaacatgat	5	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28210028C>T	ENST00000284984.3	-	9	3228	c.2774G>A	c.(2773-2775)gGg>gAg	p.G925E		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1		TSP type-1 3.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GTAACCCTTCCCACAGGTCTT	0.488													False	0	True	21:28210028	0	T	28210028	C	T	28210028	3	4	88	1	0	0	0	0	1	0	0	0	255	623	22	2	133	2	ADAMTS1	21	28210028	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	815824	28210028	19919867	19731	27443											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296425	28296425	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaaggcctttgggagagagGacatccttttgctaacttcc	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28296425G>T	ENST00000284987.5	-	8	2861	c.2740C>A	c.(2740-2742)Cct>Act	p.P914T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	914	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGGAGAGAGGACATCCTTTT	0.507													False	0	True	21:28296425	0	T	28296425	G	T	28296425	3	4	88	1	0	0	0	0	1	0	0	0	269	1174	41	3	56	3	ADAMTS5	21	28296425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86397	28296425	19833470	19732	27444											
ADAMTS5	11096	broad.mit.edu	37	chr21	28302267	28302267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctcctccacatactccGcacttgtcatactgcagctt	5	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28302267G>A	ENST00000284987.5	-	7	2284	c.2163C>T	c.(2161-2163)tgC>tgT	p.C721C	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	721	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CACATACTCCGCACTTGTCAT	0.443													False	0	False	21:28302267	0	A	28302267	G	A	28302267	2	1	88	1	0	0	0	0	0	0	0	1	269	1079	38	1		1	ADAMTS5	21	28302267	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5842	28302267	19827628	19733	27445											
USP16	0	broad.mit.edu	37	chr21	30419159	30419159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgcataaagaatattgtGtcaaccagaaagatttgaat	7	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30419159G>A	ENST00000334352.4	+	15	1759	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	USP16_ENST00000399975.3_Missense_Mutation_p.V509I|USP16_ENST00000535828.1_Missense_Mutation_p.V139I|USP16_ENST00000399976.2_Missense_Mutation_p.V510I	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	510					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGAATATTGTGTCAACCAGAA	0.333													False	0	False	21:30419159	0	A	30419159	G	A	30419159	3	1	88	1	0	0	0	0	1	0	0	0	17131	1377	48	2	1578	2	USP16	21	30419159	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2116892	30419159	17710736	19734	27446											
USP16	0	broad.mit.edu	37	chr21	30419482	30419482	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagatccagaaactgctttCtgtactcttgcaaacaggga	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30419482C>A	ENST00000334352.4	+	15	2082	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000535828.1_Missense_Mutation_p.F246L|USP16_ENST00000399976.2_Missense_Mutation_p.F617L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	617					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AAACTGCTTTCTGTACTCTTG	0.363													False	0	True	21:30419482	0	A	30419482	C	A	30419482	3	1	88	1	0	0	0	0	1	0	0	0	17131	912	32	3	1901	3	USP16	21	30419482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	323	30419482	17710413	19735	27447											
CCT8	10694	broad.mit.edu	37	chr21	30433572	30433572	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcagtgttttttcaaatAcctcaatatctaatccaacg	4	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30433572A>G	ENST00000286788.4	-	13	1656		c.e13+1		CCT8_ENST00000542732.1_Splice_Site|CCT8_ENST00000470450.1_Splice_Site|CCT8_ENST00000540844.1_Splice_Site	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)						'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TTTTTCAAATACCTCAATATC	0.323													False	0	False	21:30433572	0	G	30433572	A	G	30433572	5	3	88	1	0	0	0	0	0	0	1	0	2983	405	14	4	207	4	CCT8	21	30433572	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14090	30433572	17696323	19736	27448											
BACH1	571	broad.mit.edu	37	chr21	30698591	30698591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaatgcttttcatcacActgtcagaaaacagacctta	4	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30698591A>G	ENST00000399921.1	+	3	689	c.446A>G	c.(445-447)cAc>cGc	p.H149R	BACH1_ENST00000286800.3_Missense_Mutation_p.H149R	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	149						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TTTTCATCACACTGTCAGAAA	0.373													False	0	False	21:30698591	0	G	30698591	A	G	30698591	3	3	88	1	0	0	0	0	1	0	0	0	1287	159	6	4	452	4	BACH1	21	30698591	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	265019	30698591	17431304	19737	27449											
CLDN17	26285	broad.mit.edu	37	chr21	31538308	31538308	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcattgtcgtatttcttcGcttatctgtgtgtggcacac	9	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31538308G>A	ENST00000286808.3	-	1	663	c.628C>T	c.(628-630)Cga>Tga	p.R210*		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	210					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GTATTTCTTCGCTTATCTGTG	0.453													False	0	False	21:31538308	0	A	31538308	G	A	31538308	4	1	88	1	0	0	0	0	0	1	0	0	3501	1095	38	1	50	1	CLDN17	21	31538308	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	839717	31538308	16591587	19738	27450											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654660	31654660	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatagctttggggttggcaGctgttggaaatataacataa	11	4	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31654660G>T	ENST00000340345.4	-	1	616	c.591C>A	c.(589-591)agC>agA	p.S197R		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	197	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGGGTTGGCAGCTGTTGGAAA	0.423													False	0	False	21:31654660	0	T	31654660	G	T	31654660	3	4	88	1	0	0	0	0	1	0	0	0	8593	962	34	3	177	3	KRTAP24-1	21	31654660	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116352	31654660	16475235	19739	27451											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744473	31744473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgaggatgctgggtagCgcaggtagtcaccacaggag	16	9	1	1	rs146985381	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31744473C>T	ENST00000399889.2	-	1	84	c.59G>A	c.(58-60)cGc>cAc	p.R20H		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	20						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TGCTGGGTAGCGCAGGTAGTC	0.542													False	0	False	21:31744473	0	T	31744473	C	T	31744473	3	4	88	1	0	0	0	0	1	0	0	0	8573	768	27	1	472	1	KRTAP13-2	21	31744473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89813	31744473	16385422	19740	27452											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768629	31768629	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctatgtggagtccagcccCtgccagacctcctgctaccg	9	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31768629C>A	ENST00000355459.2	+	1	238	c.225C>A	c.(223-225)ccC>ccA	p.P75P		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	75	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTCCAGCCCCTGCCAGACCT	0.612													False	0	True	21:31768629	0	A	31768629	C	A	31768629	2	1	88	1	0	0	0	0	0	0	0	1	8572	668	24	3		3	KRTAP13-1	21	31768629	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24156	31768629	16361266	19741	27453											
KRTAP13-4	284827	broad.mit.edu	37	chr21	31802628	31802628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctctagaaacttctcctCccgctcctttgggggctacc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31802628C>T	ENST00000334068.2	+	1	57	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	12						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						AACTTCTCCTCCCGCTCCTTT	0.547													False	0	True	21:31802628	0	T	31802628	C	T	31802628	3	4	88	1	0	0	0	0	1	0	0	0	8575	855	30	2	37	2	KRTAP13-4	21	31802628	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33999	31802628	16327267	19742	27454											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812700	31812700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgttttggaagttacCtgaggtatccagtttccact	9	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31812700C>A	ENST00000334067.3	+	1	104	c.55C>A	c.(55-57)Ctg>Atg	p.L19M		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	19						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGAAGTTACCTGAGGTATCC	0.463													False	0	False	21:31812700	0	A	31812700	C	A	31812700	3	1	88	1	0	0	0	0	1	0	0	0	8576	680	24	3	57	3	KRTAP15-1	21	31812700	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10072	31812700	16317195	19743	27455											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812852	31812852	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcctgcactttggccagAtcctatcagacatcctgtta	6	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31812852A>C	ENST00000334067.3	+	1	256	c.207A>C	c.(205-207)agA>agC	p.R69S		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	69						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CTTTGGCCAGATCCTATCAGA	0.512													False	0	False	21:31812852	0	C	31812852	A	C	31812852	3	2	88	1	0	0	0	0	1	0	0	0	8576	330	12	4	209	4	KRTAP15-1	21	31812852	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	152	31812852	16317043	19744	27456											
KRTAP19-1	337882	broad.mit.edu	37	chr21	31852458	31852458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagagccatatccgtagcctCcaaagccagagccatatccg	8	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31852458C>A	ENST00000390689.2	-	1	205	c.179G>T	c.(178-180)gGa>gTa	p.G60V		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	60	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCCGTAGCCTCCAAAGCCAGA	0.522													False	0	False	21:31852458	0	A	31852458	C	A	31852458	3	1	88	1	0	0	0	0	1	0	0	0	8578	855	30	3	95	3	KRTAP19-1	21	31852458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39606	31852458	16277437	19745	27457											
KRTAP19-4	337971	broad.mit.edu	37	chr21	31869270	31869270	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaatccatatcctccataGcatgatgggcggcagtagcc	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31869270G>T	ENST00000334058.2	-	1	181	c.159C>A	c.(157-159)tgC>tgA	p.C53*		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	53						intermediate filament		p.C53C(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATCCTCCATAGCATGATGGGC	0.473													False	0	False	21:31869270	0	T	31869270	G	T	31869270	4	4	88	1	0	0	0	0	0	1	0	0	8581	963	34	3	98	3	KRTAP19-4	21	31869270	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16812	31869270	16260625	19746	27458											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007688	32007688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatggctatggaggcctgGgctgtggctatggccgtggc	18	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32007688G>T	ENST00000330798.2	+	1	134	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	36						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGGAGGCCTGGGCTGTGGCTA	0.547													False	0	True	21:32007688	0	T	32007688	G	T	32007688	3	4	88	1	0	0	0	0	1	0	0	0	8587	1232	43	3	108	3	KRTAP20-2	21	32007688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138418	32007688	16122207	19747	27459											
KRTAP21-1	337977	broad.mit.edu	37	chr21	32127556	32127556	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagccagttccataaccacaGccataatgggagccaaaccc	7	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32127556G>T	ENST00000335093.3	-	1	190	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	47						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						cataaccacagccataatggg	0.542													False	0	False	21:32127556	0	T	32127556	G	T	32127556	2	4	88	1	0	0	0	0	0	0	0	1	8588	958	34	3		3	KRTAP21-1	21	32127556	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119868	32127556	16002339	19748	27460											
KRTAP11-1	0	broad.mit.edu	37	chr21	32253481	32253481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgccgcccactggttgGcagacactggagatgcctcc	13	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32253481G>A	ENST00000332378.4	-	1	393	c.363C>T	c.(361-363)tgC>tgT	p.C121C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	121	4 X 10 AA approximate repeats.					keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CCACTGGTTGGCAGACACTGG	0.577													False	0	False	21:32253481	0	A	32253481	G	A	32253481	2	1	88	1	0	0	0	0	0	0	0	1	8567	1195	42	2		2	KRTAP11-1	21	32253481	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125925	32253481	15876414	19749	27461											
KRTAP19-8	728299	broad.mit.edu	37	chr21	32410635	32410635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacagctgaatccatagCctccgtagccacagccatag	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32410635C>T	ENST00000382822.2	-	1	160	c.128G>A	c.(127-129)gGc>gAc	p.G43D		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	43						intermediate filament				endometrium(2)|upper_aerodigestive_tract(1)	3						GAATCCATAGCCTCCGTAGCC	0.532													False	0	False	21:32410635	0	T	32410635	C	T	32410635	3	4	88	1	0	0	0	0	1	0	0	0	8585	739	26	2	67	2	KRTAP19-8	21	32410635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157154	32410635	15719260	19750	27462											
TIAM1	7074	broad.mit.edu	37	chr21	32492816	32492816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcttgagctgtgccatgCgggacgcgtgactatccagg	14	11	1	2	rs143032407	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32492816C>T	ENST00000286827.3	-	29	5117	c.4646G>A	c.(4645-4647)cGc>cAc	p.R1549H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1489H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1549					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGTGCCATGCGGGACGCGTG	0.597													False	0	True	21:32492816	0	T	32492816	C	T	32492816	3	4	88	1	0	0	0	0	1	0	0	0	15972	768	27	1	133	1	TIAM1	21	32492816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82181	32492816	15637079	19751	27463											
TIAM1	7074	broad.mit.edu	37	chr21	32526607	32526607	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaggagctcgcagatcacCttgcgcagcttatctgcatc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32526607C>A	ENST00000286827.3	-	18	3600	c.3129G>T	c.(3127-3129)aaG>aaT	p.K1043N	TIAM1_ENST00000541036.1_Missense_Mutation_p.K983N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1043	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCAGATCACCTTGCGCAGCT	0.567													False	0	False	21:32526607	0	A	32526607	C	A	32526607	3	1	88	1	0	0	0	0	1	0	0	0	15972	680	24	3	1694	3	TIAM1	21	32526607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33791	32526607	15603288	19752	27464											
TIAM1	7074	broad.mit.edu	37	chr21	32537345	32537345	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcggtctcctctggagcggtCtcagcactgctgccctgctc	11	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32537345C>T	ENST00000286827.3	-	17	3396	c.2925G>A	c.(2923-2925)gaG>gaA	p.E975E	TIAM1_ENST00000541036.1_Silent_p.E915E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	975					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGGAGCGGTCTCAGCACTGC	0.512													False	0	False	21:32537345	0	T	32537345	C	T	32537345	2	4	88	1	0	0	0	0	0	0	0	1	15972	912	32	2		2	TIAM1	21	32537345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10738	32537345	15592550	19753	27465											
TIAM1	7074	broad.mit.edu	37	chr21	32624336	32624336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtacaccccctgacgagccGcatccccggtggagctgctg	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32624336G>A	ENST00000286827.3	-	6	1604	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	TIAM1_ENST00000541036.1_Missense_Mutation_p.A378V|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	378					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGACGAGCCGCATCCCCGGT	0.662													False	0	False	21:32624336	0	A	32624336	G	A	32624336	3	1	88	1	0	0	0	0	1	0	0	0	15972	1087	38	1	3738	1	TIAM1	21	32624336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86991	32624336	15505559	19754	27466											
C21orf59	56683	broad.mit.edu	37	chr21	33984442	33984442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgctgcaccttgagccGcccattatagacccgggcca	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33984442G>A	ENST00000382549.4	-	1	454	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	C21orf59_ENST00000540881.1_Missense_Mutation_p.R38W|C21orf59_ENST00000290155.3_Missense_Mutation_p.R38W|AP000275.65_ENST00000553001.1_Missense_Mutation_p.R38W			P57076	CU059_HUMAN	chromosome 21 open reading frame 59	38						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						ACCTTGAGCCGCCCATTATAG	0.682													False	0	True	21:33984442	0	A	33984442	G	A	33984442	3	1	88	1	0	0	0	0	1	0	0	0	2146	1086	38	1	788	1	C21orf59	21	33984442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1360106	33984442	14145453	19755	27467											
IFNAR2	3455	broad.mit.edu	37	chr21	34619141	34619141	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgtcctagaaggattcAgcgggaacacaacgttgttc	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34619141A>C	ENST00000404220.3	+	5	669	c.340A>C	c.(340-342)Agc>Cgc	p.S114R	IFNAR2_ENST00000382264.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000342136.4_Missense_Mutation_p.S114R|IFNAR2_ENST00000413881.1_Missense_Mutation_p.S42R|AP000295.9_ENST00000433395.2_Silent_p.S21S|IFNAR2_ENST00000420068.1_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S114R			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	114					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGAAGGATTCAGCGGGAACAC	0.468													False	0	False	21:34619141	0	C	34619141	A	C	34619141	3	2	88	1	0	0	0	0	1	0	0	0	7595	188	7	4	354	4	IFNAR2	21	34619141	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	634699	34619141	13510754	19756	27468											
IFNAR2	3455	broad.mit.edu	37	chr21	34635602	34635602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttagaagcccctctgatgCtatcgtctcatctggaagag	9	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34635602C>T	ENST00000342136.4	+	9	1671	c.1345C>T	c.(1345-1347)Cta>Tta	p.L449L	IFNAR2_ENST00000404220.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Silent_p.L449L|IFNAR2_ENST00000342101.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	449					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CCCTCTGATGCTATCGTCTCA	0.498													False	0	False	21:34635602	0	T	34635602	C	T	34635602	2	4	88	1	0	0	0	0	0	0	0	1	7595	796	28	2		2	IFNAR2	21	34635602	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16461	34635602	13494293	19757	27469											
IL10RB	3588	broad.mit.edu	37	chr21	34652146	34652146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaaaattgagaatgaatacGaaacttggactatgaagaat	8	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34652146G>A	ENST00000290200.2	+	4	529	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	AP000295.9_ENST00000433395.2_Silent_p.T268T	NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GAATGAATACGAAACTTGGAC	0.378													False	0	True	21:34652146	0	A	34652146	G	A	34652146	3	1	88	1	0	0	0	0	1	0	0	0	7671	1059	37	1	435	1	IL10RB	21	34652146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16544	34652146	13477749	19758	27470											
IFNAR1	3454	broad.mit.edu	37	chr21	34725173	34725173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatgaaaagctgaataaaaGcagtgtttttagtgacgctg	12	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34725173G>T	ENST00000270139.3	+	9	1405	c.1253G>T	c.(1252-1254)aGc>aTc	p.S418I	IFNAR1_ENST00000416947.2_Missense_Mutation_p.S349I|IFNAR1_ENST00000442357.2_Intron	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	418	Fibronectin type-III 3.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTGAATAAAAGCAGTGTTTTT	0.328													False	0	True	21:34725173	0	T	34725173	G	T	34725173	3	4	88	1	0	0	0	0	1	0	0	0	7594	971	34	3	1287	3	IFNAR1	21	34725173	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73027	34725173	13404722	19759	27471											
IFNAR1	3454	broad.mit.edu	37	chr21	34727821	34727821	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgaaagcgaaagtaAaacaagtgaagaactacagc	10	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34727821A>C	ENST00000270139.3	+	11	1792	c.1640A>C	c.(1639-1641)aAa>aCa	p.K547T	IFNAR1_ENST00000416947.2_Missense_Mutation_p.K478T|IFNAR1_ENST00000442357.2_Missense_Mutation_p.K486T	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	547					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGCGAAAGTAAAACAAGTGAA	0.373													False	0	True	21:34727821	0	C	34727821	A	C	34727821	3	2	88	1	0	0	0	0	1	0	0	0	7594	14	1	4	1682	4	IFNAR1	21	34727821	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2648	34727821	13402074	19760	27472											
DNAJC28	54943	broad.mit.edu	37	chr21	34861515	34861515	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctgacttcatctgcagaGcatccttcctccacgttcag	6	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34861515G>T	ENST00000314399.3	-	2	624	c.186C>A	c.(184-186)tgC>tgA	p.C62*	DNAJC28_ENST00000381947.3_Nonsense_Mutation_p.C62*|DNAJC28_ENST00000402202.1_Nonsense_Mutation_p.C62*	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	62	J.						heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CATCTGCAGAGCATCCTTCCT	0.373													False	0	False	21:34861515	0	T	34861515	G	T	34861515	4	4	88	1	0	0	0	0	0	1	0	0	4676	963	34	3	984	3	DNAJC28	21	34861515	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133694	34861515	13268380	19761	27473											
SON	6651	broad.mit.edu	37	chr21	34923064	34923064	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaccgaacaacctgtgacGacgacagagttggagcagcc	12	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34923064G>A	ENST00000356577.4	+	3	2002	c.1527G>A	c.(1525-1527)acG>acA	p.T509T	SON_ENST00000300278.4_Silent_p.T509T|SON_ENST00000290239.6_Silent_p.T509T|SON_ENST00000381679.4_Silent_p.T509T|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	509					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACCTGTGACGACGACAGAGT	0.582													False	0	True	21:34923064	0	A	34923064	G	A	34923064	2	1	88	1	0	0	0	0	0	0	0	1	15006	1045	37	1		1	SON	21	34923064	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61549	34923064	13206831	19762	27474											
SON	6651	broad.mit.edu	37	chr21	34927550	34927550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagatcaaggtctgtgGtaagaagacgaagcttcagt	14	5	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34927550G>A	ENST00000356577.4	+	3	6488	c.6013G>A	c.(6013-6015)Gta>Ata	p.V2005I	SON_ENST00000300278.4_Missense_Mutation_p.V2005I|SON_ENST00000290239.6_Missense_Mutation_p.V2005I|SON_ENST00000381679.4_Missense_Mutation_p.V2005I|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2005	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AAGGTCTGTGGTAAGAAGACG	0.597													False	0	False	21:34927550	0	A	34927550	G	A	34927550	3	1	88	1	0	0	0	0	1	0	0	0	15006	1261	44	2	6023	2	SON	21	34927550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4486	34927550	13202345	19763	27475											
CRYZL1	9946	broad.mit.edu	37	chr21	34997011	34997011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtatttatctggctcagaGcacaagctttaacttgaagt	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34997011G>A	ENST00000361534.2	-	4	333	c.194C>T	c.(193-195)gCt>gTt	p.A65V	AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000381554.3_Missense_Mutation_p.A41V|CRYZL1_ENST00000445393.1_Missense_Mutation_p.A41V|CRYZL1_ENST00000381540.3_Missense_Mutation_p.A41V|CRYZL1_ENST00000290244.5_Missense_Mutation_p.A41V|CRYZL1_ENST00000413017.2_Missense_Mutation_p.A41V			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	41					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CTGGCTCAGAGCACAAGCTTT	0.308													False	0	False	21:34997011	0	A	34997011	G	A	34997011	3	1	88	1	0	0	0	0	1	0	0	0	3946	971	34	2	971	2	CRYZL1	21	34997011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69461	34997011	13132884	19764	27476											
ITSN1	6453	broad.mit.edu	37	chr21	35094941	35094941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgggttacctcaacctgTtttagcacagatatggtaag	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35094941T>C	ENST00000381318.3	+	4	458	c.170T>C	c.(169-171)gTt>gCt	p.V57A	ITSN1_ENST00000381285.4_Missense_Mutation_p.V57A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.V57A|ITSN1_ENST00000399352.1_Missense_Mutation_p.V57A|ITSN1_ENST00000437442.2_Missense_Mutation_p.V57A|ITSN1_ENST00000399353.1_Missense_Mutation_p.V57A|ITSN1_ENST00000399338.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399326.3_Missense_Mutation_p.V57A|ITSN1_ENST00000399355.2_Missense_Mutation_p.V57A|ITSN1_ENST00000399349.1_Missense_Mutation_p.V57A|ITSN1_ENST00000379960.5_Missense_Mutation_p.V57A|ITSN1_ENST00000381291.4_Missense_Mutation_p.V57A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	57	EF-hand 1.|EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCTCAACCTGTTTTAGCACAG	0.279													False	0	True	21:35094941	0	C	35094941	T	C	35094941	3	2	88	1	0	0	0	0	1	0	0	0	7976	1725	60	4	180	4	ITSN1	21	35094941	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97930	35094941	13034954	19765	27477											
ITSN1	6453	broad.mit.edu	37	chr21	35191585	35191585	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtcctgctagtctaaagCgagtagcctctccagcagcc	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35191585C>T	ENST00000381318.3	+	24	3262	c.2974C>T	c.(2974-2976)Cga>Tga	p.R992*	ITSN1_ENST00000399326.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.R992*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000437442.2_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.R992*|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.R950*|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.R987*	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	992					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TAGTCTAAAGCGAGTAGCCTC	0.423													False	0	False	21:35191585	0	T	35191585	C	T	35191585	4	4	88	1	0	0	0	0	0	1	0	0	7976	760	27	1	3064	1	ITSN1	21	35191585	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96644	35191585	12938310	19766	27478											
ITSN1	6453	broad.mit.edu	37	chr21	35202044	35202044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatggtgggaaggagagCtgcaagtcagtgtctttttt	16	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35202044C>T	ENST00000381318.3	+	27	3634	c.3346C>T	c.(3346-3348)Ctg>Ttg	p.L1116L	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.L1116L|ITSN1_ENST00000381291.4_Silent_p.L1116L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Silent_p.L1111L|ITSN1_ENST00000437442.2_Silent_p.L1111L|ITSN1_ENST00000399367.3_Silent_p.L1111L|ITSN1_ENST00000399355.2_Silent_p.L1045L|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399353.1_Silent_p.L1074L|ITSN1_ENST00000399349.1_Silent_p.L1040L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1116	SH3 4.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAAGGAGAGCTGCAAGTCAG	0.463													False	0	False	21:35202044	0	T	35202044	C	T	35202044	2	4	88	1	0	0	0	0	0	0	0	1	7976	796	28	2		2	ITSN1	21	35202044	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10459	35202044	12927851	19767	27479											
ITSN1	6453	broad.mit.edu	37	chr21	35208915	35208915	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attatgtgaagctgaccacaGacatggacccaagccagcaa	9	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35208915G>T	ENST00000381318.3	+	29	3928	c.3640G>T	c.(3640-3642)Gac>Tac	p.D1214Y	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000381291.4_Missense_Mutation_p.D1214Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Missense_Mutation_p.D1209Y|ITSN1_ENST00000437442.2_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399367.3_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.D1143Y|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399353.1_Missense_Mutation_p.D1172Y|ITSN1_ENST00000399349.1_Missense_Mutation_p.D1138Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1214	SH3 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.D1214H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCTGACCACAGACATGGACCC	0.522													False	0	False	21:35208915	0	T	35208915	G	T	35208915	3	4	88	1	0	0	0	0	1	0	0	0	7976	942	33	3	3750	3	ITSN1	21	35208915	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6871	35208915	12920980	19768	27480											
ITSN1	6453	broad.mit.edu	37	chr21	35237530	35237530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagacatcctgagcgcacaGctgccgcacatgcagcccta	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35237530G>T	ENST00000381318.3	+	32	4254	c.3966G>T	c.(3964-3966)caG>caT	p.Q1322H	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q1322H|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.Q1317H|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q1317H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1322	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGAGCGCACAGCTGCCGCACA	0.602													False	0	False	21:35237530	0	T	35237530	G	T	35237530	3	4	88	1	0	0	0	0	1	0	0	0	7976	962	34	3	4094	3	ITSN1	21	35237530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28615	35237530	12892365	19769	27481											
ITSN1	6453	broad.mit.edu	37	chr21	35247768	35247768	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaggggtgcgggagaaggaGaactctgaccggctggagtg	20	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35247768G>T	ENST00000381318.3	+	34	4572	c.4284G>T	c.(4282-4284)gaG>gaT	p.E1428D	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1428D|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1423D	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1428					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGGAGAAGGAGAACTCTGACC	0.637													False	0	True	21:35247768	0	T	35247768	G	T	35247768	3	4	88	1	0	0	0	0	1	0	0	0	7976	933	33	3	4420	3	ITSN1	21	35247768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10238	35247768	12882127	19770	27482											
ITSN1	6453	broad.mit.edu	37	chr21	35254750	35254750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacctgcagtataaaatGtataaaacagtaagttggat	7	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35254750G>A	ENST00000381318.3	+	35	4833	c.4545G>A	c.(4543-4545)atG>atA	p.M1515I	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.M1515I|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.M1454I|ITSN1_ENST00000399367.3_Missense_Mutation_p.M1510I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1515	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGTATAAAATGTATAAAACAG	0.433													False	0	False	21:35254750	0	A	35254750	G	A	35254750	3	1	88	1	0	0	0	0	1	0	0	0	7976	1377	48	2	4685	2	ITSN1	21	35254750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6982	35254750	12875145	19771	27483											
SLC5A3	6526	broad.mit.edu	37	chr21	35467703	35467703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcacttcattgggctggCaggatctggagctgcaagtg	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35467703C>T	ENST00000608209.1	+	2	718	c.206C>T	c.(205-207)gCa>gTa	p.A69V	MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Missense_Mutation_p.A69V|AP000320.7_ENST00000362077.4_RNA	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATTGGGCTGGCAGGATCTGGA	0.498													False	0	False	21:35467703	0	T	35467703	C	T	35467703	3	4	88	1	0	0	0	0	1	0	0	0	14746	710	25	2	208	2	SLC5A3	21	35467703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212953	35467703	12662192	19772	27484											
SLC5A3	6526	broad.mit.edu	37	chr21	35469406	35469406	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttactccaatgggcaagcaGctctcatgggtgagaaagag	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35469406G>T	ENST00000608209.1	+	2	2421	c.1909G>T	c.(1909-1911)Gct>Tct	p.A637S	MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Missense_Mutation_p.A637S|AP000320.7_ENST00000362077.4_RNA	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGGGCAAGCAGCTCTCATGGG	0.478													False	0	False	21:35469406	0	T	35469406	G	T	35469406	3	4	88	1	0	0	0	0	1	0	0	0	14746	971	34	3	1911	3	SLC5A3	21	35469406	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1703	35469406	12660489	19773	27485											
KCNE2	0	broad.mit.edu	37	chr21	35742840	35742840	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccgaaggatttttattacTtatatggacaattggcgcca	8	7	0	0	rs138954752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35742840T>G	ENST00000290310.3	+	2	203	c.63T>G	c.(61-63)acT>acG	p.T21T		NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2						blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(1)	2						TTTTTATTACTTATATGGACA	0.433													False	0	False	21:35742840	0	G	35742840	T	G	35742840	2	3	88	1	0	0	0	0	0	0	0	1	8073	1596	56	4		4	KCNE2	21	35742840	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	273434	35742840	12387055	19774	27486											
KCNE1	3753	broad.mit.edu	37	chr21	35821672	35821672	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggccttgtccttctcttgCcaggcatcggactcgatgta	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35821672C>T	ENST00000337385.3	-	3	636	c.261G>A	c.(259-261)tgG>tgA	p.W87*	KCNE1_ENST00000432085.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399289.3_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399284.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399286.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000416357.2_Nonsense_Mutation_p.W87*	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	87			W -> R (in LQT5).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CCTTCTCTTGCCAGGCATCGG	0.552													False	0	False	21:35821672	0	T	35821672	C	T	35821672	4	4	88	1	0	0	0	0	0	1	0	0	8071	740	26	2	132	2	KCNE1	21	35821672	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78832	35821672	12308223	19775	27487											
RCAN1	1827	broad.mit.edu	37	chr21	35890400	35890400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagctgaggtggatcggCgtgtactccggcctcctggt	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35890400C>T	ENST00000481448.1	-	5	1197	c.711G>A	c.(709-711)acG>acA	p.T237T	RCAN1_ENST00000487990.1_Silent_p.T112T|RCAN1_ENST00000482533.1_Silent_p.T112T|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000381132.2_Silent_p.T192T|RCAN1_ENST00000443408.2_Silent_p.T112T|RCAN1_ENST00000313806.4_Silent_p.T247T|RCAN1_ENST00000399272.1_Silent_p.T166T|RCAN1_ENST00000381135.3_Silent_p.T237T			P53805	RCAN1_HUMAN	regulator of calcineurin 1	247					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGTGGATCGGCGTGTACTCCG	0.498													False	0	False	21:35890400	0	T	35890400	C	T	35890400	2	4	88	1	0	0	0	0	0	0	0	1	13247	755	27	1		1	RCAN1	21	35890400	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68728	35890400	12239495	19776	27488											
CLIC6	54102	broad.mit.edu	37	chr21	36088748	36088748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatcaagagattgaacacGcatattcagatgttgcaaaa	8	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:36088748G>A	ENST00000360731.3	+	7	2083	c.2083G>A	c.(2083-2085)Gca>Aca	p.A695T	CLIC6_ENST00000349499.2_Missense_Mutation_p.A677T			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	695	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GATTGAACACGCATATTCAGA	0.378													False	0	False	21:36088748	0	A	36088748	G	A	36088748	3	1	88	1	0	0	0	0	1	0	0	0	3553	1087	38	1	2051	1	CLIC6	21	36088748	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	198348	36088748	12041147	19777	27489											
SETD4	54093	broad.mit.edu	37	chr21	37410520	37410520	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctatgtccaaacttgtcttCtcattcgtatctgaaattac	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37410520C>T	ENST00000399215.1	-	9	2488	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Silent_p.E372E|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399212.1_Silent_p.E348E			Q9NVD3	SETD4_HUMAN	SET domain containing 4	372				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						AACTTGTCTTCTCATTCGTAT	0.353													False	0	False	21:37410520	0	T	37410520	C	T	37410520	2	4	88	1	0	0	0	0	0	0	0	1	14214	912	32	2		2	SETD4	21	37410520	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1321772	37410520	10719375	19778	27490											
SETD4	54093	broad.mit.edu	37	chr21	37416128	37416128	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attatggacagaaacaaatcCgtattccaggaacagccgtt	8	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37416128C>A	ENST00000399215.1	-	6	2225	c.853G>T	c.(853-855)Gga>Tga	p.G285*	SETD4_ENST00000399201.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Nonsense_Mutation_p.G285*|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399208.2_Nonsense_Mutation_p.G285*|SETD4_ENST00000399207.1_Nonsense_Mutation_p.G285*|SETD4_ENST00000399212.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000399205.1_Nonsense_Mutation_p.G261*			Q9NVD3	SETD4_HUMAN	SET domain containing 4	285										autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GAAACAAATCCGTATTCCAGG	0.378													False	0	False	21:37416128	0	A	37416128	C	A	37416128	4	1	88	1	0	0	0	0	0	1	0	0	14214	661	23	3	512	3	SETD4	21	37416128	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5608	37416128	10713767	19779	27491											
SETD4	54093	broad.mit.edu	37	chr21	37420647	37420647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcttcgaatcactgtgtcCgtggtgagcaggcaactctc	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37420647C>T	ENST00000399215.1	-	4	1627	c.255G>A	c.(253-255)acG>acA	p.T85T	SETD4_ENST00000399201.1_Silent_p.T61T|SETD4_ENST00000481477.1_Intron|SETD4_ENST00000332131.4_Silent_p.T85T|SETD4_ENST00000399208.2_Silent_p.T85T|SETD4_ENST00000399207.1_Silent_p.T85T|SETD4_ENST00000399212.1_Silent_p.T61T|SETD4_ENST00000399205.1_Silent_p.T61T			Q9NVD3	SETD4_HUMAN	SET domain containing 4	85	SET.									autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TCACTGTGTCCGTGGTGAGCA	0.478													False	0	False	21:37420647	0	T	37420647	C	T	37420647	2	4	88	1	0	0	0	0	0	0	0	1	14214	639	23	1		1	SETD4	21	37420647	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4519	37420647	10709248	19780	27492											
DOPEY2	9980	broad.mit.edu	37	chr21	37537005	37537005	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tattttttgatttgcttttaGatacttttctgctgtgagaa	7	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37537005G>T	ENST00000399151.3	+	2	59		c.e2-1			NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2						endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTGCTTTTAGATACTTTTCT	0.393													False	0	False	21:37537005	0	T	37537005	G	T	37537005	5	4	88	1	0	0	0	0	0	0	1	0	4738	956	33	3		3	DOPEY2	21	37537005	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116358	37537005	10592890	19781	27493											
DOPEY2	9980	broad.mit.edu	37	chr21	37617678	37617678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttctcctccccttcccacGacctgcaggagctgagcaac	7	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617678G>A	ENST00000399151.3	+	19	3485	c.3400G>A	c.(3400-3402)Gac>Aac	p.D1134N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1134					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCTTCCCACGACCTGCAGGA	0.662													False	0	False	21:37617678	0	A	37617678	G	A	37617678	3	1	88	1	0	0	0	0	1	0	0	0	4738	1058	37	1	3470	1	DOPEY2	21	37617678	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80673	37617678	10512217	19782	27494											
DOPEY2	9980	broad.mit.edu	37	chr21	37617780	37617780	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctggcggccttccagtcaGaaagcttcaaggctggggcc	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617780G>A	ENST00000399151.3	+	19	3587	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1168					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTTCCAGTCAGAAAGCTTCAA	0.637													False	0	True	21:37617780	0	A	37617780	G	A	37617780	3	1	88	1	0	0	0	0	1	0	0	0	4738	943	33	2	3572	2	DOPEY2	21	37617780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102	37617780	10512115	19783	27495											
DOPEY2	9980	broad.mit.edu	37	chr21	37617836	37617836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggactcggacaagacGcaggcttctgagtcgttctc	14	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617836G>A	ENST00000399151.3	+	19	3643	c.3558G>A	c.(3556-3558)acG>acA	p.T1186T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1186					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGGACAAGACGCAGGCTTCTG	0.642													False	0	False	21:37617836	0	A	37617836	G	A	37617836	2	1	88	1	0	0	0	0	0	0	0	1	4738	1074	38	1		1	DOPEY2	21	37617836	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56	37617836	10512059	19784	27496											
DOPEY2	9980	broad.mit.edu	37	chr21	37620829	37620829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgatctcctaggggccaCgaagggatcctcttccgttt	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37620829C>T	ENST00000399151.3	+	21	5046	c.4961C>T	c.(4960-4962)aCg>aTg	p.T1654M		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1654					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTAGGGGCCACGAAGGGATCC	0.448													False	0	False	21:37620829	0	T	37620829	C	T	37620829	3	4	88	1	0	0	0	0	1	0	0	0	4738	536	19	1	5039	1	DOPEY2	21	37620829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2993	37620829	10509066	19785	27497											
MORC3	23515	broad.mit.edu	37	chr21	37717329	37717329	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagttggatgtcagttaagGgtaagctttattttttattt	9	2	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37717329G>T	ENST00000400485.1	+	8	1081	c.1005G>T	c.(1003-1005)agG>agT	p.R335S	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	335					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GTCAGTTAAGGGTAAGCTTTA	0.284													False	0	True	21:37717329	0	T	37717329	G	T	37717329	5	4	88	1	0	0	0	0	0	0	1	0	9770	1246	43	3	1035	3	MORC3	21	37717329	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96500	37717329	10412566	19786	27498											
MORC3	23515	broad.mit.edu	37	chr21	37741529	37741529	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacagtgaaccttgtggccaGactggttcaacaagcacctc	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37741529G>A	ENST00000400485.1	+	15	1939	c.1863G>A	c.(1861-1863)caG>caA	p.Q621Q	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	621					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTTGTGGCCAGACTGGTTCAA	0.453													False	0	False	21:37741529	0	A	37741529	G	A	37741529	2	1	88	1	0	0	0	0	0	0	0	1	9770	933	33	2		2	MORC3	21	37741529	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24200	37741529	10388366	19787	27499											
CHAF1B	8208	broad.mit.edu	37	chr21	37763902	37763902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggagccggagcagatcGcttttcaggatgaggacgag	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37763902G>A	ENST00000314103.5	+	4	464	c.313G>A	c.(313-315)Gct>Act	p.A105T	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GGAGCAGATCGCTTTTCAGGA	0.517													False	0	False	21:37763902	0	A	37763902	G	A	37763902	3	1	88	1	0	0	0	0	1	0	0	0	3335	1087	38	1	323	1	CHAF1B	21	37763902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22373	37763902	10365993	19788	27500											
CHAF1B	8208	broad.mit.edu	37	chr21	37769717	37769717	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttttttttgtaggacaAaagatatcaatttttaatga	7	2	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37769717A>G	ENST00000314103.5	+	6	637	c.486A>G	c.(484-486)caA>caG	p.Q162Q	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TTGTAGGACAAAAGATATCAA	0.353													False	0	True	21:37769717	0	G	37769717	A	G	37769717	2	3	88	1	0	0	0	0	0	0	0	1	3335	11	1	4		4	CHAF1B	21	37769717	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5815	37769717	10360178	19789	27501											
CHAF1B	8208	broad.mit.edu	37	chr21	37781761	37781761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaggccagtggtggaaaCaggtatcctcagagcctcag	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37781761C>T	ENST00000314103.5	+	10	1068	c.917C>T	c.(916-918)aCa>aTa	p.T306I		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GTGGTGGAAACAGGTATCCTC	0.512													False	0	True	21:37781761	0	T	37781761	C	T	37781761	3	4	88	1	0	0	0	0	1	0	0	0	3335	478	17	2	951	2	CHAF1B	21	37781761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12044	37781761	10348134	19790	27502											
HLCS	3141	broad.mit.edu	37	chr21	38132072	38132072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgagtgttgagttaaccAgaactccgccgatcttcatg	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38132072A>G	ENST00000399120.1	-	10	2981	c.1751T>C	c.(1750-1752)cTg>cCg	p.L584P	HLCS_ENST00000336648.4_Missense_Mutation_p.L584P	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	584					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGAGTTAACCAGAACTCCGCC	0.348													False	0	False	21:38132072	0	G	38132072	A	G	38132072	3	3	88	1	0	0	0	0	1	0	0	0	7260	188	7	4	441	4	HLCS	21	38132072	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	350311	38132072	9997823	19791	27503											
HLCS	3141	broad.mit.edu	37	chr21	38139572	38139572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaagcccatttcctgcggtGtctgaaacatcagcctgccg	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38139572G>A	ENST00000399120.1	-	8	2696	c.1466C>T	c.(1465-1467)aCa>aTa	p.T489I	HLCS_ENST00000336648.4_Missense_Mutation_p.T489I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	489					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TTCCTGCGGTGTCTGAAACAT	0.542													False	0	False	21:38139572	0	A	38139572	G	A	38139572	3	1	88	1	0	0	0	0	1	0	0	0	7260	1377	48	2	734	2	HLCS	21	38139572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7500	38139572	9990323	19792	27504											
HLCS	3141	broad.mit.edu	37	chr21	38309528	38309528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcctctcctttgtttggGttcttcaccaagagcctttg	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38309528G>T	ENST00000399120.1	-	5	1447	c.217C>A	c.(217-219)Ccc>Acc	p.P73T	HLCS_ENST00000336648.4_Missense_Mutation_p.P73T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	73					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTTTGTTTGGGTTCTTCACCA	0.552													False	0	True	21:38309528	0	T	38309528	G	T	38309528	3	4	88	1	0	0	0	0	1	0	0	0	7260	1261	44	3	1995	3	HLCS	21	38309528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169956	38309528	9820367	19793	27505											
TTC3	7267	broad.mit.edu	37	chr21	38519880	38519880	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatattctaagatccagataTacataactgatccagacttt	5	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38519880T>C	ENST00000399017.2	+	22	4740	c.1993T>C	c.(1993-1995)Tac>Cac	p.Y665H	TTC3_ENST00000540756.1_Missense_Mutation_p.Y355H|TTC3_ENST00000354749.2_Missense_Mutation_p.Y665H|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.Y665H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	665					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GATCCAGATATACATAACTGA	0.368													False	0	False	21:38519880	0	C	38519880	T	C	38519880	3	2	88	1	0	0	0	0	1	0	0	0	16781	1406	49	4	2075	4	TTC3	21	38519880	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	210352	38519880	9610015	19794	27506											
TTC3	7267	broad.mit.edu	37	chr21	38537998	38537998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctcttgggatgccctcGttttgttgtgattgacaact	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38537998G>A	ENST00000399017.2	+	33	6229	c.3482G>A	c.(3481-3483)cGt>cAt	p.R1161H	TTC3_ENST00000354749.2_Missense_Mutation_p.R1161H|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.R1161H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1161					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GGATGCCCTCGTTTTGTTGTG	0.363													False	0	True	21:38537998	0	A	38537998	G	A	38537998	3	1	88	1	0	0	0	0	1	0	0	0	16781	1145	40	1	3608	1	TTC3	21	38537998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18118	38537998	9591897	19795	27507											
TTC3	7267	broad.mit.edu	37	chr21	38538444	38538444	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaaaccaacttattgggctCaatcccatttggtcacagga	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38538444C>A	ENST00000399017.2	+	33	6675	c.3928C>A	c.(3928-3930)Caa>Aaa	p.Q1310K	TTC3_ENST00000354749.2_Missense_Mutation_p.Q1310K|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.Q1310K	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1310					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTATTGGGCTCAATCCCATTT	0.453													False	0	False	21:38538444	0	A	38538444	C	A	38538444	3	1	88	1	0	0	0	0	1	0	0	0	16781	827	29	3	4054	3	TTC3	21	38538444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	446	38538444	9591451	19796	27508											
DYRK1A	1859	broad.mit.edu	37	chr21	38884724	38884724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattttctgctaatacaggtCctgcacattacatgactgaa	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38884724C>T	ENST00000339659.4	+	11	3625	c.2155C>T	c.(2155-2157)Cct>Tct	p.P719S	DYRK1A_ENST00000398960.2_Missense_Mutation_p.P728S|DYRK1A_ENST00000455387.2_Missense_Mutation_p.P500S|DYRK1A_ENST00000338785.3_3'UTR	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A						nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TAATACAGGTCCTGCACATTA	0.483													False	0	False	21:38884724	0	T	38884724	C	T	38884724	3	4	88	1	0	0	0	0	1	0	0	0	4884	855	30	2	2308	2	DYRK1A	21	38884724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	346280	38884724	9245171	19797	27509											
KCNJ6	3763	broad.mit.edu	37	chr21	38997550	38997550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcctcttcagtctccaGttctgcatgttggttgagtt	8	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38997550G>A	ENST00000609713.1	-	4	1772	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	KCNJ6_ENST00000288309.6_Silent_p.L395L	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCAGTCTCCAGTTCTGCATGT	0.502													False	0	False	21:38997550	0	A	38997550	G	A	38997550	2	1	88	1	0	0	0	0	0	0	0	1	8105	1020	36	2		2	KCNJ6	21	38997550	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112826	38997550	9132345	19798	27510											
KCNJ15	3772	broad.mit.edu	37	chr21	39671643	39671643	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcagttggtcatcacgAccttgattgagatcttcatc	8	10	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:39671643A>T	ENST00000328656.4	+	4	763	c.460A>T	c.(460-462)Acc>Tcc	p.T154S	KCNJ15_ENST00000398932.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398930.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398934.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398938.2_Missense_Mutation_p.T154S	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15						synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GGTCATCACGACCTTGATTGA	0.512													False	0	False	21:39671643	0	T	39671643	A	T	39671643	3	4	88	1	0	0	0	0	1	0	0	0	8099	275	10	5	462	5	KCNJ15	21	39671643	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	674093	39671643	8458252	19799	27511											
ETS2	2114	broad.mit.edu	37	chr21	40184962	40184962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacctttgatgggtccctGtttgctgtttttccttctct	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40184962G>A	ENST00000360214.3	+	4	568	c.108G>A	c.(106-108)ctG>ctA	p.L36L	ETS2_ENST00000360938.3_Silent_p.L36L	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	36					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				ATGGGTCCCTGTTTGCTGTTT	0.398													False	0	True	21:40184962	0	A	40184962	G	A	40184962	2	1	88	1	0	0	0	0	0	0	0	1	5308	1364	48	2		2	ETS2	21	40184962	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	513319	40184962	7944933	19800	27512											
ETS2	2114	broad.mit.edu	37	chr21	40186851	40186851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaacgctttctggagctgGcacctgactttgtgggtgac	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40186851G>A	ENST00000360214.3	+	6	911	c.451G>A	c.(451-453)Gca>Aca	p.A151T	ETS2_ENST00000360938.3_Missense_Mutation_p.A151T	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	151	PNT.				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCTGGAGCTGGCACCTGACTT	0.512													False	0	False	21:40186851	0	A	40186851	G	A	40186851	3	1	88	1	0	0	0	0	1	0	0	0	5308	1203	42	2	465	2	ETS2	21	40186851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1889	40186851	7943044	19801	27513											
ETS2	2114	broad.mit.edu	37	chr21	40191548	40191548	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcaacgggttccttccttCgagagcttcgaagatgactg	12	10	0	3	rs113417859	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40191548C>T	ENST00000360214.3	+	9	1393	c.933C>T	c.(931-933)ttC>ttT	p.F311F	ETS2_ENST00000360938.3_Silent_p.F311F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	311					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTCCTTCCTTCGAGAGCTTCG	0.552													False	0	True	21:40191548	0	T	40191548	C	T	40191548	2	4	88	1	0	0	0	0	0	0	0	1	5308	883	31	1		1	ETS2	21	40191548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4697	40191548	7938347	19802	27514											
ETS2	2114	broad.mit.edu	37	chr21	40191600	40191600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctcaataagccaaccAtgtctttcaaggattacatc	5	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40191600A>G	ENST00000360214.3	+	9	1445	c.985A>G	c.(985-987)Atg>Gtg	p.M329V	ETS2_ENST00000360938.3_Missense_Mutation_p.M329V	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	329					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TAAGCCAACCATGTCTTTCAA	0.537													False	0	False	21:40191600	0	G	40191600	A	G	40191600	3	3	88	1	0	0	0	0	1	0	0	0	5308	217	8	4	1011	4	ETS2	21	40191600	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52	40191600	7938295	19803	27515											
BRWD1	54014	broad.mit.edu	37	chr21	40559106	40559106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagccgcagcagaagcatttCgatggggcagttttctgcta	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40559106C>T	ENST00000333229.2	-	42	7136	c.6809G>A	c.(6808-6810)cGa>cAa	p.R2270Q		NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGAAGCATTTCGATGGGGCAG	0.338													False	0	True	21:40559106	0	T	40559106	C	T	40559106	3	4	88	1	0	0	0	0	1	0	0	0	1532	884	31	1	157	1	BRWD1	21	40559106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367506	40559106	7570789	19804	27516											
BRWD1	54014	broad.mit.edu	37	chr21	40604155	40604155	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagggttcagttcataaataTtatttcttcttacagcctca	5	8	5	0	rs145677980	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40604155T>G	ENST00000342449.3	-	25	3026	c.2948A>C	c.(2947-2949)aAt>aCt	p.N983T	BRWD1_ENST00000333229.2_Missense_Mutation_p.N983T|BRWD1_ENST00000380800.3_Missense_Mutation_p.N983T	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	983					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCATAAATATTATTTCTTCT	0.303													False	0	False	21:40604155	0	G	40604155	T	G	40604155	3	3	88	1	0	0	0	0	1	0	0	0	1532	1493	52	4	4325	4	BRWD1	21	40604155	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	45049	40604155	7525740	19805	27517											
BRWD1	54014	broad.mit.edu	37	chr21	40646333	40646333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccatatccaataaaatgCtcctccattctaactgctca	3	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40646333C>T	ENST00000342449.3	-	13	1289	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N	BRWD1_ENST00000333229.2_Missense_Mutation_p.S404N|BRWD1_ENST00000380800.3_Missense_Mutation_p.S404N	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAATAAAATGCTCCTCCATTC	0.413													False	0	False	21:40646333	0	T	40646333	C	T	40646333	3	4	88	1	0	0	0	0	1	0	0	0	1532	797	28	2	6110	2	BRWD1	21	40646333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42178	40646333	7483562	19806	27518											
IGSF5	150084	broad.mit.edu	37	chr21	41137582	41137582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcatcatgtgggctctcaGtgacatggtggtgctaagcg	14	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41137582G>A	ENST00000380588.4	+	3	324	c.221G>A	c.(220-222)aGt>aAt	p.S74N	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	74	Ig-like V-type 1.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TGGGCTCTCAGTGACATGGTG	0.587													False	0	False	21:41137582	0	A	41137582	G	A	41137582	3	1	88	1	0	0	0	0	1	0	0	0	7652	1029	36	2	231	2	IGSF5	21	41137582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491249	41137582	6992313	19807	27519											
DSCAM	1826	broad.mit.edu	37	chr21	41384987	41384987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgtaagattttgcgtAaggattgtttcctttcaaat	10	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41384987A>G	ENST00000400454.1	-	33	6490	c.6013T>C	c.(6013-6015)Tac>Cac	p.Y2005H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	2005				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATTTTGCGTAAGGATTGTTT	0.463													False	0	False	21:41384987	0	G	41384987	A	G	41384987	3	3	88	1	0	0	0	0	1	0	0	0	4798	362	13	4	29	4	DSCAM	21	41384987	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	247405	41384987	6744908	19808	27520											
DSCAM	1826	broad.mit.edu	37	chr21	41385243	41385243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctaagctcaggtccctGctggtgcctggaccacctcg	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41385243G>A	ENST00000400454.1	-	33	6234	c.5757C>T	c.(5755-5757)agC>agT	p.S1919S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1919				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAGGTCCCTGCTGGTGCCTG	0.542													False	0	False	21:41385243	0	A	41385243	G	A	41385243	2	1	88	1	0	0	0	0	0	0	0	1	4798	1310	46	2		2	DSCAM	21	41385243	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256	41385243	6744652	19809	27521											
DSCAM	1826	broad.mit.edu	37	chr21	41452251	41452251	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcactattgtcctcggaGtactgcagtatgtatcctgc	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41452251G>T	ENST00000400454.1	-	25	4725	c.4248C>A	c.(4246-4248)taC>taA	p.Y1416*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1416	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTCCTCGGAGTACTGCAGTA	0.453													False	0	False	21:41452251	0	T	41452251	G	T	41452251	4	4	88	1	0	0	0	0	0	1	0	0	4798	1024	36	3	1826	3	DSCAM	21	41452251	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67008	41452251	6677644	19810	27522											
DSCAM	1826	broad.mit.edu	37	chr21	41457658	41457658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctaaagatgctcctccGcccatcaatcgttactagac	7	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41457658G>A	ENST00000400454.1	-	23	4480	c.4003C>T	c.(4003-4005)Cgg>Tgg	p.R1335W		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1335	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGCTCCTCCGCCCATCAATC	0.458													False	0	True	21:41457658	0	A	41457658	G	A	41457658	3	1	88	1	0	0	0	0	1	0	0	0	4798	1086	38	1	2079	1	DSCAM	21	41457658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5407	41457658	6672237	19811	27523											
DSCAM	1826	broad.mit.edu	37	chr21	41710129	41710129	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccttttgcacatctgaaAgtttaagagttccattgttc	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41710129A>C	ENST00000400454.1	-	8	2159	c.1682T>G	c.(1681-1683)cTt>cGt	p.L561R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	561	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACATCTGAAAGTTTAAGAGT	0.473													False	0	True	21:41710129	0	C	41710129	A	C	41710129	3	2	88	1	0	0	0	0	1	0	0	0	4798	72	3	4	4460	4	DSCAM	21	41710129	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	252471	41710129	6419766	19812	27524											
DSCAM	1826	broad.mit.edu	37	chr21	41711061	41711061	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcacctcttacgtttattcGagcctggtacaggacgactc	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41711061G>A	ENST00000400454.1	-	7	1969	c.1492C>T	c.(1492-1494)Cga>Tga	p.R498*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	498	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACGTTTATTCGAGCCTGGTAC	0.527													False	0	False	21:41711061	0	A	41711061	G	A	41711061	4	1	88	1	0	0	0	0	0	1	0	0	4798	1066	37	1	4654	1	DSCAM	21	41711061	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	932	41711061	6418834	19813	27525											
DSCAM	1826	broad.mit.edu	37	chr21	41741044	41741044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgatacaaaaagtctggCgctgttgctctgcctcgtct	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41741044C>T	ENST00000400454.1	-	4	1114	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	213	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAAGTCTGGCGCTGTTGCTC	0.428													False	0	False	21:41741044	0	T	41741044	C	T	41741044	3	4	88	1	0	0	0	0	1	0	0	0	4798	768	27	1	5521	1	DSCAM	21	41741044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29983	41741044	6388851	19814	27526											
BACE2	25825	broad.mit.edu	37	chr21	42647386	42647386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccgctcagtctttgagCgagcccattttgtggattgt	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42647386C>T	ENST00000347667.5	+	8	1705	c.1242C>T	c.(1240-1242)agC>agT	p.S414S	BACE2_ENST00000330333.6_Silent_p.S464S|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_3'UTR	NM_138991.1	NP_620476.1	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGTCTTTGAGCGAGCCCATTT	0.547													False	0	True	21:42647386	0	T	42647386	C	T	42647386	2	4	88	1	0	0	0	0	0	0	0	1	1286	767	27	1		1	BACE2	21	42647386	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	906342	42647386	5482509	19815	27527											
MX2	4600	broad.mit.edu	37	chr21	42748845	42748845	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacagcacatgtctaaggcCcacaagccttggccctaccg	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42748845C>A	ENST00000330714.3	+	2	196	c.12C>A	c.(10-12)gcC>gcA	p.A4A	MX2_ENST00000543692.1_Silent_p.A4A	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	4					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TGTCTAAGGCCCACAAGCCTT	0.507													False	0	True	21:42748845	0	A	42748845	C	A	42748845	2	1	88	1	0	0	0	0	0	0	0	1	10065	610	22	3		3	MX2	21	42748845	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101459	42748845	5381050	19816	27528											
MX1	4599	broad.mit.edu	37	chr21	42830566	42830566	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcagctcctgcaggacaagGacacctacagctggctcctg	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42830566G>T	ENST00000398600.2	+	19	2895	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	MX1_ENST00000398598.3_Missense_Mutation_p.D624Y|MX1_ENST00000288383.6_Missense_Mutation_p.D601Y|MX1_ENST00000455164.2_Missense_Mutation_p.D624Y	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	624	GED.				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCAGGACAAGGACACCTACAG	0.617													False	0	True	21:42830566	0	T	42830566	G	T	42830566	3	4	88	1	0	0	0	0	1	0	0	0	10064	1174	41	3	1920	3	MX1	21	42830566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81721	42830566	5299329	19817	27529											
RIPK4	54101	broad.mit.edu	37	chr21	43161377	43161377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctccttgccagcgcccCgatgcaggagcagcctggca	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161377C>T	ENST00000352483.2	-	9	2184	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q	RIPK4_ENST00000542057.1_Missense_Mutation_p.R596Q|RIPK4_ENST00000544709.1_Missense_Mutation_p.R596Q|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.R659Q			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	659						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCAGCGCCCCGATGCAGGAG	0.672													False	0	True	21:43161377	0	T	43161377	C	T	43161377	3	4	88	1	0	0	0	0	1	0	0	0	13462	652	23	1	382	1	RIPK4	21	43161377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	330811	43161377	4968518	19818	27530											
RIPK4	54101	broad.mit.edu	37	chr21	43161678	43161678	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctcacgtccacgcctcGgcgcagcaggatgcgcacga	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161678G>A	ENST00000352483.2	-	9	1883	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R496*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R496*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R559*			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	559						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.R559*(1)|p.R607*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCACGCCTCGGCGCAGCAGG	0.662													False	0	False	21:43161678	0	A	43161678	G	A	43161678	4	1	88	1	0	0	0	0	0	1	0	0	13462	1124	39	1	683	1	RIPK4	21	43161678	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	301	43161678	4968217	19819	27531											
RIPK4	54101	broad.mit.edu	37	chr21	43161895	43161895	+	Silent	SNP	G	G	A													cgcgccagcaggagctccacGacaccccgcaccctcctctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161895G>A	ENST00000352483.2	-	9	1666	c.1602C>T	c.(1600-1602)gtC>gtT	p.V534V	RIPK4_ENST00000542057.1_Silent_p.V423V|RIPK4_ENST00000544709.1_Silent_p.V423V|RIPK4_ENST00000332512.3_Silent_p.V486V			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	486						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGAGCTCCACGACACCCCGCA	0.632													False	0	False	21:43161895	0	A	43161895	G	A	43161895	2	1	88	1	0	0	0	0	0	0	0	1	13462	1045	37	1		1	RIPK4	21	43161895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217	43161895	4968000	19820	27532	287	2									
RIPK4	54101	broad.mit.edu	37	chr21	43161903	43161903	+	Missense_Mutation	SNP	G	G	A													caggagctccacgacaccccGcaccctcctctccacggcca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161903G>A	ENST00000352483.2	-	9	1658	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	RIPK4_ENST00000542057.1_Missense_Mutation_p.R421W|RIPK4_ENST00000544709.1_Missense_Mutation_p.R421W|RIPK4_ENST00000332512.3_Missense_Mutation_p.R484W			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	484						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACGACACCCCGCACCCTCCTC	0.632													False	0	True	21:43161903	0	A	43161903	G	A	43161903	3	1	88	1	0	0	0	0	1	0	0	0	13462	1086	38	1	908	1	RIPK4	21	43161903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	43161903	4967992	19821	27533	287	2									
RIPK4	54101	broad.mit.edu	37	chr21	43171324	43171324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctctggagggaggtaggCgattgtgccaaacaggccat	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43171324C>T	ENST00000352483.2	-	3	620	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	RIPK4_ENST00000542057.1_Missense_Mutation_p.A123T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A123T|RIPK4_ENST00000332512.3_Missense_Mutation_p.A186T			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	186						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGGAGGTAGGCGATTGTGCCA	0.577													False	0	False	21:43171324	0	T	43171324	C	T	43171324	3	4	88	1	0	0	0	0	1	0	0	0	13462	768	27	1	1822	1	RIPK4	21	43171324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9421	43171324	4958571	19822	27534											
PRDM15	63977	broad.mit.edu	37	chr21	43236126	43236126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcggtggcactccttgCactcgtactccttgatgccc	9	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43236126C>T	ENST00000422911.1	-	20	2599	c.2498G>A	c.(2497-2499)tGc>tAc	p.C833Y	PRDM15_ENST00000398548.1_Missense_Mutation_p.C813Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.C776Y|PRDM15_ENST00000269844.3_Missense_Mutation_p.C1142Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.C796Y	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCACTCCTTGCACTCGTACTC	0.642													False	0	False	21:43236126	0	T	43236126	C	T	43236126	3	4	88	1	0	0	0	0	1	0	0	0	12532	710	25	2	1122	2	PRDM15	21	43236126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64802	43236126	4893769	19823	27535											
PRDM15	63977	broad.mit.edu	37	chr21	43274842	43274842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttctggtgctcggcctccGccgctggccgcaccagcatc	13	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43274842G>A	ENST00000422911.1	-	5	583	c.482C>T	c.(481-483)gCg>gTg	p.A161V	PRDM15_ENST00000398548.1_Missense_Mutation_p.A161V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A124V|PRDM15_ENST00000269844.3_Missense_Mutation_p.A490V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A124V	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTCGGCCTCCGCCGCTGGCCG	0.647													False	0	False	21:43274842	0	A	43274842	G	A	43274842	3	1	88	1	0	0	0	0	1	0	0	0	12532	1087	38	1	3134	1	PRDM15	21	43274842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38716	43274842	4855053	19824	27536											
C2CD2	25966	broad.mit.edu	37	chr21	43319445	43319445	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagccctgcatcagggcAgcgtcgtggtcctgagatag	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43319445A>G	ENST00000380486.3	-	13	1828	c.1587T>C	c.(1585-1587)gcT>gcC	p.A529A	C2CD2_ENST00000329623.7_Silent_p.A374A	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	529						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GCATCAGGGCAGCGTCGTGGT	0.602													False	0	False	21:43319445	0	G	43319445	A	G	43319445	2	3	88	1	0	0	0	0	0	0	0	1	2168	175	7	4		4	C2CD2	21	43319445	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44603	43319445	4810450	19825	27537											
C2CD2	25966	broad.mit.edu	37	chr21	43329596	43329596	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatcgcccagcctctgaaatCtgcaggtgtaactccttcga	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43329596C>T	ENST00000380486.3	-	8	1231	c.990G>A	c.(988-990)caG>caA	p.Q330Q	C2CD2_ENST00000329623.7_Silent_p.Q175Q	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	330	C2.					cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CCTCTGAAATCTGCAGGTGTA	0.493													False	0	False	21:43329596	0	T	43329596	C	T	43329596	2	4	88	1	0	0	0	0	0	0	0	1	2168	912	32	2		2	C2CD2	21	43329596	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10151	43329596	4800299	19826	27538											
UMODL1	89766	broad.mit.edu	37	chr21	43504288	43504288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagcttggacatcgaCtgtcctggacttgagaagtg	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43504288C>T	ENST00000400424.2	+	3	594	c.198C>T	c.(196-198)gaC>gaT	p.D66D	UMODL1_ENST00000400427.1_Silent_p.D66D|UMODL1_ENST00000408910.2_Silent_p.D138D|UMODL1_ENST00000408989.2_Silent_p.D138D	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGACATCGACTGTCCTGGAC	0.652													False	0	False	21:43504288	0	T	43504288	C	T	43504288	2	4	88	1	0	0	0	0	0	0	0	1	17064	564	20	2		2	UMODL1	21	43504288	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174692	43504288	4625607	19827	27539											
UMODL1	89766	broad.mit.edu	37	chr21	43508515	43508515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctgccacggccactgCctgtggctgacgtctccacc	12	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43508515C>T	ENST00000400424.2	+	5	895	c.499C>T	c.(499-501)Cct>Tct	p.P167S	UMODL1_ENST00000400427.1_Missense_Mutation_p.P167S|UMODL1_ENST00000408910.2_Missense_Mutation_p.P239S|UMODL1_ENST00000408989.2_Missense_Mutation_p.P239S	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1							cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACGGCCACTGCCTGTGGCTGA	0.632													False	0	False	21:43508515	0	T	43508515	C	T	43508515	3	4	88	1	0	0	0	0	1	0	0	0	17064	739	26	2	733	2	UMODL1	21	43508515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4227	43508515	4621380	19828	27540											
UMODL1	89766	broad.mit.edu	37	chr21	43547924	43547924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtctgcatggaatcccccGgagccacgtgcaaaatcgta	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43547924G>A	ENST00000400424.2	+	20	3853	c.3457G>A	c.(3457-3459)Gga>Aga	p.G1153R	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.G1281R|UMODL1_ENST00000408910.2_Missense_Mutation_p.G1225R|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1353R	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGAATCCCCCGGAGCCACGTG	0.453													False	0	True	21:43547924	0	A	43547924	G	A	43547924	3	1	88	1	0	0	0	0	1	0	0	0	17064	1117	39	1	4131	1	UMODL1	21	43547924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39409	43547924	4581971	19829	27541											
ABCG1	9619	broad.mit.edu	37	chr21	43706095	43706095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccaacctaccacaacccaGcagattttggtaagcggagt	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43706095G>T	ENST00000398437.1	+	9	1550	c.1402G>T	c.(1402-1404)Gca>Tca	p.A468S	ABCG1_ENST00000398457.2_Missense_Mutation_p.A324S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.A322S|ABCG1_ENST00000361802.2_Missense_Mutation_p.A322S|ABCG1_ENST00000340588.4_Missense_Mutation_p.A430S|ABCG1_ENST00000347800.2_Missense_Mutation_p.A319S|ABCG1_ENST00000343687.3_Missense_Mutation_p.A333S			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	322	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCACAACCCAGCAGATTTTGG	0.522													False	0	False	21:43706095	0	T	43706095	G	T	43706095	3	4	88	1	0	0	0	0	1	0	0	0	68	971	34	3	1162	3	ABCG1	21	43706095	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158171	43706095	4423800	19830	27542											
ABCG1	9619	broad.mit.edu	37	chr21	43708092	43708092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactcagaccacaagagagAcctcgggggtgatgccgagg	15	10	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43708092A>G	ENST00000398437.1	+	10	1653	c.1505A>G	c.(1504-1506)gAc>gGc	p.D502G	ABCG1_ENST00000398457.2_Missense_Mutation_p.D358G|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.D356G|ABCG1_ENST00000361802.2_Missense_Mutation_p.D356G|ABCG1_ENST00000340588.4_Missense_Mutation_p.D464G|ABCG1_ENST00000347800.2_Missense_Mutation_p.D353G|ABCG1_ENST00000343687.3_Missense_Mutation_p.D367G			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	356	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CACAAGAGAGACCTCGGGGGT	0.547													False	0	True	21:43708092	0	G	43708092	A	G	43708092	3	3	88	1	0	0	0	0	1	0	0	0	68	275	10	4	1269	4	ABCG1	21	43708092	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1997	43708092	4421803	19831	27543											
ABCG1	9619	broad.mit.edu	37	chr21	43716283	43716283	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcctcctaggtatgggttCgaaggggtcatcctctccat	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43716283C>T	ENST00000398437.1	+	16	2404	c.2256C>T	c.(2254-2256)ttC>ttT	p.F752F	ABCG1_ENST00000398457.2_Silent_p.F596F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Silent_p.F594F|ABCG1_ENST00000361802.2_Silent_p.F606F|ABCG1_ENST00000340588.4_Silent_p.F714F|ABCG1_ENST00000347800.2_Silent_p.F591F|ABCG1_ENST00000343687.3_Silent_p.F605F			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	606					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.F596F(2)|p.F606F(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GGTATGGGTTCGAAGGGGTCA	0.587													False	0	False	21:43716283	0	T	43716283	C	T	43716283	2	4	88	1	0	0	0	0	0	0	0	1	68	883	31	1		1	ABCG1	21	43716283	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8191	43716283	4413612	19832	27544											
TFF1	7031	broad.mit.edu	37	chr21	43783485	43783485	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaccaggaaaaccacaattCtgtctttcacggggggccac	9	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43783485C>T	ENST00000291527.2	-	2	215	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	39	P-type.				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						AACCACAATTCTGTCTTTCAC	0.507													False	0	False	21:43783485	0	T	43783485	C	T	43783485	2	4	88	1	0	0	0	0	0	0	0	1	15885	912	32	2		2	TFF1	21	43783485	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67202	43783485	4346410	19833	27545											
TMPRSS3	64699	broad.mit.edu	37	chr21	43796726	43796726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgccaccgtacacgtccCtgtggttgcagatcttgttg	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43796726C>A	ENST00000291532.3	-	11	2073	c.1118G>T	c.(1117-1119)aGg>aTg	p.R373M	TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R457M|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R372M|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R370M	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	373	Peptidase S1.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GTACACGTCCCTGTGGTTGCA	0.627													False	0	True	21:43796726	0	A	43796726	C	A	43796726	3	1	88	1	0	0	0	0	1	0	0	0	16330	681	24	3	258	3	TMPRSS3	21	43796726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13241	43796726	4333169	19834	27546											
TMPRSS3	64699	broad.mit.edu	37	chr21	43815520	43815520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacagcaggcggatcattttCccccatggtgactatttcag	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43815520C>T	ENST00000291532.3	-	2	962	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	TMPRSS3_ENST00000398397.3_Missense_Mutation_p.E3K|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E87K|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E3K|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.E3K	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	3					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGATCATTTTCCCCCATGGTG	0.493													False	0	True	21:43815520	0	T	43815520	C	T	43815520	3	4	88	1	0	0	0	0	1	0	0	0	16330	864	30	2	1488	2	TMPRSS3	21	43815520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18794	43815520	4314375	19835	27547											
UBASH3A	53347	broad.mit.edu	37	chr21	43846890	43846890	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcggggaatttcttccAcaaacggcaaggagtcttag	12	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43846890A>G	ENST00000319294.6	+	8	1162	c.1131A>G	c.(1129-1131)ccA>ccG	p.P377P	UBASH3A_ENST00000291535.6_Silent_p.P339P|UBASH3A_ENST00000398367.1_Silent_p.P339P	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	377						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AATTTCTTCCACAAACGGCAA	0.448													False	0	False	21:43846890	0	G	43846890	A	G	43846890	2	3	88	1	0	0	0	0	0	0	0	1	16923	146	6	4		4	UBASH3A	21	43846890	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31370	43846890	4283005	19836	27548											
PDE9A	5152	broad.mit.edu	37	chr21	44119111	44119111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgagacctgtggccatcaaGcaactctccggtaaggccct	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44119111G>T	ENST00000291539.6	+	4	312	c.252G>T	c.(250-252)aaG>aaT	p.K84N	PDE9A_ENST00000398225.3_Missense_Mutation_p.K43N|PDE9A_ENST00000335512.4_Missense_Mutation_p.K84N|PDE9A_ENST00000328862.6_Missense_Mutation_p.K58N|PDE9A_ENST00000398224.3_Missense_Mutation_p.K17N|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000335440.6_Missense_Mutation_p.A61S|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398236.3_Missense_Mutation_p.K58N|PDE9A_ENST00000380328.2_Missense_Mutation_p.A110S|PDE9A_ENST00000398232.3_Missense_Mutation_p.K17N|PDE9A_ENST00000349112.3_Missense_Mutation_p.A35S|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398234.3_Missense_Mutation_p.K43N|PDE9A_ENST00000398229.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	84					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TGGCCATCAAGCAACTCTCCG	0.468													False	0	False	21:44119111	0	T	44119111	G	T	44119111	3	4	88	1	0	0	0	0	1	0	0	0	11723	971	34	3	346	3	PDE9A	21	44119111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	272221	44119111	4010784	19837	27549											
WDR4	10785	broad.mit.edu	37	chr21	44272427	44272427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttaacacggtgctctcaGgaacagactgcaggcgacaa	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44272427G>A	ENST00000398208.2	-	10	1042	c.983C>T	c.(982-984)cCt>cTt	p.P328L	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.P328L	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	328					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		GGTGCTCTCAGGAACAGACTG	0.567													False	0	False	21:44272427	0	A	44272427	G	A	44272427	3	1	88	1	0	0	0	0	1	0	0	0	17377	1000	35	2	263	2	WDR4	21	44272427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153316	44272427	3857468	19838	27550											
NDUFV3	4731	broad.mit.edu	37	chr21	44324264	44324264	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataccaccaagcaatttggAgacagttcctgttgagaata	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44324264A>G	ENST00000354250.2	+	3	1211	c.1142A>G	c.(1141-1143)gAg>gGg	p.E381G	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.4_Intron	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AGCAATTTGGAGACAGTTCCT	0.562													False	0	False	21:44324264	0	G	44324264	A	G	44324264	3	3	88	1	0	0	0	0	1	0	0	0	10369	304	11	4	1152	4	NDUFV3	21	44324264	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51837	44324264	3805631	19839	27551											
PKNOX1	5316	broad.mit.edu	37	chr21	44433326	44433326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggagagcctggaagccCgtactcaccagtgcagtccc	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44433326C>T	ENST00000291547.5	+	5	711	c.500C>T	c.(499-501)cCg>cTg	p.P167L	PKNOX1_ENST00000432907.2_Missense_Mutation_p.P50L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	167							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CCTGGAAGCCCGTACTCACCA	0.473													False	0	True	21:44433326	0	T	44433326	C	T	44433326	3	4	88	1	0	0	0	0	1	0	0	0	12051	652	23	1	514	1	PKNOX1	21	44433326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109062	44433326	3696569	19840	27552											
CBS	875	broad.mit.edu	37	chr21	44486459	44486459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggtccttcacgctcccGcccgcgttgaagaactcaca	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44486459G>A	ENST00000398165.3	-	5	604	c.345C>T	c.(343-345)ggC>ggT	p.G115G	CBS_ENST00000398158.1_Silent_p.G115G|CBS_ENST00000359624.3_Silent_p.G115G|CBS_ENST00000352178.5_Silent_p.G115G|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000544202.1_Silent_p.G27G|CBS_ENST00000398168.1_Silent_p.G115G	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	115					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TCACGCTCCCGCCCGCGTTGA	0.627													False	0	True	21:44486459	0	A	44486459	G	A	44486459	2	1	88	1	0	0	0	0	0	0	0	1	2731	1074	38	1		1	CBS	21	44486459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53133	44486459	3643436	19841	27553											
CRYAA	1409	broad.mit.edu	37	chr21	44589368	44589368	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactaccgccagtccctcttCcgcaccgtgctggactccgg	9	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44589368C>T	ENST00000291554.2	+	1	251	c.159C>T	c.(157-159)ttC>ttT	p.F53F	CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	53					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGTCCCTCTTCCGCACCGTGC	0.637													False	0	False	21:44589368	0	T	44589368	C	T	44589368	2	4	88	1	0	0	0	0	0	0	0	1	3928	854	30	2		2	CRYAA	21	44589368	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102909	44589368	3540527	19842	27554											
SIK1	150094	broad.mit.edu	37	chr21	44839359	44839359	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaccttcctgaggcacCtggggccggcagacgggaaa	15	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44839359C>A	ENST00000270162.6	-	10	1252		c.e10-1			NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1						anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCTGAGGCACCTGGGGCCGGC	0.627													False	0	False	21:44839359	0	A	44839359	C	A	44839359	5	1	88	1	0	0	0	0	0	0	1	0	14398	695	24	3	1252	3	SIK1	21	44839359	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249991	44839359	3290536	19843	27555											
HSF2BP	11077	broad.mit.edu	37	chr21	45064180	45064180	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcatggtaccttcttctctCttatgttgtcggcctgcacg	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45064180C>T	ENST00000291560.2	-	4	612	c.281G>A	c.(280-282)aGa>aAa	p.R94K	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R19K	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	94					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CTTCTTCTCTCTTATGTTGTC	0.483													False	0	True	21:45064180	0	T	45064180	C	T	45064180	3	4	88	1	0	0	0	0	1	0	0	0	7444	913	32	2	747	2	HSF2BP	21	45064180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224821	45064180	3065715	19844	27556											
HSF2BP	11077	broad.mit.edu	37	chr21	45064210	45064210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcctgcacggtttccaggCgggctttaaagtgctcacaa	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45064210C>T	ENST00000291560.2	-	4	582	c.251G>A	c.(250-252)cGc>cAc	p.R84H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R9H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	84					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GGTTTCCAGGCGGGCTTTAAA	0.458													False	0	True	21:45064210	0	T	45064210	C	T	45064210	3	4	88	1	0	0	0	0	1	0	0	0	7444	768	27	1	777	1	HSF2BP	21	45064210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	45064210	3065685	19845	27557											
PDXK	8566	broad.mit.edu	37	chr21	45152453	45152453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattatctacacacccagaaGcagtggagcagaatattttg	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45152453G>A	ENST00000327574.4	+	2	545	c.195G>A	c.(193-195)aaG>aaA	p.K65K	PDXK_ENST00000291565.4_Intron|PDXK_ENST00000476313.1_Intron|PDXK_ENST00000398081.1_Intron|PDXK_ENST00000468090.1_Intron			O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	0					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	ACACCCAGAAGCAGTGGAGCA	0.398													False	0	False	21:45152453	0	A	45152453	G	A	45152453	2	1	88	1	0	0	0	0	0	0	0	1	11765	986	34	2		2	PDXK	21	45152453	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88243	45152453	2977442	19846	27558											
PDXK	8566	broad.mit.edu	37	chr21	45173522	45173522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggacattcgcaaagtggaCgccgtctttgtgggcactgg	14	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45173522C>T	ENST00000291565.4	+	9	864	c.681C>T	c.(679-681)gaC>gaT	p.D227D	PDXK_ENST00000467908.1_Silent_p.D187D|PDXK_ENST00000468090.1_Silent_p.D199D	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	227					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GCAAAGTGGACGCCGTCTTTG	0.607													False	0	False	21:45173522	0	T	45173522	C	T	45173522	2	4	88	1	0	0	0	0	0	0	0	1	11765	535	19	1		1	PDXK	21	45173522	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21069	45173522	2956373	19847	27559											
PDXK	8566	broad.mit.edu	37	chr21	45175635	45175635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgcagaggaccatccaGtgtgcaaaaggtacggcggc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45175635G>A	ENST00000291565.4	+	10	999	c.816G>A	c.(814-816)caG>caA	p.Q272Q	PDXK_ENST00000467908.1_Silent_p.Q232Q|PDXK_ENST00000468090.1_Silent_p.Q244Q	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	272					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GGACCATCCAGTGTGCAAAAG	0.622													False	0	False	21:45175635	0	A	45175635	G	A	45175635	2	1	88	1	0	0	0	0	0	0	0	1	11765	1020	36	2		2	PDXK	21	45175635	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2113	45175635	2954260	19848	27560											
AGPAT3	56894	broad.mit.edu	37	chr21	45379592	45379592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggccttcctgaagacccaGttcgtgctgcacctgctggt	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45379592G>T	ENST00000398063.2	+	2	522	c.30G>T	c.(28-30)caG>caT	p.Q10H	AGPAT3_ENST00000546158.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000291572.8_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398058.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000327505.2_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398061.1_Missense_Mutation_p.Q10H	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	10					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TGAAGACCCAGTTCGTGCTGC	0.642													False	0	False	21:45379592	0	T	45379592	G	T	45379592	3	4	88	1	0	0	0	0	1	0	0	0	388	1020	36	3	32	3	AGPAT3	21	45379592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203957	45379592	2750303	19849	27561											
AGPAT3	56894	broad.mit.edu	37	chr21	45402199	45402199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaagcttcctttggagttCgcagactgataggagtaact	11	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45402199C>T	ENST00000398063.2	+	9	1549	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	AGPAT3_ENST00000546158.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R353C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R353C|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R353C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	353					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.R353C(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CTTTGGAGTTCGCAGACTGAT	0.448													False	0	False	21:45402199	0	T	45402199	C	T	45402199	3	4	88	1	0	0	0	0	1	0	0	0	388	884	31	1	1087	1	AGPAT3	21	45402199	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22607	45402199	2727696	19850	27562											
TRAPPC10	7109	broad.mit.edu	37	chr21	45483547	45483547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaccctgttagatctgCgcagttacctgttctctcgc	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45483547C>T	ENST00000291574.4	+	7	1094	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	307					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.R307C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTTAGATCTGCGCAGTTACCT	0.587													False	0	False	21:45483547	0	T	45483547	C	T	45483547	3	4	88	1	0	0	0	0	1	0	0	0	16540	768	27	1	945	1	TRAPPC10	21	45483547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81348	45483547	2646348	19851	27563											
TRAPPC10	7109	broad.mit.edu	37	chr21	45507691	45507691	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttgaactggaagttctctCtttaccttcagccccagcac	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45507691C>T	ENST00000291574.4	+	17	2826	c.2651C>T	c.(2650-2652)tCt>tTt	p.S884F		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	884					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GAAGTTCTCTCTTTACCTTCA	0.577													False	0	True	21:45507691	0	T	45507691	C	T	45507691	3	4	88	1	0	0	0	0	1	0	0	0	16540	913	32	2	2717	2	TRAPPC10	21	45507691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24144	45507691	2622204	19852	27564											
TRAPPC10	7109	broad.mit.edu	37	chr21	45522699	45522699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagtgtgtgggaaaagCtgcggtgtcatctccatgcc	15	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45522699C>A	ENST00000291574.4	+	22	3562	c.3387C>A	c.(3385-3387)agC>agA	p.S1129R		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1129					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTGGGAAAAGCTGCGGTGTCA	0.592													False	0	False	21:45522699	0	A	45522699	C	A	45522699	3	1	88	1	0	0	0	0	1	0	0	0	16540	796	28	3	3473	3	TRAPPC10	21	45522699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15008	45522699	2607196	19853	27565											
PWP2	5822	broad.mit.edu	37	chr21	45533719	45533719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccgcctcgctatcatcGtcgatgaaggtacttgccct	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45533719G>A	ENST00000291576.7	+	3	344	c.217G>A	c.(217-219)Gtc>Atc	p.V73I		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	73						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CGCTATCATCGTCGATGAAGG	0.587													False	0	False	21:45533719	0	A	45533719	G	A	45533719	3	1	88	1	0	0	0	0	1	0	0	0	12923	1145	40	1	227	1	PWP2	21	45533719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11020	45533719	2596176	19854	27566											
ICOSLG	23308	broad.mit.edu	37	chr21	45657062	45657062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgcagctgagctccacgtCgctgcctaccatcgctctga	10	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45657062C>T	ENST00000407780.3	-	3	221	c.94G>A	c.(94-96)Gac>Aac	p.D32N	ICOSLG_ENST00000400379.3_Missense_Mutation_p.D32N|ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000344330.4_Missense_Mutation_p.D32N	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	32	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		AGCTCCACGTCGCTGCCTACC	0.498													False	0	False	21:45657062	0	T	45657062	C	T	45657062	3	4	88	1	0	0	0	0	1	0	0	0	7537	884	31	1	834	1	ICOSLG	21	45657062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123343	45657062	2472833	19855	27567											
DNMT3L	29947	broad.mit.edu	37	chr21	45666402	45666402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagctctgcttgttctgggCcagcagggacaattcttctt	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45666402C>T	ENST00000270172.3	-	12	1525	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	DNMT3L_ENST00000418993.1_Missense_Mutation_p.A347T	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	347					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTGTTCTGGGCCAGCAGGGAC	0.567													False	0	True	21:45666402	0	T	45666402	C	T	45666402	3	4	88	1	0	0	0	0	1	0	0	0	4708	739	26	2	125	2	DNMT3L	21	45666402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9340	45666402	2463493	19856	27568											
DNMT3L	29947	broad.mit.edu	37	chr21	45678505	45678505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcacaggtagcacacccaGttgctcatggcgtgcacctt	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45678505G>T	ENST00000270172.3	-	6	900	c.417C>A	c.(415-417)aaC>aaA	p.N139K	DNMT3L_ENST00000418993.1_Missense_Mutation_p.N139K	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	139	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AGCACACCCAGTTGCTCATGG	0.637													False	0	False	21:45678505	0	T	45678505	G	T	45678505	3	4	88	1	0	0	0	0	1	0	0	0	4708	1020	36	3	774	3	DNMT3L	21	45678505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12103	45678505	2451390	19857	27569											
AIRE	326	broad.mit.edu	37	chr21	45713016	45713016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagggctggactcctcGgccctgcaccccctactgtg	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45713016G>A	ENST00000329347.4	+	5	533	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	AIRE_ENST00000291582.5_Silent_p.S412S|AIRE_ENST00000355347.4_Silent_p.S205S			O43918	AIRE_HUMAN	autoimmune regulator	144					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TGGACTCCTCGGCCCTGCACC	0.682									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				False	0	False	21:45713016	0	A	45713016	G	A	45713016	3	1	88	1	0	0	0	0	1	0	0	0	437	1103	39	1	1562	1	AIRE	21	45713016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34511	45713016	2416879	19858	27570											
AIRE	326	broad.mit.edu	37	chr21	45713671	45713671	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgcgctgttgcctcccacaGaacctggctcctggtgcgcg	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45713671G>T	ENST00000291582.5	+	11	1405		c.e11-1		AIRE_ENST00000329347.4_Splice_Site|AIRE_ENST00000355347.4_Splice_Site	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator						positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GCCTCCCACAGAACCTGGCTC	0.692									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				False	0	False	21:45713671	0	T	45713671	G	T	45713671	5	4	88	1	0	0	0	0	0	0	1	0	437	956	33	3	1608	3	AIRE	21	45713671	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	655	45713671	2416224	19859	27571											
PFKL	5211	broad.mit.edu	37	chr21	45744399	45744399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgcatcaaacagtctgCctcggggaccaagcgccgtg	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45744399C>T	ENST00000403390.1	+	18	1817	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	PFKL_ENST00000349048.4_Missense_Mutation_p.A559V			P17858	K6PL_HUMAN	phosphofructokinase, liver	559					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		AAACAGTCTGCCTCGGGGACC	0.672													False	0	False	21:45744399	0	T	45744399	C	T	45744399	3	4	88	1	0	0	0	0	1	0	0	0	11833	739	26	2	1742	2	PFKL	21	45744399	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30728	45744399	2385496	19860	27572											
TRPM2	7226	broad.mit.edu	37	chr21	45789167	45789167	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaaggcgagctcatcAccatcggagtcgccacctgg	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45789167A>G	ENST00000397928.1	+	5	1157	c.712A>G	c.(712-714)Acc>Gcc	p.T238A	TRPM2_ENST00000300481.9_Missense_Mutation_p.T238A|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.T238A|TRPM2_ENST00000300482.5_Missense_Mutation_p.T238A	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	238						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGAGCTCATCACCATCGGAGT	0.667													False	0	False	21:45789167	0	G	45789167	A	G	45789167	3	3	88	1	0	0	0	0	1	0	0	0	16669	159	6	4	730	4	TRPM2	21	45789167	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44768	45789167	2340728	19861	27573											
TRPM2	7226	broad.mit.edu	37	chr21	45837893	45837893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgaggagtaccacggccGccccgccgcgccgcccccct	12	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45837893G>A	ENST00000397928.1	+	21	3675	c.3230G>A	c.(3229-3231)cGc>cAc	p.R1077H	AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1057H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1077H|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1077H	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1077						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TACCAcggccgccccgccgcg	0.617													False	0	True	21:45837893	0	A	45837893	G	A	45837893	3	1	88	1	0	0	0	0	1	0	0	0	16669	1087	38	1	3312	1	TRPM2	21	45837893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48726	45837893	2292002	19862	27574											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959281	45959281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaggaggcaggggcacaGcaggaggagacaggcataca	18	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45959281G>A	ENST00000400375.1	-	1	797	c.753C>T	c.(751-753)tgC>tgT	p.C251C	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	251	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CAGGGGCACAGCAGGAGGAGA	0.731													False	0	False	21:45959281	0	A	45959281	G	A	45959281	2	1	88	1	0	0	0	0	0	0	0	1	8555	963	34	2		2	KRTAP10-1	21	45959281	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121388	45959281	2170614	19863	27575											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45977936	45977936	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaacgggacctgcccgtcaGcagctggacttctggcctga	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45977936G>T	ENST00000391620.1	-	1	707	c.663C>A	c.(661-663)tgC>tgA	p.C221*	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	221						keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CTGCCCGTCAGCAGCTGGACT	0.652													False	0	False	21:45977936	0	T	45977936	G	T	45977936	4	4	88	1	0	0	0	0	0	1	0	0	8560	963	34	3	6	3	KRTAP10-3	21	45977936	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18655	45977936	2151959	19864	27576											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45993726	45993726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgactcctggcaggtggacGactgcccagagagctgctgc	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45993726G>A	ENST00000400374.3	+	1	121	c.91G>A	c.(91-93)Gac>Aac	p.D31N	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	31						keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCAGGTGGACGACTGCCCAGA	0.682													False	0	False	21:45993726	0	A	45993726	G	A	45993726	3	1	88	1	0	0	0	0	1	0	0	0	8561	1058	37	1	93	1	KRTAP10-4	21	45993726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15790	45993726	2136169	19865	27577											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032698	46032698	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtgtgcctgtcccctcCtgttgtgtccctgcctcctc	9	17	0	0	rs149614965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46032698C>A	ENST00000334662.2	+	1	703	c.681C>A	c.(679-681)tcC>tcA	p.S227S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	227	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ctgtcccctcctgttgtgtcc	0.711													False	0	False	21:46032698	0	A	46032698	C	A	46032698	2	1	88	1	0	0	0	0	0	0	0	1	8565	668	24	3		3	KRTAP10-8	21	46032698	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38972	46032698	2097197	19866	27578											
KRTAP12-2	353323	broad.mit.edu	37	chr21	46086509	46086509	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacagggaggactggcaggAgggggctgcacacacaatgg	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46086509A>T	ENST00000360770.3	-	1	335	c.295T>A	c.(295-297)Tcc>Acc	p.S99T	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	99	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						GACTGGCAGGAGGGGGCTGCA	0.642													False	0	True	21:46086509	0	T	46086509	A	T	46086509	3	4	88	1	0	0	0	0	1	0	0	0	8569	304	11	5	149	5	KRTAP12-2	21	46086509	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53811	46086509	2043386	19867	27579											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117425	46117425	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctccccctgccagcaggcCtgctgcgtgcccgtctgctg	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46117425C>A	ENST00000400365.3	+	1	339	c.309C>A	c.(307-309)gcC>gcA	p.A103A	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	103	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.A103A(1)		large_intestine(1)|lung(8)	9						GCCAGCAGGCCTGCTGCGTGC	0.647													False	0	False	21:46117425	0	A	46117425	C	A	46117425	2	1	88	1	0	0	0	0	0	0	0	1	8558	668	24	3		3	KRTAP10-12	21	46117425	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30916	46117425	2012470	19868	27580											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117739	46117739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcagacccgcccgccGcgtgcccgtcccctcctgct	11	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46117739G>A	ENST00000400365.3	+	1	653	c.623G>A	c.(622-624)cGc>cAc	p.R208H	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	208	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CCCGCCCGCCGCGTGCCCGTC	0.711													False	0	True	21:46117739	0	A	46117739	G	A	46117739	3	1	88	1	0	0	0	0	1	0	0	0	8558	1087	38	1	625	1	KRTAP10-12	21	46117739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	314	46117739	2012156	19869	27581											
ITGB2	3689	broad.mit.edu	37	chr21	46320235	46320235	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcctggggtggggacttacGaattcgttgctcctcttgta	13	9	1	0	rs150327269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46320235G>A	ENST00000397850.2	-	8	1349	c.897C>T	c.(895-897)ttC>ttT	p.F299F	ITGB2_ENST00000397854.3_Splice_Site_p.F242F|ITGB2_ENST00000397857.1_Splice_Site_p.F299F|ITGB2_ENST00000397852.1_Splice_Site_p.F299F|ITGB2_ENST00000355153.4_Splice_Site_p.F299F|ITGB2_ENST00000302347.5_Splice_Site_p.F299F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	299	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGGACTTACGAATTCGTTGC	0.637													False	0	False	21:46320235	0	A	46320235	G	A	46320235	5	1	88	1	0	0	0	0	0	0	1	0	7944	1072	37	1	1452	1	ITGB2	21	46320235	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202496	46320235	1809660	19870	27582											
ITGB2	3689	broad.mit.edu	37	chr21	46320304	46320304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttgggggtcaggatggcGcccagcttcccgtcgcccgc	15	15	1	0	rs147150938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46320304G>A	ENST00000397850.2	-	8	1280	c.828C>T	c.(826-828)ggC>ggT	p.G276G	ITGB2_ENST00000397854.3_Silent_p.G219G|ITGB2_ENST00000397857.1_Silent_p.G276G|ITGB2_ENST00000397852.1_Silent_p.G276G|ITGB2_ENST00000355153.4_Silent_p.G276G|ITGB2_ENST00000302347.5_Silent_p.G276G			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	276	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TCAGGATGGCGCCCAGCTTCC	0.627													False	0	True	21:46320304	0	A	46320304	G	A	46320304	2	1	88	1	0	0	0	0	0	0	0	1	7944	1074	38	1		1	ITGB2	21	46320304	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	46320304	1809591	19871	27583											
ADARB1	104	broad.mit.edu	37	chr21	46600335	46600335	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacgctcgcagaaaagtgCtggctggagtcgtcatgaca	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46600335C>A	ENST00000539173.1	+	5	1489	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	ADARB1_ENST00000348831.4_Missense_Mutation_p.L352M|ADARB1_ENST00000360697.3_Missense_Mutation_p.L352M|ADARB1_ENST00000389863.4_Missense_Mutation_p.L352M|ADARB1_ENST00000437626.1_3'UTR	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	352					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CAGAAAAGTGCTGGCTGGAGT	0.493													False	0	True	21:46600335	0	A	46600335	C	A	46600335	3	1	88	1	0	0	0	0	1	0	0	0	282	796	28	3	1064	3	ADARB1	21	46600335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280031	46600335	1529560	19872	27584											
POFUT2	23275	broad.mit.edu	37	chr21	46703411	46703411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgtaactttgcaggacGtaaacctggtcaataaaggg	11	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46703411G>A	ENST00000331343.7	-	3	440	c.414C>T	c.(412-414)taC>taT	p.Y138Y	POFUT2_ENST00000349485.5_Silent_p.Y138Y	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	138					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TTTGCAGGACGTAAACCTGGT	0.532													False	0	False	21:46703411	0	A	46703411	G	A	46703411	2	1	88	1	0	0	0	0	0	0	0	1	12253	1140	40	1		1	POFUT2	21	46703411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103076	46703411	1426484	19873	27585											
COL18A1	80781	broad.mit.edu	37	chr21	46893834	46893834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgctgagctgaaggtgcGcagggacccccaggtgagcc	16	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46893834G>A	ENST00000359759.4	+	3	1943	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	COL18A1_ENST00000400337.2_Missense_Mutation_p.R226H|COL18A1_ENST00000355480.5_Missense_Mutation_p.R406H			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	641	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGAAGGTGCGCAGGGACCCC	0.632													False	0	False	21:46893834	0	A	46893834	G	A	46893834	3	1	88	1	0	0	0	0	1	0	0	0	3698	1087	38	1	2046	1	COL18A1	21	46893834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190423	46893834	1236061	19874	27586											
COL18A1	80781	broad.mit.edu	37	chr21	46908341	46908341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgacagggacctcccGgcctgccgggacttaaggtc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46908341G>A	ENST00000359759.4	+	17	3172	c.3151G>A	c.(3151-3153)Ggc>Agc	p.G1051S	COL18A1_ENST00000400337.2_Missense_Mutation_p.G636S|COL18A1_ENST00000355480.5_Missense_Mutation_p.G816S			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1051	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGACCTCCCGGCCTGCCGGG	0.597													False	0	True	21:46908341	0	A	46908341	G	A	46908341	3	1	88	1	0	0	0	0	1	0	0	0	3698	1116	39	1	3331	1	COL18A1	21	46908341	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14507	46908341	1221554	19875	27587											
COL18A1	80781	broad.mit.edu	37	chr21	46911190	46911190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcctccctggcccccccGgacccccgggacctgtggtc	13	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46911190G>A	ENST00000359759.4	+	21	3385	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R	COL18A1_ENST00000400337.2_Missense_Mutation_p.G707R|COL18A1_ENST00000355480.5_Missense_Mutation_p.G887R			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1122	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGGCCCCCCCGGACCCCCGGG	0.687													False	0	True	21:46911190	0	A	46911190	G	A	46911190	3	1	88	1	0	0	0	0	1	0	0	0	3698	1117	39	1	3560	1	COL18A1	21	46911190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2849	46911190	1218705	19876	27588											
SLC19A1	6573	broad.mit.edu	37	chr21	46950795	46950795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaaggaagaccagccccGcctgcgtggccgtgacgccc	13	17	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46950795G>A	ENST00000311124.4	-	4	1192	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	SLC19A1_ENST00000380010.4_Missense_Mutation_p.A347V|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A347V|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A307V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	347					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GACCAGCCCCGCCTGCGTGGC	0.687													False	0	True	21:46950795	0	A	46950795	G	A	46950795	3	1	88	1	0	0	0	0	1	0	0	0	14509	1087	38	1	747	1	SLC19A1	21	46950795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39605	46950795	1179100	19877	27589											
PCBP3	54039	broad.mit.edu	37	chr21	47329321	47329321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcaagcccccagtgaCgctgaggctggtggtgcctg	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47329321C>T	ENST00000400314.1	+	8	730	c.392C>T	c.(391-393)aCg>aTg	p.T131M	PCBP3_ENST00000400308.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400309.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400304.1_Missense_Mutation_p.T99M|PCBP3_ENST00000449640.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T131M			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	131	KH 2.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCCCCAGTGACGCTGAGGCTG	0.597													False	0	False	21:47329321	0	T	47329321	C	T	47329321	3	4	88	1	0	0	0	0	1	0	0	0	11570	536	19	1	414	1	PCBP3	21	47329321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	378526	47329321	800574	19878	27590											
PCBP3	54039	broad.mit.edu	37	chr21	47330914	47330914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgccatcatccagtgCgtcaagcagatctgtgtggt	11	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47330914C>T	ENST00000400314.1	+	9	908	c.570C>T	c.(568-570)tgC>tgT	p.C190C	PCBP3_ENST00000400308.1_Silent_p.C190C|PCBP3_ENST00000400309.1_Silent_p.C190C|PCBP3_ENST00000400304.1_Silent_p.C158C|PCBP3_ENST00000449640.1_Silent_p.C190C|PCBP3_ENST00000400310.1_Silent_p.C190C			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	190					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCATCCAGTGCGTCAAGCAGA	0.642													False	0	False	21:47330914	0	T	47330914	C	T	47330914	2	4	88	1	0	0	0	0	0	0	0	1	11570	776	27	1		1	PCBP3	21	47330914	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1593	47330914	798981	19879	27591											
PCBP3	54039	broad.mit.edu	37	chr21	47337513	47337513	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctctaggcctacacaatCcagggacagtatgccatccc	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47337513C>T	ENST00000400314.1	+	11	1025	c.687C>T	c.(685-687)atC>atT	p.I229I	PCBP3_ENST00000400308.1_Silent_p.I204I|PCBP3_ENST00000400309.1_Silent_p.I229I|PCBP3_ENST00000400304.1_Silent_p.I220I|PCBP3_ENST00000449640.1_Silent_p.I229I|PCBP3_ENST00000400310.1_Silent_p.I229I			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	229					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCTACACAATCCAGGGACAGT	0.562													False	0	False	21:47337513	0	T	47337513	C	T	47337513	2	4	88	1	0	0	0	0	0	0	0	1	11570	845	30	2		2	PCBP3	21	47337513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6599	47337513	792382	19880	27592											
COL6A1	1291	broad.mit.edu	37	chr21	47410314	47410314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaagggcaagcgtggcaTcgacggggtggacggcgtga	20	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47410314T>C	ENST00000361866.3	+	13	1094	c.980T>C	c.(979-981)aTc>aCc	p.I327T		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	327	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AAGCGTGGCATCGACGGGGTG	0.657													False	0	False	21:47410314	0	C	47410314	T	C	47410314	3	2	88	1	0	0	0	0	1	0	0	0	3722	1435	50	4	1030	4	COL6A1	21	47410314	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72801	47410314	719581	19881	27593											
COL6A1	1291	broad.mit.edu	37	chr21	47423624	47423624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtgacccgcttctaccgCgaggcctcgtccggcgctgc	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47423624C>T	ENST00000361866.3	+	35	2898	c.2784C>T	c.(2782-2784)cgC>cgT	p.R928R	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	928	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCTTCTACCGCGAGGCCTCGT	0.637													False	0	False	21:47423624	0	T	47423624	C	T	47423624	2	4	88	1	0	0	0	0	0	0	0	1	3722	755	27	1		1	COL6A1	21	47423624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13310	47423624	706271	19882	27594											
COL6A2	0	broad.mit.edu	37	chr21	47532275	47532275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccgacggccacgtcacCggcagcccctgcgggggcat	13	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47532275C>T	ENST00000300527.4	+	3	602	c.498C>T	c.(496-498)acC>acT	p.T166T	COL6A2_ENST00000409416.1_Silent_p.T166T|COL6A2_ENST00000357838.4_Silent_p.T166T|COL6A2_ENST00000397763.1_Silent_p.T166T|COL6A2_ENST00000310645.5_Silent_p.T166T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	166	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCCACGTCACCGGCAGCCCCT	0.701													False	0	False	21:47532275	0	T	47532275	C	T	47532275	2	4	88	1	0	0	0	0	0	0	0	1	3723	639	23	1		1	COL6A2	21	47532275	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108651	47532275	597620	19883	27595											
COL6A2	0	broad.mit.edu	37	chr21	47538546	47538546	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggggaccctggccgcccaGgacgcagagggcccccggga	18	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47538546G>T	ENST00000300527.4	+	13	1239	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*	COL6A2_ENST00000409416.1_Nonsense_Mutation_p.G379*|COL6A2_ENST00000357838.4_Nonsense_Mutation_p.G379*|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.G379*|COL6A2_ENST00000310645.5_Nonsense_Mutation_p.G379*	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	379	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGGCCGCCCAGGACGCAGAGG	0.682													False	0	False	21:47538546	0	T	47538546	G	T	47538546	4	4	88	1	0	0	0	0	0	1	0	0	3723	1001	35	3	1181	3	COL6A2	21	47538546	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6271	47538546	591349	19884	27596											
COL6A2	0	broad.mit.edu	37	chr21	47546054	47546054	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgaaaacctctactccatCgcctgcgacaagccacagca	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47546054C>T	ENST00000300527.4	+	26	2429	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	COL6A2_ENST00000409416.1_Silent_p.I775I|COL6A2_ENST00000357838.4_Silent_p.I775I|COL6A2_ENST00000397763.1_Silent_p.I775I|COL6A2_ENST00000310645.5_Silent_p.I775I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	775	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCTACTCCATCGCCTGCGACA	0.602													False	0	False	21:47546054	0	T	47546054	C	T	47546054	2	4	88	1	0	0	0	0	0	0	0	1	3723	874	31	1		1	COL6A2	21	47546054	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7508	47546054	583841	19885	27597											
COL6A2	0	broad.mit.edu	37	chr21	47552176	47552176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgcaggcgtggtgcacGccatcaatgccatcgtgcgc	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47552176G>A	ENST00000300527.4	+	28	2874	c.2770G>A	c.(2770-2772)Gcc>Acc	p.A924T		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	924	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CGTGGTGCACGCCATCAATGC	0.667													False	0	False	21:47552176	0	A	47552176	G	A	47552176	3	1	88	1	0	0	0	0	1	0	0	0	3723	1087	38	1	3206	1	COL6A2	21	47552176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6122	47552176	577719	19886	27598											
COL6A2	0	broad.mit.edu	37	chr21	47552344	47552344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggccttgggcagcgacGtggacatggacgtgctcacc	15	12	1	0	rs140020002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47552344G>A	ENST00000300527.4	+	28	3042	c.2938G>A	c.(2938-2940)Gtg>Atg	p.V980M		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	980	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGCAGCGACGTGGACATGGA	0.662													False	0	False	21:47552344	0	A	47552344	G	A	47552344	3	1	88	1	0	0	0	0	1	0	0	0	3723	1145	40	1	3374	1	COL6A2	21	47552344	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168	47552344	577551	19887	27599											
FTCD	10841	broad.mit.edu	37	chr21	47556926	47556926	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgccgggtctccaagcagTccagcaccagtgcagcctgg	12	16	1	0	rs144456078		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47556926T>A	ENST00000291670.5	-	14	1644	c.1601A>T	c.(1600-1602)gAc>gTc	p.D534V	FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000397746.3_Missense_Mutation_p.D534V|FTCD_ENST00000359679.2_Silent_p.G527G|FTCD_ENST00000397748.1_Silent_p.G527G|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_3'UTR	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	534	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTCCAAGCAGTCCAGCACCAG	0.642													False	0	False	21:47556926	0	A	47556926	T	A	47556926	3	1	88	1	0	0	0	0	1	0	0	0	6123	1667	58	5	28	5	FTCD	21	47556926	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4582	47556926	572969	19888	27600											
FTCD	10841	broad.mit.edu	37	chr21	47571627	47571627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggagctgggaccaaagtCgggcgcccagtcggcctgct	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47571627C>T	ENST00000397748.1	-	5	524	c.481G>A	c.(481-483)Gac>Aac	p.D161N	FTCD_ENST00000397743.1_Missense_Mutation_p.D161N|FTCD_ENST00000291670.5_Missense_Mutation_p.D161N|FTCD_ENST00000397746.3_Missense_Mutation_p.D161N|FTCD_ENST00000359679.2_Missense_Mutation_p.D161N|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Missense_Mutation_p.D161N			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	161	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GGACCAAAGTCGGGCGCCCAG	0.652													False	0	True	21:47571627	0	T	47571627	C	T	47571627	3	4	88	1	0	0	0	0	1	0	0	0	6123	884	31	1	1184	1	FTCD	21	47571627	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14701	47571627	558268	19889	27601											
LSS	4047	broad.mit.edu	37	chr21	47639448	47639448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaaacattcaggacagccaGccagaacttcccccaggagg	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47639448G>T	ENST00000397728.3	-	6	667	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	LSS_ENST00000464357.1_5'UTR|LSS_ENST00000522411.1_Missense_Mutation_p.L186M|LSS_ENST00000457828.2_Missense_Mutation_p.L117M|LSS_ENST00000356396.4_Missense_Mutation_p.L197M	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	197					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AGGACAGCCAGCCAGAACTTC	0.567													False	0	True	21:47639448	0	T	47639448	G	T	47639448	3	4	88	1	0	0	0	0	1	0	0	0	9127	962	34	3	1677	3	LSS	21	47639448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67821	47639448	490447	19890	27602											
MCM3AP	8888	broad.mit.edu	37	chr21	47664864	47664864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaactcagtgacaggccagGacaggtcacacagctgttca	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47664864G>A	ENST00000397708.1	-	24	5149	c.4895C>T	c.(4894-4896)tCc>tTc	p.S1632F	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1632F|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1632					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GACAGGCCAGGACAGGTCACA	0.597													False	0	False	21:47664864	0	A	47664864	G	A	47664864	3	1	88	1	0	0	0	0	1	0	0	0	9455	1174	41	2	1071	2	MCM3AP	21	47664864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25416	47664864	465031	19891	27603											
MCM3AP	8888	broad.mit.edu	37	chr21	47671525	47671525	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcgtctgaatcccaccaGcatcgctggatgtgtcatcc	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47671525G>T	ENST00000397708.1	-	21	4462	c.4208C>A	c.(4207-4209)gCt>gAt	p.A1403D	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1403D|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.9_ENST00000447037.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1403					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATCCCACCAGCATCGCTGGA	0.373													False	0	False	21:47671525	0	T	47671525	G	T	47671525	3	4	88	1	0	0	0	0	1	0	0	0	9455	971	34	3	1770	3	MCM3AP	21	47671525	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6661	47671525	458370	19892	27604											
MCM3AP	8888	broad.mit.edu	37	chr21	47685237	47685237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaaaaagagtccctacctCgtcagagtacatgggcacgg	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47685237C>T	ENST00000397708.1	-	13	3486	c.3232G>A	c.(3232-3234)Gag>Aag	p.E1078K	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1078K			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1078					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.E1078K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTCCCTACCTCGTCAGAGTAC	0.607													False	0	False	21:47685237	0	T	47685237	C	T	47685237	3	4	88	1	0	0	0	0	1	0	0	0	9455	893	31	1	2778	1	MCM3AP	21	47685237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13712	47685237	444658	19893	27605											
MCM3AP	8888	broad.mit.edu	37	chr21	47686901	47686901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcagctcttacccgtcGgaaacggtgaggccgtggca	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47686901G>A	ENST00000397708.1	-	11	3038	c.2784C>T	c.(2782-2784)tcC>tcT	p.S928S	MCM3AP_ENST00000291688.1_Silent_p.S928S			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	928					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTTACCCGTCGGAAACGGTGA	0.552													False	0	False	21:47686901	0	A	47686901	G	A	47686901	2	1	88	1	0	0	0	0	0	0	0	1	9455	1103	39	1		1	MCM3AP	21	47686901	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1664	47686901	442994	19894	27606											
MCM3AP	8888	broad.mit.edu	37	chr21	47690332	47690332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgactgaagtaacagtGtaaaagacaagcgttcaggt	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47690332G>A	ENST00000397708.1	-	10	2865	c.2611C>T	c.(2611-2613)Cac>Tac	p.H871Y	MCM3AP_ENST00000291688.1_Missense_Mutation_p.H871Y			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	871					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAGTAACAGTGTAAAAGACAA	0.408													False	0	False	21:47690332	0	A	47690332	G	A	47690332	3	1	88	1	0	0	0	0	1	0	0	0	9455	1377	48	2	3411	2	MCM3AP	21	47690332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3431	47690332	439563	19895	27607											
MCM3AP	8888	broad.mit.edu	37	chr21	47692708	47692708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttctcaatcagggacacCgtcagggggtcacagaggtg	13	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47692708C>T	ENST00000397708.1	-	9	2486	c.2232G>A	c.(2230-2232)acG>acA	p.T744T	MCM3AP_ENST00000291688.1_Silent_p.T744T			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	744					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.T744T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCAGGGACACCGTCAGGGGGT	0.547													False	0	False	21:47692708	0	T	47692708	C	T	47692708	2	4	88	1	0	0	0	0	0	0	0	1	9455	639	23	1		1	MCM3AP	21	47692708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2376	47692708	437187	19896	27608											
MCM3AP	8888	broad.mit.edu	37	chr21	47697518	47697518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacagtgcctatcaggGtactgagggagagcacacat	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47697518G>A	ENST00000397708.1	-	6	2035	c.1781C>T	c.(1780-1782)aCc>aTc	p.T594I	MCM3AP_ENST00000291688.1_Missense_Mutation_p.T594I			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	594					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GCCTATCAGGGTACTGAGGGA	0.572													False	0	True	21:47697518	0	A	47697518	G	A	47697518	3	1	88	1	0	0	0	0	1	0	0	0	9455	1261	44	2	4257	2	MCM3AP	21	47697518	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4810	47697518	432377	19897	27609											
PCNT	5116	broad.mit.edu	37	chr21	47754626	47754626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccacacaccagaacagCgtgggatcttcacaatcagt	9	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47754626C>T	ENST00000359568.5	+	3	690	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	195					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCAGAACAGCGTGGGATCTT	0.488													False	0	False	21:47754626	0	T	47754626	C	T	47754626	3	4	88	1	0	0	0	0	1	0	0	0	11658	768	27	1	593	1	PCNT	21	47754626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57108	47754626	375269	19898	27610											
PCNT	5116	broad.mit.edu	37	chr21	47766794	47766794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgggagatgctcaacagCcggcgtgcccaggagctggc	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47766794C>T	ENST00000359568.5	+	5	965	c.858C>T	c.(856-858)agC>agT	p.S286S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	286	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGCTCAACAGCCGGCGTGCCC	0.642													False	0	False	21:47766794	0	T	47766794	C	T	47766794	2	4	88	1	0	0	0	0	0	0	0	1	11658	738	26	2		2	PCNT	21	47766794	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12168	47766794	363101	19899	27611											
PCNT	5116	broad.mit.edu	37	chr21	47769052	47769052	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaaagaattggcagaaCagagagctgagttggagaag	14	4	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47769052C>T	ENST00000359568.5	+	7	1266	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	387	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ATTGGCAGAACAGAGAGCTGA	0.368													False	0	True	21:47769052	0	T	47769052	C	T	47769052	4	4	88	1	0	0	0	0	0	1	0	0	11658	479	17	2	1185	2	PCNT	21	47769052	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2258	47769052	360843	19900	27612											
PCNT	5116	broad.mit.edu	37	chr21	47769729	47769729	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcgagaaagaaaaacagCtggaggtgggcagcagcttc	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47769729C>A	ENST00000359568.5	+	8	1446	c.1339C>A	c.(1339-1341)Ctg>Atg	p.L447M	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	447	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAAAAACAGCTGGAGGTGGG	0.418													False	0	False	21:47769729	0	A	47769729	C	A	47769729	3	1	88	1	0	0	0	0	1	0	0	0	11658	796	28	3	1369	3	PCNT	21	47769729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	677	47769729	360166	19901	27613											
PCNT	5116	broad.mit.edu	37	chr21	47786808	47786808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttgattctttggaatcCtgttacctctctgaatttca	6	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47786808C>T	ENST00000359568.5	+	15	3026	c.2919C>T	c.(2917-2919)tcC>tcT	p.S973S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	973					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTTTGGAATCCTGTTACCTCT	0.542													False	0	False	21:47786808	0	T	47786808	C	T	47786808	2	4	88	1	0	0	0	0	0	0	0	1	11658	668	24	2		2	PCNT	21	47786808	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17079	47786808	343087	19902	27614											
PCNT	5116	broad.mit.edu	37	chr21	47817955	47817955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgagcgggagcacgagCgcgaggagttccagcaggag	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47817955C>T	ENST00000359568.5	+	23	4581	c.4474C>T	c.(4474-4476)Cgc>Tgc	p.R1492C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1492					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAGCACGAGCGCGAGGAGTT	0.706													False	0	False	21:47817955	0	T	47817955	C	T	47817955	3	4	88	1	0	0	0	0	1	0	0	0	11658	768	27	1	4564	1	PCNT	21	47817955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31147	47817955	311940	19903	27615											
PCNT	5116	broad.mit.edu	37	chr21	47831953	47831953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcctcccatgatgctgCtttggagccggttgtccctg	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47831953C>A	ENST00000359568.5	+	28	6073	c.5966C>A	c.(5965-5967)gCt>gAt	p.A1989D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1989					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CATGATGCTGCTTTGGAGCCG	0.617													False	0	True	21:47831953	0	A	47831953	C	A	47831953	3	1	88	1	0	0	0	0	1	0	0	0	11658	797	28	3	6076	3	PCNT	21	47831953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13998	47831953	297942	19904	27616											
PCNT	5116	broad.mit.edu	37	chr21	47851714	47851714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggacacaggaggcttGcgtgcaccaggacacacagg	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851714G>A	ENST00000359568.5	+	38	8443	c.8336G>A	c.(8335-8337)tGc>tAc	p.C2779Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2779					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGGAGGCTTGCGTGCACCAG	0.627													False	0	False	21:47851714	0	A	47851714	G	A	47851714	3	1	88	1	0	0	0	0	1	0	0	0	11658	1319	46	2	8486	2	PCNT	21	47851714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19761	47851714	278181	19905	27617											
PCNT	5116	broad.mit.edu	37	chr21	47851775	47851775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgaaggaggagaagtcCcgggtggtggacttgcaagc	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851775C>T	ENST00000359568.5	+	38	8504	c.8397C>T	c.(8395-8397)tcC>tcT	p.S2799S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2799					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGAGAAGTCCCGGGTGGTGG	0.602													False	0	True	21:47851775	0	T	47851775	C	T	47851775	2	4	88	1	0	0	0	0	0	0	0	1	11658	610	22	2		2	PCNT	21	47851775	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61	47851775	278120	19906	27618											
PCNT	5116	broad.mit.edu	37	chr21	47851912	47851912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtaagtgccacactgaagtCgacggtggaagccctgcaca	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851912C>T	ENST00000359568.5	+	38	8641	c.8534C>T	c.(8533-8535)tCg>tTg	p.S2845L	PCNT_ENST00000480896.1_Intron	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2845					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACACTGAAGTCGACGGTGGAA	0.562													False	0	False	21:47851912	0	T	47851912	C	T	47851912	3	4	88	1	0	0	0	0	1	0	0	0	11658	893	31	1	8684	1	PCNT	21	47851912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	47851912	277983	19907	27619											
PCNT	5116	broad.mit.edu	37	chr21	47860063	47860063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgaggcgcccagaccCcggccggcttccaccagctg	11	19	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47860063C>T	ENST00000359568.5	+	42	9448	c.9341C>T	c.(9340-9342)cCc>cTc	p.P3114L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3114	Interaction with NEK2.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGCCCAGACCCCGGCCGGCTT	0.567													False	0	True	21:47860063	0	T	47860063	C	T	47860063	3	4	88	1	0	0	0	0	1	0	0	0	11658	623	22	2	9507	2	PCNT	21	47860063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8151	47860063	269832	19908	27620											
DIP2A	23181	broad.mit.edu	37	chr21	47918539	47918539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctctttacggcgacccGggcgactcacctccactccg	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47918539G>A	ENST00000318711.7	+	5	631	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	DIP2A_ENST00000457905.3_Missense_Mutation_p.G150R|DIP2A_ENST00000466639.1_Missense_Mutation_p.G150R|DIP2A_ENST00000427143.2_Missense_Mutation_p.G86R|DIP2A_ENST00000400274.1_Missense_Mutation_p.G150R|DIP2A_ENST00000417564.2_Missense_Mutation_p.G150R|DIP2A_ENST00000435722.3_Missense_Mutation_p.G150R	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	150					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACGGCGACCCGGGCGACTCAC	0.587													False	0	True	21:47918539	0	A	47918539	G	A	47918539	3	1	88	1	0	0	0	0	1	0	0	0	4557	1116	39	1	466	1	DIP2A	21	47918539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58476	47918539	211356	19909	27621											
DIP2A	23181	broad.mit.edu	37	chr21	47931370	47931370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccaaagcctgagggaagCgagacgagtgtgctgagagg	17	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47931370C>T	ENST00000318711.7	+	8	1131	c.948C>T	c.(946-948)agC>agT	p.S316S	DIP2A_ENST00000457905.3_Silent_p.S315S|DIP2A_ENST00000466639.1_Silent_p.S272S|DIP2A_ENST00000427143.2_Silent_p.S251S|DIP2A_ENST00000400274.1_Silent_p.S311S|DIP2A_ENST00000417564.2_Silent_p.S315S|DIP2A_ENST00000435722.3_Silent_p.S315S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	315					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTGAGGGAAGCGAGACGAGTG	0.532													False	0	False	21:47931370	0	T	47931370	C	T	47931370	2	4	88	1	0	0	0	0	0	0	0	1	4557	767	27	1		1	DIP2A	21	47931370	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12831	47931370	198525	19910	27622											
DIP2A	23181	broad.mit.edu	37	chr21	47931507	47931507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggatacaactgggaaagCcgtctacactctcacctatg	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47931507C>T	ENST00000318711.7	+	8	1268	c.1085C>T	c.(1084-1086)gCc>gTc	p.A362V	DIP2A_ENST00000457905.3_Missense_Mutation_p.A361V|DIP2A_ENST00000466639.1_Missense_Mutation_p.A318V|DIP2A_ENST00000427143.2_Missense_Mutation_p.A297V|DIP2A_ENST00000400274.1_Missense_Mutation_p.A357V|DIP2A_ENST00000417564.2_Missense_Mutation_p.A361V|DIP2A_ENST00000435722.3_Missense_Mutation_p.A361V	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	361					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACTGGGAAAGCCGTCTACACT	0.537													False	0	False	21:47931507	0	T	47931507	C	T	47931507	3	4	88	1	0	0	0	0	1	0	0	0	4557	739	26	2	1112	2	DIP2A	21	47931507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	47931507	198388	19911	27623											
DIP2A	23181	broad.mit.edu	37	chr21	47966834	47966834	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctttccctcaggacaacCtggtcttcatcgtgggcaaa	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47966834C>A	ENST00000318711.7	+	21	2587	c.2404C>A	c.(2404-2406)Ctg>Atg	p.L802M	DIP2A_ENST00000457905.3_Missense_Mutation_p.L801M|DIP2A_ENST00000466639.1_Missense_Mutation_p.L758M|DIP2A_ENST00000427143.2_Missense_Mutation_p.L737M|DIP2A_ENST00000400274.1_Missense_Mutation_p.L797M|DIP2A_ENST00000417564.2_Missense_Mutation_p.L801M|DIP2A_ENST00000435722.3_Missense_Mutation_p.L801M	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	801					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCAGGACAACCTGGTCTTCAT	0.612													False	0	False	21:47966834	0	A	47966834	C	A	47966834	3	1	88	1	0	0	0	0	1	0	0	0	4557	680	24	3	2528	3	DIP2A	21	47966834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35327	47966834	163061	19912	27624											
POTEH	23784	broad.mit.edu	37	chr22	16287519	16287519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcatagcagagtcgtcgtGgtctccagaagtgcccacgt	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:16287519G>T	ENST00000343518.6	-	1	418	c.367C>A	c.(367-369)Cac>Aac	p.H123N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	123								p.H123D(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GAGTCGTCGTGGTCTCCAGAA	0.602													False	0	False	22:16287519	0	T	16287519	G	T	16287519	3	4	88	1	0	0	0	0	1	0	0	0	12336	1348	47	3	1310	3	POTEH	22	16287519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		16287519	35017047	19913	27625											
CCT8L2	150160	broad.mit.edu	37	chr22	17073413	17073413	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgccagccgctggggcagctCcagggctgaagggactgtgc	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17073413C>A	ENST00000359963.3	-	1	287	c.28G>T	c.(28-30)Gag>Tag	p.E10*		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	10					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGGGCAGCTCCAGGGCTGAA	0.642													False	0	False	22:17073413	0	A	17073413	C	A	17073413	4	1	88	1	0	0	0	0	0	1	0	0	2984	864	30	3	1649	3	CCT8L2	22	17073413	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	785894	17073413	34231153	19914	27626											
XKR3	150165	broad.mit.edu	37	chr22	17265006	17265006	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caccatattggaattattttCtttgttgccaggaagatgag	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17265006C>A	ENST00000331428.5	-	4	985	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	295						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAATTATTTTCTTTGTTGCCA	0.423													False	0	True	22:17265006	0	A	17265006	C	A	17265006	4	1	88	1	0	0	0	0	0	1	0	0	17516	922	32	3	500	3	XKR3	22	17265006	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191593	17265006	34039560	19915	27627											
XKR3	150165	broad.mit.edu	37	chr22	17280674	17280674	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttacctctattcaaaggCcattctcgtatagtgagact	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17280674C>T	ENST00000331428.5	-	3	678	c.576G>A	c.(574-576)tgG>tgA	p.W192*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	192						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TATTCAAAGGCCATTCTCGTA	0.348													False	0	False	22:17280674	0	T	17280674	C	T	17280674	4	4	88	1	0	0	0	0	0	1	0	0	17516	740	26	2	811	2	XKR3	22	17280674	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15668	17280674	34023892	19916	27628											
XKR3	150165	broad.mit.edu	37	chr22	17288713	17288713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttgaaaaacatcaggAtaatttgatccaaaattgcc	6	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17288713A>G	ENST00000331428.5	-	2	353	c.251T>C	c.(250-252)aTc>aCc	p.I84T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	84						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAACATCAGGATAATTTGATC	0.338													False	0	False	22:17288713	0	G	17288713	A	G	17288713	3	3	88	1	0	0	0	0	1	0	0	0	17516	333	12	4	1140	4	XKR3	22	17288713	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8039	17288713	34015853	19917	27629											
GAB4	128954	broad.mit.edu	37	chr22	17447087	17447087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagctctgtgagtggggaGccaagcaggtcaaagcgaac	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17447087G>A	ENST00000400588.1	-	6	1298	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	397										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGAGTGGGGAGCCAAGCAGGT	0.592													False	0	False	22:17447087	0	A	17447087	G	A	17447087	2	1	88	1	0	0	0	0	0	0	0	1	6193	958	34	2		2	GAB4	22	17447087	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158374	17447087	33857479	19918	27630											
GAB4	128954	broad.mit.edu	37	chr22	17472966	17472966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggttcaggttgatggtgCgcaggggcttcttggagcca	17	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17472966C>T	ENST00000400588.1	-	2	382	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	92	PH.							p.R92P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTTGATGGTGCGCAGGGGCTT	0.502													False	0	False	22:17472966	0	T	17472966	C	T	17472966	3	4	88	1	0	0	0	0	1	0	0	0	6193	768	27	1	1485	1	GAB4	22	17472966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25879	17472966	33831600	19919	27631											
GAB4	128954	broad.mit.edu	37	chr22	17488858	17488858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcttcttctcggggggCgacttcctcagccagccgct	11	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17488858C>T	ENST00000400588.1	-	1	254	c.147G>A	c.(145-147)tcG>tcA	p.S49S	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	49	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCTCGGGGGGCGACTTCCTCA	0.687													False	0	True	22:17488858	0	T	17488858	C	T	17488858	2	4	88	1	0	0	0	0	0	0	0	1	6193	755	27	1		1	GAB4	22	17488858	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15892	17488858	33815708	19920	27632											
IL17RA	23765	broad.mit.edu	37	chr22	17586821	17586821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtcatcctgctcatcgTctgcatgacctggaggctag	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17586821T>C	ENST00000319363.6	+	11	1155	c.1022T>C	c.(1021-1023)gTc>gCc	p.V341A		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	341					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTGCTCATCGTCTGCATGACC	0.587													False	0	False	22:17586821	0	C	17586821	T	C	17586821	3	2	88	1	0	0	0	0	1	0	0	0	7689	1667	58	4	1064	4	IL17RA	22	17586821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97963	17586821	33717745	19921	27633											
IL17RA	23765	broad.mit.edu	37	chr22	17590366	17590366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacctcgaaggcttgatgCtctcgctcttcgagcagagt	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17590366C>T	ENST00000319363.6	+	13	2390	c.2257C>T	c.(2257-2259)Ctc>Ttc	p.L753F		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	753					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		AGGCTTGATGCTCTCGCTCTT	0.662													False	0	False	22:17590366	0	T	17590366	C	T	17590366	3	4	88	1	0	0	0	0	1	0	0	0	7689	797	28	2	2307	2	IL17RA	22	17590366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3545	17590366	33714200	19922	27634											
CECR6	27439	broad.mit.edu	37	chr22	17601069	17601069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggagtagataagccaggCcaggtaggcgaaggcgaact	16	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17601069C>T	ENST00000331437.3	-	1	1074	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	317	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		ATAAGCCAGGCCAGGTAGGCG	0.731													False	0	True	22:17601069	0	T	17601069	C	T	17601069	3	4	88	1	0	0	0	0	1	0	0	0	3231	739	26	2	791	2	CECR6	22	17601069	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10703	17601069	33703497	19923	27635											
CECR5	27440	broad.mit.edu	37	chr22	17619225	17619225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaacaggttggcgccgtAtacgtcagacatagggttat	14	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17619225A>G	ENST00000336737.4	-	8	983	c.958T>C	c.(958-960)Tac>Cac	p.Y320H	CECR5_ENST00000155674.5_Missense_Mutation_p.Y290H|CECR5_ENST00000399852.3_Missense_Mutation_p.Y120H	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	320							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TTGGCGCCGTATACGTCAGAC	0.557													False	0	False	22:17619225	0	G	17619225	A	G	17619225	3	3	88	1	0	0	0	0	1	0	0	0	3230	449	16	4	317	4	CECR5	22	17619225	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18156	17619225	33685341	19924	27636											
CECR1	51816	broad.mit.edu	37	chr22	17663567	17663567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgactgcggggtgtttgCtcaaagcaaatccatggccg	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17663567C>T	ENST00000399839.1	-	8	1436	c.1166G>A	c.(1165-1167)aGc>aAc	p.S389N	CECR1_ENST00000262607.3_Missense_Mutation_p.S389N|CECR1_ENST00000399837.2_Missense_Mutation_p.S389N|CECR1_ENST00000449907.2_Missense_Mutation_p.S347N|CECR1_ENST00000330232.4_Missense_Mutation_p.S148N	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	389					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGGGTGTTTGCTCAAAGCAAA	0.498													False	0	False	22:17663567	0	T	17663567	C	T	17663567	3	4	88	1	0	0	0	0	1	0	0	0	3228	797	28	2	381	2	CECR1	22	17663567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44342	17663567	33640999	19925	27637											
CECR2	27443	broad.mit.edu	37	chr22	18003201	18003201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagaggaggaagaagagCgtcagattcttctagcagtg	14	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18003201C>T	ENST00000400573.5	+	9	953	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	CECR2_ENST00000342247.5_Missense_Mutation_p.R268C|CECR2_ENST00000400585.2_Missense_Mutation_p.R175C|CECR2_ENST00000262608.8_Missense_Mutation_p.R297C			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGAAGAAGAGCGTCAGATTCT	0.493													False	0	False	22:18003201	0	T	18003201	C	T	18003201	3	4	88	1	0	0	0	0	1	0	0	0	3229	768	27	1	918	1	CECR2	22	18003201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339634	18003201	33301365	19926	27638											
CECR2	27443	broad.mit.edu	37	chr22	18021876	18021876	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaattaacagcctccgaggaCccaggctaggcacaccagag	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18021876C>A	ENST00000400573.5	+	16	1985	c.1978C>A	c.(1978-1980)Ccc>Acc	p.P660T	CECR2_ENST00000400585.2_Missense_Mutation_p.P519T|CECR2_ENST00000262608.8_Missense_Mutation_p.P661T			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCTCCGAGGACCCAGGCTAGG	0.537													False	0	True	22:18021876	0	A	18021876	C	A	18021876	3	1	88	1	0	0	0	0	1	0	0	0	3229	507	18	3	2038	3	CECR2	22	18021876	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18675	18021876	33282690	19927	27639											
CECR2	27443	broad.mit.edu	37	chr22	18022006	18022006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggatggaagcatgtatgCtccagctcagttccagccag	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022006C>T	ENST00000400573.5	+	16	2115	c.2108C>T	c.(2107-2109)gCt>gTt	p.A703V	CECR2_ENST00000400585.2_Missense_Mutation_p.A562V|CECR2_ENST00000262608.8_Missense_Mutation_p.A704V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGCATGTATGCTCCAGCTCAG	0.582													False	0	False	22:18022006	0	T	18022006	C	T	18022006	3	4	88	1	0	0	0	0	1	0	0	0	3229	797	28	2	2168	2	CECR2	22	18022006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130	18022006	33282560	19928	27640											
CECR2	27443	broad.mit.edu	37	chr22	18022140	18022140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagtacctgaatcgagtaCactctgccgtctggaatggg	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022140C>T	ENST00000400573.5	+	16	2249	c.2242C>T	c.(2242-2244)Cac>Tac	p.H748Y	CECR2_ENST00000400585.2_Missense_Mutation_p.H607Y|CECR2_ENST00000262608.8_Missense_Mutation_p.H749Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAATCGAGTACACTCTGCCGT	0.592													False	0	False	22:18022140	0	T	18022140	C	T	18022140	3	4	88	1	0	0	0	0	1	0	0	0	3229	478	17	2	2302	2	CECR2	22	18022140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134	18022140	33282426	19929	27641											
CECR2	27443	broad.mit.edu	37	chr22	18022171	18022171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaatgggaaccatggtgCtacgaaccaaggacccttgg	13	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022171C>A	ENST00000400573.5	+	16	2280	c.2273C>A	c.(2272-2274)gCt>gAt	p.A758D	CECR2_ENST00000400585.2_Missense_Mutation_p.A617D|CECR2_ENST00000262608.8_Missense_Mutation_p.A759D			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AACCATGGTGCTACGAACCAA	0.557													False	0	False	22:18022171	0	A	18022171	C	A	18022171	3	1	88	1	0	0	0	0	1	0	0	0	3229	797	28	3	2333	3	CECR2	22	18022171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	18022171	33282395	19930	27642											
CECR2	27443	broad.mit.edu	37	chr22	18022369	18022369	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgcgaccgccctgcaagtCtgccggacatcggttacagc	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022369C>A	ENST00000400573.5	+	16	2478	c.2471C>A	c.(2470-2472)tCt>tAt	p.S824Y	CECR2_ENST00000400585.2_Missense_Mutation_p.S683Y|CECR2_ENST00000262608.8_Missense_Mutation_p.S825Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCCTGCAAGTCTGCCGGACAT	0.602													False	0	False	22:18022369	0	A	18022369	C	A	18022369	3	1	88	1	0	0	0	0	1	0	0	0	3229	913	32	3	2531	3	CECR2	22	18022369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	18022369	33282197	19931	27643											
CECR2	27443	broad.mit.edu	37	chr22	18028909	18028909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctaccaagcggcagagctCgttgtcagccagcgagtatc	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18028909C>T	ENST00000400573.5	+	17	3873	c.3866C>T	c.(3865-3867)tCg>tTg	p.S1289L	CECR2_ENST00000400585.2_Missense_Mutation_p.S1147L|CECR2_ENST00000262608.8_Missense_Mutation_p.S1290L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGGCAGAGCTCGTTGTCAGCC	0.512													False	0	False	22:18028909	0	T	18028909	C	T	18028909	3	4	88	1	0	0	0	0	1	0	0	0	3229	893	31	1	3930	1	CECR2	22	18028909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6540	18028909	33275657	19932	27644											
CECR2	27443	broad.mit.edu	37	chr22	18031740	18031740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgcacccggtccagtcGcaggcctcgttcccaaagac	10	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18031740G>A	ENST00000400573.5	+	18	4243	c.4236G>A	c.(4234-4236)tcG>tcA	p.S1412S	CECR2_ENST00000400585.2_Silent_p.S1270S|CECR2_ENST00000262608.8_Silent_p.S1413S			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGGTCCAGTCGCAGGCCTCGT	0.507													False	0	False	22:18031740	0	A	18031740	G	A	18031740	2	1	88	1	0	0	0	0	0	0	0	1	3229	1074	38	1		1	CECR2	22	18031740	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2831	18031740	33272826	19933	27645											
BCL2L13	23786	broad.mit.edu	37	chr22	18171769	18171769	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccttcaccagcacaggcTttgaccgtcacacttctcca	6	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18171769T>G	ENST00000355028.3	+	4	373	c.247T>G	c.(247-249)Ttt>Gtt	p.F83V	BCL2L13_ENST00000399782.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000317582.5_Missense_Mutation_p.F83V|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000493680.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000543133.1_Intron|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000337612.5_Intron	NM_001270733.1|NM_001270734.1	NP_001257662.1|NP_001257663.1	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	83					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CAGCACAGGCTTTGACCGTCA	0.443													False	0	True	22:18171769	0	G	18171769	T	G	18171769	3	3	88	1	0	0	0	0	1	0	0	0	1375	1609	56	4	257	4	BCL2L13	22	18171769	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140029	18171769	33132797	19934	27646											
MICAL3	57553	broad.mit.edu	37	chr22	18273538	18273538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccttggacagcatggcaGcctccaggtccttgtcctcc	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18273538G>A	ENST00000441493.2	-	32	6321	c.5969C>T	c.(5968-5970)gCt>gTt	p.A1990V	XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1990						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CAGCATGGCAGCCTCCAGGTC	0.607													False	0	False	22:18273538	0	A	18273538	G	A	18273538	3	1	88	1	0	0	0	0	1	0	0	0	9638	971	34	2	43	2	MICAL3	22	18273538	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101769	18273538	33031028	19935	27647											
MICAL3	57553	broad.mit.edu	37	chr22	18301163	18301163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggccagagctgctggacaGctccctgcgctcctcctggg	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18301163G>T	ENST00000441493.2	-	26	4616	c.4264C>A	c.(4264-4266)Ctg>Atg	p.L1422M		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1422	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGCTGGACAGCTCCCTGCGC	0.682													False	0	False	22:18301163	0	T	18301163	G	T	18301163	3	4	88	1	0	0	0	0	1	0	0	0	9638	962	34	3	1772	3	MICAL3	22	18301163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27625	18301163	33003403	19936	27648											
MICAL3	57553	broad.mit.edu	37	chr22	18347481	18347481	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccagcacctccgacaggCcatagagaaaggggactccg	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18347481C>A	ENST00000429452.1	-	23	3513	c.3161G>T	c.(3160-3162)gGc>gTc	p.G1054V	MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.G1054V|MICAL3_ENST00000444520.1_Intron	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	0	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTCCGACAGGCCATAGAGAAA	0.582													False	0	False	22:18347481	0	A	18347481	C	A	18347481	3	1	88	1	0	0	0	0	1	0	0	0	9638	739	26	3	3624	3	MICAL3	22	18347481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46318	18347481	32957085	19937	27649											
MICAL3	57553	broad.mit.edu	37	chr22	18385498	18385498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactttcaaaagtattagtTggagctgacggatacctggg	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18385498T>C	ENST00000441493.2	-	4	840	c.488A>G	c.(487-489)cAa>cGa	p.Q163R	MICAL3_ENST00000383094.3_Missense_Mutation_p.Q163R|MICAL3_ENST00000429452.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000414725.2_Missense_Mutation_p.Q163R|MICAL3_ENST00000400561.2_Missense_Mutation_p.Q163R|MICAL3_ENST00000207726.7_Missense_Mutation_p.Q163R|MICAL3_ENST00000585038.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000444520.1_Missense_Mutation_p.Q163R	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	163						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AAGTATTAGTTGGAGCTGACG	0.502													False	0	False	22:18385498	0	C	18385498	T	C	18385498	3	2	88	1	0	0	0	0	1	0	0	0	9638	1812	63	4	6373	4	MICAL3	22	18385498	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38017	18385498	32919068	19938	27650											
MICAL3	57553	broad.mit.edu	37	chr22	18387407	18387407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttacttactgatatggtCgatggctccagcacagaact	9	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18387407C>T	ENST00000441493.2	-	3	815	c.463G>A	c.(463-465)Gac>Aac	p.D155N	MICAL3_ENST00000383094.3_Missense_Mutation_p.D155N|MICAL3_ENST00000429452.1_Missense_Mutation_p.D155N|MICAL3_ENST00000414725.2_Missense_Mutation_p.D155N|MICAL3_ENST00000400561.2_Missense_Mutation_p.D155N|MICAL3_ENST00000207726.7_Missense_Mutation_p.D155N|MICAL3_ENST00000585038.1_Missense_Mutation_p.D155N|MICAL3_ENST00000444520.1_Missense_Mutation_p.D155N	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	155						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGATATGGTCGATGGCTCCA	0.478													False	0	False	22:18387407	0	T	18387407	C	T	18387407	3	4	88	1	0	0	0	0	1	0	0	0	9638	884	31	1	6402	1	MICAL3	22	18387407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1909	18387407	32917159	19939	27651											
TUBA8	51807	broad.mit.edu	37	chr22	18604408	18604408	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccacctttttcagcgagActggcaatgggaagcatgtg	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18604408A>C	ENST00000330423.3	+	2	239	c.166A>C	c.(166-168)Act>Cct	p.T56P	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	56					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TTTCAGCGAGACTGGCAATGG	0.557													False	0	False	22:18604408	0	C	18604408	A	C	18604408	3	2	88	1	0	0	0	0	1	0	0	0	16834	275	10	4	172	4	TUBA8	22	18604408	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	217001	18604408	32700158	19940	27652											
TUBA8	51807	broad.mit.edu	37	chr22	18609176	18609176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacagttttggtggggGcactggctccggcttcactt	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18609176G>A	ENST00000330423.3	+	4	504	c.431G>A	c.(430-432)gGc>gAc	p.G144D	TUBA8_ENST00000316027.6_Missense_Mutation_p.G78D	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	144					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TTTGGTGGGGGCACTGGCTCC	0.537													False	0	True	22:18609176	0	A	18609176	G	A	18609176	3	1	88	1	0	0	0	0	1	0	0	0	16834	1203	42	2	445	2	TUBA8	22	18609176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4768	18609176	32695390	19941	27653											
TUBA8	51807	broad.mit.edu	37	chr22	18609586	18609586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcatctctgccgagaaaGcctatcacgaacagctctct	6	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18609586G>A	ENST00000330423.3	+	4	914	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	TUBA8_ENST00000316027.6_Missense_Mutation_p.A215T	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	281					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TGCCGAGAAAGCCTATCACGA	0.582													False	0	True	22:18609586	0	A	18609586	G	A	18609586	3	1	88	1	0	0	0	0	1	0	0	0	16834	971	34	2	855	2	TUBA8	22	18609586	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	410	18609586	32694980	19942	27654											
DGCR6	8214	broad.mit.edu	37	chr22	18898402	18898402	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccggccccacggcaggCggtggagcaccggatccgtg	16	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898402C>T	ENST00000331444.6	+	4	526	c.374C>T	c.(373-375)gCg>gTg	p.A125V	DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_5'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	125					cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						CCACGGCAGGCGGTGGAGCAC	0.657													False	0	False	22:18898402	0	T	18898402	C	T	18898402	5	4	88	1	0	0	0	0	0	0	1	0	4492	782	27	1	388	1	DGCR6	22	18898402	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	288816	18898402	32406164	19943	27655											
DGCR6	8214	broad.mit.edu	37	chr22	18898435	18898435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccgtgaggagcagcgggCgatggaccagaagatcgtcc	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898435C>T	ENST00000331444.6	+	4	559	c.407C>T	c.(406-408)gCg>gTg	p.A136V	DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_5'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	136					cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GAGCAGCGGGCGATGGACCAG	0.677													False	0	True	22:18898435	0	T	18898435	C	T	18898435	3	4	88	1	0	0	0	0	1	0	0	0	4492	768	27	1	421	1	DGCR6	22	18898435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	18898435	32406131	19944	27656											
PRODH	5625	broad.mit.edu	37	chr22	18910658	18910658	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtctccccagtgctgtgagCttaatggctatgaagccgtc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18910658C>A	ENST00000357068.6	-	5	967	c.702G>T	c.(700-702)aaG>aaT	p.K234N	PRODH_ENST00000334029.2_Missense_Mutation_p.K126N|PRODH_ENST00000420436.1_Missense_Mutation_p.K126N	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	234					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GTGCTGTGAGCTTAATGGCTA	0.572													False	0	False	22:18910658	0	A	18910658	C	A	18910658	3	1	88	1	0	0	0	0	1	0	0	0	12624	796	28	3	1140	3	PRODH	22	18910658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12223	18910658	32393908	19945	27657											
DGCR2	9993	broad.mit.edu	37	chr22	19028666	19028666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgggtacttgtatgccGtgtagggaggtggagggtcg	19	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19028666G>A	ENST00000263196.7	-	9	1548	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.T393M	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	434					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTTGTATGCCGTGTAGGGAGG	0.642													False	0	False	22:19028666	0	A	19028666	G	A	19028666	3	1	88	1	0	0	0	0	1	0	0	0	4491	1145	40	1	359	1	DGCR2	22	19028666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118008	19028666	32275900	19946	27658											
DGCR2	9993	broad.mit.edu	37	chr22	19076975	19076975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatggtgccgctgcgacaCgcaaactgcccagggttgca	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19076975C>T	ENST00000545799.1	-	2	308	c.108G>A	c.(106-108)gcG>gcA	p.A36A	DGCR2_ENST00000263196.7_Silent_p.A36A|DGCR2_ENST00000537045.1_Intron			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	36	LDL-receptor class A.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CGCTGCGACACGCAAACTGCC	0.622													False	0	False	22:19076975	0	T	19076975	C	T	19076975	2	4	88	1	0	0	0	0	0	0	0	1	4491	523	19	1		1	DGCR2	22	19076975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48309	19076975	32227591	19947	27659											
TSSK2	23617	broad.mit.edu	37	chr22	19119450	19119450	+	Missense_Mutation	SNP	G	G	A													agaccttctgcgggtcggcaGcatatgcagcccccgaggtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19119450G>A	ENST00000399635.2	+	1	1130	c.538G>A	c.(538-540)Gca>Aca	p.A180T	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	180	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CGGGTCGGCAGCATATGCAGC	0.592													False	0	False	22:19119450	0	A	19119450	G	A	19119450	3	1	88	1	0	0	0	0	1	0	0	0	16752	971	34	2	540	2	TSSK2	22	19119450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42475	19119450	32185116	19948	27660	288	2									
TSSK2	23617	broad.mit.edu	37	chr22	19119459	19119459	+	Missense_Mutation	SNP	G	G	A													gcgggtcggcagcatatgcaGcccccgaggtgctgcagagc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19119459G>A	ENST00000399635.2	+	1	1139	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	183	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AGCATATGCAGCCCCCGAGGT	0.597													False	0	True	22:19119459	0	A	19119459	G	A	19119459	3	1	88	1	0	0	0	0	1	0	0	0	16752	971	34	2	549	2	TSSK2	22	19119459	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9	19119459	32185107	19949	27661	288	2									
SLC25A1	6576	broad.mit.edu	37	chr22	19163678	19163678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttgttgagcagcttcaCcacttcatcatagatgacaa	6	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19163678C>T	ENST00000215882.5	-	9	1057	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	SLC25A1_ENST00000451283.1_Missense_Mutation_p.V198M	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	301					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		AGCAGCTTCACCACTTCATCA	0.602													False	0	False	22:19163678	0	T	19163678	C	T	19163678	3	4	88	1	0	0	0	0	1	0	0	0	14551	507	18	2	38	2	SLC25A1	22	19163678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44219	19163678	32140888	19950	27662											
CLTCL1	8218	broad.mit.edu	37	chr22	19226854	19226854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaaaacacatctactgCtttctttacaaaaggttggt	7	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19226854C>T	ENST00000263200.10	-	5	811	c.739G>A	c.(739-741)Gca>Aca	p.A247T	CLTCL1_ENST00000427926.1_Missense_Mutation_p.A247T|CLTCL1_ENST00000353891.5_Missense_Mutation_p.A247T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	247	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACATCTACTGCTTTCTTTACA	0.443			T	?	ALCL								False	0	True	22:19226854	0	T	19226854	C	T	19226854	3	4	88	1	0	0	0	0	1	0	0	0	3590	797	28	2	4295	2	CLTCL1	22	19226854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63176	19226854	32077712	19951	27663											
MRPL40	64976	broad.mit.edu	37	chr22	19422398	19422398	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagattttattacccctctaAagttcttggataaagcaagg	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19422398A>C	ENST00000333130.3	+	3	930	c.277A>C	c.(277-279)Aag>Cag	p.K93Q	HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	93					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TACCCCTCTAAAGTTCTTGGA	0.403													False	0	True	22:19422398	0	C	19422398	A	C	19422398	3	2	88	1	0	0	0	0	1	0	0	0	9871	15	1	4	287	4	MRPL40	22	19422398	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	195544	19422398	31882168	19952	27664											
UFD1L	7353	broad.mit.edu	37	chr22	19459280	19459280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaatgcgtcatgcggtccGaattcttattggtcagtttg	10	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19459280G>A	ENST00000263202.10	-	4	350	c.221C>T	c.(220-222)tCg>tTg	p.S74L	UFD1L_ENST00000360834.4_Missense_Mutation_p.S63L|UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Missense_Mutation_p.S74L	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)						skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CATGCGGTCCGAATTCTTATT	0.522													False	0	False	22:19459280	0	A	19459280	G	A	19459280	3	1	88	1	0	0	0	0	1	0	0	0	17019	1059	37	1	738	1	UFD1L	22	19459280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36882	19459280	31845286	19953	27665											
SEPT5	5413	broad.mit.edu	37	chr22	19707735	19707735	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgtggacacgccgggattCggggacgctgtcaacaacac	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19707735C>T	ENST00000438754.2	+	4	643	c.363C>T	c.(361-363)ttC>ttT	p.F121F	SEPT5_ENST00000406395.1_Silent_p.F112F|SEPT5_ENST00000383045.3_Silent_p.F121F|SEPT5_ENST00000455784.2_Silent_p.F112F	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	112					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGCCGGGATTCGGGGACGCTG	0.592													False	0	True	22:19707735	0	T	19707735	C	T	19707735	2	4	88	1	0	0	0	0	0	0	0	1	14148	883	31	1		1	SEPT5	22	19707735	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248455	19707735	31596831	19954	27666											
SEPT5	5413	broad.mit.edu	37	chr22	19708076	19708076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgctctcggcaggctgCggccagtggatgtgggtttc	17	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19708076C>T	ENST00000438754.2	+	6	809	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	SEPT5_ENST00000406395.1_Missense_Mutation_p.R168W|SEPT5_ENST00000383045.3_Missense_Mutation_p.R177W|SEPT5_ENST00000455784.2_Missense_Mutation_p.R168W	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	168					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGGCAGGCTGCGGCCAGTGGA	0.607													False	0	False	22:19708076	0	T	19708076	C	T	19708076	3	4	88	1	0	0	0	0	1	0	0	0	14148	759	27	1	528	1	SEPT5	22	19708076	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	341	19708076	31596490	19955	27667											
SEPT5	5413	broad.mit.edu	37	chr22	19709181	19709181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagagcgcgcccttcgccGttataggcagcaacacggtg	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19709181G>A	ENST00000438754.2	+	8	1043	c.763G>A	c.(763-765)Gtt>Att	p.V255I	SEPT5_ENST00000406395.1_Missense_Mutation_p.V246I|SEPT5_ENST00000383045.3_Missense_Mutation_p.V255I|SEPT5_ENST00000455784.2_Missense_Mutation_p.V246I	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	246					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCCCTTCGCCGTTATAGGCAG	0.637													False	0	False	22:19709181	0	A	19709181	G	A	19709181	3	1	88	1	0	0	0	0	1	0	0	0	14148	1145	40	1	770	1	SEPT5	22	19709181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1105	19709181	31595385	19956	27668											
SEPT5	5413	broad.mit.edu	37	chr22	19709380	19709380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcgacttcgtgaagctgCgcaacatgctcatccgcacg	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19709380C>T	ENST00000438754.2	+	9	1146	c.866C>T	c.(865-867)gCg>gTg	p.A289V	SEPT5_ENST00000406395.1_Missense_Mutation_p.A280V|SEPT5_ENST00000383045.3_Missense_Mutation_p.R293C|SEPT5_ENST00000455784.2_Missense_Mutation_p.R284C	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	210					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGTGAAGCTGCGCAACATGCT	0.642													False	0	False	22:19709380	0	T	19709380	C	T	19709380	3	4	88	1	0	0	0	0	1	0	0	0	14148	768	27	1	888	1	SEPT5	22	19709380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199	19709380	31595186	19957	27669											
TBX1	6899	broad.mit.edu	37	chr22	19770458	19770458	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcacagaaggctctggGctccaacctggcttgctgga	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19770458G>A	ENST00000359500.3	+	9	1161	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G		NM_005992.1	NP_005983.1	O43435	TBX1_HUMAN	T-box 1	0					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				aaggctctgggctccaacctg	0.532													False	0	True	22:19770458	0	A	19770458	G	A	19770458	2	1	88	1	0	0	0	0	0	0	0	1	15732	1190	42	2		2	TBX1	22	19770458	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61078	19770458	31534108	19958	27670											
C22orf29	79680	broad.mit.edu	37	chr22	19838878	19838878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggattagctgactccgacaGtctagggacaggtgtggggg	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19838878G>T	ENST00000405640.1	-	2	1575	c.907C>A	c.(907-909)Ctg>Atg	p.L303M	GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.L303M|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.L303M|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000484072.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	303	Pro-rich.									NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GACTCCGACAGTCTAGGGACA	0.597													False	0	False	22:19838878	0	T	19838878	G	T	19838878	3	4	88	1	0	0	0	0	1	0	0	0	2157	1020	36	3	191	3	C22orf29	22	19838878	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68420	19838878	31465688	19959	27671											
C22orf29	79680	broad.mit.edu	37	chr22	19839449	19839449	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaagaagcggtccagtagCcacggggagccatcaaaggt	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19839449C>T	ENST00000405640.1	-	2	1004	c.336G>A	c.(334-336)tgG>tgA	p.W112*	GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000407472.1_Nonsense_Mutation_p.W112*|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.W112*|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000484072.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	112										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GGTCCAGTAGCCACGGGGAGC	0.622													False	0	False	22:19839449	0	T	19839449	C	T	19839449	4	4	88	1	0	0	0	0	0	1	0	0	2157	740	26	2	762	2	C22orf29	22	19839449	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	571	19839449	31465117	19960	27672											
TXNRD2	10587	broad.mit.edu	37	chr22	19868151	19868151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagagaactcacattgtcGtagtccatcagatctgagga	10	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19868151G>A	ENST00000535882.1	-	13	1172	c.1173C>T	c.(1171-1173)taC>taT	p.Y391Y	TXNRD2_ENST00000400521.1_Silent_p.Y392Y|TXNRD2_ENST00000400519.1_Silent_p.Y391Y|TXNRD2_ENST00000400518.1_Silent_p.Y362Y|TXNRD2_ENST00000542719.1_Silent_p.Y362Y			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	392					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCACATTGTCGTAGTCCATCA	0.622													False	0	False	22:19868151	0	A	19868151	G	A	19868151	2	1	88	1	0	0	0	0	0	0	0	1	16892	1140	40	1		1	TXNRD2	22	19868151	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28702	19868151	31436415	19961	27673											
TXNRD2	10587	broad.mit.edu	37	chr22	19870891	19870891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtggggcacagaggtgGcttcccgggagtccaccagg	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19870891G>A	ENST00000535882.1	-	12	1039	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	TXNRD2_ENST00000400521.1_Missense_Mutation_p.A348V|TXNRD2_ENST00000400519.1_Missense_Mutation_p.A347V|TXNRD2_ENST00000400518.1_Missense_Mutation_p.A318V|TXNRD2_ENST00000542719.1_Missense_Mutation_p.A318V			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	348					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CACAGAGGTGGCTTCCCGGGA	0.627													False	0	False	22:19870891	0	A	19870891	G	A	19870891	3	1	88	1	0	0	0	0	1	0	0	0	16892	1203	42	2	555	2	TXNRD2	22	19870891	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2740	19870891	31433675	19962	27674											
TXNRD2	10587	broad.mit.edu	37	chr22	19882713	19882713	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggtggggagacacgcagaGatgcaaggtgctggggatgg	21	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19882713G>T	ENST00000334363.9	-	12	960	c.960C>A	c.(958-960)atC>atA	p.I320I	TXNRD2_ENST00000535882.1_Intron|TXNRD2_ENST00000400521.1_Intron|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000400518.1_Intron|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000542719.1_Intron	NM_001282512.1	NP_001269441.1	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	0					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GACACGCAGAGATGCAAGGTG	0.597													False	0	False	22:19882713	0	T	19882713	G	T	19882713	2	4	88	1	0	0	0	0	0	0	0	1	16892	957	33	3		3	TXNRD2	22	19882713	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11822	19882713	31421853	19963	27675											
TXNRD2	10587	broad.mit.edu	37	chr22	19883045	19883045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacccgcgagggggcacaGcccctcaggaaccgggtgcc	15	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19883045G>A	ENST00000535882.1	-	11	830	c.831C>T	c.(829-831)ggC>ggT	p.G277G	TXNRD2_ENST00000400521.1_Silent_p.G278G|TXNRD2_ENST00000400519.1_Silent_p.G277G|TXNRD2_ENST00000400518.1_Silent_p.G248G|TXNRD2_ENST00000334363.9_Silent_p.G278G|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000542719.1_Silent_p.G248G			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	278					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					AGGGGGCACAGCCCCTCAGGA	0.622													False	0	True	22:19883045	0	A	19883045	G	A	19883045	2	1	88	1	0	0	0	0	0	0	0	1	16892	958	34	2		2	TXNRD2	22	19883045	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	332	19883045	31421521	19964	27676											
ARVCF	421	broad.mit.edu	37	chr22	19963242	19963242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttcgcttgggcaggtctaGcgtgtcaaagttccggtcca	13	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19963242G>T	ENST00000263207.3	-	11	2218	c.1927C>A	c.(1927-1929)Cta>Ata	p.L643I	ARVCF_ENST00000406259.1_Missense_Mutation_p.L637I|ARVCF_ENST00000406522.1_Missense_Mutation_p.L574I|ARVCF_ENST00000401994.1_Missense_Mutation_p.L580I|ARVCF_ENST00000344269.3_Missense_Mutation_p.L580I	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	643					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCAGGTCTAGCGTGTCAAAG	0.577													False	0	False	22:19963242	0	T	19963242	G	T	19963242	3	4	88	1	0	0	0	0	1	0	0	0	1007	962	34	3	997	3	ARVCF	22	19963242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80197	19963242	31341324	19965	27677											
ARVCF	421	broad.mit.edu	37	chr22	19965028	19965028	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggggcccgggctcggcctCctggtacctgtcggccccgg	16	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19965028C>A	ENST00000263207.3	-	9	2071	c.1780G>T	c.(1780-1782)Gag>Tag	p.E594*	ARVCF_ENST00000406259.1_Nonsense_Mutation_p.E594*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000401994.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000344269.3_Nonsense_Mutation_p.E531*	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	594					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCTCGGCCTCCTGGTACCTG	0.667													False	0	False	22:19965028	0	A	19965028	C	A	19965028	4	1	88	1	0	0	0	0	0	1	0	0	1007	864	30	3	1152	3	ARVCF	22	19965028	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1786	19965028	31339538	19966	27678											
ARVCF	421	broad.mit.edu	37	chr22	19969241	19969241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactgtccgagtggtcaccGtcttgacagtcttggtgacc	12	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19969241G>A	ENST00000263207.3	-	5	680	c.389C>T	c.(388-390)aCg>aTg	p.T130M	ARVCF_ENST00000406259.1_Missense_Mutation_p.T130M|ARVCF_ENST00000406522.1_Missense_Mutation_p.T67M|ARVCF_ENST00000401994.1_Missense_Mutation_p.T67M|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000344269.3_Missense_Mutation_p.T67M	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	130					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					AGTGGTCACCGTCTTGACAGT	0.612													False	0	False	22:19969241	0	A	19969241	G	A	19969241	3	1	88	1	0	0	0	0	1	0	0	0	1007	1145	40	1	2559	1	ARVCF	22	19969241	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4213	19969241	31335325	19967	27679											
DGCR8	54487	broad.mit.edu	37	chr22	20073696	20073696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaccccttcaacttctaCggagcttctcttctctccaa	6	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20073696C>T	ENST00000351989.3	+	2	639	c.210C>T	c.(208-210)taC>taT	p.Y70Y	DGCR8_ENST00000383024.2_Silent_p.Y70Y|DGCR8_ENST00000407755.1_Silent_p.Y70Y	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	70	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TCAACTTCTACGGAGCTTCTC	0.602													False	0	False	22:20073696	0	T	20073696	C	T	20073696	2	4	88	1	0	0	0	0	0	0	0	1	4494	547	19	1		1	DGCR8	22	20073696	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104455	20073696	31230870	19968	27680											
DGCR8	54487	broad.mit.edu	37	chr22	20074812	20074812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagagacaagtgtgcagcCgatgatgaccaagattaaaa	12	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20074812C>T	ENST00000351989.3	+	3	1277	c.848C>T	c.(847-849)cCg>cTg	p.P283L	DGCR8_ENST00000383024.2_Missense_Mutation_p.P283L|DGCR8_ENST00000407755.1_Missense_Mutation_p.P283L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	283	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTGTGCAGCCGATGATGACC	0.527													False	0	False	22:20074812	0	T	20074812	C	T	20074812	3	4	88	1	0	0	0	0	1	0	0	0	4494	652	23	1	854	1	DGCR8	22	20074812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1116	20074812	31229754	19969	27681											
DGCR8	54487	broad.mit.edu	37	chr22	20094192	20094192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagtgaatacgtcatggCgtgtggcaagcacacagtgc	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20094192C>T	ENST00000351989.3	+	11	2396	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	DGCR8_ENST00000383024.2_Missense_Mutation_p.A623V|DGCR8_ENST00000407755.1_Missense_Mutation_p.A623V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	656	DRBM 2.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TACGTCATGGCGTGTGGCAAG	0.567													False	0	False	22:20094192	0	T	20094192	C	T	20094192	3	4	88	1	0	0	0	0	1	0	0	0	4494	768	27	1	2005	1	DGCR8	22	20094192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19380	20094192	31210374	19970	27682											
RANBP1	5902	broad.mit.edu	37	chr22	20112936	20112936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagccagagctgctggCcatccgcttcctgaatgctg	10	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20112936C>T	ENST00000430524.1	+	5	977	c.146C>T	c.(145-147)gCc>gTc	p.A49V	RANBP1_ENST00000402752.1_Missense_Mutation_p.A139V|RANBP1_ENST00000331821.3_Missense_Mutation_p.A139V			P43487	RANG_HUMAN	RAN binding protein 1	139	RanBD1.				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					GAGCTGCTGGCCATCCGCTTC	0.632													False	0	False	22:20112936	0	T	20112936	C	T	20112936	3	4	88	1	0	0	0	0	1	0	0	0	13104	739	26	2	430	2	RANBP1	22	20112936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18744	20112936	31191630	19971	27683											
ZDHHC8	29801	broad.mit.edu	37	chr22	20130691	20130691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctacctgcatcctggggCaacgggcgacccgccacggc	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20130691C>T	ENST00000334554.7	+	10	1679	c.1538C>T	c.(1537-1539)gCa>gTa	p.A513V	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.A421V|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.A513V	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	513						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CATCCTGGGGCAACGGGCGAC	0.721													False	0	True	22:20130691	0	T	20130691	C	T	20130691	3	4	88	1	0	0	0	0	1	0	0	0	17704	710	25	2	1576	2	ZDHHC8	22	20130691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17755	20130691	31173875	19972	27684											
RTN4R	65078	broad.mit.edu	37	chr22	20230563	20230563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggctcattgtagcatacGcaggcacctgggcatggggc	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20230563G>A	ENST00000043402.7	-	2	531	c.93C>T	c.(91-93)tgC>tgT	p.C31C	RTN4R_ENST00000469601.1_5'UTR	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	31	LRRNT.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					TGTAGCATACGCAGGCACCTG	0.667													False	0	False	22:20230563	0	A	20230563	G	A	20230563	2	1	88	1	0	0	0	0	0	0	0	1	13809	1079	38	1		1	RTN4R	22	20230563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99872	20230563	31074003	19973	27685											
RIMBP3	85376	broad.mit.edu	37	chr22	20458364	20458364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggggtctggagaggcCctgcttccccatgctctgca	13	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20458364C>A	ENST00000426804.1	-	1	3422	c.2938G>T	c.(2938-2940)Ggc>Tgc	p.G980C		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CTGGAGAGGCCCTGCTTCCCC	0.587													False	0	True	22:20458364	0	A	20458364	C	A	20458364	3	1	88	1	0	0	0	0	1	0	0	0	13443	623	22	3	1985	3	RIMBP3	22	20458364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227801	20458364	30846202	19974	27686											
RIMBP3	85376	broad.mit.edu	37	chr22	20459530	20459530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtcgccgcgccggggccGcctgcgcgcccagctcctgg	15	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20459530G>A	ENST00000426804.1	-	1	2256	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CGCCGGGGCCGCCTGCGCGCC	0.746													False	0	False	22:20459530	0	A	20459530	G	A	20459530	3	1	88	1	0	0	0	0	1	0	0	0	13443	1087	38	1	3151	1	RIMBP3	22	20459530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1166	20459530	30845036	19975	27687											
KLHL22	84861	broad.mit.edu	37	chr22	20800760	20800760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctcctgtatccggcatcGttgttgctgcccccgatcac	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20800760G>A	ENST00000328879.4	-	6	1665	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	KLHL22_ENST00000440659.2_Silent_p.N360N	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	503					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATCCGGCATCGTTGTTGCTGC	0.597													False	0	False	22:20800760	0	A	20800760	G	A	20800760	2	1	88	1	0	0	0	0	0	0	0	1	8427	1136	40	1		1	KLHL22	22	20800760	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	341230	20800760	30503806	19976	27688											
KLHL22	84861	broad.mit.edu	37	chr22	20819860	20819860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaatggataatttctgGgatctgcagagagaatgaca	12	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20819860G>A	ENST00000328879.4	-	4	553	c.397C>T	c.(397-399)Cca>Tca	p.P133S	KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	133					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATAATTTCTGGGATCTGCAGA	0.522													False	0	True	22:20819860	0	A	20819860	G	A	20819860	3	1	88	1	0	0	0	0	1	0	0	0	8427	1232	43	2	1523	2	KLHL22	22	20819860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19100	20819860	30484706	19977	27689											
KLHL22	84861	broad.mit.edu	37	chr22	20843290	20843290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgaagtaatcgcaggacGcagccagcaggatgcgatgg	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20843290G>A	ENST00000328879.4	-	2	365	c.209C>T	c.(208-210)gCg>gTg	p.A70V	KLHL22_ENST00000440659.2_5'UTR|KLHL22_ENST00000470335.1_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	70	BTB.				cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATCGCAGGACGCAGCCAGCAG	0.552													False	0	True	22:20843290	0	A	20843290	G	A	20843290	3	1	88	1	0	0	0	0	1	0	0	0	8427	1087	38	1	1719	1	KLHL22	22	20843290	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23430	20843290	30461276	19978	27690											
MED15	51586	broad.mit.edu	37	chr22	20921060	20921060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttggtgtcacaggcgcaaGctctccctggacaaatgttg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20921060G>T	ENST00000263205.7	+	7	1066	c.997G>T	c.(997-999)Gct>Tct	p.A333S	MED15_ENST00000382974.2_Missense_Mutation_p.A262S|MED15_ENST00000292733.7_Missense_Mutation_p.A333S|MED15_ENST00000542773.1_Missense_Mutation_p.A138S|MED15_ENST00000541476.1_Missense_Mutation_p.A307S|MED15_ENST00000425759.2_Missense_Mutation_p.A222S|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.A307S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	333	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ACAGGCGCAAGCTCTCCCTGG	0.582													False	0	False	22:20921060	0	T	20921060	G	T	20921060	3	4	88	1	0	0	0	0	1	0	0	0	9500	971	34	3	1023	3	MED15	22	20921060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77770	20921060	30383506	19979	27691											
MED15	51586	broad.mit.edu	37	chr22	20937634	20937634	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacagaaaaaaggacctgAgtaagatgaagagccttctg	11	7	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20937634A>C	ENST00000263205.7	+	13	1759	c.1690A>C	c.(1690-1692)Agt>Cgt	p.S564R	MED15_ENST00000382974.2_Missense_Mutation_p.S453R|MED15_ENST00000292733.7_Missense_Mutation_p.S524R|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.S498R|MED15_ENST00000425759.2_Missense_Mutation_p.S413R|MED15_ENST00000406969.1_Missense_Mutation_p.S498R	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	564					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AAAGGACCTGAGTAAGATGAA	0.592													False	0	False	22:20937634	0	C	20937634	A	C	20937634	3	2	88	1	0	0	0	0	1	0	0	0	9500	304	11	4	1740	4	MED15	22	20937634	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16574	20937634	30366932	19980	27692											
PI4KA	5297	broad.mit.edu	37	chr22	21087302	21087302	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcaggtacttcttatctgaGaacatggcggtccaaaattt	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21087302G>T	ENST00000255882.6	-	36	4331	c.4245C>A	c.(4243-4245)ttC>ttA	p.F1415L	PI4KA_ENST00000572273.1_Missense_Mutation_p.F1357L|PI4KA_ENST00000414196.3_Missense_Mutation_p.F167L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1357					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCTTATCTGAGAACATGGCGG	0.527													False	0	False	22:21087302	0	T	21087302	G	T	21087302	3	4	88	1	0	0	0	0	1	0	0	0	11942	933	33	3	2143	3	PI4KA	22	21087302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149668	21087302	30217264	19981	27693											
PI4KA	5297	broad.mit.edu	37	chr22	21105625	21105625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccgtgatccggtagggggCgtcggggatgtcatagtaag	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21105625C>T	ENST00000255882.6	-	27	3195	c.3109G>A	c.(3109-3111)Gcc>Acc	p.A1037T	PI4KA_ENST00000572273.1_Missense_Mutation_p.A979T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	979					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CGGTAGGGGGCGTCGGGGATG	0.552													False	0	True	22:21105625	0	T	21105625	C	T	21105625	3	4	88	1	0	0	0	0	1	0	0	0	11942	768	27	1	3315	1	PI4KA	22	21105625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18323	21105625	30198941	19982	27694											
SERPIND1	3053	broad.mit.edu	37	chr22	21134137	21134137	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccatgaacaagtgcactcGattttgcattttaaagactt	6	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21134137G>A	ENST00000215727.5	+	2	820	c.537G>A	c.(535-537)tcG>tcA	p.S179S	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.S179S	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	179					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	AAGTGCACTCGATTTTGCATT	0.433													False	0	False	22:21134137	0	A	21134137	G	A	21134137	2	1	88	1	0	0	0	0	0	0	0	1	14191	1045	37	1		1	SERPIND1	22	21134137	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28512	21134137	30170429	19983	27695											
SERPIND1	3053	broad.mit.edu	37	chr22	21141285	21141285	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgaccgcccctttcttttCctcatctacgagcatcgcac	6	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21141285C>T	ENST00000215727.5	+	5	1714	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.F477F	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	477					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCTTTCTTTTCCTCATCTACG	0.592													False	0	True	22:21141285	0	T	21141285	C	T	21141285	2	4	88	1	0	0	0	0	0	0	0	1	14191	854	30	2		2	SERPIND1	22	21141285	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7148	21141285	30163281	19984	27696											
PI4KA	5297	broad.mit.edu	37	chr22	21150489	21150489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctcgcttcccctccagcCccagctgcacaaacaactcc	6	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21150489C>T	ENST00000255882.6	-	18	2308	c.2222G>A	c.(2221-2223)gGg>gAg	p.G741E	PI4KA_ENST00000572273.1_Missense_Mutation_p.G683E	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	683					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCCCTCCAGCCCCAGCTGCAC	0.587													False	0	True	22:21150489	0	T	21150489	C	T	21150489	3	4	88	1	0	0	0	0	1	0	0	0	11942	623	22	2	4238	2	PI4KA	22	21150489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9204	21150489	30154077	19985	27697											
SNAP29	9342	broad.mit.edu	37	chr22	21224631	21224631	+	Missense_Mutation	SNP	G	G	A													ctcggtttccccaggagctcGcccgtcagcgaggagtcctg					rs146502130	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224631G>A	ENST00000215730.7	+	2	372	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa						cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CCAGGAGCTCGCCCGTCAGCG	0.532													False	0	True	22:21224631	0	A	21224631	G	A	21224631	3	1	88	1	0	0	0	0	1	0	0	0	14911	1087	38	1	250	1	SNAP29	22	21224631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74142	21224631	30079935	19986	27698	289	2									
SNAP29	9342	broad.mit.edu	37	chr22	21224637	21224637	+	Nonsense_Mutation	SNP	C	C	T													ttccccaggagctcgcccgtCagcgaggagtcctggagcgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224637C>T	ENST00000215730.7	+	2	378	c.250C>T	c.(250-252)Cag>Tag	p.Q84*		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa						cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GCTCGCCCGTCAGCGAGGAGT	0.532													False	0	False	22:21224637	0	T	21224637	C	T	21224637	4	4	88	1	0	0	0	0	0	1	0	0	14911	827	29	2	256	2	SNAP29	22	21224637	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	21224637	30079929	19987	27699	289	2									
SNAP29	9342	broad.mit.edu	37	chr22	21242053	21242053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaagatgacattcttgacCggctgacaaccaaagtggac	10	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21242053C>T	ENST00000215730.7	+	5	834	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa		t-SNARE coiled-coil homology.				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CATTCTTGACCGGCTGACAAC	0.468													False	0	False	22:21242053	0	T	21242053	C	T	21242053	3	4	88	1	0	0	0	0	1	0	0	0	14911	643	23	1	724	1	SNAP29	22	21242053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17416	21242053	30062513	19988	27700											
AIFM3	150209	broad.mit.edu	37	chr22	21330996	21330996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgtgtctgtggtggagCtggaggagacgcccttcagg	16	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21330996C>T	ENST00000399167.2	+	12	1327	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	AIFM3_ENST00000399163.2_Silent_p.L363L|AIFM3_ENST00000333607.6_Silent_p.L363L|AIFM3_ENST00000440238.2_Silent_p.L363L|AIFM3_ENST00000335375.5_Silent_p.L351L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Silent_p.L369L	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGTGGTGGAGCTGGAGGAGAC	0.672													False	0	False	22:21330996	0	T	21330996	C	T	21330996	2	4	88	1	0	0	0	0	0	0	0	1	428	796	28	2		2	AIFM3	22	21330996	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88943	21330996	29973570	19989	27701											
AIFM3	150209	broad.mit.edu	37	chr22	21335305	21335305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgacatgtcctggcttacGgggaaaggatcctgagctca	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21335305G>A	ENST00000399167.2	+	21	2043	c.1803G>A	c.(1801-1803)acG>acA	p.T601T	AIFM3_ENST00000399163.2_Silent_p.T594T|AIFM3_ENST00000333607.6_Silent_p.T594T|AIFM3_ENST00000440238.2_Silent_p.T601T|AIFM3_ENST00000335375.5_Silent_p.T582T|LZTR1_ENST00000479606.1_Intron|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Silent_p.T600T	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCTGGCTTACGGGGAAAGGAT	0.612													False	0	True	22:21335305	0	A	21335305	G	A	21335305	2	1	88	1	0	0	0	0	0	0	0	1	428	1103	39	1		1	AIFM3	22	21335305	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4309	21335305	29969261	19990	27702											
LZTR1	8216	broad.mit.edu	37	chr22	21345925	21345925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtacccccaggtggacacGcatcccaactgaacacctgc	9	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21345925G>A	ENST00000215739.8	+	9	1159	c.800G>A	c.(799-801)cGc>cAc	p.R267H	LZTR1_ENST00000389355.3_Missense_Mutation_p.R248H|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	267					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.R267H(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGGTGGACACGCATCCCAACT	0.652													False	0	False	22:21345925	0	A	21345925	G	A	21345925	3	1	88	1	0	0	0	0	1	0	0	0	9200	1087	38	1	834	1	LZTR1	22	21345925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10620	21345925	29958641	19991	27703											
THAP7	80764	broad.mit.edu	37	chr22	21354375	21354375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggctgcctcggctcgccGcttccagagtaaggcgctgc	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21354375G>A	ENST00000215742.4	-	4	898	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	THAP7_ENST00000399133.2_Missense_Mutation_p.R242W	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	242					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCGGCTCGCCGCTTCCAGAGT	0.657													False	0	False	22:21354375	0	A	21354375	G	A	21354375	3	1	88	1	0	0	0	0	1	0	0	0	15931	1086	38	1	209	1	THAP7	22	21354375	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8450	21354375	29950191	19992	27704											
P2RX6	9127	broad.mit.edu	37	chr22	21380774	21380774	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgcatcccaagcccgActggccgagtgcctcagacg	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21380774A>G	ENST00000413302.2	+	12	1342	c.1194A>G	c.(1192-1194)cgA>cgG	p.R398R	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Silent_p.R345R|P2RX6_ENST00000336296.2_Silent_p.R388R|P2RX6_ENST00000401443.1_Silent_p.R372R			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	398					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										CCCAAGCCCGACTGGCCGAGT	0.632													False	0	False	22:21380774	0	G	21380774	A	G	21380774	2	3	88	1	0	0	0	0	0	0	0	1	11412	262	10	4		4	P2RX6	22	21380774	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26399	21380774	29923792	19993	27705											
SLC7A4	6545	broad.mit.edu	37	chr22	21385522	21385522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgagaaggtgtgattgaGccaggaggacacgcgggctc	18	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21385522G>T	ENST00000382932.2	-	2	647	c.580C>A	c.(580-582)Ctc>Atc	p.L194I	SLC7A4_ENST00000403586.1_Missense_Mutation_p.L194I	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	194					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGTGATTGAGCCAGGAGGAC	0.612													False	0	False	22:21385522	0	T	21385522	G	T	21385522	3	4	88	1	0	0	0	0	1	0	0	0	14779	971	34	3	1343	3	SLC7A4	22	21385522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4748	21385522	29919044	19994	27706											
HIC2	23119	broad.mit.edu	37	chr22	21800714	21800714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcaagtgttcggtctgCgagaagacctacaaggaccc	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21800714C>T	ENST00000443632.2	+	2	1902	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	HIC2_ENST00000407464.2_Silent_p.C510C|HIC2_ENST00000407598.2_Silent_p.C510C			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	510					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GTTCGGTCTGCGAGAAGACCT	0.642													False	0	False	22:21800714	0	T	21800714	C	T	21800714	2	4	88	1	0	0	0	0	0	0	0	1	7149	776	27	1		1	HIC2	22	21800714	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415192	21800714	29503852	19995	27707											
HIC2	23119	broad.mit.edu	37	chr22	21800868	21800868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgggcctgaagcccttcGcctgcgatgagtgtggcatg	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21800868G>A	ENST00000443632.2	+	2	2056	c.1684G>A	c.(1684-1686)Gcc>Acc	p.A562T	HIC2_ENST00000407464.2_Missense_Mutation_p.A562T|HIC2_ENST00000407598.2_Missense_Mutation_p.A562T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	562					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAAGCCCTTCGCCTGCGATGA	0.632													False	0	False	22:21800868	0	A	21800868	G	A	21800868	3	1	88	1	0	0	0	0	1	0	0	0	7149	1087	38	1	1690	1	HIC2	22	21800868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154	21800868	29503698	19996	27708											
CCDC116	164592	broad.mit.edu	37	chr22	21988516	21988516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagacagtggtggagaaggCgactgagcgcatggctgcca	18	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21988516C>T	ENST00000292779.3	+	3	439	c.278C>T	c.(277-279)gCg>gTg	p.A93V	CCDC116_ENST00000607942.1_Missense_Mutation_p.A93V	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	93								p.A93V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GTGGAGAAGGCGACTGAGCGC	0.622													False	0	False	22:21988516	0	T	21988516	C	T	21988516	3	4	88	1	0	0	0	0	1	0	0	0	2773	768	27	1	284	1	CCDC116	22	21988516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187648	21988516	29316050	19997	27709											
SDF2L1	23753	broad.mit.edu	37	chr22	21998296	21998296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcttccagcatgtgggCacctctgtgttcctgtcagt	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21998296C>T	ENST00000248958.4	+	3	574	c.498C>T	c.(496-498)ggC>ggT	p.G166G		NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1	166	MIR 3.					endoplasmic reticulum lumen|membrane				prostate(1)	1	Colorectal(54;0.105)					AGCATGTGGGCACCTCTGTGT	0.622											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	22:21998296	0	T	21998296	C	T	21998296	2	4	88	1	0	0	0	0	0	0	0	1	14042	697	25	2		2	SDF2L1	22	21998296	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9780	21998296	29306270	19998	27710											
PPIL2	23759	broad.mit.edu	37	chr22	22039067	22039067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaggccaaacaggacccGtcttattatctgaaaaatac	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22039067G>A	ENST00000335025.8	+	10	670	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PPIL2_ENST00000412327.1_Silent_p.P193P|PPIL2_ENST00000492445.2_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P|PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000406385.1_Silent_p.P193P			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2						blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	p.P193P(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAGGACCCGTCTTATTATC	0.547													False	0	True	22:22039067	0	A	22039067	G	A	22039067	2	1	88	1	0	0	0	0	0	0	0	1	12401	1132	40	1		1	PPIL2	22	22039067	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40771	22039067	29265499	19999	27711											
VPREB1	7441	broad.mit.edu	37	chr22	22599398	22599398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatcagccgccggccatGtcctcggcccttggaaccac	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22599398G>A	ENST00000403807.3	+	2	226	c.87G>A	c.(85-87)atG>atA	p.M29I	VPREB1_ENST00000302273.2_Missense_Mutation_p.M28I			P12018	VPREB_HUMAN	pre-B lymphocyte 1	29	Framework-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CGCCGGCCATGTCCTCGGCCC	0.642													False	0	False	22:22599398	0	A	22599398	G	A	22599398	3	1	88	1	0	0	0	0	1	0	0	0	17270	1377	48	2	93	2	VPREB1	22	22599398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	560331	22599398	28705168	20000	27712											
ZNF280A	129025	broad.mit.edu	37	chr22	22868833	22868833	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagaggacctgatctgtTtcaaatgacaattcacagat	8	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22868833T>G	ENST00000302097.3	-	2	1374	c.1122A>C	c.(1120-1122)gaA>gaC	p.E374D		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCTGATCTGTTTCAAATGACA	0.488													False	0	True	22:22868833	0	G	22868833	T	G	22868833	3	3	88	1	0	0	0	0	1	0	0	0	17897	1838	64	4	510	4	ZNF280A	22	22868833	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	269435	22868833	28435733	20001	27713											
GGTLC2	91227	broad.mit.edu	37	chr22	22989491	22989491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgtgcccgacgatcatgGtgggccaggacggccaggtc	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22989491G>A	ENST00000448514.1	+	3	343	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	GGTLC2_ENST00000480559.1_Missense_Mutation_p.V115M			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	115					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		GACGATCATGGTGGGCCAGGA	0.647													False	0	False	22:22989491	0	A	22989491	G	A	22989491	3	1	88	1	0	0	0	0	1	0	0	0	6411	1261	44	2	353	2	GGTLC2	22	22989491	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120658	22989491	28315075	20002	27714											
GNAZ	2781	broad.mit.edu	37	chr22	23465529	23465529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactcccacttcacctgcGccaccgacaccagtaacatc	4	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23465529G>A	ENST00000248996.4	+	3	1645	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	327						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CTTCACCTGCGCCACCGACAC	0.542													False	0	False	22:23465529	0	A	23465529	G	A	23465529	3	1	88	1	0	0	0	0	1	0	0	0	6559	1087	38	1	985	1	GNAZ	22	23465529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	476038	23465529	27839037	20003	27715											
RAB36	9609	broad.mit.edu	37	chr22	23488872	23488872	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcgccagcttccctaaGgtagagagtcattacgtctg	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23488872G>T	ENST00000263116.2	+	2	307	c.267G>T	c.(265-267)aaG>aaT	p.K89N	RAB36_ENST00000341989.4_Splice_Site_p.K89N	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	89					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GCTTCCCTAAGGTAGAGAGTC	0.572													False	0	False	22:23488872	0	T	23488872	G	T	23488872	5	4	88	1	0	0	0	0	0	0	1	0	13005	1014	35	3	273	3	RAB36	22	23488872	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23343	23488872	27815694	20004	27716											
RAB36	9609	broad.mit.edu	37	chr22	23495220	23495220	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcctcatcccccacagGttttgcaagaatgtttttga	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23495220G>A	ENST00000263116.2	+	5	466	c.426G>A	c.(424-426)agG>agA	p.R142R	RAB36_ENST00000341989.4_Splice_Site_p.G120G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	142					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCCCCCACAGGTTTTGCAAGA	0.478													False	0	True	22:23495220	0	A	23495220	G	A	23495220	5	1	88	1	0	0	0	0	0	0	1	0	13005	1275	44	2	444	2	RAB36	22	23495220	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6348	23495220	27809346	20005	27717											
RGL4	266747	broad.mit.edu	37	chr22	24034358	24034358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacagccctgctgtatggCcaggtctgccccttccagga	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24034358C>T	ENST00000290691.5	+	1	1311	c.141C>T	c.(139-141)ggC>ggT	p.G47G	GUSBP11_ENST00000455485.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA|RGL4_ENST00000401461.1_Intron|AP000347.2_ENST00000417194.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	47					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGCTGTATGGCCAGGTCTGCC	0.632													False	0	False	22:24034358	0	T	24034358	C	T	24034358	2	4	88	1	0	0	0	0	0	0	0	1	13358	726	26	2		2	RGL4	22	24034358	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	539138	24034358	27270208	20006	27718											
ZNF70	7621	broad.mit.edu	37	chr22	24086756	24086756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgtagggcttctccccgGtgtggatgatctggtgcctg	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24086756G>A	ENST00000341976.3	-	2	1032	c.572C>T	c.(571-573)aCc>aTc	p.T191I		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	191						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CTTCTCCCCGGTGTGGATGAT	0.617													False	0	False	22:24086756	0	A	24086756	G	A	24086756	3	1	88	1	0	0	0	0	1	0	0	0	18186	1261	44	2	772	2	ZNF70	22	24086756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52398	24086756	27217810	20007	27719											
VPREB3	29802	broad.mit.edu	37	chr22	24095296	24095296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtagtccctgatggtgaCgtgctgggggctgagcgtgc	17	10	0	3	rs146725149	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24095296C>T	ENST00000248948.3	-	2	243	c.139G>A	c.(139-141)Gtc>Atc	p.V47I	VPREB3_ENST00000398465.3_Missense_Mutation_p.V31I	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3	47	Ig-like.					endoplasmic reticulum				large_intestine(1)|lung(1)|skin(1)	3		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				CTGATGGTGACGTGCTGGGGG	0.632													False	0	False	22:24095296	0	T	24095296	C	T	24095296	3	4	88	1	0	0	0	0	1	0	0	0	17271	536	19	1	236	1	VPREB3	22	24095296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8540	24095296	27209270	20008	27720											
MMP11	4320	broad.mit.edu	37	chr22	24123083	24123083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagcccatgaatttggCcacgtgctggggctgcagca	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24123083C>T	ENST00000215743.3	+	5	706	c.654C>T	c.(652-654)ggC>ggT	p.G218G	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	218					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				ATGAATTTGGCCACGTGCTGG	0.612													False	0	False	22:24123083	0	T	24123083	C	T	24123083	2	4	88	1	0	0	0	0	0	0	0	1	9717	726	26	2		2	MMP11	22	24123083	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27787	24123083	27181483	20009	27721											
SMARCB1	6598	broad.mit.edu	37	chr22	24176329	24176329	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccactcctcttccaggCggatgaggcgtcttgccaac	9	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24176329C>T	ENST00000344921.6	+	9	1354	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	SMARCB1_ENST00000407422.3_Splice_Site_p.R365W|SMARCB1_ENST00000407082.3_Splice_Site_p.R328W|SMARCB1_ENST00000263121.7_Splice_Site_p.R374W			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	374					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTCTTCCAGGCGGATGAGGCG	0.657			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							False	0	False	22:24176329	0	T	24176329	C	T	24176329	5	4	88	1	0	0	0	0	0	0	1	0	14854	782	27	1	1154	1	SMARCB1	22	24176329	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53246	24176329	27128237	20010	27722											
DERL3	91319	broad.mit.edu	37	chr22	24177042	24177042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccgcgagctctcctgccGtccctgggccgccctggctc	13	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24177042G>A	ENST00000406855.3	-	7	710	c.692C>T	c.(691-693)aCg>aTg	p.T231M	DERL3_ENST00000464023.1_5'UTR|DERL3_ENST00000404056.1_3'UTR	NM_001002862.2|NM_001135751.1|NM_198440.3	NP_001002862.1|NP_001129223.1|NP_940842.2	Q96Q80	DERL3_HUMAN	derlin 3	0					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						CTCTCCTGCCGTCCCTGGGCC	0.652													False	0	False	22:24177042	0	A	24177042	G	A	24177042	3	1	88	1	0	0	0	0	1	0	0	0	4478	1145	40	1	31	1	DERL3	22	24177042	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	713	24177042	27127524	20011	27723											
DERL3	91319	broad.mit.edu	37	chr22	24179333	24179333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtagtagatatggcccaCcgcaatccctgtgagacagc	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24179333C>T	ENST00000404056.1	-	5	469	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	DERL3_ENST00000406855.3_Missense_Mutation_p.V178M|DERL3_ENST00000476077.1_Missense_Mutation_p.V178M|DERL3_ENST00000318109.7_Missense_Mutation_p.V178M			Q96Q80	DERL3_HUMAN	derlin 3	178					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						ATATGGCCCACCGCAATCCCT	0.627													False	0	False	22:24179333	0	T	24179333	C	T	24179333	3	4	88	1	0	0	0	0	1	0	0	0	4478	507	18	2	297	2	DERL3	22	24179333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2291	24179333	27125233	20012	27724											
CABIN1	23523	broad.mit.edu	37	chr22	24455729	24455729	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaagatgattccttTaataactatgaagtccagtc	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24455729T>C	ENST00000398319.2	+	11	1687	c.1302T>C	c.(1300-1302)ttT>ttC	p.F434F	CABIN1_ENST00000263119.5_Silent_p.F434F|CABIN1_ENST00000405822.2_Silent_p.F384F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	434					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGATTCCTTTAATAACTATG	0.443													False	0	True	22:24455729	0	C	24455729	T	C	24455729	2	2	88	1	0	0	0	0	0	0	0	1	2548	1751	61	4		4	CABIN1	22	24455729	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	276396	24455729	26848837	20013	27725											
CABIN1	23523	broad.mit.edu	37	chr22	24456585	24456585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacccgctgctgagggactGcagcaacaagcacatcaagg	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24456585G>A	ENST00000398319.2	+	12	1983	c.1598G>A	c.(1597-1599)tGc>tAc	p.C533Y	CABIN1_ENST00000263119.5_Missense_Mutation_p.C533Y|CABIN1_ENST00000405822.2_Missense_Mutation_p.C483Y	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	533					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAGGGACTGCAGCAACAAG	0.622													False	0	False	22:24456585	0	A	24456585	G	A	24456585	3	1	88	1	0	0	0	0	1	0	0	0	2548	1319	46	2	1640	2	CABIN1	22	24456585	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	856	24456585	26847981	20014	27726											
CABIN1	23523	broad.mit.edu	37	chr22	24480696	24480696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagaggccagcccttagCctggacaaagtctctgccta	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24480696C>T	ENST00000398319.2	+	21	3460	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	CABIN1_ENST00000263119.5_Silent_p.S1025S|CABIN1_ENST00000405822.2_Silent_p.S975S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1025					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGCCCTTAGCCTGGACAAAG	0.552													False	0	False	22:24480696	0	T	24480696	C	T	24480696	2	4	88	1	0	0	0	0	0	0	0	1	2548	738	26	2		2	CABIN1	22	24480696	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24111	24480696	26823870	20015	27727											
CABIN1	23523	broad.mit.edu	37	chr22	24509677	24509677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagttcccaagcaggagCgacgggtaaagatcttcagg	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24509677C>T	ENST00000398319.2	+	27	4647	c.4262C>T	c.(4261-4263)gCg>gTg	p.A1421V	CABIN1_ENST00000263119.5_Missense_Mutation_p.A1421V|CABIN1_ENST00000405822.2_Missense_Mutation_p.A1342V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1421					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAAGCAGGAGCGACGGGTAAA	0.507													False	0	False	22:24509677	0	T	24509677	C	T	24509677	3	4	88	1	0	0	0	0	1	0	0	0	2548	768	27	1	4364	1	CABIN1	22	24509677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28981	24509677	26794889	20016	27728											
CABIN1	23523	broad.mit.edu	37	chr22	24561582	24561582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcgaagacacgctgagCgagctcgcagaggtatgcca	14	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24561582C>T	ENST00000398319.2	+	31	5380	c.4995C>T	c.(4993-4995)agC>agT	p.S1665S	CABIN1_ENST00000263119.5_Silent_p.S1665S|CABIN1_ENST00000337989.7_Silent_p.S90S|CABIN1_ENST00000405822.2_Silent_p.S1586S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1665					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACACGCTGAGCGAGCTCGCAG	0.617													False	0	True	22:24561582	0	T	24561582	C	T	24561582	2	4	88	1	0	0	0	0	0	0	0	1	2548	767	27	1		1	CABIN1	22	24561582	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51905	24561582	26742984	20017	27729											
SUSD2	56241	broad.mit.edu	37	chr22	24583229	24583229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgctggcatcaggggccGgcctggaggtcagcgtgcag	17	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24583229G>A	ENST00000358321.3	+	11	1963	c.1702G>A	c.(1702-1704)Ggc>Agc	p.G568S		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	568	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ATCAGGGGCCGGCCTGGAGGT	0.642													False	0	True	22:24583229	0	A	24583229	G	A	24583229	3	1	88	1	0	0	0	0	1	0	0	0	15490	1116	39	1	1744	1	SUSD2	22	24583229	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21647	24583229	26721337	20018	27730											
SUSD2	56241	broad.mit.edu	37	chr22	24583271	24583271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgttcctgagtgtgtccGtcctgctgcctgagaagttc	12	13	0	2	rs116324909	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24583271G>A	ENST00000358321.3	+	11	2005	c.1744G>A	c.(1744-1746)Gtc>Atc	p.V582I		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	582	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GAGTGTGTCCGTCCTGCTGCC	0.657													False	0	True	22:24583271	0	A	24583271	G	A	24583271	3	1	88	1	0	0	0	0	1	0	0	0	15490	1145	40	1	1786	1	SUSD2	22	24583271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	24583271	26721295	20019	27731											
GGT5	2687	broad.mit.edu	37	chr22	24622114	24622114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagacacatgggacgtgcCtgtcccgtggccccaggcct	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24622114C>T	ENST00000327365.4	-	8	1575	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	GGT5_ENST00000418439.2_Missense_Mutation_p.G310S|GGT5_ENST00000263112.7_Missense_Mutation_p.G355S|GGT5_ENST00000398292.3_Missense_Mutation_p.G387S	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	387					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGGACGTGCCTGTCCCGTGG	0.692													False	0	False	22:24622114	0	T	24622114	C	T	24622114	3	4	88	1	0	0	0	0	1	0	0	0	6407	681	24	2	624	2	GGT5	22	24622114	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38843	24622114	26682452	20020	27732											
GGT5	2687	broad.mit.edu	37	chr22	24622171	24622171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagctggtggtccccccGgccatcgatctgttggcgga	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24622171G>A	ENST00000327365.4	-	8	1518	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	GGT5_ENST00000418439.2_Missense_Mutation_p.R291W|GGT5_ENST00000263112.7_Missense_Mutation_p.R336W|GGT5_ENST00000398292.3_Missense_Mutation_p.R368W	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	368					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGTCCCCCCGGCCATCGATC	0.697													False	0	True	22:24622171	0	A	24622171	G	A	24622171	3	1	88	1	0	0	0	0	1	0	0	0	6407	1115	39	1	681	1	GGT5	22	24622171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57	24622171	26682395	20021	27733											
ADORA2A	135	broad.mit.edu	37	chr22	24829461	24829461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgtgctggtgtgctgggCcgtgtggctcaacagcaacc	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24829461C>T	ENST00000337539.7	+	2	548	c.89C>T	c.(88-90)gCc>gTc	p.A30V	ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_Intron|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	30					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GTGTGCTGGGCCGTGTGGCTC	0.617													False	0	True	22:24829461	0	T	24829461	C	T	24829461	3	4	88	1	0	0	0	0	1	0	0	0	327	739	26	2	91	2	ADORA2A	22	24829461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207290	24829461	26475105	20022	27734											
UPB1	51733	broad.mit.edu	37	chr22	24891453	24891453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgcaggaagtgaagcgcGttctctatggcaaggaactc	12	9	1	1	rs141896929	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24891453G>A	ENST00000413389.2	+	2	1643	c.50G>A	c.(49-51)cGt>cAt	p.R17H	UPB1_ENST00000382760.2_Missense_Mutation_p.V28I|UPB1_ENST00000326010.5_Missense_Mutation_p.V28I			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	0					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					AGTGAAGCGCGTTCTCTATGG	0.637													False	0	False	22:24891453	0	A	24891453	G	A	24891453	3	1	88	1	0	0	0	0	1	0	0	0	17086	1145	40	1	84	1	UPB1	22	24891453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61992	24891453	26413113	20023	27735											
UPB1	51733	broad.mit.edu	37	chr22	24898122	24898122	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatagacgcataaaggCtatcgtagaggtggctgcaa	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24898122C>A	ENST00000413389.2	+	3	1694	c.101C>A	c.(100-102)gCt>gAt	p.A34D	UPB1_ENST00000382760.2_Missense_Mutation_p.A102D|UPB1_ENST00000326010.5_Missense_Mutation_p.A102D			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	102					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CGCATAAAGGCTATCGTAGAG	0.408													False	0	False	22:24898122	0	A	24898122	C	A	24898122	3	1	88	1	0	0	0	0	1	0	0	0	17086	797	28	3	315	3	UPB1	22	24898122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6669	24898122	26406444	20024	27736											
GGT1	2678	broad.mit.edu	37	chr22	25007192	25007192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggccgcggatgccaaGcagtgctcgaagattgggag	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25007192G>A	ENST00000400382.1	+	5	899	c.144G>A	c.(142-144)aaG>aaA	p.K48K	GGT1_ENST00000400383.1_Silent_p.K48K|GGT1_ENST00000400380.1_Silent_p.K48K|GGT1_ENST00000248923.4_Silent_p.K48K|GGT1_ENST00000406383.2_Silent_p.K48K			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	48					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CGGATGCCAAGCAGTGCTCGA	0.607													False	0	False	22:25007192	0	A	25007192	G	A	25007192	2	1	88	1	0	0	0	0	0	0	0	1	6406	962	34	2		2	GGT1	22	25007192	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109070	25007192	26297374	20025	27737											
PIWIL3	440822	broad.mit.edu	37	chr22	25131759	25131759	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatggcttctctgtgactgCtcctgctatagagtatgagc	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25131759C>A	ENST00000332271.5	-	13	1966	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	PIWIL3_ENST00000533313.1_Missense_Mutation_p.S408I|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.S408I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	517					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCTGTGACTGCTCCTGCTATA	0.428													False	0	False	22:25131759	0	A	25131759	C	A	25131759	3	1	88	1	0	0	0	0	1	0	0	0	12028	797	28	3	1134	3	PIWIL3	22	25131759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124567	25131759	26172807	20026	27738											
PIWIL3	440822	broad.mit.edu	37	chr22	25144975	25144975	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagttgaagtaactctcGtacttttttattactgaaaa	6	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25144975G>A	ENST00000332271.5	-	12	1764	c.1348C>T	c.(1348-1350)Cga>Tga	p.R450*	PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.R341*|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.R341*	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	450					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTAACTCTCGTACTTTTTTA	0.353													False	0	False	22:25144975	0	A	25144975	G	A	25144975	4	1	88	1	0	0	0	0	0	1	0	0	12028	1153	40	1	1340	1	PIWIL3	22	25144975	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13216	25144975	26159591	20027	27739											
SGSM1	129049	broad.mit.edu	37	chr22	25251355	25251355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaccgcatccacagctcCcacgtgcggcaggactcgcc	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25251355C>T	ENST00000400358.4	+	7	684	c.627C>T	c.(625-627)tcC>tcT	p.S209S	SGSM1_ENST00000400359.4_Silent_p.S209S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	209						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCCACAGCTCCCACGTGCGGC	0.622													False	0	True	22:25251355	0	T	25251355	C	T	25251355	2	4	88	1	0	0	0	0	0	0	0	1	14303	610	22	2		2	SGSM1	22	25251355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106380	25251355	26053211	20028	27740											
SGSM1	129049	broad.mit.edu	37	chr22	25251633	25251633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctatggcaaaaacaacGttcttgttcagccggtgaga	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25251633G>A	ENST00000400358.4	+	8	844	c.787G>A	c.(787-789)Gtt>Att	p.V263I	SGSM1_ENST00000400359.4_Missense_Mutation_p.V263I	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	263						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAAAAACAACGTTCTTGTTCA	0.552													False	0	False	22:25251633	0	A	25251633	G	A	25251633	3	1	88	1	0	0	0	0	1	0	0	0	14303	1145	40	1	817	1	SGSM1	22	25251633	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	25251633	26052933	20029	27741											
TMEM211	255349	broad.mit.edu	37	chr22	25331516	25331516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttccttgatgaatggggaGgcaaggccgattgggaaaat	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25331516G>A	ENST00000407886.1	-	4	426	c.174C>T	c.(172-174)gcC>gcT	p.A58A	TMEM211_ENST00000382744.1_Silent_p.A58A|TMEM211_ENST00000423535.1_Silent_p.A129A			Q6ICI0	TM211_HUMAN	transmembrane protein 211	129						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGAATGGGGAGGCAAGGCCGA	0.522													False	0	False	22:25331516	0	A	25331516	G	A	25331516	2	1	88	1	0	0	0	0	0	0	0	1	16217	987	35	2		2	TMEM211	22	25331516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79883	25331516	25973050	20030	27742											
CRYBB3	1417	broad.mit.edu	37	chr22	25601329	25601329	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccgtgccatcaacgggaCgtaagggacccaaccctcac	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25601329C>T	ENST00000215855.2	+	5	550	c.470C>T	c.(469-471)aCg>aTg	p.T157M	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	157	Beta/gamma crystallin 'Greek key' 4.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						ATCAACGGGACGTAAGGGACC	0.532													False	0	False	22:25601329	0	T	25601329	C	T	25601329	5	4	88	1	0	0	0	0	0	0	1	0	3935	550	19	1	484	1	CRYBB3	22	25601329	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	269813	25601329	25703237	20031	27743											
CRYBB2	1415	broad.mit.edu	37	chr22	25625529	25625529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaaggtgtcatctgtgCgggtgcagagtggcacgtaa	17	6	2	2	rs2330991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25625529C>T	ENST00000398215.2	+	5	604	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	145	Beta/gamma crystallin 'Greek key' 3.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GTCATCTGTGCGGGTGCAGAG	0.567													False	0	True	22:25625529	0	T	25625529	C	T	25625529	3	4	88	1	0	0	0	0	1	0	0	0	3934	759	27	1	447	1	CRYBB2	22	25625529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24200	25625529	25679037	20032	27744											
CRYBB2	1415	broad.mit.edu	37	chr22	25627693	25627693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtccgtgcgccgtatccGcgacatgcagtggcaccaac	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25627693G>A	ENST00000398215.2	+	6	743	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	191	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CGCCGTATCCGCGACATGCAG	0.652													False	0	False	22:25627693	0	A	25627693	G	A	25627693	3	1	88	1	0	0	0	0	1	0	0	0	3934	1087	38	1	590	1	CRYBB2	22	25627693	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2164	25627693	25676873	20033	27745											
LRP5L	91355	broad.mit.edu	37	chr22	25747794	25747794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaggccctagatggggcaGccaaaccgggttgtgtgggg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25747794G>T	ENST00000402859.2	-	6	1254	c.731C>A	c.(730-732)gCt>gAt	p.A244D	LRP5L_ENST00000402785.2_Missense_Mutation_p.A244D|LRP5L_ENST00000444995.3_Intron	NM_001135772.1	NP_001129244.1	A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	244										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						AGATGGGGCAGCCAAACCGGG	0.582													False	0	False	22:25747794	0	T	25747794	G	T	25747794	3	4	88	1	0	0	0	0	1	0	0	0	9023	971	34	3	31	3	LRP5L	22	25747794	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120101	25747794	25556772	20034	27746											
LRP5L	91355	broad.mit.edu	37	chr22	25750768	25750768	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgcctcttcgtctcatcGacactgatcgcctgcagaat	8	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25750768G>A	ENST00000444995.3	-	6	1150	c.450C>T	c.(448-450)gtC>gtT	p.V150V	LRP5L_ENST00000402785.2_Silent_p.V150V|LRP5L_ENST00000402859.2_Silent_p.V150V			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	150								p.V150V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCGTCTCATCGACACTGATCG	0.607													False	0	False	22:25750768	0	A	25750768	G	A	25750768	2	1	88	1	0	0	0	0	0	0	0	1	9023	1045	37	1		1	LRP5L	22	25750768	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2974	25750768	25553798	20035	27747											
ADRBK2	157	broad.mit.edu	37	chr22	26107046	26107046	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttccagtacccaccaccCttgattcctccccggggaga	7	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26107046C>A	ENST00000324198.6	+	17	1599	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2		AGC-kinase C-terminal.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ACCCACCACCCTTGATTCCTC	0.463													False	0	True	22:26107046	0	A	26107046	C	A	26107046	2	1	88	1	0	0	0	0	0	0	0	1	344	668	24	3		3	ADRBK2	22	26107046	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356278	26107046	25197520	20036	27748											
MYO18B	84700	broad.mit.edu	37	chr22	26157081	26157081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccatctcatcacgcctcGccctgtgggagcagaaggaa	12	13	2	1	rs139296373	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26157081G>A	ENST00000335473.7	+	2	272	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	MYO18B_ENST00000407587.2_Missense_Mutation_p.A8T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A8T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	8						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.A8T(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATCACGCCTCGCCCTGTGGGA	0.592													False	0	True	22:26157081	0	A	26157081	G	A	26157081	3	1	88	1	0	0	0	0	1	0	0	0	10133	1087	38	1	24	1	MYO18B	22	26157081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50035	26157081	25147485	20037	27749											
MYO18B	84700	broad.mit.edu	37	chr22	26165028	26165028	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgagcttcggagcacgaCtgggaaggcaggtgagtcct	17	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26165028C>A	ENST00000335473.7	+	4	1395	c.1145C>A	c.(1144-1146)aCt>aAt	p.T382N	MYO18B_ENST00000407587.2_Missense_Mutation_p.T382N|MYO18B_ENST00000536101.1_Missense_Mutation_p.T382N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	382						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGAGCACGACTGGGAAGGCA	0.587													False	0	False	22:26165028	0	A	26165028	C	A	26165028	3	1	88	1	0	0	0	0	1	0	0	0	10133	565	20	3	1155	3	MYO18B	22	26165028	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7947	26165028	25139538	20038	27750											
MYO18B	84700	broad.mit.edu	37	chr22	26224921	26224921	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctttgtctccacgctaCagcgatatcaagaggtatgc	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26224921C>T	ENST00000335473.7	+	15	3215	c.2965C>T	c.(2965-2967)Cag>Tag	p.Q989*	MYO18B_ENST00000407587.2_Nonsense_Mutation_p.Q989*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q989*	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	989	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCCACGCTACAGCGATATCA	0.602													False	0	False	22:26224921	0	T	26224921	C	T	26224921	4	4	88	1	0	0	0	0	0	1	0	0	10133	479	17	2	3019	2	MYO18B	22	26224921	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59893	26224921	25079645	20039	27751											
MYO18B	84700	broad.mit.edu	37	chr22	26346384	26346384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctgcagctggaggaaGccaagaaggagaagcacaag	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26346384G>A	ENST00000335473.7	+	37	6050	c.5800G>A	c.(5800-5802)Gcc>Acc	p.A1934T	MYO18B_ENST00000407587.2_Missense_Mutation_p.A1935T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1934T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1934	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTGGAGGAAGCCAAGAAGGA	0.438													False	0	False	22:26346384	0	A	26346384	G	A	26346384	3	1	88	1	0	0	0	0	1	0	0	0	10133	971	34	2	5942	2	MYO18B	22	26346384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121463	26346384	24958182	20040	27752											
MYO18B	84700	broad.mit.edu	37	chr22	26399271	26399271	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggcagcagcggccgaaaaGagatgtaagttaaccccagg	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26399271G>A	ENST00000335473.7	+	41	6578	c.6328G>A	c.(6328-6330)Gag>Aag	p.E2110K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E2111K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2110K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2110						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.E2111Q(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGCCGAAAAGAGATGTAAGT	0.542													False	0	True	22:26399271	0	A	26399271	G	A	26399271	3	1	88	1	0	0	0	0	1	0	0	0	10133	943	33	2	6486	2	MYO18B	22	26399271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52887	26399271	24905295	20041	27753											
MYO18B	84700	broad.mit.edu	37	chr22	26423431	26423431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attttgaagaagagcccggaGcccaaggaggatcccgctca	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26423431G>T	ENST00000335473.7	+	43	7741	c.7491G>T	c.(7489-7491)gaG>gaT	p.E2497D	MYO18B_ENST00000407587.2_Missense_Mutation_p.E2498D|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2497D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2497						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGAGCCCGGAGCCCAAGGAGG	0.537													False	0	True	22:26423431	0	T	26423431	G	T	26423431	3	4	88	1	0	0	0	0	1	0	0	0	10133	962	34	3	7657	3	MYO18B	22	26423431	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24160	26423431	24881135	20042	27754											
SEZ6L	23544	broad.mit.edu	37	chr22	26761510	26761510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagccatcccactggaaCgggcccctgcccgtgtgtaa	12	15	0	0	rs149968977		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26761510C>T	ENST00000529632.2	+	13	2968	c.2772C>T	c.(2770-2772)aaC>aaT	p.N924N	SEZ6L_ENST00000404234.3_Silent_p.N924N|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000402979.1_Silent_p.N697N|SEZ6L_ENST00000360929.3_Silent_p.N860N|SEZ6L_ENST00000411842.2_Silent_p.N121N|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000248933.6_Silent_p.N924N	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	924	Sushi 5.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCACTGGAACGGGCCCCTGC	0.577													False	0	True	22:26761510	0	T	26761510	C	T	26761510	2	4	88	1	0	0	0	0	0	0	0	1	14224	535	19	1		1	SEZ6L	22	26761510	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338079	26761510	24543056	20043	27755											
ASPHD2	57168	broad.mit.edu	37	chr22	26830336	26830336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgcccacggacgtaccGcttgctcggaagccttcgga	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26830336G>A	ENST00000215906.5	+	2	1193	c.755G>A	c.(754-756)cGc>cAc	p.R252H		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	252					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CGGACGTACCGCTTGCTCGGA	0.537													False	0	False	22:26830336	0	A	26830336	G	A	26830336	3	1	88	1	0	0	0	0	1	0	0	0	1059	1087	38	1	757	1	ASPHD2	22	26830336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68826	26830336	24474230	20044	27756											
ASPHD2	57168	broad.mit.edu	37	chr22	26838423	26838423	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctctggttttcctacaAggtctgaaaactccaaatgg	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26838423A>G	ENST00000215906.5	+	3	1324		c.e3-1			NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2						peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTCCTACAAGGTCTGAAAA	0.517													False	0	False	22:26838423	0	G	26838423	A	G	26838423	5	3	88	1	0	0	0	0	0	0	1	0	1059	86	3	4	891	4	ASPHD2	22	26838423	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8087	26838423	24466143	20045	27757											
HPS4	89781	broad.mit.edu	37	chr22	26854526	26854526	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttccagcccattcagtgaAgccaggctgctgtggtactg	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26854526A>C	ENST00000398145.2	-	12	2347	c.1731T>G	c.(1729-1731)gcT>gcG	p.A577A	HPS4_ENST00000402105.3_Silent_p.A572A|HPS4_ENST00000336873.5_Silent_p.A577A|HPS4_ENST00000398141.1_Silent_p.A590A|HPS4_ENST00000493455.2_5'UTR	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	577					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CATTCAGTGAAGCCAGGCTGC	0.552									Hermansky-Pudlak syndrome				False	0	False	22:26854526	0	C	26854526	A	C	26854526	2	2	88	1	0	0	0	0	0	0	0	1	7388	59	3	4		4	HPS4	22	26854526	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16103	26854526	24450040	20046	27758											
HPS4	89781	broad.mit.edu	37	chr22	26859939	26859939	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcagccagcagggacaGcaccagccctttgacgcagt	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26859939G>T	ENST00000398145.2	-	11	2273	c.1657C>A	c.(1657-1659)Ctg>Atg	p.L553M	HPS4_ENST00000402105.3_Missense_Mutation_p.L548M|HPS4_ENST00000336873.5_Missense_Mutation_p.L553M|HPS4_ENST00000398141.1_Missense_Mutation_p.L566M|HPS4_ENST00000493455.2_5'UTR	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	553					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AGCAGGGACAGCACCAGCCCT	0.617									Hermansky-Pudlak syndrome				False	0	False	22:26859939	0	T	26859939	G	T	26859939	3	4	88	1	0	0	0	0	1	0	0	0	7388	962	34	3	485	3	HPS4	22	26859939	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5413	26859939	24444627	20047	27759											
HPS4	89781	broad.mit.edu	37	chr22	26860621	26860621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggccagacaagcatccGttctccttcctgccatctgg	8	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26860621G>A	ENST00000398145.2	-	11	1591	c.975C>T	c.(973-975)aaC>aaT	p.N325N	HPS4_ENST00000402105.3_Silent_p.N320N|HPS4_ENST00000336873.5_Silent_p.N325N|HPS4_ENST00000398141.1_Silent_p.N338N	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	325					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ACAAGCATCCGTTCTCCTTCC	0.597									Hermansky-Pudlak syndrome				False	0	False	22:26860621	0	A	26860621	G	A	26860621	2	1	88	1	0	0	0	0	0	0	0	1	7388	1136	40	1		1	HPS4	22	26860621	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	682	26860621	24443945	20048	27760											
HPS4	89781	broad.mit.edu	37	chr22	26861460	26861460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaactcgtggagactaatgGcttcctctttggtcacaaaa	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26861460G>T	ENST00000398145.2	-	10	1380	c.764C>A	c.(763-765)gCc>gAc	p.A255D	HPS4_ENST00000402105.3_Missense_Mutation_p.A250D|HPS4_ENST00000336873.5_Missense_Mutation_p.A255D|HPS4_ENST00000398141.1_Missense_Mutation_p.A268D	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	255					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GAGACTAATGGCTTCCTCTTT	0.512									Hermansky-Pudlak syndrome				False	0	False	22:26861460	0	T	26861460	G	T	26861460	3	4	88	1	0	0	0	0	1	0	0	0	7388	1203	42	3	1382	3	HPS4	22	26861460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	839	26861460	24443106	20049	27761											
SRRD	402055	broad.mit.edu	37	chr22	26887573	26887573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttcgggaagaaccagatTatcaggactgtgaggacctt	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26887573T>C	ENST00000215917.7	+	7	969	c.955T>C	c.(955-957)Tat>Cat	p.Y319H	TFIP11_ENST00000407690.1_3'UTR	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing						rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AGAACCAGATTATCAGGACTG	0.443													False	0	False	22:26887573	0	C	26887573	T	C	26887573	3	2	88	1	0	0	0	0	1	0	0	0	15249	1754	61	4	981	4	SRRD	22	26887573	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26113	26887573	24416993	20050	27762											
TFIP11	24144	broad.mit.edu	37	chr22	26888122	26888122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgtcgcttcccaatgaCgggcatgaagacaatgttgt	11	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26888122C>T	ENST00000407690.1	-	15	2654	c.2371G>A	c.(2371-2373)Gtc>Atc	p.V791I	TFIP11_ENST00000407431.1_Missense_Mutation_p.V791I|TFIP11_ENST00000407148.1_Missense_Mutation_p.V791I|TFIP11_ENST00000405938.1_Missense_Mutation_p.V791I|SRRD_ENST00000215917.7_3'UTR	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	791					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TTCCCAATGACGGGCATGAAG	0.562													False	0	True	22:26888122	0	T	26888122	C	T	26888122	3	4	88	1	0	0	0	0	1	0	0	0	15889	536	19	1	146	1	TFIP11	22	26888122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	549	26888122	24416444	20051	27763											
TFIP11	24144	broad.mit.edu	37	chr22	26902834	26902834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccaactctgcctcctcCgctgcccctttcttgagccc	5	20	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26902834C>T	ENST00000407690.1	-	5	553	c.270G>A	c.(268-270)gcG>gcA	p.A90A	TFIP11_ENST00000407431.1_Silent_p.A90A|TFIP11_ENST00000407148.1_Silent_p.A90A|TFIP11_ENST00000405938.1_Silent_p.A90A	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	90					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTGCCTCCTCCGCTGCCCCTT	0.517													False	0	False	22:26902834	0	T	26902834	C	T	26902834	2	4	88	1	0	0	0	0	0	0	0	1	15889	639	23	1		1	TFIP11	22	26902834	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14712	26902834	24401732	20052	27764											
TPST2	8459	broad.mit.edu	37	chr22	26937351	26937351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcatggcgcgcatcaaCgtggtgccactgcgaggcac	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26937351C>T	ENST00000338754.4	-	3	516	c.246G>A	c.(244-246)acG>acA	p.T82T	TPST2_ENST00000398110.2_Silent_p.T82T|TPST2_ENST00000403880.1_Silent_p.T82T	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	82					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGCGCATCAACGTGGTGCCAC	0.672													False	0	False	22:26937351	0	T	26937351	C	T	26937351	2	4	88	1	0	0	0	0	0	0	0	1	16511	523	19	1		1	TPST2	22	26937351	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34517	26937351	24367215	20053	27765											
CRYBA4	1413	broad.mit.edu	37	chr22	27021478	27021478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcatgctggcttccaaggGcagcagtacattctggaacg	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:27021478G>A	ENST00000354760.3	+	4	227	c.192G>A	c.(190-192)ggG>ggA	p.G64G	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	64	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCTTCCAAGGGCAGCAGTACA	0.617													False	0	True	22:27021478	0	A	27021478	G	A	27021478	2	1	88	1	0	0	0	0	0	0	0	1	3932	1190	42	2		2	CRYBA4	22	27021478	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84127	27021478	24283088	20054	27766											
MN1	4330	broad.mit.edu	37	chr22	28193583	28193583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttcccccgacggctgcGcctgacgcttgctgctgccc	12	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28193583G>A	ENST00000302326.4	-	1	3903	c.2949C>T	c.(2947-2949)ggC>ggT	p.G983G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	983							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGACGGCTGCGCCTGACGCTT	0.706			T	ETV6	"AML, meningioma"								False	0	False	22:28193583	0	A	28193583	G	A	28193583	2	1	88	1	0	0	0	0	0	0	0	1	9740	1074	38	1		1	MN1	22	28193583	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1172105	28193583	23110983	20055	27767											
MN1	4330	broad.mit.edu	37	chr22	28193973	28193973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttcctcttgccctctggCgggttcttcttgttgaaggt	11	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28193973C>T	ENST00000302326.4	-	1	3513	c.2559G>A	c.(2557-2559)ccG>ccA	p.P853P		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	853							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGCCCTCTGGCGGGTTCTTCT	0.652			T	ETV6	"AML, meningioma"								False	0	True	22:28193973	0	T	28193973	C	T	28193973	2	4	88	1	0	0	0	0	0	0	0	1	9740	755	27	1		1	MN1	22	28193973	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	390	28193973	23110593	20056	27768											
MN1	4330	broad.mit.edu	37	chr22	28195094	28195094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgattatccagagcgcCgttgtgcatgctgccgttcc	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28195094C>T	ENST00000302326.4	-	1	2392	c.1438G>A	c.(1438-1440)Ggc>Agc	p.G480S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	480							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCCAGAGCGCCGTTGTGCATG	0.682			T	ETV6	"AML, meningioma"								False	0	False	22:28195094	0	T	28195094	C	T	28195094	3	4	88	1	0	0	0	0	1	0	0	0	9740	652	23	1	2532	1	MN1	22	28195094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1121	28195094	23109472	20057	27769											
MN1	4330	broad.mit.edu	37	chr22	28196327	28196327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgcgcgcgtggaagcCgtagggctccatgttcatgc	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28196327C>T	ENST00000302326.4	-	1	1159	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	69							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGTGGAAGCCGTAGGGCTCC	0.701			T	ETV6	"AML, meningioma"								False	0	False	22:28196327	0	T	28196327	C	T	28196327	3	4	88	1	0	0	0	0	1	0	0	0	9740	652	23	1	3765	1	MN1	22	28196327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1233	28196327	23108239	20058	27770											
MN1	4330	broad.mit.edu	37	chr22	28196482	28196482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagttcctctcgccctggCcagcgttcctgctgttgacc	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28196482C>T	ENST00000302326.4	-	1	1004	c.50G>A	c.(49-51)gGc>gAc	p.G17D		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	17							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CTCGCCCTGGCCAGCGTTCCT	0.622			T	ETV6	"AML, meningioma"								False	0	False	22:28196482	0	T	28196482	C	T	28196482	3	4	88	1	0	0	0	0	1	0	0	0	9740	739	26	2	3920	2	MN1	22	28196482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	28196482	23108084	20059	27771											
PITPNB	23760	broad.mit.edu	37	chr22	28269748	28269748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagttgggtcccaaagggCctctcttggtcttgactgac	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28269748C>T	ENST00000335272.5	-	8	588	c.512G>A	c.(511-513)gGc>gAc	p.G171D	PITPNB_ENST00000455418.3_Missense_Mutation_p.G173D|PITPNB_ENST00000320996.10_Missense_Mutation_p.G171D	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	171					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						TCCCAAAGGGCCTCTCTTGGT	0.488													False	0	True	22:28269748	0	T	28269748	C	T	28269748	3	4	88	1	0	0	0	0	1	0	0	0	12017	739	26	2	319	2	PITPNB	22	28269748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73266	28269748	23034818	20060	27772											
CCDC117	150275	broad.mit.edu	37	chr22	29182081	29182081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattttatgtcttaggagcCgtccttccatggagcttgtt	10	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29182081C>T	ENST00000249064.4	+	5	783	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	CCDC117_ENST00000443309.2_Missense_Mutation_p.R71C|CCDC117_ENST00000421503.2_Missense_Mutation_p.R128C|CCDC117_ENST00000448492.2_Missense_Mutation_p.R185C	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	203										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						TCTTAGGAGCCGTCCTTCCAT	0.398													False	0	False	22:29182081	0	T	29182081	C	T	29182081	3	4	88	1	0	0	0	0	1	0	0	0	2774	652	23	1	625	1	CCDC117	22	29182081	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	912333	29182081	22122485	20061	27773											
ZNRF3	84133	broad.mit.edu	37	chr22	29445738	29445738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccctcccacctggagagCggcagcacgtccagcttcag	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29445738C>T	ENST00000544604.2	+	8	1744	c.1569C>T	c.(1567-1569)agC>agT	p.S523S	ZNRF3_ENST00000332811.4_Silent_p.S423S|ZNRF3_ENST00000402174.1_Silent_p.S423S|ZNRF3_ENST00000406323.3_Silent_p.S423S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	523						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						ACCTGGAGAGCGGCAGCACGT	0.711													False	0	False	22:29445738	0	T	29445738	C	T	29445738	2	4	88	1	0	0	0	0	0	0	0	1	18295	767	27	1		1	ZNRF3	22	29445738	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	263657	29445738	21858828	20062	27774											
ZNRF3	84133	broad.mit.edu	37	chr22	29446300	29446300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacgagttgccgtcgtgtGcctgctgctgcgagccccag	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29446300G>A	ENST00000544604.2	+	8	2306	c.2131G>A	c.(2131-2133)Gcc>Acc	p.A711T	ZNRF3_ENST00000332811.4_Missense_Mutation_p.A611T|ZNRF3_ENST00000402174.1_Missense_Mutation_p.A611T|ZNRF3_ENST00000406323.3_Missense_Mutation_p.A611T	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	711						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCGTCGTGTGCCTGCTGCTG	0.697													False	0	False	22:29446300	0	A	29446300	G	A	29446300	3	1	88	1	0	0	0	0	1	0	0	0	18295	1319	46	2	1857	2	ZNRF3	22	29446300	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	562	29446300	21858266	20063	27775											
ZNRF3	84133	broad.mit.edu	37	chr22	29446426	29446426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggggagccccagtcaGgaagctcccagggcttgtac	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29446426G>A	ENST00000544604.2	+	8	2432	c.2257G>A	c.(2257-2259)Gga>Aga	p.G753R	ZNRF3_ENST00000332811.4_Missense_Mutation_p.G653R|ZNRF3_ENST00000402174.1_Missense_Mutation_p.G653R|ZNRF3_ENST00000406323.3_Missense_Mutation_p.G653R	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	753						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCCCAGTCAGGAAGCTCCCA	0.657													False	0	False	22:29446426	0	A	29446426	G	A	29446426	3	1	88	1	0	0	0	0	1	0	0	0	18295	1001	35	2	1983	2	ZNRF3	22	29446426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	29446426	21858140	20064	27776											
C22orf31	25770	broad.mit.edu	37	chr22	29455169	29455169	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctttgaactttctttaCtctagccaggaagaaagcag	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29455169C>T	ENST00000216071.4	-	3	485	c.434G>A	c.(433-435)aGt>aAt	p.S145N		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	145										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						ACTTTCTTTACTCTAGCCAGG	0.458													False	0	False	22:29455169	0	T	29455169	C	T	29455169	5	4	88	1	0	0	0	0	0	0	1	0	2159	579	20	2	442	2	C22orf31	22	29455169	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8743	29455169	21849397	20065	27777											
KREMEN1	0	broad.mit.edu	37	chr22	29517357	29517357	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttagtgcctggaaaccTtggctgctacaaggatcatg	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29517357T>G	ENST00000400338.2	+	4	418	c.365T>G	c.(364-366)cTt>cGt	p.L122R	KREMEN1_ENST00000327813.5_Missense_Mutation_p.L122R|KREMEN1_ENST00000407188.1_Missense_Mutation_p.L120R|KREMEN1_ENST00000400335.4_Missense_Mutation_p.L122R			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	120	WSC.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCTGGAAACCTTGGCTGCTAC	0.423													False	0	False	22:29517357	0	G	29517357	T	G	29517357	3	3	88	1	0	0	0	0	1	0	0	0	8492	1609	56	4	379	4	KREMEN1	22	29517357	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62188	29517357	21787209	20066	27778											
KREMEN1	0	broad.mit.edu	37	chr22	29533635	29533635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgatcgcatcaatcagGcccagggatttgctgtttta	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29533635G>A	ENST00000400338.2	+	6	990	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	KREMEN1_ENST00000327813.5_Missense_Mutation_p.A313T|KREMEN1_ENST00000407188.1_Missense_Mutation_p.A311T|KREMEN1_ENST00000400335.4_Missense_Mutation_p.A313T			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	311	CUB.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CATCAATCAGGCCCAGGGATT	0.532													False	0	True	22:29533635	0	A	29533635	G	A	29533635	3	1	88	1	0	0	0	0	1	0	0	0	8492	1203	42	2	959	2	KREMEN1	22	29533635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16278	29533635	21770931	20067	27779											
EWSR1	2130	broad.mit.edu	37	chr22	29674083	29674083	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggggtatggcactggtgcTtatgataccaccactgctac	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29674083T>G	ENST00000397938.2	+	5	610	c.291T>G	c.(289-291)gcT>gcG	p.A97A	EWSR1_ENST00000332035.6_Silent_p.A97A|EWSR1_ENST00000332050.6_Silent_p.A97A|EWSR1_ENST00000331029.7_Silent_p.A97A|EWSR1_ENST00000414183.2_Silent_p.A103A|EWSR1_ENST00000406548.1_Silent_p.A97A|EWSR1_ENST00000333395.6_Silent_p.A97A	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	97	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCACTGGTGCTTATGATACCA	0.552			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								False	0	False	22:29674083	0	G	29674083	T	G	29674083	2	3	88	1	0	0	0	0	0	0	0	1	5328	1596	56	4		4	EWSR1	22	29674083	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140448	29674083	21630483	20068	27780											
EWSR1	2130	broad.mit.edu	37	chr22	29678381	29678381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattatttctcctcttagacCgcaggatggaaacaagccca	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29678381C>T	ENST00000397938.2	+	6	735	c.416C>T	c.(415-417)cCg>cTg	p.P139L	EWSR1_ENST00000332035.6_Intron|EWSR1_ENST00000332050.6_Missense_Mutation_p.P139L|EWSR1_ENST00000331029.7_Missense_Mutation_p.P139L|EWSR1_ENST00000414183.2_Missense_Mutation_p.P145L|EWSR1_ENST00000406548.1_Missense_Mutation_p.P139L|EWSR1_ENST00000333395.6_Missense_Mutation_p.P139L	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	139	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCTCTTAGACCGCAGGATGGA	0.423			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								False	0	False	22:29678381	0	T	29678381	C	T	29678381	3	4	88	1	0	0	0	0	1	0	0	0	5328	652	23	1	460	1	EWSR1	22	29678381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4298	29678381	21626185	20069	27781											
GAS2L1	10634	broad.mit.edu	37	chr22	29707995	29707995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggagcagcagctgttcCggcgcctggaagaggagttc	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29707995C>T	ENST00000471961.1	+	5	2602	c.1554C>T	c.(1552-1554)tcC>tcT	p.S518S	GAS2L1_ENST00000407854.1_Silent_p.S518S|GAS2L1_ENST00000407647.2_Silent_p.S518S|GAS2L1_ENST00000403764.1_Silent_p.S518S|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000360113.2_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	364					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						GCAGCTGTTCCGGCGCCTGGA	0.687													False	0	False	22:29707995	0	T	29707995	C	T	29707995	2	4	88	1	0	0	0	0	0	0	0	1	6289	639	23	1		1	GAS2L1	22	29707995	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29614	29707995	21596571	20070	27782											
GAS2L1	10634	broad.mit.edu	37	chr22	29708458	29708458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgcactcagtcacccCgagggctgagccagattcct	10	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29708458C>T	ENST00000406549.3	+	6	1487	c.1337C>T	c.(1336-1338)cCg>cTg	p.P446L	GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	673					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						TCAGTCACCCCGAGGGCTGAG	0.637													False	0	True	22:29708458	0	T	29708458	C	T	29708458	3	4	88	1	0	0	0	0	1	0	0	0	6289	644	23	1	2039	1	GAS2L1	22	29708458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463	29708458	21596108	20071	27783											
AP1B1	162	broad.mit.edu	37	chr22	29727889	29727889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggacctggaggggggtggCgggggccaggccaaagctgg	23	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29727889C>T	ENST00000357586.2	-	18	2512	c.2326G>A	c.(2326-2328)Gcc>Acc	p.A776T	AP1B1_ENST00000356015.2_Missense_Mutation_p.A769T|AP1B1_ENST00000432560.2_Missense_Mutation_p.A769T|AP1B1_ENST00000415447.1_Missense_Mutation_p.A769T|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000405198.1_Missense_Mutation_p.A776T|AP1B1_ENST00000317368.7_Missense_Mutation_p.A749T|AP1B1_ENST00000402502.1_Missense_Mutation_p.A769T	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	776					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGGGGGTGGCGGGGGCCAGG	0.667													False	0	True	22:29727889	0	T	29727889	C	T	29727889	3	4	88	1	0	0	0	0	1	0	0	0	733	768	27	1	547	1	AP1B1	22	29727889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19431	29727889	21576677	20072	27784											
RFPL1	5988	broad.mit.edu	37	chr22	29835141	29835141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagatgaacccaaggatgCggaagttccaaggtgaggga	15	7	0	3	rs142648482	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29835141C>T	ENST00000354373.2	+	1	570	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	121	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCCAAGGATGCGGAAGTTCCA	0.517													False	0	False	22:29835141	0	T	29835141	C	T	29835141	3	4	88	1	0	0	0	0	1	0	0	0	13332	759	27	1	363	1	RFPL1	22	29835141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107252	29835141	21469425	20073	27785											
NEFH	4744	broad.mit.edu	37	chr22	29881809	29881809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcaatgtcaagatggCtctggatatagagatagccg	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29881809C>T	ENST00000310624.6	+	3	1214	c.1181C>T	c.(1180-1182)gCt>gTt	p.A394V		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	394	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GTCAAGATGGCTCTGGATATA	0.547													False	0	False	22:29881809	0	T	29881809	C	T	29881809	3	4	88	1	0	0	0	0	1	0	0	0	10382	797	28	2	1191	2	NEFH	22	29881809	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46668	29881809	21422757	20074	27786											
NEFH	4744	broad.mit.edu	37	chr22	29886650	29886650	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaaaagacagcaagccTccagagaaggccacagaaga	10	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29886650T>A	ENST00000310624.6	+	4	3054	c.3021T>A	c.(3019-3021)ccT>ccA	p.P1007P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	1013	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						ACAGCAAGCCTCCAGAGAAGG	0.517													False	0	False	22:29886650	0	A	29886650	T	A	29886650	2	1	88	1	0	0	0	0	0	0	0	1	10382	1538	54	5		5	NEFH	22	29886650	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4841	29886650	21417916	20075	27787											
THOC5	8563	broad.mit.edu	37	chr22	29913321	29913321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttggcagggaagaggtaCtggcaatcactggtaactgg	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29913321C>A	ENST00000490103.1	-	16	1646	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Q508H|THOC5_ENST00000397872.1_Missense_Mutation_p.Q508H|THOC5_ENST00000397873.2_Missense_Mutation_p.Q508H	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	508					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAAGAGGTACTGGCAATCAC	0.478													False	0	False	22:29913321	0	A	29913321	C	A	29913321	3	1	88	1	0	0	0	0	1	0	0	0	15950	564	20	3	547	3	THOC5	22	29913321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26671	29913321	21391245	20076	27788											
ZMAT5	55954	broad.mit.edu	37	chr22	30144499	30144499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggttgtcctggaaggagCggtcgcagtagtcacagaag	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30144499C>T	ENST00000397781.3	-	3	285	c.35G>A	c.(34-36)cGc>cAc	p.R12H	ZMAT5_ENST00000344318.3_Missense_Mutation_p.R12H	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	12					mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CTGGAAGGAGCGGTCGCAGTA	0.567													False	0	False	22:30144499	0	T	30144499	C	T	30144499	3	4	88	1	0	0	0	0	1	0	0	0	17778	768	27	1	497	1	ZMAT5	22	30144499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	231178	30144499	21160067	20077	27789											
ASCC2	84164	broad.mit.edu	37	chr22	30186501	30186501	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgcctggcttctgccttctCtctcagcactgcagggtcct	10	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30186501C>A	ENST00000397771.2	-	20	2236	c.2059G>T	c.(2059-2061)Gag>Tag	p.E687*	ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E611*|ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E687*			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TCTGCCTTCTCTCTCAGCACT	0.587													False	0	True	22:30186501	0	A	30186501	C	A	30186501	4	1	88	1	0	0	0	0	0	1	0	0	1036	922	32	3	222	3	ASCC2	22	30186501	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42002	30186501	21118065	20078	27790											
ASCC2	84164	broad.mit.edu	37	chr22	30212055	30212055	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taacttggctgctgtgtaaaGatgtttcctaaaaagagaag	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30212055G>T	ENST00000397771.2	-	7	726	c.549C>A	c.(547-549)atC>atA	p.I183I	ASCC2_ENST00000542393.1_Silent_p.I107I|ASCC2_ENST00000478812.1_5'UTR|ASCC2_ENST00000307790.3_Silent_p.I183I			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GCTGTGTAAAGATGTTTCCTA	0.512													False	0	True	22:30212055	0	T	30212055	G	T	30212055	2	4	88	1	0	0	0	0	0	0	0	1	1036	932	33	3		3	ASCC2	22	30212055	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25554	30212055	21092511	20079	27791											
LIF	3976	broad.mit.edu	37	chr22	30640766	30640766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaataaagagggcattgGcactgccattgagctgtgcc	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30640766G>A	ENST00000249075.3	-	2	331	c.176C>T	c.(175-177)gCc>gTc	p.A59V	LIF_ENST00000403987.3_Intron	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	59					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GAGGGCATTGGCACTGCCATT	0.532													False	0	False	22:30640766	0	A	30640766	G	A	30640766	3	1	88	1	0	0	0	0	1	0	0	0	8831	1203	42	2	440	2	LIF	22	30640766	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	428711	30640766	20663800	20080	27792											
TBC1D10A	83874	broad.mit.edu	37	chr22	30689795	30689795	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggaagatgatcttgacccCtgcatgggggatgggcagta	15	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30689795C>T	ENST00000215790.7	-	8	1060		c.e8-1		TBC1D10A_ENST00000403477.3_Splice_Site|TBC1D10A_ENST00000403362.1_Splice_Site|RP1-130H16.18_ENST00000447976.1_Splice_Site	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A							intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						ATCTTGACCCCTGCATGGGGG	0.612													False	0	True	22:30689795	0	T	30689795	C	T	30689795	5	4	88	1	0	0	0	0	0	0	1	0	15680	695	24	2	639	2	TBC1D10A	22	30689795	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49029	30689795	20614771	20081	27793											
SF3A1	10291	broad.mit.edu	37	chr22	30735152	30735152	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctggatctcctcctcaccGatcttcttaccaatggctgt	6	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30735152G>A	ENST00000215793.8	-	10	1618	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	SF3A1_ENST00000439242.1_Silent_p.I423I	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CCTCCTCACCGATCTTCTTAC	0.517													False	0	False	22:30735152	0	A	30735152	G	A	30735152	2	1	88	1	0	0	0	0	0	0	0	1	14227	1048	37	1		1	SF3A1	22	30735152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45357	30735152	20569414	20082	27794											
SF3A1	10291	broad.mit.edu	37	chr22	30737858	30737858	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagctcctctggcgtggtGgggggagggaagttccctag	17	11	1	0	rs36085017	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30737858G>T	ENST00000215793.8	-	7	1048	c.894C>A	c.(892-894)ccC>ccA	p.P298P	SF3A1_ENST00000439242.1_Silent_p.P233P	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CTGGCGTGGTGGGGGGAGGGA	0.572													False	0	True	22:30737858	0	T	30737858	G	T	30737858	2	4	88	1	0	0	0	0	0	0	0	1	14227	1335	47	3		3	SF3A1	22	30737858	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2706	30737858	20566708	20083	27795											
RNF215	200312	broad.mit.edu	37	chr22	30782666	30782666	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttattctcctggtggaacTgggccgcctgctccttgccc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30782666T>C	ENST00000382363.3	-	2	442	c.368A>G	c.(367-369)cAg>cGg	p.Q123R		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	123						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CTGGTGGAACTGGGCCGCCTG	0.637													False	0	True	22:30782666	0	C	30782666	T	C	30782666	3	2	88	1	0	0	0	0	1	0	0	0	13558	1580	55	4	797	4	RNF215	22	30782666	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44808	30782666	20521900	20084	27796											
SEC14L2	23541	broad.mit.edu	37	chr22	30805262	30805262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagcctgctgtggaggcCtatggagaggtgaggggcag	20	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30805262C>T	ENST00000312932.9	+	6	770	c.510C>T	c.(508-510)gcC>gcT	p.A170A	SEC14L2_ENST00000403484.1_Silent_p.A96A|SEC14L2_ENST00000405717.3_Silent_p.A170A|SEC14L2_ENST00000402592.3_Silent_p.A87A|RP4-539M6.19_ENST00000439838.1_Silent_p.A4A|SEC14L2_ENST00000459728.1_3'UTR	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	170	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CTGTGGAGGCCTATggagagg	0.602													False	0	False	22:30805262	0	T	30805262	C	T	30805262	2	4	88	1	0	0	0	0	0	0	0	1	14063	668	24	2		2	SEC14L2	22	30805262	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22596	30805262	20499304	20085	27797											
SEC14L3	266629	broad.mit.edu	37	chr22	30856091	30856091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaagctgaccttcttggCgtggacaaagctataggtgt	13	7	1	2	rs142573310	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30856091C>T	ENST00000215812.4	-	12	1210	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T	SEC14L3_ENST00000539629.1_Missense_Mutation_p.A315T|SEC14L3_ENST00000540910.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000402286.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000401751.1_Missense_Mutation_p.A315T	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	374	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ACCTTCTTGGCGTGGACAAAG	0.527													False	0	False	22:30856091	0	T	30856091	C	T	30856091	3	4	88	1	0	0	0	0	1	0	0	0	14064	768	27	1	86	1	SEC14L3	22	30856091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50829	30856091	20448475	20086	27798											
SEC14L3	266629	broad.mit.edu	37	chr22	30857366	30857366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttatagcgctggctggGtagaacatctgtcatctccc	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30857366G>A	ENST00000403066.1	-	12	1118	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	SEC14L3_ENST00000539629.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000540910.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000415957.2_Missense_Mutation_p.P279S|SEC14L3_ENST00000215812.4_Missense_Mutation_p.P338S|SEC14L3_ENST00000402286.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000401751.1_Missense_Mutation_p.P279S			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	338	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CGCTGGCTGGGTAGAACATCT	0.607													False	0	True	22:30857366	0	A	30857366	G	A	30857366	3	1	88	1	0	0	0	0	1	0	0	0	14064	1261	44	2	198	2	SEC14L3	22	30857366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1275	30857366	20447200	20087	27799											
SEC14L4	284904	broad.mit.edu	37	chr22	30890926	30890926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtcaaacaccatcagcGccatctcgatcttcctgccc	5	18	4	0	rs142766376	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30890926G>A	ENST00000392772.2	-	6	561	c.284C>T	c.(283-285)gCg>gTg	p.A95V	SEC14L4_ENST00000540456.1_Missense_Mutation_p.A134V|SEC14L4_ENST00000255858.7_Missense_Mutation_p.A149V|SEC14L4_ENST00000381982.3_Missense_Mutation_p.A149V			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	149	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CACCATCAGCGCCATCTCGAT	0.592													False	0	False	22:30890926	0	A	30890926	G	A	30890926	3	1	88	1	0	0	0	0	1	0	0	0	14065	1087	38	1	808	1	SEC14L4	22	30890926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33560	30890926	20413640	20088	27800											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951198	30951198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatggtccgcatgcgctcGttggcatggcgcagggcggc	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951198G>A	ENST00000402321.1	-	3	1331	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	GAL3ST1_ENST00000401975.1_Silent_p.N338N|GAL3ST1_ENST00000338911.5_Silent_p.N338N|GAL3ST1_ENST00000443111.2_Silent_p.N338N|GAL3ST1_ENST00000406955.1_Silent_p.N338N|GAL3ST1_ENST00000402369.1_Silent_p.N338N|GAL3ST1_ENST00000406361.1_Silent_p.N338N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	338					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCATGCGCTCGTTGGCATGGC	0.716													False	0	False	22:30951198	0	A	30951198	G	A	30951198	2	1	88	1	0	0	0	0	0	0	0	1	6240	1136	40	1		1	GAL3ST1	22	30951198	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60272	30951198	20353368	20089	27801											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951676	30951676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacgtgaggggcaccaccGgcccgaagtagtggaaggag	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951676G>A	ENST00000402321.1	-	3	853	c.536C>T	c.(535-537)cCg>cTg	p.P179L	GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P179L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P179L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	179					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GGGCACCACCGGCCCGAAGTA	0.652													False	0	False	22:30951676	0	A	30951676	G	A	30951676	3	1	88	1	0	0	0	0	1	0	0	0	6240	1116	39	1	739	1	GAL3ST1	22	30951676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478	30951676	20352890	20090	27802											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951867	30951867	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgaagaaggtcgggtagtcGaagtcattgcggccgttagg	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951867G>A	ENST00000402321.1	-	3	662	c.345C>T	c.(343-345)ttC>ttT	p.F115F	GAL3ST1_ENST00000401975.1_Silent_p.F115F|GAL3ST1_ENST00000338911.5_Silent_p.F115F|GAL3ST1_ENST00000443111.2_Silent_p.F115F|GAL3ST1_ENST00000406955.1_Silent_p.F115F|GAL3ST1_ENST00000402369.1_Silent_p.F115F|GAL3ST1_ENST00000406361.1_Silent_p.F115F			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	115					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TCGGGTAGTCGAAGTCATTGC	0.612													False	0	False	22:30951867	0	A	30951867	G	A	30951867	2	1	88	1	0	0	0	0	0	0	0	1	6240	1049	37	1		1	GAL3ST1	22	30951867	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191	30951867	20352699	20091	27803											
PES1	23481	broad.mit.edu	37	chr22	30980611	30980611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagctgaatggtctgcacGtggcacttgccagtccgcgg	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30980611G>A	ENST00000402281.1	-	7	1036	c.45C>T	c.(43-45)caC>caT	p.H15H	PES1_ENST00000335214.6_Silent_p.H154H|PES1_ENST00000402284.3_Silent_p.H154H|PES1_ENST00000354694.7_Silent_p.H154H|PES1_ENST00000405677.1_Silent_p.H15H	NM_001282327.1	NP_001269256.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	154	Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TGGTCTGCACGTGGCACTTGC	0.617													False	0	False	22:30980611	0	A	30980611	G	A	30980611	2	1	88	1	0	0	0	0	0	0	0	1	11801	1136	40	1		1	PES1	22	30980611	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28744	30980611	20323955	20092	27804											
TCN2	6948	broad.mit.edu	37	chr22	31008947	31008947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcgctctcagagccaaCtgtgagtttgtcaggggcca	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31008947C>A	ENST00000215838.3	+	3	839	c.345C>A	c.(343-345)aaC>aaA	p.N115K	TCN2_ENST00000407817.3_Splice_Site_p.N115K|TCN2_ENST00000405742.3_Missense_Mutation_p.N111K			P20062	TCO2_HUMAN	transcobalamin II	115					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGAGCCAACTGTGAGTTTG	0.597													False	0	False	22:31008947	0	A	31008947	C	A	31008947	3	1	88	1	0	0	0	0	1	0	0	0	15789	579	20	3	355	3	TCN2	22	31008947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28336	31008947	20295619	20093	27805											
TCN2	6948	broad.mit.edu	37	chr22	31011441	31011441	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactttgggaatgtctacaGcaccccattggcattacagg	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011441G>T	ENST00000215838.3	+	5	1228	c.734G>T	c.(733-735)aGc>aTc	p.S245I	TCN2_ENST00000407817.3_Missense_Mutation_p.S218I|TCN2_ENST00000405742.3_Missense_Mutation_p.S241I			P20062	TCO2_HUMAN	transcobalamin II	245					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATGTCTACAGCACCCCATTG	0.597													False	0	False	22:31011441	0	T	31011441	G	T	31011441	3	4	88	1	0	0	0	0	1	0	0	0	15789	971	34	3	752	3	TCN2	22	31011441	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2494	31011441	20293125	20094	27806											
TCN2	6948	broad.mit.edu	37	chr22	31011607	31011607	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttcctcatgacttcccccaTgcgtggggcagaactgggaa	12	12	1	2	rs113331651		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011607T>A	ENST00000215838.3	+	6	1267	c.773T>A	c.(772-774)aTg>aAg	p.M258K	TCN2_ENST00000407817.3_Missense_Mutation_p.M231K|TCN2_ENST00000405742.3_Missense_Mutation_p.M254K			P20062	TCO2_HUMAN	transcobalamin II	258					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTTCCCCCATGCGTGGGGCA	0.577													False	0	False	22:31011607	0	A	31011607	T	A	31011607	3	1	88	1	0	0	0	0	1	0	0	0	15789	1464	51	5	795	5	TCN2	22	31011607	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	166	31011607	20292959	20095	27807											
TCN2	6948	broad.mit.edu	37	chr22	31011762	31011762	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctgatcttcccagactgtCtggcaccacgaggtagccca	9	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011762C>A	ENST00000215838.3	+	6	1422	c.928C>A	c.(928-930)Ctg>Atg	p.L310M	TCN2_ENST00000407817.3_Missense_Mutation_p.L283M|TCN2_ENST00000405742.3_Missense_Mutation_p.L306M			P20062	TCO2_HUMAN	transcobalamin II	310					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCAGACTGTCTGGCACCACG	0.532													False	0	False	22:31011762	0	A	31011762	C	A	31011762	3	1	88	1	0	0	0	0	1	0	0	0	15789	912	32	3	950	3	TCN2	22	31011762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	31011762	20292804	20096	27808											
SLC35E4	339665	broad.mit.edu	37	chr22	31032960	31032960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgctctgcctgggggccGcctgcagcctggctggagag	17	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31032960G>A	ENST00000343605.4	+	1	1322	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	SLC35E4_ENST00000300385.8_Missense_Mutation_p.A175T|SLC35E4_ENST00000406566.1_Missense_Mutation_p.A175T	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	175	DUF6.|Leu-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCTGGGGGCCGCCTGCAGCCT	0.682													False	0	False	22:31032960	0	A	31032960	G	A	31032960	3	1	88	1	0	0	0	0	1	0	0	0	14667	1087	38	1	525	1	SLC35E4	22	31032960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21198	31032960	20271606	20097	27809											
OSBP2	23762	broad.mit.edu	37	chr22	31091406	31091406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccaatgtcggggactggCacgacctccagtgccccact	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31091406C>T	ENST00000332585.6	+	1	614	c.510C>T	c.(508-510)ggC>ggT	p.G170G	OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000382310.3_Silent_p.G170G|OSBP2_ENST00000446658.2_Silent_p.G170G|OSBP2_ENST00000407373.1_Intron	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	170					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CGGGGACTGGCACGACCTCCA	0.612													False	0	False	22:31091406	0	T	31091406	C	T	31091406	2	4	88	1	0	0	0	0	0	0	0	1	11342	697	25	2		2	OSBP2	22	31091406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58446	31091406	20213160	20098	27810											
OSBP2	23762	broad.mit.edu	37	chr22	31289171	31289171	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcatggctggagcctctgGcaggagatcaccatctccag	12	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31289171G>A	ENST00000332585.6	+	9	2036	c.1932G>A	c.(1930-1932)tgG>tgA	p.W644*	OSBP2_ENST00000401475.1_Nonsense_Mutation_p.W277*|OSBP2_ENST00000403222.3_Nonsense_Mutation_p.W478*|OSBP2_ENST00000437268.2_Nonsense_Mutation_p.W386*|OSBP2_ENST00000382310.3_Nonsense_Mutation_p.W595*|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.W643*|OSBP2_ENST00000535268.1_Nonsense_Mutation_p.W188*|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.W471*	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	644					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGAGCCTCTGGCAGGAGATCA	0.592													False	0	False	22:31289171	0	A	31289171	G	A	31289171	4	1	88	1	0	0	0	0	0	1	0	0	11342	1212	42	2	1966	2	OSBP2	22	31289171	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197765	31289171	20015395	20099	27811											
SMTN	6525	broad.mit.edu	37	chr22	31483985	31483985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatctggcagagcggcggcGcatccgctcagccatccggg	15	14	2	2	rs145193216	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31483985G>A	ENST00000333137.7	+	3	304	c.86G>A	c.(85-87)cGc>cAc	p.R29H	SMTN_ENST00000358743.1_Missense_Mutation_p.R29H|SMTN_ENST00000347557.2_Missense_Mutation_p.R29H|SMTN_ENST00000475548.1_3'UTR	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	29					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GAGCGGCGGCGCATCCGCTCA	0.677													False	0	True	22:31483985	0	A	31483985	G	A	31483985	3	1	88	1	0	0	0	0	1	0	0	0	14894	1087	38	1	92	1	SMTN	22	31483985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194814	31483985	19820581	20100	27812											
SMTN	6525	broad.mit.edu	37	chr22	31484516	31484516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctctcagcagcgggaagCtgagcagcgggctgccctgg	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31484516C>A	ENST00000333137.7	+	4	436	c.218C>A	c.(217-219)gCt>gAt	p.A73D	SMTN_ENST00000358743.1_Missense_Mutation_p.A73D|SMTN_ENST00000347557.2_Missense_Mutation_p.A73D|SMTN_ENST00000475548.1_3'UTR	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	73					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CAGCGGGAAGCTGAGCAGCGG	0.627													False	0	False	22:31484516	0	A	31484516	C	A	31484516	3	1	88	1	0	0	0	0	1	0	0	0	14894	797	28	3	228	3	SMTN	22	31484516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	531	31484516	19820050	20101	27813											
SMTN	6525	broad.mit.edu	37	chr22	31484712	31484712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctggtgagtatgaggagCgcaagctgatccgagctgcc	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31484712C>T	ENST00000333137.7	+	5	540	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	SMTN_ENST00000358743.1_Missense_Mutation_p.R108C|SMTN_ENST00000347557.2_Missense_Mutation_p.R108C	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	108					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GTATGAGGAGCGCAAGCTGAT	0.642													False	0	False	22:31484712	0	T	31484712	C	T	31484712	3	4	88	1	0	0	0	0	1	0	0	0	14894	768	27	1	336	1	SMTN	22	31484712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196	31484712	19819854	20102	27814											
SMTN	6525	broad.mit.edu	37	chr22	31489809	31489809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgtggcccacccacctGccttcagcacccgccgccgc	8	25	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31489809G>A	ENST00000404574.1	+	1	466	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	SMTN_ENST00000358743.1_Intron|SMTN_ENST00000347557.2_Intron|SMTN_ENST00000333137.7_Intron			P53814	SMTN_HUMAN	smoothelin	529					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCACCCACCTGCCTTCAGCAC	0.692													False	0	False	22:31489809	0	A	31489809	G	A	31489809	3	1	88	1	0	0	0	0	1	0	0	0	14894	1334	46	2		2	SMTN	22	31489809	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5097	31489809	19814757	20103	27815											
SMTN	6525	broad.mit.edu	37	chr22	31494783	31494783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctcagcctcccaggcgCgcaaggccatgattgagaag	12	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31494783C>T	ENST00000333137.7	+	17	2508	c.2290C>T	c.(2290-2292)Cgc>Tgc	p.R764C	SMTN_ENST00000358743.1_Missense_Mutation_p.R764C|SMTN_ENST00000347557.2_Missense_Mutation_p.R764C|SMTN_ENST00000404574.1_Missense_Mutation_p.R287C	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	764					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTCCCAGGCGCGCAAGGCCAT	0.677													False	0	True	22:31494783	0	T	31494783	C	T	31494783	3	4	88	1	0	0	0	0	1	0	0	0	14894	768	27	1	2352	1	SMTN	22	31494783	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4974	31494783	19809783	20104	27816											
INPP5J	27124	broad.mit.edu	37	chr22	31529975	31529975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagggagaggatgacaGcacactggagctccttgcac	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31529975G>A	ENST00000331075.5	+	13	2640	c.2591G>A	c.(2590-2592)aGc>aAc	p.S864N	INPP5J_ENST00000404453.1_Missense_Mutation_p.S229N|INPP5J_ENST00000401755.1_Missense_Mutation_p.S229N|INPP5J_ENST00000412277.2_Missense_Mutation_p.S797N|INPP5J_ENST00000400294.2_Missense_Mutation_p.S497N|INPP5J_ENST00000404390.3_Missense_Mutation_p.S496N|INPP5J_ENST00000405300.1_Missense_Mutation_p.S497N|INPP5J_ENST00000402238.1_Missense_Mutation_p.S203N	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	864	Ser-rich.					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GAGGATGACAGCACACTGGAG	0.647													False	0	False	22:31529975	0	A	31529975	G	A	31529975	3	1	88	1	0	0	0	0	1	0	0	0	7809	971	34	2	1537	2	INPP5J	22	31529975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35192	31529975	19774591	20105	27817											
PLA2G3	50487	broad.mit.edu	37	chr22	31531903	31531903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggctgacaccctgatggCcctagggtctctggaacagc	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31531903C>T	ENST00000215885.3	-	7	1588	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	446					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACCCTGATGGCCCTAGGGTCT	0.597													False	0	True	22:31531903	0	T	31531903	C	T	31531903	3	4	88	1	0	0	0	0	1	0	0	0	12069	739	26	2	197	2	PLA2G3	22	31531903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1928	31531903	19772663	20106	27818											
PLA2G3	50487	broad.mit.edu	37	chr22	31535981	31535981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctggactctcctcaagCgctcggcatgcctcccactg	9	18	2	0	rs149748193	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31535981C>T	ENST00000215885.3	-	1	612	c.360G>A	c.(358-360)gcG>gcA	p.A120A		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	120					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TCTCCTCAAGCGCTCGGCATG	0.637													False	0	False	22:31535981	0	T	31535981	C	T	31535981	2	4	88	1	0	0	0	0	0	0	0	1	12069	755	27	1		1	PLA2G3	22	31535981	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4078	31535981	19768585	20107	27819											
LIMK2	3985	broad.mit.edu	37	chr22	31654314	31654314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attccctcaccaactggtacTatgagaaggatgggaagctc	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31654314T>C	ENST00000331728.4	+	3	268	c.154T>C	c.(154-156)Tat>Cat	p.Y52H	LIMK2_ENST00000340552.4_Missense_Mutation_p.Y31H|LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y31H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	52	LIM zinc-binding 1.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CAACTGGTACTATGAGAAGGA	0.517													False	0	False	22:31654314	0	C	31654314	T	C	31654314	3	2	88	1	0	0	0	0	1	0	0	0	8854	1522	53	4	221	4	LIMK2	22	31654314	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	118333	31654314	19650252	20108	27820											
LIMK2	3985	broad.mit.edu	37	chr22	31669446	31669446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccccaaggaaagagcTatgatgagacggtggatatc	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31669446T>C	ENST00000331728.4	+	14	1681	c.1567T>C	c.(1567-1569)Tat>Cat	p.Y523H	LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y502H|LIMK2_ENST00000406516.1_Missense_Mutation_p.Y445H|LIMK2_ENST00000444929.2_Missense_Mutation_p.Y277H|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y502H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	523	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGGAAAGAGCTATGATGAGAC	0.532											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	22:31669446	0	C	31669446	T	C	31669446	3	2	88	1	0	0	0	0	1	0	0	0	8854	1522	53	4	1678	4	LIMK2	22	31669446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15132	31669446	19635120	20109	27821											
PATZ1	23598	broad.mit.edu	37	chr22	31731752	31731752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgccatgtatgctgccCgcaagtacttcccacacacc	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31731752C>T	ENST00000266269.5	-	3	2062	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	PATZ1_ENST00000351933.4_Missense_Mutation_p.R478Q|RP3-400N23.6_ENST00000440456.1_RNA|RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.R478Q	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	478					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GTATGCTGCCCGCAAGTACTT	0.567													False	0	True	22:31731752	0	T	31731752	C	T	31731752	3	4	88	1	0	0	0	0	1	0	0	0	11544	652	23	1	642	1	PATZ1	22	31731752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62306	31731752	19572814	20110	27822											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31835923	31835923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgggcatggagggcagGggttgctgtagcacatctga	18	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31835923G>A	ENST00000397525.1	-	19	3124	c.2901C>T	c.(2899-2901)ccC>ccT	p.P967P	EIF4ENIF1_ENST00000397523.1_Silent_p.P943P|EIF4ENIF1_ENST00000330125.5_Silent_p.P967P|EIF4ENIF1_ENST00000344710.5_Silent_p.P793P|EIF4ENIF1_ENST00000382180.2_Silent_p.P622P	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	967						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGAGGGCAGGGGTTGCTGTA	0.592													False	0	True	22:31835923	0	A	31835923	G	A	31835923	2	1	88	1	0	0	0	0	0	0	0	1	5067	1219	43	2		2	EIF4ENIF1	22	31835923	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104171	31835923	19468643	20111	27823											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31844161	31844161	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctgtgatggggctcatgGgtttgcgcatgccttggaat	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31844161G>T	ENST00000397525.1	-	13	2049	c.1826C>A	c.(1825-1827)cCc>cAc	p.P609H	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P585H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P609H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P434H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P264H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	609						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGGGCTCATGGGTTTGCGCAT	0.532													False	0	True	22:31844161	0	T	31844161	G	T	31844161	3	4	88	1	0	0	0	0	1	0	0	0	5067	1232	43	3	1162	3	EIF4ENIF1	22	31844161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8238	31844161	19460405	20112	27824											
SFI1	9814	broad.mit.edu	37	chr22	31942888	31942888	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actacggaaggtcttcgaagAatggaaagaggagtggtggg	17	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31942888A>C	ENST00000432498.1	+	5	773	c.380A>C	c.(379-381)gAa>gCa	p.E127A	SFI1_ENST00000540643.1_Missense_Mutation_p.E103A|SFI1_ENST00000443011.1_Missense_Mutation_p.E45A|SFI1_ENST00000443326.1_Missense_Mutation_p.E45A|SFI1_ENST00000400289.1_Missense_Mutation_p.E45A|SFI1_ENST00000414585.1_Missense_Mutation_p.E45A|SFI1_ENST00000400288.2_Missense_Mutation_p.E127A	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	127	Interaction with CETN2.				G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GTCTTCGAAGAATGGAAAGAG	0.413													False	0	False	22:31942888	0	C	31942888	A	C	31942888	3	2	88	1	0	0	0	0	1	0	0	0	14237	246	9	4	394	4	SFI1	22	31942888	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	98727	31942888	19361678	20113	27825											
SFI1	9814	broad.mit.edu	37	chr22	32003945	32003945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggtccagtggcgggaagCtgtgtcagtgcagatgtatt	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32003945C>A	ENST00000432498.1	+	21	2480	c.2087C>A	c.(2086-2088)gCt>gAt	p.A696D	SFI1_ENST00000443326.1_Missense_Mutation_p.A645D|SFI1_ENST00000540643.1_Missense_Mutation_p.A672D|SFI1_ENST00000443011.1_Missense_Mutation_p.A574D|SFI1_ENST00000400289.1_Missense_Mutation_p.A645D|SFI1_ENST00000414585.1_Missense_Mutation_p.A574D|SFI1_ENST00000400288.2_Missense_Mutation_p.A727D	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	727					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGGCGGGAAGCTGTGTCAGTG	0.607													False	0	False	22:32003945	0	A	32003945	C	A	32003945	3	1	88	1	0	0	0	0	1	0	0	0	14237	797	28	3	2262	3	SFI1	22	32003945	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61057	32003945	19300621	20114	27826											
SFI1	9814	broad.mit.edu	37	chr22	32014362	32014362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgccagcccattggcgcCtgcgttgcccgcatccaggc	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32014362C>T	ENST00000432498.1	+	32	3987	c.3594C>T	c.(3592-3594)gcC>gcT	p.A1198A	SFI1_ENST00000443326.1_Silent_p.A1147A|SFI1_ENST00000540643.1_Silent_p.A1174A|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000443011.1_Silent_p.A1076A|SFI1_ENST00000400289.1_Silent_p.A1147A|SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000400288.2_Silent_p.A1229A	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1229					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCATTGGCGCCTGCGTTGCCC	0.687													False	0	False	22:32014362	0	T	32014362	C	T	32014362	2	4	88	1	0	0	0	0	0	0	0	1	14237	668	24	2		2	SFI1	22	32014362	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10417	32014362	19290204	20115	27827											
DEPDC5	9681	broad.mit.edu	37	chr22	32215144	32215144	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagcactgattaaccccttCgctccctctcggatgcccat	7	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32215144C>T	ENST00000400246.1	+	22	1945	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	DEPDC5_ENST00000266091.3_Silent_p.F601F|DEPDC5_ENST00000382112.3_Silent_p.F601F|DEPDC5_ENST00000400249.2_Silent_p.F601F|DEPDC5_ENST00000382105.2_Silent_p.F601F|DEPDC5_ENST00000535622.1_Silent_p.F601F|DEPDC5_ENST00000400248.2_Silent_p.F601F|DEPDC5_ENST00000382111.2_Silent_p.F601F|DEPDC5_ENST00000536766.1_Silent_p.F573F			O75140	DEPD5_HUMAN	DEP domain containing 5	601					intracellular signal transduction			p.F601F(3)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTAACCCCTTCGCTCCCTCTC	0.542													False	0	False	22:32215144	0	T	32215144	C	T	32215144	2	4	88	1	0	0	0	0	0	0	0	1	4472	883	31	1		1	DEPDC5	22	32215144	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200782	32215144	19089422	20116	27828											
DEPDC5	9681	broad.mit.edu	37	chr22	32217617	32217617	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttagcatatcatgaagctgCtggaaggtgaggatgtgcac	14	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32217617C>A	ENST00000400246.1	+	23	2142	c.2000C>A	c.(1999-2001)gCt>gAt	p.A667D	DEPDC5_ENST00000266091.3_Missense_Mutation_p.A667D|DEPDC5_ENST00000382112.3_Missense_Mutation_p.A667D|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000536766.1_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	667					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CATGAAGCTGCTGGAAGGTGA	0.522													False	0	False	22:32217617	0	A	32217617	C	A	32217617	3	1	88	1	0	0	0	0	1	0	0	0	4472	797	28	3	2104	3	DEPDC5	22	32217617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2473	32217617	19086949	20117	27829											
DEPDC5	9681	broad.mit.edu	37	chr22	32270272	32270272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacccaggacaggagtccagCtgctctctgaacagaagggc	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32270272C>A	ENST00000400246.1	+	36	3719	c.3577C>A	c.(3577-3579)Ctg>Atg	p.L1193M	DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1171M|DEPDC5_ENST00000382112.3_Missense_Mutation_p.L1184M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000382105.2_Missense_Mutation_p.L1115M|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1093M|DEPDC5_ENST00000400248.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1193M|DEPDC5_ENST00000539165.1_Missense_Mutation_p.L10M|DEPDC5_ENST00000494060.1_3'UTR			O75140	DEPD5_HUMAN	DEP domain containing 5	1162	DEP.				intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGAGTCCAGCTGCTCTCTGA	0.572													False	0	False	22:32270272	0	A	32270272	C	A	32270272	3	1	88	1	0	0	0	0	1	0	0	0	4472	796	28	3	3706	3	DEPDC5	22	32270272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52655	32270272	19034294	20118	27830											
YWHAH	7533	broad.mit.edu	37	chr22	32346405	32346405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtggcattcccttctgCggtggtgagtgttagcactt	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32346405C>T	ENST00000397492.1	+	2	410	c.198C>T	c.(196-198)tgC>tgT	p.C66C	YWHAH_ENST00000471374.1_Intron|YWHAH_ENST00000248975.5_Intron			Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	0					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						TTCCCTTCTGCGGTGGTGAGT	0.532													False	0	False	22:32346405	0	T	32346405	C	T	32346405	2	4	88	1	0	0	0	0	0	0	0	1	17588	783	27	1		1	YWHAH	22	32346405	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76133	32346405	18958161	20119	27831											
YWHAH	7533	broad.mit.edu	37	chr22	32352162	32352162	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacctctctccaatgaagatCgaaatctcctctctgtggcc	6	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32352162C>T	ENST00000248975.5	+	2	397	c.124C>T	c.(124-126)Cga>Tga	p.R42*	YWHAH_ENST00000471374.1_3'UTR|YWHAH_ENST00000397492.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	42					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CAATGAAGATCGAAATCTCCT	0.448													False	0	False	22:32352162	0	T	32352162	C	T	32352162	4	4	88	1	0	0	0	0	0	1	0	0	17588	876	31	1	130	1	YWHAH	22	32352162	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5757	32352162	18952404	20120	27832											
SLC5A1	6523	broad.mit.edu	37	chr22	32495260	32495260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactcttcgattacatccaGtccatcaccagttacttggg	6	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32495260G>A	ENST00000266088.4	+	12	1621	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	SLC5A1_ENST00000543737.1_Silent_p.Q330Q	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	457					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ATTACATCCAGTCCATCACCA	0.493													False	0	False	22:32495260	0	A	32495260	G	A	32495260	2	1	88	1	0	0	0	0	0	0	0	1	14741	1020	36	2		2	SLC5A1	22	32495260	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143098	32495260	18809306	20121	27833											
SLC5A1	6523	broad.mit.edu	37	chr22	32498116	32498116	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcccagcaactgtcccacGattatctgtggggtgcacta	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32498116G>A	ENST00000266088.4	+	13	1807	c.1557G>A	c.(1555-1557)acG>acA	p.T519T	SLC5A1_ENST00000543737.1_Silent_p.T392T	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	519					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ACTGTCCCACGATTATCTGTG	0.493													False	0	False	22:32498116	0	A	32498116	G	A	32498116	2	1	88	1	0	0	0	0	0	0	0	1	14741	1045	37	1		1	SLC5A1	22	32498116	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2856	32498116	18806450	20122	27834											
C22orf42	150297	broad.mit.edu	37	chr22	32555003	32555003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatcttcggcgtcttcGggaggctgaggtactgcatg	14	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32555003G>A	ENST00000382097.3	-	1	272	c.200C>T	c.(199-201)cCg>cTg	p.P67L		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	67										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CGGCGTCTTCGGGAGGCTGAG	0.557													False	0	True	22:32555003	0	A	32555003	G	A	32555003	3	1	88	1	0	0	0	0	1	0	0	0	2165	1116	39	1	591	1	C22orf42	22	32555003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56887	32555003	18749563	20123	27835											
RFPL2	10739	broad.mit.edu	37	chr22	32586765	32586765	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggagtgagggcttatttGgcctccccaggacggactgg	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32586765G>T	ENST00000400236.3	-	5	2066	c.861C>A	c.(859-861)gcC>gcA	p.A287A	RFPL2_ENST00000248980.4_Silent_p.A316A|RFPL2_ENST00000248983.4_Silent_p.A287A|RFPL2_ENST00000400237.1_Silent_p.A377A|RFPL2_ENST00000489846.1_5'UTR	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	377	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GGGCTTATTTGGCCTCCCCAG	0.448													False	0	True	22:32586765	0	T	32586765	G	T	32586765	2	4	88	1	0	0	0	0	0	0	0	1	13333	1335	47	3		3	RFPL2	22	32586765	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31762	32586765	18717801	20124	27836											
FBXO7	25793	broad.mit.edu	37	chr22	32875113	32875113	+	Missense_Mutation	SNP	T	T	C													cagcgcctaatataccttcaTccacagattcagagcattct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32875113T>C	ENST00000266087.7	+	2	595	c.268T>C	c.(268-270)Tcc>Ccc	p.S90P	FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_5'UTR|FBXO7_ENST00000382058.3_Intron	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	90					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATACCTTCATCCACAGATTC	0.443													False	0	False	22:32875113	0	C	32875113	T	C	32875113	3	2	88	1	0	0	0	0	1	0	0	0	5800	1435	50	4	315	4	FBXO7	22	32875113	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	288348	32875113	18429453	20125	27837	290	2									
FBXO7	25793	broad.mit.edu	37	chr22	32875119	32875119	+	Missense_Mutation	SNP	G	G	T													ctaatataccttcatccacaGattcagagcattcttcactc					rs139135860	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32875119G>T	ENST00000266087.7	+	2	601	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_5'UTR|FBXO7_ENST00000382058.3_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	92					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCATCCACAGATTCAGAGCA	0.433													False	0	False	22:32875119	0	T	32875119	G	T	32875119	3	4	88	1	0	0	0	0	1	0	0	0	5800	956	33	3	321	3	FBXO7	22	32875119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	32875119	18429447	20126	27838	290	2									
FBXO7	25793	broad.mit.edu	37	chr22	32894330	32894330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctatgttggagacccaaTcagttcactcattcctggtc	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32894330T>C	ENST00000266087.7	+	9	1709	c.1382T>C	c.(1381-1383)aTc>aCc	p.I461T	FBXO7_ENST00000397426.1_Missense_Mutation_p.I347T|FBXO7_ENST00000382058.3_Missense_Mutation_p.I382T	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	461					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAGACCCAATCAGTTCACTC	0.552													False	0	False	22:32894330	0	C	32894330	T	C	32894330	3	2	88	1	0	0	0	0	1	0	0	0	5800	1435	50	4	1457	4	FBXO7	22	32894330	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19211	32894330	18410236	20127	27839											
SYN3	8224	broad.mit.edu	37	chr22	32992713	32992713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactaccaccgggaagtgtgGggctgtgacctgaaagagac	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32992713G>A	ENST00000358763.2	-	7	963	c.721C>T	c.(721-723)Cca>Tca	p.P241S	SYN3_ENST00000332840.5_Missense_Mutation_p.P241S	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	241	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGGAAGTGTGGGGCTGTGACC	0.512													False	0	True	22:32992713	0	A	32992713	G	A	32992713	3	1	88	1	0	0	0	0	1	0	0	0	15524	1232	43	2	1053	2	SYN3	22	32992713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98383	32992713	18311853	20128	27840											
TIMP3	7078	broad.mit.edu	37	chr22	33255181	33255181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagatcaagtcctgctaCtacctgccttgctttgtgac	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33255181C>T	ENST00000266085.6	+	5	754	c.453C>T	c.(451-453)taC>taT	p.Y151Y	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	151	Mediates interaction with EFEMP1.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						AGTCCTGCTACTACCTGCCTT	0.532													False	0	False	22:33255181	0	T	33255181	C	T	33255181	2	4	88	1	0	0	0	0	0	0	0	1	16001	576	20	2		2	TIMP3	22	33255181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262468	33255181	18049385	20129	27841											
SYN3	8224	broad.mit.edu	37	chr22	33265005	33265005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtagagagagttgacagcaGgcagccctccatactgcagg	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33265005G>T	ENST00000358763.2	-	5	811	c.569C>A	c.(568-570)cCt>cAt	p.P190H	SYN3_ENST00000332840.5_Missense_Mutation_p.P190H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	190	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTTGACAGCAGGCAGCCCTCC	0.607													False	0	True	22:33265005	0	T	33265005	G	T	33265005	3	4	88	1	0	0	0	0	1	0	0	0	15524	1000	35	3	1213	3	SYN3	22	33265005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9824	33265005	18039561	20130	27842											
SYN3	8224	broad.mit.edu	37	chr22	33402568	33402568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggtggagctatctgggCgttgcaggtccgtcatatag	15	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33402568C>T	ENST00000358763.2	-	2	322	c.80G>A	c.(79-81)cGc>cAc	p.R27H	SYN3_ENST00000332840.5_Missense_Mutation_p.R27H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	27	A.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCTATCTGGGCGTTGCAGGTC	0.592													False	0	True	22:33402568	0	T	33402568	C	T	33402568	3	4	88	1	0	0	0	0	1	0	0	0	15524	768	27	1	1714	1	SYN3	22	33402568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137563	33402568	17901998	20131	27843											
LARGE	9215	broad.mit.edu	37	chr22	33960892	33960892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtggcaaaggtgatatcCgtgtcaaggacgatgactct	12	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33960892C>T	ENST00000354992.2	-	7	1300	c.729G>A	c.(727-729)acG>acA	p.T243T	LARGE_ENST00000437602.2_Silent_p.T243T|LARGE_ENST00000337431.2_Silent_p.T243T|LARGE_ENST00000452586.2_Silent_p.T42T|LARGE_ENST00000402320.1_Silent_p.T243T|LARGE_ENST00000397394.2_Silent_p.T243T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	243					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGGTGATATCCGTGTCAAGGA	0.478													False	0	False	22:33960892	0	T	33960892	C	T	33960892	2	4	88	1	0	0	0	0	0	0	0	1	8678	639	23	1		1	LARGE	22	33960892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	558324	33960892	17343674	20132	27844											
ISX	91464	broad.mit.edu	37	chr22	35478605	35478605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttacccactacccagaCgttcacatccgcagccagct	5	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35478605C>T	ENST00000308700.6	+	2	1276	c.324C>T	c.(322-324)gaC>gaT	p.D108D	ISX_ENST00000404699.2_Silent_p.D108D	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						ACTACCCAGACGTTCACATCC	0.587													False	0	False	22:35478605	0	T	35478605	C	T	35478605	2	4	88	1	0	0	0	0	0	0	0	1	7915	535	19	1		1	ISX	22	35478605	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1517713	35478605	15825961	20133	27845											
HMGXB4	10042	broad.mit.edu	37	chr22	35680005	35680005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttctgtaaagagtatcgCgtgaccattgtggctgacca	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35680005C>T	ENST00000216106.5	+	6	1394	c.1266C>T	c.(1264-1266)cgC>cgT	p.R422R	HMGXB4_ENST00000444518.2_Silent_p.R313R	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	422					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGAGTATCGCGTGACCATTG	0.423													False	0	False	22:35680005	0	T	35680005	C	T	35680005	2	4	88	1	0	0	0	0	0	0	0	1	7286	755	27	1		1	HMGXB4	22	35680005	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201400	35680005	15624561	20134	27846											
MCM5	4174	broad.mit.edu	37	chr22	35808506	35808506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctttgcctaccaaggccGcagctttgctggggccgtga	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35808506G>A	ENST00000216122.4	+	8	1077	c.923G>A	c.(922-924)cGc>cAc	p.R308H	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.R265H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	308					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TACCAAGGCCGCAGCTTTGCT	0.632													False	0	False	22:35808506	0	A	35808506	G	A	35808506	3	1	88	1	0	0	0	0	1	0	0	0	9457	1087	38	1	949	1	MCM5	22	35808506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128501	35808506	15496060	20135	27847											
RASD2	23551	broad.mit.edu	37	chr22	35947670	35947670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaagaccaaggaggcggCggagctgcccatggtcatct	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35947670C>T	ENST00000216127.4	+	3	1034	c.392C>T	c.(391-393)gCg>gTg	p.A131V		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	131					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AAGGAGGCGGCGGAGCTGCCC	0.622													False	0	False	22:35947670	0	T	35947670	C	T	35947670	3	4	88	1	0	0	0	0	1	0	0	0	13146	768	27	1	398	1	RASD2	22	35947670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139164	35947670	15356896	20136	27848											
APOL3	80833	broad.mit.edu	37	chr22	36537445	36537445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtcgcactcaggatccGggctcctctgctcactgccc	11	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36537445G>A	ENST00000424878.2	-	4	2560	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	APOL3_ENST00000349314.2_Missense_Mutation_p.R338W|APOL3_ENST00000397287.2_Missense_Mutation_p.R138W|APOL3_ENST00000397293.2_Missense_Mutation_p.R267W|APOL3_ENST00000361710.2_Missense_Mutation_p.R138W			O95236	APOL3_HUMAN	apolipoprotein L, 3	338					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	p.R338W(1)|p.R267W(1)		endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CTCAGGATCCGGGCTCCTCTG	0.577													False	0	True	22:36537445	0	A	36537445	G	A	36537445	3	1	88	1	0	0	0	0	1	0	0	0	809	1115	39	1	200	1	APOL3	22	36537445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	589775	36537445	14767121	20137	27849											
APOL2	23780	broad.mit.edu	37	chr22	36623483	36623483	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctggctgcagcatctcatgGatcttggtgagaaagttgag	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36623483G>T	ENST00000249066.6	-	6	1457	c.981C>A	c.(979-981)atC>atA	p.I327I	APOL2_ENST00000451256.2_Silent_p.I439I|APOL2_ENST00000358502.5_Silent_p.I327I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	327					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCATCTCATGGATCTTGGTGA	0.557													False	0	False	22:36623483	0	T	36623483	G	T	36623483	2	4	88	1	0	0	0	0	0	0	0	1	808	1164	41	3		3	APOL2	22	36623483	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86038	36623483	14681083	20138	27850											
APOL2	23780	broad.mit.edu	37	chr22	36624001	36624001	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacagcagctgctgctcccaGacccatgccagtgtccaaga	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36624001G>T	ENST00000249066.6	-	6	939	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	APOL2_ENST00000451256.2_Missense_Mutation_p.L267M|APOL2_ENST00000358502.5_Missense_Mutation_p.L155M	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	155					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCTGCTCCCAGACCCATGCCA	0.572													False	0	False	22:36624001	0	T	36624001	G	T	36624001	3	4	88	1	0	0	0	0	1	0	0	0	808	933	33	3	554	3	APOL2	22	36624001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	518	36624001	14680565	20139	27851											
APOL1	8542	broad.mit.edu	37	chr22	36651007	36651007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccctgcagcgacatggaGggagctgctttgctgagagt	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36651007G>T	ENST00000319136.4	+	3	321	c.54G>T	c.(52-54)gaG>gaT	p.E18D	APOL1_ENST00000422706.1_Missense_Mutation_p.E2D|APOL1_ENST00000397279.4_Missense_Mutation_p.E2D|APOL1_ENST00000397278.3_Missense_Mutation_p.E2D|APOL1_ENST00000426053.1_Missense_Mutation_p.E2D|APOL1_ENST00000347595.7_Intron|APOL1_ENST00000440669.2_Missense_Mutation_p.E2D	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	2					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GCGACATGGAGGGAGCTGCTT	0.542													False	0	True	22:36651007	0	T	36651007	G	T	36651007	3	4	88	1	0	0	0	0	1	0	0	0	807	991	35	3	60	3	APOL1	22	36651007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27006	36651007	14653559	20140	27852											
APOL1	8542	broad.mit.edu	37	chr22	36661223	36661223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagatgagctccgtaaagCtctggacaaccttgcaagac	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36661223C>A	ENST00000319136.4	+	7	656	c.389C>A	c.(388-390)gCt>gAt	p.A130D	APOL1_ENST00000422706.1_Missense_Mutation_p.A114D|APOL1_ENST00000397279.4_Missense_Mutation_p.A114D|APOL1_ENST00000397278.3_Missense_Mutation_p.A114D|APOL1_ENST00000426053.1_Missense_Mutation_p.A96D|APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000440669.2_3'UTR	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	114					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTCCGTAAAGCTCTGGACAAC	0.458													False	0	False	22:36661223	0	A	36661223	C	A	36661223	3	1	88	1	0	0	0	0	1	0	0	0	807	797	28	3	411	3	APOL1	22	36661223	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10216	36661223	14643343	20141	27853											
MYH9	4627	broad.mit.edu	37	chr22	36691608	36691608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaactctgttttcagaGcctctagctcttccccaagg	6	16	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36691608G>A	ENST00000216181.5	-	26	3658	c.3428C>T	c.(3427-3429)gCt>gTt	p.A1143V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1143					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGTTTTCAGAGCCTCTAGCTC	0.572			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				False	0	False	22:36691608	0	A	36691608	G	A	36691608	3	1	88	1	0	0	0	0	1	0	0	0	10109	971	34	2	2518	2	MYH9	22	36691608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30385	36691608	14612958	20142	27854											
MYH9	4627	broad.mit.edu	37	chr22	36705431	36705431	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagccactcgtcagctTtgtaatccacctggcggggt	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36705431T>G	ENST00000216181.5	-	15	1969	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	580	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCGTCAGCTTTGTAATCCAC	0.567			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				False	0	True	22:36705431	0	G	36705431	T	G	36705431	3	3	88	1	0	0	0	0	1	0	0	0	10109	1841	64	4	4251	4	MYH9	22	36705431	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13823	36705431	14599135	20143	27855											
EIF3D	8664	broad.mit.edu	37	chr22	36912757	36912757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaggtgacctaccggtaCgcaacagaggcgatttcatt	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36912757C>T	ENST00000216190.8	-	11	1441	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	EIF3D_ENST00000541106.1_Silent_p.A308A|EIF3D_ENST00000405442.1_Silent_p.A357A	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	357						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						CCTACCGGTACGCAACAGAGG	0.507													False	0	False	22:36912757	0	T	36912757	C	T	36912757	2	4	88	1	0	0	0	0	0	0	0	1	5046	523	19	1		1	EIF3D	22	36912757	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207326	36912757	14391809	20144	27856											
CSF2RB	1439	broad.mit.edu	37	chr22	37331398	37331398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggctgctggaagtgctgCctatgtgggtgctggccctc	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37331398C>T	ENST00000262825.5	+	11	1556	c.1339C>T	c.(1339-1341)Cct>Tct	p.P447S	CSF2RB_ENST00000403662.3_Missense_Mutation_p.P441S|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P447S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P388S	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	441					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAAGTGCTGCCTATGTGGGT	0.592													False	0	False	22:37331398	0	T	37331398	C	T	37331398	3	4	88	1	0	0	0	0	1	0	0	0	3960	739	26	2	1359	2	CSF2RB	22	37331398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418641	37331398	13973168	20145	27857											
CSF2RB	1439	broad.mit.edu	37	chr22	37334204	37334204	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccaaggaacaatcctgTcccccctgaggccaaaagcc	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37334204T>C	ENST00000262825.5	+	14	2589	c.2372T>C	c.(2371-2373)gTc>gCc	p.V791A	CSF2RB_ENST00000403662.3_Missense_Mutation_p.V785A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V791A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V732A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	785					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AACAATCCTGTCCCCCCTGAG	0.642													False	0	True	22:37334204	0	C	37334204	T	C	37334204	3	2	88	1	0	0	0	0	1	0	0	0	3960	1667	58	4	2404	4	CSF2RB	22	37334204	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2806	37334204	13970362	20146	27858											
TMPRSS6	164656	broad.mit.edu	37	chr22	37462993	37462993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactttctgcagagcgttgCtgatggggcctgtccgtggt	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37462993C>A	ENST00000381792.2	-	18	2329	c.2189G>T	c.(2188-2190)aGc>aTc	p.S730I	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.S730I|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.S717I|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.S708I			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	717	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CAGAGCGTTGCTGATGGGGCC	0.562													False	0	False	22:37462993	0	A	37462993	C	A	37462993	3	1	88	1	0	0	0	0	1	0	0	0	16333	797	28	3	293	3	TMPRSS6	22	37462993	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128789	37462993	13841573	20147	27859											
TMPRSS6	164656	broad.mit.edu	37	chr22	37499282	37499282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataccagagtagcacccccGccgaagccagcacgagcagg	11	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37499282G>A	ENST00000381792.2	-	2	316	c.176C>T	c.(175-177)gCg>gTg	p.A59V	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A68V|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.A68V|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A59V			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	68					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TAGCACCCCCGCCGAAGCCAG	0.627													False	0	True	22:37499282	0	A	37499282	G	A	37499282	3	1	88	1	0	0	0	0	1	0	0	0	16333	1087	38	1	2300	1	TMPRSS6	22	37499282	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36289	37499282	13805284	20148	27860											
IL2RB	0	broad.mit.edu	37	chr22	37524621	37524621	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggccacaccctcatcagggtCttcctctgagtaggggtcgt	12	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37524621C>T	ENST00000216223.5	-	10	1369	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	391			D -> E (in dbSNP:rs228942).		interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCATCAGGGTCTTCCTCTGAG	0.607													False	0	False	22:37524621	0	T	37524621	C	T	37524621	3	4	88	1	0	0	0	0	1	0	0	0	7737	913	32	2	488	2	IL2RB	22	37524621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25339	37524621	13779945	20149	27861											
IL2RB	0	broad.mit.edu	37	chr22	37531435	37531435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccaaaagccccgctgaGgcccacgaggaggtggccga	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37531435G>A	ENST00000216223.5	-	8	949	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	251					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCCGCTGAGGCCCACGAGG	0.582													False	0	False	22:37531435	0	A	37531435	G	A	37531435	3	1	88	1	0	0	0	0	1	0	0	0	7737	1000	35	2	916	2	IL2RB	22	37531435	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6814	37531435	13773131	20150	27862											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578258	37578258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggccttgatgaggtggccGctgaaggtgatgtaggtgtc	17	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37578258G>A	ENST00000337843.2	-	3	882	c.807C>T	c.(805-807)agC>agT	p.S269S	C1QTNF6_ENST00000255836.6_Silent_p.S145S|C1QTNF6_ENST00000397110.2_Silent_p.S269S|C1QTNF6_ENST00000470655.1_5'UTR|RP1-151B14.6_ENST00000419128.1_RNA	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	250						collagen		p.S269S(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGAGGTGGCCGCTGAAGGTGA	0.657													False	0	False	22:37578258	0	A	37578258	G	A	37578258	2	1	88	1	0	0	0	0	0	0	0	1	1982	1078	38	1		1	C1QTNF6	22	37578258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46823	37578258	13726308	20151	27863											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578293	37578293	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcgaagtcgttgctgtAgatggcgttctcgcgctggc	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37578293A>G	ENST00000337843.2	-	3	847	c.772T>C	c.(772-774)Tac>Cac	p.Y258H	C1QTNF6_ENST00000255836.6_Missense_Mutation_p.Y134H|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.Y258H|C1QTNF6_ENST00000470655.1_5'UTR|RP1-151B14.6_ENST00000419128.1_RNA	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	239	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TCGTTGCTGTAGATGGCGTTC	0.642													False	0	False	22:37578293	0	G	37578293	A	G	37578293	3	3	88	1	0	0	0	0	1	0	0	0	1982	420	15	4	68	4	C1QTNF6	22	37578293	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35	37578293	13726273	20152	27864											
SSTR3	0	broad.mit.edu	37	chr22	37603573	37603573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccagcatgaagagctcGtcggccagcgccaggttgag	14	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37603573G>A	ENST00000328544.3	-	2	803	c.270C>T	c.(268-270)gaC>gaT	p.D90D	SSTR3_ENST00000402501.1_Silent_p.D90D	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	90					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						TGAAGAGCTCGTCGGCCAGCG	0.647													False	0	False	22:37603573	0	A	37603573	G	A	37603573	2	1	88	1	0	0	0	0	0	0	0	1	15281	1136	40	1		1	SSTR3	22	37603573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25280	37603573	13700993	20153	27865											
RAC2	5880	broad.mit.edu	37	chr22	37637646	37637646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggtggggatgtactctcCgggaaaggcgttggtggtgt	18	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37637646C>T	ENST00000249071.6	-	2	209	c.88G>A	c.(88-90)Gga>Aga	p.G30R	RAC2_ENST00000406508.1_5'UTR|RAC2_ENST00000401529.3_Missense_Mutation_p.G30R|RAC2_ENST00000405484.1_Missense_Mutation_p.G23R	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	30					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						ATGTACTCTCCGGGAAAGGCG	0.617													False	0	True	22:37637646	0	T	37637646	C	T	37637646	3	4	88	1	0	0	0	0	1	0	0	0	13054	661	23	1	510	1	RAC2	22	37637646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34073	37637646	13666920	20154	27866											
ELFN2	114794	broad.mit.edu	37	chr22	37769443	37769443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagtacagggcgggaaagCtgtgccggtgctcgctgcag	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769443C>T	ENST00000402918.2	-	3	2917	c.2132G>A	c.(2131-2133)aGc>aAc	p.S711N	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGCGGGAAAGCTGTGCCGGTG	0.716													False	0	False	22:37769443	0	T	37769443	C	T	37769443	3	4	88	1	0	0	0	0	1	0	0	0	5090	797	28	2	334	2	ELFN2	22	37769443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131797	37769443	13535123	20155	27867											
ELFN2	114794	broad.mit.edu	37	chr22	37769658	37769658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggctaaagaccttggcGctcttgatggaaccactgga	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769658G>A	ENST00000402918.2	-	3	2702	c.1917C>T	c.(1915-1917)agC>agT	p.S639S	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGACCTTGGCGCTCTTGATGG	0.652													False	0	False	22:37769658	0	A	37769658	G	A	37769658	2	1	88	1	0	0	0	0	0	0	0	1	5090	1078	38	1		1	ELFN2	22	37769658	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215	37769658	13534908	20156	27868											
ELFN2	114794	broad.mit.edu	37	chr22	37771157	37771157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcggtgggcgtcaccacctCgatgaggttgtgctggacaa	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37771157C>T	ENST00000402918.2	-	3	1203	c.418G>A	c.(418-420)Gag>Aag	p.E140K	RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2							cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GTCACCACCTCGATGAGGTTG	0.637													False	0	False	22:37771157	0	T	37771157	C	T	37771157	3	4	88	1	0	0	0	0	1	0	0	0	5090	893	31	1	2048	1	ELFN2	22	37771157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1499	37771157	13533409	20157	27869											
CARD10	29775	broad.mit.edu	37	chr22	37892461	37892461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagccagacttacccttcGagtccatcagggaggggagt	12	12	1	1	rs142113268		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37892461G>A	ENST00000403299.1	-	14	2270	c.2054C>T	c.(2053-2055)tCg>tTg	p.S685L	CARD10_ENST00000251973.5_Missense_Mutation_p.S685L|CARD10_ENST00000406271.3_Missense_Mutation_p.S399L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	685					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CTTACCCTTCGAGTCCATCAG	0.637													False	0	False	22:37892461	0	A	37892461	G	A	37892461	3	1	88	1	0	0	0	0	1	0	0	0	2664	1059	37	1	1076	1	CARD10	22	37892461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121304	37892461	13412105	20158	27870											
CDC42EP1	11135	broad.mit.edu	37	chr22	37962510	37962510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgccacaccatgcatgtgGgccgtggcggggatgtcttc	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37962510G>A	ENST00000249014.4	+	2	574	c.154G>A	c.(154-156)Ggc>Agc	p.G52S		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	52	CRIB.				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CATGCATGTGGGCCGTGGCGG	0.647													False	0	True	22:37962510	0	A	37962510	G	A	37962510	3	1	88	1	0	0	0	0	1	0	0	0	3098	1232	43	2	156	2	CDC42EP1	22	37962510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70049	37962510	13342056	20159	27871											
GGA1	26088	broad.mit.edu	37	chr22	38019351	38019351	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggaccagaagcggatggaGaagatctcgaagagggtgaa	16	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38019351G>T	ENST00000406772.1	+	9	1060	c.408G>T	c.(406-408)gaG>gaT	p.E136D	GGA1_ENST00000337437.4_Missense_Mutation_p.E176D|GGA1_ENST00000325180.8_Missense_Mutation_p.E209D|GGA1_ENST00000381756.5_Missense_Mutation_p.E226D|GGA1_ENST00000343632.4_Missense_Mutation_p.E209D	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	209	Interaction with ARF3.|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGCGGATGGAGAAGATCTCGA	0.587											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	22:38019351	0	T	38019351	G	T	38019351	3	4	88	1	0	0	0	0	1	0	0	0	6397	933	33	3	723	3	GGA1	22	38019351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56841	38019351	13285215	20160	27872											
SH3BP1	23616	broad.mit.edu	37	chr22	38038957	38038957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctggcccgcatcctggccGagtttgagatgaccctggag	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38038957G>A	ENST00000599616.1	+	3	148	c.148G>A	c.(148-150)Gag>Aag	p.E50K	SH3BP1_ENST00000357436.4_Missense_Mutation_p.E114K|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Missense_Mutation_p.E114K|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E114K			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	114	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CATCCTGGCCGAGTTTGAGAT	0.642											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	22:38038957	0	A	38038957	G	A	38038957	3	1	88	1	0	0	0	0	1	0	0	0	14325	1059	37	1	358	1	SH3BP1	22	38038957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19606	38038957	13265609	20161	27873											
SH3BP1	23616	broad.mit.edu	37	chr22	38043329	38043329	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctctgatgaccttcgacctCtatgatgactggatgagggc	11	11	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38043329C>T	ENST00000599616.1	+	10	900	c.900C>T	c.(898-900)ctC>ctT	p.L300L	SH3BP1_ENST00000357436.4_Silent_p.L364L|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Silent_p.L364L|SH3BP1_ENST00000336738.5_Silent_p.L364L			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	364	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCTTCGACCTCTATGATGACT	0.627													False	0	False	22:38043329	0	T	38043329	C	T	38043329	2	4	88	1	0	0	0	0	0	0	0	1	14325	900	32	2		2	SH3BP1	22	38043329	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4372	38043329	13261237	20162	27874											
SH3BP1	23616	broad.mit.edu	37	chr22	38043498	38043498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaagaggtgtgcagccGcctaccccccgagaacctca	9	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38043498G>A	ENST00000599616.1	+	11	977	c.977G>A	c.(976-978)cGc>cAc	p.R326H	SH3BP1_ENST00000357436.4_Missense_Mutation_p.R390H|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Missense_Mutation_p.R390H|SH3BP1_ENST00000336738.5_Missense_Mutation_p.R390H			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	390	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GTGTGCAGCCGCCTACCCCCC	0.701													False	0	False	22:38043498	0	A	38043498	G	A	38043498	3	1	88	1	0	0	0	0	1	0	0	0	14325	1087	38	1	1219	1	SH3BP1	22	38043498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169	38043498	13261068	20163	27875											
TRIOBP	11078	broad.mit.edu	37	chr22	38120147	38120147	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacgagacaaccccagaacAtcctgcgcccagcgggacaa	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38120147A>G	ENST00000406386.3	+	7	1839	c.1584A>G	c.(1582-1584)acA>acG	p.T528T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	528					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCCCAGAACATCCTGCGCCC	0.597													False	0	False	22:38120147	0	G	38120147	A	G	38120147	2	3	88	1	0	0	0	0	0	0	0	1	16636	204	8	4		4	TRIOBP	22	38120147	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	76649	38120147	13184419	20164	27876											
TRIOBP	11078	broad.mit.edu	37	chr22	38165063	38165063	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcactgaagcgagagCtgcaggtgctatcggagcag	17	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38165063C>T	ENST00000406386.3	+	20	6859	c.6604C>T	c.(6604-6606)Ctg>Ttg	p.L2202L	TRIOBP_ENST00000403663.2_Silent_p.L489L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2202					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAAGCGAGAGCTGCAGGTGCT	0.622													False	0	False	22:38165063	0	T	38165063	C	T	38165063	2	4	88	1	0	0	0	0	0	0	0	1	16636	796	28	2		2	TRIOBP	22	38165063	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44916	38165063	13139503	20165	27877											
GCAT	23464	broad.mit.edu	37	chr22	38208974	38208974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctatcccagctgttatgaCgccaacgccggcctctttga	8	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38208974C>T	ENST00000323205.6	+	3	549	c.486C>T	c.(484-486)gaC>gaT	p.D162D	GCAT_ENST00000248924.6_Silent_p.D136D|GCAT_ENST00000415371.1_3'UTR	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	136					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GCTGTTATGACGCCAACGCCG	0.567													False	0	False	22:38208974	0	T	38208974	C	T	38208974	2	4	88	1	0	0	0	0	0	0	0	1	6327	535	19	1		1	GCAT	22	38208974	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43911	38208974	13095592	20166	27878											
ANKRD54	129138	broad.mit.edu	37	chr22	38228671	38228671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtactggtcatctgcagGcgggtgcagaggtcatccag	15	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38228671G>A	ENST00000215941.4	-	7	993	c.801C>T	c.(799-801)cgC>cgT	p.R267R	ANKRD54_ENST00000406423.1_Silent_p.R147R|ANKRD54_ENST00000609454.1_Silent_p.R74R|ANKRD54_ENST00000411961.2_Silent_p.R251R|ANKRD54_ENST00000498417.1_5'UTR	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	267										lung(1)	1	Melanoma(58;0.045)					TCATCTGCAGGCGGGTGCAGA	0.617													False	0	False	22:38228671	0	A	38228671	G	A	38228671	2	1	88	1	0	0	0	0	0	0	0	1	680	1190	42	2		2	ANKRD54	22	38228671	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19697	38228671	13075895	20167	27879											
EIF3L	51386	broad.mit.edu	37	chr22	38273869	38273869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgccccaagttcctgtcGcctgtagtgcccaactatga	8	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38273869G>A	ENST00000412331.2	+	11	1848	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S	EIF3L_ENST00000406934.1_Silent_p.S324S|EIF3L_ENST00000381683.6_Silent_p.S374S	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	422						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGTTCCTGTCGCCTGTAGTGC	0.507													False	0	False	22:38273869	0	A	38273869	G	A	38273869	2	1	88	1	0	0	0	0	0	0	0	1	5054	1074	38	1		1	EIF3L	22	38273869	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45198	38273869	13030697	20168	27880											
MICALL1	85377	broad.mit.edu	37	chr22	38308394	38308394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggagctggggatccccGctctcctggaccccaatgac	12	14	1	2	rs114708609	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308394G>A	ENST00000215957.6	+	3	358	c.232G>A	c.(232-234)Gct>Act	p.A78T		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	78	CH.					cytoplasm|cytoskeleton	protein binding|zinc ion binding	p.A78T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GGGGATCCCCGCTCTCCTGGA	0.592													False	0	True	22:38308394	0	A	38308394	G	A	38308394	3	1	88	1	0	0	0	0	1	0	0	0	9640	1087	38	1	242	1	MICALL1	22	38308394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34525	38308394	12996172	20169	27881											
MICALL1	85377	broad.mit.edu	37	chr22	38308422	38308422	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggaccccaatgacatggtctCcatgagcgtccctgactgcc	10	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308422C>A	ENST00000215957.6	+	3	386	c.260C>A	c.(259-261)tCc>tAc	p.S87Y		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	87	CH.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GACATGGTCTCCATGAGCGTC	0.592													False	0	False	22:38308422	0	A	38308422	C	A	38308422	3	1	88	1	0	0	0	0	1	0	0	0	9640	855	30	3	270	3	MICALL1	22	38308422	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	38308422	12996144	20170	27882											
MICALL1	85377	broad.mit.edu	37	chr22	38308468	38308468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcatgacctatgtgtcccaGtattacaaccacttctgcag	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308468G>T	ENST00000215957.6	+	3	432	c.306G>T	c.(304-306)caG>caT	p.Q102H		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	102	CH.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ATGTGTCCCAGTATTACAACC	0.602													False	0	False	22:38308468	0	T	38308468	G	T	38308468	3	4	88	1	0	0	0	0	1	0	0	0	9640	1020	36	3	316	3	MICALL1	22	38308468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46	38308468	12996098	20171	27883											
MICALL1	85377	broad.mit.edu	37	chr22	38323737	38323737	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtccccagccagccaaGccctgcagtggcgccacccc	10	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38323737G>A	ENST00000215957.6	+	9	1911	c.1785G>A	c.(1783-1785)aaG>aaA	p.K595K	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	595	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGCCAGCCAAGCCCTGCAGTG	0.642													False	0	True	22:38323737	0	A	38323737	G	A	38323737	2	1	88	1	0	0	0	0	0	0	0	1	9640	962	34	2		2	MICALL1	22	38323737	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15269	38323737	12980829	20172	27884											
PICK1	9463	broad.mit.edu	37	chr22	38470346	38470346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctttaccgggtgagcacCggcaactatgagtaccgcct	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38470346C>T	ENST00000404072.3	+	12	1214	c.867C>T	c.(865-867)acC>acT	p.T289T	PICK1_ENST00000356976.3_Silent_p.T289T	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	289	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GGGTGAGCACCGGCAACTATG	0.672											OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	22:38470346	0	T	38470346	C	T	38470346	2	4	88	1	0	0	0	0	0	0	0	1	11950	639	23	1		1	PICK1	22	38470346	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146609	38470346	12834220	20173	27885											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38505149	38505149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcactcaccgtggaaggCacgcaggtagttgttgccca	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38505149C>T	ENST00000381669.3	-	2	262	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.A40T	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	40	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CCGTGGAAGGCACGCAGGTAG	0.637													False	0	False	22:38505149	0	T	38505149	C	T	38505149	3	4	88	1	0	0	0	0	1	0	0	0	1307	710	25	2	1523	2	BAIAP2L2	22	38505149	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34803	38505149	12799417	20174	27886											
PLA2G6	8398	broad.mit.edu	37	chr22	38512102	38512102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagggctgagctggaggcCtgaggttaacgttctggttg	17	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38512102C>A	ENST00000332509.3	-	13	2042	c.1859G>T	c.(1858-1860)aGg>aTg	p.R620M	PLA2G6_ENST00000402064.1_Missense_Mutation_p.R566M|PLA2G6_ENST00000335539.3_Missense_Mutation_p.R566M	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	620					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	AGCTGGAGGCCTGAGGTTAAC	0.582													False	0	False	22:38512102	0	A	38512102	C	A	38512102	3	1	88	1	0	0	0	0	1	0	0	0	12077	681	24	3	581	3	PLA2G6	22	38512102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6953	38512102	12792464	20175	27887											
PLA2G6	8398	broad.mit.edu	37	chr22	38516823	38516823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaactcccgcttcaggaacTcctccaggggccccgactcg	9	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38516823T>C	ENST00000332509.3	-	12	1868	c.1685A>G	c.(1684-1686)gAg>gGg	p.E562G	PLA2G6_ENST00000402064.1_Missense_Mutation_p.E508G|PLA2G6_ENST00000335539.3_Missense_Mutation_p.E508G	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	562					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTTCAGGAACTCCTCCAGGGG	0.622													False	0	False	22:38516823	0	C	38516823	T	C	38516823	3	2	88	1	0	0	0	0	1	0	0	0	12077	1551	54	4	759	4	PLA2G6	22	38516823	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4721	38516823	12787743	20176	27888											
PLA2G6	8398	broad.mit.edu	37	chr22	38531004	38531004	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatccactcacctctgcgttCttggcccagtggagggggct	13	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38531004C>A	ENST00000332509.3	-	6	1068	c.885G>T	c.(883-885)aaG>aaT	p.K295N	PLA2G6_ENST00000402064.1_Missense_Mutation_p.K295N|PLA2G6_ENST00000335539.3_Missense_Mutation_p.K295N	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	295					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCTCTGCGTTCTTGGCCCAGT	0.657													False	0	False	22:38531004	0	A	38531004	C	A	38531004	3	1	88	1	0	0	0	0	1	0	0	0	12077	912	32	3	1583	3	PLA2G6	22	38531004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14181	38531004	12773562	20177	27889											
PLA2G6	8398	broad.mit.edu	37	chr22	38531055	38531055	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgggggtctttgctgtggatCtggctgctgtccatgctgat	15	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38531055C>A	ENST00000332509.3	-	6	1017	c.834G>T	c.(832-834)caG>caT	p.Q278H	PLA2G6_ENST00000402064.1_Missense_Mutation_p.Q278H|PLA2G6_ENST00000335539.3_Missense_Mutation_p.Q278H	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	278					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TGCTGTGGATCTGGCTGCTGT	0.647													False	0	False	22:38531055	0	A	38531055	C	A	38531055	3	1	88	1	0	0	0	0	1	0	0	0	12077	912	32	3	1634	3	PLA2G6	22	38531055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51	38531055	12773511	20178	27890											
MAFF	23764	broad.mit.edu	37	chr22	38610487	38610487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaggcgctgatggggctgTcggtgcgcgagctgaaccgg	19	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38610487T>C	ENST00000338483.2	+	3	459	c.97T>C	c.(97-99)Tcg>Ccg	p.S33P	MAFF_ENST00000538320.1_Missense_Mutation_p.S33P|MAFF_ENST00000407965.1_Missense_Mutation_p.S33P|MAFF_ENST00000538999.1_Missense_Mutation_p.S4P|MAFF_ENST00000426621.2_Missense_Mutation_p.S33P			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	33					blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)	3	Melanoma(58;0.045)					GATGGGGCTGTCGGTGCGCGA	0.672													False	0	False	22:38610487	0	C	38610487	T	C	38610487	3	2	88	1	0	0	0	0	1	0	0	0	9222	1667	58	4	103	4	MAFF	22	38610487	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79432	38610487	12694079	20179	27891											
MAFF	23764	broad.mit.edu	37	chr22	38610560	38610560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggctcaagcagcggcgccGcacactcaaaaaccgtggct	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38610560G>A	ENST00000338483.2	+	3	532	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MAFF_ENST00000538320.1_Missense_Mutation_p.R57H|MAFF_ENST00000407965.1_Missense_Mutation_p.R57H|MAFF_ENST00000538999.1_Missense_Mutation_p.R28H|MAFF_ENST00000426621.2_Missense_Mutation_p.R57H			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	57					blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)	3	Melanoma(58;0.045)					CAGCGGCGCCGCACACTCAAA	0.682													False	0	False	22:38610560	0	A	38610560	G	A	38610560	3	1	88	1	0	0	0	0	1	0	0	0	9222	1087	38	1	176	1	MAFF	22	38610560	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73	38610560	12694006	20180	27892											
TMEM184B	25829	broad.mit.edu	37	chr22	38643832	38643832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagccagagatggcctgagCggcagttgtcatcaggaaca	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38643832C>T	ENST00000361906.3	-	2	344	c.136G>A	c.(136-138)Gct>Act	p.A46T	TMEM184B_ENST00000361684.4_Missense_Mutation_p.A46T	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	46						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					ATGGCCTGAGCGGCAGTTGTC	0.637													False	0	False	22:38643832	0	T	38643832	C	T	38643832	3	4	88	1	0	0	0	0	1	0	0	0	16187	768	27	1	1119	1	TMEM184B	22	38643832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33272	38643832	12660734	20181	27893											
KCNJ4	3761	broad.mit.edu	37	chr22	38823648	38823648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgccaatcatgaaggagtCgatgacgcagcccacgatgg	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38823648C>T	ENST00000303592.3	-	2	748	c.490G>A	c.(490-492)Gac>Aac	p.D164N		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	164		Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium (By similarity).			synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ATGAAGGAGTCGATGACGCAG	0.627													False	0	False	22:38823648	0	T	38823648	C	T	38823648	3	4	88	1	0	0	0	0	1	0	0	0	8103	884	31	1	851	1	KCNJ4	22	38823648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179816	38823648	12480918	20182	27894											
KCNJ4	3761	broad.mit.edu	37	chr22	38823876	38823876	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggcacccctgggctggcctCcaggtcaccgtggaagaagg	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38823876C>A	ENST00000303592.3	-	2	520	c.262G>T	c.(262-264)Gag>Tag	p.E88*		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	88					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGGCTGGCCTCCAGGTCACCG	0.672													False	0	False	22:38823876	0	A	38823876	C	A	38823876	4	1	88	1	0	0	0	0	0	1	0	0	8103	864	30	3	1079	3	KCNJ4	22	38823876	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228	38823876	12480690	20183	27895											
KDELR3	0	broad.mit.edu	37	chr22	38877488	38877488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtaggtcctgggatgacaGcaatgctgacactggcctaa	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38877488G>T	ENST00000409006.3	+	4	779	c.623G>T	c.(622-624)aGc>aTc	p.S208I	KDELR3_ENST00000471268.1_Intron|KDELR3_ENST00000216014.4_Intron	NM_016657.1	NP_057839.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	0					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TGGGATGACAGCAATGCTGAC	0.433													False	0	False	22:38877488	0	T	38877488	G	T	38877488	3	4	88	1	0	0	0	0	1	0	0	0	8171	971	34	3	637	3	KDELR3	22	38877488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53612	38877488	12427078	20184	27896											
DMC1	11144	broad.mit.edu	37	chr22	38933650	38933650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtcacaaaaacagccacGttatattctgcatcaagaga	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38933650G>A	ENST00000216024.2	-	12	1059	c.783C>T	c.(781-783)aaC>aaT	p.N261N	DMC1_ENST00000428462.2_Silent_p.N206N	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	261					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					AAACAGCCACGTTATATTCTG	0.318								Homologous recombination					False	0	False	22:38933650	0	A	38933650	G	A	38933650	2	1	88	1	0	0	0	0	0	0	0	1	4609	1136	40	1		1	DMC1	22	38933650	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56162	38933650	12370916	20185	27897											
CBY1	25776	broad.mit.edu	37	chr22	39067160	39067160	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggaggaagagaacaatctCttgcggctgaaagtggacat	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39067160C>A	ENST00000216029.3	+	4	404	c.270C>A	c.(268-270)ctC>ctA	p.L90L	RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	90	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AGAACAATCTCTTGCGGCTGA	0.567													False	0	False	22:39067160	0	A	39067160	C	A	39067160	2	1	88	1	0	0	0	0	0	0	0	1	2745	900	32	3		3	CBY1	22	39067160	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133510	39067160	12237406	20186	27898											
SUN2	25777	broad.mit.edu	37	chr22	39135889	39135889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctgaaggagccccacGcggccccctccacctcgggc	10	20	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39135889G>A	ENST00000405510.1	-	14	1774	c.1416C>T	c.(1414-1416)cgC>cgT	p.R472R	SUN2_ENST00000406622.1_Silent_p.R472R|SUN2_ENST00000405018.1_Silent_p.R493R|SUN2_ENST00000411587.2_Silent_p.R461R|SUN2_ENST00000216064.4_Silent_p.R472R|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	472					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGAGCCCCACGCGGCCCCCTC	0.622													False	0	False	22:39135889	0	A	39135889	G	A	39135889	2	1	88	1	0	0	0	0	0	0	0	1	15474	1074	38	1		1	SUN2	22	39135889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68729	39135889	12168677	20187	27899											
SUN2	25777	broad.mit.edu	37	chr22	39141701	39141701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactcacctggaaatgtggCgatgagtctctggcttccca	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39141701C>T	ENST00000405510.1	-	9	1159	c.801G>A	c.(799-801)tcG>tcA	p.S267S	SUN2_ENST00000406622.1_Silent_p.S267S|SUN2_ENST00000405018.1_Silent_p.S288S|SUN2_ENST00000411587.2_Silent_p.S256S|SUN2_ENST00000216064.4_Silent_p.S267S|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	267					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGAAATGTGGCGATGAGTCTC	0.582													False	0	False	22:39141701	0	T	39141701	C	T	39141701	2	4	88	1	0	0	0	0	0	0	0	1	15474	755	27	1		1	SUN2	22	39141701	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5812	39141701	12162865	20188	27900											
SUN2	25777	broad.mit.edu	37	chr22	39141735	39141735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccagccctcatccggcCtcctgctgtccttcgctgcc	7	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39141735C>T	ENST00000405510.1	-	9	1125	c.767G>A	c.(766-768)aGg>aAg	p.R256K	SUN2_ENST00000406622.1_Missense_Mutation_p.R256K|SUN2_ENST00000405018.1_Missense_Mutation_p.R277K|SUN2_ENST00000411587.2_Missense_Mutation_p.R245K|SUN2_ENST00000216064.4_Missense_Mutation_p.R256K|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	256					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CTCATCCGGCCTCCTGCTGTC	0.567													False	0	False	22:39141735	0	T	39141735	C	T	39141735	3	4	88	1	0	0	0	0	1	0	0	0	15474	681	24	2	1430	2	SUN2	22	39141735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34	39141735	12162831	20189	27901											
DNAL4	10126	broad.mit.edu	37	chr22	39176946	39176946	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatacctcgttgttgttggaGaatttctcacaggctgtgac	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39176946G>T	ENST00000216068.4	-	3	382	c.138C>A	c.(136-138)ttC>ttA	p.F46L	DNAL4_ENST00000406199.3_Missense_Mutation_p.F46L|SUN2_ENST00000406622.1_Intron|DNAL4_ENST00000486019.1_Intron	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4	46					microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity			lung(1)|skin(1)	2	Melanoma(58;0.04)					TGTTGTTGGAGAATTTCTCAC	0.557													False	0	False	22:39176946	0	T	39176946	G	T	39176946	3	4	88	1	0	0	0	0	1	0	0	0	4688	933	33	3	187	3	DNAL4	22	39176946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35211	39176946	12127620	20190	27902											
APOBEC3B	9582	broad.mit.edu	37	chr22	39387493	39387493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgtgccggggaagtgCgtgcgttccttcaggagaac	18	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39387493C>T	ENST00000402182.3	+	6	935	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R294C|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R269C			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	294					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CGGGGAAGTGCGTGCGTTCCT	0.582													False	0	True	22:39387493	0	T	39387493	C	T	39387493	3	4	88	1	0	0	0	0	1	0	0	0	792	768	27	1	902	1	APOBEC3B	22	39387493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210547	39387493	11917073	20191	27903											
APOBEC3D	140564	broad.mit.edu	37	chr22	39418964	39418964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaatctcctttgggacaCaggggtctttcgaggcccgg	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39418964C>T	ENST00000216099.8	+	2	562	c.155C>T	c.(154-156)aCa>aTa	p.T52I	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.T52I|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.T52I	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D						negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTTTGGGACACAGGGGTCTTT	0.493													False	0	False	22:39418964	0	T	39418964	C	T	39418964	3	4	88	1	0	0	0	0	1	0	0	0	794	478	17	2	161	2	APOBEC3D	22	39418964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31471	39418964	11885602	20192	27904											
APOBEC3G	60489	broad.mit.edu	37	chr22	39482486	39482486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgcatcttcactgcccGcatctatgatgatcaaggaa	8	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39482486G>A	ENST00000407997.3	+	6	1295	c.938G>A	c.(937-939)cGc>cAc	p.R313H	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R313H	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TTCACTGCCCGCATCTATGAT	0.512													False	0	True	22:39482486	0	A	39482486	G	A	39482486	3	1	88	1	0	0	0	0	1	0	0	0	796	1087	38	1	960	1	APOBEC3G	22	39482486	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63522	39482486	11822080	20193	27905											
PDGFB	5155	broad.mit.edu	37	chr22	39629477	39629477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagccaagctctccagctcGcctccagagtgggagcgggt	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39629477G>A	ENST00000331163.6	-	3	1000	c.213C>T	c.(211-213)ggC>ggT	p.G71G	PDGFB_ENST00000381551.4_Silent_p.G56G	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	71					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	TCTCCAGCTCGCCTCCAGAGT	0.597			T	COL1A1	DFSP								False	0	False	22:39629477	0	A	39629477	G	A	39629477	2	1	88	1	0	0	0	0	0	0	0	1	11726	1074	38	1		1	PDGFB	22	39629477	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146991	39629477	11675089	20194	27906											
SYNGR1	9145	broad.mit.edu	37	chr22	39770548	39770548	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagccgtcctgtccgacatCggtgtctcgggtgagcccca	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39770548C>T	ENST00000328933.5	+	2	342	c.327C>T	c.(325-327)atC>atT	p.I109I	SYNGR1_ENST00000381535.4_Silent_p.I110I|SYNGR1_ENST00000216155.7_Silent_p.I109I|SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000406293.3_Silent_p.I109I	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TGTCCGACATCGGTGTCTCGG	0.632													False	0	False	22:39770548	0	T	39770548	C	T	39770548	2	4	88	1	0	0	0	0	0	0	0	1	15530	874	31	1		1	SYNGR1	22	39770548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141071	39770548	11534018	20195	27907											
SYNGR1	9145	broad.mit.edu	37	chr22	39777719	39777719	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcgggccaggctgtgctgGccttccagcggtaccagatt	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39777719G>T	ENST00000328933.5	+	4	517	c.502G>T	c.(502-504)Gcc>Tcc	p.A168S		NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GGCTGTGCTGGCCTTCCAGCG	0.652													False	0	False	22:39777719	0	T	39777719	G	T	39777719	3	4	88	1	0	0	0	0	1	0	0	0	15530	1203	42	3	719	3	SYNGR1	22	39777719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7171	39777719	11526847	20196	27908											
TAB1	10454	broad.mit.edu	37	chr22	39822803	39822803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgaagcgcatccacagCgacaccttcgccagtggtgg	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39822803C>T	ENST00000216160.6	+	9	1079	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	TAB1_ENST00000331454.3_Silent_p.S339S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	339	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GCATCCACAGCGACACCTTCG	0.627													False	0	False	22:39822803	0	T	39822803	C	T	39822803	2	4	88	1	0	0	0	0	0	0	0	1	15577	767	27	1		1	TAB1	22	39822803	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45084	39822803	11481763	20197	27909											
MGAT3	4248	broad.mit.edu	37	chr22	39883623	39883623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccgcccagcaaggcggccGaggagctccaccgggtggac	16	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39883623G>A	ENST00000341184.6	+	2	486	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	91					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CAAGGCGGCCGAGGAGCTCCA	0.697													False	0	False	22:39883623	0	A	39883623	G	A	39883623	3	1	88	1	0	0	0	0	1	0	0	0	9611	1059	37	1	273	1	MGAT3	22	39883623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60820	39883623	11420943	20198	27910											
CACNA1I	8911	broad.mit.edu	37	chr22	39966944	39966944	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctattgccttcttctgcctgCgacagaccaccagcccccgg	8	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39966944C>T	ENST00000336649.4	+	1	187	c.187C>T	c.(187-189)Cga>Tga	p.R63*	CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000402142.3_Nonsense_Mutation_p.R63*			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	63					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTTCTGCCTGCGACAGACCAC	0.652													False	0	True	22:39966944	0	T	39966944	C	T	39966944	4	4	88	1	0	0	0	0	0	1	0	0	2566	760	27	1	189	1	CACNA1I	22	39966944	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83321	39966944	11337622	20199	27911											
CACNA1I	8911	broad.mit.edu	37	chr22	40060787	40060787	+	Missense_Mutation	SNP	G	G	A													cggcgagcaggcgtacctacGcagcagctggaacgtgctgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060787G>A	ENST00000336649.4	+	24	3728	c.3728G>A	c.(3727-3729)cGc>cAc	p.R1243H	CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1202H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1202H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1237H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1202H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1237H			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1237					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCGTACCTACGCAGCAGCTGG	0.682													False	0	False	22:40060787	0	A	40060787	G	A	40060787	3	1	88	1	0	0	0	0	1	0	0	0	2566	1087	38	1	3792	1	CACNA1I	22	40060787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93843	40060787	11243779	20200	27912	291	2									
CACNA1I	8911	broad.mit.edu	37	chr22	40060793	40060793	+	Missense_Mutation	SNP	G	G	T													gcaggcgtacctacgcagcaGctggaacgtgctggatggct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060793G>T	ENST00000336649.4	+	24	3734	c.3734G>T	c.(3733-3735)aGc>aTc	p.S1245I	CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1204I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1204I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1239I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1204I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S1239I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1239					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTACGCAGCAGCTGGAACGTG	0.677													False	0	False	22:40060793	0	T	40060793	G	T	40060793	3	4	88	1	0	0	0	0	1	0	0	0	2566	971	34	3	3798	3	CACNA1I	22	40060793	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	40060793	11243773	20201	27913	291	2									
CACNA1I	8911	broad.mit.edu	37	chr22	40060864	40060864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtccctggcctcagccGggggagccaagatcttgggg	17	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060864G>A	ENST00000336649.4	+	24	3805	c.3805G>A	c.(3805-3807)Ggg>Agg	p.G1269R	CACNA1I_ENST00000407673.1_Missense_Mutation_p.G1228R|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G1228R|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G1263R|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G1228R|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G1263R			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1263					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGCCTCAGCCGGGGGAGCCAA	0.647													False	0	True	22:40060864	0	A	40060864	G	A	40060864	3	1	88	1	0	0	0	0	1	0	0	0	2566	1116	39	1	3869	1	CACNA1I	22	40060864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71	40060864	11243702	20202	27914											
GRAP2	9402	broad.mit.edu	37	chr22	40367030	40367030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcctggtggaccggccGcctgcacaacaagctgggcc	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40367030G>A	ENST00000344138.4	+	8	1198	c.935G>A	c.(934-936)cGc>cAc	p.R312H	GRAP2_ENST00000544756.1_Missense_Mutation_p.R240H|GRAP2_ENST00000543252.1_Missense_Mutation_p.R260H|GRAP2_ENST00000540310.1_Missense_Mutation_p.R246H|GRAP2_ENST00000399090.2_Missense_Mutation_p.R199H|GRAP2_ENST00000407075.3_Missense_Mutation_p.R312H	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	312	SH3 2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGGACCGGCCGCCTGCACAAC	0.597													False	0	False	22:40367030	0	A	40367030	G	A	40367030	3	1	88	1	0	0	0	0	1	0	0	0	6801	1087	38	1	961	1	GRAP2	22	40367030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	306166	40367030	10937536	20203	27915											
GRAP2	9402	broad.mit.edu	37	chr22	40367084	40367084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacgtggcacccatgacccGataaactcttcaggggacag	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40367084G>A	ENST00000344138.4	+	8	1252	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	GRAP2_ENST00000544756.1_Missense_Mutation_p.R258Q|GRAP2_ENST00000543252.1_Missense_Mutation_p.R278Q|GRAP2_ENST00000540310.1_Missense_Mutation_p.R264Q|GRAP2_ENST00000399090.2_Missense_Mutation_p.R217Q|GRAP2_ENST00000407075.3_Missense_Mutation_p.R330Q	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	330	SH3 2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCATGACCCGATAAACTCTT	0.537													False	0	True	22:40367084	0	A	40367084	G	A	40367084	3	1	88	1	0	0	0	0	1	0	0	0	6801	1058	37	1	1015	1	GRAP2	22	40367084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	40367084	10937482	20204	27916											
FAM83F	113828	broad.mit.edu	37	chr22	40417900	40417900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccagctctgtctccacCgagacctctgaagtggagtt	11	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40417900C>T	ENST00000333407.6	+	4	1480	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	FAM83F_ENST00000473717.1_Silent_p.T294T	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F											breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTGTCTCCACCGAGACCTCTG	0.657													False	0	False	22:40417900	0	T	40417900	C	T	40417900	2	4	88	1	0	0	0	0	0	0	0	1	5678	639	23	1		1	FAM83F	22	40417900	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50816	40417900	10886666	20205	27917											
TNRC6B	23112	broad.mit.edu	37	chr22	40661292	40661292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcaaagatggaaaatgCgggtgttaattttgttgtct	12	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40661292C>T	ENST00000454349.2	+	5	1269	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	TNRC6B_ENST00000335727.9_Missense_Mutation_p.A353V|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	353					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ATGGAAAATGCGGGTGTTAAT	0.418													False	0	True	22:40661292	0	T	40661292	C	T	40661292	3	4	88	1	0	0	0	0	1	0	0	0	16423	768	27	1	1197	1	TNRC6B	22	40661292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243392	40661292	10643274	20206	27918											
ADSL	158	broad.mit.edu	37	chr22	40749110	40749110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagaaatgcacttgacctgCttttgccaaaggtaaggagt	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40749110C>T	ENST00000216194.7	+	3	447	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	ADSL_ENST00000454266.2_Intron|ADSL_ENST00000342312.6_Missense_Mutation_p.L131F	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	131					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ACTTGACCTGCTTTTGCCAAA	0.363													False	0	True	22:40749110	0	T	40749110	C	T	40749110	3	4	88	1	0	0	0	0	1	0	0	0	346	797	28	2	401	2	ADSL	22	40749110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87818	40749110	10555456	20207	27919											
ADSL	158	broad.mit.edu	37	chr22	40754974	40754974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgacctgcgcttccggGgagtaaagggtaccactggc	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40754974G>A	ENST00000216194.7	+	5	645	c.589G>A	c.(589-591)Gga>Aga	p.G197R	ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000454266.2_Missense_Mutation_p.G211R|ADSL_ENST00000342312.6_Missense_Mutation_p.G197R	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	197					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GCGCTTCCGGGGAGTAAAGGG	0.512													False	0	True	22:40754974	0	A	40754974	G	A	40754974	3	1	88	1	0	0	0	0	1	0	0	0	346	1233	43	2	607	2	ADSL	22	40754974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5864	40754974	10549592	20208	27920											
SGSM3	27352	broad.mit.edu	37	chr22	40803436	40803436	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgactccagactataGcatggagagccaccagcggg	14	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40803436G>T	ENST00000248929.9	+	13	1577	c.1388G>T	c.(1387-1389)aGc>aTc	p.S463I	SGSM3_ENST00000454798.2_Missense_Mutation_p.S396I	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	463					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCAGACTATAGCATGGAGAGC	0.642													False	0	False	22:40803436	0	T	40803436	G	T	40803436	3	4	88	1	0	0	0	0	1	0	0	0	14305	971	34	3	1434	3	SGSM3	22	40803436	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48462	40803436	10501130	20209	27921											
MKL1	57591	broad.mit.edu	37	chr22	40814828	40814828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctgccggagcatgcgCgtcagcgcctcgatctgctt	12	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40814828C>T	ENST00000396617.3	-	12	2204	c.1614G>A	c.(1612-1614)acG>acA	p.T538T	MKL1_ENST00000407029.1_Silent_p.T538T|MKL1_ENST00000402042.1_Silent_p.T488T|MKL1_ENST00000355630.3_Silent_p.T538T	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	538					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGAGCATGCGCGTCAGCGCCT	0.706			T	RBM15	acute megakaryocytic leukemia								False	0	False	22:40814828	0	T	40814828	C	T	40814828	2	4	88	1	0	0	0	0	0	0	0	1	9668	755	27	1		1	MKL1	22	40814828	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11392	40814828	10489738	20210	27922											
MKL1	57591	broad.mit.edu	37	chr22	40817021	40817021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggatgtactggtggtaCttgagcttcttcacctttgg	15	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40817021C>T	ENST00000396617.3	-	10	1301	c.711G>A	c.(709-711)aaG>aaA	p.K237K	MKL1_ENST00000407029.1_Silent_p.K237K|MKL1_ENST00000402042.1_Silent_p.K187K|MKL1_ENST00000355630.3_Silent_p.K237K	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	237	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACTGGTGGTACTTGAGCTTCT	0.592			T	RBM15	acute megakaryocytic leukemia								False	0	False	22:40817021	0	T	40817021	C	T	40817021	2	4	88	1	0	0	0	0	0	0	0	1	9668	564	20	2		2	MKL1	22	40817021	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2193	40817021	10487545	20211	27923											
MCHR1	0	broad.mit.edu	37	chr22	41076968	41076968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggatcacctcctcgcaCggggagcatctcctacatca	8	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41076968C>T	ENST00000249016.4	+	2	1001	c.305C>T	c.(304-306)aCg>aTg	p.T102M	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.T102M	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	102					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CCTCCTCGCACGGGGAGCATC	0.577													False	0	True	22:41076968	0	T	41076968	C	T	41076968	3	4	88	1	0	0	0	0	1	0	0	0	9449	536	19	1	311	1	MCHR1	22	41076968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	259947	41076968	10227598	20212	27924											
MCHR1	0	broad.mit.edu	37	chr22	41077050	41077050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcatcgggaactccacGgtcatcttcgcggtcgtgaa	12	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41077050G>A	ENST00000249016.4	+	2	1083	c.387G>A	c.(385-387)acG>acA	p.T129T	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Silent_p.T129T	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	129					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GGAACTCCACGGTCATCTTCG	0.552													False	0	False	22:41077050	0	A	41077050	G	A	41077050	2	1	88	1	0	0	0	0	0	0	0	1	9449	1103	39	1		1	MCHR1	22	41077050	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82	41077050	10227516	20213	27925											
SLC25A17	10478	broad.mit.edu	37	chr22	41166939	41166939	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagtgaggactgtctgcaGcagtttggcttcaaggcctt	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41166939G>T	ENST00000402844.3	-	5	1557	c.577C>A	c.(577-579)Ctg>Atg	p.L193M	SLC25A17_ENST00000435456.2_Missense_Mutation_p.L275M|SLC25A17_ENST00000542412.1_Missense_Mutation_p.L202M|SLC25A17_ENST00000544408.1_Missense_Mutation_p.L238M|SLC25A17_ENST00000491545.1_5'UTR			O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	275					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						ACTGTCTGCAGCAGTTTGGCT	0.468													False	0	False	22:41166939	0	T	41166939	G	T	41166939	3	4	88	1	0	0	0	0	1	0	0	0	14559	962	34	3	104	3	SLC25A17	22	41166939	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89889	41166939	10137627	20214	27926											
ST13	6767	broad.mit.edu	37	chr22	41252472	41252472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaagcgcatttcctcggTgtgcagaacgctcggatcct	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41252472T>C	ENST00000216218.3	-	1	554	c.73A>G	c.(73-75)Acc>Gcc	p.T25A		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	25							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						ATTTCCTCGGTGTGCAGAACG	0.642													False	0	False	22:41252472	0	C	41252472	T	C	41252472	3	2	88	1	0	0	0	0	1	0	0	0	15292	1696	59	4	1084	4	ST13	22	41252472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	85533	41252472	10052094	20215	27927											
DNAJB7	150353	broad.mit.edu	37	chr22	41257476	41257476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcccactattatcaaaagCcagggaagagaaagaagtaa	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41257476C>T	ENST00000307221.4	-	1	654	c.523G>A	c.(523-525)Gct>Act	p.A175T	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	175					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTATCAAAAGCCAGGGAAGAG	0.338													False	0	False	22:41257476	0	T	41257476	C	T	41257476	3	4	88	1	0	0	0	0	1	0	0	0	4655	739	26	2	410	2	DNAJB7	22	41257476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5004	41257476	10047090	20216	27928											
XPNPEP3	63929	broad.mit.edu	37	chr22	41282489	41282489	+	Silent	SNP	A	A	C													tctcctgcagaaattgaacgAatgcagattgctgggaagct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41282489A>C	ENST00000357137.4	+	4	846	c.762A>C	c.(760-762)cgA>cgC	p.R254R	XPNPEP3_ENST00000541156.1_Silent_p.R254R|XPNPEP3_ENST00000414396.1_Silent_p.R254R|XPNPEP3_ENST00000544094.1_Silent_p.R231R	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	254					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						AAATTGAACGAATGCAGATTG	0.522													False	0	False	22:41282489	0	C	41282489	A	C	41282489	2	2	88	1	0	0	0	0	0	0	0	1	17528	233	9	4		4	XPNPEP3	22	41282489	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25013	41282489	10022077	20217	27929	292	2									
XPNPEP3	63929	broad.mit.edu	37	chr22	41282496	41282496	+	Missense_Mutation	SNP	A	A	G													cagaaattgaacgaatgcagAttgctgggaagctgacatca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41282496A>G	ENST00000357137.4	+	4	853	c.769A>G	c.(769-771)Att>Gtt	p.I257V	XPNPEP3_ENST00000541156.1_Missense_Mutation_p.I257V|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.I257V|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I234V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	257					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ACGAATGCAGATTGCTGGGAA	0.527													False	0	False	22:41282496	0	G	41282496	A	G	41282496	3	3	88	1	0	0	0	0	1	0	0	0	17528	333	12	4	783	4	XPNPEP3	22	41282496	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7	41282496	10022070	20218	27930	292	2									
EP300	2033	broad.mit.edu	37	chr22	41513320	41513320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatggtacaagatgcagCttctaaacataaacagctgt	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41513320C>T	ENST00000263253.7	+	2	1443	c.224C>T	c.(223-225)gCt>gTt	p.A75V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	75	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAGATGCAGCTTCTAAACAT	0.458			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				False	0	False	22:41513320	0	T	41513320	C	T	41513320	3	4	88	1	0	0	0	0	1	0	0	0	5180	797	28	2	230	2	EP300	22	41513320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230824	41513320	9791246	20219	27931											
EP300	2033	broad.mit.edu	37	chr22	41572357	41572357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgatggatggtcgggatgCgtttctcacgctggcaaggg	16	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41572357C>T	ENST00000263253.7	+	30	6105	c.4886C>T	c.(4885-4887)gCg>gTg	p.A1629V	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1629	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.A1629V(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGTCGGGATGCGTTTCTCACG	0.582			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				False	0	False	22:41572357	0	T	41572357	C	T	41572357	3	4	88	1	0	0	0	0	1	0	0	0	5180	768	27	1	5004	1	EP300	22	41572357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59037	41572357	9732209	20220	27932											
EP300	2033	broad.mit.edu	37	chr22	41574502	41574502	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctacaggcctatcagcagCgactccttcagcaacagatg	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41574502C>T	ENST00000263253.7	+	31	8006	c.6787C>T	c.(6787-6789)Cga>Tga	p.R2263*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2263					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTATCAGCAGCGACTCCTTCA	0.577			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				False	0	False	22:41574502	0	T	41574502	C	T	41574502	4	4	88	1	0	0	0	0	0	1	0	0	5180	760	27	1	6909	1	EP300	22	41574502	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2145	41574502	9730064	20221	27933											
L3MBTL2	83746	broad.mit.edu	37	chr22	41620065	41620065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttaggcagggcatgcgGctggaagtggtggacaagtc	16	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41620065G>A	ENST00000216237.5	+	9	1142	c.984G>A	c.(982-984)cgG>cgA	p.R328R		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	328					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGCATGCGGCTGGAAGTGG	0.597													False	0	False	22:41620065	0	A	41620065	G	A	41620065	2	1	88	1	0	0	0	0	0	0	0	1	8643	1190	42	2		2	L3MBTL2	22	41620065	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45563	41620065	9684501	20222	27934											
L3MBTL2	83746	broad.mit.edu	37	chr22	41621043	41621043	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggccattgaccccctgaatCtgggcaacatctgcgtggca	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41621043C>A	ENST00000216237.5	+	11	1482	c.1324C>A	c.(1324-1326)Ctg>Atg	p.L442M		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	442					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCCCTGAATCTGGGCAACAT	0.587													False	0	False	22:41621043	0	A	41621043	C	A	41621043	3	1	88	1	0	0	0	0	1	0	0	0	8643	912	32	3	1366	3	L3MBTL2	22	41621043	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	978	41621043	9683523	20223	27935											
RANGAP1	5905	broad.mit.edu	37	chr22	41645753	41645753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagcagacccatgtgcaCgagcagcctggtgaggaagg	15	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41645753C>T	ENST00000455915.2	-	13	3021	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	RANGAP1_ENST00000356244.3_Missense_Mutation_p.V518M|RANGAP1_ENST00000405486.1_Missense_Mutation_p.V518M|RANGAP1_ENST00000407260.4_Missense_Mutation_p.V463M			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	518					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCATGTGCACGAGCAGCCTG	0.627													False	0	False	22:41645753	0	T	41645753	C	T	41645753	3	4	88	1	0	0	0	0	1	0	0	0	13112	536	19	1	223	1	RANGAP1	22	41645753	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24710	41645753	9658813	20224	27936											
ZC3H7B	23264	broad.mit.edu	37	chr22	41723231	41723231	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcctgtatgagaaggcgctgGaggacagcgagaaggcgctg	18	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41723231G>T	ENST00000352645.4	+	5	564	c.307G>T	c.(307-309)Gag>Tag	p.E103*	ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.E103*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	103					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GAAGGCGCTGGAGGACAGCGA	0.627													False	0	False	22:41723231	0	T	41723231	G	T	41723231	4	4	88	1	0	0	0	0	0	1	0	0	17656	1175	41	3	321	3	ZC3H7B	22	41723231	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77478	41723231	9581335	20225	27937											
ZC3H7B	23264	broad.mit.edu	37	chr22	41742154	41742154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggggtgttaagcgcggcaGcctcaccatcgccaagctcc	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41742154G>T	ENST00000352645.4	+	14	1864	c.1607G>T	c.(1606-1608)aGc>aTc	p.S536I	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S536I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	552					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AAGCGCGGCAGCCTCACCATC	0.647													False	0	False	22:41742154	0	T	41742154	G	T	41742154	3	4	88	1	0	0	0	0	1	0	0	0	17656	971	34	3	1657	3	ZC3H7B	22	41742154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18923	41742154	9562412	20226	27938											
ZC3H7B	23264	broad.mit.edu	37	chr22	41747608	41747608	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagtctaagaagtactgGcagcagatggaggcgcatgc	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41747608G>A	ENST00000352645.4	+	17	2249	c.1992G>A	c.(1990-1992)tgG>tgA	p.W664*	ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.W664*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	680					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGAAGTACTGGCAGCAGATGG	0.532													False	0	False	22:41747608	0	A	41747608	G	A	41747608	4	1	88	1	0	0	0	0	0	1	0	0	17656	1212	42	2	2054	2	ZC3H7B	22	41747608	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5454	41747608	9556958	20227	27939											
ZC3H7B	23264	broad.mit.edu	37	chr22	41753416	41753416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgctgctgctgccaccGccaccactggggagtagggc	13	17	0	0	rs140753362		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41753416G>A	ENST00000352645.4	+	23	3174	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A973T	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	989					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGCTGCCACCGCCACCACTGG	0.662													False	0	True	22:41753416	0	A	41753416	G	A	41753416	3	1	88	1	0	0	0	0	1	0	0	0	17656	1087	38	1	3003	1	ZC3H7B	22	41753416	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5808	41753416	9551150	20228	27940											
TEF	7008	broad.mit.edu	37	chr22	41790200	41790200	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaccccgccgacctggtgctCtccagtgtgccaggcgggga	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41790200C>T	ENST00000266304.4	+	3	692	c.576C>T	c.(574-576)ctC>ctT	p.L192L	TEF_ENST00000406644.3_Silent_p.L162L	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	192	Pro-rich (proline/acidic region (PAR)).				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACCTGGTGCTCTCCAGTGTGC	0.567													False	0	False	22:41790200	0	T	41790200	C	T	41790200	2	4	88	1	0	0	0	0	0	0	0	1	15832	900	32	2		2	TEF	22	41790200	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36784	41790200	9514366	20229	27941											
XRCC6	2547	broad.mit.edu	37	chr22	42033677	42033677	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acatatccttgttctacagaGatatcatcagcatagcagag	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42033677G>T	ENST00000359308.4	+	5	1310	c.655G>T	c.(655-657)Gat>Tat	p.D219Y	XRCC6_ENST00000405506.1_Missense_Mutation_p.D169Y|XRCC6_ENST00000402580.3_Missense_Mutation_p.D178Y|XRCC6_ENST00000428575.2_Missense_Mutation_p.D86Y|XRCC6_ENST00000405878.1_Missense_Mutation_p.D219Y|XRCC6_ENST00000360079.3_Missense_Mutation_p.D219Y			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	219					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GTTCTACAGAGATATCATCAG	0.488								Non-homologous end-joining					False	0	False	22:42033677	0	T	42033677	G	T	42033677	3	4	88	1	0	0	0	0	1	0	0	0	17541	942	33	3	673	3	XRCC6	22	42033677	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243477	42033677	9270889	20230	27942											
MEI1	150365	broad.mit.edu	37	chr22	42095601	42095601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggagagaggaagaggCggcgcttctattcgagaggg	18	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42095601C>T	ENST00000401548.3	+	1	99	c.59C>T	c.(58-60)gCg>gTg	p.A20V	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	20							binding	p.A20V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAGGAAGAGGCGGCGCTTCTA	0.721													False	0	False	22:42095601	0	T	42095601	C	T	42095601	3	4	88	1	0	0	0	0	1	0	0	0	9532	768	27	1	61	1	MEI1	22	42095601	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61924	42095601	9208965	20231	27943											
MEI1	150365	broad.mit.edu	37	chr22	42128307	42128307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgaacaacatagagctGcacaagcagggcctgctgct	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42128307G>A	ENST00000401548.3	+	10	1195	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Silent_p.L125L|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	385							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACATAGAGCTGCACAAGCAGG	0.557													False	0	False	22:42128307	0	A	42128307	G	A	42128307	2	1	88	1	0	0	0	0	0	0	0	1	9532	1306	46	2		2	MEI1	22	42128307	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32706	42128307	9176259	20232	27944											
MEI1	150365	broad.mit.edu	37	chr22	42128519	42128519	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagctcagccatgtgcagaGatgctggccgtgccctccaa	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42128519G>T	ENST00000401548.3	+	11	1283	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.D155Y|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	415							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATGTGCAGAGATGCTGGCCG	0.552													False	0	False	22:42128519	0	T	42128519	G	T	42128519	3	4	88	1	0	0	0	0	1	0	0	0	9532	942	33	3	1285	3	MEI1	22	42128519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212	42128519	9176047	20233	27945											
MEI1	150365	broad.mit.edu	37	chr22	42154490	42154490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgctcgccagagacaGtactgcatcctgctcctctt	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42154490G>A	ENST00000401548.3	+	18	2113	c.2073G>A	c.(2071-2073)caG>caA	p.Q691Q	MEI1_ENST00000540880.1_Silent_p.Q9Q|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Silent_p.Q431Q|MEI1_ENST00000400107.1_Silent_p.Q59Q	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	691							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCAGAGACAGTACTGCATCC	0.577													False	0	False	22:42154490	0	A	42154490	G	A	42154490	2	1	88	1	0	0	0	0	0	0	0	1	9532	1020	36	2		2	MEI1	22	42154490	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25971	42154490	9150076	20234	27946											
CCDC134	79879	broad.mit.edu	37	chr22	42209411	42209411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttctgcaaccagacaggcGtcttcaaccaggggccccac	10	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42209411G>A	ENST00000255784.5	+	5	558	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	152						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CCAGACAGGCGTCTTCAACCA	0.597													False	0	False	22:42209411	0	A	42209411	G	A	42209411	3	1	88	1	0	0	0	0	1	0	0	0	2788	1145	40	1	468	1	CCDC134	22	42209411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54921	42209411	9095155	20235	27947											
SREBF2	6721	broad.mit.edu	37	chr22	42266957	42266957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacactgaagacagatgGcagccctgttatggctgcgg	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42266957G>A	ENST00000361204.4	+	4	951	c.785G>A	c.(784-786)gGc>gAc	p.G262D		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	262	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AAGACAGATGGCAGCCCTGTT	0.537													False	0	False	22:42266957	0	A	42266957	G	A	42266957	3	1	88	1	0	0	0	0	1	0	0	0	15224	1203	42	2	799	2	SREBF2	22	42266957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57546	42266957	9037609	20236	27948											
TNFRSF13C	115650	broad.mit.edu	37	chr22	42321490	42321490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcttccccaggaggagGccaggcaggagctgtggcat	17	10	1	0	rs151243201	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42321490G>T	ENST00000291232.3	-	3	480	c.436C>A	c.(436-438)Cct>Act	p.P146T		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	146						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						CCAGGAGGAGGCCAGGCAGGA	0.637													False	0	True	22:42321490	0	T	42321490	G	T	42321490	3	4	88	1	0	0	0	0	1	0	0	0	16370	1203	42	3	122	3	TNFRSF13C	22	42321490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54533	42321490	8983076	20237	27949											
WBP2NL	164684	broad.mit.edu	37	chr22	42416055	42416055	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aattagtcttcagaaatggaGatgccattgaatttgcccag	9	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42416055G>T	ENST00000328823.9	+	4	392	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	WBP2NL_ENST00000543212.1_Missense_Mutation_p.D47Y	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	121			D -> G (in dbSNP:rs133335).		egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CAGAAATGGAGATGCCATTGA	0.428													False	0	False	22:42416055	0	T	42416055	G	T	42416055	3	4	88	1	0	0	0	0	1	0	0	0	17344	942	33	3	375	3	WBP2NL	22	42416055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94565	42416055	8888511	20238	27950											
WBP2NL	164684	broad.mit.edu	37	chr22	42422788	42422788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttattgtctatggagcccCacctgcaggatatggagccc	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42422788C>A	ENST00000328823.9	+	6	564	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	WBP2NL_ENST00000543212.1_Missense_Mutation_p.P104Q	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	178	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TATGGAGCCCCACCTGCAGGA	0.468													False	0	True	22:42422788	0	A	42422788	C	A	42422788	3	1	88	1	0	0	0	0	1	0	0	0	17344	594	21	3	555	3	WBP2NL	22	42422788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6733	42422788	8881778	20239	27951											
NDUFA6	4700	broad.mit.edu	37	chr22	42482233	42482233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggataggaaatcctttggcCttggcgcttctgtttcatgg	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42482233C>A	ENST00000498737.2	-	3	551	c.419G>T	c.(418-420)aGg>aTg	p.R140M	NDUFA6_ENST00000470753.1_Missense_Mutation_p.R57M|NDUFA6_ENST00000602404.1_Missense_Mutation_p.R114M	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	140					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5					NADH(DB00157)	ATCCTTTGGCCTTGGCGCTTC	0.428													False	0	False	22:42482233	0	A	42482233	C	A	42482233	3	1	88	1	0	0	0	0	1	0	0	0	10337	681	24	3	49	3	NDUFA6	22	42482233	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59445	42482233	8822333	20240	27952											
CYP2D6	1565	broad.mit.edu	37	chr22	42525823	42525823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgccgtgggtcaccagcGcctcgcgcacggccgccagc	13	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42525823G>A	ENST00000360608.5	-	2	383	c.269C>T	c.(268-270)gCg>gTg	p.A90V	CYP2D6_ENST00000359033.4_Missense_Mutation_p.A90V|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A90V	NM_000106.5	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	90							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTCACCAGCGCCTCGCGCAC	0.716													False	0	False	22:42525823	0	A	42525823	G	A	42525823	3	1	88	1	0	0	0	0	1	0	0	0	4194	1087	38	1	1256	1	CYP2D6	22	42525823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43590	42525823	8778743	20241	27953											
TCF20	6942	broad.mit.edu	37	chr22	42605786	42605786	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgtcaagaggtagttcaggGatttgtaactccagctcagg	12	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42605786G>T	ENST00000359486.3	-	1	5662	c.5526C>A	c.(5524-5526)atC>atA	p.I1842I	TCF20_ENST00000335626.4_Silent_p.I1842I|TCF20_ENST00000404876.1_Silent_p.I143I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTAGTTCAGGGATTTGTAACT	0.517													False	0	True	22:42605786	0	T	42605786	G	T	42605786	2	4	88	1	0	0	0	0	0	0	0	1	15772	1164	41	3		3	TCF20	22	42605786	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79963	42605786	8698780	20242	27954											
TCF20	6942	broad.mit.edu	37	chr22	42607439	42607439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattgaatgctttatcagcGccttcttttgatgagtgaag	10	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42607439G>A	ENST00000359486.3	-	1	4009	c.3873C>T	c.(3871-3873)ggC>ggT	p.G1291G	TCF20_ENST00000335626.4_Silent_p.G1291G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTTATCAGCGCCTTCTTTTG	0.428													False	0	False	22:42607439	0	A	42607439	G	A	42607439	2	1	88	1	0	0	0	0	0	0	0	1	15772	1074	38	1		1	TCF20	22	42607439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1653	42607439	8697127	20243	27955											
TCF20	6942	broad.mit.edu	37	chr22	42609324	42609324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccattcttgtttcctttgCtccctcctcctcctggaggc	7	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609324C>T	ENST00000359486.3	-	1	2124	c.1988G>A	c.(1987-1989)aGc>aAc	p.S663N	TCF20_ENST00000335626.4_Missense_Mutation_p.S663N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTTTCCTTTGCTCCCTCCTCC	0.542													False	0	True	22:42609324	0	T	42609324	C	T	42609324	3	4	88	1	0	0	0	0	1	0	0	0	15772	797	28	2	3932	2	TCF20	22	42609324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1885	42609324	8695242	20244	27956											
TCF20	6942	broad.mit.edu	37	chr22	42609754	42609754	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgctggagcagcctccatCtaatgactctgccatagggg	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609754C>A	ENST00000359486.3	-	1	1694	c.1558G>T	c.(1558-1560)Gat>Tat	p.D520Y	TCF20_ENST00000335626.4_Missense_Mutation_p.D520Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CAGCCTCCATCTAATGACTCT	0.537													False	0	False	22:42609754	0	A	42609754	C	A	42609754	3	1	88	1	0	0	0	0	1	0	0	0	15772	913	32	3	4362	3	TCF20	22	42609754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	430	42609754	8694812	20245	27957											
TCF20	6942	broad.mit.edu	37	chr22	42609955	42609955	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagcactcaaactactcaAcccaggatctgtcagtcgct	7	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609955A>G	ENST00000359486.3	-	1	1493	c.1357T>C	c.(1357-1359)Ttg>Ctg	p.L453L	TCF20_ENST00000335626.4_Silent_p.L453L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AAACTACTCAACCCAGGATCT	0.488													False	0	True	22:42609955	0	G	42609955	A	G	42609955	2	3	88	1	0	0	0	0	0	0	0	1	15772	40	2	4		4	TCF20	22	42609955	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	201	42609955	8694611	20246	27958											
TCF20	6942	broad.mit.edu	37	chr22	42611246	42611246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctagccgggatgagccGtgtacctcctgtgggtagct	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42611246G>A	ENST00000359486.3	-	1	202	c.66C>T	c.(64-66)caC>caT	p.H22H	TCF20_ENST00000335626.4_Silent_p.H22H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGGATGAGCCGTGTACCTCCT	0.567													False	0	False	22:42611246	0	A	42611246	G	A	42611246	2	1	88	1	0	0	0	0	0	0	0	1	15772	1136	40	1		1	TCF20	22	42611246	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1291	42611246	8693320	20247	27959											
SERHL2	253190	broad.mit.edu	37	chr22	42967184	42967184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcattccatcaggaagCtgcaggcccatgtcctgttg	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42967184C>T	ENST00000327678.5	+	10	808	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	SERHL2_ENST00000340239.4_Silent_p.S197S|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000335879.5_Silent_p.L172L|SERHL2_ENST00000407614.4_Silent_p.L56L	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	236						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CATCAGGAAGCTGCAGGCCCA	0.567													False	0	False	22:42967184	0	T	42967184	C	T	42967184	2	4	88	1	0	0	0	0	0	0	0	1	14159	796	28	2		2	SERHL2	22	42967184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	355938	42967184	8337382	20248	27960											
POLDIP3	84271	broad.mit.edu	37	chr22	42981253	42981253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggggagaggacaagaggCctgagacctgctccccaccc	13	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42981253C>T	ENST00000339677.6	-	3	519	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	POLDIP3_ENST00000252115.5_3'UTR|POLDIP3_ENST00000348657.2_3'UTR			Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	0					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGACAAGAGGCCTGAGACCTG	0.627													False	0	False	22:42981253	0	T	42981253	C	T	42981253	3	4	88	1	0	0	0	0	1	0	0	0	12264	754	26	2		2	POLDIP3	22	42981253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14069	42981253	8323313	20249	27961											
POLDIP3	84271	broad.mit.edu	37	chr22	42988051	42988051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctaccccaggatggaccaGtcgagctcgcttgagggccc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42988051G>A	ENST00000252115.5	-	7	1035	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000451060.2_Silent_p.L155L|POLDIP3_ENST00000348657.2_Silent_p.L282L	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	311	RRM.				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGATGGACCAGTCGAGCTCGC	0.542													False	0	False	22:42988051	0	A	42988051	G	A	42988051	2	1	88	1	0	0	0	0	0	0	0	1	12264	1020	36	2		2	POLDIP3	22	42988051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6798	42988051	8316515	20250	27962											
CYB5R3	1727	broad.mit.edu	37	chr22	43032837	43032837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaaccagactgggaagaGcaccatatggcccaactgaa	11	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43032837G>T	ENST00000361740.4	-	2	135	c.136C>A	c.(136-138)Ctc>Atc	p.L46I	CYB5R3_ENST00000407332.1_5'UTR|CYB5R3_ENST00000352397.5_Missense_Mutation_p.L13I|CYB5R3_ENST00000402438.1_5'UTR|CYB5R3_ENST00000407623.3_5'UTR|CYB5R3_ENST00000396303.3_5'UTR	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	13	FAD-binding FR-type.				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	ACTGGGAAGAGCACCATATGG	0.607													False	0	False	22:43032837	0	T	43032837	G	T	43032837	3	4	88	1	0	0	0	0	1	0	0	0	4153	971	34	3	900	3	CYB5R3	22	43032837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44786	43032837	8271729	20251	27963											
A4GALT	53947	broad.mit.edu	37	chr22	43089256	43089256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtggtccacgaagtcccgCatgcacagcgccatgaactc	10	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43089256C>T	ENST00000401850.1	-	2	1191	c.702G>A	c.(700-702)atG>atA	p.M234I	A4GALT_ENST00000249005.2_Missense_Mutation_p.M234I|A4GALT_ENST00000381278.3_Missense_Mutation_p.M234I			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	234					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						CGAAGTCCCGCATGCACAGCG	0.652													False	0	False	22:43089256	0	T	43089256	C	T	43089256	3	4	88	1	0	0	0	0	1	0	0	0	6	710	25	2	363	2	A4GALT	22	43089256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56419	43089256	8215310	20252	27964											
TTLL1	25809	broad.mit.edu	37	chr22	43442432	43442432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacagaatctcgtaattgcCgaggacttccttaggtggcg	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43442432C>T	ENST00000331018.7	-	9	1279	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000266254.7_Missense_Mutation_p.G376S			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	376	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TCGTAATTGCCGAGGACTTCC	0.498													False	0	False	22:43442432	0	T	43442432	C	T	43442432	3	4	88	1	0	0	0	0	1	0	0	0	16806	652	23	1	153	1	TTLL1	22	43442432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353176	43442432	7862134	20253	27965											
TTLL1	25809	broad.mit.edu	37	chr22	43442565	43442565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgctggacgtgagagaCggggacgcattcacctgtga	16	9	1	3	rs143499869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43442565C>T	ENST00000331018.7	-	9	1146	c.906G>A	c.(904-906)ccG>ccA	p.P302P	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000266254.7_Silent_p.P331P			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	331	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACGTGAGAGACGGGGACGCAT	0.512													False	0	True	22:43442565	0	T	43442565	C	T	43442565	2	4	88	1	0	0	0	0	0	0	0	1	16806	523	19	1		1	TTLL1	22	43442565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133	43442565	7862001	20254	27966											
TTLL1	25809	broad.mit.edu	37	chr22	43459836	43459836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccgtgtttctggatggCgacgttggtgagatgaacga	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43459836C>T	ENST00000331018.7	-	7	970	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	TTLL1_ENST00000266254.7_Missense_Mutation_p.A244T			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	244	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TTCTGGATGGCGACGTTGGTG	0.532													False	0	False	22:43459836	0	T	43459836	C	T	43459836	3	4	88	1	0	0	0	0	1	0	0	0	16806	768	27	1	561	1	TTLL1	22	43459836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17271	43459836	7844730	20255	27967											
MCAT	27349	broad.mit.edu	37	chr22	43529075	43529075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggggctcctgagggtccaGgtccacatgttcgagggtct	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43529075G>T	ENST00000290429.6	-	4	1192	c.1147C>A	c.(1147-1149)Ctg>Atg	p.L383M	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)						fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TGAGGGTCCAGGTCCACATGT	0.632													False	0	True	22:43529075	0	T	43529075	G	T	43529075	3	4	88	1	0	0	0	0	1	0	0	0	9439	991	35	3	29	3	MCAT	22	43529075	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69239	43529075	7775491	20256	27968											
SCUBE1	80274	broad.mit.edu	37	chr22	43623456	43623456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctgcccttggtgttgacGcagccctggtcacagctccc	11	15	1	1	rs142424380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43623456G>A	ENST00000360835.4	-	10	1257	c.1131C>T	c.(1129-1131)tgC>tgT	p.C377C		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1		EGF-like 9; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGGTGTTGACGCAGCCCTGGT	0.677													False	0	False	22:43623456	0	A	43623456	G	A	43623456	2	1	88	1	0	0	0	0	0	0	0	1	14025	1079	38	1		1	SCUBE1	22	43623456	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94381	43623456	7681110	20257	27969											
SCUBE1	80274	broad.mit.edu	37	chr22	43634902	43634902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggcagctgcatcgcacGccagtggctgtgtccttgca	14	13	0	0	rs140715405	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43634902G>A	ENST00000360835.4	-	7	912	c.786C>T	c.(784-786)ggC>ggT	p.G262G	Z82214.2_ENST00000419643.1_RNA|SCUBE1_ENST00000290460.7_Silent_p.G292G	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1		EGF-like 5 (Potential).|EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGCATCGCACGCCAGTGGCTG	0.602													False	0	False	22:43634902	0	A	43634902	G	A	43634902	2	1	88	1	0	0	0	0	0	0	0	1	14025	1074	38	1		1	SCUBE1	22	43634902	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11446	43634902	7669664	20258	27970											
SCUBE1	80274	broad.mit.edu	37	chr22	43687117	43687117	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccactgtggcactgacacTcgtagctgcccatggcattg	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687117T>G	ENST00000360835.4	-	4	545	c.419A>C	c.(418-420)gAg>gCg	p.E140A	SCUBE1_ENST00000290460.7_Missense_Mutation_p.E140A	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1		EGF-like 3; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCACTGACACTCGTAGCTGCC	0.547													False	0	False	22:43687117	0	G	43687117	T	G	43687117	3	3	88	1	0	0	0	0	1	0	0	0	14025	1551	54	4	2623	4	SCUBE1	22	43687117	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52215	43687117	7617449	20259	27971											
SCUBE1	80274	broad.mit.edu	37	chr22	43687179	43687179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattattgtcctgacactcGtccacatctgtgagaaaagg	8	11	1	2	rs148070276		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687179G>A	ENST00000360835.4	-	4	483	c.357C>T	c.(355-357)gaC>gaT	p.D119D	SCUBE1_ENST00000290460.7_Silent_p.D119D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1		EGF-like 3; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCTGACACTCGTCCACATCTG	0.542													False	0	False	22:43687179	0	A	43687179	G	A	43687179	2	1	88	1	0	0	0	0	0	0	0	1	14025	1136	40	1		1	SCUBE1	22	43687179	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	43687179	7617387	20260	27972											
EFCAB6	64800	broad.mit.edu	37	chr22	43936061	43936061	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctcctgagtgggcaatgaGagggcagatctggtgccttc	15	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43936061G>A	ENST00000262726.7	-	28	4078	c.3825C>T	c.(3823-3825)ctC>ctT	p.L1275L	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.L1123L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGGGCAATGAGAGGGCAGATC	0.622													False	0	False	22:43936061	0	A	43936061	G	A	43936061	2	1	88	1	0	0	0	0	0	0	0	1	4969	929	33	2		2	EFCAB6	22	43936061	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	248882	43936061	7368505	20261	27973											
EFCAB6	64800	broad.mit.edu	37	chr22	43950755	43950755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgtttcttacctgttcGtccgtcaggatttggacgcg	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43950755G>A	ENST00000262726.7	-	27	3895	c.3642C>T	c.(3640-3642)gaC>gaT	p.D1214D	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.D1062D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1214	EF-hand 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTACCTGTTCGTCCGTCAGGA	0.512													False	0	True	22:43950755	0	A	43950755	G	A	43950755	2	1	88	1	0	0	0	0	0	0	0	1	4969	1136	40	1		1	EFCAB6	22	43950755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14694	43950755	7353811	20262	27974											
EFCAB6	64800	broad.mit.edu	37	chr22	44028018	44028018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcctcctagggaaaagCttcaggcattcttctgcggt	10	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44028018C>A	ENST00000262726.7	-	19	2452	c.2199G>T	c.(2197-2199)aaG>aaT	p.K733N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.K581N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TAGGGAAAAGCTTCAGGCATT	0.562													False	0	False	22:44028018	0	A	44028018	C	A	44028018	3	1	88	1	0	0	0	0	1	0	0	0	4969	796	28	3	2362	3	EFCAB6	22	44028018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77263	44028018	7276548	20263	27975											
EFCAB6	64800	broad.mit.edu	37	chr22	44074024	44074024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatcgaaattcttctcttGttatcggtccatcgggtttc	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44074024G>A	ENST00000262726.7	-	13	1524	c.1271C>T	c.(1270-1272)aCa>aTa	p.T424I	EFCAB6_ENST00000396231.2_Missense_Mutation_p.T272I|EFCAB6_ENST00000358439.4_3'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	424	EF-hand 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCTTCTCTTGTTATCGGTCC	0.343													False	0	False	22:44074024	0	A	44074024	G	A	44074024	3	1	88	1	0	0	0	0	1	0	0	0	4969	1377	48	2	3314	2	EFCAB6	22	44074024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46006	44074024	7230542	20264	27976											
EFCAB6	64800	broad.mit.edu	37	chr22	44131843	44131843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatcaatgagctcaaaggCtttcataacagtcttaatgt	6	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44131843C>T	ENST00000262726.7	-	7	791	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	EFCAB6_ENST00000356087.4_Missense_Mutation_p.A74T|EFCAB6_ENST00000396231.2_Missense_Mutation_p.A28T|EFCAB6_ENST00000358439.4_Missense_Mutation_p.A74T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	180	EF-hand 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTCAAAGGCTTTCATAACA	0.368													False	0	True	22:44131843	0	T	44131843	C	T	44131843	3	4	88	1	0	0	0	0	1	0	0	0	4969	797	28	2	4071	2	EFCAB6	22	44131843	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57819	44131843	7172723	20265	27977											
SULT4A1	25830	broad.mit.edu	37	chr22	44234874	44234874	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgagccatatagatgacCtgtgggtgacaggagcagga	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44234874C>A	ENST00000330884.4	-	4	502		c.e4-1		SULT4A1_ENST00000249130.5_Splice_Site|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TATAGATGACCTGTGGGTGAC	0.582													False	0	False	22:44234874	0	A	44234874	C	A	44234874	5	1	88	1	0	0	0	0	0	0	1	0	15465	695	24	3	489	3	SULT4A1	22	44234874	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103031	44234874	7069692	20266	27978											
SAMM50	25813	broad.mit.edu	37	chr22	44364674	44364674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggaatttttagacaagtgGatgttttgattgacacatgt	10	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44364674G>A	ENST00000350028.4	+	4	455	c.298G>A	c.(298-300)Gat>Aat	p.D100N	SAMM50_ENST00000396202.3_De_novo_Start_InFrame|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	100					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TAGACAAGTGGATGTTTTGAT	0.368													False	0	False	22:44364674	0	A	44364674	G	A	44364674	3	1	88	1	0	0	0	0	1	0	0	0	13908	1174	41	2	312	2	SAMM50	22	44364674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129800	44364674	6939892	20267	27979											
SAMM50	25813	broad.mit.edu	37	chr22	44368124	44368124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttatttaggtgatgacGcacttccaaatgggttagac	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44368124G>A	ENST00000350028.4	+	5	488	c.331G>A	c.(331-333)Gca>Aca	p.A111T	SAMM50_ENST00000396202.3_Intron|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	111					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	p.A111S(1)		endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGGTGATGACGCACTTCCAAA	0.363													False	0	False	22:44368124	0	A	44368124	G	A	44368124	3	1	88	1	0	0	0	0	1	0	0	0	13908	1087	38	1	349	1	SAMM50	22	44368124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3450	44368124	6936442	20268	27980											
PARVB	29780	broad.mit.edu	37	chr22	44559756	44559756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccacaatgtgtccttcGcctttgagctgatgctggac	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44559756G>A	ENST00000338758.7	+	12	1027	c.964G>A	c.(964-966)Gcc>Acc	p.A322T	PARVB_ENST00000404989.1_Missense_Mutation_p.A285T|PARVB_ENST00000406477.3_Missense_Mutation_p.A355T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta		CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	p.A355T(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGTGTCCTTCGCCTTTGAGCT	0.627													False	0	False	22:44559756	0	A	44559756	G	A	44559756	3	1	88	1	0	0	0	0	1	0	0	0	11537	1087	38	1	1229	1	PARVB	22	44559756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191632	44559756	6744810	20269	27981											
PARVG	64098	broad.mit.edu	37	chr22	44583713	44583713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacattgtggtccgcagcCtggaggaggacatgttcgac	14	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44583713C>T	ENST00000444313.3	+	5	686	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	PARVG_ENST00000415224.1_Silent_p.L68L|PARVG_ENST00000422871.1_Silent_p.L68L	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma		CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GGTCCGCAGCCTGGAGGAGGA	0.602													False	0	False	22:44583713	0	T	44583713	C	T	44583713	2	4	88	1	0	0	0	0	0	0	0	1	11538	680	24	2		2	PARVG	22	44583713	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23957	44583713	6720853	20270	27982											
PARVG	64098	broad.mit.edu	37	chr22	44586501	44586501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaagcgcttccagcccgaCctctccctcccaaccaacgt	6	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44586501C>T	ENST00000444313.3	+	7	943	c.459C>T	c.(457-459)gaC>gaT	p.D153D	PARVG_ENST00000415224.1_Silent_p.D153D|PARVG_ENST00000422871.1_Silent_p.D153D	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma						cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCCAGCCCGACCTCTCCCTCC	0.607													False	0	False	22:44586501	0	T	44586501	C	T	44586501	2	4	88	1	0	0	0	0	0	0	0	1	11538	506	18	2		2	PARVG	22	44586501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2788	44586501	6718065	20271	27983											
PARVG	64098	broad.mit.edu	37	chr22	44602221	44602221	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaacaaggatgccaagaGcacactgagggtgctctatg	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44602221G>T	ENST00000444313.3	+	14	1395	c.911G>T	c.(910-912)aGc>aTc	p.S304I	PARVG_ENST00000415224.1_Missense_Mutation_p.S304I|PARVG_ENST00000422871.1_Missense_Mutation_p.S304I	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma		CH 2.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GATGCCAAGAGCACACTGAGG	0.602													False	0	False	22:44602221	0	T	44602221	G	T	44602221	3	4	88	1	0	0	0	0	1	0	0	0	11538	971	34	3	957	3	PARVG	22	44602221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15720	44602221	6702345	20272	27984											
KIAA1644	85352	broad.mit.edu	37	chr22	44681381	44681381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgtgtgcacggcctgtgGggcttgtggcagcgggcctg	18	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44681381G>A	ENST00000381176.4	-	4	658	c.526C>T	c.(526-528)Cca>Tca	p.P176S		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	176						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ACGGCCTGTGGGGCTTGTGGC	0.687													False	0	True	22:44681381	0	A	44681381	G	A	44681381	3	1	88	1	0	0	0	0	1	0	0	0	8300	1232	43	2	81	2	KIAA1644	22	44681381	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79160	44681381	6623185	20273	27985											
LDOC1L	84247	broad.mit.edu	37	chr22	44893032	44893032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacacaaggaaggccacacgCtcggcctcacccgggaagcg	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44893032C>A	ENST00000341255.3	-	2	914	c.405G>T	c.(403-405)gaG>gaT	p.E135D		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	135										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		AGGCCACACGCTCGGCCTCAC	0.627													False	0	False	22:44893032	0	A	44893032	C	A	44893032	3	1	88	1	0	0	0	0	1	0	0	0	8761	796	28	3	318	3	LDOC1L	22	44893032	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211651	44893032	6411534	20274	27986											
LDOC1L	84247	broad.mit.edu	37	chr22	44893044	44893044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacacgctcggcctcaccCgggaagcgggaggcctggaa	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44893044C>T	ENST00000341255.3	-	2	902	c.393G>A	c.(391-393)ccG>ccA	p.P131P		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	131										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CGGCCTCACCCGGGAAGCGGG	0.632													False	0	True	22:44893044	0	T	44893044	C	T	44893044	2	4	88	1	0	0	0	0	0	0	0	1	8761	639	23	1		1	LDOC1L	22	44893044	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	44893044	6411522	20275	27987											
PRR5	55615	broad.mit.edu	37	chr22	45132743	45132743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaacacgcctctgctgaaCcccgtgcaggagcacgaggc	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45132743C>T	ENST00000403581.1	+	10	1461	c.852C>T	c.(850-852)aaC>aaT	p.N284N	PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000006251.7_Silent_p.N252N|PRR5_ENST00000336985.6_Silent_p.N261N	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CTCTGCTGAACCCCGTGCAGG	0.692													False	0	True	22:45132743	0	T	45132743	C	T	45132743	2	4	88	1	0	0	0	0	0	0	0	1	12676	506	18	2		2	PRR5	22	45132743	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239699	45132743	6171823	20276	27988											
PRR5-ARHGAP8	0	broad.mit.edu	37	chr22	45255624	45255624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaggtgtggagagcagCctgcgtgtcactggctgccg	15	12	1	1	rs144257107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45255624C>T	ENST00000352766.7	+	16	1521	c.1521C>T	c.(1519-1521)agC>agT	p.S507S	ARHGAP8_ENST00000389774.2_Silent_p.S328S|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.S428S|ARHGAP8_ENST00000356099.6_Silent_p.S297S|ARHGAP8_ENST00000389773.5_Silent_p.S419S|ARHGAP8_ENST00000517296.3_Silent_p.S507S|ARHGAP8_ENST00000336963.4_Intron																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						TGGAGAGCAGCCTGCGTGTCA	0.667													False	0	False	22:45255624	0	T	45255624	C	T	45255624	2	4	88	1	0	0	0	0	0	0	0	1	12677	738	26	2		2	PRR5-ARHGAP8	22	45255624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122881	45255624	6048942	20277	27989											
PHF21B	112885	broad.mit.edu	37	chr22	45309858	45309858	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgacctggaagatgccatgGaggggtgaaggggacagtga	18	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45309858G>A	ENST00000313237.5	-	5	825	c.675C>T	c.(673-675)ctC>ctT	p.L225L	PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000404079.2_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	225							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AGATGCCATggaggggtgaag	0.642													False	0	False	22:45309858	0	A	45309858	G	A	45309858	2	1	88	1	0	0	0	0	0	0	0	1	11903	1161	41	2		2	PHF21B	22	45309858	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54234	45309858	5994708	20278	27990											
NUP50	10762	broad.mit.edu	37	chr22	45567527	45567527	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtcttgaagaatagagCcataaagaaagcaaagcgca	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45567527C>A	ENST00000347635.4	+	3	582	c.116C>A	c.(115-117)gCc>gAc	p.A39D	NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000396096.2_Missense_Mutation_p.A11D|NUP50_ENST00000407019.2_Missense_Mutation_p.A11D|NUP50_ENST00000486184.1_3'UTR	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa						carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGAATAGAGCCATAAAGAAA	0.403													False	0	False	22:45567527	0	A	45567527	C	A	45567527	3	1	88	1	0	0	0	0	1	0	0	0	10834	739	26	3	122	3	NUP50	22	45567527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257669	45567527	5737039	20279	27991											
NUP50	10762	broad.mit.edu	37	chr22	45577225	45577225	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagttaccgaagtaaaagaAgaagatgctttttactccaa	8	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45577225A>C	ENST00000347635.4	+	6	1528	c.1062A>C	c.(1060-1062)gaA>gaC	p.E354D	NUP50_ENST00000425733.2_Missense_Mutation_p.E104D|NUP50_ENST00000396096.2_Missense_Mutation_p.E326D|NUP50_ENST00000407019.2_Missense_Mutation_p.E326D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa		RanBD1.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGTAAAAGAAGAAGATGCTT	0.418													False	0	True	22:45577225	0	C	45577225	A	C	45577225	3	2	88	1	0	0	0	0	1	0	0	0	10834	69	3	4	1080	4	NUP50	22	45577225	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9698	45577225	5727341	20280	27992											
SMC1B	27127	broad.mit.edu	37	chr22	45767427	45767427	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cactcaacataatacattgaGactcaatatttagtagttca	4	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45767427G>A	ENST00000357450.4	-	14	2236	c.2237C>T	c.(2236-2238)tCt>tTt	p.S746F	SMC1B_ENST00000404354.3_Missense_Mutation_p.S746F	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	746					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATACATTGAGACTCAATATT	0.289													False	0	False	22:45767427	0	A	45767427	G	A	45767427	3	1	88	1	0	0	0	0	1	0	0	0	14862	942	33	2	1518	2	SMC1B	22	45767427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190202	45767427	5537139	20281	27993											
SMC1B	27127	broad.mit.edu	37	chr22	45804686	45804686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaataggttttccaatatgtGctccatgaatgagttcttga	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45804686G>A	ENST00000357450.4	-	2	202	c.203C>T	c.(202-204)gCa>gTa	p.A68V	SMC1B_ENST00000404354.3_Missense_Mutation_p.A68V	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	68					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCAATATGTGCTCCATGAAT	0.338													False	0	False	22:45804686	0	A	45804686	G	A	45804686	3	1	88	1	0	0	0	0	1	0	0	0	14862	1319	46	2	3600	2	SMC1B	22	45804686	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37259	45804686	5499880	20282	27994											
FBLN1	2192	broad.mit.edu	37	chr22	45946495	45946495	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccgccgctccgcagccaCgtaagtcccttggaccatgc	9	18	0	0	rs151076402	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45946495C>T	ENST00000348697.2	+	14	1844	c.1697C>T	c.(1696-1698)aCg>aTg	p.T566M	FBLN1_ENST00000327858.6_Splice_Site_p.T566M|FBLN1_ENST00000402984.3_Splice_Site_p.T604I|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000442170.2_Splice_Site_p.T566M|FBLN1_ENST00000340923.5_Splice_Site_p.T566I|FBLN1_ENST00000262722.7_Splice_Site_p.T566I			P23142	FBLN1_HUMAN	fibulin 1	566	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCGCAGCCACGTAAGTCCCT	0.612													False	0	False	22:45946495	0	T	45946495	C	T	45946495	5	4	88	1	0	0	0	0	0	0	1	0	5738	550	19	1	1751	1	FBLN1	22	45946495	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141809	45946495	5358071	20283	27995											
ATXN10	25814	broad.mit.edu	37	chr22	46125440	46125440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcaagactgtgctcaaGctggcctctgaggagcctcc	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46125440G>A	ENST00000252934.5	+	7	1129	c.864G>A	c.(862-864)aaG>aaA	p.K288K	ATXN10_ENST00000381061.4_Silent_p.K224K	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	288					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CTGTGCTCAAGCTGGCCTCTG	0.502													False	0	False	22:46125440	0	A	46125440	G	A	46125440	2	1	88	1	0	0	0	0	0	0	0	1	1214	962	34	2		2	ATXN10	22	46125440	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178945	46125440	5179126	20284	27996											
PPARA	5465	broad.mit.edu	37	chr22	46614253	46614253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacagaaacaaatgccagTattgtcgatttcacaagtgc	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46614253T>C	ENST00000396000.2	+	5	728	c.463T>C	c.(463-465)Tat>Cat	p.Y155H	PPARA_ENST00000434345.2_Missense_Mutation_p.Y155H|PPARA_ENST00000407236.1_Missense_Mutation_p.Y155H|PPARA_ENST00000402126.1_Missense_Mutation_p.Y155H|PPARA_ENST00000262735.5_Missense_Mutation_p.Y155H			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	155					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CAAATGCCAGTATTGTCGATT	0.498													False	0	False	22:46614253	0	C	46614253	T	C	46614253	3	2	88	1	0	0	0	0	1	0	0	0	12366	1638	57	4	473	4	PPARA	22	46614253	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	488813	46614253	4690313	20285	27997											
PPARA	5465	broad.mit.edu	37	chr22	46627925	46627925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatacggagtttatgaggcCatattcgccatgctgtcttc	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46627925C>T	ENST00000396000.2	+	7	1213	c.948C>T	c.(946-948)gcC>gcT	p.A316A	PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000407236.1_Silent_p.A316A|PPARA_ENST00000402126.1_Silent_p.A316A|PPARA_ENST00000262735.5_Silent_p.A316A			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	316	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TTTATGAGGCCATATTCGCCA	0.473													False	0	False	22:46627925	0	T	46627925	C	T	46627925	2	4	88	1	0	0	0	0	0	0	0	1	12366	581	21	2		2	PPARA	22	46627925	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13672	46627925	4676641	20286	27998											
PKDREJ	10343	broad.mit.edu	37	chr22	46653832	46653832	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactagattttgctctcacTtgcctcatcaatggaaggcc	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46653832T>G	ENST00000253255.5	-	1	5387	c.5388A>C	c.(5386-5388)caA>caC	p.Q1796H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1796					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTGCTCTCACTTGCCTCATCA	0.418													False	0	False	22:46653832	0	G	46653832	T	G	46653832	3	3	88	1	0	0	0	0	1	0	0	0	12039	1606	56	4	1377	4	PKDREJ	22	46653832	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25907	46653832	4650734	20287	27999											
PKDREJ	10343	broad.mit.edu	37	chr22	46655499	46655499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggtcccagacccccaacGacttcctgtaaaaatagtca	6	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655499G>A	ENST00000253255.5	-	1	3720	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1241	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACCCCCAACGACTTCCTGTA	0.448													False	0	False	22:46655499	0	A	46655499	G	A	46655499	3	1	88	1	0	0	0	0	1	0	0	0	12039	1058	37	1	3044	1	PKDREJ	22	46655499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1667	46655499	4649067	20288	28000											
PKDREJ	10343	broad.mit.edu	37	chr22	46655796	46655796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgattgtgcccagctgccGcctagcccttactacattct	7	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655796G>A	ENST00000253255.5	-	1	3423	c.3424C>T	c.(3424-3426)Cgg>Tgg	p.R1142W		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1142					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCCAGCTGCCGCCTAGCCCTT	0.507													False	0	False	22:46655796	0	A	46655796	G	A	46655796	3	1	88	1	0	0	0	0	1	0	0	0	12039	1086	38	1	3341	1	PKDREJ	22	46655796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297	46655796	4648770	20289	28001											
PKDREJ	10343	broad.mit.edu	37	chr22	46655931	46655931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgctgaaaatagaaaTtctcactagcttgtcattga	8	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655931T>C	ENST00000253255.5	-	1	3288	c.3289A>G	c.(3289-3291)Att>Gtt	p.I1097V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1097					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAATAGAAATTCTCACTAGC	0.473													False	0	True	22:46655931	0	C	46655931	T	C	46655931	3	2	88	1	0	0	0	0	1	0	0	0	12039	1493	52	4	3476	4	PKDREJ	22	46655931	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135	46655931	4648635	20290	28002											
PKDREJ	10343	broad.mit.edu	37	chr22	46655993	46655993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagaactatggatacaGtacagtggggagagtggctg	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655993G>A	ENST00000253255.5	-	1	3226	c.3227C>T	c.(3226-3228)aCt>aTt	p.T1076I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1076					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TATGGATACAGTACAGTGGGG	0.512													False	0	True	22:46655993	0	A	46655993	G	A	46655993	3	1	88	1	0	0	0	0	1	0	0	0	12039	1029	36	2	3538	2	PKDREJ	22	46655993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	46655993	4648573	20291	28003											
PKDREJ	10343	broad.mit.edu	37	chr22	46656713	46656713	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagtattgtgtctgatagaGattctattacatagaaagga	9	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46656713G>T	ENST00000253255.5	-	1	2506	c.2507C>A	c.(2506-2508)tCt>tAt	p.S836Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	836	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTCTGATAGAGATTCTATTAC	0.353													False	0	False	22:46656713	0	T	46656713	G	T	46656713	3	4	88	1	0	0	0	0	1	0	0	0	12039	942	33	3	4258	3	PKDREJ	22	46656713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	720	46656713	4647853	20292	28004											
PKDREJ	10343	broad.mit.edu	37	chr22	46657717	46657717	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccaatcaaatagcatctcAccacctgaagaagacaaaat	4	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46657717A>G	ENST00000253255.5	-	1	1502	c.1503T>C	c.(1501-1503)ggT>ggC	p.G501G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	501	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATAGCATCTCACCACCTGAAG	0.373													False	0	False	22:46657717	0	G	46657717	A	G	46657717	2	3	88	1	0	0	0	0	0	0	0	1	12039	146	6	4		4	PKDREJ	22	46657717	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1004	46657717	4646849	20293	28005											
TTC38	55020	broad.mit.edu	37	chr22	46685356	46685356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtggggctgcccctgtgCcaggccctggtggaggctga	18	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46685356C>T	ENST00000381031.3	+	12	1216	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	TTC38_ENST00000445282.2_Silent_p.C322C	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	380							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						TGCCCCTGTGCCAGGCCCTGG	0.687													False	0	False	22:46685356	0	T	46685356	C	T	46685356	2	4	88	1	0	0	0	0	0	0	0	1	16790	747	26	2		2	TTC38	22	46685356	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27639	46685356	4619210	20294	28006											
GTSE1	51512	broad.mit.edu	37	chr22	46704391	46704391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggaggtgtacaaagaaGctcacttactggctttacac	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46704391G>T	ENST00000454366.1	+	4	525	c.313G>T	c.(313-315)Gct>Tct	p.A105S		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	86					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GTACAAAGAAGCTCACTTACT	0.567													False	0	False	22:46704391	0	T	46704391	G	T	46704391	3	4	88	1	0	0	0	0	1	0	0	0	6932	971	34	3	323	3	GTSE1	22	46704391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19035	46704391	4600175	20295	28007											
GTSE1	51512	broad.mit.edu	37	chr22	46712143	46712143	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcatcccccacccaaccccaGactccggaaggtggcggcca	10	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46712143G>T	ENST00000454366.1	+	7	1478	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	403					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCCAACCCCAGACTCCGGAAG	0.597													False	0	False	22:46712143	0	T	46712143	G	T	46712143	3	4	88	1	0	0	0	0	1	0	0	0	6932	933	33	3	1288	3	GTSE1	22	46712143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7752	46712143	4592423	20296	28008											
CELSR1	9620	broad.mit.edu	37	chr22	46787161	46787161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgccggcctcaaatgCtttgggacagccattgtaga	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46787161C>T	ENST00000262738.3	-	16	6171	c.6172G>A	c.(6172-6174)Gca>Aca	p.A2058T		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2058					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCTCAAATGCTTTGGGACAG	0.607											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	22:46787161	0	T	46787161	C	T	46787161	3	4	88	1	0	0	0	0	1	0	0	0	3244	797	28	2	2952	2	CELSR1	22	46787161	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75018	46787161	4517405	20297	28009											
CELSR1	9620	broad.mit.edu	37	chr22	46859644	46859644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcaggtgtagccgccctcGcggctgcggcagcggccgtt	16	15	0	0	rs150510873		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46859644G>A	ENST00000262738.3	-	2	4142	c.4143C>T	c.(4141-4143)cgC>cgT	p.R1381R	CELSR1_ENST00000395964.1_Silent_p.R1381R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1381	EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCCGCCCTCGCGGCTGCGGC	0.687													False	0	False	22:46859644	0	A	46859644	G	A	46859644	2	1	88	1	0	0	0	0	0	0	0	1	3244	1074	38	1		1	CELSR1	22	46859644	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72483	46859644	4444922	20298	28010											
CELSR1	9620	broad.mit.edu	37	chr22	46930291	46930291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaaggtgtacagcagaCgcccattgggacctgagtcc	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46930291C>T	ENST00000262738.3	-	1	2776	c.2777G>A	c.(2776-2778)cGt>cAt	p.R926H	CELSR1_ENST00000395964.1_Missense_Mutation_p.R926H	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	926	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTACAGCAGACGCCCATTGGG	0.632													False	0	False	22:46930291	0	T	46930291	C	T	46930291	3	4	88	1	0	0	0	0	1	0	0	0	3244	536	19	1	6407	1	CELSR1	22	46930291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70647	46930291	4374275	20299	28011											
CELSR1	9620	broad.mit.edu	37	chr22	46931735	46931735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctccacctcgatgtacaCggtggccgtggcactgagcg	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46931735C>T	ENST00000262738.3	-	1	1332	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	CELSR1_ENST00000395964.1_Missense_Mutation_p.V445M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	445	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGATGTACACGGTGGCCGTG	0.672													False	0	False	22:46931735	0	T	46931735	C	T	46931735	3	4	88	1	0	0	0	0	1	0	0	0	3244	536	19	1	7851	1	CELSR1	22	46931735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1444	46931735	4372831	20300	28012											
CERK	64781	broad.mit.edu	37	chr22	47116880	47116880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtctgtttcctcaacggCgatgatctcagatacaggca	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47116880C>T	ENST00000216264.8	-	2	287	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	59	Required for binding to sulfatide and phosphoinositides.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCTCAACGGCGATGATCTCA	0.443													False	0	False	22:47116880	0	T	47116880	C	T	47116880	3	4	88	1	0	0	0	0	1	0	0	0	3290	768	27	1	1486	1	CERK	22	47116880	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185145	47116880	4187686	20301	28013											
TBC1D22A	25771	broad.mit.edu	37	chr22	47193447	47193447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactctcagcagctcagcGctgagcgaaagagaggcctc	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47193447G>A	ENST00000337137.4	+	4	733	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000380995.1_Silent_p.A142A|TBC1D22A_ENST00000406733.1_Silent_p.A142A|TBC1D22A_ENST00000407381.3_Intron	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	189						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GCAGCTCAGCGCTGAGCGAAA	0.647											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	22:47193447	0	A	47193447	G	A	47193447	2	1	88	1	0	0	0	0	0	0	0	1	15693	1074	38	1		1	TBC1D22A	22	47193447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76567	47193447	4111119	20302	28014											
TBC1D22A	25771	broad.mit.edu	37	chr22	47393552	47393552	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caactacacctttgcccaacCtgggattcaaatgaaagtga	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47393552C>A	ENST00000337137.4	+	10	1314	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	TBC1D22A_ENST00000355704.3_Missense_Mutation_p.P305H|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.P336H|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.P324H	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	383	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTTGCCCAACCTGGGATTCAA	0.453													False	0	False	22:47393552	0	A	47393552	C	A	47393552	3	1	88	1	0	0	0	0	1	0	0	0	15693	681	24	3	1186	3	TBC1D22A	22	47393552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200105	47393552	3911014	20303	28015											
TBC1D22A	25771	broad.mit.edu	37	chr22	47569242	47569242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcaagtttgcttttgcCgacgcccccaatcactacaa	6	16	2	0	rs144230848	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47569242C>T	ENST00000337137.4	+	13	1693	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	TBC1D22A_ENST00000355704.3_Silent_p.A431A|TBC1D22A_ENST00000406733.1_Silent_p.A462A|TBC1D22A_ENST00000407381.3_Silent_p.A450A	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	509						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTGCTTTTGCCGACGCCCCCA	0.647													False	0	False	22:47569242	0	T	47569242	C	T	47569242	2	4	88	1	0	0	0	0	0	0	0	1	15693	639	23	1		1	TBC1D22A	22	47569242	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175690	47569242	3735324	20304	28016											
FAM19A5	25817	broad.mit.edu	37	chr22	49042475	49042475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagccagcctcggaggaCgatcgcccggcagaccgccc	13	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:49042475C>T	ENST00000358295.5	+	2	333	c.158C>T	c.(157-159)aCg>aTg	p.T53M	FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.T60M	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	60						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CCTCGGAGGACGATCGCCCGG	0.692													False	0	False	22:49042475	0	T	49042475	C	T	49042475	3	4	88	1	0	0	0	0	1	0	0	0	5571	536	19	1	280	1	FAM19A5	22	49042475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1473233	49042475	2262091	20305	28017											
BRD1	23774	broad.mit.edu	37	chr22	50181041	50181041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccgcggcatttacctgCgtccaggcgctttcctgggg	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50181041C>T	ENST00000216267.8	-	7	2947	c.2461G>A	c.(2461-2463)Gca>Aca	p.A821T	BRD1_ENST00000404034.1_Missense_Mutation_p.A821T|BRD1_ENST00000542442.1_Missense_Mutation_p.A509T|BRD1_ENST00000342989.5_Missense_Mutation_p.A547T|BRD1_ENST00000404760.1_Missense_Mutation_p.A952T|BRD1_ENST00000457780.2_Silent_p.T924T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	821					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CATTTACCTGCGTCCAGGCGC	0.657													False	0	False	22:50181041	0	T	50181041	C	T	50181041	3	4	88	1	0	0	0	0	1	0	0	0	1508	768	27	1	739	1	BRD1	22	50181041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1138566	50181041	1123525	20306	28018											
BRD1	23774	broad.mit.edu	37	chr22	50187865	50187865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcatagcgcaggtgaggtCgagcatgtccagcagctctc	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50187865C>T	ENST00000216267.8	-	6	2662	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	BRD1_ENST00000404034.1_Missense_Mutation_p.D726N|BRD1_ENST00000542442.1_Missense_Mutation_p.D414N|BRD1_ENST00000342989.5_Missense_Mutation_p.D321N|BRD1_ENST00000404760.1_Missense_Mutation_p.D726N|BRD1_ENST00000457780.2_Missense_Mutation_p.D726N	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	726					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGGTGAGGTCGAGCATGTCC	0.592													False	0	False	22:50187865	0	T	50187865	C	T	50187865	3	4	88	1	0	0	0	0	1	0	0	0	1508	884	31	1	1028	1	BRD1	22	50187865	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6824	50187865	1116701	20307	28019											
BRD1	23774	broad.mit.edu	37	chr22	50191584	50191584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaacacctccctgatcgCgcagcctcaccgcggctcta	8	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50191584C>T	ENST00000216267.8	-	5	2453	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	BRD1_ENST00000404034.1_Missense_Mutation_p.R656H|BRD1_ENST00000542442.1_Missense_Mutation_p.R344H|BRD1_ENST00000342989.5_Missense_Mutation_p.R251H|BRD1_ENST00000404760.1_Missense_Mutation_p.R656H|BRD1_ENST00000457780.2_Missense_Mutation_p.R656H	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	656					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCCTGATCGCGCAGCCTCAC	0.577													False	0	False	22:50191584	0	T	50191584	C	T	50191584	3	4	88	1	0	0	0	0	1	0	0	0	1508	768	27	1	1241	1	BRD1	22	50191584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3719	50191584	1112982	20308	28020											
ZBED4	9889	broad.mit.edu	37	chr22	50277250	50277250	+	Translation_Start_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atctacattcgggggcacaaAtgagcacttggatcagtgtt	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50277250A>T	ENST00000216268.5	+	0	417					NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGGCACAAATGAGCACTTG	0.373													False	0	True	22:50277250	0	T	50277250	A	T	50277250	1	4	88	1	0	0	0	0	0	0	0	0	17603	116	4	5		5	ZBED4	22	50277250	Translation_Start_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	85666	50277250	1027316	20309	28021											
ZBED4	9889	broad.mit.edu	37	chr22	50278993	50278993	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttaatagcaaaaagacctcGaagctgtggaatcatttttc	8	7	1	1	rs138599627		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50278993G>A	ENST00000216268.5	+	2	2160	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AAAAGACCTCGAAGCTGTGGA	0.463													False	0	False	22:50278993	0	A	50278993	G	A	50278993	2	1	88	1	0	0	0	0	0	0	0	1	17603	1045	37	1		1	ZBED4	22	50278993	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1743	50278993	1025573	20310	28022											
ZBED4	9889	broad.mit.edu	37	chr22	50280636	50280636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactggaacctgaagaaggCgtcctggccggggctgtccg	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50280636C>T	ENST00000216268.5	+	2	3803	c.3326C>T	c.(3325-3327)gCg>gTg	p.A1109V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTGAAGAAGGCGTCCTGGCCG	0.582													False	0	False	22:50280636	0	T	50280636	C	T	50280636	3	4	88	1	0	0	0	0	1	0	0	0	17603	768	27	1	3328	1	ZBED4	22	50280636	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1643	50280636	1023930	20311	28023											
ALG12	79087	broad.mit.edu	37	chr22	50303569	50303569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatccctgccgggacggCgtggcgaagggctctgacta	17	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50303569C>T	ENST00000330817.6	-	5	910	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGGGACGGCGTGGCGAAGG	0.522													False	0	False	22:50303569	0	T	50303569	C	T	50303569	3	4	88	1	0	0	0	0	1	0	0	0	514	768	27	1	853	1	ALG12	22	50303569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22933	50303569	1000997	20312	28024											
ALG12	79087	broad.mit.edu	37	chr22	50307102	50307102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccgcggggctggagaacaCtgcgatcaccactggcccga	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50307102C>A	ENST00000330817.6	-	3	499	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGAGAACACTGCGATCACC	0.572													False	0	False	22:50307102	0	A	50307102	C	A	50307102	3	1	88	1	0	0	0	0	1	0	0	0	514	565	20	3	1272	3	ALG12	22	50307102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3533	50307102	997464	20313	28025											
PIM3	415116	broad.mit.edu	37	chr22	50356512	50356512	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccggaggagggtctctccAggtgcgtggtggctcgaggc	18	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50356512A>G	ENST00000360612.4	+	5	1227	c.792A>G	c.(790-792)ccA>ccG	p.P264P		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	264	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GGGTCTCTCCAGGTGCGTGGT	0.677													False	0	False	22:50356512	0	G	50356512	A	G	50356512	5	3	88	1	0	0	0	0	0	0	1	0	11998	202	7	4	810	4	PIM3	22	50356512	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49410	50356512	948054	20314	28026											
IL17REL	400935	broad.mit.edu	37	chr22	50439203	50439203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgccccccctgctgccGgtgggaggccctggccaccc	13	20	0	0	rs143091006	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50439203G>A	ENST00000389983.2	-	5	463	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	IL17REL_ENST00000341280.5_Missense_Mutation_p.R67W	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	67										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTGCTGCCGGTGGGAGGCC	0.706													False	0	False	22:50439203	0	A	50439203	G	A	50439203	3	1	88	1	0	0	0	0	1	0	0	0	7694	1115	39	1	851	1	IL17REL	22	50439203	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82691	50439203	865363	20315	28027											
IL17REL	400935	broad.mit.edu	37	chr22	50439631	50439631	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggacatggacacggggcGtggccggcagaagctgttaa	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50439631G>A	ENST00000389983.2	-	0	253				IL17REL_ENST00000341280.5_De_novo_Start_OutOfFrame	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like											endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GACACGGGGCGTGGCCGGCAG	0.627													False	0	False	22:50439631	0	A	50439631	G	A	50439631	1	1	88	1	0	0	0	0	0	0	0	0	7694	1160	40	1		1	IL17REL	22	50439631	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	428	50439631	864935	20316	28028											
TTLL8	164714	broad.mit.edu	37	chr22	50454928	50454928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatcccacgtggtgcccGtggtctggcaggcggccacg	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50454928G>A	ENST00000266182.6	-	13	2266	c.2267C>T	c.(2266-2268)aCg>aTg	p.T756M	TTLL8_ENST00000440475.1_Missense_Mutation_p.T736M					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CGTGGTGCCCGTGGTCTGGCA	0.672													False	0	True	22:50454928	0	A	50454928	G	A	50454928	3	1	88	1	0	0	0	0	1	0	0	0	16817	1145	40	1	244	1	TTLL8	22	50454928	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15297	50454928	849638	20317	28029											
TTLL8	164714	broad.mit.edu	37	chr22	50471771	50471771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcacagatgagcagcggCgtctcgatgtacttctggac	13	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50471771C>T	ENST00000266182.6	-	10	1142	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	TTLL8_ENST00000440475.1_Silent_p.T361T					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TGAGCAGCGGCGTCTCGATGT	0.557													False	0	False	22:50471771	0	T	50471771	C	T	50471771	2	4	88	1	0	0	0	0	0	0	0	1	16817	755	27	1		1	TTLL8	22	50471771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16843	50471771	832795	20318	28030											
TTLL8	164714	broad.mit.edu	37	chr22	50479664	50479664	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aatgacatcataaccttctgGattttgaagatgcacaagac	7	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50479664G>T	ENST00000266182.6	-	8	872	c.873C>A	c.(871-873)atC>atA	p.I291I	TTLL8_ENST00000440475.1_Intron					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TAACCTTCTGGATTTTGAAGA	0.552													False	0	False	22:50479664	0	T	50479664	G	T	50479664	2	4	88	1	0	0	0	0	0	0	0	1	16817	1164	41	3		3	TTLL8	22	50479664	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7893	50479664	824902	20319	28031											
TTLL8	164714	broad.mit.edu	37	chr22	50480200	50480200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtccacaagctgccccGggaggcccctgagctttgcc	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50480200G>A	ENST00000266182.6	-	7	679	c.680C>T	c.(679-681)cCg>cTg	p.P227L	TTLL8_ENST00000440475.1_Missense_Mutation_p.P227L					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		AAGCTGCCCCGGGAGGCCCCT	0.632													False	0	True	22:50480200	0	A	50480200	G	A	50480200	3	1	88	1	0	0	0	0	1	0	0	0	16817	1116	39	1	1855	1	TTLL8	22	50480200	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	536	50480200	824366	20320	28032											
TTLL8	164714	broad.mit.edu	37	chr22	50493029	50493029	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattctctgagtacctggaAgtctgtttcccatccaggag	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50493029A>C	ENST00000266182.6	-	1	26	c.27T>G	c.(25-27)acT>acG	p.T9T	TTLL8_ENST00000440475.1_Silent_p.T9T					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		agtacctggaagtctgtttcc	0.587													False	0	False	22:50493029	0	C	50493029	A	C	50493029	2	2	88	1	0	0	0	0	0	0	0	1	16817	59	3	4		4	TTLL8	22	50493029	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12829	50493029	811537	20321	28033											
MLC1	23209	broad.mit.edu	37	chr22	50502477	50502477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacctccccagccaggcGctcctgcgggccgttctggg	12	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50502477G>A	ENST00000311597.5	-	11	1651	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	MLC1_ENST00000431262.2_Missense_Mutation_p.R319C|MLC1_ENST00000395876.2_Missense_Mutation_p.R349C|MLC1_ENST00000535444.1_Missense_Mutation_p.R270C|MLC1_ENST00000450140.2_Missense_Mutation_p.R297C|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000538737.1_Missense_Mutation_p.R315C	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	349						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CCAGCCAGGCGCTCCTGCGGG	0.706													False	0	False	22:50502477	0	A	50502477	G	A	50502477	3	1	88	1	0	0	0	0	1	0	0	0	9679	1087	38	1	96	1	MLC1	22	50502477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9448	50502477	802089	20322	28034											
MOV10L1	54456	broad.mit.edu	37	chr22	50552182	50552182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcattttggaaccctaaaGgaaggaagaagtaaaaccat	9	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50552182G>T	ENST00000262794.5	+	6	932	c.849G>T	c.(847-849)aaG>aaT	p.K283N	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.K283N|MOV10L1_ENST00000540615.1_Missense_Mutation_p.K263N|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K283N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	283					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAACCCTAAAGGAAGGAAGAA	0.398													False	0	True	22:50552182	0	T	50552182	G	T	50552182	3	4	88	1	0	0	0	0	1	0	0	0	9786	991	35	3	912	3	MOV10L1	22	50552182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49705	50552182	752384	20323	28035											
MOV10L1	54456	broad.mit.edu	37	chr22	50564678	50564678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtacaatggacatgccatcGaatacatcagctacgtgact	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50564678G>A	ENST00000262794.5	+	12	1878	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E599K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E579K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E599K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	599					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.E599K(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ACATGCCATCGAATACATCAG	0.383													False	0	False	22:50564678	0	A	50564678	G	A	50564678	3	1	88	1	0	0	0	0	1	0	0	0	9786	1059	37	1	1882	1	MOV10L1	22	50564678	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12496	50564678	739888	20324	28036											
PANX2	56666	broad.mit.edu	37	chr22	50615556	50615556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccatcatgtacgtgcccGcgctgggctgggagttcctg	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50615556G>A	ENST00000395842.2	+	2	415	c.415G>A	c.(415-417)Gcg>Acg	p.A139T	PANX2_ENST00000159647.5_Missense_Mutation_p.A139T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	139					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GTACGTGCCCGCGCTGGGCTG	0.687													False	0	True	22:50615556	0	A	50615556	G	A	50615556	3	1	88	1	0	0	0	0	1	0	0	0	11489	1087	38	1	421	1	PANX2	22	50615556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50878	50615556	689010	20325	28037											
TRABD	80305	broad.mit.edu	37	chr22	50635949	50635949	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcaccttcaagagggccatCgcagcgctctccttctggca	10	15	4	1	rs139568052	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50635949C>T	ENST00000303434.4	+	7	722	c.603C>T	c.(601-603)atC>atT	p.I201I	TRABD_ENST00000395827.1_Silent_p.I201I|TRABD_ENST00000395829.1_Silent_p.I201I|TRABD_ENST00000380909.4_Silent_p.I201I	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	201										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		AGAGGGCCATCGCAGCGCTCT	0.657													False	0	False	22:50635949	0	T	50635949	C	T	50635949	2	4	88	1	0	0	0	0	0	0	0	1	16518	874	31	1		1	TRABD	22	50635949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20393	50635949	668617	20326	28038											
SELO	0	broad.mit.edu	37	chr22	50648614	50648614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtcccaccccaggtgaCgcggcgcacggcgcggatgg	15	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50648614C>T	ENST00000380903.2	+	4	1002	c.944C>T	c.(943-945)aCg>aTg	p.T315M	SELO_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN															all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCCCAGGTGACGCGGCGCACG	0.662											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	22:50648614	0	T	50648614	C	T	50648614	3	4	88	1	0	0	0	0	1	0	0	0	14099	536	19	1	958	1	SELO	22	50648614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12665	50648614	655952	20327	28039											
SELO	0	broad.mit.edu	37	chr22	50655270	50655270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagctgcagagcaggaaCcagggccactgggctgactg	16	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50655270C>T	ENST00000380903.2	+	7	1711	c.1653C>T	c.(1651-1653)aaC>aaT	p.N551N	SELO_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN															all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		AGAGCAGGAACCAGGGCCACT	0.682													False	0	False	22:50655270	0	T	50655270	C	T	50655270	2	4	88	1	0	0	0	0	0	0	0	1	14099	506	18	2		2	SELO	22	50655270	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6656	50655270	649296	20328	28040											
TUBGCP6	85378	broad.mit.edu	37	chr22	50664719	50664719	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcagctgccacctacctcGgaagctgaggtactcgtggt	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50664719G>A	ENST00000439308.2	-	8	2182	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	TUBGCP6_ENST00000248846.5_Nonsense_Mutation_p.R564*	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	564					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACCTACCTCGGAAGCTGAGG	0.617													False	0	False	22:50664719	0	A	50664719	G	A	50664719	4	1	88	1	0	0	0	0	0	1	0	0	16854	1124	39	1	3841	1	TUBGCP6	22	50664719	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9449	50664719	639847	20329	28041											
TUBGCP6	85378	broad.mit.edu	37	chr22	50671771	50671771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgaaaacgtggcagacaCgaccccaatcaagacgttca	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50671771C>T	ENST00000439308.2	-	3	1582	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.V364M	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	364					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGCAGACACGACCCCAATC	0.642													False	0	False	22:50671771	0	T	50671771	C	T	50671771	3	4	88	1	0	0	0	0	1	0	0	0	16854	536	19	1	4461	1	TUBGCP6	22	50671771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7052	50671771	632795	20330	28042											
TUBGCP6	85378	broad.mit.edu	37	chr22	50682221	50682221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggacgtccatgtcataaGtgcggctgtgcacaagggcc	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50682221G>A	ENST00000439308.2	-	1	1160	c.668C>T	c.(667-669)aCt>aTt	p.T223I	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T223I	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	223					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CATGTCATAAGTGCGGCTGTG	0.577													False	0	False	22:50682221	0	A	50682221	G	A	50682221	3	1	88	1	0	0	0	0	1	0	0	0	16854	1029	36	2	4891	2	TUBGCP6	22	50682221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10450	50682221	622345	20331	28043											
MAPK12	6300	broad.mit.edu	37	chr22	50695062	50695062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgttcacagccaggttgCcgggcttcaggtcctggggg	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50695062C>T	ENST00000215659.8	-	6	785	c.470G>A	c.(469-471)gGc>gAc	p.G157D	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.G67D	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	157	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCAGGTTGCCGGGCTTCAG	0.652													False	0	False	22:50695062	0	T	50695062	C	T	50695062	3	4	88	1	0	0	0	0	1	0	0	0	9341	739	26	2	661	2	MAPK12	22	50695062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12841	50695062	609504	20332	28044											
MAPK11	5600	broad.mit.edu	37	chr22	50705581	50705581	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcacagtcctcgttcacaGccacgttgctgggcttcagg	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50705581G>T	ENST00000330651.6	-	6	570	c.470C>A	c.(469-471)gCt>gAt	p.A157D	MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Missense_Mutation_p.A49D	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	157	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGTTCACAGCCACGTTGCT	0.706													False	0	False	22:50705581	0	T	50705581	G	T	50705581	3	4	88	1	0	0	0	0	1	0	0	0	9340	971	34	3	652	3	MAPK11	22	50705581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10519	50705581	598985	20333	28045											
PLXNB2	23654	broad.mit.edu	37	chr22	50719911	50719911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcggcccagcacccactcGcgagagccgaacttcacctg	10	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50719911G>A	ENST00000449103.1	-	22	3680	c.3540C>T	c.(3538-3540)cgC>cgT	p.R1180R	PLXNB2_ENST00000359337.4_Silent_p.R1180R			O15031	PLXB2_HUMAN	plexin B2	1180					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCACCCACTCGCGAGAGCCGA	0.687													False	0	False	22:50719911	0	A	50719911	G	A	50719911	2	1	88	1	0	0	0	0	0	0	0	1	12193	1074	38	1		1	PLXNB2	22	50719911	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14330	50719911	584655	20334	28046											
PLXNB2	23654	broad.mit.edu	37	chr22	50728054	50728054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttggcctccatcttggcGtgcaccttgtccagcgggaa	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728054G>A	ENST00000449103.1	-	3	1100	c.960C>T	c.(958-960)caC>caT	p.H320H	PLXNB2_ENST00000359337.4_Silent_p.H320H			O15031	PLXB2_HUMAN	plexin B2	320	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCATCTTGGCGTGCACCTTGT	0.652													False	0	False	22:50728054	0	A	50728054	G	A	50728054	2	1	88	1	0	0	0	0	0	0	0	1	12193	1136	40	1		1	PLXNB2	22	50728054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8143	50728054	576512	20335	28047											
PLXNB2	23654	broad.mit.edu	37	chr22	50728215	50728215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtggatgtcggggtcccGgcactgcaggtccatctcca	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728215G>A	ENST00000449103.1	-	3	939	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R267W			O15031	PLXB2_HUMAN	plexin B2	267	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGGGGTCCCGGCACTGCAGG	0.652													False	0	True	22:50728215	0	A	50728215	G	A	50728215	3	1	88	1	0	0	0	0	1	0	0	0	12193	1115	39	1	4857	1	PLXNB2	22	50728215	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	50728215	576351	20336	28048											
PLXNB2	23654	broad.mit.edu	37	chr22	50728347	50728347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagacgtaggggccgtcctCgaaggccgccacgaactgct	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728347C>T	ENST00000449103.1	-	3	807	c.667G>A	c.(667-669)Gag>Aag	p.E223K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E223K			O15031	PLXB2_HUMAN	plexin B2	223	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCCGTCCTCGAAGGCCGCC	0.622													False	0	False	22:50728347	0	T	50728347	C	T	50728347	3	4	88	1	0	0	0	0	1	0	0	0	12193	893	31	1	4989	1	PLXNB2	22	50728347	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132	50728347	576219	20337	28049											
SBF1	6305	broad.mit.edu	37	chr22	50899987	50899987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatccccgtgaagatgaccCggtacgtggtgaggaagacg	15	10	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50899987C>T	ENST00000380817.3	-	22	2987	c.2804G>A	c.(2803-2805)cGg>cAg	p.R935Q	SBF1_ENST00000348911.6_Missense_Mutation_p.R936Q|SBF1_ENST00000390679.3_Missense_Mutation_p.R935Q	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		GRAM.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGATGACCCGGTACGTGGT	0.682													False	0	True	22:50899987	0	T	50899987	C	T	50899987	3	4	88	1	0	0	0	0	1	0	0	0	13938	652	23	1	2957	1	SBF1	22	50899987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171640	50899987	404579	20338	28050											
SBF1	6305	broad.mit.edu	37	chr22	50903334	50903334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcccgcatccttgccacctCgtgggccaccagctagcggg	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50903334C>T	ENST00000380817.3	-	13	1528	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	SBF1_ENST00000348911.6_Missense_Mutation_p.E450K|SBF1_ENST00000390679.3_Missense_Mutation_p.E449K	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTTGCCACCTCGTGGGCCACC	0.642													False	0	False	22:50903334	0	T	50903334	C	T	50903334	3	4	88	1	0	0	0	0	1	0	0	0	13938	893	31	1	4452	1	SBF1	22	50903334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3347	50903334	401232	20339	28051											
SBF1	6305	broad.mit.edu	37	chr22	50904432	50904432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactctgcagtggctctggCaagggtggaatgtgcacaca	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50904432C>T	ENST00000380817.3	-	9	1152	c.969G>A	c.(967-969)ttG>ttA	p.L323L	SBF1_ENST00000348911.6_Silent_p.L324L|SBF1_ENST00000390679.3_Silent_p.L323L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGCTCTGGCAAGGGTGGAA	0.612													False	0	False	22:50904432	0	T	50904432	C	T	50904432	2	4	88	1	0	0	0	0	0	0	0	1	13938	709	25	2		2	SBF1	22	50904432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1098	50904432	400134	20340	28052											
SBF1	6305	broad.mit.edu	37	chr22	50905844	50905844	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggcacacattcaggccctCcacgtggatggcatagatga	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50905844C>A	ENST00000380817.3	-	5	655	c.472G>T	c.(472-474)Gag>Tag	p.E158*	SBF1_ENST00000348911.6_Nonsense_Mutation_p.E159*|SBF1_ENST00000390679.3_Nonsense_Mutation_p.E158*	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TTCAGGCCCTCCACGTGGATG	0.627													False	0	False	22:50905844	0	A	50905844	C	A	50905844	4	1	88	1	0	0	0	0	0	1	0	0	13938	864	30	3	5357	3	SBF1	22	50905844	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1412	50905844	398722	20341	28053											
ADM2	79924	broad.mit.edu	37	chr22	50921212	50921212	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccagctcctgcgagtgggCtgtgtgctgggcacctgcca	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50921212C>A	ENST00000362068.2	+	2	592	c.77C>A	c.(76-78)gCt>gAt	p.A26D	ADM2_ENST00000395738.2_Silent_p.G109G|ADM2_ENST00000395737.1_Silent_p.G109G			Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	0					positive regulation of angiogenesis	extracellular region	hormone activity			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGAGTGGGCTGTGTGCTGG	0.687													False	0	True	22:50921212	0	A	50921212	C	A	50921212	3	1	88	1	0	0	0	0	1	0	0	0	322	784	28	3	333	3	ADM2	22	50921212	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15368	50921212	383354	20342	28054											
LMF2	91289	broad.mit.edu	37	chr22	50944481	50944481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcgagtagaaagcagCcaagcgcaggcgtcgaatgg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50944481C>T	ENST00000216080.5	-	5	850	c.682G>A	c.(682-684)Gct>Act	p.A228T	LMF2_ENST00000474879.2_Missense_Mutation_p.A253T|LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000380796.3_Missense_Mutation_p.A253T			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	253						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TAGAAAGCAGCCAAGCGCAGG	0.652													False	0	False	22:50944481	0	T	50944481	C	T	50944481	3	4	88	1	0	0	0	0	1	0	0	0	8899	739	26	2	1406	2	LMF2	22	50944481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23269	50944481	360085	20343	28055											
LMF2	91289	broad.mit.edu	37	chr22	50945279	50945279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgcagtgggctcagcaGcagggctcccagggccacta	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50945279G>A	ENST00000216080.5	-	2	373	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	LMF2_ENST00000474879.2_Silent_p.L94L|LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000380796.3_Silent_p.L94L			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	94						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCTCAGCAGCAGGGCTCCC	0.667													False	0	True	22:50945279	0	A	50945279	G	A	50945279	2	1	88	1	0	0	0	0	0	0	0	1	8899	962	34	2		2	LMF2	22	50945279	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	798	50945279	359287	20344	28056											
NCAPH2	29781	broad.mit.edu	37	chr22	50956564	50956564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttttgccagcacagccGtcagggtgaggtcctggcca	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50956564G>A	ENST00000395701.3	+	7	597	c.503G>A	c.(502-504)cGt>cAt	p.R168H	NCAPH2_ENST00000420993.2_Missense_Mutation_p.R168H|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R168H|NCAPH2_ENST00000395698.3_Missense_Mutation_p.R168H			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	168					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CAGCACAGCCGTCAGGGTGAG	0.627													False	0	False	22:50956564	0	A	50956564	G	A	50956564	3	1	88	1	0	0	0	0	1	0	0	0	10278	1145	40	1	529	1	NCAPH2	22	50956564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11285	50956564	348002	20345	28057											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987929	50987929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccctgtggcccacgaggCtgtggcctgccgtggggaca	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50987929C>A	ENST00000395676.2	+	1	1468	c.1334C>A	c.(1333-1335)gCt>gAt	p.A445D		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	445										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCACGAGGCTGTGGCCTGC	0.662													False	0	False	22:50987929	0	A	50987929	C	A	50987929	3	1	88	1	0	0	0	0	1	0	0	0	8411	797	28	3	1336	3	KLHDC7B	22	50987929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31365	50987929	316637	20346	28058											
CPT1B	1375	broad.mit.edu	37	chr22	51009709	51009709	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcataggtcaggcagaActtacccctgtcctgggata	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51009709A>C	ENST00000360719.2	-	15	1890	c.1753T>G	c.(1753-1755)Ttc>Gtc	p.F585V	CPT1B_ENST00000395650.2_Missense_Mutation_p.F585V|CPT1B_ENST00000405237.3_Missense_Mutation_p.F585V|CPT1B_ENST00000440709.1_Missense_Mutation_p.F504V|CPT1B_ENST00000457250.1_Missense_Mutation_p.F551V|CPT1B_ENST00000312108.7_Missense_Mutation_p.F585V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.F380V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	585					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTCAGGCAGAACTTACCCCTG	0.607													False	0	False	22:51009709	0	C	51009709	A	C	51009709	3	2	88	1	0	0	0	0	1	0	0	0	3855	43	2	4	585	4	CPT1B	22	51009709	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21780	51009709	294857	20347	28059											
CPT1B	1375	broad.mit.edu	37	chr22	51011411	51011411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagggccacgaagaaagcGgcacgctcgatggcctccaa	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51011411G>A	ENST00000360719.2	-	11	1382	c.1245C>T	c.(1243-1245)gcC>gcT	p.A415A	CPT1B_ENST00000395650.2_Silent_p.A415A|CPT1B_ENST00000405237.3_Silent_p.A415A|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000457250.1_Silent_p.A381A|CPT1B_ENST00000312108.7_Silent_p.A415A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.A212A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	415					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CGAAGAAAGCGGCACGCTCGA	0.592													False	0	False	22:51011411	0	A	51011411	G	A	51011411	2	1	88	1	0	0	0	0	0	0	0	1	3855	1103	39	1		1	CPT1B	22	51011411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1702	51011411	293155	20348	28060											
CPT1B	1375	broad.mit.edu	37	chr22	51012041	51012041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaactgcatctccagatcCtgaggcttgagcagacgggc	13	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51012041C>A	ENST00000360719.2	-	10	1211	c.1074G>T	c.(1072-1074)caG>caT	p.Q358H	CPT1B_ENST00000395650.2_Missense_Mutation_p.Q358H|CPT1B_ENST00000405237.3_Missense_Mutation_p.Q358H|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000457250.1_Missense_Mutation_p.Q324H|CPT1B_ENST00000312108.7_Missense_Mutation_p.Q358H|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.Q155H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	358					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCTCCAGATCCTGAGGCTTGA	0.612													False	0	False	22:51012041	0	A	51012041	C	A	51012041	3	1	88	1	0	0	0	0	1	0	0	0	3855	680	24	3	1284	3	CPT1B	22	51012041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	630	51012041	292525	20349	28061											
CPT1B	1375	broad.mit.edu	37	chr22	51012062	51012062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggcttgagcagacgggcGccctcatagagccacagctt	13	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51012062G>A	ENST00000360719.2	-	10	1190	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	CPT1B_ENST00000395650.2_Silent_p.G351G|CPT1B_ENST00000405237.3_Silent_p.G351G|CPT1B_ENST00000440709.1_Silent_p.G351G|CPT1B_ENST00000457250.1_Silent_p.G317G|CPT1B_ENST00000312108.7_Silent_p.G351G|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.G148G	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	351					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GCAGACGGGCGCCCTCATAGA	0.612													False	0	True	22:51012062	0	A	51012062	G	A	51012062	2	1	88	1	0	0	0	0	0	0	0	1	3855	1074	38	1		1	CPT1B	22	51012062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	51012062	292504	20350	28062											
CPT1B	1375	broad.mit.edu	37	chr22	51014508	51014508	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgagagggctcctgcctcGaaggtagatgtactcttccc	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51014508G>A	ENST00000360719.2	-	7	870	c.733C>T	c.(733-735)Cga>Tga	p.R245*	CPT1B_ENST00000395650.2_Nonsense_Mutation_p.R245*|CPT1B_ENST00000405237.3_Nonsense_Mutation_p.R245*|CPT1B_ENST00000440709.1_Nonsense_Mutation_p.R245*|CPT1B_ENST00000457250.1_Nonsense_Mutation_p.R211*|CPT1B_ENST00000312108.7_Nonsense_Mutation_p.R245*|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Nonsense_Mutation_p.R42*	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	245					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.R245*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTCCTGCCTCGAAGGTAGATG	0.582											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	22:51014508	0	A	51014508	G	A	51014508	4	1	88	1	0	0	0	0	0	1	0	0	3855	1066	37	1	1637	1	CPT1B	22	51014508	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2446	51014508	290058	20351	28063											
CPT1B	1375	broad.mit.edu	37	chr22	51015765	51015765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttacccctgagggaggCatctctggatgcaactgacc	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51015765C>T	ENST00000360719.2	-	3	406	c.269G>A	c.(268-270)tGc>tAc	p.C90Y	CPT1B_ENST00000395650.2_Missense_Mutation_p.C90Y|CPT1B_ENST00000405237.3_Missense_Mutation_p.C90Y|CPT1B_ENST00000440709.1_Missense_Mutation_p.C90Y|CPT1B_ENST00000457250.1_Missense_Mutation_p.C90Y|CPT1B_ENST00000312108.7_Missense_Mutation_p.C90Y|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_5'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	90					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTGAGGGAGGCATCTCTGGAT	0.617													False	0	True	22:51015765	0	T	51015765	C	T	51015765	3	4	88	1	0	0	0	0	1	0	0	0	3855	710	25	2	2117	2	CPT1B	22	51015765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1257	51015765	288801	20352	28064											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51043397	51043397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggcgctgctaggcggcgGtcaggtctcgggggacacct	18	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51043397G>A	ENST00000399908.2	+	3	1588	c.872G>A	c.(871-873)gGt>gAt	p.G291D	MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G291D|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G177D|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G262D|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G556D	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	557	Ser-rich.				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTAGGCGGCGGTCAGGTCTCG	0.672													False	0	False	22:51043397	0	A	51043397	G	A	51043397	3	1	88	1	0	0	0	0	1	0	0	0	9352	1261	44	2	1777	2	MAPK8IP2	22	51043397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27632	51043397	261169	20353	28065											
ARSA	410	broad.mit.edu	37	chr22	51063696	51063696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgaaggtcacagctgcGtctaactgggccttgagcag	15	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51063696G>A	ENST00000547307.1	-	8	1806	c.1401C>T	c.(1399-1401)gaC>gaT	p.D467D	ARSA_ENST00000356098.5_Silent_p.D469D|ARSA_ENST00000216124.5_Silent_p.D469D|ARSA_ENST00000395619.3_Silent_p.D469D|ARSA_ENST00000395621.3_Silent_p.D469D|ARSA_ENST00000453344.2_Silent_p.D383D|ARSA_ENST00000547805.1_Silent_p.D467D			P15289	ARSA_HUMAN	arylsulfatase A	467						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	TCACAGCTGCGTCTAACTGGG	0.677													False	0	False	22:51063696	0	A	51063696	G	A	51063696	2	1	88	1	0	0	0	0	0	0	0	1	991	1136	40	1		1	ARSA	22	51063696	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20299	51063696	240870	20354	28066											
SHANK3	85358	broad.mit.edu	37	chr22	51142313	51142313	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggaggaccggacgaagcgGctctttcggcactacacagt	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51142313G>T	ENST00000414786.2	+	13	1823	c.1596G>T	c.(1594-1596)cgG>cgT	p.R532R	SHANK3_ENST00000262795.3_Silent_p.R562R|SHANK3_ENST00000445220.2_Silent_p.R547R			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	562										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGACGAAGCGGCTCTTTCGGC	0.642													False	0	False	22:51142313	0	T	51142313	G	T	51142313	2	4	88	1	0	0	0	0	0	0	0	1	14347	1190	42	3		3	SHANK3	22	51142313	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78617	51142313	162253	20355	28067											
ACR	49	broad.mit.edu	37	chr22	51182561	51182561	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgtgtaactcgacccAgtggtacaatgggcgcgttc	13	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51182561A>C	ENST00000216139.5	+	4	678	c.638A>C	c.(637-639)cAg>cCg	p.Q213P		NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	213	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		AACTCGACCCAGTGGTACAAT	0.567													False	0	True	22:51182561	0	C	51182561	A	C	51182561	3	2	88	1	0	0	0	0	1	0	0	0	169	188	7	4	652	4	ACR	22	51182561	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40248	51182561	122005	20356	28068											
RABL2B	11158	broad.mit.edu	37	chr22	51208393	51208393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaactcccgaagctctgTataccaggtgctcaggttcc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51208393T>C	ENST00000395595.3	-	7	816	c.349A>G	c.(349-351)Aca>Gca	p.T117A	RABL2B_ENST00000354869.3_Missense_Mutation_p.T117A|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000435118.1_Missense_Mutation_p.T117A|RABL2B_ENST00000395598.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395591.1_Intron|RABL2B_ENST00000395593.3_Missense_Mutation_p.T117A	NM_001130921.1	NP_001124393.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	117					small GTPase mediated signal transduction		GTP binding|GTPase activity			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAGCTCTGTATACCAGGTG	0.498													False	0	False	22:51208393	0	C	51208393	T	C	51208393	3	2	88	1	0	0	0	0	1	0	0	0	13050	1638	57	4	386	4	RABL2B	22	51208393	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25832	51208393	96173	20357	28069											
PLCXD1	55344	broad.mit.edu	37	chrX	207360	207360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgccggggtgcggtacctgGacctgcggatagcccacatg	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:207360G>T	ENST00000381657.2	+	4	824	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	PLCXD1_ENST00000399012.1_Missense_Mutation_p.D104Y|PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000381663.3_Missense_Mutation_p.D104Y	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	104	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGGTACCTGGACCTGCGGAT	0.652													False	0	False	X:207360	0	T	207360	G	T	207360	3	4	88	1	0	0	0	0	1	0	0	0	12110	1174	41	3	320	3	PLCXD1	23	207360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		207360	155063200	20358	28070											
PPP2R3B	28227	broad.mit.edu	37	chrX	301612	301612	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctcctcgtagaagtactcGagctcgaacatggacagggc	12	11	0	1	rs142640052	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:301612G>A	ENST00000390665.3	-	10	1257	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	413	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAAGTACTCGAGCTCGAACA	0.652													False	0	False	X:301612	0	A	301612	G	A	301612	2	1	88	1	0	0	0	0	0	0	0	1	12463	1045	37	1		1	PPP2R3B	23	301612	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94252	301612	154968948	20359	28071											
P2RY8	286530	broad.mit.edu	37	chrX	1584758	1584758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcccaccgcgcgcctccGctgctcccggccgtgcgcct	12	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1584758G>A	ENST00000381297.4	-	2	904	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	232						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCGCCTCCGCTGCTCCCGG	0.662			T	CRLF2	"B-ALL, Downs associated ALL"								False	0	False	X:1584758	0	A	1584758	G	A	1584758	3	1	88	1	0	0	0	0	1	0	0	0	11423	1086	38	1	389	1	P2RY8	23	1584758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1283146	1584758	153685802	20360	28072											
P2RY8	286530	broad.mit.edu	37	chrX	1585098	1585098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccccaggaagcgctccacGctgatacaggtcatggtgag	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1585098G>A	ENST00000381297.4	-	2	564	c.354C>T	c.(352-354)agC>agT	p.S118S		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	118						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCGCTCCACGCTGATACAGG	0.632			T	CRLF2	"B-ALL, Downs associated ALL"								False	0	False	X:1585098	0	A	1585098	G	A	1585098	2	1	88	1	0	0	0	0	0	0	0	1	11423	1078	38	1		1	P2RY8	23	1585098	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340	1585098	153685462	20361	28073											
ASMT	438	broad.mit.edu	37	chrX	1746651	1746651	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgctgaagagctttttAcggccatctacaggtaacac	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1746651A>C	ENST00000381241.3	+	4	629	c.430A>C	c.(430-432)Acg>Ccg	p.T144P	ASMT_ENST00000381229.4_Missense_Mutation_p.T144P|ASMT_ENST00000381233.3_Missense_Mutation_p.T144P|ASMT_ENST00000509780.1_3'UTR	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	144					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAGCTTTTTACGGCCATCTA	0.393													False	0	True	X:1746651	0	C	1746651	A	C	1746651	3	2	88	1	0	0	0	0	1	0	0	0	1049	391	14	4	444	4	ASMT	23	1746651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	161553	1746651	153523909	20362	28074											
DHRSX	207063	broad.mit.edu	37	chrX	2139202	2139202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgttgtataggtaatgGccaccaactccttccagctc	7	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2139202G>A	ENST00000334651.5	-	7	925	c.873C>T	c.(871-873)ggC>ggT	p.G291G		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	291							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ATAGGTAATGGCCACCAACTC	0.532													False	0	False	X:2139202	0	A	2139202	G	A	2139202	2	1	88	1	0	0	0	0	0	0	0	1	4529	1190	42	2		2	DHRSX	23	2139202	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	392551	2139202	153131358	20363	28075											
ZBED1	9189	broad.mit.edu	37	chrX	2406797	2406797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctcgggttccgcctctGccccactccgggcgttctca	11	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2406797G>A	ENST00000381223.4	-	2	2167	c.1964C>T	c.(1963-1965)gCa>gTa	p.A655V	ZBED1_ENST00000381222.2_Missense_Mutation_p.A655V|ZBED1_ENST00000381218.3_Missense_Mutation_p.A655V|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	655						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCGCCTCTGCCCCACTCCG	0.657													False	0	True	X:2406797	0	A	2406797	G	A	2406797	3	1	88	1	0	0	0	0	1	0	0	0	17601	1319	46	2	124	2	ZBED1	23	2406797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	267595	2406797	152863763	20364	28076											
ZBED1	9189	broad.mit.edu	37	chrX	2406917	2406917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagacgctcaggggcgacgCgcgtggccgtcacgcaccag	16	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2406917C>T	ENST00000381223.4	-	2	2047	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	ZBED1_ENST00000381222.2_Missense_Mutation_p.R615H|ZBED1_ENST00000381218.3_Missense_Mutation_p.R615H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'UTR	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	615						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGGCGACGCGCGTGGCCGT	0.662													False	0	True	X:2406917	0	T	2406917	C	T	2406917	3	4	88	1	0	0	0	0	1	0	0	0	17601	768	27	1	244	1	ZBED1	23	2406917	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120	2406917	152863643	20365	28077											
ZBED1	9189	broad.mit.edu	37	chrX	2407814	2407814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtactccaccagtttgCggcagcgcgacagcagcgcc	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2407814C>T	ENST00000381223.4	-	2	1150	c.947G>A	c.(946-948)cGc>cAc	p.R316H	ZBED1_ENST00000381222.2_Missense_Mutation_p.R316H|ZBED1_ENST00000381218.3_Missense_Mutation_p.R316H|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	316						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACCAGTTTGCGGCAGCGCGA	0.622													False	0	False	X:2407814	0	T	2407814	C	T	2407814	3	4	88	1	0	0	0	0	1	0	0	0	17601	768	27	1	1141	1	ZBED1	23	2407814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	897	2407814	152862746	20366	28078											
ZBED1	9189	broad.mit.edu	37	chrX	2408449	2408449	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagcgcgtcctgcccgggCtgctgggacgactcgggctt	16	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2408449C>A	ENST00000381223.4	-	2	515	c.312G>T	c.(310-312)caG>caT	p.Q104H	ZBED1_ENST00000381222.2_Missense_Mutation_p.Q104H|ZBED1_ENST00000381218.3_Missense_Mutation_p.Q104H|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	104						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGCCCGGGCTGCTGGGACG	0.667													False	0	True	X:2408449	0	A	2408449	C	A	2408449	3	1	88	1	0	0	0	0	1	0	0	0	17601	796	28	3	1776	3	ZBED1	23	2408449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	635	2408449	152862111	20367	28079											
XG	7499	broad.mit.edu	37	chrX	2707735	2707735	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccccagcctggcaattccGgcaacagtggaggtaatgag	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2707735G>T	ENST00000426774.1	+	5	464	c.241G>T	c.(241-243)Ggc>Tgc	p.G81C	XG_ENST00000419513.2_Missense_Mutation_p.G81C|XG_ENST00000381174.5_Missense_Mutation_p.G81C	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	81						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGCAATTCCGGCAACAGTGG	0.303													False	0	False	X:2707735	0	T	2707735	G	T	2707735	3	4	88	1	0	0	0	0	1	0	0	0	17511	1116	39	3	259	3	XG	23	2707735	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299286	2707735	152562825	20368	28080											
ARSE	415	broad.mit.edu	37	chrX	2861177	2861177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctagggaaccgccgtgatccGacgtaaaataaatgagggtg	13	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2861177G>A	ENST00000545496.1	-	9	1421	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L	ARSE_ENST00000381134.3_Missense_Mutation_p.S352L|ARSE_ENST00000540563.1_Missense_Mutation_p.S307L	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	352					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCGTGATCCGACGTAAAATA	0.473													False	0	False	X:2861177	0	A	2861177	G	A	2861177	3	1	88	1	0	0	0	0	1	0	0	0	994	1059	37	1	730	1	ARSE	23	2861177	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153442	2861177	152409383	20369	28081											
ARSH	347527	broad.mit.edu	37	chrX	2933300	2933300	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctttctgtttttcacttcCtggtactctagttatggatt	7	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2933300C>A	ENST00000381130.2	+	4	630	c.630C>A	c.(628-630)tcC>tcA	p.S210S		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	210						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTTTCACTTCCTGGTACTCTA	0.453													False	0	False	X:2933300	0	A	2933300	C	A	2933300	2	1	88	1	0	0	0	0	0	0	0	1	997	668	24	3		3	ARSH	23	2933300	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72123	2933300	152337260	20370	28082											
ARSH	347527	broad.mit.edu	37	chrX	2945456	2945456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgatcaatgagcccaccaGcttaatggacatctatccga	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2945456G>T	ENST00000381130.2	+	7	1139	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	380						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GAGCCCACCAGCTTAATGGAC	0.522													False	0	False	X:2945456	0	T	2945456	G	T	2945456	3	4	88	1	0	0	0	0	1	0	0	0	997	971	34	3	1165	3	ARSH	23	2945456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12156	2945456	152325104	20371	28083											
ARSF	416	broad.mit.edu	37	chrX	3030396	3030396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgacacctgccacagaGcccctccatgattttgtgat	7	16	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3030396G>A	ENST00000381127.1	+	11	1793	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	ARSF_ENST00000359361.2_Silent_p.E524E|ARSF_ENST00000537104.1_Silent_p.E524E	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	524						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCCACAGAGCCCCTCCATG	0.542													False	0	True	X:3030396	0	A	3030396	G	A	3030396	2	1	88	1	0	0	0	0	0	0	0	1	995	962	34	2		2	ARSF	23	3030396	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84940	3030396	152240164	20372	28084											
MXRA5	25878	broad.mit.edu	37	chrX	3235453	3235453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggaggaactgcgaggggCggatctgggtaccgtccccg	18	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3235453C>T	ENST00000217939.6	-	6	6423	c.6269G>A	c.(6268-6270)cGc>cAc	p.R2090H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2090	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGCGAGGGGCGGATCTGGGT	0.652													False	0	True	X:3235453	0	T	3235453	C	T	3235453	3	4	88	1	0	0	0	0	1	0	0	0	10070	768	27	1	2225	1	MXRA5	23	3235453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205057	3235453	152035107	20373	28085											
MXRA5	25878	broad.mit.edu	37	chrX	3240577	3240577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taatcagtaaggtgtcttgaGtgcttagactacttttcaca	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3240577G>T	ENST00000217939.6	-	5	3303	c.3149C>A	c.(3148-3150)aCt>aAt	p.T1050N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1050						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTGTCTTGAGTGCTTAGACT	0.443													False	0	False	X:3240577	0	T	3240577	G	T	3240577	3	4	88	1	0	0	0	0	1	0	0	0	10070	1029	36	3	5349	3	MXRA5	23	3240577	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5124	3240577	152029983	20374	28086											
MXRA5	25878	broad.mit.edu	37	chrX	3241106	3241106	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttacttcaggttcaacaaGaataactccattgtggttgt	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3241106G>T	ENST00000217939.6	-	5	2774	c.2620C>A	c.(2620-2622)Ctt>Att	p.L874I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	874						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTCAACAAGAATAACTCCA	0.473													False	0	False	X:3241106	0	T	3241106	G	T	3241106	3	4	88	1	0	0	0	0	1	0	0	0	10070	942	33	3	5878	3	MXRA5	23	3241106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	529	3241106	152029454	20375	28087											
MXRA5	25878	broad.mit.edu	37	chrX	3242815	3242815	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttctccaggatgagctggCtgccaccatcctcttcctgt	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3242815C>A	ENST00000217939.6	-	5	1065	c.911G>T	c.(910-912)aGc>aTc	p.S304I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	304						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATGAGCTGGCTGCCACCATC	0.507													False	0	True	X:3242815	0	A	3242815	C	A	3242815	3	1	88	1	0	0	0	0	1	0	0	0	10070	797	28	3	7587	3	MXRA5	23	3242815	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1709	3242815	152027745	20376	28088											
MXRA5	25878	broad.mit.edu	37	chrX	3248806	3248806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgacagggcctgtatgCtattaaacctaaagaatggt	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3248806C>T	ENST00000217939.6	-	3	351	c.197G>A	c.(196-198)aGc>aAc	p.S66N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	66						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGCCTGTATGCTATTAAACCT	0.373													False	0	False	X:3248806	0	T	3248806	C	T	3248806	3	4	88	1	0	0	0	0	1	0	0	0	10070	797	28	2	8309	2	MXRA5	23	3248806	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5991	3248806	152021754	20377	28089											
MXRA5	25878	broad.mit.edu	37	chrX	3261761	3261761	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcggaacgtgcagtggacCtcgctggggacgtagcaggc	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3261761C>A	ENST00000217939.6	-	2	268	c.114G>T	c.(112-114)gaG>gaT	p.E38D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	38	LRRNT.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCAGTGGACCTCGCTGGGGA	0.617													False	0	False	X:3261761	0	A	3261761	C	A	3261761	3	1	88	1	0	0	0	0	1	0	0	0	10070	680	24	3	8396	3	MXRA5	23	3261761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12955	3261761	152008799	20378	28090											
NLGN4X	57502	broad.mit.edu	37	chrX	5950748	5950748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccttcgtcttcaccacgGtcattactcgttatatcatc	4	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:5950748G>A	ENST00000381093.2	-	3	979	c.516C>T	c.(514-516)gaC>gaT	p.D172D	NLGN4X_ENST00000538097.1_Intron|NLGN4X_ENST00000381092.1_Intron|NLGN4X_ENST00000275857.6_Intron|NLGN4X_ENST00000381095.3_Intron			Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	157					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CTTCACCACGGTCATTACTCG	0.343													False	0	False	X:5950748	0	A	5950748	G	A	5950748	2	1	88	1	0	0	0	0	0	0	0	1	10532	1276	44	2		2	NLGN4X	23	5950748	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2688987	5950748	149319812	20379	28091											
STS	412	broad.mit.edu	37	chrX	7252125	7252125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaacgcctacttaaatgCtgtgcgctggcaccctcaga	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:7252125C>A	ENST00000217961.4	+	9	1575	c.1355C>A	c.(1354-1356)gCt>gAt	p.A452D		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	452					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TACTTAAATGCTGTGCGCTGG	0.478									Ichthyosis				False	0	False	X:7252125	0	A	7252125	C	A	7252125	3	1	88	1	0	0	0	0	1	0	0	0	15414	797	28	3	1389	3	STS	23	7252125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1301377	7252125	148018435	20380	28092											
VCX3B	0	broad.mit.edu	37	chrX	8433520	8433520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagccgagagcctcgggacCtccggccaaggccaaggagg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:8433520C>A	ENST00000381032.1	+	2	336	c.29C>A	c.(28-30)cCt>cAt	p.P10H	VCX3B_ENST00000444481.1_Missense_Mutation_p.P10H|VCX3B_ENST00000381029.4_Missense_Mutation_p.P10H|VCX3B_ENST00000440654.2_Missense_Mutation_p.P10H|VCX3B_ENST00000453306.1_Missense_Mutation_p.P10H	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	10						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GCCTCGGGACCTCCGGCCAAG	0.607													False	0	False	X:8433520	0	A	8433520	C	A	8433520	3	1	88	1	0	0	0	0	1	0	0	0	17229	681	24	3	31	3	VCX3B	23	8433520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1181395	8433520	146837040	20381	28093											
VCX3B	0	broad.mit.edu	37	chrX	8434386	8434386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgagatggaagaaccactgAgtcaggagagcgagatggaa	16	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:8434386A>G	ENST00000381032.1	+	3	1010	c.703A>G	c.(703-705)Agt>Ggt	p.S235G	VCX3B_ENST00000444481.1_Missense_Mutation_p.S205G|VCX3B_ENST00000381029.4_Missense_Mutation_p.S203G|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000453306.1_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	81						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AGAACCACTGAGTCAGGAGAG	0.567													False	0	False	X:8434386	0	G	8434386	A	G	8434386	3	3	88	1	0	0	0	0	1	0	0	0	17229	304	11	4	623	4	VCX3B	23	8434386	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	866	8434386	146836174	20382	28094											
FAM9B	171483	broad.mit.edu	37	chrX	9000434	9000434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttccccatgctcatcagTtacatcttcctcccttgttt	3	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9000434T>C	ENST00000362066.3	-	2	420	c.232A>G	c.(232-234)Act>Gct	p.T78A	FAM9B_ENST00000428477.1_Missense_Mutation_p.T33A|FAM9B_ENST00000327220.5_Missense_Mutation_p.T33A			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	33						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TGCTCATCAGTTACATCTTCC	0.403													False	0	False	X:9000434	0	C	9000434	T	C	9000434	3	2	88	1	0	0	0	0	1	0	0	0	5700	1725	60	4	487	4	FAM9B	23	9000434	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566048	9000434	146270126	20383	28095											
FAM9B	171483	broad.mit.edu	37	chrX	9001030	9001030	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcccccaggccgccataaAttgagcctccaactgggcct	8	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9001030A>C	ENST00000362066.3	-	1	321	c.133T>G	c.(133-135)Ttt>Gtt	p.F45V	FAM9B_ENST00000428477.1_5'UTR|FAM9B_ENST00000327220.5_5'UTR			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	0						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				GCCGCCATAAATTGAGCCTCC	0.602													False	0	True	X:9001030	0	C	9001030	A	C	9001030	3	2	88	1	0	0	0	0	1	0	0	0	5700	116	4	4		4	FAM9B	23	9001030	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	596	9001030	146269530	20384	28096											
GPR143	4935	broad.mit.edu	37	chrX	9728834	9728834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcaacaaaatttgggaAtcctaaccacacggtggacc	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9728834A>G	ENST00000467482.1	-	2	429	c.283T>C	c.(283-285)Ttc>Ctc	p.F95L	GPR143_ENST00000380929.2_Missense_Mutation_p.F115L			P51810	GP143_HUMAN	G protein-coupled receptor 143	95					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AAATTTGGGAATCCTAACCAC	0.473													False	0	False	X:9728834	0	G	9728834	A	G	9728834	3	3	88	1	0	0	0	0	1	0	0	0	6697	101	4	4	963	4	GPR143	23	9728834	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	727804	9728834	145541726	20385	28097											
SHROOM2	357	broad.mit.edu	37	chrX	9863881	9863881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccaagctgcagaagagcCggagcacagtggctctgact	14	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9863881C>T	ENST00000380913.3	+	4	2023	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	645					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCAGAAGAGCCGGAGCACAGT	0.667													False	0	False	X:9863881	0	T	9863881	C	T	9863881	3	4	88	1	0	0	0	0	1	0	0	0	14375	643	23	1	1947	1	SHROOM2	23	9863881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135047	9863881	145406679	20386	28098											
SHROOM2	357	broad.mit.edu	37	chrX	9905433	9905433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagccggctgagccccagCccctgggcacccaggtgccc	12	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9905433C>T	ENST00000380913.3	+	7	3937	c.3847C>T	c.(3847-3849)Ccc>Tcc	p.P1283S	SHROOM2_ENST00000418909.2_Missense_Mutation_p.P118S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1283					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGAGCCCCAGCCCCTGGGCAC	0.642													False	0	True	X:9905433	0	T	9905433	C	T	9905433	3	4	88	1	0	0	0	0	1	0	0	0	14375	739	26	2	3873	2	SHROOM2	23	9905433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41552	9905433	145365127	20387	28099											
CLCN4	0	broad.mit.edu	37	chrX	10180547	10180547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagcatggctgtgggcgCgatagcgggcaggatggtgg	19	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10180547C>T	ENST00000380833.4	+	10	1821	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	CLCN4_ENST00000421085.2_Missense_Mutation_p.A383V|CLCN4_ENST00000380829.1_Missense_Mutation_p.A446V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	477						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGTGGGCGCGATAGCGGGC	0.577													False	0	False	X:10180547	0	T	10180547	C	T	10180547	3	4	88	1	0	0	0	0	1	0	0	0	3488	768	27	1	1460	1	CLCN4	23	10180547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275114	10180547	145090013	20388	28100											
MID1	0	broad.mit.edu	37	chrX	10417463	10417463	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatagggagcccagtgataAtcgtcagacacttgttccac	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10417463A>C	ENST00000317552.4	-	10	2349	c.1949T>G	c.(1948-1950)aTt>aGt	p.I650S	MID1_ENST00000453318.2_Missense_Mutation_p.I650S|MID1_ENST00000380787.1_Missense_Mutation_p.I650S|MID1_ENST00000380779.1_Missense_Mutation_p.I650S|MID1_ENST00000380780.1_Missense_Mutation_p.I650S|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.I650S	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	650	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCAGTGATAATCGTCAGACA	0.532													False	0	False	X:10417463	0	C	10417463	A	C	10417463	3	2	88	1	0	0	0	0	1	0	0	0	9643	101	4	4	58	4	MID1	23	10417463	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	236916	10417463	144853097	20389	28101											
MID1	0	broad.mit.edu	37	chrX	10427733	10427733	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcggctgcccgcctggTtgatggccttgaccatgaag	14	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10427733T>A	ENST00000317552.4	-	8	1800	c.1400A>T	c.(1399-1401)aAc>aTc	p.N467I	MID1_ENST00000453318.2_Missense_Mutation_p.N467I|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.N467I|MID1_ENST00000380779.1_Missense_Mutation_p.N467I|MID1_ENST00000380780.1_Missense_Mutation_p.N467I|MID1_ENST00000380782.2_Missense_Mutation_p.N467I|MID1_ENST00000380785.1_Missense_Mutation_p.N467I	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	467	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCCGCCTGGTTGATGGCCTT	0.517													False	0	False	X:10427733	0	A	10427733	T	A	10427733	3	1	88	1	0	0	0	0	1	0	0	0	9643	1725	60	5	615	5	MID1	23	10427733	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10270	10427733	144842827	20390	28102											
ARHGAP6	395	broad.mit.edu	37	chrX	11157333	11157333	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtggcccggctctgcaGcccggccacatccagctcac	12	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11157333G>T	ENST00000337414.4	-	13	3447	c.2575C>A	c.(2575-2577)Ctg>Atg	p.L859M	ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L656M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L656M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	859					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGGCTCTGCAGCCCGGCCACA	0.706													False	0	True	X:11157333	0	T	11157333	G	T	11157333	3	4	88	1	0	0	0	0	1	0	0	0	889	962	34	3	353	3	ARHGAP6	23	11157333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	729600	11157333	144113227	20391	28103											
ARHGAP6	395	broad.mit.edu	37	chrX	11160378	11160378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcctgggtctttggatccGctttttaatgttgaatgcca	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11160378G>A	ENST00000337414.4	-	12	3104	c.2232C>T	c.(2230-2232)agC>agT	p.S744S	ARHGAP6_ENST00000534860.1_Silent_p.S569S|ARHGAP6_ENST00000380736.1_Silent_p.S541S|ARHGAP6_ENST00000303025.6_Silent_p.S541S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	744					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.S744S(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTTTGGATCCGCTTTTTAATG	0.303													False	0	False	X:11160378	0	A	11160378	G	A	11160378	2	1	88	1	0	0	0	0	0	0	0	1	889	1078	38	1		1	ARHGAP6	23	11160378	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3045	11160378	144110182	20392	28104											
ARHGAP6	395	broad.mit.edu	37	chrX	11207077	11207077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcaatgacttgggataagGgcattccaaatgcctgtggg	13	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11207077G>A	ENST00000337414.4	-	4	1720	c.848C>T	c.(847-849)cCc>cTc	p.P283L	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.P315L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.P108L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.P92L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P80L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.P283L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P80L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	283					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTGGGATAAGGGCATTCCAAA	0.458													False	0	True	X:11207077	0	A	11207077	G	A	11207077	3	1	88	1	0	0	0	0	1	0	0	0	889	1232	43	2	2238	2	ARHGAP6	23	11207077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46699	11207077	144063483	20393	28105											
MSL3	10943	broad.mit.edu	37	chrX	11783890	11783890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccggggagagccagcGtgtactttgtgtttagtcag	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11783890G>A	ENST00000337339.2	+	9	1240	c.1213G>A	c.(1213-1215)Gtg>Atg	p.V405M	MSL3_ENST00000380693.3_Intron|MSL3_ENST00000361672.2_Intron|MSL3_ENST00000467141.1_Intron|MSL3_ENST00000312196.4_Intron|MSL3_ENST00000398527.2_Intron	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	0					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	p.V405M(1)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GAGAGCCAGCGTGTACTTTGT	0.572													False	0	False	X:11783890	0	A	11783890	G	A	11783890	3	1	88	1	0	0	0	0	1	0	0	0	9946	1145	40	1	1247	1	MSL3	23	11783890	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	576813	11783890	143486670	20394	28106											
FRMPD4	9758	broad.mit.edu	37	chrX	12725605	12725605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggcagaaaagcgctcGgaagtgactctcctggttgg	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12725605G>A	ENST00000380682.1	+	13	1811	c.1305G>A	c.(1303-1305)tcG>tcA	p.S435S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	435	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAAAGCGCTCGGAAGTGACTC	0.443													False	0	False	X:12725605	0	A	12725605	G	A	12725605	2	1	88	1	0	0	0	0	0	0	0	1	6101	1103	39	1		1	FRMPD4	23	12725605	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	941715	12725605	142544955	20395	28107											
FRMPD4	9758	broad.mit.edu	37	chrX	12735057	12735057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggactctcagagccagGcagcttccttccccgaggac	11	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12735057G>A	ENST00000380682.1	+	15	2985	c.2479G>A	c.(2479-2481)Gca>Aca	p.A827T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	827					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAGAGCCAGGCAGCTTCCTT	0.562													False	0	False	X:12735057	0	A	12735057	G	A	12735057	3	1	88	1	0	0	0	0	1	0	0	0	6101	1203	42	2	2537	2	FRMPD4	23	12735057	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9452	12735057	142535503	20396	28108											
TLR8	51311	broad.mit.edu	37	chrX	12937820	12937820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacacgtgccacccaaactgCcaagctccctacgcaaactt	5	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12937820C>A	ENST00000218032.6	+	2	748	c.661C>A	c.(661-663)Cca>Aca	p.P221T	TLR8_ENST00000311912.5_Missense_Mutation_p.P239T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	221					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACCCAAACTGCCAAGCTCCCT	0.368													False	0	False	X:12937820	0	A	12937820	C	A	12937820	3	1	88	1	0	0	0	0	1	0	0	0	16039	739	26	3	667	3	TLR8	23	12937820	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202763	12937820	142332740	20397	28109											
EGFL6	25975	broad.mit.edu	37	chrX	13618094	13618094	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctaaatgtccctgcagAtgtgaatgagtgtggaatga	11	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13618094A>G	ENST00000361306.1	+	4	538	c.281A>G	c.(280-282)gAt>gGt	p.D94G	EGFL6_ENST00000380602.3_Splice_Site_p.D94G	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	94	EGF-like 2; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GTCCCTGCAGATGTGAATGAG	0.478													False	0	False	X:13618094	0	G	13618094	A	G	13618094	5	3	88	1	0	0	0	0	0	0	1	0	4993	347	12	4	295	4	EGFL6	23	13618094	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	680274	13618094	141652466	20398	28110											
EGFL6	25975	broad.mit.edu	37	chrX	13645136	13645136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccttctcttaaagctattgGcttctatatggcagttccgg	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13645136G>T	ENST00000361306.1	+	11	1549	c.1292G>T	c.(1291-1293)gGc>gTc	p.G431V	EGFL6_ENST00000473826.1_3'UTR|EGFL6_ENST00000380602.3_Missense_Mutation_p.G432V	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	431	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAAGCTATTGGCTTCTATATG	0.388													False	0	False	X:13645136	0	T	13645136	G	T	13645136	3	4	88	1	0	0	0	0	1	0	0	0	4993	1203	42	3	1337	3	EGFL6	23	13645136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27042	13645136	141625424	20399	28111											
RAB9A	9367	broad.mit.edu	37	chrX	13727191	13727191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaattcatatattatgCagatgtgaaagagcctgaga	10	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13727191C>T	ENST00000464506.1	+	3	605	c.326C>T	c.(325-327)gCa>gTa	p.A109V	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	109					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						ATATATTATGCAGATGTGAAA	0.418													False	0	False	X:13727191	0	T	13727191	C	T	13727191	3	4	88	1	0	0	0	0	1	0	0	0	13037	710	25	2	328	2	RAB9A	23	13727191	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82055	13727191	141543369	20400	28112											
OFD1	8481	broad.mit.edu	37	chrX	13767603	13767603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactaaaagatatggatttgCtaagaggaagagaagcagag	12	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13767603C>T	ENST00000380567.1	+	10	1338	c.466C>T	c.(466-468)Cta>Tta	p.L156L	OFD1_ENST00000340096.6_Silent_p.L296L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Silent_p.L296L|OFD1_ENST00000380550.3_Silent_p.L296L			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	296					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TATGGATTTGCTAAGAGGAAG	0.303													False	0	False	X:13767603	0	T	13767603	C	T	13767603	2	4	88	1	0	0	0	0	0	0	0	1	10906	796	28	2		2	OFD1	23	13767603	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40412	13767603	141502957	20401	28113											
GEMIN8	54960	broad.mit.edu	37	chrX	14038477	14038477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctcattatcgtaagaGctttggggaagaagcgcaga	13	8	1	3	rs137990246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14038477G>T	ENST00000380523.4	-	4	510	c.192C>A	c.(190-192)agC>agA	p.S64R	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.S64R	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	64					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TATCGTAAGAGCTTTGGGGAA	0.498													False	0	False	X:14038477	0	T	14038477	G	T	14038477	3	4	88	1	0	0	0	0	1	0	0	0	6379	962	34	3	544	3	GEMIN8	23	14038477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270874	14038477	141232083	20402	28114											
GLRA2	2742	broad.mit.edu	37	chrX	14548183	14548183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaacacagaaacaggaatgAaccggcagctagtgaacatt	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14548183A>G	ENST00000218075.4	+	1	534	c.4A>G	c.(4-6)Aac>Gac	p.N2D	GLRA2_ENST00000355020.4_Missense_Mutation_p.N2D|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	2					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AACAGGAATGAACCGGCAGCT	0.378													False	0	False	X:14548183	0	G	14548183	A	G	14548183	3	3	88	1	0	0	0	0	1	0	0	0	6500	246	9	4	6	4	GLRA2	23	14548183	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	509706	14548183	140722377	20403	28115											
GLRA2	2742	broad.mit.edu	37	chrX	14625300	14625300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgagtggttaagtgatggtCcagtgcaagttgctgaagga	15	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14625300C>A	ENST00000218075.4	+	6	1155	c.625C>A	c.(625-627)Cca>Aca	p.P209T	GLRA2_ENST00000355020.4_Missense_Mutation_p.P209T|GLRA2_ENST00000443437.2_Missense_Mutation_p.P120T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	209					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AAGTGATGGTCCAGTGCAAGT	0.403													False	0	False	X:14625300	0	A	14625300	C	A	14625300	3	1	88	1	0	0	0	0	1	0	0	0	6500	855	30	3	719	3	GLRA2	23	14625300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77117	14625300	140645260	20404	28116											
FANCB	2187	broad.mit.edu	37	chrX	14883249	14883249	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaggccatccttcatctcAtagcctagtttaaaactcaa	4	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14883249A>G	ENST00000398334.1	-	3	651	c.384T>C	c.(382-384)taT>taC	p.Y128Y	FANCB_ENST00000324138.3_Silent_p.Y128Y	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	128					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CCTTCATCTCATAGCCTAGTT	0.308								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	X:14883249	0	G	14883249	A	G	14883249	2	3	88	1	0	0	0	0	0	0	0	1	5703	224	8	4		4	FANCB	23	14883249	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	257949	14883249	140387311	20405	28117											
MOSPD2	158747	broad.mit.edu	37	chrX	14915311	14915312	+	In_Frame_Ins	INS	-	-	CAAGACTTATGGCATTATAATATTATTATACAT													gctaagagggaaaatgggaaINSacctgtaacagtgatgtttg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14915311_14915312insCAAGACTTATGGCATTATAATATTATTATACAT	ENST00000380492.3	+	5	516_517	c.428_429insCAAGACTTATGGCATTATAATATTATTATACAT	c.(427-432)aaacct>aaCAAGACTTATGGCATTATAATATTATTATACATacct	p.143_143K>NKTYGIIILLYI	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_In_Frame_Ins_p.143_143K>NKTYGIIILLYI	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	143	CRAL-TRIO.					integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					GAAAATGGGAAACCTGTAACAG	0.376													False	0	True	X:14915311	0	CAAGACTTATGGCATTATAATATTATTATACAT	14915312	-	CAAGACTTATGGCATTATAATATTATTATACAT	14915311	7	5	88	1	0	1	1	0	0	0	0	0	9783	14	1	0	446	0	MOSPD2	23	14915311	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	32062	14915311	140355249	20406	28118											
MOSPD2	158747	broad.mit.edu	37	chrX	14929376	14929376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggatcctttcaagtatagCtatccaccactagtagatga	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14929376C>A	ENST00000380492.3	+	9	808	c.720C>A	c.(718-720)agC>agA	p.S240R	MOSPD2_ENST00000482354.1_Missense_Mutation_p.S240R|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	240			S -> N (in dbSNP:rs35164803).			integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TCAAGTATAGCTATCCACCAC	0.373													False	0	False	X:14929376	0	A	14929376	C	A	14929376	3	1	88	1	0	0	0	0	1	0	0	0	9783	796	28	3	754	3	MOSPD2	23	14929376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14065	14929376	140341184	20407	28119											
ASB9	140462	broad.mit.edu	37	chrX	15276992	15276992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttcaaaaagctacctggCtgatgaggttcctcagagac	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15276992C>A	ENST00000546332.1	-	3	653	c.170G>T	c.(169-171)aGc>aTc	p.S57I	ASB9_ENST00000380485.3_Missense_Mutation_p.S57I|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.S57I|ASB9_ENST00000380488.4_Missense_Mutation_p.S57I	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	57					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AGCTACCTGGCTGATGAGGTT	0.373													False	0	False	X:15276992	0	A	15276992	C	A	15276992	3	1	88	1	0	0	0	0	1	0	0	0	1034	797	28	3	767	3	ASB9	23	15276992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347616	15276992	139993568	20408	28120											
ASB11	0	broad.mit.edu	37	chrX	15301646	15301646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actattggtataggaggaatCgttcgagtggctctggcaga	14	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15301646C>T	ENST00000537676.1	-	7	962	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	ASB11_ENST00000344384.4_Missense_Mutation_p.R297Q|ASB11_ENST00000380470.3_Missense_Mutation_p.R301Q|ASB11_ENST00000480796.1_Missense_Mutation_p.R318Q			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	318	SOCS box.				intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					TAGGAGGAATCGTTCGAGTGG	0.498													False	0	False	X:15301646	0	T	15301646	C	T	15301646	3	4	88	1	0	0	0	0	1	0	0	0	1019	884	31	1	22	1	ASB11	23	15301646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24654	15301646	139968914	20409	28121											
PIR	8544	broad.mit.edu	37	chrX	15403175	15403175	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccctttcaaacccatttTttgcgtttctgaaatcaaga	6	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15403175T>G	ENST00000380421.3	-	10	1284	c.824A>C	c.(823-825)aAa>aCa	p.K275T	PIR_ENST00000380420.5_Missense_Mutation_p.K275T	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	275					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					AAACCCATTTTTTGCGTTTCT	0.418													False	0	True	X:15403175	0	G	15403175	T	G	15403175	3	3	88	1	0	0	0	0	1	0	0	0	12013	1841	64	4	52	4	PIR	23	15403175	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	101529	15403175	139867385	20410	28122											
BMX	660	broad.mit.edu	37	chrX	15552432	15552432	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttttgattccattccaaagCttattcattatcatcaacac	3	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15552432C>A	ENST00000357607.2	+	12	1305	c.1117C>A	c.(1117-1119)Ctt>Att	p.L373I	BMX_ENST00000342014.6_Missense_Mutation_p.L373I|BMX_ENST00000348343.6_Missense_Mutation_p.L373I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	373	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CATTCCAAAGCTTATTCATTA	0.338													False	0	False	X:15552432	0	A	15552432	C	A	15552432	3	1	88	1	0	0	0	0	1	0	0	0	1478	797	28	3	1159	3	BMX	23	15552432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149257	15552432	139718128	20411	28123											
BMX	660	broad.mit.edu	37	chrX	15568034	15568034	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgacaactcccaggtggttCtgaaggtctcccagggccac	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15568034C>A	ENST00000357607.2	+	18	2055	c.1867C>A	c.(1867-1869)Ctg>Atg	p.L623M	BMX_ENST00000342014.6_Missense_Mutation_p.L623M|BMX_ENST00000348343.6_Missense_Mutation_p.L623M			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	623	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CCAGGTGGTTCTGAAGGTCTC	0.572													False	0	False	X:15568034	0	A	15568034	C	A	15568034	3	1	88	1	0	0	0	0	1	0	0	0	1478	912	32	3	1933	3	BMX	23	15568034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15602	15568034	139702526	20412	28124											
ZRSR2	8233	broad.mit.edu	37	chrX	15827333	15827333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaacagttggaaaatgGtaccacatggcaaaacccag	8	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15827333G>A	ENST00000307771.7	+	7	473	c.449G>A	c.(448-450)gGt>gAt	p.G150D		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	150					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TTGGAAAATGGTACCACATGG	0.378			"F, S, Mis"		"MDS, CLL"								False	0	False	X:15827333	0	A	15827333	G	A	15827333	3	1	88	1	0	0	0	0	1	0	0	0	18307	1261	44	2	475	2	ZRSR2	23	15827333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	259299	15827333	139443227	20413	28125											
GRPR	2925	broad.mit.edu	37	chrX	16168591	16168591	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagcaccaaccagaccTtcattagctgtgccccatac	7	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16168591T>G	ENST00000380289.2	+	2	975	c.577T>G	c.(577-579)Ttc>Gtc	p.F193V		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	193					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CAACCAGACCTTCATTAGCTG	0.498													False	0	False	X:16168591	0	G	16168591	T	G	16168591	3	3	88	1	0	0	0	0	1	0	0	0	6855	1609	56	4	583	4	GRPR	23	16168591	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	341258	16168591	139101969	20414	28126											
CTPS2	56474	broad.mit.edu	37	chrX	16635291	16635291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttgccagttcaatgatttCcatcctgtctccatcaacat	4	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16635291C>T	ENST00000443824.1	-	16	2271	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	CTPS2_ENST00000359276.4_Missense_Mutation_p.E510K|CTPS2_ENST00000380241.3_Missense_Mutation_p.E510K	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	510	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TCAATGATTTCCATCCTGTCT	0.378													False	0	True	X:16635291	0	T	16635291	C	T	16635291	3	4	88	1	0	0	0	0	1	0	0	0	4048	864	30	2	244	2	CTPS2	23	16635291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	466700	16635291	138635269	20415	28127											
TXLNG	55787	broad.mit.edu	37	chrX	16855753	16855753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagtttgaagaattccagaCtaccatggcaaaaagcaatg	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16855753C>T	ENST00000380122.5	+	8	1158	c.1097C>T	c.(1096-1098)aCt>aTt	p.T366I	TXLNG_ENST00000398155.4_Missense_Mutation_p.T234I	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	366					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAATTCCAGACTACCATGGCA	0.313													False	0	False	X:16855753	0	T	16855753	C	T	16855753	3	4	88	1	0	0	0	0	1	0	0	0	16873	565	20	2	1127	2	TXLNG	23	16855753	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220462	16855753	138414807	20416	28128											
BEND2	139105	broad.mit.edu	37	chrX	18209204	18209204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgagtaactcattgtcCcataactcatttgtgggcca	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18209204C>T	ENST00000380033.4	-	8	1337	c.1205G>A	c.(1204-1206)gGg>gAg	p.G402E	BEND2_ENST00000380030.3_Missense_Mutation_p.G311E	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	402										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACTCATTGTCCCATAACTCAT	0.368													False	0	True	X:18209204	0	T	18209204	C	T	18209204	3	4	88	1	0	0	0	0	1	0	0	0	1402	623	22	2	1248	2	BEND2	23	18209204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1353451	18209204	137061356	20417	28129											
BEND2	139105	broad.mit.edu	37	chrX	18221838	18221838	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataaagttccatggcataccGaaacaaggaaatgagccacc	8	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18221838G>A	ENST00000380033.4	-	5	822	c.690C>T	c.(688-690)ttC>ttT	p.F230F	BEND2_ENST00000380030.3_Silent_p.F230F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	230								p.F230F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATGGCATACCGAAACAAGGAA	0.453													False	0	True	X:18221838	0	A	18221838	G	A	18221838	2	1	88	1	0	0	0	0	0	0	0	1	1402	1049	37	1		1	BEND2	23	18221838	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12634	18221838	137048722	20418	28130											
CDKL5	6792	broad.mit.edu	37	chrX	18646512	18646512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagccattaaaatcactgCgcaagttgttacatctctct	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18646512C>T	ENST00000379989.3	+	19	2803	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	CDKL5_ENST00000379996.3_Missense_Mutation_p.R840C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	840					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AAAATCACTGCGCAAGTTGTT	0.493													False	0	False	X:18646512	0	T	18646512	C	T	18646512	3	4	88	1	0	0	0	0	1	0	0	0	3180	768	27	1	2584	1	CDKL5	23	18646512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	424674	18646512	136624048	20419	28131											
RS1	6247	broad.mit.edu	37	chrX	18662597	18662597	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaaatccagttcaggcgctCatcggtcctgtactgcacgc	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18662597C>A	ENST00000379984.3	-	5	515	c.475G>T	c.(475-477)Gag>Tag	p.E159*	CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	159	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		p.E159K(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TTCAGGCGCTCATCGGTCCTG	0.527													False	0	False	X:18662597	0	A	18662597	C	A	18662597	4	1	88	1	0	0	0	0	0	1	0	0	13772	835	29	3	207	3	RS1	23	18662597	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16085	18662597	136607963	20420	28132											
CDKL5	6792	broad.mit.edu	37	chrX	18671647	18671647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacataccatgagaatgcgGcactgacgggcaagtgactt	12	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18671647G>A	ENST00000379989.3	+	22	3361	c.3076G>A	c.(3076-3078)Gca>Aca	p.A1026T	CDKL5_ENST00000379996.3_Missense_Mutation_p.A1026T|RS1_ENST00000379984.3_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	1026					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGAGAATGCGGCACTGACGGG	0.517													False	0	False	X:18671647	0	A	18671647	G	A	18671647	3	1	88	1	0	0	0	0	1	0	0	0	3180	1203	42	2	3154	2	CDKL5	23	18671647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9050	18671647	136598913	20421	28133											
PPEF1	5475	broad.mit.edu	37	chrX	18824540	18824540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgactatattttctgCttctaattattatgaagaag	9	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18824540C>T	ENST00000361511.4	+	15	1765	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V	PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000544635.1_Missense_Mutation_p.A359V|PPEF1_ENST00000359763.6_Missense_Mutation_p.A371V|PPEF1_ENST00000349874.5_Missense_Mutation_p.A362V	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	424	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATATTTTCTGCTTCTAATTAT	0.373													False	0	False	X:18824540	0	T	18824540	C	T	18824540	3	4	88	1	0	0	0	0	1	0	0	0	12376	797	28	2	1317	2	PPEF1	23	18824540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152893	18824540	136446020	20422	28134											
PPEF1	5475	broad.mit.edu	37	chrX	18843868	18843868	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagaaaatctttattttaGgctcattctactctagttga	5	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18843868G>A	ENST00000361511.4	+	18	2159		c.e18-1		PPEF1_ENST00000543630.1_Splice_Site|PPEF1_ENST00000544635.1_Splice_Site|PPEF1_ENST00000359763.6_Splice_Site|PPEF1_ENST00000349874.5_Splice_Site	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1						detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CTTTATTTTAGGCTCATTCTA	0.318													False	0	False	X:18843868	0	A	18843868	G	A	18843868	5	1	88	1	0	0	0	0	0	0	1	0	12376	1014	35	2	1723	2	PPEF1	23	18843868	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19328	18843868	136426692	20423	28135											
PHKA2	5256	broad.mit.edu	37	chrX	18911732	18911732	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaagtggcagattcctgtGgcttggtctttctccagggt	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18911732G>T	ENST00000379942.4	-	33	4244	c.3579C>A	c.(3577-3579)gcC>gcA	p.A1193A	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1193					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGATTCCTGTGGCTTGGTCTT	0.537													False	0	False	X:18911732	0	T	18911732	G	T	18911732	2	4	88	1	0	0	0	0	0	0	0	1	11913	1335	47	3		3	PHKA2	23	18911732	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67864	18911732	136358828	20424	28136											
GPR64	10149	broad.mit.edu	37	chrX	19028891	19028891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaatactgctggtgttgaCgatgtctatatcaaagagcc	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19028891C>T	ENST00000354791.3	-	16	1298	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I	GPR64_ENST00000340581.3_Missense_Mutation_p.V339I|GPR64_ENST00000357544.3_Missense_Mutation_p.V339I|GPR64_ENST00000356606.4_Missense_Mutation_p.V355I|GPR64_ENST00000360279.4_Missense_Mutation_p.V347I|GPR64_ENST00000379873.2_Missense_Mutation_p.V369I|GPR64_ENST00000357991.3_Missense_Mutation_p.V366I|GPR64_ENST00000379878.3_Missense_Mutation_p.V353I|GPR64_ENST00000379876.1_Missense_Mutation_p.V345I|GPR64_ENST00000379869.3_Missense_Mutation_p.V369I			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	369					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CTGGTGTTGACGATGTCTATA	0.438													False	0	False	X:19028891	0	T	19028891	C	T	19028891	3	4	88	1	0	0	0	0	1	0	0	0	6751	536	19	1	2000	1	GPR64	23	19028891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117159	19028891	136241669	20425	28137											
GPR64	10149	broad.mit.edu	37	chrX	19086907	19086907	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgaacgtcagtaaaacttCttcagttctgccaacatggc	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19086907C>T	ENST00000354791.3	-	3	287	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	GPR64_ENST00000340581.3_Missense_Mutation_p.E16K|GPR64_ENST00000357544.3_Missense_Mutation_p.E16K|GPR64_ENST00000356606.4_Missense_Mutation_p.E16K|GPR64_ENST00000360279.4_Missense_Mutation_p.E16K|GPR64_ENST00000379873.2_Missense_Mutation_p.E16K|GPR64_ENST00000357991.3_Missense_Mutation_p.E16K|GPR64_ENST00000379878.3_Missense_Mutation_p.E16K|GPR64_ENST00000379876.1_Missense_Mutation_p.E16K|GPR64_ENST00000379869.3_Missense_Mutation_p.E16K			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	16					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGTAAAACTTCTTCAGTTCTG	0.403													False	0	False	X:19086907	0	T	19086907	C	T	19086907	3	4	88	1	0	0	0	0	1	0	0	0	6751	922	32	2	3115	2	GPR64	23	19086907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58016	19086907	136183653	20426	28138											
PDHA1	5160	broad.mit.edu	37	chrX	19373539	19373539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttcatctgtgagaataatCgctatggaatgggaacgtct	10	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19373539C>T	ENST00000379806.5	+	8	935	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	PDHA1_ENST00000545074.1_Missense_Mutation_p.R233C|PDHA1_ENST00000540249.1_Missense_Mutation_p.R195C|PDHA1_ENST00000422285.2_Missense_Mutation_p.R226C	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	226					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	TGAGAATAATCGCTATGGAAT	0.458													False	0	False	X:19373539	0	T	19373539	C	T	19373539	3	4	88	1	0	0	0	0	1	0	0	0	11732	884	31	1	841	1	PDHA1	23	19373539	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286632	19373539	135897021	20427	28139											
MAP3K15	389840	broad.mit.edu	37	chrX	19379653	19379653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccttgcagccgcaaccaGtctataagctctttatctgt	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19379653G>A	ENST00000338883.4	-	27	3737	c.3738C>T	c.(3736-3738)gaC>gaT	p.D1246D	MAP3K15_ENST00000359173.3_Silent_p.D681D|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000469203.2_Silent_p.D1078D|PDHA1_ENST00000540249.1_3'UTR|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1246							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCCGCAACCAGTCTATAAGCT	0.403													False	0	False	X:19379653	0	A	19379653	G	A	19379653	2	1	88	1	0	0	0	0	0	0	0	1	9316	1020	36	2		2	MAP3K15	23	19379653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6114	19379653	135890907	20428	28140											
MAP3K15	389840	broad.mit.edu	37	chrX	19413252	19413252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgttctctgaaacagagCccaggtactgaacgatattg	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19413252C>T	ENST00000338883.4	-	16	2140	c.2141G>A	c.(2140-2142)gGc>gAc	p.G714D	MAP3K15_ENST00000359173.3_Missense_Mutation_p.G149D|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G546D|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	714	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGAAACAGAGCCCAGGTACTG	0.483													False	0	True	X:19413252	0	T	19413252	C	T	19413252	3	4	88	1	0	0	0	0	1	0	0	0	9316	739	26	2	1856	2	MAP3K15	23	19413252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33599	19413252	135857308	20429	28141											
MAP7D2	256714	broad.mit.edu	37	chrX	20074873	20074873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccagctgctgtgtgcGctccagggaccggcgcatca	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:20074873G>A	ENST00000379651.3	-	4	427	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	MAP7D2_ENST00000379643.5_Missense_Mutation_p.R137C|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R93C|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R8C|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R137C	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	137										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TGCTGTGTGCGCTCCAGGGAC	0.557													False	0	False	X:20074873	0	A	20074873	G	A	20074873	3	1	88	1	0	0	0	0	1	0	0	0	9335	1087	38	1	1964	1	MAP7D2	23	20074873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	661621	20074873	135195687	20430	28142											
MAP7D2	256714	broad.mit.edu	37	chrX	20134917	20134917	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcaccgcgcccggttctgcGatcttccctgggagagaggt	14	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:20134917G>A	ENST00000379651.3	-	1	99	c.81C>T	c.(79-81)atC>atT	p.I27I	MAP7D2_ENST00000379643.5_Silent_p.I27I|MAP7D2_ENST00000443379.3_Silent_p.I27I	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	27										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CCGGTTCTGCGATCTTCCCTG	0.716													False	0	False	X:20134917	0	A	20134917	G	A	20134917	2	1	88	1	0	0	0	0	0	0	0	1	9335	1048	37	1		1	MAP7D2	23	20134917	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60044	20134917	135135643	20431	28143											
CNKSR2	22866	broad.mit.edu	37	chrX	21519642	21519642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttatattaaattcagtcacCtgcagatcggtgcaagaaaa	7	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21519642C>A	ENST00000425654.2	+	8	1226	c.746C>A	c.(745-747)cCt>cAt	p.P249H	CNKSR2_ENST00000543067.1_Missense_Mutation_p.P249H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P249H|CNKSR2_ENST00000379510.3_Missense_Mutation_p.P249H	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	249	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATTCAGTCACCTGCAGATCGG	0.348													False	0	False	X:21519642	0	A	21519642	C	A	21519642	3	1	88	1	0	0	0	0	1	0	0	0	3630	681	24	3	776	3	CNKSR2	23	21519642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1384725	21519642	133750918	20432	28144											
KLHL34	257240	broad.mit.edu	37	chrX	21674239	21674239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagcggtcgtagggcagCggccgcaaccgagtccactg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21674239C>T	ENST00000379499.2	-	1	2209	c.1668G>A	c.(1666-1668)ccG>ccA	p.P556P		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	556										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGTAGGGCAGCGGCCGCAACC	0.677													False	0	False	X:21674239	0	T	21674239	C	T	21674239	2	4	88	1	0	0	0	0	0	0	0	1	8437	755	27	1		1	KLHL34	23	21674239	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154597	21674239	133596321	20433	28145											
KLHL34	257240	broad.mit.edu	37	chrX	21675171	21675171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaggcccttgacccgggCgggcagcacgaggccagagc	17	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21675171C>T	ENST00000379499.2	-	1	1277	c.736G>A	c.(736-738)Gcc>Acc	p.A246T		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	246										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TTGACCCGGGCGGGCAGCACG	0.682													False	0	True	X:21675171	0	T	21675171	C	T	21675171	3	4	88	1	0	0	0	0	1	0	0	0	8437	768	27	1	1202	1	KLHL34	23	21675171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	932	21675171	133595389	20434	28146											
SMPX	23676	broad.mit.edu	37	chrX	21755811	21755811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatccgaggtgggaggaAcaccctgaagagcaaggaga	14	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21755811A>G	ENST00000379494.3	-	4	370	c.137T>C	c.(136-138)gTt>gCt	p.V46A	SMPX_ENST00000494525.1_5'UTR	NM_014332.2	NP_055147.1	Q9UHP9	SMPX_HUMAN	small muscle protein, X-linked	46					striated muscle contraction					breast(1)|endometrium(1)	2						GGTGGGAGGAACACCCTGAAG	0.408													False	0	False	X:21755811	0	G	21755811	A	G	21755811	3	3	88	1	0	0	0	0	1	0	0	0	14890	43	2	4	133	4	SMPX	23	21755811	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80640	21755811	133514749	20435	28147											
PHEX	5251	broad.mit.edu	37	chrX	22129647	22129647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattccaaaccttagcaggcGctttcagtatagatggctgg	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:22129647G>A	ENST00000379374.4	+	10	1707	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	PHEX_ENST00000418858.3_Missense_Mutation_p.R84H|PHEX_ENST00000535894.1_Missense_Mutation_p.R284H|PHEX_ENST00000537599.1_Missense_Mutation_p.R381H	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	381					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTTAGCAGGCGCTTTCAGTAT	0.383													False	0	False	X:22129647	0	A	22129647	G	A	22129647	3	1	88	1	0	0	0	0	1	0	0	0	11888	1087	38	1	1180	1	PHEX	23	22129647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	373836	22129647	133140913	20436	28148											
DDX53	168400	broad.mit.edu	37	chrX	23020059	23020059	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagacgcaaggagttttatTttttaagttgaaaagttgta	9	2	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:23020059T>G	ENST00000327968.5	+	1	1973	c.1885T>G	c.(1885-1887)Ttt>Gtt	p.F629V	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	629						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GGAGTTTTATTTTTTAAGTTG	0.358													False	0	True	X:23020059	0	G	23020059	T	G	23020059	3	3	88	1	0	0	0	0	1	0	0	0	4396	1841	64	4	1887	4	DDX53	23	23020059	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	890412	23020059	132250501	20437	28149											
PTCHD1	139411	broad.mit.edu	37	chrX	23398084	23398084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtcagactgtttcagaaatCcaacagcaaagtcaaaatgt	7	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:23398084C>A	ENST00000379361.4	+	2	1588	c.728C>A	c.(727-729)tCc>tAc	p.S243Y		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	243					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTCAGAAATCCAACAGCAAA	0.507													False	0	False	X:23398084	0	A	23398084	C	A	23398084	3	1	88	1	0	0	0	0	1	0	0	0	12808	855	30	3	734	3	PTCHD1	23	23398084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	378025	23398084	131872476	20438	28150											
ZFX	7543	broad.mit.edu	37	chrX	24190912	24190912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaactcattttttgatgCaacaggtataactacttgaa	6	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24190912C>T	ENST00000379177.1	+	5	480	c.53C>T	c.(52-54)gCa>gTa	p.A18V	ZFX_ENST00000338565.3_Missense_Mutation_p.A18V|ZFX_ENST00000379188.3_Missense_Mutation_p.A18V|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.A18V|ZFX_ENST00000304543.5_Missense_Mutation_p.A18V|ZFX_ENST00000539115.1_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTTTTTGATGCAACAGGTATA	0.383													False	0	False	X:24190912	0	T	24190912	C	T	24190912	3	4	88	1	0	0	0	0	1	0	0	0	17744	710	25	2	55	2	ZFX	23	24190912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	792828	24190912	131079648	20439	28151											
PCYT1B	9468	broad.mit.edu	37	chrX	24625913	24625913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttttgcttgcataagggCtcttgcatgacctgagtgga	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24625913C>T	ENST00000379145.1	-	3	273	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	PCYT1B_ENST00000356768.4_Missense_Mutation_p.A95T|PCYT1B_ENST00000379144.2_Missense_Mutation_p.A95T	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	95	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TGCATAAGGGCTCTTGCATGA	0.423													False	0	True	X:24625913	0	T	24625913	C	T	24625913	3	4	88	1	0	0	0	0	1	0	0	0	11679	797	28	2	887	2	PCYT1B	23	24625913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	435001	24625913	130644647	20440	28152											
POLA1	5422	broad.mit.edu	37	chrX	24732735	24732735	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagctcgcagtgacaaaaccGaacaacattaagtcaatgtt	7	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24732735G>A	ENST00000379068.3	+	5	454	c.411G>A	c.(409-411)ccG>ccA	p.P137P	POLA1_ENST00000379059.3_Silent_p.P131P			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	131					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TGACAAAACCGAACAACATTA	0.353													False	0	False	X:24732735	0	A	24732735	G	A	24732735	2	1	88	1	0	0	0	0	0	0	0	1	12256	1045	37	1		1	POLA1	23	24732735	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106822	24732735	130537825	20441	28153											
MAGEB6	158809	broad.mit.edu	37	chrX	26212149	26212149	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgatgcctccattcctcaGgagtctcagggagtgtcacc	10	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:26212149G>T	ENST00000379034.1	+	2	335	c.186G>T	c.(184-186)caG>caT	p.Q62H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	62	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCATTCCTCAGGAGTCTCAGG	0.522													False	0	False	X:26212149	0	T	26212149	G	T	26212149	3	4	88	1	0	0	0	0	1	0	0	0	9246	991	35	3	188	3	MAGEB6	23	26212149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1479414	26212149	129058411	20442	28154											
MAGEB6	158809	broad.mit.edu	37	chrX	26212833	26212833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcgggtctcctgatgtcGctcctggttgtgatcttcat	11	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:26212833G>A	ENST00000379034.1	+	2	1019	c.870G>A	c.(868-870)tcG>tcA	p.S290S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	290	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCCTGATGTCGCTCCTGGTTG	0.547													False	0	False	X:26212833	0	A	26212833	G	A	26212833	2	1	88	1	0	0	0	0	0	0	0	1	9246	1074	38	1		1	MAGEB6	23	26212833	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	684	26212833	129057727	20443	28155											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998727	27998727	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaacttagcctggatgAcattaatatcgtgaccactc	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:27998727A>G	ENST00000441525.1	-	1	839	c.725T>C	c.(724-726)gTc>gCc	p.V242A		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	242								p.V242G(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGCCTGGATGACATTAATATC	0.488													False	0	False	X:27998727	0	G	27998727	A	G	27998727	3	3	88	1	0	0	0	0	1	0	0	0	4302	275	10	4	1081	4	DCAF8L1	23	27998727	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1785894	27998727	127271833	20444	28156											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29935582	29935582	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcacttctctctgcaggTgactctgctaatctaacctg	6	14	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:29935582T>C	ENST00000378993.1	+	7	1453	c.780T>C	c.(778-780)ggT>ggC	p.G260G	IL1RAPL1_ENST00000302196.4_Splice_Site_p.G260G	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	260	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TCTCTGCAGGTGACTCTGCTA	0.358													False	0	False	X:29935582	0	C	29935582	T	C	29935582	5	2	88	1	0	0	0	0	0	0	1	0	7711	1710	59	4	802	4	IL1RAPL1	23	29935582	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1936855	29935582	125334978	20445	28157											
MAGEB4	4115	broad.mit.edu	37	chrX	30261225	30261225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagagttgcagccaggCgtggcactacagccatgact	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30261225C>T	ENST00000378982.2	+	1	1169	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	325										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGCAGCCAGGCGTGGCACTAC	0.517													False	0	False	X:30261225	0	T	30261225	C	T	30261225	3	4	88	1	0	0	0	0	1	0	0	0	9245	768	27	1	975	1	MAGEB4	23	30261225	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325643	30261225	125009335	20446	28158											
NR0B1	190	broad.mit.edu	37	chrX	30327309	30327309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaggagcgccacgttccGcccgcccagcagcccctctc	10	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30327309G>A	ENST00000378970.4	-	1	406	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	NR0B1_ENST00000453287.1_Missense_Mutation_p.R58W	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	58	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCCACGTTCCGCCCGCCCAGC	0.662													False	0	True	X:30327309	0	A	30327309	G	A	30327309	3	1	88	1	0	0	0	0	1	0	0	0	10681	1086	38	1	1248	1	NR0B1	23	30327309	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66084	30327309	124943251	20447	28159											
CXorf21	80231	broad.mit.edu	37	chrX	30577645	30577645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcagttgacatcaattgCaataggcggctaaagactat	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30577645C>T	ENST00000378962.3	-	3	1150	c.828G>A	c.(826-828)ttG>ttA	p.L276L		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	276										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ACATCAATTGCAATAGGCGGC	0.388													False	0	False	X:30577645	0	T	30577645	C	T	30577645	2	4	88	1	0	0	0	0	0	0	0	1	4126	709	25	2		2	CXorf21	23	30577645	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250336	30577645	124692915	20448	28160											
GK	2710	broad.mit.edu	37	chrX	30686168	30686168	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggaaattctacattctgtCtatgagtgtatagagaaaac	8	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30686168C>T	ENST00000378943.3	+	3	371	c.192C>T	c.(190-192)gtC>gtT	p.V64V	GK_ENST00000378946.3_Silent_p.V64V|GK_ENST00000378945.3_Silent_p.V64V|GK_ENST00000427190.1_5'UTR|GK_ENST00000378941.3_Silent_p.V64V	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	64					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						TACATTCTGTCTATGAGTGTA	0.313													False	0	False	X:30686168	0	T	30686168	C	T	30686168	2	4	88	1	0	0	0	0	0	0	0	1	6465	900	32	2		2	GK	23	30686168	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108523	30686168	124584392	20449	28161											
TAB3	257397	broad.mit.edu	37	chrX	30872954	30872954	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgggagaatactgagaaggCtgatagttctgttggtgtgg	16	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30872954C>A	ENST00000378933.1	-	3	1005	c.828G>T	c.(826-828)caG>caT	p.Q276H	TAB3_ENST00000378930.3_Missense_Mutation_p.Q276H|TAB3_ENST00000378932.2_Missense_Mutation_p.Q276H|TAB3_ENST00000288422.2_Missense_Mutation_p.Q276H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	276	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACTGAGAAGGCTGATAGTTCT	0.522													False	0	False	X:30872954	0	A	30872954	C	A	30872954	3	1	88	1	0	0	0	0	1	0	0	0	15579	796	28	3	1334	3	TAB3	23	30872954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186786	30872954	124397606	20450	28162											
FTHL17	53940	broad.mit.edu	37	chrX	31089968	31089968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagaaggccatagacaggtAcaggtaggaggtgtagagct	16	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:31089968A>G	ENST00000359202.3	-	1	202	c.103T>C	c.(103-105)Tac>Cac	p.Y35H		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	35	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.Y35N(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						ATAGACAGGTACAGGTAGGAG	0.607													False	0	True	X:31089968	0	G	31089968	A	G	31089968	3	3	88	1	0	0	0	0	1	0	0	0	6125	391	14	4	452	4	FTHL17	23	31089968	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	217014	31089968	124180592	20451	28163											
DMD	1756	broad.mit.edu	37	chrX	31525440	31525440	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagttcactccacttgaagTtcatgttatccaaacgtctt	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:31525440T>G	ENST00000357033.4	-	56	8554	c.8348A>C	c.(8347-8349)aAc>aCc	p.N2783T	DMD_ENST00000378707.3_Missense_Mutation_p.N323T|DMD_ENST00000378677.2_Missense_Mutation_p.N2779T|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000359836.1_Missense_Mutation_p.N323T|DMD_ENST00000343523.2_Missense_Mutation_p.N323T|DMD_ENST00000541735.1_Missense_Mutation_p.N323T|DMD_ENST00000474231.1_Missense_Mutation_p.N323T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2783					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCACTTGAAGTTCATGTTATC	0.398													False	0	False	X:31525440	0	G	31525440	T	G	31525440	3	3	88	1	0	0	0	0	1	0	0	0	4610	1725	60	4	2919	4	DMD	23	31525440	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	435472	31525440	123745120	20452	28164											
DMD	1756	broad.mit.edu	37	chrX	32827617	32827617	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttaccaaccttcaggAtcgagtagtttctctatgcc	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32827617A>G	ENST00000357033.4	-	7	848	c.642T>C	c.(640-642)gaT>gaC	p.D214D	DMD_ENST00000378677.2_Silent_p.D210D|DMD_ENST00000288447.4_Silent_p.D206D	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	214	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACCTTCAGGATCGAGTAGTT	0.393													False	0	False	X:32827617	0	G	32827617	A	G	32827617	2	3	88	1	0	0	0	0	0	0	0	1	4610	330	12	4		4	DMD	23	32827617	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1302177	32827617	122442943	20453	28165											
DMD	1756	broad.mit.edu	37	chrX	32834629	32834629	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagccaggccatcagaccaGctggtggtgaagttgattac	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32834629G>T	ENST00000357033.4	-	6	692	c.486C>A	c.(484-486)agC>agA	p.S162R	DMD_ENST00000378677.2_Missense_Mutation_p.S158R|DMD_ENST00000288447.4_Missense_Mutation_p.S154R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	162	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CATCAGACCAGCTGGTGGTGA	0.408													False	0	False	X:32834629	0	T	32834629	G	T	32834629	3	4	88	1	0	0	0	0	1	0	0	0	4610	962	34	3	11110	3	DMD	23	32834629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7012	32834629	122435931	20454	28166											
DMD	1756	broad.mit.edu	37	chrX	32841471	32841471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtttatgatttccatctaCgatgtcagtacttccaatat	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32841471C>T	ENST00000357033.4	-	5	504	c.298G>A	c.(298-300)Gta>Ata	p.V100I	DMD_ENST00000378677.2_Missense_Mutation_p.V96I|DMD_ENST00000288447.4_Missense_Mutation_p.V92I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	100	Actin-binding.|CH 1.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCCATCTACGATGTCAGTA	0.343													False	0	False	X:32841471	0	T	32841471	C	T	32841471	3	4	88	1	0	0	0	0	1	0	0	0	4610	536	19	1	11302	1	DMD	23	32841471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6842	32841471	122429089	20455	28167											
FAM47B	170062	broad.mit.edu	37	chrX	34961295	34961295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacagccagcacggaaggCgttcgtagaggaagtggaag	16	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:34961295C>T	ENST00000329357.5	+	1	383	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	116										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCACGGAAGGCGTTCGTAGAG	0.542													False	0	False	X:34961295	0	T	34961295	C	T	34961295	3	4	88	1	0	0	0	0	1	0	0	0	5610	768	27	1	349	1	FAM47B	23	34961295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2119824	34961295	120309265	20456	28168											
FAM47B	170062	broad.mit.edu	37	chrX	34961432	34961432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagaggaagctggaggacGcttgggctcgttgtgaggcc	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:34961432G>A	ENST00000329357.5	+	1	520	c.484G>A	c.(484-486)Gct>Act	p.A162T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	162										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCTGGAGGACGCTTGGGCTCG	0.587													False	0	False	X:34961432	0	A	34961432	G	A	34961432	3	1	88	1	0	0	0	0	1	0	0	0	5610	1087	38	1	486	1	FAM47B	23	34961432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137	34961432	120309128	20457	28169											
MAGEB16	139604	broad.mit.edu	37	chrX	35820491	35820491	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgctgctaaggcagagAgtcctcttgaggttcctcag	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35820491A>C	ENST00000399989.1	+	2	457	c.178A>C	c.(178-180)Agt>Cgt	p.S60R	MAGEB16_ENST00000399992.1_Missense_Mutation_p.S92R|MAGEB16_ENST00000399988.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399987.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399985.1_Missense_Mutation_p.S60R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	60										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAGGCAGAGAGTCCTCTTGA	0.532													False	0	True	X:35820491	0	C	35820491	A	C	35820491	3	2	88	1	0	0	0	0	1	0	0	0	9241	304	11	4	180	4	MAGEB16	23	35820491	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	859059	35820491	119450069	20458	28170											
MAGEB16	139604	broad.mit.edu	37	chrX	35820969	35820969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcatgaagggcaaccGtgccactgaagaggaagtct	12	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35820969G>A	ENST00000399989.1	+	2	935	c.656G>A	c.(655-657)cGt>cAt	p.R219H	MAGEB16_ENST00000399992.1_Missense_Mutation_p.R251H|MAGEB16_ENST00000399988.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399987.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399985.1_Missense_Mutation_p.R219H	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	219	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGGGCAACCGTGCCACTGAA	0.507													False	0	False	X:35820969	0	A	35820969	G	A	35820969	3	1	88	1	0	0	0	0	1	0	0	0	9241	1145	40	1	658	1	MAGEB16	23	35820969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478	35820969	119449591	20459	28171											
CXorf22	170063	broad.mit.edu	37	chrX	35969425	35969425	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatacaataatagcccagaGcccataaattgggtggccat	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35969425G>T	ENST00000297866.5	+	5	900	c.834G>T	c.(832-834)gaG>gaT	p.E278D		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	278										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATAGCCCAGAGCCCATAAATT	0.413													False	0	True	X:35969425	0	T	35969425	G	T	35969425	3	4	88	1	0	0	0	0	1	0	0	0	4127	962	34	3	852	3	CXorf22	23	35969425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148456	35969425	119301135	20460	28172											
CXorf22	170063	broad.mit.edu	37	chrX	35989849	35989849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcgattgttaaccaccaGgggtatagcatctcaggagg	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35989849G>A	ENST00000297866.5	+	12	2183	c.2117G>A	c.(2116-2118)aGg>aAg	p.R706K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	706										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTAACCACCAGGGGTATAGCA	0.423													False	0	True	X:35989849	0	A	35989849	G	A	35989849	3	1	88	1	0	0	0	0	1	0	0	0	4127	1000	35	2	2163	2	CXorf22	23	35989849	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20424	35989849	119280711	20461	28173											
CXorf22	170063	broad.mit.edu	37	chrX	35993429	35993429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgattctacctacatccaGtacttatatttcaatggtat	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35993429G>A	ENST00000297866.5	+	14	2486	c.2420G>A	c.(2419-2421)aGt>aAt	p.S807N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	807										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CCTACATCCAGTACTTATATT	0.333													False	0	False	X:35993429	0	A	35993429	G	A	35993429	3	1	88	1	0	0	0	0	1	0	0	0	4127	1029	36	2	2474	2	CXorf22	23	35993429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3580	35993429	119277131	20462	28174											
FAM47C	442444	broad.mit.edu	37	chrX	37028071	37028071	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcccagagcctcccaagattCtggtgtccagtctccaccag	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37028071C>T	ENST00000358047.3	+	1	1640	c.1588C>T	c.(1588-1590)Ctg>Ttg	p.L530L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	530										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCAAGATTCTGGTGTCCAG	0.617													False	0	False	X:37028071	0	T	37028071	C	T	37028071	2	4	88	1	0	0	0	0	0	0	0	1	5611	912	32	2		2	FAM47C	23	37028071	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1034642	37028071	118242489	20463	28175											
SYTL5	94122	broad.mit.edu	37	chrX	37932929	37932929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgggaagaaggccagcCatgatgggcccaagagaaag	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37932929C>T	ENST00000357972.5	+	5	1078	c.532C>T	c.(532-534)Cat>Tat	p.H178Y	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.H178Y|SYTL5_ENST00000456733.2_Missense_Mutation_p.H178Y			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	178					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GAAGGCCAGCCATGATGGGCC	0.448													False	0	True	X:37932929	0	T	37932929	C	T	37932929	3	4	88	1	0	0	0	0	1	0	0	0	15568	594	21	2	546	2	SYTL5	23	37932929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	904858	37932929	117337631	20464	28176											
SYTL5	94122	broad.mit.edu	37	chrX	37969635	37969635	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctcagtctggcactatgAtcgatttggacgtaatagct	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37969635A>C	ENST00000357972.5	+	13	2042	c.1496A>C	c.(1495-1497)gAt>gCt	p.D499A	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.D499A|SYTL5_ENST00000456733.2_Missense_Mutation_p.D521A			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	499	C2 1.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGGCACTATGATCGATTTGGA	0.448													False	0	False	X:37969635	0	C	37969635	A	C	37969635	3	2	88	1	0	0	0	0	1	0	0	0	15568	333	12	4	1612	4	SYTL5	23	37969635	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36706	37969635	117300925	20465	28177											
SRPX	8406	broad.mit.edu	37	chrX	38020292	38020292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttggagcctggggggagGccttttagaatgacacttag	15	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:38020292G>A	ENST00000378533.3	-	6	775	c.669C>T	c.(667-669)ggC>ggT	p.G223G	SRPX_ENST00000432886.2_Silent_p.G164G|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Silent_p.G210G|SRPX_ENST00000538295.1_Silent_p.G223G|SRPX_ENST00000544439.1_Silent_p.G203G	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	223	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CTGGGGGGAGGCCTTTTAGAA	0.438													False	0	False	X:38020292	0	A	38020292	G	A	38020292	2	1	88	1	0	0	0	0	0	0	0	1	15246	1190	42	2		2	SRPX	23	38020292	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50657	38020292	117250268	20466	28178											
MID1IP1	58526	broad.mit.edu	37	chrX	38664233	38664233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacacctacaaccagaagCactcgctctttaacgccatg	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:38664233C>T	ENST00000336949.6	+	2	979	c.34C>T	c.(34-36)Cac>Tac	p.H12Y	MID1IP1_ENST00000378474.3_Missense_Mutation_p.H12Y|MID1IP1_ENST00000457894.1_Missense_Mutation_p.H12Y	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	12					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CAACCAGAAGCACTCGCTCTT	0.627													False	0	False	X:38664233	0	T	38664233	C	T	38664233	3	4	88	1	0	0	0	0	1	0	0	0	9644	710	25	2	36	2	MID1IP1	23	38664233	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	643941	38664233	116606327	20467	28179											
BCOR	54880	broad.mit.edu	37	chrX	39931785	39931785	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagctccatctttggtataGgtgggggtcacatccacact	10	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:39931785G>T	ENST00000342274.4	-	4	3176	c.2814C>A	c.(2812-2814)acC>acA	p.T938T	BCOR_ENST00000378444.4_Silent_p.T938T|BCOR_ENST00000397354.3_Silent_p.T938T|BCOR_ENST00000378455.4_Silent_p.T938T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	938					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.Y939fs*7(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTTGGTATAGGTGGGGGTCA	0.507			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						False	0	False	X:39931785	0	T	39931785	G	T	39931785	2	4	88	1	0	0	0	0	0	0	0	1	1390	987	35	3		3	BCOR	23	39931785	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1267552	39931785	115338775	20468	28180											
BCOR	54880	broad.mit.edu	37	chrX	39937186	39937186	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggttgctgagagcatgtcGtcttctgggatggcagcttt	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:39937186G>A	ENST00000342274.4	-	0	359				BCOR_ENST00000378444.4_De_novo_Start_OutOfFrame|BCOR_ENST00000397354.3_De_novo_Start_OutOfFrame|BCOR_ENST00000378455.4_De_novo_Start_OutOfFrame	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor						heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGAGCATGTCGTCTTCTGGGA	0.532			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						False	0	False	X:39937186	0	A	39937186	G	A	39937186	1	1	88	1	0	0	0	0	0	0	0	0	1390	1160	40	1		1	BCOR	23	39937186	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5401	39937186	115333374	20469	28181											
MED14	9282	broad.mit.edu	37	chrX	40522271	40522271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtaactacctgccaggCcgggcacaaggcctggagtt	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:40522271C>T	ENST00000324817.1	-	26	3708	c.3590G>A	c.(3589-3591)gGc>gAc	p.G1197D		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1197					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCTGCCAGGCCGGGCACAAG	0.498													False	0	False	X:40522271	0	T	40522271	C	T	40522271	3	4	88	1	0	0	0	0	1	0	0	0	9499	739	26	2	798	2	MED14	23	40522271	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	585085	40522271	114748289	20470	28182											
MED14	9282	broad.mit.edu	37	chrX	40586068	40586068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatcgaacgaagagttggCgtgtccggctagcaaactgc	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:40586068C>T	ENST00000324817.1	-	3	396	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	93					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAGAGTTGGCGTGTCCGGCT	0.323													False	0	False	X:40586068	0	T	40586068	C	T	40586068	3	4	88	1	0	0	0	0	1	0	0	0	9499	768	27	1	4202	1	MED14	23	40586068	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63797	40586068	114684492	20471	28183											
USP9X	8239	broad.mit.edu	37	chrX	41000309	41000309	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggttccacagtttttagaAaacttaactgatgaagaact	7	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41000309A>G	ENST00000324545.8	+	8	1494	c.861A>G	c.(859-861)gaA>gaG	p.E287E	USP9X_ENST00000378308.2_Silent_p.E287E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGTTTTTAGAAAACTTAACTG	0.318													False	0	True	X:41000309	0	G	41000309	A	G	41000309	2	3	88	1	0	0	0	0	0	0	0	1	17174	11	1	4		4	USP9X	23	41000309	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	414241	41000309	114270251	20472	28184											
USP9X	8239	broad.mit.edu	37	chrX	41031200	41031200	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaagagtacttatgaaacTtatgccgccaggtaagaatt	9	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41031200T>G	ENST00000324545.8	+	21	3770	c.3137T>G	c.(3136-3138)cTt>cGt	p.L1046R	USP9X_ENST00000378308.2_Missense_Mutation_p.L1046R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTTATGAAACTTATGCCGCCA	0.393													False	0	False	X:41031200	0	G	41031200	T	G	41031200	3	3	88	1	0	0	0	0	1	0	0	0	17174	1609	56	4	3215	4	USP9X	23	41031200	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30891	41031200	114239360	20473	28185											
USP9X	8239	broad.mit.edu	37	chrX	41075627	41075627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgatcacatgatgaagcGtatgtcatacaggcgccaga	11	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41075627G>A	ENST00000324545.8	+	35	6440	c.5807G>A	c.(5806-5808)cGt>cAt	p.R1936H	USP9X_ENST00000378308.2_Missense_Mutation_p.R1936H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGATGAAGCGTATGTCATAC	0.373													False	0	False	X:41075627	0	A	41075627	G	A	41075627	3	1	88	1	0	0	0	0	1	0	0	0	17174	1145	40	1	5941	1	USP9X	23	41075627	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44427	41075627	114194933	20474	28186											
DDX3X	1654	broad.mit.edu	37	chrX	41204512	41204512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagaatagtcgaacaagatActatgcctccaaagggtgtc	10	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41204512A>G	ENST00000399959.2	+	11	1960	c.1105A>G	c.(1105-1107)Act>Gct	p.T369A	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.T353A|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	369	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CGAACAAGATACTATGCCTCC	0.378										HNSCC(61;0.18)			False	0	False	X:41204512	0	G	41204512	A	G	41204512	3	3	88	1	0	0	0	0	1	0	0	0	4383	391	14	4	1147	4	DDX3X	23	41204512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	128885	41204512	114066048	20475	28187											
NYX	60506	broad.mit.edu	37	chrX	41333654	41333654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggcaaccgcctcaccgtGctcgcctgggtcgccttcca	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41333654G>A	ENST00000342595.2	+	2	1404	c.948G>A	c.(946-948)gtG>gtA	p.V316V	NYX_ENST00000378220.1_Silent_p.V316V	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	316					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GCCTCACCGTGCTCGCCTGGG	0.667													False	0	False	X:41333654	0	A	41333654	G	A	41333654	2	1	88	1	0	0	0	0	0	0	0	1	10865	1306	46	2		2	NYX	23	41333654	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129142	41333654	113936906	20476	28188											
CASK	8573	broad.mit.edu	37	chrX	41437686	41437686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagcactttctggagaatcGccgtttaaatagggagaggt	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41437686G>A	ENST00000318588.9	-	15	1455	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G	CASK_ENST00000378154.1_Silent_p.G470G|CASK_ENST00000378158.1_Silent_p.G470G|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000361962.4_Silent_p.G470G|CASK_ENST00000442742.2_Silent_p.G470G|CASK_ENST00000421587.2_Silent_p.G464G|CASK_ENST00000378166.4_Silent_p.G470G|CASK_ENST00000378163.1_Silent_p.G470G			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	470					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CTGGAGAATCGCCGTTTAAAT	0.463													False	0	False	X:41437686	0	A	41437686	G	A	41437686	2	1	88	1	0	0	0	0	0	0	0	1	2685	1074	38	1		1	CASK	23	41437686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104032	41437686	113832874	20477	28189											
NDP	4693	broad.mit.edu	37	chrX	43817734	43817734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacctttgagctacacttgTacaatgggtgactgatagaa	9	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:43817734T>C	ENST00000378062.5	-	2	565	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	NDP_ENST00000470584.1_Intron|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	53	CTCK.				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity			kidney(1)|lung(2)	3						GCTACACTTGTACAATGGGTG	0.473													False	0	False	X:43817734	0	C	43817734	T	C	43817734	3	2	88	1	0	0	0	0	1	0	0	0	10318	1638	57	4	251	4	NDP	23	43817734	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2380048	43817734	111452826	20478	28190											
CXorf36	79742	broad.mit.edu	37	chrX	45059910	45059910	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcatttatcaagaccgagGaaagtccttccaaaattgta	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:45059910G>A	ENST00000398000.2	-	1	236	c.162C>T	c.(160-162)ttC>ttT	p.F54F	RP11-342D14.1_ENST00000438181.1_RNA|RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Silent_p.F54F	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	54						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						CAAGACCGAGGAAAGTCCTTC	0.428													False	0	True	X:45059910	0	A	45059910	G	A	45059910	2	1	88	1	0	0	0	0	0	0	0	1	4131	1165	41	2		2	CXorf36	23	45059910	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1242176	45059910	110210650	20479	28191											
SLC9A7	84679	broad.mit.edu	37	chrX	46480434	46480434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgatcaaagctgtaccacaGcctgaatatccatgcgctct	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:46480434G>T	ENST00000328306.4	-	15	1823	c.1798C>A	c.(1798-1800)Ctg>Atg	p.L600M	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	600					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CTGTACCACAGCCTGAATATC	0.463													False	0	False	X:46480434	0	T	46480434	G	T	46480434	3	4	88	1	0	0	0	0	1	0	0	0	14799	962	34	3	391	3	SLC9A7	23	46480434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1420524	46480434	108790126	20480	28192											
RBM10	8241	broad.mit.edu	37	chrX	47039844	47039844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccaatgaaggcagtcGcatcagtgctgcctctgtgg	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47039844G>A	ENST00000377604.3	+	12	1929	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	RBM10_ENST00000329236.7_Missense_Mutation_p.R318H|RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000345781.6_Missense_Mutation_p.R319H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	396			R -> H (in a colorectal cancer sample; somatic mutation).		mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.R396H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GAAGGCAGTCGCATCAGTGCT	0.627													False	0	False	X:47039844	0	A	47039844	G	A	47039844	3	1	88	1	0	0	0	0	1	0	0	0	13190	1087	38	1	1229	1	RBM10	23	47039844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	559410	47039844	108230716	20481	28193											
UBA1	7317	broad.mit.edu	37	chrX	47058959	47058959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagctcaacagctatgtGcctgtcactgcctacactgg	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47058959G>A	ENST00000335972.6	+	5	609	c.426G>A	c.(424-426)gtG>gtA	p.V142V	UBA1_ENST00000377351.4_Silent_p.V142V	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	142	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACAGCTATGTGCCTGTCACTG	0.567													False	0	False	X:47058959	0	A	47058959	G	A	47058959	2	1	88	1	0	0	0	0	0	0	0	1	16911	1306	46	2		2	UBA1	23	47058959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19115	47058959	108211601	20482	28194											
UBA1	7317	broad.mit.edu	37	chrX	47065399	47065399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgccaaatgaatccacataTccgggtgacaagccaccaga	9	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47065399T>C	ENST00000335972.6	+	15	1811	c.1628T>C	c.(1627-1629)aTc>aCc	p.I543T	UBA1_ENST00000490869.1_Intron|UBA1_ENST00000377351.4_Missense_Mutation_p.I543T	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	543	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATCCACATATCCGGGTGACA	0.522													False	0	False	X:47065399	0	C	47065399	T	C	47065399	3	2	88	1	0	0	0	0	1	0	0	0	16911	1435	50	4	1682	4	UBA1	23	47065399	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6440	47065399	108205161	20483	28195											
USP11	8237	broad.mit.edu	37	chrX	47103898	47103898	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctgctctgttgcagaCgctacgtgaccaaacccaac	7	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103898C>T	ENST00000377107.2	+	14	2146	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	USP11_ENST00000218348.3_Splice_Site_p.R641C			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	641					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTGTTGCAGACGCTACGTGAC	0.542													False	0	False	X:47103898	0	T	47103898	C	T	47103898	5	4	88	1	0	0	0	0	0	0	1	0	17126	550	19	1	1975	1	USP11	23	47103898	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38499	47103898	108166662	20484	28196											
USP11	8237	broad.mit.edu	37	chrX	47103933	47103933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaactcagatgatgaggaCgatggggatgagaaaggtga	15	6	1	5	rs143527670		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103933C>A	ENST00000377107.2	+	14	2181	c.1827C>A	c.(1825-1827)gaC>gaA	p.D609E	USP11_ENST00000218348.3_Missense_Mutation_p.D652E			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	652					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ATGATGAGGACGATGGGGATG	0.567													False	0	False	X:47103933	0	A	47103933	C	A	47103933	3	1	88	1	0	0	0	0	1	0	0	0	17126	535	19	3	2010	3	USP11	23	47103933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	47103933	108166627	20485	28197											
ZNF41	7592	broad.mit.edu	37	chrX	47307548	47307548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtgtgagttttctggtGtttaatgagatttgactggt	12	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47307548G>A	ENST00000377065.4	-	5	2260	c.1621C>T	c.(1621-1623)Cac>Tac	p.H541Y	ZNF41_ENST00000313116.7_Missense_Mutation_p.H541Y|ZNF41_ENST00000397050.2_Missense_Mutation_p.H551Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	583						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GTTTTCTGGTGTTTAATGAGA	0.413													False	0	True	X:47307548	0	A	47307548	G	A	47307548	3	1	88	1	0	0	0	0	1	0	0	0	17972	1377	48	2	722	2	ZNF41	23	47307548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203615	47307548	107963012	20486	28198											
ZNF41	7592	broad.mit.edu	37	chrX	47307946	47307946	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgcattcatagtgtttcTctccggtatgagttttctga	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47307946T>G	ENST00000377065.4	-	5	1862	c.1223A>C	c.(1222-1224)gAg>gCg	p.E408A	ZNF41_ENST00000313116.7_Missense_Mutation_p.E408A|ZNF41_ENST00000397050.2_Missense_Mutation_p.E418A	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	450						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATAGTGTTTCTCTCCGGTATG	0.418													False	0	True	X:47307946	0	G	47307946	T	G	47307946	3	3	88	1	0	0	0	0	1	0	0	0	17972	1551	54	4	1120	4	ZNF41	23	47307946	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	398	47307946	107962614	20487	28199											
ARAF	369	broad.mit.edu	37	chrX	47429401	47429401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggctcactgccttacaGccacattggctgccgtgacc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47429401G>A	ENST00000377045.4	+	14	1723	c.1529G>A	c.(1528-1530)aGc>aAc	p.S510N	ARAF_ENST00000470206.1_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	510	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CTGCCTTACAGCCACATTGGC	0.587													False	0	False	X:47429401	0	A	47429401	G	A	47429401	3	1	88	1	0	0	0	0	1	0	0	0	839	971	34	2	1579	2	ARAF	23	47429401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121455	47429401	107841159	20488	28200											
CFP	5199	broad.mit.edu	37	chrX	47487033	47487033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccagccagaccagccGcccatctctgtgggagagaa	12	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47487033G>A	ENST00000247153.3	-	5	652	c.411C>T	c.(409-411)ggC>ggT	p.G137G	CFP_ENST00000396992.3_Silent_p.G137G|CFP_ENST00000377005.2_Silent_p.G137G	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	137	TSP type-1 2.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CAGACCAGCCGCCCATCTCTG	0.612													False	0	True	X:47487033	0	A	47487033	G	A	47487033	2	1	88	1	0	0	0	0	0	0	0	1	3316	1074	38	1		1	CFP	23	47487033	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57632	47487033	107783527	20489	28201											
ZNF81	347344	broad.mit.edu	37	chrX	47775190	47775190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatcagacaactcatactgGagaaaaactctttgaatgca	7	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47775190G>A	ENST00000376954.1	+	6	1513	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	ZNF81_ENST00000338637.7_Missense_Mutation_p.G382E			P51508	ZNF81_HUMAN	zinc finger protein 81	382						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCATACTGGAGAAAAACTC	0.398													False	0	False	X:47775190	0	A	47775190	G	A	47775190	3	1	88	1	0	0	0	0	1	0	0	0	18256	1174	41	2	1159	2	ZNF81	23	47775190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288157	47775190	107495370	20490	28202											
SLC38A5	92745	broad.mit.edu	37	chrX	48317422	48317422	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactccaaagcacagggccTgtgggccagagagacaagat	14	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48317422T>C	ENST00000376876.3	-	16	2161		c.e16-2		SLC38A5_ENST00000317669.5_Splice_Site|SLC38A5_ENST00000376875.1_Splice_Site			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5						cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GCACAGGGCCTGTGGGCCAGA	0.567													False	0	False	X:48317422	0	C	48317422	T	C	48317422	5	2	88	1	0	0	0	0	0	0	1	0	14687	1594	55	4	106	4	SLC38A5	23	48317422	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	542232	48317422	106953138	20491	28203											
FTSJ1	24140	broad.mit.edu	37	chrX	48339583	48339583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatatgcaggcccagctcCtcctagctgtgagtaaccct	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48339583C>T	ENST00000019019.2	+	7	835	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F	FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000348411.2_Missense_Mutation_p.L136F|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000456787.1_Missense_Mutation_p.L136F	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	136					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGCCCAGCTCCTCCTAGCTGT	0.592													False	0	False	X:48339583	0	T	48339583	C	T	48339583	3	4	88	1	0	0	0	0	1	0	0	0	6129	681	24	2	424	2	FTSJ1	23	48339583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22161	48339583	106930977	20492	28204											
FTSJ1	24140	broad.mit.edu	37	chrX	48340860	48340860	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacctgtggggacctgaGctcctatgattcggaccgca	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48340860G>T	ENST00000019019.2	+	11	1148	c.719G>T	c.(718-720)aGc>aTc	p.S240I	FTSJ1_ENST00000396894.4_Missense_Mutation_p.S105I|FTSJ1_ENST00000348411.2_Missense_Mutation_p.S242I|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S240I	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	242					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGGGACCTGAGCTCCTATGAT	0.562													False	0	False	X:48340860	0	T	48340860	G	T	48340860	3	4	88	1	0	0	0	0	1	0	0	0	6129	971	34	3	759	3	FTSJ1	23	48340860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1277	48340860	106929700	20493	28205											
PORCN	64840	broad.mit.edu	37	chrX	48370880	48370880	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagctacctacaagctgtCcaaggccgcccactggtgag	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48370880C>T	ENST00000367574.4	+	5	832	c.327C>T	c.(325-327)gtC>gtT	p.V109V	PORCN_ENST00000326194.6_Silent_p.V180V|PORCN_ENST00000359882.4_Silent_p.V180V|PORCN_ENST00000537758.1_Silent_p.V180V|PORCN_ENST00000355961.4_Silent_p.V180V|PORCN_ENST00000361988.3_Silent_p.V180V|PORCN_ENST00000355092.3_Silent_p.V180V	NM_001282167.1	NP_001269096.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	180					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACAAGCTGTCCAAGGCCGCC	0.612													False	0	False	X:48370880	0	T	48370880	C	T	48370880	2	4	88	1	0	0	0	0	0	0	0	1	12327	842	30	2		2	PORCN	23	48370880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30020	48370880	106899680	20494	28206											
TBC1D25	4943	broad.mit.edu	37	chrX	48418517	48418517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacctcttcttctgttaCcgctggctgctgctggaact	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48418517C>T	ENST00000376771.4	+	6	1562	c.1221C>T	c.(1219-1221)taC>taT	p.Y407Y	TBC1D25_ENST00000537536.1_Silent_p.Y153Y	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	407	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCTTCTGTTACCGCTGGCTGC	0.557													False	0	False	X:48418517	0	T	48418517	C	T	48418517	2	4	88	1	0	0	0	0	0	0	0	1	15697	518	18	2		2	TBC1D25	23	48418517	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47637	48418517	106852043	20495	28207											
TBC1D25	4943	broad.mit.edu	37	chrX	48419054	48419054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatcccccttgatgcaagaGgtaggctccccgaaagaccc	11	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48419054G>T	ENST00000376771.4	+	6	2099	c.1758G>T	c.(1756-1758)gaG>gaT	p.E586D	TBC1D25_ENST00000537536.1_Missense_Mutation_p.E332D	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	586						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGATGCAAGAGGTAGGCTCCC	0.597													False	0	False	X:48419054	0	T	48419054	G	T	48419054	3	4	88	1	0	0	0	0	1	0	0	0	15697	991	35	3	1780	3	TBC1D25	23	48419054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	537	48419054	106851506	20496	28208											
HDAC6	10013	broad.mit.edu	37	chrX	48674663	48674663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacagaggctgagctgCtcacctgtcacaggtcagac	11	14	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48674663C>T	ENST00000334136.5	+	18	1787	c.1609C>T	c.(1609-1611)Ctc>Ttc	p.L537F	HDAC6_ENST00000444343.2_Missense_Mutation_p.L551F|HDAC6_ENST00000376619.2_Missense_Mutation_p.L537F			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	537	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGCTGAGCTGCTCACCTGTCA	0.662													False	0	False	X:48674663	0	T	48674663	C	T	48674663	3	4	88	1	0	0	0	0	1	0	0	0	7058	797	28	2	1675	2	HDAC6	23	48674663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255609	48674663	106595897	20497	28209											
SLC35A2	7355	broad.mit.edu	37	chrX	48767103	48767103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgtacccctcttctgtgCgaagagcagcagcaggcagg	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48767103C>T	ENST00000376521.1	-	2	583	c.262G>A	c.(262-264)Gca>Aca	p.A88T	SLC35A2_ENST00000247138.5_Missense_Mutation_p.A88T|SLC35A2_ENST00000413561.2_Intron|SLC35A2_ENST00000445167.2_Missense_Mutation_p.A88T|SLC35A2_ENST00000452555.2_Missense_Mutation_p.A116T|SLC35A2_ENST00000376515.3_Missense_Mutation_p.A64T|SLC35A2_ENST00000376529.3_Missense_Mutation_p.A88T|SLC35A2_ENST00000376512.1_Missense_Mutation_p.A88T	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	88					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CTCTTCTGTGCGAAGAGCAGC	0.597													False	0	False	X:48767103	0	T	48767103	C	T	48767103	3	4	88	1	0	0	0	0	1	0	0	0	14651	768	27	1	1100	1	SLC35A2	23	48767103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92440	48767103	106503457	20498	28210											
KCND1	3750	broad.mit.edu	37	chrX	48823034	48823034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatgttgctgttcaaagGcagaacggttcctgacacaa	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48823034G>A	ENST00000218176.3	-	4	2715	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V	KCND1_ENST00000376477.1_Missense_Mutation_p.A96V	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	473						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CTGTTCAAAGGCAGAACGGTT	0.547													False	0	False	X:48823034	0	A	48823034	G	A	48823034	3	1	88	1	0	0	0	0	1	0	0	0	8068	1203	42	2	537	2	KCND1	23	48823034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55931	48823034	106447526	20499	28211											
GRIPAP1	56850	broad.mit.edu	37	chrX	48840196	48840196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcccctaccttccgagcCtcctgtaattcctgggtcaa	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48840196C>T	ENST00000376423.4	-	14	1136	c.1104G>A	c.(1102-1104)gaG>gaA	p.E368E	GRIPAP1_ENST00000376444.3_Silent_p.E376E|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376441.1_Silent_p.E421E|GRIPAP1_ENST00000376425.3_Silent_p.E390E			Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	421						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CCTTCCGAGCCTCCTGTAATT	0.517													False	0	False	X:48840196	0	T	48840196	C	T	48840196	2	4	88	1	0	0	0	0	0	0	0	1	6836	680	24	2		2	GRIPAP1	23	48840196	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17162	48840196	106430364	20500	28212											
TFE3	7030	broad.mit.edu	37	chrX	48888050	48888050	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagccgaagtcgtggccaaGgaaagcagccctggagtggg	17	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48888050G>T	ENST00000315869.7	-	10	1606	c.1347C>A	c.(1345-1347)tcC>tcA	p.S449S		NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	449					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCGTGGCCAAGGAAAGCAGCC	0.587			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								False	0	False	X:48888050	0	T	48888050	G	T	48888050	2	4	88	1	0	0	0	0	0	0	0	1	15882	987	35	3		3	TFE3	23	48888050	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47854	48888050	106382510	20501	28213											
GPKOW	27238	broad.mit.edu	37	chrX	48972297	48972297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtccacaaaccgcacaCgcaggtccctgtgcaaccag	9	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48972297C>T	ENST00000156109.5	-	8	1166	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	363						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						AAACCGCACACGCAGGTCCCT	0.582													False	0	False	X:48972297	0	T	48972297	C	T	48972297	3	4	88	1	0	0	0	0	1	0	0	0	6659	536	19	1	358	1	GPKOW	23	48972297	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84247	48972297	106298263	20502	28214											
GPKOW	27238	broad.mit.edu	37	chrX	48973491	48973491	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagacgaaccatggcccgaAcattgtcaggatcaaggcct	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48973491A>C	ENST00000156109.5	-	6	884	c.806T>G	c.(805-807)gTt>gGt	p.V269G		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	269						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CATGGCCCGAACATTGTCAGG	0.552													False	0	False	X:48973491	0	C	48973491	A	C	48973491	3	2	88	1	0	0	0	0	1	0	0	0	6659	43	2	4	648	4	GPKOW	23	48973491	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1194	48973491	106297069	20503	28215											
MAGIX	79917	broad.mit.edu	37	chrX	49019191	49019191	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagagctcaaaactcgtcGctggctgccctgcgtccacc	9	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49019191G>A	ENST00000376339.1	+	0	131				MAGIX_ENST00000425661.2_De_novo_Start_InFrame			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked																		AAAACTCGTCGCTGGCTGCCC	0.682													False	0	True	X:49019191	0	A	49019191	G	A	49019191	1	1	88	1	0	0	0	0	0	0	0	0	9260	1102	38	1		1	MAGIX	23	49019191	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45700	49019191	106251369	20504	28216											
MAGIX	79917	broad.mit.edu	37	chrX	49021166	49021166	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcggaggcctcctgcctcaGggcaaactatgtacacctgt	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49021166G>T	ENST00000376338.3	+	2	147	c.68G>T	c.(67-69)aGg>aTg	p.R23M	MAGIX_ENST00000412696.2_Intron|MAGIX_ENST00000498742.1_Intron|MAGIX_ENST00000376339.1_Missense_Mutation_p.R23M|MAGIX_ENST00000425661.2_Intron			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	0																	TCCTGCCTCAGGGCAAACTAT	0.542													False	0	True	X:49021166	0	T	49021166	G	T	49021166	3	4	88	1	0	0	0	0	1	0	0	0	9260	1015	35	3		3	MAGIX	23	49021166	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1975	49021166	106249394	20505	28217											
MAGIX	79917	broad.mit.edu	37	chrX	49022434	49022434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgtcatggccagatcgcaGcccagatcctggagggccgg	14	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49022434G>T	ENST00000376338.3	+	4	603	c.524G>T	c.(523-525)aGc>aTc	p.S175I	MAGIX_ENST00000412696.2_Missense_Mutation_p.S234I|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.S170I|MAGIX_ENST00000425661.2_Missense_Mutation_p.S158I			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	234	PDZ.																CCAGATCGCAGCCCAGATCCT	0.607													False	0	True	X:49022434	0	T	49022434	G	T	49022434	3	4	88	1	0	0	0	0	1	0	0	0	9260	971	34	3	763	3	MAGIX	23	49022434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1268	49022434	106248126	20506	28218											
CACNA1F	778	broad.mit.edu	37	chrX	49071930	49071930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtagacaatgaagaacaCtgagatctccacacggtaat	9	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49071930C>T	ENST00000376265.2	-	28	3404	c.3343G>A	c.(3343-3345)Gtg>Atg	p.V1115M	CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1104M|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1050M	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1115	Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ATGAAGAACACTGAGATCTCC	0.507													False	0	False	X:49071930	0	T	49071930	C	T	49071930	3	4	88	1	0	0	0	0	1	0	0	0	2563	565	20	2	2674	2	CACNA1F	23	49071930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49496	49071930	106198630	20507	28219											
CACNA1F	778	broad.mit.edu	37	chrX	49079532	49079532	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaagaggagaagcagcaaGgatgcgatggatttcattga	15	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49079532G>T	ENST00000376265.2	-	15	2035	c.1974C>A	c.(1972-1974)tcC>tcA	p.S658S	CACNA1F_ENST00000323022.5_Silent_p.S647S|CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000376251.1_Silent_p.S593S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	658					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GAAGCAGCAAGGATGCGATGG	0.522													False	0	False	X:49079532	0	T	49079532	G	T	49079532	2	4	88	1	0	0	0	0	0	0	0	1	2563	987	35	3		3	CACNA1F	23	49079532	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7602	49079532	106191028	20508	28220											
CACNA1F	778	broad.mit.edu	37	chrX	49088333	49088333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgggggcccggggcacaGcccccattcgggaccagggc	17	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49088333G>A	ENST00000376265.2	-	2	143	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	CACNA1F_ENST00000323022.5_Silent_p.L28L|CACNA1F_ENST00000376251.1_Intron	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	28					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCGGGGCACAGCCCCCATTCG	0.622													False	0	True	X:49088333	0	A	49088333	G	A	49088333	2	1	88	1	0	0	0	0	0	0	0	1	2563	962	34	2		2	CACNA1F	23	49088333	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8801	49088333	106182227	20509	28221											
AKAP4	8852	broad.mit.edu	37	chrX	49957076	49957076	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctatttgtagagcactgaTtattgacaattacttcatgt	7	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49957076T>G	ENST00000376056.2	-	5	2411	c.2261A>C	c.(2260-2262)aAt>aCt	p.N754T	AKAP4_ENST00000376058.2_Missense_Mutation_p.N380T|AKAP4_ENST00000358526.2_Missense_Mutation_p.N763T|AKAP4_ENST00000376064.3_Missense_Mutation_p.N754T|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	763					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AGAGCACTGATTATTGACAAT	0.478													False	0	False	X:49957076	0	G	49957076	T	G	49957076	3	3	88	1	0	0	0	0	1	0	0	0	453	1493	52	4	284	4	AKAP4	23	49957076	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	868743	49957076	105313484	20510	28222											
AKAP4	8852	broad.mit.edu	37	chrX	49957477	49957477	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgaatcagcattagaacGatgtttgacatatccatttt	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49957477G>A	ENST00000376056.2	-	5	2010	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	AKAP4_ENST00000376058.2_Silent_p.I246I|AKAP4_ENST00000358526.2_Silent_p.I629I|AKAP4_ENST00000376064.3_Silent_p.I620I|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	629					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GCATTAGAACGATGTTTGACA	0.458													False	0	False	X:49957477	0	A	49957477	G	A	49957477	2	1	88	1	0	0	0	0	0	0	0	1	453	1048	37	1		1	AKAP4	23	49957477	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	401	49957477	105313083	20511	28223											
DGKK	139189	broad.mit.edu	37	chrX	50144087	50144087	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgactgatgagcgatgGcttctgaagcaacattcctt	11	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50144087G>A	ENST00000376025.2	-	0	1418							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGAGCGATGGCTTCTGAAGC	0.473													False	0	False	X:50144087	0	A	50144087	G	A	50144087	1	1	88	0	1	0	0	0	0	0	0	0	4502	1194	42	2		2	DGKK	23	50144087	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186610	50144087	105126473	20512	28224											
DGKK	139189	broad.mit.edu	37	chrX	50144126	50144126	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaaaccgtctcctacaGtcatcatgcacctgaaacga	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50144126G>T	ENST00000376025.2	-	0	1379							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTCTCCTACAGTCATCATGCA	0.458													False	0	False	X:50144126	0	T	50144126	G	T	50144126	1	4	88	0	1	0	0	0	0	0	0	0	4502	1020	36	3		3	DGKK	23	50144126	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	50144126	105126434	20513	28225											
SHROOM4	57477	broad.mit.edu	37	chrX	50350432	50350432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccaaagcccaccaatgCcatagtagcaagggggctga	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50350432C>T	ENST00000376020.2	-	6	3735	c.3710G>A	c.(3709-3711)gGc>gAc	p.G1237D	SHROOM4_ENST00000289292.7_Missense_Mutation_p.G1237D|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1121D	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1237	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCCACCAATGCCATAGTAGCA	0.507													False	0	False	X:50350432	0	T	50350432	C	T	50350432	3	4	88	1	0	0	0	0	1	0	0	0	14377	739	26	2	787	2	SHROOM4	23	50350432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206306	50350432	104920128	20514	28226											
SHROOM4	57477	broad.mit.edu	37	chrX	50376791	50376791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggatggcatcctccccaGcttgagcagtagaagccttc	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50376791G>T	ENST00000376020.2	-	4	2307	c.2282C>A	c.(2281-2283)gCt>gAt	p.A761D	SHROOM4_ENST00000289292.7_Missense_Mutation_p.A761D|SHROOM4_ENST00000460112.3_Missense_Mutation_p.A645D	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	761					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATCCTCCCCAGCTTGAGCAGT	0.478													False	0	False	X:50376791	0	T	50376791	G	T	50376791	3	4	88	1	0	0	0	0	1	0	0	0	14377	971	34	3	2223	3	SHROOM4	23	50376791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26359	50376791	104893769	20515	28227											
SHROOM4	57477	broad.mit.edu	37	chrX	50377526	50377526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaattcactggctgctctgCttgttctgtttgggtccagg	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50377526C>T	ENST00000376020.2	-	4	1572	c.1547G>A	c.(1546-1548)aGc>aAc	p.S516N	SHROOM4_ENST00000289292.7_Missense_Mutation_p.S516N|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S400N	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	516					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGCTGCTCTGCTTGTTCTGTT	0.532													False	0	True	X:50377526	0	T	50377526	C	T	50377526	3	4	88	1	0	0	0	0	1	0	0	0	14377	797	28	2	2958	2	SHROOM4	23	50377526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	735	50377526	104893034	20516	28228											
BMP15	9210	broad.mit.edu	37	chrX	50659581	50659581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaggagtatgagggtatgAttgctgagtcttgtacatgc	13	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50659581A>G	ENST00000252677.3	+	2	1153	c.1153A>G	c.(1153-1155)Att>Gtt	p.I385V		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	385					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TGAGGGTATGATTGCTGAGTC	0.443													False	0	False	X:50659581	0	G	50659581	A	G	50659581	3	3	88	1	0	0	0	0	1	0	0	0	1463	333	12	4	1159	4	BMP15	23	50659581	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	282055	50659581	104610979	20517	28229											
NUDT11	0	broad.mit.edu	37	chrX	51239242	51239242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcacaggcacgccgcccGcttcttgaacccctcggggt	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:51239242G>A	ENST00000375992.3	-	1	206	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	19	Nudix hydrolase.|Substrate binding (By similarity).					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CACGCCGCCCGCTTCTTGAAC	0.672										HNSCC(48;0.14)			False	0	True	X:51239242	0	A	51239242	G	A	51239242	3	1	88	1	0	0	0	0	1	0	0	0	10795	1086	38	1	447	1	NUDT11	23	51239242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	579661	51239242	104031318	20518	28230											
SSX7	280658	broad.mit.edu	37	chrX	52681355	52681355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcccctggaggtctgtgGcccctgtattatgcatgaaa	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:52681355G>A	ENST00000298181.5	-	4	385	c.227C>T	c.(226-228)gCc>gTc	p.A76V		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	76	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GAGGTCTGTGGCCCCTGTATT	0.507													False	0	True	X:52681355	0	A	52681355	G	A	52681355	3	1	88	1	0	0	0	0	1	0	0	0	15291	1203	42	2	355	2	SSX7	23	52681355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1442113	52681355	102589205	20519	28231											
GPR173	54328	broad.mit.edu	37	chrX	53106692	53106692	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgatcacactgctctttctgCtcctctggtcaccctacatc	5	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53106692C>A	ENST00000332582.4	+	2	1380	c.889C>A	c.(889-891)Ctc>Atc	p.L297I		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	297						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GCTCTTTCTGCTCCTCTGGTC	0.592													False	0	False	X:53106692	0	A	53106692	C	A	53106692	3	1	88	1	0	0	0	0	1	0	0	0	6717	797	28	3	891	3	GPR173	23	53106692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	425337	53106692	102163868	20520	28232											
KDM5C	8242	broad.mit.edu	37	chrX	53245326	53245326	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggggcctgccccatagatCtgtagctttttcagctctgg	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53245326C>A	ENST00000452825.3	-	4	1042	c.510G>T	c.(508-510)caG>caT	p.Q170H	KDM5C_ENST00000404049.3_Missense_Mutation_p.Q236H|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q237H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q196H|KDM5C_ENST00000375401.3_Missense_Mutation_p.Q237H	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	237					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCCCATAGATCTGTAGCTTTT	0.532			"N, F, S"		clear cell renal carcinoma								False	0	False	X:53245326	0	A	53245326	C	A	53245326	3	1	88	1	0	0	0	0	1	0	0	0	8185	912	32	3	4153	3	KDM5C	23	53245326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138634	53245326	102025234	20521	28233											
SMC1A	8243	broad.mit.edu	37	chrX	53439881	53439881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatctgctgctgctcccGcatcattttgcccagctcct	6	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53439881G>A	ENST00000322213.4	-	5	950	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	275					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						tgctgctcccgcatcattttg	0.507													False	0	True	X:53439881	0	A	53439881	G	A	53439881	3	1	88	1	0	0	0	0	1	0	0	0	14861	1086	38	1	2962	1	SMC1A	23	53439881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194555	53439881	101830679	20522	28234											
RIBC1	158787	broad.mit.edu	37	chrX	53456828	53456828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtaaccagctgcgcctcGccatggatgcacaggccacc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53456828G>A	ENST00000375327.3	+	6	724	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	RIBC1_ENST00000414955.2_Missense_Mutation_p.A76T	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	191										lung(2)	2						GCTGCGCCTCGCCATGGATGC	0.577													False	0	False	X:53456828	0	A	53456828	G	A	53456828	3	1	88	1	0	0	0	0	1	0	0	0	13431	1087	38	1	620	1	RIBC1	23	53456828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16947	53456828	101813732	20523	28235											
HUWE1	10075	broad.mit.edu	37	chrX	53575044	53575044	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcgctcactggcactgacTtcacggagttcttgcctttc	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53575044T>A	ENST00000342160.3	-	67	10683	c.10226A>T	c.(10225-10227)aAg>aTg	p.K3409M	HUWE1_ENST00000262854.6_Missense_Mutation_p.K3409M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3409					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGCACTGACTTCACGGAGTT	0.547													False	0	False	X:53575044	0	A	53575044	T	A	53575044	3	1	88	1	0	0	0	0	1	0	0	0	7511	1609	56	5	2966	5	HUWE1	23	53575044	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	118216	53575044	101695516	20524	28236											
HUWE1	10075	broad.mit.edu	37	chrX	53579602	53579602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacacatgcttacctgTcctcaggtggctgggcagat	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53579602T>C	ENST00000342160.3	-	61	9204	c.8747A>G	c.(8746-8748)gAc>gGc	p.D2916G	HUWE1_ENST00000262854.6_Missense_Mutation_p.D2916G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2916					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCTTACCTGTCCTCAGGTGG	0.542													False	0	False	X:53579602	0	C	53579602	T	C	53579602	3	2	88	1	0	0	0	0	1	0	0	0	7511	1667	58	4	4469	4	HUWE1	23	53579602	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4558	53579602	101690958	20525	28237											
HUWE1	10075	broad.mit.edu	37	chrX	53631738	53631738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagggctccagggaggagaGgatggagtccaactgaagga	17	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53631738G>A	ENST00000342160.3	-	25	3011	c.2554C>T	c.(2554-2556)Ctc>Ttc	p.L852F	HUWE1_ENST00000218328.8_Missense_Mutation_p.L852F|HUWE1_ENST00000262854.6_Missense_Mutation_p.L852F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	852					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGGGAGGAGAGGATGGAGTCC	0.493													False	0	True	X:53631738	0	A	53631738	G	A	53631738	3	1	88	1	0	0	0	0	1	0	0	0	7511	1000	35	2	10806	2	HUWE1	23	53631738	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52136	53631738	101638822	20526	28238											
HUWE1	10075	broad.mit.edu	37	chrX	53674485	53674485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtattccatcgaagcgGtccaacaggtccacccagtg	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53674485G>A	ENST00000342160.3	-	5	634	c.177C>T	c.(175-177)gaC>gaT	p.D59D	HUWE1_ENST00000218328.8_Silent_p.D59D|HUWE1_ENST00000262854.6_Silent_p.D59D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	59					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CATCGAAGCGGTCCAACAGGT	0.483													False	0	False	X:53674485	0	A	53674485	G	A	53674485	2	1	88	1	0	0	0	0	0	0	0	1	7511	1252	44	2		2	HUWE1	23	53674485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42747	53674485	101596075	20527	28239											
FAM120C	54954	broad.mit.edu	37	chrX	54185844	54185844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaattcatcctcttcaggCccagctgcttggctacttct	8	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54185844C>T	ENST00000375180.2	-	2	961	c.905G>A	c.(904-906)gGc>gAc	p.G302D	FAM120C_ENST00000328235.4_Missense_Mutation_p.G302D	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	302										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCTCTTCAGGCCCAGCTGCTT	0.468													False	0	True	X:54185844	0	T	54185844	C	T	54185844	3	4	88	1	0	0	0	0	1	0	0	0	5454	739	26	2	2445	2	FAM120C	23	54185844	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	511359	54185844	101084716	20528	28240											
FGD1	2245	broad.mit.edu	37	chrX	54473856	54473856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaggaagctgcagatgAcgctgttctctgcagccact	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54473856A>G	ENST00000375135.3	-	17	3201	c.2468T>C	c.(2467-2469)gTc>gCc	p.V823A		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	823	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGCAGATGACGCTGTTCTC	0.532													False	0	False	X:54473856	0	G	54473856	A	G	54473856	3	3	88	1	0	0	0	0	1	0	0	0	5872	275	10	4	425	4	FGD1	23	54473856	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	288012	54473856	100796704	20529	28241											
FGD1	2245	broad.mit.edu	37	chrX	54496845	54496845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggctctgggggacctggGctggggccagggactggtct	19	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54496845G>A	ENST00000375135.3	-	4	1438	c.705C>T	c.(703-705)agC>agT	p.S235S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	235	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGGACCTGGGCTGGGGCCAG	0.642													False	0	True	X:54496845	0	A	54496845	G	A	54496845	2	1	88	1	0	0	0	0	0	0	0	1	5872	1194	42	2		2	FGD1	23	54496845	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22989	54496845	100773715	20530	28242											
MAGED2	10916	broad.mit.edu	37	chrX	54837363	54837363	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatggcctcaatggcccgcaGggcttcaaggggtcccatag	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54837363G>T	ENST00000375068.1	+	4	880	c.647G>T	c.(646-648)aGg>aTg	p.R216M	MAGED2_ENST00000375060.1_Intron|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375053.2_Missense_Mutation_p.R216M|MAGED2_ENST00000396224.1_Missense_Mutation_p.R216M|MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000218439.4_Missense_Mutation_p.R216M|MAGED2_ENST00000347546.4_Missense_Mutation_p.R198M|MAGED2_ENST00000375058.1_Missense_Mutation_p.R216M			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	216	Arg-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ATGGCCCGCAGGGCTTCAAGG	0.602													False	0	True	X:54837363	0	T	54837363	G	T	54837363	3	4	88	1	0	0	0	0	1	0	0	0	9251	1000	35	3	657	3	MAGED2	23	54837363	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340518	54837363	100433197	20531	28243											
TRO	7216	broad.mit.edu	37	chrX	54954201	54954201	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcaagatgaaagtcctcaAgtttgcatgcagggtaagag	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54954201A>C	ENST00000173898.7	+	11	1977	c.1865A>C	c.(1864-1866)aAg>aCg	p.K622T	TRO_ENST00000420798.2_Missense_Mutation_p.K153T|TRO_ENST00000375022.4_Missense_Mutation_p.K622T|TRO_ENST00000399736.1_Missense_Mutation_p.K225T|TRO_ENST00000375041.2_Missense_Mutation_p.K225T|TRO_ENST00000319167.8_Missense_Mutation_p.K622T	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	622	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAAGTCCTCAAGTTTGCATGC	0.537													False	0	False	X:54954201	0	C	54954201	A	C	54954201	3	2	88	1	0	0	0	0	1	0	0	0	16657	72	3	4	1903	4	TRO	23	54954201	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116838	54954201	100316359	20532	28244											
TRO	7216	broad.mit.edu	37	chrX	54955207	54955207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggaattgggatgacatgGatatcgactgcctaacaagg	12	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54955207G>A	ENST00000173898.7	+	12	2162	c.2050G>A	c.(2050-2052)Gat>Aat	p.D684N	TRO_ENST00000420798.2_Missense_Mutation_p.D215N|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.D287N|TRO_ENST00000319167.8_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	684					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ggATGACATGGATATCGACTG	0.537													False	0	False	X:54955207	0	A	54955207	G	A	54955207	3	1	88	1	0	0	0	0	1	0	0	0	16657	1174	41	2	2092	2	TRO	23	54955207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1006	54955207	100315353	20533	28245											
TRO	7216	broad.mit.edu	37	chrX	54957437	54957437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccagtcttggtgcctgtgGcttctcgtatggctagtgag	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54957437G>A	ENST00000173898.7	+	12	4392	c.4280G>A	c.(4279-4281)gGc>gAc	p.G1427D	TRO_ENST00000420798.2_Missense_Mutation_p.G958D|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G1030D|TRO_ENST00000319167.8_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1427	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GGTGCCTGTGGCTTCTCGTAT	0.557													False	0	False	X:54957437	0	A	54957437	G	A	54957437	3	1	88	1	0	0	0	0	1	0	0	0	16657	1203	42	2	4322	2	TRO	23	54957437	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2230	54957437	100313123	20534	28246											
PFKFB1	5207	broad.mit.edu	37	chrX	54959869	54959869	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggacagtatccagggcttcCtcaggttcccgggtgatgtc	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54959869C>A	ENST00000375006.3	-	14	1453	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	PFKFB1_ENST00000545676.1_Missense_Mutation_p.E396D|PFKFB1_ENST00000374992.2_Missense_Mutation_p.E261D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	461	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCAGGGCTTCCTCAGGTTCCC	0.542													False	0	False	X:54959869	0	A	54959869	C	A	54959869	3	1	88	1	0	0	0	0	1	0	0	0	11829	680	24	3	36	3	PFKFB1	23	54959869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2432	54959869	100310691	20535	28247											
PFKFB1	5207	broad.mit.edu	37	chrX	54978518	54978518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgtagcgtgtgcccacGtcgaagatcttgatgtagga	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54978518G>A	ENST00000375006.3	-	8	736	c.666C>T	c.(664-666)gaC>gaT	p.D222D	PFKFB1_ENST00000545676.1_Silent_p.D157D|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	222	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GTGTGCCCACGTCGAAGATCT	0.567													False	0	False	X:54978518	0	A	54978518	G	A	54978518	2	1	88	1	0	0	0	0	0	0	0	1	11829	1136	40	1		1	PFKFB1	23	54978518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18649	54978518	100292042	20536	28248											
ALAS2	212	broad.mit.edu	37	chrX	55035746	55035746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacatcctggaggggcagcCccaccgcagtccaagccagc	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:55035746C>T	ENST00000330807.5	-	11	1768	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	ALAS2_ENST00000396198.3_Missense_Mutation_p.G531E|ALAS2_ENST00000335854.4_Missense_Mutation_p.G507E|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	544					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGGGGCAGCCCCACCGCAGT	0.547													False	0	True	X:55035746	0	T	55035746	C	T	55035746	3	4	88	1	0	0	0	0	1	0	0	0	485	623	22	2	136	2	ALAS2	23	55035746	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57228	55035746	100234814	20537	28249											
RRAGB	10325	broad.mit.edu	37	chrX	55748704	55748704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgccagagacacacgtcGccttggcgcaacaagtaaga	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:55748704G>A	ENST00000374941.4	+	3	801	c.212G>A	c.(211-213)cGc>cAc	p.R71H	RRAGB_ENST00000262850.7_Missense_Mutation_p.R71H	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	71					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GACACACGTCGCCTTGGCGCA	0.398													False	0	False	X:55748704	0	A	55748704	G	A	55748704	3	1	88	1	0	0	0	0	1	0	0	0	13752	1087	38	1	222	1	RRAGB	23	55748704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	712958	55748704	99521856	20538	28250											
SPIN3	169981	broad.mit.edu	37	chrX	57021054	57021054	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgcaactctattaggaagGacttcaagtgatgacactct	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:57021054G>A	ENST00000374919.3	-	2	649	c.327C>T	c.(325-327)gtC>gtT	p.V109V		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	109					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TATTAGGAAGGACTTCAAGTG	0.378													False	0	True	X:57021054	0	A	57021054	G	A	57021054	2	1	88	1	0	0	0	0	0	0	0	1	15137	1161	41	2		2	SPIN3	23	57021054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1272350	57021054	98249506	20539	28251											
FAAH2	158584	broad.mit.edu	37	chrX	57318998	57318998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtgaacccaatgatcaatgGaattgtcaagtacaggtgag	11	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:57318998G>A	ENST00000374900.4	+	2	380	c.260G>A	c.(259-261)gGa>gAa	p.G87E		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	87						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ATGATCAATGGAATTGTCAAG	0.393										HNSCC(52;0.14)			False	0	False	X:57318998	0	A	57318998	G	A	57318998	3	1	88	1	0	0	0	0	1	0	0	0	5390	1174	41	2	266	2	FAAH2	23	57318998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297944	57318998	97951562	20540	28252											
ARHGEF9	23229	broad.mit.edu	37	chrX	62898340	62898340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcatctgctgcaagaggCgacaggcctcaaagaagtgc	11	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:62898340C>T	ENST00000253401.6	-	5	1474	c.674G>A	c.(673-675)cGc>cAc	p.R225H	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R223H|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R172H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R204H|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R123H|ARHGEF9_ENST00000433323.2_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	225	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGCAAGAGGCGACAGGCCTC	0.478													False	0	False	X:62898340	0	T	62898340	C	T	62898340	3	4	88	1	0	0	0	0	1	0	0	0	914	768	27	1	900	1	ARHGEF9	23	62898340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5579342	62898340	92372220	20541	28253											
ZC3H12B	340554	broad.mit.edu	37	chrX	64719114	64719115	+	Splice_Site	INS	-	-	AATCTTTTCC													attcttttgtgaatgacaagINStgcgtttctttccagtaggc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:64719114_64719115insAATCTTTTCC	ENST00000338957.4	+	3	1050		c.e3+1		ZC3H12B_ENST00000423889.3_Splice_Site	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B								endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAATGACAAGTGCGTTTCTTT	0.351													False	0	False	X:64719114	0	AATCTTTTCC	64719115	-	AATCTTTTCC	64719114	8	5	88	1	0	1	1	0	0	0	1	0	17645	1043	36	0	994	0	ZC3H12B	23	64719114	Splice_Site	INS	-	TCGA-IB-7651-01A-11D-2154-08	1820774	64719114	90551446	20542	28254											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722815	64722815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatggctaccactcctatcCcttgagtaacagcctcatgc	6	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:64722815C>T	ENST00000338957.4	+	5	2304	c.2237C>T	c.(2236-2238)cCc>cTc	p.P746L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P735L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	735							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTCCTATCCCTTGAGTAAC	0.557													False	0	True	X:64722815	0	T	64722815	C	T	64722815	3	4	88	1	0	0	0	0	1	0	0	0	17645	623	22	2	2255	2	ZC3H12B	23	64722815	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3701	64722815	90547745	20543	28255											
VSIG4	11326	broad.mit.edu	37	chrX	65253408	65253408	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacacgtgtagtggctccggTcatccatctccagggtgctc	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65253408T>G	ENST00000455586.2	-	2	446	c.320A>C	c.(319-321)gAc>gCc	p.D107A	VSIG4_ENST00000412866.2_Missense_Mutation_p.D107A|VSIG4_ENST00000374737.4_Missense_Mutation_p.D107A	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	107	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGGCTCCGGTCATCCATCTC	0.542													False	0	True	X:65253408	0	G	65253408	T	G	65253408	3	3	88	1	0	0	0	0	1	0	0	0	17309	1667	58	4	911	4	VSIG4	23	65253408	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	530593	65253408	90017152	20544	28256											
HEPH	9843	broad.mit.edu	37	chrX	65420449	65420449	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtgacacagtggcctgGcacctgctcggcctgggcac	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65420449G>A	ENST00000519389.1	+	12	2273	c.2094G>A	c.(2092-2094)tgG>tgA	p.W698*	HEPH_ENST00000441993.2_Nonsense_Mutation_p.W647*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.W377*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.W647*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.W644*|HEPH_ENST00000419594.1_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	644	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGTGGCCTGGCACCTGCTCG	0.547													False	0	False	X:65420449	0	A	65420449	G	A	65420449	4	1	88	1	0	0	0	0	0	1	0	0	7101	1212	42	2	2140	2	HEPH	23	65420449	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167041	65420449	89850111	20545	28257											
HEPH	9843	broad.mit.edu	37	chrX	65420511	65420511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgttccagggcaacactgTgcagcttcagggcatgagga	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65420511T>C	ENST00000519389.1	+	12	2335	c.2156T>C	c.(2155-2157)gTg>gCg	p.V719A	HEPH_ENST00000441993.2_Missense_Mutation_p.V668A|HEPH_ENST00000336279.5_Missense_Mutation_p.V398A|HEPH_ENST00000374727.3_Missense_Mutation_p.V668A|HEPH_ENST00000343002.2_Missense_Mutation_p.V665A|HEPH_ENST00000419594.1_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	665					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCAACACTGTGCAGCTTCAG	0.567													False	0	False	X:65420511	0	C	65420511	T	C	65420511	3	2	88	1	0	0	0	0	1	0	0	0	7101	1696	59	4	2202	4	HEPH	23	65420511	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62	65420511	89850049	20546	28258											
HEPH	9843	broad.mit.edu	37	chrX	65486305	65486305	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccccccagagacattgaaGaaggcaatgtgaagatgctg	12	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65486305G>A	ENST00000519389.1	+	21	3609	c.3430G>A	c.(3430-3432)Gaa>Aaa	p.E1144K	HEPH_ENST00000441993.2_Missense_Mutation_p.E1092K|HEPH_ENST00000336279.5_Missense_Mutation_p.E823K|HEPH_ENST00000374727.3_Missense_Mutation_p.E1093K|HEPH_ENST00000343002.2_Missense_Mutation_p.E1090K|HEPH_ENST00000419594.1_Missense_Mutation_p.E901K			Q9BQS7	HEPH_HUMAN	hephaestin	1090					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGACATTGAAGAAGGCAATGT	0.463													False	0	False	X:65486305	0	A	65486305	G	A	65486305	3	1	88	1	0	0	0	0	1	0	0	0	7101	943	33	2	3512	2	HEPH	23	65486305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65794	65486305	89784255	20547	28259											
AR	367	broad.mit.edu	37	chrX	66937403	66937403	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtttgccatgggctggCgatccttcaccaatgtcaac	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:66937403C>T	ENST00000374690.3	+	5	2781	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Nonsense_Mutation_p.R221*	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	752	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CATGGGCTGGCGATCCTTCAC	0.532									Androgen Insensitivity Syndrome				False	0	False	X:66937403	0	T	66937403	C	T	66937403	4	4	88	1	0	0	0	0	0	1	0	0	838	760	27	1	2299	1	AR	23	66937403	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1451098	66937403	88333157	20548	28260											
OPHN1	4983	broad.mit.edu	37	chrX	67283811	67283811	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcctttggggtgatcttggtCcctccatcctgcagcctaga	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67283811C>A	ENST00000355520.5	-	21	2684	c.2043G>T	c.(2041-2043)ggG>ggT	p.G681G	OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	681	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGATCTTGGTCCCTCCATCCT	0.612													False	0	True	X:67283811	0	A	67283811	C	A	67283811	2	1	88	1	0	0	0	0	0	0	0	1	10943	842	30	3		3	OPHN1	23	67283811	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	346408	67283811	87986749	20549	28261											
STARD8	9754	broad.mit.edu	37	chrX	67937991	67937991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgggccatgtacccagAcctggggcctggagatgagg	16	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67937991A>G	ENST00000252336.6	+	5	1367	c.995A>G	c.(994-996)gAc>gGc	p.D332G	STARD8_ENST00000374599.3_Missense_Mutation_p.D412G|STARD8_ENST00000374597.3_Missense_Mutation_p.D332G	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	332					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATGTACCCAGACCTGGGGCCT	0.577													False	0	False	X:67937991	0	G	67937991	A	G	67937991	3	3	88	1	0	0	0	0	1	0	0	0	15345	275	10	4	1257	4	STARD8	23	67937991	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	654180	67937991	87332569	20550	28262											
STARD8	9754	broad.mit.edu	37	chrX	67938081	67938081	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgccaagctgaggctctcaGccagatggaggttccggccc	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67938081G>C	ENST00000252336.6	+	5	1457	c.1085G>C	c.(1084-1086)aGc>aCc	p.S362T	STARD8_ENST00000374599.3_Missense_Mutation_p.S442T|STARD8_ENST00000374597.3_Missense_Mutation_p.S362T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	362					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GAGGCTCTCAGCCAGATGGAG	0.602													False	0	False	X:67938081	0	C	67938081	G	C	67938081	3	2	88	1	0	0	0	0	1	0	0	0	15345	971	34	5	1347	5	STARD8	23	67938081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90	67938081	87332479	20551	28263											
STARD8	9754	broad.mit.edu	37	chrX	67938201	67938201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagtggcacaggaagaggCtgaggccccggccccagccc	14	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67938201C>A	ENST00000252336.6	+	5	1577	c.1205C>A	c.(1204-1206)gCt>gAt	p.A402D	STARD8_ENST00000374599.3_Missense_Mutation_p.A482D|STARD8_ENST00000374597.3_Missense_Mutation_p.A402D	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	402					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CAGGAAGAGGCTGAggccccg	0.687													False	0	False	X:67938201	0	A	67938201	C	A	67938201	3	1	88	1	0	0	0	0	1	0	0	0	15345	797	28	3	1467	3	STARD8	23	67938201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120	67938201	87332359	20552	28264											
EFNB1	1947	broad.mit.edu	37	chrX	68060137	68060137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcaagtgggggcagcagCggggaccctgatggcttctt	18	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68060137C>T	ENST00000204961.4	+	5	1461	c.681C>T	c.(679-681)agC>agT	p.S227S		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	227					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GGGGCAGCAGCGGGGACCCTG	0.597													False	0	True	X:68060137	0	T	68060137	C	T	68060137	2	4	88	1	0	0	0	0	0	0	0	1	4985	767	27	1		1	EFNB1	23	68060137	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121936	68060137	87210423	20553	28265											
PJA1	64219	broad.mit.edu	37	chrX	68382464	68382464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcttgccttcagaagacgaCtgtgaggccacactactttg	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382464C>A	ENST00000361478.1	-	2	995	c.618G>T	c.(616-618)caG>caT	p.Q206H	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Missense_Mutation_p.Q151H|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374583.1_Missense_Mutation_p.Q206H	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	206							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CAGAAGACGACTGTGAGGCCA	0.542													False	0	False	X:68382464	0	A	68382464	C	A	68382464	3	1	88	1	0	0	0	0	1	0	0	0	12030	564	20	3	1317	3	PJA1	23	68382464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	322327	68382464	86888096	20554	28266											
PJA1	64219	broad.mit.edu	37	chrX	68382676	68382676	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccctctcactggcggtcGctcaacaggcccagccccct	8	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382676G>A	ENST00000361478.1	-	2	783	c.406C>T	c.(406-408)Cga>Tga	p.R136*	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Nonsense_Mutation_p.R81*|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374583.1_Nonsense_Mutation_p.R136*	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	136							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ACTGGCGGTCGCTCAACAGGC	0.522													False	0	False	X:68382676	0	A	68382676	G	A	68382676	4	1	88	1	0	0	0	0	0	1	0	0	12030	1095	38	1	1529	1	PJA1	23	68382676	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212	68382676	86887884	20555	28267											
PJA1	64219	broad.mit.edu	37	chrX	68382741	68382741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagtcaatatgtccatagGccattcctcttctgctaccc	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382741G>A	ENST00000361478.1	-	2	718	c.341C>T	c.(340-342)gCc>gTc	p.A114V	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Missense_Mutation_p.A59V|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374583.1_Missense_Mutation_p.A114V	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	114							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATGTCCATAGGCCATTCCTCT	0.507													False	0	False	X:68382741	0	A	68382741	G	A	68382741	3	1	88	1	0	0	0	0	1	0	0	0	12030	1203	42	2	1594	2	PJA1	23	68382741	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	68382741	86887819	20556	28268											
FAM155B	27112	broad.mit.edu	37	chrX	68725452	68725452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccggcgagcccagcgcGcccccaggcacctgcggccc	13	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68725452G>A	ENST00000252338.4	+	1	369	c.327G>A	c.(325-327)gcG>gcA	p.A109A		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	109						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						agcccagcgcgcccccAGGCA	0.816													False	0	True	X:68725452	0	A	68725452	G	A	68725452	2	1	88	1	0	0	0	0	0	0	0	1	5502	1074	38	1		1	FAM155B	23	68725452	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342711	68725452	86545108	20557	28269											
EDA	1896	broad.mit.edu	37	chrX	68836217	68836217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgccgcgggagcgagggaGccagggctgcgggtgtggcg	23	10	0	0	rs41539891		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68836217G>A	ENST00000374552.4	+	1	307	c.65G>A	c.(64-66)aGc>aAc	p.S22N	EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Missense_Mutation_p.S22N|EDA_ENST00000525810.1_Missense_Mutation_p.S22N|EDA_ENST00000374553.2_Missense_Mutation_p.S22N|EDA_ENST00000527388.1_Missense_Mutation_p.S22N|EDA_ENST00000338901.3_Missense_Mutation_p.S22N	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	22					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GAGCGAGGGAGCCAGGGCTGC	0.716													False	0	False	X:68836217	0	A	68836217	G	A	68836217	3	1	88	1	0	0	0	0	1	0	0	0	4933	971	34	2	67	2	EDA	23	68836217	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110765	68836217	86434343	20558	28270											
DGAT2L6	347516	broad.mit.edu	37	chrX	69420280	69420280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaggatattttggatccCaattgtgcgagaatatgtga	11	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69420280C>T	ENST00000333026.3	+	4	543	c.443C>T	c.(442-444)cCa>cTa	p.P148L		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	148					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TTTTGGATCCCAATTGTGCGA	0.408													False	0	True	X:69420280	0	T	69420280	C	T	69420280	3	4	88	1	0	0	0	0	1	0	0	0	4489	594	21	2	457	2	DGAT2L6	23	69420280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	584063	69420280	85850280	20559	28271											
ARR3	407	broad.mit.edu	37	chrX	69497300	69497300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccaccggaggcaggccCtggcccctcagcccagacca	11	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69497300C>A	ENST00000374495.3	+	9	628	c.530C>A	c.(529-531)cCt>cAt	p.P177H	ARR3_ENST00000307959.8_Missense_Mutation_p.P177H			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	177					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GAGGCAGGCCCTGGCCCCTCA	0.582													False	0	True	X:69497300	0	A	69497300	C	A	69497300	3	1	88	1	0	0	0	0	1	0	0	0	983	681	24	3	560	3	ARR3	23	69497300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77020	69497300	85773260	20560	28272											
KIF4A	24137	broad.mit.edu	37	chrX	69596055	69596055	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaagtaatacagttaaaaGaacgagtaagtaactaaaac	7	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69596055G>A	ENST00000374403.3	+	18	2111	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	KIF4A_ENST00000374388.3_Missense_Mutation_p.E677K	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	677	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACAGTTAAAAGAACGAGTAAG	0.378													False	0	True	X:69596055	0	A	69596055	G	A	69596055	3	1	88	1	0	0	0	0	1	0	0	0	8353	943	33	2	2095	2	KIF4A	23	69596055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98755	69596055	85674505	20561	28273											
DLG3	1741	broad.mit.edu	37	chrX	69719830	69719830	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcaggacaacaagttcatCgaggcgggccaatttaatga	10	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69719830C>T	ENST00000194900.4	+	18	2513	c.2172C>T	c.(2170-2172)atC>atT	p.I724I	DLG3_ENST00000374360.3_Silent_p.I692I|DLG3_ENST00000542398.1_Silent_p.I241I|DLG3_ENST00000374355.3_Silent_p.I387I|DLG3_ENST00000461646.1_3'UTR			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	692	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					ACAAGTTCATCGAGGCGGGCC	0.507													False	0	False	X:69719830	0	T	69719830	C	T	69719830	2	4	88	1	0	0	0	0	0	0	0	1	4586	874	31	1		1	DLG3	23	69719830	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123775	69719830	85550730	20562	28274											
TEX11	0	broad.mit.edu	37	chrX	69749792	69749792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctgctaaacataagtaCtccggtattccaggacttga	8	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69749792C>T	ENST00000395889.2	-	30	2778	c.2623G>A	c.(2623-2625)Gta>Ata	p.V875I	TEX11_ENST00000374333.2_Missense_Mutation_p.V860I|TEX11_ENST00000344304.3_Missense_Mutation_p.V875I|TEX11_ENST00000374320.2_Missense_Mutation_p.V550I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	875							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AACATAAGTACTCCGGTATTC	0.438													False	0	False	X:69749792	0	T	69749792	C	T	69749792	3	4	88	1	0	0	0	0	1	0	0	0	15856	565	20	2	207	2	TEX11	23	69749792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29962	69749792	85520768	20563	28275											
TEX11	0	broad.mit.edu	37	chrX	69843825	69843825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagattccggcatttcagCaatttttggaagaagaaaac	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69843825C>T	ENST00000395889.2	-	21	1926	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T	TEX11_ENST00000374333.2_Missense_Mutation_p.A576T|TEX11_ENST00000344304.3_Missense_Mutation_p.A591T|TEX11_ENST00000374320.2_Missense_Mutation_p.A266T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	591							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GGCATTTCAGCAATTTTTGGA	0.308													False	0	False	X:69843825	0	T	69843825	C	T	69843825	3	4	88	1	0	0	0	0	1	0	0	0	15856	710	25	2	1095	2	TEX11	23	69843825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94033	69843825	85426735	20564	28276											
MED12	9968	broad.mit.edu	37	chrX	70348222	70348222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagaatggctaggagtgCttaaggccttgtgctgctcc	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70348222C>A	ENST00000333646.6	+	23	3485	c.3286C>A	c.(3286-3288)Ctt>Att	p.L1096I	MED12_ENST00000374080.3_Missense_Mutation_p.L1096I|MED12_ENST00000374102.1_Missense_Mutation_p.L1096I	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1096					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCTAGGAGTGCTTAAGGCCTT	0.507			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						False	0	False	X:70348222	0	A	70348222	C	A	70348222	3	1	88	1	0	0	0	0	1	0	0	0	9495	797	28	3	3376	3	MED12	23	70348222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	504397	70348222	84922338	20565	28277											
NLGN3	54413	broad.mit.edu	37	chrX	70375079	70375079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagacatccgggacagtgGtgctaaacccgtcatggtct	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70375079G>A	ENST00000374051.3	+	4	855	c.533G>A	c.(532-534)gGt>gAt	p.G178D	NLGN3_ENST00000358741.3_Missense_Mutation_p.G198D|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.G158D	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	198					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CGGGACAGTGGTGCTAAACCC	0.602													False	0	False	X:70375079	0	A	70375079	G	A	70375079	3	1	88	1	0	0	0	0	1	0	0	0	10531	1261	44	2	607	2	NLGN3	23	70375079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26857	70375079	84895481	20566	28278											
ZMYM3	9203	broad.mit.edu	37	chrX	70471421	70471421	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcacccgttcaggcggcTtctcactcgccttcgcagtc	8	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70471421T>G	ENST00000373998.1	-	3	1395	c.698A>C	c.(697-699)aAg>aCg	p.K233T	ZMYM3_ENST00000373988.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.K233T|ZMYM3_ENST00000373982.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373978.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.K233T|ZMYM3_ENST00000353904.2_Missense_Mutation_p.K233T|ZMYM3_ENST00000373981.1_Missense_Mutation_p.K233T	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	233					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTCAGGCGGCTTCTCACTCGC	0.597													False	0	False	X:70471421	0	G	70471421	T	G	70471421	3	3	88	1	0	0	0	0	1	0	0	0	17784	1609	56	4	3524	4	ZMYM3	23	70471421	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96342	70471421	84799139	20567	28279											
TAF1	6872	broad.mit.edu	37	chrX	70586298	70586298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgggtttccttttcggcaAcatcaatggagccgggcagc	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70586298A>G	ENST00000449580.1	+	1	185	c.134A>G	c.(133-135)aAc>aGc	p.N45S	TAF1_ENST00000423759.1_Missense_Mutation_p.N45S|TAF1_ENST00000373790.4_Missense_Mutation_p.N45S|TAF1_ENST00000276072.3_Missense_Mutation_p.N45S			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	45	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CTTTTCGGCAACATCAATGGA	0.612													False	0	False	X:70586298	0	G	70586298	A	G	70586298	3	3	88	1	0	0	0	0	1	0	0	0	15595	43	2	4	136	4	TAF1	23	70586298	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	114877	70586298	84684262	20568	28280											
TAF1	6872	broad.mit.edu	37	chrX	70595105	70595105	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccacccccgggaccaatgaaGaaggataaggaccaggattc	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70595105G>T	ENST00000449580.1	+	4	552	c.501G>T	c.(499-501)aaG>aaT	p.K167N	TAF1_ENST00000423759.1_Missense_Mutation_p.K167N|TAF1_ENST00000373790.4_Missense_Mutation_p.K167N|TAF1_ENST00000276072.3_Missense_Mutation_p.K167N			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	167	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GACCAATGAAGAAGGATAAGG	0.433													False	0	False	X:70595105	0	T	70595105	G	T	70595105	3	4	88	1	0	0	0	0	1	0	0	0	15595	933	33	3	515	3	TAF1	23	70595105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8807	70595105	84675455	20569	28281											
OGT	8473	broad.mit.edu	37	chrX	70777093	70777093	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttaccgcacggctctgAaacttaagcctgattttcct	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70777093A>G	ENST00000373719.3	+	11	1586	c.1369A>G	c.(1369-1371)Aaa>Gaa	p.K457E	OGT_ENST00000373701.3_Missense_Mutation_p.K447E	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	457					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CACGGCTCTGAAACTTAAGCC	0.378													False	0	True	X:70777093	0	G	70777093	A	G	70777093	3	3	88	1	0	0	0	0	1	0	0	0	10915	247	9	4	1411	4	OGT	23	70777093	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	181988	70777093	84493467	20570	28282											
ACRC	93953	broad.mit.edu	37	chrX	70824397	70824397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaactattgtggagccaCcgaggaaaaggcagacaaag	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70824397C>T	ENST00000373695.1	+	7	1807	c.1270C>T	c.(1270-1272)Ccg>Tcg	p.P424S	ACRC_ENST00000373696.3_Missense_Mutation_p.P424S			Q96QF7	ACRC_HUMAN	acidic repeat containing	424	Arg/Lys/Pro-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGTGGAGCCACCGAGGAAAAG	0.463													False	0	False	X:70824397	0	T	70824397	C	T	70824397	3	4	88	1	0	0	0	0	1	0	0	0	171	507	18	2	1296	2	ACRC	23	70824397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47304	70824397	84446163	20571	28283											
RGAG4	340526	broad.mit.edu	37	chrX	71350291	71350291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatctcttgctgaaaagccCtcatgcgcttcctctggtcc	7	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71350291C>A	ENST00000545866.1	-	1	1467	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R367M	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	367										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTGAAAAGCCCTCATGCGCTT	0.488													False	0	True	X:71350291	0	A	71350291	C	A	71350291	3	1	88	1	0	0	0	0	1	0	0	0	13354	681	24	3	613	3	RGAG4	23	71350291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	525894	71350291	83920269	20572	28284											
RGAG4	340526	broad.mit.edu	37	chrX	71351008	71351008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcggaggcagcgccggcGggggcgggatgggcagcaga	24	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71351008G>A	ENST00000545866.1	-	1	750	c.383C>T	c.(382-384)cCg>cTg	p.P128L	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.P128L	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	128	Poly-Pro.									cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CAGCGCCGGCGGGGGCGGGAT	0.672													False	0	True	X:71351008	0	A	71351008	G	A	71351008	3	1	88	1	0	0	0	0	1	0	0	0	13354	1116	39	1	1330	1	RGAG4	23	71351008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	717	71351008	83919552	20573	28285											
NHSL2	340527	broad.mit.edu	37	chrX	71359770	71359770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggatgagtatctccatccGaagcaaaactaaggtgagtc	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71359770G>A	ENST00000373677.1	+	2	2536	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	NHSL2_ENST00000540800.1_Missense_Mutation_p.R791Q|NHSL2_ENST00000510661.1_Missense_Mutation_p.R560Q|NHSL2_ENST00000535692.1_Missense_Mutation_p.R425Q			F5H593	F5H593_HUMAN	NHS-like 2	791										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					ATCTCCATCCGAAGCAAAACT	0.483													False	0	False	X:71359770	0	A	71359770	G	A	71359770	3	1	88	1	0	0	0	0	1	0	0	0	10480	1058	37	1	2394	1	NHSL2	23	71359770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8762	71359770	83910790	20574	28286											
NHSL2	340527	broad.mit.edu	37	chrX	71360063	71360063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcttggtccacaagccaCcatctgttcctgaggagtat	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71360063C>T	ENST00000373677.1	+	2	2829	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S	NHSL2_ENST00000540800.1_Missense_Mutation_p.P889S|NHSL2_ENST00000510661.1_Missense_Mutation_p.P658S|NHSL2_ENST00000535692.1_Missense_Mutation_p.P523S			F5H593	F5H593_HUMAN	NHS-like 2	889										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCACAAGCCACCATCTGTTCC	0.547													False	0	False	X:71360063	0	T	71360063	C	T	71360063	3	4	88	1	0	0	0	0	1	0	0	0	10480	507	18	2	2687	2	NHSL2	23	71360063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	293	71360063	83910497	20575	28287											
NAP1L2	4674	broad.mit.edu	37	chrX	72434219	72434219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctccaagcccagcagcgGcatcttcaccgcgctccaga	9	18	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:72434219G>A	ENST00000373517.3	-	1	465	c.110C>T	c.(109-111)gCc>gTc	p.A37V	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	37					nucleosome assembly	chromatin assembly complex		p.A37V(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CCCAGCAGCGGCATCTTCACC	0.577													False	0	False	X:72434219	0	A	72434219	G	A	72434219	3	1	88	1	0	0	0	0	1	0	0	0	10224	1203	42	2	1276	2	NAP1L2	23	72434219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1074156	72434219	82836341	20576	28288											
CDX4	1046	broad.mit.edu	37	chrX	72667226	72667226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcctccaatttcgctgCggcaccggctttctcgcact	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:72667226C>T	ENST00000373514.2	+	1	137	c.137C>T	c.(136-138)gCg>gTg	p.A46V		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	46						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AATTTCGCTGCGGCACCGGCT	0.647													False	0	False	X:72667226	0	T	72667226	C	T	72667226	3	4	88	1	0	0	0	0	1	0	0	0	3207	768	27	1	139	1	CDX4	23	72667226	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233007	72667226	82603334	20577	28289											
KIAA2022	340533	broad.mit.edu	37	chrX	73960434	73960434	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accagaggcaatgttggacaAgatataggaaggctcctgaa	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73960434A>C	ENST00000055682.6	-	3	4569	c.3958T>G	c.(3958-3960)Ttg>Gtg	p.L1320V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATGTTGGACAAGATATAGGAA	0.527													False	0	False	X:73960434	0	C	73960434	A	C	73960434	3	2	88	1	0	0	0	0	1	0	0	0	8319	69	3	4	600	4	KIAA2022	23	73960434	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1293208	73960434	81310126	20578	28290											
KIAA2022	340533	broad.mit.edu	37	chrX	73964099	73964099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccagatgtgagggagatgGcattcacagaagcactatta	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73964099G>T	ENST00000055682.6	-	3	904	c.293C>A	c.(292-294)gCc>gAc	p.A98D		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAGGGAGATGGCATTCACAGA	0.517													False	0	False	X:73964099	0	T	73964099	G	T	73964099	3	4	88	1	0	0	0	0	1	0	0	0	8319	1203	42	3	4265	3	KIAA2022	23	73964099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3665	73964099	81306461	20579	28291											
MAGEE2	139599	broad.mit.edu	37	chrX	75004464	75004464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaataactctcaggttcaaCccaaagacctggtccaggtg	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75004464C>T	ENST00000373359.2	-	1	615	c.423G>A	c.(421-423)ggG>ggA	p.G141G		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	141	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAGGTTCAACCCAAAGACCT	0.517													False	0	True	X:75004464	0	T	75004464	C	T	75004464	2	4	88	1	0	0	0	0	0	0	0	1	9253	494	18	2		2	MAGEE2	23	75004464	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1040365	75004464	80266096	20580	28292											
MAGEE1	57692	broad.mit.edu	37	chrX	75648934	75648934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctccgtgctgcctacacCtggtgagggaccaggcacct	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75648934C>T	ENST00000361470.2	+	1	889	c.611C>T	c.(610-612)cCt>cTt	p.P204L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	204	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGCCTACACCTGGTGAGGGA	0.687													False	0	False	X:75648934	0	T	75648934	C	T	75648934	3	4	88	1	0	0	0	0	1	0	0	0	9252	681	24	2	613	2	MAGEE1	23	75648934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	644470	75648934	79621626	20581	28293											
MAGEE1	57692	broad.mit.edu	37	chrX	75650590	75650590	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagctggtgcagttatTtctgcttatggattcaacta	10	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75650590T>G	ENST00000361470.2	+	1	2545	c.2267T>G	c.(2266-2268)tTt>tGt	p.F756C		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	756	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTGCAGTTATTTCTGCTTATG	0.463													False	0	True	X:75650590	0	G	75650590	T	G	75650590	3	3	88	1	0	0	0	0	1	0	0	0	9252	1841	64	4	2269	4	MAGEE1	23	75650590	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1656	75650590	79619970	20582	28294											
ATRX	546	broad.mit.edu	37	chrX	76939224	76939224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtctaaatcttcagaagtGttggcaggttcatattgagg	11	5	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:76939224G>A	ENST00000373344.5	-	9	1738	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	ATRX_ENST00000395603.3_Silent_p.N470N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	508					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTTCAGAAGTGTTGGCAGGTT	0.378			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						False	0	False	X:76939224	0	A	76939224	G	A	76939224	2	1	88	1	0	0	0	0	0	0	0	1	1212	1368	48	2		2	ATRX	23	76939224	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1288634	76939224	78331336	20583	28295											
MAGT1	84061	broad.mit.edu	37	chrX	77131009	77131009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtggggctttcacaaggCgacggaacttgtctccattc	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77131009C>T	ENST00000358075.6	-	2	370	c.284G>A	c.(283-285)cGc>cAc	p.R95H	MAGT1_ENST00000373336.3_Missense_Mutation_p.R63H	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	63					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TTTCACAAGGCGACGGAACTT	0.418													False	0	False	X:77131009	0	T	77131009	C	T	77131009	3	4	88	1	0	0	0	0	1	0	0	0	9263	768	27	1	855	1	MAGT1	23	77131009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191785	77131009	78139551	20584	28296											
ATP7A	538	broad.mit.edu	37	chrX	77244750	77244750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccctggacaatcaagaagCtactattgtttatcaacctc	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77244750C>A	ENST00000341514.6	+	4	787	c.632C>A	c.(631-633)gCt>gAt	p.A211D	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.A211D	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	211	HMA 2.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AATCAAGAAGCTACTATTGTT	0.338													False	0	False	X:77244750	0	A	77244750	C	A	77244750	3	1	88	1	0	0	0	0	1	0	0	0	1194	797	28	3	642	3	ATP7A	23	77244750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113741	77244750	78025810	20585	28297											
ATP7A	538	broad.mit.edu	37	chrX	77289223	77289223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaataactggaatatagagGacaataatattaaaaatgca	7	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77289223G>T	ENST00000341514.6	+	17	3570	c.3415G>T	c.(3415-3417)Gac>Tac	p.D1139Y	ATP7A_ENST00000350425.4_Missense_Mutation_p.D142Y|ATP7A_ENST00000343533.5_Missense_Mutation_p.D1061Y	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1139					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GAATATAGAGGACAATAATAT	0.388													False	0	False	X:77289223	0	T	77289223	G	T	77289223	3	4	88	1	0	0	0	0	1	0	0	0	1194	1174	41	3	3477	3	ATP7A	23	77289223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44473	77289223	77981337	20586	28298											
PGK1	5230	broad.mit.edu	37	chrX	77369532	77369532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggatgttctgttcttgaagGactgtgtaggcccagaagtg	15	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77369532G>T	ENST00000373316.4	+	4	459	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Missense_Mutation_p.D70Y	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	98					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GTTCTTGAAGGACTGTGTAGG	0.502													False	0	False	X:77369532	0	T	77369532	G	T	77369532	3	4	88	1	0	0	0	0	1	0	0	0	11859	1174	41	3	306	3	PGK1	23	77369532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80309	77369532	77901028	20587	28299											
PGK1	5230	broad.mit.edu	37	chrX	77369650	77369650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggaaaagatgcttctgGgaacaaggtaggacctgtga	15	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77369650G>A	ENST00000373316.4	+	4	577	c.410G>A	c.(409-411)gGg>gAg	p.G137E	PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Missense_Mutation_p.G109E	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	137					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GATGCTTCTGGGAACAAGGTA	0.483													False	0	True	X:77369650	0	A	77369650	G	A	77369650	3	1	88	1	0	0	0	0	1	0	0	0	11859	1232	43	2	424	2	PGK1	23	77369650	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	77369650	77900910	20588	28300											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913260	77913260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggaaactctgaagctgCtgatgtctccacaactatta	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77913260C>T	ENST00000321110.1	-	2	953	c.658G>A	c.(658-660)Gca>Aca	p.A220T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	220							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCTGAAGCTGCTGATGTCTCC	0.522													False	0	False	X:77913260	0	T	77913260	C	T	77913260	3	4	88	1	0	0	0	0	1	0	0	0	17674	797	28	2	773	2	ZCCHC5	23	77913260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	543610	77913260	77357300	20589	28301											
LPAR4	2846	broad.mit.edu	37	chrX	78010530	78010530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtattcatcttgggtctgaTaaccaacagtgtctctctgt	8	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:78010530T>C	ENST00000435339.3	+	2	550	c.164T>C	c.(163-165)aTa>aCa	p.I55T		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTGGGTCTGATAACCAACAGT	0.383													False	0	False	X:78010530	0	C	78010530	T	C	78010530	3	2	88	1	0	0	0	0	1	0	0	0	8969	1406	49	4	166	4	LPAR4	23	78010530	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97270	78010530	77260030	20590	28302											
LPAR4	2846	broad.mit.edu	37	chrX	78010800	78010800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccattgtctatccttttcGatctcgtactattaggacta	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:78010800G>A	ENST00000435339.3	+	2	820	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.R145Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATCCTTTTCGATCTCGTACT	0.463													False	0	False	X:78010800	0	A	78010800	G	A	78010800	3	1	88	1	0	0	0	0	1	0	0	0	8969	1058	37	1	436	1	LPAR4	23	78010800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270	78010800	77259760	20591	28303											
TBX22	50945	broad.mit.edu	37	chrX	79286360	79286360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtatctacaagcacctaAttctaccaatcaaatgttat	3	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79286360A>G	ENST00000442340.1	+	9	1443	c.953A>G	c.(952-954)aAt>aGt	p.N318S	TBX22_ENST00000373291.1_Missense_Mutation_p.N318S|TBX22_ENST00000373294.5_Missense_Mutation_p.N438S|TBX22_ENST00000373296.3_Missense_Mutation_p.N438S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	438					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAAGCACCTAATTCTACCAAT	0.428													False	0	False	X:79286360	0	G	79286360	A	G	79286360	3	3	88	1	0	0	0	0	1	0	0	0	15740	101	4	4	1343	4	TBX22	23	79286360	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1275560	79286360	75984200	20592	28304											
FAM46D	169966	broad.mit.edu	37	chrX	79699097	79699097	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttttatcagcctgctccGtactttgcagctgaggcaag	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79699097G>A	ENST00000538312.1	+	5	1393	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	FAM46D_ENST00000308293.5_Silent_p.P353P	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	353										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGCCTGCTCCGTACTTTGCAG	0.453													False	0	False	X:79699097	0	A	79699097	G	A	79699097	2	1	88	1	0	0	0	0	0	0	0	1	5608	1132	40	1		1	FAM46D	23	79699097	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	412737	79699097	75571463	20593	28305											
BRWD3	254065	broad.mit.edu	37	chrX	79932615	79932615	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtctccatctacgtaAtcttgatctgttctggaagt	8	9	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79932615A>C	ENST00000373275.4	-	41	5118	c.4902T>G	c.(4900-4902)gaT>gaG	p.D1634E		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1634										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATCTACGTAATCTTGATCTG	0.393													False	0	False	X:79932615	0	C	79932615	A	C	79932615	3	2	88	1	0	0	0	0	1	0	0	0	1533	98	4	4	510	4	BRWD3	23	79932615	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	233518	79932615	75337945	20594	28306											
BRWD3	254065	broad.mit.edu	37	chrX	79932771	79932771	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcctcccatgttttcAtcttcttctgatgcactaag	4	13	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79932771A>C	ENST00000373275.4	-	41	4962	c.4746T>G	c.(4744-4746)gaT>gaG	p.D1582E	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1582										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ccatgttttcatcttcttctG	0.403													False	0	True	X:79932771	0	C	79932771	A	C	79932771	3	2	88	1	0	0	0	0	1	0	0	0	1533	214	8	4	666	4	BRWD3	23	79932771	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	156	79932771	75337789	20595	28307											
BRWD3	254065	broad.mit.edu	37	chrX	79945476	79945476	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttcttacccaataaatcGaagtaagacatcagttacaa	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79945476G>A	ENST00000373275.4	-	32	3934	c.3718C>T	c.(3718-3720)Cga>Tga	p.R1240*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1240								p.R1240*(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCAATAAATCGAAGTAAGACA	0.299													False	0	False	X:79945476	0	A	79945476	G	A	79945476	4	1	88	1	0	0	0	0	0	1	0	0	1533	1066	37	1	1730	1	BRWD3	23	79945476	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12705	79945476	75325084	20596	28308											
BRWD3	254065	broad.mit.edu	37	chrX	79979292	79979292	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaaaaagcagcaaatgTccatgagaatctgtgcaggc	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79979292T>C	ENST00000373275.4	-	16	1821	c.1605A>G	c.(1603-1605)ggA>ggG	p.G535G		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	535										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCAGCAAATGTCCATGAGAAT	0.373													False	0	False	X:79979292	0	C	79979292	T	C	79979292	2	2	88	1	0	0	0	0	0	0	0	1	1533	1654	58	4		4	BRWD3	23	79979292	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33816	79979292	75291268	20597	28309											
CYLC1	1538	broad.mit.edu	37	chrX	83128385	83128385	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaatccaaagaaagaTttgaagaggtcaaagactag	9	5	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83128385T>G	ENST00000329312.4	+	4	706	c.669T>G	c.(667-669)gaT>gaG	p.D223E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	223					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAAAGAAAGATTTGAAGAGGT	0.328													False	0	True	X:83128385	0	G	83128385	T	G	83128385	3	3	88	1	0	0	0	0	1	0	0	0	4166	1490	52	4	683	4	CYLC1	23	83128385	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3149093	83128385	72142175	20598	28310											
CYLC1	1538	broad.mit.edu	37	chrX	83128818	83128818	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggacacaaagaagtacccaGagtctactgatactgaatca	8	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83128818G>A	ENST00000329312.4	+	4	1139	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	368					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						gaaGTACCCAGAGTCTACTGA	0.343													False	0	False	X:83128818	0	A	83128818	G	A	83128818	3	1	88	1	0	0	0	0	1	0	0	0	4166	943	33	2	1116	2	CYLC1	23	83128818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	433	83128818	72141742	20599	28311											
CYLC1	1538	broad.mit.edu	37	chrX	83129557	83129557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accactccctgcttgtgagcCttctctaccatcaccaaagg	6	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83129557C>A	ENST00000329312.4	+	4	1878	c.1841C>A	c.(1840-1842)cCt>cAt	p.P614H		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	614	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GCTTGTGAGCCTTCTCTACCA	0.433													False	0	False	X:83129557	0	A	83129557	C	A	83129557	3	1	88	1	0	0	0	0	1	0	0	0	4166	681	24	3	1855	3	CYLC1	23	83129557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	739	83129557	72141003	20600	28312											
HDX	139324	broad.mit.edu	37	chrX	83724000	83724000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatagttggcttttgcccaCataagttatgtaatgctggg	10	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83724000C>T	ENST00000297977.5	-	3	842	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	HDX_ENST00000506585.2_Missense_Mutation_p.C186Y|HDX_ENST00000373177.2_Missense_Mutation_p.C244Y	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	244						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTTTTGCCCACATAAGTTATG	0.428													False	0	False	X:83724000	0	T	83724000	C	T	83724000	3	4	88	1	0	0	0	0	1	0	0	0	7073	478	17	2	1373	2	HDX	23	83724000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	594443	83724000	71546560	20601	28313											
HDX	139324	broad.mit.edu	37	chrX	83724135	83724135	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcttgtactgaagagTttccatagtttttctttgcg	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83724135T>G	ENST00000297977.5	-	3	707	c.596A>C	c.(595-597)aAc>aCc	p.N199T	HDX_ENST00000506585.2_Missense_Mutation_p.N141T|HDX_ENST00000373177.2_Missense_Mutation_p.N199T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TACTGAAGAGTTTCCATAGTT	0.388													False	0	True	X:83724135	0	G	83724135	T	G	83724135	3	3	88	1	0	0	0	0	1	0	0	0	7073	1725	60	4	1508	4	HDX	23	83724135	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135	83724135	71546425	20602	28314											
SATL1	340562	broad.mit.edu	37	chrX	84363222	84363222	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttggaatctgataaactTgattggtttgcgtctggttg	13	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:84363222T>C	ENST00000509231.1	-	1	832	c.753A>G	c.(751-753)tcA>tcG	p.S251S	SATL1_ENST00000395409.3_Silent_p.S64S|SATL1_ENST00000332921.5_Silent_p.S64S			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	64	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGATAAACTTGATTGGTTTG	0.463													False	0	False	X:84363222	0	C	84363222	T	C	84363222	2	2	88	1	0	0	0	0	0	0	0	1	13935	1799	63	4		4	SATL1	23	84363222	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	639087	84363222	70907338	20603	28315											
DACH2	117154	broad.mit.edu	37	chrX	85950138	85950138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccaggcattgggggtgCtccaaccctcaatccactgc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:85950138C>T	ENST00000373131.1	+	4	1011	c.848C>T	c.(847-849)gCt>gTt	p.A283V	DACH2_ENST00000508860.1_Missense_Mutation_p.A129V|DACH2_ENST00000373125.4_Missense_Mutation_p.A296V|DACH2_ENST00000510272.1_Missense_Mutation_p.A77V	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATTGGGGGTGCTCCAACCCTC	0.498													False	0	False	X:85950138	0	T	85950138	C	T	85950138	3	4	88	1	0	0	0	0	1	0	0	0	4246	797	28	2	905	2	DACH2	23	85950138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1586916	85950138	69320422	20604	28316											
DACH2	117154	broad.mit.edu	37	chrX	85969592	85969592	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgatgcctcatcccctacttCcagtcagcttacctcctgca	5	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:85969592C>A	ENST00000373131.1	+	5	1097	c.934C>A	c.(934-936)Cca>Aca	p.P312T	DACH2_ENST00000508860.1_Missense_Mutation_p.P158T|DACH2_ENST00000373125.4_Missense_Mutation_p.P325T|DACH2_ENST00000510272.1_Missense_Mutation_p.P106T	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TCCCCTACTTCCAGTCAGCTT	0.413													False	0	False	X:85969592	0	A	85969592	C	A	85969592	3	1	88	1	0	0	0	0	1	0	0	0	4246	855	30	3	995	3	DACH2	23	85969592	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19454	85969592	69300968	20605	28317											
CPXCR1	53336	broad.mit.edu	37	chrX	88008738	88008738	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcacaagcccttaaatgAtagatcaagatcccactcag	5	13	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:88008738A>C	ENST00000276127.4	+	3	582	c.323A>C	c.(322-324)gAt>gCt	p.D108A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D108A	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	108						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCCTTAAATGATAGATCAAGA	0.403													False	0	False	X:88008738	0	C	88008738	A	C	88008738	3	2	88	1	0	0	0	0	1	0	0	0	3859	333	12	4	325	4	CPXCR1	23	88008738	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2039146	88008738	67261822	20606	28318											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177650	89177650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcaccggaatagcccagcCgaagaaaaaggtcaaggttt	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:89177650C>T	ENST00000561129.2	+	1	696	c.566C>T	c.(565-567)cCg>cTg	p.P189L	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P189L			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	189						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATAGCCCAGCCGAAGAAAAAG	0.572													False	0	False	X:89177650	0	T	89177650	C	T	89177650	3	4	88	1	0	0	0	0	1	0	0	0	15909	652	23	1	568	1	TGIF2LX	23	89177650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1168912	89177650	66092910	20607	28319											
PABPC5	140886	broad.mit.edu	37	chrX	90691094	90691094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtgcggctcaacaaccGccaggtgtatgttggcagat	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:90691094G>A	ENST00000312600.3	+	2	732	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PABPC5_ENST00000373105.1_Missense_Mutation_p.R9H	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	173	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTCAACAACCGCCAGGTGTAT	0.498													False	0	False	X:90691094	0	A	90691094	G	A	90691094	3	1	88	1	0	0	0	0	1	0	0	0	11435	1087	38	1	520	1	PABPC5	23	90691094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1513444	90691094	64579466	20608	28320											
PCDH11X	27328	broad.mit.edu	37	chrX	91090729	91090729	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggagatgtgccactgattCgaattgaagaggatactggt	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91090729C>T	ENST00000373094.1	+	1	1071	c.226C>T	c.(226-228)Cga>Tga	p.R76*	PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	76	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCACTGATTCGAATTGAAGA	0.443													False	0	False	X:91090729	0	T	91090729	C	T	91090729	4	4	88	1	0	0	0	0	0	1	0	0	11576	876	31	1	228	1	PCDH11X	23	91090729	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399635	91090729	64179831	20609	28321											
PCDH11X	27328	broad.mit.edu	37	chrX	91090959	91090959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcaattccagagaactcGgctataaactctaaatatac	4	9	2	1	rs148082586		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91090959G>A	ENST00000373094.1	+	1	1301	c.456G>A	c.(454-456)tcG>tcA	p.S152S	PCDH11X_ENST00000373097.1_Silent_p.S152S|PCDH11X_ENST00000298274.8_Silent_p.S152S|PCDH11X_ENST00000395337.2_Silent_p.S152S|PCDH11X_ENST00000373088.1_Silent_p.S152S|PCDH11X_ENST00000361655.2_Silent_p.S152S|PCDH11X_ENST00000504220.2_Silent_p.S152S|PCDH11X_ENST00000406881.1_Silent_p.S152S|PCDH11X_ENST00000361724.1_Silent_p.S152S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	152	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGAGAACTCGGCTATAAACT	0.358													False	0	False	X:91090959	0	A	91090959	G	A	91090959	2	1	88	1	0	0	0	0	0	0	0	1	11576	1103	39	1		1	PCDH11X	23	91090959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230	91090959	64179601	20610	28322											
PCDH11X	27328	broad.mit.edu	37	chrX	91133466	91133466	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggagaaatgtgatgttacaGaccttggtttacacagagtg	12	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91133466G>A	ENST00000373094.1	+	2	3072	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	PCDH11X_ENST00000373097.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D743N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D743N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	743	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGATGTTACAGACCTTGGTTT	0.413													False	0	False	X:91133466	0	A	91133466	G	A	91133466	3	1	88	1	0	0	0	0	1	0	0	0	11576	942	33	2	2233	2	PCDH11X	23	91133466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42507	91133466	64137094	20611	28323											
PCDH11X	27328	broad.mit.edu	37	chrX	91873534	91873534	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtgccacagcccaccaccGatacaggtgtctgctctcca	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91873534G>A	ENST00000373094.1	+	7	4484	c.3639G>A	c.(3637-3639)ccG>ccA	p.P1213P	PCDH11X_ENST00000373097.1_Silent_p.P1203P|PCDH11X_ENST00000298274.8_Silent_p.P1176P|PCDH11X_ENST00000373088.1_Silent_p.P1176P|PCDH11X_ENST00000361655.2_Silent_p.P1195P|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Silent_p.P1205P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1213					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCCACCACCGATACAGGTGT	0.597													False	0	False	X:91873534	0	A	91873534	G	A	91873534	2	1	88	1	0	0	0	0	0	0	0	1	11576	1045	37	1		1	PCDH11X	23	91873534	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	740068	91873534	63397026	20612	28324											
DIAPH2	1730	broad.mit.edu	37	chrX	96603171	96603171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccaccatgcacaacaaCatgatgaagctctatgagaa	6	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:96603171C>T	ENST00000324765.8	+	24	3248	c.2901C>T	c.(2899-2901)aaC>aaT	p.N967N	DIAPH2_ENST00000373049.4_Silent_p.N967N|DIAPH2_ENST00000373061.3_Silent_p.N967N|DIAPH2_ENST00000355827.4_Silent_p.N967N|DIAPH2_ENST00000373054.4_Silent_p.N963N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	967	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TGCACAACAACATGATGAAGC	0.388													False	0	True	X:96603171	0	T	96603171	C	T	96603171	2	4	88	1	0	0	0	0	0	0	0	1	4549	477	17	2		2	DIAPH2	23	96603171	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4729637	96603171	58667389	20613	28325											
PCDH19	57526	broad.mit.edu	37	chrX	99657821	99657821	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcttgcttgatttctTttgatgcccataggagtact	7	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99657821T>G	ENST00000373034.4	-	3	3992	c.2317A>C	c.(2317-2319)Aag>Cag	p.K773Q	PCDH19_ENST00000255531.7_Missense_Mutation_p.K726Q|PCDH19_ENST00000420881.2_Missense_Mutation_p.K726Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	773					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTTGATTTCTTTTGATGCCCA	0.423													False	0	True	X:99657821	0	G	99657821	T	G	99657821	3	3	88	1	0	0	0	0	1	0	0	0	11582	1850	64	4	1145	4	PCDH19	23	99657821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3054650	99657821	55612739	20614	28326											
PCDH19	57526	broad.mit.edu	37	chrX	99661460	99661460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctttacctgcagttgtaGgtccggatctctttgttgtc	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99661460G>A	ENST00000373034.4	-	1	3811	c.2136C>T	c.(2134-2136)acC>acT	p.T712T	PCDH19_ENST00000255531.7_Silent_p.T712T|PCDH19_ENST00000420881.2_Silent_p.T712T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	712					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGCAGTTGTAGGTCCGGATCT	0.428													False	0	False	X:99661460	0	A	99661460	G	A	99661460	2	1	88	1	0	0	0	0	0	0	0	1	11582	987	35	2		2	PCDH19	23	99661460	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3639	99661460	55609100	20615	28327											
PCDH19	57526	broad.mit.edu	37	chrX	99661672	99661672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggtcgtgagccaccaCgataagctcataggaggact	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99661672C>T	ENST00000373034.4	-	1	3599	c.1924G>A	c.(1924-1926)Gtg>Atg	p.V642M	PCDH19_ENST00000255531.7_Missense_Mutation_p.V642M|PCDH19_ENST00000420881.2_Missense_Mutation_p.V642M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	642	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGAGCCACCACGATAAGCTCA	0.567													False	0	False	X:99661672	0	T	99661672	C	T	99661672	3	4	88	1	0	0	0	0	1	0	0	0	11582	536	19	1	1546	1	PCDH19	23	99661672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212	99661672	55608888	20616	28328											
PCDH19	57526	broad.mit.edu	37	chrX	99662630	99662630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccgggatggaattgggCcccaagtccttagcctgcac	13	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99662630C>T	ENST00000373034.4	-	1	2641	c.966G>A	c.(964-966)ggG>ggA	p.G322G	PCDH19_ENST00000255531.7_Silent_p.G322G|PCDH19_ENST00000420881.2_Silent_p.G322G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	322	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGGAATTGGGCCCCAAGTCCT	0.577													False	0	True	X:99662630	0	T	99662630	C	T	99662630	2	4	88	1	0	0	0	0	0	0	0	1	11582	726	26	2		2	PCDH19	23	99662630	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	958	99662630	55607930	20617	28329											
NOX1	27035	broad.mit.edu	37	chrX	100104325	100104325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttagaaaacccactttgcCtaattcctccatctcctgtt	4	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100104325C>A	ENST00000372966.3	-	11	1592	c.1387G>T	c.(1387-1389)Ggc>Tgc	p.G463C	NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.G426C	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	463	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CCCACTTTGCCTAATTCCTCC	0.448													False	0	False	X:100104325	0	A	100104325	C	A	100104325	3	1	88	1	0	0	0	0	1	0	0	0	10624	681	24	3	319	3	NOX1	23	100104325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441695	100104325	55166235	20618	28330											
NOX1	27035	broad.mit.edu	37	chrX	100117559	100117559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaatgtcacatactccaCtgtctgtgaaaggagaaatg	11	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100117559C>T	ENST00000372966.3	-	6	698	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	NOX1_ENST00000217885.5_Missense_Mutation_p.V165M|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.V128M	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	165	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACATACTCCACTGTCTGTGAA	0.473													False	0	True	X:100117559	0	T	100117559	C	T	100117559	3	4	88	1	0	0	0	0	1	0	0	0	10624	565	20	2	1233	2	NOX1	23	100117559	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13234	100117559	55153001	20619	28331											
DRP2	1821	broad.mit.edu	37	chrX	100503249	100503249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactctgtgtggacatgaGcctcaattggctcctcaatg	10	12	3	1	rs6621017		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100503249G>A	ENST00000395209.3	+	13	1951	c.1424G>A	c.(1423-1425)aGc>aAc	p.S475N	DRP2_ENST00000402866.1_Missense_Mutation_p.S475N|DRP2_ENST00000541709.1_Missense_Mutation_p.S397N|DRP2_ENST00000538510.1_Missense_Mutation_p.S475N	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	475					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTGGACATGAGCCTCAATTGG	0.488													False	0	False	X:100503249	0	A	100503249	G	A	100503249	3	1	88	1	0	0	0	0	1	0	0	0	4794	971	34	2	1466	2	DRP2	23	100503249	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	385690	100503249	54767311	20620	28332											
BTK	695	broad.mit.edu	37	chrX	100615114	100615114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctgcttcagtgacataGttactaggaatgtagccttc	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100615114G>A	ENST00000308731.7	-	9	964	c.801C>T	c.(799-801)aaC>aaT	p.N267N	BTK_ENST00000372880.1_Silent_p.N267N	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	267	SH3.		Missing (in XLA; severe).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAGTGACATAGTTACTAGGAA	0.448									Agammaglobulinemia, X-linked				False	0	False	X:100615114	0	A	100615114	G	A	100615114	2	1	88	1	0	0	0	0	0	0	0	1	1564	1020	36	2		2	BTK	23	100615114	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111865	100615114	54655446	20621	28333											
BTK	695	broad.mit.edu	37	chrX	100630208	100630208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcttcttgaagtttagaGgtgatgttttctttttctgt	11	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100630208G>A	ENST00000308731.7	-	2	228	c.65C>T	c.(64-66)cCt>cTt	p.P22L	BTK_ENST00000372880.1_Missense_Mutation_p.P22L|BTK_ENST00000464567.1_5'UTR	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	22	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAAGTTTAGAGGTGATGTTTT	0.443									Agammaglobulinemia, X-linked				False	0	False	X:100630208	0	A	100630208	G	A	100630208	3	1	88	1	0	0	0	0	1	0	0	0	1564	1000	35	2	1986	2	BTK	23	100630208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15094	100630208	54640352	20622	28334											
ARMCX6	54470	broad.mit.edu	37	chrX	100871474	100871474	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccagctcctggtcatcgTcccactcctcttccccctcc	4	22	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100871474T>C	ENST00000539247.1	-	4	569	c.137A>G	c.(136-138)gAc>gGc	p.D46G	ARMCX6_ENST00000538627.1_Missense_Mutation_p.D46G|ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000361910.4_Missense_Mutation_p.D46G	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	46						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						ctggtcatcgtcccactcctc	0.537													False	0	True	X:100871474	0	C	100871474	T	C	100871474	3	2	88	1	0	0	0	0	1	0	0	0	967	1667	58	4	769	4	ARMCX6	23	100871474	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	241266	100871474	54399086	20623	28335											
ARMCX2	9823	broad.mit.edu	37	chrX	100911186	100911186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgtacacctgaagccgGccctgattttcataattctc	6	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100911186G>A	ENST00000328766.5	-	5	1842	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	ARMCX2_ENST00000356824.4_Silent_p.G463G|ARMCX2_ENST00000330154.2_Silent_p.G463G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	463						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCTGAAGCCGGCCCTGATTTT	0.378													False	0	True	X:100911186	0	A	100911186	G	A	100911186	2	1	88	1	0	0	0	0	0	0	0	1	964	1190	42	2		2	ARMCX2	23	100911186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39712	100911186	54359374	20624	28336											
ARMCX2	9823	broad.mit.edu	37	chrX	100911224	100911224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactcaggttattcatggCcattaaggctttttccttaa	6	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100911224C>T	ENST00000328766.5	-	5	1804	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	ARMCX2_ENST00000356824.4_Missense_Mutation_p.A451T|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A451T	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	451						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TTATTCATGGCCATTAAGGCT	0.413													False	0	False	X:100911224	0	T	100911224	C	T	100911224	3	4	88	1	0	0	0	0	1	0	0	0	964	739	26	2	551	2	ARMCX2	23	100911224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	100911224	54359336	20625	28337											
ZMAT1	84460	broad.mit.edu	37	chrX	101139427	101139427	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctcatctttctgaaacaAgtctttggatctagtcctct	5	11	7	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101139427A>C	ENST00000372782.3	-	7	1019	c.972T>G	c.(970-972)acT>acG	p.T324T	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Silent_p.T153T|ZMAT1_ENST00000540921.1_Silent_p.T324T	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	153						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCTGAAACAAGTCTTTGGAT	0.388													False	0	False	X:101139427	0	C	101139427	A	C	101139427	2	2	88	1	0	0	0	0	0	0	0	1	17774	59	3	4		4	ZMAT1	23	101139427	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	228203	101139427	54131133	20626	28338											
ZMAT1	84460	broad.mit.edu	37	chrX	101141638	101141638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttccttgcatgtgggaccGgaacatatctaaagatgtaa	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101141638G>A	ENST00000372782.3	-	6	618	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R20W|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R191W	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	20						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						ATGTGGGACCGGAACATATCT	0.348													False	0	False	X:101141638	0	A	101141638	G	A	101141638	3	1	88	1	0	0	0	0	1	0	0	0	17774	1115	39	1	1353	1	ZMAT1	23	101141638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2211	101141638	54128922	20627	28339											
ZMAT1	84460	broad.mit.edu	37	chrX	101152901	101152901	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctccattaattgcttcaGttttttagcatggacctttc	5	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101152901G>T	ENST00000372782.3	-	5	492	c.445C>A	c.(445-447)Ctg>Atg	p.L149M	ZMAT1_ENST00000458570.1_De_novo_Start_InFrame|ZMAT1_ENST00000540921.1_Missense_Mutation_p.L149M	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	446						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AATTGCTTCAGTTTTTTAGCA	0.413													False	0	True	X:101152901	0	T	101152901	G	T	101152901	3	4	88	1	0	0	0	0	1	0	0	0	17774	1020	36	3	1483	3	ZMAT1	23	101152901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11263	101152901	54117659	20628	28340											
ARMCX5	64860	broad.mit.edu	37	chrX	101857630	101857630	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgtagggtcctggttctgGcctgaagaagagacctctct	13	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101857630G>T	ENST00000604957.1	+	1	3183	c.561G>T	c.(559-561)tgG>tgT	p.W187C	RP4-769N13.6_ENST00000476910.2_RNA|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000536530.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000537008.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000372742.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000246174.2_Missense_Mutation_p.W187C	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	187							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTGGTTCTGGCCTGAAGAAG	0.458													False	0	False	X:101857630	0	T	101857630	G	T	101857630	3	4	88	1	0	0	0	0	1	0	0	0	966	1212	42	3	563	3	ARMCX5	23	101857630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704729	101857630	53412930	20629	28341											
ARMCX5	64860	broad.mit.edu	37	chrX	101857782	101857782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagttccagttgaaggagGggagcaatccttgcctccag	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101857782G>A	ENST00000604957.1	+	1	3335	c.713G>A	c.(712-714)gGg>gAg	p.G238E	RP4-769N13.6_ENST00000476910.2_RNA|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000536530.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000372742.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000246174.2_Missense_Mutation_p.G238E	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	238							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTTGAAGGAGGGGAGCAATCC	0.473													False	0	True	X:101857782	0	A	101857782	G	A	101857782	3	1	88	1	0	0	0	0	1	0	0	0	966	1232	43	2	715	2	ARMCX5	23	101857782	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152	101857782	53412778	20630	28342											
GPRASP1	9737	broad.mit.edu	37	chrX	101909574	101909574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcccaaactaaccaggagCtctatattgcatctagttct	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101909574C>T	ENST00000537097.1	+	6	1546	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	GPRASP1_ENST00000444152.1_Missense_Mutation_p.L245F|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.L245F|GPRASP1_ENST00000361600.5_Missense_Mutation_p.L245F	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	245						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAACCAGGAGCTCTATATTGC	0.458													False	0	False	X:101909574	0	T	101909574	C	T	101909574	3	4	88	1	0	0	0	0	1	0	0	0	6769	797	28	2	735	2	GPRASP1	23	101909574	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51792	101909574	53360986	20631	28343											
GPRASP1	9737	broad.mit.edu	37	chrX	101912242	101912242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcttagggccaaggagaGtacagagcctgagagttcat	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101912242G>A	ENST00000537097.1	+	6	4214	c.3401G>A	c.(3400-3402)aGt>aAt	p.S1134N	GPRASP1_ENST00000444152.1_Missense_Mutation_p.S1134N|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S1134N|GPRASP1_ENST00000361600.5_Missense_Mutation_p.S1134N	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1134	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCCAAGGAGAGTACAGAGCCT	0.433													False	0	False	X:101912242	0	A	101912242	G	A	101912242	3	1	88	1	0	0	0	0	1	0	0	0	6769	1029	36	2	3403	2	GPRASP1	23	101912242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2668	101912242	53358318	20632	28344											
GPRASP1	9737	broad.mit.edu	37	chrX	101912585	101912585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaacccttgcttatagCgtggattccccggaacagct	11	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101912585C>T	ENST00000537097.1	+	6	4557	c.3744C>T	c.(3742-3744)agC>agT	p.S1248S	GPRASP1_ENST00000444152.1_Silent_p.S1248S|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.S1248S|GPRASP1_ENST00000361600.5_Silent_p.S1248S	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1248	OPRD1-binding.					cytoplasm	protein binding	p.S1248_D1250delSVD(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGCTTATAGCGTGGATTCCC	0.408													False	0	False	X:101912585	0	T	101912585	C	T	101912585	2	4	88	1	0	0	0	0	0	0	0	1	6769	767	27	1		1	GPRASP1	23	101912585	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343	101912585	53357975	20633	28345											
GPRASP2	114928	broad.mit.edu	37	chrX	101969867	101969867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctggggaagaggttatcGctgggcctgagagagagaat	18	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101969867G>A	ENST00000543253.1	+	5	989	c.70G>A	c.(70-72)Gct>Act	p.A24T	GPRASP2_ENST00000535209.1_Missense_Mutation_p.A24T|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A24T	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGAGGTTATCGCTGGGCCTGA	0.522													False	0	False	X:101969867	0	A	101969867	G	A	101969867	3	1	88	1	0	0	0	0	1	0	0	0	6770	1087	38	1	72	1	GPRASP2	23	101969867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57282	101969867	53300693	20634	28346											
GPRASP2	114928	broad.mit.edu	37	chrX	101970438	101970438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctattccaggcccagggCcagagaggaggcctctaatg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101970438C>T	ENST00000543253.1	+	5	1560	c.641C>T	c.(640-642)gCc>gTc	p.A214V	GPRASP2_ENST00000535209.1_Missense_Mutation_p.A214V|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A214V	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGCCCAGGGCCAGAGAGGAG	0.542													False	0	True	X:101970438	0	T	101970438	C	T	101970438	3	4	88	1	0	0	0	0	1	0	0	0	6770	739	26	2	643	2	GPRASP2	23	101970438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	571	101970438	53300122	20635	28347											
GPRASP2	114928	broad.mit.edu	37	chrX	101970883	101970883	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagatcctaatactgccttGaaactcagggcccagaaaga	9	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101970883G>T	ENST00000543253.1	+	5	2005	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F	GPRASP2_ENST00000535209.1_Missense_Mutation_p.L362F|GPRASP2_ENST00000332262.5_Missense_Mutation_p.L362F	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						ATACTGCCTTGAAACTCAGGG	0.458													False	0	True	X:101970883	0	T	101970883	G	T	101970883	3	4	88	1	0	0	0	0	1	0	0	0	6770	1281	45	3	1088	3	GPRASP2	23	101970883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	445	101970883	53299677	20636	28348											
GLRA4	441509	broad.mit.edu	37	chrX	102974199	102974199	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcgatgcaggtgaatttcCctgcaaggagagaggtgagg	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:102974199C>A	ENST00000372617.4	-	7	1139	c.719G>T	c.(718-720)gGg>gTg	p.G240V		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	240						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGTGAATTTCCCTGCAAGGAG	0.552													False	0	True	X:102974199	0	A	102974199	C	A	102974199	5	1	88	1	0	0	0	0	0	0	1	0	6502	637	22	3	641	3	GLRA4	23	102974199	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1003316	102974199	52296361	20637	28349											
ESX1	80712	broad.mit.edu	37	chrX	103499510	103499510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccaatatcactgtgggtGtacccgcgaagagactccat	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:103499510G>A	ENST00000372588.4	-	1	104	c.21C>T	c.(19-21)taC>taT	p.Y7Y		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	7					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CACTGTGGGTGTACCCGCGAA	0.587													False	0	False	X:103499510	0	A	103499510	G	A	103499510	2	1	88	1	0	0	0	0	0	0	0	1	5295	1372	48	2		2	ESX1	23	103499510	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	525311	103499510	51771050	20638	28350											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104440202	104440202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatctcaagacatacatggCtttggcaggtgaaccagtcc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104440202C>T	ENST00000372582.1	+	3	884	c.128C>T	c.(127-129)gCt>gTt	p.A43V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A43V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	43	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACATACATGGCTTTGGCAGGT	0.458													False	0	True	X:104440202	0	T	104440202	C	T	104440202	3	4	88	1	0	0	0	0	1	0	0	0	7712	797	28	2	134	2	IL1RAPL2	23	104440202	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	940692	104440202	50830358	20639	28351											
TEX13A	56157	broad.mit.edu	37	chrX	104464070	104464070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatgtggctgtttcgaccGaccggagatctccctccttc	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464070G>A	ENST00000372578.3	-	3	919	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R270W|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.S269L	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGTTTCGACCGACCGGAGATC	0.537													False	0	True	X:104464070	0	A	104464070	G	A	104464070	3	1	88	1	0	0	0	0	1	0	0	0	15858	1057	37	1	427	1	TEX13A	23	104464070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23868	104464070	50806490	20640	28352											
TEX13A	56157	broad.mit.edu	37	chrX	104464394	104464394	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacccctccggcagtggccaGgcctggccaccctgccccct	10	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464394G>T	ENST00000372578.3	-	3	595	c.484C>A	c.(484-486)Ctg>Atg	p.L162M	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L162M|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.L162M	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	162						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCAGTGGCCAGGCCTGGCCAC	0.652													False	0	False	X:104464394	0	T	104464394	G	T	104464394	3	4	88	1	0	0	0	0	1	0	0	0	15858	991	35	3	751	3	TEX13A	23	104464394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	324	104464394	50806166	20641	28353											
TEX13A	56157	broad.mit.edu	37	chrX	104464816	104464816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccgtgcagccaccgcaccCtgtgcctttgtagctgtgcc	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464816C>A	ENST00000372578.3	-	2	377	c.266G>T	c.(265-267)aGg>aTg	p.R89M	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R89M|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.R89M	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	89						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCACCGCACCCTGTGCCTTTG	0.632													False	0	True	X:104464816	0	A	104464816	C	A	104464816	3	1	88	1	0	0	0	0	1	0	0	0	15858	681	24	3	973	3	TEX13A	23	104464816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	422	104464816	50805744	20642	28354											
TEX13A	56157	broad.mit.edu	37	chrX	104464827	104464827	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgcaccctgtgcctttgTagctgtgcctgcctgtgggc	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464827T>C	ENST00000372578.3	-	2	366	c.255A>G	c.(253-255)ctA>ctG	p.L85L	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Silent_p.L85L|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Silent_p.L85L	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	85						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGTGCCTTTGTAGCTGTGCCT	0.627													False	0	False	X:104464827	0	C	104464827	T	C	104464827	2	2	88	1	0	0	0	0	0	0	0	1	15858	1625	57	4		4	TEX13A	23	104464827	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11	104464827	50805733	20643	28355											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104999178	104999178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttatgtttaagacaacaaGgaatatgatgcctatctctc	6	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104999178G>T	ENST00000372582.1	+	10	1956	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K400N|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	400	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGACAACAAGGAATATGATG	0.383													False	0	False	X:104999178	0	T	104999178	G	T	104999178	3	4	88	1	0	0	0	0	1	0	0	0	7712	991	35	3	1234	3	IL1RAPL2	23	104999178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	534351	104999178	50271382	20644	28356											
NRK	203447	broad.mit.edu	37	chrX	105179162	105179162	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccccttacatctttgcagTatacgctggattcgtagaag	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105179162T>C	ENST00000428173.2	+	21	3806	c.3503T>C	c.(3502-3504)tTa>tCa	p.L1168S	NRK_ENST00000243300.9_Splice_Site_p.L1167S			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1167							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATCTTTGCAGTATACGCTGGA	0.388										HNSCC(51;0.14)			False	0	False	X:105179162	0	C	105179162	T	C	105179162	5	2	88	1	0	0	0	0	0	0	1	0	10723	1652	57	4	3582	4	NRK	23	105179162	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	179984	105179162	50091398	20645	28357											
NRK	203447	broad.mit.edu	37	chrX	105187998	105187998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattcacctttatgcatggGcaccaaagtcctttgatgaa	7	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105187998G>A	ENST00000428173.2	+	24	4330	c.4027G>A	c.(4027-4029)Gca>Aca	p.A1343T	NRK_ENST00000243300.9_Missense_Mutation_p.A1342T			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1342	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTATGCATGGGCACCAAAGTC	0.318										HNSCC(51;0.14)			False	0	True	X:105187998	0	A	105187998	G	A	105187998	3	1	88	1	0	0	0	0	1	0	0	0	10723	1203	42	2	4118	2	NRK	23	105187998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8836	105187998	50082562	20646	28358											
NRK	203447	broad.mit.edu	37	chrX	105189929	105189929	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcaagcctatatacgaatActggcaaaaatacaggcagc	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105189929A>G	ENST00000428173.2	+	25	4431	c.4128A>G	c.(4126-4128)atA>atG	p.I1376M	NRK_ENST00000243300.9_Missense_Mutation_p.I1375M			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1375	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATATACGAATACTGGCAAAAA	0.443										HNSCC(51;0.14)			False	0	False	X:105189929	0	G	105189929	A	G	105189929	3	3	88	1	0	0	0	0	1	0	0	0	10723	381	14	4	4223	4	NRK	23	105189929	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1931	105189929	50080631	20647	28359											
SERPINA7	6906	broad.mit.edu	37	chrX	105279214	105279214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtgccagagcattcttgCtgtagtccatttgcagaact	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105279214C>T	ENST00000327674.4	-	2	1120	c.785G>A	c.(784-786)aGc>aAc	p.S262N	SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.S262N			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	262					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGCATTCTTGCTGTAGTCCAT	0.463													False	0	False	X:105279214	0	T	105279214	C	T	105279214	3	4	88	1	0	0	0	0	1	0	0	0	14175	797	28	2	474	2	SERPINA7	23	105279214	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89285	105279214	49991346	20648	28360											
SERPINA7	6906	broad.mit.edu	37	chrX	105280503	105280503	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattagacccacaactttccCtttggtttgcatctccacat	4	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105280503C>A	ENST00000327674.4	-	1	882	c.547G>T	c.(547-549)Ggg>Tgg	p.G183W	SERPINA7_ENST00000372563.1_Missense_Mutation_p.G183W			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	183					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	ACAACTTTCCCTTTGGTTTGC	0.408													False	0	True	X:105280503	0	A	105280503	C	A	105280503	3	1	88	1	0	0	0	0	1	0	0	0	14175	681	24	3	716	3	SERPINA7	23	105280503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1289	105280503	49990057	20649	28361											
SERPINA7	6906	broad.mit.edu	37	chrX	105280711	105280711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtgaacagatcagatgCtggaagccatgctggatctc	11	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105280711C>T	ENST00000327674.4	-	1	674	c.339G>A	c.(337-339)caG>caA	p.Q113Q	SERPINA7_ENST00000372563.1_Silent_p.Q113Q			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	113					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGATCAGATGCTGGAAGCCAT	0.478													False	0	False	X:105280711	0	T	105280711	C	T	105280711	2	4	88	1	0	0	0	0	0	0	0	1	14175	796	28	2		2	SERPINA7	23	105280711	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208	105280711	49989849	20650	28362											
RNF128	79589	broad.mit.edu	37	chrX	106016155	106016155	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttacaggtgcagtagacaTtgttgcaatcatgatcggca	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106016155T>G	ENST00000255499.2	+	2	747	c.497T>G	c.(496-498)aTt>aGt	p.I166S	RNF128_ENST00000324342.3_Missense_Mutation_p.I140S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	166	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GCAGTAGACATTGTTGCAATC	0.328													False	0	False	X:106016155	0	G	106016155	T	G	106016155	3	3	88	1	0	0	0	0	1	0	0	0	13515	1493	52	4	913	4	RNF128	23	106016155	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	735444	106016155	49254405	20651	28363											
RNF128	79589	broad.mit.edu	37	chrX	106016311	106016311	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgtccttttttattaTtacggcggcaactgtgggct	10	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106016311T>G	ENST00000255499.2	+	2	903	c.653T>G	c.(652-654)aTt>aGt	p.I218S	RNF128_ENST00000324342.3_Missense_Mutation_p.I192S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	218						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTTTTTATTATTACGGCGGCA	0.408													False	0	True	X:106016311	0	G	106016311	T	G	106016311	3	3	88	1	0	0	0	0	1	0	0	0	13515	1493	52	4	1069	4	RNF128	23	106016311	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156	106016311	49254249	20652	28364											
MORC4	79710	broad.mit.edu	37	chrX	106236586	106236586	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatacatctggatctacaGcattatctgcaaaaggtaga	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106236586G>T	ENST00000535534.1	-	0	456				MORC4_ENST00000355610.4_Missense_Mutation_p.A61D|MORC4_ENST00000255495.7_Missense_Mutation_p.A61D			Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4								ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TGGATCTACAGCATTATCTGC	0.393													False	0	False	X:106236586	0	T	106236586	G	T	106236586	1	4	88	1	0	0	0	0	0	0	0	0	9771	971	34	3		3	MORC4	23	106236586	Translation_Start_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220275	106236586	49033974	20653	28365											
TSC22D3	1831	broad.mit.edu	37	chrX	106957916	106957916	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctccaccagctctcggaTctgctccttcaggatctcca	6	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106957916T>G	ENST00000372383.4	-	3	803	c.436A>C	c.(436-438)Atc>Ctc	p.I146L	TSC22D3_ENST00000315660.4_Missense_Mutation_p.I146L|TSC22D3_ENST00000514426.1_Missense_Mutation_p.I78L|TSC22D3_ENST00000372390.4_Missense_Mutation_p.I23L|TSC22D3_ENST00000506081.1_Missense_Mutation_p.I146L|TSC22D3_ENST00000372397.2_Missense_Mutation_p.I80L|TSC22D3_ENST00000372384.2_Missense_Mutation_p.I146L|TSC22D3_ENST00000372382.4_Missense_Mutation_p.I56L	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	80							sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						AGCTCTCGGATCTGCTCCTTC	0.517													False	0	False	X:106957916	0	G	106957916	T	G	106957916	3	3	88	1	0	0	0	0	1	0	0	0	16692	1435	50	4	170	4	TSC22D3	23	106957916	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	721330	106957916	48312644	20654	28366											
MID2	11043	broad.mit.edu	37	chrX	107084366	107084366	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaaacatgcatcacctgTgaggtctcctactgtgaccg	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107084366T>C	ENST00000262843.6	+	2	1019	c.471T>C	c.(469-471)tgT>tgC	p.C157C	MID2_ENST00000443968.2_Silent_p.C157C	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	157						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GCATCACCTGTGAGGTCTCCT	0.567													False	0	False	X:107084366	0	C	107084366	T	C	107084366	2	2	88	1	0	0	0	0	0	0	0	1	9645	1702	59	4		4	MID2	23	107084366	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126450	107084366	48186194	20655	28367											
MID2	11043	broad.mit.edu	37	chrX	107160956	107160956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaagctgctcaagattggcCggggcgccacgaggcaagtg	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107160956C>T	ENST00000262843.6	+	7	1970	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Intron	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	474	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CAAGATTGGCCGGGGCGCCAC	0.483													False	0	True	X:107160956	0	T	107160956	C	T	107160956	2	4	88	1	0	0	0	0	0	0	0	1	9645	639	23	1		1	MID2	23	107160956	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76590	107160956	48109604	20656	28368											
MID2	11043	broad.mit.edu	37	chrX	107167644	107167644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accattacacagtgcatggaCtccagagcgggactcgctac	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107167644C>T	ENST00000262843.6	+	8	2055	c.1507C>T	c.(1507-1509)Ctc>Ttc	p.L503F	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.L473F	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	503	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGTGCATGGACTCCAGAGCGG	0.458													False	0	False	X:107167644	0	T	107167644	C	T	107167644	3	4	88	1	0	0	0	0	1	0	0	0	9645	565	20	2	1537	2	MID2	23	107167644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6688	107167644	48102916	20657	28369											
TEX13B	0	broad.mit.edu	37	chrX	107224738	107224738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatcccctccggcagtggCcaggcctggaaacactgtag	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107224738C>T	ENST00000302917.1	-	3	603	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	171										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCGGCAGTGGCCAGGCCTGGA	0.617													False	0	False	X:107224738	0	T	107224738	C	T	107224738	3	4	88	1	0	0	0	0	1	0	0	0	15859	739	26	2	431	2	TEX13B	23	107224738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57094	107224738	48045822	20658	28370											
TEX13B	0	broad.mit.edu	37	chrX	107225187	107225187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacctcgctgggcacctcGctgtcctccaggatggccct	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107225187G>A	ENST00000302917.1	-	2	263	c.171C>T	c.(169-171)agC>agT	p.S57S		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	57								p.S57S(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TGGGCACCTCGCTGTCCTCCA	0.602													False	0	False	X:107225187	0	A	107225187	G	A	107225187	2	1	88	1	0	0	0	0	0	0	0	1	15859	1078	38	1		1	TEX13B	23	107225187	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	449	107225187	48045373	20659	28371											
COL4A6	1288	broad.mit.edu	37	chrX	107418934	107418934	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggtcccatttttccagttGatcctggaattccttttaat	6	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107418934G>A	ENST00000394872.2	-	29	3014	c.2783C>T	c.(2782-2784)tCa>tTa	p.S928L	COL4A6_ENST00000372216.4_Missense_Mutation_p.S928L|COL4A6_ENST00000538570.1_Missense_Mutation_p.S927L|COL4A6_ENST00000334504.7_Missense_Mutation_p.S927L|COL4A6_ENST00000545689.1_Missense_Mutation_p.S927L			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	928	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTTTCCAGTTGATCCTGGAAT	0.468									Alport syndrome with Diffuse Leiomyomatosis				False	0	False	X:107418934	0	A	107418934	G	A	107418934	3	1	88	1	0	0	0	0	1	0	0	0	3718	1294	45	2	2360	2	COL4A6	23	107418934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193747	107418934	47851626	20660	28372											
COL4A6	1288	broad.mit.edu	37	chrX	107423784	107423784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaatcctggactccctgGctctcctttacttccacttg	5	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107423784G>A	ENST00000394872.2	-	25	2326	c.2095C>T	c.(2095-2097)Cca>Tca	p.P699S	COL4A6_ENST00000372216.4_Missense_Mutation_p.P699S|COL4A6_ENST00000538570.1_Missense_Mutation_p.P698S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P698S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P698S			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	699	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGACTCCCTGGCTCTCCTTTA	0.517									Alport syndrome with Diffuse Leiomyomatosis				False	0	False	X:107423784	0	A	107423784	G	A	107423784	3	1	88	1	0	0	0	0	1	0	0	0	3718	1203	42	2	3064	2	COL4A6	23	107423784	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4850	107423784	47846776	20661	28373											
COL4A6	1288	broad.mit.edu	37	chrX	107434631	107434631	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagtaacttactaggtgggCctggtggacctggtgggcct	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107434631C>A	ENST00000394872.2	-	19	1547	c.1316G>T	c.(1315-1317)gGc>gTc	p.G439V	COL4A6_ENST00000372216.4_Missense_Mutation_p.G439V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G438V|COL4A6_ENST00000334504.7_Missense_Mutation_p.G438V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G438V			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	439	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACTAGGTGGGCCTGGTGGACC	0.542									Alport syndrome with Diffuse Leiomyomatosis				False	0	True	X:107434631	0	A	107434631	C	A	107434631	3	1	88	1	0	0	0	0	1	0	0	0	3718	739	26	3	3867	3	COL4A6	23	107434631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10847	107434631	47835929	20662	28374											
COL4A5	1287	broad.mit.edu	37	chrX	107936017	107936017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcgctttagtaccatgcCtttcatgttctgcaacatca	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107936017C>A	ENST00000328300.6	+	50	4812	c.4568C>A	c.(4567-4569)cCt>cAt	p.P1523H	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1517H	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1517	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGTACCATGCCTTTCATGTTC	0.438									Alport syndrome with Diffuse Leiomyomatosis				False	0	True	X:107936017	0	A	107936017	C	A	107936017	3	1	88	1	0	0	0	0	1	0	0	0	3717	681	24	3	4751	3	COL4A5	23	107936017	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	501386	107936017	47334543	20663	28375											
IRS4	8471	broad.mit.edu	37	chrX	107978100	107978100	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccatttcctgagccccaaTtgttcataggcatgtagtca	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107978100T>A	ENST00000372129.2	-	1	1551	c.1475A>T	c.(1474-1476)aAt>aTt	p.N492I		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	492						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGAGCCCCAATTGTTCATAGG	0.572													False	0	False	X:107978100	0	A	107978100	T	A	107978100	3	1	88	1	0	0	0	0	1	0	0	0	7892	1493	52	5	2302	5	IRS4	23	107978100	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42083	107978100	47292460	20664	28376											
IRS4	8471	broad.mit.edu	37	chrX	107979104	107979104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttgcatctgctcgctgGctcacggaaaagcactggta	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107979104G>A	ENST00000372129.2	-	1	547	c.471C>T	c.(469-471)agC>agT	p.S157S		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	157	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGCTCGCTGGCTCACGGAAA	0.637													False	0	False	X:107979104	0	A	107979104	G	A	107979104	2	1	88	1	0	0	0	0	0	0	0	1	7892	1194	42	2		2	IRS4	23	107979104	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1004	107979104	47291456	20665	28377											
IRS4	8471	broad.mit.edu	37	chrX	107979287	107979287	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtctcgagtttgagcacGaagtagcgcctgtgcccatg	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107979287G>A	ENST00000372129.2	-	1	364	c.288C>T	c.(286-288)ttC>ttT	p.F96F	RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	96	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTGAGCACGAAGTAGCGCC	0.627													False	0	False	X:107979287	0	A	107979287	G	A	107979287	2	1	88	1	0	0	0	0	0	0	0	1	7892	1049	37	1		1	IRS4	23	107979287	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183	107979287	47291273	20666	28378											
GUCY2F	2986	broad.mit.edu	37	chrX	108628419	108628419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattaggtactcacgtaagcCtgtagattccatccgagaag	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:108628419C>A	ENST00000218006.2	-	16	3340	c.3049G>T	c.(3049-3051)Ggc>Tgc	p.G1017C		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1017					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCACGTAAGCCTGTAGATTCC	0.493													False	0	False	X:108628419	0	A	108628419	C	A	108628419	3	1	88	1	0	0	0	0	1	0	0	0	6945	681	24	3	293	3	GUCY2F	23	108628419	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	649132	108628419	46642141	20667	28379											
TMEM164	84187	broad.mit.edu	37	chrX	109416479	109416479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttgtccctgcaggtcaccGaagtgaatttgaacaacatg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109416479G>A	ENST00000372073.1	+	7	1030	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372068.2_Missense_Mutation_p.E232K|TMEM164_ENST00000372072.3_Missense_Mutation_p.E83K|TMEM164_ENST00000288381.4_Missense_Mutation_p.E193K			Q5U3C3	TM164_HUMAN	transmembrane protein 164	232						integral to membrane		p.E193K(1)|p.E232K(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GCAGGTCACCGAAGTGAATTT	0.547													False	0	False	X:109416479	0	A	109416479	G	A	109416479	3	1	88	1	0	0	0	0	1	0	0	0	16161	1059	37	1	716	1	TMEM164	23	109416479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	788060	109416479	45854081	20668	28380											
RGAG1	57529	broad.mit.edu	37	chrX	109695829	109695829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcaaatgacagacacaGcctctggagggttgtctgca	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109695829G>T	ENST00000465301.2	+	3	2230	c.1984G>T	c.(1984-1986)Gcc>Tcc	p.A662S	RGAG1_ENST00000540313.1_Missense_Mutation_p.A662S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	662										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GACAGACACAGCCTCTGGAGG	0.512													False	0	False	X:109695829	0	T	109695829	G	T	109695829	3	4	88	1	0	0	0	0	1	0	0	0	13353	971	34	3	1986	3	RGAG1	23	109695829	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	279350	109695829	45574731	20669	28381											
RGAG1	57529	broad.mit.edu	37	chrX	109696078	109696078	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaccgctggagggatgCagatgaattccccaacctct	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109696078C>T	ENST00000465301.2	+	3	2479	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.Q745*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	745										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGGAGGGATGCAGATGAATTC	0.527													False	0	False	X:109696078	0	T	109696078	C	T	109696078	4	4	88	1	0	0	0	0	0	1	0	0	13353	711	25	2	2235	2	RGAG1	23	109696078	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249	109696078	45574482	20670	28382											
ALG13	79868	broad.mit.edu	37	chrX	110954908	110954908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttatttttgaagtatgtGgagggatcttttgagaaata	11	1	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:110954908G>A	ENST00000394780.3	+	6	852	c.840G>A	c.(838-840)gtG>gtA	p.V280V	ALG13_ENST00000251943.4_Silent_p.V176V	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	280	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						TGAAGTATGTGGAGGGATCTT	0.343													False	0	False	X:110954908	0	A	110954908	G	A	110954908	2	1	88	1	0	0	0	0	0	0	0	1	515	1335	47	2		2	ALG13	23	110954908	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1258830	110954908	44315652	20671	28383											
TRPC5	7224	broad.mit.edu	37	chrX	111090508	111090508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatatcaagcagcatgcGtcccaaagagatctgcagag	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111090508G>A	ENST00000262839.2	-	6	2452	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	512					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCAGCATGCGTCCCAAAGAG	0.443													False	0	False	X:111090508	0	A	111090508	G	A	111090508	3	1	88	1	0	0	0	0	1	0	0	0	16665	1145	40	1	1411	1	TRPC5	23	111090508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135600	111090508	44180052	20672	28384											
TRPC5	7224	broad.mit.edu	37	chrX	111097109	111097109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaagcataaagaggaaggTcaaataggatgctgtgtggc	15	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111097109T>C	ENST00000262839.2	-	4	2044	c.1126A>G	c.(1126-1128)Acc>Gcc	p.T376A		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	376					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGAGGAAGGTCAAATAGGAT	0.488													False	0	False	X:111097109	0	C	111097109	T	C	111097109	3	2	88	1	0	0	0	0	1	0	0	0	16665	1667	58	4	1827	4	TRPC5	23	111097109	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6601	111097109	44173451	20673	28385											
TRPC5	7224	broad.mit.edu	37	chrX	111097131	111097131	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaataggatgctgtgtggcaGataaacttgataaagggttt	12	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111097131G>T	ENST00000262839.2	-	4	2022	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	368					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGTGTGGCAGATAAACTTGA	0.493													False	0	False	X:111097131	0	T	111097131	G	T	111097131	2	4	88	1	0	0	0	0	0	0	0	1	16665	932	33	3		3	TRPC5	23	111097131	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	111097131	44173429	20674	28386											
TRPC5	7224	broad.mit.edu	37	chrX	111155577	111155577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtcatggtacttctgaGggtcaagctcttcactgtgg	12	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111155577G>A	ENST00000262839.2	-	3	1760	c.842C>T	c.(841-843)cCt>cTt	p.P281L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	281					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTACTTCTGAGGGTCAAGCTC	0.507													False	0	True	X:111155577	0	A	111155577	G	A	111155577	3	1	88	1	0	0	0	0	1	0	0	0	16665	1000	35	2	2115	2	TRPC5	23	111155577	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58446	111155577	44114983	20675	28387											
AMOT	154796	broad.mit.edu	37	chrX	112048243	112048243	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcggatttcgatgtgtcGtctttggtcctcattggtag	11	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:112048243G>A	ENST00000371959.3	-	5	1707	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	AMOT_ENST00000524145.1_Nonsense_Mutation_p.R570*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.R161*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	570					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCGATGTGTCGTCTTTGGTCC	0.512													False	0	False	X:112048243	0	A	112048243	G	A	112048243	4	1	88	1	0	0	0	0	0	1	0	0	582	1153	40	1	1574	1	AMOT	23	112048243	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	892666	112048243	43222317	20676	28388											
AMOT	154796	broad.mit.edu	37	chrX	112054512	112054512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatcatgcatcctccgaAtctcgccctctagcttgttt	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:112054512A>G	ENST00000371959.3	-	3	1501	c.1502T>C	c.(1501-1503)aTt>aCt	p.I501T	AMOT_ENST00000524145.1_Missense_Mutation_p.I501T|AMOT_ENST00000371958.1_Missense_Mutation_p.I269T|AMOT_ENST00000304758.1_Missense_Mutation_p.I92T|AMOT_ENST00000371962.1_Missense_Mutation_p.I269T	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	501					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CATCCTCCGAATCTCGCCCTC	0.517													False	0	False	X:112054512	0	G	112054512	A	G	112054512	3	3	88	1	0	0	0	0	1	0	0	0	582	101	4	4	1788	4	AMOT	23	112054512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6269	112054512	43216048	20677	28389											
IL13RA2	3598	broad.mit.edu	37	chrX	114250325	114250326	+	In_Frame_Ins	INS	-	-	GAAGAA													gacagtgggggttgccattgINScaaatagagataacctaagt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:114250325_114250326insGAAGAA	ENST00000371936.1	-	4	402_403	c.153_154insTTCTTC	c.(151-156)ttgcaa>ttgTTCTTCcaa	p.51_52LQ>LFFQ	IL13RA2_ENST00000243213.1_In_Frame_Ins_p.51_52LQ>LFFQ|IL13RA2_ENST00000468224.1_5'UTR			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	51	Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GGTTGCCATTGCAAATAGAGAT	0.351													False	0	True	X:114250325	0	GAAGAA	114250326	-	GAAGAA	114250325	7	5	88	1	0	1	1	0	0	0	0	0	7680	1328	46	0	1020	0	IL13RA2	23	114250325	In_Frame_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	2195813	114250325	41020235	20678	28390											
LRCH2	57631	broad.mit.edu	37	chrX	114404869	114404869	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgttacattacctgtctgTgagaggctgtgagggcattc	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:114404869T>G	ENST00000317135.8	-	6	1021	c.991A>C	c.(991-993)Aca>Cca	p.T331P	LRCH2_ENST00000538422.1_Missense_Mutation_p.T331P	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	331										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TACCTGTCTGTGAGAGGCTGT	0.333													False	0	True	X:114404869	0	G	114404869	T	G	114404869	3	3	88	1	0	0	0	0	1	0	0	0	8995	1696	59	4	1370	4	LRCH2	23	114404869	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	154544	114404869	40865691	20679	28391											
DOCK11	139818	broad.mit.edu	37	chrX	117676803	117676803	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttcccaatggaagatatatCtgtgagttcacaaacacttc	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:117676803C>A	ENST00000276204.6	+	2	292	c.218C>A	c.(217-219)tCt>tAt	p.S73Y	DOCK11_ENST00000276202.7_Splice_Site_p.S73Y			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	73	Interaction with activated CDC42 (By similarity).				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GAAGATATATCTGTGAGTTCA	0.403													False	0	True	X:117676803	0	A	117676803	C	A	117676803	5	1	88	1	0	0	0	0	0	0	1	0	4716	927	32	3	224	3	DOCK11	23	117676803	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3271934	117676803	37593757	20680	28392											
LONRF3	79836	broad.mit.edu	37	chrX	118112410	118112410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaatagcatgtaagctccGcccgatgggttttaaggtga	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118112410G>A	ENST00000304778.7	+	2	1083	c.920G>A	c.(919-921)cGc>cAc	p.R307H	LONRF3_ENST00000371628.3_Missense_Mutation_p.R307H|LONRF3_ENST00000422289.2_5'UTR|LONRF3_ENST00000472173.1_3'UTR	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	307					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TGTAAGCTCCGCCCGATGGGT	0.498													False	0	True	X:118112410	0	A	118112410	G	A	118112410	3	1	88	1	0	0	0	0	1	0	0	0	8958	1087	38	1	926	1	LONRF3	23	118112410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	435607	118112410	37158150	20681	28393											
KIAA1210	57481	broad.mit.edu	37	chrX	118223067	118223067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggccttttgtaaatcaaagCtgaaagcttcttgatcttct	8	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118223067C>A	ENST00000402510.2	-	11	2125	c.2126G>T	c.(2125-2127)aGc>aTc	p.S709I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	709										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TAAATCAAAGCTGAAAGCTTC	0.428													False	0	False	X:118223067	0	A	118223067	C	A	118223067	3	1	88	1	0	0	0	0	1	0	0	0	8264	797	28	3	3019	3	KIAA1210	23	118223067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110657	118223067	37047493	20682	28394											
KIAA1210	57481	broad.mit.edu	37	chrX	118239009	118239009	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttgtggattcttaggTgactcatcatcgagagagat	10	6	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118239009T>C	ENST00000402510.2	-	7	1013	c.1014A>G	c.(1012-1014)tcA>tcG	p.S338S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	338										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GATTCTTAGGTGACTCATCAT	0.463													False	0	False	X:118239009	0	C	118239009	T	C	118239009	2	2	88	1	0	0	0	0	0	0	0	1	8264	1683	59	4		4	KIAA1210	23	118239009	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15942	118239009	37031551	20683	28395											
NKRF	55922	broad.mit.edu	37	chrX	118724025	118724025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactgagctgtgtcgttcaGcgtgcacacgggatttgaag	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118724025G>A	ENST00000371527.1	-	2	2015	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Silent_p.L470L|NKRF_ENST00000304449.5_Silent_p.L455L	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	455					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GTGTCGTTCAGCGTGCACACG	0.428													False	0	False	X:118724025	0	A	118724025	G	A	118724025	2	1	88	1	0	0	0	0	0	0	0	1	10515	962	34	2		2	NKRF	23	118724025	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	485016	118724025	36546535	20684	28396											
NKRF	55922	broad.mit.edu	37	chrX	118724252	118724252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgatcttgtaaaaacactCgacaacgccatgtgcgattt	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118724252C>T	ENST00000371527.1	-	2	1788	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.R394Q|NKRF_ENST00000304449.5_Missense_Mutation_p.R379Q	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	379					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TAAAAACACTCGACAACGCCA	0.383													False	0	False	X:118724252	0	T	118724252	C	T	118724252	3	4	88	1	0	0	0	0	1	0	0	0	10515	884	31	1	940	1	NKRF	23	118724252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	118724252	36546308	20685	28397											
UPF3B	0	broad.mit.edu	37	chrX	118972012	118972012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccgctctcatcttcaGgtctgcatgaaaaacaaatc	6	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118972012G>T	ENST00000276201.2	-	10	1079	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H	UPF3B_ENST00000345865.2_Missense_Mutation_p.P324H	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	337	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CTCATCTTCAGGTCTGCATGA	0.473													False	0	False	X:118972012	0	T	118972012	G	T	118972012	3	4	88	1	0	0	0	0	1	0	0	0	17090	1000	35	3	449	3	UPF3B	23	118972012	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247760	118972012	36298548	20686	28398											
AKAP14	158798	broad.mit.edu	37	chrX	119054470	119054470	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttgtttttcttcctttgtaGaccaggaatggttcgctttc	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119054470G>T	ENST00000371431.3	+	7	768		c.e7-1		AKAP14_ENST00000491105.1_Splice_Site|AKAP14_ENST00000371423.2_Splice_Site|AKAP14_ENST00000371425.4_Splice_Site|AKAP14_ENST00000334356.2_Splice_Site	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14							cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						TTCCTTTGTAGACCAGGAATG	0.333													False	0	False	X:119054470	0	T	119054470	G	T	119054470	5	4	88	1	0	0	0	0	0	0	1	0	450	956	33	3	521	3	AKAP14	23	119054470	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82458	119054470	36216090	20687	28399											
NKAP	79576	broad.mit.edu	37	chrX	119068457	119068457	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataaaacttaaaaaactgacGatctgtgtttcttcttcttt	4	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119068457G>A	ENST00000371410.3	-	5	903	c.737C>T	c.(736-738)tCg>tTg	p.S246L	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	246	Lys-rich.|Necessary for interaction with CIR1.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AAAAACTGACGATCTGTGTTT	0.289													False	0	False	X:119068457	0	A	119068457	G	A	119068457	5	1	88	1	0	0	0	0	0	0	1	0	10507	1072	37	1	530	1	NKAP	23	119068457	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13987	119068457	36202103	20688	28400											
NKAP	79576	broad.mit.edu	37	chrX	119070262	119070262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttggcgttcttaccaCtggagtctgtttcagaatca	10	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119070262C>T	ENST00000371410.3	-	4	837	c.671G>A	c.(670-672)aGt>aAt	p.S224N	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	224	Lys-rich.|Necessary for interaction with CIR1.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GTTCTTACCACTGGAGTCTGT	0.348													False	0	False	X:119070262	0	T	119070262	C	T	119070262	3	4	88	1	0	0	0	0	1	0	0	0	10507	565	20	2	600	2	NKAP	23	119070262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1805	119070262	36200298	20689	28401											
CUL4B	8450	broad.mit.edu	37	chrX	119668403	119668403	+	Silent	SNP	C	C	T													tcattaaacattagcagcacCagtgtttgaaaaagagagac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119668403C>T	ENST00000371322.5	-	17	2260	c.2199G>A	c.(2197-2199)ctG>ctA	p.L733L	CUL4B_ENST00000404115.3_Silent_p.L751L|CUL4B_ENST00000336592.6_Silent_p.L738L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	751					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTAGCAGCACCAGTGTTTGAA	0.348													False	0	False	X:119668403	0	T	119668403	C	T	119668403	2	4	88	1	0	0	0	0	0	0	0	1	4083	581	21	2		2	CUL4B	23	119668403	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	598141	119668403	35602157	20690	28402	293	2									
CUL4B	8450	broad.mit.edu	37	chrX	119668405	119668405	+	Silent	SNP	G	G	A													attaaacattagcagcaccaGtgtttgaaaaagagagacct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119668405G>A	ENST00000371322.5	-	17	2258	c.2197C>T	c.(2197-2199)Ctg>Ttg	p.L733L	CUL4B_ENST00000404115.3_Silent_p.L751L|CUL4B_ENST00000336592.6_Silent_p.L738L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	751					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGCAGCACCAGTGTTTGAAAA	0.343													False	0	False	X:119668405	0	A	119668405	G	A	119668405	2	1	88	1	0	0	0	0	0	0	0	1	4083	1020	36	2		2	CUL4B	23	119668405	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	119668405	35602155	20691	28403	293	2									
CUL4B	8450	broad.mit.edu	37	chrX	119674407	119674407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggattaattacaatagtgCtgccaaatgcctaaaacaaa	6	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119674407C>A	ENST00000371322.5	-	11	1515	c.1454G>T	c.(1453-1455)aGc>aTc	p.S485I	CUL4B_ENST00000404115.3_Missense_Mutation_p.S503I|CUL4B_ENST00000336592.6_Missense_Mutation_p.S490I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	503				G -> D (in Ref. 4; CAD97843).	cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACAATAGTGCTGCCAAATGC	0.294													False	0	False	X:119674407	0	A	119674407	C	A	119674407	3	1	88	1	0	0	0	0	1	0	0	0	4083	797	28	3	1273	3	CUL4B	23	119674407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6002	119674407	35596153	20692	28404											
CT47B1	643311	broad.mit.edu	37	chrX	120009228	120009228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagttggccgcctcgttcccCtcttcctcctcctcctcttc	5	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120009228C>A	ENST00000371311.3	-	1	551	c.297G>T	c.(295-297)gaG>gaT	p.E99D		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	99	Poly-Glu.									breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						cctcgttcccctcttcctcct	0.692													False	0	True	X:120009228	0	A	120009228	C	A	120009228	3	1	88	1	0	0	0	0	1	0	0	0	4014	680	24	3	610	3	CT47B1	23	120009228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	334821	120009228	35261332	20693	28405											
GLUD2	2747	broad.mit.edu	37	chrX	120182660	120182660	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaggaagcatcttggaggtCgactgtgacatactgatccc	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120182660C>T	ENST00000328078.1	+	1	1199	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	374					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCTTGGAGGTCGACTGTGACA	0.502													False	0	False	X:120182660	0	T	120182660	C	T	120182660	2	4	88	1	0	0	0	0	0	0	0	1	6522	871	31	1		1	GLUD2	23	120182660	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	173432	120182660	35087900	20694	28406											
GLUD2	2747	broad.mit.edu	37	chrX	120182956	120182956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgtctgttcaagagaGtttagaaagaaaatttggaa	10	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120182956G>A	ENST00000328078.1	+	1	1495	c.1418G>A	c.(1417-1419)aGt>aAt	p.S473N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	473					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTTCAAGAGAGTTTAGAAAGA	0.418													False	0	True	X:120182956	0	A	120182956	G	A	120182956	3	1	88	1	0	0	0	0	1	0	0	0	6522	1029	36	2	1420	2	GLUD2	23	120182956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296	120182956	35087604	20695	28407											
THOC2	57187	broad.mit.edu	37	chrX	122755365	122755365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggcctctggagtagtagCtggagtcttttcttttttct	10	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:122755365C>A	ENST00000245838.8	-	31	3890	c.3859G>T	c.(3859-3861)Gct>Tct	p.A1287S	THOC2_ENST00000491737.1_Missense_Mutation_p.A1172S|THOC2_ENST00000355725.4_Missense_Mutation_p.A1287S	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1287	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GGAGTAGTAGCTGGAGtcttt	0.358													False	0	False	X:122755365	0	A	122755365	C	A	122755365	3	1	88	1	0	0	0	0	1	0	0	0	15947	797	28	3	954	3	THOC2	23	122755365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2572409	122755365	32515195	20696	28408											
THOC2	57187	broad.mit.edu	37	chrX	122829989	122829989	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcttaacaaattgaaTttttgctgcttataactgaa	4	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:122829989T>C	ENST00000245838.8	-	7	514	c.483A>G	c.(481-483)aaA>aaG	p.K161K	THOC2_ENST00000491737.1_Silent_p.K46K|THOC2_ENST00000355725.4_Silent_p.K161K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	161					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACAAATTGAATTTTTGCTGCT	0.299													False	0	True	X:122829989	0	C	122829989	T	C	122829989	2	2	88	1	0	0	0	0	0	0	0	1	15947	1490	52	4		4	THOC2	23	122829989	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	74624	122829989	32440571	20697	28409											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299095	125299095	+	Silent	SNP	G	G	A													cccagctcctggttcttgccGctgaaggccagggcccgtac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:125299095G>A	ENST00000538699.1	-	2	893	c.813C>T	c.(811-813)agC>agT	p.S271S	DCAF12L2_ENST00000360028.2_Silent_p.S271S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	271										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGTTCTTGCCGCTGAAGGCCA	0.637													False	0	False	X:125299095	0	A	125299095	G	A	125299095	2	1	88	1	0	0	0	0	0	0	0	1	4290	1078	38	1		1	DCAF12L2	23	125299095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2469106	125299095	29971465	20698	28410	294	2									
DCAF12L2	340578	broad.mit.edu	37	chrX	125299102	125299102	+	Missense_Mutation	SNP	G	G	A													cctggttcttgccgctgaagGccagggcccgtaccttgcgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:125299102G>A	ENST00000538699.1	-	2	886	c.806C>T	c.(805-807)gCc>gTc	p.A269V	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A269V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	269										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCGCTGAAGGCCAGGGCCCG	0.637													False	0	False	X:125299102	0	A	125299102	G	A	125299102	3	1	88	1	0	0	0	0	1	0	0	0	4290	1203	42	2	589	2	DCAF12L2	23	125299102	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	125299102	29971458	20699	28411	294	2									
SMARCA1	6594	broad.mit.edu	37	chrX	128582342	128582342	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttgcccgtttcttcttttCtgctctctctctttcctcaa	4	14	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128582342C>A	ENST00000371122.4	-	24	3238	c.3109G>T	c.(3109-3111)Gaa>Taa	p.E1037*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.E1025*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.E1025*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	1037					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTCTTCTTTTCTGCTCTCTCT	0.313													False	0	True	X:128582342	0	A	128582342	C	A	128582342	4	1	88	1	0	0	0	0	0	1	0	0	14848	922	32	3	59	3	SMARCA1	23	128582342	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3283240	128582342	26688218	20700	28412											
OCRL	4952	broad.mit.edu	37	chrX	128691392	128691392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttgaagttcctctcagCtgtccttgctgctcagaaag	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128691392C>T	ENST00000371113.4	+	5	494	c.329C>T	c.(328-330)gCt>gTt	p.A110V	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.A110V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	110					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCCTCTCAGCTGTCCTTGCT	0.463													False	0	False	X:128691392	0	T	128691392	C	T	128691392	3	4	88	1	0	0	0	0	1	0	0	0	10891	797	28	2	347	2	OCRL	23	128691392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109050	128691392	26579168	20701	28413											
XPNPEP2	7512	broad.mit.edu	37	chrX	128880624	128880624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagattcctgctggagggCgtgtgggttttgaccccttc	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128880624C>T	ENST00000371106.3	+	6	649	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.R153C	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	153					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGCTGGAGGGCGTGTGGGTTT	0.522													False	0	True	X:128880624	0	T	128880624	C	T	128880624	3	4	88	1	0	0	0	0	1	0	0	0	17527	768	27	1	479	1	XPNPEP2	23	128880624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	189232	128880624	26389936	20702	28414											
UTP14A	10813	broad.mit.edu	37	chrX	129045772	129045772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtagcattcaataaaaccGcacaagtcctctccaaatgg	6	11	2	0	rs150155910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129045772G>A	ENST00000394422.3	+	6	440	c.412G>A	c.(412-414)Gca>Aca	p.A138T	UTP14A_ENST00000371051.5_Missense_Mutation_p.A84T|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Intron	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	138					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAATAAAACCGCACAAGTCCT	0.498													False	0	False	X:129045772	0	A	129045772	G	A	129045772	3	1	88	1	0	0	0	0	1	0	0	0	17179	1087	38	1	434	1	UTP14A	23	129045772	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165148	129045772	26224788	20703	28415											
UTP14A	10813	broad.mit.edu	37	chrX	129060260	129060260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaagaaaagataagaAtttgccaaatgtgattatca	6	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129060260A>G	ENST00000394422.3	+	14	2016	c.1988A>G	c.(1987-1989)aAt>aGt	p.N663S	UTP14A_ENST00000371051.5_Missense_Mutation_p.N609S|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.N611S|UTP14A_ENST00000371042.3_Missense_Mutation_p.N495S	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	663					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAGATAAGAATTTGCCAAAT	0.448											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	X:129060260	0	G	129060260	A	G	129060260	3	3	88	1	0	0	0	0	1	0	0	0	17179	101	4	4	2042	4	UTP14A	23	129060260	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14488	129060260	26210300	20704	28416											
AIFM1	9131	broad.mit.edu	37	chrX	129263959	129263959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctaccttccttgctattgGcattcggttaaagatgttcc	7	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129263959G>A	ENST00000287295.3	-	15	1986	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	AIFM1_ENST00000319908.3_Missense_Mutation_p.P582S|AIFM1_ENST00000346424.2_Missense_Mutation_p.P299S|AIFM1_ENST00000440263.1_Missense_Mutation_p.P234S|AIFM1_ENST00000460436.2_Missense_Mutation_p.P247S|AIFM1_ENST00000535724.1_3'UTR	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	586					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CTTGCTATTGGCATTCGGTTA	0.507													False	0	False	X:129263959	0	A	129263959	G	A	129263959	3	1	88	1	0	0	0	0	1	0	0	0	426	1203	42	2	93	2	AIFM1	23	129263959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203699	129263959	26006601	20705	28417											
RAB33A	9363	broad.mit.edu	37	chrX	129318474	129318474	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtgtgacttgagggaacaGatccaggtgccctccaactt	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129318474G>T	ENST00000257017.4	+	2	888	c.474G>T	c.(472-474)caG>caT	p.Q158H		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	158					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGAGGGAACAGATCCAGGTGC	0.522													False	0	False	X:129318474	0	T	129318474	G	T	129318474	3	4	88	1	0	0	0	0	1	0	0	0	13001	933	33	3	480	3	RAB33A	23	129318474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54515	129318474	25952086	20706	28418											
RBMX2	51634	broad.mit.edu	37	chrX	129546425	129546425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcttcgtcacccagacGcaagacagtaaaggaaaagg	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129546425G>A	ENST00000305536.6	+	6	636	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	191	Lys-rich.						nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						TCACCCAGACGCAAGACAGTA	0.488													False	0	False	X:129546425	0	A	129546425	G	A	129546425	3	1	88	1	0	0	0	0	1	0	0	0	13231	1087	38	1	594	1	RBMX2	23	129546425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227951	129546425	25724135	20707	28419											
ENOX2	10495	broad.mit.edu	37	chrX	129771328	129771328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcattccggtaggcatcgaGctgccaacggaggctgtcat	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129771328G>T	ENST00000338144.3	-	12	1690	c.1273C>A	c.(1273-1275)Ctc>Atc	p.L425I	ENOX2_ENST00000370935.1_Missense_Mutation_p.L396I|ENOX2_ENST00000394363.1_Missense_Mutation_p.L396I|ENOX2_ENST00000370927.1_Missense_Mutation_p.L425I	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	425					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	p.L425I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TAGGCATCGAGCTGCCAACGG	0.428													False	0	False	X:129771328	0	T	129771328	G	T	129771328	3	4	88	1	0	0	0	0	1	0	0	0	5159	971	34	3	579	3	ENOX2	23	129771328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224903	129771328	25499232	20708	28420											
ENOX2	10495	broad.mit.edu	37	chrX	129801587	129801587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgggcagctttctcgttcAccaggcggcggacatggctg	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129801587A>G	ENST00000338144.3	-	9	1328	c.911T>C	c.(910-912)gTg>gCg	p.V304A	ENOX2_ENST00000370935.1_Missense_Mutation_p.V275A|ENOX2_ENST00000394363.1_Missense_Mutation_p.V275A|ENOX2_ENST00000370927.1_Missense_Mutation_p.V304A	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	304					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTTCTCGTTCACCAGGCGGCG	0.502													False	0	False	X:129801587	0	G	129801587	A	G	129801587	3	3	88	1	0	0	0	0	1	0	0	0	5159	159	6	4	953	4	ENOX2	23	129801587	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30259	129801587	25468973	20709	28421											
IGSF1	3547	broad.mit.edu	37	chrX	130409168	130409168	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caacaggacaaatgttgagtCtggcagttccccttgacact	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130409168C>A	ENST00000370904.1	-	23	4160	c.3250G>T	c.(3250-3252)Gac>Tac	p.D1084Y	IGSF1_ENST00000370903.3_Missense_Mutation_p.D1098Y|IGSF1_ENST00000361420.3_Missense_Mutation_p.D1093Y|IGSF1_ENST00000370910.1_Missense_Mutation_p.D1084Y			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1093	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AATGTTGAGTCTGGCAGTTCC	0.557													False	0	False	X:130409168	0	A	130409168	C	A	130409168	3	1	88	1	0	0	0	0	1	0	0	0	7646	913	32	3	749	3	IGSF1	23	130409168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	607581	130409168	24861392	20710	28422											
IGSF1	3547	broad.mit.edu	37	chrX	130412536	130412536	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgggtcagggcgccaAgggggaaggcagcccggacc	19	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130412536A>C	ENST00000370904.1	-	18	2823	c.1913T>G	c.(1912-1914)cTt>cGt	p.L638R	IGSF1_ENST00000370903.3_Missense_Mutation_p.L652R|IGSF1_ENST00000361420.3_Missense_Mutation_p.L647R|IGSF1_ENST00000370910.1_Missense_Mutation_p.L638R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	647	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAGGGCGCCAAGGGGGAAGGC	0.632													False	0	True	X:130412536	0	C	130412536	A	C	130412536	3	2	88	1	0	0	0	0	1	0	0	0	7646	72	3	4	2106	4	IGSF1	23	130412536	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3368	130412536	24858024	20711	28423											
IGSF1	3547	broad.mit.edu	37	chrX	130415855	130415855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atactcggcactgaagggtgAtggcctttcctagcttgaac	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130415855A>G	ENST00000370904.1	-	14	2193	c.1283T>C	c.(1282-1284)aTc>aCc	p.I428T	IGSF1_ENST00000370903.3_Missense_Mutation_p.I437T|IGSF1_ENST00000361420.3_Missense_Mutation_p.I437T|IGSF1_ENST00000370910.1_Missense_Mutation_p.I428T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	437	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGAAGGGTGATGGCCTTTCC	0.473													False	0	False	X:130415855	0	G	130415855	A	G	130415855	3	3	88	1	0	0	0	0	1	0	0	0	7646	333	12	4	2767	4	IGSF1	23	130415855	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3319	130415855	24854705	20712	28424											
FRMD7	90167	broad.mit.edu	37	chrX	131228097	131228097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgagataccatcaacgCtgtacagttgtcactgcatg	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:131228097C>T	ENST00000298542.4	-	5	530	c.355G>A	c.(355-357)Gcg>Acg	p.A119T	FRMD7_ENST00000464296.1_Missense_Mutation_p.A104T|FRMD7_ENST00000370879.1_5'UTR	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	119	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ACCATCAACGCTGTACAGTTG	0.443													False	0	False	X:131228097	0	T	131228097	C	T	131228097	3	4	88	1	0	0	0	0	1	0	0	0	6097	797	28	2	1821	2	FRMD7	23	131228097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	812242	131228097	24042463	20713	28425											
RAP2C	57826	broad.mit.edu	37	chrX	131348212	131348212	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctttactggacgacacaaGttgtacaacactgatcttgc	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:131348212G>T	ENST00000342983.2	-	3	1282	c.536C>A	c.(535-537)aCt>aAt	p.T179N	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.T179N	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	179					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GACGACACAAGTTGTACAACA	0.403													False	0	False	X:131348212	0	T	131348212	G	T	131348212	3	4	88	1	0	0	0	0	1	0	0	0	13121	1029	36	3	19	3	RAP2C	23	131348212	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120115	131348212	23922348	20714	28426											
GPC4	2239	broad.mit.edu	37	chrX	132445370	132445370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagtagttgtaacatgGcttcacagtcacgagacccc	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132445370G>A	ENST00000370828.3	-	4	1317	c.793C>T	c.(793-795)Cca>Tca	p.P265S	GPC4_ENST00000535467.1_Missense_Mutation_p.P195S	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	265					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TTGTAACATGGCTTCACAGTC	0.468													False	0	False	X:132445370	0	A	132445370	G	A	132445370	3	1	88	1	0	0	0	0	1	0	0	0	6646	1203	42	2	901	2	GPC4	23	132445370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1097158	132445370	22825190	20715	28427											
GPC3	2719	broad.mit.edu	37	chrX	132833993	132833993	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tactttcttgtcaataaagaGatcttcaggataataagcag	7	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132833993G>T	ENST00000370818.3	-	4	1541	c.1096C>A	c.(1096-1098)Ctc>Atc	p.L366I	GPC3_ENST00000543339.1_Missense_Mutation_p.L312I|GPC3_ENST00000394299.2_Missense_Mutation_p.L389I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	366						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCAATAAAGAGATCTTCAGGA	0.333			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				False	0	False	X:132833993	0	T	132833993	G	T	132833993	3	4	88	1	0	0	0	0	1	0	0	0	6645	942	33	3	666	3	GPC3	23	132833993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	388623	132833993	22436567	20716	28428											
GPC3	2719	broad.mit.edu	37	chrX	132887781	132887781	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacattctggtgagcattcGgccacagtccttactgaact	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132887781G>A	ENST00000370818.3	-	3	1205	c.760C>T	c.(760-762)Cga>Tga	p.R254*	GPC3_ENST00000543339.1_Nonsense_Mutation_p.R200*|GPC3_ENST00000394299.2_Nonsense_Mutation_p.R254*	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	254						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	p.R254*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTGAGCATTCGGCCACAGTCC	0.483			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				False	0	False	X:132887781	0	A	132887781	G	A	132887781	4	1	88	1	0	0	0	0	0	1	0	0	6645	1124	39	1	1079	1	GPC3	23	132887781	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53788	132887781	22382779	20717	28429											
PLAC1	10761	broad.mit.edu	37	chrX	133700087	133700087	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggatcacatggacccaAtcatatcatctgtgtgaaga	9	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:133700087A>C	ENST00000359237.4	-	3	911	c.626T>G	c.(625-627)aTt>aGt	p.I209S	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	209					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CATGGACCCAATCATATCATC	0.448													False	0	True	X:133700087	0	C	133700087	A	C	133700087	3	2	88	1	0	0	0	0	1	0	0	0	12081	101	4	4	16	4	PLAC1	23	133700087	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	812306	133700087	21570473	20718	28430											
CXorf48	54967	broad.mit.edu	37	chrX	134305013	134305013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaataccttgtgggaggCcctgctgctgtgggccctgt	16	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:134305013C>T	ENST00000344129.2	-	1	309	c.83G>A	c.(82-84)gGc>gAc	p.G28D	CXorf48_ENST00000276241.6_Missense_Mutation_p.G28D	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	28										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGTGGGAGGCCCTGCTGCTG	0.612													False	0	True	X:134305013	0	T	134305013	C	T	134305013	3	4	88	1	0	0	0	0	1	0	0	0	4136	739	26	2	739	2	CXorf48	23	134305013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	604926	134305013	20965547	20719	28431											
DDX26B	203522	broad.mit.edu	37	chrX	134711279	134711279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtaactaaccatgtgggCggaaagggaccaccctcagc	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:134711279C>T	ENST00000370752.4	+	14	2269	c.1935C>T	c.(1933-1935)ggC>ggT	p.G645G	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	645								p.G645G(2)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATGTGGGCGGAAAGGGAC	0.488													False	0	True	X:134711279	0	T	134711279	C	T	134711279	2	4	88	1	0	0	0	0	0	0	0	1	4378	755	27	1		1	DDX26B	23	134711279	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	406266	134711279	20559281	20720	28432											
SLC9A6	10479	broad.mit.edu	37	chrX	135067752	135067752	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcggcccctttggttgCtcctcgcagtgggcgtcttt	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135067752C>A	ENST00000370695.4	+	1	126	c.91C>A	c.(91-93)Ctc>Atc	p.L31I	SLC9A6_ENST00000370701.1_Intron|SLC9A6_ENST00000370698.3_Missense_Mutation_p.L31I	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	31					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTTTGGTTGCTCCTCGCAGT	0.716													False	0	False	X:135067752	0	A	135067752	C	A	135067752	3	1	88	1	0	0	0	0	1	0	0	0	14798	797	28	3	93	3	SLC9A6	23	135067752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356473	135067752	20202808	20721	28433											
SLC9A6	10479	broad.mit.edu	37	chrX	135095513	135095513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgtctttataggtgtaGttgcagtattgttttgtggc	12	3	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135095513G>A	ENST00000370695.4	+	9	1188	c.1153G>A	c.(1153-1155)Gtt>Att	p.V385I	SLC9A6_ENST00000370701.1_Missense_Mutation_p.V333I|SLC9A6_ENST00000370698.3_Missense_Mutation_p.V353I	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	353					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TATAGGTGTAGTTGCAGTATT	0.363													False	0	False	X:135095513	0	A	135095513	G	A	135095513	3	1	88	1	0	0	0	0	1	0	0	0	14798	1029	36	2	1187	2	SLC9A6	23	135095513	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27761	135095513	20175047	20722	28434											
MAP7D3	79649	broad.mit.edu	37	chrX	135328253	135328253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccttttctcctctctgCgctctcttgctaatctttgt	5	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135328253C>T	ENST00000316077.9	-	3	444	c.224G>A	c.(223-225)cGc>cAc	p.R75H	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R57H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R75H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	75						cytoplasm|spindle		p.R372H(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTCCTCTCTGCGCTCTCTTGC	0.274													False	0	False	X:135328253	0	T	135328253	C	T	135328253	3	4	88	1	0	0	0	0	1	0	0	0	9336	768	27	1	2470	1	MAP7D3	23	135328253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	232740	135328253	19942307	20723	28435											
GPR112	139378	broad.mit.edu	37	chrX	135429074	135429074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaccacctttggatcagaCtgcttccacaaccattgtta	7	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135429074C>T	ENST00000394143.1	+	6	3500	c.3209C>T	c.(3208-3210)aCt>aTt	p.T1070I	GPR112_ENST00000287534.4_Missense_Mutation_p.T1007I|GPR112_ENST00000394141.1_Missense_Mutation_p.T865I|GPR112_ENST00000370652.1_Missense_Mutation_p.T1070I|GPR112_ENST00000412101.1_Missense_Mutation_p.T865I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1070					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T1070N(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGGATCAGACTGCTTCCACA	0.468													False	0	False	X:135429074	0	T	135429074	C	T	135429074	3	4	88	1	0	0	0	0	1	0	0	0	6675	565	20	2	3219	2	GPR112	23	135429074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100821	135429074	19841486	20724	28436											
GPR112	139378	broad.mit.edu	37	chrX	135429170	135429170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaggaagacatccatggCagttccttctctgacagaaa	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135429170C>T	ENST00000394143.1	+	6	3596	c.3305C>T	c.(3304-3306)gCa>gTa	p.A1102V	GPR112_ENST00000287534.4_Missense_Mutation_p.A1039V|GPR112_ENST00000394141.1_Missense_Mutation_p.A897V|GPR112_ENST00000370652.1_Missense_Mutation_p.A1102V|GPR112_ENST00000412101.1_Missense_Mutation_p.A897V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1102					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACATCCATGGCAGTTCCTTCT	0.478													False	0	False	X:135429170	0	T	135429170	C	T	135429170	3	4	88	1	0	0	0	0	1	0	0	0	6675	710	25	2	3315	2	GPR112	23	135429170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96	135429170	19841390	20725	28437											
GPR112	139378	broad.mit.edu	37	chrX	135430783	135430783	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatagaggcaccttccaggAtcacacctacgacctttctc	7	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135430783A>C	ENST00000394143.1	+	6	5209	c.4918A>C	c.(4918-4920)Atc>Ctc	p.I1640L	GPR112_ENST00000287534.4_Missense_Mutation_p.I1577L|GPR112_ENST00000394141.1_Missense_Mutation_p.I1435L|GPR112_ENST00000370652.1_Missense_Mutation_p.I1640L|GPR112_ENST00000412101.1_Missense_Mutation_p.I1435L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1640					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCTTCCAGGATCACACCTAC	0.448													False	0	False	X:135430783	0	C	135430783	A	C	135430783	3	2	88	1	0	0	0	0	1	0	0	0	6675	333	12	4	4928	4	GPR112	23	135430783	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1613	135430783	19839777	20726	28438											
HTATSF1	27336	broad.mit.edu	37	chrX	135581769	135581769	+	Missense_Mutation	SNP	T	T	G													ttgtgtagattactgaagatTtcattgctacatatcaggcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135581769T>G	ENST00000535601.1	+	3	621	c.199T>G	c.(199-201)Ttc>Gtc	p.F67V	HTATSF1_ENST00000218364.4_Missense_Mutation_p.F67V	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	67					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TACTGAAGATTTCATTGCTAC	0.388													False	0	True	X:135581769	0	G	135581769	T	G	135581769	3	3	88	1	0	0	0	0	1	0	0	0	7483	1841	64	4	205	4	HTATSF1	23	135581769	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	150986	135581769	19688791	20727	28439	295	2									
HTATSF1	27336	broad.mit.edu	37	chrX	135581775	135581775	+	Missense_Mutation	SNP	G	G	A													agattactgaagatttcattGctacatatcaggccaattat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135581775G>A	ENST00000535601.1	+	3	627	c.205G>A	c.(205-207)Gct>Act	p.A69T	HTATSF1_ENST00000218364.4_Missense_Mutation_p.A69T	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	69					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGATTTCATTGCTACATATCA	0.393													False	0	False	X:135581775	0	A	135581775	G	A	135581775	3	1	88	1	0	0	0	0	1	0	0	0	7483	1319	46	2	211	2	HTATSF1	23	135581775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	135581775	19688785	20728	28440	295	2									
HTATSF1	27336	broad.mit.edu	37	chrX	135593823	135593823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgaaaaagtatttgatgAtgagtctgatgagaaagagg	12	1	1	7			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135593823A>G	ENST00000535601.1	+	10	2341	c.1919A>G	c.(1918-1920)gAt>gGt	p.D640G	HTATSF1_ENST00000218364.4_Missense_Mutation_p.D640G	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	640	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTATTTGATGATGAGTCTGAT	0.393													False	0	True	X:135593823	0	G	135593823	A	G	135593823	3	3	88	1	0	0	0	0	1	0	0	0	7483	333	12	4	1953	4	HTATSF1	23	135593823	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12048	135593823	19676737	20729	28441											
VGLL1	51442	broad.mit.edu	37	chrX	135632947	135632947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataagaaactatatgtatctCgtggatctgccagtaccagc	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135632947C>T	ENST00000370634.3	+	4	825	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	VGLL1_ENST00000470358.1_3'UTR	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					ATATGTATCTCGTGGATCTGC	0.428													False	0	False	X:135632947	0	T	135632947	C	T	135632947	3	4	88	1	0	0	0	0	1	0	0	0	17242	884	31	1	665	1	VGLL1	23	135632947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39124	135632947	19637613	20730	28442											
ARHGEF6	9459	broad.mit.edu	37	chrX	135862894	135862894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttttccacagagccagGcatgagtctgttgatcagtt	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135862894G>A	ENST00000250617.6	-	1	1353	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	50	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ACAGAGCCAGGCATGAGTCTG	0.428													False	0	False	X:135862894	0	A	135862894	G	A	135862894	3	1	88	1	0	0	0	0	1	0	0	0	912	1203	42	2	2270	2	ARHGEF6	23	135862894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	229947	135862894	19407666	20731	28443											
MCF2	4168	broad.mit.edu	37	chrX	138727816	138727816	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggagtctgatccattttGcctgaacgataagaagaaat	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:138727816G>A	ENST00000520602.1	-	4	427	c.142C>T	c.(142-144)Caa>Taa	p.Q48*	MCF2_ENST00000519895.1_Splice_Site_p.Q48*|MCF2_ENST00000370578.4_Splice_Site_p.Q133*|MCF2_ENST00000414978.1_Splice_Site_p.Q48*			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	0	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GATCCATTTTGCCTGAACGAT	0.318													False	0	True	X:138727816	0	A	138727816	G	A	138727816	5	1	88	1	0	0	0	0	0	0	1	0	9445	1333	46	2	3050	2	MCF2	23	138727816	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2864922	138727816	16542744	20732	28444											
CDR1	1038	broad.mit.edu	37	chrX	139866020	139866020	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctcccagtcttccagaaAatccacgtcttcccaacaat	3	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:139866020A>C	ENST00000370532.2	-	1	703	c.512T>G	c.(511-513)tTt>tGt	p.F171C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	171	6 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCTTCCAGAAAATCCACGTCT	0.428													False	0	True	X:139866020	0	C	139866020	A	C	139866020	3	2	88	1	0	0	0	0	1	0	0	0	3194	14	1	4	280	4	CDR1	23	139866020	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1138204	139866020	15404540	20733	28445											
LDOC1	23641	broad.mit.edu	37	chrX	140270770	140270770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgagggtcgagggcctaaTaatcatcctcctcttcttcg	9	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140270770T>C	ENST00000370526.2	-	1	540	c.437A>G	c.(436-438)tAt>tGt	p.Y146C	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	146					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GAGGGCCTAATAATCATCCTC	0.647													False	0	False	X:140270770	0	C	140270770	T	C	140270770	3	2	88	1	0	0	0	0	1	0	0	0	8760	1406	49	4	7	4	LDOC1	23	140270770	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	404750	140270770	14999790	20734	28446											
MAGEC3	139081	broad.mit.edu	37	chrX	140969366	140969366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttcaggaaagcccgtgaGttcatagagattctttttgg	10	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140969366G>A	ENST00000298296.1	+	4	693	c.693G>A	c.(691-693)gaG>gaA	p.E231E	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	231	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCCGTGAGTTCATAGAGA	0.443													False	0	False	X:140969366	0	A	140969366	G	A	140969366	2	1	88	1	0	0	0	0	0	0	0	1	9249	1020	36	2		2	MAGEC3	23	140969366	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	698596	140969366	14301194	20735	28447											
MAGEC3	139081	broad.mit.edu	37	chrX	140985426	140985426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaagagcccattcagagGccagcaagagaagtcttaga	11	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140985426G>A	ENST00000544766.1	+	5	1515	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	MAGEC3_ENST00000443323.2_Missense_Mutation_p.A250T|MAGEC3_ENST00000536088.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000298296.1_Silent_p.R580R|MAGEC3_ENST00000409007.1_Missense_Mutation_p.A330T	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	46	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCATTCAGAGGCCAGCAAGAG	0.468													False	0	False	X:140985426	0	A	140985426	G	A	140985426	3	1	88	1	0	0	0	0	1	0	0	0	9249	1203	42	2	2137	2	MAGEC3	23	140985426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16060	140985426	14285134	20736	28448											
MAGEC1	9947	broad.mit.edu	37	chrX	140994053	140994053	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtcttttccagagttcccCtgagagaactcagagtactt	9	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994053C>A	ENST00000285879.4	+	4	1149	c.863C>A	c.(862-864)cCt>cAt	p.P288H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	288							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGTTCCCCTGAGAGAACT	0.488										HNSCC(15;0.026)			False	0	True	X:140994053	0	A	140994053	C	A	140994053	3	1	88	1	0	0	0	0	1	0	0	0	9247	681	24	3	869	3	MAGEC1	23	140994053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8627	140994053	14276507	20737	28449											
MAGEC1	9947	broad.mit.edu	37	chrX	140994195	140994195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttttgagggttttccccaGtctcttctccagattcctat	6	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994195G>T	ENST00000285879.4	+	4	1291	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	335							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTCCCCAGTCTCTTCTCC	0.458										HNSCC(15;0.026)			False	0	False	X:140994195	0	T	140994195	G	T	140994195	3	4	88	1	0	0	0	0	1	0	0	0	9247	1020	36	3	1011	3	MAGEC1	23	140994195	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142	140994195	14276365	20738	28450											
MAGEC1	9947	broad.mit.edu	37	chrX	140994977	140994977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtctcctcactactttcCtcagagccctcctcaggggg	8	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994977C>T	ENST00000285879.4	+	4	2073	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	596							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CACTACTTTCCTCAGAGCCCT	0.577										HNSCC(15;0.026)			False	0	False	X:140994977	0	T	140994977	C	T	140994977	3	4	88	1	0	0	0	0	1	0	0	0	9247	681	24	2	1793	2	MAGEC1	23	140994977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	782	140994977	14275583	20739	28451											
MAGEC1	9947	broad.mit.edu	37	chrX	140995885	140995885	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagacagcgagtccttgataGagagcgagcccttgttcact	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140995885G>T	ENST00000285879.4	+	4	2981	c.2695G>T	c.(2695-2697)Gag>Tag	p.E899*	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	899							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTTGATAGAGAGCGAGCC	0.478										HNSCC(15;0.026)			False	0	True	X:140995885	0	T	140995885	G	T	140995885	4	4	88	1	0	0	0	0	0	1	0	0	9247	943	33	3	2701	3	MAGEC1	23	140995885	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	908	140995885	14274675	20740	28452											
MAGEC1	9947	broad.mit.edu	37	chrX	140995998	140995998	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaaggcagagatgctgacGaatgtcatcagcaggtacac	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140995998G>A	ENST00000285879.4	+	4	3094	c.2808G>A	c.(2806-2808)acG>acA	p.T936T	MAGEC1_ENST00000406005.2_Silent_p.T3T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	936	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGCTGACGAATGTCATCA	0.468										HNSCC(15;0.026)			False	0	False	X:140995998	0	A	140995998	G	A	140995998	2	1	88	1	0	0	0	0	0	0	0	1	9247	1045	37	1		1	MAGEC1	23	140995998	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113	140995998	14274562	20741	28453											
MAGEC1	9947	broad.mit.edu	37	chrX	140996169	140996169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgagtgatgagcagggCatgtcccagaaccgcctcct	12	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140996169C>T	ENST00000285879.4	+	4	3265	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G	MAGEC1_ENST00000406005.2_Silent_p.G60G	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	993	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGCAGGGCATGTCCCAGA	0.483										HNSCC(15;0.026)			False	0	True	X:140996169	0	T	140996169	C	T	140996169	2	4	88	1	0	0	0	0	0	0	0	1	9247	697	25	2		2	MAGEC1	23	140996169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171	140996169	14274391	20742	28454											
SLITRK4	139065	broad.mit.edu	37	chrX	142716967	142716967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggattccccaggccttcgTgcttcactgtgggtttcttg	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:142716967T>C	ENST00000381779.4	-	2	2183	c.1958A>G	c.(1957-1959)cAc>cGc	p.H653R	SLITRK4_ENST00000338017.4_Missense_Mutation_p.H653R|SLITRK4_ENST00000356928.1_Missense_Mutation_p.H653R	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	653						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCCTTCGTGCTTCACTGT	0.448													False	0	False	X:142716967	0	C	142716967	T	C	142716967	3	2	88	1	0	0	0	0	1	0	0	0	14825	1696	59	4	559	4	SLITRK4	23	142716967	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1720798	142716967	12553593	20743	28455											
SLITRK4	139065	broad.mit.edu	37	chrX	142717676	142717676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtgaaatacgtctccctTaatcactgtaatttgattgc	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:142717676T>C	ENST00000381779.4	-	2	1474	c.1249A>G	c.(1249-1251)Aag>Gag	p.K417E	SLITRK4_ENST00000338017.4_Missense_Mutation_p.K417E|SLITRK4_ENST00000356928.1_Missense_Mutation_p.K417E	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	417						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACGTCTCCCTTAATCACTGTA	0.383													False	0	False	X:142717676	0	C	142717676	T	C	142717676	3	2	88	1	0	0	0	0	1	0	0	0	14825	1763	61	4	1268	4	SLITRK4	23	142717676	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	709	142717676	12552884	20744	28456											
SLITRK2	84631	broad.mit.edu	37	chrX	144906288	144906288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgtaccttacctaaaaGgcagtttgccccttcctatg	6	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:144906288G>A	ENST00000370490.1	+	1	6600	c.2345G>A	c.(2344-2346)aGg>aAg	p.R782K	SLITRK2_ENST00000413937.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R782K			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	782						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TTACCTAAAAGGCAGTTTGCC	0.458													False	0	True	X:144906288	0	A	144906288	G	A	144906288	3	1	88	1	0	0	0	0	1	0	0	0	14823	1000	35	2	2347	2	SLITRK2	23	144906288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2188612	144906288	10364272	20745	28457											
FMR1	2332	broad.mit.edu	37	chrX	147024736	147024736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctagaccaccaccaaatcGtacagataaggaaaaaagct	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147024736G>A	ENST00000218200.8	+	13	1527	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	FMR1_ENST00000370475.4_Missense_Mutation_p.R454H|FMR1_ENST00000370477.1_Missense_Mutation_p.R433H|FMR1_ENST00000440235.2_Missense_Mutation_p.R101H|FMR1_ENST00000370470.1_Missense_Mutation_p.R454H|FMR1_ENST00000439526.2_Missense_Mutation_p.R431H|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000370471.3_Intron	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	454	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	p.R454P(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCAAATCGTACAGATAAG	0.448									Fragile X syndrome				False	0	False	X:147024736	0	A	147024736	G	A	147024736	3	1	88	1	0	0	0	0	1	0	0	0	6000	1145	40	1	1415	1	FMR1	23	147024736	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2118448	147024736	8245824	20746	28458											
FMR1	2332	broad.mit.edu	37	chrX	147026464	147026464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcagtgattggtcattagCtccaacagaggaagagaggg	13	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147026464C>A	ENST00000218200.8	+	14	1713	c.1484C>A	c.(1483-1485)gCt>gAt	p.A495D	FMR1_ENST00000370475.4_Missense_Mutation_p.A516D|FMR1_ENST00000370477.1_Missense_Mutation_p.A483D|FMR1_ENST00000440235.2_Missense_Mutation_p.A163D|FMR1_ENST00000370470.1_Splice_Site_p.A491D|FMR1_ENST00000439526.2_Missense_Mutation_p.A493D|FMR1_ENST00000370471.3_Splice_Site_p.L426I	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	516	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCATTAGCTCCAACAGAG	0.507									Fragile X syndrome				False	0	False	X:147026464	0	A	147026464	C	A	147026464	3	1	88	1	0	0	0	0	1	0	0	0	6000	811	28	3	1605	3	FMR1	23	147026464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1728	147026464	8244096	20747	28459											
FMR1NB	158521	broad.mit.edu	37	chrX	147063094	147063094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggcctcagccaggatggCgggaatctctaaagatgcgg	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147063094C>T	ENST00000370467.3	+	1	246	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	58						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGGATGGCGGGAATCTCT	0.557													False	0	True	X:147063094	0	T	147063094	C	T	147063094	3	4	88	1	0	0	0	0	1	0	0	0	6001	759	27	1	174	1	FMR1NB	23	147063094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36630	147063094	8207466	20748	28460											
AFF2	2334	broad.mit.edu	37	chrX	147744092	147744092	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcaaaacaagcatggggCagcaaaagccaactgcatac	9	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147744092C>T	ENST00000370460.2	+	3	1323	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	AFF2_ENST00000370458.1_Nonsense_Mutation_p.Q278*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.Q278*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.Q278*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	282					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCATGGGGCAGCAAAAGCC	0.507													False	0	True	X:147744092	0	T	147744092	C	T	147744092	4	4	88	1	0	0	0	0	0	1	0	0	357	711	25	2	854	2	AFF2	23	147744092	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	680998	147744092	7526468	20749	28461											
AFF2	2334	broad.mit.edu	37	chrX	148035155	148035155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctgcagtgcaagccagCgggggttctggcagctccag	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148035155C>T	ENST00000370460.2	+	10	1922	c.1443C>T	c.(1441-1443)agC>agT	p.S481S	AFF2_ENST00000342251.3_Silent_p.S448S|AFF2_ENST00000286437.5_Silent_p.S122S|AFF2_ENST00000370457.5_Silent_p.S448S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	481					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGCCAGCGGGGGTTCTG	0.522													False	0	True	X:148035155	0	T	148035155	C	T	148035155	2	4	88	1	0	0	0	0	0	0	0	1	357	767	27	1		1	AFF2	23	148035155	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291063	148035155	7235405	20750	28462											
AFF2	2334	broad.mit.edu	37	chrX	148049205	148049205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagctaagaagctgaagCacaaagctgatgcactggta	11	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148049205C>T	ENST00000370460.2	+	15	3729	c.3250C>T	c.(3250-3252)Cac>Tac	p.H1084Y	AFF2_ENST00000342251.3_Missense_Mutation_p.H1051Y|AFF2_ENST00000286437.5_Missense_Mutation_p.H725Y|AFF2_ENST00000370457.5_Missense_Mutation_p.H1049Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1084					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGCTGAAGCACAAAGCTGA	0.338													False	0	False	X:148049205	0	T	148049205	C	T	148049205	3	4	88	1	0	0	0	0	1	0	0	0	357	710	25	2	3363	2	AFF2	23	148049205	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14050	148049205	7221355	20751	28463											
AFF2	2334	broad.mit.edu	37	chrX	148069061	148069061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgaacactgggatatggCcgacaaactgacaagagaaa	10	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148069061C>T	ENST00000370460.2	+	20	4267	c.3788C>T	c.(3787-3789)gCc>gTc	p.A1263V	AFF2_ENST00000342251.3_Missense_Mutation_p.A1230V|AFF2_ENST00000286437.5_Missense_Mutation_p.A904V|AFF2_ENST00000370457.5_Missense_Mutation_p.A1228V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1263					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGATATGGCCGACAAACTG	0.478													False	0	False	X:148069061	0	T	148069061	C	T	148069061	3	4	88	1	0	0	0	0	1	0	0	0	357	739	26	2	3921	2	AFF2	23	148069061	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19856	148069061	7201499	20752	28464											
AFF2	2334	broad.mit.edu	37	chrX	148072854	148072854	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgcatcgatgcccacTtgttgtagtgggtgttctca	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148072854T>G	ENST00000370460.2	+	21	4407	c.3928T>G	c.(3928-3930)Ttg>Gtg	p.L1310V	AFF2_ENST00000342251.3_Missense_Mutation_p.L1277V|AFF2_ENST00000286437.5_Missense_Mutation_p.L951V|AFF2_ENST00000370457.5_Missense_Mutation_p.L1275V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1310					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CGATGCCCACTTGTTGTAGTG	0.562													False	0	False	X:148072854	0	G	148072854	T	G	148072854	3	3	88	1	0	0	0	0	1	0	0	0	357	1606	56	4	4065	4	AFF2	23	148072854	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3793	148072854	7197706	20753	28465											
MAGEA11	4110	broad.mit.edu	37	chrX	148797776	148797776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaagtacctcgcctgaCctgatagaccctgagtcctt	10	14	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148797776C>T	ENST00000355220.5	+	5	732	c.630C>T	c.(628-630)gaC>gaT	p.D210D	MAGEA11_ENST00000333104.4_Silent_p.D181D	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	210						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCTCGCCTGACCTGATAGACC	0.488													False	0	True	X:148797776	0	T	148797776	C	T	148797776	2	4	88	1	0	0	0	0	0	0	0	1	9228	506	18	2		2	MAGEA11	23	148797776	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	724922	148797776	6472784	20754	28466											
MAGEA11	4110	broad.mit.edu	37	chrX	148797891	148797891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatcacaaaggcagaaatgCtggggagtgtcatcaaaaat	11	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148797891C>A	ENST00000355220.5	+	5	847	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L220M	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	249	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGCAGAAATGCTGGGGAGTGT	0.413													False	0	False	X:148797891	0	A	148797891	C	A	148797891	3	1	88	1	0	0	0	0	1	0	0	0	9228	796	28	3	772	3	MAGEA11	23	148797891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115	148797891	6472669	20755	28467											
MAGEA8	4107	broad.mit.edu	37	chrX	149013843	149013843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtaccgccaggcgcccgGcagtgatcctgtgcgctacg	15	14	0	1	rs45577435		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149013843G>A	ENST00000535454.1	+	4	1346	c.797G>A	c.(796-798)gGc>gAc	p.G266D	MAGEA8_ENST00000286482.1_Missense_Mutation_p.G266D|MAGEA8_ENST00000542674.1_Missense_Mutation_p.G266D	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	266	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCGCCCGGCAGTGATCCT	0.572													False	0	False	X:149013843	0	A	149013843	G	A	149013843	3	1	88	1	0	0	0	0	1	0	0	0	9236	1203	42	2	799	2	MAGEA8	23	149013843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215952	149013843	6256717	20756	28468											
CXorf40B	541578	broad.mit.edu	37	chrX	149100935	149100935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctagttccacaacctcatCgggagttaagtcttcggggc	10	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149100935C>T	ENST00000370406.3	-	5	1132	c.304G>A	c.(304-306)Gat>Aat	p.D102N	CXorf40B_ENST00000462691.1_Missense_Mutation_p.D102N|CXorf40B_ENST00000370404.1_Missense_Mutation_p.D102N|CXorf40B_ENST00000355203.2_Missense_Mutation_p.D102N			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	102										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					ACAACCTCATCGGGAGTTAAG	0.473													False	0	True	X:149100935	0	T	149100935	C	T	149100935	3	4	88	1	0	0	0	0	1	0	0	0	4134	884	31	1	176	1	CXorf40B	23	149100935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87092	149100935	6169625	20757	28469											
CXorf40B	541578	broad.mit.edu	37	chrX	149101878	149101878	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaacttttcccctttcctgAgcaaggcctgaatctgagca	7	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149101878A>C	ENST00000370406.3	-	4	1043	c.215T>G	c.(214-216)cTc>cGc	p.L72R	CXorf40B_ENST00000462691.1_Missense_Mutation_p.L72R|CXorf40B_ENST00000370404.1_Missense_Mutation_p.L72R|CXorf40B_ENST00000355203.2_Missense_Mutation_p.L72R			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	72										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTTTCCTGAGCAAGGCCTG	0.562													False	0	False	X:149101878	0	C	149101878	A	C	149101878	3	2	88	1	0	0	0	0	1	0	0	0	4134	304	11	4	269	4	CXorf40B	23	149101878	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	943	149101878	6168682	20758	28470											
MAMLD1	10046	broad.mit.edu	37	chrX	149638350	149638350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatgagaaaatcaacagcGtgccggctgtagaccaggag	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149638350G>A	ENST00000370401.2	+	4	815	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	MAMLD1_ENST00000262858.5_Missense_Mutation_p.V169M|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000426613.2_Missense_Mutation_p.V144M|MAMLD1_ENST00000432680.2_Missense_Mutation_p.V144M			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	169					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.V96L(1)|p.V144L(1)|p.V169L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AATCAACAGCGTGCCGGCTGT	0.478													False	0	False	X:149638350	0	A	149638350	G	A	149638350	3	1	88	1	0	0	0	0	1	0	0	0	9275	1145	40	1	515	1	MAMLD1	23	149638350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	536472	149638350	5632210	20759	28471											
MTM1	4534	broad.mit.edu	37	chrX	149809786	149809786	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataacttttattaataagtgCtatgagctctgtgacactta	6	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149809786C>A	ENST00000370396.2	+	8	627	c.573C>A	c.(571-573)tgC>tgA	p.C191*	MTM1_ENST00000542741.1_Nonsense_Mutation_p.C96*|MTM1_ENST00000413012.2_Nonsense_Mutation_p.C154*|MTM1_ENST00000543350.1_Nonsense_Mutation_p.C76*|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	191	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTAATAAGTGCTATGAGCTCT	0.433													False	0	False	X:149809786	0	A	149809786	C	A	149809786	4	1	88	1	0	0	0	0	0	1	0	0	10004	805	28	3	599	3	MTM1	23	149809786	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171436	149809786	5460774	20760	28472											
MTMR1	8776	broad.mit.edu	37	chrX	149924229	149924229	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagacgagttttctaatccCttctttgtgaattatgaaaa	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149924229C>A	ENST00000445323.2	+	15	1870	c.1749C>A	c.(1747-1749)ccC>ccA	p.P583P	MTMR1_ENST00000544228.1_Silent_p.P575P|MTMR1_ENST00000370390.3_Silent_p.P575P|MTMR1_ENST00000541925.1_Silent_p.P481P|MTMR1_ENST00000538506.1_3'UTR			Q13613	MTMR1_HUMAN	myotubularin related protein 1	575	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTAATCCCTTCTTTGTGA	0.343													False	0	True	X:149924229	0	A	149924229	C	A	149924229	2	1	88	1	0	0	0	0	0	0	0	1	10005	668	24	3		3	MTMR1	23	149924229	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114443	149924229	5346331	20761	28473											
PASD1	139135	broad.mit.edu	37	chrX	150832667	150832667	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacccagtggacctggagttCtcggtggatcaggtggactc	15	10	2	0	rs147926578		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150832667C>A	ENST00000370357.4	+	11	1163	c.918C>A	c.(916-918)ttC>ttA	p.F306L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	306						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGGAGTTCTCGGTGGATC	0.582													False	0	False	X:150832667	0	A	150832667	C	A	150832667	3	1	88	1	0	0	0	0	1	0	0	0	11539	912	32	3	956	3	PASD1	23	150832667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	908438	150832667	4437893	20762	28474											
PRRG3	79057	broad.mit.edu	37	chrX	150868560	150868560	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccagggcaccatcgagCgagagtgcatggaggagatc	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150868560C>T	ENST00000370353.3	+	3	490	c.100C>T	c.(100-102)Cga>Tga	p.R34*	PRRG3_ENST00000538575.1_Nonsense_Mutation_p.R34*|PRRG3_ENST00000370354.1_Nonsense_Mutation_p.R42*			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	34	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CACCATCGAGCGAGAGTGCAT	0.562													False	0	True	X:150868560	0	T	150868560	C	T	150868560	4	4	88	1	0	0	0	0	0	1	0	0	12683	760	27	1	106	1	PRRG3	23	150868560	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35893	150868560	4402000	20763	28475											
FATE1	89885	broad.mit.edu	37	chrX	150889958	150889958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaatttccaaggcatacGtttccattatgatcggtaag	9	8	0	1	rs138889158	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150889958G>A	ENST00000370350.3	+	3	411	c.326G>A	c.(325-327)cGt>cAt	p.R109H		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	109						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGCATACGTTTCCATTAT	0.592													False	0	True	X:150889958	0	A	150889958	G	A	150889958	3	1	88	1	0	0	0	0	1	0	0	0	5733	1145	40	1	336	1	FATE1	23	150889958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21398	150889958	4380602	20764	28476											
CNGA2	1260	broad.mit.edu	37	chrX	150911635	150911635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactacatccacaccctgcaGttcaagctggatgtggcttc	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150911635G>A	ENST00000329903.4	+	6	693	c.660G>A	c.(658-660)caG>caA	p.Q220Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	220					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACACCCTGCAGTTCAAGCTGG	0.522													False	0	False	X:150911635	0	A	150911635	G	A	150911635	2	1	88	1	0	0	0	0	0	0	0	1	3620	1020	36	2		2	CNGA2	23	150911635	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21677	150911635	4358925	20765	28477											
MAGEA4	4103	broad.mit.edu	37	chrX	151092439	151092439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaagcacctcgcctgaCgcagagtccttgttccgaga	12	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151092439C>T	ENST00000360243.2	+	3	570	c.303C>T	c.(301-303)gaC>gaT	p.D101D	MAGEA4_ENST00000370337.4_Silent_p.D101D|MAGEA4_ENST00000276344.2_Silent_p.D101D|MAGEA4_ENST00000393920.1_Silent_p.D101D|MAGEA4_ENST00000393921.1_Silent_p.D101D|MAGEA4_ENST00000370340.3_Silent_p.D101D|MAGEA4_ENST00000370335.1_Silent_p.D101D	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	101							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGCCTGACGCAGAGTCCT	0.557													False	0	False	X:151092439	0	T	151092439	C	T	151092439	2	4	88	1	0	0	0	0	0	0	0	1	9233	535	19	1		1	MAGEA4	23	151092439	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180804	151092439	4178121	20766	28478											
GABRE	2564	broad.mit.edu	37	chrX	151124015	151124015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaaggtgcccaacgtgGtcatggtcagaacagaggtg	15	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151124015G>A	ENST00000370325.1	-	8	1015	c.962C>T	c.(961-963)aCc>aTc	p.T321I	GABRE_ENST00000370328.3_Missense_Mutation_p.T321I|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	321					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.T321I(1)|p.T208I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCAACGTGGTCATGGTCAG	0.498													False	0	True	X:151124015	0	A	151124015	G	A	151124015	3	1	88	1	0	0	0	0	1	0	0	0	6212	1261	44	2	566	2	GABRE	23	151124015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31576	151124015	4146545	20767	28479											
GABRE	2564	broad.mit.edu	37	chrX	151129810	151129810	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attggaaatctgagcatgtgGagtgagcatccggcatcaat	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151129810G>A	ENST00000370325.1	-	5	644	c.591C>T	c.(589-591)ctC>ctT	p.L197L	GABRE_ENST00000370328.3_Silent_p.L197L|GABRE_ENST00000393914.3_Intron			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	197					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGCATGTGGAGTGAGCATC	0.522													False	0	False	X:151129810	0	A	151129810	G	A	151129810	2	1	88	1	0	0	0	0	0	0	0	1	6212	1161	41	2		2	GABRE	23	151129810	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5795	151129810	4140750	20768	28480											
GABRQ	55879	broad.mit.edu	37	chrX	151818234	151818234	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggttgaagacatcatattaTtctgggatgacaatgggaac	11	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151818234T>G	ENST00000370306.2	+	6	660	c.640T>G	c.(640-642)Ttc>Gtc	p.F214V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	214						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CATCATATTATTCTGGGATGA	0.433													False	0	False	X:151818234	0	G	151818234	T	G	151818234	3	3	88	1	0	0	0	0	1	0	0	0	6217	1493	52	4	662	4	GABRQ	23	151818234	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	688424	151818234	3452326	20769	28481											
MAGEA3	4102	broad.mit.edu	37	chrX	151935444	151935444	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgagcagcttcttgggAtcccccaagatactgtcttc	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151935444A>C	ENST00000393902.3	-	3	1290	c.723T>G	c.(721-723)gaT>gaG	p.D241E	MAGEA3_ENST00000370278.3_Missense_Mutation_p.D241E			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	241	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCTTGGGATCCCCCAAGA	0.542													False	0	True	X:151935444	0	C	151935444	A	C	151935444	3	2	88	1	0	0	0	0	1	0	0	0	9232	330	12	4	225	4	MAGEA3	23	151935444	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	117210	151935444	3335116	20770	28482											
CETN2	1069	broad.mit.edu	37	chrX	151996394	151996394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacactgatcttaatagagGctggtctttttcatgatgcg	10	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151996394G>A	ENST00000370277.3	-	5	576	c.510C>T	c.(508-510)agC>agT	p.S170S	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	170	EF-hand 4.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAATAGAGGCTGGTCTTTT	0.408								Direct reversal of damage;Nucleotide excision repair (NER)					False	0	False	X:151996394	0	A	151996394	G	A	151996394	2	1	88	1	0	0	0	0	0	0	0	1	3298	1194	42	2		2	CETN2	23	151996394	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60950	151996394	3274166	20771	28483											
NSDHL	50814	broad.mit.edu	37	chrX	152037363	152037363	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatgatgagcccatccctttCtggacattcctgtctcgcat	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152037363C>A	ENST00000370274.3	+	8	1019	c.825C>A	c.(823-825)ttC>ttA	p.F275L	NSDHL_ENST00000440023.1_Missense_Mutation_p.F275L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	275					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CCATCCCTTTCTGGACATTCC	0.537													False	0	True	X:152037363	0	A	152037363	C	A	152037363	3	1	88	1	0	0	0	0	1	0	0	0	10738	912	32	3	851	3	NSDHL	23	152037363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40969	152037363	3233197	20772	28484											
PNMA5	114824	broad.mit.edu	37	chrX	152159032	152159032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcgctaaaagaccttgCctgcacggtggcctgaggtg	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152159032C>T	ENST00000439251.1	-	2	1549	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	PNMA5_ENST00000361887.5_Missense_Mutation_p.A371T|PNMA5_ENST00000452693.1_Missense_Mutation_p.A371T|PNMA5_ENST00000535214.1_Missense_Mutation_p.A371T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	371					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGACCTTGCCTGCACGGTG	0.587													False	0	False	X:152159032	0	T	152159032	C	T	152159032	3	4	88	1	0	0	0	0	1	0	0	0	12225	739	26	2	239	2	PNMA5	23	152159032	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121669	152159032	3111528	20773	28485											
ATP2B3	492	broad.mit.edu	37	chrX	152811581	152811581	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggccatggagagtagccagAccaaaggtaacgggcgccgc	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152811581A>T	ENST00000263519.4	+	6	1078	c.952A>T	c.(952-954)Acc>Tcc	p.T318S	ATP2B3_ENST00000349466.2_Missense_Mutation_p.T318S|ATP2B3_ENST00000393842.1_Intron|ATP2B3_ENST00000370181.2_Intron|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T318S|ATP2B3_ENST00000370186.1_Intron	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	318					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGTAGCCAGACCAAAGGTAA	0.642													False	0	False	X:152811581	0	T	152811581	A	T	152811581	3	4	88	1	0	0	0	0	1	0	0	0	1145	275	10	5	974	5	ATP2B3	23	152811581	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	652549	152811581	2458979	20774	28486											
PNCK	139728	broad.mit.edu	37	chrX	152937358	152937358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcccggtgcacgatccCcaggctgtgcaggtaggaga	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152937358C>T	ENST00000393831.2	-	5	825	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	PNCK_ENST00000340888.3_Missense_Mutation_p.G131R|PNCK_ENST00000370145.4_Missense_Mutation_p.G148R|PNCK_ENST00000447676.2_Missense_Mutation_p.G214R|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Missense_Mutation_p.G131R|PNCK_ENST00000370150.1_Missense_Mutation_p.G131R	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	131	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCACGATCCCCAGGCTGTGC	0.662													False	0	True	X:152937358	0	T	152937358	C	T	152937358	3	4	88	1	0	0	0	0	1	0	0	0	12214	623	22	2	668	2	PNCK	23	152937358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125777	152937358	2333202	20775	28487											
SLC6A8	6535	broad.mit.edu	37	chrX	152960076	152960076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtccttcttcaccccGctggtctgcatggtaagggc	12	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152960076G>A	ENST00000253122.5	+	11	2060	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	SLC6A8_ENST00000430077.2_Silent_p.P413P|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	528					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TCTTCACCCCGCTGGTCTGCA	0.652													False	0	True	X:152960076	0	A	152960076	G	A	152960076	2	1	88	1	0	0	0	0	0	0	0	1	14770	1074	38	1		1	SLC6A8	23	152960076	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22718	152960076	2310484	20776	28488											
PLXNB3	5365	broad.mit.edu	37	chrX	153032536	153032536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgagctgcagctcgaggCcgtggctgtcactggccctg	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032536C>T	ENST00000538966.1	+	4	594	c.323C>T	c.(322-324)gCc>gTc	p.A108V	PLXNB3_ENST00000361971.5_Missense_Mutation_p.A85V|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	85	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTCGAGGCCGTGGCTGTC	0.642													False	0	False	X:153032536	0	T	153032536	C	T	153032536	3	4	88	1	0	0	0	0	1	0	0	0	12194	739	26	2	378	2	PLXNB3	23	153032536	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72460	153032536	2238024	20777	28489											
PLXNB3	5365	broad.mit.edu	37	chrX	153032615	153032615	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgagtgcccacaggcccaGctcactgacaatgccaacca	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032615G>T	ENST00000538966.1	+	4	673	c.402G>T	c.(400-402)caG>caT	p.Q134H	PLXNB3_ENST00000361971.5_Missense_Mutation_p.Q111H|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	111	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CACAGGCCCAGCTCACTGACA	0.697													False	0	False	X:153032615	0	T	153032615	G	T	153032615	3	4	88	1	0	0	0	0	1	0	0	0	12194	962	34	3	457	3	PLXNB3	23	153032615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	153032615	2237945	20778	28490											
PLXNB3	5365	broad.mit.edu	37	chrX	153032912	153032912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatccgccagctggccggGtctcagcccttctccagcga	11	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032912G>A	ENST00000538966.1	+	4	970	c.699G>A	c.(697-699)ggG>ggA	p.G233G	PLXNB3_ENST00000361971.5_Silent_p.G210G|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	210	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGGCCGGGTCTCAGCCCT	0.716													False	0	True	X:153032912	0	A	153032912	G	A	153032912	2	1	88	1	0	0	0	0	0	0	0	1	12194	1248	44	2		2	PLXNB3	23	153032912	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297	153032912	2237648	20779	28491											
PLXNB3	5365	broad.mit.edu	37	chrX	153037356	153037356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccctgagggaggcttggCcctcaccatcctgggctcca	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153037356C>T	ENST00000538966.1	+	16	2895	c.2624C>T	c.(2623-2625)gCc>gTc	p.A875V	PLXNB3_ENST00000361971.5_Missense_Mutation_p.A852V|PLXNB3_ENST00000538543.1_3'UTR|PLXNB3_ENST00000538282.1_Missense_Mutation_p.A462V|PLXNB3_ENST00000538776.1_Missense_Mutation_p.A505V	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	852	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCTTGGCCCTCACCATC	0.687													False	0	True	X:153037356	0	T	153037356	C	T	153037356	3	4	88	1	0	0	0	0	1	0	0	0	12194	739	26	2	2727	2	PLXNB3	23	153037356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4444	153037356	2233204	20780	28492											
PLXNB3	5365	broad.mit.edu	37	chrX	153038807	153038807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctcgccagccccttccGctacaccgccaacccccagc	6	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153038807G>A	ENST00000538966.1	+	19	3369	c.3098G>A	c.(3097-3099)cGc>cAc	p.R1033H	PLXNB3_ENST00000361971.5_Missense_Mutation_p.R1010H|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R620H|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R663H	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1010	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCTTCCGCTACACCGCC	0.692													False	0	False	X:153038807	0	A	153038807	G	A	153038807	3	1	88	1	0	0	0	0	1	0	0	0	12194	1087	38	1	3213	1	PLXNB3	23	153038807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1451	153038807	2231753	20781	28493											
IDH3G	3421	broad.mit.edu	37	chrX	153053284	153053284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccccatgcacacctcatgCtccaggctgctgtactcgcc	7	20	1	0	rs148318932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153053284C>A	ENST00000370092.3	-	7	719	c.534G>T	c.(532-534)gaG>gaT	p.E178D	IDH3G_ENST00000217901.5_Missense_Mutation_p.E178D|IDH3G_ENST00000427365.2_Missense_Mutation_p.E120D|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.E178D	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	178					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	ACACCTCATGCTCCAGGCTGC	0.592													False	0	False	X:153053284	0	A	153053284	C	A	153053284	3	1	88	1	0	0	0	0	1	0	0	0	7548	796	28	3	738	3	IDH3G	23	153053284	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14477	153053284	2217276	20782	28494											
AVPR2	0	broad.mit.edu	37	chrX	153171699	153171710	+	In_Frame_Del	DEL	CGCCGCAGGGGA	CGCCGCAGGGGA	-													catcagagaggcctggggggCgccgcaggggacgccggaca					rs34709504	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	CGCCGCAGGGGA	CGCCGCAGGGGA	-	-	CGCCGCAGGGGA	CGCCGCAGGGGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153171699_153171710delCGCCGCAGGGGA	ENST00000358927.2	+	3	948_959	c.739_750delCGCCGCAGGGGA	c.(739-750)cgccgcaggggadel	p.RRRG247del	AVPR2_ENST00000337474.5_In_Frame_Del_p.RRRG247del|AVPR2_ENST00000370049.1_In_Frame_Del_p.RRRG247del			P30518	V2R_HUMAN	arginine vasopressin receptor 2	247			Missing (in XNDI).|R -> H (in a breast cancer sample; somatic mutation).		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	p.R247_G250delRRRG(2)|p.R247H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCTGGGGGGCGCCGCAGGGGACGCCGGACAG	0.646													False	1	True	X:153171699	0	-	153171710	CGCCGCAGGGGA	-	153171699	7	5	88	1	0	1	0	1	0	0	0	0	1237	768	27	0	745	0	AVPR2	23	153171699	In_Frame_Del	DEL	CGCCGCAGGGGA	TCGA-IB-7651-01A-11D-2154-08	118415	153171699	2098861	20783	28495											
AVPR2	0	broad.mit.edu	37	chrX	153172136	153172136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctgggtccccaagatgagtCctgcaccaccgccagctcct	9	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153172136C>A	ENST00000358927.2	+	4	1279	c.1070C>A	c.(1069-1071)tCc>tAc	p.S357Y	AVPR2_ENST00000370049.1_3'UTR|AVPR2_ENST00000337474.5_Missense_Mutation_p.S357Y			P30518	V2R_HUMAN	arginine vasopressin receptor 2	357					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CAAGATGAGTCCTGCACCACC	0.602													False	0	False	X:153172136	0	A	153172136	C	A	153172136	3	1	88	1	0	0	0	0	1	0	0	0	1237	855	30	3	1100	3	AVPR2	23	153172136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	437	153172136	2098424	20784	28496											
RENBP	5973	broad.mit.edu	37	chrX	153208501	153208501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcctgcacccagtggaCgatctgatccatcatctcca	7	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153208501C>T	ENST00000412763.1	-	6	662	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	RENBP_ENST00000393700.3_Missense_Mutation_p.V165I|RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.V151I			P51606	RENBP_HUMAN	renin binding protein	165					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACCCAGTGGACGATCTGATCC	0.687													False	0	False	X:153208501	0	T	153208501	C	T	153208501	3	4	88	1	0	0	0	0	1	0	0	0	13304	536	19	1	814	1	RENBP	23	153208501	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36365	153208501	2062059	20785	28497											
HCFC1	3054	broad.mit.edu	37	chrX	153219959	153219959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttggtggtgcctgtctcGtgggtctcacatggtgggtt	17	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153219959G>A	ENST00000310441.7	-	17	4857	c.3891C>T	c.(3889-3891)caC>caT	p.H1297H	HCFC1_ENST00000354233.3_Silent_p.H1228H|HCFC1_ENST00000369984.4_Silent_p.H1297H	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1297					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTGTCTCGTGGGTCTCAC	0.662													False	0	False	X:153219959	0	A	153219959	G	A	153219959	2	1	88	1	0	0	0	0	0	0	0	1	7038	1136	40	1		1	HCFC1	23	153219959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11458	153219959	2050601	20786	28498											
HCFC1	3054	broad.mit.edu	37	chrX	153221812	153221812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgctgtggccccccgcccCggcaaggctggtggagacgg	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153221812C>T	ENST00000310441.7	-	16	3652	c.2686G>A	c.(2686-2688)Ggg>Agg	p.G896R	HCFC1_ENST00000354233.3_Missense_Mutation_p.G827R|HCFC1_ENST00000369984.4_Missense_Mutation_p.G896R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	896	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCCGCCCCGGCAAGGCTG	0.632													False	0	True	X:153221812	0	T	153221812	C	T	153221812	3	4	88	1	0	0	0	0	1	0	0	0	7038	652	23	1	3465	1	HCFC1	23	153221812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1853	153221812	2048748	20787	28499											
HCFC1	3054	broad.mit.edu	37	chrX	153223480	153223480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacccatcactcaccagaGcactgcctcctgggacagag	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153223480G>A	ENST00000310441.7	-	11	2990	c.2024C>T	c.(2023-2025)gCt>gTt	p.A675V	HCFC1_ENST00000354233.3_Missense_Mutation_p.A606V|HCFC1_ENST00000369984.4_Missense_Mutation_p.A675V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	675	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACCAGAGCACTGCCTCC	0.642													False	0	False	X:153223480	0	A	153223480	G	A	153223480	3	1	88	1	0	0	0	0	1	0	0	0	7038	971	34	2	4147	2	HCFC1	23	153223480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1668	153223480	2047080	20788	28500											
TMEM187	8269	broad.mit.edu	37	chrX	153247784	153247784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgaaggacgtgttcgcaGccatggccctgctctatggc	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153247784G>A	ENST00000369982.4	+	2	1018	c.271G>A	c.(271-273)Gcc>Acc	p.A91T		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	91						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGTTCGCAGCCATGGCCCT	0.682													False	0	False	X:153247784	0	A	153247784	G	A	153247784	3	1	88	1	0	0	0	0	1	0	0	0	16191	971	34	2	273	2	TMEM187	23	153247784	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24304	153247784	2022776	20789	28501											
TMEM187	8269	broad.mit.edu	37	chrX	153248033	153248033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgctcacgtggtggccGctgtggggcaggcgctgcgc	20	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153248033G>A	ENST00000369982.4	+	2	1267	c.520G>A	c.(520-522)Gct>Act	p.A174T		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	174						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGGTGGCCGCTGTGGGGCA	0.637													False	0	False	X:153248033	0	A	153248033	G	A	153248033	3	1	88	1	0	0	0	0	1	0	0	0	16191	1087	38	1	522	1	TMEM187	23	153248033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249	153248033	2022527	20790	28502											
FLNA	0	broad.mit.edu	37	chrX	153577360	153577361	+	Frame_Shift_Ins	INS	-	-	T													ttcaccaggatctcctcgcaINSgggggtccttgggccatgaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153577360_153577361insT	ENST00000344736.4	-	45	7722_7723	c.7680_7681insA	c.(7678-7683)ccctgcfs	p.C2561fs	FLNA_ENST00000369856.3_Frame_Shift_Ins_p.C734fs|FLNA_ENST00000360319.4_Frame_Shift_Ins_p.C2593fs|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000369850.3_Frame_Shift_Ins_p.C2601fs|FLNA_ENST00000422373.1_Frame_Shift_Ins_p.C2593fs			P21333	FLNA_HUMAN	filamin A, alpha	2601	Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATCTCCTCGCAGGGGGTCCTTG	0.634													False	0	True	X:153577360	0	T	153577361	-	T	153577360	7	5	88	1	0	1	1	0	0	0	0	0	5973	188	7	0	146	0	FLNA	23	153577360	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	329327	153577360	1693200	20791	28503											
FLNA	0	broad.mit.edu	37	chrX	153580292	153580292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacaccacaggagccgtcCttgcggtcctcaaaagagat	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153580292C>A	ENST00000422373.1	-	41	7091	c.6843G>T	c.(6841-6843)aaG>aaT	p.K2281N	FLNA_ENST00000344736.4_Missense_Mutation_p.K2249N|FLNA_ENST00000369850.3_Missense_Mutation_p.K2289N|FLNA_ENST00000369856.3_Missense_Mutation_p.K422N|FLNA_ENST00000360319.4_Missense_Mutation_p.K2281N	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2289					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGAGCCGTCCTTGCGGTCCT	0.622													False	0	False	X:153580292	0	A	153580292	C	A	153580292	3	1	88	1	0	0	0	0	1	0	0	0	5973	680	24	3	1104	3	FLNA	23	153580292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2932	153580292	1690268	20792	28504											
FLNA	0	broad.mit.edu	37	chrX	153588685	153588685	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagcacttgactttggatgCgtcaaagcagggaaccacgt	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153588685C>A	ENST00000422373.1	-	22	3726	c.3478G>T	c.(3478-3480)Gca>Tca	p.A1160S	FLNA_ENST00000344736.4_Missense_Mutation_p.A1160S|FLNA_ENST00000369850.3_Missense_Mutation_p.A1160S|FLNA_ENST00000360319.4_Missense_Mutation_p.A1160S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1160					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTTTGGATGCGTCAAAGCAG	0.652											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	X:153588685	0	A	153588685	C	A	153588685	3	1	88	1	0	0	0	0	1	0	0	0	5973	768	27	3	4573	3	FLNA	23	153588685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8393	153588685	1681875	20793	28505											
FLNA	0	broad.mit.edu	37	chrX	153590625	153590625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccagtgcgactgaggcCagggccctcggccttcacct	11	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153590625C>T	ENST00000422373.1	-	18	2889	c.2641G>A	c.(2641-2643)Ggc>Agc	p.G881S	FLNA_ENST00000344736.4_Missense_Mutation_p.G881S|FLNA_ENST00000369850.3_Missense_Mutation_p.G881S|FLNA_ENST00000360319.4_Missense_Mutation_p.G881S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	881					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGACTGAGGCCAGGGCCCTCG	0.662													False	0	False	X:153590625	0	T	153590625	C	T	153590625	3	4	88	1	0	0	0	0	1	0	0	0	5973	594	21	2	5426	2	FLNA	23	153590625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1940	153590625	1679935	20794	28506											
FLNA	0	broad.mit.edu	37	chrX	153592400	153592400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggctcaccctgaaggggCtgttggggatgctgacgcct	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153592400C>T	ENST00000422373.1	-	15	2518	c.2270G>A	c.(2269-2271)aGc>aAc	p.S757N	FLNA_ENST00000344736.4_Missense_Mutation_p.S757N|FLNA_ENST00000369850.3_Missense_Mutation_p.S757N|FLNA_ENST00000360319.4_Missense_Mutation_p.S757N	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	757					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGAAGGGGCTGTTGGGGAT	0.572													False	0	True	X:153592400	0	T	153592400	C	T	153592400	3	4	88	1	0	0	0	0	1	0	0	0	5973	797	28	2	5809	2	FLNA	23	153592400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1775	153592400	1678160	20795	28507											
FLNA	0	broad.mit.edu	37	chrX	153592426	153592426	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatgctgacgcctccccaGgacaccatggctgtgtgctt	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153592426G>T	ENST00000422373.1	-	15	2492	c.2244C>A	c.(2242-2244)tcC>tcA	p.S748S	FLNA_ENST00000344736.4_Silent_p.S748S|FLNA_ENST00000369850.3_Silent_p.S748S|FLNA_ENST00000360319.4_Silent_p.S748S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	748					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCTCCCCAGGACACCATGG	0.597													False	0	False	X:153592426	0	T	153592426	G	T	153592426	2	4	88	1	0	0	0	0	0	0	0	1	5973	987	35	3		3	FLNA	23	153592426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	153592426	1678134	20796	28508											
RPL10	6134	broad.mit.edu	37	chrX	153627922	153627922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcagatgaatatgagcaGctgtcctctgaaggtaaggc	13	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153627922G>A	ENST00000424325.2	+	4	365	c.177G>A	c.(175-177)caG>caA	p.Q59Q	RPL10_ENST00000369817.2_Silent_p.Q59Q|RPL10_ENST00000406022.2_Silent_p.Q8Q	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	59					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATATGAGCAGCTGTCCTCTG	0.507													False	0	False	X:153627922	0	A	153627922	G	A	153627922	2	1	88	1	0	0	0	0	0	0	0	1	13633	962	34	2		2	RPL10	23	153627922	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35496	153627922	1642638	20797	28509											
TAZ	6901	broad.mit.edu	37	chrX	153641878	153641878	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acactcccacttcttcagctTgggcaagtgtgtgcctgtgt	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153641878T>G	ENST00000299328.5	+	4	633	c.344T>G	c.(343-345)tTg>tGg	p.L115W	TAZ_ENST00000350743.4_Missense_Mutation_p.L115W|TAZ_ENST00000475699.1_Missense_Mutation_p.L115W|TAZ_ENST00000369790.4_Missense_Mutation_p.L115W|TAZ_ENST00000351413.4_Missense_Mutation_p.L115W|TAZ_ENST00000369776.4_Missense_Mutation_p.L90W	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	115					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCTTCAGCTTGGGCAAGTGT	0.592													False	0	True	X:153641878	0	G	153641878	T	G	153641878	3	3	88	1	0	0	0	0	1	0	0	0	15678	1821	63	4	358	4	TAZ	23	153641878	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13956	153641878	1628682	20798	28510											
ATP6AP1	537	broad.mit.edu	37	chrX	153663798	153663798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaagaagggtagtctcCtcgtggcccgcacgcagccc	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153663798C>A	ENST00000369762.2	+	9	1211	c.1150C>A	c.(1150-1152)Ctc>Atc	p.L384I		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	384					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGTAGTCTCCTCGTGGCCCG	0.622													False	0	False	X:153663798	0	A	153663798	C	A	153663798	3	1	88	1	0	0	0	0	1	0	0	0	1169	681	24	3	1184	3	ATP6AP1	23	153663798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21920	153663798	1606762	20799	28511											
PLXNA3	55558	broad.mit.edu	37	chrX	153691782	153691782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtatgagacagtccccGtggtggatggcagccccatc	12	13	0	1	rs143738443		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153691782G>A	ENST00000369682.3	+	5	1541	c.1366G>A	c.(1366-1368)Gtg>Atg	p.V456M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	456	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACAGTCCCCGTGGTGGATGG	0.637													False	0	True	X:153691782	0	A	153691782	G	A	153691782	3	1	88	1	0	0	0	0	1	0	0	0	12190	1145	40	1	1380	1	PLXNA3	23	153691782	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27984	153691782	1578778	20800	28512											
PLXNA3	55558	broad.mit.edu	37	chrX	153692584	153692584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcggagaacgaggcggtcCtgctgccctccggtgaactg	16	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153692584C>A	ENST00000369682.3	+	8	1931	c.1756C>A	c.(1756-1758)Ctg>Atg	p.L586M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	586					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGAGGCGGTCCTGCTGCCCTC	0.687													False	0	False	X:153692584	0	A	153692584	C	A	153692584	3	1	88	1	0	0	0	0	1	0	0	0	12190	680	24	3	1782	3	PLXNA3	23	153692584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	802	153692584	1577976	20801	28513											
PLXNA3	55558	broad.mit.edu	37	chrX	153694277	153694277	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgcccatcctgctccacaGatccaccctctcgtggggcc	8	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153694277G>A	ENST00000369682.3	+	14	2707		c.e14-1			NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3						axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCTCCACAGATCCACCCTC	0.677													False	0	False	X:153694277	0	A	153694277	G	A	153694277	5	1	88	1	0	0	0	0	0	0	1	0	12190	956	33	2	2582	2	PLXNA3	23	153694277	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1693	153694277	1576283	20802	28514											
PLXNA3	55558	broad.mit.edu	37	chrX	153695925	153695925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggcagccggcagctcccGcctcaactacactgtgctga	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153695925G>A	ENST00000369682.3	+	20	3654	c.3479G>A	c.(3478-3480)cGc>cAc	p.R1160H		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1160	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCAGCTCCCGCCTCAACTAC	0.657													False	0	True	X:153695925	0	A	153695925	G	A	153695925	3	1	88	1	0	0	0	0	1	0	0	0	12190	1087	38	1	3553	1	PLXNA3	23	153695925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1648	153695925	1574635	20803	28515											
PLXNA3	55558	broad.mit.edu	37	chrX	153697552	153697552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccaaagctgaggacatgGacctgggtgaggtccccacc	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153697552G>A	ENST00000369682.3	+	26	4763	c.4588G>A	c.(4588-4590)Gac>Aac	p.D1530N	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1530					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAGGACATGGACCTGGGTGA	0.602													False	0	False	X:153697552	0	A	153697552	G	A	153697552	3	1	88	1	0	0	0	0	1	0	0	0	12190	1174	41	2	4686	2	PLXNA3	23	153697552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1627	153697552	1573008	20804	28516											
PLXNA3	55558	broad.mit.edu	37	chrX	153698803	153698803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcacactgcagaagttcGtggatgacctctttgagaca	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153698803G>A	ENST00000369682.3	+	30	5180	c.5005G>A	c.(5005-5007)Gtg>Atg	p.V1669M	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1669					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGAAGTTCGTGGATGACCT	0.607													False	0	False	X:153698803	0	A	153698803	G	A	153698803	3	1	88	1	0	0	0	0	1	0	0	0	12190	1145	40	1	5119	1	PLXNA3	23	153698803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1251	153698803	1571757	20805	28517											
PLXNA3	55558	broad.mit.edu	37	chrX	153698908	153698908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgagcaggcggaccagCgccagatcagcgaccccgat	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153698908C>T	ENST00000369682.3	+	30	5285	c.5110C>T	c.(5110-5112)Cgc>Tgc	p.R1704C	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1704					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCGGACCAGCGCCAGATCAG	0.632													False	0	False	X:153698908	0	T	153698908	C	T	153698908	3	4	88	1	0	0	0	0	1	0	0	0	12190	768	27	1	5224	1	PLXNA3	23	153698908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105	153698908	1571652	20806	28518											
SLC10A3	8273	broad.mit.edu	37	chrX	153716401	153716401	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagaagccagtggcagcCaccgtagagaggaaagtcat	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153716401C>A	ENST00000263512.4	-	2	1377	c.879G>T	c.(877-879)gtG>gtT	p.V293V	SLC10A3_ENST00000393587.4_Silent_p.V293V|SLC10A3_ENST00000369649.4_Silent_p.V264V|SLC10A3_ENST00000393586.1_Silent_p.V348V	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	293					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGTGGCAGCCACCGTAGAGA	0.627													False	0	False	X:153716401	0	A	153716401	C	A	153716401	2	1	88	1	0	0	0	0	0	0	0	1	14456	581	21	3		3	SLC10A3	23	153716401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17493	153716401	1554159	20807	28519											
SLC10A3	8273	broad.mit.edu	37	chrX	153716810	153716810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgctcctcaatcagtgtgGgcggggcctcatgggcgtcc	14	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153716810G>T	ENST00000263512.4	-	2	968	c.470C>A	c.(469-471)cCc>cAc	p.P157H	SLC10A3_ENST00000393587.4_Missense_Mutation_p.P157H|SLC10A3_ENST00000369649.4_Missense_Mutation_p.P128H|SLC10A3_ENST00000393586.1_Missense_Mutation_p.P212H	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	157					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATCAGTGTGGGCGGGGCCTC	0.647													False	0	True	X:153716810	0	T	153716810	G	T	153716810	3	4	88	1	0	0	0	0	1	0	0	0	14456	1232	43	3	967	3	SLC10A3	23	153716810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	409	153716810	1553750	20808	28520											
GAB3	139716	broad.mit.edu	37	chrX	153927748	153927748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacatagctgtcttcgataCtggctgaagctgtggggtac	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153927748C>T	ENST00000369575.3	-	6	1194	c.1163G>A	c.(1162-1164)aGt>aAt	p.S388N	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.S389N	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	388										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTCTTCGATACTGGCTGAAGC	0.532													False	0	False	X:153927748	0	T	153927748	C	T	153927748	3	4	88	1	0	0	0	0	1	0	0	0	6192	565	20	2	617	2	GAB3	23	153927748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210938	153927748	1342812	20809	28521											
F8	2157	broad.mit.edu	37	chrX	154156894	154156894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcccataatcccagagcCtctccactgcagcaataaaa	4	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154156894C>T	ENST00000360256.4	-	14	5371	c.5171G>A	c.(5170-5172)aGg>aAg	p.R1724K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1724	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCCCAGAGCCTCTCCACTGC	0.408													False	0	False	X:154156894	0	T	154156894	C	T	154156894	3	4	88	1	0	0	0	0	1	0	0	0	5383	681	24	2	1964	2	F8	23	154156894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229146	154156894	1113666	20810	28522											
F8	2157	broad.mit.edu	37	chrX	154175987	154175987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actaacctgggttttccatcGacatgaagacagtttctcct	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154175987G>A	ENST00000360256.4	-	13	2299	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	700	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.S700L(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTTTTCCATCGACATGAAGAC	0.408													False	0	False	X:154175987	0	A	154175987	G	A	154175987	3	1	88	1	0	0	0	0	1	0	0	0	5383	1059	37	1	5040	1	F8	23	154175987	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19093	154175987	1094573	20811	28523											
CLIC2	1193	broad.mit.edu	37	chrX	154507346	154507346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagtcacgatatttcttgGcagcaacctagaattttgca	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154507346G>A	ENST00000369449.2	-	6	808	c.590C>T	c.(589-591)gCc>gTc	p.A197V	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	197	C-terminal.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATATTTCTTGGCAGCAACCTA	0.398													False	0	False	X:154507346	0	A	154507346	G	A	154507346	3	1	88	1	0	0	0	0	1	0	0	0	3549	1203	42	2	157	2	CLIC2	23	154507346	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331359	154507346	763214	20812	28524											
VPS13D	55187	broad.mit.edu	37	chr1	12316444	12316444	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcactacgtcctggagcctGtgtttgcatctgctcttttg	9	11	3	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:12316444G>C	ENST00000358136.3	+	8	854	c.724G>C	c.(724-726)Gtg>Ctg	p.V242L	VPS13D_ENST00000356315.4_Missense_Mutation_p.V242L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	242					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTGGAGCCTGTGTTTGCATC	0.542													False	0	False	1:12316444	0	C	12316444	G	C	12316444	3	2	89	1	0	0	0	0	1	0	0	0	17276	1377	48	5	750	5	VPS13D	1	12316444	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		12316444	236934177	1	28525											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	89	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-IB-7652-01A-11D-2154-08	10670941	22987385	226263236	2	28526											
CSMD2	114784	broad.mit.edu	37	chr1	34068023	34068023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaggctgaggttgaggCggacgccatggccaatgggc	18	10	0	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:34068023C>T	ENST00000373381.4	-	43	6832	c.6656G>A	c.(6655-6657)cGc>cAc	p.R2219H	CSMD2_ENST00000373377.1_Missense_Mutation_p.R318H|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R1092H|CSMD2_ENST00000373388.2_Missense_Mutation_p.R318H	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2221	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGGTTGAGGCGGACGCCATG	0.577													False	0	False	1:34068023	0	T	34068023	C	T	34068023	3	4	89	1	0	0	0	0	1	0	0	0	3970	768	27	1	3905	1	CSMD2	1	34068023	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	11080638	34068023	215182598	3	28527											
ZFYVE9	9372	broad.mit.edu	37	chr1	52740258	52740258	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccactggtgtaaaaggaggTaagtggactacatatttaaa	10	5	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:52740258T>C	ENST00000287727.3	+	8	2918		c.e8+2		ZFYVE9_ENST00000357206.2_Splice_Site|ZFYVE9_ENST00000371591.1_Splice_Site			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9						endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TAAAAGGAGGTAAGTGGACTA	0.398													False	0	False	1:52740258	0	C	52740258	T	C	52740258	5	2	89	1	0	0	0	0	0	0	1	0	17754	1652	57	4	2781	4	ZFYVE9	1	52740258	Splice_Site	SNP	T	TCGA-IB-7652-01A-11D-2154-08	18672235	52740258	196510363	4	28528											
KCNA2	3737	broad.mit.edu	37	chr1	111147355	111147355	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataggtgtcctgtgggtgcCcagggagggcagcagcctcg	17	11	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:111147355C>A	ENST00000485317.1	-	3	723	c.50G>T	c.(49-51)gGg>gTg	p.G17V	KCNA2_ENST00000369770.3_Missense_Mutation_p.G17V|KCNA2_ENST00000440270.1_Missense_Mutation_p.G17V|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.G17V			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	17						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CTGTGGGTGCCCAGGGAGGGC	0.597													False	0	True	1:111147355	0	A	111147355	C	A	111147355	3	1	89	1	0	0	0	0	1	0	0	0	8053	623	22	3	1453	3	KCNA2	1	111147355	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	58407097	111147355	138103266	5	28529											
FLG	2312	broad.mit.edu	37	chr1	152276974	152276985	+	In_Frame_Del	DEL	TGGGACCCTGAG	TGGGACCCTGAG	-													gggatgtggtgtggctgtgaTgggaccctgagtgtccagac					rs140294281	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TGGGACCCTGAG	TGGGACCCTGAG	-	-	TGGGACCCTGAG	TGGGACCCTGAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:152276974_152276985delTGGGACCCTGAG	ENST00000368799.1	-	3	10412_10423	c.10377_10388delCTCAGGGTCCCA	c.(10375-10389)cactcagggtcccat>cat	p.3459_3463HSGSH>H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3459	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G3461W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCTGTGATGGGACCCTGAGTGTCCAGACC	0.571									Ichthyosis				False	1	True	1:152276974	0	-	152276985	TGGGACCCTGAG	-	152276974	7	5	89	1	0	1	0	1	0	0	0	0	5962	1464	51	0	1801	0	FLG	1	152276974	In_Frame_Del	DEL	TGGGACCCTGAG	TCGA-IB-7652-01A-11D-2154-08	41129619	152276974	96973647	6	28530											
FLG	2312	broad.mit.edu	37	chr1	152284997	152284997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaggaaagaccctgaacGtcgagacctttcccctgacc	10	13	0	5			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:152284997G>A	ENST00000368799.1	-	3	2400	c.2365C>T	c.(2365-2367)Cgt>Tgt	p.R789C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	789	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAACGTCGAGACCTT	0.567									Ichthyosis				False	0	False	1:152284997	0	A	152284997	G	A	152284997	3	1	89	1	0	0	0	0	1	0	0	0	5962	1145	40	1	9824	1	FLG	1	152284997	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	8023	152284997	96965624	7	28531											
FMO1	2326	broad.mit.edu	37	chr1	171254564	171254564	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcatgacccagtgggacCgaacattcaaggtcatcaaa	8	12	4	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:171254564C>T	ENST00000354841.4	+	8	1611	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	FMO1_ENST00000367750.3_Nonsense_Mutation_p.R494*|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R431*|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	494					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAGTGGGACCGAACATTCAA	0.478													False	0	False	1:171254564	0	T	171254564	C	T	171254564	4	4	89	1	0	0	0	0	0	1	0	0	5994	644	23	1	1510	1	FMO1	1	171254564	Nonsense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	18969567	171254564	77996057	8	28532											
ASPM	259266	broad.mit.edu	37	chr1	197071382	197071382	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagtagcagccctgtgcatCtctcgcatccttttccttat	6	13	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:197071382C>T	ENST00000367409.4	-	18	7255	c.6999G>A	c.(6997-6999)gaG>gaA	p.E2333E	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2333	IQ 22.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCCTGTGCATCTCTCGCATCC	0.408													False	0	True	1:197071382	0	T	197071382	C	T	197071382	2	4	89	1	0	0	0	0	0	0	0	1	1060	912	32	2		2	ASPM	1	197071382	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	25816818	197071382	52179239	9	28533											
PCNXL2	80003	broad.mit.edu	37	chr1	233394271	233394271	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttcacttccattgccttcgGgacagggaacacctcctccc	7	16	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:233394271G>C	ENST00000258229.9	-	5	1571	c.1337C>G	c.(1336-1338)cCc>cGc	p.P446R	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATTGCCTTCGGGACAGGGAAC	0.572													False	0	True	1:233394271	0	C	233394271	G	C	233394271	3	2	89	1	0	0	0	0	1	0	0	0	11660	1232	43	5	5196	5	PCNXL2	1	233394271	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	36322889	233394271	15856350	10	28534											
LRP1B	53353	broad.mit.edu	37	chr2	141641448	141641448	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgctattagtgtagtTcttagggagccatctagttt	10	8	2	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:141641448T>A	ENST00000389484.3	-	25	5078	c.4107A>T	c.(4105-4107)agA>agT	p.R1369S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1369					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTAGTGTAGTTCTTAGGGAGC	0.458										TSP Lung(27;0.18)			False	0	False	2:141641448	0	A	141641448	T	A	141641448	3	1	89	1	0	0	0	0	1	0	0	0	9017	1780	62	5	9960	5	LRP1B	2	141641448	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08		141641448	101557925	11	28535											
SCN1A	6323	broad.mit.edu	37	chr2	166848439	166848439	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagttctccaggatgaccgcGatgtacatgttcaccacaac	8	12	2	1	rs121918763		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:166848439G>A	ENST00000423058.2	-	26	5363	c.5346C>T	c.(5344-5346)atC>atT	p.I1782I	SCN1A_ENST00000409050.1_Silent_p.I1754I|SCN1A_ENST00000303395.4_Silent_p.I1782I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I1771I|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1782			I -> M (in SMEI; dbSNP:rs121918763).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGATGACCGCGATGTACATGT	0.443													False	0	False	2:166848439	0	A	166848439	G	A	166848439	2	1	89	1	0	0	0	0	0	0	0	1	13995	1048	37	1		1	SCN1A	2	166848439	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	25206991	166848439	76350934	12	28536											
SCN9A	6335	broad.mit.edu	37	chr2	167055876	167055877	+	In_Frame_Ins	INS	-	-	GAATTCTTCTGTTGGAGATGGTCATCCTCTTCGGCAGAG													actaaaattctccagtatgaINSctgcaatgtacatgttcacc							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:167055876_167055877insGAATTCTTCTGTTGGAGATGGTCATCCTCTTCGGCAGAG	ENST00000409672.1	-	27	5585_5586	c.5239_5240insCTCTGCCGAAGAGGATGACCATCTCCAACAGAAGAATTC	c.(5239-5241)gtc>gCTCTGCCGAAGAGGATGACCATCTCCAACAGAAGAATTCtc	p.1747_1747V>ALPKRMTISNRRIL	SCN9A_ENST00000303354.6_In_Frame_Ins_p.1759_1759V>ALPKRMTISNRRIL|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_In_Frame_Ins_p.1758_1758V>ALPKRMTISNRRIL|SCN9A_ENST00000375387.4_In_Frame_Ins_p.1759_1759V>ALPKRMTISNRRIL	NM_002977.3	NP_002968.1	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1758						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTCCAGTATGACTGCAATGTAC	0.401													False	0	False	2:167055876	0	GAATTCTTCTGTTGGAGATGGTCATCCTCTTCGGCAGAG	167055877	-	GAATTCTTCTGTTGGAGATGGTCATCCTCTTCGGCAGAG	167055876	7	5	89	1	0	1	1	0	0	0	0	0	14006	275	10	0	697	0	SCN9A	2	167055876	In_Frame_Ins	INS	-	TCGA-IB-7652-01A-11D-2154-08	207437	167055876	76143497	13	28537											
HECW2	57520	broad.mit.edu	37	chr2	197208385	197208385	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acacttagttacttacgttcCatgaaatagggcccaggctc	8	11	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:197208385C>G	ENST00000260983.3	-	3	578	c.396G>C	c.(394-396)atG>atC	p.M132I	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACTTACGTTCCATGAAATAGG	0.358													False	0	False	2:197208385	0	G	197208385	C	G	197208385	3	3	89	1	0	0	0	0	1	0	0	0	7090	594	21	5	4430	5	HECW2	2	197208385	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	30152509	197208385	45990988	14	28538											
ASB1	51665	broad.mit.edu	37	chr2	239342283	239342283	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggctccatgatgcagcttaCgtcggggacctccagaccct	11	14	0	2	rs140110697		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:239342283C>G	ENST00000264607.4	+	2	385	c.138C>G	c.(136-138)taC>taG	p.Y46*	ASB1_ENST00000409297.1_Nonsense_Mutation_p.Y46*|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	46					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		ATGCAGCTTACGTCGGGGACC	0.597													False	0	False	2:239342283	0	G	239342283	C	G	239342283	4	3	89	1	0	0	0	0	0	1	0	0	1017	547	19	5	144	5	ASB1	2	239342283	Nonsense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	42133898	239342283	3857090	15	28539											
FLNB	2317	broad.mit.edu	37	chr3	58107201	58107201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgggagcccctacacagtgGaggcctcgctgccaccagat	12	16	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:58107201G>A	ENST00000357272.4	+	20	3262	c.3097G>A	c.(3097-3099)Gag>Aag	p.E1033K	FLNB_ENST00000419752.2_Missense_Mutation_p.E864K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1033K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1033K|FLNB_ENST00000493452.1_Missense_Mutation_p.E864K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1033K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1033K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1033K			O75369	FLNB_HUMAN	filamin B, beta	1033					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTACACAGTGGAGGCCTCGCT	0.567													False	0	False	3:58107201	0	A	58107201	G	A	58107201	3	1	89	1	0	0	0	0	1	0	0	0	5974	1175	41	2	3175	2	FLNB	3	58107201	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		58107201	139915229	16	28540											
FLNB	2317	broad.mit.edu	37	chr3	58134060	58134060	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctggccgagacgagccctgTctcctgaagaggctgcccaa	12	14	2	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:58134060T>A	ENST00000357272.4	+	35	6021	c.5856T>A	c.(5854-5856)tgT>tgA	p.C1952*	FLNB_ENST00000419752.2_Nonsense_Mutation_p.C1772*|FLNB_ENST00000295956.4_Nonsense_Mutation_p.C1952*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.C1983*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.C1759*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.C1928*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.C1941*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.C1952*			O75369	FLNB_HUMAN	filamin B, beta	1952	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACGAGCCCTGTCTCCTGAAGA	0.602													False	0	False	3:58134060	0	A	58134060	T	A	58134060	4	1	89	1	0	0	0	0	0	1	0	0	5974	1673	58	5	6091	5	FLNB	3	58134060	Nonsense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	26859	58134060	139888370	17	28541											
KIAA1524	57650	broad.mit.edu	37	chr3	108270112	108270112	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgaagtttcaccaaggactCtttctcttccaaacgacctt	5	13	3	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:108270112C>G	ENST00000295746.8	-	21	2678	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E709Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	868						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCAAGGACTCTTTCTCTTCC	0.418													False	0	True	3:108270112	0	G	108270112	C	G	108270112	3	3	89	1	0	0	0	0	1	0	0	0	8289	922	32	5	119	5	KIAA1524	3	108270112	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	50136052	108270112	89752318	18	28542											
CD86	942	broad.mit.edu	37	chr3	121822373	121822417	+	In_Frame_Del	DEL	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	-													ttttaggtgctgctcctctgAagattcaagcttatttcaat					rs112508906		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	-	-	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:121822373_121822417delAAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	ENST00000330540.2	+	3	195_239	c.79_123delAAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	c.(79-123)aagattcaagcttatttcaatgagactgcagacctgccatgccaadel	p.KIQAYFNETADLPCQ27del	CD86_ENST00000483949.1_3'UTR|CD86_ENST00000393627.2_In_Frame_Del_p.KIQAYFNETADLPCQ21del|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	27				K -> E (in Ref. 8; AAA86473).	interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	p.E34D(1)|p.I28T(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TGCTCCTCTGAAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAATTTGCAAACT	0.408													False	1	False	3:121822373	0	-	121822417	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	-	121822373	7	5	89	1	0	1	0	1	0	0	0	0	3066	247	9	0	89	0	CD86	3	121822373	In_Frame_Del	DEL	AAGATTCAAGCTTATTTCAATGAGACTGCAGACCTGCCATGCCAA	TCGA-IB-7652-01A-11D-2154-08	13552261	121822373	76200057	19	28543											
DNAJC13	23317	broad.mit.edu	37	chr3	132209833	132209833	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaattatgaacctgaaaaGttttctgagatttttctagg	8	4	2	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:132209833G>T	ENST00000260818.6	+	32	3809	c.3561G>T	c.(3559-3561)aaG>aaT	p.K1187N		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1187							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACCTGAAAAGTTTTCTGAGA	0.323													False	0	True	3:132209833	0	T	132209833	G	T	132209833	3	4	89	1	0	0	0	0	1	0	0	0	4662	1020	36	3	3683	3	DNAJC13	3	132209833	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	10387460	132209833	65812597	20	28544											
A4GNT	51146	broad.mit.edu	37	chr3	137849964	137849964	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgccacgtctgtggctcagGagggcttccagcccctggtg	14	13	2	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:137849964G>C	ENST00000236709.3	-	2	336	c.135C>G	c.(133-135)ctC>ctG	p.L45L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	45					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TGTGGCTCAGGAGGGCTTCCA	0.537													False	0	False	3:137849964	0	C	137849964	G	C	137849964	2	2	89	1	0	0	0	0	0	0	0	1	7	1161	41	5		5	A4GNT	3	137849964	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	5640131	137849964	60172466	21	28545											
ATR	545	broad.mit.edu	37	chr3	142242967	142243004	+	Frame_Shift_Del	DEL	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	-													tttgcatcttggcaacctttCaaaagcactgtcaccaactg					rs56026468	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	-	-	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:142242967_142243004delCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	ENST00000350721.4	-	22	4104_4141	c.3983_4020delTAGAACCTATTATCTCACAGTTGGTGACAGTGCTTTTG	c.(3982-4020)gtagaacctattatctcacagttggtgacagtgcttttgfs	p.VEPIISQLVTVLL1328fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.VEPIISQLVTVLL1264fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1328					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGCAACCTTTCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTACTGTTTCACT	0.382								Other conserved DNA damage response genes					False	1	False	3:142242967	0	-	142243004	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	-	142242967	7	5	89	1	0	1	0	1	0	0	0	0	1208	825	29	0	4018	0	ATR	3	142242967	Frame_Shift_Del	DEL	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	TCGA-IB-7652-01A-11D-2154-08	4393003	142242967	55779463	22	28546											
MUC4	4585	broad.mit.edu	37	chr3	195517059	195517059	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatgagctcctctcatgaggCcgtcctgtggtctctgcacc	10	14	2	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:195517059C>A	ENST00000463781.3	-	2	1851	c.1392G>T	c.(1390-1392)cgG>cgT	p.R464R	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.R464R|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	469					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCTCATGAGGCCGTCCTGTGG	0.493													False	0	False	3:195517059	0	A	195517059	C	A	195517059	2	1	89	1	0	0	0	0	0	0	0	1	10045	726	26	3		3	MUC4	3	195517059	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	53274092	195517059	2505371	23	28547											
GRSF1	2926	broad.mit.edu	37	chr4	71691088	71691088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacatcagcttctccagTggccttcccactggagctgt	10	14	2	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:71691088T>C	ENST00000254799.6	-	8	1435	c.1318A>G	c.(1318-1320)Act>Gct	p.T440A	GRSF1_ENST00000545193.1_Missense_Mutation_p.T322A|GRSF1_ENST00000439371.1_Missense_Mutation_p.T278A|GRSF1_ENST00000502323.1_Missense_Mutation_p.T278A|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	440	RRM 3.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GCTTCTCCAGTGGCCTTCCCA	0.488													False	0	False	4:71691088	0	C	71691088	T	C	71691088	3	2	89	1	0	0	0	0	1	0	0	0	6856	1696	59	4	132	4	GRSF1	4	71691088	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08		71691088	119463188	24	28548											
PTPN13	0	broad.mit.edu	37	chr4	87684337	87684337	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtcaggatcatcaaacaccAaaacaggcatagtttaattt	6	8	3	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:87684337A>T	ENST00000436978.1	+	24	4491	c.4011A>T	c.(4009-4011)ccA>ccT	p.P1337P	PTPN13_ENST00000411767.2_Silent_p.P1337P|PTPN13_ENST00000316707.6_Silent_p.P1146P|PTPN13_ENST00000511467.1_Silent_p.P1337P|PTPN13_ENST00000427191.2_Silent_p.P1318P	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1337						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATCAAACACCAAAACAGGCAT	0.363													False	0	True	4:87684337	0	T	87684337	A	T	87684337	2	4	89	1	0	0	0	0	0	0	0	1	12859	117	5	5		5	PTPN13	4	87684337	Silent	SNP	A	TCGA-IB-7652-01A-11D-2154-08	15993249	87684337	103469939	25	28549											
FAT4	79633	broad.mit.edu	37	chr4	126371342	126371342	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgaaccaaaacttttttatCacagtcactgcaaaggataa	5	8	2	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:126371342C>G	ENST00000394329.3	+	9	9184	c.9171C>G	c.(9169-9171)atC>atG	p.I3057M	FAT4_ENST00000335110.5_Missense_Mutation_p.I1355M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3057	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTTTTTTATCACAGTCACTG	0.398													False	0	False	4:126371342	0	G	126371342	C	G	126371342	3	3	89	1	0	0	0	0	1	0	0	0	5732	816	29	5	9205	5	FAT4	4	126371342	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	38687005	126371342	64782934	26	28550											
PCDH10	57575	broad.mit.edu	37	chr4	134072871	134072871	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actctgagaacggctacttgTacgccctgcgctccttcgac	9	15	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:134072871T>G	ENST00000264360.5	+	1	2402	c.1576T>G	c.(1576-1578)Tac>Gac	p.Y526D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGCTACTTGTACGCCCTGCG	0.597													False	0	False	4:134072871	0	G	134072871	T	G	134072871	3	3	89	1	0	0	0	0	1	0	0	0	11575	1638	57	4	1578	4	PCDH10	4	134072871	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	7701529	134072871	57081405	27	28551											
TERT	0	broad.mit.edu	37	chr5	1253880	1253880	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtctgagggcagtgccGggttggctgcggcctccagg	18	10	1	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:1253880G>T	ENST00000310581.5	-	16	3419	c.3362C>A	c.(3361-3363)cCg>cAg	p.P1121Q	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.P1058Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1121	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGCAGTGCCGGGTTGGCTGC	0.662									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				False	0	True	5:1253880	0	T	1253880	G	T	1253880	3	4	89	1	0	0	0	0	1	0	0	0	15846	1116	39	3	40	3	TERT	5	1253880	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		1253880	179661380	28	28552											
PDZD2	23037	broad.mit.edu	37	chr5	32089602	32089631	+	In_Frame_Del	DEL	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	-													gacagaggttgcccaaccacCcctaaatctcctaagtgtag							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	-	-	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	ENST00000438447.1	+	20	6436_6465	c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	c.(6046-6078)acccctaaatctcctaagtgtagagcagagggc>acc	p.PKSPKCRAEG2017del	PDZD2_ENST00000282493.3_In_Frame_Del_p.PKSPKCRAEG2017del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2017					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.C2022Y(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCCAACCACCCCTAAATCTCCTAAGTGTAGAGCAGAGGGCAGGGCGCCC	0.635													False	1	False	5:32089602	0	-	32089631	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	-	32089602	7	5	89	1	0	1	0	1	0	0	0	0	11769	610	22	0	6122	0	PDZD2	5	32089602	In_Frame_Del	DEL	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	TCGA-IB-7652-01A-11D-2154-08	30835722	32089602	148825658	29	28553											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	89	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-IB-7652-01A-11D-2154-08	46520842	78610444	102304816	30	28554											
SLCO6A1	133482	broad.mit.edu	37	chr5	101748803	101748803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattgaagatgagcatctaCatttttcattgcaaggagcc	8	7	2	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:101748803C>T	ENST00000506729.1	-	9	1688	c.1517G>A	c.(1516-1518)tGt>tAt	p.C506Y	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C506Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C253Y			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	506	Kazal-like.					integral to membrane|plasma membrane	transporter activity	p.C506S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGAGCATCTACATTTTTCATT	0.333													False	0	False	5:101748803	0	T	101748803	C	T	101748803	3	4	89	1	0	0	0	0	1	0	0	0	14812	478	17	2	662	2	SLCO6A1	5	101748803	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	23138359	101748803	79166457	31	28555											
FSTL4	23105	broad.mit.edu	37	chr5	132535363	132535363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagaagtagccgcccagGtgggtgtgtgccatggcctg	16	9	0	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:132535363G>A	ENST00000265342.7	-	16	2202	c.1953C>T	c.(1951-1953)caC>caT	p.H651H	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	651						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCCGCCCAGGTGGGTGTGTG	0.622													False	0	True	5:132535363	0	A	132535363	G	A	132535363	2	1	89	1	0	0	0	0	0	0	0	1	6121	1252	44	2		2	FSTL4	5	132535363	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	30786560	132535363	48379897	32	28556											
EGR1	1958	broad.mit.edu	37	chr5	137803753	137803753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaccttttctcccaggAcaattgaaatttgctaaagg	7	10	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:137803753A>G	ENST00000239938.4	+	2	1887	c.1615A>G	c.(1615-1617)Aca>Gca	p.T539A		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	539					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TTCTCCCAGGACAATTGAAAT	0.502													False	0	False	5:137803753	0	G	137803753	A	G	137803753	3	3	89	1	0	0	0	0	1	0	0	0	5001	275	10	4	1621	4	EGR1	5	137803753	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08	5268390	137803753	43111507	33	28557											
PCDHA4	0	broad.mit.edu	37	chr5	140188280	140188280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgggtaggggagcgcgCgctgtcgagctacgtttcgg	20	10	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:140188280C>T	ENST00000530339.1	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGCGCGCGCTGTCGAGC	0.662													False	0	True	5:140188280	0	T	140188280	C	T	140188280	3	4	89	1	0	0	0	0	1	0	0	0	11594	768	27	1	1510	1	PCDHA4	5	140188280	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	2384527	140188280	40726980	34	28558											
PCDHA7	0	broad.mit.edu	37	chr5	140215334	140215334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacaacgccccggcgttcGcgcagcccgagtatacggtg	13	15	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:140215334G>A	ENST00000525929.1	+	1	1366	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A456T|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGGCGTTCGCGCAGCCCGA	0.677													False	0	False	5:140215334	0	A	140215334	G	A	140215334	3	1	89	1	0	0	0	0	1	0	0	0	11597	1087	38	1	1368	1	PCDHA7	5	140215334	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	27054	140215334	40699926	35	28559											
ARHGEF37	389337	broad.mit.edu	37	chr5	149001460	149001460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacctaccaggaggaggcCgcccggcacacataccaggc	13	15	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:149001460C>T	ENST00000333677.6	+	9	1333	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	390	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGGAGGAGGCCGCCCGGCACA	0.577													False	0	False	5:149001460	0	T	149001460	C	T	149001460	2	4	89	1	0	0	0	0	0	0	0	1	908	639	23	1		1	ARHGEF37	5	149001460	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	8786126	149001460	31913800	36	28560											
FAT2	2196	broad.mit.edu	37	chr5	150923942	150923942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcagaaaatgaccccagaGctgtatccgtggctctgact	9	12	2	4			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:150923942G>T	ENST00000261800.5	-	9	6758	c.6746C>A	c.(6745-6747)gCt>gAt	p.A2249D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2249	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCCCAGAGCTGTATCCGT	0.473													False	0	False	5:150923942	0	T	150923942	G	T	150923942	3	4	89	1	0	0	0	0	1	0	0	0	5730	971	34	3	6363	3	FAT2	5	150923942	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	1922482	150923942	29991318	37	28561											
SPARC	6678	broad.mit.edu	37	chr5	151049237	151049237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactcacatttgcaaggccCgatgtagtccaggtggagct	11	11	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:151049237C>T	ENST00000231061.4	-	6	752	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	147	Kazal-like.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TTGCAAGGCCCGATGTAGTCC	0.572													False	0	True	5:151049237	0	T	151049237	C	T	151049237	3	4	89	1	0	0	0	0	1	0	0	0	15077	652	23	1	492	1	SPARC	5	151049237	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	125295	151049237	29866023	38	28562											
ITK	3702	broad.mit.edu	37	chr5	156608099	156608099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgttaaccaaagccagCctggcatactttgaagatcg	9	9	0	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:156608099C>T	ENST00000422843.3	+	1	263	c.111C>T	c.(109-111)agC>agT	p.S37S		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	37	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAAAGCCAGCCTGGCATACT	0.398			T	SYK	peripheral T-cell lymphoma								False	0	True	5:156608099	0	T	156608099	C	T	156608099	2	4	89	1	0	0	0	0	0	0	0	1	7959	738	26	2		2	ITK	5	156608099	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	5558862	156608099	24307161	39	28563											
FLT4	2324	broad.mit.edu	37	chr5	180057054	180057054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggacacgagcatgccccGccggtcatcccacaccacct	9	19	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:180057054G>A	ENST00000261937.6	-	5	643	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	FLT4_ENST00000502649.1_Missense_Mutation_p.R189W|FLT4_ENST00000393347.3_Missense_Mutation_p.R189W|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	189	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCATGCCCCGCCGGTCATCC	0.647													False	0	True	5:180057054	0	A	180057054	G	A	180057054	3	1	89	1	0	0	0	0	1	0	0	0	5984	1086	38	1	3638	1	FLT4	5	180057054	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	23448955	180057054	858206	40	28564											
E2F3	1871	broad.mit.edu	37	chr6	20490617	20490617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgatctcttcgatgcttacGatttggaaaagctcccactg	9	11	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:20490617G>A	ENST00000346618.3	+	7	1420	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	E2F3_ENST00000535432.1_Missense_Mutation_p.D321N	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	452	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CGATGCTTACGATTTGGAAAA	0.468													False	0	False	6:20490617	0	A	20490617	G	A	20490617	3	1	89	1	0	0	0	0	1	0	0	0	4898	1058	37	1	1380	1	E2F3	6	20490617	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		20490617	150624450	41	28565											
OR12D2	26529	broad.mit.edu	37	chr6	29365221	29365221	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccacttcatggtagttattCttttctatgcacctgttctt	5	11	4	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:29365221C>A	ENST00000383555.2	+	1	806	c.745C>A	c.(745-747)Ctt>Att	p.L249I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L249V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGTAGTTATTCTTTTCTATGC	0.443													False	0	True	6:29365221	0	A	29365221	C	A	29365221	3	1	89	1	0	0	0	0	1	0	0	0	10999	913	32	3	747	3	OR12D2	6	29365221	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	8874604	29365221	141749846	42	28566											
PRSS35	167681	broad.mit.edu	37	chr6	84233558	84233558	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgacagcaggttcagcaTcttggacaaaaggttcttaa	9	10	3	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:84233558T>C	ENST00000536636.1	+	3	743	c.398T>C	c.(397-399)aTc>aCc	p.I133T	PRSS35_ENST00000369700.3_Missense_Mutation_p.I133T	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	133	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AGGTTCAGCATCTTGGACAAA	0.458													False	0	False	6:84233558	0	C	84233558	T	C	84233558	3	2	89	1	0	0	0	0	1	0	0	0	12700	1435	50	4	400	4	PRSS35	6	84233558	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	54868337	84233558	86881509	43	28567											
FOXO3	2309	broad.mit.edu	37	chr6	108985160	108985160	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgactgatatggcaggcaCcatgaatctgaatgatgggc	13	8	1	5			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:108985160C>G	ENST00000406360.1	+	2	1467	c.1124C>G	c.(1123-1125)aCc>aGc	p.T375S	FOXO3_ENST00000343882.6_Missense_Mutation_p.T375S|FOXO3_ENST00000540898.1_Missense_Mutation_p.T155S	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	375					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		ATGGCAGGCACCATGAATCTG	0.582													False	0	True	6:108985160	0	G	108985160	C	G	108985160	3	3	89	1	0	0	0	0	1	0	0	0	6066	507	18	5	1130	5	FOXO3	6	108985160	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	24751602	108985160	62129907	44	28568											
GPR6	0	broad.mit.edu	37	chr6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-													tggtagtggcggccgaaggaGcggcggcggcggccacagca							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.					integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712													False	1	True	6:110300376	0	-	110300435	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	110300376	7	5	89	1	0	1	0	1	0	0	0	0	6747	971	34	0	63	0	GPR6	6	110300376	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	TCGA-IB-7652-01A-11D-2154-08	1315216	110300376	60814691	45	28569											
PARK2	5071	broad.mit.edu	37	chr6	162864492	162864492	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggaaaccatggctggagttGaacctgacaaacactgacca	11	10	0	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:162864492G>T	ENST00000366898.1	-	2	123	c.21C>A	c.(19-21)ttC>ttA	p.F7L	PARK2_ENST00000366896.1_Missense_Mutation_p.F7L|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366892.1_Missense_Mutation_p.F7L|PARK2_ENST00000366897.1_Missense_Mutation_p.F7L|PARK2_ENST00000338468.3_5'UTR	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	7	Ubiquitin-like.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGCTGGAGTTGAACCTGACAA	0.498													False	0	False	6:162864492	0	T	162864492	G	T	162864492	3	4	89	1	0	0	0	0	1	0	0	0	11517	1281	45	3	1420	3	PARK2	6	162864492	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	52564116	162864492	8250575	46	28570											
FLNC	2318	broad.mit.edu	37	chr7	128478769	128478769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgttccgctgcacatacagAcctgccatggaggggccaca	11	14	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:128478769A>T	ENST00000325888.8	+	8	1584	c.1323A>T	c.(1321-1323)agA>agT	p.R441S	FLNC_ENST00000346177.6_Missense_Mutation_p.R441S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	441					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCACATACAGACCTGCCATGG	0.637													False	0	False	7:128478769	0	T	128478769	A	T	128478769	3	4	89	1	0	0	0	0	1	0	0	0	5975	272	10	5	1353	5	FLNC	7	128478769	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08		128478769	30659894	47	28571											
NOBOX	135935	broad.mit.edu	37	chr7	144097345	144097345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctgggcaatctctcggCgtttatcactgtcaggatag	11	11	4	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:144097345C>T	ENST00000467773.1	-	5	904	c.905G>A	c.(904-906)cGc>cAc	p.R302H	NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	302					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AATCTCTCGGCGTTTATCACT	0.557													False	0	False	7:144097345	0	T	144097345	C	T	144097345	3	4	89	1	0	0	0	0	1	0	0	0	10580	768	27	1	1098	1	NOBOX	7	144097345	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	15618576	144097345	15041318	48	28572											
KCNH2	3757	broad.mit.edu	37	chr7	150645966	150645967	+	Frame_Shift_Ins	INS	-	-	CCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGC													tcgcaggttgaaggtgatctINSccaggctggaccagaagtgg							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:150645966_150645967insCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGC	ENST00000262186.5	-	10	2970_2971	c.2569_2570insGCTGGACATGTACCCTGAGTTCTCCGACCACTTCTGGTCCAGCCTGG	c.(2569-2571)gagfs	p.E857fs	KCNH2_ENST00000330883.4_Frame_Shift_Ins_p.E517fs|KCNH2_ENST00000392968.2_Frame_Shift_Ins_p.E761fs	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	857					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GAAGGTGATCTCCAGGCTGGAC	0.579													False	0	False	7:150645966	0	CCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGC	150645967	-	CCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGC	150645966	7	5	89	1	0	1	1	0	0	0	0	0	8082	1551	54	0	933	0	KCNH2	7	150645966	Frame_Shift_Ins	INS	-	TCGA-IB-7652-01A-11D-2154-08	6548621	150645966	8492697	49	28573											
DLGAP2	9228	broad.mit.edu	37	chr8	1497384	1497384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccaaaagcaacgccaaCggcaccaaggcggacggccg	11	16	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:1497384C>T	ENST00000421627.2	+	2	659	c.525C>T	c.(523-525)aaC>aaT	p.N175N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	254					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCAACGCCAACGGCACCAAGG	0.672													False	0	False	8:1497384	0	T	1497384	C	T	1497384	2	4	89	1	0	0	0	0	0	0	0	1	4590	535	19	1		1	DLGAP2	8	1497384	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08		1497384	144866638	50	28574											
PXDNL	137902	broad.mit.edu	37	chr8	52384855	52384855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcggctcaaaagtaattCgggggctctctgcaacaaaa	10	11	2	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:52384855C>T	ENST00000356297.4	-	8	804	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	235	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAAAGTAATTCGGGGGCTCTC	0.413													False	0	True	8:52384855	0	T	52384855	C	T	52384855	3	4	89	1	0	0	0	0	1	0	0	0	12927	884	31	1	3751	1	PXDNL	8	52384855	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	50887471	52384855	93979167	51	28575											
OR13F1	138805	broad.mit.edu	37	chr9	107267140	107267140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctggtgcagttaatcatGctggtgatcagtgtacttct	10	9	3	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:107267140G>A	ENST00000334726.2	+	1	686	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTTAATCATGCTGGTGATCA	0.433													False	0	False	9:107267140	0	A	107267140	G	A	107267140	3	1	89	1	0	0	0	0	1	0	0	0	11009	1319	46	2	599	2	OR13F1	9	107267140	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		107267140	33946291	52	28576											
SVEP1	79987	broad.mit.edu	37	chr9	113169147	113169147	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgacagtggaatgttacttcCttcatgaagccatagtccag	9	9	1	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:113169147C>G	ENST00000401783.2	-	38	9069	c.8733G>C	c.(8731-8733)aaG>aaC	p.K2911N	SVEP1_ENST00000297826.5_Missense_Mutation_p.K837N|SVEP1_ENST00000374469.1_Missense_Mutation_p.K2888N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2911	Sushi 25.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATGTTACTTCCTTCATGAAGC	0.552													False	0	True	9:113169147	0	G	113169147	C	G	113169147	3	3	89	1	0	0	0	0	1	0	0	0	15502	680	24	5	2026	5	SVEP1	9	113169147	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	5902007	113169147	28044284	53	28577											
DAB2IP	153090	broad.mit.edu	37	chr9	124535711	124535711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccccagtacccgcctgagGcagcagtcctcttcctccaa	9	18	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:124535711G>T	ENST00000408936.3	+	12	3086	c.2904G>T	c.(2902-2904)agG>agT	p.R968S	DAB2IP_ENST00000259371.2_Missense_Mutation_p.R940S|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R844S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	968					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCGCCTGAGGCAGCAGTCCT	0.652													False	0	False	9:124535711	0	T	124535711	G	T	124535711	3	4	89	1	0	0	0	0	1	0	0	0	4244	1194	42	3	2866	3	DAB2IP	9	124535711	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	11366564	124535711	16677720	54	28578											
PTGS1	5742	broad.mit.edu	37	chr9	125140773	125140773	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctctttcacccacttcctGctcactcacgggcgctggtt	7	18	4	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:125140773G>T	ENST00000362012.2	+	4	278	c.273G>T	c.(271-273)ctG>ctT	p.L91L	PTGS1_ENST00000223423.4_Silent_p.L91L|PTGS1_ENST00000540753.1_Silent_p.L66L|PTGS1_ENST00000373698.5_5'UTR	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	91					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CCCACTTCCTGCTCACTCACG	0.622													False	0	True	9:125140773	0	T	125140773	G	T	125140773	2	4	89	1	0	0	0	0	0	0	0	1	12832	1306	46	3		3	PTGS1	9	125140773	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	605062	125140773	16072658	55	28579											
OR1K1	0	broad.mit.edu	37	chr9	125563309	125563309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgatgtacagggggcactccGagcccttctcattgggcgaa	13	12	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:125563309G>A	ENST00000277309.2	+	1	940	c.908G>A	c.(907-909)cGa>cAa	p.R303Q		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GGGGCACTCCGAGCCCTTCTC	0.582													False	0	False	9:125563309	0	A	125563309	G	A	125563309	3	1	89	1	0	0	0	0	1	0	0	0	11030	1058	37	1	910	1	OR1K1	9	125563309	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	422536	125563309	15650122	56	28580											
PRDM12	59335	broad.mit.edu	37	chr9	133540159	133540159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagcttcctgtacggccGctggcgcaacgtgctcgggg	15	14	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:133540159G>A	ENST00000253008.2	+	1	179	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CTGTACGGCCGCTGGCGCAAC	0.677													False	0	False	9:133540159	0	A	133540159	G	A	133540159	3	1	89	1	0	0	0	0	1	0	0	0	12529	1087	38	1	121	1	PRDM12	9	133540159	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	7976850	133540159	7673272	57	28581											
DDX31	64794	broad.mit.edu	37	chr9	135487492	135487492	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accttttcacgtgtgctttcCtcttctttctagtcaaggca	6	12	5	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:135487492C>G	ENST00000372159.3	-	19	2442	c.2291G>C	c.(2290-2292)aGg>aCg	p.R764T	DDX31_ENST00000372153.1_Missense_Mutation_p.R691T|DDX31_ENST00000438527.3_Missense_Mutation_p.R635T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	764						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GTGTGCTTTCCTCTTCTTTCT	0.532													False	0	False	9:135487492	0	G	135487492	C	G	135487492	3	3	89	1	0	0	0	0	1	0	0	0	4381	681	24	5	272	5	DDX31	9	135487492	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	1947333	135487492	5725939	58	28582											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136402618	136402618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtggacggcgtgttcccGcagttgcgggggtggggtga	20	8	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:136402618G>A	ENST00000393061.3	+	3	941	c.509G>A	c.(508-510)cGc>cAc	p.R170H	ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.R61H|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R61H			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	61					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCGTGTTCCCGCAGTTGCGGG	0.672													False	0	True	9:136402618	0	A	136402618	G	A	136402618	3	1	89	1	0	0	0	0	1	0	0	0	275	1087	38	1	188	1	ADAMTSL2	9	136402618	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	915126	136402618	4810813	59	28583											
KCNT1	57582	broad.mit.edu	37	chr9	138675926	138675926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgcctgccgttcgccgcCggccgcgtcttcagcatcag	11	18	3	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:138675926C>T	ENST00000298480.5	+	25	2972	c.2898C>T	c.(2896-2898)gcC>gcT	p.A966A	KCNT1_ENST00000491806.2_Silent_p.A933A|KCNT1_ENST00000487664.1_Silent_p.A921A|KCNT1_ENST00000486577.2_Silent_p.A925A|KCNT1_ENST00000371757.2_Silent_p.A966A|KCNT1_ENST00000488444.2_Silent_p.A947A|KCNT1_ENST00000490355.2_Silent_p.A945A|KCNT1_ENST00000263604.3_Silent_p.A947A			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	966						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGTTCGCCGCCGGCCGCGTCT	0.667													False	0	True	9:138675926	0	T	138675926	C	T	138675926	2	4	89	1	0	0	0	0	0	0	0	1	8141	639	23	1		1	KCNT1	9	138675926	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	2273308	138675926	2537505	60	28584											
KIAA1217	56243	broad.mit.edu	37	chr10	24762714	24762714	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catttgcctacactgggctcCaaaacaccccctgcctctcc	5	19	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:24762714C>A	ENST00000376451.2	+	2	818	c.558C>A	c.(556-558)tcC>tcA	p.S186S	KIAA1217_ENST00000396445.1_Silent_p.S186S|KIAA1217_ENST00000307544.6_Silent_p.S186S|KIAA1217_ENST00000376454.3_Silent_p.S468S|KIAA1217_ENST00000376462.1_Silent_p.S388S|KIAA1217_ENST00000430453.2_Silent_p.S389S|KIAA1217_ENST00000396446.1_Silent_p.S186S|KIAA1217_ENST00000458595.1_Silent_p.S468S|KIAA1217_ENST00000376452.3_Silent_p.S468S			Q5T5P2	SKT_HUMAN	KIAA1217	468					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACTGGGCTCCAAAACACCCC	0.507													False	0	True	10:24762714	0	A	24762714	C	A	24762714	2	1	89	1	0	0	0	0	0	0	0	1	8266	581	21	3		3	KIAA1217	10	24762714	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08		24762714	110772033	61	28585											
ZEB1	6935	broad.mit.edu	37	chr10	31810814	31810814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctactcaactacggtcagcCctgcagtccaagaaccaccc	6	18	2	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:31810814C>T	ENST00000446923.2	+	7	2894	c.2503C>T	c.(2503-2505)Cct>Tct	p.P835S	ZEB1_ENST00000320985.10_Missense_Mutation_p.P851S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P852S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P784S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P831S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	851					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TACGGTCAGCCCTGCAGTCCA	0.463													False	0	True	10:31810814	0	T	31810814	C	T	31810814	3	4	89	1	0	0	0	0	1	0	0	0	17706	623	22	2	2591	2	ZEB1	10	31810814	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	7048100	31810814	103723933	62	28586											
MYOZ1	58529	broad.mit.edu	37	chr10	75399731	75399731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttccatgatcagcttgctGgatttcctcttcttattagg	8	9	3	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:75399731G>A	ENST00000359322.4	-	2	409	c.45C>T	c.(43-45)tcC>tcT	p.S15S		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	15					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TCAGCTTGCTGGATTTCCTCT	0.517													False	0	False	10:75399731	0	A	75399731	G	A	75399731	2	1	89	1	0	0	0	0	0	0	0	1	10162	1335	47	2		2	MYOZ1	10	75399731	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	43588917	75399731	60135016	63	28587											
OR10A6	390093	broad.mit.edu	37	chr11	7949776	7949776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggcccatgaaaatataAttaatttcataaaaactcct	3	8	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:7949776A>G	ENST00000309838.2	-	1	433	c.434T>C	c.(433-435)aTt>aCt	p.I145T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAAAATATAATTAATTTCAT	0.338													False	0	True	11:7949776	0	G	7949776	A	G	7949776	3	3	89	1	0	0	0	0	1	0	0	0	10962	101	4	4	513	4	OR10A6	11	7949776	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08		7949776	127056740	64	28588											
OR9G1	390174	broad.mit.edu	37	chr11	56468064	56468064	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcactggaaatctgtcgttTctggatctctggtattcttc	8	9	5	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:56468064T>C	ENST00000312153.1	+	1	201	c.201T>C	c.(199-201)ttT>ttC	p.F67F		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ATCTGTCGTTTCTGGATCTCT	0.463													False	0	True	11:56468064	0	C	56468064	T	C	56468064	2	2	89	1	0	0	0	0	0	0	0	1	11318	1780	62	4		4	OR9G1	11	56468064	Silent	SNP	T	TCGA-IB-7652-01A-11D-2154-08	48518288	56468064	78538452	65	28589											
SLC22A11	55867	broad.mit.edu	37	chr11	64329841	64329841	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggcggcctggcctttgcccTgcgggactggaggactctcc	16	14	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:64329841T>A	ENST00000301891.4	+	4	1129	c.755T>A	c.(754-756)cTg>cAg	p.L252Q	SLC22A11_ENST00000377581.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Missense_Mutation_p.L252Q	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	252					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GCCTTTGCCCTGCGGGACTGG	0.627													False	0	True	11:64329841	0	A	64329841	T	A	64329841	3	1	89	1	0	0	0	0	1	0	0	0	14523	1580	55	5	769	5	SLC22A11	11	64329841	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	7861777	64329841	70676675	66	28590											
PC	5091	broad.mit.edu	37	chr11	66638642	66638642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagggacgtgatgggggCatctgtgccagggacaacgg	18	8	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:66638642C>T	ENST00000393960.1	-	7	795	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T|PC_ENST00000393958.2_Missense_Mutation_p.A172T|PC_ENST00000355677.3_Missense_Mutation_p.A172T	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	172	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGATGGGGGCATCTGTGCCA	0.622													False	0	True	11:66638642	0	T	66638642	C	T	66638642	3	4	89	1	0	0	0	0	1	0	0	0	11565	710	25	2	3090	2	PC	11	66638642	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	2308801	66638642	68367874	67	28591											
CCDC81	60494	broad.mit.edu	37	chr11	86131064	86131064	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgctgcgatgaagaagCagcgagacctggaggacaag	17	7	0	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:86131064C>T	ENST00000278487.3	+	13	2070	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	CCDC81_ENST00000528728.1_Nonsense_Mutation_p.Q331*|CCDC81_ENST00000445632.2_Nonsense_Mutation_p.Q596*|CCDC81_ENST00000354755.1_Nonsense_Mutation_p.Q506*			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	596										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GATGAAGAAGCAGCGAGACCT	0.517													False	0	False	11:86131064	0	T	86131064	C	T	86131064	4	4	89	1	0	0	0	0	0	1	0	0	2876	711	25	2	1840	2	CCDC81	11	86131064	Nonsense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	19492422	86131064	48875452	68	28592											
GPR83	10888	broad.mit.edu	37	chr11	94134167	94134167	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgccaaagagtgagaagaCaatgatgaaggagtaagcca	13	5	0	5			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:94134167C>A	ENST00000243673.2	-	1	418	c.247G>T	c.(247-249)Gtc>Ttc	p.V83F	GPR83_ENST00000539203.2_Missense_Mutation_p.V83F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	83						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGTGAGAAGACAATGATGAAG	0.557													False	0	False	11:94134167	0	A	94134167	C	A	94134167	3	1	89	1	0	0	0	0	1	0	0	0	6759	478	17	3	1040	3	GPR83	11	94134167	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	8003103	94134167	40872349	69	28593											
NPAT	4863	broad.mit.edu	37	chr11	108032080	108032080	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgtatatcctgtaacatttCtgtggtaatcaaagaactgg	8	7	2	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:108032080C>T	ENST00000278612.8	-	17	3838	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1245	Required for acceleration of G1 phase.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGTAACATTTCTGTGGTAATC	0.433													False	0	True	11:108032080	0	T	108032080	C	T	108032080	3	4	89	1	0	0	0	0	1	0	0	0	10634	922	32	2	558	2	NPAT	11	108032080	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	13897913	108032080	26974436	70	28594											
ALG9	79796	broad.mit.edu	37	chr11	111749420	111749420	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgggtgcagtccacaccGaaacgtacatcgatacctgg	11	12	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:111749420G>A	ENST00000524880.1	-	2	481	c.189C>T	c.(187-189)ttC>ttT	p.F63F	FDXACB1_ENST00000542429.1_Intron|FDXACB1_ENST00000260257.4_Silent_p.F63F			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	0					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AGTCCACACCGAAACGTACAT	0.458											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:111749420	0	A	111749420	G	A	111749420	2	1	89	1	0	0	0	0	0	0	0	1	524	1049	37	1		1	ALG9	11	111749420	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	3717340	111749420	23257096	71	28595											
ARCN1	372	broad.mit.edu	37	chr11	118451977	118452014	+	Frame_Shift_Del	DEL	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	-													gcaggtgctgttggcagcagCggtctgcacaaaagcaggaa					rs142869705	by1000genomes	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	-	-	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:118451977_118452014delCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	ENST00000359415.4	+	3	308_345	c.143_180delCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	c.(142-180)gcggtctgcacaaaagcaggaaaggctattgtttctcgafs	p.AVCTKAGKAIVSR48fs	ARCN1_ENST00000392859.3_Intron|ARCN1_ENST00000264028.4_Frame_Shift_Del_p.AVCTKAGKAIVSR7fs|ARCN1_ENST00000534182.2_Frame_Shift_Del_p.AVCTKAGKAIVSR7fs			P48444	COPD_HUMAN	archain 1	7					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		p.A15T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTGGCAGCAGCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGACAGTTTGTGG	0.42													False	1	True	11:118451977	0	-	118452014	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	-	118451977	7	5	89	1	0	1	0	1	0	0	0	0	844	768	27	0	26	0	ARCN1	11	118451977	Frame_Shift_Del	DEL	CGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGA	TCGA-IB-7652-01A-11D-2154-08	6702557	118451977	16554539	72	28596											
DCP1B	196513	broad.mit.edu	37	chr12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG													gctgctgctgctgctgctgcINStggtggagagtctgcggagg							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:2062350_2062351insTGG	ENST00000540622.1	-	4	435_436	c.377_378insCCA	c.(376-378)cag>caCCAg	p.125_126insH	DCP1B_ENST00000280665.6_In_Frame_Ins_p.251_252insH|DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH|DCP1B_ENST00000541700.1_5'UTR			Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.55													False	2	True	12:2062350	0	TGG	2062351	-	TGG	2062350	7	5	89	1	0	1	1	0	0	0	0	0	4324	796	28	0	1109	0	DCP1B	12	2062350	In_Frame_Ins	INS	-	TCGA-IB-7652-01A-11D-2154-08		2062350	131789545	73	28597											
NTF3	4908	broad.mit.edu	37	chr12	5603961	5603961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaatatttttatgaaacgcGatgtaaggaagccaggccgg	11	7	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:5603961G>A	ENST00000423158.3	+	2	832	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	NTF3_ENST00000331010.6_Missense_Mutation_p.R194Q|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	194					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.R194P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TATGAAACGCGATGTAAGGAA	0.507													False	0	False	12:5603961	0	A	5603961	G	A	5603961	3	1	89	1	0	0	0	0	1	0	0	0	10764	1058	37	1	626	1	NTF3	12	5603961	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	3541611	5603961	128247934	74	28598											
TAS2R42	353164	broad.mit.edu	37	chr12	11338898	11338898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctagagcccaaggaactgaGcttcaaatttctagtatgtc	8	9	3	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:11338898G>A	ENST00000334266.1	-	1	645	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	216					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AAGGAACTGAGCTTCAAATTT	0.418													False	0	False	12:11338898	0	A	11338898	G	A	11338898	3	1	89	1	0	0	0	0	1	0	0	0	15662	971	34	2	302	2	TAS2R42	12	11338898	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	5734937	11338898	122512997	75	28599											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	89	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	14059387	25398285	108453610	76	28600											
GDF11	0	broad.mit.edu	37	chr12	56142711	56142711	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcatcgagatcaacgcctttGatcccagtggcacagacctg	10	13	1	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:56142711G>C	ENST00000257868.5	+	2	824	c.787G>C	c.(787-789)Gat>Cat	p.D263H		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	263					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAACGCCTTTGATCCCAGTGG	0.622													False	0	True	12:56142711	0	C	56142711	G	C	56142711	3	2	89	1	0	0	0	0	1	0	0	0	6357	1290	45	5	793	5	GDF11	12	56142711	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	30744426	56142711	77709184	77	28601											
SKA3	221150	broad.mit.edu	37	chr13	21734128	21734133	+	Splice_Site	DEL	TAAAAG	TAAAAG	-													gagttggtatattcggcatcTaaaagacacataaaatggtc							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TAAAAG	TAAAAG	-	-	TAAAAG	TAAAAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:21734128_21734133delTAAAAG	ENST00000400018.3	-	6	899		c.e6-2		SKA3_ENST00000314759.5_Splice_Site	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATTCGGCATCTAAAAGACACATAAAA	0.32													False	1	True	13:21734128	0	-	21734133	TAAAAG	-	21734128	8	5	89	1	0	1	0	1	0	0	1	0	14435	1536	53	0	473	0	SKA3	13	21734128	Splice_Site	DEL	TAAAAG	TCGA-IB-7652-01A-11D-2154-08		21734128	93435750	78	28602											
PDS5B	23047	broad.mit.edu	37	chr13	33253063	33253063	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgatttagcaaaagacttaAcaggtactatatatatgtaa	6	5	0	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:33253063A>T	ENST00000315596.10	+	10	1240	c.1054A>T	c.(1054-1056)Aca>Tca	p.T352S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	352					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAGACTTAACAGGTACTAT	0.368													False	0	False	13:33253063	0	T	33253063	A	T	33253063	3	4	89	1	0	0	0	0	1	0	0	0	11760	43	2	5	1088	5	PDS5B	13	33253063	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08	11518935	33253063	81916815	79	28603											
PDS5B	23047	broad.mit.edu	37	chr13	33332728	33332728	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatgtcaaagagtactacAtacagtttggaatctcctaa	6	8	3	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:33332728A>G	ENST00000315596.10	+	28	3432	c.3246A>G	c.(3244-3246)acA>acG	p.T1082T		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1082					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGAGTACTACATACAGTTTGG	0.358													False	0	True	13:33332728	0	G	33332728	A	G	33332728	2	3	89	1	0	0	0	0	0	0	0	1	11760	204	8	4		4	PDS5B	13	33332728	Silent	SNP	A	TCGA-IB-7652-01A-11D-2154-08	79665	33332728	81837150	80	28604											
ERO1L	30001	broad.mit.edu	37	chr14	53110325	53110325	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaagttcctgaagttttctAattctttcacacttgtagaa	5	8	3	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:53110325A>T	ENST00000395686.3	-	16	1593	c.1370T>A	c.(1369-1371)tTa>tAa	p.L457*		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	457					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GAAGTTTTCTAATTCTTTCAC	0.303													False	0	False	14:53110325	0	T	53110325	A	T	53110325	4	4	89	1	0	0	0	0	0	1	0	0	5271	372	13	5	40	5	ERO1L	14	53110325	Nonsense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08		53110325	54239215	81	28605											
DAAM1	23002	broad.mit.edu	37	chr14	59789651	59789651	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggatggcctatcatgtaTcctcaactttctaaagacca	6	11	3	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:59789651T>G	ENST00000395125.1	+	5	505	c.482T>G	c.(481-483)aTc>aGc	p.I161S	DAAM1_ENST00000351081.1_Missense_Mutation_p.I161S|DAAM1_ENST00000360909.3_Missense_Mutation_p.I161S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	161	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTATCATGTATCCTCAACTTT	0.418													False	0	False	14:59789651	0	G	59789651	T	G	59789651	3	3	89	1	0	0	0	0	1	0	0	0	4240	1435	50	4	500	4	DAAM1	14	59789651	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	6679326	59789651	47559889	82	28606											
AK7	122481	broad.mit.edu	37	chr14	96864443	96864443	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtagttggggcttcgcTtgaagaaattacagaggaag	14	5	0	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:96864443T>G	ENST00000267584.4	+	2	181	c.137T>G	c.(136-138)cTt>cGt	p.L46R	AK7_ENST00000555570.1_Missense_Mutation_p.L46R	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	46					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGGGCTTCGCTTGAAGAAATT	0.418													False	0	False	14:96864443	0	G	96864443	T	G	96864443	3	3	89	1	0	0	0	0	1	0	0	0	444	1609	56	4	143	4	AK7	14	96864443	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	37074792	96864443	10485097	83	28607											
HOMER2	0	broad.mit.edu	37	chr15	83527855	83527855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggaccggcgtgagaggcCttttcatcgtccgtcccgtt	13	13	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:83527855C>A	ENST00000304231.8	-	5	645	c.453G>T	c.(451-453)aaG>aaT	p.K151N	HOMER2_ENST00000450735.2_Missense_Mutation_p.K140N|HOMER2_ENST00000426485.1_Missense_Mutation_p.K151N|HOMER2_ENST00000399166.2_Missense_Mutation_p.K140N	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	151					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						CGTGAGAGGCCTTTTCATCGT	0.498													False	0	True	15:83527855	0	A	83527855	C	A	83527855	3	1	89	1	0	0	0	0	1	0	0	0	7326	680	24	3	631	3	HOMER2	15	83527855	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08		83527855	19003537	84	28608											
AGBL1	123624	broad.mit.edu	37	chr15	86838550	86838550	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacttccggcaagatgttcTctgccagacgctgggaggga	13	11	1	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:86838550T>C	ENST00000441037.2	+	16	2242	c.2147T>C	c.(2146-2148)cTc>cCc	p.L716P	AGBL1_ENST00000389298.3_Missense_Mutation_p.L447P|AGBL1_ENST00000421325.2_Missense_Mutation_p.L716P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	716					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAAGATGTTCTCTGCCAGACG	0.483													False	0	False	15:86838550	0	C	86838550	T	C	86838550	3	2	89	1	0	0	0	0	1	0	0	0	375	1551	54	4	2205	4	AGBL1	15	86838550	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	3310695	86838550	15692842	85	28609											
LRRK1	79705	broad.mit.edu	37	chr15	101529485	101529485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgcaatattcctgcttcGgcatggggcctatttctgtt	9	10	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:101529485G>A	ENST00000284395.5	+	7	1035	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	LRRK1_ENST00000388948.3_Missense_Mutation_p.R215Q|LRRK1_ENST00000532029.2_Missense_Mutation_p.R215Q			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	215					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCTGCTTCGGCATGGGGCC	0.483													False	0	False	15:101529485	0	A	101529485	G	A	101529485	3	1	89	1	0	0	0	0	1	0	0	0	9094	1116	39	1	662	1	LRRK1	15	101529485	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	14690935	101529485	1001907	86	28610											
TBL3	10607	broad.mit.edu	37	chr16	2028197	2028202	+	In_Frame_Del	DEL	CTCCGA	CTCCGA	-													agaagctggaagccaccatgCtccgactgcggcgcgaccag							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	CTCCGA	CTCCGA	-	-	CTCCGA	CTCCGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:2028197_2028202delCTCCGA	ENST00000568546.1	+	20	2238_2243	c.2110_2115delCTCCGA	c.(2110-2115)ctccgadel	p.LR706del		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	706					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AGCCACCATGCTCCGACTGCGGCGCG	0.655													False	1	False	16:2028197	0	-	2028202	CTCCGA	-	2028197	7	5	89	1	0	1	0	1	0	0	0	0	15725	797	28	0	2188	0	TBL3	16	2028197	In_Frame_Del	DEL	CTCCGA	TCGA-IB-7652-01A-11D-2154-08		2028197	88326556	87	28611											
E4F1	1877	broad.mit.edu	37	chr16	2284179	2284196	+	In_Frame_Del	DEL	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	-													tgtgtggctgcagggccgagGccgttcgcctgcgcgcagtg					rs137969975		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	-	-	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:2284179_2284196delGCCGTTCGCCTGCGCGCA	ENST00000301727.4	+	10	1431_1448	c.1383_1400delGCCGTTCGCCTGCGCGCA	c.(1381-1401)aggccgttcgcctgcgcgcag>agg	p.PFACAQ462del	E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_In_Frame_Del_p.PFACAQ462del	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	462	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CAGGGCCGAGGCCGTTCGCCTGCGCGCAGTGTGGCAAG	0.693													False	1	False	16:2284179	0	-	2284196	GCCGTTCGCCTGCGCGCA	-	2284179	7	5	89	1	0	1	0	1	0	0	0	0	4904	1194	42	0	1421	0	E4F1	16	2284179	In_Frame_Del	DEL	GCCGTTCGCCTGCGCGCA	TCGA-IB-7652-01A-11D-2154-08	255982	2284179	88070574	88	28612											
SNX29	92017	broad.mit.edu	37	chr16	12450122	12450123	+	In_Frame_Ins	INS	-	-	TTAGCAGGGTGTGGTGGC													gatgaggcaggagctcatcgINSatctccggggaccggtgagt							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:12450122_12450123insTTAGCAGGGTGTGGTGGC	ENST00000566228.1	+	16	1954_1955	c.1885_1886insTTAGCAGGGTGTGGTGGC	c.(1885-1887)gat>gTTAGCAGGGTGTGGTGGCat	p.629_629D>VSRVWWH	SNX29_ENST00000323433.4_In_Frame_Ins_p.244_244D>VSRVWWH|SNX29_ENST00000306030.3_In_Frame_Ins_p.244_244D>VSRVWWH	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	244					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GGAGCTCATCGATCTCCGGGGA	0.589													False	0	False	16:12450122	0	TTAGCAGGGTGTGGTGGC	12450123	-	TTAGCAGGGTGTGGTGGC	12450122	7	5	89	1	0	1	1	0	0	0	0	0	14978	1058	37	0	760	0	SNX29	16	12450122	In_Frame_Ins	INS	-	TCGA-IB-7652-01A-11D-2154-08	10165943	12450122	77904631	89	28613											
CACNG3	10368	broad.mit.edu	37	chr16	24372859	24372859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaaaacatcagcagttacGagccaaatcccactcggagt	8	11	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:24372859G>A	ENST00000005284.3	+	4	1825	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	208					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAGCAGTTACGAGCCAAATCC	0.488													False	0	False	16:24372859	0	A	24372859	G	A	24372859	3	1	89	1	0	0	0	0	1	0	0	0	2578	1058	37	1	637	1	CACNG3	16	24372859	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	11922737	24372859	65981894	90	28614											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			False	0	False	17:7578406	0	T	7578406	C	T	7578406	3	4	89	1	0	0	0	0	1	0	0	0	16464	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08		7578406	73616804	91	28615											
DNAH17	8632	broad.mit.edu	37	chr17	76459132	76459132	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcacgtaggacatgaAgaagctgatggaggccttga	16	6	0	4			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:76459132A>G	ENST00000389840.5	-	57	9050	c.8926T>C	c.(8926-8928)Ttc>Ctc	p.F2976L	DNAH17_ENST00000585328.1_Missense_Mutation_p.F2985L|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGGACATGAAGAAGCTGATG	0.542													False	0	False	17:76459132	0	G	76459132	A	G	76459132	3	3	89	1	0	0	0	0	1	0	0	0	4631	72	3	4	4520	4	DNAH17	17	76459132	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08	68880726	76459132	4736078	92	28616											
DNAH17	8632	broad.mit.edu	37	chr17	76571032	76571032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctgtgaacagggccacGttctcctcggcgcctatcag	10	14	3	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:76571032G>A	ENST00000389840.5	-	2	232	c.108C>T	c.(106-108)aaC>aaT	p.N36N	DNAH17_ENST00000585328.1_Silent_p.N36N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGGGCCACGTTCTCCTCGG	0.587													False	0	False	17:76571032	0	A	76571032	G	A	76571032	2	1	89	1	0	0	0	0	0	0	0	1	4631	1136	40	1		1	DNAH17	17	76571032	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	111900	76571032	4624178	93	28617											
ZNF521	25925	broad.mit.edu	37	chr18	22805592	22805592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggagctgcaagtcagtttCgttgcggaagtcccagttgc	13	9	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:22805592C>T	ENST00000361524.3	-	4	2438	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K	ZNF521_ENST00000538137.2_Missense_Mutation_p.E764K|ZNF521_ENST00000584787.1_Missense_Mutation_p.E544K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	764					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAGTCAGTTTCGTTGCGGAAG	0.473			T	PAX5	ALL								False	0	True	18:22805592	0	T	22805592	C	T	22805592	3	4	89	1	0	0	0	0	1	0	0	0	18048	893	31	1	1665	1	ZNF521	18	22805592	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08		22805592	55271656	94	28618											
GALR1	2587	broad.mit.edu	37	chr18	74962928	74962928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccatcgtgcactcgcggCgctcctcctccctcagggtg	12	17	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:74962928C>T	ENST00000299727.3	+	1	424	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	142					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GCACTCGCGGCGCTCCTCCTC	0.657													False	0	False	18:74962928	0	T	74962928	C	T	74962928	3	4	89	1	0	0	0	0	1	0	0	0	6270	768	27	1	426	1	GALR1	18	74962928	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	52157336	74962928	3114320	95	28619											
SEMA6B	10501	broad.mit.edu	37	chr19	4555520	4555520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattggcgtgcttggggtcGtacgggcagcgggccatacc	16	11	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:4555520G>A	ENST00000586582.1	-	7	838	c.528C>T	c.(526-528)taC>taT	p.Y176Y	SEMA6B_ENST00000301293.3_Silent_p.Y176Y|SEMA6B_ENST00000586965.1_Silent_p.Y176Y	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	176	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTGGGGTCGTACGGGCAGC	0.602													False	0	False	19:4555520	0	A	4555520	G	A	4555520	2	1	89	1	0	0	0	0	0	0	0	1	14121	1140	40	1		1	SEMA6B	19	4555520	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08		4555520	54573463	96	28620											
COL5A3	50509	broad.mit.edu	37	chr19	10081324	10081324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggggggcccgggggcgcCgggctccccagaagctccag	19	16	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:10081324C>T	ENST00000264828.3	-	54	3995	c.3910G>A	c.(3910-3912)Ggc>Agc	p.G1304S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1304	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ccgggggcgccgggcTCCCCA	0.607													False	0	True	19:10081324	0	T	10081324	C	T	10081324	3	4	89	1	0	0	0	0	1	0	0	0	3721	652	23	1	1383	1	COL5A3	19	10081324	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	5525804	10081324	49047659	97	28621											
CACNA1A	773	broad.mit.edu	37	chr19	13409765	13409765	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactcgcggccgtagggtccCtcccggctcagctcggcctc	13	18	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:13409765C>A	ENST00000360228.5	-	19	2681	c.2682G>T	c.(2680-2682)gaG>gaT	p.E894D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E895D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	895					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGTAGGGTCCCTCCCGGCTCA	0.771													False	0	True	19:13409765	0	A	13409765	C	A	13409765	3	1	89	1	0	0	0	0	1	0	0	0	2558	680	24	3	5056	3	CACNA1A	19	13409765	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	3328441	13409765	45719218	98	28622											
TIMM50	92609	broad.mit.edu	37	chr19	39980444	39980444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagccgcttgtggcctcGctccaaacagccctgaactc	8	18	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:39980444G>A	ENST00000314349.4	+	11	1488	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H	TIMM50_ENST00000599794.1_Missense_Mutation_p.R153H|TIMM50_ENST00000544017.1_Missense_Mutation_p.R236H|TIMM50_ENST00000607714.1_Missense_Mutation_p.R349H	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	349					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	p.R452H(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTGTGGCCTCGCTCCAAACAG	0.617													False	0	False	19:39980444	0	A	39980444	G	A	39980444	3	1	89	1	0	0	0	0	1	0	0	0	15995	1087	38	1	1397	1	TIMM50	19	39980444	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	26570679	39980444	19148539	99	28623											
CCDC9	26093	broad.mit.edu	37	chr19	47774666	47774668	+	In_Frame_Del	DEL	GAG	GAG	-													tcgaggtggaagaaggtgatGaggaggaaccagcccaagac					rs79550409		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:47774666_47774668delGAG	ENST00000221922.6	+	12	1549_1551	c.1327_1329delGAG	c.(1327-1329)gagdel	p.E445del		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	445	Glu-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		agaaggtgatgaggaggaACCAG	0.606													False	2	False	19:47774666	0	-	47774668	GAG	-	47774666	7	5	89	1	0	1	0	1	0	0	0	0	2888	1291	45	0	1369	0	CCDC9	19	47774666	In_Frame_Del	DEL	GAG	TCGA-IB-7652-01A-11D-2154-08	7794222	47774666	11354317	100	28624											
KCNA7	3743	broad.mit.edu	37	chr19	49573363	49573365	+	In_Frame_Del	DEL	GGA	GGA	-													tccctgggggtgcccagagtGgaggtggtagctcaggtacc					rs79563011		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GGA	GGA	-	-	GGA	GGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:49573363_49573365delGGA	ENST00000221444.1	-	2	1681_1683	c.1326_1328delTCC	c.(1324-1329)cctcca>cca	p.442_443PP>P		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	442						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		TGCCCAGAGTGGAGGTGGTAGCT	0.631													False	1	False	19:49573363	0	-	49573365	GGA	-	49573363	7	5	89	1	0	1	0	1	0	0	0	0	8058	1348	47	0	46	0	KCNA7	19	49573363	In_Frame_Del	DEL	GGA	TCGA-IB-7652-01A-11D-2154-08	1798697	49573363	9555620	101	28625											
RASSF2	9770	broad.mit.edu	37	chr20	4770321	4770339	+	Frame_Shift_Del	DEL	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	-													ggacgttggtgacagagccaTaggctggtgtgaacacggat							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	-	-	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:4770321_4770339delTAGGCTGGTGTGAACACGG	ENST00000379400.3	-	8	737_755	c.542_560delCCGTGTTCACACCAGCCTA	c.(541-561)tccgtgttcacaccagcctatfs	p.SVFTPAY181fs	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Frame_Shift_Del_p.SVFTPAY181fs	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	181	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GACAGAGCCATAGGCTGGTGTGAACACGGATGTCTGTCA	0.539													False	1	False	20:4770321	0	-	4770339	TAGGCTGGTGTGAACACGG	-	4770321	7	5	89	1	0	1	0	1	0	0	0	0	13165	1406	49	0	440	0	RASSF2	20	4770321	Frame_Shift_Del	DEL	TAGGCTGGTGTGAACACGG	TCGA-IB-7652-01A-11D-2154-08		4770321	58255199	102	28626											
HCK	3055	broad.mit.edu	37	chr20	30662501	30662501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcaactatgtcgcccgCgttgactctctggagacaga	10	13	1	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:30662501C>T	ENST00000534862.1	+	6	708	c.345C>T	c.(343-345)cgC>cgT	p.R115R	HCK_ENST00000520553.1_Silent_p.R114R|HCK_ENST00000538448.1_Silent_p.R114R|HCK_ENST00000518730.1_Silent_p.R113R|HCK_ENST00000375852.2_Silent_p.R135R|HCK_ENST00000375862.2_Silent_p.R134R	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	135	SH3.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGTCGCCCGCGTTGACTCTC	0.552													False	0	False	20:30662501	0	T	30662501	C	T	30662501	2	4	89	1	0	0	0	0	0	0	0	1	7041	755	27	1		1	HCK	20	30662501	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	25892180	30662501	32363019	103	28627											
CCT8L2	150160	broad.mit.edu	37	chr22	17073061	17073061	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccggagctgcgggcgaggcAggccagccttcagcagctgc	16	15	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:17073061A>T	ENST00000359963.3	-	1	639	c.380T>A	c.(379-381)cTg>cAg	p.L127Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	127					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGGCGAGGCAGGCCAGCCTT	0.642													False	0	True	22:17073061	0	T	17073061	A	T	17073061	3	4	89	1	0	0	0	0	1	0	0	0	2984	188	7	5	1297	5	CCT8L2	22	17073061	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08		17073061	34231505	104	28628											
CECR2	27443	broad.mit.edu	37	chr22	18003349	18003349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgtctgtcgaccagccGtcctgtagccagagccaact	10	14	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:18003349G>A	ENST00000262608.8	+	8	1037	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	CECR2_ENST00000342247.5_Missense_Mutation_p.R317H|CECR2_ENST00000400585.2_Intron|CECR2_ENST00000400573.5_Intron	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	387					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCGACCAGCCGTCCTGTAGCC	0.448													False	0	False	22:18003349	0	A	18003349	G	A	18003349	3	1	89	1	0	0	0	0	1	0	0	0	3229	1145	40	1	1066	1	CECR2	22	18003349	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	930288	18003349	33301217	105	28629											
RFPL1	5988	broad.mit.edu	37	chr22	29837567	29837569	+	In_Frame_Del	DEL	TCC	TCC	-													tgccgacacagccaacaactTcctcctcatttctgacgacc					rs71324764		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TCC	TCC	-	-	TCC	TCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:29837567_29837569delTCC	ENST00000354373.2	+	2	619_621	c.410_412delTCC	c.(409-414)ttcctc>ttc	p.L139del	RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	139	B30.2/SPRY.		Missing (in RFPL1S).				zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GCCAACAACTTCCTCCTCATTTC	0.502													False	2	False	22:29837567	0	-	29837569	TCC	-	29837567	7	5	89	1	0	1	0	1	0	0	0	0	13332	1783	62	0	416	0	RFPL1	22	29837567	In_Frame_Del	DEL	TCC	TCGA-IB-7652-01A-11D-2154-08	11834218	29837567	21466999	106	28630											
APOL5	80831	broad.mit.edu	37	chr22	36124922	36124922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaagaaaggggagacagGccccgggaagacaccgacaa	14	11	0	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:36124922G>A	ENST00000249044.2	+	4	1279	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	427					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GGGGAGACAGGCCCCGGGAAG	0.612													False	0	True	22:36124922	0	A	36124922	G	A	36124922	3	1	89	1	0	0	0	0	1	0	0	0	811	1203	42	2	1293	2	APOL5	22	36124922	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	6287355	36124922	15179644	107	28631											
ASB9	140462	broad.mit.edu	37	chrX	15266898	15266898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagagctgggccaaggggCtctctggaggcaccagctcc	15	12	1	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:15266898C>T	ENST00000546332.1	-	7	1211	c.728G>A	c.(727-729)aGc>aAc	p.S243N	ASB9_ENST00000380485.3_Missense_Mutation_p.S243N|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.S233N|ASB9_ENST00000380488.4_Missense_Mutation_p.S243N	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	243	SOCS box.				intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GGCCAAGGGGCTCTCTGGAGG	0.557													False	0	True	X:15266898	0	T	15266898	C	T	15266898	3	4	89	1	0	0	0	0	1	0	0	0	1034	797	28	2	193	2	ASB9	23	15266898	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08		15266898	140003662	108	28632											
ASB9	140462	broad.mit.edu	37	chrX	15266926	15266926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaccagctccacaggacGtttgccttcagcattcttgg	10	13	2	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:15266926G>A	ENST00000546332.1	-	7	1183	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C	ASB9_ENST00000380485.3_Missense_Mutation_p.R234C|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.R224C|ASB9_ENST00000380488.4_Missense_Mutation_p.R234C	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	234					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TCCACAGGACGTTTGCCTTCA	0.557													False	0	True	X:15266926	0	A	15266926	G	A	15266926	3	1	89	1	0	0	0	0	1	0	0	0	1034	1145	40	1	221	1	ASB9	23	15266926	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	28	15266926	140003634	109	28633											
PPEF1	5475	broad.mit.edu	37	chrX	18845404	18845404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttttaggcctgatctcCgtggaagaatttcgtgccat	9	9	2	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:18845404C>T	ENST00000361511.4	+	19	2255	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	PPEF1_ENST00000359763.6_Silent_p.S534S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000544635.1_Silent_p.S522S|PPEF1_ENST00000349874.5_Silent_p.S525S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	587	EF-hand 2.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GCCTGATCTCCGTGGAAGAAT	0.418													False	0	False	X:18845404	0	T	18845404	C	T	18845404	2	4	89	1	0	0	0	0	0	0	0	1	12376	639	23	1		1	PPEF1	23	18845404	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	3578478	18845404	136425156	110	28634											
CXorf21	80231	broad.mit.edu	37	chrX	30578132	30578132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatacttttgcaagaagatGgaaccaagtaggtctctctg	9	7	2	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:30578132G>T	ENST00000378962.3	-	3	663	c.341C>A	c.(340-342)cCa>cAa	p.P114Q		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	114										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GCAAGAAGATGGAACCAAGTA	0.443													False	0	False	X:30578132	0	T	30578132	G	T	30578132	3	4	89	1	0	0	0	0	1	0	0	0	4126	1348	47	3	568	3	CXorf21	23	30578132	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	11732728	30578132	124692428	111	28635											
DMD	1756	broad.mit.edu	37	chrX	31198512	31198512	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatattccaccatgggaTagtgcattttatggcctttt	8	8	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:31198512T>A	ENST00000357033.4	-	69	10267	c.10061A>T	c.(10060-10062)tAt>tTt	p.Y3354F	DMD_ENST00000361471.4_Missense_Mutation_p.Y286F|DMD_ENST00000378680.2_Missense_Mutation_p.Y286F|DMD_ENST00000343523.2_Missense_Mutation_p.Y894F|DMD_ENST00000541735.1_Missense_Mutation_p.Y894F|DMD_ENST00000474231.1_Missense_Mutation_p.Y894F|DMD_ENST00000378707.3_Missense_Mutation_p.Y894F|DMD_ENST00000359836.1_Missense_Mutation_p.Y894F|DMD_ENST00000378702.4_Missense_Mutation_p.Y286F|DMD_ENST00000378677.2_Missense_Mutation_p.Y3350F|DMD_ENST00000378723.3_Missense_Mutation_p.Y286F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3354	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CACCATGGGATAGTGCATTTT	0.418													False	0	False	X:31198512	0	A	31198512	T	A	31198512	3	1	89	1	0	0	0	0	1	0	0	0	4610	1406	49	5	1130	5	DMD	23	31198512	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	620380	31198512	124072048	112	28636											
CXorf22	170063	broad.mit.edu	37	chrX	35989882	35989882	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaggaggaagagtctgtgaGaagaaaggcacgtgcaatgt	15	5	2	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:35989882G>A	ENST00000297866.5	+	12	2216	c.2150G>A	c.(2149-2151)aGa>aAa	p.R717K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	717										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAGTCTGTGAGAAGAAAGGCA	0.368													False	0	False	X:35989882	0	A	35989882	G	A	35989882	3	1	89	1	0	0	0	0	1	0	0	0	4127	942	33	2	2196	2	CXorf22	23	35989882	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	4791370	35989882	119280678	113	28637											
HEPH	9843	broad.mit.edu	37	chrX	65409671	65409671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgactacccgtggacaCcacactgatgtggctaacat	9	12	0	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:65409671C>T	ENST00000519389.1	+	6	1295	c.1116C>T	c.(1114-1116)caC>caT	p.H372H	HEPH_ENST00000374727.3_Silent_p.H321H|HEPH_ENST00000441993.2_Silent_p.H321H|HEPH_ENST00000343002.2_Silent_p.H318H|HEPH_ENST00000419594.1_Silent_p.H321H|HEPH_ENST00000336279.5_Silent_p.H51H			Q9BQS7	HEPH_HUMAN	hephaestin	318					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCGTGGACACCACACTGATG	0.507													False	0	False	X:65409671	0	T	65409671	C	T	65409671	2	4	89	1	0	0	0	0	0	0	0	1	7101	506	18	2		2	HEPH	23	65409671	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	29419789	65409671	89860889	114	28638											
PCDH11X	27328	broad.mit.edu	37	chrX	91090988	91090988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaaatatactctcccagCggctgttgatcctgacgtag	8	12	2	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:91090988C>T	ENST00000373094.1	+	1	1330	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	162	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTCTCCCAGCGGCTGTTGAT	0.343													False	0	False	X:91090988	0	T	91090988	C	T	91090988	3	4	89	1	0	0	0	0	1	0	0	0	11576	768	27	1	487	1	PCDH11X	23	91090988	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	25681317	91090988	64179572	115	28639											
TCEAL5	340543	broad.mit.edu	37	chrX	102529240	102529240	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggcttgccctcactttgTggcttgtcctcaccttcaga	9	14	3	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:102529240T>A	ENST00000372680.1	-	3	546	c.252A>T	c.(250-252)ccA>ccT	p.P84P		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CCTCACTTTGTGGCTTGTCCT	0.587													False	0	False	X:102529240	0	A	102529240	T	A	102529240	2	1	89	1	0	0	0	0	0	0	0	1	15756	1683	59	5		5	TCEAL5	23	102529240	Silent	SNP	T	TCGA-IB-7652-01A-11D-2154-08	11438252	102529240	52741320	116	28640											
IRS4	8471	broad.mit.edu	37	chrX	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-													ctgctgctagagctgccgctGccgccgctgctgcacctctt					rs2073114	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616													False	2	True	X:107979510	0	-	107979512	GCC	-	107979510	7	5	89	1	0	1	0	1	0	0	0	0	7892	1319	46	0	3712	0	IRS4	23	107979510	In_Frame_Del	DEL	GCC	TCGA-IB-7652-01A-11D-2154-08	5450270	107979510	47291050	117	28641											
DOCK11	139818	broad.mit.edu	37	chrX	117742086	117742096	+	Frame_Shift_Del	DEL	TCTAAGATCAT	TCTAAGATCAT	-													gaagaaggcttggatagttaTctaagatcattcataaaggt							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	TCTAAGATCAT	TCTAAGATCAT	-	-	TCTAAGATCAT	TCTAAGATCAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:117742086_117742096delTCTAAGATCAT	ENST00000276204.6	+	25	2807_2817	c.2733_2743delTCTAAGATCAT	c.(2731-2745)tatctaagatcattcfs	p.LRSF912fs	DOCK11_ENST00000276202.7_Frame_Shift_Del_p.LRSF912fs			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	912					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGGATAGTTATCTAAGATCATTCATAAAGGT	0.313													False	1	False	X:117742086	0	-	117742096	TCTAAGATCAT	-	117742086	7	5	89	1	0	1	0	1	0	0	0	0	4716	1442	50	0	2831	0	DOCK11	23	117742086	Frame_Shift_Del	DEL	TCTAAGATCAT	TCGA-IB-7652-01A-11D-2154-08	9762576	117742086	37528474	118	28642											
IGSF1	3547	broad.mit.edu	37	chrX	130409231	130409231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccaccatgggaccaggctGggctaataggctgggtttgg	17	9	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:130409231G>C	ENST00000370904.1	-	23	4097	c.3187C>G	c.(3187-3189)Cag>Gag	p.Q1063E	IGSF1_ENST00000370903.3_Missense_Mutation_p.Q1077E|IGSF1_ENST00000361420.3_Missense_Mutation_p.Q1072E|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q1063E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1072					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.Q1072*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGACCAGGCTGGGCTAATAGG	0.542													False	0	True	X:130409231	0	C	130409231	G	C	130409231	3	2	89	1	0	0	0	0	1	0	0	0	7646	1357	47	5	812	5	IGSF1	23	130409231	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	12667145	130409231	24861329	119	28643											
IDS	3423	broad.mit.edu	37	chrX	148579704	148579704	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagaaaggactggctgaCgttttcatcttttccaacaa	9	8	2	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:148579704C>A	ENST00000340855.6	-	5	851	c.642G>T	c.(640-642)acG>acT	p.T214T	IDS_ENST00000370441.4_Silent_p.T214T|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370443.4_Silent_p.T214T|IDS_ENST00000541269.1_Silent_p.T3T|IDS_ENST00000422081.2_Silent_p.T3T	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	214						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GACTGGCTGACGTTTTCATCT	0.532													False	0	False	X:148579704	0	A	148579704	C	A	148579704	2	1	89	1	0	0	0	0	0	0	0	1	7553	523	19	3		3	IDS	23	148579704	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	18170473	148579704	6690856	120	28644											
MTM1	4534	broad.mit.edu	37	chrX	149826497	149826497	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttttggacataaatttgcAtctgtgagtaaacaaagcta	8	5	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:149826497A>C	ENST00000370396.2	+	11	1311	c.1257A>C	c.(1255-1257)gcA>gcC	p.A419A	MTM1_ENST00000413012.2_Silent_p.A382A|MTM1_ENST00000542741.1_Silent_p.A324A|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.A304A	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	419	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAATTTGCATCTGTGAGTA	0.318													False	0	False	X:149826497	0	C	149826497	A	C	149826497	2	2	89	1	0	0	0	0	0	0	0	1	10004	204	8	4		4	MTM1	23	149826497	Silent	SNP	A	TCGA-IB-7652-01A-11D-2154-08	1246793	149826497	5444063	121	28645											
FLNA	0	broad.mit.edu	37	chrX	153577233	153577233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactcagggcaccacaacgCggtaggggctgcctgggatg	16	11	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:153577233C>T	ENST00000422373.1	-	47	8152	c.7904G>A	c.(7903-7905)cGc>cAc	p.R2635H	FLNA_ENST00000369856.3_Missense_Mutation_p.R776H|FLNA_ENST00000344736.4_Missense_Mutation_p.R2603H|FLNA_ENST00000369850.3_Missense_Mutation_p.R2643H|FLNA_ENST00000360319.4_Missense_Mutation_p.R2635H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2643	Self-association site, tail.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCACAACGCGGTAGGGGCT	0.687													False	0	False	X:153577233	0	T	153577233	C	T	153577233	3	4	89	1	0	0	0	0	1	0	0	0	5973	768	27	1	19	1	FLNA	23	153577233	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	3750736	153577233	1693327	122	28646											
NOL9	79707	broad.mit.edu	37	chr1	6592130	6592131	+	In_Frame_Ins	INS	-	-	CACACT													gatctcgaagaattttgttaINStgtgactctctgaaaggcaa					rs148428201		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:6592130_6592131insCACACT	ENST00000377705.5	-	9	1576_1577	c.1544_1545insAGTGTG	c.(1543-1545)cat>caAGTGTGt	p.515_515H>QVC		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	515					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GAATTTTGTTATGTGACTCTCT	0.47													False	0	False	1:6592130	0	CACACT	6592131	-	CACACT	6592130	7	5	90	1	0	1	1	0	0	0	0	0	10596	446	16	0	579	0	NOL9	1	6592130	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		6592130	242658491	1	28647											
ADC	113451	broad.mit.edu	37	chr1	33558973	33558974	+	In_Frame_Ins	INS	-	-	CGC													tgaaatcctgcagacacctgINScttgaaaatgcgaagaagca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:33558973_33558974insCGC	ENST00000294517.6	+	7	1130_1131	c.543_544insCGC	c.(544-546)ctt>CGCctt	p.181_182insR	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_In_Frame_Ins_p.181_182insR|ADC_ENST00000373441.1_In_Frame_Ins_p.181_182insR|ADC_ENST00000358680.3_Intron|ADC_ENST00000398167.1_In_Frame_Ins_p.181_182insR|ADC_ENST00000373440.1_Intron	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	181					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	GCAGACACCTGCTTGAAAATGC	0.564													False	0	False	1:33558973	0	CGC	33558974	-	CGC	33558973	7	5	90	1	0	1	1	0	0	0	0	0	287	1306	46	0	557	0	ADC	1	33558973	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	26966843	33558973	215691648	2	28648											
OSBPL9	114883	broad.mit.edu	37	chr1	52249642	52249642	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atacaattcaatgctcatatCtggaccaaatcaaaattcct	3	10	4	0	rs61743086	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249642C>G	ENST00000371710.3	+	18	1805	c.1623C>G	c.(1621-1623)atC>atG	p.I541M	OSBPL9_ENST00000462759.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I533M|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I413M|OSBPL9_ENST00000428468.1_Missense_Mutation_p.I523M|OSBPL9_ENST00000486942.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I506M|OSBPL9_ENST00000337809.4_Missense_Mutation_p.I528M|OSBPL9_ENST00000371714.1_Missense_Mutation_p.I510M|OSBPL9_ENST00000530544.1_Missense_Mutation_p.I442M|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I358M|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I358M	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	523					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATGCTCATATCTGGACCAAAT	0.368													False	0	False	1:52249642	0	G	52249642	C	G	52249642	3	3	90	1	0	0	0	0	1	0	0	0	11352	903	32	5	1743	5	OSBPL9	1	52249642	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	18690669	52249642	197000979	3	28649			1	14		3	3	329	C		3.325952e-06
OSBPL9	114883	broad.mit.edu	37	chr1	52249653	52249653	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctcatatctggaccaaatCaaaattccttgggatgtcaa	7	9	4	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249653C>T	ENST00000371710.3	+	18	1816	c.1634C>T	c.(1633-1635)tCa>tTa	p.S545L	OSBPL9_ENST00000462759.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S537L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S417L|OSBPL9_ENST00000428468.1_Missense_Mutation_p.S527L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S510L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S532L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S514L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S446L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S362L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S362L	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	527					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TGGACCAAATCAAAATTCCTT	0.348													False	0	True	1:52249653	0	T	52249653	C	T	52249653	3	4	90	1	0	0	0	0	1	0	0	0	11352	838	29	2	1754	2	OSBPL9	1	52249653	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	11	52249653	197000968	4	28650			1	14		3	3	329	C		3.325952e-06
OSBPL9	114883	broad.mit.edu	37	chr1	52249970	52249970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagactatgatgaacattaCattctcacattccccaatgg	5	11	1	3			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249970C>T	ENST00000371710.3	+	19	1895	c.1713C>T	c.(1711-1713)taC>taT	p.Y571Y	OSBPL9_ENST00000462759.1_Silent_p.Y375Y|OSBPL9_ENST00000447887.1_Silent_p.Y563Y|OSBPL9_ENST00000361556.5_Silent_p.Y443Y|OSBPL9_ENST00000428468.1_Silent_p.Y553Y|OSBPL9_ENST00000486942.1_Silent_p.Y375Y|OSBPL9_ENST00000453295.1_Silent_p.Y536Y|OSBPL9_ENST00000337809.4_Silent_p.Y558Y|OSBPL9_ENST00000371714.1_Silent_p.Y540Y|OSBPL9_ENST00000530544.1_Silent_p.Y472Y|OSBPL9_ENST00000435686.2_Silent_p.Y388Y|OSBPL9_ENST00000531828.1_Silent_p.Y388Y	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	553					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATGAACATTACATTCTCACAT	0.488													False	0	True	1:52249970	0	T	52249970	C	T	52249970	2	4	90	1	0	0	0	0	0	0	0	1	11352	489	17	2		2	OSBPL9	1	52249970	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	317	52249970	197000651	5	28651			1	14		3	3	329	C		3.325952e-06
MIER1	57708	broad.mit.edu	37	chr1	67436637	67436638	+	Frame_Shift_Ins	INS	-	-	TTAAACAAATTTCT													atctcacataaaagacaatgINSaacaggtctgtgaaagaaac							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:67436637_67436638insTTAAACAAATTTCT	ENST00000357692.2	+	10	1068_1069	c.811_812insTTAAACAAATTTCT	c.(811-813)gaafs	p.E271fs	MIER1_ENST00000371014.1_Frame_Shift_Ins_p.E307fs|MIER1_ENST00000401041.1_Frame_Shift_Ins_p.E307fs|MIER1_ENST00000355356.3_Frame_Shift_Ins_p.E254fs|MIER1_ENST00000401042.3_Frame_Shift_Ins_p.E254fs|MIER1_ENST00000371018.3_Frame_Shift_Ins_p.E271fs|MIER1_ENST00000355977.6_Frame_Shift_Ins_p.E191fs|MIER1_ENST00000371016.1_Frame_Shift_Ins_p.E271fs	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	278	ELM2.|Interaction with HDAC1.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						AAAAGACAATGAACAGGTCTGT	0.347													False	0	False	1:67436637	0	TTAAACAAATTTCT	67436638	-	TTAAACAAATTTCT	67436637	7	5	90	1	0	1	1	0	0	0	0	0	9647	1291	45	0	1030	0	MIER1	1	67436637	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	15186667	67436637	181813984	6	28652											
GBP3	2635	broad.mit.edu	37	chr1	89479062	89479063	+	Frame_Shift_Ins	INS	-	-	ACTCATTGTTAAAACTAAA													tttctttgggaagaacttccINSggatacagagtcggggcaga					rs4656077	by1000genomes	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:89479062_89479063insACTCATTGTTAAAACTAAA	ENST00000370481.4	-	6	893_894	c.673_674insTTTAGTTTTAACAATGAGT	c.(673-675)cggfs	p.R225fs		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	225			R -> W (in dbSNP:rs4656077).			integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GAAGAACTTCCGGATACAGAGT	0.401													False	0	False	1:89479062	0	ACTCATTGTTAAAACTAAA	89479063	-	ACTCATTGTTAAAACTAAA	89479062	7	5	90	1	0	1	1	0	0	0	0	0	6318	652	23	0	1137	0	GBP3	1	89479062	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	22042425	89479062	159771559	7	28653											
GBP5	115362	broad.mit.edu	37	chr1	89732222	89732223	+	Frame_Shift_Ins	INS	-	-	AATTTAA													tcttttttggaaagaacttcINStgtatacacagacggggcaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:89732222_89732223insAATTTAA	ENST00000370459.3	-	6	801_802	c.674_675insTTAAATT	c.(673-675)cagfs	p.Q225fs	GBP5_ENST00000343435.5_Frame_Shift_Ins_p.Q225fs|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	225						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GAAAGAACTTCTGTATACACAG	0.366													False	0	False	1:89732222	0	AATTTAA	89732223	-	AATTTAA	89732222	7	5	90	1	0	1	1	0	0	0	0	0	6320	912	32	0	1109	0	GBP5	1	89732222	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	253160	89732222	159518399	8	28654											
OVGP1	5016	broad.mit.edu	37	chr1	111957212	111957213	+	In_Frame_Ins	INS	-	-	CCAGAATAG													gaacaaagcggttgtcaaaaINSgctagaggagtttgttccgg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:111957212_111957213insCCAGAATAG	ENST00000369732.3	-	11	1965_1966	c.1910_1911insCTATTCTGG	c.(1909-1911)gct>gcCTATTCTGGt	p.637_638insYSG		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	637					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGTTGTCAAAAGCTAGAGGAGT	0.475													False	0	True	1:111957212	0	CCAGAATAG	111957213	-	CCAGAATAG	111957212	7	5	90	1	0	1	1	0	0	0	0	0	11393	59	3	0	129	0	OVGP1	1	111957212	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	22224990	111957212	137293409	9	28655	296	2									
OVGP1	5016	broad.mit.edu	37	chr1	111957214	111957215	+	Frame_Shift_Ins	INS	-	-	CAATCTCTTTTCCA													acaaagcggttgtcaaaagcINStagaggagtttgttccggga					rs61741101	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:111957214_111957215insCAATCTCTTTTCCA	ENST00000369732.3	-	11	1963_1964	c.1908_1909insTGGAAAAGAGATTG	c.(1906-1911)ctagctfs	p.A637fs		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	637					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTGTCAAAAGCTAGAGGAGTTT	0.48													False	0	False	1:111957214	0	CAATCTCTTTTCCA	111957215	-	CAATCTCTTTTCCA	111957214	7	5	90	1	0	1	1	0	0	0	0	0	11393	797	28	0	131	0	OVGP1	1	111957214	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	111957214	137293407	10	28656	296	2									
TRIM33	51592	broad.mit.edu	37	chr1	114948223	114948224	+	In_Frame_Ins	INS	-	-	AGGTACCAG													ttcgaattggggactttccaINSttaacaaggctgctgagccc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:114948223_114948224insAGGTACCAG	ENST00000358465.2	-	15	2659_2660	c.2576_2577insCTGGTACCT	c.(2575-2577)aat>aaCTGGTACCTt	p.859_860insWYL	TRIM33_ENST00000450349.2_In_Frame_Ins_p.491_492insWYL|TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_In_Frame_Ins_p.859_860insWYL	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	859					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGACTTTCCATTAACAAGGCT	0.46			T	RET	papillary thyroid								False	0	False	1:114948223	0	AGGTACCAG	114948224	-	AGGTACCAG	114948223	7	5	90	1	0	1	1	0	0	0	0	0	16590	214	8	0	830	0	TRIM33	1	114948223	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2991009	114948223	134302398	11	28657											
NGF	4803	broad.mit.edu	37	chr1	115829233	115829233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtctgccccgccacgcGtgcagctatcgccgctgccg	14	18	1	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:115829233G>A	ENST00000369512.2	-	3	352	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	62					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCCGCCACGCGTGCAGCTATC	0.632													False	0	False	1:115829233	0	A	115829233	G	A	115829233	3	1	90	1	0	0	0	0	1	0	0	0	10463	1145	40	1	545	1	NGF	1	115829233	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	881010	115829233	133421388	12	28658											
NOTCH2	4853	broad.mit.edu	37	chr1	120458705	120458706	+	In_Frame_Ins	INS	-	-	ATAGCT													gagggaagcacagtgctggcINScccatgtgccaaaggctgca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:120458705_120458706insATAGCT	ENST00000256646.2	-	34	6858_6859	c.6639_6640insAGCTAT	c.(6637-6642)ggggcc>gggAGCTATgcc	p.2213_2214GA>GSYA		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2213					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGTGCTGGCCCCATGTGCCA	0.564			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				False	0	True	1:120458705	0	ATAGCT	120458706	-	ATAGCT	120458705	7	5	90	1	0	1	1	0	0	0	0	0	10616	739	26	0	779	0	NOTCH2	1	120458705	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	4629472	120458705	128791916	13	28659											
PDE4DIP	9659	broad.mit.edu	37	chr1	144871881	144871883	+	Splice_Site	DEL	CCT	CCT	-													gtatggagtgaaaatgaaagCctaggaaaagaaagttaagg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:144871881_144871883delCCT	ENST00000530740.1	-	34	5374	c.5336delAGG	c.(5335-5337)gag>gg	p.E1779del	PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Splice_Site_p.E1694del|PDE4DIP_ENST00000369356.4_Splice_Site_p.E1694del|PDE4DIP_ENST00000369359.4_Splice_Site_p.E1830del|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1694					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAAATGAAAGCCTAGGAAAAGAA	0.468			T	PDGFRB	MPD								False	1	False	1:144871881	0	-	144871883	CCT	-	144871881	8	5	90	1	0	1	0	1	0	0	1	0	11711	753	26	0	2011	0	PDE4DIP	1	144871881	Splice_Site	DEL	CCT	TCGA-IB-7885-01A-11D-2154-08	24413176	144871881	104378740	14	28660											
SEC22B	9554	broad.mit.edu	37	chr1	145115910	145115911	+	RNA	INS	-	-	AAGTATTTTACCGAAAGTAT													ataatgaatacagtcactggINStaagggagaacctagaaccc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:145115910_145115911insAAGTATTTTACCGAAAGTAT	ENST00000453618.1	+	0	996_997							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										ACAGTCACTGGTAAGGGAGAAC	0.401													False	0	False	1:145115910	0	AAGTATTTTACCGAAAGTAT	145115911	-	AAGTATTTTACCGAAAGTAT	145115910	6	5	90	0	1	1	1	0	0	0	0	0	14070	1276	44	0		0	SEC22B	1	145115910	RNA	INS	-	TCGA-IB-7885-01A-11D-2154-08	244029	145115910	104134711	15	28661											
POLR3C	10623	broad.mit.edu	37	chr1	145594112	145594113	+	Frame_Shift_Ins	INS	-	-	ACTAGCAATT													atctcctctatttcttgtaaINSctgtgcttcctctgcaccag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:145594112_145594113insACTAGCAATT	ENST00000334163.3	-	14	1609_1610	c.1449_1450insAATTGCTAGT	c.(1447-1452)cagttafs	p.L484fs	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	484					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			ATTTCTTGTAACTGTGCTTCCT	0.446													False	0	False	1:145594112	0	ACTAGCAATT	145594113	-	ACTAGCAATT	145594112	7	5	90	1	0	1	1	0	0	0	0	0	12299	40	2	0	162	0	POLR3C	1	145594112	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	478202	145594112	103656509	16	28662											
NUP210L	91181	broad.mit.edu	37	chr1	154030623	154030624	+	In_Frame_Ins	INS	-	-	CAGATTTTCTCC													tccatgtttctgaagtatttINSattttggaatgggcgtttgg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:154030623_154030624insCAGATTTTCTCC	ENST00000368559.3	-	22	3119_3120	c.3048_3049insGGAGAAAATCTG	c.(3046-3051)aataaa>aatGGAGAAAATCTGaaa	p.1016_1017NK>NGENLK	NUP210L_ENST00000271854.3_In_Frame_Ins_p.1016_1017NK>NGENLK	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1016						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	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)			CTGAAGTATTTATTTTGGAATG	0.386													False	0	True	1:154030623	0	CAGATTTTCTCC	154030624	-	CAGATTTTCTCC	154030623	7	5	90	1	0	1	1	0	0	0	0	0	10829	1763	61	0	2693	0	NUP210L	1	154030623	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	8436511	154030623	95219998	17	28663											
ASH1L	55870	broad.mit.edu	37	chr1	155447927	155447928	+	In_Frame_Ins	INS	-	-	GACACT													ttggagaactttctgaacagINStcaatctgtaaaggtgtctg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:155447927_155447928insGACACT	ENST00000368346.3	-	3	5372_5373	c.4733_4734insAGTGTC	c.(4732-4734)gac>gaAGTGTCc	p.1578_1578D>EVS	ASH1L_ENST00000392403.3_In_Frame_Ins_p.1578_1578D>EVS			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1578					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCTGAACAGTCAATCTGTAA	0.455													False	0	False	1:155447927	0	GACACT	155447928	-	GACACT	155447927	7	5	90	1	0	1	1	0	0	0	0	0	1045	1020	36	0	4264	0	ASH1L	1	155447927	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1417304	155447927	93802694	18	28664	297	2									
ASH1L	55870	broad.mit.edu	37	chr1	155447929	155447930	+	Frame_Shift_Ins	INS	-	-	ACTA													ggagaactttctgaacagtcINSaatctgtaaaggtgtctgca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:155447929_155447930insACTA	ENST00000368346.3	-	3	5370_5371	c.4731_4732insTAGT	c.(4729-4734)attgacfs	p.D1578fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.D1578fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1578					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTGAACAGTCAATCTGTAAAG	0.455													False	0	False	1:155447929	0	ACTA	155447930	-	ACTA	155447929	7	5	90	1	0	1	1	0	0	0	0	0	1045	826	29	0	4266	0	ASH1L	1	155447929	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	155447929	93802692	19	28665	297	2									
GON4L	54856	broad.mit.edu	37	chr1	155736113	155736114	+	In_Frame_Ins	INS	-	-	TATCCACCA													ggagggacacctggaactgtINSctgtaaaacagtggctggct					rs149688057		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:155736113_155736114insTATCCACCA	ENST00000437809.1	-	21	3272_3273	c.3150_3151insTGGTGGATA	c.(3148-3153)cagaca>cagTGGTGGATAaca	p.1050_1051QT>QWWIT	GON4L_ENST00000361040.5_In_Frame_Ins_p.1050_1051QT>QWWIT|GON4L_ENST00000271883.5_In_Frame_Ins_p.1050_1051QT>QWWIT|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_In_Frame_Ins_p.1050_1051QT>QWWIT			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1050					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTGGAACTGTCTGTAAAACAG	0.574													False	0	True	1:155736113	0	TATCCACCA	155736114	-	TATCCACCA	155736113	7	5	90	1	0	1	1	0	0	0	0	0	6617	1667	58	0	3736	0	GON4L	1	155736113	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	288184	155736113	93514508	20	28666											
ISG20L2	81875	broad.mit.edu	37	chr1	156697115	156697116	+	Frame_Shift_Ins	INS	-	-	GT													ctactttagcagcaacagaaINStcagccttttttgaaggggc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:156697115_156697116insGT	ENST00000313146.6	-	1	1111_1112	c.329_330insAC	c.(328-330)gatfs	p.D110fs	ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.D110fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	110					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCAACAGAATCAGCCTTTTT	0.515											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:156697115	0	GT	156697116	-	GT	156697115	7	5	90	1	0	1	1	0	0	0	0	0	7905	98	4	0	743	0	ISG20L2	1	156697115	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	961002	156697115	92553506	21	28667	298	2									
ISG20L2	81875	broad.mit.edu	37	chr1	156697117	156697118	+	Frame_Shift_Del	DEL	CA	CA	-													tactttagcagcaacagaatCagccttttttgaaggggcag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:156697117_156697118delCA	ENST00000313146.6	-	1	1109_1110	c.327_328delTG	c.(325-330)gctgatfs	p.D110fs	ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.D110fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	110					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAACAGAATCAGCCTTTTTTG	0.515											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	1	False	1:156697117	0	-	156697118	CA	-	156697117	7	5	90	1	0	1	0	1	0	0	0	0	7905	826	29	0	745	0	ISG20L2	1	156697117	Frame_Shift_Del	DEL	CA	TCGA-IB-7885-01A-11D-2154-08	2	156697117	92553504	22	28668	298	2									
ETV3L	440695	broad.mit.edu	37	chr1	157068532	157068532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgggcaccagcgctggcCgacacagggcaggggccccc	15	18	0	0	rs147712441	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:157068532C>T	ENST00000454449.2	-	3	736	c.452G>A	c.(451-453)cGg>cAg	p.R151Q		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	151			R -> W (in dbSNP:rs12083811).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CAGCGCTGGCCGACACAGGGC	0.647													False	0	False	1:157068532	0	T	157068532	C	T	157068532	3	4	90	1	0	0	0	0	1	0	0	0	5312	652	23	1	645	1	ETV3L	1	157068532	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	371415	157068532	92182089	23	28669											
SPTA1	6708	broad.mit.edu	37	chr1	158589107	158589108	+	Frame_Shift_Ins	INS	-	-	CATAGGGATGAAAT													gtcttgcctcttccttttgcINSagctcctgctcccgttccta							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:158589107_158589108insCATAGGGATGAAAT	ENST00000368148.3	-	45	6614_6615	c.6434_6435insATTTCATCCCTATG	c.(6433-6435)ctgfs	p.-2145fs	SPTA1_ENST00000368147.3_Frame_Shift_Ins_p.-2142fs	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCCTTTTGCAGCTCCTGCTC	0.465													False	0	False	1:158589107	0	CATAGGGATGAAAT	158589108	-	CATAGGGATGAAAT	158589107	7	5	90	1	0	1	1	0	0	0	0	0	15198	697	25	0	856	0	SPTA1	1	158589107	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1520575	158589107	90661514	24	28670											
SPTA1	6708	broad.mit.edu	37	chr1	158596687	158596687	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaaaggcataatcgtcTtccaattgcaacttccaagc	6	12	1	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:158596687T>G	ENST00000368147.4	-	41	5955	c.5775A>C	c.(5773-5775)gaA>gaC	p.E1925D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATAATCGTCTTCCAATTGCA	0.453													False	0	False	1:158596687	0	G	158596687	T	G	158596687	3	3	90	1	0	0	0	0	1	0	0	0	15198	1606	56	4	1532	4	SPTA1	1	158596687	Missense_Mutation	SNP	T	TCGA-IB-7885-01A-11D-2154-08	7580	158596687	90653934	25	28671											
FCER1A	2205	broad.mit.edu	37	chr1	159273851	159273851	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggttccacaatggcagcctTtcagaagagacaaattcaag	9	9	2	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:159273851T>A	ENST00000368115.1	+	4	309	c.210T>A	c.(208-210)ctT>ctA	p.L70L	FCER1A_ENST00000368114.1_Silent_p.L37L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	70	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ATGGCAGCCTTTCAGAAGAGA	0.368													False	0	True	1:159273851	0	A	159273851	T	A	159273851	2	1	90	1	0	0	0	0	0	0	0	1	5814	1828	64	5		5	FCER1A	1	159273851	Silent	SNP	T	TCGA-IB-7885-01A-11D-2154-08	677164	159273851	89976770	26	28672											
NUF2	83540	broad.mit.edu	37	chr1	163309268	163309269	+	Splice_Site	INS	-	-	AGATGAAGAAATTGTCTACTTT													ggattttcatcaaaaaacggINStatctgttgtgaggcacctt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:163309268_163309269insAGATGAAGAAATTGTCTACTTT	ENST00000271452.3	+	8	885		c.e8+1		NUF2_ENST00000524800.1_Splice_Site|NUF2_ENST00000367900.3_Splice_Site	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component						cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCAAAAAACGGTATCTGTTGTG	0.371													False	0	False	1:163309268	0	AGATGAAGAAATTGTCTACTTT	163309269	-	AGATGAAGAAATTGTCTACTTT	163309268	8	5	90	1	0	1	1	0	0	0	1	0	10815	1275	44	0	633	0	NUF2	1	163309268	Splice_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	4035417	163309268	85941353	27	28673											
FMO3	2328	broad.mit.edu	37	chr1	171080113	171080114	+	In_Frame_Ins	INS	-	-	TTAGTGACCATTTGT													tgcaagattcaagcatgaaaINSactatggcttgatgccttta							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:171080113_171080114insTTAGTGACCATTTGT	ENST00000367755.4	+	6	913_914	c.802_803insTTAGTGACCATTTGT	c.(802-804)aac>aTTAGTGACCATTTGTac	p.268_268N>ISDHLY	FMO3_ENST00000538429.1_In_Frame_Ins_p.205_205N>ISDHLY|FMO3_ENST00000392085.2_In_Frame_Ins_p.268_268N>ISDHLY|FMO3_ENST00000542847.1_In_Frame_Ins_p.248_248N>ISDHLY	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	268					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGCATGAAAACTATGGCTTG	0.441													False	0	True	1:171080113	0	TTAGTGACCATTTGT	171080114	-	TTAGTGACCATTTGT	171080113	7	5	90	1	0	1	1	0	0	0	0	0	5996	14	1	0	820	0	FMO3	1	171080113	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	7770845	171080113	78170508	28	28674											
SEC16B	89866	broad.mit.edu	37	chr1	177934213	177934213	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctcactatttgttccaaatgGactgtgctggttttcataat	7	8	2	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:177934213G>C	ENST00000308284.6	-	4	591	c.502C>G	c.(502-504)Cca>Gca	p.P168A	SEC16B_ENST00000464631.2_Missense_Mutation_p.P168A|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	168	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTTCCAAATGGACTGTGCTGG	0.448													False	0	False	1:177934213	0	C	177934213	G	C	177934213	3	2	90	1	0	0	0	0	1	0	0	0	14068	1174	41	5	2772	5	SEC16B	1	177934213	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	6854100	177934213	71316408	29	28675											
TROVE2	6738	broad.mit.edu	37	chr1	193045721	193045722	+	Frame_Shift_Ins	INS	-	-	TTAAGGGAAAATAAATCAGTATAACATACCTATATAAAAAAAT													ttcagtacttgaaccaggaaINSattcagaagtatctttagta							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:193045721_193045722insTTAAGGGAAAATAAATCAGTATAACATACCTATATAAAAAAAT	ENST00000367445.3	+	4	1079_1080	c.892_893insTTAAGGGAAAATAAATCAGTATAACATACCTATATAAAAAAAT	c.(892-894)aatfs	p.N298fs	TROVE2_ENST00000367441.1_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000367444.3_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000416058.2_Frame_Shift_Ins_p.N23fs|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367446.3_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000367443.1_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000400968.2_Frame_Shift_Ins_p.N298fs|TROVE2_ENST00000432079.1_Frame_Shift_Ins_p.N23fs	NM_001042370.2	NP_001035829.2	P10155	RO60_HUMAN	TROVE domain family, member 2	298	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TGAACCAGGAAATTCAGAAGTA	0.322													False	0	True	1:193045721	0	TTAAGGGAAAATAAATCAGTATAACATACCTATATAAAAAAAT	193045722	-	TTAAGGGAAAATAAATCAGTATAACATACCTATATAAAAAAAT	193045721	7	5	90	1	0	1	1	0	0	0	0	0	16659	14	1	0	902	0	TROVE2	1	193045721	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	15111508	193045721	56204900	30	28676											
ASPM	259266	broad.mit.edu	37	chr1	197091099	197091100	+	Frame_Shift_Ins	INS	-	-	GCATTATTAAGATAAATTT													ttctccatgttgtttgtatgINSagtcgagcagctcttatttc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:197091099_197091100insGCATTATTAAGATAAATTT	ENST00000367409.4	-	16	4071_4072	c.3815_3816insAAATTTATCTTAATAATGC	c.(3814-3816)ctcfs	p.-1272fs	ASPM_ENST00000294732.7_Frame_Shift_Ins_p.-1272fs|ASPM_ENST00000367408.1_Frame_Shift_Ins_p.-522fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)						mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTTTGTATGAGTCGAGCAGC	0.322													False	0	False	1:197091099	0	GCATTATTAAGATAAATTT	197091100	-	GCATTATTAAGATAAATTT	197091099	7	5	90	1	0	1	1	0	0	0	0	0	1060	1277	45	0	6669	0	ASPM	1	197091099	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	4045378	197091099	52159522	31	28677											
NR5A2	2494	broad.mit.edu	37	chr1	200080441	200080442	+	Frame_Shift_Ins	INS	-	-	AAGCACA													atccatcttcctggttactgINSggcaacaagtgagtgtagag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:200080441_200080442insAAGCACA	ENST00000367362.3	+	6	1468_1469	c.1222_1223insAAGCACA	c.(1222-1224)gggfs	p.G408fs	NR5A2_ENST00000236914.3_Frame_Shift_Ins_p.G362fs|NR5A2_ENST00000544748.1_Frame_Shift_Ins_p.G336fs	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	408					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTGGTTACTGGGCAACAAGTG	0.416													False	0	True	1:200080441	0	AAGCACA	200080442	-	AAGCACA	200080441	7	5	90	1	0	1	1	0	0	0	0	0	10704	1348	47	0	1244	0	NR5A2	1	200080441	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2989342	200080441	49170180	32	28678											
TPO	7173	broad.mit.edu	37	chr2	1497799	1497799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagatgaaggctctgcGggacggtgactggtacgttc	16	8	1	3	rs140124953		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:1497799G>A	ENST00000345913.4	+	11	2085	c.1994G>A	c.(1993-1995)cGg>cAg	p.R665Q	TPO_ENST00000382201.3_Missense_Mutation_p.R608Q|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000329066.4_Missense_Mutation_p.R665Q|TPO_ENST00000346956.3_Missense_Mutation_p.R665Q|TPO_ENST00000337415.3_Missense_Mutation_p.R665Q|TPO_ENST00000349624.3_Missense_Mutation_p.R492Q|TPO_ENST00000382198.1_Missense_Mutation_p.R492Q	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	665			R -> W (in TDH2A; fails to localize to the plasma membrane).		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AAGGCTCTGCGGGACGGTGAC	0.577													False	0	True	2:1497799	0	A	1497799	G	A	1497799	3	1	90	1	0	0	0	0	1	0	0	0	16493	1116	39	1	2032	1	TPO	2	1497799	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08		1497799	241701574	33	28679											
KIDINS220	57498	broad.mit.edu	37	chr2	8888131	8888132	+	Splice_Site	INS	-	-	CTAGTAAGTA													ggtatggggcaaagaatggcINStatggaaaaacatgtaacaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:8888131_8888132insCTAGTAAGTA	ENST00000256707.3	-	25	3596		c.e25-1		KIDINS220_ENST00000473731.1_Splice_Site|KIDINS220_ENST00000427284.1_Splice_Site|KIDINS220_ENST00000418530.1_Intron	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa						activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAAAGAATGGCTATGGAAAAAC	0.386													False	0	False	2:8888131	0	CTAGTAAGTA	8888132	-	CTAGTAAGTA	8888131	8	5	90	1	0	1	1	0	0	0	1	0	8321	811	28	0	1925	0	KIDINS220	2	8888131	Splice_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	7390332	8888131	234311242	34	28680											
TTC7A	57217	broad.mit.edu	37	chr2	47221577	47221578	+	In_Frame_Ins	INS	-	-	TGG													ccccctgtcccaccctctgcINSctgagttcatgggcaaggag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:47221577_47221578insTGG	ENST00000319190.5	+	7	1293_1294	c.925_926insTGG	c.(925-927)cct>cTGGct	p.309_309P>LA	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_In_Frame_Ins_p.275_275P>LA|TTC7A_ENST00000394850.2_In_Frame_Ins_p.309_309P>LA|TTC7A_ENST00000263737.6_Intron	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	309							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCACCCTCTGCCTGAGTTCATG	0.614													False	0	False	2:47221577	0	TGG	47221578	-	TGG	47221577	7	5	90	1	0	1	1	0	0	0	0	0	16796	739	26	0	951	0	TTC7A	2	47221577	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	38333446	47221577	195977796	35	28681											
STON1-GTF2A1L	0	broad.mit.edu	37	chr2	48873884	48873884	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggaaatgagcataaaatCgtgcctgaagctttgttgtg	11	7	0	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:48873884C>T	ENST00000394754.1	+	8	2907	c.2793C>T	c.(2791-2793)atC>atT	p.I931I	GTF2A1L_ENST00000430487.2_Silent_p.I193I|STON1-GTF2A1L_ENST00000309827.2_Silent_p.I931I|STON1-GTF2A1L_ENST00000402114.2_Silent_p.I931I|STON1-GTF2A1L_ENST00000394751.3_Silent_p.I884I|STON1-GTF2A1L_ENST00000405008.1_Silent_p.I931I|GTF2A1L_ENST00000403751.3_Silent_p.I227I|LHCGR_ENST00000420913.3_Intron	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		884					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCATAAAATCGTGCCTGAAG	0.413													False	0	False	2:48873884	0	T	48873884	C	T	48873884	2	4	90	1	0	0	0	0	0	0	0	1	15399	874	31	1		1	STON1-GTF2A1L	2	48873884	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	1652307	48873884	194325489	36	28682											
GPR75	10936	broad.mit.edu	37	chr2	54081026	54081027	+	In_Frame_Ins	INS	-	-	ATATTTTTCAAGTCA													accagttggttgggactcttINSggtatatccacgggtctgaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:54081026_54081027insATATTTTTCAAGTCA	ENST00000394705.2	-	2	1137_1138	c.867_868insTGACTTGAAAAATAT	c.(865-870)accaag>accTGACTTGAAAAATATaag	p.289_290TK>T*LEKYK	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	289						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGGGACTCTTGGTATATCCAC	0.554													False	0	False	2:54081026	0	ATATTTTTCAAGTCA	54081027	-	ATATTTTTCAAGTCA	54081026	7	5	90	1	0	1	1	0	0	0	0	0	6754	1821	63	0	758	0	GPR75	2	54081026	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	5207142	54081026	189118347	37	28683											
USP34	9736	broad.mit.edu	37	chr2	61431719	61431720	+	In_Frame_Ins	INS	-	-	GTATTTATCTAGCACAGTACTTCAATATGGTTCGCATTT													tcatggggactcaaaagtacINSaagttccttgaggacatctg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:61431719_61431720insGTATTTATCTAGCACAGTACTTCAATATGGTTCGCATTT	ENST00000398571.2	-	73	9247_9248	c.9171_9172insAAATGCGAACCATATTGAAGTACTGTGCTAGATAAATAC	c.(9169-9174)cttgta>cttAAATGCGAACCATATTGAAGTACTGTGCTAGATAAATACgta	p.3057_3058LV>LKCEPY*STVLDKYV		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3057					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTCAAAAGTACAAGTTCCTTGA	0.342													False	0	False	2:61431719	0	GTATTTATCTAGCACAGTACTTCAATATGGTTCGCATTT	61431720	-	GTATTTATCTAGCACAGTACTTCAATATGGTTCGCATTT	61431719	7	5	90	1	0	1	1	0	0	0	0	0	17149	478	17	0	1500	0	USP34	2	61431719	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	7350693	61431719	181767654	38	28684											
HK2	3099	broad.mit.edu	37	chr2	75100471	75100472	+	In_Frame_Ins	INS	-	-	GGGTAA													gcagagacgttgtggctctgINSatccggaaggccatccagag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:75100471_75100472insGGGTAA	ENST00000409174.1	+	5	670_671	c.480_481insGGGTAA	c.(481-483)atc>GGGTAAatc	p.160_161insG*	HK2_ENST00000290573.2_In_Frame_Ins_p.188_189insG*			P52789	HXK2_HUMAN	hexokinase 2	188	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTGTGGCTCTGATCCGGAAGGC	0.55													False	0	False	2:75100471	0	GGGTAA	75100472	-	GGGTAA	75100471	7	5	90	1	0	1	1	0	0	0	0	0	7238	1277	45	0	582	0	HK2	2	75100471	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	13668752	75100471	168098902	39	28685											
BUB1	699	broad.mit.edu	37	chr2	111395627	111395628	+	In_Frame_Ins	INS	-	-	ATAAATCCCATGGAATATTTCCATGTAACT													ttagtatagtgttgttgaaaINStactttcttcagcttttgcc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:111395627_111395628insATAAATCCCATGGAATATTTCCATGTAACT	ENST00000302759.6	-	25	3289_3290	c.3171_3172insAGTTACATGGAAATATTCCATGGGATTTAT	c.(3169-3174)gtattt>gtaAGTTACATGGAAATATTCCATGGGATTTATttt	p.1057_1058VF>VSYMEIFHGIYF	BUB1_ENST00000409311.1_In_Frame_Ins_p.1000_1001VF>VSYMEIFHGIYF|BUB1_ENST00000535254.1_In_Frame_Ins_p.1037_1038VF>VSYMEIFHGIYF	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	1057	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGTTGTTGAAATACTTTCTTCA	0.322													False	0	True	2:111395627	0	ATAAATCCCATGGAATATTTCCATGTAACT	111395628	-	ATAAATCCCATGGAATATTTCCATGTAACT	111395627	7	5	90	1	0	1	1	0	0	0	0	0	1577	101	4	0	89	0	BUB1	2	111395627	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	36295156	111395627	131803746	40	28686											
ANAPC1	64682	broad.mit.edu	37	chr2	112614257	112614258	+	Splice_Site	INS	-	-	T													ccagcatggtgtctattttcINStaaaaaaacaaaaaagacaa					rs4067742		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:112614257_112614258insT	ENST00000341068.3	-	13	2222		c.e13-1			NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361													False	1	True	2:112614257	0	T	112614258	-	T	112614257	8	5	90	1	0	1	1	0	0	0	1	0	598	927	32	0	4529	0	ANAPC1	2	112614257	Splice_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	1218630	112614257	130585116	41	28687											
TTL	150465	broad.mit.edu	37	chr2	113260636	113260637	+	In_Frame_Ins	INS	-	-	TTTCTGCATATTATATAC													ttcaaaaagagtattcaaagINSaactacgggaagtatgaaga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:113260636_113260637insTTTCTGCATATTATATAC	ENST00000233336.5	+	5	944_945	c.753_754insTTTCTGCATATTATATAC	c.(754-756)aac>TTTCTGCATATTATATACaac	p.251_252insFLHIIY		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	251	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGTATTCAAAGAACTACGGGAA	0.376			T	ETV6	ALL								False	0	False	2:113260636	0	TTTCTGCATATTATATAC	113260637	-	TTTCTGCATATTATATAC	113260636	7	5	90	1	0	1	1	0	0	0	0	0	16805	933	33	0	771	0	TTL	2	113260636	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	646379	113260636	129938737	42	28688											
UGGT1	56886	broad.mit.edu	37	chr2	128903497	128903498	+	Frame_Shift_Ins	INS	-	-	TTTTTCTT													agaaaccatcacaatgcataINSaaatcctggagaccaccacc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:128903497_128903498insTTTTTCTT	ENST00000259253.6	+	18	2019_2020	c.1972_1973insTTTTTCTT	c.(1972-1974)aaafs	p.K658fs	UGGT1_ENST00000375990.3_Frame_Shift_Ins_p.K634fs	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	658					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CACAATGCATAAAATCCTGGAG	0.446													False	0	True	2:128903497	0	TTTTTCTT	128903498	-	TTTTTCTT	128903497	7	5	90	1	0	1	1	0	0	0	0	0	17025	363	13	0	2042	0	UGGT1	2	128903497	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	15642861	128903497	114295876	43	28689	299	2									
UGGT1	56886	broad.mit.edu	37	chr2	128903498	128903499	+	In_Frame_Ins	INS	-	-	CATGCCTGTTCTAACAAC													gaaaccatcacaatgcataaINSaatcctggagaccaccacct							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:128903498_128903499insCATGCCTGTTCTAACAAC	ENST00000259253.6	+	18	2020_2021	c.1973_1974insCATGCCTGTTCTAACAAC	c.(1972-1977)aaaatc>aaCATGCCTGTTCTAACAACaatc	p.658_658K>NMPVLTT	UGGT1_ENST00000375990.3_In_Frame_Ins_p.634_634K>NMPVLTT	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	658					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.K658N(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACAATGCATAAAATCCTGGAGA	0.441													False	0	True	2:128903498	0	CATGCCTGTTCTAACAAC	128903499	-	CATGCCTGTTCTAACAAC	128903498	7	5	90	1	0	1	1	0	0	0	0	0	17025	14	1	0	2043	0	UGGT1	2	128903498	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1	128903498	114295875	44	28690	299	2									
SMPD4	55627	broad.mit.edu	37	chr2	130921950	130921950	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaaactgaaaacataccttGgcatgaggggactgcatttt	9	7	0	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:130921950G>C	ENST00000452225.2	-	4	357	c.119C>G	c.(118-120)cCa>cGa	p.P40R	SMPD4_ENST00000443958.2_Silent_p.A19A|SMPD4_ENST00000409031.1_Silent_p.A326A|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000426662.2_Missense_Mutation_p.P40R|SMPD4_ENST00000339679.7_Silent_p.A213A|SMPD4_ENST00000453750.1_Silent_p.A104A|SMPD4_ENST00000351288.6_Silent_p.A326A|SMPD4_ENST00000431183.2_Silent_p.A253A			Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	0					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AACATACCTTGGCATGAGGGG	0.448													False	0	False	2:130921950	0	C	130921950	G	C	130921950	3	2	90	1	0	0	0	0	1	0	0	0	14887	1335	47	5	1666	5	SMPD4	2	130921950	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	2018452	130921950	112277423	45	28691											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135893285	135893286	+	Frame_Shift_Ins	INS	-	-	AAATAACATTTAT													gaaacagataaggaaaagggINSagaggtaggaaaatcttggg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:135893285_135893286insAAATAACATTTAT	ENST00000264158.8	+	17	1749_1750	c.1706_1707insAAATAACATTTAT	c.(1705-1710)ggagagfs	p.E570fs	RAB3GAP1_ENST00000442034.1_Frame_Shift_Ins_p.E570fs|RAB3GAP1_ENST00000539493.1_Frame_Shift_Ins_p.E526fs|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	570						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGGAAAAGGGAGAGGTAGGAA	0.406													False	0	True	2:135893285	0	AAATAACATTTAT	135893286	-	AAATAACATTTAT	135893285	7	5	90	1	0	1	1	0	0	0	0	0	13014	1174	41	0	1772	0	RAB3GAP1	2	135893285	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	4971335	135893285	107306088	46	28692											
FMNL2	114793	broad.mit.edu	37	chr2	153485033	153485034	+	Frame_Shift_Ins	INS	-	-	CACAA													gaactttgctgaaagcattcINSagatgctgactcctgtgagt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:153485033_153485034insCACAA	ENST00000475377.2	+	5	711_712	c.511_512insCACAA	c.(511-513)cagfs	p.-170fs	FMNL2_ENST00000288670.9_Frame_Shift_Ins_p.-795fs			Q96PY5	FMNL2_HUMAN	formin-like 2						actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TGAAAGCATTCAGATGCTGACT	0.455													False	0	False	2:153485033	0	CACAA	153485034	-	CACAA	153485033	7	5	90	1	0	1	1	0	0	0	0	0	5992	827	29	0	2456	0	FMNL2	2	153485033	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	17591748	153485033	89714340	47	28693											
HOXD8	3234	broad.mit.edu	37	chr2	176996307	176996308	+	Frame_Shift_Ins	INS	-	-	CT													aaaaggaagcccaagagctgINSgaggaagacagagccgaagg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:176996307_176996308insCT	ENST00000429017.1	+	3	492_493	c.288_289insCT	c.(289-291)gagfs	p.E97fs	HOXD8_ENST00000548663.1_Frame_Shift_Ins_p.E177fs|HOXD8_ENST00000544999.1_Frame_Shift_Ins_p.E280fs|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000313173.4_Frame_Shift_Ins_p.E281fs|HOXD8_ENST00000450510.2_Frame_Shift_Ins_p.E280fs	NM_001199747.1	NP_001186676.1	P13378	HXD8_HUMAN	homeobox D8	281					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCCAAGAGCTGGAGGAAGACAG	0.431													False	0	False	2:176996307	0	CT	176996308	-	CT	176996307	7	5	90	1	0	1	1	0	0	0	0	0	7372	1335	47	0	846	0	HOXD8	2	176996307	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	23511274	176996307	66203066	48	28694											
SESTD1	91404	broad.mit.edu	37	chr2	179977463	179977464	+	Frame_Shift_Ins	INS	-	-	ATGC													cccatacccatcaggataaaINSctactggaacagttaatcta							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:179977463_179977464insATGC	ENST00000428443.3	-	17	2264_2265	c.1948_1949insGCAT	c.(1948-1950)gttfs	p.V650fs		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	650					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCAGGATAAACTACTGGAACA	0.342													False	0	True	2:179977463	0	ATGC	179977464	-	ATGC	179977463	7	5	90	1	0	1	1	0	0	0	0	0	14208	43	2	0	149	0	SESTD1	2	179977463	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2981156	179977463	63221910	49	28695	300	2									
SESTD1	91404	broad.mit.edu	37	chr2	179977466	179977475	+	Frame_Shift_Del	DEL	ACTGGAACAG	ACTGGAACAG	-													catacccatcaggataaactActggaacagttaatctatcc					rs143992866		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	ACTGGAACAG	ACTGGAACAG	-	-	ACTGGAACAG	ACTGGAACAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:179977466_179977475delACTGGAACAG	ENST00000428443.3	-	17	2253_2262	c.1937_1946delCTGTTCCAGT	c.(1936-1947)actgttccagtafs	p.TVPV646fs		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	646					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGGATAAACTACTGGAACAGTTAATCTATC	0.338													False	1	False	2:179977466	0	-	179977475	ACTGGAACAG	-	179977466	7	5	90	1	0	1	0	1	0	0	0	0	14208	391	14	0	152	0	SESTD1	2	179977466	Frame_Shift_Del	DEL	ACTGGAACAG	TCGA-IB-7885-01A-11D-2154-08	3	179977466	63221907	50	28696	300	2									
SSFA2	6744	broad.mit.edu	37	chr2	182780429	182780430	+	Frame_Shift_Ins	INS	-	-	CTTCAGTAAT													aactgggcctccctcttccaINStggacagagttaatacagct					rs147898134		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:182780429_182780430insCTTCAGTAAT	ENST00000409136.1	+	3	701_702	c.589_590insCTTCAGTAAT	c.(589-591)atgfs	p.M197fs	SSFA2_ENST00000431877.2_Frame_Shift_Ins_p.M688fs|SSFA2_ENST00000320370.7_Frame_Shift_Ins_p.M688fs|SSFA2_ENST00000428267.2_Frame_Shift_Ins_p.M535fs|SSFA2_ENST00000409001.1_Frame_Shift_Ins_p.M688fs			P28290	SSFA2_HUMAN	sperm specific antigen 2	688						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCCCTCTTCCATGGACAGAGTT	0.401													False	0	False	2:182780429	0	CTTCAGTAAT	182780430	-	CTTCAGTAAT	182780429	7	5	90	1	0	1	1	0	0	0	0	0	15265	217	8	0	2104	0	SSFA2	2	182780429	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2802963	182780429	60418944	51	28697											
NCKAP1	10787	broad.mit.edu	37	chr2	183829513	183829514	+	Frame_Shift_Ins	INS	-	-	CTATGCAGAATCAGAAAAGTGCTTGAACAGA													caaacactgttgaaacatctINStctcaaaagcacgactataa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:183829513_183829514insCTATGCAGAATCAGAAAAGTGCTTGAACAGA	ENST00000360982.2	-	18	2427_2428	c.1669_1670insTCTGTTCAAGCACTTTTCTGATTCTGCATAG	c.(1669-1671)aagfs	p.K557fs	NCKAP1_ENST00000361354.3_Frame_Shift_Ins_p.K551fs	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	551					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGAAACATCTTCTCAAAAGCA	0.307													False	0	False	2:183829513	0	CTATGCAGAATCAGAAAAGTGCTTGAACAGA	183829514	-	CTATGCAGAATCAGAAAAGTGCTTGAACAGA	183829513	7	5	90	1	0	1	1	0	0	0	0	0	10289	1609	56	0	1794	0	NCKAP1	2	183829513	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1049084	183829513	59369860	52	28698											
DNAH7	56171	broad.mit.edu	37	chr2	196762481	196762482	+	Frame_Shift_Ins	INS	-	-	GTGTGTT													tttcttcattttcatttggaINStatttcagctaaaaaaaaaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:196762481_196762482insGTGTGTT	ENST00000312428.6	-	29	4656_4657	c.4556_4557insAACACAC	c.(4555-4557)tatfs	p.Y1519fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1519					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCATTTGGATATTTCAGCTA	0.351													False	0	False	2:196762481	0	GTGTGTT	196762482	-	GTGTGTT	196762481	7	5	90	1	0	1	1	0	0	0	0	0	4636	340	12	0	7665	0	DNAH7	2	196762481	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	12932968	196762481	46436892	53	28699											
PARD3B	117583	broad.mit.edu	37	chr2	205829959	205829959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatcggcagagcccagatGcttttgagacagaagtggcc	13	10	0	5			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:205829959G>A	ENST00000406610.2	+	3	514	c.307G>A	c.(307-309)Gct>Act	p.A103T	PARD3B_ENST00000351153.1_Missense_Mutation_p.A103T|PARD3B_ENST00000358768.2_Missense_Mutation_p.A103T|PARD3B_ENST00000349953.3_Missense_Mutation_p.A103T|PARD3B_ENST00000462231.1_Missense_Mutation_p.A103T	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	103					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GAGCCCAGATGCTTTTGAGAC	0.478													False	0	False	2:205829959	0	A	205829959	G	A	205829959	3	1	90	1	0	0	0	0	1	0	0	0	11512	1319	46	2	317	2	PARD3B	2	205829959	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	9067478	205829959	37369414	54	28700											
FBLN2	2199	broad.mit.edu	37	chr3	13612273	13612273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcggccaggtgggctgcGtccacgcgggccacaagtac	16	13	0	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:13612273G>A	ENST00000404922.3	+	2	537	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	FBLN2_ENST00000295760.7_Missense_Mutation_p.V140I|FBLN2_ENST00000492059.1_Missense_Mutation_p.V140I|FBLN2_ENST00000535798.1_Missense_Mutation_p.V166I	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	140	N.|Subdomain NA (Cys-rich).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGTGGGCTGCGTCCACGCGGG	0.677													False	0	False	3:13612273	0	A	13612273	G	A	13612273	3	1	90	1	0	0	0	0	1	0	0	0	5739	1145	40	1		1	FBLN2	3	13612273	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08		13612273	184410157	55	28701											
TGFBR2	7048	broad.mit.edu	37	chr3	30686373	30686373	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgcagcatcacctccatcTgtgagaagccacaggaagtc	9	13	2	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:30686373T>A	ENST00000295754.5	+	2	611	c.229T>A	c.(229-231)Tgt>Agt	p.C77S	TGFBR2_ENST00000359013.4_Missense_Mutation_p.C102S	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	77					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CACCTCCATCTGTGAGAAGCC	0.408													False	0	False	3:30686373	0	A	30686373	T	A	30686373	3	1	90	1	0	0	0	0	1	0	0	0	15904	1580	55	5	314	5	TGFBR2	3	30686373	Missense_Mutation	SNP	T	TCGA-IB-7885-01A-11D-2154-08	17074100	30686373	167336057	56	28702											
GOLGA4	2803	broad.mit.edu	37	chr3	37367172	37367173	+	Frame_Shift_Ins	INS	-	-	CTTTTTTCATGTGAAG													aagttaaggaggcactgttaINSattaaaacttgcacagtttc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:37367172_37367173insCTTTTTTCATGTGAAG	ENST00000361924.2	+	14	4169_4170	c.3795_3796insCTTTTTTCATGTGAAG	c.(3796-3798)attfs	p.I1266fs	GOLGA4_ENST00000356847.4_Frame_Shift_Ins_p.I1288fs|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1266	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGCACTGTTAATTAAAACTTG	0.347													False	0	True	3:37367172	0	CTTTTTTCATGTGAAG	37367173	-	CTTTTTTCATGTGAAG	37367172	7	5	90	1	0	1	1	0	0	0	0	0	6600	359	13	0	3919	0	GOLGA4	3	37367172	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	6680799	37367172	160655258	57	28703											
ZNF660	285349	broad.mit.edu	37	chr3	44636431	44636432	+	Frame_Shift_Ins	INS	-	-	ACTTTTTTTCC													gagaaaccttacaaatgtaaINStgagtgtgggaaggctttta							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:44636431_44636432insACTTTTTTTCC	ENST00000322734.2	+	3	1079_1080	c.746_747insACTTTTTTTCC	c.(745-750)aatgagfs	p.NE249fs	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TACAAATGTAATGAGTGTGGGA	0.371													False	0	False	3:44636431	0	ACTTTTTTTCC	44636432	-	ACTTTTTTTCC	44636431	7	5	90	1	0	1	1	0	0	0	0	0	18153	101	4	0	748	0	ZNF660	3	44636431	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	7269259	44636431	153385999	58	28704											
MST1R	4486	broad.mit.edu	37	chr3	49933830	49933831	+	In_Frame_Ins	INS	-	-	ATTAAG													ctgctgctctggaagctgccINStctcacactgctgggaccaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:49933830_49933831insATTAAG	ENST00000296474.3	-	10	2473_2474	c.2446_2447insCTTAAT	c.(2446-2448)agg>aCTTAATgg	p.816_816R>T*W	MST1R_ENST00000344206.4_In_Frame_Ins_p.816_816R>T*W	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	816	IPT/TIG 3.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGAAGCTGCCTCTCACACTGC	0.609													False	0	False	3:49933830	0	ATTAAG	49933831	-	ATTAAG	49933830	7	5	90	1	0	1	1	0	0	0	0	0	9958	681	24	0	1799	0	MST1R	3	49933830	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	5297399	49933830	148088600	59	28705											
ALAS1	211	broad.mit.edu	37	chr3	52242229	52242230	+	In_Frame_Ins	INS	-	-	AGAACAACGTAAACTTCT													ttggggatcgggatggagtcINSatgccaaaaatggacatcat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:52242229_52242230insAGAACAACGTAAACTTCT	ENST00000394965.2	+	9	1656_1657	c.1296_1297insAGAACAACGTAAACTTCT	c.(1297-1299)atg>AGAACAACGTAAACTTCTatg	p.432_433insRTT*TS	ALAS1_ENST00000469224.1_In_Frame_Ins_p.432_433insRTT*TS|ALAS1_ENST00000484952.1_In_Frame_Ins_p.432_433insRTT*TS|ALAS1_ENST00000310271.2_In_Frame_Ins_p.432_433insRTT*TS	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	432					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGGATGGAGTCATGCCAAAAAT	0.47													False	0	False	3:52242229	0	AGAACAACGTAAACTTCT	52242230	-	AGAACAACGTAAACTTCT	52242229	7	5	90	1	0	1	1	0	0	0	0	0	484	813	29	0	1322	0	ALAS1	3	52242229	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2308399	52242229	145780201	60	28706											
CCDC80	151887	broad.mit.edu	37	chr3	112324416	112324417	+	Frame_Shift_Ins	INS	-	-	CCTTT													tgctgaatcgccatttcctgINStctccgaagttgcatcgaat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:112324416_112324417insCCTTT	ENST00000206423.3	-	8	3653_3654	c.2700_2701insAAAGG	c.(2698-2703)agacagfs	p.Q901fs	CCDC80_ENST00000439685.2_Frame_Shift_Ins_p.Q901fs	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	901										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GCCATTTCCTGTCTCCGAAGTT	0.465													False	0	False	3:112324416	0	CCTTT	112324417	-	CCTTT	112324416	7	5	90	1	0	1	1	0	0	0	0	0	2875	1386	48	0	155	0	CCDC80	3	112324416	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	60082187	112324416	85698014	61	28707											
GOLGB1	2804	broad.mit.edu	37	chr3	121433821	121433822	+	Frame_Shift_Ins	INS	-	-	TACTTCGGTGCTCTAATGAGGATTT													ttggatttttgctggagctgINSatctaaggaaaagaaaaaaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:121433821_121433822insTACTTCGGTGCTCTAATGAGGATTT	ENST00000393667.3	-	10	1400_1401	c.1290_1291insAAATCCTCATTAGAGCACCGAAGTA	c.(1288-1293)gatcagfs	p.Q431fs	GOLGB1_ENST00000340645.5_Frame_Shift_Ins_p.Q426fs	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	426					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCTGGAGCTGATCTAAGGAAA	0.307													False	0	False	3:121433821	0	TACTTCGGTGCTCTAATGAGGATTT	121433822	-	TACTTCGGTGCTCTAATGAGGATTT	121433821	7	5	90	1	0	1	1	0	0	0	0	0	6610	1299	45	0	8555	0	GOLGB1	3	121433821	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	9109405	121433821	76588609	62	28708											
MGLL	11343	broad.mit.edu	37	chr3	127454654	127454655	+	Frame_Shift_Ins	INS	-	-	CTTTTTTATTTTAT													taaattctggcattctcttgINSgtgctcgcatccttccaggg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:127454654_127454655insCTTTTTTATTTTAT	ENST00000398101.3	-	1	545_546	c.47_48insATAAAATAAAAAAG	c.(46-48)accfs	p.-16fs	MGLL_ENST00000265052.5_Intron|MGLL_ENST00000453507.2_Intron|MGLL_ENST00000398104.1_Intron|MGLL_ENST00000434178.2_Intron			Q99685	MGLL_HUMAN	monoglyceride lipase						arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GCATTCTCTTGGTGCTCGCATC	0.495													False	0	False	3:127454654	0	CTTTTTTATTTTAT	127454655	-	CTTTTTTATTTTAT	127454654	7	5	90	1	0	1	1	0	0	0	0	0	9623	1363	47	0		0	MGLL	3	127454654	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	6020833	127454654	70567776	63	28709											
RSRC1	51319	broad.mit.edu	37	chr3	157921019	157921020	+	In_Frame_Ins	INS	-	-	GTAAGCAGATTT													gggaaggacaaggaattacaINStaacatcaaacgtgggtaag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:157921019_157921020insGTAAGCAGATTT	ENST00000295930.3	+	4	641_642	c.479_480insGTAAGCAGATTT	c.(478-483)cataac>caGTAAGCAGATTTtaac	p.160_160H>Q*ADF	RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000475278.2_In_Frame_Ins_p.160_160H>Q*ADF|RSRC1_ENST00000480820.1_In_Frame_Ins_p.160_160H>Q*ADF	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	160					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			aaggaATTACATAACATCAAAC	0.411													False	0	False	3:157921019	0	GTAAGCAGATTT	157921020	-	GTAAGCAGATTT	157921019	7	5	90	1	0	1	1	0	0	0	0	0	13793	217	8	0	489	0	RSRC1	3	157921019	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	30466365	157921019	40101411	64	28710											
MFN1	55669	broad.mit.edu	37	chr3	179076778	179076779	+	Frame_Shift_Ins	INS	-	-	CAAAACAT													cagaaggatcagatgaaaaaINSaagagtgtgaaggtatgatc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:179076778_179076779insCAAAACAT	ENST00000471841.1	+	4	525_526	c.399_400insCAAAACAT	c.(400-402)aagfs	p.K134fs	MFN1_ENST00000280653.7_Frame_Shift_Ins_p.K134fs|MFN1_ENST00000263969.5_Frame_Shift_Ins_p.K134fs	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	134					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CAGATGAAAAAAAGAGTGTGAA	0.347													False	0	True	3:179076778	0	CAAAACAT	179076779	-	CAAAACAT	179076778	7	5	90	1	0	1	1	0	0	0	0	0	9590	11	1	0	409	0	MFN1	3	179076778	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	21155759	179076778	18945652	65	28711											
PSMD2	5708	broad.mit.edu	37	chr3	184020606	184020607	+	Frame_Shift_Ins	INS	-	-	TTTATGCAAGT													caacttcttggccttagctcINSgggaggtgagactgcccttt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:184020606_184020607insTTTATGCAAGT	ENST00000310118.4	+	7	1561_1562	c.1003_1004insTTTATGCAAGT	c.(1003-1005)cggfs	p.R335fs	PSMD2_ENST00000439383.1_Frame_Shift_Ins_p.R205fs|PSMD2_ENST00000435761.1_Frame_Shift_Ins_p.R176fs|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	335					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GGCCTTAGCTCGGGAGGTGAGA	0.485													False	0	True	3:184020606	0	TTTATGCAAGT	184020607	-	TTTATGCAAGT	184020606	7	5	90	1	0	1	1	0	0	0	0	0	12774	875	31	0	1029	0	PSMD2	3	184020606	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	4943828	184020606	14001824	66	28712											
MUC4	4585	broad.mit.edu	37	chr3	195517983	195517984	+	Frame_Shift_Ins	INS	-	-	TTCTCTCCAA													tagaactttcagttcctgctINSgttgatgtctcttctgtgtt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:195517983_195517984insTTCTCTCCAA	ENST00000463781.3	-	2	926_927	c.467_468insTTGGAGAGAA	c.(466-468)acafs	p.-156fs	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Ins_p.-156fs	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated						cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGTTCCTGCTGTTGATGTCTC	0.465													False	0	False	3:195517983	0	TTCTCTCCAA	195517984	-	TTCTCTCCAA	195517983	7	5	90	1	0	1	1	0	0	0	0	0	10045	1567	55	0		0	MUC4	3	195517983	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	11497377	195517983	2504447	67	28713											
TLR1	7096	broad.mit.edu	37	chr4	38798452	38798453	+	Frame_Shift_Ins	INS	-	-	AT													caaagtttctctcatgaaggINScaaatctgcataccttcttt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:38798452_38798453insAT	ENST00000502213.2	-	3	2229_2230	c.2000_2001insAT	c.(1999-2001)tgcfs	p.C667fs	TLR1_ENST00000308979.2_Frame_Shift_Ins_p.C667fs			Q15399	TLR1_HUMAN	toll-like receptor 1	667	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TCTCATGAAGGCAAATCTGCAT	0.386													False	0	True	4:38798452	0	AT	38798453	-	AT	38798452	7	5	90	1	0	1	1	0	0	0	0	0	16031	1195	42	0	363	0	TLR1	4	38798452	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		38798452	152355824	68	28714											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	90	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-IB-7885-01A-11D-2154-08	1636253	40434705	150719571	69	28715											
SLC30A9	10463	broad.mit.edu	37	chr4	42003781	42003782	+	In_Frame_Ins	INS	-	-	TATATACTTTAATTT													cactcagagtggaaaaagtaINSccatcatttgaaacaggtat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:42003781_42003782insTATATACTTTAATTT	ENST00000264451.6	+	2	438_439	c.258_259insTATATACTTTAATTT	c.(259-261)cca>TATATACTTTAATTTcca	p.86_87insYIL*F		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	86					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGAAAAAGTACCATCATTTGA	0.337													False	0	False	4:42003781	0	TATATACTTTAATTT	42003782	-	TATATACTTTAATTT	42003781	7	5	90	1	0	1	1	0	0	0	0	0	14642	378	14	0	264	0	SLC30A9	4	42003781	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1569076	42003781	149150495	70	28716											
UGT2B10	7365	broad.mit.edu	37	chr4	69681925	69681926	+	Frame_Shift_Ins	INS	-	-	CCAGTCACTGTTTCTTTCTCATACTTATA													tcttcagcttccattcttttINStgatcccaacgactcatcca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:69681925_69681926insCCAGTCACTGTTTCTTTCTCATACTTATA	ENST00000265403.7	+	1	215_216	c.188_189insCCAGTCACTGTTTCTTTCTCATACTTATA	c.(187-192)tttgatfs	p.D64fs	UGT2B10_ENST00000458688.2_Frame_Shift_Ins_p.D64fs	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	64					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCCATTCTTTTTGATCCCAACG	0.371													False	0	True	4:69681925	0	CCAGTCACTGTTTCTTTCTCATACTTATA	69681926	-	CCAGTCACTGTTTCTTTCTCATACTTATA	69681925	7	5	90	1	0	1	1	0	0	0	0	0	17040	1841	64	0	190	0	UGT2B10	4	69681925	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	27678144	69681925	121472351	71	28717											
AFF1	4299	broad.mit.edu	37	chr4	87967962	87967963	+	In_Frame_Ins	INS	-	-	AAAAGGAGAATT													cgcctggatgcttctgaaaaINStaggttgggaaagccgaaat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:87967962_87967963insAAAAGGAGAATT	ENST00000307808.6	+	3	674_675	c.254_255insAAAAGGAGAATT	c.(253-258)aatagg>aaAAAAGGAGAATTtagg	p.85_85N>KKGEF	AFF1_ENST00000395146.4_In_Frame_Ins_p.92_92N>KKGEF|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	85						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCTTCTGAAAATAGGTTGGGAA	0.46													False	0	True	4:87967962	0	AAAAGGAGAATT	87967963	-	AAAAGGAGAATT	87967962	7	5	90	1	0	1	1	0	0	0	0	0	356	101	4	0	306	0	AFF1	4	87967962	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	18286037	87967962	103186314	72	28718											
DSPP	1834	broad.mit.edu	37	chr4	88535457	88535458	+	Frame_Shift_Ins	INS	-	-	GTTATAAGAAGCATCTCCTCGGCTAC													agtggcaaaggtaaatcagaINStagcagtgacagtgatagta							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:88535457_88535458insGTTATAAGAAGCATCTCCTCGGCTAC	ENST00000282478.7	+	4	1676_1677	c.1643_1644insGTTATAAGAAGCATCTCCTCGGCTAC	c.(1642-1647)gatagcfs	p.DS548fs	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Frame_Shift_Ins_p.DS548fs			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	548	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GGTAAATCAgatagcagtgaca	0.411													False	0	False	4:88535457	0	GTTATAAGAAGCATCTCCTCGGCTAC	88535458	-	GTTATAAGAAGCATCTCCTCGGCTAC	88535457	7	5	90	1	0	1	1	0	0	0	0	0	4812	333	12	0	1657	0	DSPP	4	88535457	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	567495	88535457	102618819	73	28719											
PKD2	5311	broad.mit.edu	37	chr4	88996747	88996748	+	Frame_Shift_Ins	INS	-	-	AATCTGTA													gcacgccagtgggactaaatINSggtcaacctcgccccagaag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:88996747_88996748insAATCTGTA	ENST00000508588.1	+	10	1457_1458	c.1062_1063insAATCTGTA	c.(1063-1065)ggtfs	p.G355fs	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Frame_Shift_Ins_p.G355fs|PKD2_ENST00000237596.2_Frame_Shift_Ins_p.G937fs			Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	937						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TGGGACTAAATGGTCAACCTCG	0.52													False	0	False	4:88996747	0	AATCTGTA	88996748	-	AATCTGTA	88996747	7	5	90	1	0	1	1	0	0	0	0	0	12035	1461	51	0	2866	0	PKD2	4	88996747	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	461290	88996747	102157529	74	28720											
LEF1	51176	broad.mit.edu	37	chr4	108985512	108985513	+	Frame_Shift_Ins	INS	-	-	CTTTTAAAAA													tgatgcagattcctgtagttINStctctctcttcctcttcttt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:108985512_108985513insCTTTTAAAAA	ENST00000265165.1	-	10	1798_1799	c.1144_1145insTTTTTAAAAG	c.(1144-1146)aaafs	p.K382fs	LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000510624.1_Frame_Shift_Ins_p.K286fs|LEF1_ENST00000379951.2_Frame_Shift_Ins_p.K354fs|LEF1_ENST00000438313.2_Frame_Shift_Ins_p.K354fs	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	382					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TTCCTGTAGTTTCTCTCTCTTC	0.431													False	0	True	4:108985512	0	CTTTTAAAAA	108985513	-	CTTTTAAAAA	108985512	7	5	90	1	0	1	1	0	0	0	0	0	8765	1841	64	0	146	0	LEF1	4	108985512	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	19988765	108985512	82168764	75	28721											
EGF	1950	broad.mit.edu	37	chr4	110864539	110864540	+	In_Frame_Ins	INS	-	-	ACAACAAAATTA													aggaaataattcccacattcINSttttaagtgctttaaaatat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:110864539_110864540insACAACAAAATTA	ENST00000509793.1	+	3	909_910	c.457_458insACAACAAAATTA	c.(457-459)ctt>cACAACAAAATTAtt	p.153_153L>HNKII	EGF_ENST00000265171.5_In_Frame_Ins_p.153_153L>HNKII|EGF_ENST00000503392.1_In_Frame_Ins_p.153_153L>HNKII|EGF_ENST00000502723.1_3'UTR	NM_001178131.1	NP_001171602.1	P01133	EGF_HUMAN	epidermal growth factor	153					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTCCCACATTCTTTTAAGTGCT	0.307													False	0	True	4:110864539	0	ACAACAAAATTA	110864540	-	ACAACAAAATTA	110864539	7	5	90	1	0	1	1	0	0	0	0	0	4992	913	32	0	467	0	EGF	4	110864539	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1879027	110864539	80289737	76	28722											
USP53	54532	broad.mit.edu	37	chr4	120181068	120181069	+	In_Frame_Ins	INS	-	-	GAACTTAAAACTTTA													caaatacaacagatgactatINSaggaaatgtcctgtaagtat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:120181068_120181069insGAACTTAAAACTTTA	ENST00000274030.6	+	10	1842_1843	c.663_664insGAACTTAAAACTTTA	c.(664-666)agg>GAACTTAAAACTTTAagg	p.221_222insELKTL	USP53_ENST00000450251.1_In_Frame_Ins_p.221_222insELKTL	NM_019050.2	NP_061923.2	Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	221					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CAGATGACTATAGGAAATGTCC	0.322													False	0	False	4:120181068	0	GAACTTAAAACTTTA	120181069	-	GAACTTAAAACTTTA	120181068	7	5	90	1	0	1	1	0	0	0	0	0	17168	1413	49	0	685	0	USP53	4	120181068	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	9316529	120181068	70973208	77	28723											
FAT4	79633	broad.mit.edu	37	chr4	126398422	126398423	+	Frame_Shift_Ins	INS	-	-	A													ttttgttgggtgtataatggINSagtttgcagtcaatggaagg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:126398422_126398423insA	ENST00000394329.3	+	13	12419_12420	c.12406_12407insA	c.(12406-12408)gagfs	p.E4136fs	FAT4_ENST00000335110.5_Frame_Shift_Ins_p.E2399fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4136	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGTATAATGGAGTTTGCAGTC	0.431													False	1	False	4:126398422	0	A	126398423	-	A	126398422	7	5	90	1	0	1	1	0	0	0	0	0	5732	1175	41	0	12456	0	FAT4	4	126398422	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	6217354	126398422	64755854	78	28724	301	2									
FAT4	79633	broad.mit.edu	37	chr4	126398424	126398425	+	In_Frame_Ins	INS	-	-	ATATAAATATTAGTGTCAAAAGATTACATT													ttgttgggtgtataatggagINStttgcagtcaatggaaggcc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:126398424_126398425insATATAAATATTAGTGTCAAAAGATTACATT	ENST00000394329.3	+	13	12421_12422	c.12408_12409insATATAAATATTAGTGTCAAAAGATTACATT	c.(12409-12411)ttt>ATATAAATATTAGTGTCAAAAGATTACATTttt	p.4136_4137insI*ILVSKDYI	FAT4_ENST00000335110.5_In_Frame_Ins_p.2399_2400insI*ILVSKDYI	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4136	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTATAATGGAGTTTGCAGTCAA	0.426													False	0	True	4:126398424	0	ATATAAATATTAGTGTCAAAAGATTACATT	126398425	-	ATATAAATATTAGTGTCAAAAGATTACATT	126398424	7	5	90	1	0	1	1	0	0	0	0	0	5732	1020	36	0	12458	0	FAT4	4	126398424	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	126398424	64755852	79	28725	301	2									
C4orf33	132321	broad.mit.edu	37	chr4	130030728	130030729	+	Frame_Shift_Ins	INS	-	-	GGGCTTACACTTTAAA													ccaccaaatgtgacaaaattINScaattcatttgcaattcatg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:130030728_130030729insGGGCTTACACTTTAAA	ENST00000281146.4	+	5	1116_1117	c.395_396insGGGCTTACACTTTAAA	c.(394-399)ttcaatfs	p.FN132fs	C4orf33_ENST00000502887.1_Frame_Shift_Ins_p.FN132fs|C4orf33_ENST00000425929.1_Frame_Shift_Ins_p.FN132fs	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	132										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTGACAAAATTCAATTCATTTG	0.386													False	0	True	4:130030728	0	GGGCTTACACTTTAAA	130030729	-	GGGCTTACACTTTAAA	130030728	7	5	90	1	0	1	1	0	0	0	0	0	2280	1783	62	0	409	0	C4orf33	4	130030728	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	3632304	130030728	61123548	80	28726											
DCLK2	166614	broad.mit.edu	37	chr4	151168835	151168835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccccctactgggataacaTcacggactctgccaaggtac	10	14	2	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:151168835T>C	ENST00000296550.7	+	13	2613	c.1859T>C	c.(1858-1860)aTc>aCc	p.I620T	DCLK2_ENST00000506325.1_Missense_Mutation_p.I619T|DCLK2_ENST00000302176.8_Missense_Mutation_p.I637T	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	620	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGGATAACATCACGGACTCT	0.527													False	0	False	4:151168835	0	C	151168835	T	C	151168835	3	2	90	1	0	0	0	0	1	0	0	0	4317	1435	50	4	1909	4	DCLK2	4	151168835	Missense_Mutation	SNP	T	TCGA-IB-7885-01A-11D-2154-08	21138107	151168835	39985441	81	28727											
ETFDH	2110	broad.mit.edu	37	chr4	159603486	159603487	+	In_Frame_Ins	INS	-	-	TAAAAATTCTGG													gtgtgtgtctagtggagaaaINSgctgcccagataggagctca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:159603486_159603487insTAAAAATTCTGG	ENST00000307738.5	+	2	292_293	c.174_175insTAAAAATTCTGG	c.(175-177)gct>TAAAAATTCTGGgct	p.58_59ins*KFW	ETFDH_ENST00000511912.1_In_Frame_Ins_p.105_106ins*KFW			Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	105					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TAGTGGAGAAAGCTGCCCAGAT	0.495													False	0	True	4:159603486	0	TAAAAATTCTGG	159603487	-	TAAAAATTCTGG	159603486	7	5	90	1	0	1	1	0	0	0	0	0	5303	69	3	0	325	0	ETFDH	4	159603486	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	8434651	159603486	31550790	82	28728											
CLDN22	53842	broad.mit.edu	37	chr4	184240911	184240912	+	Frame_Shift_Ins	INS	-	-	CTGTTCA													ccacctggggacaaagtctgINSggacgttctcatcccagaac							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:184240911_184240912insCTGTTCA	ENST00000323319.5	-	1	1015_1016	c.460_461insTGAACAG	c.(460-462)ccafs	p.P154fs	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	154					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GACAAAGTCTGGGACGTTCTCA	0.594													False	0	True	4:184240911	0	CTGTTCA	184240912	-	CTGTTCA	184240911	7	5	90	1	0	1	1	0	0	0	0	0	3506	1348	47	0	205	0	CLDN22	4	184240911	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	24637425	184240911	6913365	83	28729											
LRP2BP	55805	broad.mit.edu	37	chr4	186299395	186299396	+	Translation_Start_Site	INS	-	-	CCTGATATTTAAGCTTCCCTTGGAAAACACTTTAACAGTTCA													aaaaaataagtggtagaaatINSttcttcctccagcgaagtgc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:186299395_186299396insCCTGATATTTAAGCTTCCCTTGGAAAACACTTTAACAGTTCA	ENST00000328559.7	-	0	756_757				LRP2BP_ENST00000362004.3_De_novo_Start_InFrame|LRP2BP_ENST00000510776.1_De_novo_Start_InFrame|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Intron	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein							cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GTGGTAGAAATTTCTTCCTCCA	0.416													False	0	True	4:186299395	0	CCTGATATTTAAGCTTCCCTTGGAAAACACTTTAACAGTTCA	186299396	-	CCTGATATTTAAGCTTCCCTTGGAAAACACTTTAACAGTTCA	186299395	6	5	90	1	0	1	1	0	0	0	0	0	9019	1508	52	0		0	LRP2BP	4	186299395	Translation_Start_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	2058484	186299395	4854881	84	28730											
MTNR1A	4543	broad.mit.edu	37	chr4	187455491	187455492	+	Frame_Shift_Ins	INS	-	-	TCCCCATGATCATAGTCATCTTCTGT													tgctgctgtacagtttgtcgINStacttgagactgtggcagat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:187455491_187455492insTCCCCATGATCATAGTCATCTTCTGT	ENST00000307161.5	-	2	605_606	c.404_405insACAGAAGATGACTATGATCATGGGGA	c.(403-405)tacfs	p.Y135fs	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	135					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ACAGTTTGTCGTACTTGAGACT	0.579													False	0	False	4:187455491	0	TCCCCATGATCATAGTCATCTTCTGT	187455492	-	TCCCCATGATCATAGTCATCTTCTGT	187455491	7	5	90	1	0	1	1	0	0	0	0	0	10018	1140	40	0	651	0	MTNR1A	4	187455491	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1156096	187455491	3698785	85	28731											
ADCY2	108	broad.mit.edu	37	chr5	7706988	7706989	+	In_Frame_Ins	INS	-	-	TTTTCCCAGTATTTTATTATT													catgatgtgaccttggccaaINSccacatggaagctggagggg					rs75986905	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:7706988_7706989insTTTTCCCAGTATTTTATTATT	ENST00000338316.4	+	8	1330_1331	c.1241_1242insTTTTCCCAGTATTTTATTATT	c.(1240-1245)aaccac>aaTTTTCCCAGTATTTTATTATTccac	p.414_415NH>NFPSILLFH	ADCY2_ENST00000537121.1_In_Frame_Ins_p.234_235NH>NFPSILLFH	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	414					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCTTGGCCAACCACATGGAAG	0.5													False	0	False	5:7706988	0	TTTTCCCAGTATTTTATTATT	7706989	-	TTTTCCCAGTATTTTATTATT	7706988	7	5	90	1	0	1	1	0	0	0	0	0	294	43	2	0	1271	0	ADCY2	5	7706988	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		7706988	173208272	86	28732											
TAS2R1	50834	broad.mit.edu	37	chr5	9629445	9629446	+	In_Frame_Ins	INS	-	-	TTCAAA													tgggagaagtagaggatcagINSgaaggacaggatagacagca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:9629445_9629446insTTCAAA	ENST00000382492.2	-	1	1017_1018	c.699_700insTTTGAA	c.(697-702)ttcctg>ttcTTTGAActg	p.233_234FL>FFEL	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	233					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TAGAGGATCAGGAAGGACAGGA	0.505													False	0	True	5:9629445	0	TTCAAA	9629446	-	TTCAAA	9629445	7	5	90	1	0	1	1	0	0	0	0	0	15647	991	35	0	203	0	TAS2R1	5	9629445	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1922457	9629445	171285815	87	28733											
NIPBL	25836	broad.mit.edu	37	chr5	36985240	36985241	+	In_Frame_Ins	INS	-	-	GGT													caaacagaagaacttaaacaINSgaatgagagcagaacaactg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:36985240_36985241insGGT	ENST00000282516.8	+	10	2457_2458	c.1958_1959insGGT	c.(1957-1962)cagaat>caGGTgaat	p.653_654QN>QVN	NIPBL_ENST00000448238.2_In_Frame_Ins_p.653_654QN>QVN|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	653					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAACTTAAACAGAATGAGAGCA	0.351													False	0	False	5:36985240	0	GGT	36985241	-	GGT	36985240	7	5	90	1	0	1	1	0	0	0	0	0	10496	188	7	0	1992	0	NIPBL	5	36985240	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	27355795	36985240	143930020	88	28734											
C5orf51	285636	broad.mit.edu	37	chr5	41917303	41917304	+	Frame_Shift_Ins	INS	-	-	GAAACCGT													aggagaaaaaatcttgaaaaINSagtatgtatctgtgtgtgaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:41917303_41917304insGAAACCGT	ENST00000381647.2	+	6	806_807	c.787_788insGAAACCGT	c.(787-789)aagfs	p.K263fs		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	263										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AATCTTGAAAAAGTATGTATCT	0.386													False	0	True	5:41917303	0	GAAACCGT	41917304	-	GAAACCGT	41917303	7	5	90	1	0	1	1	0	0	0	0	0	2325	15	1	0	809	0	C5orf51	5	41917303	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	4932063	41917303	138997957	89	28735	302	2									
C5orf51	285636	broad.mit.edu	37	chr5	41917305	41917306	+	Frame_Shift_Ins	INS	-	-	TTATTAAC													gagaaaaaatcttgaaaaagINStatgtatctgtgtgtgaagg					rs149416451		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:41917305_41917306insTTATTAAC	ENST00000381647.2	+	6	808_809	c.789_790insTTATTAAC	c.(790-792)tatfs	p.Y264fs		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	264										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTGAAAAAGTATGTATCTGT	0.386													False	0	True	5:41917305	0	TTATTAAC	41917306	-	TTATTAAC	41917305	7	5	90	1	0	1	1	0	0	0	0	0	2325	1020	36	0	811	0	C5orf51	5	41917305	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	41917305	138997955	90	28736	302	2									
ZNF131	7690	broad.mit.edu	37	chr5	43174940	43174941	+	Frame_Shift_Ins	INS	-	-	CGCTCTGAAAT													gtccaagtgagttatctagaINSagtgggccgaattcagactg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:43174940_43174941insCGCTCTGAAAT	ENST00000509634.1	+	7	1931_1932	c.1475_1476insCGCTCTGAAAT	c.(1474-1479)gaagtgfs	p.EV492fs	ZNF131_ENST00000509156.1_Frame_Shift_Ins_p.EV526fs|ZNF131_ENST00000399534.1_Frame_Shift_Ins_p.EV526fs|ZNF131_ENST00000505606.2_Frame_Shift_Ins_p.EV492fs|ZNF131_ENST00000306938.4_Frame_Shift_Ins_p.EV492fs|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	526						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AGTTATCTAGAAGTGGGCCGAA	0.485													False	0	False	5:43174940	0	CGCTCTGAAAT	43174941	-	CGCTCTGAAAT	43174940	7	5	90	1	0	1	1	0	0	0	0	0	17804	246	9	0	1501	0	ZNF131	5	43174940	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1257635	43174940	137740320	91	28737											
SLC38A9	153129	broad.mit.edu	37	chr5	54929718	54929719	+	Frame_Shift_Ins	INS	-	-	TAAA													gtgtcactgctagggaagttINSgtctaaaaaattctaatcca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:54929718_54929719insTAAA	ENST00000512595.1	-	12	1279_1280	c.1104_1105insTTTA	c.(1102-1107)gacaacfs	p.N369fs	SLC38A9_ENST00000318672.3_Frame_Shift_Ins_p.N432fs|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000396865.2_Frame_Shift_Ins_p.N432fs|SLC38A9_ENST00000515629.1_Frame_Shift_Ins_p.N369fs|SLC38A9_ENST00000416547.2_Frame_Shift_Ins_p.N308fs	NM_001258287.1	NP_001245216.1	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	432					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CTAGGGAAGTTGTCTAAAAAAT	0.386													False	0	False	5:54929718	0	TAAA	54929719	-	TAAA	54929718	7	5	90	1	0	1	1	0	0	0	0	0	14691	1812	63	0	403	0	SLC38A9	5	54929718	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	11754778	54929718	125985542	92	28738	303	2									
SLC38A9	153129	broad.mit.edu	37	chr5	54929720	54929721	+	Frame_Shift_Ins	INS	-	-	GTGA													gtcactgctagggaagttgtINSctaaaaaattctaatccaag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:54929720_54929721insGTGA	ENST00000512595.1	-	12	1277_1278	c.1102_1103insTCAC	c.(1102-1104)gacfs	p.D368fs	SLC38A9_ENST00000318672.3_Frame_Shift_Ins_p.D431fs|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000396865.2_Frame_Shift_Ins_p.D431fs|SLC38A9_ENST00000515629.1_Frame_Shift_Ins_p.D368fs|SLC38A9_ENST00000416547.2_Frame_Shift_Ins_p.D307fs	NM_001258287.1	NP_001245216.1	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	431					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AGGGAAGTTGTCTAAAAAATTC	0.386													False	0	False	5:54929720	0	GTGA	54929721	-	GTGA	54929720	7	5	90	1	0	1	1	0	0	0	0	0	14691	1667	58	0	405	0	SLC38A9	5	54929720	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	54929720	125985540	93	28739	303	2									
DDX4	54514	broad.mit.edu	37	chr5	55075881	55075882	+	Frame_Shift_Ins	INS	-	-	AAATTTAATT													ttgccgtggaggatttggtcINStaggaagtccaagttagtac							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:55075881_55075882insAAATTTAATT	ENST00000505374.1	+	8	576_577	c.484_485insAAATTTAATT	c.(484-486)ctafs	p.L162fs	DDX4_ENST00000514278.2_Frame_Shift_Ins_p.L142fs|DDX4_ENST00000511853.1_Intron|DDX4_ENST00000353507.5_Intron|DDX4_ENST00000354991.5_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	162	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AGGATTTGGTCTAGGAAGTCCA	0.371													False	0	False	5:55075881	0	AAATTTAATT	55075882	-	AAATTTAATT	55075881	7	5	90	1	0	1	1	0	0	0	0	0	4385	912	32	0	551	0	DDX4	5	55075881	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	146161	55075881	125839379	94	28740											
BDP1	55814	broad.mit.edu	37	chr5	70805614	70805615	+	In_Frame_Ins	INS	-	-	GACTTGGTTAAGTTT													tgatgacaccatagaaatggINSagacaggtctgaaagcaatg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:70805614_70805615insGACTTGGTTAAGTTT	ENST00000358731.4	+	17	2958_2959	c.2695_2696insGACTTGGTTAAGTTT	c.(2695-2697)gag>gGACTTGGTTAAGTTTag	p.899_899E>GLG*V*	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	899	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CATAGAAATGGAGACAGGTCTG	0.406													False	0	False	5:70805614	0	GACTTGGTTAAGTTT	70805615	-	GACTTGGTTAAGTTT	70805614	7	5	90	1	0	1	1	0	0	0	0	0	1399	1175	41	0	2761	0	BDP1	5	70805614	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	15729733	70805614	110109646	95	28741											
POLR3G	10622	broad.mit.edu	37	chr5	89802405	89802406	+	In_Frame_Ins	INS	-	-	TTTACT													aaatgaagagaaagaaggaaINSgcaaagagaaaagtaaagaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:89802405_89802406insTTTACT	ENST00000399107.1	+	7	699_700	c.499_500insTTTACT	c.(499-501)agc>aTTTACTgc	p.167_167S>IYC	POLR3G_ENST00000504930.1_In_Frame_Ins_p.167_167S>IYC	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	167	Glu-rich.				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		gaaagaaggaagcaaagagaaa	0.376													False	0	True	5:89802405	0	TTTACT	89802406	-	TTTACT	89802405	7	5	90	1	0	1	1	0	0	0	0	0	12303	72	3	0	521	0	POLR3G	5	89802405	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	18996791	89802405	91112855	96	28742											
GPR98	84059	broad.mit.edu	37	chr5	90086832	90086833	+	Frame_Shift_Ins	INS	-	-	AAACTCAACAAAG													gtacctgagatagaggaagaINSttatgtgatccagcttgttt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:90086832_90086833insAAACTCAACAAAG	ENST00000405460.2	+	70	14282_14283	c.14186_14187insAAACTCAACAAAG	c.(14185-14190)gattatfs	p.DY4729fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.DY390fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4729	Calx-beta 32.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATAGAGGAAGATTATGTGATCC	0.441													False	0	False	5:90086832	0	AAACTCAACAAAG	90086833	-	AAACTCAACAAAG	90086832	7	5	90	1	0	1	1	0	0	0	0	0	6768	333	12	0	14464	0	GPR98	5	90086832	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	284427	90086832	90828428	97	28743											
TXNDC15	79770	broad.mit.edu	37	chr5	134232006	134232006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctaccaggtttggcaccGtagctgttcctaatatttta	7	9	1	0	rs139088311		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:134232006G>A	ENST00000358387.4	+	4	1403	c.778G>A	c.(778-780)Gta>Ata	p.V260I	TXNDC15_ENST00000546290.1_Missense_Mutation_p.V237I	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	260	Thioredoxin.				cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTGGCACCGTAGCTGTTCC	0.338													False	0	False	5:134232006	0	A	134232006	G	A	134232006	3	1	90	1	0	0	0	0	1	0	0	0	16878	1145	40	1	792	1	TXNDC15	5	134232006	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	44145174	134232006	46683254	98	28744											
PCDHGB3	0	broad.mit.edu	37	chr5	140750973	140750974	+	In_Frame_Ins	INS	-	-	CGG													taaagtacagatagatatttINScagatgaaaatgacaatgcc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:140750973_140750974insCGG	ENST00000576222.1	+	1	1143_1144	c.1012_1013insCGG	c.(1012-1014)tca>tCGGca	p.338_339insA	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGATATTTCAGATGAAAAT	0.446													False	0	True	5:140750973	0	CGG	140750974	-	CGG	140750973	7	5	90	1	0	1	1	0	0	0	0	0	11632	1783	62	0	1014	0	PCDHGB3	5	140750973	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	6518967	140750973	40164287	99	28745											
PCDHGA7	0	broad.mit.edu	37	chr5	140763117	140763117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcacagcctctgatggCggcgacccgccccgatccag	11	18	2	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:140763117C>T	ENST00000518325.1	+	1	651	c.651C>T	c.(649-651)ggC>ggT	p.G217G	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGATGGCGGCGACCCGC	0.607													False	0	False	5:140763117	0	T	140763117	C	T	140763117	2	4	90	1	0	0	0	0	0	0	0	1	11627	755	27	1		1	PCDHGA7	5	140763117	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	12144	140763117	40152143	100	28746											
SPINK5	11005	broad.mit.edu	37	chr5	147498129	147498130	+	Splice_Site	INS	-	-	TTTG													catgtgtaaagcaaaattgtINSaagtatttctctcaacaggc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:147498129_147498130insTTTG	ENST00000359874.3	+	23	2313		c.e23+2		SPINK5_ENST00000398454.1_Splice_Site|SPINK5_ENST00000256084.7_Splice_Site	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5						anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAAATTGTAAGTATTTCTC	0.386													False	0	False	5:147498129	0	TTTG	147498130	-	TTTG	147498129	8	5	90	1	0	1	1	0	0	0	1	0	15144	1652	57	0	2332	0	SPINK5	5	147498129	Splice_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	6735012	147498129	33417131	101	28747											
KIF4B	285643	broad.mit.edu	37	chr5	154395088	154395089	+	In_Frame_Ins	INS	-	-	GGCTGC													acagcccattcagtttcaatINSaccaggataacataaaaaat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:154395088_154395089insGGCTGC	ENST00000435029.4	+	1	1829_1830	c.1669_1670insGGCTGC	c.(1669-1671)tac>tGGCTGCac	p.557_557Y>WLH		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	557					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAGTTTCAATACCAGGATAAC	0.401													False	0	False	5:154395088	0	GGCTGC	154395089	-	GGCTGC	154395088	7	5	90	1	0	1	1	0	0	0	0	0	8354	1406	49	0	1671	0	KIF4B	5	154395088	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	6896959	154395088	26520172	102	28748	304	2									
KIF4B	285643	broad.mit.edu	37	chr5	154395089	154395090	+	Frame_Shift_Ins	INS	-	-	G													cagcccattcagtttcaataINSccaggataacataaaaaatc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:154395089_154395090insG	ENST00000435029.4	+	1	1830_1831	c.1670_1671insG	c.(1669-1674)taccagfs	p.YQ557fs		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	557					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTTCAATACCAGGATAACA	0.406													False	0	False	5:154395089	0	G	154395090	-	G	154395089	7	5	90	1	0	1	1	0	0	0	0	0	8354	391	14	0	1672	0	KIF4B	5	154395089	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1	154395089	26520171	103	28749	304	2									
DRD1	1812	broad.mit.edu	37	chr5	174869195	174869196	+	Frame_Shift_Ins	INS	-	-	ATGT													atcaatgcagaagggctgcgINStctccccagacccacagaag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:174869195_174869196insATGT	ENST00000393752.2	-	2	1899_1900	c.907_908insACAT	c.(907-909)acgfs	p.T303fs		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	303					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GAAGGGCTGCGTCTCCCCAGAC	0.475													False	0	False	5:174869195	0	ATGT	174869196	-	ATGT	174869195	7	5	90	1	0	1	1	0	0	0	0	0	4786	1145	40	0	436	0	DRD1	5	174869195	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	20474106	174869195	6046065	104	28750											
GPRIN1	114787	broad.mit.edu	37	chr5	176025336	176025336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggggacctgctgtcccCaaggacctgggatcgcctgg	16	12	0	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:176025336C>T	ENST00000303991.4	-	2	1677	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	500						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTGTCCCCAAGGACCTGG	0.547													False	0	True	5:176025336	0	T	176025336	C	T	176025336	2	4	90	1	0	0	0	0	0	0	0	1	6776	593	21	2		2	GPRIN1	5	176025336	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	1156141	176025336	4889924	105	28751											
BTNL9	153579	broad.mit.edu	37	chr5	180475168	180475168	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgcctatggcagcgtggtCctgcagcttcacagcatcat	10	13	2	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:180475168C>T	ENST00000327705.9	+	3	582	c.351C>T	c.(349-351)gtC>gtT	p.V117V	BTNL9_ENST00000376842.3_Silent_p.V117V|BTNL9_ENST00000515271.1_Silent_p.V48V|BTNL9_ENST00000376841.2_Silent_p.V117V	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	117	Ig-like V-type.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCGTGGTCCTGCAGCTTC	0.597													False	0	False	5:180475168	0	T	180475168	C	T	180475168	2	4	90	1	0	0	0	0	0	0	0	1	1575	842	30	2		2	BTNL9	5	180475168	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	4449832	180475168	440092	106	28752											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	90	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-7885-01A-11D-2154-08		7393450	163721617	107	28753											
DSP	1832	broad.mit.edu	37	chr6	7579947	7579948	+	In_Frame_Ins	INS	-	-	TTCTTTTATTTGGCCGTA													tacgagattgaaaggttgagINSggttctactgcaggaagaag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:7579947_7579948insTTCTTTTATTTGGCCGTA	ENST00000379802.3	+	23	3865_3866	c.3524_3525insTTCTTTTATTTGGCCGTA	c.(3523-3528)agggtt>agTTCTTTTATTTGGCCGTAggtt	p.1175_1175R>SSFIWP*	DSP_ENST00000418664.2_In_Frame_Ins_p.1175_1175R>SSFIWP*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1175	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAAGGTTGAGGGTTCTACTGC	0.431													False	0	True	6:7579947	0	TTCTTTTATTTGGCCGTA	7579948	-	TTCTTTTATTTGGCCGTA	7579947	7	5	90	1	0	1	1	0	0	0	0	0	4811	1000	35	0	3614	0	DSP	6	7579947	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	186497	7579947	163535120	108	28754											
PRL	5617	broad.mit.edu	37	chr6	22287805	22287806	+	Frame_Shift_Ins	INS	-	-	GAGAAGG													cagggtagatctcattttctINSttggtttcaggatgaaccta							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:22287805_22287806insGAGAAGG	ENST00000306482.1	-	5	1027_1028	c.509_510insCCTTCTC	c.(508-510)aaafs	p.K170fs	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	170					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TCTCATTTTCTTTGGTTTCAGG	0.391													False	0	True	6:22287805	0	GAGAAGG	22287806	-	GAGAAGG	22287805	7	5	90	1	0	1	1	0	0	0	0	0	12604	1606	56	0	177	0	PRL	6	22287805	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	14707858	22287805	148827262	109	28755	305	2									
PRL	5617	broad.mit.edu	37	chr6	22287806	22287807	+	In_Frame_Ins	INS	-	-	CCTTAA													agggtagatctcattttcttINStggtttcaggatgaacctaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:22287806_22287807insCCTTAA	ENST00000306482.1	-	5	1026_1027	c.508_509insTTAAGG	c.(508-510)aaa>aTTAAGGaa	p.170_170K>IKE	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	170					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CTCATTTTCTTTGGTTTCAGGA	0.386													False	0	True	6:22287806	0	CCTTAA	22287807	-	CCTTAA	22287806	7	5	90	1	0	1	1	0	0	0	0	0	12604	1841	64	0	178	0	PRL	6	22287806	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1	22287806	148827261	110	28756	305	2									
NRSN1	140767	broad.mit.edu	37	chr6	24145857	24145857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcttgtgccccccaaaatcGaagcatttggcgaagccgat	9	12	1	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:24145857G>A	ENST00000378491.4	+	4	572	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	91					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.E91K(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CCCCAAAATCGAAGCATTTGG	0.488													False	0	False	6:24145857	0	A	24145857	G	A	24145857	3	1	90	1	0	0	0	0	1	0	0	0	10730	1059	37	1	277	1	NRSN1	6	24145857	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	1858051	24145857	146969210	111	28757											
PGBD1	84547	broad.mit.edu	37	chr6	28269868	28269869	+	In_Frame_Ins	INS	-	-	CTCATTGTTTTC													gctaaaatggatcaaattatINSttcgaaatacagggtgagga					rs115398017	by1000genomes	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:28269868_28269869insCTCATTGTTTTC	ENST00000405948.2	+	7	2657_2658	c.2237_2238insCTCATTGTTTTC	c.(2236-2241)atttcg>atCTCATTGTTTTCttcg	p.747_748insLFSS	PGBD1_ENST00000259883.3_In_Frame_Ins_p.747_748insLFSS	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	747					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GATCAAATTATTTCGAAATACA	0.381													False	0	True	6:28269868	0	CTCATTGTTTTC	28269869	-	CTCATTGTTTTC	28269868	7	5	90	1	0	1	1	0	0	0	0	0	11849	1493	52	0	2259	0	PGBD1	6	28269868	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	4124011	28269868	142845199	112	28758											
TRIM26	7726	broad.mit.edu	37	chr6	30166741	30166741	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcagacggggcggctccctGagatggggcggacgtctgtg	20	10	1	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:30166741G>A	ENST00000454678.2	-	4	576	c.140C>T	c.(139-141)tCa>tTa	p.S47L	TRIM26_ENST00000437089.1_Missense_Mutation_p.S47L|TRIM26_ENST00000453195.1_Missense_Mutation_p.S47L|TRIM26_ENST00000487829.1_5'UTR	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	47							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GCGGCTCCCTGAGATGGGGCG	0.602													False	0	False	6:30166741	0	A	30166741	G	A	30166741	3	1	90	1	0	0	0	0	1	0	0	0	16583	1294	45	2	1507	2	TRIM26	6	30166741	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	1896873	30166741	140948326	113	28759											
TRIM39	56658	broad.mit.edu	37	chr6	30297278	30297279	+	Frame_Shift_Ins	INS	-	-	AAATAAAAATATTAATT													ctggtgggaggacctagagaINSgggacttcccttgtcctgtc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:30297278_30297279insAAATAAAAATATTAATT	ENST00000376659.5	+	3	782_783	c.184_185insAAATAAAAATATTAATT	c.(184-186)aggfs	p.R62fs	TRIM39_ENST00000396551.3_Frame_Shift_Ins_p.R62fs|TRIM39_ENST00000396547.1_Frame_Shift_Ins_p.R62fs|TRIM39_ENST00000540416.1_Frame_Shift_Ins_p.R62fs|TRIM39_ENST00000376656.4_Frame_Shift_Ins_p.R62fs|TRIM39_ENST00000396548.1_Frame_Shift_Ins_p.R62fs	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GGACCTAGAGAGGGACTTCCCT	0.545													False	0	True	6:30297278	0	AAATAAAAATATTAATT	30297279	-	AAATAAAAATATTAATT	30297278	7	5	90	1	0	1	1	0	0	0	0	0	16596	295	11	0	186	0	TRIM39	6	30297278	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	130537	30297278	140817789	114	28760											
CFB	629	broad.mit.edu	37	chr6	31918989	31918989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaggagaaaaagctgactCggaaggaggtctacatcaag	14	6	2	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:31918989C>T	ENST00000456570.1	+	27	3485	c.3430C>T	c.(3430-3432)Cgg>Tgg	p.R1144W	CFB_ENST00000425368.2_Missense_Mutation_p.R642W|CFB_ENST00000477310.1_Missense_Mutation_p.R993W|CFB_ENST00000556679.1_Missense_Mutation_p.R1144W			P00751	CFAB_HUMAN	complement factor B	642					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAAGCTGACTCGGAAGGAGGT	0.502													False	0	False	6:31918989	0	T	31918989	C	T	31918989	3	4	90	1	0	0	0	0	1	0	0	0	3301	875	31	1	1982	1	CFB	6	31918989	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	1621711	31918989	139196078	115	28761											
ZNF318	24149	broad.mit.edu	37	chr6	43322608	43322609	+	In_Frame_Ins	INS	-	-	AAATTTGTA													gcttgtttggttattggcatINStatcctgtgtggttcaggta							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:43322608_43322609insAAATTTGTA	ENST00000361428.2	-	4	2540_2541	c.2463_2464insTACAAATTT	c.(2461-2466)ataatg>ataTACAAATTTatg	p.821_822IM>IYKFM	ZNF318_ENST00000318149.3_In_Frame_Ins_p.821_822IM>IYKFM	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	821					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GTTATTGGCATTATCCTGTGTG	0.51													False	0	False	6:43322608	0	AAATTTGTA	43322609	-	AAATTTGTA	43322608	7	5	90	1	0	1	1	0	0	0	0	0	17919	1493	52	0	4403	0	ZNF318	6	43322608	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	11403619	43322608	127792459	116	28762											
TDRD6	221400	broad.mit.edu	37	chr6	46657989	46657990	+	Frame_Shift_Ins	INS	-	-	TCTTTTT													agactggagaaggagagcagINSaaagccaagagagagaataa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:46657989_46657990insTCTTTTT	ENST00000316081.6	+	1	2124_2125	c.2124_2125insTCTTTTT	c.(2125-2127)aaafs	p.K709fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.K709fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	709					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAGGAGAGCAGAAAGCCAAGAG	0.406													False	0	True	6:46657989	0	TCTTTTT	46657990	-	TCTTTTT	46657989	7	5	90	1	0	1	1	0	0	0	0	0	15816	933	33	0	2126	0	TDRD6	6	46657989	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	3335381	46657989	124457078	117	28763											
PHF3	23469	broad.mit.edu	37	chr6	64401885	64401886	+	In_Frame_Ins	INS	-	-	TGG													acacaacaaatgatagaaccINSaaatatatagatgatacagt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:64401885_64401886insTGG	ENST00000262043.3	+	5	2788_2789	c.2448_2449insTGG	c.(2449-2451)aaa>TGGaaa	p.816_817insW	PHF3_ENST00000393387.1_In_Frame_Ins_p.816_817insW			Q92576	PHF3_HUMAN	PHD finger protein 3	816					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATGATAGAACCAAATATATAGA	0.317													False	0	True	6:64401885	0	TGG	64401886	-	TGG	64401885	7	5	90	1	0	1	1	0	0	0	0	0	11905	581	21	0	2462	0	PHF3	6	64401885	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	17743896	64401885	106713182	118	28764											
ZNF292	23036	broad.mit.edu	37	chr6	87969936	87969936	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacaacactacatgaaacttCatgaaatgactcctgaagaa	5	9	1	5			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:87969936C>A	ENST00000369577.3	+	8	6632	c.6589C>A	c.(6589-6591)Cat>Aat	p.H2197N	ZNF292_ENST00000339907.4_Missense_Mutation_p.H2192N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATGAAACTTCATGAAATGAC	0.353													False	0	False	6:87969936	0	A	87969936	C	A	87969936	3	1	90	1	0	0	0	0	1	0	0	0	17909	826	29	3	6619	3	ZNF292	6	87969936	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	23568051	87969936	83145131	119	28765											
FHL5	9457	broad.mit.edu	37	chr6	97058549	97058550	+	In_Frame_Ins	INS	-	-	ATTCTTTTGAGATCCTAGTATCTC													tctgtgaagaacagttcatgINStccagagacgactatccatt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:97058549_97058550insATTCTTTTGAGATCCTAGTATCTC	ENST00000326771.2	+	6	986_987	c.606_607insATTCTTTTGAGATCCTAGTATCTC	c.(607-609)tcc>ATTCTTTTGAGATCCTAGTATCTCtcc	p.202_203insILLRS*YL	FHL5_ENST00000541107.1_In_Frame_Ins_p.202_203insILLRS*YL	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	202	LIM zinc-binding 3.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AACAGTTCATGTCCAGAGACGA	0.436													False	0	False	6:97058549	0	ATTCTTTTGAGATCCTAGTATCTC	97058550	-	ATTCTTTTGAGATCCTAGTATCTC	97058549	7	5	90	1	0	1	1	0	0	0	0	0	5921	1377	48	0	620	0	FHL5	6	97058549	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	9088613	97058549	74056518	120	28766											
USP45	85015	broad.mit.edu	37	chr6	99936632	99936633	+	Frame_Shift_Ins	INS	-	-	TTTGTTTA													ataaatttctgcattttcctINScccttctgtatttcatctgt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:99936632_99936633insTTTGTTTA	ENST00000327681.6	-	6	1074_1075	c.542_543insTAAACAAA	c.(541-543)ggafs	p.-181fs	USP45_ENST00000472914.2_Frame_Shift_Ins_p.-181fs|USP45_ENST00000329966.5_Frame_Shift_Ins_p.-181fs|USP45_ENST00000369233.2_Frame_Shift_Ins_p.-181fs|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000500704.2_Frame_Shift_Ins_p.-181fs	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TGCATTTTCCTCCCTTCTGTAT	0.317													False	0	True	6:99936632	0	TTTGTTTA	99936633	-	TTTGTTTA	99936632	7	5	90	1	0	1	1	0	0	0	0	0	17160	1538	54	0	1953	0	USP45	6	99936632	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2878083	99936632	71178435	121	28767											
LIN28B	389421	broad.mit.edu	37	chr6	105406148	105406149	+	Frame_Shift_Ins	INS	-	-	GCATTCAAAG													ttggatattccagtcgatgtINSatttgtacaccaagtaagcc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:105406148_105406149insGCATTCAAAG	ENST00000345080.4	+	2	388_389	c.185_186insGCATTCAAAG	c.(184-189)gtatttfs	p.F63fs		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	63	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CCAGTCGATGTATTTGTACACC	0.46													False	0	True	6:105406148	0	GCATTCAAAG	105406149	-	GCATTCAAAG	105406148	7	5	90	1	0	1	1	0	0	0	0	0	8859	1638	57	0	191	0	LIN28B	6	105406148	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	5469516	105406148	65708919	122	28768											
ARMC2	84071	broad.mit.edu	37	chr6	109225509	109225510	+	Frame_Shift_Ins	INS	-	-	CTTC													aaggaaacatgcttggaaatINSaaatttaagggaagaagtat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:109225509_109225510insCTTC	ENST00000392644.4	+	8	1092_1093	c.924_925insCTTC	c.(925-927)aaafs	p.K309fs	ARMC2_ENST00000368972.3_Frame_Shift_Ins_p.K144fs	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	309							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TGCTTGGAAATAAATTTAAGGG	0.391													False	0	True	6:109225509	0	CTTC	109225510	-	CTTC	109225509	7	5	90	1	0	1	1	0	0	0	0	0	955	1403	49	0	950	0	ARMC2	6	109225509	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	3819361	109225509	61889558	123	28769											
GPRC6A	0	broad.mit.edu	37	chr6	117116998	117116999	+	Splice_Site	DEL	GC	GC	-													ggagcatttagattgaatttGctatattaaaagtgaaaaaa					rs78807485		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:117116998_117116999delGC	ENST00000310357.3	-	5	1570	c.1549delGC	c.(1549-1551)gca>ca	p.A517fs	GPRC6A_ENST00000530250.1_Splice_Site_p.A342fs|GPRC6A_ENST00000368549.3_Splice_Site_p.A446fs	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	517					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GATTGAATTTGCTATATTAAAA	0.302													False	1	False	6:117116998	0	-	117116999	GC	-	117116998	8	5	90	1	0	1	0	1	0	0	1	0	6775	1333	46	0	1239	0	GPRC6A	6	117116998	Splice_Site	DEL	GC	TCGA-IB-7885-01A-11D-2154-08	7891489	117116998	53998069	124	28770											
THEMIS	387357	broad.mit.edu	37	chr6	128134170	128134171	+	Frame_Shift_Ins	INS	-	-	TGCAATGA													tctccgcatcatgtaatattINSgctcttcagtgatctcttct							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:128134170_128134171insTGCAATGA	ENST00000368250.1	-	5	1876_1877	c.1378_1379insTCATTGCA	c.(1378-1380)caafs	p.Q460fs	THEMIS_ENST00000543064.1_Frame_Shift_Ins_p.Q539fs|THEMIS_ENST00000368248.2_Frame_Shift_Ins_p.Q539fs|THEMIS_ENST00000537166.1_Frame_Shift_Ins_p.Q504fs			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	539	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.Q539K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CATGTAATATTGCTCTTCAGTG	0.465													False	0	False	6:128134170	0	TGCAATGA	128134171	-	TGCAATGA	128134170	7	5	90	1	0	1	1	0	0	0	0	0	15942	1812	63	0	442	0	THEMIS	6	128134170	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	11017172	128134170	42980897	125	28771											
THEMIS	387357	broad.mit.edu	37	chr6	128134640	128134640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggtccccaacagatacGgatgacagcttgtcatgagg	11	10	1	3			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:128134640G>A	ENST00000368250.1	-	5	1407	c.909C>T	c.(907-909)tcC>tcT	p.S303S	THEMIS_ENST00000537166.1_Silent_p.S347S|THEMIS_ENST00000543064.1_Silent_p.S382S|THEMIS_ENST00000368248.2_Silent_p.S382S			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	382	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAACAGATACGGATGACAGCT	0.488													False	0	False	6:128134640	0	A	128134640	G	A	128134640	2	1	90	1	0	0	0	0	0	0	0	1	15942	1103	39	1		1	THEMIS	6	128134640	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	470	128134640	42980427	126	28772											
L3MBTL3	84456	broad.mit.edu	37	chr6	130370494	130370495	+	In_Frame_Ins	INS	-	-	GTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATAT													gagatggaaaatgttaaaaaINSagcaactgctaccaccactt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:130370494_130370495insGTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATAT	ENST00000529410.1	+	6	649_650	c.170_171insGTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATAT	c.(169-174)aaagca>aaGTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATATagca	p.57_58KA>KCSGKSLII*WLTHIA	L3MBTL3_ENST00000368139.2_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000533560.1_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000368136.2_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000526019.1_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA|L3MBTL3_ENST00000361794.2_In_Frame_Ins_p.57_58KA>KCSGKSLII*WLTHIA			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	57					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AATGTTAAAAAAGCAACTGCTA	0.371													False	0	True	6:130370494	0	GTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATAT	130370495	-	GTGCTCAGGAAAGTCATTAATTATTTAATGGCTGACACATAT	130370494	7	5	90	1	0	1	1	0	0	0	0	0	8644	14	1	0	176	0	L3MBTL3	6	130370494	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2235854	130370494	40744573	127	28773											
IGF2R	3482	broad.mit.edu	37	chr6	160464224	160464225	+	Frame_Shift_Ins	INS	-	-	GCACAAAAATTCAC													ggatggcagtcagacggaaaINScagagaagaagcattttttc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:160464224_160464225insGCACAAAAATTCAC	ENST00000356956.1	+	12	1673_1674	c.1525_1526insGCACAAAAATTCAC	c.(1525-1527)acafs	p.T509fs		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	509					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TCAGACGGAAACAGAGAAGAAG	0.47													False	0	True	6:160464224	0	GCACAAAAATTCAC	160464225	-	GCACAAAAATTCAC	160464224	7	5	90	1	0	1	1	0	0	0	0	0	7626	43	2	0	1571	0	IGF2R	6	160464224	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	30093730	160464224	10650843	128	28774											
C1GALT1	56913	broad.mit.edu	37	chr7	7283351	7283352	+	Frame_Shift_Ins	INS	-	-	CAGGTATTGTTAATAAACAGCACATTGCTAGC													acaaaagtgaagttaggaaaINStccttgaaagaaaatcatga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:7283351_7283352insCAGGTATTGTTAATAAACAGCACATTGCTAGC	ENST00000223122.2	+	3	1147_1148	c.1085_1086insCAGGTATTGTTAATAAACAGCACATTGCTAGC	c.(1084-1089)aatcctfs	p.P363fs	C1GALT1_ENST00000436587.2_Frame_Shift_Ins_p.P363fs			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	363					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AAGTTAGGAAATCCTTGAAAGA	0.342													False	0	True	7:7283351	0	CAGGTATTGTTAATAAACAGCACATTGCTAGC	7283352	-	CAGGTATTGTTAATAAACAGCACATTGCTAGC	7283351	7	5	90	1	0	1	1	0	0	0	0	0	1967	101	4	0	1095	0	C1GALT1	7	7283351	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		7283351	151855312	129	28775											
COL28A1	340267	broad.mit.edu	37	chr7	7398398	7398399	+	Frame_Shift_Ins	INS	-	-	CAATACAAATACAGCACTATATTTGAGTGTATACTGAGTATTTACAACTTAT													catcgaaccacatattcaccINSacagtttccaggcttcaagg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:7398398_7398399insCAATACAAATACAGCACTATATTTGAGTGTATACTGAGTATTTACAACTTAT	ENST00000399429.3	-	35	3383_3384	c.3243_3244insATAAGTTGTAAATACTCAGTATACACTCAAATATAGTGCTGTATTTGTATTG	c.(3241-3246)tgtggtfs	p.CG1081fs		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1081	BPTI/Kunitz inhibitor.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACATATTCACCACAGTTTCCAG	0.391													False	0	False	7:7398398	0	CAATACAAATACAGCACTATATTTGAGTGTATACTGAGTATTTACAACTTAT	7398399	-	CAATACAAATACAGCACTATATTTGAGTGTATACTGAGTATTTACAACTTAT	7398398	7	5	90	1	0	1	1	0	0	0	0	0	3709	594	21	0	137	0	COL28A1	7	7398398	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	115047	7398398	151740265	130	28776											
ITGB8	3696	broad.mit.edu	37	chr7	20418768	20418769	+	Frame_Shift_Ins	INS	-	-	CATCACA													tctcagcatcaatgcacaatINSaatatagaaaaattaaattc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:20418768_20418769insCATCACA	ENST00000222573.3	+	4	1167_1168	c.483_484insCATCACA	c.(484-486)aatfs	p.N162fs	ITGB8_ENST00000537992.1_Frame_Shift_Ins_p.N27fs	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	162	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAATGCACAATAATATAGAAAA	0.347													False	0	False	7:20418768	0	CATCACA	20418769	-	CATCACA	20418768	7	5	90	1	0	1	1	0	0	0	0	0	7951	1403	49	0	497	0	ITGB8	7	20418768	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	13020370	20418768	138719895	131	28777											
TAX1BP1	8887	broad.mit.edu	37	chr7	27856107	27856108	+	In_Frame_Ins	INS	-	-	AAATATTTCATAAATACAGCAGTATTAAACATT													gcacaaccagttctgcaataINStggtaatccttatgcatctc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:27856107_27856108insAAATATTTCATAAATACAGCAGTATTAAACATT	ENST00000396319.2	+	14	1992_1993	c.1904_1905insAAATATTTCATAAATACAGCAGTATTAAACATT	c.(1903-1908)tatggt>taAAATATTTCATAAATACAGCAGTATTAAACATTtggt	p.635_635Y>*NIS*IQQY*TF	TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000543117.1_Intron|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000409980.1_In_Frame_Ins_p.659_659Y>*NIS*IQQY*TF	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	635					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GTTCTGCAATATGGTAATCCTT	0.366													False	0	False	7:27856107	0	AAATATTTCATAAATACAGCAGTATTAAACATT	27856108	-	AAATATTTCATAAATACAGCAGTATTAAACATT	27856107	7	5	90	1	0	1	1	0	0	0	0	0	15676	449	16	0	1954	0	TAX1BP1	7	27856107	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	7437339	27856107	131282556	132	28778											
BMPER	168667	broad.mit.edu	37	chr7	34125581	34125582	+	In_Frame_Ins	INS	-	-	CTTGAGATG													aacagacctcagagaaagccINSagtgcctgaactgtgtcaag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:34125581_34125582insCTTGAGATG	ENST00000297161.2	+	14	1996_1997	c.1622_1623insCTTGAGATG	c.(1621-1626)ccagtg>ccCTTGAGATGagtg	p.541_542PV>PLR*V	BMPER_ENST00000426693.1_In_Frame_Ins_p.541_542PV>PLR*V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	541	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAGAGAAAGCCAGTGCCTGAAC	0.49													False	0	False	7:34125581	0	CTTGAGATG	34125582	-	CTTGAGATG	34125581	7	5	90	1	0	1	1	0	0	0	0	0	1473	594	21	0	1672	0	BMPER	7	34125581	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	6269474	34125581	125013082	133	28779											
CDK13	8621	broad.mit.edu	37	chr7	40102653	40102654	+	Frame_Shift_Ins	INS	-	-	ACAGAAAACAGTCTTTAGAGTTAGTATTTGTTGGAGTAAGA													cgaactcttcactaaaaaacINSctatatttcaagcaaatcag					rs138286408		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:40102653_40102654insACAGAAAACAGTCTTTAGAGTTAGTATTTGTTGGAGTAAGA	ENST00000181839.4	+	9	3339_3340	c.2734_2735insACAGAAAACAGTCTTTAGAGTTAGTATTTGTTGGAGTAAGA	c.(2734-2736)cctfs	p.P912fs	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Frame_Shift_Ins_p.P912fs	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	912	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CACTAAAAAACCTATATTTCAA	0.347													False	0	False	7:40102653	0	ACAGAAAACAGTCTTTAGAGTTAGTATTTGTTGGAGTAAGA	40102654	-	ACAGAAAACAGTCTTTAGAGTTAGTATTTGTTGGAGTAAGA	40102653	7	5	90	1	0	1	1	0	0	0	0	0	3152	507	18	0	2768	0	CDK13	7	40102653	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	5977072	40102653	119036010	134	28780											
HECW1	23072	broad.mit.edu	37	chr7	43447240	43447240	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttccattcagcctgggaaAcacagcatcttccccgccct	6	16	2	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:43447240A>G	ENST00000395891.2	+	8	1316	c.711A>G	c.(709-711)aaA>aaG	p.K237K	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Silent_p.K237K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCCTGGGAAACACAGCATCT	0.493													False	0	True	7:43447240	0	G	43447240	A	G	43447240	2	3	90	1	0	0	0	0	0	0	0	1	7089	40	2	4		4	HECW1	7	43447240	Silent	SNP	A	TCGA-IB-7885-01A-11D-2154-08	3344587	43447240	115691423	135	28781											
PPIA	5478	broad.mit.edu	37	chr7	44839374	44839375	+	In_Frame_Ins	INS	-	-	TAAACC													aaatttgaagatgagaacttINScatcctaaagcatacgggtc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:44839374_44839375insTAAACC	ENST00000468812.1	+	4	308_309	c.263_264insTAAACC	c.(262-267)ttcatc>ttTAAACCcatc	p.88_89FI>FKPI	PPIA_ENST00000355968.6_In_Frame_Ins_p.28_29FI>FKPI|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000451562.1_In_Frame_Ins_p.88_89FI>FKPI|PPIA_ENST00000489459.1_In_Frame_Ins_p.28_29FI>FKPI	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	88	PPIase cyclophilin-type.				entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	GATGAGAACTTCATCCTAAAGC	0.465													False	0	False	7:44839374	0	TAAACC	44839375	-	TAAACC	44839374	7	5	90	1	0	1	1	0	0	0	0	0	12385	1783	62	0	277	0	PPIA	7	44839374	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1392134	44839374	114299289	136	28782	306	2									
PPIA	5478	broad.mit.edu	37	chr7	44839376	44839377	+	Frame_Shift_Ins	INS	-	-	AGTTCAAACTGAATAGAAGGGTTAAATAGAACCGAAATGG													atttgaagatgagaacttcaINStcctaaagcatacgggtcct					rs17850033		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:44839376_44839377insAGTTCAAACTGAATAGAAGGGTTAAATAGAACCGAAATGG	ENST00000468812.1	+	4	310_311	c.265_266insAGTTCAAACTGAATAGAAGGGTTAAATAGAACCGAAATGG	c.(265-267)atcfs	p.I89fs	PPIA_ENST00000355968.6_Frame_Shift_Ins_p.I29fs|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000451562.1_Frame_Shift_Ins_p.I89fs|PPIA_ENST00000489459.1_Frame_Shift_Ins_p.I29fs	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	89	PPIase cyclophilin-type.			I -> T (in Ref. 5; AAH05982).	entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	TGAGAACTTCATCCTAAAGCAT	0.46													False	0	False	7:44839376	0	AGTTCAAACTGAATAGAAGGGTTAAATAGAACCGAAATGG	44839377	-	AGTTCAAACTGAATAGAAGGGTTAAATAGAACCGAAATGG	44839376	7	5	90	1	0	1	1	0	0	0	0	0	12385	217	8	0	279	0	PPIA	7	44839376	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	44839376	114299287	137	28783	306	2									
PCLO	27445	broad.mit.edu	37	chr7	82584750	82584750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcctgacgtaactctTctgtcggagatgcatcttca	9	12	4	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:82584750T>C	ENST00000333891.9	-	5	5856	c.5519A>G	c.(5518-5520)gAa>gGa	p.E1840G	PCLO_ENST00000423517.2_Missense_Mutation_p.E1840G	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACGTAACTCTTCTGTCGGAGA	0.438													False	0	False	7:82584750	0	C	82584750	T	C	82584750	3	2	90	1	0	0	0	0	1	0	0	0	11651	1783	62	4	10010	4	PCLO	7	82584750	Missense_Mutation	SNP	T	TCGA-IB-7885-01A-11D-2154-08	37745374	82584750	76553913	138	28784											
PSMC2	5701	broad.mit.edu	37	chr7	102996160	102996160	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtattaaagaatctgacacTggcctggccccaccagcact	9	13	1	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:102996160T>C	ENST00000435765.1	+	5	621	c.210T>C	c.(208-210)acT>acC	p.T70T	PSMC2_ENST00000544811.1_Intron|PSMC2_ENST00000292644.3_Silent_p.T70T|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	70					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AATCTGACACTGGCCTGGCCC	0.448													False	0	True	7:102996160	0	C	102996160	T	C	102996160	2	2	90	1	0	0	0	0	0	0	0	1	12762	1567	55	4		4	PSMC2	7	102996160	Silent	SNP	T	TCGA-IB-7885-01A-11D-2154-08	20411410	102996160	56142503	139	28785											
RINT1	60561	broad.mit.edu	37	chr7	105187701	105187702	+	Frame_Shift_Ins	INS	-	-	C													tcaatcacaaactgttggctINStaagtcgacctgccagtgcc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:105187701_105187702insC	ENST00000257700.2	+	6	991_992	c.760_761insC	c.(760-762)ttafs	p.L254fs		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	254	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AACTGTTGGCTTAAGTCGACCT	0.426													False	0	False	7:105187701	0	C	105187702	-	C	105187701	7	5	90	1	0	1	1	0	0	0	0	0	13455	1606	56	0	782	0	RINT1	7	105187701	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2191541	105187701	53950962	140	28786	307	2									
RINT1	60561	broad.mit.edu	37	chr7	105187702	105187703	+	Frame_Shift_Ins	INS	-	-	CATG													caatcacaaactgttggcttINSaagtcgacctgccagtgccc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:105187702_105187703insCATG	ENST00000257700.2	+	6	992_993	c.761_762insCATG	c.(760-765)ttaagtfs	p.LS254fs		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	254	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACTGTTGGCTTAAGTCGACCTG	0.431													False	0	False	7:105187702	0	CATG	105187703	-	CATG	105187702	7	5	90	1	0	1	1	0	0	0	0	0	13455	1764	61	0	783	0	RINT1	7	105187702	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1	105187702	53950961	141	28787	307	2									
PPP1R3A	5506	broad.mit.edu	37	chr7	113517921	113517922	+	Frame_Shift_Ins	INS	-	-	TTAACCCCAAACA													aacaaaaggaaataaggtatINStttagagttggtatattttg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:113517921_113517922insTTAACCCCAAACA	ENST00000284601.3	-	4	3293_3294	c.3225_3226insTGTTTGGGGTTAA	c.(3223-3228)aaaatafs	p.I1076fs		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1076					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAATAAGGTATTTTAGAGTTGG	0.356													False	0	True	7:113517921	0	TTAACCCCAAACA	113517922	-	TTAACCCCAAACA	113517921	7	5	90	1	0	1	1	0	0	0	0	0	12445	1493	52	0	146	0	PPP1R3A	7	113517921	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	8330219	113517921	45620742	142	28788											
OR2A14	135941	broad.mit.edu	37	chr7	143826730	143826732	+	In_Frame_Del	DEL	CTT	CTT	-													gggcctcatgaaatcaaccaCttcttctgtgaaatcctgtc					rs66549240		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:143826730_143826732delCTT	ENST00000408899.2	+	1	580_582	c.525_527delCTT	c.(523-528)cacttc>cac	p.F177del		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	177				Missing (in Ref. 2; AAK95081).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AAATCAACCACTTCTTCTGTGAA	0.562													False	2	False	7:143826730	0	-	143826732	CTT	-	143826730	7	5	90	1	0	1	0	1	0	0	0	0	11044	564	20	0	527	0	OR2A14	7	143826730	In_Frame_Del	DEL	CTT	TCGA-IB-7885-01A-11D-2154-08	30308809	143826730	15311933	143	28789											
SSPO	23145	broad.mit.edu	37	chr7	149524951	149524951	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgaacgccacaaagacccaGagtaactgcagttcagctcg	9	12	1	3			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:149524951G>A	ENST00000378016.2	+	0	14862							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAAAGACCCAGAGTAACTGCA	0.682													False	0	False	7:149524951	0	A	149524951	G	A	149524951	1	1	90	0	1	0	0	0	0	0	0	0	15271	933	33	2		2	SSPO	7	149524951	RNA	SNP	G	TCGA-IB-7885-01A-11D-2154-08	5698221	149524951	9613712	144	28790											
SH2D4A	63898	broad.mit.edu	37	chr8	19250984	19250984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgatgcctctgcagacGcctacagcttcctgggcgtg	11	14	2	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:19250984G>A	ENST00000265807.3	+	9	1615	c.1204G>A	c.(1204-1206)Gcc>Acc	p.A402T	SH2D4A_ENST00000518040.1_Missense_Mutation_p.A357T|SH2D4A_ENST00000519207.1_Missense_Mutation_p.A402T	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	402	SH2.					cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		CTCTGCAGACGCCTACAGCTT	0.498													False	0	False	8:19250984	0	A	19250984	G	A	19250984	3	1	90	1	0	0	0	0	1	0	0	0	14316	1087	38	1	1284	1	SH2D4A	8	19250984	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08		19250984	127113038	145	28791											
HR	55806	broad.mit.edu	37	chr8	21985133	21985133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggccaggaggtccagggCacagtgtctggctgccccag	17	13	1	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:21985133C>T	ENST00000381418.4	-	3	2302	c.822G>A	c.(820-822)gtG>gtA	p.V274V	HR_ENST00000312841.8_Silent_p.V274V	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	274							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGTCCAGGGCACAGTGTCTG	0.657													False	0	True	8:21985133	0	T	21985133	C	T	21985133	2	4	90	1	0	0	0	0	0	0	0	1	7394	697	25	2		2	HR	8	21985133	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	2734149	21985133	124378889	146	28792											
CDCA2	157313	broad.mit.edu	37	chr8	25364303	25364304	+	Frame_Shift_Ins	INS	-	-	TTTTTAGG													aaaatgaaccaaaagctggaINSactgacagtcctgtttcttg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:25364303_25364304insTTTTTAGG	ENST00000330560.3	+	15	2598_2599	c.2121_2122insTTTTTAGG	c.(2122-2124)actfs	p.T708fs	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Frame_Shift_Ins_p.T693fs	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	708					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CAAAAGCTGGAACTGACAGTCC	0.371													False	0	False	8:25364303	0	TTTTTAGG	25364304	-	TTTTTAGG	25364303	7	5	90	1	0	1	1	0	0	0	0	0	3109	233	9	0	2175	0	CDCA2	8	25364303	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	3379170	25364303	120999719	147	28793											
SDCBP	6386	broad.mit.edu	37	chr8	59488620	59488621	+	Splice_Site	INS	-	-	TAACTGGAACTTACTCA													ggcttaaatcaatagataatINSgtaagtattttaaataccta							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:59488620_59488621insTAACTGGAACTTACTCA	ENST00000523483.1	+	6	1976	c.462_462insTAACTGGAACTTACTCA	c.(463-465)ggt>ggTAACTGGAACTTACTCAt	p.-155fs	SDCBP_ENST00000422546.2_Splice_Site_p.-134fs|SDCBP_ENST00000413219.2_Splice_Site_p.-135fs|SDCBP_ENST00000260130.4_Splice_Site_p.-135fs|SDCBP_ENST00000447182.2_Splice_Site_p.-134fs|SDCBP_ENST00000424270.2_Splice_Site_p.-129fs|SDCBP_ENST00000447267.2_Intron|SDCBP_ENST00000520168.1_Intron			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)						actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CAATAGATAATGTAAGTATTTT	0.267													False	0	False	8:59488620	0	TAACTGGAACTTACTCA	59488621	-	TAACTGGAACTTACTCA	59488620	8	5	90	1	0	1	1	0	0	0	1	0	14036	1478	51	0	416	0	SDCBP	8	59488620	Splice_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	34124317	59488620	86875402	148	28794											
ADHFE1	137872	broad.mit.edu	37	chr8	67364291	67364292	+	In_Frame_Ins	INS	-	-	GATATATTATCT													gggcagcaacccaatcagtgINSacatttgggctatccacgcg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:67364291_67364292insGATATATTATCT	ENST00000396623.3	+	9	869_870	c.838_839insGATATATTATCT	c.(838-840)gac>gGATATATTATCTac	p.280_280D>GYIIY	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_In_Frame_Ins_p.280_280D>GYIIY|ADHFE1_ENST00000415254.1_In_Frame_Ins_p.232_232D>GYIIY	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	280					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCCAATCAGTGACATTTGGGCT	0.574													False	0	False	8:67364291	0	GATATATTATCT	67364292	-	GATATATTATCT	67364291	7	5	90	1	0	1	1	0	0	0	0	0	314	1290	45	0	872	0	ADHFE1	8	67364291	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	7875671	67364291	78999731	149	28795											
ZHX1	11244	broad.mit.edu	37	chr8	124267956	124267957	+	Frame_Shift_Ins	INS	-	-	TGGTAGTTTTGTT													tatttagatctggagtttgaINSaaagtacaatatttacattc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:124267956_124267957insTGGTAGTTTTGTT	ENST00000522655.1	-	3	770_771	c.230_231insAACAAAACTACCA	c.(229-231)tttfs	p.F77fs	ZHX1_ENST00000395571.3_Frame_Shift_Ins_p.F77fs|ZHX1_ENST00000522595.1_5'UTR|ZHX1_ENST00000297857.2_Frame_Shift_Ins_p.F77fs|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	77					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGGAGTTTGAAAAGTACAATA	0.332													False	0	True	8:124267956	0	TGGTAGTTTTGTT	124267957	-	TGGTAGTTTTGTT	124267956	7	5	90	1	0	1	1	0	0	0	0	0	17758	243	9	0	2394	0	ZHX1	8	124267956	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	56903665	124267956	22096066	150	28796											
PTK2	5747	broad.mit.edu	37	chr8	141774446	141774447	+	Frame_Shift_Ins	INS	-	-	TAAAAGTTATTGATACTTACTG													acatctgacctcctggtattINStcatataattaaagtaggca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:141774446_141774447insTAAAAGTTATTGATACTTACTG	ENST00000519465.1	-	1	175_176	c.4_5insCAGTAAGTATCAATAACTTTTA	c.(4-6)aaafs	p.K2fs	PTK2_ENST00000522684.1_Intron|PTK2_ENST00000520151.1_Frame_Shift_Ins_p.K2fs|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000519419.1_Intron			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	0					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTCCTGGTATTTCATATAATTA	0.332													False	0	True	8:141774446	0	TAAAAGTTATTGATACTTACTG	141774447	-	TAAAAGTTATTGATACTTACTG	141774446	7	5	90	1	0	1	1	0	0	0	0	0	12839	1856	64	0		0	PTK2	8	141774446	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	17506490	141774446	4589576	151	28797											
SMARCA2	6595	broad.mit.edu	37	chr9	2161789	2161790	+	Frame_Shift_Ins	INS	-	-	TATTTAT													cctgcaaaagaagatgtggaINSaaaagctaagaagagaagag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:2161789_2161790insTATTTAT	ENST00000382203.1	+	28	4294_4295	c.4085_4086insTATTTAT	c.(4084-4089)gaaaaafs	p.E1362fs	SMARCA2_ENST00000382186.1_Frame_Shift_Ins_p.E26fs|SMARCA2_ENST00000382185.1_Frame_Shift_Ins_p.E26fs|SMARCA2_ENST00000349721.2_Frame_Shift_Ins_p.E1362fs|SMARCA2_ENST00000357248.2_Frame_Shift_Ins_p.E1362fs|SMARCA2_ENST00000302401.3_Frame_Shift_Ins_p.E68fs|SMARCA2_ENST00000324954.5_Frame_Shift_Ins_p.E26fs|SMARCA2_ENST00000382194.1_Frame_Shift_Ins_p.E1362fs			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1362					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAAGATGTGGAAAAAGCTAAGA	0.446													False	0	True	9:2161789	0	TATTTAT	2161790	-	TATTTAT	2161789	7	5	90	1	0	1	1	0	0	0	0	0	14849	246	9	0	4191	0	SMARCA2	9	2161789	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		2161789	139051642	152	28798											
JAK2	3717	broad.mit.edu	37	chr9	5089799	5089800	+	In_Frame_Ins	INS	-	-	ACAAATAAATTTTATAATTATATA													gagactttgaaagggaaattINSgaaatcctgaaatccctaca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:5089799_5089800insACAAATAAATTTTATAATTATATA	ENST00000381652.3	+	20	3191_3192	c.2697_2698insACAAATAAATTTTATAATTATATA	c.(2698-2700)gaa>ACAAATAAATTTTATAATTATATAgaa	p.899_900insTNKFYNYI	JAK2_ENST00000544510.1_In_Frame_Ins_p.750_751insTNKFYNYI|JAK2_ENST00000539801.1_In_Frame_Ins_p.899_900insTNKFYNYI	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	899	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AAAGGGAAATTGAAATCCTGAA	0.441		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				False	0	True	9:5089799	0	ACAAATAAATTTTATAATTATATA	5089800	-	ACAAATAAATTTTATAATTATATA	5089799	7	5	90	1	0	1	1	0	0	0	0	0	7988	1800	63	0	2767	0	JAK2	9	5089799	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2928010	5089799	136123632	153	28799											
NFX1	0	broad.mit.edu	37	chr9	33318969	33318970	+	Frame_Shift_Ins	INS	-	-	AGCATACTTGAAGAGAAAATTTCAAAAACAAAAC													ccctcagccctgccagcaatINSgcccacggctcccccagctg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:33318969_33318970insAGCATACTTGAAGAGAAAATTTCAAAAACAAAAC	ENST00000379540.3	+	9	1812_1813	c.1750_1751insAGCATACTTGAAGAGAAAATTTCAAAAACAAAAC	c.(1750-1752)tgcfs	p.C584fs	NFX1_ENST00000379521.4_Frame_Shift_Ins_p.C584fs|NFX1_ENST00000318524.6_Frame_Shift_Ins_p.C584fs	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	584					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CTGCCAGCAATGCCCACGGCTC	0.5													False	0	True	9:33318969	0	AGCATACTTGAAGAGAAAATTTCAAAAACAAAAC	33318970	-	AGCATACTTGAAGAGAAAATTTCAAAAACAAAAC	33318969	7	5	90	1	0	1	1	0	0	0	0	0	10455	1464	51	0	1784	0	NFX1	9	33318969	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	28229170	33318969	107894462	154	28800											
TLN1	7094	broad.mit.edu	37	chr9	35699041	35699041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactgaccttgggtttggcCcggggcttcagctgctctag	15	11	2	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:35699041C>T	ENST00000314888.9	-	52	7340	c.6987G>A	c.(6985-6987)cgG>cgA	p.R2329R	TLN1_ENST00000540444.1_Silent_p.R2217R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2329	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGTTTGGCCCGGGGCTTCA	0.567													False	0	True	9:35699041	0	T	35699041	C	T	35699041	2	4	90	1	0	0	0	0	0	0	0	1	16029	610	22	2		2	TLN1	9	35699041	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	2380072	35699041	105514390	155	28801											
PRUNE2	158471	broad.mit.edu	37	chr9	79325846	79325846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctcccacggggctgtcGtcactgaggaaaacagagct	11	13	2	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:79325846G>A	ENST00000428286.1	-	8	1467	c.267C>T	c.(265-267)gaC>gaT	p.D89D	PRUNE2_ENST00000376718.3_Silent_p.D448D			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	448					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGGGGCTGTCGTCACTGAGGA	0.602													False	0	False	9:79325846	0	A	79325846	G	A	79325846	2	1	90	1	0	0	0	0	0	0	0	1	12717	1136	40	1		1	PRUNE2	9	79325846	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	43626805	79325846	61887585	156	28802											
VPS13A	23230	broad.mit.edu	37	chr9	79981770	79981771	+	Frame_Shift_Ins	INS	-	-	A													ggtgccacactgacagatgtINSacaagatgtagtttttaagt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:79981770_79981771insA	ENST00000360280.3	+	61	8713_8714	c.8453_8454insA	c.(8452-8457)gtacaafs	p.Q2819fs	VPS13A_ENST00000357409.5_Frame_Shift_Ins_p.Q2819fs|VPS13A_ENST00000376634.4_Frame_Shift_Ins_p.Q2819fs|VPS13A_ENST00000376636.3_Frame_Shift_Ins_p.Q2780fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2819					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGACAGATGTACAAGATGTAG	0.307													False	1	False	9:79981770	0	A	79981771	-	A	79981770	7	5	90	1	0	1	1	0	0	0	0	0	17273	1638	57	0	8695	0	VPS13A	9	79981770	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	655924	79981770	61231661	157	28803	308	2									
VPS13A	23230	broad.mit.edu	37	chr9	79981772	79981773	+	In_Frame_Ins	INS	-	-	TAAAAAGATAAAGAGATA													tgccacactgacagatgtacINSaagatgtagtttttaagtat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:79981772_79981773insTAAAAAGATAAAGAGATA	ENST00000360280.3	+	61	8715_8716	c.8455_8456insTAAAAAGATAAAGAGATA	c.(8455-8457)caa>cTAAAAAGATAAAGAGATAaa	p.2819_2819Q>LKR*RDK	VPS13A_ENST00000357409.5_In_Frame_Ins_p.2819_2819Q>LKR*RDK|VPS13A_ENST00000376634.4_In_Frame_Ins_p.2819_2819Q>LKR*RDK|VPS13A_ENST00000376636.3_In_Frame_Ins_p.2780_2780Q>LKR*RDK	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2819					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GACAGATGTACAAGATGTAGTT	0.302													False	0	False	9:79981772	0	TAAAAAGATAAAGAGATA	79981773	-	TAAAAAGATAAAGAGATA	79981772	7	5	90	1	0	1	1	0	0	0	0	0	17273	479	17	0	8697	0	VPS13A	9	79981772	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	79981772	61231659	158	28804	308	2									
OR13C2	392376	broad.mit.edu	37	chr9	107367665	107367666	+	Frame_Shift_Del	DEL	GC	GC	-													ttctgaaaggaagctcactaGcgtggagggaatagaggtgg					rs143760725	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:107367665_107367666delGC	ENST00000542196.1	-	1	285_286	c.243_244delGC	c.(241-246)acgctafs	p.L82fs		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AAGCTCACTAGCGTGGAGGGAA	0.515													False	1	False	9:107367665	0	-	107367666	GC	-	107367665	7	5	90	1	0	1	0	1	0	0	0	0	11002	962	34	0	715	0	OR13C2	9	107367665	Frame_Shift_Del	DEL	GC	TCGA-IB-7885-01A-11D-2154-08	27385893	107367665	33845766	159	28805											
TNC	3371	broad.mit.edu	37	chr9	117846544	117846545	+	Frame_Shift_Ins	INS	-	-	AGAGCCTAGAATTAAGTCCATAGAAT													gttctccaggatggcaaataINScacggataaagtactccaca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:117846544_117846545insAGAGCCTAGAATTAAGTCCATAGAAT	ENST00000341037.4	-	3	2202_2203	c.2074_2075insATTCTATGGACTTAATTCTAGGCTCT	c.(2074-2076)gtafs	p.V692fs	TNC_ENST00000537320.1_Frame_Shift_Ins_p.V692fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.V692fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.V692fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.V692fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.V692fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.V692fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.V692fs|TNC_ENST00000350763.4_Frame_Shift_Ins_p.V692fs			P24821	TENA_HUMAN	tenascin C	692	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GATGGCAAATACACGGATAAAG	0.569													False	0	False	9:117846544	0	AGAGCCTAGAATTAAGTCCATAGAAT	117846545	-	AGAGCCTAGAATTAAGTCCATAGAAT	117846544	7	5	90	1	0	1	1	0	0	0	0	0	16352	391	14	0	4630	0	TNC	9	117846544	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	10478879	117846544	23366887	160	28806											
PSMB7	5695	broad.mit.edu	37	chr9	127177168	127177169	+	In_Frame_Ins	INS	-	-	CGATTAGTGCTGGACTGGTACCCTTGTAGAAGCCACGGAAGCCCACCTGGGAGT													ccagttttccggacctttggINSaagcttgtatcccctctttg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:127177168_127177169insCGATTAGTGCTGGACTGGTACCCTTGTAGAAGCCACGGAAGCCCACCTGGGAGT	ENST00000259457.3	-	2	121_122	c.108_109insACTCCCAGGTGGGCTTCCGTGGCTTCTACAAGGGTACCAGTCCAGCACTAATCG	c.(106-111)cttcca>cttACTCCCAGGTGGGCTTCCGTGGCTTCTACAAGGGTACCAGTCCAGCACTAATCGcca	p.36_37LP>LTPRWASVASTRVPVQH*SP	PSMB7_ENST00000498485.1_5'UTR|PSMB7_ENST00000536392.1_In_Frame_Ins_p.36_37LP>LTPRWASVASTRVPVQH*SP	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	36					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						CGGACCTTTGGAAGCTTGTATC	0.52													False	0	False	9:127177168	0	CGATTAGTGCTGGACTGGTACCCTTGTAGAAGCCACGGAAGCCCACCTGGGAGT	127177169	-	CGATTAGTGCTGGACTGGTACCCTTGTAGAAGCCACGGAAGCCCACCTGGGAGT	127177168	7	5	90	1	0	1	1	0	0	0	0	0	12758	1174	41	0	752	0	PSMB7	9	127177168	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	9330624	127177168	14036263	161	28807											
GOLGA1	2800	broad.mit.edu	37	chr9	127650629	127650630	+	In_Frame_Ins	INS	-	-	ATCTTC													accatttggtgttcttcctgINScagttggaagctggaacaca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:127650629_127650630insATCTTC	ENST00000373555.4	-	19	2140_2141	c.1807_1808insGAAGAT	c.(1807-1809)gca>gGAAGATca	p.603_603A>GRS		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	603						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGTTCTTCCTGCAGTTGGAAGC	0.535													False	0	False	9:127650629	0	ATCTTC	127650630	-	ATCTTC	127650629	7	5	90	1	0	1	1	0	0	0	0	0	6596	1319	46	0	515	0	GOLGA1	9	127650629	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	473461	127650629	13562802	162	28808											
FCN2	2220	broad.mit.edu	37	chr9	137772750	137772750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcctgggctctccaggCggcagacacctgtccaggta	13	14	1	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:137772750C>T	ENST00000350339.2	+	1	97	c.83C>T	c.(82-84)gCg>gTg	p.A28V	FCN2_ENST00000291744.6_Missense_Mutation_p.A28V	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	28					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCTCTCCAGGCGGCAGACACC	0.617													False	0	False	9:137772750	0	T	137772750	C	T	137772750	3	4	90	1	0	0	0	0	1	0	0	0	5832	768	27	1	85	1	FCN2	9	137772750	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	10122121	137772750	3440681	163	28809											
PTPLA	9200	broad.mit.edu	37	chr10	17636332	17636333	+	In_Frame_Ins	INS	-	-	GTATATACTTATTAGTACTTTGATTTGACATATGATGTG													caaggcagcgtatattgtaaINSgaagttcaccagcaactcca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:17636332_17636333insGTATATACTTATTAGTACTTTGATTTGACATATGATGTG	ENST00000361271.3	-	6	692_693	c.655_656insCACATCATATGTCAAATCAAAGTACTAATAAGTATATAC	c.(655-657)ctt>cCACATCATATGTCAAATCAAAGTACTAATAAGTATATACtt	p.218_219insPHHMSNQSTNKYI		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	218					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GTATATTGTAAGAAGTTCACCA	0.307													False	0	False	10:17636332	0	GTATATACTTATTAGTACTTTGATTTGACATATGATGTG	17636333	-	GTATATACTTATTAGTACTTTGATTTGACATATGATGTG	17636332	7	5	90	1	0	1	1	0	0	0	0	0	12851	72	3	0	218	0	PTPLA	10	17636332	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		17636332	117898415	164	28810											
YME1L1	10730	broad.mit.edu	37	chr10	27436497	27436498	+	Frame_Shift_Ins	INS	-	-	AGTCTAGTTTCTTTGTTTGTTTGTTTTATCA													gtccaagctcttcttcatccINStttttgctggctccatgaac							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:27436497_27436498insAGTCTAGTTTCTTTGTTTGTTTGTTTTATCA	ENST00000326799.3	-	3	416_417	c.268_269insTGATAAAACAAACAAACAAAGAAACTAGACT	c.(268-270)aggfs	p.R90fs	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000477432.1_Frame_Shift_Ins_p.R90fs|YME1L1_ENST00000376016.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	90					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						cttcttcatcctttttgctggc	0.45													False	0	True	10:27436497	0	AGTCTAGTTTCTTTGTTTGTTTGTTTTATCA	27436498	-	AGTCTAGTTTCTTTGTTTGTTTGTTTTATCA	27436497	7	5	90	1	0	1	1	0	0	0	0	0	17571	681	24	0	2124	0	YME1L1	10	27436497	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	9800165	27436497	108098250	165	28811											
C10orf10	11067	broad.mit.edu	37	chr10	45472968	45472969	+	Frame_Shift_Ins	INS	-	-	AAAGGGAAATGCTTTT													cttcttaggtcagagctctgINSctgcccatcctgcggtggtc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:45472968_45472969insAAAGGGAAATGCTTTT	ENST00000298295.3	-	2	727_728	c.510_511insAAAAGCATTTCCCTTT	c.(508-513)cagcagfs	p.Q171fs	C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000472561.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	171						mitochondrion				lung(1)	1						TCAGAGCTCTGCTGCCCATCCT	0.639													False	0	False	10:45472968	0	AAAGGGAAATGCTTTT	45472969	-	AAAGGGAAATGCTTTT	45472968	7	5	90	1	0	1	1	0	0	0	0	0	1587	1328	46	0	131	0	C10orf10	10	45472968	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	18036471	45472968	90061779	166	28812											
ANK3	288	broad.mit.edu	37	chr10	62149348	62149349	+	Translation_Start_Site	INS	-	-	TATGCCAGAGC													cggcttccttgtaaaaggtgINSatatcctcaggcacctctaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:62149348_62149349insTATGCCAGAGC	ENST00000280772.1	-	0	139_140				ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTAAAAGGTGATATCCTCAGG	0.406													False	0	False	10:62149348	0	TATGCCAGAGC	62149349	-	TATGCCAGAGC	62149348	6	5	90	1	0	1	1	0	0	0	0	0	622	1305	45	0		0	ANK3	10	62149348	Translation_Start_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	16676380	62149348	73385399	167	28813											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648928	62648929	+	Frame_Shift_Ins	INS	-	-	AGAGTGT													tttctgggggcaaaatatccINScctctctttatgggcctgaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:62648928_62648929insAGAGTGT	ENST00000337910.5	-	6	834_835	c.497_498insACACTCT	c.(496-498)gggfs	p.-166fs	RHOBTB1_ENST00000357917.4_Frame_Shift_Ins_p.-166fs	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GCAAAATATCCCCTCTCTTTAT	0.396													False	0	True	10:62648928	0	AGAGTGT	62648929	-	AGAGTGT	62648928	7	5	90	1	0	1	1	0	0	0	0	0	13412	610	22	0	1616	0	RHOBTB1	10	62648928	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	499580	62648928	72885819	168	28814	309	2									
RHOBTB1	9886	broad.mit.edu	37	chr10	62648930	62648931	+	Frame_Shift_Ins	INS	-	-	T													tctgggggcaaaatatccccINStctctttatgggcctgaaat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:62648930_62648931insT	ENST00000337910.5	-	6	832_833	c.495_496insA	c.(493-498)agagggfs	p.G166fs	RHOBTB1_ENST00000357917.4_Frame_Shift_Ins_p.G166fs	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	166	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AAAATATCCCCTCTCTTTATGG	0.391													False	1	True	10:62648930	0	T	62648931	-	T	62648930	7	5	90	1	0	1	1	0	0	0	0	0	13412	681	24	0	1618	0	RHOBTB1	10	62648930	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	62648930	72885817	169	28815	309	2									
JMJD1C	221037	broad.mit.edu	37	chr10	64973791	64973792	+	Frame_Shift_Ins	INS	-	-	CCATTACCTACCA													gtgcaggatctctgtaaactINSgtaaaatgctcatttttatc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:64973791_64973792insCCATTACCTACCA	ENST00000399262.2	-	8	2353_2354	c.2135_2136insTGGTAGGTAATGG	c.(2134-2136)acafs	p.-712fs	JMJD1C_ENST00000399251.1_Frame_Shift_Ins_p.-493fs|JMJD1C_ENST00000542921.1_Frame_Shift_Ins_p.-530fs|JMJD1C_ENST00000402544.1_Frame_Shift_Ins_p.-493fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C						blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.T493I(1)|p.T712I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTCTGTAAACTGTAAAATGCTC	0.381													False	0	True	10:64973791	0	CCATTACCTACCA	64973792	-	CCATTACCTACCA	64973791	7	5	90	1	0	1	1	0	0	0	0	0	8000	1567	55	0	5562	0	JMJD1C	10	64973791	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2324861	64973791	70560956	170	28816											
TCTN3	26123	broad.mit.edu	37	chr10	97424030	97424031	+	Frame_Shift_Ins	INS	-	-	CCTAGAGACTATGTGAAGAAAAGAAAATAATC													aagttcacaagagttgtcaaINSagatacttctgtaacttgct							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:97424030_97424031insCCTAGAGACTATGTGAAGAAAAGAAAATAATC	ENST00000371217.4	-	14	1845_1846	c.1656_1657insGATTATTTTCTTTTCTTCACATAGTCTCTAGG	c.(1654-1659)tctttgfs	p.L553fs	TCTN3_ENST00000430368.1_Frame_Shift_Ins_p.L392fs|TCTN3_ENST00000265993.8_Frame_Shift_Ins_p.L540fs			Q6NUS6	TECT3_HUMAN	tectonic family member 3	540					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		AGAGTTGTCAAAGATACTTCTG	0.45													False	0	True	10:97424030	0	CCTAGAGACTATGTGAAGAAAAGAAAATAATC	97424031	-	CCTAGAGACTATGTGAAGAAAAGAAAATAATC	97424030	7	5	90	1	0	1	1	0	0	0	0	0	15806	11	1	0	209	0	TCTN3	10	97424030	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	32450239	97424030	38110717	171	28817											
TLL2	7093	broad.mit.edu	37	chr10	98273378	98273379	+	Frame_Shift_Ins	INS	-	-	CG													ctccccgagtcccccggcgcINScgcgaggcagcggcagcagc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:98273378_98273379insCG	ENST00000357947.3	-	1	289_290	c.64_65insCG	c.(64-66)ggcfs	p.G22fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	22					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCCCCCGGCGCCGCGAGGCAGC	0.728													False	2	False	10:98273378	0	CG	98273379	-	CG	98273378	7	5	90	1	0	1	1	0	0	0	0	0	16028	739	26	0	3066	0	TLL2	10	98273378	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	849348	98273378	37261369	172	28818											
PGAM1	5223	broad.mit.edu	37	chr10	99192225	99192226	+	Frame_Shift_Ins	INS	-	-	GACTTTGACAGAAATTAAAATAAGACACCCTTTCTGATCTTTAT													gcagtttctgggggatgaagINSagacggtgcgcaaagccatg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:99192225_99192226insGACTTTGACAGAAATTAAAATAAGACACCCTTTCTGATCTTTAT	ENST00000334828.5	+	4	857_858	c.709_710insGACTTTGACAGAAATTAAAATAAGACACCCTTTCTGATCTTTAT	c.(709-711)gagfs	p.E237fs	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	237					gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		GGGGGATGAAGAGACGGTGCGC	0.574													False	0	False	10:99192225	0	GACTTTGACAGAAATTAAAATAAGACACCCTTTCTGATCTTTAT	99192226	-	GACTTTGACAGAAATTAAAATAAGACACCCTTTCTGATCTTTAT	99192225	7	5	90	1	0	1	1	0	0	0	0	0	11842	943	33	0	723	0	PGAM1	10	99192225	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	918847	99192225	36342522	173	28819											
CUTC	51076	broad.mit.edu	37	chr10	101503000	101503001	+	In_Frame_Ins	INS	-	-	GCT													tttttgtattcagatcgtgaINSaattgaggtgatgaaggctg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:101503000_101503001insGCT	ENST00000370476.5	+	4	413_414	c.284_285insGCT	c.(283-288)gaaatt>gaGCTaatt	p.95_96EI>ELI	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	95					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		TCAGATCGTGAAATTGAGGTGA	0.441													False	0	True	10:101503000	0	GCT	101503001	-	GCT	101503000	7	5	90	1	0	1	1	0	0	0	0	0	4088	246	9	0	298	0	CUTC	10	101503000	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2310775	101503000	34031747	174	28820	310	2									
CUTC	51076	broad.mit.edu	37	chr10	101503002	101503003	+	Frame_Shift_Ins	INS	-	-	AAGCCAATGATATATTATTGGTCAT													tttgtattcagatcgtgaaaINSttgaggtgatgaaggctgac							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:101503002_101503003insAAGCCAATGATATATTATTGGTCAT	ENST00000370476.5	+	4	415_416	c.286_287insAAGCCAATGATATATTATTGGTCAT	c.(286-288)attfs	p.-95fs	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter						copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		AGATCGTGAAATTGAGGTGATG	0.446													False	0	True	10:101503002	0	AAGCCAATGATATATTATTGGTCAT	101503003	-	AAGCCAATGATATATTATTGGTCAT	101503002	7	5	90	1	0	1	1	0	0	0	0	0	4088	101	4	0	300	0	CUTC	10	101503002	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	101503002	34031745	175	28821	310	2									
SMC3	9126	broad.mit.edu	37	chr10	112361496	112361497	+	Frame_Shift_Ins	INS	-	-	TACCTATAAAGCCAGTGTTATATGTTGAGTATAG													agaacatatggatgctataaINSatcatgatactaaagaactg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:112361496_112361497insTACCTATAAAGCCAGTGTTATATGTTGAGTATAG	ENST00000361804.4	+	24	2872_2873	c.2746_2747insTACCTATAAAGCCAGTGTTATATGTTGAGTATAG	c.(2746-2748)aatfs	p.N916fs		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	916					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGATGCTATAAATCATGATACT	0.356													False	0	True	10:112361496	0	TACCTATAAAGCCAGTGTTATATGTTGAGTATAG	112361497	-	TACCTATAAAGCCAGTGTTATATGTTGAGTATAG	112361496	7	5	90	1	0	1	1	0	0	0	0	0	14864	14	1	0	2840	0	SMC3	10	112361496	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	10858494	112361496	23173251	176	28822											
NRAP	4892	broad.mit.edu	37	chr10	115374691	115374692	+	In_Frame_Ins	INS	-	-	AATTCCCTG													ctcgaagtttgctccaggatINStccttataacgcgtctgtcg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:115374691_115374692insAATTCCCTG	ENST00000359988.3	-	28	3336_3337	c.3092_3093insCAGGGAATT	c.(3091-3093)gaa>gaCAGGGAATTa	p.1031_1031E>DREL	NRAP_ENST00000369360.3_In_Frame_Ins_p.1004_1004E>DREL|NRAP_ENST00000360478.3_In_Frame_Ins_p.996_996E>DREL|NRAP_ENST00000369358.4_In_Frame_Ins_p.1039_1039E>DREL	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1031						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCTCCAGGATTCCTTATAACG	0.46													False	0	False	10:115374691	0	AATTCCCTG	115374692	-	AATTCCCTG	115374691	7	5	90	1	0	1	1	0	0	0	0	0	10706	1490	52	0	2159	0	NRAP	10	115374691	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	3013195	115374691	20160056	177	28823											
OR51B2	79345	broad.mit.edu	37	chr11	5344828	5344829	+	In_Frame_Ins	INS	-	-	TATCTAAACATAGGTTTA													atacaggtattgagggctttINSggctctctcttcaccagaag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:5344828_5344829insTATCTAAACATAGGTTTA	ENST00000328813.2	-	1	753_754	c.699_700insTAAACCTATGTTTAGATA	c.(697-702)gccaaa>gccTAAACCTATGTTTAGATAaaa	p.233_234AK>A*TYV*IK	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGAGGGCTTTGGCTCTCTCTT	0.386													False	0	True	11:5344828	0	TATCTAAACATAGGTTTA	5344829	-	TATCTAAACATAGGTTTA	5344828	7	5	90	1	0	1	1	0	0	0	0	0	11157	1821	63	0	242	0	OR51B2	11	5344828	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		5344828	129661688	178	28824											
MRVI1	10335	broad.mit.edu	37	chr11	10645395	10645395	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagttctgatttctcatcagGatgtgctcctttgtggtaaa	9	7	3	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:10645395G>T	ENST00000547195.1	-	9	1604	c.1104C>A	c.(1102-1104)atC>atA	p.I368I	MRVI1_ENST00000545852.1_Silent_p.I144I|MRVI1_ENST00000527509.2_Silent_p.I368I|MRVI1_ENST00000421747.1_Silent_p.I450I|MRVI1_ENST00000436272.1_Silent_p.I432I|MRVI1_ENST00000541483.1_Silent_p.I253I|MRVI1_ENST00000558540.1_Silent_p.I144I|MRVI1_ENST00000531107.1_Silent_p.I451I|MRVI1_ENST00000552103.1_Silent_p.I368I|MRVI1_ENST00000423302.2_Silent_p.I459I|MRVI1_ENST00000424001.1_Silent_p.I144I|MRVI1_ENST00000534266.2_Silent_p.I144I	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	432					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCTCATCAGGATGTGCTCCT	0.483													False	0	False	11:10645395	0	T	10645395	G	T	10645395	2	4	90	1	0	0	0	0	0	0	0	1	9920	1164	41	3		3	MRVI1	11	10645395	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	5300567	10645395	124361121	179	28825											
FAR1	84188	broad.mit.edu	37	chr11	13732418	13732419	+	Splice_Site	INS	-	-	A													ttggaaagaaccttttccagINStaagttgttagaaaccttta							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:13732418_13732419insA	ENST00000354817.3	+	5	867		c.e5+1		FAR1_ENST00000527202.1_Splice_Site	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1						ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ACCTTTTCCAGTAAGTTGTTAG	0.351													False	0	False	11:13732418	0	A	13732419	-	A	13732418	8	5	90	1	0	1	1	0	0	0	1	0	5714	1043	36	0	738	0	FAR1	11	13732418	Splice_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	3087023	13732418	121274098	180	28826	311	2									
FAR1	84188	broad.mit.edu	37	chr11	13732419	13732420	+	Splice_Site	INS	-	-	ATTTTACTATAA													tggaaagaaccttttccagtINSaagttgttagaaacctttat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:13732419_13732420insATTTTACTATAA	ENST00000354817.3	+	5	867		c.e5+2		FAR1_ENST00000527202.1_Splice_Site	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1						ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CCTTTTCCAGTAAGTTGTTAGA	0.351													False	0	False	11:13732419	0	ATTTTACTATAA	13732420	-	ATTTTACTATAA	13732419	8	5	90	1	0	1	1	0	0	0	1	0	5714	1652	57	0	739	0	FAR1	11	13732419	Splice_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	1	13732419	121274097	181	28827	311	2									
HIPK3	10114	broad.mit.edu	37	chr11	33373261	33373261	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagagcacttttgtggaggAcactcatgaaaacacagaat	10	7	1	3			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:33373261A>T	ENST00000303296.4	+	15	3220	c.2915A>T	c.(2914-2916)gAc>gTc	p.D972V	HIPK3_ENST00000525975.1_Missense_Mutation_p.D951V|HIPK3_ENST00000379016.3_Missense_Mutation_p.D951V|HIPK3_ENST00000456517.1_Missense_Mutation_p.D951V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	972	Required for localization to nuclear speckles (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTTGTGGAGGACACTCATGAA	0.478													False	0	False	11:33373261	0	T	33373261	A	T	33373261	3	4	90	1	0	0	0	0	1	0	0	0	7165	275	10	5	2969	5	HIPK3	11	33373261	Missense_Mutation	SNP	A	TCGA-IB-7885-01A-11D-2154-08	19640842	33373261	101633255	182	28828											
CAPRIN1	4076	broad.mit.edu	37	chr11	34107957	34107957	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgccccagctggtttgccctCcaggttagtagtggtacatt	11	11	0	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:34107957C>G	ENST00000341394.4	+	11	1417	c.1228C>G	c.(1228-1230)Cca>Gca	p.P410A	CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P329A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P410A|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P410A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	410					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGTTTGCCCTCCAGGTTAGTA	0.363													False	0	False	11:34107957	0	G	34107957	C	G	34107957	3	3	90	1	0	0	0	0	1	0	0	0	2655	855	30	5	1266	5	CAPRIN1	11	34107957	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	734696	34107957	100898559	183	28829											
LRRC4C	57689	broad.mit.edu	37	chr11	40136146	40136147	+	In_Frame_Ins	INS	-	-	TACACAGTT													atccacattaataatttcaaINScagtccttgttggggcgtga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:40136146_40136147insTACACAGTT	ENST00000278198.2	-	2	3659_3660	c.1696_1697insAACTGTGTA	c.(1696-1698)gtt>gAACTGTGTAtt	p.566_566V>ELCI	LRRC4C_ENST00000527150.1_In_Frame_Ins_p.566_566V>ELCI|LRRC4C_ENST00000528697.1_In_Frame_Ins_p.566_566V>ELCI|LRRC4C_ENST00000530763.1_In_Frame_Ins_p.566_566V>ELCI			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	566					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AATAATTTCAACAGTCCTTGTT	0.475													False	0	False	11:40136146	0	TACACAGTT	40136147	-	TACACAGTT	40136146	7	5	90	1	0	1	1	0	0	0	0	0	9070	43	2	0	229	0	LRRC4C	11	40136146	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	6028189	40136146	94870370	184	28830											
PACSIN3	29763	broad.mit.edu	37	chr11	47203984	47203984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccccctccactttcgggCccagtcagccaactgctggg	11	17	1	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:47203984C>T	ENST00000539589.1	-	4	523	c.181G>A	c.(181-183)Gcc>Acc	p.A61T	PACSIN3_ENST00000298838.6_Missense_Mutation_p.A61T	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	61	FCH.		A -> V (in dbSNP:rs7106654).		endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CACTTTCGGGCCCAGTCAGCC	0.677													False	0	True	11:47203984	0	T	47203984	C	T	47203984	3	4	90	1	0	0	0	0	1	0	0	0	11444	739	26	2	1125	2	PACSIN3	11	47203984	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	7067838	47203984	87802532	185	28831											
OR5I1	10798	broad.mit.edu	37	chr11	55703516	55703517	+	Frame_Shift_Ins	INS	-	-	AGCT													gcgacatagcgatcataggcINScatggcggccaggatgaagg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:55703516_55703517insAGCT	ENST00000301532.3	-	1	359_360	c.360_361insAGCT	c.(358-363)atggccfs	p.A121fs		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGATCATAGGCCATGGCGGCCA	0.446													False	0	False	11:55703516	0	AGCT	55703517	-	AGCT	55703516	7	5	90	1	0	1	1	0	0	0	0	0	11232	739	26	0	586	0	OR5I1	11	55703516	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	8499532	55703516	79303000	186	28832											
OR5B17	219965	broad.mit.edu	37	chr11	58126522	58126523	+	Frame_Shift_Ins	INS	-	-	CAAAGGTTATA													caagcaggatgaattcactcINSacctctgtattattctccat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:58126522_58126523insCAAAGGTTATA	ENST00000357377.3	-	1	19_20	c.20_21insTATAACCTTTG	c.(19-21)gtgfs	p.-7fs		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAATTCACTCACCTCTGTATT	0.406													False	0	True	11:58126522	0	CAAAGGTTATA	58126523	-	CAAAGGTTATA	58126522	7	5	90	1	0	1	1	0	0	0	0	0	11217	813	29	0	925	0	OR5B17	11	58126522	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2423006	58126522	76879994	187	28833											
ZFP91	80829	broad.mit.edu	37	chr11	58347089	58347089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagggcaagaagagtccgcGactcctgtgagtaacagtct	12	10	2	3			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:58347089G>A	ENST00000316059.6	+	1	506	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R112Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	112					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAGAGTCCGCGACTCCTGTGA	0.672											OREG0020976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:58347089	0	A	58347089	G	A	58347089	3	1	90	1	0	0	0	0	1	0	0	0	17738	1058	37	1	337	1	ZFP91	11	58347089	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	220567	58347089	76659427	188	28834											
MYO7A	4647	broad.mit.edu	37	chr11	76918417	76918417	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcaagtcctcagagggAttcagcctctttgtcaaaat	7	12	5	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:76918417A>G	ENST00000409709.3	+	42	6098	c.5826A>G	c.(5824-5826)ggA>ggG	p.G1942G	MYO7A_ENST00000458637.2_Silent_p.G1904G|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Silent_p.G1893G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1942	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTCAGAGGGATTCAGCCTCT	0.572													False	0	True	11:76918417	0	G	76918417	A	G	76918417	2	3	90	1	0	0	0	0	0	0	0	1	10149	320	12	4		4	MYO7A	11	76918417	Silent	SNP	A	TCGA-IB-7885-01A-11D-2154-08	18571328	76918417	58088099	189	28835											
ALG8	79053	broad.mit.edu	37	chr11	77835185	77835186	+	Frame_Shift_Ins	INS	-	-	GTACAGTGTTAAGTAGTATTAAC													agcatttcttgatcaaaataINStttggcaacatgtgacagga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:77835185_77835186insGTACAGTGTTAAGTAGTATTAAC	ENST00000376156.3	-	3	252_253	c.249_250insGTTAATACTACTTAACACTGTAC	c.(247-252)aaatatfs	p.Y84fs	ALG8_ENST00000299626.5_Frame_Shift_Ins_p.Y84fs|ALG8_ENST00000532552.2_Intron	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	84					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TGATCAAAATATTTGGCAACAT	0.381													False	0	True	11:77835185	0	GTACAGTGTTAAGTAGTATTAAC	77835186	-	GTACAGTGTTAAGTAGTATTAAC	77835185	7	5	90	1	0	1	1	0	0	0	0	0	523	449	16	0	1433	0	ALG8	11	77835185	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	916768	77835185	57171331	190	28836											
USP35	57558	broad.mit.edu	37	chr11	77921262	77921263	+	Frame_Shift_Ins	INS	-	-	TCCTCCTCCT													actgcgagtcgtgtgcctccINSctgcaggatgccgagaaggt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:77921262_77921263insTCCTCCTCCT	ENST00000529308.1	+	10	2622_2623	c.2361_2362insTCCTCCTCCT	c.(2362-2364)ctgfs	p.L788fs	USP35_ENST00000530267.1_Frame_Shift_Ins_p.L356fs|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Frame_Shift_Ins_p.L519fs|USP35_ENST00000441408.2_Frame_Shift_Ins_p.L374fs	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	788					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CGTGTGCCTCCCTGCAGGATGC	0.624													False	0	True	11:77921262	0	TCCTCCTCCT	77921263	-	TCCTCCTCCT	77921262	7	5	90	1	0	1	1	0	0	0	0	0	17150	610	22	0	2395	0	USP35	11	77921262	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	86077	77921262	57085254	191	28837											
CCDC83	220047	broad.mit.edu	37	chr11	85630478	85630479	+	Frame_Shift_Ins	INS	-	-	ACCAGCTTGATAGATTAGGCTTTCTTTATTA													attttcaagagaaggaaattINSccagtcaaactctataaaga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:85630478_85630479insACCAGCTTGATAGATTAGGCTTTCTTTATTA	ENST00000280245.4	+	12	1772_1773	c.1260_1261insACCAGCTTGATAGATTAGGCTTTCTTTATTA	c.(1261-1263)ccafs	p.P421fs	CCDC83_ENST00000342404.3_Frame_Shift_Ins_p.P390fs|CCDC83_ENST00000376067.1_Frame_Shift_Ins_p.P290fs|RP11-90K17.2_ENST00000531414.1_RNA	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	390										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGAAGGAAATTCCAGTCAAACT	0.421													False	0	False	11:85630478	0	ACCAGCTTGATAGATTAGGCTTTCTTTATTA	85630479	-	ACCAGCTTGATAGATTAGGCTTTCTTTATTA	85630478	7	5	90	1	0	1	1	0	0	0	0	0	2878	1771	62	0	1302	0	CCDC83	11	85630478	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	7709216	85630478	49376038	192	28838											
FAT3	120114	broad.mit.edu	37	chr11	92086172	92086173	+	Frame_Shift_Ins	INS	-	-	ATACCTATTCTTTTCATCA													atggagcgaatggagagatcINSgaatctgtttccattgtggc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:92086172_92086173insATACCTATTCTTTTCATCA	ENST00000525166.1	+	1	466_467	c.444_445insATACCTATTCTTTTCATCA	c.(445-447)gaafs	p.E149fs	FAT3_ENST00000298047.6_Frame_Shift_Ins_p.E299fs|FAT3_ENST00000541502.1_Frame_Shift_Ins_p.E299fs|FAT3_ENST00000409404.2_Frame_Shift_Ins_p.E299fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	299	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGGAGAGATCGAATCTGTTTC	0.436										TCGA Ovarian(4;0.039)			False	0	False	11:92086172	0	ATACCTATTCTTTTCATCA	92086173	-	ATACCTATTCTTTTCATCA	92086172	7	5	90	1	0	1	1	0	0	0	0	0	5731	874	31	0	896	0	FAT3	11	92086172	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	6455694	92086172	42920344	193	28839											
ENDOD1	23052	broad.mit.edu	37	chr11	94862206	94862206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctccagaggcatctgaGggaagtagtagctttttggg	14	7	1	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:94862206G>A	ENST00000278505.4	+	2	1084	c.966G>A	c.(964-966)gaG>gaA	p.E322E		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	322						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				AGGCATCTGAGGGAAGTAGTA	0.433													False	0	True	11:94862206	0	A	94862206	G	A	94862206	2	1	90	1	0	0	0	0	0	0	0	1	5146	991	35	2		2	ENDOD1	11	94862206	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	2776034	94862206	40144310	194	28840											
KDELC2	143888	broad.mit.edu	37	chr11	108357108	108357109	+	Frame_Shift_Ins	INS	-	-	GT													tccttggttggacaagaaagINSagtcttctgccaggcctgag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:108357108_108357109insGT	ENST00000434945.2	-	2	593_594	c.291_292insAC	c.(289-294)actcttfs	p.L98fs	KDELC2_ENST00000323468.5_Frame_Shift_Ins_p.L154fs|KDELC2_ENST00000375648.1_Frame_Shift_Ins_p.L98fs			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	154						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GGACAAGAAAGAGTCTTCTGCC	0.465													False	0	True	11:108357108	0	GT	108357109	-	GT	108357108	7	5	90	1	0	1	1	0	0	0	0	0	8168	942	33	0	1087	0	KDELC2	11	108357108	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	13494902	108357108	26649408	195	28841	312	2									
KDELC2	143888	broad.mit.edu	37	chr11	108357110	108357111	+	Frame_Shift_Ins	INS	-	-	GAGAA													cttggttggacaagaaagagINStcttctgccaggcctgagga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:108357110_108357111insGAGAA	ENST00000434945.2	-	2	591_592	c.289_290insTTCTC	c.(289-291)actfs	p.T97fs	KDELC2_ENST00000323468.5_Frame_Shift_Ins_p.T153fs|KDELC2_ENST00000375648.1_Frame_Shift_Ins_p.T97fs			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	153						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ACAAGAAAGAGTCTTCTGCCAG	0.465													False	0	False	11:108357110	0	GAGAA	108357111	-	GAGAA	108357110	7	5	90	1	0	1	1	0	0	0	0	0	8168	1029	36	0	1089	0	KDELC2	11	108357110	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	108357110	26649406	196	28842	312	2									
NCAM1	4684	broad.mit.edu	37	chr11	113126681	113126681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctgatcaagcaggatgaCggcggctcccccatcagaca	10	14	2	3			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:113126681C>T	ENST00000316851.7	+	14	1881	c.1881C>T	c.(1879-1881)gaC>gaT	p.D627D	NCAM1_ENST00000533760.1_Silent_p.D509D|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	637	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGCAGGATGACGGCGGCTCCC	0.552													False	0	False	11:113126681	0	T	113126681	C	T	113126681	2	4	90	1	0	0	0	0	0	0	0	1	10270	535	19	1		1	NCAM1	11	113126681	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	4769571	113126681	21879835	197	28843											
OR6T1	219874	broad.mit.edu	37	chr11	123813849	123813850	+	In_Frame_Ins	INS	-	-	TCCGCA													gaaaacgctttccttcgctcINSagcagctgtaggggccctga					rs76651236	by1000genomes	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:123813849_123813850insTCCGCA	ENST00000321252.2	-	1	730_731	c.696_697insTGCGGA	c.(694-699)gctgag>gctTGCGGAgag	p.232_233AE>ACGE		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A232A(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTCCTTCGCTCAGCAGCTGTAG	0.51													False	0	False	11:123813849	0	TCCGCA	123813850	-	TCCGCA	123813849	7	5	90	1	0	1	1	0	0	0	0	0	11278	835	29	0	277	0	OR6T1	11	123813849	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	10687168	123813849	11192667	198	28844											
TAS2R13	50838	broad.mit.edu	37	chr12	11061117	11061118	+	Frame_Shift_Ins	INS	-	-	AGATTATTGAATA													tcacaaagcatgtagatcacINStgtgttctgatacagctcag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:11061117_11061118insAGATTATTGAATA	ENST00000390677.2	-	1	1043_1044	c.780_781insTATTCAATAATCT	c.(778-783)acagtgfs	p.V261fs	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	261					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						ATGTAGATCACTGTGTTCTGAT	0.376													False	0	False	12:11061117	0	AGATTATTGAATA	11061118	-	AGATTATTGAATA	11061117	7	5	90	1	0	1	1	0	0	0	0	0	15649	565	20	0	134	0	TAS2R13	12	11061117	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		11061117	122790778	199	28845											
TAS2R20	259295	broad.mit.edu	37	chr12	11149970	11149971	+	In_Frame_Ins	INS	-	-	CGTATTACTTGC													gaaaggtgcattgcattcctINScagtttgatcttccaagtta							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:11149970_11149971insCGTATTACTTGC	ENST00000538986.1	-	1	503_504	c.504_505insGCAAGTAATACG	c.(502-507)ctgagg>ctgGCAAGTAATACGagg	p.168_169LR>LASNTR	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	168					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ATTGCATTCCTCAGTTTGATCT	0.396													False	0	False	12:11149970	0	CGTATTACTTGC	11149971	-	CGTATTACTTGC	11149970	7	5	90	1	0	1	1	0	0	0	0	0	15653	1550	54	0	428	0	TAS2R20	12	11149970	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	88853	11149970	122701925	200	28846											
SLCO1C1	53919	broad.mit.edu	37	chr12	20854341	20854341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcactcagatagagagaagGtttgatatcccttcttcact	7	9	4	4			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:20854341G>T	ENST00000381552.1	+	3	587	c.219G>T	c.(217-219)agG>agT	p.R73S	SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.R73S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R73S			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	73					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TAGAGAGAAGGTTTGATATCC	0.393													False	0	True	12:20854341	0	T	20854341	G	T	20854341	3	4	90	1	0	0	0	0	1	0	0	0	14805	1252	44	3	225	3	SLCO1C1	12	20854341	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	9704371	20854341	112997554	201	28847											
ABCC9	10060	broad.mit.edu	37	chr12	21997786	21997786	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catccattctacagtgagggAtgtaacaaggcaaaggaaaa	10	7	1	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:21997786A>T	ENST00000261200.4	-	25	3159	c.3160T>A	c.(3160-3162)Tcc>Acc	p.S1054T	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.S1018T|ABCC9_ENST00000261201.4_Missense_Mutation_p.S1054T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1054	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACAGTGAGGGATGTAACAAGG	0.413													False	0	True	12:21997786	0	T	21997786	A	T	21997786	3	4	90	1	0	0	0	0	1	0	0	0	59	333	12	5	1687	5	ABCC9	12	21997786	Missense_Mutation	SNP	A	TCGA-IB-7885-01A-11D-2154-08	1143445	21997786	111854109	202	28848											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	90	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	3400498	25398284	108453611	203	28849											
XPOT	11260	broad.mit.edu	37	chr12	64819680	64819681	+	Frame_Shift_Ins	INS	-	-	GGGTTTTGTTG													ctgttttctagatttgtcaaINSatctctcaagtaagtataaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:64819680_64819681insGGGTTTTGTTG	ENST00000332707.5	+	15	2187_2188	c.1658_1659insGGGTTTTGTTG	c.(1657-1662)aaatctfs	p.S554fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	554	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGATTTGTCAAATCTCTCAAGT	0.366													False	0	True	12:64819680	0	GGGTTTTGTTG	64819681	-	GGGTTTTGTTG	64819680	7	5	90	1	0	1	1	0	0	0	0	0	17534	14	1	0	1712	0	XPOT	12	64819680	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	39421396	64819680	69032215	204	28850	313	2									
XPOT	11260	broad.mit.edu	37	chr12	64819681	64819682	+	Frame_Shift_Ins	INS	-	-	TATTG													tgttttctagatttgtcaaaINStctctcaagtaagtataaaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:64819681_64819682insTATTG	ENST00000332707.5	+	15	2188_2189	c.1659_1660insTATTG	c.(1660-1662)tctfs	p.S554fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	554	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GATTTGTCAAATCTCTCAAGTA	0.371													False	0	True	12:64819681	0	TATTG	64819682	-	TATTG	64819681	7	5	90	1	0	1	1	0	0	0	0	0	17534	98	4	0	1713	0	XPOT	12	64819681	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1	64819681	69032214	205	28851	313	2									
PTPRB	0	broad.mit.edu	37	chr12	71016261	71016262	+	Frame_Shift_Ins	INS	-	-	CA													cagattgggatgctgcctctINScgctgctgttttggctgtag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:71016261_71016262insCA	ENST00000550358.1	-	3	641_642	c.616_617insTG	c.(616-618)gagfs	p.E206fs	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Frame_Shift_Ins_p.E206fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.E205fs			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E206*(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGCTGCCTCTCGCTGCTGTTT	0.465													False	0	False	12:71016261	0	CA	71016262	-	CA	71016261	7	5	90	1	0	1	1	0	0	0	0	0	12875	1551	54	0	6216	0	PTPRB	12	71016261	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	6196580	71016261	62835634	206	28852											
CEP290	80184	broad.mit.edu	37	chr12	88443110	88443111	+	Frame_Shift_Ins	INS	-	-	CC													ttcttcacttcttccttgtaINSattatacttaagatcttcaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:88443110_88443111insCC	ENST00000552810.1	-	54	7633_7634	c.7290_7291insGG	c.(7288-7293)aattacfs	p.Y2431fs	C12orf29_ENST00000356891.3_3'UTR|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.Y2433fs|CEP290_ENST00000547691.2_Frame_Shift_Ins_p.Y1491fs|CEP290_ENST00000397838.3_Frame_Shift_Ins_p.Y1491fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2431					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTTCCTTGTAATTATACTTAA	0.307													False	0	False	12:88443110	0	CC	88443111	-	CC	88443110	7	5	90	1	0	1	1	0	0	0	0	0	3276	362	13	0	152	0	CEP290	12	88443110	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	17426849	88443110	45408785	207	28853											
ANO4	121601	broad.mit.edu	37	chr12	101336307	101336308	+	In_Frame_Ins	INS	-	-	GTTCAAGTGAGTAATGTT													cagaaggattgcaaatggagINSaaagaggtaaatagtttgct							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:101336307_101336308insGTTCAAGTGAGTAATGTT	ENST00000392979.3	+	4	706_707	c.345_346insGTTCAAGTGAGTAATGTT	c.(346-348)aaa>GTTCAAGTGAGTAATGTTaaa	p.115_116insVQVSNV	ANO4_ENST00000299222.9_De_novo_Start_OutOfFrame|ANO4_ENST00000392977.3_In_Frame_Ins_p.150_151insVQVSNV|ANO4_ENST00000538618.1_In_Frame_Ins_p.316_317insVQVSNV	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	150			G -> A (in dbSNP:rs34162417).			chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGCAAATGGAGAAAGAGGTAAA	0.337										HNSCC(74;0.22)			False	0	True	12:101336307	0	GTTCAAGTGAGTAATGTT	101336308	-	GTTCAAGTGAGTAATGTT	101336307	7	5	90	1	0	1	1	0	0	0	0	0	699	933	33	0	355	0	ANO4	12	101336307	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	12893197	101336307	32515588	208	28854											
UTP20	27340	broad.mit.edu	37	chr12	101779480	101779481	+	In_Frame_Ins	INS	-	-	ATTTGAACATCAACAAAATCAACAATATGTACAACA													ggctaatgagaaaagggcacINStccggaaaaagaggaaggcc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:101779480_101779481insATTTGAACATCAACAAAATCAACAATATGTACAACA	ENST00000261637.4	+	61	8350_8351	c.8176_8177insATTTGAACATCAACAAAATCAACAATATGTACAACA	c.(8176-8178)ctc>cATTTGAACATCAACAAAATCAACAATATGTACAACAtc	p.2726_2726L>HLNINKINNMYNI		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2726					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAAAAGGGCACTCCGGAAAAAG	0.431													False	0	False	12:101779480	0	ATTTGAACATCAACAAAATCAACAATATGTACAACA	101779481	-	ATTTGAACATCAACAAAATCAACAATATGTACAACA	101779480	7	5	90	1	0	1	1	0	0	0	0	0	17183	565	20	0	8418	0	UTP20	12	101779480	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	443173	101779480	32072415	209	28855											
PLA2G1B	5319	broad.mit.edu	37	chr12	120760117	120760118	+	In_Frame_Ins	INS	-	-	ATTCTCTGTCTATAAACTAGG													ggcctcacactctttgttttINStgcctggagagggatgaaag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:120760117_120760118insATTCTCTGTCTATAAACTAGG	ENST00000423423.3	-	3	222_223	c.197_198insCCTAGTTTATAGACAGAGAAT	c.(196-198)caa>caCCTAGTTTATAGACAGAGAATa	p.66_66Q>HLVYRQRI	PLA2G1B_ENST00000308366.4_In_Frame_Ins_p.109_109K>T*FIDRE*|PLA2G1B_ENST00000549767.1_In_Frame_Ins_p.80_80K>T*FIDRE*			P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	0					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCTTTGTTTTTGCCTGGAGAG	0.49													False	0	True	12:120760117	0	ATTCTCTGTCTATAAACTAGG	120760118	-	ATTCTCTGTCTATAAACTAGG	120760117	7	5	90	1	0	1	1	0	0	0	0	0	12063	1841	64	0	124	0	PLA2G1B	12	120760117	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	18980637	120760117	13091778	210	28856											
DIABLO	56616	broad.mit.edu	37	chr12	122709110	122709111	+	Frame_Shift_Ins	INS	-	-	GAGCAGATATA													caaagccaatcgtcacagttINSttgtgccatggtcttatcaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:122709110_122709111insGAGCAGATATA	ENST00000443649.3	-	3	948_949	c.131_132insTATATCTGCTC	c.(130-132)aaafs	p.K44fs	DIABLO_ENST00000267169.6_Intron|DIABLO_ENST00000353548.6_Frame_Shift_Ins_p.K44fs|DIABLO_ENST00000413918.1_Frame_Shift_Ins_p.K44fs|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000464942.2_Intron	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	44				K -> R (in Ref. 2; BAB14994).	activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCGTCACAGTTTTGTGCCATGG	0.446													False	0	True	12:122709110	0	GAGCAGATATA	122709111	-	GAGCAGATATA	122709110	7	5	90	1	0	1	1	0	0	0	0	0	4547	1838	64	0	607	0	DIABLO	12	122709110	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1948993	122709110	11142785	211	28857	314	2									
DIABLO	56616	broad.mit.edu	37	chr12	122709112	122709113	+	Frame_Shift_Ins	INS	-	-	AATATTCTCATTTTGATTATCTCATTTG													aagccaatcgtcacagttttINSgtgccatggtcttatcaatt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:122709112_122709113insAATATTCTCATTTTGATTATCTCATTTG	ENST00000443649.3	-	3	946_947	c.129_130insCAAATGAGATAATCAAAATGAGAATATT	c.(127-132)cacaaafs	p.K44fs	DIABLO_ENST00000267169.6_Intron|DIABLO_ENST00000353548.6_Frame_Shift_Ins_p.K44fs|DIABLO_ENST00000413918.1_Frame_Shift_Ins_p.K44fs|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000464942.2_Intron	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	44				K -> R (in Ref. 2; BAB14994).	activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GTCACAGTTTTGTGCCATGGTC	0.45													False	0	True	12:122709112	0	AATATTCTCATTTTGATTATCTCATTTG	122709113	-	AATATTCTCATTTTGATTATCTCATTTG	122709112	7	5	90	1	0	1	1	0	0	0	0	0	4547	1821	63	0	609	0	DIABLO	12	122709112	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	122709112	11142783	212	28858	314	2									
DNAH10	196385	broad.mit.edu	37	chr12	124326085	124326086	+	Frame_Shift_Ins	INS	-	-	GG													ttttagatactgtgaagacaINSgaagcaggtaaggctgcgaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:124326085_124326086insGG	ENST00000409039.3	+	29	5024_5025	c.4999_5000insGG	c.(4999-5001)agafs	p.R1667fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1667	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGTGAAGACAGAAGCAGGTAA	0.411													False	1	False	12:124326085	0	GG	124326086	-	GG	124326085	7	5	90	1	0	1	1	0	0	0	0	0	4628	180	7	0	5113	0	DNAH10	12	124326085	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1616973	124326085	9525810	213	28859	315	2									
DNAH10	196385	broad.mit.edu	37	chr12	124326087	124326088	+	Frame_Shift_Ins	INS	-	-	G													ttagatactgtgaagacagaINSagcaggtaaggctgcgaatg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:124326087_124326088insG	ENST00000409039.3	+	29	5026_5027	c.5001_5002insG	c.(5002-5004)agcfs	p.S1668fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1668	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTGAAGACAGAAGCAGGTAAGG	0.406													False	0	False	12:124326087	0	G	124326088	-	G	124326087	7	5	90	1	0	1	1	0	0	0	0	0	4628	243	9	0	5115	0	DNAH10	12	124326087	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	124326087	9525808	214	28860	315	2									
TMEM132B	114795	broad.mit.edu	37	chr12	126138392	126138393	+	In_Frame_Ins	INS	-	-	TCACTG													tcaaggtcaaattcgaaccaINSagtagtgatgagcaccaagg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:126138392_126138393insTCACTG	ENST00000299308.3	+	9	2381_2382	c.2373_2374insTCACTG	c.(2374-2376)agt>TCACTGagt	p.792_792S>SLS	TMEM132B_ENST00000535886.1_In_Frame_Ins_p.304_304S>SLS	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	792						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AATTCGAACCAAGTAGTGATGA	0.426													False	0	False	12:126138392	0	TCACTG	126138393	-	TCACTG	126138392	7	5	90	1	0	1	1	0	0	0	0	0	16128	117	5	0	2407	0	TMEM132B	12	126138392	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1812305	126138392	7713503	215	28861											
CBLN3	643866	broad.mit.edu	37	chr14	24897077	24897078	+	Frame_Shift_Ins	INS	-	-	GCAGAGG													ccgacgcaggcgcagagacaINSctcggtccccagggtccaag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:24897077_24897078insGCAGAGG	ENST00000555436.1	-	3	450_451	c.382_383insCCTCTGC	c.(382-384)gtgfs	p.V128fs	CBLN3_ENST00000267406.6_Frame_Shift_Ins_p.V179fs			Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	179	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GCGCAGAGACACTCGGTCCCCA	0.574													False	0	False	14:24897077	0	GCAGAGG	24897078	-	GCAGAGG	24897077	7	5	90	1	0	1	1	0	0	0	0	0	2726	159	6	0	85	0	CBLN3	14	24897077	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		24897077	82452463	216	28862											
BAZ1A	11177	broad.mit.edu	37	chr14	35331471	35331472	+	Translation_Start_Site	INS	-	-	ATCGTTCGCGCTTACATGAAATTTGTGATGATATCTTTGCATAT													acgtcagtccaggtctacccINSgtcacagcacaactccacac							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:35331471_35331472insATCGTTCGCGCTTACATGAAATTTGTGATGATATCTTTGCATAT	ENST00000553853.1	-	0	45_46				BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.-57fs|BAZ1A_ENST00000360310.1_Frame_Shift_Ins_p.-57fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.-57fs			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A						chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	p.T57T(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CAGGTCTACCCGTCACAGCACA	0.386													False	0	True	14:35331471	0	ATCGTTCGCGCTTACATGAAATTTGTGATGATATCTTTGCATAT	35331472	-	ATCGTTCGCGCTTACATGAAATTTGTGATGATATCTTTGCATAT	35331471	6	5	90	1	0	1	1	0	0	0	0	0	1333	639	23	0		0	BAZ1A	14	35331471	Translation_Start_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	10434394	35331471	72018069	217	28863											
POLE2	5427	broad.mit.edu	37	chr14	50117144	50117145	+	Frame_Shift_Ins	INS	-	-	ACCCT													gtcagatgtccttgggataaINSgatagtctttacaaactaca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:50117144_50117145insACCCT	ENST00000539565.2	-	16	1475_1476	c.1257_1258insAGGGT	c.(1255-1260)atcttafs	p.L420fs	POLE2_ENST00000554396.1_Frame_Shift_Ins_p.L446fs|POLE2_ENST00000216367.5_Frame_Shift_Ins_p.L446fs|POLE2_ENST00000556584.1_5'UTR	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	446					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	p.I445M(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					CCTTGGGATAAGATAGTCTTTA	0.356													False	0	False	14:50117144	0	ACCCT	50117145	-	ACCCT	50117144	7	5	90	1	0	1	1	0	0	0	0	0	12266	69	3	0	259	0	POLE2	14	50117144	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	14785673	50117144	57232396	218	28864	316	2									
POLE2	5427	broad.mit.edu	37	chr14	50117145	50117146	+	In_Frame_Ins	INS	-	-	TAAGAATGTAGTTAATCTTAT													tcagatgtccttgggataagINSatagtctttacaaactacaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:50117145_50117146insTAAGAATGTAGTTAATCTTAT	ENST00000539565.2	-	16	1474_1475	c.1256_1257insATAAGATTAACTACATTCTTA	c.(1255-1257)atc>atATAAGATTAACTACATTCTTAc	p.419_420ins*D*LHSY	POLE2_ENST00000554396.1_In_Frame_Ins_p.445_446ins*D*LHSY|POLE2_ENST00000216367.5_In_Frame_Ins_p.445_446ins*D*LHSY|POLE2_ENST00000556584.1_5'UTR	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	445					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	p.I445M(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					CTTGGGATAAGATAGTCTTTAC	0.356													False	0	False	14:50117145	0	TAAGAATGTAGTTAATCTTAT	50117146	-	TAAGAATGTAGTTAATCTTAT	50117145	7	5	90	1	0	1	1	0	0	0	0	0	12266	932	33	0	260	0	POLE2	14	50117145	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1	50117145	57232395	219	28865	316	2									
NIN	51199	broad.mit.edu	37	chr14	51288700	51288700	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctgccccagggacccTgtgcccgtcgtgtcaaaact	9	17	1	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:51288700T>G	ENST00000245441.5	-	3	265	c.75A>C	c.(73-75)acA>acC	p.T25T	NIN_ENST00000530997.2_Silent_p.T25T|NIN_ENST00000382041.3_Silent_p.T25T|NIN_ENST00000382043.4_Silent_p.T25T|NIN_ENST00000453196.1_Silent_p.T25T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000324330.9_Silent_p.T25T|NIN_ENST00000389868.3_Silent_p.T25T	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	25	EF-hand 1.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCAGGGACCCTGTGCCCGTCG	0.582			T	PDGFRB	MPD								False	0	True	14:51288700	0	G	51288700	T	G	51288700	2	3	90	1	0	0	0	0	0	0	0	1	10485	1567	55	4		4	NIN	14	51288700	Silent	SNP	T	TCGA-IB-7885-01A-11D-2154-08	1171555	51288700	56060840	220	28866											
SMEK1	55671	broad.mit.edu	37	chr14	91927948	91927949	+	Frame_Shift_Ins	INS	-	-	CCCAA													ttccttttcctcactttcttINSttactaaaaatgagaatact							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:91927948_91927949insCCCAA	ENST00000554684.1	-	14	2624_2625	c.2128_2129insTTGGG	c.(2128-2130)aaafs	p.K710fs	SMEK1_ENST00000554943.1_Frame_Shift_Ins_p.K723fs|SMEK1_ENST00000428424.2_Frame_Shift_Ins_p.K484fs|SMEK1_ENST00000337238.4_Frame_Shift_Ins_p.K710fs|SMEK1_ENST00000555462.1_Frame_Shift_Ins_p.K484fs|SMEK1_ENST00000555718.1_5'UTR			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	723						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CTCACTTTCTTTTACTAAAAAT	0.396													False	0	True	14:91927948	0	CCCAA	91927949	-	CCCAA	91927948	7	5	90	1	0	1	1	0	0	0	0	0	14873	1841	64	0	341	0	SMEK1	14	91927948	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	40639248	91927948	15421592	221	28867											
RTL1	388015	broad.mit.edu	37	chr14	101348366	101348367	+	In_Frame_Ins	INS	-	-	CACTTCAACTTT													ttggaagaatcttcatctccINSgcttgagagtactcaacctc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:101348366_101348367insCACTTCAACTTT	ENST00000534062.1	-	1	2817_2818	c.2759_2760insAAAGTTGAAGTG	c.(2758-2760)gcg>gcAAAGTTGAAGTGg	p.920_921insKLKW		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	920										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTTCATCTCCGCTTGAGAGTA	0.55													False	0	False	14:101348366	0	CACTTCAACTTT	101348367	-	CACTTCAACTTT	101348366	7	5	90	1	0	1	1	0	0	0	0	0	13803	639	23	0	1320	0	RTL1	14	101348366	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	9420418	101348366	6001174	222	28868											
WDR76	79968	broad.mit.edu	37	chr15	44158578	44158579	+	Frame_Shift_Ins	INS	-	-	GT													tacatgtttttatgaatgaaINSaaaagctgctgagtttttgg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:44158578_44158579insGT	ENST00000381246.2	+	13	1948_1949	c.1677_1678insGT	c.(1678-1680)aaafs	p.K560fs	WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000263795.6_Frame_Shift_Ins_p.K624fs			Q9H967	WDR76_HUMAN	WD repeat domain 76	624										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TTATGAATGAAAAAAGCTGCTG	0.406													False	0	True	15:44158578	0	GT	44158579	-	GT	44158578	7	5	90	1	0	1	1	0	0	0	0	0	17410	11	1	0	1919	0	WDR76	15	44158578	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		44158578	58372814	223	28869	317	2									
WDR76	79968	broad.mit.edu	37	chr15	44158580	44158581	+	Frame_Shift_Ins	INS	-	-	GGTTAAAT													catgtttttatgaatgaaaaINSaagctgctgagtttttggtt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:44158580_44158581insGGTTAAAT	ENST00000381246.2	+	13	1950_1951	c.1679_1680insGGTTAAAT	c.(1678-1683)aaaagcfs	p.S561fs	WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000263795.6_Frame_Shift_Ins_p.S625fs			Q9H967	WDR76_HUMAN	WD repeat domain 76	625										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		ATGAATGAAAAAAGCTGCTGAG	0.411													False	0	True	15:44158580	0	GGTTAAAT	44158581	-	GGTTAAAT	44158580	7	5	90	1	0	1	1	0	0	0	0	0	17410	14	1	0	1921	0	WDR76	15	44158580	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	44158580	58372812	224	28870	317	2									
MYEF2	50804	broad.mit.edu	37	chr15	48435246	48435247	+	Frame_Shift_Ins	INS	-	-	TTAAAGTA													actttccattctccatttttINSatttctgcaaacattacatg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:48435246_48435247insTTAAAGTA	ENST00000324324.7	-	17	1940_1941	c.1661_1662insTACTTTAA	c.(1660-1662)atafs	p.-554fs	MYEF2_ENST00000267836.6_Frame_Shift_Ins_p.-530fs	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2						transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TCTCCATTTTTATTTCTGCAAA	0.327													False	0	True	15:48435246	0	TTAAAGTA	48435247	-	TTAAAGTA	48435246	7	5	90	1	0	1	1	0	0	0	0	0	10091	1744	61	0	144	0	MYEF2	15	48435246	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	4276666	48435246	54096146	225	28871											
MAPK6	5597	broad.mit.edu	37	chr15	52357100	52357101	+	Frame_Shift_Ins	INS	-	-	CACAAAC													agtccagttgggtcaccactINStaagtcaatacaggccacat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:52357100_52357101insCACAAAC	ENST00000261845.5	+	6	2876_2877	c.2069_2070insCACAAAC	c.(2068-2073)cttaagfs	p.K691fs	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	691					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GGGTCACCACTTAAGTCAATAC	0.436													False	0	False	15:52357100	0	CACAAAC	52357101	-	CACAAAC	52357100	7	5	90	1	0	1	1	0	0	0	0	0	9348	1609	56	0	2087	0	MAPK6	15	52357100	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	3921854	52357100	50174292	226	28872											
LACTB	114294	broad.mit.edu	37	chr15	63419711	63419712	+	Frame_Shift_Ins	INS	-	-	ATTCAATT													agaaggcaaaagtaatgaaaINSagaatgattttactaaattt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:63419711_63419712insATTCAATT	ENST00000413507.2	+	4	814_815	c.775_776insATTCAATT	c.(775-777)aagfs	p.K259fs	RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000261893.4_Frame_Shift_Ins_p.K259fs	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN	lactamase, beta	259						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						AAGTAATGAAAAGAATGATTTT	0.332													False	0	True	15:63419711	0	ATTCAATT	63419712	-	ATTCAATT	63419711	7	5	90	1	0	1	1	0	0	0	0	0	8648	15	1	0	789	0	LACTB	15	63419711	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	11062611	63419711	39111681	227	28873											
DNAJA4	55466	broad.mit.edu	37	chr15	78567999	78568000	+	Frame_Shift_Ins	INS	-	-	TT													atgaaaattcagctttctgaINSagctctttgtggcttcaaga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:78567999_78568000insTT	ENST00000446172.2	+	5	787_788	c.725_726insTT	c.(724-729)gaagctfs	p.EA242fs	DNAJA4_ENST00000343789.3_Frame_Shift_Ins_p.EA269fs|DNAJA4_ENST00000394855.3_Frame_Shift_Ins_p.EA298fs|DNAJA4_ENST00000394852.3_Frame_Shift_Ins_p.EA269fs	NM_001130183.1	NP_001123655.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	269					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CAGCTTTCTGAAGCTCTTTGTG	0.381													False	0	False	15:78567999	0	TT	78568000	-	TT	78567999	7	5	90	1	0	1	1	0	0	0	0	0	4644	246	9	0	970	0	DNAJA4	15	78567999	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	15148288	78567999	23963393	228	28874											
MORF4L1	10933	broad.mit.edu	37	chr15	79179691	79179692	+	Splice_Site	INS	-	-	AATGTCAACATAAAATGA													caacagaaaaatgttgaagtINSgtaagaagctctttgttttg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:79179691_79179692insAATGTCAACATAAAATGA	ENST00000379535.4	+	6	962	c.398_398insAATGTCAACATAAAATGA	c.(397-399)gtg>gAATGTCAACATAAAATGAtg	p.133_133V>ECQHKMM	MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000558502.1_Splice_Site_p.20_20V>ECQHKMM|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000426013.2_Splice_Site_p.108_108V>ECQHKMM|MORF4L1_ENST00000559345.1_Splice_Site_p.20_20V>ECQHKMM|MORF4L1_ENST00000331268.5_Splice_Site_p.147_147V>ECQHKMM			Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	147	Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AATGTTGAAGTGTAAGAAGCTC	0.376													False	0	False	15:79179691	0	AATGTCAACATAAAATGA	79179692	-	AATGTCAACATAAAATGA	79179691	8	5	90	1	0	1	1	0	0	0	1	0	9773	1710	59	0	462	0	MORF4L1	15	79179691	Splice_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	611692	79179691	23351701	229	28875											
ACAN	176	broad.mit.edu	37	chr15	89386782	89386782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaggcccggcccaactgCggtggcaacctcctgggcgt	13	16	0	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:89386782C>T	ENST00000439576.2	+	6	1328	c.954C>T	c.(952-954)tgC>tgT	p.C318C	ACAN_ENST00000561243.1_Silent_p.C318C|ACAN_ENST00000558207.1_Silent_p.C318C|ACAN_ENST00000559004.1_Silent_p.C318C|ACAN_ENST00000352105.7_Silent_p.C318C	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	318					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCCCAACTGCGGTGGCAACC	0.677													False	0	False	15:89386782	0	T	89386782	C	T	89386782	2	4	90	1	0	0	0	0	0	0	0	1	117	776	27	1		1	ACAN	15	89386782	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	10207091	89386782	13144610	230	28876											
MCTP2	55784	broad.mit.edu	37	chr15	94913410	94913411	+	Splice_Site	INS	-	-	AAATCTT													ttagcggcagatttctcaggINStacaggacattttcattttc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:94913410_94913411insAAATCTT	ENST00000357742.4	+	11	1582		c.e11+1		MCTP2_ENST00000451018.3_Splice_Site|MCTP2_ENST00000331706.4_Splice_Site|MCTP2_ENST00000557742.1_Splice_Site	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2						calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GATTTCTCAGGTACAGGACATT	0.376													False	0	False	15:94913410	0	AAATCTT	94913411	-	AAATCTT	94913410	8	5	90	1	0	1	1	0	0	0	1	0	9468	1275	44	0	1625	0	MCTP2	15	94913410	Splice_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	5526628	94913410	7617982	231	28877											
NCOR1	9611	broad.mit.edu	37	chr17	15989694	15989695	+	Frame_Shift_Ins	INS	-	-	TGTAATAAATAATAATC													ggtggcctggttggtcgagtINStgtcggaagccgaacgcctt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:15989694_15989695insTGTAATAAATAATAATC	ENST00000268712.3	-	23	3335_3336	c.3078_3079insGATTATTATTTATTACA	c.(3076-3081)acaactfs	p.T1027fs	NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.T1043fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1027	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTTGGTCGAGTTGTCGGAAGCC	0.465													False	0	False	17:15989694	0	TGTAATAAATAATAATC	15989695	-	TGTAATAAATAATAATC	15989694	7	5	90	1	0	1	1	0	0	0	0	0	10303	1725	60	0	4339	0	NCOR1	17	15989694	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		15989694	65205516	232	28878											
SUZ12	23512	broad.mit.edu	37	chr17	30322748	30322749	+	Frame_Shift_Ins	INS	-	-	AAATAAATGTT													tagatagtgaagatgaaaagINSgatcctgaatggctaagaga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:30322748_30322749insAAATAAATGTT	ENST00000322652.5	+	14	1990_1991	c.1761_1762insAAATAAATGTT	c.(1762-1764)gatfs	p.D588fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.D565fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	588	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AAGATGAAAAGGATCCTGAATG	0.327			T	JAZF1	endometrial stromal tumours								False	0	False	17:30322748	0	AAATAAATGTT	30322749	-	AAATAAATGTT	30322748	7	5	90	1	0	1	1	0	0	0	0	0	15498	991	35	0	1815	0	SUZ12	17	30322748	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	14333054	30322748	50872462	233	28879	318	2									
SUZ12	23512	broad.mit.edu	37	chr17	30322750	30322751	+	Frame_Shift_Ins	INS	-	-	TTTATGGCCTC													gatagtgaagatgaaaaggaINStcctgaatggctaagagaaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:30322750_30322751insTTTATGGCCTC	ENST00000322652.5	+	14	1992_1993	c.1763_1764insTTTATGGCCTC	c.(1762-1767)gatcctfs	p.P589fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.P566fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	589	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GATGAAAAGGATCCTGAATGGC	0.327			T	JAZF1	endometrial stromal tumours								False	0	False	17:30322750	0	TTTATGGCCTC	30322751	-	TTTATGGCCTC	30322750	7	5	90	1	0	1	1	0	0	0	0	0	15498	333	12	0	1817	0	SUZ12	17	30322750	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	30322750	50872460	234	28880	318	2									
TAF15	8148	broad.mit.edu	37	chr17	34171571	34171572	+	Frame_Shift_Ins	INS	-	-	ATAAGCACGA													ggctatggtggagacagaagINStgggggtggctatggtggag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:34171571_34171572insATAAGCACGA	ENST00000588240.1	+	15	1383_1384	c.1268_1269insATAAGCACGA	c.(1267-1272)agtgggfs	p.SG423fs	TAF15_ENST00000311979.3_Frame_Shift_Ins_p.SG420fs|TAF15_ENST00000592237.1_Splice_Site	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	423	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ggagacagaagtgggggtggct	0.619			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								False	0	True	17:34171571	0	ATAAGCACGA	34171572	-	ATAAGCACGA	34171571	7	5	90	1	0	1	1	0	0	0	0	0	15600	1029	36	0	1326	0	TAF15	17	34171571	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	3848821	34171571	47023639	235	28881											
USP32	84669	broad.mit.edu	37	chr17	58282903	58282904	+	In_Frame_Ins	INS	-	-	TTCTTTTCTTTA													ccatttgtgaagttcttctcINSagttccacatggcacaacag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:58282903_58282904insTTCTTTTCTTTA	ENST00000300896.4	-	26	3347_3348	c.3153_3154insTAAAGAAAAGAA	c.(3151-3156)actgag>actTAAAGAAAAGAAgag	p.1051_1052TE>T*RKEE	USP32_ENST00000592339.1_In_Frame_Ins_p.721_722TE>T*RKEE	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1051					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AAGTTCTTCTCAGTTCCACATG	0.446													False	0	False	17:58282903	0	TTCTTTTCTTTA	58282904	-	TTCTTTTCTTTA	58282903	7	5	90	1	0	1	1	0	0	0	0	0	17147	835	29	0	1696	0	USP32	17	58282903	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	24111332	58282903	22912307	236	28882											
BPTF	2186	broad.mit.edu	37	chr17	65908306	65908306	+	Frame_Shift_Del	DEL	G	G	-													gtagagtagtaagtggtaatGttgaaccaaaggttaataat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:65908306delG	ENST00000306378.6	+	11	4366	c.4306delG	c.(4306-4308)gttfs	p.V1436fs	BPTF_ENST00000335221.5_Frame_Shift_Del_p.V1562fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.V1423fs|BPTF_ENST00000321892.4_Frame_Shift_Del_p.V1562fs	NM_182641.3	NP_872579.2	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1562					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGTGGTAATGTTGAACCAAA	0.274													False	1	False	17:65908306	0	-	65908306	G	-	65908306	7	5	90	1	0	1	0	1	0	0	0	0	1502	1377	48	0	4734	0	BPTF	17	65908306	Frame_Shift_Del	DEL	G	TCGA-IB-7885-01A-11D-2154-08	7625403	65908306	15286904	237	28883											
SLC25A10	1468	broad.mit.edu	37	chr17	79673938	79673938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttcctgctccctaaggcGgtggaagaagatatccccat	9	12	1	2	rs140892819		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:79673938G>A	ENST00000571730.1	+	4	479	c.348G>A	c.(346-348)gcG>gcA	p.A116A	SLC25A10_ENST00000541223.1_Silent_p.A116A|MRPL12_ENST00000333676.3_Silent_p.A116A			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TCCCTAAGGCGGTGGAAGAAG	0.577													False	0	False	17:79673938	0	A	79673938	G	A	79673938	2	1	90	1	0	0	0	0	0	0	0	1	14552	1103	39	1		1	SLC25A10	17	79673938	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	13765632	79673938	1521272	238	28884											
DSC1	1823	broad.mit.edu	37	chr18	28736086	28736086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccatcgtctcttgctgcGcttgagggctgtgtctttgg	13	11	2	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:28736086G>A	ENST00000257197.3	-	4	652	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	DSC1_ENST00000257198.5_Missense_Mutation_p.R131C|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	131					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.R131C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTCTTGCTGCGCTTGAGGGCT	0.418													False	0	False	18:28736086	0	A	28736086	G	A	28736086	3	1	90	1	0	0	0	0	1	0	0	0	4795	1087	38	1	2385	1	DSC1	18	28736086	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08		28736086	49341162	239	28885											
KLHL14	57565	broad.mit.edu	37	chr18	30260502	30260503	+	Frame_Shift_Ins	INS	-	-	AAGCACTCTC													tggacaagtagccagtttcaINSttccttccaccaattacgta							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:30260502_30260503insAAGCACTCTC	ENST00000359358.4	-	6	1736_1737	c.1298_1299insGAGAGTGCTT	c.(1297-1299)aatfs	p.N433fs		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	433						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGCCAGTTTCATTCCTTCCACC	0.475													False	0	True	18:30260502	0	AAGCACTCTC	30260503	-	AAGCACTCTC	30260502	7	5	90	1	0	1	1	0	0	0	0	0	8420	214	8	0	603	0	KLHL14	18	30260502	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1524416	30260502	47816746	240	28886											
FBXO15	201456	broad.mit.edu	37	chr18	71790624	71790624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcttggtgaagagattgcGaaatgtaccacataggtaga	11	6	1	3	rs144253482	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:71790624G>A	ENST00000269500.5	-	8	1224	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	FBXO15_ENST00000419743.2_Missense_Mutation_p.R373C	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	297										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAGAGATTGCGAAATGTACCA	0.428													False	0	True	18:71790624	0	A	71790624	G	A	71790624	3	1	90	1	0	0	0	0	1	0	0	0	5768	1058	37	1	427	1	FBXO15	18	71790624	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	41530122	71790624	6286624	241	28887											
MUC16	94025	broad.mit.edu	37	chr19	9046560	9046561	+	Frame_Shift_Ins	INS	-	-	TT													gtctgtggaggatgagtgacINSccaggaagccattgtatctg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:9046560_9046561insTT	ENST00000397910.4	-	5	35273_35274	c.35070_35071insAA	c.(35068-35073)tgggtcfs	p.V11691fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11693	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATGAGTGACCCAGGAAGCCA	0.525													False	0	True	19:9046560	0	TT	9046561	-	TT	9046560	7	5	90	1	0	1	1	0	0	0	0	0	10040	507	18	0	8772	0	MUC16	19	9046560	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		9046560	50082423	242	28888	319	2									
MUC16	94025	broad.mit.edu	37	chr19	9046561	9046562	+	Frame_Shift_Ins	INS	-	-	A													tctgtggaggatgagtgaccINScaggaagccattgtatctgg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:9046561_9046562insA	ENST00000397910.4	-	5	35272_35273	c.35069_35070insT	c.(35068-35070)tggfs	p.W11690fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11692	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGAGTGACCCAGGAAGCCAT	0.525													False	0	True	19:9046561	0	A	9046562	-	A	9046561	7	5	90	1	0	1	1	0	0	0	0	0	10040	624	22	0	8773	0	MUC16	19	9046561	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1	9046561	50082422	243	28889	319	2									
ZNF627	199692	broad.mit.edu	37	chr19	11727707	11727708	+	Frame_Shift_Ins	INS	-	-	GAAGTACATTATTAATGTTTTGTTT													actggacgtgaaccaaatgaINSatatcaggaatatggaaaga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:11727707_11727708insGAAGTACATTATTAATGTTTTGTTT	ENST00000361113.5	+	4	597_598	c.389_390insGAAGTACATTATTAATGTTTTGTTT	c.(388-393)gaatatfs	p.Y131fs	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						GAACCAAATGAATATCAGGAAT	0.45													False	0	False	19:11727707	0	GAAGTACATTATTAATGTTTTGTTT	11727708	-	GAAGTACATTATTAATGTTTTGTTT	11727707	7	5	90	1	0	1	1	0	0	0	0	0	18134	246	9	0	403	0	ZNF627	19	11727707	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2681146	11727707	47401276	244	28890											
ZNF430	80264	broad.mit.edu	37	chr19	21239653	21239654	+	Frame_Shift_Ins	INS	-	-	CTTCTTGGAAAGAATCT													agtgaaatatttcaatatgaINStaaatatgtgaatgtctttt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:21239653_21239654insCTTCTTGGAAAGAATCT	ENST00000261560.5	+	5	720_721	c.539_540insCTTCTTGGAAAGAATCT	c.(538-543)gataaafs	p.K181fs		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTTCAATATGATAAATATGTGA	0.302													False	0	True	19:21239653	0	CTTCTTGGAAAGAATCT	21239654	-	CTTCTTGGAAAGAATCT	21239653	7	5	90	1	0	1	1	0	0	0	0	0	17987	333	12	0	557	0	ZNF430	19	21239653	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	9511946	21239653	37889330	245	28891											
ARHGAP35	2909	broad.mit.edu	37	chr19	47422093	47422094	+	In_Frame_Ins	INS	-	-	GACAGCTTCCTACATTAT													gacgagtttcacttggaccaINStacctccgtcctcagcacca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:47422093_47422094insGACAGCTTCCTACATTAT	ENST00000404338.3	+	1	161_162	c.161_162insGACAGCTTCCTACATTAT	c.(160-165)catacc>caGACAGCTTCCTACATTATtacc	p.54_54H>QTASYII		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	54					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CACTTGGACCATACCTCCGTCC	0.54													False	0	False	19:47422093	0	GACAGCTTCCTACATTAT	47422094	-	GACAGCTTCCTACATTAT	47422093	7	5	90	1	0	1	1	0	0	0	0	0	6842	217	8	0	163	0	ARHGAP35	19	47422093	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	26182440	47422093	11706890	246	28892											
KIR3DL3	115653	broad.mit.edu	37	chr19	55247491	55247491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgcacagttgaatcactgCgttttcacacagagaaaaat	7	9	2	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:55247491C>T	ENST00000291860.1	+	8	1179	c.1161C>T	c.(1159-1161)tgC>tgT	p.C387C	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	387						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGAATCACTGCGTTTTCACAC	0.517													False	0	False	19:55247491	0	T	55247491	C	T	55247491	2	4	90	1	0	0	0	0	0	0	0	1	8372	776	27	1		1	KIR3DL3	19	55247491	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	7825398	55247491	3881492	247	28893											
NLRP7	199713	broad.mit.edu	37	chr19	55449575	55449576	+	Frame_Shift_Ins	INS	-	-	AA													cgaagagagcgaagatcctgINSccgagcccagttcggaatgg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:55449575_55449576insAA	ENST00000588756.1	-	7	2451_2452	c.1965_1966insTT	c.(1963-1968)cggcagfs	p.Q656fs	NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000590030.1_Frame_Shift_Ins_p.Q656fs|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000340844.2_Frame_Shift_Ins_p.Q656fs|NLRP7_ENST00000446217.1_Frame_Shift_Ins_p.Q684fs|NLRP7_ENST00000592784.1_Frame_Shift_Ins_p.Q656fs			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	656							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGAAGATCCTGCCGAGCCCAGT	0.5													False	0	False	19:55449575	0	AA	55449576	-	AA	55449575	7	5	90	1	0	1	1	0	0	0	0	0	10550	1328	46	0	1175	0	NLRP7	19	55449575	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	202084	55449575	3679408	248	28894											
PROKR2	128674	broad.mit.edu	37	chr20	5295012	5295013	+	Frame_Shift_Ins	INS	-	-	GG													gtgtttccattctgggctgcINScatggtgatgtctgcaagaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:5295012_5295013insGG	ENST00000217270.3	-	1	2_3	c.3_4insCC	c.(1-6)atggcafs	p.A2fs	PROKR2_ENST00000546004.1_Frame_Shift_Ins_p.A2fs	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	2						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TTCTGGGCTGCCATGGTGATGT	0.53										HNSCC(71;0.22)			False	0	False	20:5295012	0	GG	5295013	-	GG	5295012	7	5	90	1	0	1	1	0	0	0	0	0	12629	739	26	0	1157	0	PROKR2	20	5295012	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		5295012	57730508	249	28895											
NAA20	51126	broad.mit.edu	37	chr20	20007556	20007557	+	Frame_Shift_Ins	INS	-	-	A													ggagttactagaggagatttINScagaaaggtgagattcagtt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:20007556_20007557insA	ENST00000310450.4	+	4	385_386	c.298_299insA	c.(298-300)tcafs	p.S100fs	NAA20_ENST00000334982.4_Frame_Shift_Ins_p.S100fs|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.S88fs	NM_181528.3	NP_852669.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	100	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						AGAGGAGATTTCAGAAAGGTGA	0.446													False	0	True	20:20007556	0	A	20007557	-	A	20007556	7	5	90	1	0	1	1	0	0	0	0	0	10187	1783	62	0	333	0	NAA20	20	20007556	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	14712544	20007556	43017964	250	28896	320	2									
NAA20	51126	broad.mit.edu	37	chr20	20007557	20007558	+	Frame_Shift_Ins	INS	-	-	ACATAAATAT													gagttactagaggagatttcINSagaaaggtgagattcagttt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:20007557_20007558insACATAAATAT	ENST00000310450.4	+	4	386_387	c.299_300insACATAAATAT	c.(298-303)tcagaafs	p.E101fs	NAA20_ENST00000334982.4_Frame_Shift_Ins_p.E101fs|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.E89fs	NM_181528.3	NP_852669.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	101	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						GAGGAGATTTCAGAAAGGTGAG	0.446													False	0	False	20:20007557	0	ACATAAATAT	20007558	-	ACATAAATAT	20007557	7	5	90	1	0	1	1	0	0	0	0	0	10187	838	29	0	334	0	NAA20	20	20007557	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1	20007557	43017963	251	28897	320	2									
DHX35	60625	broad.mit.edu	37	chr20	37632518	37632519	+	In_Frame_Ins	INS	-	-	AAAATAAAAGTTGGGATC													ttcctttgagcaaatgaaagINStgtttgaaagggtgtcacgc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:37632518_37632519insAAAATAAAAGTTGGGATC	ENST00000252011.3	+	11	1012_1013	c.979_980insAAAATAAAAGTTGGGATC	c.(979-981)gtg>gAAAATAAAAGTTGGGATCtg	p.327_327V>ENKSWDL	DHX35_ENST00000373325.2_In_Frame_Ins_p.327_327V>ENKSWDL|DHX35_ENST00000373323.4_In_Frame_Ins_p.296_296V>ENKSWDL	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	327	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCAAATGAAAGTGTTTGAAAGG	0.495													False	0	False	20:37632518	0	AAAATAAAAGTTGGGATC	37632519	-	AAAATAAAAGTTGGGATC	37632518	7	5	90	1	0	1	1	0	0	0	0	0	4538	1029	36	0	1021	0	DHX35	20	37632518	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	17624961	37632518	25393002	252	28898											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506266	44506266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccagatgtcccaggccGtactggatgaggatctcttc	11	12	2	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:44506266G>A	ENST00000255152.2	+	2	1278	c.1069G>A	c.(1069-1071)Gta>Ata	p.V357I	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.V351I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	357							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GTCCCAGGCCGTACTGGATGA	0.522													False	0	False	20:44506266	0	A	44506266	G	A	44506266	3	1	90	1	0	0	0	0	1	0	0	0	18324	1145	40	1	1075	1	ZSWIM3	20	44506266	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	6873748	44506266	18519254	253	28899											
SYCP2	10388	broad.mit.edu	37	chr20	58449064	58449065	+	In_Frame_Ins	INS	-	-	TCTCTTTATCAGATATATCTGAAG													gataaggtgatatagattttINSgttatgcagtcataatcctg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:58449064_58449065insTCTCTTTATCAGATATATCTGAAG	ENST00000357552.3	-	35	3626_3627	c.3401_3402insCTTCAGATATATCTGATAAAGAGA	c.(3400-3402)aca>acCTTCAGATATATCTGATAAAGAGAa	p.1134_1135insFRYI**RE	SYCP2_ENST00000371001.2_In_Frame_Ins_p.1134_1135insFRYI**RE			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1134					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATATAGATTTTGTTATGCAGTC	0.302													False	0	True	20:58449064	0	TCTCTTTATCAGATATATCTGAAG	58449065	-	TCTCTTTATCAGATATATCTGAAG	58449064	7	5	90	1	0	1	1	0	0	0	0	0	15514	1799	63	0	1234	0	SYCP2	20	58449064	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	13942798	58449064	4576456	254	28900											
RTEL1	51750	broad.mit.edu	37	chr20	62292776	62292776	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaagattgccgagagggcGcaaggagagcttttcccgga	15	10	0	3	rs116624637	by1000genomes	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:62292776G>A	ENST00000318100.4	+	3	1055	c.228G>A	c.(226-228)gcG>gcA	p.A76A	RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A76A|RTEL1_ENST00000508582.2_Silent_p.A76A|RTEL1_ENST00000370018.3_Silent_p.A76A|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000360203.5_Silent_p.A76A	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	76	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCGAGAGGGCGCAAGGAGAGC	0.637													False	0	False	20:62292776	0	A	62292776	G	A	62292776	2	1	90	1	0	0	0	0	0	0	0	1	13799	1074	38	1		1	RTEL1	20	62292776	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	3843712	62292776	732744	255	28901											
KCNE1	3753	broad.mit.edu	37	chr21	35821678	35821679	+	Frame_Shift_Ins	INS	-	-	ACCTGATTTTCTAATCACATTCCTCTCATACTCTTTATTG													tgtccttctcttgccaggcaINStcggactcgatgtagacgtt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr21:35821678_35821679insACCTGATTTTCTAATCACATTCCTCTCATACTCTTTATTG	ENST00000337385.3	-	3	629_630	c.254_255insCAATAAAGAGTATGAGAGGAATGTGATTAGAAAATCAGGT	c.(253-255)gatfs	p.-85fs	KCNE1_ENST00000399284.1_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000399286.2_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000416357.2_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000399289.3_Frame_Shift_Ins_p.-85fs|KCNE1_ENST00000432085.1_Frame_Shift_Ins_p.-85fs	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1						blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CTTGCCAGGCATCGGACTCGAT	0.55													False	0	False	21:35821678	0	ACCTGATTTTCTAATCACATTCCTCTCATACTCTTTATTG	35821679	-	ACCTGATTTTCTAATCACATTCCTCTCATACTCTTTATTG	35821678	7	5	90	1	0	1	1	0	0	0	0	0	8071	214	8	0	138	0	KCNE1	21	35821678	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		35821678	12308217	256	28902											
MORC3	23515	broad.mit.edu	37	chr21	37741983	37741984	+	Frame_Shift_Ins	INS	-	-	TCTTGTA													agaccatatggtatctcagtINSatcagcaagctttggaagaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr21:37741983_37741984insTCTTGTA	ENST00000400485.1	+	15	2393_2394	c.2317_2318insTCTTGTA	c.(2317-2319)tatfs	p.Y773fs	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	773					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GGTATCTCAGTATCAGCAAGCT	0.371													False	0	False	21:37741983	0	TCTTGTA	37741984	-	TCTTGTA	37741983	7	5	90	1	0	1	1	0	0	0	0	0	9770	1638	57	0	2375	0	MORC3	21	37741983	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	1920305	37741983	10387912	257	28903											
SNAP29	9342	broad.mit.edu	37	chr22	21213614	21213614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgtacgagtccgagaaGgttggggtcgcctcttccga	13	11	2	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:21213614G>A	ENST00000215730.7	+	1	344	c.216G>A	c.(214-216)aaG>aaA	p.K72K		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa						cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			AGTCCGAGAAGGTTGGGGTCG	0.637													False	0	False	22:21213614	0	A	21213614	G	A	21213614	2	1	90	1	0	0	0	0	0	0	0	1	14911	991	35	2		2	SNAP29	22	21213614	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08		21213614	30090952	258	28904											
EWSR1	2130	broad.mit.edu	37	chr22	29693898	29693899	+	Frame_Shift_Ins	INS	-	-	TGTAATCTTCTCTAAGATCTTTA													agtatgcggggtggtctgccINSaccccgtgagggcagaggca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:29693898_29693899insTGTAATCTTCTCTAAGATCTTTA	ENST00000397938.2	+	13	1695_1696	c.1376_1377insTGTAATCTTCTCTAAGATCTTTA	c.(1375-1380)ccacccfs	p.P460fs	EWSR1_ENST00000332050.6_Frame_Shift_Ins_p.P387fs|EWSR1_ENST00000332035.6_Frame_Shift_Ins_p.P404fs|EWSR1_ENST00000331029.7_Frame_Shift_Ins_p.P422fs|EWSR1_ENST00000414183.2_Frame_Shift_Ins_p.P465fs|EWSR1_ENST00000406548.1_Frame_Shift_Ins_p.P459fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	460	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTGGTCTGCCACCCCGTGAGG	0.49			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								False	0	True	22:29693898	0	TGTAATCTTCTCTAAGATCTTTA	29693899	-	TGTAATCTTCTCTAAGATCTTTA	29693898	7	5	90	1	0	1	1	0	0	0	0	0	5328	594	21	0	1543	0	EWSR1	22	29693898	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	8480284	29693898	21610668	259	28905											
EP300	2033	broad.mit.edu	37	chr22	41533755	41533755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggaaacagtggcacgaagAtattactcaggatcttcgaa	10	8	2	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:41533755A>G	ENST00000263253.7	+	8	2940	c.1721A>G	c.(1720-1722)gAt>gGt	p.D574G		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	574	KIX.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGCACGAAGATATTACTCAG	0.438			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				False	0	False	22:41533755	0	G	41533755	A	G	41533755	3	3	90	1	0	0	0	0	1	0	0	0	5180	333	12	4	1751	4	EP300	22	41533755	Missense_Mutation	SNP	A	TCGA-IB-7885-01A-11D-2154-08	11839857	41533755	9770811	260	28906											
ZFX	7543	broad.mit.edu	37	chrX	24229460	24229461	+	Frame_Shift_Ins	INS	-	-	AATGGAAG													cagaaaagaaccagcacataINSatgcgacatcataaagaagt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:24229460_24229461insAATGGAAG	ENST00000379177.1	+	11	2812_2813	c.2385_2386insAATGGAAG	c.(2386-2388)atgfs	p.M796fs	ZFX_ENST00000379188.3_Frame_Shift_Ins_p.M796fs|ZFX_ENST00000539115.1_Frame_Shift_Ins_p.M567fs|ZFX_ENST00000304543.5_Frame_Shift_Ins_p.M796fs|ZFX_ENST00000540034.1_Frame_Shift_Ins_p.M835fs|ZFX_ENST00000338565.3_Frame_Shift_Ins_p.M746fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	796					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ACCAGCACATAATGCGACATCA	0.411													False	0	False	X:24229460	0	AATGGAAG	24229461	-	AATGGAAG	24229460	7	5	90	1	0	1	1	0	0	0	0	0	17744	352	13	0	2470	0	ZFX	23	24229460	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		24229460	131041100	261	28907											
HUWE1	10075	broad.mit.edu	37	chrX	53592200	53592201	+	Splice_Site	INS	-	-	AT													ctgtgttggccatgttgggaINSctgagataagggaagataaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:53592200_53592201insAT	ENST00000342160.3	-	49	7165	c.6708_6708insAT	c.(6706-6708)agt>agATt	p.S2236fs	HUWE1_ENST00000262854.6_Splice_Site_p.S2236fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2236					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCATGTTGGGACTGAGATAAGG	0.436													False	0	False	X:53592200	0	AT	53592201	-	AT	53592200	8	5	90	1	0	1	1	0	0	0	1	0	7511	289	10	0	6556	0	HUWE1	23	53592200	Splice_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	29362740	53592200	101678360	262	28908											
TAF1	6872	broad.mit.edu	37	chrX	70627893	70627893	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaatcatcactcggccaAtggacctacaaacactccgc	5	15	2	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:70627893A>G	ENST00000449580.1	+	28	4324	c.4273A>G	c.(4273-4275)Atg>Gtg	p.M1425V	TAF1_ENST00000423759.1_Missense_Mutation_p.M1446V|TAF1_ENST00000276072.3_Missense_Mutation_p.M1446V|TAF1_ENST00000373790.4_Missense_Mutation_p.M1425V			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1425	Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CACTCGGCCAATGGACCTACA	0.468													False	0	False	X:70627893	0	G	70627893	A	G	70627893	3	3	90	1	0	0	0	0	1	0	0	0	15595	101	4	4	4446	4	TAF1	23	70627893	Missense_Mutation	SNP	A	TCGA-IB-7885-01A-11D-2154-08	17035693	70627893	84642667	263	28909											
OGT	8473	broad.mit.edu	37	chrX	70793607	70793608	+	In_Frame_Ins	INS	-	-	AACTCTACGCTATCT													gctggcaacaaacctgaccaINScatgattaagcctgttgaag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:70793607_70793608insAACTCTACGCTATCT	ENST00000373719.3	+	22	3321_3322	c.3104_3105insAACTCTACGCTATCT	c.(3103-3108)cacatg>caAACTCTACGCTATCTcatg	p.1035_1035H>QTLRYL	OGT_ENST00000373701.3_In_Frame_Ins_p.1025_1025H>QTLRYL	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	1035					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AAACCTGACCACATGATTAAGC	0.455													False	0	False	X:70793607	0	AACTCTACGCTATCT	70793608	-	AACTCTACGCTATCT	70793607	7	5	90	1	0	1	1	0	0	0	0	0	10915	159	6	0	3190	0	OGT	23	70793607	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	165714	70793607	84476953	264	28910	321	2									
OGT	8473	broad.mit.edu	37	chrX	70793609	70793610	+	Frame_Shift_Ins	INS	-	-	TTTC													tggcaacaaacctgaccacaINStgattaagcctgttgaagtc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:70793609_70793610insTTTC	ENST00000373719.3	+	22	3323_3324	c.3106_3107insTTTC	c.(3106-3108)atgfs	p.M1036fs	OGT_ENST00000373701.3_Frame_Shift_Ins_p.M1026fs	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	1036					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ACCTGACCACATGATTAAGCCT	0.46													False	0	False	X:70793609	0	TTTC	70793610	-	TTTC	70793609	7	5	90	1	0	1	1	0	0	0	0	0	10915	217	8	0	3192	0	OGT	23	70793609	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	2	70793609	84476951	265	28911	321	2									
ATRX	546	broad.mit.edu	37	chrX	76938995	76938996	+	In_Frame_Ins	INS	-	-	AGATGAAGAATGTAA													gtgagtttaacatataattcINSttttgttactttagctgtag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:76938995_76938996insAGATGAAGAATGTAA	ENST00000373344.5	-	9	1966_1967	c.1752_1753insTTACATTCTTCATCT	c.(1750-1755)aaagaa>aaaTTACATTCTTCATCTgaa	p.584_585KE>KLHSSSE	ATRX_ENST00000395603.3_In_Frame_Ins_p.546_547KE>KLHSSSE|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	584					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.E585K(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACATATAATTCTTTTGTTACTT	0.327			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						False	0	True	X:76938995	0	AGATGAAGAATGTAA	76938996	-	AGATGAAGAATGTAA	76938995	7	5	90	1	0	1	1	0	0	0	0	0	1212	922	32	0	5833	0	ATRX	23	76938995	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	6145386	76938995	78331565	266	28912											
COL4A6	1288	broad.mit.edu	37	chrX	107402967	107402968	+	Frame_Shift_Ins	INS	-	-	CATC													ctgaagcggggcagacaggaINSgccagcaaagcctggaagga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:107402967_107402968insCATC	ENST00000334504.7	-	44	4769_4770	c.4536_4537insGATG	c.(4534-4539)ggctccfs	p.S1513fs	COL4A6_ENST00000418180.1_Frame_Shift_Ins_p.S48fs|COL4A6_ENST00000372216.4_Frame_Shift_Ins_p.S1514fs|COL4A6_ENST00000545689.1_Frame_Shift_Ins_p.S1489fs|COL4A6_ENST00000538570.1_Frame_Shift_Ins_p.S1456fs|COL4A6_ENST00000394872.2_Frame_Shift_Ins_p.S1514fs	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1514	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGCAGACAGGAGCCAGCAAAGC	0.554									Alport syndrome with Diffuse Leiomyomatosis				False	0	False	X:107402967	0	CATC	107402968	-	CATC	107402967	7	5	90	1	0	1	1	0	0	0	0	0	3718	304	11	0	543	0	COL4A6	23	107402967	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	30463972	107402967	47867593	267	28913											
TRPC5	7224	broad.mit.edu	37	chrX	111090643	111090644	+	Frame_Shift_Ins	INS	-	-	TTTATCTACTG													tgccacatttcccattcctcINSccttggacgagaaccattat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:111090643_111090644insTTTATCTACTG	ENST00000262839.2	-	6	2316_2317	c.1398_1399insCAGTAGATAAA	c.(1396-1401)agggagfs	p.E467fs		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	467					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCCATTCCTCCCTTGGACGAG	0.431													False	0	True	X:111090643	0	TTTATCTACTG	111090644	-	TTTATCTACTG	111090643	7	5	90	1	0	1	1	0	0	0	0	0	16665	864	30	0	1546	0	TRPC5	23	111090643	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	3687676	111090643	44179917	268	28914											
FMR1NB	158521	broad.mit.edu	37	chrX	147084820	147084821	+	Frame_Shift_Ins	INS	-	-	TAAATTAATTATA													tccgcattggaagctttgctINSgaattttttctttccaacaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:147084820_147084821insTAAATTAATTATA	ENST00000370467.3	+	2	451_452	c.377_378insTAAATTAATTATA	c.(376-381)ctgaatfs	p.N127fs		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	127	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGCTTTGCTGAATTTTTTCT	0.381													False	0	False	X:147084820	0	TAAATTAATTATA	147084821	-	TAAATTAATTATA	147084820	7	5	90	1	0	1	1	0	0	0	0	0	6001	1580	55	0	383	0	FMR1NB	23	147084820	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	35994177	147084820	8185740	269	28915											
PLXNB3	5365	broad.mit.edu	37	chrX	153035996	153035996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctaggtgtcgcgcttgcGtgggcagcatctggcggtgt	16	11	2	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:153035996G>A	ENST00000538966.1	+	11	2249	c.1978G>A	c.(1978-1980)Gtg>Atg	p.V660M	PLXNB3_ENST00000361971.5_Missense_Mutation_p.V637M|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.V247M|PLXNB3_ENST00000538776.1_Missense_Mutation_p.V290M	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	637					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGCGCTTGCGTGGGCAGCAT	0.677													False	0	False	X:153035996	0	A	153035996	G	A	153035996	3	1	90	1	0	0	0	0	1	0	0	0	12194	1145	40	1	2061	1	PLXNB3	23	153035996	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	5951176	153035996	2234564	270	28916											
ACTRT2	140625	broad.mit.edu	37	chr1	2938408	2938410	+	In_Frame_Del	DEL	AGA	AGA	-													tccctcagcagaggccaaccAgaagaagtactttgtggggg					rs4013154		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:2938408_2938410delAGA	ENST00000378404.2	+	1	363_365	c.158_160delAGA	c.(157-162)cagaag>cag	p.K55del		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	55				Missing (in Ref. 5; AAH29499).		cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GAGGCCAACCAGAAGAAGTACTT	0.611													False	2	False	1:2938408	0	-	2938410	AGA	-	2938408	7	5	91	1	0	1	0	1	0	0	0	0	219	188	7	0	160	0	ACTRT2	1	2938408	In_Frame_Del	DEL	AGA	TCGA-IB-7886-01A-11D-2154-08		2938408	246312213	1	28917											
GPSM2	29899	broad.mit.edu	37	chr1	109465166	109465168	+	In_Frame_Del	DEL	CTT	CTT	-													ccatacagcttcaacaacaaCttcttccactccccctaaaa					rs79761186		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:109465166_109465168delCTT	ENST00000406462.1	+	14	2341_2343	c.1568_1570delCTT	c.(1567-1572)acttct>act	p.S525del	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_In_Frame_Del_p.S525del			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	525					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCAACAACAACTTCTTCCACTCC	0.374													False	2	True	1:109465166	0	-	109465168	CTT	-	109465166	7	5	91	1	0	1	0	1	0	0	0	0	6782	565	20	0	1614	0	GPSM2	1	109465166	In_Frame_Del	DEL	CTT	TCGA-IB-7886-01A-11D-2154-08	106526758	109465166	139785455	2	28918											
OVGP1	5016	broad.mit.edu	37	chr1	111957548	111957592	+	In_Frame_Del	DEL	GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	-													acagactgatgacccacaggGgtcagggtcttttccccagg					rs113984808	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	-	-	GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:111957548_111957592delGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	ENST00000369732.3	-	11	1586_1630	c.1531_1575delTCTGTGGGTTATCAGTCTGTGACCCCTGGGGAAAAGACCCTGACC	c.(1531-1575)tctgtgggttatcagtctgtgacccctggggaaaagaccctgaccdel	p.SVGYQSVTPGEKTLT511del		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	511				S -> P (in Ref. 2; AAB04126).	chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGAGGTCAGGGTC	0.555													False	1	True	1:111957548	0	-	111957592	GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	-	111957548	7	5	91	1	0	1	0	1	0	0	0	0	11393	1219	43	0	465	0	OVGP1	1	111957548	In_Frame_Del	DEL	GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	TCGA-IB-7886-01A-11D-2154-08	2492382	111957548	137293073	3	28919											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	91	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-IB-7886-01A-11D-2154-08	40713967	152671515	96579106	4	28920											
FMO2	2327	broad.mit.edu	37	chr1	171165803	171165803	+	Frame_Shift_Del	DEL	G	G	-													tcaagacaactgtccttagtGtgagaaaatgtccagatttc					rs28369860		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:171165803delG	ENST00000209929.7	+	4	495	c.337delG	c.(337-339)gtgfs	p.V113fs	FMO2_ENST00000441535.1_Frame_Shift_Del_p.V113fs|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000529935.1_3'UTR			Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	113					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTCCTTAGTGTGAGAAAATG	0.453													False	1	False	1:171165803	0	-	171165803	G	-	171165803	7	5	91	1	0	1	0	1	0	0	0	0	5995	1377	48	0	347	0	FMO2	1	171165803	Frame_Shift_Del	DEL	G	TCGA-IB-7886-01A-11D-2154-08	18494288	171165803	78084818	5	28921											
PAPPA2	60676	broad.mit.edu	37	chr1	176759114	176759114	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtaaccaggaacgtgaaaagGtaaggaacattttttgaact	10	5	0	2			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:176759114G>C	ENST00000367662.3	+	18	6048		c.e18+1			NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2						cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACGTGAAAAGGTAAGGAACAT	0.418													False	0	False	1:176759114	0	C	176759114	G	C	176759114	5	2	91	1	0	0	0	0	0	0	1	0	11501	1275	44	5	5004	5	PAPPA2	1	176759114	Splice_Site	SNP	G	TCGA-IB-7886-01A-11D-2154-08	5593311	176759114	72491507	6	28922											
SLC30A1	7779	broad.mit.edu	37	chr1	211751575	211751575	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaggcagagccccagcacgTtgaccagcagcccggccacg	13	16	0	3			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:211751575T>A	ENST00000367001.4	-	1	509	c.380A>T	c.(379-381)aAc>aTc	p.N127I		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	127					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CCCCAGCACGTTGACCAGCAG	0.701													False	0	False	1:211751575	0	A	211751575	T	A	211751575	3	1	91	1	0	0	0	0	1	0	0	0	14633	1725	60	5	1151	5	SLC30A1	1	211751575	Missense_Mutation	SNP	T	TCGA-IB-7886-01A-11D-2154-08	34992461	211751575	37499046	7	28923											
PLA2R1	0	broad.mit.edu	37	chr2	160843747	160843747	+	Frame_Shift_Del	DEL	C	C	-													ccatctctcttcatactctgCtttttcctgattttcaactg					rs115349802	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:160843747delC	ENST00000283243.7	-	12	2163	c.1957delG	c.(1957-1959)gcafs	p.A653fs	PLA2R1_ENST00000392771.1_Frame_Shift_Del_p.A653fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	653					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCATACTCTGCTTTTTCCTGA	0.512													False	1	True	2:160843747	0	-	160843747	C	-	160843747	7	5	91	1	0	1	0	1	0	0	0	0	12079	797	28	0	2518	0	PLA2R1	2	160843747	Frame_Shift_Del	DEL	C	TCGA-IB-7886-01A-11D-2154-08		160843747	82355626	8	28924											
PLEKHA3	65977	broad.mit.edu	37	chr2	179368599	179368599	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaatcagaagatactcttccAtccttctcttcctgaagaaa	5	11	3	4			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:179368599A>T	ENST00000234453.5	+	8	1290	c.888A>T	c.(886-888)ccA>ccT	p.P296P		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			ATACTCTTCCATCCTTCTCTT	0.363													False	0	False	2:179368599	0	T	179368599	A	T	179368599	2	4	91	1	0	0	0	0	0	0	0	1	12126	204	8	5		5	PLEKHA3	2	179368599	Silent	SNP	A	TCGA-IB-7886-01A-11D-2154-08	18524852	179368599	63830774	9	28925											
TTN	7273	broad.mit.edu	37	chr2	179537144	179537144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaaatacctttagctggGggaacagcttcctttttagg	9	9	0	0			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:179537144G>A	ENST00000589042.1	-	154	35144	c.34920C>T	c.(34918-34920)ccC>ccT	p.P11640P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P10339P|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.P11266P|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11476	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTAGCTGGGGGAACAGCTT	0.338													False	0	True	2:179537144	0	A	179537144	G	A	179537144	2	1	91	1	0	0	0	0	0	0	0	1	16819	1219	43	2		2	TTN	2	179537144	Silent	SNP	G	TCGA-IB-7886-01A-11D-2154-08	168545	179537144	63662229	10	28926											
LYZL4	131375	broad.mit.edu	37	chr3	42448399	42448399	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caccagtcactgccacgcatCtgaaagaggccaaagccagt	9	14	2	2			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:42448399C>A	ENST00000287748.3	-	3	506	c.231G>T	c.(229-231)caG>caT	p.Q77H	LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Missense_Mutation_p.Q77H	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	77					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TGCCACGCATCTGAAAGAGGC	0.577													False	0	False	3:42448399	0	A	42448399	C	A	42448399	3	1	91	1	0	0	0	0	1	0	0	0	9196	912	32	3	221	3	LYZL4	3	42448399	Missense_Mutation	SNP	C	TCGA-IB-7886-01A-11D-2154-08		42448399	155574031	11	28927											
QARS	5859	broad.mit.edu	37	chr3	49136038	49136038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagctggctctcaccttgaCaacatgctgcagctcaatga	9	13	2	2			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:49136038C>A	ENST00000306125.6	-	20	2288	c.1951G>T	c.(1951-1953)Gtc>Ttc	p.V651F	QARS_ENST00000414533.1_Missense_Mutation_p.V640F			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	651					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CTCACCTTGACAACATGCTGC	0.572													False	0	False	3:49136038	0	A	49136038	C	A	49136038	3	1	91	1	0	0	0	0	1	0	0	0	12950	478	17	3	396	3	QARS	3	49136038	Missense_Mutation	SNP	C	TCGA-IB-7886-01A-11D-2154-08	6687639	49136038	148886392	12	28928											
CWH43	80157	broad.mit.edu	37	chr4	49019292	49019292	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcttgttggtgtgggaTtgttgggattaggactacgg	18	4	0	0			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:49019292T>C	ENST00000226432.4	+	9	1396	c.1213T>C	c.(1213-1215)Ttg>Ctg	p.L405L	CWH43_ENST00000513409.1_Silent_p.L378L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	405					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGGTGTGGGATTGTTGGGATT	0.308													False	0	False	4:49019292	0	C	49019292	T	C	49019292	2	2	91	1	0	0	0	0	0	0	0	1	4098	1490	52	4		4	CWH43	4	49019292	Silent	SNP	T	TCGA-IB-7886-01A-11D-2154-08		49019292	142134984	13	28929											
FAT1	2195	broad.mit.edu	37	chr4	187542860	187542860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catactccgcttggttacttCgatctaattctttggcagtt	7	10	2	0			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:187542860C>T	ENST00000441802.2	-	10	5089	c.4880G>A	c.(4879-4881)cGa>cAa	p.R1627Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1627	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGGTTACTTCGATCTAATTC	0.368										HNSCC(5;0.00058)			False	0	False	4:187542860	0	T	187542860	C	T	187542860	3	4	91	1	0	0	0	0	1	0	0	0	5729	884	31	1	8958	1	FAT1	4	187542860	Missense_Mutation	SNP	C	TCGA-IB-7886-01A-11D-2154-08	138523568	187542860	3611416	14	28930											
DAB2	1601	broad.mit.edu	37	chr5	39383071	39383071	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggggcccattactcagCggagtagacgagctactcga	12	11	2	1			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:39383071C>T	ENST00000320816.6	-	10	1457	c.990G>A	c.(988-990)ccG>ccA	p.P330P	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Silent_p.P309P|DAB2_ENST00000509337.1_Silent_p.P309P	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	330					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CATTACTCAGCGGAGTAGACG	0.483													False	0	False	5:39383071	0	T	39383071	C	T	39383071	2	4	91	1	0	0	0	0	0	0	0	1	4243	755	27	1		1	DAB2	5	39383071	Silent	SNP	C	TCGA-IB-7886-01A-11D-2154-08		39383071	141532189	15	28931											
GPR98	84059	broad.mit.edu	37	chr5	89971103	89971103	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctcctcagcctaaggaCgcaatgaccctgcctgcaag	9	16	1	1			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:89971103C>T	ENST00000405460.2	+	24	5250	c.5154C>T	c.(5152-5154)gaC>gaT	p.D1718D	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1718					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCCTAAGGACGCAATGACCC	0.527													False	0	False	5:89971103	0	T	89971103	C	T	89971103	2	4	91	1	0	0	0	0	0	0	0	1	6768	535	19	1		1	GPR98	5	89971103	Silent	SNP	C	TCGA-IB-7886-01A-11D-2154-08	50588032	89971103	90944157	16	28932											
ANKHD1	54882	broad.mit.edu	37	chr5	139918629	139918629	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcttggaaccctatgataaaAgttatccaaaattcaactga	6	8	1	2			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:139918629A>G	ENST00000297183.6	+	33	7654	c.7530A>G	c.(7528-7530)aaA>aaG	p.K2510K	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K2510K|ANKHD1_ENST00000544120.1_Silent_p.K834K|ANKHD1_ENST00000360839.2_Silent_p.K2510K	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGATAAAAGTTATCCAAA	0.403													False	0	True	5:139918629	0	G	139918629	A	G	139918629	2	3	91	1	0	0	0	0	0	0	0	1	628	69	3	4		4	ANKHD1	5	139918629	Silent	SNP	A	TCGA-IB-7886-01A-11D-2154-08	49947526	139918629	40996631	17	28933											
HMMR	3161	broad.mit.edu	37	chr5	162901193	162901193	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagaattacaaattgattcActtctgcaacaagagaaagt	6	6	2	3			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:162901193A>T	ENST00000393915.4	+	10	1178	c.1035A>T	c.(1033-1035)tcA>tcT	p.S345S	HMMR_ENST00000353866.3_Silent_p.S329S|HMMR_ENST00000358715.3_Silent_p.S344S|HMMR_ENST00000432118.2_Silent_p.S258S	NM_001142556.1|NM_012484.2	NP_001136028.1|NP_036616.2	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	344						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AAATTGATTCACTTCTGCAAC	0.303													False	0	False	5:162901193	0	T	162901193	A	T	162901193	2	4	91	1	0	0	0	0	0	0	0	1	7289	146	6	5		5	HMMR	5	162901193	Silent	SNP	A	TCGA-IB-7886-01A-11D-2154-08	22982564	162901193	18014067	18	28934											
TNXB	7148	broad.mit.edu	37	chr6	32038177	32038177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggggcccctgggctggCgtcacctcgggcaactggag	19	12	1	0			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:32038177C>T	ENST00000375244.3	-	14	5206	c.5005G>A	c.(5005-5007)Gcc>Acc	p.A1669T	TNXB_ENST00000375247.2_Missense_Mutation_p.A1669T			P22105	TENX_HUMAN	tenascin XB	1751	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGGGCTGGCGTCACCTCGG	0.607													False	0	False	6:32038177	0	T	32038177	C	T	32038177	3	4	91	1	0	0	0	0	1	0	0	0	16428	768	27	1	9832	1	TNXB	6	32038177	Missense_Mutation	SNP	C	TCGA-IB-7886-01A-11D-2154-08		32038177	139076890	19	28935											
MRPL18	29074	broad.mit.edu	37	chr6	160211646	160211648	+	In_Frame_Del	DEL	GTT	GTT	-													cttcggtcgcggttttggggGttgttctcggtttgcaggaa					rs58504486		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	GTT	GTT	-	-	GTT	GTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:160211646_160211648delGTT	ENST00000367034.4	+	1	149_151	c.27_29delGTT	c.(25-30)gggttg>ggg	p.L10del	MRPL18_ENST00000480842.1_3'UTR	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	10				Missing (in Ref. 2; AAF29043).	rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		GGTTTTGGGGGTTGTTCTCGGTT	0.571													False	2	True	6:160211646	0	-	160211648	GTT	-	160211646	7	5	91	1	0	1	0	1	0	0	0	0	9850	1248	44	0	29	0	MRPL18	6	160211646	In_Frame_Del	DEL	GTT	TCGA-IB-7886-01A-11D-2154-08	128173469	160211646	10903421	20	28936											
PDE10A	10846	broad.mit.edu	37	chr6	165809905	165809905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaggacagcttttccatcGttacccggtaaatgcactct	9	11	1	0			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:165809905G>A	ENST00000366882.1	-	15	1446	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M	PDE10A_ENST00000539869.2_Missense_Mutation_p.T441M|PDE10A_ENST00000354448.4_Missense_Mutation_p.T431M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	431					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.T431M(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTTTTCCATCGTTACCCGGTA	0.393													False	0	False	6:165809905	0	A	165809905	G	A	165809905	3	1	91	1	0	0	0	0	1	0	0	0	11698	1145	40	1	1083	1	PDE10A	6	165809905	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08	5598259	165809905	5305162	21	28937											
DLL1	28514	broad.mit.edu	37	chr6	170592563	170592565	+	In_Frame_Del	DEL	TGT	TGT	-													cccgatgatgctgactgagaTgtccttctcacgctggcagt							TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:170592563_170592565delTGT	ENST00000366756.3	-	9	2135_2137	c.1802_1804delACA	c.(1801-1806)gacatc>gtc	p.601_602DI>V		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	601					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	p.D601D(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGACTGAGATGTCCTTCTCACG	0.635													False	1	False	6:170592563	0	-	170592565	TGT	-	170592563	7	5	91	1	0	1	0	1	0	0	0	0	4596	1464	51	0	379	0	DLL1	6	170592563	In_Frame_Del	DEL	TGT	TCGA-IB-7886-01A-11D-2154-08	4782658	170592563	522504	22	28938											
ZMIZ2	83637	broad.mit.edu	37	chr7	44801069	44801069	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagcgggccttgtgacgagtTgcggctgaccttccctgtgc	14	12	0	2			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:44801069T>G	ENST00000309315.4	+	10	1385	c.1262T>G	c.(1261-1263)tTg>tGg	p.L421W	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.L421W|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.L389W|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.L395W|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.L363W	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	421					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGTGACGAGTTGCGGCTGACC	0.637													False	0	False	7:44801069	0	G	44801069	T	G	44801069	3	3	91	1	0	0	0	0	1	0	0	0	17780	1821	63	4	1296	4	ZMIZ2	7	44801069	Missense_Mutation	SNP	T	TCGA-IB-7886-01A-11D-2154-08		44801069	114337594	23	28939											
COBL	23242	broad.mit.edu	37	chr7	51098568	51098570	+	In_Frame_Del	DEL	TCT	TCT	-													actctccagcaattaataggTcttcttcatcatttgaggct					rs74996531		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:51098568_51098570delTCT	ENST00000265136.7	-	9	1608_1610	c.1443_1445delAGA	c.(1441-1446)gaagac>gac	p.E481del	COBL_ENST00000395542.2_In_Frame_Del_p.E563del	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	481				Missing (in Ref. 5; AAH29275).						NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AATTAATAGGTCTTCTTCATCAT	0.409													False	2	False	7:51098568	0	-	51098570	TCT	-	51098568	7	5	91	1	0	1	0	1	0	0	0	0	3676	1667	58	0	2360	0	COBL	7	51098568	In_Frame_Del	DEL	TCT	TCGA-IB-7886-01A-11D-2154-08	6297499	51098568	108040095	24	28940											
ABCB1	5243	broad.mit.edu	37	chr7	87195527	87195527	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaacattccaattttgtcAccaattccttcattaatctt	2	10	3	1			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:87195527A>G	ENST00000265724.3	-	8	978	c.561T>C	c.(559-561)ggT>ggC	p.G187G	ABCB1_ENST00000543898.1_Silent_p.G123G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	187	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAATTTTGTCACCAATTCCTT	0.363													False	0	False	7:87195527	0	G	87195527	A	G	87195527	2	3	91	1	0	0	0	0	0	0	0	1	40	146	6	4		4	ABCB1	7	87195527	Silent	SNP	A	TCGA-IB-7886-01A-11D-2154-08	36096959	87195527	71943136	25	28941											
CDK14	5218	broad.mit.edu	37	chr7	90356126	90356126	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggcactccagccccagctcGgtaagtgcagtctttttgtt	10	13	1	0	rs55722725		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:90356126G>C	ENST00000406263.1	+	2	673	c.231G>C	c.(229-231)tcG>tcC	p.S77S	CDK14_ENST00000436577.2_Splice_Site_p.R26P|CDK14_ENST00000380050.3_Splice_Site_p.S123S|CDK14_ENST00000265741.3_Splice_Site_p.S105S			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	123					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GCCCCAGCTCGGTAAGTGCAG	0.463													False	0	False	7:90356126	0	C	90356126	G	C	90356126	5	2	91	1	0	0	0	0	0	0	1	0	3153	1130	39	5	321	5	CDK14	7	90356126	Splice_Site	SNP	G	TCGA-IB-7886-01A-11D-2154-08	3160599	90356126	68782537	26	28942											
PIK3CG	5294	broad.mit.edu	37	chr7	106508944	106508944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggacacgcctccagaccCggccctagacgaggtgagga	13	14	0	3			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:106508944C>T	ENST00000359195.3	+	2	1248	c.938C>T	c.(937-939)cCg>cTg	p.P313L	PIK3CG_ENST00000496166.1_Missense_Mutation_p.P313L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P313L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	313					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTCCAGACCCGGCCCTAGAC	0.587													False	0	True	7:106508944	0	T	106508944	C	T	106508944	3	4	91	1	0	0	0	0	1	0	0	0	11985	652	23	1	940	1	PIK3CG	7	106508944	Missense_Mutation	SNP	C	TCGA-IB-7886-01A-11D-2154-08	16152818	106508944	52629719	27	28943											
KHDRBS3	10656	broad.mit.edu	37	chr8	136594144	136594144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggggaggagttacagcccGgccagttggagttgtagtac	16	7	0	0			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:136594144G>A	ENST00000355849.5	+	6	1045	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	212	Interaction with SIAH1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GTTACAGCCCGGCCAGTTGGA	0.502													False	0	True	8:136594144	0	A	136594144	G	A	136594144	3	1	91	1	0	0	0	0	1	0	0	0	8198	1116	39	1	657	1	KHDRBS3	8	136594144	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08		136594144	9769878	28	28944											
COL22A1	169044	broad.mit.edu	37	chr8	139629165	139629165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccacttacccggggacCgggtgcaccagaatcgcctg	13	16	0	1			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:139629165C>T	ENST00000303045.6	-	54	4308	c.3862G>A	c.(3862-3864)Ggt>Agt	p.G1288S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1268S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1288	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCCGGGGACCGGGTGCACCA	0.587										HNSCC(7;0.00092)			False	0	True	8:139629165	0	T	139629165	C	T	139629165	3	4	91	1	0	0	0	0	1	0	0	0	3704	652	23	1	1066	1	COL22A1	8	139629165	Missense_Mutation	SNP	C	TCGA-IB-7886-01A-11D-2154-08	3035021	139629165	6734857	29	28945											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	23	8	0	1	rs121913388		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21971120	0	A	21971120	G	A	21971120	4	1	91	1	0	0	0	0	0	1	0	0	3184	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08		21971120	119242311	30	28946											
LMX1B	4010	broad.mit.edu	37	chr9	129455511	129455511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgacgggaaggacccgcGgaggcccaagcgaccccgga	17	13	0	1			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:129455511G>A	ENST00000355497.5	+	4	657	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	LMX1B_ENST00000526117.1_Missense_Mutation_p.R217Q|LMX1B_ENST00000373474.4_Missense_Mutation_p.R217Q|LMX1B_ENST00000561065.1_Missense_Mutation_p.R194Q|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194Q	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	194					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AAGGACCCGCGGAGGCCCAAG	0.652									Nail-Patella Syndrome				False	0	False	9:129455511	0	A	129455511	G	A	129455511	3	1	91	1	0	0	0	0	1	0	0	0	8915	1116	39	1	664	1	LMX1B	9	129455511	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08	107484391	129455511	11757920	31	28947											
COL5A1	1289	broad.mit.edu	37	chr9	137653805	137653805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccggcccaccaggacctcCgggagacgatggagaaaggg	15	12	0	2	rs149912828		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:137653805C>T	ENST00000371817.3	+	19	2384	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	657	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGGACCTCCGGGAGACGAT	0.597													False	0	True	9:137653805	0	T	137653805	C	T	137653805	3	4	91	1	0	0	0	0	1	0	0	0	3719	652	23	1	2044	1	COL5A1	9	137653805	Missense_Mutation	SNP	C	TCGA-IB-7886-01A-11D-2154-08	8198294	137653805	3559626	32	28948											
UBAC1	10422	broad.mit.edu	37	chr9	138836942	138836944	+	In_Frame_Del	DEL	CCT	CCT	-													ttccgtcagctcatctctggCctcctcatcggtggcgctgg					rs66767056		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:138836942_138836944delCCT	ENST00000371756.3	-	7	1023_1025	c.806_808delAGG	c.(805-810)gaggcc>gcc	p.E269del	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	269				Missing (in Ref. 1; AAD51084).		Golgi apparatus|plasma membrane	protein binding	p.E269delE(1)|p.E269fs*6(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TCATCTCTGGCCTCCTCATCGGT	0.621													False	2	False	9:138836942	0	-	138836944	CCT	-	138836942	7	5	91	1	0	1	0	1	0	0	0	0	16918	739	26	0	425	0	UBAC1	9	138836942	In_Frame_Del	DEL	CCT	TCGA-IB-7886-01A-11D-2154-08	1183137	138836942	2376489	33	28949											
C10orf113	387638	broad.mit.edu	37	chr10	21435341	21435344	+	Frame_Shift_Del	DEL	CACT	CACT	-													gttgattagtaaagcacaaaCactctctctcatataagcta					rs45546236		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	CACT	CACT	-	-	CACT	CACT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:21435341_21435344delCACT	ENST00000529198.1	-	1	144_147	c.94_97delAGTG	c.(94-99)agtgttfs	p.SV32fs	NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000534331.1_Frame_Shift_Del_p.SV32fs|C10orf113_ENST00000377118.4_Frame_Shift_Del_p.SV22fs	NM_001177483.1	NP_001170954.1	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	32										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						AAAGCACAAACACTCTCTCTCATA	0.397													False	1	True	10:21435341	0	-	21435344	CACT	-	21435341	7	5	91	1	0	1	0	1	0	0	0	0	1592	478	17	0	413	0	C10orf113	10	21435341	Frame_Shift_Del	DEL	CACT	TCGA-IB-7886-01A-11D-2154-08		21435341	114099406	34	28950											
ANXA7	310	broad.mit.edu	37	chr10	75156930	75156930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtacctaccaggtagtGgaacctgtgctggaccacct	12	12	0	0			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:75156930G>A	ENST00000372921.5	-	4	418	c.362C>T	c.(361-363)cCa>cTa	p.P121L	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Intron	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7		Repeat-rich region.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ACCAGGTAGTGGAACCTGTGC	0.453													False	0	False	10:75156930	0	A	75156930	G	A	75156930	3	1	91	1	0	0	0	0	1	0	0	0	723	1348	47	2	1148	2	ANXA7	10	75156930	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08	53721589	75156930	60377817	35	28951											
SORCS3	22986	broad.mit.edu	37	chr10	106918737	106918737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggagacagccccaggaCttgtggtggctacaggtaag	15	9	0	1			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:106918737C>A	ENST00000369701.3	+	11	1944	c.1717C>A	c.(1717-1719)Ctt>Att	p.L573I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	573						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCCCCAGGACTTGTGGTGGC	0.433													False	0	False	10:106918737	0	A	106918737	C	A	106918737	3	1	91	1	0	0	0	0	1	0	0	0	15012	565	20	3	1759	3	SORCS3	10	106918737	Missense_Mutation	SNP	C	TCGA-IB-7886-01A-11D-2154-08	31761807	106918737	28616010	36	28952											
SLC18A2	6571	broad.mit.edu	37	chr10	119029974	119029974	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgccaaagaagaaaaaatGgtaagaaaaatttaggatgc	9	5	0	3			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:119029974G>T	ENST00000298472.5	+	15	1583	c.1440G>T	c.(1438-1440)atG>atT	p.M480I	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	480					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AAGAAAAAATGGTAAGAAAAA	0.363													False	0	False	10:119029974	0	T	119029974	G	T	119029974	5	4	91	1	0	0	0	0	0	0	1	0	14507	1362	47	3	1494	3	SLC18A2	10	119029974	Splice_Site	SNP	G	TCGA-IB-7886-01A-11D-2154-08	12111237	119029974	16504773	37	28953											
SBF2	81846	broad.mit.edu	37	chr11	9853827	9853827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgactcccttcccatggaatCctccagatcggaggagcaga	10	14	0	2			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:9853827C>T	ENST00000256190.8	-	27	3733	c.3596G>A	c.(3595-3597)gGa>gAa	p.G1199E		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1199	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCCATGGAATCCTCCAGATCG	0.483													False	0	False	11:9853827	0	T	9853827	C	T	9853827	3	4	91	1	0	0	0	0	1	0	0	0	13939	855	30	2	2009	2	SBF2	11	9853827	Missense_Mutation	SNP	C	TCGA-IB-7886-01A-11D-2154-08		9853827	125152689	38	28954											
NFRKB	4798	broad.mit.edu	37	chr11	129735831	129735831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctcttgcccttcattggCtggctgatcacagagagggg	13	11	3	2			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:129735831C>T	ENST00000446488.3	-	24	3682	c.3579G>A	c.(3577-3579)caG>caA	p.Q1193Q	NFRKB_ENST00000304521.5_Silent_p.Q1193Q|NFRKB_ENST00000524794.1_Silent_p.Q1218Q|NFRKB_ENST00000524746.1_Silent_p.Q1193Q	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1193					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCTTCATTGGCTGGCTGATCA	0.498													False	0	True	11:129735831	0	T	129735831	C	T	129735831	2	4	91	1	0	0	0	0	0	0	0	1	10452	796	28	2		2	NFRKB	11	129735831	Silent	SNP	C	TCGA-IB-7886-01A-11D-2154-08	119882004	129735831	5270685	39	28955											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	A	25398285	C	A	25398285	3	1	91	1	0	0	0	0	1	0	0	0	8488	594	21	3	672	3	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-IB-7886-01A-11D-2154-08		25398285	108453610	40	28956											
NUAK1	9891	broad.mit.edu	37	chr12	106460608	106460608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgctgcagatctccagcGcttgcttgtagacctgagtc	11	12	1	3			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:106460608G>A	ENST00000261402.2	-	7	3337	c.1958C>T	c.(1957-1959)gCg>gTg	p.A653V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	653							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GATCTCCAGCGCTTGCTTGTA	0.632													False	0	True	12:106460608	0	A	106460608	G	A	106460608	3	1	91	1	0	0	0	0	1	0	0	0	10780	1087	38	1	31	1	NUAK1	12	106460608	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08	81062323	106460608	27391287	41	28957											
SELPLG	0	broad.mit.edu	37	chr12	109017412	109017471	+	In_Frame_Del	DEL	AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	-													gcctccatggctgtggtttgAgtggtctgtgcctccatggc					rs149850567	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	-	-	AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:109017412_109017471delAGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	ENST00000228463.6	-	2	837_896	c.661_720delGCACCAGCAGCCATGGAAGCACAGACCACTCCACCAGCAGCCATGGAGGCACAGACCACT	c.(661-720)gcaccagcagccatggaagcacagaccactccaccagcagccatggaggcacagaccactdel	p.APAAMEAQTTPPAAMEAQTT221del	SELPLG_ENST00000388962.3_In_Frame_Del_p.APAAMEAQTTPPAAMEAQTT195del|SELPLG_ENST00000550948.1_In_Frame_Del_p.APAAMEAQTTPPAAMEAQTT205del	NM_001206609.1	NP_001193538.1	Q14242	SELPL_HUMAN	selectin P ligand	205	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CTGTGGTTTGAGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGCAGTGGTCTGT	0.619													False	1	False	12:109017412	0	-	109017471	AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	-	109017412	7	5	91	1	0	1	0	1	0	0	0	0	14101	291	11	0	570	0	SELPLG	12	109017412	In_Frame_Del	DEL	AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	TCGA-IB-7886-01A-11D-2154-08	2556804	109017412	24834483	42	28958											
SUGT1	10910	broad.mit.edu	37	chr13	53254258	53254258	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agatctattcagatggttctGatgaagtgaaacgtgccatg	11	6	3	5			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr13:53254258G>C	ENST00000310528.8	+	12	923	c.868G>C	c.(868-870)Gat>Cat	p.D290H	SUGT1_ENST00000535397.1_Missense_Mutation_p.D234H|SUGT1_ENST00000343788.6_Missense_Mutation_p.D322H			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)		SGS.				mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AGATGGTTCTGATGAAGTGAA	0.313													False	0	False	13:53254258	0	C	53254258	G	C	53254258	3	2	91	1	0	0	0	0	1	0	0	0	15451	1290	45	5	1014	5	SUGT1	13	53254258	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08		53254258	61915620	43	28959											
FOXG1	2290	broad.mit.edu	37	chr14	29237195	29237195	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatctgtccctcaacaAgtgcttcgtgaaggtgccgc	9	14	2	1			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:29237195A>G	ENST00000382535.3	+	2	1079	c.710A>G	c.(709-711)aAg>aGg	p.K237R	FOXG1_ENST00000313071.4_Missense_Mutation_p.K237R			P55316	FOXG1_HUMAN	forkhead box G1	237				K -> M (in Ref. 5; AAH50072).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCCCTCAACAAGTGCTTCGTG	0.587													False	0	False	14:29237195	0	G	29237195	A	G	29237195	3	3	91	1	0	0	0	0	1	0	0	0	6049	72	3	4	712	4	FOXG1	14	29237195	Missense_Mutation	SNP	A	TCGA-IB-7886-01A-11D-2154-08		29237195	78112345	44	28960											
PLEKHH1	57475	broad.mit.edu	37	chr14	68044761	68044761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccagctcttcatcaacGtgccggtggaagctgcctcg	11	15	3	0			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:68044761G>A	ENST00000329153.5	+	19	2728	c.2596G>A	c.(2596-2598)Gtg>Atg	p.V866M		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	866	MyTH4.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTTCATCAACGTGCCGGTGGA	0.597													False	0	False	14:68044761	0	A	68044761	G	A	68044761	3	1	91	1	0	0	0	0	1	0	0	0	12145	1145	40	1	2666	1	PLEKHH1	14	68044761	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08	38807566	68044761	39304779	45	28961											
FLRT2	23768	broad.mit.edu	37	chr14	86089365	86089365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgcttttaactaccgcGcggtagaagacaccatttgt	10	9	0	2	rs149005998		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:86089365G>A	ENST00000330753.4	+	2	2274	c.1507G>A	c.(1507-1509)Gcg>Acg	p.A503T	FLRT2_ENST00000554746.1_Missense_Mutation_p.A503T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	503	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAACTACCGCGCGGTAGAAGA	0.537													False	0	True	14:86089365	0	A	86089365	G	A	86089365	3	1	91	1	0	0	0	0	1	0	0	0	5979	1087	38	1	1509	1	FLRT2	14	86089365	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08	18044604	86089365	21260175	46	28962											
BCL11B	64919	broad.mit.edu	37	chr14	99640770	99640770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttcttgaacaccttgccGcagtactcgcacgtgtcgct	9	14	1	1			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:99640770G>A	ENST00000345514.2	-	3	2456	c.2190C>T	c.(2188-2190)tgC>tgT	p.C730C	BCL11B_ENST00000443726.2_Silent_p.C607C|BCL11B_ENST00000357195.3_Silent_p.C801C	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	801						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACACCTTGCCGCAGTACTCGC	0.721			T	TLX3	T-ALL								False	0	False	14:99640770	0	A	99640770	G	A	99640770	2	1	91	1	0	0	0	0	0	0	0	1	1368	1079	38	1		1	BCL11B	14	99640770	Silent	SNP	G	TCGA-IB-7886-01A-11D-2154-08	13551405	99640770	7708770	47	28963											
SLC12A6	9990	broad.mit.edu	37	chr15	34546711	34546711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagctgtgccgtagacaCgcatgttatttagcatggct	11	8	0	2			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr15:34546711C>T	ENST00000354181.3	-	9	1448	c.956G>A	c.(955-957)cGt>cAt	p.R319H	SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	319					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCCGTAGACACGCATGTTATT	0.453													False	0	False	15:34546711	0	T	34546711	C	T	34546711	3	4	91	1	0	0	0	0	1	0	0	0	14468	536	19	1	2568	1	SLC12A6	15	34546711	Missense_Mutation	SNP	C	TCGA-IB-7886-01A-11D-2154-08		34546711	67984681	48	28964											
GPRC5B	0	broad.mit.edu	37	chr16	19883256	19883256	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgtcgaagtagttgggCgtgttctcctgcagggctgg	17	8	1	0			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:19883256C>T	ENST00000300571.2	-	2	1103	c.912G>A	c.(910-912)acG>acA	p.T304T	GPRC5B_ENST00000535671.1_Silent_p.T304T|GPRC5B_ENST00000569479.1_Silent_p.T304T|GPRC5B_ENST00000537135.1_Silent_p.T330T|GPRC5B_ENST00000569847.1_Silent_p.T304T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	304										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGTAGTTGGGCGTGTTCTCCT	0.637													False	0	True	16:19883256	0	T	19883256	C	T	19883256	2	4	91	1	0	0	0	0	0	0	0	1	6772	755	27	1		1	GPRC5B	16	19883256	Silent	SNP	C	TCGA-IB-7886-01A-11D-2154-08		19883256	70471497	49	28965											
SEZ6L2	26470	broad.mit.edu	37	chr16	29908310	29908310	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttctggcgcagtggggcctGcccccctgaccccgttaggg	15	15	1	1			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:29908310G>T	ENST00000308713.5	-	3	871	c.344C>A	c.(343-345)gCa>gAa	p.A115E	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.A71E|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.A115E	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	115	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTGGGGCCTGCCCCCCTGAC	0.736													False	0	True	16:29908310	0	T	29908310	G	T	29908310	3	4	91	1	0	0	0	0	1	0	0	0	14225	1319	46	3	2491	3	SEZ6L2	16	29908310	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08	10025054	29908310	60446443	50	28966											
FUS	2521	broad.mit.edu	37	chr16	31200485	31200485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccatctttgtgcaaggcCtgggtgagaatgttacaatt	10	8	1	1			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:31200485C>T	ENST00000254108.7	+	9	979	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	FUS_ENST00000380244.3_Silent_p.L291L|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Silent_p.L293L	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	292	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGTGCAAGGCCTGGGTGAGAA	0.388			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								False	0	False	16:31200485	0	T	31200485	C	T	31200485	2	4	91	1	0	0	0	0	0	0	0	1	6142	680	24	2		2	FUS	16	31200485	Silent	SNP	C	TCGA-IB-7886-01A-11D-2154-08	1292175	31200485	59154268	51	28967											
CDH11	1009	broad.mit.edu	37	chr16	64984898	64984898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgactgaaccctccacgccGggcgtacacgcctgctgtgt	11	17	0	1	rs147033764		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:64984898G>A	ENST00000394156.3	-	12	2119	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	CDH11_ENST00000268603.4_Missense_Mutation_p.R556W|CDH11_ENST00000566827.1_Missense_Mutation_p.R430W			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	556	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTCCACGCCGGGCGTACACG	0.592			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			False	0	True	16:64984898	0	A	64984898	G	A	64984898	3	1	91	1	0	0	0	0	1	0	0	0	3120	1115	39	1	732	1	CDH11	16	64984898	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08	33784413	64984898	25369855	52	28968											
TP53	7157	broad.mit.edu	37	chr17	7579518	7579519	+	Frame_Shift_Ins	INS	-	-	TT													gcttcatctggacctgggtcINSttcagtgaaccattgttcaa							TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr17:7579518_7579519insTT	ENST00000420246.2	-	4	300_301	c.168_169insAA	c.(166-171)gaagacfs	p.D57fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.D57fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.D57fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	57	Interaction with HRMT1L2.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.A63fs*66(3)|p.E51fs*59(1)|p.E56E(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGACCTGGGTCTTCAGTGAACC	0.599		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)			False	2	False	17:7579518	0	TT	7579519	-	TT	7579518	7	5	91	1	0	1	1	0	0	0	0	0	16464	913	32	0	1133	0	TP53	17	7579518	Frame_Shift_Ins	INS	-	TCGA-IB-7886-01A-11D-2154-08		7579518	73615692	53	28969											
FBXW10	10517	broad.mit.edu	37	chr17	18647848	18647849	+	Frame_Shift_Del	DEL	AG	AG	-													cggatcaacctcagcaagaaAgaggggaaagttgtgaagtc							TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr17:18647848_18647849delAG	ENST00000308799.4	+	1	510_511	c.291_292delAG	c.(289-294)aaagagfs	p.E98fs	FBXW10_ENST00000301938.4_Frame_Shift_Del_p.E98fs|FBXW10_ENST00000395665.4_Frame_Shift_Del_p.E98fs|FBXW10_ENST00000395667.1_Frame_Shift_Del_p.E98fs			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	98										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCAGCAAGAAAGAGGGGAAAGT	0.401													False	2	True	17:18647848	0	-	18647849	AG	-	18647848	7	5	91	1	0	1	0	1	0	0	0	0	5803	69	3	0	293	0	FBXW10	17	18647848	Frame_Shift_Del	DEL	AG	TCGA-IB-7886-01A-11D-2154-08	11068330	18647848	62547362	54	28970											
LAMA3	3909	broad.mit.edu	37	chr18	21407349	21407350	+	Frame_Shift_Ins	INS	-	-	TAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGG													tgtgaggccagacacttcctINSgcttgatggggagccaagac							TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr18:21407349_21407350insTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGG	ENST00000313654.9	+	23	2982_2983	c.2741_2742insTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGG	c.(2740-2745)ctgcttfs	p.L915fs	LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.L915fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	915	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGACACTTCCTGCTTGATGGGG	0.55													False	0	False	18:21407349	0	TAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGG	21407350	-	TAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGG	21407349	7	5	91	1	0	1	1	0	0	0	0	0	8658	1580	55	0	2831	0	LAMA3	18	21407349	Frame_Shift_Ins	INS	-	TCGA-IB-7886-01A-11D-2154-08		21407349	56669899	55	28971											
SMAD4	4089	broad.mit.edu	37	chr18	48593481	48593482	+	Frame_Shift_Ins	INS	-	-	T													cacgcggtctttgtacagagINSttactacttagacagagaag							TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr18:48593481_48593482insT	ENST00000588745.1	+	6	944_945	c.944_945insT	c.(943-948)agttacfs	p.Y316fs	SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.Y412fs|SMAD4_ENST00000342988.3_Frame_Shift_Ins_p.Y412fs			Q13485	SMAD4_HUMAN	SMAD family member 4	412	SAD.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTTGTACAGAGTTACTACTTAG	0.426													False	2	False	18:48593481	0	T	48593482	-	T	48593481	7	5	91	1	0	1	1	0	0	0	0	0	14840	1029	36	0	1266	0	SMAD4	18	48593481	Frame_Shift_Ins	INS	-	TCGA-IB-7886-01A-11D-2154-08	27186132	48593481	29483767	56	28972											
INSR	0	broad.mit.edu	37	chr19	7117089	7117089	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggattggaccgaggcAaggtcagaatccgcccgttt	14	9	1	1			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:7117089A>C	ENST00000341500.5	-	21	4130	c.4091T>G	c.(4090-4092)tTg>tGg	p.L1364W	INSR_ENST00000302850.5_Missense_Mutation_p.L1376W	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1376	PIK3R1-binding.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGACCGAGGCAAGGTCAGAAT	0.567													False	0	False	19:7117089	0	C	7117089	A	C	7117089	3	2	91	1	0	0	0	0	1	0	0	0	7823	131	5	4	25	4	INSR	19	7117089	Missense_Mutation	SNP	A	TCGA-IB-7886-01A-11D-2154-08		7117089	52011894	57	28973											
FBN3	84467	broad.mit.edu	37	chr19	8159361	8159362	+	Frame_Shift_Ins	INS	-	-	T													cactctgcacctggaagccaINSgggggacagatgcagcggaa					rs7245429	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:8159361_8159362insT	ENST00000600128.1	-	47	6287_6288	c.5873_5874insA	c.(5872-5874)cctfs	p.P1958fs	FBN3_ENST00000270509.2_Frame_Shift_Ins_p.P1958fs|FBN3_ENST00000601739.1_Frame_Shift_Ins_p.P1958fs			Q75N90	FBN3_HUMAN	fibrillin 3	1958	EGF-like 31; calcium-binding.		P -> H (in dbSNP:rs7245429).			proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTGGAAGCCAGGGGGACAGAT	0.589													False	0	True	19:8159361	0	T	8159362	-	T	8159361	7	5	91	1	0	1	1	0	0	0	0	0	5744	175	7	0	2627	0	FBN3	19	8159361	Frame_Shift_Ins	INS	-	TCGA-IB-7886-01A-11D-2154-08	1042272	8159361	50969622	58	28974											
ZNF561	93134	broad.mit.edu	37	chr19	9727815	9727815	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcccactcctctggggtgaaGtccacagccacatcatcaaa	8	15	3	1			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:9727815G>C	ENST00000302851.3	-	4	510	c.147C>G	c.(145-147)gaC>gaG	p.D49E	ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000354661.4_5'UTR|ZNF561_ENST00000424629.1_5'UTR|ZNF561_ENST00000326044.5_Missense_Mutation_p.D49E	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CTGGGGTGAAGTCCACAGCCA	0.463													False	0	False	19:9727815	0	C	9727815	G	C	9727815	3	2	91	1	0	0	0	0	1	0	0	0	18075	1020	36	5	1325	5	ZNF561	19	9727815	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08	1568454	9727815	49401168	59	28975											
CYP4F22	126410	broad.mit.edu	37	chr19	15651359	15651359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgacttcatttactaccGctcggcggatgggcggaggt	13	12	1	0			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:15651359G>A	ENST00000269703.3	+	8	969	c.770G>A	c.(769-771)cGc>cAc	p.R257H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R257H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ATTTACTACCGCTCGGCGGAT	0.582													False	0	False	19:15651359	0	A	15651359	G	A	15651359	3	1	91	1	0	0	0	0	1	0	0	0	4214	1087	38	1	792	1	CYP4F22	19	15651359	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08	5923544	15651359	43477624	60	28976											
ZNF99	7652	broad.mit.edu	37	chr19	22940448	22940448	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcagggtttctctgcagtatGaattaccttatgtacagtaa	9	7	1	1			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:22940448G>T	ENST00000397104.3	-	5	1989	c.1990C>A	c.(1990-1992)Cat>Aat	p.H664N	ZNF99_ENST00000596209.1_Missense_Mutation_p.H755N					zinc finger protein 99									p.H664D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTGCAGTATGAATTACCTTA	0.353													False	0	False	19:22940448	0	T	22940448	G	T	22940448	3	4	91	1	0	0	0	0	1	0	0	0	18286	1290	45	3	1134	3	ZNF99	19	22940448	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08	7289089	22940448	36188535	61	28977											
CNTD2	79935	broad.mit.edu	37	chr19	40729348	40729348	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgaggcacagcagcgggcCggggtggtgcagccggaaat	18	12	0	0			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:40729348C>A	ENST00000430325.2	-	4	667	c.619G>T	c.(619-621)Ggc>Tgc	p.G207C	CNTD2_ENST00000513948.1_Missense_Mutation_p.G101C	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	207					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						AGCAGCGGGCCGGGGTGGTGC	0.726													False	0	True	19:40729348	0	A	40729348	C	A	40729348	3	1	91	1	0	0	0	0	1	0	0	0	3659	652	23	3	312	3	CNTD2	19	40729348	Missense_Mutation	SNP	C	TCGA-IB-7886-01A-11D-2154-08	17788900	40729348	18399635	62	28978											
CEACAM3	1084	broad.mit.edu	37	chr19	42312866	42312866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaagaaaatgccccagGccttcctgtgggggccgtcg	14	12	0	2			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:42312866G>A	ENST00000357396.3	+	3	681	c.440G>A	c.(439-441)gGc>gAc	p.G147D	CEACAM3_ENST00000221999.4_Missense_Mutation_p.G147D|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.G147D	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	147						integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AATGCCCCAGGCCTTCCTGTG	0.612													False	0	False	19:42312866	0	A	42312866	G	A	42312866	3	1	91	1	0	0	0	0	1	0	0	0	3216	1203	42	2	450	2	CEACAM3	19	42312866	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08	1583518	42312866	16816117	63	28979											
CIC	23152	broad.mit.edu	37	chr19	42797190	42797190	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagaaagtgaaggcagccatCgccagcattcccgtggggtc	13	12	0	2			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:42797190C>A	ENST00000572681.2	+	16	6341	c.6273C>A	c.(6271-6273)atC>atA	p.I2091I	CIC_ENST00000575354.2_Silent_p.I1184I|CIC_ENST00000160740.3_Silent_p.I1182I			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGCAGCCATCGCCAGCATTC	0.662			"Mis, F, S"		oligodendroglioma								False	0	False	19:42797190	0	A	42797190	C	A	42797190	2	1	91	1	0	0	0	0	0	0	0	1	3447	874	31	3		3	CIC	19	42797190	Silent	SNP	C	TCGA-IB-7886-01A-11D-2154-08	484324	42797190	16331793	64	28980											
KCNA7	3743	broad.mit.edu	37	chr19	49573363	49573365	+	In_Frame_Del	DEL	GGA	GGA	-													tccctgggggtgcccagagtGgaggtggtagctcaggtacc					rs79563011		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	GGA	GGA	-	-	GGA	GGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:49573363_49573365delGGA	ENST00000221444.1	-	2	1681_1683	c.1326_1328delTCC	c.(1324-1329)cctcca>cca	p.442_443PP>P		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	442						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		TGCCCAGAGTGGAGGTGGTAGCT	0.631													False	1	False	19:49573363	0	-	49573365	GGA	-	49573363	7	5	91	1	0	1	0	1	0	0	0	0	8058	1348	47	0	46	0	KCNA7	19	49573363	In_Frame_Del	DEL	GGA	TCGA-IB-7886-01A-11D-2154-08	6776173	49573363	9555620	65	28981											
ALDH16A1	126133	broad.mit.edu	37	chr19	49971707	49971707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgctggctgtggtgtgtccgGacgagtggcccctgcttgcc	16	12	0	0			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:49971707G>T	ENST00000293350.4	+	15	2171	c.2008G>T	c.(2008-2010)Gac>Tac	p.D670Y	ALDH16A1_ENST00000540132.1_Missense_Mutation_p.D507Y|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.D505Y|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D619Y	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	670							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGTGTGTCCGGACGAGTGGCC	0.697													False	0	False	19:49971707	0	T	49971707	G	T	49971707	3	4	91	1	0	0	0	0	1	0	0	0	488	1174	41	3	2066	3	ALDH16A1	19	49971707	Missense_Mutation	SNP	G	TCGA-IB-7886-01A-11D-2154-08	398344	49971707	9157276	66	28982											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46012225	46012226	+	In_Frame_Ins	INS	-	-	CAGCAGCTGGGGGCA													tcaggcagggggccggggcgINScagcaggggggctcacagca							TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr21:46012225_46012226insCAGCAGCTGGGGGCA	ENST00000400368.1	-	1	160_161	c.140_141insTGCCCCCAGCTGCTG	c.(139-141)tgc>tgTGCCCCCAGCTGCTGc	p.47_47C>CAPSCC	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	47	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGGCCGGGGCGCAGCAGGGGGG	0.683													False	0	False	21:46012225	0	CAGCAGCTGGGGGCA	46012226	-	CAGCAGCTGGGGGCA	46012225	7	5	91	1	0	1	1	0	0	0	0	0	8563	1079	38	0	960	0	KRTAP10-6	21	46012225	In_Frame_Ins	INS	-	TCGA-IB-7886-01A-11D-2154-08		46012225	2117670	67	28983											
BMP15	9210	broad.mit.edu	37	chrX	50659210	50659211	+	In_Frame_Ins	INS	-	-	TCT													gagttcatggaaagggaatcINStcttctccggagaacccgac					rs111889793		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:50659210_50659211insTCT	ENST00000252677.3	+	2	782_783	c.782_783insTCT	c.(781-786)tctctt>tcTCTtctt	p.263_264insL		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	263			L -> LL (no or minor deleterious effect detected).		female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GAAAGGGAATCTCTTCTCCGGA	0.465													False	2	False	X:50659210	0	TCT	50659211	-	TCT	50659210	7	5	91	1	0	1	1	0	0	0	0	0	1463	913	32	0	788	0	BMP15	23	50659210	In_Frame_Ins	INS	-	TCGA-IB-7886-01A-11D-2154-08		50659210	104611350	68	28984											
ARMCX1	51309	broad.mit.edu	37	chrX	100808322	100808322	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaccatctctgggaacaggAcccttgcaccgagtttaccc	9	14	1	0			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:100808322A>G	ENST00000372829.3	+	4	780	c.409A>G	c.(409-411)Acc>Gcc	p.T137A		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	137						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TGGGAACAGGACCCTTGCACC	0.612													False	0	True	X:100808322	0	G	100808322	A	G	100808322	3	3	91	1	0	0	0	0	1	0	0	0	963	275	10	4	411	4	ARMCX1	23	100808322	Missense_Mutation	SNP	A	TCGA-IB-7886-01A-11D-2154-08	50149112	100808322	54462238	69	28985											
GNB1	2782	broad.mit.edu	37	chr1	1722017	1722018	+	Frame_Shift_Ins	INS	-	-	AGATTGCTAAATT													tggtcgtctgctggccggtcINStcgatgtcccacagggcact							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:1722017_1722018insAGATTGCTAAATT	ENST00000378609.4	-	9	846_847	c.515_516insAATTTAGCAATCT	c.(514-516)gagfs	p.-172fs		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1						cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCTGGCCGGTCTCGATGTCCCA	0.535													False	0	False	1:1722017	0	AGATTGCTAAATT	1722018	-	AGATTGCTAAATT	1722017	7	5	92	1	0	1	1	0	0	0	0	0	6560	912	32	0	518	0	GNB1	1	1722017	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08		1722017	247528604	1	28986											
TMCO4	255104	broad.mit.edu	37	chr1	20009876	20009877	+	Frame_Shift_Ins	INS	-	-	CAGTA													gtcccagcctggcttggtgcINSggatgcccacggccttcagg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:20009876_20009877insCAGTA	ENST00000294543.6	-	16	1802_1803	c.1561_1562insTACTG	c.(1561-1563)cgcfs	p.R521fs	TMCO4_ENST00000375122.2_Frame_Shift_Ins_p.R481fs|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Frame_Shift_Ins_p.R521fs	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	521						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGGCTTGGTGCGGATGCCCACG	0.668													False	0	False	1:20009876	0	CAGTA	20009877	-	CAGTA	20009876	7	5	92	1	0	1	1	0	0	0	0	0	16080	768	27	0	346	0	TMCO4	1	20009876	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	18287859	20009876	229240745	2	28987											
EIF4G3	8672	broad.mit.edu	37	chr1	21307660	21307661	+	Frame_Shift_Ins	INS	-	-	TGTGGTATTA													gtctgtgcaccaggacgaatINSggaaggactgctgttcggga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:21307660_21307661insTGTGGTATTA	ENST00000602326.1	-	7	694_695	c.111_112insTAATACCACA	c.(109-114)tccattfs	p.I38fs	EIF4G3_ENST00000264211.8_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000400422.1_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000374937.3_Frame_Shift_Ins_p.I38fs|EIF4G3_ENST00000374935.3_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000374927.4_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000356916.3_Frame_Shift_Ins_p.I42fs	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	31					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CCAGGACGAATGGAAGGACTGC	0.49													False	0	False	1:21307660	0	TGTGGTATTA	21307661	-	TGTGGTATTA	21307660	7	5	92	1	0	1	1	0	0	0	0	0	5070	1464	51	0	4782	0	EIF4G3	1	21307660	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1297784	21307660	227942961	3	28988											
EYA3	2140	broad.mit.edu	37	chr1	28362170	28362171	+	Frame_Shift_Ins	INS	-	-	TTGATCA													cagtttccgaaacaggaactINSgagagaatatgtgcataagg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:28362170_28362171insTTGATCA	ENST00000373871.3	-	6	485_486	c.245_246insTGATCAA	c.(244-246)tcafs	p.-82fs	EYA3_ENST00000373863.3_Frame_Shift_Ins_p.-82fs|EYA3_ENST00000540618.1_Frame_Shift_Ins_p.-82fs|EYA3_ENST00000545175.1_Frame_Shift_Ins_p.-29fs|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000436342.2_5'UTR			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)						anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AAACAGGAACTGAGAGAATATG	0.401													False	0	True	1:28362170	0	TTGATCA	28362171	-	TTGATCA	28362170	7	5	92	1	0	1	1	0	0	0	0	0	5363	1567	55	0	1527	0	EYA3	1	28362170	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	7054510	28362170	220888451	4	28989											
PUM1	9698	broad.mit.edu	37	chr1	31439012	31439013	+	Frame_Shift_Ins	INS	-	-	ATATGCTCTTAAGA													gccaggttgttattgggctgINSctgctggggctggggctgag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:31439012_31439013insATATGCTCTTAAGA	ENST00000373747.3	-	13	2004_2005	c.1905_1906insTCTTAAGAGCATAT	c.(1903-1908)cagcagfs	p.Q636fs	PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q671fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q609fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q576fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q491fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q635fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q393fs|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q635fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	635					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTATTgggctgctgctggggct	0.559													False	0	True	1:31439012	0	ATATGCTCTTAAGA	31439013	-	ATATGCTCTTAAGA	31439012	7	5	92	1	0	1	1	0	0	0	0	0	12904	1328	46	0	1703	0	PUM1	1	31439012	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	3076842	31439012	217811609	5	28990											
CLSPN	63967	broad.mit.edu	37	chr1	36202191	36202192	+	Frame_Shift_Ins	INS	-	-	GAATT													aggagaagtcatgaaagatgINSgaccccttttctttacctag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:36202191_36202192insGAATT	ENST00000318121.3	-	25	3982_3983	c.3925_3926insAATTC	c.(3925-3927)ccafs	p.P1309fs	CLSPN_ENST00000251195.5_Intron|CLSPN_ENST00000466308.1_5'UTR|CLSPN_ENST00000373220.3_Frame_Shift_Ins_p.P1245fs|CLSPN_ENST00000520551.1_Frame_Shift_Ins_p.P1256fs	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1309					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATGAAAGATGGACCCCTTTTC	0.421													False	0	False	1:36202191	0	GAATT	36202192	-	GAATT	36202191	7	5	92	1	0	1	1	0	0	0	0	0	3583	1348	47	0	97	0	CLSPN	1	36202191	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	4763179	36202191	213048430	6	28991											
RRAGC	64121	broad.mit.edu	37	chr1	39305328	39305328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcacacccacctcaaaaAcctcatgaatagcttttcgg	5	13	3	1			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:39305328A>C	ENST00000373001.3	-	7	1273	c.1097T>G	c.(1096-1098)gTt>gGt	p.V366G	RRAGC_ENST00000474456.1_5'UTR	NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	366					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				CACCTCAAAAACCTCATGAAT	0.458													False	0	True	1:39305328	0	C	39305328	A	C	39305328	3	2	92	1	0	0	0	0	1	0	0	0	13753	43	2	4	106	4	RRAGC	1	39305328	Missense_Mutation	SNP	A	TCGA-IB-7887-01A-11D-2154-08	3103137	39305328	209945293	7	28992											
MACF1	23499	broad.mit.edu	37	chr1	39888208	39888209	+	Splice_Site	INS	-	-	CTA													gaatacattgaataaaaaggINStgagtgacaatggggtagca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:39888208_39888209insCTA	ENST00000372915.3	+	58	16080		c.e58+1		MACF1_ENST00000545844.1_Splice_Site|MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000564288.1_Splice_Site|MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000289893.4_Splice_Site|MACF1_ENST00000567887.1_Splice_Site|MACF1_ENST00000317713.7_Splice_Site			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAATAAAAAGGTGAGTGACAAT	0.396													False	0	True	1:39888208	0	CTA	39888209	-	CTA	39888208	8	5	92	1	0	1	1	0	0	0	1	0	9207	1275	44	0	16158	0	MACF1	1	39888208	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	582880	39888208	209362413	8	28993											
RLF	6018	broad.mit.edu	37	chr1	40704145	40704146	+	Frame_Shift_Ins	INS	-	-	ATGTTTATTTTTATAAT													gtagttctgaaacagatttgINSgaatcatcttgtgaagaaac							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:40704145_40704146insATGTTTATTTTTATAAT	ENST00000372771.4	+	8	3798_3799	c.3771_3772insATGTTTATTTTTATAAT	c.(3772-3774)gaafs	p.E1258fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1258					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAACAGATTTGGAATCATCTTG	0.411													False	0	False	1:40704145	0	ATGTTTATTTTTATAAT	40704146	-	ATGTTTATTTTTATAAT	40704145	7	5	92	1	0	1	1	0	0	0	0	0	13468	1339	47	0	3801	0	RLF	1	40704145	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	815937	40704145	208546476	9	28994											
CCDC30	728621	broad.mit.edu	37	chr1	43047133	43047134	+	In_Frame_Ins	INS	-	-	ACATAG													ggaaaagataaaagaagcaaINScacaaaatgaagctaaagta							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:43047133_43047134insACATAG	ENST00000340612.4	+	7	1168_1169	c.1168_1169insACATAG	c.(1168-1170)aca>aACATAGca	p.390_390T>NIA	CCDC30_ENST00000342022.4_In_Frame_Ins_p.390_390T>NIA|CCDC30_ENST00000390640.4_In_Frame_Ins_p.179_179T>NIA|CCDC30_ENST00000428554.2_In_Frame_Ins_p.390_390T>NIA|CCDC30_ENST00000507855.1_In_Frame_Ins_p.179_179T>NIA			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	390										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAAAGAAGCAACACAAAATGAA	0.406													False	0	False	1:43047133	0	ACATAG	43047134	-	ACATAG	43047133	7	5	92	1	0	1	1	0	0	0	0	0	2826	43	2	0	1194	0	CCDC30	1	43047133	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2342988	43047133	206203488	10	28995											
ZYG11B	79699	broad.mit.edu	37	chr1	53287249	53287249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagaaaaacacattgtgcGccatgggaggccacctccct	9	13	0	1	rs151077871		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:53287249G>A	ENST00000294353.6	+	14	2328	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	ZYG11B_ENST00000443756.2_Missense_Mutation_p.R658H	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	728							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CACATTGTGCGCCATGGGAGG	0.418													False	0	False	1:53287249	0	A	53287249	G	A	53287249	3	1	92	1	0	0	0	0	1	0	0	0	18335	1087	38	1	2237	1	ZYG11B	1	53287249	Missense_Mutation	SNP	G	TCGA-IB-7887-01A-11D-2154-08	10240116	53287249	195963372	11	28996											
DIO1	1733	broad.mit.edu	37	chr1	54370453	54370454	+	Frame_Shift_Ins	INS	-	-	ACAAGCAC													tccatagcagattttcttgtINScatttacattgaagaagcac							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:54370453_54370454insACAAGCAC	ENST00000361921.3	+	2	476_477	c.452_453insACAAGCAC	c.(451-456)gtcattfs	p.I152fs	DIO1_ENST00000524406.1_Frame_Shift_Ins_p.I23fs|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000322679.6_Frame_Shift_Ins_p.I152fs|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Frame_Shift_Ins_p.I88fs	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	152					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GATTTTCTTGTCATTTACATTG	0.411													False	0	False	1:54370453	0	ACAAGCAC	54370454	-	ACAAGCAC	54370453	7	5	92	1	0	1	1	0	0	0	0	0	4554	1667	58	0	458	0	DIO1	1	54370453	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1083204	54370453	194880168	12	28997											
OMA1	115209	broad.mit.edu	37	chr1	58999992	58999993	+	In_Frame_Ins	INS	-	-	TTATTG													ttagcatatcatttttaaatINStcttccatccactgaaagat							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:58999992_58999993insTTATTG	ENST00000371226.3	-	4	853_854	c.740_741insCAATAA	c.(739-741)gaa>gaCAATAAa	p.247_247E>DNK	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_In_Frame_Ins_p.247_247E>DNK	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	247					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					CATTTTTAAATTCTTCCATCCA	0.327													False	0	False	1:58999992	0	TTATTG	58999993	-	TTATTG	58999992	7	5	92	1	0	1	1	0	0	0	0	0	10932	1490	52	0	857	0	OMA1	1	58999992	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	4629539	58999992	190250629	13	28998	322	2									
OMA1	115209	broad.mit.edu	37	chr1	58999994	58999995	+	Frame_Shift_Ins	INS	-	-	CTTATTTT													agcatatcatttttaaattcINSttccatccactgaaagatta							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:58999994_58999995insCTTATTTT	ENST00000371226.3	-	4	851_852	c.738_739insAAAATAAG	c.(736-741)gaagaafs	p.E247fs	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_Frame_Shift_Ins_p.E247fs	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	247					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	p.E247*(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTTTTAAATTCTTCCATCCACT	0.322													False	0	True	1:58999994	0	CTTATTTT	58999995	-	CTTATTTT	58999994	7	5	92	1	0	1	1	0	0	0	0	0	10932	922	32	0	859	0	OMA1	1	58999994	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	58999994	190250627	14	28999	322	2									
RAVER2	55225	broad.mit.edu	37	chr1	65243760	65243761	+	Frame_Shift_Ins	INS	-	-	TCCATAG													ttttttccagtgtccataaaINScctgtgttttgccaggtatg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:65243760_65243761insTCCATAG	ENST00000371072.4	+	3	849_850	c.771_772insTCCATAG	c.(772-774)cctfs	p.P258fs	RAVER2_ENST00000430964.2_5'UTR|RAVER2_ENST00000294428.3_Frame_Shift_Ins_p.P258fs	NM_018211.3	NP_060681.2	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	258	RRM 3.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GTGTCCATAAACCTGTGTTTTG	0.322													False	0	True	1:65243760	0	TCCATAG	65243761	-	TCCATAG	65243760	7	5	92	1	0	1	1	0	0	0	0	0	13174	40	2	0	781	0	RAVER2	1	65243760	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	6243766	65243760	184006861	15	29000											
SLC44A5	204962	broad.mit.edu	37	chr1	75684247	75684248	+	In_Frame_Ins	INS	-	-	TCAAGTGGC													ttttttcatggcccagtaatINSaagtagcgaatgcaccagca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:75684247_75684248insTCAAGTGGC	ENST00000370855.5	-	17	1569_1570	c.1456_1457insGCCACTTGA	c.(1456-1458)tat>tGCCACTTGAat	p.486_486Y>CHLN	SLC44A5_ENST00000535611.1_In_Frame_Ins_p.356_356Y>CHLN|SLC44A5_ENST00000370859.3_In_Frame_Ins_p.486_486Y>CHLN	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	486						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGCCCAGTAATAAGTAGCGAAT	0.431													False	0	False	1:75684247	0	TCAAGTGGC	75684248	-	TCAAGTGGC	75684247	7	5	92	1	0	1	1	0	0	0	0	0	14719	1406	49	0	845	0	SLC44A5	1	75684247	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	10440487	75684247	173566374	16	29001											
DNASE2B	58511	broad.mit.edu	37	chr1	84876638	84876639	+	Frame_Shift_Ins	INS	-	-	ATAAATCAGAAAAACAAAGCTTCTTTTA													gggagacgaaatggacaaagINStggcatctgcataactttca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:84876638_84876639insATAAATCAGAAAAACAAAGCTTCTTTTA	ENST00000370665.3	+	4	536_537	c.503_504insATAAATCAGAAAAACAAAGCTTCTTTTA	c.(502-507)agtggcfs	p.SG168fs	DNASE2B_ENST00000370662.3_5'UTR	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	168					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		AATGGACAAAGTGGCATCTGCA	0.401													False	0	False	1:84876638	0	ATAAATCAGAAAAACAAAGCTTCTTTTA	84876639	-	ATAAATCAGAAAAACAAAGCTTCTTTTA	84876638	7	5	92	1	0	1	1	0	0	0	0	0	4695	1029	36	0	517	0	DNASE2B	1	84876638	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	9192391	84876638	164373983	17	29002											
SSX2IP	117178	broad.mit.edu	37	chr1	85116188	85116189	+	Frame_Shift_Ins	INS	-	-	GCTAAGGG													gcggctgcctcgagtgcactINSataagattgtcccaatcaga					rs139023868	by1000genomes	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:85116188_85116189insGCTAAGGG	ENST00000437941.2	-	12	1797_1798	c.1445_1446insCCCTTAGC	c.(1444-1446)atafs	p.-482fs	SSX2IP_ENST00000370612.4_Frame_Shift_Ins_p.-509fs|SSX2IP_ENST00000603677.1_Frame_Shift_Ins_p.-28fs|SSX2IP_ENST00000605755.1_Frame_Shift_Ins_p.-482fs|SSX2IP_ENST00000342203.3_Frame_Shift_Ins_p.-509fs	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein						cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCGAGTGCACTATAAGATTGTC	0.411													False	0	False	1:85116188	0	GCTAAGGG	85116189	-	GCTAAGGG	85116188	7	5	92	1	0	1	1	0	0	0	0	0	15286	1512	53	0	325	0	SSX2IP	1	85116188	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	239550	85116188	164134433	18	29003											
RPAP2	79871	broad.mit.edu	37	chr1	92846390	92846391	+	Frame_Shift_Ins	INS	-	-	TGATAAGGGCAAAG													aaaaaatgaagaccttgaaaINSgtctaaccatcatatttaga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:92846390_92846391insTGATAAGGGCAAAG	ENST00000370343.3	+	12	1907_1908	c.1798_1799insTGATAAGGGCAAAG	c.(1798-1800)agtfs	p.S600fs		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	600						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGACCTTGAAAGTCTAACCATC	0.351													False	0	True	1:92846390	0	TGATAAGGGCAAAG	92846391	-	TGATAAGGGCAAAG	92846390	7	5	92	1	0	1	1	0	0	0	0	0	13621	72	3	0	1844	0	RPAP2	1	92846390	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	7730202	92846390	156404231	19	29004											
EXTL2	2135	broad.mit.edu	37	chr1	101339575	101339576	+	Frame_Shift_Ins	INS	-	-	ATGTATTTTTTTAAGCAAC													gagtatcttaagggcatgctINSatcatagatattaacaagct							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:101339575_101339576insATGTATTTTTTTAAGCAAC	ENST00000370114.3	-	5	2351_2352	c.915_916insGTTGCTTAAAAAAATACAT	c.(913-918)gatagcfs	p.S306fs	EXTL2_ENST00000370113.3_Frame_Shift_Ins_p.S306fs|EXTL2_ENST00000535414.1_Frame_Shift_Ins_p.S293fs	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	306					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		AAGGGCATGCTATCATAGATAT	0.351													False	0	False	1:101339575	0	ATGTATTTTTTTAAGCAAC	101339576	-	ATGTATTTTTTTAAGCAAC	101339575	7	5	92	1	0	1	1	0	0	0	0	0	5359	1522	53	0	80	0	EXTL2	1	101339575	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	8493185	101339575	147911046	20	29005											
SORT1	6272	broad.mit.edu	37	chr1	109888457	109888458	+	Frame_Shift_Ins	INS	-	-	GTTATATTTAGTA													caatagttttgaagctttttINScccaagtctgaagttctcca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:109888457_109888458insGTTATATTTAGTA	ENST00000256637.6	-	8	936_937	c.878_879insTACTAAATATAAC	c.(877-879)ggafs	p.-293fs	SORT1_ENST00000538502.1_Frame_Shift_Ins_p.-156fs	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1						endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGAAGCTTTTTCCCAAGTCTGA	0.396													False	0	True	1:109888457	0	GTTATATTTAGTA	109888458	-	GTTATATTTAGTA	109888457	7	5	92	1	0	1	1	0	0	0	0	0	15015	1770	62	0	1668	0	SORT1	1	109888457	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	8548882	109888457	139362164	21	29006											
MAGI3	260425	broad.mit.edu	37	chr1	114128213	114128214	+	In_Frame_Ins	INS	-	-	TTACTAATGTTG													gctattaatggcagtggaaaINScgcaggtttgtaaatagatg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:114128213_114128214insTTACTAATGTTG	ENST00000307546.9	+	4	833_834	c.758_759insTTACTAATGTTG	c.(757-762)aacgca>aaTTACTAATGTTGcgca	p.253_254NA>NY*CCA	MAGI3_ENST00000369617.4_In_Frame_Ins_p.253_254NA>NY*CCA|MAGI3_ENST00000369615.1_In_Frame_Ins_p.253_254NA>NY*CCA|MAGI3_ENST00000369611.4_In_Frame_Ins_p.253_254NA>NY*CCA	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	253	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAGTGGAAACGCAGGTTTGT	0.356													False	0	True	1:114128213	0	TTACTAATGTTG	114128214	-	TTACTAATGTTG	114128213	7	5	92	1	0	1	1	0	0	0	0	0	9259	43	2	0	772	0	MAGI3	1	114128213	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	4239756	114128213	135122408	22	29007											
CASQ2	845	broad.mit.edu	37	chr1	116243875	116243877	+	In_Frame_Del	DEL	TCG	TCG	-													agttgggctattcatcatcaTcgtcatcactgtcatcatta					rs7413162	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:116243875_116243877delTCG	ENST00000261448.5	-	11	1424_1426	c.1185_1187delCGA	c.(1183-1188)gacgat>gat	p.395_396DD>D	CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	395	Asp/Glu-rich (acidic).				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		Ttcatcatcatcgtcatcactgt	0.404													False	1	True	1:116243875	0	-	116243877	TCG	-	116243875	7	5	92	1	0	1	0	1	0	0	0	0	2701	1435	50	0	16	0	CASQ2	1	116243875	In_Frame_Del	DEL	TCG	TCGA-IB-7887-01A-11D-2154-08	2115662	116243875	133006746	23	29008											
CD2	914	broad.mit.edu	37	chr1	117297419	117297420	+	In_Frame_Ins	INS	-	-	TTACTGAGAGTC													aattcagaaaagagaaagagINSactttcaaggaaaaagatac							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:117297419_117297420insTTACTGAGAGTC	ENST00000369478.3	+	2	336_337	c.228_229insTTACTGAGAGTC	c.(229-231)act>TTACTGAGAGTCact	p.76_77insLLRV	CD2_ENST00000369477.1_In_Frame_Ins_p.76_77insLLRV	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	76	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAGAGAAAGAGACTTTCAAGGA	0.307													False	0	False	1:117297419	0	TTACTGAGAGTC	117297420	-	TTACTGAGAGTC	117297419	7	5	92	1	0	1	1	0	0	0	0	0	3002	933	33	0	234	0	CD2	1	117297419	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1053544	117297419	131953202	24	29009											
FLG	2312	broad.mit.edu	37	chr1	152277769	152277769	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acccctctgattgtccctggActgcctgtgagtgtctagag	11	12	2	3	rs143183339		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:152277769A>C	ENST00000368799.1	-	3	9628	c.9593T>G	c.(9592-9594)gTc>gGc	p.V3198G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3198	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCCCTGGACTGCCTGTGA	0.552									Ichthyosis				False	0	False	1:152277769	0	C	152277769	A	C	152277769	3	2	92	1	0	0	0	0	1	0	0	0	5962	275	10	4	2596	4	FLG	1	152277769	Missense_Mutation	SNP	A	TCGA-IB-7887-01A-11D-2154-08	34980350	152277769	96972852	25	29010											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	92	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-IB-7887-01A-11D-2154-08	393746	152671515	96579106	26	29011											
AQP10	89872	broad.mit.edu	37	chr1	154296269	154296270	+	Frame_Shift_Ins	INS	-	-	AA													ctacgtggctggctggggtcINSctgaagtcttcaggtgggag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:154296269_154296270insAA	ENST00000484864.1	+	5	730_731	c.694_695insAA	c.(694-696)cctfs	p.P232fs	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Frame_Shift_Ins_p.P232fs			Q96PS8	AQP10_HUMAN	aquaporin 10	232					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGCTGGGGTCCTGAAGTCTTC	0.619													False	0	False	1:154296269	0	AA	154296270	-	AA	154296269	7	5	92	1	0	1	1	0	0	0	0	0	824	855	30	0	712	0	AQP10	1	154296269	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1624754	154296269	94954352	27	29012											
OR10K2	391107	broad.mit.edu	37	chr1	158390039	158390039	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacaataaggggatagccagGaccaatgtacagagcatgaa	11	7	0	2			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:158390039G>A	ENST00000314902.2	-	1	617	c.618C>T	c.(616-618)gtC>gtT	p.V206V		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGATAGCCAGGACCAATGTAC	0.443													False	0	False	1:158390039	0	A	158390039	G	A	158390039	2	1	92	1	0	0	0	0	0	0	0	1	10982	1161	41	2		2	OR10K2	1	158390039	Silent	SNP	G	TCGA-IB-7887-01A-11D-2154-08	4093770	158390039	90860582	28	29013											
UAP1	6675	broad.mit.edu	37	chr1	162551155	162551156	+	Frame_Shift_Ins	INS	-	-	ATCAAAATCCATCATAAAGGTAACACAAAGA													caaagaggcatttggagcatINStcatgtctattgtgttgaca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:162551155_162551156insATCAAAATCCATCATAAAGGTAACACAAAGA	ENST00000367926.4	+	5	1042_1043	c.740_741insATCAAAATCCATCATAAAGGTAACACAAAGA	c.(739-744)attcatfs	p.H248fs	UAP1_ENST00000367925.1_Frame_Shift_Ins_p.H248fs|UAP1_ENST00000271469.3_Frame_Shift_Ins_p.H248fs|UAP1_ENST00000367924.1_Frame_Shift_Ins_p.H248fs	NM_003115.4	NP_003106.3	Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	248					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATTTGGAGCATTCATGTCTATT	0.436													False	0	False	1:162551155	0	ATCAAAATCCATCATAAAGGTAACACAAAGA	162551156	-	ATCAAAATCCATCATAAAGGTAACACAAAGA	162551155	7	5	92	1	0	1	1	0	0	0	0	0	16909	1493	52	0	754	0	UAP1	1	162551155	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	4161116	162551155	86699466	29	29014											
DDR2	4921	broad.mit.edu	37	chr1	162749980	162749981	+	Frame_Shift_Ins	INS	-	-	CGGGGGAAAGGGAAGT													ctggagaagagatacgaagaINSaccgtccctcattccaagaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:162749980_162749981insCGGGGGAAAGGGAAGT	ENST00000367922.2	+	19	2950_2951	c.2512_2513insCGGGGGAAAGGGAAGT	c.(2512-2514)aacfs	p.N838fs	DDR2_ENST00000367921.3_Frame_Shift_Ins_p.N838fs	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	838	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			AGATACGAAGAACCGTCCCTCA	0.5													False	0	False	1:162749980	0	CGGGGGAAAGGGAAGT	162749981	-	CGGGGGAAAGGGAAGT	162749980	7	5	92	1	0	1	1	0	0	0	0	0	4362	246	9	0	2574	0	DDR2	1	162749980	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	198825	162749980	86500641	30	29015											
DCAF6	55827	broad.mit.edu	37	chr1	167944217	167944218	+	In_Frame_Ins	INS	-	-	AGAAAGCAGTTAATGGTAACTTAT													atgcagaaaccaacagacaaINStgccaatttacgtgtcatta							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:167944217_167944218insAGAAAGCAGTTAATGGTAACTTAT	ENST00000367840.3	+	4	496_497	c.402_403insAGAAAGCAGTTAATGGTAACTTAT	c.(403-405)tgc>AGAAAGCAGTTAATGGTAACTTATtgc	p.134_135insRKQLMVTY	DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000312263.6_In_Frame_Ins_p.134_135insRKQLMVTY|DCAF6_ENST00000432587.2_In_Frame_Ins_p.103_104insRKQLMVTY|DCAF6_ENST00000367843.3_In_Frame_Ins_p.134_135insRKQLMVTY	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	134					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CCAACAGACAATGCCAATTTAC	0.307													False	0	False	1:167944217	0	AGAAAGCAGTTAATGGTAACTTAT	167944218	-	AGAAAGCAGTTAATGGTAACTTAT	167944217	7	5	92	1	0	1	1	0	0	0	0	0	4299	98	4	0	416	0	DCAF6	1	167944217	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	5194237	167944217	81306404	31	29016											
ATP1B1	481	broad.mit.edu	37	chr1	169096638	169096639	+	In_Frame_Ins	INS	-	-	CTGGGC													caaccgagttctaggcttcaINSaacctaaggcaagtaatatt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:169096638_169096639insCTGGGC	ENST00000367816.1	+	5	1088_1089	c.559_560insCTGGGC	c.(559-561)aaa>aCTGGGCaa	p.187_187K>TGQ	ATP1B1_ENST00000499679.3_In_Frame_Ins_p.131_131K>TGQ|ATP1B1_ENST00000367815.3_In_Frame_Ins_p.187_187K>TGQ|ATP1B1_ENST00000367813.3_In_Frame_Ins_p.179_179K>TGQ			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	187					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TCTAGGCTTCAAACCTAAGGCA	0.332													False	0	True	1:169096638	0	CTGGGC	169096639	-	CTGGGC	169096638	7	5	92	1	0	1	1	0	0	0	0	0	1136	131	5	0	573	0	ATP1B1	1	169096638	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1152421	169096638	80153983	32	29017											
BLZF1	8548	broad.mit.edu	37	chr1	169351345	169351346	+	Frame_Shift_Ins	INS	-	-	AATGTAAAAATTAATAATAGTAAATAGGTAAT													tgcaatggggaagagagcaaINSacttactcccctagtgtaca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:169351345_169351346insAATGTAAAAATTAATAATAGTAAATAGGTAAT	ENST00000367808.3	+	6	1266_1267	c.843_844insAATGTAAAAATTAATAATAGTAAATAGGTAAT	c.(844-846)actfs	p.T282fs	BLZF1_ENST00000329281.2_Frame_Shift_Ins_p.T282fs			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	282					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GAAGAGAGCAAACTTACTCCCC	0.416													False	0	True	1:169351345	0	AATGTAAAAATTAATAATAGTAAATAGGTAAT	169351346	-	AATGTAAAAATTAATAATAGTAAATAGGTAAT	169351345	7	5	92	1	0	1	1	0	0	0	0	0	1458	11	1	0	861	0	BLZF1	1	169351345	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	254707	169351345	79899276	33	29018	323	2									
BLZF1	8548	broad.mit.edu	37	chr1	169351347	169351348	+	In_Frame_Ins	INS	-	-	AAATAT													caatggggaagagagcaaacINSttactcccctagtgtacaac							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:169351347_169351348insAAATAT	ENST00000367808.3	+	6	1268_1269	c.845_846insAAATAT	c.(844-849)acttac>acAAATATttac	p.282_283TY>TNIY	BLZF1_ENST00000329281.2_In_Frame_Ins_p.282_283TY>TNIY			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	282					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AGAGAGCAAACTTACTCCCCTA	0.421													False	0	False	1:169351347	0	AAATAT	169351348	-	AAATAT	169351347	7	5	92	1	0	1	1	0	0	0	0	0	1458	565	20	0	863	0	BLZF1	1	169351347	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	169351347	79899274	34	29019	323	2									
F5	2153	broad.mit.edu	37	chr1	169510790	169510791	+	In_Frame_Ins	INS	-	-	AGCCATACA													atgactgtctgccagacttcINSatgttctgaggaaggggaca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:169510790_169510791insAGCCATACA	ENST00000367796.3	-	13	3753_3754	c.3552_3553insTGTATGGCT	c.(3550-3555)catgaa>catTGTATGGCTgaa	p.1184_1185HE>HCMAE	F5_ENST00000367797.3_In_Frame_Ins_p.1179_1180HE>HCMAE			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1179	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGCCAGACTTCATGTTCTGAGG	0.51													False	0	False	1:169510790	0	AGCCATACA	169510791	-	AGCCATACA	169510790	7	5	92	1	0	1	1	0	0	0	0	0	5381	835	29	0	3188	0	F5	1	169510790	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	159443	169510790	79739831	35	29020											
PIGC	5279	broad.mit.edu	37	chr1	172411015	172411016	+	Frame_Shift_Ins	INS	-	-	TAACTAGTATAGAA													agggcaaagagtacggctccINScacagcactaatggacagta							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:172411015_172411016insTAACTAGTATAGAA	ENST00000367728.1	-	1	2210_2211	c.747_748insTTCTATACTAGTTA	c.(745-750)gtgggafs	p.G250fs	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Frame_Shift_Ins_p.G250fs|PIGC_ENST00000258324.1_Frame_Shift_Ins_p.G250fs			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	250					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						AGTACGGCTCCCACAGCACTAA	0.485													False	0	True	1:172411015	0	TAACTAGTATAGAA	172411016	-	TAACTAGTATAGAA	172411015	7	5	92	1	0	1	1	0	0	0	0	0	11955	632	22	0	149	0	PIGC	1	172411015	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2900225	172411015	76839606	36	29021											
KLHL20	27252	broad.mit.edu	37	chr1	173726276	173726277	+	In_Frame_Ins	INS	-	-	ATC													aggaggccatgatggatcctINScttatctcaatagtgttgaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:173726276_173726277insATC	ENST00000209884.4	+	7	1265_1266	c.1129_1130insATC	c.(1129-1131)tct>tATCct	p.377_377S>YP	KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_188S>YP	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	377					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGATGGATCCTCTTATCTCAAT	0.371													False	0	False	1:173726276	0	ATC	173726277	-	ATC	173726276	7	5	92	1	0	1	1	0	0	0	0	0	8425	1551	54	0	1151	0	KLHL20	1	173726276	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1315261	173726276	75524345	37	29022	324	2									
KLHL20	27252	broad.mit.edu	37	chr1	173726278	173726279	+	In_Frame_Ins	INS	-	-	GAAGCA													gaggccatgatggatcctctINStatctcaatagtgttgaaag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:173726278_173726279insGAAGCA	ENST00000209884.4	+	7	1267_1268	c.1131_1132insGAAGCA	c.(1132-1134)tat>GAAGCAtat	p.377_378insEA	KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_189insEA	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	377					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ATGGATCCTCTTATCTCAATAG	0.366													False	0	False	1:173726278	0	GAAGCA	173726279	-	GAAGCA	173726278	7	5	92	1	0	1	1	0	0	0	0	0	8425	1596	56	0	1153	0	KLHL20	1	173726278	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	173726278	75524343	38	29023	324	2									
NPHS2	7827	broad.mit.edu	37	chr1	179533907	179533908	+	Frame_Shift_Ins	INS	-	-	ATTCTCACTT													aagaagccactcacaggcccINSctaagccggaggatttggta							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:179533907_179533908insATTCTCACTT	ENST00000367615.4	-	2	363_364	c.295_296insAAGTGAGAAT	c.(295-297)gggfs	p.G99fs	NPHS2_ENST00000367616.4_Frame_Shift_Ins_p.G99fs	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	99					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTCACAGGCCCCTAAGCCGGAG	0.406													False	0	True	1:179533907	0	ATTCTCACTT	179533908	-	ATTCTCACTT	179533907	7	5	92	1	0	1	1	0	0	0	0	0	10651	623	22	0	883	0	NPHS2	1	179533907	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	5807629	179533907	69716714	39	29024											
FAM129A	116496	broad.mit.edu	37	chr1	184777276	184777277	+	Frame_Shift_Ins	INS	-	-	CC													aatctgaagcggctcttgagINSatcctgcaggcgctcgtgaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:184777276_184777277insCC	ENST00000367511.3	-	10	1459_1460	c.1266_1267insGG	c.(1264-1269)gatctcfs	p.L423fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	423					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CGGCTCTTGAGATCCTGCAGGC	0.52													False	0	False	1:184777276	0	CC	184777277	-	CC	184777276	7	5	92	1	0	1	1	0	0	0	0	0	5472	942	33	0	1539	0	FAM129A	1	184777276	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	5243369	184777276	64473345	40	29025											
SYT14	255928	broad.mit.edu	37	chr1	210187063	210187064	+	Frame_Shift_Ins	INS	-	-	GAAACCCCAAACATTAAGTTAGCTTACTACC													ttctctatattaataagaagINSttctgttttgaaaatgttgg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:210187063_210187064insGAAACCCCAAACATTAAGTTAGCTTACTACC	ENST00000367015.1	+	3	339_340	c.33_34insGAAACCCCAAACATTAAGTTAGCTTACTACC	c.(34-36)ttcfs	p.F12fs	SYT14_ENST00000537238.1_Frame_Shift_Ins_p.F12fs|SYT14_ENST00000422431.1_Frame_Shift_Ins_p.F95fs|SYT14_ENST00000399639.2_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000472886.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000534859.1_Frame_Shift_Ins_p.F50fs			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	50						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTAATAAGAAGTTCTGTTTTGA	0.351													False	0	False	1:210187063	0	GAAACCCCAAACATTAAGTTAGCTTACTACC	210187064	-	GAAACCCCAAACATTAAGTTAGCTTACTACC	210187063	7	5	92	1	0	1	1	0	0	0	0	0	15552	1020	36	0	296	0	SYT14	1	210187063	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	25409787	210187063	39063558	41	29026											
HHAT	55733	broad.mit.edu	37	chr1	210761421	210761422	+	Frame_Shift_Ins	INS	-	-	A													gtccggaggctggtggagacINStccctgcatccaggacagtc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:210761421_210761422insA	ENST00000367010.1	+	10	1450_1451	c.1223_1224insA	c.(1222-1227)actcccfs	p.P409fs	HHAT_ENST00000541565.1_Frame_Shift_Ins_p.P272fs|HHAT_ENST00000537898.1_Frame_Shift_Ins_p.P344fs|HHAT_ENST00000367009.1_Frame_Shift_Ins_p.P99fs|HHAT_ENST00000261458.3_Frame_Shift_Ins_p.P409fs|HHAT_ENST00000391905.3_Frame_Shift_Ins_p.P409fs|HHAT_ENST00000308852.6_Frame_Shift_Ins_p.P364fs|HHAT_ENST00000545154.1_Frame_Shift_Ins_p.P410fs|HHAT_ENST00000545781.1_Frame_Shift_Ins_p.P346fs|HHAT_ENST00000413764.2_Frame_Shift_Ins_p.P409fs	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	409					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTGGTGGAGACTCCCTGCATCC	0.579													False	0	True	1:210761421	0	A	210761422	-	A	210761421	7	5	92	1	0	1	1	0	0	0	0	0	7136	565	20	0	1355	0	HHAT	1	210761421	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	574358	210761421	38489200	42	29027											
DUSP10	11221	broad.mit.edu	37	chr1	221879620	221879621	+	Frame_Shift_Ins	INS	-	-	TTGCTTTGAT													aggtcctgagcatcctgctcINSattgccaaggaacaggaagg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:221879620_221879621insTTGCTTTGAT	ENST00000366899.3	-	3	1237_1238	c.999_1000insATCAAAGCAA	c.(997-1002)aatgagfs	p.E334fs	DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	334					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GCATCCTGCTCATTGCCAAGGA	0.584													False	0	False	1:221879620	0	TTGCTTTGAT	221879621	-	TTGCTTTGAT	221879620	7	5	92	1	0	1	1	0	0	0	0	0	4840	835	29	0	456	0	DUSP10	1	221879620	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	11118199	221879620	27371001	43	29028											
TAF5L	27097	broad.mit.edu	37	chr1	229730411	229730411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagagaaagcacggggccaCggtggcctgtgaaaagcctc	15	11	0	2			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:229730411C>T	ENST00000258281.2	-	5	1568	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H	TAF5L_ENST00000366676.1_Missense_Mutation_p.R468H	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	468					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R468P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CACGGGGCCACGGTGGCCTGT	0.607													False	0	False	1:229730411	0	T	229730411	C	T	229730411	3	4	92	1	0	0	0	0	1	0	0	0	15611	536	19	1	370	1	TAF5L	1	229730411	Missense_Mutation	SNP	C	TCGA-IB-7887-01A-11D-2154-08	7850791	229730411	19520210	44	29029											
TFB2M	64216	broad.mit.edu	37	chr1	246704361	246704361	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttccagggtttcatcatacAgccatttataagcacaatct	5	11	3	0			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:246704361A>T	ENST00000366514.4	-	8	1348	c.1163T>A	c.(1162-1164)cTg>cAg	p.L388Q		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	388					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTCATCATACAGCCATTTATA	0.373													False	0	False	1:246704361	0	T	246704361	A	T	246704361	3	4	92	1	0	0	0	0	1	0	0	0	15876	188	7	5	31	5	TFB2M	1	246704361	Missense_Mutation	SNP	A	TCGA-IB-7887-01A-11D-2154-08	16973950	246704361	2546260	45	29030											
OR2T6	254879	broad.mit.edu	37	chr1	248551675	248551676	+	Frame_Shift_Ins	INS	-	-	CAGCA													attgttctatggggctgcctINStgtatacgtatacgcttccc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:248551675_248551676insCAGCA	ENST00000355728.2	+	1	766_767	c.766_767insCAGCA	c.(766-768)ttgfs	p.L256fs		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGGCTGCCTTGTATACGTAT	0.475													False	0	False	1:248551675	0	CAGCA	248551676	-	CAGCA	248551675	7	5	92	1	0	1	1	0	0	0	0	0	11097	1606	56	0	768	0	OR2T6	1	248551675	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1847314	248551675	698946	46	29031											
KIDINS220	57498	broad.mit.edu	37	chr2	8890457	8890458	+	In_Frame_Ins	INS	-	-	TTTATTTTT													ctgatctgctctctggcagcINSacgaacatctgaaagattca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:8890457_8890458insTTTATTTTT	ENST00000256707.3	-	24	3379_3380	c.3198_3199insAAAAATAAA	c.(3196-3201)cgtgct>cgtAAAAATAAAgct	p.1066_1067RA>RKNKA	KIDINS220_ENST00000473731.1_In_Frame_Ins_p.1066_1067RA>RKNKA|KIDINS220_ENST00000427284.1_In_Frame_Ins_p.1066_1067RA>RKNKA|KIDINS220_ENST00000418530.1_In_Frame_Ins_p.1024_1025RA>RKNKA	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1066					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCTGGCAGCACGAACATCTG	0.51													False	0	False	2:8890457	0	TTTATTTTT	8890458	-	TTTATTTTT	8890457	7	5	92	1	0	1	1	0	0	0	0	0	8321	710	25	0	2144	0	KIDINS220	2	8890457	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08		8890457	234308916	47	29032											
APOB	338	broad.mit.edu	37	chr2	21236293	21236294	+	Frame_Shift_Ins	INS	-	-	TTACCACA													gacttgaagtggagggctggINStgtcctaacagtctctaaca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:21236293_21236294insTTACCACA	ENST00000233242.1	-	25	4081_4082	c.3954_3955insTGTGGTAA	c.(3952-3957)acaccafs	p.P1319fs		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1319					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGAGGGCTGGTGTCCTAACAG	0.431													False	0	False	2:21236293	0	TTACCACA	21236294	-	TTACCACA	21236293	7	5	92	1	0	1	1	0	0	0	0	0	787	1261	44	0	9756	0	APOB	2	21236293	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	12345836	21236293	221963080	48	29033											
C2orf53	339779	broad.mit.edu	37	chr2	27360768	27360769	+	Frame_Shift_Ins	INS	-	-	CACA													tcggggtgggaaggggactgINSgcaaggtgagtggggaaggg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:27360768_27360769insCACA	ENST00000335524.3	-	3	954_955	c.429_430insTGTG	c.(427-432)tgccagfs	p.Q144fs		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	144	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					gaaggggactggcaaggtgagt	0.614													False	0	False	2:27360768	0	CACA	27360769	-	CACA	27360768	7	5	92	1	0	1	1	0	0	0	0	0	2190	1357	47	0	812	0	C2orf53	2	27360768	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	6124475	27360768	215838605	49	29034	325	2									
C2orf53	339779	broad.mit.edu	37	chr2	27360769	27360770	+	Frame_Shift_Ins	INS	-	-	TT													cggggtgggaaggggactggINScaaggtgagtggggaaggga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:27360769_27360770insTT	ENST00000335524.3	-	3	953_954	c.428_429insAA	c.(427-429)tgcfs	p.C143fs		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	143	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					aaggggactggcaaggtgagtg	0.614													False	0	False	2:27360769	0	TT	27360770	-	TT	27360769	7	5	92	1	0	1	1	0	0	0	0	0	2190	1195	42	0	813	0	C2orf53	2	27360769	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	27360769	215838604	50	29035	325	2									
LTBP1	4052	broad.mit.edu	37	chr2	33568029	33568030	+	Splice_Site	INS	-	-	AT													aggatgggcaagggtgtgtgINSggtgagtttttagatttttt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:33568029_33568030insAT	ENST00000402934.1	+	21	2831_2832	c.2718_2719insAT	c.(2719-2721)gat>ATgat	p.D907fs	LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000404816.2_Splice_Site_p.D1286fs|LTBP1_ENST00000404525.1_Splice_Site_p.D907fs|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000354476.3_Splice_Site_p.D1287fs|LTBP1_ENST00000407925.1_Splice_Site_p.D960fs|LTBP1_ENST00000390003.4_Splice_Site_p.D961fs			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1286	EGF-like 4; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGGTGTGTGGGTGAGTTTTT	0.475													False	0	True	2:33568029	0	AT	33568030	-	AT	33568029	8	5	92	1	0	1	1	0	0	0	1	0	9135	1362	47	0	4008	0	LTBP1	2	33568029	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	6207260	33568029	209631344	51	29036											
LRPPRC	10128	broad.mit.edu	37	chr2	44161416	44161417	+	In_Frame_Ins	INS	-	-	GATTCA													tcaccatttcaccttgttctINStggctcacaaagtccattgc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:44161416_44161417insGATTCA	ENST00000260665.7	-	25	2705_2706	c.2648_2649insTGAATC	c.(2647-2649)caa>caTGAATCa	p.883_883Q>HES		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	883					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CACCTTGTTCTTGGCTCACAAA	0.351													False	0	False	2:44161416	0	GATTCA	44161417	-	GATTCA	44161416	7	5	92	1	0	1	1	0	0	0	0	0	9027	1606	56	0	1591	0	LRPPRC	2	44161416	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	10593387	44161416	199037957	52	29037											
MSH2	4436	broad.mit.edu	37	chr2	47637492	47637493	+	Frame_Shift_Ins	INS	-	-	AG													ggaggagagactgctggagaINScatggggaaactgagacagg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:47637492_47637493insAG	ENST00000406134.1	+	3	688_689	c.626_627insAG	c.(625-630)gacatgfs	p.DM209fs	MSH2_ENST00000233146.2_Frame_Shift_Ins_p.DM209fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.DM143fs			P43246	MSH2_HUMAN	mutS homolog 2	209					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTGCTGGAGACATGGGGAAAC	0.436			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	False	2:47637492	0	AG	47637493	-	AG	47637492	7	5	92	1	0	1	1	0	0	0	0	0	9937	275	10	0	636	0	MSH2	2	47637492	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	3476076	47637492	195561881	53	29038											
HK2	3099	broad.mit.edu	37	chr2	75107650	75107651	+	In_Frame_Ins	INS	-	-	AGGGCG													agactcatgccagtgcccccINSgtcaagatgctgcccaccta					rs142174869		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:75107650_75107651insAGGGCG	ENST00000409174.1	+	10	1630_1631	c.1440_1441insAGGGCG	c.(1441-1443)gtc>AGGGCGgtc	p.480_481insRA	HK2_ENST00000290573.2_In_Frame_Ins_p.508_509insRA			P52789	HXK2_HUMAN	hexokinase 2	508	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.V509I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CCAGTGCCCCCGTCAAGATGCT	0.594													False	0	True	2:75107650	0	AGGGCG	75107651	-	AGGGCG	75107650	7	5	92	1	0	1	1	0	0	0	0	0	7238	639	23	0	1562	0	HK2	2	75107650	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	27470158	75107650	168091723	54	29039											
ELMOD3	84173	broad.mit.edu	37	chr2	85589382	85589383	+	Splice_Site	INS	-	-	CCAAAGATAATAGTTTAAA													ctggctttcagaggaatcccINStgtatgtatcacccacaact							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:85589382_85589383insCCAAAGATAATAGTTTAAA	ENST00000315658.7	+	3	387_388	c.128_129insCCAAAGATAATAGTTTAAA	c.(127-132)cctatc>ccCCAAAGATAATAGTTTAAAtatc	p.I44fs	ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Splice_Site_p.I44fs|ELMOD3_ENST00000428955.2_Splice_Site_p.I44fs|ELMOD3_ENST00000409890.2_Splice_Site_p.I44fs|ELMOD3_ENST00000409344.3_Splice_Site_p.I44fs|ELMOD3_ENST00000409013.3_Splice_Site_p.I44fs	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	44					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGAGGAATCCCTGTATGTATCA	0.485													False	0	True	2:85589382	0	CCAAAGATAATAGTTTAAA	85589383	-	CCAAAGATAATAGTTTAAA	85589382	8	5	92	1	0	1	1	0	0	0	1	0	5102	695	24	0	134	0	ELMOD3	2	85589382	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	10481732	85589382	157609991	55	29040	326	2									
ELMOD3	84173	broad.mit.edu	37	chr2	85589384	85589385	+	Splice_Site	INS	-	-	TCATACTTTTTTTTTTT													ggctttcagaggaatccctgINStatgtatcacccacaacttg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:85589384_85589385insTCATACTTTTTTTTTTT	ENST00000315658.7	+	3	388		c.e3+1		ELMOD3_ENST00000490508.1_Splice_Site|ELMOD3_ENST00000393852.4_Splice_Site|ELMOD3_ENST00000428955.2_Splice_Site|ELMOD3_ENST00000409890.2_Splice_Site|ELMOD3_ENST00000409344.3_Splice_Site|ELMOD3_ENST00000409013.3_Splice_Site	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3						phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGGAATCCCTGTATGTATCACC	0.475													False	0	True	2:85589384	0	TCATACTTTTTTTTTTT	85589385	-	TCATACTTTTTTTTTTT	85589384	8	5	92	1	0	1	1	0	0	0	1	0	5102	1391	48	0	136	0	ELMOD3	2	85589384	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	85589384	157609989	56	29041	326	2									
IL1R1	3554	broad.mit.edu	37	chr2	102792134	102792135	+	In_Frame_Ins	INS	-	-	AAAAATAAGAGA													taatggaacagagtaaaggcINSttattgttgtaaaactactt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:102792134_102792135insAAAAATAAGAGA	ENST00000424272.1	+	11	1573_1574	c.1332_1333insAAAAATAAGAGA	c.(1333-1335)tta>AAAAATAAGAGAtta	p.444_445insKNKR	AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409929.1_Intron|IL1R1_ENST00000409288.1_In_Frame_Ins_p.444_445insKNKR|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_In_Frame_Ins_p.444_445insKNKR|IL1R1_ENST00000410023.1_Intron|IL1R1_ENST00000233946.3_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	0	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AGAGTAAAGGCTTATTGTTGTA	0.381													False	0	False	2:102792134	0	AAAAATAAGAGA	102792135	-	AAAAATAAGAGA	102792134	7	5	92	1	0	1	1	0	0	0	0	0	7708	812	28	0		0	IL1R1	2	102792134	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	17202750	102792134	140407239	57	29042											
SLC9A4	389015	broad.mit.edu	37	chr2	103120054	103120055	+	Frame_Shift_Ins	INS	-	-	C													ttttggatttatttctgcatINSttatcacacgtttcactcag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:103120054_103120055insC	ENST00000295269.4	+	3	1325_1326	c.868_869insC	c.(868-870)tttfs	p.F290fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	290					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TATTTCTGCATTTATCACACGT	0.431													False	0	True	2:103120054	0	C	103120055	-	C	103120054	7	5	92	1	0	1	1	0	0	0	0	0	14796	1493	52	0	878	0	SLC9A4	2	103120054	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	327920	103120054	140079319	58	29043	327	2									
SLC9A4	389015	broad.mit.edu	37	chr2	103120055	103120056	+	Frame_Shift_Ins	INS	-	-	TTGTAAAGGCAATTAACATATTG													tttggatttatttctgcattINStatcacacgtttcactcaga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:103120055_103120056insTTGTAAAGGCAATTAACATATTG	ENST00000295269.4	+	3	1326_1327	c.869_870insTTGTAAAGGCAATTAACATATTG	c.(868-873)tttatcfs	p.I291fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	291					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATTTCTGCATTTATCACACGTT	0.436													False	0	True	2:103120055	0	TTGTAAAGGCAATTAACATATTG	103120056	-	TTGTAAAGGCAATTAACATATTG	103120055	7	5	92	1	0	1	1	0	0	0	0	0	14796	1841	64	0	879	0	SLC9A4	2	103120055	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	103120055	140079318	59	29044	327	2									
CKAP2L	150468	broad.mit.edu	37	chr2	113509947	113509948	+	Frame_Shift_Ins	INS	-	-	AAGTCTT													tttttcaatgctcttccagaINSatgaaatattcatttccttt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:113509947_113509948insAAGTCTT	ENST00000302450.6	-	5	1576_1577	c.1498_1499insAAGACTT	c.(1498-1500)ttcfs	p.-499fs	CKAP2L_ENST00000541405.1_Frame_Shift_Ins_p.-334fs	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like							centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GCTCTTCCAGAATGAAATATTC	0.347													False	0	False	2:113509947	0	AAGTCTT	113509948	-	AAGTCTT	113509947	7	5	92	1	0	1	1	0	0	0	0	0	3466	246	9	0	758	0	CKAP2L	2	113509947	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	10389892	113509947	129689426	60	29045											
PAX8	7849	broad.mit.edu	37	chr2	114004480	114004481	+	Frame_Shift_Ins	INS	-	-	GCTTGAC													caaaggcccctcccagctggINSttcagccctccatggcctaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:114004480_114004481insGCTTGAC	ENST00000429538.3	-	3	235_236	c.41_42insGTCAAGC	c.(40-42)aacfs	p.N14fs	AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000397647.3_Frame_Shift_Ins_p.N14fs|PAX8_ENST00000348715.5_Frame_Shift_Ins_p.N14fs|PAX8_ENST00000263335.7_Frame_Shift_Ins_p.N14fs|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Frame_Shift_Ins_p.N14fs|AC016683.6_ENST00000553869.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	14	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CTCCCAGCTGGTTCAGCCCTCC	0.589			T	PPARG	follicular thyroid		Thyroid dysgenesis						False	0	False	2:114004480	0	GCTTGAC	114004481	-	GCTTGAC	114004480	7	5	92	1	0	1	1	0	0	0	0	0	11553	1252	44	0	1225	0	PAX8	2	114004480	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	494533	114004480	129194893	61	29046											
UBXN4	23190	broad.mit.edu	37	chr2	136540358	136540359	+	Frame_Shift_Ins	INS	-	-	CATTATATCTACTAACACAGTACTA													tgctggaaaaacgtggagacINSgactttaaaaaggaggggaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:136540358_136540359insCATTATATCTACTAACACAGTACTA	ENST00000272638.9	+	13	1739_1740	c.1428_1429insCATTATATCTACTAACACAGTACTA	c.(1429-1431)gacfs	p.D477fs	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	477					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACGTGGAGACGACTTTAAAAA	0.371													False	0	False	2:136540358	0	CATTATATCTACTAACACAGTACTA	136540359	-	CATTATATCTACTAACACAGTACTA	136540358	7	5	92	1	0	1	1	0	0	0	0	0	17000	535	19	0	1478	0	UBXN4	2	136540358	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	22535878	136540358	106659015	62	29047											
RIF1	55183	broad.mit.edu	37	chr2	152321847	152321848	+	In_Frame_Ins	INS	-	-	TTCTTT													agaaccaaaactggtatttcINStgaagaagcagcaatagaag					rs139052966		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:152321847_152321848insTTCTTT	ENST00000243326.4	+	29	6296_6297	c.5813_5814insTTCTTT	c.(5812-5817)tctgaa>tcTTCTTTtgaa	p.1938_1939SE>SSFE	RIF1_ENST00000428287.2_In_Frame_Ins_p.1938_1939SE>SSFE|RIF1_ENST00000430328.2_In_Frame_Ins_p.1938_1939SE>SSFE|RIF1_ENST00000453091.2_In_Frame_Ins_p.1938_1939SE>SSFE|RIF1_ENST00000444746.2_In_Frame_Ins_p.1938_1939SE>SSFE			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1938	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ACTGGTATTTCTGAAGAAGCAG	0.351													False	0	False	2:152321847	0	TTCTTT	152321848	-	TTCTTT	152321847	7	5	92	1	0	1	1	0	0	0	0	0	13438	913	32	0	5927	0	RIF1	2	152321847	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	15781489	152321847	90877526	63	29048	328	2									
RIF1	55183	broad.mit.edu	37	chr2	152321849	152321850	+	In_Frame_Ins	INS	-	-	TCTCCA													aaccaaaactggtatttctgINSaagaagcagcaatagaagaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:152321849_152321850insTCTCCA	ENST00000243326.4	+	29	6298_6299	c.5815_5816insTCTCCA	c.(5815-5817)gaa>gTCTCCAaa	p.1939_1939E>VSK	RIF1_ENST00000428287.2_In_Frame_Ins_p.1939_1939E>VSK|RIF1_ENST00000430328.2_In_Frame_Ins_p.1939_1939E>VSK|RIF1_ENST00000453091.2_In_Frame_Ins_p.1939_1939E>VSK|RIF1_ENST00000444746.2_In_Frame_Ins_p.1939_1939E>VSK			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1939	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGGTATTTCTGAAGAAGCAGCA	0.351													False	0	False	2:152321849	0	TCTCCA	152321850	-	TCTCCA	152321849	7	5	92	1	0	1	1	0	0	0	0	0	13438	1291	45	0	5929	0	RIF1	2	152321849	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	152321849	90877524	64	29049	328	2									
NEB	4703	broad.mit.edu	37	chr2	152512839	152512840	+	Frame_Shift_Ins	INS	-	-	CTAAATGGATAAGA													gtggtagctggtctttgtgtINStctcatagtttttcttgtac							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:152512839_152512840insCTAAATGGATAAGA	ENST00000604864.1	-	47	6321_6322	c.6322_6323insTCTTATCCATTTAG	c.(6322-6324)aacfs	p.N2108fs	NEB_ENST00000409198.1_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.N2108fs			P20929	NEBU_HUMAN	nebulin	2108					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTCTTTGTGTTCTCATAGTTT	0.48													False	0	False	2:152512839	0	CTAAATGGATAAGA	152512840	-	CTAAATGGATAAGA	152512839	7	5	92	1	0	1	1	0	0	0	0	0	10370	1725	60	0	19899	0	NEB	2	152512839	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	190990	152512839	90686534	65	29050											
SCRN3	79634	broad.mit.edu	37	chr2	175264809	175264810	+	Frame_Shift_Ins	INS	-	-	AAAACCAGAAAAGT													agtttgtgatgaagaagcacINStattaggaatggaccttgtc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:175264809_175264810insAAAACCAGAAAAGT	ENST00000272732.6	+	3	401_402	c.319_320insAAAACCAGAAAAGT	c.(319-321)ctafs	p.L107fs	SCRN3_ENST00000409673.3_Frame_Shift_Ins_p.L100fs	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	107					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TGAAGAAGCACTATTAGGAATG	0.376													False	0	False	2:175264809	0	AAAACCAGAAAAGT	175264810	-	AAAACCAGAAAAGT	175264809	7	5	92	1	0	1	1	0	0	0	0	0	14021	564	20	0	325	0	SCRN3	2	175264809	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	22751970	175264809	67934564	66	29051											
GPR155	151556	broad.mit.edu	37	chr2	175346379	175346380	+	In_Frame_Ins	INS	-	-	TAAGTTAATTTTTATTTTTCAAGTGTTTAA													caattaagatactatataggINSaaggaccagtccacattgga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:175346379_175346380insTAAGTTAATTTTTATTTTTCAAGTGTTTAA	ENST00000392552.2	-	2	543_544	c.305_306insTTAAACACTTGAAAAATAAAAATTAACTTA	c.(304-306)ttc>ttTTAAACACTTGAAAAATAAAAATTAACTTAc	p.102_103ins*TLEK*KLTY	GPR155_ENST00000295500.4_In_Frame_Ins_p.102_103ins*TLEK*KLTY|GPR155_ENST00000392551.2_In_Frame_Ins_p.102_103ins*TLEK*KLTY	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	102					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TACTATATAGGAAGGACCAGTC	0.366													False	0	True	2:175346379	0	TAAGTTAATTTTTATTTTTCAAGTGTTTAA	175346380	-	TAAGTTAATTTTTATTTTTCAAGTGTTTAA	175346379	7	5	92	1	0	1	1	0	0	0	0	0	6706	1165	41	0	2366	0	GPR155	2	175346379	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	81570	175346379	67852994	67	29052											
CHRNA1	1134	broad.mit.edu	37	chr2	175618381	175618382	+	Frame_Shift_Ins	INS	-	-	ATCATGT													gtgtcggggcagcaggaataINSggtcacggagtgcttccagc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:175618381_175618382insATCATGT	ENST00000409219.1	-	6	644_645	c.627_628insACATGAT	c.(625-630)acctatfs	p.Y210fs	CHRNA1_ENST00000348749.5_Frame_Shift_Ins_p.Y210fs|CHRNA1_ENST00000409542.1_Frame_Shift_Ins_p.Y128fs|CHRNA1_ENST00000409323.1_Frame_Shift_Ins_p.Y210fs|CHRNA1_ENST00000261007.5_Frame_Shift_Ins_p.Y235fs|AC018890.6_ENST00000442996.1_RNA			P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	235					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CAGCAGGAATAGGTCACGGAGT	0.589													False	0	False	2:175618381	0	ATCATGT	175618382	-	ATCATGT	175618381	7	5	92	1	0	1	1	0	0	0	0	0	3404	420	15	0	761	0	CHRNA1	2	175618381	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	272002	175618381	67580992	68	29053											
TTN	7273	broad.mit.edu	37	chr2	179428453	179428454	+	Frame_Shift_Ins	INS	-	-	A													tgttgagggaggacctggtgINSgcttataaggattacaggcc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:179428453_179428454insA	ENST00000589042.1	-	326	82629_82630	c.82405_82406insT	c.(82405-82407)ccafs	p.P27469fs	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.P25828fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.P18529fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P24901fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P18404fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P18596fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25828							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACCTGGTGGCTTATAAGGA	0.48													False	0	False	2:179428453	0	A	179428454	-	A	179428453	7	5	92	1	0	1	1	0	0	0	0	0	16819	1348	47	0	25721	0	TTN	2	179428453	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	3810072	179428453	63770920	69	29054	329	2									
TTN	7273	broad.mit.edu	37	chr2	179428455	179428456	+	Frame_Shift_Ins	INS	-	-	CATCTGT													ttgagggaggacctggtggcINSttataaggattacaggccgt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:179428455_179428456insCATCTGT	ENST00000589042.1	-	326	82627_82628	c.82403_82404insACAGATG	c.(82402-82404)aagfs	p.-27468fs	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.-25827fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.-18528fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.-24900fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.-18403fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.-18595fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCTGGTGGCTTATAAGGATT	0.48													False	0	False	2:179428455	0	CATCTGT	179428456	-	CATCTGT	179428455	7	5	92	1	0	1	1	0	0	0	0	0	16819	796	28	0	25723	0	TTN	2	179428455	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	179428455	63770918	70	29055	329	2									
HECW2	57520	broad.mit.edu	37	chr2	197138826	197138827	+	Frame_Shift_Ins	INS	-	-	TACTTTTTGCCCT													ggaagaactggtggtcctgcINSatgtcgagaatcttctccta							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:197138826_197138827insTACTTTTTGCCCT	ENST00000409111.1	-	14	3102_3103	c.2088_2089insAGGGCAAAAAGTA	c.(2086-2091)catgcafs	p.A697fs	HECW2_ENST00000260983.2_Frame_Shift_Ins_p.A1053fs			Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1053					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGTGGTCCTGCATGTCGAGAAT	0.47													False	0	False	2:197138826	0	TACTTTTTGCCCT	197138827	-	TACTTTTTGCCCT	197138826	7	5	92	1	0	1	1	0	0	0	0	0	7090	710	25	0	1617	0	HECW2	2	197138826	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	17710371	197138826	46060547	71	29056											
EEF1B2	1933	broad.mit.edu	37	chr2	207026168	207026169	+	Frame_Shift_Ins	INS	-	-	CCTTTTCCAGAAAATACAAAATAACTTG													agtaaagatgatgatgacatINStgacctctttggatctgatg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:207026168_207026169insCCTTTTCCAGAAAATACAAAATAACTTG	ENST00000392222.2	+	3	677_678	c.302_303insCCTTTTCCAGAAAATACAAAATAACTTG	c.(301-306)attgacfs	p.D102fs	EEF1B2_ENST00000236957.5_Frame_Shift_Ins_p.D102fs|EEF1B2_ENST00000392221.1_Frame_Shift_Ins_p.D102fs	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	102						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						GATGATGACATTGACCTCTTTG	0.485													False	0	False	2:207026168	0	CCTTTTCCAGAAAATACAAAATAACTTG	207026169	-	CCTTTTCCAGAAAATACAAAATAACTTG	207026168	7	5	92	1	0	1	1	0	0	0	0	0	4955	1493	52	0	312	0	EEF1B2	2	207026168	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	9887342	207026168	36173205	72	29057											
ZDBF2	57683	broad.mit.edu	37	chr2	207173128	207173129	+	Frame_Shift_Ins	INS	-	-	TTAG													attttgattctcatgaacccINScttcagtccgtaactaataa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:207173128_207173129insTTAG	ENST00000374423.3	+	5	4262_4263	c.3876_3877insTTAG	c.(3877-3879)cttfs	p.-1293fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2								nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTCATGAACCCCTTCAGTCCGT	0.381													False	0	True	2:207173128	0	TTAG	207173129	-	TTAG	207173128	7	5	92	1	0	1	1	0	0	0	0	0	17682	610	22	0	3886	0	ZDBF2	2	207173128	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	146960	207173128	36026245	73	29058											
PRKAG3	53632	broad.mit.edu	37	chr2	219688575	219688576	+	Frame_Shift_Ins	INS	-	-	AGCTATGA													cgcccaagagatgctgggtcINStcgtccactagcaccagcct							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:219688575_219688576insAGCTATGA	ENST00000529249.1	-	13	1694_1695	c.1379_1380insTCATAGCT	c.(1378-1380)gagfs	p.E460fs	PRKAG3_ENST00000545803.1_Frame_Shift_Ins_p.E276fs|PRKAG3_ENST00000439262.2_Frame_Shift_Ins_p.E435fs			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	460	CBS 4.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGCTGGGTCTCGTCCACTAG	0.604													False	0	False	2:219688575	0	AGCTATGA	219688576	-	AGCTATGA	219688575	7	5	92	1	0	1	1	0	0	0	0	0	12578	912	32	0	93	0	PRKAG3	2	219688575	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	12515447	219688575	23510798	74	29059											
COL6A3	1293	broad.mit.edu	37	chr2	238285600	238285601	+	In_Frame_Ins	INS	-	-	ATGGTAGAGAAA													aaccccactctgcttcaggtINStacttgctggcccatccaca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:238285600_238285601insATGGTAGAGAAA	ENST00000295550.4	-	7	3336_3337	c.2884_2885insTTTCTCTACCAT	c.(2884-2886)aac>aTTTCTCTACCATac	p.962_962N>ISLPY	COL6A3_ENST00000472056.1_In_Frame_Ins_p.355_355N>ISLPY|COL6A3_ENST00000346358.4_In_Frame_Ins_p.762_762N>ISLPY|COL6A3_ENST00000347401.3_In_Frame_Ins_p.761_761N>ISLPY|COL6A3_ENST00000392003.2_In_Frame_Ins_p.555_555N>ISLPY|COL6A3_ENST00000353578.4_In_Frame_Ins_p.756_756N>ISLPY|COL6A3_ENST00000392004.3_In_Frame_Ins_p.756_756N>ISLPY|COL6A3_ENST00000409809.1_In_Frame_Ins_p.756_756N>ISLPY	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	962	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCTTCAGGTTACTTGCTGGC	0.559													False	0	False	2:238285600	0	ATGGTAGAGAAA	238285601	-	ATGGTAGAGAAA	238285600	7	5	92	1	0	1	1	0	0	0	0	0	3724	1725	60	0	6847	0	COL6A3	2	238285600	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	18597025	238285600	4913773	75	29060											
SLC4A7	9497	broad.mit.edu	37	chr3	27460104	27460105	+	Frame_Shift_Ins	INS	-	-	TTTAATAAAATTTTTTTTG													atttctgtcttttgctttatINSaagctacatcatggaaaatc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:27460104_27460105insTTTAATAAAATTTTTTTTG	ENST00000295736.5	-	11	1574_1575	c.1504_1505insCAAAAAAAATTTTATTAAA	c.(1504-1506)tatfs	p.Y502fs	SLC4A7_ENST00000446700.1_Frame_Shift_Ins_p.Y494fs|SLC4A7_ENST00000437179.1_Frame_Shift_Ins_p.Y383fs|SLC4A7_ENST00000445684.1_Frame_Shift_Ins_p.Y498fs|SLC4A7_ENST00000440156.1_Frame_Shift_Ins_p.Y498fs|SLC4A7_ENST00000425128.2_Frame_Shift_Ins_p.Y494fs|SLC4A7_ENST00000454389.1_Frame_Shift_Ins_p.Y511fs|SLC4A7_ENST00000428386.1_Frame_Shift_Ins_p.Y378fs|SLC4A7_ENST00000388777.4_Frame_Shift_Ins_p.Y52fs|SLC4A7_ENST00000435667.2_Frame_Shift_Ins_p.Y387fs|SLC4A7_ENST00000455077.1_Frame_Shift_Ins_p.Y383fs	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	502						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TTTTGCTTTATAAGCTACATCA	0.312													False	0	False	3:27460104	0	TTTAATAAAATTTTTTTTG	27460105	-	TTTAATAAAATTTTTTTTG	27460104	7	5	92	1	0	1	1	0	0	0	0	0	14738	1406	49	0	2199	0	SLC4A7	3	27460104	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08		27460104	170562326	76	29061											
SACM1L	22908	broad.mit.edu	37	chr3	45744994	45744995	+	Translation_Start_Site	INS	-	-	AATGAAATGAAGACTTCTAAAAAACTACTTATTATGACAATTACAGAG													agcagatgacgtacttaccaINSttgaccgtgtgtccacagag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:45744994_45744995insAATGAAATGAAGACTTCTAAAAAACTACTTATTATGACAATTACAGAG	ENST00000418611.1	+	0	362_363				SACM1L_ENST00000541314.1_In_Frame_Ins_p.14_15insNEMKTSKKLLIMTITE|SACM1L_ENST00000389061.5_In_Frame_Ins_p.33_33I>K*NEDF*KTTYYDNYRV|SACM1L_ENST00000464524.1_3'UTR			Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)							Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CGTACTTACCATTGACCGTGTG	0.337													False	0	False	3:45744994	0	AATGAAATGAAGACTTCTAAAAAACTACTTATTATGACAATTACAGAG	45744995	-	AATGAAATGAAGACTTCTAAAAAACTACTTATTATGACAATTACAGAG	45744994	6	5	92	1	0	1	1	0	0	0	0	0	13882	217	8	0		0	SACM1L	3	45744994	Translation_Start_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	18284890	45744994	152277436	77	29062											
RBM15B	29890	broad.mit.edu	37	chr3	51430706	51430707	+	Frame_Shift_Ins	INS	-	-	TTTTACT													cagtgggcagcagtcagagcINSggggctccgaccgcacccct							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:51430706_51430707insTTTTACT	ENST00000323686.4	+	1	1976_1977	c.1876_1877insTTTTACT	c.(1876-1878)cggfs	p.R626fs		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	626					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCAGTCAGAGCGGGGCTCCGAC	0.614													False	0	True	3:51430706	0	TTTTACT	51430707	-	TTTTACT	51430706	7	5	92	1	0	1	1	0	0	0	0	0	13196	759	27	0	1878	0	RBM15B	3	51430706	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	5685712	51430706	146591724	78	29063											
TLR9	54106	broad.mit.edu	37	chr3	52256448	52256449	+	In_Frame_Ins	INS	-	-	GAAGTC													agtccagccagatcaaaccgINSctcaggccttggaagaagtg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:52256448_52256449insGAAGTC	ENST00000494383.1	-	5	2342_2343	c.2343_2344insGACTTC	c.(2341-2346)gagcgg>gagGACTTCcgg	p.781_782ER>EDFR	TLR9_ENST00000360658.2_In_Frame_Ins_p.627_628insRT|TLR9_ENST00000597542.1_In_Frame_Ins_p.651_652insRT			Q9NR96	TLR9_HUMAN	toll-like receptor 9	680					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AGATCAAACCGCTCAGGCCTTG	0.624													False	0	False	3:52256448	0	GAAGTC	52256449	-	GAAGTC	52256448	7	5	92	1	0	1	1	0	0	0	0	0	16040	1078	38	0	1218	0	TLR9	3	52256448	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	825742	52256448	145765982	79	29064											
KBTBD8	84541	broad.mit.edu	37	chr3	67054436	67054437	+	Frame_Shift_Ins	INS	-	-	T													gtacaggccaagcagcagtgINSaggtctccatcgaccataag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:67054436_67054437insT	ENST00000417314.2	+	3	1094_1095	c.1045_1046insT	c.(1045-1047)gagfs	p.E349fs	KBTBD8_ENST00000295568.4_Frame_Shift_Ins_p.E323fs|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	349										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAGCAGCAGTGAGGTCTCCATC	0.441													False	0	False	3:67054436	0	T	67054437	-	T	67054436	7	5	92	1	0	1	1	0	0	0	0	0	8049	1291	45	0	1055	0	KBTBD8	3	67054436	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	14797988	67054436	130967994	80	29065	330	2									
KBTBD8	84541	broad.mit.edu	37	chr3	67054437	67054438	+	Frame_Shift_Ins	INS	-	-	CAGCCATT													tacaggccaagcagcagtgaINSggtctccatcgaccataagg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:67054437_67054438insCAGCCATT	ENST00000417314.2	+	3	1095_1096	c.1046_1047insCAGCCATT	c.(1045-1050)gaggtcfs	p.EV349fs	KBTBD8_ENST00000295568.4_Frame_Shift_Ins_p.EV323fs|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	349										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGCAGCAGTGAGGTCTCCATCG	0.441													False	0	False	3:67054437	0	CAGCCATT	67054438	-	CAGCCATT	67054437	7	5	92	1	0	1	1	0	0	0	0	0	8049	304	11	0	1056	0	KBTBD8	3	67054437	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	67054437	130967993	81	29066	330	2									
EPHA6	285220	broad.mit.edu	37	chr3	97251389	97251389	+	Splice_Site	DEL	T	T	-													gaaggggttgtcaccaaaagTaagttactgagtttcttcat							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:97251389delT	ENST00000514100.1	+	8	804		c.e8+2		EPHA6_ENST00000442602.2_Splice_Site|EPHA6_ENST00000502694.1_Splice_Site|EPHA6_ENST00000389672.5_Splice_Site	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6							integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCACCAAAAGTAAGTTACTGA	0.358													False	1	True	3:97251389	0	-	97251389	T	-	97251389	8	5	92	1	0	1	0	1	0	0	1	0	5203	1652	57	0	2498	0	EPHA6	3	97251389	Splice_Site	DEL	T	TCGA-IB-7887-01A-11D-2154-08	30196952	97251389	100771041	82	29067											
DZIP3	9666	broad.mit.edu	37	chr3	108351911	108351912	+	Frame_Shift_Ins	INS	-	-	CAATTAAGACTACCCAT													tgacattttgaagaacaccaINSgttataaggtactgtaattg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:108351911_108351912insCAATTAAGACTACCCAT	ENST00000361582.3	+	9	1038_1039	c.808_809insCAATTAAGACTACCCAT	c.(808-810)agtfs	p.S270fs	DZIP3_ENST00000463306.1_Frame_Shift_Ins_p.S270fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	270					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GAAGAACACCAGTTATAAGGTA	0.233													False	0	False	3:108351911	0	CAATTAAGACTACCCAT	108351912	-	CAATTAAGACTACCCAT	108351911	7	5	92	1	0	1	1	0	0	0	0	0	4895	188	7	0	838	0	DZIP3	3	108351911	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	11100522	108351911	89670519	83	29068											
IGSF10	285313	broad.mit.edu	37	chr3	151165331	151165332	+	Frame_Shift_Ins	INS	-	-	AATATAAACCCAACCATGT													ccttgctggaaggttcaaagINSctttagtggccgggaccata							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:151165331_151165332insAATATAAACCCAACCATGT	ENST00000282466.3	-	4	2436_2437	c.2437_2438insACATGGTTGGGTTTATATT	c.(2437-2439)gctfs	p.A813fs		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	813					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGTTCAAAGCTTTAGTGGCC	0.47													False	0	True	3:151165331	0	AATATAAACCCAACCATGT	151165332	-	AATATAAACCCAACCATGT	151165331	7	5	92	1	0	1	1	0	0	0	0	0	7647	971	34	0	5493	0	IGSF10	3	151165331	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	42813420	151165331	46857099	84	29069											
SEC62	7095	broad.mit.edu	37	chr3	169700583	169700584	+	Frame_Shift_Ins	INS	-	-	GGCATAAATTAGCAACACAAGAG													gaaagaaaaagataaaggaaINSaagctgaaagtggaaaagaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:169700583_169700584insGGCATAAATTAGCAACACAAGAG	ENST00000337002.4	+	4	398_399	c.340_341insGGCATAAATTAGCAACACAAGAG	c.(340-342)aaafs	p.K114fs	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Frame_Shift_Ins_p.K114fs	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	114					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						agataaaggaaaagctgaaagt	0.282													False	0	True	3:169700583	0	GGCATAAATTAGCAACACAAGAG	169700584	-	GGCATAAATTAGCAACACAAGAG	169700583	7	5	92	1	0	1	1	0	0	0	0	0	14085	15	1	0	354	0	SEC62	3	169700583	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	18535252	169700583	28321847	85	29070											
ATP13A5	344905	broad.mit.edu	37	chr3	192992915	192992916	+	Frame_Shift_Ins	INS	-	-	TATATTTTCAATGAATTAAA													tctgttcatggctttcatagINScctccgttgatgtagaatcc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:192992915_192992916insTATATTTTCAATGAATTAAA	ENST00000342358.4	-	30	3689_3690	c.3572_3573insTTTAATTCATTGAAAATATA	c.(3571-3573)ggcfs	p.-1191fs	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGCTTTCATAGCCTCCGTTGAT	0.45													False	0	False	3:192992915	0	TATATTTTCAATGAATTAAA	192992916	-	TATATTTTCAATGAATTAAA	192992915	7	5	92	1	0	1	1	0	0	0	0	0	1131	958	34	0	85	0	ATP13A5	3	192992915	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	23292332	192992915	5029515	86	29071											
LRCH3	84859	broad.mit.edu	37	chr3	197553808	197553808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaataaaattaccacaatcCctgtttgttatcggaacctc	5	11	0	0			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:197553808C>T	ENST00000438796.2	+	5	744	c.700C>T	c.(700-702)Cct>Tct	p.P234S	LRCH3_ENST00000425562.2_Missense_Mutation_p.P234S|LRCH3_ENST00000441090.2_Missense_Mutation_p.P108S|LRCH3_ENST00000334859.4_Missense_Mutation_p.P234S|LRCH3_ENST00000414675.2_Missense_Mutation_p.P234S			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	234						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TACCACAATCCCTGTTTGTTA	0.423													False	0	True	3:197553808	0	T	197553808	C	T	197553808	3	4	92	1	0	0	0	0	1	0	0	0	8996	623	22	2	718	2	LRCH3	3	197553808	Missense_Mutation	SNP	C	TCGA-IB-7887-01A-11D-2154-08	4560893	197553808	468622	87	29072											
LMLN	89782	broad.mit.edu	37	chr3	197701344	197701345	+	Splice_Site	INS	-	-	ACATAC													ctatgataaaagtgttgaagINSagtaagtacaccattgtatt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:197701344_197701345insACATAC	ENST00000330198.4	+	2	338_339	c.316_317insACATAC	c.(316-318)gag>gACATACag	p.106_106E>DIQ	LMLN_ENST00000420910.2_Splice_Site_p.106_106E>DIQ|LMLN_ENST00000332636.5_Splice_Site_p.54_54E>DIQ|LMLN_ENST00000482695.1_Splice_Site_p.54_54E>DIQ	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	106			E -> D (in dbSNP:rs7373165).		cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		AAGTGTTGAAGAGTAAGTACAC	0.297													False	0	True	3:197701344	0	ACATAC	197701345	-	ACATAC	197701344	8	5	92	1	0	1	1	0	0	0	1	0	8900	956	33	0	322	0	LMLN	3	197701344	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	147536	197701344	321086	88	29073	331	2									
LMLN	89782	broad.mit.edu	37	chr3	197701346	197701347	+	Splice_Site	INS	-	-	ATTAACCCACTGCAATCCAAACTTAAAATTAATGAAC													atgataaaagtgttgaagagINStaagtacaccattgtattgt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:197701346_197701347insATTAACCCACTGCAATCCAAACTTAAAATTAATGAAC	ENST00000330198.4	+	2	339		c.e2+1		LMLN_ENST00000420910.2_Splice_Site|LMLN_ENST00000332636.5_Splice_Site|LMLN_ENST00000482695.1_Splice_Site	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)						cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GTGTTGAAGAGTAAGTACACCA	0.292													False	0	True	3:197701346	0	ATTAACCCACTGCAATCCAAACTTAAAATTAATGAAC	197701347	-	ATTAACCCACTGCAATCCAAACTTAAAATTAATGAAC	197701346	8	5	92	1	0	1	1	0	0	0	1	0	8900	1043	36	0	324	0	LMLN	3	197701346	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	197701346	321084	89	29074	331	2									
RNF212	285498	broad.mit.edu	37	chr4	1075255	1075256	+	Splice_Site	INS	-	-	CTAATCCATACAGTTGA													caggcatccgtgtggttttgINSctggaagagtgatgacgaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:1075255_1075256insCTAATCCATACAGTTGA	ENST00000382968.5	-	7	513	c.416_416insTCAACTGTATGGATTAG	c.(415-417)aca>aTCAACTGTATGGATTAGca	p.T139fs	RNF212_ENST00000433731.2_Splice_Site_p.T139fs	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	ring finger protein 212	139							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		GTGTGGTTTTGCTGGAAGAGTG	0.495													False	0	False	4:1075255	0	CTAATCCATACAGTTGA	1075256	-	CTAATCCATACAGTTGA	1075255	8	5	92	1	0	1	1	0	0	0	1	0	13555	1333	46	0	493	0	RNF212	4	1075255	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08		1075255	190079021	90	29075											
HTT	3064	broad.mit.edu	37	chr4	3188389	3188390	+	Frame_Shift_Ins	INS	-	-	CTCATTTAAAAGCATT													ttgagattttggccccttccINStccctccgtccggtagacat							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:3188389_3188390insCTCATTTAAAAGCATT	ENST00000355072.5	+	38	5077_5078	c.4932_4933insCTCATTTAAAAGCATT	c.(4933-4935)tccfs	p.S1645fs		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1645					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGGCCCCTTCCTCCCTCCGTCC	0.46													False	0	True	4:3188389	0	CTCATTTAAAAGCATT	3188390	-	CTCATTTAAAAGCATT	3188389	7	5	92	1	0	1	1	0	0	0	0	0	7507	668	24	0	5082	0	HTT	4	3188389	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2113134	3188389	187965887	91	29076											
SHROOM3	57619	broad.mit.edu	37	chr4	77680837	77680838	+	Frame_Shift_Ins	INS	-	-	GTCC													agaggaacaggcagatgtcaINSatgaaaagaaggtaaataaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:77680837_77680838insGTCC	ENST00000296043.6	+	9	6291_6292	c.5338_5339insGTCC	c.(5338-5340)aatfs	p.N1780fs	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1780	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCAGATGTCAATGAAAAGAAG	0.465													False	0	False	4:77680837	0	GTCC	77680838	-	GTCC	77680837	7	5	92	1	0	1	1	0	0	0	0	0	14376	130	5	0	5372	0	SHROOM3	4	77680837	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	74492448	77680837	113473439	92	29077	332	2									
SHROOM3	57619	broad.mit.edu	37	chr4	77680839	77680840	+	In_Frame_Ins	INS	-	-	TCA													aggaacaggcagatgtcaatINSgaaaagaaggtaaataaaga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:77680839_77680840insTCA	ENST00000296043.6	+	9	6293_6294	c.5340_5341insTCA	c.(5341-5343)gaa>TCAgaa	p.1780_1781insS	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1780	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGATGTCAATGAAAAGAAGGT	0.46													False	0	True	4:77680839	0	TCA	77680840	-	TCA	77680839	7	5	92	1	0	1	1	0	0	0	0	0	14376	1461	51	0	5374	0	SHROOM3	4	77680839	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	77680839	113473437	93	29078	332	2									
THAP9	79725	broad.mit.edu	37	chr4	83838309	83838310	+	Frame_Shift_Ins	INS	-	-	CTGGACT													aaacttgatgctgatgaaacINSgccacttgcttcagaaactg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:83838309_83838310insCTGGACT	ENST00000302236.5	+	5	995_996	c.944_945insCTGGACT	c.(943-948)acgccafs	p.P316fs	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	316							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCTGATGAAACGCCACTTGCTT	0.416													False	0	False	4:83838309	0	CTGGACT	83838310	-	CTGGACT	83838309	7	5	92	1	0	1	1	0	0	0	0	0	15933	536	19	0	962	0	THAP9	4	83838309	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	6157470	83838309	107315967	94	29079											
CENPE	1062	broad.mit.edu	37	chr4	104057403	104057404	+	Frame_Shift_Ins	INS	-	-	ATTTAGTATTC													agggaagtgagaggtttgctINSttaactctcattgaaagctc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:104057403_104057404insATTTAGTATTC	ENST00000380026.3	-	38	6141_6142	c.6053_6054insGAATACTAAAT	c.(6052-6054)aaafs	p.K2018fs	CENPE_ENST00000265148.3_Frame_Shift_Ins_p.K2139fs			Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2070					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGAGGTTTGCTTTAACTCTCAT	0.361													False	0	True	4:104057403	0	ATTTAGTATTC	104057404	-	ATTTAGTATTC	104057403	7	5	92	1	0	1	1	0	0	0	0	0	3253	1606	56	0	1728	0	CENPE	4	104057403	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	20219094	104057403	87096873	95	29080											
CCDC109B	55013	broad.mit.edu	37	chr4	110606512	110606513	+	Frame_Shift_Ins	INS	-	-	GCAGATGA													atacaacaagttaaaagaagINSaccttgctaaggtatactac							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:110606512_110606513insGCAGATGA	ENST00000394650.4	+	7	1055_1056	c.922_923insGCAGATGA	c.(922-924)gacfs	p.D308fs		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	308						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		GTTAAAAGAAGACCTTGCTAAG	0.381													False	0	False	4:110606512	0	GCAGATGA	110606513	-	GCAGATGA	110606512	7	5	92	1	0	1	1	0	0	0	0	0	2765	942	33	0	948	0	CCDC109B	4	110606512	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	6549109	110606512	80547764	96	29081											
LRIT3	345193	broad.mit.edu	37	chr4	110791066	110791067	+	In_Frame_Ins	INS	-	-	AAGAAA													gcgcatcatcatatctttggINStcctcttccttctcccccac							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:110791066_110791067insAAGAAA	ENST00000327908.3	+	4	1376_1377	c.612_613insAAGAAA	c.(613-615)tcc>AAGAAAtcc	p.204_205insKK	LRIT3_ENST00000409621.2_In_Frame_Ins_p.204_205insKK|LRIT3_ENST00000594814.1_In_Frame_Ins_p.387_388insKK|LRIT3_ENST00000379920.3_In_Frame_Ins_p.342_343insKK			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	342	LRRCT.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CATATCTTTGGtcctcttcctt	0.47													False	0	False	4:110791066	0	AAGAAA	110791067	-	AAGAAA	110791066	7	5	92	1	0	1	1	0	0	0	0	0	9011	1270	44	0	1036	0	LRIT3	4	110791066	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	184554	110791066	80363210	97	29082											
BBS12	166379	broad.mit.edu	37	chr4	123663407	123663408	+	In_Frame_Ins	INS	-	-	CTGTTG													cagtaatgtcagaaggcttaINSaacttttgtagtgaagaggt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:123663407_123663408insCTGTTG	ENST00000314218.3	+	2	553_554	c.360_361insCTGTTG	c.(361-363)aac>CTGTTGaac	p.120_121insLL	BBS12_ENST00000542236.1_In_Frame_Ins_p.120_121insLL	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	120					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAGAAGGCTTAAACTTTTGTAG	0.366									Bardet-Biedl syndrome				False	0	True	4:123663407	0	CTGTTG	123663408	-	CTGTTG	123663407	7	5	92	1	0	1	1	0	0	0	0	0	1341	359	13	0	362	0	BBS12	4	123663407	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	12872341	123663407	67490869	98	29083											
FBXW7	0	broad.mit.edu	37	chr4	153268210	153268211	+	In_Frame_Ins	INS	-	-	TTGAAATGCCTCACTTAATTGCTGCAA													ggtgttgctgaacatggtacINSaagcccagtggtactacaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:153268210_153268211insTTGAAATGCCTCACTTAATTGCTGCAA	ENST00000281708.4	-	4	1826_1827	c.597_598insTTGCAGCAATTAAGTGAGGCATTTCAA	c.(595-600)cttgta>cttTTGCAGCAATTAAGTGAGGCATTTCAAgta	p.199_200LV>LLQQLSEAFQV	FBXW7_ENST00000603548.1_In_Frame_Ins_p.199_200LV>LLQQLSEAFQV|FBXW7_ENST00000296555.5_In_Frame_Ins_p.81_82LV>LLQQLSEAFQV|FBXW7_ENST00000603841.1_In_Frame_Ins_p.199_200LV>LLQQLSEAFQV|FBXW7_ENST00000393956.3_In_Frame_Ins_p.23_24LV>LLQQLSEAFQV|FBXW7_ENST00000263981.5_In_Frame_Ins_p.119_120LV>LLQQLSEAFQV	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	199					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAACATGGTACAAGCCCAGTGG	0.401			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								False	0	False	4:153268210	0	TTGAAATGCCTCACTTAATTGCTGCAA	153268211	-	TTGAAATGCCTCACTTAATTGCTGCAA	153268210	7	5	92	1	0	1	1	0	0	0	0	0	5809	478	17	0	1561	0	FBXW7	4	153268210	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	29604803	153268210	37886066	99	29084											
KLHL2	11275	broad.mit.edu	37	chr4	166235300	166235301	+	Frame_Shift_Ins	INS	-	-	AGAGATTTATATCATATTAGGTTTATTTAAATGAC													acaggttgcagatatgaacaINStgtgcagaagaaatgcaggt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:166235300_166235301insAGAGATTTATATCATATTAGGTTTATTTAAATGAC	ENST00000226725.6	+	13	1850_1851	c.1591_1592insAGAGATTTATATCATATTAGGTTTATTTAAATGAC	c.(1591-1593)atgfs	p.M531fs	KLHL2_ENST00000506761.1_Frame_Shift_Ins_p.M365fs|KLHL2_ENST00000538127.1_Frame_Shift_Ins_p.M443fs|KLHL2_ENST00000421009.2_Frame_Shift_Ins_p.M434fs|KLHL2_ENST00000514860.1_Frame_Shift_Ins_p.M535fs|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	531					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGATATGAACATGTGCAGAAGA	0.356													False	0	False	4:166235300	0	AGAGATTTATATCATATTAGGTTTATTTAAATGAC	166235301	-	AGAGATTTATATCATATTAGGTTTATTTAAATGAC	166235300	7	5	92	1	0	1	1	0	0	0	0	0	8424	217	8	0	1683	0	KLHL2	4	166235300	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	12967090	166235300	24918976	100	29085											
AADAT	51166	broad.mit.edu	37	chr4	171008362	171008363	+	In_Frame_Ins	INS	-	-	GGA													ggaggattatgcaattttatINSttgtaactgttttagccagg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:171008362_171008363insGGA	ENST00000337664.4	-	3	549_550	c.273_274insTCC	c.(271-276)caaata>caaTCCata	p.91_92QI>QSI	AADAT_ENST00000509167.1_In_Frame_Ins_p.95_96QI>QSI|AADAT_ENST00000353187.2_In_Frame_Ins_p.91_92QI>QSI|AADAT_ENST00000515480.1_In_Frame_Ins_p.91_92QI>QSI	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	91					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGCAATTTTATTTGTAACTGTT	0.361													False	0	True	4:171008362	0	GGA	171008363	-	GGA	171008362	7	5	92	1	0	1	1	0	0	0	0	0	14	1493	52	0	1047	0	AADAT	4	171008362	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	4773062	171008362	20145914	101	29086	333	2									
AADAT	51166	broad.mit.edu	37	chr4	171008365	171008367	+	In_Frame_Del	DEL	GTA	GTA	-													aggattatgcaattttatttGtaactgttttagccaggaca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GTA	GTA	-	-	GTA	GTA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:171008365_171008367delGTA	ENST00000337664.4	-	3	545_547	c.269_271delTAC	c.(268-273)ttacaa>taa	p.90_91LQ>*	AADAT_ENST00000509167.1_In_Frame_Del_p.94_95LQ>*|AADAT_ENST00000353187.2_In_Frame_Del_p.90_91LQ>*|AADAT_ENST00000515480.1_In_Frame_Del_p.90_91LQ>*	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	90					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AATTTTATTTGTAACTGTTTTAG	0.355													False	1	False	4:171008365	0	-	171008367	GTA	-	171008365	7	5	92	1	0	1	0	1	0	0	0	0	14	1386	48	0	1050	0	AADAT	4	171008365	In_Frame_Del	DEL	GTA	TCGA-IB-7887-01A-11D-2154-08	3	171008365	20145911	102	29087	333	2									
CASP3	836	broad.mit.edu	37	chr4	185550531	185550532	+	In_Frame_Ins	INS	-	-	AAGTGAGAAGATGGTATATTTGGT													aggactcaaattctgttgccINSacctttcggttaacccgggt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:185550531_185550532insAAGTGAGAAGATGGTATATTTGGT	ENST00000308394.4	-	8	990_991	c.728_729insACCAAATATACCATCTTCTCACTT	c.(727-729)gtg>gtACCAAATATACCATCTTCTCACTTg	p.243_244insPNIPSSHL	CASP3_ENST00000523916.1_In_Frame_Ins_p.243_244insPNIPSSHL|CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	243					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	ATTCTGTTGCCACCTTTCGGTT	0.416													False	0	False	4:185550531	0	AAGTGAGAAGATGGTATATTTGGT	185550532	-	AAGTGAGAAGATGGTATATTTGGT	185550531	7	5	92	1	0	1	1	0	0	0	0	0	2692	581	21	0	108	0	CASP3	4	185550531	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	14542166	185550531	5603745	103	29088	334	2									
CASP3	836	broad.mit.edu	37	chr4	185550533	185550534	+	In_Frame_Ins	INS	-	-	TGT													gactcaaattctgttgccacINSctttcggttaacccgggtaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:185550533_185550534insTGT	ENST00000308394.4	-	8	988_989	c.726_727insACA	c.(724-729)aaggtg>aagACAgtg	p.242_243KV>KTV	CASP3_ENST00000523916.1_In_Frame_Ins_p.242_243KV>KTV|CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	242					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	TCTGTTGCCACCTTTCGGTTAA	0.416													False	0	True	4:185550533	0	TGT	185550534	-	TGT	185550533	7	5	92	1	0	1	1	0	0	0	0	0	2692	507	18	0	110	0	CASP3	4	185550533	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	185550533	5603743	104	29089	334	2									
TRIO	7204	broad.mit.edu	37	chr5	14399169	14399170	+	Frame_Shift_Ins	INS	-	-	AAAAATAAAAACTGATGCA													agcaagtacctttataaaagINScaaattgtttgtaagtatag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:14399169_14399170insAAAAATAAAAACTGATGCA	ENST00000344204.4	+	30	4628_4629	c.4604_4605insAAAAATAAAAACTGATGCA	c.(4603-4608)agcaaafs	p.SK1535fs	TRIO_ENST00000537187.1_Frame_Shift_Ins_p.SK1535fs|TRIO_ENST00000509967.2_Frame_Shift_Ins_p.SK1486fs	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1535	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTTATAAAAGCAAATTGTTTG	0.356													False	0	True	5:14399169	0	AAAAATAAAAACTGATGCA	14399170	-	AAAAATAAAAACTGATGCA	14399169	7	5	92	1	0	1	1	0	0	0	0	0	16635	971	34	0	4722	0	TRIO	5	14399169	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08		14399169	166516091	105	29090											
AP3B1	8546	broad.mit.edu	37	chr5	77423982	77423983	+	In_Frame_Ins	INS	-	-	AGG													ccaagctggaaatgatctctINSatctattaaaaatagggaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:77423982_77423983insAGG	ENST00000519295.1	-	17	1963_1964	c.1692_1693insCCT	c.(1690-1695)gataga>gatCCTaga	p.564_565DR>DPR	AP3B1_ENST00000255194.6_In_Frame_Ins_p.613_614DR>DPR	NM_003664.3	NP_003655.3	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	613					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AAATGATCTCTATCTATTAAAA	0.371									Hermansky-Pudlak syndrome				False	0	True	5:77423982	0	AGG	77423983	-	AGG	77423982	7	5	92	1	0	1	1	0	0	0	0	0	746	1530	53	0	1488	0	AP3B1	5	77423982	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	63024813	77423982	103491278	106	29091	335	2									
AP3B1	8546	broad.mit.edu	37	chr5	77423984	77423985	+	Splice_Site	INS	-	-	AG													aagctggaaatgatctctatINSctattaaaaatagggaaaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:77423984_77423985insAG	ENST00000519295.1	-	17	1962	c.1691_1691insCT	c.(1690-1692)gat>gCTat	p.D564fs	AP3B1_ENST00000255194.6_Splice_Site_p.D613fs	NM_003664.3	NP_003655.3	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	613					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGATCTCTATCTATTAAAAAT	0.366									Hermansky-Pudlak syndrome				False	0	True	5:77423984	0	AG	77423985	-	AG	77423984	8	5	92	1	0	1	1	0	0	0	1	0	746	1449	50	0	1490	0	AP3B1	5	77423984	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	77423984	103491276	107	29092	335	2									
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	92	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-IB-7887-01A-11D-2154-08	1186460	78610444	102304816	108	29093											
DMXL1	1657	broad.mit.edu	37	chr5	118507561	118507562	+	Frame_Shift_Ins	INS	-	-	TAAAAAATAAAAGCATA													acagccaatgccaaaacagtINSagttgccaatccattattgc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:118507561_118507562insTAAAAAATAAAAGCATA	ENST00000311085.8	+	25	6658_6659	c.6578_6579insTAAAAAATAAAAGCATA	c.(6577-6582)gtagttfs	p.V2194fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.V2194fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2194										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCCAAAACAGTAGTTGCCAATC	0.406													False	0	False	5:118507561	0	TAAAAAATAAAAGCATA	118507562	-	TAAAAAATAAAAGCATA	118507561	7	5	92	1	0	1	1	0	0	0	0	0	4624	1638	57	0	6676	0	DMXL1	5	118507561	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	39897117	118507561	62407699	109	29094											
SRFBP1	153443	broad.mit.edu	37	chr5	121356395	121356396	+	Frame_Shift_Ins	INS	-	-	CTTTCTTCTGTGCTATCATCAAAATATTCCT													aaagaagatacaggtgaaacINStcatggggatacaagaaatg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:121356395_121356396insCTTTCTTCTGTGCTATCATCAAAATATTCCT	ENST00000339397.4	+	6	1037_1038	c.965_966insCTTTCTTCTGTGCTATCATCAAAATATTCCT	c.(964-969)actcatfs	p.H323fs	SRFBP1_ENST00000504881.1_3'UTR	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		ACAGGTGAAACTCATGGGGATA	0.356													False	0	False	5:121356395	0	CTTTCTTCTGTGCTATCATCAAAATATTCCT	121356396	-	CTTTCTTCTGTGCTATCATCAAAATATTCCT	121356395	7	5	92	1	0	1	1	0	0	0	0	0	15226	565	20	0	987	0	SRFBP1	5	121356395	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2848834	121356395	59558865	110	29095											
NRG2	9542	broad.mit.edu	37	chr5	139267073	139267074	+	In_Frame_Ins	INS	-	-	ACTCCC													tgtcccgtctggctcttcatINScttcttcaacttgggccggg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:139267073_139267074insACTCCC	ENST00000361474.1	-	2	947_948	c.723_724insGGGAGT	c.(721-726)aagatg>aagGGGAGTatg	p.241_242KM>KGSM	NRG2_ENST00000289409.4_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000541337.1_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000358522.3_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000394770.1_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000545385.1_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000289422.7_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000340391.3_In_Frame_Ins_p.38_39KM>KGSM	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	241	Ig-like C2-type.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTCTTCATCTTCTTCAACT	0.579													False	0	False	5:139267073	0	ACTCCC	139267074	-	ACTCCC	139267073	7	5	92	1	0	1	1	0	0	0	0	0	10716	1435	50	0	1955	0	NRG2	5	139267073	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	17910678	139267073	41648187	111	29096											
PCDHA1	0	broad.mit.edu	37	chr5	140167392	140167393	+	In_Frame_Ins	INS	-	-	CAC													ggcgagcgcgcgctgtcgaaINSctacgtgtcagtgcacgcgg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:140167392_140167393insCAC	ENST00000504120.2	+	1	1517_1518	c.1517_1518insCAC	c.(1516-1521)aactac>aaCACctac	p.506_507NY>NTY	PCDHA1_ENST00000378133.3_In_Frame_Ins_p.506_507NY>NTY|PCDHA1_ENST00000394633.3_In_Frame_Ins_p.506_507NY>NTY	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTGTCGAACTACGTGTCAG	0.673													False	0	False	5:140167392	0	CAC	140167393	-	CAC	140167392	7	5	92	1	0	1	1	0	0	0	0	0	11587	43	2	0	1519	0	PCDHA1	5	140167392	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	900319	140167392	40747868	112	29097											
SLC17A1	6568	broad.mit.edu	37	chr6	25826860	25826861	+	Splice_Site	INS	-	-	T													gaaaggaacagaaacctggaINSactacaaagtaaaacagaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:25826860_25826861insT	ENST00000244527.4	-	3	150_151	c.35_36insA	c.(34-36)gtt>gtAt	p.V12fs	SLC17A1_ENST00000476801.1_Splice_Site_p.V12fs|SLC17A1_ENST00000427328.1_Splice_Site_p.V12fs|SLC17A1_ENST00000468082.1_Splice_Site_p.V12fs	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	12					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGAAACCTGGAACTACAAAGTA	0.401													False	0	False	6:25826860	0	T	25826861	-	T	25826860	8	5	92	1	0	1	1	0	0	0	1	0	14497	260	9	0	1407	0	SLC17A1	6	25826860	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08		25826860	145288207	113	29098											
HMGN4	10473	broad.mit.edu	37	chr6	26545481	26545482	+	Frame_Shift_Ins	INS	-	-	TT													gctaaaggtgataaagcaaaINSggtgaaggatgagccacaga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:26545481_26545482insTT	ENST00000377575.2	+	2	224_225	c.47_48insTT	c.(46-51)aaggtgfs	p.KV16fs		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	16						chromatin|nucleus	DNA binding			lung(2)|skin(1)	3						GATAAAGCAAAGGTGAAGGATG	0.525													False	0	True	6:26545481	0	TT	26545482	-	TT	26545481	7	5	92	1	0	1	1	0	0	0	0	0	7284	72	3	0	49	0	HMGN4	6	26545481	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	718621	26545481	144569586	114	29099	336	2									
HMGN4	10473	broad.mit.edu	37	chr6	26545482	26545483	+	Frame_Shift_Ins	INS	-	-	ACTATATT													ctaaaggtgataaagcaaagINSgtgaaggatgagccacagag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:26545482_26545483insACTATATT	ENST00000377575.2	+	2	225_226	c.48_49insACTATATT	c.(49-51)gtgfs	p.V17fs		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	17						chromatin|nucleus	DNA binding	p.V17L(1)		lung(2)|skin(1)	3						ATAAAGCAAAGGTGAAGGATGA	0.52													False	0	False	6:26545482	0	ACTATATT	26545483	-	ACTATATT	26545482	7	5	92	1	0	1	1	0	0	0	0	0	7284	991	35	0	50	0	HMGN4	6	26545482	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	26545482	144569585	115	29100	336	2									
ZNF165	7718	broad.mit.edu	37	chr6	28056518	28056519	+	In_Frame_Ins	INS	-	-	ATATTACCT													tgggaaaaagaatcaggggaINSgtctcagagactctcgtctg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:28056518_28056519insATATTACCT	ENST00000377325.1	+	4	1284_1285	c.728_729insATATTACCT	c.(727-732)gagtct>gaATATTACCTgtct	p.243_244ES>EYYLS		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	243					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAATCAGGGGAGTCTCAGAGAC	0.446													False	0	False	6:28056518	0	ATATTACCT	28056519	-	ATATTACCT	28056518	7	5	92	1	0	1	1	0	0	0	0	0	17823	304	11	0	738	0	ZNF165	6	28056518	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1511036	28056518	143058549	116	29101											
PGBD1	84547	broad.mit.edu	37	chr6	28265720	28265721	+	Frame_Shift_Ins	INS	-	-	AAATCATA													tttaaagcaaagcaagaaacINSttctgaagaaatggaacaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:28265720_28265721insAAATCATA	ENST00000405948.2	+	6	1241_1242	c.821_822insAAATCATA	c.(820-825)acttctfs	p.S275fs	PGBD1_ENST00000259883.3_Frame_Shift_Ins_p.S275fs	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	275					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAGCAAGAAACTTCTGAAGAAA	0.337													False	0	False	6:28265720	0	AAATCATA	28265721	-	AAATCATA	28265720	7	5	92	1	0	1	1	0	0	0	0	0	11849	565	20	0	839	0	PGBD1	6	28265720	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	209202	28265720	142849347	117	29102											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28333528	28333529	+	Frame_Shift_Ins	INS	-	-	CTTCTGC													ctgcccttgtcattcatcagINSagagtccacactggtgagaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:28333528_28333529insCTTCTGC	ENST00000377255.3	+	7	1380_1381	c.1083_1084insCTTCTGC	c.(1084-1086)agafs	p.R362fs	ZKSCAN3_ENST00000252211.2_Frame_Shift_Ins_p.R362fs|ZKSCAN3_ENST00000341464.5_Frame_Shift_Ins_p.R214fs	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	362					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TCATTCATCAGAGAGTCCACAC	0.49													False	0	True	6:28333528	0	CTTCTGC	28333529	-	CTTCTGC	28333528	7	5	92	1	0	1	1	0	0	0	0	0	17771	933	33	0	1101	0	ZKSCAN3	6	28333528	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	67808	28333528	142781539	118	29103											
MDC1	9656	broad.mit.edu	37	chr6	30673587	30673588	+	In_Frame_Ins	INS	-	-	TTACTA													gtggaagggtggggctcaggINSggcagcagaggtagctggaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:30673587_30673588insTTACTA	ENST00000376406.3	-	10	4019_4020	c.3372_3373insTAGTAA	c.(3370-3375)gcccct>gccTAGTAAcct	p.1124_1125AP>A**P	MDC1_ENST00000376405.2_In_Frame_Ins_p.860_861AP>A**P|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1124	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGGGGCTCAGGGGCAGCAGAGG	0.574								Other conserved DNA damage response genes					False	0	True	6:30673587	0	TTACTA	30673588	-	TTACTA	30673587	7	5	92	1	0	1	1	0	0	0	0	0	9470	1232	43	0	2920	0	MDC1	6	30673587	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2340059	30673587	140441480	119	29104											
LSM2	57819	broad.mit.edu	37	chr6	31765634	31765635	+	Frame_Shift_Ins	INS	-	-	AATACTT													gtatcggaccactgagccccINSgaatgaagcagttcttcact							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:31765634_31765635insAATACTT	ENST00000375661.5	-	5	413_414	c.187_188insAAGTATT	c.(187-189)cggfs	p.R63fs	LSM2_ENST00000491421.1_5'UTR	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	63					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding			large_intestine(1)|lung(1)	2						CACTGAGCCCCGAATGAAGCAG	0.505													False	0	True	6:31765634	0	AATACTT	31765635	-	AATACTT	31765634	7	5	92	1	0	1	1	0	0	0	0	0	9118	652	23	0	103	0	LSM2	6	31765634	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1092047	31765634	139349433	120	29105											
RING1	6015	broad.mit.edu	37	chr6	33179685	33179686	+	Frame_Shift_Del	DEL	GT	GT	-													gggtgggggtgccggaggagGtgacggtcctgaggagcctg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:33179685_33179686delGT	ENST00000374656.4	+	6	1233_1234	c.1025_1026delGT	c.(1024-1026)ggtfs	p.G342fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	342	Gly-rich.|Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GCCGGAGGAGGTGACGGTCCTG	0.668													False	1	False	6:33179685	0	-	33179686	GT	-	33179685	7	5	92	1	0	1	0	1	0	0	0	0	13453	1261	44	0	1043	0	RING1	6	33179685	Frame_Shift_Del	DEL	GT	TCGA-IB-7887-01A-11D-2154-08	1414051	33179685	137935382	121	29106											
CUTA	51596	broad.mit.edu	37	chr6	33384521	33384522	+	Frame_Shift_Ins	INS	-	-	ATTTG													ctgttccacaggcaatgcaaINSttacctcggccacttcgtaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:33384521_33384522insATTTG	ENST00000374500.5	-	6	633_634	c.502_503insCAAAT	c.(502-504)attfs	p.I168fs	CUTA_ENST00000440279.3_Frame_Shift_Ins_p.I126fs|CUTA_ENST00000374496.3_Frame_Shift_Ins_p.I126fs|CUTA_ENST00000488478.1_Frame_Shift_Ins_p.-132fs|CUTA_ENST00000488034.1_Frame_Shift_Ins_p.I149fs|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000607266.1_Frame_Shift_Ins_p.I126fs	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	149					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						AGGCAATGCAATTACCTCGGCC	0.52													False	0	True	6:33384521	0	ATTTG	33384522	-	ATTTG	33384521	7	5	92	1	0	1	1	0	0	0	0	0	4087	101	4	0	97	0	CUTA	6	33384521	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	204836	33384521	137730546	122	29107											
CUL9	23113	broad.mit.edu	37	chr6	43153325	43153326	+	Frame_Shift_Ins	INS	-	-	AGATTCTA													tgaagaacactgcatggcctINSttgagggcattcatctgcct							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:43153325_43153326insAGATTCTA	ENST00000372647.2	+	3	801_802	c.727_728insAGATTCTA	c.(727-729)tttfs	p.F243fs	CUL9_ENST00000354495.3_Frame_Shift_Ins_p.F243fs|CUL9_ENST00000252050.4_Frame_Shift_Ins_p.F243fs			Q8IWT3	CUL9_HUMAN	cullin 9	243					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGCATGGCCTTTGAGGGCATT	0.475													False	0	True	6:43153325	0	AGATTCTA	43153326	-	AGATTCTA	43153325	7	5	92	1	0	1	1	0	0	0	0	0	4086	1609	56	0	733	0	CUL9	6	43153325	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	9768804	43153325	127961742	123	29108											
CDC5L	988	broad.mit.edu	37	chr6	44371659	44371660	+	Frame_Shift_Ins	INS	-	-	TCATATGCCATGTGACAGGGATAAATTATCCCATACAGTT													gccgaaatcccatttgaaaaINSaaagcctgcccttggttttt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:44371659_44371660insTCATATGCCATGTGACAGGGATAAATTATCCCATACAGTT	ENST00000371477.3	+	6	952_953	c.653_654insTCATATGCCATGTGACAGGGATAAATTATCCCATACAGTT	c.(652-657)aaaaagfs	p.K218fs		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	218					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCATTTGAAAAAAAGCCTGCCC	0.391													False	0	True	6:44371659	0	TCATATGCCATGTGACAGGGATAAATTATCCCATACAGTT	44371660	-	TCATATGCCATGTGACAGGGATAAATTATCCCATACAGTT	44371659	7	5	92	1	0	1	1	0	0	0	0	0	3105	14	1	0	675	0	CDC5L	6	44371659	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1218334	44371659	126743408	124	29109											
MYO6	4646	broad.mit.edu	37	chr6	76527372	76527373	+	In_Frame_Ins	INS	-	-	TTTTGAAATATATATAAAACAAAT													caattgaacccttgaatcagINSaaaggcaaggtgagtttctc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:76527372_76527373insTTTTGAAATATATATAAAACAAAT	ENST00000369985.4	+	2	370_371	c.108_109insTTTTGAAATATATATAAAACAAAT	c.(109-111)aaa>TTTTGAAATATATATAAAACAAATaaa	p.36_37insF*NIYKTN	MYO6_ENST00000369977.3_In_Frame_Ins_p.36_37insF*NIYKTN|MYO6_ENST00000369975.1_In_Frame_Ins_p.36_37insF*NIYKTN|MYO6_ENST00000369981.3_In_Frame_Ins_p.36_37insF*NIYKTN			Q9UM54	MYO6_HUMAN	myosin VI	36	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCTTGAATCAGAAAGGCAAGGT	0.406													False	0	True	6:76527372	0	TTTTGAAATATATATAAAACAAAT	76527373	-	TTTTGAAATATATATAAAACAAAT	76527372	7	5	92	1	0	1	1	0	0	0	0	0	10148	933	33	0	110	0	MYO6	6	76527372	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	32155713	76527372	94587695	125	29110											
RPS12	6206	broad.mit.edu	37	chr6	133136193	133136194	+	In_Frame_Ins	INS	-	-	TCA													catccacgatggcctagcacINSgtggaattcgcgaagctgcc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:133136193_133136194insTCA	ENST00000230050.3	+	3	307_308	c.97_98insTCA	c.(97-99)cgt>cTCAgt	p.33_33R>LS		NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	33					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		TGGCCTAGCACGTGGAATTCGC	0.485													False	0	False	6:133136193	0	TCA	133136194	-	TCA	133136193	7	5	92	1	0	1	1	0	0	0	0	0	13701	536	19	0	103	0	RPS12	6	133136193	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	56608821	133136193	37978874	126	29111											
HIVEP2	3097	broad.mit.edu	37	chr6	143081315	143081316	+	Frame_Shift_Ins	INS	-	-	AAAGAGATGT													gcttgagggtgagaagtcccINStgggagaggagcttggctct							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:143081315_143081316insAAAGAGATGT	ENST00000367604.1	-	8	6748_6749	c.6109_6110insACATCTCTTT	c.(6109-6111)aggfs	p.R2037fs	HIVEP2_ENST00000367603.2_Frame_Shift_Ins_p.R2037fs|HIVEP2_ENST00000012134.2_Frame_Shift_Ins_p.R2037fs			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2037					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGAGAAGTCCCTGGGAGAGGAG	0.47													False	0	True	6:143081315	0	AAAGAGATGT	143081316	-	AAAGAGATGT	143081315	7	5	92	1	0	1	1	0	0	0	0	0	7234	681	24	0	1238	0	HIVEP2	6	143081315	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	9945122	143081315	28033752	127	29112											
RMND1	55005	broad.mit.edu	37	chr6	151766776	151766777	+	Frame_Shift_Ins	INS	-	-	GGGTTCTAAATGG													tattcaaaccactagctgttINSttatcaggaaggaacaaatc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:151766776_151766777insGGGTTCTAAATGG	ENST00000367303.4	-	2	292_293	c.170_171insCCATTTAGAACCC	c.(169-171)aaafs	p.K57fs	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	57										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CACTAGCTGTTTTATCAGGAAG	0.386													False	0	True	6:151766776	0	GGGTTCTAAATGG	151766777	-	GGGTTCTAAATGG	151766776	7	5	92	1	0	1	1	0	0	0	0	0	13475	1838	64	0	1222	0	RMND1	6	151766776	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	8685461	151766776	19348291	128	29113											
DGKB	1607	broad.mit.edu	37	chr7	14724956	14724956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttgttaaagtgcttcagtCgccacacgtgctgtccatca	9	11	2	0			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:14724956C>T	ENST00000403951.2	-	10	1162	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	DGKB_ENST00000406247.3_Missense_Mutation_p.R248Q|DGKB_ENST00000258767.5_Missense_Mutation_p.R248Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.R248Q|DGKB_ENST00000407950.1_Missense_Mutation_p.R241Q|DGKB_ENST00000444700.2_Missense_Mutation_p.R241Q|DGKB_ENST00000399322.3_Missense_Mutation_p.R248Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	248					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GTGCTTCAGTCGCCACACGTG	0.463													False	0	False	7:14724956	0	T	14724956	C	T	14724956	3	4	92	1	0	0	0	0	1	0	0	0	4496	884	31	1	1754	1	DGKB	7	14724956	Missense_Mutation	SNP	C	TCGA-IB-7887-01A-11D-2154-08		14724956	144413707	129	29114											
GLI3	2737	broad.mit.edu	37	chr7	42004926	42004926	+	Missense_Mutation	SNP	A	A	C													cccatactgcggggccttacAgggctgttcatggaaggcgt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:42004926A>C	ENST00000395925.3	-	15	3829	c.3745T>G	c.(3745-3747)Tgt>Ggt	p.C1249G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1249					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGGCCTTACAGGGCTGTTCA	0.612									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	True	7:42004926	0	C	42004926	A	C	42004926	3	2	92	1	0	0	0	0	1	0	0	0	6484	188	7	4	1001	4	GLI3	7	42004926	Missense_Mutation	SNP	A	TCGA-IB-7887-01A-11D-2154-08	27279970	42004926	117133737	130	29115	337	2									
GLI3	2737	broad.mit.edu	37	chr7	42004927	42004927	+	Silent	SNP	G	G	A													ccatactgcggggccttacaGggctgttcatggaaggcgtt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:42004927G>A	ENST00000395925.3	-	15	3828	c.3744C>T	c.(3742-3744)ccC>ccT	p.P1248P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1248					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGCCTTACAGGGCTGTTCAT	0.617									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	True	7:42004927	0	A	42004927	G	A	42004927	2	1	92	1	0	0	0	0	0	0	0	1	6484	987	35	2		2	GLI3	7	42004927	Silent	SNP	G	TCGA-IB-7887-01A-11D-2154-08	1	42004927	117133736	131	29116	337	2									
YWHAG	7532	broad.mit.edu	37	chr7	75959197	75959198	+	Frame_Shift_Ins	INS	-	-	TACAAGG													aggccttctcggaggactccINSaccaccgtcgcccttttctc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:75959197_75959198insTACAAGG	ENST00000307630.3	-	2	662_663	c.440_441insCCTTGTA	c.(439-441)gtgfs	p.V147fs		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	147					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CGGAGGACTCCACCACCGTCGC	0.574													False	0	False	7:75959197	0	TACAAGG	75959198	-	TACAAGG	75959197	7	5	92	1	0	1	1	0	0	0	0	0	17587	581	21	0	306	0	YWHAG	7	75959197	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	33954270	75959197	83179466	132	29117											
KIAA1324L	222223	broad.mit.edu	37	chr7	86556230	86556231	+	Frame_Shift_Ins	INS	-	-	CCTCCTGGAACATTTTCAGATGGAACCAAAG													tccacttgtacattatctgtINSgtctacaaaaaaaaaaaaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:86556230_86556231insCCTCCTGGAACATTTTCAGATGGAACCAAAG	ENST00000416314.1	-	8	785_786	c.590_591insCTTTGGTTCCATCTGAAAATGTTCCAGGAGG	c.(589-591)acafs	p.-197fs	KIAA1324L_ENST00000297222.6_Frame_Shift_Ins_p.-124fs|KIAA1324L_ENST00000450689.2_Frame_Shift_Ins_p.-364fs|KIAA1324L_ENST00000444627.1_Frame_Shift_Ins_p.-364fs	NM_152748.3	NP_689961.3	A8MWY0	K132L_HUMAN	KIAA1324-like							integral to membrane		p.T124T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ACATTATCTGTGTCTACaaaaa	0.376													False	0	False	7:86556230	0	CCTCCTGGAACATTTTCAGATGGAACCAAAG	86556231	-	CCTCCTGGAACATTTTCAGATGGAACCAAAG	86556230	7	5	92	1	0	1	1	0	0	0	0	0	8274	1683	59	0	2053	0	KIAA1324L	7	86556230	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	10597033	86556230	72582433	133	29118											
RUNDC3B	154661	broad.mit.edu	37	chr7	87436829	87436830	+	In_Frame_Ins	INS	-	-	CAGAGGAACCTAATGGTATCAATT													gaaaacacaataaacagtggINStatgagtaagtgtaatactt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:87436829_87436830insCAGAGGAACCTAATGGTATCAATT	ENST00000338056.3	+	10	1560_1561	c.1149_1150insCAGAGGAACCTAATGGTATCAATT	c.(1150-1152)tat>CAGAGGAACCTAATGGTATCAATTtat	p.383_384insQRNLMVSI	RUNDC3B_ENST00000394654.3_In_Frame_Ins_p.366_367insQRNLMVSI|RUNDC3B_ENST00000493037.1_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	383										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ATAAACAGTGGTATGAGTAAGT	0.381													False	0	False	7:87436829	0	CAGAGGAACCTAATGGTATCAATT	87436830	-	CAGAGGAACCTAATGGTATCAATT	87436829	7	5	92	1	0	1	1	0	0	0	0	0	13824	1270	44	0	1187	0	RUNDC3B	7	87436829	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	880599	87436829	71701834	134	29119											
C7orf63	79846	broad.mit.edu	37	chr7	89912365	89912366	+	In_Frame_Ins	INS	-	-	ATATCA													aagggaacaattcagcaaatINSgataggtaaaatataacatg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:89912365_89912366insATATCA	ENST00000389297.4	+	13	1783_1784	c.1532_1533insATATCA	c.(1531-1536)atgata>atATATCAgata	p.511_511M>IYQ	C7orf63_ENST00000316089.8_In_Frame_Ins_p.511_511M>IYQ|C7orf63_ENST00000497910.1_In_Frame_Ins_p.493_493M>IYQ	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	511							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATTCAGCAAATGATAGGTAAAA	0.332													False	0	False	7:89912365	0	ATATCA	89912366	-	ATATCA	89912365	7	5	92	1	0	1	1	0	0	0	0	0	2428	1464	51	0	1582	0	C7orf63	7	89912365	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2475536	89912365	69226298	135	29120											
WEE2	494551	broad.mit.edu	37	chr7	141408664	141408665	+	In_Frame_Ins	INS	-	-	AGAAAATAA													agtagaagaaagcagggaggINScttcgagccaaaccccagag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:141408664_141408665insAGAAAATAA	ENST00000397541.2	+	1	512_513	c.106_107insAGAAAATAA	c.(106-108)gct>gAGAAAATAAct	p.36_36A>EKIT	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	36					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AAGCAGGGAGGCTTCGAGCCAA	0.465													False	0	False	7:141408664	0	AGAAAATAA	141408665	-	AGAAAATAA	141408664	7	5	92	1	0	1	1	0	0	0	0	0	17429	1203	42	0	108	0	WEE2	7	141408664	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	51496299	141408664	17729999	136	29121											
CTSB	1508	broad.mit.edu	37	chr8	11705590	11705591	+	Frame_Shift_Ins	INS	-	-	A													cttacctacatgggattcatINSagaggccaccagaaaccagg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:11705590_11705591insA	ENST00000353047.6	-	6	770_771	c.517_518insT	c.(517-519)tatfs	p.Y173fs	CTSB_ENST00000531089.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000453527.2_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000534510.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000530640.2_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000434271.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000533455.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000345125.3_Frame_Shift_Ins_p.Y173fs	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	173					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		ATGGGATTCATAGAGGCCACCA	0.45													False	1	False	8:11705590	0	A	11705591	-	A	11705590	7	5	92	1	0	1	1	0	0	0	0	0	4055	1406	49	0	521	0	CTSB	8	11705590	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08		11705590	134658432	137	29122											
NEFL	4747	broad.mit.edu	37	chr8	24811789	24811790	+	RNA	INS	-	-	TTTGAAA													atttcactctttgtggtcctINScaattcattttctaatttgt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:24811789_24811790insTTTGAAA	ENST00000221169.5	-	0	1668_1669							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TTTGTGGTCCTCAATTCATTTT	0.351													False	0	False	8:24811789	0	TTTGAAA	24811790	-	TTTGAAA	24811789	6	5	92	0	1	1	1	0	0	0	0	0	10383	1550	54	0		0	NEFL	8	24811789	RNA	INS	-	TCGA-IB-7887-01A-11D-2154-08	13106199	24811789	121552233	138	29123											
NRG1	3084	broad.mit.edu	37	chr8	32505402	32505402	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggactcgtgggcctggccGtgccctgctgtgcgtgccta	15	14	0	0	rs148668339		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:32505402G>A	ENST00000520502.2	+	1	166	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	NRG1_ENST00000520407.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGGCCTGGCCGTGCCCTGCTG	0.602													False	0	False	8:32505402	0	A	32505402	G	A	32505402	3	1	92	1	0	0	0	0	1	0	0	0	10715	1145	40	1	1441	1	NRG1	8	32505402	Missense_Mutation	SNP	G	TCGA-IB-7887-01A-11D-2154-08	7693613	32505402	113858620	139	29124											
ADAM32	203102	broad.mit.edu	37	chr8	39068803	39068804	+	Frame_Shift_Ins	INS	-	-	TATACTTCTGGAAACACATTTCTATATGATATAAATTA													ccagtctgtggcaatggcagINSattggagggaaatgaaatct							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:39068803_39068804insTATACTTCTGGAAACACATTTCTATATGATATAAATTA	ENST00000379907.4	+	12	1320_1321	c.1193_1194insTATACTTCTGGAAACACATTTCTATATGATATAAATTA	c.(1192-1197)agattgfs	p.RL398fs	ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Intron	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	398	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GGCAATGGCAGATTGGAGGGAA	0.327													False	0	False	8:39068803	0	TATACTTCTGGAAACACATTTCTATATGATATAAATTA	39068804	-	TATACTTCTGGAAACACATTTCTATATGATATAAATTA	39068803	7	5	92	1	0	1	1	0	0	0	0	0	249	942	33	0	1239	0	ADAM32	8	39068803	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	6563401	39068803	107295219	140	29125											
ADAM18	8749	broad.mit.edu	37	chr8	39525716	39525717	+	Splice_Site	INS	-	-	AAAAA													gccaagatatttggaaaaggINStattgctctttctttcgtat							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:39525716_39525717insAAAAA	ENST00000265707.5	+	14	1570		c.e14+1		ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTGGAAAAGGTATTGCTCTTT	0.381													False	0	False	8:39525716	0	AAAAA	39525717	-	AAAAA	39525716	8	5	92	1	0	1	1	0	0	0	1	0	239	1275	44	0	1580	0	ADAM18	8	39525716	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	456913	39525716	106838306	141	29126	338	2									
ADAM18	8749	broad.mit.edu	37	chr8	39525717	39525718	+	Splice_Site	INS	-	-	AAA													ccaagatatttggaaaaggtINSattgctctttctttcgtatt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:39525717_39525718insAAA	ENST00000265707.5	+	14	1570		c.e14+2		ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTGGAAAAGGTATTGCTCTTTC	0.381													False	1	False	8:39525717	0	AAA	39525718	-	AAA	39525717	8	5	92	1	0	1	1	0	0	0	1	0	239	1652	57	0	1581	0	ADAM18	8	39525717	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	39525717	106838305	142	29127	338	2									
UBXN2B	137886	broad.mit.edu	37	chr8	59345800	59345801	+	In_Frame_Ins	INS	-	-	TGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGAT													tggagaaaatcagctgcaagINSatgtaggtacaataatcaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:59345800_59345801insTGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGAT	ENST00000399598.2	+	4	543_544	c.421_422insTGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGAT	c.(421-423)gat>gTGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGATat	p.141_141D>VS*NSQRIIQQKVIM*Y	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	141	SEP.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TCAGCTGCAAGATGTAGGTACA	0.282													False	0	False	8:59345800	0	TGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGAT	59345801	-	TGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGAT	59345800	7	5	92	1	0	1	1	0	0	0	0	0	16999	942	33	0	435	0	UBXN2B	8	59345800	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	19820083	59345800	87018222	143	29128											
CLVS1	157807	broad.mit.edu	37	chr8	62212794	62212794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaaaccgagaccattaCggcaggaagattcttttgct	10	9	1	2			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:62212794C>T	ENST00000519846.1	+	3	880	c.408C>T	c.(406-408)taC>taT	p.Y136Y	RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Silent_p.Y136Y			Q8IUQ0	CLVS1_HUMAN	clavesin 1	136	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.Y136*(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGACCATTACGGCAGGAAGA	0.443													False	0	False	8:62212794	0	T	62212794	C	T	62212794	2	4	92	1	0	0	0	0	0	0	0	1	3594	547	19	1		1	CLVS1	8	62212794	Silent	SNP	C	TCGA-IB-7887-01A-11D-2154-08	2866994	62212794	84151228	144	29129											
CYP7B1	9420	broad.mit.edu	37	chr8	65517413	65517414	+	Splice_Site	INS	-	-	CTTAGA													aagcttcaaaaatgctgcttINStctgaaggaaaaaaacaaac							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:65517413_65517414insCTTAGA	ENST00000310193.3	-	5	1231_1232	c.1058_1059insTCTAAG	c.(1057-1059)gaa>gaTCTAAGa	p.353_353E>DLR	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	353					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AAATGCTGCTTTCTGAAGGAAA	0.396													False	0	True	8:65517413	0	CTTAGA	65517414	-	CTTAGA	65517413	8	5	92	1	0	1	1	0	0	0	1	0	4222	1855	64	0	469	0	CYP7B1	8	65517413	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	3304619	65517413	80846609	145	29130	339	2									
CYP7B1	9420	broad.mit.edu	37	chr8	65517415	65517416	+	Splice_Site	INS	-	-	CTG													gcttcaaaaatgctgctttcINStgaaggaaaaaaacaaacga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:65517415_65517416insCTG	ENST00000310193.3	-	5	1231		c.e5-1		CYP7B1_ENST00000523954.1_Splice_Site	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1						bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ATGCTGCTTTCTGAAGGAAAAA	0.396													False	0	False	8:65517415	0	CTG	65517416	-	CTG	65517415	8	5	92	1	0	1	1	0	0	0	1	0	4222	927	32	0	471	0	CYP7B1	8	65517415	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	65517415	80846607	146	29131	339	2									
RAD54B	25788	broad.mit.edu	37	chr8	95384604	95384605	+	Translation_Start_Site	INS	-	-	TGGAGATCATTTAAATCTTA													ctagagacaatgaatttttcINScaacgaatcacctgtaataa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:95384604_95384605insTGGAGATCATTTAAATCTTA	ENST00000519348.1	-	0	89_90				RAD54B_ENST00000336148.5_Frame_Shift_Ins_p.E843fs			O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)						double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATGAATTTTTCCAACGAATCAC	0.351								Direct reversal of damage;Homologous recombination					False	0	False	8:95384604	0	TGGAGATCATTTAAATCTTA	95384605	-	TGGAGATCATTTAAATCTTA	95384604	6	5	92	1	0	1	1	0	0	0	0	0	13071	864	30	0		0	RAD54B	8	95384604	Translation_Start_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	29867189	95384604	50979418	147	29132											
PABPC1	26986	broad.mit.edu	37	chr8	101719224	101719225	+	Splice_Site	INS	-	-	GGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA													caccgggcatattttggaatINSgctgcattttaaagatgtga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:101719224_101719225insGGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA	ENST00000318607.5	-	10	2465_2466	c.1337_1338insTAAGACCAAGTCCTCGCTGGACTGCTCAGGGTGCCAGACCTCATCC	c.(1336-1338)cca>ccTAAGACCAAGTCCTCGCTGGACTGCTCAGGGTGCCAGACCTCATCCa	p.-446fs	PABPC1_ENST00000522387.1_Splice_Site_p.-414fs|PABPC1_ENST00000519004.1_Splice_Site_p.-401fs|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TATTTTGGAATGCTGCATTTTA	0.416													False	0	False	8:101719224	0	GGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA	101719225	-	GGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA	101719224	8	5	92	1	0	1	1	0	0	0	1	0	11431	1478	51	0	592	0	PABPC1	8	101719224	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	6334620	101719224	44644798	148	29133											
MTBP	27085	broad.mit.edu	37	chr8	121500556	121500557	+	Frame_Shift_Ins	INS	-	-	ATTATCTT													gaaagatgaaaacaaagacaINSgaagaagccaaattgagtaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:121500556_121500557insATTATCTT	ENST00000305949.1	+	12	1368_1369	c.1323_1324insATTATCTT	c.(1324-1326)gaafs	p.E442fs		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	442					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAACAAAGACAGAAGAAGCCAA	0.351													False	0	False	8:121500556	0	ATTATCTT	121500557	-	ATTATCTT	121500556	7	5	92	1	0	1	1	0	0	0	0	0	9979	175	7	0	1369	0	MTBP	8	121500556	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	19781332	121500556	24863466	149	29134	340	2									
MTBP	27085	broad.mit.edu	37	chr8	121500557	121500558	+	Frame_Shift_Ins	INS	-	-	TT													aaagatgaaaacaaagacagINSaagaagccaaattgagtaag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:121500557_121500558insTT	ENST00000305949.1	+	12	1369_1370	c.1324_1325insTT	c.(1324-1326)gaafs	p.E442fs		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	442					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AACAAAGACAGAAGAAGCCAAA	0.351													False	0	False	8:121500557	0	TT	121500558	-	TT	121500557	7	5	92	1	0	1	1	0	0	0	0	0	9979	943	33	0	1370	0	MTBP	8	121500557	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	121500557	24863465	150	29135	340	2									
ZC3H3	23144	broad.mit.edu	37	chr8	144620857	144620858	+	Frame_Shift_Ins	INS	-	-	CC													ggaggatgggaagctcgcctINStgacggcaatcacactctca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:144620857_144620858insCC	ENST00000262577.5	-	2	710_711	c.679_680insGG	c.(679-681)aagfs	p.K227fs		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	227					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GAAGCTCGCCTTGACGGCAATC	0.658													False	0	False	8:144620857	0	CC	144620858	-	CC	144620857	7	5	92	1	0	1	1	0	0	0	0	0	17652	1609	56	0	2210	0	ZC3H3	8	144620857	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	23120300	144620857	1743165	151	29136	341	2									
ZC3H3	23144	broad.mit.edu	37	chr8	144620858	144620859	+	Frame_Shift_Ins	INS	-	-	C													gaggatgggaagctcgccttINSgacggcaatcacactctcac							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:144620858_144620859insC	ENST00000262577.5	-	2	709_710	c.678_679insG	c.(676-681)gtcaagfs	p.K227fs		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	227					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AAGCTCGCCTTGACGGCAATCA	0.658													False	0	False	8:144620858	0	C	144620859	-	C	144620858	7	5	92	1	0	1	1	0	0	0	0	0	17652	1821	63	0	2211	0	ZC3H3	8	144620858	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	144620858	1743164	152	29137	341	2									
PARP10	84875	broad.mit.edu	37	chr8	145059772	145059798	+	In_Frame_Del	DEL	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-													ggccagggacaccaaggtccCctccaggcccagattctggg					rs146902781	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	-	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:145059772_145059798delCCTCCAGGCCCAGATTCTGGGCCTGCT	ENST00000524918.1	-	4	541_567	c.455_481delAGCAGGCCCAGAATCTGGGCCTGGAGG	c.(454-483)gagcaggcccagaatctgggcctggagggg>ggg	p.EQAQNLGLE152del	PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_In_Frame_Del_p.EQAQNLGLE164del|PARP10_ENST00000313028.7_In_Frame_Del_p.EQAQNLGLE152del			Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	152						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAAGGTCCCCTCCAGGCCCAGATTCTGGGCCTGCTCCTCCAGGAC	0.648													False	1	False	8:145059772	0	-	145059798	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	145059772	7	5	92	1	0	1	0	1	0	0	0	0	11523	623	22	0	2628	0	PARP10	8	145059772	In_Frame_Del	DEL	CCTCCAGGCCCAGATTCTGGGCCTGCT	TCGA-IB-7887-01A-11D-2154-08	438914	145059772	1304250	153	29138											
KIAA2026	158358	broad.mit.edu	37	chr9	5920807	5920807	+	Frame_Shift_Del	DEL	A	A	-													ttaaacatttaggagacactActggttgtgtagttgaaatc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:5920807delA	ENST00000399933.3	-	8	5188	c.5189delT	c.(5188-5190)gtafs	p.V1731fs	KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.V1701fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1731										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGGAGACACTACTGGTTGTGT	0.403													False	1	False	9:5920807	0	-	5920807	A	-	5920807	7	5	92	1	0	1	0	1	0	0	0	0	8320	391	14	0	1126	0	KIAA2026	9	5920807	Frame_Shift_Del	DEL	A	TCGA-IB-7887-01A-11D-2154-08		5920807	135292624	154	29139											
KIAA2026	158358	broad.mit.edu	37	chr9	5922066	5922067	+	Frame_Shift_Ins	INS	-	-	TACATTAG													gaggagcaaaagtgaaaactINSgaacttgaagatacagtatt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:5922066_5922067insTACATTAG	ENST00000399933.3	-	8	3928_3929	c.3929_3930insCTAATGTA	c.(3928-3930)tcafs	p.-1310fs	KIAA2026_ENST00000381461.2_Frame_Shift_Ins_p.-1280fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026											breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAGTGAAAACTGAACTTGAAGA	0.421													False	0	False	9:5922066	0	TACATTAG	5922067	-	TACATTAG	5922066	7	5	92	1	0	1	1	0	0	0	0	0	8320	1567	55	0	2385	0	KIAA2026	9	5922066	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1259	5922066	135291365	155	29140											
NFIB	4781	broad.mit.edu	37	chr9	14120540	14120541	+	Frame_Shift_Ins	INS	-	-	TAAGATTAGCACCTAAG													ctgattgttggatgagaaaaINSgtagctcgatggggctggag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:14120540_14120541insTAAGATTAGCACCTAAG	ENST00000380959.3	-	8	1616_1617	c.1143_1144insCTTAGGTGCTAATCTTA	c.(1141-1146)tactttfs	p.F382fs	NFIB_ENST00000397581.2_Frame_Shift_Ins_p.F382fs|NFIB_ENST00000380924.1_Frame_Shift_Ins_p.F130fs|NFIB_ENST00000397575.3_Frame_Shift_Ins_p.F382fs|NFIB_ENST00000543693.1_Frame_Shift_Ins_p.F130fs|NFIB_ENST00000380934.4_Frame_Shift_Ins_p.F408fs|NFIB_ENST00000380953.1_Frame_Shift_Ins_p.F382fs|NFIB_ENST00000397579.2_Frame_Shift_Ins_p.F382fs	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	382					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GGATGAGAAAAGTAGCTCGATG	0.48			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								False	0	True	9:14120540	0	TAAGATTAGCACCTAAG	14120541	-	TAAGATTAGCACCTAAG	14120540	7	5	92	1	0	1	1	0	0	0	0	0	10439	72	3	0	126	0	NFIB	9	14120540	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	8198474	14120540	127092891	156	29141											
SLC24A2	25769	broad.mit.edu	37	chr9	19516348	19516349	+	In_Frame_Ins	INS	-	-	AGCATGAATGGT													aggccattgctgctgacagcINScactggctggaatctgtgaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:19516348_19516349insAGCATGAATGGT	ENST00000341998.2	-	10	1849_1850	c.1788_1789insACCATTCATGCT	c.(1786-1791)gtggct>gtgACCATTCATGCTgct	p.596_597VA>VTIHAA	SLC24A2_ENST00000286344.3_In_Frame_Ins_p.579_580VA>VTIHAA	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	596					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTGCTGACAGCCACTGGCTGGA	0.55													False	0	False	9:19516348	0	AGCATGAATGGT	19516349	-	AGCATGAATGGT	19516348	7	5	92	1	0	1	1	0	0	0	0	0	14546	739	26	0	200	0	SLC24A2	9	19516348	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	5395808	19516348	121697083	157	29142											
TLN1	7094	broad.mit.edu	37	chr9	35722212	35722213	+	Frame_Shift_Ins	INS	-	-	CCTAAGA													cactcatctgcccacaattcINSttgtgtgcctgtgcataaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:35722212_35722213insCCTAAGA	ENST00000314888.9	-	9	1204_1205	c.851_852insTCTTAGG	c.(850-852)aagfs	p.K284fs	TLN1_ENST00000540444.1_Frame_Shift_Ins_p.K284fs	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	284	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCCACAATTCTTGTGTGCCTG	0.45													False	0	True	9:35722212	0	CCTAAGA	35722213	-	CCTAAGA	35722212	7	5	92	1	0	1	1	0	0	0	0	0	16029	912	32	0	6969	0	TLN1	9	35722212	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	16205864	35722212	105491219	158	29143											
GBA2	57704	broad.mit.edu	37	chr9	35737876	35737877	+	Frame_Shift_Ins	INS	-	-	TT													atggcccctcctgcaaaggcINSctggacgttcagctcaaaga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:35737876_35737877insTT	ENST00000378094.4	-	16	2886_2887	c.2373_2374insAA	c.(2371-2376)caggccfs	p.A792fs	GBA2_ENST00000545786.1_Frame_Shift_Ins_p.A798fs|GBA2_ENST00000378088.1_Frame_Shift_Ins_p.A93fs|GBA2_ENST00000378103.3_Frame_Shift_Ins_p.A792fs			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	792					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTGCAAAGGCCTGGACGTTCA	0.545													False	0	False	9:35737876	0	TT	35737877	-	TT	35737876	7	5	92	1	0	1	1	0	0	0	0	0	6310	739	26	0	417	0	GBA2	9	35737876	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	15664	35737876	105475555	159	29144											
TSTD2	158427	broad.mit.edu	37	chr9	100388179	100388180	+	Frame_Shift_Ins	INS	-	-	AACCCTGATGA													atgtctatggatgctggtttINSggtctgtgaatagctgccga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:100388179_100388180insAACCCTGATGA	ENST00000341170.4	-	3	647_648	c.265_266insTCATCAGGGTT	c.(265-267)caafs	p.Q89fs	TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	89										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GATGCTGGTTTGGTCTGTGAAT	0.406													False	0	True	9:100388179	0	AACCCTGATGA	100388180	-	AACCCTGATGA	100388179	7	5	92	1	0	1	1	0	0	0	0	0	16759	1812	63	0	1316	0	TSTD2	9	100388179	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	64650303	100388179	40825252	160	29145											
TMEFF1	8577	broad.mit.edu	37	chr9	103261138	103261139	+	Frame_Shift_Ins	INS	-	-	TATATATTTGGCTTTTTATTACGTG													aagatggagatggtttgaaaINStgtgcatgccaatttcaggt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:103261138_103261139insTATATATTTGGCTTTTTATTACGTG	ENST00000374879.4	+	2	720_721	c.288_289insTATATATTTGGCTTTTTATTACGTG	c.(289-291)tgtfs	p.C97fs	TMEFF1_ENST00000334943.6_Frame_Shift_Ins_p.C58fs|MSANTD3-TMEFF1_ENST00000502978.1_Frame_Shift_Ins_p.M60fs	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				ATGGTTTGAAATGTGCATGCCA	0.327													False	0	True	9:103261138	0	TATATATTTGGCTTTTTATTACGTG	103261139	-	TATATATTTGGCTTTTTATTACGTG	103261138	7	5	92	1	0	1	1	0	0	0	0	0	16095	98	4	0	294	0	TMEFF1	9	103261138	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2872959	103261138	37952293	161	29146											
SMC2	10592	broad.mit.edu	37	chr9	106878586	106878587	+	In_Frame_Ins	INS	-	-	AATGCAAGTTTAGTAGTC													tgcaccagaaactctgagagINSttgctcagaatcttgtaagt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:106878586_106878587insAATGCAAGTTTAGTAGTC	ENST00000286398.7	+	14	2065_2066	c.1777_1778insAATGCAAGTTTAGTAGTC	c.(1777-1779)gtt>gAATGCAAGTTTAGTAGTCtt	p.593_593V>ECKFSSL	SMC2_ENST00000374793.3_In_Frame_Ins_p.593_593V>ECKFSSL|SMC2_ENST00000374787.3_In_Frame_Ins_p.593_593V>ECKFSSL|SMC2_ENST00000303219.8_In_Frame_Ins_p.593_593V>ECKFSSL	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	593	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						aactctgagagttgctcagaat	0.342													False	0	False	9:106878586	0	AATGCAAGTTTAGTAGTC	106878587	-	AATGCAAGTTTAGTAGTC	106878586	7	5	92	1	0	1	1	0	0	0	0	0	14863	1029	36	0	1827	0	SMC2	9	106878586	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	3617448	106878586	34334845	162	29147											
ZNF483	158399	broad.mit.edu	37	chr9	114296606	114296607	+	In_Frame_Ins	INS	-	-	TTCTCC													tgaattgccatggctgctggINSaagaagtctcaaaaagctcc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:114296606_114296607insTTCTCC	ENST00000309235.5	+	5	852_853	c.694_695insTTCTCC	c.(694-696)gaa>gTTCTCCaa	p.232_232E>VLQ	ZNF483_ENST00000358151.4_In_Frame_Ins_p.232_232E>VLQ|ZNF483_ENST00000355824.3_In_Frame_Ins_p.232_232E>VLQ	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	232	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATGGCTGCTGGAAGAAGTCTCA	0.386													False	0	False	9:114296606	0	TTCTCC	114296607	-	TTCTCC	114296606	7	5	92	1	0	1	1	0	0	0	0	0	18019	1175	41	0	708	0	ZNF483	9	114296606	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	7418020	114296606	26916825	163	29148	342	2									
ZNF483	158399	broad.mit.edu	37	chr9	114296608	114296609	+	Frame_Shift_Ins	INS	-	-	G													aattgccatggctgctggaaINSgaagtctcaaaaagctcccg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:114296608_114296609insG	ENST00000309235.5	+	5	854_855	c.696_697insG	c.(697-699)gaafs	p.E233fs	ZNF483_ENST00000358151.4_Frame_Shift_Ins_p.E233fs|ZNF483_ENST00000355824.3_Frame_Shift_Ins_p.E233fs	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	233	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GGCTGCTGGAAGAAGTCTCAAA	0.386													False	1	False	9:114296608	0	G	114296609	-	G	114296608	7	5	92	1	0	1	1	0	0	0	0	0	18019	69	3	0	710	0	ZNF483	9	114296608	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	114296608	26916823	164	29149	342	2									
BSPRY	54836	broad.mit.edu	37	chr9	116116618	116116619	+	Splice_Site	INS	-	-	ATTTTCTCCT													ggaagaatcaaagagcagtgINSgtaattcctcttctttcctc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:116116618_116116619insATTTTCTCCT	ENST00000374183.4	+	2	339	c.300_300insATTTTCTCCT	c.(301-303)agc>agATTTTCTCCTc	p.S101fs	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	101					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAAGAGCAGTGGTAATTCCTCT	0.525													False	0	False	9:116116618	0	ATTTTCTCCT	116116619	-	ATTTTCTCCT	116116618	8	5	92	1	0	1	1	0	0	0	1	0	1539	1362	47	0	306	0	BSPRY	9	116116618	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	1820010	116116618	25096813	165	29150											
ZBTB34	403341	broad.mit.edu	37	chr9	129642528	129642529	+	Frame_Shift_Ins	INS	-	-	CTCTATCTGA													ctcctatggttctgtgctccINSagcacgcatactcctattcc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:129642528_129642529insCTCTATCTGA	ENST00000319119.4	+	2	935_936	c.850_851insCTCTATCTGA	c.(850-852)cagfs	p.Q284fs	ZBTB34_ENST00000373452.2_Frame_Shift_Ins_p.Q280fs	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						TTCTGTGCTCCAGCACGCATAC	0.53													False	0	False	9:129642528	0	CTCTATCTGA	129642529	-	CTCTATCTGA	129642528	7	5	92	1	0	1	1	0	0	0	0	0	17620	595	21	0	840	0	ZBTB34	9	129642528	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	13525910	129642528	11570903	166	29151											
CIZ1	25792	broad.mit.edu	37	chr9	130948036	130948037	+	Frame_Shift_Ins	INS	-	-	AACCCTTC													cgaggcctggggatgccatgINSccatagcctcggaggttacc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:130948036_130948037insAACCCTTC	ENST00000393608.1	-	5	579_580	c.377_378insGAAGGGTT	c.(376-378)ggcfs	p.G126fs	CIZ1_ENST00000357558.5_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000325721.8_Frame_Shift_Ins_p.G102fs|CIZ1_ENST00000541172.1_Frame_Shift_Ins_p.G25fs|CIZ1_ENST00000538431.1_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372954.1_Frame_Shift_Ins_p.G102fs|CIZ1_ENST00000277465.4_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000372948.3_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000372938.5_Frame_Shift_Ins_p.G126fs	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	126						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GGGATGCCATGCCATAGCCTCG	0.609													False	0	True	9:130948036	0	AACCCTTC	130948037	-	AACCCTTC	130948036	7	5	92	1	0	1	1	0	0	0	0	0	3464	1306	46	0	2370	0	CIZ1	9	130948036	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1305508	130948036	10265395	167	29152											
AKR1C3	8644	broad.mit.edu	37	chr10	5144829	5144830	+	Frame_Shift_Ins	INS	-	-	CATC													tacaatgagcagcgcatcagINSacagaacgtgcaggtgagga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:5144829_5144830insCATC	ENST00000380554.3	+	7	1485_1486	c.833_834insCATC	c.(832-837)agacagfs	p.RQ278fs	AKR1C3_ENST00000439082.2_Frame_Shift_Ins_p.RQ159fs|AKR1C3_ENST00000605149.1_Frame_Shift_Ins_p.RQ255fs	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	278					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CAGCGCATCAGACAGAACGTGC	0.599													False	0	True	10:5144829	0	CATC	5144830	-	CATC	5144829	7	5	92	1	0	1	1	0	0	0	0	0	471	942	33	0	859	0	AKR1C3	10	5144829	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08		5144829	130389918	168	29153											
CUBN	8029	broad.mit.edu	37	chr10	17107592	17107593	+	Frame_Shift_Ins	INS	-	-	AGCTATA													caaacaccagcatcaatgagINSttaccactgcttgtgagaga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:17107592_17107593insAGCTATA	ENST00000377833.4	-	22	3118_3119	c.3053_3054insTATAGCT	c.(3052-3054)aacfs	p.-1018fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCATCAATGAGTTACCACTGCT	0.411													False	0	False	10:17107592	0	AGCTATA	17107593	-	AGCTATA	17107592	7	5	92	1	0	1	1	0	0	0	0	0	4076	1020	36	0	8001	0	CUBN	10	17107592	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	11962763	17107592	118427155	169	29154	343	2									
CUBN	8029	broad.mit.edu	37	chr10	17107594	17107595	+	Frame_Shift_Ins	INS	-	-	TAGAATA													aacaccagcatcaatgagttINSaccactgcttgtgagagatg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:17107594_17107595insTAGAATA	ENST00000377833.4	-	22	3116_3117	c.3051_3052insTATTCTA	c.(3049-3054)ggtaacfs	p.N1018fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1018	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCAATGAGTTACCACTGCTTG	0.416													False	0	False	10:17107594	0	TAGAATA	17107595	-	TAGAATA	17107594	7	5	92	1	0	1	1	0	0	0	0	0	4076	1754	61	0	8003	0	CUBN	10	17107594	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	17107594	118427153	170	29155	343	2									
CCAR1	55749	broad.mit.edu	37	chr10	70531138	70531139	+	In_Frame_Ins	INS	-	-	TAGCCAAATTTCAACAGAAATAAT													gatgatgaaactgatgaaccINSaaaacccaaacggagaaaat							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:70531138_70531139insTAGCCAAATTTCAACAGAAATAAT	ENST00000265872.6	+	18	2593_2594	c.2474_2475insTAGCCAAATTTCAACAGAAATAAT	c.(2473-2478)ccaaaa>ccTAGCCAAATTTCAACAGAAATAATaaaa	p.825_826PK>PSQISTEIIK	CCAR1_ENST00000543719.1_In_Frame_Ins_p.810_811PK>PSQISTEIIK|CCAR1_ENST00000535016.1_In_Frame_Ins_p.810_811PK>PSQISTEIIK	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	825	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						actgatgaaccaaaacccaaac	0.327													False	0	True	10:70531138	0	TAGCCAAATTTCAACAGAAATAAT	70531139	-	TAGCCAAATTTCAACAGAAATAAT	70531138	7	5	92	1	0	1	1	0	0	0	0	0	2750	594	21	0	2540	0	CCAR1	10	70531138	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	53423544	70531138	65003609	171	29156											
KCNMA1	3778	broad.mit.edu	37	chr10	78647200	78647201	+	In_Frame_Ins	INS	-	-	CCCCCCTTTTTTTTT													gactggccggcattgtggtcINSaaactgcattaagcagaaga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:78647200_78647201insCCCCCCTTTTTTTTT	ENST00000286627.5	-	27	4312_4313	c.3360_3361insAAAAAAAAAGGGGGG	c.(3358-3363)tttgac>tttAAAAAAAAAGGGGGGgac	p.1120_1121FD>FKKKGGD	KCNMA1_ENST00000404771.3_In_Frame_Ins_p.1178_1179FD>FKKKGGD|KCNMA1_ENST00000286628.8_In_Frame_Ins_p.1178_1179FD>FKKKGGD|KCNMA1_ENST00000404857.1_In_Frame_Ins_p.1161_1162FD>FKKKGGD|KCNMA1_ENST00000406533.3_In_Frame_Ins_p.1182_1183FD>FKKKGGD|KCNMA1_ENST00000354353.5_In_Frame_Ins_p.1181_1182FD>FKKKGGD|KCNMA1_ENST00000372440.1_In_Frame_Ins_p.1120_1121FD>FKKKGGD|KCNMA1_ENST00000372443.1_In_Frame_Ins_p.1147_1148FD>FKKKGGD	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1178					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GCATTGTGGTCAAACTGCATTA	0.569													False	0	True	10:78647200	0	CCCCCCTTTTTTTTT	78647201	-	CCCCCCTTTTTTTTT	78647200	7	5	92	1	0	1	1	0	0	0	0	0	8123	826	29	0	208	0	KCNMA1	10	78647200	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	8116062	78647200	56887547	172	29157											
PAPSS2	9060	broad.mit.edu	37	chr10	89501117	89501118	+	Frame_Shift_Ins	INS	-	-	CATTGTT													tcaaacagaaatgtaaagaaINSatgaatgctggtatgtaaac							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:89501117_89501118insCATTGTT	ENST00000361175.4	+	9	1566_1567	c.1197_1198insCATTGTT	c.(1198-1200)atgfs	p.M400fs	PAPSS2_ENST00000427144.2_Frame_Shift_Ins_p.M404fs|PAPSS2_ENST00000456849.1_Frame_Shift_Ins_p.M405fs	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	400					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AATGTAAAGAAATGAATGCTGG	0.426													False	0	True	10:89501117	0	CATTGTT	89501118	-	CATTGTT	89501117	7	5	92	1	0	1	1	0	0	0	0	0	11503	11	1	0	1250	0	PAPSS2	10	89501117	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	10853917	89501117	46033630	173	29158											
PKD2L1	9033	broad.mit.edu	37	chr10	102057321	102057336	+	Frame_Shift_Del	DEL	GTGGGAGAAGCCCCCC	GTGGGAGAAGCCCCCC	-													tagcttgtgagcctgccccaGtgggagaagccccccaactc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GTGGGAGAAGCCCCCC	GTGGGAGAAGCCCCCC	-	-	GTGGGAGAAGCCCCCC	GTGGGAGAAGCCCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:102057321_102057336delGTGGGAGAAGCCCCCC	ENST00000318222.3	-	5	1141_1156	c.759_774delGGGGGGCTTCTCCCAC	c.(757-774)ttggggggcttctcccacfs	p.LGGFSH253fs	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Frame_Shift_Del_p.LGGFSH253fs	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	253					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.G255fs*64(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GCCTGCCCCAGTGGGAGAAGCCCCCCAACTCATCCT	0.583													False	1	False	10:102057321	0	-	102057336	GTGGGAGAAGCCCCCC	-	102057321	7	5	92	1	0	1	0	1	0	0	0	0	12036	1020	36	0	1691	0	PKD2L1	10	102057321	Frame_Shift_Del	DEL	GTGGGAGAAGCCCCCC	TCGA-IB-7887-01A-11D-2154-08	12556204	102057321	33477426	174	29159											
XPNPEP1	7511	broad.mit.edu	37	chr10	111637623	111637624	+	Frame_Shift_Ins	INS	-	-	GA													gtccacaaagtctgcctgttINSgcctgtaacagaaagacaga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:111637623_111637624insGA	ENST00000502935.1	-	14	1362_1363	c.1243_1244insTC	c.(1243-1245)caafs	p.Q415fs	XPNPEP1_ENST00000369680.4_Frame_Shift_Ins_p.Q372fs|XPNPEP1_ENST00000369683.1_Frame_Shift_Ins_p.Q301fs|XPNPEP1_ENST00000322238.8_Frame_Shift_Ins_p.Q415fs			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	372					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GTCTGCCTGTTGCCTGTAACAG	0.5													False	0	True	10:111637623	0	GA	111637624	-	GA	111637623	7	5	92	1	0	1	1	0	0	0	0	0	17526	1812	63	0	788	0	XPNPEP1	10	111637623	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	9580302	111637623	23897124	175	29160											
DCHS1	8642	broad.mit.edu	37	chr11	6662161	6662161	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggggggtgaaccaccatcAtaggcctccagctgtagcat	13	12	1	1			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:6662161A>C	ENST00000299441.3	-	2	1095	c.684T>G	c.(682-684)taT>taG	p.Y228*		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	228	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCACCATCATAGGCCTCCA	0.602													False	0	False	11:6662161	0	C	6662161	A	C	6662161	4	2	92	1	0	0	0	0	0	1	0	0	4312	224	8	4	9292	4	DCHS1	11	6662161	Nonsense_Mutation	SNP	A	TCGA-IB-7887-01A-11D-2154-08		6662161	128344355	176	29161											
ST5	6764	broad.mit.edu	37	chr11	8717060	8717061	+	In_Frame_Ins	INS	-	-	ATACTGGGG													ctgctcagtgtctgggagttINScttctaagtactgctccact							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:8717060_8717061insATACTGGGG	ENST00000526099.1	-	16	1969_1970	c.1867_1868insCCCCAGTAT	c.(1867-1869)gaa>gCCCCAGTATaa	p.623_623E>APV*	RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000313726.6_In_Frame_Ins_p.1110_1110E>APV*|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_In_Frame_Ins_p.301_301E>APV*|ST5_ENST00000530991.1_In_Frame_Ins_p.582_582E>APV*|ST5_ENST00000357665.1_In_Frame_Ins_p.1110_1110E>APV*|ST5_ENST00000534127.1_In_Frame_Ins_p.1110_1110E>APV*|ST5_ENST00000526757.1_In_Frame_Ins_p.690_690E>APV*|ST5_ENST00000530438.1_In_Frame_Ins_p.690_690E>APV*			P78524	ST5_HUMAN	suppression of tumorigenicity 5	1110					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GTCTGGGAGTTCTTCTAAGTAC	0.485													False	0	False	11:8717060	0	ATACTGGGG	8717061	-	ATACTGGGG	8717060	7	5	92	1	0	1	1	0	0	0	0	0	15302	1783	62	0	92	0	ST5	11	8717060	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2054899	8717060	126289456	177	29162											
ST5	6764	broad.mit.edu	37	chr11	8752684	8752685	+	Frame_Shift_Ins	INS	-	-	A													ggtacctgcaggctgaggttINStcactatcactgagcgggta							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:8752684_8752685insA	ENST00000534127.1	-	6	537_538	c.152_153insT	c.(151-153)gaafs	p.E51fs	ST5_ENST00000313726.6_Frame_Shift_Ins_p.E51fs|ST5_ENST00000357665.1_Frame_Shift_Ins_p.E51fs|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	51	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGGCTGAGGTTTCACTATCACT	0.584													False	0	True	11:8752684	0	A	8752685	-	A	8752684	7	5	92	1	0	1	1	0	0	0	0	0	15302	1838	64	0	3332	0	ST5	11	8752684	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	35624	8752684	126253832	178	29163	344	2									
ST5	6764	broad.mit.edu	37	chr11	8752685	8752686	+	Frame_Shift_Ins	INS	-	-	TTGGA													gtacctgcaggctgaggtttINScactatcactgagcgggtag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:8752685_8752686insTTGGA	ENST00000534127.1	-	6	536_537	c.151_152insTCCAA	c.(151-153)gaafs	p.E51fs	ST5_ENST00000313726.6_Frame_Shift_Ins_p.E51fs|ST5_ENST00000357665.1_Frame_Shift_Ins_p.E51fs|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	51	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCTGAGGTTTCACTATCACTG	0.579													False	0	True	11:8752685	0	TTGGA	8752686	-	TTGGA	8752685	7	5	92	1	0	1	1	0	0	0	0	0	15302	1783	62	0	3333	0	ST5	11	8752685	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	8752685	126253831	179	29164	344	2									
USP47	55031	broad.mit.edu	37	chr11	11974420	11974421	+	Splice_Site	INS	-	-	CATCATTCTATTTCCTCTG													gacgaattgcgagagaaggtINSaagttcattttaaacaaaac							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:11974420_11974421insCATCATTCTATTTCCTCTG	ENST00000339865.5	+	24	4273		c.e24+2		USP47_ENST00000539466.1_Splice_Site|USP47_ENST00000527733.1_Splice_Site|USP47_ENST00000305481.6_Splice_Site|USP47_ENST00000399455.2_Splice_Site	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47						base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CGAGAGAAGGTAAGTTCATTTT	0.342													False	0	False	11:11974420	0	CATCATTCTATTTCCTCTG	11974421	-	CATCATTCTATTTCCTCTG	11974420	8	5	92	1	0	1	1	0	0	0	1	0	17162	1652	57	0	3606	0	USP47	11	11974420	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	3221735	11974420	123032096	180	29165											
DNAJC24	120526	broad.mit.edu	37	chr11	31451923	31451924	+	Frame_Shift_Ins	INS	-	-	ACCC													tgtgatacatgttcactaatINStatagaactccttcattata							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:31451923_31451924insACCC	ENST00000465995.1	+	5	531_532	c.425_426insACCC	c.(424-429)attatafs	p.I143fs		NM_181706.4	NP_859057.4	Q6P3W2	DJC24_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 24	142					protein folding		heat shock protein binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						TGTTCACTAATTATAGAACTCC	0.366													False	0	False	11:31451923	0	ACCC	31451924	-	ACCC	31451923	7	5	92	1	0	1	1	0	0	0	0	0	4672	1493	52	0	439	0	DNAJC24	11	31451923	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	19477503	31451923	103554593	181	29166	345	2									
DNAJC24	120526	broad.mit.edu	37	chr11	31451924	31451925	+	Frame_Shift_Ins	INS	-	-	TAAAAGGTGCAGAGTTTATTCC													gtgatacatgttcactaattINSatagaactccttcattataa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:31451924_31451925insTAAAAGGTGCAGAGTTTATTCC	ENST00000465995.1	+	5	532_533	c.426_427insTAAAAGGTGCAGAGTTTATTCC	c.(427-429)atafs	p.I143fs		NM_181706.4	NP_859057.4	Q6P3W2	DJC24_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 24	142					protein folding		heat shock protein binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						GTTCACTAATTATAGAACTCCT	0.366													False	0	False	11:31451924	0	TAAAAGGTGCAGAGTTTATTCC	31451925	-	TAAAAGGTGCAGAGTTTATTCC	31451924	7	5	92	1	0	1	1	0	0	0	0	0	4672	1742	61	0	440	0	DNAJC24	11	31451924	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	31451924	103554592	182	29167	345	2									
NXF1	10482	broad.mit.edu	37	chr11	62564003	62564004	+	Frame_Shift_Ins	INS	-	-	AGCTTAG													catggtaggcatccaggagcINSccttgtcggtctccagagtc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:62564003_62564004insAGCTTAG	ENST00000532297.1	-	15	1843_1844	c.1214_1215insCTAAGCT	c.(1213-1215)gggfs	p.-405fs	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Frame_Shift_Ins_p.-405fs			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1						gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATCCAGGAGCCCTTGTCGGTC	0.51													False	0	True	11:62564003	0	AGCTTAG	62564004	-	AGCTTAG	62564003	7	5	92	1	0	1	1	0	0	0	0	0	10850	726	26	0	676	0	NXF1	11	62564003	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	31112079	62564003	72442513	183	29168											
PELI3	246330	broad.mit.edu	37	chr11	66236318	66236319	+	Frame_Shift_Ins	INS	-	-	GATTATT													caaagatgctgtgaggaaggINSaggtgaggaaaccgaggctc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:66236318_66236319insGATTATT	ENST00000320740.7	+	3	327_328	c.167_168insGATTATT	c.(166-171)ggaggtfs	p.G57fs	PELI3_ENST00000349459.6_Intron|PELI3_ENST00000524466.1_Frame_Shift_Ins_p.G57fs|PELI3_ENST00000531856.1_Intron	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	57						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						tgtgaggaaggaggtgaggaaa	0.53													False	0	True	11:66236318	0	GATTATT	66236319	-	GATTATT	66236318	7	5	92	1	0	1	1	0	0	0	0	0	11791	1174	41	0	173	0	PELI3	11	66236318	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	3672315	66236318	68770198	184	29169											
CCDC83	220047	broad.mit.edu	37	chr11	85627207	85627208	+	Frame_Shift_Ins	INS	-	-	TTAATTATGTATACATTTTGAACATATAC													tgaagatagataaagaggaaINSaactcaggcacagagtttgg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:85627207_85627208insTTAATTATGTATACATTTTGAACATATAC	ENST00000280245.4	+	11	1616_1617	c.1104_1105insTTAATTATGTATACATTTTGAACATATAC	c.(1105-1107)aacfs	p.N369fs	CCDC83_ENST00000376067.1_Frame_Shift_Ins_p.N238fs|CCDC83_ENST00000342404.3_Frame_Shift_Ins_p.N338fs	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	338										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATAAAGAGGAAAACTCAGGCAC	0.376													False	0	True	11:85627207	0	TTAATTATGTATACATTTTGAACATATAC	85627208	-	TTAATTATGTATACATTTTGAACATATAC	85627207	7	5	92	1	0	1	1	0	0	0	0	0	2878	11	1	0	1142	0	CCDC83	11	85627207	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	19390889	85627207	49379309	185	29170											
ANKRD49	54851	broad.mit.edu	37	chr11	94230103	94230104	+	In_Frame_Ins	INS	-	-	GTATTCCAT													cagattgcttctttgggctgINSctgaaaaaaatcgggtaaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:94230103_94230104insGTATTCCAT	ENST00000544253.1	+	2	362_363	c.244_245insGTATTCCAT	c.(244-246)gct>gGTATTCCATct	p.82_82A>GIPS	ANKRD49_ENST00000540349.1_In_Frame_Ins_p.82_82A>GIPS|ANKRD49_ENST00000544612.1_In_Frame_Ins_p.82_82A>GIPS|ANKRD49_ENST00000302755.4_In_Frame_Ins_p.82_82A>GIPS			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	82					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTTTGGGCTGCTGAAAAAAAT	0.396													False	0	False	11:94230103	0	GTATTCCAT	94230104	-	GTATTCCAT	94230103	7	5	92	1	0	1	1	0	0	0	0	0	675	1319	46	0	246	0	ANKRD49	11	94230103	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	8602896	94230103	40776413	186	29171											
OR6T1	219874	broad.mit.edu	37	chr11	123813849	123813850	+	In_Frame_Ins	INS	-	-	TCCGCAATGACA													gaaaacgctttccttcgctcINSagcagctgtaggggccctga					rs76651236	by1000genomes	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:123813849_123813850insTCCGCAATGACA	ENST00000321252.2	-	1	730_731	c.696_697insTGTCATTGCGGA	c.(694-699)gctgag>gctTGTCATTGCGGAgag	p.232_233AE>ACHCGE		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A232A(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTCCTTCGCTCAGCAGCTGTAG	0.51													False	0	False	11:123813849	0	TCCGCAATGACA	123813850	-	TCCGCAATGACA	123813849	7	5	92	1	0	1	1	0	0	0	0	0	11278	835	29	0	277	0	OR6T1	11	123813849	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	29583746	123813849	11192667	187	29172											
WNK1	65125	broad.mit.edu	37	chr12	970306	970307	+	Frame_Shift_Ins	INS	-	-	G													gaggagcaagaaaaaaaaaaINSgcaggaagagagcagtctca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:970306_970307insG	ENST00000315939.6	+	7	2391_2392	c.1748_1749insG	c.(1747-1752)aagcagfs	p.Q584fs	WNK1_ENST00000340908.4_Frame_Shift_Ins_p.Q177fs|WNK1_ENST00000537687.1_Frame_Shift_Ins_p.Q584fs|WNK1_ENST00000530271.2_Frame_Shift_Ins_p.Q584fs|WNK1_ENST00000535572.1_Frame_Shift_Ins_p.Q584fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	584					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.K583N(2)|p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAAAAAAAAAAGCAGGAAGAGA	0.47													False	1	True	12:970306	0	G	970307	-	G	970306	7	5	92	1	0	1	1	0	0	0	0	0	17461	72	3	0	1774	0	WNK1	12	970306	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08		970306	132881589	188	29173	346	2									
WNK1	65125	broad.mit.edu	37	chr12	970308	970309	+	In_Frame_Ins	INS	-	-	ATTGTAAAAAAAGTAGAGAAG													ggagcaagaaaaaaaaaagcINSaggaagagagcagtctcaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:970308_970309insATTGTAAAAAAAGTAGAGAAG	ENST00000315939.6	+	7	2393_2394	c.1750_1751insATTGTAAAAAAAGTAGAGAAG	c.(1750-1752)cag>cATTGTAAAAAAAGTAGAGAAGag	p.584_584Q>HCKKSREE	WNK1_ENST00000340908.4_In_Frame_Ins_p.177_177Q>HCKKSREE|WNK1_ENST00000537687.1_In_Frame_Ins_p.584_584Q>HCKKSREE|WNK1_ENST00000530271.2_In_Frame_Ins_p.584_584Q>HCKKSREE|WNK1_ENST00000535572.1_In_Frame_Ins_p.584_584Q>HCKKSREE	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	584					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAAAAAAAAGCAGGAAGAGAGC	0.47													False	0	False	12:970308	0	ATTGTAAAAAAAGTAGAGAAG	970309	-	ATTGTAAAAAAAGTAGAGAAG	970308	7	5	92	1	0	1	1	0	0	0	0	0	17461	711	25	0	1776	0	WNK1	12	970308	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	970308	132881587	189	29174	346	2									
FOXJ2	55810	broad.mit.edu	37	chr12	8205432	8205432	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccctgatgacttcgactggGacttgatcacttagtgcatc	9	11	1	3			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:8205432G>C	ENST00000162391.3	+	11	2856	c.1711G>C	c.(1711-1713)Gac>Cac	p.D571H	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	571					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTTCGACTGGGACTTGATCAC	0.552													False	0	True	12:8205432	0	C	8205432	G	C	8205432	3	2	92	1	0	0	0	0	1	0	0	0	6054	1174	41	5	1749	5	FOXJ2	12	8205432	Missense_Mutation	SNP	G	TCGA-IB-7887-01A-11D-2154-08	7235124	8205432	125646463	190	29175											
TAS2R7	50837	broad.mit.edu	37	chr12	10954459	10954460	+	Frame_Shift_Ins	INS	-	-	TCTATTCTAA													agaggagaaggaaggaaatgINSacagctttcagggctctcac							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:10954459_10954460insTCTATTCTAA	ENST00000240687.2	-	1	766_767	c.710_711insTTAGAATAGA	c.(709-711)gtcfs	p.-237fs		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7						sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GGAAGGAAATGACAGCTTTCAG	0.5													False	0	False	12:10954459	0	TCTATTCTAA	10954460	-	TCTATTCTAA	10954459	7	5	92	1	0	1	1	0	0	0	0	0	15668	1277	45	0	249	0	TAS2R7	12	10954459	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2749027	10954459	122897436	191	29176											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	92	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-IB-7887-01A-11D-2154-08	14443826	25398285	108453610	192	29177											
AQP6	363	broad.mit.edu	37	chr12	50369430	50369431	+	In_Frame_Ins	INS	-	-	CCACAG													aatcccagccgggttcgggaINSgccgtggagatggagagtgt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:50369430_50369431insCCACAG	ENST00000551733.1	+	6	801_802	c.303_304insCCACAG	c.(304-306)gcc>CCACAGgcc	p.101_102insPQ	AQP6_ENST00000315520.5_In_Frame_Ins_p.275_276insPQ			Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	275					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CGGGTTCGGGAGCCGTGGAGAT	0.683													False	0	False	12:50369430	0	CCACAG	50369431	-	CCACAG	50369430	7	5	92	1	0	1	1	0	0	0	0	0	832	291	11	0	839	0	AQP6	12	50369430	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	24971145	50369430	83482465	193	29178											
KRT82	3888	broad.mit.edu	37	chr12	52788940	52788941	+	Frame_Shift_Ins	INS	-	-	CTCCCTTT													gacaggcgtgctgaccccacINSatggctcgtacaggaaggcg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:52788940_52788941insCTCCCTTT	ENST00000257974.2	-	9	1437_1438	c.1360_1361insAAAGGGAG	c.(1360-1362)tgtfs	p.C454fs	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	454	Tail.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GCTGACCCCACATGGCTCGTAC	0.639													False	0	False	12:52788940	0	CTCCCTTT	52788941	-	CTCCCTTT	52788940	7	5	92	1	0	1	1	0	0	0	0	0	8546	478	17	0	184	0	KRT82	12	52788940	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2419510	52788940	81062955	194	29179											
SMARCC2	6601	broad.mit.edu	37	chr12	56572288	56572289	+	Frame_Shift_Ins	INS	-	-	T													ggattcttggtctgctctccINScttgttccccgtactgttct							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:56572288_56572289insT	ENST00000394023.3	-	14	1314_1315	c.1209_1210insA	c.(1207-1212)aagggafs	p.G404fs	SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.G404fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.G404fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.G404fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	404					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTCTGCTCTCCCTTGTTCCCCG	0.525													False	0	True	12:56572288	0	T	56572289	-	T	56572288	7	5	92	1	0	1	1	0	0	0	0	0	14856	632	22	0	2591	0	SMARCC2	12	56572288	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	3783348	56572288	77279607	195	29180	347	2									
SMARCC2	6601	broad.mit.edu	37	chr12	56572289	56572290	+	In_Frame_Ins	INS	-	-	CAAATAAGTTAT													gattcttggtctgctctcccINSttgttccccgtactgttctc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:56572289_56572290insCAAATAAGTTAT	ENST00000394023.3	-	14	1313_1314	c.1208_1209insATAACTTATTTG	c.(1207-1209)aag>aaATAACTTATTTGg	p.403_404ins*LIW	SMARCC2_ENST00000550164.1_In_Frame_Ins_p.403_404ins*LIW|SMARCC2_ENST00000267064.4_In_Frame_Ins_p.403_404ins*LIW|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_In_Frame_Ins_p.403_404ins*LIW	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	403					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTGCTCTCCCTTGTTCCCCGT	0.525													False	0	True	12:56572289	0	CAAATAAGTTAT	56572290	-	CAAATAAGTTAT	56572289	7	5	92	1	0	1	1	0	0	0	0	0	14856	680	24	0	2592	0	SMARCC2	12	56572289	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	56572289	77279606	196	29181	347	2									
SMARCC2	6601	broad.mit.edu	37	chr12	56574867	56574868	+	Frame_Shift_Ins	INS	-	-	AATTTAGCTGGTTATTGGAATTACG													tgtggccacgctttgacttaINSgtgtaaggtgttgagggact							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:56574867_56574868insAATTTAGCTGGTTATTGGAATTACG	ENST00000394023.3	-	11	1079_1080	c.974_975insCGTAATTCCAATAACCAGCTAAATT	c.(973-975)actfs	p.-325fs	SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.-325fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.-325fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.-325fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2						chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCTTTGACTTAGTGTAAGGTGT	0.51													False	0	False	12:56574867	0	AATTTAGCTGGTTATTGGAATTACG	56574868	-	AATTTAGCTGGTTATTGGAATTACG	56574867	7	5	92	1	0	1	1	0	0	0	0	0	14856	407	15	0	2838	0	SMARCC2	12	56574867	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2578	56574867	77277028	197	29182											
NDUFA4L2	56901	broad.mit.edu	37	chr12	57630863	57630864	+	Frame_Shift_Ins	INS	-	-	ATTCTTCCCCTAAG													gggccccaagactggctcctINSgccatatcgttgttttccca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:57630863_57630864insATTCTTCCCCTAAG	ENST00000554503.1	-	1	257_258	c.5_6insCTTAGGGGAAGAAT	c.(4-6)gcafs	p.-2fs	NDUFA4L2_ENST00000556732.1_Frame_Shift_Ins_p.-2fs|NDUFA4L2_ENST00000393825.1_Frame_Shift_Ins_p.-2fs			Q9NRX3	NUA4L_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2											lung(1)|prostate(1)	2					NADH(DB00157)	GACTGGCTCCTGCCATATCGTT	0.609													False	0	False	12:57630863	0	ATTCTTCCCCTAAG	57630864	-	ATTCTTCCCCTAAG	57630863	7	5	92	1	0	1	1	0	0	0	0	0	10335	1567	55	0	273	0	NDUFA4L2	12	57630863	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1055996	57630863	76221032	198	29183											
IL22	50616	broad.mit.edu	37	chr12	68647271	68647272	+	Translation_Start_Site	INS	-	-	GTATACATCTC													actggtgactggggaaggagINSaacctggtcgaagacaacgt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:68647271_68647272insGTATACATCTC	ENST00000538666.1	-	0	27_28				IL22_ENST00000328087.4_De_novo_Start_OutOfFrame			Q9GZX6	IL22_HUMAN	interleukin 22						acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		TGGGGAAGGAGAACCTGGTCGA	0.47													False	0	False	12:68647271	0	GTATACATCTC	68647272	-	GTATACATCTC	68647271	6	5	92	1	0	1	1	0	0	0	0	0	7722	957	33	0		0	IL22	12	68647271	Translation_Start_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	11016408	68647271	65204624	199	29184											
GIT2	9815	broad.mit.edu	37	chr12	110385123	110385124	+	Frame_Shift_Ins	INS	-	-	ACTAA													cggctcgcttctcccattggINSgagatatggtttctgacctg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:110385123_110385124insACTAA	ENST00000355312.3	-	15	1577_1578	c.1578_1579insTTAGT	c.(1576-1581)ctcccafs	p.P527fs	GIT2_ENST00000354574.4_Frame_Shift_Ins_p.P479fs|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000457474.2_Frame_Shift_Ins_p.P479fs|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000551209.1_Frame_Shift_Ins_p.P476fs|GIT2_ENST00000360185.4_Frame_Shift_Ins_p.P477fs|GIT2_ENST00000343646.5_Frame_Shift_Ins_p.P447fs|GIT2_ENST00000361006.5_Frame_Shift_Ins_p.P527fs	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	527					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TCTCCCATTGGGAGATATGGTT	0.569													False	0	True	12:110385123	0	ACTAA	110385124	-	ACTAA	110385123	7	5	92	1	0	1	1	0	0	0	0	0	6442	1232	43	0	724	0	GIT2	12	110385123	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	41737852	110385123	23466772	200	29185											
TMEM132B	114795	broad.mit.edu	37	chr12	126138392	126138393	+	In_Frame_Ins	INS	-	-	TCACTGAAC													tcaaggtcaaattcgaaccaINSagtagtgatgagcaccaagg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:126138392_126138393insTCACTGAAC	ENST00000299308.3	+	9	2381_2382	c.2373_2374insTCACTGAAC	c.(2374-2376)agt>TCACTGAACagt	p.792_792S>SLNS	TMEM132B_ENST00000535886.1_In_Frame_Ins_p.304_304S>SLNS	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	792						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AATTCGAACCAAGTAGTGATGA	0.426													False	0	False	12:126138392	0	TCACTGAAC	126138393	-	TCACTGAAC	126138392	7	5	92	1	0	1	1	0	0	0	0	0	16128	117	5	0	2407	0	TMEM132B	12	126138392	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	15753269	126138392	7713503	201	29186											
SACS	26278	broad.mit.edu	37	chr13	23906194	23906194	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagatcaactaacatttGcacaccaatattcccctgga	6	12	1	1			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:23906194G>A	ENST00000382298.3	-	10	12409	c.11821C>T	c.(11821-11823)Caa>Taa	p.Q3941*	SACS_ENST00000402364.1_Nonsense_Mutation_p.Q3191*|SACS_ENST00000382292.3_Nonsense_Mutation_p.Q3941*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3941					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACTAACATTTGCACACCAATA	0.403													False	0	True	13:23906194	0	A	23906194	G	A	23906194	4	1	92	1	0	0	0	0	0	1	0	0	13883	1328	46	2	1922	2	SACS	13	23906194	Nonsense_Mutation	SNP	G	TCGA-IB-7887-01A-11D-2154-08		23906194	91263684	202	29187											
MIPEP	4285	broad.mit.edu	37	chr13	24444305	24444306	+	In_Frame_Ins	INS	-	-	CAGTGATAA													tactactcaaatccaagattINSttaacattgaggtccactgc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:24444305_24444306insCAGTGATAA	ENST00000382172.3	-	6	730_731	c.632_633insTTATCACTG	c.(631-633)aaa>aaTTATCACTGa	p.211_211K>NYH*		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	211					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AATCCAAGATTTTAACATTGAG	0.332													False	0	True	13:24444305	0	CAGTGATAA	24444306	-	CAGTGATAA	24444305	7	5	92	1	0	1	1	0	0	0	0	0	9659	1838	64	0	1564	0	MIPEP	13	24444305	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	538111	24444305	90725573	203	29188											
KBTBD7	84078	broad.mit.edu	37	chr13	41767920	41767921	+	Frame_Shift_Ins	INS	-	-	GCAGAAG													ctaagaaggaggcacaggctINStcccgcacatattccagctg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:41767920_41767921insGCAGAAG	ENST00000379483.3	-	1	781_782	c.473_474insCTTCTGC	c.(472-474)gaafs	p.E158fs		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	158							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGGCACAGGCTTCCCGCACATA	0.574													False	0	True	13:41767920	0	GCAGAAG	41767921	-	GCAGAAG	41767920	7	5	92	1	0	1	1	0	0	0	0	0	8048	1606	56	0	1584	0	KBTBD7	13	41767920	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	17323615	41767920	73401958	204	29189											
POTEG	404785	broad.mit.edu	37	chr14	19553582	19553582	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgacgattctgctatgaagAcactcaggagcaagatgggc	12	9	2	3			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:19553582A>T	ENST00000409832.3	+	1	218	c.166A>T	c.(166-168)Aca>Tca	p.T56S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	56										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTATGAAGACACTCAGGAG	0.617													False	0	False	14:19553582	0	T	19553582	A	T	19553582	3	4	92	1	0	0	0	0	1	0	0	0	12335	275	10	5	168	5	POTEG	14	19553582	Missense_Mutation	SNP	A	TCGA-IB-7887-01A-11D-2154-08		19553582	87795958	205	29190											
FAM179B	23116	broad.mit.edu	37	chr14	45473306	45473306	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtaagacacagcaaacatTtggtagtcaaacagagtgta	9	7	1	2			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:45473306T>C	ENST00000361462.2	+	4	2564	c.2381T>C	c.(2380-2382)tTt>tCt	p.F794S	FAM179B_ENST00000382233.2_Missense_Mutation_p.F794S|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.F794S			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	794							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CAGCAAACATTTGGTAGTCAA	0.363													False	0	True	14:45473306	0	C	45473306	T	C	45473306	3	2	92	1	0	0	0	0	1	0	0	0	5542	1841	64	4	2395	4	FAM179B	14	45473306	Missense_Mutation	SNP	T	TCGA-IB-7887-01A-11D-2154-08	25919724	45473306	61876234	206	29191											
PYGL	5836	broad.mit.edu	37	chr14	51375640	51375641	+	Frame_Shift_Ins	INS	-	-	AAAACCAACAA													caatgaccagcttcagctctINSggaagtgcctcatagtattc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:51375640_51375641insAAAACCAACAA	ENST00000216392.7	-	18	2542_2543	c.2210_2211insTTGTTGGTTTT	c.(2209-2211)ccafs	p.-737fs	PYGL_ENST00000532462.1_Frame_Shift_Ins_p.-737fs|PYGL_ENST00000544180.2_Frame_Shift_Ins_p.-703fs	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver						glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GCTTCAGCTCTGGAAGTGCCTC	0.421													False	0	False	14:51375640	0	AAAACCAACAA	51375641	-	AAAACCAACAA	51375640	7	5	92	1	0	1	1	0	0	0	0	0	12940	1567	55	0	344	0	PYGL	14	51375640	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	5902334	51375640	55973900	207	29192											
ACTR10	55860	broad.mit.edu	37	chr14	58698916	58698917	+	In_Frame_Ins	INS	-	-	AAGGATTTATTCTGAACTGTA													aaaaccaaaatataaaaaagINScacttggcactaagacattt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:58698916_58698917insAAGGATTTATTCTGAACTGTA	ENST00000254286.4	+	12	1083_1084	c.1003_1004insAAGGATTTATTCTGAACTGTA	c.(1003-1005)gca>gAAGGATTTATTCTGAACTGTAca	p.335_335A>EGFILNCT	ACTR10_ENST00000554402.1_3'UTR	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	335						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						ATATAAAAAAGCACTTGGCACT	0.361													False	0	False	14:58698916	0	AAGGATTTATTCTGAACTGTA	58698917	-	AAGGATTTATTCTGAACTGTA	58698916	7	5	92	1	0	1	1	0	0	0	0	0	208	971	34	0	1049	0	ACTR10	14	58698916	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	7323276	58698916	48650624	208	29193	348	2									
ACTR10	55860	broad.mit.edu	37	chr14	58698918	58698919	+	Frame_Shift_Ins	INS	-	-	AATAATG													aaccaaaatataaaaaagcaINScttggcactaagacatttcg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:58698918_58698919insAATAATG	ENST00000254286.4	+	12	1085_1086	c.1005_1006insAATAATG	c.(1006-1008)cttfs	p.L336fs	ACTR10_ENST00000554402.1_3'UTR	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	336						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						ATAAAAAAGCACTTGGCACTAA	0.356													False	0	False	14:58698918	0	AATAATG	58698919	-	AATAATG	58698918	7	5	92	1	0	1	1	0	0	0	0	0	208	146	6	0	1051	0	ACTR10	14	58698918	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	58698918	48650622	209	29194	348	2									
KIAA0586	9786	broad.mit.edu	37	chr14	58934617	58934618	+	Frame_Shift_Ins	INS	-	-	GAAAAGTCTAATATACCATCTGGATCTTA													aatgaagtcagaaaaaaaggINSatcctcctcagcttactgtg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:58934617_58934618insGAAAAGTCTAATATACCATCTGGATCTTA	ENST00000423743.3	+	17	2545_2546	c.2287_2288insGAAAAGTCTAATATACCATCTGGATCTTA	c.(2287-2289)gatfs	p.D763fs	KIAA0586_ENST00000556134.1_Frame_Shift_Ins_p.D792fs|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Frame_Shift_Ins_p.D731fs|KIAA0586_ENST00000354386.6_Frame_Shift_Ins_p.D860fs	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	731										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAAAAAAAGGATCCTCCTCAG	0.361													False	0	False	14:58934617	0	GAAAAGTCTAATATACCATCTGGATCTTA	58934618	-	GAAAAGTCTAATATACCATCTGGATCTTA	58934617	7	5	92	1	0	1	1	0	0	0	0	0	8236	1174	41	0	2249	0	KIAA0586	14	58934617	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	235699	58934617	48414923	210	29195											
DAAM1	23002	broad.mit.edu	37	chr14	59834291	59834292	+	Frame_Shift_Ins	INS	-	-	TCAATGTTTCATGAGAATTCCACAATCAAATATAAAT													aaagaaaaaggaggaagaagINSaacgtcgagctcgcatggaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:59834291_59834292insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	ENST00000395125.1	+	24	3024_3025	c.3001_3002insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	c.(3001-3003)gaafs	p.E1001fs	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.E1001fs|DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.E991fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1001	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GGAGGAAGAAGAACGTCGAGCT	0.411													False	0	True	14:59834291	0	TCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	59834292	-	TCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	59834291	7	5	92	1	0	1	1	0	0	0	0	0	4240	943	33	0	3095	0	DAAM1	14	59834291	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	899674	59834291	47515249	211	29196											
ZFYVE26	23503	broad.mit.edu	37	chr14	68251142	68251143	+	Frame_Shift_Ins	INS	-	-	TGAATTTTTTATTCTTATATAA													aagggatttcctaccttgacINSctccacatgatctgcaaagg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:68251142_68251143insTGAATTTTTTATTCTTATATAA	ENST00000347230.4	-	20	3672_3673	c.3534_3535insTTATATAAGAATAAAAAATTCA	c.(3532-3537)gaggtcfs	p.V1179fs	ZFYVE26_ENST00000555452.1_Frame_Shift_Ins_p.V1179fs	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1179					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCTACCTTGACCTCCACATGAT	0.47													False	0	False	14:68251142	0	TGAATTTTTTATTCTTATATAA	68251143	-	TGAATTTTTTATTCTTATATAA	68251142	7	5	92	1	0	1	1	0	0	0	0	0	17751	507	18	0	4176	0	ZFYVE26	14	68251142	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	8416851	68251142	39098398	212	29197											
EML1	2009	broad.mit.edu	37	chr14	100363601	100363602	+	Frame_Shift_Ins	INS	-	-	ATAAAATACCATATAAC													gaggagcaactgcagaggcaINSttacgctggccacaacgatg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:100363601_100363602insATAAAATACCATATAAC	ENST00000262233.6	+	7	936_937	c.797_798insATAAAATACCATATAAC	c.(796-801)cattacfs	p.HY266fs	EML1_ENST00000334192.4_Frame_Shift_Ins_p.HY285fs|EML1_ENST00000327921.9_Frame_Shift_Ins_p.HY254fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	266						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CTGCAGAGGCATTACGCTGGCC	0.54													False	0	False	14:100363601	0	ATAAAATACCATATAAC	100363602	-	ATAAAATACCATATAAC	100363601	7	5	92	1	0	1	1	0	0	0	0	0	5128	217	8	0	884	0	EML1	14	100363601	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	32112459	100363601	6985939	213	29198											
EML1	2009	broad.mit.edu	37	chr14	100377875	100377876	+	In_Frame_Ins	INS	-	-	TCTAATCTCATCTGA													gaaagaccgaaagctcatttINScttggagcggaaactatcaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:100377875_100377876insTCTAATCTCATCTGA	ENST00000262233.6	+	13	1595_1596	c.1456_1457insTCTAATCTCATCTGA	c.(1456-1458)tct>tTCTAATCTCATCTGAct	p.486_486S>F*SHLT	EML1_ENST00000334192.4_In_Frame_Ins_p.505_505S>F*SHLT|EML1_ENST00000327921.9_In_Frame_Ins_p.474_474S>F*SHLT	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	486						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AAAGCTCATTTCTTGGAGCGGA	0.416													False	0	True	14:100377875	0	TCTAATCTCATCTGA	100377876	-	TCTAATCTCATCTGA	100377875	7	5	92	1	0	1	1	0	0	0	0	0	5128	1783	62	0	1567	0	EML1	14	100377875	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	14274	100377875	6971665	214	29199											
DYNC1H1	1778	broad.mit.edu	37	chr14	102476730	102476731	+	In_Frame_Ins	INS	-	-	CTATCTTTAATAACA													gaatccagaagataaagaggINSgagaaagaggaacgagggga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:102476730_102476731insCTATCTTTAATAACA	ENST00000360184.4	+	31	6503_6504	c.6339_6340insCTATCTTTAATAACA	c.(6340-6342)gag>CTATCTTTAATAACAgag	p.2113_2114insLSLIT		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2113					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGATAAAGAGGGAGAAAGAGGA	0.446													False	0	True	14:102476730	0	CTATCTTTAATAACA	102476731	-	CTATCTTTAATAACA	102476730	7	5	92	1	0	1	1	0	0	0	0	0	4871	1223	43	0	6461	0	DYNC1H1	14	102476730	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2098855	102476730	4872810	215	29200	349	2									
DYNC1H1	1778	broad.mit.edu	37	chr14	102476731	102476732	+	In_Frame_Ins	INS	-	-	TATACTTTA													aatccagaagataaagagggINSagaaagaggaacgaggggaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:102476731_102476732insTATACTTTA	ENST00000360184.4	+	31	6504_6505	c.6340_6341insTATACTTTA	c.(6340-6342)gag>gTATACTTTAag	p.2114_2114E>VYFK		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2114					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GATAAAGAGGGAGAAAGAGGAA	0.446													False	0	True	14:102476731	0	TATACTTTA	102476732	-	TATACTTTA	102476731	7	5	92	1	0	1	1	0	0	0	0	0	4871	1175	41	0	6462	0	DYNC1H1	14	102476731	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	102476731	4872809	216	29201	349	2									
C14orf79	122616	broad.mit.edu	37	chr14	105455328	105455329	+	Translation_Start_Site	INS	-	-	TTGTGATAGAAATGAAATTTGTAATTGAT													gtgtgcttttcaagaaataaINScagtccagcaggcagctgaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:105455328_105455329insTTGTGATAGAAATGAAATTTGTAATTGAT	ENST00000550614.1	+	0	28_29				C14orf79_ENST00000547315.1_Frame_Shift_Ins_p.T158fs|C14orf79_ENST00000549584.1_3'UTR			Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79											breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TCAAGAAATAACAGTCCAGCAG	0.376													False	0	False	14:105455328	0	TTGTGATAGAAATGAAATTTGTAATTGAT	105455329	-	TTGTGATAGAAATGAAATTTGTAATTGAT	105455328	6	5	92	1	0	1	1	0	0	0	0	0	1789	43	2	0		0	C14orf79	14	105455328	Translation_Start_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	2978597	105455328	1894212	217	29202											
RYR3	6263	broad.mit.edu	37	chr15	34130706	34130707	+	Frame_Shift_Ins	INS	-	-	GTGTCCTC													acaggaacgtgaaaaagatgINSactgcgaaggagctggtgaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:34130706_34130707insGTGTCCTC	ENST00000389232.4	+	89	12595_12596	c.12525_12526insGTGTCCTC	c.(12526-12528)actfs	p.T4176fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.T4171fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4176					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAAAAAGATGACTGCGAAGGA	0.5													False	0	False	15:34130706	0	GTGTCCTC	34130707	-	GTGTCCTC	34130706	7	5	92	1	0	1	1	0	0	0	0	0	13849	1290	45	0	12879	0	RYR3	15	34130706	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08		34130706	68400686	218	29203											
HERC1	8925	broad.mit.edu	37	chr15	64021813	64021814	+	Frame_Shift_Ins	INS	-	-	GGAACTTTTTT													atgttccaagtagaaatttaINStcactattcttttctagctc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:64021813_64021814insGGAACTTTTTT	ENST00000443617.2	-	15	2990_2991	c.2903_2904insAAAAAAGTTCC	c.(2902-2904)gatfs	p.D968fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	968					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTAGAAATTTATCACTATTCTT	0.366													False	0	False	15:64021813	0	GGAACTTTTTT	64021814	-	GGAACTTTTTT	64021813	7	5	92	1	0	1	1	0	0	0	0	0	7104	446	16	0	11937	0	HERC1	15	64021813	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	29891107	64021813	38509579	219	29204											
CELF6	60677	broad.mit.edu	37	chr15	72580718	72580719	+	In_Frame_Ins	INS	-	-	TGATTTCCTGAGATT													acaacggctccaaagggcagINSgaatgtctgtatgagttccg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:72580718_72580719insTGATTTCCTGAGATT	ENST00000543764.2	-	9	1011_1012	c.837_838insAATCTCAGGAAATCA	c.(835-840)ttcctg>ttcAATCTCAGGAAATCActg	p.279_280FL>FNLRKSL	RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000539635.1_In_Frame_Ins_p.277_278FL>FNLRKSL|CELF6_ENST00000567083.1_In_Frame_Ins_p.389_390FL>FNLRKSL|CELF6_ENST00000395258.2_In_Frame_Ins_p.303_304FL>FNLRKSL|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000287202.5_In_Frame_Ins_p.416_417FL>FNLRKSL	NM_001172685.1	NP_001166156.1	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	416	Ala-rich.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CCAAAGGGCAGGAATGTCTGTA	0.53													False	0	False	15:72580718	0	TGATTTCCTGAGATT	72580719	-	TGATTTCCTGAGATT	72580718	7	5	92	1	0	1	1	0	0	0	0	0	3243	991	35	0	204	0	CELF6	15	72580718	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	8558905	72580718	29950674	220	29205											
HMOX2	3163	broad.mit.edu	37	chr16	4559693	4559698	+	In_Frame_Del	DEL	TCCAGT	TCCAGT	-													tgtgctgaggaagcccagccTccagttcatcctggccgctg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	TCCAGT	TCCAGT	-	-	TCCAGT	TCCAGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:4559693_4559698delTCCAGT	ENST00000570646.1	+	6	1492_1497	c.887_892delTCCAGT	c.(886-894)ctccagttc>ctc	p.QF297del	HMOX2_ENST00000458134.3_In_Frame_Del_p.QF297del|HMOX2_ENST00000414777.1_In_Frame_Del_p.QF297del|HMOX2_ENST00000406590.2_In_Frame_Del_p.QF297del|HMOX2_ENST00000575120.1_In_Frame_Del_p.QF268del|HMOX2_ENST00000398595.3_In_Frame_Del_p.QF297del|HMOX2_ENST00000219700.6_In_Frame_Del_p.QF297del	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	297					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	AAGCCCAGCCTCCAGTTCATCCTGGC	0.607													False	1	False	16:4559693	0	-	4559698	TCCAGT	-	4559693	7	5	92	1	0	1	0	1	0	0	0	0	7291	1551	54	0	905	0	HMOX2	16	4559693	In_Frame_Del	DEL	TCCAGT	TCGA-IB-7887-01A-11D-2154-08		4559693	85795060	221	29206											
USP7	7874	broad.mit.edu	37	chr16	9015098	9015099	+	Frame_Shift_Ins	INS	-	-	AGTCCTTTAT													gacgactgaacgacttttcaINStcatctctgtaatttattat							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:9015098_9015099insAGTCCTTTAT	ENST00000344836.4	-	4	635_636	c.437_438insATAAAGGACT	c.(436-438)gatfs	p.D146fs	USP7_ENST00000381886.4_Frame_Shift_Ins_p.D130fs|USP7_ENST00000535863.1_Frame_Shift_Ins_p.D47fs	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	146	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACGACTTTTCATCATCTCTGTA	0.356													False	0	False	16:9015098	0	AGTCCTTTAT	9015099	-	AGTCCTTTAT	9015098	7	5	92	1	0	1	1	0	0	0	0	0	17172	214	8	0	2982	0	USP7	16	9015098	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	4455405	9015098	81339655	222	29207											
DEXI	28955	broad.mit.edu	37	chr16	11035750	11035751	+	In_Frame_Ins	INS	-	-	ACC													ggcgtagtacaggatcagcaINScattgacgaagaacaggccc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:11035750_11035751insACC	ENST00000331808.4	-	1	566_567	c.112_113insGGT	c.(112-114)gtg>gGGTtg	p.38_38V>GL	RP11-876N24.4_ENST00000573379.1_RNA|DEXI_ENST00000469379.1_5'UTR	NM_014015.3	NP_054734.2	O95424	DEXI_HUMAN	Dexi homolog (mouse)	38										endometrium(2)|lung(1)	3						CAGGATCAGCACATTGACGAAG	0.653													False	0	False	16:11035750	0	ACC	11035751	-	ACC	11035750	7	5	92	1	0	1	1	0	0	0	0	0	4481	159	6	0	178	0	DEXI	16	11035750	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2020652	11035750	79319003	223	29208											
KIF22	3835	broad.mit.edu	37	chr16	29811016	29811036	+	In_Frame_Del	DEL	TAGACACAGTCTCCGCACTCA	TAGACACAGTCTCCGCACTCA	-													ccctgagagacgcttctaccTagacacagtctccgcactca					rs142042059	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	TAGACACAGTCTCCGCACTCA	TAGACACAGTCTCCGCACTCA	-	-	TAGACACAGTCTCCGCACTCA	TAGACACAGTCTCCGCACTCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:29811016_29811036delTAGACACAGTCTCCGCACTCA	ENST00000400751.5	+	7	1479_1499	c.854_874delTAGACACAGTCTCCGCACTCA	c.(853-876)ctagacacagtctccgcactcaac>cac	p.285_292LDTVSALN>H	KIF22_ENST00000561482.1_In_Frame_Del_p.285_292LDTVSALN>H|KIF22_ENST00000160827.4_In_Frame_Del_p.353_360LDTVSALN>H|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_In_Frame_Del_p.285_292LDTVSALN>H			Q14807	KIF22_HUMAN	kinesin family member 22	353	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CGCTTCTACCTAGACACAGTCTCCGCACTCAACTTTGCTGC	0.566													False	1	False	16:29811016	0	-	29811036	TAGACACAGTCTCCGCACTCA	-	29811016	7	5	92	1	0	1	0	1	0	0	0	0	8340	1522	53	0	1084	0	KIF22	16	29811016	In_Frame_Del	DEL	TAGACACAGTCTCCGCACTCA	TCGA-IB-7887-01A-11D-2154-08	18775266	29811016	60543737	224	29209											
ITGAM	3684	broad.mit.edu	37	chr16	31332934	31332935	+	Frame_Shift_Ins	INS	-	-	CCTTCAAACAGGAAACATTCCT													gtccagaagagcacacgggaINStcggctaagagaaggtgagg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:31332934_31332935insCCTTCAAACAGGAAACATTCCT	ENST00000544665.3	+	16	2062_2063	c.1991_1992insCCTTCAAACAGGAAACATTCCT	c.(1990-1995)gatcggfs	p.R665fs	ITGAM_ENST00000287497.8_Frame_Shift_Ins_p.R664fs	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	664					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGCACACGGGATCGGCTAAGAG	0.53													False	0	False	16:31332934	0	CCTTCAAACAGGAAACATTCCT	31332935	-	CCTTCAAACAGGAAACATTCCT	31332934	7	5	92	1	0	1	1	0	0	0	0	0	7937	333	12	0	2053	0	ITGAM	16	31332934	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1521918	31332934	59021819	225	29210											
CHD9	80205	broad.mit.edu	37	chr16	53342763	53342764	+	Frame_Shift_Ins	INS	-	-	TAAGA													cccaaaatccataccagtatINScaggtgaatatgcaagtaat							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:53342763_53342764insTAAGA	ENST00000566029.1	+	34	7380_7381	c.7171_7172insTAAGA	c.(7171-7173)tcafs	p.S2391fs	CHD9_ENST00000398510.3_Frame_Shift_Ins_p.S2407fs|CHD9_ENST00000564845.1_Frame_Shift_Ins_p.S2391fs|CHD9_ENST00000447540.1_Frame_Shift_Ins_p.S2392fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2407	Binds A/T-rich DNA.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CATACCAGTATCAGGTGAATAT	0.386													False	0	False	16:53342763	0	TAAGA	53342764	-	TAAGA	53342763	7	5	92	1	0	1	1	0	0	0	0	0	3355	1435	50	0	7301	0	CHD9	16	53342763	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	22009829	53342763	37011990	226	29211											
VAC14	55697	broad.mit.edu	37	chr16	70726807	70726807	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgctctgcggcaggagcatGagcaggccgtagagggcctt	16	11	1	2			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:70726807G>A	ENST00000261776.5	-	18	2363	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	VAC14_ENST00000536184.2_Silent_p.L133L	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	701					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCAGGAGCATGAGCAGGCCGT	0.662													False	0	False	16:70726807	0	A	70726807	G	A	70726807	2	1	92	1	0	0	0	0	0	0	0	1	17195	1277	45	2		2	VAC14	16	70726807	Silent	SNP	G	TCGA-IB-7887-01A-11D-2154-08	17384044	70726807	19627946	227	29212											
CAMTA2	23125	broad.mit.edu	37	chr17	4875750	4875751	+	Frame_Shift_Ins	INS	-	-	TTATATT													aggtgcaggggggggactgcINScatctggggcactagaatag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:4875750_4875751insTTATATT	ENST00000572543.1	-	16	2711_2712	c.2599_2600insAATATAA	c.(2599-2601)ggcfs	p.G867fs	CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.G885fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.G862fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.G864fs|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.G861fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.G862fs			O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	862					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGGGGGACTGCCATCTGGGGCA	0.624													False	0	False	17:4875750	0	TTATATT	4875751	-	TTATATT	4875750	7	5	92	1	0	1	1	0	0	0	0	0	2634	739	26	0	1105	0	CAMTA2	17	4875750	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08		4875750	76319460	228	29213											
TP53	7157	broad.mit.edu	37	chr17	7578206	7578206	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcatagggcaccaccacacTatgtcgaaaagtgtttctgt	8	11	2	0			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:7578206T>C	ENST00000420246.2	-	6	775	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G|TP53_ENST00000269305.4_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000455263.2_Missense_Mutation_p.S215G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	215	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCACCACACTATGTCGAAAA	0.537		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)			False	0	False	17:7578206	0	C	7578206	T	C	7578206	3	2	92	1	0	0	0	0	1	0	0	0	16464	1522	53	4	651	4	TP53	17	7578206	Missense_Mutation	SNP	T	TCGA-IB-7887-01A-11D-2154-08	2702456	7578206	73617004	229	29214											
RANGRF	29098	broad.mit.edu	37	chr17	8192764	8192769	+	In_Frame_Del	DEL	AGGGCG	AGGGCG	-													agagtgtgtaatgtcctggaAgggcggtagcggggacgcag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	AGGGCG	AGGGCG	-	-	AGGGCG	AGGGCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:8192764_8192769delAGGGCG	ENST00000439238.3	+	3	494_499	c.383_388delAGGGCG	c.(382-390)aagggcggt>agt	p.128_130KGG>S	SLC25A35_ENST00000580340.1_Intron|RANGRF_ENST00000407006.4_Intron|SLC25A35_ENST00000579192.1_Intron|RANGRF_ENST00000226105.6_Intron|RANGRF_ENST00000580434.1_Intron|SLC25A35_ENST00000396278.1_Intron|SLC25A35_ENST00000380067.2_3'UTR			Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	0					protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity			endometrium(1)	1						ATGTCCTGGAAGGGCGGTAGCGGGGA	0.583													False	1	True	17:8192764	0	-	8192769	AGGGCG	-	8192764	7	5	92	1	0	1	0	1	0	0	0	0	13113	72	3	0	393	0	RANGRF	17	8192764	In_Frame_Del	DEL	AGGGCG	TCGA-IB-7887-01A-11D-2154-08	614558	8192764	73002446	230	29215											
ATAD5	79915	broad.mit.edu	37	chr17	29195431	29195432	+	Splice_Site	INS	-	-	CTTTCTTGT													agagatgagaaacatgaaggINStattttgtgtgtcttttttt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:29195431_29195432insCTTTCTTGT	ENST00000321990.4	+	12	3691		c.e12+1			NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5						response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAACATGAAGGTATTTTGTGTG	0.277													False	0	False	17:29195431	0	CTTTCTTGT	29195432	-	CTTTCTTGT	29195431	8	5	92	1	0	1	1	0	0	0	1	0	1080	1275	44	0	3360	0	ATAD5	17	29195431	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	21002667	29195431	51999779	231	29216											
DDX52	11056	broad.mit.edu	37	chr17	36002238	36002239	+	Frame_Shift_Ins	INS	-	-	ATTTCTGTCATGTTTTTTCTCTTTAATTTTTTTCAGT													tggggcttctgatgtgtttgINStgatgctccacacacacctg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:36002238_36002239insATTTCTGTCATGTTTTTTCTCTTTAATTTTTTTCAGT	ENST00000349699.2	-	2	229_230	c.186_187insACTGAAAAAAATTAAAGAGAAAAAACATGACAGAAAT	c.(184-189)tcacaafs	p.Q63fs	DDX52_ENST00000394367.3_De_novo_Start_InFrame	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	63						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TGATGTGTTTGTGATGCTCCAC	0.436													False	0	False	17:36002238	0	ATTTCTGTCATGTTTTTTCTCTTTAATTTTTTTCAGT	36002239	-	ATTTCTGTCATGTTTTTTCTCTTTAATTTTTTTCAGT	36002238	7	5	92	1	0	1	1	0	0	0	0	0	4395	1386	48	0	1668	0	DDX52	17	36002238	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	6806807	36002238	45192972	232	29217											
TOP2A	7153	broad.mit.edu	37	chr17	38560479	38560480	+	Frame_Shift_Ins	INS	-	-	T													ttacttctcgcttgtcattcINScgtttgaagcaagtaaacaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:38560479_38560480insT	ENST00000423485.1	-	19	2365_2366	c.2207_2208insA	c.(2206-2208)cggfs	p.R736fs		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	736					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	p.R736L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GCTTGTCATTCCGTTTGAAGCA	0.376													False	0	False	17:38560479	0	T	38560480	-	T	38560479	7	5	92	1	0	1	1	0	0	0	0	0	16448	842	30	0	2455	0	TOP2A	17	38560479	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2558241	38560479	42634731	233	29218	350	2									
TOP2A	7153	broad.mit.edu	37	chr17	38560480	38560481	+	In_Frame_Ins	INS	-	-	AAAACAGATTTGGTGAAAGTATAAGCTCATATATTCATA													tacttctcgcttgtcattccINSgtttgaagcaagtaaacaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:38560480_38560481insAAAACAGATTTGGTGAAAGTATAAGCTCATATATTCATA	ENST00000423485.1	-	19	2364_2365	c.2206_2207insTATGAATATATGAGCTTATACTTTCACCAAATCTGTTTT	c.(2206-2208)cgg>cTATGAATATATGAGCTTATACTTTCACCAAATCTGTTTTgg	p.736_736R>L*IYELILSPNLFW		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	736					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	p.R736L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTTGTCATTCCGTTTGAAGCAA	0.371													False	0	True	17:38560480	0	AAAACAGATTTGGTGAAAGTATAAGCTCATATATTCATA	38560481	-	AAAACAGATTTGGTGAAAGTATAAGCTCATATATTCATA	38560480	7	5	92	1	0	1	1	0	0	0	0	0	16448	652	23	0	2456	0	TOP2A	17	38560480	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	38560480	42634730	234	29219	350	2									
KRT31	3881	broad.mit.edu	37	chr17	39551782	39551782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcatactgactcctggTctcgttcagcacccgattca	8	15	4	1			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:39551782T>C	ENST00000251645.2	-	4	734	c.682A>G	c.(682-684)Acc>Gcc	p.T228A		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	228	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGACTCCTGGTCTCGTTCAGC	0.597													False	0	False	17:39551782	0	C	39551782	T	C	39551782	3	2	92	1	0	0	0	0	1	0	0	0	8517	1667	58	4	584	4	KRT31	17	39551782	Missense_Mutation	SNP	T	TCGA-IB-7887-01A-11D-2154-08	991302	39551782	41643428	235	29220											
SLC4A1	6521	broad.mit.edu	37	chr17	42335957	42335958	+	Frame_Shift_Ins	INS	-	-	TCAT													ggagtgcagcagctcccctcINSggctctgagccatgtaggca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:42335957_42335958insTCAT	ENST00000262418.6	-	10	1065_1066	c.910_911insATGA	c.(910-912)cgafs	p.R304fs	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	304					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGCTCCCCTCGGCTCTGAGCC	0.649													False	0	False	17:42335957	0	TCAT	42335958	-	TCAT	42335957	7	5	92	1	0	1	1	0	0	0	0	0	14730	884	31	0	1868	0	SLC4A1	17	42335957	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2784175	42335957	38859253	236	29221											
TEX14	56155	broad.mit.edu	37	chr17	56694979	56694980	+	Splice_Site	INS	-	-	G													ttaggagagccattagggttINStctagaaatatttaaaacag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:56694979_56694980insG	ENST00000389934.3	-	6	672_673	c.555_556insC	c.(553-558)ggaaac>ggaCaac	p.N186fs	TEX14_ENST00000240361.8_Splice_Site_p.N186fs|TEX14_ENST00000349033.5_Splice_Site_p.N186fs	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	186						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATTAGGGTTTCTAGAAATAT	0.381													False	0	True	17:56694979	0	G	56694980	-	G	56694979	8	5	92	1	0	1	1	0	0	0	1	0	15860	1855	64	0	4031	0	TEX14	17	56694979	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	14359022	56694979	24500231	237	29222	351	2									
TEX14	56155	broad.mit.edu	37	chr17	56694980	56694981	+	Splice_Site	INS	-	-	TCTTTTCTTTTTTGCCC													taggagagccattagggtttINSctagaaatatttaaaacagg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:56694980_56694981insTCTTTTCTTTTTTGCCC	ENST00000389934.3	-	6	672	c.555_555insGGGCAAAAAAGAAAAGA	c.(553-555)gga>ggGGGCAAAAAAGAAAAGAa	p.-185fs	TEX14_ENST00000240361.8_Splice_Site_p.-185fs|TEX14_ENST00000349033.5_Splice_Site_p.-185fs	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14							cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATTAGGGTTTCTAGAAATATT	0.381													False	0	True	17:56694980	0	TCTTTTCTTTTTTGCCC	56694981	-	TCTTTTCTTTTTTGCCC	56694980	8	5	92	1	0	1	1	0	0	0	1	0	15860	1797	62	0	4032	0	TEX14	17	56694980	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	56694980	24500230	238	29223	351	2									
DDX42	11325	broad.mit.edu	37	chr17	61885261	61885262	+	Splice_Site	INS	-	-	CACACCC													cagggagctttgccagcaggINStatgtgctttctatagaatg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:61885261_61885262insCACACCC	ENST00000578681.1	+	10	1624		c.e10+1		DDX42_ENST00000389924.2_Splice_Site|DDX42_ENST00000583590.1_Splice_Site|DDX42_ENST00000359353.5_Splice_Site|DDX42_ENST00000457800.2_Splice_Site	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTGCCAGCAGGTATGTGCTTTC	0.45													False	0	False	17:61885261	0	CACACCC	61885262	-	CACACCC	61885261	8	5	92	1	0	1	1	0	0	0	1	0	4387	1275	44	0	1054	0	DDX42	17	61885261	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	5190281	61885261	19309949	239	29224											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625193	74625194	+	Frame_Shift_Ins	INS	-	-	TAGACTTT													gtctttggtttctctgcgtcINSgtggggctctggaaaggggc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:74625193_74625194insTAGACTTT	ENST00000156626.7	-	2	930_931	c.731_732insAAAGTCTA	c.(730-732)acgfs	p.-244fs	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1						protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TTCTCTGCGTCGTGGGGCTCTG	0.54													False	0	False	17:74625193	0	TAGACTTT	74625194	-	TAGACTTT	74625193	7	5	92	1	0	1	1	0	0	0	0	0	15305	871	31	0	1102	0	ST6GALNAC1	17	74625193	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	12739932	74625193	6570017	240	29225											
MOCOS	55034	broad.mit.edu	37	chr18	33800182	33800183	+	Splice_Site	INS	-	-	AGAC													tggtcatcaaagccaaaggtINSgggaaaactgcttcattttc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr18:33800182_33800183insAGAC	ENST00000261326.5	+	9	1981		c.e9+2			NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase						Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AAGCCAAAGGTGGGAAAACTGC	0.475													False	0	True	18:33800182	0	AGAC	33800183	-	AGAC	33800182	8	5	92	1	0	1	1	0	0	0	1	0	9756	1710	59	0	1996	0	MOCOS	18	33800182	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08		33800182	44277066	241	29226											
C18orf25	147339	broad.mit.edu	37	chr18	43820137	43820138	+	Frame_Shift_Ins	INS	-	-	GAAAGAAAATGTATACTTGTAT													ccagcgggcttctagaggagINSctgaatgcagaggcaggttg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr18:43820137_43820138insGAAAGAAAATGTATACTTGTAT	ENST00000282059.6	+	3	1256_1257	c.882_883insGAAAGAAAATGTATACTTGTAT	c.(883-885)ctgfs	p.L295fs	C18orf25_ENST00000321319.6_Intron	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	295										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TTCTAGAGGAGCTGAATGCAGA	0.53													False	0	False	18:43820137	0	GAAAGAAAATGTATACTTGTAT	43820138	-	GAAAGAAAATGTATACTTGTAT	43820137	7	5	92	1	0	1	1	0	0	0	0	0	1913	962	34	0	888	0	C18orf25	18	43820137	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	10019955	43820137	34257111	242	29227											
ALPK2	115701	broad.mit.edu	37	chr18	56274671	56274672	+	Splice_Site	DEL	CC	CC	-													ttacctctggcttgggctgaCctgacaataaagaaagaaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr18:56274671_56274672delCC	ENST00000361673.3	-	3	323	c.110delGG	c.(109-111)ggg>gg	p.G37fs		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	37	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTGGGCTGACCTGACAATAAA	0.351													False	2	True	18:56274671	0	-	56274672	CC	-	56274671	8	5	92	1	0	1	0	1	0	0	1	0	545	521	18	0	6446	0	ALPK2	18	56274671	Splice_Site	DEL	CC	TCGA-IB-7887-01A-11D-2154-08	12454534	56274671	21802577	243	29228											
MALT1	10892	broad.mit.edu	37	chr18	56377299	56377300	+	Frame_Shift_Ins	INS	-	-	TTTGTGTTTTAAAAATACG													agcaagaaggtagaaatcatINScataggtaagaagtatttcc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr18:56377299_56377300insTTTGTGTTTTAAAAATACG	ENST00000348428.3	+	6	1178_1179	c.920_921insTTTGTGTTTTAAAAATACG	c.(919-924)atcatafs	p.I308fs	MALT1_ENST00000345724.3_Frame_Shift_Ins_p.I308fs|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	308					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GTAGAAATCATCATAGGTAAGA	0.347			T	BIRC3	MALT								False	0	False	18:56377299	0	TTTGTGTTTTAAAAATACG	56377300	-	TTTGTGTTTTAAAAATACG	56377299	7	5	92	1	0	1	1	0	0	0	0	0	9269	1435	50	0	942	0	MALT1	18	56377299	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	102628	56377299	21699949	244	29229											
REXO1	57455	broad.mit.edu	37	chr19	1825928	1825930	+	In_Frame_Del	DEL	CTC	CTC	-													agccccttctcctcactcttCtcttccttggggggctaaga					rs3217458		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:1825928_1825930delCTC	ENST00000170168.4	-	3	2018_2020	c.1924_1926delGAG	c.(1924-1926)gagdel	p.E642del		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	642						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCACTCTTCTCTTCCTTGGGG	0.606													False	1	True	19:1825928	0	-	1825930	CTC	-	1825928	7	5	92	1	0	1	0	1	0	0	0	0	13320	912	32	0	1795	0	REXO1	19	1825928	In_Frame_Del	DEL	CTC	TCGA-IB-7887-01A-11D-2154-08		1825928	57303055	245	29230											
ZNF556	80032	broad.mit.edu	37	chr19	2876193	2876194	+	Frame_Shift_Ins	INS	-	-	GTAATTCAGGTGTTTAATTGTT													gaaaagttcacaagaaagaaINStatatgggcctcccttttag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:2876193_2876194insGTAATTCAGGTGTTTAATTGTT	ENST00000586426.1	+	3	320_321	c.233_234insGTAATTCAGGTGTTTAATTGTT	c.(232-237)aatatafs	p.NI78fs	ZNF556_ENST00000307635.2_Frame_Shift_Ins_p.NI78fs			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAGAAAGAATATATGGGCCT	0.386													False	0	True	19:2876193	0	GTAATTCAGGTGTTTAATTGTT	2876194	-	GTAATTCAGGTGTTTAATTGTT	2876193	7	5	92	1	0	1	1	0	0	0	0	0	18070	101	4	0	243	0	ZNF556	19	2876193	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1050265	2876193	56252790	246	29231											
UBXN6	80700	broad.mit.edu	37	chr19	4452392	4452393	+	Frame_Shift_Ins	INS	-	-	AACTA													ctccttgatgcaggcgtcccINSgctggtccttcctcagggtg					rs143712546		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:4452392_4452393insAACTA	ENST00000301281.6	-	4	533_534	c.409_410insTAGTT	c.(409-411)cggfs	p.R137fs	UBXN6_ENST00000394765.3_Frame_Shift_Ins_p.R84fs	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	137						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GCAGGCGTCCCGCTGGTCCTTC	0.629													False	0	True	19:4452392	0	AACTA	4452393	-	AACTA	4452392	7	5	92	1	0	1	1	0	0	0	0	0	17001	652	23	0	947	0	UBXN6	19	4452392	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1576199	4452392	54676591	247	29232	352	2									
UBXN6	80700	broad.mit.edu	37	chr19	4452393	4452394	+	Frame_Shift_Ins	INS	-	-	GTGT													tccttgatgcaggcgtcccgINSctggtccttcctcagggtgg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:4452393_4452394insGTGT	ENST00000301281.6	-	4	532_533	c.408_409insACAC	c.(406-411)cagcggfs	p.R137fs	UBXN6_ENST00000394765.3_Frame_Shift_Ins_p.R84fs	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	137						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CAGGCGTCCCGCTGGTCCTTCC	0.634													False	0	False	19:4452393	0	GTGT	4452394	-	GTGT	4452393	7	5	92	1	0	1	1	0	0	0	0	0	17001	1086	38	0	948	0	UBXN6	19	4452393	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	4452393	54676590	248	29233	352	2									
CLEC4M	10332	broad.mit.edu	37	chr19	7833825	7833826	+	Frame_Shift_Ins	INS	-	-	TG													gacaatcgatgtgacgttgaINScaattactggatctgcaaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:7833825_7833826insTG	ENST00000327325.5	+	7	1269_1270	c.1151_1152insTG	c.(1150-1155)gacaatfs	p.N385fs	CLEC4M_ENST00000359059.5_Frame_Shift_Ins_p.N318fs|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000248228.4_Frame_Shift_Ins_p.N363fs|CLEC4M_ENST00000595496.1_Frame_Shift_Ins_p.N249fs|CLEC4M_ENST00000334806.5_Frame_Shift_Ins_p.N334fs|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000394122.2_Frame_Shift_Ins_p.N373fs|CLEC4M_ENST00000596707.1_Frame_Shift_Ins_p.N318fs	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	385	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGTGACGTTGACAATTACTGGA	0.5													False	0	False	19:7833825	0	TG	7833826	-	TG	7833825	7	5	92	1	0	1	1	0	0	0	0	0	3541	275	10	0	1198	0	CLEC4M	19	7833825	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	3381432	7833825	51295158	249	29234	353	2									
CLEC4M	10332	broad.mit.edu	37	chr19	7833826	7833827	+	In_Frame_Ins	INS	-	-	TTT													acaatcgatgtgacgttgacINSaattactggatctgcaaaaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:7833826_7833827insTTT	ENST00000327325.5	+	7	1270_1271	c.1152_1153insTTT	c.(1153-1155)aat>TTTaat	p.384_385insF	CLEC4M_ENST00000359059.5_In_Frame_Ins_p.317_318insF|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000248228.4_In_Frame_Ins_p.362_363insF|CLEC4M_ENST00000595496.1_In_Frame_Ins_p.248_249insF|CLEC4M_ENST00000334806.5_In_Frame_Ins_p.333_334insF|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000394122.2_In_Frame_Ins_p.372_373insF|CLEC4M_ENST00000596707.1_In_Frame_Ins_p.317_318insF	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	384	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GTGACGTTGACAATTACTGGAT	0.505													False	0	False	19:7833826	0	TTT	7833827	-	TTT	7833826	7	5	92	1	0	1	1	0	0	0	0	0	3541	477	17	0	1199	0	CLEC4M	19	7833826	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	7833826	51295157	250	29235	353	2									
FBN3	84467	broad.mit.edu	37	chr19	8130859	8130859	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccccatggccctggctGcccctctggctggacacccc	11	20	1	0			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:8130859G>A	ENST00000600128.1	-	64	8788	c.8374C>T	c.(8374-8376)Cag>Tag	p.Q2792*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q2792*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q2792*			Q75N90	FBN3_HUMAN	fibrillin 3	2792						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCCTGGCTGCCCCTCTGGC	0.687													False	0	True	19:8130859	0	A	8130859	G	A	8130859	4	1	92	1	0	0	0	0	0	1	0	0	5744	1328	46	2	59	2	FBN3	19	8130859	Nonsense_Mutation	SNP	G	TCGA-IB-7887-01A-11D-2154-08	297033	8130859	50998124	251	29236											
MUC16	94025	broad.mit.edu	37	chr19	9060883	9060884	+	Frame_Shift_Ins	INS	-	-	GACAG													gcagataaagacaccagggaINSagatggagggctagtttttt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:9060883_9060884insGACAG	ENST00000397910.4	-	3	26765_26766	c.26562_26563insCTGTC	c.(26560-26565)tcttccfs	p.SS8854fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8856	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACACCAGGGAAGATGGAGGGC	0.515													False	0	False	19:9060883	0	GACAG	9060884	-	GACAG	9060883	7	5	92	1	0	1	1	0	0	0	0	0	10040	246	9	0	17288	0	MUC16	19	9060883	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	930024	9060883	50068100	252	29237											
MUC16	94025	broad.mit.edu	37	chr19	9091031	9091032	+	Frame_Shift_Ins	INS	-	-	CTTTTTCCATGACACT													ggagaggagaagggatatccINSagtggttgatagaatcagtt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:9091031_9091032insCTTTTTCCATGACACT	ENST00000397910.4	-	1	986_987	c.783_784insAGTGTCATGGAAAAAG	c.(781-786)actggafs	p.TG261fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	261	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGGATATCCAGTGGTTGATA	0.45													False	0	False	19:9091031	0	CTTTTTCCATGACACT	9091032	-	CTTTTTCCATGACACT	9091031	7	5	92	1	0	1	1	0	0	0	0	0	10040	603	21	0	43075	0	MUC16	19	9091031	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	30148	9091031	50037952	253	29238											
DHPS	1725	broad.mit.edu	37	chr19	12791111	12791112	+	Frame_Shift_Ins	INS	-	-	TTAA													cgcgtgctggtcttcatcctINSgtgacagtggttccagcttc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:12791111_12791112insTTAA	ENST00000210060.7	-	2	370_371	c.235_236insTTAA	c.(235-237)cagfs	p.Q79fs	DHPS_ENST00000351660.5_Frame_Shift_Ins_p.Q79fs|DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000594424.1_Frame_Shift_Ins_p.Q37fs	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	79					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	GTCTTCATCCTGTGACAGTGGT	0.545													False	0	False	19:12791111	0	TTAA	12791112	-	TTAA	12791111	7	5	92	1	0	1	1	0	0	0	0	0	4515	1580	55	0	905	0	DHPS	19	12791111	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	3700080	12791111	46337872	254	29239											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	92	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-IB-7887-01A-11D-2154-08	1292556	14083667	45045316	255	29240											
UNC13A	23025	broad.mit.edu	37	chr19	17760372	17760372	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggatgtctggcatgctgtcGatgatgatgagaccgccccc	13	12	1	3			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:17760372G>A	ENST00000428389.2	-	14	1727	c.1728C>T	c.(1726-1728)atC>atT	p.I576I	UNC13A_ENST00000550896.1_Silent_p.I488I|UNC13A_ENST00000551649.1_Silent_p.I488I|UNC13A_ENST00000519716.2_Silent_p.I488I|UNC13A_ENST00000252773.7_Silent_p.I488I|UNC13A_ENST00000552293.1_Silent_p.I488I			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	488					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.I488I(1)|p.I576I(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCATGCTGTCGATGATGATGA	0.567													False	0	True	19:17760372	0	A	17760372	G	A	17760372	2	1	92	1	0	0	0	0	0	0	0	1	17068	1048	37	1		1	UNC13A	19	17760372	Silent	SNP	G	TCGA-IB-7887-01A-11D-2154-08	3676705	17760372	41368611	256	29241											
GSK3A	2931	broad.mit.edu	37	chr19	42741064	42741065	+	Frame_Shift_Ins	INS	-	-	CTGCAGA													tcacaatattgcagtggtccINSagcttacgcatgatctgcag							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:42741064_42741065insCTGCAGA	ENST00000398249.4	-	2	1967_1968	c.254_255insTCTGCAG	c.(253-255)ctgfs	p.-85fs	AC006486.9_ENST00000594664.1_Frame_Shift_Ins_p.-80fs|GSK3A_ENST00000222330.3_Frame_Shift_Ins_p.-167fs			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha						insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				TGCAGTGGTCCAGCTTACGCAT	0.525													False	0	False	19:42741064	0	CTGCAGA	42741065	-	CTGCAGA	42741064	7	5	92	1	0	1	1	0	0	0	0	0	6870	581	21	0	986	0	GSK3A	19	42741064	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	24980692	42741064	16387919	257	29242											
PPP1R15A	23645	broad.mit.edu	37	chr19	49377834	49377835	+	Frame_Shift_Ins	INS	-	-	TCCTCTCCTGGCT													aggaggaagatgaggatgtgINSgatagtgaggataaggaaga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:49377834_49377835insTCCTCTCCTGGCT	ENST00000200453.5	+	2	1613_1614	c.1344_1345insTCCTCTCCTGGCT	c.(1345-1347)gatfs	p.D449fs		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	449	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		ATGAGGATGTGGATAGTGAGGA	0.569													False	0	False	19:49377834	0	TCCTCTCCTGGCT	49377835	-	TCCTCTCCTGGCT	49377834	7	5	92	1	0	1	1	0	0	0	0	0	12437	1335	47	0	1346	0	PPP1R15A	19	49377834	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	6636770	49377834	9751149	258	29243											
MBOAT7	79143	broad.mit.edu	37	chr19	54691118	54691118	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaggaggctgagggctcgGaagaacaggagataggagaa	17	7	0	4			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:54691118G>A	ENST00000245615.1	-	4	738	c.258C>T	c.(256-258)ttC>ttT	p.F86F	MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Intron|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000391754.1_Silent_p.F86F	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	86					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGGGCTCGGAAGAACAGGA	0.642													False	0	False	19:54691118	0	A	54691118	G	A	54691118	2	1	92	1	0	0	0	0	0	0	0	1	9425	1165	41	2		2	MBOAT7	19	54691118	Silent	SNP	G	TCGA-IB-7887-01A-11D-2154-08	5313284	54691118	4437865	259	29244											
ZNF530	348327	broad.mit.edu	37	chr19	58118210	58118211	+	Frame_Shift_Ins	INS	-	-	CTCTCCAG													ggccttatgagtgcagtgaaINStgtgggaaagtttttagcca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:58118210_58118211insCTCTCCAG	ENST00000332854.6	+	3	1537_1538	c.1317_1318insCTCTCCAG	c.(1318-1320)tgtfs	p.C440fs	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTGCAGTGAATGTGGGAAAGT	0.421													False	0	False	19:58118210	0	CTCTCCAG	58118211	-	CTCTCCAG	58118210	7	5	92	1	0	1	1	0	0	0	0	0	18054	98	4	0	1327	0	ZNF530	19	58118210	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	3427092	58118210	1010773	260	29245											
ZNF586	54807	broad.mit.edu	37	chr19	58301755	58301756	+	Frame_Shift_Ins	INS	-	-	CCCCAAC													tgctggagaccttgacacttINSatatcctccctgggtaaggt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:58301755_58301756insCCCCAAC	ENST00000598183.1	+	2	326_327	c.150_151insCCCCAAC	c.(151-153)atafs	p.I51fs	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Frame_Shift_Ins_p.I51fs			Q9NXT0	ZN586_HUMAN	zinc finger protein 586	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTTGACACTTATATCCTCCCT	0.465													False	0	False	19:58301755	0	CCCCAAC	58301756	-	CCCCAAC	58301755	7	5	92	1	0	1	1	0	0	0	0	0	18102	1769	61	0		0	ZNF586	19	58301755	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	183545	58301755	827228	261	29246											
TMC2	117532	broad.mit.edu	37	chr20	2577908	2577909	+	Frame_Shift_Ins	INS	-	-	TTGAG													tcgggaattcagagacagctINSgataacaaatatgcatccat							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:2577908_2577909insTTGAG	ENST00000358864.1	+	10	1203_1204	c.1188_1189insTTGAG	c.(1189-1191)gatfs	p.D397fs		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	397						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGAGACAGCTGATAACAAATA	0.505													False	0	False	20:2577908	0	TTGAG	2577909	-	TTGAG	2577908	7	5	92	1	0	1	1	0	0	0	0	0	16067	1567	55	0	1226	0	TMC2	20	2577908	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08		2577908	60447612	262	29247											
DLGAP4	22839	broad.mit.edu	37	chr20	35060133	35060133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggatcatgaaaggcctcGgtgacagccgcccccgccac	12	17	1	2			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:35060133G>A	ENST00000373913.3	+	3	493	c.13G>A	c.(13-15)Ggt>Agt	p.G5S	DLGAP4_ENST00000339266.5_Missense_Mutation_p.G5S|DLGAP4_ENST00000373907.2_Missense_Mutation_p.G5S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G5S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	5					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAAAGGCCTCGGTGACAGCCG	0.692													False	0	False	20:35060133	0	A	35060133	G	A	35060133	3	1	92	1	0	0	0	0	1	0	0	0	4592	1116	39	1	15	1	DLGAP4	20	35060133	Missense_Mutation	SNP	G	TCGA-IB-7887-01A-11D-2154-08	32482225	35060133	27965387	263	29248											
DHX35	60625	broad.mit.edu	37	chr20	37632518	37632519	+	Frame_Shift_Ins	INS	-	-	AAAATAAAAGT													ttcctttgagcaaatgaaagINStgtttgaaagggtgtcacgc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:37632518_37632519insAAAATAAAAGT	ENST00000252011.3	+	11	1012_1013	c.979_980insAAAATAAAAGT	c.(979-981)gtgfs	p.V327fs	DHX35_ENST00000373323.4_Frame_Shift_Ins_p.V296fs|DHX35_ENST00000373325.2_Frame_Shift_Ins_p.V327fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	327	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCAAATGAAAGTGTTTGAAAGG	0.495													False	0	False	20:37632518	0	AAAATAAAAGT	37632519	-	AAAATAAAAGT	37632518	7	5	92	1	0	1	1	0	0	0	0	0	4538	1029	36	0	1021	0	DHX35	20	37632518	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2572385	37632518	25393002	264	29249											
SEMG2	6407	broad.mit.edu	37	chr20	43851593	43851593	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atttctatccaaactgaagaGaaaatacatggcaagtctca	6	8	2	2			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:43851593G>C	ENST00000372769.3	+	2	1410	c.1320G>C	c.(1318-1320)gaG>gaC	p.E440D		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	440	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAACTGAAGAGAAAATACATG	0.383													False	0	True	20:43851593	0	C	43851593	G	C	43851593	3	2	92	1	0	0	0	0	1	0	0	0	14126	933	33	5	1326	5	SEMG2	20	43851593	Missense_Mutation	SNP	G	TCGA-IB-7887-01A-11D-2154-08	6219075	43851593	19173927	265	29250											
MMP9	4318	broad.mit.edu	37	chr20	44642047	44642048	+	Frame_Shift_Ins	INS	-	-	ACTTTCTTCT													ccctcagctggccccacaggINStccccccactgctggccctt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:44642047_44642048insACTTTCTTCT	ENST00000372330.3	+	9	1503_1504	c.1484_1485insACTTTCTTCT	c.(1483-1488)ggtcccfs	p.P496fs		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	496					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	ggccccacaggtccccccactg	0.678											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	20:44642047	0	ACTTTCTTCT	44642048	-	ACTTTCTTCT	44642047	7	5	92	1	0	1	1	0	0	0	0	0	9736	1261	44	0	1518	0	MMP9	20	44642047	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	790454	44642047	18383473	266	29251											
SLC12A5	57468	broad.mit.edu	37	chr20	44669103	44669104	+	Frame_Shift_Ins	INS	-	-	AGTCA													aacatgcgtgtttacggcacINSctgtgtgctcacctgcatgg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:44669103_44669104insAGTCA	ENST00000243964.3	+	7	802_803	c.704_705insAGTCA	c.(703-708)acctgtfs	p.C236fs	SLC12A5_ENST00000454036.1_Frame_Shift_Ins_p.C259fs|SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000372315.1_Frame_Shift_Ins_p.C236fs	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	259					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTTTACGGCACCTGTGTGCTCA	0.545													False	0	True	20:44669103	0	AGTCA	44669104	-	AGTCA	44669103	7	5	92	1	0	1	1	0	0	0	0	0	14467	507	18	0	855	0	SLC12A5	20	44669103	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	27056	44669103	18356417	267	29252											
ADAMTS5	11096	broad.mit.edu	37	chr21	28327190	28327191	+	Splice_Site	INS	-	-	AAACACTTGTAA													gaatgatgcccacataaatcINSctgcccaggagaaagaaaga							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:28327190_28327191insAAACACTTGTAA	ENST00000284987.5	-	2	1226	c.1105_1105insTTACAAGTGTTT	c.(1105-1107)gat>TTACAAGTGTTTgat	p.368_369insLQVF		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	368	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCACATAAATCCTGCCCAGGAG	0.475													False	0	False	21:28327190	0	AAACACTTGTAA	28327191	-	AAACACTTGTAA	28327190	8	5	92	1	0	1	1	0	0	0	1	0	269	869	30	0	1715	0	ADAMTS5	21	28327190	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08		28327190	19802705	268	29253											
CLDN17	26285	broad.mit.edu	37	chr21	31538725	31538726	+	In_Frame_Ins	INS	-	-	TATAAT													agggcaggcgggagagccaaINScaaggagctatagaacttgc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:31538725_31538726insTATAAT	ENST00000286808.3	-	1	245_246	c.210_211insATTATA	c.(208-213)ttgttg>ttgATTATAttg	p.70_71LL>LIIL		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	70					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GGGAGAGCCAACAAGGAGCTAT	0.55													False	0	False	21:31538725	0	TATAAT	31538726	-	TATAAT	31538725	7	5	92	1	0	1	1	0	0	0	0	0	3501	40	2	0	467	0	CLDN17	21	31538725	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	3211535	31538725	16591170	269	29254	354	2									
CLDN17	26285	broad.mit.edu	37	chr21	31538727	31538728	+	Frame_Shift_Ins	INS	-	-	TC													ggcaggcgggagagccaacaINSaggagctatagaacttgcat							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:31538727_31538728insTC	ENST00000286808.3	-	1	243_244	c.208_209insGA	c.(208-210)ttgfs	p.L70fs		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	70					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GAGAGCCAACAAGGAGCTATAG	0.55													False	0	False	21:31538727	0	TC	31538728	-	TC	31538727	7	5	92	1	0	1	1	0	0	0	0	0	3501	131	5	0	469	0	CLDN17	21	31538727	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	2	31538727	16591168	270	29255	354	2									
SON	6651	broad.mit.edu	37	chr21	34945731	34945732	+	In_Frame_Ins	INS	-	-	TTTTACAGTTAGAACTTGGTGACAGAT													agaaggcaataaggaacccaINStcctagttgattttaagaca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:34945731_34945732insTTTTACAGTTAGAACTTGGTGACAGAT	ENST00000381692.2	+	8	1128_1129	c.1087_1088insTTTTACAGTTAGAACTTGGTGACAGAT	c.(1087-1089)atc>aTTTTACAGTTAGAACTTGGTGACAGATtc	p.363_364insLQLELGDRF	SON_ENST00000356577.4_In_Frame_Ins_p.2335_2336insLQLELGDRF|AP000304.2_ENST00000439593.1_RNA|SON_ENST00000290239.6_3'UTR|SON_ENST00000470533.1_3'UTR			P18583	SON_HUMAN	SON DNA binding protein	2335					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TAAGGAACCCATCCTAGTTGAT	0.386													False	0	False	21:34945731	0	TTTTACAGTTAGAACTTGGTGACAGAT	34945732	-	TTTTACAGTTAGAACTTGGTGACAGAT	34945731	7	5	92	1	0	1	1	0	0	0	0	0	15006	217	8	0	7296	0	SON	21	34945731	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	3407004	34945731	13184164	271	29256											
ITSN1	6453	broad.mit.edu	37	chr21	35183426	35183427	+	In_Frame_Ins	INS	-	-	TCTTTAGATTGA													gactgattcaacatctgcccINSctgcccccaaactggccttg							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:35183426_35183427insTCTTTAGATTGA	ENST00000381318.3	+	21	2755_2756	c.2467_2468insTCTTTAGATTGA	c.(2467-2469)cct>cTCTTTAGATTGAct	p.823_823P>LFRLT	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399349.1_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399352.1_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000379960.5_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399353.1_In_Frame_Ins_p.781_781P>LFRLT|ITSN1_ENST00000399355.2_In_Frame_Ins_p.823_823P>LFRLT|ITSN1_ENST00000399367.3_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399338.4_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000381285.4_In_Frame_Ins_p.823_823P>LFRLT|ITSN1_ENST00000381291.4_In_Frame_Ins_p.823_823P>LFRLT|ITSN1_ENST00000437442.2_In_Frame_Ins_p.818_818P>LFRLT	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	823					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AACATCTGCCCCTGCCCCCAAA	0.55													False	0	True	21:35183426	0	TCTTTAGATTGA	35183427	-	TCTTTAGATTGA	35183426	7	5	92	1	0	1	1	0	0	0	0	0	7976	623	22	0	2545	0	ITSN1	21	35183426	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	237695	35183426	12946469	272	29257											
TTC3	7267	broad.mit.edu	37	chr21	38572533	38572533	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtgtttgtttccacagGcactgggtgcaagttcctgt	13	8	0	0			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:38572533G>A	ENST00000399017.2	+	45	8598	c.5851G>A	c.(5851-5853)Gca>Aca	p.A1951T	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Splice_Site_p.A1951T|TTC3_ENST00000355666.1_Splice_Site_p.A1951T	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1951					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTTTCCACAGGCACTGGGTGC	0.428													False	0	False	21:38572533	0	A	38572533	G	A	38572533	5	1	92	1	0	0	0	0	0	0	1	0	16781	1217	42	2	6025	2	TTC3	21	38572533	Splice_Site	SNP	G	TCGA-IB-7887-01A-11D-2154-08	3389107	38572533	9557362	273	29258											
SGSM1	129049	broad.mit.edu	37	chr22	25243745	25243746	+	In_Frame_Ins	INS	-	-	ACCTTG													cgcaaggtgcaagacctggaINSgcagctgatcgagagcgcgt							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:25243745_25243746insACCTTG	ENST00000400358.4	+	4	341_342	c.284_285insACCTTG	c.(283-288)gagcag>gaACCTTGgcag	p.95_96EQ>EPWQ	SGSM1_ENST00000400359.4_In_Frame_Ins_p.95_96EQ>EPWQ	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	95	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAAGACCTGGAGCAGCTGATCG	0.589													False	0	False	22:25243745	0	ACCTTG	25243746	-	ACCTTG	25243745	7	5	92	1	0	1	1	0	0	0	0	0	14303	304	11	0	298	0	SGSM1	22	25243745	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08		25243745	26060821	274	29259											
NEFH	4744	broad.mit.edu	37	chr22	29885067	29885068	+	In_Frame_Ins	INS	-	-	CCA													agaggagaaagaggccaaagINSaggaggagggcaaggaggaa							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:29885067_29885068insCCA	ENST00000310624.6	+	4	1471_1472	c.1438_1439insCCA	c.(1438-1440)gag>gCCAag	p.480_480E>AK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	480	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						agaggccaaagaggaggagggc	0.525													False	0	True	22:29885067	0	CCA	29885068	-	CCA	29885067	7	5	92	1	0	1	1	0	0	0	0	0	10382	943	33	0	1452	0	NEFH	22	29885067	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	4641322	29885067	21419499	275	29260											
PES1	23481	broad.mit.edu	37	chr22	30983324	30983324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcttattgtcctttaaaCgctctacagtgttccactcg	8	11	1	0			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:30983324C>T	ENST00000354694.7	-	4	423	c.317G>A	c.(316-318)cGt>cAt	p.R106H	PES1_ENST00000402281.1_5'UTR|PES1_ENST00000335214.6_Missense_Mutation_p.R106H|PES1_ENST00000405677.1_5'UTR|PES1_ENST00000402284.3_Missense_Mutation_p.R106H	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1		Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GTCCTTTAAACGCTCTACAGT	0.498													False	0	True	22:30983324	0	T	30983324	C	T	30983324	3	4	92	1	0	0	0	0	1	0	0	0	11801	536	19	1	1497	1	PES1	22	30983324	Missense_Mutation	SNP	C	TCGA-IB-7887-01A-11D-2154-08	1098257	30983324	20321242	276	29261											
CYTH4	27128	broad.mit.edu	37	chr22	37688745	37688746	+	Splice_Site	INS	-	-	ACTTGCCCTA													gctcctggaggacatccaggINStgagtgcacactcgtgtcca							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:37688745_37688746insACTTGCCCTA	ENST00000405206.3	+	2	185		c.e2+1		CYTH4_ENST00000248901.6_Splice_Site|CYTH4_ENST00000402997.1_Splice_Site|CYTH4_ENST00000439667.1_Splice_Site			Q9UIA0	CYH4_HUMAN	cytohesin 4						regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GGACATCCAGGTGAGTGCACAC	0.604													False	0	False	22:37688745	0	ACTTGCCCTA	37688746	-	ACTTGCCCTA	37688745	8	5	92	1	0	1	1	0	0	0	1	0	4231	1275	44	0	109	0	CYTH4	22	37688745	Splice_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	6705421	37688745	13615821	277	29262											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29938208	29938209	+	Frame_Shift_Ins	INS	-	-	AAGAAAGAAATGTA													cagcgttctccttcataaacINSgaggtgagtgtaaccttcta							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:29938208_29938209insAAGAAAGAAATGTA	ENST00000378993.1	+	8	1727_1728	c.1054_1055insAAGAAAGAAATGTA	c.(1054-1056)cgafs	p.R352fs	IL1RAPL1_ENST00000302196.4_Frame_Shift_Ins_p.R352fs	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	352					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.R352R(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CCTTCATAAACGAGGTGAGTGT	0.401													False	0	False	X:29938208	0	AAGAAAGAAATGTA	29938209	-	AAGAAAGAAATGTA	29938208	7	5	92	1	0	1	1	0	0	0	0	0	7711	528	19	0	1080	0	IL1RAPL1	23	29938208	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08		29938208	125332352	278	29263											
CACNA1F	778	broad.mit.edu	37	chrX	49079450	49079451	+	Frame_Shift_Del	DEL	GG	GG	-													gcttcgcttggtgtgggtctGgtcaaagttgaacttgcccc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:49079450_49079451delGG	ENST00000376265.2	-	15	2116_2117	c.2055_2056delCC	c.(2053-2058)gaccagfs	p.DQ685fs	CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000323022.5_Frame_Shift_Del_p.DQ674fs|CACNA1F_ENST00000376251.1_Frame_Shift_Del_p.DQ620fs	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	685					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTGTGGGTCTGGTCAAAGTTGA	0.54													False	2	False	X:49079450	0	-	49079451	GG	-	49079450	7	5	92	1	0	1	0	1	0	0	0	0	2563	1357	47	0	4013	0	CACNA1F	23	49079450	Frame_Shift_Del	DEL	GG	TCGA-IB-7887-01A-11D-2154-08	19141242	49079450	106191110	279	29264	355	2									
CACNA1F	778	broad.mit.edu	37	chrX	49079451	49079452	+	Translation_Start_Site	INS	-	-	ATTTCATCATTCTCT													ttcgcttggtgtgggtctggINStcaaagttgaacttgccccc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:49079451_49079452insATTTCATCATTCTCT	ENST00000480889.1	-	0	150_151				CACNA1F_ENST00000323022.5_In_Frame_Ins_p.674_674D>EENDEI|CACNA1F_ENST00000376265.2_In_Frame_Ins_p.685_685D>EENDEI|CACNA1F_ENST00000376251.1_In_Frame_Ins_p.620_620D>EENDEI			O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit						axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGTGGGTCTGGTCAAAGTTGAA	0.535													False	0	False	X:49079451	0	ATTTCATCATTCTCT	49079452	-	ATTTCATCATTCTCT	49079451	6	5	92	1	0	1	1	0	0	0	0	0	2563	1252	44	0		0	CACNA1F	23	49079451	Translation_Start_Site	INS	-	TCGA-IB-7887-01A-11D-2154-08	1	49079451	106191109	280	29265	355	2									
SMC1A	8243	broad.mit.edu	37	chrX	53439889	53439890	+	In_Frame_Ins	INS	-	-	CTTGACTTGCAGTTTAGACAAATAGAA													ctgctgctcccgcatcatttINStgcccagctccttcttcttc							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:53439889_53439890insCTTGACTTGCAGTTTAGACAAATAGAA	ENST00000322213.4	-	5	941_942	c.814_815insTTCTATTTGTCTAAACTGCAAGTCAAG	c.(814-816)aaa>aTTCTATTTGTCTAAACTGCAAGTCAAGaa	p.272_272K>ILFV*TASQE	SMC1A_ENST00000463684.1_5'UTR|SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	272					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ccgcatcattttgcccagctcc	0.505													False	0	True	X:53439889	0	CTTGACTTGCAGTTTAGACAAATAGAA	53439890	-	CTTGACTTGCAGTTTAGACAAATAGAA	53439889	7	5	92	1	0	1	1	0	0	0	0	0	14861	1841	64	0	2970	0	SMC1A	23	53439889	In_Frame_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	4360438	53439889	101830671	281	29266											
IRS4	8471	broad.mit.edu	37	chrX	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-													ctgctgctagagctgccgctGccgccgctgctgcacctctt					rs2073114	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616													False	2	True	X:107979510	0	-	107979512	GCC	-	107979510	7	5	92	1	0	1	0	1	0	0	0	0	7892	1319	46	0	3712	0	IRS4	23	107979510	In_Frame_Del	DEL	GCC	TCGA-IB-7887-01A-11D-2154-08	54539621	107979510	47291050	282	29267											
THOC2	57187	broad.mit.edu	37	chrX	122747350	122747351	+	Frame_Shift_Ins	INS	-	-	ATAG													cttatttttttccttgtcttINStctcatttggataaggagat							TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:122747350_122747351insATAG	ENST00000245838.8	-	36	4607_4608	c.4576_4577insCTAT	c.(4576-4578)aaafs	p.K1526fs	THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000355725.4_Frame_Shift_Ins_p.K1526fs|THOC2_ENST00000491737.1_Frame_Shift_Ins_p.K1411fs	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1526	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTCCTTGTCTTTCTCATTTGGA	0.337													False	0	True	X:122747350	0	ATAG	122747351	-	ATAG	122747350	7	5	92	1	0	1	1	0	0	0	0	0	15947	1841	64	0	216	0	THOC2	23	122747350	Frame_Shift_Ins	INS	-	TCGA-IB-7887-01A-11D-2154-08	14767840	122747350	32523210	283	29268											
IGSF1	3547	broad.mit.edu	37	chrX	130408064	130408064	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatttatttacctggttcGcagtcgaggccacttcttcc	9	12	1	0			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:130408064G>A	ENST00000370904.1	-	25	4751	c.3841C>T	c.(3841-3843)Cga>Tga	p.R1281*	IGSF1_ENST00000370910.1_Nonsense_Mutation_p.R1281*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.R1290*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.R1295*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1290					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TACCTGGTTCGCAGTCGAGGC	0.502													False	0	False	X:130408064	0	A	130408064	G	A	130408064	4	1	92	1	0	0	0	0	0	1	0	0	7646	1095	38	1	150	1	IGSF1	23	130408064	Nonsense_Mutation	SNP	G	TCGA-IB-7887-01A-11D-2154-08	7660714	130408064	24862496	284	29269											
SCNN1D	6339	broad.mit.edu	37	chr1	1225872	1225872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggacactgcttctaccGcctctaccaggacctggaga	9	15	2	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:1225872G>A	ENST00000338555.2	+	11	2448	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	SCNN1D_ENST00000325425.8_Missense_Mutation_p.R501H|SCNN1D_ENST00000379116.5_Missense_Mutation_p.R599H|SCNN1D_ENST00000400928.3_Missense_Mutation_p.R435H					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TGCTTCTACCGCCTCTACCAG	0.667													False	0	False	1:1225872	0	A	1225872	G	A	1225872	3	1	93	1	0	0	0	0	1	0	0	0	14010	1087	38	1	1544	1	SCNN1D	1	1225872	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08		1225872	248024749	1	29270											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	93	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-IB-7888-01A-11D-2154-08	21761513	22987385	226263236	2	29271											
CSMD2	114784	broad.mit.edu	37	chr1	33999485	33999485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtagcctttttgacaaCggaagaggactgtgcttcca	12	9	0	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:33999485C>T	ENST00000373381.4	-	63	10078	c.9902G>A	c.(9901-9903)cGt>cAt	p.R3301H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3157						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTTTGACAACGGAAGAGGAC	0.562													False	0	False	1:33999485	0	T	33999485	C	T	33999485	3	4	93	1	0	0	0	0	1	0	0	0	3970	536	19	1	1025	1	CSMD2	1	33999485	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	11012100	33999485	215251136	3	29272											
GRIK3	2899	broad.mit.edu	37	chr1	37282815	37282815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagagatgatgatgagcGtgaagaaccaccagatgcca	13	7	0	7			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:37282815G>A	ENST00000373091.3	-	13	1953	c.1937C>T	c.(1936-1938)aCg>aTg	p.T646M	GRIK3_ENST00000373093.4_Missense_Mutation_p.T646M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	646					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GATGATGAGCGTGAAGAACCA	0.547													False	0	False	1:37282815	0	A	37282815	G	A	37282815	3	1	93	1	0	0	0	0	1	0	0	0	6822	1145	40	1	838	1	GRIK3	1	37282815	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	3283330	37282815	211967806	4	29273											
PTBP2	58155	broad.mit.edu	37	chr1	97250690	97250690	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacttgtgaatttgaatGtaaaatacaacaatgataaa	5	5	0	3			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:97250690G>C	ENST00000609116.1	+	8	866	c.784G>C	c.(784-786)Gta>Cta	p.V262L	PTBP2_ENST00000394184.3_Missense_Mutation_p.V273L|PTBP2_ENST00000541987.1_Missense_Mutation_p.V231L|PTBP2_ENST00000370198.1_Missense_Mutation_p.V262L|PTBP2_ENST00000370197.1_Missense_Mutation_p.V262L|PTBP2_ENST00000426398.2_Missense_Mutation_p.V262L|PTBP2_ENST00000482253.1_3'UTR			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2								nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GAATTTGAATGTAAAATACAA	0.388													False	0	False	1:97250690	0	C	97250690	G	C	97250690	3	2	93	1	0	0	0	0	1	0	0	0	12802	1377	48	5	814	5	PTBP2	1	97250690	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	59967875	97250690	151999931	5	29274											
HIST2H2BF	440689	broad.mit.edu	37	chr1	149783726	149783726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggacgagatgccggtgtcGgggtggacctgcttcagcac	16	10	1	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:149783726G>A	ENST00000427880.2	-	1	199	c.153C>T	c.(151-153)ccC>ccT	p.P51P	HIST2H2BF_ENST00000369167.1_Silent_p.P51P|HIST2H2BF_ENST00000545683.1_Silent_p.P51P|HIST2H2BF_ENST00000469483.1_5'UTR			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	51					nucleosome assembly	nucleosome|nucleus	DNA binding	p.P51P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGCCGGTGTCGGGGTGGACCT	0.592													False	0	True	1:149783726	0	A	149783726	G	A	149783726	2	1	93	1	0	0	0	0	0	0	0	1	7227	1103	39	1		1	HIST2H2BF	1	149783726	Silent	SNP	G	TCGA-IB-7888-01A-11D-2154-08	52533036	149783726	99466895	6	29275											
SLC27A3	11000	broad.mit.edu	37	chr1	153750721	153750722	+	Frame_Shift_Ins	INS	-	-	AACTCATAGGCAGTGCACCCAGTCAGCCAAGAAGTGATGTA													ggagcgttttgtgcggcgctINStcgggcccctgcaggtgctg							TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr1:153750721_153750722insAACTCATAGGCAGTGCACCCAGTCAGCCAAGAAGTGATGTA	ENST00000271857.2	+	5	2390_2391	c.1630_1631insAACTCATAGGCAGTGCACCCAGTCAGCCAAGAAGTGATGTA	c.(1630-1632)ttcfs	p.F544fs	SLC27A3_ENST00000368661.3_Frame_Shift_Ins_p.F463fs|SLC27A3_ENST00000484014.1_3'UTR			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	463					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGTGCGGCGCTTCGGGCCCCTG	0.644													False	0	False	1:153750721	0	AACTCATAGGCAGTGCACCCAGTCAGCCAAGAAGTGATGTA	153750722	-	AACTCATAGGCAGTGCACCCAGTCAGCCAAGAAGTGATGTA	153750721	7	5	93	1	0	1	1	0	0	0	0	0	14607	1609	56	0	1405	0	SLC27A3	1	153750721	Frame_Shift_Ins	INS	-	TCGA-IB-7888-01A-11D-2154-08	3966995	153750721	95499900	7	29276											
TEKT4	150483	broad.mit.edu	37	chr2	95539829	95539830	+	Frame_Shift_Ins	INS	-	-	G													accgaggtgcaggctcatccINSgtactccaccaccttccaag					rs149873671		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr2:95539829_95539830insG	ENST00000295201.4	+	3	826_827	c.689_690insG	c.(688-693)ccgtacfs	p.Y231fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663													False	1	False	2:95539829	0	G	95539830	-	G	95539829	7	5	93	1	0	1	1	0	0	0	0	0	15837	652	23	0	699	0	TEKT4	2	95539829	Frame_Shift_Ins	INS	-	TCGA-IB-7888-01A-11D-2154-08		95539829	147659544	8	29277											
ZAP70	7535	broad.mit.edu	37	chr2	98354224	98354224	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccccctccccaggcccGctcagcagggaagtggccgc	11	19	2	0	rs150631046		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr2:98354224G>A	ENST00000264972.5	+	12	1702	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	ZAP70_ENST00000451498.2_Missense_Mutation_p.R189H|ZAP70_ENST00000442208.1_Missense_Mutation_p.R370H|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	496	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCCCAGGCCCGCTCAGCAGGG	0.627													False	0	True	2:98354224	0	A	98354224	G	A	98354224	3	1	93	1	0	0	0	0	1	0	0	0	17598	1087	38	1	1525	1	ZAP70	2	98354224	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	2814395	98354224	144845149	9	29278											
HOXD1	3231	broad.mit.edu	37	chr2	177054575	177054575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgctagcccctccagcgCgatccgcacgaatttcagca	10	17	1	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr2:177054575C>T	ENST00000331462.4	+	2	915	c.692C>T	c.(691-693)gCg>gTg	p.A231V		NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	231						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CCCTCCAGCGCGATCCGCACG	0.557													False	0	False	2:177054575	0	T	177054575	C	T	177054575	3	4	93	1	0	0	0	0	1	0	0	0	7365	768	27	1	698	1	HOXD1	2	177054575	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	78700351	177054575	66144798	10	29279											
CACNA2D3	55799	broad.mit.edu	37	chr3	54798357	54798357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcatgatgtggtgtggacCgaagcttacattgacagcac	13	8	0	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr3:54798357C>T	ENST00000474759.1	+	13	1407	c.1359C>T	c.(1357-1359)acC>acT	p.T453T	CACNA2D3_ENST00000288197.5_Silent_p.T453T|CACNA2D3_ENST00000415676.2_Silent_p.T453T|CACNA2D3_ENST00000490478.1_Silent_p.T359T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	453	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGGTGTGGACCGAAGCTTACA	0.507													False	0	False	3:54798357	0	T	54798357	C	T	54798357	2	4	93	1	0	0	0	0	0	0	0	1	2570	639	23	1		1	CACNA2D3	3	54798357	Silent	SNP	C	TCGA-IB-7888-01A-11D-2154-08		54798357	143224073	11	29280											
RETNLB	84666	broad.mit.edu	37	chr3	108474644	108474644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggtcaggtggcagcagCgggcagtggtccagtccacc	16	12	2	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr3:108474644C>T	ENST00000295755.6	-	3	515	c.317G>A	c.(316-318)cGc>cAc	p.R106H	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	106					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTGGCAGCAGCGGGCAGTGGT	0.552													False	0	True	3:108474644	0	T	108474644	C	T	108474644	3	4	93	1	0	0	0	0	1	0	0	0	13316	768	27	1	22	1	RETNLB	3	108474644	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	53676287	108474644	89547786	12	29281											
ALG1L	200810	broad.mit.edu	37	chr3	125648197	125648197	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccactgggaggcgctgctcAaaagggtttgccctgagact	14	11	1	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr3:125648197A>G	ENST00000340333.3	-	6	725	c.562T>C	c.(562-564)Tga>Cga	p.*188R	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	0							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						GGCGCTGCTCAAAAGGGTTTG	0.572													False	0	True	3:125648197	0	G	125648197	A	G	125648197	4	3	93	1	0	0	0	0	0	0	0	0	517	143	5	4	5	4	ALG1L	3	125648197	Nonstop_Mutation	SNP	A	TCGA-IB-7888-01A-11D-2154-08	17173553	125648197	72374233	13	29282											
MUC4	4585	broad.mit.edu	37	chr3	195515980	195515980	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaaccttgtcgtctctcctGaggtggatattccttcgctt	8	11	1	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr3:195515980G>T	ENST00000463781.3	-	2	2930	c.2471C>A	c.(2470-2472)tCa>tAa	p.S824*	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.S824*|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	829	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGTCTCTCCTGAGGTGGATAT	0.577													False	0	False	3:195515980	0	T	195515980	G	T	195515980	4	4	93	1	0	0	0	0	0	1	0	0	10045	1294	45	3		3	MUC4	3	195515980	Nonsense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	69867783	195515980	2506450	14	29283											
FBXL5	26234	broad.mit.edu	37	chr4	15642506	15642507	+	Splice_Site	INS	-	-	CTTA													tttaactgttcatattcattINSctggaaaccaaaaaaaaaat							TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:15642506_15642507insCTTA	ENST00000341285.3	-	3	425	c.301_301insTAAG	c.(301-303)aat>TAAGaat	p.N101fs	FBXL5_ENST00000412094.2_Splice_Site_p.N84fs|FBXL5_ENST00000382358.4_5'UTR	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	101	Hemerythrin-like.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TCATATTCATTCTGGAAACCAA	0.332													False	0	True	4:15642506	0	CTTA	15642507	-	CTTA	15642506	8	5	93	1	0	1	1	0	0	0	1	0	5762	1797	62	0	1810	0	FBXL5	4	15642506	Splice_Site	INS	-	TCGA-IB-7888-01A-11D-2154-08		15642506	175511770	15	29284											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	93	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-IB-7888-01A-11D-2154-08	24792199	40434705	150719571	16	29285											
KDR	3791	broad.mit.edu	37	chr4	55956204	55956204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttaaccacgttcttctcCgataagaggatatttcgtgc	7	9	2	1	rs147630437		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:55956204C>T	ENST00000263923.4	-	23	3406	c.3111G>A	c.(3109-3111)tcG>tcA	p.S1037S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1037	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CGTTCTTCTCCGATAAGAGGA	0.428			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			False	0	False	4:55956204	0	T	55956204	C	T	55956204	2	4	93	1	0	0	0	0	0	0	0	1	8189	639	23	1		1	KDR	4	55956204	Silent	SNP	C	TCGA-IB-7888-01A-11D-2154-08	15521499	55956204	135198072	17	29286											
C4orf21	55345	broad.mit.edu	37	chr4	113460845	113460845	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgcaatccatcttcccttCcttaaaaaaacatacgacat	3	12	1	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:113460845C>T	ENST00000505019.1	-	28	6298	c.6173G>A	c.(6172-6174)gGa>gAa	p.G2058E	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATCTTCCCTTCCTTAAAAAAA	0.373													False	0	True	4:113460845	0	T	113460845	C	T	113460845	5	4	93	1	0	0	0	0	0	0	1	0	2271	869	30	2	145	2	C4orf21	4	113460845	Splice_Site	SNP	C	TCGA-IB-7888-01A-11D-2154-08	57504641	113460845	77693431	18	29287											
TLL1	7092	broad.mit.edu	37	chr4	166978413	166978413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgggcagttaccagtgtGcctgtgagcctggctatgag	14	10	1	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr4:166978413G>A	ENST00000061240.2	+	14	2445	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	TLL1_ENST00000507499.1_Missense_Mutation_p.A623T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	600	EGF-like 1; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTACCAGTGTGCCTGTGAGCC	0.512													False	0	False	4:166978413	0	A	166978413	G	A	166978413	3	1	93	1	0	0	0	0	1	0	0	0	16027	1319	46	2	1852	2	TLL1	4	166978413	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	53517568	166978413	24175863	19	29288											
SLC6A19	340024	broad.mit.edu	37	chr5	1208876	1208876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggagccttcatgatccCgttcctcatcctgctggtcc	9	15	2	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:1208876C>T	ENST00000304460.10	+	2	274	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	73					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCATGATCCCGTTCCTCATC	0.657													False	0	True	5:1208876	0	T	1208876	C	T	1208876	3	4	93	1	0	0	0	0	1	0	0	0	14762	652	23	1	224	1	SLC6A19	5	1208876	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08		1208876	179706384	20	29289											
SLC1A3	6507	broad.mit.edu	37	chr5	36684084	36684084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacatcacgctcatcatcGcggtggactggttcctgtga	11	12	3	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:36684084G>A	ENST00000265113.4	+	9	1884	c.1408G>A	c.(1408-1410)Gcg>Acg	p.A470T	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Intron	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	470					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GCTCATCATCGCGGTGGACTG	0.587													False	0	False	5:36684084	0	A	36684084	G	A	36684084	3	1	93	1	0	0	0	0	1	0	0	0	14514	1087	38	1	1455	1	SLC1A3	5	36684084	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	35475208	36684084	144231176	21	29290											
CCNB1	891	broad.mit.edu	37	chr5	68471261	68471275	+	In_Frame_Del	DEL	TGGAACTAACTATGT	TGGAACTAACTATGT	-													tactttggccaaatacctgaTggaactaactatgttggact					rs144115364		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	TGGAACTAACTATGT	TGGAACTAACTATGT	-	-	TGGAACTAACTATGT	TGGAACTAACTATGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:68471261_68471275delTGGAACTAACTATGT	ENST00000256442.5	+	7	1233_1247	c.980_994delTGGAACTAACTATGT	c.(979-996)atggaactaactatgttg>atg	p.ELTML328del		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	328					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AAATACCTGATGGAACTAACTATGTTGGACTATGA	0.405													False	1	True	5:68471261	0	-	68471275	TGGAACTAACTATGT	-	68471261	7	5	93	1	0	1	0	1	0	0	0	0	2934	1464	51	0	1006	0	CCNB1	5	68471261	In_Frame_Del	DEL	TGGAACTAACTATGT	TCGA-IB-7888-01A-11D-2154-08	31787177	68471261	112443999	22	29291											
BDP1	55814	broad.mit.edu	37	chr5	70840231	70840231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaattggaaaataaaaacCtcggaccagttacaacagca	7	9	0	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:70840231C>A	ENST00000358731.4	+	31	6723	c.6460C>A	c.(6460-6462)Ctc>Atc	p.L2154I	BDP1_ENST00000380675.2_Missense_Mutation_p.L290I	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2154					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAATAAAAACCTCGGACCAGT	0.358													False	0	False	5:70840231	0	A	70840231	C	A	70840231	3	1	93	1	0	0	0	0	1	0	0	0	1399	681	24	3	6582	3	BDP1	5	70840231	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	2368970	70840231	110075029	23	29292											
POLK	51426	broad.mit.edu	37	chr5	74893770	74893770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattctaggccaggattgaTgacaaagtactcaacatcaa	7	9	4	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:74893770T>C	ENST00000241436.4	+	15	2712	c.2540T>C	c.(2539-2541)aTg>aCg	p.M847T	POLK_ENST00000504026.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.M649T|POLK_ENST00000352007.5_Missense_Mutation_p.M649T|POLK_ENST00000380481.3_Missense_Mutation_p.M757T|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	847				M -> V (in Ref. 3; AAF23270).	DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCAGGATTGATGACAAAGTAC	0.244								DNA polymerases (catalytic subunits)					False	0	False	5:74893770	0	C	74893770	T	C	74893770	3	2	93	1	0	0	0	0	1	0	0	0	12273	1464	51	4	2594	4	POLK	5	74893770	Missense_Mutation	SNP	T	TCGA-IB-7888-01A-11D-2154-08	4053539	74893770	106021490	24	29293											
CHSY3	337876	broad.mit.edu	37	chr5	129241297	129241297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagtatgagtggttcatgCgcgccgacgacgatgtctac	12	10	2	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:129241297C>T	ENST00000305031.4	+	1	1133	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	259						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GTGGTTCATGCGCGCCGACGA	0.562													False	0	True	5:129241297	0	T	129241297	C	T	129241297	3	4	93	1	0	0	0	0	1	0	0	0	3436	768	27	1	777	1	CHSY3	5	129241297	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	54347527	129241297	51673963	25	29294											
PCDHA6	0	broad.mit.edu	37	chr5	140209350	140209350	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caggtgttcgtgctggacgaGaacgacaacgcgccggcgct	15	12	0	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:140209350G>A	ENST00000529310.1	+	1	1788	c.1674G>A	c.(1672-1674)gaG>gaA	p.E558E	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACGAGAACGACAACG	0.687													False	0	False	5:140209350	0	A	140209350	G	A	140209350	2	1	93	1	0	0	0	0	0	0	0	1	11596	933	33	2		2	PCDHA6	5	140209350	Silent	SNP	G	TCGA-IB-7888-01A-11D-2154-08	10968053	140209350	40705910	26	29295											
PCDHGA8	0	broad.mit.edu	37	chr5	140774356	140774356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctctctccgccactgtcaCgctcaccgtagccgtggctg	9	19	3	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:140774356C>T	ENST00000398604.2	+	1	1976	c.1976C>T	c.(1975-1977)aCg>aTg	p.T659M	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACTGTCACGCTCACCGTA	0.642													False	0	False	5:140774356	0	T	140774356	C	T	140774356	3	4	93	1	0	0	0	0	1	0	0	0	11628	536	19	1	1978	1	PCDHGA8	5	140774356	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	565006	140774356	40140904	27	29296											
PCDHGB7	0	broad.mit.edu	37	chr5	140797472	140797472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgggccggcccgcggcagGtactatttcctttgctgctg	14	14	0	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr5:140797472G>A	ENST00000398594.2	+	1	46	c.46G>A	c.(46-48)Gta>Ata	p.V16I	PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			cccgcggcAGGTACTATTTCC	0.642											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	5:140797472	0	A	140797472	G	A	140797472	3	1	93	1	0	0	0	0	1	0	0	0	11636	1261	44	2	48	2	PCDHGB7	5	140797472	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	23116	140797472	40117788	28	29297											
RREB1	6239	broad.mit.edu	37	chr6	7229365	7229365	+	Nonsense_Mutation	SNP	C	C	T													atgtggcggcagaccagggtCaagaaaagccgcaggccacg							TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:7229365C>T	ENST00000379938.2	+	10	1570	c.1033C>T	c.(1033-1035)Caa>Taa	p.Q345*	RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q345*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q345*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q345*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	345					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGACCAGGGTCAAGAAAAGCC	0.627													False	0	False	6:7229365	0	T	7229365	C	T	7229365	4	4	93	1	0	0	0	0	0	1	0	0	13758	827	29	2	1059	2	RREB1	6	7229365	Nonsense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08		7229365	163885702	29	29298	356	2									
RREB1	6239	broad.mit.edu	37	chr6	7229368	7229368	+	Nonsense_Mutation	SNP	G	G	T													tggcggcagaccagggtcaaGaaaagccgcaggccacgccc							TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:7229368G>T	ENST00000379938.2	+	10	1573	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	RREB1_ENST00000334984.6_Nonsense_Mutation_p.E346*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.E346*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.E346*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	346					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAGGGTCAAGAAAAGCCGCA	0.632													False	0	True	6:7229368	0	T	7229368	G	T	7229368	4	4	93	1	0	0	0	0	0	1	0	0	13758	943	33	3	1062	3	RREB1	6	7229368	Nonsense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	3	7229368	163885699	30	29299	356	2									
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	93	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-7888-01A-11D-2154-08	164082	7393450	163721617	31	29300											
SRF	6722	broad.mit.edu	37	chr6	43144290	43144295	+	In_Frame_Del	DEL	GGCAGT	GGCAGT	-													actctgtgtcttgcaggtggGgcagtggcccagcaggtccc							TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	GGCAGT	GGCAGT	-	-	GGCAGT	GGCAGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:43144290_43144295delGGCAGT	ENST00000265354.4	+	4	1405_1410	c.1047_1052delGGCAGT	c.(1045-1053)ggggcagtg>ggg	p.AV350del	SRF_ENST00000457278.2_In_Frame_Del_p.AV146del	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	350					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TTGCAGGTGGGGCAGTGGCCCAGCAG	0.617													False	1	False	6:43144290	0	-	43144295	GGCAGT	-	43144290	7	5	93	1	0	1	0	1	0	0	0	0	15225	1219	43	0	1061	0	SRF	6	43144290	In_Frame_Del	DEL	GGCAGT	TCGA-IB-7888-01A-11D-2154-08	35750840	43144290	127970777	32	29301											
DDO	8528	broad.mit.edu	37	chr6	110714483	110714483	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccacgatgtcaaaggacGgatgaagttcccacaggtct	11	10	2	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:110714483G>A	ENST00000368924.3	-	5	620	c.605C>T	c.(604-606)cCg>cTg	p.P202L	DDO_ENST00000368923.3_Missense_Mutation_p.P143L	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	174					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GTCAAAGGACGGATGAAGTTC	0.502													False	0	False	6:110714483	0	A	110714483	G	A	110714483	3	1	93	1	0	0	0	0	1	0	0	0	4359	1116	39	1	508	1	DDO	6	110714483	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	67570193	110714483	60400584	33	29302											
TCP10	6953	broad.mit.edu	37	chr6	167789540	167789540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgccaccggagttttgcGgacttcgggaagatggatgc	14	9	1	1	rs28637384		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:167789540G>A	ENST00000366827.2	-	6	813	c.602C>T	c.(601-603)cCg>cTg	p.P201L	TCP10_ENST00000397829.4_Missense_Mutation_p.P201L			Q12799	TCP10_HUMAN	t-complex 10	228						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGAGTTTTGCGGACTTCGGGA	0.612													False	0	False	6:167789540	0	A	167789540	G	A	167789540	3	1	93	1	0	0	0	0	1	0	0	0	15792	1116	39	1	390	1	TCP10	6	167789540	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	57075057	167789540	3325527	34	29303											
PHF10	55274	broad.mit.edu	37	chr6	170118958	170118958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcatatagtattctcctGtttcatcaggtggccatttg	9	8	3	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr6:170118958G>A	ENST00000339209.4	-	3	374	c.251C>T	c.(250-252)aCa>aTa	p.T84I	PHF10_ENST00000366780.4_Missense_Mutation_p.T84I|PHF10_ENST00000464779.1_5'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	84					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GTATTCTCCTGTTTCATCAGG	0.313													False	0	True	6:170118958	0	A	170118958	G	A	170118958	3	1	93	1	0	0	0	0	1	0	0	0	11890	1377	48	2	1285	2	PHF10	6	170118958	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	2329418	170118958	996109	35	29304											
NXPH1	30010	broad.mit.edu	37	chr7	8790918	8790918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggcccattgttaaaaCgggcaagtttaagaaaatgt	11	5	0	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:8790918C>T	ENST00000405863.1	+	3	1246	c.335C>T	c.(334-336)aCg>aTg	p.T112M	NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	112	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ATTGTTAAAACGGGCAAGTTT	0.473													False	0	True	7:8790918	0	T	8790918	C	T	8790918	3	4	93	1	0	0	0	0	1	0	0	0	10858	536	19	1	341	1	NXPH1	7	8790918	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08		8790918	150347745	36	29305											
POLM	27434	broad.mit.edu	37	chr7	44112788	44112788	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggccttggcggggaggggTgaaggtgggggtcagggggc	25	6	1	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:44112788T>G	ENST00000395831.3	-	9	1446	c.1400A>C	c.(1399-1401)cAc>cCc	p.H467P	POLM_ENST00000242248.5_3'UTR|POLM_ENST00000335195.6_3'UTR	NM_001284330.1	NP_001271259.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	0					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CGGGGAGGGGTGAAGGTGGGG	0.632								DNA polymerases (catalytic subunits)					False	0	True	7:44112788	0	G	44112788	T	G	44112788	3	3	93	1	0	0	0	0	1	0	0	0	12275	1711	59	4		4	POLM	7	44112788	Missense_Mutation	SNP	T	TCGA-IB-7888-01A-11D-2154-08	35321870	44112788	115025875	37	29306											
CFTR	1080	broad.mit.edu	37	chr7	117171027	117171027	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gacccggataacaaggaggaAcgctctatcgcgatttatct	10	10	2	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:117171027A>C	ENST00000003084.6	+	4	480	c.348A>C	c.(346-348)gaA>gaC	p.E116D	CFTR_ENST00000454343.1_Missense_Mutation_p.E116D	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	116	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ACAAGGAGGAACGCTCTATCG	0.448									Cystic Fibrosis				False	0	False	7:117171027	0	C	117171027	A	C	117171027	3	2	93	1	0	0	0	0	1	0	0	0	3317	40	2	4	362	4	CFTR	7	117171027	Missense_Mutation	SNP	A	TCGA-IB-7888-01A-11D-2154-08	73058239	117171027	41967636	38	29307											
ASB15	142685	broad.mit.edu	37	chr7	123270139	123270139	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtctgcactagaagtAcagagagaatggccagaaat	11	7	1	5			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:123270139A>G	ENST00000451558.1	+	13	2081	c.1560A>G	c.(1558-1560)gtA>gtG	p.V520V	ASB15_ENST00000434204.1_Silent_p.V520V|ASB15_ENST00000451215.1_Silent_p.V520V|ASB15_ENST00000275699.3_Silent_p.V520V|ASB15_ENST00000540573.1_Silent_p.V520V			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	520					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CACTAGAAGTACAGAGAGAAT	0.368													False	0	False	7:123270139	0	G	123270139	A	G	123270139	2	3	93	1	0	0	0	0	0	0	0	1	1023	378	14	4		4	ASB15	7	123270139	Silent	SNP	A	TCGA-IB-7888-01A-11D-2154-08	6099112	123270139	35868524	39	29308											
HTR5A	3361	broad.mit.edu	37	chr7	154862765	154862765	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgggctttctggtggcGgcgacgttcgcctggaacct	15	11	1	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr7:154862765G>A	ENST00000287907.2	+	1	732	c.156G>A	c.(154-156)gcG>gcA	p.A52A	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_Silent_p.A83A|HTR5A-AS1_ENST00000395731.2_Silent_p.A83A	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	52						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCTGGTGGCGGCGACGTTCG	0.647													False	0	False	7:154862765	0	A	154862765	G	A	154862765	2	1	93	1	0	0	0	0	0	0	0	1	7500	1103	39	1		1	HTR5A	7	154862765	Silent	SNP	G	TCGA-IB-7888-01A-11D-2154-08	31592626	154862765	4275898	40	29309											
CSMD1	64478	broad.mit.edu	37	chr8	3165343	3165343	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatctgaccaccacattccGctgtagaagacacagagaga	10	11	1	5			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr8:3165343G>A	ENST00000520002.1	-	26	4382	c.3827C>T	c.(3826-3828)gCg>gTg	p.A1276V	CSMD1_ENST00000542608.1_Splice_Site_p.A1275V|CSMD1_ENST00000537824.1_Splice_Site_p.A1275V|CSMD1_ENST00000400186.3_Splice_Site_p.A1276V|CSMD1_ENST00000602557.1_Splice_Site_p.A1276V|CSMD1_ENST00000539096.1_Splice_Site_p.A1275V|CSMD1_ENST00000602723.1_Splice_Site_p.A1276V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1276	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCACATTCCGCTGTAGAAGA	0.448													False	0	False	8:3165343	0	A	3165343	G	A	3165343	5	1	93	1	0	0	0	0	0	0	1	0	3969	1101	38	1	7054	1	CSMD1	8	3165343	Splice_Site	SNP	G	TCGA-IB-7888-01A-11D-2154-08		3165343	143198679	41	29310											
PTK2B	2185	broad.mit.edu	37	chr8	27288476	27288476	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagtgcgtcatgaagttcttCaacactctcgccggcttcgc	10	13	4	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr8:27288476C>T	ENST00000397501.1	+	13	1561	c.753C>T	c.(751-753)ttC>ttT	p.F251F	PTK2B_ENST00000346049.5_Silent_p.F251F|PTK2B_ENST00000517339.1_Silent_p.F251F|PTK2B_ENST00000544172.1_Silent_p.F251F|PTK2B_ENST00000397497.4_5'UTR|PTK2B_ENST00000420218.2_Silent_p.F251F|PTK2B_ENST00000338238.4_Silent_p.F251F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	251	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGAAGTTCTTCAACACTCTCG	0.577													False	0	False	8:27288476	0	T	27288476	C	T	27288476	2	4	93	1	0	0	0	0	0	0	0	1	12840	825	29	2		2	PTK2B	8	27288476	Silent	SNP	C	TCGA-IB-7888-01A-11D-2154-08	24123133	27288476	119075546	42	29311											
DOCK8	81704	broad.mit.edu	37	chr9	328114	328114	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggccgcatcaagtcaggcGagatctgcagtcttctcagt	12	11	5	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:328114G>A	ENST00000432829.2	+	9	1099	c.783G>A	c.(781-783)gcG>gcA	p.A261A	DOCK8_ENST00000469391.1_Silent_p.A261A|DOCK8_ENST00000453981.1_Silent_p.A329A	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	329					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAAGTCAGGCGAGATCTGCAG	0.458													False	0	False	9:328114	0	A	328114	G	A	328114	2	1	93	1	0	0	0	0	0	0	0	1	4723	1045	37	1		1	DOCK8	9	328114	Silent	SNP	G	TCGA-IB-7888-01A-11D-2154-08		328114	140885317	43	29312											
MELK	9833	broad.mit.edu	37	chr9	36670999	36670999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgttttgtttcaggtgcCgctcagtggaattggatctc	11	7	3	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:36670999C>T	ENST00000543751.1	+	15	1559	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C	MELK_ENST00000298048.2_Missense_Mutation_p.R504C|MELK_ENST00000538311.1_Missense_Mutation_p.R310C|MELK_ENST00000545008.1_Missense_Mutation_p.R433C|MELK_ENST00000536329.1_Missense_Mutation_p.R433C|MELK_ENST00000536987.1_Missense_Mutation_p.R373C|MELK_ENST00000541717.1_Missense_Mutation_p.R463C|MELK_ENST00000536860.1_Missense_Mutation_p.R456C	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	504						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.R504C(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TTTCAGGTGCCGCTCAGTGGA	0.488													False	0	False	9:36670999	0	T	36670999	C	T	36670999	3	4	93	1	0	0	0	0	1	0	0	0	9537	652	23	1	1568	1	MELK	9	36670999	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	36342885	36670999	104542432	44	29313											
ASTN2	23245	broad.mit.edu	37	chr9	119188282	119188282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatagggcactgtttccaCgcggctctggatgtaggcac	13	10	1	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:119188282C>T	ENST00000313400.4	-	23	3968	c.3868G>A	c.(3868-3870)Gtg>Atg	p.V1290M	ASTN2_ENST00000341734.4_Missense_Mutation_p.V342M|ASTN2_ENST00000361209.2_Missense_Mutation_p.V1239M|ASTN2_ENST00000361477.3_Missense_Mutation_p.V342M|ASTN2_ENST00000373996.3_Missense_Mutation_p.V1286M|ASTN2_ENST00000288520.5_Missense_Mutation_p.V391M			O75129	ASTN2_HUMAN	astrotactin 2	1290						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTGTTTCCACGCGGCTCTGG	0.582													False	0	False	9:119188282	0	T	119188282	C	T	119188282	3	4	93	1	0	0	0	0	1	0	0	0	1069	536	19	1	196	1	ASTN2	9	119188282	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	82517283	119188282	22025149	45	29314											
OR1N2	138882	broad.mit.edu	37	chr9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgtcttctcctatgtccGcattttctgggctgtgtttg	10	10	3	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:125316158G>A	ENST00000373688.2	+	1	768	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	237			R -> C (in dbSNP:rs41316976).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517													False	0	False	9:125316158	0	A	125316158	G	A	125316158	3	1	93	1	0	0	0	0	1	0	0	0	11038	1087	38	1	712	1	OR1N2	9	125316158	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	6127876	125316158	15897273	46	29315											
GLE1	2733	broad.mit.edu	37	chr9	131295934	131295934	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaactggcagagaaatttgtGgtgagaaaccttgttgctag	12	5	0	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:131295934G>T	ENST00000309971.4	+	10	1561	c.1455G>T	c.(1453-1455)gtG>gtT	p.V485V	GLE1_ENST00000372770.4_Splice_Site_p.V485V|GLE1_ENST00000539582.1_Splice_Site_p.V231V|RP11-216B9.6_ENST00000434999.1_RNA	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	485					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AGAAATTTGTGGTGAGAAACC	0.443													False	0	False	9:131295934	0	T	131295934	G	T	131295934	5	4	93	1	0	0	0	0	0	0	1	0	6480	1362	47	3	1493	3	GLE1	9	131295934	Splice_Site	SNP	G	TCGA-IB-7888-01A-11D-2154-08	5979776	131295934	9917497	47	29316											
COL5A1	1289	broad.mit.edu	37	chr9	137658318	137658318	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agggtgtcacgggtatggacGgccagccggggccaaaagga	18	9	1	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr9:137658318G>C	ENST00000371817.3	+	22	2521	c.2107G>C	c.(2107-2109)Ggc>Cgc	p.G703R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	703	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGTATGGACGGCCAGCCGGG	0.542													False	0	False	9:137658318	0	C	137658318	G	C	137658318	3	2	93	1	0	0	0	0	1	0	0	0	3719	1116	39	5	2193	5	COL5A1	9	137658318	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	6362384	137658318	3555113	48	29317											
RET	5979	broad.mit.edu	37	chr10	43596003	43596003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtacgtccatgccctgcGggacgcccctgaggaggtgc	15	14	0	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:43596003G>A	ENST00000355710.3	+	2	402	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	RET_ENST00000340058.5_Missense_Mutation_p.R57Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	57					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CATGCCCTGCGGGACGCCCCT	0.622		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				False	0	True	10:43596003	0	A	43596003	G	A	43596003	3	1	93	1	0	0	0	0	1	0	0	0	13314	1116	39	1	176	1	RET	10	43596003	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08		43596003	91938744	49	29318											
CCDC147	159686	broad.mit.edu	37	chr10	106207500	106207500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaagcacgtcttggcccgCcagcctggacctgaggctgc	12	15	1	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:106207500C>T	ENST00000369704.3	+	16	2435	c.2301C>T	c.(2299-2301)cgC>cgT	p.R767R		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	767										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TCTTGGCCCGCCAGCCTGGAC	0.537													False	0	False	10:106207500	0	T	106207500	C	T	106207500	2	4	93	1	0	0	0	0	0	0	0	1	2801	726	26	2		2	CCDC147	10	106207500	Silent	SNP	C	TCGA-IB-7888-01A-11D-2154-08	62611497	106207500	29327247	50	29319											
CTBP2	1488	broad.mit.edu	37	chr10	126678151	126678151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggttgggagagggcgctTgggaaggatgtgccactgtc	19	7	0	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:126678151T>C	ENST00000309035.6	-	9	3024	c.2894A>G	c.(2893-2895)cAa>cGa	p.Q965R	CTBP2_ENST00000531469.1_Missense_Mutation_p.Q425R|CTBP2_ENST00000337195.5_Missense_Mutation_p.Q425R|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q493R|CTBP2_ENST00000494626.2_Missense_Mutation_p.Q425R|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q425R	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	425					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGAGGGCGCTTGGGAAGGATG	0.567													False	0	True	10:126678151	0	C	126678151	T	C	126678151	3	2	93	1	0	0	0	0	1	0	0	0	4023	1812	63	4	67	4	CTBP2	10	126678151	Missense_Mutation	SNP	T	TCGA-IB-7888-01A-11D-2154-08	20470651	126678151	8856596	51	29320											
MKI67	4288	broad.mit.edu	37	chr10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcctgctggtttgggcGtaagcatggctttccctgct	11	13	0	0	rs117795868	by1000genomes	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGCGTAAGCATGGC	0.463													False	0	False	10:129906577	0	A	129906577	G	A	129906577	3	1	93	1	0	0	0	0	1	0	0	0	9665	1145	40	1	6255	1	MKI67	10	129906577	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	3228426	129906577	5628170	52	29321											
TSPAN18	90139	broad.mit.edu	37	chr11	44931325	44931325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccggcttccgggagatcGtggctgccaatcctctgctc	11	16	1	1	rs138512957		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:44931325G>A	ENST00000340160.3	+	4	372	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	TSPAN18_ENST00000520358.2_Missense_Mutation_p.V45M	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	45						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						CCGGGAGATCGTGGCTGCCAA	0.697													False	0	False	11:44931325	0	A	44931325	G	A	44931325	3	1	93	1	0	0	0	0	1	0	0	0	16725	1145	40	1	139	1	TSPAN18	11	44931325	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08		44931325	90075191	53	29322											
CHST1	8534	broad.mit.edu	37	chr11	45671352	45671352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcacctgctggcaggcGttctgggcaaaggccacgat	14	13	1	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:45671352G>A	ENST00000308064.2	-	4	1792	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	374					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCTGGCAGGCGTTCTGGGCAA	0.662													False	0	False	11:45671352	0	A	45671352	G	A	45671352	2	1	93	1	0	0	0	0	0	0	0	1	3420	1136	40	1		1	CHST1	11	45671352	Silent	SNP	G	TCGA-IB-7888-01A-11D-2154-08	740027	45671352	89335164	54	29323											
OR8K5	219453	broad.mit.edu	37	chr11	55927158	55927158	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgtaggacactaagactatCagaaaggaggagatcaaatt	10	5	2	3			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:55927158C>T	ENST00000313447.1	-	1	635	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CTAAGACTATCAGAAAGGAGG	0.378													False	0	False	11:55927158	0	T	55927158	C	T	55927158	2	4	93	1	0	0	0	0	0	0	0	1	11313	813	29	2		2	OR8K5	11	55927158	Silent	SNP	C	TCGA-IB-7888-01A-11D-2154-08	10255806	55927158	79079358	55	29324											
OR1S1	219959	broad.mit.edu	37	chr11	57982249	57982249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcctttcttcagatcggCagaaatatgcatcaaggaaa	8	8	3	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:57982249C>T	ENST00000309433.6	+	1	33	c.33C>T	c.(31-33)ggC>ggT	p.G11G		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TTCAGATCGGCAGAAATATGC	0.393													False	0	False	11:57982249	0	T	57982249	C	T	57982249	2	4	93	1	0	0	0	0	0	0	0	1	11040	697	25	2		2	OR1S1	11	57982249	Silent	SNP	C	TCGA-IB-7888-01A-11D-2154-08	2055091	57982249	77024267	56	29325											
INCENP	3619	broad.mit.edu	37	chr11	61897787	61897787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctcaggattgcgcaggtctCccctggcccacgggactcgc	13	16	2	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:61897787C>T	ENST00000394818.3	+	4	990	c.788C>T	c.(787-789)tCc>tTc	p.S263F	INCENP_ENST00000278849.4_Missense_Mutation_p.S263F	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	263					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCGCAGGTCTCCCCTGGCCCA	0.652													False	0	True	11:61897787	0	T	61897787	C	T	61897787	3	4	93	1	0	0	0	0	1	0	0	0	7783	855	30	2	798	2	INCENP	11	61897787	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	3915538	61897787	73108729	57	29326											
ZBTB3	79842	broad.mit.edu	37	chr11	62519604	62519604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacaaaatctttaggtggCcctccaccactgctgctctg	7	13	2	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:62519604C>T	ENST00000394807.3	-	2	1808	c.1683G>A	c.(1681-1683)ggG>ggA	p.G561G		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						CTTTAGGTGGCCCTCCACCAC	0.537													False	0	True	11:62519604	0	T	62519604	C	T	62519604	2	4	93	1	0	0	0	0	0	0	0	1	17617	726	26	2		2	ZBTB3	11	62519604	Silent	SNP	C	TCGA-IB-7888-01A-11D-2154-08	621817	62519604	72486912	58	29327											
NOX4	50507	broad.mit.edu	37	chr11	89106611	89106611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctacatacctgtccagtctCctactattttaagatgaacc	4	12	2	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:89106611C>T	ENST00000535633.1	-	12	1362	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	NOX4_ENST00000532825.1_Missense_Mutation_p.G351E|NOX4_ENST00000343727.5_Missense_Mutation_p.G351E|NOX4_ENST00000542487.1_Missense_Mutation_p.G351E|NOX4_ENST00000534731.1_Missense_Mutation_p.G375E|NOX4_ENST00000527626.1_Missense_Mutation_p.G209E|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Missense_Mutation_p.G68E|NOX4_ENST00000528341.1_Missense_Mutation_p.G350E|NOX4_ENST00000413594.2_Missense_Mutation_p.G396E|NOX4_ENST00000375979.3_Missense_Mutation_p.G68E|NOX4_ENST00000263317.4_Missense_Mutation_p.G375E|NOX4_ENST00000527956.1_Missense_Mutation_p.G351E|NOX4_ENST00000424319.1_Missense_Mutation_p.G351E	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	375	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.G375E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TGTCCAGTCTCCTACTATTTT	0.279													False	0	False	11:89106611	0	T	89106611	C	T	89106611	3	4	93	1	0	0	0	0	1	0	0	0	10626	855	30	2	640	2	NOX4	11	89106611	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	26587007	89106611	45899905	59	29328											
DDX10	1662	broad.mit.edu	37	chr11	108546412	108546412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagatgtacttggagcgGccaaaactggatctggcaag	13	7	1	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:108546412G>A	ENST00000526794.1	+	3	369	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	DDX10_ENST00000322536.3_Missense_Mutation_p.A113T			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	113	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.A113T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ACTTGGAGCGGCCAAAACTGG	0.438			T	NUP98	AML*								False	0	False	11:108546412	0	A	108546412	G	A	108546412	3	1	93	1	0	0	0	0	1	0	0	0	4367	1203	42	2	347	2	DDX10	11	108546412	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	19439801	108546412	26460104	60	29329											
SIK3	23387	broad.mit.edu	37	chr11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-													ggtattcttgctgttgctgcTgttgctgctgctgctgccgt					rs539858	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q|SIK3_ENST00000488337.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596													False	1	True	11:116729011	0	-	116729013	TGT	-	116729011	7	5	93	1	0	1	0	1	0	0	0	0	14400	1580	55	0	955	0	SIK3	11	116729011	In_Frame_Del	DEL	TGT	TCGA-IB-7888-01A-11D-2154-08	8182599	116729011	18277505	61	29330											
HMBS	3145	broad.mit.edu	37	chr11	118955763	118955763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtctggtaacggcaatgCggctgcaacggcggtgagtg	16	9	1	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr11:118955763C>T	ENST00000278715.3	+	1	171	c.20C>T	c.(19-21)gCg>gTg	p.A7V	HMBS_ENST00000542729.1_5'UTR|HMBS_ENST00000442944.2_5'UTR|HMBS_ENST00000543090.1_Missense_Mutation_p.A7V|HMBS_ENST00000537841.1_5'UTR|HMBS_ENST00000544387.1_Missense_Mutation_p.A7V	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	7					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		AACGGCAATGCGGCTGCAACG	0.667													False	0	False	11:118955763	0	T	118955763	C	T	118955763	3	4	93	1	0	0	0	0	1	0	0	0	7266	768	27	1	22	1	HMBS	11	118955763	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	2226752	118955763	16050753	62	29331											
DUSP16	80824	broad.mit.edu	37	chr12	12629995	12629995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaatagacttggtctccGcaagtgggcagctggctgca	13	10	1	2	rs145763524		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr12:12629995G>A	ENST00000228862.2	-	7	2401	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	590					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTTGGTCTCCGCAAGTGGGCA	0.562													False	0	False	12:12629995	0	A	12629995	G	A	12629995	2	1	93	1	0	0	0	0	0	0	0	1	4846	1079	38	1		1	DUSP16	12	12629995	Silent	SNP	G	TCGA-IB-7888-01A-11D-2154-08		12629995	121221900	63	29332											
TPTE2	93492	broad.mit.edu	37	chr13	20048175	20048175	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaaaattaggtcggcaaggaGgagagtgacatccagtaaga	14	5	0	3			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr13:20048175G>C	ENST00000400230.2	-	6	315	c.271C>G	c.(271-273)Ctc>Gtc	p.L91V	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.L91V|TPTE2_ENST00000382978.1_Missense_Mutation_p.L91V|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Missense_Mutation_p.L54V|TPTE2_ENST00000382975.4_Missense_Mutation_p.L91V|TPTE2_ENST00000390680.2_Missense_Mutation_p.L54V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	91						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCGGCAAGGAGGAGAGTGACA	0.294													False	0	False	13:20048175	0	C	20048175	G	C	20048175	3	2	93	1	0	0	0	0	1	0	0	0	16514	1000	35	5	1357	5	TPTE2	13	20048175	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08		20048175	95121703	64	29333											
RCBTB2	1102	broad.mit.edu	37	chr13	49070346	49070346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgcatcatacttcaccGcagccgagagcagagcgatg	11	13	2	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr13:49070346G>A	ENST00000344532.3	-	14	1919	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	RCBTB2_ENST00000430805.2_Missense_Mutation_p.A504V|RCBTB2_ENST00000544492.1_Missense_Mutation_p.A225V	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	499	BTB 2.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ATACTTCACCGCAGCCGAGAG	0.478													False	0	False	13:49070346	0	A	49070346	G	A	49070346	3	1	93	1	0	0	0	0	1	0	0	0	13251	1087	38	1	167	1	RCBTB2	13	49070346	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	29022171	49070346	66099532	65	29334											
TBC1D4	9882	broad.mit.edu	37	chr13	75886933	75886933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcaaccctgaggaaaatgCgctgccgccaggagatccgg	13	12	0	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr13:75886933C>T	ENST00000377636.3	-	13	2670	c.2324G>A	c.(2323-2325)cGc>cAc	p.R775H	TBC1D4_ENST00000377625.2_Missense_Mutation_p.R712H|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.R767H	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	775						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAGGAAAATGCGCTGCCGCCA	0.522													False	0	False	13:75886933	0	T	75886933	C	T	75886933	3	4	93	1	0	0	0	0	1	0	0	0	15704	768	27	1	1608	1	TBC1D4	13	75886933	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	26816587	75886933	39282945	66	29335											
STRN3	29966	broad.mit.edu	37	chr14	31376184	31376184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtaattgattttttatgCcactataagcaagaccccaa	5	9	0	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr14:31376184C>T	ENST00000355683.5	-	12	1750	c.1535G>A	c.(1534-1536)gGc>gAc	p.G512D	STRN3_ENST00000357479.5_Missense_Mutation_p.G596D	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	596					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ATTTTTTATGCCACTATAAGC	0.368													False	0	False	14:31376184	0	T	31376184	C	T	31376184	3	4	93	1	0	0	0	0	1	0	0	0	15412	739	26	2	626	2	STRN3	14	31376184	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08		31376184	75973356	67	29336											
AHNAK2	113146	broad.mit.edu	37	chr14	105415037	105415037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctatttcggggcccttgaGgtccactttgggcaccttga	12	11	1	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr14:105415037G>T	ENST00000333244.5	-	7	6870	c.6751C>A	c.(6751-6753)Ctc>Atc	p.L2251I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2251						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCCTTGAGGTCCACTTTG	0.602													False	0	False	14:105415037	0	T	105415037	G	T	105415037	3	4	93	1	0	0	0	0	1	0	0	0	415	1000	35	3	10640	3	AHNAK2	14	105415037	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	74038853	105415037	1934503	68	29337											
TGM7	116179	broad.mit.edu	37	chr15	43579655	43579655	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtcatcgttgctgttgaTctgcagaggacagacaggtg	13	7	2	3			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr15:43579655T>C	ENST00000452443.2	-	6	692	c.688A>G	c.(688-690)Atc>Gtc	p.I230V		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	230					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTGCTGTTGATCTGCAGAGGA	0.597													False	0	False	15:43579655	0	C	43579655	T	C	43579655	5	2	93	1	0	0	0	0	0	0	1	0	15917	1449	50	4	1476	4	TGM7	15	43579655	Splice_Site	SNP	T	TCGA-IB-7888-01A-11D-2154-08		43579655	58951737	69	29338											
PYGO1	26108	broad.mit.edu	37	chr15	55838323	55838323	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacagccccatactgcagaTgcttctgcagttaagaggcc	9	13	2	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr15:55838323T>C	ENST00000302000.6	-	3	1252	c.1158A>G	c.(1156-1158)gcA>gcG	p.A386A	PYGO1_ENST00000563719.1_Silent_p.A386A	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	386					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		ATACTGCAGATGCTTCTGCAG	0.458													False	0	False	15:55838323	0	C	55838323	T	C	55838323	2	2	93	1	0	0	0	0	0	0	0	1	12942	1451	51	4		4	PYGO1	15	55838323	Silent	SNP	T	TCGA-IB-7888-01A-11D-2154-08	12258668	55838323	46693069	70	29339											
ALDH1A3	220	broad.mit.edu	37	chr15	101438319	101438319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttaaagaagctgcgtcccGgagcaatctgaagcgggtga	15	8	1	3	rs147665432		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr15:101438319G>A	ENST00000329841.5	+	8	1344	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.R164Q|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	271					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	GCTGCGTCCCGGAGCAATCTG	0.557													False	0	True	15:101438319	0	A	101438319	G	A	101438319	3	1	93	1	0	0	0	0	1	0	0	0	492	1116	39	1	842	1	ALDH1A3	15	101438319	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	45599996	101438319	1093073	71	29340											
TPSD1	23430	broad.mit.edu	37	chr16	1306311	1306311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgctccccagatgctgagCctgctgctgctggcgctgcc	12	16	0	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:1306311C>T	ENST00000211076.3	+	1	178	c.30C>T	c.(28-30)agC>agT	p.S10S	TPSD1_ENST00000397534.2_Silent_p.S3S	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	10					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				AGATGCTGAGCCTGCTGCTGC	0.682													False	0	True	16:1306311	0	T	1306311	C	T	1306311	2	4	93	1	0	0	0	0	0	0	0	1	16508	738	26	2		2	TPSD1	16	1306311	Silent	SNP	C	TCGA-IB-7888-01A-11D-2154-08		1306311	89048442	72	29341											
OR1F1	4992	broad.mit.edu	37	chr16	3254568	3254568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatttcgttttcatgttcGtggacatggacaatttcctc	8	8	1	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:3254568G>A	ENST00000304646.2	+	1	322	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TTTCATGTTCGTGGACATGGA	0.502													False	0	False	16:3254568	0	A	3254568	G	A	3254568	3	1	93	1	0	0	0	0	1	0	0	0	11024	1145	40	1	324	1	OR1F1	16	3254568	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	1948257	3254568	87100185	73	29342											
KIAA0430	9665	broad.mit.edu	37	chr16	15728761	15728761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatttggccagactttagCcgcatcgattatgctatttc	7	9	0	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:15728761C>T	ENST00000396368.3	-	4	1065	c.859G>A	c.(859-861)Gct>Act	p.A287T	KIAA0430_ENST00000602337.1_Missense_Mutation_p.A287T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.A109T|KIAA0430_ENST00000540441.2_Missense_Mutation_p.A287T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.A287T|KIAA0430_ENST00000548025.1_Missense_Mutation_p.A287T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	286						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CAGACTTTAGCCGCATCGATT	0.418													False	0	False	16:15728761	0	T	15728761	C	T	15728761	3	4	93	1	0	0	0	0	1	0	0	0	8227	739	26	2	4468	2	KIAA0430	16	15728761	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	12474193	15728761	74625992	74	29343											
OGFOD1	55239	broad.mit.edu	37	chr16	56509440	56509441	+	Frame_Shift_Ins	INS	-	-	GTTTTTTT													tgggagccagaatatggcggINSttttacttcttacattgcca					rs147207036	by1000genomes	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:56509440_56509441insGTTTTTTT	ENST00000566157.1	+	12	1553_1554	c.1430_1431insGTTTTTTT	c.(1429-1434)ggttttfs	p.-478fs	OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.-435fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1								iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GAATATGGCGGTTTTACTTCTT	0.366													False	0	True	16:56509440	0	GTTTTTTT	56509441	-	GTTTTTTT	56509440	7	5	93	1	0	1	1	0	0	0	0	0	10909	1261	44	0	1476	0	OGFOD1	16	56509440	Frame_Shift_Ins	INS	-	TCGA-IB-7888-01A-11D-2154-08	40780679	56509440	33845313	75	29344											
SLC12A3	0	broad.mit.edu	37	chr16	56920970	56920970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctactcggatgtcattgccGaggacctccgcagaggcgtc	12	13	2	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:56920970G>A	ENST00000438926.2	+	17	2172	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	SLC12A3_ENST00000566786.1_Missense_Mutation_p.E714K|SLC12A3_ENST00000262502.5_Missense_Mutation_p.E714K|SLC12A3_ENST00000563236.1_Missense_Mutation_p.E715K	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	715					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGTCATTGCCGAGGACCTCCG	0.587													False	0	False	16:56920970	0	A	56920970	G	A	56920970	3	1	93	1	0	0	0	0	1	0	0	0	14465	1059	37	1	2209	1	SLC12A3	16	56920970	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	411530	56920970	33433783	76	29345											
WDR59	79726	broad.mit.edu	37	chr16	74949826	74949827	+	In_Frame_Ins	INS	-	-	GAG													gaattcctgctgcaaggtctINSgaggcagccccagttgatct							TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr16:74949826_74949827insGAG	ENST00000262144.6	-	13	1295_1296	c.1165_1166insCTC	c.(1165-1167)cag>cCTCag	p.388_389insP		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	388										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CTGCAAGGTCTGAGGCAGCCCC	0.45													False	1	False	16:74949826	0	GAG	74949827	-	GAG	74949826	7	5	93	1	0	1	1	0	0	0	0	0	17392	1580	55	0	1814	0	WDR59	16	74949826	In_Frame_Ins	INS	-	TCGA-IB-7888-01A-11D-2154-08	18028856	74949826	15404927	77	29346											
TP53	7157	broad.mit.edu	37	chr17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccactcggataagatgctGaggaggggccagacctaaga	13	9	0	4			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATAAGATGCTGAGGAGGGGCC	0.557		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)			False	0	False	17:7578275	0	A	7578275	G	A	7578275	4	1	93	1	0	0	0	0	0	1	0	0	16464	1299	45	2	720	2	TP53	17	7578275	Nonsense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08		7578275	73616935	78	29347											
DNAH2	146754	broad.mit.edu	37	chr17	7680922	7680922	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtcaattcctttgactgGctcagccaacttcggttcta	8	11	3	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:7680922G>A	ENST00000572933.1	+	33	6677	c.5217G>A	c.(5215-5217)tgG>tgA	p.W1739*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1739*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1739	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTTGACTGGCTCAGCCAAC	0.478													False	0	False	17:7680922	0	A	7680922	G	A	7680922	4	1	93	1	0	0	0	0	0	1	0	0	4632	1212	42	2	5343	2	DNAH2	17	7680922	Nonsense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	102647	7680922	73514288	79	29348											
DNAH2	146754	broad.mit.edu	37	chr17	7721648	7721648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtcggctgttgatgcGcattggcgataaggaggtgg	19	5	0	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:7721648G>A	ENST00000572933.1	+	69	11866	c.10406G>A	c.(10405-10407)cGc>cAc	p.R3469H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3469H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3469	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTTGATGCGCATTGGCGAT	0.567													False	0	False	17:7721648	0	A	7721648	G	A	7721648	3	1	93	1	0	0	0	0	1	0	0	0	4632	1087	38	1	10676	1	DNAH2	17	7721648	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	40726	7721648	73473562	80	29349											
DNAH9	1770	broad.mit.edu	37	chr17	11650990	11650990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctatcagatcatgaaaCggcgccccgtctggactgac	10	13	3	4			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:11650990C>T	ENST00000262442.4	+	32	6585	c.6517C>T	c.(6517-6519)Cgg>Tgg	p.R2173W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2173W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2173W(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATCATGAAACGGCGCCCCGT	0.542													False	0	True	17:11650990	0	T	11650990	C	T	11650990	3	4	93	1	0	0	0	0	1	0	0	0	4638	527	19	1	6643	1	DNAH9	17	11650990	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	3929342	11650990	69544220	81	29350											
PIGS	94005	broad.mit.edu	37	chr17	26881272	26881272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctttctccaggacttgCgggtctccaggaagatcttg	12	11	3	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:26881272C>T	ENST00000308360.7	-	12	2009	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	PIGS_ENST00000395346.2_Missense_Mutation_p.R537H|PIGS_ENST00000543734.1_Missense_Mutation_p.R484H	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	545					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCAGGACTTGCGGGTCTCCAG	0.547													False	0	True	17:26881272	0	T	26881272	C	T	26881272	3	4	93	1	0	0	0	0	1	0	0	0	11967	768	27	1	37	1	PIGS	17	26881272	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	15230282	26881272	54313938	82	29351											
KRTAP4-12	83755	broad.mit.edu	37	chr17	39280266	39280266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacacacagcagctggggcGgcagcaggtggtcctgcagc	17	12	0	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:39280266G>A	ENST00000394014.1	-	1	153	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	37	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGGGCGGCAGCAGGTG	0.672													False	0	False	17:39280266	0	A	39280266	G	A	39280266	3	1	93	1	0	0	0	0	1	0	0	0	8601	1116	39	1	500	1	KRTAP4-12	17	39280266	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	12398994	39280266	41914944	83	29352											
HAP1	9001	broad.mit.edu	37	chr17	39883349	39883349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatcatcctccttagagaCgttctgagctcctcagccag	9	13	3	3			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:39883349C>T	ENST00000393939.2	-	8	1257	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	HAP1_ENST00000347901.4_Silent_p.T441T|HAP1_ENST00000341193.5_Silent_p.T424T|HAP1_ENST00000310778.5_Silent_p.T493T|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	418	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCCTTAGAGACGTTCTGAGCT	0.577													False	0	False	17:39883349	0	T	39883349	C	T	39883349	2	4	93	1	0	0	0	0	0	0	0	1	7000	523	19	1		1	HAP1	17	39883349	Silent	SNP	C	TCGA-IB-7888-01A-11D-2154-08	603083	39883349	41311861	84	29353											
TLK2	11011	broad.mit.edu	37	chr17	60689781	60689781	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tcgacgatgcttggcctaccGaaaggaggaccgcattgatg	13	10	0	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr17:60689781G>C	ENST00000582809.1	+	23	2364	c.1661G>C	c.(1660-1662)cGa>cCa	p.R554P	TLK2_ENST00000326270.9_Missense_Mutation_p.R725P|TLK2_ENST00000343388.7_Missense_Mutation_p.R671P|TLK2_ENST00000346027.5_Missense_Mutation_p.R703P|TLK2_ENST00000542523.1_Missense_Mutation_p.R671P			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	725	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTGGCCTACCGAAAGGAGGAC	0.537													False	0	True	17:60689781	0	C	60689781	G	C	60689781	3	2	93	1	0	0	0	0	1	0	0	0	16026	1058	37	5	2190	5	TLK2	17	60689781	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	20806432	60689781	20505429	85	29354											
CLEC4M	10332	broad.mit.edu	37	chr19	7830661	7830661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agatctaccaggagctgaccCagctgaaggctgcagtgggt	14	10	1	3			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:7830661C>G	ENST00000327325.5	+	4	470	c.352C>G	c.(352-354)Cag>Gag	p.Q118E	CLEC4M_ENST00000248228.4_Missense_Mutation_p.Q118E|CLEC4M_ENST00000596363.1_Missense_Mutation_p.Q90E|CLEC4M_ENST00000359059.5_Missense_Mutation_p.Q97E|CLEC4M_ENST00000334806.5_Missense_Mutation_p.Q90E|CLEC4M_ENST00000595496.1_Missense_Mutation_p.Q97E|CLEC4M_ENST00000596707.1_Missense_Mutation_p.Q97E|CLEC4M_ENST00000357361.2_Missense_Mutation_p.Q118E|CLEC4M_ENST00000394122.2_Missense_Mutation_p.Q106E|CLEC4M_ENST00000597522.1_Missense_Mutation_p.Q118E	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	118	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GGAGCTGACCCAGCTGAAGGC	0.562													False	0	True	19:7830661	0	G	7830661	C	G	7830661	3	3	93	1	0	0	0	0	1	0	0	0	3541	595	21	5	387	5	CLEC4M	19	7830661	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08		7830661	51298322	86	29355											
MUC16	94025	broad.mit.edu	37	chr19	8999497	8999498	+	In_Frame_Ins	INS	-	-	TCC													tgctctctgtccagtccaggINSgcttttgggatcagggcggt							TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:8999497_8999498insTCC	ENST00000397910.4	-	56	40880_40881	c.40677_40678insGGA	c.(40675-40680)agccct>agcGGAcct	p.13559_13560SP>SGP	MUC16_ENST00000380951.5_In_Frame_Ins_p.200_201SP>SGP	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13561	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCAGTCCAGGGCTTTTGGGAT	0.584													False	0	True	19:8999497	0	TCC	8999498	-	TCC	8999497	7	5	93	1	0	1	1	0	0	0	0	0	10040	1232	43	0	2961	0	MUC16	19	8999497	In_Frame_Ins	INS	-	TCGA-IB-7888-01A-11D-2154-08	1168836	8999497	50129486	87	29356											
OR7D4	125958	broad.mit.edu	37	chr19	9325369	9325369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgggagtcagagctgaCggccagaatgatgagcaggt	18	6	1	5	rs112089905		TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:9325369C>T	ENST00000308682.2	-	1	173	c.145G>A	c.(145-147)Gtc>Atc	p.V49I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCAGAGCTGACGGCCAGAATG	0.552													False	0	False	19:9325369	0	T	9325369	C	T	9325369	3	4	93	1	0	0	0	0	1	0	0	0	11288	536	19	1	797	1	OR7D4	19	9325369	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	325872	9325369	49803614	88	29357											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	93	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-IB-7888-01A-11D-2154-08	4758298	14083667	45045316	89	29358											
CILP2	148113	broad.mit.edu	37	chr19	19655205	19655205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccccgagacctcacctcGgcggcgtctgcccccagtga	11	19	2	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:19655205G>A	ENST00000586018.1	+	8	1971	c.1869G>A	c.(1867-1869)tcG>tcA	p.S623S	CILP2_ENST00000291495.5_Silent_p.S617S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	617						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCTCACCTCGGCGGCGTCTG	0.697													False	0	False	19:19655205	0	A	19655205	G	A	19655205	2	1	93	1	0	0	0	0	0	0	0	1	3453	1103	39	1		1	CILP2	19	19655205	Silent	SNP	G	TCGA-IB-7888-01A-11D-2154-08	5571538	19655205	39473778	90	29359											
NPHS1	4868	broad.mit.edu	37	chr19	36322199	36322199	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggccacccccacttaccGtggagctctgagtgtcccgc	11	17	1	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:36322199G>A	ENST00000378910.5	-	26	3385	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	NPHS1_ENST00000353632.6_Splice_Site_p.T1089M	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1129					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCACTTACCGTGGAGCTCTG	0.607													False	0	False	19:36322199	0	A	36322199	G	A	36322199	5	1	93	1	0	0	0	0	0	0	1	0	10650	1159	40	1	355	1	NPHS1	19	36322199	Splice_Site	SNP	G	TCGA-IB-7888-01A-11D-2154-08	16666994	36322199	22806784	91	29360											
TYROBP	7305	broad.mit.edu	37	chr19	36398352	36398352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctagccccactcaccctcCgcagcccctcgcccccgagg	8	23	1	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:36398352C>T	ENST00000585901.2	-	3	243	c.225G>A	c.(223-225)gcG>gcA	p.A75A	TYROBP_ENST00000544690.2_Silent_p.A64A|TYROBP_ENST00000589517.1_Silent_p.A75A|TYROBP_ENST00000262629.4_Silent_p.A75A|TYROBP_ENST00000424586.3_Silent_p.A64A			O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	75					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACTCACCCTCCGCAGCCCCTC	0.632													False	0	False	19:36398352	0	T	36398352	C	T	36398352	2	4	93	1	0	0	0	0	0	0	0	1	16899	639	23	1		1	TYROBP	19	36398352	Silent	SNP	C	TCGA-IB-7888-01A-11D-2154-08	76153	36398352	22730631	92	29361											
CYP2F1	1572	broad.mit.edu	37	chr19	41633864	41633864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctctttctgtacctcacCgccatcctgcagagcttttc	7	15	3	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:41633864C>T	ENST00000331105.2	+	10	1425	c.1353C>T	c.(1351-1353)acC>acT	p.T451T		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	451					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGTACCTCACCGCCATCCTGC	0.647													False	0	False	19:41633864	0	T	41633864	C	T	41633864	2	4	93	1	0	0	0	0	0	0	0	1	4196	639	23	1		1	CYP2F1	19	41633864	Silent	SNP	C	TCGA-IB-7888-01A-11D-2154-08	5235512	41633864	17495119	93	29362											
AXL	558	broad.mit.edu	37	chr19	41745081	41745081	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcctaggtgctaatggacAtagggctaaggcaagaggtg	14	8	0	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:41745081A>G	ENST00000301178.4	+	9	1337	c.1147A>G	c.(1147-1149)Ata>Gta	p.I383V	AXL_ENST00000593513.1_Missense_Mutation_p.I115V|AXL_ENST00000359092.3_Missense_Mutation_p.I383V	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	383	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCTAATGGACATAGGGCTAAG	0.572													False	0	False	19:41745081	0	G	41745081	A	G	41745081	3	3	93	1	0	0	0	0	1	0	0	0	1242	217	8	4	1181	4	AXL	19	41745081	Missense_Mutation	SNP	A	TCGA-IB-7888-01A-11D-2154-08	111217	41745081	17383902	94	29363											
MEGF8	1954	broad.mit.edu	37	chr19	42873053	42873053	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcctgcccccctgaggaCgagtgtgcaaacgggcacca	12	15	0	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:42873053C>T	ENST00000334370.4	+	36	6974	c.6339C>T	c.(6337-6339)gaC>gaT	p.D2113D	MEGF8_ENST00000251268.6_Silent_p.D2180D	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2180	PSI 6.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCCTGAGGACGAGTGTGCAA	0.612													False	0	False	19:42873053	0	T	42873053	C	T	42873053	2	4	93	1	0	0	0	0	0	0	0	1	9530	535	19	1		1	MEGF8	19	42873053	Silent	SNP	C	TCGA-IB-7888-01A-11D-2154-08	1127972	42873053	16255930	95	29364											
ZNF155	7711	broad.mit.edu	37	chr19	44495748	44495748	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggtcttcactgaggaggagCtggggctgctggaccctgcc	16	11	2	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:44495748C>G	ENST00000270014.2	+	3	192	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V|ZNF155_ENST00000407951.2_Missense_Mutation_p.L33V	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	22	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TGAGGAGGAGCTGGGGCTGCT	0.532													False	0	True	19:44495748	0	G	44495748	C	G	44495748	3	3	93	1	0	0	0	0	1	0	0	0	17819	796	28	5	70	5	ZNF155	19	44495748	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	1622695	44495748	14633235	96	29365											
CD33	945	broad.mit.edu	37	chr19	51728620	51728620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttcatggttactggttcCgggaaggagccattatatcc	11	9	1	0	rs138300409	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:51728620C>T	ENST00000262262.4	+	2	205	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.R62W|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	62	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TTACTGGTTCCGGGAAGGAGC	0.537													False	0	True	19:51728620	0	T	51728620	C	T	51728620	3	4	93	1	0	0	0	0	1	0	0	0	3028	643	23	1	190	1	CD33	19	51728620	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	7232872	51728620	7400363	97	29366											
ZNF480	147657	broad.mit.edu	37	chr19	52825191	52825191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatccatactgtagagaaaCcttacaaatgtaattcatgc	5	8	1	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:52825191C>T	ENST00000595962.1	+	5	754	c.688C>T	c.(688-690)Cct>Tct	p.P230S	ZNF480_ENST00000334564.7_Missense_Mutation_p.P187S|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.P153S|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGTAGAGAAACCTTACAAATG	0.358													False	0	True	19:52825191	0	T	52825191	C	T	52825191	3	4	93	1	0	0	0	0	1	0	0	0	18018	507	18	2	702	2	ZNF480	19	52825191	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	1096571	52825191	6303792	98	29367											
ZNF578	147660	broad.mit.edu	37	chr19	53015104	53015104	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aagtgtaatgagtgtcacaaGaccttcagtcacaggtcatc	9	9	4	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:53015104G>C	ENST00000421239.2	+	6	1714	c.1470G>C	c.(1468-1470)aaG>aaC	p.K490N	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGTGTCACAAGACCTTCAGTC	0.393													False	0	False	19:53015104	0	C	53015104	G	C	53015104	3	2	93	1	0	0	0	0	1	0	0	0	18093	933	33	5	1480	5	ZNF578	19	53015104	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	189913	53015104	6113879	99	29368											
VN1R4	317703	broad.mit.edu	37	chr19	53770125	53770125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggctgaagtgttcaccagtAaactattgggattatccaaa	9	7	1	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:53770125A>G	ENST00000311170.4	-	1	847	c.794T>C	c.(793-795)tTa>tCa	p.L265S		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	265					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GTTCACCAGTAAACTATTGGG	0.453										HNSCC(26;0.072)			False	0	True	19:53770125	0	G	53770125	A	G	53770125	3	3	93	1	0	0	0	0	1	0	0	0	17264	372	13	4	114	4	VN1R4	19	53770125	Missense_Mutation	SNP	A	TCGA-IB-7888-01A-11D-2154-08	755021	53770125	5358858	100	29369											
LILRB2	0	broad.mit.edu	37	chr19	54782813	54782813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcccagcctggggctgcCggccagggagctggcgaagg	19	12	0	1	rs141001610	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr19:54782813C>T	ENST00000391748.1	-	6	936	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	LILRB2_ENST00000391746.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270Q|LILRB2_ENST00000434421.1_Missense_Mutation_p.R154Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.R270Q	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	270	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGGGCTGCCGGCCAGGGAG	0.627													False	0	False	19:54782813	0	T	54782813	C	T	54782813	3	4	93	1	0	0	0	0	1	0	0	0	8843	652	23	1	1023	1	LILRB2	19	54782813	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	1012688	54782813	4346170	101	29370											
ZCCHC3	85364	broad.mit.edu	37	chr20	279077	279077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcgacgtgctggccgtgCcggtgaaagtgaccgacagg	16	11	0	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr20:279077C>T	ENST00000382352.3	+	1	1341	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	284							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTGGCCGTGCCGGTGAAAGT	0.627													False	0	False	20:279077	0	T	279077	C	T	279077	3	4	93	1	0	0	0	0	1	0	0	0	17672	739	26	2	852	2	ZCCHC3	20	279077	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08		279077	62746443	102	29371											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493321	20493321	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgagcattttggcgcaaAatgacctcaatgatttcctt	7	9	2	3			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr20:20493321A>C	ENST00000202677.7	-	32	4699	c.4692T>G	c.(4690-4692)atT>atG	p.I1564M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTTGGCGCAAAATGACCTCAA	0.473													False	0	True	20:20493321	0	C	20493321	A	C	20493321	3	2	93	1	0	0	0	0	1	0	0	0	13093	10	1	4	961	4	RALGAPA2	20	20493321	Missense_Mutation	SNP	A	TCGA-IB-7888-01A-11D-2154-08	20214244	20493321	42532199	103	29372											
KCNB1	3745	broad.mit.edu	37	chr20	47990860	47990860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactcagagaagttattgaCgatgatggggatgggaagag	16	3	1	4			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr20:47990860C>T	ENST00000371741.4	-	2	1403	c.1237G>A	c.(1237-1239)Gtc>Atc	p.V413I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	413					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGTTATTGACGATGATGGGG	0.507													False	0	False	20:47990860	0	T	47990860	C	T	47990860	3	4	93	1	0	0	0	0	1	0	0	0	8062	536	19	1	1343	1	KCNB1	20	47990860	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	27497539	47990860	15034660	104	29373											
BAGE2	85319	broad.mit.edu	37	chr21	11058327	11058327	+	RNA	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaaatgcacatcgctgAaaggggtaaaggagagaaat	11	5	0	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr21:11058327A>T	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACATCGCTGAAAGGGGTAAA	0.378													False	0	True	21:11058327	0	T	11058327	A	T	11058327	1	4	93	0	1	0	0	0	0	0	0	0	1296	261	9	5		5	BAGE2	21	11058327	RNA	SNP	A	TCGA-IB-7888-01A-11D-2154-08		11058327	37071568	105	29374											
ZNF70	7621	broad.mit.edu	37	chr22	24086567	24086567	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggatttcccacattccttaCactgataaggtctctctcct	5	13	2	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr22:24086567C>G	ENST00000341976.3	-	2	1221	c.761G>C	c.(760-762)tGt>tCt	p.C254S		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						ACATTCCTTACACTGATAAGG	0.512													False	0	False	22:24086567	0	G	24086567	C	G	24086567	3	3	93	1	0	0	0	0	1	0	0	0	18186	478	17	5	583	5	ZNF70	22	24086567	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08		24086567	27217999	106	29375											
GGT1	2678	broad.mit.edu	37	chr22	25016960	25016960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggctgacacctacgagaCgctggccatcgagggtgccc	14	14	0	2	rs151033935	by1000genomes	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chr22:25016960C>T	ENST00000400382.1	+	9	1411	c.656C>T	c.(655-657)aCg>aTg	p.T219M	GGT1_ENST00000400380.1_Missense_Mutation_p.T219M|GGT1_ENST00000248923.4_Missense_Mutation_p.T219M|GGT1_ENST00000406383.2_Missense_Mutation_p.T219M|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000400383.1_Missense_Mutation_p.T219M			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	219					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACCTACGAGACGCTGGCCATC	0.647													False	0	False	22:25016960	0	T	25016960	C	T	25016960	3	4	93	1	0	0	0	0	1	0	0	0	6406	536	19	1	674	1	GGT1	22	25016960	Missense_Mutation	SNP	C	TCGA-IB-7888-01A-11D-2154-08	930393	25016960	26287606	107	29376											
CSF2RA	0	broad.mit.edu	37	chrX	1428355	1428355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcgaagaggtcttgaccGtgaaggaaattacctgagac	12	9	1	4	rs139686363	byFrequency	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:1428355G>A	ENST00000381524.3	+	13	1372	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V396M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V396M|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V263M|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V430M|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R336H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	396						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGTCTTGACCGTGAAGGAAAT	0.527													False	0	False	X:1428355	0	A	1428355	G	A	1428355	3	1	93	1	0	0	0	0	1	0	0	0	3959	1145	40	1	1446	1	CSF2RA	23	1428355	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08		1428355	153842205	108	29377											
STS	412	broad.mit.edu	37	chrX	7267976	7267976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacccccaacttcaaccccGtgggttccaacggatgcttt	7	16	2	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:7267976G>A	ENST00000217961.4	+	10	1646	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	476					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CTTCAACCCCGTGGGTTCCAA	0.473									Ichthyosis				False	0	True	X:7267976	0	A	7267976	G	A	7267976	3	1	93	1	0	0	0	0	1	0	0	0	15414	1145	40	1	1464	1	STS	23	7267976	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	5839621	7267976	148002584	109	29378											
GLRA2	2742	broad.mit.edu	37	chrX	14708830	14708830	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctctctctctctctcAggtctcctatgtaaaagcga	7	12	5	0			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:14708830A>T	ENST00000218075.4	+	8	1460		c.e8-1		GLRA2_ENST00000443437.2_Splice_Site|GLRA2_ENST00000355020.4_Splice_Site	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2						neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	tctctctctcAGGTCTCCTAT	0.483													False	0	True	X:14708830	0	T	14708830	A	T	14708830	5	4	93	1	0	0	0	0	0	0	1	0	6500	202	7	5	1031	5	GLRA2	23	14708830	Splice_Site	SNP	A	TCGA-IB-7888-01A-11D-2154-08	7440854	14708830	140561730	110	29379											
SSX3	10214	broad.mit.edu	37	chrX	48209006	48209006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctggaaccgaacctgcaGtatctctgaaggacacctgt	11	11	2	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:48209006G>A	ENST00000376893.3	-	7	576	c.483C>T	c.(481-483)taC>taT	p.Y161Y	SSX3_ENST00000376895.1_Intron|SSX3_ENST00000298396.2_Intron			Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.Y161Y(1)		endometrium(3)|large_intestine(1)|lung(9)	13						cgaacctgcagtatctctgaa	0.413													False	0	False	X:48209006	0	A	48209006	G	A	48209006	2	1	93	1	0	0	0	0	0	0	0	1	15287	1024	36	2		2	SSX3	23	48209006	Silent	SNP	G	TCGA-IB-7888-01A-11D-2154-08	33500176	48209006	107061554	111	29380			1	15		2	2	13	G		4.380213e-05
SSX3	10214	broad.mit.edu	37	chrX	48209018	48209018	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aacctgcagtatctctgaagGacacctgtattgggtaacag	10	9	1	1			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:48209018G>C	ENST00000376893.3	-	7	564	c.471C>G	c.(469-471)gtC>gtG	p.V157V	SSX3_ENST00000376895.1_Intron|SSX3_ENST00000298396.2_Intron			Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						atctctgaaggacacctgTAT	0.418													False	0	False	X:48209018	0	C	48209018	G	C	48209018	2	2	93	1	0	0	0	0	0	0	0	1	15287	1161	41	5		5	SSX3	23	48209018	Silent	SNP	G	TCGA-IB-7888-01A-11D-2154-08	12	48209018	107061542	112	29381			1	15		2	2	13	G		4.380213e-05
LAMP2	0	broad.mit.edu	37	chrX	119576496	119576496	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgatgttcacttccttcaGataaaatcggttttcatttt	6	8	3	2			TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:119576496G>T	ENST00000371335.4	-	7	1022	c.886C>A	c.(886-888)Ctg>Atg	p.L296M	LAMP2_ENST00000200639.4_Missense_Mutation_p.L296M|LAMP2_ENST00000434600.2_Missense_Mutation_p.L296M|LAMP2_ENST00000538785.1_Missense_Mutation_p.L185M|LAMP2_ENST00000540603.1_Missense_Mutation_p.L249M	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	296	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						ACTTCCTTCAGATAAAATCGG	0.383													False	0	False	X:119576496	0	T	119576496	G	T	119576496	3	4	93	1	0	0	0	0	1	0	0	0	8669	933	33	3	649	3	LAMP2	23	119576496	Missense_Mutation	SNP	G	TCGA-IB-7888-01A-11D-2154-08	71367478	119576496	35694064	113	29382											
UBL4A	8266	broad.mit.edu	37	chrX	153713785	153713787	+	In_Frame_Del	DEL	GAC	GAC	-													gccaggtacatgccagctatGacgatgatgagcccaactgc					rs7057286	by1000genomes	TCGA-IB-7888-01A-11D-2154-08	TCGA-IB-7888-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	848ffe2a-2771-4f43-8b27-d59425f52af4	8f106862-2abd-4d1f-b9af-8d584a18d612	g.chrX:153713785_153713787delGAC	ENST00000369653.4	-	5	455_457	c.425_427delGTC	c.(424-429)cgtcat>cat	p.R142del	UBL4A_ENST00000369660.4_3'UTR|UBL4A_ENST00000477777.1_5'UTR			P11441	UBL4A_HUMAN	ubiquitin-like 4A	0					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCAGCTATGACGATGATGAGC	0.571													False	1	False	X:153713785	0	-	153713787	GAC	-	153713785	7	5	93	1	0	1	0	1	0	0	0	0	16971	1305	45	0		0	UBL4A	23	153713785	In_Frame_Del	DEL	GAC	TCGA-IB-7888-01A-11D-2154-08	34137289	153713785	1556775	114	29383											
H6PD	9563	broad.mit.edu	37	chr1	9324398	9324398	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccctgggcccacacgcacCtgtggctggttgacgagcgc	13	16	0	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:9324398C>A	ENST00000377403.2	+	5	2148	c.1846C>A	c.(1846-1848)Ctg>Atg	p.L616M	H6PD_ENST00000602477.1_Missense_Mutation_p.L627M	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	616	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CCACACGCACCTGTGGCTGGT	0.682													False	0	False	1:9324398	0	A	9324398	C	A	9324398	3	1	94	1	0	0	0	0	1	0	0	0	6983	680	24	3	1860	3	H6PD	1	9324398	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08		9324398	239926223	1	29384											
AMPD1	270	broad.mit.edu	37	chr1	115216697	115216697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaacaagtactgtagcaCgggactctgaaaaagaaaag	10	6	1	2			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:115216697C>T	ENST00000369538.3	-	13	1941	c.1894G>A	c.(1894-1896)Gtg>Atg	p.V632M	AMPD1_ENST00000353928.6_Missense_Mutation_p.V603M|AMPD1_ENST00000520113.2_Missense_Mutation_p.V636M	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	603					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TACTGTAGCACGGGACTCTGA	0.353													False	0	True	1:115216697	0	T	115216697	C	T	115216697	3	4	94	1	0	0	0	0	1	0	0	0	585	536	19	1	448	1	AMPD1	1	115216697	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08	105892299	115216697	134033924	2	29385											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150529196	150529196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgtctttcgatataaccGtcctcccagggaggagggca	12	12	1	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:150529196G>A	ENST00000271643.4	+	10	1912	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R559H|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R582H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R559H	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	559					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CGATATAACCGTCCTCCCAGG	0.647													False	0	False	1:150529196	0	A	150529196	G	A	150529196	3	1	94	1	0	0	0	0	1	0	0	0	277	1145	40	1	1706	1	ADAMTSL4	1	150529196	Missense_Mutation	SNP	G	TCGA-IB-7889-01A-11D-2154-08	35312499	150529196	98721425	3	29386											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	94	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-IB-7889-01A-11D-2154-08	2142319	152671515	96579106	4	29387											
RIT1	6016	broad.mit.edu	37	chr1	155880296	155880296	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgaactgcatggtcatGgcttcaaaagaagaaataaa	9	6	2	4			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:155880296G>T	ENST00000368323.3	-	3	312	c.108C>A	c.(106-108)gcC>gcA	p.A36A	RIT1_ENST00000368322.3_Splice_Site_p.A53A|RIT1_ENST00000539040.1_5'UTR	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	36					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GCATGGTCATGGCTTCAAAAG	0.393													False	0	False	1:155880296	0	T	155880296	G	T	155880296	5	4	94	1	0	0	0	0	0	0	1	0	13465	1362	47	3	567	3	RIT1	1	155880296	Splice_Site	SNP	G	TCGA-IB-7889-01A-11D-2154-08	3208781	155880296	93370325	5	29388											
SPTA1	6708	broad.mit.edu	37	chr1	158607956	158607957	+	Frame_Shift_Ins	INS	-	-	GAAGATAG													ttgacattatcttttttcttINScacaatctgatcaacgttga							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:158607956_158607957insGAAGATAG	ENST00000368148.3	-	36	5235_5236	c.5055_5056insCTATCTTC	c.(5053-5058)gtgaagfs	p.K1686fs	SPTA1_ENST00000368147.3_Frame_Shift_Ins_p.K1686fs	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1686					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTTTTTTCTTCACAATCTGAT	0.436													False	0	False	1:158607956	0	GAAGATAG	158607957	-	GAAGATAG	158607956	7	5	94	1	0	1	1	0	0	0	0	0	15198	1792	62	0	2271	0	SPTA1	1	158607956	Frame_Shift_Ins	INS	-	TCGA-IB-7889-01A-11D-2154-08	2727660	158607956	90642665	6	29389											
CADM3	57863	broad.mit.edu	37	chr1	159163257	159163257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttataaatcttcattaCgggaaaaagacacagccacc	7	10	2	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:159163257C>T	ENST00000368125.4	+	4	584	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	CADM3_ENST00000368124.4_Missense_Mutation_p.R177W	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	143	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ATCTTCATTACGGGAAAAAGA	0.532													False	0	True	1:159163257	0	T	159163257	C	T	159163257	3	4	94	1	0	0	0	0	1	0	0	0	2588	527	19	1	547	1	CADM3	1	159163257	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08	555301	159163257	90087364	7	29390											
IGSF9	57549	broad.mit.edu	37	chr1	159900160	159900160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcactgccaccagacccCgcggaggggacaggggaggc	15	15	1	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:159900160C>T	ENST00000368094.1	-	15	2080	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R612Q	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	628	Fibronectin type-III 2.					cell junction|integral to membrane|synapse		p.R612L(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CACCAGACCCCGCGGAGGGGA	0.652													False	0	True	1:159900160	0	T	159900160	C	T	159900160	3	4	94	1	0	0	0	0	1	0	0	0	7655	652	23	1	1684	1	IGSF9	1	159900160	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08	736903	159900160	89350461	8	29391											
PAPPA2	60676	broad.mit.edu	37	chr1	176709307	176709307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaactgcatctcagaggacGaggggcagaatcatcaggga	14	8	3	2			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr1:176709307G>A	ENST00000367662.3	+	14	5290	c.4126G>A	c.(4126-4128)Gag>Aag	p.E1376K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1376					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCAGAGGACGAGGGGCAGAA	0.483													False	0	False	1:176709307	0	A	176709307	G	A	176709307	3	1	94	1	0	0	0	0	1	0	0	0	11501	1059	37	1	4229	1	PAPPA2	1	176709307	Missense_Mutation	SNP	G	TCGA-IB-7889-01A-11D-2154-08	16809147	176709307	72541314	9	29392											
RNF144A	9781	broad.mit.edu	37	chr2	7160800	7160800	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atgccgatcaccttcctcccCggggagaccaggtacccttt	9	16	1	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:7160800C>G	ENST00000320892.6	+	6	940	c.498C>G	c.(496-498)ccC>ccG	p.P166P	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	166						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CCTTCCTCCCCGGGGAGACCA	0.587													False	0	True	2:7160800	0	G	7160800	C	G	7160800	2	3	94	1	0	0	0	0	0	0	0	1	13524	639	23	5		5	RNF144A	2	7160800	Silent	SNP	C	TCGA-IB-7889-01A-11D-2154-08		7160800	236038573	10	29393											
GEN1	348654	broad.mit.edu	37	chr2	17962994	17962998	+	Frame_Shift_Del	DEL	AAGTT	AAGTT	-													tcaaagaaagtggccataacAagttgagtagccctaagata					rs79148917		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	AAGTT	AAGTT	-	-	AAGTT	AAGTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:17962994_17962998delAAGTT	ENST00000381254.2	+	14	2729_2733	c.2515_2519delAAGTT	c.(2515-2520)aagttgfs	p.KL839fs	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Frame_Shift_Del_p.KL839fs	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	839					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGCCATAACAAGTTGAGTAGCCCT	0.371								Homologous recombination					False	1	False	2:17962994	0	-	17962998	AAGTT	-	17962994	7	5	94	1	0	1	0	1	0	0	0	0	6380	131	5	0	2565	0	GEN1	2	17962994	Frame_Shift_Del	DEL	AAGTT	TCGA-IB-7889-01A-11D-2154-08	10802194	17962994	225236379	11	29394											
MAP4K4	9448	broad.mit.edu	37	chr2	102314997	102314998	+	Frame_Shift_Ins	INS	-	-	A													gcacctatggacaagtctatINSaaggtcggtgtgggcgcctt							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:102314997_102314998insA	ENST00000413150.2	+	2	175_176	c.120_121insA	c.(121-123)aagfs	p.K41fs	MAP4K4_ENST00000456652.1_Frame_Shift_Ins_p.K41fs|MAP4K4_ENST00000347699.4_Frame_Shift_Ins_p.K41fs|MAP4K4_ENST00000324219.4_Frame_Shift_Ins_p.K41fs|MAP4K4_ENST00000350198.4_Frame_Shift_Ins_p.K41fs|MAP4K4_ENST00000302217.5_Frame_Shift_Ins_p.K41fs|MAP4K4_ENST00000425019.1_Frame_Shift_Ins_p.K41fs	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	41	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GACAAGTCTATAAGGTCGGTGT	0.515													False	2	False	2:102314997	0	A	102314998	-	A	102314997	7	5	94	1	0	1	1	0	0	0	0	0	9329	1413	49	0	126	0	MAP4K4	2	102314997	Frame_Shift_Ins	INS	-	TCGA-IB-7889-01A-11D-2154-08	84352003	102314997	140884376	12	29395											
LCT	3938	broad.mit.edu	37	chr2	136564940	136564940	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaccaggcgacataccctcGaaggtctataccatcgagcc	9	14	1	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:136564940G>A	ENST00000264162.2	-	9	3941	c.3931C>T	c.(3931-3933)Cga>Tga	p.R1311*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1311	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACATACCCTCGAAGGTCTATA	0.522													False	0	False	2:136564940	0	A	136564940	G	A	136564940	4	1	94	1	0	0	0	0	0	1	0	0	8744	1066	37	1	1888	1	LCT	2	136564940	Nonsense_Mutation	SNP	G	TCGA-IB-7889-01A-11D-2154-08	34249943	136564940	106634433	13	29396											
CXCR4	0	broad.mit.edu	37	chr2	136872710	136872710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatttccaggaggatgaagGagtcgatgctgatcccaatg	13	7	0	3			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:136872710G>A	ENST00000409817.1	-	1	1103	c.800C>T	c.(799-801)tCc>tTc	p.S267F	CXCR4_ENST00000241393.3_Missense_Mutation_p.S263F|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	263	Involved in dimerization.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GAGGATGAAGGAGTCGATGCT	0.517													False	0	False	2:136872710	0	A	136872710	G	A	136872710	3	1	94	1	0	0	0	0	1	0	0	0	4118	1174	41	2	274	2	CXCR4	2	136872710	Missense_Mutation	SNP	G	TCGA-IB-7889-01A-11D-2154-08	307770	136872710	106326663	14	29397											
BARD1	580	broad.mit.edu	37	chr2	215645503	215645523	+	In_Frame_Del	DEL	TGGTGAAGAACATTCAGGCAA	TGGTGAAGAACATTCAGGCAA	-													actttacgtttgcatgaaggTggtgaagaacattcaggcaa					rs138745646	byFrequency	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	TGGTGAAGAACATTCAGGCAA	TGGTGAAGAACATTCAGGCAA	-	-	TGGTGAAGAACATTCAGGCAA	TGGTGAAGAACATTCAGGCAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr2:215645503_215645523delTGGTGAAGAACATTCAGGCAA	ENST00000260947.4	-	4	1209_1229	c.1075_1095delTTGCCTGAATGTTCTTCACCA	c.(1075-1095)ttgcctgaatgttcttcaccadel	p.LPECSSP359del	BARD1_ENST00000449967.2_In_Frame_Del_p.LPECSSP215del	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	359					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCATGAAGGTGGTGAAGAACATTCAGGCAATGGTATATTT	0.421									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				False	1	False	2:215645503	0	-	215645523	TGGTGAAGAACATTCAGGCAA	-	215645503	7	5	94	1	0	1	0	1	0	0	0	0	1316	1683	59	0	1270	0	BARD1	2	215645503	In_Frame_Del	DEL	TGGTGAAGAACATTCAGGCAA	TCGA-IB-7889-01A-11D-2154-08	78772793	215645503	27553870	15	29398											
ZNF660	285349	broad.mit.edu	37	chr3	44636431	44636432	+	In_Frame_Ins	INS	-	-	ACTTTTTTTCCTCTGTGCATTCGCTGATGT													gagaaaccttacaaatgtaaINStgagtgtgggaaggctttta							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:44636431_44636432insACTTTTTTTCCTCTGTGCATTCGCTGATGT	ENST00000322734.2	+	3	1079_1080	c.746_747insACTTTTTTTCCTCTGTGCATTCGCTGATGT	c.(745-750)aatgag>aaACTTTTTTTCCTCTGTGCATTCGCTGATGTtgag	p.249_249N>KLFFLCAFADV	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TACAAATGTAATGAGTGTGGGA	0.371													False	0	False	3:44636431	0	ACTTTTTTTCCTCTGTGCATTCGCTGATGT	44636432	-	ACTTTTTTTCCTCTGTGCATTCGCTGATGT	44636431	7	5	94	1	0	1	1	0	0	0	0	0	18153	101	4	0	748	0	ZNF660	3	44636431	In_Frame_Ins	INS	-	TCGA-IB-7889-01A-11D-2154-08		44636431	153385999	16	29399											
CACNA2D2	9254	broad.mit.edu	37	chr3	50405102	50405102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagactcgggtgatgccaccGtctgtggcagcgaacacggc	14	12	1	2			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:50405102G>A	ENST00000435965.1	-	27	2462	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000424201.2_Silent_p.D756D|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000479441.1_Silent_p.D763D|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000423994.2_Silent_p.D763D|CACNA2D2_ENST00000360963.3_Silent_p.D687D|CACNA2D2_ENST00000429770.1_Silent_p.D756D|CACNA2D2_ENST00000395083.1_Silent_p.D756D|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607362.1_RNA|CACNA2D2_ENST00000266039.3_Silent_p.D756D|XXcos-LUCA11.4_ENST00000607088.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	763					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGATGCCACCGTCTGTGGCAG	0.642													False	0	False	3:50405102	0	A	50405102	G	A	50405102	2	1	94	1	0	0	0	0	0	0	0	1	2569	1136	40	1		1	CACNA2D2	3	50405102	Silent	SNP	G	TCGA-IB-7889-01A-11D-2154-08	5768671	50405102	147617328	17	29400											
QTRTD1	79691	broad.mit.edu	37	chr3	113804663	113804663	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgcacaactttgaacactActttgggtttttccattaca	6	9	0	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:113804663A>G	ENST00000281273.4	+	10	1417	c.1160A>G	c.(1159-1161)tAc>tGc	p.Y387C	QTRTD1_ENST00000493014.1_Missense_Mutation_p.Y281C|QTRTD1_ENST00000479882.1_Missense_Mutation_p.Y264C|QTRTD1_ENST00000485050.1_Missense_Mutation_p.Y399C	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	387					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TTTGAACACTACTTTGGGTTT	0.463													False	0	False	3:113804663	0	G	113804663	A	G	113804663	3	3	94	1	0	0	0	0	1	0	0	0	12965	391	14	4	1190	4	QTRTD1	3	113804663	Missense_Mutation	SNP	A	TCGA-IB-7889-01A-11D-2154-08	63399561	113804663	84217767	18	29401											
TTC14	151613	broad.mit.edu	37	chr3	180327850	180327851	+	Frame_Shift_Ins	INS	-	-	TGGAACTGGGT													aaacccaagcaggtagtagcINSaaaacagaaaagccatataa					rs76254787		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:180327850_180327851insTGGAACTGGGT	ENST00000296015.4	+	12	1965_1966	c.1833_1834insTGGAACTGGGT	c.(1834-1836)aaafs	p.K612fs	TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	612							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CAGGTAGTAGCAAAACAGAAAA	0.361													False	0	True	3:180327850	0	TGGAACTGGGT	180327851	-	TGGAACTGGGT	180327850	7	5	94	1	0	1	1	0	0	0	0	0	16765	709	25	0	1909	0	TTC14	3	180327850	Frame_Shift_Ins	INS	-	TCGA-IB-7889-01A-11D-2154-08	66523187	180327850	17694580	19	29402											
ATP13A5	344905	broad.mit.edu	37	chr3	193040341	193040342	+	Frame_Shift_Ins	INS	-	-	C													cgtcccaaatttgcaggagtINSctacaatgcaatcttccatt							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr3:193040341_193040342insC	ENST00000342358.4	-	15	1813_1814	c.1696_1697insG	c.(1696-1698)gacfs	p.D566fs		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	566					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTTGCAGGAGTCTACAATGCAA	0.317													False	1	False	3:193040341	0	C	193040342	-	C	193040341	7	5	94	1	0	1	1	0	0	0	0	0	1131	1667	58	0	2021	0	ATP13A5	3	193040341	Frame_Shift_Ins	INS	-	TCGA-IB-7889-01A-11D-2154-08	12712491	193040341	4982089	20	29403											
SYNPO2	171024	broad.mit.edu	37	chr4	119948009	119948009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaaagaagaaacaggccCgagctaccaaagggctcccc	10	13	0	3			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:119948009C>T	ENST00000307142.4	+	3	681	c.485C>T	c.(484-486)cCg>cTg	p.P162L	SYNPO2_ENST00000429713.2_Missense_Mutation_p.P162L|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P162L	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	162						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAACAGGCCCGAGCTACCAA	0.547													False	0	True	4:119948009	0	T	119948009	C	T	119948009	3	4	94	1	0	0	0	0	1	0	0	0	15539	652	23	1	495	1	SYNPO2	4	119948009	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08		119948009	71206267	21	29404											
CCRN4L	25819	broad.mit.edu	37	chr4	139966043	139966043	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggaccagatggttgtgcCttattttttcttcaaaaccg	8	8	2	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:139966043C>T	ENST00000280614.2	+	3	904	c.711C>T	c.(709-711)gcC>gcT	p.A237A	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	237					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					ATGGTTGTGCCTTATTTTTTC	0.463													False	0	False	4:139966043	0	T	139966043	C	T	139966043	2	4	94	1	0	0	0	0	0	0	0	1	2974	668	24	2		2	CCRN4L	4	139966043	Silent	SNP	C	TCGA-IB-7889-01A-11D-2154-08	20018034	139966043	51188233	22	29405											
RBM46	166863	broad.mit.edu	37	chr4	155719080	155719081	+	Frame_Shift_Ins	INS	-	-	CTAATTGGATATTTGTACTCACTATTCAA													gctgggaagatatatgaattINStcgacttatgatggaattta							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr4:155719080_155719081insCTAATTGGATATTTGTACTCACTATTCAA	ENST00000510397.1	+	3	448_449	c.269_270insCTAATTGGATATTTGTACTCACTATTCAA	c.(268-273)tttcgafs	p.R91fs	RBM46_ENST00000514866.1_Frame_Shift_Ins_p.R91fs|RBM46_ENST00000281722.3_Frame_Shift_Ins_p.R91fs	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	91	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATATATGAATTTCGACTTATGA	0.351													False	0	True	4:155719080	0	CTAATTGGATATTTGTACTCACTATTCAA	155719081	-	CTAATTGGATATTTGTACTCACTATTCAA	155719080	7	5	94	1	0	1	1	0	0	0	0	0	13219	1841	64	0	275	0	RBM46	4	155719080	Frame_Shift_Ins	INS	-	TCGA-IB-7889-01A-11D-2154-08	15753037	155719080	35435196	23	29406											
GHR	2690	broad.mit.edu	37	chr5	42718677	42718678	+	Frame_Shift_Ins	INS	-	-	AA													ttgatgagccagatgaaaagINSactgaggaatcagacacaga							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:42718677_42718678insAA	ENST00000230882.4	+	10	1258_1259	c.1068_1069insAA	c.(1069-1071)actfs	p.T357fs	GHR_ENST00000537449.1_Frame_Shift_Ins_p.T170fs|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Frame_Shift_Ins_p.T335fs	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	357					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGATGAAAAGACTGAGGAATC	0.431													False	1	False	5:42718677	0	AA	42718678	-	AA	42718677	7	5	94	1	0	1	1	0	0	0	0	0	6416	933	33	0	1102	0	GHR	5	42718677	Frame_Shift_Ins	INS	-	TCGA-IB-7889-01A-11D-2154-08		42718677	138196583	24	29407	357	2									
GHR	2690	broad.mit.edu	37	chr5	42718679	42718680	+	Frame_Shift_Ins	INS	-	-	TCATAATAATTAAATGAATTAGCAAATAATGTTCAGAGATTAATTA													gatgagccagatgaaaagacINStgaggaatcagacacagaca							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:42718679_42718680insTCATAATAATTAAATGAATTAGCAAATAATGTTCAGAGATTAATTA	ENST00000230882.4	+	10	1260_1261	c.1070_1071insTCATAATAATTAAATGAATTAGCAAATAATGTTCAGAGATTAATTA	c.(1069-1074)actgagfs	p.E358fs	GHR_ENST00000537449.1_Frame_Shift_Ins_p.E171fs|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Frame_Shift_Ins_p.E336fs	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	358					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GATGAAAAGACTGAGGAATCAG	0.431													False	0	False	5:42718679	0	TCATAATAATTAAATGAATTAGCAAATAATGTTCAGAGATTAATTA	42718680	-	TCATAATAATTAAATGAATTAGCAAATAATGTTCAGAGATTAATTA	42718679	7	5	94	1	0	1	1	0	0	0	0	0	6416	565	20	0	1104	0	GHR	5	42718679	Frame_Shift_Ins	INS	-	TCGA-IB-7889-01A-11D-2154-08	2	42718679	138196581	25	29408	357	2									
EPB41L4A	64097	broad.mit.edu	37	chr5	111506659	111506660	+	Frame_Shift_Del	DEL	CT	CT	-													cactgaatgtgcttccataaCtcttcttttgcttggatatc							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr5:111506659_111506660delCT	ENST00000261486.5	-	19	1928_1929	c.1652_1653delAG	c.(1651-1653)gagfs	p.E551fs	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	551						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GCTTCCATAACTCTTCTTTTGC	0.347													False	2	False	5:111506659	0	-	111506660	CT	-	111506659	7	5	94	1	0	1	0	1	0	0	0	0	5187	564	20	0	427	0	EPB41L4A	5	111506659	Frame_Shift_Del	DEL	CT	TCGA-IB-7889-01A-11D-2154-08	68787980	111506659	69408601	26	29409											
FOXQ1	94234	broad.mit.edu	37	chr6	1313384	1313384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcggagatcaacgagtacCtcatgggcaagttccccttt	11	11	2	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr6:1313384C>T	ENST00000296839.2	+	1	710	c.445C>T	c.(445-447)Ctc>Ttc	p.L149F		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	149					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		CAACGAGTACCTCATGGGCAA	0.657													False	0	False	6:1313384	0	T	1313384	C	T	1313384	3	4	94	1	0	0	0	0	1	0	0	0	6072	681	24	2	447	2	FOXQ1	6	1313384	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08		1313384	169801683	27	29410											
BBS9	27241	broad.mit.edu	37	chr7	33407475	33407475	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgcttccaaaacttctcGtaagtaaaaccatgttatca	4	10	3	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:33407475G>A	ENST00000242067.6	+	17	2310		c.e17+1		BBS9_ENST00000396127.2_Splice_Site|BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000350941.3_Splice_Site|BBS9_ENST00000354265.4_Splice_Site	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9						fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AAAACTTCTCGTAAGTAAAAC	0.373									Bardet-Biedl syndrome				False	0	True	7:33407475	0	A	33407475	G	A	33407475	5	1	94	1	0	0	0	0	0	0	1	0	1346	1159	40	1	1852	1	BBS9	7	33407475	Splice_Site	SNP	G	TCGA-IB-7889-01A-11D-2154-08		33407475	125731188	28	29411											
ZNF716	441234	broad.mit.edu	37	chr7	57528604	57528604	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggaggttataattatgttaAccaatgtttgtcagctaccc	8	7	1	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:57528604A>T	ENST00000420713.1	+	4	549	c.437A>T	c.(436-438)aAc>aTc	p.N146I		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AATTATGTTAACCAATGTTTG	0.343													False	0	False	7:57528604	0	T	57528604	A	T	57528604	3	4	94	1	0	0	0	0	1	0	0	0	18202	43	2	5	451	5	ZNF716	7	57528604	Missense_Mutation	SNP	A	TCGA-IB-7889-01A-11D-2154-08	24121129	57528604	101610059	29	29412											
ZAN	7455	broad.mit.edu	37	chr7	100377265	100377265	+	RNA	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaaacaccctctgtgAgttcggaggtctctaccagg	11	12	2	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:100377265A>T	ENST00000542585.1	+	0	6660				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCTCTGTGAGTTCGGAGGT	0.652													False	0	False	7:100377265	0	T	100377265	A	T	100377265	1	4	94	0	1	0	0	0	0	0	0	0	17597	304	11	5		5	ZAN	7	100377265	RNA	SNP	A	TCGA-IB-7889-01A-11D-2154-08	42848661	100377265	58761398	30	29413											
SPAM1	0	broad.mit.edu	37	chr7	123599604	123599604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacataatcaacgtcacaCtagcagccaaaatgtgtagc	6	11	2	0	rs146075363		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr7:123599604C>T	ENST00000340011.5	+	5	1468	c.1111C>T	c.(1111-1113)Cta>Tta	p.L371L	SPAM1_ENST00000460182.1_Silent_p.L371L|SPAM1_ENST00000402183.2_Silent_p.L371L|SPAM1_ENST00000439500.1_Silent_p.L371L|SPAM1_ENST00000223028.7_Silent_p.L371L	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	371					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CAACGTCACACTAGCAGCCAA	0.378													False	0	False	7:123599604	0	T	123599604	C	T	123599604	2	4	94	1	0	0	0	0	0	0	0	1	15068	564	20	2		2	SPAM1	7	123599604	Silent	SNP	C	TCGA-IB-7889-01A-11D-2154-08	23222339	123599604	35539059	31	29414											
ASH2L	9070	broad.mit.edu	37	chr8	37964684	37964684	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacatttggcatagatacctCgtgagtacttttcatagttt	7	8	1	2			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:37964684C>T	ENST00000343823.6	+	3	710	c.401C>T	c.(400-402)tCa>tTa	p.S134L	ASH2L_ENST00000545394.1_Intron|ASH2L_ENST00000521652.1_Splice_Site_p.S40L|ASH2L_ENST00000428278.2_Splice_Site_p.S40L|ASH2L_ENST00000250635.7_Splice_Site_p.S40L	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	134					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ATAGATACCTCGTGAGTACTT	0.408													False	0	False	8:37964684	0	T	37964684	C	T	37964684	5	4	94	1	0	0	0	0	0	0	1	0	1046	898	31	1	411	1	ASH2L	8	37964684	Splice_Site	SNP	C	TCGA-IB-7889-01A-11D-2154-08		37964684	108399338	32	29415											
WHSC1L1	54904	broad.mit.edu	37	chr8	38187221	38187221	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacagatcttggtcgtcggGtttttttaacttcggttttg	11	7	1	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:38187221G>T	ENST00000317025.8	-	6	1773	c.1256C>A	c.(1255-1257)aCc>aAc	p.T419N	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.T419N|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.T419N|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.T419N	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	419					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGGTCGTCGGGTTTTTTTAAC	0.433			T	NUP98	AML								False	0	True	8:38187221	0	T	38187221	G	T	38187221	3	4	94	1	0	0	0	0	1	0	0	0	17447	1261	44	3	3220	3	WHSC1L1	8	38187221	Missense_Mutation	SNP	G	TCGA-IB-7889-01A-11D-2154-08	222537	38187221	108176801	33	29416											
SDCBP	6386	broad.mit.edu	37	chr8	59488619	59488620	+	Splice_Site	INS	-	-	TTAAC													aggcttaaatcaatagataaINStgtaagtattttaaatacct							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:59488619_59488620insTTAAC	ENST00000523483.1	+	6	1975_1976	c.461_462insTTAAC	c.(460-465)aatggt>aaTTAACtggt	p.G155fs	SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000422546.2_Splice_Site_p.G134fs|SDCBP_ENST00000413219.2_Splice_Site_p.G135fs|SDCBP_ENST00000447267.2_Intron|SDCBP_ENST00000424270.2_Splice_Site_p.G129fs|SDCBP_ENST00000447182.2_Splice_Site_p.G134fs|SDCBP_ENST00000260130.4_Splice_Site_p.G135fs			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	135	PDZ 1.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TCAATAGATAATGTAAGTATTT	0.272													False	0	False	8:59488619	0	TTAAC	59488620	-	TTAAC	59488619	8	5	94	1	0	1	1	0	0	0	1	0	14036	115	4	0	415	0	SDCBP	8	59488619	Splice_Site	INS	-	TCGA-IB-7889-01A-11D-2154-08	21301398	59488619	86875403	34	29417											
RGS22	26166	broad.mit.edu	37	chr8	101076206	101076206	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcaaattcagaaatcaAtttgttggttttagatgggt	8	4	4	2			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:101076206A>T	ENST00000360863.6	-	8	984	c.790T>A	c.(790-792)Ttg>Atg	p.L264M	RGS22_ENST00000523437.1_Missense_Mutation_p.L252M|RGS22_ENST00000523287.1_Missense_Mutation_p.L83M	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	264					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCAGAAATCAATTTGTTGGTT	0.343													False	0	True	8:101076206	0	T	101076206	A	T	101076206	3	4	94	1	0	0	0	0	1	0	0	0	13384	98	4	5	3084	5	RGS22	8	101076206	Missense_Mutation	SNP	A	TCGA-IB-7889-01A-11D-2154-08	41587587	101076206	45287816	35	29418											
TRPS1	7227	broad.mit.edu	37	chr8	116616325	116616325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatggcactgatgtttgactCgcgagcttccagccgcccca	11	14	0	2			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:116616325C>T	ENST00000395715.3	-	4	2448	c.1871G>A	c.(1870-1872)cGa>cAa	p.R624Q	TRPS1_ENST00000220888.5_Missense_Mutation_p.R611Q|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.R615Q|TRPS1_ENST00000519674.1_Missense_Mutation_p.R611Q	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	611					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATGTTTGACTCGCGAGCTTCC	0.478									Langer-Giedion syndrome				False	0	False	8:116616325	0	T	116616325	C	T	116616325	3	4	94	1	0	0	0	0	1	0	0	0	16676	884	31	1	2029	1	TRPS1	8	116616325	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08	15540119	116616325	29747697	36	29419											
SLC39A4	55630	broad.mit.edu	37	chr8	145642141	145642144	+	Frame_Shift_Del	DEL	CAGC	CAGC	-													accaccagcacagccagaagCagccccagctccagcgagac							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	CAGC	CAGC	-	-	CAGC	CAGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr8:145642141_145642144delCAGC	ENST00000301305.3	-	1	135_138	c.30_33delGCTG	c.(28-33)gggctgfs	p.GL10fs		NM_130849.2	NP_570901.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	10						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGCCAGAAGCAGCCCCAGCTCCA	0.676													False	1	True	8:145642141	0	-	145642144	CAGC	-	145642141	7	5	94	1	0	1	0	1	0	0	0	0	14700	697	25	0	2075	0	SLC39A4	8	145642141	Frame_Shift_Del	DEL	CAGC	TCGA-IB-7889-01A-11D-2154-08	29025816	145642141	721881	37	29420											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	23	8	0	1	rs121913388		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21971120	0	A	21971120	G	A	21971120	4	1	94	1	0	0	0	0	0	1	0	0	3184	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-IB-7889-01A-11D-2154-08		21971120	119242311	38	29421											
GOLGA2	2801	broad.mit.edu	37	chr9	131022880	131022881	+	Frame_Shift_Ins	INS	-	-	A													cgcctccgcctgctccccccINSagagctcggccgcccgctcc							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:131022880_131022881insA	ENST00000421699.2	-	17	1552_1553	c.1540_1541insT	c.(1540-1542)tggfs	p.W514fs		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	514						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CTGCTCCCCCCAGAGCTCGGCC	0.653													False	1	True	9:131022880	0	A	131022881	-	A	131022880	7	5	94	1	0	1	1	0	0	0	0	0	6597	595	21	0	1507	0	GOLGA2	9	131022880	Frame_Shift_Ins	INS	-	TCGA-IB-7889-01A-11D-2154-08	109051760	131022880	10190551	39	29422											
PKN3	29941	broad.mit.edu	37	chr9	131477728	131477728	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggtgctcagccgggaCgagatagagaggtgtgtggg	20	6	1	2			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr9:131477728C>T	ENST00000291906.4	+	15	2190	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	PKN3_ENST00000485301.1_Intron	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	599	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	p.D599D(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TCAGCCGGGACGAGATAGAGA	0.612													False	0	False	9:131477728	0	T	131477728	C	T	131477728	2	4	94	1	0	0	0	0	0	0	0	1	12050	535	19	1		1	PKN3	9	131477728	Silent	SNP	C	TCGA-IB-7889-01A-11D-2154-08	454848	131477728	9735703	40	29423											
PRKG1	5592	broad.mit.edu	37	chr10	53564378	53564378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaactctgggccattgatcGacaatgttttcaaacaataa	6	8	2	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:53564378G>A	ENST00000373980.4	+	4	1043	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	PRKG1_ENST00000373985.1_Missense_Mutation_p.R182Q|PRKG1_ENST00000401604.2_Missense_Mutation_p.R194Q	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	194					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GCCATTGATCGACAATGTTTT	0.338													False	0	False	10:53564378	0	A	53564378	G	A	53564378	3	1	94	1	0	0	0	0	1	0	0	0	12598	1058	37	1	910	1	PRKG1	10	53564378	Missense_Mutation	SNP	G	TCGA-IB-7889-01A-11D-2154-08		53564378	81970369	41	29424											
MYOZ1	58529	broad.mit.edu	37	chr10	75391860	75391860	+	Missense_Mutation	SNP	G	G	T													agggccccaggtcaaacttgGgcatctggaaggtcatgcgt							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:75391860G>T	ENST00000359322.4	-	6	1092	c.728C>A	c.(727-729)cCc>cAc	p.P243H		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	243					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GTCAAACTTGGGCATCTGGAA	0.493													False	0	True	10:75391860	0	T	75391860	G	T	75391860	3	4	94	1	0	0	0	0	1	0	0	0	10162	1232	43	3	175	3	MYOZ1	10	75391860	Missense_Mutation	SNP	G	TCGA-IB-7889-01A-11D-2154-08	21827482	75391860	60142887	42	29425	358	2									
MYOZ1	58529	broad.mit.edu	37	chr10	75391861	75391861	+	Missense_Mutation	SNP	G	G	T													gggccccaggtcaaacttggGcatctggaaggtcatgcgtt							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:75391861G>T	ENST00000359322.4	-	6	1091	c.727C>A	c.(727-729)Ccc>Acc	p.P243T		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	243					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TCAAACTTGGGCATCTGGAAG	0.488													False	0	True	10:75391861	0	T	75391861	G	T	75391861	3	4	94	1	0	0	0	0	1	0	0	0	10162	1203	42	3	176	3	MYOZ1	10	75391861	Missense_Mutation	SNP	G	TCGA-IB-7889-01A-11D-2154-08	1	75391861	60142886	43	29426	358	2									
COL17A1	1308	broad.mit.edu	37	chr10	105816869	105816895	+	In_Frame_Del	DEL	GCCACCAACACCGCCACCTCCTCCACT	GCCACCAACACCGCCACCTCCTCCACT	-													ccccaagggccgccgccagcGccaccaacaccgccacctcc					rs150527933	byFrequency	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	GCCACCAACACCGCCACCTCCTCCACT	GCCACCAACACCGCCACCTCCTCCACT	-	-	GCCACCAACACCGCCACCTCCTCCACT	GCCACCAACACCGCCACCTCCTCCACT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr10:105816869_105816895delGCCACCAACACCGCCACCTCCTCCACT	ENST00000353479.5	-	17	1593_1619	c.1303_1329delAGTGGAGGAGGTGGCGGTGTTGGTGGC	c.(1303-1329)agtggaggaggtggcggtgttggtggcdel	p.SGGGGGVGG435del	COL17A1_ENST00000369733.3_In_Frame_Del_p.SGGGGGVGG435del	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	435	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		cgccgccagcgccaccaacaccgccacctcctccactgccaccacca	0.639													False	1	False	10:105816869	0	-	105816895	GCCACCAACACCGCCACCTCCTCCACT	-	105816869	7	5	94	1	0	1	0	1	0	0	0	0	3697	1074	38	0	3324	0	COL17A1	10	105816869	In_Frame_Del	DEL	GCCACCAACACCGCCACCTCCTCCACT	TCGA-IB-7889-01A-11D-2154-08	30425008	105816869	29717878	44	29427											
OR10Q1	219960	broad.mit.edu	37	chr11	57995470	57995470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctaaggctgtaaagcAaagggttgagtaagggggtg	16	4	0	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr11:57995470A>G	ENST00000316770.2	-	1	920	c.878T>C	c.(877-879)tTg>tCg	p.L293S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCTGTAAAGCAAAGGGTTGAG	0.547													False	0	True	11:57995470	0	G	57995470	A	G	57995470	3	3	94	1	0	0	0	0	1	0	0	0	10984	131	5	4	85	4	OR10Q1	11	57995470	Missense_Mutation	SNP	A	TCGA-IB-7889-01A-11D-2154-08		57995470	77011046	45	29428											
MS4A14	84689	broad.mit.edu	37	chr11	60165353	60165354	+	Frame_Shift_Del	DEL	TT	TT	-													gatcctgcttgctctaatcaTtgtgggctttggaactatat					rs3217518		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr11:60165353_60165354delTT	ENST00000300187.6	+	2	444_445	c.167_168delTT	c.(166-168)attfs	p.I56fs	MS4A14_ENST00000395005.2_Frame_Shift_Del_p.I56fs|MS4A14_ENST00000531783.1_Frame_Shift_Del_p.I56fs|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	56						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GCTCTAATCATTGTGGGCTTTG	0.48													False	2	False	11:60165353	0	-	60165354	TT	-	60165353	7	5	94	1	0	1	0	1	0	0	0	0	9925	1493	52	0	173	0	MS4A14	11	60165353	Frame_Shift_Del	DEL	TT	TCGA-IB-7889-01A-11D-2154-08	2169883	60165353	74841163	46	29429											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	94	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08		25398284	108453611	47	29430											
MYL6	4637	broad.mit.edu	37	chr12	56552366	56552379	+	Frame_Shift_Del	DEL	GAGTTTGTGGGTCA	GAGTTTGTGGGTCA	-													gagtctgcagcctgaaacagGagtttgtgggtcagagtttg					rs17097849		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	GAGTTTGTGGGTCA	GAGTTTGTGGGTCA	-	-	GAGTTTGTGGGTCA	GAGTTTGTGGGTCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr12:56552366_56552379delGAGTTTGTGGGTCA	ENST00000536128.1	+	1	221_234	c.181_194delGAGTTTGTGGGTCA	c.(181-195)gagtttgtgggtcagfs	p.EFVGQ61fs	MYL6_ENST00000293422.5_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000548400.1_Intron|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000549566.1_Frame_Shift_Del_p.EFVGQ61fs|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000548293.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CCTGAAACAGGAGTTTGTGGGTCAGAGTTTGTGG	0.57													False	1	True	12:56552366	0	-	56552379	GAGTTTGTGGGTCA	-	56552366	7	5	94	1	0	1	0	1	0	0	0	0	10118	1189	41	0		0	MYL6	12	56552366	Frame_Shift_Del	DEL	GAGTTTGTGGGTCA	TCGA-IB-7889-01A-11D-2154-08	31154082	56552366	77299529	48	29431											
GPR182	11318	broad.mit.edu	37	chr12	57389416	57389416	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcaacatgtatagcagcatCttcttcctggtgtgcctcag	9	11	4	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr12:57389416C>T	ENST00000300098.1	+	2	642	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	141						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						ATAGCAGCATCTTCTTCCTGG	0.592													False	0	False	12:57389416	0	T	57389416	C	T	57389416	2	4	94	1	0	0	0	0	0	0	0	1	6723	903	32	2		2	GPR182	12	57389416	Silent	SNP	C	TCGA-IB-7889-01A-11D-2154-08	837050	57389416	76462479	49	29432											
MYCBP2	23077	broad.mit.edu	37	chr13	77672728	77672729	+	Frame_Shift_Ins	INS	-	-	CAAAGGA													tgtcttaacaggagcagtacINSttttttgaggtagattttta							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr13:77672728_77672729insCAAAGGA	ENST00000544440.2	-	56	8463_8464	c.8446_8447insTCCTTTG	c.(8446-8448)agtfs	p.S2816fs	MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Frame_Shift_Ins_p.S339fs|MYCBP2_ENST00000407578.2_Frame_Shift_Ins_p.S2854fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.S2816fs			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGAGCAGTACTTTTTTGAGGT	0.47													False	0	True	13:77672728	0	CAAAGGA	77672729	-	CAAAGGA	77672728	7	5	94	1	0	1	1	0	0	0	0	0	10085	565	20	0	5587	0	MYCBP2	13	77672728	Frame_Shift_Ins	INS	-	TCGA-IB-7889-01A-11D-2154-08		77672728	37497150	50	29433											
DCT	1638	broad.mit.edu	37	chr13	95104903	95104903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtagcattgtaaagcaaaCgattagaaatcacctaaatg	7	6	1	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr13:95104903C>T	ENST00000446125.1	-	7	1619	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H	DCT_ENST00000377028.5_Intron	NM_001129889.1	NP_001123361.1	P40126	TYRP2_HUMAN	dopachrome tautomerase	394					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		gtaaagcaaacgattagaaat	0.274													False	0	True	13:95104903	0	T	95104903	C	T	95104903	3	4	94	1	0	0	0	0	1	0	0	0	4329	536	19	1	481	1	DCT	13	95104903	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08	17432175	95104903	20064975	51	29434											
FOXA1	3169	broad.mit.edu	37	chr14	38061592	38061592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcatgcacgggttcatggCggccgcgtaggggcccaggc	17	13	2	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr14:38061592C>T	ENST00000250448.2	-	2	458	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	FOXA1_ENST00000540786.1_Missense_Mutation_p.A100T|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	133					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GGGTTCATGGCGGCCGCGTAG	0.736													False	0	False	14:38061592	0	T	38061592	C	T	38061592	3	4	94	1	0	0	0	0	1	0	0	0	6029	768	27	1	1025	1	FOXA1	14	38061592	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08		38061592	69287948	52	29435											
PLA2G4E	123745	broad.mit.edu	37	chr15	42276761	42276761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattctcatctggcagctcGtatttggggaaggggatgtt	13	7	3	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:42276761G>A	ENST00000399518.3	-	19	2745	c.2259C>T	c.(2257-2259)taC>taT	p.Y753Y	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.Y724Y	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	741	PLA2c.			C -> Y (in Ref. 1; BAC87034).	phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CTGGCAGCTCGTATTTGGGGA	0.522													False	0	False	15:42276761	0	A	42276761	G	A	42276761	2	1	94	1	0	0	0	0	0	0	0	1	12074	1140	40	1		1	PLA2G4E	15	42276761	Silent	SNP	G	TCGA-IB-7889-01A-11D-2154-08		42276761	60254631	53	29436											
SECISBP2L	9728	broad.mit.edu	37	chr15	49288724	49288724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctgttccattgctgcaacCatatctttatatgctttcct	4	12	1	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:49288724C>A	ENST00000559471.1	-	17	2726	c.2463G>T	c.(2461-2463)atG>atT	p.M821I	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M776I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	821										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTGCTGCAACCATATCTTTAT	0.408													False	0	False	15:49288724	0	A	49288724	C	A	49288724	3	1	94	1	0	0	0	0	1	0	0	0	14088	594	21	3	850	3	SECISBP2L	15	49288724	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08	7011963	49288724	53242668	54	29437											
KIAA1199	57214	broad.mit.edu	37	chr15	81201475	81201475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcacacttggagggcaCggagctgaagcatatgggac	16	9	0	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:81201475C>T	ENST00000394685.3	+	14	2044	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	KIAA1199_ENST00000356249.5_Missense_Mutation_p.T542M|KIAA1199_ENST00000220244.3_Missense_Mutation_p.T542M|RP11-351M8.1_ENST00000560560.1_Intron|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	542										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGGAGGGCACGGAGCTGAAG	0.552													False	0	False	15:81201475	0	T	81201475	C	T	81201475	3	4	94	1	0	0	0	0	1	0	0	0	8263	536	19	1	1671	1	KIAA1199	15	81201475	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08	31912751	81201475	21329917	55	29438											
SLC28A1	9154	broad.mit.edu	37	chr15	85461805	85461805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatatccgttctctaccaCgtgggcctcatgcagtgggt	11	12	3	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:85461805C>T	ENST00000394573.1	+	10	1048	c.846C>T	c.(844-846)caC>caT	p.H282H	SLC28A1_ENST00000537703.1_Silent_p.H204H|SLC28A1_ENST00000286749.3_Silent_p.H282H|SLC28A1_ENST00000537216.1_Silent_p.H282H|SLC28A1_ENST00000537624.1_Silent_p.H282H|SLC28A1_ENST00000538177.1_Silent_p.H282H	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	282					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTCTCTACCACGTGGGCCTCA	0.562													False	0	False	15:85461805	0	T	85461805	C	T	85461805	2	4	94	1	0	0	0	0	0	0	0	1	14611	535	19	1		1	SLC28A1	15	85461805	Silent	SNP	C	TCGA-IB-7889-01A-11D-2154-08	4260330	85461805	17069587	56	29439											
ST8SIA2	8128	broad.mit.edu	37	chr15	92981637	92981637	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatttctgtcctaaagggAaccctgaagcctggagatat	10	9	1	2			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr15:92981637A>G	ENST00000268164.3	+	4	582	c.345A>G	c.(343-345)ggA>ggG	p.G115G	ST8SIA2_ENST00000539113.1_Silent_p.G94G	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	115					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TCCTAAAGGGAACCCTGAAGC	0.473													False	0	True	15:92981637	0	G	92981637	A	G	92981637	2	3	94	1	0	0	0	0	0	0	0	1	15314	233	9	4		4	ST8SIA2	15	92981637	Silent	SNP	A	TCGA-IB-7889-01A-11D-2154-08	7519832	92981637	9549755	57	29440											
TEPP	374739	broad.mit.edu	37	chr16	58010414	58010414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgttcctttattctgctGctgtccataataagggctcg	8	10	1	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr16:58010414G>A	ENST00000290871.5	+	1	76	c.39G>A	c.(37-39)ctG>ctA	p.L13L	TEPP_ENST00000441824.2_Silent_p.L13L	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	13						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						TTATTCTGCTGCTGTCCATAA	0.517													False	0	True	16:58010414	0	A	58010414	G	A	58010414	2	1	94	1	0	0	0	0	0	0	0	1	15842	1306	46	2		2	TEPP	16	58010414	Silent	SNP	G	TCGA-IB-7889-01A-11D-2154-08		58010414	32344339	58	29441											
ADAMTS18	170692	broad.mit.edu	37	chr16	77353780	77353780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatttgtgggccctggcGcgtacagacgttccgggcgg	15	12	1	1	rs147816593		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr16:77353780G>A	ENST00000282849.5	-	16	2916	c.2498C>T	c.(2497-2499)gCg>gTg	p.A833V		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	833	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGCCCTGGCGCGTACAGACG	0.542													False	0	False	16:77353780	0	A	77353780	G	A	77353780	3	1	94	1	0	0	0	0	1	0	0	0	263	1087	38	1	1199	1	ADAMTS18	16	77353780	Missense_Mutation	SNP	G	TCGA-IB-7889-01A-11D-2154-08	19343366	77353780	13000973	59	29442											
TP53	7157	broad.mit.edu	37	chr17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agtgctccctgggggcagctCgtggtgaggctcccctttct	14	13	1	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGGGCAGCTCGTGGTGAGGC	0.567		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)			False	0	False	17:7577046	0	A	7577046	C	A	7577046	4	1	94	1	0	0	0	0	0	1	0	0	16464	893	31	3	394	3	TP53	17	7577046	Nonsense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08		7577046	73618164	60	29443											
DRG2	1819	broad.mit.edu	37	chr17	18003681	18003681	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggggtactcttcctaggtctCtgctggagaaggagctggag	16	8	2	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:18003681C>T	ENST00000225729.3	+	6	610	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	DRG2_ENST00000395726.4_Silent_p.L158L|DRG2_ENST00000583355.1_Intron	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	158	G.				signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TCCTAGGTCTCTGCTGGAGAA	0.577													False	0	False	17:18003681	0	T	18003681	C	T	18003681	2	4	94	1	0	0	0	0	0	0	0	1	4792	912	32	2		2	DRG2	17	18003681	Silent	SNP	C	TCGA-IB-7889-01A-11D-2154-08	10426635	18003681	63191529	61	29444											
NF1	4763	broad.mit.edu	37	chr17	29576089	29576089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgccatcatcagttcctcCtcagaattcccccctcaact	3	18	4	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:29576089C>T	ENST00000358273.4	+	30	4445	c.4062C>T	c.(4060-4062)tcC>tcT	p.S1354S	NF1_ENST00000356175.3_Silent_p.S1354S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1354	Poly-Ser.|Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAGTTCCTCCTCAGAATTCC	0.398			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			False	0	False	17:29576089	0	T	29576089	C	T	29576089	2	4	94	1	0	0	0	0	0	0	0	1	10424	668	24	2		2	NF1	17	29576089	Silent	SNP	C	TCGA-IB-7889-01A-11D-2154-08	11572408	29576089	51619121	62	29445											
BPTF	2186	broad.mit.edu	37	chr17	65850550	65850550	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctacagtttctagtcgatCagtttcttacaacaaatatt	4	8	4	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:65850550C>T	ENST00000321892.4	+	2	1169	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.Q370*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.Q370*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.Q231*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	370					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTAGTCGATCAGTTTCTTAC	0.418													False	0	False	17:65850550	0	T	65850550	C	T	65850550	4	4	94	1	0	0	0	0	0	1	0	0	1502	827	29	2	1114	2	BPTF	17	65850550	Nonsense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08	36274461	65850550	15344660	63	29446											
SAP30BP	29115	broad.mit.edu	37	chr17	73664694	73664695	+	Frame_Shift_Ins	INS	-	-	AGAGTTACAAT													agaagaagaagatgagaacaINSgtagacagtcggtaggtaaa							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr17:73664694_73664695insAGAGTTACAAT	ENST00000584667.1	+	2	462_463	c.205_206insAGAGTTACAAT	c.(205-207)agtfs	p.S69fs	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Frame_Shift_Ins_p.S69fs	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	69					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGATGAGAACAGTAGACAGTCG	0.441													False	0	False	17:73664694	0	AGAGTTACAAT	73664695	-	AGAGTTACAAT	73664694	7	5	94	1	0	1	1	0	0	0	0	0	13914	188	7	0	211	0	SAP30BP	17	73664694	Frame_Shift_Ins	INS	-	TCGA-IB-7889-01A-11D-2154-08	7814144	73664694	7530516	64	29447											
HAUS1	115106	broad.mit.edu	37	chr18	43704829	43704830	+	In_Frame_Ins	INS	-	-	TAAAACACAACAAAGCATTAACATTAGTAT													agactatacctttgaagaaaINSaaattggagtcctatttaga							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr18:43704829_43704830insTAAAACACAACAAAGCATTAACATTAGTAT	ENST00000282058.6	+	7	788_789	c.708_709insTAAAACACAACAAAGCATTAACATTAGTAT	c.(709-711)aaa>TAAAACACAACAAAGCATTAACATTAGTATaaa	p.236_237ins*NTTKH*H*Y	HAUS1_ENST00000585518.1_In_Frame_Ins_p.105_105K>IKHNKALTLV*|HAUS1_ENST00000588704.1_3'UTR	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	236					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTTTGAAGAAAAAATTGGAGTC	0.351													False	0	True	18:43704829	0	TAAAACACAACAAAGCATTAACATTAGTAT	43704830	-	TAAAACACAACAAAGCATTAACATTAGTAT	43704829	7	5	94	1	0	1	1	0	0	0	0	0	7012	11	1	0	734	0	HAUS1	18	43704829	In_Frame_Ins	INS	-	TCGA-IB-7889-01A-11D-2154-08		43704829	34372419	65	29448											
SMAD4	4089	broad.mit.edu	37	chr18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggacccttctggaggagatCgcttttgtttgggtcaactc	12	9	2	1	rs80338963		TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2.		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413													False	0	False	18:48591918	0	T	48591918	C	T	48591918	3	4	94	1	0	0	0	0	1	0	0	0	14840	884	31	1	1111	1	SMAD4	18	48591918	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08	4887089	48591918	29485330	66	29449											
CDH20	28316	broad.mit.edu	37	chr18	59195270	59195270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcctcacctagagatgcGttttctgaacttgggcccat	8	12	2	2			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr18:59195270G>A	ENST00000262717.4	+	7	1486	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	CDH20_ENST00000536675.2_Missense_Mutation_p.R363H|CDH20_ENST00000538374.1_Missense_Mutation_p.R363H			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	363	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CTAGAGATGCGTTTTCTGAAC	0.473													False	0	True	18:59195270	0	A	59195270	G	A	59195270	3	1	94	1	0	0	0	0	1	0	0	0	3129	1145	40	1	1110	1	CDH20	18	59195270	Missense_Mutation	SNP	G	TCGA-IB-7889-01A-11D-2154-08	10603352	59195270	18881978	67	29450											
MUC16	94025	broad.mit.edu	37	chr19	9071237	9071237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgtctttgtaagtggcCggtctctcatgagtgatgct	13	8	3	2			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:9071237C>T	ENST00000397910.4	-	3	16412	c.16209G>A	c.(16207-16209)ccG>ccA	p.P5403P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5405	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5403P(2)|p.P1036P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTAAGTGGCCGGTCTCTCAT	0.502													False	0	False	19:9071237	0	T	9071237	C	T	9071237	2	4	94	1	0	0	0	0	0	0	0	1	10040	639	23	1		1	MUC16	19	9071237	Silent	SNP	C	TCGA-IB-7889-01A-11D-2154-08		9071237	50057746	68	29451											
CYP4F22	126410	broad.mit.edu	37	chr19	15662205	15662205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccgaacgcgcaaggtgCggcggaagccggagctcata	16	11	1	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:15662205C>T	ENST00000269703.3	+	14	1718	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R507W	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GCGCAAGGTGCGGCGGAAGCC	0.672													False	0	False	19:15662205	0	T	15662205	C	T	15662205	3	4	94	1	0	0	0	0	1	0	0	0	4214	759	27	1	1565	1	CYP4F22	19	15662205	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08	6590968	15662205	43466778	69	29452											
GRIN2D	2906	broad.mit.edu	37	chr19	48919318	48919318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcaacgaggagcgctcCgagatcgtggacttctccgt	11	13	2	1	rs148340456	byFrequency	TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:48919318C>T	ENST00000263269.3	+	7	1729	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	547						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	AGGAGCGCTCCGAGATCGTGG	0.662													False	0	False	19:48919318	0	T	48919318	C	T	48919318	2	4	94	1	0	0	0	0	0	0	0	1	6829	639	23	1		1	GRIN2D	19	48919318	Silent	SNP	C	TCGA-IB-7889-01A-11D-2154-08	33257113	48919318	10209665	70	29453											
ZNF761	388561	broad.mit.edu	37	chr19	53950474	53950474	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctaaagactcttggtaCgtgaggaagaaacccggaag	11	8	2	3			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr19:53950474C>T	ENST00000454407.1	+	0	406							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACTCTTGGTACGTGAGGAAGA	0.433													False	0	False	19:53950474	0	T	53950474	C	T	53950474	1	4	94	0	1	0	0	0	0	0	0	0	18218	551	19	1		1	ZNF761	19	53950474	RNA	SNP	C	TCGA-IB-7889-01A-11D-2154-08	5031156	53950474	5178509	71	29454											
TMX4	56255	broad.mit.edu	37	chr20	7963022	7963022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggctctacttcctccCgggtcacaccgtcctctcct	6	20	4	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr20:7963022C>T	ENST00000246024.2	-	8	1141	c.926G>A	c.(925-927)cGg>cAg	p.R309Q		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	309	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TACTTCCTCCCGGGTCACACC	0.582													False	0	True	20:7963022	0	T	7963022	C	T	7963022	3	4	94	1	0	0	0	0	1	0	0	0	16351	652	23	1	127	1	TMX4	20	7963022	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08		7963022	55062498	72	29455											
TSHZ2	128553	broad.mit.edu	37	chr20	51872260	51872260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagccagcgtgtccaggCgctacctgtttgagaacagc	13	12	1	1			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr20:51872260C>T	ENST00000371497.5	+	2	3150	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	TSHZ2_ENST00000603338.2_Missense_Mutation_p.R752C|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R752C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	755					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGTGTCCAGGCGCTACCTGTT	0.512													False	0	False	20:51872260	0	T	51872260	C	T	51872260	3	4	94	1	0	0	0	0	1	0	0	0	16707	768	27	1	2269	1	TSHZ2	20	51872260	Missense_Mutation	SNP	C	TCGA-IB-7889-01A-11D-2154-08	43909238	51872260	11153260	73	29456											
NCAM2	4685	broad.mit.edu	37	chr21	22656721	22656721	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagttttggaaatttaccGtaagtaatgtatttatatgt	8	2	0	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr21:22656721G>A	ENST00000400546.1	+	3	586		c.e3+1		NCAM2_ENST00000535285.1_Splice_Site|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_Splice_Site	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2						neuron cell-cell adhesion	integral to membrane|plasma membrane		p.?(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GAAATTTACCGTAAGTAATGT	0.294													False	0	True	21:22656721	0	A	22656721	G	A	22656721	5	1	94	1	0	0	0	0	0	0	1	0	10271	1159	40	1	348	1	NCAM2	21	22656721	Splice_Site	SNP	G	TCGA-IB-7889-01A-11D-2154-08		22656721	25473174	74	29457											
GGT1	2678	broad.mit.edu	37	chr22	25023843	25023843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctccaaggtccgctccccGgtcagcgggatcctgttcaa	12	15	2	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr22:25023843G>A	ENST00000400382.1	+	13	1988	c.1233G>A	c.(1231-1233)ccG>ccA	p.P411P	GGT1_ENST00000400380.1_Silent_p.P411P|GGT1_ENST00000400383.1_Silent_p.P411P|GGT1_ENST00000403838.1_Silent_p.P67P|GGT1_ENST00000248923.4_Silent_p.P411P|GGT1_ENST00000401885.1_Silent_p.P67P|GGT1_ENST00000406383.2_Silent_p.P411P|GGT1_ENST00000404920.1_Silent_p.P67P|GGT1_ENST00000404532.1_Silent_p.P67P|GGT1_ENST00000404223.1_Silent_p.P67P|GGT1_ENST00000466310.1_3'UTR			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	411					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCCGCTCCCCGGTCAGCGGGA	0.597													False	0	True	22:25023843	0	A	25023843	G	A	25023843	2	1	94	1	0	0	0	0	0	0	0	1	6406	1103	39	1		1	GGT1	22	25023843	Silent	SNP	G	TCGA-IB-7889-01A-11D-2154-08		25023843	26280723	75	29458											
CSNK1E	1454	broad.mit.edu	37	chr22	38690455	38690455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggggcagggctcgggtcGcggacccccgtagctgcccc	17	16	0	0			TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chr22:38690455G>A	ENST00000396832.1	-	8	1231	c.971C>T	c.(970-972)gCg>gTg	p.A324V	CSNK1E_ENST00000400206.2_Missense_Mutation_p.A324V|CSNK1E_ENST00000359867.3_Missense_Mutation_p.A324V|CSNK1E_ENST00000403904.1_Missense_Mutation_p.A324V	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	324					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GGCTCGGGTCGCGGACCCCCG	0.726													False	0	False	22:38690455	0	A	38690455	G	A	38690455	3	1	94	1	0	0	0	0	1	0	0	0	3978	1087	38	1	291	1	CSNK1E	22	38690455	Missense_Mutation	SNP	G	TCGA-IB-7889-01A-11D-2154-08	13666612	38690455	12614111	76	29459											
CXorf66	347487	broad.mit.edu	37	chrX	139038471	139038472	+	Frame_Shift_Ins	INS	-	-	TGAGGCAAAGGAGA													ggcttggatggtgagatttcINSattttgtggatgagatgaat							TCGA-IB-7889-01A-11D-2154-08	TCGA-IB-7889-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	01ca4fa5-629f-433d-ab6a-e0a8b2417ddc	273e3c23-c89d-4142-a9c3-59c5ec1224dc	g.chrX:139038471_139038472insTGAGGCAAAGGAGA	ENST00000370540.1	-	3	692_693	c.669_670insTCTCCTTTGCCTCA	c.(667-672)aatgaafs	p.E224fs		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	224						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGTGAGATTTCATTTTGTGGAT	0.441													False	0	True	X:139038471	0	TGAGGCAAAGGAGA	139038472	-	TGAGGCAAAGGAGA	139038471	7	5	94	1	0	1	1	0	0	0	0	0	4143	835	29	0	419	0	CXorf66	23	139038471	Frame_Shift_Ins	INS	-	TCGA-IB-7889-01A-11D-2154-08		139038471	16232089	77	29460											
AJAP1	55966	broad.mit.edu	37	chr1	4772349	4772349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcgtcctcgtcctccgCggtggccggtggggccccgg	16	17	0	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:4772349C>T	ENST00000378191.4	+	2	800	c.419C>T	c.(418-420)gCg>gTg	p.A140V	AJAP1_ENST00000378190.3_Missense_Mutation_p.A140V	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	140					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCGTCCTCCGCGGTGGCCGGT	0.716													False	0	False	1:4772349	0	T	4772349	C	T	4772349	3	4	95	1	0	0	0	0	1	0	0	0	438	768	27	1	425	1	AJAP1	1	4772349	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08		4772349	244478272	1	29461											
CDC42	998	broad.mit.edu	37	chr1	22405018	22405018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcgatggtgctgttggtaAaacatgtctcctgatatcct	12	8	1	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:22405018A>G	ENST00000344548.3	+	3	298	c.47A>G	c.(46-48)aAa>aGa	p.K16R	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000315554.8_Missense_Mutation_p.K16R|CDC42_ENST00000421089.2_5'UTR|CDC42_ENST00000400259.1_Missense_Mutation_p.K16R	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	16					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GCTGTTGGTAAAACATGTCTC	0.358													False	0	True	1:22405018	0	G	22405018	A	G	22405018	3	3	95	1	0	0	0	0	1	0	0	0	3094	14	1	4	49	4	CDC42	1	22405018	Missense_Mutation	SNP	A	TCGA-IB-7890-01A-12D-2201-08	17632669	22405018	226845603	2	29462											
GLMN	11146	broad.mit.edu	37	chr1	92737124	92737124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttattttcttcttcttcaAattcaaggtaattccaagtt	4	7	5	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:92737124A>G	ENST00000370360.3	-	8	902	c.821T>C	c.(820-822)tTt>tCt	p.F274S	GLMN_ENST00000534881.1_Missense_Mutation_p.F274S	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	274	Poly-Glu.				muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTCTTCTTCAAATTCAAGGTA	0.353									Multiple Glomus Tumors (of the Skin), Familial				False	0	True	1:92737124	0	G	92737124	A	G	92737124	3	3	95	1	0	0	0	0	1	0	0	0	6493	14	1	4	1011	4	GLMN	1	92737124	Missense_Mutation	SNP	A	TCGA-IB-7890-01A-12D-2201-08	70332106	92737124	156513497	3	29463											
HSD3B1	3283	broad.mit.edu	37	chr1	120056677	120056677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggaatctgaaaaacggCggcaccctgtacacttgtgc	13	10	1	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:120056677C>T	ENST00000235547.6	+	4	676	c.537C>T	c.(535-537)ggC>ggT	p.G179G	HSD3B1_ENST00000369413.3_Silent_p.G177G|HSD3B1_ENST00000528909.1_Silent_p.G177G	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	177					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGAAAAACGGCGGCACCCTGT	0.512													False	0	False	1:120056677	0	T	120056677	C	T	120056677	2	4	95	1	0	0	0	0	0	0	0	1	7437	755	27	1		1	HSD3B1	1	120056677	Silent	SNP	C	TCGA-IB-7890-01A-12D-2201-08	27319553	120056677	129193944	4	29464											
CR1	1378	broad.mit.edu	37	chr1	207737334	207737335	+	Frame_Shift_Ins	INS	-	-	GATCGGAAGAGCACACG													cctcagaggggctgcgtctaINStgcgctgcacaccccaggga							TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:207737334_207737335insGATCGGAAGAGCACACG	ENST00000367049.4	+	22	3712_3713	c.3712_3713insGATCGGAAGAGCACACG	c.(3712-3714)atgfs	p.M1238fs	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Frame_Shift_Ins_p.M788fs|CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Frame_Shift_Ins_p.M788fs|CR1_ENST00000367053.1_Frame_Shift_Ins_p.M788fs	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	788	Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGCTGCGTCTATGCGCTGCACA	0.545													False	0	False	1:207737334	0	GATCGGAAGAGCACACG	207737335	-	GATCGGAAGAGCACACG	207737334	7	5	95	1	0	1	1	0	0	0	0	0	3863	449	16	0	3798	0	CR1	1	207737334	Frame_Shift_Ins	INS	-	TCGA-IB-7890-01A-12D-2201-08	87680657	207737334	41513287	5	29465											
FMN2	56776	broad.mit.edu	37	chr1	240370125	240370125	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgacatgaagtctgagggAcaggccactgtaattcagca	12	8	2	3			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:240370125A>G	ENST00000319653.9	+	5	2243	c.2013A>G	c.(2011-2013)ggA>ggG	p.G671G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	671					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGTCTGAGGGACAGGCCACTG	0.433													False	0	True	1:240370125	0	G	240370125	A	G	240370125	2	3	95	1	0	0	0	0	0	0	0	1	5990	262	10	4		4	FMN2	1	240370125	Silent	SNP	A	TCGA-IB-7890-01A-12D-2201-08	32632791	240370125	8880496	6	29466											
PKDCC	91461	broad.mit.edu	37	chr2	42281326	42281326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcacgtgtggaggagacgCcgtgtgcaggcagcaccgac	16	12	0	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:42281326C>T	ENST00000294964.5	+	3	1093	c.913C>T	c.(913-915)Ccg>Tcg	p.P305S		NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	305	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						GGAGGAGACGCCGTGTGCAGG	0.637													False	0	False	2:42281326	0	T	42281326	C	T	42281326	3	4	95	1	0	0	0	0	1	0	0	0	12038	739	26	2	923	2	PKDCC	2	42281326	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08		42281326	200918047	7	29467											
AAK1	22848	broad.mit.edu	37	chr2	69741760	69741765	+	In_Frame_Del	DEL	TGTTGC	TGTTGC	-													gctgttgctgttgctgttgtTgttgctgctgctgctgctgc					rs77547121		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	TGTTGC	TGTTGC	-	-	TGTTGC	TGTTGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:69741760_69741765delTGTTGC	ENST00000409085.4	-	13	1990_1995	c.1614_1619delGCAACA	c.(1612-1620)cagcaacaa>caa	p.538_540QQQ>Q	AAK1_ENST00000409068.1_In_Frame_Del_p.538_540QQQ>Q|AAK1_ENST00000406297.3_In_Frame_Del_p.538_540QQQ>Q	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	538	Gln-rich.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.Q538Q(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ttgctgttgttgttgctgctgctgct	0.544													False	1	True	2:69741760	0	-	69741765	TGTTGC	-	69741760	7	5	95	1	0	1	0	1	0	0	0	0	16	1812	63	0	1306	0	AAK1	2	69741760	In_Frame_Del	DEL	TGTTGC	TCGA-IB-7890-01A-12D-2201-08	27460434	69741760	173457613	8	29468											
ALMS1	7840	broad.mit.edu	37	chr2	73675916	73675916	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagctgaccagaagacTgagataccagcagtacagtc	11	11	0	4			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:73675916T>C	ENST00000264448.6	+	8	2370	c.2259T>C	c.(2257-2259)acT>acC	p.T753T	ALMS1_ENST00000377715.1_Silent_p.T753T|ALMS1_ENST00000409009.1_Silent_p.T711T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	753	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACCAGAAGACTGAGATACCAG	0.443													False	0	False	2:73675916	0	C	73675916	T	C	73675916	2	2	95	1	0	0	0	0	0	0	0	1	535	1567	55	4		4	ALMS1	2	73675916	Silent	SNP	T	TCGA-IB-7890-01A-12D-2201-08	3934156	73675916	169523457	9	29469											
CIAO1	9391	broad.mit.edu	37	chr2	96933171	96933171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgccagctttgatgctacCacttgcatttggaagaagaa	9	9	1	3			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:96933171C>T	ENST00000488633.1	+	2	471	c.252C>T	c.(250-252)acC>acT	p.T84T	CIAO1_ENST00000469320.1_3'UTR	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	84					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						TTGATGCTACCACTTGCATTT	0.552													False	0	False	2:96933171	0	T	96933171	C	T	96933171	2	4	95	1	0	0	0	0	0	0	0	1	3441	581	21	2		2	CIAO1	2	96933171	Silent	SNP	C	TCGA-IB-7890-01A-12D-2201-08	23257255	96933171	146266202	10	29470											
BUB1	699	broad.mit.edu	37	chr2	111399371	111399371	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaattcccaggggttggcagGcttttggacctgcaaatcag	13	9	1	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:111399371G>T	ENST00000535254.1	-	20	2480	c.2413C>A	c.(2413-2415)Cct>Act	p.P805T	BUB1_ENST00000409311.1_Missense_Mutation_p.P825T|BUB1_ENST00000302759.6_Missense_Mutation_p.P825T|BUB1_ENST00000478175.1_5'UTR	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	825	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGGTTGGCAGGCTTTTGGACC	0.398													False	0	False	2:111399371	0	T	111399371	G	T	111399371	3	4	95	1	0	0	0	0	1	0	0	0	1577	1203	42	3	804	3	BUB1	2	111399371	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	14466200	111399371	131800002	11	29471											
GAD1	2571	broad.mit.edu	37	chr2	171687567	171687567	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catttgatcgctccaccaagGtgctggactttcatcaccca	7	14	2	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:171687567G>T	ENST00000358196.3	+	5	962	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L	GAD1_ENST00000375272.1_Missense_Mutation_p.V138L|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.V138L	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	138					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTCCACCAAGGTGCTGGACTT	0.547													False	0	False	2:171687567	0	T	171687567	G	T	171687567	3	4	95	1	0	0	0	0	1	0	0	0	6221	1261	44	3	426	3	GAD1	2	171687567	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	60288196	171687567	71511806	12	29472											
DCAF17	80067	broad.mit.edu	37	chr2	172330428	172330428	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttctctagaatctgactggaTctatttccatcctgatgctt	6	10	3	3			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:172330428T>A	ENST00000375255.3	+	10	1361	c.1034T>A	c.(1033-1035)aTc>aAc	p.I345N	DCAF17_ENST00000539783.1_Intron|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	345						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TCTGACTGGATCTATTTCCAT	0.348													False	0	False	2:172330428	0	A	172330428	T	A	172330428	3	1	95	1	0	0	0	0	1	0	0	0	4294	1435	50	5	1072	5	DCAF17	2	172330428	Missense_Mutation	SNP	T	TCGA-IB-7890-01A-12D-2201-08	642861	172330428	70868945	13	29473											
TTN	7273	broad.mit.edu	37	chr2	179638314	179638314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcacaatggcctgtacaCggtcatcaggcttgatttgt	9	10	3	1	rs148920986	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:179638314C>T	ENST00000589042.1	-	32	7693	c.7469G>A	c.(7468-7470)cGt>cAt	p.R2490H	TTN_ENST00000342992.6_Missense_Mutation_p.R2490H|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R2444H|TTN_ENST00000460472.2_Missense_Mutation_p.R2444H|TTN_ENST00000342175.6_Missense_Mutation_p.R2444H|TTN_ENST00000591111.1_Missense_Mutation_p.R2490H|TTN_ENST00000360870.5_Missense_Mutation_p.R2490H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2219	Ig-like 14.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCTGTACACGGTCATCAGG	0.438													False	0	False	2:179638314	0	T	179638314	C	T	179638314	3	4	95	1	0	0	0	0	1	0	0	0	16819	536	19	1	103843	1	TTN	2	179638314	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	7307886	179638314	63561059	14	29474											
ZNF804A	91752	broad.mit.edu	37	chr2	185801329	185801329	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccgagacattggccccttcAaatactgaagaggttaacat	8	11	1	3			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:185801329A>G	ENST00000302277.6	+	4	1800	c.1206A>G	c.(1204-1206)tcA>tcG	p.S402S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	402						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGGCCCCTTCAAATACTGAAG	0.388													False	0	True	2:185801329	0	G	185801329	A	G	185801329	2	3	95	1	0	0	0	0	0	0	0	1	18252	117	5	4		4	ZNF804A	2	185801329	Silent	SNP	A	TCGA-IB-7890-01A-12D-2201-08	6163015	185801329	57398044	15	29475											
ZNF385D	79750	broad.mit.edu	37	chr3	21462858	21462858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcactgccactgctgctgCggctgctgcagctgctagag	12	14	1	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:21462858C>T	ENST00000281523.2	-	8	1554	c.1036G>A	c.(1036-1038)Gca>Aca	p.A346T		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	346	Poly-Ala.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						actgctgctgcggctgctgca	0.517													False	0	True	3:21462858	0	T	21462858	C	T	21462858	3	4	95	1	0	0	0	0	1	0	0	0	17961	768	27	1	155	1	ZNF385D	3	21462858	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08		21462858	176559572	16	29476											
GLB1	2720	broad.mit.edu	37	chr3	33038656	33038656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaataactggcctgtccaCgaacgtcacagcacatagtt	8	13	1	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:33038656C>T	ENST00000307363.5	-	16	2059	c.1915G>A	c.(1915-1917)Gtg>Atg	p.V639M	GLB1_ENST00000307377.8_Missense_Mutation_p.V508M|GLB1_ENST00000399402.3_Missense_Mutation_p.V609M|GLB1_ENST00000445488.2_Missense_Mutation_p.V687M	NM_000404.2	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1	639					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GGCCTGTCCACGAACGTCACA	0.527													False	0	False	3:33038656	0	T	33038656	C	T	33038656	3	4	95	1	0	0	0	0	1	0	0	0	6472	536	19	1	122	1	GLB1	3	33038656	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	11575798	33038656	164983774	17	29477											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	11	14	1	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572													False	0	True	3:129370592	0	A	129370592	T	A	129370592	3	1	95	1	0	0	0	0	1	0	0	0	16074	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-IB-7890-01A-12D-2201-08	96331936	129370592	68651838	18	29478											
IGSF10	285313	broad.mit.edu	37	chr3	151155880	151155880	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acagtcaaggacagctgtgtCtccagctttgattctcttgt	9	10	3	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:151155880C>A	ENST00000282466.3	-	6	6468	c.6469G>T	c.(6469-6471)Gac>Tac	p.D2157Y	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2157	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAGCTGTGTCTCCAGCTTTG	0.443													False	0	False	3:151155880	0	A	151155880	C	A	151155880	3	1	95	1	0	0	0	0	1	0	0	0	7647	913	32	3	1406	3	IGSF10	3	151155880	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	21785288	151155880	46866550	19	29479											
CCDC39	339829	broad.mit.edu	37	chr3	180334120	180334120	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagagctctgacgactgcctTttgtgctagctgtaggtagt	12	8	1	2			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:180334120T>G	ENST00000442201.2	-	19	2737	c.2618A>C	c.(2617-2619)aAa>aCa	p.K873T	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	873	Ser-rich.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACGACTGCCTTTTGTGCTAGC	0.373													False	0	True	3:180334120	0	G	180334120	T	G	180334120	3	3	95	1	0	0	0	0	1	0	0	0	2832	1841	64	4	215	4	CCDC39	3	180334120	Missense_Mutation	SNP	T	TCGA-IB-7890-01A-12D-2201-08	29178240	180334120	17688310	20	29480											
AGPAT9	84803	broad.mit.edu	37	chr4	84508424	84508424	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcagggttaccttggctttcAttgggatcagtttgctggtt	12	7	3	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr4:84508424A>T	ENST00000395226.2	+	5	714	c.496A>T	c.(496-498)Att>Ttt	p.I166F	AGPAT9_ENST00000264409.4_Missense_Mutation_p.I166F	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	166					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CTTGGCTTTCATTGGGATCAG	0.398													False	0	False	4:84508424	0	T	84508424	A	T	84508424	3	4	95	1	0	0	0	0	1	0	0	0	392	217	8	5	510	5	AGPAT9	4	84508424	Missense_Mutation	SNP	A	TCGA-IB-7890-01A-12D-2201-08		84508424	106645852	21	29481											
COL25A1	84570	broad.mit.edu	37	chr4	109784536	109784536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaggccctgcttcccccCgttcaccctgtcacaaattg	8	17	2	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr4:109784536C>T	ENST00000399132.1	-	21	1621	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	COL25A1_ENST00000399127.1_Missense_Mutation_p.R360Q|COL25A1_ENST00000399126.1_Missense_Mutation_p.R364Q	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	364	Collagen-like 4.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TGCTTCCCCCCGTTCACCCTG	0.502													False	0	True	4:109784536	0	T	109784536	C	T	109784536	3	4	95	1	0	0	0	0	1	0	0	0	3707	652	23	1	1029	1	COL25A1	4	109784536	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	25276112	109784536	81369740	22	29482											
GPR98	84059	broad.mit.edu	37	chr5	89977223	89977223	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttagccctgagtcactcttTgtcagtggaactgaaccaga	9	10	3	3			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:89977223T>C	ENST00000405460.2	+	27	5712	c.5616T>C	c.(5614-5616)ttT>ttC	p.F1872F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1872					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTCACTCTTTGTCAGTGGAA	0.423													False	0	True	5:89977223	0	C	89977223	T	C	89977223	2	2	95	1	0	0	0	0	0	0	0	1	6768	1809	63	4		4	GPR98	5	89977223	Silent	SNP	T	TCGA-IB-7890-01A-12D-2201-08		89977223	90938037	23	29483											
EGR1	1958	broad.mit.edu	37	chr5	137801526	137801526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttcggatcctttcctcacTcgcccaccatggacaactac	6	17	1	0	rs149170181	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:137801526T>C	ENST00000239938.4	+	1	348	c.76T>C	c.(76-78)Tcg>Ccg	p.S26P		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	26					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTTTCCTCACTCGCCCACCAT	0.662													False	0	False	5:137801526	0	C	137801526	T	C	137801526	3	2	95	1	0	0	0	0	1	0	0	0	5001	1551	54	4	78	4	EGR1	5	137801526	Missense_Mutation	SNP	T	TCGA-IB-7890-01A-12D-2201-08	47824303	137801526	43113734	24	29484											
PCDHGA6	0	broad.mit.edu	37	chr5	140755877	140755877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctcgcactttgtgggcGtggaaggggttcgggctttc	17	10	0	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:140755877G>A	ENST00000517434.1	+	1	2227	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.V743M(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTGGGCGTGGAAGGGGT	0.612													False	0	False	5:140755877	0	A	140755877	G	A	140755877	3	1	95	1	0	0	0	0	1	0	0	0	11626	1145	40	1	2229	1	PCDHGA6	5	140755877	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	2954351	140755877	40159383	25	29485											
GPR151	134391	broad.mit.edu	37	chr5	145895652	145895652	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attcatgctgctggagttagAgtctgcaaaggcagctgcca	12	9	2	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:145895652A>C	ENST00000311104.2	-	1	101	c.25T>G	c.(25-27)Tct>Gct	p.S9A		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	9						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGTTAGAGTCTGCAAAG	0.498													False	0	False	5:145895652	0	C	145895652	A	C	145895652	3	2	95	1	0	0	0	0	1	0	0	0	6703	304	11	4	1238	4	GPR151	5	145895652	Missense_Mutation	SNP	A	TCGA-IB-7890-01A-12D-2201-08	5139775	145895652	35019608	26	29486											
RNF145	153830	broad.mit.edu	37	chr5	158601072	158601072	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggagtaaatctgaagagcaAataagacgagccagaaaacc	10	7	1	4			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:158601072A>T	ENST00000424310.2	-	6	1075	c.716T>A	c.(715-717)tTt>tAt	p.F239Y	RNF145_ENST00000519865.1_Missense_Mutation_p.F239Y|RNF145_ENST00000274542.2_Missense_Mutation_p.F267Y|RNF145_ENST00000520638.1_Missense_Mutation_p.F253Y|RNF145_ENST00000521606.2_Missense_Mutation_p.F256Y|RNF145_ENST00000518802.1_Missense_Mutation_p.F269Y	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	239						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGAAGAGCAAATAAGACGAG	0.428													False	0	True	5:158601072	0	T	158601072	A	T	158601072	3	4	95	1	0	0	0	0	1	0	0	0	13526	14	1	5	1299	5	RNF145	5	158601072	Missense_Mutation	SNP	A	TCGA-IB-7890-01A-12D-2201-08	12705420	158601072	22314188	27	29487											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	95	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-7890-01A-12D-2201-08		7393450	163721617	28	29488											
GCM2	9247	broad.mit.edu	37	chr6	10882008	10882008	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacacgccgaccgcttcctGcaccgcggccgccggcatct	11	20	1	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:10882008G>A	ENST00000379491.4	-	1	166	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	7					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				ACCGCTTCCTGCACCGCGGCC	0.602													False	0	False	6:10882008	0	A	10882008	G	A	10882008	4	1	95	1	0	0	0	0	0	1	0	0	6341	1328	46	2	1521	2	GCM2	6	10882008	Nonsense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	3488558	10882008	160233059	29	29489											
NRSN1	140767	broad.mit.edu	37	chr6	24146060	24146060	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagaagtttaaagaacgaatCgcagacatcaaagcccacac	7	11	1	3			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:24146060C>T	ENST00000378491.4	+	4	775	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	158					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.I158I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AAGAACGAATCGCAGACATCA	0.498													False	0	False	6:24146060	0	T	24146060	C	T	24146060	2	4	95	1	0	0	0	0	0	0	0	1	10730	874	31	1		1	NRSN1	6	24146060	Silent	SNP	C	TCGA-IB-7890-01A-12D-2201-08	13264052	24146060	146969007	30	29490											
SRPK1	6732	broad.mit.edu	37	chr6	35810348	35810348	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcttcccctgaatgaggttCaaacaaatagtcacctgtgg	8	11	3	2			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:35810348C>T	ENST00000373825.2	-	14	1939	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	SRPK1_ENST00000423325.2_Missense_Mutation_p.E536K|SRPK1_ENST00000373822.1_Missense_Mutation_p.E444K			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	552	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.E551Q(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GAATGAGGTTCAAACAAATAG	0.418													False	0	True	6:35810348	0	T	35810348	C	T	35810348	3	4	95	1	0	0	0	0	1	0	0	0	15241	835	29	2	325	2	SRPK1	6	35810348	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	11664288	35810348	135304719	31	29491											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	95	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-IB-7890-01A-12D-2201-08		44153778	114984885	32	29492											
TRRAP	8295	broad.mit.edu	37	chr7	98609827	98609827	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagccagcaactggtgtcccTggttcagaaagccgtcaccg	11	14	2	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr7:98609827T>A	ENST00000359863.4	+	72	11638	c.11429T>A	c.(11428-11430)cTg>cAg	p.L3810Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.L3799Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.L3781Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3810	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGTGTCCCTGGTTCAGAAA	0.597													False	0	True	7:98609827	0	A	98609827	T	A	98609827	3	1	95	1	0	0	0	0	1	0	0	0	16684	1580	55	5	11620	5	TRRAP	7	98609827	Missense_Mutation	SNP	T	TCGA-IB-7890-01A-12D-2201-08	54456049	98609827	60528836	33	29493											
GPR124	25960	broad.mit.edu	37	chr8	37692836	37692836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaccccccacctgagcccGagcccccagctgaccagcag	9	20	0	3			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:37692836G>A	ENST00000412232.2	+	12	1766	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	585					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACCTGAGCCCGAGCCCCCAGC	0.687													False	0	True	8:37692836	0	A	37692836	G	A	37692836	3	1	95	1	0	0	0	0	1	0	0	0	6684	1059	37	1	1778	1	GPR124	8	37692836	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08		37692836	108671186	34	29494											
PRKDC	5591	broad.mit.edu	37	chr8	48790345	48790345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgacatgctgctgttccCgacaaagaacttctgtcatc	7	13	2	2			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:48790345C>T	ENST00000314191.2	-	41	5356	c.5300G>A	c.(5299-5301)cGg>cAg	p.R1767Q	PRKDC_ENST00000338368.3_Missense_Mutation_p.R1767Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1768					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGCTGTTCCCGACAAAGAAC	0.383								Non-homologous end-joining					False	0	True	8:48790345	0	T	48790345	C	T	48790345	3	4	95	1	0	0	0	0	1	0	0	0	12597	652	23	1	7271	1	PRKDC	8	48790345	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	11097509	48790345	97573677	35	29495											
PXDNL	137902	broad.mit.edu	37	chr8	52321614	52321614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgaagagcatgcagggcGcgtgggtgccccgggggtcg	21	11	0	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:52321614G>A	ENST00000356297.4	-	17	2670	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	PXDNL_ENST00000543296.1_Missense_Mutation_p.A857V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	857					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATGCAGGGCGCGTGGGTGCC	0.682													False	0	False	8:52321614	0	A	52321614	G	A	52321614	3	1	95	1	0	0	0	0	1	0	0	0	12927	1087	38	1	1849	1	PXDNL	8	52321614	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	3531269	52321614	94042408	36	29496											
FAM83H	286077	broad.mit.edu	37	chr8	144808660	144808660	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggttggccgttctcctGcggcactgggaagccaccct	13	15	1	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:144808660G>A	ENST00000388913.3	-	5	3096	c.2971C>T	c.(2971-2973)Cag>Tag	p.Q991*		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	991					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCGTTCTCCTGCGGCACTGGG	0.692													False	0	False	8:144808660	0	A	144808660	G	A	144808660	4	1	95	1	0	0	0	0	0	1	0	0	5680	1328	46	2	572	2	FAM83H	8	144808660	Nonsense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	92487046	144808660	1555362	37	29497											
EPPK1	83481	broad.mit.edu	37	chr8	144945204	144945204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccggtaggccacgtccaCgggcacgcggtggctgtgca	17	14	0	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:144945204C>T	ENST00000525985.1	-	2	2289	c.2218G>A	c.(2218-2220)Gtg>Atg	p.V740M				P58107	EPIPL_HUMAN	epiplakin 1	740						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCACGTCCACGGGCACGCGG	0.657													False	0	True	8:144945204	0	T	144945204	C	T	144945204	3	4	95	1	0	0	0	0	1	0	0	0	5222	536	19	1	5048	1	EPPK1	8	144945204	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	136544	144945204	1418818	38	29498											
C9orf89	84270	broad.mit.edu	37	chr9	95875280	95875280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtcttctagaccccaAgggcctgccagggacccggc	11	15	2	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:95875280A>G	ENST00000375464.2	+	6	571	c.443A>G	c.(442-444)aAg>aGg	p.K148R	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	155					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CTAGACCCCAAGGGCCTGCCA	0.602													False	0	True	9:95875280	0	G	95875280	A	G	95875280	3	3	95	1	0	0	0	0	1	0	0	0	2523	72	3	4	465	4	C9orf89	9	95875280	Missense_Mutation	SNP	A	TCGA-IB-7890-01A-12D-2201-08		95875280	45338151	39	29499											
COL27A1	85301	broad.mit.edu	37	chr9	117062960	117062960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccctcgggggccacctgGcttgatggtgagttccctcc	15	14	0	2			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:117062960G>A	ENST00000356083.3	+	51	5085	c.4694G>A	c.(4693-4695)gGc>gAc	p.G1565D		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1565	Collagen-like 16.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGCCACCTGGCTTGATGGTG	0.612													False	0	False	9:117062960	0	A	117062960	G	A	117062960	3	1	95	1	0	0	0	0	1	0	0	0	3708	1203	42	2	4896	2	COL27A1	9	117062960	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	21187680	117062960	24150471	40	29500											
ABO	28	broad.mit.edu	37	chr9	136131622	136131622	+	RNA	DEL	T	T	-													cactgacagctgccgaccggTccccagcgtcacgcggggca					rs56284703		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:136131622delT	ENST00000453660.2	-	0	506							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TGCCGACCGGTCCCCAGCGTC	0.662													False	1	True	9:136131622	0	-	136131622	T	-	136131622	6	5	95	0	1	1	0	1	0	0	0	0	97	1667	58	0		0	ABO	9	136131622	RNA	DEL	T	TCGA-IB-7890-01A-12D-2201-08	19068662	136131622	5081809	41	29501											
FBXW5	54461	broad.mit.edu	37	chr9	139838442	139838442	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgccattggcggcacaCcagcccggcggccagcacgt	14	17	0	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:139838442C>G	ENST00000325285.3	-	2	173	c.94G>C	c.(94-96)Gtg>Ctg	p.V32L	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	32	F-box.						catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGCGGCACACCAGCCCGGCG	0.701													False	0	False	9:139838442	0	G	139838442	C	G	139838442	3	3	95	1	0	0	0	0	1	0	0	0	5808	507	18	5	1638	5	FBXW5	9	139838442	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	3706820	139838442	1374989	42	29502											
C10orf62	414157	broad.mit.edu	37	chr10	99350210	99350210	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaatttcctcacccagCgggaaaacaccatagctggt	8	11	1	1	rs145450971	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:99350210C>A	ENST00000370640.3	+	1	761	c.556C>A	c.(556-558)Cgg>Agg	p.R186R	PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370646.4_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	186							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		CCTCACCCAGCGGGAAAACAC	0.567													False	0	True	10:99350210	0	A	99350210	C	A	99350210	2	1	95	1	0	0	0	0	0	0	0	1	1619	759	27	3		3	C10orf62	10	99350210	Silent	SNP	C	TCGA-IB-7890-01A-12D-2201-08		99350210	36184537	43	29503											
DNMBP	23268	broad.mit.edu	37	chr10	101716827	101716827	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctgaaacagggcgctctggGagtgccactgccggctctgt	14	12	3	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:101716827G>T	ENST00000342239.3	-	4	495	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.S135Y			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	135					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGCGCTCTGGGAGTGCCACTG	0.617													False	0	True	10:101716827	0	T	101716827	G	T	101716827	3	4	95	1	0	0	0	0	1	0	0	0	4704	1174	41	3	4385	3	DNMBP	10	101716827	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	2366617	101716827	33817920	44	29504											
PWWP2B	170394	broad.mit.edu	37	chr10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gggttcagccccccgagaccAcccgccccgagccacccccg	10	23	1	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756													False	0	True	10:134218293	0	C	134218293	A	C	134218293	3	2	95	1	0	0	0	0	1	0	0	0	12925	159	6	4	295	4	PWWP2B	10	134218293	Missense_Mutation	SNP	A	TCGA-IB-7890-01A-12D-2201-08	32501466	134218293	1316454	45	29505											
OR52K2	119774	broad.mit.edu	37	chr11	4471098	4471098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgccgaggcccagtgatcGctcactgctactgtgaacac	10	14	1	2			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:4471098G>A	ENST00000325719.4	+	1	574	c.529G>A	c.(529-531)Gct>Act	p.A177T		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCAGTGATCGCTCACTGCTA	0.547													False	0	False	11:4471098	0	A	4471098	G	A	4471098	3	1	95	1	0	0	0	0	1	0	0	0	11192	1087	38	1	531	1	OR52K2	11	4471098	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08		4471098	130535418	46	29506											
RTN3	10313	broad.mit.edu	37	chr11	63472339	63472339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagattcctttgtttcttcCtcttcctctcagcctgtatc	4	14	4	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:63472339C>T	ENST00000377819.5	+	2	313	c.159C>T	c.(157-159)tcC>tcT	p.S53S	RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Intron|RTN3_ENST00000538995.1_Intron|RTN3_ENST00000356000.3_Silent_p.S53S|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	53					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTGTTTCTTCCTCTTCCTCTC	0.363													False	0	True	11:63472339	0	T	63472339	C	T	63472339	2	4	95	1	0	0	0	0	0	0	0	1	13806	668	24	2		2	RTN3	11	63472339	Silent	SNP	C	TCGA-IB-7890-01A-12D-2201-08	59001241	63472339	71534177	47	29507											
TMEM151A	256472	broad.mit.edu	37	chr11	66062807	66062807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagctactcggaggccGtggtcatgggcgcgggctcg	17	13	1	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:66062807G>A	ENST00000327259.4	+	2	1234	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	364						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CTCGGAGGCCGTGGTCATGGG	0.731													False	0	False	11:66062807	0	A	66062807	G	A	66062807	3	1	95	1	0	0	0	0	1	0	0	0	16152	1145	40	1	1096	1	TMEM151A	11	66062807	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	2590468	66062807	68943709	48	29508											
EED	8726	broad.mit.edu	37	chr11	85967469	85967469	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgcatggacctatgataGcaatacgagccatcctctgc	9	11	1	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:85967469G>C	ENST00000263360.6	+	5	1153	c.467G>C	c.(466-468)aGc>aCc	p.S156T	EED_ENST00000327320.4_Missense_Mutation_p.S156T|EED_ENST00000528180.1_Missense_Mutation_p.S156T|EED_ENST00000351625.6_Missense_Mutation_p.S156T	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	156	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ACCTATGATAGCAATACGAGC	0.353													False	0	False	11:85967469	0	C	85967469	G	C	85967469	3	2	95	1	0	0	0	0	1	0	0	0	4952	971	34	5	485	5	EED	11	85967469	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	19904662	85967469	49039047	49	29509											
SIK3	23387	broad.mit.edu	37	chr11	116729339	116729339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagctgctgggggaaccccGggactggtccgaaaacagat	15	10	0	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:116729339G>A	ENST00000375300.1	-	20	2703	c.2698C>T	c.(2698-2700)Cgg>Tgg	p.R900W	SIK3_ENST00000434315.2_Intron|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.R842W			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	842	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGGGAACCCCGGGACTGGTCC	0.567													False	0	True	11:116729339	0	A	116729339	G	A	116729339	3	1	95	1	0	0	0	0	1	0	0	0	14400	1115	39	1	1283	1	SIK3	11	116729339	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	30761870	116729339	18277177	50	29510											
ESAM	90952	broad.mit.edu	37	chr11	124623837	124623837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgggccagggcagggtcCggggagcaatggcatcctcc	16	12	1	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:124623837C>T	ENST00000278927.5	-	7	1007	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	293					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGGCAGGGTCCGGGGAGCAAT	0.567													False	0	True	11:124623837	0	T	124623837	C	T	124623837	3	4	95	1	0	0	0	0	1	0	0	0	5279	652	23	1	298	1	ESAM	11	124623837	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	7894498	124623837	10382679	51	29511											
NTF3	4908	broad.mit.edu	37	chr12	5603687	5603687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagacgctacaactcaccgCgggtcctgctgagcgacagc	12	14	1	2			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:5603687C>T	ENST00000423158.3	+	2	558	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.R103W	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	103					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CAACTCACCGCGGGTCCTGCT	0.642													False	0	True	12:5603687	0	T	5603687	C	T	5603687	3	4	95	1	0	0	0	0	1	0	0	0	10764	759	27	1	352	1	NTF3	12	5603687	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08		5603687	128248208	52	29512											
LPCAT3	10162	broad.mit.edu	37	chr12	7091020	7091020	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggcattgtccacttgatatCgtagttgccggtggcagtgt	13	8	0	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:7091020C>A	ENST00000261407.4	-	4	497	c.412G>T	c.(412-414)Gat>Tat	p.D138Y		NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	138					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						CACTTGATATCGTAGTTGCCG	0.473													False	0	False	12:7091020	0	A	7091020	C	A	7091020	3	1	95	1	0	0	0	0	1	0	0	0	8974	884	31	3	1087	3	LPCAT3	12	7091020	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	1487333	7091020	126760875	53	29513											
KRAS	3845	broad.mit.edu	37	chr12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcactgtactcctctTgacctgctgtgtcgagaata	8	11	2	2	rs121913240		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:25380276T>C	ENST00000311936.3	-	3	373	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25380276	0	C	25380276	T	C	25380276	3	2	95	1	0	0	0	0	1	0	0	0	8488	1812	63	4	520	4	KRAS	12	25380276	Missense_Mutation	SNP	T	TCGA-IB-7890-01A-12D-2201-08	18289256	25380276	108471619	54	29514											
GIT2	9815	broad.mit.edu	37	chr12	110390957	110390957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcttcgtctgatgccacGctgtcatagtcgggctgatc	12	11	3	2			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:110390957G>A	ENST00000360185.4	-	13	1346	c.1182C>T	c.(1180-1182)agC>agT	p.S394S	GIT2_ENST00000356259.4_Silent_p.S394S|GIT2_ENST00000354574.4_Silent_p.S396S|GIT2_ENST00000338373.5_Silent_p.S394S|GIT2_ENST00000457474.2_Silent_p.S396S|GIT2_ENST00000553118.1_Silent_p.S394S|GIT2_ENST00000547815.1_Silent_p.S394S|GIT2_ENST00000551209.1_Silent_p.S393S|GIT2_ENST00000320063.9_Silent_p.S394S|GIT2_ENST00000343646.5_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000361006.5_Silent_p.S394S|GIT2_ENST00000355312.3_Silent_p.S394S	NM_014776.3	NP_055591.2	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	394					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CTGATGCCACGCTGTCATAGT	0.488													False	0	False	12:110390957	0	A	110390957	G	A	110390957	2	1	95	1	0	0	0	0	0	0	0	1	6442	1078	38	1		1	GIT2	12	110390957	Silent	SNP	G	TCGA-IB-7890-01A-12D-2201-08	85010681	110390957	23460938	55	29515											
LCP1	3936	broad.mit.edu	37	chr13	46701838	46701838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acactcttgctccaatttttCgggccatagagatggcatat	8	10	1	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr13:46701838C>T	ENST00000398576.2	-	19	2160	c.1772G>A	c.(1771-1773)cGa>cAa	p.R591Q	LCP1_ENST00000435666.2_Missense_Mutation_p.R160Q|LCP1_ENST00000323076.2_Missense_Mutation_p.R591Q			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	591	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCCAATTTTTCGGGCCATAGA	0.488			T	BCL6	NHL								False	0	True	13:46701838	0	T	46701838	C	T	46701838	3	4	95	1	0	0	0	0	1	0	0	0	8742	884	31	1	115	1	LCP1	13	46701838	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08		46701838	68468040	56	29516											
TMTC4	84899	broad.mit.edu	37	chr13	101289837	101289837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggccgggttgtccacctcGgtgaaggccggcgggcccgt	18	13	0	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr13:101289837G>A	ENST00000342624.5	-	9	1212	c.954C>T	c.(952-954)acC>acT	p.T318T	TMTC4_ENST00000328767.5_Silent_p.T188T|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Silent_p.T299T	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	299						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTCCACCTCGGTGAAGGCCG	0.642													False	0	False	13:101289837	0	A	101289837	G	A	101289837	2	1	95	1	0	0	0	0	0	0	0	1	16345	1103	39	1		1	TMTC4	13	101289837	Silent	SNP	G	TCGA-IB-7890-01A-12D-2201-08	54587999	101289837	13880041	57	29517											
SLC8A3	6547	broad.mit.edu	37	chr14	70634760	70634760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagtttcattccagaccCgaatagtggttgtgctggtt	11	8	1	2			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:70634760C>T	ENST00000381269.2	-	2	1133	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	SLC8A3_ENST00000356921.2_Missense_Mutation_p.R127Q|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R127Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R127Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R127Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	127					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATTCCAGACCCGAATAGTGGT	0.483													False	0	True	14:70634760	0	T	70634760	C	T	70634760	3	4	95	1	0	0	0	0	1	0	0	0	14788	652	23	1	2542	1	SLC8A3	14	70634760	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08		70634760	36714780	58	29518											
SERPINA3	12	broad.mit.edu	37	chr14	95080911	95080911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagaccgagggacacacGtggacctcggattagcctcc	11	14	0	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:95080911G>A	ENST00000467132.1	+	2	1281	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.V45M|SERPINA3_ENST00000393078.3_Missense_Mutation_p.V45M			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	45					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.V45M(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGGGACACACGTGGACCTCGG	0.572													False	0	True	14:95080911	0	A	95080911	G	A	95080911	3	1	95	1	0	0	0	0	1	0	0	0	14171	1145	40	1	135	1	SERPINA3	14	95080911	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	24446151	95080911	12268629	59	29519											
EPB42	2038	broad.mit.edu	37	chr15	43499591	43499591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggggtcagccccagcGtcccctccttgactgctctg	11	17	2	1	rs115972761	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:43499591G>A	ENST00000300215.3	-	9	1671	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	EPB42_ENST00000441366.2_Missense_Mutation_p.T375M|EPB42_ENST00000540029.1_Missense_Mutation_p.T297M			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	375					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CAGCCCCAGCGTCCCCTCCTT	0.582													False	0	False	15:43499591	0	A	43499591	G	A	43499591	3	1	95	1	0	0	0	0	1	0	0	0	5190	1145	40	1	971	1	EPB42	15	43499591	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08		43499591	59031801	60	29520											
CORO2B	10391	broad.mit.edu	37	chr15	68937512	68937512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagatgtcctggcgtcCgcaataccgtagctccaagt	9	14	1	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:68937512C>T	ENST00000543950.1	+	2	368	c.14C>T	c.(13-15)cCg>cTg	p.P5L	CORO2B_ENST00000540068.1_Missense_Mutation_p.P5L|CORO2B_ENST00000261861.5_Missense_Mutation_p.P5L|CORO2B_ENST00000566799.1_Missense_Mutation_p.P10L	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	10					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCTGGCGTCCGCAATACCGT	0.622													False	0	False	15:68937512	0	T	68937512	C	T	68937512	3	4	95	1	0	0	0	0	1	0	0	0	3780	652	23	1	35	1	CORO2B	15	68937512	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	25437921	68937512	33593880	61	29521											
CELF6	60677	broad.mit.edu	37	chr15	72579635	72579635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggttggcatccttgggccGctttagctggaccttgagcc	13	13	0	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:72579635G>A	ENST00000287202.5	-	12	1671	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000539635.1_Missense_Mutation_p.R334W|CELF6_ENST00000543764.2_Missense_Mutation_p.R336W|CELF6_ENST00000395258.2_Missense_Mutation_p.R360W|CELF6_ENST00000569547.1_Missense_Mutation_p.R473W|CELF6_ENST00000567083.1_Missense_Mutation_p.R446W	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	473	RRM 3.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						TCCTTGGGCCGCTTTAGCTGG	0.517													False	0	False	15:72579635	0	A	72579635	G	A	72579635	3	1	95	1	0	0	0	0	1	0	0	0	3243	1086	38	1	32	1	CELF6	15	72579635	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	3642123	72579635	29951757	62	29522											
TMC3	342125	broad.mit.edu	37	chr15	81654605	81654605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccagggaatgaagatgaccAcaaagttacaggcgagacga	12	9	0	4			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:81654605A>G	ENST00000558726.1	-	4	485	c.350T>C	c.(349-351)gTg>gCg	p.V117A	TMC3_ENST00000359440.5_Missense_Mutation_p.V117A			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	117						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAAGATGACCACAAAGTTACA	0.478													False	0	False	15:81654605	0	G	81654605	A	G	81654605	3	3	95	1	0	0	0	0	1	0	0	0	16068	159	6	4	3028	4	TMC3	15	81654605	Missense_Mutation	SNP	A	TCGA-IB-7890-01A-12D-2201-08	9074970	81654605	20876787	63	29523											
FURIN	5045	broad.mit.edu	37	chr15	91419516	91419516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctattaccacttctggcatcGaggagtgacgaagcggtccc	11	12	1	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:91419516G>A	ENST00000268171.3	+	3	488	c.209G>A	c.(208-210)cGa>cAa	p.R70Q		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	70					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TTCTGGCATCGAGGAGTGACG	0.657													False	0	False	15:91419516	0	A	91419516	G	A	91419516	3	1	95	1	0	0	0	0	1	0	0	0	6141	1058	37	1	215	1	FURIN	15	91419516	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	9764911	91419516	11111876	64	29524											
RGMA	56963	broad.mit.edu	37	chr15	93588562	93588562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggcggctgccagcctgCgggcaccggtgccctcagca	16	16	1	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:93588562C>T	ENST00000329082.7	-	4	1290	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	RGMA_ENST00000425933.2_Missense_Mutation_p.R324H|RGMA_ENST00000556658.1_Missense_Mutation_p.R231H|RGMA_ENST00000557301.1_Missense_Mutation_p.R348H|RGMA_ENST00000538818.1_Missense_Mutation_p.R231H|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000543599.1_Missense_Mutation_p.R324H|RGMA_ENST00000542321.2_Missense_Mutation_p.R324H	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	340					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGCCAGCCTGCGGGCACCGGT	0.672													False	0	True	15:93588562	0	T	93588562	C	T	93588562	3	4	95	1	0	0	0	0	1	0	0	0	13359	768	27	1	337	1	RGMA	15	93588562	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	2169046	93588562	8942830	65	29525											
AXIN1	8312	broad.mit.edu	37	chr16	347159	347159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccgaggcacctggcacctCggtgctggcgctcttccccg	12	18	1	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:347159C>T	ENST00000262320.3	-	7	2223	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	AXIN1_ENST00000354866.3_Missense_Mutation_p.E618K	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	618	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTGGCACCTCGGTGCTGGCG	0.612													False	0	False	16:347159	0	T	347159	C	T	347159	3	4	95	1	0	0	0	0	1	0	0	0	1240	893	31	1	756	1	AXIN1	16	347159	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08		347159	90007594	66	29526											
BFAR	51283	broad.mit.edu	37	chr16	14749057	14749057	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gaagcccccccagaatctctGggaatataaggtgaacactt	9	11	1	2			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:14749057G>C	ENST00000261658.2	+	5	1050	c.773G>C	c.(772-774)tGg>tCg	p.W258S	BFAR_ENST00000426842.2_Missense_Mutation_p.W130S|BFAR_ENST00000563971.1_Missense_Mutation_p.W133S	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	258					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CAGAATCTCTGGGAATATAAG	0.333													False	0	True	16:14749057	0	C	14749057	G	C	14749057	3	2	95	1	0	0	0	0	1	0	0	0	1419	1357	47	5	787	5	BFAR	16	14749057	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	14401898	14749057	75605696	67	29527											
KATNB1	10300	broad.mit.edu	37	chr16	57790798	57790798	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtcaagagcaagtcaggcctGagcggccgccatggcagtac	14	12	2	2			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:57790798G>A	ENST00000379661.3	+	20	2300	c.1908G>A	c.(1906-1908)ctG>ctA	p.L636L		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	636	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AGTCAGGCCTGAGCGGCCGCC	0.642													False	0	False	16:57790798	0	A	57790798	G	A	57790798	2	1	95	1	0	0	0	0	0	0	0	1	8037	1277	45	2		2	KATNB1	16	57790798	Silent	SNP	G	TCGA-IB-7890-01A-12D-2201-08	43041741	57790798	32563955	68	29528											
ZFHX3	463	broad.mit.edu	37	chr16	72830417	72830417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggacgccggctgaggcGgcgctgccggaagtgggggt	22	9	0	1	rs144401383		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:72830417G>A	ENST00000268489.5	-	9	6836	c.6164C>T	c.(6163-6165)cCg>cTg	p.P2055L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1141L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2055					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGCTGAGGCGGCGCTGCCGG	0.662													False	0	False	16:72830417	0	A	72830417	G	A	72830417	3	1	95	1	0	0	0	0	1	0	0	0	17717	1116	39	1	4955	1	ZFHX3	16	72830417	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	15039619	72830417	17524336	69	29529											
DLG4	1742	broad.mit.edu	37	chr17	7106623	7106623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggatgtgctggttccctacGccccctgcgatgctgaagcc	13	14	0	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:7106623G>A	ENST00000399510.2	-	9	1512	c.660C>T	c.(658-660)ggC>ggT	p.G220G	DLG4_ENST00000399506.2_Silent_p.G177G|DLG4_ENST00000485100.1_Silent_p.G174G|DLG4_ENST00000302955.6_Silent_p.G174G	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	177	PDZ 2.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GGTTCCCTACGCCCCCTGCGA	0.587													False	0	True	17:7106623	0	A	7106623	G	A	7106623	2	1	95	1	0	0	0	0	0	0	0	1	4587	1074	38	1		1	DLG4	17	7106623	Silent	SNP	G	TCGA-IB-7890-01A-12D-2201-08		7106623	74088587	70	29530											
TP53	7157	broad.mit.edu	37	chr17	7578254	7578254	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atactccacacgcaaatttcCttccactcggataagatgct	5	13	0	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:7578254C>A	ENST00000420246.2	-	6	727	c.595G>T	c.(595-597)Gga>Tga	p.G199*	TP53_ENST00000445888.2_Nonsense_Mutation_p.G199*|TP53_ENST00000269305.4_Nonsense_Mutation_p.G199*|TP53_ENST00000455263.2_Nonsense_Mutation_p.G199*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.G199*|TP53_ENST00000413465.2_Nonsense_Mutation_p.G199*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	199	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G199R(9)|p.0?(8)|p.?(5)|p.G199*(3)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198_G199ins21(1)|p.E198fs*7(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCAAATTTCCTTCCACTCGG	0.547		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)			False	0	True	17:7578254	0	A	7578254	C	A	7578254	4	1	95	1	0	0	0	0	0	1	0	0	16464	690	24	3	699	3	TP53	17	7578254	Nonsense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	471631	7578254	73616956	71	29531											
UBB	7314	broad.mit.edu	37	chr17	16285491	16285491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccggcaagaccatcacCctggaagtggagcccagtga	12	13	1	3	rs16962973		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:16285491C>T	ENST00000302182.3	+	2	662	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000395837.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552													False	0	True	17:16285491	0	T	16285491	C	T	16285491	2	4	95	1	0	0	0	0	0	0	0	1	16925	610	22	2		2	UBB	17	16285491	Silent	SNP	C	TCGA-IB-7890-01A-12D-2201-08	8707237	16285491	64909719	72	29532											
SLC6A4	6532	broad.mit.edu	37	chr17	28537580	28537580	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaggtgatgaccacggCgagcacgaaccgctcccggc	14	14	0	2			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:28537580C>A	ENST00000401766.2	-	10	1914	c.1402G>T	c.(1402-1404)Gcc>Tcc	p.A468S	SLC6A4_ENST00000261707.3_Missense_Mutation_p.A468S			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	468					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATGACCACGGCGAGCACGAAC	0.597													False	0	False	17:28537580	0	A	28537580	C	A	28537580	3	1	95	1	0	0	0	0	1	0	0	0	14766	768	27	3	510	3	SLC6A4	17	28537580	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	12252089	28537580	52657630	73	29533											
ATAD5	79915	broad.mit.edu	37	chr17	29167753	29167753	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatacccttaaggcgctcctCtagacatcagacacttcctg	7	14	2	2			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:29167753C>G	ENST00000321990.4	+	4	2573	c.2195C>G	c.(2194-2196)tCt>tGt	p.S732C	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	732					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGCGCTCCTCTAGACATCAG	0.348													False	0	False	17:29167753	0	G	29167753	C	G	29167753	3	3	95	1	0	0	0	0	1	0	0	0	1080	913	32	5	2209	5	ATAD5	17	29167753	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	630173	29167753	52027457	74	29534											
NMT1	4836	broad.mit.edu	37	chr17	43174523	43174523	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggccacccggctggctcccCcagtggcactgtggggttcg	15	16	0	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:43174523C>A	ENST00000592782.1	+	7	755	c.624C>A	c.(622-624)ccC>ccA	p.P208P	NMT1_ENST00000590114.1_Intron|NMT1_ENST00000258960.2_Silent_p.P208P			P30419	NMT1_HUMAN	N-myristoyltransferase 1	208					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GCTGGCTCCCCCAGTGGCACT	0.597											OREG0024469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	17:43174523	0	A	43174523	C	A	43174523	2	1	95	1	0	0	0	0	0	0	0	1	10571	610	22	3		3	NMT1	17	43174523	Silent	SNP	C	TCGA-IB-7890-01A-12D-2201-08	14006770	43174523	38020687	75	29535											
HEXIM1	10614	broad.mit.edu	37	chr17	43226570	43226570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tactagccatggccgagccaTtcttgtcagaatatcaacac	7	12	3	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:43226570T>C	ENST00000332499.2	+	1	1887	c.13T>C	c.(13-15)Ttc>Ctc	p.F5L		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	5					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCCGAGCCATTCTTGTCAGA	0.458											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:43226570	0	C	43226570	T	C	43226570	3	2	95	1	0	0	0	0	1	0	0	0	7123	1493	52	4	15	4	HEXIM1	17	43226570	Missense_Mutation	SNP	T	TCGA-IB-7890-01A-12D-2201-08	52047	43226570	37968640	76	29536											
XYLT2	64132	broad.mit.edu	37	chr17	48435627	48435627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactttggggggttactgggGccgctggacgagcctgtggc	18	9	0	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:48435627G>A	ENST00000017003.2	+	10	2050	c.2001G>A	c.(1999-2001)ggG>ggA	p.G667G	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	667					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGTTACTGGGGCCGCTGGACG	0.627													False	0	True	17:48435627	0	A	48435627	G	A	48435627	2	1	95	1	0	0	0	0	0	0	0	1	17548	1190	42	2		2	XYLT2	17	48435627	Silent	SNP	G	TCGA-IB-7890-01A-12D-2201-08	5209057	48435627	32759583	77	29537											
EPB41L3	23136	broad.mit.edu	37	chr18	5415859	5415859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcattgtctagggaggcGctcaaggaggccgccttggg	18	9	3	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr18:5415859G>A	ENST00000341928.2	-	13	2365	c.2025C>T	c.(2023-2025)agC>agT	p.S675S	EPB41L3_ENST00000342933.3_Silent_p.S675S|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	675	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTAGGGAGGCGCTCAAGGAGG	0.577													False	0	False	18:5415859	0	A	5415859	G	A	5415859	2	1	95	1	0	0	0	0	0	0	0	1	5186	1078	38	1		1	EPB41L3	18	5415859	Silent	SNP	G	TCGA-IB-7890-01A-12D-2201-08		5415859	72661389	78	29538											
GZMM	3004	broad.mit.edu	37	chr19	547332	547332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggaggtgatcccccactcGcgcccgtacatggcctcact	11	17	1	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:547332G>A	ENST00000264553.3	+	2	146	c.108G>A	c.(106-108)tcG>tcA	p.S36S		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	36	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCCACTCGCGCCCGTACA	0.667													False	0	False	19:547332	0	A	547332	G	A	547332	2	1	95	1	0	0	0	0	0	0	0	1	6966	1074	38	1		1	GZMM	19	547332	Silent	SNP	G	TCGA-IB-7890-01A-12D-2201-08		547332	58581651	79	29539											
STAP2	55620	broad.mit.edu	37	chr19	4328730	4328730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccgtccccgctgggccGcagcagcaggttcccgcact	14	18	0	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:4328730G>A	ENST00000600324.1	-	6	599	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	STAP2_ENST00000594605.1_Missense_Mutation_p.R178W	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	178	SH2.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCTGGGCCGCAGCAGCAGG	0.711													False	0	True	19:4328730	0	A	4328730	G	A	4328730	3	1	95	1	0	0	0	0	1	0	0	0	15335	1086	38	1	849	1	STAP2	19	4328730	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	3781398	4328730	54800253	80	29540											
PTPRS	5802	broad.mit.edu	37	chr19	5210704	5210704	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcacccggcccatctcccGcagcttggtcagcatcacca	8	19	4	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:5210704G>T	ENST00000372412.4	-	34	5583	c.5350C>A	c.(5350-5352)Cgg>Agg	p.R1784R	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.R1763R|PTPRS_ENST00000348075.2_Silent_p.R1745R|PTPRS_ENST00000357368.4_Silent_p.R1783R|PTPRS_ENST00000353284.2_Silent_p.R1336R|PTPRS_ENST00000588012.1_Silent_p.R1745R|PTPRS_ENST00000587303.1_Silent_p.R1783R|PTPRS_ENST00000592099.1_Silent_p.R1336R			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1783	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCCATCTCCCGCAGCTTGGTC	0.647													False	0	True	19:5210704	0	T	5210704	G	T	5210704	2	4	95	1	0	0	0	0	0	0	0	1	12890	1086	38	3		3	PTPRS	19	5210704	Silent	SNP	G	TCGA-IB-7890-01A-12D-2201-08	881974	5210704	53918279	81	29541											
MUC16	94025	broad.mit.edu	37	chr19	9070332	9070332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcatggcttctgtgtgcGcagtgtctttgtaagtggtc	13	8	2	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:9070332G>A	ENST00000397910.4	-	3	17317	c.17114C>T	c.(17113-17115)gCg>gTg	p.A5705V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5707	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGTGTGCGCAGTGTCTTT	0.502													False	0	False	19:9070332	0	A	9070332	G	A	9070332	3	1	95	1	0	0	0	0	1	0	0	0	10040	1087	38	1	26737	1	MUC16	19	9070332	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	3859628	9070332	50058651	82	29542											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													False	0	True	19:9090831	0	G	9090831	A	G	9090831	2	3	95	1	0	0	0	0	0	0	0	1	10040	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-IB-7890-01A-12D-2201-08	20499	9090831	50038152	83	29543											
ATP4A	495	broad.mit.edu	37	chr19	36053403	36053403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatgaggcagatggcggcGgcaacccacatgaggcactg	16	11	0	3			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:36053403G>A	ENST00000262623.3	-	4	382	c.354C>T	c.(352-354)gcC>gcT	p.A118A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	118					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AGATGGCGGCGGCAACCCACA	0.657													False	0	True	19:36053403	0	A	36053403	G	A	36053403	2	1	95	1	0	0	0	0	0	0	0	1	1149	1103	39	1		1	ATP4A	19	36053403	Silent	SNP	G	TCGA-IB-7890-01A-12D-2201-08	26962572	36053403	23075580	84	29544											
PEG3	5178	broad.mit.edu	37	chr19	57328017	57328017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgctcacgttcacgttcaCgttcatgttcacgctcatta	7	14	6	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:57328017C>T	ENST00000326441.9	-	10	2156	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|PEG3_ENST00000598410.1_Missense_Mutation_p.R474H|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R472H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	598					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R598H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ttcacgttcacgttcatgttc	0.458													False	0	True	19:57328017	0	T	57328017	C	T	57328017	3	4	95	1	0	0	0	0	1	0	0	0	11788	536	19	1	2977	1	PEG3	19	57328017	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	21274614	57328017	1800966	85	29545											
ZNF544	27300	broad.mit.edu	37	chr19	58757707	58757709	+	In_Frame_Del	DEL	AGG	AGG	-													tgtggctatggcattcacacAggaggagtgggaacagctgg							TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:58757707_58757709delAGG	ENST00000599227.1	+	5	658_660	c.74_76delAGG	c.(73-78)caggag>cag	p.E27del	ZNF544_ENST00000600044.1_In_Frame_Del_p.E27del|CTD-3138B18.4_ENST00000600029.1_In_Frame_Del_p.E27del|ZNF544_ENST00000600220.1_In_Frame_Del_p.E27del|ZNF544_ENST00000594384.1_In_Frame_Del_p.E27del|ZNF544_ENST00000596652.1_In_Frame_Del_p.E27del|ZNF544_ENST00000333581.5_In_Frame_Del_p.E27del|ZNF544_ENST00000596825.1_In_Frame_Del_p.E27del|ZNF544_ENST00000269829.4_In_Frame_Del_p.E27del|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000415203.2_In_Frame_Del_p.E27del|ZNF544_ENST00000595981.1_In_Frame_Del_p.E27del|ZNF544_ENST00000596929.1_In_Frame_Del_p.E27del|ZNF544_ENST00000599953.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GCATTCACACAGGAGGAGTGGGA	0.571													False	2	True	19:58757707	0	-	58757709	AGG	-	58757707	7	5	95	1	0	1	0	1	0	0	0	0	18060	188	7	0	80	0	ZNF544	19	58757707	In_Frame_Del	DEL	AGG	TCGA-IB-7890-01A-12D-2201-08	1429690	58757707	371276	86	29546											
MC3R	4159	broad.mit.edu	37	chr20	54824818	54824818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccggagcctggaattgCgcaacacctttagggagatt	11	10	0	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:54824818C>T	ENST00000243911.2	+	1	1031	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.R344C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGAATTGCGCAACACCTT	0.517													False	0	False	20:54824818	0	T	54824818	C	T	54824818	3	4	95	1	0	0	0	0	1	0	0	0	9432	768	27	1	921	1	MC3R	20	54824818	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08		54824818	8200702	87	29547											
ZNF831	128611	broad.mit.edu	37	chr20	57769548	57769548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcccactcagggacGtcccggagccacagcacccg	10	17	2	0			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:57769548G>A	ENST00000371030.2	+	1	3474	c.3474G>A	c.(3472-3474)acG>acA	p.T1158T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1158						intracellular	nucleic acid binding|zinc ion binding	p.T1158T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCAGGGACGTCCCGGAGCC	0.672													False	0	False	20:57769548	0	A	57769548	G	A	57769548	2	1	95	1	0	0	0	0	0	0	0	1	18267	1132	40	1		1	ZNF831	20	57769548	Silent	SNP	G	TCGA-IB-7890-01A-12D-2201-08	2944730	57769548	5255972	88	29548											
TCN2	6948	broad.mit.edu	37	chr22	31011344	31011344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcgctcaaacttcaacCctggtcggagacaacggatc	10	12	2	2			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr22:31011344C>T	ENST00000215838.3	+	5	1131	c.637C>T	c.(637-639)Cct>Tct	p.P213S	TCN2_ENST00000407817.3_Missense_Mutation_p.P186S|TCN2_ENST00000405742.3_Missense_Mutation_p.P209S			P20062	TCO2_HUMAN	transcobalamin II	213					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACTTCAACCCTGGTCGGAG	0.557													False	0	True	22:31011344	0	T	31011344	C	T	31011344	3	4	95	1	0	0	0	0	1	0	0	0	15789	623	22	2	655	2	TCN2	22	31011344	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08		31011344	20293222	89	29549											
GAGE12J	729396	broad.mit.edu	37	chrX	49179717	49179718	+	In_Frame_Ins	INS	-	-	GAT													attattggcctagaccaagaINSccctatgtacagcctcctga					rs79608938		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:49179717_49179718insGAT	ENST00000442437.2	+	2	141_142	c.45_46insGAT	c.(46-48)ccc>GATccc	p.15_16insD		NM_001098406.1	NP_001091876.1			G antigen 12J									p.R15R(1)		kidney(2)|large_intestine(2)|lung(1)|prostate(1)	6	Ovarian(276;0.236)					CTAGACCAAGACCCTATGTACA	0.446													False	0	True	X:49179717	0	GAT	49179718	-	GAT	49179717	7	5	95	1	0	1	1	0	0	0	0	0	6230	272	10	0	47	0	GAGE12J	23	49179717	In_Frame_Ins	INS	-	TCGA-IB-7890-01A-12D-2201-08		49179717	106090843	90	29550											
GUCY2F	2986	broad.mit.edu	37	chrX	108636151	108636151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgttagaagcttttccGttttctgtttttcaatttcc	6	8	3	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:108636151G>A	ENST00000218006.2	-	13	2849	c.2558C>T	c.(2557-2559)aCg>aTg	p.T853M		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	853					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAGCTTTTCCGTTTTCTGTTT	0.383													False	0	True	X:108636151	0	A	108636151	G	A	108636151	3	1	95	1	0	0	0	0	1	0	0	0	6945	1145	40	1	796	1	GUCY2F	23	108636151	Missense_Mutation	SNP	G	TCGA-IB-7890-01A-12D-2201-08	59456434	108636151	46634409	91	29551											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	18	6	0	1			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:112058796C>T	ENST00000371959.3	-	2	1181	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582													False	0	True	X:112058796	0	T	112058796	C	T	112058796	2	4	95	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-IB-7890-01A-12D-2201-08	3422645	112058796	43211764	92	29552											
MAGEA3	4102	broad.mit.edu	37	chrX	151935450	151935450	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcagcttcttgggatccccCaagatactgtcttccctccc	7	16	2	1	rs34645170		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:151935450C>G	ENST00000393902.3	-	3	1284	c.717G>C	c.(715-717)ttG>ttC	p.L239F	MAGEA3_ENST00000370278.3_Missense_Mutation_p.L239F			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	239	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGATCCCCCAAGATACTGT	0.537													False	0	True	X:151935450	0	G	151935450	C	G	151935450	3	3	95	1	0	0	0	0	1	0	0	0	9232	593	21	5	231	5	MAGEA3	23	151935450	Missense_Mutation	SNP	C	TCGA-IB-7890-01A-12D-2201-08	39876654	151935450	3335110	93	29553											
PADI3	51702	broad.mit.edu	37	chr1	17609365	17609365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatgctggtgctggggaagCacctgggcatccccaagccc	13	14	0	0	rs147308107		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:17609365C>A	ENST00000375460.3	+	16	1826	c.1786C>A	c.(1786-1788)Cac>Aac	p.H596N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	596					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCTGGGGAAGCACCTGGGCAT	0.627													False	0	False	1:17609365	0	A	17609365	C	A	17609365	3	1	96	1	0	0	0	0	1	0	0	0	11447	710	25	3	1848	3	PADI3	1	17609365	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08		17609365	231641256	1	29554											
PTPRU	10076	broad.mit.edu	37	chr1	29630460	29630460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggctccccataccacaCggggcagctgcaccctgcgg	13	16	0	0	rs146215972		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:29630460C>T	ENST00000356870.3	+	16	2680	c.2570C>T	c.(2569-2571)aCg>aTg	p.T857M	PTPRU_ENST00000428026.2_Missense_Mutation_p.T857M|PTPRU_ENST00000460170.2_Missense_Mutation_p.T857M|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.T857M|PTPRU_ENST00000373779.3_Missense_Mutation_p.T857M|PTPRU_ENST00000345512.3_Missense_Mutation_p.T867M	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	867	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCATACCACACGGGGCAGCTG	0.662													False	0	True	1:29630460	0	T	29630460	C	T	29630460	3	4	96	1	0	0	0	0	1	0	0	0	12892	536	19	1	2666	1	PTPRU	1	29630460	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08	12021095	29630460	219620161	2	29555			1	16		2	2	20	N	G_C	3.68249e-05
PTPRU	10076	broad.mit.edu	37	chr1	29630479	29630479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggcagctgcaccctgcGgtgcgtgtcgcagaccttct	14	14	1	1	rs145675393		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:29630479G>A	ENST00000356870.3	+	16	2699	c.2589G>A	c.(2587-2589)gcG>gcA	p.A863A	PTPRU_ENST00000428026.2_Silent_p.A863A|PTPRU_ENST00000460170.2_Silent_p.A863A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Silent_p.A863A|PTPRU_ENST00000373779.3_Silent_p.A863A|PTPRU_ENST00000345512.3_Silent_p.A873A	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	873	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCACCCTGCGGTGCGTGTCG	0.687													False	0	False	1:29630479	0	A	29630479	G	A	29630479	2	1	96	1	0	0	0	0	0	0	0	1	12892	1103	39	1		1	PTPRU	1	29630479	Silent	SNP	G	TCGA-IB-7891-01A-11D-2201-08	19	29630479	219620142	3	29556			1	16		2	2	20	N	G_C	3.68249e-05
ADORA3	140	broad.mit.edu	37	chr1	112043018	112043018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtagtccattctcatgaCggaaacaaattggcatgaaa	8	8	1	2	rs139935750	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:112043018C>T	ENST00000241356.4	-	2	916	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	171					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATTCTCATGACGGAAACAAAT	0.453													False	0	False	1:112043018	0	T	112043018	C	T	112043018	3	4	96	1	0	0	0	0	1	0	0	0	329	536	19	1	1163	1	ADORA3	1	112043018	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08	82412539	112043018	137207603	4	29557											
NTRK1	4914	broad.mit.edu	37	chr1	156849848	156849848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcccgagagcatcctgtacCgtaagttcaccaccgagagc	10	15	1	2			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:156849848C>T	ENST00000368196.3	+	15	2206	c.2086C>T	c.(2086-2088)Cgt>Tgt	p.R696C	NTRK1_ENST00000392302.2_Missense_Mutation_p.R666C|NTRK1_ENST00000524377.1_Missense_Mutation_p.R702C|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_Missense_Mutation_p.R699C	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	702	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CATCCTGTACCGTAAGTTCAC	0.637			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			False	0	False	1:156849848	0	T	156849848	C	T	156849848	3	4	96	1	0	0	0	0	1	0	0	0	10774	652	23	1	2296	1	NTRK1	1	156849848	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08	44806830	156849848	92400773	5	29558											
NUAK2	81788	broad.mit.edu	37	chr1	205273591	205273591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccacatcctccagggtggCccggcgggtggggttcacca	16	14	1	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:205273591C>T	ENST00000367157.3	-	7	1000	c.874G>A	c.(874-876)Gcc>Acc	p.A292T		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	292	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCCAGGGTGGCCCGGCGGGTG	0.637													False	0	True	1:205273591	0	T	205273591	C	T	205273591	3	4	96	1	0	0	0	0	1	0	0	0	10781	739	26	2	1016	2	NUAK2	1	205273591	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08	48423743	205273591	43977030	6	29559											
PTPN14	5784	broad.mit.edu	37	chr1	214556939	214556939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacactcttccttggaccGgggtactcaggcgggggctt	13	13	3	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:214556939G>A	ENST00000366956.5	-	13	2453	c.2259C>T	c.(2257-2259)ccC>ccT	p.P753P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	753					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCCTTGGACCGGGGTACTCAG	0.672													False	0	True	1:214556939	0	A	214556939	G	A	214556939	2	1	96	1	0	0	0	0	0	0	0	1	12860	1103	39	1		1	PTPN14	1	214556939	Silent	SNP	G	TCGA-IB-7891-01A-11D-2201-08	9283348	214556939	34693682	7	29560											
HOXD13	3239	broad.mit.edu	37	chr2	176959381	176959381	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgaacctatctgagagaCaagtgaccatttggtttcag	9	9	2	3			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:176959381C>T	ENST00000392539.3	+	2	955	c.955C>T	c.(955-957)Caa>Taa	p.Q319*		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	319					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		ATCTGAGAGACAAGTGACCAT	0.463			T	NUP98	AML*								False	0	True	2:176959381	0	T	176959381	C	T	176959381	4	4	96	1	0	0	0	0	0	1	0	0	7369	479	17	2	961	2	HOXD13	2	176959381	Nonsense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08		176959381	66239992	8	29561											
PRKRA	8575	broad.mit.edu	37	chr2	179300952	179300952	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtaatctgtatttggaataCtaaggaggcttcttttcagt	9	5	3	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:179300952C>A	ENST00000325748.4	-	7	904	c.704G>T	c.(703-705)aGt>aTt	p.S235I	AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000438687.3_Missense_Mutation_p.S122I|PRKRA_ENST00000432031.2_Missense_Mutation_p.S224I|PRKRA_ENST00000487082.1_Missense_Mutation_p.S210I	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	235	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ATTTGGAATACTAAGGAGGCT	0.338													False	0	False	2:179300952	0	A	179300952	C	A	179300952	3	1	96	1	0	0	0	0	1	0	0	0	12600	565	20	3	245	3	PRKRA	2	179300952	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08	2341571	179300952	63898421	9	29562											
CASP8	841	broad.mit.edu	37	chr2	202131315	202131315	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acattccgcaaaggaagcaaGaacccatcaaggatgccttg	9	11	1	1			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:202131315G>T	ENST00000358485.4	+	2	479	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	CASP8_ENST00000392259.2_Nonsense_Mutation_p.E36*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.E36*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.E36*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.E36*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.E36*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.E36*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.E36*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	36					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGGAAGCAAGAACCCATCAA	0.468										HNSCC(4;0.00038)			False	0	False	2:202131315	0	T	202131315	G	T	202131315	4	4	96	1	0	0	0	0	0	1	0	0	2697	943	33	3	289	3	CASP8	2	202131315	Nonsense_Mutation	SNP	G	TCGA-IB-7891-01A-11D-2201-08	22830363	202131315	41068058	10	29563											
CCR4	1233	broad.mit.edu	37	chr3	32995416	32995416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtcagtggctgtgttcGcctcccttcctggctttctg	11	13	2	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr3:32995416G>A	ENST00000330953.5	+	2	670	c.502G>A	c.(502-504)Gcc>Acc	p.A168T		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	168					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GGCTGTGTTCGCCTCCCTTCC	0.502													False	0	False	3:32995416	0	A	32995416	G	A	32995416	3	1	96	1	0	0	0	0	1	0	0	0	2966	1087	38	1	504	1	CCR4	3	32995416	Missense_Mutation	SNP	G	TCGA-IB-7891-01A-11D-2201-08		32995416	165027014	11	29564											
MYO10	4651	broad.mit.edu	37	chr5	16694499	16694499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgccgttcgcacttctaCggtgcccttgagcttctcct	8	15	2	1			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:16694499C>T	ENST00000513610.1	-	27	4235	c.3781G>A	c.(3781-3783)Gta>Ata	p.V1261I	MYO10_ENST00000274203.9_Missense_Mutation_p.V618I|MYO10_ENST00000505695.1_Missense_Mutation_p.V600I|MYO10_ENST00000515803.1_Missense_Mutation_p.V600I|MYO10_ENST00000427430.2_Missense_Mutation_p.V618I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1261	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGCACTTCTACGGTGCCCTTG	0.537													False	0	False	5:16694499	0	T	16694499	C	T	16694499	3	4	96	1	0	0	0	0	1	0	0	0	10129	536	19	1	2455	1	MYO10	5	16694499	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08		16694499	164220761	12	29565											
PCDHB1	0	broad.mit.edu	37	chr5	140431928	140431928	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaagcaattctcaagacGtttcagattgaccctcaaaa	6	11	3	4			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:140431928G>A	ENST00000306549.3	+	1	950	c.873G>A	c.(871-873)acG>acA	p.T291T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		291	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T291T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCAAGACGTTTCAGATTG	0.468													False	0	True	5:140431928	0	A	140431928	G	A	140431928	2	1	96	1	0	0	0	0	0	0	0	1	11602	1132	40	1		1	PCDHB1	5	140431928	Silent	SNP	G	TCGA-IB-7891-01A-11D-2201-08	123737429	140431928	40483332	13	29566											
PCDHGA7	0	broad.mit.edu	37	chr5	140764634	140764634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgctggcacaagtcacGcctgctgcaggcttcagaag	14	13	2	1			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:140764634G>A	ENST00000518325.1	+	1	2168	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAAGTCACGCCTGCTGCAG	0.627													False	0	False	5:140764634	0	A	140764634	G	A	140764634	3	1	96	1	0	0	0	0	1	0	0	0	11627	1087	38	1	2170	1	PCDHGA7	5	140764634	Missense_Mutation	SNP	G	TCGA-IB-7891-01A-11D-2201-08	332706	140764634	40150626	14	29567											
WWC1	23286	broad.mit.edu	37	chr5	167881063	167881063	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagaggatgttttcacCgagaaagcctcacctgatat	11	8	2	4			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:167881063C>T	ENST00000265293.4	+	18	3118	c.2616C>T	c.(2614-2616)acC>acT	p.T872T	WWC1_ENST00000521089.1_Silent_p.T872T|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	872	Glu-rich.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		aTGTTTTCACCGAGAAAGCCT	0.542													False	0	False	5:167881063	0	T	167881063	C	T	167881063	2	4	96	1	0	0	0	0	0	0	0	1	17495	639	23	1		1	WWC1	5	167881063	Silent	SNP	C	TCGA-IB-7891-01A-11D-2201-08	27116429	167881063	13034197	15	29568											
TRIM7	81786	broad.mit.edu	37	chr5	180622634	180622634	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cccttaagatccagagagagGatgaggcgcgggttggccgt	16	9	0	4			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:180622634G>T	ENST00000393315.1	-	7	1141	c.444C>A	c.(442-444)atC>atA	p.I148I	TRIM7_ENST00000361809.3_Silent_p.I148I|TRIM7_ENST00000422067.2_Silent_p.I148I|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393319.3_Silent_p.I174I|TRIM7_ENST00000274773.7_Silent_p.I356I	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	356						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CCAGAGAGAGGATGAGGCGCG	0.662													False	0	True	5:180622634	0	T	180622634	G	T	180622634	2	4	96	1	0	0	0	0	0	0	0	1	16626	1164	41	3		3	TRIM7	5	180622634	Silent	SNP	G	TCGA-IB-7891-01A-11D-2201-08	12741571	180622634	292626	16	29569											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	96	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-7891-01A-11D-2201-08		7393450	163721617	17	29570											
DSP	1832	broad.mit.edu	37	chr6	7576570	7576570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaagcaattgaggaattatCgtgataactatcaggctttc	8	7	2	2			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:7576570C>T	ENST00000379802.3	+	19	3015	c.2674C>T	c.(2674-2676)Cgt>Tgt	p.R892C	DSP_ENST00000418664.2_Missense_Mutation_p.R892C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	892	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGGAATTATCGTGATAACTA	0.388													False	0	False	6:7576570	0	T	7576570	C	T	7576570	3	4	96	1	0	0	0	0	1	0	0	0	4811	884	31	1	2748	1	DSP	6	7576570	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08	183120	7576570	163538497	18	29571											
LRFN2	57497	broad.mit.edu	37	chr6	40399611	40399611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttttgggaggctctccGcccccactgcctccacctcc	10	19	1	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:40399611G>A	ENST00000338305.6	-	2	1784	c.1242C>T	c.(1240-1242)ggC>ggT	p.G414G		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	414						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGGCTCTCCGCCCCCACTGC	0.652													False	0	True	6:40399611	0	A	40399611	G	A	40399611	2	1	96	1	0	0	0	0	0	0	0	1	9000	1074	38	1		1	LRFN2	6	40399611	Silent	SNP	G	TCGA-IB-7891-01A-11D-2201-08	32823041	40399611	130715456	19	29572											
SYNE1	23345	broad.mit.edu	37	chr6	152763321	152763321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccccttctccctgctgCgcctgcgcgatctgctgctg	10	19	2	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:152763321C>T	ENST00000367255.5	-	31	4498	c.3897G>A	c.(3895-3897)gcG>gcA	p.A1299A	SYNE1_ENST00000265368.4_Silent_p.A1299A|SYNE1_ENST00000341594.5_Silent_p.A1365A|SYNE1_ENST00000367253.4_Silent_p.A1299A|SYNE1_ENST00000413186.2_Silent_p.A1299A|SYNE1_ENST00000367248.3_Silent_p.A1289A|SYNE1_ENST00000423061.1_Silent_p.A1306A|SYNE1_ENST00000448038.1_Silent_p.A1306A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1299					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.A1299A(2)|p.A1306A(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCCTGCTGCGCCTGCGCGA	0.567										HNSCC(10;0.0054)			False	0	True	6:152763321	0	T	152763321	C	T	152763321	2	4	96	1	0	0	0	0	0	0	0	1	15527	755	27	1		1	SYNE1	6	152763321	Silent	SNP	C	TCGA-IB-7891-01A-11D-2201-08	112363710	152763321	18351746	20	29573											
SDK1	221935	broad.mit.edu	37	chr7	4185418	4185418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccaccgtggaggtcggCgccacagtgaggcagttcac	13	13	2	1			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:4185418C>T	ENST00000404826.2	+	29	4432	c.4293C>T	c.(4291-4293)ggC>ggT	p.G1431G	SDK1_ENST00000389531.3_Silent_p.G1431G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1431	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGAGGTCGGCGCCACAGTGA	0.667													False	0	False	7:4185418	0	T	4185418	C	T	4185418	2	4	96	1	0	0	0	0	0	0	0	1	14049	755	27	1		1	SDK1	7	4185418	Silent	SNP	C	TCGA-IB-7891-01A-11D-2201-08		4185418	154953245	21	29574											
DNAH11	8701	broad.mit.edu	37	chr7	21659575	21659575	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttatattgttgattactaggTtattactgaaatcagtcaga	7	4	2	3			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:21659575T>A	ENST00000328843.6	+	25	4425	c.4394T>A	c.(4393-4395)gTt>gAt	p.V1465D	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Splice_Site_p.V1460D			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1465	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATTACTAGGTTATTACTGAA	0.294									Kartagener syndrome				False	0	False	7:21659575	0	A	21659575	T	A	21659575	5	1	96	1	0	0	0	0	0	0	1	0	4629	1739	60	5	4492	5	DNAH11	7	21659575	Splice_Site	SNP	T	TCGA-IB-7891-01A-11D-2201-08	17474157	21659575	137479088	22	29575											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	96	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-IB-7891-01A-11D-2201-08	22494203	44153778	114984885	23	29576											
RGS22	26166	broad.mit.edu	37	chr8	100990176	100990177	+	Frame_Shift_Ins	INS	-	-	G													ttcgtcttctaggactgccaINSatttttttttctgcttatta					rs7841915	by1000genomes	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr8:100990176_100990177insG	ENST00000523287.1	-	21	3533_3534	c.2944_2945insC	c.(2944-2946)ttgfs	p.L982fs	RGS22_ENST00000523437.1_Frame_Shift_Ins_p.L1151fs|RGS22_ENST00000360863.6_Frame_Shift_Ins_p.L1163fs			Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1163					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TAGGACTGCCAATTTTTTTTTC	0.312													False	0	True	8:100990176	0	G	100990177	-	G	100990176	7	5	96	1	0	1	1	0	0	0	0	0	13384	131	5	0	326	0	RGS22	8	100990176	Frame_Shift_Ins	INS	-	TCGA-IB-7891-01A-11D-2201-08		100990176	45373846	24	29577											
PRUNE2	158471	broad.mit.edu	37	chr9	79319818	79319818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtcttcacgaatatgcaGcacagccagctgggatccag	12	11	2	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:79319818G>A	ENST00000428286.1	-	8	7495	c.6295C>T	c.(6295-6297)Ctg>Ttg	p.L2099L	PRUNE2_ENST00000376718.3_Silent_p.L2458L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2458					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGAATATGCAGCACAGCCAGC	0.493											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:79319818	0	A	79319818	G	A	79319818	2	1	96	1	0	0	0	0	0	0	0	1	12717	962	34	2		2	PRUNE2	9	79319818	Silent	SNP	G	TCGA-IB-7891-01A-11D-2201-08		79319818	61893613	25	29578											
TNC	3371	broad.mit.edu	37	chr9	117849313	117849313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaacagatgcagactccatTtacgcacttgccctggtcat	8	12	1	2			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:117849313T>C	ENST00000350763.4	-	3	1108	c.697A>G	c.(697-699)Aat>Gat	p.N233D	TNC_ENST00000423613.2_Missense_Mutation_p.N233D|TNC_ENST00000542877.1_Missense_Mutation_p.N233D|TNC_ENST00000345230.3_Missense_Mutation_p.N233D|TNC_ENST00000537320.1_Missense_Mutation_p.N233D|TNC_ENST00000346706.3_Missense_Mutation_p.N233D|TNC_ENST00000341037.4_Missense_Mutation_p.N233D|TNC_ENST00000340094.3_Missense_Mutation_p.N233D|TNC_ENST00000535648.1_Missense_Mutation_p.N233D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	233	EGF-like 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGACTCCATTTACGCACTTG	0.602													False	0	True	9:117849313	0	C	117849313	T	C	117849313	3	2	96	1	0	0	0	0	1	0	0	0	16352	1841	64	4	6012	4	TNC	9	117849313	Missense_Mutation	SNP	T	TCGA-IB-7891-01A-11D-2201-08	38529495	117849313	23364118	26	29579											
CEL	1056	broad.mit.edu	37	chr9	135946986	135946986	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccacgggtgactccggGgccccccccgtgacccccac	11	23	0	2			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:135946986G>C	ENST00000372080.4	+	11	2122	c.2106G>C	c.(2104-2106)ggG>ggC	p.G702G	CEL_ENST00000351304.7_Silent_p.G633G	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	699	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GTGACTCCGGGGCCCCCCCCG	0.826													False	0	True	9:135946986	0	C	135946986	G	C	135946986	2	2	96	1	0	0	0	0	0	0	0	1	3232	1219	43	5		5	CEL	9	135946986	Silent	SNP	G	TCGA-IB-7891-01A-11D-2201-08	18097673	135946986	5266445	27	29580											
GAD2	2572	broad.mit.edu	37	chr10	26508064	26508064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtatgtggtgaaaagtttcGatagatcaaccaaagtgatt	10	4	1	3			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr10:26508064G>A	ENST00000376261.3	+	4	882	c.379G>A	c.(379-381)Gat>Aat	p.D127N	GAD2_ENST00000376248.1_Missense_Mutation_p.D13N|GAD2_ENST00000259271.3_Missense_Mutation_p.D127N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	127					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GAAAAGTTTCGATAGATCAAC	0.393													False	0	False	10:26508064	0	A	26508064	G	A	26508064	3	1	96	1	0	0	0	0	1	0	0	0	6222	1058	37	1	393	1	GAD2	10	26508064	Missense_Mutation	SNP	G	TCGA-IB-7891-01A-11D-2201-08		26508064	109026683	28	29581											
MUC6	4588	broad.mit.edu	37	chr11	1016989	1016991	+	In_Frame_Del	DEL	TGT	TGT	-													actggtgtgtttgggggtgaTgttggtggtagaagttgggg					rs74788171		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:1016989_1016991delTGT	ENST00000421673.2	-	31	5860_5862	c.5810_5812delACA	c.(5809-5814)aacatc>atc	p.N1937del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1937	Approximate repeats.|Thr-rich.			NITPKHTSTGTRTPV -> KITTNPTSIGSSTPM (in Ref. 5; AAA35866).	maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGGGGGTGATGTTGGTGGTAGA	0.562													False	1	False	11:1016989	0	-	1016991	TGT	-	1016989	7	5	96	1	0	1	0	1	0	0	0	0	10047	1464	51	0	1519	0	MUC6	11	1016989	In_Frame_Del	DEL	TGT	TCGA-IB-7891-01A-11D-2201-08		1016989	133989527	29	29582											
MICAL2	9645	broad.mit.edu	37	chr11	12278458	12278458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccaccgggagtgtttcCgctgcagcatctgtgccacc	10	15	2	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:12278458C>T	ENST00000256194.4	+	24	3370	c.3082C>T	c.(3082-3084)Cgc>Tgc	p.R1028C	MICAL2_ENST00000342902.5_Missense_Mutation_p.R1007C|MICAL2_ENST00000537344.1_Missense_Mutation_p.R838C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R802C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R838C	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1028	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GGAGTGTTTCCGCTGCAGCAT	0.607													False	0	False	11:12278458	0	T	12278458	C	T	12278458	3	4	96	1	0	0	0	0	1	0	0	0	9637	652	23	1	3168	1	MICAL2	11	12278458	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08	11261469	12278458	122728058	30	29583											
GDPD5	81544	broad.mit.edu	37	chr11	75152278	75152278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgacggatgggacccccGcacaccacagcagggagaag	15	12	0	2			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:75152278G>A	ENST00000526177.1	-	10	2867	c.989C>T	c.(988-990)gCg>gTg	p.A330V	GDPD5_ENST00000376282.3_Missense_Mutation_p.A349V|GDPD5_ENST00000336898.3_Missense_Mutation_p.A468V|GDPD5_ENST00000529721.1_Missense_Mutation_p.A468V|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Missense_Mutation_p.A349V|GDPD5_ENST00000533805.1_Missense_Mutation_p.A223V			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	468	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	p.A468V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TGGGACCCCCGCACACCACAG	0.657													False	0	True	11:75152278	0	A	75152278	G	A	75152278	3	1	96	1	0	0	0	0	1	0	0	0	6372	1087	38	1	430	1	GDPD5	11	75152278	Missense_Mutation	SNP	G	TCGA-IB-7891-01A-11D-2201-08	62873820	75152278	59854238	31	29584											
DSCAML1	57453	broad.mit.edu	37	chr11	117387200	117387200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctttgacggctacgtgaaCgctctggctgatggagagct	13	10	1	4			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:117387200C>T	ENST00000321322.6	-	8	1946	c.1945G>A	c.(1945-1947)Gtt>Att	p.V649I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V379I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	589	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTACGTGAACGCTCTGGCTG	0.632													False	0	False	11:117387200	0	T	117387200	C	T	117387200	3	4	96	1	0	0	0	0	1	0	0	0	4799	536	19	1	4500	1	DSCAML1	11	117387200	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08	42234922	117387200	17619316	32	29585											
GRIN2B	2904	broad.mit.edu	37	chr12	13717016	13717016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggagcggatcaagtcgtcGtggccactgtagcggtcgct	15	11	1	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:13717016G>A	ENST00000609686.1	-	13	3365	c.3156C>T	c.(3154-3156)caC>caT	p.H1052H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAAGTCGTCGTGGCCACTGT	0.572													False	0	False	12:13717016	0	A	13717016	G	A	13717016	2	1	96	1	0	0	0	0	0	0	0	1	6827	1136	40	1		1	GRIN2B	12	13717016	Silent	SNP	G	TCGA-IB-7891-01A-11D-2201-08		13717016	120134879	33	29586											
USP15	9958	broad.mit.edu	37	chr12	62715327	62715327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaacaaatacatgagtaaCacatttgaaccactgaataa	6	7	0	3			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:62715327C>T	ENST00000280377.5	+	5	616	c.558C>T	c.(556-558)aaC>aaT	p.N186N	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Silent_p.N186N|USP15_ENST00000353364.3_Silent_p.N186N|USP15_ENST00000393654.3_Silent_p.N186N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	186					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACATGAGTAACACATTTGAAC	0.333													False	0	False	12:62715327	0	T	62715327	C	T	62715327	2	4	96	1	0	0	0	0	0	0	0	1	17130	477	17	2		2	USP15	12	62715327	Silent	SNP	C	TCGA-IB-7891-01A-11D-2201-08	48998311	62715327	71136568	34	29587											
HEATR5A	25938	broad.mit.edu	37	chr14	31785103	31785103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caagcaactgatgaactcttCggagatcattaaggtcactt	8	9	3	3			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr14:31785103C>T	ENST00000543095.2	-	27	4275	c.4091G>A	c.(4090-4092)cGa>cAa	p.R1364Q	HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1358Q|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R1071Q|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R1358Q	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1358							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATGAACTCTTCGGAGATCATT	0.343													False	0	False	14:31785103	0	T	31785103	C	T	31785103	3	4	96	1	0	0	0	0	1	0	0	0	7078	884	31	1	2089	1	HEATR5A	14	31785103	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08		31785103	75564437	35	29588											
THSD4	79875	broad.mit.edu	37	chr15	72063463	72063468	+	In_Frame_Del	DEL	ATGACT	ATGACT	-													tgcggtgtctgtctgatgacAtgactctaagtaacctctgt							TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	ATGACT	ATGACT	-	-	ATGACT	ATGACT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr15:72063463_72063468delATGACT	ENST00000355327.3	+	17	2964_2969	c.2830_2835delATGACT	c.(2830-2835)atgactdel	p.MT944del	THSD4_ENST00000357769.4_In_Frame_Del_p.MT584del|THSD4_ENST00000261862.6_In_Frame_Del_p.MT944del			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	944	TSP type-1 6.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTCTGATGACATGACTCTAAGTAACC	0.481													False	1	True	15:72063463	0	-	72063468	ATGACT	-	72063463	7	5	96	1	0	1	0	1	0	0	0	0	15960	217	8	0	2892	0	THSD4	15	72063463	In_Frame_Del	DEL	ATGACT	TCGA-IB-7891-01A-11D-2201-08		72063463	30467929	36	29589											
LRRK1	79705	broad.mit.edu	37	chr15	101593294	101593294	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgctaacgtaccggcagGtaagcgggtcccaggttggt	14	10	0	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr15:101593294G>T	ENST00000284395.5	+	26	4247		c.e26+1		LRRK1_ENST00000388948.3_Splice_Site|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1						small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTACCGGCAGGTAAGCGGGTC	0.582													False	0	False	15:101593294	0	T	101593294	G	T	101593294	5	4	96	1	0	0	0	0	0	0	1	0	9094	1275	44	3	3951	3	LRRK1	15	101593294	Splice_Site	SNP	G	TCGA-IB-7891-01A-11D-2201-08	29529831	101593294	938098	37	29590											
XYLT1	64131	broad.mit.edu	37	chr16	17211716	17211716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgggatccacccaaatgaCggtcacggtcacattaggtc	11	12	2	1			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:17211716C>T	ENST00000261381.6	-	11	2428	c.2344G>A	c.(2344-2346)Gtc>Atc	p.V782I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	782					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCCAAATGACGGTCACGGTC	0.557													False	0	True	16:17211716	0	T	17211716	C	T	17211716	3	4	96	1	0	0	0	0	1	0	0	0	17547	536	19	1	543	1	XYLT1	16	17211716	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08		17211716	73143037	38	29591											
SPACA3	124912	broad.mit.edu	37	chr17	31322436	31322436	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccctttcccaggggtgcactCaagccctgtttcttctcctt	7	16	3	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:31322436C>T	ENST00000269053.3	+	2	114	c.44C>T	c.(43-45)tCa>tTa	p.S15L	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_5'UTR|SPACA3_ENST00000394638.1_Intron	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	15					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GGGGTGCACTCAAGCCCTGTT	0.607													False	0	False	17:31322436	0	T	31322436	C	T	31322436	3	4	96	1	0	0	0	0	1	0	0	0	15053	838	29	2	50	2	SPACA3	17	31322436	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08		31322436	49872774	39	29592											
GPR179	440435	broad.mit.edu	37	chr17	36486065	36486065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggccggcctagcctgggCgatcgggagggtgcccccat	17	13	0	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:36486065C>T	ENST00000342292.4	-	11	3407	c.3387G>A	c.(3385-3387)tcG>tcA	p.S1129S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1129						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTAGCCTGGGCGATCGGGAGG	0.627													False	0	True	17:36486065	0	T	36486065	C	T	36486065	2	4	96	1	0	0	0	0	0	0	0	1	6720	755	27	1		1	GPR179	17	36486065	Silent	SNP	C	TCGA-IB-7891-01A-11D-2201-08	5163629	36486065	44709145	40	29593											
EFTUD2	9343	broad.mit.edu	37	chr17	42961062	42961062	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agggtcacatttctgatgagCtctgagttatccatcagatc	9	9	4	4			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:42961062C>G	ENST00000426333.2	-	5	678	c.381G>C	c.(379-381)gaG>gaC	p.E127D	EFTUD2_ENST00000592576.1_Missense_Mutation_p.E127D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E92D|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E127D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	127						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTCTGATGAGCTCTGAGTTAT	0.438													False	0	False	17:42961062	0	G	42961062	C	G	42961062	3	3	96	1	0	0	0	0	1	0	0	0	4991	796	28	5	2633	5	EFTUD2	17	42961062	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08	6474997	42961062	38234148	41	29594											
ITGA3	3675	broad.mit.edu	37	chr17	48151552	48151552	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcctgggttggccaccttCggctattccctcagtgggca	12	14	1	0	rs78768954	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:48151552C>T	ENST00000320031.8	+	9	1620	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	ITGA3_ENST00000544892.1_Silent_p.F205F|ITGA3_ENST00000007722.7_Silent_p.F430F	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	430					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGGCCACCTTCGGCTATTCCC	0.612													False	0	False	17:48151552	0	T	48151552	C	T	48151552	2	4	96	1	0	0	0	0	0	0	0	1	7927	883	31	1		1	ITGA3	17	48151552	Silent	SNP	C	TCGA-IB-7891-01A-11D-2201-08	5190490	48151552	33043658	42	29595											
CACNA1G	8913	broad.mit.edu	37	chr17	48678109	48678109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaggggaacgggtccgcgCgtggatccgagcccgactcc	15	14	0	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:48678109C>T	ENST00000352832.5	+	17	4016	c.3644C>T	c.(3643-3645)gCg>gTg	p.A1215V	CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1215V|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1215V|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000359106.5_Missense_Mutation_p.A1238V|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1215V|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1215V|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A1238V|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1238V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1238					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGGTCCGCGCGTGGATCCGA	0.627													False	0	True	17:48678109	0	T	48678109	C	T	48678109	3	4	96	1	0	0	0	0	1	0	0	0	2564	768	27	1	3783	1	CACNA1G	17	48678109	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08	526557	48678109	32517101	43	29596											
SMAD4	4089	broad.mit.edu	37	chr18	48575132	48575132	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcacaaaaatgaacTaaaacatgttaaatattgtc	4	6	2	2			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr18:48575132T>A	ENST00000342988.3	+	3	864	c.326T>A	c.(325-327)cTa>cAa	p.L109Q	SMAD4_ENST00000398417.2_Missense_Mutation_p.L109Q|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.L109Q|SMAD4_ENST00000452201.2_Missense_Mutation_p.L109Q	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	109	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AAAAATGAACTAAAACATGTT	0.393													False	0	True	18:48575132	0	A	48575132	T	A	48575132	3	1	96	1	0	0	0	0	1	0	0	0	14840	1522	53	5	332	5	SMAD4	18	48575132	Missense_Mutation	SNP	T	TCGA-IB-7891-01A-11D-2201-08		48575132	29502116	44	29597											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													False	0	True	19:9090831	0	G	9090831	A	G	9090831	2	3	96	1	0	0	0	0	0	0	0	1	10040	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-IB-7891-01A-11D-2201-08		9090831	50038152	45	29598											
NDUFA13	51079	broad.mit.edu	37	chr19	19640211	19640211	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccacttgccgacatgggaaGagcggagcttagctcaaatg	12	11	1	1			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:19640211G>A	ENST00000512771.3	+	6	474	c.464G>A	c.(463-465)aGa>aAa	p.R155K	CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000514277.4_Missense_Mutation_p.R33K|YJEFN3_ENST00000436027.5_Intron|YJEFN3_ENST00000608404.1_Intron|CTC-260F20.3_ENST00000555938.1_Intron					NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GACATGGGAAGAGCGGAGCTT	0.632													False	0	False	19:19640211	0	A	19640211	G	A	19640211	3	1	96	1	0	0	0	0	1	0	0	0	10331	942	33	2		2	NDUFA13	19	19640211	Missense_Mutation	SNP	G	TCGA-IB-7891-01A-11D-2201-08	10549380	19640211	39488772	46	29599											
ZNF486	90649	broad.mit.edu	37	chr19	20308264	20308264	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggcaaagtctttaagTacttctctagctttactaca	6	8	2	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:20308264T>A	ENST00000335117.8	+	4	802	c.745T>A	c.(745-747)Tac>Aac	p.Y249N	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGTCTTTAAGTACTTCTCTAG	0.393													False	0	False	19:20308264	0	A	20308264	T	A	20308264	3	1	96	1	0	0	0	0	1	0	0	0	18022	1638	57	5	759	5	ZNF486	19	20308264	Missense_Mutation	SNP	T	TCGA-IB-7891-01A-11D-2201-08	668053	20308264	38820719	47	29600											
TMEM91	641649	broad.mit.edu	37	chr19	41888851	41888861	+	Frame_Shift_Del	DEL	GGGGACTGGGC	GGGGACTGGGC	-													gtctgtgtgtgggacttggaGgggactgggcataaaagaga							TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	GGGGACTGGGC	GGGGACTGGGC	-	-	GGGGACTGGGC	GGGGACTGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:41888851_41888861delGGGGACTGGGC	ENST00000539627.1	+	3	706_716	c.385_395delGGGGACTGGGC	c.(385-396)ggggactgggcafs	p.GDWA129fs	TMEM91_ENST00000392002.2_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000447302.2_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000542945.1_Frame_Shift_Del_p.GDWA129fs|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000356385.4_Intron					transmembrane protein 91											lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGACTTGGAGGGGACTGGGCATAAAAGAGA	0.531													False	1	False	19:41888851	0	-	41888861	GGGGACTGGGC	-	41888851	7	5	96	1	0	1	0	1	0	0	0	0	16302	1015	35	0		0	TMEM91	19	41888851	Frame_Shift_Del	DEL	GGGGACTGGGC	TCGA-IB-7891-01A-11D-2201-08	21580587	41888851	17240132	48	29601											
PSG8	0	broad.mit.edu	37	chr19	43268141	43268141	+	Frame_Shift_Del	DEL	G	G	-													attatgatgtgtaaggtgtaGgatcctgcgtcttcctgggt					rs77145360		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:43268141delG	ENST00000404209.4	-	2	453	c.357delC	c.(355-357)tccfs	p.S119fs	PSG8_ENST00000306511.4_Frame_Shift_Del_p.S119fs|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Frame_Shift_Del_p.S119fs	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	119	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTAAGGTGTAGGATCCTGCGT	0.438													False	2	False	19:43268141	0	-	43268141	G	-	43268141	7	5	96	1	0	1	0	1	0	0	0	0	12737	987	35	0	960	0	PSG8	19	43268141	Frame_Shift_Del	DEL	G	TCGA-IB-7891-01A-11D-2201-08	1379290	43268141	15860842	49	29602											
NLRP8	126205	broad.mit.edu	37	chr19	56466153	56466153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cgctggtgtgctttctacttCcattgccaagaggtgaacca	10	11	1	2			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:56466153C>A	ENST00000291971.3	+	3	800	c.729C>A	c.(727-729)ttC>ttA	p.F243L	NLRP8_ENST00000590542.1_Missense_Mutation_p.F243L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	243	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTTCTACTTCCATTGCCAAG	0.507													False	0	False	19:56466153	0	A	56466153	C	A	56466153	3	1	96	1	0	0	0	0	1	0	0	0	10551	854	30	3	739	3	NLRP8	19	56466153	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08	13198012	56466153	2662830	50	29603											
NLRP8	126205	broad.mit.edu	37	chr19	56466562	56466562	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagggagaccaagtcTtgagtttcgccatggaaaac	13	8	1	3			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:56466562T>A	ENST00000291971.3	+	3	1209	c.1138T>A	c.(1138-1140)Ttg>Atg	p.L380M	NLRP8_ENST00000590542.1_Missense_Mutation_p.L380M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	380	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGACCAAGTCTTGAGTTTCGC	0.478													False	0	False	19:56466562	0	A	56466562	T	A	56466562	3	1	96	1	0	0	0	0	1	0	0	0	10551	1606	56	5	1148	5	NLRP8	19	56466562	Missense_Mutation	SNP	T	TCGA-IB-7891-01A-11D-2201-08	409	56466562	2662421	51	29604											
AURKA	6790	broad.mit.edu	37	chr20	54945655	54945655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatccaccttctcatcatgCatccgaccttcaatcatttc	3	15	4	1			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr20:54945655C>T	ENST00000395909.4	-	10	1480	c.915G>A	c.(913-915)atG>atA	p.M305I	AURKA_ENST00000312783.6_Missense_Mutation_p.M305I|AURKA_ENST00000371356.2_Missense_Mutation_p.M305I|AURKA_ENST00000395914.1_Missense_Mutation_p.M305I|AURKA_ENST00000347343.2_Missense_Mutation_p.M305I|AURKA_ENST00000395907.1_Missense_Mutation_p.M305I|AURKA_ENST00000395915.3_Missense_Mutation_p.M305I|AURKA_ENST00000395913.3_Missense_Mutation_p.M305I|AURKA_ENST00000395911.1_Missense_Mutation_p.M305I	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	305	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TCTCATCATGCATCCGACCTT	0.498													False	0	False	20:54945655	0	T	54945655	C	T	54945655	3	4	96	1	0	0	0	0	1	0	0	0	1225	710	25	2	304	2	AURKA	20	54945655	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08		54945655	8079865	52	29605											
KRTAP6-2	337967	broad.mit.edu	37	chr21	31971102	31971102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggagctatagccacagCgcaggcttccatagccatag	11	12	0	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr21:31971102C>T	ENST00000334897.3	-	1	117	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	31						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						ATAGCCACAGCGCAGGCTTCC	0.562													False	0	False	21:31971102	0	T	31971102	C	T	31971102	3	4	96	1	0	0	0	0	1	0	0	0	8621	768	27	1	99	1	KRTAP6-2	21	31971102	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08		31971102	16158793	53	29606											
FRMPD4	9758	broad.mit.edu	37	chrX	12735745	12735745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagtcagaaaacctctccCgcatgttcttggccactcac	6	15	4	1			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:12735745C>T	ENST00000380682.1	+	16	3306	c.2800C>T	c.(2800-2802)Cgc>Tgc	p.R934C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	934					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAACCTCTCCCGCATGTTCTT	0.547													False	0	True	X:12735745	0	T	12735745	C	T	12735745	3	4	96	1	0	0	0	0	1	0	0	0	6101	652	23	1	2862	1	FRMPD4	23	12735745	Missense_Mutation	SNP	C	TCGA-IB-7891-01A-11D-2201-08		12735745	142534815	54	29607											
PPEF1	5475	broad.mit.edu	37	chrX	18797154	18797154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccctcagagaggaacccGtatgtttttaatggtgactt	9	10	1	2			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:18797154G>A	ENST00000361511.4	+	10	1079	c.585G>A	c.(583-585)ccG>ccA	p.P195P	PPEF1_ENST00000543630.1_Silent_p.P195P|PPEF1_ENST00000359763.6_Silent_p.P142P|PPEF1_ENST00000349874.5_Silent_p.P195P|PPEF1_ENST00000544635.1_Silent_p.P130P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	195	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGAGGAACCCGTATGTTTTTA	0.408													False	0	True	X:18797154	0	A	18797154	G	A	18797154	2	1	96	1	0	0	0	0	0	0	0	1	12376	1132	40	1		1	PPEF1	23	18797154	Silent	SNP	G	TCGA-IB-7891-01A-11D-2201-08	6061409	18797154	136473406	55	29608											
DGKK	139189	broad.mit.edu	37	chrX	50213545	50213556	+	RNA	DEL	GCGGCGGAGCCG	GCGGCGGAGCCG	-													tggcgaagcctcggagagcaGcggcggagccggcggcggag							TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	GCGGCGGAGCCG	GCGGCGGAGCCG	-	-	GCGGCGGAGCCG	GCGGCGGAGCCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:50213545_50213556delGCGGCGGAGCCG	ENST00000376025.2	-	0	181_192							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGGAGAgcagcggcggagccggcggcggagc	0.693													False	1	False	X:50213545	0	-	50213556	GCGGCGGAGCCG	-	50213545	6	5	96	0	1	1	0	1	0	0	0	0	4502	962	34	0		0	DGKK	23	50213545	RNA	DEL	GCGGCGGAGCCG	TCGA-IB-7891-01A-11D-2201-08	31416391	50213545	105057015	56	29609											
SHROOM4	57477	broad.mit.edu	37	chrX	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-													aatactggggtggcagctccTcttcctcctcctctgcctcc					rs3747282	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:50350672_50350674delTCT	ENST00000460112.3	-	5	3574_3576	c.3120_3122delAGA	c.(3118-3123)gaagag>gag	p.1040_1041EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													False	1	False	X:50350672	0	-	50350674	TCT	-	50350672	7	5	96	1	0	1	0	1	0	0	0	0	14377	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-IB-7891-01A-11D-2201-08	137127	50350672	104919888	57	29610											
GJB1	2705	broad.mit.edu	37	chrX	70444246	70444246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctccaatccaccttcccGcaagggctcgggcttcggcc	10	19	0	0			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:70444246G>A	ENST00000374022.3	+	2	784	c.689G>A	c.(688-690)cGc>cAc	p.R230H	GJB1_ENST00000361726.6_Missense_Mutation_p.R230H|GJB1_ENST00000374029.1_Missense_Mutation_p.R230H	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	230			R -> C (in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques).|R -> L (in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					CCACCTTCCCGCAAGGGCTCG	0.602													False	0	True	X:70444246	0	A	70444246	G	A	70444246	3	1	96	1	0	0	0	0	1	0	0	0	6452	1087	38	1	691	1	GJB1	23	70444246	Missense_Mutation	SNP	G	TCGA-IB-7891-01A-11D-2201-08	20093574	70444246	84826314	58	29611											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	18	6	0	1			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:112058796C>T	ENST00000371959.3	-	2	1181	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582													False	0	True	X:112058796	0	T	112058796	C	T	112058796	2	4	96	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-IB-7891-01A-11D-2201-08	41614550	112058796	43211764	59	29612											
FLNA	0	broad.mit.edu	37	chrX	153581753	153581753	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcagcaggctgagatccGtctctgagatgttgatgggg	15	9	2	3			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:153581753G>T	ENST00000422373.1	-	36	6157	c.5909C>A	c.(5908-5910)aCg>aAg	p.T1970K	FLNA_ENST00000344736.4_Missense_Mutation_p.T1938K|FLNA_ENST00000369856.3_Missense_Mutation_p.T111K|FLNA_ENST00000360319.4_Missense_Mutation_p.T1970K|FLNA_ENST00000369850.3_Missense_Mutation_p.T1978K	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1978					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGAGATCCGTCTCTGAGAT	0.632													False	0	False	X:153581753	0	T	153581753	G	T	153581753	3	4	96	1	0	0	0	0	1	0	0	0	5973	1145	40	3	2058	3	FLNA	23	153581753	Missense_Mutation	SNP	G	TCGA-IB-7891-01A-11D-2201-08	41522957	153581753	1688807	60	29613											
ATAD3A	55210	broad.mit.edu	37	chr1	1447653	1447653	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cggcggcggtgcgagcatgtCgtggctcttcggcattaaca	15	11	1	0			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:1447653C>A	ENST00000378755.5	+	1	99	c.5C>A	c.(4-6)tCg>tAg	p.S2*	ATAD3A_ENST00000378756.3_Nonsense_Mutation_p.S2*	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	2							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GCGAGCATGTCGTGGCTCTTC	0.786													False	0	False	1:1447653	0	A	1447653	C	A	1447653	4	1	97	1	0	0	0	0	0	1	0	0	1077	893	31	3	7	3	ATAD3A	1	1447653	Nonsense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08		1447653	247802968	1	29614											
AJAP1	55966	broad.mit.edu	37	chr1	4772232	4772232	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgcctcgagccagacgggCccacaggccccgggaccagg	15	16	0	1			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:4772232C>A	ENST00000378191.4	+	2	683	c.302C>A	c.(301-303)gCc>gAc	p.A101D	AJAP1_ENST00000378190.3_Missense_Mutation_p.A101D	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	101					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GCCAGACGGGCCCACAGGCCC	0.736													False	0	True	1:4772232	0	A	4772232	C	A	4772232	3	1	97	1	0	0	0	0	1	0	0	0	438	739	26	3	308	3	AJAP1	1	4772232	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08	3324579	4772232	244478389	2	29615											
LRRC7	57554	broad.mit.edu	37	chr1	70486728	70486728	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttaaccctacactgtgGgaagagcagagacaacaacg	10	10	0	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:70486728G>A	ENST00000310961.5	+	17	1780	c.1362G>A	c.(1360-1362)tgG>tgA	p.W454*	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.W449*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	449						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTACACTGTGGGAAGAGCAGA	0.348													False	0	True	1:70486728	0	A	70486728	G	A	70486728	4	1	97	1	0	0	0	0	0	1	0	0	9082	1241	43	2	1401	2	LRRC7	1	70486728	Nonsense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	65714496	70486728	178763893	3	29616											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	97	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-IB-7893-01A-11D-2201-08	82184787	152671515	96579106	4	29617											
PRRX1	5396	broad.mit.edu	37	chr1	170699464	170699464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacgaggggcttcataacGgattctaacggaagacactg	11	9	2	1	rs148536447		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr1:170699464G>A	ENST00000367760.3	+	4	1731	c.646G>A	c.(646-648)Gga>Aga	p.G216R	PRRX1_ENST00000476867.2_Intron|PRRX1_ENST00000239461.6_Intron	NM_006902.3	NP_008833.1	P54821	PRRX1_HUMAN	paired related homeobox 1	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTTCATAACGGATTCTAACG	0.453													False	0	False	1:170699464	0	A	170699464	G	A	170699464	3	1	97	1	0	0	0	0	1	0	0	0	12688	1117	39	1	660	1	PRRX1	1	170699464	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	18027949	170699464	78551157	5	29618											
TMEM18	129787	broad.mit.edu	37	chr2	669842	669842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtcgaaatactggtatttcGaaaataatctgtttaaaaaa	6	4	1	0			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:669842G>A	ENST00000281017.3	-	4	335	c.242C>T	c.(241-243)tCg>tTg	p.S81L	TMEM18_ENST00000355654.2_Missense_Mutation_p.S68L|TMEM18_ENST00000405941.3_Missense_Mutation_p.S84L	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	81					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CTGGTATTTCGAAAATAATCT	0.368													False	0	True	2:669842	0	A	669842	G	A	669842	3	1	97	1	0	0	0	0	1	0	0	0	16180	1059	37	1	188	1	TMEM18	2	669842	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08		669842	242529531	6	29619											
SULT1C2	6819	broad.mit.edu	37	chr2	108917367	108917367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccactcagctgctgccaccGtctttctgggaaaacaactg	8	14	3	0			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:108917367G>A	ENST00000326853.5	+	5	837	c.384G>A	c.(382-384)ccG>ccA	p.P128P	SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000251481.6_Silent_p.P117P|SULT1C2_ENST00000437390.2_Silent_p.P131P	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	117			Y -> H (in dbSNP:rs17036091).		3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TGCTGCCACCGTCTTTCTGGG	0.488													False	0	False	2:108917367	0	A	108917367	G	A	108917367	2	1	97	1	0	0	0	0	0	0	0	1	15459	1132	40	1		1	SULT1C2	2	108917367	Silent	SNP	G	TCGA-IB-7893-01A-11D-2201-08	108247525	108917367	134282006	7	29620											
LRP1B	53353	broad.mit.edu	37	chr2	141771238	141771238	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatggaaccattcataTaatcagtccagaacacataa	5	8	2	1			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:141771238T>A	ENST00000389484.3	-	14	3238	c.2267A>T	c.(2266-2268)tAt>tTt	p.Y756F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	756					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCATTCATATAATCAGTCCA	0.388										TSP Lung(27;0.18)			False	0	False	2:141771238	0	A	141771238	T	A	141771238	3	1	97	1	0	0	0	0	1	0	0	0	9017	1406	49	5	11844	5	LRP1B	2	141771238	Missense_Mutation	SNP	T	TCGA-IB-7893-01A-11D-2201-08	32853871	141771238	101428135	8	29621											
LRP2	4036	broad.mit.edu	37	chr2	170092528	170092528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgccgtccatgctggctCgctcgatgcgagggtggtgg	17	11	0	0			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:170092528C>T	ENST00000263816.3	-	29	5027	c.4742G>A	c.(4741-4743)cGa>cAa	p.R1581Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1581					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATGCTGGCTCGCTCGATGCG	0.512													False	0	True	2:170092528	0	T	170092528	C	T	170092528	3	4	97	1	0	0	0	0	1	0	0	0	9018	884	31	1	9429	1	LRP2	2	170092528	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08	28321290	170092528	73106845	9	29622											
ZNF142	7701	broad.mit.edu	37	chr2	219503301	219503301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtgagggcatgatggcGcaggccagcagcccagcgga	19	10	0	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:219503301G>A	ENST00000411696.2	-	9	5604	c.4825C>T	c.(4825-4827)Cgc>Tgc	p.R1609C	ZNF142_ENST00000449707.1_Missense_Mutation_p.R1609C			P52746	ZN142_HUMAN	zinc finger protein 142	1609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCATGATGGCGCAGGCCAGCA	0.612													False	0	False	2:219503301	0	A	219503301	G	A	219503301	3	1	97	1	0	0	0	0	1	0	0	0	17814	1087	38	1	242	1	ZNF142	2	219503301	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	49410773	219503301	23696072	10	29623											
STK36	27148	broad.mit.edu	37	chr2	219545333	219545333	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcctccggcagggaaaacCggaccaccccagattgtgaa	10	14	0	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr2:219545333C>A	ENST00000295709.3	+	10	1423	c.1144C>A	c.(1144-1146)Cgg>Agg	p.R382R	STK36_ENST00000392105.3_Silent_p.R382R|STK36_ENST00000392106.2_Silent_p.R382R|STK36_ENST00000440309.1_Silent_p.R382R	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	382					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CAGGGAAAACCGGACCACCCC	0.552													False	0	False	2:219545333	0	A	219545333	C	A	219545333	2	1	97	1	0	0	0	0	0	0	0	1	15384	643	23	3		3	STK36	2	219545333	Silent	SNP	C	TCGA-IB-7893-01A-11D-2201-08	42032	219545333	23654040	11	29624											
DOCK3	1795	broad.mit.edu	37	chr3	51370621	51370621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgaacaagaaacatggcGcgagaccggcatttcctttg	12	9	0	3			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:51370621G>A	ENST00000266037.9	+	35	3571	c.3548G>A	c.(3547-3549)cGc>cAc	p.R1183H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1183	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAAACATGGCGCGAGACCGGC	0.532													False	0	False	3:51370621	0	A	51370621	G	A	51370621	3	1	97	1	0	0	0	0	1	0	0	0	4718	1087	38	1	3686	1	DOCK3	3	51370621	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08		51370621	146651809	12	29625											
PODXL2	50512	broad.mit.edu	37	chr3	127387409	127387409	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcccagcgagaaggagcaGcaccttctcatgacactggt	11	12	1	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:127387409G>A	ENST00000342480.6	+	5	1371	c.1332G>A	c.(1330-1332)caG>caA	p.Q444Q		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	444					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						AGAAGGAGCAGCACCTTCTCA	0.687													False	0	False	3:127387409	0	A	127387409	G	A	127387409	2	1	97	1	0	0	0	0	0	0	0	1	12250	962	34	2		2	PODXL2	3	127387409	Silent	SNP	G	TCGA-IB-7893-01A-11D-2201-08	76016788	127387409	70635021	13	29626											
ATP13A3	79572	broad.mit.edu	37	chr3	194147858	194147858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgtttgacccaaaaaaaaCccaaagattgaaatccaatg	6	9	0	3			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr3:194147858C>A	ENST00000439040.1	-	29	3862	c.3071G>T	c.(3070-3072)gGt>gTt	p.G1024V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.G1024V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1024					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCAAAAAAAACCCAAAGATTG	0.393													False	0	True	3:194147858	0	A	194147858	C	A	194147858	3	1	97	1	0	0	0	0	1	0	0	0	1129	507	18	3	629	3	ATP13A3	3	194147858	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08	66760449	194147858	3874572	14	29627											
C4orf22	255119	broad.mit.edu	37	chr4	81791173	81791173	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atctttattcgtgacagaaaTtctcatgggcaagagatatc	8	7	2	3			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:81791173T>A	ENST00000358105.3	+	4	409	c.360T>A	c.(358-360)aaT>aaA	p.N120K	C4orf22_ENST00000508675.1_Missense_Mutation_p.N137K	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	120										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GTGACAGAAATTCTCATGGGC	0.363													False	0	True	4:81791173	0	A	81791173	T	A	81791173	3	1	97	1	0	0	0	0	1	0	0	0	2272	1490	52	5	374	5	C4orf22	4	81791173	Missense_Mutation	SNP	T	TCGA-IB-7893-01A-11D-2201-08		81791173	109363103	15	29628											
FAT4	79633	broad.mit.edu	37	chr4	126372829	126372829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacttgctgagcacaggtcCtgccaccagttatttcagtc	8	12	1	1			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr4:126372829C>T	ENST00000394329.3	+	9	10671	c.10658C>T	c.(10657-10659)cCt>cTt	p.P3553L	FAT4_ENST00000335110.5_Missense_Mutation_p.P1851L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3553	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCACAGGTCCTGCCACCAGT	0.493													False	0	False	4:126372829	0	T	126372829	C	T	126372829	3	4	97	1	0	0	0	0	1	0	0	0	5732	681	24	2	10692	2	FAT4	4	126372829	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08	44581656	126372829	64781447	16	29629											
BRPF3	27154	broad.mit.edu	37	chr6	36182091	36182091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaggaagagcgccactccCggaagcggccaaggagcagg	16	12	0	1	rs148223802	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:36182091C>T	ENST00000357641.6	+	8	3170	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.R973W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	973					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	p.R973W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCGCCACTCCCGGAAGCGGCC	0.617													False	0	True	6:36182091	0	T	36182091	C	T	36182091	3	4	97	1	0	0	0	0	1	0	0	0	1528	643	23	1	2943	1	BRPF3	6	36182091	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08		36182091	134932976	17	29630											
PXT1	222659	broad.mit.edu	37	chr6	36368246	36368246	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctctcgaaccatcctAtgatcaatgttgtccccaat	4	15	3	1			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:36368246A>G	ENST00000454782.2	-	4	768	c.285T>C	c.(283-285)caT>caC	p.H95H		NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	12						peroxisome											GAACCATCCTATGATCAATGT	0.507													False	0	False	6:36368246	0	G	36368246	A	G	36368246	2	3	97	1	0	0	0	0	0	0	0	1	12932	446	16	4		4	PXT1	6	36368246	Silent	SNP	A	TCGA-IB-7893-01A-11D-2201-08	186155	36368246	134746821	18	29631											
LRP11	84918	broad.mit.edu	37	chr6	150164252	150164252	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagcttcagggttcctgaTtgaggcacctgccacacaga	11	12	1	3			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:150164252T>C	ENST00000239367.2	-	3	785	c.780A>G	c.(778-780)caA>caG	p.Q260Q	LRP11_ENST00000546019.1_Silent_p.Q5Q|LRP11_ENST00000367368.2_Silent_p.Q260Q	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	260	PKD.					integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GGGTTCCTGATTGAGGCACCT	0.577													False	0	False	6:150164252	0	C	150164252	T	C	150164252	2	2	97	1	0	0	0	0	0	0	0	1	9015	1490	52	4		4	LRP11	6	150164252	Silent	SNP	T	TCGA-IB-7893-01A-11D-2201-08	113796006	150164252	20950815	19	29632											
FNDC1	84624	broad.mit.edu	37	chr6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-													agcagtcggtctcagccgagGacgacgaggaggaggacgcg							TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65													False	2	False	6:159655079	0	-	159655081	GAC	-	159655079	7	5	97	1	0	1	0	1	0	0	0	0	6008	1174	41	0	3577	0	FNDC1	6	159655079	In_Frame_Del	DEL	GAC	TCGA-IB-7893-01A-11D-2201-08	9490827	159655079	11459988	20	29633											
DAGLB	221955	broad.mit.edu	37	chr7	6465643	6465643	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatggaagctgacgtggatGaagtccctgtactgcagccc	12	11	1	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:6465643G>A	ENST00000297056.6	-	7	1201	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	DAGLB_ENST00000421761.2_Silent_p.F88F|DAGLB_ENST00000425398.2_Silent_p.F215F|DAGLB_ENST00000428902.2_Silent_p.F217F|DAGLB_ENST00000436575.1_Silent_p.F303F	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	344					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TGACGTGGATGAAGTCCCTGT	0.532													False	0	False	7:6465643	0	A	6465643	G	A	6465643	2	1	97	1	0	0	0	0	0	0	0	1	4252	1281	45	2		2	DAGLB	7	6465643	Silent	SNP	G	TCGA-IB-7893-01A-11D-2201-08		6465643	152673020	21	29634											
AHR	196	broad.mit.edu	37	chr7	17379385	17379385	+	Frame_Shift_Del	DEL	C	C	-													gtcagaagatgaagcacatgCaagttaatggcatgtttgaa							TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:17379385delC	ENST00000242057.4	+	10	2579	c.1936delC	c.(1936-1938)caafs	p.Q646fs		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	646					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GAAGCACATGCAAGTTAATGG	0.418													False	1	False	7:17379385	0	-	17379385	C	-	17379385	7	5	97	1	0	1	0	1	0	0	0	0	416	711	25	0	1974	0	AHR	7	17379385	Frame_Shift_Del	DEL	C	TCGA-IB-7893-01A-11D-2201-08	10913742	17379385	141759278	22	29635											
DOCK4	9732	broad.mit.edu	37	chr7	111503593	111503593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaacagttctgagtacaCggcagggaaagagctcagaa	11	9	3	3			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:111503593C>T	ENST00000428084.1	-	23	2580	c.2308G>A	c.(2308-2310)Gtg>Atg	p.V770M	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.V770M			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	770					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.V758M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCTGAGTACACGGCAGGGAAA	0.478													False	0	False	7:111503593	0	T	111503593	C	T	111503593	3	4	97	1	0	0	0	0	1	0	0	0	4719	536	19	1	3712	1	DOCK4	7	111503593	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08	94124208	111503593	47635070	23	29636											
CFTR	1080	broad.mit.edu	37	chr7	117250657	117250657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagtgccagtgatagtgGcttttattatgttgagagca	11	6	0	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:117250657G>A	ENST00000003084.6	+	19	3205	c.3073G>A	c.(3073-3075)Gct>Act	p.A1025T	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.A964T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1025	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGTGATAGTGGCTTTTATTAT	0.383									Cystic Fibrosis				False	0	False	7:117250657	0	A	117250657	G	A	117250657	3	1	97	1	0	0	0	0	1	0	0	0	3317	1203	42	2	3147	2	CFTR	7	117250657	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	5747064	117250657	41888006	24	29637											
WASL	8976	broad.mit.edu	37	chr7	123349222	123349222	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	caacaccactgcacttctttGaccacatacagttccgatct	4	15	2	1			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr7:123349222G>A	ENST00000223023.4	-	2	505	c.173C>T	c.(172-174)tCa>tTa	p.S58L		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	58	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCACTTCTTTGACCACATACA	0.338													False	0	True	7:123349222	0	A	123349222	G	A	123349222	3	1	97	1	0	0	0	0	1	0	0	0	17340	1294	45	2	1384	2	WASL	7	123349222	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	6098565	123349222	35789441	25	29638											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19363332	19363332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacgcaagcagcccccggCgaaccatcatcattcaggaa	8	16	3	0			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:19363332C>T	ENST00000454498.2	-	4	1027	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R5H|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R5H	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	5					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CAGCCCCCGGCGAACCATCAT	0.602													False	0	False	8:19363332	0	T	19363332	C	T	19363332	3	4	97	1	0	0	0	0	1	0	0	0	3963	768	27	1	1612	1	CSGALNACT1	8	19363332	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08		19363332	127000690	26	29639											
LZTS1	11178	broad.mit.edu	37	chr8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-													agctcattctcacagacctcCagctccaggcccttggtgcg					rs148039718	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENST00000381569.1	-	4	1651_1698	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel	p.RTQDLEGALRTKGLEL432del	LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	432					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACAGACCTCCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCTCAGCTCCAGG	0.657													False	1	True	8:20107683	0	-	20107730	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	20107683	7	5	97	1	0	1	0	1	0	0	0	0	9201	581	21	0	453	0	LZTS1	8	20107683	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	TCGA-IB-7893-01A-11D-2201-08	744351	20107683	126256339	27	29640											
VPS13B	157680	broad.mit.edu	37	chr8	100791108	100791108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactatgcaaagtgtggTgaaacccttcagcatcttcg	9	10	3	1			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr8:100791108T>C	ENST00000358544.2	+	42	7814	c.7703T>C	c.(7702-7704)gTg>gCg	p.V2568A	VPS13B_ENST00000357162.2_Missense_Mutation_p.V2543A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2568					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAAGTGTGGTGAAACCCTTC	0.448													False	0	False	8:100791108	0	C	100791108	T	C	100791108	3	2	97	1	0	0	0	0	1	0	0	0	17274	1696	59	4	8059	4	VPS13B	8	100791108	Missense_Mutation	SNP	T	TCGA-IB-7893-01A-11D-2201-08	80683425	100791108	45572914	28	29641											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18753360	18753360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggcctacagaccagagacGtcttctgcagccacctgctt	9	15	2	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:18753360G>A	ENST00000380548.4	+	16	2410	c.2071G>A	c.(2071-2073)Gtc>Atc	p.V691I		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	691	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACCAGAGACGTCTTCTGCAG	0.532													False	0	False	9:18753360	0	A	18753360	G	A	18753360	3	1	97	1	0	0	0	0	1	0	0	0	274	1145	40	1	2137	1	ADAMTSL1	9	18753360	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08		18753360	122460071	29	29642											
SVEP1	79987	broad.mit.edu	37	chr9	113205879	113205879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accgtcagataatttcccatCgatatagactttccagatgc	6	11	1	3			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:113205879C>A	ENST00000401783.2	-	27	4921	c.4585G>T	c.(4585-4587)Gat>Tat	p.D1529Y	SVEP1_ENST00000302728.8_Missense_Mutation_p.D1529Y|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1506Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1529	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATTTCCCATCGATATAGACT	0.438													False	0	False	9:113205879	0	A	113205879	C	A	113205879	3	1	97	1	0	0	0	0	1	0	0	0	15502	884	31	3	6218	3	SVEP1	9	113205879	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08	94452519	113205879	28007552	30	29643											
EHMT1	79813	broad.mit.edu	37	chr9	140695429	140695430	+	Frame_Shift_Del	DEL	GA	GA	-													gggctctgacatcaacatccGagacaacgtaagttcgtcac							TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr9:140695429_140695430delGA	ENST00000460843.1	+	18	2732_2733	c.2705_2706delGA	c.(2704-2706)cgafs	p.R902fs		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	902					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ATCAACATCCGAGACAACGTAA	0.589													False	2	False	9:140695429	0	-	140695430	GA	-	140695429	7	5	97	1	0	1	0	1	0	0	0	0	5013	1058	37	0	2824	0	EHMT1	9	140695429	Frame_Shift_Del	DEL	GA	TCGA-IB-7893-01A-11D-2201-08	27489550	140695429	518002	31	29644											
POLR3A	11128	broad.mit.edu	37	chr10	79761987	79761987	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagagccatggtgagggggCtgttgctcttgtccagctcc	14	11	1	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:79761987C>A	ENST00000372371.3	-	17	2464	c.2327G>T	c.(2326-2328)aGc>aTc	p.S776I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	776					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGTGAGGGGGCTGTTGCTCTT	0.587													False	0	True	10:79761987	0	A	79761987	C	A	79761987	3	1	97	1	0	0	0	0	1	0	0	0	12297	797	28	3	1905	3	POLR3A	10	79761987	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08		79761987	55772760	32	29645											
PNLIP	5406	broad.mit.edu	37	chr10	118315573	118315573	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaatattacactgatagcatCgtcaaccctgatggctttgc	7	10	1	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr10:118315573C>T	ENST00000369221.2	+	9	901	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	291					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CTGATAGCATCGTCAACCCTG	0.433													False	0	False	10:118315573	0	T	118315573	C	T	118315573	2	4	97	1	0	0	0	0	0	0	0	1	12218	874	31	1		1	PNLIP	10	118315573	Silent	SNP	C	TCGA-IB-7893-01A-11D-2201-08	38553586	118315573	17219174	33	29646											
AMPD3	272	broad.mit.edu	37	chr11	10518392	10518392	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagaagctgctgccaaaCtttgggaagatgctggagaa	12	7	1	3			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:10518392C>T	ENST00000444303.2	+	9	1459	c.987C>T	c.(985-987)aaC>aaT	p.N329N	AMPD3_ENST00000396554.3_Silent_p.N497N	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	488					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCTGCCAAACTTTGGGAAGA	0.502													False	0	True	11:10518392	0	T	10518392	C	T	10518392	2	4	97	1	0	0	0	0	0	0	0	1	587	564	20	2		2	AMPD3	11	10518392	Silent	SNP	C	TCGA-IB-7893-01A-11D-2201-08		10518392	124488124	34	29647											
AGBL2	79841	broad.mit.edu	37	chr11	47684620	47684620	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaatcagggtggccatTgatgggtccaggggggtgtc	19	7	1	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:47684620T>A	ENST00000525123.1	-	18	2778	c.2493A>T	c.(2491-2493)tcA>tcT	p.S831S	AGBL2_ENST00000357610.3_Silent_p.S833S|AGBL2_ENST00000298861.4_Silent_p.S831S	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	831					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GGGTGGCCATTGATGGGTCCA	0.353													False	0	False	11:47684620	0	A	47684620	T	A	47684620	2	1	97	1	0	0	0	0	0	0	0	1	376	1799	63	5		5	AGBL2	11	47684620	Silent	SNP	T	TCGA-IB-7893-01A-11D-2201-08	37166228	47684620	87321896	35	29648											
OR4C6	219432	broad.mit.edu	37	chr11	55433006	55433006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggcctatgaccgctacGtggccatctgtaagcccctg	11	13	1	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:55433006G>A	ENST00000314259.3	+	1	393	c.364G>A	c.(364-366)Gtg>Atg	p.V122M		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V122L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGACCGCTACGTGGCCATCTG	0.547													False	0	False	11:55433006	0	A	55433006	G	A	55433006	3	1	97	1	0	0	0	0	1	0	0	0	11120	1145	40	1	366	1	OR4C6	11	55433006	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	7748386	55433006	79573510	36	29649											
RAB6A	5870	broad.mit.edu	37	chr11	73471653	73471653	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagcttgaatttcctcagcgGattcccgaagtctccgcccg	9	15	2	1			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:73471653G>T	ENST00000310653.6	-	1	529	c.28C>A	c.(28-30)Ccg>Acg	p.P10T	RAB6A_ENST00000541588.1_Missense_Mutation_p.P10T|RAB6A_ENST00000336083.3_Missense_Mutation_p.P10T|RP11-707G14.1_ENST00000540547.1_RNA	NM_001077637.1|NM_002869.4	NP_001071105.1|NP_002860.2	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	10					minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding			large_intestine(2)|lung(2)	4						TTCCTCAGCGGATTCCCGAAG	0.667													False	0	False	11:73471653	0	T	73471653	G	T	73471653	3	4	97	1	0	0	0	0	1	0	0	0	13030	1174	41	3	740	3	RAB6A	11	73471653	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	18038647	73471653	61534863	37	29650											
CNTN5	53942	broad.mit.edu	37	chr11	100211266	100211266	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	actagagggaatgagtctttCgtcatcctaacaggattaga	10	7	2	3			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:100211266C>A	ENST00000524871.1	+	22	3092	c.2802C>A	c.(2800-2802)ttC>ttA	p.F934L	CNTN5_ENST00000528682.1_Missense_Mutation_p.F934L|CNTN5_ENST00000279463.3_Missense_Mutation_p.F934L|CNTN5_ENST00000418526.2_Missense_Mutation_p.F860L|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	934	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.F934F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATGAGTCTTTCGTCATCCTAA	0.423													False	0	True	11:100211266	0	A	100211266	C	A	100211266	3	1	97	1	0	0	0	0	1	0	0	0	3667	883	31	3	2880	3	CNTN5	11	100211266	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08	26739613	100211266	34795250	38	29651											
DYNC2H1	79659	broad.mit.edu	37	chr11	103175414	103175414	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgtttgaagaacttaCatcttgtggtatcttggctg	11	7	3	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr11:103175414C>A	ENST00000375735.2	+	77	11491	c.11347C>A	c.(11347-11349)Cat>Aat	p.H3783N	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.H3790N|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3783	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAAGAACTTACATCTTGTGGT	0.398													False	0	False	11:103175414	0	A	103175414	C	A	103175414	3	1	97	1	0	0	0	0	1	0	0	0	4876	478	17	3	11678	3	DYNC2H1	11	103175414	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08	2964148	103175414	31831102	39	29652											
GPRC5A	0	broad.mit.edu	37	chr12	13061419	13061420	+	Frame_Shift_Ins	INS	-	-	TGGC													ctgggtgtgttgggcatcttINStggcctcaccttcgccttca							TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:13061419_13061420insTGGC	ENST00000014914.5	+	2	1126_1127	c.236_237insTGGC	c.(235-240)tttggcfs	p.-80fs	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A							cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTGGGCATCTTTGGCCTCACCT	0.559													False	1	True	12:13061419	0	TGGC	13061420	-	TGGC	13061419	7	5	97	1	0	1	1	0	0	0	0	0	6771	1841	64	0	238	0	GPRC5A	12	13061419	Frame_Shift_Ins	INS	-	TCGA-IB-7893-01A-11D-2201-08		13061419	120790476	40	29653											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	97	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08	12336865	25398284	108453611	41	29654											
ACSS3	79611	broad.mit.edu	37	chr12	81624902	81624902	+	Frame_Shift_Del	DEL	C	C	-													gaagcattcaagcatttataCtttgaaaaatttcctgtaag							TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr12:81624902delC	ENST00000548058.1	+	12	2491	c.1581delC	c.(1579-1581)tacfs	p.Y527fs	ACSS3_ENST00000261206.3_Frame_Shift_Del_p.Y526fs|ACSS3_ENST00000548324.1_Frame_Shift_Del_p.Y209fs			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	527						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGCATTTATACTTTGAAAAAT	0.308													False	1	True	12:81624902	0	-	81624902	C	-	81624902	7	5	97	1	0	1	0	1	0	0	0	0	190	576	20	0	1627	0	ACSS3	12	81624902	Frame_Shift_Del	DEL	C	TCGA-IB-7893-01A-11D-2201-08	56226618	81624902	52226993	42	29655											
F10	2159	broad.mit.edu	37	chr13	113803461	113803461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattgtgagcggcttcgggcGcacccacgagaagggccggc	17	12	0	2	rs143715673		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr13:113803461G>A	ENST00000375559.3	+	8	1135	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	366	Peptidase S1.		R -> C (in FA10D; San Antonio).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTTCGGGCGCACCCACGAG	0.647													False	0	False	13:113803461	0	A	113803461	G	A	113803461	3	1	97	1	0	0	0	0	1	0	0	0	5369	1087	38	1	1127	1	F10	13	113803461	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08		113803461	1366417	43	29656											
TMX1	81542	broad.mit.edu	37	chr14	51716045	51716045	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcttttatttttaggAtgagtagtatgtcagcactc	7	7	3	1			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:51716045A>T	ENST00000457354.2	+	5	570	c.445A>T	c.(445-447)Atg>Ttg	p.M149L		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	149					anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						TATTTTTAGGATGAGTAGTAT	0.284													False	0	False	14:51716045	0	T	51716045	A	T	51716045	5	4	97	1	0	0	0	0	0	0	1	0	16348	347	12	5	463	5	TMX1	14	51716045	Splice_Site	SNP	A	TCGA-IB-7893-01A-11D-2201-08		51716045	55633495	44	29657											
CCNK	8812	broad.mit.edu	37	chr14	99968673	99968673	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatgtataggagatggtgGgagcagtttgttcaagatgt	14	5	1	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:99968673G>A	ENST00000389879.5	+	7	828	c.705G>A	c.(703-705)tgG>tgA	p.W235*	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Nonsense_Mutation_p.W235*	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	235					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				GGAGATGGTGGGAGCAGTTTG	0.463													False	0	True	14:99968673	0	A	99968673	G	A	99968673	4	1	97	1	0	0	0	0	0	1	0	0	2953	1241	43	2	727	2	CCNK	14	99968673	Nonsense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	48252628	99968673	7380867	45	29658											
JAG2	3714	broad.mit.edu	37	chr14	105609113	105609113	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcctgaggcccagtgggcCggcctccccggcgagcggcc	18	17	0	1	rs3122382		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:105609113C>A	ENST00000331782.3	-	26	4039	c.3636G>T	c.(3634-3636)ccG>ccT	p.P1212P	JAG2_ENST00000347004.2_Silent_p.P1174P	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1212					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCCAGTGGGCCGGCCTCCCCG	0.672													False	0	True	14:105609113	0	A	105609113	C	A	105609113	2	1	97	1	0	0	0	0	0	0	0	1	7985	639	23	3		3	JAG2	14	105609113	Silent	SNP	C	TCGA-IB-7893-01A-11D-2201-08	5640440	105609113	1740427	46	29659											
NUDT14	256281	broad.mit.edu	37	chr14	105639421	105639421	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagacaccaaagatgacgccGagggtcttggggatgtccgg	16	9	1	3			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr14:105639421G>A	ENST00000392568.2	-	5	699	c.606C>T	c.(604-606)ctC>ctT	p.L202L	RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	202	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGATGACGCCGAGGGTCTTGG	0.632										HNSCC(42;0.11)			False	0	False	14:105639421	0	A	105639421	G	A	105639421	2	1	97	1	0	0	0	0	0	0	0	1	10798	1045	37	1		1	NUDT14	14	105639421	Silent	SNP	G	TCGA-IB-7893-01A-11D-2201-08	30308	105639421	1710119	47	29660											
PTX4	390667	broad.mit.edu	37	chr16	1536305	1536305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatgtggtgccactggcCgtccagcagcagctgcaagg	14	12	0	1	rs139020235	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:1536305C>T	ENST00000447419.2	-	3	1097	c.1072G>A	c.(1072-1074)Ggc>Agc	p.G358S	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.G353S			Q96A99	PTX4_HUMAN	pentraxin 4, long	358	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGCCACTGGCCGTCCAGCAGC	0.672													False	0	False	16:1536305	0	T	1536305	C	T	1536305	3	4	97	1	0	0	0	0	1	0	0	0	12902	652	23	1	367	1	PTX4	16	1536305	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08		1536305	88818448	48	29661											
UBN1	29855	broad.mit.edu	37	chr16	4920917	4920917	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaagatgaagaaaaAgggggcaggaggataatggg	19	1	0	4			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:4920917A>G	ENST00000396658.4	+	10	2206	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K	UBN1_ENST00000262376.6_Silent_p.K501K|UBN1_ENST00000545171.1_Silent_p.K501K|UBN1_ENST00000590769.1_Silent_p.K501K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	501					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.K501K(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGAAGAAAAAGGGGGCAGGA	0.522													False	0	True	16:4920917	0	G	4920917	A	G	4920917	2	3	97	1	0	0	0	0	0	0	0	1	16976	69	3	4		4	UBN1	16	4920917	Silent	SNP	A	TCGA-IB-7893-01A-11D-2201-08	3384612	4920917	85433836	49	29662											
SMG1	23049	broad.mit.edu	37	chr16	18882786	18882786	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaacagctgcttccaaagcCcaagtcattaacagtttcct	5	12	1	0			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:18882786C>A	ENST00000446231.2	-	16	2614	c.2202G>T	c.(2200-2202)tgG>tgT	p.W734C	SMG1_ENST00000389467.3_Missense_Mutation_p.W734C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	734	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTTCCAAAGCCCAAGTCATTA	0.338													False	0	True	16:18882786	0	A	18882786	C	A	18882786	3	1	97	1	0	0	0	0	1	0	0	0	14875	624	22	3	8975	3	SMG1	16	18882786	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08	13961869	18882786	71471967	50	29663											
SLC12A3	0	broad.mit.edu	37	chr16	56924262	56924262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtgtccaagatgatgcagGcgcacagtgagtacatgccc	12	11	0	3			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:56924262G>A	ENST00000438926.2	+	19	2391	c.2362G>A	c.(2362-2364)Gcg>Acg	p.A788T	SLC12A3_ENST00000566786.1_Missense_Mutation_p.A787T|SLC12A3_ENST00000563236.1_Missense_Mutation_p.A788T|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A787T	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	788					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GATGATGCAGGCGCACAGTGA	0.458													False	0	False	16:56924262	0	A	56924262	G	A	56924262	3	1	97	1	0	0	0	0	1	0	0	0	14465	1203	42	2	2436	2	SLC12A3	16	56924262	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	38041476	56924262	33430491	51	29664											
FUK	197258	broad.mit.edu	37	chr16	70500121	70500121	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcccccgtggaagccttggtCtgcaacctggactgcctgct	12	15	1	0			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr16:70500121C>A	ENST00000288078.6	+	5	604	c.372C>A	c.(370-372)gtC>gtA	p.V124V	FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Silent_p.V107V|FUK_ENST00000378912.2_Silent_p.V156V	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	124						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				AAGCCTTGGTCTGCAACCTGG	0.637													False	0	False	16:70500121	0	A	70500121	C	A	70500121	2	1	97	1	0	0	0	0	0	0	0	1	6138	900	32	3		3	FUK	16	70500121	Silent	SNP	C	TCGA-IB-7893-01A-11D-2201-08	13575859	70500121	19854632	52	29665											
TP53	7157	broad.mit.edu	37	chr17	7577520	7577520	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcttccagtgtgatgAtggtgaggatgggcctccgg	17	7	1	3			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:7577520A>C	ENST00000420246.2	-	7	893	c.761T>G	c.(760-762)aTc>aGc	p.I254S	TP53_ENST00000359597.4_Missense_Mutation_p.I254S|TP53_ENST00000413465.2_Missense_Mutation_p.I254S|TP53_ENST00000445888.2_Missense_Mutation_p.I254S|TP53_ENST00000455263.2_Missense_Mutation_p.I254S|TP53_ENST00000269305.4_Missense_Mutation_p.I254S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	254	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.I254S(6)|p.L252_I254delLTI(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.T253_I255del(2)|p.I254del(2)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGTGTGATGATGGTGAGGAT	0.587		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)			False	0	False	17:7577520	0	C	7577520	A	C	7577520	3	2	97	1	0	0	0	0	1	0	0	0	16464	333	12	4	529	4	TP53	17	7577520	Missense_Mutation	SNP	A	TCGA-IB-7893-01A-11D-2201-08		7577520	73617690	53	29666											
KRT37	8688	broad.mit.edu	37	chr17	39579066	39579066	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgagggagagctgctcctcCttcagggactcctgctgggc	14	12	1	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:39579066C>A	ENST00000225550.3	-	3	695	c.696G>T	c.(694-696)aaG>aaT	p.K232N	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	232	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCTGCTCCTCCTTCAGGGACT	0.682													False	0	False	17:39579066	0	A	39579066	C	A	39579066	3	1	97	1	0	0	0	0	1	0	0	0	8524	680	24	3	673	3	KRT37	17	39579066	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08	32001546	39579066	41616144	54	29667											
FTSJ3	117246	broad.mit.edu	37	chr17	61902078	61902080	+	In_Frame_Del	DEL	TCT	TCT	-													tagctggatgctgtgccaacTcttcatcatctaccatgatc							TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr17:61902078_61902080delTCT	ENST00000427159.2	-	10	1479_1481	c.834_836delAGA	c.(832-837)gaagag>gag	p.278_279EE>E		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	278				E -> I (in Ref. 1; AAL56015 and 2; BAA90924).	RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CTGTGCCAACTCTTCATCATCTA	0.552													False	1	False	17:61902078	0	-	61902080	TCT	-	61902078	7	5	97	1	0	1	0	1	0	0	0	0	6131	1551	54	0	1755	0	FTSJ3	17	61902078	In_Frame_Del	DEL	TCT	TCGA-IB-7893-01A-11D-2201-08	22323012	61902078	19293132	55	29668											
MED16	10025	broad.mit.edu	37	chr19	879935	879935	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccacgtgccccagcagctcAccttcccgtggctgtcaatc	8	19	2	0			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:879935A>G	ENST00000312090.6	-	8	1504		c.e8+1		MED16_ENST00000325464.1_Splice_Site|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Splice_Site|MED16_ENST00000269814.4_Splice_Site|MED16_ENST00000589119.1_Splice_Site			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16						androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGCTCACCTTCCCGTG	0.667													False	0	False	19:879935	0	G	879935	A	G	879935	5	3	97	1	0	0	0	0	0	0	1	0	9501	173	6	4	1314	4	MED16	19	879935	Splice_Site	SNP	A	TCGA-IB-7893-01A-11D-2201-08		879935	58249048	56	29669											
COPE	11316	broad.mit.edu	37	chr19	19016396	19016396	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggctcaccgggcgaggtcCaggcggtccagcttcagcag	16	13	2	0			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:19016396C>A	ENST00000600932.1	-	6	586	c.555G>T	c.(553-555)ctG>ctT	p.L185L	COPE_ENST00000349893.4_Silent_p.L162L|COPE_ENST00000262812.4_Silent_p.L162L|COPE_ENST00000598969.1_5'UTR|COPE_ENST00000351079.4_Silent_p.L111L			O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	162					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						GGGCGAGGTCCAGGCGGTCCA	0.682													False	0	False	19:19016396	0	A	19016396	C	A	19016396	2	1	97	1	0	0	0	0	0	0	0	1	3753	581	21	3		3	COPE	19	19016396	Silent	SNP	C	TCGA-IB-7893-01A-11D-2201-08	18136461	19016396	40112587	57	29670											
ZNF493	284443	broad.mit.edu	37	chr19	21606442	21606442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaatgtgaagaatgtggCaaagcctttagtattttctc	8	5	1	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:21606442C>T	ENST00000392288.2	+	4	1090	c.981C>T	c.(979-981)ggC>ggT	p.G327G	ZNF493_ENST00000355504.4_Silent_p.G199G|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAGAATGTGGCAAAGCCTTTA	0.333													False	0	True	19:21606442	0	T	21606442	C	T	21606442	2	4	97	1	0	0	0	0	0	0	0	1	18027	697	25	2		2	ZNF493	19	21606442	Silent	SNP	C	TCGA-IB-7893-01A-11D-2201-08	2590046	21606442	37522541	58	29671											
TRPM4	54795	broad.mit.edu	37	chr19	49713525	49713525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaggcgcagcgttaccGcctcatccgggaattccact	11	14	1	0			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr19:49713525G>A	ENST00000252826.5	+	21	3317	c.3191G>A	c.(3190-3192)cGc>cAc	p.R1064H	TRPM4_ENST00000427978.2_Missense_Mutation_p.R919H|TRPM4_ENST00000355712.5_Missense_Mutation_p.R710H	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1064					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CAGCGTTACCGCCTCATCCGG	0.607													False	0	False	19:49713525	0	A	49713525	G	A	49713525	3	1	97	1	0	0	0	0	1	0	0	0	16671	1087	38	1	3273	1	TRPM4	19	49713525	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	28107083	49713525	9415458	59	29672											
SIRPB1	10326	broad.mit.edu	37	chr20	1592049	1592049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacttaaactccacgtgGtcggggctccctttccggaa	10	14	0	1			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:1592049G>A	ENST00000279477.7	-	2	451	c.387C>T	c.(385-387)gaC>gaT	p.D129D	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.D129D|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	129	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ACTCCACGTGGTCGGGGCTCC	0.522													False	0	False	20:1592049	0	A	1592049	G	A	1592049	2	1	97	1	0	0	0	0	0	0	0	1	14414	1252	44	2		2	SIRPB1	20	1592049	Silent	SNP	G	TCGA-IB-7893-01A-11D-2201-08		1592049	61433471	60	29673											
ZHX3	23051	broad.mit.edu	37	chr20	39830760	39830760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctggcctcagggacacGgggctcccacgactcactgt	13	14	2	1	rs148495510		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:39830760G>A	ENST00000309060.3	-	4	3212	c.2797C>T	c.(2797-2799)Cgt>Tgt	p.R933C	ZHX3_ENST00000560361.1_Missense_Mutation_p.R933C|ZHX3_ENST00000540170.1_Missense_Mutation_p.R933C|ZHX3_ENST00000432768.2_Missense_Mutation_p.R933C|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.R933C|ZHX3_ENST00000558993.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	933					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCAGGGACACGGGGCTCCCAC	0.597													False	0	True	20:39830760	0	A	39830760	G	A	39830760	3	1	97	1	0	0	0	0	1	0	0	0	17760	1116	39	1	81	1	ZHX3	20	39830760	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	38238711	39830760	23194760	61	29674											
ZMYND8	23613	broad.mit.edu	37	chr20	45839477	45839477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctggtactggtgttgtgatCggaacgtgtcgatcccctct	13	10	1	1			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr20:45839477C>T	ENST00000311275.7	-	22	3743	c.3490G>A	c.(3490-3492)Gat>Aat	p.D1164N	ZMYND8_ENST00000446994.2_Missense_Mutation_p.D1083N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.D1114N|ZMYND8_ENST00000352431.2_Missense_Mutation_p.D1138N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.D1032N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.D1192N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.D1219N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.D1112N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.D1164N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.D1212N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.D1146N|ZMYND8_ENST00000360911.3_Missense_Mutation_p.D1113N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.D1166N	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1164	Interacts with PRKCB1.						protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GTGTTGTGATCGGAACGTGTC	0.547													False	0	False	20:45839477	0	T	45839477	C	T	45839477	3	4	97	1	0	0	0	0	1	0	0	0	17794	884	31	1	74	1	ZMYND8	20	45839477	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08	6008717	45839477	17186043	62	29675											
CDC45	8318	broad.mit.edu	37	chr22	19492919	19492919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgttggtgtcctgcagCgccacgtttcccgccacaac	10	15	0	1			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:19492919C>T	ENST00000407835.1	+	11	995	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	CDC45_ENST00000404724.3_Missense_Mutation_p.R201C|CDC45_ENST00000437685.2_Missense_Mutation_p.R279C|CDC45_ENST00000263201.1_Missense_Mutation_p.R247C			O75419	CDC45_HUMAN	cell division cycle 45	247					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGTCCTGCAGCGCCACGTTTC	0.537													False	0	False	22:19492919	0	T	19492919	C	T	19492919	3	4	97	1	0	0	0	0	1	0	0	0	3104	768	27	1	877	1	CDC45	22	19492919	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08		19492919	31811647	63	29676											
GGT1	2678	broad.mit.edu	37	chr22	25023539	25023539	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	actgctcacctgtctgtcgtCgcagaggacggcagtgctgt	13	12	2	1			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:25023539C>G	ENST00000400382.1	+	12	1916	c.1161C>G	c.(1159-1161)gtC>gtG	p.V387V	GGT1_ENST00000404920.1_Silent_p.V43V|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Silent_p.V387V|GGT1_ENST00000403838.1_Silent_p.V43V|GGT1_ENST00000400380.1_Silent_p.V387V|GGT1_ENST00000248923.4_Silent_p.V387V|GGT1_ENST00000401885.1_Silent_p.V43V|GGT1_ENST00000406383.2_Silent_p.V387V|GGT1_ENST00000404532.1_Silent_p.V43V|GGT1_ENST00000404223.1_Silent_p.V43V			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	387					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TGTCTGTCGTCGCAGAGGACG	0.657													False	0	False	22:25023539	0	G	25023539	C	G	25023539	2	3	97	1	0	0	0	0	0	0	0	1	6406	871	31	5		5	GGT1	22	25023539	Silent	SNP	C	TCGA-IB-7893-01A-11D-2201-08	5530620	25023539	26281027	64	29677											
MYO18B	84700	broad.mit.edu	37	chr22	26164985	26164985	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcagggcgagttgggggacGatctgagaatgggggagaaa	20	4	1	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:26164985G>T	ENST00000335473.7	+	4	1352	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	MYO18B_ENST00000536101.1_Missense_Mutation_p.D368Y|MYO18B_ENST00000407587.2_Missense_Mutation_p.D368Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	368						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.D368N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTTGGGGGACGATCTGAGAAT	0.552													False	0	False	22:26164985	0	T	26164985	G	T	26164985	3	4	97	1	0	0	0	0	1	0	0	0	10133	1058	37	3	1112	3	MYO18B	22	26164985	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	1141446	26164985	25139581	65	29678											
CYB5R3	1727	broad.mit.edu	37	chr22	43032758	43032758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgggtacttgatgtccGggctctcgagggtgatggct	17	9	1	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chr22:43032758G>A	ENST00000361740.4	-	2	214	c.215C>T	c.(214-216)cCg>cTg	p.P72L	CYB5R3_ENST00000407332.1_Missense_Mutation_p.P16L|CYB5R3_ENST00000396303.3_Missense_Mutation_p.P16L|CYB5R3_ENST00000407623.3_Missense_Mutation_p.P16L|CYB5R3_ENST00000352397.5_Missense_Mutation_p.P39L|CYB5R3_ENST00000402438.1_Missense_Mutation_p.P16L	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	39	FAD-binding FR-type.				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	CTTGATGTCCGGGCTCTCGAG	0.617													False	0	True	22:43032758	0	A	43032758	G	A	43032758	3	1	97	1	0	0	0	0	1	0	0	0	4153	1116	39	1	821	1	CYB5R3	22	43032758	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	16867773	43032758	8271808	66	29679											
UBQLN2	29978	broad.mit.edu	37	chrX	56590932	56590932	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcagctcattatggctaatcCacagatgcagcaattgattc	8	10	1	2			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:56590932C>G	ENST00000338222.5	+	1	907	c.626C>G	c.(625-627)cCa>cGa	p.P209R		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	209						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						ATGGCTAATCCACAGATGCAG	0.463													False	0	False	X:56590932	0	G	56590932	C	G	56590932	3	3	97	1	0	0	0	0	1	0	0	0	16981	594	21	5	628	5	UBQLN2	23	56590932	Missense_Mutation	SNP	C	TCGA-IB-7893-01A-11D-2201-08		56590932	98679628	67	29680											
BHLHB9	80823	broad.mit.edu	37	chrX	102004308	102004308	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttctggaatggagaagagGctggtaatagtttcagcact	14	5	2	2	rs112563174	byFrequency	TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:102004308G>T	ENST00000372735.1	+	4	970	c.385G>T	c.(385-387)Gct>Tct	p.A129S	BHLHB9_ENST00000457056.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A129S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A129S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	129						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGAGAAGAGGCTGGTAATAG	0.512													False	0	False	X:102004308	0	T	102004308	G	T	102004308	3	4	97	1	0	0	0	0	1	0	0	0	1425	1203	42	3	387	3	BHLHB9	23	102004308	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	45413376	102004308	53266252	68	29681											
GUCY2F	2986	broad.mit.edu	37	chrX	108718972	108718972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagggcctttgaaaacagcGaatcacaagcccaagggccc	11	13	1	1			TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:108718972G>A	ENST00000218006.2	-	2	485	c.194C>T	c.(193-195)tCg>tTg	p.S65L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	65					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TGAAAACAGCGAATCACAAGC	0.532											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	X:108718972	0	A	108718972	G	A	108718972	3	1	97	1	0	0	0	0	1	0	0	0	6945	1059	37	1	3204	1	GUCY2F	23	108718972	Missense_Mutation	SNP	G	TCGA-IB-7893-01A-11D-2201-08	6714664	108718972	46551588	69	29682											
GPR50	9248	broad.mit.edu	37	chrX	150349558	150349569	+	In_Frame_Del	DEL	CACCACTGGCCA	CACCACTGGCCA	-													gccaccagccaccctaaaccCaccactggccacatcaagcc					rs113250614		TCGA-IB-7893-01A-11D-2201-08	TCGA-IB-7893-10A-01D-2201-08	CACCACTGGCCA	CACCACTGGCCA	-	-	CACCACTGGCCA	CACCACTGGCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	37ed3200-311b-4a5c-b130-04d290ed784d	38718592-ad6d-44ca-b328-88cff2eeaeec	g.chrX:150349558_150349569delCACCACTGGCCA	ENST00000218316.3	+	2	1572_1583	c.1503_1514delCACCACTGGCCA	c.(1501-1515)cccaccactggccac>ccc	p.TTGH502del		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	502	Pro-rich.		Missing (lower fasting circulating triglyceride levels).		cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.T502_H505delTTGH(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTAAACCCACCACTGGCCACATCAAGCCA	0.608													False	1	False	X:150349558	0	-	150349569	CACCACTGGCCA	-	150349558	7	5	97	1	0	1	0	1	0	0	0	0	6743	581	21	0	1509	0	GPR50	23	150349558	In_Frame_Del	DEL	CACCACTGGCCA	TCGA-IB-7893-01A-11D-2201-08	41630586	150349558	4921002	70	29683											
PUSL1	126789	broad.mit.edu	37	chr1	1244619	1244619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcccgaggtcctggccgagGccctcaacacacacctgcgg	12	18	1	0			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:1244619G>A	ENST00000379031.5	+	3	366	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	PUSL1_ENST00000470520.1_3'UTR	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	97					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGGCCGAGGCCCTCAACAC	0.746													False	0	True	1:1244619	0	A	1244619	G	A	1244619	3	1	98	1	0	0	0	0	1	0	0	0	12914	1203	42	2	299	2	PUSL1	1	1244619	Missense_Mutation	SNP	G	TCGA-IB-7897-01A-21D-2201-08		1244619	248006002	1	29684											
PINK1	65018	broad.mit.edu	37	chr1	20975596	20975596	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgggcttgtcaatcccttcTacggccagggcaaggcccac	11	15	2	0			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:20975596T>G	ENST00000321556.4	+	7	1454	c.1360T>G	c.(1360-1362)Tac>Gac	p.Y454D	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	454	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAATCCCTTCTACGGCCAGGG	0.607													False	0	False	1:20975596	0	G	20975596	T	G	20975596	3	3	98	1	0	0	0	0	1	0	0	0	12001	1522	53	4	1386	4	PINK1	1	20975596	Missense_Mutation	SNP	T	TCGA-IB-7897-01A-21D-2201-08	19730977	20975596	228275025	2	29685											
PHACTR4	65979	broad.mit.edu	37	chr1	28807088	28807088	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaggagtggaatgaaataCggcaccagattggaaacaca	13	6	0	2			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:28807088C>A	ENST00000373839.3	+	9	1993	c.1732C>A	c.(1732-1734)Cgg>Agg	p.R578R	PHACTR4_ENST00000373836.3_Silent_p.R588R|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	578							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	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)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GAATGAAATACGGCACCAGAT	0.428													False	0	False	1:28807088	0	A	28807088	C	A	28807088	2	1	98	1	0	0	0	0	0	0	0	1	11881	527	19	3		3	PHACTR4	1	28807088	Silent	SNP	C	TCGA-IB-7897-01A-21D-2201-08	7831492	28807088	220443533	3	29686											
CYB5RL	606495	broad.mit.edu	37	chr1	54640404	54640404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaatggctttctccgacagCagctgaccagctctttaatt	8	12	2	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:54640404C>T	ENST00000419823.2	-	7	1060	c.836G>A	c.(835-837)tGc>tAc	p.C279Y	CYB5RL_ENST00000534324.1_Missense_Mutation_p.C279Y|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000287899.8_Missense_Mutation_p.C211Y|CYB5RL_ENST00000401046.3_Missense_Mutation_p.C131Y|CYB5RL_ENST00000537208.1_Missense_Mutation_p.C211Y|CYB5RL_ENST00000542737.1_Missense_Mutation_p.C279Y	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	279							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TCTCCGACAGCAGCTGACCAG	0.552													False	0	False	1:54640404	0	T	54640404	C	T	54640404	3	4	98	1	0	0	0	0	1	0	0	0	4155	710	25	2	115	2	CYB5RL	1	54640404	Missense_Mutation	SNP	C	TCGA-IB-7897-01A-21D-2201-08	25833316	54640404	194610217	4	29687											
NBPF16	728936	broad.mit.edu	37	chr1	148753330	148753330	+	Frame_Shift_Del	DEL	T	T	-													tgttattcgactccttcagaTtatcttgaactgcctgactt							TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:148753330delT	ENST00000417839.1	+	12	1537	c.1347delT	c.(1345-1347)gatfs	p.D449fs		NM_001102663.1	NP_001096133.1			neuroblastoma breakpoint family, member 16											breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CTCCTTCAGATTATCTTGAAC	0.493													False	2	False	1:148753330	0	-	148753330	T	-	148753330	7	5	98	1	0	1	0	1	0	0	0	0	10264	1490	52	0	3462	0	NBPF16	1	148753330	Frame_Shift_Del	DEL	T	TCGA-IB-7897-01A-21D-2201-08	94112926	148753330	100497291	5	29688											
ACBD6	84320	broad.mit.edu	37	chr1	180461444	180461444	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctagttttttaactactgcgAtatattcctgcattgcttgg	7	8	0	0			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:180461444A>G	ENST00000367595.3	-	3	1031	c.344T>C	c.(343-345)aTc>aCc	p.I115T		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	115	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						AACTACTGCGATATATTCCTG	0.358													False	0	True	1:180461444	0	G	180461444	A	G	180461444	3	3	98	1	0	0	0	0	1	0	0	0	126	333	12	4	528	4	ACBD6	1	180461444	Missense_Mutation	SNP	A	TCGA-IB-7897-01A-21D-2201-08	31708114	180461444	68789177	6	29689											
SLC35F3	148641	broad.mit.edu	37	chr1	234454518	234454518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgttcaagctcctcctgGgcagtgctaagtttggagaa	11	8	1	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:234454518G>A	ENST00000366618.3	+	6	1121	c.976G>A	c.(976-978)Ggc>Agc	p.G326S	SLC35F3_ENST00000366617.3_Missense_Mutation_p.G257S	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	257					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GCTCCTCCTGGGCAGTGCTAA	0.468													False	0	True	1:234454518	0	A	234454518	G	A	234454518	3	1	98	1	0	0	0	0	1	0	0	0	14670	1232	43	2	998	2	SLC35F3	1	234454518	Missense_Mutation	SNP	G	TCGA-IB-7897-01A-21D-2201-08	53993074	234454518	14796103	7	29690											
GREM2	64388	broad.mit.edu	37	chr1	240656720	240656720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggttcttccgggcttccGccaccttcaccagcaccgcc	9	20	2	0			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr1:240656720G>A	ENST00000318160.4	-	2	322	c.56C>T	c.(55-57)gCg>gTg	p.A19V		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	19					BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CCGGGCTTCCGCCACCTTCAC	0.612													False	0	False	1:240656720	0	A	240656720	G	A	240656720	3	1	98	1	0	0	0	0	1	0	0	0	6809	1087	38	1	454	1	GREM2	1	240656720	Missense_Mutation	SNP	G	TCGA-IB-7897-01A-21D-2201-08	6202202	240656720	8593901	8	29691											
C2orf71	388939	broad.mit.edu	37	chr2	29295748	29295748	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggttccacagagaccccaatCccaaaggaatcacatggggt	10	12	1	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:29295748C>T	ENST00000331664.5	-	1	1379	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	460					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGACCCCAATCCCAAAGGAAT	0.557													False	0	True	2:29295748	0	T	29295748	C	T	29295748	2	4	98	1	0	0	0	0	0	0	0	1	2207	842	30	2		2	C2orf71	2	29295748	Silent	SNP	C	TCGA-IB-7897-01A-21D-2201-08		29295748	213903625	9	29692											
AAK1	22848	broad.mit.edu	37	chr2	69741760	69741765	+	In_Frame_Del	DEL	TGTTGC	TGTTGC	-													gctgttgctgttgctgttgtTgttgctgctgctgctgctgc					rs77547121		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	TGTTGC	TGTTGC	-	-	TGTTGC	TGTTGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:69741760_69741765delTGTTGC	ENST00000409085.4	-	13	1990_1995	c.1614_1619delGCAACA	c.(1612-1620)cagcaacaa>caa	p.538_540QQQ>Q	AAK1_ENST00000409068.1_In_Frame_Del_p.538_540QQQ>Q|AAK1_ENST00000406297.3_In_Frame_Del_p.538_540QQQ>Q	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	538	Gln-rich.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.Q538Q(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ttgctgttgttgttgctgctgctgct	0.544													False	1	True	2:69741760	0	-	69741765	TGTTGC	-	69741760	7	5	98	1	0	1	0	1	0	0	0	0	16	1812	63	0	1306	0	AAK1	2	69741760	In_Frame_Del	DEL	TGTTGC	TCGA-IB-7897-01A-21D-2201-08	40446012	69741760	173457613	10	29693											
WDR33	55339	broad.mit.edu	37	chr2	128477233	128477234	+	Frame_Shift_Ins	INS	-	-	AGAT													accctggttctcccgggggcINSctggaggcccctgcattcct							TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:128477233_128477234insAGAT	ENST00000322313.4	-	16	2523_2524	c.2365_2366insATCT	c.(2365-2367)ggcfs	p.G789fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	789					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTCCCGGGGGCCTGGAGGCCCC	0.604													False	0	False	2:128477233	0	AGAT	128477234	-	AGAT	128477233	7	5	98	1	0	1	1	0	0	0	0	0	17371	739	26	0	1672	0	WDR33	2	128477233	Frame_Shift_Ins	INS	-	TCGA-IB-7897-01A-21D-2201-08	58735473	128477233	114722140	11	29694											
PPIG	9360	broad.mit.edu	37	chr2	170493042	170493043	+	Frame_Shift_Ins	INS	-	-	TTGGGGAAATGTT													aaaaatgaaaaggagaagaaINSagttaaagaccataaatcta							TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr2:170493042_170493043insTTGGGGAAATGTT	ENST00000260970.3	+	14	1494_1495	c.1274_1275insTTGGGGAAATGTT	c.(1273-1278)aaagttfs	p.KV425fs	PPIG_ENST00000409714.3_Frame_Shift_Ins_p.KV410fs|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Frame_Shift_Ins_p.KV425fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	425					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAGGAGAAGAAAGTTAAAGACC	0.322													False	0	True	2:170493042	0	TTGGGGAAATGTT	170493043	-	TTGGGGAAATGTT	170493042	7	5	98	1	0	1	1	0	0	0	0	0	12398	14	1	0	1320	0	PPIG	2	170493042	Frame_Shift_Ins	INS	-	TCGA-IB-7897-01A-21D-2201-08	42015809	170493042	72706331	12	29695											
SCN5A	6331	broad.mit.edu	37	chr3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggtggctctagtgacactgtCataggagggtgggaaggaag	18	5	2	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:38591931C>G	ENST00000413689.1	-	28	6125	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1978H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGACACTGTCATAGGAGGGT	0.602													False	0	False	3:38591931	0	G	38591931	C	G	38591931	3	3	98	1	0	0	0	0	1	0	0	0	14003	826	29	5	122	5	SCN5A	3	38591931	Missense_Mutation	SNP	C	TCGA-IB-7897-01A-21D-2201-08		38591931	159430499	13	29696											
RBM6	10180	broad.mit.edu	37	chr3	50005374	50005374	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaggtagggatgctcctccAtctgacttcaggggccgggg	16	10	2	2			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:50005374A>T	ENST00000443081.1	+	3	1039	c.120A>T	c.(118-120)ccA>ccT	p.P40P	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000266022.4_Silent_p.P172P|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	172					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ATGCTCCTCCATCTGACTTCA	0.468													False	0	False	3:50005374	0	T	50005374	A	T	50005374	2	4	98	1	0	0	0	0	0	0	0	1	13223	204	8	5		5	RBM6	3	50005374	Silent	SNP	A	TCGA-IB-7897-01A-21D-2201-08	11413443	50005374	148017056	14	29697											
FOXL2	668	broad.mit.edu	37	chr3	138665464	138665540	+	Frame_Shift_Del	DEL	GGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	GGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	-													cacccccaccgcccttgcctGggctcggcggcggcccttct					rs111967494		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	GGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	GGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	-	-	GGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	GGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr3:138665464_138665540delGGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	ENST00000330315.3	-	1	442_518	c.25_101delGAGGACGCGGCGGGGGCCCTGCTGGCCCCAGAGACCGGTCGCACAGTCAAGGAGCCAGAAGGGCCGCCGCCGAGCCC	c.(25-102)gaggacgcggcgggggccctgctggccccagagaccggtcgcacagtcaaggagccagaagggccgccgccgagcccafs	p.EDAAGALLAPETGRTVKEPEGPPPSP9fs		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	9					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						GCCCTTGCCTGGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTCGGGCTCGGGG	0.747			Mis		granulosa-cell tumour of the ovary		"Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"						False	1	False	3:138665464	0	-	138665540	GGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	-	138665464	7	5	98	1	0	1	0	1	0	0	0	0	6059	1348	47	0	1033	0	FOXL2	3	138665464	Frame_Shift_Del	DEL	GGGCTCGGCGGCGGCCCTTCTGGCTCCTTGACTGTGCGACCGGTCTCTGGGGCCAGCAGGGCCCCCGCCGCGTCCTC	TCGA-IB-7897-01A-21D-2201-08	88660090	138665464	59356966	15	29698											
HERC6	55008	broad.mit.edu	37	chr4	89349856	89349856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggttaaagatgctctgcGtcaattaagtcaagctgaag	10	8	3	2			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:89349856G>A	ENST00000380265.5	+	15	2135	c.1952G>A	c.(1951-1953)cGt>cAt	p.R651H	HERC6_ENST00000264346.7_Missense_Mutation_p.R687H	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	687					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GATGCTCTGCGTCAATTAAGT	0.388													False	0	False	4:89349856	0	A	89349856	G	A	89349856	3	1	98	1	0	0	0	0	1	0	0	0	7109	1145	40	1	1919	1	HERC6	4	89349856	Missense_Mutation	SNP	G	TCGA-IB-7897-01A-21D-2201-08		89349856	101804420	16	29699											
FGB	2244	broad.mit.edu	37	chr4	155487741	155487741	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttaaataacaatgtggaagCtgtttcccagacctcctctt	7	10	1	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr4:155487741C>A	ENST00000302068.4	+	3	470	c.407C>A	c.(406-408)gCt>gAt	p.A136D	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	136					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AATGTGGAAGCTGTTTCCCAG	0.433													False	0	False	4:155487741	0	A	155487741	C	A	155487741	3	1	98	1	0	0	0	0	1	0	0	0	5871	797	28	3	417	3	FGB	4	155487741	Missense_Mutation	SNP	C	TCGA-IB-7897-01A-21D-2201-08	66137885	155487741	35666535	17	29700											
NIPBL	25836	broad.mit.edu	37	chr5	37044451	37044451	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttaattttattcttatagacGcaaaatgatttcatggttat	5	4	2	2			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr5:37044451G>T	ENST00000282516.8	+	35	6610	c.6111G>T	c.(6109-6111)acG>acT	p.T2037T	NIPBL_ENST00000448238.2_Silent_p.T2037T	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2037					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCTTATAGACGCAAAATGATT	0.358													False	0	False	5:37044451	0	T	37044451	G	T	37044451	2	4	98	1	0	0	0	0	0	0	0	1	10496	1074	38	3		3	NIPBL	5	37044451	Silent	SNP	G	TCGA-IB-7897-01A-21D-2201-08		37044451	143870809	18	29701											
VARS2	57176	broad.mit.edu	37	chr6	30892256	30892256	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cccttcctggctgaagagctCtggcagaggctgccccccag	12	16	1	3			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:30892256C>G	ENST00000321897.5	+	25	3224	c.2592C>G	c.(2590-2592)ctC>ctG	p.L864L	VARS2_ENST00000542001.1_Silent_p.L724L|VARS2_ENST00000416670.2_Silent_p.L864L|VARS2_ENST00000541562.1_Silent_p.L894L|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	864					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CTGAAGAGCTCTGGCAGAGGC	0.706													False	0	False	6:30892256	0	G	30892256	C	G	30892256	2	3	98	1	0	0	0	0	0	0	0	1	17208	900	32	5		5	VARS2	6	30892256	Silent	SNP	C	TCGA-IB-7897-01A-21D-2201-08		30892256	140222811	19	29702											
HLA-DMA	3108	broad.mit.edu	37	chr6	32917503	32917503	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctggaagctgagtccatcGacagctgagacaaaagtagg	13	9	0	2			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:32917503G>A	ENST00000374843.4	-	3	622	c.537C>T	c.(535-537)gtC>gtT	p.V179V	XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Silent_p.V84V|HLA-DMA_ENST00000395303.3_Silent_p.V145V|HLA-DMA_ENST00000464392.1_5'UTR	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	179						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						TGAGTCCATCGACAGCTGAGA	0.473													False	0	False	6:32917503	0	A	32917503	G	A	32917503	2	1	98	1	0	0	0	0	0	0	0	1	7245	1045	37	1		1	HLA-DMA	6	32917503	Silent	SNP	G	TCGA-IB-7897-01A-21D-2201-08	2025247	32917503	138197564	20	29703											
DAAM2	23500	broad.mit.edu	37	chr6	39847105	39847105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcctcccgggggaccccCgactcccccaggtgccccac	9	23	0	0			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:39847105C>T	ENST00000538976.1	+	14	1879	c.1697C>T	c.(1696-1698)cCg>cTg	p.P566L	DAAM2_ENST00000274867.4_Missense_Mutation_p.P566L|DAAM2_ENST00000398904.2_Missense_Mutation_p.P566L	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	566	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGGGGACCCCCGACTCCCCCA	0.672													False	0	True	6:39847105	0	T	39847105	C	T	39847105	3	4	98	1	0	0	0	0	1	0	0	0	4241	652	23	1	1747	1	DAAM2	6	39847105	Missense_Mutation	SNP	C	TCGA-IB-7897-01A-21D-2201-08	6929602	39847105	131267962	21	29704											
FNDC1	84624	broad.mit.edu	37	chr6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-													agcagtcggtctcagccgagGacgacgaggaggaggacgcg							TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65													False	2	False	6:159655079	0	-	159655081	GAC	-	159655079	7	5	98	1	0	1	0	1	0	0	0	0	6008	1174	41	0	3577	0	FNDC1	6	159655079	In_Frame_Del	DEL	GAC	TCGA-IB-7897-01A-21D-2201-08	119807974	159655079	11459988	22	29705											
FOXP2	93986	broad.mit.edu	37	chr7	114298280	114298280	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaatgtgggagccataCgaaggcgacattcagacaaa	11	10	1	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr7:114298280C>T	ENST00000408937.3	+	12	1875	c.1501C>T	c.(1501-1503)Cga>Tga	p.R501*	FOXP2_ENST00000403559.4_Nonsense_Mutation_p.R493*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.R455*|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.R384*|FOXP2_ENST00000393494.2_Nonsense_Mutation_p.R476*|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.R476*	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	476					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GGGAGCCATACGAAGGCGACA	0.507													False	0	False	7:114298280	0	T	114298280	C	T	114298280	4	4	98	1	0	0	0	0	0	1	0	0	6069	528	19	1	1631	1	FOXP2	7	114298280	Nonsense_Mutation	SNP	C	TCGA-IB-7897-01A-21D-2201-08		114298280	44840383	23	29706											
MYOM2	9172	broad.mit.edu	37	chr8	2000419	2000433	+	Splice_Site	DEL	AGAACAGAAGCAGGT	AGAACAGAAGCAGGT	-													gcaggaagatgaggagcaggAgaacagaagcaggtgagcac					rs35022521	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	AGAACAGAAGCAGGT	AGAACAGAAGCAGGT	-	-	AGAACAGAAGCAGGT	AGAACAGAAGCAGGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:2000419_2000433delAGAACAGAAGCAGGT	ENST00000262113.4	+	3	392_404	c.251_263delAGAACAGAAGCAGGT	c.(250-264)gagaacagaagcagg>gg	p.ENRSR84del	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	84					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGGAGCAGGAGAACAGAAGCAGGTGAGCACATGG	0.605													False	1	False	8:2000419	0	-	2000433	AGAACAGAAGCAGGT	-	2000419	8	5	98	1	0	1	0	1	0	0	1	0	10159	304	11	0	257	0	MYOM2	8	2000419	Splice_Site	DEL	AGAACAGAAGCAGGT	TCGA-IB-7897-01A-21D-2201-08		2000419	144363603	24	29707											
LZTS1	11178	broad.mit.edu	37	chr8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-													agctcattctcacagacctcCagctccaggcccttggtgcg					rs148039718	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENST00000381569.1	-	4	1651_1698	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel	p.RTQDLEGALRTKGLEL432del	LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	432					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACAGACCTCCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCTCAGCTCCAGG	0.657													False	1	True	8:20107683	0	-	20107730	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	20107683	7	5	98	1	0	1	0	1	0	0	0	0	9201	581	21	0	453	0	LZTS1	8	20107683	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	TCGA-IB-7897-01A-21D-2201-08	18107264	20107683	126256339	25	29708											
LRP12	29967	broad.mit.edu	37	chr8	105502937	105502937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatcatcactcgtttcGtttttcagtgttacttctaa	5	11	5	0			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:105502937G>A	ENST00000276654.5	-	7	2652	c.2544C>T	c.(2542-2544)aaC>aaT	p.N848N	LRP12_ENST00000424843.2_Silent_p.N829N|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	848					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CACTCGTTTCGTTTTTCAGTG	0.418													False	0	True	8:105502937	0	A	105502937	G	A	105502937	2	1	98	1	0	0	0	0	0	0	0	1	9016	1136	40	1		1	LRP12	8	105502937	Silent	SNP	G	TCGA-IB-7897-01A-21D-2201-08	85395254	105502937	40861085	26	29709											
PLEC	5339	broad.mit.edu	37	chr8	145006714	145006714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctccagggacctgaggcGggccttggaggagttctgtg	17	10	2	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr8:145006714G>A	ENST00000322810.4	-	16	2411	c.2242C>T	c.(2242-2244)Cgc>Tgc	p.R748C	PLEC_ENST00000345136.3_Missense_Mutation_p.R611C|PLEC_ENST00000357649.2_Missense_Mutation_p.R615C|PLEC_ENST00000354589.3_Missense_Mutation_p.R611C|PLEC_ENST00000398774.2_Missense_Mutation_p.R579C|PLEC_ENST00000527096.1_Missense_Mutation_p.R634C|PLEC_ENST00000356346.3_Missense_Mutation_p.R597C|PLEC_ENST00000436759.2_Missense_Mutation_p.R638C|PLEC_ENST00000354958.2_Missense_Mutation_p.R589C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	748	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.R611C(1)|p.R748C(1)|p.R638C(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACCTGAGGCGGGCCTTGGAG	0.657													False	0	True	8:145006714	0	A	145006714	G	A	145006714	3	1	98	1	0	0	0	0	1	0	0	0	12121	1116	39	1	11880	1	PLEC	8	145006714	Missense_Mutation	SNP	G	TCGA-IB-7897-01A-21D-2201-08	39503777	145006714	1357308	27	29710											
ROR2	4920	broad.mit.edu	37	chr9	94486741	94486741	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcccacaggaccacacCgtaggaccagatgtctgagt	10	14	1	2			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:94486741C>T	ENST00000375708.3	-	9	2233	c.2035G>A	c.(2035-2037)Ggt>Agt	p.G679S	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.G539S	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	679	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGACCACACCGTAGGACCAG	0.607													False	0	False	9:94486741	0	T	94486741	C	T	94486741	3	4	98	1	0	0	0	0	1	0	0	0	13606	652	23	1	800	1	ROR2	9	94486741	Missense_Mutation	SNP	C	TCGA-IB-7897-01A-21D-2201-08		94486741	46726690	28	29711											
PTGS1	5742	broad.mit.edu	37	chr9	125148756	125148756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattgtcatcgaggagtaCgtgcagcagctgagtggcta	14	7	1	2			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:125148756C>T	ENST00000362012.2	+	9	1046	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000373698.5_Silent_p.Y238Y|PTGS1_ENST00000540753.1_Silent_p.Y322Y|PTGS1_ENST00000223423.4_Silent_p.Y347Y	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	347					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TCGAGGAGTACGTGCAGCAGC	0.527													False	0	False	9:125148756	0	T	125148756	C	T	125148756	2	4	98	1	0	0	0	0	0	0	0	1	12832	547	19	1		1	PTGS1	9	125148756	Silent	SNP	C	TCGA-IB-7897-01A-21D-2201-08	30662015	125148756	16064675	29	29712											
MAMDC4	158056	broad.mit.edu	37	chr9	139748277	139748296	+	Frame_Shift_Del	DEL	CCCTGTGGCAGAGCACAGGG	CCCTGTGGCAGAGCACAGGG	-													ccatggcgcagagaccctgaCcctgtggcagagcacagggc					rs143877651	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	CCCTGTGGCAGAGCACAGGG	CCCTGTGGCAGAGCACAGGG	-	-	CCCTGTGGCAGAGCACAGGG	CCCTGTGGCAGAGCACAGGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr9:139748277_139748296delCCCTGTGGCAGAGCACAGGG	ENST00000317446.2	+	5	553_572	c.503_522delCCCTGTGGCAGAGCACAGGG	c.(502-522)accctgtggcagagcacagggfs	p.TLWQSTG168fs	MAMDC4_ENST00000445819.1_Frame_Shift_Del_p.TLWQSTG168fs|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2	Q6UXC1	AEGP_HUMAN	MAM domain containing 4	168	MAM 1.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GAGACCCTGACCCTGTGGCAGAGCACAGGGCCCTGGGGCC	0.677													False	1	False	9:139748277	0	-	139748296	CCCTGTGGCAGAGCACAGGG	-	139748277	7	5	98	1	0	1	0	1	0	0	0	0	9271	507	18	0	521	0	MAMDC4	9	139748277	Frame_Shift_Del	DEL	CCCTGTGGCAGAGCACAGGG	TCGA-IB-7897-01A-21D-2201-08	14599521	139748277	1465154	30	29713											
CSTF2T	23283	broad.mit.edu	37	chr10	53457704	53457733	+	In_Frame_Del	DEL	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	-													acctcctccttgtatactgaCtccttgtatgcctgccccct					rs150681820		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	-	-	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:53457704_53457733delCTCCTTGTATGCCTGCCCCCTGCATCCCTC	ENST00000331173.4	-	1	1622_1651	c.1577_1606delGAGGGATGCAGGGGGCAGGCATACAAGGAG	c.(1576-1608)ggagggatgcagggggcaggcatacaaggagtc>gtc	p.GGMQGAGIQG526del	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	526	9 X 5 AA tandem repeats of G-[AT]-G-[MI]- Q.|Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding	p.G532D(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		tgtatactgactccttgtatgcctgccccctgcatccctcctccttgtat	0.561													False	1	True	10:53457704	0	-	53457733	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	-	53457704	7	5	98	1	0	1	0	1	0	0	0	0	4010	565	20	0	248	0	CSTF2T	10	53457704	In_Frame_Del	DEL	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	TCGA-IB-7897-01A-21D-2201-08		53457704	82077043	31	29714											
SLC16A9	220963	broad.mit.edu	37	chr10	61424005	61424005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgaaatcaggccaagcGctaggcctcggcgatcgtca	12	12	2	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:61424005G>A	ENST00000395348.3	-	4	1052	c.416C>T	c.(415-417)gCg>gTg	p.A139V	SLC16A9_ENST00000395347.1_Missense_Mutation_p.A139V	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	139					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGGCCAAGCGCTAGGCCTCG	0.398													False	0	False	10:61424005	0	A	61424005	G	A	61424005	3	1	98	1	0	0	0	0	1	0	0	0	14496	1087	38	1	1125	1	SLC16A9	10	61424005	Missense_Mutation	SNP	G	TCGA-IB-7897-01A-21D-2201-08	7966301	61424005	74110742	32	29715											
NRAP	4892	broad.mit.edu	37	chr10	115374049	115374049	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctcaaatgcctctttgtAtttgtactaaagggaaagag	8	6	2	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr10:115374049A>G	ENST00000369358.4	-	29	3461	c.3217T>C	c.(3217-3219)Tac>Cac	p.Y1073H	NRAP_ENST00000359988.3_Missense_Mutation_p.Y1065H|NRAP_ENST00000369360.3_Missense_Mutation_p.Y1038H|NRAP_ENST00000360478.3_Missense_Mutation_p.Y1030H			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1065						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCCTCTTTGTATTTGTACTAA	0.453													False	0	True	10:115374049	0	G	115374049	A	G	115374049	3	3	98	1	0	0	0	0	1	0	0	0	10706	449	16	4	2055	4	NRAP	10	115374049	Missense_Mutation	SNP	A	TCGA-IB-7897-01A-21D-2201-08	53950044	115374049	20160698	33	29716											
TUB	7275	broad.mit.edu	37	chr11	8123100	8123100	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatggattacaactacccGctgtgtgcactgcaggcctt	9	13	0	0	rs147880022	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:8123100G>A	ENST00000305253.4	+	13	1861	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	TUB_ENST00000534099.1_Silent_p.P491P|TUB_ENST00000299506.2_Silent_p.P485P	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	485					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ACAACTACCCGCTGTGTGCAC	0.582													False	0	True	11:8123100	0	A	8123100	G	A	8123100	2	1	98	1	0	0	0	0	0	0	0	1	16826	1074	38	1		1	TUB	11	8123100	Silent	SNP	G	TCGA-IB-7897-01A-21D-2201-08		8123100	126883416	34	29717											
SPTY2D1	144108	broad.mit.edu	37	chr11	18633969	18633971	+	In_Frame_Del	DEL	TCG	TCG	-													cagagtcgtattcatcatcaTcgtcatcttcctcttcatat					rs11605097	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:18633969_18633971delTCG	ENST00000336349.5	-	4	2011_2013	c.1776_1778delCGA	c.(1774-1779)gacgat>gat	p.592_593DD>D		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	592	Poly-Asp.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTCATCATCATCGTCATCTTCCT	0.365													False	1	True	11:18633969	0	-	18633971	TCG	-	18633969	7	5	98	1	0	1	0	1	0	0	0	0	15208	1435	50	0	291	0	SPTY2D1	11	18633969	In_Frame_Del	DEL	TCG	TCGA-IB-7897-01A-21D-2201-08	10510869	18633969	116372547	35	29718											
OR5D18	219438	broad.mit.edu	37	chr11	55587770	55587772	+	In_Frame_Del	DEL	TTG	TTG	-													tctcacatcttatgcgttcaTtgttgtaaccatcctcaaga							TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	TTG	TTG	-	-	TTG	TTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr11:55587770_55587772delTTG	ENST00000333976.4	+	1	685_687	c.665_667delTTG	c.(664-669)attgtt>att	p.V224del		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TATGCGTTCATTGTTGTAACCAT	0.483													False	2	False	11:55587770	0	-	55587772	TTG	-	55587770	7	5	98	1	0	1	0	1	0	0	0	0	11225	1493	52	0	667	0	OR5D18	11	55587770	In_Frame_Del	DEL	TTG	TCGA-IB-7897-01A-21D-2201-08	36953801	55587770	79418746	36	29719											
AKAP3	10566	broad.mit.edu	37	chr12	4737445	4737445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtatttcaaatttgggggaCtttgtgatgatcccgagact	11	6	1	3			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:4737445C>A	ENST00000545990.2	-	5	1147	c.623G>T	c.(622-624)aGt>aTt	p.S208I	AKAP3_ENST00000228850.1_Missense_Mutation_p.S208I|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	208					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						ATTTGGGGGACTTTGTGATGA	0.488													False	0	True	12:4737445	0	A	4737445	C	A	4737445	3	1	98	1	0	0	0	0	1	0	0	0	452	565	20	3	1946	3	AKAP3	12	4737445	Missense_Mutation	SNP	C	TCGA-IB-7897-01A-21D-2201-08		4737445	129114450	37	29720											
LTBR	4055	broad.mit.edu	37	chr12	6494502	6494502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagtgtacacactgcgaGctactttctgactgcccgcc	9	15	1	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:6494502G>T	ENST00000228918.4	+	4	755	c.429G>T	c.(427-429)gaG>gaT	p.E143D	LTBR_ENST00000539925.1_Missense_Mutation_p.E124D|LTBR_ENST00000543190.1_Missense_Mutation_p.E36D|LTBR_ENST00000541102.1_Missense_Mutation_p.E36D	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	143					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CACACTGCGAGCTACTTTCTG	0.607													False	0	False	12:6494502	0	T	6494502	G	T	6494502	3	4	98	1	0	0	0	0	1	0	0	0	9139	962	34	3	443	3	LTBR	12	6494502	Missense_Mutation	SNP	G	TCGA-IB-7897-01A-21D-2201-08	1757057	6494502	127357393	38	29721											
CHD4	1108	broad.mit.edu	37	chr12	6686950	6686950	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattcctccccaaccgctcaCcttaaaccttcgagctagaa	4	16	1	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:6686950C>T	ENST00000309577.6	-	36	5609		c.e36+1		CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.?(3)		central_nervous_system(2)	2						CAACCGCTCACCTTAAACCTT	0.463													False	0	False	12:6686950	0	T	6686950	C	T	6686950	5	4	98	1	0	0	0	0	0	0	1	0	3350	521	18	2	392	2	CHD4	12	6686950	Splice_Site	SNP	C	TCGA-IB-7897-01A-21D-2201-08	192448	6686950	127164945	39	29722											
CLEC4A	50856	broad.mit.edu	37	chr12	8276535	8276535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgaattcaagtcctcaggcAtcaacacagcctcttctgca	6	13	5	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:8276535A>G	ENST00000229332.5	+	1	308	c.61A>G	c.(61-63)Atc>Gtc	p.I21V	CLEC4A_ENST00000360500.3_Missense_Mutation_p.I21V|CLEC4A_ENST00000345999.3_Missense_Mutation_p.I21V|CLEC4A_ENST00000352620.3_Missense_Mutation_p.I21V	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	21					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		GTCCTCAGGCATCAACACAGC	0.418													False	0	False	12:8276535	0	G	8276535	A	G	8276535	3	3	98	1	0	0	0	0	1	0	0	0	3535	217	8	4	63	4	CLEC4A	12	8276535	Missense_Mutation	SNP	A	TCGA-IB-7897-01A-21D-2201-08	1589585	8276535	125575360	40	29723											
LRP1	4035	broad.mit.edu	37	chr12	57587450	57587450	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acgactgtggggatggctctGacgagatcccttgcaacagt	13	10	1	2			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:57587450G>A	ENST00000243077.3	+	47	8252	c.7786G>A	c.(7786-7788)Gac>Aac	p.D2596N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2596	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGATGGCTCTGACGAGATCCC	0.622													False	0	False	12:57587450	0	A	57587450	G	A	57587450	3	1	98	1	0	0	0	0	1	0	0	0	9013	1290	45	2	7972	2	LRP1	12	57587450	Missense_Mutation	SNP	G	TCGA-IB-7897-01A-21D-2201-08	49310915	57587450	76264445	41	29724											
KNTC1	9735	broad.mit.edu	37	chr12	123019271	123019271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgggtttattattgtagccGaccaatcagtgatattgctt	9	6	1	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr12:123019271G>T	ENST00000333479.7	+	3	367	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	KNTC1_ENST00000450485.2_Missense_Mutation_p.D64Y	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	64					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TATTGTAGCCGACCAATCAGT	0.348													False	0	False	12:123019271	0	T	123019271	G	T	123019271	3	4	98	1	0	0	0	0	1	0	0	0	8478	1058	37	3	196	3	KNTC1	12	123019271	Missense_Mutation	SNP	G	TCGA-IB-7897-01A-21D-2201-08	65431821	123019271	10832624	42	29725											
NALCN	259232	broad.mit.edu	37	chr13	101755619	101755619	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggtctcaggcaccgaagGaccattagaagctgagctcc	12	11	1	3			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr13:101755619G>A	ENST00000251127.6	-	26	3042	c.2961C>T	c.(2959-2961)gtC>gtT	p.V987V		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	987						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACCGAAGGACCATTAGAA	0.443													False	0	False	13:101755619	0	A	101755619	G	A	101755619	2	1	98	1	0	0	0	0	0	0	0	1	10215	1161	41	2		2	NALCN	13	101755619	Silent	SNP	G	TCGA-IB-7897-01A-21D-2201-08		101755619	13414259	43	29726											
DYX1C1	161582	broad.mit.edu	37	chr15	55731755	55731755	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtattcattgctcttcGtgcctcagcttgtttgtgta	9	9	4	0			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr15:55731755G>A	ENST00000321149.3	-	7	1175	c.808C>T	c.(808-810)Cga>Tga	p.R270*	DYX1C1_ENST00000380679.1_Nonsense_Mutation_p.R270*|DYX1C1_ENST00000448430.2_Nonsense_Mutation_p.R270*|DYX1C1_ENST00000348518.3_Nonsense_Mutation_p.R270*|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Nonsense_Mutation_p.R270*	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	270					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		ATTGCTCTTCGTGCCTCAGCT	0.333													False	0	False	15:55731755	0	A	55731755	G	A	55731755	4	1	98	1	0	0	0	0	0	1	0	0	4892	1153	40	1	573	1	DYX1C1	15	55731755	Nonsense_Mutation	SNP	G	TCGA-IB-7897-01A-21D-2201-08		55731755	46799637	44	29727											
KLHDC4	54758	broad.mit.edu	37	chr16	87790046	87790046	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acctccaaaaaggattaactCatctttctcaggatgaaccg	6	11	3	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr16:87790046C>A	ENST00000270583.5	-	3	287	c.229G>T	c.(229-231)Gag>Tag	p.E77*	KLHDC4_ENST00000347925.5_Nonsense_Mutation_p.E77*|KLHDC4_ENST00000353170.5_Intron	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	77										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		AGGATTAACTCATCTTTCTCA	0.438													False	0	False	16:87790046	0	A	87790046	C	A	87790046	4	1	98	1	0	0	0	0	0	1	0	0	8408	835	29	3	1369	3	KLHDC4	16	87790046	Nonsense_Mutation	SNP	C	TCGA-IB-7897-01A-21D-2201-08		87790046	2564707	45	29728											
KRT26	353288	broad.mit.edu	37	chr17	38928255	38928255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagctgcttcttgctccCgatccaacacacacattccc	5	16	1	0			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:38928255C>T	ENST00000335552.4	-	1	159	c.111G>A	c.(109-111)tcG>tcA	p.S37S		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	37	Gly-rich.|Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTCTTGCTCCCGATCCAACAC	0.557													False	0	True	17:38928255	0	T	38928255	C	T	38928255	2	4	98	1	0	0	0	0	0	0	0	1	8513	639	23	1		1	KRT26	17	38928255	Silent	SNP	C	TCGA-IB-7897-01A-21D-2201-08		38928255	42266955	46	29729											
VEZF1	7716	broad.mit.edu	37	chr17	56060697	56060697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctccacggcagagctcaGgaggggcagcaagctgttct	16	11	2	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:56060697G>T	ENST00000584396.1	-	2	152	c.64C>A	c.(64-66)Ctg>Atg	p.L22M	VEZF1_ENST00000581208.1_Missense_Mutation_p.L31M			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	31					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCAGAGCTCAGGAGGGGCAGC	0.498													False	0	False	17:56060697	0	T	56060697	G	T	56060697	3	4	98	1	0	0	0	0	1	0	0	0	17239	991	35	3	1494	3	VEZF1	17	56060697	Missense_Mutation	SNP	G	TCGA-IB-7897-01A-21D-2201-08	17132442	56060697	25134513	47	29730											
RPTOR	57521	broad.mit.edu	37	chr17	78914377	78914377	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaacagccgtgtcaggaggCaggcccagcaagtcattcag	13	11	3	0			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:78914377C>A	ENST00000306801.3	+	25	3363	c.3001C>A	c.(3001-3003)Cag>Aag	p.Q1001K	CTD-2561B21.4_ENST00000576032.1_RNA|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.Q843K	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1001					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGTCAGGAGGCAGGCCCAGCA	0.632													False	0	True	17:78914377	0	A	78914377	C	A	78914377	3	1	98	1	0	0	0	0	1	0	0	0	13744	711	25	3	3099	3	RPTOR	17	78914377	Missense_Mutation	SNP	C	TCGA-IB-7897-01A-21D-2201-08	22853680	78914377	2280833	48	29731											
ASPSCR1	79058	broad.mit.edu	37	chr17	79973120	79973120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcctctccaagcactgGtcagcctccatgccacccag	8	19	2	0			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr17:79973120G>A	ENST00000306729.7	+	13	1620	c.1523G>A	c.(1522-1524)gGt>gAt	p.G508D	ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Intron	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	505							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCAAGCACTGGTCAGCCTCCA	0.627			T	TFE3	alveolar soft part sarcoma								False	0	False	17:79973120	0	A	79973120	G	A	79973120	3	1	98	1	0	0	0	0	1	0	0	0	1063	1276	44	2		2	ASPSCR1	17	79973120	Missense_Mutation	SNP	G	TCGA-IB-7897-01A-21D-2201-08	1058743	79973120	1222090	49	29732											
ANKRD12	23253	broad.mit.edu	37	chr18	9263840	9263850	+	Frame_Shift_Del	DEL	AGGAAGTTGTA	AGGAAGTTGTA	-													taaagagctttttcgacaacAggaagttgtaaggatgaaac							TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	AGGAAGTTGTA	AGGAAGTTGTA	-	-	AGGAAGTTGTA	AGGAAGTTGTA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr18:9263840_9263850delAGGAAGTTGTA	ENST00000383440.2	+	9	5905_5915	c.5648_5658delAGGAAGTTGTA	c.(5647-5658)caggaagttgtafs	p.QEVV1883fs	ANKRD12_ENST00000262126.3_Frame_Shift_Del_p.QEVV1906fs|ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.QEVV1883fs	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1906						nucleus		p.V1908A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTTCGACAACAGGAAGTTGTAAGGATGAAAC	0.284													False	1	False	18:9263840	0	-	9263850	AGGAAGTTGTA	-	9263840	7	5	98	1	0	1	0	1	0	0	0	0	640	188	7	0	5751	0	ANKRD12	18	9263840	Frame_Shift_Del	DEL	AGGAAGTTGTA	TCGA-IB-7897-01A-21D-2201-08		9263840	68813408	50	29733											
SLC14A2	8170	broad.mit.edu	37	chr18	43221254	43221267	+	Frame_Shift_Del	DEL	GGAGGCATGTTCTA	GGAGGCATGTTCTA	-													tcctctcctgcatcgccatcGgaggcatgttctatgccctc					rs143740023		TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	GGAGGCATGTTCTA	GGAGGCATGTTCTA	-	-	GGAGGCATGTTCTA	GGAGGCATGTTCTA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr18:43221254_43221267delGGAGGCATGTTCTA	ENST00000255226.6	+	8	1888_1901	c.1072_1085delGGAGGCATGTTCTA	c.(1072-1086)ggaggcatgttctatfs	p.GGMFY358fs	SLC14A2_ENST00000586448.1_Frame_Shift_Del_p.GGMFY358fs	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	358						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCGCCATCGGAGGCATGTTCTATGCCCTCACC	0.551													False	1	False	18:43221254	0	-	43221267	GGAGGCATGTTCTA	-	43221254	7	5	98	1	0	1	0	1	0	0	0	0	14478	1117	39	0	1098	0	SLC14A2	18	43221254	Frame_Shift_Del	DEL	GGAGGCATGTTCTA	TCGA-IB-7897-01A-21D-2201-08	33957414	43221254	34855994	51	29734											
UQCR11	10975	broad.mit.edu	37	chr19	1605381	1605381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgaccagctcccggtAgcgtgggcccaggaaccggg	15	13	1	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:1605381A>G	ENST00000591899.3	-	1	99	c.28T>C	c.(28-30)Tac>Cac	p.Y10H	UQCR11_ENST00000585937.1_Missense_Mutation_p.Y10H|UQCR11_ENST00000589880.1_Missense_Mutation_p.Y10H|UQCR11_ENST00000585671.1_Missense_Mutation_p.Y10H|UQCR11_ENST00000593029.1_5'UTR	NM_006830.3	NP_006821.1	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit XI	10					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity			breast(1)|lung(2)|ovary(1)|prostate(1)	5						AGCTCCCGGTAGCGTGGGCCC	0.731													False	0	False	19:1605381	0	G	1605381	A	G	1605381	3	3	98	1	0	0	0	0	1	0	0	0	17101	420	15	4	150	4	UQCR11	19	1605381	Missense_Mutation	SNP	A	TCGA-IB-7897-01A-21D-2201-08		1605381	57523602	52	29735											
FEM1A	55527	broad.mit.edu	37	chr19	4793864	4793864	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaagatctggaggcgttcatCgaactgcactgacctgccca	11	12	2	2			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:4793864C>A	ENST00000269856.3	+	1	2137	c.1998C>A	c.(1996-1998)atC>atA	p.I666I	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	666					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGGCGTTCATCGAACTGCACT	0.592													False	0	False	19:4793864	0	A	4793864	C	A	4793864	2	1	98	1	0	0	0	0	0	0	0	1	5849	874	31	3		3	FEM1A	19	4793864	Silent	SNP	C	TCGA-IB-7897-01A-21D-2201-08	3188483	4793864	54335119	53	29736											
MAP1S	55201	broad.mit.edu	37	chr19	17838243	17838243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccacgccctcactacccGcagaggtgggctccccgcac	10	19	1	2			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:17838243G>A	ENST00000324096.4	+	5	2201	c.2050G>A	c.(2050-2052)Gca>Aca	p.A684T	MAP1S_ENST00000544059.2_Missense_Mutation_p.A658T|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	684	Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CTCACTACCCGCAGAGGTGGG	0.711													False	0	True	19:17838243	0	A	17838243	G	A	17838243	3	1	98	1	0	0	0	0	1	0	0	0	9301	1087	38	1	2068	1	MAP1S	19	17838243	Missense_Mutation	SNP	G	TCGA-IB-7897-01A-21D-2201-08	13044379	17838243	41290740	54	29737											
FCGBP	8857	broad.mit.edu	37	chr19	40398010	40398010	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcggagctgggccccagcGgcctgacaggctgccacgta	15	15	0	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:40398010G>A	ENST00000221347.6	-	14	6964	c.6957C>T	c.(6955-6957)gcC>gcT	p.A2319A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2319						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGCCCCAGCGGCCTGACAGG	0.652													False	0	False	19:40398010	0	A	40398010	G	A	40398010	2	1	98	1	0	0	0	0	0	0	0	1	5818	1103	39	1		1	FCGBP	19	40398010	Silent	SNP	G	TCGA-IB-7897-01A-21D-2201-08	22559767	40398010	18730973	55	29738											
TMEM91	641649	broad.mit.edu	37	chr19	41888851	41888861	+	Frame_Shift_Del	DEL	GGGGACTGGGC	GGGGACTGGGC	-													gtctgtgtgtgggacttggaGgggactgggcataaaagaga							TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	GGGGACTGGGC	GGGGACTGGGC	-	-	GGGGACTGGGC	GGGGACTGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:41888851_41888861delGGGGACTGGGC	ENST00000539627.1	+	3	706_716	c.385_395delGGGGACTGGGC	c.(385-396)ggggactgggcafs	p.GDWA129fs	TMEM91_ENST00000604123.1_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000356385.4_Intron|TMEM91_ENST00000544232.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000542945.1_Frame_Shift_Del_p.GDWA129fs|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000392002.2_Intron					transmembrane protein 91											lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGACTTGGAGGGGACTGGGCATAAAAGAGA	0.531													False	1	False	19:41888851	0	-	41888861	GGGGACTGGGC	-	41888851	7	5	98	1	0	1	0	1	0	0	0	0	16302	1015	35	0		0	TMEM91	19	41888851	Frame_Shift_Del	DEL	GGGGACTGGGC	TCGA-IB-7897-01A-21D-2201-08	1490841	41888851	17240132	56	29739											
ZNF880	400713	broad.mit.edu	37	chr19	52888074	52888075	+	Frame_Shift_Ins	INS	-	-	AT													tacaaatgtaatgaatgtggINScaaagcatttagagactgtt							TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:52888074_52888075insAT	ENST00000422689.2	+	4	1256_1257	c.1241_1242insAT	c.(1240-1245)ggcaaafs	p.K415fs		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	415					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AATGAATGTGGCAAAGCATTTA	0.411													False	0	True	19:52888074	0	AT	52888075	-	AT	52888074	7	5	98	1	0	1	1	0	0	0	0	0	18279	1203	42	0	1255	0	ZNF880	19	52888074	Frame_Shift_Ins	INS	-	TCGA-IB-7897-01A-21D-2201-08	10999223	52888074	6240909	57	29740	359	2									
ZNF880	400713	broad.mit.edu	37	chr19	52888076	52888077	+	In_Frame_Ins	INS	-	-	TGAGGTCAGGAGATCGAGACCATCCTGGCT													caaatgtaatgaatgtggcaINSaagcatttagagactgttca							TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:52888076_52888077insTGAGGTCAGGAGATCGAGACCATCCTGGCT	ENST00000422689.2	+	4	1258_1259	c.1243_1244insTGAGGTCAGGAGATCGAGACCATCCTGGCT	c.(1243-1245)aaa>aTGAGGTCAGGAGATCGAGACCATCCTGGCTaa	p.415_415K>MRSGDRDHPG*		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	415					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGAATGTGGCAAAGCATTTAGA	0.411													False	0	True	19:52888076	0	TGAGGTCAGGAGATCGAGACCATCCTGGCT	52888077	-	TGAGGTCAGGAGATCGAGACCATCCTGGCT	52888076	7	5	98	1	0	1	1	0	0	0	0	0	18279	131	5	0	1257	0	ZNF880	19	52888076	In_Frame_Ins	INS	-	TCGA-IB-7897-01A-21D-2201-08	2	52888076	6240907	58	29741	359	2									
ZNF749	388567	broad.mit.edu	37	chr19	57955950	57955950	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacacaagaggattgacatTaggccaaggccttatacatg	9	9	0	2			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr19:57955950T>C	ENST00000334181.4	+	3	1684	c.1434T>C	c.(1432-1434)atT>atC	p.I478I	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGATTGACATTAGGCCAAGGC	0.458													False	0	False	19:57955950	0	C	57955950	T	C	57955950	2	2	98	1	0	0	0	0	0	0	0	1	18213	1742	61	4		4	ZNF749	19	57955950	Silent	SNP	T	TCGA-IB-7897-01A-21D-2201-08	5067874	57955950	1173033	59	29742											
TMPRSS3	64699	broad.mit.edu	37	chr21	43796648	43796648	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccgctgcggccccgtAcctggcagctgtccacgcca	11	20	0	0			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr21:43796648A>T	ENST00000291532.3	-	11	2150		c.e11+1		TMPRSS3_ENST00000398405.1_Splice_Site|TMPRSS3_ENST00000474596.1_Splice_Site|TMPRSS3_ENST00000380399.1_Splice_Site|TMPRSS3_ENST00000433957.2_Splice_Site	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3						cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GCGGCCCCGTACCTGGCAGCT	0.622											OREG0031642	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	False	0	False	21:43796648	0	T	43796648	A	T	43796648	5	4	98	1	0	0	0	0	0	0	1	0	16330	405	14	5	180	5	TMPRSS3	21	43796648	Splice_Site	SNP	A	TCGA-IB-7897-01A-21D-2201-08		43796648	4333247	60	29743											
LRRC3	81543	broad.mit.edu	37	chr21	45877295	45877295	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggaccccatcggcccgggGccctagcgcctgttccggca	13	17	0	0			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr21:45877295G>T	ENST00000291592.4	+	2	1085	c.768G>T	c.(766-768)ggG>ggT	p.G256G		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	256						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCGGCCCGGGGCCCTAGCGCC	0.637													False	0	True	21:45877295	0	T	45877295	G	T	45877295	2	4	98	1	0	0	0	0	0	0	0	1	9046	1190	42	3		3	LRRC3	21	45877295	Silent	SNP	G	TCGA-IB-7897-01A-21D-2201-08	2080647	45877295	2252600	61	29744											
MKL1	57591	broad.mit.edu	37	chr22	40816901	40816901	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggtgctgctgctgctgCtggttgaggatctgcagctg	16	8	1	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chr22:40816901C>G	ENST00000396617.3	-	10	1421	c.831G>C	c.(829-831)caG>caC	p.Q277H	MKL1_ENST00000402042.1_Missense_Mutation_p.Q227H|MKL1_ENST00000407029.1_Missense_Mutation_p.Q277H|MKL1_ENST00000355630.3_Missense_Mutation_p.Q277H	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	277	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGCTGCTGCTGGTTGAGGA	0.657			T	RBM15	acute megakaryocytic leukemia								False	0	True	22:40816901	0	G	40816901	C	G	40816901	3	3	98	1	0	0	0	0	1	0	0	0	9668	796	28	5	1988	5	MKL1	22	40816901	Missense_Mutation	SNP	C	TCGA-IB-7897-01A-21D-2201-08		40816901	10487665	62	29745											
SHROOM4	57477	broad.mit.edu	37	chrX	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-													aatactggggtggcagctccTcttcctcctcctctgcctcc					rs3747282	byFrequency	TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:50350672_50350674delTCT	ENST00000460112.3	-	5	3574_3576	c.3120_3122delAGA	c.(3118-3123)gaagag>gag	p.1040_1041EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													False	1	False	X:50350672	0	-	50350674	TCT	-	50350672	7	5	98	1	0	1	0	1	0	0	0	0	14377	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-IB-7897-01A-21D-2201-08		50350672	104919888	63	29746											
HUWE1	10075	broad.mit.edu	37	chrX	53634624	53634625	+	Frame_Shift_Ins	INS	-	-	ATATA													tcctggcagtggtcatctgtINStgtattgttgctcagaatag							TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:53634624_53634625insATATA	ENST00000342160.3	-	24	2812_2813	c.2355_2356insTATAT	c.(2353-2358)acaacafs	p.T786fs	HUWE1_ENST00000218328.8_Frame_Shift_Ins_p.T786fs|HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.T786fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	786					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGTCATCTGTTGTATTGTTGC	0.411													False	0	False	X:53634624	0	ATATA	53634625	-	ATATA	53634624	7	5	98	1	0	1	1	0	0	0	0	0	7511	1725	60	0	11008	0	HUWE1	23	53634624	Frame_Shift_Ins	INS	-	TCGA-IB-7897-01A-21D-2201-08	3283952	53634624	101635936	64	29747	360	2									
HUWE1	10075	broad.mit.edu	37	chrX	53634626	53634627	+	Frame_Shift_Ins	INS	-	-	TTTT													ctggcagtggtcatctgttgINStattgttgctcagaatagat							TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:53634626_53634627insTTTT	ENST00000342160.3	-	24	2810_2811	c.2353_2354insAAAA	c.(2353-2355)acafs	p.T785fs	HUWE1_ENST00000218328.8_Frame_Shift_Ins_p.T785fs|HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.T785fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	785					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTCATCTGTTGTATTGTTGCTC	0.401													False	1	False	X:53634626	0	TTTT	53634627	-	TTTT	53634626	7	5	98	1	0	1	1	0	0	0	0	0	7511	1377	48	0	11010	0	HUWE1	23	53634626	Frame_Shift_Ins	INS	-	TCGA-IB-7897-01A-21D-2201-08	2	53634626	101635934	65	29748	360	2									
MAGEA3	4102	broad.mit.edu	37	chrX	151935609	151935609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcacccagcaggccatcGtaggagaggcccaggcaggt	14	12	1	1			TCGA-IB-7897-01A-21D-2201-08	TCGA-IB-7897-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c284154-c3c3-4cd9-be15-7299b375fc83	e9687af7-9276-4f39-9f3d-5a96e305026f	g.chrX:151935609G>A	ENST00000393902.3	-	3	1125	c.558C>T	c.(556-558)taC>taT	p.Y186Y	MAGEA3_ENST00000370278.3_Silent_p.Y186Y			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	186	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGCCATCGTAGGAGAGGC	0.572													False	0	False	X:151935609	0	A	151935609	G	A	151935609	2	1	98	1	0	0	0	0	0	0	0	1	9232	1140	40	1		1	MAGEA3	23	151935609	Silent	SNP	G	TCGA-IB-7897-01A-21D-2201-08	98300983	151935609	3334951	66	29749											
CAMTA1	23261	broad.mit.edu	37	chr1	7796575	7796575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccagggctatgccaccCtaatccagaccctcatcaaa	6	17	2	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:7796575C>T	ENST00000303635.7	+	13	3445	c.3238C>T	c.(3238-3240)Cta>Tta	p.L1080L	CAMTA1_ENST00000439411.2_Silent_p.L1080L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1080					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTATGCCACCCTAATCCAGAC	0.607			T	WWTR1	epitheliod hemangioendothelioma								False	0	True	1:7796575	0	T	7796575	C	T	7796575	2	4	99	1	0	0	0	0	0	0	0	1	2633	680	24	2		2	CAMTA1	1	7796575	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08		7796575	241454046	1	29750											
VPS13D	55187	broad.mit.edu	37	chr1	12423195	12423195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtgttccactggcctcGgaatgactatgatcagctat	11	9	1	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:12423195G>A	ENST00000358136.3	+	52	10470	c.10340G>A	c.(10339-10341)cGg>cAg	p.R3447Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3422Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3446					protein localization			p.R3447Q(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACTGGCCTCGGAATGACTAT	0.453													False	0	False	1:12423195	0	A	12423195	G	A	12423195	3	1	99	1	0	0	0	0	1	0	0	0	17276	1116	39	1	10542	1	VPS13D	1	12423195	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	4626620	12423195	236827426	2	29751											
EPB41	2035	broad.mit.edu	37	chr1	29314163	29314163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgaccaagaacaaggagCggacatcagaaagcagagga	12	8	1	4			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:29314163C>T	ENST00000343067.4	+	2	341	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	EPB41_ENST00000347529.3_Missense_Mutation_p.R72W|EPB41_ENST00000373798.1_Missense_Mutation_p.R72W|EPB41_ENST00000373797.1_Missense_Mutation_p.R72W|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.R72W|EPB41_ENST00000356093.2_Missense_Mutation_p.R72W	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	72					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAACAAGGAGCGGACATCAGA	0.453													False	0	False	1:29314163	0	T	29314163	C	T	29314163	3	4	99	1	0	0	0	0	1	0	0	0	5183	759	27	1	216	1	EPB41	1	29314163	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	16890968	29314163	219936458	3	29752											
PPT1	5538	broad.mit.edu	37	chr1	40539758	40539758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggaatggtatgatgtggGcataaaaccattcttcagac	10	7	2	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:40539758G>A	ENST00000433473.3	-	9	1360	c.896C>T	c.(895-897)gCc>gTc	p.A299V	PPT1_ENST00000449045.2_Missense_Mutation_p.A196V|PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000530076.1_Missense_Mutation_p.A80V	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	299					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TATGATGTGGGCATAAAACCA	0.483													False	0	True	1:40539758	0	A	40539758	G	A	40539758	3	1	99	1	0	0	0	0	1	0	0	0	12485	1203	42	2	28	2	PPT1	1	40539758	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	11225595	40539758	208710863	4	29753											
TNN	63923	broad.mit.edu	37	chr1	175086325	175086325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagagcaagaaggctgaCaccaaggcccagacaggtaa	13	10	0	4			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:175086325C>T	ENST00000239462.4	+	10	2483	c.2370C>T	c.(2368-2370)gaC>gaT	p.D790D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	790	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAAGGCTGACACCAAGGCCC	0.537													False	0	False	1:175086325	0	T	175086325	C	T	175086325	2	4	99	1	0	0	0	0	0	0	0	1	16405	477	17	2		2	TNN	1	175086325	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	134546567	175086325	74164296	5	29754											
HMCN1	83872	broad.mit.edu	37	chr1	185931765	185931765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattgcctggaccgttaaCgatatgtttatcgtgggttc	11	7	0	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:185931765C>T	ENST00000271588.4	+	12	2173	c.1944C>T	c.(1942-1944)aaC>aaT	p.N648N	HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	648	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGACCGTTAACGATATGTTTA	0.413													False	0	False	1:185931765	0	T	185931765	C	T	185931765	2	4	99	1	0	0	0	0	0	0	0	1	7267	535	19	1		1	HMCN1	1	185931765	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	10845440	185931765	63318856	6	29755											
SNAP47	116841	broad.mit.edu	37	chr1	227968309	227968309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccctggatggcgttgcaGcagctgtggacagggcaacc	15	11	0	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:227968309G>A	ENST00000366759.4	+	5	1744	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	SNAP47_ENST00000366760.1_Missense_Mutation_p.A202T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	444	t-SNARE coiled-coil homology 2.					endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGCGTTGCAGCAGCTGTGGA	0.597													False	0	False	1:227968309	0	A	227968309	G	A	227968309	3	1	99	1	0	0	0	0	1	0	0	0	14912	971	34	2	1348	2	SNAP47	1	227968309	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	42036544	227968309	21282312	7	29756											
ALK	238	broad.mit.edu	37	chr2	30143012	30143012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatccaccaactgaacagctCgctgagattgaactggagca	9	11	0	3			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:30143012C>T	ENST00000389048.3	-	1	1420	c.514G>A	c.(514-516)Gag>Aag	p.E172K	ALK_ENST00000431873.1_Missense_Mutation_p.E172K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	172					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CTGAACAGCTCGCTGAGATTG	0.647			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				False	0	False	2:30143012	0	T	30143012	C	T	30143012	3	4	99	1	0	0	0	0	1	0	0	0	525	893	31	1	4464	1	ALK	2	30143012	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08		30143012	213056361	8	29757											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	99	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-IB-8126-01A-11D-2396-08	67704353	97847365	145352008	9	29758											
MFSD9	84804	broad.mit.edu	37	chr2	103335481	103335481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggttcttcatgttccGcaaggccaacactacttcga	8	13	2	0	rs144200432	by1000genomes	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:103335481G>A	ENST00000258436.5	-	6	866	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	275					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TTCATGTTCCGCAAGGCCAAC	0.557													False	0	False	2:103335481	0	A	103335481	G	A	103335481	3	1	99	1	0	0	0	0	1	0	0	0	9606	1086	38	1	605	1	MFSD9	2	103335481	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	5488116	103335481	139863892	10	29759											
FIGN	55137	broad.mit.edu	37	chr2	164466495	164466495	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcagccgaagttagtAcagtgtccagttgcatcaga	11	10	2	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:164466495A>G	ENST00000333129.3	-	3	2161	c.1847T>C	c.(1846-1848)gTa>gCa	p.V616A	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	616						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGAAGTTAGTACAGTGTCCAG	0.423													False	0	False	2:164466495	0	G	164466495	A	G	164466495	3	3	99	1	0	0	0	0	1	0	0	0	5931	391	14	4	436	4	FIGN	2	164466495	Missense_Mutation	SNP	A	TCGA-IB-8126-01A-11D-2396-08	61131014	164466495	78732878	11	29760											
WDFY1	57590	broad.mit.edu	37	chr2	224758990	224758990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttccacactgcaattccGccgtccgaggaacaggagac	10	13	0	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:224758990G>A	ENST00000233055.4	-	8	894	c.792C>T	c.(790-792)ggC>ggT	p.G264G		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	264						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CTGCAATTCCGCCGTCCGAGG	0.557													False	0	False	2:224758990	0	A	224758990	G	A	224758990	2	1	99	1	0	0	0	0	0	0	0	1	17352	1074	38	1		1	WDFY1	2	224758990	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	60292495	224758990	18440383	12	29761											
THRB	7068	broad.mit.edu	37	chr3	24231773	24231773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcctactagcttccagtcGtgttctcggtctggacagtg	10	11	2	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:24231773G>A	ENST00000396671.2	-	5	423	c.75C>T	c.(73-75)caC>caT	p.H25H	THRB_ENST00000356447.4_Silent_p.H25H|THRB_ENST00000416420.1_Silent_p.H25H	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	25	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCTTCCAGTCGTGTTCTCGGT	0.493													False	0	False	3:24231773	0	A	24231773	G	A	24231773	2	1	99	1	0	0	0	0	0	0	0	1	15957	1136	40	1		1	THRB	3	24231773	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08		24231773	173790657	13	29762											
ATG3	64422	broad.mit.edu	37	chr3	112267472	112267472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatattccatctgtttgcacCgcttatagcacggcactata	6	11	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:112267472C>T	ENST00000402314.2	-	5	638	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000283290.5_Missense_Mutation_p.R84Q	NM_001278712.1	NP_001265641.1	Q9NT62	ATG3_HUMAN	autophagy related 3	84					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CTGTTTGCACCGCTTATAGCA	0.378													False	0	False	3:112267472	0	T	112267472	C	T	112267472	3	4	99	1	0	0	0	0	1	0	0	0	1099	652	23	1	725	1	ATG3	3	112267472	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	88035699	112267472	85754958	14	29763											
ARHGAP31	57514	broad.mit.edu	37	chr3	119128441	119128441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtcccaggagccaggcGcccacctggaggagaagaaa	14	13	0	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:119128441G>A	ENST00000264245.4	+	11	2276	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	582					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAGCCAGGCGCCCACCTGGA	0.542													False	0	True	3:119128441	0	A	119128441	G	A	119128441	3	1	99	1	0	0	0	0	1	0	0	0	882	1087	38	1	1786	1	ARHGAP31	3	119128441	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	6860969	119128441	78893989	15	29764											
COL6A6	131873	broad.mit.edu	37	chr3	130284081	130284081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatacagaacctttctccccGaactgggaaggcctatactg	8	12	1	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:130284081G>A	ENST00000358511.6	+	3	936	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R302Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	302	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTTTCTCCCCGAACTGGGAAG	0.478													False	0	True	3:130284081	0	A	130284081	G	A	130284081	3	1	99	1	0	0	0	0	1	0	0	0	3726	1058	37	1	915	1	COL6A6	3	130284081	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	11155640	130284081	67738349	16	29765											
LRRIQ4	344657	broad.mit.edu	37	chr3	169539979	169539979	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagcctgtgcccggcgctGgggctgctgagcagcctgga	18	12	0	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:169539979G>T	ENST00000340806.6	+	1	270	c.270G>T	c.(268-270)ctG>ctT	p.L90L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	90										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCCCGGCGCTGGGGCTGCTGA	0.567													False	0	True	3:169539979	0	T	169539979	G	T	169539979	2	4	99	1	0	0	0	0	0	0	0	1	9093	1335	47	3		3	LRRIQ4	3	169539979	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	39255898	169539979	28482451	17	29766											
SHROOM3	57619	broad.mit.edu	37	chr4	77661903	77661903	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagttggaagaggcttcCcggcagccctgcggtcagca	14	12	1	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:77661903C>G	ENST00000296043.6	+	5	3530	c.2577C>G	c.(2575-2577)tcC>tcG	p.S859S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	859					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AAGAGGCTTCCCGGCAGCCCT	0.632													False	0	True	4:77661903	0	G	77661903	C	G	77661903	2	3	99	1	0	0	0	0	0	0	0	1	14376	610	22	5		5	SHROOM3	4	77661903	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08		77661903	113492373	18	29767											
TET2	54790	broad.mit.edu	37	chr4	106157130	106157130	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctcatgtgcagtcactgtgTggcactagatttcattttca	9	9	4	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:106157130T>A	ENST00000513237.1	+	3	2891	c.2094T>A	c.(2092-2094)tgT>tgA	p.C698*	TET2_ENST00000540549.1_Nonsense_Mutation_p.C677*|TET2_ENST00000380013.4_Nonsense_Mutation_p.C677*|TET2_ENST00000394764.1_Nonsense_Mutation_p.C677*|TET2_ENST00000413648.2_Nonsense_Mutation_p.C677*|TET2_ENST00000305737.2_Nonsense_Mutation_p.C677*|TET2_ENST00000545826.1_Nonsense_Mutation_p.C677*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	677	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGTCACTGTGTGGCACTAGAT	0.438			"Mis N, F"		MDS								False	0	True	4:106157130	0	A	106157130	T	A	106157130	4	1	99	1	0	0	0	0	0	1	0	0	15852	1702	59	5	2033	5	TET2	4	106157130	Nonsense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	28495227	106157130	84997146	19	29768											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	99	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-IB-8126-01A-11D-2396-08		78610444	102304816	20	29769											
SPOCK1	6695	broad.mit.edu	37	chr5	136403476	136403476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccatcacagagggtggCgaggcttttgccagtagaac	15	10	1	2	rs139465331	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:136403476C>T	ENST00000394945.1	-	6	686	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	SPOCK1_ENST00000282223.7_Missense_Mutation_p.A173T	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	173	Kazal-like.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGAGGGTGGCGAGGCTTTTG	0.527													False	0	False	5:136403476	0	T	136403476	C	T	136403476	3	4	99	1	0	0	0	0	1	0	0	0	15161	768	27	1	826	1	SPOCK1	5	136403476	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	57793032	136403476	44511784	21	29770											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	99	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-8126-01A-11D-2396-08		7393450	163721617	22	29771											
FILIP1	27145	broad.mit.edu	37	chr6	76022448	76022448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgactttgaggattgtccGtcccatgggcatttcctggg	14	9	0	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:76022448G>A	ENST00000393004.2	-	5	3321	c.3100C>T	c.(3100-3102)Cgg>Tgg	p.R1034W	FILIP1_ENST00000237172.7_Missense_Mutation_p.R1034W|FILIP1_ENST00000370020.1_Missense_Mutation_p.R935W|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1034										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGGATTGTCCGTCCCATGGGC	0.468													False	0	True	6:76022448	0	A	76022448	G	A	76022448	3	1	99	1	0	0	0	0	1	0	0	0	5934	1144	40	1	549	1	FILIP1	6	76022448	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	68628998	76022448	95092619	23	29772											
SYNE1	23345	broad.mit.edu	37	chr6	152777116	152777116	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacaaacttttgaacacTttgactgcctttctcaataa	5	10	2	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:152777116T>G	ENST00000367255.5	-	23	3233	c.2632A>C	c.(2632-2634)Agt>Cgt	p.S878R	SYNE1_ENST00000495090.2_Missense_Mutation_p.S445R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S878R|SYNE1_ENST00000367253.4_Missense_Mutation_p.S878R|SYNE1_ENST00000413186.2_Missense_Mutation_p.S878R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S930R|SYNE1_ENST00000367248.3_Missense_Mutation_p.S868R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S885R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S885R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	878					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTGAACACTTTGACTGCCT	0.363										HNSCC(10;0.0054)			False	0	True	6:152777116	0	G	152777116	T	G	152777116	3	3	99	1	0	0	0	0	1	0	0	0	15527	1609	56	4	24330	4	SYNE1	6	152777116	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	76754668	152777116	18337951	24	29773											
POLM	27434	broad.mit.edu	37	chr7	44112788	44112788	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggccttggcggggaggggTgaaggtgggggtcagggggc	25	6	1	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:44112788T>G	ENST00000395831.3	-	9	1446	c.1400A>C	c.(1399-1401)cAc>cCc	p.H467P	POLM_ENST00000335195.6_3'UTR|POLM_ENST00000242248.5_3'UTR	NM_001284330.1	NP_001271259.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	0					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CGGGGAGGGGTGAAGGTGGGG	0.632								DNA polymerases (catalytic subunits)					False	0	True	7:44112788	0	G	44112788	T	G	44112788	3	3	99	1	0	0	0	0	1	0	0	0	12275	1711	59	4		4	POLM	7	44112788	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08		44112788	115025875	25	29774											
SEPT14	346288	broad.mit.edu	37	chr7	55872990	55872990	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatgttgcttctttctccttGactcgctgcataaatctctg	6	11	3	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:55872990G>A	ENST00000388975.3	-	9	1196	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	360					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTTCTCCTTGACTCGCTGCA	0.343													False	0	False	7:55872990	0	A	55872990	G	A	55872990	2	1	99	1	0	0	0	0	0	0	0	1	14144	1277	45	2		2	SEPT14	7	55872990	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	11760202	55872990	103265673	26	29775											
TPK1	27010	broad.mit.edu	37	chr7	144380019	144380019	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctttctctctctccttcGgtgatatcatataagcggtt	6	11	3	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:144380019G>T	ENST00000538212.2	-	2	102	c.32C>A	c.(31-33)cCg>cAg	p.P11Q	TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Silent_p.T56T|TPK1_ENST00000360057.3_Silent_p.T56T			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	0					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCTCTCCTTCGGTGATATCAT	0.388													False	0	False	7:144380019	0	T	144380019	G	T	144380019	3	4	99	1	0	0	0	0	1	0	0	0	16487	1103	39	3	587	3	TPK1	7	144380019	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	88507029	144380019	14758644	27	29776											
XKR4	114786	broad.mit.edu	37	chr8	56436505	56436505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaccgcagtgttgtcagcGaccgcgatcagaaattcgca	10	12	2	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:56436505G>A	ENST00000327381.6	+	3	1772	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGTTGTCAGCGACCGCGATCA	0.587													False	0	False	8:56436505	0	A	56436505	G	A	56436505	3	1	99	1	0	0	0	0	1	0	0	0	17517	1058	37	1	1682	1	XKR4	8	56436505	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08		56436505	89927517	28	29777											
BAI1	575	broad.mit.edu	37	chr8	143603440	143603440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgggccacctccggaacCgcctcatccgcaagcgcttc	10	18	1	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:143603440C>T	ENST00000517894.1	+	21	4033	c.3139C>T	c.(3139-3141)Cgc>Tgc	p.R1047C	BAI1_ENST00000323289.5_Missense_Mutation_p.R1047C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1047					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTCCGGAACCGCCTCATCCG	0.657													False	0	False	8:143603440	0	T	143603440	C	T	143603440	3	4	99	1	0	0	0	0	1	0	0	0	1302	652	23	1	3217	1	BAI1	8	143603440	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	87166935	143603440	2760582	29	29778											
KIAA1045	23349	broad.mit.edu	37	chr9	34971580	34971580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagcctgaggagtttgacagGacaagtcgattcacaccccc	11	12	1	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:34971580G>T	ENST00000242315.3	+	2	367	c.285G>T	c.(283-285)agG>agT	p.R95S	KIAA1045_ENST00000544237.1_Missense_Mutation_p.R95S|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	95							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGTTTGACAGGACAAGTCGAT	0.622													False	0	False	9:34971580	0	T	34971580	G	T	34971580	3	4	99	1	0	0	0	0	1	0	0	0	8257	1165	41	3	287	3	KIAA1045	9	34971580	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08		34971580	106241851	30	29779											
TLN1	7094	broad.mit.edu	37	chr9	35714370	35714371	+	Splice_Site	INS	-	-	AATCCCGAC													gccaccatcttcccacctggINSctgttggggaataggcaggt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:35714370_35714371insAATCCCGAC	ENST00000314888.9	-	24	3339	c.2986_2986insGTCGGGATT	c.(2986-2988)cca>GTCGGGATTcca	p.995_996insVGI	TLN1_ENST00000540444.1_Splice_Site_p.995_996insVGI	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	995					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCCCACCTGGCTGTTGGGGAA	0.574													False	0	False	9:35714370	0	AATCCCGAC	35714371	-	AATCCCGAC	35714370	8	5	99	1	0	1	1	0	0	0	1	0	16029	1217	42	0	4775	0	TLN1	9	35714370	Splice_Site	INS	-	TCGA-IB-8126-01A-11D-2396-08	742790	35714370	105499061	31	29780	361	2									
TLN1	7094	broad.mit.edu	37	chr9	35714372	35714373	+	Splice_Site	INS	-	-	CCGGGCACACCCA													caccatcttcccacctggctINSgttggggaataggcaggtgg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:35714372_35714373insCCGGGCACACCCA	ENST00000314888.9	-	24	3339		c.e24-2		TLN1_ENST00000540444.1_Splice_Site	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCACCTGGCTGTTGGGGAATA	0.569													False	0	False	9:35714372	0	CCGGGCACACCCA	35714373	-	CCGGGCACACCCA	35714372	8	5	99	1	0	1	1	0	0	0	1	0	16029	1594	55	0	4777	0	TLN1	9	35714372	Splice_Site	INS	-	TCGA-IB-8126-01A-11D-2396-08	2	35714372	105499059	32	29781	361	2									
TRPM3	80036	broad.mit.edu	37	chr9	73151119	73151119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggaacagtgatgttgTtggacagggttctctctgag	14	6	3	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:73151119T>C	ENST00000377110.3	-	25	5117	c.4874A>G	c.(4873-4875)aAc>aGc	p.N1625S	TRPM3_ENST00000396285.1_Missense_Mutation_p.N1484S|TRPM3_ENST00000377105.1_Missense_Mutation_p.N1484S|TRPM3_ENST00000423814.3_Missense_Mutation_p.N1652S|TRPM3_ENST00000360823.2_Missense_Mutation_p.N1487S|TRPM3_ENST00000396292.4_Missense_Mutation_p.N1497S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.N1487S|TRPM3_ENST00000396280.5_Missense_Mutation_p.N1474S|TRPM3_ENST00000408909.2_Missense_Mutation_p.N1484S|TRPM3_ENST00000377106.1_Missense_Mutation_p.N1497S|TRPM3_ENST00000357533.2_Missense_Mutation_p.N1629S			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGTGATGTTGTTGGACAGGGT	0.552													False	0	False	9:73151119	0	C	73151119	T	C	73151119	3	2	99	1	0	0	0	0	1	0	0	0	16670	1725	60	4	253	4	TRPM3	9	73151119	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	37436747	73151119	68062312	33	29782											
CELF2	10659	broad.mit.edu	37	chr10	11363283	11363283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacagtacgcagccgccGcgctgcccactctgtacagc	9	17	2	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:11363283G>A	ENST00000379261.4	+	11	1281	c.1189G>A	c.(1189-1191)Gcg>Acg	p.A397T	CELF2_ENST00000315874.4_Missense_Mutation_p.A379T|CELF2_ENST00000399850.3_Missense_Mutation_p.A379T|CELF2_ENST00000416382.2_Missense_Mutation_p.A397T|CELF2_ENST00000609692.1_Missense_Mutation_p.A377T|CELF2_ENST00000354440.2_Missense_Mutation_p.A379T|CELF2_ENST00000450189.1_Missense_Mutation_p.A410T|CELF2_ENST00000537122.1_Missense_Mutation_p.A292T|CELF2_ENST00000417956.2_Missense_Mutation_p.A377T|CELF2_ENST00000427450.1_Missense_Mutation_p.A379T|CELF2_ENST00000542579.1_Missense_Mutation_p.A410T|CELF2_ENST00000608830.1_Missense_Mutation_p.A377T|CELF2_ENST00000354897.3_Missense_Mutation_p.A391T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	397	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CGCAGCCGCCGCGCTGCCCAC	0.657													False	0	False	10:11363283	0	A	11363283	G	A	11363283	3	1	99	1	0	0	0	0	1	0	0	0	3239	1087	38	1	1339	1	CELF2	10	11363283	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08		11363283	124171464	34	29783											
CHAT	1103	broad.mit.edu	37	chr10	50827783	50827783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccaggggctgcccaaaCtgcccgtgcccccgctgcag	11	18	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:50827783C>T	ENST00000395562.2	+	4	623	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L	CHAT_ENST00000339797.1_Silent_p.L16L|CHAT_ENST00000455728.2_Silent_p.L16L|CHAT_ENST00000395559.2_Silent_p.L16L|CHAT_ENST00000351556.3_Silent_p.L16L|CHAT_ENST00000337653.2_Silent_p.L134L|CHAT_ENST00000460699.1_3'UTR	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	134					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCTGCCCAAACTGCCCGTGCC	0.577													False	0	True	10:50827783	0	T	50827783	C	T	50827783	2	4	99	1	0	0	0	0	0	0	0	1	3336	564	20	2		2	CHAT	10	50827783	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	39464500	50827783	84706964	35	29784											
KNDC1	85442	broad.mit.edu	37	chr10	134997481	134997481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctccatcgagtccttcGgagcgctgcagggtgagttc	12	13	1	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:134997481G>A	ENST00000304613.3	+	5	634	c.613G>A	c.(613-615)Gga>Aga	p.G205R	KNDC1_ENST00000368572.2_Missense_Mutation_p.G205R|KNDC1_ENST00000368571.2_Missense_Mutation_p.G140R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	205	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGAGTCCTTCGGAGCGCTGCA	0.582													False	0	False	10:134997481	0	A	134997481	G	A	134997481	3	1	99	1	0	0	0	0	1	0	0	0	8476	1117	39	1	631	1	KNDC1	10	134997481	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	84169698	134997481	537266	36	29785											
DENND5A	23258	broad.mit.edu	37	chr11	9225319	9225319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggaaagtcaaataggggAagctcattggtacttggtct	12	6	3	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:9225319A>G	ENST00000328194.3	-	4	1157	c.837T>C	c.(835-837)ctT>ctC	p.L279L	DENND5A_ENST00000530044.1_Silent_p.L279L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	279	DENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAAATAGGGGAAGCTCATTGG	0.498													False	0	True	11:9225319	0	G	9225319	A	G	9225319	2	3	99	1	0	0	0	0	0	0	0	1	4466	233	9	4		4	DENND5A	11	9225319	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08		9225319	125781197	37	29786											
OR5D18	219438	broad.mit.edu	37	chr11	55587727	55587727	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctttcttgccacctttaatGaaatcagcacactactcatc	3	13	4	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:55587727G>T	ENST00000333976.4	+	1	642	c.622G>T	c.(622-624)Gaa>Taa	p.E208*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CACCTTTAATGAAATCAGCAC	0.448													False	0	True	11:55587727	0	T	55587727	G	T	55587727	4	4	99	1	0	0	0	0	0	1	0	0	11225	1291	45	3	624	3	OR5D18	11	55587727	Nonsense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	46362408	55587727	79418789	38	29787											
ARAP1	116985	broad.mit.edu	37	chr11	72422096	72422096	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggaaggcaaaggttcGgttgtttgtgatcacttcaa	12	8	2	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:72422096G>A	ENST00000359373.5	-	9	2034	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	ARAP1_ENST00000426523.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.R395*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.R150*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.R155*|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.R395*			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	395	PH 1.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCAAAGGTTCGGTTGTTTGTG	0.547													False	0	False	11:72422096	0	A	72422096	G	A	72422096	4	1	99	1	0	0	0	0	0	1	0	0	840	1124	39	1	3277	1	ARAP1	11	72422096	Nonsense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	16834369	72422096	62584420	39	29788											
C3AR1	719	broad.mit.edu	37	chr12	8211546	8211546	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgatcccaggacatcagAgttttccccaagggagtttc	9	11	1	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:8211546A>C	ENST00000307637.4	-	2	1439	c.1236T>G	c.(1234-1236)acT>acG	p.T412T		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	412					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGACATCAGAGTTTTCCCCA	0.468													False	0	False	12:8211546	0	C	8211546	A	C	8211546	2	2	99	1	0	0	0	0	0	0	0	1	2221	291	11	4		4	C3AR1	12	8211546	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08		8211546	125640349	40	29789											
PRB3	5544	broad.mit.edu	37	chr12	11420929	11420929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccttgggactggtttcctCcttgtgggggtggtccttct	14	10	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:11420929C>T	ENST00000279573.7	-	3	389	c.254G>A	c.(253-255)gGa>gAa	p.G85E	PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000381842.3_Missense_Mutation_p.G85E|PRB3_ENST00000538488.1_Missense_Mutation_p.G85E			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3		10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.632													False	0	False	12:11420929	0	T	11420929	C	T	11420929	3	4	99	1	0	0	0	0	1	0	0	0	12520	855	30	2	683	2	PRB3	12	11420929	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	3209383	11420929	122430966	41	29790											
CAPZA3	93661	broad.mit.edu	37	chr12	18891852	18891852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcttggaaatagttaAccaagctcaactggctctaa	8	8	2	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:18891852A>G	ENST00000317658.3	+	1	808	c.650A>G	c.(649-651)aAc>aGc	p.N217S		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	217					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GAAATAGTTAACCAAGCTCAA	0.398													False	0	False	12:18891852	0	G	18891852	A	G	18891852	3	3	99	1	0	0	0	0	1	0	0	0	2662	43	2	4	652	4	CAPZA3	12	18891852	Missense_Mutation	SNP	A	TCGA-IB-8126-01A-11D-2396-08	7470923	18891852	114960043	42	29791											
DIP2B	57609	broad.mit.edu	37	chr12	51065103	51065103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgtccacttcttcatccGcatcttctacgctgtcccac	5	17	4	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:51065103G>A	ENST00000301180.5	+	5	596	c.562G>A	c.(562-564)Gca>Aca	p.A188T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	188	Ser-rich.					nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCTTCATCCGCATCTTCTAC	0.517													False	0	False	12:51065103	0	A	51065103	G	A	51065103	3	1	99	1	0	0	0	0	1	0	0	0	4558	1087	38	1	580	1	DIP2B	12	51065103	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	32173251	51065103	82786792	43	29792											
KRT7	3855	broad.mit.edu	37	chr12	52639299	52639299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggaagccgccctgcagcGgggcaagcaggatatggcac	16	12	0	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:52639299G>T	ENST00000331817.5	+	7	1271	c.1088G>T	c.(1087-1089)cGg>cTg	p.R363L	KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	363	Coil 2.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GCCCTGCAGCGGGGCAAGCAG	0.647													False	0	True	12:52639299	0	T	52639299	G	T	52639299	3	4	99	1	0	0	0	0	1	0	0	0	8533	1116	39	3	1114	3	KRT7	12	52639299	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	1574196	52639299	81212596	44	29793											
HSP90B1	7184	broad.mit.edu	37	chr12	104327988	104327988	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacaacgatacccagcacatCtgggagtctgactccaatga	8	12	2	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:104327988C>A	ENST00000299767.5	+	5	848	c.666C>A	c.(664-666)atC>atA	p.I222I		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	222					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CCCAGCACATCTGGGAGTCTG	0.433													False	0	False	12:104327988	0	A	104327988	C	A	104327988	2	1	99	1	0	0	0	0	0	0	0	1	7452	903	32	3		3	HSP90B1	12	104327988	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	51688689	104327988	29523907	45	29794											
TRPC4	7223	broad.mit.edu	37	chr13	38320594	38320594	+	Splice_Site	DEL	T	T	-													caaggagtataggaggcaccTaaaaaaaaaaaaggcagagg					rs80164537		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr13:38320594delT	ENST00000379705.3	-	3	1236		c.e3-2		TRPC4_ENST00000447043.1_Splice_Site|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379681.3_Splice_Site|TRPC4_ENST00000355779.2_Splice_Site|TRPC4_ENST00000379673.2_Splice_Site|TRPC4_ENST00000426868.2_Splice_Site|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Splice_Site			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4						axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGGAGGCACCTAAAAAAAAAA	0.338													False	1	True	13:38320594	0	-	38320594	T	-	38320594	8	5	99	1	0	1	0	1	0	0	1	0	16663	1536	53	0	2607	0	TRPC4	13	38320594	Splice_Site	DEL	T	TCGA-IB-8126-01A-11D-2396-08		38320594	76849284	46	29795											
CCDC70	83446	broad.mit.edu	37	chr13	52439917	52439917	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaggaggataaggccTtctggaaagaggacaatgcc	14	7	2	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr13:52439917T>A	ENST00000242819.4	+	2	699	c.403T>A	c.(403-405)Ttc>Atc	p.F135I		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	135						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGATAAGGCCTTCTGGAAAGA	0.478													False	0	False	13:52439917	0	A	52439917	T	A	52439917	3	1	99	1	0	0	0	0	1	0	0	0	2864	1609	56	5	405	5	CCDC70	13	52439917	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	14119323	52439917	62729961	47	29796											
TGM5	9333	broad.mit.edu	37	chr15	43527834	43527834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcctggcccatgttgggcGggtcgagcagcttgaatttc	13	10	0	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:43527834G>A	ENST00000220420.5	-	10	1554	c.1547C>T	c.(1546-1548)cCg>cTg	p.P516L	TGM5_ENST00000349114.4_Missense_Mutation_p.P434L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	516					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CATGTTGGGCGGGTCGAGCAG	0.567													False	0	True	15:43527834	0	A	43527834	G	A	43527834	3	1	99	1	0	0	0	0	1	0	0	0	15915	1116	39	1	631	1	TGM5	15	43527834	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08		43527834	59003558	48	29797											
IL16	3603	broad.mit.edu	37	chr15	81592482	81592482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaactctcccccctggcccgGacccgctcctaaggctgctg	9	19	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:81592482G>A	ENST00000394660.2	+	14	3175	c.2815G>A	c.(2815-2817)Gac>Aac	p.D939N	IL16_ENST00000302987.4_Missense_Mutation_p.D939N|IL16_ENST00000394652.2_Missense_Mutation_p.D238N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	939					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCCTGGCCCGGACCCGCTCCT	0.657													False	0	False	15:81592482	0	A	81592482	G	A	81592482	3	1	99	1	0	0	0	0	1	0	0	0	7683	1174	41	2	2865	2	IL16	15	81592482	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	38064648	81592482	20938910	49	29798											
GRIN2A	0	broad.mit.edu	37	chr16	9862737	9862737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagagcaacccaggccGgtcggagcacacgcccgtga	15	13	0	3			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:9862737G>A	ENST00000396573.2	-	13	2875	c.2566C>T	c.(2566-2568)Cgg>Tgg	p.R856W	GRIN2A_ENST00000396575.2_Missense_Mutation_p.R856W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R699W|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R856W|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R856W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R856W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	856					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACCCAGGCCGGTCGGAGCAC	0.567													False	0	False	16:9862737	0	A	9862737	G	A	9862737	3	1	99	1	0	0	0	0	1	0	0	0	6826	1115	39	1	1836	1	GRIN2A	16	9862737	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08		9862737	80492016	50	29799											
SBK1	388228	broad.mit.edu	37	chr16	28331735	28331735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttcccgtgggaggcggcGtcgggcgccgacgccttctt	15	14	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:28331735G>A	ENST00000341901.4	+	4	1557	c.768G>A	c.(766-768)gcG>gcA	p.A256A		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	256	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GGGAGGCGGCGTCGGGCGCCG	0.746													False	0	False	16:28331735	0	A	28331735	G	A	28331735	2	1	99	1	0	0	0	0	0	0	0	1	13940	1132	40	1		1	SBK1	16	28331735	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	18468998	28331735	62023018	51	29800											
OGFOD1	55239	broad.mit.edu	37	chr16	56509440	56509441	+	Frame_Shift_Ins	INS	-	-	GTTTTTTT													tgggagccagaatatggcggINSttttacttcttacattgcca					rs147207036	by1000genomes	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:56509440_56509441insGTTTTTTT	ENST00000566157.1	+	12	1553_1554	c.1430_1431insGTTTTTTT	c.(1429-1434)ggttttfs	p.-478fs	OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.-435fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1								iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GAATATGGCGGTTTTACTTCTT	0.366													False	0	True	16:56509440	0	GTTTTTTT	56509441	-	GTTTTTTT	56509440	7	5	99	1	0	1	1	0	0	0	0	0	10909	1261	44	0	1476	0	OGFOD1	16	56509440	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	28177705	56509440	33845313	52	29801											
HSD17B2	3294	broad.mit.edu	37	chr16	82131809	82131809	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatttcctcctattgatcaActcgttagccagcaaggact	7	11	1	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:82131809A>G	ENST00000199936.4	+	5	1125	c.932A>G	c.(931-933)aAc>aGc	p.N311S	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	311					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CTATTGATCAACTCGTTAGCC	0.542													False	0	False	16:82131809	0	G	82131809	A	G	82131809	3	3	99	1	0	0	0	0	1	0	0	0	7431	43	2	4	950	4	HSD17B2	16	82131809	Missense_Mutation	SNP	A	TCGA-IB-8126-01A-11D-2396-08	25622369	82131809	8222944	53	29802											
CDT1	81620	broad.mit.edu	37	chr16	88871873	88871873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggcgcccgcctaccagCgcttccatgccctggcccag	11	18	0	1	rs3218727	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:88871873C>T	ENST00000301019.4	+	4	1133	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	172	Interaction with GMNN.		R -> C (in dbSNP:rs3218727).		DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGCCTACCAGCGCTTCCATGC	0.677													False	0	False	16:88871873	0	T	88871873	C	T	88871873	3	4	99	1	0	0	0	0	1	0	0	0	3203	768	27	1	528	1	CDT1	16	88871873	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	6740064	88871873	1482880	54	29803											
KIAA0100	9703	broad.mit.edu	37	chr17	26946933	26946933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatttgggccacatgctgcCgcacagcctcctgcaaatgc	10	14	0	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:26946933C>T	ENST00000528896.2	-	30	5539	c.5465G>A	c.(5464-5466)cGg>cAg	p.R1822Q	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1679Q|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1679Q	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1822						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CACATGCTGCCGCACAGCCTC	0.493													False	0	False	17:26946933	0	T	26946933	C	T	26946933	3	4	99	1	0	0	0	0	1	0	0	0	8204	652	23	1	1282	1	KIAA0100	17	26946933	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08		26946933	54248277	55	29804											
NUFIP2	57532	broad.mit.edu	37	chr17	27613833	27613833	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggataagcgacttgatgaTtgggtctgagtttccccggt	14	7	1	3			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:27613833T>C	ENST00000225388.4	-	2	1237	c.1179A>G	c.(1177-1179)caA>caG	p.Q393Q	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	393	Ser-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GACTTGATGATTGGGTCTGAG	0.433													False	0	False	17:27613833	0	C	27613833	T	C	27613833	2	2	99	1	0	0	0	0	0	0	0	1	10817	1490	52	4		4	NUFIP2	17	27613833	Silent	SNP	T	TCGA-IB-8126-01A-11D-2396-08	666900	27613833	53581377	56	29805											
CSH2	1443	broad.mit.edu	37	chr17	61949520	61949520	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccctctacagagcggcacTgcaccatgcgcaggaatgtc	10	14	1	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:61949520T>A	ENST00000392886.2	-	5	771	c.620A>T	c.(619-621)cAg>cTg	p.Q207L	CSH2_ENST00000345366.7_Missense_Mutation_p.Q112L|CSH2_ENST00000560142.1_Missense_Mutation_p.Q150L|CSH2_ENST00000336844.5_3'UTR	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	207					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						AGAGCGGCACTGCACCATGCG	0.592													False	0	False	17:61949520	0	A	61949520	T	A	61949520	3	1	99	1	0	0	0	0	1	0	0	0	3966	1580	55	5	37	5	CSH2	17	61949520	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	34335687	61949520	19245690	57	29806											
RNF213	57674	broad.mit.edu	37	chr17	78363984	78363984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaccgaggagcgcttccGccctcagtggaggtatggat	13	12	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:78363984G>A	ENST00000582970.1	+	67	15601	c.15458G>A	c.(15457-15459)cGc>cAc	p.R5153H	CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_Missense_Mutation_p.R5202H|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R3226H|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGCGCTTCCGCCCTCAGTGG	0.483													False	0	True	17:78363984	0	A	78363984	G	A	78363984	3	1	99	1	0	0	0	0	1	0	0	0	13556	1087	38	1	16039	1	RNF213	17	78363984	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	16414464	78363984	2831226	58	29807											
RFX1	5989	broad.mit.edu	37	chr19	14104595	14104599	+	Frame_Shift_Del	DEL	CCTGT	CCTGT	-													gggctgggcttgtggcggggCctgtggcggctgggatggtg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	CCTGT	CCTGT	-	-	CCTGT	CCTGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:14104595_14104599delCCTGT	ENST00000254325.4	-	2	291_295	c.57_61delACAGG	c.(55-63)ccacaggccfs	p.QA20fs		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	20					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tgtggcggggcctgtggcggctggg	0.634													False	1	False	19:14104595	0	-	14104599	CCTGT	-	14104595	7	5	99	1	0	1	0	1	0	0	0	0	13341	739	26	0	2958	0	RFX1	19	14104595	Frame_Shift_Del	DEL	CCTGT	TCGA-IB-8126-01A-11D-2396-08		14104595	45024388	59	29808											
ZNF780A	284323	broad.mit.edu	37	chr19	40581109	40581109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacattcatatggttttaTaccagcatgaatactctgat	5	8	2	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:40581109T>C	ENST00000450241.2	-	6	1449	c.1138A>G	c.(1138-1140)Ata>Gta	p.I380V	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V|ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000414720.2_Intron			O75290	Z780A_HUMAN	zinc finger protein 780A	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I415V(1)|p.I380V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTATACCAGCATGA	0.383													False	0	False	19:40581109	0	C	40581109	T	C	40581109	3	2	99	1	0	0	0	0	1	0	0	0	18234	1406	49	4	816	4	ZNF780A	19	40581109	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	26476514	40581109	18547874	60	29809											
RPRD1B	58490	broad.mit.edu	37	chr20	36694636	36694636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatcagaaagatgttttgtCggagaaggagaaaaaactag	12	3	1	4			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:36694636C>T	ENST00000373433.4	+	6	1211	c.809C>T	c.(808-810)tCg>tTg	p.S270L		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	270										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GATGTTTTGTCGGAGAAGGAG	0.502													False	0	False	20:36694636	0	T	36694636	C	T	36694636	3	4	99	1	0	0	0	0	1	0	0	0	13695	893	31	1	831	1	RPRD1B	20	36694636	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08		36694636	26330884	61	29810											
SNX21	90203	broad.mit.edu	37	chr20	44469465	44469465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagagaccattgcccgccGtagccgggcctttgagcagt	13	13	0	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:44469465G>A	ENST00000372542.1	+	3	920	c.608G>A	c.(607-609)cGt>cAt	p.R203H	SNX21_ENST00000491381.1_Missense_Mutation_p.R212H|SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron			Q969T3	SNX21_HUMAN	sorting nexin family member 21	212	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				ATTGCCCGCCGTAGCCGGGCC	0.642													False	0	False	20:44469465	0	A	44469465	G	A	44469465	3	1	99	1	0	0	0	0	1	0	0	0	14973	1145	40	1	664	1	SNX21	20	44469465	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	7774829	44469465	18556055	62	29811											
ZNFX1	57169	broad.mit.edu	37	chr20	47887081	47887081	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttgtagactatgcctgatGatgaacacatgggggtgata	12	7	0	5			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:47887081G>A	ENST00000396105.1	-	3	1514	c.1268C>T	c.(1267-1269)tCa>tTa	p.S423L	ZNFX1_ENST00000371754.4_Missense_Mutation_p.S423L|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S423L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	423							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TATGCCTGATGATGAACACAT	0.448													False	0	True	20:47887081	0	A	47887081	G	A	47887081	3	1	99	1	0	0	0	0	1	0	0	0	18287	1294	45	2	4536	2	ZNFX1	20	47887081	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	3417616	47887081	15138439	63	29812											
TIAM1	7074	broad.mit.edu	37	chr21	32493078	32493078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgggctgcttgcggagaCggcatcagaatcaatggtaa	13	10	2	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr21:32493078C>T	ENST00000286827.3	-	29	4855	c.4384G>A	c.(4384-4386)Gtc>Atc	p.V1462I	TIAM1_ENST00000541036.1_Missense_Mutation_p.V1402I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1462					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTGCGGAGACGGCATCAGAA	0.562													False	0	False	21:32493078	0	T	32493078	C	T	32493078	3	4	99	1	0	0	0	0	1	0	0	0	15972	536	19	1	395	1	TIAM1	21	32493078	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08		32493078	15636817	64	29813											
MN1	4330	broad.mit.edu	37	chr22	28194183	28194183	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctgcggcgggtaggcAcccccgccaccgccgccacc	13	20	1	0	rs147022536	by1000genomes	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:28194183A>C	ENST00000302326.4	-	1	3303	c.2349T>G	c.(2347-2349)ggT>ggG	p.G783G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	783							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGGGTAGGCACCCCCGCCAC	0.726			T	ETV6	"AML, meningioma"								False	0	True	22:28194183	0	C	28194183	A	C	28194183	2	2	99	1	0	0	0	0	0	0	0	1	9740	146	6	4		4	MN1	22	28194183	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08		28194183	23110383	65	29814											
P2RY8	286530	broad.mit.edu	37	chrX	1584602	1584602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggtccagacagttgttgaGgcagctgagacacagcgtga	15	9	0	4			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:1584602G>T	ENST00000381297.4	-	2	1060	c.850C>A	c.(850-852)Ctc>Atc	p.L284I		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	284						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGTTGTTGAGGCAGCTGAGA	0.587			T	CRLF2	"B-ALL, Downs associated ALL"								False	0	False	X:1584602	0	T	1584602	G	T	1584602	3	4	99	1	0	0	0	0	1	0	0	0	11423	1000	35	3	233	3	P2RY8	23	1584602	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08		1584602	153685958	66	29815											
AKAP4	8852	broad.mit.edu	37	chrX	49957303	49957303	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgttcgcttgcttcatcccActggtacagtcaagttcttg	8	13	3	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:49957303A>G	ENST00000376056.2	-	5	2184	c.2034T>C	c.(2032-2034)agT>agC	p.S678S	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.S678S|AKAP4_ENST00000376058.2_Silent_p.S304S|AKAP4_ENST00000358526.2_Silent_p.S687S			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	687					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GCTTCATCCCACTGGTACAGT	0.478													False	0	True	X:49957303	0	G	49957303	A	G	49957303	2	3	99	1	0	0	0	0	0	0	0	1	453	156	6	4		4	AKAP4	23	49957303	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	48372701	49957303	105313257	67	29816											
CCNB3	85417	broad.mit.edu	37	chrX	50054016	50054016	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccttcaaggagccattAgccttacaagagagtcccac	8	12	1	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:50054016A>G	ENST00000376042.1	+	6	3145	c.2847A>G	c.(2845-2847)ttA>ttG	p.L949L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.L949L|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	949					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.L949L(5)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAGCCATTAGCCTTACAAG	0.483													False	0	False	X:50054016	0	G	50054016	A	G	50054016	2	3	99	1	0	0	0	0	0	0	0	1	2937	417	15	4		4	CCNB3	23	50054016	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	96713	50054016	105216544	68	29817											
SLC7A3	84889	broad.mit.edu	37	chrX	70146816	70146816	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtccccatagggtcaacttCtctgattcagtagttattgc	8	10	3	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:70146816C>A	ENST00000374299.3	-	9	1506	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	SLC7A3_ENST00000298085.4_Missense_Mutation_p.E454D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	454					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGGTCAACTTCTCTGATTCAG	0.468													False	0	False	X:70146816	0	A	70146816	C	A	70146816	3	1	99	1	0	0	0	0	1	0	0	0	14778	912	32	3	513	3	SLC7A3	23	70146816	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	20092800	70146816	85123744	69	29818											
VWA1	64856	broad.mit.edu	37	chr1	1374492	1374492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcagctccatgccacGgagatcacgtccagcggctt	11	16	1	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:1374492G>A	ENST00000476993.1	+	3	741	c.663G>A	c.(661-663)acG>acA	p.T221T	VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_Silent_p.T9T	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	221	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCATGCCACGGAGATCACGT	0.711													False	0	False	1:1374492	0	A	1374492	G	A	1374492	2	1	100	1	0	0	0	0	0	0	0	1	17322	1103	39	1		1	VWA1	1	1374492	Silent	SNP	G	TCGA-IB-8127-01A-11D-2396-08		1374492	247876129	1	29819											
GABRD	2563	broad.mit.edu	37	chr1	1961126	1961126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccgccctggtggagtaCgcctttgctcatttcaacgc	10	13	2	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:1961126C>T	ENST00000378585.4	+	8	1067	c.984C>T	c.(982-984)taC>taT	p.Y328Y		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	328						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGGTGGAGTACGCCTTTGCTC	0.612													False	0	False	1:1961126	0	T	1961126	C	T	1961126	2	4	100	1	0	0	0	0	0	0	0	1	6211	547	19	1		1	GABRD	1	1961126	Silent	SNP	C	TCGA-IB-8127-01A-11D-2396-08	586634	1961126	247289495	2	29820											
EPHA8	2046	broad.mit.edu	37	chr1	22925390	22925390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgagaggagtgggtgcCggcatgcgctacctctcaga	15	10	1	2			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:22925390C>T	ENST00000166244.3	+	13	2310	c.2238C>T	c.(2236-2238)gcC>gcT	p.A746A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	746	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGTGGGTGCCGGCATGCGCT	0.627													False	0	False	1:22925390	0	T	22925390	C	T	22925390	2	4	100	1	0	0	0	0	0	0	0	1	5205	639	23	1		1	EPHA8	1	22925390	Silent	SNP	C	TCGA-IB-8127-01A-11D-2396-08	20964264	22925390	226325231	3	29821											
SERINC2	347735	broad.mit.edu	37	chr1	31899619	31899619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtcttcatcagcctcaaCctcaccttctgtgtctgcgt	7	14	7	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:31899619C>T	ENST00000373710.1	+	7	1029	c.756C>T	c.(754-756)aaC>aaT	p.N252N	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Silent_p.N247N|SERINC2_ENST00000536384.1_Silent_p.N247N|SERINC2_ENST00000373709.3_Silent_p.N243N	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	243						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TCAGCCTCAACCTCACCTTCT	0.622													False	0	False	1:31899619	0	T	31899619	C	T	31899619	2	4	100	1	0	0	0	0	0	0	0	1	14161	506	18	2		2	SERINC2	1	31899619	Silent	SNP	C	TCGA-IB-8127-01A-11D-2396-08	8974229	31899619	217351002	4	29822											
ADORA3	140	broad.mit.edu	37	chr1	112028382	112028384	+	In_Frame_Del	DEL	CTC	CTC	-													cccttctattcctttgacttCtcctccttttggtcaaatga							TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:112028382_112028384delCTC	ENST00000369716.4	-	5	1084_1086	c.951_953delGAG	c.(949-954)aggaga>aga	p.317_318RR>R	ADORA3_ENST00000369717.4_In_Frame_Del_p.236_237RR>R	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CCTTTGACTTCTCCTCCTTTTGG	0.429													False	2	False	1:112028382	0	-	112028384	CTC	-	112028382	7	5	100	1	0	1	0	1	0	0	0	0	329	913	32	0	98	0	ADORA3	1	112028382	In_Frame_Del	DEL	CTC	TCGA-IB-8127-01A-11D-2396-08	80128763	112028382	137222239	5	29823											
ACP6	51205	broad.mit.edu	37	chr1	147131792	147131792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctcatggtattgagagtcGtaaggagaatatggtttcgg	14	4	1	2			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:147131792G>A	ENST00000369238.6	-	2	765	c.318C>T	c.(316-318)taC>taT	p.Y106Y	ACP6_ENST00000392988.2_Silent_p.Y106Y	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic						lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ATTGAGAGTCGTAAGGAGAAT	0.507													False	0	False	1:147131792	0	A	147131792	G	A	147131792	2	1	100	1	0	0	0	0	0	0	0	1	165	1140	40	1		1	ACP6	1	147131792	Silent	SNP	G	TCGA-IB-8127-01A-11D-2396-08	35103410	147131792	102118829	6	29824											
PSMB4	5692	broad.mit.edu	37	chr1	151372491	151372491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggacctcagtcctcggcGttaagttcgagggcggagtg	16	11	1	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:151372491G>A	ENST00000290541.6	+	2	229	c.175G>A	c.(175-177)Gtt>Att	p.V59I		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTCCTCGGCGTTAAGTTCGA	0.592													False	0	False	1:151372491	0	A	151372491	G	A	151372491	3	1	100	1	0	0	0	0	1	0	0	0	12755	1145	40	1	181	1	PSMB4	1	151372491	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	4240699	151372491	97878130	7	29825											
FLG	2312	broad.mit.edu	37	chr1	152280068	152280068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctccagtgctggtccCggtccgtccatgggcggact	12	15	1	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:152280068C>T	ENST00000368799.1	-	3	7329	c.7294G>A	c.(7294-7296)Ggg>Agg	p.G2432R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2432	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCTGGTCCCGGTCCGTCCA	0.592									Ichthyosis				False	0	True	1:152280068	0	T	152280068	C	T	152280068	3	4	100	1	0	0	0	0	1	0	0	0	5962	652	23	1	4895	1	FLG	1	152280068	Missense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08	907577	152280068	96970553	8	29826											
MUC1	4582	broad.mit.edu	37	chr1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacatcgtgggctggcggggTggtggagcccagggctggcc	21	10	0	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000368398.3_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368396.4_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL								False	0	True	1:155161799	0	G	155161799	T	G	155161799	3	3	100	1	0	0	0	0	1	0	0	0	10037	1711	59	4		4	MUC1	1	155161799	Missense_Mutation	SNP	T	TCGA-IB-8127-01A-11D-2396-08	2881731	155161799	94088822	9	29827											
HMCN1	83872	broad.mit.edu	37	chr1	185902879	185902879	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctaaagagtgtgaaattcaAcgatgctggagagtatcatt	11	5	2	3	rs143393655		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:185902879A>G	ENST00000271588.4	+	11	1980	c.1751A>G	c.(1750-1752)aAc>aGc	p.N584S	HMCN1_ENST00000367492.2_Missense_Mutation_p.N584S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	584	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGAAATTCAACGATGCTGGA	0.463													False	0	False	1:185902879	0	G	185902879	A	G	185902879	3	3	100	1	0	0	0	0	1	0	0	0	7267	43	2	4	1793	4	HMCN1	1	185902879	Missense_Mutation	SNP	A	TCGA-IB-8127-01A-11D-2396-08	30741080	185902879	63347742	10	29828											
ELF3	1999	broad.mit.edu	37	chr1	201982095	201982135	+	Frame_Shift_Del	DEL	TCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	TCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	-													ggactggtgcttctcggagcTcccactcctcagactccggt					rs148651345		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	TCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	TCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	-	-	TCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	TCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:201982095_201982135delTCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	ENST00000359651.3	+	5	3811_3851	c.619_659delTCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	c.(619-660)tcccactcctcagactccggtggaagtgacgtggacctggatfs	p.SHSSDSGGSDVDLD207fs	ELF3_ENST00000367284.5_Frame_Shift_Del_p.SHSSDSGGSDVDLD207fs|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Del_p.SHSSDSGGSDVDLD207fs			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	207					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TTCTCGGAGCTCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGATCCCACTGAT	0.647													False	1	False	1:201982095	0	-	201982135	TCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	-	201982095	7	5	100	1	0	1	0	1	0	0	0	0	5087	1551	54	0	637	0	ELF3	1	201982095	Frame_Shift_Del	DEL	TCCCACTCCTCAGACTCCGGTGGAAGTGACGTGGACCTGGA	TCGA-IB-8127-01A-11D-2396-08	16079216	201982095	47268526	11	29829											
ANTXR1	84168	broad.mit.edu	37	chr2	69409641	69409641	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaggttcgttggggagaaaAgggctccacagaagaaggtg	16	5	0	3			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:69409641A>G	ENST00000303714.4	+	16	1524	c.1202A>G	c.(1201-1203)aAg>aGg	p.K401R		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	401					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGGGAGAAAAGGGCTCCACA	0.418									Familial Infantile Hemangioma				False	0	True	2:69409641	0	G	69409641	A	G	69409641	3	3	100	1	0	0	0	0	1	0	0	0	711	72	3	4	1341	4	ANTXR1	2	69409641	Missense_Mutation	SNP	A	TCGA-IB-8127-01A-11D-2396-08		69409641	173789732	12	29830											
CLEC4F	165530	broad.mit.edu	37	chr2	71036948	71036948	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgcccctgtcagtgagaccGatccagtagtacactttact	9	12	1	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:71036948G>A	ENST00000272367.2	-	6	1657	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	CLEC4F_ENST00000426626.1_Silent_p.I527I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	527	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGTGAGACCGATCCAGTAGT	0.562													False	0	False	2:71036948	0	A	71036948	G	A	71036948	2	1	100	1	0	0	0	0	0	0	0	1	3539	1048	37	1		1	CLEC4F	2	71036948	Silent	SNP	G	TCGA-IB-8127-01A-11D-2396-08	1627307	71036948	172162425	13	29831											
DYSF	8291	broad.mit.edu	37	chr2	71740934	71740934	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaagcggaggcccgggggcTcccaccaccccaaggaaact	12	16	0	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:71740934T>C	ENST00000258104.3	+	6	823	c.546T>C	c.(544-546)gcT>gcC	p.A182A	DYSF_ENST00000409762.1_Silent_p.A213A|DYSF_ENST00000409744.1_Silent_p.A183A|DYSF_ENST00000394120.2_Silent_p.A183A|DYSF_ENST00000409582.3_Silent_p.A213A|DYSF_ENST00000409651.1_Silent_p.A214A|DYSF_ENST00000429174.2_Silent_p.A182A|DYSF_ENST00000410041.1_Silent_p.A214A|DYSF_ENST00000410020.3_Silent_p.A214A|DYSF_ENST00000409366.1_Silent_p.A183A|DYSF_ENST00000413539.2_Silent_p.A213A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	182						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCCGGGGGCTCCCACCACCC	0.582													False	0	True	2:71740934	0	C	71740934	T	C	71740934	2	2	100	1	0	0	0	0	0	0	0	1	4889	1538	54	4		4	DYSF	2	71740934	Silent	SNP	T	TCGA-IB-8127-01A-11D-2396-08	703986	71740934	171458439	14	29832											
UNC50	25972	broad.mit.edu	37	chr2	99226227	99226228	+	Frame_Shift_Ins	INS	-	-	A													cttccatctaggaagatgttINSaccgagtacttcagtgaatt					rs140953303		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:99226227_99226228insA	ENST00000409975.1	+	1	1186_1187	c.56_57insA	c.(55-60)ttaccgfs	p.P20fs	UNC50_ENST00000409347.1_Frame_Shift_Ins_p.P20fs|UNC50_ENST00000357765.2_Frame_Shift_Ins_p.P3fs			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	3					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AGGAAGATGTTACCGAGTACTT	0.45													False	1	False	2:99226227	0	A	99226228	-	A	99226227	7	5	100	1	0	1	1	0	0	0	0	0	17074	1764	61	0	7	0	UNC50	2	99226227	Frame_Shift_Ins	INS	-	TCGA-IB-8127-01A-11D-2396-08	27485293	99226227	143973146	15	29833											
RGPD8	727851	broad.mit.edu	37	chr2	113147089	113147089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttaaattttgctgccaaccGctctagtttggcatcaccat	6	11	2	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:113147089G>A	ENST00000302558.3	-	20	3624	c.3433C>T	c.(3433-3435)Cgg>Tgg	p.R1145W	RGPD8_ENST00000409750.1_Missense_Mutation_p.R1005W	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GCTGCCAACCGCTCTAGTTTG	0.458													False	0	False	2:113147089	0	A	113147089	G	A	113147089	3	1	100	1	0	0	0	0	1	0	0	0	13369	1086	38	1	1880	1	RGPD8	2	113147089	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	13920862	113147089	130052284	16	29834											
CNTNAP5	129684	broad.mit.edu	37	chr2	125367458	125367458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcgactcagatggcagcGgcccactgggacctctccag	11	15	2	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:125367458G>A	ENST00000431078.1	+	12	2198	c.1834G>A	c.(1834-1836)Ggc>Agc	p.G612S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	612	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGATGGCAGCGGCCCACTGGG	0.532													False	0	False	2:125367458	0	A	125367458	G	A	125367458	3	1	100	1	0	0	0	0	1	0	0	0	3673	1116	39	1	1880	1	CNTNAP5	2	125367458	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	12220369	125367458	117831915	17	29835											
LRP1B	53353	broad.mit.edu	37	chr2	141457900	141457900	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatcactgtaaaagattcGgttggtaccttttcttcttt	7	8	3	1	rs111904937		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:141457900G>A	ENST00000389484.3	-	41	7689	c.6718C>T	c.(6718-6720)Cga>Tga	p.R2240*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2240					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAAAGATTCGGTTGGTACCT	0.338										TSP Lung(27;0.18)			False	0	False	2:141457900	0	A	141457900	G	A	141457900	4	1	100	1	0	0	0	0	0	1	0	0	9017	1124	39	1	7285	1	LRP1B	2	141457900	Nonsense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	16090442	141457900	101741473	18	29836											
SCN1A	6323	broad.mit.edu	37	chr2	166911147	166911147	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttcaaaaaaggcacttaCgcaaatgtaatgacagtgaa	8	6	1	2			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:166911147C>T	ENST00000423058.2	-	4	620		c.e4+1		AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Splice_Site|SCN1A_ENST00000303395.4_Splice_Site|SCN1A_ENST00000409050.1_Splice_Site	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit							voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGGCACTTACGCAAATGTAA	0.343													False	0	False	2:166911147	0	T	166911147	C	T	166911147	5	4	100	1	0	0	0	0	0	0	1	0	13995	550	19	1	5518	1	SCN1A	2	166911147	Splice_Site	SNP	C	TCGA-IB-8127-01A-11D-2396-08	25453247	166911147	76288226	19	29837											
DOCK10	55619	broad.mit.edu	37	chr2	225659771	225659771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaaaacagtccttataCgcttagtcaggtccttcacc	5	14	3	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:225659771C>T	ENST00000409592.3	-	45	5074	c.4961G>A	c.(4960-4962)cGt>cAt	p.R1654H	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1660H			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1660	DHR-2.						GTP binding	p.R1658H(1)|p.R198H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTCCTTATACGCTTAGTCAG	0.478													False	0	False	2:225659771	0	T	225659771	C	T	225659771	3	4	100	1	0	0	0	0	1	0	0	0	4715	536	19	1	1629	1	DOCK10	2	225659771	Missense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08	58748624	225659771	17539602	20	29838											
ANKRD28	23243	broad.mit.edu	37	chr3	15731728	15731728	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaccatgataggcCtagaaataaataaaaatgta	9	4	0	4			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr3:15731728C>T	ENST00000399451.2	-	18	2039		c.e18-1		ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CATGATAGGCCTAGAAATAAA	0.318													False	0	False	3:15731728	0	T	15731728	C	T	15731728	5	4	100	1	0	0	0	0	0	0	1	0	656	695	24	2	1534	2	ANKRD28	3	15731728	Splice_Site	SNP	C	TCGA-IB-8127-01A-11D-2396-08		15731728	182290702	21	29839											
SCN5A	6331	broad.mit.edu	37	chr3	38627422	38627422	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accacagcaaagatgaacacGatgatggctagcaccagtgt	10	10	0	3			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr3:38627422G>A	ENST00000413689.1	-	16	2740	c.2547C>T	c.(2545-2547)atC>atT	p.I849I	SCN5A_ENST00000443581.1_Silent_p.I849I|SCN5A_ENST00000425664.1_Silent_p.I849I|SCN5A_ENST00000449557.2_Silent_p.I849I|SCN5A_ENST00000414099.2_Silent_p.I849I|SCN5A_ENST00000451551.2_Silent_p.I849I|SCN5A_ENST00000333535.4_Silent_p.I849I|SCN5A_ENST00000423572.2_Silent_p.I849I|SCN5A_ENST00000455624.2_Silent_p.I849I|SCN5A_ENST00000450102.2_Silent_p.I849I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	849					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGATGAACACGATGATGGCTA	0.567													False	0	False	3:38627422	0	A	38627422	G	A	38627422	2	1	100	1	0	0	0	0	0	0	0	1	14003	1048	37	1		1	SCN5A	3	38627422	Silent	SNP	G	TCGA-IB-8127-01A-11D-2396-08	22895694	38627422	159395008	22	29840											
NAALADL2	254827	broad.mit.edu	37	chr3	174815006	174815006	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccttcagatgctccatcttCaggaacagttgatcctcagt	7	13	4	2			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr3:174815006C>A	ENST00000454872.1	+	2	598	c.470C>A	c.(469-471)tCa>tAa	p.S157*	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	157					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCTCCATCTTCAGGAACAGTT	0.358													False	0	False	3:174815006	0	A	174815006	C	A	174815006	4	1	100	1	0	0	0	0	0	1	0	0	10197	838	29	3	476	3	NAALADL2	3	174815006	Nonsense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08	136187584	174815006	23207424	23	29841											
DHX15	1665	broad.mit.edu	37	chr4	24578266	24578266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggtctcgatctttagacCgatcttcacgatcccggtct	8	14	5	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:24578266C>T	ENST00000336812.4	-	2	263	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	36					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ATCTTTAGACCGATCTTCACG	0.418													False	0	False	4:24578266	0	T	24578266	C	T	24578266	3	4	100	1	0	0	0	0	1	0	0	0	4531	652	23	1	2332	1	DHX15	4	24578266	Missense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08		24578266	166576010	24	29842											
KCTD8	386617	broad.mit.edu	37	chr4	44176848	44176848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttcagattgccattggcGtttgcgctctggaaaataat	10	8	2	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:44176848G>A	ENST00000360029.3	-	2	1664	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	461						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R461C(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGCCATTGGCGTTTGCGCTCT	0.363										HNSCC(17;0.042)			False	0	True	4:44176848	0	A	44176848	G	A	44176848	3	1	100	1	0	0	0	0	1	0	0	0	8165	1145	40	1	44	1	KCTD8	4	44176848	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	19598582	44176848	146977428	25	29843											
MMRN1	22915	broad.mit.edu	37	chr4	90872776	90872776	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggagtattcaagctgtagtCggcatccgtgccaaaatggg	13	8	1	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:90872776C>A	ENST00000394980.1	+	8	3458	c.3139C>A	c.(3139-3141)Cgg>Agg	p.R1047R	MMRN1_ENST00000394981.1_Silent_p.R350R|MMRN1_ENST00000264790.2_Silent_p.R1047R|MMRN1_ENST00000508372.1_Silent_p.R789R			Q13201	MMRN1_HUMAN	multimerin 1	1047	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAGCTGTAGTCGGCATCCGTG	0.433													False	0	False	4:90872776	0	A	90872776	C	A	90872776	2	1	100	1	0	0	0	0	0	0	0	1	9737	875	31	3		3	MMRN1	4	90872776	Silent	SNP	C	TCGA-IB-8127-01A-11D-2396-08	46695928	90872776	100281500	26	29844											
GYPA	2993	broad.mit.edu	37	chr4	145038028	145038028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttatcagtcggcgaataccGtaagaaattaagaggatcgt	10	6	1	2	rs140442202		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:145038028G>A	ENST00000360771.4	-	5	451	c.336C>T	c.(334-336)taC>taT	p.Y112Y	GYPB_ENST00000283126.7_Intron|GYPA_ENST00000535709.1_Silent_p.Y86Y|GYPA_ENST00000512789.1_Silent_p.Y47Y|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Silent_p.Y99Y|GYPA_ENST00000503627.1_Silent_p.Y67Y|GYPA_ENST00000504786.1_Silent_p.Y80Y|GYPA_ENST00000324022.10_Silent_p.Y79Y	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	112					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GGCGAATACCGTAAGAAATTA	0.368													False	0	False	4:145038028	0	A	145038028	G	A	145038028	2	1	100	1	0	0	0	0	0	0	0	1	6955	1140	40	1		1	GYPA	4	145038028	Silent	SNP	G	TCGA-IB-8127-01A-11D-2396-08	54165252	145038028	46116248	27	29845											
ZDHHC11	79844	broad.mit.edu	37	chr5	825360	825360	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagcagggagctcttggcTttgactctggtgggacagaa	14	8	3	2			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:825360T>C	ENST00000283441.8	-	8	1325	c.942A>G	c.(940-942)aaA>aaG	p.K314K	ZDHHC11_ENST00000424784.2_Silent_p.K314K|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	314						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGCTCTTGGCTTTGACTCTGG	0.552													False	0	True	5:825360	0	C	825360	T	C	825360	2	2	100	1	0	0	0	0	0	0	0	1	17684	1606	56	4		4	ZDHHC11	5	825360	Silent	SNP	T	TCGA-IB-8127-01A-11D-2396-08		825360	180089900	28	29846											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	100	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-IB-8127-01A-11D-2396-08	77785084	78610444	102304816	29	29847											
PCDHA7	0	broad.mit.edu	37	chr5	140215668	140215668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgcgccggcactgctggCgcctcgggtgggtggcactg	17	14	0	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:140215668C>T	ENST00000525929.1	+	1	1700	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A567V|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGCTGGCGCCTCGGGTG	0.692													False	0	False	5:140215668	0	T	140215668	C	T	140215668	3	4	100	1	0	0	0	0	1	0	0	0	11597	768	27	1	1702	1	PCDHA7	5	140215668	Missense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08	61605224	140215668	40699592	30	29848											
PCDHGA1	0	broad.mit.edu	37	chr5	140712339	140712339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actctgtacctggtggtggcGgcggccgcggtctcctgcgt	16	13	2	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:140712339G>A	ENST00000517417.1	+	1	2088	c.2088G>A	c.(2086-2088)gcG>gcA	p.A696A	PCDHGA1_ENST00000378105.3_Silent_p.A696A	NM_018912.2	NP_061735.1												p.A696A(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGGCGGCGGCCGCGG	0.672													False	0	True	5:140712339	0	A	140712339	G	A	140712339	2	1	100	1	0	0	0	0	0	0	0	1	11618	1103	39	1		1	PCDHGA1	5	140712339	Silent	SNP	G	TCGA-IB-8127-01A-11D-2396-08	496671	140712339	40202921	31	29849											
PCDHGA9	0	broad.mit.edu	37	chr5	140783647	140783647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgctcatgaccgagactcCgggaagaatggtcaagttgt	12	8	2	3			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:140783647C>T	ENST00000573521.1	+	1	1128	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGAGACTCCGGGAAGAATG	0.408													False	0	True	5:140783647	0	T	140783647	C	T	140783647	2	4	100	1	0	0	0	0	0	0	0	1	11629	639	23	1		1	PCDHGA9	5	140783647	Silent	SNP	C	TCGA-IB-8127-01A-11D-2396-08	71308	140783647	40131613	32	29850											
PDGFRB	5159	broad.mit.edu	37	chr5	149499063	149499063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgggcaggctgggccatgCggtaaccccgtttgatggca	15	11	0	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:149499063C>T	ENST00000261799.4	-	20	3234	c.2765G>A	c.(2764-2766)cGc>cAc	p.R922H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	922	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.R922H(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCCATGCGGTAACCCCG	0.537			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								False	0	False	5:149499063	0	T	149499063	C	T	149499063	3	4	100	1	0	0	0	0	1	0	0	0	11730	768	27	1	571	1	PDGFRB	5	149499063	Missense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08	8715416	149499063	31416197	33	29851											
TNIP1	10318	broad.mit.edu	37	chr5	150422486	150422486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactgctgcttcatggaccGgaaatgctggtcccactgct	10	12	1	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:150422486G>A	ENST00000389378.2	-	10	1561	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	TNIP1_ENST00000315050.7_Missense_Mutation_p.R325W|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000522226.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523200.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521591.1_Missense_Mutation_p.R325W|TNIP1_ENST00000518977.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523338.1_Missense_Mutation_p.R325W|TNIP1_ENST00000520931.1_Missense_Mutation_p.R272W|TNIP1_ENST00000524280.1_Missense_Mutation_p.R325W	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	325	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATGGACCGGAAATGCTGG	0.552													False	0	False	5:150422486	0	A	150422486	G	A	150422486	3	1	100	1	0	0	0	0	1	0	0	0	16396	1115	39	1	973	1	TNIP1	5	150422486	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	923423	150422486	30492774	34	29852											
GABRB2	0	broad.mit.edu	37	chr5	160721244	160721244	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggcgacttttcttttgCgccacatgtcgttccagagc	9	13	2	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:160721244C>T	ENST00000274547.2	-	11	1600	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	GABRB2_ENST00000353437.6_Silent_p.A423A|GABRB2_ENST00000520240.1_Silent_p.A423A|GABRB2_ENST00000517547.1_Silent_p.A263A|GABRB2_ENST00000393959.1_Silent_p.A461A|GABRB2_ENST00000517901.1_Silent_p.A360A	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	461					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTCTTTTGCGCCACATGTC	0.517													False	0	False	5:160721244	0	T	160721244	C	T	160721244	2	4	100	1	0	0	0	0	0	0	0	1	6209	755	27	1		1	GABRB2	5	160721244	Silent	SNP	C	TCGA-IB-8127-01A-11D-2396-08	10298758	160721244	20194016	35	29853											
IRF4	3662	broad.mit.edu	37	chr6	401644	401644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctctggatggcccccgaCgggctctatgcgaaaagact	12	13	2	1	rs113364548	by1000genomes	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr6:401644C>T	ENST00000380956.4	+	7	1092	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	322					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TGGCCCCCGACGGGCTCTATG	0.607			T	IGH@	MM								False	0	True	6:401644	0	T	401644	C	T	401644	2	4	100	1	0	0	0	0	0	0	0	1	7882	535	19	1		1	IRF4	6	401644	Silent	SNP	C	TCGA-IB-8127-01A-11D-2396-08		401644	170713423	36	29854											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	100	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-8127-01A-11D-2396-08	6991806	7393450	163721617	37	29855											
ZMIZ2	83637	broad.mit.edu	37	chr7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-													aagcggcagctgctgcagctGtggctgctgcggcagccact					rs142075074	by1000genomes	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678													False	1	False	7:44797065	0	-	44797109	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	44797065	7	5	100	1	0	1	0	1	0	0	0	0	17780	1377	48	0	471	0	ZMIZ2	7	44797065	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	TCGA-IB-8127-01A-11D-2396-08		44797065	114341598	38	29856											
CALN1	83698	broad.mit.edu	37	chr7	71252799	71252799	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtatctggttggctgcaatCagcatgacactgatgatgaa	11	7	2	4			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:71252799C>T	ENST00000395275.2	-	7	1135	c.747G>A	c.(745-747)ctG>ctA	p.L249L	CALN1_ENST00000412588.1_Silent_p.L249L|CALN1_ENST00000405452.2_Silent_p.L207L|CALN1_ENST00000395276.2_Silent_p.L207L|CALN1_ENST00000329008.5_Silent_p.L207L|CALN1_ENST00000431984.1_Silent_p.L207L	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	207						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.L249L(1)|p.L207L(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGCTGCAATCAGCATGACAC	0.592													False	0	False	7:71252799	0	T	71252799	C	T	71252799	2	4	100	1	0	0	0	0	0	0	0	1	2611	813	29	2		2	CALN1	7	71252799	Silent	SNP	C	TCGA-IB-8127-01A-11D-2396-08	26455734	71252799	87885864	39	29857											
PTPN12	0	broad.mit.edu	37	chr7	77230123	77230123	+	Splice_Site	DEL	G	G	-													tcctatttgtattcattgcaGgtacaaaagaatttcccaag							TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:77230123delG	ENST00000248594.6	+	8	967	c.695delG	c.(694-696)agt>at	p.S232fs	PTPN12_ENST00000415482.2_Splice_Site_p.S113fs|PTPN12_ENST00000435495.2_Splice_Site_p.S102fs	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	232	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATTCATTGCAGGTACAAAAGA	0.294													False	2	False	7:77230123	0	-	77230123	G	-	77230123	8	5	100	1	0	1	0	1	0	0	1	0	12858	1014	35	0	725	0	PTPN12	7	77230123	Splice_Site	DEL	G	TCGA-IB-8127-01A-11D-2396-08	5977324	77230123	81908540	40	29858											
PTPN12	0	broad.mit.edu	37	chr7	77268050	77268051	+	Splice_Site	INS	-	-	TTTGGTAATCGATGTGGAAAACCCAAAGGACCAAG													cagaagccacagatattggtINSaatttgtttaataaataatt							TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:77268050_77268051insTTTGGTAATCGATGTGGAAAACCCAAAGGACCAAG	ENST00000248594.6	+	17	2553		c.e17+2		PTPN12_ENST00000415482.2_Splice_Site|PTPN12_ENST00000435495.2_Splice_Site	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12							soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CAGATATTGGTAATTTGTTTAA	0.347													False	0	False	7:77268050	0	TTTGGTAATCGATGTGGAAAACCCAAAGGACCAAG	77268051	-	TTTGGTAATCGATGTGGAAAACCCAAAGGACCAAG	77268050	8	5	100	1	0	1	1	0	0	0	1	0	12858	1652	57	0	2349	0	PTPN12	7	77268050	Splice_Site	INS	-	TCGA-IB-8127-01A-11D-2396-08	37927	77268050	81870613	41	29859											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518727	113518727	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacgtacattacaaatacctAaacgtgattccttttcaaaa	3	10	1	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:113518727A>C	ENST00000284601.3	-	4	2488	c.2420T>G	c.(2419-2421)tTa>tGa	p.L807*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	807					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACAAATACCTAAACGTGATTC	0.383													False	0	True	7:113518727	0	C	113518727	A	C	113518727	4	2	100	1	0	0	0	0	0	1	0	0	12445	372	13	4	952	4	PPP1R3A	7	113518727	Nonsense_Mutation	SNP	A	TCGA-IB-8127-01A-11D-2396-08	36250677	113518727	45619936	42	29860											
DOCK8	81704	broad.mit.edu	37	chr9	372257	372257	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgccttggaaaaattgCcacccaactactccatgcat	6	13	0	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:372257C>T	ENST00000432829.2	+	18	2192	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000453981.1_Missense_Mutation_p.P694S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	694					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAAAATTGCCACCCAACTA	0.448													False	0	False	9:372257	0	T	372257	C	T	372257	3	4	100	1	0	0	0	0	1	0	0	0	4723	739	26	2	2150	2	DOCK8	9	372257	Missense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08		372257	140841174	43	29861											
CDKN2A	1029	broad.mit.edu	37	chr9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagcgtgtccaggaagccctCccgggcagcgtcgtgcacgg	15	15	0	0	rs121913384		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21971096	0	A	21971096	C	A	21971096	4	1	100	1	0	0	0	0	0	1	0	0	3184	864	30	3	216	3	CDKN2A	9	21971096	Nonsense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08	21598839	21971096	119242335	44	29862											
LINGO2	158038	broad.mit.edu	37	chr9	27949236	27949236	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgatgcaaacatacatcccGctgtcttgatcctgggcaaa	9	12	1	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:27949236G>A	ENST00000379992.2	-	6	1883	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	LINGO2_ENST00000308675.3_Silent_p.S478S	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	478	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CATACATCCCGCTGTCTTGAT	0.502													False	0	True	9:27949236	0	A	27949236	G	A	27949236	2	1	100	1	0	0	0	0	0	0	0	1	8868	1078	38	1		1	LINGO2	9	27949236	Silent	SNP	G	TCGA-IB-8127-01A-11D-2396-08	5978140	27949236	113264195	45	29863											
WNK2	65268	broad.mit.edu	37	chr9	96080243	96080243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggcacagcactcagccGcgagggggacagcgggtggg	20	10	1	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:96080243G>A	ENST00000297954.4	+	30	6828	c.6828G>A	c.(6826-6828)ccG>ccA	p.P2276P	WNK2_ENST00000395475.2_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000427277.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395477.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2276					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCACTCAGCCGCGAGGGGGAC	0.672													False	0	False	9:96080243	0	A	96080243	G	A	96080243	2	1	100	1	0	0	0	0	0	0	0	1	17462	1102	38	1		1	WNK2	9	96080243	Silent	SNP	G	TCGA-IB-8127-01A-11D-2396-08	68131007	96080243	45133188	46	29864											
ENDOG	2021	broad.mit.edu	37	chr9	131584646	131584646	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctacgtaaagtaccaggtCatcggcaagaaccacgtggc	10	12	1	1	rs141194619		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:131584646C>A	ENST00000372642.4	+	3	862	c.651C>A	c.(649-651)gtC>gtA	p.V217V	C9orf114_ENST00000361256.5_3'UTR	NM_004435.2	NP_004426.2	Q14249	NUCG_HUMAN	endonuclease G	217						mitochondrion	endonuclease activity|metal ion binding|nucleic acid binding										AGTACCAGGTCATCGGCAAGA	0.587													False	0	False	9:131584646	0	A	131584646	C	A	131584646	2	1	100	1	0	0	0	0	0	0	0	1	5147	813	29	3		3	ENDOG	9	131584646	Silent	SNP	C	TCGA-IB-8127-01A-11D-2396-08	35504403	131584646	9628785	47	29865											
USP20	0	broad.mit.edu	37	chr9	132640646	132640646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccttccaggccgaggagtcGccgggcgtcatctactgcat	13	14	2	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:132640646G>A	ENST00000315480.4	+	23	2597	c.2439G>A	c.(2437-2439)tcG>tcA	p.S813S	USP20_ENST00000358355.1_Silent_p.S813S|USP20_ENST00000372429.3_Silent_p.S813S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	813	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCGAGGAGTCGCCGGGCGTCA	0.607													False	0	False	9:132640646	0	A	132640646	G	A	132640646	2	1	100	1	0	0	0	0	0	0	0	1	17136	1074	38	1		1	USP20	9	132640646	Silent	SNP	G	TCGA-IB-8127-01A-11D-2396-08	1056000	132640646	8572785	48	29866											
C9orf172	389813	broad.mit.edu	37	chr9	139739952	139739952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgggccccgctatgtcccCgaggagccccgggcccactc	12	19	0	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:139739952C>T	ENST00000436881.1	+	1	1086	c.1086C>T	c.(1084-1086)ccC>ccT	p.P362P		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	362	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						GCTATGTCCCCGAGGAGCCCC	0.697													False	0	True	9:139739952	0	T	139739952	C	T	139739952	2	4	100	1	0	0	0	0	0	0	0	1	2491	639	23	1		1	C9orf172	9	139739952	Silent	SNP	C	TCGA-IB-8127-01A-11D-2396-08	7099306	139739952	1473479	49	29867											
CACNA1B	774	broad.mit.edu	37	chr9	140880965	140880965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgttcattgtggtcttcGccctgctggggatgcagctg	13	11	2	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:140880965G>A	ENST00000371372.1	+	14	2015	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	CACNA1B_ENST00000277551.2_Missense_Mutation_p.A624T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A624T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A625T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A625T|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	624					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTGGTCTTCGCCCTGCTGGG	0.597													False	0	True	9:140880965	0	A	140880965	G	A	140880965	3	1	100	1	0	0	0	0	1	0	0	0	2559	1087	38	1	1924	1	CACNA1B	9	140880965	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	1141013	140880965	332466	50	29868											
AGAP6	414189	broad.mit.edu	37	chr10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttgtagaaataagaagaaGcaactgtacaaaccatgtaa	8	5	0	3			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269													False	0	True	10:51754173	0	T	51754173	G	T	51754173	3	4	100	1	0	0	0	0	1	0	0	0	372	971	34	3	394	3	AGAP6	10	51754173	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08		51754173	83780574	51	29869											
MMS19	64210	broad.mit.edu	37	chr10	99219804	99219804	+	Splice_Site	DEL	T	T	-													cttctttcagactcctcaccTtggggagcagcatggaagcc							TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr10:99219804delT	ENST00000438925.2	-	26	2990	c.2655delA	c.(2653-2655)caa>ca	p.Q885fs	MMS19_ENST00000370782.2_Splice_Site_p.Q885fs|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Splice_Site_p.Q787fs|MMS19_ENST00000355839.6_Splice_Site_p.Q842fs	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	885					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		ACTCCTCACCTTGGGGAGCAG	0.522								Direct reversal of damage					False	2	False	10:99219804	0	-	99219804	T	-	99219804	8	5	100	1	0	1	0	1	0	0	1	0	9739	1623	56	0	461	0	MMS19	10	99219804	Splice_Site	DEL	T	TCGA-IB-8127-01A-11D-2396-08	47465631	99219804	36314943	52	29870											
SORCS1	114815	broad.mit.edu	37	chr10	108923788	108923788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgagtctcccgtcagcGcaaacgtggtgctggtcagt	14	11	3	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr10:108923788G>A	ENST00000263054.6	-	1	504	c.497C>T	c.(496-498)gCg>gTg	p.A166V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A166V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	166						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCCGTCAGCGCAAACGTGGT	0.607													False	0	False	10:108923788	0	A	108923788	G	A	108923788	3	1	100	1	0	0	0	0	1	0	0	0	15010	1087	38	1	3347	1	SORCS1	10	108923788	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	9703984	108923788	26610959	53	29871											
RBM14	10432	broad.mit.edu	37	chr11	66393976	66393976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagctctctgattaccgccGtttatcagagtcgcagcttt	9	12	2	2			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:66393976G>A	ENST00000310137.4	+	3	1986	c.1847G>A	c.(1846-1848)cGt>cAt	p.R616H	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_3'UTR|RBM14-RBM4_ENST00000511114.1_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	616					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GATTACCGCCGTTTATCAGAG	0.562													False	0	True	11:66393976	0	A	66393976	G	A	66393976	3	1	100	1	0	0	0	0	1	0	0	0	13194	1145	40	1	1857	1	RBM14	11	66393976	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08		66393976	68612540	54	29872											
ATM	472	broad.mit.edu	37	chr11	108199926	108199926	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaaagagccaaagaggAagtaggtctccttagggaac	12	8	1	3	rs121434221		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:108199926A>G	ENST00000278616.4	+	49	7653	c.7268A>G	c.(7267-7269)gAa>gGa	p.E2423G	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.E2423G	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2423	FAT.		E -> G (in mantle cell lymphoma).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E2423G(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCCAAAGAGGAAGTAGGTCTC	0.368			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			False	0	False	11:108199926	0	G	108199926	A	G	108199926	3	3	100	1	0	0	0	0	1	0	0	0	1113	246	9	4	7458	4	ATM	11	108199926	Missense_Mutation	SNP	A	TCGA-IB-8127-01A-11D-2396-08	41805950	108199926	26806590	55	29873											
OR10G7	390265	broad.mit.edu	37	chr11	123908881	123908881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaaagaggagtcagcgtGgtgtagaaaacggccacaac	13	7	1	3			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:123908881G>A	ENST00000330487.5	-	1	836	c.828C>T	c.(826-828)acC>acT	p.T276T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAGTCAGCGTGGTGTAGAAAA	0.498													False	0	False	11:123908881	0	A	123908881	G	A	123908881	2	1	100	1	0	0	0	0	0	0	0	1	10970	1335	47	2		2	OR10G7	11	123908881	Silent	SNP	G	TCGA-IB-8127-01A-11D-2396-08	15708955	123908881	11097635	56	29874											
CCND2	894	broad.mit.edu	37	chr12	4383259	4383259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagggccgtgcgggaccGcaacctgctccgagacgacc	14	17	0	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:4383259G>A	ENST00000261254.3	+	1	322	c.53G>A	c.(52-54)cGc>cAc	p.R18H	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	18					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GTGCGGGACCGCAACCTGCTC	0.667			T	IGL@	"NHL,CLL"								False	0	False	12:4383259	0	A	4383259	G	A	4383259	3	1	100	1	0	0	0	0	1	0	0	0	2940	1087	38	1	55	1	CCND2	12	4383259	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08		4383259	129468636	57	29875											
CLEC2D	29121	broad.mit.edu	37	chr12	9840545	9840545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagtatgtcttcaagctGcatgcccagaaagctggatt	9	10	3	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:9840545G>A	ENST00000261340.7	+	3	242	c.220G>A	c.(220-222)Gca>Aca	p.A74T	CLEC2D_ENST00000543300.1_Missense_Mutation_p.A74T|CLEC2D_ENST00000545918.1_Missense_Mutation_p.A37T|CLEC2D_ENST00000290855.6_Missense_Mutation_p.A74T|CLEC2D_ENST00000261339.6_Missense_Mutation_p.A37T	NM_001004419.4	NP_001004419.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	74					cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						TCTTCAAGCTGCATGCCCAGA	0.328													False	0	False	12:9840545	0	A	9840545	G	A	9840545	3	1	100	1	0	0	0	0	1	0	0	0	3531	1319	46	2	230	2	CLEC2D	12	9840545	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	5457286	9840545	124011350	58	29876											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	100	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08	15557739	25398284	108453611	59	29877											
HOXC10	3226	broad.mit.edu	37	chr12	54379388	54379388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtctgctgcatgtacagCgcagagaagcgggcgaaaag	14	8	1	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:54379388C>T	ENST00000303460.4	+	1	419	c.345C>T	c.(343-345)agC>agT	p.S115S		NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	115					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GCATGTACAGCGCAGAGAAGC	0.622													False	0	False	12:54379388	0	T	54379388	C	T	54379388	2	4	100	1	0	0	0	0	0	0	0	1	7356	767	27	1		1	HOXC10	12	54379388	Silent	SNP	C	TCGA-IB-8127-01A-11D-2396-08	28981104	54379388	79472507	60	29878											
LYZ	4069	broad.mit.edu	37	chr12	69744008	69744008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctactggtgtaatgatgGcaaaaccccaggagcagtta	11	10	0	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:69744008G>A	ENST00000261267.2	+	2	325	c.257G>A	c.(256-258)gGc>gAc	p.G86D	LYZ_ENST00000549690.1_Missense_Mutation_p.G86D|LYZ_ENST00000548839.1_Missense_Mutation_p.G86D	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	86					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TGTAATGATGGCAAAACCCCA	0.413													False	0	False	12:69744008	0	A	69744008	G	A	69744008	3	1	100	1	0	0	0	0	1	0	0	0	9193	1203	42	2	263	2	LYZ	12	69744008	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	15364620	69744008	64107887	61	29879											
BTBD11	121551	broad.mit.edu	37	chr12	108010914	108010914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggctcagtggagcatggcGaggagaactactcggaaaca	14	8	1	1	rs147351765		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:108010914G>A	ENST00000280758.5	+	8	2578	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	BTBD11_ENST00000490090.2_Missense_Mutation_p.E684K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E684K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E221K|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	684						integral to membrane	DNA binding	p.E684K(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGAGCATGGCGAGGAGAACTA	0.607													False	0	False	12:108010914	0	A	108010914	G	A	108010914	3	1	100	1	0	0	0	0	1	0	0	0	1546	1059	37	1	2185	1	BTBD11	12	108010914	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	38266906	108010914	25840981	62	29880											
PCDH9	5101	broad.mit.edu	37	chr13	66879140	66879140	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtagcttcagctaatcCtcggggacccaaaggcccat	9	14	2	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr13:66879140C>A	ENST00000544246.1	-	5	4052	c.3361G>T	c.(3361-3363)Gga>Tga	p.G1121*	PCDH9_ENST00000456367.1_Nonsense_Mutation_p.G1087*|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.G1087*|PCDH9_ENST00000377865.2_Nonsense_Mutation_p.G1121*	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1121					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCAGCTAATCCTCGGGGACCC	0.428													False	0	False	13:66879140	0	A	66879140	C	A	66879140	4	1	100	1	0	0	0	0	0	1	0	0	11586	690	24	3	356	3	PCDH9	13	66879140	Nonsense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08		66879140	48290738	63	29881											
KIAA0586	9786	broad.mit.edu	37	chr14	58927860	58927860	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagaccacagagaccaaaaGtaatagaacgagttaaaggt	9	8	0	3			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr14:58927860G>T	ENST00000423743.3	+	15	2167	c.1909G>T	c.(1909-1911)Gta>Tta	p.V637L	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.V734L|KIAA0586_ENST00000261244.5_Missense_Mutation_p.V605L|KIAA0586_ENST00000556134.1_Missense_Mutation_p.V666L	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	605										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGACCAAAAGTAATAGAACG	0.323													False	0	True	14:58927860	0	T	58927860	G	T	58927860	3	4	100	1	0	0	0	0	1	0	0	0	8236	1029	36	3	1863	3	KIAA0586	14	58927860	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08		58927860	48421680	64	29882											
NRXN3	9369	broad.mit.edu	37	chr14	80328016	80328016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccacagcaaaccccacGgagccgggaatcagacgggt	13	14	1	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr14:80328016G>A	ENST00000281127.7	+	6	1887	c.1008G>A	c.(1006-1008)acG>acA	p.T336T	NRXN3_ENST00000557594.1_Silent_p.T541T|NRXN3_ENST00000335750.5_Silent_p.T965T|NRXN3_ENST00000554719.1_Silent_p.T965T|NRXN3_ENST00000428277.2_Silent_p.T363T|NRXN3_ENST00000556003.1_3'UTR	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	541					angiogenesis|cell adhesion	integral to membrane		p.T965T(1)|p.T363T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAAACCCCACGGAGCCGGGAA	0.597													False	0	False	14:80328016	0	A	80328016	G	A	80328016	2	1	100	1	0	0	0	0	0	0	0	1	10735	1103	39	1		1	NRXN3	14	80328016	Silent	SNP	G	TCGA-IB-8127-01A-11D-2396-08	21400156	80328016	27021524	65	29883											
CYP19A1	0	broad.mit.edu	37	chr15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggataatgtttgtccccTttttcactgggtagccatcg	9	10	2	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr15:51504611T>C	ENST00000396402.1	-	9	1322	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	CYP19A1_ENST00000260433.2_Missense_Mutation_p.K390R|CYP19A1_ENST00000396404.4_Missense_Mutation_p.K390R|CYP19A1_ENST00000559878.1_Missense_Mutation_p.K390R|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	390					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GTTTGTCCCCTTTTTCACTGG	0.413													False	0	True	15:51504611	0	C	51504611	T	C	51504611	3	2	100	1	0	0	0	0	1	0	0	0	4173	1609	56	4	350	4	CYP19A1	15	51504611	Missense_Mutation	SNP	T	TCGA-IB-8127-01A-11D-2396-08		51504611	51026781	66	29884											
CPPED1	55313	broad.mit.edu	37	chr16	12875142	12875142	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctcagttagacggatctcCtgttcccattcgtcaccgcc	8	15	3	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr16:12875142C>A	ENST00000381774.4	-	2	429	c.189G>T	c.(187-189)caG>caT	p.Q63H	CPPED1_ENST00000433677.2_Missense_Mutation_p.Q63H|CPPED1_ENST00000261660.4_Missense_Mutation_p.Q63H	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	63							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GACGGATCTCCTGTTCCCATT	0.567													False	0	False	16:12875142	0	A	12875142	C	A	12875142	3	1	100	1	0	0	0	0	1	0	0	0	3845	680	24	3	767	3	CPPED1	16	12875142	Missense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08		12875142	77479611	67	29885											
C16orf62	57020	broad.mit.edu	37	chr16	19621689	19621689	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgacatgcatgatcagaggGatcggagacccactagtgtc	12	9	1	4			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr16:19621689G>A	ENST00000438132.3	+	12	1290	c.1242G>A	c.(1240-1242)ggG>ggA	p.G414G	C16orf62_ENST00000448695.1_Silent_p.G175G|C16orf62_ENST00000543152.1_Silent_p.G74G|C16orf62_ENST00000542263.1_Silent_p.G414G|C16orf62_ENST00000251143.5_Silent_p.G325G|C16orf62_ENST00000417362.2_Silent_p.G325G	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	325						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGATCAGAGGGATCGGAGACC	0.572													False	0	True	16:19621689	0	A	19621689	G	A	19621689	2	1	100	1	0	0	0	0	0	0	0	1	1835	1161	41	2		2	C16orf62	16	19621689	Silent	SNP	G	TCGA-IB-8127-01A-11D-2396-08	6746547	19621689	70733064	68	29886											
SPNS3	201305	broad.mit.edu	37	chr17	4348390	4348390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggcgaccgacatagccGcaaggctaccatgagcttcg	12	14	0	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:4348390G>A	ENST00000355530.2	+	3	609	c.329G>A	c.(328-330)cGc>cAc	p.R110H	SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	110					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CGACATAGCCGCAAGGCTACC	0.612													False	0	False	17:4348390	0	A	4348390	G	A	4348390	3	1	100	1	0	0	0	0	1	0	0	0	15158	1087	38	1	339	1	SPNS3	17	4348390	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08		4348390	76846820	69	29887											
TNFSF12	8742	broad.mit.edu	37	chr17	7460597	7460597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtcctccctgcggatccGcaccctcccctgggcccatc	10	20	0	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:7460597G>A	ENST00000293825.6	+	7	943	c.680G>A	c.(679-681)cGc>cAc	p.R227H	TNFSF12_ENST00000557233.1_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF12_ENST00000462811.1_3'UTR	NM_003809.2	NP_003800.1			tumor necrosis factor (ligand) superfamily, member 12											central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CTGCGGATCCGCACCCTCCCC	0.677													False	0	False	17:7460597	0	A	7460597	G	A	7460597	3	1	100	1	0	0	0	0	1	0	0	0	16385	1087	38	1	706	1	TNFSF12	17	7460597	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	3112207	7460597	73734613	70	29888											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			False	0	False	17:7577121	0	A	7577121	G	A	7577121	3	1	100	1	0	0	0	0	1	0	0	0	16464	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	116524	7577121	73618089	71	29889											
SPDYE4	388333	broad.mit.edu	37	chr17	8656711	8656711	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctggtatcgaagcttatgGaacaagggtcgctgggagta	15	6	0	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:8656711G>A	ENST00000328794.6	-	5	758	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	194										breast(1)|endometrium(2)|kidney(1)	4						GAAGCTTATGGAACAAGGGTC	0.577													False	0	False	17:8656711	0	A	8656711	G	A	8656711	2	1	100	1	0	0	0	0	0	0	0	1	15113	1165	41	2		2	SPDYE4	17	8656711	Silent	SNP	G	TCGA-IB-8127-01A-11D-2396-08	1079590	8656711	72538499	72	29890											
ERBB2	2064	broad.mit.edu	37	chr17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggaggatgtgcggctcGtacacagggacttggccgct	15	11	0	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:37881332G>A	ENST00000406381.2	+	23	2944	c.2434G>A	c.(2434-2436)Gta>Ata	p.V812I	ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	842	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V842I(6)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			False	0	False	17:37881332	0	A	37881332	G	A	37881332	3	1	100	1	0	0	0	0	1	0	0	0	5238	1145	40	1	2606	1	ERBB2	17	37881332	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	29224621	37881332	43313878	73	29891											
KRTAP9-3	83900	broad.mit.edu	37	chr17	39389179	39389179	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagaccacctgctgcaggacCacttgtttccagcccacctg	9	16	0	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:39389179C>A	ENST00000411528.2	+	1	465	c.426C>A	c.(424-426)acC>acA	p.T142T		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	142	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCAGGACCACTTGTTTCC	0.567													False	0	False	17:39389179	0	A	39389179	C	A	39389179	2	1	100	1	0	0	0	0	0	0	0	1	8625	581	21	3		3	KRTAP9-3	17	39389179	Silent	SNP	C	TCGA-IB-8127-01A-11D-2396-08	1507847	39389179	41806031	74	29892											
RNF43	54894	broad.mit.edu	37	chr17	56437563	56437563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgatgtaaccaggggTccacacagttacgatggaac	12	9	0	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:56437563T>C	ENST00000584437.1	-	7	2854	c.899A>G	c.(898-900)gAc>gGc	p.D300G	RNF43_ENST00000581868.1_Missense_Mutation_p.D173G|RNF43_ENST00000577716.1_Missense_Mutation_p.D300G|RNF43_ENST00000500597.2_Missense_Mutation_p.D259G|RNF43_ENST00000577625.1_Missense_Mutation_p.D173G|RNF43_ENST00000583753.1_Missense_Mutation_p.D259G|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.D300G			Q68DV7	RNF43_HUMAN	ring finger protein 43	300						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAACCAGGGGTCCACACAGTT	0.532													False	0	True	17:56437563	0	C	56437563	T	C	56437563	3	2	100	1	0	0	0	0	1	0	0	0	13574	1667	58	4	1464	4	RNF43	17	56437563	Missense_Mutation	SNP	T	TCGA-IB-8127-01A-11D-2396-08	17048384	56437563	24757647	75	29893											
ZNRF4	148066	broad.mit.edu	37	chr19	5456673	5456673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccattcaagtccagctaCgctcccggaggctggagctg	14	13	1	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:5456673C>T	ENST00000222033.4	+	1	1248	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	391						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		AGTCCAGCTACGCTCCCGGAG	0.657													False	0	False	19:5456673	0	T	5456673	C	T	5456673	3	4	100	1	0	0	0	0	1	0	0	0	18296	536	19	1	1173	1	ZNRF4	19	5456673	Missense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08		5456673	53672310	76	29894											
ZNF493	284443	broad.mit.edu	37	chr19	21587968	21587968	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggatgtggccatagaattctCtctggaggagtggcaatgcc	14	8	2	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:21587968C>T	ENST00000392288.2	+	2	177	c.68C>T	c.(67-69)tCt>tTt	p.S23F	ZNF493_ENST00000355504.4_Intron|ZNF493_ENST00000596302.1_Missense_Mutation_p.S23F|ZNF493_ENST00000594390.1_Missense_Mutation_p.S23F|ZNF493_ENST00000339914.6_Missense_Mutation_p.S23F|CTD-2561J22.3_ENST00000600810.1_Missense_Mutation_p.S3F	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAGAATTCTCTCTGGAGGAG	0.448													False	0	True	19:21587968	0	T	21587968	C	T	21587968	3	4	100	1	0	0	0	0	1	0	0	0	18027	913	32	2	74	2	ZNF493	19	21587968	Missense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08	16131295	21587968	37541015	77	29895											
ATP1A3	478	broad.mit.edu	37	chr19	42480634	42480634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgggcgaagacgatctcGgtgtgattctgcaggatctc	15	9	3	2			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:42480634G>A	ENST00000545399.1	-	15	2220	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	ATP1A3_ENST00000543770.1_Silent_p.T687T|ATP1A3_ENST00000302102.5_Silent_p.T676T|ATP1A3_ENST00000602133.1_Silent_p.T646T	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	676					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGACGATCTCGGTGTGATTCT	0.622													False	0	False	19:42480634	0	A	42480634	G	A	42480634	2	1	100	1	0	0	0	0	0	0	0	1	1134	1103	39	1		1	ATP1A3	19	42480634	Silent	SNP	G	TCGA-IB-8127-01A-11D-2396-08	20892666	42480634	16648349	78	29896											
LILRA2	0	broad.mit.edu	37	chr19	55086976	55086976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgcacacaacctctcctcCgagtggtcggcccccagtga	10	16	1	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:55086976C>T	ENST00000251377.3	+	6	1042	c.909C>T	c.(907-909)tcC>tcT	p.S303S	LILRA2_ENST00000251376.3_Silent_p.S303S|LILRA2_ENST00000391738.3_Silent_p.S303S|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.S291S|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.S303S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACCTCTCCTCCGAGTGGTCGG	0.672													False	0	False	19:55086976	0	T	55086976	C	T	55086976	2	4	100	1	0	0	0	0	0	0	0	1	8837	639	23	1		1	LILRA2	19	55086976	Silent	SNP	C	TCGA-IB-8127-01A-11D-2396-08	12606342	55086976	4042007	79	29897											
NLRP2	55655	broad.mit.edu	37	chr19	55494630	55494632	+	In_Frame_Del	DEL	GAA	GAA	-													acaccctggagaaggaggagGaagaggatagggacggccac					rs3745905	byFrequency	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:55494630_55494632delGAA	ENST00000543010.1	+	6	1707_1709	c.1564_1566delGAA	c.(1564-1566)gaadel	p.E523del	NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del|NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	523	NACHT.|Poly-Glu.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAGGAGGAGGAAGAGGATAGGG	0.567													False	1	True	19:55494630	0	-	55494632	GAA	-	55494630	7	5	100	1	0	1	0	1	0	0	0	0	10545	1175	41	0	1582	0	NLRP2	19	55494630	In_Frame_Del	DEL	GAA	TCGA-IB-8127-01A-11D-2396-08	407654	55494630	3634353	80	29898											
C20orf112	140688	broad.mit.edu	37	chr20	31043974	31043974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccgcagcccgtcggcacCgcagccatccgaggggtagg	15	16	0	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:31043974C>T	ENST00000359676.5	-	3	476	c.334G>A	c.(334-336)Ggt>Agt	p.G112S	C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	112										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CCGTCGGCACCGCAGCCATCC	0.652													False	0	False	20:31043974	0	T	31043974	C	T	31043974	3	4	100	1	0	0	0	0	1	0	0	0	2097	652	23	1	1000	1	C20orf112	20	31043974	Missense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08		31043974	31981546	81	29899											
KCNB1	3745	broad.mit.edu	37	chr20	48098546	48098546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgaactcctcgccttcccGctcccgtagggtctcggcct	9	18	1	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:48098546G>A	ENST00000371741.4	-	1	638	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	158					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCGCCTTCCCGCTCCCGTAGG	0.582													False	0	True	20:48098546	0	A	48098546	G	A	48098546	3	1	100	1	0	0	0	0	1	0	0	0	8062	1086	38	1	2112	1	KCNB1	20	48098546	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08	17054572	48098546	14926974	82	29900											
BIRC7	79444	broad.mit.edu	37	chr20	61867525	61867525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagccggtgatggtcccaCgcaggagcgctgtggacccc	16	14	0	1			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:61867525C>T	ENST00000217169.3	+	1	291	c.77C>T	c.(76-78)aCg>aTg	p.T26M	BIRC7_ENST00000342412.6_Missense_Mutation_p.T26M	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	26					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GATGGTCCCACGCAGGAGCGC	0.662													False	0	False	20:61867525	0	T	61867525	C	T	61867525	3	4	100	1	0	0	0	0	1	0	0	0	1444	536	19	1	79	1	BIRC7	20	61867525	Missense_Mutation	SNP	C	TCGA-IB-8127-01A-11D-2396-08	13768979	61867525	1157995	83	29901											
GGT1	2678	broad.mit.edu	37	chr22	25011027	25011027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaagctgaggtcatcaaCgcccgcgaggtggcccccag	14	13	2	1	rs112364951	by1000genomes	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr22:25011027C>T	ENST00000400382.1	+	7	1070	c.315C>T	c.(313-315)aaC>aaT	p.N105N	GGT1_ENST00000406383.2_Silent_p.N105N|GGT1_ENST00000400380.1_Silent_p.N105N|GGT1_ENST00000400383.1_Silent_p.N105N|GGT1_ENST00000248923.4_Silent_p.N105N			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	105					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	AGGTCATCAACGCCCGCGAGG	0.637													False	0	False	22:25011027	0	T	25011027	C	T	25011027	2	4	100	1	0	0	0	0	0	0	0	1	6406	535	19	1		1	GGT1	22	25011027	Silent	SNP	C	TCGA-IB-8127-01A-11D-2396-08		25011027	26293539	84	29902											
SERPINA7	6906	broad.mit.edu	37	chrX	105277592	105277592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctatcaatttggataatagGgtgtaggaaagtgttttcag	11	3	3	0			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chrX:105277592G>A	ENST00000327674.4	-	4	1482	c.1147C>T	c.(1147-1149)Cct>Tct	p.P383S	SERPINA7_ENST00000372563.1_Missense_Mutation_p.P383S			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	383			P -> L (in TBG deficiency; Kumamoto).		regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGATAATAGGGTGTAGGAAA	0.438													False	0	True	X:105277592	0	A	105277592	G	A	105277592	3	1	100	1	0	0	0	0	1	0	0	0	14175	1232	43	2	104	2	SERPINA7	23	105277592	Missense_Mutation	SNP	G	TCGA-IB-8127-01A-11D-2396-08		105277592	49992968	85	29903											
CSMD2	114784	broad.mit.edu	37	chr1	34011733	34011733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcttcacagctgaagcGcatcacagtgcctggatcaa	10	13	3	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:34011733G>A	ENST00000373381.4	-	57	9180	c.9004C>T	c.(9004-9006)Cgc>Tgc	p.R3002C		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2975	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGCTGAAGCGCATCACAGTG	0.612													False	0	False	1:34011733	0	A	34011733	G	A	34011733	3	1	101	1	0	0	0	0	1	0	0	0	3970	1087	38	1	1947	1	CSMD2	1	34011733	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		34011733	215238888	1	29904											
C1orf122	127687	broad.mit.edu	37	chr1	38274791	38274791	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctccctccccagggccGgtggctggactctgaacaac	10	16	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:38274791G>A	ENST00000446260.2	+	2	465	c.465G>A	c.(463-465)ccG>ccA	p.P155P	C1orf122_ENST00000373042.4_3'UTR|C1orf122_ENST00000468084.1_3'UTR|C1orf122_ENST00000373043.1_3'UTR			Q6ZSJ8	CA122_HUMAN	chromosome 1 open reading frame 122	0										kidney(2)|lung(2)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0393)				CCCCAGGGCCGGTGGCTGGAC	0.617													False	0	False	1:38274791	0	A	38274791	G	A	38274791	2	1	101	1	0	0	0	0	0	0	0	1	2005	1131	39	1		1	C1orf122	1	38274791	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	4263058	38274791	210975830	2	29905											
SSBP3	23648	broad.mit.edu	37	chr1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgggtggtggtctcatgCcgctgccgtaattctgcaac	13	10	2	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	222	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGGTCTCATGCCGCTGCCGTA	0.562													False	0	False	1:54708959	0	T	54708959	C	T	54708959	3	4	101	1	0	0	0	0	1	0	0	0	15263	739	26	2	537	2	SSBP3	1	54708959	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	16434168	54708959	194541662	3	29906											
WLS	79971	broad.mit.edu	37	chr1	68615942	68615942	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagatgccctgtcggatgtCaccaaacagcagcatccagg	11	12	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:68615942C>T	ENST00000262348.4	-	6	1154	c.901G>A	c.(901-903)Gac>Aac	p.D301N	WLS_ENST00000491811.1_5'UTR|WLS_ENST00000354777.2_Missense_Mutation_p.D299N|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.D210N|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.D301N	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	301					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TGTCGGATGTCACCAAACAGC	0.512													False	0	False	1:68615942	0	T	68615942	C	T	68615942	3	4	101	1	0	0	0	0	1	0	0	0	17460	826	29	2	878	2	WLS	1	68615942	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	13906983	68615942	180634679	4	29907											
PSMB4	5692	broad.mit.edu	37	chr1	151372521	151372521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcggagtggtgattgccGcagacatgctgggatcctac	16	9	0	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:151372521G>A	ENST00000290541.6	+	2	259	c.205G>A	c.(205-207)Gca>Aca	p.A69T		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	69					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGATTGCCGCAGACATGCT	0.582													False	0	False	1:151372521	0	A	151372521	G	A	151372521	3	1	101	1	0	0	0	0	1	0	0	0	12755	1087	38	1	211	1	PSMB4	1	151372521	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	82756579	151372521	97878100	5	29908											
FLG2	388698	broad.mit.edu	37	chr1	152327955	152327955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaactgtgttggccataGctagactgacctgatctaga	10	10	1	5			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517													False	0	False	1:152327955	0	A	152327955	G	A	152327955	2	1	101	1	0	0	0	0	0	0	0	1	5963	962	34	2		2	FLG2	1	152327955	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	955434	152327955	96922666	6	29909											
DNMT3A	1788	broad.mit.edu	37	chr2	25505560	25505560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatcaccgcagggtccttTggcgtgtcaccgctttccac	11	14	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:25505560T>C	ENST00000264709.3	-	4	535	c.198A>G	c.(196-198)ccA>ccG	p.P66P	DNMT3A_ENST00000406659.3_Silent_p.P66P|DNMT3A_ENST00000321117.5_Silent_p.P66P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	66					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGTCCTTTGGCGTGTCAC	0.542			"Mis, F, N, S"		AML								False	0	True	2:25505560	0	C	25505560	T	C	25505560	2	2	101	1	0	0	0	0	0	0	0	1	4706	1799	63	4		4	DNMT3A	2	25505560	Silent	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08		25505560	217693813	7	29910											
NRBP1	29959	broad.mit.edu	37	chr2	27664633	27664633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaacaagttcaattttgCcaggaacagtaccctcaact	6	11	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:27664633C>T	ENST00000233557.3	+	19	2394	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	NRBP1_ENST00000379863.3_Missense_Mutation_p.A529V|NRBP1_ENST00000379852.3_Missense_Mutation_p.A521V			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	521					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	p.A521V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TTCAATTTTGCCAGGAACAGT	0.572													False	0	False	2:27664633	0	T	27664633	C	T	27664633	3	4	101	1	0	0	0	0	1	0	0	0	10710	739	26	2	1628	2	NRBP1	2	27664633	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	2159073	27664633	215534740	8	29911											
RGPD1	400966	broad.mit.edu	37	chr2	87140987	87140987	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcgatgaggcgcagcaaGgcctacggggagcggtacct	18	10	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:87140987G>A	ENST00000398193.3	+	1	53	c.15G>A	c.(13-15)aaG>aaA	p.K5K	RGPD1_ENST00000409776.2_Intron			Q68DN6	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1	0					intracellular transport		binding			breast(1)|endometrium(1)|lung(1)	3						GGCGCAGCAAGGCCTACGGGG	0.672													False	0	False	2:87140987	0	A	87140987	G	A	87140987	2	1	101	1	0	0	0	0	0	0	0	1	13364	991	35	2		2	RGPD1	2	87140987	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	59476354	87140987	156058386	9	29912											
RGPD4	285190	broad.mit.edu	37	chr2	108475980	108475980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaaatcttggtgggatgCggtttgtactctgattcaca	10	7	3	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:108475980C>T	ENST00000408999.3	+	11	1681	c.1604C>T	c.(1603-1605)gCg>gTg	p.A535V	RGPD4_ENST00000354986.4_Missense_Mutation_p.A535V	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	535					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGGTGGGATGCGGTTTGTACT	0.403													False	0	False	2:108475980	0	T	108475980	C	T	108475980	3	4	101	1	0	0	0	0	1	0	0	0	13367	768	27	1	1646	1	RGPD4	2	108475980	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	21334993	108475980	134723393	10	29913											
RFTN2	130132	broad.mit.edu	37	chr2	198498522	198498522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactttcatgatgaagttctTcctcaattccgctttcagat	5	11	4	3			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:198498522T>C	ENST00000295049.4	-	4	1174	c.638A>G	c.(637-639)gAa>gGa	p.E213G		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ATGAAGTTCTTCCTCAATTCC	0.408													False	0	False	2:198498522	0	C	198498522	T	C	198498522	3	2	101	1	0	0	0	0	1	0	0	0	13338	1783	62	4	891	4	RFTN2	2	198498522	Missense_Mutation	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	90022542	198498522	44700851	11	29914											
CLK1	1195	broad.mit.edu	37	chr2	201724929	201724929	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcctggttcttttccttcGgtgactcttctggaaacgtc	8	12	3	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:201724929G>T	ENST00000434813.2	-	4	860	c.526C>A	c.(526-528)Cga>Aga	p.R176R	CLK1_ENST00000321356.4_Silent_p.R134R	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	134	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTTTTCCTTCGGTGACTCTTC	0.463													False	0	False	2:201724929	0	T	201724929	G	T	201724929	2	4	101	1	0	0	0	0	0	0	0	1	3559	1124	39	3		3	CLK1	2	201724929	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	3226407	201724929	41474444	12	29915											
ABCA12	26154	broad.mit.edu	37	chr2	215807679	215807679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctgcaaagatccaataCattgaaactttccattcacc	5	11	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:215807679C>T	ENST00000272895.7	-	50	7625	c.7406G>A	c.(7405-7407)tGt>tAt	p.C2469Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.C2151Y|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2469	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGATCCAATACATTGAAACTT	0.393													False	0	False	2:215807679	0	T	215807679	C	T	215807679	3	4	101	1	0	0	0	0	1	0	0	0	30	478	17	2	397	2	ABCA12	2	215807679	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	14082750	215807679	27391694	13	29916											
SLC6A1	6529	broad.mit.edu	37	chr3	11067472	11067472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctataggtgtggctggatgCggcaacccagatcttcttct	11	11	3	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:11067472C>T	ENST00000287766.4	+	9	1284	c.863C>T	c.(862-864)gCg>gTg	p.A288V	SLC6A1_ENST00000536032.1_Missense_Mutation_p.A110V	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	288					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TGGCTGGATGCGGCAACCCAG	0.517													False	0	False	3:11067472	0	T	11067472	C	T	11067472	3	4	101	1	0	0	0	0	1	0	0	0	14753	768	27	1	889	1	SLC6A1	3	11067472	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		11067472	186954958	14	29917											
TGFBR2	7048	broad.mit.edu	37	chr3	30715708	30715708	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccatggctctggtgctctggGaaatgacatctcgctgtaat	11	10	3	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:30715708G>T	ENST00000295754.5	+	5	1748	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E481*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	456	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGTGCTCTGGGAAATGACATC	0.458													False	0	True	3:30715708	0	T	30715708	G	T	30715708	4	4	101	1	0	0	0	0	0	1	0	0	15904	1175	41	3	1463	3	TGFBR2	3	30715708	Nonsense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	19648236	30715708	167306722	15	29918											
DHX30	22907	broad.mit.edu	37	chr3	47889357	47889358	+	Frame_Shift_Del	DEL	AT	AT	-													agattgtcttggccaccaacAttgctgagacttccatcaca							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:47889357_47889358delAT	ENST00000348968.4	+	15	2533_2534	c.2113_2114delAT	c.(2113-2115)attfs	p.I705fs	DHX30_ENST00000446256.2_Frame_Shift_Del_p.I694fs|DHX30_ENST00000445061.1_Frame_Shift_Del_p.I733fs|DHX30_ENST00000457607.1_Frame_Shift_Del_p.I761fs			Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	733	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGCCACCAACATTGCTGAGACT	0.535													False	1	False	3:47889357	0	-	47889358	AT	-	47889357	7	5	101	1	0	1	0	1	0	0	0	0	4534	217	8	0	2254	0	DHX30	3	47889357	Frame_Shift_Del	DEL	AT	TCGA-IB-A5SO-01A-11D-A32N-08	17173649	47889357	150133073	16	29919											
CELSR3	1951	broad.mit.edu	37	chr3	48677390	48677390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctcgtgaggggtgccGgctaggcacctggtccagct	16	12	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:48677390G>A	ENST00000544264.1	-	35	9923	c.9643C>T	c.(9643-9645)Cgg>Tgg	p.R3215W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R3210W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3210					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGGGGTGCCGGCTAGGCACC	0.657													False	0	False	3:48677390	0	A	48677390	G	A	48677390	3	1	101	1	0	0	0	0	1	0	0	0	3246	1115	39	1	318	1	CELSR3	3	48677390	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	788033	48677390	149345040	17	29920											
RBM6	10180	broad.mit.edu	37	chr3	50085685	50085685	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtctttacagggaactcTaatgatccaggacaaagaag	9	7	2	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:50085685T>G	ENST00000443081.1	+	7	2088	c.1169T>G	c.(1168-1170)cTa>cGa	p.L390R	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000442092.1_5'UTR|RBM6_ENST00000422955.1_5'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.L522R			P78332	RBM6_HUMAN	RNA binding motif protein 6	522					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CAGGGAACTCTAATGATCCAG	0.433													False	0	False	3:50085685	0	G	50085685	T	G	50085685	3	3	101	1	0	0	0	0	1	0	0	0	13223	1522	53	4	1587	4	RBM6	3	50085685	Missense_Mutation	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	1408295	50085685	147936745	18	29921											
GPR128	84873	broad.mit.edu	37	chr3	100365497	100365497	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgggacacatatggctgtCaaaaagacaagggcactgat	11	8	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:100365497C>T	ENST00000273352.3	+	10	1463	c.1195C>T	c.(1195-1197)Caa>Taa	p.Q399*	GPR128_ENST00000475887.1_Nonsense_Mutation_p.Q104*	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	399	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATATGGCTGTCAAAAAGACAA	0.398													False	0	True	3:100365497	0	T	100365497	C	T	100365497	4	4	101	1	0	0	0	0	0	1	0	0	6687	827	29	2	1233	2	GPR128	3	100365497	Nonsense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	50279812	100365497	97656933	19	29922											
MCM2	4171	broad.mit.edu	37	chr3	127325138	127325138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaaccacatccatgtccGcatctcccacctgcctctgg	5	20	2	0	rs148533176		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:127325138G>A	ENST00000265056.7	+	5	1095	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	284					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						ATCCATGTCCGCATCTCCCAC	0.632													False	0	False	3:127325138	0	A	127325138	G	A	127325138	3	1	101	1	0	0	0	0	1	0	0	0	9453	1087	38	1	869	1	MCM2	3	127325138	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	26959641	127325138	70697292	20	29923											
SORCS2	57537	broad.mit.edu	37	chr4	7716916	7716916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctcctcccagcgactaCggatttgagcgctcctcctc	7	18	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:7716916C>T	ENST00000507866.2	+	17	2239	c.2130C>T	c.(2128-2130)taC>taT	p.Y710Y	SORCS2_ENST00000329016.9_Silent_p.Y538Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	710						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCAGCGACTACGGATTTGAGC	0.597													False	0	False	4:7716916	0	T	7716916	C	T	7716916	2	4	101	1	0	0	0	0	0	0	0	1	15011	547	19	1		1	SORCS2	4	7716916	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		7716916	183437360	21	29924											
PPP3CA	5530	broad.mit.edu	37	chr4	101947138	101947138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcatctctgcgaggcgGcatcctctcattaattcggt	10	12	2	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:101947138G>A	ENST00000394854.3	-	14	2133	c.1450C>T	c.(1450-1452)Ccg>Tcg	p.P484S	PPP3CA_ENST00000523694.2_Missense_Mutation_p.P417S|PPP3CA_ENST00000323055.6_Missense_Mutation_p.P432S|PPP3CA_ENST00000394853.4_Missense_Mutation_p.P474S|PPP3CA_ENST00000507176.1_Missense_Mutation_p.P386S|PPP3CA_ENST00000512215.1_Missense_Mutation_p.P252S	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	484	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTGCGAGGCGGCATCCTCTCA	0.468													False	0	False	4:101947138	0	A	101947138	G	A	101947138	3	1	101	1	0	0	0	0	1	0	0	0	12471	1203	42	2	119	2	PPP3CA	4	101947138	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	94230222	101947138	89207138	22	29925											
ANK2	287	broad.mit.edu	37	chr4	114179218	114179218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcacagaatggttttactCcactgcacattgcctgcaag	8	11	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:114179218C>T	ENST00000357077.4	+	12	1254	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	ANK2_ENST00000394537.3_Missense_Mutation_p.P401S|ANK2_ENST00000506722.1_Missense_Mutation_p.P380S|ANK2_ENST00000264366.6_Missense_Mutation_p.P401S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	401					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGTTTTACTCCACTGCACAT	0.398													False	0	False	4:114179218	0	T	114179218	C	T	114179218	3	4	101	1	0	0	0	0	1	0	0	0	621	855	30	2	1272	2	ANK2	4	114179218	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	12232080	114179218	76975058	23	29926											
NAF1	92345	broad.mit.edu	37	chr4	164050411	164050411	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggccctggaaaatcctcGtgtgaattctctgttacgat	9	10	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:164050411G>A	ENST00000274054.2	-	8	1316	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	375					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GAAAATCCTCGTGTGAATTCT	0.448													False	0	False	4:164050411	0	A	164050411	G	A	164050411	4	1	101	1	0	0	0	0	0	1	0	0	10207	1153	40	1	506	1	NAF1	4	164050411	Nonsense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	49871193	164050411	27103865	24	29927											
CCDC110	256309	broad.mit.edu	37	chr4	186379493	186379493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattttctatgcttcttaCgtaattttctaaaagtattt	3	6	4	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:186379493C>T	ENST00000307588.3	-	6	2323	c.2248G>A	c.(2248-2250)Gta>Ata	p.V750I	CCDC110_ENST00000510617.1_Missense_Mutation_p.V750I|CCDC110_ENST00000393540.3_Missense_Mutation_p.V713I	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	750						nucleus		p.V750I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATGCTTCTTACGTAATTTTCT	0.284													False	0	False	4:186379493	0	T	186379493	C	T	186379493	3	4	101	1	0	0	0	0	1	0	0	0	2767	536	19	1	261	1	CCDC110	4	186379493	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	22329082	186379493	4774783	25	29928											
CCDC110	256309	broad.mit.edu	37	chr4	186380643	186380644	+	Frame_Shift_Ins	INS	-	-	GAAAATGAGAAAACTTCCAAAGTTAATTCCG													attttaaatctgtaatatttINSttgccagtgatgggaatttc							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:186380643_186380644insGAAAATGAGAAAACTTCCAAAGTTAATTCCG	ENST00000510617.1	-	6	1157_1158	c.1097_1098insCGGAATTAACTTTGGAAGTTTTCTCATTTTC	c.(1096-1098)aaafs	p.K366fs	CCDC110_ENST00000307588.3_Frame_Shift_Ins_p.K366fs|CCDC110_ENST00000393540.3_Frame_Shift_Ins_p.K329fs			Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	366						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CTGTAATATTTTTGCCAGTGAT	0.327													False	0	True	4:186380643	0	GAAAATGAGAAAACTTCCAAAGTTAATTCCG	186380644	-	GAAAATGAGAAAACTTCCAAAGTTAATTCCG	186380643	7	5	101	1	0	1	1	0	0	0	0	0	2767	1838	64	0	1411	0	CCDC110	4	186380643	Frame_Shift_Ins	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08	1150	186380643	4773633	26	29929											
UGT3A1	133688	broad.mit.edu	37	chr5	35954469	35954469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcatagggcttgaggtgCgtcgctcccccagtctggag	15	11	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr5:35954469C>T	ENST00000274278.3	-	7	1764	c.1407G>A	c.(1405-1407)acG>acA	p.T469T		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	469						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTGAGGTGCGTCGCTCCCC	0.602													False	0	False	5:35954469	0	T	35954469	C	T	35954469	2	4	101	1	0	0	0	0	0	0	0	1	17047	755	27	1		1	UGT3A1	5	35954469	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		35954469	144960791	27	29930											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	101	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-IB-A5SO-01A-11D-A32N-08	42655975	78610444	102304816	28	29931											
FAM71B	153745	broad.mit.edu	37	chr5	156590199	156590199	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agactggcggcccccgccatCgaggtggaagtaccttccaa	12	14	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr5:156590199C>T	ENST00000302938.4	-	2	1172	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	359						nucleus		p.S359S(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCCCGCCATCGAGGTGGAAG	0.572													False	0	False	5:156590199	0	T	156590199	C	T	156590199	2	4	101	1	0	0	0	0	0	0	0	1	5648	871	31	1		1	FAM71B	5	156590199	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	77979755	156590199	24325061	29	29932											
GRIK2	2898	broad.mit.edu	37	chr6	102337618	102337618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaataagtattttgtaccGcaagcccaatggtacaaacc	8	9	0	0	rs141189363	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:102337618G>A	ENST00000369138.1	+	11	2118	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	GRIK2_ENST00000369137.3_Missense_Mutation_p.R543H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R543H|GRIK2_ENST00000421544.1_Missense_Mutation_p.R543H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R543H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R494H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	543					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATTTTGTACCGCAAGCCCAAT	0.468													False	0	False	6:102337618	0	A	102337618	G	A	102337618	3	1	101	1	0	0	0	0	1	0	0	0	6821	1087	38	1	1670	1	GRIK2	6	102337618	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		102337618	68777449	30	29933											
PTPRK	5796	broad.mit.edu	37	chr6	128306921	128306921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgataacttgactcgccGgataaaggaaagcagccctg	11	9	0	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:128306921G>A	ENST00000368227.3	-	23	3613	c.3247C>T	c.(3247-3249)Cgg>Tgg	p.R1083W	PTPRK_ENST00000368226.4_Missense_Mutation_p.R1066W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1088W|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1065W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1098W|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1084W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1072W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1065	Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTGACTCGCCGGATAAAGGAA	0.498													False	0	False	6:128306921	0	A	128306921	G	A	128306921	3	1	101	1	0	0	0	0	1	0	0	0	12884	1115	39	1	1162	1	PTPRK	6	128306921	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	25969303	128306921	42808146	31	29934											
MOXD1	26002	broad.mit.edu	37	chr6	132649632	132649632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttggggtgatagcactcGtggccggactccagaacgct	14	10	0	2	rs145443994		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:132649632G>A	ENST00000367963.3	-	5	883	c.765C>T	c.(763-765)caC>caT	p.H255H	MOXD1_ENST00000336749.3_Silent_p.H187H	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	255					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GATAGCACTCGTGGCCGGACT	0.517													False	0	False	6:132649632	0	A	132649632	G	A	132649632	2	1	101	1	0	0	0	0	0	0	0	1	9787	1136	40	1		1	MOXD1	6	132649632	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	4342711	132649632	38465435	32	29935											
SASH1	23328	broad.mit.edu	37	chr6	148853965	148853965	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaccactgattcctcaAccagcaaccgggaaagcgtc	9	14	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:148853965A>G	ENST00000367467.3	+	14	2072	c.1597A>G	c.(1597-1599)Acc>Gcc	p.T533A		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	533							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGATTCCTCAACCAGCAACCG	0.557													False	0	False	6:148853965	0	G	148853965	A	G	148853965	3	3	101	1	0	0	0	0	1	0	0	0	13928	43	2	4	1651	4	SASH1	6	148853965	Missense_Mutation	SNP	A	TCGA-IB-A5SO-01A-11D-A32N-08	16204333	148853965	22261102	33	29936											
SYNE1	23345	broad.mit.edu	37	chr6	152457816	152457816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcagagagcacactcgGtcccagcgcccattcatctg	9	16	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:152457816G>A	ENST00000367255.5	-	141	26197	c.25596C>T	c.(25594-25596)gaC>gaT	p.D8532D	SYNE1_ENST00000265368.4_Silent_p.D8532D|SYNE1_ENST00000539504.1_Silent_p.D687D|SYNE1_ENST00000356820.4_Silent_p.D3056D|SYNE1_ENST00000341594.5_Silent_p.D8144D|SYNE1_ENST00000423061.1_Silent_p.D8484D|SYNE1_ENST00000448038.1_Silent_p.D8484D|SYNE1_ENST00000354674.4_Silent_p.D710D|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8532					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCACACTCGGTCCCAGCGCC	0.612										HNSCC(10;0.0054)			False	0	False	6:152457816	0	A	152457816	G	A	152457816	2	1	101	1	0	0	0	0	0	0	0	1	15527	1252	44	2		2	SYNE1	6	152457816	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	3603851	152457816	18657251	34	29937											
MIOS	54468	broad.mit.edu	37	chr7	7625382	7625382	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagctaaataacccgtatttGtgtgtcatgtttgcatttct	7	8	2	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:7625382G>C	ENST00000340080.4	+	7	2185	c.1764G>C	c.(1762-1764)ttG>ttC	p.L588F	MIOS_ENST00000405785.1_Missense_Mutation_p.L588F	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	588										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCCGTATTTGTGTGTCATGT	0.383													False	0	True	7:7625382	0	C	7625382	G	C	7625382	3	2	101	1	0	0	0	0	1	0	0	0	9656	1368	48	5	1778	5	MIOS	7	7625382	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		7625382	151513281	35	29938											
STK31	56164	broad.mit.edu	37	chr7	23792437	23792437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagctaagatggaaatActgaaagaaatgaggtaggt	13	4	0	4			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:23792437A>G	ENST00000354639.3	+	9	1514	c.1050A>G	c.(1048-1050)atA>atG	p.I350M	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.I373M|STK31_ENST00000428484.1_Missense_Mutation_p.I350M|STK31_ENST00000433467.2_Missense_Mutation_p.I373M	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	373							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGATGGAAATACTGAAAGAAA	0.333													False	0	False	7:23792437	0	G	23792437	A	G	23792437	3	3	101	1	0	0	0	0	1	0	0	0	15378	381	14	4	1153	4	STK31	7	23792437	Missense_Mutation	SNP	A	TCGA-IB-A5SO-01A-11D-A32N-08	16167055	23792437	135346226	36	29939											
TAX1BP1	8887	broad.mit.edu	37	chr7	27825110	27825111	+	Splice_Site	INS	-	-	TTTAAAGTTTTAAAATTTTTATTG													gaaaaggaactttataaggtINSaatttattttttaccatatc							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:27825110_27825111insTTTAAAGTTTTAAAATTTTTATTG	ENST00000396319.2	+	7	940		c.e7+2		TAX1BP1_ENST00000265393.6_Splice_Site|TAX1BP1_ENST00000433216.2_Splice_Site|TAX1BP1_ENST00000409980.1_Splice_Site|TAX1BP1_ENST00000543117.1_Splice_Site	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1						anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CTTTATAAGGTAATTTATTTTT	0.376													False	0	True	7:27825110	0	TTTAAAGTTTTAAAATTTTTATTG	27825111	-	TTTAAAGTTTTAAAATTTTTATTG	27825110	8	5	101	1	0	1	1	0	0	0	1	0	15676	1652	57	0	876	0	TAX1BP1	7	27825110	Splice_Site	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08	4032673	27825110	131313553	37	29940											
AUTS2	26053	broad.mit.edu	37	chr7	69583117	69583117	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctcttttcttttgcctttaGctcaagccaggacagaacag	7	11	3	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:69583117G>C	ENST00000342771.4	+	3	843		c.e3-1		AUTS2_ENST00000403018.2_Splice_Site|AUTS2_ENST00000406775.2_Splice_Site	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2											breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TTTGCCTTTAGCTCAAGCCAG	0.498													False	0	False	7:69583117	0	C	69583117	G	C	69583117	5	2	101	1	0	0	0	0	0	0	1	0	1229	985	34	5	532	5	AUTS2	7	69583117	Splice_Site	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	41758007	69583117	89555546	38	29941											
COG5	0	broad.mit.edu	37	chr7	107002815	107002815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggtccagaatgaggcacGcaaagctgcagtatttcctg	11	9	0	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:107002815G>A	ENST00000393603.2	-	9	1250	c.979C>T	c.(979-981)Cgt>Tgt	p.R327C	COG5_ENST00000297135.3_Missense_Mutation_p.R327C|COG5_ENST00000347053.3_Missense_Mutation_p.R327C	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	327					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AATGAGGCACGCAAAGCTGCA	0.398													False	0	False	7:107002815	0	A	107002815	G	A	107002815	3	1	101	1	0	0	0	0	1	0	0	0	3684	1087	38	1	1663	1	COG5	7	107002815	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	37419698	107002815	52135848	39	29942											
CPA5	93979	broad.mit.edu	37	chr7	130008354	130008354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtatggcttcctgctgccGgccacacagatcatccccac	8	17	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:130008354G>A	ENST00000431780.2	+	11	1587	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	CPA5_ENST00000466363.2_Silent_p.P409P|CPA5_ENST00000355388.3_Silent_p.P409P|CPA5_ENST00000461828.1_Silent_p.P409P|CPA5_ENST00000485477.1_Silent_p.P409P|CPA5_ENST00000474905.1_Silent_p.P409P|CPA5_ENST00000393213.3_Silent_p.P409P	NM_001127442.1	NP_001120914.1	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	0					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TCCTGCTGCCGGCCACACAGA	0.612													False	0	False	7:130008354	0	A	130008354	G	A	130008354	3	1	101	1	0	0	0	0	1	0	0	0	3816	1116	39	1	1269	1	CPA5	7	130008354	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	23005539	130008354	29130309	40	29943											
RP1	6101	broad.mit.edu	37	chr8	55539165	55539165	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgattttcctgaggctattgCtcatcattcaattcaaaatt	5	8	4	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:55539165C>G	ENST00000220676.1	+	4	2871	c.2723C>G	c.(2722-2724)gCt>gGt	p.A908G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	908					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGGCTATTGCTCATCATTCA	0.328													False	0	False	8:55539165	0	G	55539165	C	G	55539165	3	3	101	1	0	0	0	0	1	0	0	0	13611	797	28	5	2733	5	RP1	8	55539165	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		55539165	90824857	41	29944											
VPS13B	157680	broad.mit.edu	37	chr8	100833605	100833605	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaactggtccataacctgacAtctccaaagtggaaagatgg	9	9	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:100833605A>T	ENST00000358544.2	+	50	9264	c.9153A>T	c.(9151-9153)acA>acT	p.T3051T	VPS13B_ENST00000357162.2_Silent_p.T3026T|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3051					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATAACCTGACATCTCCAAAGT	0.398													False	0	False	8:100833605	0	T	100833605	A	T	100833605	2	4	101	1	0	0	0	0	0	0	0	1	17274	204	8	5		5	VPS13B	8	100833605	Silent	SNP	A	TCGA-IB-A5SO-01A-11D-A32N-08	45294440	100833605	45530417	42	29945											
MLLT3	4300	broad.mit.edu	37	chr9	20414337	20414337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgctGctgctactgctgctgctgct	12	14	0	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:20414337G>A	ENST00000380338.4	-	5	793	c.507C>T	c.(505-507)agC>agT	p.S169S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	169	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctactgc	0.542			T	MLL	ALL								False	0	True	9:20414337	0	A	20414337	G	A	20414337	2	1	101	1	0	0	0	0	0	0	0	1	9695	1310	46	2		2	MLLT3	9	20414337	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		20414337	120799094	43	29946											
CBWD3	445571	broad.mit.edu	37	chr9	70871889	70871889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattagggagtgatatttaCcttgatggtaagttaaaaaa	10	2	0	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294													False	0	False	9:70871889	0	T	70871889	C	T	70871889	2	4	101	1	0	0	0	0	0	0	0	1	2734	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	50457552	70871889	70341542	44	29947											
OSTF1	26578	broad.mit.edu	37	chr9	77752511	77752511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagggttatgcagatatcGtccagttgcttctggcaaaa	12	7	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:77752511G>A	ENST00000346234.6	+	8	616	c.466G>A	c.(466-468)Gtc>Atc	p.V156I		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	156					ossification|signal transduction	cytoplasm	identical protein binding			endometrium(1)|skin(1)	2						TGCAGATATCGTCCAGTTGCT	0.398													False	0	False	9:77752511	0	A	77752511	G	A	77752511	3	1	101	1	0	0	0	0	1	0	0	0	11365	1145	40	1	496	1	OSTF1	9	77752511	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	6880622	77752511	63460920	45	29948											
TGFBR1	7046	broad.mit.edu	37	chr9	101900330	101900330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcaaactgtaatgttacGtcatgaaaacatcctgggat	7	7	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:101900330G>A	ENST00000374994.4	+	4	881	c.764G>A	c.(763-765)cGt>cAt	p.R255H	TGFBR1_ENST00000374990.2_Missense_Mutation_p.R178H|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R259H|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R186H	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	255	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	p.R255L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTAATGTTACGTCATGAAAAC	0.378													False	0	False	9:101900330	0	A	101900330	G	A	101900330	3	1	101	1	0	0	0	0	1	0	0	0	15903	1145	40	1	778	1	TGFBR1	9	101900330	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	24147819	101900330	39313101	46	29949											
OR13D1	286365	broad.mit.edu	37	chr9	107456958	107456958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatcaccatcttggattctCgcctccatactcccatgtat	4	15	4	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:107456958C>T	ENST00000318763.5	+	1	299	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTTGGATTCTCGCCTCCATAC	0.423													False	0	False	9:107456958	0	T	107456958	C	T	107456958	3	4	101	1	0	0	0	0	1	0	0	0	11008	884	31	1	258	1	OR13D1	9	107456958	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	5556628	107456958	33756473	47	29950											
ACTL7B	10880	broad.mit.edu	37	chr9	111617095	111617095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcttcctctcaggagcGgcagccactgcagggctgtc	14	13	2	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:111617095G>A	ENST00000374667.3	-	1	2144	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	372						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCTCAGGAGCGGCAGCCACTG	0.647													False	0	False	9:111617095	0	A	111617095	G	A	111617095	2	1	101	1	0	0	0	0	0	0	0	1	201	1103	39	1		1	ACTL7B	9	111617095	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	4160137	111617095	29596336	48	29951											
FBXW5	54461	broad.mit.edu	37	chr9	139835466	139835466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcatggtgcgtggggagcGccaggctttgatggtggcgt	20	8	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:139835466G>A	ENST00000325285.3	-	9	1694	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	539							catalytic activity|protein binding	p.R539C(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGTGGGGAGCGCCAGGCTTTG	0.672													False	0	False	9:139835466	0	A	139835466	G	A	139835466	3	1	101	1	0	0	0	0	1	0	0	0	5808	1087	38	1	89	1	FBXW5	9	139835466	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	28218371	139835466	1377965	49	29952											
ABCA2	20	broad.mit.edu	37	chr9	139908435	139908435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgcaccttcagccacccGccgtccagcttgcggctgcc	11	19	1	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:139908435G>A	ENST00000265662.5	-	28	4443	c.4296C>T	c.(4294-4296)ggC>ggT	p.G1432G	ABCA2_ENST00000341511.6_Silent_p.G1432G|ABCA2_ENST00000371605.3_Silent_p.G1431G			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1431					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCAGCCACCCGCCGTCCAGCT	0.657													False	0	True	9:139908435	0	A	139908435	G	A	139908435	2	1	101	1	0	0	0	0	0	0	0	1	32	1074	38	1		1	ABCA2	9	139908435	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	72969	139908435	1304996	50	29953											
PFKP	5214	broad.mit.edu	37	chr10	3143180	3143180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttcccttgtcctggccgGcatgctctggtggtcagtgg	14	13	2	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:3143180G>A	ENST00000381075.2	+	5	452	c.228G>A	c.(226-228)cgG>cgA	p.R76R	PFKP_ENST00000421751.1_Intron|PFKP_ENST00000381125.4_Intron	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	0					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GTCCTGGCCGGCATGCTCTGG	0.622													False	0	False	10:3143180	0	A	3143180	G	A	3143180	2	1	101	1	0	0	0	0	0	0	0	1	11835	1218	42	2		2	PFKP	10	3143180	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		3143180	132391567	51	29954											
MEIG1	644890	broad.mit.edu	37	chr10	15014570	15014571	+	Frame_Shift_Ins	INS	-	-	A													cagagaagggacaatacgttINSctattactacaacaaacaga							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:15014570_15014571insA	ENST00000378240.1	+	2	227_228	c.197_198insA	c.(196-201)ttctatfs	p.FY66fs	MEIG1_ENST00000407572.1_Frame_Shift_Ins_p.FY66fs|MEIG1_ENST00000467536.1_3'UTR			Q5JSS6	MEIG1_HUMAN	meiosis/spermiogenesis associated 1	66										kidney(1)|ovary(1)|prostate(1)	3						GACAATACGTTCTATTACTACA	0.391													False	0	False	10:15014570	0	A	15014571	-	A	15014570	7	5	101	1	0	1	1	0	0	0	0	0	9533	1783	62	0	203	0	MEIG1	10	15014570	Frame_Shift_Ins	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08	11871390	15014570	120520177	52	29955	362	2									
MEIG1	644890	broad.mit.edu	37	chr10	15014571	15014572	+	In_Frame_Ins	INS	-	-	AATGGAGGGTTGATTTTTATCTCA													agagaagggacaatacgttcINStattactacaacaaacagag							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:15014571_15014572insAATGGAGGGTTGATTTTTATCTCA	ENST00000378240.1	+	2	228_229	c.198_199insAATGGAGGGTTGATTTTTATCTCA	c.(199-201)tat>AATGGAGGGTTGATTTTTATCTCAtat	p.66_67insNGGLIFIS	MEIG1_ENST00000407572.1_In_Frame_Ins_p.66_67insNGGLIFIS|MEIG1_ENST00000467536.1_3'UTR			Q5JSS6	MEIG1_HUMAN	meiosis/spermiogenesis associated 1	66										kidney(1)|ovary(1)|prostate(1)	3						ACAATACGTTCTATTACTACAA	0.391													False	0	False	10:15014571	0	AATGGAGGGTTGATTTTTATCTCA	15014572	-	AATGGAGGGTTGATTTTTATCTCA	15014571	7	5	101	1	0	1	1	0	0	0	0	0	9533	912	32	0	204	0	MEIG1	10	15014571	In_Frame_Ins	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08	1	15014571	120520176	53	29956	362	2									
C10orf2	56652	broad.mit.edu	37	chr10	102748967	102748967	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacgatgcttcttggtgCgaccaggagaccagcaaccc	10	14	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:102748967C>T	ENST00000370228.1	+	1	1185	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	C10orf2_ENST00000311916.2_Nonsense_Mutation_p.R334*|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	334			R -> P (in PEOA3).|R -> Q (in PEO; sporadic case; the patient also carries the S-848 mutation in the POLG gene suggesting digenic inheritance; dbSNP:rs28937887).		cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTTCTTGGTGCGACCAGGAGA	0.572													False	0	False	10:102748967	0	T	102748967	C	T	102748967	4	4	101	1	0	0	0	0	0	1	0	0	1605	760	27	1	1002	1	C10orf2	10	102748967	Nonsense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	87734396	102748967	32785780	54	29957											
TACC2	10579	broad.mit.edu	37	chr10	124009109	124009109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggcccagcaggagcaagCcgcccaccaggccagcctgc	12	18	0	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:124009109C>T	ENST00000369005.1	+	22	9051	c.8711C>T	c.(8710-8712)gCc>gTc	p.A2904V	TACC2_ENST00000369000.1_Missense_Mutation_p.A527V|TACC2_ENST00000369004.3_Missense_Mutation_p.A964V|TACC2_ENST00000453444.2_Missense_Mutation_p.A2831V|TACC2_ENST00000513429.1_Missense_Mutation_p.A1050V|TACC2_ENST00000369001.1_Missense_Mutation_p.A531V|TACC2_ENST00000358010.1_Missense_Mutation_p.A1050V|TACC2_ENST00000515273.1_Missense_Mutation_p.A2831V|TACC2_ENST00000334433.3_Missense_Mutation_p.A2904V|TACC2_ENST00000360561.3_Missense_Mutation_p.A952V|TACC2_ENST00000260733.3_Missense_Mutation_p.A982V|TACC2_ENST00000515603.1_Missense_Mutation_p.A2782V|TACC2_ENST00000368999.1_Missense_Mutation_p.A994V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2904						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGGAGCAAGCCGCCCACCAG	0.607													False	0	False	10:124009109	0	T	124009109	C	T	124009109	3	4	101	1	0	0	0	0	1	0	0	0	15584	739	26	2	8865	2	TACC2	10	124009109	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	21260142	124009109	11525638	55	29958											
EPS8L2	64787	broad.mit.edu	37	chr11	722406	722406	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcactgtgccccagatcgtCaacacctgcagtggcccaga	9	16	2	2	rs146372566		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:722406C>T	ENST00000533256.1	+	14	1440	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Silent_p.V355V|EPS8L2_ENST00000530636.1_Silent_p.V355V|EPS8L2_ENST00000526198.1_Silent_p.V371V			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	355						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGATCGTCAACACCTGCA	0.657													False	0	False	11:722406	0	T	722406	C	T	722406	2	4	101	1	0	0	0	0	0	0	0	1	5228	813	29	2		2	EPS8L2	11	722406	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		722406	134284110	56	29959											
PTPN5	84867	broad.mit.edu	37	chr11	18754215	18754215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctcaacaccgtcgtacGccacctgctcctccggccaa	7	18	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:18754215G>A	ENST00000396170.1	-	12	2421	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	PTPN5_ENST00000396167.2_Missense_Mutation_p.A386V|PTPN5_ENST00000477854.1_Missense_Mutation_p.A222V|PTPN5_ENST00000396168.1_Missense_Mutation_p.A394V|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Missense_Mutation_p.A418V|PTPN5_ENST00000358540.2_Missense_Mutation_p.A418V	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	418	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						ACCGTCGTACGCCACCTGCTC	0.572											OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:18754215	0	A	18754215	G	A	18754215	3	1	101	1	0	0	0	0	1	0	0	0	12870	1087	38	1	460	1	PTPN5	11	18754215	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	18031809	18754215	116252301	57	29960											
SLC5A12	159963	broad.mit.edu	37	chr11	26725427	26725427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatccttgaatgagaaccGttaagaagcccacaatcatg	8	9	1	4			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:26725427G>A	ENST00000396005.3	-	5	902	c.593C>T	c.(592-594)aCg>aTg	p.T198M	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T198M	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	198					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGAGAACCGTTAAGAAGCC	0.403													False	0	False	11:26725427	0	A	26725427	G	A	26725427	3	1	101	1	0	0	0	0	1	0	0	0	14744	1145	40	1	1307	1	SLC5A12	11	26725427	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	7971212	26725427	108281089	58	29961											
FOSL1	8061	broad.mit.edu	37	chr11	65661489	65661489	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagggctggtgctcaccgccTgcaggaagtcggtcagttcc	14	13	2	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:65661489T>A	ENST00000312562.2	-	3	587	c.401A>T	c.(400-402)cAg>cTg	p.Q134L	FOSL1_ENST00000448083.2_Intron|FOSL1_ENST00000531493.1_Intron|FOSL1_ENST00000532401.1_Silent_p.A132A	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	134	Leucine-zipper.				cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		GCTCACCGCCTGCAGGAAGTC	0.657													False	0	False	11:65661489	0	A	65661489	T	A	65661489	3	1	101	1	0	0	0	0	1	0	0	0	6027	1580	55	5	422	5	FOSL1	11	65661489	Missense_Mutation	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	38936062	65661489	69345027	59	29962											
KLC2	64837	broad.mit.edu	37	chr11	66029444	66029444	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagacgcctcccctaacGtgagctcctaccatggtcac	8	15	1	3			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:66029444G>A	ENST00000394065.2	+	1	1060		c.e1+1		KLC2_ENST00000417856.1_Splice_Site|KLC2_ENST00000316924.5_Splice_Site|KLC2_ENST00000421552.1_Intron|KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394067.2_Splice_Site|KLC2_ENST00000394078.1_Splice_Site			Q9H0B6	KLC2_HUMAN	kinesin light chain 2						blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTCCCCTAACGTGAGCTCCTA	0.632													False	0	False	11:66029444	0	A	66029444	G	A	66029444	5	1	101	1	0	0	0	0	0	0	1	0	8384	1159	40	1	466	1	KLC2	11	66029444	Splice_Site	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	367955	66029444	68977072	60	29963											
FAT3	120114	broad.mit.edu	37	chr11	92523233	92523233	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagattgaagccacagataGagatgagaagcacaagctga	12	7	0	6			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:92523233G>A	ENST00000298047.6	+	7	4477	c.4460G>A	c.(4459-4461)aGa>aAa	p.R1487K	FAT3_ENST00000525166.1_Missense_Mutation_p.R1337K|FAT3_ENST00000409404.2_Missense_Mutation_p.R1487K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1487	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCACAGATAGAGATGAGAAG	0.473										TCGA Ovarian(4;0.039)			False	0	False	11:92523233	0	A	92523233	G	A	92523233	3	1	101	1	0	0	0	0	1	0	0	0	5731	942	33	2	4486	2	FAT3	11	92523233	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	26493789	92523233	42483283	61	29964											
ADAMTS15	170689	broad.mit.edu	37	chr11	130319167	130319167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcttcagacctgcgacGctgcttctattctggggacg	13	12	4	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:130319167G>A	ENST00000299164.2	+	1	299	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	100					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GACCTGCGACGCTGCTTCTAT	0.677													False	0	False	11:130319167	0	A	130319167	G	A	130319167	3	1	101	1	0	0	0	0	1	0	0	0	260	1087	38	1	301	1	ADAMTS15	11	130319167	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	37795934	130319167	4687349	62	29965											
OPCML	4978	broad.mit.edu	37	chr11	132290143	132290144	+	Frame_Shift_Ins	INS	-	-	CTTGGGCTTCTTTTTGTTTTTTTCTGTTATTCTAGATTTGTTTTCTTTT													gatagccagagacaagccagINStgctctggaggccgagttta							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:132290143_132290144insCTTGGGCTTCTTTTTGTTTTTTTCTGTTATTCTAGATTTGTTTTCTTTT	ENST00000331898.7	-	7	1559_1560	c.981_982insAAAAGAAAACAAATCTAGAATAACAGAAAAAAACAAAAAGAAGCCCAAG	c.(979-984)gcactgfs	p.L328fs	OPCML_ENST00000524381.1_Frame_Shift_Ins_p.L321fs|OPCML_ENST00000374778.4_Frame_Shift_Ins_p.L287fs|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Frame_Shift_Ins_p.L337fs	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	328					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGACAAGCCAGTGCTCTGGAGG	0.51													False	0	False	11:132290143	0	CTTGGGCTTCTTTTTGTTTTTTTCTGTTATTCTAGATTTGTTTTCTTTT	132290144	-	CTTGGGCTTCTTTTTGTTTTTTTCTGTTATTCTAGATTTGTTTTCTTTT	132290143	7	5	101	1	0	1	1	0	0	0	0	0	10942	1020	36	0	59	0	OPCML	11	132290143	Frame_Shift_Ins	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08	1970976	132290143	2716373	63	29966											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	101	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		25398284	108453611	64	29967											
POU6F1	5463	broad.mit.edu	37	chr12	51586202	51586202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggctggagctgggctgGcaatgaccacagcaggctgg	18	10	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:51586202G>A	ENST00000389243.4	-	9	1241	c.302C>T	c.(301-303)gCc>gTc	p.A101V	POU6F1_ENST00000550824.1_Missense_Mutation_p.A101V|POU6F1_ENST00000333640.10_Missense_Mutation_p.A101V			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	101	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						AGCTGGGCTGGCAATGACCAC	0.612													False	0	True	12:51586202	0	A	51586202	G	A	51586202	3	1	101	1	0	0	0	0	1	0	0	0	12353	1203	42	2	615	2	POU6F1	12	51586202	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	26187918	51586202	82265693	65	29968											
ESPL1	9700	broad.mit.edu	37	chr12	53663505	53663505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaccttggaacactgccGtcgcttttgctggagccgcc	11	15	1	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:53663505G>A	ENST00000257934.4	+	3	870	c.779G>A	c.(778-780)cGt>cAt	p.R260H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R260H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	260					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAACACTGCCGTCGCTTTTGC	0.572													False	0	False	12:53663505	0	A	53663505	G	A	53663505	3	1	101	1	0	0	0	0	1	0	0	0	5285	1145	40	1	785	1	ESPL1	12	53663505	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	2077303	53663505	80188390	66	29969											
NAV3	89795	broad.mit.edu	37	chr12	78510672	78510672	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aacatcaccgtcccctctagGaagaatactcaggtgagaat	8	11	3	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:78510672G>C	ENST00000397909.2	+	13	2930	c.2757G>C	c.(2755-2757)agG>agC	p.R919S	NAV3_ENST00000536525.2_Missense_Mutation_p.R919S|NAV3_ENST00000228327.6_Missense_Mutation_p.R919S|NAV3_ENST00000266692.7_Missense_Mutation_p.R919S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	919						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCCCCTCTAGGAAGAATACTC	0.438										HNSCC(70;0.22)			False	0	False	12:78510672	0	C	78510672	G	C	78510672	3	2	101	1	0	0	0	0	1	0	0	0	10252	1165	41	5	2807	5	NAV3	12	78510672	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	24847167	78510672	55341223	67	29970											
POLR3B	55703	broad.mit.edu	37	chr12	106824112	106824112	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtaacccaagtgctgtctcGcttgtcatatatatccgcac	7	12	2	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:106824112G>C	ENST00000228347.4	+	14	1547	c.1325G>C	c.(1324-1326)cGc>cCc	p.R442P	POLR3B_ENST00000539066.1_Missense_Mutation_p.R384P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	442					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTGCTGTCTCGCTTGTCATAT	0.453													False	0	False	12:106824112	0	C	106824112	G	C	106824112	3	2	101	1	0	0	0	0	1	0	0	0	12298	1087	38	5	1379	5	POLR3B	12	106824112	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	28313440	106824112	27027783	68	29971											
COL4A1	1282	broad.mit.edu	37	chr13	110857876	110857876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttgtcaccatcttttcCgggtttgccctgtagaataa	7	12	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr13:110857876C>T	ENST00000375820.4	-	16	989	c.868G>A	c.(868-870)Gga>Aga	p.G290R	COL4A1_ENST00000543140.1_Missense_Mutation_p.G290R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	290	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCATCTTTTCCGGGTTTGCCC	0.473													False	0	True	13:110857876	0	T	110857876	C	T	110857876	3	4	101	1	0	0	0	0	1	0	0	0	3712	661	23	1	4289	1	COL4A1	13	110857876	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		110857876	4312002	69	29972											
EFS	0	broad.mit.edu	37	chr14	23829227	23829227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggagggcacccggagggCggtggggggcacatcgtaga	20	9	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:23829227C>T	ENST00000216733.3	-	4	1067	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	EFS_ENST00000429593.2_Missense_Mutation_p.A61T|EFS_ENST00000351354.3_Missense_Mutation_p.A61T	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	154	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		ACCCGGAGGGCGGTGGGGGGC	0.637													False	0	True	14:23829227	0	T	23829227	C	T	23829227	3	4	101	1	0	0	0	0	1	0	0	0	4989	768	27	1	1237	1	EFS	14	23829227	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		23829227	83520313	70	29973											
AKAP6	9472	broad.mit.edu	37	chr14	33290803	33290803	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaatgaggaccctggttatGacgaggaggctgataaccat	13	7	0	3			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:33290803G>A	ENST00000280979.4	+	13	3954	c.3784G>A	c.(3784-3786)Gac>Aac	p.D1262N	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1262					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCCTGGTTATGACGAGGAGGC	0.448													False	0	False	14:33290803	0	A	33290803	G	A	33290803	3	1	101	1	0	0	0	0	1	0	0	0	455	1290	45	2	3830	2	AKAP6	14	33290803	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	9461576	33290803	74058737	71	29974											
RTF1	23168	broad.mit.edu	37	chr15	41763442	41763442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcgggttcgattatcacgGcataagctagaacgctggtg	12	8	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:41763442G>A	ENST00000389629.4	+	8	1110	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	366	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	p.R241R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GATTATCACGGCATAAGCTAG	0.458													False	0	False	15:41763442	0	A	41763442	G	A	41763442	2	1	101	1	0	0	0	0	0	0	0	1	13800	1190	42	2		2	RTF1	15	41763442	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		41763442	60767950	72	29975											
LTK	4058	broad.mit.edu	37	chr15	41797479	41797479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagttgcagcaggtcccGcatgaccagaggtgatggct	15	11	0	3	rs149973033		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:41797479G>A	ENST00000263800.6	-	15	1948	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W	LTK_ENST00000453182.2_Missense_Mutation_p.R488W|LTK_ENST00000355166.5_Missense_Mutation_p.R557W|LTK_ENST00000561619.1_Missense_Mutation_p.R316W	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	618	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGCAGGTCCCGCATGACCAGA	0.612										TSP Lung(18;0.14)			False	0	True	15:41797479	0	A	41797479	G	A	41797479	3	1	101	1	0	0	0	0	1	0	0	0	9142	1086	38	1	766	1	LTK	15	41797479	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	34037	41797479	60733913	73	29976											
TYRO3	7301	broad.mit.edu	37	chr15	41863886	41863887	+	Splice_Site	INS	-	-	GGTAAGCCTCCGGAGCAGGGC													cacgtggccaaacttgttggINStgagcccatttttgggggag							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:41863886_41863887insGGTAAGCCTCCGGAGCAGGGC	ENST00000263798.3	+	14	1977		c.e14+1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAACTTGTTGGTGAGCCCATTT	0.475													False	0	False	15:41863886	0	GGTAAGCCTCCGGAGCAGGGC	41863887	-	GGTAAGCCTCCGGAGCAGGGC	41863886	8	5	101	1	0	1	1	0	0	0	1	0	16898	1275	44	0	1808	0	TYRO3	15	41863886	Splice_Site	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08	66407	41863886	60667506	74	29977											
SEMA6D	80031	broad.mit.edu	37	chr15	48063190	48063190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacccctcagttttttccGtctagtccgccacctcattc	5	16	3	0	rs144939945		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:48063190G>A	ENST00000316364.5	+	19	2869	c.2430G>A	c.(2428-2430)ccG>ccA	p.P810P	SEMA6D_ENST00000536845.2_Silent_p.P810P|SEMA6D_ENST00000389432.2_Silent_p.P767P|SEMA6D_ENST00000558014.1_Silent_p.P748P|SEMA6D_ENST00000537942.1_Silent_p.P748P|SEMA6D_ENST00000389433.2_Silent_p.P791P|SEMA6D_ENST00000389428.3_Silent_p.P735P|SEMA6D_ENST00000358066.4_Silent_p.P748P|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Silent_p.P754P|SEMA6D_ENST00000355997.3_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	810					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.P748P(1)|p.P810P(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGTTTTTTCCGTCTAGTCCGC	0.507													False	0	False	15:48063190	0	A	48063190	G	A	48063190	2	1	101	1	0	0	0	0	0	0	0	1	14123	1132	40	1		1	SEMA6D	15	48063190	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	6199304	48063190	54468202	75	29978											
UNC13C	440279	broad.mit.edu	37	chr15	54916007	54916007	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttagtgattgctattaatGacctaaactggcagaccaca	7	8	0	3			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:54916007G>A	ENST00000545554.1	+	31	6214	c.6214G>A	c.(6214-6216)Gac>Aac	p.D2072N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D2072N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D2070N|UNC13C_ENST00000539562.2_5'UTR			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2072	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCTATTAATGACCTAAACTG	0.368													False	0	False	15:54916007	0	A	54916007	G	A	54916007	3	1	101	1	0	0	0	0	1	0	0	0	17070	1290	45	2	6332	2	UNC13C	15	54916007	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	6852817	54916007	47615385	76	29979											
CCNB2	9133	broad.mit.edu	37	chr15	59409031	59409031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttataccagttcccaaatccGagaaatggaaactctaattt	5	9	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:59409031G>A	ENST00000288207.2	+	6	931	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	CCNB2_ENST00000559622.1_Missense_Mutation_p.R166Q	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	247					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TCCCAAATCCGAGAAATGGAA	0.413													False	0	False	15:59409031	0	A	59409031	G	A	59409031	3	1	101	1	0	0	0	0	1	0	0	0	2936	1058	37	1	762	1	CCNB2	15	59409031	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	4493024	59409031	43122361	77	29980											
EFTUD1	79631	broad.mit.edu	37	chr15	82530841	82530841	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggactttagaagtaaaaaGagtccctgtgagcgcattaa	10	6	0	3			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:82530841G>A	ENST00000268206.7	-	7	706	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	EFTUD1_ENST00000359445.3_Missense_Mutation_p.L129F	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	180					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAAGTAAAAAGAGTCCCTGTG	0.453													False	0	True	15:82530841	0	A	82530841	G	A	82530841	3	1	101	1	0	0	0	0	1	0	0	0	4990	942	33	2	2880	2	EFTUD1	15	82530841	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	23121810	82530841	20000551	78	29981											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1814146	1814146	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgggggccaggaggacacgCggatgaagaacgtgccggtg	19	9	0	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:1814146C>A	ENST00000250894.4	+	18	2210	c.2053C>A	c.(2053-2055)Cgg>Agg	p.R685R	MAPK8IP3_ENST00000356010.5_Silent_p.R679R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	685					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGAGGACACGCGGATGAAGAA	0.672													False	0	False	16:1814146	0	A	1814146	C	A	1814146	2	1	101	1	0	0	0	0	0	0	0	1	9353	759	27	3		3	MAPK8IP3	16	1814146	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		1814146	88540607	79	29982											
PPL	5493	broad.mit.edu	37	chr16	4935121	4935121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgccttggggtctggccGcacgatctcccgcaccttct	10	17	3	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:4935121G>A	ENST00000345988.2	-	22	3624	c.3535C>T	c.(3535-3537)Cgg>Tgg	p.R1179W	PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1179					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGGTCTGGCCGCACGATCTCC	0.627													False	0	False	16:4935121	0	A	4935121	G	A	4935121	3	1	101	1	0	0	0	0	1	0	0	0	12408	1086	38	1	1739	1	PPL	16	4935121	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	3120975	4935121	85419632	80	29983											
TNRC6A	27327	broad.mit.edu	37	chr16	24788429	24788443	+	In_Frame_Del	DEL	ACAGCCGCAGCCGCA	ACAGCCGCAGCCGCA	-													cagcagccacagcagcagccAcagccgcagccgcagcagca					rs10593508	by1000genomes	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	ACAGCCGCAGCCGCA	ACAGCCGCAGCCGCA	-	-	ACAGCCGCAGCCGCA	ACAGCCGCAGCCGCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:24788429_24788443delACAGCCGCAGCCGCA	ENST00000395799.3	+	5	468_482	c.339_353delACAGCCGCAGCCGCA	c.(337-354)ccacagccgcagccgcag>ccg	p.QPQPQ114del	TNRC6A_ENST00000315183.7_In_Frame_Del_p.QPQPQ114del	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	114	Gln-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	p.P117P(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		agcagcagccacagccgcagccgcagcagcagcag	0.586													False	1	True	16:24788429	0	-	24788443	ACAGCCGCAGCCGCA	-	24788429	7	5	101	1	0	1	0	1	0	0	0	0	16422	146	6	0	357	0	TNRC6A	16	24788429	In_Frame_Del	DEL	ACAGCCGCAGCCGCA	TCGA-IB-A5SO-01A-11D-A32N-08	19853308	24788429	65566324	81	29984											
GNAO1	2775	broad.mit.edu	37	chr16	56374750	56374750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccactctgttgcagaaccGcatgcacgaatccctgaagc	8	15	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:56374750G>A	ENST00000262494.7	+	7	988	c.728G>A	c.(727-729)cGc>cAc	p.R243H	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	243					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TTGCAGAACCGCATGCACGAA	0.532													False	0	False	16:56374750	0	A	56374750	G	A	56374750	3	1	101	1	0	0	0	0	1	0	0	0	6553	1087	38	1	754	1	GNAO1	16	56374750	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	31586321	56374750	33980003	82	29985											
NUTF2	10204	broad.mit.edu	37	chr16	67904796	67904796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgacatgttcaggctcGccctgcacaactttggctga	9	13	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:67904796G>A	ENST00000219169.4	+	5	647	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	NUTF2_ENST00000568396.2_Missense_Mutation_p.A122T|NUTF2_ENST00000569436.2_Missense_Mutation_p.A122T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	122					protein transport	cytosol|nuclear pore	protein binding|transporter activity			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		GTTCAGGCTCGCCCTGCACAA	0.517													False	0	True	16:67904796	0	A	67904796	G	A	67904796	3	1	101	1	0	0	0	0	1	0	0	0	10847	1087	38	1	378	1	NUTF2	16	67904796	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	11530046	67904796	22449957	83	29986											
FOXC2	2303	broad.mit.edu	37	chr16	86601494	86601494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagcgggcccacctcaagGagccgcccccggcggcgtcc	15	18	1	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:86601494G>A	ENST00000320354.4	+	1	638	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	185					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCACCTCAAGGAGCCGCCCCC	0.682									Late-onset Hereditary Lymphedema				False	0	False	16:86601494	0	A	86601494	G	A	86601494	3	1	101	1	0	0	0	0	1	0	0	0	6035	1175	41	2	555	2	FOXC2	16	86601494	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	18696698	86601494	3753259	84	29987											
POLR2A	5430	broad.mit.edu	37	chr17	7405016	7405016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtctatggtcgtgtccGgagctaaaggttccaagatt	11	8	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:7405016G>A	ENST00000322644.6	+	14	2716	c.2317G>A	c.(2317-2319)Gga>Aga	p.G773R		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	773					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGTCGTGTCCGGAGCTAAAGG	0.483													False	0	False	17:7405016	0	A	7405016	G	A	7405016	3	1	101	1	0	0	0	0	1	0	0	0	12283	1117	39	1	2371	1	POLR2A	17	7405016	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		7405016	73790194	85	29988											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	12	9	0	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552		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)			False	0	False	17:7578263	0	A	7578263	G	A	7578263	4	1	101	1	0	0	0	0	0	1	0	0	16464	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	173247	7578263	73616947	86	29989											
MAPT	4137	broad.mit.edu	37	chr17	44060672	44060672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccccagagaggccacaCgccaaccttcggggacagga	14	14	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:44060672C>T	ENST00000344290.5	+	6	824	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	MAPT_ENST00000574436.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.R168C|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.R168C|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.R168C|MAPT_ENST00000351559.5_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	168					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AGAGGCCACACGCCAACCTTC	0.692													False	0	False	17:44060672	0	T	44060672	C	T	44060672	3	4	101	1	0	0	0	0	1	0	0	0	9364	536	19	1	520	1	MAPT	17	44060672	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	36482409	44060672	37134538	87	29990											
PRPSAP1	5635	broad.mit.edu	37	chr17	74309083	74309083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacaaaactctccacatcGtcaataatgtcatcctggga	6	12	3	0	rs148092431		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:74309083G>A	ENST00000446526.3	-	9	1312	c.867C>T	c.(865-867)gaC>gaT	p.D289D	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Silent_p.D186D	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	260					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TCTCCACATCGTCAATAATGT	0.512													False	0	False	17:74309083	0	A	74309083	G	A	74309083	2	1	101	1	0	0	0	0	0	0	0	1	12657	1136	40	1		1	PRPSAP1	17	74309083	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	30248411	74309083	6886127	88	29991											
DNAH17	8632	broad.mit.edu	37	chr17	76455199	76455199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagacctcgtagaagcggaCgatgttgatgcaccaggagc	14	9	0	3	rs139080560	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:76455199C>T	ENST00000389840.5	-	61	9827	c.9703G>A	c.(9703-9705)Gtc>Atc	p.V3235I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.V3244I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGAAGCGGACGATGTTGATG	0.637													False	0	False	17:76455199	0	T	76455199	C	T	76455199	3	4	101	1	0	0	0	0	1	0	0	0	4631	536	19	1	3727	1	DNAH17	17	76455199	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	2146116	76455199	4740011	89	29992											
FCGBP	8857	broad.mit.edu	37	chr19	40433869	40433869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctagggcctggatgggccGcagcagtgtcagctccgctg	16	13	1	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:40433869G>A	ENST00000221347.6	-	2	407	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	134	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGATGGGCCGCAGCAGTGTC	0.597													False	0	False	19:40433869	0	A	40433869	G	A	40433869	3	1	101	1	0	0	0	0	1	0	0	0	5818	1086	38	1	15957	1	FCGBP	19	40433869	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		40433869	18695114	90	29993											
PSG7	5676	broad.mit.edu	37	chr19	43441294	43441294	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagaatcttcctgagcaCggctgtcagctgtgctgtcc	10	13	2	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:43441294C>T	ENST00000406070.2	-	0	31				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTCCTGAGCACGGCTGTCAGC	0.617													False	0	False	19:43441294	0	T	43441294	C	T	43441294	1	4	101	0	1	0	0	0	0	0	0	0	12736	551	19	1		1	PSG7	19	43441294	RNA	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	3007425	43441294	15687689	91	29994											
TMEM143	55260	broad.mit.edu	37	chr19	48837419	48837419	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagtacagcatgtgcgccagCtccaacgcctgcgcgctgcg	12	15	0	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:48837419C>G	ENST00000293261.3	-	7	1327	c.1011G>C	c.(1009-1011)gaG>gaC	p.E337D	TMEM143_ENST00000436660.2_Missense_Mutation_p.E272D|TMEM143_ENST00000377431.2_Missense_Mutation_p.E237D|TMEM143_ENST00000541566.1_Missense_Mutation_p.E227D|TMEM143_ENST00000435956.3_Missense_Mutation_p.E302D	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	337						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGTGCGCCAGCTCCAACGCCT	0.701											OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	19:48837419	0	G	48837419	C	G	48837419	3	3	101	1	0	0	0	0	1	0	0	0	16139	796	28	5	376	5	TMEM143	19	48837419	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	5396125	48837419	10291564	92	29995											
TGM6	343641	broad.mit.edu	37	chr20	2397961	2397961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaggagaatctggatcCgcagggctgggggtcgctgt	18	8	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:2397961C>T	ENST00000202625.2	+	10	1481	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	TGM6_ENST00000381423.1_Missense_Mutation_p.R474C	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	474					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AATCTGGATCCGCAGGGCTGG	0.622													False	0	False	20:2397961	0	T	2397961	C	T	2397961	3	4	101	1	0	0	0	0	1	0	0	0	15916	652	23	1	1458	1	TGM6	20	2397961	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		2397961	60627559	93	29996											
GNAS	2778	broad.mit.edu	37	chr20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggacctgcttcgctgccGtgtcctgacttctggaatct	10	13	3	1	rs121913495		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:57484421G>A	ENST00000371100.4	+	8	3083	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			False	0	False	20:57484421	0	A	57484421	G	A	57484421	3	1	101	1	0	0	0	0	1	0	0	0	6555	1145	40	1	3449	1	GNAS	20	57484421	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	55086460	57484421	5541099	94	29997											
OPRL1	4987	broad.mit.edu	37	chr20	62729805	62729805	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggctcccgagagaaggacCggaacctgcggcgcatcact	14	14	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:62729805C>A	ENST00000349451.3	+	6	1178	c.766C>A	c.(766-768)Cgg>Agg	p.R256R	OPRL1_ENST00000336866.2_Silent_p.R256R|OPRL1_ENST00000355631.4_Silent_p.R256R	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	256					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AGAGAAGGACCGGAACCTGCG	0.657													False	0	False	20:62729805	0	A	62729805	C	A	62729805	2	1	101	1	0	0	0	0	0	0	0	1	10954	643	23	3		3	OPRL1	20	62729805	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	5245384	62729805	295715	95	29998											
HLCS	3141	broad.mit.edu	37	chr21	38269180	38269180	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatccaggagacgcatcgtTgtgggggtcacttcggcaaa	13	11	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr21:38269180T>C	ENST00000399120.1	-	7	2661	c.1431A>G	c.(1429-1431)acA>acG	p.T477T	HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.4_Silent_p.T477T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	477					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GACGCATCGTTGTGGGGGTCA	0.493													False	0	False	21:38269180	0	C	38269180	T	C	38269180	2	2	101	1	0	0	0	0	0	0	0	1	7260	1799	63	4		4	HLCS	21	38269180	Silent	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08		38269180	9860715	96	29999											
POFUT2	23275	broad.mit.edu	37	chr21	46705777	46705777	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtcttcaggagagaggcGattcggatatagacatccct	12	8	2	3			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr21:46705777G>A	ENST00000331343.7	-	2	224	c.198C>T	c.(196-198)atC>atT	p.I66I	POFUT2_ENST00000349485.5_Silent_p.I66I	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	66					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGAGAGAGGCGATTCGGATAT	0.572													False	0	False	21:46705777	0	A	46705777	G	A	46705777	2	1	101	1	0	0	0	0	0	0	0	1	12253	1048	37	1		1	POFUT2	21	46705777	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	8436597	46705777	1424118	97	30000											
SEPT5	5413	broad.mit.edu	37	chr22	19707654	19707654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagagcgcatcagccagacGgtagagattctaaaacacac	10	10	2	3			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr22:19707654G>A	ENST00000438754.2	+	4	562	c.282G>A	c.(280-282)acG>acA	p.T94T	SEPT5_ENST00000406395.1_Silent_p.T85T|SEPT5_ENST00000455784.2_Silent_p.T85T|SEPT5_ENST00000383045.3_Silent_p.T94T	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	85					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TCAGCCAGACGGTAGAGATTC	0.592													False	0	False	22:19707654	0	A	19707654	G	A	19707654	2	1	101	1	0	0	0	0	0	0	0	1	14148	1103	39	1		1	SEPT5	22	19707654	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		19707654	31596912	98	30001											
SUSD2	56241	broad.mit.edu	37	chr22	24579549	24579549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctctatgagagcggccGcatccccttcactgtgtcac	9	15	4	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr22:24579549G>A	ENST00000358321.3	+	3	635	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	125					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GAGAGCGGCCGCATCCCCTTC	0.647													False	0	False	22:24579549	0	A	24579549	G	A	24579549	3	1	101	1	0	0	0	0	1	0	0	0	15490	1087	38	1	384	1	SUSD2	22	24579549	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	4871895	24579549	26725017	99	30002											
SPANXD	64648	broad.mit.edu	37	chrX	140785682	140785682	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctccatttggaggggGttgattctgttctttcgggc	12	10	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:140785682G>C	ENST00000370515.3	-	2	567	c.234C>G	c.(232-234)aaC>aaG	p.N78K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TTTGGAGGGGGTTGATTCTGT	0.448													False	0	True	X:140785682	0	C	140785682	G	C	140785682	3	2	101	1	0	0	0	0	1	0	0	0	15070	1252	44	5	63	5	SPANXD	23	140785682	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		140785682	14484878	100	30003											
BRCC3	79184	broad.mit.edu	37	chrX	154348377	154348379	+	In_Frame_Del	DEL	ACA	ACA	-													caacagcatttgcaggaattAcaacaagaaaaggaagagct							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08	ACA	ACA	-	-	ACA	ACA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:154348377_154348379delACA	ENST00000369462.1	+	11	928_930	c.903_905delACA	c.(901-906)ttacaa>tta	p.Q303del	BRCC3_ENST00000369459.2_In_Frame_Del_p.Q234del|BRCC3_ENST00000330045.7_In_Frame_Del_p.Q278del|BRCC3_ENST00000340647.4_In_Frame_Del_p.Q279del|BRCC3_ENST00000399042.1_In_Frame_Del_p.Q304del|MTCP1_ENST00000362018.2_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	303					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCAGGAATTACAACAAGAAAAG	0.414													False	2	False	X:154348377	0	-	154348379	ACA	-	154348377	7	5	101	1	0	1	0	1	0	0	0	0	1507	388	14	0	945	0	BRCC3	23	154348377	In_Frame_Del	DEL	ACA	TCGA-IB-A5SO-01A-11D-A32N-08	13562695	154348377	922183	101	30004											
PRDM2	7799	broad.mit.edu	37	chr1	14108213	14108213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatttcagtaccatcaccGtaaccccatggggattggtg	9	12	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:14108213G>A	ENST00000235372.7	+	8	4779	c.3923G>A	c.(3922-3924)cGt>cAt	p.R1308H	PRDM2_ENST00000343137.4_Missense_Mutation_p.R1107H|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1308H|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1107H	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1308						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TACCATCACCGTAACCCCATG	0.443													False	0	False	1:14108213	0	A	14108213	G	A	14108213	3	1	102	1	0	0	0	0	1	0	0	0	12534	1145	40	1	3949	1	PRDM2	1	14108213	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		14108213	235142408	1	30005											
MAP3K6	9064	broad.mit.edu	37	chr1	27687469	27687469	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgccgtggaatccgggttCgtcacccaggcctggatcag	15	13	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:27687469C>T	ENST00000374040.3	-	13	2099	c.1839G>A	c.(1837-1839)acG>acA	p.T613T	MAP3K6_ENST00000493901.1_Silent_p.T621T|MAP3K6_ENST00000357582.2_Silent_p.T621T			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	621					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AATCCGGGTTCGTCACCCAGG	0.716													False	0	False	1:27687469	0	T	27687469	C	T	27687469	2	4	102	1	0	0	0	0	0	0	0	1	9321	871	31	1		1	MAP3K6	1	27687469	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	13579256	27687469	221563152	2	30006											
MATN1	4146	broad.mit.edu	37	chr1	31188936	31188936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatgtaggacatattccGcacagccgccttgatgtcct	8	14	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:31188936G>A	ENST00000373765.4	-	5	1062	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	MATN1_ENST00000477320.1_5'UTR	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	343	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GACATATTCCGCACAGCCGCC	0.592													False	0	False	1:31188936	0	A	31188936	G	A	31188936	3	1	102	1	0	0	0	0	1	0	0	0	9400	1086	38	1	479	1	MATN1	1	31188936	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	3501467	31188936	218061685	3	30007											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43636461	43636461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcagatttggccatttccGcaaaataatcagtgggtcgc	10	9	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:43636461G>A	ENST00000431635.2	-	5	726	c.578C>T	c.(577-579)gCg>gTg	p.A193V	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.A138V	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	138					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCATTTCCGCAAAATAATC	0.473													False	0	False	1:43636461	0	A	43636461	G	A	43636461	3	1	102	1	0	0	0	0	1	0	0	0	4915	1087	38	1	531	1	EBNA1BP2	1	43636461	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	12447525	43636461	205614160	4	30008											
CELSR2	1952	broad.mit.edu	37	chr1	109795748	109795748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtccgcctccttgaccGcaatgacaacccaccagtgc	7	19	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:109795748G>A	ENST00000271332.3	+	1	3108	c.3047G>A	c.(3046-3048)cGc>cAc	p.R1016H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1016	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCCTTGACCGCAATGACAAC	0.577													False	0	False	1:109795748	0	A	109795748	G	A	109795748	3	1	102	1	0	0	0	0	1	0	0	0	3245	1087	38	1	3049	1	CELSR2	1	109795748	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	66159287	109795748	139454873	5	30009											
KCNA3	3738	broad.mit.edu	37	chr1	111216789	111216789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacacctggcgctggaagtCgcggcggggcaagggccgct	17	14	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:111216789C>T	ENST00000369769.2	-	1	866	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	215						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCTGGAAGTCGCGGCGGGGC	0.682													False	0	False	1:111216789	0	T	111216789	C	T	111216789	3	4	102	1	0	0	0	0	1	0	0	0	8054	884	31	1	1088	1	KCNA3	1	111216789	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	1421041	111216789	138033832	6	30010											
FLG2	388698	broad.mit.edu	37	chr1	152327955	152327955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaactgtgttggccataGctagactgacctgatctaga	10	10	1	5			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517													False	0	False	1:152327955	0	A	152327955	G	A	152327955	2	1	102	1	0	0	0	0	0	0	0	1	5963	962	34	2		2	FLG2	1	152327955	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	41111166	152327955	96922666	7	30011											
RGL1	23179	broad.mit.edu	37	chr1	183885789	183885789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagacacctgcataatccGcatcagtgtggaagacaata	9	9	1	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:183885789G>A	ENST00000304685.4	+	17	2512	c.2063G>A	c.(2062-2064)cGc>cAc	p.R688H	RGL1_ENST00000539189.1_Missense_Mutation_p.R624H|RGL1_ENST00000360851.3_Missense_Mutation_p.R653H|RGL1_ENST00000536277.1_Missense_Mutation_p.R651H	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1		Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGCATAATCCGCATCAGTGTG	0.498													False	0	False	1:183885789	0	A	183885789	G	A	183885789	3	1	102	1	0	0	0	0	1	0	0	0	13355	1087	38	1	2125	1	RGL1	1	183885789	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	31557834	183885789	65364832	8	30012											
HMCN1	83872	broad.mit.edu	37	chr1	185892601	185892601	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttcttgaacttttgagtatCtcaggaagttctcttaagac	7	8	3	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:185892601C>G	ENST00000271588.4	+	8	1330	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	HMCN1_ENST00000367492.2_Missense_Mutation_p.I367M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	367					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTTGAGTATCTCAGGAAGTT	0.353													False	0	False	1:185892601	0	G	185892601	C	G	185892601	3	3	102	1	0	0	0	0	1	0	0	0	7267	903	32	5	1131	5	HMCN1	1	185892601	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	2006812	185892601	63358020	9	30013											
KDM5B	10765	broad.mit.edu	37	chr1	202702804	202702804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaagccagattcgcaggcCctgtgaaatactgggtaccg	11	11	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:202702804C>A	ENST00000367265.3	-	23	4798	c.3634G>T	c.(3634-3636)Ggc>Tgc	p.G1212C	KDM5B_ENST00000367264.2_Missense_Mutation_p.G1248C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1212					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATTCGCAGGCCCTGTGAAATA	0.542													False	0	True	1:202702804	0	A	202702804	C	A	202702804	3	1	102	1	0	0	0	0	1	0	0	0	8184	623	22	3	1020	3	KDM5B	1	202702804	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	16810203	202702804	46547817	10	30014											
NSL1	25936	broad.mit.edu	37	chr1	212960972	212960973	+	In_Frame_Ins	INS	-	-	TTGTTTTGAATG													attctcttgcacagctgattINScaaaagtctgcaataaattc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:212960972_212960973insTTGTTTTGAATG	ENST00000366977.3	-	2	259_260	c.241_242insCATTCAAAACAA	c.(241-243)gaa>gCATTCAAAACAAaa	p.81_81E>AFKTK	NSL1_ENST00000422588.2_In_Frame_Ins_p.81_81E>AFKTK|NSL1_ENST00000366975.6_In_Frame_Ins_p.81_81E>AFKTK|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366978.1_5'UTR|NSL1_ENST00000366976.1_In_Frame_Ins_p.81_81E>AFKTK	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	81					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		CACAGCTGATTCAAAAGTCTGC	0.317													False	0	True	1:212960972	0	TTGTTTTGAATG	212960973	-	TTGTTTTGAATG	212960972	7	5	102	1	0	1	1	0	0	0	0	0	10741	1783	62	0	712	0	NSL1	1	212960972	In_Frame_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	10258168	212960972	36289649	11	30015	363	2									
NSL1	25936	broad.mit.edu	37	chr1	212960973	212960974	+	Frame_Shift_Ins	INS	-	-	TGTTTTTT													ttctcttgcacagctgattcINSaaaagtctgcaataaattca							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:212960973_212960974insTGTTTTTT	ENST00000366977.3	-	2	258_259	c.240_241insAAAAAACA	c.(238-243)tttgaafs	p.E81fs	NSL1_ENST00000422588.2_Frame_Shift_Ins_p.E81fs|NSL1_ENST00000366975.6_Frame_Shift_Ins_p.E81fs|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366978.1_5'UTR|NSL1_ENST00000366976.1_Frame_Shift_Ins_p.E81fs	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	81					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		ACAGCTGATTCAAAAGTCTGCA	0.317													False	0	True	1:212960973	0	TGTTTTTT	212960974	-	TGTTTTTT	212960973	7	5	102	1	0	1	1	0	0	0	0	0	10741	835	29	0	713	0	NSL1	1	212960973	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	1	212960973	36289648	12	30016	363	2									
USH2A	7399	broad.mit.edu	37	chr1	215933091	215933091	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattacgactcaattgataTtgagaaacgaggccattggg	10	8	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:215933091T>C	ENST00000366943.2	-	57	11528	c.11142A>G	c.(11140-11142)caA>caG	p.Q3714Q	USH2A_ENST00000307340.3_Silent_p.Q3714Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3714	Fibronectin type-III 22.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCAATTGATATTGAGAAACGA	0.428										HNSCC(13;0.011)			False	0	False	1:215933091	0	C	215933091	T	C	215933091	2	2	102	1	0	0	0	0	0	0	0	1	17120	1490	52	4		4	USH2A	1	215933091	Silent	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	2972118	215933091	33317530	13	30017											
PLD5	200150	broad.mit.edu	37	chr1	242253380	242253380	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaggcccgtgccagcattctGagtgaaatcattccctaccc	8	14	2	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:242253380G>C	ENST00000536534.2	-	10	1628	c.1387C>G	c.(1387-1389)Cag>Gag	p.Q463E	PLD5_ENST00000442594.2_Missense_Mutation_p.Q371E|PLD5_ENST00000427495.1_Missense_Mutation_p.Q401E			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5							integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCAGCATTCTGAGTGAAATCA	0.398													False	0	False	1:242253380	0	C	242253380	G	C	242253380	3	2	102	1	0	0	0	0	1	0	0	0	12118	1299	45	5	227	5	PLD5	1	242253380	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	26320289	242253380	6997241	14	30018											
SDCCAG8	10806	broad.mit.edu	37	chr1	243456473	243456473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaccattttcccatgaCaatgcagattttggcaaagc	7	9	0	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:243456473C>T	ENST00000366541.3	+	6	745	c.627C>T	c.(625-627)gaC>gaT	p.D209D	SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000391846.1_Silent_p.D209D|SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000343783.6_Silent_p.D64D	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	209					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTTCCCATGACAATGCAGATT	0.403													False	0	False	1:243456473	0	T	243456473	C	T	243456473	2	4	102	1	0	0	0	0	0	0	0	1	14040	477	17	2		2	SDCCAG8	1	243456473	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	1203093	243456473	5794148	15	30019											
OR2T3	343173	broad.mit.edu	37	chr1	248637216	248637216	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttctgtgagactcctgccCtgctgaagctctcctgctct	8	14	3	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:248637216C>A	ENST00000359594.2	+	1	590	c.565C>A	c.(565-567)Ctg>Atg	p.L189M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GACTCCTGCCCTGCTGAAGCT	0.512													False	0	True	1:248637216	0	A	248637216	C	A	248637216	3	1	102	1	0	0	0	0	1	0	0	0	11091	680	24	3	567	3	OR2T3	1	248637216	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	5180743	248637216	613405	16	30020											
POMC	5443	broad.mit.edu	37	chr2	25387630	25387630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccgagcggctgcagcaCgatctcggcatcttccaggc	12	17	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:25387630C>T	ENST00000405623.1	-	2	467	c.12G>A	c.(10-12)tcG>tcA	p.S4S	POMC_ENST00000264708.3_Silent_p.S4S|POMC_ENST00000380794.1_Silent_p.S4S|POMC_ENST00000395826.2_Silent_p.S4S			P01189	COLI_HUMAN	proopiomelanocortin	4					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GGCTGCAGCACGATCTCGGCA	0.607													False	0	False	2:25387630	0	T	25387630	C	T	25387630	2	4	102	1	0	0	0	0	0	0	0	1	12311	523	19	1		1	POMC	2	25387630	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		25387630	217811743	17	30021											
DPYSL5	56896	broad.mit.edu	37	chr2	27121503	27121503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgagctcatgatccctGgcggggccaaggtgattgat	15	11	1	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:27121503G>A	ENST00000288699.6	+	2	294	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	DPYSL5_ENST00000401478.1_Missense_Mutation_p.G46S	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	46					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGATCCCTGGCGGGGCCAA	0.587													False	0	False	2:27121503	0	A	27121503	G	A	27121503	3	1	102	1	0	0	0	0	1	0	0	0	4780	1348	47	2	138	2	DPYSL5	2	27121503	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	1733873	27121503	216077870	18	30022											
MGAT5	4249	broad.mit.edu	37	chr2	135012053	135012053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttggcttcatttggggtAtgatgcttctgcactttacc	9	9	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:135012053A>G	ENST00000409645.1	+	2	331	c.79A>G	c.(79-81)Atg>Gtg	p.M27V	MGAT5_ENST00000468758.1_3'UTR|MGAT5_ENST00000281923.2_Missense_Mutation_p.M27V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	27					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CATTTGGGGTATGATGCTTCT	0.522													False	0	False	2:135012053	0	G	135012053	A	G	135012053	3	3	102	1	0	0	0	0	1	0	0	0	9615	449	16	4	81	4	MGAT5	2	135012053	Missense_Mutation	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	107890550	135012053	108187320	19	30023											
SCN2A	6326	broad.mit.edu	37	chr2	166171996	166171996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaggcggcagctgcagccGcatctgctgaatcaagagac	12	12	3	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:166171996G>A	ENST00000375437.2	+	11	1689	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	SCN2A_ENST00000375427.2_Missense_Mutation_p.A467T|SCN2A_ENST00000283256.6_Missense_Mutation_p.A467T|SCN2A_ENST00000357398.3_Missense_Mutation_p.A467T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	467					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGCTGCAGCCGCATCTGCTGA	0.408													False	0	False	2:166171996	0	A	166171996	G	A	166171996	3	1	102	1	0	0	0	0	1	0	0	0	13997	1087	38	1	1533	1	SCN2A	2	166171996	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	31159943	166171996	77027377	20	30024											
SCN7A	6332	broad.mit.edu	37	chr2	167313539	167313540	+	Frame_Shift_Ins	INS	-	-	A													aaaaggaaaacaaaaaacttINSaccaccacaaaaaatatcat							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:167313539_167313540insA	ENST00000409855.1	-	10	1256_1257	c.1130_1131insT	c.(1129-1131)gtafs	p.V377fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	377					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACAAAAAACTTACCACCACAAA	0.347													False	1	False	2:167313539	0	A	167313540	-	A	167313539	7	5	102	1	0	1	1	0	0	0	0	0	14004	1741	61	0	3981	0	SCN7A	2	167313539	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	1141543	167313539	75885834	21	30025											
TTN	7273	broad.mit.edu	37	chr2	179436286	179436286	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaactgtagctgatacaAtttgccaggtggttgtggaa	12	6	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:179436286A>T	ENST00000589042.1	-	326	74797	c.74573T>A	c.(74572-74574)aTt>aAt	p.I24858N	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15985N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I15918N|TTN_ENST00000460472.2_Missense_Mutation_p.I15793N|TTN_ENST00000591111.1_Missense_Mutation_p.I23217N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I22290N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23217	Fibronectin type-III 81.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTGATACAATTTGCCAGGT	0.418													False	0	True	2:179436286	0	T	179436286	A	T	179436286	3	4	102	1	0	0	0	0	1	0	0	0	16819	101	4	5	33554	5	TTN	2	179436286	Missense_Mutation	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	12122747	179436286	63763087	22	30026											
ASB18	401036	broad.mit.edu	37	chr2	237103689	237103689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagagggactggtagaaCggcttgtgcatctggaaggg	17	6	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:237103689C>T	ENST00000330842.6	-	5	1234	c.1140G>A	c.(1138-1140)ccG>ccA	p.P380P	AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000409749.3_Silent_p.P409P			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	409					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		ACTGGTAGAACGGCTTGTGCA	0.542													False	0	False	2:237103689	0	T	237103689	C	T	237103689	2	4	102	1	0	0	0	0	0	0	0	1	1026	523	19	1		1	ASB18	2	237103689	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	57667403	237103689	6095684	23	30027											
OSBPL10	114884	broad.mit.edu	37	chr3	31789494	31789494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcagctgagggtggcaGcagaggtagctttcaggagc	17	8	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:31789494G>A	ENST00000396556.2	-	5	970	c.848C>T	c.(847-849)gCt>gTt	p.A283V	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.A219V	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	283					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GAGGGTGGCAGCAGAGGTAGC	0.637													False	0	False	3:31789494	0	A	31789494	G	A	31789494	3	1	102	1	0	0	0	0	1	0	0	0	11343	971	34	2	1478	2	OSBPL10	3	31789494	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		31789494	166232936	24	30028											
CELSR3	1951	broad.mit.edu	37	chr3	48691126	48691126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgcccgtgtccgaaatgCcagccccaggtaccatggca	11	15	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:48691126C>T	ENST00000544264.1	-	9	5654	c.5374G>A	c.(5374-5376)Gca>Aca	p.A1792T	CELSR3_ENST00000164024.4_Missense_Mutation_p.A1792T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1792	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCGAAATGCCAGCCCCAGG	0.602													False	0	False	3:48691126	0	T	48691126	C	T	48691126	3	4	102	1	0	0	0	0	1	0	0	0	3246	739	26	2	4672	2	CELSR3	3	48691126	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	16901632	48691126	149331304	25	30029											
RNF123	63891	broad.mit.edu	37	chr3	49738081	49738081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacagatccattacctgCggctcactatcgccatcctg	6	17	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:49738081C>T	ENST00000327697.6	+	15	1360	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	RNF123_ENST00000432042.1_Missense_Mutation_p.R260W	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	406						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCATTACCTGCGGCTCACTAT	0.607													False	0	False	3:49738081	0	T	49738081	C	T	49738081	3	4	102	1	0	0	0	0	1	0	0	0	13512	759	27	1	1270	1	RNF123	3	49738081	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	1046955	49738081	148284349	26	30030											
BCHE	590	broad.mit.edu	37	chr3	165547968	165547968	+	Frame_Shift_Del	DEL	T	T	-													gacacttgattatttcagtcTcattctctctagagcaacca							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:165547968delT	ENST00000264381.3	-	2	1020	c.854delA	c.(853-855)gagfs	p.E285fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	285					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TATTTCAGTCTCATTCTCTCT	0.388													False	1	False	3:165547968	0	-	165547968	T	-	165547968	7	5	102	1	0	1	0	1	0	0	0	0	1362	1551	54	0	966	0	BCHE	3	165547968	Frame_Shift_Del	DEL	T	TCGA-IB-A5SP-01A-11D-A32N-08	115809887	165547968	32474462	27	30031											
MECOM	2122	broad.mit.edu	37	chr3	168833756	168833762	+	Frame_Shift_Del	DEL	TTATTAT	TTATTAT	-													aatgattgctgtattctttcTtattatttattgaagccaga							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TTATTAT	TTATTAT	-	-	TTATTAT	TTATTAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:168833756_168833762delTTATTAT	ENST00000464456.1	-	7	2534_2540	c.1334_1340delATAATAA	c.(1333-1341)aataataagfs	p.NNK445fs	MECOM_ENST00000392736.3_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.NNK510fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.NNK633fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.NNK446fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTATTCTTTCTTATTATTTATTGAAGC	0.348													False	1	True	3:168833756	0	-	168833762	TTATTAT	-	168833756	7	5	102	1	0	1	0	1	0	0	0	0	9489	1609	56	0	1855	0	MECOM	3	168833756	Frame_Shift_Del	DEL	TTATTAT	TCGA-IB-A5SP-01A-11D-A32N-08	3285788	168833756	29188674	28	30032											
MCF2L2	23101	broad.mit.edu	37	chr3	183027561	183027561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgctccacgtgcatcacGctgtctccaatgcctgtaaa	7	14	3	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:183027561G>A	ENST00000328913.3	-	10	1353	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	MCF2L2_ENST00000414362.2_Silent_p.S352S|MCF2L2_ENST00000473233.1_Silent_p.S352S|MCF2L2_ENST00000447025.2_Silent_p.S352S	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	352					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGTGCATCACGCTGTCTCCAA	0.448													False	0	False	3:183027561	0	A	183027561	G	A	183027561	2	1	102	1	0	0	0	0	0	0	0	1	9447	1078	38	1		1	MCF2L2	3	183027561	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	14193805	183027561	14994869	29	30033											
PCYT1A	5130	broad.mit.edu	37	chr3	195965646	195965646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtggggaagtcttgccGgagaagggccatcggaaaga	17	7	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:195965646G>A	ENST00000292823.2	-	10	1189	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	PCYT1A_ENST00000419333.1_Silent_p.S339S|PCYT1A_ENST00000431016.1_Silent_p.S339S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	339	3 X repeats.					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AAGTCTTGCCGGAGAAGGGCC	0.607													False	0	False	3:195965646	0	A	195965646	G	A	195965646	2	1	102	1	0	0	0	0	0	0	0	1	11678	1103	39	1		1	PCYT1A	3	195965646	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	12938085	195965646	2056784	30	30034											
GK2	2712	broad.mit.edu	37	chr4	80328648	80328648	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttaggccatagatctcagaaGaactgaagacatttggaaga	10	6	1	6			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:80328648G>C	ENST00000358842.3	-	1	724	c.707C>G	c.(706-708)tCt>tGt	p.S236C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	236					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GATCTCAGAAGAACTGAAGAC	0.413													False	0	False	4:80328648	0	C	80328648	G	C	80328648	3	2	102	1	0	0	0	0	1	0	0	0	6466	942	33	5	958	5	GK2	4	80328648	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		80328648	110825628	31	30035											
NAP1L5	266812	broad.mit.edu	37	chr4	89618369	89618369	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccccccttacttcttggcGtcatcaggcatctcggcgtg	10	15	4	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:89618369G>T	ENST00000323061.5	-	1	1017	c.537C>A	c.(535-537)gaC>gaA	p.D179E	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	179					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		ACTTCTTGGCGTCATCAGGCA	0.557													False	0	False	4:89618369	0	T	89618369	G	T	89618369	3	4	102	1	0	0	0	0	1	0	0	0	10227	1136	40	3	15	3	NAP1L5	4	89618369	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	9289721	89618369	101535907	32	30036											
C4orf17	84103	broad.mit.edu	37	chr4	100460491	100460491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttactgcaaaatcaaaagTgctgaccagagatacagaag	8	7	1	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:100460491T>C	ENST00000514652.1	+	7	1154	c.800T>C	c.(799-801)gTg>gCg	p.V267A	C4orf17_ENST00000326581.4_Missense_Mutation_p.V267A			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	267										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AAATCAAAAGTGCTGACCAGA	0.458													False	0	False	4:100460491	0	C	100460491	T	C	100460491	3	2	102	1	0	0	0	0	1	0	0	0	2269	1696	59	4	822	4	C4orf17	4	100460491	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	10842122	100460491	90693785	33	30037											
CEP72	55722	broad.mit.edu	37	chr5	633946	633946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagcctggtcatggatgCggatgacgaggcagtcctga	16	9	1	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:633946C>T	ENST00000264935.5	+	5	665	c.575C>T	c.(574-576)gCg>gTg	p.A192V	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	192					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTCATGGATGCGGATGACGAG	0.612													False	0	False	5:633946	0	T	633946	C	T	633946	3	4	102	1	0	0	0	0	1	0	0	0	3283	768	27	1	593	1	CEP72	5	633946	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		633946	180281314	34	30038											
C5orf38	153571	broad.mit.edu	37	chr5	2752818	2752818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagcctcccagtcacgtcGagaacgggcaggagctcagg	14	12	2	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:2752818G>A	ENST00000515640.1	+	2	302	c.283G>A	c.(283-285)Gag>Aag	p.E95K	C5orf38_ENST00000334000.3_Missense_Mutation_p.E95K|C5orf38_ENST00000397835.4_Missense_Mutation_p.E95K|C5orf38_ENST00000457752.2_Intron|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000505778.1_Missense_Mutation_p.E95K			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	95						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		CAGTCACGTCGAGAACGGGCA	0.602													False	0	False	5:2752818	0	A	2752818	G	A	2752818	3	1	102	1	0	0	0	0	1	0	0	0	2313	1059	37	1	289	1	C5orf38	5	2752818	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	2118872	2752818	178162442	35	30039											
CWC27	10283	broad.mit.edu	37	chr5	64081398	64081399	+	In_Frame_Ins	INS	-	-	TATAAT													taatccacacaaaataaaaaINSgctgtgaggtaggagcatga							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:64081398_64081399insTATAAT	ENST00000508024.1	+	5	688_689	c.487_488insTATAAT	c.(487-489)agc>aTATAATgc	p.163_163S>I*C	CWC27_ENST00000381070.3_In_Frame_Ins_p.163_163S>I*C			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	163	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						CAAAATAAAAAGCTGTGAGGTA	0.342													False	0	True	5:64081398	0	TATAAT	64081399	-	TATAAT	64081398	7	5	102	1	0	1	1	0	0	0	0	0	4095	72	3	0	505	0	CWC27	5	64081398	In_Frame_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	61328580	64081398	116833862	36	30040	364	2									
CWC27	10283	broad.mit.edu	37	chr5	64081399	64081400	+	In_Frame_Ins	INS	-	-	TAATTGAAAATTATTGCACTCATC													aatccacacaaaataaaaagINSctgtgaggtaggagcatgat							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:64081399_64081400insTAATTGAAAATTATTGCACTCATC	ENST00000508024.1	+	5	689_690	c.488_489insTAATTGAAAATTATTGCACTCATC	c.(487-492)agctgt>agTAATTGAAAATTATTGCACTCATCctgt	p.162_163insSN*KLLHS	CWC27_ENST00000381070.3_In_Frame_Ins_p.162_163insSN*KLLHS			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	162	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAATAAAAAGCTGTGAGGTAG	0.342													False	0	False	5:64081399	0	TAATTGAAAATTATTGCACTCATC	64081400	-	TAATTGAAAATTATTGCACTCATC	64081399	7	5	102	1	0	1	1	0	0	0	0	0	4095	971	34	0	506	0	CWC27	5	64081399	In_Frame_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	1	64081399	116833861	37	30041	364	2									
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	102	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-IB-A5SP-01A-11D-A32N-08	14529045	78610444	102304816	38	30042											
ADAMTS19	171019	broad.mit.edu	37	chr5	128983486	128983486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggagaatgtaccagcaGgacctcagcacctgaacatc	11	12	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:128983486G>A	ENST00000274487.4	+	12	2028	c.1883G>A	c.(1882-1884)aGg>aAg	p.R628K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	628	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTACCAGCAGGACCTCAGCA	0.507													False	0	False	5:128983486	0	A	128983486	G	A	128983486	3	1	102	1	0	0	0	0	1	0	0	0	264	1000	35	2	1929	2	ADAMTS19	5	128983486	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	50373042	128983486	51931774	39	30043											
PCDHA1	0	broad.mit.edu	37	chr5	140166589	140166589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcgacgttaatgataaCgccccactgtttgaccaggc	9	13	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:140166589C>T	ENST00000504120.2	+	1	714	c.714C>T	c.(712-714)aaC>aaT	p.N238N	PCDHA1_ENST00000394633.3_Silent_p.N238N|PCDHA1_ENST00000378133.3_Silent_p.N238N	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAATGATAACGCCCCACTGT	0.488													False	0	False	5:140166589	0	T	140166589	C	T	140166589	2	4	102	1	0	0	0	0	0	0	0	1	11587	535	19	1		1	PCDHA1	5	140166589	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	11183103	140166589	40748671	40	30044											
ADAM19	8728	broad.mit.edu	37	chr5	156915309	156915309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggtgcggggggaattggCcggcttggaggaggcctcct	19	8	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:156915309C>T	ENST00000257527.4	-	21	2592	c.2514G>A	c.(2512-2514)cgG>cgA	p.R838R	ADAM19_ENST00000394020.1_Silent_p.R840R|ADAM19_ENST00000517905.1_Silent_p.R838R|ADAM19_ENST00000430702.2_Silent_p.R571R	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	838					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGAATTGGCCGGCTTGGAG	0.567													False	0	False	5:156915309	0	T	156915309	C	T	156915309	2	4	102	1	0	0	0	0	0	0	0	1	240	726	26	2		2	ADAM19	5	156915309	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	16748720	156915309	23999951	41	30045											
STK10	6793	broad.mit.edu	37	chr5	171583761	171583761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtttcaatgactttggccGcagccaaagcacccgtctcc	9	14	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:171583761G>A	ENST00000176763.5	-	2	531	c.188C>T	c.(187-189)gCg>gTg	p.A63V		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	63	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACTTTGGCCGCAGCCAAAGC	0.547													False	0	False	5:171583761	0	A	171583761	G	A	171583761	3	1	102	1	0	0	0	0	1	0	0	0	15368	1087	38	1	2790	1	STK10	5	171583761	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	14668452	171583761	9331499	42	30046											
COL23A1	91522	broad.mit.edu	37	chr5	177688748	177688748	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctgggggtccctttgggCcctggaacaagagaagagaa	15	10	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:177688748C>A	ENST00000390654.3	-	11	1034	c.677G>T	c.(676-678)gGc>gTc	p.G226V	COL23A1_ENST00000407622.1_Splice_Site_p.G190V	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	226	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCCCTTTGGGCCCTGGAACAA	0.562													False	0	True	5:177688748	0	A	177688748	C	A	177688748	5	1	102	1	0	0	0	0	0	0	1	0	3705	753	26	3	1021	3	COL23A1	5	177688748	Splice_Site	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	6104987	177688748	3226512	43	30047											
RREB1	6239	broad.mit.edu	37	chr6	7230570	7230570	+	Frame_Shift_Del	DEL	C	C	-													agcgcggccgagctggtggaCgccttctgcgccccggacac							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:7230570delC	ENST00000379938.2	+	10	2775	c.2238delC	c.(2236-2238)gacfs	p.D746fs	RREB1_ENST00000379933.3_Frame_Shift_Del_p.D746fs|RREB1_ENST00000334984.6_Frame_Shift_Del_p.D746fs|RREB1_ENST00000349384.6_Frame_Shift_Del_p.D746fs	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	746					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCTGGTGGACGCCTTCTGCG	0.662													False	1	False	6:7230570	0	-	7230570	C	-	7230570	7	5	102	1	0	1	0	1	0	0	0	0	13758	535	19	0	2264	0	RREB1	6	7230570	Frame_Shift_Del	DEL	C	TCGA-IB-A5SP-01A-11D-A32N-08		7230570	163884497	44	30048											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124800	26124800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgtccttcctaacatccagGccgtgcttctgcctaagaag	9	14	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:26124800G>T	ENST00000602637.1	+	1	370	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.A114S			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	114					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						TAACATCCAGGCCGTGCTTCT	0.582													False	0	False	6:26124800	0	T	26124800	G	T	26124800	3	4	102	1	0	0	0	0	1	0	0	0	7177	1203	42	3	342	3	HIST1H2AC	6	26124800	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	18894230	26124800	144990267	45	30049											
CUL9	23113	broad.mit.edu	37	chr6	43155033	43155033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgggctgtaccctttgccGtacctccagcccgaacctca	9	16	1	0	rs148427416		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:43155033G>A	ENST00000252050.4	+	6	1521	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	CUL9_ENST00000372647.2_Silent_p.P479P|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	479					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCCTTTGCCGTACCTCCAGC	0.532													False	0	False	6:43155033	0	A	43155033	G	A	43155033	2	1	102	1	0	0	0	0	0	0	0	1	4086	1132	40	1		1	CUL9	6	43155033	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	17030233	43155033	127960034	46	30050											
RCAN2	10231	broad.mit.edu	37	chr6	46214487	46214487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaccgcaaagcttacctGgtcctagtttggccacagca	10	12	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:46214487G>A	ENST00000371374.1	-	4	760	c.569C>T	c.(568-570)cCa>cTa	p.P190L	RCAN2_ENST00000306764.7_Missense_Mutation_p.P190L|RCAN2_ENST00000330430.6_Missense_Mutation_p.P144L|RCAN2_ENST00000405162.1_Missense_Mutation_p.P190L	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	144					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AAGCTTACCTGGTCCTAGTTT	0.488													False	0	False	6:46214487	0	A	46214487	G	A	46214487	3	1	102	1	0	0	0	0	1	0	0	0	13248	1348	47	2	170	2	RCAN2	6	46214487	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	3059454	46214487	124900580	47	30051											
GRM1	2911	broad.mit.edu	37	chr6	146755420	146755420	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agcagcagcagcaaccccctCcacagcagaaatcgctgatg	9	15	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:146755420C>G	ENST00000361719.2	+	9	3543	c.3073C>G	c.(3073-3075)Cca>Gca	p.P1025A	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1025A|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1025	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCAACCCCCTCCACAGCAGAA	0.662													False	0	False	6:146755420	0	G	146755420	C	G	146755420	3	3	102	1	0	0	0	0	1	0	0	0	6843	855	30	5	3168	5	GRM1	6	146755420	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	100540933	146755420	24359647	48	30052											
TIAM2	26230	broad.mit.edu	37	chr6	155458639	155458639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaacagggggtggtccGgaaggccgggtggctcttct	19	8	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:155458639G>A	ENST00000461783.3	+	7	2796	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q	TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	508	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGGGTGGTCCGGAAGGCCGGG	0.542													False	0	False	6:155458639	0	A	155458639	G	A	155458639	3	1	102	1	0	0	0	0	1	0	0	0	15973	1116	39	1	1529	1	TIAM2	6	155458639	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	8703219	155458639	15656428	49	30053											
RNF216	54476	broad.mit.edu	37	chr7	5662580	5662580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgaagtcatagttgacccGcacgttgggcagagggggca	15	10	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:5662580G>A	ENST00000425013.2	-	17	2736	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	RNF216_ENST00000389902.3_Missense_Mutation_p.R895W|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	838	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.R895W(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTTGACCCGCACGTTGGGC	0.642													False	0	True	7:5662580	0	A	5662580	G	A	5662580	3	1	102	1	0	0	0	0	1	0	0	0	13559	1086	38	1	92	1	RNF216	7	5662580	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		5662580	153476083	50	30054											
HDAC9	9734	broad.mit.edu	37	chr7	18668998	18668998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccaacttgaaggtgcgGtccaggttaaaacagaaagt	12	8	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:18668998G>A	ENST00000406451.4	+	7	831	c.681G>A	c.(679-681)cgG>cgA	p.R227R	HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000432645.2_Silent_p.R227R|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000405010.3_Silent_p.R227R|HDAC9_ENST00000456174.2_Silent_p.R199R|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000441542.2_Silent_p.R230R	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9		Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGAAGGTGCGGTCCAGGTTAA	0.408													False	0	False	7:18668998	0	A	18668998	G	A	18668998	2	1	102	1	0	0	0	0	0	0	0	1	7061	1248	44	2		2	HDAC9	7	18668998	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	13006418	18668998	140469665	51	30055											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	102	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-IB-A5SP-01A-11D-A32N-08	25484780	44153778	114984885	52	30056											
ELN	2006	broad.mit.edu	37	chr7	73474273	73474290	+	In_Frame_Del	DEL	TGGCTCCTGGAGTTGGCT	TGGCTCCTGGAGTTGGCT	-													cgtggctcctggtgtcggtgTggctcctggagttggcttgg					rs56307747		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TGGCTCCTGGAGTTGGCT	TGGCTCCTGGAGTTGGCT	-	-	TGGCTCCTGGAGTTGGCT	TGGCTCCTGGAGTTGGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:73474273_73474290delTGGCTCCTGGAGTTGGCT	ENST00000252034.7	+	23	1871_1888	c.1472_1489delTGGCTCCTGGAGTTGGCT	c.(1471-1491)gtggctcctggagttggcttg>gtg	p.APGVGL492del	ELN_ENST00000458204.1_In_Frame_Del_p.APGVGL482del|ELN_ENST00000445912.1_In_Frame_Del_p.APGVGL492del|ELN_ENST00000320492.7_In_Frame_Del_p.APGVGL411del|ELN_ENST00000429192.1_In_Frame_Del_p.APGVGL478del|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_In_Frame_Del_p.APGVGL468del|ELN_ENST00000380553.4_In_Frame_Del_p.APGVGL356del|ELN_ENST00000380562.4_In_Frame_Del_p.APGVGL498del|ELN_ENST00000380575.4_In_Frame_Del_p.APGVGL463del|ELN_ENST00000380576.5_In_Frame_Del_p.APGVGL473del|ELN_ENST00000380584.4_In_Frame_Del_p.APGVGL459del|ELN_ENST00000358929.4_In_Frame_Del_p.APGVGL527del|ELN_ENST00000357036.5_In_Frame_Del_p.APGVGL497del|ELN_ENST00000320399.6_In_Frame_Del_p.APGVGL492del	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	521	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGTGTCGGTGTGGCTCCTGGAGTTGGCTTGGCTCCTGG	0.592			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						False	1	False	7:73474273	0	-	73474290	TGGCTCCTGGAGTTGGCT	-	73474273	7	5	102	1	0	1	0	1	0	0	0	0	5103	1696	59	0	1577	0	ELN	7	73474273	In_Frame_Del	DEL	TGGCTCCTGGAGTTGGCT	TCGA-IB-A5SP-01A-11D-A32N-08	29320495	73474273	85664390	53	30057											
NRF1	4899	broad.mit.edu	37	chr7	129349051	129349051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtccggagtgatgtccGcacagaagagcaaaagcaga	12	8	0	4			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:129349051G>A	ENST00000393232.1	+	6	860	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NRF1_ENST00000311967.2_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H|NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	248					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.R248L(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AGTGATGTCCGCACAGAAGAG	0.493													False	0	False	7:129349051	0	A	129349051	G	A	129349051	3	1	102	1	0	0	0	0	1	0	0	0	10714	1087	38	1	761	1	NRF1	7	129349051	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	55874778	129349051	29789612	54	30058											
TMEM140	55281	broad.mit.edu	37	chr7	134849251	134849251	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttcatgagcatcatagtcCtcgtgattgtggtcatctgc	10	9	4	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:134849251C>A	ENST00000275767.3	+	2	281	c.58C>A	c.(58-60)Ctc>Atc	p.L20I	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140							integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CATCATAGTCCTCGTGATTGT	0.582													False	0	False	7:134849251	0	A	134849251	C	A	134849251	3	1	102	1	0	0	0	0	1	0	0	0	16137	681	24	3	60	3	TMEM140	7	134849251	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	5500200	134849251	24289412	55	30059											
RRS1	23212	broad.mit.edu	37	chr8	67341954	67341954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtaacctggcccgcgcGcacaagatgcagctgcccag	12	16	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:67341954G>A	ENST00000320270.2	+	1	692	c.588G>A	c.(586-588)gcG>gcA	p.A196A		NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	196					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus				kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGGCCCGCGCGCACAAGATGC	0.652													False	0	True	8:67341954	0	A	67341954	G	A	67341954	2	1	102	1	0	0	0	0	0	0	0	1	13771	1074	38	1		1	RRS1	8	67341954	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		67341954	79022068	56	30060											
CYP11B1	0	broad.mit.edu	37	chr8	143958154	143958154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccacaccttggggctgGtccagcgagacaggctcctg	12	15	0	1	rs34620645	by1000genomes	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:143958154G>A	ENST00000292427.4	-	4	775	c.743C>T	c.(742-744)aCc>aTc	p.T248I	CYP11B1_ENST00000517471.1_Missense_Mutation_p.T248I|CYP11B1_ENST00000377675.3_Missense_Mutation_p.T319I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	248			T -> I (in dbSNP:rs34620645).		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTTGGGGCTGGTCCAGCGAGA	0.602									Familial Hyperaldosteronism type I				False	0	False	8:143958154	0	A	143958154	G	A	143958154	3	1	102	1	0	0	0	0	1	0	0	0	4170	1261	44	2	792	2	CYP11B1	8	143958154	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	76616200	143958154	2405868	57	30061											
FOXD4	2298	broad.mit.edu	37	chr9	117757	117757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcgtgaggcgcttgtgCgggctttgcaggatggccat	17	9	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:117757C>T	ENST00000382500.2	-	1	660	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	121					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGCGCTTGTGCGGGCTTTGCA	0.652													False	0	True	9:117757	0	T	117757	C	T	117757	2	4	102	1	0	0	0	0	0	0	0	1	6039	755	27	1		1	FOXD4	9	117757	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		117757	141095674	58	30062											
VLDLR	7436	broad.mit.edu	37	chr9	2648807	2648817	+	Splice_Site	DEL	TCAGGTACCGT	TCAGGTACCGT	-													atcatgaacttgtacagccaTcaggtaccgtggagaagcac							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TCAGGTACCGT	TCAGGTACCGT	-	-	TCAGGTACCGT	TCAGGTACCGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:2648807_2648817delTCAGGTACCGT	ENST00000382100.2	+	14	2457_2460	c.2101_2104delTCAGGTACCGT	c.(2101-2106)tcaggt>gt	p.SG701fs	VLDLR_ENST00000382099.2_Splice_Site_p.SG701fs	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	701					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGTACAGCCATCAGGTACCGTGGAGAAGCAC	0.441													False	1	False	9:2648807	0	-	2648817	TCAGGTACCGT	-	2648807	8	5	102	1	0	1	0	1	0	0	1	0	17258	1435	50	0	2155	0	VLDLR	9	2648807	Splice_Site	DEL	TCAGGTACCGT	TCGA-IB-A5SP-01A-11D-A32N-08	2531050	2648807	138564624	59	30063											
KIAA1432	57589	broad.mit.edu	37	chr9	5762622	5762623	+	Frame_Shift_Ins	INS	-	-	ATAAGGTTTATAGGTCAAACAATCTACATTATTTATT													caggtcaggcccacagatccINSgggagaaggacagtaaccct					rs145869379		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:5762622_5762623insATAAGGTTTATAGGTCAAACAATCTACATTATTTATT	ENST00000414202.2	+	18	2265_2266	c.2074_2075insATAAGGTTTATAGGTCAAACAATCTACATTATTTATT	c.(2074-2076)cggfs	p.R692fs	KIAA1432_ENST00000381532.2_Frame_Shift_Ins_p.R613fs|KIAA1432_ENST00000251879.6_Frame_Shift_Ins_p.R692fs|KIAA1432_ENST00000449720.2_Frame_Shift_Ins_p.R576fs|KIAA1432_ENST00000418622.3_Frame_Shift_Ins_p.R613fs	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	692						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCCACAGATCCGGGAGAAGGAC	0.436													False	0	True	9:5762622	0	ATAAGGTTTATAGGTCAAACAATCTACATTATTTATT	5762623	-	ATAAGGTTTATAGGTCAAACAATCTACATTATTTATT	5762622	7	5	102	1	0	1	1	0	0	0	0	0	8283	643	23	0	1903	0	KIAA1432	9	5762622	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	3113815	5762622	135450809	60	30064											
GCNT1	2650	broad.mit.edu	37	chr9	79118080	79118080	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaagaagcggtatgaggtCgttaatggaaagctgacaaa	14	4	0	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:79118080C>T	ENST00000442371.1	+	3	1722	c.783C>T	c.(781-783)gtC>gtT	p.V261V	GCNT1_ENST00000536223.1_Silent_p.V261V|GCNT1_ENST00000376730.4_Silent_p.V261V|GCNT1_ENST00000444201.2_Silent_p.V261V	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	261	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GGTATGAGGTCGTTAATGGAA	0.463													False	0	False	9:79118080	0	T	79118080	C	T	79118080	2	4	102	1	0	0	0	0	0	0	0	1	6343	871	31	1		1	GCNT1	9	79118080	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	73355458	79118080	62095351	61	30065											
PRUNE2	158471	broad.mit.edu	37	chr9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatcactggggattgccGcacccccactgcagtcatcc	9	17	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:79323756G>A	ENST00000428286.1	-	8	3557	c.2357C>T	c.(2356-2358)gCg>gTg	p.A786V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1145V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1145					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGGATTGCCGCACCCCCACT	0.522													False	0	False	9:79323756	0	A	79323756	G	A	79323756	3	1	102	1	0	0	0	0	1	0	0	0	12717	1087	38	1	5880	1	PRUNE2	9	79323756	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	205676	79323756	61889675	62	30066											
ABCA1	19	broad.mit.edu	37	chr9	107556682	107556682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccaaacctttccaggGcatcagccattgcctggttt	7	14	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:107556682G>A	ENST00000374736.3	-	40	5886	c.5492C>T	c.(5491-5493)gCc>gTc	p.A1831V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1831					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTTTCCAGGGCATCAGCCAT	0.468													False	0	True	9:107556682	0	A	107556682	G	A	107556682	3	1	102	1	0	0	0	0	1	0	0	0	28	1203	42	2	1337	2	ABCA1	9	107556682	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	28232926	107556682	33656749	63	30067											
ZNF883	169834	broad.mit.edu	37	chr9	115759599	115759599	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtttctctcctgtatgcGtcctctgatgtcgaattagt	10	9	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:115759599G>A	ENST00000427548.1	-	0	2214							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCCTGTATGCGTCCTCTGATG	0.378													False	0	False	9:115759599	0	A	115759599	G	A	115759599	1	1	102	0	1	0	0	0	0	0	0	0	18280	1145	40	1		1	ZNF883	9	115759599	RNA	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	8202917	115759599	25453832	64	30068											
PRPF4	9128	broad.mit.edu	37	chr9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaacctggcctcttgtgCggctgatggctctgtgaagc	13	11	3	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:116049072C>T	ENST00000374199.4	+	9	1297	c.896C>T	c.(895-897)gCg>gTg	p.A299V	PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468													False	0	False	9:116049072	0	T	116049072	C	T	116049072	3	4	102	1	0	0	0	0	1	0	0	0	12646	768	27	1	933	1	PRPF4	9	116049072	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	289473	116049072	25164359	65	30069											
TNC	3371	broad.mit.edu	37	chr9	117791722	117791722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttctcgcgtccgtttttgCgtctcaggaacacctataaa	8	11	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:117791722C>T	ENST00000350763.4	-	25	6497	c.6086G>A	c.(6085-6087)cGc>cAc	p.R2029H	TNC_ENST00000535648.1_Missense_Mutation_p.R1574H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H|TNC_ENST00000423613.2_Missense_Mutation_p.R1756H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H|TNC_ENST00000340094.3_Missense_Mutation_p.R1665H|TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000341037.4_Missense_Mutation_p.R1847H|TNC_ENST00000542877.1_Missense_Mutation_p.R1666H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2029	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCGTTTTTGCGTCTCAGGAA	0.488													False	0	False	9:117791722	0	T	117791722	C	T	117791722	3	4	102	1	0	0	0	0	1	0	0	0	16352	768	27	1	535	1	TNC	9	117791722	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	1742650	117791722	23421709	66	30070											
NOTCH1	4851	broad.mit.edu	37	chr9	139404265	139404265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacgtgtagctgtccacGcagtccgtgcagttggcccc	13	14	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:139404265G>A	ENST00000277541.6	-	18	2964	c.2889C>T	c.(2887-2889)tgC>tgT	p.C963C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	963	EGF-like 25; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGCTGTCCACGCAGTCCGTGC	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			False	0	False	9:139404265	0	A	139404265	G	A	139404265	2	1	102	1	0	0	0	0	0	0	0	1	10615	1079	38	1		1	NOTCH1	9	139404265	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	21612543	139404265	1809166	67	30071											
GATA3	2625	broad.mit.edu	37	chr10	8100716	8100716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctacgtgcccgagtacagCtccggactcttcccccccag	8	20	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:8100716C>A	ENST00000379328.3	+	3	1258	c.690C>A	c.(688-690)agC>agA	p.S230R	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.S230R	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	230					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCGAGTACAGCTCCGGACTCT	0.697			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						False	0	False	10:8100716	0	A	8100716	C	A	8100716	3	1	102	1	0	0	0	0	1	0	0	0	6298	796	28	3	696	3	GATA3	10	8100716	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		8100716	127434031	68	30072											
PCDH15	65217	broad.mit.edu	37	chr10	55912915	55912915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgtgagtgcgtaagtccGcccgactatcatttccaccc	9	15	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:55912915G>A	ENST00000373965.2	-	15	2144	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.R555W|PCDH15_ENST00000361849.3_Missense_Mutation_p.R577W|PCDH15_ENST00000373955.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395438.1_Missense_Mutation_p.R577W|PCDH15_ENST00000409834.1_Missense_Mutation_p.R188W|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.R582W|PCDH15_ENST00000395446.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395432.2_Missense_Mutation_p.R540W|PCDH15_ENST00000395433.1_Missense_Mutation_p.R555W|PCDH15_ENST00000437009.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395430.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395445.1_Missense_Mutation_p.R584W|PCDH15_ENST00000320301.6_Missense_Mutation_p.R577W	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	577	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCGTAAGTCCGCCCGACTATC	0.483										HNSCC(58;0.16)			False	0	True	10:55912915	0	A	55912915	G	A	55912915	3	1	102	1	0	0	0	0	1	0	0	0	11579	1086	38	1	5837	1	PCDH15	10	55912915	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	47812199	55912915	79621832	69	30073											
P4HA1	5033	broad.mit.edu	37	chr10	74828652	74828652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtatccaaattgtaggtatCctggagacgtaacagagctt	10	7	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:74828652C>A	ENST00000412021.2	-	6	748	c.415G>T	c.(415-417)Gat>Tat	p.D139Y	P4HA1_ENST00000263556.3_Missense_Mutation_p.D139Y|P4HA1_ENST00000394890.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000307116.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000440381.1_Missense_Mutation_p.D139Y|P4HA1_ENST00000373008.2_Missense_Mutation_p.D139Y	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	139						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTGTAGGTATCCTGGAGACGT	0.398													False	0	False	10:74828652	0	A	74828652	C	A	74828652	3	1	102	1	0	0	0	0	1	0	0	0	11424	855	30	3	1308	3	P4HA1	10	74828652	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	18915737	74828652	60706095	70	30074											
TACC2	10579	broad.mit.edu	37	chr10	123843041	123843041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgggagcatatctgccGcacgcagagctgccctgggg	15	13	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:123843041G>A	ENST00000369005.1	+	4	1366	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	TACC2_ENST00000334433.3_Silent_p.P342P|TACC2_ENST00000515603.1_Silent_p.P342P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.P342P|TACC2_ENST00000515273.1_Silent_p.P342P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	342						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATATCTGCCGCACGCAGAGC	0.632													False	0	True	10:123843041	0	A	123843041	G	A	123843041	2	1	102	1	0	0	0	0	0	0	0	1	15584	1074	38	1		1	TACC2	10	123843041	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	49014389	123843041	11691706	71	30075											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077764	19077764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgtagacagagaaggcGttcctgcgcatgcggaagcc	15	10	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:19077764G>A	ENST00000329773.2	-	2	273	c.186C>T	c.(184-186)aaC>aaT	p.N62N		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	62			N -> S (in dbSNP:rs10833049).		sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CAGAGAAGGCGTTCCTGCGCA	0.557													False	0	False	11:19077764	0	A	19077764	G	A	19077764	2	1	102	1	0	0	0	0	0	0	0	1	9834	1136	40	1		1	MRGPRX2	11	19077764	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		19077764	115928752	72	30076											
SHANK2	22941	broad.mit.edu	37	chr11	70332638	70332638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggcatccaggctgggccGcattttggtatcaatgtaaa	12	10	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:70332638G>A	ENST00000338508.4	-	32	3762	c.3763C>T	c.(3763-3765)Cgg>Tgg	p.R1255W	SHANK2_ENST00000409161.1_Missense_Mutation_p.R658W|SHANK2_ENST00000423696.2_Missense_Mutation_p.R875W|SHANK2_ENST00000449833.2_Missense_Mutation_p.R659W			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	875					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGCTGGGCCGCATTTTGGTA	0.617													False	0	False	11:70332638	0	A	70332638	G	A	70332638	3	1	102	1	0	0	0	0	1	0	0	0	14346	1086	38	1	1797	1	SHANK2	11	70332638	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	51254874	70332638	64673878	73	30077											
C11orf82	220042	broad.mit.edu	37	chr11	82645017	82645017	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccttcagatatgcttggAttccaaggcataggtctagg	10	8	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:82645017A>C	ENST00000533655.1	+	6	2849	c.2637A>C	c.(2635-2637)ggA>ggC	p.G879G	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Silent_p.G578G|C11orf82_ENST00000430323.2_Silent_p.G879G	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	879					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATATGCTTGGATTCCAAGGCA	0.408													False	0	False	11:82645017	0	C	82645017	A	C	82645017	2	2	102	1	0	0	0	0	0	0	0	1	1673	320	12	4		4	C11orf82	11	82645017	Silent	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	12312379	82645017	52361499	74	30078											
SIK3	23387	broad.mit.edu	37	chr11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-													ggtattcttgctgttgctgcTgttgctgctgctgctgccgt					rs539858	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596													False	1	True	11:116729011	0	-	116729013	TGT	-	116729011	7	5	102	1	0	1	0	1	0	0	0	0	14400	1580	55	0	955	0	SIK3	11	116729011	In_Frame_Del	DEL	TGT	TCGA-IB-A5SP-01A-11D-A32N-08	34083994	116729011	18277505	75	30079											
FXYD6	53826	broad.mit.edu	37	chr11	117711040	117711040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggacagttaccattggCggtgatgaggttctccacct	11	11	2	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:117711040C>T	ENST00000526014.1	-	6	848	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	FXYD6_ENST00000584230.1_Missense_Mutation_p.A85T|FXYD6_ENST00000527717.1_Missense_Mutation_p.A85T|FXYD6_ENST00000530956.1_Missense_Mutation_p.A85T|FXYD6_ENST00000524656.1_Missense_Mutation_p.A85T|FXYD6-FXYD2_ENST00000532984.1_Silent_p.P72P|FXYD6_ENST00000540359.1_Missense_Mutation_p.A85T|FXYD6_ENST00000527429.1_Missense_Mutation_p.A85T|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000529335.2_Intron|FXYD6_ENST00000260282.4_Missense_Mutation_p.A85T|FXYD6_ENST00000539526.1_Missense_Mutation_p.A85T	NM_022003.3	NP_071286.1			FXYD domain containing ion transport regulator 6											central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		TTACCATTGGCGGTGATGAGG	0.597													False	0	False	11:117711040	0	T	117711040	C	T	117711040	3	4	102	1	0	0	0	0	1	0	0	0	6164	768	27	1	42	1	FXYD6	11	117711040	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	982029	117711040	17295476	76	30080											
NCAPD3	23310	broad.mit.edu	37	chr11	134054844	134054844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagatgctttgcaatatgCccaatcacacagagaatatg	9	8	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:134054844C>T	ENST00000534548.2	-	18	2353	c.2289G>A	c.(2287-2289)ggG>ggA	p.G763G	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	763					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTGCAATATGCCCAATCACAC	0.438													False	0	True	11:134054844	0	T	134054844	C	T	134054844	2	4	102	1	0	0	0	0	0	0	0	1	10274	726	26	2		2	NCAPD3	11	134054844	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	16343804	134054844	951672	77	30081											
CACNA1C	775	broad.mit.edu	37	chr12	2716164	2716164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaggggcaactacatcaCgtacaaagacggggaggttg	13	9	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:2716164C>T	ENST00000399655.1	+	26	3489	c.3224C>T	c.(3223-3225)aCg>aTg	p.T1075M	CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1075M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1100M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1075M|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1075M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1095					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AACTACATCACGTACAAAGAC	0.557													False	0	False	12:2716164	0	T	2716164	C	T	2716164	3	4	102	1	0	0	0	0	1	0	0	0	2560	536	19	1	3498	1	CACNA1C	12	2716164	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		2716164	131135731	78	30082											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	102	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	22682120	25398284	108453611	79	30083											
TMEM117	84216	broad.mit.edu	37	chr12	44782362	44782362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagtcttcccacctaacCtcggaaaacttgagctcaca	5	14	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:44782362C>T	ENST00000266534.3	+	8	1579	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.T380T	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	484						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CCCACCTAACCTCGGAAAACT	0.453													False	0	False	12:44782362	0	T	44782362	C	T	44782362	2	4	102	1	0	0	0	0	0	0	0	1	16113	668	24	2		2	TMEM117	12	44782362	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	19384078	44782362	89069533	80	30084											
BIN2	51411	broad.mit.edu	37	chr12	51685485	51685486	+	In_Frame_Ins	INS	-	-	TTGGGTATTTAATTTAATTAATTT													ggcttctctggtggttctggINSattaggagagacctctaggg							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:51685485_51685486insTTGGGTATTTAATTTAATTAATTT	ENST00000267012.4	-	10	1465_1466	c.1404_1405insAAATTAATTAAATTAAATACCCAA	c.(1402-1407)aatcca>aatAAATTAATTAAATTAAATACCCAAcca	p.468_469NP>NKLIKLNTQP	BIN2_ENST00000452142.2_In_Frame_Ins_p.436_437NP>NKLIKLNTQP|BIN2_ENST00000604560.1_In_Frame_Ins_p.441_442NP>NKLIKLNTQP|BIN2_ENST00000544402.1_In_Frame_Ins_p.442_443NP>NKLIKLNTQP	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	468	Pro-rich.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GGTGGTTCTGGATTAGGAGAGA	0.535													False	0	False	12:51685485	0	TTGGGTATTTAATTTAATTAATTT	51685486	-	TTGGGTATTTAATTTAATTAATTT	51685485	7	5	102	1	0	1	1	0	0	0	0	0	1438	1174	41	0	308	0	BIN2	12	51685485	In_Frame_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	6903123	51685485	82166410	81	30085											
R3HDM2	22864	broad.mit.edu	37	chr12	57677715	57677715	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttggtgacagggggtcGcatgctccggacagagccat	15	10	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:57677715G>A	ENST00000402412.1	-	13	1453	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000347140.3_Nonsense_Mutation_p.R341*|R3HDM2_ENST00000413953.2_Nonsense_Mutation_p.R68*|R3HDM2_ENST00000441731.2_Nonsense_Mutation_p.R2*|R3HDM2_ENST00000358907.2_Nonsense_Mutation_p.R341*|R3HDM2_ENST00000403821.2_Nonsense_Mutation_p.R341*			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	341	Ser-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						ACAGGGGGTCGCATGCTCCGG	0.592													False	0	False	12:57677715	0	A	57677715	G	A	57677715	4	1	102	1	0	0	0	0	0	1	0	0	12967	1095	38	1	1957	1	R3HDM2	12	57677715	Nonsense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	5992230	57677715	76174180	82	30086											
TRPV4	59341	broad.mit.edu	37	chr12	110236628	110236628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgcgagtcctggcgccGcatgtccgccttcttgtggg	14	15	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:110236628G>A	ENST00000418703.2	-	5	1037	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	TRPV4_ENST00000346520.2_Missense_Mutation_p.R315W|TRPV4_ENST00000544971.1_Missense_Mutation_p.R268W|TRPV4_ENST00000536838.1_Missense_Mutation_p.R281W|TRPV4_ENST00000537083.1_Missense_Mutation_p.R315W|TRPV4_ENST00000541794.1_Missense_Mutation_p.R268W|TRPV4_ENST00000392719.2_Missense_Mutation_p.R268W|TRPV4_ENST00000261740.2_Missense_Mutation_p.R315W	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	315			R -> W (in CMT2C).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCCTGGCGCCGCATGTCCGCC	0.612													False	0	False	12:110236628	0	A	110236628	G	A	110236628	3	1	102	1	0	0	0	0	1	0	0	0	16681	1086	38	1	1716	1	TRPV4	12	110236628	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	52558913	110236628	23615267	83	30087											
SDSL	113675	broad.mit.edu	37	chr12	113873183	113873183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagcagtgctgaggaccCcaccaggtgccctggtgctg	14	12	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:113873183C>T	ENST00000403593.4	+	6	755	c.493C>T	c.(493-495)Cca>Tca	p.P165S	SDSL_ENST00000345635.4_Missense_Mutation_p.P165S			Q96GA7	SDSL_HUMAN	serine dehydratase-like	165					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GCTGAGGACCCCACCAGGTGC	0.682													False	0	True	12:113873183	0	T	113873183	C	T	113873183	3	4	102	1	0	0	0	0	1	0	0	0	14057	623	22	2	511	2	SDSL	12	113873183	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	3636555	113873183	19978712	84	30088											
PITPNM2	57605	broad.mit.edu	37	chr12	123472784	123472784	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccgggggaccctcacccgCagcttcacgtgggtccgctt	13	17	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:123472784C>A	ENST00000280562.5	-	19	3181	c.2976G>T	c.(2974-2976)ctG>ctT	p.L992L	PITPNM2_ENST00000542749.1_Silent_p.L998L|PITPNM2_ENST00000392428.1_Silent_p.L719L|PITPNM2_ENST00000320201.4_Silent_p.L998L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCCTCACCCGCAGCTTCACGT	0.627													False	0	False	12:123472784	0	A	123472784	C	A	123472784	2	1	102	1	0	0	0	0	0	0	0	1	12020	697	25	3		3	PITPNM2	12	123472784	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	9599601	123472784	10379111	85	30089											
CCDC92	80212	broad.mit.edu	37	chr12	124428832	124428832	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actctaccttcatcgtaactCgagaaatgtggtgaagtcat	8	9	3	2	rs148809811		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:124428832C>T	ENST00000238156.3	-	2	375	c.21G>A	c.(19-21)tcG>tcA	p.S7S	CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545891.1_Intron|CCDC92_ENST00000545135.1_5'UTR	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	7										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CATCGTAACTCGAGAAATGTG	0.498													False	0	False	12:124428832	0	T	124428832	C	T	124428832	2	4	102	1	0	0	0	0	0	0	0	1	2892	871	31	1		1	CCDC92	12	124428832	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	956048	124428832	9423063	86	30090											
GOLGA3	2802	broad.mit.edu	37	chr12	133365860	133365860	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtggcgtcgcgccggTaggcctccaccatcacctgc	14	15	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:133365860T>G	ENST00000204726.3	-	13	3122	c.2564A>C	c.(2563-2565)tAc>tCc	p.Y855S	GOLGA3_ENST00000456883.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Y855S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	855					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCGCGCCGGTAGGCCTCCAC	0.637													False	0	False	12:133365860	0	G	133365860	T	G	133365860	3	3	102	1	0	0	0	0	1	0	0	0	6599	1638	57	4	2118	4	GOLGA3	12	133365860	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	8937028	133365860	486035	87	30091											
GPC5	2262	broad.mit.edu	37	chr13	92380846	92380846	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagcccccgttgttcttttGatcagagcaaagagaagcat	9	9	2	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:92380846G>T	ENST00000377067.3	+	4	1453	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	361						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTGTTCTTTTGATCAGAGCAA	0.398													False	0	True	13:92380846	0	T	92380846	G	T	92380846	3	4	102	1	0	0	0	0	1	0	0	0	6647	1290	45	3	1095	3	GPC5	13	92380846	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		92380846	22789032	88	30092											
RASA3	22821	broad.mit.edu	37	chr13	114773065	114773065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtctcttctccccgaggaCgaaatcagatccaagaacta	9	12	3	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:114773065C>T	ENST00000334062.7	-	18	1807	c.1686G>A	c.(1684-1686)tcG>tcA	p.S562S	RASA3_ENST00000389544.4_Silent_p.S530S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	562					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCCCCGAGGACGAAATCAGAT	0.552													False	0	False	13:114773065	0	T	114773065	C	T	114773065	2	4	102	1	0	0	0	0	0	0	0	1	13141	523	19	1		1	RASA3	13	114773065	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	22392219	114773065	396813	89	30093											
MAP3K9	4293	broad.mit.edu	37	chr14	71209085	71209085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagaagggaggctgatgCggttgccatccttgagcttc	14	10	0	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:71209085C>T	ENST00000554752.2	-	6	1549	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R211H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R517H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R517H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R254H	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	517				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGCTGATGCGGTTGCCATC	0.602													False	0	False	14:71209085	0	T	71209085	C	T	71209085	3	4	102	1	0	0	0	0	1	0	0	0	9324	768	27	1	1838	1	MAP3K9	14	71209085	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		71209085	36140455	90	30094											
KIF26A	26153	broad.mit.edu	37	chr14	104642766	104642766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagcctcccccggaaacCgaggactgcctctgccacca	8	20	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:104642766C>T	ENST00000315264.7	+	11	3602	c.3224C>T	c.(3223-3225)cCg>cTg	p.P1075L	KIF26A_ENST00000423312.2_Missense_Mutation_p.P1214L			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1214					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCCGGAAACCGAGGACTGCC	0.721													False	0	False	14:104642766	0	T	104642766	C	T	104642766	3	4	102	1	0	0	0	0	1	0	0	0	8344	652	23	1	3687	1	KIF26A	14	104642766	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	33433681	104642766	2706774	91	30095											
PPIP5K1	9677	broad.mit.edu	37	chr15	43827457	43827457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccataggtggcacctgtggGgactgatttggttcaaaaag	13	7	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:43827457G>A	ENST00000420765.1	-	31	3899	c.3717C>T	c.(3715-3717)tcC>tcT	p.S1239S	PPIP5K1_ENST00000396923.3_Silent_p.S1239S|PPIP5K1_ENST00000334933.4_Silent_p.S1214S|PPIP5K1_ENST00000360135.4_Silent_p.S1212S|PPIP5K1_ENST00000381885.1_Silent_p.S1235S|PPIP5K1_ENST00000360301.4_Silent_p.S1214S|PPIP5K1_ENST00000348806.6_Silent_p.S1212S|PPIP5K1_ENST00000381879.4_Silent_p.S1215S	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1239					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GCACCTGTGGGGACTGATTTG	0.562													False	0	True	15:43827457	0	A	43827457	G	A	43827457	2	1	102	1	0	0	0	0	0	0	0	1	12406	1219	43	2		2	PPIP5K1	15	43827457	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		43827457	58703935	92	30096											
TLN2	83660	broad.mit.edu	37	chr15	63032911	63032911	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgctgttagctgccaagtCtctctctgtagatccaggag	11	11	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:63032911C>T	ENST00000561311.1	+	31	4198	c.3968C>T	c.(3967-3969)tCt>tTt	p.S1323F	TLN2_ENST00000306829.6_Missense_Mutation_p.S1323F			Q9Y4G6	TLN2_HUMAN	talin 2	1323					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.S1323Y(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTGCCAAGTCTCTCTCTGTA	0.493													False	0	True	15:63032911	0	T	63032911	C	T	63032911	3	4	102	1	0	0	0	0	1	0	0	0	16030	913	32	2	4082	2	TLN2	15	63032911	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	19205454	63032911	39498481	93	30097											
CLDN9	9080	broad.mit.edu	37	chr16	3063749	3063749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatcctcctcctcgccgGcatcctggtgctcatccctg	9	18	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:3063749G>A	ENST00000445369.2	+	1	1293	c.386G>A	c.(385-387)gGc>gAc	p.G129D		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	129					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CTCCTCGCCGGCATCCTGGTG	0.662													False	0	False	16:3063749	0	A	3063749	G	A	3063749	3	1	102	1	0	0	0	0	1	0	0	0	3515	1203	42	2	388	2	CLDN9	16	3063749	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		3063749	87291004	94	30098											
NMRAL1	57407	broad.mit.edu	37	chr16	4516232	4516232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaaatagcagggcagccGcacactggtcatgggaacgc	12	12	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:4516232G>A	ENST00000574733.1	-	4	1180	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	151						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAGGGCAGCCGCACACTGGTC	0.572													False	0	False	16:4516232	0	A	4516232	G	A	4516232	3	1	102	1	0	0	0	0	1	0	0	0	10569	1086	38	1	460	1	NMRAL1	16	4516232	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	1452483	4516232	85838521	95	30099											
ERCC4	2072	broad.mit.edu	37	chr16	14014215	14014215	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgctggtgctcaacacgCagccggccgaggaggtgcgg	18	11	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:14014215C>T	ENST00000311895.7	+	1	202	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ERCC4_ENST00000575156.1_Nonsense_Mutation_p.Q65*	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	65					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCTCAACACGCAGCCGGCCGA	0.697			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	16:14014215	0	T	14014215	C	T	14014215	4	4	102	1	0	0	0	0	0	1	0	0	5247	711	25	2	195	2	ERCC4	16	14014215	Nonsense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	9497983	14014215	76340538	96	30100											
IL21R	50615	broad.mit.edu	37	chr16	27448836	27448836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtatgaagagctgaaggaCgaggccacctcctgcagcct	12	12	0	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:27448836C>T	ENST00000337929.3	+	4	653	c.180C>T	c.(178-180)gaC>gaT	p.D60D	IL21R_ENST00000395755.1_Silent_p.D60D|IL21R_ENST00000564089.1_Silent_p.D60D|IL21R_ENST00000395754.4_Silent_p.D60D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	60					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCTGAAGGACGAGGCCACCT	0.597			T	BCL6	NHL								False	0	False	16:27448836	0	T	27448836	C	T	27448836	2	4	102	1	0	0	0	0	0	0	0	1	7721	535	19	1		1	IL21R	16	27448836	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	13434621	27448836	62905917	97	30101											
RRAD	6236	broad.mit.edu	37	chr16	66956197	66956197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgcctggacattgtggtGcaatgccgctgatgtctcaa	12	11	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:66956197G>A	ENST00000299759.6	-	5	959	c.709C>T	c.(709-711)Cac>Tac	p.H237Y	RRAD_ENST00000420652.1_Missense_Mutation_p.H237Y			P55042	RAD_HUMAN	Ras-related associated with diabetes	237					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ACATTGTGGTGCAATGCCGCT	0.602													False	0	False	16:66956197	0	A	66956197	G	A	66956197	3	1	102	1	0	0	0	0	1	0	0	0	13750	1319	46	2	221	2	RRAD	16	66956197	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	39507361	66956197	23398556	98	30102											
GEMIN4	50628	broad.mit.edu	37	chr17	650531	650531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggtcgtcctctgtcagcGcaaacacagtcagcatgtca	12	12	4	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:650531G>A	ENST00000576778.1	-	1	2060	c.719C>T	c.(718-720)gCg>gTg	p.A240V	GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	251					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607													False	0	False	17:650531	0	A	650531	G	A	650531	3	1	102	1	0	0	0	0	1	0	0	0	6375	1087	38	1	2428	1	GEMIN4	17	650531	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		650531	80544679	99	30103											
TP53	7157	broad.mit.edu	37	chr17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttcatgccgcccatgcagGaactgttacacatgtagttg	11	10	1	0	rs28934573		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:7577559G>A	ENST00000420246.2	-	7	854	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572		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)			False	0	False	17:7577559	0	A	7577559	G	A	7577559	3	1	102	1	0	0	0	0	1	0	0	0	16464	1174	41	2	568	2	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	6927028	7577559	73617651	100	30104											
MYO15A	51168	broad.mit.edu	37	chr17	18023559	18023559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagttccgcctcttcccgcGaccccaggtgaagctgtttg	10	15	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:18023559G>A	ENST00000205890.5	+	2	1783	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	482	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCTTCCCGCGACCCCAGGTG	0.632													False	0	False	17:18023559	0	A	18023559	G	A	18023559	3	1	102	1	0	0	0	0	1	0	0	0	10130	1058	37	1	1447	1	MYO15A	17	18023559	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	10446000	18023559	63171651	101	30105											
ATP6V0A1	535	broad.mit.edu	37	chr17	40666417	40666417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctttgccaccctgaccGtggccatcctcctgatcatg	8	17	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:40666417G>A	ENST00000343619.4	+	21	2482	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.V781M|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.V787M|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.V788M|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.V433M|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.V738M|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.V744M	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	787					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CACCCTGACCGTGGCCATCCT	0.617													False	0	False	17:40666417	0	A	40666417	G	A	40666417	3	1	102	1	0	0	0	0	1	0	0	0	1172	1145	40	1	2458	1	ATP6V0A1	17	40666417	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	22642858	40666417	40528793	102	30106											
SCN4A	6329	broad.mit.edu	37	chr17	62018160	62018160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactccttgacacctgggcGcacagtctgccctgggggag	14	13	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:62018160G>A	ENST00000578147.1	-	24	5558	c.5482C>T	c.(5482-5484)Cgc>Tgc	p.R1828C	SCN4A_ENST00000435607.1_Missense_Mutation_p.R1828C			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1828					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ACACCTGGGCGCACAGTCTGC	0.677													False	0	False	17:62018160	0	A	62018160	G	A	62018160	3	1	102	1	0	0	0	0	1	0	0	0	14001	1087	38	1	32	1	SCN4A	17	62018160	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	21351743	62018160	19177050	103	30107											
ABCA10	10349	broad.mit.edu	37	chr17	67211983	67211983	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attccagcagtgaaggcaaaAgggctaagaagacttaatac	10	7	0	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:67211983A>G	ENST00000269081.4	-	9	1740	c.831T>C	c.(829-831)ccT>ccC	p.P277P	ABCA10_ENST00000416101.2_Silent_p.P277P|ABCA10_ENST00000432313.2_Silent_p.P277P	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	277					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGAAGGCAAAAGGGCTAAGAA	0.353													False	0	True	17:67211983	0	G	67211983	A	G	67211983	2	3	102	1	0	0	0	0	0	0	0	1	29	59	3	4		4	ABCA10	17	67211983	Silent	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	5193823	67211983	13983227	104	30108											
SMAD4	4089	broad.mit.edu	37	chr18	48604761	48604764	+	Frame_Shift_Del	DEL	ACTT	ACTT	-													accttgctggattgaaattcActtacaccgggccctccagc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	ACTT	ACTT	-	-	ACTT	ACTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:48604761_48604764delACTT	ENST00000588745.1	+	8	1295_1298	c.1295_1298delACTT	c.(1294-1299)cacttafs	p.HL432fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.HL528fs|SMAD4_ENST00000342988.3_Frame_Shift_Del_p.HL528fs|SMAD4_ENST00000586253.1_3'UTR			Q13485	SMAD4_HUMAN	SMAD family member 4	528	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.L529fs*7(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATTGAAATTCACTTACACCGGGCC	0.495													False	1	False	18:48604761	0	-	48604764	ACTT	-	48604761	7	5	102	1	0	1	0	1	0	0	0	0	14840	159	6	0	1625	0	SMAD4	18	48604761	Frame_Shift_Del	DEL	ACTT	TCGA-IB-A5SP-01A-11D-A32N-08		48604761	29472487	105	30109											
ONECUT2	9480	broad.mit.edu	37	chr18	55103544	55103544	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggcagcttcaccctcatgcGcgacgagcgcgggctcccgg	14	17	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:55103544G>C	ENST00000491143.2	+	1	628	c.596G>C	c.(595-597)cGc>cCc	p.R199P		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	199					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ACCCTCATGCGCGACGAGCGC	0.677													False	0	False	18:55103544	0	C	55103544	G	C	55103544	3	2	102	1	0	0	0	0	1	0	0	0	10937	1087	38	5	598	5	ONECUT2	18	55103544	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	6498783	55103544	22973704	106	30110											
PTBP1	5725	broad.mit.edu	37	chr19	804908	804908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccctgctgcagtatgCggaccccgtgagcgcccagc	13	17	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:804908C>T	ENST00000356948.6	+	7	1109	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PTBP1_ENST00000349038.4_Missense_Mutation_p.A229V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V|PTBP1_ENST00000350092.4_Intron	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	229	RRM 2.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCAGTATGCGGACCCCGTG	0.662													False	0	False	19:804908	0	T	804908	C	T	804908	3	4	102	1	0	0	0	0	1	0	0	0	12801	768	27	1	712	1	PTBP1	19	804908	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		804908	58324075	107	30111											
MKNK2	2872	broad.mit.edu	37	chr19	2041073	2041073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgcaggacttgggcgGcactcagcctctgcttggcg	16	12	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:2041073G>A	ENST00000250896.3	-	12	1320	c.1076C>T	c.(1075-1077)gCc>gTc	p.A359V	MKNK2_ENST00000591588.1_Missense_Mutation_p.A103V|MKNK2_ENST00000541165.1_Missense_Mutation_p.A228V|MKNK2_ENST00000591601.1_Missense_Mutation_p.A359V|MKNK2_ENST00000591142.1_Missense_Mutation_p.A103V|MKNK2_ENST00000309340.7_Missense_Mutation_p.A359V|MKNK2_ENST00000588014.1_Missense_Mutation_p.A103V	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	359	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	p.A359V(2)		breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTTGGGCGGCACTCAGCCT	0.662													False	0	False	19:2041073	0	A	2041073	G	A	2041073	3	1	102	1	0	0	0	0	1	0	0	0	9672	1203	42	2	428	2	MKNK2	19	2041073	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	1236165	2041073	57087910	108	30112											
MUC16	94025	broad.mit.edu	37	chr19	9057140	9057140	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcccacattggtcactgcCatgcttgaagaaggatgaat	10	9	1	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9057140C>A	ENST00000397910.4	-	3	30509	c.30306G>T	c.(30304-30306)atG>atT	p.M10102I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10104	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCACTGCCATGCTTGAAG	0.468													False	0	False	19:9057140	0	A	9057140	C	A	9057140	3	1	102	1	0	0	0	0	1	0	0	0	10040	594	21	3	13545	3	MUC16	19	9057140	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	7016067	9057140	50071843	109	30113											
MUC16	94025	broad.mit.edu	37	chr19	9089947	9089947	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctggtgagtaggtgggttGtgccctggcttcccctggtg	16	10	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9089947G>T	ENST00000397910.4	-	1	2071	c.1868C>A	c.(1867-1869)aCa>aAa	p.T623K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	623	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGTGGGTTGTGCCCTGGCT	0.577													False	0	False	19:9089947	0	T	9089947	G	T	9089947	3	4	102	1	0	0	0	0	1	0	0	0	10040	1377	48	3	41991	3	MUC16	19	9089947	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	32807	9089947	50039036	110	30114											
ZNF441	126068	broad.mit.edu	37	chr19	11891903	11891903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagccatataaatgtAaacaatgtggaaaagccttc	9	6	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:11891903A>G	ENST00000357901.4	+	4	1366	c.1264A>G	c.(1264-1266)Aaa>Gaa	p.K422E	ZNF441_ENST00000454339.2_Missense_Mutation_p.K355E	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATAAATGTAAACAATGTGG	0.368													False	0	True	19:11891903	0	G	11891903	A	G	11891903	3	3	102	1	0	0	0	0	1	0	0	0	17997	363	13	4	1278	4	ZNF441	19	11891903	Missense_Mutation	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	2801956	11891903	47237080	111	30115											
BRD4	23476	broad.mit.edu	37	chr19	15350213	15350213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcccaacctttttgggcGcaactggagtcttcggctcc	9	15	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:15350213G>A	ENST00000263377.2	-	17	3787	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1189					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTTTTTGGGCGCAACTGGAGT	0.627			T	C15orf55	lethal midline carcinoma of young people								False	0	False	19:15350213	0	A	15350213	G	A	15350213	3	1	102	1	0	0	0	0	1	0	0	0	1511	1087	38	1	538	1	BRD4	19	15350213	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	3458310	15350213	43778770	112	30116											
HIPK4	147746	broad.mit.edu	37	chr19	40886552	40886552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccatcatgtcggagaccGcattggtgcaggtctcaccc	12	13	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:40886552G>A	ENST00000291823.2	-	3	1630	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	449						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTCGGAGACCGCATTGGTGCA	0.632													False	0	False	19:40886552	0	A	40886552	G	A	40886552	3	1	102	1	0	0	0	0	1	0	0	0	7166	1087	38	1	512	1	HIPK4	19	40886552	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	25536339	40886552	18242431	113	30117											
PSG5	5673	broad.mit.edu	37	chr19	43679528	43679528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccaaaaatactctgccGgtgggttagattccgcgaag	11	9	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:43679528G>A	ENST00000404580.1	-	4	891	c.803C>T	c.(802-804)cCg>cTg	p.P268L	PSG5_ENST00000366175.3_Missense_Mutation_p.P268L|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.P361L|PSG5_ENST00000342951.6_Missense_Mutation_p.P268L|PSG5_ENST00000407356.1_Missense_Mutation_p.P268L			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	268	Ig-like C2-type 2.				female pregnancy	extracellular region		p.P268L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATACTCTGCCGGTGGGTTAGA	0.463													False	0	False	19:43679528	0	A	43679528	G	A	43679528	3	1	102	1	0	0	0	0	1	0	0	0	12734	1116	39	1	212	1	PSG5	19	43679528	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	2792976	43679528	15449455	114	30118											
SHANK1	50944	broad.mit.edu	37	chr19	51219616	51219616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagttggcatcgcggccGgaggtggccggttggaacag	19	8	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:51219616G>A	ENST00000293441.1	-	2	393	c.375C>T	c.(373-375)tcC>tcT	p.S125S	SHANK1_ENST00000359082.3_Silent_p.S125S|SHANK1_ENST00000391814.1_Silent_p.S125S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	125					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CATCGCGGCCGGAGGTGGCCG	0.637													False	0	False	19:51219616	0	A	51219616	G	A	51219616	2	1	102	1	0	0	0	0	0	0	0	1	14345	1103	39	1		1	SHANK1	19	51219616	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	7540088	51219616	7909367	115	30119											
NINL	22981	broad.mit.edu	37	chr20	25462667	25462667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccatgaggggctgtgccGgttcttgggcagccgcgccc	16	14	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:25462667G>A	ENST00000278886.6	-	14	1820	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	NINL_ENST00000422516.1_Missense_Mutation_p.R583W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	583					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGGCTGTGCCGGTTCTTGGGC	0.692													False	0	False	20:25462667	0	A	25462667	G	A	25462667	3	1	102	1	0	0	0	0	1	0	0	0	10488	1115	39	1	2445	1	NINL	20	25462667	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		25462667	37562853	116	30120											
TOX2	84969	broad.mit.edu	37	chr20	42694515	42694515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccctgccagcctcgcccGgacgctgggctccaagtctc	10	20	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:42694515G>A	ENST00000358131.5	+	6	1278	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	TOX2_ENST00000341197.4_Missense_Mutation_p.R375Q|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000423191.2_Missense_Mutation_p.R333Q|TOX2_ENST00000372999.1_Missense_Mutation_p.R333Q	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCCTCGCCCGGACGCTGGGC	0.706													False	0	True	20:42694515	0	A	42694515	G	A	42694515	3	1	102	1	0	0	0	0	1	0	0	0	16461	1116	39	1	1280	1	TOX2	20	42694515	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	17231848	42694515	20331005	117	30121											
STAU1	6780	broad.mit.edu	37	chr20	47741012	47741012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaagaacagctatggcgGcatttttctttgaaatcttc	7	10	3	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:47741012G>A	ENST00000371828.3	-	7	984	c.497C>T	c.(496-498)gCc>gTc	p.A166V	STAU1_ENST00000371792.1_Missense_Mutation_p.A160V|STAU1_ENST00000371802.1_Missense_Mutation_p.A166V|STAU1_ENST00000371856.2_Missense_Mutation_p.A241V|STAU1_ENST00000360426.4_Missense_Mutation_p.A160V|STAU1_ENST00000347458.5_Missense_Mutation_p.A160V|STAU1_ENST00000340954.7_Missense_Mutation_p.A160V	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	241						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGCTATGGCGGCATTTTTCTT	0.468													False	0	False	20:47741012	0	A	47741012	G	A	47741012	3	1	102	1	0	0	0	0	1	0	0	0	15354	1203	42	2	1043	2	STAU1	20	47741012	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	5046497	47741012	15284508	118	30122											
TSHZ2	128553	broad.mit.edu	37	chr20	51871857	51871857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggaaagaaagtccccaCgaagaggcctcatctttcag	11	10	3	2	rs143642849		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:51871857C>T	ENST00000371497.5	+	2	2747	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	TSHZ2_ENST00000329613.6_Silent_p.H617H|TSHZ2_ENST00000603338.2_Silent_p.H617H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	620					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGTCCCCACGAAGAGGCCT	0.517													False	0	False	20:51871857	0	T	51871857	C	T	51871857	2	4	102	1	0	0	0	0	0	0	0	1	16707	535	19	1		1	TSHZ2	20	51871857	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	4130845	51871857	11153663	119	30123											
TAF4	6874	broad.mit.edu	37	chr20	60551330	60551330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcgtgattctttgtcgcGtgaactgtctgggggttccg	14	11	2	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:60551330G>A	ENST00000252996.4	-	15	3151	c.3152C>T	c.(3151-3153)aCg>aTg	p.T1051M		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCTTTGTCGCGTGAACTGTCT	0.537													False	0	False	20:60551330	0	A	60551330	G	A	60551330	3	1	102	1	0	0	0	0	1	0	0	0	15608	1145	40	1	109	1	TAF4	20	60551330	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	8679473	60551330	2474190	120	30124											
COL20A1	57642	broad.mit.edu	37	chr20	61929336	61929336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagagtcggaggggagcGgcctcggctacctggtgcag	20	9	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:61929336G>A	ENST00000422202.1	+	2	225	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	COL20A1_ENST00000435874.1_Missense_Mutation_p.G53S|COL20A1_ENST00000326996.6_Missense_Mutation_p.G53S|COL20A1_ENST00000358894.6_Missense_Mutation_p.G53S			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	53	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGAGGGGAGCGGCCTCGGCTA	0.632													False	0	False	20:61929336	0	A	61929336	G	A	61929336	3	1	102	1	0	0	0	0	1	0	0	0	3702	1116	39	1	163	1	COL20A1	20	61929336	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	1378006	61929336	1096184	121	30125											
TPTE	7179	broad.mit.edu	37	chr21	10969096	10969096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcactgataggtgacaccCgggctgctcctttaaattca	8	11	2	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:10969096C>T	ENST00000361285.4	-	7	481	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	51					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGTGACACCCGGGCTGCTCC	0.453													False	0	True	21:10969096	0	T	10969096	C	T	10969096	3	4	102	1	0	0	0	0	1	0	0	0	16513	652	23	1	1575	1	TPTE	21	10969096	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		10969096	37160799	122	30126											
GRIK1	2897	broad.mit.edu	37	chr21	30909555	30909555	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcgtttccttggatcacGccacagtctcttttctctga	8	13	3	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:30909555G>T	ENST00000399914.1	-	17	3322	c.2801C>A	c.(2800-2802)gCg>gAg	p.A934E	GRIK1_ENST00000327783.4_Missense_Mutation_p.A949E|GRIK1_ENST00000389125.3_Missense_Mutation_p.A905E|GRIK1_ENST00000399913.1_Missense_Mutation_p.A920E|GRIK1_ENST00000535441.1_Missense_Mutation_p.A922E			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTTGGATCACGCCACAGTCTC	0.393													False	0	False	21:30909555	0	T	30909555	G	T	30909555	3	4	102	1	0	0	0	0	1	0	0	0	6820	1087	38	3	7	3	GRIK1	21	30909555	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	19940459	30909555	17220340	123	30127											
DYRK1A	1859	broad.mit.edu	37	chr21	38877757	38877757	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaactcgaattcaacctTattatgctctgcagcacagt	5	12	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:38877757T>A	ENST00000339659.4	+	9	2854	c.1384T>A	c.(1384-1386)Tat>Aat	p.Y462N	DYRK1A_ENST00000338785.3_Missense_Mutation_p.Y471N|DYRK1A_ENST00000398960.2_Missense_Mutation_p.Y471N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.Y471N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.Y471N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Y243N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.Y471N	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A		Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AATTCAACCTTATTATGCTCT	0.438													False	0	False	21:38877757	0	A	38877757	T	A	38877757	3	1	102	1	0	0	0	0	1	0	0	0	4884	1754	61	5	1445	5	DYRK1A	21	38877757	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	7968202	38877757	9252138	124	30128											
SLC19A1	6573	broad.mit.edu	37	chr21	46951654	46951654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgcttcaggaagagggCgaggaccacgctgaaggtga	19	8	1	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:46951654C>T	ENST00000311124.4	-	3	750	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	SLC19A1_ENST00000380010.4_Missense_Mutation_p.A200T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A200T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A160T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	200					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		AGGAAGAGGGCGAGGACCACG	0.647													False	0	True	21:46951654	0	T	46951654	C	T	46951654	3	4	102	1	0	0	0	0	1	0	0	0	14509	768	27	1	1193	1	SLC19A1	21	46951654	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	8073897	46951654	1178241	125	30129											
HIRA	7290	broad.mit.edu	37	chr22	19365576	19365576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggatgctgttaaagaatgCcgtggagaagtccctgtcat	14	7	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:19365576C>T	ENST00000263208.5	-	14	1685	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	HIRA_ENST00000546308.1_Missense_Mutation_p.A433T|HIRA_ENST00000340170.4_Missense_Mutation_p.A477T|HIRA_ENST00000541063.1_Missense_Mutation_p.A433T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	477	Interaction with ASF1A.|Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTAAAGAATGCCGTGGAGAAG	0.488													False	0	False	22:19365576	0	T	19365576	C	T	19365576	3	4	102	1	0	0	0	0	1	0	0	0	7167	739	26	2	1672	2	HIRA	22	19365576	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		19365576	31938990	126	30130											
MED15	51586	broad.mit.edu	37	chr22	20929453	20929453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacataagagcccggttcccGcctaccaccgctgtgtccgc	9	18	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:20929453G>A	ENST00000263205.7	+	9	1275	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	MED15_ENST00000406969.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000292733.7_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	402	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCCGGTTCCCGCCTACCACCG	0.597													False	0	True	22:20929453	0	A	20929453	G	A	20929453	2	1	102	1	0	0	0	0	0	0	0	1	9500	1074	38	1		1	MED15	22	20929453	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	1563877	20929453	30375113	127	30131											
WWC3	55841	broad.mit.edu	37	chrX	10090747	10090747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggattattcgctagccagCgacagtggggtgtttgaacc	13	9	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:10090747C>T	ENST00000380861.4	+	12	2110	c.1719C>T	c.(1717-1719)agC>agT	p.S573S	WWC3_ENST00000454666.1_Silent_p.S573S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	573										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGCTAGCCAGCGACAGTGGGG	0.498													False	0	False	X:10090747	0	T	10090747	C	T	10090747	2	4	102	1	0	0	0	0	0	0	0	1	17497	767	27	1		1	WWC3	23	10090747	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		10090747	145179813	128	30132											
PTCHD1	139411	broad.mit.edu	37	chrX	23410819	23410819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggccagccctttcacgaAcattgaggcagccaggattt	12	11	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:23410819A>G	ENST00000379361.4	+	3	2044	c.1184A>G	c.(1183-1185)aAc>aGc	p.N395S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	395	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CCTTTCACGAACATTGAGGCA	0.483													False	0	False	X:23410819	0	G	23410819	A	G	23410819	3	3	102	1	0	0	0	0	1	0	0	0	12808	43	2	4	1194	4	PTCHD1	23	23410819	Missense_Mutation	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	13320072	23410819	131859741	129	30133											
FAM47A	158724	broad.mit.edu	37	chrX	34150174	34150174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttggggagtaaaaactcGtcacggcgacaaacgagagt	12	7	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:34150174G>A	ENST00000346193.3	-	1	273	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	74								p.D74D(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAAAAACTCGTCACGGCGAC	0.532													False	0	False	X:34150174	0	A	34150174	G	A	34150174	2	1	102	1	0	0	0	0	0	0	0	1	5609	1136	40	1		1	FAM47A	23	34150174	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	10739355	34150174	121120386	130	30134											
ZMAT1	84460	broad.mit.edu	37	chrX	101138639	101138639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagctttcctgaactgaccTtgactctatcctcctctctt	4	14	2	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:101138639T>C	ENST00000372782.3	-	7	1807	c.1760A>G	c.(1759-1761)aAg>aGg	p.K587R	ZMAT1_ENST00000458570.1_Missense_Mutation_p.K416R|ZMAT1_ENST00000540921.1_Missense_Mutation_p.K587R|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	416						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGAACTGACCTTGACTCTATC	0.378													False	0	False	X:101138639	0	C	101138639	T	C	101138639	3	2	102	1	0	0	0	0	1	0	0	0	17774	1609	56	4	160	4	ZMAT1	23	101138639	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	66988465	101138639	54131921	131	30135											
AFF2	2334	broad.mit.edu	37	chrX	147744171	147744171	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaccaacactgaaaccttCaattgaatttgagaacagct	5	11	2	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:147744171C>A	ENST00000370460.2	+	3	1402	c.923C>A	c.(922-924)tCa>tAa	p.S308*	AFF2_ENST00000342251.3_Nonsense_Mutation_p.S304*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.S304*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.S304*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	308					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAAACCTTCAATTGAATTT	0.478													False	0	False	X:147744171	0	A	147744171	C	A	147744171	4	1	102	1	0	0	0	0	0	1	0	0	357	838	29	3	933	3	AFF2	23	147744171	Nonsense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	46605532	147744171	7526389	132	30136											
RPL22	6146	broad.mit.edu	37	chr1	6257817	6257818	+	Splice_Site	INS	-	-	ACAGGAGCCA													ccttcaccacaagctttttcINStaagaaaatacacaaatgat							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:6257817_6257818insACAGGAGCCA	ENST00000234875.4	-	2	51		c.e2-1		RPL22_ENST00000497965.1_Splice_Site|RPL22_ENST00000484532.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAAGCTTTTTCTAAGAAAATAC	0.386			T	RUNX1	"AML, CML"								False	0	False	1:6257817	0	ACAGGAGCCA	6257818	-	ACAGGAGCCA	6257817	8	5	103	1	0	1	1	0	0	0	1	0	13647	927	32	0	386	0	RPL22	1	6257817	Splice_Site	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08		6257817	242992804	1	30137	365	2									
RPL22	6146	broad.mit.edu	37	chr1	6257818	6257819	+	Splice_Site	INS	-	-	GGCGGCAGCGGAGTTAGA													cttcaccacaagctttttctINSaagaaaatacacaaatgata							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:6257818_6257819insGGCGGCAGCGGAGTTAGA	ENST00000234875.4	-	2	51		c.e2-2		RPL22_ENST00000497965.1_Splice_Site	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AAGCTTTTTCTAAGAAAATACA	0.386			T	RUNX1	"AML, CML"								False	0	False	1:6257818	0	GGCGGCAGCGGAGTTAGA	6257819	-	GGCGGCAGCGGAGTTAGA	6257818	8	5	103	1	0	1	1	0	0	0	1	0	13647	1536	53	0	387	0	RPL22	1	6257818	Splice_Site	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	1	6257818	242992803	2	30138	365	2									
MACF1	23499	broad.mit.edu	37	chr1	39833893	39833893	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctggtcactgaactgagctCttgtggctttgcgctggact	12	11	2	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:39833893C>T	ENST00000564288.1	+	50	13622	c.12845C>T	c.(12844-12846)tCt>tTt	p.S4282F	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.S2220F|MACF1_ENST00000317713.7_Missense_Mutation_p.S2220F|MACF1_ENST00000545844.1_Missense_Mutation_p.S2220F|MACF1_ENST00000539005.1_Missense_Mutation_p.S2220F|MACF1_ENST00000567887.1_Missense_Mutation_p.S4319F|MACF1_ENST00000289893.4_Missense_Mutation_p.S2722F|MACF1_ENST00000372915.3_Missense_Mutation_p.S4287F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4287					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACTGAGCTCTTGTGGCTTT	0.448													False	0	False	1:39833893	0	T	39833893	C	T	39833893	3	4	103	1	0	0	0	0	1	0	0	0	9207	913	32	2	12988	2	MACF1	1	39833893	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	33576075	39833893	209416728	3	30139											
NBPF10	100132406	broad.mit.edu	37	chr1	145325997	145325997	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagggcctgaagtcttgcaAgactcactggatagatgtta	11	7	2	3			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:145325997A>G	ENST00000342960.5	+	30	3905	c.3870A>G	c.(3868-3870)caA>caG	p.Q1290Q	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1290										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGTCTTGCAAGACTCACTGG	0.468													False	0	False	1:145325997	0	G	145325997	A	G	145325997	2	3	103	1	0	0	0	0	0	0	0	1	10260	69	3	4		4	NBPF10	1	145325997	Silent	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08	105492104	145325997	103924624	4	30140											
DCST1	149095	broad.mit.edu	37	chr1	155014235	155014235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgtcgttggtttgaccGcaagcatgaacagtgcatga	12	10	0	3			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:155014235G>A	ENST00000295542.1	+	8	890	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DCST1_ENST00000392480.1_Missense_Mutation_p.R265H|DCST1_ENST00000368419.2_Missense_Mutation_p.R265H|DCST1_ENST00000423025.2_Missense_Mutation_p.R240H	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	265						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTTTGACCGCAAGCATGAA	0.537													False	0	False	1:155014235	0	A	155014235	G	A	155014235	3	1	103	1	0	0	0	0	1	0	0	0	4327	1087	38	1	820	1	DCST1	1	155014235	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	9688238	155014235	94236386	5	30141											
LAMB3	3914	broad.mit.edu	37	chr1	209800758	209800758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggctgagggagttgtgCgggtcgcaggcacacggttc	19	8	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:209800758C>T	ENST00000391911.1	-	11	1844	c.1455G>A	c.(1453-1455)ccG>ccA	p.P485P	LAMB3_ENST00000356082.4_Silent_p.P485P|LAMB3_ENST00000367030.3_Silent_p.P485P	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	485	Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGAGTTGTGCGGGTCGCAGG	0.647											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:209800758	0	T	209800758	C	T	209800758	2	4	103	1	0	0	0	0	0	0	0	1	8663	755	27	1		1	LAMB3	1	209800758	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	54786523	209800758	39449863	6	30142											
WNT3A	89780	broad.mit.edu	37	chr1	228210456	228210456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggtccccaagcagctcCgcttctgcaggaactacgtg	11	15	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:228210456C>T	ENST00000284523.1	+	2	238	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	WNT3A_ENST00000366753.2_Missense_Mutation_p.R54C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	54					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CAAGCAGCTCCGCTTCTGCAG	0.652													False	0	False	1:228210456	0	T	228210456	C	T	228210456	3	4	103	1	0	0	0	0	1	0	0	0	17473	652	23	1	166	1	WNT3A	1	228210456	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	18409698	228210456	21040165	7	30143											
SF3B14	0	broad.mit.edu	37	chr2	24297040	24297040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcttatatacaatatccGatttacttcaggtggaagtc	6	7	2	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:24297040G>A	ENST00000233468.4	-	2	268	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN		19	RRM.				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACAATATCCGATTTACTTCA	0.294													False	0	False	2:24297040	0	A	24297040	G	A	24297040	3	1	103	1	0	0	0	0	1	0	0	0	14231	1057	37	1	334	1	SF3B14	2	24297040	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		24297040	218902333	8	30144											
ANTXR1	84168	broad.mit.edu	37	chr2	69409729	69409729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatatgaattccctgagccGcgaaatctcaacaacaatat	6	10	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:69409729G>A	ENST00000303714.4	+	16	1612	c.1290G>A	c.(1288-1290)ccG>ccA	p.P430P		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	430					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCCCTGAGCCGCGAAATCTCA	0.473									Familial Infantile Hemangioma				False	0	False	2:69409729	0	A	69409729	G	A	69409729	2	1	103	1	0	0	0	0	0	0	0	1	711	1074	38	1		1	ANTXR1	2	69409729	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	45112689	69409729	173789644	9	30145											
AAK1	22848	broad.mit.edu	37	chr2	69741760	69741765	+	In_Frame_Del	DEL	TGTTGC	TGTTGC	-													gctgttgctgttgctgttgtTgttgctgctgctgctgctgc					rs77547121		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	TGTTGC	TGTTGC	-	-	TGTTGC	TGTTGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:69741760_69741765delTGTTGC	ENST00000409085.4	-	13	1990_1995	c.1614_1619delGCAACA	c.(1612-1620)cagcaacaa>caa	p.538_540QQQ>Q	AAK1_ENST00000409068.1_In_Frame_Del_p.538_540QQQ>Q|AAK1_ENST00000406297.3_In_Frame_Del_p.538_540QQQ>Q	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	538	Gln-rich.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.Q538Q(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ttgctgttgttgttgctgctgctgct	0.544													False	1	True	2:69741760	0	-	69741765	TGTTGC	-	69741760	7	5	103	1	0	1	0	1	0	0	0	0	16	1812	63	0	1306	0	AAK1	2	69741760	In_Frame_Del	DEL	TGTTGC	TCGA-IB-A5SQ-01A-11D-A32N-08	332031	69741760	173457613	10	30146											
TET3	200424	broad.mit.edu	37	chr2	74317154	74317154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcgcaagttccgcctcGcaggggacaatcccaaagag	10	15	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:74317154G>A	ENST00000409262.3	+	5	2614	c.2614G>A	c.(2614-2616)Gca>Aca	p.A872T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	872							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTCCGCCTCGCAGGGGACAA	0.592													False	0	False	2:74317154	0	A	74317154	G	A	74317154	3	1	103	1	0	0	0	0	1	0	0	0	15853	1087	38	1	2632	1	TET3	2	74317154	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	4575394	74317154	168882219	11	30147											
MRPS5	64969	broad.mit.edu	37	chr2	95767442	95767442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcctgaaagcatccatccGatcagtagctttcccaatag	6	12	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:95767442G>A	ENST00000272418.2	-	8	998	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	264	S5 DRBM.				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCATCCATCCGATCAGTAGCT	0.338													False	0	True	2:95767442	0	A	95767442	G	A	95767442	3	1	103	1	0	0	0	0	1	0	0	0	9913	1057	37	1	522	1	MRPS5	2	95767442	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	21450288	95767442	147431931	12	30148											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	103	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-IB-A5SQ-01A-11D-A32N-08	2079923	97847365	145352008	13	30149											
GLI2	2736	broad.mit.edu	37	chr2	121736059	121736059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaggagtttgtgtgccGctggcaggcctgcacgcggg	18	9	0	1	rs150170739		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:121736059G>A	ENST00000452319.1	+	10	1478	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	GLI2_ENST00000361492.4_Missense_Mutation_p.R473H|GLI2_ENST00000314490.11_Missense_Mutation_p.R145H|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	473					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTTGTGTGCCGCTGGCAGGCC	0.632													False	0	False	2:121736059	0	A	121736059	G	A	121736059	3	1	103	1	0	0	0	0	1	0	0	0	6483	1087	38	1	1452	1	GLI2	2	121736059	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	23888694	121736059	121463314	14	30150											
TTN	7273	broad.mit.edu	37	chr2	179430536	179430536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggttcagcagctttcaCggcatcaacagtttccactg	10	11	3	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:179430536C>T	ENST00000589042.1	-	326	80547	c.80323G>A	c.(80323-80325)Gtg>Atg	p.V26775M	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V17710M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17835M|TTN_ENST00000342992.6_Missense_Mutation_p.V24207M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17902M|TTN_ENST00000591111.1_Missense_Mutation_p.V25134M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25134	Ig-like 128.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGCTTTCACGGCATCAACA	0.448													False	0	False	2:179430536	0	T	179430536	C	T	179430536	3	4	103	1	0	0	0	0	1	0	0	0	16819	536	19	1	27804	1	TTN	2	179430536	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	57694477	179430536	63768837	15	30151											
KCTD18	130535	broad.mit.edu	37	chr2	201354855	201354855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttcccgttctcagtccGcactcccaaggcacgggcag	10	16	2	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:201354855G>A	ENST00000359878.3	-	7	1759	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	KCTD18_ENST00000409157.1_Missense_Mutation_p.R417W	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	417						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TTCTCAGTCCGCACTCCCAAG	0.592													False	0	False	2:201354855	0	A	201354855	G	A	201354855	3	1	103	1	0	0	0	0	1	0	0	0	8155	1086	38	1	35	1	KCTD18	2	201354855	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	21924319	201354855	41844518	16	30152											
GLB1L	79411	broad.mit.edu	37	chr2	220104663	220104663	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggccaaaatctacagtggTatagagtccccggagggagc	14	9	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:220104663T>G	ENST00000295759.7	-	7	1013	c.700A>C	c.(700-702)Acc>Ccc	p.T234P	GLB1L_ENST00000497855.1_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.T234P|GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000356283.3_Intron			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	234					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTACAGTGGTATAGAGTCCC	0.527													False	0	False	2:220104663	0	G	220104663	T	G	220104663	3	3	103	1	0	0	0	0	1	0	0	0	6473	1638	57	4	1308	4	GLB1L	2	220104663	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	18749808	220104663	23094710	17	30153											
DOCK10	55619	broad.mit.edu	37	chr2	225659771	225659771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaaaacagtccttataCgcttagtcaggtccttcacc	5	14	3	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:225659771C>T	ENST00000409592.3	-	45	5074	c.4961G>A	c.(4960-4962)cGt>cAt	p.R1654H	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1660H			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1660	DHR-2.						GTP binding	p.R1658H(1)|p.R198H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTCCTTATACGCTTAGTCAG	0.478													False	0	False	2:225659771	0	T	225659771	C	T	225659771	3	4	103	1	0	0	0	0	1	0	0	0	4715	536	19	1	1629	1	DOCK10	2	225659771	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	5555108	225659771	17539602	18	30154											
NUP210	23225	broad.mit.edu	37	chr3	13377062	13377062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtccggccttttacccgGccgagcacgttcatggcaaa	11	15	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:13377062G>A	ENST00000254508.5	-	28	3817	c.3735C>T	c.(3733-3735)ggC>ggT	p.G1245G		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1245					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTTTTACCCGGCCGAGCACGT	0.607													False	0	False	3:13377062	0	A	13377062	G	A	13377062	2	1	103	1	0	0	0	0	0	0	0	1	10828	1190	42	2		2	NUP210	3	13377062	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		13377062	184645368	19	30155											
KCNH8	131096	broad.mit.edu	37	chr3	19436644	19436644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcctcttgcgtcttttgCgtctgctgcagaagttagac	11	11	3	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:19436644C>T	ENST00000328405.2	+	7	1284	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_5'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	340						integral to membrane	two-component sensor activity	p.R340C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCGTCTTTTGCGTCTGCTGCA	0.488													False	0	False	3:19436644	0	T	19436644	C	T	19436644	3	4	103	1	0	0	0	0	1	0	0	0	8088	768	27	1	1044	1	KCNH8	3	19436644	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	6059582	19436644	178585786	20	30156											
SEC22C	9117	broad.mit.edu	37	chr3	42605157	42605158	+	Frame_Shift_Ins	INS	-	-	AT													agcagatagccatgcaggccINSacgtccccgaaagaagaaaa							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:42605157_42605158insAT	ENST00000273156.7	-	3	412_413	c.203_204insAT	c.(202-204)gtgfs	p.V68fs	SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000417572.1_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000264454.3_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000423701.2_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000536332.1_De_novo_Start_OutOfFrame	NM_004206.3|NM_032970.3	NP_004197.1|NP_116752.1	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	68	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CCATGCAGGCCACGTCCCCGAA	0.515													False	0	False	3:42605157	0	AT	42605158	-	AT	42605157	7	5	103	1	0	1	1	0	0	0	0	0	14071	581	21	0	773	0	SEC22C	3	42605157	Frame_Shift_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	23168513	42605157	155417273	21	30157	366	2									
SEC22C	9117	broad.mit.edu	37	chr3	42605159	42605160	+	Frame_Shift_Ins	INS	-	-	GCTTTTCTTGAGTTTGGTTT													cagatagccatgcaggccacINSgtccccgaaagaagaaaaac							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:42605159_42605160insGCTTTTCTTGAGTTTGGTTT	ENST00000273156.7	-	3	410_411	c.201_202insAAACCAAACTCAAGAAAAGC	c.(199-204)gacgtgfs	p.V68fs	SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000417572.1_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000264454.3_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000423701.2_Frame_Shift_Ins_p.V68fs|SEC22C_ENST00000536332.1_5'UTR	NM_004206.3|NM_032970.3	NP_004197.1|NP_116752.1	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	68	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		ATGCAGGCCACGTCCCCGAAAG	0.515													False	0	False	3:42605159	0	GCTTTTCTTGAGTTTGGTTT	42605160	-	GCTTTTCTTGAGTTTGGTTT	42605159	7	5	103	1	0	1	1	0	0	0	0	0	14071	536	19	0	775	0	SEC22C	3	42605159	Frame_Shift_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	2	42605159	155417271	22	30158	366	2									
STXBP5L	9515	broad.mit.edu	37	chr3	121097633	121097633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaacgtctttctagtgcCgatgtttcaaaagtaaatcg	9	7	3	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:121097633C>T	ENST00000273666.6	+	22	2590	c.2319C>T	c.(2317-2319)gcC>gcT	p.A773A	STXBP5L_ENST00000492541.1_Silent_p.A773A|STXBP5L_ENST00000472879.1_Silent_p.A749A|STXBP5L_ENST00000471454.1_Silent_p.A749A|STXBP5L_ENST00000497029.1_Intron	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	773					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTCTAGTGCCGATGTTTCAA	0.473													False	0	False	3:121097633	0	T	121097633	C	T	121097633	2	4	103	1	0	0	0	0	0	0	0	1	15439	639	23	1		1	STXBP5L	3	121097633	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	78492474	121097633	76924797	23	30159											
EPHB1	2047	broad.mit.edu	37	chr3	134514513	134514513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgctcctcctggcatccGcagtggctgcgatggaaggt	13	12	0	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:134514513G>A	ENST00000398015.3	+	1	410	c.40G>A	c.(40-42)Gca>Aca	p.A14T	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	14						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCTGGCATCCGCAGTGGCTGC	0.687													False	0	False	3:134514513	0	A	134514513	G	A	134514513	3	1	103	1	0	0	0	0	1	0	0	0	5206	1087	38	1	42	1	EPHB1	3	134514513	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	13416880	134514513	63507917	24	30160											
QDPR	5860	broad.mit.edu	37	chr4	17488811	17488811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggttaccacctggattagGcttcctgagctcggtcggtt	13	10	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:17488811G>A	ENST00000508623.1	-	5	517	c.485C>T	c.(484-486)gCc>gTc	p.A162V	QDPR_ENST00000281243.5_Silent_p.S226S|QDPR_ENST00000428702.2_Silent_p.S195S|QDPR_ENST00000513615.1_3'UTR			P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	0					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	CCTGGATTAGGCTTCCTGAGC	0.453													False	0	False	4:17488811	0	A	17488811	G	A	17488811	3	1	103	1	0	0	0	0	1	0	0	0	12951	1194	42	2	60	2	QDPR	4	17488811	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		17488811	173665465	25	30161											
KIAA1211	57482	broad.mit.edu	37	chr4	57180336	57180336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgaggaagagagaagacGccaagaagactactggcgag	14	8	0	5			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:57180336G>A	ENST00000504228.1	+	6	773	c.668G>A	c.(667-669)cGc>cAc	p.R223H	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R223H|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R216H			Q6ZU35	K1211_HUMAN	KIAA1211	223	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGAGAAGACGCCAAGAAGAC	0.612													False	0	False	4:57180336	0	A	57180336	G	A	57180336	3	1	103	1	0	0	0	0	1	0	0	0	8265	1087	38	1	686	1	KIAA1211	4	57180336	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	39691525	57180336	133973940	26	30162											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68995528	68995528	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaagctgaatacttacGcgtacatcatgaacccagga	9	9	1	3	rs142296401	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:68995528G>A	ENST00000356291.2	-	1	70	c.11C>T	c.(10-12)gCa>gTa	p.A4V		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	4			A -> T (in dbSNP:rs10030708).		proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAATACTTACGCGTACATCAT	0.448													False	0	False	4:68995528	0	A	68995528	G	A	68995528	5	1	103	1	0	0	0	0	0	0	1	0	16325	1101	38	1	1345	1	TMPRSS11F	4	68995528	Splice_Site	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	11815192	68995528	122158748	27	30163											
ARHGAP10	79658	broad.mit.edu	37	chr4	148944528	148944528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagagaaccaagaggcccGtggccgtctacaatctttgt	11	12	2	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:148944528G>A	ENST00000336498.3	+	19	2070	c.1831G>A	c.(1831-1833)Gtg>Atg	p.V611M	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.V260M	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	611					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CAAGAGGCCCGTGGCCGTCTA	0.502													False	0	True	4:148944528	0	A	148944528	G	A	148944528	3	1	103	1	0	0	0	0	1	0	0	0	864	1145	40	1	1905	1	ARHGAP10	4	148944528	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	79949000	148944528	42209748	28	30164											
GUCY1A3	2982	broad.mit.edu	37	chr4	156631830	156631831	+	Translation_Start_Site	INS	-	-	TCACATAATACATGTTCTGC													gcttcagtacccttctgaaaINScagagcagccattgccaaga							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:156631830_156631831insTCACATAATACATGTTCTGC	ENST00000393832.3	+	0	612_613				GUCY1A3_ENST00000513574.1_Frame_Shift_Ins_p.Q172fs|GUCY1A3_ENST00000511507.1_Frame_Shift_Ins_p.Q172fs|GUCY1A3_ENST00000511108.1_Frame_Shift_Ins_p.Q172fs|GUCY1A3_ENST00000455639.2_Frame_Shift_Ins_p.Q172fs|GUCY1A3_ENST00000296518.7_Frame_Shift_Ins_p.Q172fs|GUCY1A3_ENST00000506455.1_Frame_Shift_Ins_p.Q172fs	NM_001130685.2	NP_001124157.1	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3						blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CCCTTCTGAAACAGAGCAGCCA	0.426													False	0	True	4:156631830	0	TCACATAATACATGTTCTGC	156631831	-	TCACATAATACATGTTCTGC	156631830	6	5	103	1	0	1	1	0	0	0	0	0	6941	40	2	0		0	GUCY1A3	4	156631830	Translation_Start_Site	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	7687302	156631830	34522446	29	30165											
SPOCK1	6695	broad.mit.edu	37	chr5	136476343	136476343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacactttgtgagggctGcattttaccttcaggcaggg	11	10	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:136476343G>A	ENST00000394945.1	-	4	442	c.273C>T	c.(271-273)tgC>tgT	p.C91C	SPOCK1_ENST00000282223.7_Silent_p.C91C	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	91					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGAGGGCTGCATTTTACCT	0.567													False	0	False	5:136476343	0	A	136476343	G	A	136476343	2	1	103	1	0	0	0	0	0	0	0	1	15161	1311	46	2		2	SPOCK1	5	136476343	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		136476343	44438917	30	30166											
TMCO6	55374	broad.mit.edu	37	chr5	140023774	140023774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtatctaacgtggtgagcGtaatggtatgtattggggtt	14	4	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:140023774G>A	ENST00000394671.3	+	10	1296	c.1195G>A	c.(1195-1197)Gta>Ata	p.V399I	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.V405I|TMCO6_ENST00000537378.1_Missense_Mutation_p.V159I	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	399					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGAGCGTAATGGTATG	0.483													False	0	False	5:140023774	0	A	140023774	G	A	140023774	3	1	103	1	0	0	0	0	1	0	0	0	16082	1145	40	1	1233	1	TMCO6	5	140023774	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	3547431	140023774	40891486	31	30167											
NSD1	64324	broad.mit.edu	37	chr5	176562809	176562809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagctcctcagactgaaacAcagaaaaataagcaaagaaa	6	8	1	4			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:176562809A>G	ENST00000439151.2	+	2	750	c.705A>G	c.(703-705)acA>acG	p.T235T	NSD1_ENST00000361032.4_Silent_p.T235T|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000354179.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	235					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGACTGAAACACAGAAAAATA	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			False	0	False	5:176562809	0	G	176562809	A	G	176562809	2	3	103	1	0	0	0	0	0	0	0	1	10737	146	6	4		4	NSD1	5	176562809	Silent	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08	36539035	176562809	4352451	32	30168											
DDX41	51428	broad.mit.edu	37	chr5	176941738	176941738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctctttcacggacatgCccccaatgcagagggcgcag	11	14	3	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:176941738C>T	ENST00000507955.1	-	9	1422	c.899G>A	c.(898-900)gGc>gAc	p.G300D		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	300	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CACGGACATGCCCCCAATGCA	0.637													False	0	True	5:176941738	0	T	176941738	C	T	176941738	3	4	103	1	0	0	0	0	1	0	0	0	4386	739	26	2	1005	2	DDX41	5	176941738	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	378929	176941738	3973522	33	30169											
FLT4	2324	broad.mit.edu	37	chr5	180056983	180056983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggttggaaaggaagtcctgGtctccccaggtggtctcgca	15	10	2	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:180056983G>T	ENST00000261937.6	-	5	714	c.636C>A	c.(634-636)gaC>gaA	p.D212E	FLT4_ENST00000393347.3_Missense_Mutation_p.D212E|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.D212E	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	212	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGAAGTCCTGGTCTCCCCAGG	0.637													False	0	False	5:180056983	0	T	180056983	G	T	180056983	3	4	103	1	0	0	0	0	1	0	0	0	5984	1252	44	3	3567	3	FLT4	5	180056983	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	3115245	180056983	858277	34	30170											
OR10C1	442194	broad.mit.edu	37	chr6	29408019	29408019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattggctatacgtctgtcaCggtccccctgctacttcacc	8	15	3	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:29408019C>T	ENST00000444197.2	+	1	937	c.227C>T	c.(226-228)aCg>aTg	p.T76M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACGTCTGTCACGGTCCCCCTG	0.577													False	0	False	6:29408019	0	T	29408019	C	T	29408019	3	4	103	1	0	0	0	0	1	0	0	0	10966	536	19	1	229	1	OR10C1	6	29408019	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		29408019	141707048	35	30171											
MAS1L	116511	broad.mit.edu	37	chr6	29454889	29454889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgagatctgcaccaccGcatagaccctggtggccttt	12	14	1	2	rs145448286	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:29454889G>A	ENST00000377127.3	-	1	849	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	264						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CTGCACCACCGCATAGACCCT	0.522													False	0	False	6:29454889	0	A	29454889	G	A	29454889	3	1	103	1	0	0	0	0	1	0	0	0	9388	1087	38	1	347	1	MAS1L	6	29454889	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	46870	29454889	141660178	36	30172											
PRPH2	5961	broad.mit.edu	37	chr6	42689575	42689575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgaaaaccgttgttgccGcagcatttgaactcgatctg	9	12	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:42689575G>A	ENST00000230381.5	-	1	737	c.498C>T	c.(496-498)tgC>tgT	p.C166C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	166					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CGTTGTTGCCGCAGCATTTGA	0.507													False	0	False	6:42689575	0	A	42689575	G	A	42689575	2	1	103	1	0	0	0	0	0	0	0	1	12653	1079	38	1		1	PRPH2	6	42689575	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	13234686	42689575	128425492	37	30173											
CAPN11	11131	broad.mit.edu	37	chr6	44144381	44144381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcacaagacggaggaCggggagttctggtcagtgtg	17	8	2	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:44144381C>T	ENST00000398776.1	+	10	1103	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	CAPN11_ENST00000542245.1_Silent_p.D355D	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	355	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGACGGAGGACGGGGAGTTCT	0.627													False	0	True	6:44144381	0	T	44144381	C	T	44144381	2	4	103	1	0	0	0	0	0	0	0	1	2644	535	19	1		1	CAPN11	6	44144381	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	1454806	44144381	126970686	38	30174											
TNFRSF21	27242	broad.mit.edu	37	chr6	47253929	47253929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcacactgcttacaccGcacatcctcagtctctgtcc	6	18	2	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:47253929G>A	ENST00000296861.2	-	2	892	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	167					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGCTTACACCGCACATCCTCA	0.542													False	0	False	6:47253929	0	A	47253929	G	A	47253929	3	1	103	1	0	0	0	0	1	0	0	0	16377	1086	38	1	1488	1	TNFRSF21	6	47253929	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	3109548	47253929	123861138	39	30175											
BCLAF1	9774	broad.mit.edu	37	chr6	136589449	136589449	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgaagaggatgaagatcGagaatgatcttgctctcttt	11	6	2	6	rs147719127		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:136589449G>A	ENST00000531224.1	-	10	2500	c.2248C>T	c.(2248-2250)Cga>Tga	p.R750*	BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R750*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R577*|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R748*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	750	Poly-Ser.				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R750G(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GATGAAGATCGAGAATGATCT	0.338													False	0	False	6:136589449	0	A	136589449	G	A	136589449	4	1	103	1	0	0	0	0	0	1	0	0	1387	1066	37	1	530	1	BCLAF1	6	136589449	Nonsense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	89335520	136589449	34525618	40	30176											
CCDC28A	25901	broad.mit.edu	37	chr6	139095001	139095001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggctgtcgggtctttgCgggttgcggaagggggcccc	19	10	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:139095001C>T	ENST00000332797.6	+	1	345	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	64										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CGGGTCTTTGCGGGTTGCGGA	0.617													False	0	True	6:139095001	0	T	139095001	C	T	139095001	3	4	103	1	0	0	0	0	1	0	0	0	2823	759	27	1	192	1	CCDC28A	6	139095001	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	2505552	139095001	32020066	41	30177											
DNAH11	8701	broad.mit.edu	37	chr7	21882220	21882220	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agaactttcgccttatccttCacacaaaattggcaaatcct	4	12	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:21882220C>G	ENST00000328843.6	+	67	10802	c.10771C>G	c.(10771-10773)Cac>Gac	p.H3591D	DNAH11_ENST00000409508.3_Missense_Mutation_p.H3584D			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3591	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCTTATCCTTCACACAAAATT	0.413									Kartagener syndrome				False	0	True	7:21882220	0	G	21882220	C	G	21882220	3	3	103	1	0	0	0	0	1	0	0	0	4629	826	29	5	11034	5	DNAH11	7	21882220	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		21882220	137256443	42	30178											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	11	12	1	1	rs147859349		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													False	0	False	7:72398976	0	G	72398976	A	G	72398976	3	3	103	1	0	0	0	0	1	0	0	0	12308	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08	50516756	72398976	86739687	43	30179											
FLNC	2318	broad.mit.edu	37	chr7	128482291	128482294	+	Frame_Shift_Del	DEL	GACG	GACG	-													ggtgatgcccacaggacgccGacggctgtcccatcgacatc							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	GACG	GACG	-	-	GACG	GACG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:128482291_128482294delGACG	ENST00000325888.8	+	14	2389_2392	c.2128_2131delGACG	c.(2128-2133)gacggcfs	p.DG710fs	FLNC_ENST00000346177.6_Frame_Shift_Del_p.DG710fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	710					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACAGGACGCCGACGGCTGTCCCAT	0.623											OREG0018297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	1	False	7:128482291	0	-	128482294	GACG	-	128482291	7	5	103	1	0	1	0	1	0	0	0	0	5975	1058	37	0	2182	0	FLNC	7	128482291	Frame_Shift_Del	DEL	GACG	TCGA-IB-A5SQ-01A-11D-A32N-08	56083315	128482291	30656372	44	30180											
BRAF	673	broad.mit.edu	37	chr7	140477837	140477851	+	In_Frame_Del	DEL	TAGGTGCTGTCACAT	TAGGTGCTGTCACAT	-													ggcttgtaactgctgaggtgTaggtgctgtcacattcaaca							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	TAGGTGCTGTCACAT	TAGGTGCTGTCACAT	-	-	TAGGTGCTGTCACAT	TAGGTGCTGTCACAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:140477837_140477851delTAGGTGCTGTCACAT	ENST00000288602.6	-	12	1517_1531	c.1457_1471delATGTGACAGCACCTA	c.(1456-1473)aatgtgacagcacctaca>aca	p.NVTAP486del		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	486	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L485_P490>Y(2)|p.N486_P490del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGCTGAGGTGTAGGTGCTGTCACATTCAACATTTT	0.349		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				False	1	False	7:140477837	0	-	140477851	TAGGTGCTGTCACAT	-	140477837	7	5	103	1	0	1	0	1	0	0	0	0	1503	1638	57	0	857	0	BRAF	7	140477837	In_Frame_Del	DEL	TAGGTGCTGTCACAT	TCGA-IB-A5SQ-01A-11D-A32N-08	11995546	140477837	18660826	45	30181											
EPHA1	2041	broad.mit.edu	37	chr7	143096794	143096794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagccaggctcacagtggCaccgtcctacaggcaccagc	10	16	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:143096794C>T	ENST00000275815.3	-	4	871	c.785G>A	c.(784-786)tGc>tAc	p.C262Y		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	262	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTCACAGTGGCACCGTCCTAC	0.652													False	0	False	7:143096794	0	T	143096794	C	T	143096794	3	4	103	1	0	0	0	0	1	0	0	0	5197	710	25	2	2205	2	EPHA1	7	143096794	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	2618957	143096794	16041869	46	30182											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885063	88885063	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggacagccatgagcagcccTggtgctcctcggaagccccc	12	17	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:88885063T>C	ENST00000319675.3	-	1	1233	c.1137A>G	c.(1135-1137)ccA>ccG	p.P379P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	379										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGAGCAGCCCTGGTGCTCCTC	0.562													False	0	True	8:88885063	0	C	88885063	T	C	88885063	2	2	103	1	0	0	0	0	0	0	0	1	4297	1567	55	4		4	DCAF4L2	8	88885063	Silent	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08		88885063	57478959	47	30183											
FAM135B	51059	broad.mit.edu	37	chr8	139165382	139165382	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctatttaccatacagttatCttccttgtctttcagattca	4	10	4	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:139165382C>T	ENST00000395297.1	-	13	1506	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	446										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATACAGTTATCTTCCTTGTCT	0.328										HNSCC(54;0.14)			False	0	False	8:139165382	0	T	139165382	C	T	139165382	3	4	103	1	0	0	0	0	1	0	0	0	5485	913	32	2	2916	2	FAM135B	8	139165382	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	50280319	139165382	7198640	48	30184											
PLEC	5339	broad.mit.edu	37	chr8	144996470	144996470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcctgctcgatgaagcGctcccgctgtagcaggctgt	11	14	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:144996470G>A	ENST00000322810.4	-	32	8099	c.7930C>T	c.(7930-7932)Cgc>Tgc	p.R2644C	PLEC_ENST00000527096.1_Missense_Mutation_p.R2530C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2511C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2485C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2507C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2534C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2507C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2475C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2493C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2644	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGATGAAGCGCTCCCGCTGT	0.627													False	0	False	8:144996470	0	A	144996470	G	A	144996470	3	1	103	1	0	0	0	0	1	0	0	0	12121	1087	38	1	6128	1	PLEC	8	144996470	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	5831088	144996470	1367552	49	30185											
CEL	1056	broad.mit.edu	37	chr9	135940495	135940495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggggtccggccatgggGccaacttcctcaacaactac	10	14	2	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:135940495G>A	ENST00000372080.4	+	4	434	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	CEL_ENST00000351304.7_Missense_Mutation_p.A137T	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	137					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGGCCATGGGGCCAACTTCCT	0.612													False	0	True	9:135940495	0	A	135940495	G	A	135940495	3	1	103	1	0	0	0	0	1	0	0	0	3232	1203	42	2	432	2	CEL	9	135940495	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		135940495	5272936	50	30186											
DBH	1621	broad.mit.edu	37	chr9	136508639	136508639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacttcagcgggccctgCgactccaagatgaaacccga	9	17	1	2	rs78200745		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:136508639C>T	ENST00000393056.2	+	4	861	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	283					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GCGGGCCCTGCGACTCCAAGA	0.662													False	0	False	9:136508639	0	T	136508639	C	T	136508639	2	4	103	1	0	0	0	0	0	0	0	1	4275	776	27	1		1	DBH	9	136508639	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	568144	136508639	4704792	51	30187											
SEC16A	9919	broad.mit.edu	37	chr9	139360502	139360502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattgctgcggtaggtgccGtaggcaaaatcgccgtgaaa	13	8	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:139360502G>A	ENST00000313050.7	-	6	4288	c.4215C>T	c.(4213-4215)taC>taT	p.Y1405Y	SEC16A_ENST00000290037.6_Silent_p.Y1227Y|SEC16A_ENST00000371706.3_Silent_p.Y1227Y|SEC16A_ENST00000431893.2_Silent_p.Y1227Y	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1227					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTAGGTGCCGTAGGCAAAAT	0.577													False	0	False	9:139360502	0	A	139360502	G	A	139360502	2	1	103	1	0	0	0	0	0	0	0	1	14067	1140	40	1		1	SEC16A	9	139360502	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	2851863	139360502	1852929	52	30188											
CACNA1B	774	broad.mit.edu	37	chr9	140772549	140772550	+	In_Frame_Ins	INS	-	-	CATGGCGCTGTACAACCCCAT													atcgcgcagcgcgcgcggacINScatggcgctgtacaacccca							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:140772549_140772550insCATGGCGCTGTACAACCCCAT	ENST00000371372.1	+	1	309_310	c.164_165insCATGGCGCTGTACAACCCCAT	c.(163-168)accatg>acCATGGCGCTGTACAACCCCATcatg	p.56_57insALYNPIM	CACNA1B_ENST00000371355.4_In_Frame_Ins_p.56_57insALYNPIM|CACNA1B_ENST00000371357.1_In_Frame_Ins_p.56_57insALYNPIM|CACNA1B_ENST00000277549.5_De_novo_Start_InFrame|CACNA1B_ENST00000371363.1_In_Frame_Ins_p.56_57insALYNPIM|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277551.2_In_Frame_Ins_p.56_57insALYNPIM	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	56					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGCGCGCGGACCATGGCGCTGT	0.708													False	0	False	9:140772549	0	CATGGCGCTGTACAACCCCAT	140772550	-	CATGGCGCTGTACAACCCCAT	140772549	7	5	103	1	0	1	1	0	0	0	0	0	2559	507	18	0	166	0	CACNA1B	9	140772549	In_Frame_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	1412047	140772549	440882	53	30189											
AGAP8	728404	broad.mit.edu	37	chr10	51225503	51225503	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcatccagctccagagatcgCacacgggaaaggcgggtgcc	13	13	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:51225503C>G	ENST00000602930.1	-	9	1980	c.1431G>C	c.(1429-1431)gtG>gtC	p.V477V	AGAP8_ENST00000425119.2_Silent_p.V493V	NM_001276343.1	NP_001263272.1	Q5SRD3	AGAP8_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 8	493	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						CCAGAGATCGCACACGGGAAA	0.532													False	0	False	10:51225503	0	G	51225503	C	G	51225503	2	3	103	1	0	0	0	0	0	0	0	1	374	697	25	5		5	AGAP8	10	51225503	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		51225503	84309244	54	30190											
PSD	5662	broad.mit.edu	37	chr10	104164422	104164422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctgggaaggggggcGcagagaacatagcggctact	17	9	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:104164422G>A	ENST00000020673.5	-	15	3144	c.2618C>T	c.(2617-2619)gCg>gTg	p.A873V	PSD_ENST00000406432.1_Missense_Mutation_p.A873V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	873					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GAAGGGGGGCGCAGAGAACAT	0.622													False	0	False	10:104164422	0	A	104164422	G	A	104164422	3	1	103	1	0	0	0	0	1	0	0	0	12722	1087	38	1	468	1	PSD	10	104164422	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	52938919	104164422	31370325	55	30191											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362124	105362124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccccgggaggtttggAggggatggggggcgtggcct	22	8	0	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:105362124A>G	ENST00000369774.4	-	15	3127	c.2851T>C	c.(2851-2853)Tcc>Ccc	p.S951P	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S818P|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S923P|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S786P			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	951					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGAGGTTTGGAGGGGATGGGG	0.622													False	0	True	10:105362124	0	G	105362124	A	G	105362124	3	3	103	1	0	0	0	0	1	0	0	0	14337	304	11	4	554	4	SH3PXD2A	10	105362124	Missense_Mutation	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08	1197702	105362124	30172623	56	30192											
OR5F1	338674	broad.mit.edu	37	chr11	55761879	55761879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catctttggggtgatggtagTtgagttacaaacgtccacaa	11	7	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:55761879T>G	ENST00000278409.1	-	1	222	c.223A>C	c.(223-225)Act>Cct	p.T75P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGATGGTAGTTGAGTTACAA	0.443													False	0	False	11:55761879	0	G	55761879	T	G	55761879	3	3	103	1	0	0	0	0	1	0	0	0	11226	1725	60	4	724	4	OR5F1	11	55761879	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08		55761879	79244637	57	30193											
SLC22A20	0	broad.mit.edu	37	chr11	65004295	65004295	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcctggctgggctggccGtctgcgtcctgaccgagacc	13	15	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:65004295G>A	ENST00000525437.1	+	0	1545							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TGGGCTGGCCGTCTGCGTCCT	0.657													False	0	False	11:65004295	0	A	65004295	G	A	65004295	1	1	103	0	1	0	0	0	0	0	0	0	14532	1160	40	1		1	SLC22A20	11	65004295	RNA	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	9242416	65004295	70002221	58	30194											
SYTL2	54843	broad.mit.edu	37	chr11	85468696	85468696	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcttcttcggccctcttcaGagcagcatcccgctgcaaaa	7	16	4	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:85468696G>A	ENST00000316356.4	-	2	637	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Silent_p.L25L|SYTL2_ENST00000528231.1_Silent_p.L25L|SYTL2_ENST00000389960.4_Silent_p.L25L			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	25	RabBD.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCCCTCTTCAGAGCAGCATCC	0.478													False	0	False	11:85468696	0	A	85468696	G	A	85468696	2	1	103	1	0	0	0	0	0	0	0	1	15565	933	33	2		2	SYTL2	11	85468696	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	20464401	85468696	49537820	59	30195											
RDX	5962	broad.mit.edu	37	chr11	110108327	110108327	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcttcttcttttgctcGttttcgttcttgatccagtt	6	10	4	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:110108327G>A	ENST00000343115.4	-	11	1460	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	RDX_ENST00000528900.1_Nonsense_Mutation_p.R34*|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Nonsense_Mutation_p.R245*|RDX_ENST00000405097.1_Nonsense_Mutation_p.R381*|RDX_ENST00000528498.1_Nonsense_Mutation_p.R381*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	381	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCTTTTGCTCGTTTTCGTTCT	0.428													False	0	True	11:110108327	0	A	110108327	G	A	110108327	4	1	103	1	0	0	0	0	0	1	0	0	13277	1153	40	1	626	1	RDX	11	110108327	Nonsense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	24639631	110108327	24898189	60	30196											
GPR162	27239	broad.mit.edu	37	chr12	6933844	6933844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcctcgctggatggctcGgagtctgccaagacatccct	12	14	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:6933844G>A	ENST00000311268.3	+	2	1567	c.780G>A	c.(778-780)tcG>tcA	p.S260S	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	260						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TGGATGGCTCGGAGTCTGCCA	0.622													False	0	False	12:6933844	0	A	6933844	G	A	6933844	2	1	103	1	0	0	0	0	0	0	0	1	6712	1103	39	1		1	GPR162	12	6933844	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		6933844	126918051	61	30197											
CD163	9332	broad.mit.edu	37	chr12	7635290	7635290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcaagaagaataatgcgaCgaaaatggccaacagaacaa	9	7	1	3	rs139478533	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:7635290C>A	ENST00000359156.4	-	14	3398	c.3196G>T	c.(3196-3198)Gtc>Ttc	p.V1066F	CD163_ENST00000541972.1_Missense_Mutation_p.V1054F|CD163_ENST00000432237.2_Missense_Mutation_p.V1066F|CD163_ENST00000396620.3_Missense_Mutation_p.V1099F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1066					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.V1066I(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AATAATGCGACGAAAATGGCC	0.423													False	0	False	12:7635290	0	A	7635290	C	A	7635290	3	1	103	1	0	0	0	0	1	0	0	0	2990	536	19	3	286	3	CD163	12	7635290	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	701446	7635290	126216605	62	30198											
TAS2R50	259296	broad.mit.edu	37	chr12	11138881	11138881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagattagcatcagaaaagaTatcagggacagagtaaaggg	12	5	2	4			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:11138881T>C	ENST00000506868.1	-	1	630	c.579A>G	c.(577-579)atA>atG	p.I193M	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	193					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TCAGAAAAGATATCAGGGACA	0.408													False	0	False	12:11138881	0	C	11138881	T	C	11138881	3	2	103	1	0	0	0	0	1	0	0	0	15666	1396	49	4	324	4	TAS2R50	12	11138881	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	3503591	11138881	122713014	63	30199											
GRIN2B	2904	broad.mit.edu	37	chr12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttagccatgttcttggccGtgcgcagcaggcgcaggatg	16	10	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTCTTGGCCGTGCGCAGCAG	0.582													False	0	False	12:13717461	0	A	13717461	G	A	13717461	3	1	103	1	0	0	0	0	1	0	0	0	6827	1145	40	1	1747	1	GRIN2B	12	13717461	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	2578580	13717461	120134434	64	30200											
SLCO1B3	28234	broad.mit.edu	37	chr12	21015401	21015401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtcttcatggggaatatGcttcgtggcataggggaaac	13	6	2	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:21015401G>A	ENST00000381545.3	+	7	756	c.537G>A	c.(535-537)atG>atA	p.M179I	LST3_ENST00000540229.1_Missense_Mutation_p.M179I|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.M179I|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.M179I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	179					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGGGGAATATGCTTCGTGGCA	0.378													False	0	False	12:21015401	0	A	21015401	G	A	21015401	3	1	103	1	0	0	0	0	1	0	0	0	14804	1319	46	2	555	2	SLCO1B3	12	21015401	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	7297940	21015401	112836494	65	30201											
KRT80	144501	broad.mit.edu	37	chr12	52566851	52566851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagagaggatctgggaccGcagcttctggatgcgcacat	14	10	2	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:52566851G>A	ENST00000313234.5	-	6	1025	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	KRT80_ENST00000394815.2_Missense_Mutation_p.R310W	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	310	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		ATCTGGGACCGCAGCTTCTGG	0.637													False	0	False	12:52566851	0	A	52566851	G	A	52566851	3	1	103	1	0	0	0	0	1	0	0	0	8544	1086	38	1	481	1	KRT80	12	52566851	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	31551450	52566851	81285044	66	30202											
TARBP2	6895	broad.mit.edu	37	chr12	53898955	53898955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaattggcaaagcggaatgCggcggccaaaatgctgcttc	12	9	0	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:53898955C>T	ENST00000266987.2	+	7	1133	c.650C>T	c.(649-651)gCg>gTg	p.A217V	TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V|TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V|TARBP2_ENST00000552857.1_Intron	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	217	DRBM 2.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						AAGCGGAATGCGGCGGCCAAA	0.572													False	0	False	12:53898955	0	T	53898955	C	T	53898955	3	4	103	1	0	0	0	0	1	0	0	0	15638	768	27	1	676	1	TARBP2	12	53898955	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	1332104	53898955	79952940	67	30203											
GPR84	0	broad.mit.edu	37	chr12	54756512	54756512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatgcttggcggaattggCggttcatggctgcatagagc	14	8	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:54756512C>T	ENST00000551809.1	-	1	1759	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	GPR84_ENST00000267015.3_Missense_Mutation_p.R375H|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	375						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GCGGAATTGGCGGTTCATGGC	0.542													False	0	False	12:54756512	0	T	54756512	C	T	54756512	3	4	103	1	0	0	0	0	1	0	0	0	6760	768	27	1	70	1	GPR84	12	54756512	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	857557	54756512	79095383	68	30204											
DUSP6	1848	broad.mit.edu	37	chr12	89745479	89745479	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgagcagcagcccgagcaccGactcgccgcccgtattctcg	11	17	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:89745479G>T	ENST00000279488.7	-	1	1569	c.338C>A	c.(337-339)tCg>tAg	p.S113*	DUSP6_ENST00000308385.6_Nonsense_Mutation_p.S113*	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	113	Rhodanese.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CCCGAGCACCGACTCGCCGCC	0.682													False	0	False	12:89745479	0	T	89745479	G	T	89745479	4	4	103	1	0	0	0	0	0	1	0	0	4859	1059	37	3	819	3	DUSP6	12	89745479	Nonsense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	34988967	89745479	44106416	69	30205											
GCN1L1	10985	broad.mit.edu	37	chr12	120602186	120602186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctccaagagtccgtgcGccagcttaaagcccccaaga	9	16	0	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:120602186G>A	ENST00000300648.6	-	18	1814	c.1802C>T	c.(1801-1803)gCg>gTg	p.A601V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	601					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGTCCGTGCGCCAGCTTAAA	0.612													False	0	False	12:120602186	0	A	120602186	G	A	120602186	3	1	103	1	0	0	0	0	1	0	0	0	6342	1087	38	1	6377	1	GCN1L1	12	120602186	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	30856707	120602186	13249709	70	30206											
ATP12A	479	broad.mit.edu	37	chr13	25262530	25262530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcacccctcccaagcagaCgcctgagatcgtcaagttcc	7	18	2	2	rs146927457		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr13:25262530C>A	ENST00000218548.6	+	4	635	c.302C>A	c.(301-303)aCg>aAg	p.T101K	ATP12A_ENST00000381946.3_Missense_Mutation_p.T101K	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	101					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCCAAGCAGACGCCTGAGATC	0.587													False	0	False	13:25262530	0	A	25262530	C	A	25262530	3	1	103	1	0	0	0	0	1	0	0	0	1126	536	19	3	316	3	ATP12A	13	25262530	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		25262530	89907348	71	30207											
TTC9	23508	broad.mit.edu	37	chr14	71134284	71134284	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcccttcctccatagcctGcctgctccaggctgagctgg	9	18	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:71134284G>T	ENST00000256367.2	+	2	753	c.410G>T	c.(409-411)tGc>tTc	p.C137F		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	137							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		TCCATAGCCTGCCTGCTCCAG	0.512													False	0	True	14:71134284	0	T	71134284	G	T	71134284	3	4	103	1	0	0	0	0	1	0	0	0	16799	1319	46	3	416	3	TTC9	14	71134284	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		71134284	36215256	72	30208											
FAM181A	90050	broad.mit.edu	37	chr14	94394668	94394668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaagatgctgctgaacTtcgtgaacctggcgtccagc	12	10	0	4			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:94394668T>G	ENST00000267594.5	+	3	530	c.223T>G	c.(223-225)Ttc>Gtc	p.F75V	FAM181A_ENST00000556222.1_Missense_Mutation_p.F13V|FAM181A_ENST00000557000.2_Missense_Mutation_p.F13V|FAM181A_ENST00000557719.1_Missense_Mutation_p.F13V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	75										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GCTGCTGAACTTCGTGAACCT	0.607													False	0	False	14:94394668	0	G	94394668	T	G	94394668	3	3	103	1	0	0	0	0	1	0	0	0	5544	1609	56	4	229	4	FAM181A	14	94394668	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	23260384	94394668	12954872	73	30209											
RYR3	6263	broad.mit.edu	37	chr15	33795853	33795853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattcctccagatctctgcGtctgcaattttgtgctggaa	8	11	2	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:33795853G>A	ENST00000389232.4	+	3	263	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	RYR3_ENST00000415757.3_Missense_Mutation_p.V65I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	65					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGATCTCTGCGTCTGCAATTT	0.473													False	0	False	15:33795853	0	A	33795853	G	A	33795853	3	1	103	1	0	0	0	0	1	0	0	0	13849	1145	40	1	203	1	RYR3	15	33795853	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		33795853	68735539	74	30210											
SPRED1	161742	broad.mit.edu	37	chr15	38643373	38643373	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgattccagtattcaGttttctaaaccagacagtaa	7	8	2	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:38643373G>C	ENST00000299084.4	+	7	1703	c.843G>C	c.(841-843)caG>caC	p.Q281H		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	281	KBD.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCAGTATTCAGTTTTCTAAAC	0.398									Legius syndrome				False	0	True	15:38643373	0	C	38643373	G	C	38643373	3	2	103	1	0	0	0	0	1	0	0	0	15174	1020	36	5	869	5	SPRED1	15	38643373	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	4847520	38643373	63888019	75	30211											
LINGO1	84894	broad.mit.edu	37	chr15	77907604	77907604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcaggacgatgaggccGtgcaggtgggacagcgcctc	16	12	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:77907604G>A	ENST00000355300.6	-	2	819	c.645C>T	c.(643-645)caC>caT	p.H215H	LINGO1_ENST00000561030.1_Silent_p.H209H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	215					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGATGAGGCCGTGCAGGTGGG	0.607													False	0	False	15:77907604	0	A	77907604	G	A	77907604	2	1	103	1	0	0	0	0	0	0	0	1	8867	1136	40	1		1	LINGO1	15	77907604	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	39264231	77907604	24623788	76	30212											
ACAN	176	broad.mit.edu	37	chr15	89386864	89386864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccctcatcccgctacgacGccatctgctacacaggtggg	9	17	2	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:89386864G>A	ENST00000439576.2	+	6	1410	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	ACAN_ENST00000352105.7_Missense_Mutation_p.A346T|ACAN_ENST00000561243.1_Missense_Mutation_p.A346T|ACAN_ENST00000558207.1_Missense_Mutation_p.A346T|ACAN_ENST00000559004.1_Missense_Mutation_p.A346T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	346					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCGCTACGACGCCATCTGCTA	0.632													False	0	False	15:89386864	0	A	89386864	G	A	89386864	3	1	103	1	0	0	0	0	1	0	0	0	117	1087	38	1	1054	1	ACAN	15	89386864	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	11479260	89386864	13144528	77	30213											
KIAA0430	9665	broad.mit.edu	37	chr16	15729930	15729930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgattgtcctggtgctttgCgagtctaacagtgcgcccgg	14	10	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:15729930C>T	ENST00000396368.3	-	3	620	c.414G>A	c.(412-414)tcG>tcA	p.S138S	KIAA0430_ENST00000548025.1_Silent_p.S138S|KIAA0430_ENST00000540441.2_Silent_p.S138S|KIAA0430_ENST00000602337.1_Silent_p.S138S|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_Silent_p.S138S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	137						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGTGCTTTGCGAGTCTAACA	0.547													False	0	False	16:15729930	0	T	15729930	C	T	15729930	2	4	103	1	0	0	0	0	0	0	0	1	8227	755	27	1		1	KIAA0430	16	15729930	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		15729930	74624823	78	30214											
ARHGAP17	55114	broad.mit.edu	37	chr16	24942323	24942323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactggggttctgttttcctAggggcggagtactggggggc	19	7	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:24942323A>G	ENST00000289968.6	-	19	2366	c.2297T>C	c.(2296-2298)cTa>cCa	p.L766P	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.L688P	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	766	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTGTTTTCCTAGGGGCGGAGT	0.617													False	0	True	16:24942323	0	G	24942323	A	G	24942323	3	3	103	1	0	0	0	0	1	0	0	0	869	420	15	4	356	4	ARHGAP17	16	24942323	Missense_Mutation	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08	9212393	24942323	65412430	79	30215											
HEXIM1	10614	broad.mit.edu	37	chr17	43227456	43227456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggagaagtgcctctcgcGcatggaggacgagaacaacc	13	11	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:43227456G>A	ENST00000332499.2	+	1	2773	c.899G>A	c.(898-900)cGc>cAc	p.R300H		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	300	Mediates interaction with CCNT1.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGCCTCTCGCGCATGGAGGAC	0.642													False	0	False	17:43227456	0	A	43227456	G	A	43227456	3	1	103	1	0	0	0	0	1	0	0	0	7123	1087	38	1	901	1	HEXIM1	17	43227456	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		43227456	37967754	80	30216											
ZACN	353174	broad.mit.edu	37	chr17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctccgggccattgagcGcataggctacaaggtgacat	12	13	0	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622													False	0	False	17:74077738	0	A	74077738	G	A	74077738	3	1	103	1	0	0	0	0	1	0	0	0	17594	1087	38	1	808	1	ZACN	17	74077738	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	30850282	74077738	7117472	81	30217											
SHD	56961	broad.mit.edu	37	chr19	4283173	4283173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgccccaggaagatgaaCggccagcagatgagtatgat	14	8	0	5			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:4283173C>T	ENST00000543264.2	+	3	1989	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	SHD_ENST00000599689.1_Missense_Mutation_p.R176W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	176										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGATGAACGGCCAGCAGA	0.567													False	0	False	19:4283173	0	T	4283173	C	T	4283173	3	4	103	1	0	0	0	0	1	0	0	0	14356	527	19	1	536	1	SHD	19	4283173	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		4283173	54845810	82	30218											
PLIN4	729359	broad.mit.edu	37	chr19	4511859	4511859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgacattcactgcccccaTgagcccagtagtgactgtgt	11	13	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:4511859T>C	ENST00000301286.3	-	3	2070	c.2071A>G	c.(2071-2073)Atg>Gtg	p.M691V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	691	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACTGCCCCCATGAGCCCAGTA	0.592													False	0	False	19:4511859	0	C	4511859	T	C	4511859	3	2	103	1	0	0	0	0	1	0	0	0	12161	1464	51	4	2018	4	PLIN4	19	4511859	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	228686	4511859	54617124	83	30219											
C3	718	broad.mit.edu	37	chr19	6692960	6692960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttggtgtatcacgggcGcatcctcctggaagaccccg	11	13	2	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:6692960G>A	ENST00000245907.6	-	26	3457	c.3365C>T	c.(3364-3366)gCg>gTg	p.A1122V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1122					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TATCACGGGCGCATCCTCCTG	0.557													False	0	False	19:6692960	0	A	6692960	G	A	6692960	3	1	103	1	0	0	0	0	1	0	0	0	2220	1087	38	1	1690	1	C3	19	6692960	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	2181101	6692960	52436023	84	30220											
SMARCA4	6597	broad.mit.edu	37	chr19	11143994	11143994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcaggaccgagcccaccGcatcgggcagcagaacgagg	15	14	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:11143994G>A	ENST00000358026.2	+	26	3859	c.3575G>A	c.(3574-3576)cGc>cAc	p.R1192H	SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1192	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGAGCCCACCGCATCGGGCAG	0.612			"F, N, Mis"		NSCLC								False	0	False	19:11143994	0	A	11143994	G	A	11143994	3	1	103	1	0	0	0	0	1	0	0	0	14850	1087	38	1	3673	1	SMARCA4	19	11143994	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	4451034	11143994	47984989	85	30221											
PKN1	5585	broad.mit.edu	37	chr19	14581660	14581660	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgaagaaacagcccttcttCagggtgagattccccacaag	10	11	2	3			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:14581660C>T	ENST00000242783.6	+	21	2787	c.2622C>T	c.(2620-2622)ttC>ttT	p.F874F	PKN1_ENST00000342216.4_Silent_p.F880F	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	874	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						AGCCCTTCTTCAGGGTGAGAT	0.607													False	0	False	19:14581660	0	T	14581660	C	T	14581660	2	4	103	1	0	0	0	0	0	0	0	1	12048	825	29	2		2	PKN1	19	14581660	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	3437666	14581660	44547323	86	30222											
CHERP	10523	broad.mit.edu	37	chr19	16652806	16652806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaaactcgggcccattgCgagccacgaactgggcgagc	12	14	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:16652806C>T	ENST00000546361.2	-	2	225	c.74G>A	c.(73-75)cGc>cAc	p.R25H	CHERP_ENST00000198939.6_Missense_Mutation_p.R25H|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	25					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGGCCCATTGCGAGCCACGAA	0.547													False	0	False	19:16652806	0	T	16652806	C	T	16652806	3	4	103	1	0	0	0	0	1	0	0	0	3359	768	27	1	2740	1	CHERP	19	16652806	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	2071146	16652806	42476177	87	30223											
GIPR	2696	broad.mit.edu	37	chr19	46178073	46178073	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttggggaccaggcccttgcgCtgtggaaccaggtgggcatc	16	11	0	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:46178073C>G	ENST00000590918.1	+	7	721	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V	GIPR_ENST00000263281.3_Missense_Mutation_p.L208V|GIPR_ENST00000304207.8_Missense_Mutation_p.L172V	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	208					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGCCCTTGCGCTGTGGAACCA	0.577													False	0	False	19:46178073	0	G	46178073	C	G	46178073	3	3	103	1	0	0	0	0	1	0	0	0	6440	796	28	5	644	5	GIPR	19	46178073	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	29525267	46178073	12950910	88	30224											
GLTSCR2	29997	broad.mit.edu	37	chr19	48248871	48248871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagctcgaaaagcgatgccGattctggtttcctggggctg	14	10	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:48248871G>A	ENST00000246802.5	+	1	93	c.55G>A	c.(55-57)Gat>Aat	p.D19N	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	19						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		AAGCGATGCCGATTCTGGTTT	0.642													False	0	False	19:48248871	0	A	48248871	G	A	48248871	3	1	103	1	0	0	0	0	1	0	0	0	6520	1058	37	1	57	1	GLTSCR2	19	48248871	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	2070798	48248871	10880112	89	30225											
KLK11	11012	broad.mit.edu	37	chr19	51527499	51527499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggggaaggactcagtggCtgtccgggtctgctcacagc	17	10	3	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:51527499C>T	ENST00000594768.1	-	4	546	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000319720.7_Missense_Mutation_p.A89T|KLK11_ENST00000453757.3_Missense_Mutation_p.A89T|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000391804.3_Missense_Mutation_p.A114T	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	121	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GACTCAGTGGCTGTCCGGGTC	0.582													False	0	False	19:51527499	0	T	51527499	C	T	51527499	3	4	103	1	0	0	0	0	1	0	0	0	8449	797	28	2	499	2	KLK11	19	51527499	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	3278628	51527499	7601484	90	30226											
ZNF845	91664	broad.mit.edu	37	chr19	53848784	53848784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgacattcagggatgtggCcatagaattctctcaggaag	11	7	3	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:53848784C>T	ENST00000458035.1	+	3	158	c.41C>T	c.(40-42)gCc>gTc	p.A14V	ZNF845_ENST00000595091.1_Missense_Mutation_p.A14V	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	14	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGGGATGTGGCCATAGAATTC	0.453													False	0	False	19:53848784	0	T	53848784	C	T	53848784	3	4	103	1	0	0	0	0	1	0	0	0	18273	739	26	2	47	2	ZNF845	19	53848784	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	2321285	53848784	5280199	91	30227											
LILRB2	0	broad.mit.edu	37	chr19	54782813	54782813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcccagcctggggctgcCggccagggagctggcgaagg	19	12	0	1	rs141001610	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:54782813C>T	ENST00000391748.1	-	6	936	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	LILRB2_ENST00000434421.1_Missense_Mutation_p.R154Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.R270Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270Q|LILRB2_ENST00000391746.1_Missense_Mutation_p.R270Q	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	270	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGGGCTGCCGGCCAGGGAG	0.627													False	0	False	19:54782813	0	T	54782813	C	T	54782813	3	4	103	1	0	0	0	0	1	0	0	0	8843	652	23	1	1023	1	LILRB2	19	54782813	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	934029	54782813	4346170	92	30228											
YTHDF1	54915	broad.mit.edu	37	chr20	61834082	61834082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggagtacttaatggagcGgtggatgtcgtcctcagagt	15	6	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:61834082G>A	ENST00000370339.3	-	4	1551	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.R354C	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	404	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTAATGGAGCGGTGGATGTCG	0.552													False	0	False	20:61834082	0	A	61834082	G	A	61834082	3	1	103	1	0	0	0	0	1	0	0	0	17582	1116	39	1	477	1	YTHDF1	20	61834082	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		61834082	1191438	93	30229											
SAMSN1	64092	broad.mit.edu	37	chr21	15882757	15882757	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtcccggttacttgtAccatctgaacagcttgttat	8	10	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:15882757A>G	ENST00000285670.2	-	6	813	c.639T>C	c.(637-639)ggT>ggC	p.G213G	SAMSN1_ENST00000400566.1_Silent_p.G145G|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	145	SH3.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGTTACTTGTACCATCTGAAC	0.473													False	0	False	21:15882757	0	G	15882757	A	G	15882757	2	3	103	1	0	0	0	0	0	0	0	1	13909	378	14	4		4	SAMSN1	21	15882757	Silent	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08		15882757	32247138	94	30230											
IFNAR2	3455	broad.mit.edu	37	chr21	34634926	34634926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaggtgcagtcataatgcaCtacagtctgaaactcctgag	9	10	2	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:34634926C>A	ENST00000404220.3	+	9	1230	c.901C>A	c.(901-903)Cta>Ata	p.L301I	IFNAR2_ENST00000382264.3_Missense_Mutation_p.L301I|IFNAR2_ENST00000382241.3_Intron|IFNAR2_ENST00000413881.1_Intron|IFNAR2_ENST00000342101.3_Intron|IFNAR2_ENST00000342136.4_Intron|AP000295.9_ENST00000433395.2_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	0					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	tcataatgcactacagtctga	0.443													False	0	False	21:34634926	0	A	34634926	C	A	34634926	3	1	103	1	0	0	0	0	1	0	0	0	7595	564	20	3	931	3	IFNAR2	21	34634926	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	18752169	34634926	13494969	95	30231											
SLC5A3	6526	broad.mit.edu	37	chr21	35468701	35468701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaacttatccgcaagagcGcaagctcccgggagttaatg	10	11	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:35468701G>A	ENST00000608209.1	+	2	1716	c.1204G>A	c.(1204-1206)Gca>Aca	p.A402T	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Missense_Mutation_p.A402T	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCGCAAGAGCGCAAGCTCCCG	0.478													False	0	False	21:35468701	0	A	35468701	G	A	35468701	3	1	103	1	0	0	0	0	1	0	0	0	14746	1087	38	1	1206	1	SLC5A3	21	35468701	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	833775	35468701	12661194	96	30232											
PES1	23481	broad.mit.edu	37	chr22	30976129	30976129	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcataggtggccccaatgcaCaaagatttgtcccaggacac	9	12	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:30976129C>G	ENST00000402281.1	-	13	1654	c.663G>C	c.(661-663)ttG>ttC	p.L221F	PES1_ENST00000402284.3_Missense_Mutation_p.L343F|PES1_ENST00000335214.6_Missense_Mutation_p.L355F|PES1_ENST00000405677.1_Missense_Mutation_p.L221F|PES1_ENST00000354694.7_Missense_Mutation_p.L360F	NM_001282327.1	NP_001269256.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	360	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCCCAATGCACAAAGATTTGT	0.577													False	0	True	22:30976129	0	G	30976129	C	G	30976129	3	3	103	1	0	0	0	0	1	0	0	0	11801	477	17	5	706	5	PES1	22	30976129	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		30976129	20328437	97	30233											
NPTXR	23467	broad.mit.edu	37	chr22	39222607	39222607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagggggtgccctggccGgtgccgctggacctggaccg	19	12	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:39222607G>A	ENST00000333039.2	-	3	1119	c.996C>T	c.(994-996)acC>acT	p.T332T		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	332	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCCCTGGCCGGTGCCGCTGG	0.637													False	0	False	22:39222607	0	A	39222607	G	A	39222607	2	1	103	1	0	0	0	0	0	0	0	1	10672	1103	39	1		1	NPTXR	22	39222607	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	8246478	39222607	12081959	98	30234											
MKL1	57591	broad.mit.edu	37	chr22	40807886	40807886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttccctggcagggatggCggctccttgaaatctgctga	12	12	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:40807886C>T	ENST00000396617.3	-	15	2904	c.2314G>A	c.(2314-2316)Gcc>Acc	p.A772T	MKL1_ENST00000355630.3_Silent_p.P768P|MKL1_ENST00000402042.1_Silent_p.P718P|MKL1_ENST00000407029.1_Silent_p.P768P	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	770	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCAGGGATGGCGGCTCCTTGA	0.532			T	RBM15	acute megakaryocytic leukemia								False	0	False	22:40807886	0	T	40807886	C	T	40807886	3	4	103	1	0	0	0	0	1	0	0	0	9668	755	27	1	495	1	MKL1	22	40807886	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	1585279	40807886	10496680	99	30235											
TTLL1	25809	broad.mit.edu	37	chr22	43459909	43459909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttcactgtgcagaaccgGcaaaacccaagcttgtacct	7	12	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:43459909G>A	ENST00000331018.7	-	7	897	c.657C>T	c.(655-657)tgC>tgT	p.C219C	TTLL1_ENST00000266254.7_Silent_p.C219C			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	219	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGCAGAACCGGCAAAACCCAA	0.458													False	0	False	22:43459909	0	A	43459909	G	A	43459909	2	1	103	1	0	0	0	0	0	0	0	1	16806	1195	42	2		2	TTLL1	22	43459909	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	2652023	43459909	7844657	100	30236											
TRO	7216	broad.mit.edu	37	chrX	54957327	54957327	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggcttcagcggtggaccGagcacaggagctggcttcgg	17	10	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:54957327G>A	ENST00000173898.7	+	12	4282	c.4170G>A	c.(4168-4170)ccG>ccA	p.P1390P	TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.P993P|TRO_ENST00000420798.2_Silent_p.P921P	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1390	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCGGTGGACCGAGCACAGGAG	0.602													False	0	False	X:54957327	0	A	54957327	G	A	54957327	2	1	103	1	0	0	0	0	0	0	0	1	16657	1045	37	1		1	TRO	23	54957327	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		54957327	100313233	101	30237											
DACH2	117154	broad.mit.edu	37	chrX	85969723	85969723	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggtacctctgttataaaGgtaagaatcgtgatttagaa	10	5	1	3			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:85969723G>T	ENST00000373131.1	+	5	1228	c.1065G>T	c.(1063-1065)aaG>aaT	p.K355N	DACH2_ENST00000510272.1_Splice_Site_p.K149N|DACH2_ENST00000508860.1_Splice_Site_p.K201N|DACH2_ENST00000373125.4_Splice_Site_p.K368N	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTGTTATAAAGGTAAGAATCG	0.393													False	0	True	X:85969723	0	T	85969723	G	T	85969723	5	4	103	1	0	0	0	0	0	0	1	0	4246	1014	35	3	1126	3	DACH2	23	85969723	Splice_Site	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	31012396	85969723	69300837	102	30238											
ATP13A2	23400	broad.mit.edu	37	chr1	17322564	17322564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcagtcggctctgggcGtagagcgtgcacacagtcat	13	13	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:17322564G>A	ENST00000452699.1	-	15	1623	c.1434C>T	c.(1432-1434)taC>taT	p.Y478Y	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Silent_p.Y483Y|ATP13A2_ENST00000341676.5_Silent_p.Y478Y|ATP13A2_ENST00000502860.1_5'UTR	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	483					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCTCTGGGCGTAGAGCGTGC	0.622													False	0	False	1:17322564	0	A	17322564	G	A	17322564	2	1	104	1	0	0	0	0	0	0	0	1	1128	1140	40	1		1	ATP13A2	1	17322564	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		17322564	231928057	1	30239											
LPAR3	23566	broad.mit.edu	37	chr1	85279562	85279562	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttattgcagactgcaccttgGctaatactatcctctatgta	6	10	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:85279562G>C	ENST00000440886.1	-	2	1067	c.1029C>G	c.(1027-1029)agC>agG	p.S343R	LPAR3_ENST00000370611.3_Missense_Mutation_p.S343R			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	343					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CTGCACCTTGGCTAATACTAT	0.532													False	0	False	1:85279562	0	C	85279562	G	C	85279562	3	2	104	1	0	0	0	0	1	0	0	0	8968	1194	42	5	36	5	LPAR3	1	85279562	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	67956998	85279562	163971059	2	30240											
NBPF10	100132406	broad.mit.edu	37	chr1	145311947	145311948	+	Frame_Shift_Del	DEL	TT	TT	-													acagcgtgttggcttggctaTtgacatggatggtgagtacc							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:145311947_145311948delTT	ENST00000369338.1	+	10	1386_1387	c.1196_1197delTT	c.(1195-1197)attfs	p.I399fs	NBPF10_ENST00000342960.5_Intron|RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000369339.2_Intron			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	672										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGCTTGGCTATTGACATGGATG	0.46													False	2	False	1:145311947	0	-	145311948	TT	-	145311947	7	5	104	1	0	1	0	1	0	0	0	0	10260	1508	52	0		0	NBPF10	1	145311947	Frame_Shift_Del	DEL	TT	TCGA-IB-A5SS-01A-11D-A32N-08	60032385	145311947	103938674	3	30241											
F5	2153	broad.mit.edu	37	chr1	169510405	169510405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggggaaaggtttgtctgaCtgagttctggagagagagtc	16	5	2	4			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:169510405C>A	ENST00000367796.3	-	13	4139	c.3938G>T	c.(3937-3939)aGt>aTt	p.S1313I	F5_ENST00000367797.3_Missense_Mutation_p.S1308I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1308	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTTTGTCTGACTGAGTTCTGG	0.512													False	0	True	1:169510405	0	A	169510405	C	A	169510405	3	1	104	1	0	0	0	0	1	0	0	0	5381	565	20	3	2803	3	F5	1	169510405	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	24198458	169510405	79740216	4	30242											
VAMP4	8674	broad.mit.edu	37	chr1	171679889	171679889	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttcatctagtctctcccctCtctcaattacctttgtaata	3	13	5	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:171679889C>G	ENST00000236192.7	-	5	616	c.230G>C	c.(229-231)aGa>aCa	p.R77T	VAMP4_ENST00000482519.1_Intron|VAMP4_ENST00000367740.2_Missense_Mutation_p.R76T|VAMP4_ENST00000415773.1_Missense_Mutation_p.R76T	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	77	v-SNARE coiled-coil homology.				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCTCTCCCCTCTCTCAATTAC	0.323													False	0	True	1:171679889	0	G	171679889	C	G	171679889	3	3	104	1	0	0	0	0	1	0	0	0	17199	913	32	5	211	5	VAMP4	1	171679889	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	2169484	171679889	77570732	5	30243											
ASTN1	460	broad.mit.edu	37	chr1	176926840	176926840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagtggagtccagcttgcGatctgaaatacagcggaaat	11	9	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:176926840G>A	ENST00000367654.3	-	11	2096	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.R621C|ASTN1_ENST00000424564.2_Missense_Mutation_p.R621C|ASTN1_ENST00000367657.3_Missense_Mutation_p.R621C	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1		EGF-like 2.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCAGCTTGCGATCTGAAATA	0.537													False	0	False	1:176926840	0	A	176926840	G	A	176926840	3	1	104	1	0	0	0	0	1	0	0	0	1068	1058	37	1	2079	1	ASTN1	1	176926840	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	5246951	176926840	72323781	6	30244											
HLX	3142	broad.mit.edu	37	chr1	221057751	221057751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatggcccccagcgacaCggagcggactgaggggagtg	18	11	0	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:221057751C>T	ENST00000366903.6	+	4	2673	c.1172C>T	c.(1171-1173)aCg>aTg	p.T391M	HLX_ENST00000549319.1_Missense_Mutation_p.T177M	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	391	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CCCAGCGACACGGAGCGGACT	0.642													False	0	False	1:221057751	0	T	221057751	C	T	221057751	3	4	104	1	0	0	0	0	1	0	0	0	7263	536	19	1	1186	1	HLX	1	221057751	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	44130911	221057751	28192870	7	30245											
OR2G6	391211	broad.mit.edu	37	chr1	248685733	248685733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattcatgtaccttcaaccGgccaataggagatccaaaaa	6	10	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:248685733G>A	ENST00000343414.4	+	1	818	c.786G>A	c.(784-786)ccG>ccA	p.P262P		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTTCAACCGGCCAATAGGA	0.448													False	0	False	1:248685733	0	A	248685733	G	A	248685733	2	1	104	1	0	0	0	0	0	0	0	1	11068	1103	39	1		1	OR2G6	1	248685733	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	27627982	248685733	564888	8	30246											
VWA3B	200403	broad.mit.edu	37	chr2	98914394	98914394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaagaagtgtgtgagccGcacccaagcactggtgggct	15	9	0	3	rs146321928	by1000genomes	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:98914394G>A	ENST00000477737.1	+	24	3386	c.3182G>A	c.(3181-3183)cGc>cAc	p.R1061H	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1061										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTGTGAGCCGCACCCAAGCA	0.532													False	0	False	2:98914394	0	A	98914394	G	A	98914394	3	1	104	1	0	0	0	0	1	0	0	0	17325	1087	38	1	3272	1	VWA3B	2	98914394	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		98914394	144284979	9	30247											
TTN	7273	broad.mit.edu	37	chr2	179453342	179453342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcattttctgccttgacaCggaactgatattcatggtct	7	9	4	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:179453342C>A	ENST00000589042.1	-	304	63334	c.63110G>T	c.(63109-63111)cGt>cTt	p.R21037L	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18469L|TTN_ENST00000359218.5_Missense_Mutation_p.R12097L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11972L|TTN_ENST00000591111.1_Missense_Mutation_p.R19396L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12164L|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19396	Fibronectin type-III 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCTTGACACGGAACTGATA	0.458													False	0	False	2:179453342	0	A	179453342	C	A	179453342	3	1	104	1	0	0	0	0	1	0	0	0	16819	536	19	3	45105	3	TTN	2	179453342	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	80538948	179453342	63746031	10	30248											
CXCR2	3579	broad.mit.edu	37	chr2	219000390	219000390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagacctgtgagcgccGcaatcacatcgaccgggctc	12	15	1	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:219000390G>A	ENST00000318507.2	+	3	1293	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	289					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGTGAGCGCCGCAATCACATC	0.597													False	0	False	2:219000390	0	A	219000390	G	A	219000390	3	1	104	1	0	0	0	0	1	0	0	0	4116	1087	38	1	868	1	CXCR2	2	219000390	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	39547048	219000390	24198983	11	30249											
SP140	11262	broad.mit.edu	37	chr2	231112711	231112712	+	In_Frame_Ins	INS	-	-	TCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT													acagggagaggaggaaggcaINSggaacagtcccagaaaaaga							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:231112711_231112712insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	ENST00000343805.6	+	7	845_846	c.745_746insTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	c.(745-747)agg>aTCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGTgg	p.249_249R>ISESVCNFHIISLD*W	SP140_ENST00000392045.3_In_Frame_Ins_p.275_275R>ISESVCNFHIISLD*W|SP140_ENST00000350136.5_Intron|SP140_ENST00000420434.3_In_Frame_Ins_p.275_275R>ISESVCNFHIISLD*W|SP140_ENST00000417495.3_Intron|SP140_ENST00000486687.2_Intron	NM_001278452.1	NP_001265381.1	Q13342	LY10_HUMAN	SP140 nuclear body protein	275					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAGGAAGGCAGGAACAGTCCC	0.48													False	0	False	2:231112711	0	TCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	231112712	-	TCTCTGAGAGTGTATGTAATTTCCATATAATTTCACTAGATTAGT	231112711	7	5	104	1	0	1	1	0	0	0	0	0	15042	179	7	0	970	0	SP140	2	231112711	In_Frame_Ins	INS	-	TCGA-IB-A5SS-01A-11D-A32N-08	12112321	231112711	12086662	12	30250											
GADL1	339896	broad.mit.edu	37	chr3	30875345	30875345	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accacaagaggaaaacttacAgatttgtctttcacaaggag	8	8	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:30875345A>T	ENST00000454381.3	-	11	1096	c.1050T>A	c.(1048-1050)tcT>tcA	p.S350S	GADL1_ENST00000282538.5_Splice_Site_p.S350S			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	350					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	GAAAACTTACAGATTTGTCTT	0.502													False	0	False	3:30875345	0	T	30875345	A	T	30875345	5	4	104	1	0	0	0	0	0	0	1	0	6227	202	7	5	535	5	GADL1	3	30875345	Splice_Site	SNP	A	TCGA-IB-A5SS-01A-11D-A32N-08		30875345	167147085	13	30251											
CNTN3	5067	broad.mit.edu	37	chr3	74351867	74351867	+	Nonsense_Mutation	SNP	G	G	T													ctatgaggtcagcagcagatGaaacactgtccacccccgtt							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:74351867G>T	ENST00000263665.6	-	13	1787	c.1760C>A	c.(1759-1761)tCa>tAa	p.S587*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	587	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGCAGCAGATGAAACACTGTC	0.418													False	0	True	3:74351867	0	T	74351867	G	T	74351867	4	4	104	1	0	0	0	0	0	1	0	0	3665	1294	45	3	1366	3	CNTN3	3	74351867	Nonsense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	43476522	74351867	123670563	14	30252	367	2									
CNTN3	5067	broad.mit.edu	37	chr3	74351868	74351868	+	Missense_Mutation	SNP	A	A	T													tatgaggtcagcagcagatgAaacactgtccacccccgttt							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:74351868A>T	ENST00000263665.6	-	13	1786	c.1759T>A	c.(1759-1761)Tca>Aca	p.S587T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	587	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCAGCAGATGAAACACTGTCC	0.418													False	0	True	3:74351868	0	T	74351868	A	T	74351868	3	4	104	1	0	0	0	0	1	0	0	0	3665	246	9	5	1367	5	CNTN3	3	74351868	Missense_Mutation	SNP	A	TCGA-IB-A5SS-01A-11D-A32N-08	1	74351868	123670562	15	30253	367	2									
SENP7	57337	broad.mit.edu	37	chr3	101231946	101231946	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctttctcaccggatgaagatGgccgtcgcccgagctttctc	10	14	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:101231946G>C	ENST00000394095.2	-	1	82	c.29C>G	c.(28-30)cCa>cGa	p.P10R	SENP7_ENST00000394094.2_Missense_Mutation_p.P10R|SENP7_ENST00000348610.3_5'UTR|SENP7_ENST00000394091.1_5'UTR|SENP7_ENST00000358203.3_5'UTR|SENP7_ENST00000314261.7_Missense_Mutation_p.P10R	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	10					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGATGAAGATGGCCGTCGCCC	0.617													False	0	False	3:101231946	0	C	101231946	G	C	101231946	3	2	104	1	0	0	0	0	1	0	0	0	14132	1348	47	5	3219	5	SENP7	3	101231946	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	26880078	101231946	96790484	16	30254											
CPNE4	131034	broad.mit.edu	37	chr3	131261421	131261421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttgaagttcctgaaggGcacgaactggacgatgtctc	13	8	1	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:131261421G>A	ENST00000512055.1	-	19	3645	c.1519C>T	c.(1519-1521)Ccc>Tcc	p.P507S	CPNE4_ENST00000429747.1_Missense_Mutation_p.P507S|CPNE4_ENST00000502818.1_Missense_Mutation_p.P525S|CPNE4_ENST00000511604.1_Missense_Mutation_p.P507S|CPNE4_ENST00000512332.1_Missense_Mutation_p.P525S			Q96A23	CPNE4_HUMAN	copine IV	507	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTCCTGAAGGGCACGAACTGG	0.502													False	0	True	3:131261421	0	A	131261421	G	A	131261421	3	1	104	1	0	0	0	0	1	0	0	0	3837	1203	42	2	162	2	CPNE4	3	131261421	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	30029475	131261421	66761009	17	30255											
PIK3CB	5291	broad.mit.edu	37	chr3	138382857	138382857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtaaattcctcaatggctCggtccaggtcatccctgaac	9	12	2	1	rs142933486	by1000genomes	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:138382857C>T	ENST00000477593.1	-	20	2760	c.2687G>A	c.(2686-2688)cGa>cAa	p.R896Q	PIK3CB_ENST00000544716.1_Missense_Mutation_p.R347Q|PIK3CB_ENST00000289153.2_Missense_Mutation_p.R896Q			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	896	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTCAATGGCTCGGTCCAGGTC	0.448													False	0	False	3:138382857	0	T	138382857	C	T	138382857	3	4	104	1	0	0	0	0	1	0	0	0	11983	884	31	1	539	1	PIK3CB	3	138382857	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	7121436	138382857	59639573	18	30256											
DVL3	1857	broad.mit.edu	37	chr3	183884692	183884692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcaccttccctgcatacgGcatgagcccctccctgagca	9	18	0	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:183884692G>A	ENST00000313143.3	+	11	1375	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	DVL3_ENST00000431765.1_Missense_Mutation_p.G359D|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	376					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTGCATACGGCATGAGCCCC	0.647													False	0	False	3:183884692	0	A	183884692	G	A	183884692	3	1	104	1	0	0	0	0	1	0	0	0	4867	1203	42	2	1169	2	DVL3	3	183884692	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	45501835	183884692	14137738	19	30257											
TBC1D1	23216	broad.mit.edu	37	chr4	38022213	38022213	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttctctccctttggcaggGcatcagacacgtggaccact	10	14	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr4:38022213G>A	ENST00000261439.4	+	5	1329	c.974G>A	c.(973-975)gGc>gAc	p.G325D	TBC1D1_ENST00000508802.1_Splice_Site_p.G325D	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	325	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTTTGGCAGGGCATCAGACAC	0.458													False	0	True	4:38022213	0	A	38022213	G	A	38022213	5	1	104	1	0	0	0	0	0	0	1	0	15679	1217	42	2	988	2	TBC1D1	4	38022213	Splice_Site	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		38022213	153132063	20	30258											
CTSO	1519	broad.mit.edu	37	chr4	156864418	156864419	+	Splice_Site	INS	-	-	GATTTTAATTTGCTTGCTTAACTTTTG													atgtctattaagactttcctINSagaagaaaaacaaaaactat							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr4:156864418_156864419insGATTTTAATTTGCTTGCTTAACTTTTG	ENST00000433477.3	-	2	205		c.e2-2			NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O						proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		AAGACTTTCCTAGAAGAAAAAC	0.302													False	0	False	4:156864418	0	GATTTTAATTTGCTTGCTTAACTTTTG	156864419	-	GATTTTAATTTGCTTGCTTAACTTTTG	156864418	8	5	104	1	0	1	1	0	0	0	1	0	4065	1536	53	0	859	0	CTSO	4	156864418	Splice_Site	INS	-	TCGA-IB-A5SS-01A-11D-A32N-08	118842205	156864418	34289858	21	30259											
SLC45A2	51151	broad.mit.edu	37	chr5	33984521	33984521	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acgctgagcaggactggggtCacatacgctgcctccaccgc	12	15	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:33984521C>G	ENST00000382102.3	-	1	225	c.168G>C	c.(166-168)gtG>gtC	p.V56V	SLC45A2_ENST00000342059.3_Silent_p.V56V|SLC45A2_ENST00000345083.5_Silent_p.V56V|SLC45A2_ENST00000296589.4_Silent_p.V56V|SLC45A2_ENST00000509381.1_Silent_p.V56V	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	56					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GGACTGGGGTCACATACGCTG	0.592													False	0	False	5:33984521	0	G	33984521	C	G	33984521	2	3	104	1	0	0	0	0	0	0	0	1	14721	813	29	5		5	SLC45A2	5	33984521	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		33984521	146930739	22	30260											
TMEM161B	153396	broad.mit.edu	37	chr5	87502295	87502295	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcaagaaactgcatcgcaCtgtctgaaaaatttgtaaac	6	8	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:87502295C>A	ENST00000296595.6	-	7	744	c.620G>T	c.(619-621)aGt>aTt	p.S207I	TMEM161B_ENST00000512429.1_Missense_Mutation_p.S196I|TMEM161B_ENST00000509387.1_Missense_Mutation_p.S80I|TMEM161B_ENST00000514135.1_Missense_Mutation_p.S207I|TMEM161B_ENST00000511218.1_Missense_Mutation_p.S25I|TMEM161B_ENST00000506536.1_Missense_Mutation_p.S25I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	207						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CTGCATCGCACTGTCTGAAAA	0.279													False	0	False	5:87502295	0	A	87502295	C	A	87502295	3	1	104	1	0	0	0	0	1	0	0	0	16159	565	20	3	867	3	TMEM161B	5	87502295	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	53517774	87502295	93412965	23	30261											
PCDHA4	0	broad.mit.edu	37	chr5	140188813	140188813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgccaaaggcctcctcaCgggcgttggtgggcgctgtg	17	12	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:140188813C>T	ENST00000530339.1	+	1	2041	c.2041C>T	c.(2041-2043)Cgg>Tgg	p.R681W	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R681W|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R681W	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCCTCACGGGCGTTGGT	0.632													False	0	True	5:140188813	0	T	140188813	C	T	140188813	3	4	104	1	0	0	0	0	1	0	0	0	11594	527	19	1	2043	1	PCDHA4	5	140188813	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	52686518	140188813	40726447	24	30262											
PCDH1	5097	broad.mit.edu	37	chr5	141243880	141243880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgttgctctcgatcaaaGctcaggctggataggatggt	12	8	3	0	rs149691852	by1000genomes	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:141243880G>A	ENST00000287008.3	-	3	2163	c.2016C>T	c.(2014-2016)agC>agT	p.S672S	PCDH1_ENST00000394536.3_Silent_p.S672S|PCDH1_ENST00000536585.1_Silent_p.S650S|PCDH1_ENST00000456271.1_Silent_p.S660S|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	672	Cadherin 6.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCGATCAAAGCTCAGGCTGG	0.552													False	0	True	5:141243880	0	A	141243880	G	A	141243880	2	1	104	1	0	0	0	0	0	0	0	1	11574	962	34	2		2	PCDH1	5	141243880	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	1055067	141243880	39671380	25	30263											
RASGEF1C	255426	broad.mit.edu	37	chr5	179538479	179538479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcactgaagatgggggcGgtgtacaggtagtgggtgat	17	6	1	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:179538479G>A	ENST00000393371.2	-	11	1577	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	RASGEF1C_ENST00000361132.4_Silent_p.T427T|RASGEF1C_ENST00000522500.1_Silent_p.T276T			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	427	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATGGGGGCGGTGTACAGGT	0.592													False	0	False	5:179538479	0	A	179538479	G	A	179538479	2	1	104	1	0	0	0	0	0	0	0	1	13150	1103	39	1		1	RASGEF1C	5	179538479	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	38294599	179538479	1376781	26	30264											
DSP	1832	broad.mit.edu	37	chr6	7562904	7562904	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcggagatggacatggtggCctggggtgtggacctggcct	20	8	0	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:7562904C>A	ENST00000379802.3	+	5	958	c.617C>A	c.(616-618)gCc>gAc	p.A206D	DSP_ENST00000418664.2_Missense_Mutation_p.A206D	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	206	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GACATGGTGGCCTGGGGTGTG	0.562													False	0	False	6:7562904	0	A	7562904	C	A	7562904	3	1	104	1	0	0	0	0	1	0	0	0	4811	739	26	3	635	3	DSP	6	7562904	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		7562904	163552163	27	30265											
TRIM10	10107	broad.mit.edu	37	chr6	30126398	30126398	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgttgtctcttggtggaCacctgagtctgagggggcag	15	9	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:30126398C>G	ENST00000449742.2	-	3	609	c.534G>C	c.(532-534)gtG>gtC	p.V178V	TRIM10_ENST00000376704.3_Silent_p.V178V	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	178						cytoplasm	zinc ion binding			ovary(1)	1						TCTTGGTGGACACCTGAGTCT	0.537													False	0	False	6:30126398	0	G	30126398	C	G	30126398	2	3	104	1	0	0	0	0	0	0	0	1	16569	465	17	5		5	TRIM10	6	30126398	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	22563494	30126398	140988669	28	30266											
KLC4	89953	broad.mit.edu	37	chr6	43039979	43039979	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctggaggaatgtgccctgCggtcccggagacaggtcaga	15	12	1	2	rs145201350	by1000genomes	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:43039979C>A	ENST00000394056.2	+	13	1969	c.1474C>A	c.(1474-1476)Cgg>Agg	p.R492R	KLC4_ENST00000479388.1_Silent_p.R492R|KLC4_ENST00000347162.5_Silent_p.R492R|KLC4_ENST00000259708.3_Silent_p.R510R|KLC4_ENST00000394058.1_Silent_p.R492R|KLC4_ENST00000453940.2_Silent_p.R415R			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	492						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			ATGTGCCCTGCGGTCCCGGAG	0.602													False	0	False	6:43039979	0	A	43039979	C	A	43039979	2	1	104	1	0	0	0	0	0	0	0	1	8386	759	27	3		3	KLC4	6	43039979	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	12913581	43039979	128075088	29	30267											
PDE10A	10846	broad.mit.edu	37	chr6	165806202	165806202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtgtgctacagtgaccGcatgcttccagttgtgataa	11	9	0	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:165806202G>A	ENST00000366882.1	-	17	1713	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	520					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.A520V(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TACAGTGACCGCATGCTTCCA	0.438													False	0	False	6:165806202	0	A	165806202	G	A	165806202	3	1	104	1	0	0	0	0	1	0	0	0	11698	1087	38	1	808	1	PDE10A	6	165806202	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	122766223	165806202	5308865	30	30268											
DNAH11	8701	broad.mit.edu	37	chr7	21657266	21657266	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactcaacaaggaagtccgCgtctgggatgcttacacggg	12	11	3	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:21657266C>A	ENST00000328843.6	+	23	4171	c.4140C>A	c.(4138-4140)cgC>cgA	p.R1380R	DNAH11_ENST00000409508.3_Silent_p.R1375R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1380	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGAAGTCCGCGTCTGGGATG	0.483									Kartagener syndrome				False	0	False	7:21657266	0	A	21657266	C	A	21657266	2	1	104	1	0	0	0	0	0	0	0	1	4629	755	27	3		3	DNAH11	7	21657266	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		21657266	137481397	31	30269											
NEUROD6	63974	broad.mit.edu	37	chr7	31377972	31377972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgggcaacctgaacatgGcaccctgcccaaggggaccc	13	15	0	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:31377972G>A	ENST00000297142.3	-	2	1233	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	304					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCTGAACATGGCACCCTGCCC	0.468													False	0	False	7:31377972	0	A	31377972	G	A	31377972	3	1	104	1	0	0	0	0	1	0	0	0	10419	1203	42	2	106	2	NEUROD6	7	31377972	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	9720706	31377972	127760691	32	30270											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	104	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-IB-A5SS-01A-11D-A32N-08	12775806	44153778	114984885	33	30271											
ZMIZ2	83637	broad.mit.edu	37	chr7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-													aagcggcagctgctgcagctGtggctgctgcggcagccact					rs142075074	by1000genomes	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678													False	1	False	7:44797065	0	-	44797109	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	44797065	7	5	104	1	0	1	0	1	0	0	0	0	17780	1377	48	0	471	0	ZMIZ2	7	44797065	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	TCGA-IB-A5SS-01A-11D-A32N-08	643287	44797065	114341598	34	30272											
ASL	435	broad.mit.edu	37	chr7	65557066	65557066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcctattacctggtccGcaaaggggtaagtgtgtagc	12	10	0	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:65557066G>A	ENST00000304874.9	+	15	1238	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	ASL_ENST00000464970.1_3'UTR|AC068533.7_ENST00000450043.1_Silent_p.P147P|ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000395331.3_Missense_Mutation_p.R359H|ASL_ENST00000380839.4_Missense_Mutation_p.R353H	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	379			R -> C (in ARGINSA; dbSNP:rs28940287).		arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	p.R379L(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TACCTGGTCCGCAAAGGGGTA	0.637													False	0	False	7:65557066	0	A	65557066	G	A	65557066	3	1	104	1	0	0	0	0	1	0	0	0	1048	1087	38	1	1190	1	ASL	7	65557066	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	20760001	65557066	93581597	35	30273											
SGCZ	137868	broad.mit.edu	37	chr8	13947958	13947958	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaaatcagtcacttcagctCcacaggcagatgttgctact	8	11	3	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr8:13947958C>T	ENST00000382080.1	-	8	1648	c.933G>A	c.(931-933)tgG>tgA	p.W311*	SGCZ_ENST00000421524.2_Nonsense_Mutation_p.W264*	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	298					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CACTTCAGCTCCACAGGCAGA	0.498													False	0	False	8:13947958	0	T	13947958	C	T	13947958	4	4	104	1	0	0	0	0	0	1	0	0	14285	856	30	2	9	2	SGCZ	8	13947958	Nonsense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		13947958	132416064	36	30274											
JPH1	56704	broad.mit.edu	37	chr8	75227310	75227310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgcctcttgttatttgCccactccccttcatacttca	3	16	3	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr8:75227310C>T	ENST00000342232.4	-	2	965	c.925G>A	c.(925-927)Gca>Aca	p.A309T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	309					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTGTTATTTGCCCACTCCCCT	0.502													False	0	True	8:75227310	0	T	75227310	C	T	75227310	3	4	104	1	0	0	0	0	1	0	0	0	8010	739	26	2	1076	2	JPH1	8	75227310	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	61279352	75227310	71136712	37	30275											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	10	17	2	1	rs121913387		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21971186	0	A	21971186	G	A	21971186	4	1	104	1	0	0	0	0	0	1	0	0	3184	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		21971186	119242245	38	30276											
SMU1	55234	broad.mit.edu	37	chr9	33068870	33068870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcaccacactgacttcGccagctaaggcctgggcaat	12	13	0	1	rs113018466	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													False	0	False	9:33068870	0	A	33068870	G	A	33068870	2	1	104	1	0	0	0	0	0	0	0	1	14897	1074	38	1		1	SMU1	9	33068870	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	11097684	33068870	108144561	39	30277											
RUSC2	9853	broad.mit.edu	37	chr9	35555589	35555589	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgactgagtaccggctccaTggaacaggaagcttgccgcc	12	12	0	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:35555589T>A	ENST00000455600.1	+	3	3116	c.2547T>A	c.(2545-2547)caT>caA	p.H849Q		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	849						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACCGGCTCCATGGAACAGGAA	0.647													False	0	False	9:35555589	0	A	35555589	T	A	35555589	3	1	104	1	0	0	0	0	1	0	0	0	13830	1461	51	5	2553	5	RUSC2	9	35555589	Missense_Mutation	SNP	T	TCGA-IB-A5SS-01A-11D-A32N-08	2486719	35555589	105657842	40	30278											
ZCCHC7	84186	broad.mit.edu	37	chr9	37349387	37349387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccaaaaagccgaagaccCcttcaagaccatcagcctta	5	16	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:37349387C>T	ENST00000336755.5	+	7	1127	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	ZCCHC7_ENST00000534928.1_Missense_Mutation_p.P51S|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	341							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GCCGAAGACCCCTTCAAGACC	0.418													False	0	True	9:37349387	0	T	37349387	C	T	37349387	3	4	104	1	0	0	0	0	1	0	0	0	17676	623	22	2	1043	2	ZCCHC7	9	37349387	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	1793798	37349387	103864044	41	30279											
CORO2A	7464	broad.mit.edu	37	chr9	100895363	100895363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaataacccgaatcttgCggtctttgcaggtggtggcc	13	10	3	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:100895363C>T	ENST00000343933.5	-	5	862	c.605G>A	c.(604-606)cGc>cAc	p.R202H	CORO2A_ENST00000375077.4_Missense_Mutation_p.R202H	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	202					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CCGAATCTTGCGGTCTTTGCA	0.582													False	0	False	9:100895363	0	T	100895363	C	T	100895363	3	4	104	1	0	0	0	0	1	0	0	0	3779	768	27	1	1004	1	CORO2A	9	100895363	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	63545976	100895363	40318068	42	30280											
HSPA5	3309	broad.mit.edu	37	chr9	128000914	128000914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcctggacagcagcacCatacgctacagcttcatctg	8	15	2	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:128000914C>T	ENST00000324460.6	-	6	1392	c.1189G>A	c.(1189-1191)Ggt>Agt	p.G397S		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	397					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	ACAGCAGCACCATACGCTACA	0.478										Prostate(1;0.17)			False	0	False	9:128000914	0	T	128000914	C	T	128000914	3	4	104	1	0	0	0	0	1	0	0	0	7463	594	21	2	787	2	HSPA5	9	128000914	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	27105551	128000914	13212517	43	30281											
C9orf106	414318	broad.mit.edu	37	chr9	132084600	132084600	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacattcgcttggctctgccCtcagagcactgatgcccggg	12	14	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:132084600C>A	ENST00000316786.1	+	0	561							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				TGGCTCTGCCCTCAGAGCACT	0.612													False	0	True	9:132084600	0	A	132084600	C	A	132084600	1	1	104	0	1	0	0	0	0	0	0	0	2467	681	24	3		3	C9orf106	9	132084600	RNA	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	4083686	132084600	9128831	44	30282											
LCN9	392399	broad.mit.edu	37	chr9	138557549	138557549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagatttgaagaaacctgCgaaaagtacggacttggctc	11	8	0	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:138557549C>T	ENST00000277526.3	+	5	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	142						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AAGAAACCTGCGAAAAGTACG	0.572													False	0	False	9:138557549	0	T	138557549	C	T	138557549	2	4	104	1	0	0	0	0	0	0	0	1	8738	776	27	1		1	LCN9	9	138557549	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	6472949	138557549	2655882	45	30283											
SNAPC4	6621	broad.mit.edu	37	chr9	139272186	139272186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgccaggaaccgcgcccGcaacaggaggtaggccgggt	17	13	0	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:139272186G>A	ENST00000298532.2	-	21	4461	c.4093C>T	c.(4093-4095)Cgg>Tgg	p.R1365W		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	1365	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AACCGCGCCCGCAACAGGAGG	0.726													False	0	True	9:139272186	0	A	139272186	G	A	139272186	3	1	104	1	0	0	0	0	1	0	0	0	14917	1086	38	1	324	1	SNAPC4	9	139272186	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	714637	139272186	1941245	46	30284											
APBB1IP	54518	broad.mit.edu	37	chr10	26785284	26785284	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accctaatccacccagagctGaatttaactacagtgtgggg	9	11	0	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:26785284G>C	ENST00000376236.4	+	4	579	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q	APBB1IP_ENST00000356785.4_Missense_Mutation_p.E42Q	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	42					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ACCCAGAGCTGAATTTAACTA	0.348													False	0	False	10:26785284	0	C	26785284	G	C	26785284	3	2	104	1	0	0	0	0	1	0	0	0	762	1291	45	5	130	5	APBB1IP	10	26785284	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		26785284	108749463	47	30285											
AGAP6	414189	broad.mit.edu	37	chr10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttgtagaaataagaagaaGcaactgtacaaaccatgtaa	8	5	0	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269													False	0	True	10:51754173	0	T	51754173	G	T	51754173	3	4	104	1	0	0	0	0	1	0	0	0	372	971	34	3	394	3	AGAP6	10	51754173	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	24968889	51754173	83780574	48	30286											
LRIT1	26103	broad.mit.edu	37	chr10	85991943	85991943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgagaggcagggcaatgaCgatggccacactgatcacca	13	11	1	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:85991943C>T	ENST00000372105.3	-	4	1633	c.1612G>A	c.(1612-1614)Gtc>Atc	p.V538I		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	538						integral to endoplasmic reticulum membrane		p.V538I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGGGCAATGACGATGGCCACA	0.532													False	0	False	10:85991943	0	T	85991943	C	T	85991943	3	4	104	1	0	0	0	0	1	0	0	0	9009	536	19	1	263	1	LRIT1	10	85991943	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	34237770	85991943	49542804	49	30287											
GRID1	2894	broad.mit.edu	37	chr10	87407024	87407024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgttcttgctgatggtccGccagagttcagcaaacgtgc	11	12	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:87407024G>A	ENST00000327946.7	-	13	2213	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.R281W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	710						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGATGGTCCGCCAGAGTTCA	0.572										Multiple Myeloma(13;0.14)			False	0	False	10:87407024	0	A	87407024	G	A	87407024	3	1	104	1	0	0	0	0	1	0	0	0	6818	1086	38	1	917	1	GRID1	10	87407024	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	1415081	87407024	48127723	50	30288											
SLIT1	6585	broad.mit.edu	37	chr10	98816094	98816094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagagtctggatggcccGcagggaggtgaaagtgccct	15	10	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:98816094G>A	ENST00000266058.4	-	13	1530	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R429W	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	429					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGATGGCCCGCAGGGAGGTG	0.622													False	0	True	10:98816094	0	A	98816094	G	A	98816094	3	1	104	1	0	0	0	0	1	0	0	0	14819	1086	38	1	3419	1	SLIT1	10	98816094	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	11409070	98816094	36718653	51	30289											
PYROXD2	84795	broad.mit.edu	37	chr10	100155147	100155147	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggctggggaaccactcaCcttggtaatgggagctgtga	15	8	1	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:100155147C>A	ENST00000370575.4	-	7	736		c.e7+1		PYROXD2_ENST00000483923.1_Splice_Site	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2								oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GAACCACTCACCTTGGTAATG	0.577													False	0	False	10:100155147	0	A	100155147	C	A	100155147	5	1	104	1	0	0	0	0	0	0	1	0	12946	521	18	3	1097	3	PYROXD2	10	100155147	Splice_Site	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	1339053	100155147	35379600	52	30290											
ZRANB1	54764	broad.mit.edu	37	chr10	126660618	126660619	+	Frame_Shift_Ins	INS	-	-	ATCTCATGTATCATAAGTGGAAGCAGAAAACAACAGTA													gagagagatagctgcctctcINSttcatcagagaaagggggat							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:126660618_126660619insATCTCATGTATCATAAGTGGAAGCAGAAAACAACAGTA	ENST00000359653.4	+	3	1458_1459	c.1087_1088insATCTCATGTATCATAAGTGGAAGCAGAAAACAACAGTA	c.(1087-1089)cttfs	p.L363fs		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	363					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AGCTGCCTCTCTTCATCAGAGA	0.401													False	0	True	10:126660618	0	ATCTCATGTATCATAAGTGGAAGCAGAAAACAACAGTA	126660619	-	ATCTCATGTATCATAAGTGGAAGCAGAAAACAACAGTA	126660618	7	5	104	1	0	1	1	0	0	0	0	0	18304	913	32	0	1097	0	ZRANB1	10	126660618	Frame_Shift_Ins	INS	-	TCGA-IB-A5SS-01A-11D-A32N-08	26505471	126660618	8874129	53	30291											
OR51B4	79339	broad.mit.edu	37	chr11	5322681	5322682	+	Frame_Shift_Ins	INS	-	-	TATATCCAATTATTCAGACTTCTTTGACTGTCTTTTTAGATGCTCT													aagagggcacgggaaccacaINSatatgggtagcagtagagtg							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:5322681_5322682insTATATCCAATTATTCAGACTTCTTTGACTGTCTTTTTAGATGCTCT	ENST00000380224.1	-	1	544_545	c.495_496insAGAGCATCTAAAAAGACAGTCAAAGAAGTCTGAATAATTGGATATA	c.(493-498)tattgtfs	p.C166fs	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGGAACCACAATATGGGTAGC	0.416													False	0	False	11:5322681	0	TATATCCAATTATTCAGACTTCTTTGACTGTCTTTTTAGATGCTCT	5322682	-	TATATCCAATTATTCAGACTTCTTTGACTGTCTTTTTAGATGCTCT	5322681	7	5	104	1	0	1	1	0	0	0	0	0	11158	130	5	0	439	0	OR51B4	11	5322681	Frame_Shift_Ins	INS	-	TCGA-IB-A5SS-01A-11D-A32N-08		5322681	129683835	54	30292											
ZNF143	7702	broad.mit.edu	37	chr11	9519322	9519322	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaacttcaggagatctAcagaaacacatcagaactca	5	10	5	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:9519322A>T	ENST00000396602.2	+	10	1061	c.942A>T	c.(940-942)ctA>ctT	p.L314L	ZNF143_ENST00000530463.1_Silent_p.L313L|ZNF143_ENST00000396597.3_Silent_p.L283L|ZNF143_ENST00000396604.1_Silent_p.L313L|ZNF143_ENST00000299606.2_Silent_p.L286L	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	314					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CAGGAGATCTACAGAAACACA	0.368													False	0	False	11:9519322	0	T	9519322	A	T	9519322	2	4	104	1	0	0	0	0	0	0	0	1	17815	378	14	5		5	ZNF143	11	9519322	Silent	SNP	A	TCGA-IB-A5SS-01A-11D-A32N-08	4196641	9519322	125487194	55	30293											
KCNC1	3746	broad.mit.edu	37	chr11	17757790	17757790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagctgcactgcccagccGacgtgtgcgggccgctctac	13	16	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:17757790G>A	ENST00000379472.3	+	1	271	c.241G>A	c.(241-243)Gac>Aac	p.D81N	KCNC1_ENST00000265969.6_Missense_Mutation_p.D81N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	81						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGCCCAGCCGACGTGTGCGG	0.662													False	0	False	11:17757790	0	A	17757790	G	A	17757790	3	1	104	1	0	0	0	0	1	0	0	0	8064	1058	37	1	243	1	KCNC1	11	17757790	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	8238468	17757790	117248726	56	30294											
KIF18A	81930	broad.mit.edu	37	chr11	28080600	28080600	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accacttttttcctctctacCaaatgttcgatctctttgaa	3	12	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:28080600C>G	ENST00000263181.6	-	13	2111	c.1821G>C	c.(1819-1821)ttG>ttC	p.L607F		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	607					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TCCTCTCTACCAAATGTTCGA	0.408													False	0	True	11:28080600	0	G	28080600	C	G	28080600	3	3	104	1	0	0	0	0	1	0	0	0	8330	593	21	5	895	5	KIF18A	11	28080600	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	10322810	28080600	106925916	57	30295											
SORL1	6653	broad.mit.edu	37	chr11	121428026	121428026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgtttttgtcaggtaGctaatccagatggcgacttc	9	12	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:121428026G>A	ENST00000260197.7	+	19	2704	c.2575G>A	c.(2575-2577)Gct>Act	p.A859T		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	859					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTGTCAGGTAGCTAATCCAGA	0.532													False	0	False	11:121428026	0	A	121428026	G	A	121428026	3	1	104	1	0	0	0	0	1	0	0	0	15014	971	34	2	2649	2	SORL1	11	121428026	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	93347426	121428026	13578490	58	30296											
WNK1	65125	broad.mit.edu	37	chr12	977171	977171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagccatttcccagcggcGtaagagcacctccttcctgg	10	14	0	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:977171G>A	ENST00000537687.1	+	9	2922	c.2279G>A	c.(2278-2280)cGt>cAt	p.R760H	WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.R59H|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.R845H|WNK1_ENST00000535572.1_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	763					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCCAGCGGCGTAAGAGCACC	0.517													False	0	False	12:977171	0	A	977171	G	A	977171	3	1	104	1	0	0	0	0	1	0	0	0	17461	1145	40	1	2572	1	WNK1	12	977171	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		977171	132874724	59	30297											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	104	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	24421113	25398284	108453611	60	30298											
KRT5	3852	broad.mit.edu	37	chr12	52910448	52910448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgccctccagcagcttgCggtaagtggcgatctccacg	11	16	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:52910448C>T	ENST00000252242.4	-	7	1802	c.1412G>A	c.(1411-1413)cGc>cAc	p.R471H		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	471	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCAGCTTGCGGTAAGTGGC	0.582													False	0	False	12:52910448	0	T	52910448	C	T	52910448	3	4	104	1	0	0	0	0	1	0	0	0	8529	768	27	1	372	1	KRT5	12	52910448	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	27512164	52910448	80941447	61	30299											
TARBP2	6895	broad.mit.edu	37	chr12	53895234	53895234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggcactaccacgggctgCgggctgcctaggtgagccgt	15	14	0	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:53895234C>T	ENST00000266987.2	+	1	525	c.42C>T	c.(40-42)tgC>tgT	p.C14C	TARBP2_ENST00000552857.1_Silent_p.C14C|TARBP2_ENST00000456234.2_Intron	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	14					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						CCACGGGCTGCGGGCTGCCTA	0.687													False	0	True	12:53895234	0	T	53895234	C	T	53895234	2	4	104	1	0	0	0	0	0	0	0	1	15638	776	27	1		1	TARBP2	12	53895234	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	984786	53895234	79956661	62	30300											
NOS1	4842	broad.mit.edu	37	chr12	117662845	117662845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttggatatcaaattgccGctgttgccagaagcttcgga	12	8	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:117662845G>A	ENST00000317775.6	-	25	4487	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R1302W	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1268					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCAAATTGCCGCTGTTGCCAG	0.612													False	0	False	12:117662845	0	A	117662845	G	A	117662845	3	1	104	1	0	0	0	0	1	0	0	0	10609	1086	38	1	522	1	NOS1	12	117662845	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	63767611	117662845	16189050	63	30301											
CDH24	64403	broad.mit.edu	37	chr14	23517662	23517662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcttgcttctgccgccGcagggccacgaagagcacca	11	15	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr14:23517662G>A	ENST00000397359.3	-	13	2246	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	CDH24_ENST00000554034.1_Missense_Mutation_p.R625W|CDH24_ENST00000487137.2_Missense_Mutation_p.R625W|CDH24_ENST00000267383.5_Missense_Mutation_p.R663W|CDH24_ENST00000485922.1_5'UTR	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	663					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TTCTGCCGCCGCAGGGCCACG	0.672													False	0	False	14:23517662	0	A	23517662	G	A	23517662	3	1	104	1	0	0	0	0	1	0	0	0	3132	1086	38	1	476	1	CDH24	14	23517662	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		23517662	83831878	64	30302											
DHRS2	10202	broad.mit.edu	37	chr14	24114078	24114078	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaagaacttcaaggaacatCatcagctgcagaggcaagtg	12	8	3	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr14:24114078C>A	ENST00000250383.6	+	8	1194	c.718C>A	c.(718-720)Cat>Aat	p.H240N	DHRS2_ENST00000344777.7_Silent_p.I243I	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	218					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CAAGGAACATCATCAGCTGCA	0.512													False	0	False	14:24114078	0	A	24114078	C	A	24114078	3	1	104	1	0	0	0	0	1	0	0	0	4520	826	29	3	755	3	DHRS2	14	24114078	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	596416	24114078	83235462	65	30303											
UBE3A	7337	broad.mit.edu	37	chr15	25616639	25616639	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcaatatccacagacacatCatcagggcctaatttttgca	5	11	3	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:25616639C>T	ENST00000232165.3	-	6	1338	c.682G>A	c.(682-684)Gat>Aat	p.D228N	UBE3A_ENST00000438097.1_Missense_Mutation_p.D208N|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.D231N|UBE3A_ENST00000428984.2_Missense_Mutation_p.D208N|UBE3A_ENST00000566215.1_Missense_Mutation_p.D208N	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	231					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ACAGACACATCATCAGGGCCT	0.408													False	0	False	15:25616639	0	T	25616639	C	T	25616639	3	4	104	1	0	0	0	0	1	0	0	0	16963	826	29	2	1968	2	UBE3A	15	25616639	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		25616639	76914753	66	30304											
RYR3	6263	broad.mit.edu	37	chr15	33928625	33928626	+	Frame_Shift_Ins	INS	-	-	TGGAGAAATGA													ttttgggcgtacctggcagcINScaggggatgtggtcggatgt							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:33928625_33928626insTGGAGAAATGA	ENST00000389232.4	+	27	3500_3501	c.3430_3431insTGGAGAAATGA	c.(3430-3432)ccafs	p.P1144fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.P1144fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1144	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TACCTGGCAGCCAGGGGATGTG	0.51													False	0	False	15:33928625	0	TGGAGAAATGA	33928626	-	TGGAGAAATGA	33928625	7	5	104	1	0	1	1	0	0	0	0	0	13849	739	26	0	3536	0	RYR3	15	33928625	Frame_Shift_Ins	INS	-	TCGA-IB-A5SS-01A-11D-A32N-08	8311986	33928625	68602767	67	30305	368	2									
RYR3	6263	broad.mit.edu	37	chr15	33928626	33928627	+	Frame_Shift_Ins	INS	-	-	CATATCTTCGATATCTCCTAACTAGT													tttgggcgtacctggcagccINSaggggatgtggtcggatgta							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:33928626_33928627insCATATCTTCGATATCTCCTAACTAGT	ENST00000389232.4	+	27	3501_3502	c.3431_3432insCATATCTTCGATATCTCCTAACTAGT	c.(3430-3435)ccagggfs	p.G1145fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G1145fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1145	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCTGGCAGCCAGGGGATGTGG	0.505													False	0	True	15:33928626	0	CATATCTTCGATATCTCCTAACTAGT	33928627	-	CATATCTTCGATATCTCCTAACTAGT	33928626	7	5	104	1	0	1	1	0	0	0	0	0	13849	594	21	0	3537	0	RYR3	15	33928626	Frame_Shift_Ins	INS	-	TCGA-IB-A5SS-01A-11D-A32N-08	1	33928626	68602766	68	30306	368	2									
NARG2	79664	broad.mit.edu	37	chr15	60747571	60747571	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgtttcaatggtagctAtatcgtcctttgacagctgc	9	10	1	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:60747571A>G	ENST00000261520.4	-	7	971	c.737T>C	c.(736-738)aTa>aCa	p.I246T	NARG2_ENST00000561114.1_Missense_Mutation_p.I246T|NARG2_ENST00000439632.1_Missense_Mutation_p.I109T	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	246						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AATGGTAGCTATATCGTCCTT	0.333													False	0	False	15:60747571	0	G	60747571	A	G	60747571	3	3	104	1	0	0	0	0	1	0	0	0	10236	449	16	4	2251	4	NARG2	15	60747571	Missense_Mutation	SNP	A	TCGA-IB-A5SS-01A-11D-A32N-08	26818945	60747571	41783821	69	30307											
ADAMTS17	170691	broad.mit.edu	37	chr15	100636613	100636613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagtggcaggtcttgccGtccccgctgcagaccccgca	11	17	1	1	rs141443664		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:100636613G>A	ENST00000268070.4	-	15	2190	c.2085C>T	c.(2083-2085)gaC>gaT	p.D695D		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	695	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGGTCTTGCCGTCCCCGCTGC	0.592													False	0	False	15:100636613	0	A	100636613	G	A	100636613	2	1	104	1	0	0	0	0	0	0	0	1	262	1136	40	1		1	ADAMTS17	15	100636613	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	39889042	100636613	1894779	70	30308											
NHLRC4	283948	broad.mit.edu	37	chr16	618370	618370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcctggtggctgatgCcaaggacaactccatcaagg	11	13	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:618370C>A	ENST00000424439.2	+	2	980	c.323C>A	c.(322-324)gCc>gAc	p.A108D	NHLRC4_ENST00000540585.1_Missense_Mutation_p.A108D|PIGQ_ENST00000409527.2_Intron			P0CG21	NHLC4_HUMAN	NHL repeat containing 4	108																	GTGGCTGATGCCAAGGACAAC	0.667													False	0	False	16:618370	0	A	618370	C	A	618370	3	1	104	1	0	0	0	0	1	0	0	0	10476	739	26	3	325	3	NHLRC4	16	618370	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		618370	89736383	71	30309											
TSC2	7249	broad.mit.edu	37	chr16	2136297	2136297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagctgaaggactgccagcCggacaaggtgtacctgggag	16	10	0	1	rs137854039		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:2136297C>T	ENST00000219476.3	+	37	5396	c.4766C>T	c.(4765-4767)cCg>cTg	p.P1589L	TSC2_ENST00000382538.6_Missense_Mutation_p.P1474L|TSC2_ENST00000353929.4_Missense_Mutation_p.P1546L|TSC2_ENST00000439673.2_Missense_Mutation_p.P1486L|TSC2_ENST00000401874.2_Missense_Mutation_p.P1522L|TSC2_ENST00000350773.4_Missense_Mutation_p.P1566L|TSC2_ENST00000568454.1_Missense_Mutation_p.P1533L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1589	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GACTGCCAGCCGGACAAGGTG	0.617			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				False	0	False	16:2136297	0	T	2136297	C	T	2136297	3	4	104	1	0	0	0	0	1	0	0	0	16689	652	23	1	4908	1	TSC2	16	2136297	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	1517927	2136297	88218456	72	30310											
SCNN1G	6340	broad.mit.edu	37	chr16	23226527	23226527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcttctctatcattgccCgccgccagtggcagaaagcc	8	15	3	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:23226527C>T	ENST00000300061.2	+	13	1830	c.1687C>T	c.(1687-1689)Cgc>Tgc	p.R563C		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	563					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TATCATTGCCCGCCGCCAGTG	0.587													False	0	True	16:23226527	0	T	23226527	C	T	23226527	3	4	104	1	0	0	0	0	1	0	0	0	14011	652	23	1	1733	1	SCNN1G	16	23226527	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	21090230	23226527	67128226	73	30311											
ATXN2L	11273	broad.mit.edu	37	chr16	28844418	28844418	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaacagcctggatccTtttcctccccggatcttaaa	7	14	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:28844418T>C	ENST00000336783.4	+	14	1865	c.1698T>C	c.(1696-1698)ccT>ccC	p.P566P	ATXN2L_ENST00000325215.6_Silent_p.P566P|ATXN2L_ENST00000382686.4_Silent_p.P566P|ATXN2L_ENST00000570200.1_Silent_p.P566P|ATXN2L_ENST00000395547.2_Silent_p.P566P|ATXN2L_ENST00000564304.1_Silent_p.P572P|ATXN2L_ENST00000340394.8_Silent_p.P566P|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	566						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCCTGGATCCTTTTCCTCCCC	0.532													False	0	True	16:28844418	0	C	28844418	T	C	28844418	2	2	104	1	0	0	0	0	0	0	0	1	1216	1596	56	4		4	ATXN2L	16	28844418	Silent	SNP	T	TCGA-IB-A5SS-01A-11D-A32N-08	5617891	28844418	61510335	74	30312											
SEPHS2	22928	broad.mit.edu	37	chr16	30456111	30456111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgtgatatctgtggccGcatgggcattaaatgtgtgc	13	8	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:30456111G>A	ENST00000478753.2	-	1	1391	c.938C>T	c.(937-939)gCg>gTg	p.A313V	SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V|SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	313					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ATCTGTGGCCGCATGGGCATT	0.448													False	0	False	16:30456111	0	A	30456111	G	A	30456111	3	1	104	1	0	0	0	0	1	0	0	0	14136	1087	38	1	412	1	SEPHS2	16	30456111	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	1611693	30456111	59898642	75	30313											
SRCAP	10847	broad.mit.edu	37	chr16	30715613	30715613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgggagaagagccatgccGaaattgcagaacaggccaag	14	8	0	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:30715613G>A	ENST00000262518.4	+	4	668	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	SRCAP_ENST00000344771.4_Missense_Mutation_p.E95K|SRCAP_ENST00000395059.2_Missense_Mutation_p.E95K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	95					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAGCCATGCCGAAATTGCAGA	0.522													False	0	True	16:30715613	0	A	30715613	G	A	30715613	3	1	104	1	0	0	0	0	1	0	0	0	15217	1059	37	1	289	1	SRCAP	16	30715613	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	259502	30715613	59639140	76	30314											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	9	16	3	0	rs28934574		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			False	0	False	17:7577094	0	A	7577094	G	A	7577094	3	1	104	1	0	0	0	0	1	0	0	0	16464	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		7577094	73618116	77	30315											
KDM6B	23135	broad.mit.edu	37	chr17	7752044	7752044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttggcctccgtgctggaggGacaaaagtactgttatcggg	14	9	0	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:7752044G>A	ENST00000254846.5	+	11	2827	c.2438G>A	c.(2437-2439)gGa>gAa	p.G813E	KDM6B_ENST00000448097.2_Missense_Mutation_p.G813E	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	813	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GTGCTGGAGGGACAAAAGTAC	0.647													False	0	True	17:7752044	0	A	7752044	G	A	7752044	3	1	104	1	0	0	0	0	1	0	0	0	8188	1174	41	2	2468	2	KDM6B	17	7752044	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	174950	7752044	73443166	78	30316											
HAP1	9001	broad.mit.edu	37	chr17	39881075	39881075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggcatcttgccagttggCcagctgctggaggacataat	13	9	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:39881075C>T	ENST00000393939.2	-	10	1672	c.1663G>A	c.(1663-1665)Gcc>Acc	p.A555T	HAP1_ENST00000310778.5_Missense_Mutation_p.A632T|HAP1_ENST00000347901.4_Missense_Mutation_p.A580T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.A563T			P54257	HAP1_HUMAN	huntingtin-associated protein 1	632	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGCCAGTTGGCCAGCTGCTGG	0.627													False	0	False	17:39881075	0	T	39881075	C	T	39881075	3	4	104	1	0	0	0	0	1	0	0	0	7000	739	26	2	125	2	HAP1	17	39881075	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	32129031	39881075	41314135	79	30317											
CCR10	2826	broad.mit.edu	37	chr17	40832279	40832279	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atacaggccaggaagaggaaGccggcgtggaaggaggccga	18	8	0	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:40832279G>C	ENST00000332438.4	-	2	400	c.381C>G	c.(379-381)ggC>ggG	p.G127G	CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'UTR	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	127						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGAAGAGGAAGCCGGCGTGGA	0.706													False	0	False	17:40832279	0	C	40832279	G	C	40832279	2	2	104	1	0	0	0	0	0	0	0	1	2963	958	34	5		5	CCR10	17	40832279	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	951204	40832279	40362931	80	30318											
ARMC7	79637	broad.mit.edu	37	chr17	73125037	73125037	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagatcttcctggaggacttCtgctccccccgccaggtggc	11	16	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:73125037C>A	ENST00000245543.1	+	3	803	c.501C>A	c.(499-501)ttC>ttA	p.F167L	ARMC7_ENST00000581078.1_3'UTR|ARMC7_ENST00000579096.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	167							binding	p.F167F(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			TGGAGGACTTCTGCTCCCCCC	0.701													False	0	False	17:73125037	0	A	73125037	C	A	73125037	3	1	104	1	0	0	0	0	1	0	0	0	960	912	32	3	511	3	ARMC7	17	73125037	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	32292758	73125037	8070173	81	30319											
RNF213	57674	broad.mit.edu	37	chr17	78317808	78317808	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtgccgtcgaggagctcttCagcgctggtctgtactgtgg	15	10	3	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:78317808C>A	ENST00000582970.1	+	28	6478	c.6335C>A	c.(6334-6336)tCa>tAa	p.S2112*	RNF213_ENST00000508628.2_Nonsense_Mutation_p.S2161*|RNF213_ENST00000336301.6_Nonsense_Mutation_p.S185*	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGAGCTCTTCAGCGCTGGTC	0.522													False	0	False	17:78317808	0	A	78317808	C	A	78317808	4	1	104	1	0	0	0	0	0	1	0	0	13556	838	29	3	6760	3	RNF213	17	78317808	Nonsense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	5192771	78317808	2877402	82	30320											
MC5R	4161	broad.mit.edu	37	chr18	13826098	13826098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatagcagacgcctttgtgCgccacattgacaatgtgttt	10	9	0	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr18:13826098C>T	ENST00000324750.3	+	1	556	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	112					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CGCCTTTGTGCGCCACATTGA	0.522													False	0	False	18:13826098	0	T	13826098	C	T	13826098	3	4	104	1	0	0	0	0	1	0	0	0	9434	768	27	1	336	1	MC5R	18	13826098	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		13826098	64251150	83	30321											
DSG2	1829	broad.mit.edu	37	chr18	29111024	29111024	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaagcagcttttcacaagtcGattaggagtaaatacaagcc	8	8	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr18:29111024G>T	ENST00000261590.8	+	9	1298	c.1089G>T	c.(1087-1089)tcG>tcT	p.S363S		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	363	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTCACAAGTCGATTAGGAGTA	0.363													False	0	False	18:29111024	0	T	29111024	G	T	29111024	2	4	104	1	0	0	0	0	0	0	0	1	4807	1045	37	3		3	DSG2	18	29111024	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	15284926	29111024	48966224	84	30322											
OR2Z1	284383	broad.mit.edu	37	chr19	8841649	8841649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggcatcagactttctgCggggagaaggtgccacctcc	13	11	2	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:8841649C>T	ENST00000324060.2	+	1	334	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGACTTTCTGCGGGGAGAAGG	0.552													False	0	True	19:8841649	0	T	8841649	C	T	8841649	3	4	104	1	0	0	0	0	1	0	0	0	11104	759	27	1	261	1	OR2Z1	19	8841649	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		8841649	50287334	85	30323											
LSR	51599	broad.mit.edu	37	chr19	35753550	35753550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacacttgctgctgctacGtcaggtgcccctgctgccca	10	17	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:35753550G>A	ENST00000602122.1	+	4	1307	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	LSR_ENST00000354900.3_Missense_Mutation_p.V274I|LSR_ENST00000360798.3_Intron|LSR_ENST00000347609.4_Missense_Mutation_p.V256I|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000361790.3_Missense_Mutation_p.V293I|LSR_ENST00000427250.1_Intron			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	293					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGCTGCTACGTCAGGTGCCC	0.627													False	0	False	19:35753550	0	A	35753550	G	A	35753550	3	1	104	1	0	0	0	0	1	0	0	0	9126	1145	40	1	895	1	LSR	19	35753550	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	26911901	35753550	23375433	86	30324											
ZNF780A	284323	broad.mit.edu	37	chr19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacattcatatggttttaCaccagaatgaatactctgat	5	8	2	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:40581529C>T	ENST00000450241.2	-	6	1029	c.718G>A	c.(718-720)Gta>Ata	p.V240I	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I			O75290	Z780A_HUMAN	zinc finger protein 780A	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTACACCAGAATGA	0.388													False	0	False	19:40581529	0	T	40581529	C	T	40581529	3	4	104	1	0	0	0	0	1	0	0	0	18234	478	17	2	1236	2	ZNF780A	19	40581529	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	4827979	40581529	18547454	87	30325											
SHKBP1	92799	broad.mit.edu	37	chr19	41083342	41083342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacgctgaaagatgagaccGgagcagtgagtcggacaaga	15	8	0	5			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:41083342G>A	ENST00000291842.5	+	3	230	c.181G>A	c.(181-183)Gga>Aga	p.G61R	SHKBP1_ENST00000600733.1_Missense_Mutation_p.G61R	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	61	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGATGAGACCGGAGCAGTGAG	0.607													False	0	False	19:41083342	0	A	41083342	G	A	41083342	3	1	104	1	0	0	0	0	1	0	0	0	14365	1117	39	1	191	1	SHKBP1	19	41083342	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	501813	41083342	18045641	88	30326											
LTBP4	8425	broad.mit.edu	37	chr19	41123123	41123123	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggcacgggatgggcgtcaCtgcgtgggtacgggacttca	19	9	2	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:41123123C>G	ENST00000308370.7	+	25	3261	c.3261C>G	c.(3259-3261)caC>caG	p.H1087Q	LTBP4_ENST00000204005.9_Missense_Mutation_p.H1050Q|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.H1020Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.H141Q|LTBP4_ENST00000545697.1_Intron	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1088	Cys-rich.|EGF-like 12; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGGGCGTCACTGCGTGGGTA	0.622													False	0	False	19:41123123	0	G	41123123	C	G	41123123	3	3	104	1	0	0	0	0	1	0	0	0	9138	565	20	5	3650	5	LTBP4	19	41123123	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	39781	41123123	18005860	89	30327											
CCDC9	26093	broad.mit.edu	37	chr19	47774764	47774764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccccttcagtccggaggaGcccctgctggagccccaggc	13	17	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:47774764G>T	ENST00000221922.6	+	12	1647	c.1425G>T	c.(1423-1425)gaG>gaT	p.E475D		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	475										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GTCCGGAGGAGCCCCTGCTGG	0.677													False	0	True	19:47774764	0	T	47774764	G	T	47774764	3	4	104	1	0	0	0	0	1	0	0	0	2888	962	34	3	1467	3	CCDC9	19	47774764	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	6651641	47774764	11354219	90	30328											
NUP62	23636	broad.mit.edu	37	chr19	50412865	50412865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgtcgtctgtgtggccGgagtctgggtggcaagtgag	18	8	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:50412865G>A	ENST00000596217.1	-	2	2087	c.200C>T	c.(199-201)cCg>cTg	p.P67L	NUP62_ENST00000413454.1_Missense_Mutation_p.P67L|NUP62_ENST00000597723.1_Missense_Mutation_p.P67L|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.P67L|NUP62_ENST00000352066.3_Missense_Mutation_p.P67L|NUP62_ENST00000422090.2_Missense_Mutation_p.P67L|IL4I1_ENST00000341114.3_Intron|CTC-326K19.6_ENST00000451973.1_3'UTR			P37198	NUP62_HUMAN	nucleoporin 62kDa	67	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTGTGTGGCCGGAGTCTGGGT	0.552													False	0	False	19:50412865	0	A	50412865	G	A	50412865	3	1	104	1	0	0	0	0	1	0	0	0	10836	1116	39	1	1372	1	NUP62	19	50412865	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	2638101	50412865	8716118	91	30329											
KLK13	26085	broad.mit.edu	37	chr19	51561826	51561826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgccaccctcttttgtgCcggcacacaacatgttgtca	7	14	2	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:51561826C>T	ENST00000595793.1	-	4	656	c.614G>A	c.(613-615)gGc>gAc	p.G205D	KLK13_ENST00000335422.3_Missense_Mutation_p.G53D|KLK13_ENST00000595547.1_Missense_Mutation_p.G132D	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	205	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		CTCTTTTGTGCCGGCACACAA	0.527													False	0	False	19:51561826	0	T	51561826	C	T	51561826	3	4	104	1	0	0	0	0	1	0	0	0	8451	739	26	2	227	2	KLK13	19	51561826	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	1148961	51561826	7567157	92	30330											
KIR3DL1	3811	broad.mit.edu	37	chr19	55333120	55333120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggagctcctatgacatGtaccatctatccagggaggg	11	12	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:55333120G>A	ENST00000391728.4	+	5	789	c.756G>A	c.(754-756)atG>atA	p.M252I	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.M252I|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.M252I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.M252I|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.M157I|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.M252I	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCTATGACATGTACCATCTAT	0.587													False	0	False	19:55333120	0	A	55333120	G	A	55333120	3	1	104	1	0	0	0	0	1	0	0	0	8370	1377	48	2	774	2	KIR3DL1	19	55333120	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	3771294	55333120	3795863	93	30331											
CDH26	60437	broad.mit.edu	37	chr20	58574705	58574705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagctgcagcaggacccaCgcagggagttaaggtaacat	12	11	0	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr20:58574705C>T	ENST00000348616.4	+	14	2384	c.2084C>T	c.(2083-2085)aCg>aTg	p.T695M	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Missense_Mutation_p.T28M|CDH26_ENST00000350849.6_Missense_Mutation_p.T28M|CDH26_ENST00000244047.5_Missense_Mutation_p.T695M	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	695					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCAGGACCCACGCAGGGAGTT	0.522													False	0	False	20:58574705	0	T	58574705	C	T	58574705	3	4	104	1	0	0	0	0	1	0	0	0	3133	536	19	1	2160	1	CDH26	20	58574705	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		58574705	4450815	94	30332											
RFPL1	5988	broad.mit.edu	37	chr22	29835118	29835118	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccaagctgaagaagaTtctgcagatgaacccaagga	12	9	1	5			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:29835118T>A	ENST00000354373.2	+	1	547	c.338T>A	c.(337-339)aTt>aAt	p.I113N	RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	113	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CTGAAGAAGATTCTGCAGATG	0.512													False	0	False	22:29835118	0	A	29835118	T	A	29835118	3	1	104	1	0	0	0	0	1	0	0	0	13332	1493	52	5	340	5	RFPL1	22	29835118	Missense_Mutation	SNP	T	TCGA-IB-A5SS-01A-11D-A32N-08		29835118	21469448	95	30333											
CACNG2	10369	broad.mit.edu	37	chr22	36960760	36960760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgcagctgtttgtgccGgtcgataaacatgtgcaccg	13	12	0	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:36960760G>A	ENST00000300105.6	-	4	1591	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	204					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTTTGTGCCGGTCGATAAAC	0.627													False	0	False	22:36960760	0	A	36960760	G	A	36960760	3	1	104	1	0	0	0	0	1	0	0	0	2577	1115	39	1	365	1	CACNG2	22	36960760	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	7125642	36960760	14343806	96	30334											
CACNA1I	8911	broad.mit.edu	37	chr22	40042649	40042649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagaccaagcaacgggagCaccggctgatgctggagcag	16	11	0	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:40042649C>T	ENST00000336649.4	+	10	1225	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y	CACNA1I_ENST00000404898.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000402142.3_Missense_Mutation_p.H409Y|CACNA1I_ENST00000401624.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000400164.3_Missense_Mutation_p.H409Y|CACNA1I_ENST00000407673.1_Missense_Mutation_p.H409Y			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	409					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCAACGGGAGCACCGGCTGAT	0.607													False	0	False	22:40042649	0	T	40042649	C	T	40042649	3	4	104	1	0	0	0	0	1	0	0	0	2566	710	25	2	1255	2	CACNA1I	22	40042649	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	3081889	40042649	11261917	97	30335											
SBF1	6305	broad.mit.edu	37	chr22	50900742	50900742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaggaggtagctcatgCggttggcatagtggatggcc	18	7	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:50900742C>T	ENST00000380817.3	-	19	2471	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	SBF1_ENST00000390679.3_Missense_Mutation_p.R763H|SBF1_ENST00000348911.6_Missense_Mutation_p.R764H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTAGCTCATGCGGTTGGCATA	0.647													False	0	False	22:50900742	0	T	50900742	C	T	50900742	3	4	104	1	0	0	0	0	1	0	0	0	13938	768	27	1	3485	1	SBF1	22	50900742	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	10858093	50900742	403824	98	30336											
SLC25A6	293	broad.mit.edu	37	chrX	1505518	1505518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatcaccttcttgagctcgtCgtacaggaccagcacgaagg	11	12	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chrX:1505518C>A	ENST00000381401.5	-	4	1588	c.874G>T	c.(874-876)Gac>Tac	p.D292Y		NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	292					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TTGAGCTCGTCGTACAGGACC	0.607													False	0	False	X:1505518	0	A	1505518	C	A	1505518	3	1	104	1	0	0	0	0	1	0	0	0	14593	884	31	3	26	3	SLC25A6	23	1505518	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		1505518	153765042	99	30337											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17950895	17950895	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtttcagttttccaagtccaTggtgctagatgtgtacagtg	11	7	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:17950895T>A	ENST00000361221.3	+	13	1373	c.1214T>A	c.(1213-1215)aTg>aAg	p.M405K	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.M183K|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.M366K|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.M163K|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.M405K|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.M366K|ARHGEF10L_ENST00000167825.4_Intron	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	405	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCCAAGTCCATGGTGCTAGAT	0.572													False	0	False	1:17950895	0	A	17950895	T	A	17950895	3	1	105	1	0	0	0	0	1	0	0	0	897	1464	51	5	1260	5	ARHGEF10L	1	17950895	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08		17950895	231299726	1	30338											
UBR4	23352	broad.mit.edu	37	chr1	19488948	19488948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaatcttcctcttccaccGccaactcctccacccagtct	5	19	3	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:19488948G>A	ENST00000375267.2	-	35	4925	c.4922C>T	c.(4921-4923)gCg>gTg	p.A1641V	UBR4_ENST00000375217.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375226.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375254.3_Missense_Mutation_p.A1641V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1641					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCTTCCACCGCCAACTCCTC	0.502													False	0	False	1:19488948	0	A	19488948	G	A	19488948	3	1	105	1	0	0	0	0	1	0	0	0	16988	1087	38	1	10917	1	UBR4	1	19488948	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	1538053	19488948	229761673	2	30339											
PHACTR4	65979	broad.mit.edu	37	chr1	28792265	28792265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccacccccatagggaatgCcagatcatctagtccagtcc	7	15	2	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.A124V	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	114							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	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)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGGGAATGCCAGATCATCT	0.463													False	0	False	1:28792265	0	T	28792265	C	T	28792265	3	4	105	1	0	0	0	0	1	0	0	0	11881	739	26	2	405	2	PHACTR4	1	28792265	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	9303317	28792265	220458356	3	30340											
PTPRU	10076	broad.mit.edu	37	chr1	29630460	29630460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggctccccataccacaCggggcagctgcaccctgcgg	13	16	0	0	rs146215972		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:29630460C>T	ENST00000373779.3	+	16	2699	c.2570C>T	c.(2569-2571)aCg>aTg	p.T857M	PTPRU_ENST00000345512.3_Missense_Mutation_p.T867M|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Missense_Mutation_p.T857M|PTPRU_ENST00000428026.2_Missense_Mutation_p.T857M|PTPRU_ENST00000323874.8_Missense_Mutation_p.T857M|PTPRU_ENST00000460170.2_Missense_Mutation_p.T857M	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	867	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCATACCACACGGGGCAGCTG	0.662													False	0	True	1:29630460	0	T	29630460	C	T	29630460	3	4	105	1	0	0	0	0	1	0	0	0	12892	536	19	1	2666	1	PTPRU	1	29630460	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	838195	29630460	219620161	4	30341			1	17		2	2	20	N	G_C	6.07604e-05
PTPRU	10076	broad.mit.edu	37	chr1	29630479	29630479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggcagctgcaccctgcGgtgcgtgtcgcagaccttct	14	14	1	1	rs145675393		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:29630479G>A	ENST00000373779.3	+	16	2718	c.2589G>A	c.(2587-2589)gcG>gcA	p.A863A	PTPRU_ENST00000345512.3_Silent_p.A873A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Silent_p.A863A|PTPRU_ENST00000428026.2_Silent_p.A863A|PTPRU_ENST00000323874.8_Silent_p.A863A|PTPRU_ENST00000460170.2_Silent_p.A863A	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	873	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCACCCTGCGGTGCGTGTCG	0.687													False	0	False	1:29630479	0	A	29630479	G	A	29630479	2	1	105	1	0	0	0	0	0	0	0	1	12892	1103	39	1		1	PTPRU	1	29630479	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	19	29630479	219620142	5	30342			1	17		2	2	20	N	G_C	6.07604e-05
ROR1	4919	broad.mit.edu	37	chr1	64643702	64643702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcccattcgctggatgCcccctgaagccatcatgtat	9	14	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:64643702C>T	ENST00000371079.1	+	9	2353	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S	ROR1_ENST00000545203.1_Missense_Mutation_p.P111S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	660	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TCGCTGGATGCCCCCTGAAGC	0.458													False	0	True	1:64643702	0	T	64643702	C	T	64643702	3	4	105	1	0	0	0	0	1	0	0	0	13605	739	26	2	2020	2	ROR1	1	64643702	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	35013223	64643702	184606919	6	30343											
ABCA4	24	broad.mit.edu	37	chr1	94543309	94543309	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaaatatgtccctccagtcGaagttggccatgtcgtcagc	9	11	1	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	497					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCTCCAGTCGAAGTTGGCCA	0.537													False	0	False	1:94543309	0	A	94543309	G	A	94543309	2	1	105	1	0	0	0	0	0	0	0	1	34	1049	37	1		1	ABCA4	1	94543309	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	29899607	94543309	154707312	7	30344											
SASS6	163786	broad.mit.edu	37	chr1	100573235	100573235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagcttcaagctttcctagTtgtacttgatttttctcacc	6	10	2	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.Q198H	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	365					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GCTTTCCTAGTTGTACTTGAT	0.249													False	0	False	1:100573235	0	G	100573235	T	G	100573235	3	3	105	1	0	0	0	0	1	0	0	0	13930	1722	60	4	910	4	SASS6	1	100573235	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	6029926	100573235	148677386	8	30345											
DBT	1629	broad.mit.edu	37	chr1	100681577	100681577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctttgcctgtgaataccGgaggttttgatactagtata	10	6	1	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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						branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TGTGAATACCGGAGGTTTTGA	0.388													False	0	False	1:100681577	0	A	100681577	G	A	100681577	3	1	105	1	0	0	0	0	1	0	0	0	4283	1116	39	1	738	1	DBT	1	100681577	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	108342	100681577	148569044	9	30346											
CSF1	1435	broad.mit.edu	37	chr1	110458293	110458293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctcgtgccaaattacatTtgagtttgtagaccaggaac	9	9	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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_ENST00000526001.1_3'UTR|CSF1_ENST00000369802.3_Missense_Mutation_p.F67S|CSF1_ENST00000420111.2_Missense_Mutation_p.F67S|CSF1_ENST00000369801.1_Missense_Mutation_p.F67S|CSF1_ENST00000344188.5_Missense_Mutation_p.F67S	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	67					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAAATTACATTTGAGTTTGTA	0.502													False	0	True	1:110458293	0	C	110458293	T	C	110458293	3	2	105	1	0	0	0	0	1	0	0	0	3956	1841	64	4	210	4	CSF1	1	110458293	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	9776716	110458293	138792328	10	30347											
PSMD4	5710	broad.mit.edu	37	chr1	151238835	151238835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagcaagagtttggccGcactgggcttcctgacctaa	11	13	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:151238835G>A	ENST00000368884.3	+	8	895	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	272					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTTGGCCGCACTGGGCTT	0.547													False	0	False	1:151238835	0	A	151238835	G	A	151238835	3	1	105	1	0	0	0	0	1	0	0	0	12776	1087	38	1	845	1	PSMD4	1	151238835	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	40780542	151238835	98011786	11	30348											
NUP210L	91181	broad.mit.edu	37	chr1	154072575	154072575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccaagagatttagctgCgatatgtgtactggaacaat	11	6	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	622						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	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	0.443													False	0	False	1:154072575	0	T	154072575	C	T	154072575	3	4	105	1	0	0	0	0	1	0	0	0	10829	768	27	1	3910	1	NUP210L	1	154072575	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	2833740	154072575	95178046	12	30349											
F5	2153	broad.mit.edu	37	chr1	169510281	169510281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatctgaccgagggctggGgaaaggtttgtttgactgag	17	6	1	3			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:169510281G>A	ENST00000367796.3	-	13	4263	c.4062C>T	c.(4060-4062)tcC>tcT	p.S1354S	F5_ENST00000367797.3_Silent_p.S1349S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1349	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.S1349S(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CGAGGGCTGGGGAAAGGTTTG	0.517													False	0	True	1:169510281	0	A	169510281	G	A	169510281	2	1	105	1	0	0	0	0	0	0	0	1	5381	1219	43	2		2	F5	1	169510281	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	15437706	169510281	79740340	13	30350											
PIGR	5284	broad.mit.edu	37	chr1	207105858	207105858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccacggctcccactgccaGcaccaggcccaggggcacca	11	19	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	651						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCACTGCCAGCACCAGGCCC	0.637													False	0	False	1:207105858	0	A	207105858	G	A	207105858	2	1	105	1	0	0	0	0	0	0	0	1	11966	962	34	2		2	PIGR	1	207105858	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	37595577	207105858	42144763	14	30351											
SNAP47	116841	broad.mit.edu	37	chr1	227947156	227947156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaagaacctcttcccccGcagagaagagctgctcagtc	10	15	2	3			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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_ENST00000366760.1_Missense_Mutation_p.A123T|SNAP47_ENST00000315781.5_Missense_Mutation_p.A365T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	365						endomembrane system|membrane|perinuclear region of cytoplasm		p.A365T(1)		endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTCTTCCCCCGCAGAGAAGAG	0.517													False	0	True	1:227947156	0	A	227947156	G	A	227947156	3	1	105	1	0	0	0	0	1	0	0	0	14912	1087	38	1	1103	1	SNAP47	1	227947156	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	20841298	227947156	21303465	15	30352											
CAPN9	10753	broad.mit.edu	37	chr1	230928629	230928629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgatgctgacaagtccGgcaccatgtctacctatgaa	10	10	1	3			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:230928629G>A	ENST00000354537.1	+	16	1829	c.1747G>A	c.(1747-1749)Ggc>Agc	p.G583S	RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.G546S|CAPN9_ENST00000271971.2_Missense_Mutation_p.G609S|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	609	Domain IV.|EF-hand 2.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TGACAAGTCCGGCACCATGTC	0.512													False	0	False	1:230928629	0	A	230928629	G	A	230928629	3	1	105	1	0	0	0	0	1	0	0	0	2652	1116	39	1	1891	1	CAPN9	1	230928629	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	2981473	230928629	18321992	16	30353											
ZP4	57829	broad.mit.edu	37	chr1	238050775	238050775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcattcctaagggccaagcGcacagaatccaagagcagtg	11	11	1	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:238050775G>A	ENST00000366570.4	-	5	798	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	214	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGCCAAGCGCACAGAATCC	0.507													False	0	False	1:238050775	0	A	238050775	G	A	238050775	3	1	105	1	0	0	0	0	1	0	0	0	18300	1087	38	1	1014	1	ZP4	1	238050775	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	7122146	238050775	11199846	17	30354											
OR2M5	127059	broad.mit.edu	37	chr1	248309150	248309150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggatctggagagggtcGtcgcaaagcttttactacct	12	9	1	1	rs147580819		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	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	0.463													False	0	False	1:248309150	0	A	248309150	G	A	248309150	3	1	105	1	0	0	0	0	1	0	0	0	11081	1145	40	1	703	1	OR2M5	1	248309150	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	10258375	248309150	941471	18	30355											
C2orf16	84226	broad.mit.edu	37	chr2	27804824	27804824	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agccatcacagtccctctgaGagaagccatcacagtccctc	7	16	3	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1795	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTCCCTCTGAGAGAAGCCATC	0.547													False	0	True	2:27804824	0	C	27804824	G	C	27804824	3	2	105	1	0	0	0	0	1	0	0	0	2173	933	33	5	5387	5	C2orf16	2	27804824	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		27804824	215394549	19	30356											
TTN	7273	broad.mit.edu	37	chr2	179582534	179582534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagaaaggtggaagtttgCgcgctgtaaagaagttacag	13	5	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:179582534C>T	ENST00000589042.1	-	87	25291	c.25067G>A	c.(25066-25068)cGc>cAc	p.R8356H	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R8039H|TTN_ENST00000342992.6_Missense_Mutation_p.R7112H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8039	Ig-like 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAAGTTTGCGCGCTGTAAA	0.373													False	0	True	2:179582534	0	T	179582534	C	T	179582534	3	4	105	1	0	0	0	0	1	0	0	0	16819	768	27	1	79566	1	TTN	2	179582534	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	151777710	179582534	63616839	20	30357											
STK11IP	114790	broad.mit.edu	37	chr2	220479983	220479983	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtgcgtgtcagggagCagcagccactcagcagcctg	14	13	2	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	1024					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCAGGGAGCAGCAGCCACT	0.647													False	0	True	2:220479983	0	T	220479983	C	T	220479983	4	4	105	1	0	0	0	0	0	1	0	0	15370	711	25	2	3164	2	STK11IP	2	220479983	Nonsense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	40897449	220479983	22719390	21	30358											
FYCO1	79443	broad.mit.edu	37	chr3	46000100	46000100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtagtaacagaagatgCggccacatatcctgggaaca	11	9	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:46000100C>T	ENST00000296137.2	-	13	3804	c.3599G>A	c.(3598-3600)cGc>cAc	p.R1200H	FYCO1_ENST00000438446.1_5'UTR|FYCO1_ENST00000535325.1_Missense_Mutation_p.R1200H	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1200					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		ACAGAAGATGCGGCCACATAT	0.532													False	0	False	3:46000100	0	T	46000100	C	T	46000100	3	4	105	1	0	0	0	0	1	0	0	0	6167	768	27	1	861	1	FYCO1	3	46000100	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		46000100	152022330	22	30359											
RBM15B	29890	broad.mit.edu	37	chr3	51430415	51430415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggacgccgacctggtgCgggacaggacgcccccacac	13	17	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	529					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGACCTGGTGCGGGACAGGAC	0.612													False	0	True	3:51430415	0	T	51430415	C	T	51430415	3	4	105	1	0	0	0	0	1	0	0	0	13196	759	27	1	1587	1	RBM15B	3	51430415	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	5430315	51430415	146592015	23	30360											
SLC34A2	10568	broad.mit.edu	37	chr4	25674740	25674740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgaatttccacctcccGgatcttgctgtgggcaccat	9	12	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	360					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCCACCTCCCGGATCTTGCTG	0.512			T	ROS1	NSCLC								False	0	True	4:25674740	0	A	25674740	G	A	25674740	2	1	105	1	0	0	0	0	0	0	0	1	14648	1103	39	1		1	SLC34A2	4	25674740	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		25674740	165479536	24	30361											
H2AFZ	3015	broad.mit.edu	37	chr4	100870830	100870830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactactgacctgcaagccgGctctctgcgagcgggaaacc	11	14	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	24					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTGCAAGCCGGCTCTCTGCGA	0.567													False	0	True	4:100870830	0	A	100870830	G	A	100870830	3	1	105	1	0	0	0	0	1	0	0	0	6978	1203	42	2	331	2	H2AFZ	4	100870830	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	75196090	100870830	90283446	25	30362											
TAS2R1	50834	broad.mit.edu	37	chr5	9629467	9629467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggacaggatagacagcaaCgcgctgatgggtgcacccct	13	11	0	2	rs140696180		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	226					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TAGACAGCAACGCGCTGATGG	0.498													False	0	False	5:9629467	0	T	9629467	C	T	9629467	2	4	105	1	0	0	0	0	0	0	0	1	15647	523	19	1		1	TAS2R1	5	9629467	Silent	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		9629467	171285793	26	30363											
ANKRD55	79722	broad.mit.edu	37	chr5	55472007	55472007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaggcataaacttgtgCggccataagcatcctgcatg	11	11	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	94										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TAAACTTGTGCGGCCATAAGC	0.542													False	0	False	5:55472007	0	T	55472007	C	T	55472007	3	4	105	1	0	0	0	0	1	0	0	0	681	768	27	1	1596	1	ANKRD55	5	55472007	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	45842540	55472007	125443253	27	30364											
OTP	23440	broad.mit.edu	37	chr5	76932865	76932865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgtccgggtctttggcGctcaccgccagcgaggccgg	15	14	2	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	76						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GGTCTTTGGCGCTCACCGCCA	0.711													False	0	False	5:76932865	0	A	76932865	G	A	76932865	2	1	105	1	0	0	0	0	0	0	0	1	11378	1078	38	1		1	OTP	5	76932865	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	21460858	76932865	103982395	28	30365											
ANKRD34B	340120	broad.mit.edu	37	chr5	79855633	79855633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcattgttctctaacaggTatttcaccattttggcttta	7	9	2	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	69						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CTCTAACAGGTATTTCACCAT	0.448													False	0	False	5:79855633	0	C	79855633	T	C	79855633	3	2	105	1	0	0	0	0	1	0	0	0	663	1638	57	4	1342	4	ANKRD34B	5	79855633	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	2922768	79855633	101059627	29	30366											
SLCO4C1	353189	broad.mit.edu	37	chr5	101576467	101576467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcccaaggctagggaccGttgtctgtgattaacacacc	9	11	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	611					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	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)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338													False	0	False	5:101576467	0	A	101576467	G	A	101576467	3	1	105	1	0	0	0	0	1	0	0	0	14810	1144	40	1	355	1	SLCO4C1	5	101576467	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	21720834	101576467	79338793	30	30367											
AQPEP	0	broad.mit.edu	37	chr5	115351411	115351411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcatctgaagttggccGgtatgtcgcaaaagacttct	11	9	3	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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		902					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GAAGTTGGCCGGTATGTCGCA	0.408													False	0	False	5:115351411	0	A	115351411	G	A	115351411	3	1	105	1	0	0	0	0	1	0	0	0	836	1116	39	1	2775	1	AQPEP	5	115351411	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	13774944	115351411	65563849	31	30368											
PHF15	0	broad.mit.edu	37	chr5	133895608	133895608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagcctgattggccagggGgcagccgctatgacttggac	14	13	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:133895608G>T	ENST00000395003.1	+	5	579	c.400G>T	c.(400-402)Ggc>Tgc	p.G134C	PHF15_ENST00000361895.2_Missense_Mutation_p.G134C|PHF15_ENST00000282605.4_Missense_Mutation_p.G134C|PHF15_ENST00000402835.1_Missense_Mutation_p.G134C	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		134					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGCCAGGGGGCAGCCGCTA	0.577													False	0	True	5:133895608	0	T	133895608	G	T	133895608	3	4	105	1	0	0	0	0	1	0	0	0	11895	1232	43	3	414	3	PHF15	5	133895608	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	18544197	133895608	47019652	32	30369											
DIAPH1	1729	broad.mit.edu	37	chr5	140908384	140908384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaagctctcactcttaCgtaactcctcacatgcagca	6	13	3	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:140908384C>T	ENST00000253811.6	-	22	3046	c.2906G>A	c.(2905-2907)cGt>cAt	p.R969H	DIAPH1_ENST00000389057.5_Missense_Mutation_p.R959H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R944H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R956H|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R968H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R911H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R960H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R965H|DIAPH1_ENST00000494967.1_5'UTR			O60610	DIAP1_HUMAN	diaphanous-related formin 1	968	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACTCTTACGTAACTCCTC	0.448													False	0	False	5:140908384	0	T	140908384	C	T	140908384	3	4	105	1	0	0	0	0	1	0	0	0	4548	536	19	1	943	1	DIAPH1	5	140908384	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	7012776	140908384	40006876	33	30370											
GRK6	2870	broad.mit.edu	37	chr5	176860178	176860178	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtacctgagcgtggccccTtttgccgactacctcgacag	11	14	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:176860178T>C	ENST00000355472.5	+	6	639	c.471T>C	c.(469-471)ccT>ccC	p.P157P	GRK6_ENST00000393576.3_Silent_p.P157P|GRK6_ENST00000507633.1_Silent_p.P157P|GRK6_ENST00000528793.1_Silent_p.P157P|GRK6_ENST00000355958.5_Silent_p.P157P	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	157	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTGGCCCCTTTTGCCGACT	0.627													False	0	True	5:176860178	0	C	176860178	T	C	176860178	2	2	105	1	0	0	0	0	0	0	0	1	6840	1596	56	4		4	GRK6	5	176860178	Silent	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	35951794	176860178	4055082	34	30371											
TNXB	7148	broad.mit.edu	37	chr6	32064921	32064921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggggcctgagaagcctgCccggcacacacacacgccct	12	17	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:32064921C>T	ENST00000375244.3	-	3	910	c.709G>A	c.(709-711)Gca>Aca	p.A237T	TNXB_ENST00000479795.1_Missense_Mutation_p.A237T|TNXB_ENST00000375247.2_Missense_Mutation_p.A237T			P22105	TENX_HUMAN	tenascin XB	237	EGF-like 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGAAGCCTGCCCGGCACACA	0.701													False	0	True	6:32064921	0	T	32064921	C	T	32064921	3	4	105	1	0	0	0	0	1	0	0	0	16428	739	26	2	14172	2	TNXB	6	32064921	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		32064921	139050146	35	30372											
LGSN	51557	broad.mit.edu	37	chr6	63990012	63990012	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcatggcaacaaaatatcGaataaaggtttctcctagag	7	8	2	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	482					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACAAAATATCGAATAAAGGTT	0.378													False	0	False	6:63990012	0	A	63990012	G	A	63990012	4	1	105	1	0	0	0	0	0	1	0	0	8811	1066	37	1	89	1	LGSN	6	63990012	Nonsense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	31925091	63990012	107125055	36	30373											
REV3L	5980	broad.mit.edu	37	chr6	111726826	111726827	+	Frame_Shift_Ins	INS	-	-	CGAAAAGCAAGAAGGAAAAGTAAGGTTA													gctccgctttgcaaaagttcINSacatatcctaaattagaaaa							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:111726826_111726827insCGAAAAGCAAGAAGGAAAAGTAAGGTTA	ENST00000358835.3	-	5	865_866	c.411_412insTAACCTTACTTTTCCTTCTTGCTTTTCG	c.(409-414)tgtgaafs	p.E138fs	REV3L_ENST00000368805.1_Frame_Shift_Ins_p.E138fs|REV3L_ENST00000435970.1_Frame_Shift_Ins_p.E60fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.E138fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	138					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGCAAAAGTTCACATATCCTAA	0.307								DNA polymerases (catalytic subunits)					False	0	False	6:111726826	0	CGAAAAGCAAGAAGGAAAAGTAAGGTTA	111726827	-	CGAAAAGCAAGAAGGAAAAGTAAGGTTA	111726826	7	5	105	1	0	1	1	0	0	0	0	0	13319	835	29	0	9096	0	REV3L	6	111726826	Frame_Shift_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	47736814	111726826	59388241	37	30374											
MAP7	9053	broad.mit.edu	37	chr6	136742933	136742933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgcactttgtagctgtcGggtgctacagaaatgagaca	11	8	1	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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_ENST00000438100.2_Silent_p.P46P|MAP7_ENST00000454590.1_Silent_p.P46P|MAP7_ENST00000432797.2_5'UTR|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	24					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGTAGCTGTCGGGTGCTACAG	0.373													False	0	True	6:136742933	0	A	136742933	G	A	136742933	2	1	105	1	0	0	0	0	0	0	0	1	9333	1103	39	1		1	MAP7	6	136742933	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	25016107	136742933	34372134	38	30375											
ARID1B	57492	broad.mit.edu	37	chr6	157528497	157528497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactgtgggacccaactcGgtcctgtcgcctcagagact	10	15	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:157528497G>A	ENST00000346085.5	+	20	6223	c.6222G>A	c.(6220-6222)tcG>tcA	p.S2074S	ARID1B_ENST00000367148.1_Silent_p.S2114S|ARID1B_ENST00000350026.5_Silent_p.S2061S|ARID1B_ENST00000275248.4_Silent_p.S2056S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2061					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GACCCAACTCGGTCCTGTCGC	0.532													False	0	False	6:157528497	0	A	157528497	G	A	157528497	2	1	105	1	0	0	0	0	0	0	0	1	916	1103	39	1		1	ARID1B	6	157528497	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	20785564	157528497	13586570	39	30376											
HECW1	23072	broad.mit.edu	37	chr7	43484703	43484703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcctggccaatggcgcGgcccaggatggcgacacgca	14	16	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCAATGGCGCGGCCCAGGATG	0.711													False	0	False	7:43484703	0	A	43484703	G	A	43484703	2	1	105	1	0	0	0	0	0	0	0	1	7089	1103	39	1		1	HECW1	7	43484703	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		43484703	115653960	40	30377											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	105	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-IB-A5ST-01A-11D-A32N-08	669075	44153778	114984885	41	30378											
ZMIZ2	83637	broad.mit.edu	37	chr7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-													aagcggcagctgctgcagctGtggctgctgcggcagccact					rs142075074	by1000genomes	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678													False	1	False	7:44797065	0	-	44797109	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	44797065	7	5	105	1	0	1	0	1	0	0	0	0	17780	1377	48	0	471	0	ZMIZ2	7	44797065	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	TCGA-IB-A5ST-01A-11D-A32N-08	643287	44797065	114341598	42	30379											
TEX15	56154	broad.mit.edu	37	chr8	30694422	30694423	+	In_Frame_Ins	INS	-	-	TTTATTGAGTTGTTA													attgtgaaaaaattggctgcINScgaaaattagaagcaggtat							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:30694422_30694423insTTTATTGAGTTGTTA	ENST00000256246.2	-	3	8302_8303	c.8228_8229insTAACAACTCAATAAA	c.(8227-8229)cgg>cgTAACAACTCAATAAAg	p.2743_2744insNNSIK		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2743										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAATTGGCTGCCGAAAATTAGA	0.406													False	0	False	8:30694422	0	TTTATTGAGTTGTTA	30694423	-	TTTATTGAGTTGTTA	30694422	7	5	105	1	0	1	1	0	0	0	0	0	15861	726	26	0	148	0	TEX15	8	30694422	In_Frame_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08		30694422	115669600	43	30380	369	2									
TEX15	56154	broad.mit.edu	37	chr8	30694423	30694424	+	Frame_Shift_Ins	INS	-	-	TTTTAACTGTGTCCATTTATGTAAGT													ttgtgaaaaaattggctgccINSgaaaattagaagcaggtatt							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:30694423_30694424insTTTTAACTGTGTCCATTTATGTAAGT	ENST00000256246.2	-	3	8301_8302	c.8227_8228insACTTACATAAATGGACACAGTTAAAA	c.(8227-8229)cggfs	p.R2743fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2743										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTGGCTGCCGAAAATTAGAA	0.411													False	0	True	8:30694423	0	TTTTAACTGTGTCCATTTATGTAAGT	30694424	-	TTTTAACTGTGTCCATTTATGTAAGT	30694423	7	5	105	1	0	1	1	0	0	0	0	0	15861	652	23	0	149	0	TEX15	8	30694423	Frame_Shift_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	1	30694423	115669599	44	30381	369	2									
ANK1	286	broad.mit.edu	37	chr8	41519413	41519413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcgtgctcctgggcgGcatcggcgctggacaagtct	13	15	1	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:41519413G>A	ENST00000396942.1	-	41	5608	c.5525C>T	c.(5524-5526)gCc>gTc	p.A1842V	ANK1_ENST00000522231.1_Missense_Mutation_p.A117V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1883V|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000314214.8_Missense_Mutation_p.A117V|ANK1_ENST00000347528.4_Missense_Mutation_p.A1842V|ANK1_ENST00000352337.4_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000522543.1_Missense_Mutation_p.A117V|ANK1_ENST00000289734.7_Missense_Mutation_p.A1842V|ANK1_ENST00000457297.1_Intron|RP11-930P14.1_ENST00000585088.1_RNA			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1842	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	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	0.572													False	0	False	8:41519413	0	A	41519413	G	A	41519413	3	1	105	1	0	0	0	0	1	0	0	0	620	1203	42	2	231	2	ANK1	8	41519413	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	10824990	41519413	104844609	45	30382											
PRUNE2	158471	broad.mit.edu	37	chr9	79320990	79320990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctatccacaagtcaggcGcggcagaggccagctgccca	11	15	2	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:79320990G>A	ENST00000428286.1	-	8	6323	c.5123C>T	c.(5122-5124)gCg>gTg	p.A1708V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A2067V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2067					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAGTCAGGCGCGGCAGAGGC	0.512													False	0	False	9:79320990	0	A	79320990	G	A	79320990	3	1	105	1	0	0	0	0	1	0	0	0	12717	1087	38	1	3114	1	PRUNE2	9	79320990	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		79320990	61892441	46	30383											
C9orf3	84909	broad.mit.edu	37	chr9	97522552	97522553	+	Frame_Shift_Ins	INS	-	-	GTTGTCATGGTTACCATCTTTATCAGAAGTAT													cgaggaggtggatgttgctgINSctgtgccaggtctggaaaaa							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:97522552_97522553insGTTGTCATGGTTACCATCTTTATCAGAAGTAT	ENST00000297979.5	+	2	662_663	c.487_488insGTTGTCATGGTTACCATCTTTATCAGAAGTAT	c.(487-489)gctfs	p.A163fs	C9orf3_ENST00000375315.2_Frame_Shift_Ins_p.A163fs|C9orf3_ENST00000277198.2_Frame_Shift_Ins_p.A163fs	NM_032823.5	NP_116212.3	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	163					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGATGTTGCTGCTGTGCCAGGT	0.46													False	0	False	9:97522552	0	GTTGTCATGGTTACCATCTTTATCAGAAGTAT	97522553	-	GTTGTCATGGTTACCATCTTTATCAGAAGTAT	97522552	7	5	105	1	0	1	1	0	0	0	0	0	2497	1319	46	0	489	0	C9orf3	9	97522552	Frame_Shift_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	18201562	97522552	43690879	47	30384											
HABP4	22927	broad.mit.edu	37	chr9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcccgagagggggtatgCgcggcagaggcagaggtggc	22	8	0	3			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	193					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483													False	0	False	9:99227683	0	T	99227683	C	T	99227683	3	4	105	1	0	0	0	0	1	0	0	0	6986	768	27	1	587	1	HABP4	9	99227683	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	1705131	99227683	41985748	48	30385											
ADAMTS13	11093	broad.mit.edu	37	chr9	136310876	136310876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggggcagcatcaggacGggggctcaagctgcacacgt	15	12	2	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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_ENST00000356589.2_Silent_p.T858T|ADAMTS13_ENST00000355699.2_Silent_p.T889T|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|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	889					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCATCAGGACGGGGGCTCAAG	0.677													False	0	True	9:136310876	0	A	136310876	G	A	136310876	2	1	105	1	0	0	0	0	0	0	0	1	258	1103	39	1		1	ADAMTS13	9	136310876	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	37083193	136310876	4902555	49	30386											
ITIH5	80760	broad.mit.edu	37	chr10	7679231	7679231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcctgctgttgtgaagCggcagcacctccagggatgc	13	13	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.P204P|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Silent_p.P204P	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	204					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGTTGTGAAGCGGCAGCACCT	0.647													False	0	False	10:7679231	0	T	7679231	C	T	7679231	2	4	105	1	0	0	0	0	0	0	0	1	7957	755	27	1		1	ITIH5	10	7679231	Silent	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		7679231	127855516	50	30387											
RRP12	23223	broad.mit.edu	37	chr10	99118343	99118343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtaggcatagggatccgGccggcctttcttcttcacat	11	11	3	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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_ENST00000414986.1_Missense_Mutation_p.P1187S|RRP12_ENST00000536831.1_Missense_Mutation_p.P966S|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.P1148S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1248						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TAGGGATCCGGCCGGCCTTTC	0.582													False	0	True	10:99118343	0	A	99118343	G	A	99118343	3	1	105	1	0	0	0	0	1	0	0	0	13765	1203	42	2	159	2	RRP12	10	99118343	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	91439112	99118343	36416404	51	30388											
PDCD4	27250	broad.mit.edu	37	chr10	112641004	112641004	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttaagatcctgataacttAagtgactctctcttttccgg	6	10	2	3			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:112641004A>T	ENST00000393104.2	+	4	384	c.24A>T	c.(22-24)ttA>ttT	p.L8F	PDCD4_ENST00000280154.7_Missense_Mutation_p.L19F	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	19					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGATAACTTAAGTGACTCTC	0.308													False	0	False	10:112641004	0	T	112641004	A	T	112641004	3	4	105	1	0	0	0	0	1	0	0	0	11689	359	13	5	77	5	PDCD4	10	112641004	Missense_Mutation	SNP	A	TCGA-IB-A5ST-01A-11D-A32N-08	13522661	112641004	22893743	52	30389											
ACSL5	51703	broad.mit.edu	37	chr10	114185121	114185121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctgaagatcatcgaccGtaaaaagaacattttcaagc	6	9	3	3			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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_ENST00000356116.1_Missense_Mutation_p.R596H|ACSL5_ENST00000369410.3_Missense_Mutation_p.R322H|ACSL5_ENST00000354273.4_Missense_Mutation_p.R540H|ACSL5_ENST00000433418.1_Missense_Mutation_p.R540H|ACSL5_ENST00000354655.4_Missense_Mutation_p.R540H	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	540					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATCATCGACCGTAAAAAGAAC	0.388													False	0	False	10:114185121	0	A	114185121	G	A	114185121	3	1	105	1	0	0	0	0	1	0	0	0	180	1145	40	1	1857	1	ACSL5	10	114185121	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	1544117	114185121	21349626	53	30390											
HTRA1	5654	broad.mit.edu	37	chr10	124273731	124273731	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtctcaaggaaaacgacgtCataatcagcatcaatggaca	9	9	4	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	433	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AAAACGACGTCATAATCAGCA	0.493													False	0	False	10:124273731	0	A	124273731	C	A	124273731	2	1	105	1	0	0	0	0	0	0	0	1	7503	813	29	3		3	HTRA1	10	124273731	Silent	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	10088610	124273731	11261016	54	30391											
SLC25A22	79751	broad.mit.edu	37	chr11	792328	792328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggggttgacggccacagCggcggcactcccagccacac	13	16	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	240						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	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)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	ACGGCCACAGCGGCGGCACTC	0.682													False	0	False	11:792328	0	T	792328	C	T	792328	3	4	105	1	0	0	0	0	1	0	0	0	14565	768	27	1	265	1	SLC25A22	11	792328	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		792328	134214188	55	30392											
NUP98	4928	broad.mit.edu	37	chr11	3697456	3697456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcagttcgtccatggcaTagtcctcaggcatgggaagc	13	11	1	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	1796					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTCCATGGCATAGTCCTCAGG	0.592			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								False	0	False	11:3697456	0	C	3697456	T	C	3697456	3	2	105	1	0	0	0	0	1	0	0	0	10841	1406	49	4	70	4	NUP98	11	3697456	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	2905128	3697456	131309060	56	30393											
CKAP5	9793	broad.mit.edu	37	chr11	46782199	46782199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcagctggtcccttgcGtaacatgttggcattggagc	12	11	1	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1453					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	p.R1453C(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGTCCCTTGCGTAACATGTTG	0.483													False	0	False	11:46782199	0	A	46782199	G	A	46782199	3	1	105	1	0	0	0	0	1	0	0	0	3468	1145	40	1	1789	1	CKAP5	11	46782199	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	43084743	46782199	88224317	57	30394											
OR5D13	390142	broad.mit.edu	37	chr11	55541693	55541693	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggaactatccttttcctTtactgtgttcctaatcctaa	4	11	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCCTTTTCCTTTACTGTGTTC	0.458													False	0	True	11:55541693	0	C	55541693	T	C	55541693	2	2	105	1	0	0	0	0	0	0	0	1	11222	1828	64	4		4	OR5D13	11	55541693	Silent	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	8759494	55541693	79464823	58	30395											
TYR	7299	broad.mit.edu	37	chr11	88911586	88911586	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcatccccatagggacCtatggccaaatgaaaaatgg	9	9	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	155			T -> S (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCATAGGGACCTATGGCCAAA	0.413													False	0	False	11:88911586	0	A	88911586	C	A	88911586	2	1	105	1	0	0	0	0	0	0	0	1	16897	668	24	3		3	TYR	11	88911586	Silent	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	33369893	88911586	46094930	59	30396											
MTNR1B	4544	broad.mit.edu	37	chr11	92715132	92715132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaagcccagcgacttgcGgagctttctaaccatgtttg	10	12	1	1	rs150751119		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	248					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AGCGACTTGCGGAGCTTTCTA	0.572													False	0	False	11:92715132	0	A	92715132	G	A	92715132	3	1	105	1	0	0	0	0	1	0	0	0	10019	1116	39	1	749	1	MTNR1B	11	92715132	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	3803546	92715132	42291384	60	30397											
LAYN	143903	broad.mit.edu	37	chr11	111428363	111428363	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggtttggatctgtagAaaaaggcaagtaaaaccttc	11	5	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:111428363A>G	ENST00000436913.2	+	5	722	c.321A>G	c.(319-321)agA>agG	p.R107R	LAYN_ENST00000525126.1_Silent_p.R260R|LAYN_ENST00000375614.2_Silent_p.R252R|LAYN_ENST00000375615.3_Silent_p.R260R|LAYN_ENST00000533265.1_Silent_p.R252R|LAYN_ENST00000528924.1_3'UTR	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	260	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	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)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GGATCTGTAGAAAAAGGCAAG	0.443													False	0	True	11:111428363	0	G	111428363	A	G	111428363	2	3	105	1	0	0	0	0	0	0	0	1	8700	243	9	4		4	LAYN	11	111428363	Silent	SNP	A	TCGA-IB-A5ST-01A-11D-A32N-08	18713231	111428363	23578153	61	30398											
USP2	9099	broad.mit.edu	37	chr11	119243920	119243920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtctggctctctgcccGcttaccacccccagtgatgt	10	17	2	1	rs146943763	by1000genomes	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	91	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CTCTCTGCCCGCTTACCACCC	0.652													False	0	True	11:119243920	0	A	119243920	G	A	119243920	3	1	105	1	0	0	0	0	1	0	0	0	17135	1086	38	1	1745	1	USP2	11	119243920	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	7815557	119243920	15762596	62	30399											
POU2F3	25833	broad.mit.edu	37	chr11	120175780	120175780	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggatcctctttagaaccCcacctggaagcatcccagca	7	16	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:120175780C>A	ENST00000260264.4	+	7	526	c.492C>A	c.(490-492)ccC>ccA	p.P164P	POU2F3_ENST00000543440.2_Silent_p.P162P	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	162					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CTTTAGAACCCCACCTGGAAG	0.542													False	0	True	11:120175780	0	A	120175780	C	A	120175780	2	1	105	1	0	0	0	0	0	0	0	1	12342	610	22	3		3	POU2F3	11	120175780	Silent	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	931860	120175780	14830736	63	30400											
TECTA	7007	broad.mit.edu	37	chr11	121016448	121016448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctatggtctgtgtggccGctacaacggcaaccctgatg	11	13	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	1243	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.R1243H(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGTGTGGCCGCTACAACGGC	0.532													False	0	False	11:121016448	0	A	121016448	G	A	121016448	3	1	105	1	0	0	0	0	1	0	0	0	15829	1087	38	1	3770	1	TECTA	11	121016448	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	840668	121016448	13990068	64	30401											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	105	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		25398284	108453611	65	30402											
ADCY6	112	broad.mit.edu	37	chr12	49164612	49164612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatctgctccatgagccGcatggcgtagtcagccaggg	12	13	3	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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_ENST00000550422.1_Missense_Mutation_p.R1012W|ADCY6_ENST00000357869.3_Missense_Mutation_p.R1012W	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1065					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCATGAGCCGCATGGCGTAG	0.552													False	0	False	12:49164612	0	A	49164612	G	A	49164612	3	1	105	1	0	0	0	0	1	0	0	0	298	1086	38	1	325	1	ADCY6	12	49164612	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	23766328	49164612	84687283	66	30403											
GTSF1	121355	broad.mit.edu	37	chr12	54858949	54858949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctcagggtccagggagtCggctgaaagacagaagtgtt	14	8	1	3			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	GTSF1_ENST00000305879.5_Missense_Mutation_p.D7N|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_Intron|RP11-753H16.5_ENST00000552785.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	7							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TCCAGGGAGTCGGCTGAAAGA	0.428													False	0	False	12:54858949	0	T	54858949	C	T	54858949	3	4	105	1	0	0	0	0	1	0	0	0	6933	884	31	1	508	1	GTSF1	12	54858949	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	5694337	54858949	78992946	67	30404											
OR6C74	254783	broad.mit.edu	37	chr12	55641968	55641969	+	Frame_Shift_Ins	INS	-	-	TTTCTCTGTTGAG													aacaagtaaaagatgtttttINSaagcacacagtcaaaaagat							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:55641968_55641969insTTTCTCTGTTGAG	ENST00000343870.4	+	1	987_988	c.897_898insTTTCTCTGTTGAG	c.(898-900)aagfs	p.K300fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AAGATGTTTTTAAGCACACAGT	0.317													False	0	True	12:55641968	0	TTTCTCTGTTGAG	55641969	-	TTTCTCTGTTGAG	55641968	7	5	105	1	0	1	1	0	0	0	0	0	11266	1751	61	0	899	0	OR6C74	12	55641968	Frame_Shift_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	783019	55641968	78209927	68	30405											
C12orf74	338809	broad.mit.edu	37	chr12	93100538	93100538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccggcaagccccaggccGcatctccacctcgcccactt	8	20	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:93100538G>A	ENST00000544406.2	+	2	397	c.131G>A	c.(130-132)cGc>cAc	p.R44H	C12orf74_ENST00000397833.3_Missense_Mutation_p.R44H			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	44										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GCCCCAGGCCGCATCTCCACC	0.642													False	0	False	12:93100538	0	A	93100538	G	A	93100538	3	1	105	1	0	0	0	0	1	0	0	0	1723	1087	38	1	133	1	C12orf74	12	93100538	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	37458570	93100538	40751357	69	30406											
DCLK1	9201	broad.mit.edu	37	chr13	36445384	36445384	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggtggaggcaggggacTtgctacgcctggacggtcct	17	10	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:36445384T>G	ENST00000255448.4	-	5	1128	c.917A>C	c.(916-918)aAg>aCg	p.K306T	DCLK1_ENST00000360631.3_Missense_Mutation_p.K306T|DCLK1_ENST00000379892.4_Missense_Mutation_p.K306T	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	306	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(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)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGCAGGGGACTTGCTACGCCT	0.532													False	0	False	13:36445384	0	G	36445384	T	G	36445384	3	3	105	1	0	0	0	0	1	0	0	0	4316	1609	56	4	1328	4	DCLK1	13	36445384	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08		36445384	78724494	70	30407											
ITGBL1	9358	broad.mit.edu	37	chr13	102220132	102220133	+	In_Frame_Ins	INS	-	-	ACATACTCTTAACAG													agtacccaactaactgtgacINSttgacaaagaagaaaagtaa							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:102220132_102220133insACATACTCTTAACAG	ENST00000376180.3	+	3	618_619	c.399_400insACATACTCTTAACAG	c.(400-402)ttg>ACATACTCTTAACAGttg	p.133_134insTYS*Q	ITGBL1_ENST00000545560.2_5'UTR|ITGBL1_ENST00000376162.3_In_Frame_Ins_p.40_41insTYS*Q	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	133	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTAACTGTGACTTGACAAAGAA	0.431													False	0	False	13:102220132	0	ACATACTCTTAACAG	102220133	-	ACATACTCTTAACAG	102220132	7	5	105	1	0	1	1	0	0	0	0	0	7952	564	20	0	409	0	ITGBL1	13	102220132	In_Frame_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	65774748	102220132	12949746	71	30408											
FAM155A	728215	broad.mit.edu	37	chr13	108518385	108518385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggcgcacaccgcgtccGcattctccaccgtgaagcac	9	18	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	187						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CACCGCGTCCGCATTCTCCAC	0.652													False	0	False	13:108518385	0	A	108518385	G	A	108518385	3	1	105	1	0	0	0	0	1	0	0	0	5501	1087	38	1	828	1	FAM155A	13	108518385	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	6298253	108518385	6651493	72	30409											
AHNAK2	113146	broad.mit.edu	37	chr14	105417866	105417866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtccccgtccagctgtgCgccatccaacttggctcccg	10	18	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr14:105417866C>T	ENST00000333244.5	-	7	4041	c.3922G>A	c.(3922-3924)Gca>Aca	p.A1308T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1308						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGCTGTGCGCCATCCAAC	0.597													False	0	False	14:105417866	0	T	105417866	C	T	105417866	3	4	105	1	0	0	0	0	1	0	0	0	415	768	27	1	13469	1	AHNAK2	14	105417866	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		105417866	1931674	73	30410											
TYRO3	7301	broad.mit.edu	37	chr15	41857341	41857342	+	Splice_Site	INS	-	-	G													cagtcctgtacagttcaggtINSaggctctccgggccgggcca							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579													False	0	False	15:41857341	0	G	41857342	-	G	41857341	8	5	105	1	0	1	1	0	0	0	1	0	16898	1652	57	0	807	0	TYRO3	15	41857341	Splice_Site	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08		41857341	60674051	74	30411											
DMXL2	23312	broad.mit.edu	37	chr15	51868307	51868308	+	Frame_Shift_Del	DEL	AG	AG	-													acttggatgtttccatgcttAgcaccaggaatgatctgtac					rs140441868	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:51868307_51868308delAG	ENST00000251076.5	-	2	445_446	c.158_159delCT	c.(157-159)gctfs	p.A53fs	DMXL2_ENST00000449909.3_Frame_Shift_Del_p.A53fs|DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000543779.2_Frame_Shift_Del_p.A53fs	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	53						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTCCATGCTTAGCACCAGGAAT	0.327													False	1	False	15:51868307	0	-	51868308	AG	-	51868307	7	5	105	1	0	1	0	1	0	0	0	0	4625	407	15	0	9122	0	DMXL2	15	51868307	Frame_Shift_Del	DEL	AG	TCGA-IB-A5ST-01A-11D-A32N-08	10010966	51868307	50663085	75	30412											
TLN2	83660	broad.mit.edu	37	chr15	63053934	63053934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagtgtcgcatcgccaccGcacccttgattgaagctgtg	10	12	0	2	rs143603462	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:63053934G>A	ENST00000561311.1	+	37	4923	c.4693G>A	c.(4693-4695)Gca>Aca	p.A1565T	TLN2_ENST00000472902.1_5'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.A1565T			Q9Y4G6	TLN2_HUMAN	talin 2	1565					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CATCGCCACCGCACCCTTGAT	0.522													False	0	False	15:63053934	0	A	63053934	G	A	63053934	3	1	105	1	0	0	0	0	1	0	0	0	16030	1087	38	1	4831	1	TLN2	15	63053934	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	11185627	63053934	39477458	76	30413											
CSPG4	1464	broad.mit.edu	37	chr15	75968972	75968972	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaccacccggagctgctgcTggctcagtgaggagcgcccc	13	15	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1963	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGCTGCTGCTGGCTCAGTGA	0.672													False	0	True	15:75968972	0	A	75968972	T	A	75968972	3	1	105	1	0	0	0	0	1	0	0	0	3985	1580	55	5	1084	5	CSPG4	15	75968972	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	12915038	75968972	26562420	77	30414											
ANKS4B	257629	broad.mit.edu	37	chr16	21261762	21261762	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agacatctcagatagcaagaGagagtttggttttaaactgc	10	6	1	4			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	292										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GATAGCAAGAGAGAGTTTGGT	0.458													False	0	True	16:21261762	0	C	21261762	G	C	21261762	3	2	105	1	0	0	0	0	1	0	0	0	691	942	33	5	881	5	ANKS4B	16	21261762	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		21261762	69092991	78	30415											
ITGAD	3681	broad.mit.edu	37	chr16	31434506	31434506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgaaagaggctgagcatcGataccgtgtgagagtctagg	14	6	1	4			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	951					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.R951Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGAGCATCGATACCGTGTG	0.498													False	0	False	16:31434506	0	A	31434506	G	A	31434506	3	1	105	1	0	0	0	0	1	0	0	0	7934	1058	37	1	2946	1	ITGAD	16	31434506	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	10172744	31434506	58920247	79	30416											
LPCAT2	54947	broad.mit.edu	37	chr16	55579653	55579653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttgtctttcagtttatgCcagttcaagtaccaaatgat	6	7	3	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	287					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TCAGTTTATGCCAGTTCAAGT	0.289													False	0	False	16:55579653	0	T	55579653	C	T	55579653	3	4	105	1	0	0	0	0	1	0	0	0	8973	739	26	2	893	2	LPCAT2	16	55579653	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	24145147	55579653	34775100	80	30417											
MYBBP1A	10514	broad.mit.edu	37	chr17	4453441	4453441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggagaaacatggcccGcagccaggccacatagccct	12	14	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	411	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AACATGGCCCGCAGCCAGGCC	0.597													False	0	True	17:4453441	0	A	4453441	G	A	4453441	3	1	105	1	0	0	0	0	1	0	0	0	10075	1086	38	1	2867	1	MYBBP1A	17	4453441	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		4453441	76741769	81	30418											
ENO3	2027	broad.mit.edu	37	chr17	4857048	4857048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggcgtgtccttggccGtgtgtaaggcgggagcagct	17	10	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:4857048G>A	ENST00000323997.6	+	6	484	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	ENO3_ENST00000519584.1_Missense_Mutation_p.V75M|ENO3_ENST00000518175.1_Missense_Mutation_p.V118M	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	118					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GTCCTTGGCCGTGTGTAAGGC	0.612													False	0	True	17:4857048	0	A	4857048	G	A	4857048	3	1	105	1	0	0	0	0	1	0	0	0	5155	1145	40	1	370	1	ENO3	17	4857048	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	403607	4857048	76338162	82	30419											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs121912651		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	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)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	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)			False	0	False	17:7577539	0	A	7577539	G	A	7577539	3	1	105	1	0	0	0	0	1	0	0	0	16464	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	2720491	7577539	73617671	83	30420											
MAP2K3	5606	broad.mit.edu	37	chr17	21204188	21204188	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagtccttccctgcagcgGatccgggccaccgtgaactc	12	16	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	94	Protein kinase.		R -> L (in dbSNP:rs56067280).		activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCCTGCAGCGGATCCGGGCCA	0.612													False	0	False	17:21204188	0	A	21204188	G	A	21204188	2	1	105	1	0	0	0	0	0	0	0	1	9305	1161	41	2		2	MAP2K3	17	21204188	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	13626649	21204188	59991022	84	30421			2	18		2	2	31	G		9.593578e-05
MAP2K3	5606	broad.mit.edu	37	chr17	21204218	21204218	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accgtgaactcacaggagcaGaagcggctgctcatggacct	12	12	2	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	104	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CACAGGAGCAGAAGCGGCTGC	0.587													False	0	False	17:21204218	0	A	21204218	G	A	21204218	2	1	105	1	0	0	0	0	0	0	0	1	9305	933	33	2		2	MAP2K3	17	21204218	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	30	21204218	59990992	85	30422			2	18		2	2	31	G		9.593578e-05
TMPRSS9	360200	broad.mit.edu	37	chr19	2396631	2396631	+	Frame_Shift_Del	DEL	T	T	-													cggcgggagacctcggactaTcaccgcacgctgacgcccac							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:2396631delT	ENST00000332578.3	+	2	237	c.237delT	c.(235-237)tatfs	p.Y79fs	TMPRSS9_ENST00000592650.1_3'UTR	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	79					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGGACTATCACCGCACGC	0.672													False	1	False	19:2396631	0	-	2396631	T	-	2396631	7	5	105	1	0	1	0	1	0	0	0	0	16335	1442	50	0	243	0	TMPRSS9	19	2396631	Frame_Shift_Del	DEL	T	TCGA-IB-A5ST-01A-11D-A32N-08		2396631	56732352	86	30423											
FFAR3	2865	broad.mit.edu	37	chr19	35850345	35850345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccatcctcctgcccgtgCggctggagatggctgtggtc	14	13	0	1	rs150489647		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	185						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	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	0.622													False	0	False	19:35850345	0	T	35850345	C	T	35850345	3	4	105	1	0	0	0	0	1	0	0	0	5869	759	27	1	555	1	FFAR3	19	35850345	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	33453714	35850345	23278638	87	30424											
CEACAM7	1087	broad.mit.edu	37	chr19	42190935	42190935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctcgaccgttgtgtgcGggccctggggcattttcttg	14	11	2	0	rs145571605	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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_ENST00000602225.1_Silent_p.P94P|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000338196.4_Silent_p.P94P	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	94	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CGTTGTGTGCGGGCCCTGGGG	0.443													False	0	True	19:42190935	0	A	42190935	G	A	42190935	2	1	105	1	0	0	0	0	0	0	0	1	3220	1103	39	1		1	CEACAM7	19	42190935	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	6340590	42190935	16938048	88	30425											
PSG6	5675	broad.mit.edu	37	chr19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccggtgggttagagtccGcaaagcaggacaagtcgagg	16	9	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:43411250G>A	ENST00000187910.2	-	5	1129	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000292125.2_Missense_Mutation_p.A355V|PSG6_ENST00000402603.4_Missense_Mutation_p.A262V	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448													False	0	False	19:43411250	0	A	43411250	G	A	43411250	3	1	105	1	0	0	0	0	1	0	0	0	12735	1087	38	1	290	1	PSG6	19	43411250	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	1220315	43411250	15717733	89	30426											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341591	55341591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgaggaggtgacatacgCacagttggatcactgcgttt	12	10	1	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:55341591C>T	ENST00000391728.4	+	9	1229	c.1196C>T	c.(1195-1197)gCa>gTa	p.A399V	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A382V|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A399V|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A304V|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A382V	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GTGACATACGCACAGTTGGAT	0.517													False	0	False	19:55341591	0	T	55341591	C	T	55341591	3	4	105	1	0	0	0	0	1	0	0	0	8370	710	25	2	1230	2	KIR3DL1	19	55341591	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	11930341	55341591	3787392	90	30427											
SLC32A1	140679	broad.mit.edu	37	chr20	37356192	37356192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttgtgtgctgctacaccgGcaagatcctcatcgcgtgcc	11	14	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	163					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGCTACACCGGCAAGATCCTC	0.637													False	0	False	20:37356192	0	A	37356192	G	A	37356192	3	1	105	1	0	0	0	0	1	0	0	0	14645	1203	42	2	494	2	SLC32A1	20	37356192	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		37356192	25669328	91	30428											
NOL12	79159	broad.mit.edu	37	chr22	38084889	38084889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggaccggttggtgacaGcaaagacggagtcggtgcag	17	8	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:38084889G>A	ENST00000359114.4	+	4	341	c.271G>A	c.(271-273)Gca>Aca	p.A91T	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	91						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					GTTGGTGACAGCAAAGACGGA	0.642													False	0	False	22:38084889	0	A	38084889	G	A	38084889	3	1	105	1	0	0	0	0	1	0	0	0	10590	971	34	2	285	2	NOL12	22	38084889	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		38084889	13219677	92	30429											
CELSR1	9620	broad.mit.edu	37	chr22	46806347	46806347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgtccacatttttgccGtcgactgacaggttccgcat	9	13	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:46806347G>A	ENST00000262738.3	-	7	4880	c.4881C>T	c.(4879-4881)gaC>gaT	p.D1627D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1627	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATTTTTGCCGTCGACTGACA	0.632													False	0	False	22:46806347	0	A	46806347	G	A	46806347	2	1	105	1	0	0	0	0	0	0	0	1	3244	1136	40	1		1	CELSR1	22	46806347	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	8721458	46806347	4498219	93	30430											
MXRA5	25878	broad.mit.edu	37	chrX	3242386	3242386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtagcaccttcttggccGtactctgacgtcggttcagc	10	12	3	1	rs146759954	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	447						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCTTGGCCGTACTCTGACG	0.488													False	0	False	X:3242386	0	A	3242386	G	A	3242386	3	1	105	1	0	0	0	0	1	0	0	0	10070	1145	40	1	7158	1	MXRA5	23	3242386	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		3242386	152028174	94	30431											
CA5B	11238	broad.mit.edu	37	chrX	15768189	15768189	+	Frame_Shift_Del	DEL	C	C	-													gggtcattcttcaagcctctCcaggcaaattgctgtggaga							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:15768189delC	ENST00000318636.3	+	2	179	c.43delC	c.(43-45)ccafs	p.P15fs	CA5B_ENST00000380313.1_3'UTR|CA5B_ENST00000454127.2_Frame_Shift_Del_p.P15fs	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	15					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	p.P15A(1)		endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					TCAAGCCTCTCCAGGCAAATT	0.468													False	2	False	X:15768189	0	-	15768189	C	-	15768189	7	5	105	1	0	1	0	1	0	0	0	0	2540	855	30	0	45	0	CA5B	23	15768189	Frame_Shift_Del	DEL	C	TCGA-IB-A5ST-01A-11D-A32N-08	12525803	15768189	139502371	95	30432											
ZNF645	158506	broad.mit.edu	37	chrX	22292036	22292036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagttactcctaactcggttCgtagccaagtgccagctcta	8	12	1	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	310	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TAACTCGGTTCGTAGCCAAGT	0.468													False	0	False	X:22292036	0	T	22292036	C	T	22292036	3	4	105	1	0	0	0	0	1	0	0	0	18144	884	31	1	930	1	ZNF645	23	22292036	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	6523847	22292036	132978524	96	30433											
CXorf57	55086	broad.mit.edu	37	chrX	105855530	105855530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtaactgtgctggccGtccagaggtacctgttagag	13	10	0	2	rs146201497		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	74										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TGTGCTGGCCGTCCAGAGGTA	0.567													False	0	False	X:105855530	0	A	105855530	G	A	105855530	3	1	105	1	0	0	0	0	1	0	0	0	4138	1145	40	1	222	1	CXorf57	23	105855530	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	83563494	105855530	49415030	97	30434											
CXorf56	63932	broad.mit.edu	37	chrX	118699217	118699217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactaggaccatctggccGcacaaacagtagtaaacatg	9	11	1	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	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	34							protein binding			cervix(1)|endometrium(2)|lung(7)	10						CCATCTGGCCGCACAAACAGT	0.577													False	0	False	X:118699217	0	A	118699217	G	A	118699217	2	1	105	1	0	0	0	0	0	0	0	1	4137	1079	38	1		1	CXorf56	23	118699217	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	12843687	118699217	36571343	98	30435											
FAM122B	159090	broad.mit.edu	37	chrX	133927918	133927919	+	Frame_Shift_Ins	INS	-	-	T													aggttggaaaacctgtgaaaINSggtcactgaaaaaaacaaaa							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:133927918_133927919insT	ENST00000370790.1	-	2	1031_1032	c.103_104insA	c.(103-105)cttfs	p.L35fs	FAM122B_ENST00000343004.5_Frame_Shift_Ins_p.L35fs|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000298090.6_Frame_Shift_Ins_p.L35fs|FAM122B_ENST00000486347.1_Frame_Shift_Ins_p.L35fs	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	35										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					AACCTGTGAAAGGTCACTGAAA	0.327													False	0	True	X:133927918	0	T	133927919	-	T	133927918	7	5	105	1	0	1	1	0	0	0	0	0	5456	72	3	0	809	0	FAM122B	23	133927918	Frame_Shift_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	15228701	133927918	21342642	99	30436	370	2									
FAM122B	159090	broad.mit.edu	37	chrX	133927920	133927921	+	Frame_Shift_Ins	INS	-	-	AGTTCTTTCTTAAAATGATGTGCTA													gttggaaaacctgtgaaaggINStcactgaaaaaaacaaaaac							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:133927920_133927921insAGTTCTTTCTTAAAATGATGTGCTA	ENST00000370790.1	-	2	1029_1030	c.101_102insTAGCACATCATTTTAAGAAAGAACT	c.(100-102)gacfs	p.-34fs	FAM122B_ENST00000343004.5_Frame_Shift_Ins_p.-34fs|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000298090.6_Frame_Shift_Ins_p.-34fs|FAM122B_ENST00000486347.1_Frame_Shift_Ins_p.-34fs	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CCTGTGAAAGGTCACTGAAAAA	0.322													False	0	False	X:133927920	0	AGTTCTTTCTTAAAATGATGTGCTA	133927921	-	AGTTCTTTCTTAAAATGATGTGCTA	133927920	7	5	105	1	0	1	1	0	0	0	0	0	5456	1252	44	0	811	0	FAM122B	23	133927920	Frame_Shift_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	2	133927920	21342640	100	30437	370	2									
HMGB3	3149	broad.mit.edu	37	chrX	150156378	150156378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaataaagaaactgttt	18	1	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:150156378G>T	ENST00000325307.7	+	5	690	c.594G>T	c.(592-594)gaG>gaT	p.E198D	HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaTGAATAAA	0.463													False	0	True	X:150156378	0	T	150156378	G	T	150156378	3	4	105	1	0	0	0	0	1	0	0	0	7274	991	35	3	608	3	HMGB3	23	150156378	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	16228458	150156378	5114182	101	30438											
AKR7A3	22977	broad.mit.edu	37	chr1	19615114	19615136	+	Frame_Shift_Del	DEL	TGCGGCGCTGGTGGGCGCGTCCA	TGCGGCGCTGGTGGGCGCGTCCA	-													tccaggaaggcgcgcgtgacTgcggcgctggtgggcgcgtc							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	TGCGGCGCTGGTGGGCGCGTCCA	TGCGGCGCTGGTGGGCGCGTCCA	-	-	TGCGGCGCTGGTGGGCGCGTCCA	TGCGGCGCTGGTGGGCGCGTCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:19615114_19615136delTGCGGCGCTGGTGGGCGCGTCCA	ENST00000361640.4	-	1	608_630	c.68_90delTGGACGCGCCCACCAGCGCCGCA	c.(67-90)atggacgcgcccaccagcgccgcafs	p.MDAPTSAA23fs		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	23					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCGCGTGACTGCGGCGCTGGTGGGCGCGTCCATGCGGCGCCC	0.722													False	1	True	1:19615114	0	-	19615136	TGCGGCGCTGGTGGGCGCGTCCA	-	19615114	7	5	106	1	0	1	0	1	0	0	0	0	476	1567	55	0	933	0	AKR7A3	1	19615114	Frame_Shift_Del	DEL	TGCGGCGCTGGTGGGCGCGTCCA	TCGA-IB-A6UF-01A-23D-A33T-08		19615114	229635507	1	30439											
LUZP1	7798	broad.mit.edu	37	chr1	23418504	23418504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgatgatggctctagaccGcaacgcctctctggggctaa	11	11	2	3	rs146031719	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:23418504G>A	ENST00000302291.4	-	4	3052	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W|LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	751						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCTAGACCGCAACGCCTCT	0.478													False	0	False	1:23418504	0	A	23418504	G	A	23418504	3	1	106	1	0	0	0	0	1	0	0	0	9148	1086	38	1	987	1	LUZP1	1	23418504	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	3803390	23418504	225832117	2	30440											
ERMAP	114625	broad.mit.edu	37	chr1	43296629	43296629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatgaagatctgatgccGgaatataaggggaggacggt	16	5	1	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:43296629G>A	ENST00000328249.3	+	1	1044	c.6G>A	c.(4-6)ccG>ccA	p.P2P	ERMAP_ENST00000372517.2_Silent_p.P92P|ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Silent_p.P92P			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	92						integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCTGATGCCGGAATATAAGG	0.572													False	0	False	1:43296629	0	A	43296629	G	A	43296629	2	1	106	1	0	0	0	0	0	0	0	1	5266	1103	39	1		1	ERMAP	1	43296629	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	19878125	43296629	205953992	3	30441											
PTPRF	5792	broad.mit.edu	37	chr1	44054537	44054537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgggggccgaggagcTcaccaaggaggatgagatgc	18	7	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:44054537T>C	ENST00000359947.4	+	8	1155	c.815T>C	c.(814-816)cTc>cCc	p.L272P	PTPRF_ENST00000372413.3_Missense_Mutation_p.L272P|PTPRF_ENST00000372414.3_Missense_Mutation_p.L272P|PTPRF_ENST00000438120.1_Missense_Mutation_p.L272P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	272	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCGAGGAGCTCACCAAGGAG	0.622													False	0	False	1:44054537	0	C	44054537	T	C	44054537	3	2	106	1	0	0	0	0	1	0	0	0	12880	1551	54	4	837	4	PTPRF	1	44054537	Missense_Mutation	SNP	T	TCGA-IB-A6UF-01A-23D-A33T-08	757908	44054537	205196084	4	30442											
CYP2J2	1573	broad.mit.edu	37	chr1	60359496	60359496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttctccgaggcatgcccGctttcctgtaagacaaaatc	8	13	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:60359496G>A	ENST00000371204.3	-	9	1379	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	446					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AGGCATGCCCGCTTTCCTGTA	0.443													False	0	True	1:60359496	0	A	60359496	G	A	60359496	3	1	106	1	0	0	0	0	1	0	0	0	4197	1086	38	1	176	1	CYP2J2	1	60359496	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	16304959	60359496	188891125	5	30443											
RSBN1	54665	broad.mit.edu	37	chr1	114308998	114308998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagtagatatcattgtcGcaaagctgaattctagcata	8	6	2	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:114308998G>A	ENST00000261441.5	-	7	2076	c.2013C>T	c.(2011-2013)tgC>tgT	p.C671C	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	671						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATCATTGTCGCAAAGCTGAA	0.418													False	0	False	1:114308998	0	A	114308998	G	A	114308998	2	1	106	1	0	0	0	0	0	0	0	1	13775	1079	38	1		1	RSBN1	1	114308998	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	53949502	114308998	134941623	6	30444											
ZNF687	57592	broad.mit.edu	37	chr1	151259929	151259929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtccaaaggtggtgagcGtacagttgggtgatggtaca	17	5	0	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:151259929G>A	ENST00000368879.2	+	2	1260	c.1162G>A	c.(1162-1164)Gta>Ata	p.V388I		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGGTGAGCGTACAGTTGGG	0.597													False	0	False	1:151259929	0	A	151259929	G	A	151259929	3	1	106	1	0	0	0	0	1	0	0	0	18175	1145	40	1	1164	1	ZNF687	1	151259929	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	36950931	151259929	97990692	7	30445											
COPA	1314	broad.mit.edu	37	chr1	160302256	160302256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagaaatatcccaaacgcGcacagtctggtccaggctgg	10	13	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:160302256G>A	ENST00000241704.7	-	6	707	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	COPA_ENST00000368069.3_Missense_Mutation_p.R160C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	160					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCAAACGCGCACAGTCTGG	0.483													False	0	False	1:160302256	0	A	160302256	G	A	160302256	3	1	106	1	0	0	0	0	1	0	0	0	3750	1087	38	1	3335	1	COPA	1	160302256	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	9042327	160302256	88948365	8	30446											
TOMM40L	84134	broad.mit.edu	37	chr1	161197719	161197719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcagtttgatggcgagtatCggggagatgactacacagcc	15	8	0	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:161197719C>T	ENST00000367988.3	+	6	693	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	TOMM40L_ENST00000367987.1_Missense_Mutation_p.R142W|TOMM40L_ENST00000545897.1_Missense_Mutation_p.R108W|TOMM40L_ENST00000474486.1_3'UTR	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	142					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGCGAGTATCGGGGAGATGA	0.517											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:161197719	0	T	161197719	C	T	161197719	3	4	106	1	0	0	0	0	1	0	0	0	16441	875	31	1	442	1	TOMM40L	1	161197719	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	895463	161197719	88052902	9	30447											
RGS2	5997	broad.mit.edu	37	chr1	192779364	192779364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcctgggaagcccaaaaCcggcaaaaaaagcaaacagc	8	12	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:192779364C>T	ENST00000235382.5	+	2	210	c.179C>T	c.(178-180)aCc>aTc	p.T60I	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	60	Necessary for membrane association.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						AAGCCCAAAACCGGCAAAAAA	0.358													False	0	True	1:192779364	0	T	192779364	C	T	192779364	3	4	106	1	0	0	0	0	1	0	0	0	13381	507	18	2	185	2	RGS2	1	192779364	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	31581645	192779364	56471257	10	30448											
LGR6	59352	broad.mit.edu	37	chr1	202287853	202287853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgtcacgcccgaggccGtcaagtctgtcctgctggtg	12	15	3	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:202287853G>A	ENST00000367278.3	+	18	2511	c.2422G>A	c.(2422-2424)Gtc>Atc	p.V808I	LGR6_ENST00000255432.7_Missense_Mutation_p.V756I|LGR6_ENST00000439764.2_Missense_Mutation_p.V669I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	808						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCCCGAGGCCGTCAAGTCTGT	0.647													False	0	False	1:202287853	0	A	202287853	G	A	202287853	3	1	106	1	0	0	0	0	1	0	0	0	8810	1145	40	1	2639	1	LGR6	1	202287853	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	9508489	202287853	46962768	11	30449											
ELK4	2005	broad.mit.edu	37	chr1	205589560	205589560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaattgaaatggtggcaGcaacaggttcaaccggtggc	14	9	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:205589560G>A	ENST00000357992.4	-	3	953	c.614C>T	c.(613-615)gCt>gTt	p.A205V	ELK4_ENST00000289703.4_Missense_Mutation_p.A205V	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AATGGTGGCAGCAACAGGTTC	0.478			T	SLC45A3	prostate								False	0	False	1:205589560	0	A	205589560	G	A	205589560	3	1	106	1	0	0	0	0	1	0	0	0	5093	971	34	2	831	2	ELK4	1	205589560	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	3301707	205589560	43661061	12	30450											
CTSE	1510	broad.mit.edu	37	chr1	206331027	206331027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccaacccacaggacttcGtggatggaatgcagttctgc	10	11	1	0	rs145069780	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:206331027G>A	ENST00000361052.3	+	9	1166	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	CTSE_ENST00000432969.2_Silent_p.S222S|CTSE_ENST00000358184.2_Missense_Mutation_p.V345M|CTSE_ENST00000360218.2_Silent_p.S297S			P14091	CATE_HUMAN	cathepsin E	350					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			ACAGGACTTCGTGGATGGAAT	0.552													False	0	True	1:206331027	0	A	206331027	G	A	206331027	3	1	106	1	0	0	0	0	1	0	0	0	4058	1145	40	1	1067	1	CTSE	1	206331027	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	741467	206331027	42919594	13	30451											
FAM71A	149647	broad.mit.edu	37	chr1	212798637	212798637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgagaaacaacagctgCgcctgaagttcgccactggc	10	13	0	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:212798637C>T	ENST00000294829.3	+	1	849	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	140										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACAACAGCTGCGCCTGAAGTT	0.483													False	0	False	1:212798637	0	T	212798637	C	T	212798637	3	4	106	1	0	0	0	0	1	0	0	0	5647	768	27	1	420	1	FAM71A	1	212798637	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	6467610	212798637	36451984	14	30452											
MTR	4548	broad.mit.edu	37	chr1	237057764	237057764	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgtttgccgttgcctgCtttggggtagaagagctgag	16	8	0	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:237057764C>A	ENST00000366577.5	+	30	3706	c.3312C>A	c.(3310-3312)tgC>tgA	p.C1104*	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Nonsense_Mutation_p.C1053*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1104	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CCGTTGCCTGCTTTGGGGTAG	0.582													False	0	True	1:237057764	0	A	237057764	C	A	237057764	4	1	106	1	0	0	0	0	0	1	0	0	10025	805	28	3	3430	3	MTR	1	237057764	Nonsense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	24259127	237057764	12192857	15	30453											
TMEM214	54867	broad.mit.edu	37	chr2	27259437	27259437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtcaagcaggttttgCcaacctcaccgagggactga	12	12	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:27259437C>T	ENST00000238788.9	+	6	865	c.803C>T	c.(802-804)gCc>gTc	p.A268V	TMEM214_ENST00000404032.3_Missense_Mutation_p.A223V	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	268						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCAGGTTTTGCCAACCTCACC	0.567													False	0	False	2:27259437	0	T	27259437	C	T	27259437	3	4	106	1	0	0	0	0	1	0	0	0	16219	739	26	2	825	2	TMEM214	2	27259437	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		27259437	215939936	16	30454											
SNRNP200	23020	broad.mit.edu	37	chr2	96967391	96967391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcgcctttccttgtcccGcagcttttcattctttagaa	5	13	2	1	rs150957097		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:96967391G>A	ENST00000323853.5	-	4	522	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R149W	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	149						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCCTTGTCCCGCAGCTTTTCA	0.463													False	0	True	2:96967391	0	A	96967391	G	A	96967391	3	1	106	1	0	0	0	0	1	0	0	0	14932	1086	38	1	6133	1	SNRNP200	2	96967391	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	69707954	96967391	146231982	17	30455											
UNC50	25972	broad.mit.edu	37	chr2	99226304	99226304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggcaagacacacagccGgagcgaaacgctacaaatat	10	11	0	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:99226304G>A	ENST00000409975.1	+	1	1263	c.133G>A	c.(133-135)Gga>Aga	p.G45R	UNC50_ENST00000357765.2_Missense_Mutation_p.G28R|UNC50_ENST00000409347.1_Missense_Mutation_p.G45R			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	28					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACACACAGCCGGAGCGAAACG	0.483													False	0	False	2:99226304	0	A	99226304	G	A	99226304	3	1	106	1	0	0	0	0	1	0	0	0	17074	1117	39	1	84	1	UNC50	2	99226304	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	2258913	99226304	143973069	18	30456											
LYPD6B	130576	broad.mit.edu	37	chr2	150071135	150071135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactaatgcagtgtttgccGtaatgcacgctcagagaaca	9	10	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:150071135G>A	ENST00000409642.3	+	7	936	c.535G>A	c.(535-537)Gta>Ata	p.V179I	LYPD6B_ENST00000409029.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000409876.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000280115.7_Missense_Mutation_p.V179I|LYPD6B_ENST00000498249.1_3'UTR	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	155						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						AGTGTTTGCCGTAATGCACGC	0.483													False	0	False	2:150071135	0	A	150071135	G	A	150071135	3	1	106	1	0	0	0	0	1	0	0	0	9178	1145	40	1	557	1	LYPD6B	2	150071135	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	50844831	150071135	93128238	19	30457											
LRP2	4036	broad.mit.edu	37	chr2	170044768	170044768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaccacagtcattgtgccGgtcacacctgtatcatgaga	9	12	4	1	rs142093111	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:170044768G>A	ENST00000263816.3	-	49	9325	c.9040C>T	c.(9040-9042)Cgg>Tgg	p.R3014W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3014	LDL-receptor class A 23.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCATTGTGCCGGTCACACCTG	0.468													False	0	False	2:170044768	0	A	170044768	G	A	170044768	3	1	106	1	0	0	0	0	1	0	0	0	9018	1115	39	1	5051	1	LRP2	2	170044768	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	19973633	170044768	73154605	20	30458											
HOXD10	3236	broad.mit.edu	37	chr2	176981813	176981813	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagacagttggacagatccGaacagatcttgtcgaataga	11	7	1	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:176981813G>A	ENST00000249501.4	+	1	507	c.252G>A	c.(250-252)ccG>ccA	p.P84P	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	84						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGACAGATCCGAACAGATCTT	0.453													False	0	False	2:176981813	0	A	176981813	G	A	176981813	2	1	106	1	0	0	0	0	0	0	0	1	7366	1045	37	1		1	HOXD10	2	176981813	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	6937045	176981813	66217560	21	30459											
CXCR2	3579	broad.mit.edu	37	chr2	219000390	219000390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagacctgtgagcgccGcaatcacatcgaccgggctc	12	15	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:219000390G>A	ENST00000318507.2	+	3	1293	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	289					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGTGAGCGCCGCAATCACATC	0.597													False	0	False	2:219000390	0	A	219000390	G	A	219000390	3	1	106	1	0	0	0	0	1	0	0	0	4116	1087	38	1	868	1	CXCR2	2	219000390	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	42018577	219000390	24198983	22	30460											
STK16	8576	broad.mit.edu	37	chr2	220113194	220113194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgatgaccgtggacccGcatcagcgtcctcacattcc	9	15	2	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:220113194G>A	ENST00000409638.3	+	8	1003	c.831G>A	c.(829-831)ccG>ccA	p.P277P	STK16_ENST00000396738.2_Silent_p.P277P|STK16_ENST00000409260.1_Silent_p.P322P|STK16_ENST00000409743.1_Silent_p.P245P|STK16_ENST00000409516.3_Silent_p.P159P	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	277	Protein kinase.		P -> L (in dbSNP:rs35454203).		protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGGACCCGCATCAGCGTC	0.567													False	0	True	2:220113194	0	A	220113194	G	A	220113194	2	1	106	1	0	0	0	0	0	0	0	1	15371	1074	38	1		1	STK16	2	220113194	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1112804	220113194	23086179	23	30461											
SAG	6295	broad.mit.edu	37	chr2	234237147	234237147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgtgcgattactgatccGcaaagtacagcatgccccac	8	15	0	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:234237147G>A	ENST00000409110.1	+	8	766	c.536G>A	c.(535-537)cGc>cAc	p.R179H	SAG_ENST00000449594.2_Missense_Mutation_p.R45H	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	179					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TTACTGATCCGCAAAGTACAG	0.602													False	0	False	2:234237147	0	A	234237147	G	A	234237147	3	1	106	1	0	0	0	0	1	0	0	0	13887	1087	38	1	562	1	SAG	2	234237147	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	14123953	234237147	8962226	24	30462											
LHFPL4	375323	broad.mit.edu	37	chr3	9547694	9547694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcagcaggtctgtttgCcggttgcccagcacgaaggc	13	13	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:9547694C>T	ENST00000287585.6	-	3	885	c.600G>A	c.(598-600)cgG>cgA	p.R200R		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	200						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGTCTGTTTGCCGGTTGCCCA	0.657													False	0	False	3:9547694	0	T	9547694	C	T	9547694	2	4	106	1	0	0	0	0	0	0	0	1	8819	726	26	2		2	LHFPL4	3	9547694	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		9547694	188474736	25	30463											
SCN11A	11280	broad.mit.edu	37	chr3	38938452	38938452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattccccgcagaggatgcGgaataccactaggaaggagt	12	11	0	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:38938452G>A	ENST00000450244.1	-	14	2485	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R763C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R763C|SCN11A_ENST00000302328.3_Missense_Mutation_p.R763C			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	763					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGAGGATGCGGAATACCACT	0.473													False	0	False	3:38938452	0	A	38938452	G	A	38938452	3	1	106	1	0	0	0	0	1	0	0	0	13994	1116	39	1	3140	1	SCN11A	3	38938452	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	29390758	38938452	159083978	26	30464											
CCR2	729230	broad.mit.edu	37	chr3	46401296	46401296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcgatggtcgtggaaaagGaaagtcaattggcagagccc	13	9	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:46401296G>A	ENST00000292301.4	+	3	1555	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	CCR2_ENST00000400888.2_Missense_Mutation_p.G357E	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	357					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CGTGGAAAAGGAAAGTCAATT	0.493													False	0	True	3:46401296	0	A	46401296	G	A	46401296	3	1	106	1	0	0	0	0	1	0	0	0	2964	1174	41	2	1218	2	CCR2	3	46401296	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	7462844	46401296	151621134	27	30465											
PARP15	165631	broad.mit.edu	37	chr3	122345673	122345673	+	Splice_Site	DEL	G	G	-													gtcattaaatttttttttcaGgaaatgccggaaaaaaccct							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:122345673delG	ENST00000464300.2	+	9	1297		c.e9-1		PARP15_ENST00000310366.4_Splice_Site|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000465304.1_Splice_Site	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TTTTTTTTCAGGAAATGCCGG	0.373													False	2	False	3:122345673	0	-	122345673	G	-	122345673	8	5	106	1	0	1	0	1	0	0	1	0	11527	1014	35	0	1334	0	PARP15	3	122345673	Splice_Site	DEL	G	TCGA-IB-A6UF-01A-23D-A33T-08	75944377	122345673	75676757	28	30466											
OSBPL11	114885	broad.mit.edu	37	chr3	125298799	125298799	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattacagctcctgcaagctGcaaagttcctctaggtttct	7	11	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:125298799G>A	ENST00000296220.5	-	3	608	c.319C>T	c.(319-321)Cag>Tag	p.Q107*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	107	PH.				lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CCTGCAAGCTGCAAAGTTCCT	0.403													False	0	False	3:125298799	0	A	125298799	G	A	125298799	4	1	106	1	0	0	0	0	0	1	0	0	11344	1328	46	2	1968	2	OSBPL11	3	125298799	Nonsense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	2953126	125298799	72723631	29	30467											
C3orf22	152065	broad.mit.edu	37	chr3	126268739	126268739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctggacagccctgccGccttgctggtctgggggcag	16	15	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:126268739G>A	ENST00000318225.2	-	4	776	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	133										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CAGCCCTGCCGCCTTGCTGGT	0.627													False	0	False	3:126268739	0	A	126268739	G	A	126268739	3	1	106	1	0	0	0	0	1	0	0	0	2231	1087	38	1	31	1	C3orf22	3	126268739	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	969940	126268739	71753691	30	30468											
MCM2	4171	broad.mit.edu	37	chr3	127337969	127337969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcagcgctgctgagcccGccatgcccaacacgtatggc	12	15	0	1	rs147793264		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:127337969G>A	ENST00000265056.7	+	13	2357	c.2113G>A	c.(2113-2115)Gcc>Acc	p.A705T	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	705					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TGCTGAGCCCGCCATGCCCAA	0.637													False	0	True	3:127337969	0	A	127337969	G	A	127337969	3	1	106	1	0	0	0	0	1	0	0	0	9453	1087	38	1	2163	1	MCM2	3	127337969	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1069230	127337969	70684461	31	30469											
ASTE1	28990	broad.mit.edu	37	chr3	130744081	130744081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgacaatttttgtgtcccGcaacttcaaatcagtgaaga	7	8	2	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:130744081G>A	ENST00000264992.3	-	3	511	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	ASTE1_ENST00000514044.1_Missense_Mutation_p.R24W	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	24					DNA repair		nuclease activity	p.R24W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTGTGTCCCGCAACTTCAAA	0.403													False	0	True	3:130744081	0	A	130744081	G	A	130744081	3	1	106	1	0	0	0	0	1	0	0	0	1066	1086	38	1	1985	1	ASTE1	3	130744081	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	3406112	130744081	67278349	32	30470											
CHRNA9	55584	broad.mit.edu	37	chr4	40351422	40351422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggcctcagaaaatgtgCccctgataggtgagtccaag	12	11	1	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:40351422C>T	ENST00000310169.2	+	4	1028	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	297					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGAAAATGTGCCCCTGATAGG	0.498													False	0	True	4:40351422	0	T	40351422	C	T	40351422	3	4	106	1	0	0	0	0	1	0	0	0	3412	739	26	2	903	2	CHRNA9	4	40351422	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		40351422	150802854	33	30471											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	106	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-IB-A6UF-01A-23D-A33T-08	83283	40434705	150719571	34	30472											
FRAS1	80144	broad.mit.edu	37	chr4	79462159	79462159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagacactactgcactgtgCggaacgtcaacatcctgagt	9	11	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:79462159C>T	ENST00000264895.6	+	74	12360	c.11920C>T	c.(11920-11922)Cgg>Tgg	p.R3974W		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3969					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTGCACTGTGCGGAACGTCAA	0.473													False	0	False	4:79462159	0	T	79462159	C	T	79462159	3	4	106	1	0	0	0	0	1	0	0	0	6084	759	27	1	12289	1	FRAS1	4	79462159	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	39027454	79462159	111692117	35	30473											
FSTL5	56884	broad.mit.edu	37	chr4	162841645	162841645	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcacagtggttttcatagAattctccgtcagatccacac	6	12	4	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:162841645A>T	ENST00000306100.5	-	4	756	c.320T>A	c.(319-321)tTc>tAc	p.F107Y	FSTL5_ENST00000379164.4_Missense_Mutation_p.F106Y|FSTL5_ENST00000427802.2_Missense_Mutation_p.F106Y|FSTL5_ENST00000536695.1_Missense_Mutation_p.F106Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	107	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTTTTCATAGAATTCTCCGTC	0.433													False	0	False	4:162841645	0	T	162841645	A	T	162841645	3	4	106	1	0	0	0	0	1	0	0	0	6122	246	9	5	2275	5	FSTL5	4	162841645	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	83379486	162841645	28312631	36	30474											
CLCN3	0	broad.mit.edu	37	chr4	170618575	170618575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgcctggtgtcgtcgacGcaagtccacgaaatttggaa	11	9	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:170618575G>A	ENST00000513761.1	+	9	1812	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	CLCN3_ENST00000504131.2_Missense_Mutation_p.R401H|CLCN3_ENST00000347613.4_Missense_Mutation_p.R418H|CLCN3_ENST00000360642.3_Missense_Mutation_p.R391H	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	418					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TGTCGTCGACGCAAGTCCACG	0.438													False	0	False	4:170618575	0	A	170618575	G	A	170618575	3	1	106	1	0	0	0	0	1	0	0	0	3487	1087	38	1	1283	1	CLCN3	4	170618575	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	7776930	170618575	20535701	37	30475											
PAPD7	11044	broad.mit.edu	37	chr5	6748605	6748605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggccggagctcctatggCgccatgcaggtgaagcaggt	16	10	0	1	rs75204452	by1000genomes	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:6748605C>T	ENST00000230859.6	+	8	867	c.738C>T	c.(736-738)ggC>ggT	p.G246G		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	246					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCTCCTATGGCGCCATGCAGG	0.537													False	0	False	5:6748605	0	T	6748605	C	T	6748605	2	4	106	1	0	0	0	0	0	0	0	1	11494	755	27	1		1	PAPD7	5	6748605	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		6748605	174166655	38	30476											
ITGA2	3673	broad.mit.edu	37	chr5	52376439	52376439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgtacctaactggggtGcaaacagacaaggtaaagat	11	7	0	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:52376439G>A	ENST00000296585.5	+	25	3170	c.3027G>A	c.(3025-3027)gtG>gtA	p.V1009V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1009					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TAACTGGGGTGCAAACAGACA	0.383													False	0	False	5:52376439	0	A	52376439	G	A	52376439	2	1	106	1	0	0	0	0	0	0	0	1	7925	1306	46	2		2	ITGA2	5	52376439	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	45627834	52376439	128538821	39	30477											
SEPT8	23176	broad.mit.edu	37	chr5	132098218	132098218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacagcctcatcatccgtGgggaactggtagatctggac	12	11	3	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:132098218G>A	ENST00000296873.7	-	5	937	c.654C>T	c.(652-654)ccC>ccT	p.P218P	SEPT8_ENST00000378719.2_Silent_p.P218P|SEPT8_ENST00000378706.1_Silent_p.P218P|SEPT8_ENST00000378701.1_Silent_p.P216P|SEPT8_ENST00000458488.2_Silent_p.P218P|SEPT8_ENST00000378699.2_Silent_p.P158P|SEPT8_ENST00000448933.1_Silent_p.P158P|SEPT8_ENST00000378721.4_Silent_p.P216P	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	218					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCATCCGTGGGGAACTGGT	0.582													False	0	True	5:132098218	0	A	132098218	G	A	132098218	2	1	106	1	0	0	0	0	0	0	0	1	14151	1335	47	2		2	SEPT8	5	132098218	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	79721779	132098218	48817042	40	30478											
PPP2CA	5515	broad.mit.edu	37	chr5	133541798	133541798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgaacctcttgcacgttggAttcttttgtcaggatttctt	8	9	4	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:133541798A>G	ENST00000481195.1	-	2	407	c.127T>C	c.(127-129)Tcc>Ccc	p.S43P	CDKL3_ENST00000609654.1_Missense_Mutation_p.S393P|CTD-2410N18.4_ENST00000518409.1_RNA|PPP2CA_ENST00000231504.5_5'UTR|CTD-2410N18.5_ENST00000519718.1_Intron|CDKL3_ENST00000609383.1_3'UTR	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCACGTTGGATTCTTTTGTC	0.378													False	0	False	5:133541798	0	G	133541798	A	G	133541798	3	3	106	1	0	0	0	0	1	0	0	0	12454	333	12	4	826	4	PPP2CA	5	133541798	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	1443580	133541798	47373462	41	30479											
PHF15	0	broad.mit.edu	37	chr5	133901907	133901907	+	Frame_Shift_Del	DEL	C	C	-													gacaacgatgaggtcaagttCaagtcattctgccaggagca							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:133901907delC	ENST00000402835.1	+	9	1326	c.1071delC	c.(1069-1071)ttcfs	p.F357fs	PHF15_ENST00000282605.4_Frame_Shift_Del_p.F357fs|PHF15_ENST00000395003.1_Frame_Shift_Del_p.F357fs|PHF15_ENST00000361895.2_Frame_Shift_Del_p.F357fs			Q9NQC1	JADE2_HUMAN		357					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTCAAGTTCAAGTCATTCT	0.567													False	1	True	5:133901907	0	-	133901907	C	-	133901907	7	5	106	1	0	1	0	1	0	0	0	0	11895	825	29	0	1101	0	PHF15	5	133901907	Frame_Shift_Del	DEL	C	TCGA-IB-A6UF-01A-23D-A33T-08	360109	133901907	47013353	42	30480											
PCDHB1	0	broad.mit.edu	37	chr5	140431291	140431291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcatttccggctccaccGcaagacgggagatttgtttg	11	10	0	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:140431291G>A	ENST00000306549.3	+	1	313	c.236G>A	c.(235-237)cGc>cAc	p.R79H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		79	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R79L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTCCACCGCAAGACGGGA	0.567													False	0	False	5:140431291	0	A	140431291	G	A	140431291	3	1	106	1	0	0	0	0	1	0	0	0	11602	1087	38	1	238	1	PCDHB1	5	140431291	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	6529384	140431291	40483969	43	30481											
PCDHGB1	0	broad.mit.edu	37	chr5	140730509	140730509	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccacccatatctggatcCgagttacggatgccaatgat	9	12	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:140730509C>T	ENST00000523390.1	+	1	682	c.682C>T	c.(682-684)Cga>Tga	p.R228*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCTGGATCCGAGTTACGGA	0.547													False	0	False	5:140730509	0	T	140730509	C	T	140730509	4	4	106	1	0	0	0	0	0	1	0	0	11630	644	23	1	684	1	PCDHGB1	5	140730509	Nonsense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	299218	140730509	40184751	44	30482											
PCDH12	51294	broad.mit.edu	37	chr5	141335933	141335933	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtcctggatgcggtatgagActtttccattaatgcccaag	10	9	0	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:141335933A>T	ENST00000231484.3	-	1	2694	c.1484T>A	c.(1483-1485)gTc>gAc	p.V495D		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	495	Cadherin 5.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGTATGAGACTTTTCCATT	0.473													False	0	False	5:141335933	0	T	141335933	A	T	141335933	3	4	106	1	0	0	0	0	1	0	0	0	11578	275	10	5	2086	5	PCDH12	5	141335933	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	605424	141335933	39579327	45	30483											
FAT2	2196	broad.mit.edu	37	chr5	150930181	150930181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgtgctgggagggcccCgagccgaggtccaattttcc	15	11	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:150930181C>T	ENST00000261800.5	-	7	4560	c.4548G>A	c.(4546-4548)tcG>tcA	p.S1516S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1516	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAGGGCCCCGAGCCGAGGT	0.532													False	0	True	5:150930181	0	T	150930181	C	T	150930181	2	4	106	1	0	0	0	0	0	0	0	1	5730	639	23	1		1	FAT2	5	150930181	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	9594248	150930181	29985079	46	30484											
FAM71B	153745	broad.mit.edu	37	chr5	156593091	156593091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctctgttgtacaattgtCgttgcaggtcccccatggag	10	12	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:156593091C>T	ENST00000302938.4	-	1	184	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	30						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTACAATTGTCGTTGCAGGTC	0.403													False	0	False	5:156593091	0	T	156593091	C	T	156593091	3	4	106	1	0	0	0	0	1	0	0	0	5648	884	31	1	1736	1	FAM71B	5	156593091	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	5662910	156593091	24322169	47	30485											
GABRP	2568	broad.mit.edu	37	chr5	170221280	170221280	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctggacattgcaagtatctCtagcatttcagagagtaaca	8	8	3	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:170221280C>G	ENST00000518525.1	+	5	682	c.218C>G	c.(217-219)tCt>tGt	p.S73C	GABRP_ENST00000265294.4_Missense_Mutation_p.S73C|GABRP_ENST00000519385.1_Missense_Mutation_p.S73C|GABRP_ENST00000519598.1_Missense_Mutation_p.S73C			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	73						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAAGTATCTCTAGCATTTCA	0.418													False	0	False	5:170221280	0	G	170221280	C	G	170221280	3	3	106	1	0	0	0	0	1	0	0	0	6216	913	32	5	228	5	GABRP	5	170221280	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	13628189	170221280	10693980	48	30486											
UNC5A	90249	broad.mit.edu	37	chr5	176301068	176301068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatcctcgtttattgccGgaagaaggaggggctggact	13	10	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:176301068G>A	ENST00000329542.4	+	7	1260	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.R289Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	329					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTTATTGCCGGAAGAAGGAG	0.622													False	0	False	5:176301068	0	A	176301068	G	A	176301068	3	1	106	1	0	0	0	0	1	0	0	0	17075	1116	39	1	1012	1	UNC5A	5	176301068	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	6079788	176301068	4614192	49	30487											
SQSTM1	8878	broad.mit.edu	37	chr5	179252186	179252186	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccgagtgtgaatttcctgaaGaacgttggggagagtgtggc	16	6	0	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:179252186G>C	ENST00000389805.4	+	5	892	c.714G>C	c.(712-714)aaG>aaC	p.K238N	SQSTM1_ENST00000360718.5_Missense_Mutation_p.K154N|SQSTM1_ENST00000376929.3_Missense_Mutation_p.K154N|SQSTM1_ENST00000402874.3_Missense_Mutation_p.K154N|SQSTM1_ENST00000510187.1_Missense_Mutation_p.K238N	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	238					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTTCCTGAAGAACGTTGGGG	0.468													False	0	False	5:179252186	0	C	179252186	G	C	179252186	3	2	106	1	0	0	0	0	1	0	0	0	15212	933	33	5	732	5	SQSTM1	5	179252186	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	2951118	179252186	1663074	50	30488											
VARS	7407	broad.mit.edu	37	chr6	31760017	31760017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttccccgggtggggttGggaggtcataggtaatgacc	15	8	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr6:31760017G>A	ENST00000375663.3	-	6	1288	c.848C>T	c.(847-849)cCa>cTa	p.P283L	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	283					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGGTGGGGTTGGGAGGTCATA	0.537													False	0	True	6:31760017	0	A	31760017	G	A	31760017	3	1	106	1	0	0	0	0	1	0	0	0	17207	1348	47	2	3046	2	VARS	6	31760017	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		31760017	139355050	51	30489											
BTNL2	56244	broad.mit.edu	37	chr6	32362627	32362627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccttagcaatgtctgcacGtggaacagcccgtggctgcc	11	14	1	0	rs144584698		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr6:32362627G>A	ENST00000454136.3	-	6	1258	c.1254C>T	c.(1252-1254)caC>caT	p.H418H	BTNL2_ENST00000544175.1_Silent_p.H141H|BTNL2_ENST00000374995.3_Silent_p.H324H|BTNL2_ENST00000374993.1_Silent_p.H418H|BTNL2_ENST00000540315.1_Silent_p.H208H|BTNL2_ENST00000414363.1_Silent_p.H208H|BTNL2_ENST00000429232.2_3'UTR			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	418						integral to membrane		p.H418H(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						ATGTCTGCACGTGGAACAGCC	0.547													False	0	False	6:32362627	0	A	32362627	G	A	32362627	2	1	106	1	0	0	0	0	0	0	0	1	1572	1136	40	1		1	BTNL2	6	32362627	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	602610	32362627	138752440	52	30490											
ASCC3	10973	broad.mit.edu	37	chr6	101248186	101248186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttattacctttgtatccGcaattccttaggatcaaagc	5	10	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr6:101248186G>A	ENST00000369162.2	-	6	1461	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	ASCC3_ENST00000522650.1_Missense_Mutation_p.R373W	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R373W(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTTGTATCCGCAATTCCTTA	0.348													False	0	False	6:101248186	0	A	101248186	G	A	101248186	3	1	106	1	0	0	0	0	1	0	0	0	1037	1086	38	1	5639	1	ASCC3	6	101248186	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	68885559	101248186	69866881	53	30491											
PDAP1	11333	broad.mit.edu	37	chr7	98997952	98997952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcgaaagctcctttggCccgtccagatccagttgtgt	9	14	0	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:98997952C>T	ENST00000350498.3	-	4	589	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	103					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	GCTCCTTTGGCCCGTCCAGAT	0.562													False	0	True	7:98997952	0	T	98997952	C	T	98997952	2	4	106	1	0	0	0	0	0	0	0	1	11681	726	26	2		2	PDAP1	7	98997952	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		98997952	60140711	54	30492											
ZAN	7455	broad.mit.edu	37	chr7	100383688	100383688	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggaggagccattcagtgcGgggacttccgatgcccctct	14	13	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:100383688G>A	ENST00000542585.1	+	0	7049				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATTCAGTGCGGGGACTTCCG	0.582													False	0	True	7:100383688	0	A	100383688	G	A	100383688	1	1	106	0	1	0	0	0	0	0	0	0	17597	1116	39	1		1	ZAN	7	100383688	RNA	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1385736	100383688	58754975	55	30493											
DGKI	9162	broad.mit.edu	37	chr7	137269964	137269964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctctaaccttacatacGccatcttcaagttcttctgg	4	13	5	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:137269964G>A	ENST00000453654.2	-	14	1193	c.654C>T	c.(652-654)ggC>ggT	p.G218G	DGKI_ENST00000446122.1_Silent_p.G518G|DGKI_ENST00000424189.2_Silent_p.G518G|DGKI_ENST00000288490.5_Silent_p.G518G			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCTTACATACGCCATCTTCAA	0.483													False	0	False	7:137269964	0	A	137269964	G	A	137269964	2	1	106	1	0	0	0	0	0	0	0	1	4501	1074	38	1		1	DGKI	7	137269964	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	36886276	137269964	21868699	56	30494											
ADRA1A	148	broad.mit.edu	37	chr8	26722237	26722237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctaggacctcgaagatggCggagaagggcagcaccgtgg	17	10	0	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:26722237C>T	ENST00000380573.3	-	2	1273	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	ADRA1A_ENST00000380587.1_Missense_Mutation_p.A84T|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A84T|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A84T|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A84T|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A84T|ADRA1A_ENST00000519229.1_Missense_Mutation_p.A84T|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A84T|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A84T|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A84T			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	84					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TCGAAGATGGCGGAGAAGGGC	0.627													False	0	False	8:26722237	0	T	26722237	C	T	26722237	3	4	106	1	0	0	0	0	1	0	0	0	334	768	27	1	1449	1	ADRA1A	8	26722237	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		26722237	119641785	57	30495											
SNTG1	54212	broad.mit.edu	37	chr8	51664572	51664572	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cccctttaggctgtcctttgGaggtataaattctctcagct	8	11	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:51664572G>C	ENST00000522124.1	+	18	1957	c.1296G>C	c.(1294-1296)tgG>tgC	p.W432C	SNTG1_ENST00000276467.5_Intron|SNTG1_ENST00000518864.1_Missense_Mutation_p.W432C|SNTG1_ENST00000517473.1_Intron	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	432					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTGTCCTTTGGAGGTATAAAT	0.333													False	0	False	8:51664572	0	C	51664572	G	C	51664572	3	2	106	1	0	0	0	0	1	0	0	0	14954	1183	41	5	1358	5	SNTG1	8	51664572	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	24942335	51664572	94699450	58	30496											
OPRK1	4986	broad.mit.edu	37	chr8	54163405	54163405	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacgaacactacggagtagaCcgccgtgatgatgaccggga	14	10	0	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:54163405C>G	ENST00000265572.3	-	2	490	c.193G>C	c.(193-195)Gtc>Ctc	p.V65L	OPRK1_ENST00000520287.1_Missense_Mutation_p.V65L	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	65					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ACGGAGTAGACCGCCGTGATG	0.701													False	0	False	8:54163405	0	G	54163405	C	G	54163405	3	3	106	1	0	0	0	0	1	0	0	0	10953	507	18	5	961	5	OPRK1	8	54163405	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	2498833	54163405	92200617	59	30497											
MOS	4342	broad.mit.edu	37	chr8	57025772	57025772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataaatgtcggctttaggcGtcacgccctctcctttcagg	9	12	3	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:57025772G>A	ENST00000311923.1	-	1	769	c.770C>T	c.(769-771)aCg>aTg	p.T257M		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	257	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GGCTTTAGGCGTCACGCCCTC	0.572													False	0	False	8:57025772	0	A	57025772	G	A	57025772	3	1	106	1	0	0	0	0	1	0	0	0	9779	1145	40	1	273	1	MOS	8	57025772	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	2862367	57025772	89338250	60	30498											
CDH17	1015	broad.mit.edu	37	chr8	95142932	95142932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctggtgacctgctggccGgaaacaacttccttccacac	9	14	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:95142932G>A	ENST00000027335.3	-	17	2444	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CDH17_ENST00000450165.2_Missense_Mutation_p.R774W|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	774	Cadherin 7.					integral to membrane	calcium ion binding	p.R774W(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGCTGGCCGGAAACAACTT	0.448													False	0	False	8:95142932	0	A	95142932	G	A	95142932	3	1	106	1	0	0	0	0	1	0	0	0	3125	1115	39	1	186	1	CDH17	8	95142932	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	38117160	95142932	51221090	61	30499											
SNTB1	6641	broad.mit.edu	37	chr8	121644818	121644818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggatggcactgaaccatgCctgggccgtggctgagtcct	14	11	0	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:121644818C>T	ENST00000395601.3	-	4	1276	c.862G>A	c.(862-864)Gca>Aca	p.A288T	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.A288T	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	288	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGAACCATGCCTGGGCCGTG	0.552													False	0	False	8:121644818	0	T	121644818	C	T	121644818	3	4	106	1	0	0	0	0	1	0	0	0	14952	739	26	2	774	2	SNTB1	8	121644818	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	26501886	121644818	24719204	62	30500											
FRMPD1	22844	broad.mit.edu	37	chr9	37708409	37708409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaggaggctctgctcaCggcaagcttttccctggtga	11	13	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:37708409C>T	ENST00000539465.1	+	4	866	c.273C>T	c.(271-273)caC>caT	p.H91H	FRMPD1_ENST00000377765.3_Silent_p.H91H|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	91	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCTCTGCTCACGGCAAGCTTT	0.493													False	0	False	9:37708409	0	T	37708409	C	T	37708409	2	4	106	1	0	0	0	0	0	0	0	1	6099	535	19	1		1	FRMPD1	9	37708409	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		37708409	103505022	63	30501											
GARNL3	84253	broad.mit.edu	37	chr9	130145778	130145778	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttttttggttcaaccttcTgcgtcagatttccagttctg	7	10	5	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:130145778T>G	ENST00000373387.4	+	23	2575	c.2223T>G	c.(2221-2223)tcT>tcG	p.S741S	GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_Silent_p.S741S|GARNL3_ENST00000435213.2_Silent_p.S719S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	741	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTCAACCTTCTGCGTCAGATT	0.388													False	0	False	9:130145778	0	G	130145778	T	G	130145778	2	3	106	1	0	0	0	0	0	0	0	1	6284	1567	55	4		4	GARNL3	9	130145778	Silent	SNP	T	TCGA-IB-A6UF-01A-23D-A33T-08	92437369	130145778	11067653	64	30502											
EHMT1	79813	broad.mit.edu	37	chr9	140671243	140671243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaccgtgacaccagtcccCgggcaggagaagggctcggc	15	14	0	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:140671243C>T	ENST00000460843.1	+	12	1992	c.1965C>T	c.(1963-1965)ccC>ccT	p.P655P	EHMT1_ENST00000334856.6_Silent_p.P624P|EHMT1_ENST00000462484.1_Silent_p.P655P|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	655					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CACCAGTCCCCGGGCAGGAGA	0.627													False	0	True	9:140671243	0	T	140671243	C	T	140671243	2	4	106	1	0	0	0	0	0	0	0	1	5013	639	23	1		1	EHMT1	9	140671243	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	10525465	140671243	542188	65	30503											
KIAA1217	56243	broad.mit.edu	37	chr10	24813298	24813298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggacgcagcccaagccGcacagtacatggctatggaa	12	13	0	0	rs141384251	by1000genomes	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:24813298G>A	ENST00000376451.2	+	8	1812	c.1552G>A	c.(1552-1554)Gca>Aca	p.A518T	KIAA1217_ENST00000458595.1_Missense_Mutation_p.A800T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A755T|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A518T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A835T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A518T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A800T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A518T			Q5T5P2	SKT_HUMAN	KIAA1217	835					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCCCAAGCCGCACAGTACAT	0.582													False	0	False	10:24813298	0	A	24813298	G	A	24813298	3	1	106	1	0	0	0	0	1	0	0	0	8266	1087	38	1	2553	1	KIAA1217	10	24813298	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		24813298	110721449	66	30504											
GAD2	2572	broad.mit.edu	37	chr10	26589858	26589858	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagacattgacttcctgattGaagaaatagaacgccttgga	9	7	0	6			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:26589858G>A	ENST00000376261.3	+	16	2229	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	GAD2_ENST00000259271.3_Missense_Mutation_p.E576K	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	576					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTTCCTGATTGAAGAAATAGA	0.438													False	0	False	10:26589858	0	A	26589858	G	A	26589858	3	1	106	1	0	0	0	0	1	0	0	0	6222	1291	45	2	1788	2	GAD2	10	26589858	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1776560	26589858	108944889	67	30505											
PTCHD3	374308	broad.mit.edu	37	chr10	27702453	27702453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctggcttcccttttcccGcgccacgcgcagatcctgca	9	17	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:27702453G>A	ENST00000438700.3	-	1	844	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	243					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCCTTTTCCCGCGCCACGCGC	0.627													False	0	True	10:27702453	0	A	27702453	G	A	27702453	3	1	106	1	0	0	0	0	1	0	0	0	12810	1086	38	1	1592	1	PTCHD3	10	27702453	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1112595	27702453	107832294	68	30506											
RBP3	5949	broad.mit.edu	37	chr10	48388884	48388884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctgggccagcttggccCgcaggagggcactggtctgc	16	15	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:48388884C>T	ENST00000224600.4	-	1	2107	c.1994G>A	c.(1993-1995)cGg>cAg	p.R665Q		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	665	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGCTTGGCCCGCAGGAGGGC	0.677													False	0	True	10:48388884	0	T	48388884	C	T	48388884	3	4	106	1	0	0	0	0	1	0	0	0	13236	652	23	1	1765	1	RBP3	10	48388884	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	20686431	48388884	87145863	69	30507											
AGAP6	414189	broad.mit.edu	37	chr10	51761817	51761817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaatattccttgatgacaGcacagccatccagcattatc	6	12	0	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:51761817G>A	ENST00000374056.4	+	4	787	c.389G>A	c.(388-390)aGc>aAc	p.S130N	AGAP6_ENST00000412531.3_Missense_Mutation_p.S153N			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	153					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CTTGATGACAGCACAGCCATC	0.388													False	0	True	10:51761817	0	A	51761817	G	A	51761817	3	1	106	1	0	0	0	0	1	0	0	0	372	971	34	2	476	2	AGAP6	10	51761817	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	3372933	51761817	83772930	70	30508											
CSTF2T	23283	broad.mit.edu	37	chr10	53457704	53457733	+	In_Frame_Del	DEL	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	-													acctcctccttgtatactgaCtccttgtatgcctgccccct					rs150681820		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	-	-	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:53457704_53457733delCTCCTTGTATGCCTGCCCCCTGCATCCCTC	ENST00000331173.4	-	1	1622_1651	c.1577_1606delGAGGGATGCAGGGGGCAGGCATACAAGGAG	c.(1576-1608)ggagggatgcagggggcaggcatacaaggagtc>gtc	p.GGMQGAGIQG526del	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	526	9 X 5 AA tandem repeats of G-[AT]-G-[MI]- Q.|Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding	p.G532D(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		tgtatactgactccttgtatgcctgccccctgcatccctcctccttgtat	0.561													False	1	True	10:53457704	0	-	53457733	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	-	53457704	7	5	106	1	0	1	0	1	0	0	0	0	4010	565	20	0	248	0	CSTF2T	10	53457704	In_Frame_Del	DEL	CTCCTTGTATGCCTGCCCCCTGCATCCCTC	TCGA-IB-A6UF-01A-23D-A33T-08	1695887	53457704	82077043	71	30509											
SLIT1	6585	broad.mit.edu	37	chr10	98764503	98764503	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgtagctgacacgcacatgGccctggtacagctcaactgc	10	14	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:98764503G>C	ENST00000266058.4	-	33	3902	c.3657C>G	c.(3655-3657)ggC>ggG	p.G1219G	SLIT1_ENST00000371070.4_Silent_p.G1219G|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1219	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CACGCACATGGCCCTGGTACA	0.597													False	0	True	10:98764503	0	C	98764503	G	C	98764503	2	2	106	1	0	0	0	0	0	0	0	1	14819	1190	42	5		5	SLIT1	10	98764503	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	45306799	98764503	36770244	72	30510											
GBF1	8729	broad.mit.edu	37	chr10	104117903	104117903	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcacaccaggttcagagctGcccactcccaatggaaccac	8	16	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:104117903G>T	ENST00000369983.3	+	9	1007	c.747G>T	c.(745-747)ctG>ctT	p.L249L		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	249					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GTTCAGAGCTGCCCACTCCCA	0.507													False	0	True	10:104117903	0	T	104117903	G	T	104117903	2	4	106	1	0	0	0	0	0	0	0	1	6314	1306	46	3		3	GBF1	10	104117903	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	5353400	104117903	31416844	73	30511											
SORCS1	114815	broad.mit.edu	37	chr10	108412204	108412204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcagctttccatcagccGtgactatccgcagcccccgc	8	18	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:108412204G>A	ENST00000263054.6	-	18	2418	c.2411C>T	c.(2410-2412)aCg>aTg	p.T804M	SORCS1_ENST00000344440.6_Missense_Mutation_p.T804M|SORCS1_ENST00000369698.1_Missense_Mutation_p.T339M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	804	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCATCAGCCGTGACTATCCG	0.532													False	0	False	10:108412204	0	A	108412204	G	A	108412204	3	1	106	1	0	0	0	0	1	0	0	0	15010	1145	40	1	1365	1	SORCS1	10	108412204	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	4294301	108412204	27122543	74	30512											
ANO3	63982	broad.mit.edu	37	chr11	26463589	26463589	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agccagtctacttccctcttCcagtcaaccgagagtgaatc	7	14	3	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:26463589C>A	ENST00000256737.3	+	2	1023	c.171C>A	c.(169-171)ttC>ttA	p.F57L	ANO3_ENST00000531646.1_Missense_Mutation_p.F57L|ANO3_ENST00000525139.1_Missense_Mutation_p.F41L|ANO3_ENST00000537978.1_Missense_Mutation_p.F41L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	57						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTTCCCTCTTCCAGTCAACCG	0.468													False	0	False	11:26463589	0	A	26463589	C	A	26463589	3	1	106	1	0	0	0	0	1	0	0	0	698	854	30	3	177	3	ANO3	11	26463589	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		26463589	108542927	75	30513											
LPXN	9404	broad.mit.edu	37	chr11	58317463	58317463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatccaggatgggagcagCgcagtaagcacagcgtggag	15	9	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:58317463C>T	ENST00000528954.1	-	6	777	c.658G>A	c.(658-660)Gct>Act	p.A220T	LPXN_ENST00000528489.1_Missense_Mutation_p.A195T|LPXN_ENST00000395074.2_Missense_Mutation_p.A215T	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	215	LIM zinc-binding 2.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATGGGAGCAGCGCAGTAAGCA	0.493													False	0	False	11:58317463	0	T	58317463	C	T	58317463	3	4	106	1	0	0	0	0	1	0	0	0	8991	768	27	1	533	1	LPXN	11	58317463	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	31853874	58317463	76689053	76	30514											
PLCB3	5331	broad.mit.edu	37	chr11	64031069	64031069	+	Splice_Site	DEL	G	G	-													ctgtctctgccatccgctccGgtgaggccttggtgggctct							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:64031069delG	ENST00000540288.1	+	20	2558	c.2455delG	c.(2455-2457)gga>ga	p.G819fs	PLCB3_ENST00000279230.6_Splice_Site_p.G819fs|PLCB3_ENST00000325234.5_Splice_Site_p.G752fs	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	819					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CATCCGCTCCGGTGAGGCCTT	0.647													False	2	False	11:64031069	0	-	64031069	G	-	64031069	8	5	106	1	0	1	0	1	0	0	1	0	12098	1130	39	0	2533	0	PLCB3	11	64031069	Splice_Site	DEL	G	TCGA-IB-A6UF-01A-23D-A33T-08	5713606	64031069	70975447	77	30515											
IGHMBP2	3508	broad.mit.edu	37	chr11	68675791	68675791	+	Frame_Shift_Del	DEL	C	C	-													cttgccaatgatgtcacttaCaggcgactgaaaaagtaagt							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:68675791delC	ENST00000539224.1	+	3	491	c.435delC	c.(433-435)tacfs	p.Y145fs	IGHMBP2_ENST00000255078.3_Frame_Shift_Del_p.Y145fs			P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	145					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATGTCACTTACAGGCGACTGA	0.458													False	1	False	11:68675791	0	-	68675791	C	-	68675791	7	5	106	1	0	1	0	1	0	0	0	0	7641	489	17	0	445	0	IGHMBP2	11	68675791	Frame_Shift_Del	DEL	C	TCGA-IB-A6UF-01A-23D-A33T-08	4644722	68675791	66330725	78	30516											
ELMOD1	55531	broad.mit.edu	37	chr11	107526732	107526732	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagcggagctctaaaaAcccatttctacaatatcgcc	7	12	3	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:107526732A>T	ENST00000265840.7	+	11	1037	c.772A>T	c.(772-774)Acc>Tcc	p.T258S	ELMOD1_ENST00000443271.2_Missense_Mutation_p.T250S|ELMOD1_ENST00000531234.1_Missense_Mutation_p.T252S	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	258	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGCTCTAAAAACCCATTTCTA	0.373													False	0	True	11:107526732	0	T	107526732	A	T	107526732	3	4	106	1	0	0	0	0	1	0	0	0	5100	43	2	5	810	5	ELMOD1	11	107526732	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	38850941	107526732	27479784	79	30517											
SIK3	23387	broad.mit.edu	37	chr11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-													ggtattcttgctgttgctgcTgttgctgctgctgctgccgt					rs539858	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596													False	1	True	11:116729011	0	-	116729013	TGT	-	116729011	7	5	106	1	0	1	0	1	0	0	0	0	14400	1580	55	0	955	0	SIK3	11	116729011	In_Frame_Del	DEL	TGT	TCGA-IB-A6UF-01A-23D-A33T-08	9202279	116729011	18277505	80	30518											
C1R	715	broad.mit.edu	37	chr12	7187985	7187985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtcccttactgcaaaaaCgcccccactatccccctggc	7	19	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:7187985C>T	ENST00000542285.1	-	11	1962	c.1813G>A	c.(1813-1815)Gtt>Att	p.V605I				P00736	C1R_HUMAN	complement component 1, r subcomponent	657	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTGCAAAAACGCCCCCACTA	0.572													False	0	True	12:7187985	0	T	7187985	C	T	7187985	3	4	106	1	0	0	0	0	1	0	0	0	1987	536	19	1	152	1	C1R	12	7187985	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		7187985	126663910	81	30519											
HIST4H4	121504	broad.mit.edu	37	chr12	14923783	14923783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccgtgacggtcttgCgcttggcgtgctccgtgtaa	14	12	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:14923783C>T	ENST00000539745.1	-	1	282	c.236G>A	c.(235-237)cGc>cAc	p.R79H		NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	79					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						GACGGTCTTGCGCTTGGCGTG	0.587											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:14923783	0	T	14923783	C	T	14923783	3	4	106	1	0	0	0	0	1	0	0	0	7232	768	27	1	79	1	HIST4H4	12	14923783	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	7735798	14923783	118928112	82	30520											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	106	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	10474502	25398285	108453610	83	30521											
SCN8A	6334	broad.mit.edu	37	chr12	52183167	52183167	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaacctgttcattggtGtcatcattgataacttcaat	6	10	4	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:52183167G>T	ENST00000354534.6	+	24	4562	c.4384G>T	c.(4384-4386)Gtc>Ttc	p.V1462F	SCN8A_ENST00000545061.1_Missense_Mutation_p.V1421F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GTTCATTGGTGTCATCATTGA	0.428													False	0	False	12:52183167	0	T	52183167	G	T	52183167	3	4	106	1	0	0	0	0	1	0	0	0	14005	1377	48	3	4474	3	SCN8A	12	52183167	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	26784882	52183167	81668728	84	30522											
HOXC4	3221	broad.mit.edu	37	chr12	54448134	54448134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatggatgaaaaaaattcAcgttagcacgggtaggcaac	10	9	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:54448134A>G	ENST00000430889.2	+	1	474	c.428A>G	c.(427-429)cAc>cGc	p.H143R	HOXC4_ENST00000303406.4_Missense_Mutation_p.H143R|HOXC4_ENST00000609810.1_Missense_Mutation_p.H143R	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	143						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						AAAAAAATTCACGTTAGCACG	0.652													False	0	False	12:54448134	0	G	54448134	A	G	54448134	3	3	106	1	0	0	0	0	1	0	0	0	7360	159	6	4	430	4	HOXC4	12	54448134	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	2264967	54448134	79403761	85	30523											
ARHGAP9	64333	broad.mit.edu	37	chr12	57873000	57873000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcttctaggcgtcttgCcaaccaccagtcggagttgg	14	11	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:57873000C>T	ENST00000393797.2	-	5	595	c.403G>A	c.(403-405)Gca>Aca	p.A135T	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.A143T|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.A64T|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.A64T|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.A64T			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	64					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGGCGTCTTGCCAACCACCAG	0.537													False	0	False	12:57873000	0	T	57873000	C	T	57873000	3	4	106	1	0	0	0	0	1	0	0	0	891	739	26	2	2073	2	ARHGAP9	12	57873000	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	3424866	57873000	75978895	86	30524											
PPFIA2	8499	broad.mit.edu	37	chr12	81839441	81839441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttgccgttttaccaccGtcattcttagtgatctttca	8	11	4	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:81839441G>A	ENST00000550584.2	-	5	759	c.464C>T	c.(463-465)aCg>aTg	p.T155M	PPFIA2_ENST00000443686.3_Missense_Mutation_p.T81M|PPFIA2_ENST00000407050.4_Missense_Mutation_p.T81M|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T155M|PPFIA2_ENST00000333447.7_Missense_Mutation_p.T137M|PPFIA2_ENST00000549396.1_Missense_Mutation_p.T155M|PPFIA2_ENST00000552948.1_Missense_Mutation_p.T155M|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.T137M|PPFIA2_ENST00000550359.2_Missense_Mutation_p.T2M|PPFIA2_ENST00000545296.2_5'UTR	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	81										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTTTACCACCGTCATTCTTAG	0.423													False	0	False	12:81839441	0	A	81839441	G	A	81839441	3	1	106	1	0	0	0	0	1	0	0	0	12379	1145	40	1	3417	1	PPFIA2	12	81839441	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	23966441	81839441	52012454	87	30525											
POLR3B	55703	broad.mit.edu	37	chr12	106821038	106821038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaaatgaaaaagattgccGaccaggtgattcctaagcaa	9	8	0	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:106821038G>A	ENST00000228347.4	+	13	1387	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.D331N	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	389					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AAAGATTGCCGACCAGGTGAT	0.353													False	0	False	12:106821038	0	A	106821038	G	A	106821038	3	1	106	1	0	0	0	0	1	0	0	0	12298	1058	37	1	1215	1	POLR3B	12	106821038	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	24981597	106821038	27030857	88	30526											
TUBA3C	7278	broad.mit.edu	37	chr13	19751421	19751421	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggccgtgatggaggacacGatctgcccaatcaggcgatt	14	10	2	1	rs142245280		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr13:19751421G>A	ENST00000400113.3	-	4	806	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	234					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGAGGACACGATCTGCCCAA	0.567													False	0	False	13:19751421	0	A	19751421	G	A	19751421	2	1	106	1	0	0	0	0	0	0	0	1	16830	1048	37	1		1	TUBA3C	13	19751421	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		19751421	95418457	89	30527											
SKA3	221150	broad.mit.edu	37	chr13	21734128	21734133	+	Splice_Site	DEL	TAAAAG	TAAAAG	-													gagttggtatattcggcatcTaaaagacacataaaatggtc							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	TAAAAG	TAAAAG	-	-	TAAAAG	TAAAAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr13:21734128_21734133delTAAAAG	ENST00000400018.3	-	6	899		c.e6-2		SKA3_ENST00000314759.5_Splice_Site	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATTCGGCATCTAAAAGACACATAAAA	0.32													False	1	True	13:21734128	0	-	21734133	TAAAAG	-	21734128	8	5	106	1	0	1	0	1	0	0	1	0	14435	1536	53	0	473	0	SKA3	13	21734128	Splice_Site	DEL	TAAAAG	TCGA-IB-A6UF-01A-23D-A33T-08	1982707	21734128	93435750	90	30528											
SKA3	221150	broad.mit.edu	37	chr13	21746643	21746644	+	Splice_Site	INS	-	-	CG													agaagaatattaacatcatcINScttttatgaataaagaaagt							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr13:21746643_21746644insCG	ENST00000400018.3	-	3	235	c.166_166insCG	c.(166-168)gat>CGgat	p.D56fs	SKA3_ENST00000314759.5_Splice_Site_p.D56fs	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	56					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTAACATCATCCTTTTATGAAT	0.252													False	0	True	13:21746643	0	CG	21746644	-	CG	21746643	8	5	106	1	0	1	1	0	0	0	1	0	14435	869	30	0	1147	0	SKA3	13	21746643	Splice_Site	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	12515	21746643	93423235	91	30529											
MTUS2	23281	broad.mit.edu	37	chr13	30002979	30002979	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgccagccagcctgccggGatgggccattgctgctgcaa	13	14	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr13:30002979G>A	ENST00000542829.1	+	0	134				MTUS2_ENST00000380808.2_De_novo_Start_InFrame|MTUS2_ENST00000431530.3_Intron			Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2							cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCCTGCCGGGATGGGCCATT	0.607													False	0	True	13:30002979	0	A	30002979	G	A	30002979	1	1	106	1	0	0	0	0	0	0	0	0	10033	1189	41	2		2	MTUS2	13	30002979	Translation_Start_Site	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	8256336	30002979	85166899	92	30530											
STXBP6	0	broad.mit.edu	37	chr14	25325303	25325303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaacaaatcaaactctgccGaatcctggaaaagacaatga	6	10	2	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr14:25325303G>A	ENST00000323944.5	-	4	741	c.290C>T	c.(289-291)tCg>tTg	p.S97L	STXBP6_ENST00000548724.1_Missense_Mutation_p.S97L|STXBP6_ENST00000358326.2_Missense_Mutation_p.S97L|STXBP6_ENST00000396700.1_Missense_Mutation_p.S97L|STXBP6_ENST00000419632.2_Missense_Mutation_p.S97L|STXBP6_ENST00000550887.1_Missense_Mutation_p.S97L|STXBP6_ENST00000546511.1_Missense_Mutation_p.S97L			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	97					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		AAACTCTGCCGAATCCTGGAA	0.388													False	0	False	14:25325303	0	A	25325303	G	A	25325303	3	1	106	1	0	0	0	0	1	0	0	0	15440	1059	37	1	354	1	STXBP6	14	25325303	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		25325303	82024237	93	30531											
NPAS3	64067	broad.mit.edu	37	chr14	34269655	34269655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtggccattcccgactcGgtcctcaccccgcccggcgc	10	21	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr14:34269655G>A	ENST00000346562.2	+	11	2120	c.2046G>A	c.(2044-2046)tcG>tcA	p.S682S	NPAS3_ENST00000548645.1_Silent_p.S684S|NPAS3_ENST00000551492.1_Silent_p.S719S|NPAS3_ENST00000356141.4_Silent_p.S714S|NPAS3_ENST00000357798.5_Silent_p.S701S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	714					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTCCCGACTCGGTCCTCAccc	0.781													False	0	False	14:34269655	0	A	34269655	G	A	34269655	2	1	106	1	0	0	0	0	0	0	0	1	10632	1103	39	1		1	NPAS3	14	34269655	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	8944352	34269655	73079885	94	30532											
OCA2	4948	broad.mit.edu	37	chr15	28202828	28202828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtctcctcgcggctggCcgggctgatgcgctgagcag	16	13	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:28202828C>T	ENST00000354638.3	-	16	1845	c.1690G>A	c.(1690-1692)Gcc>Acc	p.A564T	OCA2_ENST00000382996.2_Missense_Mutation_p.A564T|OCA2_ENST00000353809.5_Missense_Mutation_p.A540T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	564					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TCGCGGCTGGCCGGGCTGATG	0.637									Oculocutaneous Albinism				False	0	False	15:28202828	0	T	28202828	C	T	28202828	3	4	106	1	0	0	0	0	1	0	0	0	10883	739	26	2	862	2	OCA2	15	28202828	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		28202828	74328564	95	30533											
IGDCC4	57722	broad.mit.edu	37	chr15	65681260	65681260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggggggcaccagtgcagccGaaccgtggacggtgtcaggg	20	10	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:65681260G>A	ENST00000352385.2	-	15	2802	c.2593C>T	c.(2593-2595)Cgg>Tgg	p.R865W		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	865	Fibronectin type-III 5.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CAGTGCAGCCGAACCGTGGAC	0.652													False	0	False	15:65681260	0	A	65681260	G	A	65681260	3	1	106	1	0	0	0	0	1	0	0	0	7619	1057	37	1	1183	1	IGDCC4	15	65681260	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	37478432	65681260	36850132	96	30534											
DIS3L	115752	broad.mit.edu	37	chr15	66607419	66607419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggatgaaggctcgaaaccGctcaattcatggagatgtgg	14	8	2	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:66607419G>A	ENST00000319194.5	+	7	872	c.611G>A	c.(610-612)cGc>cAc	p.R204H	DIS3L_ENST00000441424.2_Missense_Mutation_p.R153H|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Missense_Mutation_p.R287H	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	287					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTCGAAACCGCTCAATTCAT	0.478													False	0	False	15:66607419	0	A	66607419	G	A	66607419	3	1	106	1	0	0	0	0	1	0	0	0	4566	1087	38	1	886	1	DIS3L	15	66607419	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	926159	66607419	35923973	97	30535											
KIAA1024	23251	broad.mit.edu	37	chr15	79750572	79750572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaacagtgaaagcctgCgggtcaaggccttaaaaaaa	12	8	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:79750572C>T	ENST00000305428.3	+	2	2158	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	695						integral to membrane		p.R695W(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGAAAGCCTGCGGGTCAAGGC	0.542													False	0	True	15:79750572	0	T	79750572	C	T	79750572	3	4	106	1	0	0	0	0	1	0	0	0	8255	759	27	1	2085	1	KIAA1024	15	79750572	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	13143153	79750572	22780820	98	30536											
WFIKKN1	117166	broad.mit.edu	37	chr16	683104	683104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgagagaacctgatcatgCgccctgatcagatgtatggc	12	10	2	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:683104C>T	ENST00000319070.2	+	2	1016	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	232	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				CCTGATCATGCGCCCTGATCA	0.662													False	0	False	16:683104	0	T	683104	C	T	683104	3	4	106	1	0	0	0	0	1	0	0	0	17442	768	27	1	700	1	WFIKKN1	16	683104	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		683104	89671649	99	30537											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1812981	1812981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgatctcggcaggcagCcggcccctggaattcttccc	11	17	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:1812981C>T	ENST00000250894.4	+	16	2026	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	MAPK8IP3_ENST00000356010.5_Silent_p.S617S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	623					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGGCAGGCAGCCGGCCCCTGG	0.657													False	0	True	16:1812981	0	T	1812981	C	T	1812981	2	4	106	1	0	0	0	0	0	0	0	1	9353	738	26	2		2	MAPK8IP3	16	1812981	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	1129877	1812981	88541772	100	30538											
MEFV	4210	broad.mit.edu	37	chr16	3293588	3293588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacagctgtcaaatctttgCgggccatcaggcagcctctc	9	13	4	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAAATCTTTGCGGGCCATCAG	0.517													False	0	True	16:3293588	0	T	3293588	C	T	3293588	2	4	106	1	0	0	0	0	0	0	0	1	9526	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	1480607	3293588	87061165	101	30539											
SMG1	23049	broad.mit.edu	37	chr16	18896965	18896965	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatccacattttcaagaatAgactgcaggctggtcattac	8	9	2	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:18896965A>T	ENST00000446231.2	-	7	1258	c.846T>A	c.(844-846)tcT>tcA	p.S282S	SMG1_ENST00000389467.3_Silent_p.S282S|SMG1_ENST00000565224.1_Silent_p.S256S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	282	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTCAAGAATAGACTGCAGGC	0.333													False	0	False	16:18896965	0	T	18896965	A	T	18896965	2	4	106	1	0	0	0	0	0	0	0	1	14875	407	15	5		5	SMG1	16	18896965	Silent	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	15603377	18896965	71457788	102	30540											
KIAA0556	23247	broad.mit.edu	37	chr16	27659970	27659970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggcccacggctccacatcGaacctcctgtggactattct	8	16	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:27659970G>A	ENST00000261588.4	+	6	473	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	152										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCTCCACATCGAACCTCCTGT	0.493													False	0	False	16:27659970	0	A	27659970	G	A	27659970	3	1	106	1	0	0	0	0	1	0	0	0	8233	1059	37	1	476	1	KIAA0556	16	27659970	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	8763005	27659970	62694783	103	30541											
DPEP2	64174	broad.mit.edu	37	chr16	68026461	68026461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccaggctggtctggccGtagctgaaattgcgcaggtt	14	10	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:68026461G>A	ENST00000412757.2	-	4	1007	c.342C>T	c.(340-342)taC>taT	p.Y114Y	DPEP2_ENST00000572888.1_Silent_p.Y114Y|DPEP2_ENST00000393847.1_Silent_p.Y114Y			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	114					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGGTCTGGCCGTAGCTGAAAT	0.602													False	0	False	16:68026461	0	A	68026461	G	A	68026461	2	1	106	1	0	0	0	0	0	0	0	1	4744	1140	40	1		1	DPEP2	16	68026461	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	40366491	68026461	22328292	104	30542											
SCARF1	8578	broad.mit.edu	37	chr17	1538293	1538293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgagttggggctctggCcgacagagccagaggcaagg	19	9	1	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:1538293C>T	ENST00000263071.4	-	11	2301	c.2252G>A	c.(2251-2253)gGc>gAc	p.G751D	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.G665D	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	751	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGGGCTCTGGCCGACAGAGCC	0.677													False	0	False	17:1538293	0	T	1538293	C	T	1538293	3	4	106	1	0	0	0	0	1	0	0	0	13963	739	26	2	244	2	SCARF1	17	1538293	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		1538293	79656917	105	30543											
ZNF594	84622	broad.mit.edu	37	chr17	5085387	5085387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctgatgtttgaggaaaGccgtgtgccacatgaagagt	13	7	1	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:5085387G>A	ENST00000399604.4	-	1	2305	c.2165C>T	c.(2164-2166)gCt>gTt	p.A722V	ZNF594_ENST00000575779.1_Missense_Mutation_p.A722V			Q96JF6	ZN594_HUMAN	zinc finger protein 594	722					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTGAGGAAAGCCGTGTGCCA	0.458													False	0	True	17:5085387	0	A	5085387	G	A	5085387	3	1	106	1	0	0	0	0	1	0	0	0	18107	971	34	2	262	2	ZNF594	17	5085387	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	3547094	5085387	76109823	106	30544											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576	by1000genomes	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			False	0	False	17:7577120	0	T	7577120	C	T	7577120	3	4	106	1	0	0	0	0	1	0	0	0	16464	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	2491733	7577120	73618090	107	30545											
USH1G	124590	broad.mit.edu	37	chr17	72915717	72915717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctgccgcaggagggcgGcaaagtcctccatgtgcaga	13	13	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:72915717G>A	ENST00000319642.1	-	2	1396	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	405	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGGAGGGCGGCAAAGTCCTC	0.627													False	0	False	17:72915717	0	A	72915717	G	A	72915717	3	1	106	1	0	0	0	0	1	0	0	0	17119	1203	42	2	179	2	USH1G	17	72915717	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	65338597	72915717	8279493	108	30546											
ZNF750	79755	broad.mit.edu	37	chr17	80788076	80788076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgtgtcctgcagcttcGccttcttagctccttgctgg	11	14	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:80788076G>A	ENST00000269394.3	-	3	2947	c.2114C>T	c.(2113-2115)gCg>gTg	p.A705V	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.A306V|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	705						intracellular	zinc ion binding	p.A705V(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGCAGCTTCGCCTTCTTAGC	0.567													False	0	False	17:80788076	0	A	80788076	G	A	80788076	3	1	106	1	0	0	0	0	1	0	0	0	18214	1087	38	1	61	1	ZNF750	17	80788076	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	7872359	80788076	407134	109	30547											
GNAL	2774	broad.mit.edu	37	chr18	11752449	11752449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcatggggtgtttgggcgGcaacagcaagacgacggaag	18	7	0	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr18:11752449G>A	ENST00000423027.3	+	1	338	c.17G>A	c.(16-18)gGc>gAc	p.G6D	GNAL_ENST00000334049.6_Intron|GNAL_ENST00000535121.1_Missense_Mutation_p.G6D|GNAL_ENST00000269162.5_Missense_Mutation_p.G6D			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	6					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TGTTTGGGCGGCAACAGCAAG	0.557													False	0	False	18:11752449	0	A	11752449	G	A	11752449	3	1	106	1	0	0	0	0	1	0	0	0	6552	1203	42	2	399	2	GNAL	18	11752449	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		11752449	66324799	110	30548											
FHOD3	80206	broad.mit.edu	37	chr18	33952645	33952645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcctgtctcgttaggcGgggcaagaagcacagcatca	12	11	3	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr18:33952645G>A	ENST00000257209.4	+	3	397	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	FHOD3_ENST00000590592.1_Missense_Mutation_p.R92Q|FHOD3_ENST00000445677.1_Missense_Mutation_p.R92Q|FHOD3_ENST00000359247.4_Missense_Mutation_p.R92Q	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	92	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.R92Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTCGTTAGGCGGGGCAAGAAG	0.527													False	0	True	18:33952645	0	A	33952645	G	A	33952645	3	1	106	1	0	0	0	0	1	0	0	0	5923	1116	39	1	285	1	FHOD3	18	33952645	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	22200196	33952645	44124603	111	30549											
C3	718	broad.mit.edu	37	chr19	6678284	6678284	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcgctgctgtccaacctGcacctcatccgagcctggag	11	16	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:6678284G>A	ENST00000245907.6	-	40	4821	c.4729C>T	c.(4729-4731)Cag>Tag	p.Q1577*	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1577	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGTCCAACCTGCACCTCATCC	0.607													False	0	False	19:6678284	0	A	6678284	G	A	6678284	4	1	106	1	0	0	0	0	0	1	0	0	2220	1328	46	2	270	2	C3	19	6678284	Nonsense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		6678284	52450699	112	30550											
ANGPTL4	51129	broad.mit.edu	37	chr19	8436173	8436173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatagcatcacgggggaccGcaacagccgcctggccgtgc	14	15	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:8436173G>A	ENST00000301455.2	+	6	977	c.806G>A	c.(805-807)cGc>cAc	p.R269H	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.R102H|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.R231H	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	269	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						ACGGGGGACCGCAACAGCCGC	0.657													False	0	False	19:8436173	0	A	8436173	G	A	8436173	3	1	106	1	0	0	0	0	1	0	0	0	616	1087	38	1	828	1	ANGPTL4	19	8436173	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1757889	8436173	50692810	113	30551											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	106	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-IB-A6UF-01A-23D-A33T-08	5647494	14083667	45045316	114	30552											
RFX1	5989	broad.mit.edu	37	chr19	14088833	14088833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgtagctggcatcgccGccctccacatactgcacctg	10	17	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:14088833G>A	ENST00000254325.4	-	8	1134	c.900C>T	c.(898-900)ggC>ggT	p.G300G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	300					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TGGCATCGCCGCCCTCCACAT	0.657													False	0	True	19:14088833	0	A	14088833	G	A	14088833	2	1	106	1	0	0	0	0	0	0	0	1	13341	1074	38	1		1	RFX1	19	14088833	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	5166	14088833	45040150	115	30553											
TSHZ3	57616	broad.mit.edu	37	chr19	31768582	31768582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtcggtgatgatggccGtgctgccactcaaactgctg	15	10	1	2	rs112525703		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:31768582G>A	ENST00000240587.4	-	2	2444	c.2117C>T	c.(2116-2118)aCg>aTg	p.T706M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	706					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GATGATGGCCGTGCTGCCACT	0.627													False	0	False	19:31768582	0	A	31768582	G	A	31768582	3	1	106	1	0	0	0	0	1	0	0	0	16708	1145	40	1	1132	1	TSHZ3	19	31768582	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	17679749	31768582	27360401	116	30554											
MRPS12	6183	broad.mit.edu	37	chr19	39423173	39423173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgcaagtgctgtcgagtgCggctcagcactggccgcgag	15	12	1	0	rs140018981	by1000genomes	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:39423173C>T	ENST00000407800.2	+	2	591	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	MRPS12_ENST00000402029.3_Missense_Mutation_p.R84W|MRPS12_ENST00000308018.4_Missense_Mutation_p.R84W|SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	84					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTGTCGAGTGCGGCTCAGCAC	0.662													False	0	False	19:39423173	0	T	39423173	C	T	39423173	3	4	106	1	0	0	0	0	1	0	0	0	9890	759	27	1	256	1	MRPS12	19	39423173	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	7654591	39423173	19705810	117	30555											
IRGQ	126298	broad.mit.edu	37	chr19	44096739	44096739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcatagccctgggagtccGccaggccgtagggggaacac	15	13	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:44096739G>A	ENST00000422989.1	-	3	1466	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000602269.1_Silent_p.G437G|IRGQ_ENST00000601520.1_Intron	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	437							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CTGGGAGTCCGCCAGGCCGTA	0.721													False	0	False	19:44096739	0	A	44096739	G	A	44096739	2	1	106	1	0	0	0	0	0	0	0	1	7889	1074	38	1		1	IRGQ	19	44096739	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	4673566	44096739	15032244	118	30556											
BCAM	4059	broad.mit.edu	37	chr19	45316707	45316707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcccagagggctacatgaCcagccgcacggtccgggagg	14	14	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:45316707C>A	ENST00000589651.1	+	6	668	c.614C>A	c.(613-615)aCc>aAc	p.T205N	BCAM_ENST00000270233.6_Missense_Mutation_p.T205N			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)		Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGCTACATGACCAGCCGCACG	0.711													False	0	False	19:45316707	0	A	45316707	C	A	45316707	3	1	106	1	0	0	0	0	1	0	0	0	1348	507	18	3	636	3	BCAM	19	45316707	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	1219968	45316707	13812276	119	30557											
FTL	2512	broad.mit.edu	37	chr19	49468811	49468811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaccgacgtggaggcagCcgtcaacagcctggtcaatt	11	13	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:49468811C>T	ENST00000331825.6	+	1	254	c.47C>T	c.(46-48)gCc>gTc	p.A16V		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	16	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GTGGAGGCAGCCGTCAACAGC	0.567													False	0	False	19:49468811	0	T	49468811	C	T	49468811	3	4	106	1	0	0	0	0	1	0	0	0	6126	739	26	2	49	2	FTL	19	49468811	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	4152104	49468811	9660172	120	30558											
ZNF544	27300	broad.mit.edu	37	chr19	58773560	58773560	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgtgggaaatccttcTcccagagttccaaacttatt	7	11	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:58773560T>A	ENST00000269829.4	+	7	2062	c.1588T>A	c.(1588-1590)Tcc>Acc	p.S530T	ZNF544_ENST00000596652.1_Missense_Mutation_p.S530T|ZNF544_ENST00000599953.1_Missense_Mutation_p.S388T|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Missense_Mutation_p.S502T|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.S502T|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.S502T|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599227.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAAATCCTTCTCCCAGAGTTC	0.448													False	0	True	19:58773560	0	A	58773560	T	A	58773560	3	1	106	1	0	0	0	0	1	0	0	0	18060	1551	54	5	1602	5	ZNF544	19	58773560	Missense_Mutation	SNP	T	TCGA-IB-A6UF-01A-23D-A33T-08	9304749	58773560	355423	121	30559											
FERMT1	55612	broad.mit.edu	37	chr20	6090996	6090996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgaggctggtacatatccGcaagtgcttctggggactgg	14	10	1	0	rs147864238		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:6090996G>A	ENST00000217289.4	-	5	1483	c.695C>T	c.(694-696)gCg>gTg	p.A232V	FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	232	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GTACATATCCGCAAGTGCTTC	0.532													False	0	False	20:6090996	0	A	6090996	G	A	6090996	3	1	106	1	0	0	0	0	1	0	0	0	5857	1087	38	1	1382	1	FERMT1	20	6090996	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		6090996	56934524	122	30560											
PAK7	57144	broad.mit.edu	37	chr20	9546990	9546990	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtaggtgtcagaccctgaCagtggagggctgaggaccat	17	8	1	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:9546990C>G	ENST00000378429.3	-	6	1578	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	PAK7_ENST00000378423.1_Silent_p.L344L|PAK7_ENST00000353224.5_Silent_p.L344L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	344	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAGACCCTGACAGTGGAGGGC	0.537													False	0	False	20:9546990	0	G	9546990	C	G	9546990	2	3	106	1	0	0	0	0	0	0	0	1	11473	465	17	5		5	PAK7	20	9546990	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	3455994	9546990	53478530	123	30561											
ZFP64	55734	broad.mit.edu	37	chr20	50769918	50769918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgccttttcaagtccgaGctgattttgaacttggcgct	10	9	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:50769918G>A	ENST00000216923.4	-	6	1162	c.813C>T	c.(811-813)agC>agT	p.S271S	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Silent_p.S217S|ZFP64_ENST00000371515.4_Silent_p.S269S|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TCAAGTCCGAGCTGATTTTGA	0.557													False	0	False	20:50769918	0	A	50769918	G	A	50769918	2	1	106	1	0	0	0	0	0	0	0	1	17735	962	34	2		2	ZFP64	20	50769918	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	41222928	50769918	12255602	124	30562											
TIAM1	7074	broad.mit.edu	37	chr21	32513695	32513695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggtcagggcgaacagctcCctgagcagaagtgggtactt	14	10	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr21:32513695C>A	ENST00000286827.3	-	22	4074	c.3603G>T	c.(3601-3603)agG>agT	p.R1201S	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1141S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1201	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGAACAGCTCCCTGAGCAGAA	0.622													False	0	True	21:32513695	0	A	32513695	C	A	32513695	3	1	106	1	0	0	0	0	1	0	0	0	15972	622	22	3	1204	3	TIAM1	21	32513695	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		32513695	15616200	125	30563											
BCR	613	broad.mit.edu	37	chr22	23657666	23657666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaggccatccctgcccCggacagcaagagacagagca	13	14	0	2	rs2227942		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:23657666C>T	ENST00000305877.8	+	23	4524	c.3773C>T	c.(3772-3774)cCg>cTg	p.P1258L	BCR_ENST00000359540.3_Missense_Mutation_p.P1214L|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1258					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						ATCCCTGCCCCGGACAGCAAG	0.607			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								False	0	True	22:23657666	0	T	23657666	C	T	23657666	3	4	106	1	0	0	0	0	1	0	0	0	1392	652	23	1	3863	1	BCR	22	23657666	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		23657666	27646900	126	30564											
PIWIL3	440822	broad.mit.edu	37	chr22	25124284	25124284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgggcatttggtacataGgtatctttttatgctgtcat	9	5	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:25124284G>A	ENST00000332271.5	-	15	2208	c.1792C>T	c.(1792-1794)Cta>Tta	p.L598L	PIWIL3_ENST00000533313.1_Silent_p.L480L|PIWIL3_ENST00000527701.1_Silent_p.L480L|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	598	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGGTACATAGGTATCTTTTT	0.418													False	0	False	22:25124284	0	A	25124284	G	A	25124284	2	1	106	1	0	0	0	0	0	0	0	1	12028	991	35	2		2	PIWIL3	22	25124284	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1466618	25124284	26180282	127	30565											
UQCR10	29796	broad.mit.edu	37	chr22	30163537	30163538	+	In_Frame_Ins	INS	-	-	AAGCTGTGGAAACACATCAAGCACAAGTATGAGAACAAGTAGTTCCTT													acgaccacatcaacgaggggINSgtgagggcctgtgccatccc							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:30163537_30163538insAAGCTGTGGAAACACATCAAGCACAAGTATGAGAACAAGTAGTTCCTT	ENST00000401406.3	+	1	175_176	c.150_151insAAGCTGTGGAAACACATCAAGCACAAGTATGAGAACAAGTAGTTCCTT	c.(151-153)gtg>AAGCTGTGGAAACACATCAAGCACAAGTATGAGAACAAGTAGTTCCTTgtg	p.50_51insKLWKHIKHKYENK*FL	UQCR10_ENST00000330029.6_Splice_Site_p.51_52insSCGNTSSTSMRTSSSL			Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	50					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						TCAACGAGGGGGTGAGGGCCTG	0.599													False	0	True	22:30163537	0	AAGCTGTGGAAACACATCAAGCACAAGTATGAGAACAAGTAGTTCCTT	30163538	-	AAGCTGTGGAAACACATCAAGCACAAGTATGAGAACAAGTAGTTCCTT	30163537	7	5	106	1	0	1	1	0	0	0	0	0	17100	1246	43	0	152	0	UQCR10	22	30163537	In_Frame_Ins	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	5039253	30163537	21141029	128	30566											
TBC1D22A	25771	broad.mit.edu	37	chr22	47189570	47189570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggtggtcatggagacgGccaaccgtgtgctgcgtaac	15	11	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:47189570G>A	ENST00000337137.4	+	3	458	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.A51T|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.A98T|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.A79T|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.A51T	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	98						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CATGGAGACGGCCAACCGTGT	0.687													False	0	False	22:47189570	0	A	47189570	G	A	47189570	3	1	106	1	0	0	0	0	1	0	0	0	15693	1203	42	2	302	2	TBC1D22A	22	47189570	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	17026033	47189570	4114996	129	30567											
KIAA2022	340533	broad.mit.edu	37	chrX	73960072	73960072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactttttgtgtgtcggtccGttattgcctaaagtgctcat	9	8	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chrX:73960072G>A	ENST00000055682.6	-	3	4931	c.4320C>T	c.(4318-4320)aaC>aaT	p.N1440N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGTCGGTCCGTTATTGCCTA	0.453													False	0	False	X:73960072	0	A	73960072	G	A	73960072	2	1	106	1	0	0	0	0	0	0	0	1	8319	1136	40	1		1	KIAA2022	23	73960072	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		73960072	81310488	130	30568											
NOC2L	26155	broad.mit.edu	37	chr1	889227	889227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagcacgctgatgtgccGcagcacggccgccaacaccg	11	18	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:889227G>A	ENST00000327044.6	-	8	872	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	275						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTGATGTGCCGCAGCACGGCC	0.617													False	0	False	1:889227	0	A	889227	G	A	889227	3	1	107	1	0	0	0	0	1	0	0	0	10581	1086	38	1	1474	1	NOC2L	1	889227	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		889227	248361394	1	30569											
TMEM52	339456	broad.mit.edu	37	chr1	1849752	1849752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgactgccacgtcgcaggGctgccgtgctggtggcagat	16	11	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:1849752G>A	ENST00000378602.3	-	1	484	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S	TMEM52_ENST00000310991.3_Missense_Mutation_p.P97S			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	97						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGTCGCAGGGCTGCCGTGCT	0.632													False	0	True	1:1849752	0	A	1849752	G	A	1849752	3	1	107	1	0	0	0	0	1	0	0	0	16260	1203	42	2	348	2	TMEM52	1	1849752	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	960525	1849752	247400869	2	30570											
RPL22	6146	broad.mit.edu	37	chr1	6257817	6257818	+	Translation_Start_Site	INS	-	-	ACAGGAGCCATGGCGGCAGCGGAG													ccttcaccacaagctttttcINStaagaaaatacacaaatgat							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:6257817_6257818insACAGGAGCCATGGCGGCAGCGGAG	ENST00000484532.1	-	0	0				RPL22_ENST00000497965.1_Splice_Site|RPL22_ENST00000234875.4_Splice_Site			P35268	RL22_HUMAN	ribosomal protein L22						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAAGCTTTTTCTAAGAAAATAC	0.386			T	RUNX1	"AML, CML"								False	0	False	1:6257817	0	ACAGGAGCCATGGCGGCAGCGGAG	6257818	-	ACAGGAGCCATGGCGGCAGCGGAG	6257817	6	5	107	1	0	1	1	0	0	0	0	0	13647	927	32	0		0	RPL22	1	6257817	Translation_Start_Site	INS	-	TCGA-IB-A6UG-01A-32D-A33T-08	4408065	6257817	242992804	3	30571											
NBPF3	84224	broad.mit.edu	37	chr1	21801427	21801427	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgagcaagaggaagaaaaAgggccagtgtctcccaggta	13	8	1	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:21801427A>G	ENST00000318220.6	+	11	1855	c.807A>G	c.(805-807)aaA>aaG	p.K269K	NBPF3_ENST00000454000.2_Silent_p.K255K|NBPF3_ENST00000342104.5_Silent_p.K325K|NBPF3_ENST00000318249.5_Silent_p.K325K			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	325	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAAGAAAAAGGGCCAGTGT	0.398													False	0	True	1:21801427	0	G	21801427	A	G	21801427	2	3	107	1	0	0	0	0	0	0	0	1	10265	69	3	4		4	NBPF3	1	21801427	Silent	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	15543610	21801427	227449194	4	30572											
EPHA8	2046	broad.mit.edu	37	chr1	22903359	22903359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggctacgaggagcggcGggatgcctgtgtgggtgagc	20	9	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:22903359G>A	ENST00000166244.3	+	3	881	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	EPHA8_ENST00000374644.4_Missense_Mutation_p.R270Q|EPHA8_ENST00000538803.1_Missense_Mutation_p.R270Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	270	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGGAGCGGCGGGATGCCTGT	0.677													False	0	True	1:22903359	0	A	22903359	G	A	22903359	3	1	107	1	0	0	0	0	1	0	0	0	5205	1116	39	1	819	1	EPHA8	1	22903359	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1101932	22903359	226347262	5	30573											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	107	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-IB-A6UG-01A-32D-A33T-08	84026	22987385	226263236	6	30574											
GJA4	2701	broad.mit.edu	37	chr1	35260163	35260163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggagctgcgggcactgCcggccaaggacccacaggtg	18	12	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:35260163C>T	ENST00000342280.4	+	2	437	c.349C>T	c.(349-351)Ccg>Tcg	p.P117S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	117					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCGGGCACTGCCGGCCAAGGA	0.667													False	0	False	1:35260163	0	T	35260163	C	T	35260163	3	4	107	1	0	0	0	0	1	0	0	0	6448	739	26	2	351	2	GJA4	1	35260163	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	12272778	35260163	213990458	7	30575											
PTPRF	5792	broad.mit.edu	37	chr1	44069169	44069169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaagggggatggtgcccGcagcaagcccaaaattgtca	12	12	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:44069169G>A	ENST00000359947.4	+	15	2763	c.2423G>A	c.(2422-2424)cGc>cAc	p.R808H	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.R156H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R799H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R808H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R799H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	808	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GATGGTGCCCGCAGCAAGCCC	0.632													False	0	True	1:44069169	0	A	44069169	G	A	44069169	3	1	107	1	0	0	0	0	1	0	0	0	12880	1087	38	1	2473	1	PTPRF	1	44069169	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8809006	44069169	205181452	8	30576											
DEPDC1	55635	broad.mit.edu	37	chr1	68947194	68947194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcattcgggaaatcatacGcattaaaagttgaagctttc	7	8	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:68947194G>A	ENST00000456315.2	-	9	1978	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R338C|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	622	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GAAATCATACGCATTAAAAGT	0.398													False	0	False	1:68947194	0	A	68947194	G	A	68947194	3	1	107	1	0	0	0	0	1	0	0	0	4469	1087	38	1	587	1	DEPDC1	1	68947194	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	24878025	68947194	180303427	9	30577											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	107	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-IB-A6UG-01A-32D-A33T-08	83724321	152671515	96579106	10	30578											
CHRNB2	1141	broad.mit.edu	37	chr1	154543680	154543680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgctgacggcatgtaCgaggtgtccttctattccaa	12	10	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:154543680C>T	ENST00000368476.3	+	5	645	c.381C>T	c.(379-381)taC>taT	p.Y127Y		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	127					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACGGCATGTACGAGGTGTCCT	0.552													False	0	False	1:154543680	0	T	154543680	C	T	154543680	2	4	107	1	0	0	0	0	0	0	0	1	3414	547	19	1		1	CHRNB2	1	154543680	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	1872165	154543680	94706941	11	30579											
NME7	29922	broad.mit.edu	37	chr1	169256604	169256604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaaatttagcagtgtttgCcggcccacaacctccacttg	8	12	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:169256604C>T	ENST00000367811.3	-	7	947	c.691G>A	c.(691-693)Gca>Aca	p.A231T	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.A195T	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	231					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	p.A231T(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GCAGTGTTTGCCGGCCCACAA	0.358													False	0	False	1:169256604	0	T	169256604	C	T	169256604	3	4	107	1	0	0	0	0	1	0	0	0	10564	739	26	2	463	2	NME7	1	169256604	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	14712924	169256604	79994017	12	30580											
TNR	7143	broad.mit.edu	37	chr1	175292513	175292513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaactgtaaggactgccGttttctccctgccatgagac	9	12	2	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:175292513G>A	ENST00000367674.2	-	23	4765	c.4057C>T	c.(4057-4059)Cgg>Tgg	p.R1353W	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.R1353W			Q92752	TENR_HUMAN	tenascin R						axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGGACTGCCGTTTTCTCCCT	0.478													False	0	True	1:175292513	0	A	175292513	G	A	175292513	3	1	107	1	0	0	0	0	1	0	0	0	16420	1144	40	1	23	1	TNR	1	175292513	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	6035909	175292513	73958108	13	30581											
LAX1	54900	broad.mit.edu	37	chr1	203739994	203739994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacatcttttccgggtttgCgggactcctcgccatcctcc	8	16	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:203739994C>T	ENST00000442561.2	+	2	518	c.128C>T	c.(127-129)gCg>gTg	p.A43V	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.A27V	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	43					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.A43V(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCGGGTTTGCGGGACTCCTC	0.483													False	0	True	1:203739994	0	T	203739994	C	T	203739994	3	4	107	1	0	0	0	0	1	0	0	0	8699	768	27	1	179	1	LAX1	1	203739994	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	28447481	203739994	45510627	14	30582											
SUSD4	55061	broad.mit.edu	37	chr1	223465929	223465929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaaagaaaacccctccGctgggggtcctgaagccatt	9	14	1	2	rs148470082		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:223465929G>A	ENST00000343846.3	-	2	846	c.213C>T	c.(211-213)agC>agT	p.S71S	SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.S71S|SUSD4_ENST00000494793.2_Silent_p.S71S|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Silent_p.S71S			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	71	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AAACCCCTCCGCTGGGGGTCC	0.498													False	0	False	1:223465929	0	A	223465929	G	A	223465929	2	1	107	1	0	0	0	0	0	0	0	1	15492	1078	38	1		1	SUSD4	1	223465929	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	19725935	223465929	25784692	15	30583											
TRIM58	25893	broad.mit.edu	37	chr1	248028136	248028136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgacgctgcagagactgCgggagagcaagagccggctg	18	10	0	3	rs28361506		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:248028136C>T	ENST00000366481.3	+	3	694	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	216						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGACTGCGGGAGAGCAA	0.662													False	0	True	1:248028136	0	T	248028136	C	T	248028136	3	4	107	1	0	0	0	0	1	0	0	0	16614	759	27	1	656	1	TRIM58	1	248028136	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	24562207	248028136	1222485	16	30584											
POMC	5443	broad.mit.edu	37	chr2	25384428	25384428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggccgcagtcttcgcccGctgagacgtcctcgcgcttc	13	17	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:25384428G>A	ENST00000405623.1	-	3	781	c.326C>T	c.(325-327)gCg>gTg	p.A109V	POMC_ENST00000264708.3_Missense_Mutation_p.A109V|POMC_ENST00000395826.2_Missense_Mutation_p.A109V|POMC_ENST00000380794.1_Missense_Mutation_p.A109V			P01189	COLI_HUMAN	proopiomelanocortin	109					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GTCTTCGCCCGCTGAGACGTC	0.721													False	0	True	2:25384428	0	A	25384428	G	A	25384428	3	1	107	1	0	0	0	0	1	0	0	0	12311	1087	38	1	481	1	POMC	2	25384428	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		25384428	217814945	17	30585											
MERTK	10461	broad.mit.edu	37	chr2	112785977	112785977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgatcccttagaccgccccAccttttcagtattgaggctg	8	15	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:112785977A>G	ENST00000295408.4	+	19	2793	c.2536A>G	c.(2536-2538)Acc>Gcc	p.T846A	MERTK_ENST00000409780.1_Missense_Mutation_p.T670A|MERTK_ENST00000421804.2_Missense_Mutation_p.T846A			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	846	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGACCGCCCCACCTTTTCAGT	0.443													False	0	True	2:112785977	0	G	112785977	A	G	112785977	3	3	107	1	0	0	0	0	1	0	0	0	9546	159	6	4	2610	4	MERTK	2	112785977	Missense_Mutation	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	87401549	112785977	130413396	18	30586											
SCN3A	6328	broad.mit.edu	37	chr2	166018859	166018859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagtaaagggtctttttgCccatccaaaacataaaagtg	8	8	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:166018859C>T	ENST00000360093.3	-	9	1481	c.990G>A	c.(988-990)ggG>ggA	p.G330G	SCN3A_ENST00000283254.7_Silent_p.G330G|SCN3A_ENST00000409101.3_Silent_p.G330G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	330						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GGTCTTTTTGCCCATCCAAAA	0.294													False	0	True	2:166018859	0	T	166018859	C	T	166018859	2	4	107	1	0	0	0	0	0	0	0	1	13999	726	26	2		2	SCN3A	2	166018859	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	53232882	166018859	77180514	19	30587											
SCN2A	6326	broad.mit.edu	37	chr2	166245632	166245632	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtggtgaacatgtacatCgcggtcatcctggagaactt	12	8	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:166245632C>T	ENST00000375437.2	+	27	5606	c.5316C>T	c.(5314-5316)atC>atT	p.I1772I	SCN2A_ENST00000375427.2_Silent_p.I1772I|SCN2A_ENST00000283256.6_Silent_p.I1772I|SCN2A_ENST00000357398.3_Silent_p.I1772I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1772					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACATGTACATCGCGGTCATCC	0.443													False	0	False	2:166245632	0	T	166245632	C	T	166245632	2	4	107	1	0	0	0	0	0	0	0	1	13997	874	31	1		1	SCN2A	2	166245632	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	226773	166245632	76953741	20	30588											
HECW2	57520	broad.mit.edu	37	chr2	197135945	197135945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgattcctggtaagatcagGttgacgctcctgtagaattt	11	7	1	4			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:197135945G>A	ENST00000260983.3	-	17	3489	c.3307C>T	c.(3307-3309)Cct>Tct	p.P1103S	HECW2_ENST00000409111.1_Missense_Mutation_p.P747S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTAAGATCAGGTTGACGCTCC	0.328													False	0	False	2:197135945	0	A	197135945	G	A	197135945	3	1	107	1	0	0	0	0	1	0	0	0	7090	1261	44	2	1463	2	HECW2	2	197135945	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	30890313	197135945	46063428	21	30589											
NRP2	8828	broad.mit.edu	37	chr2	206628415	206628415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgacaggaatttcttgCggctgcagagtgacagccag	13	9	1	4			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:206628415C>T	ENST00000360409.3	+	13	2853	c.2062C>T	c.(2062-2064)Cgg>Tgg	p.R688W	NRP2_ENST00000540178.1_Missense_Mutation_p.R688W|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000357118.4_Missense_Mutation_p.R688W|NRP2_ENST00000357785.5_Missense_Mutation_p.R688W|NRP2_ENST00000540841.1_Missense_Mutation_p.R688W|AC007362.3_ENST00000598710.1_RNA|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000272849.3_Missense_Mutation_p.R688W|NRP2_ENST00000412873.2_Missense_Mutation_p.R688W	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	688	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAATTTCTTGCGGCTGCAGAG	0.572											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:206628415	0	T	206628415	C	T	206628415	3	4	107	1	0	0	0	0	1	0	0	0	10729	759	27	1	2139	1	NRP2	2	206628415	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	9492470	206628415	36570958	22	30590											
CREB1	1385	broad.mit.edu	37	chr2	208461780	208461780	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttactgccacaaatcagatTaatttgggatttaaattttc	5	6	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:208461780T>G	ENST00000432329.2	+	9	1275	c.1024T>G	c.(1024-1026)Taa>Gaa	p.*342E	CREB1_ENST00000430624.1_Nonstop_Mutation_p.*328E|CREB1_ENST00000353267.3_Nonstop_Mutation_p.*328E|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000425132.1_Intron|CREB1_ENST00000374397.4_Nonstop_Mutation_p.*231E	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	0					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	CAAATCAGATTAATTTGGGAT	0.338			T	EWSR1	"clear cell sarcoma, angiomatoid fibrous histiocytoma"								False	0	False	2:208461780	0	G	208461780	T	G	208461780	4	3	107	1	0	0	0	0	0	0	0	0	3877	1767	61	4	1054	4	CREB1	2	208461780	Nonstop_Mutation	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	1833365	208461780	34737593	23	30591											
CCDC108	255101	broad.mit.edu	37	chr2	219870881	219870881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaggacacctcctcctttGgggtctgcagtttccagctg	11	14	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:219870881G>T	ENST00000341552.5	-	31	4867	c.4784C>A	c.(4783-4785)cCa>cAa	p.P1595Q	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1595Q|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1595Q|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1595						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCTCCTTTGGGGTCTGCAG	0.622													False	0	True	2:219870881	0	T	219870881	G	T	219870881	3	4	107	1	0	0	0	0	1	0	0	0	2763	1348	47	3	1013	3	CCDC108	2	219870881	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	11409101	219870881	23328492	24	30592											
TMEM198	130612	broad.mit.edu	37	chr2	220414551	220414551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggggacctctgacagcctGctcaggccccccagtgcggg	14	17	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:220414551G>T	ENST00000344458.2	+	6	1643	c.1058G>T	c.(1057-1059)tGc>tTc	p.C353F	TMEM198_ENST00000373883.3_Missense_Mutation_p.C353F			Q66K66	TM198_HUMAN	transmembrane protein 198	353						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGACAGCCTGCTCAGGCCCC	0.627													False	0	False	2:220414551	0	T	220414551	G	T	220414551	3	4	107	1	0	0	0	0	1	0	0	0	16201	1319	46	3	1072	3	TMEM198	2	220414551	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	543670	220414551	22784822	25	30593											
SPHKAP	80309	broad.mit.edu	37	chr2	228996774	228996774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctgcggttccaaaacGtcatacatccgtgatgactc	8	14	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:228996774G>A	ENST00000392056.3	-	2	106	c.60C>T	c.(58-60)gaC>gaT	p.D20D	SPHKAP_ENST00000344657.5_Silent_p.D20D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	20						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTCCAAAACGTCATACATCC	0.463													False	0	False	2:228996774	0	A	228996774	G	A	228996774	2	1	107	1	0	0	0	0	0	0	0	1	15130	1136	40	1		1	SPHKAP	2	228996774	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8582223	228996774	14202599	26	30594											
KIF1A	547	broad.mit.edu	37	chr2	241679772	241679772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggtggtccaccacggcCgggatgtaactggaagagag	15	11	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:241679772C>T	ENST00000498729.2	-	36	4005	c.3759G>A	c.(3757-3759)ccG>ccA	p.P1253P	KIF1A_ENST00000320389.7_Silent_p.P1152P	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1152					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCACCACGGCCGGGATGTAAC	0.652													False	0	True	2:241679772	0	T	241679772	C	T	241679772	2	4	107	1	0	0	0	0	0	0	0	1	8333	639	23	1		1	KIF1A	2	241679772	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	12682998	241679772	1519601	27	30595											
TRANK1	9881	broad.mit.edu	37	chr3	36896676	36896676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacttacctgagtgggaccTgtaattctggtacagctggt	13	8	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:36896676T>C	ENST00000429976.2	-	12	4652	c.4405A>G	c.(4405-4407)Agg>Ggg	p.R1469G	TRANK1_ENST00000301807.6_Missense_Mutation_p.R919G|TRANK1_ENST00000428977.2_Missense_Mutation_p.R919G	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1469					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAGTGGGACCTGTAATTCTGG	0.527													False	0	False	3:36896676	0	C	36896676	T	C	36896676	3	2	107	1	0	0	0	0	1	0	0	0	16537	1579	55	4	4420	4	TRANK1	3	36896676	Missense_Mutation	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08		36896676	161125754	28	30596											
CACNA1D	776	broad.mit.edu	37	chr3	53757658	53757658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgtgtttcggtgtgtgCgcctcttaagaatcttcaaa	9	9	4	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:53757658C>T	ENST00000288139.4	+	14	2042	c.1924C>T	c.(1924-1926)Cgc>Tgc	p.R642C	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R622C|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R622C	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCGGTGTGTGCGCCTCTTAAG	0.512													False	0	True	3:53757658	0	T	53757658	C	T	53757658	3	4	107	1	0	0	0	0	1	0	0	0	2561	768	27	1	2086	1	CACNA1D	3	53757658	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	16860982	53757658	144264772	29	30597											
PDZRN3	23024	broad.mit.edu	37	chr3	73433515	73433515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagctcgtgtctgcgcacGtcgatgctggtgttgtagtt	15	8	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:73433515G>A	ENST00000263666.4	-	10	2316	c.2202C>T	c.(2200-2202)gaC>gaT	p.D734D	PDZRN3_ENST00000462146.2_Silent_p.D391D|PDZRN3_ENST00000535920.1_Silent_p.D456D|PDZRN3_ENST00000466780.1_Silent_p.D391D|PDZRN3_ENST00000479530.1_Silent_p.D451D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	734							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTCTGCGCACGTCGATGCTGG	0.612													False	0	False	3:73433515	0	A	73433515	G	A	73433515	2	1	107	1	0	0	0	0	0	0	0	1	11777	1136	40	1		1	PDZRN3	3	73433515	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	19675857	73433515	124588915	30	30598											
PDZRN3	23024	broad.mit.edu	37	chr3	73434878	73434878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgctcctccagcatgTccatgtgcaggtcatccaga	11	13	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:73434878T>C	ENST00000263666.4	-	9	1691	c.1577A>G	c.(1576-1578)gAc>gGc	p.D526G	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D183G|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D248G|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D183G|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D243G	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	526							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCCAGCATGTCCATGTGCAG	0.567													False	0	False	3:73434878	0	C	73434878	T	C	73434878	3	2	107	1	0	0	0	0	1	0	0	0	11777	1667	58	4	1631	4	PDZRN3	3	73434878	Missense_Mutation	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	1363	73434878	124587552	31	30599											
KIAA1407	57577	broad.mit.edu	37	chr3	113755633	113755633	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctccaaatagccacataaaTctgggggaaacagaacaaca	7	11	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:113755633T>A	ENST00000295878.3	-	5	562	c.416A>T	c.(415-417)gAt>gTt	p.D139V	KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	139										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCACATAAATCTGGGGGAAA	0.294													False	0	True	3:113755633	0	A	113755633	T	A	113755633	5	1	107	1	0	0	0	0	0	0	1	0	8279	1449	50	5	2446	5	KIAA1407	3	113755633	Splice_Site	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	40320755	113755633	84266797	32	30600											
SEC24D	9871	broad.mit.edu	37	chr4	119686069	119686069	+	Frame_Shift_Del	DEL	G	G	-													gatgttggaaatagaatggtGgaactaataaaaacaaaata							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:119686069delG	ENST00000511481.1	-	3	219	c.77delC	c.(76-78)ccafs	p.P27fs	SEC24D_ENST00000280551.6_Frame_Shift_Del_p.P396fs|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000379735.5_Frame_Shift_Del_p.P397fs|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	396	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATAGAATGGTGGAACTAATAA	0.323													False	2	False	4:119686069	0	-	119686069	G	-	119686069	7	5	107	1	0	1	0	1	0	0	0	0	14078	1348	47	0	1970	0	SEC24D	4	119686069	Frame_Shift_Del	DEL	G	TCGA-IB-A6UG-01A-32D-A33T-08		119686069	71468207	33	30601											
TRPC3	7222	broad.mit.edu	37	chr4	122846207	122846207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttaatggcaagtttgacaCgacttaatgaagctttgtgc	9	7	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:122846207C>T	ENST00000264811.5	-	2	1341	c.923G>A	c.(922-924)cGt>cAt	p.R308H	TRPC3_ENST00000379645.3_Missense_Mutation_p.R381H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R308H	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	296					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R308P(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGTTTGACACGACTTAATGA	0.423													False	0	False	4:122846207	0	T	122846207	C	T	122846207	3	4	107	1	0	0	0	0	1	0	0	0	16662	536	19	1	1663	1	TRPC3	4	122846207	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3160138	122846207	68308069	34	30602											
C4orf46	201725	broad.mit.edu	37	chr4	159592816	159592816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggtccaccgttgggccGctgctcctgctcggaactgg	14	14	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:159592816G>A	ENST00000379205.4	-	1	382	c.138C>T	c.(136-138)agC>agT	p.S46S	C4orf46_ENST00000508836.1_Intron|C4orf46_ENST00000508457.1_Silent_p.S46S	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	46										kidney(1)|lung(3)|skin(1)	5						CCGTTGGGCCGCTGCTCCTGC	0.687													False	0	False	4:159592816	0	A	159592816	G	A	159592816	2	1	107	1	0	0	0	0	0	0	0	1	2291	1078	38	1		1	C4orf46	4	159592816	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	36746609	159592816	31561460	35	30603											
SLC12A7	10723	broad.mit.edu	37	chr5	1083957	1083957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgctgggctgggagccGttgcagaagaggccccagag	19	11	0	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:1083957G>A	ENST00000264930.5	-	8	1075	c.1032C>T	c.(1030-1032)aaC>aaT	p.N344N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	344					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCTGGGAGCCGTTGCAGAAGA	0.647													False	0	False	5:1083957	0	A	1083957	G	A	1083957	2	1	107	1	0	0	0	0	0	0	0	1	14469	1136	40	1		1	SLC12A7	5	1083957	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		1083957	179831303	36	30604											
SLC6A18	348932	broad.mit.edu	37	chr5	1246093	1246093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcacccggcggaggcGgacgtggagggacagggacg	20	11	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:1246093G>A	ENST00000324642.3	+	12	1910	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	596					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGGCGGAGGCGGACGTGGAGG	0.731													False	0	True	5:1246093	0	A	1246093	G	A	1246093	3	1	107	1	0	0	0	0	1	0	0	0	14761	1116	39	1	1833	1	SLC6A18	5	1246093	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	162136	1246093	179669167	37	30605											
ADAMTS16	170690	broad.mit.edu	37	chr5	5191804	5191804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtccttcacaggatttgCacccataagtggaatgtgta	9	8	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:5191804C>T	ENST00000274181.7	+	8	1352	c.1214C>T	c.(1213-1215)gCa>gTa	p.A405V	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.A405V	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	405	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACAGGATTTGCACCCATAAGT	0.388													False	0	False	5:5191804	0	T	5191804	C	T	5191804	3	4	107	1	0	0	0	0	1	0	0	0	261	710	25	2	1244	2	ADAMTS16	5	5191804	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3945711	5191804	175723456	38	30606											
DNAH5	1767	broad.mit.edu	37	chr5	13776708	13776708	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgactcatgaagtagtcGtgcaggttctcattggtagg	12	9	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:13776708G>A	ENST00000265104.4	-	55	9317	c.9213C>T	c.(9211-9213)caC>caT	p.H3071H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3071	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGAAGTAGTCGTGCAGGTTCT	0.468									Kartagener syndrome				False	0	False	5:13776708	0	A	13776708	G	A	13776708	2	1	107	1	0	0	0	0	0	0	0	1	4634	1136	40	1		1	DNAH5	5	13776708	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8584904	13776708	167138552	39	30607											
FBXL7	23194	broad.mit.edu	37	chr5	15928366	15928366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacgggcgagaccatcaaCgtggaccgcgccctcaaggt	13	14	2	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:15928366C>T	ENST00000504595.1	+	3	976	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FBXL7_ENST00000329673.7_Silent_p.N153N|FBXL7_ENST00000510662.1_Silent_p.N118N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	165					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGACCATCAACGTGGACCGCG	0.667													False	0	False	5:15928366	0	T	15928366	C	T	15928366	2	4	107	1	0	0	0	0	0	0	0	1	5764	535	19	1		1	FBXL7	5	15928366	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	2151658	15928366	164986894	40	30608											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576636	33576636	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttcatctttgtcctcaggCtgttctctttcttcccctga	5	14	5	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:33576636C>A	ENST00000504830.1	-	19	3830	c.3495G>T	c.(3493-3495)caG>caT	p.Q1165H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1080H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1165	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTCCTCAGGCTGTTCTCTTT	0.473										HNSCC(64;0.19)			False	0	False	5:33576636	0	A	33576636	C	A	33576636	3	1	107	1	0	0	0	0	1	0	0	0	257	796	28	3	1313	3	ADAMTS12	5	33576636	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	17648270	33576636	147338624	41	30609											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	107	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-IB-A6UG-01A-32D-A33T-08	45033808	78610444	102304816	42	30610											
PCDHA10	0	broad.mit.edu	37	chr5	140236911	140236911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgagctggtggtgaccgcGcgggacgggggctcgcctcc	18	12	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:140236911G>A	ENST00000307360.5	+	1	1278	c.1278G>A	c.(1276-1278)gcG>gcA	p.A426A	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.A426A|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGACCGCGCGGGACGGGG	0.647													False	0	True	5:140236911	0	A	140236911	G	A	140236911	2	1	107	1	0	0	0	0	0	0	0	1	11588	1074	38	1		1	PCDHA10	5	140236911	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	61626467	140236911	40678349	43	30611											
GRIA1	0	broad.mit.edu	37	chr5	153174277	153174277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaagggcgagtgcggcagCgggggaggtgattccaaggt	20	7	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:153174277C>T	ENST00000285900.5	+	14	2710	c.2367C>T	c.(2365-2367)agC>agT	p.S789S	GRIA1_ENST00000521843.2_Silent_p.S720S|GRIA1_ENST00000518783.1_Silent_p.S799S|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Silent_p.S709S|GRIA1_ENST00000448073.4_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	789					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGTGCGGCAGCGGGGGAGGTG	0.463													False	0	True	5:153174277	0	T	153174277	C	T	153174277	2	4	107	1	0	0	0	0	0	0	0	1	6814	767	27	1		1	GRIA1	5	153174277	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	12937366	153174277	27740983	44	30612											
KIF4B	285643	broad.mit.edu	37	chr5	154393886	154393886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcttctatgcccatctcGtgagaaagctcaaataaata	7	9	4	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:154393886G>A	ENST00000435029.4	+	1	627	c.467G>A	c.(466-468)cGt>cAt	p.R156H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	156	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R156L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCCCATCTCGTGAGAAAGCT	0.358													False	0	False	5:154393886	0	A	154393886	G	A	154393886	3	1	107	1	0	0	0	0	1	0	0	0	8354	1145	40	1	469	1	KIF4B	5	154393886	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1219609	154393886	26521374	45	30613											
FLT4	2324	broad.mit.edu	37	chr5	180051060	180051060	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgctgctgccgccgccGgctgccaggaccagaagagg	15	14	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:180051060G>A	ENST00000261937.6	-	11	1501	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	FLT4_ENST00000502649.1_Splice_Site_p.R475W|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Splice_Site_p.R475W	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	475	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCGCCGCCGGCTGCCAGGA	0.647													False	0	True	5:180051060	0	A	180051060	G	A	180051060	5	1	107	1	0	0	0	0	0	0	1	0	5984	1130	39	1	2756	1	FLT4	5	180051060	Splice_Site	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	25657174	180051060	864200	46	30614											
DAXX	1616	broad.mit.edu	37	chr6	33289539	33289539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttgtagcatttcttgCcgcccgaactactgcttcct	7	15	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:33289539C>T	ENST00000374542.5	-	2	368	c.164G>A	c.(163-165)gGc>gAc	p.G55D	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.G55D	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	55	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATTTCTTGCCGCCCGAACT	0.602			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								False	0	False	6:33289539	0	T	33289539	C	T	33289539	3	4	107	1	0	0	0	0	1	0	0	0	4268	739	26	2	2086	2	DAXX	6	33289539	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		33289539	137825528	47	30615											
KIF6	221458	broad.mit.edu	37	chr6	39513398	39513398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaactttacgcatatcCgcgccaacctctaatctact	5	13	2	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:39513398C>T	ENST00000287152.7	-	11	1342	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	KIF6_ENST00000373215.3_Silent_p.A416A|KIF6_ENST00000373213.4_Silent_p.A255A|KIF6_ENST00000373216.3_Silent_p.A416A|KIF6_ENST00000538893.1_Silent_p.A416A	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	416					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TACGCATATCCGCGCCAACCT	0.363													False	0	False	6:39513398	0	T	39513398	C	T	39513398	2	4	107	1	0	0	0	0	0	0	0	1	8358	639	23	1		1	KIF6	6	39513398	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	6223859	39513398	131601669	48	30616											
YIPF3	25844	broad.mit.edu	37	chr6	43483392	43483392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggatgtcgatgttggcGtacaagctgaaggccctgga	15	8	0	2	rs140780761	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:43483392G>A	ENST00000372422.2	-	3	518	c.336C>T	c.(334-336)taC>taT	p.Y112Y	YIPF3_ENST00000506469.1_Silent_p.Y118Y	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	112					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CGATGTTGGCGTACAAGCTGA	0.517													False	0	False	6:43483392	0	A	43483392	G	A	43483392	2	1	107	1	0	0	0	0	0	0	0	1	17563	1140	40	1		1	YIPF3	6	43483392	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	3969994	43483392	127631675	49	30617											
GABRR2	2570	broad.mit.edu	37	chr6	89974189	89974189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaggtagttgacagccGcatactccagcaccgagagg	13	11	1	2	rs149245573	by1000genomes	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:89974189G>A	ENST00000402938.3	-	8	1161	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	368					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.A343V(3)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GTTGACAGCCGCATACTCCAG	0.597													False	0	False	6:89974189	0	A	89974189	G	A	89974189	3	1	107	1	0	0	0	0	1	0	0	0	6219	1087	38	1	377	1	GABRR2	6	89974189	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	46490797	89974189	81140878	50	30618											
CUX1	1523	broad.mit.edu	37	chr7	101844663	101844663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccggcccagccttcctccGcatccggcagcgggaactct	11	18	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:101844663G>A	ENST00000360264.3	+	18	2139	c.2119G>A	c.(2119-2121)Gca>Aca	p.A707T	CUX1_ENST00000292535.7_Missense_Mutation_p.A696T|CUX1_ENST00000550008.2_Missense_Mutation_p.A640T|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A538T|CUX1_ENST00000546411.2_Missense_Mutation_p.A594T|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.A674T	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	696					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCTTCCTCCGCATCCGGCAG	0.642													False	0	False	7:101844663	0	A	101844663	G	A	101844663	3	1	107	1	0	0	0	0	1	0	0	0	4089	1087	38	1	2223	1	CUX1	7	101844663	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		101844663	57294000	51	30619											
SSPO	23145	broad.mit.edu	37	chr7	149500902	149500902	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgagggccaggttcagGtgtgcgacaggggtggacgg	22	6	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:149500902G>T	ENST00000378016.2	+	0	8219							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGTTCAGGTGTGCGACAG	0.697													False	0	False	7:149500902	0	T	149500902	G	T	149500902	1	4	107	0	1	0	0	0	0	0	0	0	15271	1275	44	3		3	SSPO	7	149500902	RNA	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	47656239	149500902	9637761	52	30620											
ADRA1A	148	broad.mit.edu	37	chr8	26627895	26627895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccattcacaaacgccatccGtcttggagatcctgtagaag	8	12	2	2	rs151273238	by1000genomes	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:26627895G>A	ENST00000380573.3	-	3	2195	c.1172C>T	c.(1171-1173)aCg>aTg	p.T391M	ADRA1A_ENST00000276393.4_Missense_Mutation_p.T391M|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Missense_Mutation_p.T391M|ADRA1A_ENST00000380586.1_Missense_Mutation_p.T391M|ADRA1A_ENST00000380582.3_Missense_Mutation_p.T391M|ADRA1A_ENST00000354550.4_Missense_Mutation_p.T391M			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	391					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AACGCCATCCGTCTTGGAGAT	0.562													False	0	False	8:26627895	0	A	26627895	G	A	26627895	3	1	107	1	0	0	0	0	1	0	0	0	334	1145	40	1	523	1	ADRA1A	8	26627895	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		26627895	119736127	53	30621											
FZD3	7976	broad.mit.edu	37	chr8	28385210	28385210	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaattcttaccatcacatgGtttttagcagctgtgccaaa	7	9	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:28385210G>T	ENST00000240093.3	+	5	1411	c.933G>T	c.(931-933)tgG>tgT	p.W311C	FZD3_ENST00000537916.1_Missense_Mutation_p.W311C	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	311					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CCATCACATGGTTTTTAGCAG	0.433													False	0	True	8:28385210	0	T	28385210	G	T	28385210	3	4	107	1	0	0	0	0	1	0	0	0	6173	1270	44	3	943	3	FZD3	8	28385210	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1757315	28385210	117978812	54	30622											
RGS20	8601	broad.mit.edu	37	chr8	54793583	54793583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcgggacgcatgcgcaCggcggacggaggcgagccgg	19	14	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:54793583C>T	ENST00000276500.4	+	1	130	c.8C>T	c.(7-9)aCg>aTg	p.T3M	RGS20_ENST00000297313.3_Intron|RGS20_ENST00000344277.6_Intron|RGS20_ENST00000522225.1_5'UTR	NM_003702.3	NP_003693.2	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	0					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CGCATGCGCACGGCGGACGGA	0.672													False	0	False	8:54793583	0	T	54793583	C	T	54793583	3	4	107	1	0	0	0	0	1	0	0	0	13382	536	19	1	528	1	RGS20	8	54793583	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	26408373	54793583	91570439	55	30623											
MRPL15	29088	broad.mit.edu	37	chr8	55049226	55049226	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtttaacgaaggacatagGtaaggttgctttgcttttta	12	4	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:55049226G>A	ENST00000260102.4	+	2	337		c.e2+1			NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15						translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			AAGGACATAGGTAAGGTTGCT	0.418													False	0	False	8:55049226	0	A	55049226	G	A	55049226	5	1	107	1	0	0	0	0	0	0	1	0	9847	1275	44	2	270	2	MRPL15	8	55049226	Splice_Site	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	255643	55049226	91314796	56	30624											
MMP16	4325	broad.mit.edu	37	chr8	89198805	89198805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtctggtcaggtacacCgcatcggggcttcttcatcc	10	13	5	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:89198805C>T	ENST00000286614.6	-	3	585	c.304G>A	c.(304-306)Ggt>Agt	p.G102S	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	102					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCAGGTACACCGCATCGGGGC	0.378													False	0	False	8:89198805	0	T	89198805	C	T	89198805	3	4	107	1	0	0	0	0	1	0	0	0	9722	652	23	1	1707	1	MMP16	8	89198805	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	34149579	89198805	57165217	57	30625											
RAD54B	25788	broad.mit.edu	37	chr8	95419794	95419794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaacctgagaagaatgCgagatagcagtacttcctcc	10	11	0	3	rs113276250	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:95419794C>T	ENST00000336148.5	-	5	778	c.654G>A	c.(652-654)tcG>tcA	p.S218S		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GAGAAGAATGCGAGATAGCAG	0.398								Direct reversal of damage;Homologous recombination					False	0	False	8:95419794	0	T	95419794	C	T	95419794	2	4	107	1	0	0	0	0	0	0	0	1	13071	755	27	1		1	RAD54B	8	95419794	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	6220989	95419794	50944228	58	30626											
PABPC1	26986	broad.mit.edu	37	chr8	101719035	101719036	+	Splice_Site	DEL	TA	TA	-													gtctgtgttgatgtgttagcTaaaaaataagaacattttgt							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:101719035_101719036delTA	ENST00000318607.5	-	11	2576		c.e11-2		PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000522387.1_Splice_Site	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATGTGTTAGCTAAAAAATAAGA	0.426													False	1	True	8:101719035	0	-	101719036	TA	-	101719035	8	5	107	1	0	1	0	1	0	0	1	0	11431	1536	53	0	480	0	PABPC1	8	101719035	Splice_Site	DEL	TA	TCGA-IB-A6UG-01A-32D-A33T-08	6299241	101719035	44644987	59	30627											
FER1L6	654463	broad.mit.edu	37	chr8	125035751	125035751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagagtggcctatgcccGcatcgcctccaaagacctcc	10	16	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:125035751G>A	ENST00000522917.1	+	18	2407	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R734H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	734						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCTATGCCCGCATCGCCTCC	0.527													False	0	True	8:125035751	0	A	125035751	G	A	125035751	3	1	107	1	0	0	0	0	1	0	0	0	5855	1087	38	1	2267	1	FER1L6	8	125035751	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	23316716	125035751	21328271	60	30628											
COL22A1	169044	broad.mit.edu	37	chr8	139737642	139737642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcttaccggagaacctccCggtccaggggggcctgggac	15	13	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:139737642C>T	ENST00000303045.6	-	24	2627	c.2181G>A	c.(2179-2181)ccG>ccA	p.P727P	COL22A1_ENST00000435777.1_Silent_p.P727P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	727	Collagen-like 5.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAGAACCTCCCGGTCCAGGGG	0.582										HNSCC(7;0.00092)			False	0	True	8:139737642	0	T	139737642	C	T	139737642	2	4	107	1	0	0	0	0	0	0	0	1	3704	639	23	1		1	COL22A1	8	139737642	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	14701891	139737642	6626380	61	30629											
KIAA1432	57589	broad.mit.edu	37	chr9	5765691	5765691	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaagtggtggatttgagttCttcaggaatcgaagcatcag	12	6	4	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:5765691C>T	ENST00000414202.2	+	21	3221	c.3030C>T	c.(3028-3030)ttC>ttT	p.F1010F	KIAA1432_ENST00000251879.6_Silent_p.F1010F|KIAA1432_ENST00000381532.2_Silent_p.F931F|KIAA1432_ENST00000418622.3_Silent_p.F931F|KIAA1432_ENST00000449720.2_Silent_p.F894F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1010						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GATTTGAGTTCTTCAGGAATC	0.433													False	0	False	9:5765691	0	T	5765691	C	T	5765691	2	4	107	1	0	0	0	0	0	0	0	1	8283	912	32	2		2	KIAA1432	9	5765691	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		5765691	135447740	62	30630											
PTPRD	5789	broad.mit.edu	37	chr9	8518207	8518207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcccaatgttattgacaGcaacaaccctgaattcataa	5	13	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:8518207G>A	ENST00000381196.4	-	18	1727	c.1184C>T	c.(1183-1185)gCt>gTt	p.A395V	PTPRD_ENST00000358503.5_Missense_Mutation_p.A382V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A385V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A395V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A385V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A395V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A392V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A382V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A395V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A395V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A392V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	395	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTATTGACAGCAACAACCCT	0.527										TSP Lung(15;0.13)			False	0	False	9:8518207	0	A	8518207	G	A	8518207	3	1	107	1	0	0	0	0	1	0	0	0	12878	971	34	2	4726	2	PTPRD	9	8518207	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2752516	8518207	132695224	63	30631											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	23	8	0	1	rs121913388		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21971120	0	A	21971120	G	A	21971120	4	1	107	1	0	0	0	0	0	1	0	0	3184	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	13452913	21971120	119242311	64	30632											
PRPF4	9128	broad.mit.edu	37	chr9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaacctggcctcttgtgCggctgatggctctgtgaagc	13	11	3	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:116049072C>T	ENST00000374199.4	+	9	1297	c.896C>T	c.(895-897)gCg>gTg	p.A299V	PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468													False	0	False	9:116049072	0	T	116049072	C	T	116049072	3	4	107	1	0	0	0	0	1	0	0	0	12646	768	27	1	933	1	PRPF4	9	116049072	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	94077952	116049072	25164359	65	30633											
COL27A1	85301	broad.mit.edu	37	chr9	117029789	117029789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttttctttcaggggccGcctggtgcagtgggagaacc	16	10	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:117029789G>A	ENST00000356083.3	+	34	3844	c.3453G>A	c.(3451-3453)ccG>ccA	p.P1151P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1151	Collagen-like 9.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTCAGGGGCCGCCTGGTGCAG	0.562													False	0	False	9:117029789	0	A	117029789	G	A	117029789	2	1	107	1	0	0	0	0	0	0	0	1	3708	1074	38	1		1	COL27A1	9	117029789	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	980717	117029789	24183642	66	30634											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508147	37508147	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caatatagtgggcagcttaaAgttctgatagctgagaacac	10	7	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:37508147A>T	ENST00000374660.1	+	40	3795	c.3696A>T	c.(3694-3696)aaA>aaT	p.K1232N	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K1113N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K1113N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGCAGCTTAAAGTTCTGATAG	0.353													False	0	True	10:37508147	0	T	37508147	A	T	37508147	3	4	107	1	0	0	0	0	1	0	0	0	658	69	3	5	3473	5	ANKRD30A	10	37508147	Missense_Mutation	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08		37508147	98026600	67	30635											
NEUROG3	50674	broad.mit.edu	37	chr10	71332359	71332359	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccggcggctccagcgcGtacaagctgtggtccgctat	15	14	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:71332359G>A	ENST00000242462.4	-	2	470	c.441C>T	c.(439-441)taC>taT	p.Y147Y		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	147					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						GCTCCAGCGCGTACAAGCTGT	0.682													False	0	False	10:71332359	0	A	71332359	G	A	71332359	2	1	107	1	0	0	0	0	0	0	0	1	10422	1140	40	1		1	NEUROG3	10	71332359	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	33824212	71332359	64202388	68	30636											
CYP2C9	1559	broad.mit.edu	37	chr10	96748637	96748637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggagaagccctggccgGcatggagctgtttttattcc	14	9	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:96748637G>A	ENST00000260682.6	+	9	1337	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	442					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GCCCTGGCCGGCATGGAGCTG	0.453													False	0	False	10:96748637	0	A	96748637	G	A	96748637	3	1	107	1	0	0	0	0	1	0	0	0	4193	1203	42	2	1359	2	CYP2C9	10	96748637	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	25416278	96748637	38786110	69	30637											
HPS1	3257	broad.mit.edu	37	chr10	100185374	100185374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccacgaggggctgggagCgcagggaggccccgggctcc	18	15	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:100185374C>T	ENST00000325103.6	-	13	1492	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	HPS1_ENST00000361490.4_Missense_Mutation_p.R420H|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	420					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GGGCTGGGAGCGCAGGGAGGC	0.637									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	10:100185374	0	T	100185374	C	T	100185374	3	4	107	1	0	0	0	0	1	0	0	0	7386	768	27	1	875	1	HPS1	10	100185374	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3436737	100185374	35349373	70	30638											
PPRC1	23082	broad.mit.edu	37	chr10	103907023	103907023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagggccgccgaggccGcaacagccgttctgtcagct	14	15	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:103907023G>A	ENST00000278070.2	+	9	4313	c.4274G>A	c.(4273-4275)cGc>cAc	p.R1425H	PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1425	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCCGAGGCCGCAACAGCCGT	0.627													False	0	False	10:103907023	0	A	103907023	G	A	103907023	3	1	107	1	0	0	0	0	1	0	0	0	12484	1087	38	1	4308	1	PPRC1	10	103907023	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	3721649	103907023	31627724	71	30639											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105363099	105363099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctctgcatatggccGgaagccctcattctcataga	10	12	3	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:105363099G>A	ENST00000369774.4	-	15	2152	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R493W|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R598W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R461W			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	626					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCATATGGCCGGAAGCCCTCA	0.622													False	0	False	10:105363099	0	A	105363099	G	A	105363099	3	1	107	1	0	0	0	0	1	0	0	0	14337	1115	39	1	1529	1	SH3PXD2A	10	105363099	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1456076	105363099	30171648	72	30640											
SFXN4	119559	broad.mit.edu	37	chr10	120905815	120905815	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccattgccaggacagtacaaGacagtttcaaaatccacaat	6	11	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:120905815G>C	ENST00000355697.2	-	13	888	c.869C>G	c.(868-870)tCt>tGt	p.S290C	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.S281C	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	290					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GACAGTACAAGACAGTTTCAA	0.433													False	0	False	10:120905815	0	C	120905815	G	C	120905815	3	2	107	1	0	0	0	0	1	0	0	0	14278	942	33	5	152	5	SFXN4	10	120905815	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	15542716	120905815	14628932	73	30641											
PTPRE	5791	broad.mit.edu	37	chr10	129871718	129871718	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctatcgtgatgctgacggagGtgcaggagagagagcaggtg	18	6	0	4			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:129871718G>T	ENST00000254667.3	+	17	1861	c.1582G>T	c.(1582-1584)Gtg>Ttg	p.V528L	PTPRE_ENST00000306042.5_Missense_Mutation_p.V470L|PTPRE_ENST00000419012.2_Missense_Mutation_p.V528L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	528	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGACGGAGGTGCAGGAGAG	0.597													False	0	False	10:129871718	0	T	129871718	G	T	129871718	3	4	107	1	0	0	0	0	1	0	0	0	12879	1261	44	3	1679	3	PTPRE	10	129871718	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8965903	129871718	5663029	74	30642											
PWWP2B	170394	broad.mit.edu	37	chr10	134218205	134218205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcaacgacagccatggCcgggctcccgaggaggggga	16	13	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:134218205C>T	ENST00000305233.5	+	2	260	c.201C>T	c.(199-201)ggC>ggT	p.G67G	PWWP2B_ENST00000368609.4_Silent_p.G67G	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	67										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		ACAGCCATGGCCGGGCTCCCG	0.697													False	0	False	10:134218205	0	T	134218205	C	T	134218205	2	4	107	1	0	0	0	0	0	0	0	1	12925	726	26	2		2	PWWP2B	10	134218205	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	4346487	134218205	1316542	75	30643											
INS-IGF2	0	broad.mit.edu	37	chr11	2182109	2182109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccaccaggtgtgagccGcacaggtgttggttcacaaa	12	11	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:2182109G>A	ENST00000397270.1	-	2	151	c.93C>T	c.(91-93)tgC>tgT	p.C31C	INS_ENST00000512523.1_Silent_p.C31C|INS_ENST00000381330.4_Silent_p.C31C|INS_ENST00000250971.3_Silent_p.C31C|INS_ENST00000397262.1_Silent_p.C31C	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN		31					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GGTGTGAGCCGCACAGGTGTT	0.652													False	0	False	11:2182109	0	A	2182109	G	A	2182109	2	1	107	1	0	0	0	0	0	0	0	1	7813	1079	38	1		1	INS-IGF2	11	2182109	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		2182109	132824407	76	30644											
OR51A4	401666	broad.mit.edu	37	chr11	4967530	4967530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaatgaggggagagacatgCcgggcaaagcggtggacaac	16	7	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:4967530C>T	ENST00000380373.2	-	1	826	c.801G>A	c.(799-801)cgG>cgA	p.R267R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	267			R -> G (in dbSNP:rs2595988).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGAGACATGCCGGGCAAAGC	0.448													False	0	False	11:4967530	0	T	4967530	C	T	4967530	2	4	107	1	0	0	0	0	0	0	0	1	11155	726	26	2		2	OR51A4	11	4967530	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	2785421	4967530	130038986	77	30645											
HPX	3263	broad.mit.edu	37	chr11	6461433	6461433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgaccttgacggaatgCagcatccacagggctgggga	15	9	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:6461433C>T	ENST00000265983.3	-	4	398	c.298G>A	c.(298-300)Gca>Aca	p.A100T	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	100	Hemopexin-like 2.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGACGGAATGCAGCATCCACA	0.517													False	0	False	11:6461433	0	T	6461433	C	T	6461433	3	4	107	1	0	0	0	0	1	0	0	0	7393	710	25	2	1118	2	HPX	11	6461433	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	1493903	6461433	128545083	78	30646											
OR2AG2	338755	broad.mit.edu	37	chr11	6789727	6789727	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggtatgtcctatagcaatCagggatgccaggatccagga	12	8	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:6789727C>A	ENST00000338569.2	-	1	559	c.462G>T	c.(460-462)ctG>ctT	p.L154L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTATAGCAATCAGGGATGCCA	0.507													False	0	False	11:6789727	0	A	6789727	C	A	6789727	2	1	107	1	0	0	0	0	0	0	0	1	11053	813	29	3		3	OR2AG2	11	6789727	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	328294	6789727	128216789	79	30647											
NELL1	4745	broad.mit.edu	37	chr11	20968881	20968881	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctaatatttggcttccaGggtggagttttagtaaaaat	9	6	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:20968881G>T	ENST00000298925.5	+	12	1308		c.e12-1		NELL1_ENST00000357134.5_Splice_Site|NELL1_ENST00000325319.5_Splice_Site|NELL1_ENST00000532434.1_Splice_Site			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)						cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTGGCTTCCAGGGTGGAGTTT	0.368													False	0	True	11:20968881	0	T	20968881	G	T	20968881	5	4	107	1	0	0	0	0	0	0	1	0	10401	1014	35	3	1113	3	NELL1	11	20968881	Splice_Site	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	14179154	20968881	114037635	80	30648											
AHNAK	79026	broad.mit.edu	37	chr11	62297984	62297984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccttcagctttccttccGggccctcaaggctcacatct	8	17	4	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:62297984G>A	ENST00000378024.4	-	5	4179	c.3905C>T	c.(3904-3906)cCg>cTg	p.P1302L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1302					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTCCTTCCGGGCCCTCAAG	0.552													False	0	True	11:62297984	0	A	62297984	G	A	62297984	3	1	107	1	0	0	0	0	1	0	0	0	414	1116	39	1	13887	1	AHNAK	11	62297984	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	41329103	62297984	72708532	81	30649											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810433	65810433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcccgcgccagcgccgCggggatggcggccaggcgcg	19	18	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:65810433C>T	ENST00000312006.4	-	3	1122	c.841G>A	c.(841-843)Gcg>Acg	p.A281T	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A281T	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	281					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						gccagcgccgcggggATGGCG	0.756													False	0	True	11:65810433	0	T	65810433	C	T	65810433	3	4	107	1	0	0	0	0	1	0	0	0	6242	768	27	1	458	1	GAL3ST3	11	65810433	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3512449	65810433	69196083	82	30650											
KIAA1377	57562	broad.mit.edu	37	chr11	101868356	101868356	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agagaagatagaaccagcagCtgcagagacaagagataatt	11	6	0	5			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:101868356C>G	ENST00000263468.8	+	11	3606	c.3336C>G	c.(3334-3336)agC>agG	p.S1112R	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S913R	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1112							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAACCAGCAGCTGCAGAGACA	0.433													False	0	False	11:101868356	0	G	101868356	C	G	101868356	3	3	107	1	0	0	0	0	1	0	0	0	8277	796	28	5	3378	5	KIAA1377	11	101868356	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	36057923	101868356	33138160	83	30651											
C2CD2L	9854	broad.mit.edu	37	chr11	118984835	118984835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctatccctgggctatgcgGcatccctggaagcctcagtg	12	14	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:118984835G>A	ENST00000336702.3	+	13	2031	c.1672G>A	c.(1672-1674)Gca>Aca	p.A558T	C2CD2L_ENST00000528586.1_Missense_Mutation_p.A305T	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	557						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GGGCTATGCGGCATCCCTGGA	0.617													False	0	False	11:118984835	0	A	118984835	G	A	118984835	3	1	107	1	0	0	0	0	1	0	0	0	2169	1203	42	2	1722	2	C2CD2L	11	118984835	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	17116479	118984835	16021681	84	30652											
OR10G9	219870	broad.mit.edu	37	chr11	123893818	123893818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatcttcctggtggtttaCgtgctcactgtgctggggaa	14	8	2	0	rs145074505		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:123893818C>T	ENST00000375024.1	+	1	99	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGTGGTTTACGTGCTCACTG	0.572													False	0	False	11:123893818	0	T	123893818	C	T	123893818	2	4	107	1	0	0	0	0	0	0	0	1	10972	547	19	1		1	OR10G9	11	123893818	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	4908983	123893818	11112698	85	30653											
CACNA1C	775	broad.mit.edu	37	chr12	2797686	2797686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattccctaggccttttgCcaccccaccagccacacctg	5	20	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:2797686C>T	ENST00000399655.1	+	46	6123	c.5858C>T	c.(5857-5859)gCc>gTc	p.A1953V	CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1972V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A2001V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1961V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1988V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1972V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1994V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1973V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2024V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1981V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1961V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2024V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1972V|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1978V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1970V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1988V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1959V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2036					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGGCCTTTTGCCACCCCACCA	0.642													False	0	True	12:2797686	0	T	2797686	C	T	2797686	3	4	107	1	0	0	0	0	1	0	0	0	2560	739	26	2	6749	2	CACNA1C	12	2797686	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		2797686	131054209	86	30654											
KCNA6	3742	broad.mit.edu	37	chr12	4919470	4919470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgagtacttcttcgaccGcaaccggcccagcttcgacg	10	15	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:4919470G>A	ENST00000433855.1	+	1	1129	c.263G>A	c.(262-264)cGc>cAc	p.R88H	KCNA6_ENST00000280684.3_Missense_Mutation_p.R88H	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	88						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TTCTTCGACCGCAACCGGCCC	0.637										HNSCC(72;0.22)			False	0	False	12:4919470	0	A	4919470	G	A	4919470	3	1	107	1	0	0	0	0	1	0	0	0	8057	1087	38	1	265	1	KCNA6	12	4919470	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2121784	4919470	128932425	87	30655											
GRIN2B	2904	broad.mit.edu	37	chr12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttagccatgttcttggccGtgcgcagcaggcgcaggatg	16	10	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTCTTGGCCGTGCGCAGCAG	0.582													False	0	False	12:13717461	0	A	13717461	G	A	13717461	3	1	107	1	0	0	0	0	1	0	0	0	6827	1145	40	1	1747	1	GRIN2B	12	13717461	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8797991	13717461	120134434	88	30656											
GYS2	2998	broad.mit.edu	37	chr12	21721886	21721886	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcaatgaacggaagctcGctccatgcagtaccggtggt	13	11	0	1	rs121918419		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:21721886G>A	ENST00000261195.2	-	5	990	c.736C>T	c.(736-738)Cga>Tga	p.R246*		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	246					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.R246*(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACGGAAGCTCGCTCCATGCAG	0.423													False	0	True	12:21721886	0	A	21721886	G	A	21721886	4	1	107	1	0	0	0	0	0	1	0	0	6960	1095	38	1	1423	1	GYS2	12	21721886	Nonsense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8004425	21721886	112130009	89	30657											
GYS2	2998	broad.mit.edu	37	chr12	21733405	21733405	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatagttctctccccaTtcatctgctgttgttttggc	7	10	3	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:21733405T>C	ENST00000261195.2	-	2	428	c.174A>G	c.(172-174)gaA>gaG	p.E58E		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	58					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCTCCCCATTCATCTGCTG	0.378													False	0	False	12:21733405	0	C	21733405	T	C	21733405	2	2	107	1	0	0	0	0	0	0	0	1	6960	1490	52	4		4	GYS2	12	21733405	Silent	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	11519	21733405	112118490	90	30658											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	107	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3664879	25398284	108453611	91	30659											
FMNL3	91010	broad.mit.edu	37	chr12	50050953	50050953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagttcttcagggccctgCgcccagggagagtgctatac	15	11	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:50050953C>T	ENST00000335154.5	-	7	859	c.626G>A	c.(625-627)cGc>cAc	p.R209H	FMNL3_ENST00000352151.5_Missense_Mutation_p.R158H|FMNL3_ENST00000550488.1_Missense_Mutation_p.R209H|FMNL3_ENST00000293590.5_Missense_Mutation_p.R209H	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	209	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAGGGCCCTGCGCCCAGGGAG	0.582													False	0	False	12:50050953	0	T	50050953	C	T	50050953	3	4	107	1	0	0	0	0	1	0	0	0	5993	768	27	1	2537	1	FMNL3	12	50050953	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	24652669	50050953	83800942	92	30660											
TARBP2	6895	broad.mit.edu	37	chr12	53898955	53898955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaattggcaaagcggaatgCggcggccaaaatgctgcttc	12	9	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:53898955C>T	ENST00000266987.2	+	7	1133	c.650C>T	c.(649-651)gCg>gTg	p.A217V	TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V|TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V|TARBP2_ENST00000552857.1_Intron	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	217	DRBM 2.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						AAGCGGAATGCGGCGGCCAAA	0.572													False	0	False	12:53898955	0	T	53898955	C	T	53898955	3	4	107	1	0	0	0	0	1	0	0	0	15638	768	27	1	676	1	TARBP2	12	53898955	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3848002	53898955	79952940	93	30661											
NACA	4666	broad.mit.edu	37	chr12	57108169	57108169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtgccttcttttcactccGactctgttttgctttactga	6	13	3	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:57108169G>A	ENST00000454682.1	-	5	6081	c.5800C>T	c.(5800-5802)Cgg>Tgg	p.R1934W	NACA_ENST00000393891.4_Missense_Mutation_p.R71W|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000550952.1_Missense_Mutation_p.R781W|NACA_ENST00000356769.3_Missense_Mutation_p.R71W|NACA_ENST00000546392.1_Missense_Mutation_p.R71W|NACA_ENST00000552540.1_Missense_Mutation_p.R71W|NACA_ENST00000551793.1_5'UTR	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	71					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTCACTCCGACTCTGTTTT	0.388			T	BCL6	NHL								False	0	False	12:57108169	0	A	57108169	G	A	57108169	3	1	107	1	0	0	0	0	1	0	0	0	10200	1057	37	1	456	1	NACA	12	57108169	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	3209214	57108169	76743726	94	30662											
CNOT2	4848	broad.mit.edu	37	chr12	70732321	70732321	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataataaccagcagaaaaaAgggatccaggtgttacctga	9	7	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:70732321A>G	ENST00000229195.3	+	10	1578	c.999A>G	c.(997-999)aaA>aaG	p.K333K	CNOT2_ENST00000418359.3_Silent_p.K333K|CNOT2_ENST00000551483.1_5'UTR	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	333					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AGCAGAAAAAAGGGATCCAGG	0.323													False	0	True	12:70732321	0	G	70732321	A	G	70732321	2	3	107	1	0	0	0	0	0	0	0	1	3642	69	3	4		4	CNOT2	12	70732321	Silent	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	13624152	70732321	63119574	95	30663											
NOS1	4842	broad.mit.edu	37	chr12	117728173	117728173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcttgaccttgaggaagCgtggacacttggaggggctg	16	7	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:117728173C>T	ENST00000317775.6	-	4	1596	c.911G>A	c.(910-912)cGc>cAc	p.R304H	NOS1_ENST00000338101.4_Missense_Mutation_p.R304H|NOS1_ENST00000344089.3_Missense_Mutation_p.A323T	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	304					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTGAGGAAGCGTGGACACTT	0.547													False	0	False	12:117728173	0	T	117728173	C	T	117728173	3	4	107	1	0	0	0	0	1	0	0	0	10609	768	27	1	3497	1	NOS1	12	117728173	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	46995852	117728173	16123722	96	30664											
CLIP1	6249	broad.mit.edu	37	chr12	122825973	122825973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaagcttttccgtggcgGtatacagagcctttatctcc	10	10	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:122825973G>A	ENST00000358808.2	-	10	1899	c.1745C>T	c.(1744-1746)aCc>aTc	p.T582I	CLIP1_ENST00000540338.1_Missense_Mutation_p.T593I|CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I|CLIP1_ENST00000302528.7_Missense_Mutation_p.T582I|CLIP1_ENST00000537178.1_Missense_Mutation_p.T547I|CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	593					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCCGTGGCGGTATACAGAGC	0.458													False	0	False	12:122825973	0	A	122825973	G	A	122825973	3	1	107	1	0	0	0	0	1	0	0	0	3555	1261	44	2	2602	2	CLIP1	12	122825973	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	5097800	122825973	11025922	97	30665											
TMEM132D	121256	broad.mit.edu	37	chr12	130184773	130184773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggtccccctgcagccGgcagctgccccgcacctctc	9	23	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:130184773G>A	ENST00000422113.2	-	2	876	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	184						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCCTGCAGCCGGCAGCTGCCC	0.692													False	0	False	12:130184773	0	A	130184773	G	A	130184773	3	1	107	1	0	0	0	0	1	0	0	0	16129	1115	39	1	2781	1	TMEM132D	12	130184773	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	7358800	130184773	3667122	98	30666											
PDS5B	23047	broad.mit.edu	37	chr13	33258137	33258137	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcacttacttaattttgtgAgagagagaacattagacaaa	7	5	1	4			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:33258137A>T	ENST00000315596.10	+	11	1366	c.1180A>T	c.(1180-1182)Aga>Tga	p.R394*		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	394				R -> G (in Ref. 2; AAD22134).	cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.R394*(2)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TAATTTTGTGAGAGAGAGAAC	0.274													False	0	True	13:33258137	0	T	33258137	A	T	33258137	4	4	107	1	0	0	0	0	0	1	0	0	11760	296	11	5	1218	5	PDS5B	13	33258137	Nonsense_Mutation	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08		33258137	81911741	99	30667											
ZIC5	85416	broad.mit.edu	37	chr13	100617645	100617645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaattctaatgtatcgtccGcacaacttcagggttcccgt	7	11	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:100617645G>A	ENST00000267294.4	-	2	2211	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	660					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTATCGTCCGCACAACTTCA	0.483													False	0	False	13:100617645	0	A	100617645	G	A	100617645	3	1	107	1	0	0	0	0	1	0	0	0	17765	1086	38	1	17	1	ZIC5	13	100617645	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	67359508	100617645	14552233	100	30668											
RPL10L	140801	broad.mit.edu	37	chr14	47120810	47120810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccaccgagtgggaactcatCcacttttgccttctttctac	7	14	3	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:47120810C>A	ENST00000298283.3	-	1	218	c.130G>T	c.(130-132)Gat>Tat	p.D44Y		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	44					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GGGAACTCATCCACTTTTGCC	0.502													False	0	False	14:47120810	0	A	47120810	C	A	47120810	3	1	107	1	0	0	0	0	1	0	0	0	13635	855	30	3	518	3	RPL10L	14	47120810	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		47120810	60228730	101	30669											
SOS2	6655	broad.mit.edu	37	chr14	50626630	50626630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaaacagaaaaatatgCcgttcatgtttggcaccgat	7	10	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:50626630C>T	ENST00000216373.5	-	10	1645	c.1371G>A	c.(1369-1371)cgG>cgA	p.R457R	SOS2_ENST00000543680.1_Silent_p.R424R|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	457	PH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GAAAAATATGCCGTTCATGTT	0.393													False	0	False	14:50626630	0	T	50626630	C	T	50626630	2	4	107	1	0	0	0	0	0	0	0	1	15017	726	26	2		2	SOS2	14	50626630	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3505820	50626630	56722910	102	30670											
MAX	4149	broad.mit.edu	37	chr14	65560458	65560458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgatgggactgagtcccGcaaactgtgaaagctgtctt	13	8	1	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:65560458G>A	ENST00000284165.6	-	3	287	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	MAX_ENST00000246163.2_Missense_Mutation_p.R47W|RP11-840I19.3_ENST00000553633.1_RNA|MAX_ENST00000556443.1_Missense_Mutation_p.R38W|MAX_ENST00000358402.4_Missense_Mutation_p.R38W|RP11-840I19.3_ENST00000555261.1_RNA|MAX_ENST00000556979.1_Missense_Mutation_p.R47W|MAX_ENST00000358664.4_Missense_Mutation_p.R47W|MAX_ENST00000555419.1_Intron|MAX_ENST00000341653.2_Missense_Mutation_p.R47W|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.R38W|RP11-840I19.3_ENST00000555898.1_RNA|MAX_ENST00000557746.1_Missense_Mutation_p.R38W	NM_145113.2	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	47	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		ACTGAGTCCCGCAAACTGTGA	0.483													False	0	True	14:65560458	0	A	65560458	G	A	65560458	3	1	107	1	0	0	0	0	1	0	0	0	9406	1086	38	1	695	1	MAX	14	65560458	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	14933828	65560458	41789082	103	30671											
DIO3	1735	broad.mit.edu	37	chr14	102028612	102028612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggcgcctacttcgagcGtctctatgtcatccagagtg	10	12	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:102028612G>A	ENST00000359323.3	+	1	925	c.701G>A	c.(700-702)cGt>cAt	p.R234H	DIO3_ENST00000510508.4_Missense_Mutation_p.R260H	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	234					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TACTTCGAGCGTCTCTATGTC	0.617													False	0	False	14:102028612	0	A	102028612	G	A	102028612	3	1	107	1	0	0	0	0	1	0	0	0	4556	1145	40	1	781	1	DIO3	14	102028612	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	36468154	102028612	5320928	104	30672											
AHNAK2	113146	broad.mit.edu	37	chr14	105416307	105416307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaacgacggcatcttgaaCttgggcattttgaacttgct	10	10	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:105416307C>T	ENST00000333244.5	-	7	5600	c.5481G>A	c.(5479-5481)aaG>aaA	p.K1827K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1827						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATCTTGAACTTGGGCATTT	0.612													False	0	False	14:105416307	0	T	105416307	C	T	105416307	2	4	107	1	0	0	0	0	0	0	0	1	415	564	20	2		2	AHNAK2	14	105416307	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3387695	105416307	1933233	105	30673											
TRPM1	4308	broad.mit.edu	37	chr15	31319127	31319127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcacatactcaatccacGatcccgttcctcttggtccc	5	18	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:31319127G>A	ENST00000542188.1	-	25	3851	c.3538C>T	c.(3538-3540)Cgt>Tgt	p.R1180C	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1141C|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1163C|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1141					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCAATCCACGATCCCGTTCC	0.463													False	0	False	15:31319127	0	A	31319127	G	A	31319127	3	1	107	1	0	0	0	0	1	0	0	0	16668	1058	37	1	1402	1	TRPM1	15	31319127	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		31319127	71212265	106	30674											
RYR3	6263	broad.mit.edu	37	chr15	33822869	33822869	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactctttcagcggaatggTaagcagctctggtgcccact	11	12	3	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:33822869T>C	ENST00000389232.4	+	4	424		c.e4+2		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCGGAATGGTAAGCAGCTCT	0.498													False	0	False	15:33822869	0	C	33822869	T	C	33822869	5	2	107	1	0	0	0	0	0	0	1	0	13849	1652	57	4	370	4	RYR3	15	33822869	Splice_Site	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	2503742	33822869	68708523	107	30675											
ISLR2	57611	broad.mit.edu	37	chr15	74426584	74426584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctggatgtggcggagcgcGaggcgcgggtgcagctgact	20	10	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:74426584G>A	ENST00000361742.3	+	4	2258	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	ISLR2_ENST00000565540.1_Missense_Mutation_p.E497K|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.E497K|ISLR2_ENST00000453268.2_Missense_Mutation_p.E497K|ISLR2_ENST00000419208.1_Missense_Mutation_p.E497K|ISLR2_ENST00000445793.1_Missense_Mutation_p.E497K|ISLR2_ENST00000435464.1_Missense_Mutation_p.E497K	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	497					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGCGGAGCGCGAGGCGCGGGT	0.731													False	0	False	15:74426584	0	A	74426584	G	A	74426584	3	1	107	1	0	0	0	0	1	0	0	0	7909	1059	37	1	1491	1	ISLR2	15	74426584	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	40603715	74426584	28104808	108	30676											
LMAN1L	79748	broad.mit.edu	37	chr15	75115914	75115914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttagggatgcagctgtccGcatggctgcagaagcccagg	16	10	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:75115914G>A	ENST00000309664.5	+	12	1353	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.R393H	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	405						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAGCTGTCCGCATGGCTGCA	0.557													False	0	False	15:75115914	0	A	75115914	G	A	75115914	3	1	107	1	0	0	0	0	1	0	0	0	8890	1087	38	1	1260	1	LMAN1L	15	75115914	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	689330	75115914	27415478	109	30677											
ACAN	176	broad.mit.edu	37	chr15	89388927	89388927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccccagtcccctggaacccGaggagcccttcacgtttgcc	9	19	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:89388927G>A	ENST00000439576.2	+	7	1617	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	ACAN_ENST00000558207.1_Missense_Mutation_p.E415K|ACAN_ENST00000352105.7_Missense_Mutation_p.E415K|ACAN_ENST00000561243.1_Missense_Mutation_p.E415K|ACAN_ENST00000559004.1_Missense_Mutation_p.E415K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	415					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTGGAACCCGAGGAGCCCTT	0.612													False	0	True	15:89388927	0	A	89388927	G	A	89388927	3	1	107	1	0	0	0	0	1	0	0	0	117	1059	37	1	1265	1	ACAN	15	89388927	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	14273013	89388927	13142465	110	30678											
ZC3H7A	29066	broad.mit.edu	37	chr16	11859420	11859420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttaatctttccattgccGccaaagaaagcctcccggct	8	13	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:11859420G>A	ENST00000396516.2	-	13	1841	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	ZC3H7A_ENST00000355758.4_Silent_p.G548G			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	548						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TTCCATTGCCGCCAAAGAAAG	0.453													False	0	False	16:11859420	0	A	11859420	G	A	11859420	2	1	107	1	0	0	0	0	0	0	0	1	17655	1074	38	1		1	ZC3H7A	16	11859420	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		11859420	78495333	111	30679											
IRX6	79190	broad.mit.edu	37	chr16	55361532	55361532	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgagtggcgccggtcgcCgaaagaacgcgacccgggag	16	11	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:55361532C>T	ENST00000290552.7	+	4	1780	c.448C>T	c.(448-450)Cga>Tga	p.R150*	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CGCCGGTCGCCGAAAGAACGC	0.577													False	0	False	16:55361532	0	T	55361532	C	T	55361532	4	4	107	1	0	0	0	0	0	1	0	0	7898	644	23	1	462	1	IRX6	16	55361532	Nonsense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	43502112	55361532	34993221	112	30680											
SETD6	79918	broad.mit.edu	37	chr16	58550831	58550831	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaatctagaatactctgCggtgagtggagtttctcttg	11	9	3	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:58550831C>T	ENST00000394266.4	+	6	640	c.584C>T	c.(583-585)gCg>gTg	p.A195V	SETD6_ENST00000310682.2_Splice_Site_p.A240V|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000219315.4_Splice_Site_p.A264V			Q8TBK2	SETD6_HUMAN	SET domain containing 6	264	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GAATACTCTGCGGTGAGTGGA	0.463													False	0	False	16:58550831	0	T	58550831	C	T	58550831	5	4	107	1	0	0	0	0	0	0	1	0	14216	782	27	1	809	1	SETD6	16	58550831	Splice_Site	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3189299	58550831	31803922	113	30681											
GLG1	2734	broad.mit.edu	37	chr16	74527016	74527016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggcaatcagcttttggCgggttgtaagtgcttctcga	13	9	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:74527016C>T	ENST00000422840.2	-	7	1072	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	GLG1_ENST00000205061.5_Missense_Mutation_p.R358H|GLG1_ENST00000447066.2_Missense_Mutation_p.R347H	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	358						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CAGCTTTTGGCGGGTTGTAAG	0.443													False	0	True	16:74527016	0	T	74527016	C	T	74527016	3	4	107	1	0	0	0	0	1	0	0	0	6481	768	27	1	2626	1	GLG1	16	74527016	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	15976185	74527016	15827737	114	30682											
CDH15	1013	broad.mit.edu	37	chr16	89251637	89251637	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgaccccgagacggacaacGcagcgctgcggttctccatc	11	16	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:89251637G>C	ENST00000289746.2	+	5	624	c.559G>C	c.(559-561)Gca>Cca	p.A187P		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	187	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GACGGACAACGCAGCGCTGCG	0.662													False	0	False	16:89251637	0	C	89251637	G	C	89251637	3	2	107	1	0	0	0	0	1	0	0	0	3123	1087	38	5	577	5	CDH15	16	89251637	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	14724621	89251637	1103116	115	30683											
USP6	9098	broad.mit.edu	37	chr17	5072190	5072190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagacccggccctctgccaGcataaaccactcacacccca	6	20	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:5072190G>A	ENST00000574788.1	+	35	5587	c.3357G>A	c.(3355-3357)caG>caA	p.Q1119Q	USP6_ENST00000250066.6_Silent_p.Q1119Q|USP6_ENST00000304328.5_Silent_p.Q802Q|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1119					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTCTGCCAGCATAAACCAC	0.493			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								False	0	False	17:5072190	0	A	5072190	G	A	5072190	2	1	107	1	0	0	0	0	0	0	0	1	17170	962	34	2		2	USP6	17	5072190	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		5072190	76123020	116	30684											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs121912651		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	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)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	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)			False	0	False	17:7577539	0	A	7577539	G	A	7577539	3	1	107	1	0	0	0	0	1	0	0	0	16464	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2505349	7577539	73617671	117	30685											
TTC19	54902	broad.mit.edu	37	chr17	15903527	15903527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggcggacgaggccgagGcagagatcatccagctgctg	17	11	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:15903527G>A	ENST00000261647.5	+	2	749	c.280G>A	c.(280-282)Gca>Aca	p.A94T	TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Missense_Mutation_p.A215T	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	94					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGAGGCCGAGGCAGAGATCAT	0.731													False	0	False	17:15903527	0	A	15903527	G	A	15903527	3	1	107	1	0	0	0	0	1	0	0	0	16770	1203	42	2	649	2	TTC19	17	15903527	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8325988	15903527	65291683	118	30686											
FBXW10	10517	broad.mit.edu	37	chr17	18671872	18671872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtggccatgagggagccgTgaaatgcctgttctttgacc	13	10	1	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:18671872T>C	ENST00000308799.4	+	9	2036	c.1817T>C	c.(1816-1818)gTg>gCg	p.V606A	FBXW10_ENST00000395665.4_Missense_Mutation_p.V577A|FBXW10_ENST00000301938.4_Missense_Mutation_p.V577A|FBXW10_ENST00000395667.1_Missense_Mutation_p.V577A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	577										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GAGGGAGCCGTGAAATGCCTG	0.527													False	0	False	17:18671872	0	C	18671872	T	C	18671872	3	2	107	1	0	0	0	0	1	0	0	0	5803	1696	59	4	1768	4	FBXW10	17	18671872	Missense_Mutation	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	2768345	18671872	62523338	119	30687											
KCNJ12	3768	broad.mit.edu	37	chr17	21319100	21319100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatcggctacgggctgcGctgtgtgacggaggagtgcc	16	12	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:21319100G>A	ENST00000583088.1	+	3	1341	c.446G>A	c.(445-447)cGc>cAc	p.R149H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R149H	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TACGGGCTGCGCTGTGTGACG	0.642										Prostate(3;0.18)			False	0	False	17:21319100	0	A	21319100	G	A	21319100	3	1	107	1	0	0	0	0	1	0	0	0	8096	1087	38	1	448	1	KCNJ12	17	21319100	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2647228	21319100	59876110	120	30688											
GIT1	28964	broad.mit.edu	37	chr17	27908966	27908966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatagtcaatgggtgtgCggccattaacatcaggggag	15	7	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:27908966C>T	ENST00000225394.3	-	5	850	c.602G>A	c.(601-603)cGc>cAc	p.R201H	GIT1_ENST00000394869.3_Missense_Mutation_p.R201H|GIT1_ENST00000581348.1_Missense_Mutation_p.R201H|GIT1_ENST00000579937.1_Missense_Mutation_p.R201H|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	201					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		AATGGGTGTGCGGCCATTAAC	0.627													False	0	False	17:27908966	0	T	27908966	C	T	27908966	3	4	107	1	0	0	0	0	1	0	0	0	6441	768	27	1	1778	1	GIT1	17	27908966	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	6589866	27908966	53286244	121	30689											
KRT17	3872	broad.mit.edu	37	chr17	39780468	39780468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcacgcaccttgtccagGtaggaggccaggcggtcatt	15	11	1	0	rs57674130		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:39780468G>A	ENST00000311208.8	-	1	361	c.294C>T	c.(292-294)taC>taT	p.Y98Y	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	98	Coil 1A.|Rod.		Missing (in PC2).|Y -> D (in PC2).	Missing (in Ref. 5; AAH72018).	epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CCTTGTCCAGGTAGGAGGCCA	0.637													False	0	False	17:39780468	0	A	39780468	G	A	39780468	2	1	107	1	0	0	0	0	0	0	0	1	8504	1256	44	2		2	KRT17	17	39780468	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	11871502	39780468	41414742	122	30690											
CACNA1G	8913	broad.mit.edu	37	chr17	48649968	48649968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagagaacgaggatgagaGccccttcatctgctcccagc	11	13	2	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:48649968G>A	ENST00000352832.5	+	6	1172	c.800G>A	c.(799-801)aGc>aAc	p.S267N	CACNA1G_ENST00000360761.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S267N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S267N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S267N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	267					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGGATGAGAGCCCCTTCATC	0.667													False	0	True	17:48649968	0	A	48649968	G	A	48649968	3	1	107	1	0	0	0	0	1	0	0	0	2564	971	34	2	822	2	CACNA1G	17	48649968	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8869500	48649968	32545242	123	30691											
ANKRD30B	374860	broad.mit.edu	37	chr18	14787073	14787073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagaatccaaacaaaaggacGatgaagaaaattcttgggat	9	6	1	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:14787073G>T	ENST00000358984.4	+	15	1888	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	570										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACAAAAGGACGATGAAGAAAA	0.289													False	0	False	18:14787073	0	T	14787073	G	T	14787073	3	4	107	1	0	0	0	0	1	0	0	0	659	1058	37	3	1766	3	ANKRD30B	18	14787073	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		14787073	63290175	124	30692											
DSC1	1823	broad.mit.edu	37	chr18	28723623	28723623	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagagaggtatactcacagaAgtttctgtgaaagatggtgg	13	4	2	4			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:28723623A>T	ENST00000257197.3	-	8	1332	c.1071T>A	c.(1069-1071)acT>acA	p.T357T	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.T357T	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	357	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TACTCACAGAAGTTTCTGTGA	0.358													False	0	False	18:28723623	0	T	28723623	A	T	28723623	2	4	107	1	0	0	0	0	0	0	0	1	4795	59	3	5		5	DSC1	18	28723623	Silent	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	13936550	28723623	49353625	125	30693											
DSG4	147409	broad.mit.edu	37	chr18	28991295	28991295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgttggcctcatggccGcaggggccgcaggagcctca	15	15	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:28991295G>A	ENST00000359747.4	+	14	2325	c.2296G>A	c.(2296-2298)Gca>Aca	p.A766T	DSG4_ENST00000308128.4_Missense_Mutation_p.A747T|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	747					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.A747T(1)|p.A766T(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTCATggccgcaggggccgc	0.612													False	0	False	18:28991295	0	A	28991295	G	A	28991295	3	1	107	1	0	0	0	0	1	0	0	0	4809	1087	38	1	2418	1	DSG4	18	28991295	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	267672	28991295	49085953	126	30694											
NOL4	8715	broad.mit.edu	37	chr18	31685089	31685089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattagaaatcgtgtcacCgcttctcttggtaggaaggc	10	10	3	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:31685089C>T	ENST00000261592.5	-	3	747	c.450G>A	c.(448-450)gcG>gcA	p.A150A	NOL4_ENST00000538587.1_Silent_p.A76A|NOL4_ENST00000589544.1_Silent_p.A150A|NOL4_ENST00000269185.4_Silent_p.A36A|NOL4_ENST00000535475.1_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	150						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATCGTGTCACCGCTTCTCTTG	0.393													False	0	False	18:31685089	0	T	31685089	C	T	31685089	2	4	107	1	0	0	0	0	0	0	0	1	10592	639	23	1		1	NOL4	18	31685089	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	2693794	31685089	46392159	127	30695											
ZNF24	7572	broad.mit.edu	37	chr18	32920384	32920384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcctgagccacagacgGcaaagttctcggagctggct	13	12	2	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:32920384G>A	ENST00000589881.1	-	1	234	c.231C>T	c.(229-231)tgC>tgT	p.C77C	ZNF24_ENST00000261332.6_Silent_p.C77C|ZNF24_ENST00000399061.3_Silent_p.C77C			P17028	ZNF24_HUMAN	zinc finger protein 24	77	SCAN box.				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GCCACAGACGGCAAAGTTCTC	0.537													False	0	False	18:32920384	0	A	32920384	G	A	32920384	2	1	107	1	0	0	0	0	0	0	0	1	17875	1195	42	2		2	ZNF24	18	32920384	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1235295	32920384	45156864	128	30696											
GZMM	3004	broad.mit.edu	37	chr19	547338	547338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatcccccactcgcgcccGtacatggcctcactgcagag	10	17	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:547338G>A	ENST00000264553.3	+	2	152	c.114G>A	c.(112-114)ccG>ccA	p.P38P		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	38	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCGCGCCCGTACATGGCCT	0.662													False	0	True	19:547338	0	A	547338	G	A	547338	2	1	107	1	0	0	0	0	0	0	0	1	6966	1132	40	1		1	GZMM	19	547338	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		547338	58581645	129	30697											
SBNO2	22904	broad.mit.edu	37	chr19	1119153	1119153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggccacgatctccatggCgccaacgcccctgcggatgg	12	16	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:1119153C>T	ENST00000361757.3	-	14	1621	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	SBNO2_ENST00000438103.2_Missense_Mutation_p.A405T|SBNO2_ENST00000587024.1_Missense_Mutation_p.A462T	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	462					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTCCATGGCGCCAACGCCC	0.667													False	0	False	19:1119153	0	T	1119153	C	T	1119153	3	4	107	1	0	0	0	0	1	0	0	0	13943	768	27	1	2792	1	SBNO2	19	1119153	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	571815	1119153	58009830	130	30698											
STK11	6794	broad.mit.edu	37	chr19	1207204	1207204	+	Splice_Site	DEL	T	T	-													gggaggccaacgtgaagaagTaagtatggcttgctggggtc					rs112235354		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:1207204delT	ENST00000326873.7	+	1	1463		c.e1+2		STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGAAGAAGTAAGTATGGCT	0.597		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			False	1	True	19:1207204	0	-	1207204	T	-	1207204	8	5	107	1	0	1	0	1	0	0	1	0	15369	1652	57	0	294	0	STK11	19	1207204	Splice_Site	DEL	T	TCGA-IB-A6UG-01A-32D-A33T-08	88051	1207204	57921779	131	30699											
PIAS4	51588	broad.mit.edu	37	chr19	4033577	4033577	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaccagctcatcatcgacGggtgagcccggggccccggg	15	15	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:4033577G>A	ENST00000262971.2	+	9	1256	c.1141G>A	c.(1141-1143)Ggg>Agg	p.G381R		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	381					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	p.G381R(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATCGACGGGTGAGCCCG	0.672													False	0	True	19:4033577	0	A	4033577	G	A	4033577	5	1	107	1	0	0	0	0	0	0	1	0	11947	1130	39	1	1175	1	PIAS4	19	4033577	Splice_Site	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2826373	4033577	55095406	132	30700											
RAVER1	125950	broad.mit.edu	37	chr19	10428271	10428271	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtttctggccgcccagTggggtctggagacagagggc	17	11	2	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:10428271T>A	ENST00000293677.6	-	13	2211	c.2130A>T	c.(2128-2130)ccA>ccT	p.P710P	CTD-2369P2.12_ENST00000586529.1_Silent_p.P111P	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	537						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GGCCGCCCAGTGGGGTCTGGA	0.736													False	0	True	19:10428271	0	A	10428271	T	A	10428271	2	1	107	1	0	0	0	0	0	0	0	1	13173	1683	59	5		5	RAVER1	19	10428271	Silent	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	6394694	10428271	48700712	133	30701											
BRD4	23476	broad.mit.edu	37	chr19	15355293	15355349	+	In_Frame_Del	DEL	GGCGGCTGCTGTTGCTGCTGCGGAGGTGGAGGCGGTGGGGGCTGCTGGGGAGGCGGG	GGCGGCTGCTGTTGCTGCTGCGGAGGTGGAGGCGGTGGGGGCTGCTGGGGAGGCGGG	-													agggtgggggaggcgggggtGgcggctgctgttgctgctgc							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	GGCGGCTGCTGTTGCTGCTGCGGAGGTGGAGGCGGTGGGGGCTGCTGGGGAGGCGGG	GGCGGCTGCTGTTGCTGCTGCGGAGGTGGAGGCGGTGGGGGCTGCTGGGGAGGCGGG	-	-	GGCGGCTGCTGTTGCTGCTGCGGAGGTGGAGGCGGTGGGGGCTGCTGGGGAGGCGGG	GGCGGCTGCTGTTGCTGCTGCGGAGGTGGAGGCGGTGGGGGCTGCTGGGGAGGCGGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:15355293_15355349delGGCGGCTGCTGTTGCTGCTGCGGAGGTGGAGGCGGTGGGGGCTGCTGGGGAGGCGGG	ENST00000263377.2	-	13	2495_2551	c.2274_2330delCCCGCCTCCCCAGCAGCCCCCACCGCCTCCACCTCCGCAGCAGCAACAGCAGCCGCC	c.(2272-2331)cccccgcctccccagcagcccccaccgcctccacctccgcagcagcaacagcagccgcca>cca	p.758_777PPPPQQPPPPPPPQQQQQPP>P		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	758	Poly-Pro.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			aggcgggggtggcggctgctgttgctgctgcggaggtggaggcggtgggggctgctggggaggcgggggcggctgct	0.696			T	C15orf55	lethal midline carcinoma of young people								False	1	False	19:15355293	0	-	15355349	GGCGGCTGCTGTTGCTGCTGCGGAGGTGGAGGCGGTGGGGGCTGCTGGGGAGGCGGG	-	15355293	7	5	107	1	0	1	0	1	0	0	0	0	1511	1348	47	0	1790	0	BRD4	19	15355293	In_Frame_Del	DEL	GGCGGCTGCTGTTGCTGCTGCGGAGGTGGAGGCGGTGGGGGCTGCTGGGGAGGCGGG	TCGA-IB-A6UG-01A-32D-A33T-08	4927022	15355293	43773690	134	30702											
TSHZ3	57616	broad.mit.edu	37	chr19	31769759	31769759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcagggatgattttggCggcgacaggagtgacgggtt	19	5	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:31769759C>T	ENST00000240587.4	-	2	1267	c.940G>A	c.(940-942)Gcc>Acc	p.A314T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	314					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A314T(1)|p.A131T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGATTTTGGCGGCGACAGGA	0.537													False	0	False	19:31769759	0	T	31769759	C	T	31769759	3	4	107	1	0	0	0	0	1	0	0	0	16708	768	27	1	2309	1	TSHZ3	19	31769759	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	16414466	31769759	27359224	135	30703											
CYP2F1	1572	broad.mit.edu	37	chr19	41633864	41633864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctctttctgtacctcacCgccatcctgcagagcttttc	7	15	3	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:41633864C>T	ENST00000331105.2	+	10	1425	c.1353C>T	c.(1351-1353)acC>acT	p.T451T		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	451					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGTACCTCACCGCCATCCTGC	0.647													False	0	False	19:41633864	0	T	41633864	C	T	41633864	2	4	107	1	0	0	0	0	0	0	0	1	4196	639	23	1		1	CYP2F1	19	41633864	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	9864105	41633864	17495119	136	30704											
GRIK5	2901	broad.mit.edu	37	chr19	42546729	42546729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagctcgccaaccatgCccgtccaggagccgttgggc	13	14	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:42546729C>T	ENST00000262895.3	-	11	1447	c.1448G>A	c.(1447-1449)gGc>gAc	p.G483D	GRIK5_ENST00000593562.1_Missense_Mutation_p.G483D|GRIK5_ENST00000301218.4_Missense_Mutation_p.G483D	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	483						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCCAACCATGCCCGTCCAGGA	0.697													False	0	True	19:42546729	0	T	42546729	C	T	42546729	3	4	107	1	0	0	0	0	1	0	0	0	6824	739	26	2	1530	2	GRIK5	19	42546729	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	912865	42546729	16582254	137	30705											
CIC	23152	broad.mit.edu	37	chr19	42795450	42795450	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggtggcacctgccccagcaCcagcccctgggaccaaggca	12	17	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:42795450C>G	ENST00000572681.2	+	11	5325	c.5257C>G	c.(5257-5259)Cca>Gca	p.P1753A	CIC_ENST00000575354.2_Missense_Mutation_p.P844A|CIC_ENST00000160740.3_Missense_Mutation_p.P844A			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCCCCAGCACCAGCCCCTGG	0.672			"Mis, F, S"		oligodendroglioma								False	0	False	19:42795450	0	G	42795450	C	G	42795450	3	3	107	1	0	0	0	0	1	0	0	0	3447	507	18	5	2568	5	CIC	19	42795450	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	248721	42795450	16333533	138	30706											
SLC1A5	6510	broad.mit.edu	37	chr19	47278927	47278927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgtgcttctcgactccGtacggtccacgtaattttgg	10	12	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:47278927G>A	ENST00000542575.2	-	8	2094	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M	SLC1A5_ENST00000594991.1_Missense_Mutation_p.T313M|SLC1A5_ENST00000434726.2_Missense_Mutation_p.T287M|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000412532.2_Missense_Mutation_p.T261M	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	489					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TCTCGACTCCGTACGGTCCAC	0.557													False	0	False	19:47278927	0	A	47278927	G	A	47278927	3	1	107	1	0	0	0	0	1	0	0	0	14516	1145	40	1	163	1	SLC1A5	19	47278927	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	4483477	47278927	11850056	139	30707											
ZNF473	25888	broad.mit.edu	37	chr19	50548807	50548807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaacatcagaaaactcaCgctgcaaaaactacctctga	4	13	3	2	rs148474136	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:50548807C>T	ENST00000595661.1	+	6	1602	c.1107C>T	c.(1105-1107)caC>caT	p.H369H	ZNF473_ENST00000270617.3_Silent_p.H369H|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Silent_p.H369H|ZNF473_ENST00000445728.3_Silent_p.H357H|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	369	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGAAAACTCACGCTGCAAAAA	0.498													False	0	False	19:50548807	0	T	50548807	C	T	50548807	2	4	107	1	0	0	0	0	0	0	0	1	18014	535	19	1		1	ZNF473	19	50548807	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3269880	50548807	8580176	140	30708											
KLK15	55554	broad.mit.edu	37	chr19	51330167	51330167	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gctcccagcggtcccaggctCgttgtgggacaccaggcccc	13	17	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:51330167C>G	ENST00000326856.4	-	4	574	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	KLK15_ENST00000598239.1_Missense_Mutation_p.E150Q|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000596931.1_Missense_Mutation_p.E149Q|KLK15_ENST00000301421.2_Missense_Mutation_p.E150Q	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	150	Peptidase S1.			SHNEPGTAGSPRSQ -> PLSSP (in Ref. 2).	proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GTCCCAGGCTCGTTGTGGGAC	0.687													False	0	False	19:51330167	0	G	51330167	C	G	51330167	3	3	107	1	0	0	0	0	1	0	0	0	8453	893	31	5	334	5	KLK15	19	51330167	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	781360	51330167	7798816	141	30709											
SIGLEC5	8778	broad.mit.edu	37	chr19	52132769	52132769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctgagggcattccccGtccaggagaatgtgagaggt	18	8	0	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:52132769G>A	ENST00000222107.4	-	3	680	c.542C>T	c.(541-543)aCg>aTg	p.T181M	SIGLEC5_ENST00000534261.2_Missense_Mutation_p.T181M|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T181M|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T181M|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T181M			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	181	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGCATTCCCCGTCCAGGAGAA	0.657													False	0	True	19:52132769	0	A	52132769	G	A	52132769	3	1	107	1	0	0	0	0	1	0	0	0	14392	1145	40	1	1141	1	SIGLEC5	19	52132769	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	802602	52132769	6996214	142	30710											
ZNF480	147657	broad.mit.edu	37	chr19	52817449	52817449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatagaattctctcaggCggagtggaaatgcctggacc	13	10	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:52817449C>T	ENST00000595962.1	+	3	182	c.116C>T	c.(115-117)gCg>gTg	p.A39V	ZNF480_ENST00000335090.6_Intron|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000334564.7_Missense_Mutation_p.A39V	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTCTCTCAGGCGGAGTGGAAA	0.473													False	0	False	19:52817449	0	T	52817449	C	T	52817449	3	4	107	1	0	0	0	0	1	0	0	0	18018	768	27	1	122	1	ZNF480	19	52817449	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	684680	52817449	6311534	143	30711											
PRPF31	26121	broad.mit.edu	37	chr19	54625963	54625963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgcactggattacatccGcacggtcaaggtgagcgcag	12	11	1	1	rs147725190		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:54625963G>A	ENST00000321030.4	+	5	759	c.410G>A	c.(409-411)cGc>cAc	p.R137H	PRPF31_ENST00000419967.1_Missense_Mutation_p.R137H|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Missense_Mutation_p.R137H	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	137					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GATTACATCCGCACGGTCAAG	0.577													False	0	False	19:54625963	0	A	54625963	G	A	54625963	3	1	107	1	0	0	0	0	1	0	0	0	12642	1087	38	1	424	1	PRPF31	19	54625963	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1808514	54625963	4503020	144	30712											
ZNF549	256051	broad.mit.edu	37	chr19	58049499	58049499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttattcattcctatgaccGcattcgacaccagagagttc	6	11	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:58049499G>A	ENST00000376233.3	+	4	1308	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R363H|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCTATGACCGCATTCGACAC	0.433													False	0	False	19:58049499	0	A	58049499	G	A	58049499	3	1	107	1	0	0	0	0	1	0	0	0	18064	1087	38	1	1098	1	ZNF549	19	58049499	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	3423536	58049499	1079484	145	30713											
ZNF418	147686	broad.mit.edu	37	chr19	58437576	58437576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgaaggagagaagagcttCgatgaaatgattttccacat	11	6	0	4			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:58437576C>T	ENST00000396147.1	-	4	2264	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	ZNF418_ENST00000599852.1_Missense_Mutation_p.R573Q|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.R679Q|ZNF418_ENST00000595830.1_Missense_Mutation_p.R658Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AGAAGAGCTTCGATGAAATGA	0.413													False	0	False	19:58437576	0	T	58437576	C	T	58437576	3	4	107	1	0	0	0	0	1	0	0	0	17978	884	31	1	61	1	ZNF418	19	58437576	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	388077	58437576	691407	146	30714											
RIN2	54453	broad.mit.edu	37	chr20	19970910	19970910	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaaggtcatgctgctgCtgcgggtctgcaagctcatt	12	9	3	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:19970910C>A	ENST00000255006.6	+	9	2319	c.2170C>A	c.(2170-2172)Ctg>Atg	p.L724M	RIN2_ENST00000440354.2_Missense_Mutation_p.L242M|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	675	VPS9.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CATGCTGCTGCTGCGGGTCTG	0.557													False	0	True	20:19970910	0	A	19970910	C	A	19970910	3	1	107	1	0	0	0	0	1	0	0	0	13451	796	28	3	2053	3	RIN2	20	19970910	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		19970910	43054610	147	30715											
INSM1	3642	broad.mit.edu	37	chr20	20349690	20349690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggggccgcgcggggggcgCggcgcggccgctgggcgagt	25	13	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:20349690C>T	ENST00000310227.1	+	1	926	c.779C>T	c.(778-780)gCg>gTg	p.A260V		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	260					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		gcggggggcgcggcgcggccg	0.716													False	0	True	20:20349690	0	T	20349690	C	T	20349690	3	4	107	1	0	0	0	0	1	0	0	0	7821	768	27	1	781	1	INSM1	20	20349690	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	378780	20349690	42675830	148	30716											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-													atgcagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55													False	1	True	20:46279833	0	-	46279834	GC	-	46279833	7	5	107	1	0	1	0	1	0	0	0	0	10298	962	34	0	3859	0	NCOA3	20	46279833	Frame_Shift_Del	DEL	GC	TCGA-IB-A6UG-01A-32D-A33T-08	25930143	46279833	16745687	149	30717											
DSCAM	1826	broad.mit.edu	37	chr21	41648061	41648061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacttgctgacgtctgcGcccacatcgttgctgacctt	10	13	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr21:41648061G>A	ENST00000400454.1	-	11	2796	c.2319C>T	c.(2317-2319)ggC>ggT	p.G773G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	773	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGACGTCTGCGCCCACATCGT	0.483													False	0	True	21:41648061	0	A	41648061	G	A	41648061	2	1	107	1	0	0	0	0	0	0	0	1	4798	1074	38	1		1	DSCAM	21	41648061	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		41648061	6481834	150	30718											
COL6A1	1291	broad.mit.edu	37	chr21	47423408	47423408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcgccaagcgcctggcCgagcgcttcctcacagcggg	13	17	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr21:47423408C>T	ENST00000361866.3	+	35	2682	c.2568C>T	c.(2566-2568)gcC>gcT	p.A856A	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	856	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGCGCCTGGCCGAGCGCTTCC	0.706													False	0	False	21:47423408	0	T	47423408	C	T	47423408	2	4	107	1	0	0	0	0	0	0	0	1	3722	639	23	1		1	COL6A1	21	47423408	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	5775347	47423408	706487	151	30719											
POTEH	23784	broad.mit.edu	37	chr22	16279226	16279226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccagtgcatttaaatttgCttttttcttgattaaaaatt	4	5	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:16279226C>A	ENST00000343518.6	-	4	1048	c.997G>T	c.(997-999)Gca>Tca	p.A333S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	333										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTTAAATTTGCTTTTTTCTTG	0.323													False	0	True	22:16279226	0	A	16279226	C	A	16279226	3	1	107	1	0	0	0	0	1	0	0	0	12336	797	28	3	668	3	POTEH	22	16279226	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		16279226	35025340	152	30720											
CLTCL1	8218	broad.mit.edu	37	chr22	19220769	19220769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgcttggcacatttgcccGaaggtacacactcagagcga	10	11	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:19220769G>A	ENST00000263200.10	-	9	1513	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R481W|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R481W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	481	Flexible linker.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	p.R481W(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACATTTGCCCGAAGGTACACA	0.498			T	?	ALCL								False	0	True	22:19220769	0	A	19220769	G	A	19220769	3	1	107	1	0	0	0	0	1	0	0	0	3590	1057	37	1	3577	1	CLTCL1	22	19220769	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2941543	19220769	32083797	153	30721											
RTDR1	27156	broad.mit.edu	37	chr22	23406095	23406095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctgacattaaggagcGcacgggcggccttgctgcgg	14	13	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:23406095G>A	ENST00000216036.4	-	5	834	c.638C>T	c.(637-639)gCg>gTg	p.A213V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	213							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		ATTAAGGAGCGCACGGGCGGC	0.632													False	0	False	22:23406095	0	A	23406095	G	A	23406095	3	1	107	1	0	0	0	0	1	0	0	0	13798	1087	38	1	420	1	RTDR1	22	23406095	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	4185326	23406095	27898471	154	30722											
GNAZ	2781	broad.mit.edu	37	chr22	23438122	23438122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctacaatgccatcgactcGctgacccgcatcatccgggc	8	16	2	1	rs143475223		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:23438122G>A	ENST00000248996.4	+	2	906	c.240G>A	c.(238-240)tcG>tcA	p.S80S	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	80						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCATCGACTCGCTGACCCGCA	0.622													False	0	False	22:23438122	0	A	23438122	G	A	23438122	2	1	107	1	0	0	0	0	0	0	0	1	6559	1074	38	1		1	GNAZ	22	23438122	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	32027	23438122	27866444	155	30723											
MYH9	4627	broad.mit.edu	37	chr22	36712651	36712651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagccttgttgatgcgcaGcaccagccagcggaacatcc	11	14	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:36712651G>A	ENST00000216181.5	-	12	1521	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	431	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGATGCGCAGCACCAGCCAG	0.607			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				False	0	False	22:36712651	0	A	36712651	G	A	36712651	2	1	107	1	0	0	0	0	0	0	0	1	10109	962	34	2		2	MYH9	22	36712651	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	13274529	36712651	14591915	156	30724											
MCHR1	0	broad.mit.edu	37	chr22	41077637	41077637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggacaaagagggtgacccGcacagccatcgccatctgtc	12	14	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:41077637G>A	ENST00000249016.4	+	2	1670	c.974G>A	c.(973-975)cGc>cAc	p.R325H	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.R199H	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	325					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						AGGGTGACCCGCACAGCCATC	0.617													False	0	True	22:41077637	0	A	41077637	G	A	41077637	3	1	107	1	0	0	0	0	1	0	0	0	9449	1087	38	1	980	1	MCHR1	22	41077637	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	4364986	41077637	10226929	157	30725											
YY2	404281	broad.mit.edu	37	chrX	21875407	21875407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagatgttccgggattacGccgccatgagaaaacatctc	9	10	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:21875407G>A	ENST00000429584.2	+	1	1303	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	269	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CCGGGATTACGCCGCCATGAG	0.498													False	0	False	X:21875407	0	A	21875407	G	A	21875407	3	1	107	1	0	0	0	0	1	0	0	0	17593	1087	38	1	807	1	YY2	23	21875407	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		21875407	133395153	158	30726											
AR	367	broad.mit.edu	37	chrX	66765222	66765223	+	Frame_Shift_Del	DEL	GC	GC	-													cagcagcagcagcagcagcaGcagcaagagactagccccag							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:66765222_66765223delGC	ENST00000374690.3	+	1	758_759	c.234_235delGC	c.(232-237)cagcagfs	p.QQ78fs	AR_ENST00000396044.3_Frame_Shift_Del_p.QQ78fs|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Frame_Shift_Del_p.QQ78fs	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	78	Gln-rich.|Modulating.|Poly-Gln.		Missing.		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	agcagcagcagcagcaagagac	0.653									Androgen Insensitivity Syndrome				False	1	True	X:66765222	0	-	66765223	GC	-	66765222	7	5	107	1	0	1	0	1	0	0	0	0	838	962	34	0	236	0	AR	23	66765222	Frame_Shift_Del	DEL	GC	TCGA-IB-A6UG-01A-32D-A33T-08	44889815	66765222	88505338	159	30727											
PTCHD2	57540	broad.mit.edu	37	chr1	11561859	11561859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccaacactcagacgcaCgcgcactggcgcatcgagct	11	15	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:11561859C>T	ENST00000294484.6	+	2	948	c.810C>T	c.(808-810)caC>caT	p.H270H	PTCHD2_ENST00000389575.3_Silent_p.H270H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	270					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCAGACGCACGCGCACTGGC	0.677													False	0	True	1:11561859	0	T	11561859	C	T	11561859	2	4	108	1	0	0	0	0	0	0	0	1	12809	535	19	1		1	PTCHD2	1	11561859	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08		11561859	237688762	1	30728											
SPAG17	200162	broad.mit.edu	37	chr1	118609502	118609502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatcaacacacctatattgCttatgggcttcttgaaggac	8	9	2	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:118609502C>T	ENST00000336338.5	-	18	2471	c.2406G>A	c.(2404-2406)aaG>aaA	p.K802K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	802						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACCTATATTGCTTATGGGCTT	0.358													False	0	False	1:118609502	0	T	118609502	C	T	118609502	2	4	108	1	0	0	0	0	0	0	0	1	15061	796	28	2		2	SPAG17	1	118609502	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	107047643	118609502	130641119	2	30729											
THBS3	7059	broad.mit.edu	37	chr1	155170966	155170966	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtcagtcccacacacGttcccattcccagcccagcc	6	19	2	0	rs150820199	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:155170966G>A	ENST00000541990.1	-	0	1365				RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000457183.2_Silent_p.N333N|THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000541576.1_Intron|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000368378.3_Silent_p.N453N			P49746	TSP3_HUMAN	thrombospondin 3						cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	p.N453N(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCACACACGTTCCCATTCC	0.567													False	0	True	1:155170966	0	A	155170966	G	A	155170966	1	1	108	1	0	0	0	0	0	0	0	0	15937	1136	40	1		1	THBS3	1	155170966	Translation_Start_Site	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	36561464	155170966	94079655	3	30730											
CACNA1E	777	broad.mit.edu	37	chr1	181707541	181707541	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatgtgttcacgggcgtgttCacctttgagatggttataaa	11	6	2	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:181707541C>A	ENST00000526775.1	+	23	3699	c.3534C>A	c.(3532-3534)ttC>ttA	p.F1178L	CACNA1E_ENST00000367573.2_Missense_Mutation_p.F1197L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1148L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1178L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1197L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F804L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1129L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1197					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGGGCGTGTTCACCTTTGAGA	0.468													False	0	False	1:181707541	0	A	181707541	C	A	181707541	3	1	108	1	0	0	0	0	1	0	0	0	2562	825	29	3	3685	3	CACNA1E	1	181707541	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	26536575	181707541	67543080	4	30731											
KDM5B	10765	broad.mit.edu	37	chr1	202724554	202724554	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccatcactggcatgttgttCaaattccagccactatcaag	6	12	3	0	rs76768289		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:202724554C>A	ENST00000367265.3	-	11	2547	c.1383G>T	c.(1381-1383)ttG>ttT	p.L461F	KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	461	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GCATGTTGTTCAAATTCCAGC	0.378													False	0	True	1:202724554	0	A	202724554	C	A	202724554	3	1	108	1	0	0	0	0	1	0	0	0	8184	825	29	3	3319	3	KDM5B	1	202724554	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	21017013	202724554	46526067	5	30732											
RYR2	6262	broad.mit.edu	37	chr1	237995882	237995882	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctggaagatgtatcaagaaAggtgttgggaatttttccca	11	5	2	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:237995882A>T	ENST00000366574.2	+	105	15156	c.14839A>T	c.(14839-14841)Agg>Tgg	p.R4947W	RYR2_ENST00000360064.6_Missense_Mutation_p.R4953W|RYR2_ENST00000542537.1_Missense_Mutation_p.R4931W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4947					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTATCAAGAAAGGTGTTGGGA	0.388													False	0	True	1:237995882	0	T	237995882	A	T	237995882	3	4	108	1	0	0	0	0	1	0	0	0	13848	63	3	5	15257	5	RYR2	1	237995882	Missense_Mutation	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08	35271328	237995882	11254739	6	30733											
GREM2	64388	broad.mit.edu	37	chr1	240656454	240656454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccttcttcacgtgccGcgggatgtagaaggagttgc	12	12	2	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:240656454G>A	ENST00000318160.4	-	2	588	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	108	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TTCACGTGCCGCGGGATGTAG	0.672													False	0	False	1:240656454	0	A	240656454	G	A	240656454	3	1	108	1	0	0	0	0	1	0	0	0	6809	1086	38	1	188	1	GREM2	1	240656454	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	2660572	240656454	8594167	7	30734											
SDCCAG8	10806	broad.mit.edu	37	chr1	243507631	243507631	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggatcttgaaattaaagatCaggtaagagaggacacagca	12	5	2	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:243507631C>A	ENST00000366541.3	+	12	1589	c.1471C>A	c.(1471-1473)Cag>Aag	p.Q491K	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.Q448K|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.Q346K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	491	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AATTAAAGATCAGGTAAGAGA	0.353													False	0	False	1:243507631	0	A	243507631	C	A	243507631	3	1	108	1	0	0	0	0	1	0	0	0	14040	827	29	3	1517	3	SDCCAG8	1	243507631	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	2851177	243507631	5742990	8	30735											
OR2W5	0	broad.mit.edu	37	chr1	247655339	247655339	+	RNA	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaggggaccatgaagaaActtctggggtgggagaaagg	18	4	1	4			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:247655339A>T	ENST00000522351.1	+	0	970							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCATGAAGAAACTTCTGGGGT	0.507													False	0	True	1:247655339	0	T	247655339	A	T	247655339	1	4	108	0	1	0	0	0	0	0	0	0	11102	43	2	5		5	OR2W5	1	247655339	RNA	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08	4147708	247655339	1595282	9	30736											
PGBD2	0	broad.mit.edu	37	chr1	249211293	249211293	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatgcttggcagaaaaatgtCaatttgagtcttacggctca	9	7	3	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:249211293C>A	ENST00000539153.1	+	4	756	c.501C>A	c.(499-501)gtC>gtA	p.V167V	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Silent_p.V170V|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	170										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGAAAAATGTCAATTTGAGTC	0.383													False	0	False	1:249211293	0	A	249211293	C	A	249211293	2	1	108	1	0	0	0	0	0	0	0	1	11850	813	29	3		3	PGBD2	1	249211293	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	1555954	249211293	39328	10	30737											
RTKN	6242	broad.mit.edu	37	chr2	74654657	74654657	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatccccatactggttactGatgcttagggtgaagggccg	12	10	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:74654657G>A	ENST00000305557.5	-	11	1695	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	RTKN_ENST00000233330.6_Silent_p.I333I|RTKN_ENST00000272430.5_Silent_p.I383I	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	383	PH.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						ACTGGTTACTGATGCTTAGGG	0.557													False	0	False	2:74654657	0	A	74654657	G	A	74654657	2	1	108	1	0	0	0	0	0	0	0	1	13801	1280	45	2		2	RTKN	2	74654657	Silent	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		74654657	168544716	11	30738											
DNAH6	1768	broad.mit.edu	37	chr2	84784998	84784998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacctgtggaactgggcCaagtttagcagcagtatttg	11	7	0	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:84784998C>T	ENST00000389394.3	+	11	1879	c.1742C>T	c.(1741-1743)cCa>cTa	p.P581L	DNAH6_ENST00000237449.6_Missense_Mutation_p.P581L|DNAH6_ENST00000398278.2_Missense_Mutation_p.P581L	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	581	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGAACTGGGCCAAGTTTAGCA	0.343													False	0	False	2:84784998	0	T	84784998	C	T	84784998	3	4	108	1	0	0	0	0	1	0	0	0	4635	594	21	2	1780	2	DNAH6	2	84784998	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	10130341	84784998	158414375	12	30739											
RPIA	22934	broad.mit.edu	37	chr2	89035229	89035229	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgtggctggctatgctagtCgcttcatcgtgatcgctgat	12	9	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:89035229C>A	ENST00000283646.4	+	6	626	c.571C>A	c.(571-573)Cgc>Agc	p.R191S		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	191					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CTATGCTAGTCGCTTCATCGT	0.493													False	0	False	2:89035229	0	A	89035229	C	A	89035229	3	1	108	1	0	0	0	0	1	0	0	0	13632	884	31	3	593	3	RPIA	2	89035229	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	4250231	89035229	154164144	13	30740											
CHST10	9486	broad.mit.edu	37	chr2	101010109	101010109	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccggttcctcctgtatttTctgatgatgccaggagcaat	10	10	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:101010109T>C	ENST00000264249.3	-	7	1054	c.669A>G	c.(667-669)agA>agG	p.R223R	CHST10_ENST00000409701.1_Silent_p.R223R|CHST10_ENST00000542617.1_Silent_p.R271R	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	223					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TCCTGTATTTTCTGATGATGC	0.483													False	0	True	2:101010109	0	C	101010109	T	C	101010109	2	2	108	1	0	0	0	0	0	0	0	1	3421	1780	62	4		4	CHST10	2	101010109	Silent	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	11974880	101010109	142189264	14	30741											
SCN3A	6328	broad.mit.edu	37	chr2	165947203	165947203	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctatgagaagaggaggatcCagggcagctgcaaaatcaga	14	7	1	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:165947203C>A	ENST00000360093.3	-	28	5951	c.5460G>T	c.(5458-5460)ctG>ctT	p.L1820L	SCN3A_ENST00000409101.3_Silent_p.L1771L|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Silent_p.L1820L|SCN3A_ENST00000540861.1_Silent_p.L303L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1820						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GAGGAGGATCCAGGGCAGCTG	0.448													False	0	False	2:165947203	0	A	165947203	C	A	165947203	2	1	108	1	0	0	0	0	0	0	0	1	13999	581	21	3		3	SCN3A	2	165947203	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	64937094	165947203	77252170	15	30742											
SF3B1	23451	broad.mit.edu	37	chr2	198265629	198265629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatttctgctgcacctactTtgtttgccaactccacagta	5	12	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:198265629T>C	ENST00000335508.6	-	18	2619	c.2528A>G	c.(2527-2529)aAa>aGa	p.K843R		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGCACCTACTTTGTTTGCCAA	0.348			Mis		myelodysplastic syndrome								False	0	True	2:198265629	0	C	198265629	T	C	198265629	3	2	108	1	0	0	0	0	1	0	0	0	14230	1841	64	4	1418	4	SF3B1	2	198265629	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	32318426	198265629	44933744	16	30743											
SF3B1	23451	broad.mit.edu	37	chr2	198266713	198266713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taattggtggatttacctttCctctgtgttggcggataccc	10	9	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:198266713C>T	ENST00000335508.6	-	15	2310	c.2219G>A	c.(2218-2220)gGa>gAa	p.G740E		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.G740E(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTACCTTTCCTCTGTGTTG	0.343			Mis		myelodysplastic syndrome								False	0	True	2:198266713	0	T	198266713	C	T	198266713	3	4	108	1	0	0	0	0	1	0	0	0	14230	855	30	2	1739	2	SF3B1	2	198266713	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	1084	198266713	44932660	17	30744											
JAGN1	84522	broad.mit.edu	37	chr3	9934901	9934901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcacagcagctctaccGccatggcaaggcctaccgtt	10	15	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:9934901G>A	ENST00000307768.4	+	2	561	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1 (Drosophila)	131						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					CAGCTCTACCGCCATGGCAAG	0.527													False	0	False	3:9934901	0	A	9934901	G	A	9934901	3	1	108	1	0	0	0	0	1	0	0	0	7986	1087	38	1	398	1	JAGN1	3	9934901	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		9934901	188087529	18	30745											
DOCK3	1795	broad.mit.edu	37	chr3	51312611	51312611	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggattcttggcagcatcTtctccatcgtcaagaccagc	9	13	4	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:51312611T>G	ENST00000266037.9	+	25	2673	c.2650T>G	c.(2650-2652)Ttc>Gtc	p.F884V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	884						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGGCAGCATCTTCTCCATCGT	0.537													False	0	False	3:51312611	0	G	51312611	T	G	51312611	3	3	108	1	0	0	0	0	1	0	0	0	4718	1609	56	4	2748	4	DOCK3	3	51312611	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	41377710	51312611	146709819	19	30746											
CPNE4	131034	broad.mit.edu	37	chr3	131283152	131283152	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtagtgcaaggaacagctGttcctggggtccccgtttga	13	9	0	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:131283152G>C	ENST00000512055.1	-	15	3095	c.969C>G	c.(967-969)aaC>aaG	p.N323K	CPNE4_ENST00000512332.1_Missense_Mutation_p.N341K|CPNE4_ENST00000429747.1_Missense_Mutation_p.N323K|CPNE4_ENST00000511604.1_Missense_Mutation_p.N323K|CPNE4_ENST00000502818.1_Missense_Mutation_p.N341K			Q96A23	CPNE4_HUMAN	copine IV	323	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGGAACAGCTGTTCCTGGGGT	0.433													False	0	False	3:131283152	0	C	131283152	G	C	131283152	3	2	108	1	0	0	0	0	1	0	0	0	3837	1368	48	5	728	5	CPNE4	3	131283152	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	79970541	131283152	66739278	20	30747											
FAM194A	131831	broad.mit.edu	37	chr3	150391782	150391782	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaatgaagtcagaaacTtgctcccatgtttgtagtgc	10	8	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:150391782T>G	ENST00000295910.6	-	11	1356	c.1304A>C	c.(1303-1305)aAg>aCg	p.K435T	FAM194A_ENST00000491361.1_Missense_Mutation_p.K289T	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	435										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGTCAGAAACTTGCTCCCATG	0.333													False	0	False	3:150391782	0	G	150391782	T	G	150391782	3	3	108	1	0	0	0	0	1	0	0	0	5562	1609	56	4	703	4	FAM194A	3	150391782	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	19108630	150391782	47630648	21	30748											
ACTL6A	86	broad.mit.edu	37	chr3	179291168	179291168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atattctagttgaagactggGatagtttccaagctattttg	9	5	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:179291168G>A	ENST00000429709.2	+	4	502	c.289G>A	c.(289-291)Gat>Aat	p.D97N	ACTL6A_ENST00000450518.2_Missense_Mutation_p.D55N|ACTL6A_ENST00000392662.1_Missense_Mutation_p.D55N	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	97					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TGAAGACTGGGATAGTTTCCA	0.353													False	0	True	3:179291168	0	A	179291168	G	A	179291168	3	1	108	1	0	0	0	0	1	0	0	0	198	1174	41	2	303	2	ACTL6A	3	179291168	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	28899386	179291168	18731262	22	30749											
GPR125	166647	broad.mit.edu	37	chr4	22422588	22422588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtttccctctggatccCgcctcccataatccgaaagt	7	16	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:22422588C>A	ENST00000334304.5	-	12	1999	c.1730G>T	c.(1729-1731)cGg>cTg	p.R577L	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.R351L|GPR125_ENST00000502482.1_Missense_Mutation_p.R577L	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	577					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.R577L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCTGGATCCCGCCTCCCATA	0.468													False	0	True	4:22422588	0	A	22422588	C	A	22422588	3	1	108	1	0	0	0	0	1	0	0	0	6685	652	23	3	2267	3	GPR125	4	22422588	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08		22422588	168731688	23	30750											
TBC1D1	23216	broad.mit.edu	37	chr4	38134830	38134830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggataaattagagaaaacCaacagcagcttacgcaaaca	7	8	0	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:38134830C>T	ENST00000261439.4	+	19	3613	c.3258C>T	c.(3256-3258)acC>acT	p.T1086T	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Silent_p.T1077T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1086						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TAGAGAAAACCAACAGCAGCT	0.393													False	0	False	4:38134830	0	T	38134830	C	T	38134830	2	4	108	1	0	0	0	0	0	0	0	1	15679	581	21	2		2	TBC1D1	4	38134830	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	15712242	38134830	153019446	24	30751											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68725370	68725370	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctacatatggattcagaaatCttgaagtcgaagttacacgt	8	7	2	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:68725370C>T	ENST00000283916.6	-	2	133	c.35G>A	c.(34-36)aGa>aAa	p.R12K	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron|TMPRSS11D_ENST00000545541.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	12					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATTCAGAAATCTTGAAGTCGA	0.388													False	0	False	4:68725370	0	T	68725370	C	T	68725370	3	4	108	1	0	0	0	0	1	0	0	0	16323	913	32	2	1257	2	TMPRSS11D	4	68725370	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	30590540	68725370	122428906	25	30752											
FAT4	79633	broad.mit.edu	37	chr4	126411862	126411862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacaacgccagcagcatcGccccttcggatgcagacatc	9	15	0	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:126411862G>A	ENST00000394329.3	+	17	13898	c.13885G>A	c.(13885-13887)Gcc>Acc	p.A4629T	FAT4_ENST00000335110.5_Missense_Mutation_p.A2870T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4629					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCAGCATCGCCCCTTCGGA	0.512													False	0	True	4:126411862	0	A	126411862	G	A	126411862	3	1	108	1	0	0	0	0	1	0	0	0	5732	1087	38	1	13951	1	FAT4	4	126411862	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	57686492	126411862	64742414	26	30753											
FAM134B	54463	broad.mit.edu	37	chr5	16479052	16479052	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgctgtaaattttttgtcCaatatcattacatttaaaca	3	6	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:16479052C>A	ENST00000306320.9	-	6	801	c.715G>T	c.(715-717)Gga>Tga	p.G239*	FAM134B_ENST00000399793.2_Nonsense_Mutation_p.G98*	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	239					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						ATTTTTTGTCCAATATCATTA	0.343													False	0	False	5:16479052	0	A	16479052	C	A	16479052	4	1	108	1	0	0	0	0	0	1	0	0	5482	603	21	3	794	3	FAM134B	5	16479052	Nonsense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08		16479052	164436208	27	30754											
MYOT	9499	broad.mit.edu	37	chr5	137219194	137219194	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcactcatctttgaagtagTcagagcttcagatgcagggg	11	8	5	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:137219194T>A	ENST00000239926.4	+	7	1312	c.938T>A	c.(937-939)gTc>gAc	p.V313D	MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.V129D|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.V198D	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	313	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTGAAGTAGTCAGAGCTTCA	0.443													False	0	False	5:137219194	0	A	137219194	T	A	137219194	3	1	108	1	0	0	0	0	1	0	0	0	10161	1667	58	5	960	5	MYOT	5	137219194	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	120740142	137219194	43696066	28	30755											
COL23A1	91522	broad.mit.edu	37	chr5	177676127	177676127	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccacataccgggaggccGgacaagcccatctcgcctgc	11	17	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:177676127G>T	ENST00000390654.3	-	19	1497	c.1140C>A	c.(1138-1140)tcC>tcA	p.S380S		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	380	Collagen-like 3.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCGGGAGGCCGGACAAGCCCA	0.637													False	0	False	5:177676127	0	T	177676127	G	T	177676127	2	4	108	1	0	0	0	0	0	0	0	1	3705	1103	39	3		3	COL23A1	5	177676127	Silent	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	40456933	177676127	3239133	29	30756											
HSPA1L	0	broad.mit.edu	37	chr6	31779009	31779009	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctttttgtgtttcctcttGaactcctccacgaagtggct	7	12	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:31779009G>T	ENST00000375654.4	-	2	930	c.741C>A	c.(739-741)ttC>ttA	p.F247L	HSPA1L_ENST00000417199.3_Missense_Mutation_p.F247L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	247					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTTTCCTCTTGAACTCCTCCA	0.577													False	0	False	6:31779009	0	T	31779009	G	T	31779009	3	4	108	1	0	0	0	0	1	0	0	0	7459	1281	45	3	1188	3	HSPA1L	6	31779009	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		31779009	139336058	30	30757											
MAP3K5	4217	broad.mit.edu	37	chr6	137113237	137113237	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcggggatggtgcagaagCccgagggggcgaagggtggc	21	9	0	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:137113237C>G	ENST00000359015.4	-	1	419	c.59G>C	c.(58-60)gGc>gCc	p.G20A		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	20					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGTGCAGAAGCCCGAGGGGGC	0.751													False	0	True	6:137113237	0	G	137113237	C	G	137113237	3	3	108	1	0	0	0	0	1	0	0	0	9320	739	26	5	4185	5	MAP3K5	6	137113237	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	105334228	137113237	34001830	31	30758											
AKAP9	10142	broad.mit.edu	37	chr7	91736667	91736667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggagttatatggagaacCaagacatactacgtatcgct	10	8	0	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:91736667C>A	ENST00000359028.2	+	48	11714	c.11489C>A	c.(11488-11490)cCa>cAa	p.P3830Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.P3826Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.P3776Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3830					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATGGAGAACCAAGACATACT	0.368			T	BRAF	papillary thyroid								False	0	False	7:91736667	0	A	91736667	C	A	91736667	3	1	108	1	0	0	0	0	1	0	0	0	459	594	21	3	11667	3	AKAP9	7	91736667	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08		91736667	67401996	32	30759											
SAMD9	54809	broad.mit.edu	37	chr7	92731348	92731348	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtgcttatagcatcctcttGacttttgataagatattcca	6	8	1	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:92731348G>T	ENST00000379958.2	-	3	4332	c.4063C>A	c.(4063-4065)Caa>Aaa	p.Q1355K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1355						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GCATCCTCTTGACTTTTGATA	0.353													False	0	False	7:92731348	0	T	92731348	G	T	92731348	3	4	108	1	0	0	0	0	1	0	0	0	13905	1299	45	3	710	3	SAMD9	7	92731348	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	994681	92731348	66407315	33	30760											
DYNC1I1	1780	broad.mit.edu	37	chr7	95665004	95665004	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctttcccaacgggagacgTcaataacttcgtggttggca	12	10	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:95665004T>A	ENST00000324972.6	+	13	1548	c.1355T>A	c.(1354-1356)gTc>gAc	p.V452D	DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V435D|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V432D|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V415D|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V435D|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V415D	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	452					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACGGGAGACGTCAATAACTTC	0.463													False	0	False	7:95665004	0	A	95665004	T	A	95665004	3	1	108	1	0	0	0	0	1	0	0	0	4872	1667	58	5	1401	5	DYNC1I1	7	95665004	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	2933656	95665004	63473659	34	30761											
LAMB4	22798	broad.mit.edu	37	chr7	107743496	107743496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggggactcacgaatgcaCgcgtagggatctgagatggt	15	10	2	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:107743496C>T	ENST00000388781.3	-	10	1256	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A	LAMB4_ENST00000205386.4_Silent_p.A391A|LAMB4_ENST00000414450.2_Silent_p.A391A|LAMB4_ENST00000388780.3_Silent_p.A391A|LAMB4_ENST00000418464.1_Silent_p.A391A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	391	Laminin EGF-like 2.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACGAATGCACGCGTAGGGAT	0.577													False	0	False	7:107743496	0	T	107743496	C	T	107743496	2	4	108	1	0	0	0	0	0	0	0	1	8664	523	19	1		1	LAMB4	7	107743496	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	12078492	107743496	51395167	35	30762											
KCTD9	54793	broad.mit.edu	37	chr8	25296876	25296876	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgaagtactcaggacttcGgtcaattaagaaagctcctc	8	10	2	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:25296876G>T	ENST00000221200.4	-	6	638	c.418C>A	c.(418-420)Cga>Aga	p.R140R	KCTD9_ENST00000518067.1_5'UTR	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	140	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TCAGGACTTCGGTCAATTAAG	0.368													False	0	False	8:25296876	0	T	25296876	G	T	25296876	2	4	108	1	0	0	0	0	0	0	0	1	8166	1124	39	3		3	KCTD9	8	25296876	Silent	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		25296876	121067146	36	30763											
PREX2	80243	broad.mit.edu	37	chr8	68981315	68981315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacagatgttatatagatttCgctatgatgatggaacattt	8	4	0	4			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:68981315C>T	ENST00000288368.4	+	12	1664	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	463	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R463C(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATATAGATTTCGCTATGATGA	0.348													False	0	True	8:68981315	0	T	68981315	C	T	68981315	3	4	108	1	0	0	0	0	1	0	0	0	12553	884	31	1	1433	1	PREX2	8	68981315	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	43684439	68981315	77382707	37	30764											
JPH1	56704	broad.mit.edu	37	chr8	75227735	75227735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccattgctctgctcgctgCgcagcgaggccagcgaggta	14	13	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:75227735C>T	ENST00000342232.4	-	2	540	c.500G>A	c.(499-501)cGc>cAc	p.R167H		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	167					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTGCTCGCTGCGCAGCGAGGC	0.721													False	0	False	8:75227735	0	T	75227735	C	T	75227735	3	4	108	1	0	0	0	0	1	0	0	0	8010	768	27	1	1501	1	JPH1	8	75227735	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	6246420	75227735	71136287	38	30765											
FAM135B	51059	broad.mit.edu	37	chr8	139144922	139144922	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgatgtgagcggctcggcCgatcagggtgttggcagtgt	18	8	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:139144922C>A	ENST00000395297.1	-	20	4305	c.4135G>T	c.(4135-4137)Ggc>Tgc	p.G1379C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1379										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCGGCTCGGCCGATCAGGGTG	0.542										HNSCC(54;0.14)			False	0	False	8:139144922	0	A	139144922	C	A	139144922	3	1	108	1	0	0	0	0	1	0	0	0	5485	652	23	3	89	3	FAM135B	8	139144922	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	63917187	139144922	7219100	39	30766											
SARDH	1757	broad.mit.edu	37	chr9	136573530	136573530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatccagcgggggtggtccGtgagcgagtgatggaagcgc	20	8	0	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr9:136573530G>A	ENST00000371872.4	-	11	1606	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M	SARDH_ENST00000439388.1_Missense_Mutation_p.T450M|SARDH_ENST00000422262.2_Missense_Mutation_p.T282M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	450					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGGGTGGTCCGTGAGCGAGTG	0.652													False	0	False	9:136573530	0	A	136573530	G	A	136573530	3	1	108	1	0	0	0	0	1	0	0	0	13921	1145	40	1	1451	1	SARDH	9	136573530	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		136573530	4639901	40	30767											
GPR158	57512	broad.mit.edu	37	chr10	25701403	25701403	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accactttcgcaaagcaaagGtaaacccaggaaccctggtt	8	12	0	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr10:25701403G>T	ENST00000376351.3	+	4	1694		c.e4+1			NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158							integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAAAGCAAAGGTAAACCCAGG	0.433													False	0	False	10:25701403	0	T	25701403	G	T	25701403	5	4	108	1	0	0	0	0	0	0	1	0	6709	1275	44	3	1350	3	GPR158	10	25701403	Splice_Site	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		25701403	109833344	41	30768											
DNHD1	144132	broad.mit.edu	37	chr11	6593035	6593035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacaggccccgggcaccaGtgacctgccagccccagccg	11	20	0	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:6593035G>A	ENST00000254579.6	+	43	14645	c.14081G>A	c.(14080-14082)aGt>aAt	p.S4694N	DNHD1_ENST00000527990.2_Missense_Mutation_p.S4694N	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4694					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCGGGCACCAGTGACCTGCCA	0.637													False	0	False	11:6593035	0	A	6593035	G	A	6593035	3	1	108	1	0	0	0	0	1	0	0	0	4698	1029	36	2	14252	2	DNHD1	11	6593035	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		6593035	128413481	42	30769											
CKAP5	9793	broad.mit.edu	37	chr11	46783565	46783565	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcacatttccaatcagtttGaacacctgatccccatgtac	4	14	2	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:46783565G>T	ENST00000529230.1	-	32	4252	c.4206C>A	c.(4204-4206)ttC>ttA	p.F1402L	CKAP5_ENST00000354558.3_Missense_Mutation_p.F1402L|CKAP5_ENST00000415402.1_Missense_Mutation_p.F1402L|CKAP5_ENST00000312055.5_Missense_Mutation_p.F1402L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1402					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CAATCAGTTTGAACACCTGAT	0.443													False	0	True	11:46783565	0	T	46783565	G	T	46783565	3	4	108	1	0	0	0	0	1	0	0	0	3468	1281	45	3	1944	3	CKAP5	11	46783565	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	40190530	46783565	88222951	43	30770											
OR4C15	81309	broad.mit.edu	37	chr11	55322649	55322649	+	Silent	SNP	T	T	A													tctgaagggcgctggaaagcTctctccacctgtggatctca							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:55322649T>A	ENST00000314644.2	+	1	867	c.867T>A	c.(865-867)gcT>gcA	p.A289A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GCTGGAAAGCTCTCTCCACCT	0.438										HNSCC(20;0.049)			False	0	True	11:55322649	0	A	55322649	T	A	55322649	2	1	108	1	0	0	0	0	0	0	0	1	11116	1538	54	5		5	OR4C15	11	55322649	Silent	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	8539084	55322649	79683867	44	30771	371	2									
OR4C15	81309	broad.mit.edu	37	chr11	55322650	55322650	+	Missense_Mutation	SNP	C	C	A													ctgaagggcgctggaaagctCtctccacctgtggatctcac							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:55322650C>A	ENST00000314644.2	+	1	868	c.868C>A	c.(868-870)Ctc>Atc	p.L290I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTGGAAAGCTCTCTCCACCTG	0.433										HNSCC(20;0.049)			False	0	True	11:55322650	0	A	55322650	C	A	55322650	3	1	108	1	0	0	0	0	1	0	0	0	11116	913	32	3	870	3	OR4C15	11	55322650	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	1	55322650	79683866	45	30772	371	2									
EML3	256364	broad.mit.edu	37	chr11	62370095	62370095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggtgcgagtcgtcgtgcGtgaatcggacgctggtcacg	17	10	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:62370095G>A	ENST00000394773.2	-	22	2850	c.2543C>T	c.(2542-2544)aCg>aTg	p.T848M	EML3_ENST00000529309.1_Silent_p.H811H|EML3_ENST00000494176.2_Silent_p.H783H|EML3_ENST00000278845.4_Missense_Mutation_p.T849M|EML3_ENST00000531557.1_Missense_Mutation_p.T631M	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	848						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTCGTCGTGCGTGAATCGGAC	0.746													False	0	True	11:62370095	0	A	62370095	G	A	62370095	3	1	108	1	0	0	0	0	1	0	0	0	5130	1145	40	1	151	1	EML3	11	62370095	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	7047445	62370095	72636421	46	30773											
C11orf30	56946	broad.mit.edu	37	chr11	76257216	76257216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttcgagtccatccactGttggctcttccctaacgaca	7	15	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:76257216G>A	ENST00000529032.1	+	19	3649	c.3649G>A	c.(3649-3651)Gtt>Att	p.V1217I	C11orf30_ENST00000525919.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000524490.1_Missense_Mutation_p.V1119I|C11orf30_ENST00000334736.3_Missense_Mutation_p.V1217I|C11orf30_ENST00000533248.1_Missense_Mutation_p.V1126I|C11orf30_ENST00000524767.1_Missense_Mutation_p.V1232I|C11orf30_ENST00000525038.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000343878.3_Intron			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1217					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCCATCCACTGTTGGCTCTTC	0.512													False	0	False	11:76257216	0	A	76257216	G	A	76257216	3	1	108	1	0	0	0	0	1	0	0	0	1644	1377	48	2	3723	2	C11orf30	11	76257216	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	13887121	76257216	58749300	47	30774											
NOX4	50507	broad.mit.edu	37	chr11	89133524	89133524	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggcacagtacaggcacaaAggtccagaaatccaaagcca	9	12	0	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:89133524A>G	ENST00000535633.1	-	10	1108	c.798T>C	c.(796-798)ccT>ccC	p.P266P	NOX4_ENST00000527626.1_Silent_p.P124P|NOX4_ENST00000542487.1_Silent_p.P266P|NOX4_ENST00000528341.1_Silent_p.P265P|NOX4_ENST00000263317.4_Silent_p.P290P|NOX4_ENST00000527956.1_Silent_p.P266P|NOX4_ENST00000534731.1_Silent_p.P290P|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000343727.5_Silent_p.P266P|NOX4_ENST00000424319.1_Silent_p.P266P|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000413594.2_Silent_p.P311P|NOX4_ENST00000532825.1_Silent_p.P266P|NOX4_ENST00000525196.1_Intron	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	290	Ferric oxidoreductase.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ACAGGCACAAAGGTCCAGAAA	0.398													False	0	True	11:89133524	0	G	89133524	A	G	89133524	2	3	108	1	0	0	0	0	0	0	0	1	10626	59	3	4		4	NOX4	11	89133524	Silent	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08	12876308	89133524	45872992	48	30775											
RERG	85004	broad.mit.edu	37	chr12	15262086	15262086	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcttgttaatggcttgcttGacatgcgtggtggagctgcg	14	7	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:15262086G>T	ENST00000256953.2	-	5	894	c.558C>A	c.(556-558)gtC>gtA	p.V186V	RERG_ENST00000536465.1_Silent_p.V186V|RERG_ENST00000546331.1_Silent_p.V167V|RERG_ENST00000538313.1_Silent_p.V186V	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	186					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						TGGCTTGCTTGACATGCGTGG	0.517													False	0	True	12:15262086	0	T	15262086	G	T	15262086	2	4	108	1	0	0	0	0	0	0	0	1	13311	1277	45	3		3	RERG	12	15262086	Silent	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		15262086	118589809	49	30776											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	108	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	10136198	25398284	108453611	50	30777											
FAR2	55711	broad.mit.edu	37	chr12	29446305	29446305	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctatttatgcagatctcaatCagaatgactttgccatcagc	6	10	3	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:29446305C>A	ENST00000536681.3	+	3	508	c.262C>A	c.(262-264)Cag>Aag	p.Q88K	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_5'UTR|FAR2_ENST00000182377.4_Missense_Mutation_p.Q88K	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2						ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						AGATCTCAATCAGAATGACTT	0.383													False	0	False	12:29446305	0	A	29446305	C	A	29446305	3	1	108	1	0	0	0	0	1	0	0	0	5715	827	29	3	268	3	FAR2	12	29446305	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	4048021	29446305	104405590	51	30778											
YEATS4	8089	broad.mit.edu	37	chr12	69759611	69759611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattactgaaacaggatggGgtgaattcgaaataatcatc	9	5	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:69759611G>T	ENST00000247843.2	+	4	550	c.280G>T	c.(280-282)Ggt>Tgt	p.G94C	YEATS4_ENST00000548020.1_Intron	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	94	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AACAGGATGGGGTGAATTCGA	0.274													False	0	True	12:69759611	0	T	69759611	G	T	69759611	3	4	108	1	0	0	0	0	1	0	0	0	17557	1232	43	3	294	3	YEATS4	12	69759611	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	40313306	69759611	64092284	52	30779											
RILPL2	196383	broad.mit.edu	37	chr12	123907604	123907604	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacttacagcttttttatgaTtgtcttctcctccttgttcc	4	12	2	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:123907604T>A	ENST00000280571.8	-	3	888	c.592A>T	c.(592-594)Atc>Ttc	p.I198F		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	198						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		TTTTTTATGATTGTCTTCTCC	0.507													False	0	False	12:123907604	0	A	123907604	T	A	123907604	3	1	108	1	0	0	0	0	1	0	0	0	13441	1493	52	5	51	5	RILPL2	12	123907604	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	54147993	123907604	9944291	53	30780											
PCDH17	27253	broad.mit.edu	37	chr13	58298909	58298909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgttgagactgagacttaCgaaactgtgaatcccactgg	10	8	0	3	rs138830034	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:58298909C>T	ENST00000377918.3	+	4	2987	c.2961C>T	c.(2959-2961)taC>taT	p.Y987Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	987					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGAGACTTACGAAACTGTGA	0.413													False	0	False	13:58298909	0	T	58298909	C	T	58298909	2	4	108	1	0	0	0	0	0	0	0	1	11580	547	19	1		1	PCDH17	13	58298909	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08		58298909	56870969	54	30781											
KDELC1	79070	broad.mit.edu	37	chr13	103443745	103443745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttccaaaggccagtctccCaaattaacaaagagctccac	5	13	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:103443745C>A	ENST00000376004.4	-	5	1044	c.708G>T	c.(706-708)ttG>ttT	p.L236F	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	236						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCCAGTCTCCCAAATTAACAA	0.398													False	0	True	13:103443745	0	A	103443745	C	A	103443745	3	1	108	1	0	0	0	0	1	0	0	0	8167	593	21	3	824	3	KDELC1	13	103443745	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	45144836	103443745	11726133	55	30782											
TEP1	7011	broad.mit.edu	37	chr14	20841221	20841221	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaagattagttccccagcTtgatttccagatactgccat	6	12	0	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:20841221T>C	ENST00000262715.5	-	48	6940	c.6900A>G	c.(6898-6900)caA>caG	p.Q2300Q	TEP1_ENST00000545983.1_Silent_p.Q638Q|TEP1_ENST00000556935.1_Silent_p.Q2192Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2300					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTTCCCCAGCTTGATTTCCAG	0.522													False	0	False	14:20841221	0	C	20841221	T	C	20841221	2	2	108	1	0	0	0	0	0	0	0	1	15841	1606	56	4		4	TEP1	14	20841221	Silent	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08		20841221	86508319	56	30783											
AKAP6	9472	broad.mit.edu	37	chr14	33291486	33291486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatgaaacagtcacaaagCgaaaaagcgcatgtggagga	11	6	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:33291486C>T	ENST00000280979.4	+	13	4637	c.4467C>T	c.(4465-4467)agC>agT	p.S1489S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1489					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGTCACAAAGCGAAAAAGCGC	0.348													False	0	False	14:33291486	0	T	33291486	C	T	33291486	2	4	108	1	0	0	0	0	0	0	0	1	455	767	27	1		1	AKAP6	14	33291486	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	12450265	33291486	74058054	57	30784											
BATF	10538	broad.mit.edu	37	chr14	75989073	75989073	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagcttcagccgctctccTccccctggcaaacaggtaga	8	17	2	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:75989073T>G	ENST00000286639.6	+	1	306	c.48T>G	c.(46-48)ccT>ccG	p.P16P	BATF_ENST00000555795.1_Intron|BATF_ENST00000555504.1_Silent_p.P16P	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	16						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GCCGCTCTCCTCCCCCTGGCA	0.587													False	0	True	14:75989073	0	G	75989073	T	G	75989073	2	3	108	1	0	0	0	0	0	0	0	1	1329	1538	54	4		4	BATF	14	75989073	Silent	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	42697587	75989073	31360467	58	30785											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84683327	84683327	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taatataacttggttgaagaGaggaggatctctgagtggca	13	4	1	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:84683327G>C	ENST00000286744.5	+	24	4231	c.4007G>C	c.(4006-4008)aGa>aCa	p.R1336T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1336T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1336	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.R1336I(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGGTTGAAGAGAGGAGGATCT	0.428													False	0	True	15:84683327	0	C	84683327	G	C	84683327	3	2	108	1	0	0	0	0	1	0	0	0	276	942	33	5	4097	5	ADAMTSL3	15	84683327	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		84683327	17848065	59	30786											
TM2D3	80213	broad.mit.edu	37	chr15	102191940	102191940	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgcgtgttgggcccGgatcctttattgactgagcc	13	9	0	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:102191940G>T	ENST00000333202.3	-	2	133	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	TM2D3_ENST00000347970.3_Intron|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000559107.1_Missense_Mutation_p.P43Q	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	43						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTTGGGCCCGGATCCTTTAT	0.423													False	0	True	15:102191940	0	T	102191940	G	T	102191940	3	4	108	1	0	0	0	0	1	0	0	0	16047	1116	39	3	635	3	TM2D3	15	102191940	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	17508613	102191940	339452	60	30787											
DHX38	9785	broad.mit.edu	37	chr16	72130794	72130794	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagagttttgggaacgcagtCggcagagagagcgggagcgg	19	6	0	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr16:72130794C>A	ENST00000268482.3	+	3	906	c.397C>A	c.(397-399)Cgg>Agg	p.R133R	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	133					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGAACGCAGTCGGCAGAGAGA	0.542													False	0	False	16:72130794	0	A	72130794	C	A	72130794	2	1	108	1	0	0	0	0	0	0	0	1	4541	875	31	3		3	DHX38	16	72130794	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08		72130794	18223959	61	30788											
CCL7	6354	broad.mit.edu	37	chr17	32597292	32597292	+	Translation_Start_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caattctcatgtggaagcccAtgccctcaccctccaacatg	6	16	2	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:32597292A>T	ENST00000378569.2	+	0	53				CCL7_ENST00000394627.1_De_novo_Start_InFrame|CCL7_ENST00000394630.3_De_novo_Start_InFrame|CCL7_ENST00000200307.4_Missense_Mutation_p.M5L	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7						cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGGAAGCCCATGCCCTCACC	0.547													False	0	True	17:32597292	0	T	32597292	A	T	32597292	1	4	108	1	0	0	0	0	0	0	0	0	2929	232	8	5		5	CCL7	17	32597292	Translation_Start_Site	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08		32597292	48597918	62	30789											
MED1	5469	broad.mit.edu	37	chr17	37565824	37565824	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccactttggctgctttcatCaaaatattcttctccaaaac	3	13	4	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:37565824C>A	ENST00000300651.6	-	17	2873	c.2650G>T	c.(2650-2652)Gat>Tat	p.D884Y	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	884	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTGCTTTCATCAAAATATTCT	0.398										HNSCC(31;0.082)			False	0	True	17:37565824	0	A	37565824	C	A	37565824	3	1	108	1	0	0	0	0	1	0	0	0	9492	826	29	3	2099	3	MED1	17	37565824	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	4968532	37565824	43629386	63	30790											
KRT28	162605	broad.mit.edu	37	chr17	38949428	38949428	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttagatgaattcccagggcTtcctgatccaaagccctttg	8	11	0	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:38949428T>A	ENST00000306658.7	-	7	1296	c.1231A>T	c.(1231-1233)Agc>Tgc	p.S411C		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	411	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCCCAGGGCTTCCTGATCCA	0.313													False	0	False	17:38949428	0	A	38949428	T	A	38949428	3	1	108	1	0	0	0	0	1	0	0	0	8515	1609	56	5	171	5	KRT28	17	38949428	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	1383604	38949428	42245782	64	30791											
ANKRD24	170961	broad.mit.edu	37	chr19	4219594	4219594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgggccacaggtgcagCgtgaggccctgttcatgaag	16	10	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:4219594C>T	ENST00000600132.1	+	19	3286	c.3010C>T	c.(3010-3012)Cgt>Tgt	p.R1004C	ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1004C|ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1094C	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1004										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ACAGGTGCAGCGTGAGGCCCT	0.572													False	0	False	19:4219594	0	T	4219594	C	T	4219594	3	4	108	1	0	0	0	0	1	0	0	0	653	768	27	1	3080	1	ANKRD24	19	4219594	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08		4219594	54909389	65	30792											
ZNF90	7643	broad.mit.edu	37	chr19	20215121	20215121	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctggacactgcacagcAgaatttatatagggatgtga	11	7	0	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:20215121A>C	ENST00000418063.2	+	2	189	c.77A>C	c.(76-78)cAg>cCg	p.Q26P	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	26	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACTGCACAGCAGAATTTATAT	0.413													False	0	False	19:20215121	0	C	20215121	A	C	20215121	3	2	108	1	0	0	0	0	1	0	0	0	18281	188	7	4	83	4	ZNF90	19	20215121	Missense_Mutation	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08	15995527	20215121	38913862	66	30793											
ZNF99	7652	broad.mit.edu	37	chr19	22940990	22940990	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taagatgtgaagattgcttaAaagctttgccacattcttca	7	7	2	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:22940990A>C	ENST00000397104.3	-	5	1447	c.1448T>G	c.(1447-1449)tTt>tGt	p.F483C	ZNF99_ENST00000596209.1_Missense_Mutation_p.F574C					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGATTGCTTAAAAGCTTTGCC	0.368													False	0	True	19:22940990	0	C	22940990	A	C	22940990	3	2	108	1	0	0	0	0	1	0	0	0	18286	14	1	4	1676	4	ZNF99	19	22940990	Missense_Mutation	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08	2725869	22940990	36187993	67	30794											
ZNF254	9534	broad.mit.edu	37	chr19	24310056	24310056	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaggttttaatcgatcTtcaaatcttactacacataa	5	8	3	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:24310056T>C	ENST00000357002.4	+	4	1369	c.1254T>C	c.(1252-1254)tcT>tcC	p.S418S	ZNF254_ENST00000342944.6_Silent_p.S333S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	418					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTAATCGATCTTCAAATCTTA	0.348													False	0	False	19:24310056	0	C	24310056	T	C	24310056	2	2	108	1	0	0	0	0	0	0	0	1	17881	1596	56	4		4	ZNF254	19	24310056	Silent	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	1369066	24310056	34818927	68	30795											
FCGBP	8857	broad.mit.edu	37	chr19	40433627	40433627	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccacggggctactagctgtGacctttgaccccgagagatc	12	13	0	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:40433627G>A	ENST00000221347.6	-	2	649	c.642C>T	c.(640-642)gtC>gtT	p.V214V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	214	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TACTAGCTGTGACCTTTGACC	0.562													False	0	False	19:40433627	0	A	40433627	G	A	40433627	2	1	108	1	0	0	0	0	0	0	0	1	5818	1277	45	2		2	FCGBP	19	40433627	Silent	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	16123571	40433627	18695356	69	30796											
BLOC1S3	388552	broad.mit.edu	37	chr19	45682658	45682658	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctctgcgtcctcgtcggAggaggaggagctgtacctgg	17	11	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:45682658A>C	ENST00000433642.2	+	2	200	c.104A>C	c.(103-105)gAg>gCg	p.E35A	BLOC1S3_ENST00000587722.1_Missense_Mutation_p.E35A	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	35					cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding			ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TCCTCGTCGGAGGAGGAGGAG	0.761									Hermansky-Pudlak syndrome				False	0	True	19:45682658	0	C	45682658	A	C	45682658	3	2	108	1	0	0	0	0	1	0	0	0	1455	304	11	4	106	4	BLOC1S3	19	45682658	Missense_Mutation	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08	5249031	45682658	13446325	70	30797											
ZNF761	388561	broad.mit.edu	37	chr19	53959318	53959318	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catagacttcatactggagaGaaagcttacaagtgtaatga	9	6	1	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:53959318G>A	ENST00000454407.1	+	0	2010							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATACTGGAGAGAAAGCTTACA	0.428													False	0	True	19:53959318	0	A	53959318	G	A	53959318	1	1	108	0	1	0	0	0	0	0	0	0	18218	933	33	2		2	ZNF761	19	53959318	RNA	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	8276660	53959318	5169665	71	30798											
ZNF606	80095	broad.mit.edu	37	chr19	58490276	58490276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttatatggtttctctcccGtgtgagttctctgatgggca	11	8	2	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:58490276G>A	ENST00000341164.4	-	7	2392	c.1772C>T	c.(1771-1773)aCg>aTg	p.T591M	ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTCTCTCCCGTGTGAGTTCT	0.418													False	0	True	19:58490276	0	A	58490276	G	A	58490276	3	1	108	1	0	0	0	0	1	0	0	0	18115	1145	40	1	610	1	ZNF606	19	58490276	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	4530958	58490276	638707	72	30799											
CACNG2	10369	broad.mit.edu	37	chr22	37098459	37098459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaatgggtcataacttcctCgttctttttgctggtttcat	9	8	3	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr22:37098459C>T	ENST00000300105.6	-	1	1144	c.163G>A	c.(163-165)Gag>Aag	p.E55K		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	55					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						ATAACTTCCTCGTTCTTTTTG	0.517													False	0	False	22:37098459	0	T	37098459	C	T	37098459	3	4	108	1	0	0	0	0	1	0	0	0	2577	893	31	1	824	1	CACNG2	22	37098459	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08		37098459	14206107	73	30800											
LGALS1	3956	broad.mit.edu	37	chr22	38075643	38075643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaccaggccaacctgaccGtcaagctgccagatggatac	10	14	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr22:38075643G>A	ENST00000215909.5	+	4	390	c.295G>A	c.(295-297)Gtc>Atc	p.V99I	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	99	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CAACCTGACCGTCAAGCTGCC	0.567													False	0	False	22:38075643	0	A	38075643	G	A	38075643	3	1	108	1	0	0	0	0	1	0	0	0	8789	1145	40	1	309	1	LGALS1	22	38075643	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	977184	38075643	13228923	74	30801											
CXorf21	80231	broad.mit.edu	37	chrX	30577624	30577624	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaggagtgctaatttcagtAatttcagttgacatcaattg	8	6	3	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:30577624A>G	ENST00000378962.3	-	3	1171	c.849T>C	c.(847-849)atT>atC	p.I283I		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	283										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TAATTTCAGTAATTTCAGTTG	0.378													False	0	True	X:30577624	0	G	30577624	A	G	30577624	2	3	108	1	0	0	0	0	0	0	0	1	4126	358	13	4		4	CXorf21	23	30577624	Silent	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08		30577624	124692936	75	30802											
ATRX	546	broad.mit.edu	37	chrX	76937446	76937446	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacaatcttgtctcttccttGaactctttccaagcaacttg	4	12	3	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:76937446G>T	ENST00000373344.5	-	9	3516	c.3302C>A	c.(3301-3303)tCa>tAa	p.S1101*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1063*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1101					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCTCTTCCTTGAACTCTTTCC	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						False	0	False	X:76937446	0	T	76937446	G	T	76937446	4	4	108	1	0	0	0	0	0	1	0	0	1212	1294	45	3	4284	3	ATRX	23	76937446	Nonsense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	46359822	76937446	78333114	76	30803											
NAP1L3	4675	broad.mit.edu	37	chrX	92926869	92926869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatagtaatagattgattTcaggatgacattatcatgta	8	3	2	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:92926869T>C	ENST00000373079.3	-	1	1698	c.1435A>G	c.(1435-1437)Aaa>Gaa	p.K479E	NAP1L3_ENST00000475430.2_Missense_Mutation_p.K472E	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	479					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TAGATTGATTTCAGGATGACA	0.363													False	0	True	X:92926869	0	C	92926869	T	C	92926869	3	2	108	1	0	0	0	0	1	0	0	0	10225	1792	62	4	89	4	NAP1L3	23	92926869	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	15989423	92926869	62343691	77	30804											
MEGF6	1953	broad.mit.edu	37	chr1	3511972	3511972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcacggtccgggcctcCgtggtatacacctgcctgta	12	14	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:3511972C>T	ENST00000356575.4	-	3	532	c.306G>A	c.(304-306)acG>acA	p.T102T		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	102	EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCCGGGCCTCCGTGGTATACA	0.637													False	0	False	1:3511972	0	T	3511972	C	T	3511972	2	4	109	1	0	0	0	0	0	0	0	1	9529	639	23	1		1	MEGF6	1	3511972	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08		3511972	245738649	1	30805											
TIE1	7075	broad.mit.edu	37	chr1	43783580	43783580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatatcgctattgaatatgCcccctacgggaacctgctag	9	11	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:43783580C>T	ENST00000372476.3	+	17	2838	c.2759C>T	c.(2758-2760)gCc>gTc	p.A920V	TIE1_ENST00000433781.2_Missense_Mutation_p.A565V|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	920	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.A920V(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTGAATATGCCCCCTACGGG	0.527													False	0	True	1:43783580	0	T	43783580	C	T	43783580	3	4	109	1	0	0	0	0	1	0	0	0	15975	739	26	2	2825	2	TIE1	1	43783580	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	40271608	43783580	205467041	2	30806											
STIL	6491	broad.mit.edu	37	chr1	47748097	47748097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagagtcgtgatcatgtaTtggcatcttcccagaagata	9	9	2	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:47748097T>C	ENST00000360380.3	-	12	1531	c.1168A>G	c.(1168-1170)Ata>Gta	p.I390V	STIL_ENST00000337817.5_Missense_Mutation_p.I390V|STIL_ENST00000371877.3_Missense_Mutation_p.I390V|STIL_ENST00000243182.6_Missense_Mutation_p.I390V|STIL_ENST00000396221.2_Missense_Mutation_p.I390V	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	390					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGATCATGTATTGGCATCTTC	0.388													False	0	False	1:47748097	0	C	47748097	T	C	47748097	3	2	109	1	0	0	0	0	1	0	0	0	15364	1493	52	4	2726	4	STIL	1	47748097	Missense_Mutation	SNP	T	TCGA-IB-A7M4-01A-11D-A36O-08	3964517	47748097	201502524	3	30807											
ANKRD13C	81573	broad.mit.edu	37	chr1	70819981	70819981	+	Frame_Shift_Del	DEL	G	G	-													ccaatcctgcttctggtaaaGgtaccgccgagggcagccgc							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:70819981delG	ENST00000370944.4	-	1	424	c.111delC	c.(109-111)accfs	p.T37fs	ANKRD13C_ENST00000262346.6_Frame_Shift_Del_p.T37fs	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	37					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TTCTGGTAAAGGTACCGCCGA	0.602													False	2	True	1:70819981	0	-	70819981	G	-	70819981	7	5	109	1	0	1	0	1	0	0	0	0	643	987	35	0	1566	0	ANKRD13C	1	70819981	Frame_Shift_Del	DEL	G	TCGA-IB-A7M4-01A-11D-A36O-08	23071884	70819981	178430640	4	30808											
AGL	178	broad.mit.edu	37	chr1	100382219	100382219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccagattgatgggcccGgagactactgcaaagactat	10	9	0	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:100382219G>A	ENST00000294724.4	+	33	4891	c.4413G>A	c.(4411-4413)ccG>ccA	p.P1471P	AGL_ENST00000361302.3_Silent_p.P1455P|AGL_ENST00000370165.3_Silent_p.P1471P|AGL_ENST00000361915.3_Silent_p.P1471P|AGL_ENST00000370163.3_Silent_p.P1471P|AGL_ENST00000370161.2_Silent_p.P1455P|AGL_ENST00000361522.4_Silent_p.P1454P	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1471					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGATGGGCCCGGAGACTACTG	0.353													False	0	True	1:100382219	0	A	100382219	G	A	100382219	2	1	109	1	0	0	0	0	0	0	0	1	384	1103	39	1		1	AGL	1	100382219	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	29562238	100382219	148868402	5	30809											
IVL	3713	broad.mit.edu	37	chr1	152882593	152882593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaaacccagagcagcAgcttaagcaggagaaaacac	10	10	0	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:152882593A>G	ENST00000368764.3	+	2	384	c.320A>G	c.(319-321)cAg>cGg	p.Q107R	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	107					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGAGCAGCAGCTTAAGCAG	0.488													False	0	True	1:152882593	0	G	152882593	A	G	152882593	3	3	109	1	0	0	0	0	1	0	0	0	7979	188	7	4	322	4	IVL	1	152882593	Missense_Mutation	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	52500374	152882593	96368028	6	30810											
FCRL2	79368	broad.mit.edu	37	chr1	157736756	157736756	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaggtctcttctatagccatCaggtcctgaggaaagaaagc	11	9	3	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:157736756C>G	ENST00000361516.3	-	7	1216	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	FCRL2_ENST00000392274.3_Missense_Mutation_p.D390H|FCRL2_ENST00000469986.1_Missense_Mutation_p.D137H|FCRL2_ENST00000368181.4_Missense_Mutation_p.D106H	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	390					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTATAGCCATCAGGTCCTGAG	0.443													False	0	False	1:157736756	0	G	157736756	C	G	157736756	3	3	109	1	0	0	0	0	1	0	0	0	5835	826	29	5	382	5	FCRL2	1	157736756	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	4854163	157736756	91513865	7	30811											
KIFAP3	22920	broad.mit.edu	37	chr1	170015874	170015874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctgacaatgaatcacGgcggttctgtagatagtaca	9	8	2	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:170015874G>T	ENST00000367765.1	-	3	1679	c.178C>A	c.(178-180)Cgt>Agt	p.R60S	KIFAP3_ENST00000367767.1_Missense_Mutation_p.R56S|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000361580.2_Missense_Mutation_p.R100S	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	100					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATGAATCACGGCGGTTCTGT	0.363													False	0	False	1:170015874	0	T	170015874	G	T	170015874	3	4	109	1	0	0	0	0	1	0	0	0	8361	1116	39	3	2152	3	KIFAP3	1	170015874	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	12279118	170015874	79234747	8	30812											
PLXNA2	5362	broad.mit.edu	37	chr1	208390894	208390894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcccacaggccagcaggCggttctcagagtagtcaatg	13	12	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:208390894C>T	ENST00000367033.3	-	2	1131	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	125	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCCAGCAGGCGGTTCTCAGA	0.577													False	0	False	1:208390894	0	T	208390894	C	T	208390894	3	4	109	1	0	0	0	0	1	0	0	0	12189	768	27	1	5434	1	PLXNA2	1	208390894	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	38375020	208390894	40859727	9	30813											
LYST	1130	broad.mit.edu	37	chr1	235944227	235944227	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgatttgttcacatcGcaaaatttctttattaatat	3	7	3	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:235944227G>A	ENST00000389794.3	-	16	5326	c.5152C>T	c.(5152-5154)Cga>Tga	p.R1718*	LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1718					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTTCACATCGCAAAATTTCT	0.294													False	0	False	1:235944227	0	A	235944227	G	A	235944227	4	1	109	1	0	0	0	0	0	1	0	0	9191	1095	38	1	6405	1	LYST	1	235944227	Nonsense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	27553333	235944227	13306394	10	30814											
RYR2	6262	broad.mit.edu	37	chr1	237780691	237780691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaagctccaagacaatcaaCgtttccgatacaacgaagtc	6	12	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:237780691C>T	ENST00000366574.2	+	38	6138	c.5821C>T	c.(5821-5823)Cgt>Tgt	p.R1941C	RYR2_ENST00000542537.1_Missense_Mutation_p.R1925C|RYR2_ENST00000360064.6_Missense_Mutation_p.R1939C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1941	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGACAATCAACGTTTCCGATA	0.473													False	0	False	1:237780691	0	T	237780691	C	T	237780691	3	4	109	1	0	0	0	0	1	0	0	0	13848	536	19	1	5971	1	RYR2	1	237780691	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	1836464	237780691	11469930	11	30815											
KIF26B	55083	broad.mit.edu	37	chr1	245772663	245772663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaagctcataaacgaaCgcaaggaaaagaccggcgcc	9	12	3	1	rs115703444	by1000genomes	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:245772663C>T	ENST00000366518.4	+	5	708	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	KIF26B_ENST00000407071.2_Missense_Mutation_p.R583C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	583					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CATAAACGAACGCAAGGAAAA	0.567													False	0	True	1:245772663	0	T	245772663	C	T	245772663	3	4	109	1	0	0	0	0	1	0	0	0	8345	536	19	1	1777	1	KIF26B	1	245772663	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	7991972	245772663	3477958	12	30816											
OR14C36	127066	broad.mit.edu	37	chr1	248513002	248513002	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgaagagaattttttattCagaaaatgtgtaagaaaccc	7	5	1	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:248513002C>A	ENST00000317861.1	+	1	926	c.926C>A	c.(925-927)tCa>tAa	p.S309*		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATTTTTTATTCAGAAAATGTG	0.328													False	0	False	1:248513002	0	A	248513002	C	A	248513002	4	1	109	1	0	0	0	0	0	1	0	0	11014	838	29	3	928	3	OR14C36	1	248513002	Nonsense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	2740339	248513002	737619	13	30817											
CIAO1	9391	broad.mit.edu	37	chr2	96933201	96933201	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaagaagaaccaggatgaCtttgaggtacccaggctggt	14	7	0	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:96933201C>G	ENST00000488633.1	+	2	501	c.282C>G	c.(280-282)gaC>gaG	p.D94E	CIAO1_ENST00000469320.1_3'UTR	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	94					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						ACCAGGATGACTTTGAGGTAC	0.572													False	0	True	2:96933201	0	G	96933201	C	G	96933201	3	3	109	1	0	0	0	0	1	0	0	0	3441	564	20	5	288	5	CIAO1	2	96933201	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08		96933201	146266172	14	30818											
CNTNAP5	129684	broad.mit.edu	37	chr2	125671709	125671709	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatcatcttctgtatcatCggcatcatgacccggttcct	6	13	6	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:125671709C>T	ENST00000431078.1	+	24	4129	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1255					cell adhesion|signal transduction	integral to membrane	receptor binding	p.I1255I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTGTATCATCGGCATCATGA	0.468													False	0	False	2:125671709	0	T	125671709	C	T	125671709	2	4	109	1	0	0	0	0	0	0	0	1	3673	874	31	1		1	CNTNAP5	2	125671709	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	28738508	125671709	117527664	15	30819											
MYO7B	4648	broad.mit.edu	37	chr2	128335762	128335762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggactacgcccacatcCgctcggccatgaagatcctc	8	17	0	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:128335762C>T	ENST00000389524.4	+	9	957	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	MYO7B_ENST00000409816.2_Missense_Mutation_p.R302C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R302C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	302	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGCCCACATCCGCTCGGCCAT	0.622													False	0	False	2:128335762	0	T	128335762	C	T	128335762	3	4	109	1	0	0	0	0	1	0	0	0	10150	652	23	1	934	1	MYO7B	2	128335762	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	2664053	128335762	114863611	16	30820											
SCN9A	6335	broad.mit.edu	37	chr2	167141148	167141148	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatgttactgctgcgtcGctcctggggtctgtggggca	16	10	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:167141148G>A	ENST00000303354.6	-	12	2132	c.1792C>T	c.(1792-1794)Cga>Tga	p.R598*	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.R597*|SCN9A_ENST00000375387.4_Nonsense_Mutation_p.R598*|SCN9A_ENST00000409435.1_Nonsense_Mutation_p.R597*			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	597						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTGCTGCGTCGCTCCTGGGGT	0.542													False	0	False	2:167141148	0	A	167141148	G	A	167141148	4	1	109	1	0	0	0	0	0	1	0	0	14006	1095	38	1	4208	1	SCN9A	2	167141148	Nonsense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	38805386	167141148	76058225	17	30821											
ITGA6	0	broad.mit.edu	37	chr2	173356152	173356152	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattcactgtctccaaacaGgaatattccaaactgaacta	5	11	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:173356152G>A	ENST00000375221.2	+	24	3209		c.e24-1		ITGA6_ENST00000409532.1_Splice_Site|ITGA6_ENST00000343713.4_Splice_Site|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409080.1_Splice_Site|ITGA6_ENST00000264107.7_Splice_Site|ITGA6_ENST00000264106.6_Splice_Site			P23229	ITA6_HUMAN	integrin, alpha 6						blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	p.?(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTCCAAACAGGAATATTCCA	0.463													False	0	False	2:173356152	0	A	173356152	G	A	173356152	5	1	109	1	0	0	0	0	0	0	1	0	7930	1014	35	2	2979	2	ITGA6	2	173356152	Splice_Site	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	6215004	173356152	69843221	18	30822											
WIPF1	7456	broad.mit.edu	37	chr2	175436585	175436585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcagaggaggcggcccGggcctgctgggaggtggcgg	24	9	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:175436585G>A	ENST00000392547.2	-	5	1047	c.948C>T	c.(946-948)ccC>ccT	p.P316P	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Silent_p.P316P|WIPF1_ENST00000359761.3_Silent_p.P316P|WIPF1_ENST00000272746.5_Silent_p.P316P|WIPF1_ENST00000409415.3_Silent_p.P316P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Silent_p.P316P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	316	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GAGGCGGCCCGGGCCTGCTGG	0.662													False	0	True	2:175436585	0	A	175436585	G	A	175436585	2	1	109	1	0	0	0	0	0	0	0	1	17451	1103	39	1		1	WIPF1	2	175436585	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	2080433	175436585	67762788	19	30823											
HOXD1	3231	broad.mit.edu	37	chr2	177054576	177054576	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgctagcccctccagcgcGatccgcacgaatttcagcac	9	18	1	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:177054576G>A	ENST00000331462.4	+	2	916	c.693G>A	c.(691-693)gcG>gcA	p.A231A		NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	231						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CCTCCAGCGCGATCCGCACGA	0.557													False	0	False	2:177054576	0	A	177054576	G	A	177054576	2	1	109	1	0	0	0	0	0	0	0	1	7365	1045	37	1		1	HOXD1	2	177054576	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	1617991	177054576	66144797	20	30824											
RPL15	6138	broad.mit.edu	37	chr3	23960714	23960715	+	Frame_Shift_Ins	INS	-	-	T													tggacgccactgtggggctcINStgagagtcctgaattcttac							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:23960714_23960715insT	ENST00000307839.5	+	4	976_977	c.337_338insT	c.(337-339)ctgfs	p.L113fs	RPL15_ENST00000435882.1_Frame_Shift_Ins_p.L113fs|RPL15_ENST00000456530.2_Frame_Shift_Ins_p.L113fs|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000413699.1_Frame_Shift_Ins_p.L113fs|RPL15_ENST00000354811.5_Frame_Shift_Ins_p.L113fs|RPL15_ENST00000415719.1_Frame_Shift_Ins_p.L113fs	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	113					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						CTGTGGGGCTCTGAGAGTCCTG	0.421													False	1	False	3:23960714	0	T	23960715	-	T	23960714	7	5	109	1	0	1	1	0	0	0	0	0	13641	912	32	0	347	0	RPL15	3	23960714	Frame_Shift_Ins	INS	-	TCGA-IB-A7M4-01A-11D-A36O-08		23960714	174061716	21	30825											
RPL14	9045	broad.mit.edu	37	chr3	40503613	40503613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcccagaaggttcctGcccagaaagccacaggccag	10	16	0	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:40503613G>A	ENST00000396203.2	+	6	670	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	RPL14_ENST00000338970.6_Missense_Mutation_p.A180T|RPL14_ENST00000416518.1_3'UTR	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	180	4 X 5 AA tandem repeats of Q-K-A-[PAS]-X.				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAAGGTTCCTGCCCAGAAAGC	0.552													False	0	True	3:40503613	0	A	40503613	G	A	40503613	3	1	109	1	0	0	0	0	1	0	0	0	13640	1319	46	2	567	2	RPL14	3	40503613	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	16542899	40503613	157518817	22	30826											
IQCB1	9657	broad.mit.edu	37	chr3	121526279	121526279	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagtaaatgtaagaaatgatCactttgtagtactaaaggaa	8	4	1	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:121526279C>A	ENST00000310864.6	-	7	713	c.499G>T	c.(499-501)Gat>Tat	p.D167Y	IQCB1_ENST00000349820.6_Missense_Mutation_p.D167Y	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	167					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		AAGAAATGATCACTTTGTAGT	0.308													False	0	False	3:121526279	0	A	121526279	C	A	121526279	3	1	109	1	0	0	0	0	1	0	0	0	7853	826	29	3	1333	3	IQCB1	3	121526279	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	81022666	121526279	76496151	23	30827											
NPHP3	27031	broad.mit.edu	37	chr3	132407536	132407536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaagtgcttcaagttcaCgagcagtatatggatggtcc	11	8	2	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:132407536C>T	ENST00000337331.5	-	21	3169	c.3083G>A	c.(3082-3084)cGt>cAt	p.R1028H	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1028					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCAAGTTCACGAGCAGTATA	0.388													False	0	False	3:132407536	0	T	132407536	C	T	132407536	3	4	109	1	0	0	0	0	1	0	0	0	10648	536	19	1	937	1	NPHP3	3	132407536	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	10881257	132407536	65614894	24	30828											
EIF4G1	1981	broad.mit.edu	37	chr3	184043334	184043334	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accagatccataaggaggctGagatggaagaacatcgagag	13	7	0	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:184043334G>A	ENST00000342981.4	+	19	3445	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K	EIF4G1_ENST00000424196.1_Missense_Mutation_p.E1017K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E814K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E923K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1017K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E847K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1017K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E924K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E815K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1010K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E970K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E846K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E971K|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E1010K|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1010	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TAAGGAGGCTGAGATGGAAGA	0.577													False	0	False	3:184043334	0	A	184043334	G	A	184043334	3	1	109	1	0	0	0	0	1	0	0	0	5068	1291	45	2	3098	2	EIF4G1	3	184043334	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	51635798	184043334	13979096	25	30829											
RGS12	6002	broad.mit.edu	37	chr4	3319755	3319755	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttggtccccatcgaaatgttCgaaagactaaggaagataaa	9	7	0	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:3319755C>A	ENST00000336727.3	+	2	2762	c.1858C>A	c.(1858-1860)Cga>Aga	p.R620R	RGS12_ENST00000344733.5_Silent_p.R620R|RGS12_ENST00000382788.3_Silent_p.R620R|RGS12_ENST00000543385.1_Silent_p.R620R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	620						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCGAAATGTTCGAAAGACTAA	0.582													False	0	False	4:3319755	0	A	3319755	C	A	3319755	2	1	109	1	0	0	0	0	0	0	0	1	13374	876	31	3		3	RGS12	4	3319755	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08		3319755	187834521	26	30830											
INTU	27152	broad.mit.edu	37	chr4	128626895	128626895	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcagcatcacctccgAcctttggcagactcaagcac	6	16	3	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:128626895A>G	ENST00000335251.6	+	11	1819	c.1716A>G	c.(1714-1716)cgA>cgG	p.R572R	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ATCACCTCCGACCTTTGGCAG	0.448													False	0	False	4:128626895	0	G	128626895	A	G	128626895	2	3	109	1	0	0	0	0	0	0	0	1	7836	262	10	4		4	INTU	4	128626895	Silent	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	125307140	128626895	62527381	27	30831											
PCDH10	57575	broad.mit.edu	37	chr4	134084224	134084224	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttttgtcccttctgatggaCgccaggctgctgattatcgc	10	12	1	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:134084224C>G	ENST00000264360.5	+	4	3716	c.2890C>G	c.(2890-2892)Cgc>Ggc	p.R964G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTCTGATGGACGCCAGGCTGC	0.522													False	0	False	4:134084224	0	G	134084224	C	G	134084224	3	3	109	1	0	0	0	0	1	0	0	0	11575	536	19	5	2964	5	PCDH10	4	134084224	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	5457329	134084224	57070052	28	30832											
LRBA	987	broad.mit.edu	37	chr4	151199141	151199141	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggtactgcccatctcGgctcagctggatggcctgtg	14	12	2	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:151199141G>A	ENST00000535741.1	-	56	8805	c.8332C>T	c.(8332-8334)Cga>Tga	p.R2778*	LRBA_ENST00000510413.1_Nonsense_Mutation_p.R2777*|LRBA_ENST00000357115.3_Nonsense_Mutation_p.R2789*|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2789						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCCCATCTCGGCTCAGCTGG	0.547													False	0	False	4:151199141	0	A	151199141	G	A	151199141	4	1	109	1	0	0	0	0	0	1	0	0	8993	1124	39	1	234	1	LRBA	4	151199141	Nonsense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	17114917	151199141	39955135	29	30833											
CCDC125	202243	broad.mit.edu	37	chr5	68606995	68606995	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttacctctgagttgtctttGagatgcctcaagttcagttt	8	8	4	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:68606995G>C	ENST00000396496.2	-	4	510	c.403C>G	c.(403-405)Caa>Gaa	p.Q135E	CCDC125_ENST00000511257.1_Missense_Mutation_p.Q10E|CCDC125_ENST00000383374.2_Missense_Mutation_p.Q134E|CCDC125_ENST00000396499.1_Missense_Mutation_p.Q135E|CCDC125_ENST00000460090.1_Intron			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	135						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AGTTGTCTTTGAGATGCCTCA	0.333													False	0	True	5:68606995	0	C	68606995	G	C	68606995	3	2	109	1	0	0	0	0	1	0	0	0	2781	1299	45	5	1168	5	CCDC125	5	68606995	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		68606995	112308265	30	30834											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	109	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-IB-A7M4-01A-11D-A36O-08	10003449	78610444	102304816	31	30835											
RASGRF2	5924	broad.mit.edu	37	chr5	80376464	80376464	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacatttatcaagaattTgtgcgtaatcaccagtacag	7	8	2	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:80376464T>G	ENST00000265080.4	+	7	1084	c.1017T>G	c.(1015-1017)ttT>ttG	p.F339L	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	339	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCAAGAATTTGTGCGTAATC	0.403													False	0	True	5:80376464	0	G	80376464	T	G	80376464	3	3	109	1	0	0	0	0	1	0	0	0	13152	1809	63	4	1043	4	RASGRF2	5	80376464	Missense_Mutation	SNP	T	TCGA-IB-A7M4-01A-11D-A36O-08	1766020	80376464	100538796	32	30836											
ACOT12	134526	broad.mit.edu	37	chr5	80640798	80640798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagcactgttgatgtgaCgccctcggccctcggcccat	11	14	0	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:80640798C>T	ENST00000307624.3	-	8	864	c.836G>A	c.(835-837)cGt>cAt	p.R279H		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	279	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GTTGATGTGACGCCCTCGGCC	0.493													False	0	False	5:80640798	0	T	80640798	C	T	80640798	3	4	109	1	0	0	0	0	1	0	0	0	150	536	19	1	863	1	ACOT12	5	80640798	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	264334	80640798	100274462	33	30837											
SEMA6A	57556	broad.mit.edu	37	chr5	115782948	115782948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccctgctgcgtgatgggCaggaccaccacgctggggat	15	12	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:115782948C>T	ENST00000343348.6	-	19	3241	c.2454G>A	c.(2452-2454)ctG>ctA	p.L818L	SEMA6A_ENST00000257414.8_Silent_p.L835L|SEMA6A_ENST00000503865.1_Silent_p.L197L|SEMA6A_ENST00000282394.6_Silent_p.L295L|SEMA6A_ENST00000513137.1_Silent_p.L245L|SEMA6A_ENST00000510263.1_Silent_p.L818L	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	818	Pro-rich.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GCGTGATGGGCAGGACCACCA	0.662													False	0	True	5:115782948	0	T	115782948	C	T	115782948	2	4	109	1	0	0	0	0	0	0	0	1	14120	697	25	2		2	SEMA6A	5	115782948	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	35142150	115782948	65132312	34	30838											
DMXL1	1657	broad.mit.edu	37	chr5	118506551	118506551	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttttaaatccatcagaagAtataattgcagttcagttaa	5	7	2	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:118506551A>C	ENST00000311085.8	+	24	6145	c.6065A>C	c.(6064-6066)gAt>gCt	p.D2022A	DMXL1_ENST00000539542.1_Missense_Mutation_p.D2022A	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2022										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCATCAGAAGATATAATTGCA	0.313													False	0	False	5:118506551	0	C	118506551	A	C	118506551	3	2	109	1	0	0	0	0	1	0	0	0	4624	333	12	4	6159	4	DMXL1	5	118506551	Missense_Mutation	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	2723603	118506551	62408709	35	30839											
FTMT	94033	broad.mit.edu	37	chr5	121188177	121188177	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagaacgtgaaccagtcGttgctggaattgcacgctct	11	9	1	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:121188177G>A	ENST00000321339.1	+	1	528	c.519G>A	c.(517-519)tcG>tcA	p.S173S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	173	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGAACCAGTCGTTGCTGGAAT	0.517													False	0	False	5:121188177	0	A	121188177	G	A	121188177	2	1	109	1	0	0	0	0	0	0	0	1	6127	1132	40	1		1	FTMT	5	121188177	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	2681626	121188177	59727083	36	30840											
LOX	4015	broad.mit.edu	37	chr5	121409724	121409724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacctgtgtgtgtgcagtaCatgcaaatcgcctgtggtag	12	8	0	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:121409724C>T	ENST00000231004.4	-	4	1318	c.1019G>A	c.(1018-1020)tGt>tAt	p.C340Y	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	340	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GTGTGCAGTACATGCAAATCG	0.478													False	0	False	5:121409724	0	T	121409724	C	T	121409724	3	4	109	1	0	0	0	0	1	0	0	0	8960	478	17	2	250	2	LOX	5	121409724	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	221547	121409724	59505536	37	30841											
PCDHGA2	0	broad.mit.edu	37	chr5	140720214	140720214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaccagaacgacaacgCgcccgagatcctgtaccctg	11	15	0	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:140720214C>T	ENST00000394576.2	+	1	1676	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAACGCGCCCGAGATC	0.622													False	0	False	5:140720214	0	T	140720214	C	T	140720214	3	4	109	1	0	0	0	0	1	0	0	0	11622	768	27	1	1678	1	PCDHGA2	5	140720214	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	19310490	140720214	40195046	38	30842											
PHACTR1	221692	broad.mit.edu	37	chr6	13273094	13273094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggattttttccgtaggcGgctgagccagaggccaactg	13	11	0	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:13273094G>A	ENST00000379350.1	+	10	1523	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	PHACTR1_ENST00000379329.1_Missense_Mutation_p.R29Q|PHACTR1_ENST00000379335.3_Missense_Mutation_p.R29Q|PHACTR1_ENST00000332995.7_Missense_Mutation_p.R465Q|RP1-257A7.4_ENST00000606627.1_RNA|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R320Q			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	465						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TTCCGTAGGCGGCTGAGCCAG	0.483													False	0	False	6:13273094	0	A	13273094	G	A	13273094	3	1	109	1	0	0	0	0	1	0	0	0	11878	1116	39	1	1428	1	PHACTR1	6	13273094	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		13273094	157841973	39	30843											
CPNE5	57699	broad.mit.edu	37	chr6	36710085	36710085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacgcagggggcgtgcggGctggggactgcgagggcgag	25	8	0	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:36710085G>A	ENST00000244751.2	-	21	2366	c.1742C>T	c.(1741-1743)gCc>gTc	p.A581V	CPNE5_ENST00000393189.2_Missense_Mutation_p.A289V|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	581										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGGCGTGCGGGCTGGGGACTG	0.682													False	0	True	6:36710085	0	A	36710085	G	A	36710085	3	1	109	1	0	0	0	0	1	0	0	0	3838	1203	42	2	43	2	CPNE5	6	36710085	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	23436991	36710085	134404982	40	30844											
KLHDC3	116138	broad.mit.edu	37	chr6	42985680	42985680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctaggcaagatcatgTacatttttgggggctacgag	13	7	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:42985680T>C	ENST00000326974.4	+	4	616	c.421T>C	c.(421-423)Tac>Cac	p.Y141H	KLHDC3_ENST00000332245.8_Missense_Mutation_p.Y82H|KLHDC3_ENST00000244670.8_Intron	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	141					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAAGATCATGTACATTTTTGG	0.512													False	0	False	6:42985680	0	C	42985680	T	C	42985680	3	2	109	1	0	0	0	0	1	0	0	0	8407	1638	57	4	431	4	KLHDC3	6	42985680	Missense_Mutation	SNP	T	TCGA-IB-A7M4-01A-11D-A36O-08	6275595	42985680	128129387	41	30845											
DST	667	broad.mit.edu	37	chr6	56325048	56325048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcttccttgtattggcGttccctgtatttaaccagca	8	11	0	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:56325048G>A	ENST00000370754.5	-	101	22870	c.22871C>T	c.(22870-22872)aCg>aTg	p.T7624M	DST_ENST00000446842.2_Missense_Mutation_p.T7120M|DST_ENST00000421834.2_Missense_Mutation_p.T5331M|DST_ENST00000370788.2_Missense_Mutation_p.T5249M|DST_ENST00000370769.4_Missense_Mutation_p.T7446M|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.T7335M|DST_ENST00000244364.6_Missense_Mutation_p.T5045M			Q03001	DYST_HUMAN	dystonin	7444					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGTATTGGCGTTCCCTGTAT	0.443													False	0	False	6:56325048	0	A	56325048	G	A	56325048	3	1	109	1	0	0	0	0	1	0	0	0	4813	1145	40	1	389	1	DST	6	56325048	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	13339368	56325048	114790019	42	30846											
KCNQ5	56479	broad.mit.edu	37	chr6	73904417	73904417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgcagttcattctgacGccaaatgagttcagtgccca	10	12	3	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:73904417G>A	ENST00000342056.2	+	15	2534	c.2136G>A	c.(2134-2136)acG>acA	p.T712T	KCNQ5_ENST00000402622.2_Silent_p.T703T|KCNQ5_ENST00000370398.1_Silent_p.T693T|KCNQ5_ENST00000403813.2_Silent_p.T684T|KCNQ5_ENST00000414165.2_Silent_p.T583T|KCNQ5_ENST00000355635.3_Silent_p.T694T|KCNQ5_ENST00000355194.4_Silent_p.T693T	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	693					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TCATTCTGACGCCAAATGAGT	0.502													False	0	False	6:73904417	0	A	73904417	G	A	73904417	2	1	109	1	0	0	0	0	0	0	0	1	8136	1074	38	1		1	KCNQ5	6	73904417	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	17579369	73904417	97210650	43	30847											
PEX3	8504	broad.mit.edu	37	chr6	143806383	143806383	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacacctagtcattttgttCaggtaagaagaaagcttggg	10	6	2	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:143806383C>A	ENST00000367591.4	+	11	1099	c.1036C>A	c.(1036-1038)Cag>Aag	p.Q346K	RP1-20N2.6_ENST00000591892.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	346					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TCATTTTGTTCAGGTAAGAAG	0.373													False	0	False	6:143806383	0	A	143806383	C	A	143806383	3	1	109	1	0	0	0	0	1	0	0	0	11816	827	29	3	1078	3	PEX3	6	143806383	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	69901966	143806383	27308684	44	30848											
AKAP12	9590	broad.mit.edu	37	chr6	151669981	151669981	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcgaacagattccttcttCagaaagcaatttagaagagc	7	8	2	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:151669981C>T	ENST00000402676.2	+	4	695	c.455C>T	c.(454-456)tCa>tTa	p.S152L	AKAP12_ENST00000354675.6_Missense_Mutation_p.S54L|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000359755.5_Missense_Mutation_p.S47L|AKAP12_ENST00000253332.1_Missense_Mutation_p.S152L	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	152					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ATTCCTTCTTCAGAAAGCAAT	0.423													False	0	False	6:151669981	0	T	151669981	C	T	151669981	3	4	109	1	0	0	0	0	1	0	0	0	448	838	29	2	494	2	AKAP12	6	151669981	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	7863598	151669981	19445086	45	30849											
ELMO1	9844	broad.mit.edu	37	chr7	37311484	37311484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccattttttatctcattgcGgttctggaaaagaagaaaaa	8	6	2	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr7:37311484G>A	ENST00000310758.4	-	5	843	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	ELMO1_ENST00000442504.1_Missense_Mutation_p.R66C|ELMO1_ENST00000448602.1_Missense_Mutation_p.R66C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	66					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.R66C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATCTCATTGCGGTTCTGGAAA	0.363													False	0	False	7:37311484	0	A	37311484	G	A	37311484	3	1	109	1	0	0	0	0	1	0	0	0	5097	1116	39	1	2059	1	ELMO1	7	37311484	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		37311484	121827179	46	30850											
CUL1	8454	broad.mit.edu	37	chr7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagtgcaagtgacgatgccGaagccagcatgatctccaag	11	11	1	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000409469.1_Missense_Mutation_p.E485K|CUL1_ENST00000602748.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458													False	0	False	7:148484186	0	A	148484186	G	A	148484186	3	1	109	1	0	0	0	0	1	0	0	0	4079	1059	37	1	1499	1	CUL1	7	148484186	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	111172702	148484186	10654477	47	30851											
BMP1	649	broad.mit.edu	37	chr8	22037971	22037971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacatgcactgcgtgtggcGcatctctgtcacacccgggg	12	14	3	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:22037971G>A	ENST00000306385.5	+	8	1722	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.R351H|BMP1_ENST00000397814.3_Missense_Mutation_p.R351H|BMP1_ENST00000306349.8_Missense_Mutation_p.R351H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	351	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGCGTGTGGCGCATCTCTGTC	0.612													False	0	False	8:22037971	0	A	22037971	G	A	22037971	3	1	109	1	0	0	0	0	1	0	0	0	1461	1087	38	1	1082	1	BMP1	8	22037971	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		22037971	124326051	48	30852											
ADAM2	2515	broad.mit.edu	37	chr8	39626980	39626980	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccacacactgcttgctgtttGaaaaaaggatctaagcgagg	10	9	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:39626980G>C	ENST00000265708.4	-	12	1246	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	ADAM2_ENST00000379853.2_Missense_Mutation_p.F255L|ADAM2_ENST00000347580.4_Missense_Mutation_p.F362L|ADAM2_ENST00000521880.1_Missense_Mutation_p.F381L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	381					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTGCTGTTTGAAAAAAGGAT	0.443													False	0	True	8:39626980	0	C	39626980	G	C	39626980	3	2	109	1	0	0	0	0	1	0	0	0	241	1281	45	5	1100	5	ADAM2	8	39626980	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	17589009	39626980	106737042	49	30853											
PRKDC	5591	broad.mit.edu	37	chr8	48790343	48790343	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccatgacatgctgctgttCccgacaaagaacttctgtca	7	12	2	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:48790343C>A	ENST00000314191.2	-	41	5358	c.5302G>T	c.(5302-5304)Gaa>Taa	p.E1768*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E1768*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1769					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGCTGCTGTTCCCGACAAAGA	0.383								Non-homologous end-joining					False	0	True	8:48790343	0	A	48790343	C	A	48790343	4	1	109	1	0	0	0	0	0	1	0	0	12597	864	30	3	7269	3	PRKDC	8	48790343	Nonsense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	9163363	48790343	97573679	50	30854											
SLCO5A1	81796	broad.mit.edu	37	chr8	70591817	70591817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtggagtgatcacttggCgactttggacacaggtgcat	15	7	1	1	rs151145765	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:70591817C>T	ENST00000260126.4	-	8	2526	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R552H|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R607H	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GATCACTTGGCGACTTTGGAC	0.453													False	0	False	8:70591817	0	T	70591817	C	T	70591817	3	4	109	1	0	0	0	0	1	0	0	0	14811	768	27	1	738	1	SLCO5A1	8	70591817	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	21801474	70591817	75772205	51	30855											
STK3	6788	broad.mit.edu	37	chr8	99468195	99468195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtccagtgcttttaaccGcatctgtagttcttctaaac	9	10	3	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:99468195G>A	ENST00000523601.1	-	13	1834	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	STK3_ENST00000419617.2_Missense_Mutation_p.R451W	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	451	SARAH.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GCTTTTAACCGCATCTGTAGT	0.383													False	0	False	8:99468195	0	A	99468195	G	A	99468195	3	1	109	1	0	0	0	0	1	0	0	0	15377	1086	38	1	128	1	STK3	8	99468195	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	28876378	99468195	46895827	52	30856											
CSMD3	114788	broad.mit.edu	37	chr8	113349048	113349048	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcattgcagttatattcccAccacaaagagctacggaaaa	6	10	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:113349048A>T	ENST00000297405.5	-	44	7096	c.6852T>A	c.(6850-6852)ggT>ggA	p.G2284G	CSMD3_ENST00000455883.2_Silent_p.G2180G|CSMD3_ENST00000343508.3_Silent_p.G2244G|CSMD3_ENST00000352409.3_Silent_p.G2214G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2284	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATATTCCCACCACAAAGAG	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	True	8:113349048	0	T	113349048	A	T	113349048	2	4	109	1	0	0	0	0	0	0	0	1	3971	146	6	5		5	CSMD3	8	113349048	Silent	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	13880853	113349048	33014974	53	30857											
SCRIB	23513	broad.mit.edu	37	chr8	144891159	144891159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgatctccctgtcatcccCgggcagcagtgcgtcctctg	10	17	3	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:144891159C>T	ENST00000356994.2	-	15	1741	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	SCRIB_ENST00000377533.3_Missense_Mutation_p.G498R|SCRIB_ENST00000320476.3_Missense_Mutation_p.G579R	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	579	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTGTCATCCCCGGGCAGCAGT	0.642													False	0	True	8:144891159	0	T	144891159	C	T	144891159	3	4	109	1	0	0	0	0	1	0	0	0	14018	652	23	1	3324	1	SCRIB	8	144891159	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	31542111	144891159	1472863	54	30858											
PLEC	5339	broad.mit.edu	37	chr8	144991972	144991972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgacggcgcgctcggccGacagcagcttgtccttgaac	13	14	0	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:144991972G>A	ENST00000322810.4	-	32	12597	c.12428C>T	c.(12427-12429)tCg>tTg	p.S4143L	PLEC_ENST00000398774.2_Missense_Mutation_p.S3974L|PLEC_ENST00000527096.1_Missense_Mutation_p.S4029L|PLEC_ENST00000345136.3_Missense_Mutation_p.S4006L|PLEC_ENST00000354589.3_Missense_Mutation_p.S4006L|PLEC_ENST00000436759.2_Missense_Mutation_p.S4033L|PLEC_ENST00000354958.2_Missense_Mutation_p.S3984L|PLEC_ENST00000356346.3_Missense_Mutation_p.S3992L|PLEC_ENST00000357649.2_Missense_Mutation_p.S4010L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4143	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCTCGGCCGACAGCAGCTT	0.607													False	0	False	8:144991972	0	A	144991972	G	A	144991972	3	1	109	1	0	0	0	0	1	0	0	0	12121	1059	37	1	1630	1	PLEC	8	144991972	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	100813	144991972	1372050	55	30859											
PRUNE2	158471	broad.mit.edu	37	chr9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatcactggggattgccGcacccccactgcagtcatcc	9	17	2	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:79323756G>A	ENST00000428286.1	-	8	3557	c.2357C>T	c.(2356-2358)gCg>gTg	p.A786V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1145V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1145					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGGATTGCCGCACCCCCACT	0.522													False	0	False	9:79323756	0	A	79323756	G	A	79323756	3	1	109	1	0	0	0	0	1	0	0	0	12717	1087	38	1	5880	1	PRUNE2	9	79323756	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		79323756	61889675	56	30860											
PTPDC1	138639	broad.mit.edu	37	chr9	96847575	96847575	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtacacaaaagtaggggAgcgtttacggcatgtcattc	11	7	1	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:96847575A>G	ENST00000375360.3	+	3	465	c.125A>G	c.(124-126)gAg>gGg	p.E42G	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E94G	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	42							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAAGTAGGGGAGCGTTTACGG	0.453													False	0	True	9:96847575	0	G	96847575	A	G	96847575	3	3	109	1	0	0	0	0	1	0	0	0	12850	304	11	4	373	4	PTPDC1	9	96847575	Missense_Mutation	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	17523819	96847575	44365856	57	30861											
DBH	1621	broad.mit.edu	37	chr9	136508616	136508616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcccccgagatggacagcGtcccccacttcagcgggccc	12	19	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:136508616G>A	ENST00000393056.2	+	4	838	c.826G>A	c.(826-828)Gtc>Atc	p.V276I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	276					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	p.V276I(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GATGGACAGCGTCCCCCACTT	0.657													False	0	False	9:136508616	0	A	136508616	G	A	136508616	3	1	109	1	0	0	0	0	1	0	0	0	4275	1145	40	1	840	1	DBH	9	136508616	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	39661041	136508616	4704815	58	30862											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486218	37486218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttttagagcctcccgAgaagccatctgccttcgagg	10	12	1	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:37486218A>G	ENST00000374660.1	+	34	2912	c.2813A>G	c.(2812-2814)gAg>gGg	p.E938G	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E819G|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E819G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	993						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGCCTCCCGAGAAGCCATCT	0.328													False	0	False	10:37486218	0	G	37486218	A	G	37486218	3	3	109	1	0	0	0	0	1	0	0	0	658	304	11	4	2566	4	ANKRD30A	10	37486218	Missense_Mutation	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08		37486218	98048529	59	30863											
VDAC2	7417	broad.mit.edu	37	chr10	76979095	76979095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaactgacatttgatactAccttctcaccaaacacaggg	6	11	1	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:76979095A>G	ENST00000535553.1	+	7	576	c.220A>G	c.(220-222)Acc>Gcc	p.T74A	VDAC2_ENST00000313132.4_Missense_Mutation_p.T128A|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000332211.6_Missense_Mutation_p.T113A|VDAC2_ENST00000543351.1_Missense_Mutation_p.T113A			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	113						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	ATTTGATACTACCTTCTCACC	0.239													False	0	False	10:76979095	0	G	76979095	A	G	76979095	3	3	109	1	0	0	0	0	1	0	0	0	17231	391	14	4	435	4	VDAC2	10	76979095	Missense_Mutation	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	39492877	76979095	58555652	60	30864											
NEURL	0	broad.mit.edu	37	chr10	105349367	105349367	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcagccgcctgtctgAccccttgctcagcacgtgca	11	17	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:105349367A>C	ENST00000369780.4	+	5	1845	c.1436A>C	c.(1435-1437)gAc>gCc	p.D479A	SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Missense_Mutation_p.D462A	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		479					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CGCCTGTCTGACCCCTTGCTC	0.647													False	0	True	10:105349367	0	C	105349367	A	C	105349367	3	2	109	1	0	0	0	0	1	0	0	0	10413	275	10	4	1454	4	NEURL	10	105349367	Missense_Mutation	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	28370272	105349367	30185380	61	30865											
MUC2	4583	broad.mit.edu	37	chr11	1096405	1096405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagggcaactgcacctacGtgctggtggaggagatcagc	14	11	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:1096405G>A	ENST00000441003.2	+	34	6457	c.6430G>A	c.(6430-6432)Gtg>Atg	p.V2144M	MUC2_ENST00000361558.6_Missense_Mutation_p.V282M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4506						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGCACCTACGTGCTGGTGGA	0.602													False	0	False	11:1096405	0	A	1096405	G	A	1096405	3	1	109	1	0	0	0	0	1	0	0	0	10042	1145	40	1	6556	1	MUC2	11	1096405	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		1096405	133910111	62	30866											
MICAL2	9645	broad.mit.edu	37	chr11	12247727	12247727	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgattctctagcaactttgaCtctttgaatgaagatgatgc	8	7	2	6			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:12247727C>G	ENST00000256194.4	+	14	1986	c.1698C>G	c.(1696-1698)gaC>gaG	p.D566E	MICAL2_ENST00000342902.5_Missense_Mutation_p.D566E|MICAL2_ENST00000527546.1_Missense_Mutation_p.D566E|MICAL2_ENST00000379612.3_Missense_Mutation_p.D566E|MICAL2_ENST00000537344.1_Missense_Mutation_p.D566E	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	566	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCAACTTTGACTCTTTGAATG	0.517													False	0	False	11:12247727	0	G	12247727	C	G	12247727	3	3	109	1	0	0	0	0	1	0	0	0	9637	564	20	5	1744	5	MICAL2	11	12247727	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	11151322	12247727	122758789	63	30867											
OR5B17	219965	broad.mit.edu	37	chr11	58126293	58126293	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggctttgtcttctataaGcaacccagttaaaacctttg	7	9	2	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:58126293G>T	ENST00000357377.3	-	1	249	c.250C>A	c.(250-252)Ctt>Att	p.L84I		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTTCTATAAGCAACCCAGTT	0.458													False	0	False	11:58126293	0	T	58126293	G	T	58126293	3	4	109	1	0	0	0	0	1	0	0	0	11217	971	34	3	696	3	OR5B17	11	58126293	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	45878566	58126293	76880223	64	30868											
CCDC87	55231	broad.mit.edu	37	chr11	66358359	66358359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggcagctgcctcaggcGggctttggagctatatttaa	13	8	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:66358359G>A	ENST00000333861.3	-	1	2195	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	710										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGCCTCAGGCGGGCTTTGGAG	0.557													False	0	True	11:66358359	0	A	66358359	G	A	66358359	3	1	109	1	0	0	0	0	1	0	0	0	2883	1116	39	1	425	1	CCDC87	11	66358359	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	8232066	66358359	68648157	65	30869											
ARHGAP20	57569	broad.mit.edu	37	chr11	110477352	110477352	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggcactgcatctctcggggGagctgttccataaggaaggg	15	9	1	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:110477352G>C	ENST00000260283.4	-	10	1181	c.897C>G	c.(895-897)ctC>ctG	p.L299L	ARHGAP20_ENST00000527598.1_Silent_p.L263L|ARHGAP20_ENST00000524756.1_Silent_p.L276L|ARHGAP20_ENST00000533353.1_Silent_p.L273L|ARHGAP20_ENST00000357139.3_Silent_p.L273L|ARHGAP20_ENST00000528829.1_Silent_p.L263L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	299					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCTCTCGGGGGAGCTGTTCCA	0.537													False	0	True	11:110477352	0	C	110477352	G	C	110477352	2	2	109	1	0	0	0	0	0	0	0	1	872	1161	41	5		5	ARHGAP20	11	110477352	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	44118993	110477352	24529164	66	30870											
IGSF9B	22997	broad.mit.edu	37	chr11	133807360	133807360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgtcctcccgactgaccGatgtcactgtcaggctgccg	10	16	3	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:133807360G>A	ENST00000321016.8	-	5	820	c.590C>T	c.(589-591)tCg>tTg	p.S197L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.S197L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	197	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGACTGACCGATGTCACTGT	0.607													False	0	False	11:133807360	0	A	133807360	G	A	133807360	3	1	109	1	0	0	0	0	1	0	0	0	7656	1059	37	1	3519	1	IGSF9B	11	133807360	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	23330008	133807360	1199156	67	30871											
ETV6	2120	broad.mit.edu	37	chr12	12037406	12037406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgctttgggattacgtctAtcagttgctttctgacagcc	9	10	3	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:12037406A>G	ENST00000396373.4	+	6	1311	c.1037A>G	c.(1036-1038)tAt>tGt	p.Y346C		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	346						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GATTACGTCTATCAGTTGCTT	0.438			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								False	0	False	12:12037406	0	G	12037406	A	G	12037406	3	3	109	1	0	0	0	0	1	0	0	0	5315	449	16	4	1059	4	ETV6	12	12037406	Missense_Mutation	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08		12037406	121814489	68	30872											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	109	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	13360878	25398284	108453611	69	30873											
OR6C6	283365	broad.mit.edu	37	chr12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaaaaaggagaaattaCggagaaagaaatacattggc	9	6	0	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:55688832C>T	ENST00000358433.2	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGAAATTACGGAGAAAGAA	0.388													False	0	False	12:55688832	0	T	55688832	C	T	55688832	3	4	109	1	0	0	0	0	1	0	0	0	11262	536	19	1	761	1	OR6C6	12	55688832	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	30290548	55688832	78163063	70	30874											
TMTC3	160418	broad.mit.edu	37	chr12	88568385	88568385	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttttctcttaaacagtGtatttaaaaagctatcctgg	5	7	1	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:88568385G>A	ENST00000266712.6	+	9	1421	c.1201G>A	c.(1201-1203)Gta>Ata	p.V401I		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	401						integral to membrane	binding	p.V401I(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CTTAAACAGTGTATTTAAAAA	0.318													False	0	False	12:88568385	0	A	88568385	G	A	88568385	5	1	109	1	0	0	0	0	0	0	1	0	16344	1391	48	2	1231	2	TMTC3	12	88568385	Splice_Site	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	32879553	88568385	45283510	71	30875											
PWP1	11137	broad.mit.edu	37	chr12	108091262	108091262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaaattacattgctgtagGaaacatgacccctgttattg	9	7	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:108091262G>A	ENST00000412830.3	+	7	800	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PWP1_ENST00000541166.1_Missense_Mutation_p.G149E	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	211					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						ATTGCTGTAGGAAACATGACC	0.348													False	0	True	12:108091262	0	A	108091262	G	A	108091262	3	1	109	1	0	0	0	0	1	0	0	0	12922	1174	41	2	658	2	PWP1	12	108091262	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	19522877	108091262	25760633	72	30876											
PITPNM2	57605	broad.mit.edu	37	chr12	123482085	123482085	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtagcagcacgtggatcttgGagggcggtgcagccagcggc	18	10	1	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:123482085G>T	ENST00000280562.5	-	10	1464	c.1259C>A	c.(1258-1260)tCc>tAc	p.S420Y	PITPNM2_ENST00000320201.4_Missense_Mutation_p.S420Y|PITPNM2_ENST00000542749.1_Missense_Mutation_p.S420Y|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S141Y			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	420					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGGATCTTGGAGGGCGGTGC	0.657													False	0	False	12:123482085	0	T	123482085	G	T	123482085	3	4	109	1	0	0	0	0	1	0	0	0	12020	1174	41	3	2854	3	PITPNM2	12	123482085	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	15390823	123482085	10369810	73	30877											
WASF3	10810	broad.mit.edu	37	chr13	27259854	27259854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaaaggtgcaggagcagCgggagcaggaggccaagcgg	19	7	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:27259854C>T	ENST00000361042.4	+	10	1597	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W	WASF3_ENST00000335327.5_Missense_Mutation_p.R461W			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	461					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCAGGAGCAGCGGGAGCAGGA	0.532													False	0	True	13:27259854	0	T	27259854	C	T	27259854	3	4	109	1	0	0	0	0	1	0	0	0	17338	759	27	1	1411	1	WASF3	13	27259854	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08		27259854	87910024	74	30878											
MTUS2	23281	broad.mit.edu	37	chr13	29600278	29600278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgttggagagaacaagacGgaggtgcctgagcccctgga	15	9	1	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:29600278G>A	ENST00000431530.3	+	1	1531	c.1473G>A	c.(1471-1473)acG>acA	p.T491T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	481						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGAACAAGACGGAGGTGCCTG	0.517													False	0	False	13:29600278	0	A	29600278	G	A	29600278	2	1	109	1	0	0	0	0	0	0	0	1	10033	1103	39	1		1	MTUS2	13	29600278	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	2340424	29600278	85569600	75	30879											
IRS2	8660	broad.mit.edu	37	chr13	110436560	110436560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaggacgcggggcaggacGggcagaggcggcccgcgctg	22	11	0	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:110436560G>A	ENST00000375856.3	-	1	2355	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	614					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGGGCAGGACGGGCAGAGGCG	0.697													False	0	True	13:110436560	0	A	110436560	G	A	110436560	3	1	109	1	0	0	0	0	1	0	0	0	7891	1116	39	1	2183	1	IRS2	13	110436560	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	80836282	110436560	4733318	76	30880											
MTHFD1	4522	broad.mit.edu	37	chr14	64854981	64854981	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccttccgaactgcgcatgCgccaccgcgtctgcaggggg	14	15	1	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr14:64854981C>T	ENST00000545908.1	+	1	233	c.4C>T	c.(4-6)Cgc>Tgc	p.R2C				P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	0	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.	Not acetylated.			folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ACTGCGCATGCGCCACCGCGT	0.627													False	0	False	14:64854981	0	T	64854981	C	T	64854981	3	4	109	1	0	0	0	0	1	0	0	0	9994	783	27	1		1	MTHFD1	14	64854981	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08		64854981	42494559	77	30881											
CSPG4	1464	broad.mit.edu	37	chr15	75977834	75977834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcctgaggccacatccagcGagaaggcatcgctccaggcc	13	15	0	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr15:75977834G>A	ENST00000308508.5	-	4	4090	c.3998C>T	c.(3997-3999)tCg>tTg	p.S1333L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1333	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CACATCCAGCGAGAAGGCATC	0.662													False	0	False	15:75977834	0	A	75977834	G	A	75977834	3	1	109	1	0	0	0	0	1	0	0	0	3985	1059	37	1	2998	1	CSPG4	15	75977834	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		75977834	26553558	78	30882											
TBL3	10607	broad.mit.edu	37	chr16	2024811	2024811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacatcgtgcggcactacGggacacaccacttccgaggc	13	14	0	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:2024811G>A	ENST00000568546.1	+	6	555	c.427G>A	c.(427-429)Ggg>Agg	p.G143R		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	143					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCGGCACTACGGGACACACCA	0.662													False	0	True	16:2024811	0	A	2024811	G	A	2024811	3	1	109	1	0	0	0	0	1	0	0	0	15725	1116	39	1	449	1	TBL3	16	2024811	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		2024811	88329942	79	30883											
PKD1	5310	broad.mit.edu	37	chr16	2161454	2161454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtccacgtgatgttgtcGcccgtctgcaccgcggcgct	13	14	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:2161454G>A	ENST00000262304.4	-	15	3922	c.3714C>T	c.(3712-3714)ggC>ggT	p.G1238G	PKD1_ENST00000423118.1_Silent_p.G1238G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1238	PKD 7.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGATGTTGTCGCCCGTCTGCA	0.672													False	0	True	16:2161454	0	A	2161454	G	A	2161454	2	1	109	1	0	0	0	0	0	0	0	1	12032	1074	38	1		1	PKD1	16	2161454	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	136643	2161454	88193299	80	30884											
TP53	7157	broad.mit.edu	37	chr17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgatgatggtgaggatgGgcctccggttcatgccgccc	16	10	1	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:7577532G>A	ENST00000420246.2	-	7	881	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000269305.4_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTGAGGATGGGCCTCCGGTT	0.577		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)			False	0	True	17:7577532	0	A	7577532	G	A	7577532	3	1	109	1	0	0	0	0	1	0	0	0	16464	1232	43	2	541	2	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		7577532	73617678	81	30885											
PER1	5187	broad.mit.edu	37	chr17	8049954	8049955	+	Frame_Shift_Ins	INS	-	-	T													gatctgctggtaggagcagcINStggaggcttctttcctctcg							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:8049954_8049955insT	ENST00000317276.4	-	15	2101_2102	c.1864_1865insA	c.(1864-1866)agcfs	p.S622fs	PER1_ENST00000354903.5_Frame_Shift_Ins_p.S606fs|PER1_ENST00000581082.1_Frame_Shift_Ins_p.S602fs	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	622	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTAGGAGCAGCTGGAGGCTTCT	0.639			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					False	1	False	17:8049954	0	T	8049955	-	T	8049954	7	5	109	1	0	1	1	0	0	0	0	0	11797	797	28	0	2043	0	PER1	17	8049954	Frame_Shift_Ins	INS	-	TCGA-IB-A7M4-01A-11D-A36O-08	472422	8049954	73145256	82	30886											
SMCR8	140775	broad.mit.edu	37	chr17	18220237	18220237	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgaagactttgtggaggtCgatgacaggatggtggagaa	16	3	0	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:18220237C>T	ENST00000406438.3	+	1	1614	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	378										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTGTGGAGGTCGATGACAGGA	0.448													False	0	False	17:18220237	0	T	18220237	C	T	18220237	2	4	109	1	0	0	0	0	0	0	0	1	14872	871	31	1		1	SMCR8	17	18220237	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	10170283	18220237	62974973	83	30887											
SLFN13	146857	broad.mit.edu	37	chr17	33767722	33767722	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatcccaaacactatgctCctttccaggcctgagaatcg	8	13	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:33767722C>T	ENST00000285013.6	-	6	2861	c.2586G>A	c.(2584-2586)agG>agA	p.R862R	SLFN13_ENST00000542635.1_Silent_p.R862R|SLFN13_ENST00000360502.2_Silent_p.R544R|SLFN13_ENST00000526861.1_Silent_p.R862R|SLFN13_ENST00000534689.1_Silent_p.R544R|SLFN13_ENST00000533791.1_Silent_p.R862R	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	862						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACACTATGCTCCTTTCCAGGC	0.478													False	0	False	17:33767722	0	T	33767722	C	T	33767722	2	4	109	1	0	0	0	0	0	0	0	1	14816	854	30	2		2	SLFN13	17	33767722	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	15547485	33767722	47427488	84	30888											
SPATA20	64847	broad.mit.edu	37	chr17	48631760	48631760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgtcgtgtcccggtggcGttgcccgagatggtccgcgc	16	13	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:48631760G>A	ENST00000006658.6	+	15	2226	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	SPATA20_ENST00000393244.3_Silent_p.A642A|SPATA20_ENST00000356488.4_Silent_p.A686A|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	686					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TCCCGGTGGCGTTGCCCGAGA	0.647													False	0	False	17:48631760	0	A	48631760	G	A	48631760	2	1	109	1	0	0	0	0	0	0	0	1	15088	1132	40	1		1	SPATA20	17	48631760	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	14864038	48631760	32563450	85	30889											
CLTC	1213	broad.mit.edu	37	chr17	57725004	57725004	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcaaaacaaaagtggttaCttctgactggtatatctgca	8	7	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:57725004C>A	ENST00000269122.3	+	3	770	c.496C>A	c.(496-498)Ctt>Att	p.L166I	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.L166I	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	166	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAAGTGGTTACTTCTGACTGG	0.393			T	"ALK, TFE3"	"ALCL, renal "								False	0	False	17:57725004	0	A	57725004	C	A	57725004	3	1	109	1	0	0	0	0	1	0	0	0	3589	565	20	3	506	3	CLTC	17	57725004	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	9093244	57725004	23470206	86	30890											
ZNF521	25925	broad.mit.edu	37	chr18	22806481	22806481	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaggcatggcagaaacaatCagacctgggtcctgagcttc	12	11	1	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:22806481C>T	ENST00000361524.3	-	4	1549	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	ZNF521_ENST00000584787.1_Silent_p.L247L|ZNF521_ENST00000538137.2_Silent_p.L467L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	467					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGAAACAATCAGACCTGGGT	0.463			T	PAX5	ALL								False	0	False	18:22806481	0	T	22806481	C	T	22806481	2	4	109	1	0	0	0	0	0	0	0	1	18048	813	29	2		2	ZNF521	18	22806481	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08		22806481	55270767	87	30891											
KLHL14	57565	broad.mit.edu	37	chr18	30322007	30322007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcattttcttgttagagCgaattcttcacccaaaacaa	5	10	3	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:30322007C>T	ENST00000359358.4	-	3	1391	c.953G>A	c.(952-954)cGc>cAc	p.R318H	KLHL14_ENST00000358095.4_Missense_Mutation_p.R318H	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	318						cytosol|endoplasmic reticulum membrane		p.R318H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CTTGTTAGAGCGAATTCTTCA	0.428													False	0	False	18:30322007	0	T	30322007	C	T	30322007	3	4	109	1	0	0	0	0	1	0	0	0	8420	768	27	1	961	1	KLHL14	18	30322007	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	7515526	30322007	47755241	88	30892											
DCC	1630	broad.mit.edu	37	chr18	50912488	50912488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcctctttatgaaagtgCcaccaccaggtctataaccg	7	12	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:50912488C>T	ENST00000442544.2	+	16	3051	c.2435C>T	c.(2434-2436)gCc>gTc	p.A812V	DCC_ENST00000581580.1_Missense_Mutation_p.A467V|DCC_ENST00000412726.1_Missense_Mutation_p.A660V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	812	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATGAAAGTGCCACCACCAGG	0.333													False	0	True	18:50912488	0	T	50912488	C	T	50912488	3	4	109	1	0	0	0	0	1	0	0	0	4307	739	26	2	2497	2	DCC	18	50912488	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	20590481	50912488	27164760	89	30893											
CDH20	28316	broad.mit.edu	37	chr18	59217416	59217416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctcccagtcagtttgagCcggggcgccctcattgccat	11	14	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:59217416C>T	ENST00000262717.4	+	11	2252	c.1854C>T	c.(1852-1854)agC>agT	p.S618S	CDH20_ENST00000538374.1_Silent_p.S618S|CDH20_ENST00000536675.2_Silent_p.S618S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	618					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCAGTTTGAGCCGGGGCGCCC	0.597													False	0	False	18:59217416	0	T	59217416	C	T	59217416	2	4	109	1	0	0	0	0	0	0	0	1	3129	738	26	2		2	CDH20	18	59217416	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	8304928	59217416	18859832	90	30894											
CYP4F22	126410	broad.mit.edu	37	chr19	15655075	15655075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcatgaaaggccgggagcTggaggagctggagtggtgag	20	5	1	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:15655075T>C	ENST00000269703.3	+	10	1320	c.1121T>C	c.(1120-1122)cTg>cCg	p.L374P	CYP4F22_ENST00000601005.2_Missense_Mutation_p.L374P	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GGCCGGGAGCTGGAGGAGCTG	0.542													False	0	False	19:15655075	0	C	15655075	T	C	15655075	3	2	109	1	0	0	0	0	1	0	0	0	4214	1580	55	4	1151	4	CYP4F22	19	15655075	Missense_Mutation	SNP	T	TCGA-IB-A7M4-01A-11D-A36O-08		15655075	43473908	91	30895											
DPY19L3	147991	broad.mit.edu	37	chr19	32971419	32971419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacgagcggaggcaccgcCggggctgccgactccgggac	17	15	0	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:32971419C>T	ENST00000342179.5	+	18	2160	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	DPY19L3_ENST00000392250.2_Missense_Mutation_p.R649W|DPY19L3_ENST00000586987.1_Missense_Mutation_p.R649W	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	649						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GAGGCACCGCCGGGGCTGCCG	0.632													False	0	True	19:32971419	0	T	32971419	C	T	32971419	3	4	109	1	0	0	0	0	1	0	0	0	4772	643	23	1	2011	1	DPY19L3	19	32971419	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	17316344	32971419	26157564	92	30896											
ZNF569	148266	broad.mit.edu	37	chr19	37903725	37903725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctttgggagaaggcttttCcacatttattacattcatag	8	7	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:37903725C>T	ENST00000316950.6	-	6	2392	c.1835G>A	c.(1834-1836)gGa>gAa	p.G612E	ZNF569_ENST00000392149.2_Missense_Mutation_p.G612E|ZNF569_ENST00000392150.2_Missense_Mutation_p.G453E	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGGCTTTTCCACATTTATT	0.408													False	0	True	19:37903725	0	T	37903725	C	T	37903725	3	4	109	1	0	0	0	0	1	0	0	0	18083	855	30	2	229	2	ZNF569	19	37903725	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	4932306	37903725	21225258	93	30897											
ZNF613	79898	broad.mit.edu	37	chr19	52448407	52448407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatcgacgtactcacactgGagagaaaccctatgtatgca	8	11	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:52448407G>A	ENST00000293471.6	+	6	1950	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.G388E	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ACTCACACTGGAGAGAAACCC	0.418													False	0	True	19:52448407	0	A	52448407	G	A	52448407	3	1	109	1	0	0	0	0	1	0	0	0	18121	1174	41	2	1285	2	ZNF613	19	52448407	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	14544682	52448407	6680576	94	30898											
ZNF773	374928	broad.mit.edu	37	chr19	58016113	58016113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctcagaggctcctctaccGcaatgtgatgctggagaact	11	12	2	3	rs140869170		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:58016113G>T	ENST00000599847.1	+	2	264	c.122G>T	c.(121-123)cGc>cTc	p.R41L	ZNF773_ENST00000598770.1_Missense_Mutation_p.R40L|ZNF773_ENST00000593916.1_Missense_Mutation_p.R40L|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000282292.4_Missense_Mutation_p.R41L			Q6PK81	ZN773_HUMAN	zinc finger protein 773	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CTCCTCTACCGCAATGTGATG	0.527													False	0	False	19:58016113	0	T	58016113	G	T	58016113	3	4	109	1	0	0	0	0	1	0	0	0	18228	1087	38	3	128	3	ZNF773	19	58016113	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	5567706	58016113	1112870	95	30899											
BMP2	650	broad.mit.edu	37	chr20	6759506	6759506	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgtggctcccccggggtatCacgccttttactgccacgga	11	14	1	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:6759506C>G	ENST00000378827.4	+	3	2180	c.961C>G	c.(961-963)Cac>Gac	p.H321D		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	321					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	CCCGGGGTATCACGCCTTTTA	0.512													False	0	False	20:6759506	0	G	6759506	C	G	6759506	3	3	109	1	0	0	0	0	1	0	0	0	1464	826	29	5	967	5	BMP2	20	6759506	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08		6759506	56266014	96	30900											
HM13	81502	broad.mit.edu	37	chr20	30125989	30125989	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atttctgcctcagatattctCccaggagtacatcaacctcc	5	14	4	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:30125989C>G	ENST00000335574.5	+	3	414	c.290C>G	c.(289-291)tCc>tGc	p.S97C	HM13_ENST00000398174.3_Missense_Mutation_p.S97C|HM13_ENST00000376127.3_Missense_Mutation_p.S97C|HM13_ENST00000340852.5_Missense_Mutation_p.S97C	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	97					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CAGATATTCTCCCAGGAGTAC	0.512													False	0	True	20:30125989	0	G	30125989	C	G	30125989	3	3	109	1	0	0	0	0	1	0	0	0	7264	855	30	5	300	5	HM13	20	30125989	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	23366483	30125989	32899531	97	30901											
MYLK2	85366	broad.mit.edu	37	chr20	30414610	30414610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacacagcatcgagggcGgagagctcttcgagaggatt	15	9	1	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:30414610G>A	ENST00000375994.2	+	7	1366	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	MYLK2_ENST00000375985.4_Missense_Mutation_p.G365R|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	365	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATCGAGGGCGGAGAGCTCTT	0.587													False	0	False	20:30414610	0	A	30414610	G	A	30414610	3	1	109	1	0	0	0	0	1	0	0	0	10124	1117	39	1	1119	1	MYLK2	20	30414610	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	288621	30414610	32610910	98	30902											
TOP1	7150	broad.mit.edu	37	chr20	39750710	39750710	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttgatgaagctggaagttCaagccacagaccgagaggaa	13	7	1	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:39750710C>A	ENST00000361337.2	+	20	2360	c.2110C>A	c.(2110-2112)Caa>Aaa	p.Q704K	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	704					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GCTGGAAGTTCAAGCCACAGA	0.478			T	NUP98	AML*								False	0	False	20:39750710	0	A	39750710	C	A	39750710	3	1	109	1	0	0	0	0	1	0	0	0	16446	827	29	3	2188	3	TOP1	20	39750710	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	9336100	39750710	23274810	99	30903											
ADAMTS5	11096	broad.mit.edu	37	chr21	28315795	28315795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatggaagacattaagcGcttatcttctgtggaaccaa	10	7	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr21:28315795G>A	ENST00000284987.5	-	3	1430	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	437	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GACATTAAGCGCTTATCTTCT	0.453													False	0	False	21:28315795	0	A	28315795	G	A	28315795	3	1	109	1	0	0	0	0	1	0	0	0	269	1087	38	1	1507	1	ADAMTS5	21	28315795	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		28315795	19814100	100	30904											
SON	6651	broad.mit.edu	37	chr21	34922623	34922623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagaccgcaggagttgccGgagctgcctaagaccacagc	12	13	0	2	rs143771064	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr21:34922623G>A	ENST00000356577.4	+	3	1561	c.1086G>A	c.(1084-1086)ccG>ccA	p.P362P	SON_ENST00000300278.4_Silent_p.P362P|SON_ENST00000381679.4_Silent_p.P362P|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.P362P	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	362					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGGAGTTGCCGGAGCTGCCTA	0.587													False	0	False	21:34922623	0	A	34922623	G	A	34922623	2	1	109	1	0	0	0	0	0	0	0	1	15006	1103	39	1		1	SON	21	34922623	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	6606828	34922623	13207272	101	30905											
NHS	4810	broad.mit.edu	37	chrX	17745920	17745920	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgaagaatcgctgcgatccaGaaaccataacatcagctggt	9	10	1	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrX:17745920G>C	ENST00000380060.3	+	6	3969	c.3631G>C	c.(3631-3633)Gaa>Caa	p.E1211Q	NHS_ENST00000398097.3_Missense_Mutation_p.E1055Q	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1211						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTGCGATCCAGAAACCATAAC	0.408													False	0	True	X:17745920	0	C	17745920	G	C	17745920	3	2	109	1	0	0	0	0	1	0	0	0	10479	943	33	5	3758	5	NHS	23	17745920	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		17745920	137524640	102	30906											
FAM133A	286499	broad.mit.edu	37	chrX	92964973	92964973	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaaagaaaagttacccTgatgataaacctttatcatc	5	7	1	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrX:92964973T>C	ENST00000538690.1	+	5	1116	c.555T>C	c.(553-555)ccT>ccC	p.P185P	FAM133A_ENST00000332647.4_Silent_p.P185P|FAM133A_ENST00000355813.5_Silent_p.P185P|FAM133A_ENST00000322139.4_Silent_p.P185P	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	185	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAGTTACCCTGATGATAAAC	0.368													False	0	True	X:92964973	0	C	92964973	T	C	92964973	2	2	109	1	0	0	0	0	0	0	0	1	5479	1567	55	4		4	FAM133A	23	92964973	Silent	SNP	T	TCGA-IB-A7M4-01A-11D-A36O-08	75219053	92964973	62305587	103	30907											
NBPF3	84224	broad.mit.edu	37	chr1	21795227	21795227	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacgtcagcatggtggtatcTgccggcccttggtccggtga	14	11	2	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:21795227T>A	ENST00000318220.6	+	6	1060	c.12T>A	c.(10-12)tcT>tcA	p.S4S	NBPF3_ENST00000342104.5_Silent_p.S60S|NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000318249.5_Silent_p.S60S			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	60						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGTGGTATCTGCCGGCCCTT	0.512											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:21795227	0	A	21795227	T	A	21795227	2	1	110	1	0	0	0	0	0	0	0	1	10265	1567	55	5		5	NBPF3	1	21795227	Silent	SNP	T	TCGA-IB-AAUM-01A-11D-A377-08		21795227	227455394	1	30908											
LPHN2	23266	broad.mit.edu	37	chr1	82421570	82421570	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatggatacaggcaattgttGacacagtggacaaccttctg	10	8	1	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:82421570G>A	ENST00000370728.1	+	13	2476	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	LPHN2_ENST00000370725.1_Missense_Mutation_p.D611N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D598N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D598N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D611N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D598N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D611N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D611N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D598N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D611N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D536N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D598N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.D598N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D611N			O95490	LPHN2_HUMAN	latrophilin 2	611					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGCAATTGTTGACACAGTGGA	0.358													False	0	False	1:82421570	0	A	82421570	G	A	82421570	3	1	110	1	0	0	0	0	1	0	0	0	8978	1290	45	2	1822	2	LPHN2	1	82421570	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	60626343	82421570	166829051	2	30909											
AMPD1	270	broad.mit.edu	37	chr1	115217379	115217379	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcttccaactcacctttttTaaatttaggccatgagagat	6	9	1	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:115217379T>A	ENST00000369538.3	-	12	1928	c.1881A>T	c.(1879-1881)ttA>ttT	p.L627F	AMPD1_ENST00000520113.2_Missense_Mutation_p.L631F|AMPD1_ENST00000353928.6_Missense_Mutation_p.L598F	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	598					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.L598F(2)|p.L631F(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCACCTTTTTTAAATTTAGGC	0.418													False	0	True	1:115217379	0	A	115217379	T	A	115217379	3	1	110	1	0	0	0	0	1	0	0	0	585	1751	61	5	465	5	AMPD1	1	115217379	Missense_Mutation	SNP	T	TCGA-IB-AAUM-01A-11D-A377-08	32795809	115217379	134033242	3	30910											
FLG	2312	broad.mit.edu	37	chr1	152282688	152282688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggttcatggtgacgtgaCcctgagtgcctggagccgtc	15	10	1	3			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:152282688C>T	ENST00000368799.1	-	3	4709	c.4674G>A	c.(4672-4674)ggG>ggA	p.G1558G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1558	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGACGTGACCCTGAGTGCC	0.592									Ichthyosis				False	0	True	1:152282688	0	T	152282688	C	T	152282688	2	4	110	1	0	0	0	0	0	0	0	1	5962	494	18	2		2	FLG	1	152282688	Silent	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	37065309	152282688	96967933	4	30911											
ADAMTS4	9507	broad.mit.edu	37	chr1	161166318	161166318	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcttagaattgtgcagtgcAtggcctgcggtgctgactgg	14	8	1	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:161166318A>T	ENST00000367995.3	-	2	1411	c.986T>A	c.(985-987)aTg>aAg	p.M329K	ADAMTS4_ENST00000367996.5_Intron			O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	0	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			tgtgcagtgcatggcctgcGG	0.562													False	0	True	1:161166318	0	T	161166318	A	T	161166318	3	4	110	1	0	0	0	0	1	0	0	0	268	232	8	5		5	ADAMTS4	1	161166318	Missense_Mutation	SNP	A	TCGA-IB-AAUM-01A-11D-A377-08	8883630	161166318	88084303	5	30912											
SNRPE	6635	broad.mit.edu	37	chr1	203831342	203831342	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaacctcatcttcagatacTtacaaaatgtacgtaagttg	6	8	3	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:203831342T>A	ENST00000414487.2	+	2	118	c.73T>A	c.(73-75)Tta>Ata	p.L25I	SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	25					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCAGATACTTACAAAATGT	0.403													False	0	False	1:203831342	0	A	203831342	T	A	203831342	3	1	110	1	0	0	0	0	1	0	0	0	14947	1606	56	5	79	5	SNRPE	1	203831342	Missense_Mutation	SNP	T	TCGA-IB-AAUM-01A-11D-A377-08	42665024	203831342	45419279	6	30913											
SUCLG1	8802	broad.mit.edu	37	chr2	84652654	84652654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcaataattgccccgGcatgacccattcttctccca	5	17	2	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:84652654G>A	ENST00000393868.2	-	8	1109	c.899C>T	c.(898-900)gCc>gTc	p.A300V	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	300					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	AATTGCCCCGGCATGACCCAT	0.473													False	0	False	2:84652654	0	A	84652654	G	A	84652654	3	1	110	1	0	0	0	0	1	0	0	0	15446	1203	42	2	149	2	SUCLG1	2	84652654	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		84652654	158546719	7	30914											
ZAP70	7535	broad.mit.edu	37	chr2	98349783	98349783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctcccacactcccaGcccacccatccacgttgact	5	21	0	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:98349783G>A	ENST00000264972.5	+	7	1029	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.A146T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	272	Interdomain B.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CACACTCCCAGCCCACCCATC	0.706													False	0	True	2:98349783	0	A	98349783	G	A	98349783	3	1	110	1	0	0	0	0	1	0	0	0	17598	971	34	2	832	2	ZAP70	2	98349783	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	13697129	98349783	144849590	8	30915											
GORASP2	26003	broad.mit.edu	37	chr2	171822424	171822424	+	Frame_Shift_Del	DEL	A	A	-													tcttctgcagcaagctcaggAgagctgctgtcttccctccc							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:171822424delA	ENST00000234160.4	+	10	1958	c.1143delA	c.(1141-1143)ggafs	p.G381fs	GORASP2_ENST00000452526.2_Frame_Shift_Del_p.G393fs	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	381						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CAAGCTCAGGAGAGCTGCTGT	0.602													False	1	False	2:171822424	0	-	171822424	A	-	171822424	7	5	110	1	0	1	0	1	0	0	0	0	6621	291	11	0	1181	0	GORASP2	2	171822424	Frame_Shift_Del	DEL	A	TCGA-IB-AAUM-01A-11D-A377-08	73472641	171822424	71376949	9	30916											
CNTN6	27255	broad.mit.edu	37	chr3	1415695	1415695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatttcgtgttgttgccgGcaacagcattgggattggag	14	6	0	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:1415695G>A	ENST00000446702.2	+	16	2660	c.2033G>A	c.(2032-2034)gGc>gAc	p.G678D	CNTN6_ENST00000539053.1_Missense_Mutation_p.G606D|CNTN6_ENST00000350110.2_Missense_Mutation_p.G678D			Q9UQ52	CNTN6_HUMAN	contactin 6	678	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.G678D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTTGTTGCCGGCAACAGCATT	0.383													False	0	False	3:1415695	0	A	1415695	G	A	1415695	3	1	110	1	0	0	0	0	1	0	0	0	3668	1203	42	2	2091	2	CNTN6	3	1415695	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		1415695	196606735	10	30917											
XIRP1	165904	broad.mit.edu	37	chr3	39227663	39227663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccagctttccgaagacCgtcctggatggggttggaag	14	11	0	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:39227663C>T	ENST00000340369.3	-	2	3502	c.3274G>A	c.(3274-3276)Ggt>Agt	p.G1092S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G1092S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1092							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTCCGAAGACCGTCCTGGATG	0.602													False	0	False	3:39227663	0	T	39227663	C	T	39227663	3	4	110	1	0	0	0	0	1	0	0	0	17513	652	23	1	2261	1	XIRP1	3	39227663	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	37811968	39227663	158794767	11	30918											
MYL3	4634	broad.mit.edu	37	chr3	46904790	46904790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactcgacctccttagggcGctcaggctcagggggaggtg	15	11	2	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:46904790G>A	ENST00000395869.1	-	1	142	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYL3_ENST00000292327.4_Missense_Mutation_p.R31C			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	31					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TCCTTAGGGCGCTCAGGCTCA	0.602													False	0	False	3:46904790	0	A	46904790	G	A	46904790	3	1	110	1	0	0	0	0	1	0	0	0	10115	1087	38	1	520	1	MYL3	3	46904790	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	7677127	46904790	151117640	12	30919											
CCDC80	151887	broad.mit.edu	37	chr3	112324383	112324383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactcatcttctgggcagcGcatccccagtgactgctgaa	9	13	3	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:112324383G>A	ENST00000206423.3	-	8	3687	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R912C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	912										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTGGGCAGCGCATCCCCAGT	0.473													False	0	False	3:112324383	0	A	112324383	G	A	112324383	3	1	110	1	0	0	0	0	1	0	0	0	2875	1087	38	1	122	1	CCDC80	3	112324383	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	65419593	112324383	85698047	13	30920											
CXXC4	80319	broad.mit.edu	37	chr4	105412405	105412405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgcaacgacggctctggCgggcagccagctttccccag	12	14	1	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr4:105412405C>T	ENST00000394767.2	-	2	1005	c.555G>A	c.(553-555)ccG>ccA	p.P185P	CXXC4_ENST00000426831.1_Silent_p.P16P|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	16					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		ACGGCTCTGGCGGGCAGCCAG	0.627													False	0	True	4:105412405	0	T	105412405	C	T	105412405	2	4	110	1	0	0	0	0	0	0	0	1	4123	755	27	1		1	CXXC4	4	105412405	Silent	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08		105412405	85741871	14	30921											
CCNG1	900	broad.mit.edu	37	chr5	162868135	162868135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctgcttttatttggctGtaaaatcaatagaagaggaa	10	4	1	3			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr5:162868135G>A	ENST00000340828.2	+	3	540	c.316G>A	c.(316-318)Gta>Ata	p.V106I	CCNG1_ENST00000511683.2_5'UTR|CCNG1_ENST00000512163.1_5'UTR|AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000393929.1_Missense_Mutation_p.V106I	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	106					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		TTATTTGGCTGTAAAATCAAT	0.393													False	0	False	5:162868135	0	A	162868135	G	A	162868135	3	1	110	1	0	0	0	0	1	0	0	0	2946	1377	48	2	322	2	CCNG1	5	162868135	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		162868135	18047125	15	30922											
RPP40	10799	broad.mit.edu	37	chr6	5004223	5004223	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgcctcccgaagccggCgcagcgtggccatgctctcc	14	18	1	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:5004223C>G	ENST00000380051.2	-	1	58	c.14G>C	c.(13-15)cGc>cCc	p.R5P	RPP40_ENST00000319533.5_Missense_Mutation_p.R5P	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	5					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CCGAAGCCGGCGCAGCGTGGC	0.697											OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	6:5004223	0	G	5004223	C	G	5004223	3	3	110	1	0	0	0	0	1	0	0	0	13693	768	27	5	1109	5	RPP40	6	5004223	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08		5004223	166110844	16	30923											
PI16	221476	broad.mit.edu	37	chr6	36930968	36930968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagaggctccaccttgcGtaacaactgaggtcccttcc	8	15	0	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:36930968G>A	ENST00000373674.3	+	5	1178	c.850G>A	c.(850-852)Gta>Ata	p.V284I	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	284						extracellular region|integral to membrane	peptidase inhibitor activity	p.V284I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCACCTTGCGTAACAACTGA	0.567													False	0	False	6:36930968	0	A	36930968	G	A	36930968	3	1	110	1	0	0	0	0	1	0	0	0	11938	1145	40	1	868	1	PI16	6	36930968	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	31926745	36930968	134184099	17	30924											
PDE1C	5137	broad.mit.edu	37	chr7	31793127	31793127	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcataggagctagatgcGtaagcagggcgtttaaaatg	15	5	0	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:31793127G>A	ENST00000396193.1	-	19	2774	c.2181C>T	c.(2179-2181)taC>taT	p.Y727Y	PDE1C_ENST00000321453.7_Silent_p.Y667Y|PDE1C_ENST00000396191.1_Silent_p.Y667Y	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	667					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCTAGATGCGTAAGCAGGGC	0.478													False	0	False	7:31793127	0	A	31793127	G	A	31793127	2	1	110	1	0	0	0	0	0	0	0	1	11703	1160	40	1		1	PDE1C	7	31793127	Silent	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		31793127	127345536	18	30925											
AZGP1	563	broad.mit.edu	37	chr7	99565782	99565782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcagtgagtaccttgCcggtccaggatatttttgct	12	8	0	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:99565782C>T	ENST00000411734.1	-	3	605	c.600G>A	c.(598-600)cgG>cgA	p.R200R	AZGP1_ENST00000292401.4_Silent_p.R203R			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	203					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GAGTACCTTGCCGGTCCAGGA	0.532													False	0	False	7:99565782	0	T	99565782	C	T	99565782	2	4	110	1	0	0	0	0	0	0	0	1	1243	726	26	2		2	AZGP1	7	99565782	Silent	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	67772655	99565782	59572881	19	30926											
PLXNA4	91584	broad.mit.edu	37	chr7	131844259	131844259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatctgcagctttgggccGgtgggagcaaggcacattct	13	10	2	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:131844259G>A	ENST00000359827.3	-	25	5595	c.4633C>T	c.(4633-4635)Cgg>Tgg	p.R1545W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1545W			Q9HCM2	PLXA4_HUMAN	plexin A4	1545						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTTGGGCCGGTGGGAGCAA	0.557													False	0	False	7:131844259	0	A	131844259	G	A	131844259	3	1	110	1	0	0	0	0	1	0	0	0	12191	1115	39	1	1083	1	PLXNA4	7	131844259	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	32278477	131844259	27294404	20	30927											
KEL	3792	broad.mit.edu	37	chr7	142641797	142641797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgaggcgagtgatgaggGcatcccggatcgcagtgaat	15	8	1	4			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:142641797G>A	ENST00000355265.2	-	12	1820	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	449					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTGATGAGGGCATCCCGGAT	0.617													False	0	True	7:142641797	0	A	142641797	G	A	142641797	3	1	110	1	0	0	0	0	1	0	0	0	8192	1203	42	2	884	2	KEL	7	142641797	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	10797538	142641797	16496866	21	30928											
RB1CC1	9821	broad.mit.edu	37	chr8	53555118	53555118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttttcctcaagcaaaCgagctcgatcttcagaaagt	6	10	4	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:53555118C>T	ENST00000025008.5	-	18	4653	c.4130G>A	c.(4129-4131)cGt>cAt	p.R1377H	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R1377H|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R1377H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1377					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTCAAGCAAACGAGCTCGATC	0.358													False	0	True	8:53555118	0	T	53555118	C	T	53555118	3	4	110	1	0	0	0	0	1	0	0	0	13178	536	19	1	682	1	RB1CC1	8	53555118	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08		53555118	92808904	22	30929											
KCNB2	9312	broad.mit.edu	37	chr8	73480147	73480147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacaggctgcccaggacgCgcctggggaagcttcgagac	16	12	0	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:73480147C>T	ENST00000523207.1	+	2	766	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	60					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCCCAGGACGCGCCTGGGGAA	0.542													False	0	False	8:73480147	0	T	73480147	C	T	73480147	3	4	110	1	0	0	0	0	1	0	0	0	8063	768	27	1	180	1	KCNB2	8	73480147	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	19925029	73480147	72883875	23	30930											
ZFAT	57623	broad.mit.edu	37	chr8	135614834	135614834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtcctgtgggtcatgCgcgtctcggatgtgcttgat	13	9	3	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:135614834C>T	ENST00000520727.1	-	7	1391	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552													False	0	False	8:135614834	0	T	135614834	C	T	135614834	2	4	110	1	0	0	0	0	0	0	0	1	17715	755	27	1		1	ZFAT	8	135614834	Silent	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	62134687	135614834	10749188	24	30931											
MPDZ	8777	broad.mit.edu	37	chr9	13140072	13140072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatcactacccatttcgGcaaaggctgaaggagggggt	14	8	1	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:13140072G>A	ENST00000319217.7	-	28	4164	c.3917C>T	c.(3916-3918)gCc>gTc	p.A1306V	MPDZ_ENST00000541718.1_Missense_Mutation_p.A1306V|MPDZ_ENST00000538841.1_Missense_Mutation_p.A165V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A1306V|MPDZ_ENST00000536827.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000546205.1_Missense_Mutation_p.A1320V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A1306V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1306					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACCCATTTCGGCAAAGGCTGA	0.493													False	0	False	9:13140072	0	A	13140072	G	A	13140072	3	1	110	1	0	0	0	0	1	0	0	0	9789	1203	42	2	2284	2	MPDZ	9	13140072	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		13140072	128073359	25	30932											
DOLK	22845	broad.mit.edu	37	chr9	131708515	131708515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctacatagagcagtggCcggtcaaagatgatacctgg	14	9	1	3			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:131708515C>T	ENST00000372586.3	-	1	1383	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	356					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						AGAGCAGTGGCCGGTCAAAGA	0.547													False	0	False	9:131708515	0	T	131708515	C	T	131708515	2	4	110	1	0	0	0	0	0	0	0	1	4733	726	26	2		2	DOLK	9	131708515	Silent	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	118568443	131708515	9504916	26	30933											
LDB1	8861	broad.mit.edu	37	chr10	103868035	103868035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctctcgtcctcgtcccCgaactccccgcccatcaggg	9	20	2	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr10:103868035C>T	ENST00000361198.5	-	11	1566	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	LDB1_ENST00000425280.1_Missense_Mutation_p.G351R	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	351					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TCCTCGTCCCCGAACTCCCCG	0.632													False	0	True	10:103868035	0	T	103868035	C	T	103868035	3	4	110	1	0	0	0	0	1	0	0	0	8746	652	23	1	188	1	LDB1	10	103868035	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08		103868035	31666712	27	30934											
DSCAML1	57453	broad.mit.edu	37	chr11	117307881	117307881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgggctgtttcattgccGcagcccgcactgttgcaagc	11	13	1	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:117307881G>A	ENST00000321322.6	-	26	4858	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	DSCAML1_ENST00000527706.1_Silent_p.C1349C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1559					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.C1619C(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTTCATTGCCGCAGCCCGCAC	0.632													False	0	False	11:117307881	0	A	117307881	G	A	117307881	2	1	110	1	0	0	0	0	0	0	0	1	4799	1079	38	1		1	DSCAML1	11	117307881	Silent	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		117307881	17698635	28	30935											
GRIK4	2900	broad.mit.edu	37	chr11	120769305	120769305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctatgcctccaacatctCggacactctcttcaacacca	3	18	4	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:120769305C>T	ENST00000527524.2	+	12	1516	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	GRIK4_ENST00000438375.2_Missense_Mutation_p.S410L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	410					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCCAACATCTCGGACACTCTC	0.612													False	0	False	11:120769305	0	T	120769305	C	T	120769305	3	4	110	1	0	0	0	0	1	0	0	0	6823	893	31	1	1267	1	GRIK4	11	120769305	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	3461424	120769305	14237211	29	30936											
CDON	50937	broad.mit.edu	37	chr11	125871630	125871630	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttacctccactgtgcctagaGgaatctgtaagtaccactcc	7	13	1	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:125871630G>C	ENST00000392693.3	-	11	2269	c.2142C>G	c.(2140-2142)tcC>tcG	p.S714S	CDON_ENST00000263577.7_Silent_p.S714S|CDON_ENST00000531738.1_Silent_p.S91S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	714					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTGCCTAGAGGAATCTGTAA	0.433													False	0	False	11:125871630	0	C	125871630	G	C	125871630	2	2	110	1	0	0	0	0	0	0	0	1	3193	987	35	5		5	CDON	11	125871630	Silent	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	5102325	125871630	9134886	30	30937											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	110	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08		25398284	108453611	31	30938											
NUP107	57122	broad.mit.edu	37	chr12	69082833	69082833	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcagaaaagagttttaCgtatcctttgcgatttaagc	9	7	1	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:69082833C>T	ENST00000229179.4	+	2	432	c.100C>T	c.(100-102)Ctt>Ttt	p.L34F	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_5'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	34					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGAGTTTTACGTATCCTTTG	0.378													False	0	False	12:69082833	0	T	69082833	C	T	69082833	5	4	110	1	0	0	0	0	0	0	1	0	10821	550	19	1	106	1	NUP107	12	69082833	Splice_Site	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	43684549	69082833	64769062	32	30939											
HERC2	8924	broad.mit.edu	37	chr15	28518096	28518096	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggccagggccaagtgctgGtcctgcagggggatgcttcc	16	11	0	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:28518096G>C	ENST00000261609.7	-	8	963	c.855C>G	c.(853-855)gaC>gaG	p.D285E		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	285					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCAAGTGCTGGTCCTGCAGGG	0.612													False	0	False	15:28518096	0	C	28518096	G	C	28518096	3	2	110	1	0	0	0	0	1	0	0	0	7105	1252	44	5	13993	5	HERC2	15	28518096	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		28518096	74013296	33	30940											
AQP9	366	broad.mit.edu	37	chr15	58471472	58471472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactgaacagtggctgtgCcatgaacccagctcgagacc	13	12	0	3			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:58471472C>T	ENST00000219919.4	+	5	1011	c.641C>T	c.(640-642)gCc>gTc	p.A214V	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.A149V|AQP9_ENST00000536493.1_Missense_Mutation_p.A214V	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	214					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AGTGGCTGTGCCATGAACCCA	0.557													False	0	False	15:58471472	0	T	58471472	C	T	58471472	3	4	110	1	0	0	0	0	1	0	0	0	835	739	26	2	659	2	AQP9	15	58471472	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	29953376	58471472	44059920	34	30941											
KLHL25	64410	broad.mit.edu	37	chr15	86311613	86311613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgccaaggctgggggcactCggccttgatcgtccacctgt	13	15	0	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:86311613C>T	ENST00000337975.5	-	2	1703	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.E477K	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	477						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGGGGGCACTCGGCCTTGATC	0.612													False	0	False	15:86311613	0	T	86311613	C	T	86311613	3	4	110	1	0	0	0	0	1	0	0	0	8430	893	31	1	344	1	KLHL25	15	86311613	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	27840141	86311613	16219779	35	30942											
MAN2A2	4122	broad.mit.edu	37	chr15	91454724	91454724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagggtcagcccctggccGtgcagatcagcgcacactgg	15	13	2	1	rs146632780	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:91454724G>A	ENST00000360468.3	+	13	2071	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	MAN2A2_ENST00000431652.2_Missense_Mutation_p.V193M|MAN2A2_ENST00000559717.1_Missense_Mutation_p.V685M	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	685					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCCCCTGGCCGTGCAGATCAG	0.647													False	0	False	15:91454724	0	A	91454724	G	A	91454724	3	1	110	1	0	0	0	0	1	0	0	0	9282	1145	40	1	2103	1	MAN2A2	15	91454724	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	5143111	91454724	11076668	36	30943											
PIGQ	9091	broad.mit.edu	37	chr16	633162	633162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgctcctgaacacgGcaggccctgctatcacacct	10	15	1	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:633162G>A	ENST00000026218.5	+	10	1899	c.1811G>A	c.(1810-1812)gGc>gAc	p.G604D	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	604					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCTGAACACGGCAGGCCCTGC	0.642													False	0	False	16:633162	0	A	633162	G	A	633162	3	1	110	1	0	0	0	0	1	0	0	0	11965	1203	42	2	1911	2	PIGQ	16	633162	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		633162	89721591	37	30944											
ADCY9	115	broad.mit.edu	37	chr16	4163864	4163864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagaaatgtgaactttgCcggccactcccagctgctcc	8	16	1	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:4163864C>T	ENST00000294016.3	-	2	2118	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	527					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGAACTTTGCCGGCCACTCC	0.522													False	0	False	16:4163864	0	T	4163864	C	T	4163864	3	4	110	1	0	0	0	0	1	0	0	0	301	739	26	2	2521	2	ADCY9	16	4163864	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	3530702	4163864	86190889	38	30945											
ITFG1	81533	broad.mit.edu	37	chr16	47195677	47195677	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaccttcgagggacattgtGagggtatggaatgacaatta	12	5	0	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:47195677G>A	ENST00000320640.6	-	16	1873	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	RP11-329J18.2_ENST00000565694.1_RNA|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_Missense_Mutation_p.H436Y|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	549						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GGGACATTGTGAGGGTATGGA	0.373													False	0	False	16:47195677	0	A	47195677	G	A	47195677	3	1	110	1	0	0	0	0	1	0	0	0	7919	1290	45	2	205	2	ITFG1	16	47195677	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	43031813	47195677	43159076	39	30946											
DVL2	1856	broad.mit.edu	37	chr17	7137472	7137472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatcgccgagggtgatgCgctcggcggggacagggatc	18	9	0	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:7137472C>T	ENST00000005340.5	-	1	392	c.110G>A	c.(109-111)cGc>cAc	p.R37H	DVL2_ENST00000575458.1_Missense_Mutation_p.R37H	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	37	DIX.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GAGGGTGATGCGCTCGGCGGG	0.602													False	0	False	17:7137472	0	T	7137472	C	T	7137472	3	4	110	1	0	0	0	0	1	0	0	0	4866	768	27	1	2160	1	DVL2	17	7137472	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08		7137472	74057738	40	30947											
TP53I13	90313	broad.mit.edu	37	chr17	27898646	27898646	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctctaccacccctgtgcccAtccctggctgaagctccagc	7	20	1	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:27898646A>T	ENST00000301057.7	+	4	336	c.221A>T	c.(220-222)cAt>cTt	p.H74L	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	74						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CCCTGTGCCCATCCCTGGCTG	0.577													False	0	True	17:27898646	0	T	27898646	A	T	27898646	3	4	110	1	0	0	0	0	1	0	0	0	16469	217	8	5	235	5	TP53I13	17	27898646	Missense_Mutation	SNP	A	TCGA-IB-AAUM-01A-11D-A377-08	20761174	27898646	53296564	41	30948											
RHOT1	55288	broad.mit.edu	37	chr17	30521098	30521098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggttatgatgatgacctgGatttgacacctgaatatttg	10	5	0	5			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:30521098G>A	ENST00000358365.3	+	11	1068	c.841G>A	c.(841-843)Gat>Aat	p.D281N	RHOT1_ENST00000581094.1_Missense_Mutation_p.D281N|RHOT1_ENST00000394692.2_Missense_Mutation_p.D281N|RHOT1_ENST00000545287.2_Missense_Mutation_p.D281N|RHOT1_ENST00000583994.1_Missense_Mutation_p.D154N|RHOT1_ENST00000354266.3_Missense_Mutation_p.D260N|RHOT1_ENST00000333942.6_Missense_Mutation_p.D281N|RHOT1_ENST00000580976.1_3'UTR	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	281					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGATGACCTGGATTTGACACC	0.363													False	0	False	17:30521098	0	A	30521098	G	A	30521098	3	1	110	1	0	0	0	0	1	0	0	0	13422	1174	41	2	883	2	RHOT1	17	30521098	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	2622452	30521098	50674112	42	30949											
SMAD4	4089	broad.mit.edu	37	chr18	48604703	48604703	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgagttttgtgaaaggcTggggaccggattacccaaga	15	6	0	3			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr18:48604703T>G	ENST00000342988.3	+	12	2063	c.1525T>G	c.(1525-1527)Tgg>Ggg	p.W509G	SMAD4_ENST00000588745.1_Missense_Mutation_p.W413G|SMAD4_ENST00000398417.2_Missense_Mutation_p.W509G|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	509	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTGAAAGGCTGGGGACCGGA	0.473													False	0	True	18:48604703	0	G	48604703	T	G	48604703	3	3	110	1	0	0	0	0	1	0	0	0	14840	1580	55	4	1567	4	SMAD4	18	48604703	Missense_Mutation	SNP	T	TCGA-IB-AAUM-01A-11D-A377-08		48604703	29472545	43	30950											
TSHZ1	10194	broad.mit.edu	37	chr18	72998573	72998573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagaatggcgccagctAcacctggcagtttgaggccc	11	14	0	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr18:72998573A>G	ENST00000322038.5	+	2	1660	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C	TSHZ1_ENST00000580243.1_Missense_Mutation_p.Y404C	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	404						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCGCCAGCTACACCTGGCAG	0.612													False	0	False	18:72998573	0	G	72998573	A	G	72998573	3	3	110	1	0	0	0	0	1	0	0	0	16706	391	14	4	1078	4	TSHZ1	18	72998573	Missense_Mutation	SNP	A	TCGA-IB-AAUM-01A-11D-A377-08	24393870	72998573	5078675	44	30951											
KRI1	65095	broad.mit.edu	37	chr19	10671101	10671101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatccaactcagggtcGttccagtattccttgagatg	8	12	2	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:10671101G>A	ENST00000312962.6	-	9	724	c.705C>T	c.(703-705)aaC>aaT	p.N235N	KRI1_ENST00000361821.5_Silent_p.N231N	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	235	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACTCAGGGTCGTTCCAGTATT	0.552													False	0	False	19:10671101	0	A	10671101	G	A	10671101	2	1	110	1	0	0	0	0	0	0	0	1	8494	1136	40	1		1	KRI1	19	10671101	Silent	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		10671101	48457882	45	30952											
OR10H3	26532	broad.mit.edu	37	chr19	15852910	15852910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccttctgctgagggccgGcacaagactttctccacttg	9	13	2	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:15852910G>A	ENST00000305892.1	+	1	708	c.708G>A	c.(706-708)cgG>cgA	p.R236R		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGAGGGCCGGCACAAGACTT	0.502													False	0	False	19:15852910	0	A	15852910	G	A	15852910	2	1	110	1	0	0	0	0	0	0	0	1	10975	1190	42	2		2	OR10H3	19	15852910	Silent	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	5181809	15852910	43276073	46	30953											
ZNF781	163115	broad.mit.edu	37	chr19	38160168	38160168	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaagtgttggacaggagaCaaaaaccttcccacactgct	8	11	0	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:38160168C>A	ENST00000358582.4	-	4	1630	c.882G>T	c.(880-882)ttG>ttT	p.L294F	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.L294F	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GGACAGGAGACAAAAACCTTC	0.383													False	0	True	19:38160168	0	A	38160168	C	A	38160168	3	1	110	1	0	0	0	0	1	0	0	0	18236	477	17	3	105	3	ZNF781	19	38160168	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	22307258	38160168	20968815	47	30954											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	12	14	1	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627													False	0	False	19:40395919	0	A	40395919	G	A	40395919	3	1	110	1	0	0	0	0	1	0	0	0	5818	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	2235751	40395919	18733064	48	30955											
IZUMO1	284359	broad.mit.edu	37	chr19	49248495	49248495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatcactgtctgtgatgcGtttcagatccttcagcaaac	7	11	4	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:49248495G>A	ENST00000332955.2	-	3	833	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	96					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TCTGTGATGCGTTTCAGATCC	0.507													False	0	True	19:49248495	0	A	49248495	G	A	49248495	3	1	110	1	0	0	0	0	1	0	0	0	7983	1145	40	1	798	1	IZUMO1	19	49248495	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	8852576	49248495	9880488	49	30956											
ZNF544	27300	broad.mit.edu	37	chr19	58773981	58773981	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcagtgtgggaaagccttttCagggagctctaaccttcttt	10	9	4	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:58773981C>G	ENST00000269829.4	+	7	2483	c.2009C>G	c.(2008-2010)tCa>tGa	p.S670*	ZNF544_ENST00000596652.1_Nonsense_Mutation_p.S670*|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600220.1_Nonsense_Mutation_p.S642*|ZNF544_ENST00000599953.1_Nonsense_Mutation_p.S528*|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.S642*|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.S642*	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	670					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AAAGCCTTTTCAGGGAGCTCT	0.453													False	0	True	19:58773981	0	G	58773981	C	G	58773981	4	3	110	1	0	0	0	0	0	1	0	0	18060	838	29	5	2023	5	ZNF544	19	58773981	Nonsense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	9525486	58773981	355002	50	30957											
JAM2	58494	broad.mit.edu	37	chr21	27066110	27066110	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgatagatttcaatatccGgatcaaaaatgtgacaagaa	8	5	2	4			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr21:27066110G>T	ENST00000480456.1	+	4	834	c.284G>T	c.(283-285)cGg>cTg	p.R95L	JAM2_ENST00000312957.5_Missense_Mutation_p.R95L|JAM2_ENST00000400532.1_Missense_Mutation_p.R95L|JAM2_ENST00000425221.2_Missense_Mutation_p.R59L	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	95	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTCAATATCCGGATCAAAAAT	0.378													False	0	False	21:27066110	0	T	27066110	G	T	27066110	3	4	110	1	0	0	0	0	1	0	0	0	7993	1116	39	3	298	3	JAM2	21	27066110	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		27066110	21063785	51	30958											
HMGXB4	10042	broad.mit.edu	37	chr22	35660888	35660888	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatggtggctcccacaaatcGaaaaaaatgaaacctctcta	7	10	1	1	rs148445726		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:35660888G>A	ENST00000216106.5	+	5	635	c.507G>A	c.(505-507)tcG>tcA	p.S169S	HMGXB4_ENST00000444518.2_Silent_p.S60S	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	169					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCACAAATCGAAAAAAATGA	0.463													False	0	True	22:35660888	0	A	35660888	G	A	35660888	2	1	110	1	0	0	0	0	0	0	0	1	7286	1045	37	1		1	HMGXB4	22	35660888	Silent	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		35660888	15643678	52	30959											
PVALB	5816	broad.mit.edu	37	chr22	37209707	37209707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtcaaccccaattttgCcgtccccatctttgtctcca	4	18	3	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:37209707C>T	ENST00000216200.5	-	4	342	c.287G>A	c.(286-288)gGc>gAc	p.G96D	PVALB_ENST00000417718.2_Missense_Mutation_p.G96D|PVALB_ENST00000404171.1_Missense_Mutation_p.G64D	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	96	EF-hand 2.						calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						CCCAATTTTGCCGTCCCCATC	0.512													False	0	False	22:37209707	0	T	37209707	C	T	37209707	3	4	110	1	0	0	0	0	1	0	0	0	12915	739	26	2	53	2	PVALB	22	37209707	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	1548819	37209707	14094859	53	30960											
IRS4	8471	broad.mit.edu	37	chrX	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-													ctgctgctagagctgccgctGccgccgctgctgcacctctt					rs2073114	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616													False	2	True	X:107979510	0	-	107979512	GCC	-	107979510	7	5	110	1	0	1	0	1	0	0	0	0	7892	1319	46	0	3712	0	IRS4	23	107979510	In_Frame_Del	DEL	GCC	TCGA-IB-AAUM-01A-11D-A377-08		107979510	47291050	54	30961											
MTOR	2475	broad.mit.edu	37	chr1	11217239	11217239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctcgaggcagcgcatgCggcccagcatcagctctggg	15	14	2	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:11217239C>T	ENST00000361445.4	-	30	4515	c.4439G>A	c.(4438-4440)cGc>cAc	p.R1480H		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1480	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCAGCGCATGCGGCCCAGCAT	0.532													False	0	False	1:11217239	0	T	11217239	C	T	11217239	3	4	111	1	0	0	0	0	1	0	0	0	10021	768	27	1	3326	1	MTOR	1	11217239	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		11217239	238033382	1	30962											
PLA2G2C	391013	broad.mit.edu	37	chr1	20501534	20501534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacggggatccctttatcccCaagcccacagtagcagccat	8	16	0	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:20501534C>A	ENST00000429261.2	-	2	205	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	PLA2G2C_ENST00000247992.5_Missense_Mutation_p.G52W|PLA2G2C_ENST00000495760.2_5'UTR					phospholipase A2, group IIC											NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTTTATCCCCAAGCCCACAG	0.502													False	0	True	1:20501534	0	A	20501534	C	A	20501534	3	1	111	1	0	0	0	0	1	0	0	0	12065	594	21	3	310	3	PLA2G2C	1	20501534	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	9284295	20501534	228749087	2	30963											
ADPRHL2	54936	broad.mit.edu	37	chr1	36557583	36557583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccatcctgcaggccctgGctgtgcacctggccttgcag	13	16	0	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:36557583G>A	ENST00000373178.4	+	4	619	c.589G>A	c.(589-591)Gct>Act	p.A197T		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	197						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				GCAGGCCCTGGCTGTGCACCT	0.627													False	0	False	1:36557583	0	A	36557583	G	A	36557583	3	1	111	1	0	0	0	0	1	0	0	0	333	1203	42	2	603	2	ADPRHL2	1	36557583	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	16056049	36557583	212693038	3	30964											
MMACHC	25974	broad.mit.edu	37	chr1	45974781	45974781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagcctagttctccctcccCggaccttccctttaccacac	5	19	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:45974781C>A	ENST00000401061.4	+	4	1023	c.743C>A	c.(742-744)cCg>cAg	p.P248Q		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	248							cobalamin binding	p.P248L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCCCTCCCCGGACCTTCCC	0.622													False	0	True	1:45974781	0	A	45974781	C	A	45974781	3	1	111	1	0	0	0	0	1	0	0	0	9708	652	23	3	757	3	MMACHC	1	45974781	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	9417198	45974781	203275840	4	30965											
LRRC7	57554	broad.mit.edu	37	chr1	70488845	70488845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctgggaaaggggccagCgtgggattactctccaacct	12	14	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:70488845C>T	ENST00000310961.5	+	18	1901	c.1483C>T	c.(1483-1485)Cgt>Tgt	p.R495C	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.R490C			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	490						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAGGGGCCAGCGTGGGATTAC	0.542													False	0	False	1:70488845	0	T	70488845	C	T	70488845	3	4	111	1	0	0	0	0	1	0	0	0	9082	768	27	1	1526	1	LRRC7	1	70488845	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	24514064	70488845	178761776	5	30966											
ATXN7L2	127002	broad.mit.edu	37	chr1	110032901	110032901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcctttagttctgcacCtttgggagccggctggtgag	13	10	2	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:110032901C>T	ENST00000369870.3	+	9	1260	c.1245C>T	c.(1243-1245)acC>acT	p.T415T		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	415										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGTTCTGCACCTTTGGGAGCC	0.597											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	1:110032901	0	T	110032901	C	T	110032901	2	4	111	1	0	0	0	0	0	0	0	1	1221	668	24	2		2	ATXN7L2	1	110032901	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	39544056	110032901	139217720	6	30967											
AMPD2	271	broad.mit.edu	37	chr1	110172900	110172900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggcccagatcggcatcGccatgtctccgctcagcaac	9	17	2	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:110172900G>A	ENST00000256578.3	+	16	2551	c.2191G>A	c.(2191-2193)Gcc>Acc	p.A731T	AMPD2_ENST00000528667.1_Missense_Mutation_p.A731T|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.A613T|AMPD2_ENST00000358729.4_Missense_Mutation_p.A656T|AMPD2_ENST00000393688.3_Missense_Mutation_p.A612T|AMPD2_ENST00000342115.4_Missense_Mutation_p.A650T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	731					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GATCGGCATCGCCATGTCTCC	0.652													False	0	False	1:110172900	0	A	110172900	G	A	110172900	3	1	111	1	0	0	0	0	1	0	0	0	586	1087	38	1	2294	1	AMPD2	1	110172900	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	139999	110172900	139077721	7	30968											
DTL	51514	broad.mit.edu	37	chr1	212209261	212209261	+	Missense_Mutation	SNP	C	C	G													caattcggtgctccgccagcCccagcttggcgtcctgagaa							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:212209261C>G	ENST00000366991.4	+	1	343	c.29C>G	c.(28-30)cCc>cGc	p.P10R	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.P10R	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	10					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CTCCGCCAGCCCCAGCTTGGC	0.572													False	0	True	1:212209261	0	G	212209261	C	G	212209261	3	3	111	1	0	0	0	0	1	0	0	0	4817	623	22	5	31	5	DTL	1	212209261	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	102036361	212209261	37041360	8	30969	372	2									
DTL	51514	broad.mit.edu	37	chr1	212209262	212209262	+	Silent	SNP	C	C	G													aattcggtgctccgccagccCcagcttggcgtcctgagaaa							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:212209262C>G	ENST00000366991.4	+	1	344	c.30C>G	c.(28-30)ccC>ccG	p.P10P	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.P10P	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	10					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCCGCCAGCCCCAGCTTGGCG	0.572													False	0	True	1:212209262	0	G	212209262	C	G	212209262	2	3	111	1	0	0	0	0	0	0	0	1	4817	610	22	5		5	DTL	1	212209262	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	1	212209262	37041359	9	30970	372	2									
ESRRG	2104	broad.mit.edu	37	chr1	216680448	216680448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttccatgtgctggccagCttcataatcctgcagcgctt	9	13	2	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:216680448C>A	ENST00000391890.3	-	9	1679	c.1162G>T	c.(1162-1164)Gct>Tct	p.A388S	ESRRG_ENST00000366938.2_Missense_Mutation_p.A381S|ESRRG_ENST00000487276.1_Missense_Mutation_p.A381S|ESRRG_ENST00000366937.1_Missense_Mutation_p.A416S|ESRRG_ENST00000360012.3_Missense_Mutation_p.A381S|ESRRG_ENST00000493748.1_Missense_Mutation_p.A381S|ESRRG_ENST00000408911.3_Missense_Mutation_p.A404S|ESRRG_ENST00000493603.1_Missense_Mutation_p.A381S|ESRRG_ENST00000361525.3_Missense_Mutation_p.A381S|ESRRG_ENST00000361395.2_Missense_Mutation_p.A381S|ESRRG_ENST00000463665.1_Missense_Mutation_p.A342S|ESRRG_ENST00000359162.2_Missense_Mutation_p.A381S|ESRRG_ENST00000366940.2_Missense_Mutation_p.A381S	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	404					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGCTGGCCAGCTTCATAATCC	0.498													False	0	False	1:216680448	0	A	216680448	C	A	216680448	3	1	111	1	0	0	0	0	1	0	0	0	5294	797	28	3	170	3	ESRRG	1	216680448	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	4471186	216680448	32570173	10	30971											
CHML	1122	broad.mit.edu	37	chr1	241797637	241797637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctctgctggaggaactaTcagaatggaagtctgctgat	13	7	3	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:241797637T>C	ENST00000366553.1	-	1	1595	c.1432A>G	c.(1432-1434)Ata>Gta	p.I478V	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	478					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GGAGGAACTATCAGAATGGAA	0.428													False	0	False	1:241797637	0	C	241797637	T	C	241797637	3	2	111	1	0	0	0	0	1	0	0	0	3374	1435	50	4	542	4	CHML	1	241797637	Missense_Mutation	SNP	T	TCGA-IB-AAUN-01A-12D-A38G-08	25117189	241797637	7452984	11	30972											
OR2G2	81470	broad.mit.edu	37	chr1	247752184	247752184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgcccttctgtgggcatCgccaagtggatcatttcatc	10	12	3	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:247752184C>T	ENST00000320065.1	+	1	523	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R175C(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGTGGGCATCGCCAAGTGGA	0.557													False	0	False	1:247752184	0	T	247752184	C	T	247752184	3	4	111	1	0	0	0	0	1	0	0	0	11066	884	31	1	525	1	OR2G2	1	247752184	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	5954547	247752184	1498437	12	30973											
TACR1	6869	broad.mit.edu	37	chr2	75425709	75425709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcatggagtagatactggCgaagacagcggcgatgggaa	16	7	1	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:75425709C>T	ENST00000305249.5	-	1	1117	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGATACTGGCGAAGACAGCG	0.498													False	0	False	2:75425709	0	T	75425709	C	T	75425709	3	4	111	1	0	0	0	0	1	0	0	0	15587	768	27	1	895	1	TACR1	2	75425709	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		75425709	167773664	13	30974											
ANKRD36	375248	broad.mit.edu	37	chr2	97849220	97849220	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagaaacaatcggcctGgaaggtagttactctttcat	8	10	3	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:97849220G>A	ENST00000420699.2	+	27	2106	c.1862G>A	c.(1861-1863)tGg>tAg	p.W621*	ANKRD36_ENST00000461153.2_Nonsense_Mutation_p.W621*	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	621										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CAATCGGCCTGGAAGGTAGTT	0.289													False	0	False	2:97849220	0	A	97849220	G	A	97849220	4	1	111	1	0	0	0	0	0	1	0	0	665	1357	47	2	1968	2	ANKRD36	2	97849220	Nonsense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	22423511	97849220	145350153	14	30975											
INHBB	3625	broad.mit.edu	37	chr2	121106818	121106818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcagccggcggaaggtgCgggtcaaagtgtacttccag	17	9	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:121106818C>T	ENST00000295228.3	+	2	638	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	198					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GCGGAAGGTGCGGGTCAAAGT	0.602													False	0	True	2:121106818	0	T	121106818	C	T	121106818	3	4	111	1	0	0	0	0	1	0	0	0	7792	759	27	1	598	1	INHBB	2	121106818	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	23257598	121106818	122092555	15	30976											
ALS2	57679	broad.mit.edu	37	chr2	202589136	202589136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagaccatgaccatgacGcatattatcttgaaaacagc	7	9	1	5	rs149670991	by1000genomes	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:202589136G>A	ENST00000264276.6	-	21	3766	c.3394C>T	c.(3394-3396)Cgt>Tgt	p.R1132C	ALS2_ENST00000457679.2_Missense_Mutation_p.R444C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1132					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGACCATGACGCATATTATCT	0.413													False	0	False	2:202589136	0	A	202589136	G	A	202589136	3	1	111	1	0	0	0	0	1	0	0	0	550	1087	38	1	1635	1	ALS2	2	202589136	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	81482318	202589136	40610237	16	30977											
SAG	6295	broad.mit.edu	37	chr2	234238171	234238171	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggagcccatccctgtgacCgtgactgtcaccaataacac	10	14	1	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:234238171C>A	ENST00000409110.1	+	9	911	c.681C>A	c.(679-681)acC>acA	p.T227T	SAG_ENST00000449594.2_Silent_p.T93T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	227					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCCCTGTGACCGTGACTGTCA	0.438													False	0	False	2:234238171	0	A	234238171	C	A	234238171	2	1	111	1	0	0	0	0	0	0	0	1	13887	639	23	3		3	SAG	2	234238171	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	31649035	234238171	8961202	17	30978											
FNDC3B	64778	broad.mit.edu	37	chr3	172096148	172096148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccttcagaatccaggcaGcaagcgaggctggagaaggg	14	10	1	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr3:172096148G>A	ENST00000336824.4	+	24	3196	c.3097G>A	c.(3097-3099)Gca>Aca	p.A1033T	FNDC3B_ENST00000415807.2_Missense_Mutation_p.A1033T|FNDC3B_ENST00000416957.1_Missense_Mutation_p.A1033T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1033	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AATCCAGGCAGCAAGCGAGGC	0.483													False	0	False	3:172096148	0	A	172096148	G	A	172096148	3	1	111	1	0	0	0	0	1	0	0	0	6010	971	34	2	3187	2	FNDC3B	3	172096148	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		172096148	25926282	18	30979											
UGT8	7368	broad.mit.edu	37	chr4	115597336	115597336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagaaaaatcaaaagtctGtggtctagaaataagcatag	8	5	3	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr4:115597336G>A	ENST00000310836.6	+	6	2040	c.1518G>A	c.(1516-1518)ctG>ctA	p.L506L	UGT8_ENST00000394511.3_Silent_p.L506L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	506					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TCAAAAGTCTGTGGTCTAGAA	0.353													False	0	False	4:115597336	0	A	115597336	G	A	115597336	2	1	111	1	0	0	0	0	0	0	0	1	17049	1364	48	2		2	UGT8	4	115597336	Silent	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		115597336	75556940	19	30980											
FAT4	79633	broad.mit.edu	37	chr4	126372375	126372375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgatgcaaatgacccaCccatttttactctaaacatc	4	12	1	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr4:126372375C>T	ENST00000394329.3	+	9	10217	c.10204C>T	c.(10204-10206)Ccc>Tcc	p.P3402S	FAT4_ENST00000335110.5_Missense_Mutation_p.P1700S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3402	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGACCCACCCATTTTTAC	0.458													False	0	True	4:126372375	0	T	126372375	C	T	126372375	3	4	111	1	0	0	0	0	1	0	0	0	5732	507	18	2	10238	2	FAT4	4	126372375	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	10775039	126372375	64781901	20	30981											
SLC12A7	10723	broad.mit.edu	37	chr5	1064314	1064314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttgcggaaacgagtcgaCgttcttggccaccagcagag	13	10	1	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:1064314C>T	ENST00000264930.5	-	19	2534	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	831					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AACGAGTCGACGTTCTTGGCC	0.677													False	0	False	5:1064314	0	T	1064314	C	T	1064314	3	4	111	1	0	0	0	0	1	0	0	0	14469	536	19	1	784	1	SLC12A7	5	1064314	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		1064314	179850946	21	30982											
SEPP1	6414	broad.mit.edu	37	chr5	42800957	42800959	+	In_Frame_Del	DEL	CTC	CTC	-													tgacaagattcagttatgttCtcctctgcccgaagtccctg							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:42800957_42800959delCTC	ENST00000514985.1	-	5	1265_1267	c.1009_1011delGAG	c.(1009-1011)gagdel	p.E337del	SEPP1_ENST00000511224.1_In_Frame_Del_p.E337del|SEPP1_ENST00000507920.1_3'UTR|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000506577.1_In_Frame_Del_p.E337del	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	337					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CAGTTATGTTCTCCTCTGCCCGA	0.458													False	2	False	5:42800957	0	-	42800959	CTC	-	42800957	7	5	111	1	0	1	0	1	0	0	0	0	14138	912	32	0	138	0	SEPP1	5	42800957	In_Frame_Del	DEL	CTC	TCGA-IB-AAUN-01A-12D-A38G-08	41736643	42800957	138114303	22	30983											
ITGA2	3673	broad.mit.edu	37	chr5	52360796	52360796	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgagggcattgaaaacactCgatttggttcagcaattgca	10	9	1	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:52360796C>T	ENST00000296585.5	+	14	1800	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	553					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAAAACACTCGATTTGGTTC	0.423													False	0	False	5:52360796	0	T	52360796	C	T	52360796	4	4	111	1	0	0	0	0	0	1	0	0	7925	876	31	1	1711	1	ITGA2	5	52360796	Nonsense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	9559839	52360796	128554464	23	30984											
PCDHA1	0	broad.mit.edu	37	chr5	140167552	140167552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcgtgctggacgagaaCgacaacgcgccggcgctgct	15	12	0	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:140167552C>T	ENST00000504120.2	+	1	1677	c.1677C>T	c.(1675-1677)aaC>aaT	p.N559N	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.N559N	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGAGAACGACAACGCGC	0.672													False	0	False	5:140167552	0	T	140167552	C	T	140167552	2	4	111	1	0	0	0	0	0	0	0	1	11587	535	19	1		1	PCDHA1	5	140167552	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	87806756	140167552	40747708	24	30985											
FGF18	8817	broad.mit.edu	37	chr5	170876235	170876235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctacctgtgcatgaaccGcaaaggcaagctcgtgggga	12	10	1	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:170876235G>A	ENST00000274625.5	+	4	879	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	112					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCATGAACCGCAAAGGCAAG	0.567													False	0	False	5:170876235	0	A	170876235	G	A	170876235	3	1	111	1	0	0	0	0	1	0	0	0	5886	1087	38	1	349	1	FGF18	5	170876235	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	30708683	170876235	10039025	25	30986											
MAPK13	5603	broad.mit.edu	37	chr6	36106684	36106684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggagaagatgctggaGctagacgtggacaagcgcct	15	9	0	3			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr6:36106684G>C	ENST00000211287.4	+	11	1132	c.870G>C	c.(868-870)gaG>gaC	p.E290D	MAPK13_ENST00000373766.5_Missense_Mutation_p.A240P|MAPK13_ENST00000373761.6_Missense_Mutation_p.E280D|MAPK13_ENST00000373759.1_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	290	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AGATGCTGGAGCTAGACGTGG	0.667													False	0	False	6:36106684	0	C	36106684	G	C	36106684	3	2	111	1	0	0	0	0	1	0	0	0	9342	962	34	5	912	5	MAPK13	6	36106684	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		36106684	135008383	26	30987											
HOXA3	3200	broad.mit.edu	37	chr7	27148046	27148046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagagttcagatagccacCggctccggggggcacggggc	16	12	1	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr7:27148046C>T	ENST00000396352.4	-	3	1019	c.820G>A	c.(820-822)Ggt>Agt	p.G274S	HOXA3_ENST00000317201.2_Missense_Mutation_p.G274S|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	274					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGATAGCCACCGGCTCCGGGG	0.627													False	0	False	7:27148046	0	T	27148046	C	T	27148046	3	4	111	1	0	0	0	0	1	0	0	0	7340	652	23	1	515	1	HOXA3	7	27148046	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		27148046	131990617	27	30988											
SCARA5	286133	broad.mit.edu	37	chr8	27737142	27737142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgcggaagccgagcatgCggcacaccacgtctccgtcc	11	18	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:27737142C>T	ENST00000354914.3	-	8	1780	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	SCARA5_ENST00000380385.2_Missense_Mutation_p.R207H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	432	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCGAGCATGCGGCACACCAC	0.642													False	0	False	8:27737142	0	T	27737142	C	T	27737142	3	4	111	1	0	0	0	0	1	0	0	0	13960	768	27	1	200	1	SCARA5	8	27737142	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		27737142	118626880	28	30989											
UNC5D	137970	broad.mit.edu	37	chr8	35608224	35608224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccaatcacagactgtgCcgtgaagcaactgaaggtgg	13	9	1	4			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:35608224C>T	ENST00000287272.2	+	12	1873	c.1853C>T	c.(1852-1854)gCc>gTc	p.A618V	UNC5D_ENST00000416672.1_Missense_Mutation_p.A692V|UNC5D_ENST00000420357.1_Missense_Mutation_p.A620V|UNC5D_ENST00000404895.2_Missense_Mutation_p.A687V|UNC5D_ENST00000453357.2_Missense_Mutation_p.A682V|UNC5D_ENST00000449677.1_Missense_Mutation_p.A263V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	687	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.A682V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGACTGTGCCGTGAAGCAA	0.502													False	0	False	8:35608224	0	T	35608224	C	T	35608224	3	4	111	1	0	0	0	0	1	0	0	0	17079	739	26	2	2110	2	UNC5D	8	35608224	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	7871082	35608224	110755798	29	30990											
KCNQ3	3786	broad.mit.edu	37	chr8	133141815	133141815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggggggagattcggtcCgagtaggggccctgcaggtc	19	10	0	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:133141815C>T	ENST00000388996.4	-	15	2733	c.2313G>A	c.(2311-2313)tcG>tcA	p.S771S	KCNQ3_ENST00000519445.1_Silent_p.S759S|KCNQ3_ENST00000521134.1_Silent_p.S651S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	771					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGATTCGGTCCGAGTAGGGGC	0.607													False	0	False	8:133141815	0	T	133141815	C	T	133141815	2	4	111	1	0	0	0	0	0	0	0	1	8134	639	23	1		1	KCNQ3	8	133141815	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	97533591	133141815	13222207	30	30991											
CBWD1	55871	broad.mit.edu	37	chr9	164038	164038	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaacatagaagccactgcacCtgaaaatatataatattcat	4	8	1	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284													False	0	False	9:164038	0	G	164038	C	G	164038	5	3	111	1	0	0	0	0	0	0	1	0	2732	695	24	5	801	5	CBWD1	9	164038	Splice_Site	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		164038	141049393	31	30992											
KDM4C	23081	broad.mit.edu	37	chr9	6990510	6990510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcttgtgaagcagcaggCgccaagtgatgaaggtgaga	15	7	1	4	rs151291155	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:6990510C>T	ENST00000381309.3	+	12	2337	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	KDM4C_ENST00000428870.2_Missense_Mutation_p.A278V|KDM4C_ENST00000536108.1_Missense_Mutation_p.A410V|KDM4C_ENST00000381306.3_Missense_Mutation_p.A591V|KDM4C_ENST00000535193.1_Missense_Mutation_p.A613V|KDM4C_ENST00000543771.1_Missense_Mutation_p.A591V|KDM4C_ENST00000442236.2_Intron	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	591					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AAGCAGCAGGCGCCAAGTGAT	0.408													False	0	False	9:6990510	0	T	6990510	C	T	6990510	3	4	111	1	0	0	0	0	1	0	0	0	8180	768	27	1	1884	1	KDM4C	9	6990510	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	6826472	6990510	134222921	32	30993											
MLLT3	4300	broad.mit.edu	37	chr9	20414349	20414349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctactgctGctgctgctgctgctgctgct	12	14	0	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:20414349G>A	ENST00000380338.4	-	5	781	c.495C>T	c.(493-495)agC>agT	p.S165S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S162S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	165	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctactgctgctgctgctgc	0.532			T	MLL	ALL								False	0	True	9:20414349	0	A	20414349	G	A	20414349	2	1	111	1	0	0	0	0	0	0	0	1	9695	1310	46	2		2	MLLT3	9	20414349	Silent	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	13423839	20414349	120799082	33	30994											
HABP4	22927	broad.mit.edu	37	chr9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcccgagagggggtatgCgcggcagaggcagaggtggc	22	8	0	3			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	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	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	193					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483													False	0	False	9:99227683	0	T	99227683	C	T	99227683	3	4	111	1	0	0	0	0	1	0	0	0	6986	768	27	1	587	1	HABP4	9	99227683	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	78813334	99227683	41985748	34	30995											
ODF2	4957	broad.mit.edu	37	chr9	131245096	131245096	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgtgttctctcccagcGcctgctgttactgctgcaag	10	14	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:131245096G>A	ENST00000434106.3	+	10	1280	c.917G>A	c.(916-918)cGc>cAc	p.R306H	ODF2_ENST00000372814.3_Splice_Site_p.R350H|ODF2_ENST00000393527.3_Splice_Site_p.R282H|ODF2_ENST00000604420.1_Splice_Site_p.R306H|ODF2_ENST00000546203.1_Splice_Site_p.R287H|ODF2_ENST00000372791.3_Splice_Site_p.R287H|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000393533.2_Splice_Site_p.R306H|ODF2_ENST00000372807.5_Splice_Site_p.R301H|ODF2_ENST00000444119.2_Splice_Site_p.R282H|ODF2_ENST00000448249.3_Splice_Site_p.R225H|ODF2_ENST00000351030.3_Splice_Site_p.R301H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CTCTCCCAGCGCCTGCTGTTA	0.522													False	0	False	9:131245096	0	A	131245096	G	A	131245096	5	1	111	1	0	0	0	0	0	0	1	0	10895	1101	38	1	1006	1	ODF2	9	131245096	Splice_Site	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	32017413	131245096	9968335	35	30996											
HKDC1	80201	broad.mit.edu	37	chr10	71005968	71005968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaagggcaagatcgaaacaCggcacgtggctgccatggag	14	10	0	1	rs148723879		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:71005968C>T	ENST00000354624.5	+	8	1142	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	HKDC1_ENST00000395086.2_Missense_Mutation_p.R337W	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	337					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GATCGAAACACGGCACGTGGC	0.572													False	0	False	10:71005968	0	T	71005968	C	T	71005968	3	4	111	1	0	0	0	0	1	0	0	0	7240	527	19	1	1039	1	HKDC1	10	71005968	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		71005968	64528779	36	30997											
IFIT1	3434	broad.mit.edu	37	chr10	91162577	91162577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatccagcgctgggtatgCgatctctgcctatcgcctgg	12	12	1	1	rs146515241		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:91162577C>T	ENST00000546318.1	+	2	1739	c.452C>T	c.(451-453)gCg>gTg	p.A151V	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.A182V	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	182					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCTGGGTATGCGATCTCTGCC	0.478													False	0	False	10:91162577	0	T	91162577	C	T	91162577	3	4	111	1	0	0	0	0	1	0	0	0	7571	768	27	1	551	1	IFIT1	10	91162577	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	20156609	91162577	44372170	37	30998											
SLIT1	6585	broad.mit.edu	37	chr10	98762035	98762035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggctctgccagggcccCggcctggttgcacagtgccc	15	16	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:98762035C>T	ENST00000266058.4	-	36	4491	c.4246G>A	c.(4246-4248)Ggg>Agg	p.G1416R	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Intron	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1416					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCCAGGGCCCCGGCCTGGTTG	0.662													False	0	True	10:98762035	0	T	98762035	C	T	98762035	3	4	111	1	0	0	0	0	1	0	0	0	14819	652	23	1	366	1	SLIT1	10	98762035	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	7599458	98762035	36772712	38	30999											
SHOC2	8036	broad.mit.edu	37	chr10	112724158	112724158	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagactctaaagaaaaAgatcccaaagtaccatcagc	6	9	2	3			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:112724158A>G	ENST00000369452.4	+	2	387	c.42A>G	c.(40-42)aaA>aaG	p.K14K	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Silent_p.K14K	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	14					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CTAAAGAAAAAGATCCCAAAG	0.383													False	0	True	10:112724158	0	G	112724158	A	G	112724158	2	3	111	1	0	0	0	0	0	0	0	1	14368	69	3	4		4	SHOC2	10	112724158	Silent	SNP	A	TCGA-IB-AAUN-01A-12D-A38G-08	13962123	112724158	22810589	39	31000											
TDRD1	56165	broad.mit.edu	37	chr10	115970681	115970681	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcagttgcctccacgctctGatttttatccagccattggt	7	12	2	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:115970681G>T	ENST00000251864.2	+	13	1768	c.1615G>T	c.(1615-1617)Gat>Tat	p.D539Y	TDRD1_ENST00000422662.1_Missense_Mutation_p.D200Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D539Y|TDRD1_ENST00000369280.1_Missense_Mutation_p.D539Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D539Y	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	539					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCCACGCTCTGATTTTTATCC	0.348													False	0	False	10:115970681	0	T	115970681	G	T	115970681	3	4	111	1	0	0	0	0	1	0	0	0	15812	1290	45	3	1661	3	TDRD1	10	115970681	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	3246523	115970681	19564066	40	31001											
GFRA1	2674	broad.mit.edu	37	chr10	118030528	118030528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgcactgccttagcgtgCggtacttggtgctgcagctc	12	14	0	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:118030528C>T	ENST00000439649.3	-	3	507	c.140G>A	c.(139-141)cGc>cAc	p.R47H	GFRA1_ENST00000369236.1_Missense_Mutation_p.R47H|GFRA1_ENST00000355422.6_Missense_Mutation_p.R47H	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	47					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCTTAGCGTGCGGTACTTGGT	0.637													False	0	False	10:118030528	0	T	118030528	C	T	118030528	3	4	111	1	0	0	0	0	1	0	0	0	6392	768	27	1	1293	1	GFRA1	10	118030528	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	2059847	118030528	17504219	41	31002											
HINFP	25988	broad.mit.edu	37	chr11	119004822	119004822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatgaagatggctatatgCggctgcagctggttcgctac	12	9	0	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:119004822C>T	ENST00000350777.2	+	10	1231	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	HINFP_ENST00000527410.1_Silent_p.C410C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	390	Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	p.R390W(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGGCTATATGCGGCTGCAGCT	0.567											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:119004822	0	T	119004822	C	T	119004822	3	4	111	1	0	0	0	0	1	0	0	0	7157	759	27	1	1202	1	HINFP	11	119004822	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		119004822	16001694	42	31003											
OR10G7	390265	broad.mit.edu	37	chr11	123909404	123909404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctccccaggaagtggaaaAaatagagctgagccacgcag	12	10	0	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:123909404A>G	ENST00000330487.5	-	1	313	c.305T>C	c.(304-306)tTt>tCt	p.F102S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAAGTGGAAAAAATAGAGCTG	0.532													False	0	True	11:123909404	0	G	123909404	A	G	123909404	3	3	111	1	0	0	0	0	1	0	0	0	10970	14	1	4	634	4	OR10G7	11	123909404	Missense_Mutation	SNP	A	TCGA-IB-AAUN-01A-12D-A38G-08	4904582	123909404	11097112	43	31004											
GRIN2B	2904	broad.mit.edu	37	chr12	13717418	13717418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagtccagggcgctctgCggtgagccattcacaccaga	12	12	2	3			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:13717418C>T	ENST00000609686.1	-	13	2963	c.2754G>A	c.(2752-2754)ccG>ccA	p.P918P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P918P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGCGCTCTGCGGTGAGCCAT	0.572													False	0	False	12:13717418	0	T	13717418	C	T	13717418	2	4	111	1	0	0	0	0	0	0	0	1	6827	755	27	1		1	GRIN2B	12	13717418	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		13717418	120134477	44	31005											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	111	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	11680866	25398284	108453611	45	31006											
ASB8	0	broad.mit.edu	37	chr12	48543613	48543613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctctctaggagagcccGcacacactcagcattgttct	8	16	3	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:48543613G>A	ENST00000317697.3	-	4	572	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.R135W|ASB8_ENST00000535055.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	135					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						AGGAGAGCCCGCACACACTCA	0.527													False	0	True	12:48543613	0	A	48543613	G	A	48543613	3	1	111	1	0	0	0	0	1	0	0	0	1033	1086	38	1	467	1	ASB8	12	48543613	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	23145329	48543613	85308282	46	31007											
BCL7A	605	broad.mit.edu	37	chr12	122492809	122492809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagactcgggtctggccGcagagacgtctgcaatctct	13	12	3	2	rs148056282		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:122492809G>A	ENST00000538010.1	+	5	3208	c.538G>A	c.(538-540)Gca>Aca	p.A180T	BCL7A_ENST00000261822.4_Missense_Mutation_p.A180T	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	180					negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GGGTCTGGCCGCAGAGACGTC	0.567			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:122492809	0	A	122492809	G	A	122492809	3	1	111	1	0	0	0	0	1	0	0	0	1382	1087	38	1	556	1	BCL7A	12	122492809	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	73949196	122492809	11359086	47	31008											
TPTE2	93492	broad.mit.edu	37	chr13	20006615	20006615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacataaagcacttaccaCgaatcgaataaataatgaat	4	8	0	1	rs140778301		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr13:20006615C>T	ENST00000400230.2	-	16	1264	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	TPTE2_ENST00000390680.2_Missense_Mutation_p.R330H|TPTE2_ENST00000457266.2_Missense_Mutation_p.R296H|TPTE2_ENST00000382978.1_Missense_Mutation_p.R367H|TPTE2_ENST00000382977.4_Missense_Mutation_p.R407H|TPTE2_ENST00000382975.4_Missense_Mutation_p.R367H|TPTE2_ENST00000400103.2_Missense_Mutation_p.R296H|TPTE2_ENST00000255310.6_Missense_Mutation_p.R330H			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	407	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCACTTACCACGAATCGAATA	0.393													False	0	True	13:20006615	0	T	20006615	C	T	20006615	3	4	111	1	0	0	0	0	1	0	0	0	16514	536	19	1	368	1	TPTE2	13	20006615	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		20006615	95163263	48	31009											
CCNA1	8900	broad.mit.edu	37	chr13	37012789	37012789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcccaatcagataaggcaCagacccaaagcacactacat	5	13	1	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr13:37012789C>T	ENST00000418263.1	+	5	1025	c.675C>T	c.(673-675)caC>caT	p.H225H	CCNA1_ENST00000449823.1_Silent_p.H182H|CCNA1_ENST00000255465.4_Silent_p.H226H|CCNA1_ENST00000440264.1_Silent_p.H182H	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	226					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGATAAGGCACAGACCCAAAG	0.418													False	0	False	13:37012789	0	T	37012789	C	T	37012789	2	4	111	1	0	0	0	0	0	0	0	1	2932	477	17	2		2	CCNA1	13	37012789	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	17006174	37012789	78157089	49	31010											
KIAA0586	9786	broad.mit.edu	37	chr14	58915077	58915077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcattttattagtgctgCactcaagactagtagttttc	7	8	2	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:58915077C>T	ENST00000423743.3	+	8	953	c.695C>T	c.(694-696)gCa>gTa	p.A232V	KIAA0586_ENST00000261244.5_Missense_Mutation_p.A276V|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Missense_Mutation_p.A261V|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A329V	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	276										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTAGTGCTGCACTCAAGACT	0.328													False	0	False	14:58915077	0	T	58915077	C	T	58915077	3	4	111	1	0	0	0	0	1	0	0	0	8236	710	25	2	853	2	KIAA0586	14	58915077	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		58915077	48434463	50	31011											
INF2	64423	broad.mit.edu	37	chr14	105180688	105180689	+	Frame_Shift_Ins	INS	-	-	T													ctcagcccaccctggagcagINSttggaggagggtggtccacg							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:105180688_105180689insT	ENST00000392634.4	+	21	3301_3302	c.3189_3190insT	c.(3190-3192)ttgfs	p.L1064fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.L1064fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1064					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCCTGGAGCAGTTGGAGGAGGG	0.663													False	2	False	14:105180688	0	T	105180689	-	T	105180688	7	5	111	1	0	1	1	0	0	0	0	0	7784	1020	36	0	3271	0	INF2	14	105180688	Frame_Shift_Ins	INS	-	TCGA-IB-AAUN-01A-12D-A38G-08	46265611	105180688	2168852	51	31012											
TMEM87A	25963	broad.mit.edu	37	chr15	42520944	42520944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagcgtgttggtgaaatgCcgatacaaagagagttttac	11	5	0	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:42520944C>T	ENST00000389834.4	-	13	1470	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R	TMEM87A_ENST00000448392.1_Silent_p.R341R	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	402						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TGGTGAAATGCCGATACAAAG	0.383													False	0	False	15:42520944	0	T	42520944	C	T	42520944	2	4	111	1	0	0	0	0	0	0	0	1	16292	726	26	2		2	TMEM87A	15	42520944	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		42520944	60010448	52	31013											
MYO5C	55930	broad.mit.edu	37	chr15	52536564	52536564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacatacctcacagtttgCtgaccccggaagtactgctg	8	14	1	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:52536564C>T	ENST00000261839.7	-	19	2540	c.2379G>A	c.(2377-2379)caG>caA	p.Q793Q	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	793	IQ 2.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCACAGTTTGCTGACCCCGGA	0.527													False	0	False	15:52536564	0	T	52536564	C	T	52536564	2	4	111	1	0	0	0	0	0	0	0	1	10147	796	28	2		2	MYO5C	15	52536564	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	10015620	52536564	49994828	53	31014											
RAB27A	5873	broad.mit.edu	37	chr15	55497880	55497880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgtttgtcccattggcaGcactagtttcaaagtagggg	11	7	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:55497880G>A	ENST00000396307.2	-	6	742	c.491C>T	c.(490-492)gCt>gTt	p.A164V	RAB27A_ENST00000569493.1_Missense_Mutation_p.A164V|RAB27A_ENST00000564609.1_Missense_Mutation_p.A164V|RAB27A_ENST00000336787.1_Missense_Mutation_p.A164V	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	164					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		CCCATTGGCAGCACTAGTTTC	0.443													False	0	False	15:55497880	0	A	55497880	G	A	55497880	3	1	111	1	0	0	0	0	1	0	0	0	12993	971	34	2	178	2	RAB27A	15	55497880	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	2961316	55497880	47033512	54	31015											
CBFB	865	broad.mit.edu	37	chr16	67070587	67070587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctctccagttttttccgGccagctggcagggagaacag	12	11	1	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr16:67070587G>A	ENST00000290858.6	+	3	472	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	CBFB_ENST00000412916.2_Missense_Mutation_p.A71T|CBFB_ENST00000561924.2_5'UTR	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	71					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GTTTTTTCCGGCCAGCTGGCA	0.423			T	MYH11	AML								False	0	False	16:67070587	0	A	67070587	G	A	67070587	3	1	111	1	0	0	0	0	1	0	0	0	2719	1203	42	2	221	2	CBFB	16	67070587	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		67070587	23284166	55	31016											
BANP	54971	broad.mit.edu	37	chr16	88061097	88061097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccttccaggtcaccttTtctataaatttggcatcaca	6	11	3	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr16:88061097T>C	ENST00000393207.1	+	8	1101	c.880T>C	c.(880-882)Ttc>Ctc	p.F294L	BANP_ENST00000355163.5_Missense_Mutation_p.F269L|BANP_ENST00000479780.2_Missense_Mutation_p.F263L|BANP_ENST00000286122.7_Missense_Mutation_p.F294L|BANP_ENST00000538234.1_Missense_Mutation_p.F302L|BANP_ENST00000355022.4_Missense_Mutation_p.F263L|BANP_ENST00000393208.2_Missense_Mutation_p.F263L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	294	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AGGTCACCTTTTCTATAAATT	0.617													False	0	True	16:88061097	0	C	88061097	T	C	88061097	3	2	111	1	0	0	0	0	1	0	0	0	1314	1841	64	4	948	4	BANP	16	88061097	Missense_Mutation	SNP	T	TCGA-IB-AAUN-01A-12D-A38G-08	20990510	88061097	2293656	56	31017											
TP53	7157	broad.mit.edu	37	chr17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcggaacatctcgaagcGctcacgcccacggatctgca	9	16	4	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000359597.4_Intron	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	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTCGAAGCGCTCACGCCCA	0.522		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)			False	0	False	17:7574018	0	A	7574018	G	A	7574018	3	1	111	1	0	0	0	0	1	0	0	0	16464	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		7574018	73621192	57	31018											
MYH2	4620	broad.mit.edu	37	chr17	10436865	10436865	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactgggtgtggtcaatgtcGatggatgcaaggagcttctc	14	7	2	0	rs146411264		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:10436865G>A	ENST00000245503.5	-	20	2649	c.2265C>T	c.(2263-2265)atC>atT	p.I755I	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.I755I|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	755	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGTCAATGTCGATGGATGCAA	0.403													False	0	True	17:10436865	0	A	10436865	G	A	10436865	2	1	111	1	0	0	0	0	0	0	0	1	10102	1048	37	1		1	MYH2	17	10436865	Silent	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	2862847	10436865	70758345	58	31019											
DBF4B	80174	broad.mit.edu	37	chr17	42828492	42828492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccccgaacctcacatccGtgtacccttgccttcccctc	4	20	1	0	rs148114647	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:42828492G>A	ENST00000315005.3	+	14	1857	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	573					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTCACATCCGTGTACCCTTG	0.547													False	0	False	17:42828492	0	A	42828492	G	A	42828492	2	1	111	1	0	0	0	0	0	0	0	1	4274	1132	40	1		1	DBF4B	17	42828492	Silent	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	32391627	42828492	38366718	59	31020											
LRRC30	339291	broad.mit.edu	37	chr18	7231664	7231664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcaacaacttcttcgcGcacatccccatgtgtgtgtt	7	14	2	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:7231664G>A	ENST00000383467.2	+	1	542	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	176								p.A176A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTTCTTCGCGCACATCCCCA	0.552													False	0	False	18:7231664	0	A	7231664	G	A	7231664	2	1	111	1	0	0	0	0	0	0	0	1	9047	1074	38	1		1	LRRC30	18	7231664	Silent	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		7231664	70845584	60	31021											
MBD1	4152	broad.mit.edu	37	chr18	47797907	47797914	+	Splice_Site	DEL	GGACCTAG	GGACCTAG	-													ccaggttttttaaggtctttGgacctagggaaaagggagca							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	GGACCTAG	GGACCTAG	-	-	GGACCTAG	GGACCTAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:47797907_47797914delGGACCTAG	ENST00000591416.1	-	16	2210_2213	c.1779_1782delCTAGGTCC	c.(1777-1782)agctag>ag	p.S*593fs	MBD1_ENST00000590208.1_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000269468.5_Splice_Site_p.S*593fs|MBD1_ENST00000585595.1_Splice_Site_p.S*618fs|MBD1_ENST00000347968.3_Splice_Site_p.S*537fs|MBD1_ENST00000398488.1_Splice_Site_p.S*491fs|MBD1_ENST00000398495.2_Splice_Site_p.S*554fs|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000398493.1_Splice_Site_p.S*537fs|MBD1_ENST00000457839.2_Splice_Site_p.S*618fs|MBD1_ENST00000353909.3_Splice_Site_p.S*544fs|MBD1_ENST00000591535.1_Splice_Site_p.S*524fs|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000349085.2_Splice_Site_p.S*491fs|MBD1_ENST00000424334.2_Splice_Site_p.S*644fs|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000382948.5_Splice_Site_p.S*593fs|MBD1_ENST00000436910.1_Splice_Site_p.S*524fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	593					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TAAGGTCTTTGGACCTAGGGAAAAGGGA	0.442													False	1	False	18:47797907	0	-	47797914	GGACCTAG	-	47797907	8	5	111	1	0	1	0	1	0	0	1	0	9409	1335	47	0	233	0	MBD1	18	47797907	Splice_Site	DEL	GGACCTAG	TCGA-IB-AAUN-01A-12D-A38G-08	40566243	47797907	30279341	61	31022											
TCF4	6925	broad.mit.edu	37	chr18	52899813	52899813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcctccgaagatttcgTgtcttgcaggttctcatcac	8	12	3	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:52899813T>C	ENST00000354452.3	-	17	2187	c.1576A>G	c.(1576-1578)Acg>Gcg	p.T526A	TCF4_ENST00000544241.2_Missense_Mutation_p.T455A|TCF4_ENST00000561831.3_Missense_Mutation_p.T366A|TCF4_ENST00000457482.3_Missense_Mutation_p.T366A|TCF4_ENST00000565018.2_Missense_Mutation_p.T526A|TCF4_ENST00000561992.1_Missense_Mutation_p.T396A|TCF4_ENST00000564403.2_Missense_Mutation_p.T532A|TCF4_ENST00000564999.1_Missense_Mutation_p.T526A|TCF4_ENST00000540999.1_Missense_Mutation_p.T502A|TCF4_ENST00000570177.2_Missense_Mutation_p.T396A|TCF4_ENST00000570287.2_Missense_Mutation_p.T366A|TCF4_ENST00000543082.1_Missense_Mutation_p.T484A|TCF4_ENST00000537578.1_Missense_Mutation_p.T502A|TCF4_ENST00000564228.1_Missense_Mutation_p.T455A|TCF4_ENST00000566279.1_Missense_Mutation_p.T466A|TCF4_ENST00000567880.1_Missense_Mutation_p.T466A|TCF4_ENST00000356073.4_Missense_Mutation_p.T526A|TCF4_ENST00000568673.1_Missense_Mutation_p.T502A|TCF4_ENST00000537856.3_Missense_Mutation_p.T396A|TCF4_ENST00000566286.1_Missense_Mutation_p.T523A|TCF4_ENST00000568740.1_Missense_Mutation_p.T501A|TCF4_ENST00000398339.1_Missense_Mutation_p.T628A	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	526					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAAGATTTCGTGTCTTGCAGG	0.453													False	0	False	18:52899813	0	C	52899813	T	C	52899813	3	2	111	1	0	0	0	0	1	0	0	0	15777	1696	59	4	451	4	TCF4	18	52899813	Missense_Mutation	SNP	T	TCGA-IB-AAUN-01A-12D-A38G-08	5101906	52899813	25177435	62	31023											
ACPT	93650	broad.mit.edu	37	chr19	51298323	51298323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtgcccctgctggccGgagctgtagctgtgctggtg	17	11	0	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:51298323G>A	ENST00000270593.1	+	11	1189	c.1189G>A	c.(1189-1191)Gga>Aga	p.G397R	ACPT_ENST00000270594.3_Missense_Mutation_p.G304R	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	397						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTGCTGGCCGGAGCTGTAGC	0.677													False	0	False	19:51298323	0	A	51298323	G	A	51298323	3	1	111	1	0	0	0	0	1	0	0	0	168	1117	39	1	1231	1	ACPT	19	51298323	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		51298323	7830660	63	31024											
PEG3	5178	broad.mit.edu	37	chr19	57328906	57328906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcttcacaaatcccccGccggtgggttgattttttgg	9	11	3	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:57328906G>A	ENST00000326441.9	-	10	1267	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R178W|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R302W|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R176W	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	302					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAAATCCCCCGCCGGTGGGTT	0.458													False	0	True	19:57328906	0	A	57328906	G	A	57328906	3	1	111	1	0	0	0	0	1	0	0	0	11788	1086	38	1	3866	1	PEG3	19	57328906	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	6030583	57328906	1800077	64	31025											
ZNF548	147694	broad.mit.edu	37	chr19	57910947	57910947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaatgcgggaaattctttcGttacaactccaacctcatta	6	11	2	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:57910947G>A	ENST00000366197.5	+	3	1542	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R443H|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAATTCTTTCGTTACAACTCC	0.463													False	0	False	19:57910947	0	A	57910947	G	A	57910947	3	1	111	1	0	0	0	0	1	0	0	0	18063	1145	40	1	1342	1	ZNF548	19	57910947	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	582041	57910947	1218036	65	31026											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596116	58596116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctctgggggaccgcccGccctagcccccgcctgggct	13	20	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:58596116G>A	ENST00000240727.6	-	7	1868	c.1469C>T	c.(1468-1470)gCg>gTg	p.A490V	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A490V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A546V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A354V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	490					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGACCGCCCGCCCTAGCCCC	0.741													False	0	True	19:58596116	0	A	58596116	G	A	58596116	3	1	111	1	0	0	0	0	1	0	0	0	18312	1087	38	1	67	1	ZSCAN18	19	58596116	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	685169	58596116	532867	66	31027											
PMEPA1	56937	broad.mit.edu	37	chr20	56234669	56234669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaccgtgcagacagcttgTagtggctcagcaggcacgtg	15	10	1	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr20:56234669T>C	ENST00000341744.3	-	2	513	c.194A>G	c.(193-195)tAc>tGc	p.Y65C	PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y15C|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y30C|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y15C|PMEPA1_ENST00000472841.1_5'UTR|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y15C	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	65					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGACAGCTTGTAGTGGCTCAG	0.577													False	0	False	20:56234669	0	C	56234669	T	C	56234669	3	2	111	1	0	0	0	0	1	0	0	0	12201	1638	57	4	681	4	PMEPA1	20	56234669	Missense_Mutation	SNP	T	TCGA-IB-AAUN-01A-12D-A38G-08		56234669	6790851	67	31028											
CSF2RB	1439	broad.mit.edu	37	chr22	37326748	37326748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccagtgctgagggagggGctcggcagcctccacaccag	14	15	0	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr22:37326748G>A	ENST00000262825.5	+	8	1123	c.906G>A	c.(904-906)ggG>ggA	p.G302G	CSF2RB_ENST00000403662.3_Silent_p.G296G|CSF2RB_ENST00000536485.1_Silent_p.G243G|CSF2RB_ENST00000406230.1_Silent_p.G302G	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	296					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGAGGGAGGGGCTCGGCAGCC	0.657													False	0	True	22:37326748	0	A	37326748	G	A	37326748	2	1	111	1	0	0	0	0	0	0	0	1	3960	1190	42	2		2	CSF2RB	22	37326748	Silent	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		37326748	13977818	68	31029											
TTLL12	23170	broad.mit.edu	37	chr22	43575882	43575882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaggggccacagcagcGtgtaggccacctgctgcggc	14	16	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr22:43575882G>A	ENST00000216129.6	-	4	734	c.671C>T	c.(670-672)aCg>aTg	p.T224M		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	224					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCACAGCAGCGTGTAGGCCAC	0.657													False	0	False	22:43575882	0	A	43575882	G	A	43575882	3	1	111	1	0	0	0	0	1	0	0	0	16809	1145	40	1	1307	1	TTLL12	22	43575882	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	6249134	43575882	7728684	69	31030											
ATRX	546	broad.mit.edu	37	chrX	76938955	76938955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatcagcacctttaattgggGaattagaaagggaaacagga	11	5	1	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chrX:76938955G>A	ENST00000373344.5	-	9	2007	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S560F	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	598					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTAATTGGGGAATTAGAAAG	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						False	0	True	X:76938955	0	A	76938955	G	A	76938955	3	1	111	1	0	0	0	0	1	0	0	0	1212	1174	41	2	5793	2	ATRX	23	76938955	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		76938955	78331605	70	31031											
SLC10A3	8273	broad.mit.edu	37	chrX	153717321	153717321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtgcccaggccctctgcGgcttaggagaacatccccac	12	16	1	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chrX:153717321G>A	ENST00000393586.1	-	3	221	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	SLC10A3_ENST00000393587.4_5'UTR|SLC10A3_ENST00000369649.4_5'UTR|SLC10A3_ENST00000263512.4_5'UTR			P09131	P3_HUMAN	solute carrier family 10, member 3	0					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCTCTGCGGCTTAGGAGA	0.622													False	0	False	X:153717321	0	A	153717321	G	A	153717321	3	1	111	1	0	0	0	0	1	0	0	0	14456	1131	39	1		1	SLC10A3	23	153717321	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	76778366	153717321	1553239	71	31032											
CLCNKB	1188	broad.mit.edu	37	chr1	16374889	16374889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctacctgggccgtgtgCgcaccacgaccatcggggag	14	15	0	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:16374889C>T	ENST00000375679.4	+	6	661	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCGTGTGCGCACCACGAC	0.662													False	0	False	1:16374889	0	T	16374889	C	T	16374889	3	4	112	1	0	0	0	0	1	0	0	0	3493	768	27	1	568	1	CLCNKB	1	16374889	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08		16374889	232875732	1	31033											
EXTL1	2134	broad.mit.edu	37	chr1	26359784	26359784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctcagcctcgatgcccGcagcagtctttccacaagtg	8	16	2	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:26359784G>A	ENST00000374280.3	+	8	2363	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	499					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGATGCCCGCAGCAGTCTT	0.597													False	0	True	1:26359784	0	A	26359784	G	A	26359784	3	1	112	1	0	0	0	0	1	0	0	0	5358	1087	38	1	1526	1	EXTL1	1	26359784	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	9984895	26359784	222890837	2	31034											
OPRD1	4985	broad.mit.edu	37	chr1	29185499	29185499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacggccaccaacatctaCatcttcaacctggccttagc	6	15	3	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:29185499C>T	ENST00000234961.2	+	2	503	c.261C>T	c.(259-261)taC>taT	p.Y87Y		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	87					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CCAACATCTACATCTTCAACC	0.493													False	0	True	1:29185499	0	T	29185499	C	T	29185499	2	4	112	1	0	0	0	0	0	0	0	1	10952	489	17	2		2	OPRD1	1	29185499	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	2825715	29185499	220065122	3	31035											
FOXJ3	22887	broad.mit.edu	37	chr1	42693584	42693584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgtgccctcttctttggCcgagtaggcagcacatcttc	10	13	3	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:42693584C>T	ENST00000372572.1	-	7	809	c.498G>A	c.(496-498)cgG>cgA	p.R166R	FOXJ3_ENST00000372573.1_Silent_p.R166R|FOXJ3_ENST00000361346.1_Silent_p.R166R|FOXJ3_ENST00000361776.1_Silent_p.R166R|FOXJ3_ENST00000545068.1_Silent_p.R166R	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	166					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCTTCTTTGGCCGAGTAGGCA	0.388													False	0	False	1:42693584	0	T	42693584	C	T	42693584	2	4	112	1	0	0	0	0	0	0	0	1	6055	726	26	2		2	FOXJ3	1	42693584	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	13508085	42693584	206557037	4	31036											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150530955	150530955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgccccctcagtgctccGtgcggtgcggccggggccag	15	18	1	0	rs138636937		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:150530955G>A	ENST00000271643.4	+	15	2625	c.2389G>A	c.(2389-2391)Gtg>Atg	p.V797M	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.V797M|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.V820M|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.V797M	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	797	TSP type-1 3.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCAGTGCTCCGTGCGGTGCGG	0.647													False	0	True	1:150530955	0	A	150530955	G	A	150530955	3	1	112	1	0	0	0	0	1	0	0	0	277	1145	40	1	2439	1	ADAMTSL4	1	150530955	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	107837371	150530955	98719666	5	31037											
TDRD5	163589	broad.mit.edu	37	chr1	179604922	179604922	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagacaccagttccctcataGgggtctttgtggagtatatc	10	9	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:179604922G>T	ENST00000444136.1	+	9	1670	c.1420G>T	c.(1420-1422)Ggg>Tgg	p.G474W	TDRD5_ENST00000294848.8_Missense_Mutation_p.G474W|TDRD5_ENST00000367614.1_Missense_Mutation_p.G474W	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	474					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTCCCTCATAGGGGTCTTTGT	0.463													False	0	True	1:179604922	0	T	179604922	G	T	179604922	3	4	112	1	0	0	0	0	1	0	0	0	15815	1000	35	3	1450	3	TDRD5	1	179604922	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	29073967	179604922	69645699	6	31038											
PLXNA2	5362	broad.mit.edu	37	chr1	208276511	208276511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgttgtgcagggcacaccAgccacagtgagggtccccag	13	13	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:208276511A>G	ENST00000367033.3	-	5	2345	c.1588T>C	c.(1588-1590)Tgg>Cgg	p.W530R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	530					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGGCACACCAGCCACAGTGA	0.547													False	0	False	1:208276511	0	G	208276511	A	G	208276511	3	3	112	1	0	0	0	0	1	0	0	0	12189	188	7	4	4208	4	PLXNA2	1	208276511	Missense_Mutation	SNP	A	TCGA-IB-AAUO-01A-12D-A38G-08	28671589	208276511	40974110	7	31039											
GREB1	9687	broad.mit.edu	37	chr2	11780565	11780565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgctcttttttctgacGggacgacacatctgaggaag	12	11	3	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:11780565G>A	ENST00000381486.2	+	33	6135	c.5835G>A	c.(5833-5835)acG>acA	p.T1945T	GREB1_ENST00000396123.1_Silent_p.T943T|GREB1_ENST00000234142.5_Silent_p.T1945T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1945						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTTTTCTGACGGGACGACACA	0.607													False	0	True	2:11780565	0	A	11780565	G	A	11780565	2	1	112	1	0	0	0	0	0	0	0	1	6807	1103	39	1		1	GREB1	2	11780565	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		11780565	231418808	8	31040											
PREPL	9581	broad.mit.edu	37	chr2	44586652	44586652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccttacatgagaagctcCgacttgggatgtttcttgct	9	9	1	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:44586652C>T	ENST00000409936.1	-	2	640	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	PREPL_ENST00000409957.1_Intron|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000378520.3_Missense_Mutation_p.R68Q|PREPL_ENST00000378511.3_Missense_Mutation_p.R68Q|PREPL_ENST00000409272.1_Missense_Mutation_p.R68Q|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000260648.6_Missense_Mutation_p.R68Q|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000410081.1_Missense_Mutation_p.R68Q	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	68					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGAGAAGCTCCGACTTGGGAT	0.308													False	0	False	2:44586652	0	T	44586652	C	T	44586652	3	4	112	1	0	0	0	0	1	0	0	0	12551	652	23	1	2036	1	PREPL	2	44586652	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	32806087	44586652	198612721	9	31041											
BCL11A	53335	broad.mit.edu	37	chr2	60688929	60688929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatgacttggacttgaccGggggctgggagggaggaggg	21	7	0	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:60688929G>A	ENST00000335712.6	-	4	1345	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.P373L|BCL11A_ENST00000538214.1_Missense_Mutation_p.P339L|BCL11A_ENST00000358510.4_Missense_Mutation_p.P339L	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	373	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGACTTGACCGGGGGCTGGGA	0.627			T	IGH@	B-CLL								False	0	True	2:60688929	0	A	60688929	G	A	60688929	3	1	112	1	0	0	0	0	1	0	0	0	1367	1116	39	1	1499	1	BCL11A	2	60688929	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	16102277	60688929	182510444	10	31042											
DYSF	8291	broad.mit.edu	37	chr2	71742844	71742844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggcagaccaagcggaCgcggatccacaagggaaaca	14	11	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:71742844C>T	ENST00000258104.3	+	7	1032	c.755C>T	c.(754-756)aCg>aTg	p.T252M	DYSF_ENST00000409366.1_Missense_Mutation_p.T253M|DYSF_ENST00000409762.1_Missense_Mutation_p.T283M|DYSF_ENST00000409651.1_Missense_Mutation_p.T284M|DYSF_ENST00000410041.1_Missense_Mutation_p.T284M|DYSF_ENST00000429174.2_Missense_Mutation_p.T252M|DYSF_ENST00000413539.2_Missense_Mutation_p.T283M|DYSF_ENST00000394120.2_Missense_Mutation_p.T253M|DYSF_ENST00000410020.3_Missense_Mutation_p.T284M|DYSF_ENST00000409744.1_Missense_Mutation_p.T253M|DYSF_ENST00000409582.3_Missense_Mutation_p.T283M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	252	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCAAGCGGACGCGGATCCAC	0.612													False	0	False	2:71742844	0	T	71742844	C	T	71742844	3	4	112	1	0	0	0	0	1	0	0	0	4889	536	19	1	973	1	DYSF	2	71742844	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	11053915	71742844	171456529	11	31043											
CTNNA2	1496	broad.mit.edu	37	chr2	79971679	79971679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatctcaaagaagagttggTggctgctgtagaggatgtgc	15	5	1	4			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:79971679T>G	ENST00000466387.1	+	7	993	c.269T>G	c.(268-270)gTg>gGg	p.V90G	CTNNA2_ENST00000496558.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V90G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V124G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V90G			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	90					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAGAGTTGGTGGCTGCTGTA	0.443													False	0	False	2:79971679	0	G	79971679	T	G	79971679	3	3	112	1	0	0	0	0	1	0	0	0	4038	1696	59	4	275	4	CTNNA2	2	79971679	Missense_Mutation	SNP	T	TCGA-IB-AAUO-01A-12D-A38G-08	8228835	79971679	163227694	12	31044											
IL1RL2	8808	broad.mit.edu	37	chr2	102851439	102851439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaatcgctgggctttggCctgttgaagaacctgtcaga	12	11	1	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:102851439C>T	ENST00000264257.2	+	11	1506	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	IL1RL2_ENST00000539491.1_Silent_p.G460G|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.G342G	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	460	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGGGCTTTGGCCTGTTGAAGA	0.488													False	0	False	2:102851439	0	T	102851439	C	T	102851439	2	4	112	1	0	0	0	0	0	0	0	1	7714	726	26	2		2	IL1RL2	2	102851439	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	22879760	102851439	140347934	13	31045											
ZDBF2	57683	broad.mit.edu	37	chr2	207171284	207171284	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggctgatgctcaattagctGaccagtctcaagtagccgaa	10	10	2	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:207171284G>T	ENST00000374423.3	+	5	2418	c.2032G>T	c.(2032-2034)Gac>Tac	p.D678Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	678							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAATTAGCTGACCAGTCTCA	0.428													False	0	False	2:207171284	0	T	207171284	G	T	207171284	3	4	112	1	0	0	0	0	1	0	0	0	17682	1290	45	3	2042	3	ZDBF2	2	207171284	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	104319845	207171284	36028089	14	31046											
ASB18	401036	broad.mit.edu	37	chr2	237172977	237172977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtagtcgggaaggtaatcCgagttggacattgttacgtc	15	6	0	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:237172977C>T	ENST00000409749.3	-	1	11	c.12G>A	c.(10-12)tcG>tcA	p.S4S	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	4					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GAAGGTAATCCGAGTTGGACA	0.493													False	0	False	2:237172977	0	T	237172977	C	T	237172977	2	4	112	1	0	0	0	0	0	0	0	1	1026	639	23	1		1	ASB18	2	237172977	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	30001693	237172977	6026396	15	31047											
WDR48	57599	broad.mit.edu	37	chr3	39118643	39118643	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttcagatggagcttgataGatcagctgatcctcctcctg	9	10	2	4			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:39118643G>A	ENST00000302313.5	+	9	939	c.911G>A	c.(910-912)aGa>aAa	p.R304K	WDR48_ENST00000396258.3_Missense_Mutation_p.R222K|WDR48_ENST00000544962.1_Missense_Mutation_p.R96K|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	304					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAGCTTGATAGATCAGCTGAT	0.373													False	0	False	3:39118643	0	A	39118643	G	A	39118643	3	1	112	1	0	0	0	0	1	0	0	0	17385	942	33	2	945	2	WDR48	3	39118643	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		39118643	158903787	16	31048											
CSPG5	10675	broad.mit.edu	37	chr3	47618421	47618421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccggcaggagccgttatgCcgcacaaagccactgcggca	13	14	0	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:47618421C>T	ENST00000383738.2	-	2	3193	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	CSPG5_ENST00000264723.4_Silent_p.R365R|CSPG5_ENST00000456150.1_Silent_p.R227R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCCGTTATGCCGCACAAAGC	0.627													False	0	False	3:47618421	0	T	47618421	C	T	47618421	2	4	112	1	0	0	0	0	0	0	0	1	3986	726	26	2		2	CSPG5	3	47618421	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	8499778	47618421	150404009	17	31049											
NFKBIZ	64332	broad.mit.edu	37	chr3	101575980	101575980	+	Frame_Shift_Del	DEL	C	C	-													aagcaaatctggaactcattCgcctctttttggagctgccc							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:101575980delC	ENST00000326172.5	+	10	2003	c.1888delC	c.(1888-1890)cgcfs	p.R630fs	NFKBIZ_ENST00000326151.5_Frame_Shift_Del_p.R508fs|NFKBIZ_ENST00000394054.2_Frame_Shift_Del_p.R530fs	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	630	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GGAACTCATTCGCCTCTTTTT	0.463													False	1	False	3:101575980	0	-	101575980	C	-	101575980	7	5	112	1	0	1	0	1	0	0	0	0	10451	884	31	0	1926	0	NFKBIZ	3	101575980	Frame_Shift_Del	DEL	C	TCGA-IB-AAUO-01A-12D-A38G-08	53957559	101575980	96446450	18	31050											
PHLDB2	90102	broad.mit.edu	37	chr3	111603672	111603672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcctgagtcacatgGgagcctacagccgatcactt	11	13	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:111603672G>A	ENST00000431670.2	+	2	1159	c.748G>A	c.(748-750)Gga>Aga	p.G250R	PHLDB2_ENST00000477695.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G250R|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G277R|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G250R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	250						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGTCACATGGGAGCCTACAG	0.507													False	0	True	3:111603672	0	A	111603672	G	A	111603672	3	1	112	1	0	0	0	0	1	0	0	0	11921	1233	43	2	835	2	PHLDB2	3	111603672	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	10027692	111603672	86418758	19	31051											
MBD4	8930	broad.mit.edu	37	chr3	129151965	129151965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttgacaatggtttttgCccgaagatcgtagagaccaa	10	8	0	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:129151965C>T	ENST00000429544.2	-	6	1714	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T	MBD4_ENST00000503197.1_Missense_Mutation_p.A513T|MBD4_ENST00000249910.1_Missense_Mutation_p.A513T|MBD4_ENST00000507208.1_Missense_Mutation_p.A513T|MBD4_ENST00000393278.2_Missense_Mutation_p.A195T	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	513					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						ATGGTTTTTGCCCGAAGATCG	0.403								Base excision repair (BER), DNA glycosylases					False	0	True	3:129151965	0	T	129151965	C	T	129151965	3	4	112	1	0	0	0	0	1	0	0	0	9413	739	26	2	217	2	MBD4	3	129151965	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	17548293	129151965	68870465	20	31052											
TRIM42	287015	broad.mit.edu	37	chr3	140407107	140407107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagcacccacagcctcgGcaaccagcacatataccagc	6	17	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:140407107G>A	ENST00000286349.3	+	3	1774	c.1583G>A	c.(1582-1584)gGc>gAc	p.G528D		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	528						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACAGCCTCGGCAACCAGCAC	0.577													False	0	False	3:140407107	0	A	140407107	G	A	140407107	3	1	112	1	0	0	0	0	1	0	0	0	16600	1203	42	2	1593	2	TRIM42	3	140407107	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	11255142	140407107	57615323	21	31053											
PPARGC1A	10891	broad.mit.edu	37	chr4	23830129	23830129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgaggagggtcatcGtttgtggtcagatatttgag	16	3	2	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:23830129G>A	ENST00000264867.2	-	5	770	c.651C>T	c.(649-651)aaC>aaT	p.N217N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	217					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GAGGGTCATCGTTTGTGGTCA	0.468													False	0	True	4:23830129	0	A	23830129	G	A	23830129	2	1	112	1	0	0	0	0	0	0	0	1	12369	1136	40	1		1	PPARGC1A	4	23830129	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		23830129	167324147	22	31054											
GRID2	2895	broad.mit.edu	37	chr4	94376915	94376915	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcagtgggggtactacttCgaagggctgaaaagacagtg	14	7	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:94376915C>T	ENST00000282020.4	+	11	1906	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	GRID2_ENST00000510992.1_Nonsense_Mutation_p.R455*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	550					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGTACTACTTCGAAGGGCTGA	0.478													False	0	False	4:94376915	0	T	94376915	C	T	94376915	4	4	112	1	0	0	0	0	0	1	0	0	6819	876	31	1	1690	1	GRID2	4	94376915	Nonsense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	70546786	94376915	96777361	23	31055											
GRID2	2895	broad.mit.edu	37	chr4	94547520	94547520	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacaccattggaaatactgTtgctgatcggggatatggaa	11	6	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:94547520T>G	ENST00000282020.4	+	14	2552	c.2294T>G	c.(2293-2295)gTt>gGt	p.V765G	GRID2_ENST00000510992.1_Missense_Mutation_p.V670G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	765					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGAAATACTGTTGCTGATCGG	0.388													False	0	False	4:94547520	0	G	94547520	T	G	94547520	3	3	112	1	0	0	0	0	1	0	0	0	6819	1725	60	4	2348	4	GRID2	4	94547520	Missense_Mutation	SNP	T	TCGA-IB-AAUO-01A-12D-A38G-08	170605	94547520	96606756	24	31056											
FAT1	2195	broad.mit.edu	37	chr4	187510153	187510153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaaactgattgctgaattCgggcggtaacggtggtagct	13	7	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:187510153C>T	ENST00000441802.2	-	27	13569	c.13360G>A	c.(13360-13362)Gaa>Aaa	p.E4454K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4454					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.E4454K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCTGAATTCGGGCGGTAAC	0.527										HNSCC(5;0.00058)			False	0	True	4:187510153	0	T	187510153	C	T	187510153	3	4	112	1	0	0	0	0	1	0	0	0	5729	893	31	1	410	1	FAT1	4	187510153	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	92962633	187510153	3644123	25	31057											
ADAMTS12	81792	broad.mit.edu	37	chr5	33596156	33596156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgcaatgggcagtttggCggcggatacctgggggtcag	17	7	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr5:33596156C>T	ENST00000504830.1	-	17	2872	c.2537G>A	c.(2536-2538)cGc>cAc	p.R846H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R761H|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	846	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R846H(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCAGTTTGGCGGCGGATACC	0.517										HNSCC(64;0.19)			False	0	False	5:33596156	0	T	33596156	C	T	33596156	3	4	112	1	0	0	0	0	1	0	0	0	257	768	27	1	2279	1	ADAMTS12	5	33596156	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08		33596156	147319104	26	31058											
FAT2	2196	broad.mit.edu	37	chr5	150923075	150923075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccagtttctgcagagtgGcaatctggccattggggttt	13	8	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr5:150923075G>A	ENST00000261800.5	-	9	7625	c.7613C>T	c.(7612-7614)gCc>gTc	p.A2538V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2538	Cadherin 22.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCAGAGTGGCAATCTGGCC	0.453													False	0	False	5:150923075	0	A	150923075	G	A	150923075	3	1	112	1	0	0	0	0	1	0	0	0	5730	1203	42	2	5496	2	FAT2	5	150923075	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	117326919	150923075	29992185	27	31059											
SGCD	6444	broad.mit.edu	37	chr5	155771593	155771593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatttatggctggcggaaacGatgcctgtatttctttgtcc	11	8	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr5:155771593G>A	ENST00000435422.3	+	2	582	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	SGCD_ENST00000337851.4_Missense_Mutation_p.R33Q|SGCD_ENST00000517913.1_Missense_Mutation_p.R33Q|SGCD_ENST00000447401.1_Missense_Mutation_p.R33Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	32					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGGAAACGATGCCTGTAT	0.483													False	0	False	5:155771593	0	A	155771593	G	A	155771593	3	1	112	1	0	0	0	0	1	0	0	0	14282	1058	37	1	104	1	SGCD	5	155771593	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	4848518	155771593	25143667	28	31060											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	112	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-AAUO-01A-12D-A38G-08		7393450	163721617	29	31061											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199947	26199947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtccaccccgacaccgGcatctcatccaaggccatgg	10	17	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:26199947G>A	ENST00000359985.1	+	1	200	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CCCGACACCGGCATCTCATCC	0.567													False	0	False	6:26199947	0	A	26199947	G	A	26199947	3	1	112	1	0	0	0	0	1	0	0	0	7192	1203	42	2	163	2	HIST1H2BF	6	26199947	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	18806497	26199947	144915120	30	31062											
BTN2A2	10385	broad.mit.edu	37	chr6	26392774	26392774	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcagggaaacattactGggaggtggaggtggaaaacg	16	7	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:26392774G>A	ENST00000356709.4	+	8	1262	c.1151G>A	c.(1150-1152)tGg>tAg	p.W384*	BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Nonsense_Mutation_p.W384*|BTN2A2_ENST00000482536.1_Nonsense_Mutation_p.W174*|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Nonsense_Mutation_p.W268*	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	384	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						AAACATTACTGGGAGGTGGAG	0.572													False	0	True	6:26392774	0	A	26392774	G	A	26392774	4	1	112	1	0	0	0	0	0	1	0	0	1568	1357	47	2	1177	2	BTN2A2	6	26392774	Nonsense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	192827	26392774	144722293	31	31063											
ZNF165	7718	broad.mit.edu	37	chr6	28056524	28056525	+	Frame_Shift_Del	DEL	AG	AG	-													aaaagaatcaggggagtctcAgagactctcgtctgcccagg							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:28056524_28056525delAG	ENST00000377325.1	+	4	1290_1291	c.734_735delAG	c.(733-735)cagfs	p.Q245fs		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	245					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGAGTCTCAGAGACTCTCGT	0.446													False	2	False	6:28056524	0	-	28056525	AG	-	28056524	7	5	112	1	0	1	0	1	0	0	0	0	17823	188	7	0	744	0	ZNF165	6	28056524	Frame_Shift_Del	DEL	AG	TCGA-IB-AAUO-01A-12D-A38G-08	1663750	28056524	143058543	32	31064											
NCR2	9436	broad.mit.edu	37	chr6	41318497	41318497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccttcaacaggtcacGgaccttccctggacctcagt	8	16	3	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:41318497G>A	ENST00000373089.5	+	5	814	c.726G>A	c.(724-726)acG>acA	p.T242T	NCR2_ENST00000373083.4_3'UTR|NCR2_ENST00000373086.3_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	242					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					aacaggtcacggaccttccct	0.478													False	0	False	6:41318497	0	A	41318497	G	A	41318497	2	1	112	1	0	0	0	0	0	0	0	1	10306	1103	39	1		1	NCR2	6	41318497	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	13261973	41318497	129796570	33	31065											
CD2AP	23607	broad.mit.edu	37	chr6	47471156	47471157	+	Frame_Shift_Ins	INS	-	-	CTAAAATCTAA													aaatgggagaagaggaatgtINStccctgacaatttcgttaag							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:47471156_47471157insCTAAAATCTAA	ENST00000359314.5	+	2	601_602	c.145_146insCTAAAATCTAA	c.(145-147)ttcfs	p.F49fs		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	49	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAGAGGAATGTTCCCTGACAAT	0.337													False	0	True	6:47471156	0	CTAAAATCTAA	47471157	-	CTAAAATCTAA	47471156	7	5	112	1	0	1	1	0	0	0	0	0	3017	1725	60	0	151	0	CD2AP	6	47471156	Frame_Shift_Ins	INS	-	TCGA-IB-AAUO-01A-12D-A38G-08	6152659	47471156	123643911	34	31066											
COQ3	51805	broad.mit.edu	37	chr6	99831606	99831606	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attctgttcaaacaggaaaaGatcgtcctgtaggatttgaa	9	6	2	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:99831606G>A	ENST00000254759.3	-	2	225	c.201C>T	c.(199-201)atC>atT	p.I67I	COQ3_ENST00000369242.1_5'UTR|COQ3_ENST00000479163.1_5'UTR	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	67					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AACAGGAAAAGATCGTCCTGT	0.338													False	0	True	6:99831606	0	A	99831606	G	A	99831606	2	1	112	1	0	0	0	0	0	0	0	1	3769	932	33	2		2	COQ3	6	99831606	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	52360450	99831606	71283461	35	31067											
TIAM2	26230	broad.mit.edu	37	chr6	155451469	155451469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctttgttgaggatactgCgaagaaggactccctcaaag	11	9	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:155451469C>T	ENST00000461783.3	+	6	2385	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V	TIAM2_ENST00000318981.5_Missense_Mutation_p.A371V|TIAM2_ENST00000529824.2_Missense_Mutation_p.A371V|TIAM2_ENST00000456144.1_Missense_Mutation_p.A371V|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.A371V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	371					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAGGATACTGCGAAGAAGGAC	0.547													False	0	False	6:155451469	0	T	155451469	C	T	155451469	3	4	112	1	0	0	0	0	1	0	0	0	15973	768	27	1	1114	1	TIAM2	6	155451469	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	55619863	155451469	15663598	36	31068											
CDHR3	222256	broad.mit.edu	37	chr7	105673026	105673026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagctgagtggcaaagcGtgggctgaggatgctggtct	18	6	1	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:105673026G>A	ENST00000542731.1	+	19	2649	c.2541G>A	c.(2539-2541)gcG>gcA	p.A847A	CDHR3_ENST00000478080.1_Silent_p.A759A|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000317716.9_Silent_p.A847A			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	847					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GTGGCAAAGCGTGGGCTGAGG	0.577													False	0	False	7:105673026	0	A	105673026	G	A	105673026	2	1	112	1	0	0	0	0	0	0	0	1	3143	1132	40	1		1	CDHR3	7	105673026	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		105673026	53465637	37	31069											
FLNC	2318	broad.mit.edu	37	chr7	128480725	128480725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcggctacgccatccctcGcaggtgagtaccttgcgccc	13	16	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:128480725G>A	ENST00000325888.8	+	10	1934	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	FLNC_ENST00000346177.6_Missense_Mutation_p.R558H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	558					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCCATCCCTCGCAGGTGAGTA	0.637													False	0	False	7:128480725	0	A	128480725	G	A	128480725	3	1	112	1	0	0	0	0	1	0	0	0	5975	1087	38	1	1711	1	FLNC	7	128480725	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	22807699	128480725	30657938	38	31070											
MRPS33	51650	broad.mit.edu	37	chr7	140710243	140710243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtccaagaaatcggagcGtctgcatgagttcagcgtaa	12	8	2	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:140710243G>A	ENST00000393008.3	-	2	346	c.191C>T	c.(190-192)aCg>aTg	p.T64M	MRPS33_ENST00000469351.1_Missense_Mutation_p.T64M|MRPS33_ENST00000324787.5_Missense_Mutation_p.T64M|MRPS33_ENST00000467334.1_Missense_Mutation_p.T54M|MRPS33_ENST00000496958.1_Missense_Mutation_p.T64M	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	64					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					AAATCGGAGCGTCTGCATGAG	0.413													False	0	False	7:140710243	0	A	140710243	G	A	140710243	3	1	112	1	0	0	0	0	1	0	0	0	9909	1145	40	1	137	1	MRPS33	7	140710243	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	12229518	140710243	18428420	39	31071											
ZHX2	22882	broad.mit.edu	37	chr8	123965170	123965170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaggtttaccggctcatcGaggtgactggccttgccagg	14	12	1	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr8:123965170G>A	ENST00000314393.4	+	3	2255	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	474	Required for interaction with NFYA.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCGGCTCATCGAGGTGACTGG	0.557													False	0	False	8:123965170	0	A	123965170	G	A	123965170	3	1	112	1	0	0	0	0	1	0	0	0	17759	1059	37	1	1422	1	ZHX2	8	123965170	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		123965170	22398852	40	31072											
BAI1	575	broad.mit.edu	37	chr8	143618425	143618425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggggctccttccagaaCggccacgcccagctcatggt	12	15	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr8:143618425C>T	ENST00000517894.1	+	26	4542	c.3648C>T	c.(3646-3648)aaC>aaT	p.N1216N	BAI1_ENST00000323289.5_Silent_p.N1216N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1216					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTTCCAGAACGGCCACGCCC	0.692													False	0	False	8:143618425	0	T	143618425	C	T	143618425	2	4	112	1	0	0	0	0	0	0	0	1	1302	535	19	1		1	BAI1	8	143618425	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	19653255	143618425	2745597	41	31073											
ARID3C	138715	broad.mit.edu	37	chr9	34622033	34622033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccagtgtagaccaccccGttgatctctagggccatgtt	9	12	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:34622033G>A	ENST00000378909.2	-	6	1214	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	374	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		AGACCACCCCGTTGATCTCTA	0.552													False	0	True	9:34622033	0	A	34622033	G	A	34622033	2	1	112	1	0	0	0	0	0	0	0	1	920	1136	40	1		1	ARID3C	9	34622033	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		34622033	106591398	42	31074											
TRPM6	140803	broad.mit.edu	37	chr9	77390934	77390934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggtaggtcatgatgtagcGatagcggttgtatttccaca	13	6	1	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:77390934G>A	ENST00000451710.3	-	24	3505	c.3268C>T	c.(3268-3270)Cgc>Tgc	p.R1090C	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1090C|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1090C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1085C|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1085C			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1090					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATGATGTAGCGATAGCGGTTG	0.493													False	0	False	9:77390934	0	A	77390934	G	A	77390934	3	1	112	1	0	0	0	0	1	0	0	0	16673	1058	37	1	2864	1	TRPM6	9	77390934	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	42768901	77390934	63822497	43	31075											
OR1N2	138882	broad.mit.edu	37	chr9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgtcttctcctatgtccGcattttctgggctgtgtttg	10	10	3	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:125316158G>A	ENST00000373688.2	+	1	768	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	237			R -> C (in dbSNP:rs41316976).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517													False	0	False	9:125316158	0	A	125316158	G	A	125316158	3	1	112	1	0	0	0	0	1	0	0	0	11038	1087	38	1	712	1	OR1N2	9	125316158	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	47925224	125316158	15897273	44	31076											
COL5A1	1289	broad.mit.edu	37	chr9	137709638	137709638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagggtcccccaggcccCgcaggccccgaaggcagaca	12	17	1	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:137709638C>T	ENST00000371817.3	+	54	4605	c.4191C>T	c.(4189-4191)ccC>ccT	p.P1397P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1397	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCAGGCCCCGCAGGCCCCG	0.657													False	0	True	9:137709638	0	T	137709638	C	T	137709638	2	4	112	1	0	0	0	0	0	0	0	1	3719	639	23	1		1	COL5A1	9	137709638	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	12393480	137709638	3503793	45	31077											
SNAPC4	6621	broad.mit.edu	37	chr9	139289824	139289824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgggggcaggcttttgcCatctttcaccttggtgcctt	12	11	2	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:139289824C>T	ENST00000298532.2	-	4	765	c.397G>A	c.(397-399)Ggc>Agc	p.G133S		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	133	SNAPC5-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGGCTTTTGCCATCTTTCACC	0.567													False	0	False	9:139289824	0	T	139289824	C	T	139289824	3	4	112	1	0	0	0	0	1	0	0	0	14917	594	21	2	4088	2	SNAPC4	9	139289824	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	1580186	139289824	1923607	46	31078											
DIP2C	22982	broad.mit.edu	37	chr10	410376	410376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccacgatgtcgtcggcGttgtgcctgcgcccgctgac	15	14	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:410376G>A	ENST00000280886.6	-	20	2502	c.2415C>T	c.(2413-2415)aaC>aaT	p.N805N	DIP2C_ENST00000540204.1_Silent_p.N126N|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	805						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTCGTCGGCGTTGTGCCTGC	0.602													False	0	False	10:410376	0	A	410376	G	A	410376	2	1	112	1	0	0	0	0	0	0	0	1	4559	1136	40	1		1	DIP2C	10	410376	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		410376	135124371	47	31079											
KIAA1217	56243	broad.mit.edu	37	chr10	24831899	24831899	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgatgcatcaagaacatcaGaatataaaactgagatcata	6	7	3	4			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:24831899G>T	ENST00000376451.2	+	14	3009	c.2749G>T	c.(2749-2751)Gaa>Taa	p.E917*	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.E1234*|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1234					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGAACATCAGAATATAAAAC	0.413													False	0	False	10:24831899	0	T	24831899	G	T	24831899	4	4	112	1	0	0	0	0	0	1	0	0	8266	943	33	3	3774	3	KIAA1217	10	24831899	Nonsense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	24421523	24831899	110702848	48	31080											
ALOX5	240	broad.mit.edu	37	chr10	45878098	45878098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaccgctggatcaccggCgatgtcgaggttgtcctgag	14	11	1	1	rs150281723	by1000genomes	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:45878098C>T	ENST00000374391.2	+	2	371	c.318C>T	c.(316-318)ggC>ggT	p.G106G	ALOX5_ENST00000542434.1_Silent_p.G106G	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	106	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.G106G(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GGATCACCGGCGATGTCGAGG	0.592													False	0	False	10:45878098	0	T	45878098	C	T	45878098	2	4	112	1	0	0	0	0	0	0	0	1	540	755	27	1		1	ALOX5	10	45878098	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	21046199	45878098	89656649	49	31081											
CDH23	64072	broad.mit.edu	37	chr10	73492028	73492028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgggtactgagattgtgCgggtccaggcctactccatc	12	12	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:73492028C>T	ENST00000224721.6	+	31	4020	c.4015C>T	c.(4015-4017)Cgg>Tgg	p.R1339W	C10orf105_ENST00000398786.2_Intron	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1334	Cadherin 13.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGAGATTGTGCGGGTCCAGGC	0.562													False	0	True	10:73492028	0	T	73492028	C	T	73492028	3	4	112	1	0	0	0	0	1	0	0	0	3131	759	27	1	4429	1	CDH23	10	73492028	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	27613930	73492028	62042719	50	31082											
PKD2L1	9033	broad.mit.edu	37	chr10	102057186	102057186	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcattgtagactgagaagtcGatgaacaccactcgagtgcc	11	10	0	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:102057186G>A	ENST00000318222.3	-	5	1291	c.909C>T	c.(907-909)atC>atT	p.I303I	PKD2L1_ENST00000353274.3_Silent_p.I303I|PKD2L1_ENST00000338519.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	303					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTGAGAAGTCGATGAACACCA	0.567													False	0	False	10:102057186	0	A	102057186	G	A	102057186	2	1	112	1	0	0	0	0	0	0	0	1	12036	1048	37	1		1	PKD2L1	10	102057186	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	28565158	102057186	33477561	51	31083											
C10orf82	143379	broad.mit.edu	37	chr10	118425205	118425205	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgacaggtttcagtttcgggGcagtggccactgcgcagcac	14	11	1	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:118425205G>C	ENST00000369210.3	-	3	242	c.188C>G	c.(187-189)gCc>gGc	p.A63G	C10orf82_ENST00000588184.1_Missense_Mutation_p.A63G	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	63										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CAGTTTCGGGGCAGTGGCCAC	0.562													False	0	True	10:118425205	0	C	118425205	G	C	118425205	3	2	112	1	0	0	0	0	1	0	0	0	1628	1203	42	5	288	5	C10orf82	10	118425205	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	16368019	118425205	17109542	52	31084											
MUC5B	727897	broad.mit.edu	37	chr11	1268340	1268340	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accaacccctcctcaactccAgggacaactcccatcccccc	3	23	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:1268340A>T	ENST00000447027.1	+	31	10297	c.10239A>T	c.(10237-10239)ccA>ccT	p.P3413P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3410P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3410	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cctcaactccagggacaactc	0.637													False	0	True	11:1268340	0	T	1268340	A	T	1268340	2	4	112	1	0	0	0	0	0	0	0	1	10046	175	7	5		5	MUC5B	11	1268340	Silent	SNP	A	TCGA-IB-AAUO-01A-12D-A38G-08		1268340	133738176	53	31085											
C11orf70	85016	broad.mit.edu	37	chr11	101953816	101953816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggattctgctggtatGtgctatccttcagcaaagaa	9	8	3	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:101953816G>A	ENST00000434758.2	+	7	718	c.690G>A	c.(688-690)atG>atA	p.M230I		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	230										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CTGCTGGTATGTGCTATCCTT	0.294													False	0	False	11:101953816	0	A	101953816	G	A	101953816	3	1	112	1	0	0	0	0	1	0	0	0	1667	1377	48	2	598	2	C11orf70	11	101953816	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	100685476	101953816	33052700	54	31086											
DYNC2H1	79659	broad.mit.edu	37	chr11	103027117	103027117	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggatattttgtgttaaatagGatttaaatagtcgggcacaa	10	3	0	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:103027117G>T	ENST00000375735.2	+	26	3889	c.3745G>T	c.(3745-3747)Gat>Tat	p.D1249Y	DYNC2H1_ENST00000398093.3_Splice_Site_p.D1249Y|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1249	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTTAAATAGGATTTAAATAG	0.284													False	0	False	11:103027117	0	T	103027117	G	T	103027117	5	4	112	1	0	0	0	0	0	0	1	0	4876	1188	41	3	3847	3	DYNC2H1	11	103027117	Splice_Site	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	1073301	103027117	31979399	55	31087											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451075	110451075	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggttttatgttgtttcttTgaataaattcccctgagata	7	6	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:110451075T>C	ENST00000260283.4	-	16	2879	c.2595A>G	c.(2593-2595)tcA>tcG	p.S865S	ARHGAP20_ENST00000357139.3_Silent_p.S839S|ARHGAP20_ENST00000529591.1_Silent_p.S408S|ARHGAP20_ENST00000524756.1_Silent_p.S842S|ARHGAP20_ENST00000527598.1_Silent_p.S829S|ARHGAP20_ENST00000533353.1_Silent_p.S839S|ARHGAP20_ENST00000528829.1_Silent_p.S829S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	865					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GTTGTTTCTTTGAATAAATTC	0.493													False	0	True	11:110451075	0	C	110451075	T	C	110451075	2	2	112	1	0	0	0	0	0	0	0	1	872	1799	63	4		4	ARHGAP20	11	110451075	Silent	SNP	T	TCGA-IB-AAUO-01A-12D-A38G-08	7423958	110451075	24555441	56	31088											
ZBTB16	7704	broad.mit.edu	37	chr11	114027126	114027126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggttcctggatagtttgCggctgagaatgcacttactg	13	8	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:114027126C>T	ENST00000335953.4	+	3	1716	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	ZBTB16_ENST00000392996.2_Missense_Mutation_p.R446W	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	446					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGATAGTTTGCGGCTGAGAAT	0.547													False	0	False	11:114027126	0	T	114027126	C	T	114027126	3	4	112	1	0	0	0	0	1	0	0	0	17609	759	27	1	1342	1	ZBTB16	11	114027126	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	3576051	114027126	20979390	57	31089											
DPAGT1	1798	broad.mit.edu	37	chr11	118972344	118972344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgatcagcagcggcatggGcaattccgagaaggcccaca	12	11	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:118972344G>A	ENST00000409993.2	-	3	1573	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	DPAGT1_ENST00000354202.4_Missense_Mutation_p.P8S|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000432443.2_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	8					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AGCGGCATGGGCAATTCCGAG	0.632											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	11:118972344	0	A	118972344	G	A	118972344	3	1	112	1	0	0	0	0	1	0	0	0	4740	1203	42	2	1240	2	DPAGT1	11	118972344	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	4945218	118972344	16034172	58	31090											
KIRREL3	84623	broad.mit.edu	37	chr11	126432761	126432761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgaaacttgtccttggcCatgtagcccagcaccagaca	8	15	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:126432761C>T	ENST00000525144.2	-	2	351	c.102G>A	c.(100-102)atG>atA	p.M34I	KIRREL3_ENST00000525704.2_Missense_Mutation_p.M34I|KIRREL3_ENST00000529097.2_Missense_Mutation_p.M34I|KIRREL3_ENST00000533026.2_5'UTR|KIRREL3-AS1_ENST00000548204.1_RNA	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	34					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TGTCCTTGGCCATGTAGCCCA	0.547													False	0	False	11:126432761	0	T	126432761	C	T	126432761	3	4	112	1	0	0	0	0	1	0	0	0	8376	594	21	2	2405	2	KIRREL3	11	126432761	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	7460417	126432761	8573755	59	31091											
ACSM4	341392	broad.mit.edu	37	chr12	7469871	7469871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcattgggttcaccctctgCggaaggtagggaagaaaatt	14	7	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:7469871C>T	ENST00000399422.4	+	4	807	c.759C>T	c.(757-759)tgC>tgT	p.C253C		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	253					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TCACCCTCTGCGGAAGGTAGG	0.463													False	0	False	12:7469871	0	T	7469871	C	T	7469871	2	4	112	1	0	0	0	0	0	0	0	1	186	776	27	1		1	ACSM4	12	7469871	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08		7469871	126382024	60	31092											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	112	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	17928413	25398284	108453611	61	31093											
SSH1	54434	broad.mit.edu	37	chr12	109186420	109186420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggggtctgagagtcgcCggaaacagcaggggaggggg	22	6	1	1	rs146699038	by1000genomes	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:109186420C>T	ENST00000326495.5	-	14	1628	c.1535G>A	c.(1534-1536)cGg>cAg	p.R512Q	SSH1_ENST00000326470.5_Missense_Mutation_p.R523Q|SSH1_ENST00000360239.3_Missense_Mutation_p.R200Q|SSH1_ENST00000551165.1_Missense_Mutation_p.R512Q	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	512					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGAGAGTCGCCGGAAACAGCA	0.637													False	0	False	12:109186420	0	T	109186420	C	T	109186420	3	4	112	1	0	0	0	0	1	0	0	0	15266	652	23	1	1808	1	SSH1	12	109186420	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	83788136	109186420	24665475	62	31094											
TMEM132B	114795	broad.mit.edu	37	chr12	125811198	125811199	+	In_Frame_Ins	INS	-	-	AGATCGGAAGAG													gcagcatccagaatggacacINScactgctgtctgcaccgggg							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:125811198_125811199insAGATCGGAAGAG	ENST00000299308.3	+	1	37_38	c.29_30insAGATCGGAAGAG	c.(28-33)accact>acAGATCGGAAGAGcact	p.10_11TT>TDRKST	TMEM132B_ENST00000418253.2_Intron	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	10						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGAATGGACACCACTGCTGTCT	0.554													False	0	False	12:125811198	0	AGATCGGAAGAG	125811199	-	AGATCGGAAGAG	125811198	7	5	112	1	0	1	1	0	0	0	0	0	16128	507	18	0	31	0	TMEM132B	12	125811198	In_Frame_Ins	INS	-	TCGA-IB-AAUO-01A-12D-A38G-08	16624778	125811198	8040697	63	31095											
GPR133	283383	broad.mit.edu	37	chr12	131476784	131476784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgccaatttctttcagatGcccacagatgcctaccatcc	6	14	2	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:131476784G>A	ENST00000261654.5	+	8	1372	c.813G>A	c.(811-813)atG>atA	p.M271I	GPR133_ENST00000535015.1_Missense_Mutation_p.M303I|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	271					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTTCAGATGCCCACAGATG	0.393													False	0	True	12:131476784	0	A	131476784	G	A	131476784	3	1	112	1	0	0	0	0	1	0	0	0	6689	1319	46	2	843	2	GPR133	12	131476784	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	5665586	131476784	2375111	64	31096											
FSCB	84075	broad.mit.edu	37	chr14	44974339	44974339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgaacttcagcgggggCctcctcagctggtggaggct	16	11	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:44974339C>T	ENST00000340446.4	-	1	2143	c.1852G>A	c.(1852-1854)Gcc>Acc	p.A618T		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	618	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCAGCGGGGGCCTCCTCAGCT	0.617													False	0	True	14:44974339	0	T	44974339	C	T	44974339	3	4	112	1	0	0	0	0	1	0	0	0	6108	739	26	2	629	2	FSCB	14	44974339	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08		44974339	62375201	65	31097											
SEL1L	6400	broad.mit.edu	37	chr14	81950645	81950645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtgttgctgctcagaaGccagacggtaatgaataaat	10	8	1	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:81950645G>A	ENST00000336735.4	-	19	2086	c.1970C>T	c.(1969-1971)gCt>gTt	p.A657V		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	657	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CTGCTCAGAAGCCAGACGGTA	0.428													False	0	False	14:81950645	0	A	81950645	G	A	81950645	3	1	112	1	0	0	0	0	1	0	0	0	14091	971	34	2	426	2	SEL1L	14	81950645	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	36976306	81950645	25398895	66	31098											
CHGA	1113	broad.mit.edu	37	chr14	93396099	93396099	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcagcagaagaaacacagCggttttgaagatgaactctc	9	9	2	5	rs150929444	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:93396099C>A	ENST00000216492.5	+	5	574	c.294C>A	c.(292-294)agC>agA	p.S98R	CHGA_ENST00000334654.4_Missense_Mutation_p.S98R|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	98					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGAAACACAGCGGTTTTGAAG	0.542													False	0	False	14:93396099	0	A	93396099	C	A	93396099	3	1	112	1	0	0	0	0	1	0	0	0	3361	767	27	3	312	3	CHGA	14	93396099	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	11445454	93396099	13953441	67	31099											
PLCB2	5330	broad.mit.edu	37	chr15	40581489	40581489	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgcttttccatctccCgtatctgttccaggcaagcc	6	15	2	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr15:40581489C>G	ENST00000260402.3	-	31	3587	c.3338G>C	c.(3337-3339)cGg>cCg	p.R1113P	PLCB2_ENST00000557821.1_Missense_Mutation_p.R1109P|PLCB2_ENST00000456256.2_Missense_Mutation_p.R1098P	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1113					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTCCATCTCCCGTATCTGTTC	0.582													False	0	True	15:40581489	0	G	40581489	C	G	40581489	3	3	112	1	0	0	0	0	1	0	0	0	12097	652	23	5	227	5	PLCB2	15	40581489	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08		40581489	61949903	68	31100											
DUOX1	53905	broad.mit.edu	37	chr15	45433521	45433521	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggagattgaagaaatcCgaaataccaccctgcaggac	10	9	0	4			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr15:45433521C>T	ENST00000321429.4	+	15	2004	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	DUOX1_ENST00000389037.3_Nonsense_Mutation_p.R533*|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.R179*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	533	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGAAGAAATCCGAAATACCAC	0.527													False	0	False	15:45433521	0	T	45433521	C	T	45433521	4	4	112	1	0	0	0	0	0	1	0	0	4830	644	23	1	1647	1	DUOX1	15	45433521	Nonsense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	4852032	45433521	57097871	69	31101											
IDH2	3418	broad.mit.edu	37	chr15	90630448	90630448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatgtcatcaatgagcCggtgctcataccagatctta	7	13	4	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr15:90630448C>A	ENST00000330062.3	-	7	976	c.863G>T	c.(862-864)cGg>cTg	p.R288L	IDH2_ENST00000559482.1_Missense_Mutation_p.R179L|IDH2_ENST00000539790.1_Missense_Mutation_p.R158L|IDH2_ENST00000540499.2_Missense_Mutation_p.R236L	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	288					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATCAATGAGCCGGTGCTCATA	0.527			M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	15:90630448	0	A	90630448	C	A	90630448	3	1	112	1	0	0	0	0	1	0	0	0	7545	652	23	3	515	3	IDH2	15	90630448	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	45196927	90630448	11900944	70	31102											
TMC7	79905	broad.mit.edu	37	chr16	19049313	19049313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttctggctgttttagggGcatgcttttatgcaatatac	10	6	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:19049313G>A	ENST00000421369.3	+	8	1351	c.793G>A	c.(793-795)Gca>Aca	p.A265T	TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.A375T|TMC7_ENST00000304381.5_Missense_Mutation_p.A375T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	375						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGTTTTAGGGGCATGCTTTTA	0.398													False	0	True	16:19049313	0	A	19049313	G	A	19049313	3	1	112	1	0	0	0	0	1	0	0	0	16072	1203	42	2	1153	2	TMC7	16	19049313	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		19049313	71305440	71	31103											
IRX5	10265	broad.mit.edu	37	chr16	54966435	54966435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctacgaccacacacccgGcatggcgggctccttggggt	12	16	0	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:54966435G>A	ENST00000394636.4	+	2	612	c.275G>A	c.(274-276)gGc>gAc	p.G92D	IRX5_ENST00000320990.5_Missense_Mutation_p.G92D|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Missense_Mutation_p.G26D			P78411	IRX5_HUMAN	iroquois homeobox 5	92					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CACACACCCGGCATGGCGGGC	0.652													False	0	False	16:54966435	0	A	54966435	G	A	54966435	3	1	112	1	0	0	0	0	1	0	0	0	7897	1203	42	2	281	2	IRX5	16	54966435	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	35917122	54966435	35388318	72	31104											
WWP2	11060	broad.mit.edu	37	chr16	69969883	69969883	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctacaactccattgtctGgatcaagtgagttccctgcc	8	12	3	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:69969883G>A	ENST00000359154.2	+	18	2071	c.1970G>A	c.(1969-1971)tGg>tAg	p.W657*	WWP2_ENST00000356003.2_Nonsense_Mutation_p.W657*|WWP2_ENST00000448661.1_Nonsense_Mutation_p.W657*|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Nonsense_Mutation_p.W218*|WWP2_ENST00000542271.1_Nonsense_Mutation_p.W541*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	657	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCATTGTCTGGATCAAGTGA	0.542													False	0	False	16:69969883	0	A	69969883	G	A	69969883	4	1	112	1	0	0	0	0	0	1	0	0	17500	1357	47	2	2040	2	WWP2	16	69969883	Nonsense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	15003448	69969883	20384870	73	31105											
ADAMTS18	170692	broad.mit.edu	37	chr16	77317969	77317969	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atctacgcaggatggatcctCtaaaataagaaaatatattt	6	6	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:77317969C>G	ENST00000282849.5	-	23	3969		c.e23-1		RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GATGGATCCTCTAAAATAAGA	0.398													False	0	False	16:77317969	0	G	77317969	C	G	77317969	5	3	112	1	0	0	0	0	0	0	1	0	263	927	32	5	119	5	ADAMTS18	16	77317969	Splice_Site	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	7348086	77317969	13036784	74	31106											
WSCD1	23302	broad.mit.edu	37	chr17	6023840	6023840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaaggagggcagcttccgGcggcgcggccggcgctccca	16	15	0	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:6023840G>A	ENST00000574946.1	+	9	1977	c.1587G>A	c.(1585-1587)cgG>cgA	p.R529R	WSCD1_ENST00000317744.5_Silent_p.R529R|WSCD1_ENST00000573634.1_Silent_p.R413R|WSCD1_ENST00000574232.1_Silent_p.R529R|WSCD1_ENST00000539421.1_Silent_p.R529R			Q658N2	WSCD1_HUMAN	WSC domain containing 1	529						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCAGCTTCCGGCGGCGCGGCC	0.647													False	0	True	17:6023840	0	A	6023840	G	A	6023840	2	1	112	1	0	0	0	0	0	0	0	1	17490	1190	42	2		2	WSCD1	17	6023840	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		6023840	75171370	75	31107											
SLC47A1	55244	broad.mit.edu	37	chr17	19458922	19458922	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggctctgcactggcaAacttgatttcccagtacacc	8	14	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:19458922A>G	ENST00000270570.4	+	8	744	c.658A>G	c.(658-660)Aac>Gac	p.N220D	SLC47A1_ENST00000395585.1_Missense_Mutation_p.N220D|SLC47A1_ENST00000457293.1_Missense_Mutation_p.N220D|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000542886.1_Missense_Mutation_p.K187R|SLC47A1_ENST00000436810.2_Missense_Mutation_p.N197D|SLC47A1_ENST00000575023.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	220						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TGCACTGGCAAACTTGATTTC	0.527													False	0	True	17:19458922	0	G	19458922	A	G	19458922	3	3	112	1	0	0	0	0	1	0	0	0	14727	14	1	4	688	4	SLC47A1	17	19458922	Missense_Mutation	SNP	A	TCGA-IB-AAUO-01A-12D-A38G-08	13435082	19458922	61736288	76	31108											
KRT24	192666	broad.mit.edu	37	chr17	38857493	38857493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcatccaggactttccGcaggccattgatgtcagcct	10	13	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:38857493G>A	ENST00000264651.2	-	3	810	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	252	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AGGACTTTCCGCAGGCCATTG	0.547													False	0	False	17:38857493	0	A	38857493	G	A	38857493	3	1	112	1	0	0	0	0	1	0	0	0	8511	1086	38	1	847	1	KRT24	17	38857493	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	19398571	38857493	42337717	77	31109											
VPS25	84313	broad.mit.edu	37	chr17	40925498	40925498	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgggctactacgatggCgatgagtttcgagtggccgt	14	9	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:40925498C>A	ENST00000253794.2	+	1	45	c.5C>A	c.(4-6)gCg>gAg	p.A2E		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	2					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ACTACGATGGCGATGAGTTTC	0.612													False	0	False	17:40925498	0	A	40925498	C	A	40925498	3	1	112	1	0	0	0	0	1	0	0	0	17280	768	27	3	7	3	VPS25	17	40925498	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	2068005	40925498	40269712	78	31110											
BRCA1	672	broad.mit.edu	37	chr17	41245612	41245612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctttatctcttcactgcTagaacaactatcaatttgca	3	10	4	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:41245612T>C	ENST00000309486.4	-	9	2075	c.1048A>G	c.(1048-1050)Agc>Ggc	p.S350G	BRCA1_ENST00000346315.3_Missense_Mutation_p.S646G|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.S599G|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S646G|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.S646G|BRCA1_ENST00000357654.3_Missense_Mutation_p.S646G|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	646					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTTCACTGCTAGAACAACTA	0.408			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			False	0	False	17:41245612	0	C	41245612	T	C	41245612	3	2	112	1	0	0	0	0	1	0	0	0	1505	1522	53	4	3781	4	BRCA1	17	41245612	Missense_Mutation	SNP	T	TCGA-IB-AAUO-01A-12D-A38G-08	320114	41245612	39949598	79	31111											
EFTUD2	9343	broad.mit.edu	37	chr17	42928694	42928694	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcaagttccagcaacataGgatcatcgaagaatttgctg	10	8	1	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:42928694G>T	ENST00000426333.2	-	28	3164	c.2867C>A	c.(2866-2868)cCt>cAt	p.P956H	EFTUD2_ENST00000402521.3_Missense_Mutation_p.P921H|EFTUD2_ENST00000591382.1_Missense_Mutation_p.P956H|EFTUD2_ENST00000592576.1_Missense_Mutation_p.P946H	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	956						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CAGCAACATAGGATCATCGAA	0.522													False	0	False	17:42928694	0	T	42928694	G	T	42928694	3	4	112	1	0	0	0	0	1	0	0	0	4991	1000	35	3	55	3	EFTUD2	17	42928694	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	1683082	42928694	38266516	80	31112											
LPO	0	broad.mit.edu	37	chr17	56345237	56345237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccttgtctgtgacaacaCccgcatcaccaaggtcccac	7	17	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:56345237C>T	ENST00000262290.4	+	13	2337	c.2021C>T	c.(2020-2022)aCc>aTc	p.T674I	LPO_ENST00000543544.1_Missense_Mutation_p.T615I|LPO_ENST00000582328.1_Missense_Mutation_p.T591I|LPO_ENST00000421678.2_Missense_Mutation_p.T591I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	674					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGTGACAACACCCGCATCACC	0.557													False	0	True	17:56345237	0	T	56345237	C	T	56345237	3	4	112	1	0	0	0	0	1	0	0	0	8984	507	18	2	2067	2	LPO	17	56345237	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	13416543	56345237	24849973	81	31113											
ENPP7	339221	broad.mit.edu	37	chr17	77709028	77709028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggtcacactctacttcGgggagccggactccacgggc	12	14	3	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:77709028G>A	ENST00000328313.5	+	3	807	c.586G>A	c.(586-588)Ggg>Agg	p.G196R		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	196					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACTCTACTTCGGGGAGCCGGA	0.627													False	0	True	17:77709028	0	A	77709028	G	A	77709028	3	1	112	1	0	0	0	0	1	0	0	0	5167	1116	39	1	596	1	ENPP7	17	77709028	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	21363791	77709028	3486182	82	31114											
SERPINB10	5273	broad.mit.edu	37	chr18	61602106	61602106	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctatgagaagctgaatgAgtggaccagtgcagacatga	12	8	0	5			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr18:61602106A>C	ENST00000238508.3	+	8	883	c.824A>C	c.(823-825)gAg>gCg	p.E275A	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AAGCTGAATGAGTGGACCAGT	0.438													False	0	False	18:61602106	0	C	61602106	A	C	61602106	3	2	112	1	0	0	0	0	1	0	0	0	14178	304	11	4	850	4	SERPINB10	18	61602106	Missense_Mutation	SNP	A	TCGA-IB-AAUO-01A-12D-A38G-08		61602106	16475142	83	31115											
DAPK3	1613	broad.mit.edu	37	chr19	3964300	3964300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccgcctcgatcttgtgCgcgatgccgaagtcgatgag	12	13	1	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:3964300C>T	ENST00000545797.2	-	4	738	c.495G>A	c.(493-495)gcG>gcA	p.A165A	DAPK3_ENST00000301264.3_Silent_p.A165A			O43293	DAPK3_HUMAN	death-associated protein kinase 3	165	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGATCTTGTGCGCGATGCCGA	0.622													False	0	False	19:3964300	0	T	3964300	C	T	3964300	2	4	112	1	0	0	0	0	0	0	0	1	4262	755	27	1		1	DAPK3	19	3964300	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08		3964300	55164683	84	31116											
MBD3L1	85509	broad.mit.edu	37	chr19	8953738	8953738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcctgctcttcagatgcGgtggagataattcctgcaga	11	10	2	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:8953738G>A	ENST00000595891.1	+	3	615	c.384G>A	c.(382-384)gcG>gcA	p.A128A	MBD3L1_ENST00000305625.2_Silent_p.A128A			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						CTTCAGATGCGGTGGAGATAA	0.522													False	0	False	19:8953738	0	A	8953738	G	A	8953738	2	1	112	1	0	0	0	0	0	0	0	1	9412	1103	39	1		1	MBD3L1	19	8953738	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	4989438	8953738	50175245	85	31117											
MUC16	94025	broad.mit.edu	37	chr19	9074660	9074660	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatggctttgtatggcctggGataggagaatattcagaact	13	5	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:9074660G>T	ENST00000397910.4	-	3	12989	c.12786C>A	c.(12784-12786)atC>atA	p.I4262I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4264	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGGCCTGGGATAGGAGAAT	0.468													False	0	True	19:9074660	0	T	9074660	G	T	9074660	2	4	112	1	0	0	0	0	0	0	0	1	10040	1164	41	3		3	MUC16	19	9074660	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	120922	9074660	50054323	86	31118											
ZNF653	115950	broad.mit.edu	37	chr19	11596490	11596490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaatggatgatcatgtgCcgccgcaggtggttggataa	14	8	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:11596490C>T	ENST00000293771.5	-	7	1687	c.1551G>A	c.(1549-1551)cgG>cgA	p.R517R	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TGATCATGTGCCGCCGCAGGT	0.592													False	0	False	19:11596490	0	T	11596490	C	T	11596490	2	4	112	1	0	0	0	0	0	0	0	1	18149	726	26	2		2	ZNF653	19	11596490	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	2521830	11596490	47532493	87	31119											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	112	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-IB-AAUO-01A-12D-A38G-08	2487177	14083667	45045316	88	31120											
PSG3	5671	broad.mit.edu	37	chr19	43237204	43237204	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggagatggagggcttGggagtctccactgtgcagaa	16	8	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:43237204G>T	ENST00000327495.5	-	3	625	c.441C>A	c.(439-441)ccC>ccA	p.P147P	PSG3_ENST00000595140.1_Silent_p.P147P	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	147	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGGAGGGCTTGGGAGTCTCCA	0.522													False	0	True	19:43237204	0	T	43237204	G	T	43237204	2	4	112	1	0	0	0	0	0	0	0	1	12732	1335	47	3		3	PSG3	19	43237204	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	29153537	43237204	15891779	89	31121											
ZNF667	63934	broad.mit.edu	37	chr19	56953041	56953041	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttattgcatttgaaaggTttctcttcagaatgaatatt	6	5	2	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:56953041T>C	ENST00000504904.3	-	7	2042	c.1323A>G	c.(1321-1323)aaA>aaG	p.K441K	ZNF667_ENST00000342634.3_Silent_p.K569K|ZNF667_ENST00000292069.6_Silent_p.K441K|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTTGAAAGGTTTCTCTTCAG	0.338													False	0	True	19:56953041	0	C	56953041	T	C	56953041	2	2	112	1	0	0	0	0	0	0	0	1	18157	1722	60	4		4	ZNF667	19	56953041	Silent	SNP	T	TCGA-IB-AAUO-01A-12D-A38G-08	13715837	56953041	2175942	90	31122											
NCOA6	23054	broad.mit.edu	37	chr20	33337722	33337722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtcctgacatctgtcccGtaaactgcaccatatttcct	5	14	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr20:33337722G>A	ENST00000374796.2	-	10	4846	c.2276C>T	c.(2275-2277)aCg>aTg	p.T759M	NCOA6_ENST00000359003.2_Missense_Mutation_p.T759M			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	759	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCTGTCCCGTAAACTGCAC	0.542													False	0	True	20:33337722	0	A	33337722	G	A	33337722	3	1	112	1	0	0	0	0	1	0	0	0	10301	1145	40	1	3943	1	NCOA6	20	33337722	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		33337722	29687798	91	31123											
PATZ1	23598	broad.mit.edu	37	chr22	31740473	31740473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagtgggacagcttgtgCcggttaagatgatacacatc	12	9	0	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr22:31740473C>T	ENST00000266269.5	-	1	1745	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	PATZ1_ENST00000215919.3_Silent_p.R372R|PATZ1_ENST00000405309.3_Silent_p.R372R|PATZ1_ENST00000351933.4_Silent_p.R372R	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	372					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R372R(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ACAGCTTGTGCCGGTTAAGAT	0.582													False	0	False	22:31740473	0	T	31740473	C	T	31740473	2	4	112	1	0	0	0	0	0	0	0	1	11544	726	26	2		2	PATZ1	22	31740473	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08		31740473	19564093	92	31124											
DMD	1756	broad.mit.edu	37	chrX	32663260	32663260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgacttgtcttcaggagCttccaaatgctgcacaataa	7	9	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:32663260C>T	ENST00000357033.4	-	10	1176	c.970G>A	c.(970-972)Gct>Act	p.A324T	DMD_ENST00000378677.2_Missense_Mutation_p.A320T|DMD_ENST00000288447.4_Missense_Mutation_p.A316T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	324					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTCAGGAGCTTCCAAATGC	0.348													False	0	False	X:32663260	0	T	32663260	C	T	32663260	3	4	112	1	0	0	0	0	1	0	0	0	4610	797	28	2	10610	2	DMD	23	32663260	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08		32663260	122607300	93	31125											
DGKK	139189	broad.mit.edu	37	chrX	50213545	50213556	+	RNA	DEL	GCGGCGGAGCCG	GCGGCGGAGCCG	-													tggcgaagcctcggagagcaGcggcggagccggcggcggag							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	GCGGCGGAGCCG	GCGGCGGAGCCG	-	-	GCGGCGGAGCCG	GCGGCGGAGCCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:50213545_50213556delGCGGCGGAGCCG	ENST00000376025.2	-	0	181_192							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGGAGAgcagcggcggagccggcggcggagc	0.693													False	1	False	X:50213545	0	-	50213556	GCGGCGGAGCCG	-	50213545	6	5	112	0	1	1	0	1	0	0	0	0	4502	962	34	0		0	DGKK	23	50213545	RNA	DEL	GCGGCGGAGCCG	TCGA-IB-AAUO-01A-12D-A38G-08	17550285	50213545	105057015	94	31126											
PHF8	23133	broad.mit.edu	37	chrX	54069187	54069187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggccctggagcgttctgCggccggccaggttcgtcgtg	16	14	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:54069187C>T	ENST00000357988.5	-	2	441	c.83G>A	c.(82-84)cGc>cAc	p.R28H	PHF8_ENST00000338946.6_5'UTR|PHF8_ENST00000338154.6_5'UTR|PHF8_ENST00000322659.8_5'UTR	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	28					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GAGCGTTCTGCGGCCGGCCAG	0.597											OREG0019805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	X:54069187	0	T	54069187	C	T	54069187	3	4	112	1	0	0	0	0	1	0	0	0	11909	768	27	1	3353	1	PHF8	23	54069187	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	3855642	54069187	101201373	95	31127											
L1CAM	3897	broad.mit.edu	37	chrX	153134383	153134383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtacgtctgattgtccGcagtcaggatcttggctggc	12	11	3	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGATTGTCCGCAGTCAGGAT	0.617													False	0	False	X:153134383	0	A	153134383	G	A	153134383	3	1	112	1	0	0	0	0	1	0	0	0	8639	1087	38	1	2553	1	L1CAM	23	153134383	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	99065196	153134383	2136177	96	31128											
SMPDL3B	27293	broad.mit.edu	37	chr1	28261707	28261707	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccccgaggatgaggctgctcGcctggctgattttcctggct	13	13	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:28261707G>C	ENST00000373894.3	+	1	204	c.13G>C	c.(13-15)Gcc>Ccc	p.A5P	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.A5P|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.A5P|SMPDL3B_ENST00000466793.1_3'UTR	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	5					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GAGGCTGCTCGCCTGGCTGAT	0.547													False	0	False	1:28261707	0	C	28261707	G	C	28261707	3	2	113	1	0	0	0	0	1	0	0	0	14889	1087	38	5	15	5	SMPDL3B	1	28261707	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		28261707	220988914	1	31129											
PUM1	9698	broad.mit.edu	37	chr1	31447601	31447601	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagactggcagggtagActccccagggagtaactcca	13	10	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:31447601A>C	ENST00000373747.3	-	10	1505	c.1406T>G	c.(1405-1407)gTc>gGc	p.V469G	PUM1_ENST00000257075.5_Missense_Mutation_p.V468G|PUM1_ENST00000423018.2_Missense_Mutation_p.V372G|PUM1_ENST00000440538.2_Missense_Mutation_p.V469G|PUM1_ENST00000424085.2_Missense_Mutation_p.V226G|PUM1_ENST00000373741.4_Missense_Mutation_p.V504G|PUM1_ENST00000373742.2_Missense_Mutation_p.V409G|PUM1_ENST00000426105.2_Missense_Mutation_p.V468G|PUM1_ENST00000490546.1_5'UTR	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	468	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GGCAGGGTAGACTCCCCAGGG	0.512													False	0	False	1:31447601	0	C	31447601	A	C	31447601	3	2	113	1	0	0	0	0	1	0	0	0	12904	275	10	4	2215	4	PUM1	1	31447601	Missense_Mutation	SNP	A	TCGA-IB-AAUP-01A-11D-A377-08	3185894	31447601	217803020	2	31130											
S100PBP	64766	broad.mit.edu	37	chr1	33291760	33291760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctctcttgcctaaagaCggtgccccattttcttggga	8	13	3	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:33291760C>T	ENST00000373475.5	+	3	314	c.60C>T	c.(58-60)gaC>gaT	p.D20D	S100PBP_ENST00000398243.3_Silent_p.D20D|S100PBP_ENST00000373476.1_Silent_p.D20D|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	20						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCCTAAAGACGGTGCCCCAT	0.458													False	0	False	1:33291760	0	T	33291760	C	T	33291760	2	4	113	1	0	0	0	0	0	0	0	1	13870	535	19	1		1	S100PBP	1	33291760	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	1844159	33291760	215958861	3	31131											
CSMD2	114784	broad.mit.edu	37	chr1	34164425	34164425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctcctcactaccccGcaggctgtatccagggtcac	9	17	2	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:34164425G>A	ENST00000373381.4	-	24	4029	c.3853C>T	c.(3853-3855)Cgg>Tgg	p.R1285W	CSMD2_ENST00000373380.1_Missense_Mutation_p.R158W|CSMD2_ENST00000373388.2_5'UTR	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1245	CUB 8.					integral to membrane|plasma membrane	protein binding	p.R1245W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCACTACCCCGCAGGCTGTAT	0.602													False	0	True	1:34164425	0	A	34164425	G	A	34164425	3	1	113	1	0	0	0	0	1	0	0	0	3970	1086	38	1	6914	1	CSMD2	1	34164425	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	872665	34164425	215086196	4	31132											
LPHN2	23266	broad.mit.edu	37	chr1	82372825	82372825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagagcgctaactatggtcGgacggatgacaagatttgtg	14	6	0	3			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:82372825G>A	ENST00000370728.1	+	6	842	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	LPHN2_ENST00000370713.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R66Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R66Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R66Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R66Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.R66Q			O95490	LPHN2_HUMAN	latrophilin 2	66	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACTATGGTCGGACGGATGAC	0.453													False	0	True	1:82372825	0	A	82372825	G	A	82372825	3	1	113	1	0	0	0	0	1	0	0	0	8978	1116	39	1	203	1	LPHN2	1	82372825	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	48208400	82372825	166877796	5	31133											
NBPF16	728936	broad.mit.edu	37	chr1	148753330	148753330	+	Frame_Shift_Del	DEL	T	T	-													tgttattcgactccttcagaTtatcttgaactgcctgactt							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:148753330delT	ENST00000417839.1	+	12	1537	c.1347delT	c.(1345-1347)gatfs	p.D449fs		NM_001102663.1	NP_001096133.1			neuroblastoma breakpoint family, member 16											breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CTCCTTCAGATTATCTTGAAC	0.493													False	2	False	1:148753330	0	-	148753330	T	-	148753330	7	5	113	1	0	1	0	1	0	0	0	0	10264	1490	52	0	3462	0	NBPF16	1	148753330	Frame_Shift_Del	DEL	T	TCGA-IB-AAUP-01A-11D-A377-08	66380505	148753330	100497291	6	31134											
HRNR	388697	broad.mit.edu	37	chr1	152191932	152191932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccgtgttttctgtagcCggaggagtgacttgagccag	15	8	1	3	rs143281072	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:152191932C>T	ENST00000368801.2	-	3	2248	c.2173G>A	c.(2173-2175)Ggc>Agc	p.G725S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	725					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGTAGCCGGAGGAGTGA	0.547													False	0	False	1:152191932	0	T	152191932	C	T	152191932	3	4	113	1	0	0	0	0	1	0	0	0	7406	652	23	1	6383	1	HRNR	1	152191932	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	3438602	152191932	97058689	7	31135											
LCE2B	26239	broad.mit.edu	37	chr1	152659492	152659492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgggggctgctgtggtcCcagctctgggggctgctgca	17	12	2	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:152659492C>T	ENST00000368780.3	+	2	227	c.173C>T	c.(172-174)cCc>cTc	p.P58L	LCE2B_ENST00000417924.2_Missense_Mutation_p.P58L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	58	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGTGGTCCCAGCTCTGGG	0.667													False	0	True	1:152659492	0	T	152659492	C	T	152659492	3	4	113	1	0	0	0	0	1	0	0	0	8717	623	22	2	175	2	LCE2B	1	152659492	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	467560	152659492	96591129	8	31136											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	113	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-IB-AAUP-01A-11D-A377-08	12023	152671515	96579106	9	31137											
BCAN	63827	broad.mit.edu	37	chr1	156626767	156626767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggctgggacgccttccaGggcgcctgctacaagcactt	12	16	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:156626767G>A	ENST00000329117.5	+	10	2424	c.2088G>A	c.(2086-2088)caG>caA	p.Q696Q	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican		C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACGCCTTCCAGGGCGCCTGCT	0.657													False	0	True	1:156626767	0	A	156626767	G	A	156626767	2	1	113	1	0	0	0	0	0	0	0	1	1349	991	35	2		2	BCAN	1	156626767	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	3955252	156626767	92623854	10	31138											
ITLN1	55600	broad.mit.edu	37	chr1	160850421	160850421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgttttctgggcgtcGccaaaatcatagaccacagg	11	10	2	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:160850421G>A	ENST00000326245.3	-	6	757	c.642C>T	c.(640-642)ggC>ggT	p.G214G	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	214	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTGGGCGTCGCCAAAATCAT	0.443													False	0	False	1:160850421	0	A	160850421	G	A	160850421	2	1	113	1	0	0	0	0	0	0	0	1	7960	1074	38	1		1	ITLN1	1	160850421	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	4223654	160850421	88400200	11	31139											
GPA33	10223	broad.mit.edu	37	chr1	167024256	167024256	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgttgtcgtccttccctcGgcagcagcagcagtagatga	12	11	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:167024256G>A	ENST00000367868.3	-	6	1127	c.784C>T	c.(784-786)Cga>Tga	p.R262*	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	262						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TCCTTCCCTCGGCAGCAGCAG	0.562													False	0	True	1:167024256	0	A	167024256	G	A	167024256	4	1	113	1	0	0	0	0	0	1	0	0	6632	1124	39	1	183	1	GPA33	1	167024256	Nonsense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	6173835	167024256	82226365	12	31140											
PAPPA2	60676	broad.mit.edu	37	chr1	176640105	176640105	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcttgcatgctctctaGggcatacatgagtgtgaagg	11	8	3	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:176640105G>T	ENST00000367662.3	+	4	3155		c.e4-1		PAPPA2_ENST00000367661.3_Splice_Site	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2						cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATGCTCTCTAGGGCATACATG	0.483													False	0	True	1:176640105	0	T	176640105	G	T	176640105	5	4	113	1	0	0	0	0	0	0	1	0	11501	1014	35	3	2001	3	PAPPA2	1	176640105	Splice_Site	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	9615849	176640105	72610516	13	31141											
OTOF	9381	broad.mit.edu	37	chr2	26703112	26703112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcttgtctccgtttctcCggtcgatcattgaggcctcc	11	13	3	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:26703112C>T	ENST00000272371.2	-	16	1997	c.1871G>A	c.(1870-1872)cGg>cAg	p.R624Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R624Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	624					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.R624L(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGTTTCTCCGGTCGATCAT	0.577													False	0	False	2:26703112	0	T	26703112	C	T	26703112	3	4	113	1	0	0	0	0	1	0	0	0	11371	652	23	1	4575	1	OTOF	2	26703112	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		26703112	216496261	14	31142											
RNF103	7844	broad.mit.edu	37	chr2	86839366	86839366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctcccagtgaattttgCccaccaagggacttctgtca	7	12	3	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:86839366C>T	ENST00000237455.4	-	3	1366	c.398G>A	c.(397-399)gGc>gAc	p.G133D	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000424788.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	133					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTGAATTTTGCCCACCAAGGG	0.388													False	0	True	2:86839366	0	T	86839366	C	T	86839366	3	4	113	1	0	0	0	0	1	0	0	0	13502	739	26	2	1667	2	RNF103	2	86839366	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	60136254	86839366	156360007	15	31143											
STARD7	56910	broad.mit.edu	37	chr2	96873900	96873900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctctgcaactcctcctcCtggatcctctcctcgtccca	4	21	2	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:96873900C>T	ENST00000337288.5	-	1	656	c.273G>A	c.(271-273)caG>caA	p.Q91Q		NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	91						mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						ACTCCTCCTCCTGGATCCTCT	0.697													False	0	True	2:96873900	0	T	96873900	C	T	96873900	2	4	113	1	0	0	0	0	0	0	0	1	15344	680	24	2		2	STARD7	2	96873900	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	10034534	96873900	146325473	16	31144											
ACMSD	130013	broad.mit.edu	37	chr2	135621024	135621024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaacgaccttgccagcacCgttgtgagctaccccaggag	10	14	0	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:135621024C>T	ENST00000356140.5	+	5	445	c.309C>T	c.(307-309)acC>acT	p.T103T	ACMSD_ENST00000392928.1_Silent_p.T45T|ACMSD_ENST00000283054.4_Silent_p.T45T|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	103					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTGCCAGCACCGTTGTGAGCT	0.562													False	0	False	2:135621024	0	T	135621024	C	T	135621024	2	4	113	1	0	0	0	0	0	0	0	1	144	639	23	1		1	ACMSD	2	135621024	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	38747124	135621024	107578349	17	31145											
TTN	7273	broad.mit.edu	37	chr2	179600638	179600638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgtgtttgttttctgcGtcggaaatcctccagttagg	10	7	1	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:179600638G>A	ENST00000589042.1	-	50	14759	c.14535C>T	c.(14533-14535)gaC>gaT	p.D4845D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.D4528D|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.D3601D|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4528	Ig-like 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTTCTGCGTCGGAAATCC	0.443													False	0	False	2:179600638	0	A	179600638	G	A	179600638	2	1	113	1	0	0	0	0	0	0	0	1	16819	1136	40	1		1	TTN	2	179600638	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	43979614	179600638	63598735	18	31146											
SPHKAP	80309	broad.mit.edu	37	chr2	228884216	228884216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctggactctgaacaaCgacgattttggggagctcat	11	10	3	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:228884216C>T	ENST00000392056.3	-	7	1400	c.1354G>A	c.(1354-1356)Gtt>Att	p.V452I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V452I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	452						cytoplasm	protein binding	p.V452I(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCTGAACAACGACGATTTTG	0.507													False	0	False	2:228884216	0	T	228884216	C	T	228884216	3	4	113	1	0	0	0	0	1	0	0	0	15130	536	19	1	3772	1	SPHKAP	2	228884216	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	49283578	228884216	14315157	19	31147											
CSPG5	10675	broad.mit.edu	37	chr3	47618423	47618423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcaggagccgttatgccGcacaaagccactgcggcact	12	15	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:47618423G>A	ENST00000383738.2	-	2	3191	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	CSPG5_ENST00000264723.4_Missense_Mutation_p.R365W|CSPG5_ENST00000456150.1_Missense_Mutation_p.R227W	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCGTTATGCCGCACAAAGCCA	0.632													False	0	False	3:47618423	0	A	47618423	G	A	47618423	3	1	113	1	0	0	0	0	1	0	0	0	3986	1086	38	1	542	1	CSPG5	3	47618423	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		47618423	150404007	20	31148											
WNT5A	7474	broad.mit.edu	37	chr3	55504238	55504238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaactggtcgtagccaCggccgcagcacatgagctcg	12	13	1	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:55504238C>T	ENST00000474267.1	-	6	1546	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	WNT5A_ENST00000264634.4_Missense_Mutation_p.R342H|WNT5A_ENST00000497027.1_Missense_Mutation_p.R327H			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	342					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GTCGTAGCCACGGCCGCAGCA	0.632													False	0	False	3:55504238	0	T	55504238	C	T	55504238	3	4	113	1	0	0	0	0	1	0	0	0	17475	536	19	1	121	1	WNT5A	3	55504238	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	7885815	55504238	142518192	21	31149											
KPNA4	3840	broad.mit.edu	37	chr3	160233331	160233331	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttgtgtttgctcatcagttCcagtaacaatgttgcccaca	7	11	2	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:160233331C>G	ENST00000334256.4	-	12	1246	c.941G>C	c.(940-942)gGa>gCa	p.G314A		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	314	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CTCATCAGTTCCAGTAACAAT	0.383													False	0	False	3:160233331	0	G	160233331	C	G	160233331	3	3	113	1	0	0	0	0	1	0	0	0	8482	855	30	5	648	5	KPNA4	3	160233331	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	104729093	160233331	37789099	22	31150											
SLC7A14	57709	broad.mit.edu	37	chr3	170198388	170198388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatggtcaccgtgtgcccCgtcgctgctgtgggccggtc	15	14	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:170198388C>T	ENST00000231706.5	-	7	1998	c.1683G>A	c.(1681-1683)acG>acA	p.T561T	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCGTGTGCCCCGTCGCTGCTG	0.507													False	0	True	3:170198388	0	T	170198388	C	T	170198388	2	4	113	1	0	0	0	0	0	0	0	1	14776	639	23	1		1	SLC7A14	3	170198388	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	9965057	170198388	27824042	23	31151											
FAM105A	54491	broad.mit.edu	37	chr5	14608915	14608915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtatgtgcaacacccTtttttcagatgccattctgg	9	9	2	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:14608915T>C	ENST00000274217.3	+	7	806	c.686T>C	c.(685-687)cTt>cCt	p.L229P		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	229								p.S231fs*13(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGCAACACCCTTTTTTCAGAT	0.328													False	0	True	5:14608915	0	C	14608915	T	C	14608915	3	2	113	1	0	0	0	0	1	0	0	0	5423	1609	56	4	712	4	FAM105A	5	14608915	Missense_Mutation	SNP	T	TCGA-IB-AAUP-01A-11D-A377-08		14608915	166306345	24	31152											
SKP2	6502	broad.mit.edu	37	chr5	36168477	36168477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtgtccaccctccacgGcatactgtctcagtgttcca	8	14	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:36168477G>A	ENST00000274255.6	+	5	795	c.599G>A	c.(598-600)gGc>gAc	p.G200D	SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.G200D|SKP2_ENST00000546211.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	200					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.G200D(2)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCCTCCACGGCATACTGTCT	0.507													False	0	False	5:36168477	0	A	36168477	G	A	36168477	3	1	113	1	0	0	0	0	1	0	0	0	14443	1203	42	2	617	2	SKP2	5	36168477	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	21559562	36168477	144746783	25	31153											
HSPA4	3308	broad.mit.edu	37	chr5	132432935	132432935	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaatatgtgtatgaaatgaGagacaagcttagtggtgaat	13	2	0	4			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:132432935G>A	ENST00000304858.2	+	15	2175	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	629					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATGAAATGAGAGACAAGCTT	0.393													False	0	True	5:132432935	0	A	132432935	G	A	132432935	3	1	113	1	0	0	0	0	1	0	0	0	7461	942	33	2	1944	2	HSPA4	5	132432935	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	96264458	132432935	48482325	26	31154											
PCDHA2	0	broad.mit.edu	37	chr5	140176604	140176604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcgcgggcgtgggtgggCgccgcgggctcagaggctac	20	12	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:140176604C>T	ENST00000526136.1	+	1	2055	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHA2_ENST00000520672.2_Silent_p.G685G|PCDHA2_ENST00000378132.1_Silent_p.G685G|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGTGGGCGCCGCGGGCT	0.642													False	0	True	5:140176604	0	T	140176604	C	T	140176604	2	4	113	1	0	0	0	0	0	0	0	1	11592	755	27	1		1	PCDHA2	5	140176604	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	7743669	140176604	40738656	27	31155											
PCDHA2	0	broad.mit.edu	37	chr5	140176666	140176666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatcatcgccatctgcgCggtatccagcctgttggtgc	11	14	2	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:140176666C>T	ENST00000526136.1	+	1	2117	c.2117C>T	c.(2116-2118)gCg>gTg	p.A706V	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A706V|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A706V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1												p.A706V(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCATCTGCGCGGTATCCAGC	0.692													False	0	False	5:140176666	0	T	140176666	C	T	140176666	3	4	113	1	0	0	0	0	1	0	0	0	11592	768	27	1	2119	1	PCDHA2	5	140176666	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	62	140176666	40738594	28	31156											
PCDHB5	0	broad.mit.edu	37	chr5	140516722	140516722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgctgcagaacggctcggCgccttgcaccgagctggtgc	14	15	0	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:140516722C>T	ENST00000231134.5	+	1	1923	c.1706C>T	c.(1705-1707)gCg>gTg	p.A569V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		569	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGGCTCGGCGCCTTGCACC	0.721													False	0	False	5:140516722	0	T	140516722	C	T	140516722	3	4	113	1	0	0	0	0	1	0	0	0	11613	768	27	1	1708	1	PCDHB5	5	140516722	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	340056	140516722	40398538	29	31157											
PPP2R2B	5521	broad.mit.edu	37	chr5	145979904	145979904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgagatcccagactttgaCggtcaagtagtccctggtca	11	10	2	3			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:145979904C>T	ENST00000394413.3	-	7	1480	c.910G>A	c.(910-912)Gtc>Atc	p.V304I	PPP2R2B_ENST00000508545.2_Missense_Mutation_p.V293I|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.V370I|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.V362I|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.V304I|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.V293I|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.V310I|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.V304I|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.V307I|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.V304I			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	304					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGACTTTGACGGTCAAGTAG	0.458													False	0	False	5:145979904	0	T	145979904	C	T	145979904	3	4	113	1	0	0	0	0	1	0	0	0	12459	536	19	1	433	1	PPP2R2B	5	145979904	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	5463182	145979904	34935356	30	31158											
LRFN2	57497	broad.mit.edu	37	chr6	40359728	40359728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagctgccaaaagtccccCgggcccccaccaggtcactc	10	19	1	0	rs146316351	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:40359728C>T	ENST00000338305.6	-	3	2866	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	775						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAAGTCCCCCGGGCCCCCAC	0.607													False	0	True	6:40359728	0	T	40359728	C	T	40359728	3	4	113	1	0	0	0	0	1	0	0	0	9000	652	23	1	49	1	LRFN2	6	40359728	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		40359728	130755339	31	31159											
TCTE1	202500	broad.mit.edu	37	chr6	44254126	44254126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgggccacgtggcacaCgggccagcgatgcatgcagc	16	12	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:44254126C>T	ENST00000371505.4	-	3	543	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_De_novo_Start_InFrame	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	141										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACGTGGCACACGGGCCAGCGA	0.607													False	0	True	6:44254126	0	T	44254126	C	T	44254126	3	4	113	1	0	0	0	0	1	0	0	0	15799	536	19	1	1096	1	TCTE1	6	44254126	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	3894398	44254126	126860941	32	31160											
MDN1	23195	broad.mit.edu	37	chr6	90453401	90453401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttctgatttgccaaggctGcaaatacctgacagatagta	8	8	1	3			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:90453401G>A	ENST00000369393.3	-	30	4326	c.4211C>T	c.(4210-4212)gCa>gTa	p.A1404V	MDN1_ENST00000428876.1_Missense_Mutation_p.A1404V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1404					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGCCAAGGCTGCAAATACCTG	0.463													False	0	False	6:90453401	0	A	90453401	G	A	90453401	3	1	113	1	0	0	0	0	1	0	0	0	9482	1319	46	2	12871	2	MDN1	6	90453401	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	46199275	90453401	80661666	33	31161											
GPR6	0	broad.mit.edu	37	chr6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-													tggtagtggcggccgaaggaGcggcggcggcggccacagca							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.					integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712													False	1	True	6:110300376	0	-	110300435	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	110300376	7	5	113	1	0	1	0	1	0	0	0	0	6747	971	34	0	63	0	GPR6	6	110300376	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	TCGA-IB-AAUP-01A-11D-A377-08	19846975	110300376	60814691	34	31162											
NMBR	4829	broad.mit.edu	37	chr6	142409703	142409703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggtcccgtccgaggcCggcaggaaatccctttccca	13	14	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:142409703C>T	ENST00000258042.1	-	1	233	c.93G>A	c.(91-93)ccG>ccA	p.P31P	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	31					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGTCCGAGGCCGGCAGGAAAT	0.607													False	0	False	6:142409703	0	T	142409703	C	T	142409703	2	4	113	1	0	0	0	0	0	0	0	1	10555	639	23	1		1	NMBR	6	142409703	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	32109327	142409703	28705364	35	31163											
RAET1G	353091	broad.mit.edu	37	chr6	150240886	150240886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccacctggccttgaaccGcacaccaccgtggtccaggt	9	17	0	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:150240886G>A	ENST00000367360.2	-	2	219	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RAET1G_ENST00000479265.1_Missense_Mutation_p.A51V	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G	51	MHC class I alpha-1 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCTTGAACCGCACACCACCG	0.532													False	0	False	6:150240886	0	A	150240886	G	A	150240886	3	1	113	1	0	0	0	0	1	0	0	0	13079	1087	38	1	868	1	RAET1G	6	150240886	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	7831183	150240886	20874181	36	31164											
FNDC1	84624	broad.mit.edu	37	chr6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-													agcagtcggtctcagccgagGacgacgaggaggaggacgcg							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65													False	2	False	6:159655079	0	-	159655081	GAC	-	159655079	7	5	113	1	0	1	0	1	0	0	0	0	6008	1174	41	0	3577	0	FNDC1	6	159655079	In_Frame_Del	DEL	GAC	TCGA-IB-AAUP-01A-11D-A377-08	9414193	159655079	11459988	37	31165											
LPA	4018	broad.mit.edu	37	chr6	161020531	161020531	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtaaagaacaaagacgtaCgcatttgggtagttttctgg	12	5	1	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:161020531C>T	ENST00000447678.1	-	21	3408		c.e21+1		LPA_ENST00000316300.5_Splice_Site	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAAGACGTACGCATTTGGGT	0.483													False	0	False	6:161020531	0	T	161020531	C	T	161020531	5	4	113	1	0	0	0	0	0	0	1	0	8965	550	19	1	2914	1	LPA	6	161020531	Splice_Site	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	1365452	161020531	10094536	38	31166											
INTS1	26173	broad.mit.edu	37	chr7	1542704	1542704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggacaacgcggccgccGcatcccgcttgcgctcagaa	11	17	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:1542704G>A	ENST00000389470.4	-	4	565	c.566C>T	c.(565-567)gCg>gTg	p.A189V	INTS1_ENST00000404767.3_Missense_Mutation_p.A61V			Q8N201	INT1_HUMAN	integrator complex subunit 1	61					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGCGGCCGCCGCATCCCGCTT	0.657													False	0	False	7:1542704	0	A	1542704	G	A	1542704	3	1	113	1	0	0	0	0	1	0	0	0	7825	1087	38	1	6574	1	INTS1	7	1542704	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		1542704	157595959	39	31167											
PAPOLB	56903	broad.mit.edu	37	chr7	4899881	4899881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agacaagtcaaagctgctgtCgttcaaatctgtcaatcttc	7	10	5	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:4899881C>T	ENST00000404991.1	-	1	1744	c.1558G>A	c.(1558-1560)Gac>Aac	p.D520N	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	520					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAGCTGCTGTCGTTCAAATCT	0.458													False	0	False	7:4899881	0	T	4899881	C	T	4899881	3	4	113	1	0	0	0	0	1	0	0	0	11498	884	31	1	356	1	PAPOLB	7	4899881	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	3357177	4899881	154238782	40	31168											
SP8	221833	broad.mit.edu	37	chr7	20825146	20825172	+	In_Frame_Del	DEL	GCAGCCGCGGCTGCTGCCGCGGCCGCC	GCAGCCGCGGCTGCTGCCGCGGCCGCC	-													agtcggacaccagggccgcgGcagccgcggctgctgccgcg					rs9771343		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	GCAGCCGCGGCTGCTGCCGCGGCCGCC	GCAGCCGCGGCTGCTGCCGCGGCCGCC	-	-	GCAGCCGCGGCTGCTGCCGCGGCCGCC	GCAGCCGCGGCTGCTGCCGCGGCCGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:20825146_20825172delGCAGCCGCGGCTGCTGCCGCGGCCGCC	ENST00000361443.4	-	3	447_473	c.210_236delGGCGGCCGCGGCAGCAGCCGCGGCTGC	c.(208-237)gcggcggccgcggcagcagccgcggctgcc>gcc	p.70_79AAAAAAAAAA>A	SP8_ENST00000418710.2_In_Frame_Del_p.88_97AAAAAAAAAA>A	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	70	Ala-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						CAGGgccgcggcagccgcggctgctgccgcggccgccgcagccgccg	0.744													False	1	False	7:20825146	0	-	20825172	GCAGCCGCGGCTGCTGCCGCGGCCGCC	-	20825146	7	5	113	1	0	1	0	1	0	0	0	0	15050	1203	42	0	1240	0	SP8	7	20825146	In_Frame_Del	DEL	GCAGCCGCGGCTGCTGCCGCGGCCGCC	TCGA-IB-AAUP-01A-11D-A377-08	15925265	20825146	138313517	41	31169											
RELN	5649	broad.mit.edu	37	chr7	103629732	103629732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtaatagccagccgccgcGcgcgccctcagcgtcgcccc	13	19	1	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:103629732G>A	ENST00000424685.2	-	1	231	c.72C>T	c.(70-72)cgC>cgT	p.R24R	RELN_ENST00000343529.5_Silent_p.R24R|RELN_ENST00000428762.1_Silent_p.R24R			P78509	RELN_HUMAN	reelin	24					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCCGCCGCGCGCGCCCTCA	0.711													False	0	True	7:103629732	0	A	103629732	G	A	103629732	2	1	113	1	0	0	0	0	0	0	0	1	13299	1074	38	1		1	RELN	7	103629732	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	82804586	103629732	55508931	42	31170											
NOBOX	135935	broad.mit.edu	37	chr7	144097345	144097345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctgggcaatctctcggCgtttatcactgtcaggatag	11	11	4	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:144097345C>T	ENST00000467773.1	-	5	904	c.905G>A	c.(904-906)cGc>cAc	p.R302H	NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	302					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AATCTCTCGGCGTTTATCACT	0.557													False	0	False	7:144097345	0	T	144097345	C	T	144097345	3	4	113	1	0	0	0	0	1	0	0	0	10580	768	27	1	1098	1	NOBOX	7	144097345	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	40467613	144097345	15041318	43	31171											
FER1L6	654463	broad.mit.edu	37	chr8	125058136	125058136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagctgtatgacagcgaCgctgtggtgagtgtccccct	15	10	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr8:125058136C>T	ENST00000522917.1	+	21	2924	c.2718C>T	c.(2716-2718)gaC>gaT	p.D906D	FER1L6_ENST00000399018.1_Silent_p.D906D	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	906	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGACAGCGACGCTGTGGTGA	0.507													False	0	False	8:125058136	0	T	125058136	C	T	125058136	2	4	113	1	0	0	0	0	0	0	0	1	5855	535	19	1		1	FER1L6	8	125058136	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		125058136	21305886	44	31172											
PIGO	84720	broad.mit.edu	37	chr9	35092197	35092197	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcagctacaacaaaactatCagagaagaacacagccaagc	6	12	2	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:35092197C>G	ENST00000378617.3	-	7	2081	c.1687G>C	c.(1687-1689)Gat>Cat	p.D563H	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.D563H|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	563					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACAAAACTATCAGAGAAGAAC	0.597													False	0	False	9:35092197	0	G	35092197	C	G	35092197	3	3	113	1	0	0	0	0	1	0	0	0	11963	826	29	5	1602	5	PIGO	9	35092197	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		35092197	106121234	45	31173											
PIGO	84720	broad.mit.edu	37	chr9	35092359	35092359	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcccctagaagcactagatCtagcttcagctcaatagttc	7	12	3	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:35092359C>G	ENST00000378617.3	-	7	1919	c.1525G>C	c.(1525-1527)Gat>Cat	p.D509H	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.D509H|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	509					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGCACTAGATCTAGCTTCAGC	0.587													False	0	False	9:35092359	0	G	35092359	C	G	35092359	3	3	113	1	0	0	0	0	1	0	0	0	11963	913	32	5	1764	5	PIGO	9	35092359	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	162	35092359	106121072	46	31174											
TPM2	7169	broad.mit.edu	37	chr9	35685471	35685472	+	In_Frame_Ins	INS	-	-	AATGCATGTATTTTTTTGTTTTTTTGAGATGGAGTTTCGTTCTTTTTA													atcctcagcgatgtgcttggINScctccttcagctgcatctcc							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:35685471_35685472insAATGCATGTATTTTTTTGTTTTTTTGAGATGGAGTTTCGTTCTTTTTA	ENST00000378292.3	-	4	1653_1654	c.451_452insTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATT	c.(451-453)gcc>gTAAAAAGAACGAAACTCCATCTCAAAAAAACAAAAAAATACATGCATTcc	p.151_151A>VKRTKLHLKKTKKYMHS	TPM2_ENST00000360958.2_In_Frame_Ins_p.151_151A>VKRTKLHLKKTKKYMHS|TPM2_ENST00000329305.2_In_Frame_Ins_p.151_151A>VKRTKLHLKKTKKYMHS|TPM2_ENST00000378300.5_In_Frame_Ins_p.151_151A>VKRTKLHLKKTKKYMHS	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	151					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATGTGCTTGGCCTCCTTCAGC	0.564													False	0	False	9:35685471	0	AATGCATGTATTTTTTTGTTTTTTTGAGATGGAGTTTCGTTCTTTTTA	35685472	-	AATGCATGTATTTTTTTGTTTTTTTGAGATGGAGTTTCGTTCTTTTTA	35685471	7	5	113	1	0	1	1	0	0	0	0	0	16489	1203	42	0	593	0	TPM2	9	35685471	In_Frame_Ins	INS	-	TCGA-IB-AAUP-01A-11D-A377-08	593112	35685471	105527960	47	31175											
PCSK5	5125	broad.mit.edu	37	chr9	78790149	78790153	+	Frame_Shift_Del	DEL	AATGA	AATGA	-													aatggaatgaaatggaatggAatgaaatggaatggaatgga					rs4281168		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	AATGA	AATGA	-	-	AATGA	AATGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:78790149_78790153delAATGA	ENST00000376767.3	+	14	2516_2520	c.2004_2008delAATGA	c.(2002-2010)ggaatgaaafs	p.MK669fs	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						aatggaatggaatgaaatggaatgg	0.41													False	1	True	9:78790149	0	-	78790153	AATGA	-	78790149	7	5	113	1	0	1	0	1	0	0	0	0	11671	261	9	0		0	PCSK5	9	78790149	Frame_Shift_Del	DEL	AATGA	TCGA-IB-AAUP-01A-11D-A377-08	43104678	78790149	62423282	48	31176											
GRIN3A	116443	broad.mit.edu	37	chr9	104385694	104385694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgtccatgatgaaggcGtctagtttctctggatcatt	10	8	3	2	rs143827340		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:104385694G>A	ENST00000361820.3	-	5	3120	c.2520C>T	c.(2518-2520)gaC>gaT	p.D840D		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	840					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.D840E(1)|p.D840D(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGATGAAGGCGTCTAGTTTCT	0.423													False	0	False	9:104385694	0	A	104385694	G	A	104385694	2	1	113	1	0	0	0	0	0	0	0	1	6830	1136	40	1		1	GRIN3A	9	104385694	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	25595545	104385694	36827737	49	31177											
ANKRD30A	91074	broad.mit.edu	37	chr10	37431076	37431076	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggaagacctaggaagatCgcatgggagaaaaaagaaac	12	5	0	4			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:37431076C>T	ENST00000374660.1	+	7	1182	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	ANKRD30A_ENST00000361713.1_Silent_p.I361I|ANKRD30A_ENST00000602533.1_Silent_p.I361I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	417						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTAGGAAGATCGCATGGGAGA	0.393													False	0	False	10:37431076	0	T	37431076	C	T	37431076	2	4	113	1	0	0	0	0	0	0	0	1	658	874	31	1		1	ANKRD30A	10	37431076	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		37431076	98103671	50	31178											
FAM35A	54537	broad.mit.edu	37	chr10	88930319	88930319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacctcagagatcttcctcCgaggcagcctcagagggtga	11	13	3	3			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:88930319C>T	ENST00000298786.4	+	5	1832	c.1718C>T	c.(1717-1719)cCg>cTg	p.P573L	FAM35A_ENST00000298784.1_Missense_Mutation_p.P573L			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	573										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GATCTTCCTCCGAGGCAGCCT	0.418													False	0	False	10:88930319	0	T	88930319	C	T	88930319	3	4	113	1	0	0	0	0	1	0	0	0	5593	652	23	1	1728	1	FAM35A	10	88930319	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	51499243	88930319	46604428	51	31179											
GRK5	2869	broad.mit.edu	37	chr10	121203161	121203161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcgccgttccgcggccGcaaggagaaggtgaagcggg	17	12	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:121203161G>A	ENST00000392870.2	+	12	1492	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GRK5_ENST00000369108.3_Missense_Mutation_p.R283H	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	388	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TTCCGCGGCCGCAAGGAGAAG	0.632													False	0	False	10:121203161	0	A	121203161	G	A	121203161	3	1	113	1	0	0	0	0	1	0	0	0	6839	1087	38	1	1209	1	GRK5	10	121203161	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	32272842	121203161	14331586	52	31180											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122334762	122334762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcctgcccttgtactgcGccatgatgattgccctgtcc	8	16	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:122334762G>A	ENST00000398250.1	+	6	917	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.A126T|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.A179T|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.A189T|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000398248.1_Intron	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	189					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CTTGTACTGCGCCATGATGAT	0.607													False	0	False	10:122334762	0	A	122334762	G	A	122334762	3	1	113	1	0	0	0	0	1	0	0	0	12362	1087	38	1	587	1	PPAPDC1A	10	122334762	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	1131601	122334762	13199985	53	31181											
DSCAML1	57453	broad.mit.edu	37	chr11	117651364	117651364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgccggatgtgcggcaCgtcgtagatgtcgtcccctg	15	12	0	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr11:117651364C>T	ENST00000321322.6	-	2	389	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	70	Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGTGCGGCACGTCGTAGATG	0.652													False	0	False	11:117651364	0	T	117651364	C	T	117651364	3	4	113	1	0	0	0	0	1	0	0	0	4799	536	19	1	6081	1	DSCAML1	11	117651364	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		117651364	17355152	54	31182											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	113	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		25398284	108453611	55	31183											
CNTN1	1272	broad.mit.edu	37	chr12	41419082	41419082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatagaagtcggggcctgcaAtagtgcagggtgtggacctc	15	8	0	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr12:41419082A>G	ENST00000551295.2	+	21	2771	c.2654A>G	c.(2653-2655)aAt>aGt	p.N885S	CNTN1_ENST00000348761.2_Missense_Mutation_p.N874S|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.N885S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	885	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GGGGCCTGCAATAGTGCAGGG	0.483													False	0	False	12:41419082	0	G	41419082	A	G	41419082	3	3	113	1	0	0	0	0	1	0	0	0	3663	101	4	4	2732	4	CNTN1	12	41419082	Missense_Mutation	SNP	A	TCGA-IB-AAUP-01A-11D-A377-08	16020798	41419082	92432813	56	31184											
COL2A1	1280	broad.mit.edu	37	chr12	48388219	48388219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtttacctgaggaccaggCggacccctttcaccagcttt	10	14	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr12:48388219C>T	ENST00000380518.3	-	12	968	c.804G>A	c.(802-804)ccG>ccA	p.P268P	COL2A1_ENST00000337299.6_Silent_p.P199P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	268	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.P199P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GAGGACCAGGCGGACCCCTTT	0.557													False	0	False	12:48388219	0	T	48388219	C	T	48388219	2	4	113	1	0	0	0	0	0	0	0	1	3710	755	27	1		1	COL2A1	12	48388219	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	6969137	48388219	85463676	57	31185											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37678736	37678736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccttagtccttgccacgGcaggctggttctattaaaat	9	11	1	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:37678736G>A	ENST00000379800.3	-	1	1067	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	220	Protein kinase.		P -> L (in dbSNP:rs56252856).		Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCTTGCCACGGCAGGCTGGTT	0.418													False	0	False	13:37678736	0	A	37678736	G	A	37678736	3	1	113	1	0	0	0	0	1	0	0	0	3976	1203	42	2	359	2	CSNK1A1L	13	37678736	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		37678736	77491142	58	31186											
FREM2	341640	broad.mit.edu	37	chr13	39262608	39262608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtgagcaccgatgatcGcagcctgcccctttcctcct	9	16	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:39262608G>A	ENST00000280481.7	+	1	1343	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	376					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACCGATGATCGCAGCCTGCCC	0.572													False	0	False	13:39262608	0	A	39262608	G	A	39262608	3	1	113	1	0	0	0	0	1	0	0	0	6087	1087	38	1	1129	1	FREM2	13	39262608	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	1583872	39262608	75907270	59	31187											
AKAP11	11215	broad.mit.edu	37	chr13	42876975	42876975	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtaatagtgagttgataatgGatcagtatgccaataggctt	11	4	1	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:42876975G>C	ENST00000025301.2	+	8	4268	c.4093G>C	c.(4093-4095)Gat>Cat	p.D1365H		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1365					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTTGATAATGGATCAGTATGC	0.413													False	0	False	13:42876975	0	C	42876975	G	C	42876975	3	2	113	1	0	0	0	0	1	0	0	0	447	1174	41	5	4115	5	AKAP11	13	42876975	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	3614367	42876975	72292903	60	31188											
SLITRK5	26050	broad.mit.edu	37	chr13	88328647	88328647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccccctaaggggactcGccaacccaacaagcccaggg	11	16	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:88328647G>A	ENST00000325089.6	+	2	1223	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R94H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	335						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AAGGGGACTCGCCAACCCAAC	0.582													False	0	True	13:88328647	0	A	88328647	G	A	88328647	3	1	113	1	0	0	0	0	1	0	0	0	14826	1087	38	1	1006	1	SLITRK5	13	88328647	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	45451672	88328647	26841231	61	31189											
F7	2155	broad.mit.edu	37	chr13	113772782	113772782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagccggcgggtggcgcaGgtcatcatccccagcacgta	14	14	2	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:113772782G>A	ENST00000375581.3	+	9	896	c.861G>A	c.(859-861)caG>caA	p.Q287Q	F7_ENST00000346342.3_Silent_p.Q265Q|F7_ENST00000541084.1_Silent_p.Q218Q	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	287	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGGTGGCGCAGGTCATCATCC	0.682													False	0	False	13:113772782	0	A	113772782	G	A	113772782	2	1	113	1	0	0	0	0	0	0	0	1	5382	991	35	2		2	F7	13	113772782	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	25444135	113772782	1397096	62	31190											
SLC35F4	341880	broad.mit.edu	37	chr14	58063541	58063541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccttatgtgatataccGcaaagcccattgcctgctgc	8	12	0	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr14:58063541G>A	ENST00000339762.6	-	1	74	c.75C>T	c.(73-75)tgC>tgT	p.C25C	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000557430.1_Intron					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGATATACCGCAAAGCCCAT	0.418													False	0	False	14:58063541	0	A	58063541	G	A	58063541	2	1	113	1	0	0	0	0	0	0	0	1	14671	1079	38	1		1	SLC35F4	14	58063541	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		58063541	49285999	63	31191											
HERC2	8924	broad.mit.edu	37	chr15	28391388	28391388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcctgtccttacctgacCgcacggagacgatcctgttg	9	15	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr15:28391388C>T	ENST00000261609.7	-	71	11111	c.11003G>A	c.(11002-11004)cGg>cAg	p.R3668Q		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3668					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTACCTGACCGCACGGAGAC	0.557													False	0	False	15:28391388	0	T	28391388	C	T	28391388	3	4	113	1	0	0	0	0	1	0	0	0	7105	652	23	1	3593	1	HERC2	15	28391388	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		28391388	74140004	64	31192											
RYR3	6263	broad.mit.edu	37	chr15	33858937	33858937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacactgcagagatgccagcGtgaggagtcccaggctgctc	13	12	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr15:33858937G>A	ENST00000389232.4	+	12	1275	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	RYR3_ENST00000415757.3_Missense_Mutation_p.R402H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	402					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGATGCCAGCGTGAGGAGTCC	0.507													False	0	False	15:33858937	0	A	33858937	G	A	33858937	3	1	113	1	0	0	0	0	1	0	0	0	13849	1145	40	1	1251	1	RYR3	15	33858937	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	5467549	33858937	68672455	65	31193											
SPINT1	6692	broad.mit.edu	37	chr15	41146275	41146275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcccctccatggaaaggCgccatccaggtgggctttac	12	14	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr15:41146275C>T	ENST00000344051.4	+	6	1213	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	SPINT1_ENST00000562057.1_Missense_Mutation_p.R311C|SPINT1_ENST00000431806.1_Missense_Mutation_p.R311C			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	327						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CATGGAAAGGCGCCATCCAGG	0.587													False	0	False	15:41146275	0	T	41146275	C	T	41146275	3	4	113	1	0	0	0	0	1	0	0	0	15150	768	27	1	997	1	SPINT1	15	41146275	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	7287338	41146275	61385117	66	31194											
GTF3C1	2975	broad.mit.edu	37	chr16	27476061	27476061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttctctgtctttcagccGcacggagtgcaggagccaag	12	12	4	0	rs149738247		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:27476061G>A	ENST00000356183.4	-	34	5467	c.5452C>T	c.(5452-5454)Cgg>Tgg	p.R1818W	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1818W	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1818						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTTTCAGCCGCACGGAGTGC	0.672													False	0	False	16:27476061	0	A	27476061	G	A	27476061	3	1	113	1	0	0	0	0	1	0	0	0	6919	1086	38	1	893	1	GTF3C1	16	27476061	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		27476061	62878692	67	31195											
ITFG1	81533	broad.mit.edu	37	chr16	47196504	47196504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatggtcaagaaaatttgCgctccgacctaaaccaagca	9	10	1	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:47196504C>T	ENST00000320640.6	-	15	1753	c.1525G>A	c.(1525-1527)Gca>Aca	p.A509T	RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|RP11-329J18.2_ENST00000564705.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	509						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGAAAATTTGCGCTCCGACCT	0.358													False	0	False	16:47196504	0	T	47196504	C	T	47196504	3	4	113	1	0	0	0	0	1	0	0	0	7919	768	27	1	329	1	ITFG1	16	47196504	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	19720443	47196504	43158249	68	31196											
CBLN1	869	broad.mit.edu	37	chr16	49315201	49315201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagaaagccaccttggcgCtgccagagcgcacagagatg	13	12	0	3			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:49315201C>A	ENST00000219197.6	-	1	541	c.176G>T	c.(175-177)aGc>aTc	p.S59I	CBLN1_ENST00000536749.1_Missense_Mutation_p.S59I	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	59	C1q.				nervous system development|synaptic transmission	cell junction|extracellular region|synapse				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				CACCTTGGCGCTGCCAGAGCG	0.617													False	0	False	16:49315201	0	A	49315201	C	A	49315201	3	1	113	1	0	0	0	0	1	0	0	0	2724	797	28	3	417	3	CBLN1	16	49315201	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	2118697	49315201	41039552	69	31197											
SLC6A2	6530	broad.mit.edu	37	chr16	55690874	55690874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacctctgctacaagaacGgcggcggtgagcgtggggtc	15	12	1	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:55690874G>A	ENST00000379906.2	+	1	523	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	SLC6A2_ENST00000219833.8_Missense_Mutation_p.G90S|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G90S|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G90S	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	90					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTACAAGAACGGCGGCGGTGA	0.622													False	0	True	16:55690874	0	A	55690874	G	A	55690874	3	1	113	1	0	0	0	0	1	0	0	0	14763	1116	39	1	270	1	SLC6A2	16	55690874	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	6375673	55690874	34663879	70	31198											
HERPUD1	9709	broad.mit.edu	37	chr16	56973916	56973916	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcacaaccagtttccagctGaaaaccagcctgccaatcag	6	14	2	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:56973916G>T	ENST00000439977.2	+	6	861	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	HERPUD1_ENST00000379792.2_Nonsense_Mutation_p.E197*|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Nonsense_Mutation_p.E221*|HERPUD1_ENST00000344114.4_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	222						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						GTTTCCAGCTGAAAACCAGCC	0.507			T	ERG	prostate								False	0	True	16:56973916	0	T	56973916	G	T	56973916	4	4	113	1	0	0	0	0	0	1	0	0	7110	1291	45	3	686	3	HERPUD1	16	56973916	Nonsense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	1283042	56973916	33380837	71	31199											
TP53	7157	broad.mit.edu	37	chr17	7579315	7579316	+	Frame_Shift_Ins	INS	-	-	C													cctcagggcaactgaccgtgINScaagtcacagacttggctgt							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:7579315_7579316insC	ENST00000420246.2	-	4	503_504	c.371_372insG	c.(370-372)tgcfs	p.C124fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.C124fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	124	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AACTGACCGTGCAAGTCACAGA	0.545		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)			False	1	False	17:7579315	0	C	7579316	-	C	7579315	7	5	113	1	0	1	1	0	0	0	0	0	16464	1311	46	0	930	0	TP53	17	7579315	Frame_Shift_Ins	INS	-	TCGA-IB-AAUP-01A-11D-A377-08		7579315	73615895	72	31200											
EFTUD2	9343	broad.mit.edu	37	chr17	42937897	42937897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcaggaacacggttcAcctcgatgtggtacctgaag	12	11	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:42937897A>G	ENST00000426333.2	-	17	1919	c.1622T>C	c.(1621-1623)gTg>gCg	p.V541A	EFTUD2_ENST00000592576.1_Missense_Mutation_p.V531A|EFTUD2_ENST00000591382.1_Missense_Mutation_p.V541A|EFTUD2_ENST00000402521.3_Missense_Mutation_p.V506A	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	541						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AACACGGTTCACCTCGATGTG	0.433													False	0	False	17:42937897	0	G	42937897	A	G	42937897	3	3	113	1	0	0	0	0	1	0	0	0	4991	159	6	4	1344	4	EFTUD2	17	42937897	Missense_Mutation	SNP	A	TCGA-IB-AAUP-01A-11D-A377-08	35358582	42937897	38257313	73	31201											
CDC27	996	broad.mit.edu	37	chr17	45234401	45234401	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgggacagtatcaggtgaAattacagctgaatcaatata	10	5	2	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:45234401A>C	ENST00000066544.3	-	7	813	c.720T>G	c.(718-720)atT>atG	p.I240M	CDC27_ENST00000531206.1_Missense_Mutation_p.I240M|CDC27_ENST00000446365.2_Missense_Mutation_p.I179M|CDC27_ENST00000527547.1_Missense_Mutation_p.I240M	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	240					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TATCAGGTGAAATTACAGCTG	0.358													False	0	True	17:45234401	0	C	45234401	A	C	45234401	3	2	113	1	0	0	0	0	1	0	0	0	3089	10	1	4	1824	4	CDC27	17	45234401	Missense_Mutation	SNP	A	TCGA-IB-AAUP-01A-11D-A377-08	2296504	45234401	35960809	74	31202											
PITPNC1	26207	broad.mit.edu	37	chr17	65688807	65688807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccctgctgccttcttccGtccgcagtgcgccttctagt	8	18	2	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:65688807G>A	ENST00000335257.6	+	9	1149	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000581322.1_Missense_Mutation_p.V268I			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V268I(2)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCCTTCTTCCGTCCGCAGTGC	0.557													False	0	True	17:65688807	0	A	65688807	G	A	65688807	3	1	113	1	0	0	0	0	1	0	0	0	12018	1145	40	1	959	1	PITPNC1	17	65688807	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	20454406	65688807	15506403	75	31203											
RNF213	57674	broad.mit.edu	37	chr17	78351573	78351573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcacagcttgtcccaacGgccatccttgctccgtggga	9	15	2	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:78351573G>A	ENST00000582970.1	+	54	13665	c.13522G>A	c.(13522-13524)Ggc>Agc	p.G4508S	RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S|RNF213_ENST00000508628.2_Missense_Mutation_p.G4557S|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGTCCCAACGGCCATCCTTG	0.532													False	0	False	17:78351573	0	A	78351573	G	A	78351573	3	1	113	1	0	0	0	0	1	0	0	0	13556	1116	39	1	14051	1	RNF213	17	78351573	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	12662766	78351573	2843637	76	31204											
GALNT1	2589	broad.mit.edu	37	chr18	33243666	33243666	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcgtcattcctaaagaggatCaagaaaagatgaaagagatg	10	5	2	5			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr18:33243666C>G	ENST00000269195.5	+	2	317	c.214C>G	c.(214-216)Caa>Gaa	p.Q72E	GALNT1_ENST00000537549.1_Missense_Mutation_p.Q12E|GALNT1_ENST00000591081.1_Missense_Mutation_p.Q72E	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	72					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TAAAGAGGATCAAGAAAAGAT	0.373													False	0	False	18:33243666	0	G	33243666	C	G	33243666	3	3	113	1	0	0	0	0	1	0	0	0	6250	827	29	5	220	5	GALNT1	18	33243666	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		33243666	44833582	77	31205											
HDGFRP2	0	broad.mit.edu	37	chr19	4499495	4499495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggtggccagattcgccGttacaaagcgaacaaggacg	12	10	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:4499495G>A	ENST00000301284.4	+	14	1647	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R528H	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		528					transcription, DNA-dependent	nucleus	DNA binding|protein binding										CAGATTCGCCGTTACAAAGCG	0.622													False	0	False	19:4499495	0	A	4499495	G	A	4499495	3	1	113	1	0	0	0	0	1	0	0	0	7067	1145	40	1	1637	1	HDGFRP2	19	4499495	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		4499495	54629488	78	31206											
CLEC4M	10332	broad.mit.edu	37	chr19	7832511	7832511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggctcacctctgtcacCcaggtagattctgggagaaa	12	11	4	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:7832511C>T	ENST00000327325.5	+	6	1164	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	CLEC4M_ENST00000595496.1_Missense_Mutation_p.P213L|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P327L|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P298L|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P282L|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P337L|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P282L|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000357361.2_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	349	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CCTCTGTCACCCAGGTAGATT	0.577													False	0	True	19:7832511	0	T	7832511	C	T	7832511	3	4	113	1	0	0	0	0	1	0	0	0	3541	623	22	2	1089	2	CLEC4M	19	7832511	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	3333016	7832511	51296472	79	31207											
MUC16	94025	broad.mit.edu	37	chr19	9056276	9056276	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatgggtgatgaagatgtCctgcctggttggcttgaagt	14	5	0	4			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:9056276C>T	ENST00000397910.4	-	3	31373	c.31170G>A	c.(31168-31170)agG>agA	p.R10390R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10392	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGAAGATGTCCTGCCTGGTT	0.488													False	0	True	19:9056276	0	T	9056276	C	T	9056276	2	4	113	1	0	0	0	0	0	0	0	1	10040	854	30	2		2	MUC16	19	9056276	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	1223765	9056276	50072707	80	31208											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	113	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-IB-AAUP-01A-11D-A377-08	5027391	14083667	45045316	81	31209											
NCAN	1463	broad.mit.edu	37	chr19	19330065	19330065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgactctgggctgtacCgctgccaggtggtgaggggc	17	11	1	2	rs149283619		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:19330065C>T	ENST00000252575.6	+	3	514	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TGGGCTGTACCGCTGCCAGGT	0.677													False	0	False	19:19330065	0	T	19330065	C	T	19330065	3	4	113	1	0	0	0	0	1	0	0	0	10272	652	23	1	421	1	NCAN	19	19330065	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	5246398	19330065	39798918	82	31210											
ZFP82	284406	broad.mit.edu	37	chr19	36884959	36884959	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccactgggataaatttatttCataaatgtcattttctaaag	5	6	3	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:36884959C>T	ENST00000392161.3	-	5	525	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	ZFP82_ENST00000392171.1_Missense_Mutation_p.E95K	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAATTTATTTCATAAATGTCA	0.303													False	0	True	19:36884959	0	T	36884959	C	T	36884959	3	4	113	1	0	0	0	0	1	0	0	0	17736	835	29	2	1319	2	ZFP82	19	36884959	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	17554894	36884959	22244024	83	31211											
RYR1	6261	broad.mit.edu	37	chr19	38989876	38989876	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctgcgctttgctgtcttCgtcaacggtgaggagggggt	15	9	2	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:38989876C>T	ENST00000355481.4	+	43	7151	c.7020C>T	c.(7018-7020)ttC>ttT	p.F2340F	RYR1_ENST00000360985.3_Silent_p.F2340F|RYR1_ENST00000359596.3_Silent_p.F2340F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2340	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTGCTGTCTTCGTCAACGGTG	0.602													False	0	False	19:38989876	0	T	38989876	C	T	38989876	2	4	113	1	0	0	0	0	0	0	0	1	13847	883	31	1		1	RYR1	19	38989876	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	2104917	38989876	20139107	84	31212											
ZNF526	116115	broad.mit.edu	37	chr19	42730124	42730124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaccagctgacccatacGggtgcacgtccctaccaatg	9	17	0	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:42730124G>A	ENST00000301215.3	+	3	1794	c.1569G>A	c.(1567-1569)acG>acA	p.T523T		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGACCCATACGGGTGCACGTC	0.617													False	0	True	19:42730124	0	A	42730124	G	A	42730124	2	1	113	1	0	0	0	0	0	0	0	1	18050	1103	39	1		1	ZNF526	19	42730124	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	3740248	42730124	16398859	85	31213											
SLC27A5	10998	broad.mit.edu	37	chr19	59010223	59010223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggtacaacttctcccCgtcgaaagtctggccggggg	14	12	2	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:59010223C>T	ENST00000263093.2	-	9	1934	c.1825G>A	c.(1825-1827)Ggg>Agg	p.G609R	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G525R|SLC27A5_ENST00000599700.1_Intron|SLC27A5_ENST00000594786.1_Missense_Mutation_p.G14R	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	609					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AACTTCTCCCCGTCGAAAGTC	0.627													False	0	True	19:59010223	0	T	59010223	C	T	59010223	3	4	113	1	0	0	0	0	1	0	0	0	14609	652	23	1	255	1	SLC27A5	19	59010223	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	16280099	59010223	118760	86	31214											
KIF16B	55614	broad.mit.edu	37	chr20	16360516	16360516	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgttgagttctttgagtcGttggagttcttcttggacgc	13	6	3	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr20:16360516G>A	ENST00000354981.2	-	19	2288	c.2131C>T	c.(2131-2133)Cga>Tga	p.R711*	KIF16B_ENST00000355755.3_Nonsense_Mutation_p.R711*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.R711*|KIF16B_ENST00000378003.2_De_novo_Start_OutOfFrame	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	711	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTTTGAGTCGTTGGAGTTCT	0.443													False	0	False	20:16360516	0	A	16360516	G	A	16360516	4	1	113	1	0	0	0	0	0	1	0	0	8328	1153	40	1	1854	1	KIF16B	20	16360516	Nonsense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		16360516	46665004	87	31215											
RBM12	10137	broad.mit.edu	37	chr20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaggtattcctgcactggGcattcccgcaccaggcagtc	10	14	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557													False	0	True	20:34241168	0	A	34241168	G	A	34241168	3	1	113	1	0	0	0	0	1	0	0	0	13192	1203	42	2	725	2	RBM12	20	34241168	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	17880652	34241168	28784352	88	31216											
DSCAM	1826	broad.mit.edu	37	chr21	41719644	41719644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcggacagcttgtccttgCgcacaaagcactggtatgcg	13	11	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr21:41719644C>T	ENST00000400454.1	-	6	1640	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	388	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTGTCCTTGCGCACAAAGCA	0.502													False	0	False	21:41719644	0	T	41719644	C	T	41719644	3	4	113	1	0	0	0	0	1	0	0	0	4798	768	27	1	4987	1	DSCAM	21	41719644	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		41719644	6410251	89	31217											
DIP2A	23181	broad.mit.edu	37	chr21	47918690	47918690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcccagtgctgcagccaCgccgggggccgccgctacca	13	18	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr21:47918690C>T	ENST00000318711.7	+	5	782	c.599C>T	c.(598-600)aCg>aTg	p.T200M	DIP2A_ENST00000417564.2_Missense_Mutation_p.T200M|DIP2A_ENST00000466639.1_Missense_Mutation_p.T200M|DIP2A_ENST00000427143.2_Missense_Mutation_p.T136M|DIP2A_ENST00000457905.3_Missense_Mutation_p.T200M|DIP2A_ENST00000435722.3_Missense_Mutation_p.T200M|DIP2A_ENST00000400274.1_Missense_Mutation_p.T200M	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	200					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCTGCAGCCACGCCGGGGGCC	0.667													False	0	False	21:47918690	0	T	47918690	C	T	47918690	3	4	113	1	0	0	0	0	1	0	0	0	4557	536	19	1	617	1	DIP2A	21	47918690	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	6199046	47918690	211205	90	31218											
MYO18B	84700	broad.mit.edu	37	chr22	26423121	26423121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtcctctgtggacgatgCgggctgtccagaccttggaa	15	10	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr22:26423121C>T	ENST00000335473.7	+	43	7431	c.7181C>T	c.(7180-7182)gCg>gTg	p.A2394V	MYO18B_ENST00000536101.1_Missense_Mutation_p.A2394V|MYO18B_ENST00000407587.2_Missense_Mutation_p.A2395V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2394						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTGGACGATGCGGGCTGTCCA	0.587													False	0	True	22:26423121	0	T	26423121	C	T	26423121	3	4	113	1	0	0	0	0	1	0	0	0	10133	768	27	1	7347	1	MYO18B	22	26423121	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		26423121	24881445	91	31219											
MXRA5	25878	broad.mit.edu	37	chrX	3239037	3239037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttaaatgcatcctggtcGgaagagggtgttgataattc	12	5	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:3239037G>A	ENST00000217939.6	-	5	4843	c.4689C>T	c.(4687-4689)tcC>tcT	p.S1563S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1563						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATCCTGGTCGGAAGAGGGTG	0.453													False	0	False	X:3239037	0	A	3239037	G	A	3239037	2	1	113	1	0	0	0	0	0	0	0	1	10070	1103	39	1		1	MXRA5	23	3239037	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		3239037	152031523	92	31220											
OFD1	8481	broad.mit.edu	37	chrX	13778776	13778776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggggcacttcctccagaCgcctctcttccacacccctt	8	19	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:13778776C>T	ENST00000380567.1	+	17	2649	c.1777C>T	c.(1777-1779)Cgc>Tgc	p.R593C	OFD1_ENST00000340096.6_Missense_Mutation_p.R733C|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R693C			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	733					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTCCTCCAGACGCCTCTCTTC	0.567													False	0	False	X:13778776	0	T	13778776	C	T	13778776	3	4	113	1	0	0	0	0	1	0	0	0	10906	536	19	1	2259	1	OFD1	23	13778776	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	10539739	13778776	141491784	93	31221											
ATRX	546	broad.mit.edu	37	chrX	76938810	76938810	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcagattcctctaaaagTaatgaaacttcattttcaac	4	8	4	3			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:76938810T>C	ENST00000373344.5	-	9	2152	c.1938A>G	c.(1936-1938)ttA>ttG	p.L646L	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.L608L	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	646					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCTCTAAAAGTAATGAAACTT	0.403			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						False	0	False	X:76938810	0	C	76938810	T	C	76938810	2	2	113	1	0	0	0	0	0	0	0	1	1212	1635	57	4		4	ATRX	23	76938810	Silent	SNP	T	TCGA-IB-AAUP-01A-11D-A377-08	63160034	76938810	78331750	94	31222											
RPS6KA6	27330	broad.mit.edu	37	chrX	83361395	83361395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcactgcaaattccatgttgGtagttgcatgtatgcatcgc	9	9	1	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:83361395G>T	ENST00000262752.2	-	15	1350	c.1343C>A	c.(1342-1344)aCc>aAc	p.T448N	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.T448N|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	448	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTCCATGTTGGTAGTTGCATG	0.363													False	0	False	X:83361395	0	T	83361395	G	T	83361395	3	4	113	1	0	0	0	0	1	0	0	0	13734	1261	44	3	926	3	RPS6KA6	23	83361395	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	6422585	83361395	71909165	95	31223											
NRK	203447	broad.mit.edu	37	chrX	105167200	105167200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcactctctgaaatcttcCggaatgattggttaactccg	8	10	2	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:105167200C>T	ENST00000428173.2	+	18	3007	c.2704C>T	c.(2704-2706)Cgg>Tgg	p.R902W	NRK_ENST00000243300.9_Missense_Mutation_p.R901W			Q7Z2Y5	NRK_HUMAN	Nik related kinase	901							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGAAATCTTCCGGAATGATTG	0.438										HNSCC(51;0.14)			False	0	False	X:105167200	0	T	105167200	C	T	105167200	3	4	113	1	0	0	0	0	1	0	0	0	10723	643	23	1	2771	1	NRK	23	105167200	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	21805805	105167200	50103360	96	31224											
BCORL1	63035	broad.mit.edu	37	chrX	129173179	129173179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgctgtcctatggggccGatcccacactggctacctac	9	16	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:129173179G>A	ENST00000540052.1	+	9	4584	c.4540G>A	c.(4540-4542)Gat>Aat	p.D1514N	BCORL1_ENST00000303743.5_Missense_Mutation_p.D1588N|BCORL1_ENST00000218147.7_Missense_Mutation_p.D1514N|BCORL1_ENST00000359304.2_Missense_Mutation_p.D1384N	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1514					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTATGGGGCCGATCCCACACT	0.567													False	0	False	X:129173179	0	A	129173179	G	A	129173179	3	1	113	1	0	0	0	0	1	0	0	0	1391	1058	37	1	4800	1	BCORL1	23	129173179	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	24005979	129173179	26097381	97	31225											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	114	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-IB-AAUQ-01A-22D-A40W-08		22987385	226263236	1	31226											
EPHB2	2048	broad.mit.edu	37	chr1	23239043	23239043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtacaaggagagcttcGccaatgccggcttcacctcc	11	14	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:23239043G>A	ENST00000400191.3	+	15	2821	c.2803G>A	c.(2803-2805)Gcc>Acc	p.A935T	EPHB2_ENST00000374627.1_Missense_Mutation_p.A930T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A935T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A936T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	935	SAM.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGAGAGCTTCGCCAATGCCGG	0.592													False	0	False	1:23239043	0	A	23239043	G	A	23239043	3	1	114	1	0	0	0	0	1	0	0	0	5207	1087	38	1	2864	1	EPHB2	1	23239043	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	251658	23239043	226011578	2	31227											
RUNX3	864	broad.mit.edu	37	chr1	25229012	25229012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgctcgtgcccgagggCgtggcgctgtaggggaaggc	19	10	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:25229012C>T	ENST00000399916.1	-	6	1329	c.891G>A	c.(889-891)acG>acA	p.T297T	RUNX3_ENST00000308873.6_Silent_p.T283T|RUNX3_ENST00000540420.1_Silent_p.T190T|RUNX3_ENST00000338888.3_Silent_p.T297T	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	283	Pro/Ser/Thr-rich.			MP -> IS (in Ref. 2; CAA56093).	cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TGCCCGAGGGCGTGGCGCTGT	0.701													False	0	True	1:25229012	0	T	25229012	C	T	25229012	2	4	114	1	0	0	0	0	0	0	0	1	13828	755	27	1		1	RUNX3	1	25229012	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	1989969	25229012	224021609	3	31228											
ARHGEF11	9826	broad.mit.edu	37	chr1	156939813	156939813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggtctctggctggtgTcaccatatagtggaagtatg	13	7	2	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:156939813T>C	ENST00000368194.3	-	9	1764	c.725A>G	c.(724-726)gAc>gGc	p.D242G	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.D202G	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	202					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGCTGGTGTCACCATATAG	0.507													False	0	False	1:156939813	0	C	156939813	T	C	156939813	3	2	114	1	0	0	0	0	1	0	0	0	898	1667	58	4	4095	4	ARHGEF11	1	156939813	Missense_Mutation	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08	131710801	156939813	92310808	4	31229											
NFASC	23114	broad.mit.edu	37	chr1	204970416	204970416	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggttgagtacatcgacagTaagcattgctgtgcggggtg	16	6	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:204970416T>A	ENST00000367172.4	+	28	3785		c.e28+2		NFASC_ENST00000404076.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000401399.1_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000338586.6_Intron			O94856	NFASC_HUMAN	neurofascin						axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACATCGACAGTAAGCATTGCT	0.577													False	0	False	1:204970416	0	A	204970416	T	A	204970416	5	1	114	1	0	0	0	0	0	0	1	0	10427	1652	57	5	3645	5	NFASC	1	204970416	Splice_Site	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08	48030603	204970416	44280205	5	31230											
CR2	1380	broad.mit.edu	37	chr1	207640107	207640107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcccatagtaccaggaGgatacaaaattagaggctct	10	9	1	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:207640107G>A	ENST00000367057.3	+	2	484	c.295G>A	c.(295-297)Gga>Aga	p.G99R	CR2_ENST00000367058.3_Missense_Mutation_p.G99R|CR2_ENST00000458541.2_Missense_Mutation_p.G99R|CR2_ENST00000367059.3_Missense_Mutation_p.G99R	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	99	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.G99*(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGTACCAGGAGGATACAAAAT	0.408													False	0	False	1:207640107	0	A	207640107	G	A	207640107	3	1	114	1	0	0	0	0	1	0	0	0	3865	1001	35	2	301	2	CR2	1	207640107	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	2669691	207640107	41610514	6	31231											
PRSS38	339501	broad.mit.edu	37	chr1	228004950	228004950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacatgtacgtaggcctcGtaaacctcagggtggccggc	13	11	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:228004950G>A	ENST00000366757.3	+	3	376	c.352G>A	c.(352-354)Gta>Ata	p.V118I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	118	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGTAGGCCTCGTAAACCTCAG	0.552													False	0	False	1:228004950	0	A	228004950	G	A	228004950	3	1	114	1	0	0	0	0	1	0	0	0	12703	1145	40	1	362	1	PRSS38	1	228004950	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	20364843	228004950	21245671	7	31232											
OBSCN	84033	broad.mit.edu	37	chr1	228547344	228547344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcccacgtggccaacgaCggtcccccagcaagtccccc	10	19	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:228547344C>T	ENST00000284548.11	+	81	18825	c.18751C>T	c.(18751-18753)Cgg>Tgg	p.R6251W	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3370W	NM_052843.3	NP_443075.3	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6252					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCAACGACGGTCCCCCAG	0.672													False	0	False	1:228547344	0	T	228547344	C	T	228547344	3	4	114	1	0	0	0	0	1	0	0	0	10880	527	19	1	19069	1	OBSCN	1	228547344	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	542394	228547344	20703277	8	31233											
CAD	790	broad.mit.edu	37	chr2	27458194	27458194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtactggggaggtggccGgctttggggagagccgctgt	19	9	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:27458194G>A	ENST00000264705.4	+	24	4030	c.3868G>A	c.(3868-3870)Ggc>Agc	p.G1290S	CAD_ENST00000403525.1_Missense_Mutation_p.G1227S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1290	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGAGGTGGCCGGCTTTGGGGA	0.567													False	0	False	2:27458194	0	A	27458194	G	A	27458194	3	1	114	1	0	0	0	0	1	0	0	0	2585	1116	39	1	3962	1	CAD	2	27458194	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08		27458194	215741179	9	31234											
BIRC6	57448	broad.mit.edu	37	chr2	32774524	32774524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctcatcccagccatgTcatcttatctacgaaatgat	5	14	4	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:32774524T>C	ENST00000421745.2	+	65	13254	c.13120T>C	c.(13120-13122)Tca>Cca	p.S4374P		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4374					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCCAGCCATGTCATCTTATCT	0.393													False	0	False	2:32774524	0	C	32774524	T	C	32774524	3	2	114	1	0	0	0	0	1	0	0	0	1443	1667	58	4	13378	4	BIRC6	2	32774524	Missense_Mutation	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08	5316330	32774524	210424849	10	31235											
CFLAR	8837	broad.mit.edu	37	chr2	201994665	201994665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgctctttttgtgccGggatgttgctatagatgtgg	14	6	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:201994665G>A	ENST00000309955.3	+	2	592	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	CFLAR_ENST00000341222.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000395148.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000340870.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000342795.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000341582.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000440180.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000423241.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000457277.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000355558.4_Missense_Mutation_p.R26Q	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator		DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TTTTTGTGCCGGGATGTTGCT	0.478													False	0	True	2:201994665	0	A	201994665	G	A	201994665	3	1	114	1	0	0	0	0	1	0	0	0	3315	1116	39	1	79	1	CFLAR	2	201994665	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	169220141	201994665	41204708	11	31236											
TOP2B	7155	broad.mit.edu	37	chr3	25641006	25641006	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatgctttccttttctttgCccctcggcctttaccttaaa	5	13	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:25641006C>A	ENST00000435706.2	-	35	4816	c.4615G>T	c.(4615-4617)Gca>Tca	p.A1539S	TOP2B_ENST00000542520.1_Missense_Mutation_p.A396S|TOP2B_ENST00000264331.4_Missense_Mutation_p.A1544S|TOP2B_ENST00000540199.1_Missense_Mutation_p.A396S			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1544					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CTTTTCTTTGCCCCTCGGCCT	0.383													False	0	True	3:25641006	0	A	25641006	C	A	25641006	3	1	114	1	0	0	0	0	1	0	0	0	16449	739	26	3	258	3	TOP2B	3	25641006	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		25641006	172381424	12	31237											
LRIG1	26018	broad.mit.edu	37	chr3	66434562	66434562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcgtcgctcacgggcagCggggaaatccgtgcctccat	13	14	1	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:66434562C>T	ENST00000383703.3	-	15	2599	c.1996G>A	c.(1996-1998)Gct>Act	p.A666T	LRIG1_ENST00000273261.3_Missense_Mutation_p.A642T|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	642	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCACGGGCAGCGGGGAAATCC	0.562													False	0	True	3:66434562	0	T	66434562	C	T	66434562	3	4	114	1	0	0	0	0	1	0	0	0	9006	768	27	1	1381	1	LRIG1	3	66434562	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	40793556	66434562	131587868	13	31238											
CBLB	868	broad.mit.edu	37	chr3	105420979	105420979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatggcgtctgtgtttccGcataagcactgggtcagagc	12	10	3	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:105420979G>A	ENST00000264122.4	-	12	2239	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	CBLB_ENST00000403724.1_Missense_Mutation_p.R640W|CBLB_ENST00000405772.1_Missense_Mutation_p.R640W|CBLB_ENST00000394027.3_Missense_Mutation_p.R662W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	640	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTGTGTTTCCGCATAAGCACT	0.473			Mis S		AML								False	0	False	3:105420979	0	A	105420979	G	A	105420979	3	1	114	1	0	0	0	0	1	0	0	0	2721	1086	38	1	1062	1	CBLB	3	105420979	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	38986417	105420979	92601451	14	31239											
CCDC80	151887	broad.mit.edu	37	chr3	112324405	112324405	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccccagtgactgctgaatCgccatttcctgtctccgaag	8	14	1	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:112324405C>T	ENST00000206423.3	-	8	3665	c.2712G>A	c.(2710-2712)gcG>gcA	p.A904A	CCDC80_ENST00000439685.2_Silent_p.A904A	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	904										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ACTGCTGAATCGCCATTTCCT	0.473													False	0	False	3:112324405	0	T	112324405	C	T	112324405	2	4	114	1	0	0	0	0	0	0	0	1	2875	871	31	1		1	CCDC80	3	112324405	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	6903426	112324405	85698025	15	31240											
KALRN	8997	broad.mit.edu	37	chr3	123953690	123953690	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagggggtcgtgataagCgaggcggacccatcctgacc	15	11	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:123953690C>T	ENST00000360013.3	+	3	284	c.157C>T	c.(157-159)Cga>Tga	p.R53*	KALRN_ENST00000240874.3_Nonsense_Mutation_p.R53*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.R53*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	53	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCGTGATAAGCGAGGCGGACC	0.507													False	0	False	3:123953690	0	T	123953690	C	T	123953690	4	4	114	1	0	0	0	0	0	1	0	0	8025	760	27	1	167	1	KALRN	3	123953690	Nonsense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	11629285	123953690	74068740	16	31241											
OPA1	4976	broad.mit.edu	37	chr3	193374974	193374974	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttaaagaggctgttaaggaaGaaagtattaaacgacacaag	10	4	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:193374974G>C	ENST00000361510.2	+	23	2518	c.2284G>C	c.(2284-2286)Gaa>Caa	p.E762Q	OPA1_ENST00000361908.3_Missense_Mutation_p.E744Q|OPA1_ENST00000392438.3_Missense_Mutation_p.E707Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E708Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E726Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E725Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	707					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TGTTAAGGAAGAAAGTATTAA	0.383													False	0	True	3:193374974	0	C	193374974	G	C	193374974	3	2	114	1	0	0	0	0	1	0	0	0	10939	943	33	5	2374	5	OPA1	3	193374974	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	69421284	193374974	4647456	17	31242											
EVC	2121	broad.mit.edu	37	chr4	5755572	5755572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaccaggtggagggaaCggcaaaactcacgctggccc	14	13	2	0	rs146028983		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr4:5755572C>T	ENST00000382674.2	+	10	1560	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	EVC_ENST00000509451.1_Missense_Mutation_p.T459M|EVC_ENST00000264956.6_Missense_Mutation_p.T459M			P57679	EVC_HUMAN	Ellis van Creveld syndrome	459					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GTGGAGGGAACGGCAAAACTC	0.567													False	0	False	4:5755572	0	T	5755572	C	T	5755572	3	4	114	1	0	0	0	0	1	0	0	0	5317	536	19	1	1414	1	EVC	4	5755572	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		5755572	185398704	18	31243											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	114	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-IB-AAUQ-01A-22D-A40W-08	34679133	40434705	150719571	19	31244											
DNAH5	1767	broad.mit.edu	37	chr5	13766211	13766211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaaacagcagcagtacGcaatccatgatccgcatgat	8	11	0	3			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:13766211G>A	ENST00000265104.4	-	59	10079	c.9975C>T	c.(9973-9975)tgC>tgT	p.C3325C	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3325	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGCAGTACGCAATCCATGA	0.517									Kartagener syndrome				False	0	False	5:13766211	0	A	13766211	G	A	13766211	2	1	114	1	0	0	0	0	0	0	0	1	4634	1079	38	1		1	DNAH5	5	13766211	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08		13766211	167149049	20	31245											
SPEF2	79925	broad.mit.edu	37	chr5	35771762	35771762	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaaaaagaaaaccagCcagcagaccccaaagaaaaa	7	9	0	5			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:35771762C>A	ENST00000440995.2	+	27	3838	c.3838C>A	c.(3838-3840)Cca>Aca	p.P1280T	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.P1285T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1285					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAAACCAGCCAGCAGACCC	0.383													False	0	True	5:35771762	0	A	35771762	C	A	35771762	3	1	114	1	0	0	0	0	1	0	0	0	15117	739	26	3	3980	3	SPEF2	5	35771762	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	22005551	35771762	145143498	21	31246											
LIFR	3977	broad.mit.edu	37	chr5	38493808	38493808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacttaatgacgtagtcGcaagtcatgttggggtcgta	11	9	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:38493808G>A	ENST00000263409.4	-	14	2127	c.1965C>T	c.(1963-1965)tgC>tgT	p.C655C	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.C655C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	655	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGACGTAGTCGCAAGTCATGT	0.443			T	PLAG1	salivary adenoma								False	0	False	5:38493808	0	A	38493808	G	A	38493808	2	1	114	1	0	0	0	0	0	0	0	1	8832	1079	38	1		1	LIFR	5	38493808	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	2722046	38493808	142421452	22	31247											
CMYA5	202333	broad.mit.edu	37	chr5	79024983	79024983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgaagtgaaaaaggttcGgaaaaggactcataagtcaa	12	4	2	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:79024983G>A	ENST00000446378.2	+	2	426	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	132						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAAGGTTCGGAAAAGGACT	0.408													False	0	False	5:79024983	0	A	79024983	G	A	79024983	3	1	114	1	0	0	0	0	1	0	0	0	3613	1116	39	1	401	1	CMYA5	5	79024983	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	40531175	79024983	101890277	23	31248											
MYOT	9499	broad.mit.edu	37	chr5	137217667	137217667	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaatattcttgtagaagtaGatcaacctcaaggggagatg	10	5	3	3			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:137217667G>A	ENST00000239926.4	+	6	1063	c.689G>A	c.(688-690)aGa>aAa	p.R230K	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.R115K|MYOT_ENST00000421631.2_Missense_Mutation_p.R46K|MYOT_ENST00000509812.1_Intron	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	230	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTAGAAGTAGATCAACCTCA	0.338													False	0	False	5:137217667	0	A	137217667	G	A	137217667	3	1	114	1	0	0	0	0	1	0	0	0	10161	942	33	2	707	2	MYOT	5	137217667	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	58192684	137217667	43697593	24	31249											
PCDHA6	0	broad.mit.edu	37	chr5	140209287	140209287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtttcaggtgagcgcGcgcgacgcgggcgtgccgcc	17	14	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140209287G>A	ENST00000529310.1	+	1	1725	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.682													False	0	True	5:140209287	0	A	140209287	G	A	140209287	2	1	114	1	0	0	0	0	0	0	0	1	11596	1074	38	1		1	PCDHA6	5	140209287	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	2991620	140209287	40705973	25	31250											
PCDHA11	0	broad.mit.edu	37	chr5	140248986	140248986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctgtgcgggcagagcGcggagtgcagcatccacctg	17	11	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140248986G>A	ENST00000398640.2	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCAGAGCGCGGAGTGCAG	0.562													False	0	False	5:140248986	0	A	140248986	G	A	140248986	3	1	114	1	0	0	0	0	1	0	0	0	11589	1087	38	1	300	1	PCDHA11	5	140248986	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	39699	140248986	40666274	26	31251											
PCDHB6	0	broad.mit.edu	37	chr5	140532201	140532201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaaacccccacctctcGgaatagcttcccgttcagtt	8	14	2	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140532201G>A	ENST00000231136.1	+	1	2363	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R652Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		788					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCACCTCTCGGAATAGCTTC	0.418													False	0	False	5:140532201	0	A	140532201	G	A	140532201	3	1	114	1	0	0	0	0	1	0	0	0	11614	1116	39	1	2365	1	PCDHB6	5	140532201	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	283215	140532201	40383059	27	31252											
PCDHGA4	0	broad.mit.edu	37	chr5	140734960	140734960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggcggagcgcggagtcCgcatcgtctccagaggtagg	17	11	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140734960C>T	ENST00000571252.1	+	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTCCGCATCGTCTC	0.647													False	0	False	5:140734960	0	T	140734960	C	T	140734960	3	4	114	1	0	0	0	0	1	0	0	0	11624	652	23	1	195	1	PCDHGA4	5	140734960	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	202759	140734960	40180300	28	31253											
FOXI1	2299	broad.mit.edu	37	chr5	169533031	169533031	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agttccccagcatcggccagGagccccccgagatgaacctc	10	17	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:169533031G>C	ENST00000449804.2	+	1	115	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	FOXI1_ENST00000306268.6_Missense_Mutation_p.E24Q	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	24	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCGGCCAGGAGCCCCCCGA	0.701									Pendred syndrome				False	0	False	5:169533031	0	C	169533031	G	C	169533031	3	2	114	1	0	0	0	0	1	0	0	0	6051	1175	41	5	72	5	FOXI1	5	169533031	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	28798071	169533031	11382229	29	31254											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	114	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-AAUQ-01A-22D-A40W-08		7393450	163721617	30	31255											
GLO1	2739	broad.mit.edu	37	chr6	38650584	38650584	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaaaacaggcaaacttacCgaatcctcgagggtctgaat	8	9	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:38650584C>T	ENST00000373365.4	-	4	462	c.376G>A	c.(376-378)Ggt>Agt	p.G126S	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	126					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	GCAAACTTACCGAATCCTCGA	0.338													False	0	False	6:38650584	0	T	38650584	C	T	38650584	5	4	114	1	0	0	0	0	0	0	1	0	6494	666	23	1	190	1	GLO1	6	38650584	Splice_Site	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	31257134	38650584	132464483	31	31256											
ARHGAP18	93663	broad.mit.edu	37	chr6	129920398	129920398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgcttttcatatttttctCggtcataagccattttcttc	4	10	4	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:129920398C>T	ENST00000368149.2	-	12	1764	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	559					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		ATATTTTTCTCGGTCATAAGC	0.294													False	0	False	6:129920398	0	T	129920398	C	T	129920398	3	4	114	1	0	0	0	0	1	0	0	0	870	884	31	1	331	1	ARHGAP18	6	129920398	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	91269814	129920398	41194669	32	31257											
FNDC1	84624	broad.mit.edu	37	chr6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-													agcagtcggtctcagccgagGacgacgaggaggaggacgcg							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65													False	2	False	6:159655079	0	-	159655081	GAC	-	159655079	7	5	114	1	0	1	0	1	0	0	0	0	6008	1174	41	0	3577	0	FNDC1	6	159655079	In_Frame_Del	DEL	GAC	TCGA-IB-AAUQ-01A-22D-A40W-08	29734681	159655079	11459988	33	31258											
GLI3	2737	broad.mit.edu	37	chr7	42017203	42017203	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttggcgcgatcagaggcaTttgagaaagccttgttgcaa	13	7	1	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:42017203T>G	ENST00000395925.3	-	12	1850	c.1766A>C	c.(1765-1767)aAt>aCt	p.N589T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	589					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATCAGAGGCATTTGAGAAAGC	0.468									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	7:42017203	0	G	42017203	T	G	42017203	3	3	114	1	0	0	0	0	1	0	0	0	6484	1493	52	4	2992	4	GLI3	7	42017203	Missense_Mutation	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08		42017203	117121460	34	31259											
DTX2	113878	broad.mit.edu	37	chr7	76112193	76112193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactggccccgtgtcaggcCgctaccgccactccatgacc	10	18	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:76112193C>T	ENST00000324432.5	+	5	1147	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	DTX2_ENST00000307569.8_Missense_Mutation_p.R213C|DTX2_ENST00000413936.2_Missense_Mutation_p.R213C|DTX2_ENST00000446600.1_Missense_Mutation_p.R122C|DTX2_ENST00000446820.2_Missense_Mutation_p.R213C|DTX2_ENST00000430490.2_Missense_Mutation_p.R213C	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	213					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CGTGTCAGGCCGCTACCGCCA	0.662													False	0	False	7:76112193	0	T	76112193	C	T	76112193	3	4	114	1	0	0	0	0	1	0	0	0	4824	652	23	1	643	1	DTX2	7	76112193	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	34094990	76112193	83026470	35	31260											
PCLO	27445	broad.mit.edu	37	chr7	82791717	82791717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcttcccttgggcagcccCtgcgcccttgacatgacagc	10	17	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:82791717C>T	ENST00000333891.9	-	1	529	c.192G>A	c.(190-192)caG>caA	p.Q64Q	PCLO_ENST00000423517.2_Silent_p.Q64Q	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGGCAGCCCCTGCGCCCTTG	0.632													False	0	True	7:82791717	0	T	82791717	C	T	82791717	2	4	114	1	0	0	0	0	0	0	0	1	11651	680	24	2		2	PCLO	7	82791717	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	6679524	82791717	76346946	36	31261											
ASB4	51666	broad.mit.edu	37	chr7	95115286	95115286	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagagggagaggaaggatGgacggcaccactgcccctgt	15	11	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:95115286G>A	ENST00000325885.5	+	1	74	c.3G>A	c.(1-3)atG>atA	p.M1I	ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Start_Codon_SNP_p.M1I	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	1					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GAGGAAGGATGGACGGCACCA	0.483													False	0	False	7:95115286	0	A	95115286	G	A	95115286	1	1	114	1	0	0	0	0	0	0	0	0	1029	1348	47	2		2	ASB4	7	95115286	Translation_Start_Site	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	12323569	95115286	64023377	37	31262											
MUC17	140453	broad.mit.edu	37	chr7	100685064	100685064	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aacctcaactactagtgaagGaagcactccattatcaatta	5	10	2	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:100685064G>C	ENST00000306151.4	+	3	10431	c.10367G>C	c.(10366-10368)gGa>gCa	p.G3456A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3456	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTAGTGAAGGAAGCACTCCA	0.512													False	0	True	7:100685064	0	C	100685064	G	C	100685064	3	2	114	1	0	0	0	0	1	0	0	0	10041	1174	41	5	10377	5	MUC17	7	100685064	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	5569778	100685064	58453599	38	31263											
CNTNAP2	26047	broad.mit.edu	37	chr7	147869372	147869372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcttcctgggctgcatcCgctccttgaggatgaatggg	15	10	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:147869372C>T	ENST00000361727.3	+	18	3328	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	938	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGGCTGCATCCGCTCCTTGAG	0.542										HNSCC(39;0.1)			False	0	False	7:147869372	0	T	147869372	C	T	147869372	3	4	114	1	0	0	0	0	1	0	0	0	3670	652	23	1	2882	1	CNTNAP2	7	147869372	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	47184308	147869372	11269291	39	31264											
KCNH2	3757	broad.mit.edu	37	chr7	150656796	150656796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgttcttcacgggcacCacatccaccagacataggaa	7	15	2	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:150656796C>T	ENST00000392968.2	-	1	1168	c.48G>A	c.(46-48)gtG>gtA	p.V16V	KCNH2_ENST00000262186.5_Silent_p.V112V|KCNH2_ENST00000430723.3_Silent_p.V112V			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	112					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TCACGGGCACCACATCCACCA	0.582													False	0	False	7:150656796	0	T	150656796	C	T	150656796	2	4	114	1	0	0	0	0	0	0	0	1	8082	581	21	2		2	KCNH2	7	150656796	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	2787424	150656796	8481867	40	31265											
CSPP1	79848	broad.mit.edu	37	chr8	67998296	67998296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agactatgaacggaagaaacAtaaattaaaagaagaattgc	8	4	0	5			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:67998296A>T	ENST00000262210.5	+	4	393	c.362A>T	c.(361-363)cAt>cTt	p.H121L	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	121						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CGGAAGAAACATAAATTAAAA	0.313													False	0	False	8:67998296	0	T	67998296	A	T	67998296	3	4	114	1	0	0	0	0	1	0	0	0	3987	217	8	5	376	5	CSPP1	8	67998296	Missense_Mutation	SNP	A	TCGA-IB-AAUQ-01A-22D-A40W-08		67998296	78365726	41	31266											
KCNB2	9312	broad.mit.edu	37	chr8	73848876	73848876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttacaaggagcagaaacGccaagagaaagcaattaaaa	9	6	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:73848876G>A	ENST00000523207.1	+	3	1874	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	429					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAGCAGAAACGCCAAGAGAAA	0.443													False	0	False	8:73848876	0	A	73848876	G	A	73848876	3	1	114	1	0	0	0	0	1	0	0	0	8063	1087	38	1	1292	1	KCNB2	8	73848876	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	5850580	73848876	72515146	42	31267											
PYCRL	65263	broad.mit.edu	37	chr8	144688047	144688047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgcagcagcatcttggcCgtcccctgaggagagcgtta	13	12	1	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:144688047C>T	ENST00000220966.6	-	6	713	c.684G>A	c.(682-684)acG>acA	p.T228T	PYCRL_ENST00000377579.3_Silent_p.T79T|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	216					proline biosynthetic process		pyrroline-5-carboxylate reductase activity			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCATCTTGGCCGTCCCCTGAG	0.687													False	0	False	8:144688047	0	T	144688047	C	T	144688047	2	4	114	1	0	0	0	0	0	0	0	1	12936	639	23	1		1	PYCRL	8	144688047	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	70839171	144688047	1675975	43	31268											
SMARCA2	6595	broad.mit.edu	37	chr9	2054681	2054681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttaagaaccaaagcaacCgtggaactaaaagcacttcg	8	9	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:2054681C>T	ENST00000382203.1	+	6	1340	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	SMARCA2_ENST00000382194.1_Silent_p.T377T|SMARCA2_ENST00000349721.2_Silent_p.T377T|SMARCA2_ENST00000357248.2_Silent_p.T377T			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	377					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCAAAGCAACCGTGGAACTAA	0.403													False	0	False	9:2054681	0	T	2054681	C	T	2054681	2	4	114	1	0	0	0	0	0	0	0	1	14849	639	23	1		1	SMARCA2	9	2054681	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		2054681	139158750	44	31269											
GBA2	57704	broad.mit.edu	37	chr9	35738753	35738753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtgcatcccttactagaCacacaggccacatgtccttc	6	15	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:35738753C>T	ENST00000378094.4	-	12	2456	c.1943G>A	c.(1942-1944)tGt>tAt	p.C648Y	GBA2_ENST00000378103.3_Missense_Mutation_p.C648Y|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.C654Y			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	648					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTACTAGACACACAGGCCA	0.522													False	0	True	9:35738753	0	T	35738753	C	T	35738753	3	4	114	1	0	0	0	0	1	0	0	0	6310	478	17	2	864	2	GBA2	9	35738753	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	33684072	35738753	105474678	45	31270											
PAPPA	5069	broad.mit.edu	37	chr9	119106961	119106961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctacgtgctccagataCggcgggatgatgagctgatc	14	10	0	4			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:119106961C>T	ENST00000328252.3	+	14	4120	c.3751C>T	c.(3751-3753)Cgg>Tgg	p.R1251W	PAPPA_ENST00000534838.1_Missense_Mutation_p.R289W	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1251	Sushi 1.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTCCAGATACGGCGGGATGA	0.577													False	0	False	9:119106961	0	T	119106961	C	T	119106961	3	4	114	1	0	0	0	0	1	0	0	0	11500	527	19	1	3805	1	PAPPA	9	119106961	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	83368208	119106961	22106470	46	31271											
ODF2	4957	broad.mit.edu	37	chr9	131246280	131246280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcgtgggcatttgcagGcacagcttcggtccaaagag	13	11	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:131246280G>A	ENST00000434106.3	+	11	1414	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	ODF2_ENST00000393527.3_Missense_Mutation_p.A327T|ODF2_ENST00000372814.3_Missense_Mutation_p.A395T|ODF2_ENST00000546203.1_Missense_Mutation_p.A332T|ODF2_ENST00000372807.5_Missense_Mutation_p.A346T|ODF2_ENST00000351030.3_Missense_Mutation_p.A346T|ODF2_ENST00000393533.2_Missense_Mutation_p.A351T|ODF2_ENST00000372791.3_Missense_Mutation_p.A332T|ODF2_ENST00000444119.2_Missense_Mutation_p.A327T|ODF2_ENST00000604420.1_Missense_Mutation_p.A351T|ODF2_ENST00000448249.3_Missense_Mutation_p.A270T	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	p.A327T(1)|p.A351T(1)|p.A395T(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCATTTGCAGGCACAGCTTCG	0.532													False	0	False	9:131246280	0	A	131246280	G	A	131246280	3	1	114	1	0	0	0	0	1	0	0	0	10895	1203	42	2	1144	2	ODF2	9	131246280	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	12139319	131246280	9967151	47	31272											
TUBB8	347688	broad.mit.edu	37	chr10	93797	93797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgttgtagggctccaccaCggtgtccgacaccttgggcg	15	13	0	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:93797C>T	ENST00000447903.2	-	4	634	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.V179M			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	179					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGCTCCACCACGGTGTCCGAC	0.522													False	0	False	10:93797	0	T	93797	C	T	93797	3	4	114	1	0	0	0	0	1	0	0	0	16845	536	19	1	803	1	TUBB8	10	93797	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		93797	135440950	48	31273											
ZNF438	220929	broad.mit.edu	37	chr10	31137813	31137813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttgcagacgtgacatctGtgccaaggcttcttaatgcc	11	10	2	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:31137813G>A	ENST00000452305.1	-	8	2054	c.1491C>T	c.(1489-1491)caC>caT	p.H497H	ZNF438_ENST00000442986.1_Silent_p.H507H|ZNF438_ENST00000538351.2_Silent_p.H458H|ZNF438_ENST00000331737.6_Silent_p.H497H|ZNF438_ENST00000361310.3_Silent_p.H507H|ZNF438_ENST00000413025.1_Silent_p.H507H|ZNF438_ENST00000375311.1_Silent_p.H71H|ZNF438_ENST00000444692.2_Silent_p.H497H|ZNF438_ENST00000436087.2_Silent_p.H507H	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CGTGACATCTGTGCCAAGGCT	0.483													False	0	False	10:31137813	0	A	31137813	G	A	31137813	2	1	114	1	0	0	0	0	0	0	0	1	17993	1368	48	2		2	ZNF438	10	31137813	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	31044016	31137813	104396934	49	31274											
TRUB1	142940	broad.mit.edu	37	chr10	116698211	116698211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttggctaccaagctgctgTccttgagcggcgtgttcgcc	12	13	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:116698211T>C	ENST00000298746.3	+	1	260	c.199T>C	c.(199-201)Tcc>Ccc	p.S67P	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	67					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAAGCTGCTGTCCTTGAGCGG	0.662													False	0	False	10:116698211	0	C	116698211	T	C	116698211	3	2	114	1	0	0	0	0	1	0	0	0	16685	1667	58	4	201	4	TRUB1	10	116698211	Missense_Mutation	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08	85560398	116698211	18836536	50	31275											
EIF3A	8661	broad.mit.edu	37	chr10	120801997	120801997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtggtctgtcatcatccGcatgacgccagtttcccctg	10	13	3	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:120801997G>A	ENST00000369144.3	-	19	3162	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1012	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTCATCATCCGCATGACGCCA	0.572													False	0	False	10:120801997	0	A	120801997	G	A	120801997	3	1	114	1	0	0	0	0	1	0	0	0	5042	1087	38	1	1129	1	EIF3A	10	120801997	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	4103786	120801997	14732750	51	31276											
FADS3	3995	broad.mit.edu	37	chr11	61645989	61645989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctccccacccacctcgaCggatgactcccccaggagga	8	20	0	1	rs144099007		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:61645989C>T	ENST00000540820.1	-	5	814	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	FADS3_ENST00000278829.2_Missense_Mutation_p.V248I|FADS3_ENST00000525588.1_Missense_Mutation_p.V220I|FADS3_ENST00000527697.1_Missense_Mutation_p.V124I			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	248					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCACCTCGACGGATGACTCC	0.647													False	0	False	11:61645989	0	T	61645989	C	T	61645989	3	4	114	1	0	0	0	0	1	0	0	0	5403	536	19	1	627	1	FADS3	11	61645989	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		61645989	73360527	52	31277											
MEN1	0	broad.mit.edu	37	chr11	64572244	64572244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacggctcctcggcctcGgccgcctcggcctctcggct	11	22	1	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:64572244G>A	ENST00000337652.1	-	10	1913	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A	MEN1_ENST00000377321.1_Silent_p.A430A|MEN1_ENST00000315422.4_Silent_p.A465A|MEN1_ENST00000312049.6_Silent_p.A465A|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Silent_p.A465A|MEN1_ENST00000377316.2_Silent_p.A410A|MEN1_ENST00000443283.1_Silent_p.A470A|MEN1_ENST00000394376.1_Silent_p.A470A|MEN1_ENST00000377313.1_Silent_p.A470A|MEN1_ENST00000394374.2_Silent_p.A470A	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	470					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCTCGGCCTCGGCCGCCTCGG	0.726			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				False	0	True	11:64572244	0	A	64572244	G	A	64572244	2	1	114	1	0	0	0	0	0	0	0	1	9539	1103	39	1		1	MEN1	11	64572244	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	2926255	64572244	70434272	53	31278											
DRD2	1813	broad.mit.edu	37	chr11	113295218	113295218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccatgcacaccagcacGttgccgaagacgatgacagc	10	14	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:113295218G>A	ENST00000362072.3	-	2	500	c.156C>T	c.(154-156)aaC>aaT	p.N52N	DRD2_ENST00000542968.1_Silent_p.N52N|DRD2_ENST00000355319.2_Silent_p.N52N|DRD2_ENST00000538967.1_Silent_p.N52N|DRD2_ENST00000544518.1_Silent_p.N52N|DRD2_ENST00000346454.3_Silent_p.N52N|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	52					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.N52N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ACACCAGCACGTTGCCGAAGA	0.627													False	0	False	11:113295218	0	A	113295218	G	A	113295218	2	1	114	1	0	0	0	0	0	0	0	1	4787	1136	40	1		1	DRD2	11	113295218	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	48722974	113295218	21711298	54	31279											
KLRC3	3823	broad.mit.edu	37	chr12	10568367	10568367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtagcattgcacagttaCgttcagcatgatctgagtct	9	9	3	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:10568367C>T	ENST00000396439.2	-	6	658	c.614G>A	c.(613-615)cGt>cAt	p.R205H	KLRC3_ENST00000381904.2_Missense_Mutation_p.R205H|NKG2-E_ENST00000539033.1_Missense_Mutation_p.R205H|KLRC3_ENST00000381903.2_Missense_Mutation_p.R205H	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGCACAGTTACGTTCAGCATG	0.368													False	0	False	12:10568367	0	T	10568367	C	T	10568367	3	4	114	1	0	0	0	0	1	0	0	0	8467	536	19	1	212	1	KLRC3	12	10568367	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		10568367	123283528	55	31280											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	114	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	14829917	25398284	108453611	56	31281											
PDZRN4	29951	broad.mit.edu	37	chr12	41966623	41966623	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacattgagcttgagtgtcAgaatatcatgcaggctcaca	9	8	3	3			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:41966623A>C	ENST00000298919.7	+	10	1650	c.1262A>C	c.(1261-1263)cAg>cCg	p.Q421P	PDZRN4_ENST00000402685.2_Missense_Mutation_p.Q681P|PDZRN4_ENST00000539469.2_Missense_Mutation_p.Q423P			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	681	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTTGAGTGTCAGAATATCATG	0.453													False	0	False	12:41966623	0	C	41966623	A	C	41966623	3	2	114	1	0	0	0	0	1	0	0	0	11778	188	7	4	2153	4	PDZRN4	12	41966623	Missense_Mutation	SNP	A	TCGA-IB-AAUQ-01A-22D-A40W-08	16568339	41966623	91885272	57	31282											
KRT78	196374	broad.mit.edu	37	chr12	53242653	53242653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctgcggccccttgagCgagcagaacaggctgagcga	14	14	0	3			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:53242653C>T	ENST00000304620.4	-	1	125	c.62G>A	c.(61-63)cGc>cAc	p.R21H		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	21	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GCCCCTTGAGCGAGCAGAACA	0.647													False	0	True	12:53242653	0	T	53242653	C	T	53242653	3	4	114	1	0	0	0	0	1	0	0	0	8541	768	27	1	1536	1	KRT78	12	53242653	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	11276030	53242653	80609242	58	31283											
MAP3K12	7786	broad.mit.edu	37	chr12	53881021	53881022	+	Frame_Shift_Ins	INS	-	-	GTGCTTCAGTAGATGAACAGTGTTAT													ctgcccaccaaggggtaccaINScatctcgaagtacacactgg							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:53881021_53881022insGTGCTTCAGTAGATGAACAGTGTTAT	ENST00000547035.1	-	2	358_359	c.154_155insATAACACTGTTCATCTACTGAAGCAC	c.(154-156)gtgfs	p.V52fs	MAP3K12_ENST00000547488.1_Frame_Shift_Ins_p.V52fs|MAP3K12_ENST00000267079.2_Intron|MAP3K12_ENST00000547151.1_Intron			Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	46					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AAGGGGTACCACATCTCGAAGT	0.619													False	0	False	12:53881021	0	GTGCTTCAGTAGATGAACAGTGTTAT	53881022	-	GTGCTTCAGTAGATGAACAGTGTTAT	53881021	7	5	114	1	0	1	1	0	0	0	0	0	9313	174	6	0		0	MAP3K12	12	53881021	Frame_Shift_Ins	INS	-	TCGA-IB-AAUQ-01A-22D-A40W-08	638368	53881021	79970874	59	31284											
RDH5	5959	broad.mit.edu	37	chr12	56118220	56118220	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccccgaacccgctacagccCaggttgggatgccaagctgc	11	17	0	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:56118220C>A	ENST00000257895.5	+	5	1000	c.848C>A	c.(847-849)cCa>cAa	p.P283Q	RDH5_ENST00000547072.1_Missense_Mutation_p.P186Q|RDH5_ENST00000548082.1_Missense_Mutation_p.P283Q|RP11-644F5.10_ENST00000550412.1_3'UTR	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	283					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity	p.Y281fs*>29(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	CGCTACAGCCCAGGTTGGGAT	0.632											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	12:56118220	0	A	56118220	C	A	56118220	3	1	114	1	0	0	0	0	1	0	0	0	13274	594	21	3	862	3	RDH5	12	56118220	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	2237199	56118220	77733675	60	31285											
DPY19L2	283417	broad.mit.edu	37	chr12	64041124	64041124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattattcccatgaatgtgcAataccaggaggctatgatta	8	8	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:64041124A>G	ENST00000324472.4	-	5	793	c.610T>C	c.(610-612)Tgc>Cgc	p.C204R	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	204					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATGAATGTGCAATACCAGGAG	0.303													False	0	False	12:64041124	0	G	64041124	A	G	64041124	3	3	114	1	0	0	0	0	1	0	0	0	4771	130	5	4	1738	4	DPY19L2	12	64041124	Missense_Mutation	SNP	A	TCGA-IB-AAUQ-01A-22D-A40W-08	7922904	64041124	69810771	61	31286											
OAS2	0	broad.mit.edu	37	chr12	113442853	113442853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacgagcggcacaaaatcGtcaaggaaatccatgaacag	9	9	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:113442853G>A	ENST00000392583.2	+	7	1501	c.1294G>A	c.(1294-1296)Gtc>Atc	p.V432I	OAS2_ENST00000342315.4_Missense_Mutation_p.V432I|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	432	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCACAAAATCGTCAAGGAAAT	0.507													False	0	False	12:113442853	0	A	113442853	G	A	113442853	3	1	114	1	0	0	0	0	1	0	0	0	10868	1145	40	1	1391	1	OAS2	12	113442853	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	49401729	113442853	20409042	62	31287											
TUBA3C	7278	broad.mit.edu	37	chr13	19751261	19751261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcattggtgatctcagccaCggacagctgctcgtggtagg	15	10	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:19751261C>T	ENST00000400113.3	-	4	966	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	288					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCAGCCACGGACAGCTGC	0.607													False	0	False	13:19751261	0	T	19751261	C	T	19751261	3	4	114	1	0	0	0	0	1	0	0	0	16830	536	19	1	498	1	TUBA3C	13	19751261	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		19751261	95418617	63	31288											
FRY	10129	broad.mit.edu	37	chr13	32850630	32850630	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtggacttctggacaagctCaagttcagtgtgttagaact	11	7	3	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:32850630C>T	ENST00000380250.3	+	57	8812	c.8316C>T	c.(8314-8316)ctC>ctT	p.L2772L	FRY_ENST00000542859.1_Silent_p.L142L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2772					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGGACAAGCTCAAGTTCAGTG	0.393													False	0	False	13:32850630	0	T	32850630	C	T	32850630	2	4	114	1	0	0	0	0	0	0	0	1	6105	813	29	2		2	FRY	13	32850630	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	13099369	32850630	82319248	64	31289											
VPS36	51028	broad.mit.edu	37	chr13	53013235	53013235	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgctatacacagacttacctCttcccaattccagccgcctg	5	16	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:53013235C>G	ENST00000378060.4	-	3	261	c.234G>C	c.(232-234)aaG>aaC	p.K78N	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	78	GLUE N-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AGACTTACCTCTTCCCAATTC	0.408													False	0	False	13:53013235	0	G	53013235	C	G	53013235	3	3	114	1	0	0	0	0	1	0	0	0	17288	912	32	5	974	5	VPS36	13	53013235	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	20162605	53013235	62156643	65	31290											
C13orf35	400165	broad.mit.edu	37	chr13	113333852	113333852	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatcccgtgatgagccgccGatccgagctcaggctgcgtc	13	14	1	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:113333852G>A	ENST00000356049.1	+	2	917	c.159G>A	c.(157-159)ccG>ccA	p.P53P		NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN	chromosome 13 open reading frame 35	53										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			ATGAGCCGCCGATCCGAGCTC	0.607													False	0	False	13:113333852	0	A	113333852	G	A	113333852	2	1	114	1	0	0	0	0	0	0	0	1	1738	1045	37	1		1	C13orf35	13	113333852	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	60320617	113333852	1836026	66	31291											
DLGAP5	9787	broad.mit.edu	37	chr14	55618581	55618581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttagtattaatatcatctgCtactccaccagcaagaagag	7	9	2	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:55618581C>T	ENST00000247191.2	-	17	2416	c.2200G>A	c.(2200-2202)Gca>Aca	p.A734T	DLGAP5_ENST00000395425.2_Missense_Mutation_p.A734T	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	734					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						ATATCATCTGCTACTCCACCA	0.358													False	0	False	14:55618581	0	T	55618581	C	T	55618581	3	4	114	1	0	0	0	0	1	0	0	0	4593	797	28	2	447	2	DLGAP5	14	55618581	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		55618581	51730959	67	31292											
PCNX	22990	broad.mit.edu	37	chr14	71455320	71455320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcagtgtcatttcgccGtgaacgcagcacatttaggc	13	10	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:71455320G>A	ENST00000304743.2	+	7	2794	c.2348G>A	c.(2347-2349)cGt>cAt	p.R783H	PCNX_ENST00000238570.5_Missense_Mutation_p.R783H|PCNX_ENST00000439984.3_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	783						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCATTTCGCCGTGAACGCAGC	0.547													False	0	False	14:71455320	0	A	71455320	G	A	71455320	3	1	114	1	0	0	0	0	1	0	0	0	11659	1145	40	1	2374	1	PCNX	14	71455320	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	15836739	71455320	35894220	68	31293											
AHNAK2	113146	broad.mit.edu	37	chr14	105410162	105410162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccggcttcctcgggcaCgtggccctccaggagtttca	14	14	1	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:105410162C>T	ENST00000333244.5	-	7	11745	c.11626G>A	c.(11626-11628)Gtg>Atg	p.V3876M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3876						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCTCGGGCACGTGGCCCTCC	0.592													False	0	False	14:105410162	0	T	105410162	C	T	105410162	3	4	114	1	0	0	0	0	1	0	0	0	415	536	19	1	5765	1	AHNAK2	14	105410162	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	33954842	105410162	1939378	69	31294											
SPG11	80208	broad.mit.edu	37	chr15	44888457	44888457	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttattgcagacttgatcgcTgtccattttggaggtgggca	12	8	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:44888457T>A	ENST00000261866.7	-	25	4274	c.4258A>T	c.(4258-4260)Agc>Tgc	p.S1420C	SPG11_ENST00000558319.1_Missense_Mutation_p.S1420C|SPG11_ENST00000427534.2_Missense_Mutation_p.S1420C|SPG11_ENST00000535302.2_Missense_Mutation_p.S1420C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1420					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACTTGATCGCTGTCCATTTTG	0.473													False	0	False	15:44888457	0	A	44888457	T	A	44888457	3	1	114	1	0	0	0	0	1	0	0	0	15123	1580	55	5	3137	5	SPG11	15	44888457	Missense_Mutation	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08		44888457	57642935	70	31295											
MYO5A	4644	broad.mit.edu	37	chr15	52675386	52675387	+	Splice_Site	INS	-	-	CACCCAGTGAGAAAGTACATATCT													ggtgcagggagtttctgaacINStgcatgaaaaagggcagaag							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:52675386_52675387insCACCCAGTGAGAAAGTACATATCT	ENST00000399231.3	-	16	2158		c.e16-1		MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)						actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AGTTTCTGAACTGCATGAAAAA	0.45													False	0	False	15:52675386	0	CACCCAGTGAGAAAGTACATATCT	52675387	-	CACCCAGTGAGAAAGTACATATCT	52675386	8	5	114	1	0	1	1	0	0	0	1	0	10145	579	20	0	3757	0	MYO5A	15	52675386	Splice_Site	INS	-	TCGA-IB-AAUQ-01A-22D-A40W-08	7786929	52675386	49856006	71	31296											
CYP1A2	1544	broad.mit.edu	37	chr15	75042757	75042757	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaagaacactcatgagttCgtggagactgcctcctccgg	12	11	1	4			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:75042757C>T	ENST00000343932.4	+	2	741	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	226					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	p.F226F(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CTCATGAGTTCGTGGAGACTG	0.572													False	0	False	15:75042757	0	T	75042757	C	T	75042757	2	4	114	1	0	0	0	0	0	0	0	1	4175	883	31	1		1	CYP1A2	15	75042757	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	22367371	75042757	27488635	72	31297											
TMC5	79838	broad.mit.edu	37	chr16	19498557	19498557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctccgagcaaagcctggCgggcctcacagatgatgact	12	13	1	3			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:19498557C>T	ENST00000396229.2	+	17	3231	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	TMC5_ENST00000564959.1_Missense_Mutation_p.R511W|TMC5_ENST00000561503.1_Missense_Mutation_p.R469W|TMC5_ENST00000219821.5_Missense_Mutation_p.R582W|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Missense_Mutation_p.R828W|TMC5_ENST00000541464.1_Missense_Mutation_p.R776W|TMC5_ENST00000542583.2_Missense_Mutation_p.R828W	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	828						integral to membrane		p.R828W(1)|p.R582W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAAAGCCTGGCGGGCCTCACA	0.567													False	0	True	16:19498557	0	T	19498557	C	T	19498557	3	4	114	1	0	0	0	0	1	0	0	0	16070	759	27	1	2854	1	TMC5	16	19498557	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		19498557	70856196	73	31298											
CACNG3	10368	broad.mit.edu	37	chr16	24366270	24366270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacaacgtcattctcagcGcgggcatcttttttgtctct	8	12	4	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:24366270G>A	ENST00000005284.3	+	3	1614	c.412G>A	c.(412-414)Gcg>Acg	p.A138T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	138					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A138T(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CATTCTCAGCGCGGGCATCTT	0.572													False	0	False	16:24366270	0	A	24366270	G	A	24366270	3	1	114	1	0	0	0	0	1	0	0	0	2578	1087	38	1	422	1	CACNG3	16	24366270	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	4867713	24366270	65988483	74	31299											
HYDIN	54768	broad.mit.edu	37	chr16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgttgatcttcttgggccGcacagactctccagcgcgaa	11	12	3	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:70841641G>A	ENST00000393567.2	-	86	15358	c.15208C>T	c.(15208-15210)Cgg>Tgg	p.R5070W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517													False	0	False	16:70841641	0	A	70841641	G	A	70841641	3	1	114	1	0	0	0	0	1	0	0	0	7517	1086	38	1	161	1	HYDIN	16	70841641	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	46475371	70841641	19513112	75	31300											
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	14	12	3	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:7578395G>A	ENST00000420246.2	-	5	667	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCTCATGGTGGGGGCAG	0.642		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)			False	0	False	17:7578395	0	A	7578395	G	A	7578395	3	1	114	1	0	0	0	0	1	0	0	0	16464	1348	47	2	763	2	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08		7578395	73616815	76	31301											
DUS3L	56931	broad.mit.edu	37	chr19	5789413	5789413	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcgggtgtggggccctggctGaaccggcgcagggcctgctc	19	13	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:5789413G>C	ENST00000309061.7	-	3	801	c.705C>G	c.(703-705)ttC>ttG	p.F235L	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	235					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	p.F235F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GGCCCTGGCTGAACCGGCGCA	0.726													False	0	False	19:5789413	0	C	5789413	G	C	5789413	3	2	114	1	0	0	0	0	1	0	0	0	4837	1281	45	5	1291	5	DUS3L	19	5789413	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08		5789413	53339570	77	31302											
CCDC105	126402	broad.mit.edu	37	chr19	15121740	15121740	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcgaggaccgcgcacattCtgaccgatcgctgcgggcag	15	13	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:15121740C>T	ENST00000292574.3	+	1	185	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	35					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGCGCACATTCTGACCGATCG	0.706													False	0	False	19:15121740	0	T	15121740	C	T	15121740	2	4	114	1	0	0	0	0	0	0	0	1	2760	912	32	2		2	CCDC105	19	15121740	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	9332327	15121740	44007243	78	31303											
UBA2	10054	broad.mit.edu	37	chr19	34922781	34922781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggttgccaaggaaagtGtactgcagttttacccgaaa	10	9	0	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:34922781G>A	ENST00000246548.4	+	3	308	c.238G>A	c.(238-240)Gta>Ata	p.V80I	UBA2_ENST00000439527.2_5'UTR	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	80					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAAGGAAAGTGTACTGCAGTT	0.368													False	0	False	19:34922781	0	A	34922781	G	A	34922781	3	1	114	1	0	0	0	0	1	0	0	0	16912	1377	48	2	248	2	UBA2	19	34922781	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	19801041	34922781	24206202	79	31304											
EID2B	126272	broad.mit.edu	37	chr19	40023035	40023035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgaagtccatctgcggGggatccgcgtcaaaggctgc	15	12	2	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40023035G>A	ENST00000326282.4	-	1	459	c.408C>T	c.(406-408)ccC>ccT	p.P136P	EID2B_ENST00000601837.1_Intron	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	136					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCATCTGCGGGGGATCCGCGT	0.597													False	0	True	19:40023035	0	A	40023035	G	A	40023035	2	1	114	1	0	0	0	0	0	0	0	1	5018	1219	43	2		2	EID2B	19	40023035	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	5100254	40023035	19105948	80	31305											
FCGBP	8857	broad.mit.edu	37	chr19	40411753	40411753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgcaggccaggc	12	15	1	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40411753G>A	ENST00000221347.6	-	7	3882	c.3875C>T	c.(3874-3876)gCc>gTc	p.A1292V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1292	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.632													False	0	False	19:40411753	0	A	40411753	G	A	40411753	3	1	114	1	0	0	0	0	1	0	0	0	5818	1203	42	2	12462	2	FCGBP	19	40411753	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	388718	40411753	18717230	81	31306											
CYP2A6	1548	broad.mit.edu	37	chr19	41351999	41351999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctccgtgttggggttcttctCctcctgcagggagagggggc	16	11	2	1	rs58261757		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:41351999C>G	ENST00000301141.5	-	6	855	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	279					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GGGTTCTTCTCCTCCTGCAGG	0.557													False	0	False	19:41351999	0	G	41351999	C	G	41351999	3	3	114	1	0	0	0	0	1	0	0	0	4187	864	30	5	665	5	CYP2A6	19	41351999	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	940246	41351999	17776984	82	31307											
TEX101	83639	broad.mit.edu	37	chr19	43922079	43922079	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccaacctgtgtggctttgggGacctgtttcagtgctccttc	11	12	1	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:43922079G>T	ENST00000602198.1	+	7	937	c.495G>T	c.(493-495)ggG>ggT	p.G165G	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Silent_p.G165G|TEX101_ENST00000598265.1_Silent_p.G147G	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	147						anchored to membrane|plasma membrane		p.G165G(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGGCTTTGGGGACCTGTTTCA	0.493													False	0	True	19:43922079	0	T	43922079	G	T	43922079	2	4	114	1	0	0	0	0	0	0	0	1	15855	1161	41	3		3	TEX101	19	43922079	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	2570080	43922079	15206904	83	31308											
ZNF606	80095	broad.mit.edu	37	chr19	58491598	58491598	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggattgttcttcctcaaaAatgctctgtgctgggatcaa	10	8	4	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:58491598A>C	ENST00000341164.4	-	7	1070	c.450T>G	c.(448-450)atT>atG	p.I150M	ZNF606_ENST00000536132.1_Missense_Mutation_p.I60M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTTCCTCAAAAATGCTCTGTG	0.383													False	0	True	19:58491598	0	C	58491598	A	C	58491598	3	2	114	1	0	0	0	0	1	0	0	0	18115	10	1	4	1932	4	ZNF606	19	58491598	Missense_Mutation	SNP	A	TCGA-IB-AAUQ-01A-22D-A40W-08	14569519	58491598	637385	84	31309											
CDH22	64405	broad.mit.edu	37	chr20	44839199	44839199	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggattcgaagtccaggcGctgcgggagggagcagaggg	20	8	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr20:44839199G>A	ENST00000372262.3	-	6	1433	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Splice_Site_p.R345C	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	345	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AAGTCCAGGCGCTGCGGGAGG	0.672													False	0	False	20:44839199	0	A	44839199	G	A	44839199	5	1	114	1	0	0	0	0	0	0	1	0	3130	1101	38	1	1477	1	CDH22	20	44839199	Splice_Site	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08		44839199	18186321	85	31310											
KRTAP12-3	386683	broad.mit.edu	37	chr21	46078062	46078062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccagccctccgtgtgcGtgcccgtgagctgcaggccc	13	18	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr21:46078062G>A	ENST00000397907.1	+	1	214	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	56	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTCCGTGTGCGTGCCCGTGAG	0.642													False	0	True	21:46078062	0	A	46078062	G	A	46078062	3	1	114	1	0	0	0	0	1	0	0	0	8570	1145	40	1	168	1	KRTAP12-3	21	46078062	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08		46078062	2051833	86	31311											
TOMM22	56993	broad.mit.edu	37	chr22	39079827	39079827	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgccaggggctctaccctCacttcctggaaagatctaga	9	12	3	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr22:39079827C>T	ENST00000216034.4	+	4	441	c.410C>T	c.(409-411)tCa>tTa	p.S137L		NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	137	C-tail signal; necessary for mitochondrion outer membrane localization and integration in the TOM complex (By similarity).				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					GCTCTACCCTCACTTCCTGGA	0.433													False	0	False	22:39079827	0	T	39079827	C	T	39079827	3	4	114	1	0	0	0	0	1	0	0	0	16438	838	29	2	424	2	TOMM22	22	39079827	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		39079827	12224739	87	31312											
FGF13	2258	broad.mit.edu	37	chrX	137715118	137715118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgggagaactccgtgagatCgtgcagtgatggctccttgt	14	9	0	3			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chrX:137715118C>T	ENST00000315930.6	-	5	1292	c.631G>A	c.(631-633)Gat>Aat	p.D211N	FGF13_ENST00000541469.1_Missense_Mutation_p.D165N|FGF13_ENST00000305414.4_Missense_Mutation_p.D158N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N|FGF13_ENST00000441825.2_Missense_Mutation_p.D192N	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	211					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCGTGAGATCGTGCAGTGAT	0.483													False	0	False	X:137715118	0	T	137715118	C	T	137715118	3	4	114	1	0	0	0	0	1	0	0	0	5882	884	31	1	110	1	FGF13	23	137715118	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		137715118	17555442	88	31313											
ESPN	83715	broad.mit.edu	37	chr1	6505817	6505879	+	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-													gggcacgattgggaagcccaCacccccaccacccccaccca					rs139266211	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	-	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENST00000377828.1	+	7	1454_1516	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca	p.PPPPPPSFPPPPPPPGTQLPP430del	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	430	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGGAAGcccacacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgcccccacccccacc	0.65													False	1	True	1:6505817	0	-	6505879	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	6505817	7	5	115	1	0	1	0	1	0	0	0	0	5286	478	17	0	1312	0	ESPN	1	6505817	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	TCGA-IB-AAUR-01A-21D-A38G-08		6505817	242744804	1	31314											
ARID1A	8289	broad.mit.edu	37	chr1	27105586	27105586	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agatctttggcattttaaagGagtatgaggtgggtgaccca	13	5	1	3			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:27105586G>T	ENST00000324856.7	+	20	5568	c.5197G>T	c.(5197-5199)Gag>Tag	p.E1733*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1516*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1350*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E61*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1733					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E1733*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATTTTAAAGGAGTATGAGGT	0.478			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								False	0	False	1:27105586	0	T	27105586	G	T	27105586	4	4	115	1	0	0	0	0	0	1	0	0	915	1175	41	3	5275	3	ARID1A	1	27105586	Nonsense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	20599769	27105586	222145035	2	31315											
FAM63A	55793	broad.mit.edu	37	chr1	150971955	150971955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtaggtcagctgggccgCggtggtctccaggaactgct	17	10	2	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:150971955C>T	ENST00000361936.5	-	8	1825	c.871G>A	c.(871-873)Gcg>Acg	p.A291T	FAM63A_ENST00000493834.2_Missense_Mutation_p.A196T|FAM63A_ENST00000361738.6_Missense_Mutation_p.A339T|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000312210.5_Missense_Mutation_p.A149T	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	291							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCTGGGCCGCGGTGGTCTCC	0.547													False	0	False	1:150971955	0	T	150971955	C	T	150971955	3	4	115	1	0	0	0	0	1	0	0	0	5636	768	27	1	554	1	FAM63A	1	150971955	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	123866369	150971955	98278666	3	31316											
PSMD4	5710	broad.mit.edu	37	chr1	151238835	151238835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagcaagagtttggccGcactgggcttcctgacctaa	11	13	0	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:151238835G>A	ENST00000368884.3	+	8	895	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	272					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTTGGCCGCACTGGGCTT	0.547													False	0	False	1:151238835	0	A	151238835	G	A	151238835	3	1	115	1	0	0	0	0	1	0	0	0	12776	1087	38	1	845	1	PSMD4	1	151238835	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	266880	151238835	98011786	4	31317											
GATAD2B	57459	broad.mit.edu	37	chr1	153800794	153800794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcttcaacagattcaaGcgaagagcatcttctgtcat	7	12	5	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:153800794G>A	ENST00000368655.4	-	2	273	c.30C>T	c.(28-30)cgC>cgT	p.R10R		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	10						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACAGATTCAAGCGAAGAGCAT	0.433													False	0	False	1:153800794	0	A	153800794	G	A	153800794	2	1	115	1	0	0	0	0	0	0	0	1	6304	958	34	2		2	GATAD2B	1	153800794	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	2561959	153800794	95449827	5	31318											
TTC13	79573	broad.mit.edu	37	chr1	231090100	231090100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcattgttgaaaaatgCcgtattgcttcatcatacag	8	7	2	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:231090100C>T	ENST00000366661.4	-	4	499	c.492G>A	c.(490-492)cgG>cgA	p.R164R	TTC13_ENST00000414259.1_Silent_p.R164R|TTC13_ENST00000366662.4_Silent_p.R164R	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	164							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTGAAAAATGCCGTATTGCTT	0.308													False	0	False	1:231090100	0	T	231090100	C	T	231090100	2	4	115	1	0	0	0	0	0	0	0	1	16764	726	26	2		2	TTC13	1	231090100	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	77289306	231090100	18160521	6	31319											
PCNXL2	80003	broad.mit.edu	37	chr1	233152748	233152748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtgatcccctggagacaCgggacgtagtcatcatcaat	11	11	3	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:233152748C>T	ENST00000258229.8	-	27	4992	c.4758G>A	c.(4756-4758)ccG>ccA	p.P1586P	PCNXL2_ENST00000344698.2_Silent_p.P238P	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1586						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCTGGAGACACGGGACGTAGT	0.478													False	0	True	1:233152748	0	T	233152748	C	T	233152748	2	4	115	1	0	0	0	0	0	0	0	1	11660	523	19	1		1	PCNXL2	1	233152748	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	2062648	233152748	16097873	7	31320											
PLB1	151056	broad.mit.edu	37	chr2	28826861	28826861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaactgcgttctgaccctgCgggagaactcccaagagcta	11	12	1	3			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:28826861C>T	ENST00000422425.2	+	39	2814	c.2770C>T	c.(2770-2772)Cgg>Tgg	p.R924W	PLB1_ENST00000327757.5_Missense_Mutation_p.R935W|PLB1_ENST00000541605.1_Intron	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	935	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTGACCCTGCGGGAGAACTC	0.607													False	0	True	2:28826861	0	T	28826861	C	T	28826861	3	4	115	1	0	0	0	0	1	0	0	0	12093	759	27	1	2994	1	PLB1	2	28826861	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08		28826861	214372512	8	31321											
PSME4	23198	broad.mit.edu	37	chr2	54176304	54176304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagttgatcaaaaggcggGcaaatccctgcatcatgctg	10	10	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:54176304G>A	ENST00000404125.1	-	2	414	c.359C>T	c.(358-360)gCc>gTc	p.A120V	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAAAAGGCGGGCAAATCCCTG	0.358													False	0	True	2:54176304	0	A	54176304	G	A	54176304	3	1	115	1	0	0	0	0	1	0	0	0	12785	1203	42	2	5352	2	PSME4	2	54176304	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	25349443	54176304	189023069	9	31322											
PSD4	23550	broad.mit.edu	37	chr2	113940171	113940171	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggatccaccggagcctttCgaggagcaaacctgggccac	13	13	0	0	rs139939908		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:113940171C>T	ENST00000245796.6	+	2	333	c.138C>T	c.(136-138)ttC>ttT	p.F46F	PSD4_ENST00000441564.2_Silent_p.F46F|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	46					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGAGCCTTTCGAGGAGCAAA	0.602													False	0	True	2:113940171	0	T	113940171	C	T	113940171	2	4	115	1	0	0	0	0	0	0	0	1	12725	883	31	1		1	PSD4	2	113940171	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	59763867	113940171	129259202	10	31323											
CCDC93	54520	broad.mit.edu	37	chr2	118677965	118677965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcagcatctcgttcttgCggccctcctggagggaaagc	12	13	2	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:118677965C>T	ENST00000376300.2	-	24	1987	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	HTR5BP_ENST00000434708.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.R616H	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	617										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTCGTTCTTGCGGCCCTCCTG	0.502													False	0	False	2:118677965	0	T	118677965	C	T	118677965	3	4	115	1	0	0	0	0	1	0	0	0	2893	768	27	1	49	1	CCDC93	2	118677965	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	4737794	118677965	124521408	11	31324											
GRB14	2888	broad.mit.edu	37	chr2	165353909	165353909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgagtccttcttcaaccGcaactgaaagggcttcagtg	10	11	3	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:165353909G>A	ENST00000263915.3	-	10	1734	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	GRB14_ENST00000543549.1_Missense_Mutation_p.A312V	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	399					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTTCAACCGCAACTGAAAG	0.393													False	0	False	2:165353909	0	A	165353909	G	A	165353909	3	1	115	1	0	0	0	0	1	0	0	0	6804	1087	38	1	446	1	GRB14	2	165353909	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	46675944	165353909	77845464	12	31325											
CHDH	55349	broad.mit.edu	37	chr3	53852140	53852140	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttcctggctggagctctttCcctcggaacggagccagggc	13	14	1	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:53852140C>A	ENST00000315251.5	-	9	1886	c.1449G>T	c.(1447-1449)ggG>ggT	p.G483G		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	483					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GGAGCTCTTTCCCTCGGAACG	0.517													False	0	True	3:53852140	0	A	53852140	C	A	53852140	2	1	115	1	0	0	0	0	0	0	0	1	3356	842	30	3		3	CHDH	3	53852140	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08		53852140	144170290	13	31326											
FAM107A	11170	broad.mit.edu	37	chr3	58555477	58555477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactccgagaggccttcacGgggttcagcagcttcttggg	14	11	3	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:58555477G>A	ENST00000394481.1	-	3	669	c.111C>T	c.(109-111)ccC>ccT	p.P37P	FAM107A_ENST00000360997.2_Silent_p.P37P|FAM107A_ENST00000474531.1_Silent_p.P68P|FAM107A_ENST00000447756.2_Silent_p.P65P|FAM107A_ENST00000464064.1_Silent_p.P37P	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	37					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		AGGCCTTCACGGGGTTCAGCA	0.622													False	0	True	3:58555477	0	A	58555477	G	A	58555477	2	1	115	1	0	0	0	0	0	0	0	1	5425	1103	39	1		1	FAM107A	3	58555477	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	4703337	58555477	139466953	14	31327											
ZBTB20	26137	broad.mit.edu	37	chr3	114070605	114070605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcccgtggatgcgcaccGttacgtcacagaagtggcca	12	13	1	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:114070605G>A	ENST00000462705.1	-	11	922	c.101C>T	c.(100-102)aCg>aTg	p.T34M	ZBTB20_ENST00000393785.2_Missense_Mutation_p.T34M|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T34M|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000474710.1_Missense_Mutation_p.T107M	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T34M(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GATGCGCACCGTTACGTCACA	0.602													False	0	False	3:114070605	0	A	114070605	G	A	114070605	3	1	115	1	0	0	0	0	1	0	0	0	17612	1145	40	1	1913	1	ZBTB20	3	114070605	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	55515128	114070605	83951825	15	31328											
MGLL	11343	broad.mit.edu	37	chr3	127413957	127413957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgctccacccgtgagacgGcattcagcagttggatgccg	13	14	1	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:127413957G>A	ENST00000434178.2	-	7	1543	c.647C>T	c.(646-648)gCc>gTc	p.A216V	MGLL_ENST00000453507.2_Missense_Mutation_p.A196V|MGLL_ENST00000398104.1_Missense_Mutation_p.A216V|MGLL_ENST00000398101.3_Missense_Mutation_p.A190V|MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000265052.5_Missense_Mutation_p.A226V			Q99685	MGLL_HUMAN	monoglyceride lipase	216					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CCGTGAGACGGCATTCAGCAG	0.612													False	0	False	3:127413957	0	A	127413957	G	A	127413957	3	1	115	1	0	0	0	0	1	0	0	0	9623	1203	42	2	272	2	MGLL	3	127413957	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	13343352	127413957	70608473	16	31329											
MECOM	2122	broad.mit.edu	37	chr3	168818719	168818719	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaagtgccgtgttaggtTtgcagaccttggaaaaatct	10	8	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:168818719T>C	ENST00000464456.1	-	10	3412	c.2212A>G	c.(2212-2214)Aac>Gac	p.N738D	MECOM_ENST00000468789.1_Missense_Mutation_p.N747D|MECOM_ENST00000264674.3_Missense_Mutation_p.N812D|MECOM_ENST00000494292.1_Missense_Mutation_p.N926D|MECOM_ENST00000472280.1_Missense_Mutation_p.N748D|MECOM_ENST00000392736.3_Missense_Mutation_p.N747D|MECOM_ENST00000433243.2_Missense_Mutation_p.N748D|MECOM_ENST00000460814.1_Missense_Mutation_p.N738D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CGTGTTAGGTTTGCAGACCTT	0.368													False	0	True	3:168818719	0	C	168818719	T	C	168818719	3	2	115	1	0	0	0	0	1	0	0	0	9489	1841	64	4	940	4	MECOM	3	168818719	Missense_Mutation	SNP	T	TCGA-IB-AAUR-01A-21D-A38G-08	41404762	168818719	29203711	17	31330											
PCYT1A	5130	broad.mit.edu	37	chr3	195966549	195966549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttgacttttcctccaCatctttcactttcttcttta	1	12	5	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:195966549C>T	ENST00000292823.2	-	9	938	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	PCYT1A_ENST00000431016.1_Missense_Mutation_p.V256M|PCYT1A_ENST00000419333.1_Missense_Mutation_p.V256M	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	256	3 X 11 AA approximate tandem repeats.|Amphipathic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	TTTTCCTCCACATCTTTCACT	0.383													False	0	False	3:195966549	0	T	195966549	C	T	195966549	3	4	115	1	0	0	0	0	1	0	0	0	11678	478	17	2	345	2	PCYT1A	3	195966549	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	27147830	195966549	2055881	18	31331											
PPP2R2C	5522	broad.mit.edu	37	chr4	6383543	6383543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctggccttcctggatggGcaagtgtttggagaaaaaag	16	6	0	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:6383543G>A	ENST00000335585.5	-	1	54	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000382599.4_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000515571.1_Intron	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	0					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCCTGGATGGGCAAGTGTTTG	0.527													False	0	True	4:6383543	0	A	6383543	G	A	6383543	3	1	115	1	0	0	0	0	1	0	0	0	12460	1203	42	2	1348	2	PPP2R2C	4	6383543	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		6383543	184770733	19	31332											
NCAPG	64151	broad.mit.edu	37	chr4	17844989	17844989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccaagacgagccaaaaccGcagcactagaaaaaagtaaa	7	10	0	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:17844989G>A	ENST00000251496.2	+	21	3165	c.2989G>A	c.(2989-2991)Gca>Aca	p.A997T	LCORL_ENST00000326877.3_3'UTR	NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	997					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AGCCAAAACCGCAGCACTAGA	0.368													False	0	False	4:17844989	0	A	17844989	G	A	17844989	3	1	115	1	0	0	0	0	1	0	0	0	10275	1087	38	1	3071	1	NCAPG	4	17844989	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	11461446	17844989	173309287	20	31333											
DCK	1633	broad.mit.edu	37	chr4	71888175	71888175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaccttccaaacatatgCctgtctcagtcgaataagag	6	10	1	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:71888175C>T	ENST00000286648.5	+	3	696	c.299C>T	c.(298-300)gCc>gTc	p.A100V	DCK_ENST00000504730.1_Missense_Mutation_p.A100V|DCK_ENST00000504952.1_Missense_Mutation_p.A100V	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	100					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	CAAACATATGCCTGTCTCAGT	0.393													False	0	False	4:71888175	0	T	71888175	C	T	71888175	3	4	115	1	0	0	0	0	1	0	0	0	4315	739	26	2	309	2	DCK	4	71888175	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	54043186	71888175	119266101	21	31334											
SMARCA5	8467	broad.mit.edu	37	chr4	144465945	144465945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagaaaagccaactatgCcgttgatgcatatttcaggg	10	7	1	3			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:144465945C>T	ENST00000283131.3	+	17	2690	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	743					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GCCAACTATGCCGTTGATGCA	0.378													False	0	False	4:144465945	0	T	144465945	C	T	144465945	3	4	115	1	0	0	0	0	1	0	0	0	14851	739	26	2	2294	2	SMARCA5	4	144465945	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	72577770	144465945	46688331	22	31335											
BRD9	65980	broad.mit.edu	37	chr5	889786	889786	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acaatttaaggaaaaaaaaaTtgaatacaagactttggtat	6	3	0	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:889786T>A	ENST00000323510.4	-	1	28	c.29A>T	c.(28-30)aAt>aTt	p.N10I	BRD9_ENST00000483173.1_Intron|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000435709.2_Missense_Mutation_p.N10I|BRD9_ENST00000388890.4_Missense_Mutation_p.N10I			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	0							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GAAAAAAAAATTGAATACAAG	0.448													False	0	True	5:889786	0	A	889786	T	A	889786	3	1	115	1	0	0	0	0	1	0	0	0	1514	1508	52	5		5	BRD9	5	889786	Missense_Mutation	SNP	T	TCGA-IB-AAUR-01A-21D-A38G-08		889786	180025474	23	31336											
ZNF366	0	broad.mit.edu	37	chr5	71756620	71756620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcatcgatctgcacgTtcacgtccaccctctccacc	6	18	4	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:71756620T>C	ENST00000318442.5	-	2	1194	c.704A>G	c.(703-705)aAc>aGc	p.N235S		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GATCTGCACGTTCACGTCCAC	0.632													False	0	False	5:71756620	0	C	71756620	T	C	71756620	3	2	115	1	0	0	0	0	1	0	0	0	17953	1725	60	4	1546	4	ZNF366	5	71756620	Missense_Mutation	SNP	T	TCGA-IB-AAUR-01A-21D-A38G-08	70866834	71756620	109158640	24	31337											
ARAP3	64411	broad.mit.edu	37	chr5	141053229	141053229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcgtgaggcggtctgccGtgaaggagaagctggcatag	20	7	1	3	rs149350776		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:141053229G>A	ENST00000239440.4	-	5	910	c.845C>T	c.(844-846)aCg>aTg	p.T282M	ARAP3_ENST00000508305.1_Missense_Mutation_p.T204M	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	282					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCGGTCTGCCGTGAAGGAGAA	0.607													False	0	False	5:141053229	0	A	141053229	G	A	141053229	3	1	115	1	0	0	0	0	1	0	0	0	842	1145	40	1	3905	1	ARAP3	5	141053229	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	69296609	141053229	39862031	25	31338											
NSD1	64324	broad.mit.edu	37	chr5	176687011	176687011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggttgatgcgctgtgtccGctgtcctgtggcataccacg	13	12	0	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:176687011G>A	ENST00000439151.2	+	14	5033	c.4988G>A	c.(4987-4989)cGc>cAc	p.R1663H	NSD1_ENST00000361032.4_Missense_Mutation_p.R1560H|NSD1_ENST00000354179.4_Missense_Mutation_p.R1394H|NSD1_ENST00000347982.4_Missense_Mutation_p.R1394H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1663					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CGCTGTGTCCGCTGTCCTGTG	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			False	0	False	5:176687011	0	A	176687011	G	A	176687011	3	1	115	1	0	0	0	0	1	0	0	0	10737	1087	38	1	5038	1	NSD1	5	176687011	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	35633782	176687011	4228249	26	31339											
PRSS16	10279	broad.mit.edu	37	chr6	27220639	27220639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcttttcccgagcagagaCagtggcacagctgaggagca	13	10	0	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:27220639C>A	ENST00000230582.3	+	9	1076	c.1061C>A	c.(1060-1062)aCa>aAa	p.T354K	PRSS16_ENST00000421826.2_Missense_Mutation_p.T97K|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	354					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGAGCAGAGACAGTGGCACAG	0.498													False	0	False	6:27220639	0	A	27220639	C	A	27220639	3	1	115	1	0	0	0	0	1	0	0	0	12692	478	17	3	1095	3	PRSS16	6	27220639	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08		27220639	143894428	27	31340											
ZNF391	346157	broad.mit.edu	37	chr6	27369145	27369145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcataccggggagaagccGtacaaatgtaatgactgtgg	12	8	1	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:27369145G>A	ENST00000244576.4	+	3	1541	c.996G>A	c.(994-996)ccG>ccA	p.P332P		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGGAGAAGCCGTACAAATGTA	0.423													False	0	False	6:27369145	0	A	27369145	G	A	27369145	2	1	115	1	0	0	0	0	0	0	0	1	17962	1132	40	1		1	ZNF391	6	27369145	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	148506	27369145	143745922	28	31341											
TMEM30A	55754	broad.mit.edu	37	chr6	75974982	75974982	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atctccatttagttgactatCatctcgagatttcacgtaac	5	10	4	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:75974982C>G	ENST00000230461.6	-	3	747	c.418G>C	c.(418-420)Gat>Cat	p.D140H	TMEM30A_ENST00000370050.5_Missense_Mutation_p.D21H|TMEM30A_ENST00000475111.2_Missense_Mutation_p.D104H	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	140						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTTGACTATCATCTCGAGAT	0.313													False	0	False	6:75974982	0	G	75974982	C	G	75974982	3	3	115	1	0	0	0	0	1	0	0	0	16235	826	29	5	687	5	TMEM30A	6	75974982	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	48605837	75974982	95140085	29	31342											
ZDHHC14	79683	broad.mit.edu	37	chr6	158049518	158049518	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttatcacccacgtcattcttCgtaagtatgctggcgaaatc	7	11	3	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:158049518C>T	ENST00000359775.5	+	4	1592	c.703_splice	c.e4+1	p.R235_splice	ZDHHC14_ENST00000414563.2_Splice_Site_p.R235_splice|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	235						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGTCATTCTTCGTAAGTATGC	0.328													False	0	False	6:158049518	0	T	158049518	C	T	158049518	5	4	115	1	0	0	0	0	0	0	1	0	17687	898	31	1	717	1	ZDHHC14	6	158049518	Splice_Site	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	82074536	158049518	13065549	30	31343											
INMT	11185	broad.mit.edu	37	chr7	30795239	30795239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccttgcctcactgctcaaGccgggtggccacctggtgac	11	15	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:30795239G>A	ENST00000013222.5	+	3	580	c.564G>A	c.(562-564)aaG>aaA	p.K188K	INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Silent_p.K187K|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	188						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CACTGCTCAAGCCGGGTGGCC	0.627													False	0	False	7:30795239	0	A	30795239	G	A	30795239	2	1	115	1	0	0	0	0	0	0	0	1	7795	962	34	2		2	INMT	7	30795239	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		30795239	128343424	31	31344											
TFPI2	7980	broad.mit.edu	37	chr7	93518519	93518519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacactcacttgcagccgGcaaactttgggaacttctag	8	13	2	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:93518519G>A	ENST00000222543.5	-	3	600	c.288C>T	c.(286-288)tgC>tgT	p.C96C	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Intron	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	96	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTTGCAGCCGGCAAACTTTGG	0.398													False	0	False	7:93518519	0	A	93518519	G	A	93518519	2	1	115	1	0	0	0	0	0	0	0	1	15891	1195	42	2		2	TFPI2	7	93518519	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	62723280	93518519	65620144	32	31345											
UBN2	254048	broad.mit.edu	37	chr7	138969039	138969039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaccttgaatttattgCcctctagtcgcacttcaggc	6	15	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:138969039C>T	ENST00000288561.8	+	15	3388	c.3139C>T	c.(3139-3141)Ccc>Tcc	p.P1047S	UBN2_ENST00000473989.2_Missense_Mutation_p.P1130S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1130	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GAATTTATTGCCCTCTAGTCG	0.493													False	0	True	7:138969039	0	T	138969039	C	T	138969039	3	4	115	1	0	0	0	0	1	0	0	0	16977	739	26	2	3446	2	UBN2	7	138969039	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	45450520	138969039	20169624	33	31346											
LPL	4023	broad.mit.edu	37	chr8	19811679	19811679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgcagaagccccgagtcGtctttctcctgatgatgcag	11	11	2	3			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr8:19811679G>A	ENST00000311322.8	+	5	1060	c.590G>A	c.(589-591)cGt>cAt	p.R197H		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	197					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GCCCCGAGTCGTCTTTCTCCT	0.458													False	0	False	8:19811679	0	A	19811679	G	A	19811679	3	1	115	1	0	0	0	0	1	0	0	0	8983	1145	40	1	608	1	LPL	8	19811679	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		19811679	126552343	34	31347											
WRN	7486	broad.mit.edu	37	chr8	31004955	31004955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttcccccagctattctgGcaacaaacaagatactggtg	8	11	1	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr8:31004955G>A	ENST00000298139.5	+	30	3784	c.3535G>A	c.(3535-3537)Gca>Aca	p.A1179T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1179	HRDC.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGCTATTCTGGCAACAAACAA	0.338			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				False	0	False	8:31004955	0	A	31004955	G	A	31004955	3	1	115	1	0	0	0	0	1	0	0	0	17486	1203	42	2	3649	2	WRN	8	31004955	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	11193276	31004955	115359067	35	31348											
ADCY8	114	broad.mit.edu	37	chr8	132052268	132052268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggaagactttggtgccGcaggtgctgtgcgctcgctc	15	12	0	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr8:132052268G>A	ENST00000286355.5	-	1	2404	c.312C>T	c.(310-312)tgC>tgT	p.C104C	ADCY8_ENST00000377928.3_Silent_p.C104C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	104					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTTTGGTGCCGCAGGTGCTGT	0.731										HNSCC(32;0.087)			False	0	False	8:132052268	0	A	132052268	G	A	132052268	2	1	115	1	0	0	0	0	0	0	0	1	300	1079	38	1		1	ADCY8	8	132052268	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	101047313	132052268	14311754	36	31349											
GOLGA1	2800	broad.mit.edu	37	chr9	127650555	127650555	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttttctccagaagttgctGctccaagtcctgtttctcct	6	12	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr9:127650555G>A	ENST00000373555.4	-	19	2215	c.1882C>T	c.(1882-1884)Cag>Tag	p.Q628*		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	628						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGAAGTTGCTGCTCCAAGTCC	0.517													False	0	False	9:127650555	0	A	127650555	G	A	127650555	4	1	115	1	0	0	0	0	0	1	0	0	6596	1328	46	2	441	2	GOLGA1	9	127650555	Nonsense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		127650555	13562876	37	31350											
GOLGA1	2800	broad.mit.edu	37	chr9	127650651	127650651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttggaagctggaacacagGgtcctgcatggccctcgagg	15	10	0	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr9:127650651G>A	ENST00000373555.4	-	19	2119	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	596						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGGAACACAGGGTCCTGCATG	0.557													False	0	True	9:127650651	0	A	127650651	G	A	127650651	3	1	115	1	0	0	0	0	1	0	0	0	6596	1232	43	2	537	2	GOLGA1	9	127650651	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	96	127650651	13562780	38	31351											
MMP21	118856	broad.mit.edu	37	chr10	127461268	127461268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctaggcgccaggcgtgtGcaaactcctgcccgctccca	10	18	0	0	rs146859109		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr10:127461268G>A	ENST00000368808.3	-	3	748	c.749C>T	c.(748-750)gCa>gTa	p.A250V		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	250					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCAGGCGTGTGCAAACTCCTG	0.647													False	0	False	10:127461268	0	A	127461268	G	A	127461268	3	1	115	1	0	0	0	0	1	0	0	0	9727	1319	46	2	980	2	MMP21	10	127461268	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		127461268	8073479	39	31352											
NAALAD2	10003	broad.mit.edu	37	chr11	89868837	89868837	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaacatcaaatcatttcttCggtaagtttattttacgtat	4	6	3	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr11:89868837C>T	ENST00000534061.1	+	2	423	c.194_splice	c.e2+1	p.R65_splice	NAALAD2_ENST00000525171.1_Splice_Site_p.R65_splice|NAALAD2_ENST00000321955.4_Splice_Site_p.R65_splice|NAALAD2_ENST00000375944.3_Splice_Site_p.R65_splice	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	65					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATCATTTCTTCGGTAAGTTTA	0.348													False	0	False	11:89868837	0	T	89868837	C	T	89868837	5	4	115	1	0	0	0	0	0	0	1	0	10195	898	31	1	199	1	NAALAD2	11	89868837	Splice_Site	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08		89868837	45137679	40	31353											
CADM1	23705	broad.mit.edu	37	chr11	115109255	115109255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtaactttcctgtgggGgatcggtatagagctggcaa	15	6	0	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr11:115109255G>A	ENST00000542447.2	-	3	517	c.389C>T	c.(388-390)cCc>cTc	p.P130L	CADM1_ENST00000331581.6_Missense_Mutation_p.P130L|CADM1_ENST00000537058.1_Missense_Mutation_p.P130L|CADM1_ENST00000536727.1_Missense_Mutation_p.P130L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Missense_Mutation_p.P130L	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	130	Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TTCCTGTGGGGGATCGGTATA	0.448													False	0	True	11:115109255	0	A	115109255	G	A	115109255	3	1	115	1	0	0	0	0	1	0	0	0	2586	1232	43	2	971	2	CADM1	11	115109255	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	25240418	115109255	19897261	41	31354											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	115	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08		25398285	108453610	42	31355											
STAB2	55576	broad.mit.edu	37	chr12	104048365	104048365	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcttaaactccatggaggCaaaaagaaggtaaaaattat	8	5	0	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr12:104048365C>A	ENST00000388887.2	+	13	1644	c.1440C>A	c.(1438-1440)ggC>ggA	p.G480G		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	480	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCCATGGAGGCAAAAAGAAGG	0.398													False	0	True	12:104048365	0	A	104048365	C	A	104048365	2	1	115	1	0	0	0	0	0	0	0	1	15320	697	25	3		3	STAB2	12	104048365	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	78650080	104048365	29803530	43	31356											
XPO4	64328	broad.mit.edu	37	chr13	21375026	21375026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcccagcgttttaaaaAccaaacaatatctttgccca	4	12	1	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr13:21375026A>G	ENST00000400602.2	-	14	1956	c.1921T>C	c.(1921-1923)Ttt>Ctt	p.F641L	XPO4_ENST00000255305.6_Missense_Mutation_p.F641L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	641					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CGTTTTAAAAACCAAACAATA	0.378													False	0	True	13:21375026	0	G	21375026	A	G	21375026	3	3	115	1	0	0	0	0	1	0	0	0	17530	43	2	4	1574	4	XPO4	13	21375026	Missense_Mutation	SNP	A	TCGA-IB-AAUR-01A-21D-A38G-08		21375026	93794852	44	31357											
ACOT4	122970	broad.mit.edu	37	chr14	74058829	74058829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcgcgctactgcgccgacGcccgcggcgagctggacctg	15	17	0	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr14:74058829G>A	ENST00000326303.4	+	1	420	c.166G>A	c.(166-168)Gcc>Acc	p.A56T		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	56					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CTGCGCCGACGCCCGCGGCGA	0.771													False	0	True	14:74058829	0	A	74058829	G	A	74058829	3	1	115	1	0	0	0	0	1	0	0	0	153	1087	38	1	168	1	ACOT4	14	74058829	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		74058829	33290711	45	31358											
CCDC88C	440193	broad.mit.edu	37	chr14	91791261	91791261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattcgtttcttatctgtgtCccggtcctggggcaagcaag	11	10	2	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr14:91791261C>T	ENST00000389857.6	-	12	1290	c.1204G>A	c.(1204-1206)Gac>Aac	p.D402N		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	402					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTATCTGTGTCCCGGTCCTGG	0.542													False	0	True	14:91791261	0	T	91791261	C	T	91791261	3	4	115	1	0	0	0	0	1	0	0	0	2886	855	30	2	4958	2	CCDC88C	14	91791261	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	17732432	91791261	15558279	46	31359											
AHNAK2	113146	broad.mit.edu	37	chr14	105412407	105412407	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcggccagggacaggtcCccctccagccgtgcaccatc	11	17	0	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr14:105412407C>A	ENST00000333244.5	-	7	9500	c.9381G>T	c.(9379-9381)ggG>ggT	p.G3127G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3127						nucleus		p.G3127G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACAGGTCCCCCTCCAGCC	0.622													False	0	True	14:105412407	0	A	105412407	C	A	105412407	2	1	115	1	0	0	0	0	0	0	0	1	415	610	22	3		3	AHNAK2	14	105412407	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	13621146	105412407	1937133	47	31360											
MGA	23269	broad.mit.edu	37	chr15	42041764	42041764	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaacaaactcaataaaaagaGagcaagaaacgaagaaggtt	8	5	1	3			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:42041764G>T	ENST00000219905.7	+	17	6140	c.5959G>T	c.(5959-5961)Gag>Tag	p.E1987*	MGA_ENST00000566586.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000570161.1_Nonsense_Mutation_p.E1987*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E1948*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1948						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATAAAAAGAGAGCAAGAAAC	0.428													False	0	True	15:42041764	0	T	42041764	G	T	42041764	4	4	115	1	0	0	0	0	0	1	0	0	9607	943	33	3	6021	3	MGA	15	42041764	Nonsense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		42041764	60489628	48	31361											
NARG2	79664	broad.mit.edu	37	chr15	60720749	60720749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagggaactgagagactgGaaggtacaccaggaaggccg	15	10	0	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:60720749G>A	ENST00000261520.4	-	15	2933	c.2699C>T	c.(2698-2700)tCc>tTc	p.S900F	NARG2_ENST00000439632.1_Missense_Mutation_p.S763F	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	900						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TGAGAGACTGGAAGGTACACC	0.423													False	0	False	15:60720749	0	A	60720749	G	A	60720749	3	1	115	1	0	0	0	0	1	0	0	0	10236	1174	41	2	257	2	NARG2	15	60720749	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	18678985	60720749	41810643	49	31362											
PML	5371	broad.mit.edu	37	chr15	74327546	74327560	+	In_Frame_Del	DEL	TCCTCGCCAGCCCAC	TCCTCGCCAGCCCAC	-													tggagaccgccgagccacagTcctcgccagcccactcctcg					rs78340702		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	TCCTCGCCAGCCCAC	TCCTCGCCAGCCCAC	-	-	TCCTCGCCAGCCCAC	TCCTCGCCAGCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:74327546_74327560delTCCTCGCCAGCCCAC	ENST00000268059.6	+	8	1840_1854	c.1744_1758delTCCTCGCCAGCCCAC	c.(1744-1758)tcctcgccagcccacdel	p.SSPAH592del	PML_ENST00000569965.1_Intron|PML_ENST00000569477.1_In_Frame_Del_p.LASPL606del|PML_ENST00000435786.2_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_In_Frame_Del_p.SSPAH544del|PML_ENST00000359928.4_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000563500.1_3'UTR	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	44					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CGAGCCACAGTCCTCGCCAGCCCACTCCTCGCCAG	0.637			T	"RARA, PAX5"	"APL, ALL"								False	1	False	15:74327546	0	-	74327560	TCCTCGCCAGCCCAC	-	74327546	7	5	115	1	0	1	0	1	0	0	0	0	12204	1667	58	0	1908	0	PML	15	74327546	In_Frame_Del	DEL	TCCTCGCCAGCCCAC	TCGA-IB-AAUR-01A-21D-A38G-08	13606797	74327546	28203846	50	31363											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651305	84651305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccatggtcttgctgccccCgacatcggcgtgtaccggtg	12	14	1	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:84651305C>T	ENST00000286744.5	+	21	3149	c.2925C>T	c.(2923-2925)ccC>ccT	p.P975P	ADAMTSL3_ENST00000567476.1_Silent_p.P975P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	975	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGCTGCCCCCGACATCGGCG	0.567													False	0	True	15:84651305	0	T	84651305	C	T	84651305	2	4	115	1	0	0	0	0	0	0	0	1	276	639	23	1		1	ADAMTSL3	15	84651305	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	10323759	84651305	17880087	51	31364											
IGF1R	3480	broad.mit.edu	37	chr15	99454671	99454671	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtttactacaaggaagcGtgagtttctgctttgggtga	12	7	1	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:99454671G>A	ENST00000268035.6	+	7	2200		c.e7+1		IGF1R_ENST00000558762.1_Splice_Site	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor						anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ACAAGGAAGCGTGAGTTTCTG	0.537													False	0	False	15:99454671	0	A	99454671	G	A	99454671	5	1	115	1	0	0	0	0	0	0	1	0	7621	1159	40	1	1616	1	IGF1R	15	99454671	Splice_Site	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	14803366	99454671	3076721	52	31365											
PPL	5493	broad.mit.edu	37	chr16	4935121	4935121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgccttggggtctggccGcacgatctcccgcaccttct	10	17	3	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:4935121G>A	ENST00000345988.2	-	22	3624	c.3535C>T	c.(3535-3537)Cgg>Tgg	p.R1179W	PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1179					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGGTCTGGCCGCACGATCTCC	0.627													False	0	False	16:4935121	0	A	4935121	G	A	4935121	3	1	115	1	0	0	0	0	1	0	0	0	12408	1086	38	1	1739	1	PPL	16	4935121	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		4935121	85419632	53	31366											
ITGAD	3681	broad.mit.edu	37	chr16	31409124	31409124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcctccaggcctgtggCccgaccctgcacagagtctg	11	16	2	1	rs12922480		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:31409124C>T	ENST00000389202.2	+	5	370	c.321C>T	c.(319-321)ggC>ggT	p.G107G		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	107					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGCCTGTGGCCCGACCCTGC	0.657													False	0	True	16:31409124	0	T	31409124	C	T	31409124	2	4	115	1	0	0	0	0	0	0	0	1	7934	726	26	2		2	ITGAD	16	31409124	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	26474003	31409124	58945629	54	31367											
CDH11	1009	broad.mit.edu	37	chr16	64981668	64981668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccctgccttcataaccGtagatttgaatggagtcata	9	10	2	2	rs145843219	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:64981668G>A	ENST00000268603.4	-	13	2844	c.2229C>T	c.(2227-2229)taC>taT	p.Y743Y	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Silent_p.Y617Y	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	743					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTTCATAACCGTAGATTTGAA	0.537			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			False	0	False	16:64981668	0	A	64981668	G	A	64981668	2	1	115	1	0	0	0	0	0	0	0	1	3120	1140	40	1		1	CDH11	16	64981668	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	33572544	64981668	25373085	55	31368											
PFAS	5198	broad.mit.edu	37	chr17	8172434	8172434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgctcctgtgatggccGccacctggctgtcatgcctc	10	16	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:8172434G>A	ENST00000314666.6	+	28	4002	c.3869G>A	c.(3868-3870)cGc>cAc	p.R1290H	PFAS_ENST00000545834.1_Missense_Mutation_p.R866H	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1290	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGTGATGGCCGCCACCTGGCT	0.642													False	0	False	17:8172434	0	A	8172434	G	A	8172434	3	1	115	1	0	0	0	0	1	0	0	0	11823	1087	38	1	3975	1	PFAS	17	8172434	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		8172434	73022776	56	31369											
GPR179	440435	broad.mit.edu	37	chr17	36491506	36491506	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtatgatggtgccgtagacGatggcaaaacccagcagccg	13	10	0	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:36491506G>A	ENST00000342292.4	-	6	1394	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	458						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGCCGTAGACGATGGCAAAAC	0.547													False	0	False	17:36491506	0	A	36491506	G	A	36491506	2	1	115	1	0	0	0	0	0	0	0	1	6720	1048	37	1		1	GPR179	17	36491506	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	28319072	36491506	44703704	57	31370											
CASC3	22794	broad.mit.edu	37	chr17	38324149	38324149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtgacagccctgccccGctgcctccacagggcatgct	11	17	0	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:38324149G>A	ENST00000264645.7	+	10	1924	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	566	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCCCTGCCCCGCTGCCTCCAC	0.502													False	0	True	17:38324149	0	A	38324149	G	A	38324149	2	1	115	1	0	0	0	0	0	0	0	1	2681	1074	38	1		1	CASC3	17	38324149	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	1832643	38324149	42871061	58	31371											
KRT25	147183	broad.mit.edu	37	chr17	38907438	38907438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcgttgaaccaggcctcCgcgtccctgcggttctgctc	10	16	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:38907438C>T	ENST00000312150.4	-	4	870	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	270	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ACCAGGCCTCCGCGTCCCTGC	0.532													False	0	False	17:38907438	0	T	38907438	C	T	38907438	2	4	115	1	0	0	0	0	0	0	0	1	8512	639	23	1		1	KRT25	17	38907438	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	583289	38907438	42287772	59	31372											
HDAC5	10014	broad.mit.edu	37	chr17	42157539	42157539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacagcatcaaacccggcGgagactaggaccacatcagg	10	13	3	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:42157539G>A	ENST00000225983.6	-	23	3206	c.2883C>T	c.(2881-2883)tcC>tcT	p.S961S	HDAC5_ENST00000336057.5_Silent_p.S875S|HDAC5_ENST00000586802.1_Silent_p.S960S|HDAC5_ENST00000393622.2_Silent_p.S960S			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	960	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CAAACCCGGCGGAGACTAGGA	0.577													False	0	False	17:42157539	0	A	42157539	G	A	42157539	2	1	115	1	0	0	0	0	0	0	0	1	7057	1103	39	1		1	HDAC5	17	42157539	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	3250101	42157539	39037671	60	31373											
CCDC47	57003	broad.mit.edu	37	chr17	61833870	61833870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcgcaccaaggctttccGtgtgccaacagcaaatacgt	9	12	0	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:61833870G>A	ENST00000225726.5	-	7	1178	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	CCDC47_ENST00000582252.1_Missense_Mutation_p.R266W|CCDC47_ENST00000403162.3_Missense_Mutation_p.R266W	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	266						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AAGGCTTTCCGTGTGCCAACA	0.378													False	0	False	17:61833870	0	A	61833870	G	A	61833870	3	1	115	1	0	0	0	0	1	0	0	0	2839	1144	40	1	683	1	CCDC47	17	61833870	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	19676331	61833870	19361340	61	31374											
CACNG4	27092	broad.mit.edu	37	chr17	65021069	65021069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggcaggatctacagccGcaagaacaacatcgtcctca	9	13	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:65021069G>A	ENST00000262138.3	+	3	400	c.398G>A	c.(397-399)cGc>cAc	p.R133H		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	133					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ATCTACAGCCGCAAGAACAAC	0.672													False	0	False	17:65021069	0	A	65021069	G	A	65021069	3	1	115	1	0	0	0	0	1	0	0	0	2579	1087	38	1	408	1	CACNG4	17	65021069	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	3187199	65021069	16174141	62	31375											
BPTF	2186	broad.mit.edu	37	chr17	65882284	65882284	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagcagtaacactagtgcTaccactacctccatccagcc	7	15	0	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:65882284T>C	ENST00000321892.4	+	6	2155	c.2094T>C	c.(2092-2094)gcT>gcC	p.A698A	BPTF_ENST00000335221.5_Silent_p.A698A|BPTF_ENST00000424123.3_Silent_p.A559A|BPTF_ENST00000306378.6_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	698	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACACTAGTGCTACCACTACCT	0.383													False	0	False	17:65882284	0	C	65882284	T	C	65882284	2	2	115	1	0	0	0	0	0	0	0	1	1502	1509	53	4		4	BPTF	17	65882284	Silent	SNP	T	TCGA-IB-AAUR-01A-21D-A38G-08	861215	65882284	15312926	63	31376											
TTYH2	94015	broad.mit.edu	37	chr17	72248384	72248384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctccaggattatctggaCgctcttgctggcatctgcta	9	12	3	0	rs139944691		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:72248384C>T	ENST00000441391.2	+	5	1377	c.165C>T	c.(163-165)gaC>gaT	p.D55D	TTYH2_ENST00000529107.1_Silent_p.D355D|TTYH2_ENST00000269346.4_Silent_p.D376D	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	376						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ATTATCTGGACGCTCTTGCTG	0.622													False	0	False	17:72248384	0	T	72248384	C	T	72248384	2	4	115	1	0	0	0	0	0	0	0	1	16824	535	19	1		1	TTYH2	17	72248384	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	6366100	72248384	8946826	64	31377											
AANAT	15	broad.mit.edu	37	chr17	74464914	74464914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccgagctgtcagcggcGccacacactccctgccagtg	11	18	1	0	rs141006262	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:74464914G>A	ENST00000250615.3	+	5	1228	c.221G>A	c.(220-222)cGc>cAc	p.R74H	AANAT_ENST00000392492.3_Missense_Mutation_p.R29H	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	29	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						TGTCAGCGGCGCCACACACTC	0.662													False	0	False	17:74464914	0	A	74464914	G	A	74464914	3	1	115	1	0	0	0	0	1	0	0	0	18	1087	38	1	227	1	AANAT	17	74464914	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	2216530	74464914	6730296	65	31378											
PIAS2	9063	broad.mit.edu	37	chr18	44435568	44435568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatctctcctaccacctgGcaaaaaatccctgttggaaa	5	12	1	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr18:44435568G>A	ENST00000585916.1	-	4	594	c.595C>T	c.(595-597)Cca>Tca	p.P199S	PIAS2_ENST00000545673.1_5'UTR|PIAS2_ENST00000324794.7_Missense_Mutation_p.P199S	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	199	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CTACCACCTGGCAAAAAATCC	0.363													False	0	False	18:44435568	0	A	44435568	G	A	44435568	3	1	115	1	0	0	0	0	1	0	0	0	11945	1203	42	2	1389	2	PIAS2	18	44435568	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		44435568	33641680	66	31379											
SMAD4	4089	broad.mit.edu	37	chr18	48591901	48591901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgttgatggatacgtggAcccttctggaggagatcgct	13	8	1	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr18:48591901A>G	ENST00000342988.3	+	9	1602	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	SMAD4_ENST00000398417.2_Missense_Mutation_p.D355G|SMAD4_ENST00000588745.1_Missense_Mutation_p.D259G	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	355	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGATACGTGGACCCTTCTGGA	0.428													False	0	True	18:48591901	0	G	48591901	A	G	48591901	3	3	115	1	0	0	0	0	1	0	0	0	14840	275	10	4	1094	4	SMAD4	18	48591901	Missense_Mutation	SNP	A	TCGA-IB-AAUR-01A-21D-A38G-08	4156333	48591901	29485347	67	31380											
MCOLN1	57192	broad.mit.edu	37	chr19	7591452	7591452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttcgcagcctacacgcGggagcagctgtaccaggcca	11	16	0	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:7591452G>A	ENST00000264079.6	+	3	490	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	122					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	p.R122L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCTACACGCGGGAGCAGCTG	0.652													False	0	True	19:7591452	0	A	7591452	G	A	7591452	3	1	115	1	0	0	0	0	1	0	0	0	9462	1116	39	1	375	1	MCOLN1	19	7591452	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		7591452	51537531	68	31381											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													False	0	True	19:9090831	0	G	9090831	A	G	9090831	2	3	115	1	0	0	0	0	0	0	0	1	10040	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-IB-AAUR-01A-21D-A38G-08	1499379	9090831	50038152	69	31382											
SLC27A1	376497	broad.mit.edu	37	chr19	17611112	17611112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgtggtttcaacagccGcatcctgccccacgtgtacc	8	17	1	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:17611112G>A	ENST00000252595.7	+	8	1329	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R232H|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R411H	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	411	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCAACAGCCGCATCCTGCCC	0.612													False	0	False	19:17611112	0	A	17611112	G	A	17611112	3	1	115	1	0	0	0	0	1	0	0	0	14605	1087	38	1	1262	1	SLC27A1	19	17611112	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	8520281	17611112	41517871	70	31383											
TFPT	29844	broad.mit.edu	37	chr19	54617951	54617951	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggagccctgagccgcccagAccacctgacacaaactccac	8	19	0	3			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:54617951A>G	ENST00000391759.1	-	2	558	c.153T>C	c.(151-153)ggT>ggC	p.G51G	TFPT_ENST00000391757.1_Silent_p.G51G|TFPT_ENST00000391758.1_Silent_p.G42G	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	51					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					AGCCGCCCAGACCACCTGACA	0.637			T	TCF3	pre-B ALL								False	0	False	19:54617951	0	G	54617951	A	G	54617951	2	3	115	1	0	0	0	0	0	0	0	1	15892	262	10	4		4	TFPT	19	54617951	Silent	SNP	A	TCGA-IB-AAUR-01A-21D-A38G-08	37006839	54617951	4511032	71	31384											
PTPRT	11122	broad.mit.edu	37	chr20	40827887	40827887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctctacttactgaatccGttgacgtcctgagaactaga	9	10	1	4			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr20:40827887G>A	ENST00000373198.3	-	17	2785	c.2550C>T	c.(2548-2550)aaC>aaT	p.N850N	PTPRT_ENST00000373190.1_Silent_p.N828N|PTPRT_ENST00000356100.2_Silent_p.N837N|PTPRT_ENST00000373187.1_Silent_p.N828N|PTPRT_ENST00000373184.1_Silent_p.N818N|PTPRT_ENST00000373193.3_Silent_p.N831N|PTPRT_ENST00000373201.1_Silent_p.N818N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	828					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACTGAATCCGTTGACGTCCT	0.562													False	0	False	20:40827887	0	A	40827887	G	A	40827887	2	1	115	1	0	0	0	0	0	0	0	1	12891	1136	40	1		1	PTPRT	20	40827887	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		40827887	22197633	72	31385											
NEURL2	140825	broad.mit.edu	37	chr20	44517457	44517457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcccatcaatggccagCcggtgcaccatgctcctttg	11	14	1	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr20:44517457C>T	ENST00000372518.4	-	2	1093	c.798G>A	c.(796-798)cgG>cgA	p.R266R		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	266	SOCS box.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAATGGCCAGCCGGTGCACCA	0.552													False	0	False	20:44517457	0	T	44517457	C	T	44517457	2	4	115	1	0	0	0	0	0	0	0	1	10414	726	26	2		2	NEURL2	20	44517457	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	3689570	44517457	18508063	73	31386											
KRTAP21-1	337977	broad.mit.edu	37	chr21	32127654	32127654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatagccacagccacagcCggagccatagccacaggagt	11	15	0	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr21:32127654C>T	ENST00000335093.3	-	1	92	c.43G>A	c.(43-45)Ggc>Agc	p.G15S		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	15			G -> S (in a breast cancer sample; somatic mutation).			intermediate filament		p.G15S(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						cagccacagccggagccatag	0.537													False	0	False	21:32127654	0	T	32127654	C	T	32127654	3	4	115	1	0	0	0	0	1	0	0	0	8588	652	23	1	198	1	KRTAP21-1	21	32127654	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08		32127654	16002241	74	31387											
SH3BP1	23616	broad.mit.edu	37	chr22	38041378	38041378	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttcatccctgcagaccactCcccttcgatgacagccaccc	5	19	1	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr22:38041378C>A	ENST00000599616.1	+	8	593	c.593C>A	c.(592-594)tCc>tAc	p.S198Y	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Missense_Mutation_p.S262Y|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.S262Y|SH3BP1_ENST00000357436.4_Missense_Mutation_p.S262Y			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	262	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GCAGACCACTCCCCTTCGATG	0.652													False	0	True	22:38041378	0	A	38041378	C	A	38041378	3	1	115	1	0	0	0	0	1	0	0	0	14325	855	30	3	823	3	SH3BP1	22	38041378	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08		38041378	13263188	75	31388											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998523	27998523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcaatggtgaacacaAcggcatcttcacctgaagtg	11	9	3	3			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chrX:27998523A>C	ENST00000441525.1	-	1	1043	c.929T>G	c.(928-930)gTt>gGt	p.V310G		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	310										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GGTGAACACAACGGCATCTTC	0.478													False	0	False	X:27998523	0	C	27998523	A	C	27998523	3	2	115	1	0	0	0	0	1	0	0	0	4302	43	2	4	877	4	DCAF8L1	23	27998523	Missense_Mutation	SNP	A	TCGA-IB-AAUR-01A-21D-A38G-08		27998523	127272037	76	31389											
DRP2	1821	broad.mit.edu	37	chrX	100492764	100492764	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagaaggagacacatgcGgtaggttagaatcagagaag	15	5	1	4			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chrX:100492764G>A	ENST00000395209.3	+	5	965	c.438_splice	c.e5+1	p.A146_splice	DRP2_ENST00000538510.1_Splice_Site_p.A146_splice|DRP2_ENST00000541709.1_Splice_Site_p.A68_splice|DRP2_ENST00000402866.1_Splice_Site_p.A146_splice	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	146					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AGACACATGCGGTAGGTTAGA	0.547													False	0	False	X:100492764	0	A	100492764	G	A	100492764	5	1	115	1	0	0	0	0	0	0	1	0	4794	1130	39	1	448	1	DRP2	23	100492764	Splice_Site	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	72494241	100492764	54777796	77	31390											
EPHA2	1969	broad.mit.edu	37	chr1	16458656	16458656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttgacgaggatgttgCgggcagccaggtcacggtgc	17	9	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:16458656C>T	ENST00000358432.5	-	13	2382	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	743	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GAGGATGTTGCGGGCAGCCAG	0.612													False	0	True	1:16458656	0	T	16458656	C	T	16458656	3	4	116	1	0	0	0	0	1	0	0	0	5199	768	27	1	722	1	EPHA2	1	16458656	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08		16458656	232791965	1	31391											
THRAP3	9967	broad.mit.edu	37	chr1	36766557	36766557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcatctcactcctacaaaGcagaagagtacactgaagag	8	10	2	4			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:36766557G>A	ENST00000354618.5	+	10	2598	c.2374G>A	c.(2374-2376)Gca>Aca	p.A792T	THRAP3_ENST00000469141.2_Missense_Mutation_p.A792T	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	792					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCTACAAAGCAGAAGAGTA	0.502			T	USP6	aneurysmal bone cysts								False	0	True	1:36766557	0	A	36766557	G	A	36766557	3	1	116	1	0	0	0	0	1	0	0	0	15956	971	34	2	2404	2	THRAP3	1	36766557	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	20307901	36766557	212484064	2	31392											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334298	77334298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcaacagcagcagcaggcgtc	13	14	0	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:77334298G>A	ENST00000477717.1	+	2	367	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	44	Poly-Gln.				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						agcagcagcagcaacagcagc	0.711													False	0	True	1:77334298	0	A	77334298	G	A	77334298	2	1	116	1	0	0	0	0	0	0	0	1	15309	962	34	2		2	ST6GALNAC5	1	77334298	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	40567741	77334298	171916323	3	31393											
CYB561D1	284613	broad.mit.edu	37	chr1	110038541	110038541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatctccagcaggacccGcagtgagctgcctcatctgg	10	15	4	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:110038541G>A	ENST00000420578.2	+	3	390	c.350G>A	c.(349-351)cGc>cAc	p.R117H	CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000393709.3_Missense_Mutation_p.R60H|CYB561D1_ENST00000369868.3_Missense_Mutation_p.R139H|CYB561D1_ENST00000528785.1_Missense_Mutation_p.R117H|CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000496961.1_3'UTR			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	117	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AGCAGGACCCGCAGTGAGCTG	0.637													False	0	True	1:110038541	0	A	110038541	G	A	110038541	3	1	116	1	0	0	0	0	1	0	0	0	4145	1087	38	1	545	1	CYB561D1	1	110038541	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	32704243	110038541	139212080	4	31394											
MTR	4548	broad.mit.edu	37	chr1	237054527	237054527	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcccggggtgtggttgggttCtggccagcacagagtatcca	16	10	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:237054527C>G	ENST00000366577.5	+	29	3496	c.3102C>G	c.(3100-3102)ttC>ttG	p.F1034L	MTR_ENST00000535889.1_Missense_Mutation_p.F983L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1034	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGGTTGGGTTCTGGCCAGCAC	0.542													False	0	False	1:237054527	0	G	237054527	C	G	237054527	3	3	116	1	0	0	0	0	1	0	0	0	10025	912	32	5	3216	5	MTR	1	237054527	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	127015986	237054527	12196094	5	31395											
TTC31	64427	broad.mit.edu	37	chr2	74717251	74717251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggctgcagctgtggcacCatggtggggagtgcagggac	20	9	0	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:74717251C>T	ENST00000410003.1	+	3	238	c.229C>T	c.(229-231)Cat>Tat	p.H77Y	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000463189.1_Intron|TTC31_ENST00000233623.5_Missense_Mutation_p.H77Y			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	77							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCTGTGGCACCATGGTGGGGA	0.632													False	0	False	2:74717251	0	T	74717251	C	T	74717251	3	4	116	1	0	0	0	0	1	0	0	0	16784	594	21	2	239	2	TTC31	2	74717251	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08		74717251	168482122	6	31396											
ERCC3	2071	broad.mit.edu	37	chr2	128046235	128046235	+	Splice_Site	DEL	C	C	-													cttaactctggtaccacttaCcgcagggaagaacaatgacc							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:128046235delC	ENST00000285398.2	-	7	1122		c.e7+1		ERCC3_ENST00000493187.2_Splice_Site	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3						cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTACCACTTACCGCAGGGAAG	0.532			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	2	False	2:128046235	0	-	128046235	C	-	128046235	8	5	116	1	0	1	0	1	0	0	1	0	5246	521	18	0	1356	0	ERCC3	2	128046235	Splice_Site	DEL	C	TCGA-IB-AAUS-01A-12D-A38G-08	53328984	128046235	115153138	7	31397											
CNTN4	152330	broad.mit.edu	37	chr3	2777910	2777910	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatttcagatgattccacaCtgcatggcccgatttttatt	6	10	2	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:2777910C>A	ENST00000397461.1	+	4	451	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	CNTN4_ENST00000427331.1_Missense_Mutation_p.L23M|CNTN4_ENST00000418658.1_Missense_Mutation_p.L23M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	23					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGATTCCACACTGCATGGCCC	0.363													False	0	False	3:2777910	0	A	2777910	C	A	2777910	3	1	116	1	0	0	0	0	1	0	0	0	3666	564	20	3	73	3	CNTN4	3	2777910	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08		2777910	195244520	8	31398											
CASR	846	broad.mit.edu	37	chr3	122003470	122003470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcccgggccacgctgcGccgcagcaacgtctcccgca	13	19	1	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:122003470G>A	ENST00000498619.1	+	7	3137	c.2699G>A	c.(2698-2700)cGc>cAc	p.R900H	CASR_ENST00000490131.1_Missense_Mutation_p.R890H|CASR_ENST00000296154.5_Missense_Mutation_p.R890H	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	890	Interaction with RNF19A.				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCACGCTGCGCCGCAGCAAC	0.627													False	0	False	3:122003470	0	A	122003470	G	A	122003470	3	1	116	1	0	0	0	0	1	0	0	0	2702	1087	38	1	2721	1	CASR	3	122003470	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	119225560	122003470	76018960	9	31399											
MBNL1	4154	broad.mit.edu	37	chr3	152150611	152150611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcccggcagagatcttgCcgactgcaccaatgttggtt	12	11	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:152150611C>T	ENST00000282486.6	+	4	2293	c.451C>T	c.(451-453)Ccg>Tcg	p.P151S	MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000493459.1_Missense_Mutation_p.P94S|MBNL1_ENST00000355460.2_Missense_Mutation_p.P151S|MBNL1_ENST00000324196.5_Missense_Mutation_p.P151S|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000357472.3_Missense_Mutation_p.P151S|MBNL1_ENST00000492948.1_Missense_Mutation_p.P151S|MBNL1_ENST00000463374.1_Missense_Mutation_p.P151S|MBNL1_ENST00000498502.1_Missense_Mutation_p.P151S|MBNL1_ENST00000324210.5_Missense_Mutation_p.P151S|MBNL1_ENST00000485509.1_Missense_Mutation_p.P151S|MBNL1_ENST00000545754.1_Intron			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	151					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGAGATCTTGCCGACTGCACC	0.532													False	0	False	3:152150611	0	T	152150611	C	T	152150611	3	4	116	1	0	0	0	0	1	0	0	0	9420	739	26	2	461	2	MBNL1	3	152150611	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	30147141	152150611	45871819	10	31400											
PIK3CA	5290	broad.mit.edu	37	chr3	178951974	178951974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgatgcttggctctggaaTgccagaactacaatcttttg	9	8	2	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:178951974T>C	ENST00000263967.3	+	21	3186	c.3029T>C	c.(3028-3030)aTg>aCg	p.M1010T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1010	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GGCTCTGGAATGCCAGAACTA	0.383		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			False	0	False	3:178951974	0	C	178951974	T	C	178951974	3	2	116	1	0	0	0	0	1	0	0	0	11982	1464	51	4	3107	4	PIK3CA	3	178951974	Missense_Mutation	SNP	T	TCGA-IB-AAUS-01A-12D-A38G-08	26801363	178951974	19070456	11	31401											
TERT	0	broad.mit.edu	37	chr5	1282622	1282622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttgaaacgtggtctccGtgacataaaagaaagacctg	9	8	2	4			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:1282622G>A	ENST00000310581.5	-	3	1748	c.1691C>T	c.(1690-1692)aCg>aTg	p.T564M	TERT_ENST00000334602.6_Missense_Mutation_p.T564M|TERT_ENST00000296820.5_Missense_Mutation_p.T564M|TERT_ENST00000508104.2_Missense_Mutation_p.T564M	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	564					anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTGGTCTCCGTGACATAAAA	0.532									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				False	0	False	5:1282622	0	A	1282622	G	A	1282622	3	1	116	1	0	0	0	0	1	0	0	0	15846	1145	40	1	1763	1	TERT	5	1282622	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		1282622	179632638	12	31402											
DMGDH	29958	broad.mit.edu	37	chr5	78326807	78326807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctcaaaccagtttgtgCggcgaaaacttggcctgaaa	11	10	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:78326807C>T	ENST00000255189.3	-	10	1560	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H|DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	511					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCAGTTTGTGCGGCGAAAACT	0.398													False	0	False	5:78326807	0	T	78326807	C	T	78326807	3	4	116	1	0	0	0	0	1	0	0	0	4611	768	27	1	1096	1	DMGDH	5	78326807	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	77044185	78326807	102588453	13	31403											
ADAMTS19	171019	broad.mit.edu	37	chr5	129030474	129030474	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatatcagcattgtggaCaatgagaaatgcaaatactt	7	5	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:129030474C>A	ENST00000274487.4	+	19	3007	c.2862C>A	c.(2860-2862)gaC>gaA	p.D954E	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	954	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCATTGTGGACAATGAGAAAT	0.368													False	0	False	5:129030474	0	A	129030474	C	A	129030474	3	1	116	1	0	0	0	0	1	0	0	0	264	477	17	3	2936	3	ADAMTS19	5	129030474	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	50703667	129030474	51884786	14	31404											
PCDHA12	0	broad.mit.edu	37	chr5	140256671	140256671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttccaggtgagcgcgcgCgacgccggcgtgccgcctct	15	16	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140256671C>T	ENST00000398631.2	+	1	1614	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCCGGCG	0.692													False	0	True	5:140256671	0	T	140256671	C	T	140256671	2	4	116	1	0	0	0	0	0	0	0	1	11590	755	27	1		1	PCDHA12	5	140256671	Silent	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	11226197	140256671	40658589	15	31405											
PCDHAC2	0	broad.mit.edu	37	chr5	140347636	140347636	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgagcggcccactggacCgagagcgggtggctgtctac	17	11	1	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140347636C>T	ENST00000289269.5	+	1	1817	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACTGGACCGAGAGCGGGT	0.572													False	0	False	5:140347636	0	T	140347636	C	T	140347636	4	4	116	1	0	0	0	0	0	1	0	0	11601	644	23	1	1287	1	PCDHAC2	5	140347636	Nonsense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	90965	140347636	40567624	16	31406											
PCDHB11	0	broad.mit.edu	37	chr5	140580809	140580809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaacgcccaggtcaacTactcgctactcccgccccag	7	20	1	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140580809T>C	ENST00000354757.3	+	1	1462	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.Y123H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		488	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGTCAACTACTCGCTACT	0.632													False	0	False	5:140580809	0	C	140580809	T	C	140580809	3	2	116	1	0	0	0	0	1	0	0	0	11604	1522	53	4	1464	4	PCDHB11	5	140580809	Missense_Mutation	SNP	T	TCGA-IB-AAUS-01A-12D-A38G-08	233173	140580809	40334451	17	31407											
GABRA6	2559	broad.mit.edu	37	chr5	161115979	161115979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacgatggatgtttttttcCgccagacctggactgatgag	11	8	0	3			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:161115979C>T	ENST00000274545.5	+	4	683	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Intron			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	84					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTTTTTTCCGCCAGACCTG	0.408										TCGA Ovarian(5;0.080)			False	0	False	5:161115979	0	T	161115979	C	T	161115979	3	4	116	1	0	0	0	0	1	0	0	0	6207	652	23	1	264	1	GABRA6	5	161115979	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	20535170	161115979	19799281	18	31408											
GRM4	2914	broad.mit.edu	37	chr6	34003844	34003844	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgagcgcttgccctgctcGaagatgcggtagatgcggtt	14	11	0	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:34003844G>A	ENST00000538487.2	-	9	2486	c.2043C>T	c.(2041-2043)ttC>ttT	p.F681F	GRM4_ENST00000374177.3_Silent_p.F565F|GRM4_ENST00000609222.1_Silent_p.F548F|GRM4_ENST00000544773.2_Silent_p.F512F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Silent_p.F548F|GRM4_ENST00000455714.2_Silent_p.F541F|GRM4_ENST00000374181.4_Silent_p.F681F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TGCCCTGCTCGAAGATGCGGT	0.617													False	0	False	6:34003844	0	A	34003844	G	A	34003844	2	1	116	1	0	0	0	0	0	0	0	1	6846	1049	37	1		1	GRM4	6	34003844	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		34003844	137111223	19	31409											
WTAP	9589	broad.mit.edu	37	chr6	160174502	160174502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgcagccaaacagggAaaaagttaatggcgaagtgt	11	7	0	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:160174502A>G	ENST00000358372.4	+	7	2220	c.463A>G	c.(463-465)Aaa>Gaa	p.K155E	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	155					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CCAAACAGGGAAAAAGTTAAT	0.428													False	0	True	6:160174502	0	G	160174502	A	G	160174502	3	3	116	1	0	0	0	0	1	0	0	0	17493	247	9	4	489	4	WTAP	6	160174502	Missense_Mutation	SNP	A	TCGA-IB-AAUS-01A-12D-A38G-08	126170658	160174502	10940565	20	31410											
OSBPL3	26031	broad.mit.edu	37	chr7	24874215	24874215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcgttcagctccaccgGcatggccaccttggacaggt	13	14	1	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:24874215G>A	ENST00000313367.2	-	15	2087	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S	OSBPL3_ENST00000396429.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000431825.2_Missense_Mutation_p.P479S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P515S|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P479S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P515S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	546					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AGCTCCACCGGCATGGCCACC	0.632													False	0	False	7:24874215	0	A	24874215	G	A	24874215	3	1	116	1	0	0	0	0	1	0	0	0	11347	1203	42	2	1063	2	OSBPL3	7	24874215	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		24874215	134264448	21	31411											
COBL	23242	broad.mit.edu	37	chr7	51096317	51096317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcccctagggggttccGgccctcatggtgggcagact	13	16	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:51096317G>A	ENST00000395542.2	-	12	2906	c.2722C>T	c.(2722-2724)Cgg>Tgg	p.R908W	COBL_ENST00000265136.7_Missense_Mutation_p.R826W			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	826										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGGGGGTTCCGGCCCTCATGG	0.622													False	0	False	7:51096317	0	A	51096317	G	A	51096317	3	1	116	1	0	0	0	0	1	0	0	0	3676	1115	39	1	1325	1	COBL	7	51096317	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	26222102	51096317	108042346	22	31412											
AKAP9	10142	broad.mit.edu	37	chr7	91714155	91714155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggatcagactggggtcaGggaatttatcttacacacag	11	8	4	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:91714155G>A	ENST00000359028.2	+	35	8970	c.8745G>A	c.(8743-8745)caG>caA	p.Q2915Q	AKAP9_ENST00000356239.3_Silent_p.Q2911Q|AKAP9_ENST00000358100.2_Intron			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2915					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTGGGGTCAGGGAATTTATC	0.348			T	BRAF	papillary thyroid								False	0	True	7:91714155	0	A	91714155	G	A	91714155	2	1	116	1	0	0	0	0	0	0	0	1	459	991	35	2		2	AKAP9	7	91714155	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	40617838	91714155	67424508	23	31413											
TRRAP	8295	broad.mit.edu	37	chr7	98573795	98573795	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagcgctgctcagcgctttCgttcagctgtgccacatttc	11	13	2	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:98573795C>T	ENST00000359863.4	+	53	8051	c.7842C>T	c.(7840-7842)ttC>ttT	p.F2614F	TRRAP_ENST00000446306.3_Silent_p.F2596F|TRRAP_ENST00000355540.3_Silent_p.F2596F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2614					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGCGCTTTCGTTCAGCTGT	0.567													False	0	True	7:98573795	0	T	98573795	C	T	98573795	2	4	116	1	0	0	0	0	0	0	0	1	16684	883	31	1		1	TRRAP	7	98573795	Silent	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	6859640	98573795	60564868	24	31414											
OR6B1	135946	broad.mit.edu	37	chr7	143701160	143701160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggagcttgagtatgcGggcagccatgtttctgatat	13	9	1	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:143701160G>A	ENST00000408922.2	+	1	139	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTGAGTATGCGGGCAGCCATG	0.502													False	0	True	7:143701160	0	A	143701160	G	A	143701160	3	1	116	1	0	0	0	0	1	0	0	0	11255	1116	39	1	73	1	OR6B1	7	143701160	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	45127365	143701160	15437503	25	31415											
TNFRSF10A	8797	broad.mit.edu	37	chr8	23054711	23054711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagacccttcagcttctgCcggtccctgtaacacacagt	8	15	2	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr8:23054711C>T	ENST00000221132.3	-	9	1085	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	341					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCAGCTTCTGCCGGTCCCTGT	0.557													False	0	False	8:23054711	0	T	23054711	C	T	23054711	3	4	116	1	0	0	0	0	1	0	0	0	16362	739	26	2	393	2	TNFRSF10A	8	23054711	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08		23054711	123309311	26	31416											
MTBP	27085	broad.mit.edu	37	chr8	121500556	121500557	+	Frame_Shift_Ins	INS	-	-	ATTATCTT													gaaagatgaaaacaaagacaINSgaagaagccaaattgagtaa							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr8:121500556_121500557insATTATCTT	ENST00000305949.1	+	12	1368_1369	c.1323_1324insATTATCTT	c.(1324-1326)gaafs	p.E442fs		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	442					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAACAAAGACAGAAGAAGCCAA	0.351													False	0	False	8:121500556	0	ATTATCTT	121500557	-	ATTATCTT	121500556	7	5	116	1	0	1	1	0	0	0	0	0	9979	175	7	0	1369	0	MTBP	8	121500556	Frame_Shift_Ins	INS	-	TCGA-IB-AAUS-01A-12D-A38G-08	98445845	121500556	24863466	27	31417	373	2									
MTBP	27085	broad.mit.edu	37	chr8	121500557	121500558	+	Frame_Shift_Ins	INS	-	-	TT													aaagatgaaaacaaagacagINSaagaagccaaattgagtaag							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr8:121500557_121500558insTT	ENST00000305949.1	+	12	1369_1370	c.1324_1325insTT	c.(1324-1326)gaafs	p.E442fs		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	442					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AACAAAGACAGAAGAAGCCAAA	0.351													False	0	False	8:121500557	0	TT	121500558	-	TT	121500557	7	5	116	1	0	1	1	0	0	0	0	0	9979	943	33	0	1370	0	MTBP	8	121500557	Frame_Shift_Ins	INS	-	TCGA-IB-AAUS-01A-12D-A38G-08	1	121500557	24863465	28	31418	373	2									
PLEC	5339	broad.mit.edu	37	chr8	145024775	145024775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgggggtgcaagctgcGgggccgccggtccttcttgg	17	12	1	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr8:145024775G>A	ENST00000322810.4	-	1	269	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	34	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCAAGCTGCGGGGCCGCCGG	0.692													False	0	True	8:145024775	0	A	145024775	G	A	145024775	3	1	116	1	0	0	0	0	1	0	0	0	12121	1116	39	1	14462	1	PLEC	8	145024775	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	23524218	145024775	1339247	29	31419											
NANS	54187	broad.mit.edu	37	chr9	100843173	100843173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatagcgatatctgtggccGcagtggctctgggggccaag	16	10	2	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:100843173G>A	ENST00000210444.5	+	5	749	c.679G>A	c.(679-681)Gca>Aca	p.A227T	TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	227					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				ATCTGTGGCCGCAGTGGCTCT	0.498													False	0	False	9:100843173	0	A	100843173	G	A	100843173	3	1	116	1	0	0	0	0	1	0	0	0	10222	1087	38	1	697	1	NANS	9	100843173	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		100843173	40370258	30	31420											
SEC16A	9919	broad.mit.edu	37	chr9	139370989	139370989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtctgcttctagcgggGcacagccagacccggcccca	12	16	2	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:139370989G>A	ENST00000313050.7	-	1	1152	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	SEC16A_ENST00000431893.2_Missense_Mutation_p.A182V|SEC16A_ENST00000371706.3_Missense_Mutation_p.A182V|SEC16A_ENST00000290037.6_Missense_Mutation_p.A182V	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	182					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTCTAGCGGGGCACAGCCAGA	0.607													False	0	True	9:139370989	0	A	139370989	G	A	139370989	3	1	116	1	0	0	0	0	1	0	0	0	14067	1203	42	2	6114	2	SEC16A	9	139370989	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	38527816	139370989	1842442	31	31421											
KCNMA1	3778	broad.mit.edu	37	chr10	78868281	78868281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcccccgtatttcttgCggtttcctattaactctatg	8	11	2	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:78868281C>T	ENST00000286627.5	-	9	2133	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	KCNMA1_ENST00000404857.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R394H|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R394H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R394H	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	394					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GTATTTCTTGCGGTTTCCTAT	0.468													False	0	False	10:78868281	0	T	78868281	C	T	78868281	3	4	116	1	0	0	0	0	1	0	0	0	8123	768	27	1	2781	1	KCNMA1	10	78868281	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08		78868281	56666466	32	31422											
HECTD2	143279	broad.mit.edu	37	chr10	93261004	93261004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaaaagaagttgctacAttttactacagggagtgaca	8	7	2	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:93261004A>G	ENST00000446394.1	+	21	2235	c.2135A>G	c.(2134-2136)cAt>cGt	p.H712R	HECTD2_ENST00000536715.1_Missense_Mutation_p.H297R|HECTD2_ENST00000298068.5_Missense_Mutation_p.H708R|HECTD2_ENST00000371667.1_Missense_Mutation_p.H358R	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	708	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AAGTTGCTACATTTTACTACA	0.353													False	0	True	10:93261004	0	G	93261004	A	G	93261004	3	3	116	1	0	0	0	0	1	0	0	0	7087	217	8	4	2225	4	HECTD2	10	93261004	Missense_Mutation	SNP	A	TCGA-IB-AAUS-01A-12D-A38G-08	14392723	93261004	42273743	33	31423											
MICAL2	9645	broad.mit.edu	37	chr11	12231128	12231128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcattggtgccgatggccGcaggaacaccctggaaggtg	14	11	1	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:12231128G>A	ENST00000256194.4	+	6	962	c.674G>A	c.(673-675)cGc>cAc	p.R225H	MICAL2_ENST00000379612.3_Missense_Mutation_p.R225H|MICAL2_ENST00000342902.5_Missense_Mutation_p.R225H|MICAL2_ENST00000537344.1_Missense_Mutation_p.R225H|MICAL2_ENST00000527546.1_Missense_Mutation_p.R225H	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	225						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCCGATGGCCGCAGGAACACC	0.527													False	0	False	11:12231128	0	A	12231128	G	A	12231128	3	1	116	1	0	0	0	0	1	0	0	0	9637	1087	38	1	688	1	MICAL2	11	12231128	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		12231128	122775388	34	31424											
TTC17	55761	broad.mit.edu	37	chr11	43419628	43419628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcatgctgtcctatgtcaGcaaaaactggagcagaaatt	9	8	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:43419628G>A	ENST00000039989.4	+	8	1037	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q	TTC17_ENST00000299240.6_Silent_p.Q341Q|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	341							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCCTATGTCAGCAAAAACTGG	0.438													False	0	False	11:43419628	0	A	43419628	G	A	43419628	2	1	116	1	0	0	0	0	0	0	0	1	16768	962	34	2		2	TTC17	11	43419628	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	31188500	43419628	91586888	35	31425											
CRY2	1408	broad.mit.edu	37	chr11	45891310	45891310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacctggcccggcatgCcgtggcctgcttcctgaccc	10	20	0	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:45891310C>T	ENST00000443527.2	+	7	1221	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V	CRY2_ENST00000417225.2_Missense_Mutation_p.A318V	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	379	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	p.A379V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCCCGGCATGCCGTGGCCTGC	0.642													False	0	False	11:45891310	0	T	45891310	C	T	45891310	3	4	116	1	0	0	0	0	1	0	0	0	3927	739	26	2	1261	2	CRY2	11	45891310	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	2471682	45891310	89115206	36	31426											
FOLH1	2346	broad.mit.edu	37	chr11	49186293	49186293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccaagctgtacatcagCggtgtacaatcaactctcag	8	11	3	0	rs141224157	by1000genomes	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:49186293C>T	ENST00000340334.7	-	14	1727	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Silent_p.P468P|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000533034.1_Silent_p.P453P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	468	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGTACATCAGCGGTGTACAAT	0.284													False	0	False	11:49186293	0	T	49186293	C	T	49186293	2	4	116	1	0	0	0	0	0	0	0	1	6019	755	27	1		1	FOLH1	11	49186293	Silent	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	3294983	49186293	85820223	37	31427											
SLCO1B3	28234	broad.mit.edu	37	chr12	21069042	21069043	+	Frame_Shift_Ins	INS	-	-	G													tttcaaggaaaagataccaaINSggcatcggacaatgaaagaa							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:21069042_21069043insG	ENST00000381545.3	+	16	2189_2190	c.1970_1971insG	c.(1969-1974)aaggcafs	p.A658fs	SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Ins_p.A658fs|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	658					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AAAGATACCAAGGCATCGGACA	0.317													False	2	False	12:21069042	0	G	21069043	-	G	21069042	7	5	116	1	0	1	1	0	0	0	0	0	14804	72	3	0	2024	0	SLCO1B3	12	21069042	Frame_Shift_Ins	INS	-	TCGA-IB-AAUS-01A-12D-A38G-08		21069042	112782853	38	31428											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	116	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	4329242	25398284	108453611	39	31429											
TSPAN8	7103	broad.mit.edu	37	chr12	71519132	71519132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcatttgttcccgatctgGcaatacaggaccatagaaaa	7	9	2	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:71519132G>A	ENST00000393330.2	-	12	1248	c.696C>T	c.(694-696)tgC>tgT	p.C232C	TSPAN8_ENST00000546561.1_Silent_p.C232C|TSPAN8_ENST00000552128.1_Silent_p.C149C|TSPAN8_ENST00000247829.3_Silent_p.C232C			P19075	TSN8_HUMAN	tetraspanin 8	232					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TCCCGATCTGGCAATACAGGA	0.353													False	0	False	12:71519132	0	A	71519132	G	A	71519132	2	1	116	1	0	0	0	0	0	0	0	1	16736	1195	42	2		2	TSPAN8	12	71519132	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	46120848	71519132	62332763	40	31430											
TGM1	7051	broad.mit.edu	37	chr14	24724342	24724342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagatcctgccccatcaccGcgtcctgtgcctccacctgc	7	20	2	1	rs143322085		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:24724342G>A	ENST00000206765.6	-	12	1886	c.1763C>T	c.(1762-1764)gCg>gTg	p.A588V	TGM1_ENST00000544573.1_Missense_Mutation_p.A146V	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	588					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCCCATCACCGCGTCCTGTGC	0.577													False	0	False	14:24724342	0	A	24724342	G	A	24724342	3	1	116	1	0	0	0	0	1	0	0	0	15911	1087	38	1	706	1	TGM1	14	24724342	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		24724342	82625198	41	31431											
ARHGAP5	394	broad.mit.edu	37	chr14	32559928	32559928	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcctataccatcagtatagTtggactctctgggactgaaa	8	9	2	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:32559928T>A	ENST00000345122.3	+	2	368	c.53T>A	c.(52-54)gTt>gAt	p.V18D	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V18D|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V18D|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V18D	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	18					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCAGTATAGTTGGACTCTCT	0.393													False	0	False	14:32559928	0	A	32559928	T	A	32559928	3	1	116	1	0	0	0	0	1	0	0	0	888	1725	60	5	55	5	ARHGAP5	14	32559928	Missense_Mutation	SNP	T	TCGA-IB-AAUS-01A-12D-A38G-08	7835586	32559928	74789612	42	31432											
GPHB5	122876	broad.mit.edu	37	chr14	63784429	63784429	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcagcctggcttcttGgccaggaaagtaaactccct	9	15	1	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:63784429G>A	ENST00000539258.1	-	0	191							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CTGGCTTCTTGGCCAGGAAAG	0.607													False	0	False	14:63784429	0	A	63784429	G	A	63784429	1	1	116	0	1	0	0	0	0	0	0	0	6655	1335	47	2		2	GPHB5	14	63784429	RNA	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	31224501	63784429	43565111	43	31433											
ARHGAP17	55114	broad.mit.edu	37	chr16	24971282	24971282	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggccataaagttgtacaTgtctgctgcaagttgatcct	9	8	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:24971282T>G	ENST00000289968.6	-	8	661	c.592A>C	c.(592-594)Atg>Ctg	p.M198L	ARHGAP17_ENST00000441763.2_Missense_Mutation_p.M198L|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.M198L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	198	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AAGTTGTACATGTCTGCTGCA	0.383													False	0	False	16:24971282	0	G	24971282	T	G	24971282	3	3	116	1	0	0	0	0	1	0	0	0	869	1464	51	4	2105	4	ARHGAP17	16	24971282	Missense_Mutation	SNP	T	TCGA-IB-AAUS-01A-12D-A38G-08		24971282	65383471	44	31434											
SLC38A8	146167	broad.mit.edu	37	chr16	84050178	84050178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgatgatgctgacgatctCgctgaggtcaggcataaaca	11	10	2	3	rs149742482	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:84050178C>T	ENST00000299709.3	-	8	1107	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	370					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGACGATCTCGCTGAGGTCA	0.607													False	0	False	16:84050178	0	T	84050178	C	T	84050178	3	4	116	1	0	0	0	0	1	0	0	0	14690	893	31	1	211	1	SLC38A8	16	84050178	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	59078896	84050178	6304575	45	31435											
TP53	7157	broad.mit.edu	37	chr17	7579533	7579533	+	Frame_Shift_Del	DEL	G	G	-													tgggtcttcagtgaaccattGttcaatatcgtccggggaca							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:7579533delG	ENST00000420246.2	-	4	286	c.154delC	c.(154-156)caafs	p.Q52fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.Q52fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.Q52fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.Q52fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.Q52fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.Q52fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	52	Interaction with HRMT1L2.		Q -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q52*(12)|p.0?(8)|p.Q52>P*(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGAACCATTGTTCAATATCG	0.592		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)			False	1	False	17:7579533	0	-	7579533	G	-	7579533	7	5	116	1	0	1	0	1	0	0	0	0	16464	1386	48	0	1148	0	TP53	17	7579533	Frame_Shift_Del	DEL	G	TCGA-IB-AAUS-01A-12D-A38G-08		7579533	73615677	46	31436											
MAP2K4	6416	broad.mit.edu	37	chr17	12043158	12043158	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttatgttattttagccTtacgaaggatgaatccaaaa	6	5	0	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:12043158T>G	ENST00000415385.3	+	11	1129	c.1076T>G	c.(1075-1077)cTt>cGt	p.L359R	MAP2K4_ENST00000353533.5_Missense_Mutation_p.L348R	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	348	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(2)|p.L348R(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TATTTTAGCCTTACGAAGGAT	0.333			"D, Mis, N"		"pancreatic, breast, colorectal"								False	0	False	17:12043158	0	G	12043158	T	G	12043158	3	3	116	1	0	0	0	0	1	0	0	0	9306	1609	56	4	1081	4	MAP2K4	17	12043158	Missense_Mutation	SNP	T	TCGA-IB-AAUS-01A-12D-A38G-08	4463625	12043158	69152052	47	31437											
MED1	5469	broad.mit.edu	37	chr17	37580067	37580068	+	Frame_Shift_Ins	INS	-	-	TCTAGTACTTGTT													ctggtgattgaggagaaggaINSaggggtccttcaaaaaaaag							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:37580067_37580068insTCTAGTACTTGTT	ENST00000394287.3	-	12	1063_1064	c.858_859insAACAAGTACTAGA	c.(856-861)ccttccfs	p.S287fs	MED1_ENST00000300651.6_Frame_Shift_Ins_p.S287fs			Q15648	MED1_HUMAN	mediator complex subunit 1	287	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAGGAGAAGGAAGGGGTCCTTC	0.401										HNSCC(31;0.082)			False	0	True	17:37580067	0	TCTAGTACTTGTT	37580068	-	TCTAGTACTTGTT	37580067	7	5	116	1	0	1	1	0	0	0	0	0	9492	246	9	0	3910	0	MED1	17	37580067	Frame_Shift_Ins	INS	-	TCGA-IB-AAUS-01A-12D-A38G-08	25536909	37580067	43615143	48	31438											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240781	39240781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtgtgctgccagcccaCctgctgccgccccagctgct	11	18	1	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:39240781C>A	ENST00000391417.4	+	1	323	c.323C>A	c.(322-324)aCc>aAc	p.T108N		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						tgccagcccacctgctgccgc	0.662													False	0	False	17:39240781	0	A	39240781	C	A	39240781	3	1	116	1	0	0	0	0	1	0	0	0	8606	507	18	3	325	3	KRTAP4-7	17	39240781	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	1660714	39240781	41954429	49	31439											
PTPRS	5802	broad.mit.edu	37	chr19	5210482	5210482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtctcttcactcacccGggcatctgtgaccttgaact	8	14	5	2	rs147647579		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:5210482G>A	ENST00000372412.4	-	35	5721	c.5488C>T	c.(5488-5490)Cgg>Tgg	p.R1830W	PTPRS_ENST00000348075.2_Missense_Mutation_p.R1791W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1829W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1809W|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1791W|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1829W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1382W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1382W			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1829	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCACTCACCCGGGCATCTGTG	0.562													False	0	True	19:5210482	0	A	5210482	G	A	5210482	3	1	116	1	0	0	0	0	1	0	0	0	12890	1115	39	1	377	1	PTPRS	19	5210482	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		5210482	53918501	50	31440											
VAV1	7409	broad.mit.edu	37	chr19	6857088	6857088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggttccctgccaactaCgtggaggaagattattctga	12	9	1	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:6857088C>T	ENST00000304076.2	+	26	2536	c.2442C>T	c.(2440-2442)taC>taT	p.Y814Y	VAV1_ENST00000599806.1_Silent_p.Y781Y|VAV1_ENST00000602142.1_Silent_p.Y836Y|VAV1_ENST00000539284.1_Silent_p.Y739Y|VAV1_ENST00000596764.1_Silent_p.Y804Y	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	836	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTGCCAACTACGTGGAGGAAG	0.592													False	0	False	19:6857088	0	T	6857088	C	T	6857088	2	4	116	1	0	0	0	0	0	0	0	1	17215	547	19	1		1	VAV1	19	6857088	Silent	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	1646606	6857088	52271895	51	31441											
C19orf45	374877	broad.mit.edu	37	chr19	7570440	7570440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgatcagactccggagtcGcacatcctgaaaggaaattg	10	11	1	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:7570440G>A	ENST00000361664.2	+	6	1074	c.933G>A	c.(931-933)tcG>tcA	p.S311S		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	311										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CTCCGGAGTCGCACATCCTGA	0.622													False	0	False	19:7570440	0	A	7570440	G	A	7570440	2	1	116	1	0	0	0	0	0	0	0	1	1943	1074	38	1		1	C19orf45	19	7570440	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	713352	7570440	51558543	52	31442											
CACNA1A	773	broad.mit.edu	37	chr19	13338336	13338336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgtccaggtaaggcatgCggcccctggcagcaccgaaa	12	13	0	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:13338336C>T	ENST00000360228.5	-	37	5533	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CACNA1A_ENST00000573710.2_Intron	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1846					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTAAGGCATGCGGCCCCTGGC	0.493													False	0	False	19:13338336	0	T	13338336	C	T	13338336	3	4	116	1	0	0	0	0	1	0	0	0	2558	768	27	1	2030	1	CACNA1A	19	13338336	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	5767896	13338336	45790647	53	31443											
NOTCH3	4854	broad.mit.edu	37	chr19	15297738	15297738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcggttgatgccatcacgGcagactccaaaggtgcaggg	14	10	1	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:15297738G>A	ENST00000263388.2	-	12	1977	c.1902C>T	c.(1900-1902)tgC>tgT	p.C634C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	634	EGF-like 16; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCCATCACGGCAGACTCCAA	0.577													False	0	False	19:15297738	0	A	15297738	G	A	15297738	2	1	116	1	0	0	0	0	0	0	0	1	10618	1195	42	2		2	NOTCH3	19	15297738	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	1959402	15297738	43831245	54	31444											
MAVS	57506	broad.mit.edu	37	chr20	3844906	3844906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttttccaccggcaggtgCgacctccagcctcacaccat	8	16	1	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr20:3844906C>T	ENST00000428216.2	+	6	757	c.629C>T	c.(628-630)gCg>gTg	p.A210V	MAVS_ENST00000416600.2_Missense_Mutation_p.A69V|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	210					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCGGCAGGTGCGACCTCCAGC	0.617													False	0	False	20:3844906	0	T	3844906	C	T	3844906	3	4	116	1	0	0	0	0	1	0	0	0	9405	768	27	1	647	1	MAVS	20	3844906	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08		3844906	59180614	55	31445											
PLCB4	5332	broad.mit.edu	37	chr20	9317832	9317832	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgagtttggcttctttctGacatggagaagtgaaggcaa	13	5	2	4			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr20:9317832G>A	ENST00000378501.2	+	2	159	c.144G>A	c.(142-144)ctG>ctA	p.L48L	PLCB4_ENST00000378493.1_Silent_p.L48L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.L48L|PLCB4_ENST00000334005.3_Silent_p.L48L|PLCB4_ENST00000414679.2_Silent_p.L48L|PLCB4_ENST00000378473.3_Silent_p.L48L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	48					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCTTCTTTCTGACATGGAGAA	0.418													False	0	True	20:9317832	0	A	9317832	G	A	9317832	2	1	116	1	0	0	0	0	0	0	0	1	12099	1277	45	2		2	PLCB4	20	9317832	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	5472926	9317832	53707688	56	31446											
OSBP2	23762	broad.mit.edu	37	chr22	31285529	31285529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcatccaaagtcaagaggcGagtccgcattcccaacaagc	8	13	2	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:31285529G>A	ENST00000332585.6	+	7	1633	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000535268.1_Missense_Mutation_p.R54Q|OSBP2_ENST00000403222.3_Missense_Mutation_p.R344Q|OSBP2_ENST00000446658.2_Missense_Mutation_p.R509Q|OSBP2_ENST00000401475.1_Missense_Mutation_p.R143Q|OSBP2_ENST00000407373.1_Missense_Mutation_p.R337Q|OSBP2_ENST00000437268.2_Missense_Mutation_p.R252Q	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	510					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTCAAGAGGCGAGTCCGCATT	0.597													False	0	False	22:31285529	0	A	31285529	G	A	31285529	3	1	116	1	0	0	0	0	1	0	0	0	11342	1058	37	1	1555	1	OSBP2	22	31285529	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		31285529	20019037	57	31447											
NHP2L1	4809	broad.mit.edu	37	chr22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagggcctgcttggagcGcacaaacacgtagggcacat	12	14	0	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000463675.1_5'UTR	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577													False	0	False	22:42071074	0	A	42071074	G	A	42071074	3	1	116	1	0	0	0	0	1	0	0	0	10478	1087	38	1	140	1	NHP2L1	22	42071074	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	10785545	42071074	9233492	58	31448											
CRLF2	64109	broad.mit.edu	37	chrX	1325350	1325350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaaccatccagcgacttgCggtgaaaacggggtgcgtcc	12	11	0	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:1325350C>T	ENST00000381567.3	-	3	324	c.325G>A	c.(325-327)Gca>Aca	p.A109T	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.A109T	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	109						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAGCGACTTGCGGTGAAAACG	0.493			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								False	0	False	X:1325350	0	T	1325350	C	T	1325350	3	4	116	1	0	0	0	0	1	0	0	0	3910	768	27	1	464	1	CRLF2	23	1325350	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08		1325350	153945210	59	31449											
BCOR	54880	broad.mit.edu	37	chrX	39934135	39934135	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctacagcacttttttgtAttccaggcggtgttttgtat	10	7	0	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:39934135A>G	ENST00000342274.4	-	4	826	c.464T>C	c.(463-465)aTa>aCa	p.I155T	BCOR_ENST00000378455.4_Missense_Mutation_p.I155T|BCOR_ENST00000378444.4_Missense_Mutation_p.I155T|BCOR_ENST00000397354.3_Missense_Mutation_p.I155T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	155					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACTTTTTTGTATTCCAGGCGG	0.517			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						False	0	False	X:39934135	0	G	39934135	A	G	39934135	3	3	116	1	0	0	0	0	1	0	0	0	1390	449	16	4	4851	4	BCOR	23	39934135	Missense_Mutation	SNP	A	TCGA-IB-AAUS-01A-12D-A38G-08	38608785	39934135	115336425	60	31450											
CLCN6	1185	broad.mit.edu	37	chr1	11883815	11883815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatgctatctgaatggcGtaaaggtgccaggaatcgtc	11	8	2	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr1:11883815G>A	ENST00000346436.6	+	7	557	c.505G>A	c.(505-507)Gta>Ata	p.V169I	CLCN6_ENST00000376487.3_Missense_Mutation_p.V147I|CLCN6_ENST00000376496.3_Missense_Mutation_p.V169I|CLCN6_ENST00000312413.6_Missense_Mutation_p.V169I|CLCN6_ENST00000376492.3_3'UTR	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	169					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGAATGGCGTAAAGGTGCC	0.552													False	0	False	1:11883815	0	A	11883815	G	A	11883815	3	1	117	1	0	0	0	0	1	0	0	0	3490	1145	40	1	531	1	CLCN6	1	11883815	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08		11883815	237366806	1	31451											
EPB41	2035	broad.mit.edu	37	chr1	29365900	29365900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgccccacacttcgagcGtacagcaagtaaacgggcgt	11	14	0	0			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr1:29365900G>A	ENST00000343067.4	+	11	1725	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H	EPB41_ENST00000398863.2_Missense_Mutation_p.R533H|EPB41_ENST00000373797.1_Missense_Mutation_p.R533H|EPB41_ENST00000373798.1_Missense_Mutation_p.R533H|EPB41_ENST00000373800.3_Missense_Mutation_p.R324H|EPB41_ENST00000356093.2_Missense_Mutation_p.R533H|EPB41_ENST00000349460.4_Missense_Mutation_p.R324H|EPB41_ENST00000347529.3_Missense_Mutation_p.R498H	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	533	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CACTTCGAGCGTACAGCAAGT	0.463													False	0	False	1:29365900	0	A	29365900	G	A	29365900	3	1	117	1	0	0	0	0	1	0	0	0	5183	1145	40	1	1636	1	EPB41	1	29365900	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	17482085	29365900	219884721	2	31452											
USH2A	7399	broad.mit.edu	37	chr1	216011345	216011345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtaccttgaagtgatgCcacgaattgtgggtgttggt	13	5	0	2			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr1:216011345C>T	ENST00000366943.2	-	47	9745	c.9359G>A	c.(9358-9360)gGc>gAc	p.G3120D	USH2A_ENST00000307340.3_Missense_Mutation_p.G3120D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3120	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAAGTGATGCCACGAATTGT	0.388										HNSCC(13;0.011)			False	0	False	1:216011345	0	T	216011345	C	T	216011345	3	4	117	1	0	0	0	0	1	0	0	0	17120	739	26	2	6353	2	USH2A	1	216011345	Missense_Mutation	SNP	C	TCGA-IB-AAUT-01A-11D-A377-08	186645445	216011345	33239276	3	31453											
ZNF513	130557	broad.mit.edu	37	chr2	27600645	27600645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttctcgcctgtgtgccGcagcatgtgacgtttgaggt	15	10	1	2			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:27600645G>A	ENST00000323703.6	-	4	1591	c.1393C>T	c.(1393-1395)Cgg>Tgg	p.R465W	ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Missense_Mutation_p.R403W	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	465					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTGTGCCGCAGCATGTGA	0.582													False	0	False	2:27600645	0	A	27600645	G	A	27600645	3	1	117	1	0	0	0	0	1	0	0	0	18041	1086	38	1	236	1	ZNF513	2	27600645	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08		27600645	215598728	4	31454											
OTX1	5013	broad.mit.edu	37	chr2	63280157	63280157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaaacaacccccatacgGcatgaacgggctgggcctgg	11	15	1	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:63280157G>A	ENST00000366671.3	+	3	308	c.32G>A	c.(31-33)gGc>gAc	p.G11D	OTX1_ENST00000282549.2_Missense_Mutation_p.G11D	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	11						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCCCCATACGGCATGAACGGG	0.697													False	0	False	2:63280157	0	A	63280157	G	A	63280157	3	1	117	1	0	0	0	0	1	0	0	0	11388	1203	42	2	34	2	OTX1	2	63280157	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	35679512	63280157	179919216	5	31455											
ANAPC1	64682	broad.mit.edu	37	chr2	112625621	112625621	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tccagatttacaaacaagtgGagttatttcatctagtgggt	9	6	2	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:112625621G>C	ENST00000341068.3	-	7	1436	c.664C>G	c.(664-666)Cca>Gca	p.P222A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	222					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.P222A(3)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CAAACAAGTGGAGTTATTTCA	0.328													False	0	False	2:112625621	0	C	112625621	G	C	112625621	3	2	117	1	0	0	0	0	1	0	0	0	598	1174	41	5	5338	5	ANAPC1	2	112625621	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	49345464	112625621	130573752	6	31456											
CNTNAP5	129684	broad.mit.edu	37	chr2	125192174	125192175	+	Frame_Shift_Ins	INS	-	-	CGGGAAAGAAAAATTAGTGCATATTCTC													gttcaagagcatgcaaggagINSatggggtcctgttccatgga							TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:125192174_125192175insCGGGAAAGAAAAATTAGTGCATATTCTC	ENST00000431078.1	+	5	1007_1008	c.643_644insCGGGAAAGAAAAATTAGTGCATATTCTC	c.(643-645)gatfs	p.D215fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	215	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATGCAAGGAGATGGGGTCCTG	0.505													False	0	False	2:125192174	0	CGGGAAAGAAAAATTAGTGCATATTCTC	125192175	-	CGGGAAAGAAAAATTAGTGCATATTCTC	125192174	7	5	117	1	0	1	1	0	0	0	0	0	3673	942	33	0	661	0	CNTNAP5	2	125192174	Frame_Shift_Ins	INS	-	TCGA-IB-AAUT-01A-11D-A377-08	12566553	125192174	118007199	7	31457											
TTN	7273	broad.mit.edu	37	chr2	179414500	179414500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtagtgggttatgggaGcacaaccgtcattgagtggg	16	5	1	2			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:179414500G>A	ENST00000589042.1	-	338	92173	c.91949C>T	c.(91948-91950)gCt>gTt	p.A30650V	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A29009V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21710V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28082V|TTN_ENST00000460472.2_Missense_Mutation_p.A21585V|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21777V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29009	Fibronectin type-III 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTATGGGAGCACAACCGTC	0.448													False	0	False	2:179414500	0	A	179414500	G	A	179414500	3	1	117	1	0	0	0	0	1	0	0	0	16819	971	34	2	16130	2	TTN	2	179414500	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	54222326	179414500	63784873	8	31458											
FASTKD2	22868	broad.mit.edu	37	chr2	207631976	207631976	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagtagcaactatttcacaGcaatgtggacaattgccaaa	7	9	1	0			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:207631976G>A	ENST00000236980.6	+	2	907	c.559G>A	c.(559-561)Gca>Aca	p.A187T	FASTKD2_ENST00000403094.3_Missense_Mutation_p.A187T|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A187T	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	187					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTATTTCACAGCAATGTGGAC	0.408													False	0	False	2:207631976	0	A	207631976	G	A	207631976	3	1	117	1	0	0	0	0	1	0	0	0	5726	971	34	2	561	2	FASTKD2	2	207631976	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	28217476	207631976	35567397	9	31459											
TACC3	10460	broad.mit.edu	37	chr4	1725247	1725247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaagttaccggaagatcGtctgttcttcgtgtgtcaca	10	10	3	2	rs142473170		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:1725247G>A	ENST00000313288.4	+	2	205	c.99G>A	c.(97-99)tcG>tcA	p.S33S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	33						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CCGGAAGATCGTCTGTTCTTC	0.448													False	0	False	4:1725247	0	A	1725247	G	A	1725247	2	1	117	1	0	0	0	0	0	0	0	1	15585	1132	40	1		1	TACC3	4	1725247	Silent	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08		1725247	189429029	10	31460											
RHOH	399	broad.mit.edu	37	chr4	40245187	40245187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctctgggacacagccGgcaatgacgccttcagaagc	13	13	2	2			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:40245187G>A	ENST00000381799.4	+	3	905	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	RHOH_ENST00000505618.1_Missense_Mutation_p.G61S	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	61					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GGACACAGCCGGCAATGACGC	0.582													False	0	False	4:40245187	0	A	40245187	G	A	40245187	3	1	117	1	0	0	0	0	1	0	0	0	13419	1116	39	1	183	1	RHOH	4	40245187	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	38519940	40245187	150909089	11	31461											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68688126	68688126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacactcctggcttatccgGcaggccacactgatctcccc	7	17	1	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:68688126G>A	ENST00000283916.6	-	10	1284	c.1186C>T	c.(1186-1188)Ccg>Tcg	p.P396S	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.P279S	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	396	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCTTATCCGGCAGGCCACAC	0.502													False	0	False	4:68688126	0	A	68688126	G	A	68688126	3	1	117	1	0	0	0	0	1	0	0	0	16323	1203	42	2	74	2	TMPRSS11D	4	68688126	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	28442939	68688126	122466150	12	31462											
SEC24B	10427	broad.mit.edu	37	chr4	110447472	110447472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcctgatgctggatttgCggtgcagttgtcaattgaag	12	7	1	2			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:110447472C>T	ENST00000265175.5	+	17	2937	c.2882C>T	c.(2881-2883)gCg>gTg	p.A961V	SEC24B_ENST00000399100.2_Missense_Mutation_p.A926V|SEC24B_ENST00000504968.2_Missense_Mutation_p.A991V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	961					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GCTGGATTTGCGGTGCAGTTG	0.363													False	0	False	4:110447472	0	T	110447472	C	T	110447472	3	4	117	1	0	0	0	0	1	0	0	0	14076	768	27	1	2948	1	SEC24B	4	110447472	Missense_Mutation	SNP	C	TCGA-IB-AAUT-01A-11D-A377-08	41759346	110447472	80706804	13	31463											
ADAMTS19	171019	broad.mit.edu	37	chr5	128983576	128983576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggatcagcagtcgagagcGcaaatgtcctgggtaaactc	13	9	1	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr5:128983576G>A	ENST00000274487.4	+	12	2118	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	658	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGTCGAGAGCGCAAATGTCCT	0.507													False	0	False	5:128983576	0	A	128983576	G	A	128983576	3	1	117	1	0	0	0	0	1	0	0	0	264	1087	38	1	2019	1	ADAMTS19	5	128983576	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08		128983576	51931684	14	31464											
PCDHA3	0	broad.mit.edu	37	chr5	140181599	140181599	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgatttggatgaaggaGtaaataaggatatcgcgtat	11	6	0	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr5:140181599G>C	ENST00000522353.2	+	1	817	c.817G>C	c.(817-819)Gta>Cta	p.V273L	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V273L|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGAAGGAGTAAATAAGGA	0.418													False	0	False	5:140181599	0	C	140181599	G	C	140181599	3	2	117	1	0	0	0	0	1	0	0	0	11593	1029	36	5	819	5	PCDHA3	5	140181599	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	11198023	140181599	40733661	15	31465											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	117	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-AAUT-01A-11D-A377-08		7393450	163721617	16	31466											
RBM28	55131	broad.mit.edu	37	chr7	127964701	127964701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctcatcacgggtcaccGccaagtcaaccttgagctgc	9	16	4	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr7:127964701G>A	ENST00000223073.1	-	12	1364	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	RBM28_ENST00000415472.2_Missense_Mutation_p.A276V	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	417	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACGGGTCACCGCCAAGTCAAC	0.552													False	0	False	7:127964701	0	A	127964701	G	A	127964701	3	1	117	1	0	0	0	0	1	0	0	0	13207	1087	38	1	1061	1	RBM28	7	127964701	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08		127964701	31173962	17	31467											
TMEM215	401498	broad.mit.edu	37	chr9	32784414	32784414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgagctgctgtgggtccGcaaattgccctgcttccgga	13	12	0	0			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr9:32784414G>A	ENST00000342743.5	+	2	598	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	78						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTGTGGGTCCGCAAATTGCCC	0.597													False	0	False	9:32784414	0	A	32784414	G	A	32784414	3	1	117	1	0	0	0	0	1	0	0	0	16220	1087	38	1	235	1	TMEM215	9	32784414	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08		32784414	108429017	18	31468											
CCIN	881	broad.mit.edu	37	chr9	36170278	36170278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagagtgtcctgatggaccGcaagcaggagcggccatgca	15	10	0	2	rs146585082	byFrequency	TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr9:36170278G>A	ENST00000335119.2	+	1	890	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	260					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.R260H(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CTGATGGACCGCAAGCAGGAG	0.592													False	0	False	9:36170278	0	A	36170278	G	A	36170278	3	1	117	1	0	0	0	0	1	0	0	0	2899	1087	38	1	781	1	CCIN	9	36170278	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	3385864	36170278	105043153	19	31469											
RC3H2	54542	broad.mit.edu	37	chr9	125621318	125621319	+	Frame_Shift_Ins	INS	-	-	AGTTCCTCCAGTACCT													ctctggaacgttattggaccINStcacaaagcgaggaacacag							TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr9:125621318_125621319insAGTTCCTCCAGTACCT	ENST00000373670.1	-	11	2512_2513	c.1912_1913insAGGTACTGGAGGAACT	c.(1912-1914)aggfs	p.R638fs	RC3H2_ENST00000357244.2_Frame_Shift_Ins_p.R638fs|RC3H2_ENST00000423239.2_Frame_Shift_Ins_p.R638fs			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	638	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GTTATTGGACCTCACAAAGCGA	0.46													False	0	False	9:125621318	0	AGTTCCTCCAGTACCT	125621319	-	AGTTCCTCCAGTACCT	125621318	7	5	117	1	0	1	1	0	0	0	0	0	13246	681	24	0	1780	0	RC3H2	9	125621318	Frame_Shift_Ins	INS	-	TCGA-IB-AAUT-01A-11D-A377-08	89451040	125621318	15592113	20	31470											
ANK3	288	broad.mit.edu	37	chr10	61868601	61868601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttaccctaaaaattgtgCccctgcaggacccatttcta	5	13	1	0			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr10:61868601C>T	ENST00000280772.1	-	27	3351	c.3160G>A	c.(3160-3162)Gca>Aca	p.A1054T	ANK3_ENST00000373827.2_Missense_Mutation_p.A1048T|ANK3_ENST00000355288.2_Missense_Mutation_p.A188T|ANK3_ENST00000503366.1_Missense_Mutation_p.A1055T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1054	ZU5.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAAAATTGTGCCCCTGCAGGA	0.453													False	0	True	10:61868601	0	T	61868601	C	T	61868601	3	4	117	1	0	0	0	0	1	0	0	0	622	739	26	2	10354	2	ANK3	10	61868601	Missense_Mutation	SNP	C	TCGA-IB-AAUT-01A-11D-A377-08		61868601	73666146	21	31471											
GRID1	2894	broad.mit.edu	37	chr10	87487669	87487669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttatggagctggtgaccGtacctgccatcaggggcttg	15	9	1	1	rs149876378		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr10:87487669G>A	ENST00000327946.7	-	10	1561	c.1476C>T	c.(1474-1476)taC>taT	p.Y492Y	GRID1_ENST00000536331.1_Silent_p.Y63Y	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	492						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.Y492Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCTGGTGACCGTACCTGCCAT	0.557										Multiple Myeloma(13;0.14)			False	0	False	10:87487669	0	A	87487669	G	A	87487669	2	1	117	1	0	0	0	0	0	0	0	1	6818	1140	40	1		1	GRID1	10	87487669	Silent	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	25619068	87487669	48047078	22	31472											
SEC31B	25956	broad.mit.edu	37	chr10	102257434	102257434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacacttaccacagagctcGggaaatttctctgtgcctga	8	13	1	2			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr10:102257434G>A	ENST00000370345.3	-	16	2077	c.1980C>T	c.(1978-1980)ccC>ccT	p.P660P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	660					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.P660P(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CACAGAGCTCGGGAAATTTCT	0.512													False	0	True	10:102257434	0	A	102257434	G	A	102257434	2	1	117	1	0	0	0	0	0	0	0	1	14080	1103	39	1		1	SEC31B	10	102257434	Silent	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	14769765	102257434	33277313	23	31473											
DDX10	1662	broad.mit.edu	37	chr11	108546412	108546412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagatgtacttggagcgGccaaaactggatctggcaag	13	7	1	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr11:108546412G>A	ENST00000526794.1	+	3	369	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	DDX10_ENST00000322536.3_Missense_Mutation_p.A113T			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	113	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.A113T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ACTTGGAGCGGCCAAAACTGG	0.438			T	NUP98	AML*								False	0	False	11:108546412	0	A	108546412	G	A	108546412	3	1	117	1	0	0	0	0	1	0	0	0	4367	1203	42	2	347	2	DDX10	11	108546412	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08		108546412	26460104	24	31474											
PPP2R1B	5519	broad.mit.edu	37	chr11	111614250	111614250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcagcttctcggatggcGtatactgcagaagaggtcaa	14	8	2	2			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr11:111614250G>A	ENST00000527614.1	-	12	1469	c.1404C>T	c.(1402-1404)taC>taT	p.Y468Y	PPP2R1B_ENST00000393055.2_Silent_p.Y341Y|PPP2R1B_ENST00000341980.6_Silent_p.Y423Y|PPP2R1B_ENST00000427203.2_Silent_p.Y307Y|PPP2R1B_ENST00000311129.5_Silent_p.Y468Y|PPP2R1B_ENST00000426998.2_Silent_p.Y404Y	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	468							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTCGGATGGCGTATACTGCAG	0.388													False	0	False	11:111614250	0	A	111614250	G	A	111614250	2	1	117	1	0	0	0	0	0	0	0	1	12457	1140	40	1		1	PPP2R1B	11	111614250	Silent	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	3067838	111614250	23392266	25	31475											
ABCG4	64137	broad.mit.edu	37	chr11	119020905	119020905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggaggggccctgctggcGcaaaaggggtagggaacagc	20	9	0	0			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr11:119020905G>A	ENST00000307417.3	+	2	594	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ABCG4_ENST00000449422.2_Missense_Mutation_p.R77H|ABCG4_ENST00000531739.1_Missense_Mutation_p.R77H	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	77	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCTGCTGGCGCAAAAGGGGT	0.622													False	0	False	11:119020905	0	A	119020905	G	A	119020905	3	1	117	1	0	0	0	0	1	0	0	0	70	1087	38	1	232	1	ABCG4	11	119020905	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	7406655	119020905	15985611	26	31476											
CHD4	1108	broad.mit.edu	37	chr12	6710455	6710455	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatttgaaccccatttcacCtttgccctccttggtcttgg	6	15	2	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:6710455C>T	ENST00000309577.6	-	6	962	c.799_splice	c.e6+1	p.G267_splice	CHD4_ENST00000544040.1_Splice_Site_p.G260_splice|CHD4_ENST00000357008.2_Splice_Site_p.G267_splice|CHD4_ENST00000544484.1_Splice_Site_p.G264_splice			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	267					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCCATTTCACCTTTGCCCTCC	0.557													False	0	True	12:6710455	0	T	6710455	C	T	6710455	5	4	117	1	0	0	0	0	0	0	1	0	3350	695	24	2	5079	2	CHD4	12	6710455	Splice_Site	SNP	C	TCGA-IB-AAUT-01A-11D-A377-08		6710455	127141440	27	31477											
TMEM106C	79022	broad.mit.edu	37	chr12	48359115	48359115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacagtgatcagagattgCgccctcagcgaacgtgagtt	11	11	2	3	rs146483924		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:48359115C>T	ENST00000429772.2	+	3	351	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	TMEM106C_ENST00000256686.6_Missense_Mutation_p.R80C|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000552561.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000550552.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000449758.2_Missense_Mutation_p.R80C|TMEM106C_ENST00000549288.1_Intron	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	80						endoplasmic reticulum membrane|integral to membrane		p.R80C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TCAGAGATTGCGCCCTCAGCG	0.408													False	0	False	12:48359115	0	T	48359115	C	T	48359115	3	4	117	1	0	0	0	0	1	0	0	0	16104	768	27	1	244	1	TMEM106C	12	48359115	Missense_Mutation	SNP	C	TCGA-IB-AAUT-01A-11D-A377-08	41648660	48359115	85492780	28	31478											
SLC17A8	246213	broad.mit.edu	37	chr12	100795569	100795569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaggttcctatgcagggGcagtggttgccatgcccctg	13	12	0	0			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:100795569G>A	ENST00000323346.5	+	6	1004	c.691G>A	c.(691-693)Gca>Aca	p.A231T	SLC17A8_ENST00000392989.3_Missense_Mutation_p.A231T	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	231					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CTATGCAGGGGCAGTGGTTGC	0.443													False	0	True	12:100795569	0	A	100795569	G	A	100795569	3	1	117	1	0	0	0	0	1	0	0	0	14504	1203	42	2	713	2	SLC17A8	12	100795569	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	52436454	100795569	33056326	29	31479											
RILPL2	196383	broad.mit.edu	37	chr12	123900448	123900448	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccttggatctaggtctgtTtccccgatcgaaaaaagaac	10	10	2	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:123900448T>C	ENST00000280571.8	-	4	922	c.626A>G	c.(625-627)aAa>aGa	p.K209R		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	209						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CTAGGTCTGTTTCCCCGATCG	0.502													False	0	True	12:123900448	0	C	123900448	T	C	123900448	3	2	117	1	0	0	0	0	1	0	0	0	13441	1841	64	4	13	4	RILPL2	12	123900448	Missense_Mutation	SNP	T	TCGA-IB-AAUT-01A-11D-A377-08	23104879	123900448	9951447	30	31480											
BRCA2	675	broad.mit.edu	37	chr13	32937431	32937431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacataatttcattgagcGcaaatatatctgaaacttct	5	8	3	3	rs80359052	by1000genomes	TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr13:32937431G>A	ENST00000544455.1	+	18	8319	c.8092G>A	c.(8092-8094)Gca>Aca	p.A2698T	BRCA2_ENST00000380152.3_Missense_Mutation_p.A2698T	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2698					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.S2697fs*31(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCATTGAGCGCAAATATATC	0.378			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			False	0	False	13:32937431	0	A	32937431	G	A	32937431	3	1	117	1	0	0	0	0	1	0	0	0	1506	1087	38	1	8158	1	BRCA2	13	32937431	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08		32937431	82232447	31	31481											
LAMP1	3916	broad.mit.edu	37	chr13	113964111	113964111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatgcaacacgttacagcGtccagctcatgagttttgtt	9	9	1	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr13:113964111G>A	ENST00000332556.4	+	3	531	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	LAMP1_ENST00000397181.3_Missense_Mutation_p.V113I	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	113	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		p.V113I(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACGTTACAGCGTCCAGCTCAT	0.438													False	0	False	13:113964111	0	A	113964111	G	A	113964111	3	1	117	1	0	0	0	0	1	0	0	0	8668	1145	40	1	347	1	LAMP1	13	113964111	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	81026680	113964111	1205767	32	31482											
PCNX	22990	broad.mit.edu	37	chr14	71429026	71429026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttccagaaattcttatgCcggtctagatccaagcaacc	7	12	2	2			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr14:71429026C>T	ENST00000304743.2	+	3	892	c.446C>T	c.(445-447)gCc>gTc	p.A149V	PCNX_ENST00000238570.5_Missense_Mutation_p.A149V|PCNX_ENST00000439984.3_Missense_Mutation_p.A149V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	149						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AATTCTTATGCCGGTCTAGAT	0.478													False	0	False	14:71429026	0	T	71429026	C	T	71429026	3	4	117	1	0	0	0	0	1	0	0	0	11659	739	26	2	456	2	PCNX	14	71429026	Missense_Mutation	SNP	C	TCGA-IB-AAUT-01A-11D-A377-08		71429026	35920514	33	31483											
GPR65	0	broad.mit.edu	37	chr14	88477517	88477517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcattcctcacctgcattgCcgttgatcggtatttggctg	10	11	1	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr14:88477517C>T	ENST00000267549.3	+	2	884	c.326C>T	c.(325-327)gCc>gTc	p.A109V	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	109					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	p.A109V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACCTGCATTGCCGTTGATCGG	0.428													False	0	False	14:88477517	0	T	88477517	C	T	88477517	3	4	117	1	0	0	0	0	1	0	0	0	6752	739	26	2	328	2	GPR65	14	88477517	Missense_Mutation	SNP	C	TCGA-IB-AAUT-01A-11D-A377-08	17048491	88477517	18872023	34	31484											
GFER	2671	broad.mit.edu	37	chr16	2035947	2035947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacaatgaagtgaaccGcaagctgggcaagcctgact	11	12	0	3			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr16:2035947G>A	ENST00000248114.6	+	3	542	c.536G>A	c.(535-537)cGc>cAc	p.R179H	GFER_ENST00000569451.1_3'UTR|GFER_ENST00000567719.1_Missense_Mutation_p.R104H|AC005606.14_ENST00000564438.1_lincRNA	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	179	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity			endometrium(1)|large_intestine(1)|lung(3)	5						GAAGTGAACCGCAAGCTGGGC	0.607													False	0	False	16:2035947	0	A	2035947	G	A	2035947	3	1	117	1	0	0	0	0	1	0	0	0	6383	1087	38	1	546	1	GFER	16	2035947	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08		2035947	88318806	35	31485											
DNAH2	146754	broad.mit.edu	37	chr17	7734509	7734509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacccccctgaggcctttggCcagcaccccaatgctgatgt	10	16	0	2			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:7734509C>T	ENST00000572933.1	+	80	13796	c.12336C>T	c.(12334-12336)ggC>ggT	p.G4112G	DNAH2_ENST00000389173.2_Silent_p.G4112G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4112					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCCTTTGGCCAGCACCCCA	0.527													False	0	False	17:7734509	0	T	7734509	C	T	7734509	2	4	117	1	0	0	0	0	0	0	0	1	4632	726	26	2		2	DNAH2	17	7734509	Silent	SNP	C	TCGA-IB-AAUT-01A-11D-A377-08		7734509	73460701	36	31486											
FOXN1	8456	broad.mit.edu	37	chr17	26861380	26861380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggaagaattctgtccGgcacaacctatccctcaaca	8	13	2	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:26861380G>A	ENST00000226247.2	+	6	988	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	FOXN1_ENST00000579795.1_Missense_Mutation_p.R320Q	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	320					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R320Q(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AATTCTGTCCGGCACAACCTA	0.577													False	0	False	17:26861380	0	A	26861380	G	A	26861380	3	1	117	1	0	0	0	0	1	0	0	0	6061	1116	39	1	981	1	FOXN1	17	26861380	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	19126871	26861380	54333830	37	31487											
DHRS13	147015	broad.mit.edu	37	chr17	27228119	27228119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgcccgcagctcctgccGccagcccaccactgggcggt	11	18	0	0			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:27228119G>A	ENST00000394901.3	-	3	813	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	DHRS13_ENST00000426464.2_Missense_Mutation_p.R110W|DHRS13_ENST00000378895.4_Missense_Mutation_p.R191W			Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	191						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AGCTCCTGCCGCCAGCCCACC	0.632													False	0	False	17:27228119	0	A	27228119	G	A	27228119	3	1	117	1	0	0	0	0	1	0	0	0	4519	1086	38	1	570	1	DHRS13	17	27228119	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	366739	27228119	53967091	38	31488											
KCNH4	23415	broad.mit.edu	37	chr17	40328179	40328179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgtaggggacggtgaccGcaacgtagaaggtggcaagg	17	7	0	2			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:40328179G>A	ENST00000264661.3	-	5	1054	c.722C>T	c.(721-723)gCg>gTg	p.A241V	KCNH4_ENST00000607371.1_Missense_Mutation_p.A241V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	241					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACGGTGACCGCAACGTAGAA	0.602													False	0	False	17:40328179	0	A	40328179	G	A	40328179	3	1	117	1	0	0	0	0	1	0	0	0	8084	1087	38	1	2379	1	KCNH4	17	40328179	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	13100060	40328179	40867031	39	31489											
NMT1	4836	broad.mit.edu	37	chr17	43181080	43181080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgccttcccttcagaacGcaaacggagaggtgacagat	10	10	1	4			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:43181080G>A	ENST00000592782.1	+	11	1299	c.1168G>A	c.(1168-1170)Gca>Aca	p.A390T	NMT1_ENST00000258960.2_Missense_Mutation_p.A390T			P30419	NMT1_HUMAN	N-myristoyltransferase 1	390					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CCTTCAGAACGCAAACGGAGA	0.493													False	0	False	17:43181080	0	A	43181080	G	A	43181080	3	1	117	1	0	0	0	0	1	0	0	0	10571	1087	38	1	1206	1	NMT1	17	43181080	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	2852901	43181080	38014130	40	31490											
CACNA1G	8913	broad.mit.edu	37	chr17	48650204	48650204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattggctatgcctggatcGccatcttccaggtggggcag	13	11	1	0			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:48650204G>A	ENST00000352832.5	+	6	1408	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	CACNA1G_ENST00000515765.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A346T|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000359106.5_Missense_Mutation_p.A346T|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A346T	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	346					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCCTGGATCGCCATCTTCCA	0.612													False	0	False	17:48650204	0	A	48650204	G	A	48650204	3	1	117	1	0	0	0	0	1	0	0	0	2564	1087	38	1	1058	1	CACNA1G	17	48650204	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	5469124	48650204	32545006	41	31491											
RNF213	57674	broad.mit.edu	37	chr17	78343322	78343322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagccattgaaaagcatgCccgcttccggcagatgtgca	12	11	0	2	rs142466553		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:78343322C>T	ENST00000582970.1	+	45	12319	c.12176C>T	c.(12175-12177)gCc>gTc	p.A4059V	RNF213_ENST00000336301.6_Missense_Mutation_p.A2132V|RNF213_ENST00000508628.2_Missense_Mutation_p.A4108V|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAAAAGCATGCCCGCTTCCGG	0.498													False	0	True	17:78343322	0	T	78343322	C	T	78343322	3	4	117	1	0	0	0	0	1	0	0	0	13556	739	26	2	12669	2	RNF213	17	78343322	Missense_Mutation	SNP	C	TCGA-IB-AAUT-01A-11D-A377-08	29693118	78343322	2851888	42	31492											
CYP4F8	11283	broad.mit.edu	37	chr19	15726525	15726525	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcctggctcctggcccGcatcctggcctggacctatg	12	17	0	0			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr19:15726525G>A	ENST00000441682.2	+	0	162							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTCCTGGCCCGCATCCTGGCC	0.672													False	0	True	19:15726525	0	A	15726525	G	A	15726525	1	1	117	0	1	0	0	0	0	0	0	0	4216	1087	38	1		1	CYP4F8	19	15726525	RNA	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08		15726525	43402458	43	31493											
CYP2F1	1572	broad.mit.edu	37	chr19	41626275	41626275	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgccttctccagtggggatCgatggaaggtcctgagacag	14	10	1	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr19:41626275C>T	ENST00000331105.2	+	4	430	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	120					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R120*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGTGGGGATCGATGGAAGGT	0.562													False	0	False	19:41626275	0	T	41626275	C	T	41626275	4	4	117	1	0	0	0	0	0	1	0	0	4196	876	31	1	368	1	CYP2F1	19	41626275	Nonsense_Mutation	SNP	C	TCGA-IB-AAUT-01A-11D-A377-08	25899750	41626275	17502708	44	31494											
KIR2DL1	3802	broad.mit.edu	37	chr19	55282301	55282301	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcatgatctttctttccagGgttcttcttgctgcaggggg	11	9	5	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr19:55282301G>C	ENST00000336077.6	+	2	75	c.34_splice	c.e2-1	p.G12_splice	KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Splice_Site_p.G12_splice|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	12					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TTCTTTCCAGGGTTCTTCTTG	0.567													False	0	True	19:55282301	0	C	55282301	G	C	55282301	5	2	117	1	0	0	0	0	0	0	1	0	8366	1246	43	5	41	5	KIR2DL1	19	55282301	Splice_Site	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08	13656026	55282301	3846682	45	31495											
GNAS	2778	broad.mit.edu	37	chr20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggacctgcttcgctgccGtgtcctgacttctggaatct	10	13	3	1	rs121913495		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr20:57484421G>A	ENST00000371100.4	+	8	3083	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			False	0	False	20:57484421	0	A	57484421	G	A	57484421	3	1	117	1	0	0	0	0	1	0	0	0	6555	1145	40	1	3449	1	GNAS	20	57484421	Missense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08		57484421	5541099	46	31496											
SYCP2	10388	broad.mit.edu	37	chr20	58443596	58443596	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gattatcttctatatatattCttttgcgactaagatgttgg	7	5	3	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr20:58443596C>G	ENST00000357552.3	-	38	4085	c.3860G>C	c.(3859-3861)aGa>aCa	p.R1287T	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1287T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1287					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATATATATTCTTTTGCGACT	0.323													False	0	True	20:58443596	0	G	58443596	C	G	58443596	3	3	117	1	0	0	0	0	1	0	0	0	15514	913	32	5	764	5	SYCP2	20	58443596	Missense_Mutation	SNP	C	TCGA-IB-AAUT-01A-11D-A377-08	959175	58443596	4581924	47	31497											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31844167	31844167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggggctcatgggtttgCgcatgccttggaatggatct	15	7	2	1			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr22:31844167C>T	ENST00000397525.1	-	13	2043	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R607H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R583H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R262H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R432H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	607						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATGGGTTTGCGCATGCCTTG	0.537													False	0	False	22:31844167	0	T	31844167	C	T	31844167	3	4	117	1	0	0	0	0	1	0	0	0	5067	768	27	1	1168	1	EIF4ENIF1	22	31844167	Missense_Mutation	SNP	C	TCGA-IB-AAUT-01A-11D-A377-08		31844167	19460399	48	31498											
GPRASP2	114928	broad.mit.edu	37	chrX	101969855	101969855	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agcctgaaaagaaggctgggGaagaggttatcgctgggcct	16	7	0	3			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chrX:101969855G>T	ENST00000543253.1	+	5	977	c.58G>T	c.(58-60)Gaa>Taa	p.E20*	GPRASP2_ENST00000535209.1_Nonsense_Mutation_p.E20*|GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.E20*	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAGGCTGGGGAAGAGGTTAT	0.527													False	0	True	X:101969855	0	T	101969855	G	T	101969855	4	4	117	1	0	0	0	0	0	1	0	0	6770	1175	41	3	60	3	GPRASP2	23	101969855	Nonsense_Mutation	SNP	G	TCGA-IB-AAUT-01A-11D-A377-08		101969855	53300705	49	31499											
CROCC	9696	broad.mit.edu	37	chr1	17266463	17266463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttagcgacagcgagagCgagcggcgggccctagagga	17	11	0	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:17266463C>T	ENST00000375541.5	+	13	1752	c.1683C>T	c.(1681-1683)agC>agT	p.S561S	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	561					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACAGCGAGAGCGAGCGGCGGG	0.692													False	0	True	1:17266463	0	T	17266463	C	T	17266463	2	4	118	1	0	0	0	0	0	0	0	1	3916	767	27	1		1	CROCC	1	17266463	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08		17266463	231984158	1	31500											
CELA3A	10136	broad.mit.edu	37	chr1	22333991	22333991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgtgctggagggtacAtccgctccggctgcaacgtg	16	10	0	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:22333991A>G	ENST00000290122.3	+	6	644	c.625A>G	c.(625-627)Atc>Gtc	p.I209V		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGAGGGTACATCCGCTCCGG	0.617													False	0	False	1:22333991	0	G	22333991	A	G	22333991	3	3	118	1	0	0	0	0	1	0	0	0	3236	217	8	4	647	4	CELA3A	1	22333991	Missense_Mutation	SNP	A	TCGA-IB-AAUU-01A-11D-A377-08	5067528	22333991	226916630	2	31501											
RUNX3	864	broad.mit.edu	37	chr1	25254076	25254076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacttacctcgcccactgCggcccacgaagcgaaggtcg	10	17	0	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:25254076C>T	ENST00000399916.1	-	3	908	c.470G>A	c.(469-471)cGc>cAc	p.R157H	RUNX3_ENST00000540420.1_Missense_Mutation_p.R50H|RUNX3_ENST00000338888.3_Missense_Mutation_p.R157H|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000308873.6_Missense_Mutation_p.R143H	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	143	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TCGCCCACTGCGGCCCACGAA	0.597													False	0	False	1:25254076	0	T	25254076	C	T	25254076	3	4	118	1	0	0	0	0	1	0	0	0	13828	768	27	1	835	1	RUNX3	1	25254076	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	2920085	25254076	223996545	3	31502											
ZNF362	149076	broad.mit.edu	37	chr1	33745956	33745956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaagtccgaacgcggccGcaaaaagatcaaggcggaga	12	13	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:33745956G>A	ENST00000539719.1	+	5	751	c.581G>A	c.(580-582)cGc>cAc	p.R194H	ZNF362_ENST00000373428.5_Missense_Mutation_p.R194H	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	194				R -> L (in Ref. 1; AAL55863).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAACGCGGCCGCAAAAAGATC	0.647													False	0	False	1:33745956	0	A	33745956	G	A	33745956	3	1	118	1	0	0	0	0	1	0	0	0	17951	1087	38	1	595	1	ZNF362	1	33745956	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	8491880	33745956	215504665	4	31503											
CSMD2	114784	broad.mit.edu	37	chr1	34276462	34276462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtgggcatcacacatgCgggctgcagaggagatgaaa	16	7	1	3	rs61771030		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:34276462C>T	ENST00000373381.4	-	10	1504	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	CSMD2_ENST00000338325.1_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	403	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATCACACATGCGGGCTGCAGA	0.527													False	0	True	1:34276462	0	T	34276462	C	T	34276462	3	4	118	1	0	0	0	0	1	0	0	0	3970	768	27	1	9495	1	CSMD2	1	34276462	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	530506	34276462	214974159	5	31504											
GLMN	11146	broad.mit.edu	37	chr1	92755861	92755861	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aataattcctttggattgcaTaactataaaaatattcacaa	3	6	1	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:92755861T>A	ENST00000370360.3	-	5	369	c.288A>T	c.(286-288)ttA>ttT	p.L96F	GLMN_ENST00000534881.1_Missense_Mutation_p.L96F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	96					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTGGATTGCATAACTATAAAA	0.308									Multiple Glomus Tumors (of the Skin), Familial				False	0	False	1:92755861	0	A	92755861	T	A	92755861	3	1	118	1	0	0	0	0	1	0	0	0	6493	1403	49	5	1556	5	GLMN	1	92755861	Missense_Mutation	SNP	T	TCGA-IB-AAUU-01A-11D-A377-08	58479399	92755861	156494760	6	31505											
ADORA3	140	broad.mit.edu	37	chr1	112042946	112042946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatgtcaagatagatggCgcacatgacaaccaggggga	13	7	1	4	rs143962803	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:112042946C>T	ENST00000241356.4	-	2	988	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	195					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.A195T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGATAGATGGCGCACATGACA	0.433													False	0	False	1:112042946	0	T	112042946	C	T	112042946	3	4	118	1	0	0	0	0	1	0	0	0	329	768	27	1	1091	1	ADORA3	1	112042946	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	19287085	112042946	137207675	7	31506											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	118	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-IB-AAUU-01A-11D-A377-08	40628569	152671515	96579106	8	31507											
SPTA1	6708	broad.mit.edu	37	chr1	158585164	158585164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatcttggttagttgacgCttcatcgcctggatctcctt	8	11	3	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:158585164C>T	ENST00000368148.3	-	48	6810	c.6630G>A	c.(6628-6630)aaG>aaA	p.K2210K	SPTA1_ENST00000368147.3_Silent_p.K2207K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2210					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTAGTTGACGCTTCATCGCCT	0.483													False	0	False	1:158585164	0	T	158585164	C	T	158585164	2	4	118	1	0	0	0	0	0	0	0	1	15198	796	28	2		2	SPTA1	1	158585164	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	5913649	158585164	90665457	9	31508											
DCAF6	55827	broad.mit.edu	37	chr1	167960489	167960489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgtctgttgctatttgCccaccaataccatattacct	5	14	1	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:167960489C>T	ENST00000367840.3	+	6	694	c.600C>T	c.(598-600)tgC>tgT	p.C200C	DCAF6_ENST00000432587.2_Silent_p.C169C|DCAF6_ENST00000367843.3_Silent_p.C200C|DCAF6_ENST00000312263.6_Silent_p.C200C|DCAF6_ENST00000470919.1_3'UTR	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	200					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TTGCTATTTGCCCACCAATAC	0.393													False	0	True	1:167960489	0	T	167960489	C	T	167960489	2	4	118	1	0	0	0	0	0	0	0	1	4299	747	26	2		2	DCAF6	1	167960489	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	9375325	167960489	81290132	10	31509											
HEATR1	55127	broad.mit.edu	37	chr1	236762848	236762848	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttagaagctgtatgactcGcacaaatattcttgtctcgt	7	8	2	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:236762848G>A	ENST00000366582.3	-	4	550	c.436C>T	c.(436-438)Cga>Tga	p.R146*	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Nonsense_Mutation_p.R146*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	146					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTATGACTCGCACAAATATT	0.368													False	0	False	1:236762848	0	A	236762848	G	A	236762848	4	1	118	1	0	0	0	0	0	1	0	0	7074	1095	38	1	6166	1	HEATR1	1	236762848	Nonsense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	68802359	236762848	12487773	11	31510											
RYR2	6262	broad.mit.edu	37	chr1	237729947	237729947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctatgcagtgaaggccGgacggtggtattttgaattt	13	6	0	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:237729947G>A	ENST00000366574.2	+	28	3612	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1099	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGAAGGCCGGACGGTGGTA	0.552													False	0	False	1:237729947	0	A	237729947	G	A	237729947	3	1	118	1	0	0	0	0	1	0	0	0	13848	1117	39	1	3405	1	RYR2	1	237729947	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	967099	237729947	11520674	12	31511											
HK2	3099	broad.mit.edu	37	chr2	75118049	75118049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtggcctgccgcatccGtgaggctggacagcgataga	15	11	0	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:75118049G>A	ENST00000290573.2	+	18	3335	c.2735G>A	c.(2734-2736)cGt>cAt	p.R912H	HK2_ENST00000409174.1_Missense_Mutation_p.R884H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	912	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.R912L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGCCGCATCCGTGAGGCTGGA	0.542													False	0	False	2:75118049	0	A	75118049	G	A	75118049	3	1	118	1	0	0	0	0	1	0	0	0	7238	1145	40	1	2805	1	HK2	2	75118049	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		75118049	168081324	13	31512											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	118	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-IB-AAUU-01A-11D-A377-08	22729316	97847365	145352008	14	31513											
SCN2A	6326	broad.mit.edu	37	chr2	166201198	166201198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatttttgctgtggtcgGcatgcagctctttggtaaga	11	8	2	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:166201198G>A	ENST00000375437.2	+	16	2986	c.2696G>A	c.(2695-2697)gGc>gAc	p.G899D	SCN2A_ENST00000283256.6_Missense_Mutation_p.G899D|SCN2A_ENST00000375427.2_Missense_Mutation_p.G899D|SCN2A_ENST00000357398.3_Missense_Mutation_p.G899D	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	899					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCTGTGGTCGGCATGCAGCTC	0.443													False	0	False	2:166201198	0	A	166201198	G	A	166201198	3	1	118	1	0	0	0	0	1	0	0	0	13997	1203	42	2	2850	2	SCN2A	2	166201198	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	68353833	166201198	76998175	15	31514											
TTN	7273	broad.mit.edu	37	chr2	179407109	179407109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtctggtaaacttaaaCgtggacctagtcactgattc	10	8	2	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:179407109C>T	ENST00000589042.1	-	349	97598	c.97374G>A	c.(97372-97374)acG>acA	p.T32458T	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T30817T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T23393T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.T23518T|TTN_ENST00000342992.6_Silent_p.T29890T|TTN_ENST00000342175.6_Silent_p.T23585T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30817							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAACTTAAACGTGGACCTAG	0.502													False	0	True	2:179407109	0	T	179407109	C	T	179407109	2	4	118	1	0	0	0	0	0	0	0	1	16819	523	19	1		1	TTN	2	179407109	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	13205911	179407109	63792264	16	31515											
HECW2	57520	broad.mit.edu	37	chr2	197187274	197187274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacgcttgatgatgggaCggctcttggcaaatttgtct	12	7	2	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:197187274C>T	ENST00000260983.2	-	7	994	c.812G>A	c.(811-813)cGt>cAt	p.R271H	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	271	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GATGATGGGACGGCTCTTGGC	0.423													False	0	False	2:197187274	0	T	197187274	C	T	197187274	3	4	118	1	0	0	0	0	1	0	0	0	7090	536	19	1	3998	1	HECW2	2	197187274	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	17780165	197187274	46012099	17	31516											
PLCL2	23228	broad.mit.edu	37	chr3	17052241	17052241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcttaaaatgggttgccGgagtgttgaattagatgtat	12	4	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:17052241G>A	ENST00000418129.2	+	2	1490	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.R342Q|PLCL2_ENST00000432376.1_Missense_Mutation_p.R342Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	468					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATGGGTTGCCGGAGTGTTGAA	0.423													False	0	False	3:17052241	0	A	17052241	G	A	17052241	3	1	118	1	0	0	0	0	1	0	0	0	12109	1116	39	1	1403	1	PLCL2	3	17052241	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		17052241	180970189	18	31517											
CX3CR1	1524	broad.mit.edu	37	chr3	39307048	39307048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaatcaacgtggactgagCgcccacacaggacagccagg	12	12	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:39307048C>T	ENST00000541347.1	-	2	1192	c.953G>A	c.(952-954)cGc>cAc	p.R318H	CX3CR1_ENST00000542107.1_Missense_Mutation_p.R318H|CX3CR1_ENST00000358309.3_Missense_Mutation_p.R350H|CX3CR1_ENST00000399220.2_Missense_Mutation_p.R318H	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	318					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GTGGACTGAGCGCCCACACAG	0.478													False	0	False	3:39307048	0	T	39307048	C	T	39307048	3	4	118	1	0	0	0	0	1	0	0	0	4100	768	27	1	118	1	CX3CR1	3	39307048	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	22254807	39307048	158715382	19	31518											
CD86	942	broad.mit.edu	37	chr3	121822466	121822466	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagctagtagtattttggCaggaccaggaaaacttggtt	13	5	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:121822466C>T	ENST00000330540.2	+	3	288	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000393627.2_Nonsense_Mutation_p.Q52*	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	58	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AGTATTTTGGCAGGACCAGGA	0.418													False	0	False	3:121822466	0	T	121822466	C	T	121822466	4	4	118	1	0	0	0	0	0	1	0	0	3066	711	25	2	182	2	CD86	3	121822466	Nonsense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	82515418	121822466	76199964	20	31519											
EPHB1	2047	broad.mit.edu	37	chr3	134884864	134884864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgattgctggctcggcagCggccggggtcgtgttcgttg	17	11	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:134884864C>T	ENST00000398015.3	+	8	2010	c.1640C>T	c.(1639-1641)gCg>gTg	p.A547V	EPHB1_ENST00000493838.1_Missense_Mutation_p.A108V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	547						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCTCGGCAGCGGCCGGGGTC	0.567													False	0	False	3:134884864	0	T	134884864	C	T	134884864	3	4	118	1	0	0	0	0	1	0	0	0	5206	768	27	1	1670	1	EPHB1	3	134884864	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	13062398	134884864	63137566	21	31520											
CLSTN2	64084	broad.mit.edu	37	chr3	140178467	140178467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgatcttcaagtttgacGgcaggcagggtgccaaagtc	13	8	2	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:140178467G>A	ENST00000458420.3	+	7	1268	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	360					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAAGTTTGACGGCAGGCAGGG	0.572										HNSCC(16;0.037)			False	0	True	3:140178467	0	A	140178467	G	A	140178467	3	1	118	1	0	0	0	0	1	0	0	0	3585	1116	39	1	1104	1	CLSTN2	3	140178467	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	5293603	140178467	57843963	22	31521											
GRK7	131890	broad.mit.edu	37	chr3	141535562	141535562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctttcttcacagagaaaaGtctgatgatcccaggaaaca	7	10	3	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:141535562G>T	ENST00000264952.2	+	4	1469	c.1332G>T	c.(1330-1332)aaG>aaT	p.K444N		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	444	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACAGAGAAAAGTCTGATGATC	0.413													False	0	True	3:141535562	0	T	141535562	G	T	141535562	3	4	118	1	0	0	0	0	1	0	0	0	6841	1020	36	3	1346	3	GRK7	3	141535562	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	1357095	141535562	56486868	23	31522											
P2RY12	0	broad.mit.edu	37	chr3	151055628	151055628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattggagtctcttcatttgGgtcaccaccatcctgttctt	7	12	4	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:151055628G>A	ENST00000302632.3	-	3	1305	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	336					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TCTTCATTTGGGTCACCACCA	0.368													False	0	True	3:151055628	0	A	151055628	G	A	151055628	3	1	118	1	0	0	0	0	1	0	0	0	11417	1232	43	2	26	2	P2RY12	3	151055628	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	9520066	151055628	46966802	24	31523											
GPR149	344758	broad.mit.edu	37	chr3	154055947	154055947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctggagttattttttgCccttctgcgcttacctcata	9	10	2	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:154055947C>T	ENST00000389740.2	-	4	1836	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	579						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTATTTTTTGCCCTTCTGCGC	0.458													False	0	True	3:154055947	0	T	154055947	C	T	154055947	2	4	118	1	0	0	0	0	0	0	0	1	6700	726	26	2		2	GPR149	3	154055947	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	3000319	154055947	43966483	25	31524											
ZNF718	255403	broad.mit.edu	37	chr4	155929	155929	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagaaatgtgaagaatgtgGgagcctttaagtcttcctca	10	6	2	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:155929G>A	ENST00000510175.1	+	0	1364							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GAAGAATGTGGGAGCCTTTAA	0.358													False	0	True	4:155929	0	A	155929	G	A	155929	1	1	118	0	1	0	0	0	0	0	0	0	18203	1247	43	2		2	ZNF718	4	155929	RNA	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		155929	190998347	26	31525											
TBC1D1	23216	broad.mit.edu	37	chr4	38023260	38023260	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcacggtggccgcagtgcaGcagacagctaaggcgccagc	14	13	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:38023260G>T	ENST00000261439.4	+	6	1486	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	TBC1D1_ENST00000508802.1_Missense_Mutation_p.Q377H	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	377	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCGCAGTGCAGCAGACAGCTA	0.517													False	0	False	4:38023260	0	T	38023260	G	T	38023260	3	4	118	1	0	0	0	0	1	0	0	0	15679	962	34	3	1149	3	TBC1D1	4	38023260	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	37867331	38023260	153131016	27	31526											
SLAIN2	57606	broad.mit.edu	37	chr4	48379970	48379970	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctatgagttacaccagtcCttacagtccaaatgccagta	6	12	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:48379970C>G	ENST00000264313.6	+	3	1014	c.596C>G	c.(595-597)cCt>cGt	p.P199R	SLAIN2_ENST00000506375.1_3'UTR|SLAIN2_ENST00000512093.1_Missense_Mutation_p.P6R	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	199						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TACACCAGTCCTTACAGTCCA	0.413													False	0	False	4:48379970	0	G	48379970	C	G	48379970	3	3	118	1	0	0	0	0	1	0	0	0	14447	681	24	5	606	5	SLAIN2	4	48379970	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	10356710	48379970	142774306	28	31527											
ZFP42	132625	broad.mit.edu	37	chr4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaatgtgggaaagcgttcGttgagagctcaaaactaaag	13	6	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:188924640G>A	ENST00000326866.4	+	4	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_ENST00000509524.1_Missense_Mutation_p.V227I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	227					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502													False	0	True	4:188924640	0	A	188924640	G	A	188924640	3	1	118	1	0	0	0	0	1	0	0	0	17733	1145	40	1	681	1	ZFP42	4	188924640	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	140544670	188924640	2229636	29	31528											
ITGA2	3673	broad.mit.edu	37	chr5	52356793	52356793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgctggtgctcctcggGcaaattataccggccagata	11	10	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:52356793G>A	ENST00000296585.5	+	12	1518	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	459					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGCTCCTCGGGCAAATTATAC	0.443													False	0	True	5:52356793	0	A	52356793	G	A	52356793	3	1	118	1	0	0	0	0	1	0	0	0	7925	1203	42	2	1421	2	ITGA2	5	52356793	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		52356793	128558467	30	31529											
TNPO1	3842	broad.mit.edu	37	chr5	72179007	72179007	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatggaattgaagaggaagaTgatgatgatgatgaaattga	14	0	0	9	rs1057846		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:72179007T>A	ENST00000337273.5	+	11	1524	c.1098T>A	c.(1096-1098)gaT>gaA	p.D366E	TNPO1_ENST00000506351.2_Missense_Mutation_p.D358E|TNPO1_ENST00000454282.1_Missense_Mutation_p.D316E|TNPO1_ENST00000523768.1_Missense_Mutation_p.D316E	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	366	Asp/Glu-rich (acidic).				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAGAGGAAgatgatgatgatg	0.408													False	0	True	5:72179007	0	A	72179007	T	A	72179007	3	1	118	1	0	0	0	0	1	0	0	0	16417	1461	51	5	1140	5	TNPO1	5	72179007	Missense_Mutation	SNP	T	TCGA-IB-AAUU-01A-11D-A377-08	19822214	72179007	108736253	31	31530											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	118	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-IB-AAUU-01A-11D-A377-08	6431437	78610444	102304816	32	31531											
GRM6	2916	broad.mit.edu	37	chr5	178413350	178413350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgaggaaggtgatggcGtagatgaggaagatgccggt	17	5	0	5			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:178413350G>A	ENST00000231188.5	-	8	2083	c.1905C>T	c.(1903-1905)taC>taT	p.Y635Y	GRM6_ENST00000517717.1_Silent_p.Y635Y|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	635					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGGTGATGGCGTAGATGAGGA	0.672													False	0	False	5:178413350	0	A	178413350	G	A	178413350	2	1	118	1	0	0	0	0	0	0	0	1	6848	1140	40	1		1	GRM6	5	178413350	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	99802906	178413350	2501910	33	31532											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	118	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-AAUU-01A-11D-A377-08		7393450	163721617	34	31533											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834834	27834845	+	In_Frame_Del	DEL	CTTCTTCGGAGT	CTTCTTCGGAGT	-													gccgccgcgggcttcttcgcCttcttcggagtcttcttcac					rs143393068	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	CTTCTTCGGAGT	CTTCTTCGGAGT	-	-	CTTCTTCGGAGT	CTTCTTCGGAGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:27834834_27834845delCTTCTTCGGAGT	ENST00000331442.3	-	1	514_525	c.463_474delACTCCGAAGAAG	c.(463-474)actccgaagaagdel	p.TPKK155del		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	155					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCTTCTTCGCCTTCTTCGGAGTCTTCTTCACT	0.599													False	1	False	6:27834834	0	-	27834845	CTTCTTCGGAGT	-	27834834	7	5	118	1	0	1	0	1	0	0	0	0	7170	680	24	0	210	0	HIST1H1B	6	27834834	In_Frame_Del	DEL	CTTCTTCGGAGT	TCGA-IB-AAUU-01A-11D-A377-08	20441384	27834834	143280233	35	31534											
TTBK1	84630	broad.mit.edu	37	chr6	43222815	43222815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggccgggtttcgaggaaCggttcgctatgcctcagtca	14	10	2	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:43222815C>T	ENST00000259750.4	+	7	688	c.605C>T	c.(604-606)aCg>aTg	p.T202M	TTBK1_ENST00000304139.5_Missense_Mutation_p.T151M	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	202	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTTCGAGGAACGGTTCGCTAT	0.617													False	0	False	6:43222815	0	T	43222815	C	T	43222815	3	4	118	1	0	0	0	0	1	0	0	0	16760	536	19	1	627	1	TTBK1	6	43222815	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	15387981	43222815	127892252	36	31535											
PHF3	23469	broad.mit.edu	37	chr6	64401799	64401800	+	In_Frame_Ins	INS	-	-	ATA													tccagatactttggaaaaccINSaagctacagttgaattccat							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:64401799_64401800insATA	ENST00000262043.3	+	5	2702_2703	c.2362_2363insATA	c.(2362-2364)caa>cATAaa	p.788_788Q>HK	PHF3_ENST00000393387.1_In_Frame_Ins_p.788_788Q>HK			Q92576	PHF3_HUMAN	PHD finger protein 3	788					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTTGGAAAACCAAGCTACAGTT	0.351													False	0	False	6:64401799	0	ATA	64401800	-	ATA	64401799	7	5	118	1	0	1	1	0	0	0	0	0	11905	595	21	0	2376	0	PHF3	6	64401799	In_Frame_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	21178984	64401799	106713268	37	31536											
ABCB5	340273	broad.mit.edu	37	chr7	20793112	20793112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaggccacttcagccctcGataatgacagtgagaaggta	11	9	1	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:20793112G>A	ENST00000404938.2	+	27	4211	c.3559G>A	c.(3559-3561)Gat>Aat	p.D1187N	ABCB5_ENST00000258738.6_Missense_Mutation_p.D742N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	742					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCAGCCCTCGATAATGACAG	0.393													False	0	False	7:20793112	0	A	20793112	G	A	20793112	3	1	118	1	0	0	0	0	1	0	0	0	44	1058	37	1	3702	1	ABCB5	7	20793112	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		20793112	138345551	38	31537											
CPVL	54504	broad.mit.edu	37	chr7	29132283	29132283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcattgactgcatatccGtgggtatcatcagtaaaact	7	10	3	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:29132283G>A	ENST00000409850.1	-	10	1144	c.498C>T	c.(496-498)caC>caT	p.H166H	CPVL_ENST00000396276.3_Silent_p.H166H|CPVL_ENST00000265394.5_Silent_p.H166H			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	166					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTGCATATCCGTGGGTATCAT	0.443													False	0	False	7:29132283	0	A	29132283	G	A	29132283	2	1	118	1	0	0	0	0	0	0	0	1	3858	1136	40	1		1	CPVL	7	29132283	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	8339171	29132283	130006380	39	31538											
DGKI	9162	broad.mit.edu	37	chr7	137263014	137263014	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaaataaaatgtatacctAcccctgcatagaacatttta	4	8	0	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:137263014A>C	ENST00000453654.1	-	16	1338		c.e16+1		DGKI_ENST00000446122.1_Splice_Site|DGKI_ENST00000288490.5_Splice_Site|DGKI_ENST00000424189.2_Splice_Site			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATGTATACCTACCCCTGCATA	0.313													False	0	True	7:137263014	0	C	137263014	A	C	137263014	5	2	118	1	0	0	0	0	0	0	1	0	4501	405	14	4	1573	4	DGKI	7	137263014	Splice_Site	SNP	A	TCGA-IB-AAUU-01A-11D-A377-08	108130731	137263014	21875649	40	31539											
PRSS55	203074	broad.mit.edu	37	chr8	10383123	10383123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctcagtgttgctgctcCtgtccctggtcacgggaact	11	12	2	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:10383123C>T	ENST00000328655.3	+	1	68	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.L10L	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	10					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GTTGCTGCTCCTGTCCCTGGT	0.672													False	0	False	8:10383123	0	T	10383123	C	T	10383123	2	4	118	1	0	0	0	0	0	0	0	1	12710	680	24	2		2	PRSS55	8	10383123	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08		10383123	135980899	41	31540											
CDCA2	157313	broad.mit.edu	37	chr8	25317954	25317954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgactcctcagaagcatgCcgaattacctcctaatcctt	6	13	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:25317954C>T	ENST00000330560.3	+	3	593	c.116C>T	c.(115-117)gCc>gTc	p.A39V	CDCA2_ENST00000380665.3_Missense_Mutation_p.A24V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	39					cell division|mitosis	cytoplasm|nucleus		p.A39V(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CAGAAGCATGCCGAATTACCT	0.428													False	0	False	8:25317954	0	T	25317954	C	T	25317954	3	4	118	1	0	0	0	0	1	0	0	0	3109	739	26	2	122	2	CDCA2	8	25317954	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	14934831	25317954	121046068	42	31541											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205614	38205614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctcctgacggatgttggCggagtcaatgagttgaggtg	15	7	1	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:38205614C>T	ENST00000317025.8	-	2	593	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A26T|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A26T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A26T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	26					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CGGATGTTGGCGGAGTCAATG	0.453			T	NUP98	AML								False	0	False	8:38205614	0	T	38205614	C	T	38205614	3	4	118	1	0	0	0	0	1	0	0	0	17447	768	27	1	4416	1	WHSC1L1	8	38205614	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	12887660	38205614	108158408	43	31542											
ADAM2	2515	broad.mit.edu	37	chr8	39646232	39646232	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaactttttgagcgacaaCagttgtatcagaccccatat	7	9	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:39646232C>A	ENST00000265708.4	-	8	701	c.598G>T	c.(598-600)Gtt>Ttt	p.V200F	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.V200F|ADAM2_ENST00000347580.4_Missense_Mutation_p.V181F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	200	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGAGCGACAACAGTTGTATCA	0.274													False	0	False	8:39646232	0	A	39646232	C	A	39646232	3	1	118	1	0	0	0	0	1	0	0	0	241	478	17	3	1661	3	ADAM2	8	39646232	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	1440618	39646232	106717790	44	31543											
ZMAT4	79698	broad.mit.edu	37	chr8	40532370	40532370	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acagagcccacagtatctgtCtgaatctcttctttgatagg	8	10	4	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:40532370C>G	ENST00000297737.6	-	5	576	c.430G>C	c.(430-432)Gac>Cac	p.D144H	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	144						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CAGTATCTGTCTGAATCTCTT	0.507													False	0	True	8:40532370	0	G	40532370	C	G	40532370	3	3	118	1	0	0	0	0	1	0	0	0	17777	913	32	5	271	5	ZMAT4	8	40532370	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	886138	40532370	105831652	45	31544											
CHMP4C	92421	broad.mit.edu	37	chr8	82670525	82670525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccactgcacgtcgatcccGagcaggtctgttacccagct	10	15	1	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:82670525G>A	ENST00000297265.4	+	4	825	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	211	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						CGTCGATCCCGAGCAGGTCTG	0.458													False	0	True	8:82670525	0	A	82670525	G	A	82670525	3	1	118	1	0	0	0	0	1	0	0	0	3381	1058	37	1	646	1	CHMP4C	8	82670525	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	42138155	82670525	63693497	46	31545											
PABPC1	26986	broad.mit.edu	37	chr8	101719224	101719225	+	Splice_Site	INS	-	-	GGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA													caccgggcatattttggaatINSgctgcattttaaagatgtga							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:101719224_101719225insGGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA	ENST00000318607.5	-	10	2465_2466	c.1337_1338insTAAGACCAAGTCCTCGCTGGACTGCTCAGGGTGCCAGACCTCATCC	c.(1336-1338)cca>ccTAAGACCAAGTCCTCGCTGGACTGCTCAGGGTGCCAGACCTCATCCa	p.-446fs	PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Splice_Site_p.-401fs|PABPC1_ENST00000522387.1_Splice_Site_p.-414fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TATTTTGGAATGCTGCATTTTA	0.416													False	0	False	8:101719224	0	GGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA	101719225	-	GGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA	101719224	8	5	118	1	0	1	1	0	0	0	1	0	11431	1478	51	0	592	0	PABPC1	8	101719224	Splice_Site	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	19048699	101719224	44644798	47	31546											
PDCD1LG2	80380	broad.mit.edu	37	chr9	5535034	5535034	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcctgggactacaagtacctGactctgaaagtcaaaggtga	11	9	2	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:5535034G>A	ENST00000397747.3	+	3	593	c.345G>A	c.(343-345)ctG>ctA	p.L115L	PDCD1LG2_ENST00000397745.2_Silent_p.L115L	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	115	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		ACAAGTACCTGACTCTGAAAG	0.483													False	0	False	9:5535034	0	A	5535034	G	A	5535034	2	1	118	1	0	0	0	0	0	0	0	1	11686	1277	45	2		2	PDCD1LG2	9	5535034	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		5535034	135678397	48	31547											
TGFBR1	7046	broad.mit.edu	37	chr9	101907091	101907091	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atggaacttgctgtattgcaGacttaggactggcagtaaga	12	6	0	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:101907091G>C	ENST00000374994.4	+	6	1168	c.1051G>C	c.(1051-1053)Gac>Cac	p.D351H	TGFBR1_ENST00000374990.2_Missense_Mutation_p.D274H|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D355H|TGFBR1_ENST00000550253.1_Missense_Mutation_p.D282H	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	351	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTGTATTGCAGACTTAGGACT	0.358													False	0	False	9:101907091	0	C	101907091	G	C	101907091	3	2	118	1	0	0	0	0	1	0	0	0	15903	942	33	5	1073	5	TGFBR1	9	101907091	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	96372057	101907091	39306340	49	31548											
MUSK	4593	broad.mit.edu	37	chr9	113547892	113547892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccatgtaccagaggatgCcgctccttctgaaccccaaa	7	16	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:113547892C>T	ENST00000416899.2	+	11	1774	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	MUSK_ENST00000374448.4_Missense_Mutation_p.P558S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S|MUSK_ENST00000189978.5_Missense_Mutation_p.P558S			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	558					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAGAGGATGCCGCTCCTTCT	0.498													False	0	False	9:113547892	0	T	113547892	C	T	113547892	3	4	118	1	0	0	0	0	1	0	0	0	10056	739	26	2	1754	2	MUSK	9	113547892	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	11640801	113547892	27665539	50	31549											
SLC18A3	6572	broad.mit.edu	37	chr10	50819803	50819803	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggccttcgtgcctcatgtGctgggcgtctacctcaccgt	11	16	3	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:50819803G>T	ENST00000374115.3	+	1	1457	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	339					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGCCTCATGTGCTGGGCGTCT	0.667													False	0	False	10:50819803	0	T	50819803	G	T	50819803	2	4	118	1	0	0	0	0	0	0	0	1	14508	1306	46	3		3	SLC18A3	10	50819803	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		50819803	84714944	51	31550											
CTNNA3	29119	broad.mit.edu	37	chr10	68940134	68940134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaatggcgttgcattctgCgataatccgctctcggtgta	12	10	2	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:68940134C>T	ENST00000433211.1	-	7	1162	c.988G>A	c.(988-990)Gca>Aca	p.A330T	CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000545309.1_Missense_Mutation_p.A330T|CTNNA3_ENST00000373744.4_Missense_Mutation_p.A330T	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	330					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTGCATTCTGCGATAATCCGC	0.527													False	0	False	10:68940134	0	T	68940134	C	T	68940134	3	4	118	1	0	0	0	0	1	0	0	0	4039	768	27	1	1747	1	CTNNA3	10	68940134	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	18120331	68940134	66594613	52	31551											
MARCH5	54708	broad.mit.edu	37	chr10	94110927	94110927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatttacgacaggcacaccGcaaaattctgaattatccag	6	10	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:94110927G>A	ENST00000358935.2	+	6	1132	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	267					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGGCACACCGCAAAATTCTG	0.353													False	0	False	10:94110927	0	A	94110927	G	A	94110927	3	1	118	1	0	0	0	0	1	0	0	0	9371	1087	38	1	822	1	MARCH5	10	94110927	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	25170793	94110927	41423820	53	31552											
PDCD11	22984	broad.mit.edu	37	chr10	105182763	105182763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactctgtgttgatccagaCgctggccgagatgaccccag	12	12	1	5	rs142899352		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:105182763C>T	ENST00000369797.3	+	18	2610	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	839					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.T839M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGATCCAGACGCTGGCCGAG	0.527													False	0	False	10:105182763	0	T	105182763	C	T	105182763	3	4	118	1	0	0	0	0	1	0	0	0	11685	536	19	1	2582	1	PDCD11	10	105182763	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	11071836	105182763	30351984	54	31553											
FAM160B1	57700	broad.mit.edu	37	chr10	116608431	116608431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtctggtaccggatgacGcaaaatcctcctaccatgtt	8	12	2	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:116608431G>A	ENST00000369248.4	+	13	2073	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A580T	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	580										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACCGGATGACGCAAAATCCTC	0.403													False	0	False	10:116608431	0	A	116608431	G	A	116608431	3	1	118	1	0	0	0	0	1	0	0	0	5506	1087	38	1	1788	1	FAM160B1	10	116608431	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	11425668	116608431	18926316	55	31554											
LRRC55	219527	broad.mit.edu	37	chr11	56950145	56950145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgaaaccggatccagCgctgtacagcaggtaataga	13	10	0	1	rs143027441	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:56950145C>T	ENST00000497933.1	+	1	925	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	230	LRRCT.					integral to membrane		p.R260C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCGGATCCAGCGCTGTACAGC	0.607													False	0	False	11:56950145	0	T	56950145	C	T	56950145	3	4	118	1	0	0	0	0	1	0	0	0	9073	768	27	1	780	1	LRRC55	11	56950145	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08		56950145	78056371	56	31555											
STIP1	10963	broad.mit.edu	37	chr11	63971050	63971050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagtgacccagccatgcgCcttatcctggaacagatgca	10	12	0	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:63971050C>T	ENST00000358794.5	+	13	2209	c.1656C>T	c.(1654-1656)cgC>cgT	p.R552R	STIP1_ENST00000538945.1_Silent_p.R481R|STIP1_ENST00000305218.4_Silent_p.R505R			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	505					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CAGCCATGCGCCTTATCCTGG	0.582													False	0	False	11:63971050	0	T	63971050	C	T	63971050	2	4	118	1	0	0	0	0	0	0	0	1	15367	726	26	2		2	STIP1	11	63971050	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	7020905	63971050	71035466	57	31556											
MUS81	80198	broad.mit.edu	37	chr11	65630663	65630663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagcagtgccaggagcaGcttcagcagagctgtgagga	15	9	1	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:65630663G>A	ENST00000308110.4	+	7	1082	c.733G>A	c.(733-735)Gct>Act	p.A245T	MUS81_ENST00000533035.1_Missense_Mutation_p.A170T	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	245					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GCCAGGAGCAGCTTCAGCAGA	0.637								Homologous recombination					False	0	False	11:65630663	0	A	65630663	G	A	65630663	3	1	118	1	0	0	0	0	1	0	0	0	10055	971	34	2	759	2	MUS81	11	65630663	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	1659613	65630663	69375853	58	31557											
POU2AF1	5450	broad.mit.edu	37	chr11	111225288	111225288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccccactgcgggcgtggCggagcttcttgtctgtgaca	16	12	2	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:111225288C>T	ENST00000393067.3	-	5	983	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	157					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCGGGCGTGGCGGAGCTTCTT	0.642			T	BCL6	NHL								False	0	False	11:111225288	0	T	111225288	C	T	111225288	3	4	118	1	0	0	0	0	1	0	0	0	12339	768	27	1	305	1	POU2AF1	11	111225288	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	45594625	111225288	23781228	59	31558											
PCSK7	9159	broad.mit.edu	37	chr11	117090363	117090363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccacgtgaggcagggccGcacctgcagcattaaggcta	13	13	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:117090363G>A	ENST00000320934.3	-	10	1897	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	PCSK7_ENST00000540028.1_Missense_Mutation_p.R64W	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	423	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGGCAGGGCCGCACCTGCAGC	0.627			T	IGH@	MLCLS								False	0	False	11:117090363	0	A	117090363	G	A	117090363	3	1	118	1	0	0	0	0	1	0	0	0	11673	1086	38	1	1122	1	PCSK7	11	117090363	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	5865075	117090363	17916153	60	31559											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	118	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08		25398285	108453610	61	31560											
LRP1	4035	broad.mit.edu	37	chr12	57554894	57554894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctcaatggcacagaccGgaaggtgggcaggcatgtgc	15	10	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:57554894G>A	ENST00000243077.3	+	13	2664	c.2198G>A	c.(2197-2199)cGg>cAg	p.R733Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	733					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCACAGACCGGAAGGTGGGC	0.582													False	0	False	12:57554894	0	A	57554894	G	A	57554894	3	1	118	1	0	0	0	0	1	0	0	0	9013	1116	39	1	2248	1	LRP1	12	57554894	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	32156609	57554894	76297001	62	31561											
MYF5	4617	broad.mit.edu	37	chr12	81110965	81110965	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtggctgccttcggagcGcacaaagcagagctgcaggg	16	11	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:81110965G>A	ENST00000228644.3	+	1	275	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	41					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCTTCGGAGCGCACAAAGCAG	0.617													False	0	False	12:81110965	0	A	81110965	G	A	81110965	2	1	118	1	0	0	0	0	0	0	0	1	10094	1074	38	1		1	MYF5	12	81110965	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	23556071	81110965	52740930	63	31562											
DDX55	57696	broad.mit.edu	37	chr12	124090516	124090516	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatgcgaaacaaagatgtCgctgcagaagcggtgagtgc	13	8	1	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:124090516C>T	ENST00000238146.4	+	2	197	c.147C>T	c.(145-147)gtC>gtT	p.V49V	DDX55_ENST00000538744.1_Silent_p.V49V	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	49	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ACAAAGATGTCGCTGCAGAAG	0.498													False	0	False	12:124090516	0	T	124090516	C	T	124090516	2	4	118	1	0	0	0	0	0	0	0	1	4398	871	31	1		1	DDX55	12	124090516	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	42979551	124090516	9761379	64	31563											
MYO16	23026	broad.mit.edu	37	chr13	109779791	109779791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcctcccgtctccacGgaaacagcccccgcccaagc	8	21	1	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr13:109779791G>A	ENST00000356711.2	+	31	4004	c.3878G>A	c.(3877-3879)cGg>cAg	p.R1293Q	MYO16_ENST00000357550.2_Missense_Mutation_p.R1293Q|MYO16_ENST00000457511.2_Missense_Mutation_p.R805Q	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1293					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCGTCTCCACGGAAACAGCCC	0.662													False	0	False	13:109779791	0	A	109779791	G	A	109779791	3	1	118	1	0	0	0	0	1	0	0	0	10131	1116	39	1	3996	1	MYO16	13	109779791	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		109779791	5390087	65	31564											
TFDP1	7027	broad.mit.edu	37	chr13	114277494	114277494	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgtccttgtgttgcaGgcgtggtgtccctcgtggcc	15	12	0	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr13:114277494G>T	ENST00000375370.5	+	4	291		c.e4-1		TFDP1_ENST00000465174.1_Splice_Site|TFDP1_ENST00000538138.1_Splice_Site|TFDP1_ENST00000544902.1_Splice_Site	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1						cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTGTGTTGCAGGCGTGGTGTC	0.532										TSP Lung(29;0.18)			False	0	False	13:114277494	0	T	114277494	G	T	114277494	5	4	118	1	0	0	0	0	0	0	1	0	15879	1014	35	3	89	3	TFDP1	13	114277494	Splice_Site	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	4497703	114277494	892384	66	31565											
TOX4	9878	broad.mit.edu	37	chr14	21961173	21961173	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttaccattctgcagcagccTcctccactccaggccatgca	7	17	1	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:21961173T>C	ENST00000405508.1	+	8	1674	c.1398T>C	c.(1396-1398)ccT>ccC	p.P466P	TOX4_ENST00000448790.2_Silent_p.P443P|TOX4_ENST00000262709.3_Silent_p.P466P			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	466	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TGCAGCAGCCTCCTCCACTCC	0.552													False	0	False	14:21961173	0	C	21961173	T	C	21961173	2	2	118	1	0	0	0	0	0	0	0	1	16463	1538	54	4		4	TOX4	14	21961173	Silent	SNP	T	TCGA-IB-AAUU-01A-11D-A377-08		21961173	85388367	67	31566											
LTB4R2	56413	broad.mit.edu	37	chr14	24780173	24780173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcggtgtactacgtgtgCgcgctcagcatgtacgccag	14	11	1	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:24780173C>T	ENST00000528054.1	+	1	2013	c.396C>T	c.(394-396)tgC>tgT	p.C132C	LTB4R2_ENST00000533293.1_Silent_p.C101C|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000543919.1_Silent_p.C101C|CIDEB_ENST00000336557.5_5'UTR|CIDEB_ENST00000555817.1_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	132					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		ACTACGTGTGCGCGCTCAGCA	0.721													False	0	True	14:24780173	0	T	24780173	C	T	24780173	2	4	118	1	0	0	0	0	0	0	0	1	9134	776	27	1		1	LTB4R2	14	24780173	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	2819000	24780173	82569367	68	31567											
L2HGDH	79944	broad.mit.edu	37	chr14	50704423	50704423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctgccatagccagctcGgtcctctcacagccacctgc	9	17	1	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:50704423G>A	ENST00000261699.4	-	10	1234	c.1217C>T	c.(1216-1218)cCg>cTg	p.P406L				Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	401					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TAGCCAGCTCGGTCCTCTCAC	0.517													False	0	False	14:50704423	0	A	50704423	G	A	50704423	3	1	118	1	0	0	0	0	1	0	0	0	8641	1131	39	1		1	L2HGDH	14	50704423	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	25924250	50704423	56645117	69	31568											
MAP3K9	4293	broad.mit.edu	37	chr14	71209085	71209085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagaagggaggctgatgCggttgccatccttgagcttc	14	10	0	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:71209085C>T	ENST00000554752.2	-	6	1549	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R211H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R254H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R517H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R517H			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	517				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAGGCTGATGCGGTTGCCATC	0.602													False	0	False	14:71209085	0	T	71209085	C	T	71209085	3	4	118	1	0	0	0	0	1	0	0	0	9324	768	27	1	1838	1	MAP3K9	14	71209085	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	20504662	71209085	36140455	70	31569											
YLPM1	56252	broad.mit.edu	37	chr14	75276279	75276279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcagctgtagaacaggaacGatgggatgaagattctttct	11	6	3	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:75276279G>A	ENST00000325680.7	+	7	4842	c.4718G>A	c.(4717-4719)cGa>cAa	p.R1573Q	YLPM1_ENST00000552421.1_Missense_Mutation_p.R867Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1378Q	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1378	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAACAGGAACGATGGGATGAA	0.478													False	0	False	14:75276279	0	A	75276279	G	A	75276279	3	1	118	1	0	0	0	0	1	0	0	0	17570	1058	37	1	4744	1	YLPM1	14	75276279	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	4067194	75276279	32073261	71	31570											
OCA2	4948	broad.mit.edu	37	chr15	28211955	28211955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgtgtgcagtgaatccgGcaaagtccaggccctggaaa	12	10	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:28211955G>A	ENST00000354638.3	-	15	1672	c.1517C>T	c.(1516-1518)gCc>gTc	p.A506V	OCA2_ENST00000353809.5_Missense_Mutation_p.A482V|OCA2_ENST00000382996.2_Missense_Mutation_p.A506V	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	506					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGTGAATCCGGCAAAGTCCAG	0.507									Oculocutaneous Albinism				False	0	False	15:28211955	0	A	28211955	G	A	28211955	3	1	118	1	0	0	0	0	1	0	0	0	10883	1203	42	2	1039	2	OCA2	15	28211955	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		28211955	74319437	72	31571											
HERC2	8924	broad.mit.edu	37	chr15	28517442	28517442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaagggcaaaagtggggcGctggtgccctgggcggaacg	19	9	0	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:28517442G>A	ENST00000261609.7	-	9	1110	c.1002C>T	c.(1000-1002)agC>agT	p.S334S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	334					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAAGTGGGGCGCTGGTGCCCT	0.567													False	0	False	15:28517442	0	A	28517442	G	A	28517442	2	1	118	1	0	0	0	0	0	0	0	1	7105	1078	38	1		1	HERC2	15	28517442	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	305487	28517442	74013950	73	31572											
CHRNA7	1139	broad.mit.edu	37	chr15	32460285	32460285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgtggcgccgccgcccGccagcaacgggaacctgctg	15	18	0	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:32460285G>A	ENST00000306901.3	+	10	1232	c.1135G>A	c.(1135-1137)Gcc>Acc	p.A379T	CHRNA7_ENST00000455693.2_Missense_Mutation_p.A198T|CHRNA7_ENST00000454250.3_Missense_Mutation_p.A408T	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	379					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GCCGCCGCCCGCCAGCAACGG	0.716													False	0	True	15:32460285	0	A	32460285	G	A	32460285	3	1	118	1	0	0	0	0	1	0	0	0	3411	1087	38	1	1173	1	CHRNA7	15	32460285	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	3942843	32460285	70071107	74	31573											
DET1	55070	broad.mit.edu	37	chr15	89070834	89070834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggaacagcttaccggcGctggatctgccttgcaaaat	12	10	1	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:89070834G>A	ENST00000564406.1	-	4	1460	c.1300C>T	c.(1300-1302)Cgc>Tgc	p.R434C	DET1_ENST00000268148.8_Missense_Mutation_p.R423C|DET1_ENST00000444300.1_Missense_Mutation_p.R434C	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	423						nucleus		p.R434C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCTTACCGGCGCTGGATCTGC	0.443													False	0	False	15:89070834	0	A	89070834	G	A	89070834	3	1	118	1	0	0	0	0	1	0	0	0	4480	1087	38	1	397	1	DET1	15	89070834	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	56610549	89070834	13460558	75	31574											
LRRK1	79705	broad.mit.edu	37	chr15	101586241	101586241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggacacccacggtatgCggcaccccacagccaacacc	9	19	0	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:101586241C>T	ENST00000284395.5	+	22	3410	c.3010C>T	c.(3010-3012)Cgg>Tgg	p.R1004W	RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.R1007W			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1007					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCACGGTATGCGGCACCCCAC	0.562													False	0	False	15:101586241	0	T	101586241	C	T	101586241	3	4	118	1	0	0	0	0	1	0	0	0	9094	759	27	1	3097	1	LRRK1	15	101586241	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	12515407	101586241	945151	76	31575											
FAM86A	196483	broad.mit.edu	37	chr16	5135684	5135684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgctcttcgtagggaaaCagtttctgctcatgacgagg	12	8	3	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:5135684C>T	ENST00000427587.4	-	8	1010	c.942G>A	c.(940-942)ctG>ctA	p.L314L	FAM86A_ENST00000587133.1_Silent_p.L253L|FAM86A_ENST00000458008.4_Silent_p.L280L|ALG1_ENST00000592661.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	314										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CGTAGGGAAACAGTTTCTGCT	0.527													False	0	True	16:5135684	0	T	5135684	C	T	5135684	2	4	118	1	0	0	0	0	0	0	0	1	5683	465	17	2		2	FAM86A	16	5135684	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08		5135684	85219069	77	31576											
RBL2	5934	broad.mit.edu	37	chr16	53488732	53488733	+	Frame_Shift_Ins	INS	-	-	A													agggtgcagatgaaaaacatINScttacagcagcattttgaca							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:53488732_53488733insA	ENST00000262133.6	+	8	1294_1295	c.1157_1158insA	c.(1156-1161)atcttafs	p.IL386fs	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Frame_Shift_Ins_p.IL170fs	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	386					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATGAAAAACATCTTACAGCAGC	0.441													False	0	False	16:53488732	0	A	53488733	-	A	53488732	7	5	118	1	0	1	1	0	0	0	0	0	13189	1435	50	0	1187	0	RBL2	16	53488732	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	48353048	53488732	36866021	78	31577	374	2									
RBL2	5934	broad.mit.edu	37	chr16	53488733	53488734	+	In_Frame_Ins	INS	-	-	TCCTCATAGGCCTTATTGATGGCT													gggtgcagatgaaaaacatcINSttacagcagcattttgacaa							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:53488733_53488734insTCCTCATAGGCCTTATTGATGGCT	ENST00000262133.6	+	8	1295_1296	c.1158_1159insTCCTCATAGGCCTTATTGATGGCT	c.(1159-1161)tta>TCCTCATAGGCCTTATTGATGGCTtta	p.386_387insSS*ALLMA	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_In_Frame_Ins_p.170_171insSS*ALLMA	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	386					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGAAAAACATCTTACAGCAGCA	0.441													False	0	False	16:53488733	0	TCCTCATAGGCCTTATTGATGGCT	53488734	-	TCCTCATAGGCCTTATTGATGGCT	53488733	7	5	118	1	0	1	1	0	0	0	0	0	13189	903	32	0	1188	0	RBL2	16	53488733	In_Frame_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	1	53488733	36866020	79	31578	374	2									
SLC12A3	0	broad.mit.edu	37	chr16	56920974	56920974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcggatgtcattgccgaggAcctccgcagaggcgtccaga	13	13	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:56920974A>G	ENST00000438926.2	+	17	2176	c.2147A>G	c.(2146-2148)gAc>gGc	p.D716G	SLC12A3_ENST00000262502.5_Missense_Mutation_p.D715G|SLC12A3_ENST00000566786.1_Missense_Mutation_p.D715G|SLC12A3_ENST00000563236.1_Missense_Mutation_p.D716G	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	716					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ATTGCCGAGGACCTCCGCAGA	0.582													False	0	False	16:56920974	0	G	56920974	A	G	56920974	3	3	118	1	0	0	0	0	1	0	0	0	14465	275	10	4	2213	4	SLC12A3	16	56920974	Missense_Mutation	SNP	A	TCGA-IB-AAUU-01A-11D-A377-08	3432241	56920974	33433779	80	31579											
HYDIN	54768	broad.mit.edu	37	chr16	70908762	70908762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgatgtagatatacgCggtggtgggcctccctttca	12	10	2	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:70908762C>T	ENST00000393567.2	-	63	10768	c.10618G>A	c.(10618-10620)Gcg>Acg	p.A3540T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3540										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TAGATATACGCGGTGGTGGGC	0.507													False	0	False	16:70908762	0	T	70908762	C	T	70908762	3	4	118	1	0	0	0	0	1	0	0	0	7517	768	27	1	4843	1	HYDIN	16	70908762	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	13987788	70908762	19445991	81	31580											
IRF8	3394	broad.mit.edu	37	chr16	85946826	85946826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttccagactggtgggcGcagcagcccagcacaggtga	13	14	0	2	rs146360039	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:85946826G>A	ENST00000268638.5	+	5	959	c.537G>A	c.(535-537)gcG>gcA	p.A179A		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	179					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ACTGGTGGGCGCAGCAGCCCA	0.617													False	0	False	16:85946826	0	A	85946826	G	A	85946826	2	1	118	1	0	0	0	0	0	0	0	1	7886	1074	38	1		1	IRF8	16	85946826	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	15038064	85946826	4407927	82	31581											
TP53	7157	broad.mit.edu	37	chr17	7579320	7579321	+	Frame_Shift_Ins	INS	-	-	C													gggcaactgaccgtgcaagtINScacagacttggctgtcccag							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:7579320_7579321insC	ENST00000420246.2	-	4	498_499	c.366_367insG	c.(364-369)gtgactfs	p.T123fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.T123fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.T123fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.T123fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	123	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> I (in a sporadic cancer; somatic mutation).|T -> N (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACCGTGCAAGTCACAGACTTGG	0.55		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)			False	1	False	17:7579320	0	C	7579321	-	C	7579320	7	5	118	1	0	1	1	0	0	0	0	0	16464	1667	58	0	935	0	TP53	17	7579320	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08		7579320	73615890	83	31582											
DNAH2	146754	broad.mit.edu	37	chr17	7727588	7727588	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccagggccaggcccccatCgctgctcggctcctccgaga	13	18	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:7727588C>T	ENST00000572933.1	+	76	13088	c.11628C>T	c.(11626-11628)atC>atT	p.I3876I	DNAH2_ENST00000389173.2_Silent_p.I3876I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3876	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCCCCCATCGCTGCTCGGC	0.652													False	0	False	17:7727588	0	T	7727588	C	T	7727588	2	4	118	1	0	0	0	0	0	0	0	1	4632	874	31	1		1	DNAH2	17	7727588	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	148268	7727588	73467622	84	31583											
COASY	80347	broad.mit.edu	37	chr17	40714771	40714771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgttcacctgcagccggGcatgagcctggagggcccgg	15	13	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:40714771G>A	ENST00000393818.2	+	1	587	c.131G>A	c.(130-132)gGc>gAc	p.G44D	COASY_ENST00000449624.1_Intron|COASY_ENST00000590958.1_Missense_Mutation_p.G73D|COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000420359.1_Missense_Mutation_p.G44D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	44					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTGCAGCCGGGCATGAGCCTG	0.662													False	0	True	17:40714771	0	A	40714771	G	A	40714771	3	1	118	1	0	0	0	0	1	0	0	0	3675	1203	42	2	224	2	COASY	17	40714771	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	32987183	40714771	40480439	85	31584											
DHX8	1659	broad.mit.edu	37	chr17	41570293	41570293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggaatctggatagatggCgggataagcatgtggaccgc	16	7	1	1	rs146727331		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:41570293C>T	ENST00000262415.3	+	6	820	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	DHX8_ENST00000540306.1_Missense_Mutation_p.R250W	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	250						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGATAGATGGCGGGATAAGCA	0.507													False	0	True	17:41570293	0	T	41570293	C	T	41570293	3	4	118	1	0	0	0	0	1	0	0	0	4545	759	27	1	770	1	DHX8	17	41570293	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	855522	41570293	39624917	86	31585											
TANC2	26115	broad.mit.edu	37	chr17	61483573	61483573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcagacaagcagggccGcactcccctgatgatggctg	13	13	0	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:61483573G>A	ENST00000424789.2	+	19	3306	c.3302G>A	c.(3301-3303)cGc>cAc	p.R1101H	AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1101H	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1101							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AAGCAGGGCCGCACTCCCCTG	0.512											OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:61483573	0	A	61483573	G	A	61483573	3	1	118	1	0	0	0	0	1	0	0	0	15627	1087	38	1	3376	1	TANC2	17	61483573	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	19913280	61483573	19711637	87	31586											
HMG20B	10362	broad.mit.edu	37	chr19	3574395	3574395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagccggtgaagaaacgCggctggcccaagggcaagaa	15	11	0	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:3574395C>T	ENST00000333651.6	+	4	237	c.162C>T	c.(160-162)cgC>cgT	p.R54R		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	54					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGAAACGCGGCTGGCCCA	0.672													False	0	False	19:3574395	0	T	3574395	C	T	3574395	2	4	118	1	0	0	0	0	0	0	0	1	7269	755	27	1		1	HMG20B	19	3574395	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08		3574395	55554588	88	31587											
CACNA1A	773	broad.mit.edu	37	chr19	13414635	13414635	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaacaccatgccgccctGcacgcccccctgagacttga	10	17	0	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:13414635G>A	ENST00000360228.5	-	16	2049	c.2050C>T	c.(2050-2052)Cag>Tag	p.Q684*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.Q685*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	685					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATGCCGCCCTGCACGCCCCCC	0.562													False	0	False	19:13414635	0	A	13414635	G	A	13414635	4	1	118	1	0	0	0	0	0	1	0	0	2558	1328	46	2	5709	2	CACNA1A	19	13414635	Nonsense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	9840240	13414635	45714348	89	31588											
PSG6	5675	broad.mit.edu	37	chr19	43420517	43420517	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaccagatgtagccagTaagattctggggcaaattgt	11	6	1	2	rs140507212		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:43420517T>C	ENST00000187910.2	-	2	252	c.187A>G	c.(187-189)Act>Gct	p.T63A	PSG6_ENST00000402603.4_Missense_Mutation_p.T63A|PSG6_ENST00000292125.2_Missense_Mutation_p.T63A|PSG6_ENST00000601833.1_5'UTR	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ATGTAGCCAGTAAGATTCTGG	0.463													False	0	False	19:43420517	0	C	43420517	T	C	43420517	3	2	118	1	0	0	0	0	1	0	0	0	12735	1638	57	4	1179	4	PSG6	19	43420517	Missense_Mutation	SNP	T	TCGA-IB-AAUU-01A-11D-A377-08	30005882	43420517	15708466	90	31589											
ERCC2	2068	broad.mit.edu	37	chr19	45867502	45867502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggccccacctgagcaccGtcttctgcagggtctccagg	11	18	3	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:45867502G>A	ENST00000391945.4	-	9	883	c.806C>T	c.(805-807)aCg>aTg	p.T269M	ERCC2_ENST00000391944.3_Missense_Mutation_p.T191M|ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000485403.2_Missense_Mutation_p.T245M|ERCC2_ENST00000391940.4_Missense_Mutation_p.T245M	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	269	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCTGAGCACCGTCTTCTGCAG	0.692			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	19:45867502	0	A	45867502	G	A	45867502	3	1	118	1	0	0	0	0	1	0	0	0	5245	1145	40	1	1593	1	ERCC2	19	45867502	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	2446985	45867502	13261481	91	31590											
KLK4	9622	broad.mit.edu	37	chr19	51411880	51411880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgaggcaagagttccccgCggtagggcactgcgaagcaa	14	11	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:51411880C>T	ENST00000324041.1	-	3	429	c.430G>A	c.(430-432)Gcg>Acg	p.A144T	KLK4_ENST00000431178.2_Missense_Mutation_p.A95T	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	144	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GAGTTCCCCGCGGTAGGGCAC	0.602													False	0	False	19:51411880	0	T	51411880	C	T	51411880	3	4	118	1	0	0	0	0	1	0	0	0	8456	768	27	1	346	1	KLK4	19	51411880	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	5544378	51411880	7717103	92	31591											
PREX1	57580	broad.mit.edu	37	chr20	47262580	47262580	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccacccgaggtgggctctgtGatggtggacagcagcctacg	15	12	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr20:47262580G>A	ENST00000396220.1	-	26	3343	c.3321C>T	c.(3319-3321)atC>atT	p.I1107I	PREX1_ENST00000371941.3_Silent_p.I1107I			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1107					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGGCTCTGTGATGGTGGACA	0.597													False	0	False	20:47262580	0	A	47262580	G	A	47262580	2	1	118	1	0	0	0	0	0	0	0	1	12552	1280	45	2		2	PREX1	20	47262580	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		47262580	15762940	93	31592											
BACH1	571	broad.mit.edu	37	chr21	30699086	30699086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctttcccccacaattcttCcatagaccctcatggacttt	3	16	2	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr21:30699086C>T	ENST00000399921.1	+	3	1184	c.941C>T	c.(940-942)tCc>tTc	p.S314F	BACH1_ENST00000286800.3_Missense_Mutation_p.S314F	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	314			S -> P (in dbSNP:rs35474725).			nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						CACAATTCTTCCATAGACCCT	0.388													False	0	False	21:30699086	0	T	30699086	C	T	30699086	3	4	118	1	0	0	0	0	1	0	0	0	1287	855	30	2	947	2	BACH1	21	30699086	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08		30699086	17430809	94	31593											
DIP2A	23181	broad.mit.edu	37	chr21	47976980	47976980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccctgtggtgtctgtgCaggtgagtgcagggcccctg	16	10	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr21:47976980C>T	ENST00000318711.7	+	30	3813	c.3630C>T	c.(3628-3630)tgC>tgT	p.C1210C	DIP2A_ENST00000400274.1_Silent_p.C1205C|DIP2A_ENST00000417564.2_Silent_p.C1209C	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1209					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGTGTCTGTGCAGGTGAGTGC	0.612													False	0	False	21:47976980	0	T	47976980	C	T	47976980	2	4	118	1	0	0	0	0	0	0	0	1	4557	718	25	2		2	DIP2A	21	47976980	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	17277894	47976980	152915	95	31594											
ACR	49	broad.mit.edu	37	chr22	51182600	51182600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagccaaccaatgtgtgcgCggggtatcctgtaggcaaga	13	10	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr22:51182600C>T	ENST00000216139.5	+	4	717	c.677C>T	c.(676-678)gCg>gTg	p.A226V	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	226	Peptidase S1.			A -> V (in Ref. 3).	acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		AATGTGTGCGCGGGGTATCCT	0.577													False	0	True	22:51182600	0	T	51182600	C	T	51182600	3	4	118	1	0	0	0	0	1	0	0	0	169	768	27	1	691	1	ACR	22	51182600	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08		51182600	121966	96	31595											
FAM47C	442444	broad.mit.edu	37	chrX	37026745	37026745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctctcagaggtccccaaGctgaccccaaaagcaggaag	9	13	2	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:37026745G>A	ENST00000358047.3	+	1	314	c.262G>A	c.(262-264)Gct>Act	p.A88T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	88										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGGTCCCCAAGCTGACCCCAA	0.532													False	0	False	X:37026745	0	A	37026745	G	A	37026745	3	1	118	1	0	0	0	0	1	0	0	0	5611	971	34	2	264	2	FAM47C	23	37026745	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		37026745	118243815	97	31596											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	18	6	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:112058796C>T	ENST00000371959.3	-	2	1181	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371958.1_Silent_p.Q162Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582													False	0	True	X:112058796	0	T	112058796	C	T	112058796	2	4	118	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	75032051	112058796	43211764	98	31597											
VGLL1	51442	broad.mit.edu	37	chrX	135630884	135630884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgaatcagttctcaccGtccctggctaggagggcctc	12	13	2	1	rs151216817		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:135630884G>A	ENST00000370634.3	+	3	521	c.351G>A	c.(349-351)ccG>ccA	p.P117P		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					AGTTCTCACCGTCCCTGGCTA	0.592													False	0	False	X:135630884	0	A	135630884	G	A	135630884	2	1	118	1	0	0	0	0	0	0	0	1	17242	1132	40	1		1	VGLL1	23	135630884	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	23572088	135630884	19639676	99	31598											
GNB1	2782	broad.mit.edu	37	chr1	1722012	1722012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaacgtggtcgtctgctggCcggtctcgatgtcccacagg	13	12	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:1722012C>T	ENST00000378609.4	-	9	852	c.521G>A	c.(520-522)gGc>gAc	p.G174D		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	174					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CGTCTGCTGGCCGGTCTCGAT	0.542													False	0	False	1:1722012	0	T	1722012	C	T	1722012	3	4	119	1	0	0	0	0	1	0	0	0	6560	739	26	2	513	2	GNB1	1	1722012	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		1722012	247528609	1	31599											
CROCC	9696	broad.mit.edu	37	chr1	17271988	17271988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagcagctggaagggaagCgctcagtcctggccaaggag	16	9	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:17271988C>T	ENST00000375541.5	+	15	2092	c.2023C>T	c.(2023-2025)Cgc>Tgc	p.R675C	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	675					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGAAGGGAAGCGCTCAGTCCT	0.642													False	0	False	1:17271988	0	T	17271988	C	T	17271988	3	4	119	1	0	0	0	0	1	0	0	0	3916	768	27	1	2081	1	CROCC	1	17271988	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	15549976	17271988	231978633	2	31600											
CDC42	998	broad.mit.edu	37	chr1	22416480	22416480	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggctatcctagctgccctCgagcctccggaaactcaacc	9	16	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:22416480C>T	ENST00000315554.8	+	6	635	c.531C>T	c.(529-531)ctC>ctT	p.L177L	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000421089.2_Intron|CDC42_ENST00000400259.1_Intron|CDC42_ENST00000344548.3_Intron	NM_044472.2	NP_426359.1	P60953	CDC42_HUMAN	cell division cycle 42	177					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TAGCTGCCCTCGAGCCTCCGG	0.473													False	0	False	1:22416480	0	T	22416480	C	T	22416480	2	4	119	1	0	0	0	0	0	0	0	1	3094	871	31	1		1	CDC42	1	22416480	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	5144492	22416480	226834141	3	31601											
RHCE	6006	broad.mit.edu	37	chr1	25717263	25717263	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgatcttcctttgggggtGagccaaggatgaccctgaga	14	9	1	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:25717263G>A	ENST00000349320.3	-	7	1118	c.730C>T	c.(730-732)Cac>Tac	p.H244Y	RHCE_ENST00000243186.6_Missense_Mutation_p.H260Y|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.H244Y|RHCE_ENST00000294413.7_Missense_Mutation_p.H260Y|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000425135.1_Missense_Mutation_p.H260Y|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000413854.1_Missense_Mutation_p.H260Y|RHCE_ENST00000349438.4_Missense_Mutation_p.H260Y			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	260						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTGGGGGTGAGCCAAGGAT	0.537													False	0	False	1:25717263	0	A	25717263	G	A	25717263	3	1	119	1	0	0	0	0	1	0	0	0	13404	1290	45	2	499	2	RHCE	1	25717263	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3300783	25717263	223533358	4	31602											
JAK1	3716	broad.mit.edu	37	chr1	65310517	65310517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcactgtcgatgccctcaCgggccaggaggaggttttta	12	11	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:65310517C>T	ENST00000342505.4	-	16	2419	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	724	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GATGCCCTCACGGGCCAGGAG	0.542			Mis		ALL								False	0	True	1:65310517	0	T	65310517	C	T	65310517	3	4	119	1	0	0	0	0	1	0	0	0	7987	536	19	1	1333	1	JAK1	1	65310517	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	39593254	65310517	183940104	5	31603											
NEGR1	257194	broad.mit.edu	37	chr1	72400859	72400859	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtcacatctacattctgtatCtggaggctgtagtccctttt	8	10	4	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:72400859C>G	ENST00000357731.5	-	2	551	c.312G>C	c.(310-312)caG>caC	p.Q104H	NEGR1_ENST00000434200.1_Missense_Mutation_p.Q102H|NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1		Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CATTCTGTATCTGGAGGCTGT	0.443													False	0	False	1:72400859	0	G	72400859	C	G	72400859	3	3	119	1	0	0	0	0	1	0	0	0	10385	912	32	5	776	5	NEGR1	1	72400859	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	7090342	72400859	176849762	6	31604											
COL24A1	255631	broad.mit.edu	37	chr1	86313406	86313406	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcccaatttttccaggaGgacctctgcttccaacttct	5	13	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:86313406G>T	ENST00000370571.2	-	39	3770	c.3404C>A	c.(3403-3405)cCt>cAt	p.P1135H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1135H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1135	Collagen-like 11.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTCCAGGAGGACCTCTGCT	0.428													False	0	False	1:86313406	0	T	86313406	G	T	86313406	3	4	119	1	0	0	0	0	1	0	0	0	3706	1000	35	3	1828	3	COL24A1	1	86313406	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	13912547	86313406	162937215	7	31605											
DBT	1629	broad.mit.edu	37	chr1	100701025	100701025	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttacttctctaatcccttctCcaatgtctgagagcttgaac	5	12	3	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:100701025C>G	ENST00000370132.4	-	3	231	c.218G>C	c.(217-219)gGa>gCa	p.G73A	DBT_ENST00000370131.3_Missense_Mutation_p.G73A	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2		Lipoyl-binding.				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AATCCCTTCTCCAATGTCTGA	0.289													False	0	False	1:100701025	0	G	100701025	C	G	100701025	3	3	119	1	0	0	0	0	1	0	0	0	4283	855	30	5	1266	5	DBT	1	100701025	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	14387619	100701025	148549596	8	31606											
ADORA3	140	broad.mit.edu	37	chr1	112033386	112033386	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcccaggaattctgaatcTgtttaagggaaacagatatg	11	6	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:112033386T>C	ENST00000369716.4	-	2	484		c.e2-2		ADORA3_ENST00000369717.4_Splice_Site	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor						activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATTCTGAATCTGTTTAAGGGA	0.448													False	0	False	1:112033386	0	C	112033386	T	C	112033386	5	2	119	1	0	0	0	0	0	0	1	0	329	1594	55	4	714	4	ADORA3	1	112033386	Splice_Site	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	11332361	112033386	137217235	9	31607											
OTUD7B	56957	broad.mit.edu	37	chr1	149916371	149916371	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgcttctgttctgccagGaatctctcctcagcatcaga	7	13	6	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:149916371G>A	ENST00000369135.4	-	12	2211	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTTCTGCCAGGAATCTCTCCT	0.517													False	0	False	1:149916371	0	A	149916371	G	A	149916371	2	1	119	1	0	0	0	0	0	0	0	1	11387	1165	41	2		2	OTUD7B	1	149916371	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	37882985	149916371	99334250	10	31608											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	119	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-LB-A7SX-01A-11D-A33T-08	2755144	152671515	96579106	11	31609											
CLK2	1196	broad.mit.edu	37	chr1	155233761	155233761	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccgcagcggtttgcagttctCacgaacatagcgcccagctg	11	14	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:155233761C>G	ENST00000368361.4	-	12	1612	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	CLK2_ENST00000536801.1_Missense_Mutation_p.E433Q|CLK2_ENST00000355560.4_Missense_Mutation_p.E431Q|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.E432Q			P49760	CLK2_HUMAN	CDC-like kinase 2	433	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTGCAGTTCTCACGAACATAG	0.542								Other conserved DNA damage response genes					False	0	False	1:155233761	0	G	155233761	C	G	155233761	3	3	119	1	0	0	0	0	1	0	0	0	3560	835	29	5	210	5	CLK2	1	155233761	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2562246	155233761	94016860	12	31610											
MNDA	4332	broad.mit.edu	37	chr1	158812091	158812091	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaacagaattaagattacaGatttgatggaaaaaaagttc	7	4	0	4	rs140390501		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:158812091G>T	ENST00000368141.4	+	2	409	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	50	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TAAGATTACAGATTTGATGGA	0.338													False	0	False	1:158812091	0	T	158812091	G	T	158812091	3	4	119	1	0	0	0	0	1	0	0	0	9743	942	33	3	150	3	MNDA	1	158812091	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3578330	158812091	90438530	13	31611											
XPR1	9213	broad.mit.edu	37	chr1	180793903	180793903	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttcagctgtatttaaacttGaaacagatagaagtatatgg	8	4	1	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:180793903G>T	ENST00000367590.4	+	8	976	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	XPR1_ENST00000367589.3_Nonsense_Mutation_p.E260*	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	260						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATTTAAACTTGAAACAGATAG	0.328													False	0	True	1:180793903	0	T	180793903	G	T	180793903	4	4	119	1	0	0	0	0	0	1	0	0	17535	1291	45	3	808	3	XPR1	1	180793903	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	21981812	180793903	68456718	14	31612											
SPDYA	245711	broad.mit.edu	37	chr2	29052132	29052132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttaaagttaagggaccagCtctgggatagaattgactat	10	6	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:29052132C>T	ENST00000334056.5	+	6	688	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F	SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Missense_Mutation_p.L167F	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	167	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AAGGGACCAGCTCTGGGATAG	0.348													False	0	False	2:29052132	0	T	29052132	C	T	29052132	3	4	119	1	0	0	0	0	1	0	0	0	15109	797	28	2	513	2	SPDYA	2	29052132	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		29052132	214147241	15	31613											
VIT	5212	broad.mit.edu	37	chr2	36970392	36970392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgtgtggcgctgccGtacacaggtgagtggttctg	16	9	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:36970392G>A	ENST00000379242.3	+	4	570	c.268G>A	c.(268-270)Gta>Ata	p.V90I	VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.V90I|VIT_ENST00000404084.1_Missense_Mutation_p.V68I|VIT_ENST00000389975.3_Missense_Mutation_p.V90I|VIT_ENST00000401530.1_Missense_Mutation_p.V90I|VIT_ENST00000457137.2_Missense_Mutation_p.V90I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	90	LCCL.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGGCGCTGCCGTACACAGGTG	0.473													False	0	False	2:36970392	0	A	36970392	G	A	36970392	3	1	119	1	0	0	0	0	1	0	0	0	17255	1145	40	1	278	1	VIT	2	36970392	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	7918260	36970392	206228981	16	31614											
EIF2AK2	5610	broad.mit.edu	37	chr2	37365423	37365423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatacgataccataagcaacGaagaactgtttaaactgtca	6	8	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:37365423G>A	ENST00000233057.4	-	8	999	c.677C>T	c.(676-678)tCg>tTg	p.S226L	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.S226L|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.S226L	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	226					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CATAAGCAACGAAGAACTGTT	0.358													False	0	False	2:37365423	0	A	37365423	G	A	37365423	3	1	119	1	0	0	0	0	1	0	0	0	5027	1059	37	1	1018	1	EIF2AK2	2	37365423	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	395031	37365423	205833950	17	31615											
SMYD5	10322	broad.mit.edu	37	chr2	73451115	73451115	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaggatctggcctcttTgtgcttcagagctgctgtga	13	8	3	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:73451115T>G	ENST00000389501.4	+	10	969	c.924T>G	c.(922-924)ttT>ttG	p.F308L		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	308	SET.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CTGGCCTCTTTGTGCTTCAGA	0.478													False	0	True	2:73451115	0	G	73451115	T	G	73451115	3	3	119	1	0	0	0	0	1	0	0	0	14905	1809	63	4	962	4	SMYD5	2	73451115	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	36085692	73451115	169748258	18	31616											
DGUOK	1716	broad.mit.edu	37	chr2	74154141	74154141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagaggcctgcacgcggGgcgcgggccccgaaggctct	16	16	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:74154141G>A	ENST00000264093.4	+	1	189	c.104G>A	c.(103-105)gGg>gAg	p.G35E	DGUOK_ENST00000348222.1_Missense_Mutation_p.G35E|DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000356837.6_Missense_Mutation_p.G35E	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	35					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						CTGCACGCGGGGCGCGGGCCC	0.672													False	0	True	2:74154141	0	A	74154141	G	A	74154141	3	1	119	1	0	0	0	0	1	0	0	0	4505	1232	43	2	106	2	DGUOK	2	74154141	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	703026	74154141	169045232	19	31617											
INPP4A	3631	broad.mit.edu	37	chr2	99169316	99169316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagccaaggagatcatcGcccagatcaacaccctgaaa	8	13	3	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:99169316G>A	ENST00000409016.4	+	15	1643	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	INPP4A_ENST00000523221.1_Missense_Mutation_p.A416T|INPP4A_ENST00000545415.1_Missense_Mutation_p.A416T|INPP4A_ENST00000409851.3_Missense_Mutation_p.A411T|INPP4A_ENST00000409540.3_Missense_Mutation_p.A416T|INPP4A_ENST00000074304.5_Missense_Mutation_p.A416T|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGATCATCGCCCAGATCAA	0.517													False	0	True	2:99169316	0	A	99169316	G	A	99169316	3	1	119	1	0	0	0	0	1	0	0	0	7802	1087	38	1	1296	1	INPP4A	2	99169316	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	25015175	99169316	144030057	20	31618											
AFF3	3899	broad.mit.edu	37	chr2	100623429	100623429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttgtttggcccgaggctGctgtctgccaacaccatctc	9	15	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:100623429G>T	ENST00000409236.2	-	5	650	c.538C>A	c.(538-540)Cag>Aag	p.Q180K	AFF3_ENST00000409579.1_Missense_Mutation_p.Q205K|AFF3_ENST00000356421.2_Missense_Mutation_p.Q205K|AFF3_ENST00000317233.4_Missense_Mutation_p.Q180K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCCCGAGGCTGCTGTCTGCCA	0.582													False	0	False	2:100623429	0	T	100623429	G	T	100623429	3	4	119	1	0	0	0	0	1	0	0	0	358	1328	46	3	3218	3	AFF3	2	100623429	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1454113	100623429	142575944	21	31619											
RANBP2	5903	broad.mit.edu	37	chr2	109367778	109367778	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttggcttggcttacagtgGaattcattgcctgctttacc	9	10	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:109367778G>A	ENST00000283195.6	+	10	1458	c.1332G>A	c.(1330-1332)tgG>tgA	p.W444*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	444					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GCTTACAGTGGAATTCATTGC	0.388													False	0	False	2:109367778	0	A	109367778	G	A	109367778	4	1	119	1	0	0	0	0	0	1	0	0	13107	1183	41	2	1370	2	RANBP2	2	109367778	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	8744349	109367778	133831595	22	31620											
MKI67IP	0	broad.mit.edu	37	chr2	122493324	122493325	+	In_Frame_Ins	INS	-	-	TGCTGGGTTATGTGCTTG													taagttgttcttgtttttttINScgctaaagacgtaaagacca							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:122493324_122493325insTGCTGGGTTATGTGCTTG	ENST00000285814.4	-	2	179_180	c.107_108insCAAGCACATAACCCAGCA	c.(106-108)cga>cgCAAGCACATAACCCAGCAa	p.36_37insKHITQQ		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		36					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTTGTTTTTTTCGCTAAAGACG	0.396													False	0	True	2:122493324	0	TGCTGGGTTATGTGCTTG	122493325	-	TGCTGGGTTATGTGCTTG	122493324	7	5	119	1	0	1	1	0	0	0	0	0	9666	1770	62	0	797	0	MKI67IP	2	122493324	In_Frame_Ins	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08	13125546	122493324	120706049	23	31621											
NCKAP5	344148	broad.mit.edu	37	chr2	133887563	133887563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaatacctggagaactgctGctgcaagctacgcatctgaa	9	11	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:133887563G>T	ENST00000409261.1	-	6	701	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	NCKAP5_ENST00000405974.3_Missense_Mutation_p.Q110K|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q110K|NCKAP5_ENST00000409213.1_Missense_Mutation_p.Q110K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	110							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGAACTGCTGCTGCAAGCTA	0.488													False	0	True	2:133887563	0	T	133887563	G	T	133887563	3	4	119	1	0	0	0	0	1	0	0	0	10291	1328	46	3	5461	3	NCKAP5	2	133887563	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	11394239	133887563	109311810	24	31622											
IFIH1	64135	broad.mit.edu	37	chr2	163144827	163144827	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtaaggcctgagctggagttCtggctccggggatgctcttg	16	9	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:163144827C>T	ENST00000263642.2	-	5	1308	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	305					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						AGCTGGAGTTCTGGCTCCGGG	0.478													False	0	False	2:163144827	0	T	163144827	C	T	163144827	3	4	119	1	0	0	0	0	1	0	0	0	7570	922	32	2	2212	2	IFIH1	2	163144827	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	29257264	163144827	80054546	25	31623											
COL3A1	1281	broad.mit.edu	37	chr2	189868505	189868505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcttcctggtcctcctGgtagtaatgtaagtaattgt	11	7	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:189868505G>A	ENST00000304636.3	+	38	2823	c.2653G>A	c.(2653-2655)Ggt>Agt	p.G885S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	885	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTCCTCCTGGTAGTAATGT	0.363													False	0	False	2:189868505	0	A	189868505	G	A	189868505	3	1	119	1	0	0	0	0	1	0	0	0	3711	1348	47	2	2803	2	COL3A1	2	189868505	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	26723678	189868505	53330868	26	31624											
PARD3B	117583	broad.mit.edu	37	chr2	206166502	206166502	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cactcctttgtctgtactcaGaaaaaagcgcacgcttttcc	6	13	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:206166502G>A	ENST00000462231.1	+	19	2839		c.e19-1		PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000406610.2_Intron			Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta						cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCTGTACTCAGAAAAAAGCGC	0.488													False	0	True	2:206166502	0	A	206166502	G	A	206166502	5	1	119	1	0	0	0	0	0	0	1	0	11512	957	33	2		2	PARD3B	2	206166502	Splice_Site	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	16297997	206166502	37032871	27	31625											
PNKD	25953	broad.mit.edu	37	chr2	219204548	219204548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctcgggtacctcttctaCcgacagcagctgcgcagggc	13	14	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:219204548C>T	ENST00000273077.4	+	3	330	c.279C>T	c.(277-279)taC>taT	p.Y93Y	PNKD_ENST00000436005.2_Silent_p.Y33Y|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Silent_p.Y69Y	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	93						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTCTTCTACCGACAGCAGC	0.607													False	0	False	2:219204548	0	T	219204548	C	T	219204548	2	4	119	1	0	0	0	0	0	0	0	1	12215	518	18	2		2	PNKD	2	219204548	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	13038046	219204548	23994825	28	31626											
ARMC9	80210	broad.mit.edu	37	chr2	232104753	232104753	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacttcacgaggcctgggaCggtgaggctctgcgctcagg	17	11	3	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:232104753C>T	ENST00000349938.4	+	9	1072	c.878C>T	c.(877-879)aCg>aTg	p.T293M	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	293							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGGCCTGGGACGGTGAGGCTC	0.522													False	0	False	2:232104753	0	T	232104753	C	T	232104753	5	4	119	1	0	0	0	0	0	0	1	0	962	550	19	1	908	1	ARMC9	2	232104753	Splice_Site	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	12900205	232104753	11094620	29	31627											
SH3BP4	23677	broad.mit.edu	37	chr2	235949825	235949825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccagacgaggtagccaagGagctggagctgctcggggga	18	10	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:235949825G>A	ENST00000409212.1	+	4	919	c.412G>A	c.(412-414)Gag>Aag	p.E138K	SH3BP4_ENST00000392011.2_Missense_Mutation_p.E138K|SH3BP4_ENST00000344528.4_Missense_Mutation_p.E138K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	138					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGTAGCCAAGGAGCTGGAGCT	0.507													False	0	True	2:235949825	0	A	235949825	G	A	235949825	3	1	119	1	0	0	0	0	1	0	0	0	14327	1175	41	2	418	2	SH3BP4	2	235949825	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3845072	235949825	7249548	30	31628											
CHL1	10752	broad.mit.edu	37	chr3	367698	367698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaagttgcctttcccttcGatgagtattttcaaattgaa	6	9	1	2	rs150837773		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:367698G>A	ENST00000256509.2	+	4	790	c.148G>A	c.(148-150)Gat>Aat	p.D50N	CHL1_ENST00000397491.2_Missense_Mutation_p.D50N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	50	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTTCCCTTCGATGAGTATTT	0.333													False	0	False	3:367698	0	A	367698	G	A	367698	3	1	119	1	0	0	0	0	1	0	0	0	3372	1058	37	1	154	1	CHL1	3	367698	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		367698	197654732	31	31629											
ATP2B2	491	broad.mit.edu	37	chr3	10442753	10442753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaggccgtcggcagggAggaggtcacctggcaagagg	19	8	1	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:10442753A>G	ENST00000397077.1	-	7	1240	c.665T>C	c.(664-666)cTc>cCc	p.L222P	ATP2B2_ENST00000360273.2_Missense_Mutation_p.L222P|ATP2B2_ENST00000343816.4_Missense_Mutation_p.L222P|ATP2B2_ENST00000352432.4_Missense_Mutation_p.L222P|ATP2B2_ENST00000383800.4_Missense_Mutation_p.L222P			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	222					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTCGGCAGGGAGGAGGTCACC	0.567													False	0	True	3:10442753	0	G	10442753	A	G	10442753	3	3	119	1	0	0	0	0	1	0	0	0	1144	304	11	4	3142	4	ATP2B2	3	10442753	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	10075055	10442753	187579677	32	31630											
CTNNB1	1499	broad.mit.edu	37	chr3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatccattctggtgccactAccacagctccttctctgagt	7	14	2	1	rs121913412		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGTGCCACTACCACAGCTCC	0.507	T41A(CCK81_LARGE_INTESTINE)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				False	0	False	3:41266124	0	G	41266124	A	G	41266124	3	3	119	1	0	0	0	0	1	0	0	0	4041	391	14	4	127	4	CTNNB1	3	41266124	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	30823371	41266124	156756306	33	31631											
SCAP	22937	broad.mit.edu	37	chr3	47455391	47455391	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacatacaccaggctgagctCactgccaaagttgcagacaa	8	13	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:47455391C>T	ENST00000265565.5	-	23	4205	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	SCAP_ENST00000545718.1_Missense_Mutation_p.E872K|SCAP_ENST00000441517.2_Missense_Mutation_p.E1009K	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1265	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGCTGAGCTCACTGCCAAAG	0.617													False	0	False	3:47455391	0	T	47455391	C	T	47455391	3	4	119	1	0	0	0	0	1	0	0	0	13957	835	29	2	50	2	SCAP	3	47455391	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	6189267	47455391	150567039	34	31632											
BSN	8927	broad.mit.edu	37	chr3	49690204	49690204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcatccgcagcacggcccGcaagacccggcgggacaagg	15	16	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:49690204G>A	ENST00000296452.4	+	5	3329	c.3215G>A	c.(3214-3216)cGc>cAc	p.R1072H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1072					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCACGGCCCGCAAGACCCGG	0.652													False	0	True	3:49690204	0	A	49690204	G	A	49690204	3	1	119	1	0	0	0	0	1	0	0	0	1537	1087	38	1	3233	1	BSN	3	49690204	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2234813	49690204	148332226	35	31633											
PBRM1	55193	broad.mit.edu	37	chr3	52610715	52610715	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaacccatactttttcaattCttggggaggaaaatatataa	7	6	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:52610715C>T	ENST00000356770.4	-	21	3440		c.e21-1		PBRM1_ENST00000409114.3_Splice_Site|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.?(6)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTTTCAATTCTTGGGGAGGA	0.343			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								False	0	False	3:52610715	0	T	52610715	C	T	52610715	5	4	119	1	0	0	0	0	0	0	1	0	11559	927	32	2	1403	2	PBRM1	3	52610715	Splice_Site	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2920511	52610715	145411715	36	31634											
CD96	0	broad.mit.edu	37	chr3	111286413	111286413	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaccatacgatagaaatagaGataaatcagactctggaaat	7	6	2	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:111286413G>C	ENST00000352690.4	+	3	702	c.462G>C	c.(460-462)gaG>gaC	p.E154D	CD96_ENST00000283285.5_Missense_Mutation_p.E154D|CD96_ENST00000438817.2_Missense_Mutation_p.E154D	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	154					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TAGAAATAGAGATAAATCAGA	0.368									Opitz Trigonocephaly syndrome				False	0	False	3:111286413	0	C	111286413	G	C	111286413	3	2	119	1	0	0	0	0	1	0	0	0	3071	933	33	5	472	5	CD96	3	111286413	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	58675698	111286413	86736017	37	31635											
GPR156	165829	broad.mit.edu	37	chr3	119962536	119962536	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaaagaaaagtatcagcaGaagtccacagctgagaaaag	10	6	1	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:119962536G>A	ENST00000464295.1	-	3	629	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	GPR156_ENST00000315843.3_Silent_p.L62L|GPR156_ENST00000461057.1_Silent_p.L62L			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	62						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGTATCAGCAGAAGTCCACAG	0.428													False	0	False	3:119962536	0	A	119962536	G	A	119962536	2	1	119	1	0	0	0	0	0	0	0	1	6707	933	33	2		2	GPR156	3	119962536	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	8676123	119962536	78059894	38	31636											
STXBP5L	9515	broad.mit.edu	37	chr3	120957910	120957910	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agattgtcctccggatttgaTtctagtactgtattctatag	8	7	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:120957910T>C	ENST00000273666.6	+	13	1548	c.1277T>C	c.(1276-1278)aTt>aCt	p.I426T	STXBP5L_ENST00000492541.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I426T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	426					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCGGATTTGATTCTAGTACTG	0.313													False	0	False	3:120957910	0	C	120957910	T	C	120957910	3	2	119	1	0	0	0	0	1	0	0	0	15439	1493	52	4	1323	4	STXBP5L	3	120957910	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	995374	120957910	77064520	39	31637											
ADCY5	111	broad.mit.edu	37	chr3	123010065	123010065	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaagttggcgatggaggcGaacatgaccgccacacactc	13	11	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:123010065G>A	ENST00000462833.1	-	18	4434	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F	ADCY5_ENST00000309879.5_Silent_p.F724F|ADCY5_ENST00000491190.1_Silent_p.F732F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1074	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.F1074L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGATGGAGGCGAACATGACCG	0.577													False	0	False	3:123010065	0	A	123010065	G	A	123010065	2	1	119	1	0	0	0	0	0	0	0	1	297	1049	37	1		1	ADCY5	3	123010065	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2052155	123010065	75012365	40	31638											
ADCY5	111	broad.mit.edu	37	chr3	123021988	123021988	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacggccgactccgccacgtGacacgcgttgacctggctcg	13	16	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:123021988G>A	ENST00000462833.1	-	14	3850	c.2638C>T	c.(2638-2640)Cac>Tac	p.H880Y	ADCY5_ENST00000309879.5_Missense_Mutation_p.H530Y|ADCY5_ENST00000491190.1_Missense_Mutation_p.H513Y	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	880					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCCGCCACGTGACACGCGTTG	0.642													False	0	False	3:123021988	0	A	123021988	G	A	123021988	3	1	119	1	0	0	0	0	1	0	0	0	297	1290	45	2	1179	2	ADCY5	3	123021988	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	11923	123021988	75000442	41	31639											
XRN1	54464	broad.mit.edu	37	chr3	142142485	142142485	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgttaatccaagcataatCtgttgaaaaatgattaagaa	6	5	1	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:142142485C>T	ENST00000264951.4	-	6	745		c.e6-1		XRN1_ENST00000544157.1_Splice_Site|XRN1_ENST00000463916.1_Splice_Site|XRN1_ENST00000392981.2_Splice_Site	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CAAGCATAATCTGTTGAAAAA	0.279													False	0	False	3:142142485	0	T	142142485	C	T	142142485	5	4	119	1	0	0	0	0	0	0	1	0	17543	927	32	2	4641	2	XRN1	3	142142485	Splice_Site	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	19120497	142142485	55879945	42	31640											
ECT2	1894	broad.mit.edu	37	chr3	172480552	172480552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagagaatatagtaaaagatCttccctttgaaccttcaaag	6	7	2	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:172480552C>A	ENST00000417960.1	+	10	1342	c.865C>A	c.(865-867)Ctt>Att	p.L289I	ECT2_ENST00000232458.5_Missense_Mutation_p.L290I|ECT2_ENST00000427830.1_Missense_Mutation_p.L290I|ECT2_ENST00000540509.1_Missense_Mutation_p.L321I|ECT2_ENST00000392692.3_Missense_Mutation_p.L321I|ECT2_ENST00000441497.2_Missense_Mutation_p.L290I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	290	BRCT 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AGTAAAAGATCTTCCCTTTGA	0.333													False	0	False	3:172480552	0	A	172480552	C	A	172480552	3	1	119	1	0	0	0	0	1	0	0	0	4931	913	32	3	898	3	ECT2	3	172480552	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	30338067	172480552	25541878	43	31641											
FBXO45	200933	broad.mit.edu	37	chr3	196304578	196304578	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtggcattgctgggcagTgatgaccagagctggggctg	17	7	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:196304578T>C	ENST00000311630.6	+	2	870	c.573T>C	c.(571-573)agT>agC	p.S191S	FBXO45_ENST00000440469.1_Silent_p.S12S	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	191	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGCTGGGCAGTGATGACCAGA	0.517													False	0	False	3:196304578	0	C	196304578	T	C	196304578	2	2	119	1	0	0	0	0	0	0	0	1	5794	1693	59	4		4	FBXO45	3	196304578	Silent	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	23824026	196304578	1717852	44	31642											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107248	6107248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgatgcggtgcacctcGtcttggtgcgcctggtaggc	15	12	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:6107248G>A	ENST00000409021.3	-	3	1025	c.576C>T	c.(574-576)gaC>gaT	p.D192D	JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Silent_p.D192D|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000282924.5_Silent_p.D192D|JAKMIP1_ENST00000410077.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	192	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTGCACCTCGTCTTGGTGCG	0.701													False	0	False	4:6107248	0	A	6107248	G	A	6107248	2	1	119	1	0	0	0	0	0	0	0	1	7990	1136	40	1		1	JAKMIP1	4	6107248	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		6107248	185047028	45	31643											
PCDH7	5099	broad.mit.edu	37	chr4	30724130	30724130	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggctgctgcgccttgacgaGacgtccggctggctcagcgt	15	14	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:30724130G>C	ENST00000361762.2	+	1	2094	c.1086G>C	c.(1084-1086)gaG>gaC	p.E362D	PCDH7_ENST00000543491.1_Missense_Mutation_p.E362D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	362	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCCTTGACGAGACGTCCGGCT	0.692													False	0	False	4:30724130	0	C	30724130	G	C	30724130	3	2	119	1	0	0	0	0	1	0	0	0	11584	933	33	5	1088	5	PCDH7	4	30724130	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	24616882	30724130	160430146	46	31644											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	119	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-LB-A7SX-01A-11D-A33T-08	9710575	40434705	150719571	47	31645											
ADAMTS3	9508	broad.mit.edu	37	chr4	73205309	73205309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtacctcgatattgtaatCgttttctcccgcgtgtctgc	8	12	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:73205309C>T	ENST00000286657.4	-	5	799	c.763G>A	c.(763-765)Gat>Aat	p.D255N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	255					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATATTGTAATCGTTTTCTCCC	0.498													False	0	False	4:73205309	0	T	73205309	C	T	73205309	3	4	119	1	0	0	0	0	1	0	0	0	267	884	31	1	2926	1	ADAMTS3	4	73205309	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	32770604	73205309	117948967	48	31646											
TACR3	6870	broad.mit.edu	37	chr4	104640521	104640521	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggatgatccagatgacgatGagatttcccaaaactgccac	9	10	0	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:104640521G>C	ENST00000304883.2	-	1	452	c.312C>G	c.(310-312)ctC>ctG	p.L104L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	104						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGATGACGATGAGATTTCCCA	0.592													False	0	False	4:104640521	0	C	104640521	G	C	104640521	2	2	119	1	0	0	0	0	0	0	0	1	15589	1277	45	5		5	TACR3	4	104640521	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	31435212	104640521	86513755	49	31647											
PAPSS1	9061	broad.mit.edu	37	chr4	108641321	108641321	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgactttcttgcacaggctCccggggatctccatgaccgc	10	14	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:108641321C>T	ENST00000265174.4	-	1	287	c.15G>A	c.(13-15)ggG>ggA	p.G5G	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	5					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TGCACAGGCTCCCGGGGATCT	0.677													False	0	True	4:108641321	0	T	108641321	C	T	108641321	2	4	119	1	0	0	0	0	0	0	0	1	11502	842	30	2		2	PAPSS1	4	108641321	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	4000800	108641321	82512955	50	31648											
HADH	3033	broad.mit.edu	37	chr4	108940775	108940775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagacaagaccgattcGctggcctccatttcttcaac	6	16	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:108940775G>A	ENST00000505878.1	+	5	784	c.511G>A	c.(511-513)Gct>Act	p.A171T	HADH_ENST00000603302.1_Missense_Mutation_p.A167T|HADH_ENST00000309522.3_Missense_Mutation_p.A167T|HADH_ENST00000454409.2_Missense_Mutation_p.A171T|HADH_ENST00000403312.1_Missense_Mutation_p.A226T			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	167					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	AGACCGATTCGCTGGCCTCCA	0.498													False	0	False	4:108940775	0	A	108940775	G	A	108940775	3	1	119	1	0	0	0	0	1	0	0	0	6989	1087	38	1	513	1	HADH	4	108940775	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	299454	108940775	82213501	51	31649											
OTUD4	54726	broad.mit.edu	37	chr4	146073752	146073752	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaattccttgaacatcTgcattcaaaaattttccatt	4	8	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:146073752T>A	ENST00000454497.2	-	11	851	c.714A>T	c.(712-714)gcA>gcT	p.A238A	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Silent_p.A303A	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	302							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTTGAACATCTGCATTCAAAA	0.363													False	0	False	4:146073752	0	A	146073752	T	A	146073752	2	1	119	1	0	0	0	0	0	0	0	1	11382	1567	55	5		5	OTUD4	4	146073752	Silent	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	37132977	146073752	45080524	52	31650											
ZNF827	152485	broad.mit.edu	37	chr4	146770591	146770591	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagggttcggttttctctcGcccgattaaagtgctgtagc	11	9	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:146770591G>A	ENST00000508784.1	-	6	2331	c.2104C>T	c.(2104-2106)Cga>Tga	p.R702*	ZNF827_ENST00000379448.4_Nonsense_Mutation_p.R702*|ZNF827_ENST00000513320.1_Nonsense_Mutation_p.R352*|ZNF827_ENST00000511534.1_5'UTR			Q17R98	ZN827_HUMAN	zinc finger protein 827	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R702*(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GTTTTCTCTCGCCCGATTAAA	0.502													False	0	True	4:146770591	0	A	146770591	G	A	146770591	4	1	119	1	0	0	0	0	0	1	0	0	18262	1095	38	1	1161	1	ZNF827	4	146770591	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	696839	146770591	44383685	53	31651											
FBXW7	0	broad.mit.edu	37	chr4	153253860	153253861	+	Frame_Shift_Del	DEL	AT	AT	-													ggttccaggaatgaaagcacAtagagtgccaactaagaaaa							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:153253860_153253861delAT	ENST00000281708.4	-	6	2101_2102	c.872_873delAT	c.(871-873)tatfs	p.Y291fs	FBXW7_ENST00000603841.1_Frame_Shift_Del_p.Y291fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.Y291fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.Y211fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.Y173fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.Y115fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	291	F-box.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGAAAGCACATAGAGTGCCAA	0.347			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								False	1	False	4:153253860	0	-	153253861	AT	-	153253860	7	5	119	1	0	1	0	1	0	0	0	0	5809	224	8	0	1278	0	FBXW7	4	153253860	Frame_Shift_Del	DEL	AT	TCGA-LB-A7SX-01A-11D-A33T-08	6483269	153253860	37900416	54	31652											
PDGFC	56034	broad.mit.edu	37	chr4	157689125	157689125	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taatcttacctcctctgttaGaaggttcagatccaccacta	5	12	3	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:157689125G>A	ENST00000502773.1	-	5	1211	c.721C>T	c.(721-723)Cta>Tta	p.L241L	PDGFC_ENST00000542208.1_Silent_p.L86L|PDGFC_ENST00000541126.1_Silent_p.L78L|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000422544.2_Silent_p.L241L	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	241					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TCCTCTGTTAGAAGGTTCAGA	0.383													False	0	False	4:157689125	0	A	157689125	G	A	157689125	2	1	119	1	0	0	0	0	0	0	0	1	11727	933	33	2		2	PDGFC	4	157689125	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4435265	157689125	33465151	55	31653											
ZDHHC11	79844	broad.mit.edu	37	chr5	837564	837564	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttctttgcggttattaatGagatactcaaaggtggtcat	9	6	4	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:837564G>T	ENST00000283441.8	-	6	1199	c.816C>A	c.(814-816)ctC>ctA	p.L272L	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.L272L	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	272						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGTTATTAATGAGATACTCAA	0.493													False	0	False	5:837564	0	T	837564	G	T	837564	2	4	119	1	0	0	0	0	0	0	0	1	17684	1277	45	3		3	ZDHHC11	5	837564	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		837564	180077696	56	31654											
ADAMTS16	170690	broad.mit.edu	37	chr5	5182355	5182355	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctggcacatcaacccctgCacagcagcgaccttcgcctg	9	17	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:5182355C>A	ENST00000274181.7	+	4	838	c.700C>A	c.(700-702)Cac>Aac	p.H234N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H234N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	234					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCAACCCCTGCACAGCAGCGA	0.532													False	0	False	5:5182355	0	A	5182355	C	A	5182355	3	1	119	1	0	0	0	0	1	0	0	0	261	710	25	3	714	3	ADAMTS16	5	5182355	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	4344791	5182355	175732905	57	31655											
MRPS30	10884	broad.mit.edu	37	chr5	44815301	44815301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcacagctgttggaaaaCtgaaaaagcatatttgattg	8	5	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:44815301C>T	ENST00000507110.1	+	5	1355	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	439					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TGTTGGAAAACTGAAAAAGCA	0.294													False	0	True	5:44815301	0	T	44815301	C	T	44815301	2	4	119	1	0	0	0	0	0	0	0	1	9907	564	20	2		2	MRPS30	5	44815301	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	39632946	44815301	136099959	58	31656											
PCDHAC1	0	broad.mit.edu	37	chr5	140308195	140308195	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtggaaattgtgccccgctCtgccaggactggacacttgg	13	11	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:140308195C>T	ENST00000253807.2	+	1	1718	c.1718C>T	c.(1717-1719)tCt>tTt	p.S573F	PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S573F|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCCGCTCTGCCAGGACT	0.488													False	0	False	5:140308195	0	T	140308195	C	T	140308195	3	4	119	1	0	0	0	0	1	0	0	0	11600	913	32	2	1720	2	PCDHAC1	5	140308195	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	95492894	140308195	40607065	59	31657											
STK10	6793	broad.mit.edu	37	chr5	171510042	171510042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcagctgggtctggttccGatgctcttctttctggagca	11	11	5	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:171510042G>A	ENST00000176763.5	-	11	2075	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	578							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTGGTTCCGATGCTCTTCT	0.478													False	0	False	5:171510042	0	A	171510042	G	A	171510042	3	1	119	1	0	0	0	0	1	0	0	0	15368	1057	37	1	1210	1	STK10	5	171510042	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	31201847	171510042	9405218	60	31658											
PRL	5617	broad.mit.edu	37	chr6	22290545	22290545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagaggctcattccaggatCgcaatatgctgactatcagg	10	10	2	2	rs139327343	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:22290545C>T	ENST00000306482.1	-	4	868	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	117					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					ATTCCAGGATCGCAATATGCT	0.423													False	0	False	6:22290545	0	T	22290545	C	T	22290545	3	4	119	1	0	0	0	0	1	0	0	0	12604	884	31	1	341	1	PRL	6	22290545	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		22290545	148824522	61	31659											
HIST1H2AL	8332	broad.mit.edu	37	chr6	27833264	27833264	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaactatgctgagcgggtCggggccggcgcgccggtgta	19	11	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:27833264C>T	ENST00000357320.2	+	1	231	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	44					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CTGAGCGGGTCGGGGCCGGCG	0.692													False	0	True	6:27833264	0	T	27833264	C	T	27833264	2	4	119	1	0	0	0	0	0	0	0	1	7185	871	31	1		1	HIST1H2AL	6	27833264	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	5542719	27833264	143281803	62	31660											
POPDC3	64208	broad.mit.edu	37	chr6	105609437	105609437	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagagatccccaggggctgGaaaagggagctgtacaacac	13	9	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:105609437G>A	ENST00000254765.3	-	2	626	c.348C>T	c.(346-348)ttC>ttT	p.F116F	POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	116						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CCAGGGGCTGGAAAAGGGAGC	0.443													False	0	True	6:105609437	0	A	105609437	G	A	105609437	2	1	119	1	0	0	0	0	0	0	0	1	12325	1165	41	2		2	POPDC3	6	105609437	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	77776173	105609437	65505630	63	31661											
FAM184A	79632	broad.mit.edu	37	chr6	119285893	119285893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacactttgttgaagttaGtttctcgattgactaattcc	6	7	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:119285893G>A	ENST00000338891.7	-	16	3520	c.3077C>T	c.(3076-3078)aCt>aTt	p.T1026I	FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Missense_Mutation_p.T857I|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1026										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTTGAAGTTAGTTTCTCGATT	0.303													False	0	True	6:119285893	0	A	119285893	G	A	119285893	3	1	119	1	0	0	0	0	1	0	0	0	5547	1029	36	2	357	2	FAM184A	6	119285893	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	13676456	119285893	51829174	64	31662											
GRM1	2911	broad.mit.edu	37	chr6	146350993	146350993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctgctggcactcttccGtggctctggaacagagcatt	10	13	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:146350993G>A	ENST00000392299.2	+	2	810	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	GRM1_ENST00000282753.1_Missense_Mutation_p.V114M|GRM1_ENST00000355289.4_Missense_Mutation_p.V114M|GRM1_ENST00000492807.2_Missense_Mutation_p.V114M|GRM1_ENST00000361719.2_Missense_Mutation_p.V114M|GRM1_ENST00000507907.1_Missense_Mutation_p.V114M			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	114					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCACTCTTCCGTGGCTCTGGA	0.567													False	0	False	6:146350993	0	A	146350993	G	A	146350993	3	1	119	1	0	0	0	0	1	0	0	0	6843	1145	40	1	342	1	GRM1	6	146350993	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	27065100	146350993	24764074	65	31663											
HDAC9	9734	broad.mit.edu	37	chr7	18788739	18788739	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcacgactgcaagaaaCtgggctgctaaataaatgtg	11	8	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:18788739C>A	ENST00000406451.4	+	14	2162	c.2012C>A	c.(2011-2013)aCt>aAt	p.T671N	HDAC9_ENST00000441542.2_Missense_Mutation_p.T674N|HDAC9_ENST00000432645.2_Missense_Mutation_p.T671N|HDAC9_ENST00000401921.1_Missense_Mutation_p.T630N	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9		Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTGCAAGAAACTGGGCTGCTA	0.438													False	0	True	7:18788739	0	A	18788739	C	A	18788739	3	1	119	1	0	0	0	0	1	0	0	0	7061	565	20	3	2122	3	HDAC9	7	18788739	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		18788739	140349924	66	31664											
GLI3	2737	broad.mit.edu	37	chr7	42018283	42018283	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaagggtttctgctctcttGagcagtccagccacctgcac	10	13	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:42018283G>T	ENST00000395925.3	-	11	1646	c.1562C>A	c.(1561-1563)tCa>tAa	p.S521*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	521					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGCTCTCTTGAGCAGTCCAG	0.453									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	False	7:42018283	0	T	42018283	G	T	42018283	4	4	119	1	0	0	0	0	0	1	0	0	6484	1294	45	3	3200	3	GLI3	7	42018283	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	23229544	42018283	117120380	67	31665											
ABCA13	154664	broad.mit.edu	37	chr7	48431547	48431547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggggctccaccctcccaCttctggaaccatcatcatca	7	17	4	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:48431547C>T	ENST00000435803.1	+	38	11708	c.11684C>T	c.(11683-11685)aCt>aTt	p.T3895I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3895	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACCCTCCCACTTCTGGAACC	0.522													False	0	False	7:48431547	0	T	48431547	C	T	48431547	3	4	119	1	0	0	0	0	1	0	0	0	31	565	20	2	11663	2	ABCA13	7	48431547	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	6413264	48431547	110707116	68	31666											
C7orf43	55262	broad.mit.edu	37	chr7	99755385	99755385	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttccacacagtcactacaaTctgtcaagaggaaagacaga	7	11	3	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:99755385T>A	ENST00000316937.3	-	3	693	c.508A>T	c.(508-510)Att>Ttt	p.I170F	C7orf43_ENST00000457641.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	170										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCACTACAATCTGTCAAGAG	0.527											OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	7:99755385	0	A	99755385	T	A	99755385	5	1	119	1	0	0	0	0	0	0	1	0	2412	1449	50	5	1270	5	C7orf43	7	99755385	Splice_Site	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	51323838	99755385	59383278	69	31667											
RINT1	60561	broad.mit.edu	37	chr7	105182892	105182892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaattcctaaaagaattcGaagtgccttaaaaaatgcag	7	6	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:105182892G>A	ENST00000257700.2	+	4	542	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	RINT1_ENST00000477285.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	104					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAAAGAATTCGAAGTGCCTTA	0.328													False	0	False	7:105182892	0	A	105182892	G	A	105182892	3	1	119	1	0	0	0	0	1	0	0	0	13455	1058	37	1	325	1	RINT1	7	105182892	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5427507	105182892	53955771	70	31668											
CASP2	835	broad.mit.edu	37	chr7	143002066	143002066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggatcgggaaggttatGctcctggcacagaattccac	11	10	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:143002066G>T	ENST00000310447.5	+	11	1502	c.1261G>T	c.(1261-1263)Gct>Tct	p.A421S	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	421					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GGAAGGTTATGCTCCTGGCAC	0.552													False	0	False	7:143002066	0	T	143002066	G	T	143002066	3	4	119	1	0	0	0	0	1	0	0	0	2691	1319	46	3	1303	3	CASP2	7	143002066	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	37819174	143002066	16136597	71	31669											
HTR5A	3361	broad.mit.edu	37	chr7	154862970	154862970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccagctttggatcgcgtgcGacgtgctttgctgcacggcc	14	13	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:154862970G>A	ENST00000287907.2	+	1	937	c.361G>A	c.(361-363)Gac>Aac	p.D121N	HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.S15L|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.S15L	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	121						integral to plasma membrane	serotonin receptor activity	p.D121N(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GATCGCGTGCGACGTGCTTTG	0.672													False	0	False	7:154862970	0	A	154862970	G	A	154862970	3	1	119	1	0	0	0	0	1	0	0	0	7500	1058	37	1	363	1	HTR5A	7	154862970	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	11860904	154862970	4275693	72	31670											
PRKDC	5591	broad.mit.edu	37	chr8	48691183	48691183	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgggagcggagcgccaggAaagcctcagggcttgtactc	16	10	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:48691183A>C	ENST00000314191.2	-	84	11743	c.11687T>G	c.(11686-11688)tTc>tGc	p.F3896C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.F3865C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3897	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAGCGCCAGGAAAGCCTCAGG	0.562								Non-homologous end-joining					False	0	True	8:48691183	0	C	48691183	A	C	48691183	3	2	119	1	0	0	0	0	1	0	0	0	12597	246	9	4	712	4	PRKDC	8	48691183	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08		48691183	97672839	73	31671											
EFCAB1	79645	broad.mit.edu	37	chr8	49643125	49643125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttttttcttccaaagatcctCgaagaaacagtgataatcca	5	9	1	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:49643125C>A	ENST00000433756.1	-	2	296	c.137G>T	c.(136-138)cGa>cTa	p.R46L	EFCAB1_ENST00000523092.1_Missense_Mutation_p.R46L|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000262103.3_Missense_Mutation_p.R98L	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	98							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAAAGATCCTCGAAGAAACAG	0.343													False	0	False	8:49643125	0	A	49643125	C	A	49643125	3	1	119	1	0	0	0	0	1	0	0	0	4963	884	31	3	358	3	EFCAB1	8	49643125	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	951942	49643125	96720897	74	31672											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885210	88885210	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagcagtcctggcccacggcCgccacgactccttcttcttc	8	18	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:88885210C>A	ENST00000319675.3	-	1	1086	c.990G>T	c.(988-990)gcG>gcT	p.A330A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	330										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGCCCACGGCCGCCACGACTC	0.567													False	0	False	8:88885210	0	A	88885210	C	A	88885210	2	1	119	1	0	0	0	0	0	0	0	1	4297	639	23	3		3	DCAF4L2	8	88885210	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	39242085	88885210	57478812	75	31673											
KIAA1429	25962	broad.mit.edu	37	chr8	95538657	95538657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatatccatagaagcttcCacctcattttcatattctgg	4	12	3	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:95538657C>T	ENST00000297591.5	-	8	1890	c.1815G>A	c.(1813-1815)gtG>gtA	p.V605V	KIAA1429_ENST00000421249.2_Silent_p.V605V|KIAA1429_ENST00000437199.1_Silent_p.V605V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	605					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TAGAAGCTTCCACCTCATTTT	0.383													False	0	False	8:95538657	0	T	95538657	C	T	95538657	2	4	119	1	0	0	0	0	0	0	0	1	8281	581	21	2		2	KIAA1429	8	95538657	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	6653447	95538657	50825365	76	31674											
FBXO43	286151	broad.mit.edu	37	chr8	101153416	101153416	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtttctgcagtagttcttGaaaagaaccctcctggtcag	9	9	3	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:101153416G>A	ENST00000428847.2	-	2	1382	c.1066C>T	c.(1066-1068)Caa>Taa	p.Q356*		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	356					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGTAGTTCTTGAAAAGAACCC	0.463													False	0	True	8:101153416	0	A	101153416	G	A	101153416	4	1	119	1	0	0	0	0	0	1	0	0	5792	1299	45	2	1076	2	FBXO43	8	101153416	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5614759	101153416	45210606	77	31675											
TRMT12	55039	broad.mit.edu	37	chr8	125463295	125463295	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctccagaggcagaaactcTttgatacacagcaccgtgtg	9	11	2	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:125463295T>G	ENST00000328599.3	+	1	248	c.127T>G	c.(127-129)Ttt>Gtt	p.F43V	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	43					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCAGAAACTCTTTGATACACA	0.557													False	0	True	8:125463295	0	G	125463295	T	G	125463295	3	3	119	1	0	0	0	0	1	0	0	0	16647	1609	56	4	129	4	TRMT12	8	125463295	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	24309879	125463295	20900727	78	31676											
CYP11B1	0	broad.mit.edu	37	chr8	143958530	143958530	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcttcttcagggcctgggaGaagtccctggccactgcatc	11	13	3	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:143958530G>A	ENST00000292427.4	-	3	536	c.504C>T	c.(502-504)ttC>ttT	p.F168F	CYP11B1_ENST00000517471.1_Silent_p.F168F|CYP11B1_ENST00000377675.3_Silent_p.F239F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	168					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGCCTGGGAGAAGTCCCTGG	0.612									Familial Hyperaldosteronism type I				False	0	False	8:143958530	0	A	143958530	G	A	143958530	2	1	119	1	0	0	0	0	0	0	0	1	4170	933	33	2		2	CYP11B1	8	143958530	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	18495235	143958530	2405492	79	31677											
GRINA	2907	broad.mit.edu	37	chr8	145066090	145066090	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcggtgaccctgtccacGgtgtctgtgttcacttttgt	11	11	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:145066090G>C	ENST00000313269.5	+	4	815	c.537G>C	c.(535-537)acG>acC	p.T179T	GRINA_ENST00000395068.4_Silent_p.T179T	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	179						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCTGTCCACGGTGTCTGTGT	0.572													False	0	False	8:145066090	0	C	145066090	G	C	145066090	2	2	119	1	0	0	0	0	0	0	0	1	6832	1103	39	5		5	GRINA	8	145066090	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1107560	145066090	1297932	80	31678											
PTPRD	5789	broad.mit.edu	37	chr9	8341947	8341947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctaacatggcatctatgaCgatgaagcaaccagtccggc	9	11	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:8341947C>T	ENST00000381196.4	-	37	5236	c.4693G>A	c.(4693-4695)Gtc>Atc	p.V1565I	PTPRD_ENST00000358503.5_Missense_Mutation_p.V1543I|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1155I|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1565I|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1565I|PTPRD_ENST00000397617.3_Missense_Mutation_p.V1158I|PTPRD_ENST00000486161.1_Missense_Mutation_p.V1158I|PTPRD_ENST00000355233.5_Missense_Mutation_p.V1159I|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1158I|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1552I|PTPRD_ENST00000537002.1_Missense_Mutation_p.V1155I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1565	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V1565I(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCATCTATGACGATGAAGCAA	0.358										TSP Lung(15;0.13)			False	0	False	9:8341947	0	T	8341947	C	T	8341947	3	4	119	1	0	0	0	0	1	0	0	0	12878	536	19	1	1073	1	PTPRD	9	8341947	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		8341947	132871484	81	31679											
TMOD1	7111	broad.mit.edu	37	chr9	100315607	100315607	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agccactggatcctgtgctgGaaagtgtgacgctggaaccg	14	10	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:100315607G>T	ENST00000259365.4	+	4	535	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	TMOD1_ENST00000395211.2_Nonsense_Mutation_p.E108*	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1		Tropomyosin-binding (Potential).				muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCCTGTGCTGGAAAGTGTGAC	0.547													False	0	True	9:100315607	0	T	100315607	G	T	100315607	4	4	119	1	0	0	0	0	0	1	0	0	16315	1175	41	3	332	3	TMOD1	9	100315607	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	91973660	100315607	40897824	82	31680											
OR13C2	392376	broad.mit.edu	37	chr9	107367328	107367328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcatgatgaactcattgTctgagatgtcagcacaggcc	10	10	3	3	rs74954118		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:107367328T>C	ENST00000542196.1	-	1	623	c.581A>G	c.(580-582)gAc>gGc	p.D194G		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GAACTCATTGTCTGAGATGTC	0.388													False	0	False	9:107367328	0	C	107367328	T	C	107367328	3	2	119	1	0	0	0	0	1	0	0	0	11002	1667	58	4	378	4	OR13C2	9	107367328	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	7051721	107367328	33846103	83	31681											
GDI2	2665	broad.mit.edu	37	chr10	5810230	5810230	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatctggcaggagttggcatCattggtgttcttgatggggt	16	5	3	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:5810230C>T	ENST00000380191.4	-	8	1227	c.937G>A	c.(937-939)Gat>Aat	p.D313N	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Missense_Mutation_p.D268N|GDI2_ENST00000380132.4_Missense_Mutation_p.D317N	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	313					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						GAGTTGGCATCATTGGTGTTC	0.453													False	0	False	10:5810230	0	T	5810230	C	T	5810230	3	4	119	1	0	0	0	0	1	0	0	0	6366	826	29	2	416	2	GDI2	10	5810230	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		5810230	129724517	84	31682											
KIF5B	3799	broad.mit.edu	37	chr10	32310006	32310006	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttcatctctcaaactactGatctgtttttgatgagtttc	5	9	4	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:32310006G>A	ENST00000302418.4	-	19	2605	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	716					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCAAACTACTGATCTGTTTTT	0.358			T	"RET, ALK"	NSCLC								False	0	False	10:32310006	0	A	32310006	G	A	32310006	2	1	119	1	0	0	0	0	0	0	0	1	8356	1280	45	2		2	KIF5B	10	32310006	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	26499776	32310006	103224741	85	31683											
C10orf71	118461	broad.mit.edu	37	chr10	50531971	50531971	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcacgccctggattcagcaGacagccagccagcagagcga	12	14	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:50531971G>C	ENST00000374144.3	+	3	1669	c.1381G>C	c.(1381-1383)Gac>Cac	p.D461H	C10orf71_ENST00000323868.4_Missense_Mutation_p.D461H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	461			D -> A (in dbSNP:rs45554335).							endometrium(1)	1						GGATTCAGCAGACAGCCAGCC	0.542													False	0	False	10:50531971	0	C	50531971	G	C	50531971	3	2	119	1	0	0	0	0	1	0	0	0	1622	942	33	5	1383	5	C10orf71	10	50531971	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	18221965	50531971	85002776	86	31684											
PCDH15	65217	broad.mit.edu	37	chr10	56128948	56128948	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcattcctgtctctcaccaCtattcgcacttcatggtaga	6	13	4	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:56128948C>A	ENST00000373965.2	-	5	800	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.V136L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V136L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V114L|PCDH15_ENST00000395440.1_Missense_Mutation_p.V136L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V114L|PCDH15_ENST00000320301.6_Missense_Mutation_p.V136L|PCDH15_ENST00000395446.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395442.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V136L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V141L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	136	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTCTCACCACTATTCGCACT	0.438										HNSCC(58;0.16)			False	0	False	10:56128948	0	A	56128948	C	A	56128948	3	1	119	1	0	0	0	0	1	0	0	0	11579	565	20	3	7221	3	PCDH15	10	56128948	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	5596977	56128948	79405799	87	31685											
TACR2	6865	broad.mit.edu	37	chr10	71164771	71164771	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaggtcgtgggagtcagctcGagcttatcttccttggtggg	16	8	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:71164771G>C	ENST00000373306.4	-	5	1551	c.1008C>G	c.(1006-1008)ctC>ctG	p.L336L	TACR2_ENST00000373307.1_Silent_p.L124L	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	336					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GAGTCAGCTCGAGCTTATCTT	0.612													False	0	False	10:71164771	0	C	71164771	G	C	71164771	2	2	119	1	0	0	0	0	0	0	0	1	15588	1045	37	5		5	TACR2	10	71164771	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	15035823	71164771	64369976	88	31686											
H2AFY2	55506	broad.mit.edu	37	chr10	71859992	71859992	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaaggctgggggaaaAgagttcttggaaacggtaaa	15	3	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:71859992A>C	ENST00000373255.4	+	7	981	c.717A>C	c.(715-717)aaA>aaC	p.K239N	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	239	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CTGGGGGAAAAGAGTTCTTGG	0.478													False	0	True	10:71859992	0	C	71859992	A	C	71859992	3	2	119	1	0	0	0	0	1	0	0	0	6977	69	3	4	739	4	H2AFY2	10	71859992	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	695221	71859992	63674755	89	31687											
XPNPEP1	7511	broad.mit.edu	37	chr10	111635301	111635301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacttgtattgagcacccGagtcaataaggtacacctca	7	11	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:111635301G>A	ENST00000502935.1	-	15	1495	c.1376C>T	c.(1375-1377)tCg>tTg	p.S459L	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.S345L|XPNPEP1_ENST00000322238.8_Intron|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.S416L			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	416					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TTGAGCACCCGAGTCAATAAG	0.448													False	0	True	10:111635301	0	A	111635301	G	A	111635301	3	1	119	1	0	0	0	0	1	0	0	0	17526	1059	37	1	652	1	XPNPEP1	10	111635301	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	39775309	111635301	23899446	90	31688											
NHLRC2	374354	broad.mit.edu	37	chr10	115663395	115663395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcaacttttaatgaaccagGaggcttgtgtattggagaga	12	5	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:115663395G>A	ENST00000369301.3	+	9	1816	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	535					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AATGAACCAGGAGGCTTGTGT	0.343													False	0	False	10:115663395	0	A	115663395	G	A	115663395	3	1	119	1	0	0	0	0	1	0	0	0	10474	1174	41	2	1638	2	NHLRC2	10	115663395	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4028094	115663395	19871352	91	31689											
DMBT1	1755	broad.mit.edu	37	chr10	124336080	124336080	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggttgtggctgggccatgtCagctccaggaaatgcctggt	16	9	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:124336080C>T	ENST00000338354.3	+	7	555	c.449C>T	c.(448-450)tCa>tTa	p.S150L	DMBT1_ENST00000344338.3_Missense_Mutation_p.S150L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S150L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S150L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S150L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S150L|DMBT1_ENST00000330163.4_Missense_Mutation_p.S150L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	150	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGCCATGTCAGCTCCAGGA	0.602													False	0	False	10:124336080	0	T	124336080	C	T	124336080	3	4	119	1	0	0	0	0	1	0	0	0	4607	838	29	2	475	2	DMBT1	10	124336080	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	8672685	124336080	11198667	92	31690											
OR51B2	79345	broad.mit.edu	37	chr11	5344684	5344684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacagggttcattaaaggagGaaagaggaagtagatgtaac	14	3	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:5344684G>A	ENST00000328813.2	-	1	898	c.844C>T	c.(844-846)Cct>Tct	p.P282S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTAAAGGAGGAAAGAGGAAG	0.373													False	0	True	11:5344684	0	A	5344684	G	A	5344684	3	1	119	1	0	0	0	0	1	0	0	0	11157	1174	41	2	98	2	OR51B2	11	5344684	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		5344684	129661832	93	31691											
OR52N5	390075	broad.mit.edu	37	chr11	5799446	5799446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgagtgtggtagcataaCgcaaagggtagcaaatggct	15	5	0	1	rs144845456		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:5799446C>T	ENST00000317093.2	-	1	451	c.419G>A	c.(418-420)cGt>cAt	p.R140H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGTAGCATAACGCAAAGGGTA	0.502													False	0	False	11:5799446	0	T	5799446	C	T	5799446	3	4	119	1	0	0	0	0	1	0	0	0	11198	536	19	1	559	1	OR52N5	11	5799446	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	454762	5799446	129207070	94	31692											
CYP2R1	120227	broad.mit.edu	37	chr11	14913531	14913531	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cccgtcggggctgtacctctCcgtacacctggctctgcttt	10	16	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:14913531C>G	ENST00000334636.5	-	1	267	c.221G>C	c.(220-222)gGa>gCa	p.G74A		NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	74					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CTGTACCTCTCCGTACACCTG	0.682													False	0	False	11:14913531	0	G	14913531	C	G	14913531	3	3	119	1	0	0	0	0	1	0	0	0	4198	855	30	5	1304	5	CYP2R1	11	14913531	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	9114085	14913531	120092985	95	31693											
ABTB2	25841	broad.mit.edu	37	chr11	34182562	34182562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaggaggctctgcaccaccGagtaccgcgactgcgagaac	13	14	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:34182562G>A	ENST00000435224.2	-	11	2709	c.2285C>T	c.(2284-2286)tCg>tTg	p.S762L	ABTB2_ENST00000298992.2_Missense_Mutation_p.S576L	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	576							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGCACCACCGAGTACCGCGA	0.612													False	0	False	11:34182562	0	A	34182562	G	A	34182562	3	1	119	1	0	0	0	0	1	0	0	0	103	1059	37	1	820	1	ABTB2	11	34182562	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	19269031	34182562	100823954	96	31694											
AGBL2	79841	broad.mit.edu	37	chr11	47721004	47721004	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtaatgacaatacctgaatCtaattgatagacaactgttc	6	7	1	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:47721004C>A	ENST00000525123.1	-	8	973	c.688G>T	c.(688-690)Gat>Tat	p.D230Y	AGBL2_ENST00000298861.4_Missense_Mutation_p.D230Y|AGBL2_ENST00000528244.1_Missense_Mutation_p.D192Y|AGBL2_ENST00000357610.3_Missense_Mutation_p.D230Y|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	230					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ATACCTGAATCTAATTGATAG	0.323													False	0	False	11:47721004	0	A	47721004	C	A	47721004	3	1	119	1	0	0	0	0	1	0	0	0	376	913	32	3	2068	3	AGBL2	11	47721004	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	13538442	47721004	87285512	97	31695											
GLYATL2	219970	broad.mit.edu	37	chr11	58605742	58605742	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattgctcctacctgtttctGaggccgggtaatgacgatct	10	10	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:58605742G>A	ENST00000287275.1	-	3	568	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Nonsense_Mutation_p.Q60*	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	60						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	ACCTGTTTCTGAGGCCGGGTA	0.463													False	0	False	11:58605742	0	A	58605742	G	A	58605742	4	1	119	1	0	0	0	0	0	1	0	0	6526	1299	45	2	722	2	GLYATL2	11	58605742	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	10884738	58605742	76400774	98	31696											
ASRGL1	80150	broad.mit.edu	37	chr11	62159721	62159721	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaagctgcacttcggaattGatcctgacgatactactatc	8	11	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:62159721G>A	ENST00000415229.2	+	7	1107	c.892G>A	c.(892-894)Gat>Aat	p.D298N	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.D298N	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	298					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CTTCGGAATTGATCCTGACGA	0.527											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:62159721	0	A	62159721	G	A	62159721	3	1	119	1	0	0	0	0	1	0	0	0	1064	1290	45	2	914	2	ASRGL1	11	62159721	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3553979	62159721	72846795	99	31697											
SIPA1	6494	broad.mit.edu	37	chr11	65413984	65413984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccagctctgcctgctggCggaggccccttcgcagccaa	14	16	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:65413984C>T	ENST00000394224.3	+	8	1775	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	SIPA1_ENST00000534313.1_Silent_p.G493G|SIPA1_ENST00000394227.3_Silent_p.G493G|SIPA1_ENST00000527525.1_Silent_p.G493G	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	493	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGCCTGCTGGCGGAGGCCCCT	0.716													False	0	False	11:65413984	0	T	65413984	C	T	65413984	2	4	119	1	0	0	0	0	0	0	0	1	14409	755	27	1		1	SIPA1	11	65413984	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	3254263	65413984	69592532	100	31698											
ANKRD42	338699	broad.mit.edu	37	chr11	82921451	82921451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactttacaaataatgctccGaagtggagtggtgagtgact	11	7	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:82921451G>A	ENST00000393389.3	+	4	1372	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	ANKRD42_ENST00000528722.1_Missense_Mutation_p.R34Q|ANKRD42_ENST00000531895.1_Missense_Mutation_p.R147Q|ANKRD42_ENST00000393392.2_Missense_Mutation_p.R119Q|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000533342.1_Missense_Mutation_p.R147Q|ANKRD42_ENST00000260047.6_Missense_Mutation_p.R147Q|ANKRD42_ENST00000526731.1_Missense_Mutation_p.R147Q			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	119										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATAATGCTCCGAAGTGGAGTG	0.408													False	0	False	11:82921451	0	A	82921451	G	A	82921451	3	1	119	1	0	0	0	0	1	0	0	0	670	1058	37	1	370	1	ANKRD42	11	82921451	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	17507467	82921451	52085065	101	31699											
RNF26	79102	broad.mit.edu	37	chr11	119206987	119206987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgtgtcatctgccaggaCcagagcaagacagtgttgct	12	9	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:119206987C>T	ENST00000311413.4	+	1	1751	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	385							zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TCTGCCAGGACCAGAGCAAGA	0.597													False	0	False	11:119206987	0	T	119206987	C	T	119206987	2	4	119	1	0	0	0	0	0	0	0	1	13565	506	18	2		2	RNF26	11	119206987	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	36285536	119206987	15799529	102	31700											
THY1	7070	broad.mit.edu	37	chr11	119290857	119290857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtccttgctagtgaaggCggataagtagaggaccttca	12	9	1	2	rs142564004		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:119290857C>T	ENST00000284240.5	-	3	1316	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	THY1_ENST00000527590.1_5'UTR|THY1_ENST00000580275.1_Missense_Mutation_p.A76T|USP2-AS1_ENST00000578923.1_RNA|THY1_ENST00000528522.1_Missense_Mutation_p.A93T|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000498979.2_RNA|USP2-AS1_ENST00000530002.1_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	93	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		CTAGTGAAGGCGGATAAGTAG	0.562													False	0	False	11:119290857	0	T	119290857	C	T	119290857	3	4	119	1	0	0	0	0	1	0	0	0	15967	768	27	1	216	1	THY1	11	119290857	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	83870	119290857	15715659	103	31701											
OR6X1	390260	broad.mit.edu	37	chr11	123625215	123625215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaattctgtgattactgtGccatttctcatgtcccttga	7	9	2	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:123625215G>A	ENST00000327930.2	-	1	38	c.12C>T	c.(10-12)ggC>ggT	p.G4G		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGATTACTGTGCCATTTCTCA	0.398													False	0	False	11:123625215	0	A	123625215	G	A	123625215	2	1	119	1	0	0	0	0	0	0	0	1	11280	1306	46	2		2	OR6X1	11	123625215	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4334358	123625215	11381301	104	31702											
OR8B12	219858	broad.mit.edu	37	chr11	124413456	124413456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggtgaccgtgtagaaaCccagaaacaggaagaagagg	13	9	0	5			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:124413456C>T	ENST00000306842.2	-	1	119	c.95G>A	c.(94-96)gGt>gAt	p.G32D		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CGTGTAGAAACCCAGAAACAG	0.512													False	0	True	11:124413456	0	T	124413456	C	T	124413456	3	4	119	1	0	0	0	0	1	0	0	0	11294	507	18	2	839	2	OR8B12	11	124413456	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	788241	124413456	10593060	105	31703											
ARHGAP32	9743	broad.mit.edu	37	chr11	128844270	128844270	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cattctgagctgtggtatttGagactgtaccaatgacttct	9	8	2	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:128844270G>A	ENST00000310343.9	-	20	2779	c.2780C>T	c.(2779-2781)tCa>tTa	p.S927L	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S578L|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.S853L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S578L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	927					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGTGGTATTTGAGACTGTACC	0.438													False	0	True	11:128844270	0	A	128844270	G	A	128844270	3	1	119	1	0	0	0	0	1	0	0	0	883	1294	45	2	3495	2	ARHGAP32	11	128844270	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4430814	128844270	6162246	106	31704											
BARX2	8538	broad.mit.edu	37	chr11	129321169	129321169	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggagcagctggagccctctCaggggcaggaggagctctgt	17	10	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:129321169C>T	ENST00000281437.4	+	4	808	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	BARX2_ENST00000531946.1_Nonsense_Mutation_p.Q116*|BARX2_ENST00000526127.1_Nonsense_Mutation_p.Q93*	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	238										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GGAGCCCTCTCAGGGGCAGGA	0.582													False	0	False	11:129321169	0	T	129321169	C	T	129321169	4	4	119	1	0	0	0	0	0	1	0	0	1320	827	29	2	726	2	BARX2	11	129321169	Nonsense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	476899	129321169	5685347	107	31705											
ADAMTS15	170689	broad.mit.edu	37	chr11	130332572	130332572	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccaagggacagatggtgtGccagacccgccacttcccct	12	15	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:130332572G>T	ENST00000299164.2	+	4	1439	c.1439G>T	c.(1438-1440)tGc>tTc	p.C480F		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	480	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CAGATGGTGTGCCAGACCCGC	0.627													False	0	False	11:130332572	0	T	130332572	G	T	130332572	3	4	119	1	0	0	0	0	1	0	0	0	260	1319	46	3	1453	3	ADAMTS15	11	130332572	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1011403	130332572	4673944	108	31706											
DCP1B	196513	broad.mit.edu	37	chr12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG													gctgctgctgctgctgctgcINStggtggagagtctgcggagg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:2062350_2062351insTGG	ENST00000540622.1	-	4	435_436	c.377_378insCCA	c.(376-378)cag>caCCAg	p.125_126insH	DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH|DCP1B_ENST00000280665.6_In_Frame_Ins_p.251_252insH|DCP1B_ENST00000541700.1_5'UTR			Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.55													False	2	True	12:2062350	0	TGG	2062351	-	TGG	2062350	7	5	119	1	0	1	1	0	0	0	0	0	4324	796	28	0	1109	0	DCP1B	12	2062350	In_Frame_Ins	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08		2062350	131789545	109	31707											
STAC3	246329	broad.mit.edu	37	chr12	57642585	57642585	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgaagcccaaacttgttgttGacttgggaaagggggagaaa	14	6	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:57642585G>A	ENST00000332782.2	-	4	537	c.336C>T	c.(334-336)ctC>ctT	p.L112L	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Splice_Site_p.L73L	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	112					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						ACTTGTTGTTGACTTGGGAAA	0.463													False	0	True	12:57642585	0	A	57642585	G	A	57642585	5	1	119	1	0	0	0	0	0	0	1	0	15323	1304	45	2	794	2	STAC3	12	57642585	Splice_Site	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	55580235	57642585	76209310	110	31708											
SRGAP1	57522	broad.mit.edu	37	chr12	64536271	64536271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgagcctcagattcgacGtagcacgagctcctccagtg	10	15	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:64536271G>A	ENST00000355086.3	+	22	3601	c.3077G>A	c.(3076-3078)cGt>cAt	p.R1026H	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R963H|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R1003H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1026					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGATTCGACGTAGCACGAGC	0.562													False	0	False	12:64536271	0	A	64536271	G	A	64536271	3	1	119	1	0	0	0	0	1	0	0	0	15227	1145	40	1	3163	1	SRGAP1	12	64536271	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	6893686	64536271	69315624	111	31709											
WIF1	11197	broad.mit.edu	37	chr12	65471603	65471603	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgatgcctttatccagggagCgcaaggacaggaattcatag	12	8	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:65471603C>G	ENST00000286574.4	-	3	694	c.320G>C	c.(319-321)cGc>cCc	p.R107P		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	107	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		ATCCAGGGAGCGCAAGGACAG	0.498			T	HMGA2	pleomorphic salivary gland adenoma								False	0	False	12:65471603	0	G	65471603	C	G	65471603	3	3	119	1	0	0	0	0	1	0	0	0	17450	768	27	5	851	5	WIF1	12	65471603	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	935332	65471603	68380292	112	31710											
ATP12A	479	broad.mit.edu	37	chr13	25272886	25272886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctagagaaatgcagcAccatcatgatcaacggcgag	10	11	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:25272886A>G	ENST00000218548.6	+	12	1954	c.1621A>G	c.(1621-1623)Acc>Gcc	p.T541A	ATP12A_ENST00000381946.3_Missense_Mutation_p.T535A	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	535					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GAAATGCAGCACCATCATGAT	0.602													False	0	False	13:25272886	0	G	25272886	A	G	25272886	3	3	119	1	0	0	0	0	1	0	0	0	1126	159	6	4	1667	4	ATP12A	13	25272886	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08		25272886	89896992	113	31711											
COG3	83548	broad.mit.edu	37	chr13	46054424	46054425	+	Splice_Site	INS	-	-	G													gaacagctcctaaaagaacaINSggtaatttggagtaagagag							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:46054424_46054425insG	ENST00000349995.5	+	4	660_661	c.548_549insG	c.(547-552)cagtcg>caGgtcg	p.S184fs		NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	184					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CTAAAAGAACAGGTAATTTGGA	0.332													False	2	False	13:46054424	0	G	46054425	-	G	46054424	8	5	119	1	0	1	1	0	0	0	1	0	3682	202	7	0	562	0	COG3	13	46054424	Splice_Site	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08	20781538	46054424	69115454	114	31712											
SPERT	220082	broad.mit.edu	37	chr13	46287490	46287490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgccccatgtcccaggcCgacctggagctggactacaa	12	15	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:46287490C>T	ENST00000378966.3	+	2	638	c.222C>T	c.(220-222)gcC>gcT	p.A74A	SPERT_ENST00000310521.1_Silent_p.A110A			Q8NA61	SPERT_HUMAN	spermatid associated	110						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TGTCCCAGGCCGACCTGGAGC	0.647													False	0	False	13:46287490	0	T	46287490	C	T	46287490	2	4	119	1	0	0	0	0	0	0	0	1	15121	639	23	1		1	SPERT	13	46287490	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	233066	46287490	68882388	115	31713											
LRCH1	23143	broad.mit.edu	37	chr13	47266759	47266759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggaggactcgtgccatcGccttagccccgttaaaggtc	11	13	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:47266759G>A	ENST00000311191.6	+	8	1332	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	LRCH1_ENST00000389797.3_Missense_Mutation_p.R368H|LRCH1_ENST00000389798.3_Missense_Mutation_p.R368H	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	368										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TCGTGCCATCGCCTTAGCCCC	0.408													False	0	False	13:47266759	0	A	47266759	G	A	47266759	3	1	119	1	0	0	0	0	1	0	0	0	8994	1087	38	1	1133	1	LRCH1	13	47266759	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	979269	47266759	67903119	116	31714											
SUGT1	10910	broad.mit.edu	37	chr13	53227075	53227075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatggcggcggctgcagcagGaactgcaacatcccagaggt	15	11	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:53227075G>A	ENST00000310528.8	+	1	75	c.20G>A	c.(19-21)gGa>gAa	p.G7E	SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.G7E|SUGT1_ENST00000483074.1_3'UTR			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)						mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		gctgcagcagGAACTGCAACA	0.542											OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	13:53227075	0	A	53227075	G	A	53227075	3	1	119	1	0	0	0	0	1	0	0	0	15451	1174	41	2	22	2	SUGT1	13	53227075	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5960316	53227075	61942803	117	31715											
PCDH9	5101	broad.mit.edu	37	chr13	67799612	67799612	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcactgaagtgatctgaActagtggaagagcgtttaga	14	5	1	5			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:67799612A>C	ENST00000544246.1	-	2	3652	c.2961T>G	c.(2959-2961)agT>agG	p.S987R	PCDH9_ENST00000377865.2_Missense_Mutation_p.S987R|PCDH9_ENST00000456367.1_Missense_Mutation_p.S987R|PCDH9_ENST00000328454.5_Missense_Mutation_p.S987R|PCDH9_ENST00000377861.3_Missense_Mutation_p.S987R	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	987					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGTGATCTGAACTAGTGGAAG	0.493													False	0	False	13:67799612	0	C	67799612	A	C	67799612	3	2	119	1	0	0	0	0	1	0	0	0	11586	40	2	4	768	4	PCDH9	13	67799612	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	14572537	67799612	47370266	118	31716											
KLHL1	57626	broad.mit.edu	37	chr13	70681816	70681816	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacatcgaagtcttttcGcccagagcctgacatgcttt	7	13	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:70681816G>A	ENST00000377844.4	-	1	775	c.16C>T	c.(16-18)Cga>Tga	p.R6*	ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	6					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGTCTTTTCGCCCAGAGCCT	0.647													False	0	True	13:70681816	0	A	70681816	G	A	70681816	4	1	119	1	0	0	0	0	0	1	0	0	8415	1095	38	1	2274	1	KLHL1	13	70681816	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2882204	70681816	44488062	119	31717											
DACH1	1602	broad.mit.edu	37	chr13	72049296	72049296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattgtcctttcagcatctGttctgccgccactgcggtca	9	13	4	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:72049296G>A	ENST00000305425.4	-	10	2488	c.2066C>T	c.(2065-2067)aCa>aTa	p.T689I	DACH1_ENST00000354591.4_Missense_Mutation_p.T487I|DACH1_ENST00000313174.7_Missense_Mutation_p.T541I|DACH1_ENST00000359684.2_Missense_Mutation_p.T741I	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	739	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTCAGCATCTGTTCTGCCGCC	0.423													False	0	False	13:72049296	0	A	72049296	G	A	72049296	3	1	119	1	0	0	0	0	1	0	0	0	4245	1377	48	2	68	2	DACH1	13	72049296	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1367480	72049296	43120582	120	31718											
OR4Q3	441669	broad.mit.edu	37	chr14	20215850	20215850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttaggggatttcctacaGcagggcaagagcatctcttt	11	8	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:20215850G>A	ENST00000331723.1	+	1	264	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTCCTACAGCAGGGCAAGA	0.453													False	0	False	14:20215850	0	A	20215850	G	A	20215850	2	1	119	1	0	0	0	0	0	0	0	1	11149	962	34	2		2	OR4Q3	14	20215850	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		20215850	87133690	121	31719											
NGDN	25983	broad.mit.edu	37	chr14	23945486	23945486	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaagaagcgtctagaaCgagccaagagacgggcattg	16	7	1	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:23945486C>T	ENST00000397154.3	+	8	596	c.583C>T	c.(583-585)Cga>Tga	p.R195*	NGDN_ENST00000408901.3_Nonsense_Mutation_p.R195*|NGDN_ENST00000556580.1_5'UTR			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	195					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCGTCTAGAACGAGCCAAGAG	0.473													False	0	False	14:23945486	0	T	23945486	C	T	23945486	4	4	119	1	0	0	0	0	0	1	0	0	10461	528	19	1	613	1	NGDN	14	23945486	Nonsense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	3729636	23945486	83404054	122	31720											
LRRC16B	90668	broad.mit.edu	37	chr14	24530760	24530760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttatgccctgtggccatgCgggtggccgagggacacaac	15	11	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:24530760C>T	ENST00000342740.5	+	27	2513	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	787								p.R787W(3)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTGGCCATGCGGGTGGCCGA	0.612													False	0	True	14:24530760	0	T	24530760	C	T	24530760	3	4	119	1	0	0	0	0	1	0	0	0	9034	759	27	1	2465	1	LRRC16B	14	24530760	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	585274	24530760	82818780	123	31721											
NID2	22795	broad.mit.edu	37	chr14	52507535	52507535	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accgtctcctctcccgggtaGaatgtaacttccatgtcatg	8	13	3	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:52507535G>A	ENST00000216286.5	-	8	1859	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	NID2_ENST00000541773.1_Silent_p.F567F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	620	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTCCCGGGTAGAATGTAACTT	0.463													False	0	False	14:52507535	0	A	52507535	G	A	52507535	2	1	119	1	0	0	0	0	0	0	0	1	10483	933	33	2		2	NID2	14	52507535	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	27976775	52507535	54842005	124	31722											
ZFYVE26	23503	broad.mit.edu	37	chr14	68275942	68275942	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatgttctctggaatgtcaCcttggaggtcttctgacaat	11	8	4	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:68275942C>G	ENST00000347230.4	-	4	476	c.338G>C	c.(337-339)gGt>gCt	p.G113A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G113A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	113					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGAATGTCACCTTGGAGGTC	0.458													False	0	False	14:68275942	0	G	68275942	C	G	68275942	3	3	119	1	0	0	0	0	1	0	0	0	17751	507	18	5	7437	5	ZFYVE26	14	68275942	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	15768407	68275942	39073598	125	31723											
TRAF3	7187	broad.mit.edu	37	chr14	103372120	103372120	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcggatctgcccgatccctGataagtagctggggaggtgg	15	9	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:103372120G>A	ENST00000560371.1	+	11	1923	c.1706G>A	c.(1705-1707)tGa>tAa	p.*569*	TRAF3_ENST00000539721.1_Silent_p.*486*|TRAF3_ENST00000347662.4_Silent_p.*544*|TRAF3_ENST00000392745.2_Silent_p.*569*|TRAF3_ENST00000351691.5_Silent_p.*544*	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	0					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		CCCGATCCCTGATAAGTAGCT	0.453													False	0	False	14:103372120	0	A	103372120	G	A	103372120	2	1	119	1	0	0	0	0	0	0	0	1	16522	1285	45	2		2	TRAF3	14	103372120	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	35096178	103372120	3977420	126	31724											
SECISBP2L	9728	broad.mit.edu	37	chr15	49304939	49304939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccacagaattaaaggatGtcaaacagggctgacttttg	10	7	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:49304939G>A	ENST00000559471.1	-	12	1900	c.1637C>T	c.(1636-1638)aCa>aTa	p.T546I	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.T501I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	546										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATTAAAGGATGTCAAACAGGG	0.348													False	0	False	15:49304939	0	A	49304939	G	A	49304939	3	1	119	1	0	0	0	0	1	0	0	0	14088	1377	48	2	1696	2	SECISBP2L	15	49304939	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		49304939	53226453	127	31725											
DMXL2	23312	broad.mit.edu	37	chr15	51772810	51772810	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accaccaccttgggccccatGaaggctacagtagctgagaa	10	13	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:51772810G>A	ENST00000251076.5	-	24	6780	c.6493C>T	c.(6493-6495)Cat>Tat	p.H2165Y	DMXL2_ENST00000449909.3_Missense_Mutation_p.H1529Y|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.H2165Y	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2165						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGGGCCCCATGAAGGCTACAG	0.428													False	0	False	15:51772810	0	A	51772810	G	A	51772810	3	1	119	1	0	0	0	0	1	0	0	0	4625	1290	45	2	2700	2	DMXL2	15	51772810	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2467871	51772810	50758582	128	31726											
MEGF11	84465	broad.mit.edu	37	chr15	66210374	66210374	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatagggctgcaggtcccGttgttggcacaggagcagag	16	9	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:66210374G>A	ENST00000395614.1	-	0	2076				MEGF11_ENST00000409699.2_Silent_p.N672N|MEGF11_ENST00000395625.2_Silent_p.N597N|MEGF11_ENST00000422354.1_Silent_p.N672N|MEGF11_ENST00000360698.4_Silent_p.N672N|MEGF11_ENST00000288745.3_Silent_p.N597N			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11							basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCAGGTCCCGTTGTTGGCAC	0.612													False	0	True	15:66210374	0	A	66210374	G	A	66210374	1	1	119	1	0	0	0	0	0	0	0	0	9528	1136	40	1		1	MEGF11	15	66210374	Translation_Start_Site	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	14437564	66210374	36321018	129	31727											
LOXL1	4016	broad.mit.edu	37	chr15	74239478	74239478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacaggcaagaaggtggccGagggccacaaggccagtttc	14	12	0	1	rs141057976		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:74239478G>A	ENST00000261921.7	+	4	1746	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	474	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GAAGGTGGCCGAGGGCCACAA	0.577													False	0	False	15:74239478	0	A	74239478	G	A	74239478	3	1	119	1	0	0	0	0	1	0	0	0	8961	1059	37	1	1434	1	LOXL1	15	74239478	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	8029104	74239478	28291914	130	31728											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84652038	84652038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgtgtgaccttattaccCccagtgaggccacatataca	7	12	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:84652038C>T	ENST00000286744.5	+	21	3882	c.3658C>T	c.(3658-3660)Ccc>Tcc	p.P1220S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P1220S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1220	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTTATTACCCCCAGTGAGGC	0.348													False	0	True	15:84652038	0	T	84652038	C	T	84652038	3	4	119	1	0	0	0	0	1	0	0	0	276	623	22	2	3736	2	ADAMTSL3	15	84652038	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	10412560	84652038	17879354	131	31729											
NTRK3	4916	broad.mit.edu	37	chr15	88524482	88524482	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccttgggtaagacacttcCccactctggacctcaggttc	9	14	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:88524482C>A	ENST00000317501.3	-	14	1856	c.1695G>T	c.(1693-1695)ggG>ggT	p.G565G	NTRK3_ENST00000540489.2_Silent_p.G565G|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000394480.2_Intron|NTRK3_ENST00000557856.1_Intron	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			aagacacttccccactctgga	0.413			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			False	0	True	15:88524482	0	A	88524482	C	A	88524482	2	1	119	1	0	0	0	0	0	0	0	1	10776	610	22	3		3	NTRK3	15	88524482	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	3872444	88524482	14006910	132	31730											
RAB11FIP3	9727	broad.mit.edu	37	chr16	476687	476687	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcgtccgcatcgaggacttCatccagtttgctacggtcta	9	12	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:476687C>T	ENST00000262305.4	+	1	1069	c.681C>T	c.(679-681)ttC>ttT	p.F227F	RAB11FIP3_ENST00000457159.1_Silent_p.F227F	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	227	EF-hand 1.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				TCGAGGACTTCATCCAGTTTG	0.706													False	0	False	16:476687	0	T	476687	C	T	476687	2	4	119	1	0	0	0	0	0	0	0	1	12974	825	29	2		2	RAB11FIP3	16	476687	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		476687	89878066	133	31731											
PIGQ	9091	broad.mit.edu	37	chr16	633027	633027	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcagagaggggacaagCaggactgagggaactgctgg	20	6	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:633027C>A	ENST00000321878.5	+	11	1897	c.1738C>A	c.(1738-1740)Cag>Aag	p.Q580K	PIGQ_ENST00000409527.2_Missense_Mutation_p.Q580K|PIGQ_ENST00000026218.5_Missense_Mutation_p.A559E	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	0					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AGGGGACAAGCAGGACTGAGG	0.667													False	0	False	16:633027	0	A	633027	C	A	633027	3	1	119	1	0	0	0	0	1	0	0	0	11965	711	25	3	1776	3	PIGQ	16	633027	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	156340	633027	89721726	134	31732											
FAM86A	196483	broad.mit.edu	37	chr16	5141882	5141882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcgtccaaaggctctgtGtggacagcctcgtgctgggg	15	11	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:5141882G>A	ENST00000427587.4	-	4	323	c.255C>T	c.(253-255)caC>caT	p.H85H	FAM86A_ENST00000587133.1_Intron|FAM86A_ENST00000458008.4_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	85										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AAGGCTCTGTGTGGACAGCCT	0.547													False	0	True	16:5141882	0	A	5141882	G	A	5141882	2	1	119	1	0	0	0	0	0	0	0	1	5683	1368	48	2		2	FAM86A	16	5141882	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4508855	5141882	85212871	135	31733											
XYLT1	64131	broad.mit.edu	37	chr16	17353277	17353277	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttgctgttgtcgacattctCaaagtctttggggacagagt	12	7	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:17353277C>G	ENST00000261381.6	-	3	565	c.481G>C	c.(481-483)Gag>Cag	p.E161Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	161					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCGACATTCTCAAAGTCTTTG	0.502													False	0	True	16:17353277	0	G	17353277	C	G	17353277	3	3	119	1	0	0	0	0	1	0	0	0	17547	835	29	5	2438	5	XYLT1	16	17353277	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	12211395	17353277	73001476	136	31734											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126379	19126379	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcgaggagccagcgcTggccccggccttccgcggct	16	17	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:19126379T>A	ENST00000381440.3	+	1	1126	c.596T>A	c.(595-597)cTg>cAg	p.L199Q	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	199						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAGCCAGCGCTGGCCCCGGCC	0.701											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	16:19126379	0	A	19126379	T	A	19126379	3	1	119	1	0	0	0	0	1	0	0	0	7975	1580	55	5	598	5	ITPRIPL2	16	19126379	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	1773102	19126379	71228374	137	31735											
SH2B1	25970	broad.mit.edu	37	chr16	28877903	28877903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcagtgggtcgctctgtccGaggctcagtccgtggcatcc	13	13	3	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:28877903G>A	ENST00000337120.5	+	1	3779	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	SH2B1_ENST00000359285.5_Missense_Mutation_p.R163Q|SH2B1_ENST00000395532.4_Missense_Mutation_p.R163Q|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.R163Q|SH2B1_ENST00000545570.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	163	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CGCTCTGTCCGAGGCTCAGTC	0.652													False	0	False	16:28877903	0	A	28877903	G	A	28877903	3	1	119	1	0	0	0	0	1	0	0	0	14308	1058	37	1	490	1	SH2B1	16	28877903	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	9751524	28877903	61476850	138	31736											
CENPT	80152	broad.mit.edu	37	chr16	67865088	67865088	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atagcggggagagctttcccCaaaggccagcaggggaaaac	14	10	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:67865088C>G	ENST00000445712.2	-	6	671	c.425G>C	c.(424-426)tGg>tCg	p.W142S	CENPT_ENST00000562947.1_Intron|CENPT_ENST00000219172.3_Intron|CENPT_ENST00000562787.1_Intron|CENPT_ENST00000440851.2_Intron|CENPT_ENST00000564817.1_Intron			Q96BT3	CENPT_HUMAN	centromere protein T	0					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GAGCTTTCCCCAAAGGCCAGC	0.597													False	0	True	16:67865088	0	G	67865088	C	G	67865088	3	3	119	1	0	0	0	0	1	0	0	0	3265	609	21	5		5	CENPT	16	67865088	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	38987185	67865088	22489665	139	31737											
CNTNAP4	85445	broad.mit.edu	37	chr16	76572111	76572111	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctcccacgctgcttcatttCatggtgatatgaagctgagc	10	11	2	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:76572111C>T	ENST00000307431.8	+	20	3476	c.3091C>T	c.(3091-3093)Cat>Tat	p.H1031Y	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H959Y|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H983Y|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.H1035Y	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1032					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGCTTCATTTCATGGTGATAT	0.368													False	0	True	16:76572111	0	T	76572111	C	T	76572111	3	4	119	1	0	0	0	0	1	0	0	0	3672	826	29	2	3181	2	CNTNAP4	16	76572111	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	8707023	76572111	13782642	140	31738											
IL17C	27189	broad.mit.edu	37	chr16	88706381	88706381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgccggccctgctcccgCgacggctcggggctccccac	13	22	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:88706381C>T	ENST00000244241.4	+	3	544	c.495C>T	c.(493-495)cgC>cgT	p.R165R		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	165					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCTGCTCCCGCGACGGCTCGG	0.701													False	0	False	16:88706381	0	T	88706381	C	T	88706381	2	4	119	1	0	0	0	0	0	0	0	1	7686	755	27	1		1	IL17C	16	88706381	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	12134270	88706381	1648372	141	31739											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		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)			False	0	True	17:7578212	0	A	7578212	G	A	7578212	4	1	119	1	0	0	0	0	0	1	0	0	16464	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		7578212	73616998	142	31740											
ALOXE3	59344	broad.mit.edu	37	chr17	8017832	8017832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgaagagcagcgagatcGtcttggtggctgagtatcga	14	7	1	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:8017832G>A	ENST00000380149.1	-	5	1148	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M	ALOXE3_ENST00000448843.2_Missense_Mutation_p.T217M|ALOXE3_ENST00000318227.3_Missense_Mutation_p.T349M			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	217	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAGCGAGATCGTCTTGGTGGC	0.547													False	0	False	17:8017832	0	A	8017832	G	A	8017832	3	1	119	1	0	0	0	0	1	0	0	0	542	1145	40	1	1529	1	ALOXE3	17	8017832	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	439620	8017832	73177378	143	31741											
PIP4K2B	8396	broad.mit.edu	37	chr17	36940505	36940505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctccatacctggtaatcCtgatcatcaattccaaacct	4	14	2	1	rs143351168	by1000genomes	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:36940505C>T	ENST00000269554.3	-	3	825	c.345G>A	c.(343-345)caG>caA	p.Q115Q	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	115	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						CCTGGTAATCCTGATCATCAA	0.502													False	0	False	17:36940505	0	T	36940505	C	T	36940505	2	4	119	1	0	0	0	0	0	0	0	1	12006	680	24	2		2	PIP4K2B	17	36940505	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	28922673	36940505	44254705	144	31742											
MED1	5469	broad.mit.edu	37	chr17	37571341	37571341	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcatccgacagccctttgtaGagtttacagctcacatgtgt	9	11	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:37571341G>A	ENST00000300651.6	-	16	1660	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	MED1_ENST00000394287.3_Silent_p.L479L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	479	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L479L(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCCTTTGTAGAGTTTACAGC	0.408										HNSCC(31;0.082)			False	0	False	17:37571341	0	A	37571341	G	A	37571341	2	1	119	1	0	0	0	0	0	0	0	1	9492	929	33	2		2	MED1	17	37571341	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	630836	37571341	43623869	145	31743											
AOC2	314	broad.mit.edu	37	chr17	40997985	40997985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaaatcatttctatggtGgtttggccagctcagccctt	8	10	4	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:40997985G>A	ENST00000253799.3	+	1	1369	c.1342G>A	c.(1342-1344)Ggt>Agt	p.G448S	AOC2_ENST00000452774.2_Missense_Mutation_p.G448S	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	448					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTTCTATGGTGGTTTGGCCAG	0.517													False	0	False	17:40997985	0	A	40997985	G	A	40997985	3	1	119	1	0	0	0	0	1	0	0	0	729	1348	47	2	1344	2	AOC2	17	40997985	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3426644	40997985	40197225	146	31744											
CLUL1	27098	broad.mit.edu	37	chr18	641458	641458	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggacaccgcctatctggtgGagaagatgagagggcaattt	14	7	1	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:641458G>T	ENST00000581619.1	+	7	2048	c.1201G>T	c.(1201-1203)Gag>Tag	p.E401*	CLUL1_ENST00000579494.1_Nonsense_Mutation_p.E376*|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000400606.2_Nonsense_Mutation_p.E376*|CLUL1_ENST00000540035.1_Nonsense_Mutation_p.E428*|CLUL1_ENST00000338387.7_Nonsense_Mutation_p.E376*			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	376					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CTATCTGGTGGAGAAGATGAG	0.493													False	0	False	18:641458	0	T	641458	G	T	641458	4	4	119	1	0	0	0	0	0	1	0	0	3593	1175	41	3	1148	3	CLUL1	18	641458	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		641458	77435790	147	31745											
CTAGE1	64693	broad.mit.edu	37	chr18	19996570	19996570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taagatctttggctcgctttCggtaggtctccagctcttca	9	11	4	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:19996570C>T	ENST00000391403.2	-	1	1308	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	402						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGCTCGCTTTCGGTAGGTCTC	0.358													False	0	True	18:19996570	0	T	19996570	C	T	19996570	3	4	119	1	0	0	0	0	1	0	0	0	4017	884	31	1	1036	1	CTAGE1	18	19996570	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	19355112	19996570	58080678	148	31746											
ZNF521	25925	broad.mit.edu	37	chr18	22804704	22804704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttatacagtttttggacgtGctggccccgccctgtggtct	11	12	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:22804704G>T	ENST00000361524.3	-	4	3326	c.3178C>A	c.(3178-3180)Cac>Aac	p.H1060N	ZNF521_ENST00000538137.2_Missense_Mutation_p.H1060N|ZNF521_ENST00000584787.1_Missense_Mutation_p.H840N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1060					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTTTGGACGTGCTGGCCCCGC	0.502			T	PAX5	ALL								False	0	False	18:22804704	0	T	22804704	G	T	22804704	3	4	119	1	0	0	0	0	1	0	0	0	18048	1319	46	3	777	3	ZNF521	18	22804704	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2808134	22804704	55272544	149	31747											
MUC16	94025	broad.mit.edu	37	chr19	9064306	9064306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtgaagtcacaggaagggGagagggggggatatgtgcta	19	3	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:9064306G>A	ENST00000397910.4	-	3	23343	c.23140C>T	c.(23140-23142)Ccc>Tcc	p.P7714S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7716	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGGAAGGGGAGAGGGGGGG	0.532													False	0	True	19:9064306	0	A	9064306	G	A	9064306	3	1	119	1	0	0	0	0	1	0	0	0	10040	1174	41	2	20711	2	MUC16	19	9064306	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		9064306	50064677	150	31748											
CD97	976	broad.mit.edu	37	chr19	14515219	14515219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgcctgggccacggcagGagctgctctgtgccttctgg	15	12	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:14515219G>A	ENST00000242786.5	+	13	1554	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	CD97_ENST00000357355.3_Missense_Mutation_p.E443K|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.E399K	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	492	GPS.				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCACGGCAGGAGCTGCTCTG	0.642													False	0	False	19:14515219	0	A	14515219	G	A	14515219	3	1	119	1	0	0	0	0	1	0	0	0	3072	1175	41	2	1524	2	CD97	19	14515219	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5450913	14515219	44613764	151	31749											
SLC7A10	56301	broad.mit.edu	37	chr19	33699875	33699875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctcctcttcgggggcGtcctgggggtagaccacgaa	13	13	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:33699875G>A	ENST00000253188.4	-	11	1640	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10						blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CTTCGGGGGCGTCCTGGGGGT	0.602													False	0	False	19:33699875	0	A	33699875	G	A	33699875	2	1	119	1	0	0	0	0	0	0	0	1	14773	1136	40	1		1	SLC7A10	19	33699875	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	19184656	33699875	25429108	152	31750											
FFAR2	2867	broad.mit.edu	37	chr19	35941517	35941517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctcctccctgttgggaCgcagaggcaaagacacagca	13	12	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:35941517C>T	ENST00000599180.2	+	2	981	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	FFAR2_ENST00000246549.2_Missense_Mutation_p.R301C|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2							integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGTTGGGACGCAGAGGCAA	0.567													False	0	False	19:35941517	0	T	35941517	C	T	35941517	3	4	119	1	0	0	0	0	1	0	0	0	5868	536	19	1	903	1	FFAR2	19	35941517	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2241642	35941517	23187466	153	31751											
LRFN3	79414	broad.mit.edu	37	chr19	36430810	36430810	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgagacactggaggacctCgacctctcctacaacaacct	8	16	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:36430810C>T	ENST00000588831.1	+	3	1537	c.483C>T	c.(481-483)ctC>ctT	p.L161L	LRFN3_ENST00000246529.3_Silent_p.L161L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	161					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGAGGACCTCGACCTCTCCT	0.657													False	0	True	19:36430810	0	T	36430810	C	T	36430810	2	4	119	1	0	0	0	0	0	0	0	1	9001	871	31	1		1	LRFN3	19	36430810	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	489293	36430810	22698173	154	31752											
PRX	57716	broad.mit.edu	37	chr19	40900573	40900573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcgcccgcctgtgcctctCggcttagccccacgtccagc	9	21	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:40900573C>T	ENST00000324001.7	-	7	3956	c.3686G>A	c.(3685-3687)cGa>cAa	p.R1229Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1229	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTGCCTCTCGGCTTAGCCC	0.677													False	0	False	19:40900573	0	T	40900573	C	T	40900573	3	4	119	1	0	0	0	0	1	0	0	0	12718	884	31	1	703	1	PRX	19	40900573	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	4469763	40900573	18228410	155	31753											
PSG7	5676	broad.mit.edu	37	chr19	43430840	43430840	+	RNA	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccctggggtttaagttattGatggtgatgtagggcttggg	16	4	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:43430840G>C	ENST00000406070.2	-	0	834				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTAAGTTATTGATGGTGATGT	0.463													False	0	False	19:43430840	0	C	43430840	G	C	43430840	1	2	119	0	1	0	0	0	0	0	0	0	12736	1280	45	5		5	PSG7	19	43430840	RNA	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2530267	43430840	15698143	156	31754											
CADM4	199731	broad.mit.edu	37	chr19	44129317	44129317	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgttatccgcggataccaGacccggcagcgtgagcgtct	13	14	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:44129317G>A	ENST00000222374.2	-	7	889	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	281	Ig-like C2-type 2.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GCGGATACCAGACCCGGCAGC	0.622													False	0	False	19:44129317	0	A	44129317	G	A	44129317	2	1	119	1	0	0	0	0	0	0	0	1	2589	933	33	2		2	CADM4	19	44129317	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	698477	44129317	14999666	157	31755											
FLT3LG	0	broad.mit.edu	37	chr19	49983561	49983561	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctctttctccccagactcctCaaccctgccacccccatgga	4	21	3	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:49983561C>G	ENST00000595510.1	+	6	543	c.242C>G	c.(241-243)tCa>tGa	p.S81*	FLT3LG_ENST00000594009.1_Nonsense_Mutation_p.S163*|FLT3LG_ENST00000596435.1_Nonsense_Mutation_p.S145*|FLT3LG_ENST00000597551.1_Nonsense_Mutation_p.S163*|FLT3LG_ENST00000600429.1_Nonsense_Mutation_p.S163*|FLT3LG_ENST00000204637.2_Nonsense_Mutation_p.S81*|CTD-3148I10.9_ENST00000599536.1_Intron|CTD-3148I10.15_ENST00000595815.1_RNA			P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	163					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCAGACTCCTCAACCCTGCCA	0.667													False	0	False	19:49983561	0	G	49983561	C	G	49983561	4	3	119	1	0	0	0	0	0	1	0	0	5983	838	29	5	510	5	FLT3LG	19	49983561	Nonsense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	5854244	49983561	9145422	158	31756											
NLRP5	126206	broad.mit.edu	37	chr19	56538857	56538857	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcacagagaagctcaagtcaGaggtcgtgtctccccgttac	11	12	3	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:56538857G>A	ENST00000390649.3	+	7	1258	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	420	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCTCAAGTCAGAGGTCGTGTC	0.547													False	0	False	19:56538857	0	A	56538857	G	A	56538857	3	1	119	1	0	0	0	0	1	0	0	0	10548	943	33	2	1284	2	NLRP5	19	56538857	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	6555296	56538857	2590126	159	31757											
ZFP28	140612	broad.mit.edu	37	chr19	57051065	57051065	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggctgtggggacaggaattGaacctaaagccatgtcccag	13	9	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:57051065G>A	ENST00000301318.3	+	2	351	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	ZFP28_ENST00000591844.1_Missense_Mutation_p.E94K|ZFP28_ENST00000594386.1_3'UTR	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GACAGGAATTGAACCTAAAGC	0.468													False	0	False	19:57051065	0	A	57051065	G	A	57051065	3	1	119	1	0	0	0	0	1	0	0	0	17725	1291	45	2	286	2	ZFP28	19	57051065	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	512208	57051065	2077918	160	31758											
ZNF606	80095	broad.mit.edu	37	chr19	58490523	58490523	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtacattcaaaaggtttctCtcctgtatgagtcctctgat	7	9	3	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:58490523C>T	ENST00000341164.4	-	7	2145	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	ZNF606_ENST00000536132.1_Missense_Mutation_p.E419K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAAGGTTTCTCTCCTGTATGA	0.393													False	0	True	19:58490523	0	T	58490523	C	T	58490523	3	4	119	1	0	0	0	0	1	0	0	0	18115	922	32	2	857	2	ZNF606	19	58490523	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1439458	58490523	638460	161	31759											
CDH22	64405	broad.mit.edu	37	chr20	44828152	44828152	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gatggcgcctgtgtccgcatCgatatcgaagatctggtcca	12	11	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:44828152C>G	ENST00000372262.3	-	7	1733	c.1333G>C	c.(1333-1335)Gat>Cat	p.D445H	CDH22_ENST00000537909.1_Missense_Mutation_p.D445H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	445	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GTGTCCGCATCGATATCGAAG	0.637													False	0	False	20:44828152	0	G	44828152	C	G	44828152	3	3	119	1	0	0	0	0	1	0	0	0	3130	884	31	5	1173	5	CDH22	20	44828152	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		44828152	18197368	162	31760											
PREX1	57580	broad.mit.edu	37	chr20	47324868	47324868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgccgcttggtctcaTtgatgttggagcaaacggtc	11	11	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:47324868T>C	ENST00000396220.1	-	6	735	c.713A>G	c.(712-714)aAt>aGt	p.N238S	PREX1_ENST00000371941.3_Missense_Mutation_p.N238S			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	238	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTTGGTCTCATTGATGTTGGA	0.627													False	0	False	20:47324868	0	C	47324868	T	C	47324868	3	2	119	1	0	0	0	0	1	0	0	0	12552	1493	52	4	4406	4	PREX1	20	47324868	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	2496716	47324868	15700652	163	31761											
ZNF217	7764	broad.mit.edu	37	chr20	52192921	52192921	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgcctggcccaggagggctCtgcttccccttcgcagatgg	13	14	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:52192921C>T	ENST00000371471.2	-	4	2807	c.2382G>A	c.(2380-2382)caG>caA	p.Q794Q	ZNF217_ENST00000302342.3_Silent_p.Q794Q			O75362	ZN217_HUMAN	zinc finger protein 217	794					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAGGAGGGCTCTGCTTCCCCT	0.562													False	0	False	20:52192921	0	T	52192921	C	T	52192921	2	4	119	1	0	0	0	0	0	0	0	1	17855	912	32	2		2	ZNF217	20	52192921	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	4868053	52192921	10832599	164	31762											
PRPF6	24148	broad.mit.edu	37	chr20	62626750	62626750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaggtggaatgacgccagGactgatgacacctggcacag	13	12	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:62626750G>A	ENST00000535781.1	+	6	797	c.686G>A	c.(685-687)gGa>gAa	p.G229E	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	229					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATGACGCCAGGACTGATGACA	0.522													False	0	False	20:62626750	0	A	62626750	G	A	62626750	3	1	119	1	0	0	0	0	1	0	0	0	12650	1174	41	2	708	2	PRPF6	20	62626750	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	10433829	62626750	398770	165	31763											
BAGE2	85319	broad.mit.edu	37	chr21	11039053	11039053	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggagtcatttcagagtccatCaatccagtagaaagttcaga	9	8	4	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:11039053C>T	ENST00000470054.1	-	0	1150									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGAGTCCATCAATCCAGTAG	0.383													False	0	False	21:11039053	0	T	11039053	C	T	11039053	1	4	119	0	1	0	0	0	0	0	0	0	1296	841	29	2		2	BAGE2	21	11039053	RNA	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		11039053	37090842	166	31764											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666604	19666604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccatacacgcagtgtgcGgcggacaccagccagtcact	10	16	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:19666604G>A	ENST00000284885.3	-	21	2502	c.2469C>T	c.(2467-2469)gcC>gcT	p.A823A		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	823	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CGCAGTGTGCGGCGGACACCA	0.582													False	0	False	21:19666604	0	A	19666604	G	A	19666604	2	1	119	1	0	0	0	0	0	0	0	1	16328	1103	39	1		1	TMPRSS15	21	19666604	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	8627551	19666604	28463291	167	31765											
B3GALT5	10317	broad.mit.edu	37	chr21	41032648	41032648	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccagatacagactgcaggcaGacacctcccttcctcgtcct	7	17	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:41032648G>A	ENST00000380620.4	+	5	754	c.162G>A	c.(160-162)caG>caA	p.Q54Q	B3GALT5_ENST00000343118.4_Silent_p.Q54Q|B3GALT5_ENST00000380618.1_Silent_p.Q54Q|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Silent_p.Q54Q			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ACTGCAGGCAGACACCTCCCT	0.502													False	0	True	21:41032648	0	A	41032648	G	A	41032648	2	1	119	1	0	0	0	0	0	0	0	1	1254	933	33	2		2	B3GALT5	21	41032648	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	21366044	41032648	7097247	168	31766											
MCM3AP	8888	broad.mit.edu	37	chr21	47686068	47686068	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccaggaatgcagaccggttCagctccacacagctacccag	9	15	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:47686068C>T	ENST00000397708.1	-	12	3056	c.2802G>A	c.(2800-2802)ctG>ctA	p.L934L	MCM3AP_ENST00000291688.1_Silent_p.L934L			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	934					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAGACCGGTTCAGCTCCACAC	0.567													False	0	False	21:47686068	0	T	47686068	C	T	47686068	2	4	119	1	0	0	0	0	0	0	0	1	9455	813	29	2		2	MCM3AP	21	47686068	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	6653420	47686068	443827	169	31767											
IGLL5	100423062	broad.mit.edu	37	chr22	23237723	23237723	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggagtggagaccaccaAaccctccaaacagagcaaca	11	13	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:23237723A>C	ENST00000532223.2	+	3	771	c.497A>C	c.(496-498)aAa>aCa	p.K166T	IGLL5_ENST00000526893.1_Missense_Mutation_p.K165T|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5		C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GAGACCACCAAACCCTCCAAA	0.602													False	0	True	22:23237723	0	C	23237723	A	C	23237723	3	2	119	1	0	0	0	0	1	0	0	0	7644	14	1	4	504	4	IGLL5	22	23237723	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08		23237723	28066843	170	31768			1	19		2	2	14	N	G_A	7.768619e-05
IGLL5	100423062	broad.mit.edu	37	chr22	23237736	23237736	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accaccaaaccctccaaacaGagcaacaacaagtacgcggc	6	16	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:23237736G>A	ENST00000532223.2	+	3	784	c.510G>A	c.(508-510)caG>caA	p.Q170Q	IGLL5_ENST00000526893.1_Silent_p.Q169Q|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5		C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCTCCAAACAGAGCAACAACA	0.602													False	0	False	22:23237736	0	A	23237736	G	A	23237736	2	1	119	1	0	0	0	0	0	0	0	1	7644	933	33	2		2	IGLL5	22	23237736	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	13	23237736	28066830	171	31769			1	19		2	2	14	N	G_A	7.768619e-05
SEZ6L	23544	broad.mit.edu	37	chr22	26688941	26688941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccccagaggccagaacccGgggagcctgggcctgacatg	14	15	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:26688941G>A	ENST00000529632.2	+	2	860	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G222R|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G222R	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	222						endoplasmic reticulum membrane|integral to membrane		p.G222K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCCAGAACCCGGGGAGCCTGG	0.642													False	0	True	22:26688941	0	A	26688941	G	A	26688941	3	1	119	1	0	0	0	0	1	0	0	0	14224	1116	39	1	670	1	SEZ6L	22	26688941	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3451205	26688941	24615625	172	31770											
EIF3D	8664	broad.mit.edu	37	chr22	36915498	36915498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgacagtgtggaagatgCgcttgatgctccgcagtggc	16	8	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:36915498C>T	ENST00000216190.8	-	8	1035	c.665G>A	c.(664-666)cGc>cAc	p.R222H	EIF3D_ENST00000541106.1_Missense_Mutation_p.R173H|EIF3D_ENST00000405442.1_Missense_Mutation_p.R222H	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	222						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GTGGAAGATGCGCTTGATGCT	0.567													False	0	False	22:36915498	0	T	36915498	C	T	36915498	3	4	119	1	0	0	0	0	1	0	0	0	5046	768	27	1	1013	1	EIF3D	22	36915498	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	10226557	36915498	14389068	173	31771											
PHF5A	84844	broad.mit.edu	37	chr22	41863571	41863571	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcatcacatatgcgcaccaGagtgcagggacgcacatagg	11	12	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:41863571G>C	ENST00000216252.3	-	3	195	c.124C>G	c.(124-126)Ctg>Gtg	p.L42V	PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	42					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATGCGCACCAGAGTGCAGGGA	0.493													False	0	False	22:41863571	0	C	41863571	G	C	41863571	3	2	119	1	0	0	0	0	1	0	0	0	11906	933	33	5	216	5	PHF5A	22	41863571	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4948073	41863571	9440995	174	31772											
CERK	64781	broad.mit.edu	37	chr22	47087589	47087589	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagccggggagaggcccctGgggctccggcgacaagcaca	17	14	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:47087589G>T	ENST00000216264.8	-	11	1324	c.1212C>A	c.(1210-1212)ccC>ccA	p.P404P	CERK_ENST00000471929.1_5'UTR|CERK_ENST00000541677.1_Silent_p.P206P	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	404					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGAGGCCCCTGGGGCTCCGGC	0.557													False	0	True	22:47087589	0	T	47087589	G	T	47087589	2	4	119	1	0	0	0	0	0	0	0	1	3290	1335	47	3		3	CERK	22	47087589	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5224018	47087589	4216977	175	31773											
ZBED4	9889	broad.mit.edu	37	chr22	50279764	50279764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatcgggaagacgctgaaCgagggggagcactcgagcgt	17	9	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:50279764C>T	ENST00000216268.5	+	2	2931	c.2454C>T	c.(2452-2454)aaC>aaT	p.N818N		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGACGCTGAACGAGGGGGAGC	0.622													False	0	False	22:50279764	0	T	50279764	C	T	50279764	2	4	119	1	0	0	0	0	0	0	0	1	17603	535	19	1		1	ZBED4	22	50279764	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	3192175	50279764	1024802	176	31774											
ZNF645	158506	broad.mit.edu	37	chrX	22292031	22292031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatgtagttactcctaactCggttcgtagccaagtgccag	11	10	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:22292031C>T	ENST00000323684.1	+	1	967	c.923C>T	c.(922-924)tCg>tTg	p.S308L		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	308	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ACTCCTAACTCGGTTCGTAGC	0.448													False	0	False	X:22292031	0	T	22292031	C	T	22292031	3	4	119	1	0	0	0	0	1	0	0	0	18144	893	31	1	925	1	ZNF645	23	22292031	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		22292031	132978529	177	31775											
MAGEB4	4115	broad.mit.edu	37	chrX	30260943	30260943	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaatatgctggggatctatGatggaaagaggcaccttatc	12	6	1	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:30260943G>A	ENST00000378982.2	+	1	887	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	231	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GGGGATCTATGATGGAAAGAG	0.473													False	0	False	X:30260943	0	A	30260943	G	A	30260943	3	1	119	1	0	0	0	0	1	0	0	0	9245	1290	45	2	693	2	MAGEB4	23	30260943	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	7968912	30260943	125009617	178	31776											
SHROOM4	57477	broad.mit.edu	37	chrX	50377159	50377159	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttacatgaagatagaagAgatgtgttagaggcagtgag	13	2	0	6			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:50377159A>G	ENST00000376020.2	-	4	1939	c.1914T>C	c.(1912-1914)tcT>tcC	p.S638S	SHROOM4_ENST00000289292.7_Silent_p.S638S|SHROOM4_ENST00000460112.3_Silent_p.S522S	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	638					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AAGATAGAAGAGATGTGTTAG	0.522													False	0	False	X:50377159	0	G	50377159	A	G	50377159	2	3	119	1	0	0	0	0	0	0	0	1	14377	291	11	4		4	SHROOM4	23	50377159	Silent	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	20116216	50377159	104893401	179	31777											
TRO	7216	broad.mit.edu	37	chrX	54956406	54956406	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccagcttcagtggtgctgtCagcaccagtgcttgcttcag	12	12	3	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:54956406C>T	ENST00000173898.7	+	12	3361	c.3249C>T	c.(3247-3249)gtC>gtT	p.V1083V	TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Silent_p.V614V|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Silent_p.V686V|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1083	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTGGTGCTGTCAGCACCAGTG	0.592													False	0	False	X:54956406	0	T	54956406	C	T	54956406	2	4	119	1	0	0	0	0	0	0	0	1	16657	813	29	2		2	TRO	23	54956406	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	4579247	54956406	100314154	180	31778											
HDAC8	55869	broad.mit.edu	37	chrX	71788701	71788701	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcagtgtggaaggtggccatCtcctccatggaggccacttt	12	11	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:71788701C>T	ENST00000439122.2	-	3	484	c.198G>A	c.(196-198)gaG>gaA	p.E66E	HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373571.1_Silent_p.E66E|HDAC8_ENST00000373554.1_Silent_p.E66E|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373561.4_Silent_p.E66E|HDAC8_ENST00000373573.3_Silent_p.E66E|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373556.3_Silent_p.E66E|HDAC8_ENST00000373560.2_Silent_p.E66E|HDAC8_ENST00000373589.4_Intron	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	66	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	AGGTGGCCATCTCCTCCATGG	0.483													False	0	False	X:71788701	0	T	71788701	C	T	71788701	2	4	119	1	0	0	0	0	0	0	0	1	7060	912	32	2		2	HDAC8	23	71788701	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	16832295	71788701	83481859	181	31779											
TBC1D8B	54885	broad.mit.edu	37	chrX	106111641	106111641	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcttacactgaagtgaaatCtaaggatgcttcaaaaggag	10	6	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:106111641C>T	ENST00000357242.5	+	18	2921	c.2747C>T	c.(2746-2748)tCt>tTt	p.S916F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.S910F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	916						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAAGTGAAATCTAAGGATGCT	0.343													False	0	False	X:106111641	0	T	106111641	C	T	106111641	3	4	119	1	0	0	0	0	1	0	0	0	15708	913	32	2	2883	2	TBC1D8B	23	106111641	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	34322940	106111641	49158919	182	31780											
NXT2	55916	broad.mit.edu	37	chrX	108780167	108780167	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtattgatcattccgcagcCctgcggaccggacacgtgag	12	12	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:108780167C>T	ENST00000218004.1	+	2	199	c.97C>T	c.(97-99)Cct>Tct	p.P33S	NXT2_ENST00000372107.1_5'UTR|NXT2_ENST00000372106.1_5'UTR	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	0	NTF2.				mRNA transport|protein transport	cytoplasm|nucleus				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						ATTCCGCAGCCCTGCGGACCG	0.572													False	0	True	X:108780167	0	T	108780167	C	T	108780167	5	4	119	1	0	0	0	0	0	0	1	0	10863	637	22	2	103	2	NXT2	23	108780167	Splice_Site	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2668526	108780167	46490393	183	31781											
RGAG1	57529	broad.mit.edu	37	chrX	109697313	109697313	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctcttagaagagcaggaAgcagcccggggctcatgctc	12	12	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:109697313A>G	ENST00000465301.2	+	3	3714	c.3468A>G	c.(3466-3468)gaA>gaG	p.E1156E	RGAG1_ENST00000540313.1_Silent_p.E1156E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1156										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAGAGCAGGAAGCAGCCCGGG	0.512													False	0	False	X:109697313	0	G	109697313	A	G	109697313	2	3	119	1	0	0	0	0	0	0	0	1	13353	69	3	4		4	RGAG1	23	109697313	Silent	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	917146	109697313	45573247	184	31782											
IL9R	3581	broad.mit.edu	37	chrX	155239804	155239804	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcagagggcagcaggagcagCagcagcagcagcagcagcaa	15	11	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:155239804C>G	ENST00000424344.3	+	10	1600	c.1233C>G	c.(1231-1233)agC>agG	p.S411R	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.S432R|IL9R_ENST00000540897.1_3'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	432					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					gcaggagcagcagcagcagca	0.627													False	0	True	X:155239804	0	G	155239804	C	G	155239804	3	3	119	1	0	0	0	0	1	0	0	0	7758	709	25	5	1330	5	IL9R	23	155239804	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	45542491	155239804	30756	185	31783											
PEX14	5195	broad.mit.edu	37	chr1	10689967	10689967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggaggaccgccggggcGgggatgggcagatcaacgag	21	8	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:10689967G>A	ENST00000356607.4	+	9	1137	c.1057G>A	c.(1057-1059)Ggg>Agg	p.G353R	PEX14_ENST00000538836.1_Missense_Mutation_p.G289R	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	353					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CCGCCGGGGCGGGGATGGGCA	0.677													False	0	True	1:10689967	0	A	10689967	G	A	10689967	3	1	120	1	0	0	0	0	1	0	0	0	11811	1116	39	1	1091	1	PEX14	1	10689967	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08		10689967	238560654	1	31784											
MFSD2A	84879	broad.mit.edu	37	chr1	40434030	40434030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgcctgatgtcattgaCgacttccatctgaagcagcc	9	12	2	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:40434030C>T	ENST00000372809.5	+	12	1415	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	MFSD2A_ENST00000420632.2_Silent_p.D255D|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Silent_p.D411D	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	424					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ATGTCATTGACGACTTCCATC	0.537													False	0	False	1:40434030	0	T	40434030	C	T	40434030	2	4	120	1	0	0	0	0	0	0	0	1	9597	535	19	1		1	MFSD2A	1	40434030	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	29744063	40434030	208816591	2	31785											
CLCA1	1179	broad.mit.edu	37	chr1	86964283	86964283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatggaatccaccaagaccTgaaattaataaggatgatgt	8	7	0	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:86964283T>C	ENST00000234701.3	+	14	2493	c.2142T>C	c.(2140-2142)ccT>ccC	p.P714P	CLCA1_ENST00000394711.1_Silent_p.P714P			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	714					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CACCAAGACCTGAAATTAATA	0.393													False	0	False	1:86964283	0	C	86964283	T	C	86964283	2	2	120	1	0	0	0	0	0	0	0	1	3480	1567	55	4		4	CLCA1	1	86964283	Silent	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08	46530253	86964283	162286338	3	31786											
SORT1	6272	broad.mit.edu	37	chr1	109865648	109865648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggatgacttgcgtagccGcagaaactgttctttgtagc	11	10	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:109865648G>A	ENST00000256637.6	-	15	1988	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W	SORT1_ENST00000538502.1_Missense_Mutation_p.R507W	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	644	Interactions with LRPAP1 and NGFB.				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTGCGTAGCCGCAGAAACTGT	0.488													False	0	False	1:109865648	0	A	109865648	G	A	109865648	3	1	120	1	0	0	0	0	1	0	0	0	15015	1086	38	1	589	1	SORT1	1	109865648	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	22901365	109865648	139384973	4	31787											
CASQ2	845	broad.mit.edu	37	chr1	116243875	116243877	+	In_Frame_Del	DEL	TCG	TCG	-													agttgggctattcatcatcaTcgtcatcactgtcatcatta					rs7413162	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:116243875_116243877delTCG	ENST00000261448.5	-	11	1424_1426	c.1185_1187delCGA	c.(1183-1188)gacgat>gat	p.395_396DD>D	CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	395	Asp/Glu-rich (acidic).				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		Ttcatcatcatcgtcatcactgt	0.404													False	1	True	1:116243875	0	-	116243877	TCG	-	116243875	7	5	120	1	0	1	0	1	0	0	0	0	2701	1435	50	0	16	0	CASQ2	1	116243875	In_Frame_Del	DEL	TCG	TCGA-LB-A8F3-01A-11D-A36O-08	6378227	116243875	133006746	5	31788											
NBPF14	25832	broad.mit.edu	37	chr1	148012526	148012527	+	Frame_Shift_Ins	INS	-	-	AGAT													cacgtcaagagaaaagccaaINScatgcttttcctccaatgca							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:148012526_148012527insAGAT	ENST00000369219.1	-	12	1448_1449	c.1432_1433insATCT	c.(1432-1434)gttfs	p.V478fs				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	478	NBPF 5.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGAAAAGCCAACATGCTTTTCC	0.45													False	0	False	1:148012526	0	AGAT	148012527	-	AGAT	148012526	7	5	120	1	0	1	1	0	0	0	0	0	10262	43	2	0	1376	0	NBPF14	1	148012526	Frame_Shift_Ins	INS	-	TCGA-LB-A8F3-01A-11D-A36O-08	31768651	148012526	101238095	6	31789											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	120	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-LB-A8F3-01A-11D-A36O-08	4658989	152671515	96579106	7	31790											
SPRR4	163778	broad.mit.edu	37	chr1	152944387	152944389	+	In_Frame_Del	DEL	GCG	GCG	-													atgtcttcccagcagcagcaGcggcagcagcagcagtgccc					rs73010454	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	GCG	GCG	-	-	GCG	GCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:152944387_152944389delGCG	ENST00000328051.2	+	2	70_72	c.21_23delGCG	c.(19-24)cagcgg>cag	p.R8del		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	8	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcagcggcagcagcag	0.552													False	1	True	1:152944387	0	-	152944389	GCG	-	152944387	7	5	120	1	0	1	0	1	0	0	0	0	15186	962	34	0	23	0	SPRR4	1	152944387	In_Frame_Del	DEL	GCG	TCGA-LB-A8F3-01A-11D-A36O-08	272872	152944387	96306234	8	31791											
CD1B	910	broad.mit.edu	37	chr1	158299919	158299919	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccctggatctcaaagggGtctatgtagagggaaaagag	14	6	2	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:158299919G>A	ENST00000368168.3	-	3	437	c.328_splice	c.e3-1	p.Y110_splice		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	110					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TCTCAAAGGGGTCTATGTAGA	0.428													False	0	True	1:158299919	0	A	158299919	G	A	158299919	5	1	120	1	0	0	0	0	0	0	1	0	2998	1275	44	2	687	2	CD1B	1	158299919	Splice_Site	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	5355532	158299919	90950702	9	31792											
MAEL	84944	broad.mit.edu	37	chr1	166987189	166987189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtattggatgcagggcGttaccaggtaaggaactgac	15	6	0	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:166987189G>A	ENST00000367872.4	+	10	1278	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.R314H	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	345					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GATGCAGGGCGTTACCAGGTA	0.443													False	0	False	1:166987189	0	A	166987189	G	A	166987189	3	1	120	1	0	0	0	0	1	0	0	0	9217	1145	40	1	1072	1	MAEL	1	166987189	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	8687270	166987189	82263432	10	31793											
DPT	1805	broad.mit.edu	37	chr1	168698178	168698178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgaggctctgtggcgtggGcatgcaggcgtagttccatt	15	11	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:168698178G>A	ENST00000367817.3	-	1	324	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	79	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TGTGGCGTGGGCATGCAGGCG	0.602													False	0	True	1:168698178	0	A	168698178	G	A	168698178	3	1	120	1	0	0	0	0	1	0	0	0	4769	1203	42	2	386	2	DPT	1	168698178	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	1710989	168698178	80552443	11	31794											
FAM5B	0	broad.mit.edu	37	chr1	177245375	177245375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatctgcgtgagcgctttGtagctgcagcactcagctac	11	11	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:177245375G>A	ENST00000361539.4	+	6	1129	c.817G>A	c.(817-819)Gta>Ata	p.V273I	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		273						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGAGCGCTTTGTAGCTGCAGC	0.552													False	0	True	1:177245375	0	A	177245375	G	A	177245375	3	1	120	1	0	0	0	0	1	0	0	0	5633	1377	48	2	835	2	FAM5B	1	177245375	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	8547197	177245375	72005246	12	31795											
NAV1	89796	broad.mit.edu	37	chr1	201777998	201777998	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagtcttgcagacacAggtacctgtgtgggagaaga	14	10	1	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:201777998A>G	ENST00000367296.4	+	20	4626	c.4207_splice	c.e20+1	p.T1402_splice	NAV1_ENST00000367297.4_Splice_Site_p.T1394_splice|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Splice_Site_p.T1399_splice|NAV1_ENST00000367302.1_Splice_Site_p.T1355_splice|NAV1_ENST00000367300.3_Splice_Site_p.T1342_splice|NAV1_ENST00000367295.1_Splice_Site_p.T1008_splice	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1402					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTGCAGACACAGGTACCTGTG	0.537													False	0	False	1:201777998	0	G	201777998	A	G	201777998	5	3	120	1	0	0	0	0	0	0	1	0	10250	202	7	4	4341	4	NAV1	1	201777998	Splice_Site	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	24532623	201777998	47472623	13	31796											
PIK3C2B	5287	broad.mit.edu	37	chr1	204412697	204412697	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggtagcggatgctgaactGagagtccttgaggccgtcct	14	10	0	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:204412697G>A	ENST00000367187.3	-	20	3452	c.2896C>T	c.(2896-2898)Cag>Tag	p.Q966*	PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.Q938*	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	966					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATGCTGAACTGAGAGTCCTTG	0.567													False	0	False	1:204412697	0	A	204412697	G	A	204412697	4	1	120	1	0	0	0	0	0	1	0	0	11979	1299	45	2	2068	2	PIK3C2B	1	204412697	Nonsense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	2634699	204412697	44837924	14	31797											
PLXNA2	5362	broad.mit.edu	37	chr1	208218554	208218554	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagggcagaggtttttgCcctgtagagaatagcagtct	14	7	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:208218554C>T	ENST00000367033.3	-	19	4254	c.3495_splice	c.e19-1	p.G1166_splice		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1166	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAGGTTTTTGCCCTGTAGAGA	0.498													False	0	True	1:208218554	0	T	208218554	C	T	208218554	5	4	120	1	0	0	0	0	0	0	1	0	12189	753	26	2	2243	2	PLXNA2	1	208218554	Splice_Site	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	3805857	208218554	41032067	15	31798											
OBSCN	84033	broad.mit.edu	37	chr1	228495118	228495118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggccccaagtacgagatgCggagccagggggccacgcgg	18	13	0	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:228495118C>T	ENST00000570156.2	+	57	15297	c.15223C>T	c.(15223-15225)Cgg>Tgg	p.R5075W	OBSCN_ENST00000422127.1_Missense_Mutation_p.R4118W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4118W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1752W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1237W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4118					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTACGAGATGCGGAGCCAGGG	0.662													False	0	False	1:228495118	0	T	228495118	C	T	228495118	3	4	120	1	0	0	0	0	1	0	0	0	10880	759	27	1	12530	1	OBSCN	1	228495118	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	20276564	228495118	20755503	16	31799											
ARID4B	51742	broad.mit.edu	37	chr1	235377276	235377281	+	In_Frame_Del	DEL	TCTTCC	TCTTCC	-													catcttcatcctcttcttctTcttcctcctcctcctcctct					rs141683553	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	TCTTCC	TCTTCC	-	-	TCTTCC	TCTTCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:235377276_235377281delTCTTCC	ENST00000264183.3	-	17	2141_2146	c.1644_1649delGGAAGA	c.(1642-1650)gaggaagaa>gaa	p.548_550EEE>E	ARID4B_ENST00000366603.2_In_Frame_Del_p.548_550EEE>E|ARID4B_ENST00000349213.3_Intron	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	548	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.E548E(2)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ctcttcttcttcttcctcctcctcct	0.408													False	1	True	1:235377276	0	-	235377281	TCTTCC	-	235377276	7	5	120	1	0	1	0	1	0	0	0	0	922	1783	62	0	2321	0	ARID4B	1	235377276	In_Frame_Del	DEL	TCTTCC	TCGA-LB-A8F3-01A-11D-A36O-08	6882158	235377276	13873345	17	31800											
SLC1A4	6509	broad.mit.edu	37	chr2	65243676	65243676	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggaaatacatcttcgcatcTatattgggccatgttattca	8	8	3	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:65243676T>A	ENST00000234256.3	+	5	1146	c.903T>A	c.(901-903)tcT>tcA	p.S301S	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	301					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TCTTCGCATCTATATTGGGCC	0.458													False	0	False	2:65243676	0	A	65243676	T	A	65243676	2	1	120	1	0	0	0	0	0	0	0	1	14515	1509	53	5		5	SLC1A4	2	65243676	Silent	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08		65243676	177955697	18	31801											
CNGA3	1261	broad.mit.edu	37	chr2	99013711	99013711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaaaaacagaggacaaacAacagtgaaaatgcagcatct	7	8	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:99013711A>G	ENST00000393504.1	+	8	2495	c.2078A>G	c.(2077-2079)cAa>cGa	p.Q693R	CNGA3_ENST00000409937.1_Missense_Mutation_p.Q697R|CNGA3_ENST00000436404.2_Missense_Mutation_p.Q675R|CNGA3_ENST00000272602.2_Missense_Mutation_p.Q693R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	693					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAGGACAAACAACAGTGAAAA	0.562													False	0	True	2:99013711	0	G	99013711	A	G	99013711	3	3	120	1	0	0	0	0	1	0	0	0	3621	130	5	4	2104	4	CNGA3	2	99013711	Missense_Mutation	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	33770035	99013711	144185662	19	31802											
FAM171B	165215	broad.mit.edu	37	chr2	187626909	187626909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaggtcaacagagcctgCcatcccaggcttcagattgg	11	11	2	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:187626909C>T	ENST00000304698.5	+	8	2043	c.1840C>T	c.(1840-1842)Cca>Tca	p.P614S		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	614						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACAGAGCCTGCCATCCCAGGC	0.483													False	0	False	2:187626909	0	T	187626909	C	T	187626909	3	4	120	1	0	0	0	0	1	0	0	0	5527	739	26	2	1870	2	FAM171B	2	187626909	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	88613198	187626909	55572464	20	31803											
MYO1B	4430	broad.mit.edu	37	chr2	192261178	192261178	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaagaggtaccagcagacAaagagttccgccttagtaat	9	9	0	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:192261178A>G	ENST00000392318.3	+	21	2497	c.2250A>G	c.(2248-2250)acA>acG	p.T750T	MYO1B_ENST00000339514.4_Silent_p.T750T|MYO1B_ENST00000392316.1_Silent_p.T750T|MYO1B_ENST00000304164.4_Silent_p.T750T|MYO1B_ENST00000439065.2_Silent_p.T24T	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	750	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACCAGCAGACAAAGAGTTCCG	0.368													False	0	True	2:192261178	0	G	192261178	A	G	192261178	2	3	120	1	0	0	0	0	0	0	0	1	10136	117	5	4		4	MYO1B	2	192261178	Silent	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	4634269	192261178	50938195	21	31804											
MPP4	58538	broad.mit.edu	37	chr2	202552087	202552087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggggtttcacgtaataacTccactacctggttcatggaa	9	9	2	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:202552087T>C	ENST00000409474.3	-	5	494	c.287A>G	c.(286-288)gAg>gGg	p.E96G	MPP4_ENST00000428900.2_Missense_Mutation_p.E96G|MPP4_ENST00000409143.1_Intron|MPP4_ENST00000396886.3_Missense_Mutation_p.E96G|MPP4_ENST00000359962.5_Missense_Mutation_p.E96G|MPP4_ENST00000315506.7_Missense_Mutation_p.E96G|MPP4_ENST00000447335.2_Missense_Mutation_p.E96G	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	96	L27 2.					cytoplasm	protein binding			kidney(1)|lung(11)	12						ACGTAATAACTCCACTACCTG	0.393													False	0	False	2:202552087	0	C	202552087	T	C	202552087	3	2	120	1	0	0	0	0	1	0	0	0	9803	1551	54	4	1698	4	MPP4	2	202552087	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08	10290909	202552087	40647286	22	31805											
XRCC5	7520	broad.mit.edu	37	chr2	216990661	216990661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagtctgagaaaactgtgCgtcttcaagaaaattgagag	12	5	3	4			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:216990661C>T	ENST00000392133.3	+	9	1166	c.705C>T	c.(703-705)tgC>tgT	p.C235C	XRCC5_ENST00000392132.2_Silent_p.C235C			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	235					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GAAAACTGTGCGTCTTCAAGA	0.368								Non-homologous end-joining					False	0	False	2:216990661	0	T	216990661	C	T	216990661	2	4	120	1	0	0	0	0	0	0	0	1	17540	776	27	1		1	XRCC5	2	216990661	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	14438574	216990661	26208712	23	31806											
RFTN1	23180	broad.mit.edu	37	chr3	16475415	16475415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaggggcgtcttctccCgctcatgggtgggctgcacg	15	14	3	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:16475415C>T	ENST00000334133.4	-	3	547	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	RFTN1_ENST00000432519.1_Missense_Mutation_p.R56Q	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	92						plasma membrane		p.R92L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CGTCTTCTCCCGCTCATGGGT	0.632													False	0	True	3:16475415	0	T	16475415	C	T	16475415	3	4	120	1	0	0	0	0	1	0	0	0	13337	652	23	1	1493	1	RFTN1	3	16475415	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		16475415	181547015	24	31807											
MST1R	4486	broad.mit.edu	37	chr3	49932677	49932677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgacctcagccaagagcGcagagtccaggtcccttagc	10	15	1	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:49932677G>A	ENST00000296474.3	-	14	3221	c.3194C>T	c.(3193-3195)gCg>gTg	p.A1065V	MST1R_ENST00000344206.4_Missense_Mutation_p.A1016V	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1065					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGCCAAGAGCGCAGAGTCCAG	0.577													False	0	False	3:49932677	0	A	49932677	G	A	49932677	3	1	120	1	0	0	0	0	1	0	0	0	9958	1087	38	1	1036	1	MST1R	3	49932677	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	33457262	49932677	148089753	25	31808											
ATXN7	6314	broad.mit.edu	37	chr3	63965627	63965627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagcaagccgcctttggCcgttcctcccacttcagtat	7	16	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:63965627C>T	ENST00000398590.3	+	6	1089	c.536C>T	c.(535-537)gCc>gTc	p.A179V	ATXN7_ENST00000538065.1_Missense_Mutation_p.A179V|ATXN7_ENST00000488239.1_3'UTR|ATXN7_ENST00000487717.1_Missense_Mutation_p.A179V|ATXN7_ENST00000484332.1_Missense_Mutation_p.A34V|ATXN7_ENST00000295900.6_Missense_Mutation_p.A179V	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	179	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCGCCTTTGGCCGTTCCTCCC	0.443													False	0	False	3:63965627	0	T	63965627	C	T	63965627	3	4	120	1	0	0	0	0	1	0	0	0	1219	739	26	2	618	2	ATXN7	3	63965627	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	14032950	63965627	134056803	26	31809											
GATA2	2624	broad.mit.edu	37	chr3	128200783	128200783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgccggctcttctggcgGccgactgggagggcaaggca	18	11	2	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:128200783G>A	ENST00000341105.2	-	5	1353	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.A341V|GATA2_ENST00000430265.2_Intron	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	341					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.A341_G346del(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TCTTCTGGCGGCCGACTGGGA	0.667			Mis		AML(CML blast transformation)								False	0	False	3:128200783	0	A	128200783	G	A	128200783	3	1	120	1	0	0	0	0	1	0	0	0	6297	1203	42	2	428	2	GATA2	3	128200783	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	64235156	128200783	69821647	27	31810											
SAMD7	344658	broad.mit.edu	37	chr3	169644499	169644499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgctccctgccggtgaccTgcattttcacagaagcaccc	8	16	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:169644499T>C	ENST00000428432.2	+	6	838	c.449T>C	c.(448-450)cTg>cCg	p.L150P	SAMD7_ENST00000335556.3_Missense_Mutation_p.L150P	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	150										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GCCGGTGACCTGCATTTTCAC	0.592													False	0	False	3:169644499	0	C	169644499	T	C	169644499	3	2	120	1	0	0	0	0	1	0	0	0	13903	1580	55	4	463	4	SAMD7	3	169644499	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08	41443716	169644499	28377931	28	31811											
NCEH1	57552	broad.mit.edu	37	chr3	172353825	172353825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaaatactttgtggcccGtacaacatcatgaatttgct	8	9	1	1	rs149894663		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:172353825G>A	ENST00000475381.1	-	4	723	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	NCEH1_ENST00000543711.1_Missense_Mutation_p.R31W|NCEH1_ENST00000538775.1_Missense_Mutation_p.R204W|NCEH1_ENST00000273512.3_Missense_Mutation_p.R196W			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	164					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TTTGTGGCCCGTACAACATCA	0.403													False	0	True	3:172353825	0	A	172353825	G	A	172353825	3	1	120	1	0	0	0	0	1	0	0	0	10283	1144	40	1	744	1	NCEH1	3	172353825	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	2709326	172353825	25668605	29	31812											
CRIPAK	285464	broad.mit.edu	37	chr4	1388962	1388963	+	Frame_Shift_Del	DEL	CA	CA	-													atgtggagtgttcgcctgctCacacgtgccgatgcggagtg					rs71299249		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:1388962_1388963delCA	ENST00000324803.4	+	1	3623_3624	c.663_664delCA	c.(661-666)ctcacafs	p.T222fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	222					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TTCGCCTGCTCACACGTGCCGA	0.668													False	2	False	4:1388962	0	-	1388963	CA	-	1388962	7	5	120	1	0	1	0	1	0	0	0	0	3900	813	29	0	665	0	CRIPAK	4	1388962	Frame_Shift_Del	DEL	CA	TCGA-LB-A8F3-01A-11D-A36O-08		1388962	189765314	30	31813											
SH3TC1	54436	broad.mit.edu	37	chr4	8230216	8230216	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggaggccgtgcggcTgttctcgaggctgccccttg	14	15	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:8230216T>A	ENST00000539824.1	+	12	2941	c.2567T>A	c.(2566-2568)cTg>cAg	p.L856Q	SH3TC1_ENST00000245105.3_Missense_Mutation_p.L932Q			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	932							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCCGTGCGGCTGTTCTCGAGG	0.706													False	0	False	4:8230216	0	A	8230216	T	A	8230216	3	1	120	1	0	0	0	0	1	0	0	0	14342	1580	55	5	2837	5	SH3TC1	4	8230216	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08	6841254	8230216	182924060	31	31814											
FRAS1	80144	broad.mit.edu	37	chr4	79396679	79396679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgccatcgtcctgtgtcgCaccgagcaaggcaccgccag	11	15	0	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:79396679C>T	ENST00000264895.6	+	54	8210	c.7770C>T	c.(7768-7770)cgC>cgT	p.R2590R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2589	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCCTGTGTCGCACCGAGCAAG	0.582													False	0	False	4:79396679	0	T	79396679	C	T	79396679	2	4	120	1	0	0	0	0	0	0	0	1	6084	697	25	2		2	FRAS1	4	79396679	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	71166463	79396679	111757597	32	31815											
WDFY3	23001	broad.mit.edu	37	chr4	85678099	85678099	+	Frame_Shift_Del	DEL	G	G	-													ctggcaaccctgcttactccGgcagctgatgacaggcacac					rs138292353		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:85678099delG	ENST00000295888.4	-	33	5811	c.5404delC	c.(5404-5406)cggfs	p.R1802fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.R1802fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1802						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGCTTACTCCGGCAGCTGATG	0.488													False	2	False	4:85678099	0	-	85678099	G	-	85678099	7	5	120	1	0	1	0	1	0	0	0	0	17354	1115	39	0	5320	0	WDFY3	4	85678099	Frame_Shift_Del	DEL	G	TCGA-LB-A8F3-01A-11D-A36O-08	6281420	85678099	105476177	33	31816											
MFSD8	256471	broad.mit.edu	37	chr4	128861111	128861112	+	Frame_Shift_Ins	INS	-	-	CA													agtttaatcacatcccatgtINScacacctttttctccaagga							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:128861111_128861112insCA	ENST00000296468.3	-	7	721_722	c.594_595insTG	c.(592-597)gtgacafs	p.T199fs	MFSD8_ENST00000541133.1_Intron|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Frame_Shift_Ins_p.T154fs	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	199					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ACATCCCATGTCACACCTTTTT	0.307													False	2	False	4:128861111	0	CA	128861112	-	CA	128861111	7	5	120	1	0	1	1	0	0	0	0	0	9605	1667	58	0	989	0	MFSD8	4	128861111	Frame_Shift_Ins	INS	-	TCGA-LB-A8F3-01A-11D-A36O-08	43183012	128861111	62293165	34	31817											
CPE	1363	broad.mit.edu	37	chr4	166418761	166418761	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaaactttaaatttttAaaaaggcttctagttagctg	7	5	2	1	rs34858186		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:166418761A>T	ENST00000402744.4	+	9	1710	c.1430A>T	c.(1429-1431)tAa>tTa	p.*477L		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	0					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTAAATTTTTAAAAAGGCTTC	0.299													False	0	True	4:166418761	0	T	166418761	A	T	166418761	4	4	120	1	0	0	0	0	0	0	0	0	3822	369	13	5	1464	5	CPE	4	166418761	Nonstop_Mutation	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	37557650	166418761	24735515	35	31818											
TRIML2	205860	broad.mit.edu	37	chr4	189018255	189018255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgagtcctcttatgtgGcataaactcaggtctgtgat	10	9	3	2	rs144128750		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:189018255G>A	ENST00000512729.1	-	6	929	c.555C>T	c.(553-555)tgC>tgT	p.C185C	TRIML2_ENST00000326754.3_Silent_p.C210C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	185	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTCTTATGTGGCATAAACTCA	0.493													False	0	False	4:189018255	0	A	189018255	G	A	189018255	2	1	120	1	0	0	0	0	0	0	0	1	16634	1195	42	2		2	TRIML2	4	189018255	Silent	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	22599494	189018255	2136021	36	31819											
SLC6A19	340024	broad.mit.edu	37	chr5	1201792	1201792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctcgtgctgcccaacccCggcctagacgcccggatccc	11	19	0	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:1201792C>T	ENST00000304460.10	+	1	83	c.27C>T	c.(25-27)ccC>ccT	p.P9P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	9					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCCCAACCCCGGCCTAGACG	0.697													False	0	True	5:1201792	0	T	1201792	C	T	1201792	2	4	120	1	0	0	0	0	0	0	0	1	14762	639	23	1		1	SLC6A19	5	1201792	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		1201792	179713468	37	31820											
TAS2R1	50834	broad.mit.edu	37	chr5	9629850	9629850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacaatagaaaacgccgaGccatgtggcaagccaaagtt	11	10	0	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:9629850G>A	ENST00000382492.2	-	1	613	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	99					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AAAACGCCGAGCCATGTGGCA	0.433													False	0	False	5:9629850	0	A	9629850	G	A	9629850	3	1	120	1	0	0	0	0	1	0	0	0	15647	971	34	2	608	2	TAS2R1	5	9629850	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	8428058	9629850	171285410	38	31821											
CDH9	1007	broad.mit.edu	37	chr5	26890658	26890658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacggtccatatcagtatgCcgatcaacagagtacctggc	9	11	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:26890658C>T	ENST00000231021.4	-	8	1441	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	423	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TATCAGTATGCCGATCAACAG	0.388													False	0	False	5:26890658	0	T	26890658	C	T	26890658	2	4	120	1	0	0	0	0	0	0	0	1	3140	726	26	2		2	CDH9	5	26890658	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	17260808	26890658	154024602	39	31822											
ACTBL2	345651	broad.mit.edu	37	chr5	56778497	56778497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcacatccctgacccaTtatccactaccaaggcagac	5	17	0	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:56778497T>C	ENST00000423391.1	-	1	139	c.38A>G	c.(37-39)aAt>aGt	p.N13S	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	13						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CCCTGACCCATTATCCACTAC	0.542													False	0	False	5:56778497	0	C	56778497	T	C	56778497	3	2	120	1	0	0	0	0	1	0	0	0	194	1493	52	4	1096	4	ACTBL2	5	56778497	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08	29887839	56778497	124136763	40	31823											
GPR98	84059	broad.mit.edu	37	chr5	89979973	89979973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctgtctttatcgaactaCtcaactctactttagtagcg	5	10	4	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:89979973C>T	ENST00000405460.2	+	28	6331	c.6235C>T	c.(6235-6237)Ctc>Ttc	p.L2079F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2079					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATCGAACTACTCAACTCTAC	0.363													False	0	False	5:89979973	0	T	89979973	C	T	89979973	3	4	120	1	0	0	0	0	1	0	0	0	6768	565	20	2	6345	2	GPR98	5	89979973	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	33201476	89979973	90935287	41	31824											
DIAPH1	1729	broad.mit.edu	37	chr5	140963116	140963116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagcagaggcatatcccGcaagcctgacctcaactcct	9	15	1	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:140963116G>A	ENST00000253811.6	-	5	609	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	DIAPH1_ENST00000398557.4_Missense_Mutation_p.R157W|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R148W|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R157W|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R148W|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R148W|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R103W|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R148W			O60610	DIAP1_HUMAN	diaphanous-related formin 1	157	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATATCCCGCAAGCCTGAC	0.512													False	0	True	5:140963116	0	A	140963116	G	A	140963116	3	1	120	1	0	0	0	0	1	0	0	0	4548	1086	38	1	3445	1	DIAPH1	5	140963116	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	50983143	140963116	39952144	42	31825											
ZNF184	7738	broad.mit.edu	37	chr6	27419236	27419236	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaaagtctttctgcattcaTtacagttataaggtttctct	5	7	4	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:27419236T>A	ENST00000211936.6	-	6	2386	c.2102A>T	c.(2101-2103)aAt>aTt	p.N701I	ZNF184_ENST00000377419.1_Missense_Mutation_p.N701I	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	701					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTGCATTCATTACAGTTATA	0.403													False	0	True	6:27419236	0	A	27419236	T	A	27419236	3	1	120	1	0	0	0	0	1	0	0	0	17834	1493	52	5	157	5	ZNF184	6	27419236	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08		27419236	143695831	43	31826											
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861401	27861401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtccaccccgacaccgGcatctcatcgaaggccatgg	10	16	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:27861401G>A	ENST00000303806.4	+	1	199	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	54					nucleosome assembly	nucleosome|nucleus	DNA binding										CCCGACACCGGCATCTCATCG	0.557													False	0	False	6:27861401	0	A	27861401	G	A	27861401	3	1	120	1	0	0	0	0	1	0	0	0	7201	1203	42	2	163	2	HIST1H2BO	6	27861401	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	442165	27861401	143253666	44	31827											
OR10C1	442194	broad.mit.edu	37	chr6	29408448	29408448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctgggctcctacgggcGtatcctcgttaccatcttcc	8	16	1	0	rs74711365		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:29408448G>A	ENST00000444197.2	+	1	1366	c.656G>A	c.(655-657)cGt>cAt	p.R219H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTACGGGCGTATCCTCGTT	0.582													False	0	False	6:29408448	0	A	29408448	G	A	29408448	3	1	120	1	0	0	0	0	1	0	0	0	10966	1145	40	1	658	1	OR10C1	6	29408448	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	1547047	29408448	141706619	45	31828											
CCDC28A	25901	broad.mit.edu	37	chr6	139101019	139101019	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggcgctcagtcaactccGatccagcactccttcctcac	6	17	3	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:139101019G>A	ENST00000332797.6	+	3	644	c.489G>A	c.(487-489)ccG>ccA	p.P163P		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	163										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AGTCAACTCCGATCCAGCACT	0.453													False	0	False	6:139101019	0	A	139101019	G	A	139101019	2	1	120	1	0	0	0	0	0	0	0	1	2823	1045	37	1		1	CCDC28A	6	139101019	Silent	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	109692571	139101019	32014048	46	31829											
IYD	389434	broad.mit.edu	37	chr6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagtacatggtttcgccGcaaatggcaagaaaaaagtc	9	8	0	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433													False	0	False	6:150715311	0	A	150715311	G	A	150715311	3	1	120	1	0	0	0	0	1	0	0	0	7982	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	11614292	150715311	20399756	47	31830											
SP4	6671	broad.mit.edu	37	chr7	21469543	21469544	+	Frame_Shift_Ins	INS	-	-	T													tggtactcaggctcaagttgINStaacaaccctaccaattaac							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:21469543_21469544insT	ENST00000222584.3	+	3	978_979	c.760_761insT	c.(760-762)gtafs	p.V254fs		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	254					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GGCTCAAGTTGTAACAACCCTA	0.5													False	1	False	7:21469543	0	T	21469544	-	T	21469543	7	5	120	1	0	1	1	0	0	0	0	0	15046	1377	48	0	770	0	SP4	7	21469543	Frame_Shift_Ins	INS	-	TCGA-LB-A8F3-01A-11D-A36O-08		21469543	137669120	48	31831											
TYW1B	441250	broad.mit.edu	37	chr7	72277910	72277910	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgactcatcacacgatgcaCgccaagcatccagagccact	7	16	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:72277910C>T	ENST00000438125.1	-	0	336							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										ACACGATGCACGCCAAGCATC	0.498													False	0	False	7:72277910	0	T	72277910	C	T	72277910	1	4	120	0	1	0	0	0	0	0	0	0	16903	536	19	1		1	TYW1B	7	72277910	RNA	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	50808367	72277910	86860753	49	31832											
WBSCR28	135886	broad.mit.edu	37	chr7	73279489	73279489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaggctctctgggctgGgctggctctgatacaggtcc	16	12	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:73279489G>A	ENST00000320531.2	+	2	275	c.239G>A	c.(238-240)gGg>gAg	p.G80E		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	80						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CTCTGGGCTGGGCTGGCTCTG	0.697													False	0	True	7:73279489	0	A	73279489	G	A	73279489	3	1	120	1	0	0	0	0	1	0	0	0	17351	1232	43	2	245	2	WBSCR28	7	73279489	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	1001579	73279489	85859174	50	31833											
ZSCAN21	7589	broad.mit.edu	37	chr7	99662020	99662020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagcttcagtcagcatgCgggcctcagctcccaccaga	11	14	3	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:99662020C>T	ENST00000292450.4	+	4	1366	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R367W|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R367W	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	401					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTCAGCATGCGGGCCTCAGC	0.522													False	0	True	7:99662020	0	T	99662020	C	T	99662020	3	4	120	1	0	0	0	0	1	0	0	0	18315	768	27	1	1212	1	ZSCAN21	7	99662020	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	26382531	99662020	59476643	51	31834											
LRRN3	54674	broad.mit.edu	37	chr7	110763403	110763403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttccaaatctagagaTtctgatgattggggaaaatc	9	7	3	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:110763403T>C	ENST00000451085.1	+	4	1621	c.575T>C	c.(574-576)aTt>aCt	p.I192T	LRRN3_ENST00000308478.5_Missense_Mutation_p.I192T|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.I192T|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	192						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AATCTAGAGATTCTGATGATT	0.373													False	0	False	7:110763403	0	C	110763403	T	C	110763403	3	2	120	1	0	0	0	0	1	0	0	0	9098	1493	52	4	577	4	LRRN3	7	110763403	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08	11101383	110763403	48375260	52	31835											
OR2A7	401427	broad.mit.edu	37	chr7	143956698	143956698	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccagtaggaggaactctgtGatggatgttatattgtcccc	11	9	1	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:143956698G>T	ENST00000493325.1	-	1	117	c.24C>A	c.(22-24)atC>atA	p.I8I	RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000476560.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GGAACTCTGTGATGGATGTTA	0.448													False	0	True	7:143956698	0	T	143956698	G	T	143956698	2	4	120	1	0	0	0	0	0	0	0	1	11050	1280	45	3		3	OR2A7	7	143956698	Silent	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	33193295	143956698	15181965	53	31836											
ADAM2	2515	broad.mit.edu	37	chr8	39626997	39626997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgaaaaaaggatctaagcGaggctgattgtgaagacact	11	5	1	4			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr8:39626997G>A	ENST00000265708.4	-	12	1229	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	ADAM2_ENST00000521880.1_Missense_Mutation_p.R376C|ADAM2_ENST00000379853.2_Missense_Mutation_p.R250C|ADAM2_ENST00000347580.4_Missense_Mutation_p.R357C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	376					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGATCTAAGCGAGGCTGATTG	0.433													False	0	False	8:39626997	0	A	39626997	G	A	39626997	3	1	120	1	0	0	0	0	1	0	0	0	241	1058	37	1	1117	1	ADAM2	8	39626997	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08		39626997	106737025	54	31837											
SAMD12	401474	broad.mit.edu	37	chr8	119391680	119391680	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctgtatactattttctatGatggaaattctgtgaagaaa	7	4	3	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr8:119391680G>A	ENST00000314727.4	-	4	718	c.582C>T	c.(580-582)atC>atT	p.I194I	SAMD12_ENST00000409003.4_Intron|SAMD12_ENST00000527515.1_Intron|AC023590.1_ENST00000430457.1_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	194										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TATTTTCTATGATGGAAATTC	0.368													False	0	False	8:119391680	0	A	119391680	G	A	119391680	2	1	120	1	0	0	0	0	0	0	0	1	13896	1280	45	2		2	SAMD12	8	119391680	Silent	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	79764683	119391680	26972342	55	31838											
CBWD1	55871	broad.mit.edu	37	chr9	164038	164038	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaacatagaagccactgcacCtgaaaatatataatattcat	4	8	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284													False	0	False	9:164038	0	G	164038	C	G	164038	5	3	120	1	0	0	0	0	0	0	1	0	2732	695	24	5	801	5	CBWD1	9	164038	Splice_Site	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		164038	141049393	56	31839											
VLDLR	7436	broad.mit.edu	37	chr9	2641436	2641436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccattctactcagtgtatcCcagtgtcctggagatgtgat	9	11	2	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:2641436C>T	ENST00000382100.2	+	4	741	c.385C>T	c.(385-387)Cca>Tca	p.P129S	VLDLR_ENST00000382099.2_Missense_Mutation_p.P129S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	129	LDL-receptor class A 3.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TCAGTGTATCCCAGTGTCCTG	0.433													False	0	True	9:2641436	0	T	2641436	C	T	2641436	3	4	120	1	0	0	0	0	1	0	0	0	17258	623	22	2	399	2	VLDLR	9	2641436	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	2477398	2641436	138571995	57	31840											
PRKACG	5568	broad.mit.edu	37	chr9	71628843	71628843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccagcatcacccgccCgaaggagcccatgcccagcg	9	20	2	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:71628843C>T	ENST00000377276.2	-	1	196	c.166G>A	c.(166-168)Ggg>Agg	p.G56R		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	56	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATCACCCGCCCGAAGGAGCCC	0.592													False	0	True	9:71628843	0	T	71628843	C	T	71628843	3	4	120	1	0	0	0	0	1	0	0	0	12575	652	23	1	893	1	PRKACG	9	71628843	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	68987407	71628843	69584588	58	31841											
TRPM3	80036	broad.mit.edu	37	chr9	73461435	73461435	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagatgagaagcttgggaaGctccaactgccattccttgg	12	9	0	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:73461435G>T	ENST00000377110.2	-	4	778	c.535C>A	c.(535-537)Ctt>Att	p.L179I	TRPM3_ENST00000396285.1_Missense_Mutation_p.L26I|TRPM3_ENST00000357533.2_Missense_Mutation_p.L181I|TRPM3_ENST00000377106.1_Missense_Mutation_p.L26I|TRPM3_ENST00000423814.3_Missense_Mutation_p.L181I|TRPM3_ENST00000360823.2_Missense_Mutation_p.L26I|TRPM3_ENST00000361823.5_Missense_Mutation_p.L26I|TRPM3_ENST00000377097.3_Missense_Mutation_p.L26I|TRPM3_ENST00000396292.4_Missense_Mutation_p.L26I|TRPM3_ENST00000377105.1_Missense_Mutation_p.L26I|TRPM3_ENST00000408909.2_Missense_Mutation_p.L26I|TRPM3_ENST00000396283.1_Missense_Mutation_p.L26I|TRPM3_ENST00000358082.3_Missense_Mutation_p.L26I|TRPM3_ENST00000377111.2_Missense_Mutation_p.L179I|TRPM3_ENST00000377101.1_Missense_Mutation_p.L26I|TRPM3_ENST00000396280.5_Missense_Mutation_p.L26I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	179						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCTTGGGAAGCTCCAACTGC	0.463													False	0	False	9:73461435	0	T	73461435	G	T	73461435	3	4	120	1	0	0	0	0	1	0	0	0	16670	971	34	3	4799	3	TRPM3	9	73461435	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	1832592	73461435	67751996	59	31842											
MUSK	4593	broad.mit.edu	37	chr9	113547892	113547892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccatgtaccagaggatgCcgctccttctgaaccccaaa	7	16	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:113547892C>T	ENST00000416899.2	+	11	1774	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S|MUSK_ENST00000374448.4_Missense_Mutation_p.P558S			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	558					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAGAGGATGCCGCTCCTTCT	0.498													False	0	False	9:113547892	0	T	113547892	C	T	113547892	3	4	120	1	0	0	0	0	1	0	0	0	10056	739	26	2	1754	2	MUSK	9	113547892	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	40086457	113547892	27665539	60	31843											
ANAPC2	29882	broad.mit.edu	37	chr9	140082360	140082360	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagtagcaaaaggcactgggGctcatccgcagagttctcgc	13	11	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:140082360G>C	ENST00000323927.2	-	2	317	c.313C>G	c.(313-315)Ccc>Gcc	p.P105A		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	105					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		AGGCACTGGGGCTCATCCGCA	0.582													False	0	True	9:140082360	0	C	140082360	G	C	140082360	3	2	120	1	0	0	0	0	1	0	0	0	603	1203	42	5	2203	5	ANAPC2	9	140082360	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	26534468	140082360	1131071	61	31844											
LZTS2	84445	broad.mit.edu	37	chr10	102763860	102763860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaggaaagctccgagaCcgggaggcagagcttcagca	15	10	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:102763860C>T	ENST00000370220.1	+	2	4068	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	LZTS2_ENST00000370223.3_Silent_p.D335D			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	335					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGCTCCGAGACCGGGAGGCAG	0.632													False	0	False	10:102763860	0	T	102763860	C	T	102763860	2	4	120	1	0	0	0	0	0	0	0	1	9202	506	18	2		2	LZTS2	10	102763860	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		102763860	32770887	62	31845											
PRLHR	2834	broad.mit.edu	37	chr10	120354499	120354499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcagccggcgcacccgCgcgatcaccagcaccagcag	12	17	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:120354499C>T	ENST00000239032.2	-	2	396	c.258G>A	c.(256-258)gcG>gcA	p.A86A	PRLHR_ENST00000369169.1_Silent_p.A86A	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	86					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GGCGCACCCGCGCGATCACCA	0.657													False	0	True	10:120354499	0	T	120354499	C	T	120354499	2	4	120	1	0	0	0	0	0	0	0	1	12606	755	27	1		1	PRLHR	10	120354499	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	17590639	120354499	15180248	63	31846											
ATE1	11101	broad.mit.edu	37	chr10	123503198	123503198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagaggtgaacaggtcaGtttctgaacagcagcatccg	13	10	2	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:123503198G>A	ENST00000369043.3	-	12	1640	c.1554C>T	c.(1552-1554)aaC>aaT	p.N518N	ATE1_ENST00000535655.1_Silent_p.N219N|ATE1_ENST00000369040.3_Silent_p.N422N|ATE1_ENST00000224652.6_Silent_p.N518N|ATE1_ENST00000540606.1_Silent_p.N511N|ATE1_ENST00000543447.1_Silent_p.N403N	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	518					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GAACAGGTCAGTTTCTGAACA	0.522													False	0	True	10:123503198	0	A	123503198	G	A	123503198	2	1	120	1	0	0	0	0	0	0	0	1	1082	1020	36	2		2	ATE1	10	123503198	Silent	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	3148699	123503198	12031549	64	31847											
STIM1	6786	broad.mit.edu	37	chr11	4112950	4112951	+	Frame_Shift_Ins	INS	-	-	AG													ctgaggaggataatggctctINSattggcgaggaaacagactc							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:4112950_4112951insAG	ENST00000300737.4	+	12	2549_2550	c.1980_1981insAG	c.(1981-1983)attfs	p.I661fs	STIM1_ENST00000527651.1_3'UTR|STIM1_ENST00000533977.1_Frame_Shift_Ins_p.I488fs	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	661					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		ATAATGGCTCTATTGGCGAGGA	0.554													False	0	False	11:4112950	0	AG	4112951	-	AG	4112950	7	5	120	1	0	1	1	0	0	0	0	0	15365	1509	53	0	2026	0	STIM1	11	4112950	Frame_Shift_Ins	INS	-	TCGA-LB-A8F3-01A-11D-A36O-08		4112950	130893566	65	31848											
IPO7	10527	broad.mit.edu	37	chr11	9459724	9459724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtttctggacagattttgCcggcttttatccttttattt	8	7	1	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:9459724C>T	ENST00000379719.3	+	22	2729	c.2587C>T	c.(2587-2589)Ccg>Tcg	p.P863S		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	863					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	p.P863S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACAGATTTTGCCGGCTTTTAT	0.398													False	0	False	11:9459724	0	T	9459724	C	T	9459724	3	4	120	1	0	0	0	0	1	0	0	0	7847	739	26	2	2673	2	IPO7	11	9459724	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	5346774	9459724	125546792	66	31849											
CALCA	796	broad.mit.edu	37	chr11	14991575	14991575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcaggaggcgcgcttcgtCctcactgagcgtggccgggt	16	13	1	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:14991575C>T	ENST00000361010.3	-	3	207	c.133G>A	c.(133-135)Gac>Aac	p.D45N	CALCA_ENST00000396372.2_Missense_Mutation_p.D45N|CALCA_ENST00000331587.4_Missense_Mutation_p.D45N|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000486207.1_Missense_Mutation_p.D45N|CALCA_ENST00000359642.3_Missense_Mutation_p.D45N	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	45					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	CGCGCTTCGTCCTCACTGAGC	0.647											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:14991575	0	T	14991575	C	T	14991575	3	4	120	1	0	0	0	0	1	0	0	0	2595	855	30	2	464	2	CALCA	11	14991575	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	5531851	14991575	120014941	67	31850											
PRRG4	79056	broad.mit.edu	37	chr11	32852139	32852139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggggtttcctcattgcGcaagaggtccaaaggcttct	11	12	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:32852139G>A	ENST00000257836.3	+	2	317	c.64G>A	c.(64-66)Gca>Aca	p.A22T		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	22						extracellular region|Golgi apparatus|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					TCCTCATTGCGCAAGAGGTCC	0.478													False	0	False	11:32852139	0	A	32852139	G	A	32852139	3	1	120	1	0	0	0	0	1	0	0	0	12684	1087	38	1	66	1	PRRG4	11	32852139	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	17860564	32852139	102154377	68	31851											
ALX4	60529	broad.mit.edu	37	chr11	44286499	44286499	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtccggctcgccgttgagctCgtagccattgaggcctgggc	15	13	0	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:44286499C>G	ENST00000329255.3	-	4	1244	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	381					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCGTTGAGCTCGTAGCCATTG	0.652													False	0	False	11:44286499	0	G	44286499	C	G	44286499	3	3	120	1	0	0	0	0	1	0	0	0	558	893	31	5	98	5	ALX4	11	44286499	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	11434360	44286499	90720017	69	31852											
OR8K1	390157	broad.mit.edu	37	chr11	56113884	56113884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctctttattctatcagcaAtggcctatgatcgctacgta	7	10	3	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:56113884A>G	ENST00000279783.2	+	1	464	c.370A>G	c.(370-372)Atg>Gtg	p.M124V		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TCTATCAGCAATGGCCTATGA	0.403										HNSCC(65;0.19)			False	0	False	11:56113884	0	G	56113884	A	G	56113884	3	3	120	1	0	0	0	0	1	0	0	0	11311	101	4	4	372	4	OR8K1	11	56113884	Missense_Mutation	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	11827385	56113884	78892632	70	31853											
SIK3	23387	broad.mit.edu	37	chr11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-													ggtattcttgctgttgctgcTgttgctgctgctgctgccgt					rs539858	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596													False	1	True	11:116729011	0	-	116729013	TGT	-	116729011	7	5	120	1	0	1	0	1	0	0	0	0	14400	1580	55	0	955	0	SIK3	11	116729011	In_Frame_Del	DEL	TGT	TCGA-LB-A8F3-01A-11D-A36O-08	60615127	116729011	18277505	71	31854											
CACNA1C	775	broad.mit.edu	37	chr12	2566843	2566843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggccttccgcgtgctgcGccccctgcggctggtgtccg	16	16	0	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:2566843G>A	ENST00000399655.1	+	5	993	c.728G>A	c.(727-729)cGc>cAc	p.R243H	CACNA1C_ENST00000399641.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R243H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R243H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R243H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R243H	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	243					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCGTGCTGCGCCCCCTGCGG	0.562													False	0	True	12:2566843	0	A	2566843	G	A	2566843	3	1	120	1	0	0	0	0	1	0	0	0	2560	1087	38	1	746	1	CACNA1C	12	2566843	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08		2566843	131285052	72	31855											
KCNA6	3742	broad.mit.edu	37	chr12	4920759	4920759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctaccttcctacaccacatCgggcctatgcagagaaaaga	8	13	0	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:4920759C>T	ENST00000433855.1	+	1	2418	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	KCNA6_ENST00000280684.3_Missense_Mutation_p.R518W	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	518						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TACACCACATCGGGCCTATGC	0.597										HNSCC(72;0.22)			False	0	True	12:4920759	0	T	4920759	C	T	4920759	3	4	120	1	0	0	0	0	1	0	0	0	8057	875	31	1	1554	1	KCNA6	12	4920759	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	2353916	4920759	128931136	73	31856											
A2ML1	144568	broad.mit.edu	37	chr12	8982332	8982332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctttccagtgtatttccGcattgtcaccatggatagca	7	11	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:8982332G>A	ENST00000299698.7	+	4	599	c.419G>A	c.(418-420)cGc>cAc	p.R140H	A2ML1-AS1_ENST00000537288.1_RNA	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTGTATTTCCGCATTGTCACC	0.443													False	0	False	12:8982332	0	A	8982332	G	A	8982332	3	1	120	1	0	0	0	0	1	0	0	0	5	1087	38	1	433	1	A2ML1	12	8982332	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	4061573	8982332	124869563	74	31857											
TSPAN11	441631	broad.mit.edu	37	chr12	31116773	31116773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcaggtcgggggagcaGccgtcctggctgtgggcatc	17	12	0	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:31116773G>T	ENST00000261177.9	+	3	156	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	TSPAN11_ENST00000546076.1_Missense_Mutation_p.A33S|TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000544427.1_Missense_Mutation_p.A23S	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	33						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGGGGGAGCAGCCGTCCTGGC	0.662													False	0	False	12:31116773	0	T	31116773	G	T	31116773	3	4	120	1	0	0	0	0	1	0	0	0	16718	971	34	3	103	3	TSPAN11	12	31116773	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	22134441	31116773	102735122	75	31858											
KRT74	121391	broad.mit.edu	37	chr12	52964517	52964517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatctcctcataatgcatgCggacctcagcgatgatgctg	10	12	3	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:52964517C>T	ENST00000549343.1	-	5	982	c.944G>A	c.(943-945)cGc>cAc	p.R315H	KRT74_ENST00000305620.2_Missense_Mutation_p.R315H			Q7RTS7	K2C74_HUMAN	keratin 74	315	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ATAATGCATGCGGACCTCAGC	0.592													False	0	True	12:52964517	0	T	52964517	C	T	52964517	3	4	120	1	0	0	0	0	1	0	0	0	8537	768	27	1	665	1	KRT74	12	52964517	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	21847744	52964517	80887378	76	31859											
HELB	92797	broad.mit.edu	37	chr12	66709127	66709128	+	Frame_Shift_Ins	INS	-	-	A													gagctaaagacaaaccatagINSagcagaatctcagctcattg							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:66709127_66709128insA	ENST00000247815.4	+	6	2023_2024	c.1964_1965insA	c.(1963-1968)agagcafs	p.A656fs		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	656					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ACAAACCATAGAGCAGAATCTC	0.342													False	1	False	12:66709127	0	A	66709128	-	A	66709127	7	5	120	1	0	1	1	0	0	0	0	0	7092	942	33	0	1986	0	HELB	12	66709127	Frame_Shift_Ins	INS	-	TCGA-LB-A8F3-01A-11D-A36O-08	13744610	66709127	67142768	77	31860											
HIP1R	9026	broad.mit.edu	37	chr12	123333155	123333170	+	Splice_Site	DEL	TGTGAGTAGCAGCTGC	TGTGAGTAGCAGCTGC	-													cttcgagacgggcaccccaaTgtgagtagcagctgctgcct							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	TGTGAGTAGCAGCTGC	TGTGAGTAGCAGCTGC	-	-	TGTGAGTAGCAGCTGC	TGTGAGTAGCAGCTGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:123333155_123333170delTGTGAGTAGCAGCTGC	ENST00000253083.4	+	3	425	c.300delTGTGAGTAGCAGCTGC	c.(298-300)aat>aa	p.N100fs		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	100	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGCACCCCAATGTGAGTAGCAGCTGCTGCCTCTGCT	0.662													False	1	False	12:123333155	0	-	123333170	TGTGAGTAGCAGCTGC	-	123333155	8	5	120	1	0	1	0	1	0	0	1	0	7162	1478	51	0	310	0	HIP1R	12	123333155	Splice_Site	DEL	TGTGAGTAGCAGCTGC	TCGA-LB-A8F3-01A-11D-A36O-08	56624028	123333155	10518740	78	31861											
MTMR6	9107	broad.mit.edu	37	chr13	25826043	25826043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactgtaaatctgtgagattCggaactgtagagaggattta	11	4	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:25826043C>T	ENST00000381801.5	-	12	2187	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	MTMR6_ENST00000540661.1_Missense_Mutation_p.E476K	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	476	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CTGTGAGATTCGGAACTGTAG	0.328													False	0	False	13:25826043	0	T	25826043	C	T	25826043	3	4	120	1	0	0	0	0	1	0	0	0	10014	893	31	1	451	1	MTMR6	13	25826043	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		25826043	89343835	79	31862											
KBTBD6	89890	broad.mit.edu	37	chr13	41705888	41705888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcagcactgggaccccGctctttgggagcagcctcca	11	15	2	0	rs61999308		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:41705888G>A	ENST00000379485.1	-	1	994	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R188W	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	254							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTGGGACCCCGCTCTTTGGGA	0.582													False	0	True	13:41705888	0	A	41705888	G	A	41705888	3	1	120	1	0	0	0	0	1	0	0	0	8047	1086	38	1	1268	1	KBTBD6	13	41705888	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	15879845	41705888	73463990	80	31863											
DOCK9	23348	broad.mit.edu	37	chr13	99566593	99566593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgatgttaccttggcaagttCcggcaggtagctatctaaac	10	10	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:99566593C>T	ENST00000376460.1	-	9	1029	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	DOCK9_ENST00000448493.2_Missense_Mutation_p.E329K|DOCK9_ENST00000339416.2_Missense_Mutation_p.E318K|DOCK9_ENST00000442173.1_Missense_Mutation_p.E317K	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	318					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGGCAAGTTCCGGCAGGTAG	0.393													False	0	False	13:99566593	0	T	99566593	C	T	99566593	3	4	120	1	0	0	0	0	1	0	0	0	4724	864	30	2	5510	2	DOCK9	13	99566593	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	57860705	99566593	15603285	81	31864											
EFNB2	1948	broad.mit.edu	37	chr13	107148161	107148161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctccctcctggttatccAggccctccaaagacccattt	5	19	0	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:107148161A>G	ENST00000245323.4	-	3	583	c.434T>C	c.(433-435)cTg>cCg	p.L145P		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	145					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTGGTTATCCAGGCCCTCCAA	0.413													False	0	False	13:107148161	0	G	107148161	A	G	107148161	3	3	120	1	0	0	0	0	1	0	0	0	4986	188	7	4	579	4	EFNB2	13	107148161	Missense_Mutation	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	7581568	107148161	8021717	82	31865											
ACIN1	22985	broad.mit.edu	37	chr14	23528647	23528647	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgccgcttctcccgctcctTggcccgttcggcccgctctg	10	20	2	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr14:23528647T>G	ENST00000262710.1	-	19	4063	c.3736A>C	c.(3736-3738)Aag>Cag	p.K1246Q	ACIN1_ENST00000555053.1_Missense_Mutation_p.K1233Q|ACIN1_ENST00000557515.1_Missense_Mutation_p.K487Q|ACIN1_ENST00000457657.1_Missense_Mutation_p.K1206Q|ACIN1_ENST00000397341.3_Missense_Mutation_p.K488Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.K1188Q|ACIN1_ENST00000357481.2_Missense_Mutation_p.K488Q|ACIN1_ENST00000338631.6_Missense_Mutation_p.K519Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1246	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		tcccgctccttGGCCCGTTCG	0.582													False	0	False	14:23528647	0	G	23528647	T	G	23528647	3	3	120	1	0	0	0	0	1	0	0	0	142	1821	63	4	293	4	ACIN1	14	23528647	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08		23528647	83820893	83	31866											
ZFYVE26	23503	broad.mit.edu	37	chr14	68249561	68249561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcgtccacatctcgcccGtacacttcagtgagctgaag	8	13	2	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr14:68249561G>A	ENST00000347230.4	-	21	4446	c.4308C>T	c.(4306-4308)taC>taT	p.Y1436Y	ZFYVE26_ENST00000555452.1_Silent_p.Y1436Y	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1436					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CATCTCGCCCGTACACTTCAG	0.527													False	0	True	14:68249561	0	A	68249561	G	A	68249561	2	1	120	1	0	0	0	0	0	0	0	1	17751	1140	40	1		1	ZFYVE26	14	68249561	Silent	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	44720914	68249561	39099979	84	31867											
AMFR	267	broad.mit.edu	37	chr16	56401435	56401435	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgcaggtctgatgctatctGaccgctggaagagaaacagt	12	8	2	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:56401435G>A	ENST00000290649.5	-	12	1730	c.1520C>T	c.(1519-1521)tCa>tTa	p.S507L		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	507					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GATGCTATCTGACCGCTGGAA	0.498													False	0	False	16:56401435	0	A	56401435	G	A	56401435	3	1	120	1	0	0	0	0	1	0	0	0	571	1294	45	2	423	2	AMFR	16	56401435	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08		56401435	33953318	85	31868											
NLRC5	84166	broad.mit.edu	37	chr16	57075463	57075463	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaggctctgggaggaagctgCcacctcggtcacctccacct	11	15	2	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:57075463C>G	ENST00000436936.1	+	18	3231	c.3006C>G	c.(3004-3006)tgC>tgG	p.C1002W	NLRC5_ENST00000539144.1_Missense_Mutation_p.C1002W|NLRC5_ENST00000308149.7_Missense_Mutation_p.C1002W|NLRC5_ENST00000262510.6_Missense_Mutation_p.C1002W			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1002					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAGGAAGCTGCCACCTCGGTC	0.552													False	0	False	16:57075463	0	G	57075463	C	G	57075463	3	3	120	1	0	0	0	0	1	0	0	0	10538	747	26	5	3068	5	NLRC5	16	57075463	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	674028	57075463	33279290	86	31869											
PMFBP1	83449	broad.mit.edu	37	chr16	72162994	72162994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctttttaaattcctgccGcaaagcttcaagttctccct	4	12	3	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:72162994G>A	ENST00000537465.1	-	13	2094	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	PMFBP1_ENST00000355636.6_Missense_Mutation_p.R496W|PMFBP1_ENST00000237353.10_Missense_Mutation_p.R641W			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	646										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AATTCCTGCCGCAAAGCTTCA	0.527													False	0	False	16:72162994	0	A	72162994	G	A	72162994	3	1	120	1	0	0	0	0	1	0	0	0	12203	1086	38	1	1198	1	PMFBP1	16	72162994	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	15087531	72162994	18191759	87	31870											
CDC27	996	broad.mit.edu	37	chr17	45234708	45234708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagttgctaaagttctgtAaagatgtgaatttaaatgtt	9	3	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:45234708A>G	ENST00000066544.3	-	6	611	c.518T>C	c.(517-519)tTa>tCa	p.L173S	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.L173S|CDC27_ENST00000527547.1_Missense_Mutation_p.L173S|CDC27_ENST00000446365.2_Missense_Mutation_p.L112S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	173					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.L173S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AAAGTTCTGTAAAGATGTGAA	0.383													False	0	True	17:45234708	0	G	45234708	A	G	45234708	3	3	120	1	0	0	0	0	1	0	0	0	3089	372	13	4	2030	4	CDC27	17	45234708	Missense_Mutation	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08		45234708	35960502	88	31871											
TMEM104	54868	broad.mit.edu	37	chr17	72832228	72832228	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atccctcattacccccgtctCctccaagcgccacctcacaa	3	21	3	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:72832228C>G	ENST00000335464.5	+	10	1055	c.893C>G	c.(892-894)tCc>tGc	p.S298C	TMEM104_ENST00000582330.1_Missense_Mutation_p.S298C|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	298						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACCCCCGTCTCCTCCAAGCGC	0.622													False	0	False	17:72832228	0	G	72832228	C	G	72832228	3	3	120	1	0	0	0	0	1	0	0	0	16100	855	30	5	927	5	TMEM104	17	72832228	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	27597520	72832228	8362982	89	31872											
TLE2	7089	broad.mit.edu	37	chr19	3002419	3002419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtatttctccggcttgCggacgtgcaggatctccacg	13	12	2	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:3002419C>T	ENST00000262953.6	-	18	2241	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	TLE2_ENST00000426948.2_Missense_Mutation_p.R674H|TLE2_ENST00000447365.2_Missense_Mutation_p.R327H|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Missense_Mutation_p.R538H|TLE2_ENST00000443826.3_Missense_Mutation_p.R538H|TLE2_ENST00000590536.1_Missense_Mutation_p.R661H|TLE2_ENST00000591529.1_Missense_Mutation_p.R674H	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	660				R -> G (in Ref. 1; AAA61193).	negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGGCTTGCGGACGTGCAG	0.617													False	0	False	19:3002419	0	T	3002419	C	T	3002419	3	4	120	1	0	0	0	0	1	0	0	0	16021	768	27	1	264	1	TLE2	19	3002419	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		3002419	56126564	90	31873											
ANKRD24	170961	broad.mit.edu	37	chr19	4216640	4216640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctatgactctctccgggccGagtttgaccagctacgcagg	11	13	2	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:4216640G>A	ENST00000600132.1	+	18	1759	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	ANKRD24_ENST00000318934.4_Missense_Mutation_p.E495K|ANKRD24_ENST00000262970.5_Missense_Mutation_p.E585K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	495										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TCTCCGGGCCGAGTTTGACCA	0.607													False	0	False	19:4216640	0	A	4216640	G	A	4216640	3	1	120	1	0	0	0	0	1	0	0	0	653	1059	37	1	1549	1	ANKRD24	19	4216640	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	1214221	4216640	54912343	91	31874											
ACTL9	284382	broad.mit.edu	37	chr19	8807880	8807880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcaggactggaaggcgCgcagggaggccaggatggag	19	10	0	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:8807880C>T	ENST00000324436.3	-	1	1292	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	391						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CTGGAAGGCGCGCAGGGAGGC	0.652													False	0	True	19:8807880	0	T	8807880	C	T	8807880	3	4	120	1	0	0	0	0	1	0	0	0	203	768	27	1	82	1	ACTL9	19	8807880	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	4591240	8807880	50321103	92	31875											
ANKRD27	84079	broad.mit.edu	37	chr19	33134064	33134064	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaccaatatctttctgctgAagatcttgaaggcttcttgt	7	9	4	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:33134064A>T	ENST00000306065.4	-	9	905	c.747T>A	c.(745-747)ctT>ctA	p.L249L	ANKRD27_ENST00000587352.1_Silent_p.L249L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	249	VPS9.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTTTCTGCTGAAGATCTTGAA	0.473													False	0	False	19:33134064	0	T	33134064	A	T	33134064	2	4	120	1	0	0	0	0	0	0	0	1	655	233	9	5		5	ANKRD27	19	33134064	Silent	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	24326184	33134064	25994919	93	31876											
TEAD2	8463	broad.mit.edu	37	chr19	49845730	49845730	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttttccaggacgctgttcaTcatgtatcgctcaggcagct	10	11	3	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:49845730T>A	ENST00000377214.4	-	10	1566	c.1204A>T	c.(1204-1206)Atg>Ttg	p.M402L	TEAD2_ENST00000598810.1_Missense_Mutation_p.M403L|TEAD2_ENST00000539846.1_Missense_Mutation_p.M271L|TEAD2_ENST00000311227.2_Missense_Mutation_p.M399L|TEAD2_ENST00000601519.1_Missense_Mutation_p.M402L|TEAD2_ENST00000593945.1_Missense_Mutation_p.M403L			Q15562	TEAD2_HUMAN	TEA domain family member 2	399	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ACGCTGTTCATCATGTATCGC	0.587													False	0	False	19:49845730	0	A	49845730	T	A	49845730	3	1	120	1	0	0	0	0	1	0	0	0	15821	1435	50	5	156	5	TEAD2	19	49845730	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08	16711666	49845730	9283253	94	31877											
ZNF304	57343	broad.mit.edu	37	chr19	57868610	57868610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgggaaggcctttggctGcaaagacacacttgttcagc	12	9	1	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:57868610G>A	ENST00000391705.3	+	4	1657	c.1373G>A	c.(1372-1374)tGc>tAc	p.C458Y	ZNF304_ENST00000443917.2_Missense_Mutation_p.C505Y|ZNF304_ENST00000598744.1_Missense_Mutation_p.C416Y|ZNF304_ENST00000282286.5_Missense_Mutation_p.C458Y	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCCTTTGGCTGCAAAGACACA	0.478													False	0	False	19:57868610	0	A	57868610	G	A	57868610	3	1	120	1	0	0	0	0	1	0	0	0	17916	1319	46	2	1383	2	ZNF304	19	57868610	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	8022880	57868610	1260373	95	31878											
RBPJL	11317	broad.mit.edu	37	chr20	43943060	43943060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccattgcagatcatccGtaaagtagcaaaacagtgtg	8	10	1	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:43943060G>A	ENST00000343694.3	+	9	947	c.875G>A	c.(874-876)cGt>cAt	p.R292H	RBPJL_ENST00000372743.1_Missense_Mutation_p.R292H|RBPJL_ENST00000372741.3_Missense_Mutation_p.R292H|RBPJL_ENST00000464504.1_3'UTR	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	292					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CAGATCATCCGTAAAGTAGCA	0.572													False	0	False	20:43943060	0	A	43943060	G	A	43943060	3	1	120	1	0	0	0	0	1	0	0	0	13241	1145	40	1	909	1	RBPJL	20	43943060	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08		43943060	19082460	96	31879											
SLC12A5	57468	broad.mit.edu	37	chr20	44675062	44675062	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaactggaggccacgctttCgatattaccactggtgggtg	12	11	0	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:44675062C>T	ENST00000454036.1	+	14	1919	c.1843C>T	c.(1843-1845)Cga>Tga	p.R615*	SLC12A5_ENST00000243964.3_Nonsense_Mutation_p.R592*|SLC12A5_ENST00000539566.1_3'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	615					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCACGCTTTCGATATTACCA	0.552													False	0	True	20:44675062	0	T	44675062	C	T	44675062	4	4	120	1	0	0	0	0	0	1	0	0	14467	876	31	1	1953	1	SLC12A5	20	44675062	Nonsense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	732002	44675062	18350458	97	31880											
ZMYND8	23613	broad.mit.edu	37	chr20	45853160	45853160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcacctcggcgatgagCcggtcccgctcctgctccag	10	17	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:45853160C>T	ENST00000311275.7	-	19	3259	c.3006G>A	c.(3004-3006)cgG>cgA	p.R1002R	ZMYND8_ENST00000352431.2_Silent_p.R976R|ZMYND8_ENST00000471951.2_Silent_p.R1022R|ZMYND8_ENST00000540497.1_Silent_p.R950R|ZMYND8_ENST00000536340.1_Silent_p.R1029R|ZMYND8_ENST00000262975.4_Silent_p.R956R|ZMYND8_ENST00000360911.3_Silent_p.R951R|ZMYND8_ENST00000372023.3_Silent_p.R924R|ZMYND8_ENST00000355972.4_Silent_p.R1002R|ZMYND8_ENST00000446994.2_Silent_p.R893R|ZMYND8_ENST00000461685.1_Silent_p.R976R|ZMYND8_ENST00000396281.4_Silent_p.R1002R|ZMYND8_ENST00000458360.2_Silent_p.R870R			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1002							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CGGCGATGAGCCGGTCCCGCT	0.627													False	0	False	20:45853160	0	T	45853160	C	T	45853160	2	4	120	1	0	0	0	0	0	0	0	1	17794	726	26	2		2	ZMYND8	20	45853160	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	1178098	45853160	17172360	98	31881											
NCOA3	8202	broad.mit.edu	37	chr20	46279865	46279866	+	Frame_Shift_Ins	INS	-	-	GC													cagcagcagcagcagcagcaINSacagcaacagcaacagcaac					rs112129664	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:46279865_46279866insGC	ENST00000372004.3	+	20	3995_3996	c.3779_3780insGC	c.(3778-3783)caacagfs	p.Q1261fs	NCOA3_ENST00000371997.3_Frame_Shift_Ins_p.Q1256fs|NCOA3_ENST00000371998.3_Frame_Shift_Ins_p.Q1265fs|NCOA3_ENST00000341724.6_Frame_Shift_Ins_p.Q1191fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1265	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						cagcagcagcaacagcaacagc	0.564													False	0	True	20:46279865	0	GC	46279866	-	GC	46279865	7	5	120	1	0	1	1	0	0	0	0	0	10298	130	5	0	3891	0	NCOA3	20	46279865	Frame_Shift_Ins	INS	-	TCGA-LB-A8F3-01A-11D-A36O-08	426705	46279865	16745655	99	31882											
OGFR	11054	broad.mit.edu	37	chr20	61444217	61444217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctgaatttggaggggtGtgccctcagccagggcagcc	15	12	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:61444217G>A	ENST00000370461.1	+	5	3371	c.1094G>A	c.(1093-1095)tGt>tAt	p.C365Y	OGFR_ENST00000370468.3_Missense_Mutation_p.C417Y|OGFR_ENST00000290291.6_Missense_Mutation_p.C417Y			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	417					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					TTGGAGGGGTGTGCCCTCAGC	0.682													False	0	False	20:61444217	0	A	61444217	G	A	61444217	3	1	120	1	0	0	0	0	1	0	0	0	10911	1377	48	2	1276	2	OGFR	20	61444217	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	15164352	61444217	1581303	100	31883											
C21orf2	755	broad.mit.edu	37	chr21	45753071	45753071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagccaggctggggatgCggttcctccgcaggtacagc	15	13	1	0	rs140451304		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr21:45753071C>T	ENST00000339818.4	-	4	425	c.218G>A	c.(217-219)cGc>cAc	p.R73H	C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000325223.7_Missense_Mutation_p.R73H|C21orf2_ENST00000397956.3_Missense_Mutation_p.R73H|AP001062.7_ENST00000448927.1_RNA	NM_004928.2	NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	73										endometrium(2)	2				Colorectal(79;0.0806)		GCTGGGGATGCGGTTCCTCCG	0.677													False	0	False	21:45753071	0	T	45753071	C	T	45753071	3	4	120	1	0	0	0	0	1	0	0	0	2139	768	27	1	568	1	C21orf2	21	45753071	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		45753071	2376824	101	31884											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971146	45971146	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagcctgattggcaggCgctgggctcacaggccgcct	16	13	1	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr21:45971146C>G	ENST00000391621.1	-	1	242	c.196G>C	c.(196-198)Gcc>Ccc	p.A66P	TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	66	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GATTGGCAGGCGCTGGGCTCA	0.706													False	0	False	21:45971146	0	G	45971146	C	G	45971146	3	3	120	1	0	0	0	0	1	0	0	0	8559	768	27	5	575	5	KRTAP10-2	21	45971146	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	218075	45971146	2158749	102	31885											
CECR1	51816	broad.mit.edu	37	chr22	17669277	17669277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttaacgccatccttggCggggatcatcagagcttcct	10	13	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr22:17669277C>T	ENST00000399839.1	-	7	1303	c.1033G>A	c.(1033-1035)Gcc>Acc	p.A345T	CECR1_ENST00000399837.2_Missense_Mutation_p.A345T|CECR1_ENST00000449907.2_Missense_Mutation_p.A303T|CECR1_ENST00000330232.4_Missense_Mutation_p.A104T|CECR1_ENST00000262607.3_Missense_Mutation_p.A345T			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	345					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCATCCTTGGCGGGGATCATC	0.607													False	0	True	22:17669277	0	T	17669277	C	T	17669277	3	4	120	1	0	0	0	0	1	0	0	0	3228	768	27	1	518	1	CECR1	22	17669277	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		17669277	33635289	103	31886											
ACE2	59272	broad.mit.edu	37	chrX	15609901	15609901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatggcctcagctgcttgCcgacctcagatctccagctt	8	14	3	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:15609901C>T	ENST00000427411.1	-	5	734	c.518G>A	c.(517-519)gGc>gAc	p.G173D	ACE2_ENST00000252519.3_Missense_Mutation_p.G173D	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	173					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAGCTGCTTGCCGACCTCAGA	0.438													False	0	False	X:15609901	0	T	15609901	C	T	15609901	3	4	120	1	0	0	0	0	1	0	0	0	137	739	26	2	1959	2	ACE2	23	15609901	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		15609901	139660659	104	31887											
CXorf23	256643	broad.mit.edu	37	chrX	19955570	19955570	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caatacattttctaaaatttGattttataaaatgtgtgggt	6	3	1	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:19955570G>T	ENST00000379682.4	-	8	1859	c.1826C>A	c.(1825-1827)tCa>tAa	p.S609*	CXorf23_ENST00000356980.3_Intron|CXorf23_ENST00000379687.3_Intron			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	609						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTAAAATTTGATTTTATAAA	0.289													False	0	True	X:19955570	0	T	19955570	G	T	19955570	4	4	120	1	0	0	0	0	0	1	0	0	4128	1305	45	3		3	CXorf23	23	19955570	Nonsense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	4345669	19955570	135314990	105	31888											
ZNF645	158506	broad.mit.edu	37	chrX	22292216	22292216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acattttacctcagttcaccGaaaatcaagaaaccttgagc	5	11	3	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:22292216G>A	ENST00000323684.1	+	1	1152	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	370						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TCAGTTCACCGAAAATCAAGA	0.448													False	0	True	X:22292216	0	A	22292216	G	A	22292216	3	1	120	1	0	0	0	0	1	0	0	0	18144	1059	37	1	1110	1	ZNF645	23	22292216	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	2336646	22292216	132978344	106	31889											
GPR34	2857	broad.mit.edu	37	chrX	41555137	41555137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatttctgggtattcaccGtaaaagaaattccattcaaa	6	7	3	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:41555137G>A	ENST00000378142.4	+	3	535	c.251G>A	c.(250-252)cGt>cAt	p.R84H	CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000442742.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R84H|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	84						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R84H(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GGTATTCACCGTAAAAGAAAT	0.383													False	0	False	X:41555137	0	A	41555137	G	A	41555137	3	1	120	1	0	0	0	0	1	0	0	0	6735	1145	40	1	253	1	GPR34	23	41555137	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	19262921	41555137	113715423	107	31890											
AWAT2	158835	broad.mit.edu	37	chrX	69261709	69261709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccaaacttggtcttatgCtggtcaaacagtttacgtag	8	8	2	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:69261709C>T	ENST00000276101.3	-	7	956	c.951G>A	c.(949-951)caG>caA	p.Q317Q		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	317						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						TGGTCTTATGCTGGTCAAACA	0.488													False	0	False	X:69261709	0	T	69261709	C	T	69261709	2	4	120	1	0	0	0	0	0	0	0	1	1239	796	28	2		2	AWAT2	23	69261709	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	27706572	69261709	86008851	108	31891											
KIF4A	24137	broad.mit.edu	37	chrX	69607059	69607059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgccaacaagcgtctcaAggatgctctccagaaacaac	8	13	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:69607059A>G	ENST00000374403.3	+	20	2226	c.2144A>G	c.(2143-2145)aAg>aGg	p.K715R	KIF4A_ENST00000374388.3_Missense_Mutation_p.K715R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	715	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AAGCGTCTCAAGGATGCTCTC	0.423													False	0	False	X:69607059	0	G	69607059	A	G	69607059	3	3	120	1	0	0	0	0	1	0	0	0	8353	72	3	4	2218	4	KIF4A	23	69607059	Missense_Mutation	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	345350	69607059	85663501	109	31892											
PGK1	5230	broad.mit.edu	37	chrX	77380480	77380480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgaatgggaagcttttgCccggggaaccaaagctctca	11	9	1	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:77380480C>T	ENST00000373316.4	+	9	1213	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	PGK1_ENST00000537456.1_Missense_Mutation_p.A321V|PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000442431.1_Missense_Mutation_p.A213V	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	349					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GAAGCTTTTGCCCGGGGAACC	0.502													False	0	True	X:77380480	0	T	77380480	C	T	77380480	3	4	120	1	0	0	0	0	1	0	0	0	11859	739	26	2	1080	2	PGK1	23	77380480	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	7773421	77380480	77890080	110	31893											
PCDH19	57526	broad.mit.edu	37	chrX	99662436	99662436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcacattgcccagcaaaCggcactgcacacgtccattg	10	14	0	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:99662436C>T	ENST00000373034.4	-	1	2835	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	PCDH19_ENST00000255531.7_Missense_Mutation_p.R387H|PCDH19_ENST00000420881.2_Missense_Mutation_p.R387H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	387	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCCCAGCAAACGGCACTGCAC	0.607													False	0	True	X:99662436	0	T	99662436	C	T	99662436	3	4	120	1	0	0	0	0	1	0	0	0	11582	536	19	1	2310	1	PCDH19	23	99662436	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	22281956	99662436	55608124	111	31894											
AMOT	154796	broad.mit.edu	37	chrX	112024240	112024240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagagacttcgctggccGcatgcacgacagctgctctg	11	14	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:112024240G>A	ENST00000371959.3	-	9	2346	c.2347C>T	c.(2347-2349)Cgg>Tgg	p.R783W	AMOT_ENST00000304758.1_Missense_Mutation_p.R374W|AMOT_ENST00000371962.1_Missense_Mutation_p.R551W|AMOT_ENST00000371958.1_Missense_Mutation_p.R551W|AMOT_ENST00000524145.1_Missense_Mutation_p.R783W	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	783					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TTCGCTGGCCGCATGCACGAC	0.552													False	0	False	X:112024240	0	A	112024240	G	A	112024240	3	1	120	1	0	0	0	0	1	0	0	0	582	1086	38	1	919	1	AMOT	23	112024240	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	12361804	112024240	43246320	112	31895											
HTR2C	3358	broad.mit.edu	37	chrX	114141325	114141325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaccatctacgttctgCgccgacaagctttgatgtta	9	12	2	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:114141325C>T	ENST00000276198.1	+	6	1452	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	HTR2C_ENST00000371950.3_Missense_Mutation_p.A210V|HTR2C_ENST00000371951.1_Missense_Mutation_p.R242C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	242					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CTACGTTCTGCGCCGACAAGC	0.502													False	0	False	X:114141325	0	T	114141325	C	T	114141325	3	4	120	1	0	0	0	0	1	0	0	0	7493	768	27	1	738	1	HTR2C	23	114141325	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	2117085	114141325	41129235	113	31896											
STAG2	10735	broad.mit.edu	37	chrX	123176477	123176477	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgagataattcgaaaaatGactgaagaattcgatgaggt	10	4	1	5			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:123176477G>A	ENST00000371160.1	+	7	734	c.444G>A	c.(442-444)atG>atA	p.M148I	STAG2_ENST00000371144.3_Missense_Mutation_p.M148I|STAG2_ENST00000371145.3_Missense_Mutation_p.M148I|STAG2_ENST00000371157.3_Missense_Mutation_p.M148I|STAG2_ENST00000218089.9_Missense_Mutation_p.M148I|STAG2_ENST00000354548.5_Missense_Mutation_p.M79I|STAG2_ENST00000469481.1_Intron			Q8N3U4	STAG2_HUMAN	stromal antigen 2	148					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCGAAAAATGACTGAAGAAT	0.299													False	0	False	X:123176477	0	A	123176477	G	A	123176477	3	1	120	1	0	0	0	0	1	0	0	0	15325	1290	45	2	462	2	STAG2	23	123176477	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	9035152	123176477	32094083	114	31897											
ATP13A2	23400	broad.mit.edu	37	chr1	17313653	17313653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcgcccccggtggccGcacccgtcccaggaccagcg	14	19	0	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:17313653G>A	ENST00000452699.1	-	26	3145	c.2956C>T	c.(2956-2958)Cgg>Tgg	p.R986W	ATP13A2_ENST00000341676.5_Missense_Mutation_p.R947W|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R991W	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	991					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCCGGTGGCCGCACCCGTCCC	0.687													False	0	False	1:17313653	0	A	17313653	G	A	17313653	3	1	121	1	0	0	0	0	1	0	0	0	1128	1086	38	1	823	1	ATP13A2	1	17313653	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		17313653	231936968	1	31898											
CELSR2	1952	broad.mit.edu	37	chr1	109808777	109808777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgggatctggtggcccCgtacccgcttcgggctgcct	15	14	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:109808777C>T	ENST00000271332.3	+	15	6023	c.5962C>T	c.(5962-5964)Cgt>Tgt	p.R1988C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1988					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTGGTGGCCCCGTACCCGCTT	0.617													False	0	True	1:109808777	0	T	109808777	C	T	109808777	3	4	121	1	0	0	0	0	1	0	0	0	3245	652	23	1	6020	1	CELSR2	1	109808777	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	92495124	109808777	139441844	2	31899											
RHOC	389	broad.mit.edu	37	chr1	113244218	113244218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggacctggaggccagcccGagtggccatctcaaacacct	12	15	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:113244218G>A	ENST00000285735.2	-	6	1735	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	RHOC_ENST00000339083.7_Missense_Mutation_p.R176W|RHOC_ENST00000369632.2_Missense_Mutation_p.R176W|RHOC_ENST00000369642.3_Missense_Mutation_p.R176W|RHOC_ENST00000369638.2_Missense_Mutation_p.R176W|RHOC_ENST00000369637.1_Missense_Mutation_p.R176W|RHOC_ENST00000369636.2_Silent_p.L155L|RHOC_ENST00000369633.2_Missense_Mutation_p.R176W			P08134	RHOC_HUMAN	ras homolog family member C	176					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCCAGCCCGAGTGGCCATC	0.617													False	0	True	1:113244218	0	A	113244218	G	A	113244218	3	1	121	1	0	0	0	0	1	0	0	0	13415	1057	37	1	59	1	RHOC	1	113244218	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	3435441	113244218	136006403	3	31900											
POLR3C	10623	broad.mit.edu	37	chr1	145608249	145608249	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgtgtgtctgccagtcGcacaaatgtgtttgatactt	10	7	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:145608249G>A	ENST00000334163.3	-	4	608	c.448C>T	c.(448-450)Cga>Tga	p.R150*	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Nonsense_Mutation_p.R150*	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	150					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCTGCCAGTCGCACAAATGTG	0.498													False	0	False	1:145608249	0	A	145608249	G	A	145608249	4	1	121	1	0	0	0	0	0	1	0	0	12299	1095	38	1	1204	1	POLR3C	1	145608249	Nonsense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	32364031	145608249	103642372	4	31901											
FLG	2312	broad.mit.edu	37	chr1	152282617	152282617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcttgtcttggaccccGctgattctccctggcccacc	9	18	2	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:152282617G>A	ENST00000368799.1	-	3	4780	c.4745C>T	c.(4744-4746)gCg>gTg	p.A1582V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1582	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGGACCCCGCTGATTCTCC	0.607									Ichthyosis				False	0	True	1:152282617	0	A	152282617	G	A	152282617	3	1	121	1	0	0	0	0	1	0	0	0	5962	1087	38	1	7444	1	FLG	1	152282617	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	6674368	152282617	96968004	5	31902											
OR10K1	391109	broad.mit.edu	37	chr1	158435396	158435396	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgagagagttcgtcgtcctCggcttctcatccctggccag	12	13	1	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:158435396C>T	ENST00000289451.2	+	1	125	c.45C>T	c.(43-45)ctC>ctT	p.L15L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCGTCGTCCTCGGCTTCTCAT	0.507													False	0	False	1:158435396	0	T	158435396	C	T	158435396	2	4	121	1	0	0	0	0	0	0	0	1	10981	871	31	1		1	OR10K1	1	158435396	Silent	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	6152779	158435396	90815225	6	31903											
PKP1	5317	broad.mit.edu	37	chr1	201252975	201252975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcaggtgatgatgaccGtcaagcggcagaagtccaag	15	8	1	4			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:201252975G>A	ENST00000263946.3	+	1	396	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	PKP1_ENST00000352845.3_Missense_Mutation_p.V49I|PKP1_ENST00000367324.3_Missense_Mutation_p.V49I	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	49					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GATGATGACCGTCAAGCGGCA	0.612													False	0	False	1:201252975	0	A	201252975	G	A	201252975	3	1	121	1	0	0	0	0	1	0	0	0	12053	1145	40	1	147	1	PKP1	1	201252975	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	42817579	201252975	47997646	7	31904											
OR2M5	127059	broad.mit.edu	37	chr1	248309257	248309257	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgatcgctcccctatgCaggacaagctggtgtctgta	10	12	2	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:248309257C>T	ENST00000366476.1	+	1	808	c.808C>T	c.(808-810)Cag>Tag	p.Q270*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	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)			CTCCCCTATGCAGGACAAGCT	0.512													False	0	False	1:248309257	0	T	248309257	C	T	248309257	4	4	121	1	0	0	0	0	0	1	0	0	11081	711	25	2	810	2	OR2M5	1	248309257	Nonsense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	47056282	248309257	941364	8	31905											
GDF7	151449	broad.mit.edu	37	chr2	20870689	20870689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttattccgggagatccgcgCccaggcccgcgcgctcgggg	15	16	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:20870689C>T	ENST00000272224.3	+	2	1433	c.857C>T	c.(856-858)gCc>gTc	p.A286V		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	286					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGATCCGCGCCCAGGCCCGC	0.736													False	0	True	2:20870689	0	T	20870689	C	T	20870689	3	4	121	1	0	0	0	0	1	0	0	0	6363	739	26	2	863	2	GDF7	2	20870689	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		20870689	222328684	9	31906											
ZNF513	130557	broad.mit.edu	37	chr2	27602967	27602967	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgaaaacccaccttccgaGtctctctcgaagcccatgag	7	17	2	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:27602967G>T	ENST00000323703.6	-	2	402	c.204C>A	c.(202-204)gaC>gaA	p.D68E	ZNF513_ENST00000407879.1_Missense_Mutation_p.D6E	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	68	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTCCGAGTCTCTCTCGA	0.557													False	0	True	2:27602967	0	T	27602967	G	T	27602967	3	4	121	1	0	0	0	0	1	0	0	0	18041	1020	36	3	1433	3	ZNF513	2	27602967	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	6732278	27602967	215596406	10	31907											
SEMA4F	10505	broad.mit.edu	37	chr2	74906803	74906803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctccaagctcagcatggGcatcctgtgtgtggcaccag	12	12	2	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:74906803G>A	ENST00000357877.2	+	14	1929	c.1780G>A	c.(1780-1782)Gca>Aca	p.A594T	SEMA4F_ENST00000339773.5_Missense_Mutation_p.A439T|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	594	Ig-like C2-type.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTCAGCATGGGCATCCTGTGT	0.597													False	0	True	2:74906803	0	A	74906803	G	A	74906803	3	1	121	1	0	0	0	0	1	0	0	0	14116	1203	42	2	1834	2	SEMA4F	2	74906803	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	47303836	74906803	168292570	11	31908											
CNNM4	26504	broad.mit.edu	37	chr2	97426885	97426885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcacgatcgtgggcatgaGgctggcgagctgcaacaagt	17	9	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:97426885G>A	ENST00000377075.2	+	1	247	c.149G>A	c.(148-150)aGg>aAg	p.R50K		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	50					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GTGGGCATGAGGCTGGCGAGC	0.701													False	0	False	2:97426885	0	A	97426885	G	A	97426885	3	1	121	1	0	0	0	0	1	0	0	0	3638	1000	35	2	151	2	CNNM4	2	97426885	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	22520082	97426885	145772488	12	31909											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	121	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-LB-A9Q5-01A-11D-A397-08	420480	97847365	145352008	13	31910											
UGGT1	56886	broad.mit.edu	37	chr2	128941276	128941276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgttgtggatctgaagaaGtttaggaaaatagctgctgg	13	3	1	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:128941276G>A	ENST00000375990.3	+	38	4603	c.4200G>A	c.(4198-4200)aaG>aaA	p.K1400K	UGGT1_ENST00000259253.6_Silent_p.K1424K			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1424	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATCTGAAGAAGTTTAGGAAAA	0.423													False	0	True	2:128941276	0	A	128941276	G	A	128941276	2	1	121	1	0	0	0	0	0	0	0	1	17025	1020	36	2		2	UGGT1	2	128941276	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	31093911	128941276	114258097	14	31911											
CCDC74A	90557	broad.mit.edu	37	chr2	132290319	132290319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgcgaagtgctcatccgcGagctgtggaataccaacctc	11	12	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:132290319G>A	ENST00000295171.6	+	5	979	c.841G>A	c.(841-843)Gag>Aag	p.E281K	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.E215K	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	281										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCTCATCCGCGAGCTGTGGAA	0.677													False	0	False	2:132290319	0	A	132290319	G	A	132290319	3	1	121	1	0	0	0	0	1	0	0	0	2868	1059	37	1	859	1	CCDC74A	2	132290319	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	3349043	132290319	110909054	15	31912											
SCN1A	6323	broad.mit.edu	37	chr2	166930064	166930064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgcgtctttcaatagccGcaagagattctctggtgaag	10	9	3	2	rs139397227	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:166930064G>A	ENST00000423058.2	-	1	85	c.68C>T	c.(67-69)gCg>gTg	p.A23V	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.A23V|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A23V|SCN1A_ENST00000409050.1_Missense_Mutation_p.A23V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	23						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTCAATAGCCGCAAGAGATTC	0.423													False	0	False	2:166930064	0	A	166930064	G	A	166930064	3	1	121	1	0	0	0	0	1	0	0	0	13995	1087	38	1	6065	1	SCN1A	2	166930064	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	34639745	166930064	76269309	16	31913											
TTN	7273	broad.mit.edu	37	chr2	179398331	179398331	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtcttcaccatatttGttccttgccacaacagtata	5	12	2	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:179398331G>T	ENST00000589042.1	-	358	103235	c.103011C>A	c.(103009-103011)aaC>aaA	p.N34337K	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N31769K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N32696K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N25464K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N25397K|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N25272K|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32696	Ig-like 152.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCATATTTGTTCCTTGCCA	0.413													False	0	True	2:179398331	0	T	179398331	G	T	179398331	3	4	121	1	0	0	0	0	1	0	0	0	16819	1368	48	3	4988	3	TTN	2	179398331	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	12468267	179398331	63801042	17	31914											
LRRN1	57633	broad.mit.edu	37	chr3	3888153	3888153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagactcaaaagtcatgcGtaaatgtcacaaccaaaaat	6	9	3	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:3888153G>A	ENST00000319331.3	+	2	2589	c.1828G>A	c.(1828-1830)Gta>Ata	p.V610I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	610	Fibronectin type-III.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAAGTCATGCGTAAATGTCAC	0.458													False	0	False	3:3888153	0	A	3888153	G	A	3888153	3	1	121	1	0	0	0	0	1	0	0	0	9096	1145	40	1	1830	1	LRRN1	3	3888153	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		3888153	194134277	18	31915											
SCN5A	6331	broad.mit.edu	37	chr3	38601865	38601865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccagaagatgaggcagaCgaggaggacgttcatgatgg	17	6	1	5			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:38601865C>T	ENST00000413689.1	-	23	4211	c.4018G>A	c.(4018-4020)Gtc>Atc	p.V1340I	SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000333535.4_Missense_Mutation_p.V1340I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1340					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATGAGGCAGACGAGGAGGACG	0.577													False	0	False	3:38601865	0	T	38601865	C	T	38601865	3	4	121	1	0	0	0	0	1	0	0	0	14003	536	19	1	2056	1	SCN5A	3	38601865	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	34713712	38601865	159420565	19	31916											
SLC26A6	65010	broad.mit.edu	37	chr3	48667366	48667366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcaaccaccaagccaaggtCcaggttcagcaagatggtgg	12	12	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:48667366C>T	ENST00000358747.6	-	12	1655	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N	SLC26A6_ENST00000395550.2_Missense_Mutation_p.D490N|SLC26A6_ENST00000383733.3_Missense_Mutation_p.D490N|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D383N|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D490N|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D454N	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AAGCCAAGGTCCAGGTTCAGC	0.607													False	0	False	3:48667366	0	T	48667366	C	T	48667366	3	4	121	1	0	0	0	0	1	0	0	0	14601	855	30	2	883	2	SLC26A6	3	48667366	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	10065501	48667366	149355064	20	31917											
OR5K1	26339	broad.mit.edu	37	chr3	98188534	98188534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccatctatctgatcacCgtggtggggaatattagttt	10	7	3	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:98188534C>T	ENST00000332650.5	+	1	211	c.114C>T	c.(112-114)acC>acT	p.T38T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTGATCACCGTGGTGGGGA	0.433													False	0	False	3:98188534	0	T	98188534	C	T	98188534	2	4	121	1	0	0	0	0	0	0	0	1	11234	639	23	1		1	OR5K1	3	98188534	Silent	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	49521168	98188534	99833896	21	31918											
PLXNA1	5361	broad.mit.edu	37	chr3	126732924	126732924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcagtcgtgtggaacgGcaactttgtcattgacaacc	10	11	2	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:126732924G>A	ENST00000251772.4	+	10	2375	c.2306G>A	c.(2305-2307)gGc>gAc	p.G769D	PLXNA1_ENST00000393409.2_Missense_Mutation_p.G792D			Q9UIW2	PLXA1_HUMAN	plexin A1	792					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTGTGGAACGGCAACTTTGTC	0.632													False	0	False	3:126732924	0	A	126732924	G	A	126732924	3	1	121	1	0	0	0	0	1	0	0	0	12188	1203	42	2	2413	2	PLXNA1	3	126732924	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	28544390	126732924	71289506	22	31919											
RBP1	5947	broad.mit.edu	37	chr3	139257784	139257784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaagttggcgattttgcGcaaggccacattgacgtctg	12	10	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:139257784G>A	ENST00000483943.2	-	2	277	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Missense_Mutation_p.R93C|RBP1_ENST00000232219.2_Missense_Mutation_p.R93C	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	31						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	GCGATTTTGCGCAAGGCCACA	0.552													False	0	False	3:139257784	0	A	139257784	G	A	139257784	3	1	121	1	0	0	0	0	1	0	0	0	13234	1087	38	1	396	1	RBP1	3	139257784	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	12524860	139257784	58764646	23	31920											
TIGD4	201798	broad.mit.edu	37	chr4	153691501	153691501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagccatccatgtttgtgCcaaccaccagagttattctg	8	12	1	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:153691501C>T	ENST00000304337.2	-	2	1476	c.656G>A	c.(655-657)gGc>gAc	p.G219D		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	219	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CATGTTTGTGCCAACCACCAG	0.383													False	0	False	4:153691501	0	T	153691501	C	T	153691501	3	4	121	1	0	0	0	0	1	0	0	0	15980	739	26	2	886	2	TIGD4	4	153691501	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		153691501	37462775	24	31921											
DNAH5	1767	broad.mit.edu	37	chr5	13891148	13891148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggaagctgacaaagaggCgtgctgctcatttcttctag	13	8	3	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:13891148C>T	ENST00000265104.4	-	17	2618	c.2514G>A	c.(2512-2514)acG>acA	p.T838T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	838	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAAGAGGCGTGCTGCTCA	0.408									Kartagener syndrome				False	0	False	5:13891148	0	T	13891148	C	T	13891148	2	4	121	1	0	0	0	0	0	0	0	1	4634	755	27	1		1	DNAH5	5	13891148	Silent	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		13891148	167024112	25	31922											
GALNT10	55568	broad.mit.edu	37	chr5	153760011	153760011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttggcttcttcagaccGcattgctcggaaccgcaaga	9	13	3	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:153760011G>A	ENST00000297107.6	+	6	895	c.758G>A	c.(757-759)cGc>cAc	p.R253H	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	253	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCTTCAGACCGCATTGCTCGG	0.502													False	0	False	5:153760011	0	A	153760011	G	A	153760011	3	1	121	1	0	0	0	0	1	0	0	0	6251	1087	38	1	780	1	GALNT10	5	153760011	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	139868863	153760011	27155249	26	31923											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	121	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-LB-A9Q5-01A-11D-A397-08		7393450	163721617	27	31924											
HIST1H2BB	3018	broad.mit.edu	37	chr6	26043725	26043725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccttggatgagatgCcggtgtcggggtggacctgc	17	10	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:26043725C>T	ENST00000357905.2	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	54					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGATGAGATGCCGGTGTCGGG	0.547													False	0	False	6:26043725	0	T	26043725	C	T	26043725	3	4	121	1	0	0	0	0	1	0	0	0	7188	739	26	2	223	2	HIST1H2BB	6	26043725	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	18650275	26043725	145071342	28	31925											
TCP11	6954	broad.mit.edu	37	chr6	35088799	35088799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatgtccattttcatcCggcccagaacctggaagatc	7	14	2	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:35088799C>T	ENST00000311875.5	-	6	1058	c.641G>A	c.(640-642)cGg>cAg	p.R214Q	TCP11_ENST00000373974.4_Missense_Mutation_p.R168Q|TCP11_ENST00000418521.2_Missense_Mutation_p.R138Q|TCP11_ENST00000412155.2_Missense_Mutation_p.R163Q|TCP11_ENST00000373979.2_Missense_Mutation_p.R139Q|TCP11_ENST00000244645.3_Missense_Mutation_p.R139Q|TCP11_ENST00000512012.1_Missense_Mutation_p.R201Q|TCP11_ENST00000444780.2_Missense_Mutation_p.R209Q			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	201					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CATTTTCATCCGGCCCAGAAC	0.453													False	0	False	6:35088799	0	T	35088799	C	T	35088799	3	4	121	1	0	0	0	0	1	0	0	0	15795	652	23	1	929	1	TCP11	6	35088799	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	9045074	35088799	136026268	29	31926											
ABCA13	154664	broad.mit.edu	37	chr7	48494876	48494876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagcgggccgagacctacTttttcaggtaagttgttttt	10	9	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:48494876T>C	ENST00000435803.1	+	43	12832	c.12808T>C	c.(12808-12810)Ttt>Ctt	p.F4270L	ABCA13_ENST00000544596.1_Missense_Mutation_p.F30L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4270					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGAGACCTACTTTTTCAGGTA	0.463													False	0	True	7:48494876	0	C	48494876	T	C	48494876	3	2	121	1	0	0	0	0	1	0	0	0	31	1609	56	4	12807	4	ABCA13	7	48494876	Missense_Mutation	SNP	T	TCGA-LB-A9Q5-01A-11D-A397-08		48494876	110643787	30	31927											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	11	12	1	1	rs147859349		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													False	0	False	7:72398976	0	G	72398976	A	G	72398976	3	3	121	1	0	0	0	0	1	0	0	0	12308	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-LB-A9Q5-01A-11D-A397-08	23904100	72398976	86739687	31	31928											
PIK3CG	5294	broad.mit.edu	37	chr7	106508683	106508683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttcatcgtcattcaccGcagcaccaccagccagacca	5	18	4	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:106508683G>A	ENST00000359195.3	+	2	987	c.677G>A	c.(676-678)cGc>cAc	p.R226H	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R226H|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R226H	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	226					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTCATTCACCGCAGCACCACC	0.572													False	0	False	7:106508683	0	A	106508683	G	A	106508683	3	1	121	1	0	0	0	0	1	0	0	0	11985	1087	38	1	679	1	PIK3CG	7	106508683	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	34109707	106508683	52629980	32	31929											
MYOM2	9172	broad.mit.edu	37	chr8	2041906	2041906	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcagacgtcataaaagtgCaggccgcactcagtaagtca	9	10	4	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:2041906C>T	ENST00000262113.4	+	17	2254	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.Q130*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	705					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CATAAAAGTGCAGGCCGCACT	0.488													False	0	False	8:2041906	0	T	2041906	C	T	2041906	4	4	121	1	0	0	0	0	0	1	0	0	10159	711	25	2	2175	2	MYOM2	8	2041906	Nonsense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		2041906	144322116	33	31930											
TEX15	56154	broad.mit.edu	37	chr8	30705431	30705431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataattttgatttattttcCccaatttcagttccattagc	3	9	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:30705431C>T	ENST00000256246.2	-	1	1177	c.1103G>A	c.(1102-1104)gGg>gAg	p.G368E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	368										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTATTTTCCCCAATTTCAG	0.383													False	0	True	8:30705431	0	T	30705431	C	T	30705431	3	4	121	1	0	0	0	0	1	0	0	0	15861	623	22	2	7282	2	TEX15	8	30705431	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	28663525	30705431	115658591	34	31931											
TACC1	6867	broad.mit.edu	37	chr8	38677137	38677137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatgaagtgccacagcaGgccattgactctcactcagt	9	11	2	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:38677137G>A	ENST00000379931.3	+	3	754	c.375G>A	c.(373-375)caG>caA	p.Q125Q	TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Silent_p.Q80Q|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000317827.4_Silent_p.Q125Q|TACC1_ENST00000520340.1_Silent_p.Q89Q|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000443286.2_Silent_p.Q141Q|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000522752.1_Intron			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	125					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGCCACAGCAGGCCATTGACT	0.383													False	0	False	8:38677137	0	A	38677137	G	A	38677137	2	1	121	1	0	0	0	0	0	0	0	1	15583	991	35	2		2	TACC1	8	38677137	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	7971706	38677137	107686885	35	31932											
ADAM2	2515	broad.mit.edu	37	chr8	39624518	39624518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaatattcagggaggtcGcattcttcaaaggaaggcct	11	8	3	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:39624518G>A	ENST00000265708.4	-	14	1459	c.1356C>T	c.(1354-1356)tgC>tgT	p.C452C	ADAM2_ENST00000347580.4_Silent_p.C433C|ADAM2_ENST00000379853.2_Silent_p.C326C|ADAM2_ENST00000521880.1_Silent_p.C452C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	452	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CAGGGAGGTCGCATTCTTCAA	0.398													False	0	False	8:39624518	0	A	39624518	G	A	39624518	2	1	121	1	0	0	0	0	0	0	0	1	241	1079	38	1		1	ADAM2	8	39624518	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	947381	39624518	106739504	36	31933											
TPD52	7163	broad.mit.edu	37	chr8	80954871	80954871	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctttaagttttcgaccTtttcttcaaatgatttaaaa	4	7	2	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:80954871T>G	ENST00000379096.5	-	5	533	c.419A>C	c.(418-420)aAg>aCg	p.K140T	TPD52_ENST00000517427.1_Missense_Mutation_p.K189T|TPD52_ENST00000537855.1_Missense_Mutation_p.K180T|TPD52_ENST00000379097.3_Missense_Mutation_p.K180T|TPD52_ENST00000448733.2_Missense_Mutation_p.K194T|TPD52_ENST00000520527.1_Missense_Mutation_p.K203T|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000519303.2_Missense_Mutation_p.K16T|TPD52_ENST00000518937.1_Missense_Mutation_p.K163T	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	180					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GTTTTCGACCTTTTCTTCAAA	0.308													False	0	True	8:80954871	0	G	80954871	T	G	80954871	3	3	121	1	0	0	0	0	1	0	0	0	16480	1609	56	4	143	4	TPD52	8	80954871	Missense_Mutation	SNP	T	TCGA-LB-A9Q5-01A-11D-A397-08	41330353	80954871	65409151	37	31934											
SCRIB	23513	broad.mit.edu	37	chr8	144895217	144895217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgggggcagtgctgacaGctggttccggtcaagccaca	14	13	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:144895217G>A	ENST00000356994.2	-	7	631	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	SCRIB_ENST00000320476.3_Silent_p.L209L|SCRIB_ENST00000377533.3_Silent_p.L128L	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	209	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGTGCTGACAGCTGGTTCCGG	0.622													False	0	False	8:144895217	0	A	144895217	G	A	144895217	2	1	121	1	0	0	0	0	0	0	0	1	14018	962	34	2		2	SCRIB	8	144895217	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	63940346	144895217	1468805	38	31935											
PRSS3	5646	broad.mit.edu	37	chr9	33796802	33796803	+	Splice_Site	INS	-	-	TGG													agctcactgctacaagacgtINSaagtgtggggcccctgactg							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:33796802_33796803insTGG	ENST00000361005.5	+	2	371		c.e2+2		PRSS3_ENST00000342836.4_Splice_Site|PRSS3_ENST00000429677.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Splice_Site	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3						digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CTACAAGACGTAAGTGTGGGGC	0.594													False	0	False	9:33796802	0	TGG	33796803	-	TGG	33796802	8	5	121	1	0	1	1	0	0	0	1	0	12698	1652	57	0	423	0	PRSS3	9	33796802	Splice_Site	INS	-	TCGA-LB-A9Q5-01A-11D-A397-08		33796802	107416629	39	31936											
TGFBR1	7046	broad.mit.edu	37	chr9	101911492	101911492	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taatggctaaaattatgagaGaatgttggtatgccaatgga	11	3	0	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:101911492G>A	ENST00000374994.4	+	9	1534	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	TGFBR1_ENST00000374990.2_Missense_Mutation_p.E396K|TGFBR1_ENST00000552516.1_Missense_Mutation_p.E477K|TGFBR1_ENST00000550253.1_Missense_Mutation_p.E404K	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	473	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AATTATGAGAGAATGTTGGTA	0.348													False	0	True	9:101911492	0	A	101911492	G	A	101911492	3	1	121	1	0	0	0	0	1	0	0	0	15903	943	33	2	1451	2	TGFBR1	9	101911492	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	68114690	101911492	39301939	40	31937											
TTC16	158248	broad.mit.edu	37	chr9	130493021	130493021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcgtcactgttgaagacGcaatcctcggactctgggaa	11	11	2	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:130493021G>A	ENST00000373289.3	+	14	2039	c.1959G>A	c.(1957-1959)acG>acA	p.T653T	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	653							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGTTGAAGACGCAATCCTCGG	0.567													False	0	False	9:130493021	0	A	130493021	G	A	130493021	2	1	121	1	0	0	0	0	0	0	0	1	16767	1074	38	1		1	TTC16	9	130493021	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	28581529	130493021	10720410	41	31938											
PBLD	64081	broad.mit.edu	37	chr10	70056061	70056061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcagaagccagggtgGcatggccacagagtgggacc	16	11	0	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:70056061G>A	ENST00000358769.2	-	4	447	c.245C>T	c.(244-246)gCc>gTc	p.A82V	PBLD_ENST00000336578.1_Missense_Mutation_p.A49V|PBLD_ENST00000309049.4_Missense_Mutation_p.A82V|PBLD_ENST00000432941.1_Missense_Mutation_p.A82V|PBLD_ENST00000495025.2_Missense_Mutation_p.A82V	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	82					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGCCAGGGTGGCATGGCCACA	0.423													False	0	False	10:70056061	0	A	70056061	G	A	70056061	3	1	121	1	0	0	0	0	1	0	0	0	11557	1203	42	2	738	2	PBLD	10	70056061	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		70056061	65478686	42	31939											
HK1	3098	broad.mit.edu	37	chr10	71119706	71119706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttcctttcgaattctgCgggtgcaagtgaatcatgag	12	8	3	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:71119706C>T	ENST00000448642.2	+	8	774	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	HK1_ENST00000359426.6_Missense_Mutation_p.R94W|HK1_ENST00000298649.3_Missense_Mutation_p.R93W|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.R82W|HK1_ENST00000404387.2_Missense_Mutation_p.R98W			P19367	HXK1_HUMAN	hexokinase 1	94	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TCGAATTCTGCGGGTGCAAGT	0.478													False	0	True	10:71119706	0	T	71119706	C	T	71119706	3	4	121	1	0	0	0	0	1	0	0	0	7237	759	27	1	468	1	HK1	10	71119706	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	1063645	71119706	64415041	43	31940											
ABCC2	1244	broad.mit.edu	37	chr10	101611304	101611304	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attatagagtgcggcagcccTgaagaactgctacaaatccc	9	11	0	3			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:101611304T>C	ENST00000370449.4	+	32	4667	c.4554T>C	c.(4552-4554)ccT>ccC	p.P1518P		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1518	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCGGCAGCCCTGAAGAACTGC	0.448													False	0	True	10:101611304	0	C	101611304	T	C	101611304	2	2	121	1	0	0	0	0	0	0	0	1	53	1567	55	4		4	ABCC2	10	101611304	Silent	SNP	T	TCGA-LB-A9Q5-01A-11D-A397-08	30491598	101611304	33923443	44	31941											
TMEM180	79847	broad.mit.edu	37	chr10	104235646	104235646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagctcttcacctggTcccagttcacgctgcatggg	11	14	3	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:104235646T>C	ENST00000238936.4	+	10	1696	c.1459T>C	c.(1459-1461)Tcc>Ccc	p.S487P	TMEM180_ENST00000366277.2_Missense_Mutation_p.S216P	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	487						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTTCACCTGGTCCCAGTTCAC	0.627													False	0	True	10:104235646	0	C	104235646	T	C	104235646	3	2	121	1	0	0	0	0	1	0	0	0	16181	1667	58	4	1489	4	TMEM180	10	104235646	Missense_Mutation	SNP	T	TCGA-LB-A9Q5-01A-11D-A397-08	2624342	104235646	31299101	45	31942											
EIF3A	8661	broad.mit.edu	37	chr10	120801889	120801889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagcgcctcctcgcctcGgcccccggtcatcatccatc	7	21	3	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:120801889G>A	ENST00000369144.3	-	19	3270	c.3143C>T	c.(3142-3144)cCg>cTg	p.P1048L	EIF3A_ENST00000541549.1_Missense_Mutation_p.P1014L	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1048	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCCTCGCCTCGGCCCCCGGTC	0.607													False	0	True	10:120801889	0	A	120801889	G	A	120801889	3	1	121	1	0	0	0	0	1	0	0	0	5042	1116	39	1	1021	1	EIF3A	10	120801889	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	16566243	120801889	14732858	46	31943											
OR52B4	143496	broad.mit.edu	37	chr11	4389022	4389022	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atattattctggcagaaagtCaatctttttaaaagaaatat	5	4	3	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:4389022C>T	ENST00000408920.2	-	1	594	c.504G>A	c.(502-504)ttG>ttA	p.L168L		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCAGAAAGTCAATCTTTTTA	0.343													False	0	False	11:4389022	0	T	4389022	C	T	4389022	2	4	121	1	0	0	0	0	0	0	0	1	11180	825	29	2		2	OR52B4	11	4389022	Silent	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		4389022	130617494	47	31944											
ABTB2	25841	broad.mit.edu	37	chr11	34226220	34226220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtaggggctgaagtatgCggggagggagaggacaccta	19	5	0	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:34226220C>T	ENST00000435224.2	-	2	1325	c.901G>A	c.(901-903)Gca>Aca	p.A301T	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.A115T	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	115							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGAAGTATGCGGGGAGGGAG	0.637													False	0	True	11:34226220	0	T	34226220	C	T	34226220	3	4	121	1	0	0	0	0	1	0	0	0	103	768	27	1	2240	1	ABTB2	11	34226220	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	29837198	34226220	100780296	48	31945											
DPAGT1	1798	broad.mit.edu	37	chr11	118971495	118971495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagattcagtacatcatccGcaaagcccaggaagatcatg	9	11	3	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:118971495G>A	ENST00000409993.2	-	5	1892	c.341C>T	c.(340-342)gCg>gTg	p.A114V	DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.A114V|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A7V			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	114					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TACATCATCCGCAAAGCCCAG	0.567											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:118971495	0	A	118971495	G	A	118971495	3	1	121	1	0	0	0	0	1	0	0	0	4740	1087	38	1	913	1	DPAGT1	11	118971495	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	84745275	118971495	16035021	49	31946											
ROBO4	54538	broad.mit.edu	37	chr11	124761327	124761327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagctggggtgggaggcGcctgacagctgggacctggg	21	10	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:124761327G>A	ENST00000306534.3	-	12	2301	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C|RP11-664I21.6_ENST00000524433.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	606					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGTGGGAGGCGCCTGACAGCT	0.662													False	0	False	11:124761327	0	A	124761327	G	A	124761327	3	1	121	1	0	0	0	0	1	0	0	0	13595	1087	38	1	1235	1	ROBO4	11	124761327	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	5789832	124761327	10245189	50	31947											
CCND2	894	broad.mit.edu	37	chr12	4387932	4387932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccttcccctccaggagtggGaactggtggtgctggggaag	17	10	0	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:4387932G>A	ENST00000261254.3	+	3	687	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	140	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CCAGGAGTGGGAACTGGTGGT	0.562			T	IGL@	"NHL,CLL"								False	0	True	12:4387932	0	A	4387932	G	A	4387932	3	1	121	1	0	0	0	0	1	0	0	0	2940	1175	41	2	428	2	CCND2	12	4387932	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		4387932	129463963	51	31948											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	121	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	21010352	25398284	108453611	52	31949											
ATP5B	506	broad.mit.edu	37	chr12	57037309	57037309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaccaccatgggctttggCgacattgttgattaactcca	9	10	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:57037309C>T	ENST00000262030.3	-	5	720	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	ATP5B_ENST00000552919.1_Missense_Mutation_p.A224T	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	224					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.A224T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGCTTTGGCGACATTGTTG	0.413													False	0	False	12:57037309	0	T	57037309	C	T	57037309	3	4	121	1	0	0	0	0	1	0	0	0	1152	768	27	1	943	1	ATP5B	12	57037309	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	31639025	57037309	76814586	53	31950											
UPF3A	65110	broad.mit.edu	37	chr13	115070324	115070324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgagcgcgagagtgtggcGgaaacaggaggatctgcaag	17	8	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr13:115070324G>A	ENST00000375299.3	+	10	1419	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R	UPF3A_ENST00000351487.5_Missense_Mutation_p.G422R|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	455					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		AGAGTGTGGCGGAAACAGGAG	0.592													False	0	False	13:115070324	0	A	115070324	G	A	115070324	3	1	121	1	0	0	0	0	1	0	0	0	17089	1117	39	1	1401	1	UPF3A	13	115070324	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		115070324	99554	54	31951											
SMEK1	55671	broad.mit.edu	37	chr14	91931722	91931722	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatgtagcggttgtaaaactCatcttttaatccaataatct	5	7	3	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:91931722C>T	ENST00000554684.1	-	11	2159	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	SMEK1_ENST00000554943.1_Missense_Mutation_p.E568K|SMEK1_ENST00000337238.4_Missense_Mutation_p.E555K|SMEK1_ENST00000555462.1_Missense_Mutation_p.E329K|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000428424.2_Missense_Mutation_p.E329K	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	568						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTGTAAAACTCATCTTTTAAT	0.358													False	0	False	14:91931722	0	T	91931722	C	T	91931722	3	4	121	1	0	0	0	0	1	0	0	0	14873	835	29	2	819	2	SMEK1	14	91931722	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		91931722	15417818	55	31952											
CDC42BPB	9578	broad.mit.edu	37	chr14	103434632	103434632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgttttcatcaaacagCatcgctctttctcgttcgta	5	11	5	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:103434632C>A	ENST00000361246.2	-	16	2592	c.2304G>T	c.(2302-2304)atG>atT	p.M768I		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	768					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CATCAAACAGCATCGCTCTTT	0.368													False	0	False	14:103434632	0	A	103434632	C	A	103434632	3	1	121	1	0	0	0	0	1	0	0	0	3096	710	25	3	2919	3	CDC42BPB	14	103434632	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	11502910	103434632	3914908	56	31953											
CHRNB4	1143	broad.mit.edu	37	chr15	78922232	78922232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagccacaggacgctgcCgttggaccggactatcaagt	14	12	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:78922232C>T	ENST00000261751.3	-	5	526	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	139					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.G139C(1)|p.G139S(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGGACGCTGCCGTTGGACCGG	0.572													False	0	False	15:78922232	0	T	78922232	C	T	78922232	3	4	121	1	0	0	0	0	1	0	0	0	3416	652	23	1	1089	1	CHRNB4	15	78922232	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		78922232	23609160	57	31954											
DET1	55070	broad.mit.edu	37	chr15	89074164	89074164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatcctcatagcaaaagCggccaatggtccgcacatca	9	13	3	0	rs138430376	by1000genomes	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:89074164C>T	ENST00000564406.1	-	3	966	c.806G>A	c.(805-807)cGc>cAc	p.R269H	DET1_ENST00000558413.1_3'UTR|DET1_ENST00000268148.8_Missense_Mutation_p.R258H|DET1_ENST00000444300.1_Missense_Mutation_p.R269H	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	258						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ATAGCAAAAGCGGCCAATGGT	0.507													False	0	False	15:89074164	0	T	89074164	C	T	89074164	3	4	121	1	0	0	0	0	1	0	0	0	4480	768	27	1	895	1	DET1	15	89074164	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	10151932	89074164	13457228	58	31955											
PKD1	5310	broad.mit.edu	37	chr16	2160250	2160250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggaagtagcggccacCgcccaccacctgcagcccct	13	17	0	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:2160250C>T	ENST00000262304.4	-	15	5126	c.4918G>A	c.(4918-4920)Ggt>Agt	p.G1640S	PKD1_ENST00000423118.1_Missense_Mutation_p.G1640S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1640	PKD 12.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAGCGGCCACCGCCCACCACC	0.617													False	0	False	16:2160250	0	T	2160250	C	T	2160250	3	4	121	1	0	0	0	0	1	0	0	0	12032	652	23	1	8121	1	PKD1	16	2160250	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		2160250	88194503	59	31956											
C16orf62	57020	broad.mit.edu	37	chr16	19680556	19680556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaatattgatgggaagatgCggccatcggaatcgttcctt	11	7	0	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:19680556C>T	ENST00000438132.3	+	27	2611	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	C16orf62_ENST00000251143.5_Missense_Mutation_p.R766W|C16orf62_ENST00000542263.1_Missense_Mutation_p.R762W|C16orf62_ENST00000448695.1_Missense_Mutation_p.R616W|C16orf62_ENST00000543152.1_Missense_Mutation_p.R515W|C16orf62_ENST00000417362.2_Missense_Mutation_p.R673W	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	766						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGGGAAGATGCGGCCATCGGA	0.418													False	0	False	16:19680556	0	T	19680556	C	T	19680556	3	4	121	1	0	0	0	0	1	0	0	0	1835	759	27	1	2402	1	C16orf62	16	19680556	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	17520306	19680556	70674197	60	31957											
SHCBP1	79801	broad.mit.edu	37	chr16	46615801	46615801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctttctgtgtggaggcaGcaattagttcatttacaatt	10	7	2	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:46615801G>A	ENST00000303383.3	-	13	2125	c.1859C>T	c.(1858-1860)gCt>gTt	p.A620V		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	620										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TGTGGAGGCAGCAATTAGTTC	0.438													False	0	False	16:46615801	0	A	46615801	G	A	46615801	3	1	121	1	0	0	0	0	1	0	0	0	14355	971	34	2	163	2	SHCBP1	16	46615801	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	26935245	46615801	43738952	61	31958											
MLKL	197259	broad.mit.edu	37	chr16	74729301	74729301	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgaaacaggcatgcgttgctCaacctgaagtaacagcgaga	11	9	1	3			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:74729301C>G	ENST00000308807.7	-	2	818	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	MLKL_ENST00000306247.7_Missense_Mutation_p.E119Q	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	119							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						ATGCGTTGCTCAACCTGAAGT	0.517													False	0	False	16:74729301	0	G	74729301	C	G	74729301	3	3	121	1	0	0	0	0	1	0	0	0	9686	835	29	5	1131	5	MLKL	16	74729301	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	28113500	74729301	15625452	62	31959											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		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)			False	0	True	17:7578212	0	A	7578212	G	A	7578212	4	1	121	1	0	0	0	0	0	1	0	0	16464	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		7578212	73616998	63	31960											
KRT24	192666	broad.mit.edu	37	chr17	38859689	38859689	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agctagaacccccaccaaatCctgtcccagagcctgaagct	7	16	0	3			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:38859689C>A	ENST00000264651.2	-	1	313	c.257G>T	c.(256-258)gGa>gTa	p.G86V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	86	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCCACCAAATCCTGTCCCAGA	0.582													False	0	False	17:38859689	0	A	38859689	C	A	38859689	3	1	121	1	0	0	0	0	1	0	0	0	8511	855	30	3	1352	3	KRT24	17	38859689	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	31281477	38859689	42335521	64	31961											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917415	48917415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgggagaatgtggtcatgCggcccaaccatgtgcgtggc	15	10	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:48917415C>T	ENST00000311378.4	+	2	1294	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R163W	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	256	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGTGGTCATGCGGCCCAACCA	0.602													False	0	False	17:48917415	0	T	48917415	C	T	48917415	3	4	121	1	0	0	0	0	1	0	0	0	17443	759	27	1	772	1	WFIKKN2	17	48917415	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	10057726	48917415	32277795	65	31962											
FASN	2194	broad.mit.edu	37	chr17	80046303	80046303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagggggaacctgaaccGttggggaagtcctcggcggc	18	10	0	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:80046303G>A	ENST00000306749.2	-	16	2774	c.2556C>T	c.(2554-2556)aaC>aaT	p.N852N		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	852					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AACCTGAACCGTTGGGGAAGT	0.667													False	0	False	17:80046303	0	A	80046303	G	A	80046303	2	1	121	1	0	0	0	0	0	0	0	1	5723	1136	40	1		1	FASN	17	80046303	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	31128888	80046303	1148907	66	31963											
THOC1	9984	broad.mit.edu	37	chr18	264052	264052	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttactcccccaatagcaagaGaaataatagctaaaacgttt	5	9	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr18:264052G>A	ENST00000261600.6	-	4	237	c.230C>T	c.(229-231)tCt>tTt	p.S77F	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	77					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AATAGCAAGAGAAATAATAGC	0.343													False	0	True	18:264052	0	A	264052	G	A	264052	3	1	121	1	0	0	0	0	1	0	0	0	15946	942	33	2	1815	2	THOC1	18	264052	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		264052	77813196	67	31964											
SMAD4	4089	broad.mit.edu	37	chr18	48593400	48593400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctaaggttgcacatagGcaaaggtgtgcagttggaat	12	7	0	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr18:48593400G>A	ENST00000342988.3	+	10	1689	c.1151G>A	c.(1150-1152)gGc>gAc	p.G384D	SMAD4_ENST00000398417.2_Missense_Mutation_p.G384D|SMAD4_ENST00000588745.1_Missense_Mutation_p.G288D	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	384	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTGCACATAGGCAAAGGTGTG	0.348													False	0	False	18:48593400	0	A	48593400	G	A	48593400	3	1	121	1	0	0	0	0	1	0	0	0	14840	1203	42	2	1185	2	SMAD4	18	48593400	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	48329348	48593400	29483848	68	31965											
ABCA7	10347	broad.mit.edu	37	chr19	1046233	1046233	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcccctctcgcaggtttTgggaccctggcccagccgcg	12	17	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:1046233T>G	ENST00000263094.6	+	13	1681	c.1450T>G	c.(1450-1452)Tgg>Ggg	p.W484G	ABCA7_ENST00000433129.1_Missense_Mutation_p.W484G|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.W346G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	484					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCAGGTTTTGGGACCCTGG	0.642													False	0	True	19:1046233	0	G	1046233	T	G	1046233	3	3	121	1	0	0	0	0	1	0	0	0	37	1812	63	4	1496	4	ABCA7	19	1046233	Missense_Mutation	SNP	T	TCGA-LB-A9Q5-01A-11D-A397-08		1046233	58082750	69	31966											
TICAM1	148022	broad.mit.edu	37	chr19	4816396	4816396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggggtgcgggtgaggccGtagggaaggctggggactgc	24	6	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:4816396G>A	ENST00000248244.5	-	2	2223	c.1994C>T	c.(1993-1995)aCg>aTg	p.T665M		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	665	Pro-rich.|Sufficient to induce apoptosis.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGTGAGGCCGTAGGGAAGGC	0.662													False	0	False	19:4816396	0	A	4816396	G	A	4816396	3	1	121	1	0	0	0	0	1	0	0	0	15974	1145	40	1	148	1	TICAM1	19	4816396	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	3770163	4816396	54312587	70	31967											
CPAMD8	27151	broad.mit.edu	37	chr19	17038840	17038840	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatggaggcggtggctcGctcagacccagggatggcgc	18	10	1	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:17038840G>A	ENST00000443236.1	-	25	3521	c.3490C>T	c.(3490-3492)Cga>Tga	p.R1164*		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1117						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCGGTGGCTCGCTCAGACCCA	0.617													False	0	True	19:17038840	0	A	17038840	G	A	17038840	4	1	121	1	0	0	0	0	0	1	0	0	3818	1095	38	1	2380	1	CPAMD8	19	17038840	Nonsense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	12222444	17038840	42090143	71	31968											
NLRP8	126205	broad.mit.edu	37	chr19	56466067	56466067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagggagctcctgggatcGgaaaaacaatcctggccaaa	11	10	0	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:56466067G>A	ENST00000291971.3	+	3	714	c.643G>A	c.(643-645)Gga>Aga	p.G215R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G215R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	215	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCTGGGATCGGAAAAACAAT	0.527													False	0	False	19:56466067	0	A	56466067	G	A	56466067	3	1	121	1	0	0	0	0	1	0	0	0	10551	1117	39	1	653	1	NLRP8	19	56466067	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	39427227	56466067	2662916	72	31969											
ZNF584	201514	broad.mit.edu	37	chr19	58928643	58928643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggtaaaaccttcaaccGcaaagacgcacttgttctac	7	12	2	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:58928643G>A	ENST00000306910.4	+	4	1281	c.758G>A	c.(757-759)cGc>cAc	p.R253H	ZNF584_ENST00000593920.1_Missense_Mutation_p.R208H|ZNF584_ENST00000599238.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		ACCTTCAACCGCAAAGACGCA	0.463													False	0	False	19:58928643	0	A	58928643	G	A	58928643	3	1	121	1	0	0	0	0	1	0	0	0	18099	1087	38	1	772	1	ZNF584	19	58928643	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	2462576	58928643	200340	73	31970											
SEL1L2	80343	broad.mit.edu	37	chr20	13850192	13850192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgtgcgtcgggccacccTttttccgcagctttctgaaa	9	13	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:13850192T>C	ENST00000284951.5	-	14	1286	c.1212A>G	c.(1210-1212)aaA>aaG	p.K404K	SEL1L2_ENST00000378072.5_Silent_p.K404K|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	404						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGGCCACCCTTTTTCCGCAG	0.393													False	0	True	20:13850192	0	C	13850192	T	C	13850192	2	2	121	1	0	0	0	0	0	0	0	1	14092	1606	56	4		4	SEL1L2	20	13850192	Silent	SNP	T	TCGA-LB-A9Q5-01A-11D-A397-08		13850192	49175328	74	31971											
PHACTR3	116154	broad.mit.edu	37	chr20	58318299	58318299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatggaggaaaaagaaaaacGaaaaactgaagcagacaacg	10	5	0	3			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:58318299G>A	ENST00000371015.1	+	2	723	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	PHACTR3_ENST00000395639.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E45K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E45K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E83K	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	86						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAAGAAAAACGAAAAACTGAA	0.577													False	0	True	20:58318299	0	A	58318299	G	A	58318299	3	1	121	1	0	0	0	0	1	0	0	0	11880	1059	37	1	262	1	PHACTR3	20	58318299	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	44468107	58318299	4707221	75	31972											
MICAL3	57553	broad.mit.edu	37	chr22	18301393	18301393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctcgggccccttgctgCggtccacaggtgtgagcccg	16	14	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr22:18301393C>T	ENST00000441493.2	-	26	4386	c.4034G>A	c.(4033-4035)cGc>cAc	p.R1345H		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1345	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCCCTTGCTGCGGTCCACAGG	0.632													False	0	False	22:18301393	0	T	18301393	C	T	18301393	3	4	121	1	0	0	0	0	1	0	0	0	9638	768	27	1	2002	1	MICAL3	22	18301393	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		18301393	33003173	76	31973											
DGKK	139189	broad.mit.edu	37	chrX	50213545	50213556	+	RNA	DEL	GCGGCGGAGCCG	GCGGCGGAGCCG	-													tggcgaagcctcggagagcaGcggcggagccggcggcggag							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	GCGGCGGAGCCG	GCGGCGGAGCCG	-	-	GCGGCGGAGCCG	GCGGCGGAGCCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:50213545_50213556delGCGGCGGAGCCG	ENST00000376025.2	-	0	181_192							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGGAGAgcagcggcggagccggcggcggagc	0.693													False	1	False	X:50213545	0	-	50213556	GCGGCGGAGCCG	-	50213545	6	5	121	0	1	1	0	1	0	0	0	0	4502	962	34	0		0	DGKK	23	50213545	RNA	DEL	GCGGCGGAGCCG	TCGA-LB-A9Q5-01A-11D-A397-08		50213545	105057015	77	31974											
HUWE1	10075	broad.mit.edu	37	chrX	53566769	53566769	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccctgtggggttccatcGgaggctggagggcacacaga	15	12	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:53566769G>T	ENST00000342160.3	-	74	11938	c.11481C>A	c.(11479-11481)tcC>tcA	p.S3827S	HUWE1_ENST00000262854.6_Silent_p.S3827S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3827					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGGTTCCATCGGAGGCTGGAG	0.502													False	0	False	X:53566769	0	T	53566769	G	T	53566769	2	4	121	1	0	0	0	0	0	0	0	1	7511	1103	39	3		3	HUWE1	23	53566769	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	3353224	53566769	101703791	78	31975											
BEX4	56271	broad.mit.edu	37	chrX	102471391	102471391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagatgaggcactatatgCgcttccaaactcctgaacct	8	12	0	3	rs139178618	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:102471391C>T	ENST00000372695.5	+	3	545	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	BEX4_ENST00000372691.3_Missense_Mutation_p.R104C	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	104						cytoplasm|nucleus				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GCACTATATGCGCTTCCAAAC	0.418													False	0	False	X:102471391	0	T	102471391	C	T	102471391	3	4	121	1	0	0	0	0	1	0	0	0	1417	768	27	1	312	1	BEX4	23	102471391	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	48904622	102471391	52799169	79	31976											
MTM1	4534	broad.mit.edu	37	chrX	149832023	149832023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatccagttgccagtatgCgtcacttggaactctgggtg	11	9	2	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:149832023C>T	ENST00000370396.2	+	14	1639	c.1585C>T	c.(1585-1587)Cgt>Tgt	p.R529C	MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R414C|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.R492C	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	529	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGTATGCGTCACTTGGA	0.358													False	0	False	X:149832023	0	T	149832023	C	T	149832023	3	4	121	1	0	0	0	0	1	0	0	0	10004	768	27	1	1635	1	MTM1	23	149832023	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	47360632	149832023	5438537	80	31977											
PDZD4	57595	broad.mit.edu	37	chrX	153069209	153069209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcgcacgggccgcttggCcacgtagcgggttccgtcgc	14	15	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:153069209C>T	ENST00000164640.4	-	8	2100	c.1909G>A	c.(1909-1911)Gcc>Acc	p.A637T	PDZD4_ENST00000544474.1_Missense_Mutation_p.A528T|PDZD4_ENST00000393758.2_Missense_Mutation_p.A562T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	637						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCGCTTGGCCACGTAGCGG	0.701													False	0	False	X:153069209	0	T	153069209	C	T	153069209	3	4	121	1	0	0	0	0	1	0	0	0	11771	739	26	2	404	2	PDZD4	23	153069209	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	3237186	153069209	2201351	81	31978											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854372	12854372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taaatatctcagaaagtcatTgaaaataatatacctgaata	4	5	2	3			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:12854372T>C	ENST00000332296.7	+	3	699	c.596T>C	c.(595-597)tTg>tCg	p.L199S		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	199										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAAGTCATTGAAAATAATA	0.403													False	0	False	1:12854372	0	C	12854372	T	C	12854372	3	2	122	1	0	0	0	0	1	0	0	0	12499	1821	63	4	602	4	PRAMEF1	1	12854372	Missense_Mutation	SNP	T	TCGA-M8-A5N4-01A-11D-A26I-08		12854372	236396249	1	31979											
SPEN	23013	broad.mit.edu	37	chr1	16264319	16264319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagcagaagtaccccatcGtgtggcagggcctgctggcc	15	12	0	2			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:16264319G>A	ENST00000375759.3	+	13	10726	c.10522G>A	c.(10522-10524)Gtg>Atg	p.V3508M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3508	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTACCCCATCGTGTGGCAGGG	0.597													False	0	False	1:16264319	0	A	16264319	G	A	16264319	3	1	122	1	0	0	0	0	1	0	0	0	15120	1145	40	1	10572	1	SPEN	1	16264319	Missense_Mutation	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	3409947	16264319	232986302	2	31980											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	122	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-M8-A5N4-01A-11D-A26I-08	136407196	152671515	96579106	3	31981											
OR6Y1	391112	broad.mit.edu	37	chr1	158517227	158517227	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtggcaaggatagcagcGtaggatgccaccacaacaca	12	10	0	0			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:158517227G>A	ENST00000302617.3	-	1	668	c.669C>T	c.(667-669)taC>taT	p.Y223Y		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGATAGCAGCGTAGGATGCCA	0.537													False	0	False	1:158517227	0	A	158517227	G	A	158517227	2	1	122	1	0	0	0	0	0	0	0	1	11281	1140	40	1		1	OR6Y1	1	158517227	Silent	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	5845712	158517227	90733394	4	31982											
PROX1	5629	broad.mit.edu	37	chr1	214170479	214170479	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcagtctgtgagtcccCgagaaagttacagagaaaac	10	12	1	3			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:214170479C>T	ENST00000366958.4	+	2	1209	c.601C>T	c.(601-603)Cga>Tga	p.R201*	PROX1_ENST00000261454.4_Nonsense_Mutation_p.R201*|PROX1_ENST00000435016.1_Nonsense_Mutation_p.R201*|PROX1_ENST00000498508.2_Nonsense_Mutation_p.R201*	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	201					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TGTGAGTCCCCGAGAAAGTTA	0.502													False	0	True	1:214170479	0	T	214170479	C	T	214170479	4	4	122	1	0	0	0	0	0	1	0	0	12636	644	23	1	603	1	PROX1	1	214170479	Nonsense_Mutation	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08	55653252	214170479	35080142	5	31983											
OBSCN	84033	broad.mit.edu	37	chr1	228475547	228475547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgacaaatacagcctaCgccaggagggtgccatgctg	13	11	0	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr1:228475547C>T	ENST00000570156.2	+	41	11058	c.10984C>T	c.(10984-10986)Cgc>Tgc	p.R3662C	OBSCN_ENST00000366707.4_Missense_Mutation_p.R352C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3233C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3233C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2080C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R352C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2695	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATACAGCCTACGCCAGGAGGG	0.622													False	0	False	1:228475547	0	T	228475547	C	T	228475547	3	4	122	1	0	0	0	0	1	0	0	0	10880	536	19	1	9835	1	OBSCN	1	228475547	Missense_Mutation	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08	14305068	228475547	20775074	6	31984											
ATAD2B	54454	broad.mit.edu	37	chr2	23977530	23977530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttaccttcaatctctcaCgatcaactataagaggaggc	7	11	4	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:23977530C>T	ENST00000238789.5	-	26	4536	c.4193G>A	c.(4192-4194)cGt>cAt	p.R1398H	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1398							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAATCTCTCACGATCAACTAT	0.403													False	0	False	2:23977530	0	T	23977530	C	T	23977530	3	4	122	1	0	0	0	0	1	0	0	0	1076	536	19	1	195	1	ATAD2B	2	23977530	Missense_Mutation	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08		23977530	219221843	7	31985											
CCDC85A	114800	broad.mit.edu	37	chr2	56419682	56419682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttcctggatgatgaccGgcagaaaggcaagagggtgt	15	7	0	4			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:56419682G>A	ENST00000407595.2	+	2	849	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	116										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GATGATGACCGGCAGAAAGGC	0.527													False	0	False	2:56419682	0	A	56419682	G	A	56419682	3	1	122	1	0	0	0	0	1	0	0	0	2880	1116	39	1	353	1	CCDC85A	2	56419682	Missense_Mutation	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	32442152	56419682	186779691	8	31986											
CCDC74B	91409	broad.mit.edu	37	chr2	130897920	130897920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatacaggcagctcctgcGttagaggcctctgctttctc	9	15	2	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:130897920G>A	ENST00000392984.3	-	4	1757	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	CCDC74B_ENST00000310463.6_Silent_p.N236N|CCDC74B_ENST00000409943.3_Silent_p.N170N			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	236										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CAGCTCCTGCGTTAGAGGCCT	0.627													False	0	False	2:130897920	0	A	130897920	G	A	130897920	2	1	122	1	0	0	0	0	0	0	0	1	2869	1136	40	1		1	CCDC74B	2	130897920	Silent	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	74478238	130897920	112301453	9	31987											
TTN	7273	broad.mit.edu	37	chr2	179594553	179594553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggctgttatttcattccCgtctagataccaagacactc	6	11	2	2			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:179594553C>T	ENST00000589042.1	-	63	18651	c.18427G>A	c.(18427-18429)Ggg>Agg	p.G6143R	TTN_ENST00000342992.6_Missense_Mutation_p.G4899R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5826R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5826	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCATTCCCGTCTAGATAC	0.433													False	0	True	2:179594553	0	T	179594553	C	T	179594553	3	4	122	1	0	0	0	0	1	0	0	0	16819	652	23	1	86302	1	TTN	2	179594553	Missense_Mutation	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08	48696633	179594553	63604820	10	31988											
ZSWIM2	151112	broad.mit.edu	37	chr2	187698677	187698677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatggatactgtacctcaCgaaatgtaaacgtgtgggaa	11	6	1	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:187698677C>T	ENST00000295131.2	-	6	863	c.824G>A	c.(823-825)cGt>cAt	p.R275H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	275					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTGTACCTCACGAAATGTAAA	0.363													False	0	False	2:187698677	0	T	187698677	C	T	187698677	3	4	122	1	0	0	0	0	1	0	0	0	18323	536	19	1	1093	1	ZSWIM2	2	187698677	Missense_Mutation	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08	8104124	187698677	55500696	11	31989											
USP40	55230	broad.mit.edu	37	chr2	234433205	234433205	+	Frame_Shift_Del	DEL	T	T	-													tttcacacagtgtcagttcaTcccctagaaagagatcacca							TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr2:234433205delT	ENST00000251722.6	-	15	1928	c.1811delA	c.(1810-1812)gatfs	p.D604fs	USP40_ENST00000450966.1_Frame_Shift_Del_p.D616fs|USP40_ENST00000427112.2_Frame_Shift_Del_p.D604fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	604					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TGTCAGTTCATCCCCTAGAAA	0.373													False	1	True	2:234433205	0	-	234433205	T	-	234433205	7	5	122	1	0	1	0	1	0	0	0	0	17156	1435	50	0	1968	0	USP40	2	234433205	Frame_Shift_Del	DEL	T	TCGA-M8-A5N4-01A-11D-A26I-08	46734528	234433205	8766168	12	31990											
MED28	80306	broad.mit.edu	37	chr4	17616437	17616438	+	Splice_Site	INS	-	-	C													gttggagtcatctttcgaggINStaatataagacatgggcgtc							TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:17616437_17616438insC	ENST00000237380.6	+	1	183		c.e1+1			NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						ATCTTTCGAGGTAATATAAGAC	0.54													False	0	False	4:17616437	0	C	17616438	-	C	17616437	8	5	122	1	0	1	1	0	0	0	1	0	9513	1275	44	0	162	0	MED28	4	17616437	Splice_Site	INS	-	TCGA-M8-A5N4-01A-11D-A26I-08		17616437	173537839	13	31991	375	2									
MED28	80306	broad.mit.edu	37	chr4	17616438	17616439	+	Splice_Site	INS	-	-	TGCTTTGCATCTCTGGTGAGTCAGGACTATGTCAATGGCACCGATCAGGAAG													ttggagtcatctttcgaggtINSaatataagacatgggcgtct							TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:17616438_17616439insTGCTTTGCATCTCTGGTGAGTCAGGACTATGTCAATGGCACCGATCAGGAAG	ENST00000237380.6	+	1	183		c.e1+2			NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						TCTTTCGAGGTAATATAAGACA	0.54													False	0	False	4:17616438	0	TGCTTTGCATCTCTGGTGAGTCAGGACTATGTCAATGGCACCGATCAGGAAG	17616439	-	TGCTTTGCATCTCTGGTGAGTCAGGACTATGTCAATGGCACCGATCAGGAAG	17616438	8	5	122	1	0	1	1	0	0	0	1	0	9513	1652	57	0	163	0	MED28	4	17616438	Splice_Site	INS	-	TCGA-M8-A5N4-01A-11D-A26I-08	1	17616438	173537838	14	31992	375	2									
CORIN	10699	broad.mit.edu	37	chr4	47682234	47682234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatggcgatgcagcgcccGtccccgcagcgatgctctgt	12	16	1	0			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:47682234G>A	ENST00000273857.4	-	8	1055	c.1056C>T	c.(1054-1056)gaC>gaT	p.D352D	CORIN_ENST00000504584.1_Intron|CORIN_ENST00000505909.1_Intron|CORIN_ENST00000508498.1_Silent_p.D213D|CORIN_ENST00000502252.1_Silent_p.D285D	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	352	LDL-receptor class A 3.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TGCAGCGCCCGTCCCCGCAGC	0.532													False	0	True	4:47682234	0	A	47682234	G	A	47682234	2	1	122	1	0	0	0	0	0	0	0	1	3775	1136	40	1		1	CORIN	4	47682234	Silent	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	30065796	47682234	143472042	15	31993											
TBCK	93627	broad.mit.edu	37	chr4	107168383	107168383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggcaggtttggtaaaggGggtatataaaggtgatacct	14	4	0	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:107168383G>A	ENST00000273980.5	-	11	1291	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	TBCK_ENST00000394708.2_Missense_Mutation_p.P282S|TBCK_ENST00000394706.3_Missense_Mutation_p.P243S|TBCK_ENST00000361687.4_Missense_Mutation_p.P219S|TBCK_ENST00000432496.2_Missense_Mutation_p.P282S			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase							intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TTGGTAAAGGGGGTATATAAA	0.378													False	0	True	4:107168383	0	A	107168383	G	A	107168383	3	1	122	1	0	0	0	0	1	0	0	0	15718	1232	43	2	1905	2	TBCK	4	107168383	Missense_Mutation	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	59486149	107168383	83985893	16	31994											
WDR17	116966	broad.mit.edu	37	chr4	177100716	177100716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttagggactggaatacgaCtcaatccattctgatagaag	9	8	2	2			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr4:177100716C>T	ENST00000393643.2	+	30	4135	c.3883C>T	c.(3883-3885)Ctc>Ttc	p.L1295F	WDR17_ENST00000280190.4_Missense_Mutation_p.L1319F|WDR17_ENST00000507824.2_Missense_Mutation_p.L1294F|WDR17_ENST00000508596.1_Missense_Mutation_p.L1280F	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1319			A -> T (in dbSNP:rs11736872).							breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGGAATACGACTCAATCCATT	0.368													False	0	False	4:177100716	0	T	177100716	C	T	177100716	3	4	122	1	0	0	0	0	1	0	0	0	17361	565	20	2	4073	2	WDR17	4	177100716	Missense_Mutation	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08	69932333	177100716	14053560	17	31995											
ADAMTS12	81792	broad.mit.edu	37	chr5	33546294	33546294	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctcctgaactccacctccaCaggacctggagcactgatac	7	16	1	2			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:33546294C>G	ENST00000504830.1	-	22	4651	c.4316G>C	c.(4315-4317)tGt>tCt	p.C1439S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C1354S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1439	TSP type-1 7.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCACCTCCACAGGACCTGGA	0.468										HNSCC(64;0.19)			False	0	False	5:33546294	0	G	33546294	C	G	33546294	3	3	122	1	0	0	0	0	1	0	0	0	257	478	17	5	480	5	ADAMTS12	5	33546294	Missense_Mutation	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08		33546294	147368966	18	31996											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	122	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-M8-A5N4-01A-11D-A26I-08	45064150	78610444	102304816	19	31997											
TRPC7	57113	broad.mit.edu	37	chr5	135692812	135692812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgtgacctctaggtgctcGttgcccacggccagctgcag	12	15	1	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:135692812G>A	ENST00000513104.1	-	2	546	c.264C>T	c.(262-264)aaC>aaT	p.N88N	TRPC7_ENST00000426057.2_Silent_p.N88N|TRPC7_ENST00000355180.3_Silent_p.N88N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	88					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTAGGTGCTCGTTGCCCACGG	0.607													False	0	False	5:135692812	0	A	135692812	G	A	135692812	2	1	122	1	0	0	0	0	0	0	0	1	16667	1136	40	1		1	TRPC7	5	135692812	Silent	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	57082368	135692812	45222448	20	31998											
PCDHB8	0	broad.mit.edu	37	chr5	140559743	140559743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctcggtgctcctgttcGtggcggtgctgctgtgtagg	15	10	2	0	rs142723933	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr5:140559743G>A	ENST00000239444.2	+	1	2373	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		710					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGTTCGTGGCGGTGCT	0.677													False	0	False	5:140559743	0	A	140559743	G	A	140559743	3	1	122	1	0	0	0	0	1	0	0	0	11616	1145	40	1	2130	1	PCDHB8	5	140559743	Missense_Mutation	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	4866931	140559743	40355517	21	31999											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	122	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-M8-A5N4-01A-11D-A26I-08		7393450	163721617	22	32000											
FAM8A1	51439	broad.mit.edu	37	chr6	17600910	17600910	+	Frame_Shift_Del	DEL	G	G	-													ggtgcagagctgcaggagcaGgcgggctgcgaggcgcccga							TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:17600910delG	ENST00000259963.3	+	1	325	c.270delG	c.(268-270)cagfs	p.Q90fs		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	90						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TGCAGGAGCAGGCGGGCTGCG	0.741													False	2	False	6:17600910	0	-	17600910	G	-	17600910	7	5	122	1	0	1	0	1	0	0	0	0	5689	991	35	0	272	0	FAM8A1	6	17600910	Frame_Shift_Del	DEL	G	TCGA-M8-A5N4-01A-11D-A26I-08	10207460	17600910	153514157	23	32001											
ATF6B	1388	broad.mit.edu	37	chr6	32093957	32093957	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcaaatgaggatgttgggtCatctcccaggagacacagtg	12	8	3	2			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:32093957C>T	ENST00000375201.4	-	5	451	c.406G>A	c.(406-408)Gac>Aac	p.D136N	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375203.3_Missense_Mutation_p.D139N			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	139					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GATGTTGGGTCATCTCCCAGG	0.552													False	0	False	6:32093957	0	T	32093957	C	T	32093957	3	4	122	1	0	0	0	0	1	0	0	0	1089	826	29	2	1752	2	ATF6B	6	32093957	Missense_Mutation	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08	14493047	32093957	139021110	24	32002											
RIMS1	0	broad.mit.edu	37	chr6	72806839	72806839	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agttctgtgcgcgctgcggaGgccgcgtgtctctacggtca	15	12	3	0			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:72806839G>C	ENST00000264839.7	+	3	433	c.433G>C	c.(433-435)Ggc>Cgc	p.G145R	RIMS1_ENST00000520567.1_Missense_Mutation_p.G145R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G145R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G145R|RIMS1_ENST00000521978.1_Missense_Mutation_p.G145R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G145R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G145R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G145R			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	145	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCGCTGCGGAGGCCGCGTGTC	0.483													False	0	False	6:72806839	0	C	72806839	G	C	72806839	3	2	122	1	0	0	0	0	1	0	0	0	13446	1000	35	5	443	5	RIMS1	6	72806839	Missense_Mutation	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	40712882	72806839	98308228	25	32003											
BCLAF1	9774	broad.mit.edu	37	chr6	136597648	136597649	+	Splice_Site	INS	-	-	TTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCAGGATAAAAC													gactcttcatctgtgaacctINSgcgaataagcaaagaagagg							TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr6:136597648_136597649insTTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCAGGATAAAAC	ENST00000531224.1	-	5	1269		c.e5-2		BCLAF1_ENST00000392348.2_Splice_Site|BCLAF1_ENST00000527759.1_Splice_Site|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Splice_Site|BCLAF1_ENST00000353331.4_Splice_Site	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTGTGAACCTGCGAATAAGCA	0.441													False	0	False	6:136597648	0	TTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCAGGATAAAAC	136597649	-	TTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCAGGATAAAAC	136597648	8	5	122	1	0	1	1	0	0	0	1	0	1387	1594	55	0	1783	0	BCLAF1	6	136597648	Splice_Site	INS	-	TCGA-M8-A5N4-01A-11D-A26I-08	63790809	136597648	34517419	26	32004											
SLC29A4	222962	broad.mit.edu	37	chr7	5330780	5330780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatcgtgtttgacatgagCctcacctacatcttggtggc	9	12	2	2			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:5330780C>T	ENST00000396872.3	+	4	488	c.327C>T	c.(325-327)agC>agT	p.S109S	SLC29A4_ENST00000406453.3_Silent_p.S109S|SLC29A4_ENST00000297195.4_Silent_p.S109S			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TTGACATGAGCCTCACCTACA	0.632													False	0	False	7:5330780	0	T	5330780	C	T	5330780	2	4	122	1	0	0	0	0	0	0	0	1	14617	738	26	2		2	SLC29A4	7	5330780	Silent	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08		5330780	153807883	27	32005											
ICA1	3382	broad.mit.edu	37	chr7	8258081	8258081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atctgagatggcccgatgccGaaaagtctccacttcttggt	10	11	3	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:8258081G>A	ENST00000402384.3	-	6	699	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	ICA1_ENST00000265577.7_Missense_Mutation_p.R144W|ICA1_ENST00000401396.1_Missense_Mutation_p.R133W|ICA1_ENST00000396675.3_Missense_Mutation_p.R145W|ICA1_ENST00000422063.2_Missense_Mutation_p.R145W|ICA1_ENST00000476942.1_5'UTR|ICA1_ENST00000406470.2_Missense_Mutation_p.R145W|ICA1_ENST00000407906.1_Missense_Mutation_p.R145W			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	145	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GCCCGATGCCGAAAAGTCTCC	0.483													False	0	True	7:8258081	0	A	8258081	G	A	8258081	3	1	122	1	0	0	0	0	1	0	0	0	7527	1057	37	1	1054	1	ICA1	7	8258081	Missense_Mutation	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	2927301	8258081	150880582	28	32006											
SPAM1	0	broad.mit.edu	37	chr7	123593723	123593723	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttctgattccatgttgCttgactctgaatttcagagc	7	10	3	4			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:123593723C>T	ENST00000340011.5	+	3	456	c.99C>T	c.(97-99)tgC>tgT	p.C33C	SPAM1_ENST00000460182.1_Silent_p.C33C|SPAM1_ENST00000439500.1_Silent_p.C33C|SPAM1_ENST00000402183.2_Silent_p.C33C|SPAM1_ENST00000223028.7_Silent_p.C33C	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	33					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TTCCATGTTGCTTGACTCTGA	0.413													False	0	False	7:123593723	0	T	123593723	C	T	123593723	2	4	122	1	0	0	0	0	0	0	0	1	15068	805	28	2		2	SPAM1	7	123593723	Silent	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08	115335642	123593723	35544940	29	32007											
SLC13A4	26266	broad.mit.edu	37	chr7	135392895	135392895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccggccatcaagaccatgCgcagagcaatgcgcttatgc	10	14	1	2			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:135392895C>T	ENST00000354042.4	-	3	1021	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	111						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CAAGACCATGCGCAGAGCAAT	0.592													False	0	False	7:135392895	0	T	135392895	C	T	135392895	3	4	122	1	0	0	0	0	1	0	0	0	14475	768	27	1	1604	1	SLC13A4	7	135392895	Missense_Mutation	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08	11799172	135392895	23745768	30	32008											
C7orf33	202865	broad.mit.edu	37	chr7	148288176	148288176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgggtccacgttaggggCggtccaggtcaatttaactt	13	8	1	0			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr7:148288176C>T	ENST00000307003.2	+	1	520	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	53								p.G53G(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACGTTAGGGGCGGTCCAGGTC	0.512													False	0	True	7:148288176	0	T	148288176	C	T	148288176	2	4	122	1	0	0	0	0	0	0	0	1	2407	755	27	1		1	C7orf33	7	148288176	Silent	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08	12895281	148288176	10850487	31	32009											
FRMPD1	22844	broad.mit.edu	37	chr9	37708488	37708488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcctgggaacgagcagtcGatattctcaggtactaaatg	10	8	1	0			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:37708488G>A	ENST00000539465.1	+	4	945	c.352G>A	c.(352-354)Gat>Aat	p.D118N	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D118N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	118	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACGAGCAGTCGATATTCTCAG	0.463													False	0	False	9:37708488	0	A	37708488	G	A	37708488	3	1	122	1	0	0	0	0	1	0	0	0	6099	1058	37	1	362	1	FRMPD1	9	37708488	Missense_Mutation	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08		37708488	103504943	32	32010											
GSN	2934	broad.mit.edu	37	chr9	124062285	124062285	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgcccgaggcgcgggTgagtgcccggggggccccgg	23	13	0	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000412819.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373823.3_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697													False	0	True	9:124062285	0	G	124062285	T	G	124062285	5	3	122	1	0	0	0	0	0	0	1	0	6872	1710	59	4	148	4	GSN	9	124062285	Splice_Site	SNP	T	TCGA-M8-A5N4-01A-11D-A26I-08	86353797	124062285	17151146	33	32011											
UBAC1	10422	broad.mit.edu	37	chr9	138836942	138836944	+	In_Frame_Del	DEL	CCT	CCT	-													ttccgtcagctcatctctggCctcctcatcggtggcgctgg					rs66767056		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr9:138836942_138836944delCCT	ENST00000371756.3	-	7	1023_1025	c.806_808delAGG	c.(805-810)gaggcc>gcc	p.E269del	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	269				Missing (in Ref. 1; AAD51084).		Golgi apparatus|plasma membrane	protein binding	p.E269delE(1)|p.E269fs*6(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TCATCTCTGGCCTCCTCATCGGT	0.621													False	2	False	9:138836942	0	-	138836944	CCT	-	138836942	7	5	122	1	0	1	0	1	0	0	0	0	16918	739	26	0	425	0	UBAC1	9	138836942	In_Frame_Del	DEL	CCT	TCGA-M8-A5N4-01A-11D-A26I-08	14774657	138836942	2376489	34	32012											
SLIT1	6585	broad.mit.edu	37	chr10	98763971	98763971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaattgcccatcgttgatcGtctcagcactggaggaagag	13	9	1	2			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr10:98763971G>A	ENST00000266058.4	-	34	3964	c.3719C>T	c.(3718-3720)aCg>aTg	p.T1240M	SLIT1_ENST00000371070.4_Missense_Mutation_p.T1240M|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1240	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ATCGTTGATCGTCTCAGCACT	0.567													False	0	False	10:98763971	0	A	98763971	G	A	98763971	3	1	122	1	0	0	0	0	1	0	0	0	14819	1145	40	1	901	1	SLIT1	10	98763971	Missense_Mutation	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08		98763971	36770776	35	32013											
DNHD1	144132	broad.mit.edu	37	chr11	6592936	6592936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggctacaggtcctacatgCggagtgggacccaatagctg	14	11	0	0			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:6592936C>T	ENST00000254579.6	+	43	14546	c.13982C>T	c.(13981-13983)gCg>gTg	p.A4661V	DNHD1_ENST00000527990.2_Missense_Mutation_p.A4661V	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4661					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTCCTACATGCGGAGTGGGAC	0.627													False	0	False	11:6592936	0	T	6592936	C	T	6592936	3	4	122	1	0	0	0	0	1	0	0	0	4698	768	27	1	14153	1	DNHD1	11	6592936	Missense_Mutation	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08		6592936	128413580	36	32014											
OR5D14	219436	broad.mit.edu	37	chr11	55563781	55563781	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcctcccacctgacttctatCaccatcttccatgggaccat	5	17	3	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:55563781C>T	ENST00000335605.1	+	1	750	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGACTTCTATCACCATCTTCC	0.453													False	0	False	11:55563781	0	T	55563781	C	T	55563781	2	4	122	1	0	0	0	0	0	0	0	1	11223	816	29	2		2	OR5D14	11	55563781	Silent	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08	48970845	55563781	79442735	37	32015											
NFRKB	4798	broad.mit.edu	37	chr11	129753985	129753985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggctgatgtttccgcttctCgtggtgcttctttaacatta	9	9	2	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr11:129753985C>T	ENST00000446488.3	-	7	899	c.796G>A	c.(796-798)Gag>Aag	p.E266K	NFRKB_ENST00000524746.1_Missense_Mutation_p.E266K|NFRKB_ENST00000304521.5_Missense_Mutation_p.E266K|NFRKB_ENST00000524794.1_Missense_Mutation_p.E291K	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	266					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCCGCTTCTCGTGGTGCTTC	0.473													False	0	False	11:129753985	0	T	129753985	C	T	129753985	3	4	122	1	0	0	0	0	1	0	0	0	10452	893	31	1	3183	1	NFRKB	11	129753985	Missense_Mutation	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08	74190204	129753985	5252531	38	32016											
ABCC9	10060	broad.mit.edu	37	chr12	21968727	21968727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgatgtaagccttgacGtgcttaagaacaggtttcag	12	6	1	3			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:21968727G>A	ENST00000261200.4	-	32	3992	c.3993C>T	c.(3991-3993)caC>caT	p.H1331H	ABCC9_ENST00000261201.4_Silent_p.H1331H|ABCC9_ENST00000345162.2_Silent_p.H1295H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1331	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAGCCTTGACGTGCTTAAGAA	0.383													False	0	False	12:21968727	0	A	21968727	G	A	21968727	2	1	122	1	0	0	0	0	0	0	0	1	59	1136	40	1		1	ABCC9	12	21968727	Silent	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08		21968727	111883168	39	32017											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	122	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08	3429557	25398284	108453611	40	32018											
FZD10	11211	broad.mit.edu	37	chr12	130648005	130648005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctgttccggccgcagcGgccccacagcgcgcaggagc	15	18	0	0			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr12:130648005G>A	ENST00000229030.4	+	1	1002	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	FZD10_ENST00000539839.1_Silent_p.A140A			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	173					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGGCCGCAGCGGCCCCACAGC	0.726													False	0	False	12:130648005	0	A	130648005	G	A	130648005	3	1	122	1	0	0	0	0	1	0	0	0	6171	1116	39	1	520	1	FZD10	12	130648005	Missense_Mutation	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	105249721	130648005	3203890	41	32019											
LRP10	26020	broad.mit.edu	37	chr14	23346384	23346384	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccctagatggtggcacagGtccagcccgtgagggcgggg	19	11	0	2			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr14:23346384G>T	ENST00000359591.4	+	7	2481	c.1790G>T	c.(1789-1791)gGt>gTt	p.G597V	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	597					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGTGGCACAGGTCCAGCCCGT	0.672													False	0	False	14:23346384	0	T	23346384	G	T	23346384	3	4	122	1	0	0	0	0	1	0	0	0	9014	1261	44	3	1816	3	LRP10	14	23346384	Missense_Mutation	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08		23346384	84003156	42	32020											
TTBK2	146057	broad.mit.edu	37	chr15	43044234	43044234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgaggaaagaactgagaCgaagttgagctattgacctg	14	7	0	4			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:43044234C>T	ENST00000267890.6	-	14	3318	c.3210G>A	c.(3208-3210)tcG>tcA	p.S1070S		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1070					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGAACTGAGACGAAGTTGAGC	0.493													False	0	False	15:43044234	0	T	43044234	C	T	43044234	2	4	122	1	0	0	0	0	0	0	0	1	16761	523	19	1		1	TTBK2	15	43044234	Silent	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08		43044234	59487158	43	32021											
EFTUD1	79631	broad.mit.edu	37	chr15	82551447	82551447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgcctgctaggcggctGgagatgattccattgctaga	12	10	0	3			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr15:82551447G>A	ENST00000268206.7	-	3	309	c.141C>T	c.(139-141)tcC>tcT	p.S47S	EFTUD1_ENST00000359445.3_Intron	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	47					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTAGGCGGCTGGAGATGATTC	0.343													False	0	False	15:82551447	0	A	82551447	G	A	82551447	2	1	122	1	0	0	0	0	0	0	0	1	4990	1335	47	2		2	EFTUD1	15	82551447	Silent	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	39507213	82551447	19979945	44	32022											
TAOK2	9344	broad.mit.edu	37	chr16	29990391	29990391	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctcccacaacatgatccataGgtacaagcagcaccggcagt	8	14	0	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:29990391G>C	ENST00000308893.4	+	6	1492	c.449G>C	c.(448-450)aGg>aCg	p.R150T	TAOK2_ENST00000279394.3_Splice_Site_p.R150T|TAOK2_ENST00000543033.1_Splice_Site_p.R150T	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	150	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATGATCCATAGGTACAAGCAG	0.582													False	0	False	16:29990391	0	C	29990391	G	C	29990391	5	2	122	1	0	0	0	0	0	0	1	0	15630	1014	35	5	467	5	TAOK2	16	29990391	Splice_Site	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08		29990391	60364362	45	32023											
HPR	3250	broad.mit.edu	37	chr16	72110604	72110604	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agggcgtgtgggttacgtgtCtggctggggacaaagtgaca	18	6	1	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr16:72110604C>T	ENST00000540303.2	+	5	703	c.671C>T	c.(670-672)tCt>tTt	p.S224F	HPR_ENST00000356967.5_Missense_Mutation_p.S224F|HPR_ENST00000228226.8_Missense_Mutation_p.S261F|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	224	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GGTTACGTGTCTGGCTGGGGA	0.453													False	0	True	16:72110604	0	T	72110604	C	T	72110604	3	4	122	1	0	0	0	0	1	0	0	0	7384	913	32	2	689	2	HPR	16	72110604	Missense_Mutation	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08	42120213	72110604	18244149	46	32024											
TP53	7157	broad.mit.edu	37	chr17	7577118	7577118	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcccaggacaggcacaaaCacgcacctcaaagctgttcc	7	16	2	0			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:7577118C>A	ENST00000420246.2	-	8	952	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V274F|TP53_ENST00000269305.4_Missense_Mutation_p.V274F|TP53_ENST00000445888.2_Missense_Mutation_p.V274F|TP53_ENST00000359597.4_Missense_Mutation_p.V274F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGCACAAACACGCACCTCA	0.552		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)			False	0	True	17:7577118	0	A	7577118	C	A	7577118	3	1	122	1	0	0	0	0	1	0	0	0	16464	478	17	3	466	3	TP53	17	7577118	Missense_Mutation	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08		7577118	73618092	47	32025											
RASL10B	91608	broad.mit.edu	37	chr17	34062239	34062239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggccgtgctgggggcGcgaggtgtgggcaagagtgc	23	8	0	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr17:34062239G>A	ENST00000268864.3	+	2	413	c.36G>A	c.(34-36)gcG>gcA	p.A12A		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	12	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCTGGGGGCGCGAGGTGTGG	0.682													False	0	False	17:34062239	0	A	34062239	G	A	34062239	2	1	122	1	0	0	0	0	0	0	0	1	13159	1074	38	1		1	RASL10B	17	34062239	Silent	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	26485121	34062239	47132971	48	32026											
OR7D4	125958	broad.mit.edu	37	chr19	9325150	9325150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcagatggccacaaaccGgtcataggccatcacggcca	12	13	2	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:9325150G>A	ENST00000308682.2	-	1	392	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GCCACAAACCGGTCATAGGCC	0.502													False	0	False	19:9325150	0	A	9325150	G	A	9325150	3	1	122	1	0	0	0	0	1	0	0	0	11288	1115	39	1	578	1	OR7D4	19	9325150	Missense_Mutation	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08		9325150	49803833	49	32027											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	122	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-M8-A5N4-01A-11D-A26I-08	4758517	14083667	45045316	50	32028											
SIPA1L3	23094	broad.mit.edu	37	chr19	38631993	38631993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccactccaaccactcccGgccatgcccagtccctgagc	9	20	0	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr19:38631993G>A	ENST00000222345.6	+	11	3822	c.3313G>A	c.(3313-3315)Ggc>Agc	p.G1105S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1105					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AACCACTCCCGGCCATGCCCA	0.677													False	0	True	19:38631993	0	A	38631993	G	A	38631993	3	1	122	1	0	0	0	0	1	0	0	0	14412	1116	39	1	3347	1	SIPA1L3	19	38631993	Missense_Mutation	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	24548326	38631993	20496990	51	32029											
FERMT1	55612	broad.mit.edu	37	chr20	6078257	6078257	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctggcttgctcatagagttGgtttattcggacagcatcat	10	9	2	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:6078257G>C	ENST00000217289.4	-	7	1659	c.871C>G	c.(871-873)Caa>Gaa	p.Q291E	FERMT1_ENST00000536936.1_Missense_Mutation_p.Q34E	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	291	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCATAGAGTTGGTTTATTCGG	0.403													False	0	False	20:6078257	0	C	6078257	G	C	6078257	3	2	122	1	0	0	0	0	1	0	0	0	5857	1357	47	5	1198	5	FERMT1	20	6078257	Missense_Mutation	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08		6078257	56947263	52	32030											
RIMS4	140730	broad.mit.edu	37	chr20	43400046	43400046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcccccttcagcctccGgctgtccccttctgggcaaa	10	17	2	0			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:43400046G>A	ENST00000372851.3	-	2	172	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	RIMS4_ENST00000541604.2_Missense_Mutation_p.R37W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	36					exocytosis|neurotransmitter transport	cell junction|synapse		p.R36W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TTCAGCCTCCGGCTGTCCCCT	0.622													False	0	False	20:43400046	0	A	43400046	G	A	43400046	3	1	122	1	0	0	0	0	1	0	0	0	13449	1115	39	1	723	1	RIMS4	20	43400046	Missense_Mutation	SNP	G	TCGA-M8-A5N4-01A-11D-A26I-08	37321789	43400046	19625474	53	32031											
NCOA3	8202	broad.mit.edu	37	chr20	46279830	46279839	+	Frame_Shift_Del	DEL	GCAGCAACAG	GCAGCAACAG	-													atgatgcagcagcagcagcaGcagcaacagcagcagcagca					rs72181894	by1000genomes	TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	GCAGCAACAG	GCAGCAACAG	-	-	GCAGCAACAG	GCAGCAACAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr20:46279830_46279839delGCAGCAACAG	ENST00000372004.3	+	20	3960_3969	c.3744_3753delGCAGCAACAG	c.(3742-3753)cagcagcaacagfs	p.QQQQ1268fs	NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQQQ1272fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQQQ1198fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQQQ1263fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1272	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1252Q(3)|p.Q1255delQ(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagcagcagcagc	0.543													False	1	True	20:46279830	0	-	46279839	GCAGCAACAG	-	46279830	7	5	122	1	0	1	0	1	0	0	0	0	10298	962	34	0	3856	0	NCOA3	20	46279830	Frame_Shift_Del	DEL	GCAGCAACAG	TCGA-M8-A5N4-01A-11D-A26I-08	2879784	46279830	16745690	54	32032											
RFPL3	10738	broad.mit.edu	37	chr22	32756681	32756681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtctatacattcaggagCgtctctgctgaggagccact	10	11	3	1			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chr22:32756681C>T	ENST00000249007.4	+	2	1021	c.816C>T	c.(814-816)agC>agT	p.S272S	RFPL3S_ENST00000461833.1_5'UTR|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Silent_p.S243S|RFPL3_ENST00000382088.3_Silent_p.S243S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	272	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CATTCAGGAGCGTCTCTGCTG	0.478													False	0	False	22:32756681	0	T	32756681	C	T	32756681	2	4	122	1	0	0	0	0	0	0	0	1	13334	767	27	1		1	RFPL3	22	32756681	Silent	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08		32756681	18547885	55	32033											
P2RY4	5030	broad.mit.edu	37	chrX	69478725	69478725	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagacagcaaagacagtcagCaccacagctatggtgcggag	12	11	1	2			TCGA-M8-A5N4-01A-11D-A26I-08	TCGA-M8-A5N4-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac6d223e-26a4-4b06-b260-bb1988f1f808	483217e3-6f76-47b0-ae68-da24243056c0	g.chrX:69478725C>A	ENST00000374519.2	-	1	929	c.750G>T	c.(748-750)gtG>gtT	p.V250V		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	250					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						AGACAGTCAGCACCACAGCTA	0.557													False	0	False	X:69478725	0	A	69478725	C	A	69478725	2	1	122	1	0	0	0	0	0	0	0	1	11421	697	25	3		3	P2RY4	23	69478725	Silent	SNP	C	TCGA-M8-A5N4-01A-11D-A26I-08		69478725	85791835	56	32034											
UBR4	23352	broad.mit.edu	37	chr1	19420503	19420503	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctgcattttctccacctctCcaaaggaaaggtacgggatg	9	11	3	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19420503C>G	ENST00000375267.2	-	95	13880	c.13877G>C	c.(13876-13878)gGa>gCa	p.G4626A	UBR4_ENST00000543981.1_Missense_Mutation_p.G290A|UBR4_ENST00000429347.2_Missense_Mutation_p.G149A|UBR4_ENST00000375217.2_Missense_Mutation_p.G4619A|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375224.1_Missense_Mutation_p.G333A|UBR4_ENST00000375226.2_Missense_Mutation_p.G4602A|UBR4_ENST00000375254.3_Missense_Mutation_p.G4626A			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4626					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCCACCTCTCCAAAGGAAAG	0.468													False	0	False	1:19420503	0	G	19420503	C	G	19420503	3	3	123	1	0	0	0	0	1	0	0	0	16988	855	30	5	1722	5	UBR4	1	19420503	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		19420503	229830118	1	32035											
UBR4	23352	broad.mit.edu	37	chr1	19464627	19464627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacacttcctggtccagccGgatgcccctcagctgtagca	10	15	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19464627G>A	ENST00000375267.2	-	60	8783	c.8780C>T	c.(8779-8781)cCg>cTg	p.P2927L	UBR4_ENST00000375217.2_Missense_Mutation_p.P2920L|UBR4_ENST00000375226.2_Missense_Mutation_p.P2903L|UBR4_ENST00000375254.3_Missense_Mutation_p.P2927L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2927					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTCCAGCCGGATGCCCCTC	0.542													False	0	False	1:19464627	0	A	19464627	G	A	19464627	3	1	123	1	0	0	0	0	1	0	0	0	16988	1116	39	1	6959	1	UBR4	1	19464627	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	44124	19464627	229785994	2	32036											
HSPG2	3339	broad.mit.edu	37	chr1	22186350	22186350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtcgctgctgggtgccGctgggcacaggccgcccatc	15	14	0	1	rs138980184	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:22186350G>A	ENST00000374695.3	-	41	5239	c.5160C>T	c.(5158-5160)agC>agT	p.S1720S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1720	Ig-like C2-type 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGGGTGCCGCTGGGCACAG	0.662													False	0	False	1:22186350	0	A	22186350	G	A	22186350	2	1	123	1	0	0	0	0	0	0	0	1	7480	1078	38	1		1	HSPG2	1	22186350	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2721723	22186350	227064271	3	32037											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	123	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-OE-A75W-01A-12D-A32N-08	801035	22987385	226263236	4	32038											
KDM1A	23028	broad.mit.edu	37	chr1	23376891	23376891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgttaggtgtggagggcGcagctttccagagccgactt	14	10	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23376891G>A	ENST00000400181.4	+	4	693	c.589G>A	c.(589-591)Gca>Aca	p.A197T	KDM1A_ENST00000542151.1_Missense_Mutation_p.A197T|KDM1A_ENST00000356634.3_Missense_Mutation_p.A177T|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	177	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGTGGAGGGCGCAGCTTTCCA	0.468													False	0	False	1:23376891	0	A	23376891	G	A	23376891	3	1	123	1	0	0	0	0	1	0	0	0	8172	1087	38	1	603	1	KDM1A	1	23376891	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	389506	23376891	225873730	5	32039											
LUZP1	7798	broad.mit.edu	37	chr1	23418504	23418504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgatgatggctctagaccGcaacgcctctctggggctaa	11	11	2	3	rs146031719	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23418504G>A	ENST00000302291.4	-	4	3052	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	751						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCTAGACCGCAACGCCTCT	0.478													False	0	False	1:23418504	0	A	23418504	G	A	23418504	3	1	123	1	0	0	0	0	1	0	0	0	9148	1086	38	1	987	1	LUZP1	1	23418504	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	41613	23418504	225832117	6	32040											
LUZP1	7798	broad.mit.edu	37	chr1	23420152	23420159	+	Frame_Shift_Del	DEL	ATTCAAGT	ATTCAAGT	-													tcattttctttctccttttcAttcaagtattttctctcact							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	ATTCAAGT	ATTCAAGT	-	-	ATTCAAGT	ATTCAAGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23420152_23420159delATTCAAGT	ENST00000302291.4	-	4	1397_1404	c.596_603delACTTGAAT	c.(595-603)tacttgaatfs	p.YLN199fs	LUZP1_ENST00000418342.1_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000314174.5_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000374623.3_Frame_Shift_Del_p.YLN199fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	199						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCTCCTTTTCATTCAAGTATTTTCTCTC	0.351													False	1	True	1:23420152	0	-	23420159	ATTCAAGT	-	23420152	7	5	123	1	0	1	0	1	0	0	0	0	9148	214	8	0	2635	0	LUZP1	1	23420152	Frame_Shift_Del	DEL	ATTCAAGT	TCGA-OE-A75W-01A-12D-A32N-08	1648	23420152	225830469	7	32041											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948876	37948876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccttctctgcctttggCcgggccatgggtgctggcca	14	14	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:37948876C>T	ENST00000373087.6	+	6	1580	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	488	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCTTTGGCCGGGCCATGG	0.662													False	0	False	1:37948876	0	T	37948876	C	T	37948876	2	4	123	1	0	0	0	0	0	0	0	1	17644	726	26	2		2	ZC3H12A	1	37948876	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	14528724	37948876	211301745	8	32042											
MAST2	23139	broad.mit.edu	37	chr1	46491369	46491369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagactgtgccactctgCtgaagaatattggggccctg	15	9	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:46491369C>T	ENST00000361297.2	+	16	2084	c.1801C>T	c.(1801-1803)Ctg>Ttg	p.L601L	MAST2_ENST00000372009.2_Silent_p.L531L	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	601	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGCCACTCTGCTGAAGAATAT	0.547													False	0	False	1:46491369	0	T	46491369	C	T	46491369	2	4	123	1	0	0	0	0	0	0	0	1	9392	796	28	2		2	MAST2	1	46491369	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	8542493	46491369	202759252	9	32043											
ZCCHC11	23318	broad.mit.edu	37	chr1	52927392	52927392	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaaattcatacctggatgtCtcttaagaatttttgccaaa	5	8	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:52927392C>A	ENST00000371544.3	-	17	3381	c.3119G>T	c.(3118-3120)aGa>aTa	p.R1040I	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1040I	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1040					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ACCTGGATGTCTCTTAAGAAT	0.214													False	0	False	1:52927392	0	A	52927392	C	A	52927392	3	1	123	1	0	0	0	0	1	0	0	0	17663	913	32	3	1874	3	ZCCHC11	1	52927392	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	6436023	52927392	196323229	10	32044											
SSBP3	23648	broad.mit.edu	37	chr1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgggtggtggtctcatgCcgctgccgtaattctgcaac	13	10	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000326956.7_5'UTR	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	222	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						TGGTCTCATGCCGCTGCCGTA	0.562													False	0	False	1:54708959	0	T	54708959	C	T	54708959	3	4	123	1	0	0	0	0	1	0	0	0	15263	739	26	2	537	2	SSBP3	1	54708959	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1781567	54708959	194541662	11	32045											
NTNG1	22854	broad.mit.edu	37	chr1	107961223	107961223	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaaagtttaataggaTatggccgaatatttcttccc	6	10	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:107961223T>A	ENST00000370067.1	+	6	1736	c.1109T>A	c.(1108-1110)aTa>aAa	p.I370K	NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.I370K|NTNG1_ENST00000370068.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370071.2_Missense_Mutation_p.I370K|NTNG1_ENST00000370070.2_Missense_Mutation_p.I370K|NTNG1_ENST00000370066.1_Missense_Mutation_p.I370K|NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370065.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	378	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTTAATAGGATATGGCCGAAT	0.368													False	0	False	1:107961223	0	A	107961223	T	A	107961223	3	1	123	1	0	0	0	0	1	0	0	0	10772	1406	49	5	1127	5	NTNG1	1	107961223	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	53252264	107961223	141289398	12	32046											
CELF3	11189	broad.mit.edu	37	chr1	151680404	151680404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcaccaccaggctggacGaggcaccctgggcacgggcc	13	16	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:151680404G>A	ENST00000290583.4	-	6	1287	c.494C>T	c.(493-495)tCg>tTg	p.S165L	RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.S165L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	165	RRM 2.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CAGGCTGGACGAGGCACCCTG	0.647													False	0	False	1:151680404	0	A	151680404	G	A	151680404	3	1	123	1	0	0	0	0	1	0	0	0	3240	1059	37	1	931	1	CELF3	1	151680404	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	43719181	151680404	97570217	13	32047											
PGLYRP3	114771	broad.mit.edu	37	chr1	153271680	153271680	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccatccaaccccttcataCacgccaccatcctggcccac	4	21	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:153271680C>A	ENST00000290722.1	-	6	808	c.756G>T	c.(754-756)gtG>gtT	p.V252V		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	252					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCTTCATACACGCCACCAT	0.458													False	0	False	1:153271680	0	A	153271680	C	A	153271680	2	1	123	1	0	0	0	0	0	0	0	1	11864	465	17	3		3	PGLYRP3	1	153271680	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1591276	153271680	95978941	14	32048											
OR10J1	26476	broad.mit.edu	37	chr1	159410194	159410194	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgattatcagtgtgctgGtgcttgttgtacctatgggt	12	6	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:159410194G>T	ENST00000423932.3	+	1	683	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	216					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CAGTGTGCTGGTGCTTGTTGT	0.453													False	0	False	1:159410194	0	T	159410194	G	T	159410194	3	4	123	1	0	0	0	0	1	0	0	0	10978	1261	44	3	648	3	OR10J1	1	159410194	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	6138514	159410194	89840427	15	32049											
CACNA1E	777	broad.mit.edu	37	chr1	181724500	181724500	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggaaagttcttttattgcaCggacagttccaaggacacag	11	8	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:181724500C>G	ENST00000526775.1	+	27	4064	c.3899C>G	c.(3898-3900)aCg>aGg	p.T1300R	CACNA1E_ENST00000358338.5_Missense_Mutation_p.T1251R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1270R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T926R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1300R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1319R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T1319R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1319					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTTATTGCACGGACAGTTCC	0.453													False	0	False	1:181724500	0	G	181724500	C	G	181724500	3	3	123	1	0	0	0	0	1	0	0	0	2562	536	19	5	4066	5	CACNA1E	1	181724500	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	22314306	181724500	67526121	16	32050											
RGS16	6004	broad.mit.edu	37	chr1	182569575	182569575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtgtcttcccctgagccGcatcaaagcatgtggctgtg	11	12	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:182569575G>A	ENST00000367558.5	-	5	609	c.461C>T	c.(460-462)gCg>gTg	p.A154V		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	154	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						CCCCTGAGCCGCATCAAAGCA	0.602													False	0	False	1:182569575	0	A	182569575	G	A	182569575	3	1	123	1	0	0	0	0	1	0	0	0	13377	1087	38	1	151	1	RGS16	1	182569575	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	845075	182569575	66681046	17	32051											
HMCN1	83872	broad.mit.edu	37	chr1	186120449	186120449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgatactagaataatacGtgccaaaattaccaatgtac	5	9	1	2	rs148097981		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:186120449G>A	ENST00000271588.4	+	94	14955	c.14726G>A	c.(14725-14727)cGt>cAt	p.R4909H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4909H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4909	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAATAATACGTGCCAAAATT	0.318													False	0	False	1:186120449	0	A	186120449	G	A	186120449	3	1	123	1	0	0	0	0	1	0	0	0	7267	1145	40	1	15100	1	HMCN1	1	186120449	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3550874	186120449	63130172	18	32052											
ASPM	259266	broad.mit.edu	37	chr1	197091099	197091100	+	Frame_Shift_Ins	INS	-	-	GCATTATTAAGATAAATTT													ttctccatgttgtttgtatgINSagtcgagcagctcttatttc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:197091099_197091100insGCATTATTAAGATAAATTT	ENST00000367409.4	-	16	4071_4072	c.3815_3816insAAATTTATCTTAATAATGC	c.(3814-3816)ctcfs	p.-1272fs	ASPM_ENST00000294732.7_Frame_Shift_Ins_p.-1272fs|ASPM_ENST00000367408.1_Frame_Shift_Ins_p.-522fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)						mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTTTGTATGAGTCGAGCAGC	0.322													False	0	False	1:197091099	0	GCATTATTAAGATAAATTT	197091100	-	GCATTATTAAGATAAATTT	197091099	7	5	123	1	0	1	1	0	0	0	0	0	1060	1277	45	0	6669	0	ASPM	1	197091099	Frame_Shift_Ins	INS	-	TCGA-OE-A75W-01A-12D-A32N-08	10970650	197091099	52159522	19	32053											
CR1	1378	broad.mit.edu	37	chr1	207790017	207790017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaatatcttacgcatgCgacacccacccagacagagg	8	12	1	3	rs55775404		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:207790017C>T	ENST00000367049.4	+	41	6759	c.6759C>T	c.(6757-6759)tgC>tgT	p.C2253C	CR1_ENST00000400960.2_Silent_p.C1803C|CR1_ENST00000367051.1_Silent_p.C1803C|CR1_ENST00000367052.1_Silent_p.C1803C|CR1_ENST00000367053.1_Silent_p.C1803C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1803					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTACGCATGCGACACCCACC	0.498													False	0	False	1:207790017	0	T	207790017	C	T	207790017	2	4	123	1	0	0	0	0	0	0	0	1	3863	776	27	1		1	CR1	1	207790017	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	10698918	207790017	41460604	20	32054											
ARF1	375	broad.mit.edu	37	chr1	228285699	228285699	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactggctgtccaatcagctCcggaaccagaagtgaacgcg	12	12	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:228285699C>T	ENST00000541182.1	+	5	793	c.531C>T	c.(529-531)ctC>ctT	p.L177L	ARF1_ENST00000272102.5_Silent_p.L177L|ARF1_ENST00000540651.1_Silent_p.L177L|ARF1_ENST00000478424.1_3'UTR	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	177					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCAATCAGCTCCGGAACCAGA	0.602													False	0	False	1:228285699	0	T	228285699	C	T	228285699	2	4	123	1	0	0	0	0	0	0	0	1	846	842	30	2		2	ARF1	1	228285699	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	20495682	228285699	20964922	21	32055											
MYT1L	23040	broad.mit.edu	37	chr2	1982980	1982980	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgacatgaccactgccgtCacagccaggggtgggacagc	13	13	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:1982980C>T	ENST00000399161.2	-	8	856	c.109G>A	c.(109-111)Gac>Aac	p.D37N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D37N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	37					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCACTGCCGTCACAGCCAGGG	0.512													False	0	False	2:1982980	0	T	1982980	C	T	1982980	3	4	123	1	0	0	0	0	1	0	0	0	10174	826	29	2	3517	2	MYT1L	2	1982980	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		1982980	241216393	22	32056											
LRRTM1	347730	broad.mit.edu	37	chr2	80529763	80529763	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcccctccccgccgtccgcGagcgtggtggccgagctggc	15	18	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:80529763G>A	ENST00000295057.3	-	2	1838	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L394L|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	394						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGCCGTCCGCGAGCGTGGTGG	0.716										HNSCC(69;0.2)			False	0	False	2:80529763	0	A	80529763	G	A	80529763	2	1	123	1	0	0	0	0	0	0	0	1	9101	1045	37	1		1	LRRTM1	2	80529763	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	78546783	80529763	162669610	23	32057											
NCAPH	23397	broad.mit.edu	37	chr2	97007560	97007560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaggagcggctgcagcGgaggcgctcgagggtctttg	19	8	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:97007560G>A	ENST00000455200.1	+	2	462	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000240423.4_Missense_Mutation_p.R67Q			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	67					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CGGCTGCAGCGGAGGCGCTCG	0.592													False	0	False	2:97007560	0	A	97007560	G	A	97007560	3	1	123	1	0	0	0	0	1	0	0	0	10277	1116	39	1	206	1	NCAPH	2	97007560	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	16477797	97007560	146191813	24	32058											
LRP1B	53353	broad.mit.edu	37	chr2	141299402	141299402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattggctgatgtggaatatCggaacgaagaatttttgtat	11	4	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:141299402C>T	ENST00000389484.3	-	44	8304	c.7333G>A	c.(7333-7335)Gat>Aat	p.D2445N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2445					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTGGAATATCGGAACGAAGA	0.388										TSP Lung(27;0.18)			False	0	False	2:141299402	0	T	141299402	C	T	141299402	3	4	123	1	0	0	0	0	1	0	0	0	9017	884	31	1	6658	1	LRP1B	2	141299402	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	44291842	141299402	101899971	25	32059											
SCN3A	6328	broad.mit.edu	37	chr2	165997338	165997338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcgctctccatgtctgtgCggcacaaacagtgagtctct	10	13	3	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:165997338C>T	ENST00000360093.3	-	13	2333	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	SCN3A_ENST00000283254.7_Silent_p.P614P|SCN3A_ENST00000409101.3_Silent_p.P614P	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	614						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CATGTCTGTGCGGCACAAACA	0.507													False	0	False	2:165997338	0	T	165997338	C	T	165997338	2	4	123	1	0	0	0	0	0	0	0	1	13999	755	27	1		1	SCN3A	2	165997338	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	24697936	165997338	77202035	26	32060											
NOSTRIN	115677	broad.mit.edu	37	chr2	169716142	169716142	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	attccatcttcaggtggaggGaaaaggtaacatttaaggag	12	5	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:169716142G>C	ENST00000444448.2	+	16	1821	c.1345G>C	c.(1345-1347)Gaa>Caa	p.E449Q	NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E314Q|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E314Q|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E449Q|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E392Q			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	392	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAGGTGGAGGGAAAAGGTAAC	0.438													False	0	True	2:169716142	0	C	169716142	G	C	169716142	3	2	123	1	0	0	0	0	1	0	0	0	10614	1175	41	5	1399	5	NOSTRIN	2	169716142	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3718804	169716142	73483231	27	32061											
TTN	7273	broad.mit.edu	37	chr2	179412983	179412983	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcggaggatttgctagtatCaacaacatcaagtctcctag	9	9	3	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179412983C>T	ENST00000589042.1	-	339	93594	c.93370G>A	c.(93370-93372)Gat>Aat	p.D31124N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D28556N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22184N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22251N|TTN_ENST00000591111.1_Missense_Mutation_p.D29483N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D22059N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29483	Ig-like 139.		A -> G.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCTAGTATCAACAACATCA	0.483													False	0	False	2:179412983	0	T	179412983	C	T	179412983	3	4	123	1	0	0	0	0	1	0	0	0	16819	826	29	2	14705	2	TTN	2	179412983	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9696841	179412983	63786390	28	32062											
TTN	7273	broad.mit.edu	37	chr2	179597812	179597812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacaacactatccacgttgCgcaagggtttggtaaaaaat	8	8	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179597812C>T	ENST00000589042.1	-	55	16315	c.16091G>A	c.(16090-16092)cGc>cAc	p.R5364H	TTN_ENST00000342992.6_Missense_Mutation_p.R4120H|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R5047H|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5047	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCACGTTGCGCAAGGGTTT	0.453													False	0	False	2:179597812	0	T	179597812	C	T	179597812	3	4	123	1	0	0	0	0	1	0	0	0	16819	768	27	1	88670	1	TTN	2	179597812	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	184829	179597812	63601561	29	32063											
TTN	7273	broad.mit.edu	37	chr2	179641336	179641336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaaattcattgatcataCggagcctgttggctgcttca	8	11	3	1	rs150737838	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179641336C>T	ENST00000589042.1	-	28	5479	c.5255G>A	c.(5254-5256)cGt>cAt	p.R1752H	TTN_ENST00000342992.6_Missense_Mutation_p.R1752H|TTN_ENST00000360870.5_Missense_Mutation_p.R1752H|TTN_ENST00000359218.5_Missense_Mutation_p.R1706H|TTN_ENST00000342175.6_Missense_Mutation_p.R1706H|TTN_ENST00000591111.1_Missense_Mutation_p.R1752H|TTN_ENST00000460472.2_Missense_Mutation_p.R1706H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1505	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGATCATACGGAGCCTGTT	0.478													False	0	False	2:179641336	0	T	179641336	C	T	179641336	3	4	123	1	0	0	0	0	1	0	0	0	16819	536	19	1	106073	1	TTN	2	179641336	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	43524	179641336	63558037	30	32064											
NDUFB3	4709	broad.mit.edu	37	chr2	201943722	201943722	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaagaagctggctgcaaaAgggctaagggatccatgggg	16	7	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:201943722A>G	ENST00000237889.4	+	2	440	c.117A>G	c.(115-117)aaA>aaG	p.K39K	NDUFB3_ENST00000454214.1_Silent_p.K39K|NDUFB3_ENST00000433898.1_Silent_p.K39K	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	39					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)|urinary_tract(1)	3					NADH(DB00157)	TGGCTGCAAAAGGGCTAAGGG	0.393													False	0	True	2:201943722	0	G	201943722	A	G	201943722	2	3	123	1	0	0	0	0	0	0	0	1	10350	69	3	4		4	NDUFB3	2	201943722	Silent	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	22302386	201943722	41255651	31	32065											
NRP2	8828	broad.mit.edu	37	chr2	206581077	206581077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggcaggcttctctctgCgctacgagatcttcaagaca	12	11	4	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:206581077C>T	ENST00000360409.3	+	3	1203	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	NRP2_ENST00000417189.1_Missense_Mutation_p.R138C|NRP2_ENST00000412873.2_Missense_Mutation_p.R138C|NRP2_ENST00000540841.1_Missense_Mutation_p.R138C|NRP2_ENST00000357785.5_Missense_Mutation_p.R138C|NRP2_ENST00000357118.4_Missense_Mutation_p.R138C|NRP2_ENST00000355117.4_Missense_Mutation_p.R138C|NRP2_ENST00000272849.3_Missense_Mutation_p.R138C|NRP2_ENST00000540178.1_Missense_Mutation_p.R138C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	138	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTTCTCTCTGCGCTACGAGAT	0.617													False	0	False	2:206581077	0	T	206581077	C	T	206581077	3	4	123	1	0	0	0	0	1	0	0	0	10729	768	27	1	422	1	NRP2	2	206581077	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	4637355	206581077	36618296	32	32066											
CXCR1	3577	broad.mit.edu	37	chr2	219029099	219029099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggccgatgttgttgcggCgctcacagctctcctggatc	12	15	2	0	rs56030518		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:219029099C>T	ENST00000295683.2	-	2	956	c.836G>A	c.(835-837)cGc>cAc	p.R279H		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	279					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GTTGTTGCGGCGCTCACAGCT	0.572													False	0	False	2:219029099	0	T	219029099	C	T	219029099	3	4	123	1	0	0	0	0	1	0	0	0	4115	768	27	1	220	1	CXCR1	2	219029099	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	12448022	219029099	24170274	33	32067											
ANKMY1	51281	broad.mit.edu	37	chr2	241496633	241496633	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcgaagacagcgtagttcttCagggaccccggctcctcggc	13	14	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:241496633C>T	ENST00000401804.1	-	2	258	c.120G>A	c.(118-120)ctG>ctA	p.L40L	ANKMY1_ENST00000405523.3_Silent_p.L40L|ANKMY1_ENST00000406958.1_Silent_p.L40L|ANKMY1_ENST00000373318.2_Silent_p.L40L|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Silent_p.L119L|ANKMY1_ENST00000272972.3_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000361678.4_Silent_p.L40L			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	0							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CGTAGTTCTTCAGGGACCCCG	0.677											OREG0015353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	2:241496633	0	T	241496633	C	T	241496633	2	4	123	1	0	0	0	0	0	0	0	1	634	813	29	2		2	ANKMY1	2	241496633	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	22467534	241496633	1702740	34	32068											
CAND2	23066	broad.mit.edu	37	chr3	12858310	12858310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcggaatgagatcaccCggctgcccgccatcaaggcg	13	15	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:12858310C>T	ENST00000456430.2	+	10	1920	c.1879C>T	c.(1879-1881)Cgg>Tgg	p.R627W	CAND2_ENST00000295989.5_Missense_Mutation_p.R534W	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	627					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.R534W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGAGATCACCCGGCTGCCCGC	0.632													False	0	True	3:12858310	0	T	12858310	C	T	12858310	3	4	123	1	0	0	0	0	1	0	0	0	2636	643	23	1	1917	1	CAND2	3	12858310	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		12858310	185164120	35	32069											
SCN5A	6331	broad.mit.edu	37	chr3	38592068	38592068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcggagaggccgctgcccGcctgctgacggaagaggaag	16	12	0	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:38592068G>A	ENST00000413689.1	-	28	5988	c.5795C>T	c.(5794-5796)gCg>gTg	p.A1932V	SCN5A_ENST00000425664.1_Missense_Mutation_p.A1914V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1931V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A1932V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1899V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1914V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1931V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1878V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1932					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCGCTGCCCGCCTGCTGACG	0.622													False	0	True	3:38592068	0	A	38592068	G	A	38592068	3	1	123	1	0	0	0	0	1	0	0	0	14003	1087	38	1	259	1	SCN5A	3	38592068	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	25733758	38592068	159430362	36	32070											
FYCO1	79443	broad.mit.edu	37	chr3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctactcactgttcagccGcatttgggtcgagagaatca	9	12	4	1	rs140583635		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:45996750G>A	ENST00000296137.2	-	14	4140	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_ENST00000438446.1_5'UTR|FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1312					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGCCGCATTTGGGTC	0.498													False	0	False	3:45996750	0	A	45996750	G	A	45996750	3	1	123	1	0	0	0	0	1	0	0	0	6167	1087	38	1	521	1	FYCO1	3	45996750	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	7404682	45996750	152025680	37	32071											
NISCH	11188	broad.mit.edu	37	chr3	52523640	52523640	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcccgtcgctccggcacgtCgccagcctgcggggcagcgc	15	18	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:52523640C>T	ENST00000345716.4	+	17	3536	c.3402C>T	c.(3400-3402)gtC>gtT	p.V1134V	NISCH_ENST00000479054.1_Silent_p.V1134V	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1134					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCCGGCACGTCGCCAGCCTGC	0.672													False	0	False	3:52523640	0	T	52523640	C	T	52523640	2	4	123	1	0	0	0	0	0	0	0	1	10500	871	31	1		1	NISCH	3	52523640	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	6526890	52523640	145498790	38	32072											
NSUN3	63899	broad.mit.edu	37	chr3	93783283	93783283	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttttcttatcgtcatagctGaaagcaaaatcagaggggaa	9	6	3	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:93783283G>A	ENST00000314622.4	+	2	226	c.15G>A	c.(13-15)ctG>ctA	p.L5L	NSUN3_ENST00000485793.1_3'UTR	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	5							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CGTCATAGCTGAAAGCAAAAT	0.353													False	0	True	3:93783283	0	A	93783283	G	A	93783283	2	1	123	1	0	0	0	0	0	0	0	1	10747	1277	45	2		2	NSUN3	3	93783283	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	41259643	93783283	104239147	39	32073											
GPR156	165829	broad.mit.edu	37	chr3	119886046	119886046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatttcacagtagggccGgtggcagcggcagaagaact	15	9	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:119886046G>A	ENST00000464295.1	-	10	2723	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	GPR156_ENST00000315843.3_Missense_Mutation_p.R760W|GPR156_ENST00000461057.1_Missense_Mutation_p.R756W			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	760						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAGTAGGGCCGGTGGCAGCGG	0.572													False	0	False	3:119886046	0	A	119886046	G	A	119886046	3	1	123	1	0	0	0	0	1	0	0	0	6707	1115	39	1	170	1	GPR156	3	119886046	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	26102763	119886046	78136384	40	32074											
IQCB1	9657	broad.mit.edu	37	chr3	121489398	121489398	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagctcaggttctttcccttCtgcctccttcagacttggtg	9	13	4	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:121489398C>T	ENST00000310864.6	-	15	1805	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	IQCB1_ENST00000349820.6_Missense_Mutation_p.E398K	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	531					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCTTTCCCTTCTGCCTCCTTC	0.517													False	0	False	3:121489398	0	T	121489398	C	T	121489398	3	4	123	1	0	0	0	0	1	0	0	0	7853	922	32	2	209	2	IQCB1	3	121489398	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1603352	121489398	76533032	41	32075											
MUC13	56667	broad.mit.edu	37	chr3	124632520	124632520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagccataataatcacaccGaagggtcactgagaagcaca	8	11	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:124632520G>A	ENST00000311075.3	-	7	1008	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	324	EGF-like 2.					extracellular region|integral to membrane|plasma membrane		p.R324W(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TAATCACACCGAAGGGTCACT	0.423													False	0	False	3:124632520	0	A	124632520	G	A	124632520	3	1	123	1	0	0	0	0	1	0	0	0	10038	1057	37	1	585	1	MUC13	3	124632520	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3143122	124632520	73389910	42	32076											
OSBPL11	114885	broad.mit.edu	37	chr3	125282595	125282595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctgggactgccaccgGcttactctgatcagttgcaa	9	13	4	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:125282595G>A	ENST00000296220.5	-	7	1250	c.961C>T	c.(961-963)Ccg>Tcg	p.P321S		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	321					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ACTGCCACCGGCTTACTCTGA	0.408													False	0	False	3:125282595	0	A	125282595	G	A	125282595	3	1	123	1	0	0	0	0	1	0	0	0	11344	1203	42	2	1310	2	OSBPL11	3	125282595	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	650075	125282595	72739835	43	32077											
CEP63	80254	broad.mit.edu	37	chr3	134278028	134278028	+	Missense_Mutation	SNP	G	G	T													cacagacatgatggaataaaGactgagcactacaaaacaga							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:134278028G>T	ENST00000337090.3	+	14	1883	c.1710G>T	c.(1708-1710)aaG>aaT	p.K570N	CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K570N|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K570N			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	570					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGGAATAAAGACTGAGCACT	0.423													False	0	True	3:134278028	0	T	134278028	G	T	134278028	3	4	123	1	0	0	0	0	1	0	0	0	3280	933	33	3	1760	3	CEP63	3	134278028	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	8995433	134278028	63744402	44	32078	376	2									
CEP63	80254	broad.mit.edu	37	chr3	134278030	134278030	+	Missense_Mutation	SNP	C	C	T													cagacatgatggaataaagaCtgagcactacaaaacagatc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:134278030C>T	ENST00000337090.3	+	14	1885	c.1712C>T	c.(1711-1713)aCt>aTt	p.T571I	CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.T571I|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.T571I			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	571					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAATAAAGACTGAGCACTAC	0.428													False	0	False	3:134278030	0	T	134278030	C	T	134278030	3	4	123	1	0	0	0	0	1	0	0	0	3280	565	20	2	1762	2	CEP63	3	134278030	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2	134278030	63744400	45	32079	376	2									
SOX14	8403	broad.mit.edu	37	chr3	137483748	137483748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactcggagatcagcaaacGcctaggtgccgaatggaagc	12	11	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:137483748G>A	ENST00000306087.1	+	1	170	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	41					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						ATCAGCAAACGCCTAGGTGCC	0.597													False	0	False	3:137483748	0	A	137483748	G	A	137483748	3	1	123	1	0	0	0	0	1	0	0	0	15025	1087	38	1	124	1	SOX14	3	137483748	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3205718	137483748	60538682	46	32080											
SLC25A36	55186	broad.mit.edu	37	chr3	140692616	140692616	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcgtaaagtgtatcagacaGatggactaaaaggattttat	9	4	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:140692616G>A	ENST00000446041.2	+	6	736	c.511G>A	c.(511-513)Gat>Aat	p.D171N	SLC25A36_ENST00000324194.6_Missense_Mutation_p.D171N|SLC25A36_ENST00000453248.2_Missense_Mutation_p.D145N	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	171					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTATCAGACAGATGGACTAAA	0.353													False	0	True	3:140692616	0	A	140692616	G	A	140692616	3	1	123	1	0	0	0	0	1	0	0	0	14580	942	33	2	533	2	SLC25A36	3	140692616	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3208868	140692616	57329814	47	32081											
P2RY1	5028	broad.mit.edu	37	chr3	152553971	152553971	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaggttcatctttcatgtgAacctctatggcagcatcttg	9	9	5	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:152553971A>T	ENST00000305097.3	+	1	1236	c.400A>T	c.(400-402)Aac>Tac	p.N134Y		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	134					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTTTCATGTGAACCTCTATGG	0.507													False	0	False	3:152553971	0	T	152553971	A	T	152553971	3	4	123	1	0	0	0	0	1	0	0	0	11414	246	9	5	402	5	P2RY1	3	152553971	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	11861355	152553971	45468459	48	32082											
MECOM	2122	broad.mit.edu	37	chr3	168845679	168845679	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattccttacactcctggatCgtgtgtatctcttggagatc	8	11	1	1	rs150481592		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:168845679C>T	ENST00000464456.1	-	4	1419	c.219G>A	c.(217-219)acG>acA	p.T73T	MECOM_ENST00000433243.2_Silent_p.T73T|MECOM_ENST00000264674.3_Silent_p.T137T|MECOM_ENST00000460814.1_Silent_p.T73T|MECOM_ENST00000468789.1_Silent_p.T73T|MECOM_ENST00000392736.3_Silent_p.T73T|MECOM_ENST00000472280.1_Silent_p.T73T|MECOM_ENST00000494292.1_Silent_p.T261T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACTCCTGGATCGTGTGTATCT	0.388													False	0	True	3:168845679	0	T	168845679	C	T	168845679	2	4	123	1	0	0	0	0	0	0	0	1	9489	871	31	1		1	MECOM	3	168845679	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	16291708	168845679	29176751	49	32083											
FXR1	0	broad.mit.edu	37	chr3	180675681	180675681	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgtggttcgagtgagaattGaaggggacaatgaaaataaa	14	2	0	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:180675681G>C	ENST00000357559.4	+	10	1339	c.955G>C	c.(955-957)Gaa>Caa	p.E319Q	FXR1_ENST00000480918.1_Missense_Mutation_p.E306Q|FXR1_ENST00000491062.1_Missense_Mutation_p.E270Q|FXR1_ENST00000445140.2_Missense_Mutation_p.E319Q|FXR1_ENST00000468861.1_Missense_Mutation_p.E234Q|FXR1_ENST00000305586.7_Missense_Mutation_p.E234Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	319					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGTGAGAATTGAAGGGGACAA	0.313													False	0	False	3:180675681	0	C	180675681	G	C	180675681	3	2	123	1	0	0	0	0	1	0	0	0	6157	1291	45	5	993	5	FXR1	3	180675681	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	11830002	180675681	17346749	50	32084											
EIF4G1	1981	broad.mit.edu	37	chr3	184038482	184038482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatcatgtctggggcccGcactgcctccacacccaccc	10	18	2	1	rs34838305	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:184038482G>A	ENST00000342981.4	+	7	1016	c.602G>A	c.(601-603)cGc>cAc	p.R201H	EIF4G1_ENST00000427845.1_Missense_Mutation_p.R114H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R208H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R5H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R201H|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R201H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R5H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R37H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R114H|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R37H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R208H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R208H	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	201					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGGGGCCCGCACTGCCTCC	0.547													False	0	True	3:184038482	0	A	184038482	G	A	184038482	3	1	123	1	0	0	0	0	1	0	0	0	5068	1087	38	1	624	1	EIF4G1	3	184038482	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3362801	184038482	13983948	51	32085											
SENP5	205564	broad.mit.edu	37	chr3	196612958	196612958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaaagacccttcttgtcgGcatcagccgtactttccaga	7	14	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:196612958G>A	ENST00000323460.5	+	2	1155	c.906G>A	c.(904-906)cgG>cgA	p.R302R	SENP5_ENST00000445299.2_Silent_p.R302R|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	302					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CTTCTTGTCGGCATCAGCCGT	0.532													False	0	False	3:196612958	0	A	196612958	G	A	196612958	2	1	123	1	0	0	0	0	0	0	0	1	14130	1190	42	2		2	SENP5	3	196612958	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	12574476	196612958	1409472	52	32086											
DGKQ	1609	broad.mit.edu	37	chr4	954958	954958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaccctgggcaatccggAttccggagcgcagcccaccc	12	16	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:954958A>G	ENST00000273814.3	-	22	2679	c.2606T>C	c.(2605-2607)aTc>aCc	p.I869T		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	869					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCAATCCGGATTCCGGAGCG	0.726													False	0	False	4:954958	0	G	954958	A	G	954958	3	3	123	1	0	0	0	0	1	0	0	0	4503	333	12	4	230	4	DGKQ	4	954958	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08		954958	190199318	53	32087											
HGFAC	3083	broad.mit.edu	37	chr4	3445871	3445871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccccgggccttcaccgGcaaggactgcggcacaggtg	14	16	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:3445871G>A	ENST00000382774.3	+	5	696	c.581G>A	c.(580-582)gGc>gAc	p.G194D	HGFAC_ENST00000511533.1_Missense_Mutation_p.G194D	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	194	EGF-like 1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCTTCACCGGCAAGGACTGC	0.687													False	0	False	4:3445871	0	A	3445871	G	A	3445871	3	1	123	1	0	0	0	0	1	0	0	0	7133	1203	42	2	599	2	HGFAC	4	3445871	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2490913	3445871	187708405	54	32088											
FBXL5	26234	broad.mit.edu	37	chr4	15629518	15629518	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttaaacataccattttgctgGaaactgcagagctgtatgct	8	8	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:15629518G>C	ENST00000341285.3	-	7	1155	c.1031C>G	c.(1030-1032)tCc>tGc	p.S344C	FBXL5_ENST00000412094.2_Missense_Mutation_p.S327C|FBXL5_ENST00000382358.4_Missense_Mutation_p.S218C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	344					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CATTTTGCTGGAAACTGCAGA	0.338													False	0	True	4:15629518	0	C	15629518	G	C	15629518	3	2	123	1	0	0	0	0	1	0	0	0	5762	1174	41	5	1064	5	FBXL5	4	15629518	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	12183647	15629518	175524758	55	32089											
NUP54	53371	broad.mit.edu	37	chr4	77053791	77053792	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAGATTTAGAACTAAACACTCCCCGTAT													ttatattggcttgttcaaaaINStgggcatatagcgttgtagc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:77053791_77053792insAAAAAGAAAGATTTAGAACTAAACACTCCCCGTAT	ENST00000514987.1	-	5	669_670	c.647_648insATACGGGGAGTGTTTAGTTCTAAATCTTTCTTTTT	c.(646-648)catfs	p.H216fs	NUP54_ENST00000458189.2_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000342467.6_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000264883.3_Frame_Shift_Ins_p.H264fs			Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	264	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CTTGTTCAAAATGGGCATATAG	0.386													False	0	True	4:77053791	0	AAAAAGAAAGATTTAGAACTAAACACTCCCCGTAT	77053792	-	AAAAAGAAAGATTTAGAACTAAACACTCCCCGTAT	77053791	7	5	123	1	0	1	1	0	0	0	0	0	10835	98	4	0	759	0	NUP54	4	77053791	Frame_Shift_Ins	INS	-	TCGA-OE-A75W-01A-12D-A32N-08	61424273	77053791	114100485	56	32090											
FRAS1	80144	broad.mit.edu	37	chr4	79417989	79417989	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtacggtctatatccacgatGactccatgtttgagccagag	10	10	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:79417989G>T	ENST00000264895.6	+	60	9429	c.8989G>T	c.(8989-8991)Gac>Tac	p.D2997Y		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2992	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TATCCACGATGACTCCATGTT	0.448													False	0	False	4:79417989	0	T	79417989	G	T	79417989	3	4	123	1	0	0	0	0	1	0	0	0	6084	1290	45	3	9302	3	FRAS1	4	79417989	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2364198	79417989	111736287	57	32091											
ZNF330	27309	broad.mit.edu	37	chr4	142150724	142150724	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcttgttccttggttacaGggtgcaatatgtgacttctg	10	7	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:142150724G>T	ENST00000262990.4	+	6	519		c.e6-1		ZNF330_ENST00000421169.2_Splice_Site	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330							chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CTTGGTTACAGGGTGCAATAT	0.428													False	0	True	4:142150724	0	T	142150724	G	T	142150724	5	4	123	1	0	0	0	0	0	0	1	0	17931	1014	35	3	309	3	ZNF330	4	142150724	Splice_Site	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	62732735	142150724	49003552	58	32092											
MND1	84057	broad.mit.edu	37	chr4	154318479	154318479	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgatccgcaagttgtggaaGaaatacgtaagtttgtgtca	12	5	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:154318479G>T	ENST00000240488.3	+	6	549	c.460G>T	c.(460-462)Gaa>Taa	p.E154*	MND1_ENST00000504860.1_Nonsense_Mutation_p.E139*	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	154					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					AGTTGTGGAAGAAATACGTAA	0.373													False	0	True	4:154318479	0	T	154318479	G	T	154318479	4	4	123	1	0	0	0	0	0	1	0	0	9742	943	33	3	482	3	MND1	4	154318479	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	12167755	154318479	36835797	59	32093											
FSTL5	56884	broad.mit.edu	37	chr4	162307378	162307378	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtcacatcactattgaAcccaatgactgagtcagtta	7	12	3	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:162307378A>T	ENST00000306100.5	-	16	2501	c.2065T>A	c.(2065-2067)Ttc>Atc	p.F689I	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.F688I|FSTL5_ENST00000536695.1_Missense_Mutation_p.F688I|FSTL5_ENST00000427802.2_Missense_Mutation_p.F679I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	689						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCACTATTGAACCCAATGACT	0.488													False	0	True	4:162307378	0	T	162307378	A	T	162307378	3	4	123	1	0	0	0	0	1	0	0	0	6122	43	2	5	482	5	FSTL5	4	162307378	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	7988899	162307378	28846898	60	32094											
CEP72	55722	broad.mit.edu	37	chr5	633946	633946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagcctggtcatggatgCggatgacgaggcagtcctga	16	9	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:633946C>T	ENST00000264935.5	+	5	665	c.575C>T	c.(574-576)gCg>gTg	p.A192V	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	192					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTCATGGATGCGGATGACGAG	0.612													False	0	False	5:633946	0	T	633946	C	T	633946	3	4	123	1	0	0	0	0	1	0	0	0	3283	768	27	1	593	1	CEP72	5	633946	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		633946	180281314	61	32095											
EGFLAM	133584	broad.mit.edu	37	chr5	38370412	38370412	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataaaggccagatttcgacaAgaagtggacctcaatccatg	9	9	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:38370412A>T	ENST00000322350.5	+	6	906	c.560A>T	c.(559-561)aAg>aTg	p.K187M	EGFLAM_ENST00000354891.3_Missense_Mutation_p.K187M	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	187	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GATTTCGACAAGAAGTGGACC	0.448													False	0	False	5:38370412	0	T	38370412	A	T	38370412	3	4	123	1	0	0	0	0	1	0	0	0	4996	72	3	5	582	5	EGFLAM	5	38370412	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	37736466	38370412	142544848	62	32096											
NNT	23530	broad.mit.edu	37	chr5	43651892	43651892	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgttcaagcgtcccactgAccccccagaatacaactacc	5	17	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:43651892A>G	ENST00000264663.5	+	13	1990	c.1769A>G	c.(1768-1770)gAc>gGc	p.D590G	NNT_ENST00000344920.4_Missense_Mutation_p.D590G|NNT_ENST00000512996.2_Missense_Mutation_p.D459G	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	590					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CGTCCCACTGACCCCCCAGAA	0.463													False	0	True	5:43651892	0	G	43651892	A	G	43651892	3	3	123	1	0	0	0	0	1	0	0	0	10578	275	10	4	1815	4	NNT	5	43651892	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	5281480	43651892	137263368	63	32097											
RNF180	285671	broad.mit.edu	37	chr5	63509712	63509712	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcactctgcctggaggtgCgaccaacatattttgagatg	11	9	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:63509712C>T	ENST00000389100.4	+	4	631	c.559C>T	c.(559-561)Cga>Tga	p.R187*	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Nonsense_Mutation_p.R187*	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	187						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CCTGGAGGTGCGACCAACATA	0.453													False	0	False	5:63509712	0	T	63509712	C	T	63509712	4	4	123	1	0	0	0	0	0	1	0	0	13543	760	27	1	569	1	RNF180	5	63509712	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	19857820	63509712	117405548	64	32098											
HMGCR	3156	broad.mit.edu	37	chr5	74650437	74650437	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aactcatgagcgtggtgtatCtattcgccgacagttacttt	9	9	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:74650437C>T	ENST00000287936.4	+	12	1634	c.1478C>T	c.(1477-1479)tCt>tTt	p.S493F	HMGCR_ENST00000343975.5_Missense_Mutation_p.S493F|HMGCR_ENST00000511206.1_Missense_Mutation_p.S493F	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	493	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CGTGGTGTATCTATTCGCCGA	0.408													False	0	False	5:74650437	0	T	74650437	C	T	74650437	3	4	123	1	0	0	0	0	1	0	0	0	7278	913	32	2	1520	2	HMGCR	5	74650437	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	11140725	74650437	106264823	65	32099											
JMY	133746	broad.mit.edu	37	chr5	78586970	78586970	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgtgtatgatcgaatgCgagctgatcagaagaaattt	11	5	1	4			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:78586970C>T	ENST00000396137.4	+	4	1837	c.1375C>T	c.(1375-1377)Cga>Tga	p.R459*		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	459					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TGATCGAATGCGAGCTGATCA	0.358													False	0	False	5:78586970	0	T	78586970	C	T	78586970	4	4	123	1	0	0	0	0	0	1	0	0	8007	760	27	1	1389	1	JMY	5	78586970	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3936533	78586970	102328290	66	32100											
SLC25A46	91137	broad.mit.edu	37	chr5	110097039	110097039	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttccctacggtgcttcatGgagttcttcattacatcatc	6	12	5	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:110097039G>T	ENST00000355943.3	+	8	940	c.814G>T	c.(814-816)Gga>Tga	p.G272*	SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Nonsense_Mutation_p.G126*|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000509442.2_Nonsense_Mutation_p.G181*|SLC25A46_ENST00000509432.1_Nonsense_Mutation_p.G59*|SLC25A46_ENST00000513807.1_Nonsense_Mutation_p.G110*	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	272					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GGTGCTTCATGGAGTTCTTCA	0.433													False	0	False	5:110097039	0	T	110097039	G	T	110097039	4	4	123	1	0	0	0	0	0	1	0	0	14591	1349	47	3	844	3	SLC25A46	5	110097039	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	31510069	110097039	70818221	67	32101											
FAM170A	340069	broad.mit.edu	37	chr5	118965470	118965470	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctagctgatatcatgaaaCgacgacaaaagaggaaacat	8	7	2	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:118965470C>T	ENST00000515256.1	+	1	179	c.7C>T	c.(7-9)Cga>Tga	p.R3*				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	3						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TATCATGAAACGACGACAAAA	0.458													False	0	True	5:118965470	0	T	118965470	C	T	118965470	4	4	123	1	0	0	0	0	0	1	0	0	5525	528	19	1	9	1	FAM170A	5	118965470	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	8868431	118965470	61949790	68	32102											
KIF20A	10112	broad.mit.edu	37	chr5	137518869	137518869	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctccagaaacaagtcatCgatgggcacagccagacact	8	13	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:137518869C>T	ENST00000394894.3	+	8	1070	c.844C>T	c.(844-846)Cga>Tga	p.R282*	KIF20A_ENST00000508792.1_Nonsense_Mutation_p.R264*	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	282	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACAAGTCATCGATGGGCACA	0.498													False	0	False	5:137518869	0	T	137518869	C	T	137518869	4	4	123	1	0	0	0	0	0	1	0	0	8336	876	31	1	870	1	KIF20A	5	137518869	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	18553399	137518869	43396391	69	32103											
PCDHA13	0	broad.mit.edu	37	chr5	140263655	140263655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgcgcggtggacgccgattCgggctacaatgcgtggcttt	16	11	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140263655C>T	ENST00000289272.2	+	1	1802	c.1802C>T	c.(1801-1803)tCg>tTg	p.S601L	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S601L|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCCGATTCGGGCTACAAT	0.697													False	0	True	5:140263655	0	T	140263655	C	T	140263655	3	4	123	1	0	0	0	0	1	0	0	0	11591	893	31	1	1804	1	PCDHA13	5	140263655	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2744786	140263655	40651605	70	32104											
PCDHB6	0	broad.mit.edu	37	chr5	140531689	140531689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgttcggcgtgtgggcGcacaatggcgaggtgcgcac	18	10	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140531689G>A	ENST00000231136.1	+	1	1851	c.1851G>A	c.(1849-1851)gcG>gcA	p.A617A	PCDHB6_ENST00000543635.1_Silent_p.A481A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		617	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGTGTGGGCGCACAATGGCG	0.672													False	0	False	5:140531689	0	A	140531689	G	A	140531689	2	1	123	1	0	0	0	0	0	0	0	1	11614	1074	38	1		1	PCDHB6	5	140531689	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	268034	140531689	40383571	71	32105											
PCDHB8	0	broad.mit.edu	37	chr5	140558339	140558339	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtcaatgataatgcccctGaatttgagcagcctttctat	7	9	2	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140558339G>A	ENST00000239444.2	+	1	969	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		242	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATGCCCCTGAATTTGAGCA	0.502													False	0	False	5:140558339	0	A	140558339	G	A	140558339	3	1	123	1	0	0	0	0	1	0	0	0	11616	1291	45	2	726	2	PCDHB8	5	140558339	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	26650	140558339	40356921	72	32106											
CLINT1	9685	broad.mit.edu	37	chr5	157232960	157232960	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atgtgctgctgctccaagatCaatggttttggaaggatttg	12	6	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:157232960C>G	ENST00000523094.1	-	7	1007	c.802G>C	c.(802-804)Gat>Cat	p.D268H	CLINT1_ENST00000296951.5_Missense_Mutation_p.D268H|CLINT1_ENST00000523908.1_Missense_Mutation_p.D286H|CLINT1_ENST00000411809.2_Missense_Mutation_p.D286H|CLINT1_ENST00000530742.1_Missense_Mutation_p.D268H	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	286					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCCAAGATCAATGGTTTTG	0.483													False	0	False	5:157232960	0	G	157232960	C	G	157232960	3	3	123	1	0	0	0	0	1	0	0	0	3554	826	29	5	1045	5	CLINT1	5	157232960	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	16674621	157232960	23682300	73	32107											
RNF145	153830	broad.mit.edu	37	chr5	158596042	158596042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactgccaggattaacagCgttactccttctgtcatgcc	8	13	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:158596042C>T	ENST00000424310.2	-	8	1319	c.960G>A	c.(958-960)acG>acA	p.T320T	RNF145_ENST00000521606.2_Silent_p.T337T|RNF145_ENST00000520638.1_Silent_p.T334T|RNF145_ENST00000274542.2_Silent_p.T348T|RNF145_ENST00000519865.1_Silent_p.T320T|RNF145_ENST00000518802.1_Silent_p.T350T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	320						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGATTAACAGCGTTACTCCTT	0.383													False	0	False	5:158596042	0	T	158596042	C	T	158596042	2	4	123	1	0	0	0	0	0	0	0	1	13526	755	27	1		1	RNF145	5	158596042	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1363082	158596042	22319218	74	32108											
SLIT3	6586	broad.mit.edu	37	chr5	168175367	168175367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagccccttgttgctgcatCgcaccactgtctccatacag	9	15	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:168175367C>T	ENST00000519560.1	-	20	2629	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.R737Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.R737Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	737	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGCTGCATCGCACCACTGT	0.642													False	0	False	5:168175367	0	T	168175367	C	T	168175367	3	4	123	1	0	0	0	0	1	0	0	0	14821	884	31	1	2429	1	SLIT3	5	168175367	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9579325	168175367	12739893	75	32109											
CDHR2	54825	broad.mit.edu	37	chr5	176008451	176008451	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaccctgacacagggctcctCagaaacctggggcccctgga	12	15	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:176008451C>G	ENST00000510636.1	+	17	2200	c.1926C>G	c.(1924-1926)ctC>ctG	p.L642L	CDHR2_ENST00000506348.1_Silent_p.L642L|CDHR2_ENST00000261944.5_Silent_p.L642L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	642	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CAGGGCTCCTCAGAAACCTGG	0.627													False	0	False	5:176008451	0	G	176008451	C	G	176008451	2	3	123	1	0	0	0	0	0	0	0	1	3142	813	29	5		5	CDHR2	5	176008451	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	7833084	176008451	4906809	76	32110											
F12	2161	broad.mit.edu	37	chr5	176831274	176831274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgcgcgggcatgagtGggacatgaagcctaggggac	18	10	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:176831274G>A	ENST00000253496.3	-	9	989	c.941C>T	c.(940-942)cCa>cTa	p.P314L		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	314	Pro-rich.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCATGAGTGGGACATGAAG	0.711									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	5:176831274	0	A	176831274	G	A	176831274	3	1	123	1	0	0	0	0	1	0	0	0	5372	1348	47	2	930	2	F12	5	176831274	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	822823	176831274	4083986	77	32111											
CLK4	57396	broad.mit.edu	37	chr5	178045614	178045614	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttccttttaggactgcttctCctgctgcggactgaagattt	9	10	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:178045614C>G	ENST00000316308.4	-	3	495	c.327G>C	c.(325-327)agG>agC	p.R109S	CLK4_ENST00000522749.1_5'UTR	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	109						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		GACTGCTTCTCCTGCTGCGGA	0.413													False	0	False	5:178045614	0	G	178045614	C	G	178045614	3	3	123	1	0	0	0	0	1	0	0	0	3562	854	30	5	1162	5	CLK4	5	178045614	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1214340	178045614	2869646	78	32112											
RREB1	6239	broad.mit.edu	37	chr6	7246974	7246974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatggacttcaagctggcgGagggcgacggcgaggcaggc	18	10	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:7246974G>A	ENST00000379938.2	+	12	4828	c.4291G>A	c.(4291-4293)Gag>Aag	p.E1431K	RREB1_ENST00000334984.6_Intron|RREB1_ENST00000349384.6_Missense_Mutation_p.E1376K|RREB1_ENST00000379933.3_Missense_Mutation_p.E1376K	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1376					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAAGCTGGCGGAGGGCGACGG	0.687													False	0	False	6:7246974	0	A	7246974	G	A	7246974	3	1	123	1	0	0	0	0	1	0	0	0	13758	1175	41	2	4325	2	RREB1	6	7246974	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		7246974	163868093	79	32113											
MOCS1	4337	broad.mit.edu	37	chr6	39881079	39881079	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	accatcaaagggcatatactCtatgaagcgcacatccaggg	9	11	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:39881079C>G	ENST00000373186.4	-	5	876	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	MOCS1_ENST00000425303.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000373175.4_Missense_Mutation_p.E218Q|MOCS1_ENST00000308559.7_Missense_Mutation_p.E247Q|MOCS1_ENST00000373195.3_Missense_Mutation_p.E160Q|MOCS1_ENST00000340692.5_Missense_Mutation_p.E247Q|MOCS1_ENST00000373188.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000432280.2_Missense_Mutation_p.E218Q	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	247	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCATATACTCTATGAAGCGC	0.582													False	0	False	6:39881079	0	G	39881079	C	G	39881079	3	3	123	1	0	0	0	0	1	0	0	0	9757	922	32	5	438	5	MOCS1	6	39881079	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	32634105	39881079	131233988	80	32114											
GRIK2	2898	broad.mit.edu	37	chr6	102516276	102516276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtccctgaagtgccagCgtcggttaaaacataagcca	11	10	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:102516276C>T	ENST00000421544.1	+	16	3107	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C	GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.R824C|GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369137.3_Missense_Mutation_p.R797C	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	873					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAAGTGCCAGCGTCGGTTAAA	0.398													False	0	False	6:102516276	0	T	102516276	C	T	102516276	3	4	123	1	0	0	0	0	1	0	0	0	6821	768	27	1	2852	1	GRIK2	6	102516276	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	62635197	102516276	68598791	81	32115											
GPR6	0	broad.mit.edu	37	chr6	110300379	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-													tagtggcggccgaaggagcgGcggcggcggccacagcagca							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:110300379_110300435delGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	82_138	c.64_120delGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(64-120)gcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAATAAGGPDTGEWGPPA22del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAATAAGGPDTGEWGPPA37del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	22	Poly-Ala.					integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		cgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712													False	1	False	6:110300379	0	-	110300435	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	110300379	7	5	123	1	0	1	0	1	0	0	0	0	6747	1203	42	0	66	0	GPR6	6	110300379	In_Frame_Del	DEL	GCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	TCGA-OE-A75W-01A-12D-A32N-08	7784103	110300379	60814688	82	32116											
SDK1	221935	broad.mit.edu	37	chr7	4089014	4089014	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagaacgtgcagacggaAgccgtgaactccaccaccat	10	15	0	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:4089014A>G	ENST00000404826.2	+	18	2776	c.2637A>G	c.(2635-2637)gaA>gaG	p.E879E	SDK1_ENST00000389531.3_Silent_p.E879E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	879	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCAGACGGAAGCCGTGAACT	0.582													False	0	False	7:4089014	0	G	4089014	A	G	4089014	2	3	123	1	0	0	0	0	0	0	0	1	14049	69	3	4		4	SDK1	7	4089014	Silent	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08		4089014	155049649	83	32117											
DDC	1644	broad.mit.edu	37	chr7	50595897	50595897	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgcagggcagacgcacGcatggcgaagttgccatctg	13	12	1	1	rs150760434		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:50595897G>C	ENST00000444124.2	-	6	852	c.652C>G	c.(652-654)Cgt>Ggt	p.R218G	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Missense_Mutation_p.R218G|DDC_ENST00000426377.1_Missense_Mutation_p.R140G|DDC_ENST00000380984.4_Missense_Mutation_p.R218G	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	218					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCAGACGCACGCATGGCGAAG	0.532													False	0	True	7:50595897	0	C	50595897	G	C	50595897	3	2	123	1	0	0	0	0	1	0	0	0	4350	1087	38	5	826	5	DDC	7	50595897	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	46506883	50595897	108542766	84	32118											
DNAJC2	27000	broad.mit.edu	37	chr7	102960230	102960230	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcaagccgatcacaaagtTtttccacttcttccatcatt	4	12	4	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:102960230T>G	ENST00000379263.3	-	11	1395	c.1145A>C	c.(1144-1146)aAa>aCa	p.K382T	DNAJC2_ENST00000249270.7_Intron|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	382					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ATCACAAAGTTTTTCCACTTC	0.353													False	0	True	7:102960230	0	G	102960230	T	G	102960230	3	3	123	1	0	0	0	0	1	0	0	0	4669	1841	64	4	748	4	DNAJC2	7	102960230	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	52364333	102960230	56178433	85	32119											
GRM8	0	broad.mit.edu	37	chr7	126410092	126410092	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctttccttcctgttcataaGatgaatcccgagcaattcgc	6	13	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:126410092G>A	ENST00000339582.2	-	7	1992	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	GRM8_ENST00000444921.2_Missense_Mutation_p.S395F|GRM8_ENST00000358373.3_Missense_Mutation_p.S395F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.S395F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	395					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTGTTCATAAGATGAATCCCG	0.388										HNSCC(24;0.065)			False	0	False	7:126410092	0	A	126410092	G	A	126410092	3	1	123	1	0	0	0	0	1	0	0	0	6850	942	33	2	1612	2	GRM8	7	126410092	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	23449862	126410092	32728571	86	32120											
SSPO	23145	broad.mit.edu	37	chr7	149523658	149523658	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcctggctgtggctgccctGgagggcaggtgggtacgggg	21	9	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:149523658G>C	ENST00000378016.2	+	0	14572							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCTGCCCTGGAGGGCAGGT	0.672													False	0	False	7:149523658	0	C	149523658	G	C	149523658	1	2	123	0	1	0	0	0	0	0	0	0	15271	1349	47	5		5	SSPO	7	149523658	RNA	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	23113566	149523658	9615005	87	32121											
TMUB1	83590	broad.mit.edu	37	chr7	150779321	150779321	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccacctgctctgaatcattGaggaatttcagccgtagcac	9	12	3	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:150779321G>T	ENST00000392818.3	-	2	687	c.330C>A	c.(328-330)ctC>ctA	p.L110L	TMUB1_ENST00000482202.1_Silent_p.L110L|TMUB1_ENST00000297533.4_Silent_p.L110L|TMUB1_ENST00000462940.1_Silent_p.L110L|TMUB1_ENST00000476627.1_Silent_p.L110L	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	110	Ubiquitin-like.					cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGAATCATTGAGGAATTTCA	0.607													False	0	False	7:150779321	0	T	150779321	G	T	150779321	2	4	123	1	0	0	0	0	0	0	0	1	16346	1277	45	3		3	TMUB1	7	150779321	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1255663	150779321	8359342	88	32122											
SHH	6469	broad.mit.edu	37	chr7	155604784	155604784	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagcagcgaggagacgagGactagcagcagacatctcgc	13	12	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:155604784G>A	ENST00000297261.2	-	1	183	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	11					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGAGACGAGGACTAGCAGCA	0.657													False	0	False	7:155604784	0	A	155604784	G	A	155604784	2	1	123	1	0	0	0	0	0	0	0	1	14360	1161	41	2		2	SHH	7	155604784	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	4825463	155604784	3533879	89	32123											
PTPRN2	5799	broad.mit.edu	37	chr7	157926573	157926573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagatctttggaatacGtctggctcttgacgttctcc	9	12	4	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:157926573G>A	ENST00000389413.3	-	9	1455	c.1352C>T	c.(1351-1353)aCg>aTg	p.T451M	PTPRN2_ENST00000389416.4_Missense_Mutation_p.T434M|PTPRN2_ENST00000389418.4_Missense_Mutation_p.T451M|PTPRN2_ENST00000404321.2_Missense_Mutation_p.T474M|PTPRN2_ENST00000409483.1_Missense_Mutation_p.T413M	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	451						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TTTGGAATACGTCTGGCTCTT	0.612													False	0	False	7:157926573	0	A	157926573	G	A	157926573	3	1	123	1	0	0	0	0	1	0	0	0	12887	1145	40	1	1755	1	PTPRN2	7	157926573	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2321789	157926573	1212090	90	32124											
RP1L1	94137	broad.mit.edu	37	chr8	10470667	10470667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccgtcctcattcatgCggaccttcttcttcatgtca	8	14	6	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:10470667C>T	ENST00000382483.3	-	4	1164	c.941G>A	c.(940-942)cGc>cAc	p.R314H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	314					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCATTCATGCGGACCTTCTT	0.662													False	0	False	8:10470667	0	T	10470667	C	T	10470667	3	4	123	1	0	0	0	0	1	0	0	0	13612	768	27	1	6265	1	RP1L1	8	10470667	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		10470667	135893355	91	32125											
C8orf76	84933	broad.mit.edu	37	chr8	124253563	124253563	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtcctcgaactcgccgccGaacaaccagcacccggaatc	9	17	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:124253563G>A	ENST00000276704.4	-	1	75	c.24C>T	c.(22-24)ttC>ttT	p.F8F	ZHX1-C8ORF76_ENST00000357082.4_Intron|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	8							binding	p.F8L(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ACTCGCCGCCGAACAACCAGC	0.716													False	0	False	8:124253563	0	A	124253563	G	A	124253563	2	1	123	1	0	0	0	0	0	0	0	1	2457	1049	37	1		1	C8orf76	8	124253563	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	113782896	124253563	22110459	92	32126											
WISP1	8840	broad.mit.edu	37	chr8	134233083	134233083	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccgtgacacaggagccttCggtgggtgtgggcccgagtg	17	12	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:134233083C>T	ENST00000250160.6	+	3	715	c.609C>T	c.(607-609)ttC>ttT	p.F203F	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	203					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	p.F203F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CAGGAGCCTTCGGTGGGTGTG	0.632													False	0	True	8:134233083	0	T	134233083	C	T	134233083	5	4	123	1	0	0	0	0	0	0	1	0	17456	898	31	1	619	1	WISP1	8	134233083	Splice_Site	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9979520	134233083	12130939	93	32127											
PLEC	5339	broad.mit.edu	37	chr8	144993374	144993374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttcagtggcagaaggcGcaagcccgtctcggggtcct	13	14	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:144993374G>A	ENST00000322810.4	-	32	11195	c.11026C>T	c.(11026-11028)Cgc>Tgc	p.R3676C	PLEC_ENST00000356346.3_Missense_Mutation_p.R3525C|PLEC_ENST00000436759.2_Missense_Mutation_p.R3566C|PLEC_ENST00000527096.1_Missense_Mutation_p.R3562C|PLEC_ENST00000345136.3_Missense_Mutation_p.R3539C|PLEC_ENST00000357649.2_Missense_Mutation_p.R3543C|PLEC_ENST00000354958.2_Missense_Mutation_p.R3517C|PLEC_ENST00000398774.2_Missense_Mutation_p.R3507C|PLEC_ENST00000354589.3_Missense_Mutation_p.R3539C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3676	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCAGAAGGCGCAAGCCCGTC	0.597													False	0	False	8:144993374	0	A	144993374	G	A	144993374	3	1	123	1	0	0	0	0	1	0	0	0	12121	1087	38	1	3032	1	PLEC	8	144993374	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	10760291	144993374	1370648	94	32128											
CDKN2A	1029	broad.mit.edu	37	chr9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcccgggcagcgtcgtGcacgggtcgggtgagagtgg	19	12	0	1	rs121913385		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:21971111G>A	ENST00000579755.1	-	2	582	c.290C>T	c.(289-291)gCa>gTa	p.A97V	CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	False	9:21971111	0	A	21971111	G	A	21971111	3	1	123	1	0	0	0	0	1	0	0	0	3184	1319	46	2	231	2	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		21971111	119242320	95	32129											
MURC	347273	broad.mit.edu	37	chr9	103340638	103340638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaaatccgtccagattgaCctgttgaagctttcacagtc	7	10	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:103340638C>T	ENST00000307584.5	+	1	278	c.213C>T	c.(211-213)gaC>gaT	p.D71D		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	71					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TCCAGATTGACCTGTTGAAGC	0.418													False	0	False	9:103340638	0	T	103340638	C	T	103340638	2	4	123	1	0	0	0	0	0	0	0	1	10054	506	18	2		2	MURC	9	103340638	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	81369527	103340638	37872793	96	32130											
TNC	3371	broad.mit.edu	37	chr9	117791711	117791711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttggtagaagttctcgcGtccgtttttgcgtctcagga	12	8	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:117791711G>A	ENST00000350763.4	-	25	6508	c.6097C>T	c.(6097-6099)Cgc>Tgc	p.R2033C	TNC_ENST00000345230.3_Missense_Mutation_p.R1396C|TNC_ENST00000542877.1_Missense_Mutation_p.R1670C|TNC_ENST00000423613.2_Missense_Mutation_p.R1760C|TNC_ENST00000535648.1_Missense_Mutation_p.R1578C|TNC_ENST00000537320.1_Missense_Mutation_p.R1396C|TNC_ENST00000341037.4_Missense_Mutation_p.R1851C|TNC_ENST00000346706.3_Missense_Mutation_p.R1487C|TNC_ENST00000340094.3_Missense_Mutation_p.R1669C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2033	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AAGTTCTCGCGTCCGTTTTTG	0.463													False	0	False	9:117791711	0	A	117791711	G	A	117791711	3	1	123	1	0	0	0	0	1	0	0	0	16352	1145	40	1	524	1	TNC	9	117791711	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	14451073	117791711	23421720	97	32131											
OR1L4	254973	broad.mit.edu	37	chr9	125486388	125486388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgtacctactcactgcGgtggggaatgtgctcatcat	10	10	4	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:125486388G>A	ENST00000259466.1	+	1	120	c.120G>A	c.(118-120)gcG>gcA	p.A40A		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A40A(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TACTCACTGCGGTGGGGAATG	0.517													False	0	False	9:125486388	0	A	125486388	G	A	125486388	2	1	123	1	0	0	0	0	0	0	0	1	11033	1103	39	1		1	OR1L4	9	125486388	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	7694677	125486388	15727043	98	32132											
GOLGA1	2800	broad.mit.edu	37	chr9	127644234	127644234	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcattatcgggtctgattttCtgaaaaaccagtgggaaaga	10	6	3	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:127644234C>T	ENST00000373555.4	-	21	2299		c.e21-1			NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1							Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GTCTGATTTTCTGAAAAACCA	0.493													False	0	True	9:127644234	0	T	127644234	C	T	127644234	5	4	123	1	0	0	0	0	0	0	1	0	6596	927	32	2	350	2	GOLGA1	9	127644234	Splice_Site	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2157846	127644234	13569197	99	32133											
GLT6D1	360203	broad.mit.edu	37	chr9	138516323	138516326	+	Frame_Shift_Del	DEL	CATG	CATG	-													gtgttcacccaggctcttcaCatgcaccagggggccatcga					rs112815437		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	CATG	CATG	-	-	CATG	CATG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:138516323_138516326delCATG	ENST00000371763.1	-	5	701_704	c.448_451delCATG	c.(448-453)catgtgfs	p.HV150fs		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	150					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGGCTCTTCACATGCACCAGGGGG	0.564													False	1	False	9:138516323	0	-	138516326	CATG	-	138516323	7	5	123	1	0	1	0	1	0	0	0	0	6513	478	17	0	383	0	GLT6D1	9	138516323	Frame_Shift_Del	DEL	CATG	TCGA-OE-A75W-01A-12D-A32N-08	10872089	138516323	2697108	100	32134											
NOTCH1	4851	broad.mit.edu	37	chr9	139412298	139412298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcgttgacgtcgatctcGcatcgggggcccgtgtagcc	13	14	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:139412298G>A	ENST00000277541.6	-	8	1422	c.1347C>T	c.(1345-1347)tgC>tgT	p.C449C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	449	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTCGATCTCGCATCGGGGGC	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			False	0	False	9:139412298	0	A	139412298	G	A	139412298	2	1	123	1	0	0	0	0	0	0	0	1	10615	1079	38	1		1	NOTCH1	9	139412298	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	895975	139412298	1801133	101	32135											
PRKCQ	5588	broad.mit.edu	37	chr10	6470257	6470257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgatcagtgctctgtcgGcaaatgacagccggggcttc	13	10	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:6470257G>A	ENST00000263125.5	-	18	2132	c.2033C>T	c.(2032-2034)gCc>gTc	p.A678V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.A615V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.A553V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	678	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGCTCTGTCGGCAAATGACAG	0.458													False	0	False	10:6470257	0	A	6470257	G	A	6470257	3	1	123	1	0	0	0	0	1	0	0	0	12591	1203	42	2	91	2	PRKCQ	10	6470257	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		6470257	129064490	102	32136											
KIAA1217	56243	broad.mit.edu	37	chr10	24825794	24825794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttaaagacactaggtcggGcgccacagtgccacccaagg	12	13	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:24825794G>A	ENST00000376451.2	+	12	2815	c.2555G>A	c.(2554-2556)gGc>gAc	p.G852D	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G852D|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G1169D|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1133D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1134D|KIAA1217_ENST00000307544.6_Missense_Mutation_p.G852D			Q5T5P2	SKT_HUMAN	KIAA1217	1169					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACTAGGTCGGGCGCCACAGTG	0.512													False	0	True	10:24825794	0	A	24825794	G	A	24825794	3	1	123	1	0	0	0	0	1	0	0	0	8266	1203	42	2	3572	2	KIAA1217	10	24825794	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	18355537	24825794	110708953	103	32137											
RBP3	5949	broad.mit.edu	37	chr10	48387865	48387865	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatgcggtccttggcattctCagggatatgggctgccttca	12	10	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:48387865C>A	ENST00000224600.4	-	1	3126	c.3013G>T	c.(3013-3015)Gag>Tag	p.E1005*		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1005	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TTGGCATTCTCAGGGATATGG	0.597													False	0	False	10:48387865	0	A	48387865	C	A	48387865	4	1	123	1	0	0	0	0	0	1	0	0	13236	835	29	3	746	3	RBP3	10	48387865	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	23562071	48387865	87146882	104	32138											
ERCC6	2074	broad.mit.edu	37	chr10	50678629	50678629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaatttgaacattccccaTttccactaatcactgacaac	3	12	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:50678629T>C	ENST00000355832.5	-	18	3455	c.3377A>G	c.(3376-3378)aAt>aGt	p.N1126S	ERCC6_ENST00000542458.1_Missense_Mutation_p.N496S|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1126					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACATTCCCCATTTCCACTAAT	0.393								Direct reversal of damage;Nucleotide excision repair (NER)					False	0	True	10:50678629	0	C	50678629	T	C	50678629	3	2	123	1	0	0	0	0	1	0	0	0	5249	1493	52	4	1120	4	ERCC6	10	50678629	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	2290764	50678629	84856118	105	32139											
PCDH15	65217	broad.mit.edu	37	chr10	55570351	55570351	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcctcagcttcaccaaCcacctcaccatattcctcct	1	19	4	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:55570351C>A	ENST00000373965.2	-	35	4862	c.4468G>T	c.(4468-4470)Gtt>Ttt	p.V1490F	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.W1117C|PCDH15_ENST00000395445.1_Missense_Mutation_p.V1490F|PCDH15_ENST00000395438.1_Missense_Mutation_p.W1506C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.V1487F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTTCACCAACCACCTCACCA	0.373										HNSCC(58;0.16)			False	0	True	10:55570351	0	A	55570351	C	A	55570351	3	1	123	1	0	0	0	0	1	0	0	0	11579	508	18	3	1452	3	PCDH15	10	55570351	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	4891722	55570351	79964396	106	32140											
TMEM26	219623	broad.mit.edu	37	chr10	63170318	63170318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgaggaagttcttcgcgGcaaagaacaccagcatctga	10	12	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:63170318G>A	ENST00000399298.3	-	6	1237	c.869C>T	c.(868-870)gCc>gTc	p.A290V	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	290						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GTTCTTCGCGGCAAAGAACAC	0.502													False	0	False	10:63170318	0	A	63170318	G	A	63170318	3	1	123	1	0	0	0	0	1	0	0	0	16233	1203	42	2	241	2	TMEM26	10	63170318	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	7599967	63170318	72364429	107	32141											
CYP2C8	1558	broad.mit.edu	37	chr10	96802653	96802653	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaaacaagcttaccttgggGatgaggtagtttctgaactt	11	6	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:96802653G>T	ENST00000371270.3	-	7	1237	c.1143C>A	c.(1141-1143)atC>atA	p.I381I	CYP2C8_ENST00000539050.1_Silent_p.I295I|CYP2C8_ENST00000535898.1_Silent_p.I279I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	381					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTACCTTGGGGATGAGGTAGT	0.453													False	0	True	10:96802653	0	T	96802653	G	T	96802653	2	4	123	1	0	0	0	0	0	0	0	1	4192	1164	41	3		3	CYP2C8	10	96802653	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	33632335	96802653	38732094	108	32142											
CCDC147	159686	broad.mit.edu	37	chr10	106118265	106118265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttatgacaatgaaaagcGtctgatggccaaatgcagag	11	7	2	4			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:106118265G>A	ENST00000369704.3	+	2	310	c.176G>A	c.(175-177)cGt>cAt	p.R59H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	59										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AATGAAAAGCGTCTGATGGCC	0.423													False	0	False	10:106118265	0	A	106118265	G	A	106118265	3	1	123	1	0	0	0	0	1	0	0	0	2801	1145	40	1	182	1	CCDC147	10	106118265	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	9315612	106118265	29416482	109	32143											
ATRNL1	26033	broad.mit.edu	37	chr10	117154220	117154220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctgcacacaggaaaatGtttctgcacaactaaaggaa	7	9	3	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:117154220G>A	ENST00000355044.3	+	20	3353	c.3227G>A	c.(3226-3228)tGt>tAt	p.C1076Y	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.C127Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1076	Laminin EGF-like 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACAGGAAAATGTTTCTGCACA	0.343													False	0	True	10:117154220	0	A	117154220	G	A	117154220	3	1	123	1	0	0	0	0	1	0	0	0	1211	1377	48	2	3305	2	ATRNL1	10	117154220	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	11035955	117154220	18380527	110	32144											
BAG3	9531	broad.mit.edu	37	chr10	121436034	121436035	+	Frame_Shift_Ins	INS	-	-	ATATTTTTAATAACTGACTGAAAGTCACAGAAATTGTTTGTAGC													cctgaaaacaaaccagaaagINStaagccaggcccagttggac							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:121436034_121436035insATATTTTTAATAACTGACTGAAAGTCACAGAAATTGTTTGTAGC	ENST00000369085.3	+	4	1274_1275	c.968_969insATATTTTTAATAACTGACTGAAAGTCACAGAAATTGTTTGTAGC	c.(967-972)agtaagfs	p.SK323fs		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	323					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AAACCAGAAAGTAAGCCAGGCC	0.465													False	0	False	10:121436034	0	ATATTTTTAATAACTGACTGAAAGTCACAGAAATTGTTTGTAGC	121436035	-	ATATTTTTAATAACTGACTGAAAGTCACAGAAATTGTTTGTAGC	121436034	7	5	123	1	0	1	1	0	0	0	0	0	1292	1029	36	0	982	0	BAG3	10	121436034	Frame_Shift_Ins	INS	-	TCGA-OE-A75W-01A-12D-A32N-08	4281814	121436034	14098713	111	32145											
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	18	8	0	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:281566A>G	ENST00000534750.1	+	4	2037	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662													False	0	True	11:281566	0	G	281566	A	G	281566	3	3	123	1	0	0	0	0	1	0	0	0	10549	304	11	4	1846	4	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08		281566	134724950	112	32146											
PTDSS2	81490	broad.mit.edu	37	chr11	473950	473950	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggagtcacacaagctaaaGacgggccattttccagacct	9	11	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:473950G>A	ENST00000308020.5	+	3	516	c.340G>A	c.(340-342)Gac>Aac	p.D114N	PTDSS2_ENST00000530087.1_3'UTR	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	114						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	ACAAGCTAAAGACGGGCCATT	0.483													False	0	True	11:473950	0	A	473950	G	A	473950	3	1	123	1	0	0	0	0	1	0	0	0	12813	942	33	2	350	2	PTDSS2	11	473950	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	192384	473950	134532566	113	32147											
OR51A2	401667	broad.mit.edu	37	chr11	4976514	4976514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatactatccctatttgggCaactctgacagttgtcagga	9	9	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:4976514C>T	ENST00000380371.1	-	1	429	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTATTTGGGCAACTCTGACA	0.423													False	0	True	11:4976514	0	T	4976514	C	T	4976514	3	4	123	1	0	0	0	0	1	0	0	0	11154	710	25	2	513	2	OR51A2	11	4976514	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	4502564	4976514	130030002	114	32148											
PPFIA1	8500	broad.mit.edu	37	chr11	70202344	70202345	+	Frame_Shift_Ins	INS	-	-	AGCATGACAAAGCTCTATGTTTTCATAAATAGGCAGATGAATATTTGCAG													gggacaggctgaaaaaaatcINSgtaaacttcaaaaaaagtaa							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:70202344_70202345insAGCATGACAAAGCTCTATGTTTTCATAAATAGGCAGATGAATATTTGCAG	ENST00000253925.7	+	19	2781_2782	c.2566_2567insAGCATGACAAAGCTCTATGTTTTCATAAATAGGCAGATGAATATTTGCAG	c.(2566-2568)cgtfs	p.R856fs	PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.R856fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	856					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAAAAAAATCGTAAACTTCAA	0.401													False	0	False	11:70202344	0	AGCATGACAAAGCTCTATGTTTTCATAAATAGGCAGATGAATATTTGCAG	70202345	-	AGCATGACAAAGCTCTATGTTTTCATAAATAGGCAGATGAATATTTGCAG	70202344	7	5	123	1	0	1	1	0	0	0	0	0	12378	884	31	0	2636	0	PPFIA1	11	70202344	Frame_Shift_Ins	INS	-	TCGA-OE-A75W-01A-12D-A32N-08	65225830	70202344	64804172	115	32149											
SHANK2	22941	broad.mit.edu	37	chr11	70333392	70333392	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcctggcgggcttggcgggGacgtagacggctttgctggc	19	11	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:70333392G>A	ENST00000338508.4	-	32	3008	c.3009C>T	c.(3007-3009)gtC>gtT	p.V1003V	SHANK2_ENST00000423696.2_Silent_p.V623V|SHANK2_ENST00000409161.1_Silent_p.V406V|SHANK2_ENST00000449833.2_Silent_p.V407V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	623					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTTGGCGGGGACGTAGACGG	0.617													False	0	True	11:70333392	0	A	70333392	G	A	70333392	2	1	123	1	0	0	0	0	0	0	0	1	14346	1161	41	2		2	SHANK2	11	70333392	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	131048	70333392	64673124	116	32150											
NADSYN1	55191	broad.mit.edu	37	chr11	71194032	71194032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccaggagacgtgcaccCgggccagagagttggcccag	14	15	0	2	rs149234649		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:71194032C>T	ENST00000319023.2	+	14	1476	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000539574.1_Missense_Mutation_p.R170W|NADSYN1_ENST00000530055.1_Missense_Mutation_p.R59W	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	430	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	p.R430M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GACGTGCACCCGGGCCAGAGA	0.607													False	0	True	11:71194032	0	T	71194032	C	T	71194032	3	4	123	1	0	0	0	0	1	0	0	0	10205	643	23	1	1342	1	NADSYN1	11	71194032	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	860640	71194032	63812484	117	32151											
ME3	10873	broad.mit.edu	37	chr11	86158183	86158183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggcaaagatgatagggCgctcgtggaaggaggccatg	17	7	1	2	rs15926		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:86158183C>T	ENST00000543262.1	-	12	1630	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	ME3_ENST00000393324.3_Missense_Mutation_p.R435H|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.R435H	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	435					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GATGATAGGGCGCTCGTGGAA	0.622													False	0	True	11:86158183	0	T	86158183	C	T	86158183	3	4	123	1	0	0	0	0	1	0	0	0	9486	768	27	1	526	1	ME3	11	86158183	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	14964151	86158183	48848333	118	32152											
KIAA1377	57562	broad.mit.edu	37	chr11	101833633	101833633	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaaggaaaaaggtgcagaaAttccaaagaccattaaaaaa	7	6	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:101833633A>T	ENST00000263468.8	+	6	2137	c.1867A>T	c.(1867-1869)Att>Ttt	p.I623F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.I424F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	623							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGGTGCAGAAATTCCAAAGAC	0.318													False	0	True	11:101833633	0	T	101833633	A	T	101833633	3	4	123	1	0	0	0	0	1	0	0	0	8277	101	4	5	1889	5	KIAA1377	11	101833633	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	15675450	101833633	33172883	119	32153											
ELMOD1	55531	broad.mit.edu	37	chr11	107506439	107506439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatgtggaaaaactgcGtagagaggcctatgattctg	13	6	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:107506439G>A	ENST00000265840.7	+	6	633	c.368G>A	c.(367-369)cGt>cAt	p.R123H	ELMOD1_ENST00000531234.1_Missense_Mutation_p.R117H|ELMOD1_ENST00000443271.2_Missense_Mutation_p.R123H	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	123					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GAAAAACTGCGTAGAGAGGCC	0.433													False	0	False	11:107506439	0	A	107506439	G	A	107506439	3	1	123	1	0	0	0	0	1	0	0	0	5100	1145	40	1	386	1	ELMOD1	11	107506439	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	5672806	107506439	27500077	120	32154											
ACRV1	56	broad.mit.edu	37	chr11	125548083	125548083	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagaagtctcatataaAgcctcagcatcagaagggtt	9	9	3	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:125548083A>G	ENST00000533904.1	-	2	504	c.162T>C	c.(160-162)gcT>gcC	p.A54A	ACRV1_ENST00000530048.1_Intron|ACRV1_ENST00000315608.3_Silent_p.A54A|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000527795.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000445562.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	54					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TCTCATATAAAGCCTCAGCAT	0.463													False	0	True	11:125548083	0	G	125548083	A	G	125548083	2	3	123	1	0	0	0	0	0	0	0	1	172	59	3	4		4	ACRV1	11	125548083	Silent	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	18041644	125548083	9458433	121	32155											
NTF3	4908	broad.mit.edu	37	chr12	5603958	5603958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacaatatttttatgaaaCgcgatgtaaggaagccaggc	9	7	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:5603958C>T	ENST00000423158.3	+	2	829	c.617C>T	c.(616-618)aCg>aTg	p.T206M	NTF3_ENST00000331010.6_Missense_Mutation_p.T193M|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	193					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TTTTATGAAACGCGATGTAAG	0.507													False	0	True	12:5603958	0	T	5603958	C	T	5603958	3	4	123	1	0	0	0	0	1	0	0	0	10764	536	19	1	623	1	NTF3	12	5603958	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		5603958	128247937	122	32156											
LRP6	4040	broad.mit.edu	37	chr12	12300383	12300383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctatcaagggctaaagcaAttggtttacttaagccactg	9	8	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:12300383A>G	ENST00000261349.4	-	15	3390	c.3314T>C	c.(3313-3315)aTt>aCt	p.I1105T	LRP6_ENST00000543091.1_Missense_Mutation_p.I1105T	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1105	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGCTAAAGCAATTGGTTTACT	0.453													False	0	False	12:12300383	0	G	12300383	A	G	12300383	3	3	123	1	0	0	0	0	1	0	0	0	9024	101	4	4	1563	4	LRP6	12	12300383	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	6696425	12300383	121551512	123	32157											
GUCY2C	2984	broad.mit.edu	37	chr12	14766211	14766211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaaattctgcttgcaaaCgctgttgattctccctggaa	8	10	2	2	rs118078831		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:14766211C>T	ENST00000261170.3	-	27	3198	c.3062G>A	c.(3061-3063)cGt>cAt	p.R1021H	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1021					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGCTTGCAAACGCTGTTGATT	0.413													False	0	True	12:14766211	0	T	14766211	C	T	14766211	3	4	123	1	0	0	0	0	1	0	0	0	6943	536	19	1	163	1	GUCY2C	12	14766211	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2465828	14766211	119085684	124	32158											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	123	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	10632073	25398284	108453611	125	32159											
PPFIBP1	8496	broad.mit.edu	37	chr12	27832529	27832529	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agataccgcctccatctccaGattccaaaaagaaatccaga	5	13	1	4			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:27832529G>C	ENST00000318304.8	+	19	2024	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D428H|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D550H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D575H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	581					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCCATCTCCAGATTCCAAAAA	0.443													False	0	False	12:27832529	0	C	27832529	G	C	27832529	3	2	123	1	0	0	0	0	1	0	0	0	12382	942	33	5	1835	5	PPFIBP1	12	27832529	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2434245	27832529	106019366	126	32160											
NELL2	4753	broad.mit.edu	37	chr12	45169879	45169879	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttcccttcatggtgcaagTcctttcacaatagcactgat	8	11	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:45169879T>A	ENST00000429094.2	-	8	1321	c.817A>T	c.(817-819)Act>Tct	p.T273S	NELL2_ENST00000333837.4_Missense_Mutation_p.T296S|NELL2_ENST00000551601.1_Missense_Mutation_p.T272S|NELL2_ENST00000437801.2_Missense_Mutation_p.T323S|NELL2_ENST00000395487.2_Missense_Mutation_p.T272S|NELL2_ENST00000549027.1_Missense_Mutation_p.T272S|NELL2_ENST00000452445.2_Missense_Mutation_p.T273S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	273	VWFC 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATGGTGCAAGTCCTTTCACAA	0.458													False	0	False	12:45169879	0	A	45169879	T	A	45169879	3	1	123	1	0	0	0	0	1	0	0	0	10402	1667	58	5	1685	5	NELL2	12	45169879	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	17337350	45169879	88682016	127	32161											
ANO6	196527	broad.mit.edu	37	chr12	45814920	45814920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actactggtccttctccgtcCctccctacggggaccacact	7	18	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:45814920C>T	ENST00000320560.8	+	18	2486	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	ANO6_ENST00000423947.3_Missense_Mutation_p.P783S|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.P762S|ANO6_ENST00000441606.2_Missense_Mutation_p.P744S|ANO6_ENST00000425752.2_Missense_Mutation_p.P762S	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	762					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTCTCCGTCCCTCCCTACGG	0.473													False	0	True	12:45814920	0	T	45814920	C	T	45814920	3	4	123	1	0	0	0	0	1	0	0	0	701	623	22	2	2374	2	ANO6	12	45814920	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	645041	45814920	88036975	128	32162											
RAPGEF3	10411	broad.mit.edu	37	chr12	48134500	48134500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagacacagctcggtgGccacccagtactgcagctca	12	14	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:48134500G>A	ENST00000405493.2	-	21	2239	c.2030C>T	c.(2029-2031)gCc>gTc	p.A677V	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A719V|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.A719V|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A677V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A677V|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A628V	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	677					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CAGCTCGGTGGCCACCCAGTA	0.652													False	0	False	12:48134500	0	A	48134500	G	A	48134500	3	1	123	1	0	0	0	0	1	0	0	0	13124	1203	42	2	647	2	RAPGEF3	12	48134500	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2319580	48134500	85717395	129	32163											
GALNT6	11226	broad.mit.edu	37	chr12	51749736	51749736	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtccctctgagttgtgtactCaaagtactggaaatcaagac	9	9	3	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:51749736C>G	ENST00000543196.2	-	10	1814	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	GALNT6_ENST00000356317.3_Missense_Mutation_p.E537Q			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	537	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTTGTGTACTCAAAGTACTGG	0.547													False	0	True	12:51749736	0	G	51749736	C	G	51749736	3	3	123	1	0	0	0	0	1	0	0	0	6260	835	29	5	267	5	GALNT6	12	51749736	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3615236	51749736	82102159	130	32164											
HOXC11	3227	broad.mit.edu	37	chr12	54367152	54367152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgcacttactacatgcccGagttctccacggtctcctcc	7	16	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:54367152G>A	ENST00000546378.1	+	1	243	c.127G>A	c.(127-129)Gag>Aag	p.E43K	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.E43K			O43248	HXC11_HUMAN	homeobox C11	43					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CTACATGCCCGAGTTCTCCAC	0.642			T	NUP98	AML								False	0	True	12:54367152	0	A	54367152	G	A	54367152	3	1	123	1	0	0	0	0	1	0	0	0	7357	1059	37	1	129	1	HOXC11	12	54367152	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2617416	54367152	79484743	131	32165											
LRIG3	121227	broad.mit.edu	37	chr12	59267907	59267907	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaatctaaagaggacttgttTagacacagatttttcattcc	6	7	2	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:59267907T>A	ENST00000320743.3	-	18	3331	c.3045A>T	c.(3043-3045)ctA>ctT	p.L1015L	LRIG3_ENST00000379141.4_Silent_p.L955L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1015						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGGACTTGTTTAGACACAGAT	0.408			T	ROS1	NSCLC								False	0	True	12:59267907	0	A	59267907	T	A	59267907	2	1	123	1	0	0	0	0	0	0	0	1	9008	1741	61	5		5	LRIG3	12	59267907	Silent	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	4900755	59267907	74583988	132	32166											
MGAT4C	25834	broad.mit.edu	37	chr12	86374022	86374022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgcaataatatggtgcGcaaatttctgtgtaatatcc	7	8	1	0	rs140499591		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:86374022G>A	ENST00000604798.1	-	8	1686	c.482C>T	c.(481-483)gCg>gTg	p.A161V	MGAT4C_ENST00000332156.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000393205.2_Missense_Mutation_p.A190V|MGAT4C_ENST00000549405.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000552808.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000548651.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	161					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AATATGGTGCGCAAATTTCTG	0.403													False	0	False	12:86374022	0	A	86374022	G	A	86374022	3	1	123	1	0	0	0	0	1	0	0	0	9614	1087	38	1	958	1	MGAT4C	12	86374022	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	27106115	86374022	47477873	133	32167											
KIAA1033	23325	broad.mit.edu	37	chr12	105558036	105558037	+	Frame_Shift_Ins	INS	-	-	AAGGTTAAATTACAGTGAGTACAGAAGTGGTATTCTACTC													gccagtcaagatgaaaaactINScttacaaaccatgaatctca					rs61733563	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:105558036_105558037insAAGGTTAAATTACAGTGAGTACAGAAGTGGTATTCTACTC	ENST00000332180.5	+	31	3392_3393	c.3305_3306insAAGGTTAAATTACAGTGAGTACAGAAGTGGTATTCTACTC	c.(3304-3309)ctcttafs	p.-1101fs	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033						endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GATGAAAAACTCTTACAAACCA	0.421													False	0	False	12:105558036	0	AAGGTTAAATTACAGTGAGTACAGAAGTGGTATTCTACTC	105558037	-	AAGGTTAAATTACAGTGAGTACAGAAGTGGTATTCTACTC	105558036	7	5	123	1	0	1	1	0	0	0	0	0	8256	1551	54	0	3427	0	KIAA1033	12	105558036	Frame_Shift_Ins	INS	-	TCGA-OE-A75W-01A-12D-A32N-08	19184014	105558036	28293859	134	32168											
TBX5	6910	broad.mit.edu	37	chr12	114839668	114839668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcatttccgtgcccacttCgtggaattttagccacagtt	8	11	1	0	rs104894377		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:114839668C>T	ENST00000310346.4	-	3	871	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	TBX5_ENST00000526441.1_Missense_Mutation_p.E69K|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Missense_Mutation_p.E19K|TBX5_ENST00000405440.2_Missense_Mutation_p.E69K	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	69					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.E69K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTGCCCACTTCGTGGAATTTT	0.463													False	0	False	12:114839668	0	T	114839668	C	T	114839668	3	4	123	1	0	0	0	0	1	0	0	0	15743	893	31	1	1446	1	TBX5	12	114839668	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9281632	114839668	19012227	135	32169											
CAMKK2	10645	broad.mit.edu	37	chr12	121698198	121698198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataggcaggagacggatggcGggggagaaaaagagagaata	18	3	0	4			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:121698198G>A	ENST00000545538.1	-	1	147	c.81C>T	c.(79-81)ccC>ccT	p.P27P	CAMKK2_ENST00000337174.3_Intron|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000404169.3_Intron|CAMKK2_ENST00000324774.5_Intron|CAMKK2_ENST00000446440.2_Intron|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000412367.2_Intron|CAMKK2_ENST00000392473.2_Intron|CAMKK2_ENST00000347034.2_Intron|CAMKK2_ENST00000402834.4_Intron			Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	0					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACGGATGGCGGGGGAGAAAA	0.552													False	0	True	12:121698198	0	A	121698198	G	A	121698198	2	1	123	1	0	0	0	0	0	0	0	1	2627	1131	39	1		1	CAMKK2	12	121698198	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	6858530	121698198	12153697	136	32170											
MORN3	283385	broad.mit.edu	37	chr12	122091031	122091031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctcgtcacggccaaagtCgatcatcgtcccgcatttgg	11	14	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:122091031C>T	ENST00000355329.3	-	4	768	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	200								p.D200Y(1)		breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CGGCCAAAGTCGATCATCGTC	0.607													False	0	False	12:122091031	0	T	122091031	C	T	122091031	3	4	123	1	0	0	0	0	1	0	0	0	9776	884	31	1	132	1	MORN3	12	122091031	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	392833	122091031	11760864	137	32171											
CLIP1	6249	broad.mit.edu	37	chr12	122825973	122825973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaagcttttccgtggcgGtatacagagcctttatctcc	10	10	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:122825973G>A	ENST00000358808.2	-	10	1899	c.1745C>T	c.(1744-1746)aCc>aTc	p.T582I	CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I|CLIP1_ENST00000537178.1_Missense_Mutation_p.T547I|CLIP1_ENST00000540338.1_Missense_Mutation_p.T593I|CLIP1_ENST00000302528.7_Missense_Mutation_p.T582I|CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	593					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCCGTGGCGGTATACAGAGC	0.458													False	0	False	12:122825973	0	A	122825973	G	A	122825973	3	1	123	1	0	0	0	0	1	0	0	0	3555	1261	44	2	2602	2	CLIP1	12	122825973	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	734942	122825973	11025922	138	32172											
PITPNM2	57605	broad.mit.edu	37	chr12	123470864	123470864	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtggctgtacttcagctGcgccaggtgggccgcgtagc	16	13	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:123470864G>A	ENST00000280562.5	-	25	3947	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*	PITPNM2_ENST00000542749.1_Nonsense_Mutation_p.Q1254*|PITPNM2_ENST00000392428.1_Nonsense_Mutation_p.Q975*|PITPNM2_ENST00000320201.4_Nonsense_Mutation_p.Q1254*			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TACTTCAGCTGCGCCAGGTGG	0.726													False	0	False	12:123470864	0	A	123470864	G	A	123470864	4	1	123	1	0	0	0	0	0	1	0	0	12020	1328	46	2	293	2	PITPNM2	12	123470864	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	644891	123470864	10381031	139	32173											
DNAH10	196385	broad.mit.edu	37	chr12	124332557	124332557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccggcccagcaggaaccgGcaaaaccgagaccaccaagg	12	16	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:124332557G>A	ENST00000409039.3	+	32	5535	c.5510G>A	c.(5509-5511)gGc>gAc	p.G1837D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1837	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAGGAACCGGCAAAACCGAG	0.552													False	0	False	12:124332557	0	A	124332557	G	A	124332557	3	1	123	1	0	0	0	0	1	0	0	0	4628	1203	42	2	5636	2	DNAH10	12	124332557	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	861693	124332557	9519338	140	32174											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20221309	20221309	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgcctaaaaagcagaggaatCaagacagaagcaaaagtgct	10	7	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:20221309C>G	ENST00000361479.5	+	3	1164	c.1096C>G	c.(1096-1098)Caa>Gaa	p.Q366E	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.Q366E	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	366					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GCAGAGGAATCAAGACAGAAG	0.502													False	0	False	13:20221309	0	G	20221309	C	G	20221309	3	3	123	1	0	0	0	0	1	0	0	0	9794	827	29	5	1106	5	MPHOSPH8	13	20221309	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		20221309	94948569	141	32175											
SPG20	23111	broad.mit.edu	37	chr13	36886315	36886315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtacagtttctgctgaaAcattgttaacgatgcattta	7	6	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:36886315A>G	ENST00000451493.1	-	8	1917	c.1700T>C	c.(1699-1701)gTt>gCt	p.V567A	SPG20_ENST00000355182.4_Missense_Mutation_p.V567A|SPG20_ENST00000438666.2_Missense_Mutation_p.V567A|SPG20_ENST00000494062.2_Missense_Mutation_p.V567A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	567					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTCTGCTGAAACATTGTTAAC	0.323													False	0	True	13:36886315	0	G	36886315	A	G	36886315	3	3	123	1	0	0	0	0	1	0	0	0	15124	43	2	4	308	4	SPG20	13	36886315	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	16665006	36886315	78283563	142	32176											
SMAD9	4093	broad.mit.edu	37	chr13	37453546	37453546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccggccagcgccacacgCgacagtaaatcacatggggc	12	14	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:37453546C>T	ENST00000379826.4	-	2	623	c.281G>A	c.(280-282)cGc>cAc	p.R94H	SMAD9_ENST00000350148.5_Missense_Mutation_p.R94H|SMAD9_ENST00000399275.2_Missense_Mutation_p.R94H	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	94	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCGCCACACGCGACAGTAAAT	0.627													False	0	False	13:37453546	0	T	37453546	C	T	37453546	3	4	123	1	0	0	0	0	1	0	0	0	14844	768	27	1	1146	1	SMAD9	13	37453546	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	567231	37453546	77716332	143	32177											
PCID2	55795	broad.mit.edu	37	chr13	113839829	113839829	+	Silent	SNP	C	C	A													attttaaacagctggttcacCagaaacagcatgccccactt							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:113839829C>A	ENST00000375457.2	-	8	1103	c.507G>T	c.(505-507)ctG>ctT	p.L169L	PCID2_ENST00000375459.1_Silent_p.L169L|PCID2_ENST00000375479.2_Silent_p.L171L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375477.1_Silent_p.L171L|PCID2_ENST00000337344.4_Silent_p.L171L|PCID2_ENST00000246505.5_Silent_p.L225L	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	171					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GCTGGTTCACCAGAAACAGCA	0.353													False	0	False	13:113839829	0	A	113839829	C	A	113839829	2	1	123	1	0	0	0	0	0	0	0	1	11647	581	21	3		3	PCID2	13	113839829	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	76386283	113839829	1330049	144	32178	377	2									
PCID2	55795	broad.mit.edu	37	chr13	113839831	113839831	+	Silent	SNP	G	G	A													tttaaacagctggttcaccaGaaacagcatgccccacttct							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:113839831G>A	ENST00000375457.2	-	8	1101	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	PCID2_ENST00000375459.1_Silent_p.L169L|PCID2_ENST00000375479.2_Silent_p.L171L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375477.1_Silent_p.L171L|PCID2_ENST00000337344.4_Silent_p.L171L|PCID2_ENST00000246505.5_Silent_p.L225L	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	171					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TGGTTCACCAGAAACAGCATG	0.353													False	0	True	13:113839831	0	A	113839831	G	A	113839831	2	1	123	1	0	0	0	0	0	0	0	1	11647	933	33	2		2	PCID2	13	113839831	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2	113839831	1330047	145	32179	377	2									
NOVA1	4857	broad.mit.edu	37	chr14	26917998	26917998	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataagttcaacagcttttcGgttttgttcaggttctccac	8	9	3	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:26917998G>A	ENST00000539517.2	-	5	1008	c.691C>T	c.(691-693)Cga>Tga	p.R231*	NOVA1_ENST00000267422.7_Nonsense_Mutation_p.R109*|NOVA1_ENST00000465357.2_Nonsense_Mutation_p.R207*	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	234	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ACAGCTTTTCGGTTTTGTTCA	0.473													False	0	False	14:26917998	0	A	26917998	G	A	26917998	4	1	123	1	0	0	0	0	0	1	0	0	10622	1124	39	1	836	1	NOVA1	14	26917998	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		26917998	80431542	146	32180											
EXOC5	10640	broad.mit.edu	37	chr14	57698379	57698379	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ataagcttagacaagaaagtCtgtttatcagtacctaaatt	6	6	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:57698379C>G	ENST00000413566.2	-	11	1352	c.993G>C	c.(991-993)caG>caC	p.Q331H	EXOC5_ENST00000340918.7_Missense_Mutation_p.Q266H	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	331					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ACAAGAAAGTCTGTTTATCAG	0.343													False	0	False	14:57698379	0	G	57698379	C	G	57698379	3	3	123	1	0	0	0	0	1	0	0	0	5339	912	32	5	1165	5	EXOC5	14	57698379	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	30780381	57698379	49651161	147	32181											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055165	72055165	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatagctttgatgaatgtatCtcacctacatacaagactgg	8	8	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055165C>G	ENST00000555818.1	+	2	924	c.576C>G	c.(574-576)atC>atG	p.I192M	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.I192M|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.I192M	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	192					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATGAATGTATCTCACCTACAT	0.433													False	0	False	14:72055165	0	G	72055165	C	G	72055165	3	3	123	1	0	0	0	0	1	0	0	0	14410	903	32	5	578	5	SIPA1L1	14	72055165	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	14356786	72055165	35294375	148	32182			1	20		4	3	357	N	C	2.903223e-06
SIPA1L1	26037	broad.mit.edu	37	chr14	72055191	72055191	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacatacaagactggaccatCactgcacagggaatatggta	9	9	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055191C>G	ENST00000555818.1	+	2	950	c.602C>G	c.(601-603)tCa>tGa	p.S201*	SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S201*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S201*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	201					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGACCATCACTGCACAGG	0.403													False	0	False	14:72055191	0	G	72055191	C	G	72055191	4	3	123	1	0	0	0	0	0	1	0	0	14410	838	29	5	604	5	SIPA1L1	14	72055191	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	26	72055191	35294349	149	32183			1	20		4	3	357	N	C	2.903223e-06
SIPA1L1	26037	broad.mit.edu	37	chr14	72055518	72055518	+	Missense_Mutation	SNP	C	C	T													aggtgaagaacttgggaagtCatcagatcttgaagataacc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055518C>T	ENST00000555818.1	+	2	1277	c.929C>T	c.(928-930)tCa>tTa	p.S310L	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S310L|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S310L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	310					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTTGGGAAGTCATCAGATCTT	0.418													False	0	False	14:72055518	0	T	72055518	C	T	72055518	3	4	123	1	0	0	0	0	1	0	0	0	14410	838	29	2	931	2	SIPA1L1	14	72055518	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	327	72055518	35294022	150	32184	378	2	1	20		4	3	357	N	C	2.903223e-06
SIPA1L1	26037	broad.mit.edu	37	chr14	72055521	72055521	+	Nonsense_Mutation	SNP	C	C	A													tgaagaacttgggaagtcatCagatcttgaagataaccgat							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055521C>A	ENST00000555818.1	+	2	1280	c.932C>A	c.(931-933)tCa>tAa	p.S311*	SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S311*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S311*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	311					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGGAAGTCATCAGATCTTGAA	0.413													False	0	False	14:72055521	0	A	72055521	C	A	72055521	4	1	123	1	0	0	0	0	0	1	0	0	14410	838	29	3	934	3	SIPA1L1	14	72055521	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3	72055521	35294019	151	32185	378	2	1	20		4	3	357	N	C	2.903223e-06
PAPLN	89932	broad.mit.edu	37	chr14	73732116	73732116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccccgggtggtggatgCcagtccaggccagcggatcc	15	15	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:73732116C>T	ENST00000427855.1	+	23	3266	c.3164C>T	c.(3163-3165)gCc>gTc	p.A1055V	PAPLN_ENST00000554301.1_Missense_Mutation_p.A1055V|PAPLN_ENST00000340738.5_Missense_Mutation_p.A1028V|PAPLN_ENST00000555445.1_Missense_Mutation_p.A1039V|PAPLN_ENST00000381166.3_Missense_Mutation_p.A1055V			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1055	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTGGTGGATGCCAGTCCAGGC	0.667													False	0	False	14:73732116	0	T	73732116	C	T	73732116	3	4	123	1	0	0	0	0	1	0	0	0	11496	739	26	2	3165	2	PAPLN	14	73732116	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1676595	73732116	33617424	152	32186											
NIPA2	81614	broad.mit.edu	37	chr15	23006789	23006789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtttgtctgtccatggCgaggacccaccacgaagatt	11	10	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:23006789C>T	ENST00000337451.3	-	8	1127	c.515G>A	c.(514-516)cGc>cAc	p.R172H	NIPA2_ENST00000398014.2_Missense_Mutation_p.R172H|NIPA2_ENST00000539711.2_Missense_Mutation_p.R153H|NIPA2_ENST00000359727.4_Missense_Mutation_p.R153H|NIPA2_ENST00000398013.3_Missense_Mutation_p.R172H	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	172						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CTGTCCATGGCGAGGACCCAC	0.468													False	0	False	15:23006789	0	T	23006789	C	T	23006789	3	4	123	1	0	0	0	0	1	0	0	0	10491	768	27	1	571	1	NIPA2	15	23006789	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		23006789	79524603	153	32187											
TJP1	7082	broad.mit.edu	37	chr15	30001114	30001114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctggaaaacttttctggGgatagaaagctgcctgagca	11	7	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:30001114G>A	ENST00000346128.6	-	25	4973	c.4499C>T	c.(4498-4500)cCc>cTc	p.P1500L	TJP1_ENST00000545208.2_Missense_Mutation_p.P1420L|TJP1_ENST00000356107.6_Missense_Mutation_p.P1500L|TJP1_ENST00000400011.2_Missense_Mutation_p.P1424L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1500					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACTTTTCTGGGGATAGAAAGC	0.438													False	0	True	15:30001114	0	A	30001114	G	A	30001114	3	1	123	1	0	0	0	0	1	0	0	0	16011	1232	43	2	763	2	TJP1	15	30001114	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	6994325	30001114	72530278	154	32188											
VPS18	57617	broad.mit.edu	37	chr15	41192857	41192857	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagcttgtagatgcctGgattgagatgggcagccggc	15	11	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:41192857G>A	ENST00000220509.5	+	4	2180	c.1841G>A	c.(1840-1842)tGg>tAg	p.W614*	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	614					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTAGATGCCTGGATTGAGATG	0.637													False	0	False	15:41192857	0	A	41192857	G	A	41192857	4	1	123	1	0	0	0	0	0	1	0	0	17278	1357	47	2	1855	2	VPS18	15	41192857	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	11191743	41192857	61338535	155	32189											
TYRO3	7301	broad.mit.edu	37	chr15	41860561	41860562	+	Splice_Site	INS	-	-	A													tcaagacaatggaacccaggINStaagacagaaccctcccctc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:41860561_41860562insA	ENST00000263798.3	+	8	1331		c.e8+1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGAACCCAGGTAAGACAGAAC	0.53													False	0	False	15:41860561	0	A	41860562	-	A	41860561	8	5	123	1	0	1	1	0	0	0	1	0	16898	1275	44	0	1138	0	TYRO3	15	41860561	Splice_Site	INS	-	TCGA-OE-A75W-01A-12D-A32N-08	667704	41860561	60670831	156	32190											
SEMA6D	80031	broad.mit.edu	37	chr15	48060897	48060897	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaaatttgtagttcaagatGatccaaacacttctgatttt	7	6	2	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:48060897G>A	ENST00000316364.5	+	18	2324	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D629N|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D610N|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000389432.2_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	629					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGTTCAAGATGATCCAAACAC	0.433													False	0	False	15:48060897	0	A	48060897	G	A	48060897	3	1	123	1	0	0	0	0	1	0	0	0	14123	1290	45	2	1994	2	SEMA6D	15	48060897	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	6200336	48060897	54470495	157	32191											
FGF7	2252	broad.mit.edu	37	chr15	49776572	49776572	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccattacaacacatatgcAtcagctaaatggacacacaa	4	11	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.A152A(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ACACATATGCATCAGCTAAAT	0.338													False	0	False	15:49776572	0	C	49776572	A	C	49776572	2	2	123	1	0	0	0	0	0	0	0	1	5897	204	8	4		4	FGF7	15	49776572	Silent	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	1715675	49776572	52754820	158	32192											
CYP19A1	0	broad.mit.edu	37	chr15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggataatgtttgtccccTttttcactgggtagccatcg	9	10	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:51504611T>C	ENST00000396402.1	-	9	1322	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	CYP19A1_ENST00000559878.1_Missense_Mutation_p.K390R|CYP19A1_ENST00000260433.2_Missense_Mutation_p.K390R|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.K390R	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	390					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GTTTGTCCCCTTTTTCACTGG	0.413													False	0	True	15:51504611	0	C	51504611	T	C	51504611	3	2	123	1	0	0	0	0	1	0	0	0	4173	1609	56	4	350	4	CYP19A1	15	51504611	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	1728039	51504611	51026781	159	32193											
LMAN1L	79748	broad.mit.edu	37	chr15	75116728	75116728	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccccgcccacctggccagCccccaagggcctcctcgtgc	9	24	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:75116728C>A	ENST00000309664.5	+	13	1499	c.1360C>A	c.(1360-1362)Ccc>Acc	p.P454T	LMAN1L_ENST00000379709.3_Missense_Mutation_p.P442T|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	454						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCTGGCCAGCCCCCAAGGGC	0.602													False	0	True	15:75116728	0	A	75116728	C	A	75116728	3	1	123	1	0	0	0	0	1	0	0	0	8890	739	26	3	1410	3	LMAN1L	15	75116728	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	23612117	75116728	27414664	160	32194											
ACAN	176	broad.mit.edu	37	chr15	89402244	89402244	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccacgaagctaaccttgagaGatcctctggcctaggagtga	11	11	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:89402244G>C	ENST00000439576.2	+	12	6802	c.6428G>C	c.(6427-6429)aGa>aCa	p.R2143T	ACAN_ENST00000561243.1_Missense_Mutation_p.R2143T|ACAN_ENST00000352105.7_Missense_Mutation_p.R2143T|ACAN_ENST00000559004.1_Missense_Mutation_p.R2143T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2143					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AACCTTGAGAGATCCTCTGGC	0.577													False	0	True	15:89402244	0	C	89402244	G	C	89402244	3	2	123	1	0	0	0	0	1	0	0	0	117	942	33	5	6470	5	ACAN	15	89402244	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	14285516	89402244	13129148	161	32195											
RCCD1	91433	broad.mit.edu	37	chr15	91500894	91500894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccacggctgttggaggcGttgcagggcctagtcatggc	17	10	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:91500894G>A	ENST00000394258.2	+	4	820	c.618G>A	c.(616-618)gcG>gcA	p.A206A	RCCD1_ENST00000556618.1_Silent_p.A206A|RCCD1_ENST00000555155.1_Silent_p.A206A|RCCD1_ENST00000556774.1_Intron	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	206										breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			TGTTGGAGGCGTTGCAGGGCC	0.607													False	0	False	15:91500894	0	A	91500894	G	A	91500894	2	1	123	1	0	0	0	0	0	0	0	1	13254	1132	40	1		1	RCCD1	15	91500894	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2098650	91500894	11030498	162	32196											
IFT140	9742	broad.mit.edu	37	chr16	1657152	1657152	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatatccacgctgcctgttGaggttgtgctgatgtaagca	11	8	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:1657152G>A	ENST00000426508.2	-	3	479	c.116C>T	c.(115-117)tCa>tTa	p.S39L	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	39										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCTGCCTGTTGAGGTTGTGCT	0.522													False	0	False	16:1657152	0	A	1657152	G	A	1657152	3	1	123	1	0	0	0	0	1	0	0	0	7606	1294	45	2	4388	2	IFT140	16	1657152	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		1657152	88697601	163	32197											
MYLK3	91807	broad.mit.edu	37	chr16	46781922	46781922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcctgtgcaggccccGctccaggtggcccatgtctc	11	18	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:46781922G>A	ENST00000394809.4	-	1	299	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	62					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.R62W(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGCAGGCCCCGCTCCAGGTGG	0.652													False	0	True	16:46781922	0	A	46781922	G	A	46781922	3	1	123	1	0	0	0	0	1	0	0	0	10125	1086	38	1	2327	1	MYLK3	16	46781922	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	45124770	46781922	43572831	164	32198											
CES1	1066	broad.mit.edu	37	chr16	55862732	55862732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatggttctgcaggctgCggtggagtaaacctcagggg	15	10	2	0	rs145950149		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:55862732C>T	ENST00000422046.2	-	2	485	c.204G>A	c.(202-204)ccG>ccA	p.P68P	CES1_ENST00000360526.3_Silent_p.P69P|CES1_ENST00000361503.4_Silent_p.P68P			P23141	EST1_HUMAN	carboxylesterase 1	68					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CTGCAGGCTGCGGTGGAGTAA	0.532													False	0	False	16:55862732	0	T	55862732	C	T	55862732	2	4	123	1	0	0	0	0	0	0	0	1	3292	755	27	1		1	CES1	16	55862732	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9080810	55862732	34492021	165	32199											
GPR97	222487	broad.mit.edu	37	chr16	57714440	57714440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccttggaccagtccacGgtgcatatcctcacacgcat	7	17	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:57714440G>A	ENST00000333493.4	+	8	953	c.792G>A	c.(790-792)acG>acA	p.T264T	GPR97_ENST00000450388.3_Silent_p.T144T|GPR97_ENST00000327655.6_Silent_p.T54T	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	264					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T264T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCAGTCCACGGTGCATATCC	0.587													False	0	False	16:57714440	0	A	57714440	G	A	57714440	2	1	123	1	0	0	0	0	0	0	0	1	6767	1103	39	1		1	GPR97	16	57714440	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1851708	57714440	32640313	166	32200											
CES3	23491	broad.mit.edu	37	chr16	67006386	67006386	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgttcggaggtcccttcctCatggacgagagctcccgcct	12	14	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:67006386C>T	ENST00000303334.4	+	11	1490	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	CES3_ENST00000394037.1_Silent_p.L473L|CES3_ENST00000543856.1_Silent_p.L112L	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	473						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GTCCCTTCCTCATGGACGAGA	0.592													False	0	False	16:67006386	0	T	67006386	C	T	67006386	2	4	123	1	0	0	0	0	0	0	0	1	3294	813	29	2		2	CES3	16	67006386	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9291946	67006386	23348367	167	32201											
ESRP2	80004	broad.mit.edu	37	chr16	68265495	68265495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagggcaggcctcggaggcGtacacagtccctcccagtcc	13	15	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:68265495G>A	ENST00000473183.2	-	11	1940	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	ESRP2_ENST00000565858.1_Missense_Mutation_p.R478C			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	478					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CCTCGGAGGCGTACACAGTCC	0.622													False	0	False	16:68265495	0	A	68265495	G	A	68265495	3	1	123	1	0	0	0	0	1	0	0	0	5291	1145	40	1	771	1	ESRP2	16	68265495	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1259109	68265495	22089258	168	32202											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	11	13	0	0	rs121913344		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			False	0	False	17:7577022	0	A	7577022	G	A	7577022	4	1	123	1	0	0	0	0	0	1	0	0	16464	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		7577022	73618188	169	32203											
CHD3	1107	broad.mit.edu	37	chr17	7797171	7797171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgagtgcctgatggacGcaagaagcttcggggaaaga	14	11	0	3	rs139173826		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:7797171G>A	ENST00000380358.4	+	6	1020	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	CHD3_ENST00000330494.7_Missense_Mutation_p.R281H|CHD3_ENST00000358181.4_Missense_Mutation_p.R281H	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	281					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCTGATGGACGCAAGAAGCTT	0.542													False	0	False	17:7797171	0	A	7797171	G	A	7797171	3	1	123	1	0	0	0	0	1	0	0	0	3349	1087	38	1	1145	1	CHD3	17	7797171	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	220149	7797171	73398039	170	32204											
ARHGEF15	22899	broad.mit.edu	37	chr17	8221919	8221919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagcgctgaggtggggcGcatgaagcagactgaagagc	17	8	0	5	rs143720339		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:8221919G>A	ENST00000361926.3	+	11	1921	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R604H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	604					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GAGGTGGGGCGCATGAAGCAG	0.612													False	0	False	17:8221919	0	A	8221919	G	A	8221919	3	1	123	1	0	0	0	0	1	0	0	0	900	1087	38	1	1849	1	ARHGEF15	17	8221919	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	424748	8221919	72973291	171	32205											
NF1	4763	broad.mit.edu	37	chr17	29652851	29652851	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccttaggttcaaaactggtCaaatcaatggtgatttgctg	9	7	3	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:29652851C>T	ENST00000358273.4	+	37	5232	c.4849C>T	c.(4849-4851)Caa>Taa	p.Q1617*	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1596*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1617	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAAACTGGTCAAATCAATGG	0.323			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			False	0	True	17:29652851	0	T	29652851	C	T	29652851	4	4	123	1	0	0	0	0	0	1	0	0	10424	827	29	2	5056	2	NF1	17	29652851	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	21430932	29652851	51542359	172	32206											
NF1	4763	broad.mit.edu	37	chr17	29665118	29665118	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtattagcaaacgagtgtcTcatgggcagataaagcagat	11	6	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:29665118T>G	ENST00000358273.4	+	45	7163	c.6780T>G	c.(6778-6780)tcT>tcG	p.S2260S	NF1_ENST00000444181.2_Silent_p.S53S|NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Silent_p.S2239S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2260					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACGAGTGTCTCATGGGCAGA	0.403			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			False	0	False	17:29665118	0	G	29665118	T	G	29665118	2	3	123	1	0	0	0	0	0	0	0	1	10424	1538	54	4		4	NF1	17	29665118	Silent	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	12267	29665118	51530092	173	32207											
LIG3	3980	broad.mit.edu	37	chr17	33318808	33318808	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgcggctgtccaagcTcaccaaggaggatgagcagc	12	13	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:33318808T>A	ENST00000378526.4	+	6	1293	c.1160T>A	c.(1159-1161)cTc>cAc	p.L387H	LIG3_ENST00000262327.5_Missense_Mutation_p.L387H	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	387					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CTGTCCAAGCTCACCAAGGAG	0.552								Other BER factors					False	0	False	17:33318808	0	A	33318808	T	A	33318808	3	1	123	1	0	0	0	0	1	0	0	0	8834	1551	54	5	1178	5	LIG3	17	33318808	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	3653690	33318808	47876402	174	32208											
PEX12	5193	broad.mit.edu	37	chr17	33902992	33902993	+	Frame_Shift_Del	DEL	AG	AG	-													cacagtcttcattttgggtaAgaggggagaatcagagttat					rs61752110		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:33902992_33902993delAG	ENST00000225873.4	-	3	1495_1496	c.888_889delCT	c.(886-891)ctcttafs	p.LL296fs		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	296					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTTTGGGTAAGAGGGGAGAAT	0.47													False	2	False	17:33902992	0	-	33902993	AG	-	33902992	7	5	123	1	0	1	0	1	0	0	0	0	11809	69	3	0	194	0	PEX12	17	33902992	Frame_Shift_Del	DEL	AG	TCGA-OE-A75W-01A-12D-A32N-08	584184	33902992	47292218	175	32209											
SMARCE1	6605	broad.mit.edu	37	chr17	38787103	38787103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttcctcctgccttttgCgggcctgttcctctgcctgt	8	17	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:38787103C>T	ENST00000348513.6	-	10	1670	c.890G>A	c.(889-891)cGc>cAc	p.R297H	SMARCE1_ENST00000544009.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R262H|SMARCE1_ENST00000578044.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R279H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R227H|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R262H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	297					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	p.R297H(1)		large_intestine(1)	1		Breast(137;0.000812)				CTGCCTTTTGCGGGCCTGTTC	0.507													False	0	True	17:38787103	0	T	38787103	C	T	38787103	3	4	123	1	0	0	0	0	1	0	0	0	14860	768	27	1	353	1	SMARCE1	17	38787103	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	4884111	38787103	42408107	176	32210											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274042	39274042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggagatgacacaggttgggcGatagcaagtggtgtggcagg	19	5	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:39274042G>T	ENST00000391413.2	-	1	564	c.526C>A	c.(526-528)Cgc>Agc	p.R176S		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	176						keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGGTTGGGCGATAGCAAGTG	0.652													False	0	False	17:39274042	0	T	39274042	G	T	39274042	3	4	123	1	0	0	0	0	1	0	0	0	8600	1058	37	3	65	3	KRTAP4-11	17	39274042	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	486939	39274042	41921168	177	32211											
VPS25	84313	broad.mit.edu	37	chr17	40925889	40925889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcttcaacaacgtcaaGctacagcgtatcctccctca	5	17	4	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:40925889G>T	ENST00000253794.2	+	2	232	c.192G>T	c.(190-192)aaG>aaT	p.K64N		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	64					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ACAACGTCAAGCTACAGCGTA	0.607													False	0	False	17:40925889	0	T	40925889	G	T	40925889	3	4	123	1	0	0	0	0	1	0	0	0	17280	962	34	3	198	3	VPS25	17	40925889	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1651847	40925889	40269321	178	32212											
SMCHD1	23347	broad.mit.edu	37	chr18	2739500	2739500	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaacagtacagatgggccaaGagcttcaaggagaagtaggt	13	6	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:2739500G>C	ENST00000320876.6	+	27	3834	c.3496G>C	c.(3496-3498)Gag>Cag	p.E1166Q	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1166Q	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1166					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GATGGGCCAAGAGCTTCAAGG	0.338													False	0	False	18:2739500	0	C	2739500	G	C	2739500	3	2	123	1	0	0	0	0	1	0	0	0	14868	943	33	5	3602	5	SMCHD1	18	2739500	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		2739500	75337748	179	32213											
ANKRD30B	374860	broad.mit.edu	37	chr18	14763729	14763729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaggctgcacccttggcgGaaagaacacctgacacggct	12	12	0	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:14763729G>A	ENST00000358984.4	+	7	1045	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E289K	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	289										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCCTTGGCGGAAAGAACACC	0.478													False	0	True	18:14763729	0	A	14763729	G	A	14763729	3	1	123	1	0	0	0	0	1	0	0	0	659	1175	41	2	891	2	ANKRD30B	18	14763729	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	12024229	14763729	63313519	180	32214											
ANKRD30B	374860	broad.mit.edu	37	chr18	14763906	14763906	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcctacaaaagaaacatctGagaaattttcatggccagca	8	9	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:14763906G>A	ENST00000358984.4	+	7	1222	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E348K	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	348										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAACATCTGAGAAATTTTC	0.393													False	0	False	18:14763906	0	A	14763906	G	A	14763906	3	1	123	1	0	0	0	0	1	0	0	0	659	1291	45	2	1068	2	ANKRD30B	18	14763906	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	177	14763906	63313342	181	32215											
MADCAM1	8174	broad.mit.edu	37	chr19	501739	501739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccgacaccacctccccGgagtctcccgacaccacctc	5	23	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:501739G>A	ENST00000587541.1	+	2	935	c.81G>A	c.(79-81)ccG>ccA	p.P27P	MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000215637.3_Silent_p.P246P			Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	246	Ig-like 1.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCTCCCCGGAGTCTCCCG	0.682													False	0	True	19:501739	0	A	501739	G	A	501739	2	1	123	1	0	0	0	0	0	0	0	1	9214	1103	39	1		1	MADCAM1	19	501739	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		501739	58627244	182	32216											
SPPL2B	56928	broad.mit.edu	37	chr19	2341000	2341000	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtgtggggcgtcttccGcaacgaggaccagtaagtgc	16	10	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:2341000G>A	ENST00000452401.2	+	0	1021							Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGTCTTCCGCAACGAGGAC	0.701													False	0	False	19:2341000	0	A	2341000	G	A	2341000	1	1	123	0	1	0	0	0	0	0	0	0	15171	1087	38	1		1	SPPL2B	19	2341000	RNA	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1839261	2341000	56787983	183	32217											
TNFAIP8L1	126282	broad.mit.edu	37	chr19	4652052	4652052	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcagccgcaaggaggcccaGaagatgctcaagaacctggt	13	12	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:4652052G>A	ENST00000536716.1	+	2	317	c.171G>A	c.(169-171)caG>caA	p.Q57Q	TNFAIP8L1_ENST00000327473.4_Silent_p.Q57Q	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	57										endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGGCCCAGAAGATGCTCA	0.662													False	0	False	19:4652052	0	A	4652052	G	A	4652052	2	1	123	1	0	0	0	0	0	0	0	1	16359	933	33	2		2	TNFAIP8L1	19	4652052	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2311052	4652052	54476931	184	32218											
FBN3	84467	broad.mit.edu	37	chr19	8190815	8190815	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcgtccagcatcaggccctCtggacactcacagcggaaag	12	14	3	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:8190815C>T	ENST00000600128.1	-	22	3106	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	FBN3_ENST00000270509.2_Missense_Mutation_p.E898K|FBN3_ENST00000601739.1_Missense_Mutation_p.E898K			Q75N90	FBN3_HUMAN	fibrillin 3	898	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATCAGGCCCTCTGGACACTCA	0.622													False	0	False	19:8190815	0	T	8190815	C	T	8190815	3	4	123	1	0	0	0	0	1	0	0	0	5744	922	32	2	5909	2	FBN3	19	8190815	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3538763	8190815	50938168	185	32219											
LPHN1	22859	broad.mit.edu	37	chr19	14266197	14266197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaaggcgcagtgaaagaCgaagatgaagaccccctgga	13	9	0	5			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:14266197C>T	ENST00000340736.6	-	19	3580	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I	LPHN1_ENST00000361434.3_Missense_Mutation_p.V1090I|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1095					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.V1095I(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGTGAAAGACGAAGATGAAG	0.587													False	0	False	19:14266197	0	T	14266197	C	T	14266197	3	4	123	1	0	0	0	0	1	0	0	0	8977	536	19	1	1165	1	LPHN1	19	14266197	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	6075382	14266197	44862786	186	32220											
NOTCH3	4854	broad.mit.edu	37	chr19	15271827	15271827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggcgggggccgctcctgCggggagacgggggtccctgg	21	11	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:15271827C>T	ENST00000263388.2	-	33	6687	c.6612G>A	c.(6610-6612)ccG>ccA	p.P2204P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2204					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCGCTCCTGCGGGGAGACGG	0.741													False	0	True	19:15271827	0	T	15271827	C	T	15271827	2	4	123	1	0	0	0	0	0	0	0	1	10618	755	27	1		1	NOTCH3	19	15271827	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1005630	15271827	43857156	187	32221											
CYP4F12	66002	broad.mit.edu	37	chr19	15806854	15806854	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcacccaggacattgttctCccagatggccgagtcatccc	9	15	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:15806854C>T	ENST00000550308.1	+	10	1604	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	CYP4F12_ENST00000324632.10_Silent_p.L408L	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ACATTGTTCTCCCAGATGGCC	0.612													False	0	True	19:15806854	0	T	15806854	C	T	15806854	2	4	123	1	0	0	0	0	0	0	0	1	4212	842	30	2		2	CYP4F12	19	15806854	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	535027	15806854	43322129	188	32222											
ATP4A	495	broad.mit.edu	37	chr19	36043993	36043993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtggtcctcccactgCgcccgcagccccacgcacag	12	18	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36043993C>T	ENST00000262623.3	-	18	2725	c.2697G>A	c.(2695-2697)gcG>gcA	p.A899A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	899					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCTCCCACTGCGCCCGCAGCC	0.647													False	0	False	19:36043993	0	T	36043993	C	T	36043993	2	4	123	1	0	0	0	0	0	0	0	1	1149	755	27	1		1	ATP4A	19	36043993	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	20237139	36043993	23084990	189	32223											
ARHGAP33	115703	broad.mit.edu	37	chr19	36271129	36271129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctggacaatcacggccGgcgactgctcctcagtgagg	13	13	3	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36271129G>A	ENST00000007510.4	+	7	662	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R37Q|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R173Q			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	173					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.R173Q(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AATCACGGCCGGCGACTGCTC	0.592													False	0	True	19:36271129	0	A	36271129	G	A	36271129	3	1	123	1	0	0	0	0	1	0	0	0	884	1116	39	1	544	1	ARHGAP33	19	36271129	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	227136	36271129	22857854	190	32224											
PRODH2	58510	broad.mit.edu	37	chr19	36303061	36303061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagtactggtcagcgccGtcaccttcagctgcatgagg	13	13	3	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36303061G>A	ENST00000301175.3	-	4	730	c.713C>T	c.(712-714)aCg>aTg	p.T238M		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	238					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTCAGCGCCGTCACCTTCAG	0.687													False	0	False	19:36303061	0	A	36303061	G	A	36303061	3	1	123	1	0	0	0	0	1	0	0	0	12625	1145	40	1	929	1	PRODH2	19	36303061	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	31932	36303061	22825922	191	32225											
SIPA1L3	23094	broad.mit.edu	37	chr19	38682812	38682812	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacacgaacaccaaaaatgtCtttgggcaaccgaggttgag	11	9	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:38682812C>T	ENST00000222345.6	+	17	4967	c.4458C>T	c.(4456-4458)gtC>gtT	p.V1486V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1486					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCAAAAATGTCTTTGGGCAAC	0.522													False	0	True	19:38682812	0	T	38682812	C	T	38682812	2	4	123	1	0	0	0	0	0	0	0	1	14412	900	32	2		2	SIPA1L3	19	38682812	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2379751	38682812	20446171	192	32226											
RYR1	6261	broad.mit.edu	37	chr19	39075614	39075614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacatgtacgtgggtgtccGggctggcggaggcattgggg	19	8	1	0	rs118192151		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:39075614G>A	ENST00000355481.4	+	101	14794	c.14663G>A	c.(14662-14664)cGg>cAg	p.R4888Q	RYR1_ENST00000359596.3_Missense_Mutation_p.R4893Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R4888Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4893					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGGGTGTCCGGGCTGGCGGA	0.572													False	0	True	19:39075614	0	A	39075614	G	A	39075614	3	1	123	1	0	0	0	0	1	0	0	0	13847	1116	39	1	15084	1	RYR1	19	39075614	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	392802	39075614	20053369	193	32227											
CYP2A6	1548	broad.mit.edu	37	chr19	41351245	41351245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtcctttttgactctgCgggccaaactcatggggatc	12	10	2	1	rs145036049	by1000genomes	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:41351245C>T	ENST00000301141.5	-	7	1135	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	372					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TTTGACTCTGCGGGCCAAACT	0.572													False	0	True	19:41351245	0	T	41351245	C	T	41351245	3	4	123	1	0	0	0	0	1	0	0	0	4187	768	27	1	381	1	CYP2A6	19	41351245	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2275631	41351245	17777738	194	32228											
EXOSC5	56915	broad.mit.edu	37	chr19	41903139	41903139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcaggttctgttcgcagGcaaagtgccggaggctgcag	15	10	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:41903139G>A	ENST00000221233.4	-	1	245	c.95C>T	c.(94-96)gCc>gTc	p.A32V	CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A32V|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	32					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CTGTTCGCAGGCAAAGTGCCG	0.582													False	0	False	19:41903139	0	A	41903139	G	A	41903139	3	1	123	1	0	0	0	0	1	0	0	0	5350	1203	42	2	636	2	EXOSC5	19	41903139	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	551894	41903139	17225844	195	32229											
CADM4	199731	broad.mit.edu	37	chr19	44131875	44131875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcatactggtgcagacgGcaggtgatctcagccacccc	10	15	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:44131875G>A	ENST00000222374.2	-	2	180	c.132C>T	c.(130-132)tgC>tgT	p.C44C		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	44	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GGTGCAGACGGCAGGTGATCT	0.562													False	0	False	19:44131875	0	A	44131875	G	A	44131875	2	1	123	1	0	0	0	0	0	0	0	1	2589	1195	42	2		2	CADM4	19	44131875	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2228736	44131875	14997108	196	32230											
CD33	945	broad.mit.edu	37	chr19	51728379	51728379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcttcctcagacatgcCgctgctgctactgctgcccc	9	17	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:51728379C>T	ENST00000436584.2	+	1	60	c.5C>T	c.(4-6)cCg>cTg	p.P2L	CD33_ENST00000391796.3_Missense_Mutation_p.P2L|CD33_ENST00000421133.2_Missense_Mutation_p.P2L|CD33_ENST00000262262.4_Missense_Mutation_p.P2L			P20138	CD33_HUMAN	CD33 molecule	2					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TCAGACATGCCGCTGCTGCTA	0.652													False	0	True	19:51728379	0	T	51728379	C	T	51728379	3	4	123	1	0	0	0	0	1	0	0	0	3028	652	23	1	7	1	CD33	19	51728379	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	7596504	51728379	7400604	197	32231											
NLRP2	55655	broad.mit.edu	37	chr19	55494630	55494632	+	In_Frame_Del	DEL	GAA	GAA	-													acaccctggagaaggaggagGaagaggatagggacggccac					rs3745905	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:55494630_55494632delGAA	ENST00000543010.1	+	6	1707_1709	c.1564_1566delGAA	c.(1564-1566)gaadel	p.E523del	NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del|NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	523	NACHT.|Poly-Glu.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAGGAGGAGGAAGAGGATAGGG	0.567													False	1	True	19:55494630	0	-	55494632	GAA	-	55494630	7	5	123	1	0	1	0	1	0	0	0	0	10545	1175	41	0	1582	0	NLRP2	19	55494630	In_Frame_Del	DEL	GAA	TCGA-OE-A75W-01A-12D-A32N-08	3766251	55494630	3634353	198	32232											
NLRP9	338321	broad.mit.edu	37	chr19	56243922	56243922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatacccacccacatcacGccctcagactcagataaccc	3	20	4	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:56243922G>A	ENST00000332836.2	-	2	1302	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	425	NACHT.		G -> D (in a breast cancer sample; somatic mutation).			cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CCCACATCACGCCCTCAGACT	0.473													False	0	True	19:56243922	0	A	56243922	G	A	56243922	2	1	123	1	0	0	0	0	0	0	0	1	10552	1074	38	1		1	NLRP9	19	56243922	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	749292	56243922	2885061	199	32233											
ZNF471	57573	broad.mit.edu	37	chr19	57036821	57036821	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaccgtatgaatgcaAggaatgtgggaaagccttta	12	5	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:57036821A>T	ENST00000308031.5	+	5	1518	c.1385A>T	c.(1384-1386)aAg>aTg	p.K462M	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TATGAATGCAAGGAATGTGGG	0.378													False	0	False	19:57036821	0	T	57036821	A	T	57036821	3	4	123	1	0	0	0	0	1	0	0	0	18013	72	3	5	1399	5	ZNF471	19	57036821	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	792899	57036821	2092162	200	32234											
C20orf96	140680	broad.mit.edu	37	chr20	257686	257686	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcaactggctactcaccGccaccacagaactcagaatt	6	15	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:257686G>A	ENST00000360321.2	-	8	962	c.824C>T	c.(823-825)gCg>gTg	p.A275V	C20orf96_ENST00000382369.5_Splice_Site_p.A240V|C20orf96_ENST00000400269.3_Splice_Site_p.A217V	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	275										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTACTCACCGCCACCACAGA	0.572													False	0	False	20:257686	0	A	257686	G	A	257686	5	1	123	1	0	0	0	0	0	0	1	0	2138	1101	38	1	283	1	C20orf96	20	257686	Splice_Site	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		257686	62767834	201	32235											
TASP1	55617	broad.mit.edu	37	chr20	13514683	13514683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttacctgcccaactctccCcggatgtttcaaggccaagc	7	16	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:13514683C>T	ENST00000337743.4	-	9	901	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	261					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CCAACTCTCCCCGGATGTTTC	0.463													False	0	True	20:13514683	0	T	13514683	C	T	13514683	3	4	123	1	0	0	0	0	1	0	0	0	15671	623	22	2	505	2	TASP1	20	13514683	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	13256997	13514683	49510837	202	32236											
CBFA2T2	9139	broad.mit.edu	37	chr20	32232202	32232202	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgagacatgcagtggctgcaAtatcgcgcgatactgtggct	13	10	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:32232202A>T	ENST00000492345.1	+	13	2163	c.1478A>T	c.(1477-1479)aAt>aTt	p.N493I	CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N532I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N493I|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.N522I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N522I|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.N513I|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.N70I			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	522						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGTGGCTGCAATATCGCGCGA	0.602													False	0	False	20:32232202	0	T	32232202	A	T	32232202	3	4	123	1	0	0	0	0	1	0	0	0	2717	101	4	5	1645	5	CBFA2T2	20	32232202	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	18717519	32232202	30793318	203	32237											
CDH4	1002	broad.mit.edu	37	chr20	60448850	60448850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggccaacgggatggtgcGgtaccggatcgtgacccaga	15	12	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:60448850G>A	ENST00000360469.5	+	7	1032	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R241Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	315	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGATGGTGCGGTACCGGATC	0.612													False	0	False	20:60448850	0	A	60448850	G	A	60448850	3	1	123	1	0	0	0	0	1	0	0	0	3135	1116	39	1	970	1	CDH4	20	60448850	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	28216648	60448850	2576670	204	32238											
COL6A2	0	broad.mit.edu	37	chr21	47532333	47532333	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcccgcgaggagggcatcCggctcttcgccgtggccccc	16	17	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:47532333C>A	ENST00000300527.4	+	3	660	c.556C>A	c.(556-558)Cgg>Agg	p.R186R	COL6A2_ENST00000409416.1_Silent_p.R186R|COL6A2_ENST00000310645.5_Silent_p.R186R|COL6A2_ENST00000357838.4_Silent_p.R186R|COL6A2_ENST00000397763.1_Silent_p.R186R|COL6A2_ENST00000460886.1_3'UTR	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	186	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGAGGGCATCCGGCTCTTCGC	0.701													False	0	False	21:47532333	0	A	47532333	C	A	47532333	2	1	123	1	0	0	0	0	0	0	0	1	3723	643	23	3		3	COL6A2	21	47532333	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		47532333	597562	205	32239											
DGCR8	54487	broad.mit.edu	37	chr22	20096497	20096497	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatcctcagcaagctccaaGaggagatgaagaggctagct	11	10	1	4			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:20096497G>A	ENST00000351989.3	+	13	2638	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	DGCR8_ENST00000383024.2_Missense_Mutation_p.E704K|DGCR8_ENST00000407755.1_Missense_Mutation_p.E704K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	737	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CAAGCTCCAAGAGGAGATGAA	0.577													False	0	False	22:20096497	0	A	20096497	G	A	20096497	3	1	123	1	0	0	0	0	1	0	0	0	4494	943	33	2	2255	2	DGCR8	22	20096497	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		20096497	31208069	206	32240											
ZNF70	7621	broad.mit.edu	37	chr22	24086056	24086056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccccggaaggacttgccGcacagattgcacacgtaggg	12	14	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:24086056G>A	ENST00000341976.3	-	2	1732	c.1272C>T	c.(1270-1272)tgC>tgT	p.C424C		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	424						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGGACTTGCCGCACAGATTGC	0.547													False	0	False	22:24086056	0	A	24086056	G	A	24086056	2	1	123	1	0	0	0	0	0	0	0	1	18186	1079	38	1		1	ZNF70	22	24086056	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3989559	24086056	27218510	207	32241											
CRYBB1	1414	broad.mit.edu	37	chr22	27003917	27003917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcgaccatgtgttccagCgagggtactcgcccttctcc	10	15	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:27003917C>T	ENST00000215939.2	-	4	498	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	123	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGTGTTCCAGCGAGGGTACTC	0.592													False	0	False	22:27003917	0	T	27003917	C	T	27003917	3	4	123	1	0	0	0	0	1	0	0	0	3933	768	27	1	402	1	CRYBB1	22	27003917	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2917861	27003917	24300649	208	32242											
L3MBTL2	83746	broad.mit.edu	37	chr22	41625557	41625557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaagggaaaagaatcccGcccactaagacgcgacccct	8	14	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:41625557G>A	ENST00000216237.5	+	16	2060	c.1902G>A	c.(1900-1902)ccG>ccA	p.P634P	CHADL_ENST00000216241.9_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	634					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAAGAATCCCGCCCACTAAGA	0.542													False	0	True	22:41625557	0	A	41625557	G	A	41625557	2	1	123	1	0	0	0	0	0	0	0	1	8643	1074	38	1		1	L3MBTL2	22	41625557	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	14621640	41625557	9679009	209	32243											
PHF21B	112885	broad.mit.edu	37	chr22	45309889	45309935	+	Frame_Shift_Del	DEL	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	-													gggacagtgatggggagggaGgggtgaggggaagagaggag					rs151004825	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	-	-	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:45309889_45309935delGGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	ENST00000313237.5	-	5	748_794	c.598_644delGCAACCCATCACTGTCCCCTCCACCCCTCCTCTCTTCCCCTCACCCC	c.(598-645)gcaacccatcactgtcccctccacccctcctctcttcccctcacccctfs	p.ATHHCPLHPSSLPLTP200fs	PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000404079.2_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	200							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		tggggagggaggggtgaggggaagagaggaggggtggaggggacagtgatgggttgcggggtgaggg	0.644													False	1	True	22:45309889	0	-	45309935	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	-	45309889	7	5	123	1	0	1	0	1	0	0	0	0	11903	1000	35	0	987	0	PHF21B	22	45309889	Frame_Shift_Del	DEL	GGGGTGAGGGGAAGAGAGGAGGGGTGGAGGGGACAGTGATGGGTTGC	TCGA-OE-A75W-01A-12D-A32N-08	3684332	45309889	5994677	210	32244											
ALG12	79087	broad.mit.edu	37	chr22	50303671	50303671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctgaacacgatgatggCgaaggctgacagccagatga	12	11	0	5			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:50303671C>T	ENST00000330817.6	-	5	808	c.535G>A	c.(535-537)Gcc>Acc	p.A179T		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ACGATGATGGCGAAGGCTGAC	0.637													False	0	False	22:50303671	0	T	50303671	C	T	50303671	3	4	123	1	0	0	0	0	1	0	0	0	514	768	27	1	955	1	ALG12	22	50303671	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	4993782	50303671	1000895	211	32245											
SPANXD	64648	broad.mit.edu	37	chrX	140785811	140785811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttttttcggagcaggttgCgggtctgagtacccactcga	13	9	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:140785811C>T	ENST00000370515.3	-	2	438	c.105G>A	c.(103-105)ccG>ccA	p.P35P		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					GAGCAGGTTGCGGGTCTGAGT	0.478													False	0	True	X:140785811	0	T	140785811	C	T	140785811	2	4	123	1	0	0	0	0	0	0	0	1	15070	755	27	1		1	SPANXD	23	140785811	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		140785811	14484749	212	32246											
ARHGAP4	393	broad.mit.edu	37	chrX	153187163	153187163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccagctccacctcagcgCggcgccgcatgaactctgcc	9	18	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:153187163C>T	ENST00000370028.3	-	2	224	c.167G>A	c.(166-168)cGc>cAc	p.R56H	ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R56H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R33H|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R56H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R56H	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	56	FCH.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCTCAGCGCGGCGCCGCAT	0.697													False	0	False	X:153187163	0	T	153187163	C	T	153187163	3	4	123	1	0	0	0	0	1	0	0	0	887	768	27	1	2881	1	ARHGAP4	23	153187163	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	12401352	153187163	2083397	213	32247											
PADI3	51702	broad.mit.edu	37	chr1	17593247	17593247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggcccagtgggtatggcGgcatcttgctggtgaactgt	18	8	1	1			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:17593247G>A	ENST00000375460.3	+	5	482	c.442G>A	c.(442-444)Ggc>Agc	p.G148S		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	148					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGGTATGGCGGCATCTTGCT	0.597													False	0	False	1:17593247	0	A	17593247	G	A	17593247	3	1	124	1	0	0	0	0	1	0	0	0	11447	1116	39	1	460	1	PADI3	1	17593247	Missense_Mutation	SNP	G	TCGA-PZ-A5RE-01A-11D-A32N-08		17593247	231657374	1	32248											
DIO1	1733	broad.mit.edu	37	chr1	54370396	54370397	+	Frame_Shift_Ins	INS	-	-	TTCTGTT													tgaccttcatttatgttcaaINSatttgaccagttcaagaggc							TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:54370396_54370397insTTCTGTT	ENST00000361921.3	+	2	419_420	c.395_396insTTCTGTT	c.(394-399)aaatttfs	p.KF132fs	DIO1_ENST00000388876.3_Intron|DIO1_ENST00000322679.6_Frame_Shift_Ins_p.KF132fs|DIO1_ENST00000524406.1_Frame_Shift_Ins_p.KF3fs|DIO1_ENST00000525202.1_Frame_Shift_Ins_p.KF68fs|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	132					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						TTTATGTTCAAATTTGACCAGT	0.391													False	0	True	1:54370396	0	TTCTGTT	54370397	-	TTCTGTT	54370396	7	5	124	1	0	1	1	0	0	0	0	0	4554	14	1	0	401	0	DIO1	1	54370396	Frame_Shift_Ins	INS	-	TCGA-PZ-A5RE-01A-11D-A32N-08	36777149	54370396	194880225	2	32249											
LEPR	3953	broad.mit.edu	37	chr1	66102496	66102496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttttgactgacaagtcaaGggtatcgtgcccattcccag	10	11	1	2			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:66102496G>A	ENST00000349533.6	+	20	3481	c.3296G>A	c.(3295-3297)aGg>aAg	p.R1099K	LEPR_ENST00000406510.3_Missense_Mutation_p.R166K	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1099					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GACAAGTCAAGGGTATCGTGC	0.398													False	0	True	1:66102496	0	A	66102496	G	A	66102496	3	1	124	1	0	0	0	0	1	0	0	0	8779	1000	35	2	3596	2	LEPR	1	66102496	Missense_Mutation	SNP	G	TCGA-PZ-A5RE-01A-11D-A32N-08	11732100	66102496	183148125	3	32250											
RCSD1	92241	broad.mit.edu	37	chr1	167666774	167666774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccccagggaggaaaagccaGctggagaggaagcagagatg	17	8	0	2			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:167666774G>T	ENST00000367854.3	+	6	1244	c.913G>T	c.(913-915)Gct>Tct	p.A305S	RCSD1_ENST00000537350.1_Missense_Mutation_p.A275S	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	305	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GGAAAAGCCAGCTGGAGAGGA	0.582													False	0	False	1:167666774	0	T	167666774	G	T	167666774	3	4	124	1	0	0	0	0	1	0	0	0	13264	971	34	3	935	3	RCSD1	1	167666774	Missense_Mutation	SNP	G	TCGA-PZ-A5RE-01A-11D-A32N-08	101564278	167666774	81583847	4	32251											
ANKRD39	51239	broad.mit.edu	37	chr2	97523690	97523690	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgctgggatgcgagcagCagggcccgtccgcgcagggc	18	15	0	0			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr2:97523690C>A	ENST00000393537.4	-	1	142	c.35G>T	c.(34-36)tGc>tTc	p.C12F		NM_016466.5	NP_057550.3	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	12										NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	6						ATGCGAGCAGCAGGGCCCGTC	0.741													False	0	False	2:97523690	0	A	97523690	C	A	97523690	3	1	124	1	0	0	0	0	1	0	0	0	668	710	25	3	532	3	ANKRD39	2	97523690	Missense_Mutation	SNP	C	TCGA-PZ-A5RE-01A-11D-A32N-08		97523690	145675683	5	32252											
DNAH7	56171	broad.mit.edu	37	chr2	196674543	196674543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccttttcaaagagtgaccGgcagacattaacatacagtg	8	9	1	3			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr2:196674543G>A	ENST00000312428.6	-	52	9914	c.9814C>T	c.(9814-9816)Cgg>Tgg	p.R3272W		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3272					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGAGTGACCGGCAGACATTA	0.353													False	0	False	2:196674543	0	A	196674543	G	A	196674543	3	1	124	1	0	0	0	0	1	0	0	0	4636	1115	39	1	2316	1	DNAH7	2	196674543	Missense_Mutation	SNP	G	TCGA-PZ-A5RE-01A-11D-A32N-08	99150853	196674543	46524830	6	32253											
NBEAL2	23218	broad.mit.edu	37	chr3	47048744	47048744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggtgactgtgagtgCcagtgggctgctgggcaccc	16	12	0	2			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr3:47048744C>T	ENST00000450053.3	+	47	7417	c.7238C>T	c.(7237-7239)gCc>gTc	p.A2413V	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2229V|NBEAL2_ENST00000383740.2_Missense_Mutation_p.A662V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2413							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACTGTGAGTGCCAGTGGGCTG	0.597													False	0	False	3:47048744	0	T	47048744	C	T	47048744	3	4	124	1	0	0	0	0	1	0	0	0	10256	739	26	2	7424	2	NBEAL2	3	47048744	Missense_Mutation	SNP	C	TCGA-PZ-A5RE-01A-11D-A32N-08		47048744	150973686	7	32254											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69362479	69362480	+	In_Frame_Ins	INS	-	-	CACCCTAAAGGAGAAGACAGAAATTAGTAATTCATAATTCAG													cctggtgtttatactagagtINStacggccttgcgggactgga							TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr4:69362479_69362480insCACCCTAAAGGAGAAGACAGAAATTAGTAATTCATAATTCAG	ENST00000305363.4	+	10	1293_1294	c.1229_1230insCACCCTAAAGGAGAAGACAGAAATTAGTAATTCATAATTCAG	c.(1228-1233)gttacg>gtCACCCTAAAGGAGAAGACAGAAATTAGTAATTCATAATTCAGtacg	p.411_412insLKEKTEISNS*FST		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	411	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TATACTAGAGTTACGGCCTTGC	0.436													False	0	False	4:69362479	0	CACCCTAAAGGAGAAGACAGAAATTAGTAATTCATAATTCAG	69362480	-	CACCCTAAAGGAGAAGACAGAAATTAGTAATTCATAATTCAG	69362479	7	5	124	1	0	1	1	0	0	0	0	0	16324	1725	60	0	1267	0	TMPRSS11E	4	69362479	In_Frame_Ins	INS	-	TCGA-PZ-A5RE-01A-11D-A32N-08		69362479	121791797	8	32255											
DCHS2	54798	broad.mit.edu	37	chr4	155219098	155219098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaatgaccaagagacccGtggttgtcctggctggaatg	14	8	0	3			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr4:155219098G>A	ENST00000357232.4	-	18	5002	c.5003C>T	c.(5002-5004)aCg>aTg	p.T1668M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGAGACCCGTGGTTGTCCT	0.453													False	0	True	4:155219098	0	A	155219098	G	A	155219098	3	1	124	1	0	0	0	0	1	0	0	0	4313	1145	40	1	3779	1	DCHS2	4	155219098	Missense_Mutation	SNP	G	TCGA-PZ-A5RE-01A-11D-A32N-08	85856619	155219098	35935178	9	32256											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	124	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-PZ-A5RE-01A-11D-A32N-08		7393450	163721617	10	32257											
ABCB5	340273	broad.mit.edu	37	chr7	20744419	20744419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattagccatagatatagcaCaaattcaaggagtatgtata	7	5	1	1			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr7:20744419C>A	ENST00000404938.2	+	20	3062	c.2410C>A	c.(2410-2412)Caa>Aaa	p.Q804K	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q359K	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	359	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGATATAGCACAAATTCAAGG	0.363													False	0	True	7:20744419	0	A	20744419	C	A	20744419	3	1	124	1	0	0	0	0	1	0	0	0	44	479	17	3	2525	3	ABCB5	7	20744419	Missense_Mutation	SNP	C	TCGA-PZ-A5RE-01A-11D-A32N-08		20744419	138394244	11	32258											
ABCB1	5243	broad.mit.edu	37	chr7	87138667	87138667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcttcctgtgacaccaccCggctgttgtctccataggca	8	15	2	1			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr7:87138667C>A	ENST00000265724.3	-	27	3830	c.3413G>T	c.(3412-3414)cGg>cTg	p.R1138L	ABCB1_ENST00000543898.1_Missense_Mutation_p.R1074L|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1138	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TGACACCACCCGGCTGTTGTC	0.512													False	0	True	7:87138667	0	A	87138667	C	A	87138667	3	1	124	1	0	0	0	0	1	0	0	0	40	652	23	3	441	3	ABCB1	7	87138667	Missense_Mutation	SNP	C	TCGA-PZ-A5RE-01A-11D-A32N-08	66394248	87138667	71999996	12	32259											
AZGP1	563	broad.mit.edu	37	chr7	99564799	99564799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctcctgcacctcgccggCccgagtccagtgcacatcaa	10	17	1	0			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr7:99564799C>T	ENST00000292401.4	-	4	860	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	242	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ACCTCGCCGGCCCGAGTCCAG	0.582													False	0	True	7:99564799	0	T	99564799	C	T	99564799	3	4	124	1	0	0	0	0	1	0	0	0	1243	739	26	2	176	2	AZGP1	7	99564799	Missense_Mutation	SNP	C	TCGA-PZ-A5RE-01A-11D-A32N-08	12426132	99564799	59573864	13	32260											
DLGAP2	9228	broad.mit.edu	37	chr8	1581003	1581003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgattgcaggtgagcgaggCggagatcaatgggcaattcg	16	6	1	3			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr8:1581003C>T	ENST00000421627.2	+	5	1495	c.1361C>T	c.(1360-1362)gCg>gTg	p.A454V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	533					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GTGAGCGAGGCGGAGATCAAT	0.577													False	0	False	8:1581003	0	T	1581003	C	T	1581003	3	4	124	1	0	0	0	0	1	0	0	0	4590	768	27	1	1375	1	DLGAP2	8	1581003	Missense_Mutation	SNP	C	TCGA-PZ-A5RE-01A-11D-A32N-08		1581003	144783019	14	32261											
ANK1	286	broad.mit.edu	37	chr8	41513269	41513269	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggttgggtgtcgaggtgtGatcctgggagacacaaagag	19	5	0	3			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr8:41513269G>A	ENST00000347528.4	-	42	5706	c.5623C>T	c.(5623-5625)Cac>Tac	p.H1875Y	ANK1_ENST00000522231.1_Missense_Mutation_p.H125Y|ANK1_ENST00000396942.1_3'UTR|ANK1_ENST00000379758.2_Missense_Mutation_p.H1828Y|ANK1_ENST00000396945.1_Missense_Mutation_p.H1800Y|ANK1_ENST00000522543.1_Missense_Mutation_p.H150Y|ANK1_ENST00000314214.8_3'UTR|ANK1_ENST00000352337.4_3'UTR|ANK1_ENST00000265709.8_Missense_Mutation_p.H1891Y|ANK1_ENST00000457297.1_Missense_Mutation_p.H103Y|ANK1_ENST00000289734.7_3'UTR	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1875	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	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)			GTCGAGGTGTGATCCTGGGAG	0.567													False	0	False	8:41513269	0	A	41513269	G	A	41513269	3	1	124	1	0	0	0	0	1	0	0	0	620	1290	45	2	26	2	ANK1	8	41513269	Missense_Mutation	SNP	G	TCGA-PZ-A5RE-01A-11D-A32N-08	39932266	41513269	104850753	15	32262											
RUNX1T1	862	broad.mit.edu	37	chr8	92983007	92983007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcatgtcgtgggctttcCgctccgcctcagacacggcc	11	15	2	2			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr8:92983007C>T	ENST00000523629.1	-	11	1872	c.1418G>A	c.(1417-1419)cGg>cAg	p.R473Q	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R484Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R473Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	473					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTGGGCTTTCCGCTCCGCCTC	0.617													False	0	True	8:92983007	0	T	92983007	C	T	92983007	3	4	124	1	0	0	0	0	1	0	0	0	13826	652	23	1	404	1	RUNX1T1	8	92983007	Missense_Mutation	SNP	C	TCGA-PZ-A5RE-01A-11D-A32N-08	51469738	92983007	53381015	16	32263											
FRMPD2	143162	broad.mit.edu	37	chr10	49392828	49392828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgtacctggtttgatcGtttttgctttttctgctggt	10	6	1	2	rs34002506	byFrequency	TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr10:49392828G>A	ENST00000374201.3	-	19	2758	c.2456C>T	c.(2455-2457)aCg>aTg	p.T819M	FRMPD2_ENST00000305531.3_Missense_Mutation_p.T794M|FRMPD2_ENST00000407470.4_Missense_Mutation_p.T787M	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	819	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGGTTTGATCGTTTTTGCTTT	0.348													False	0	True	10:49392828	0	A	49392828	G	A	49392828	3	1	124	1	0	0	0	0	1	0	0	0	6100	1145	40	1	1517	1	FRMPD2	10	49392828	Missense_Mutation	SNP	G	TCGA-PZ-A5RE-01A-11D-A32N-08		49392828	86141919	17	32264											
DMBT1	1755	broad.mit.edu	37	chr10	124389416	124389416	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgggacattctccagcccatCctaccctgcatactacccca	5	18	1	0			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr10:124389416C>A	ENST00000338354.3	+	44	5448	c.5342C>A	c.(5341-5343)tCc>tAc	p.S1781Y	DMBT1_ENST00000359586.6_Missense_Mutation_p.S501Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1771Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1771Y|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1781Y|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1153Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1153Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1781	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCCAGCCCATCCTACCCTGCA	0.458													False	0	False	10:124389416	0	A	124389416	C	A	124389416	3	1	124	1	0	0	0	0	1	0	0	0	4607	855	30	3	5516	3	DMBT1	10	124389416	Missense_Mutation	SNP	C	TCGA-PZ-A5RE-01A-11D-A32N-08	74996588	124389416	11145331	18	32265											
SBF2	81846	broad.mit.edu	37	chr11	10019923	10019924	+	In_Frame_Ins	INS	-	-	AGACTCAATCAGCTCTTTCTTTGGTATGACATATTTTTGTAATAG													aaatctgctatgattacatcINStaactgaaagagataaaaaa							TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr11:10019923_10019924insAGACTCAATCAGCTCTTTCTTTGGTATGACATATTTTTGTAATAG	ENST00000256190.8	-	9	1001_1002	c.864_865insCTATTACAAAAATATGTCATACCAAAGAAAGAGCTGATTGAGTCT	c.(862-867)ttagat>ttaCTATTACAAAAATATGTCATACCAAAGAAAGAGCTGATTGAGTCTgat	p.288_289LD>LLLQKYVIPKKELIESD	SBF2_ENST00000527019.1_Intron	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	288	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ATGATTACATCTAACTGAAAGA	0.337													False	0	False	11:10019923	0	AGACTCAATCAGCTCTTTCTTTGGTATGACATATTTTTGTAATAG	10019924	-	AGACTCAATCAGCTCTTTCTTTGGTATGACATATTTTTGTAATAG	10019923	7	5	124	1	0	1	1	0	0	0	0	0	13939	913	32	0	4812	0	SBF2	11	10019923	In_Frame_Ins	INS	-	TCGA-PZ-A5RE-01A-11D-A32N-08		10019923	124986593	19	32266											
KRAS	3845	broad.mit.edu	37	chr12	25380272	25380272	+	Silent	SNP	C	C	T													tccctcattgcactgtactcCtcttgacctgctgtgtcgag							TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr12:25380272C>T	ENST00000311936.3	-	3	377	c.186G>A	c.(184-186)gaG>gaA	p.E62E	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Silent_p.E62E	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	62					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.E62D(1)|p.E62_S65>D(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CACTGTACTCCTCTTGACCTG	0.423		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25380272	0	T	25380272	C	T	25380272	2	4	124	1	0	0	0	0	0	0	0	1	8488	680	24	2		2	KRAS	12	25380272	Silent	SNP	C	TCGA-PZ-A5RE-01A-11D-A32N-08		25380272	108471623	20	32267	379	2									
KRAS	3845	broad.mit.edu	37	chr12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G													ctcattgcactgtactcctcTtgacctgctgtgtcgagaat					rs17851045		TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr12:25380275T>G	ENST00000311936.3	-	3	374	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25380275	0	G	25380275	T	G	25380275	3	3	124	1	0	0	0	0	1	0	0	0	8488	1606	56	4	519	4	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-PZ-A5RE-01A-11D-A32N-08	3	25380275	108471620	21	32268	379	2									
BTBD11	121551	broad.mit.edu	37	chr12	108045467	108045467	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttagcttctgtctgctgctaAgtttttccagctggaggctt	10	9	2	0			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr12:108045467A>C	ENST00000280758.5	+	16	3536	c.3008A>C	c.(3007-3009)aAg>aCg	p.K1003T	BTBD11_ENST00000420571.2_Missense_Mutation_p.K884T|BTBD11_ENST00000494235.2_Missense_Mutation_p.K82T|BTBD11_ENST00000357167.4_Missense_Mutation_p.K540T	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1003						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCTGCTGCTAAGTTTTTCCAG	0.438													False	0	False	12:108045467	0	C	108045467	A	C	108045467	3	2	124	1	0	0	0	0	1	0	0	0	1546	72	3	4	3175	4	BTBD11	12	108045467	Missense_Mutation	SNP	A	TCGA-PZ-A5RE-01A-11D-A32N-08	82665192	108045467	25806428	22	32269											
MYH7	4625	broad.mit.edu	37	chr14	23886078	23886078	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcacacacacacaccTcggcctcctccagggctgac	8	20	0	1			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr14:23886078T>A	ENST00000355349.3	-	33	4805	c.4643A>T	c.(4642-4644)gAg>gTg	p.E1548V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1548					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CACACACACCTCGGCCTCCTC	0.592													False	0	False	14:23886078	0	A	23886078	T	A	23886078	5	1	124	1	0	0	0	0	0	0	1	0	10106	1565	54	5	1196	5	MYH7	14	23886078	Splice_Site	SNP	T	TCGA-PZ-A5RE-01A-11D-A32N-08		23886078	83463462	23	32270											
PPP2R5C	5527	broad.mit.edu	37	chr14	102349889	102349890	+	Frame_Shift_Ins	INS	-	-	T													cagaaaacagataaataataINStattttataggtaagtcacg							TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr14:102349889_102349890insT	ENST00000334743.5	+	5	667_668	c.619_620insT	c.(619-621)atafs	p.I207fs	PPP2R5C_ENST00000422945.2_Frame_Shift_Ins_p.I238fs|PPP2R5C_ENST00000350249.3_Frame_Shift_Ins_p.I207fs|PPP2R5C_ENST00000557095.1_Frame_Shift_Ins_p.I207fs|PPP2R5C_ENST00000445439.3_Frame_Shift_Ins_p.I207fs|PPP2R5C_ENST00000328724.5_Frame_Shift_Ins_p.I262fs	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	207					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GATAAATAATATATTTTATAGG	0.45													False	1	True	14:102349889	0	T	102349890	-	T	102349889	7	5	124	1	0	1	1	0	0	0	0	0	12468	449	16	0	1006	0	PPP2R5C	14	102349889	Frame_Shift_Ins	INS	-	TCGA-PZ-A5RE-01A-11D-A32N-08	78463811	102349889	4999651	24	32271											
MORF4L1	10933	broad.mit.edu	37	chr15	79179690	79179691	+	Splice_Site	INS	-	-	TAATGTCAACATAAAATGAGCATTTA													gcaacagaaaaatgttgaagINStgtaagaagctctttgtttt							TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr15:79179690_79179691insTAATGTCAACATAAAATGAGCATTTA	ENST00000379535.4	+	6	961_962	c.397_398insTAATGTCAACATAAAATGAGCATTTA	c.(397-399)gtg>gTAATGTCAACATAAAATGAGCATTTAtg	p.-133fs	MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000559345.1_Splice_Site_p.-20fs|MORF4L1_ENST00000558502.1_Splice_Site_p.-20fs|MORF4L1_ENST00000331268.5_Splice_Site_p.-147fs|MORF4L1_ENST00000426013.2_Splice_Site_p.-108fs			Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1						double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AAATGTTGAAGTGTAAGAAGCT	0.371													False	0	False	15:79179690	0	TAATGTCAACATAAAATGAGCATTTA	79179691	-	TAATGTCAACATAAAATGAGCATTTA	79179690	8	5	124	1	0	1	1	0	0	0	1	0	9773	1043	36	0	461	0	MORF4L1	15	79179690	Splice_Site	INS	-	TCGA-PZ-A5RE-01A-11D-A32N-08		79179690	23351702	25	32272											
SLC9A5	6553	broad.mit.edu	37	chr16	67298340	67298340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagcagaacatgaagcGgcggctggagtcctttaagt	12	10	0	2			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr16:67298340G>A	ENST00000299798.11	+	13	1993	c.1928G>A	c.(1927-1929)cGg>cAg	p.R643Q		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	643					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.R643Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AACATGAAGCGGCGGCTGGAG	0.577													False	0	False	16:67298340	0	A	67298340	G	A	67298340	3	1	124	1	0	0	0	0	1	0	0	0	14797	1116	39	1	1978	1	SLC9A5	16	67298340	Missense_Mutation	SNP	G	TCGA-PZ-A5RE-01A-11D-A32N-08		67298340	23056413	26	32273											
TP53	7157	broad.mit.edu	37	chr17	7578268	7578268	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatttccttccactcggataAgatgctgaggaggggccaga	12	9	0	3			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr17:7578268A>T	ENST00000420246.2	-	6	713	c.581T>A	c.(580-582)cTt>cAt	p.L194H	TP53_ENST00000455263.2_Missense_Mutation_p.L194H|TP53_ENST00000445888.2_Missense_Mutation_p.L194H|TP53_ENST00000359597.4_Missense_Mutation_p.L194H|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.L194H|TP53_ENST00000269305.4_Missense_Mutation_p.L194H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACTCGGATAAGATGCTGAGG	0.552		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)			False	0	False	17:7578268	0	T	7578268	A	T	7578268	3	4	124	1	0	0	0	0	1	0	0	0	16464	72	3	5	713	5	TP53	17	7578268	Missense_Mutation	SNP	A	TCGA-PZ-A5RE-01A-11D-A32N-08		7578268	73616942	27	32274											
HNF1B	6928	broad.mit.edu	37	chr17	36065034	36065035	+	Frame_Shift_Ins	INS	-	-	GGGAGAAGAAGAATGGGAAGCAAATT													caaggtgctgactgggggcaINSaacctcctcctgagactgag							TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr17:36065034_36065035insGGGAGAAGAAGAATGGGAAGCAAATT	ENST00000560016.1	-	6	1361_1362	c.1228_1229insAATTTGCTTCCCATTCTTCTTCTCCC	c.(1228-1230)ttgfs	p.L410fs	HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.L384fs|HNF1B_ENST00000427275.2_Frame_Shift_Ins_p.L384fs|HNF1B_ENST00000225893.4_Frame_Shift_Ins_p.L410fs			P35680	HNF1B_HUMAN	HNF1 homeobox B	410					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GACTGGGGGCAAACCTCCTCCT	0.495													False	0	True	17:36065034	0	GGGAGAAGAAGAATGGGAAGCAAATT	36065035	-	GGGAGAAGAAGAATGGGAAGCAAATT	36065034	7	5	124	1	0	1	1	0	0	0	0	0	7299	131	5	0	460	0	HNF1B	17	36065034	Frame_Shift_Ins	INS	-	TCGA-PZ-A5RE-01A-11D-A32N-08	28486766	36065034	45130176	28	32275											
DNAI2	64446	broad.mit.edu	37	chr17	72277972	72277972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccatggagattgtgtacGtgtacgtcaagaagcgcagc	13	9	1	2			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr17:72277972G>A	ENST00000579490.1	+	1	322	c.187G>A	c.(187-189)Gtg>Atg	p.V63M	DNAI2_ENST00000311014.6_Missense_Mutation_p.V6M|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Missense_Mutation_p.V6M|DNAI2_ENST00000446837.2_Missense_Mutation_p.V6M			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	6					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GATTGTGTACGTGTACGTCAA	0.632									Kartagener syndrome				False	0	True	17:72277972	0	A	72277972	G	A	72277972	3	1	124	1	0	0	0	0	1	0	0	0	4640	1145	40	1	18	1	DNAI2	17	72277972	Missense_Mutation	SNP	G	TCGA-PZ-A5RE-01A-11D-A32N-08	36212938	72277972	8917238	29	32276											
SMAD4	4089	broad.mit.edu	37	chr18	48604785	48604785	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaccgggccctccagctccTagacgaagtacttcatacca	7	16	1	1			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr18:48604785T>C	ENST00000342988.3	+	12	2145	c.1607T>C	c.(1606-1608)cTa>cCa	p.L536P	SMAD4_ENST00000398417.2_Missense_Mutation_p.L536P|SMAD4_ENST00000588745.1_Missense_Mutation_p.L440P|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	536	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.L536fs*11(1)|p.L536Q(1)|p.L536fs*14(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CTCCAGCTCCTAGACGAAGTA	0.488													False	0	False	18:48604785	0	C	48604785	T	C	48604785	3	2	124	1	0	0	0	0	1	0	0	0	14840	1522	53	4	1649	4	SMAD4	18	48604785	Missense_Mutation	SNP	T	TCGA-PZ-A5RE-01A-11D-A32N-08		48604785	29472463	30	32277											
ACTL9	284382	broad.mit.edu	37	chr19	8808041	8808041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacccaccgcagagaagcacGttttgggccaagtccgcgcg	13	14	0	1			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr19:8808041G>A	ENST00000324436.3	-	1	1131	c.1011C>T	c.(1009-1011)aaC>aaT	p.N337N		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	337						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGAGAAGCACGTTTTGGGCCA	0.672													False	0	True	19:8808041	0	A	8808041	G	A	8808041	2	1	124	1	0	0	0	0	0	0	0	1	203	1136	40	1		1	ACTL9	19	8808041	Silent	SNP	G	TCGA-PZ-A5RE-01A-11D-A32N-08		8808041	50320942	31	32278											
SSBP4	170463	broad.mit.edu	37	chr19	18545046	18545046	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtactcgccagggatgaccaTgagcgtgtgatggggcggca	17	9	0	3			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr19:18545046T>C	ENST00000270061.7	+	18	1442	c.1148T>C	c.(1147-1149)aTg>aCg	p.M383T	SSBP4_ENST00000599699.2_Missense_Mutation_p.M69T|SSBP4_ENST00000348495.6_Missense_Mutation_p.M361T	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4							nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						GGGATGACCATGAGCGTGTGA	0.716													False	0	False	19:18545046	0	C	18545046	T	C	18545046	3	2	124	1	0	0	0	0	1	0	0	0	15264	1464	51	4	1218	4	SSBP4	19	18545046	Missense_Mutation	SNP	T	TCGA-PZ-A5RE-01A-11D-A32N-08	9737005	18545046	40583937	32	32279											
SRC	6714	broad.mit.edu	37	chr20	36014538	36014538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taggacggagacagacctgtCcttcaagaaaggcgagcggc	14	10	1	3			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr20:36014538C>T	ENST00000373578.2	+	5	660	c.311C>T	c.(310-312)tCc>tTc	p.S104F	SRC_ENST00000373567.2_Missense_Mutation_p.S104F|SRC_ENST00000358208.4_Missense_Mutation_p.S104F|SRC_ENST00000360723.4_Missense_Mutation_p.S104F|SRC_ENST00000373558.2_Missense_Mutation_p.S104F|SRC_ENST00000445403.1_Missense_Mutation_p.S104F	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	104	SH3.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	ACAGACCTGTCCTTCAAGAAA	0.592													False	0	False	20:36014538	0	T	36014538	C	T	36014538	3	4	124	1	0	0	0	0	1	0	0	0	15216	855	30	2	317	2	SRC	20	36014538	Missense_Mutation	SNP	C	TCGA-PZ-A5RE-01A-11D-A32N-08		36014538	27010982	33	32280											
PFKL	5211	broad.mit.edu	37	chr21	45744744	45744744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccctcccgcaggtcaaCgtggagcacatgacggagaa	12	15	1	2			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr21:45744744C>T	ENST00000403390.1	+	19	1962	c.1962C>T	c.(1960-1962)aaC>aaT	p.N654N	PFKL_ENST00000349048.4_Silent_p.N607N			P17858	K6PL_HUMAN	phosphofructokinase, liver	607					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CGCAGGTCAACGTGGAGCACA	0.662													False	0	False	21:45744744	0	T	45744744	C	T	45744744	2	4	124	1	0	0	0	0	0	0	0	1	11833	535	19	1		1	PFKL	21	45744744	Silent	SNP	C	TCGA-PZ-A5RE-01A-11D-A32N-08		45744744	2385151	34	32281											
CCDC120	90060	broad.mit.edu	37	chrX	48923087	48923087	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagccctgagcggcgaacccCatggaaaccacctccatcag	10	16	1	1			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:48923087C>A	ENST00000376396.3	+	8	1004	c.785C>A	c.(784-786)cCa>cAa	p.P262Q	CCDC120_ENST00000597275.1_Missense_Mutation_p.P262Q|CCDC120_ENST00000603986.1_Missense_Mutation_p.P297Q|CCDC120_ENST00000422185.2_Missense_Mutation_p.P262Q|CCDC120_ENST00000536628.2_Missense_Mutation_p.P250Q|CCDC120_ENST00000496529.2_Missense_Mutation_p.P262Q	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	262							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CGGCGAACCCCATGGAAACCA	0.652													False	0	True	X:48923087	0	A	48923087	C	A	48923087	3	1	124	1	0	0	0	0	1	0	0	0	2776	594	21	3	807	3	CCDC120	23	48923087	Missense_Mutation	SNP	C	TCGA-PZ-A5RE-01A-11D-A32N-08		48923087	106347473	35	32282											
SHROOM4	57477	broad.mit.edu	37	chrX	50378665	50378665	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacaccactgcacacacacGtcactgtaagacacagggca	9	14	1	1			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:50378665G>A	ENST00000376020.2	-	4	433	c.408C>T	c.(406-408)gaC>gaT	p.D136D	SHROOM4_ENST00000460112.3_Silent_p.D20D|SHROOM4_ENST00000289292.7_Silent_p.D136D	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	136					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCACACACACGTCACTGTAAG	0.572													False	0	True	X:50378665	0	A	50378665	G	A	50378665	2	1	124	1	0	0	0	0	0	0	0	1	14377	1136	40	1		1	SHROOM4	23	50378665	Silent	SNP	G	TCGA-PZ-A5RE-01A-11D-A32N-08	1455578	50378665	104891895	36	32283											
MAGEC1	9947	broad.mit.edu	37	chrX	140993257	140993257	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agagttcctctgagagtcctCagagttgtcctgagggggag	15	8	2	4			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:140993257C>T	ENST00000285879.4	+	4	353	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	23							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGAGTCCTCAGAGTTGTCC	0.567										HNSCC(15;0.026)			False	0	False	X:140993257	0	T	140993257	C	T	140993257	4	4	124	1	0	0	0	0	0	1	0	0	9247	827	29	2	73	2	MAGEC1	23	140993257	Nonsense_Mutation	SNP	C	TCGA-PZ-A5RE-01A-11D-A32N-08	90614592	140993257	14277303	37	32284											
ATP2B3	492	broad.mit.edu	37	chrX	152808544	152808544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaatggtggtgaccgcCgttggcgtgaattcccagac	15	9	0	4			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:152808544C>T	ENST00000370186.1	+	6	1160	c.834C>T	c.(832-834)gcC>gcT	p.A278A	ATP2B3_ENST00000370181.2_Silent_p.A278A|ATP2B3_ENST00000349466.2_Silent_p.A278A|ATP2B3_ENST00000393842.1_Silent_p.A278A|ATP2B3_ENST00000359149.3_Silent_p.A278A|ATP2B3_ENST00000263519.4_Silent_p.A278A			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	278					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGACCGCCGTTGGCGTGA	0.532													False	0	False	X:152808544	0	T	152808544	C	T	152808544	2	4	124	1	0	0	0	0	0	0	0	1	1145	639	23	1		1	ATP2B3	23	152808544	Silent	SNP	C	TCGA-PZ-A5RE-01A-11D-A32N-08	11815287	152808544	2462016	38	32285											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	125	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-Q3-A5QY-01A-12D-A32N-08		22987385	226263236	1	32286											
ADPRHL2	54936	broad.mit.edu	37	chr1	36557376	36557376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcaatggaggtgccatgCgggtggctggcatctccctg	16	10	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:36557376C>T	ENST00000373178.4	+	3	496	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	156						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				AGGTGCCATGCGGGTGGCTGG	0.582													False	0	True	1:36557376	0	T	36557376	C	T	36557376	3	4	125	1	0	0	0	0	1	0	0	0	333	759	27	1	476	1	ADPRHL2	1	36557376	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	13569991	36557376	212693245	2	32287											
PTGFR	5737	broad.mit.edu	37	chr1	79002208	79002208	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagatccttgggtatatattCttctacgaaaggctgtcctt	8	8	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:79002208C>A	ENST00000370757.3	+	3	1153	c.916C>A	c.(916-918)Ctt>Att	p.L306I	PTGFR_ENST00000370758.1_Missense_Mutation_p.L306I|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	306					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGTATATATTCTTCTACGAAA	0.388													False	0	False	1:79002208	0	A	79002208	C	A	79002208	3	1	125	1	0	0	0	0	1	0	0	0	12826	913	32	3	997	3	PTGFR	1	79002208	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	42444832	79002208	170248413	3	32288											
TCHH	7062	broad.mit.edu	37	chr1	152082631	152082631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagctcgtcttttttgCggtactgcctctcccactcc	8	16	2	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:152082631C>T	ENST00000368804.1	-	2	3061	c.3062G>A	c.(3061-3063)cGc>cAc	p.R1021H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1021	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTTTTTTGCGGTActgcct	0.557													False	0	False	1:152082631	0	T	152082631	C	T	152082631	3	4	125	1	0	0	0	0	1	0	0	0	15782	768	27	1	2773	1	TCHH	1	152082631	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	73080423	152082631	97167990	4	32289											
F5	2153	broad.mit.edu	37	chr1	169510405	169510405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggggaaaggtttgtctgaCtgagttctggagagagagtc	16	5	2	4			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:169510405C>A	ENST00000367796.3	-	13	4139	c.3938G>T	c.(3937-3939)aGt>aTt	p.S1313I	F5_ENST00000367797.3_Missense_Mutation_p.S1308I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1308	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTTTGTCTGACTGAGTTCTGG	0.512													False	0	True	1:169510405	0	A	169510405	C	A	169510405	3	1	125	1	0	0	0	0	1	0	0	0	5381	565	20	3	2803	3	F5	1	169510405	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	17427774	169510405	79740216	5	32290											
KCNH1	3756	broad.mit.edu	37	chr1	211263994	211263994	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactttatcctgttcgtttcGaattggagcaattttcacaa	6	9	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:211263994G>A	ENST00000367007.4	-	4	518	c.349C>T	c.(349-351)Cga>Tga	p.R117*	KCNH1_ENST00000271751.4_Nonsense_Mutation_p.R117*	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	117	PAC.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGTTCGTTTCGAATTGGAGCA	0.378													False	0	False	1:211263994	0	A	211263994	G	A	211263994	4	1	125	1	0	0	0	0	0	1	0	0	8081	1066	37	1	2652	1	KCNH1	1	211263994	Nonsense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	41753589	211263994	37986627	6	32291											
SPATA17	128153	broad.mit.edu	37	chr1	217975123	217975123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaatgcatttatcaagCaagtatggtcctatttctta	5	9	3	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:217975123C>A	ENST00000366933.4	+	9	991	c.936C>A	c.(934-936)agC>agA	p.S312R	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	312						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ATTTATCAAGCAAGTATGGTC	0.294													False	0	True	1:217975123	0	A	217975123	C	A	217975123	3	1	125	1	0	0	0	0	1	0	0	0	15084	709	25	3	970	3	SPATA17	1	217975123	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	6711129	217975123	31275498	7	32292											
EGLN1	54583	broad.mit.edu	37	chr1	231557097	231557097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgtctgcccgttgggccGcaggccgccgccggggctca	15	17	2	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:231557097G>A	ENST00000366641.3	-	1	3693	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	180					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	CCGTTGGGCCGCAGGCCGCCG	0.687													False	0	False	1:231557097	0	A	231557097	G	A	231557097	3	1	125	1	0	0	0	0	1	0	0	0	4998	1086	38	1	762	1	EGLN1	1	231557097	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	13581974	231557097	17693524	8	32293											
FH	2271	broad.mit.edu	37	chr1	241663871	241663871	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catcccccagcagcctggctGagtgtaacacatttttaatc	7	13	0	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:241663871G>T	ENST00000366560.3	-	9	1294	c.1256C>A	c.(1255-1257)tCa>tAa	p.S419*		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	419					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CAGCCTGGCTGAGTGTAACAC	0.438			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer				False	0	False	1:241663871	0	T	241663871	G	T	241663871	4	4	125	1	0	0	0	0	0	1	0	0	5915	1294	45	3	284	3	FH	1	241663871	Nonsense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	10106774	241663871	7586750	9	32294											
NRXN1	9378	broad.mit.edu	37	chr2	51254959	51254959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccccgacgaaaaggccGctgaacaccgtcatgtccct	9	17	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:51254959G>A	ENST00000404971.1	-	2	1792	c.453C>T	c.(451-453)agC>agT	p.S151S	NRXN1_ENST00000401669.2_Silent_p.S151S|NRXN1_ENST00000402717.3_Silent_p.S151S|NRXN1_ENST00000405581.1_Silent_p.S151S|NRXN1_ENST00000405472.3_Silent_p.S151S|NRXN1_ENST00000406316.2_Silent_p.S151S|NRXN1_ENST00000406859.3_Silent_p.S151S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	151	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGAAAAGGCCGCTGAACACCG	0.672													False	0	False	2:51254959	0	A	51254959	G	A	51254959	2	1	125	1	0	0	0	0	0	0	0	1	10733	1078	38	1		1	NRXN1	2	51254959	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		51254959	191944414	10	32295											
RNF181	51255	broad.mit.edu	37	chr2	85824016	85824016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagatgccttgccatcacCttttccattccagctgcatt	6	13	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:85824016C>T	ENST00000441634.1	+	3	328	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	RNF181_ENST00000306368.4_Missense_Mutation_p.L97F			Q9P0P0	RN181_HUMAN	ring finger protein 181	97							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						TTGCCATCACCTTTTCCATTC	0.522													False	0	True	2:85824016	0	T	85824016	C	T	85824016	3	4	125	1	0	0	0	0	1	0	0	0	13544	681	24	2	299	2	RNF181	2	85824016	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	34569057	85824016	157375357	11	32296											
FIGN	55137	broad.mit.edu	37	chr2	164467288	164467288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgaaatgctgttgtcggGcattctgtacataggactct	11	7	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:164467288G>A	ENST00000333129.3	-	3	1368	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	352						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTGTTGTCGGGCATTCTGTAC	0.448													False	0	True	2:164467288	0	A	164467288	G	A	164467288	3	1	125	1	0	0	0	0	1	0	0	0	5931	1203	42	2	1229	2	FIGN	2	164467288	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	78643272	164467288	78732085	12	32297											
UBR3	130507	broad.mit.edu	37	chr2	170814986	170814986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagcagaaattgcttgCggagtttgcttcacgacaga	13	8	1	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:170814986C>T	ENST00000272793.5	+	24	3634	c.3584C>T	c.(3583-3585)gCg>gTg	p.A1195V	UBR3_ENST00000418381.1_Missense_Mutation_p.A1195V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1195					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AAATTGCTTGCGGAGTTTGCT	0.348													False	0	True	2:170814986	0	T	170814986	C	T	170814986	3	4	125	1	0	0	0	0	1	0	0	0	16987	768	27	1	3678	1	UBR3	2	170814986	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	6347698	170814986	72384387	13	32298											
TTN	7273	broad.mit.edu	37	chr2	179476531	179476531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgggttcacttgggtgGccaactccagcttcattttc	10	11	3	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:179476531G>A	ENST00000589042.1	-	268	50729	c.50505C>T	c.(50503-50505)ggC>ggT	p.G16835G	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G7895G|TTN_ENST00000460472.2_Silent_p.G7770G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G7962G|TTN_ENST00000591111.1_Silent_p.G15194G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.G14267G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15194							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTGGGTGGCCAACTCCAG	0.443													False	0	False	2:179476531	0	A	179476531	G	A	179476531	2	1	125	1	0	0	0	0	0	0	0	1	16819	1190	42	2		2	TTN	2	179476531	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	8661545	179476531	63722842	14	32299											
RNF25	64320	broad.mit.edu	37	chr2	219529962	219529962	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacactggacactgcacaccGactgccttctaaaaaagaga	7	13	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:219529962G>A	ENST00000295704.2	-	8	1022	c.582C>T	c.(580-582)gtC>gtT	p.V194V		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	194					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGCACACCGACTGCCTTCT	0.532													False	0	False	2:219529962	0	A	219529962	G	A	219529962	2	1	125	1	0	0	0	0	0	0	0	1	13564	1045	37	1		1	RNF25	2	219529962	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	40053431	219529962	23669411	15	32300											
SPEG	10290	broad.mit.edu	37	chr2	220341686	220341686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgagggaaaaccactgccGgacatcatgtggtacaaggt	13	9	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:220341686G>A	ENST00000312358.7	+	19	4674	c.4542G>A	c.(4540-4542)ccG>ccA	p.P1514P	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1514	Ig-like 8.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AACCACTGCCGGACATCATGT	0.632													False	0	False	2:220341686	0	A	220341686	G	A	220341686	2	1	125	1	0	0	0	0	0	0	0	1	15118	1103	39	1		1	SPEG	2	220341686	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	811724	220341686	22857687	16	32301											
IRS1	3667	broad.mit.edu	37	chr2	227662683	227662683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcatcactcatggcccGcatggcctccaggatggtct	10	14	4	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:227662683G>A	ENST00000305123.5	-	1	1792	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTCATGGCCCGCATGGCCTCC	0.637											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	2:227662683	0	A	227662683	G	A	227662683	3	1	125	1	0	0	0	0	1	0	0	0	7890	1086	38	1	2960	1	IRS1	2	227662683	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	7320997	227662683	15536690	17	32302											
COL6A3	1293	broad.mit.edu	37	chr2	238305387	238305387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcttgctgctgctggGcatgagttgtaggaaagcct	13	9	0	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:238305387G>A	ENST00000295550.4	-	2	526	c.74C>T	c.(73-75)gCc>gTc	p.A25V	COL6A3_ENST00000347401.3_Missense_Mutation_p.A25V|COL6A3_ENST00000392004.3_Missense_Mutation_p.A25V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A25V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A25V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A25V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A25V|COL6A3_ENST00000392003.2_Missense_Mutation_p.A25V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	25					axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCTGCTGGGCATGAGTTGT	0.423													False	0	True	2:238305387	0	A	238305387	G	A	238305387	3	1	125	1	0	0	0	0	1	0	0	0	3724	1203	42	2	9678	2	COL6A3	2	238305387	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	10642704	238305387	4893986	18	32303											
CDCP1	64866	broad.mit.edu	37	chr3	45159953	45159953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattctcaggactctggcaGctaaaggtaaagactattct	9	8	3	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:45159953G>A	ENST00000296129.1	-	2	377	c.243C>T	c.(241-243)agC>agT	p.S81S	CDCP1_ENST00000425231.2_Silent_p.S81S|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	81						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GACTCTGGCAGCTAAAGGTAA	0.393													False	0	False	3:45159953	0	A	45159953	G	A	45159953	2	1	125	1	0	0	0	0	0	0	0	1	3116	962	34	2		2	CDCP1	3	45159953	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		45159953	152862477	19	32304											
SMARCC1	6599	broad.mit.edu	37	chr3	47651727	47651727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatgctgctgctgttccaTttgctgtcgtgctcgtaatt	10	11	0	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:47651727T>C	ENST00000254480.5	-	26	2991	c.2872A>G	c.(2872-2874)Atg>Gtg	p.M958V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	958					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TGCTGTTCCATTTGCTGTCGT	0.542													False	0	True	3:47651727	0	C	47651727	T	C	47651727	3	2	125	1	0	0	0	0	1	0	0	0	14855	1493	52	4	457	4	SMARCC1	3	47651727	Missense_Mutation	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08	2491774	47651727	150370703	20	32305											
GNAT1	2779	broad.mit.edu	37	chr3	50231284	50231284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccactggcatcatcgagaCgcagttctccttcaaggatc	9	13	3	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:50231284C>T	ENST00000232461.3	+	5	662	c.548C>T	c.(547-549)aCg>aTg	p.T183M	GNAT1_ENST00000433068.1_Missense_Mutation_p.T183M|GNAT1_ENST00000481246.1_3'UTR	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	183					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATCATCGAGACGCAGTTCTCC	0.652													False	0	False	3:50231284	0	T	50231284	C	T	50231284	3	4	125	1	0	0	0	0	1	0	0	0	6556	536	19	1	566	1	GNAT1	3	50231284	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	2579557	50231284	147791146	21	32306											
ZIC1	7545	broad.mit.edu	37	chr3	147128819	147128819	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctttccctgccccttccCtggctgtggcaaggtcttcg	10	17	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:147128819C>A	ENST00000282928.4	+	1	1649	c.920C>A	c.(919-921)cCt>cAt	p.P307H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	307					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGCCCCTTCCCTGGCTGTGGC	0.572													False	0	True	3:147128819	0	A	147128819	C	A	147128819	3	1	125	1	0	0	0	0	1	0	0	0	17761	681	24	3	922	3	ZIC1	3	147128819	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	96897535	147128819	50893611	22	32307											
WWTR1	25937	broad.mit.edu	37	chr3	149260145	149260145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatgagctcctcttggcGcattcgaatcctttctctct	6	15	4	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:149260145G>A	ENST00000465804.1	-	5	1004	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	WWTR1_ENST00000467467.1_Missense_Mutation_p.R250C|WWTR1_ENST00000360632.3_Missense_Mutation_p.R250C	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	250					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCCTCTTGGCGCATTCGAATC	0.552			T	CAMTA1	epitheliod hemangioendothelioma								False	0	False	3:149260145	0	A	149260145	G	A	149260145	3	1	125	1	0	0	0	0	1	0	0	0	17501	1087	38	1	470	1	WWTR1	3	149260145	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	2131326	149260145	48762285	23	32308											
PARL	55486	broad.mit.edu	37	chr3	183547482	183547482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaaatcagttcatgaccGtaagtaacataccatctgga	6	10	3	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:183547482G>A	ENST00000317096.4	-	10	1104	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	348					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	p.Y348Y(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTCATGACCGTAAGTAACAT	0.423													False	0	True	3:183547482	0	A	183547482	G	A	183547482	2	1	125	1	0	0	0	0	0	0	0	1	11519	1140	40	1		1	PARL	3	183547482	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	34287337	183547482	14474948	24	32309											
ATP13A5	344905	broad.mit.edu	37	chr3	193039478	193039478	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtgttagtacctgtttcaGatctgcagaacctggccacc	9	11	2	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:193039478G>T	ENST00000342358.4	-	16	2024	c.1907C>A	c.(1906-1908)tCt>tAt	p.S636Y		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	636					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.S636F(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACCTGTTTCAGATCTGCAGAA	0.463													False	0	False	3:193039478	0	T	193039478	G	T	193039478	3	4	125	1	0	0	0	0	1	0	0	0	1131	942	33	3	1807	3	ATP13A5	3	193039478	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	9491996	193039478	4982952	25	32310											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	125	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-Q3-A5QY-01A-12D-A32N-08		78610444	102304816	26	32311											
CHD1	1105	broad.mit.edu	37	chr5	98207791	98207791	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtcaggatccattttaatCatttcccagcttccatatcc	5	12	2	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:98207791C>A	ENST00000284049.3	-	27	3974	c.3825G>T	c.(3823-3825)atG>atT	p.M1275I		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1275					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCATTTTAATCATTTCCCAGC	0.343													False	0	False	5:98207791	0	A	98207791	C	A	98207791	3	1	125	1	0	0	0	0	1	0	0	0	3346	826	29	3	1343	3	CHD1	5	98207791	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	19597347	98207791	82707469	27	32312											
RAPGEF6	51735	broad.mit.edu	37	chr5	130883871	130883872	+	Frame_Shift_Ins	INS	-	-	AATTTACA													atactatcttcattatctttINSggcattctctacctgaaaca							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:130883871_130883872insAATTTACA	ENST00000507093.1	-	6	544_545	c.363_364insTGTAAATT	c.(361-366)gccaaafs	p.K122fs	RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.K122fs|RAPGEF6_ENST00000509018.1_Frame_Shift_Ins_p.K122fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.K122fs|FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.K172fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.K122fs|RAPGEF6_ENST00000503398.2_5'UTR|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.K122fs	NM_001164388.1	NP_001157860.1	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	122					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCATTATCTTTGGCATTCTCTA	0.347													False	0	True	5:130883871	0	AATTTACA	130883872	-	AATTTACA	130883871	7	5	125	1	0	1	1	0	0	0	0	0	13127	1821	63	0	5019	0	RAPGEF6	5	130883871	Frame_Shift_Ins	INS	-	TCGA-Q3-A5QY-01A-12D-A32N-08	32676080	130883871	50031389	28	32313											
EHMT2	10919	broad.mit.edu	37	chr6	31850736	31850736	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcacgcctggttacactcGaaaatcagcggaggctcaat	11	11	2	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:31850736G>A	ENST00000395728.3	-	23	3215	c.3216C>T	c.(3214-3216)ttC>ttT	p.F1072F	EHMT2_ENST00000375530.4_Silent_p.F981F|EHMT2_ENST00000375528.4_Silent_p.F1038F|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.F1015F			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1015	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGTTACACTCGAAAATCAGCG	0.577													False	0	True	6:31850736	0	A	31850736	G	A	31850736	2	1	125	1	0	0	0	0	0	0	0	1	5014	1049	37	1		1	EHMT2	6	31850736	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		31850736	139264331	29	32314											
RXRB	6257	broad.mit.edu	37	chr6	33166123	33166123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattgcacatagccgtttgCcagccccagggccacctgga	11	14	0	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:33166123C>T	ENST00000374680.3	-	3	813	c.602G>A	c.(601-603)gGc>gAc	p.G201D	RXRB_ENST00000374685.4_Missense_Mutation_p.G201D|RXRB_ENST00000544186.1_Missense_Mutation_p.G11D|RXRB_ENST00000413614.2_Missense_Mutation_p.G105D	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	201	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TAGCCGTTTGCCAGCCCCAGG	0.622													False	0	False	6:33166123	0	T	33166123	C	T	33166123	3	4	125	1	0	0	0	0	1	0	0	0	13843	739	26	2	1031	2	RXRB	6	33166123	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	1315387	33166123	137948944	30	32315											
FAM135A	57579	broad.mit.edu	37	chr6	71235945	71235946	+	In_Frame_Ins	INS	-	-	ATACATCTGTGTGAGATTTAATACATCACTATTTTTTTT													agcagtacggatatttctgaINScacatgtgctgttagctaca							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:71235945_71235946insATACATCTGTGTGAGATTTAATACATCACTATTTTTTTT	ENST00000505769.1	+	15	2305_2306	c.1898_1899insATACATCTGTGTGAGATTTAATACATCACTATTTTTTTT	c.(1897-1902)gacaca>gaATACATCTGTGTGAGATTTAATACATCACTATTTTTTTTcaca	p.633_633D>EYICVRFNTSLFFF	FAM135A_ENST00000418814.2_In_Frame_Ins_p.1053_1053D>EYICVRFNTSLFFF|FAM135A_ENST00000370479.3_In_Frame_Ins_p.840_840D>EYICVRFNTSLFFF|FAM135A_ENST00000361499.3_In_Frame_Ins_p.857_857D>EYICVRFNTSLFFF|FAM135A_ENST00000505868.1_In_Frame_Ins_p.1053_1053D>EYICVRFNTSLFFF|FAM135A_ENST00000457062.2_In_Frame_Ins_p.840_840D>EYICVRFNTSLFFF			Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1053										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GATATTTCTGACACATGTGCTG	0.401													False	0	False	6:71235945	0	ATACATCTGTGTGAGATTTAATACATCACTATTTTTTTT	71235946	-	ATACATCTGTGTGAGATTTAATACATCACTATTTTTTTT	71235945	7	5	125	1	0	1	1	0	0	0	0	0	5484	275	10	0	3286	0	FAM135A	6	71235945	In_Frame_Ins	INS	-	TCGA-Q3-A5QY-01A-12D-A32N-08	38069822	71235945	99879122	31	32316											
GRIK2	2898	broad.mit.edu	37	chr6	102134137	102134137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatattaaatacagaaaataCccaagtctcctccatcattg	3	10	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:102134137C>T	ENST00000369138.1	+	6	1350	c.860C>T	c.(859-861)aCc>aTc	p.T287I	GRIK2_ENST00000369134.4_Missense_Mutation_p.T238I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T287I|GRIK2_ENST00000421544.1_Missense_Mutation_p.T287I|GRIK2_ENST00000318991.6_Missense_Mutation_p.T287I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T287I|GRIK2_ENST00000358361.3_Missense_Mutation_p.T287I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	287					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ACAGAAAATACCCAAGTCTCC	0.423													False	0	True	6:102134137	0	T	102134137	C	T	102134137	3	4	125	1	0	0	0	0	1	0	0	0	6821	507	18	2	882	2	GRIK2	6	102134137	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	30898192	102134137	68980930	32	32317											
GLCCI1	113263	broad.mit.edu	37	chr7	8126004	8126004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctttggcaactctgaccGttgagcagctctcatcccgg	10	14	2	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:8126004G>A	ENST00000223145.5	+	8	2037	c.1480G>A	c.(1480-1482)Gtt>Att	p.V494I		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	494										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AACTCTGACCGTTGAGCAGCT	0.552													False	0	False	7:8126004	0	A	8126004	G	A	8126004	3	1	125	1	0	0	0	0	1	0	0	0	6476	1145	40	1	1510	1	GLCCI1	7	8126004	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		8126004	151012659	33	32318											
RFC2	5982	broad.mit.edu	37	chr7	73663432	73663432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaatgcttgtggtcttgCcggttcctggagggccctgg	15	10	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:73663432C>T	ENST00000055077.3	-	4	302	c.242G>A	c.(241-243)gGc>gAc	p.G81D	RFC2_ENST00000352131.3_Missense_Mutation_p.G81D	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	81					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TGTGGTCTTGCCGGTTCCTGG	0.517													False	0	False	7:73663432	0	T	73663432	C	T	73663432	3	4	125	1	0	0	0	0	1	0	0	0	13324	739	26	2	854	2	RFC2	7	73663432	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	65537428	73663432	85475231	34	32319											
SRI	6717	broad.mit.edu	37	chr7	87840221	87840221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcattgaaaccataagccgGcaagtctccaggttaaaagc	9	10	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:87840221G>A	ENST00000265729.2	-	4	277	c.225C>T	c.(223-225)tgC>tgT	p.C75C	SRI_ENST00000490437.1_Silent_p.C32C|SRI_ENST00000394641.3_Silent_p.C60C|SRI_ENST00000431660.1_Silent_p.C60C|SRI_ENST00000419179.1_Silent_p.C75C	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	75	EF-hand 2.				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					CCATAAGCCGGCAAGTCTCCA	0.284													False	0	False	7:87840221	0	A	87840221	G	A	87840221	2	1	125	1	0	0	0	0	0	0	0	1	15231	1195	42	2		2	SRI	7	87840221	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	14176789	87840221	71298442	35	32320											
SAMD9L	219285	broad.mit.edu	37	chr7	92761818	92761818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctcttgaggctttttccGcagcttctaggagatgtgtt	11	8	2	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:92761818G>A	ENST00000318238.4	-	5	4683	c.3467C>T	c.(3466-3468)gCg>gTg	p.A1156V	SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1156V|SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1156V	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1156										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGCTTTTTCCGCAGCTTCTAG	0.413													False	0	False	7:92761818	0	A	92761818	G	A	92761818	3	1	125	1	0	0	0	0	1	0	0	0	13906	1087	38	1	1291	1	SAMD9L	7	92761818	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	4921597	92761818	66376845	36	32321											
RNF133	168433	broad.mit.edu	37	chr7	122338787	122338787	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagtggagcttcttccAaagactccagtctctcccaa	6	13	3	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:122338787A>T	ENST00000340112.2	-	1	423	c.186T>A	c.(184-186)ttT>ttA	p.F62L	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	62						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AGCTTCTTCCAAAGACTCCAG	0.423													False	0	True	7:122338787	0	T	122338787	A	T	122338787	3	4	125	1	0	0	0	0	1	0	0	0	13518	127	5	5	948	5	RNF133	7	122338787	Missense_Mutation	SNP	A	TCGA-Q3-A5QY-01A-12D-A32N-08	29576969	122338787	36799876	37	32322											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732058	37732058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgacagctctggtctgggGagccctcggagaggaaattg	15	9	2	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr8:37732058G>A	ENST00000330843.4	-	3	1609	c.1597C>T	c.(1597-1599)Ccc>Tcc	p.P533S	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P533S|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.P385S|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P385S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	533					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGGTCTGGGGAGCCCTCGGA	0.542													False	0	True	8:37732058	0	A	37732058	G	A	37732058	3	1	125	1	0	0	0	0	1	0	0	0	12972	1174	41	2	2270	2	RAB11FIP1	8	37732058	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		37732058	108631964	38	32323											
LETM2	137994	broad.mit.edu	37	chr8	38261966	38261966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccttttgctcctgtcccGcaccttctacctgatagatg	6	15	1	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr8:38261966G>A	ENST00000379957.4	+	8	1287	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	LETM2_ENST00000297720.5_Missense_Mutation_p.R292H|LETM2_ENST00000527710.1_Missense_Mutation_p.R173H|LETM2_ENST00000524874.1_Missense_Mutation_p.R339H|LETM2_ENST00000523983.2_Missense_Mutation_p.R340H|LETM2_ENST00000528827.1_3'UTR	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	387						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CTCCTGTCCCGCACCTTCTAC	0.557													False	0	True	8:38261966	0	A	38261966	G	A	38261966	3	1	125	1	0	0	0	0	1	0	0	0	8786	1087	38	1	893	1	LETM2	8	38261966	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	529908	38261966	108102056	39	32324											
ZC3H3	23144	broad.mit.edu	37	chr8	144547942	144547942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcagacctcggccttgCgggacacgtacacgtggcta	13	14	0	1	rs113716075	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr8:144547942C>T	ENST00000262577.5	-	9	2283	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	751					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTCGGCCTTGCGGGACACGTA	0.632													False	0	True	8:144547942	0	T	144547942	C	T	144547942	3	4	125	1	0	0	0	0	1	0	0	0	17652	768	27	1	610	1	ZC3H3	8	144547942	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	106285976	144547942	1816080	40	32325											
RLN2	6019	broad.mit.edu	37	chr9	5304440	5304440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctccaggtgctcatgccGcaaatggcaatctgcgcgcg	12	13	2	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:5304440G>A	ENST00000381627.3	-	1	529	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RLN2_ENST00000308420.3_Silent_p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	47					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGCTCATGCCGCAAATGGCAA	0.552													False	0	False	9:5304440	0	A	5304440	G	A	5304440	2	1	125	1	0	0	0	0	0	0	0	1	13471	1079	38	1		1	RLN2	9	5304440	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		5304440	135908991	41	32326											
SMU1	55234	broad.mit.edu	37	chr9	33068870	33068870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcaccacactgacttcGccagctaaggcctgggcaat	12	13	0	1	rs113018466	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													False	0	False	9:33068870	0	A	33068870	G	A	33068870	2	1	125	1	0	0	0	0	0	0	0	1	14897	1074	38	1		1	SMU1	9	33068870	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	27764430	33068870	108144561	42	32327											
KIAA1045	23349	broad.mit.edu	37	chr9	34972446	34972446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgatggctgcctgcgccGcatgggctacatccaaggag	13	13	0	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:34972446G>A	ENST00000242315.3	+	3	564	c.482G>A	c.(481-483)cGc>cAc	p.R161H	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R161H	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	161							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGCCTGCGCCGCATGGGCTAC	0.577													False	0	False	9:34972446	0	A	34972446	G	A	34972446	3	1	125	1	0	0	0	0	1	0	0	0	8257	1087	38	1	488	1	KIAA1045	9	34972446	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1903576	34972446	106240985	43	32328											
C9orf131	138724	broad.mit.edu	37	chr9	35044336	35044336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccccagctcttgcaccGgagctgctcagagttagatc	9	16	2	2	rs115027328	by1000genomes	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:35044336G>A	ENST00000312292.5	+	2	1757	c.1710G>A	c.(1708-1710)ccG>ccA	p.P570P	C9orf131_ENST00000354479.5_Silent_p.P497P|C9orf131_ENST00000421362.2_Silent_p.P522P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	570										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCTTGCACCGGAGCTGCTCA	0.527													False	0	False	9:35044336	0	A	35044336	G	A	35044336	2	1	125	1	0	0	0	0	0	0	0	1	2477	1103	39	1		1	C9orf131	9	35044336	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	71890	35044336	106169095	44	32329											
ZBTB26	57684	broad.mit.edu	37	chr9	125681305	125681305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagtgaaagtcttgccGcagagtagacacataaagag	11	7	2	5			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:125681305G>A	ENST00000373656.3	-	2	982	c.909C>T	c.(907-909)tgC>tgT	p.C303C	ZBTB26_ENST00000373654.1_Silent_p.C303C	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						AAGTCTTGCCGCAGAGTAGAC	0.458													False	0	False	9:125681305	0	A	125681305	G	A	125681305	2	1	125	1	0	0	0	0	0	0	0	1	17616	1079	38	1		1	ZBTB26	9	125681305	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	90636969	125681305	15532126	45	32330											
NEK6	10783	broad.mit.edu	37	chr9	127089667	127089667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgggcgtcgtgaagctcGgtgaccttggtctgggccgc	16	13	1	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:127089667G>A	ENST00000373600.3	+	8	882	c.667G>A	c.(667-669)Ggt>Agt	p.G223S	NEK6_ENST00000320246.5_Missense_Mutation_p.G189S|NEK6_ENST00000545174.1_Missense_Mutation_p.G189S|NEK6_ENST00000373603.1_Missense_Mutation_p.G189S|NEK6_ENST00000394199.2_Missense_Mutation_p.G223S|NEK6_ENST00000540326.1_Missense_Mutation_p.G207S|NEK6_ENST00000539416.1_Missense_Mutation_p.G214S|NEK6_ENST00000546191.1_Missense_Mutation_p.G189S	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	189	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CGTGAAGCTCGGTGACCTTGG	0.632													False	0	False	9:127089667	0	A	127089667	G	A	127089667	3	1	125	1	0	0	0	0	1	0	0	0	10396	1116	39	1	772	1	NEK6	9	127089667	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1408362	127089667	14123764	46	32331											
FUBP3	8939	broad.mit.edu	37	chr9	133499056	133499056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctccggatcggtgtcaGcatgcagcgcatatcatcag	12	13	3	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:133499056G>A	ENST00000319725.9	+	11	1008	c.933G>A	c.(931-933)caG>caA	p.Q311Q		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	311	KH 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		ATCGGTGTCAGCATGCAGCGC	0.547													False	0	False	9:133499056	0	A	133499056	G	A	133499056	2	1	125	1	0	0	0	0	0	0	0	1	6135	962	34	2		2	FUBP3	9	133499056	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	6409389	133499056	7714375	47	32332											
PAPSS2	9060	broad.mit.edu	37	chr10	89503202	89503202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgatgcaggacactcgccGcaggctcctagagaggggct	15	11	0	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr10:89503202G>A	ENST00000361175.4	+	10	1649	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	PAPSS2_ENST00000427144.2_Missense_Mutation_p.R431H|PAPSS2_ENST00000456849.1_Missense_Mutation_p.R432H	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	427					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GACACTCGCCGCAGGCTCCTA	0.582													False	0	False	10:89503202	0	A	89503202	G	A	89503202	3	1	125	1	0	0	0	0	1	0	0	0	11503	1087	38	1	1337	1	PAPSS2	10	89503202	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		89503202	46031545	48	32333											
FAM111B	374393	broad.mit.edu	37	chr11	58892674	58892674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaagttagacggaggccGcatctgggtaggcggtatgc	15	9	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:58892674G>A	ENST00000343597.3	+	4	1295	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	FAM111B_ENST00000411426.1_Silent_p.P338P|FAM111B_ENST00000529618.1_Silent_p.P338P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	368							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GACGGAGGCCGCATCTGGGTA	0.383													False	0	False	11:58892674	0	A	58892674	G	A	58892674	2	1	125	1	0	0	0	0	0	0	0	1	5436	1074	38	1		1	FAM111B	11	58892674	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		58892674	76113842	49	32334											
CD6	923	broad.mit.edu	37	chr11	60778547	60778547	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctttctgacagcttccCggagtttgcacaatctgtcc	10	12	2	1	rs145393446		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:60778547C>A	ENST00000313421.7	+	6	1276	c.1090C>A	c.(1090-1092)Cgg>Agg	p.R364R	CD6_ENST00000344028.5_Silent_p.R364R|CD6_ENST00000352009.5_Silent_p.R364R|CD6_ENST00000452451.2_Silent_p.R364R|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Silent_p.R364R	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	364					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GACAGCTTCCCGGAGTTTGCA	0.512													False	0	True	11:60778547	0	A	60778547	C	A	60778547	2	1	125	1	0	0	0	0	0	0	0	1	3051	643	23	3		3	CD6	11	60778547	Silent	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	1885873	60778547	74227969	50	32335											
DDB1	1642	broad.mit.edu	37	chr11	61081070	61081071	+	Frame_Shift_Ins	INS	-	-	GTGAGTCTCTTTTTCCTTATTTAATGAGAGCTATTGAT													gttgctgctatagatgacagINStggggcggtcagaacaagca							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:61081070_61081071insGTGAGTCTCTTTTTCCTTATTTAATGAGAGCTATTGAT	ENST00000301764.7	-	16	2366_2367	c.1969_1970insATCAATAGCTCTCATTAAATAAGGAAAAAGAGACTCAC	c.(1969-1971)actfs	p.T657fs	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	657	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATAGATGACAGTGGGGCGGTCA	0.49								Nucleotide excision repair (NER)					False	0	True	11:61081070	0	GTGAGTCTCTTTTTCCTTATTTAATGAGAGCTATTGAT	61081071	-	GTGAGTCTCTTTTTCCTTATTTAATGAGAGCTATTGAT	61081070	7	5	125	1	0	1	1	0	0	0	0	0	4348	1029	36	0	1500	0	DDB1	11	61081070	Frame_Shift_Ins	INS	-	TCGA-Q3-A5QY-01A-12D-A32N-08	302523	61081070	73925446	51	32336											
HEPHL1	341208	broad.mit.edu	37	chr11	93800764	93800764	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaatgaaatagacatccAttctatctatttctatggta	8	6	3	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:93800764A>G	ENST00000315765.9	+	5	919	c.911A>G	c.(910-912)cAt>cGt	p.H304R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	304	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATAGACATCCATTCTATCTAT	0.463													False	0	False	11:93800764	0	G	93800764	A	G	93800764	3	3	125	1	0	0	0	0	1	0	0	0	7102	217	8	4	929	4	HEPHL1	11	93800764	Missense_Mutation	SNP	A	TCGA-Q3-A5QY-01A-12D-A32N-08	32719694	93800764	41205752	52	32337											
SIK3	23387	broad.mit.edu	37	chr11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-													ggtattcttgctgttgctgcTgttgctgctgctgctgccgt					rs539858	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596													False	1	True	11:116729011	0	-	116729013	TGT	-	116729011	7	5	125	1	0	1	0	1	0	0	0	0	14400	1580	55	0	955	0	SIK3	11	116729011	In_Frame_Del	DEL	TGT	TCGA-Q3-A5QY-01A-12D-A32N-08	22928247	116729011	18277505	53	32338											
PKNOX2	63876	broad.mit.edu	37	chr11	125280125	125280125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcccccaattccatgtccGgagtctccaataacccccag	5	17	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:125280125G>A	ENST00000298282.9	+	8	893	c.622G>A	c.(622-624)Gga>Aga	p.G208R	PKNOX2_ENST00000542175.1_Missense_Mutation_p.G144R|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	208						nucleus	sequence-specific DNA binding transcription factor activity	p.G208R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TTCCATGTCCGGAGTCTCCAA	0.572													False	0	False	11:125280125	0	A	125280125	G	A	125280125	3	1	125	1	0	0	0	0	1	0	0	0	12052	1117	39	1	640	1	PKNOX2	11	125280125	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	8551114	125280125	9726391	54	32339											
LRTM2	0	broad.mit.edu	37	chr12	1943759	1943759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcatgatggtggtggccGctgcctatggctgcatctac	13	11	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr12:1943759G>A	ENST00000543818.1	+	5	1827	c.985G>A	c.(985-987)Gct>Act	p.A329T	CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.A329T|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.A329T	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	329						integral to membrane		p.A329T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGTGGTGGCCGCTGCCTATGG	0.662													False	0	False	12:1943759	0	A	1943759	G	A	1943759	3	1	125	1	0	0	0	0	1	0	0	0	9107	1087	38	1	995	1	LRTM2	12	1943759	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		1943759	131908136	55	32340											
HERC2	8924	broad.mit.edu	37	chr15	28377973	28377973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacacgagggcggtcacaCggactgcaaaaaagtcacca	11	11	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:28377973C>T	ENST00000261609.7	-	80	12342	c.12234G>A	c.(12232-12234)ccG>ccA	p.P4078P		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4078					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGCGGTCACACGGACTGCAAA	0.463													False	0	False	15:28377973	0	T	28377973	C	T	28377973	2	4	125	1	0	0	0	0	0	0	0	1	7105	523	19	1		1	HERC2	15	28377973	Silent	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08		28377973	74153419	56	32341											
TMCO5A	145942	broad.mit.edu	37	chr15	38234406	38234406	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagaagtaccaggaaacGttgaagaaaatagaagaaga	11	3	0	7			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:38234406G>T	ENST00000558158.1	+	9	673	c.519G>T	c.(517-519)acG>acT	p.T173T	TMCO5A_ENST00000559502.1_Silent_p.T173T|TMCO5A_ENST00000319669.4_Silent_p.T173T|TMCO5A_ENST00000540944.1_Silent_p.T173T			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	173						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						ACCAGGAAACGTTGAAGAAAA	0.373													False	0	False	15:38234406	0	T	38234406	G	T	38234406	2	4	125	1	0	0	0	0	0	0	0	1	16081	1132	40	3		3	TMCO5A	15	38234406	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	9856433	38234406	64296986	57	32342											
C15orf54	400360	broad.mit.edu	37	chr15	39544396	39544396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccccagagggctgagccGcaaagaatttgcagagcctt	12	11	0	5			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:39544396G>A	ENST00000318578.3	+	2	428	c.60G>A	c.(58-60)ccG>ccA	p.P20P	RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	20								p.P20P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGGCTGAGCCGCAAAGAATTT	0.468													False	0	False	15:39544396	0	A	39544396	G	A	39544396	2	1	125	1	0	0	0	0	0	0	0	1	1811	1074	38	1		1	C15orf54	15	39544396	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1309990	39544396	62986996	58	32343											
TGM5	9333	broad.mit.edu	37	chr15	43552730	43552730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcctccgtgtggtgccGcacattatttctggagctct	10	12	3	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:43552730G>A	ENST00000220420.5	-	2	65	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	TGM5_ENST00000349114.4_Missense_Mutation_p.R20W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	20					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GTGTGGTGCCGCACATTATTT	0.587													False	0	False	15:43552730	0	A	43552730	G	A	43552730	3	1	125	1	0	0	0	0	1	0	0	0	15915	1086	38	1	2152	1	TGM5	15	43552730	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	4008334	43552730	58978662	59	32344											
CA12	771	broad.mit.edu	37	chr15	63632565	63632565	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagggggtgtggtcagggaCccccggtagcggtaatattc	16	9	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:63632565C>A	ENST00000178638.3	-	7	1109	c.669G>T	c.(667-669)ggG>ggT	p.G223G	CA12_ENST00000344366.3_Silent_p.G223G|CA12_ENST00000422263.2_Silent_p.G163G	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	223					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	TGGTCAGGGACCCCCGGTAGC	0.562													False	0	True	15:63632565	0	A	63632565	C	A	63632565	2	1	125	1	0	0	0	0	0	0	0	1	2533	494	18	3		3	CA12	15	63632565	Silent	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	20079835	63632565	38898827	60	32345											
CSPG4	1464	broad.mit.edu	37	chr15	75982078	75982078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactcaagccaggctgtgCccccctcggccaccaccagt	8	20	1	0	rs138382756		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:75982078C>T	ENST00000308508.5	-	3	1420	c.1328G>A	c.(1327-1329)gGc>gAc	p.G443D		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	443	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCAGGCTGTGCCCCCCTCGGC	0.642													False	0	True	15:75982078	0	T	75982078	C	T	75982078	3	4	125	1	0	0	0	0	1	0	0	0	3985	739	26	2	5672	2	CSPG4	15	75982078	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	12349513	75982078	26549314	61	32346											
GRIN2A	0	broad.mit.edu	37	chr16	10274159	10274159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtgacccagcatcaccGcaatatttagcgcgggggga	14	11	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:10274159G>A	ENST00000396573.2	-	3	419	c.110C>T	c.(109-111)gCg>gTg	p.A37V	GRIN2A_ENST00000562109.1_Missense_Mutation_p.A37V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A37V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A37V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A37V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	37					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAGCATCACCGCAATATTTAG	0.692													False	0	False	16:10274159	0	A	10274159	G	A	10274159	3	1	125	1	0	0	0	0	1	0	0	0	6826	1087	38	1	4332	1	GRIN2A	16	10274159	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		10274159	80080594	62	32347											
MYH11	4629	broad.mit.edu	37	chr16	15865513	15865513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgggctgctgggatggGcacaaagccattggagagga	16	8	0	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:15865513G>A	ENST00000452625.2	-	10	1054	c.967C>T	c.(967-969)Ccc>Tcc	p.P323S	MYH11_ENST00000396324.3_Missense_Mutation_p.P323S|MYH11_ENST00000576790.2_Missense_Mutation_p.P316S|MYH11_ENST00000300036.5_Missense_Mutation_p.P316S	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	316	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTGGGATGGGCACAAAGCCA	0.517			T	CBFB	AML								False	0	True	16:15865513	0	A	15865513	G	A	15865513	3	1	125	1	0	0	0	0	1	0	0	0	10098	1203	42	2	5139	2	MYH11	16	15865513	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	5591354	15865513	74489240	63	32348											
CX3CL1	6376	broad.mit.edu	37	chr16	57415974	57415974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcacaggctgttctgtgCcgacccgaaggagcaatggg	14	11	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:57415974C>T	ENST00000565912.1	+	2	2816	c.110C>T	c.(109-111)gCc>gTc	p.A37V	CX3CL1_ENST00000563383.1_Missense_Mutation_p.A81V|CX3CL1_ENST00000564948.1_Missense_Mutation_p.P35S|CX3CL1_ENST00000006053.6_Missense_Mutation_p.A75V			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	75	Chemokine.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CTGTTCTGTGCCGACCCGAAG	0.602													False	0	False	16:57415974	0	T	57415974	C	T	57415974	3	4	125	1	0	0	0	0	1	0	0	0	4099	739	26	2	234	2	CX3CL1	16	57415974	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	41550461	57415974	32938779	64	32349											
THAP11	57215	broad.mit.edu	37	chr16	67876803	67876805	+	In_Frame_Del	DEL	CAA	CAA	-													agcagcagcagcaacagcagCaacagcagcagcagcagcaa					rs28434205	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:67876803_67876805delCAA	ENST00000303596.1	+	1	591_593	c.346_348delCAA	c.(346-348)caadel	p.Q132del	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	132	Gln-rich.			Missing (in Ref. 2; AAH12182).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	p.Q116Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		gcaacagcagcaacagcagcagc	0.685													False	1	True	16:67876803	0	-	67876805	CAA	-	67876803	7	5	125	1	0	1	0	1	0	0	0	0	15925	711	25	0	348	0	THAP11	16	67876803	In_Frame_Del	DEL	CAA	TCGA-Q3-A5QY-01A-12D-A32N-08	10460829	67876803	22477950	65	32350											
MED1	5469	broad.mit.edu	37	chr17	37564496	37564496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcacccccatctggccGtccagtgggtcttcaccccc	9	19	4	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:37564496G>A	ENST00000300651.6	-	17	4201	c.3978C>T	c.(3976-3978)gaC>gaT	p.D1326D	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1326	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCATCTGGCCGTCCAGTGGGT	0.512										HNSCC(31;0.082)			False	0	False	17:37564496	0	A	37564496	G	A	37564496	2	1	125	1	0	0	0	0	0	0	0	1	9492	1136	40	1		1	MED1	17	37564496	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		37564496	43630714	66	32351											
CALCOCO2	10241	broad.mit.edu	37	chr17	46926637	46926637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggaagagattgagcaGcacaacaaggagctttgcaa	14	6	0	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:46926637G>A	ENST00000258947.3	+	5	542	c.441G>A	c.(439-441)caG>caA	p.Q147Q	CALCOCO2_ENST00000508679.1_Silent_p.Q75Q|CALCOCO2_ENST00000509507.1_Silent_p.Q168Q|CALCOCO2_ENST00000416445.2_Intron|CALCOCO2_ENST00000448105.2_Silent_p.Q171Q	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	147					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGATTGAGCAGCACAACAAGG	0.468													False	0	False	17:46926637	0	A	46926637	G	A	46926637	2	1	125	1	0	0	0	0	0	0	0	1	2598	962	34	2		2	CALCOCO2	17	46926637	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	9362141	46926637	34268573	67	32352											
LLGL2	3993	broad.mit.edu	37	chr17	73567098	73567098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctggcgcctgtgcagcGcaagatcgaggctcgctcgg	17	12	0	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:73567098G>A	ENST00000392550.3	+	17	2210	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H	LLGL2_ENST00000577200.1_Missense_Mutation_p.R698H|LLGL2_ENST00000167462.5_Missense_Mutation_p.R698H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	698					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTGTGCAGCGCAAGATCGAG	0.642													False	0	False	17:73567098	0	A	73567098	G	A	73567098	3	1	125	1	0	0	0	0	1	0	0	0	8887	1087	38	1	2190	1	LLGL2	17	73567098	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	26640461	73567098	7628112	68	32353											
DSG2	1829	broad.mit.edu	37	chr18	29122723	29122723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgaaaccacgaagaccGcaagggccacaggggcttcc	11	15	0	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr18:29122723G>A	ENST00000261590.8	+	14	2451	c.2242G>A	c.(2242-2244)Gca>Aca	p.A748T	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	748					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CACGAAGACCGCAAGGGCCAC	0.517													False	0	False	18:29122723	0	A	29122723	G	A	29122723	3	1	125	1	0	0	0	0	1	0	0	0	4807	1087	38	1	2296	1	DSG2	18	29122723	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		29122723	48954525	69	32354											
GNA15	2769	broad.mit.edu	37	chr19	3151725	3151725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgtcccacctggagcGcatcaccgaggagggctacg	12	15	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:3151725G>A	ENST00000262958.3	+	4	764	c.506G>A	c.(505-507)cGc>cAc	p.R169H	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	169					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CACCTGGAGCGCATCACCGAG	0.632													False	0	False	19:3151725	0	A	3151725	G	A	3151725	3	1	125	1	0	0	0	0	1	0	0	0	6548	1087	38	1	520	1	GNA15	19	3151725	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		3151725	55977258	70	32355											
C19orf57	79173	broad.mit.edu	37	chr19	14000364	14000364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccggggatgcatgaccGgaatctccagcacccatcat	11	13	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:14000364G>A	ENST00000454313.1	-	6	1363	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	C19orf57_ENST00000586783.1_Silent_p.S435S|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.S435S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	435					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ATGCATGACCGGAATCTCCAG	0.622													False	0	False	19:14000364	0	A	14000364	G	A	14000364	2	1	125	1	0	0	0	0	0	0	0	1	1954	1103	39	1		1	C19orf57	19	14000364	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	10848639	14000364	45128619	71	32356											
ATP1A3	478	broad.mit.edu	37	chr19	42490359	42490359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgatgatcaccacggccGccagcacgatgcccaggtac	11	15	1	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:42490359G>A	ENST00000545399.1	-	5	572	c.419C>T	c.(418-420)gCg>gTg	p.A140V	ATP1A3_ENST00000543770.1_Missense_Mutation_p.A138V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A127V|ATP1A3_ENST00000602133.1_Missense_Mutation_p.A97V	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	127					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CACCACGGCCGCCAGCACGAT	0.607													False	0	False	19:42490359	0	A	42490359	G	A	42490359	3	1	125	1	0	0	0	0	1	0	0	0	1134	1087	38	1	2737	1	ATP1A3	19	42490359	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	28489995	42490359	16638624	72	32357											
PSG9	5678	broad.mit.edu	37	chr19	43763169	43763169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacggggaggctctgaccGtttagccaccaaatgtaggt	13	10	1	2	rs2355449	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:43763169G>A	ENST00000418820.2	-	3	647	c.549C>T	c.(547-549)aaC>aaT	p.N183N	PSG9_ENST00000270077.3_Silent_p.N276N|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Silent_p.N183N|PSG9_ENST00000244293.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	183	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGCTCTGACCGTTTAGCCACC	0.473													False	0	True	19:43763169	0	A	43763169	G	A	43763169	2	1	125	1	0	0	0	0	0	0	0	1	12738	1136	40	1		1	PSG9	19	43763169	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1272810	43763169	15365814	73	32358											
VN1R2	317701	broad.mit.edu	37	chr19	53762737	53762737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttttgttctcatgtgccGtgaccccagcagatccaggc	9	15	1	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:53762737G>A	ENST00000341702.3	+	1	1193	c.1109G>A	c.(1108-1110)cGt>cAt	p.R370H	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	370					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CTCATGTGCCGTGACCCCAGC	0.428													False	0	False	19:53762737	0	A	53762737	G	A	53762737	3	1	125	1	0	0	0	0	1	0	0	0	17263	1145	40	1	1111	1	VN1R2	19	53762737	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	9999568	53762737	5366246	74	32359											
U2AF2	11338	broad.mit.edu	37	chr19	56185361	56185361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcagggcctgacgggccGcaagttcgccaacagagtgg	15	12	0	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:56185361G>A	ENST00000450554.2	+	12	2302	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	U2AF2_ENST00000590551.1_Missense_Mutation_p.R284H|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.R452H|CTD-2537I9.12_ENST00000589456.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	452	RRM 3.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTGACGGGCCGCAAGTTCGCC	0.577													False	0	False	19:56185361	0	A	56185361	G	A	56185361	3	1	125	1	0	0	0	0	1	0	0	0	16907	1087	38	1	1401	1	U2AF2	19	56185361	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	2422624	56185361	2943622	75	32360											
TRIM28	10155	broad.mit.edu	37	chr19	59057217	59057217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagacctgtgtagaggcGcaccagcgggtgaagtacac	15	9	0	3			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:59057217G>A	ENST00000253024.5	+	3	829	c.540G>A	c.(538-540)gcG>gcA	p.A180A	TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	180	RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GTGTAGAGGCGCACCAGCGGG	0.577													False	0	False	19:59057217	0	A	59057217	G	A	59057217	2	1	125	1	0	0	0	0	0	0	0	1	16585	1074	38	1		1	TRIM28	19	59057217	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	2871856	59057217	71766	76	32361											
EEF1A2	1917	broad.mit.edu	37	chr20	62122019	62122019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtgatgttcactggcGcaaaggtcaccaccatgccc	11	13	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr20:62122019G>A	ENST00000217182.3	-	6	1007	c.842C>T	c.(841-843)gCg>gTg	p.A281V	EEF1A2_ENST00000298049.7_Missense_Mutation_p.A281V	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	281						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GTTCACTGGCGCAAAGGTCAC	0.637													False	0	False	20:62122019	0	A	62122019	G	A	62122019	3	1	125	1	0	0	0	0	1	0	0	0	4954	1087	38	1	561	1	EEF1A2	20	62122019	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		62122019	903501	77	32362											
BRWD1	54014	broad.mit.edu	37	chr21	40630429	40630429	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacctctccggggtgtttcTtcaccatttgaaagtcctct	7	12	4	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr21:40630429T>C	ENST00000342449.3	-	18	2133	c.2055A>G	c.(2053-2055)gaA>gaG	p.E685E	BRWD1_ENST00000333229.2_Silent_p.E685E|BRWD1_ENST00000380800.3_Silent_p.E685E	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GGGGTGTTTCTTCACCATTTG	0.388													False	0	False	21:40630429	0	C	40630429	T	C	40630429	2	2	125	1	0	0	0	0	0	0	0	1	1532	1606	56	4		4	BRWD1	21	40630429	Silent	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08		40630429	7499466	78	32363											
PI4KA	5297	broad.mit.edu	37	chr22	21161674	21161674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtagtacagagtgtcacGcagcatcttgaacatggtca	10	9	3	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:21161674G>A	ENST00000255882.6	-	10	1230	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	PI4KA_ENST00000572273.1_Missense_Mutation_p.R324C	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	324					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGAGTGTCACGCAGCATCTTG	0.527													False	0	False	22:21161674	0	A	21161674	G	A	21161674	3	1	125	1	0	0	0	0	1	0	0	0	11942	1087	38	1	5348	1	PI4KA	22	21161674	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		21161674	30142892	79	32364											
TRIOBP	11078	broad.mit.edu	37	chr22	38120997	38120997	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccatcagagccacccaaCaggacaaccccagaacttgt	6	17	1	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:38120997C>T	ENST00000406386.3	+	7	2689	c.2434C>T	c.(2434-2436)Cag>Tag	p.Q812*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	812					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCCACCCAACAGGACAACCC	0.517													False	0	False	22:38120997	0	T	38120997	C	T	38120997	4	4	125	1	0	0	0	0	0	1	0	0	16636	479	17	2	2452	2	TRIOBP	22	38120997	Nonsense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	16959323	38120997	13183569	80	32365											
XRCC6	2547	broad.mit.edu	37	chr22	42018069	42018069	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaagcagaggaagaacaaGaagagaaccttgaagcaagt	12	5	0	6			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:42018069G>A	ENST00000359308.4	+	1	716	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	XRCC6_ENST00000405878.1_Missense_Mutation_p.E21K|XRCC6_ENST00000428575.2_5'UTR|XRCC6_ENST00000360079.3_Missense_Mutation_p.E21K|XRCC6_ENST00000405506.1_Silent_p.K8K|XRCC6_ENST00000402580.3_Missense_Mutation_p.E21K			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	21	Asp/Glu-rich (acidic).|Ser-rich (potentially targets for phosphorylation).				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAGAACAAGAAGAGAACCT	0.483								Non-homologous end-joining					False	0	False	22:42018069	0	A	42018069	G	A	42018069	3	1	125	1	0	0	0	0	1	0	0	0	17541	943	33	2	63	2	XRCC6	22	42018069	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	3897072	42018069	9286497	81	32366											
TTLL8	164714	broad.mit.edu	37	chr22	50487686	50487686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggggacgtaccatcacgtCgtggatgttgtctgttttct	12	9	3	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:50487686C>T	ENST00000266182.6	-	3	255	c.256G>A	c.(256-258)Gac>Aac	p.D86N	TTLL8_ENST00000440475.1_Missense_Mutation_p.D86N|TTLL8_ENST00000477219.1_5'UTR					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		ACCATCACGTCGTGGATGTTG	0.527													False	0	False	22:50487686	0	T	50487686	C	T	50487686	3	4	125	1	0	0	0	0	1	0	0	0	16817	884	31	1	2295	1	TTLL8	22	50487686	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	8469617	50487686	816880	82	32367											
FAM9A	171482	broad.mit.edu	37	chrX	8763328	8763348	+	In_Frame_Del	DEL	CTGCTGCTGCTGCGGCTTCTG	CTGCTGCTGCTGCGGCTTCTG	-													tgctgctgctgctgcggcttCtgctgctgctgcggcttctg							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	CTGCTGCTGCTGCGGCTTCTG	CTGCTGCTGCTGCGGCTTCTG	-	-	CTGCTGCTGCTGCGGCTTCTG	CTGCTGCTGCTGCGGCTTCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:8763328_8763348delCTGCTGCTGCTGCGGCTTCTG	ENST00000543214.1	-	7	737_757	c.602_622delCAGAAGCCGCAGCAGCAGCAG	c.(601-624)gcagaagccgcagcagcagcagaa>gaa	p.AEAAAAA201del	FAM9A_ENST00000381003.3_In_Frame_Del_p.AEAAAAA201del	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	201	Glu-rich.|Poly-Ala.					nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				gctgcggcttctgctgctgctgcggcttctgctgctgctgc	0.493													False	1	True	X:8763328	0	-	8763348	CTGCTGCTGCTGCGGCTTCTG	-	8763328	7	5	125	1	0	1	0	1	0	0	0	0	5699	922	32	0	388	0	FAM9A	23	8763328	In_Frame_Del	DEL	CTGCTGCTGCTGCGGCTTCTG	TCGA-Q3-A5QY-01A-12D-A32N-08		8763328	146507232	83	32368											
DMD	1756	broad.mit.edu	37	chrX	31222081	31222081	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgaataacttacaaaTtggaagcagctccggacact	10	8	0	1	rs12690372	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:31222081T>C	ENST00000357033.4	-	67	10010	c.9804A>G	c.(9802-9804)caA>caG	p.Q3268Q	DMD_ENST00000343523.2_Silent_p.Q808Q|DMD_ENST00000541735.1_Silent_p.Q808Q|DMD_ENST00000474231.1_Silent_p.Q808Q|DMD_ENST00000378680.2_Silent_p.Q200Q|DMD_ENST00000378723.3_Silent_p.Q200Q|DMD_ENST00000378677.2_Silent_p.Q3264Q|DMD_ENST00000361471.4_Silent_p.Q200Q|DMD_ENST00000378707.3_Silent_p.Q808Q|DMD_ENST00000359836.1_Silent_p.Q808Q|DMD_ENST00000378702.4_Silent_p.Q200Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3268	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACTTACAAATTGGAAGCAGC	0.383													False	0	True	X:31222081	0	C	31222081	T	C	31222081	2	2	125	1	0	0	0	0	0	0	0	1	4610	1490	52	4		4	DMD	23	31222081	Silent	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08	22458753	31222081	124048479	84	32369											
PGAM4	441531	broad.mit.edu	37	chrX	77224547	77224547	+	Missense_Mutation	SNP	C	C	G													ctcttcagagagaccctccaCatgcttggcaatgccctgga					rs148072662		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:77224547C>G	ENST00000458128.1	-	1	588	c.589G>C	c.(589-591)Gtg>Ctg	p.V197L	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	197					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						AGACCCTCCACATGCTTGGCA	0.507													False	0	False	X:77224547	0	G	77224547	C	G	77224547	3	3	125	1	0	0	0	0	1	0	0	0	11844	478	17	5	179	5	PGAM4	23	77224547	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	46002466	77224547	78046013	85	32370	380	2									
PGAM4	441531	broad.mit.edu	37	chrX	77224555	77224555	+	Missense_Mutation	SNP	G	G	A													agagaccctccacatgcttgGcaatgccctggaggctgttg							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:77224555G>A	ENST00000458128.1	-	1	580	c.581C>T	c.(580-582)gCc>gTc	p.A194V	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	194					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CACATGCTTGGCAATGCCCTG	0.517													False	0	False	X:77224555	0	A	77224555	G	A	77224555	3	1	125	1	0	0	0	0	1	0	0	0	11844	1203	42	2	187	2	PGAM4	23	77224555	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	8	77224555	78046005	86	32371	380	2									
IRS4	8471	broad.mit.edu	37	chrX	107978822	107978822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacacagccggaacacgccGctcagctcttttctgtgccc	9	16	3	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:107978822G>A	ENST00000372129.2	-	1	829	c.753C>T	c.(751-753)agC>agT	p.S251S		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	251	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGAACACGCCGCTCAGCTCTT	0.627													False	0	False	X:107978822	0	A	107978822	G	A	107978822	2	1	125	1	0	0	0	0	0	0	0	1	7892	1078	38	1		1	IRS4	23	107978822	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	30754267	107978822	47291738	87	32372											
PTPRF	5792	broad.mit.edu	37	chr1	44064491	44064491	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccagcaagcagcatggccaGatccgcggctaccaggtcac	11	16	1	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:44064491G>A	ENST00000359947.4	+	13	2560	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	PTPRF_ENST00000372414.3_Silent_p.Q740Q|PTPRF_ENST00000438120.1_Silent_p.Q740Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.Q97Q|PTPRF_ENST00000372413.3_Silent_p.Q740Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	740	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCATGGCCAGATCCGCGGCT	0.647													False	0	False	1:44064491	0	A	44064491	G	A	44064491	2	1	126	1	0	0	0	0	0	0	0	1	12880	933	33	2		2	PTPRF	1	44064491	Silent	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		44064491	205186130	1	32373											
PRPF38A	84950	broad.mit.edu	37	chr1	52870463	52870463	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatgcgcacagcatccatggCaccaaccctcaatatctggt	8	14	2	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:52870463C>G	ENST00000257181.9	+	1	228	c.42C>G	c.(40-42)ggC>ggG	p.G14G	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	14					mRNA processing|RNA splicing	spliceosomal complex				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GCATCCATGGCACCAACCCTC	0.463											OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:52870463	0	G	52870463	C	G	52870463	2	3	126	1	0	0	0	0	0	0	0	1	12643	697	25	5		5	PRPF38A	1	52870463	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	8805972	52870463	196380158	2	32374											
GBP1	2633	broad.mit.edu	37	chr1	89528769	89528769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcatcaggtaggatttgCctgtgcggtagaggcccaca	13	9	2	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:89528769C>T	ENST00000370473.4	-	2	368	c.149G>A	c.(148-150)gGc>gAc	p.G50D		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	50					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GTAGGATTTGCCTGTGCGGTA	0.517													False	0	False	1:89528769	0	T	89528769	C	T	89528769	3	4	126	1	0	0	0	0	1	0	0	0	6316	739	26	2	1669	2	GBP1	1	89528769	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	36658306	89528769	159721852	3	32375											
BCL9	607	broad.mit.edu	37	chr1	147084715	147084715	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggaggtgatggtccgTccccctacagtgatgtcccc	12	13	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:147084715T>C	ENST00000234739.3	+	5	827	c.87T>C	c.(85-87)cgT>cgC	p.R29R	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	29					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGATGGTCCGTCCCCCTACAG	0.502			T	"IGH@, IGL@"	B-ALL								False	0	True	1:147084715	0	C	147084715	T	C	147084715	2	2	126	1	0	0	0	0	0	0	0	1	1385	1654	58	4		4	BCL9	1	147084715	Silent	SNP	T	TCGA-Q3-AA2A-01A-11D-A377-08	57555946	147084715	102165906	4	32376											
ZNF687	57592	broad.mit.edu	37	chr1	151259929	151259929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtccaaaggtggtgagcGtacagttgggtgatggtaca	17	5	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:151259929G>A	ENST00000368879.2	+	2	1260	c.1162G>A	c.(1162-1164)Gta>Ata	p.V388I		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGGTGAGCGTACAGTTGGG	0.597													False	0	False	1:151259929	0	A	151259929	G	A	151259929	3	1	126	1	0	0	0	0	1	0	0	0	18175	1145	40	1	1164	1	ZNF687	1	151259929	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	4175214	151259929	97990692	5	32377											
ITGB1BP1	9270	broad.mit.edu	37	chr2	9547660	9547660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccagtaagctttttcccGcccccagaccgtcatcgtaa	8	15	1	1	rs17850889	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:9547660G>A	ENST00000360635.3	-	7	1345	c.449C>T	c.(448-450)gCg>gTg	p.A150V	ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000490426.1_5'UTR			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	150	PID.			A -> V (in Ref. 4; AAH12264).	cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		GCTTTTTCCCGCCCCCAGACC	0.483													False	0	True	2:9547660	0	A	9547660	G	A	9547660	3	1	126	1	0	0	0	0	1	0	0	0	7941	1087	38	1	161	1	ITGB1BP1	2	9547660	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		9547660	233651713	6	32378											
SLC1A4	6509	broad.mit.edu	37	chr2	65245311	65245311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaccgtgaacatggacGgagcagccatcttccagtgt	13	12	1	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:65245311G>A	ENST00000234256.3	+	6	1384	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R	SLC1A4_ENST00000531327.1_Missense_Mutation_p.G83R	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	381					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	GAACATGGACGGAGCAGCCAT	0.512													False	0	False	2:65245311	0	A	65245311	G	A	65245311	3	1	126	1	0	0	0	0	1	0	0	0	14515	1117	39	1	1163	1	SLC1A4	2	65245311	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	55697651	65245311	177954062	7	32379											
TTN	7273	broad.mit.edu	37	chr2	179410378	179410378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgatgatatgctctttgCcagtcccaacttcttcaggt	8	10	3	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:179410378C>T	ENST00000589042.1	-	344	95683	c.95459G>A	c.(95458-95460)gGc>gAc	p.G31820D	TTN_ENST00000342175.6_Missense_Mutation_p.G22947D|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22880D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G30179D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G29252D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G22755D|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30179	Fibronectin type-III 131.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTCTTTGCCAGTCCCAAC	0.423													False	0	False	2:179410378	0	T	179410378	C	T	179410378	3	4	126	1	0	0	0	0	1	0	0	0	16819	739	26	2	12596	2	TTN	2	179410378	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	114165067	179410378	63788995	8	32380											
CNTN3	5067	broad.mit.edu	37	chr3	74344358	74344358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaagataggctatttgCagagacttgagatggggcca	15	5	0	4			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:74344358C>T	ENST00000263665.6	-	18	2458	c.2431G>A	c.(2431-2433)Gca>Aca	p.A811T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	811	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGGCTATTTGCAGAGACTTGA	0.383													False	0	False	3:74344358	0	T	74344358	C	T	74344358	3	4	126	1	0	0	0	0	1	0	0	0	3665	710	25	2	675	2	CNTN3	3	74344358	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08		74344358	123678072	9	32381											
GABRR3	200959	broad.mit.edu	37	chr3	97744480	97744480	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcatatttctgaggccGcgctttggtactgtcatctt	9	10	4	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:97744480G>A	ENST00000472788.1	-	0	170					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						TTCTGAGGCCGCGCTTTGGTA	0.383													False	0	False	3:97744480	0	A	97744480	G	A	97744480	1	1	126	0	1	0	0	0	0	0	0	0	6220	1086	38	1		1	GABRR3	3	97744480	RNA	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	23400122	97744480	100277950	10	32382											
UROC1	131669	broad.mit.edu	37	chr3	126218205	126218205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtgctgcacataggaagGgtagcggaactctgtcctgc	14	9	1	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:126218205G>T	ENST00000290868.2	-	13	1344	c.1291C>A	c.(1291-1293)Cct>Act	p.P431T	UROC1_ENST00000383579.3_Missense_Mutation_p.P491T	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	431					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACATAGGAAGGGTAGCGGAAC	0.627													False	0	True	3:126218205	0	T	126218205	G	T	126218205	3	4	126	1	0	0	0	0	1	0	0	0	17112	1232	43	3	771	3	UROC1	3	126218205	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	28473725	126218205	71804225	11	32383											
HGFAC	3083	broad.mit.edu	37	chr4	3449269	3449269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccagcacttcttcaaccGcacgacggacgtgacgcaga	12	14	2	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:3449269G>A	ENST00000382774.3	+	11	1521	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	HGFAC_ENST00000511533.1_Missense_Mutation_p.R476H	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	469	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TTCTTCAACCGCACGACGGAC	0.662													False	0	False	4:3449269	0	A	3449269	G	A	3449269	3	1	126	1	0	0	0	0	1	0	0	0	7133	1087	38	1	1448	1	HGFAC	4	3449269	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		3449269	187705007	12	32384											
C4orf50	389197	broad.mit.edu	37	chr4	5969155	5969155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgacctcttaaagctgccGtcatctcagacttgacgtcc	7	14	3	3			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:5969155G>A	ENST00000531445.1	-	5	1911	c.1865C>T	c.(1864-1866)aCg>aTg	p.T622M	C4orf50_ENST00000324058.5_Missense_Mutation_p.T148M			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	148										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TAAAGCTGCCGTCATCTCAGA	0.532													False	0	False	4:5969155	0	A	5969155	G	A	5969155	3	1	126	1	0	0	0	0	1	0	0	0	2293	1145	40	1	399	1	C4orf50	4	5969155	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	2519886	5969155	185185121	13	32385											
BMP3	651	broad.mit.edu	37	chr4	81967241	81967241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcataggatttaacattacGtccaagggacgccagctgcc	9	12	1	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:81967241G>A	ENST00000282701.2	+	2	986	c.666G>A	c.(664-666)acG>acA	p.T222T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	222			T -> M (in dbSNP:rs34505126).		cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TTAACATTACGTCCAAGGGAC	0.438													False	0	False	4:81967241	0	A	81967241	G	A	81967241	2	1	126	1	0	0	0	0	0	0	0	1	1466	1132	40	1		1	BMP3	4	81967241	Silent	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	75998086	81967241	109187035	14	32386											
HERC6	55008	broad.mit.edu	37	chr4	89334269	89334269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatctgctcagagctcttcCatgccattctccacaccaag	6	15	4	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:89334269C>A	ENST00000380265.5	+	12	1592	c.1409C>A	c.(1408-1410)cCa>cAa	p.P470Q	HERC6_ENST00000264346.7_Missense_Mutation_p.P470Q	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	470					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AGAGCTCTTCCATGCCATTCT	0.448													False	0	False	4:89334269	0	A	89334269	C	A	89334269	3	1	126	1	0	0	0	0	1	0	0	0	7109	594	21	3	1252	3	HERC6	4	89334269	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	7367028	89334269	101820007	15	32387											
SMARCAD1	56916	broad.mit.edu	37	chr4	95198287	95198287	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtagcaccagtgaaataCgaagaatgttttcctctaag	9	7	1	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:95198287C>T	ENST00000354268.4	+	16	2132	c.2059C>T	c.(2059-2061)Cga>Tga	p.R687*	SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.R257*|SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.R687*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	687					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CAGTGAAATACGAAGAATGTT	0.378													False	0	False	4:95198287	0	T	95198287	C	T	95198287	4	4	126	1	0	0	0	0	0	1	0	0	14852	528	19	1	2117	1	SMARCAD1	4	95198287	Nonsense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	5864018	95198287	95955989	16	32388											
OSMR	9180	broad.mit.edu	37	chr5	38881767	38881767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctgagctccctttggaaTgtgccacacactttgtaaga	8	10	1	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:38881767T>C	ENST00000274276.3	+	4	721	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R	OSMR_ENST00000502536.1_Missense_Mutation_p.C107R	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	107					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CCCTTTGGAATGTGCCACACA	0.473													False	0	False	5:38881767	0	C	38881767	T	C	38881767	3	2	126	1	0	0	0	0	1	0	0	0	11360	1464	51	4	329	4	OSMR	5	38881767	Missense_Mutation	SNP	T	TCGA-Q3-AA2A-01A-11D-A377-08		38881767	142033493	17	32389											
PCDHGA10	0	broad.mit.edu	37	chr5	140794655	140794655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggcgcgagccctgctggAcagagacgcgctcaagcaaa	13	14	1	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:140794655A>G	ENST00000398610.2	+	1	1913	c.1913A>G	c.(1912-1914)gAc>gGc	p.D638G	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGCTGGACAGAGACGCG	0.701													False	0	False	5:140794655	0	G	140794655	A	G	140794655	3	3	126	1	0	0	0	0	1	0	0	0	11619	275	10	4	1915	4	PCDHGA10	5	140794655	Missense_Mutation	SNP	A	TCGA-Q3-AA2A-01A-11D-A377-08	101912888	140794655	40120605	18	32390											
GALNT10	55568	broad.mit.edu	37	chr5	153760011	153760011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttggcttcttcagaccGcattgctcggaaccgcaaga	9	13	3	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:153760011G>A	ENST00000297107.6	+	6	895	c.758G>A	c.(757-759)cGc>cAc	p.R253H	GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H|GALNT10_ENST00000519544.1_3'UTR	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	253	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCTTCAGACCGCATTGCTCGG	0.502													False	0	False	5:153760011	0	A	153760011	G	A	153760011	3	1	126	1	0	0	0	0	1	0	0	0	6251	1087	38	1	780	1	GALNT10	5	153760011	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	12965356	153760011	27155249	19	32391											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	126	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-Q3-AA2A-01A-11D-A377-08		7393450	163721617	20	32392											
HCRTR2	3062	broad.mit.edu	37	chr6	55039393	55039393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgagcccgtgatgtccgGcaccaaattggaggactccc	11	13	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:55039393G>A	ENST00000370862.3	+	1	344	c.8G>A	c.(7-9)gGc>gAc	p.G3D		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	3					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGATGTCCGGCACCAAATTG	0.577													False	0	False	6:55039393	0	A	55039393	G	A	55039393	3	1	126	1	0	0	0	0	1	0	0	0	7049	1203	42	2	10	2	HCRTR2	6	55039393	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	47645943	55039393	116075674	21	32393											
ELOVL4	6785	broad.mit.edu	37	chr6	80635984	80635984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcactagacgcatctgaaaaGgttctcggtccttcatccat	8	12	3	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:80635984G>T	ENST00000369816.4	-	2	515	c.215C>A	c.(214-216)cCt>cAt	p.P72H		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	72					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CATCTGAAAAGGTTCTCGGTC	0.393													False	0	True	6:80635984	0	T	80635984	G	T	80635984	3	4	126	1	0	0	0	0	1	0	0	0	5108	1000	35	3	749	3	ELOVL4	6	80635984	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	25596591	80635984	90479083	22	32394											
ZFAND2A	90637	broad.mit.edu	37	chr7	1195155	1195155	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaccaaccaccacgtcTggtatctggcccttttttac	6	14	3	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:1195155T>A	ENST00000401903.1	-	4	475	c.216A>T	c.(214-216)ccA>ccT	p.P72P	ZFAND2A_ENST00000316495.3_Silent_p.P72P			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	72						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		CCACCACGTCTGGTATCTGGC	0.483													False	0	False	7:1195155	0	A	1195155	T	A	1195155	2	1	126	1	0	0	0	0	0	0	0	1	17710	1567	55	5		5	ZFAND2A	7	1195155	Silent	SNP	T	TCGA-Q3-AA2A-01A-11D-A377-08		1195155	157943508	23	32395											
KRIT1	889	broad.mit.edu	37	chr7	91865794	91865794	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggattcactacagactcGcataatatcttgtaagcagt	7	9	2	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:91865794G>A	ENST00000394507.1	-	8	1201	c.418C>T	c.(418-420)Cga>Tga	p.R140*	KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000340022.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R140*	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	140					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	p.R140*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTACAGACTCGCATAATATCT	0.318													False	0	False	7:91865794	0	A	91865794	G	A	91865794	4	1	126	1	0	0	0	0	0	1	0	0	8495	1095	38	1	1844	1	KRIT1	7	91865794	Nonsense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	90670639	91865794	67272869	24	32396											
MOSPD3	64598	broad.mit.edu	37	chr7	100211247	100211247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagcgtacccccttgaGcttcagggacagccagatcc	10	17	1	2	rs5886124		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:100211247G>A	ENST00000393950.2	+	3	711	c.429G>A	c.(427-429)gaG>gaA	p.E143E	MOSPD3_ENST00000424091.2_Silent_p.E133E|MOSPD3_ENST00000223054.4_Silent_p.E143E|MOSPD3_ENST00000379527.2_Silent_p.E143E	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	143	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCCCCTTGAGCTTCAGGGAC	0.637													False	0	False	7:100211247	0	A	100211247	G	A	100211247	2	1	126	1	0	0	0	0	0	0	0	1	9784	962	34	2		2	MOSPD3	7	100211247	Silent	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	8345453	100211247	58927416	25	32397											
FOXP2	93986	broad.mit.edu	37	chr7	114294032	114294032	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgacccacttgcacatgCgaccctcagagcccaaacca	7	16	1	3			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:114294032C>T	ENST00000393500.3	+	16	1829	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	FOXP2_ENST00000350908.4_Nonsense_Mutation_p.R412*|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.R320*|FOXP2_ENST00000390668.3_Nonsense_Mutation_p.R436*|FOXP2_ENST00000393494.2_Nonsense_Mutation_p.R412*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.R320*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.R391*|FOXP2_ENST00000360232.4_Nonsense_Mutation_p.R412*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.R437*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.R429*			O15409	FOXP2_HUMAN	forkhead box P2	412					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTTGCACATGCGACCCTCAGA	0.398													False	0	False	7:114294032	0	T	114294032	C	T	114294032	4	4	126	1	0	0	0	0	0	1	0	0	6069	760	27	1	1402	1	FOXP2	7	114294032	Nonsense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	14082785	114294032	44844631	26	32398											
CSMD1	64478	broad.mit.edu	37	chr8	2820823	2820823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgagagagctggtaaccGtccatgcagctgtaacttat	12	8	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:2820823G>A	ENST00000602557.1	-	61	9933	c.9378C>T	c.(9376-9378)gaC>gaT	p.D3126D	CSMD1_ENST00000400186.3_Silent_p.D2949D|CSMD1_ENST00000542608.1_Silent_p.D2948D|CSMD1_ENST00000602723.1_Silent_p.D2949D|CSMD1_ENST00000520002.1_Silent_p.D3126D|CSMD1_ENST00000537824.1_Silent_p.D3125D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3126	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGGTAACCGTCCATGCAGC	0.562													False	0	False	8:2820823	0	A	2820823	G	A	2820823	2	1	126	1	0	0	0	0	0	0	0	1	3969	1136	40	1		1	CSMD1	8	2820823	Silent	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		2820823	143543199	27	32399											
IDO1	3620	broad.mit.edu	37	chr8	39775722	39775722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggtcatggagatgtccGtaaggtttggagattttctc	12	6	2	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:39775722G>A	ENST00000518237.1	+	3	938	c.299G>A	c.(298-300)cGt>cAt	p.R100H	RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R100H|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	100					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GGAGATGTCCGTAAGGTTTGG	0.393													False	0	False	8:39775722	0	A	39775722	G	A	39775722	3	1	126	1	0	0	0	0	1	0	0	0	7551	1145	40	1	309	1	IDO1	8	39775722	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	36954899	39775722	106588300	28	32400											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744099	70744099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccattccaatgagaatctgCgcgcaaatgaataaagccac	7	12	1	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:70744099C>T	ENST00000260126.4	-	2	1516	c.810G>A	c.(808-810)gcG>gcA	p.A270A	SLCO5A1_ENST00000530307.1_Silent_p.A270A|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.A270A	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity	p.A270A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGAGAATCTGCGCGCAAATGA	0.502													False	0	True	8:70744099	0	T	70744099	C	T	70744099	2	4	126	1	0	0	0	0	0	0	0	1	14811	755	27	1		1	SLCO5A1	8	70744099	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	30968377	70744099	75619923	29	32401											
C9orf24	84688	broad.mit.edu	37	chr9	34381380	34381380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttaccgtaggcattgagCcgctccggcctaggagggca	13	12	1	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:34381380C>T	ENST00000297623.2	-	4	657	c.459G>A	c.(457-459)cgG>cgA	p.R153R	C9orf24_ENST00000379127.1_Silent_p.R18R|C9orf24_ENST00000379124.1_Silent_p.R18R|C9orf24_ENST00000379133.3_Silent_p.R18R|C9orf24_ENST00000379126.3_Silent_p.R18R	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	153										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		AGGCATTGAGCCGCTCCGGCC	0.612													False	0	False	9:34381380	0	T	34381380	C	T	34381380	2	4	126	1	0	0	0	0	0	0	0	1	2495	726	26	2		2	C9orf24	9	34381380	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08		34381380	106832051	30	32402											
MELK	9833	broad.mit.edu	37	chr9	36589550	36589550	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagagtgatttgccccggatCaaaacggagattgaggcctt	12	9	1	4			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:36589550C>A	ENST00000543751.1	+	3	211	c.66C>A	c.(64-66)atC>atA	p.I22I	MELK_ENST00000541717.1_Silent_p.I54I|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000298048.2_Silent_p.I54I|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000545008.1_Silent_p.I54I|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000536329.1_Intron|MELK_ENST00000536860.1_Silent_p.I54I	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	54	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TGCCCCGGATCAAAACGGAGA	0.403													False	0	True	9:36589550	0	A	36589550	C	A	36589550	2	1	126	1	0	0	0	0	0	0	0	1	9537	816	29	3		3	MELK	9	36589550	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	2208170	36589550	104623881	31	32403											
CBWD3	445571	broad.mit.edu	37	chr9	70871889	70871889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattagggagtgatatttaCcttgatggtaagttaaaaaa	10	2	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294													False	0	False	9:70871889	0	T	70871889	C	T	70871889	2	4	126	1	0	0	0	0	0	0	0	1	2734	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	34282339	70871889	70341542	32	32404											
FAM13C	220965	broad.mit.edu	37	chr10	61028449	61028449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgtgaagaactccgcGgcctgcagtgattacaagga	13	10	0	3	rs138913406	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:61028449G>A	ENST00000373867.3	-	9	1022	c.557C>T	c.(556-558)cCg>cTg	p.P186L	FAM13C_ENST00000419214.2_Missense_Mutation_p.P269L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P290L|FAM13C_ENST00000422313.2_Missense_Mutation_p.P269L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P186L|FAM13C_ENST00000373868.2_Missense_Mutation_p.P269L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P269L|FAM13C_ENST00000442566.3_Missense_Mutation_p.P290L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	269										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAACTCCGCGGCCTGCAGTG	0.493													False	0	False	10:61028449	0	A	61028449	G	A	61028449	3	1	126	1	0	0	0	0	1	0	0	0	5490	1116	39	1	979	1	FAM13C	10	61028449	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		61028449	74506298	33	32405											
PPP1R3C	5507	broad.mit.edu	37	chr10	93389892	93389892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctataattctgaccatcaTtgttgtcccaaaagacttgc	5	10	3	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:93389892T>C	ENST00000238994.5	-	2	830	c.746A>G	c.(745-747)aAt>aGt	p.N249S		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	249	CBM21.|Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				CTGACCATCATTGTTGTCCCA	0.453													False	0	False	10:93389892	0	C	93389892	T	C	93389892	3	2	126	1	0	0	0	0	1	0	0	0	12447	1493	52	4	211	4	PPP1R3C	10	93389892	Missense_Mutation	SNP	T	TCGA-Q3-AA2A-01A-11D-A377-08	32361443	93389892	42144855	34	32406											
SORCS1	114815	broad.mit.edu	37	chr10	108923788	108923788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgagtctcccgtcagcGcaaacgtggtgctggtcagt	14	11	3	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:108923788G>A	ENST00000263054.6	-	1	504	c.497C>T	c.(496-498)gCg>gTg	p.A166V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A166V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	166						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCCGTCAGCGCAAACGTGGT	0.607													False	0	False	10:108923788	0	A	108923788	G	A	108923788	3	1	126	1	0	0	0	0	1	0	0	0	15010	1087	38	1	3347	1	SORCS1	10	108923788	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	15533896	108923788	26610959	35	32407											
HRASLS5	117245	broad.mit.edu	37	chr11	63257751	63257751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgttctaatgtgcccGgcggaggctgcttggctggg	16	11	1	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:63257751G>A	ENST00000540857.1	-	2	335	c.203C>T	c.(202-204)cCg>cTg	p.P68L	HRASLS5_ENST00000539221.1_Missense_Mutation_p.P78L|HRASLS5_ENST00000301790.4_Missense_Mutation_p.P78L	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	78										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAATGTGCCCGGCGGAGGCTG	0.493													False	0	True	11:63257751	0	A	63257751	G	A	63257751	3	1	126	1	0	0	0	0	1	0	0	0	7398	1116	39	1	626	1	HRASLS5	11	63257751	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		63257751	71748765	36	32408											
CCDC87	55231	broad.mit.edu	37	chr11	66358359	66358359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggcagctgcctcaggcGggctttggagctatatttaa	13	8	1	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:66358359G>A	ENST00000333861.3	-	1	2195	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	710										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGCCTCAGGCGGGCTTTGGAG	0.557													False	0	True	11:66358359	0	A	66358359	G	A	66358359	3	1	126	1	0	0	0	0	1	0	0	0	2883	1116	39	1	425	1	CCDC87	11	66358359	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	3100608	66358359	68648157	37	32409											
ITFG2	55846	broad.mit.edu	37	chr12	2929350	2929350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtcctgaacatctgacaGggcagctggtgtccctcaag	13	11	2	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:2929350G>A	ENST00000228799.2	+	5	644	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	ITFG2_ENST00000542548.1_Missense_Mutation_p.G57R|ITFG2_ENST00000419778.2_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	169										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACATCTGACAGGGCAGCTGGT	0.597													False	0	True	12:2929350	0	A	2929350	G	A	2929350	3	1	126	1	0	0	0	0	1	0	0	0	7920	1000	35	2	523	2	ITFG2	12	2929350	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		2929350	130922545	38	32410											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	126	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	22468934	25398284	108453611	39	32411											
FMNL3	91010	broad.mit.edu	37	chr12	50047068	50047068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctctagttctgccacccGcatcatgttttcattctcta	4	14	5	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:50047068G>A	ENST00000335154.5	-	13	1497	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	FMNL3_ENST00000293590.5_Missense_Mutation_p.R422W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R422W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R371W	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	422	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCTGCCACCCGCATCATGTTT	0.542													False	0	True	12:50047068	0	A	50047068	G	A	50047068	3	1	126	1	0	0	0	0	1	0	0	0	5993	1086	38	1	1875	1	FMNL3	12	50047068	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	24648784	50047068	83804827	40	32412											
BTBD11	121551	broad.mit.edu	37	chr12	107937864	107937864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatgcactgcccacaaatgGaatgggaaaaccccaacgtg	9	12	1	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:107937864G>A	ENST00000280758.5	+	3	1966	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	BTBD11_ENST00000420571.2_Missense_Mutation_p.E480K|BTBD11_ENST00000490090.2_Missense_Mutation_p.E480K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	480						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCCACAAATGGAATGGGAAAA	0.582													False	0	True	12:107937864	0	A	107937864	G	A	107937864	3	1	126	1	0	0	0	0	1	0	0	0	1546	1175	41	2	1448	2	BTBD11	12	107937864	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	57890796	107937864	25914031	41	32413											
SKA3	221150	broad.mit.edu	37	chr13	21729289	21729290	+	Splice_Site	INS	-	-	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAAC													ggatagatccactggaatttINSctgcaacagatacaaataac							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:21729289_21729290insCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAAC	ENST00000400018.3	-	8	1189	c.1120_1120insGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG	c.(1120-1122)aaa>GTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTGaaa	p.373_374insVP*TWTEHPRCQQQRKL	SKA3_ENST00000314759.5_Stop_Codon_Ins	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	373					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CACTGGAATTTCTGCAACAGAT	0.337													False	0	True	13:21729289	0	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAAC	21729290	-	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAAC	21729289	8	5	126	1	0	1	1	0	0	0	1	0	14435	1797	62	0	50	0	SKA3	13	21729289	Splice_Site	INS	-	TCGA-Q3-AA2A-01A-11D-A377-08		21729289	93440589	42	32414											
MTUS2	23281	broad.mit.edu	37	chr13	29600312	29600312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggaccctcaaagtggcCgctcagaagcacgggaaagc	12	14	2	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:29600312C>T	ENST00000431530.3	+	1	1565	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	493						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCAAAGTGGCCGCTCAGAAGC	0.502													False	0	False	13:29600312	0	T	29600312	C	T	29600312	3	4	126	1	0	0	0	0	1	0	0	0	10033	652	23	1	1509	1	MTUS2	13	29600312	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	7871023	29600312	85569566	43	32415											
MAB21L1	4081	broad.mit.edu	37	chr13	36049899	36049899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacctggaccggattttgCgcgccgagaggtagccggag	16	10	0	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:36049899C>T	ENST00000379919.4	-	1	933	c.377G>A	c.(376-378)cGc>cAc	p.R126H	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	126					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CCGGATTTTGCGCGCCGAGAG	0.587													False	0	True	13:36049899	0	T	36049899	C	T	36049899	3	4	126	1	0	0	0	0	1	0	0	0	9204	768	27	1	706	1	MAB21L1	13	36049899	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	6449587	36049899	79119979	44	32416											
TFDP1	7027	broad.mit.edu	37	chr13	114265370	114265370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaccagaaccttagtccCgggaaaggtaagggcacctg	12	10	0	2	rs144432965	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:114265370C>T	ENST00000375370.5	+	3	284	c.72C>T	c.(70-72)ccC>ccT	p.P24P	TFDP1_ENST00000538138.1_5'UTR|TFDP1_ENST00000544902.1_5'UTR|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	24					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ACCTTAGTCCCGGGAAAGGTA	0.443										TSP Lung(29;0.18)			False	0	True	13:114265370	0	T	114265370	C	T	114265370	2	4	126	1	0	0	0	0	0	0	0	1	15879	639	23	1		1	TFDP1	13	114265370	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	78215471	114265370	904508	45	32417											
RNASE7	84659	broad.mit.edu	37	chr14	21511178	21511178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggccagagcaggattctgCccccttctgctgcttctgct	10	16	3	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr14:21511178C>T	ENST00000298690.4	+	2	284	c.27C>T	c.(25-27)tgC>tgT	p.C9C	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	9					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CAGGATTCTGCCCCCTTCTGC	0.572													False	0	True	14:21511178	0	T	21511178	C	T	21511178	2	4	126	1	0	0	0	0	0	0	0	1	13487	747	26	2		2	RNASE7	14	21511178	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08		21511178	85838362	46	32418											
C15orf59	388135	broad.mit.edu	37	chr15	74032307	74032307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgtgtagggcagaaccGtctgcgtgctcttgtctgac	14	10	3	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:74032307G>A	ENST00000569673.1	-	3	2037	c.833C>T	c.(832-834)aCg>aTg	p.T278M	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.T278M			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	278										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGCAGAACCGTCTGCGTGCT	0.592													False	0	False	15:74032307	0	A	74032307	G	A	74032307	3	1	126	1	0	0	0	0	1	0	0	0	1816	1145	40	1	52	1	C15orf59	15	74032307	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		74032307	28499085	47	32419											
USP7	7874	broad.mit.edu	37	chr16	8988948	8988948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacctctttgtggaaatgCgccactgtgacaagcatctc	9	11	2	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:8988948C>T	ENST00000344836.4	-	28	3177	c.2979G>A	c.(2977-2979)gcG>gcA	p.A993A	USP7_ENST00000535863.1_Silent_p.A894A|USP7_ENST00000381886.4_Silent_p.A977A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	993					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.A993A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGTGGAAATGCGCCACTGTGA	0.502													False	0	False	16:8988948	0	T	8988948	C	T	8988948	2	4	126	1	0	0	0	0	0	0	0	1	17172	755	27	1		1	USP7	16	8988948	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08		8988948	81365805	48	32420											
AARS	16	broad.mit.edu	37	chr16	70301695	70301696	+	Frame_Shift_Ins	INS	-	-	T													tgtctgggtccttcttcagcINStcaggaaatgcatctccctg							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:70301695_70301696insT	ENST00000261772.8	-	9	1231_1232	c.1088_1089insA	c.(1087-1089)gagfs	p.E363fs		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	363					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CCTTCTTCAGCTCAGGAAATGC	0.51											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	1	False	16:70301695	0	T	70301696	-	T	70301695	7	5	126	1	0	1	1	0	0	0	0	0	19	796	28	0	1869	0	AARS	16	70301695	Frame_Shift_Ins	INS	-	TCGA-Q3-AA2A-01A-11D-A377-08	61312747	70301695	20053058	49	32421											
DNAH2	146754	broad.mit.edu	37	chr17	7708357	7708357	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaatgcccagaaagatctaGaagaggcactgcccgccctg	10	13	1	4			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708357G>C	ENST00000572933.1	+	60	10725	c.9265G>C	c.(9265-9267)Gaa>Caa	p.E3089Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3089Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3089	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAAAGATCTAGAAGAGGCACT	0.582													False	0	False	17:7708357	0	C	7708357	G	C	7708357	3	2	126	1	0	0	0	0	1	0	0	0	4632	943	33	5	9499	5	DNAH2	17	7708357	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		7708357	73486853	50	32422			1	21		3	3	316	G		2.179391e-07
DNAH2	146754	broad.mit.edu	37	chr17	7708641	7708641	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggcccccagcccaagtggaGatagtgatgcaggcagttat	13	11	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708641G>C	ENST00000572933.1	+	61	10832	c.9372G>C	c.(9370-9372)gaG>gaC	p.E3124D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3124D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3124	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCAAGTGGAGATAGTGATGC	0.507													False	0	False	17:7708641	0	C	7708641	G	C	7708641	3	2	126	1	0	0	0	0	1	0	0	0	4632	933	33	5	9610	5	DNAH2	17	7708641	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	284	7708641	73486569	51	32423			1	21		3	3	316	G		2.179391e-07
DNAH2	146754	broad.mit.edu	37	chr17	7708672	7708672	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggcagttatgattcttcgaGgcaacgagcccacatgggca	12	10	1	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708672G>C	ENST00000572933.1	+	61	10863	c.9403G>C	c.(9403-9405)Ggc>Cgc	p.G3135R	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3135R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3135	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATTCTTCGAGGCAACGAGCC	0.502													False	0	False	17:7708672	0	C	7708672	G	C	7708672	3	2	126	1	0	0	0	0	1	0	0	0	4632	1000	35	5	9641	5	DNAH2	17	7708672	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	31	7708672	73486538	52	32424			1	21		3	3	316	G		2.179391e-07
RPL19	6143	broad.mit.edu	37	chr17	37360818	37360818	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtctaagaccaaggaagcaCgcaagcgccgtgaagagcgc	14	11	1	3			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:37360818C>G	ENST00000579260.1	+	6	905	c.502C>G	c.(502-504)Cgc>Ggc	p.R168G	RPL19_ENST00000582193.1_Missense_Mutation_p.R168G|RPL19_ENST00000579374.1_Missense_Mutation_p.R167G|RPL19_ENST00000225430.4_Missense_Mutation_p.R170G			P84098	RL19_HUMAN	ribosomal protein L19	170					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						CAAGGAAGCACGCAAGCGCCG	0.527													False	0	False	17:37360818	0	G	37360818	C	G	37360818	3	3	126	1	0	0	0	0	1	0	0	0	13645	536	19	5	530	5	RPL19	17	37360818	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	29652146	37360818	43834392	53	32425											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240817	39240818	+	Frame_Shift_Ins	INS	-	-	TCGC													tgctgccgcccctgctgctgINScctgcgtccagtctgtggcc							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:39240817_39240818insTCGC	ENST00000391417.4	+	1	359_360	c.359_360insTCGC	c.(358-363)tgcctgfs	p.L121fs		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ccctgctgctgcCTGCGTCCAG	0.658													False	0	True	17:39240817	0	TCGC	39240818	-	TCGC	39240817	7	5	126	1	0	1	1	0	0	0	0	0	8606	1319	46	0	361	0	KRTAP4-7	17	39240817	Frame_Shift_Ins	INS	-	TCGA-Q3-AA2A-01A-11D-A377-08	1879999	39240817	41954393	54	32426											
SLC14A2	8170	broad.mit.edu	37	chr18	43246996	43246996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggctgccagtgggaaaAgggtcagcaaagccctcagc	13	12	2	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr18:43246996A>G	ENST00000255226.6	+	13	2470	c.1654A>G	c.(1654-1656)Agg>Ggg	p.R552G	SLC14A2_ENST00000589658.1_Missense_Mutation_p.R29G|SLC14A2_ENST00000586448.1_Missense_Mutation_p.R552G	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	552						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGGGAAAAGGGTCAGCAA	0.478													False	0	True	18:43246996	0	G	43246996	A	G	43246996	3	3	126	1	0	0	0	0	1	0	0	0	14478	63	3	4	1700	4	SLC14A2	18	43246996	Missense_Mutation	SNP	A	TCGA-Q3-AA2A-01A-11D-A377-08		43246996	34830252	55	32427											
CELF5	60680	broad.mit.edu	37	chr19	3290280	3290280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcccccaggagtttggagAcacggagctgacgcagatgt	13	12	0	3			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:3290280A>G	ENST00000292672.2	+	11	1275	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	CELF5_ENST00000541430.2_Silent_p.R374R	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	413	RRM 3.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GAGTTTGGAGACACGGAGCTG	0.542													False	0	False	19:3290280	0	G	3290280	A	G	3290280	3	3	126	1	0	0	0	0	1	0	0	0	3242	275	10	4	1280	4	CELF5	19	3290280	Missense_Mutation	SNP	A	TCGA-Q3-AA2A-01A-11D-A377-08		3290280	55838703	56	32428											
KPTN	11133	broad.mit.edu	37	chr19	47986554	47986554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccacgcctcactcacggGcaatagagtcaaggttgtac	10	13	3	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:47986554G>A	ENST00000338134.3	-	3	499	c.392C>T	c.(391-393)gCc>gTc	p.A131V	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	131					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TCACTCACGGGCAATAGAGTC	0.617											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:47986554	0	A	47986554	G	A	47986554	3	1	126	1	0	0	0	0	1	0	0	0	8487	1203	42	2	958	2	KPTN	19	47986554	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	44696274	47986554	11142429	57	32429											
TSKS	60385	broad.mit.edu	37	chr19	50243356	50243356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtaggttcttggcccGcagggcctcgtcttgggcca	14	13	2	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:50243356G>A	ENST00000246801.3	-	10	1664	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	TSKS_ENST00000358830.3_Missense_Mutation_p.R328W	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	528							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTCTTGGCCCGCAGGGCCTCG	0.627													False	0	True	19:50243356	0	A	50243356	G	A	50243356	3	1	126	1	0	0	0	0	1	0	0	0	16709	1086	38	1	204	1	TSKS	19	50243356	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	2256802	50243356	8885627	58	32430											
ZNFX1	57169	broad.mit.edu	37	chr20	47871123	47871123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctttctgctgatgtgcgGtactggcgttcatagctgag	12	8	3	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:47871123G>A	ENST00000396105.1	-	10	3114	c.2868C>T	c.(2866-2868)taC>taT	p.Y956Y	ZNFX1_ENST00000371752.1_Silent_p.Y956Y|ZNFX1_ENST00000371754.4_Silent_p.Y956Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	956							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGATGTGCGGTACTGGCGTT	0.512													False	0	False	20:47871123	0	A	47871123	G	A	47871123	2	1	126	1	0	0	0	0	0	0	0	1	18287	1256	44	2		2	ZNFX1	20	47871123	Silent	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		47871123	15154397	59	32431											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978232	45978232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagacgggcacacagcagaTgggcttgcagcagacaggct	15	11	0	3			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr21:45978232T>C	ENST00000391620.1	-	1	411	c.367A>G	c.(367-369)Atc>Gtc	p.I123V	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	123	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						acacagcagatgggcttgcag	0.652													False	0	True	21:45978232	0	C	45978232	T	C	45978232	3	2	126	1	0	0	0	0	1	0	0	0	8560	1464	51	4	302	4	KRTAP10-3	21	45978232	Missense_Mutation	SNP	T	TCGA-Q3-AA2A-01A-11D-A377-08		45978232	2151663	60	32432											
CLTCL1	8218	broad.mit.edu	37	chr22	19209057	19209057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtcgatgtagattttaGccagtgcattgtgagtggca	13	6	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr22:19209057G>T	ENST00000263200.10	-	17	2711	c.2639C>A	c.(2638-2640)gCt>gAt	p.A880D	CLTCL1_ENST00000427926.1_Missense_Mutation_p.A880D|CLTCL1_ENST00000353891.5_Missense_Mutation_p.A880D	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	880	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GTAGATTTTAGCCAGTGCATT	0.547			T	?	ALCL								False	0	False	22:19209057	0	T	19209057	G	T	19209057	3	4	126	1	0	0	0	0	1	0	0	0	3590	971	34	3	2347	3	CLTCL1	22	19209057	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		19209057	32095509	61	32433											
PLXNB2	23654	broad.mit.edu	37	chr22	50722589	50722589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgtcgatattcttgccGtaagacttgacgtagaggtg	12	7	1	3			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr22:50722589G>A	ENST00000449103.1	-	13	2375	c.2235C>T	c.(2233-2235)taC>taT	p.Y745Y	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Silent_p.Y745Y			O15031	PLXB2_HUMAN	plexin B2	745					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.Y788Y(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TATTCTTGCCGTAAGACTTGA	0.677													False	0	False	22:50722589	0	A	50722589	G	A	50722589	2	1	126	1	0	0	0	0	0	0	0	1	12193	1140	40	1		1	PLXNB2	22	50722589	Silent	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	31513532	50722589	581977	62	32434											
PDHA1	5160	broad.mit.edu	37	chrX	19369427	19369427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgggcctggaggccgGcatcaaccccacagaccatc	12	15	1	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:19369427G>A	ENST00000379806.5	+	5	579	c.434G>A	c.(433-435)gGc>gAc	p.G145D	PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CTGGAGGCCGGCATCAACCCC	0.507													False	0	False	X:19369427	0	A	19369427	G	A	19369427	3	1	126	1	0	0	0	0	1	0	0	0	11732	1203	42	2	473	2	PDHA1	23	19369427	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		19369427	135901133	63	32435											
ATRX	546	broad.mit.edu	37	chrX	76918967	76918967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacagtcaatttgtgccGcaaaagcctatgtctgtatc	7	11	3	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:76918967G>A	ENST00000373344.5	-	12	4238	c.4024C>T	c.(4024-4026)Cgg>Tgg	p.R1342W	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1304W	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1342					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R1342W(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATTTGTGCCGCAAAAGCCTA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						False	0	False	X:76918967	0	A	76918967	G	A	76918967	3	1	126	1	0	0	0	0	1	0	0	0	1212	1086	38	1	3550	1	ATRX	23	76918967	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	57549540	76918967	78351593	64	32436											
HMGB3	3149	broad.mit.edu	37	chrX	150156378	150156378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaataaagaaactgttt	18	1	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:150156378G>T	ENST00000325307.7	+	5	690	c.594G>T	c.(592-594)gaG>gaT	p.E198D	HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaTGAATAAA	0.463													False	0	True	X:150156378	0	T	150156378	G	T	150156378	3	4	126	1	0	0	0	0	1	0	0	0	7274	991	35	3	608	3	HMGB3	23	150156378	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	73237411	150156378	5114182	65	32437											
CELA2A	63036	broad.mit.edu	37	chr1	15783633	15783633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtgactagggtggttggCggtgaagaagcgaggcccaa	17	6	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:15783633C>T	ENST00000359621.4	+	2	118	c.93C>T	c.(91-93)ggC>ggT	p.G31G	CELA2A_ENST00000497590.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	31	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GGGTGGTTGGCGGTGAAGAAG	0.577													False	0	False	1:15783633	0	T	15783633	C	T	15783633	2	4	127	1	0	0	0	0	0	0	0	1	3234	755	27	1		1	CELA2A	1	15783633	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		15783633	233466988	1	32438											
SLC6A9	6536	broad.mit.edu	37	chr1	44468618	44468618	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggcagccgcacctccccAaagttcccaatgtcatctga	9	15	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:44468618A>G	ENST00000372310.3	-	6	795	c.630T>C	c.(628-630)ttT>ttC	p.F210F	SLC6A9_ENST00000537678.1_Silent_p.F145F|SLC6A9_ENST00000360584.2_Silent_p.F283F|SLC6A9_ENST00000372306.3_Silent_p.F210F|SLC6A9_ENST00000357730.2_Silent_p.F229F|SLC6A9_ENST00000372307.3_Silent_p.F145F|SLC6A9_ENST00000475075.2_Silent_p.F99F	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	283						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCACCTCCCCAAAGTTCCCAA	0.592													False	0	True	1:44468618	0	G	44468618	A	G	44468618	2	3	127	1	0	0	0	0	0	0	0	1	14771	127	5	4		4	SLC6A9	1	44468618	Silent	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	28684985	44468618	204782003	2	32439											
SLC5A9	200010	broad.mit.edu	37	chr1	48694800	48694800	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcaaggtctggaggagAcagagggatccatccaaggt	14	7	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:48694800A>T	ENST00000236495.5	+	4	415	c.365A>T	c.(364-366)gAc>gTc	p.D122V	SLC5A9_ENST00000533824.1_Missense_Mutation_p.D122V|SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000438567.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						tctggaggagacagagggatc	0.527													False	0	False	1:48694800	0	T	48694800	A	T	48694800	3	4	127	1	0	0	0	0	1	0	0	0	14752	275	10	5	379	5	SLC5A9	1	48694800	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	4226182	48694800	200555821	3	32440											
COL11A1	1301	broad.mit.edu	37	chr1	103483426	103483426	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggggccttgtagacctggagGacccataataccctatagag	12	10	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:103483426G>T	ENST00000358392.2	-	11	1716	c.1399C>A	c.(1399-1401)Cct>Act	p.P467T	COL11A1_ENST00000370096.3_Missense_Mutation_p.P455T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P416T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P339T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	455	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGACCTGGAGGACCCATAATA	0.418													False	0	False	1:103483426	0	T	103483426	G	T	103483426	3	4	127	1	0	0	0	0	1	0	0	0	3690	1174	41	3	4285	3	COL11A1	1	103483426	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	54788626	103483426	145767195	4	32441											
ALX3	257	broad.mit.edu	37	chr1	110607330	110607330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaatgtgctgaaggtcGtgcggttacgacgcttcttg	15	8	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:110607330G>A	ENST00000369792.4	-	2	560	c.473C>T	c.(472-474)aCg>aTg	p.T158M		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTGAAGGTCGTGCGGTTACG	0.597													False	0	False	1:110607330	0	A	110607330	G	A	110607330	3	1	127	1	0	0	0	0	1	0	0	0	557	1145	40	1	570	1	ALX3	1	110607330	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	7123904	110607330	138643291	5	32442											
SETDB1	9869	broad.mit.edu	37	chr1	150921863	150921863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcttggaaagccagcttgCccagtcacggaagcaggtag	13	10	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:150921863C>T	ENST00000271640.5	+	12	1632	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	SETDB1_ENST00000368969.4_Missense_Mutation_p.A481V|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCCAGCTTGCCCAGTCACGG	0.443													False	0	True	1:150921863	0	T	150921863	C	T	150921863	3	4	127	1	0	0	0	0	1	0	0	0	14219	739	26	2	1484	2	SETDB1	1	150921863	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	40314533	150921863	98328758	6	32443											
FLG	2312	broad.mit.edu	37	chr1	152277587	152277587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgtgaccggctctgtcttCgtgatgggacctggggtgtc	15	12	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:152277587C>T	ENST00000368799.1	-	3	9810	c.9775G>A	c.(9775-9777)Gaa>Aaa	p.E3259K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3259	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGTCTTCGTGATGGGAC	0.582									Ichthyosis				False	0	False	1:152277587	0	T	152277587	C	T	152277587	3	4	127	1	0	0	0	0	1	0	0	0	5962	893	31	1	2414	1	FLG	1	152277587	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	1355724	152277587	96973034	7	32444											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	127	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-RB-A7B8-01A-12D-A33T-08	393928	152671515	96579106	8	32445											
AQP10	89872	broad.mit.edu	37	chr1	154295786	154295786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagacagcctccatttttgCcacctatcctgccccctatc	6	17	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:154295786C>T	ENST00000484864.1	+	4	476	c.440C>T	c.(439-441)gCc>gTc	p.A147V	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.A147V			Q96PS8	AQP10_HUMAN	aquaporin 10	147					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCATTTTTGCCACCTATCCT	0.557													False	0	False	1:154295786	0	T	154295786	C	T	154295786	3	4	127	1	0	0	0	0	1	0	0	0	824	739	26	2	454	2	AQP10	1	154295786	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	1624271	154295786	94954835	9	32446											
MYOC	4653	broad.mit.edu	37	chr1	171605766	171605766	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtgggcttggggtctcGcatccacacaccatacttgc	12	12	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:171605766G>A	ENST00000037502.6	-	3	885	c.814C>T	c.(814-816)Cga>Tga	p.R272*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response		Olfactomedin-like.		R -> G (in GLC1A; could be a polymorphism).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.R272*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTGGGGTCTCGCATCCACACA	0.512													False	0	False	1:171605766	0	A	171605766	G	A	171605766	4	1	127	1	0	0	0	0	0	1	0	0	10153	1095	38	1	704	1	MYOC	1	171605766	Nonsense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	17309980	171605766	77644855	10	32447											
CACNA1E	777	broad.mit.edu	37	chr1	181690939	181690939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgatgtacaatgggatcCgctcccagggtggggtcagc	16	9	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:181690939C>T	ENST00000526775.1	+	16	2167	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R275C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R668C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R619C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R668C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R619C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R668C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	668					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R668C(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAATGGGATCCGCTCCCAGGG	0.507													False	0	False	1:181690939	0	T	181690939	C	T	181690939	3	4	127	1	0	0	0	0	1	0	0	0	2562	652	23	1	2064	1	CACNA1E	1	181690939	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	10085173	181690939	67559682	11	32448											
RNASEL	6041	broad.mit.edu	37	chr1	182555377	182555377	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacatctgcccccatctcatCaaggagaatcttcaagacct	5	14	5	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:182555377C>A	ENST00000367559.3	-	2	818	c.565G>T	c.(565-567)Gat>Tat	p.D189Y	RNASEL_ENST00000539397.1_Missense_Mutation_p.D189Y|RNASEL_ENST00000444138.1_Missense_Mutation_p.D189Y	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	189					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CCCATCTCATCAAGGAGAATC	0.502													False	0	False	1:182555377	0	A	182555377	C	A	182555377	3	1	127	1	0	0	0	0	1	0	0	0	13495	826	29	3	1684	3	RNASEL	1	182555377	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	864438	182555377	66695244	12	32449											
KLHDC8A	55220	broad.mit.edu	37	chr1	205307704	205307704	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttgaggaagaacgatcGttccatcttcagccatcccc	7	14	3	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:205307704G>A	ENST00000367156.3	-	8	1594	c.778C>T	c.(778-780)Cga>Tga	p.R260*	KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R147*|KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.R126*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	260										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AAGAACGATCGTTCCATCTTC	0.517													False	0	False	1:205307704	0	A	205307704	G	A	205307704	4	1	127	1	0	0	0	0	0	1	0	0	8412	1153	40	1	282	1	KLHDC8A	1	205307704	Nonsense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	22752327	205307704	43942917	13	32450											
HIST3H2BB	128312	broad.mit.edu	37	chr1	228646127	228646127	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgaagtgcagacggccgtTcgcctgctgctgcccggcga	15	15	0	1	rs145799075	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:228646127T>G	ENST00000369160.2	+	1	320	c.297T>G	c.(295-297)gtT>gtG	p.V99V		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	99					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				AGACGGCCGTTCGCCTGCTGC	0.652													False	0	False	1:228646127	0	G	228646127	T	G	228646127	2	3	127	1	0	0	0	0	0	0	0	1	7230	1770	62	4		4	HIST3H2BB	1	228646127	Silent	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	23338423	228646127	20604494	14	32451											
RAB10	10890	broad.mit.edu	37	chr2	26257554	26257554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggggaagacctgcgtccTttttcgtttttcggatgatg	13	7	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:26257554T>C	ENST00000264710.4	+	1	576	c.77T>C	c.(76-78)cTt>cCt	p.L26P		NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	26					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGCGTCCTTTTTCGTTTT	0.537													False	0	True	2:26257554	0	C	26257554	T	C	26257554	3	2	127	1	0	0	0	0	1	0	0	0	12969	1609	56	4	79	4	RAB10	2	26257554	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08		26257554	216941819	15	32452											
CNNM4	26504	broad.mit.edu	37	chr2	97463316	97463316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctctgccttcaaggatgCggacaatgagctcaaagtga	10	10	3	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:97463316C>T	ENST00000377075.2	+	3	1711	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Missense_Mutation_p.A25V	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	538					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TTCAAGGATGCGGACAATGAG	0.562													False	0	False	2:97463316	0	T	97463316	C	T	97463316	3	4	127	1	0	0	0	0	1	0	0	0	3638	768	27	1	1623	1	CNNM4	2	97463316	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	71205762	97463316	145736057	16	32453											
VWA3B	200403	broad.mit.edu	37	chr2	98736133	98736133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagtgctggattttggcgGcattctggagggggagcttg	17	6	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:98736133G>A	ENST00000477737.1	+	4	653	c.449G>A	c.(448-450)gGc>gAc	p.G150D	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	150										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GATTTTGGCGGCATTCTGGAG	0.522													False	0	False	2:98736133	0	A	98736133	G	A	98736133	3	1	127	1	0	0	0	0	1	0	0	0	17325	1203	42	2	459	2	VWA3B	2	98736133	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1272817	98736133	144463240	17	32454											
NPAS2	4862	broad.mit.edu	37	chr2	101592029	101592029	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaggcagccaccatgccGgtaagtgtgtgaccccaaac	11	14	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:101592029G>A	ENST00000335681.5	+	14	1677	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Splice_Site_p.P529P	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	464					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACCATGCCGGTAAGTGTGT	0.622													False	0	False	2:101592029	0	A	101592029	G	A	101592029	5	1	127	1	0	0	0	0	0	0	1	0	10631	1130	39	1	1442	1	NPAS2	2	101592029	Splice_Site	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	2855896	101592029	141607344	18	32455											
CKAP2L	150468	broad.mit.edu	37	chr2	113514269	113514269	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaactgaacttttgcccaAggcttgtttaggaactaaac	7	8	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:113514269A>C	ENST00000541405.1	-	4	707	c.184T>G	c.(184-186)Ttg>Gtg	p.L62V	CKAP2L_ENST00000302450.6_Missense_Mutation_p.L227V			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	227			N -> S (in dbSNP:rs17042344).			centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTTTGCCCAAGGCTTGTTTA	0.373													False	0	False	2:113514269	0	C	113514269	A	C	113514269	3	2	127	1	0	0	0	0	1	0	0	0	3466	69	3	4	1582	4	CKAP2L	2	113514269	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	11922240	113514269	129685104	19	32456											
IL1F10	84639	broad.mit.edu	37	chr2	113832336	113832336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctaacagaggcttggcccGcaccaaggtccccattttcc	8	16	0	1	rs142851873		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:113832336G>A	ENST00000393197.2	+	3	576	c.155G>A	c.(154-156)cGc>cAc	p.R52H	IL1F10_ENST00000341010.2_Missense_Mutation_p.R52H|IL1F10_ENST00000337569.3_Missense_Mutation_p.R52H	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	52						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						GGCTTGGCCCGCACCAAGGTC	0.587													False	0	True	2:113832336	0	A	113832336	G	A	113832336	3	1	127	1	0	0	0	0	1	0	0	0	7702	1087	38	1	165	1	IL1F10	2	113832336	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	318067	113832336	129367037	20	32457											
GLI2	2736	broad.mit.edu	37	chr2	121736099	121736099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagaagcccttcaaggcGcagtacatgctggtggtgca	14	10	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:121736099G>A	ENST00000452319.1	+	10	1518	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	GLI2_ENST00000314490.11_Silent_p.A158A|GLI2_ENST00000361492.4_Silent_p.A486A|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	486					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTTCAAGGCGCAGTACATGC	0.642													False	0	False	2:121736099	0	A	121736099	G	A	121736099	2	1	127	1	0	0	0	0	0	0	0	1	6483	1074	38	1		1	GLI2	2	121736099	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	7903763	121736099	121463274	21	32458											
LCT	3938	broad.mit.edu	37	chr2	136575286	136575286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacctgagcccggaggccGcaaagcagggcgacgtcaga	14	13	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:136575286G>A	ENST00000264162.2	-	6	1342	c.1332C>T	c.(1330-1332)tgC>tgT	p.C444C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	444	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCGGAGGCCGCAAAGCAGGG	0.647													False	0	False	2:136575286	0	A	136575286	G	A	136575286	2	1	127	1	0	0	0	0	0	0	0	1	8744	1079	38	1		1	LCT	2	136575286	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	14839187	136575286	106624087	22	32459											
SCN1A	6323	broad.mit.edu	37	chr2	166901827	166901827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttctgaggcagttgccGttgctgcctgctatattgaa	11	8	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:166901827G>A	ENST00000423058.2	-	10	1405	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T463M|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.T463M|SCN1A_ENST00000409050.1_Missense_Mutation_p.T463M	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	463						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGCAGTTGCCGTTGCTGCCTG	0.443													False	0	False	2:166901827	0	A	166901827	G	A	166901827	3	1	127	1	0	0	0	0	1	0	0	0	13995	1145	40	1	4709	1	SCN1A	2	166901827	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	30326541	166901827	76297546	23	32460											
PRKRA	8575	broad.mit.edu	37	chr2	179309229	179309229	+	Splice_Site	DEL	T	T	-													ggggtcaggaactgcaaagcTaaatattttttaaaagtgtt							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:179309229delT	ENST00000325748.4	-	4	518		c.e4-2		PRKRA_ENST00000432031.2_Splice_Site|PRKRA_ENST00000487082.1_Splice_Site|PRKRA_ENST00000438687.3_Splice_Site	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator						immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ACTGCAAAGCTAAATATTTTT	0.338													False	1	True	2:179309229	0	-	179309229	T	-	179309229	8	5	127	1	0	1	0	1	0	0	1	0	12600	1536	53	0	645	0	PRKRA	2	179309229	Splice_Site	DEL	T	TCGA-RB-A7B8-01A-12D-A33T-08	12407402	179309229	63890144	24	32461											
TTN	7273	broad.mit.edu	37	chr2	179418445	179418445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacccagtaacagcactgcCcccatcatagacaggcttac	6	15	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:179418445C>A	ENST00000589042.1	-	334	89511	c.89287G>T	c.(89287-89289)Ggc>Tgc	p.G29763C	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20890C|TTN_ENST00000591111.1_Missense_Mutation_p.G28122C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20823C|TTN_ENST00000460472.2_Missense_Mutation_p.G20698C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27195C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28122							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGCACTGCCCCCATCATAG	0.483													False	0	True	2:179418445	0	A	179418445	C	A	179418445	3	1	127	1	0	0	0	0	1	0	0	0	16819	623	22	3	18808	3	TTN	2	179418445	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	109216	179418445	63780928	25	32462											
ITGA4	3676	broad.mit.edu	37	chr2	182360534	182360534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctgtagtaattgttgaCgcttctttaagccaccctga	8	10	1	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:182360534C>T	ENST00000397033.2	+	14	1840	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	470					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAATTGTTGACGCTTCTTTAA	0.358													False	0	False	2:182360534	0	T	182360534	C	T	182360534	2	4	127	1	0	0	0	0	0	0	0	1	7928	535	19	1		1	ITGA4	2	182360534	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	2942089	182360534	60838839	26	32463											
COL6A3	1293	broad.mit.edu	37	chr2	238253001	238253001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcacagacctgcaaagCgttgatgagctgccggtctt	12	11	1	4			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:238253001C>T	ENST00000295550.4	-	36	8112	c.7660G>A	c.(7660-7662)Gct>Act	p.A2554T	COL6A3_ENST00000346358.4_Missense_Mutation_p.A2354T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2348T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1947T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2348T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2353T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2554	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTGCAAAGCGTTGATGAGC	0.557													False	0	False	2:238253001	0	T	238253001	C	T	238253001	3	4	127	1	0	0	0	0	1	0	0	0	3724	768	27	1	1909	1	COL6A3	2	238253001	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	55892467	238253001	4946372	27	32464											
D2HGDH	728294	broad.mit.edu	37	chr2	242695353	242695353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccctccctgtggagcgGctctacgacatcgtgactga	10	15	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:242695353G>A	ENST00000321264.4	+	9	1439	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R	D2HGDH_ENST00000403782.1_Silent_p.R276R|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	410					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTGTGGAGCGGCTCTACGACA	0.672													False	0	False	2:242695353	0	A	242695353	G	A	242695353	2	1	127	1	0	0	0	0	0	0	0	1	4238	1190	42	2		2	D2HGDH	2	242695353	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	4442352	242695353	504020	28	32465			1	22		2	2	14	G		6.592864e-05
D2HGDH	728294	broad.mit.edu	37	chr2	242695366	242695366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcggctctacgacatcGtgactgacctgcgcgcccgc	13	15	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:242695366G>A	ENST00000321264.4	+	9	1452	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	D2HGDH_ENST00000403782.1_Missense_Mutation_p.V281M|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	415					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTACGACATCGTGACTGACCT	0.687													False	0	True	2:242695366	0	A	242695366	G	A	242695366	3	1	127	1	0	0	0	0	1	0	0	0	4238	1145	40	1	1273	1	D2HGDH	2	242695366	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	13	242695366	504007	29	32466			1	22		2	2	14	G		6.592864e-05
SRGAP3	9901	broad.mit.edu	37	chr3	9100157	9100157	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagcccaaatcacagcaCttggggagaggcaacaacgg	13	10	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:9100157C>T	ENST00000383836.3	-	7	1229		c.e7-1		SRGAP3_ENST00000360413.3_Splice_Site|SRGAP3_ENST00000433332.3_Splice_Site	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AATCACAGCACTTGGGGAGAG	0.577			T	RAF1	pilocytic astrocytoma								False	0	False	3:9100157	0	T	9100157	C	T	9100157	5	4	127	1	0	0	0	0	0	0	1	0	15229	579	20	2	2597	2	SRGAP3	3	9100157	Splice_Site	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		9100157	188922273	30	32467											
CACNA1D	776	broad.mit.edu	37	chr3	53769492	53769492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagcgctgccctggccGcagaggaccccatccgcagc	13	17	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:53769492G>A	ENST00000288139.4	+	21	2891	c.2773G>A	c.(2773-2775)Gca>Aca	p.A925T	CACNA1D_ENST00000350061.5_Missense_Mutation_p.A905T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGCCCTGGCCGCAGAGGACCC	0.627													False	0	False	3:53769492	0	A	53769492	G	A	53769492	3	1	127	1	0	0	0	0	1	0	0	0	2561	1087	38	1	2963	1	CACNA1D	3	53769492	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	44669335	53769492	144252938	31	32468											
GTPBP8	29083	broad.mit.edu	37	chr3	112710121	112710121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggccactgaacggaaccGcatcgactacgtcagctccg	10	16	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:112710121G>A	ENST00000383677.3	+	1	290	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GTPBP8_ENST00000383678.2_Missense_Mutation_p.R92H	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	92					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GAACGGAACCGCATCGACTAC	0.647													False	0	False	3:112710121	0	A	112710121	G	A	112710121	3	1	127	1	0	0	0	0	1	0	0	0	6931	1087	38	1	277	1	GTPBP8	3	112710121	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	58940629	112710121	85312309	32	32469											
GSK3B	2932	broad.mit.edu	37	chr3	119595270	119595270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaactcaccttagtccaaGgatgtgccttaatttgaggg	9	9	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:119595270G>A	ENST00000264235.8	-	8	1881	c.899C>T	c.(898-900)cCt>cTt	p.P300L	GSK3B_ENST00000316626.5_Missense_Mutation_p.P300L|GSK3B_ENST00000473886.1_5'UTR	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	300	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CTTAGTCCAAGGATGTGCCTT	0.333													False	0	False	3:119595270	0	A	119595270	G	A	119595270	3	1	127	1	0	0	0	0	1	0	0	0	6871	1000	35	2	422	2	GSK3B	3	119595270	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	6885149	119595270	78427160	33	32470											
MYLK	4638	broad.mit.edu	37	chr3	123428605	123428605	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagctgcagagacagacctGacacttggacagtcatagtg	12	9	1	4			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:123428605G>A	ENST00000360772.3	-	15	2318	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	MYLK_ENST00000360304.3_Missense_Mutation_p.S647L|MYLK_ENST00000346322.5_Missense_Mutation_p.S578L|MYLK_ENST00000475616.1_Missense_Mutation_p.S647L|MYLK_ENST00000359169.1_Missense_Mutation_p.S647L			Q15746	MYLK_HUMAN	myosin light chain kinase	647	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGACAGACCTGACACTTGGAC	0.537													False	0	False	3:123428605	0	A	123428605	G	A	123428605	3	1	127	1	0	0	0	0	1	0	0	0	10123	1294	45	2	3888	2	MYLK	3	123428605	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3833335	123428605	74593825	34	32471											
EPHB1	2047	broad.mit.edu	37	chr3	134873067	134873067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgtcatggccacagccGgagcagcccaatggcatcat	10	14	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:134873067G>A	ENST00000398015.3	+	6	1741	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	EPHB1_ENST00000493838.1_Silent_p.P18P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	457	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCACAGCCGGAGCAGCCCA	0.557													False	0	False	3:134873067	0	A	134873067	G	A	134873067	2	1	127	1	0	0	0	0	0	0	0	1	5206	1103	39	1		1	EPHB1	3	134873067	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	11444462	134873067	63149363	35	32472											
ZBTB38	253461	broad.mit.edu	37	chr3	141163339	141163339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaatagcagtgagaatgcCgcctctgtgatcagctacag	11	9	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:141163339C>T	ENST00000514251.1	+	4	2388	c.2109C>T	c.(2107-2109)gcC>gcT	p.A703A	ZBTB38_ENST00000441582.2_Silent_p.A703A|ZBTB38_ENST00000321464.5_Silent_p.A704A			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	703					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTGAGAATGCCGCCTCTGTGA	0.498													False	0	False	3:141163339	0	T	141163339	C	T	141163339	2	4	127	1	0	0	0	0	0	0	0	1	17622	639	23	1		1	ZBTB38	3	141163339	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	6290272	141163339	56859091	36	32473											
SLC7A14	57709	broad.mit.edu	37	chr3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccacaaagcaccagaccGcaaaccggatccatgtgatg	8	14	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:170198095G>A	ENST00000231706.5	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498													False	0	False	3:170198095	0	A	170198095	G	A	170198095	3	1	127	1	0	0	0	0	1	0	0	0	14776	1087	38	1	347	1	SLC7A14	3	170198095	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	29034756	170198095	27824335	37	32474											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	9	5	2	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:178952072A>T	ENST00000263967.3	+	21	3284	c.3127A>T	c.(3127-3129)Atg>Ttg	p.M1043L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			False	0	True	3:178952072	0	T	178952072	A	T	178952072	3	4	127	1	0	0	0	0	1	0	0	0	11982	101	4	5	3205	5	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	8753977	178952072	19070358	38	32475											
ATP11B	23200	broad.mit.edu	37	chr3	182577061	182577085	+	Frame_Shift_Del	DEL	ATTGGCTGGGATCTTGATCTGTATC	ATTGGCTGGGATCTTGATCTGTATC	-													aatttcttggatcattttttAttggctgggatcttgatctg					rs148742494		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	ATTGGCTGGGATCTTGATCTGTATC	ATTGGCTGGGATCTTGATCTGTATC	-	-	ATTGGCTGGGATCTTGATCTGTATC	ATTGGCTGGGATCTTGATCTGTATC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:182577061_182577085delATTGGCTGGGATCTTGATCTGTATC	ENST00000323116.5	+	12	1374_1398	c.1114_1138delATTGGCTGGGATCTTGATCTGTATC	c.(1114-1140)attggctgggatcttgatctgtatcatfs	p.IGWDLDLYH372fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	372					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCATTTTTTATTGGCTGGGATCTTGATCTGTATCATGAAGAATC	0.333													False	1	False	3:182577061	0	-	182577085	ATTGGCTGGGATCTTGATCTGTATC	-	182577061	7	5	127	1	0	1	0	1	0	0	0	0	1124	449	16	0	1160	0	ATP11B	3	182577061	Frame_Shift_Del	DEL	ATTGGCTGGGATCTTGATCTGTATC	TCGA-RB-A7B8-01A-12D-A33T-08	3624989	182577061	15445369	39	32476											
OPA1	4976	broad.mit.edu	37	chr3	193366601	193366601	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaatgaactatttgaaaaAgctaaaaatgaaatccttga	6	4	0	5			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:193366601A>C	ENST00000361510.2	+	21	2187	c.1953A>C	c.(1951-1953)aaA>aaC	p.K651N	OPA1_ENST00000361150.2_Missense_Mutation_p.K597N|OPA1_ENST00000361715.2_Missense_Mutation_p.K615N|OPA1_ENST00000361828.2_Missense_Mutation_p.K614N|OPA1_ENST00000361908.3_Missense_Mutation_p.K633N|OPA1_ENST00000392438.3_Missense_Mutation_p.K596N	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	596					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TATTTGAAAAAGCTAAAAATG	0.308													False	0	True	3:193366601	0	C	193366601	A	C	193366601	3	2	127	1	0	0	0	0	1	0	0	0	10939	69	3	4	2035	4	OPA1	3	193366601	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	10789540	193366601	4655829	40	32477											
GRK4	2868	broad.mit.edu	37	chr4	3015458	3015458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggaaaaatgtatgcctGcaaaaagctacaaaaaaaaa	6	7	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:3015458G>A	ENST00000398052.4	+	8	987	c.644G>A	c.(643-645)tGc>tAc	p.C215Y	GRK4_ENST00000345167.6_Missense_Mutation_p.C183Y|GRK4_ENST00000504933.1_Missense_Mutation_p.C215Y|GRK4_ENST00000398051.4_Missense_Mutation_p.C183Y	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	215	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATGTATGCCTGCAAAAAGCTA	0.393													False	0	False	4:3015458	0	A	3015458	G	A	3015458	3	1	127	1	0	0	0	0	1	0	0	0	6838	1319	46	2	674	2	GRK4	4	3015458	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		3015458	188138818	41	32478											
GPR78	27201	broad.mit.edu	37	chr4	8582937	8582937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcggacaccgtcggcgccCggcgcatgccaagtcattgg	16	14	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:8582937C>T	ENST00000382487.4	+	1	645	c.228C>T	c.(226-228)ccC>ccT	p.P76P	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	76					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CGTCGGCGCCCGGCGCATGCC	0.687													False	0	True	4:8582937	0	T	8582937	C	T	8582937	2	4	127	1	0	0	0	0	0	0	0	1	6756	639	23	1		1	GPR78	4	8582937	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	5567479	8582937	182571339	42	32479											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	127	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-RB-A7B8-01A-12D-A33T-08	31851768	40434705	150719571	43	32480											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984154	41984154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccttcgttccacgtgtaCgtgctcagaaacctctacgt	7	14	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:41984154C>T	ENST00000333141.5	+	1	442	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	115										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCACGTGTACGTGCTCAGAA	0.562													False	0	False	4:41984154	0	T	41984154	C	T	41984154	2	4	127	1	0	0	0	0	0	0	0	1	4296	547	19	1		1	DCAF4L1	4	41984154	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	1549449	41984154	149170122	44	32481											
SORBS2	8470	broad.mit.edu	37	chr4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggatgctgttgtccgGcaagctcccccttttctttt	10	12	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:186544317G>A	ENST00000431808.1	-	14	2817	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522													False	0	False	4:186544317	0	A	186544317	G	A	186544317	3	1	127	1	0	0	0	0	1	0	0	0	15008	1203	42	2	1084	2	SORBS2	4	186544317	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	144560163	186544317	4609959	45	32482											
FBXL17	64839	broad.mit.edu	37	chr5	107216677	107216677	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaaggagagaggatatgAcatcaagctattaactatac	10	5	1	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:107216677A>G	ENST00000496714.1	-	7	1033	c.832T>C	c.(832-834)Tca>Cca	p.S278P	FBXL17_ENST00000542267.1_Intron|FBXL17_ENST00000359660.5_Intron			Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	0										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AGAGGATATGACATCAAGCTA	0.338													False	0	False	5:107216677	0	G	107216677	A	G	107216677	3	3	127	1	0	0	0	0	1	0	0	0	5753	290	10	4		4	FBXL17	5	107216677	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08		107216677	73698583	46	32483											
PCDHA12	0	broad.mit.edu	37	chr5	140257259	140257259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtgagccggtgcgcgccGggcaagcccacgctggtgtg	17	14	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:140257259G>A	ENST00000398631.2	+	1	2202	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCCGGGCAAGCCCA	0.682													False	0	True	5:140257259	0	A	140257259	G	A	140257259	2	1	127	1	0	0	0	0	0	0	0	1	11590	1103	39	1		1	PCDHA12	5	140257259	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	33040582	140257259	40658001	47	32484											
PCDHB11	0	broad.mit.edu	37	chr5	140581503	140581503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgcaggaggagcagggCggcctcggtgggaagctgct	20	9	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:140581503C>T	ENST00000354757.3	+	1	2156	c.2156C>T	c.(2155-2157)gCg>gTg	p.A719V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A354V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		719					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGGGCGGCCTCGGTG	0.652													False	0	True	5:140581503	0	T	140581503	C	T	140581503	3	4	127	1	0	0	0	0	1	0	0	0	11604	768	27	1	2158	1	PCDHB11	5	140581503	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	324244	140581503	40333757	48	32485											
SH3RF2	153769	broad.mit.edu	37	chr5	145435652	145435652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcagaaggtgatccacgGcaaagccgtcccttcaaatc	8	12	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:145435652G>A	ENST00000511217.1	+	7	1483	c.1431G>A	c.(1429-1431)cgG>cgA	p.R477R	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.R477R			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	477			R -> Q (in dbSNP:rs35165046).				ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGATCCACGGCAAAGCCGTC	0.562													False	0	False	5:145435652	0	A	145435652	G	A	145435652	2	1	127	1	0	0	0	0	0	0	0	1	14340	1190	42	2		2	SH3RF2	5	145435652	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	4854149	145435652	35479608	49	32486											
SLC22A23	63027	broad.mit.edu	37	chr6	3287312	3287312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagcagtggtggatccCgtaccccgtcagcctgtgga	14	12	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:3287312C>T	ENST00000436008.2	-	7	1789	c.1327G>A	c.(1327-1329)Ggg>Agg	p.G443R	SLC22A23_ENST00000406686.3_Missense_Mutation_p.G443R|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Missense_Mutation_p.G162R|SLC22A23_ENST00000490273.1_Missense_Mutation_p.G162R			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	443					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TGGTGGATCCCGTACCCCGTC	0.632													False	0	True	6:3287312	0	T	3287312	C	T	3287312	3	4	127	1	0	0	0	0	1	0	0	0	14533	652	23	1	749	1	SLC22A23	6	3287312	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		3287312	167827755	50	32487											
F13A1	2162	broad.mit.edu	37	chr6	6318801	6318801	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccccggggcaccacgccctGaagctccactgtgggcaggt	14	16	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:6318801G>A	ENST00000264870.3	-	2	362	c.97C>T	c.(97-99)Cag>Tag	p.Q33*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	33					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ACCACGCCCTGAAGCTCCACT	0.602													False	0	False	6:6318801	0	A	6318801	G	A	6318801	4	1	127	1	0	0	0	0	0	1	0	0	5373	1299	45	2	2157	2	F13A1	6	6318801	Nonsense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3031489	6318801	164796266	51	32488											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	127	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-RB-A7B8-01A-12D-A33T-08	1074649	7393450	163721617	52	32489											
DSP	1832	broad.mit.edu	37	chr6	7580347	7580347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctgaggacaatgcccgGcacaagcagtccctggagga	13	13	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:7580347G>A	ENST00000379802.3	+	23	4265	c.3924G>A	c.(3922-3924)cgG>cgA	p.R1308R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1308	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACAATGCCCGGCACAAGCAGT	0.532													False	0	False	6:7580347	0	A	7580347	G	A	7580347	2	1	127	1	0	0	0	0	0	0	0	1	4811	1190	42	2		2	DSP	6	7580347	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	186897	7580347	163534720	53	32490											
PHACTR1	221692	broad.mit.edu	37	chr6	13206143	13206143	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatgcccgtgggggggcCagacctctcactggtgtcct	14	13	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:13206143C>A	ENST00000379350.1	+	7	890	c.761C>A	c.(760-762)cCa>cAa	p.P254Q	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P254Q|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P109Q			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	254						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GTGGGGGGGCCAGACCTCTCA	0.602													False	0	False	6:13206143	0	A	13206143	C	A	13206143	3	1	127	1	0	0	0	0	1	0	0	0	11878	594	21	3	783	3	PHACTR1	6	13206143	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	5625796	13206143	157908924	54	32491											
GMPR	2766	broad.mit.edu	37	chr6	16279069	16279069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtacccccagctgagtgCcgtcattgagtgtgccgact	14	12	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:16279069C>T	ENST00000259727.4	+	6	716	c.602C>T	c.(601-603)gCc>gTc	p.A201V		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	201					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CAGCTGAGTGCCGTCATTGAG	0.592													False	0	False	6:16279069	0	T	16279069	C	T	16279069	3	4	127	1	0	0	0	0	1	0	0	0	6541	739	26	2	624	2	GMPR	6	16279069	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	3072926	16279069	154835998	55	32492											
GNL1	2794	broad.mit.edu	37	chr6	30514571	30514571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctctgtacacatcattcCgagccgccttggctgtcttg	9	14	3	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:30514571C>T	ENST00000376621.3	-	11	2454	c.1484G>A	c.(1483-1485)cGg>cAg	p.R495Q		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	495					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CACATCATTCCGAGCCGCCTT	0.522													False	0	False	6:30514571	0	T	30514571	C	T	30514571	3	4	127	1	0	0	0	0	1	0	0	0	6580	652	23	1	347	1	GNL1	6	30514571	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	14235502	30514571	140600496	56	32493											
MUC21	394263	broad.mit.edu	37	chr6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccctccagtggggccAgcacagccaccaactctgac	9	18	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:30954349A>G	ENST00000376296.3	+	2	638	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	133	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612													False	0	False	6:30954349	0	G	30954349	A	G	30954349	3	3	127	1	0	0	0	0	1	0	0	0	10044	188	7	4	403	4	MUC21	6	30954349	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	439778	30954349	140160718	57	32494											
ANKS1A	23294	broad.mit.edu	37	chr6	34985688	34985688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaactcaaactcagccGcagcttgtccaagtctgact	8	13	3	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:34985688G>A	ENST00000360359.3	+	11	2000	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	621						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACTCAGCCGCAGCTTGTCC	0.597													False	0	False	6:34985688	0	A	34985688	G	A	34985688	3	1	127	1	0	0	0	0	1	0	0	0	688	1087	38	1	1904	1	ANKS1A	6	34985688	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	4031339	34985688	136129379	58	32495											
RRAGD	58528	broad.mit.edu	37	chr6	90087442	90087442	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatcatatcacagcagagctCataggtttgcatatccaccg	7	11	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:90087442C>G	ENST00000369415.4	-	5	1126	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Missense_Mutation_p.E133Q	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	284					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CAGCAGAGCTCATAGGTTTGC	0.353													False	0	False	6:90087442	0	G	90087442	C	G	90087442	3	3	127	1	0	0	0	0	1	0	0	0	13754	835	29	5	364	5	RRAGD	6	90087442	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	55101754	90087442	81027625	59	32496											
ASCC3	10973	broad.mit.edu	37	chr6	101073182	101073182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgagacaaatatcaaaacAggtttggctggagaatggct	12	5	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:101073182A>G	ENST00000369162.2	-	30	5015	c.4671T>C	c.(4669-4671)ccT>ccC	p.P1557P		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1557	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATATCAAAACAGGTTTGGCTG	0.378													False	0	False	6:101073182	0	G	101073182	A	G	101073182	2	3	127	1	0	0	0	0	0	0	0	1	1037	175	7	4		4	ASCC3	6	101073182	Silent	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	10985740	101073182	70041885	60	32497											
STXBP5	0	broad.mit.edu	37	chr6	147680320	147680320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcatttctgtgaaacGtttactcgaaagacggactc	8	10	3	2	rs142207202		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:147680320G>A	ENST00000367481.3	+	21	2406	c.2298G>A	c.(2296-2298)acG>acA	p.T766T	STXBP5_ENST00000367480.3_Silent_p.T749T|STXBP5_ENST00000179882.6_Silent_p.T457T|STXBP5_ENST00000321680.6_Silent_p.T802T	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	802					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCTGTGAAACGTTTACTCGAA	0.488													False	0	True	6:147680320	0	A	147680320	G	A	147680320	2	1	127	1	0	0	0	0	0	0	0	1	15438	1132	40	1		1	STXBP5	6	147680320	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	46607138	147680320	23434747	61	32498											
AKAP12	9590	broad.mit.edu	37	chr6	151671678	151671678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagaaagctgatgaggccGgaaaagacaaagagacgggg	15	7	0	5			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:151671678G>A	ENST00000402676.2	+	4	2392	c.2152G>A	c.(2152-2154)Gga>Aga	p.G718R	AKAP12_ENST00000354675.6_Missense_Mutation_p.G620R|AKAP12_ENST00000253332.1_Missense_Mutation_p.G718R|AKAP12_ENST00000359755.5_Missense_Mutation_p.G613R	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	718					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGATGAGGCCGGAAAAGACAA	0.552													False	0	False	6:151671678	0	A	151671678	G	A	151671678	3	1	127	1	0	0	0	0	1	0	0	0	448	1117	39	1	2191	1	AKAP12	6	151671678	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3991358	151671678	19443389	62	32499											
PSMA2	5683	broad.mit.edu	37	chr7	42957275	42957275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttatcctctgtcatttgCccttcaaagctttcctattg	5	11	3	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:42957275C>T	ENST00000442788.1	-	8	618	c.603G>A	c.(601-603)ggG>ggA	p.G201G	PSMA2_ENST00000445517.1_Silent_p.G131G|PSMA2_ENST00000223321.4_Silent_p.G201G			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						CTGTCATTTGCCCTTCAAAGC	0.378													False	0	True	7:42957275	0	T	42957275	C	T	42957275	2	4	127	1	0	0	0	0	0	0	0	1	12743	726	26	2		2	PSMA2	7	42957275	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		42957275	116181388	63	32500											
VPS37D	155382	broad.mit.edu	37	chr7	73085559	73085559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcctgcccactggggcCgcccgggggccaccagcagt	15	17	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:73085559C>T	ENST00000324941.4	+	4	743	c.609C>T	c.(607-609)gcC>gcT	p.A203A	VPS37D_ENST00000451519.1_Silent_p.A118A	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN	vacuolar protein sorting 37 homolog D (S. cerevisiae)	203					cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCACTGGGGCCGCCCGGGGGC	0.766													False	0	False	7:73085559	0	T	73085559	C	T	73085559	2	4	127	1	0	0	0	0	0	0	0	1	17292	639	23	1		1	VPS37D	7	73085559	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	30128284	73085559	86053104	64	32501											
EPHB4	2050	broad.mit.edu	37	chr7	100402884	100402884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggcccgaagccactcgCccacagagccaaaagctgag	11	14	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100402884C>T	ENST00000358173.3	-	16	3206	c.2738G>A	c.(2737-2739)gGc>gAc	p.G913D	EPHB4_ENST00000360620.3_Intron	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	913	SAM.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AAGCCACTCGCCCACAGAGCC	0.587													False	0	True	7:100402884	0	T	100402884	C	T	100402884	3	4	127	1	0	0	0	0	1	0	0	0	5209	739	26	2	233	2	EPHB4	7	100402884	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	27317325	100402884	58735779	65	32502											
SERPINE1	5054	broad.mit.edu	37	chr7	100780300	100780300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtcatagtctcagcccGcatggcccccgaggagatca	11	14	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100780300G>A	ENST00000223095.4	+	8	1263	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	369		Reactive bond.			angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GTCTCAGCCCGCATGGCCCCC	0.582													False	0	True	7:100780300	0	A	100780300	G	A	100780300	3	1	127	1	0	0	0	0	1	0	0	0	14192	1087	38	1	1132	1	SERPINE1	7	100780300	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	377416	100780300	58358363	66	32503											
RNF133	168433	broad.mit.edu	37	chr7	122338189	122338189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtcattaggcttatagcGttcaaagcaaattacgcagc	8	8	2	0	rs137950690		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:122338189G>A	ENST00000340112.2	-	1	1021	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	262						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGCTTATAGCGTTCAAAGCAA	0.403													False	0	False	7:122338189	0	A	122338189	G	A	122338189	3	1	127	1	0	0	0	0	1	0	0	0	13518	1145	40	1	350	1	RNF133	7	122338189	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	21557889	122338189	36800474	67	32504											
TAS2R38	5726	broad.mit.edu	37	chr7	141673468	141673468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcataggacacagtgcGgatgcgagttagagtcaaca	12	8	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:141673468G>A	ENST00000547270.1	-	1	105	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	8					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GACACAGTGCGGATGCGAGTT	0.443													False	0	False	7:141673468	0	A	141673468	G	A	141673468	3	1	127	1	0	0	0	0	1	0	0	0	15657	1116	39	1	983	1	TAS2R38	7	141673468	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	19335279	141673468	17465195	68	32505											
EPHX2	2053	broad.mit.edu	37	chr8	27373915	27373915	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagtcatctgctcctcccGgtgggtgtgctgtcttgcag	14	11	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:27373915G>A	ENST00000521400.1	+	8	1340	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	EPHX2_ENST00000517536.1_Splice_Site_p.E121K|EPHX2_ENST00000521780.1_Splice_Site_p.E238K|EPHX2_ENST00000380476.3_Splice_Site_p.E251K|EPHX2_ENST00000518379.1_Splice_Site_p.E272K	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	304	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TGCTCCTCCCGGTGGGTGTGC	0.567											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	8:27373915	0	A	27373915	G	A	27373915	5	1	127	1	0	0	0	0	0	0	1	0	5212	1130	39	1	940	1	EPHX2	8	27373915	Splice_Site	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		27373915	118990107	69	32506											
RGS20	8601	broad.mit.edu	37	chr8	54791937	54791937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctccggcgaccccctccCgaggctccccggaggcgcct	11	21	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:54791937C>T	ENST00000297313.3	+	2	377	c.285C>T	c.(283-285)ccC>ccT	p.P95P	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	95					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GACCCCCTCCCGAGGCTCCCC	0.726													False	0	True	8:54791937	0	T	54791937	C	T	54791937	2	4	127	1	0	0	0	0	0	0	0	1	13382	639	23	1		1	RGS20	8	54791937	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	27418022	54791937	91572085	70	32507											
DNAJC5B	85479	broad.mit.edu	37	chr8	66988979	66988979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaatcaacaacgcccaCgcaatacttaccgacatttc	4	13	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:66988979C>T	ENST00000276570.5	+	4	491	c.204C>T	c.(202-204)caC>caT	p.H68H	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	68	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.H68H(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			ACAACGCCCACGCAATACTTA	0.428													False	0	False	8:66988979	0	T	66988979	C	T	66988979	2	4	127	1	0	0	0	0	0	0	0	1	4681	535	19	1		1	DNAJC5B	8	66988979	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	12197042	66988979	79375043	71	32508											
WWP1	11059	broad.mit.edu	37	chr8	87423766	87423766	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttattaattttcccttctcaGttaatggagaatcatcctca	4	9	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:87423766G>T	ENST00000517970.1	+	9	1031		c.e9-1		WWP1_ENST00000341922.2_Splice_Site|WWP1_ENST00000265428.4_Splice_Site|WWP1_ENST00000349423.2_Splice_Site	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1						central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TCCCTTCTCAGTTAATGGAGA	0.368													False	0	False	8:87423766	0	T	87423766	G	T	87423766	5	4	127	1	0	0	0	0	0	0	1	0	17499	1043	36	3	750	3	WWP1	8	87423766	Splice_Site	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	20434787	87423766	58940256	72	32509											
TRHR	7201	broad.mit.edu	37	chr8	110099973	110099973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcatggtcttggtggccGcaggcctccccaacataaca	9	14	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:110099973G>A	ENST00000518632.1	+	2	583	c.232G>A	c.(232-234)Gca>Aca	p.A78T	TRHR_ENST00000311762.2_Missense_Mutation_p.A78T			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	78						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTTGGTGGCCGCAGGCCTCCC	0.512													False	0	False	8:110099973	0	A	110099973	G	A	110099973	3	1	127	1	0	0	0	0	1	0	0	0	16563	1087	38	1	234	1	TRHR	8	110099973	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	22676207	110099973	36264049	73	32510											
HAS2	3037	broad.mit.edu	37	chr8	122626809	122626809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgttccaaattttacccCggtagaagagctggattact	9	8	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:122626809C>T	ENST00000303924.4	-	4	1736	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	400						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AATTTTACCCCGGTAGAAGAG	0.413													False	0	True	8:122626809	0	T	122626809	C	T	122626809	3	4	127	1	0	0	0	0	1	0	0	0	7009	652	23	1	463	1	HAS2	8	122626809	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	12526836	122626809	23737213	74	32511											
MELK	9833	broad.mit.edu	37	chr9	36665452	36665452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacaaagaaaatgtatatActcctaagtctgctgtaaag	7	6	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:36665452A>G	ENST00000543751.1	+	13	1331	c.1186A>G	c.(1186-1188)Act>Gct	p.T396A	MELK_ENST00000541717.1_Missense_Mutation_p.T387A|MELK_ENST00000536860.1_Missense_Mutation_p.T380A|MELK_ENST00000536329.1_Missense_Mutation_p.T357A|MELK_ENST00000538311.1_Missense_Mutation_p.T234A|MELK_ENST00000298048.2_Missense_Mutation_p.T428A|MELK_ENST00000536987.1_Missense_Mutation_p.T297A|MELK_ENST00000545008.1_Missense_Mutation_p.T357A	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	428						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AAATGTATATACTCCTAAGTC	0.368													False	0	True	9:36665452	0	G	36665452	A	G	36665452	3	3	127	1	0	0	0	0	1	0	0	0	9537	391	14	4	1332	4	MELK	9	36665452	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08		36665452	104547979	75	32512											
CBWD3	445571	broad.mit.edu	37	chr9	70871889	70871889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattagggagtgatatttaCcttgatggtaagttaaaaaa	10	2	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294													False	0	False	9:70871889	0	T	70871889	C	T	70871889	2	4	127	1	0	0	0	0	0	0	0	1	2734	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	34206437	70871889	70341542	76	32513											
ANXA1	301	broad.mit.edu	37	chr9	75775738	75775738	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggccttggaactgatgaagAtactctaattgagattttgg	12	5	1	4	rs111698970		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:75775738A>T	ENST00000376911.1	+	5	1286	c.404A>T	c.(403-405)gAt>gTt	p.D135V	ANXA1_ENST00000257497.6_Missense_Mutation_p.D135V			P04083	ANXA1_HUMAN	annexin A1	135					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	ACTGATGAAGATACTCTAATT	0.358													False	0	False	9:75775738	0	T	75775738	A	T	75775738	3	4	127	1	0	0	0	0	1	0	0	0	714	333	12	5	422	5	ANXA1	9	75775738	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	4903849	75775738	65437693	77	32514											
ABCA1	19	broad.mit.edu	37	chr9	107620844	107620844	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttggaacgaagtactcGctctgctgcagccagtttct	10	11	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:107620844G>A	ENST00000374736.3	-	7	1073	c.679C>T	c.(679-681)Cga>Tga	p.R227*	ABCA1_ENST00000423487.2_Nonsense_Mutation_p.R227*	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	227					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CGAAGTACTCGCTCTGCTGCA	0.468													False	0	False	9:107620844	0	A	107620844	G	A	107620844	4	1	127	1	0	0	0	0	0	1	0	0	28	1095	38	1	6282	1	ABCA1	9	107620844	Nonsense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	31845106	107620844	33592587	78	32515											
PALM2	114299	broad.mit.edu	37	chr9	112694261	112694261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgccaatcctctgttcacGaacagcagaaccatcacctg	6	16	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:112694261G>A	ENST00000448454.2	+	7	455	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	AKAP2_ENST00000510514.5_Missense_Mutation_p.R150Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R150Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.R150Q|PALM2_ENST00000483909.1_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.R150Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R150Q|PALM2_ENST00000374531.2_Intron					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CTCTGTTCACGAACAGCAGAA	0.537													False	0	False	9:112694261	0	A	112694261	G	A	112694261	3	1	127	1	0	0	0	0	1	0	0	0	11477	1058	37	1	481	1	PALM2	9	112694261	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	5073417	112694261	28519170	79	32516											
CTNNA3	29119	broad.mit.edu	37	chr10	67680252	67680252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatcacaactgggtgccGgggcccagcaggactctgga	13	14	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:67680252G>A	ENST00000433211.2	-	18	2698	c.2524C>T	c.(2524-2526)Cgg>Tgg	p.R842W	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R842W|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTGGGTGCCGGGGCCCAGCA	0.478													False	0	True	10:67680252	0	A	67680252	G	A	67680252	3	1	127	1	0	0	0	0	1	0	0	0	4039	1115	39	1	167	1	CTNNA3	10	67680252	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		67680252	67854495	80	32517											
EIF4EBP2	1979	broad.mit.edu	37	chr10	72179709	72179709	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagaaagtttctgttggatcGtcgcaattctcccatggctc	9	11	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:72179709G>C	ENST00000373218.4	+	2	208	c.185G>C	c.(184-186)cGt>cCt	p.R62P		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	62					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding			large_intestine(1)	1						CTGTTGGATCGTCGCAATTCT	0.433													False	0	False	10:72179709	0	C	72179709	G	C	72179709	3	2	127	1	0	0	0	0	1	0	0	0	5065	1145	40	5	191	5	EIF4EBP2	10	72179709	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	4499457	72179709	63355038	81	32518											
RRP12	23223	broad.mit.edu	37	chr10	99126559	99126559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcttcctcctccacgGcagcctggctcagggctcgg	10	18	3	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:99126559G>A	ENST00000370992.4	-	27	3266	c.3155C>T	c.(3154-3156)gCc>gTc	p.A1052V	RRP12_ENST00000536831.1_Missense_Mutation_p.A770V|RRP12_ENST00000315563.6_Missense_Mutation_p.A952V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.A991V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1052						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ctcctccACGGCAGCCTGGCT	0.642													False	0	False	10:99126559	0	A	99126559	G	A	99126559	3	1	127	1	0	0	0	0	1	0	0	0	13765	1203	42	2	770	2	RRP12	10	99126559	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	26946850	99126559	36408188	82	32519											
OR51A2	401667	broad.mit.edu	37	chr11	4976163	4976163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcaaagcggtggacaaCggccaggttgatgatgggca	16	10	0	2	rs75797492	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:4976163C>T	ENST00000380371.1	-	1	780	c.781G>A	c.(781-783)Gtt>Att	p.V261I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGTGGACAACGGCCAGGTTG	0.468													False	0	False	11:4976163	0	T	4976163	C	T	4976163	3	4	127	1	0	0	0	0	1	0	0	0	11154	536	19	1	162	1	OR51A2	11	4976163	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		4976163	130030353	83	32520											
ST5	6764	broad.mit.edu	37	chr11	8751522	8751522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggacttgcggtgaccacGcatgtccttcttgggtctcc	12	13	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:8751522G>A	ENST00000534127.1	-	6	1700	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R439C|ST5_ENST00000313726.6_Missense_Mutation_p.R439C	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	439	Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CGGTGACCACGCATGTCCTTC	0.572													False	0	False	11:8751522	0	A	8751522	G	A	8751522	3	1	127	1	0	0	0	0	1	0	0	0	15302	1087	38	1	2170	1	ST5	11	8751522	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3775359	8751522	126254994	84	32521											
NUP160	23279	broad.mit.edu	37	chr11	47861533	47861533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattccaggtactgctggaaTtaactgatagttgcaaggat	10	6	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:47861533T>C	ENST00000378460.2	-	4	656	c.610A>G	c.(610-612)Att>Gtt	p.I204V	NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Missense_Mutation_p.I90V|NUP160_ENST00000530326.1_Missense_Mutation_p.I90V|NUP160_ENST00000526870.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	204					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ACTGCTGGAATTAACTGATAG	0.458													False	0	False	11:47861533	0	C	47861533	T	C	47861533	3	2	127	1	0	0	0	0	1	0	0	0	10825	1493	52	4	3832	4	NUP160	11	47861533	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	39110011	47861533	87144983	85	32522											
OR8H2	390151	broad.mit.edu	37	chr11	55872750	55872750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcagttactcaactgtcGtcacacctaaaaccttagcg	5	14	3	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:55872750G>A	ENST00000313503.1	+	1	232	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCAACTGTCGTCACACCTAA	0.438										HNSCC(53;0.14)			False	0	False	11:55872750	0	A	55872750	G	A	55872750	3	1	127	1	0	0	0	0	1	0	0	0	11306	1145	40	1	234	1	OR8H2	11	55872750	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	8011217	55872750	79133766	86	32523											
OR5T3	390154	broad.mit.edu	37	chr11	56020051	56020051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaatccatttcatttatcGgatgtgcaacacagatgctt	6	8	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:56020051G>A	ENST00000303059.3	+	1	376	c.376G>A	c.(376-378)Gga>Aga	p.G126R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363													False	0	False	11:56020051	0	A	56020051	G	A	56020051	3	1	127	1	0	0	0	0	1	0	0	0	11251	1117	39	1	378	1	OR5T3	11	56020051	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	147301	56020051	78986465	87	32524											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077417	57077417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcccagtcctgctcatcgGcatcctggctgctgtaccta	8	16	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:57077417G>A	ENST00000532437.1	-	5	3079	c.2768C>T	c.(2767-2769)gCc>gTc	p.A923V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A923V|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	923	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.A923V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGCTCATCGGCATCCTGGCT	0.572													False	0	False	11:57077417	0	A	57077417	G	A	57077417	3	1	127	1	0	0	0	0	1	0	0	0	16402	1203	42	2	2445	2	TNKS1BP1	11	57077417	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1057366	57077417	77929099	88	32525											
RARRES3	5920	broad.mit.edu	37	chr11	63312120	63312120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggggctggctcctccaGtgtcttctcagtcctgagca	11	16	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:63312120G>A	ENST00000439013.2	+	3	199	c.146G>A	c.(145-147)aGt>aAt	p.S49N	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.S49N|RARRES3_ENST00000255688.3_Missense_Mutation_p.S49N			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	49					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GGCTCCTCCAGTGTCTTCTCA	0.567													False	0	False	11:63312120	0	A	63312120	G	A	63312120	3	1	127	1	0	0	0	0	1	0	0	0	13136	1029	36	2	156	2	RARRES3	11	63312120	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	6234703	63312120	71694396	89	32526											
NAA40	79829	broad.mit.edu	37	chr11	63721522	63721522	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcagagaagcgttgcaGtaaggagctgggtgtgggcc	16	7	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:63721522G>A	ENST00000377793.4	+	7	673		c.e7+1		NAA40_ENST00000456907.2_Splice_Site|NAA40_ENST00000539656.1_Splice_Site|NAA40_ENST00000542163.1_Splice_Site	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit								N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AAGCGTTGCAGTAAGGAGCTG	0.512													False	0	False	11:63721522	0	A	63721522	G	A	63721522	5	1	127	1	0	0	0	0	0	0	1	0	10192	1043	36	2	599	2	NAA40	11	63721522	Splice_Site	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	409402	63721522	71284994	90	32527											
CCDC88B	283234	broad.mit.edu	37	chr11	64120219	64120219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttgtccatcccaggcaCgagcagctgcaggcccagcg	11	18	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:64120219C>T	ENST00000356786.5	+	20	3404	c.3360C>T	c.(3358-3360)caC>caT	p.H1120H	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.H272H|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1120					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.H1120H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCCAGGCACGAGCAGCTGC	0.677													False	0	False	11:64120219	0	T	64120219	C	T	64120219	2	4	127	1	0	0	0	0	0	0	0	1	2885	535	19	1		1	CCDC88B	11	64120219	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	398697	64120219	70886297	91	32528											
SCYL1	57410	broad.mit.edu	37	chr11	65299135	65299135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccactgaccgggccatgcGcatccgcctcctgcagcagg	11	17	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:65299135G>A	ENST00000524944.1	+	8	1130	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	SCYL1_ENST00000533862.1_Missense_Mutation_p.R366H|SCYL1_ENST00000525364.1_Missense_Mutation_p.R366H|SCYL1_ENST00000270176.5_Missense_Mutation_p.R366H|SCYL1_ENST00000279270.6_Missense_Mutation_p.R366H|SCYL1_ENST00000527009.1_Missense_Mutation_p.R223H|SCYL1_ENST00000420247.2_Missense_Mutation_p.R366H			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	366					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CGGGCCATGCGCATCCGCCTC	0.617													False	0	False	11:65299135	0	A	65299135	G	A	65299135	3	1	127	1	0	0	0	0	1	0	0	0	14028	1087	38	1	1127	1	SCYL1	11	65299135	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1178916	65299135	69707381	92	32529											
MYEOV	26579	broad.mit.edu	37	chr11	69063478	69063478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaggaggtgcatgggcgGcatgggctctccatggaaat	16	9	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:69063478G>A	ENST00000535407.1	+	2	1030	c.387G>A	c.(385-387)cgG>cgA	p.R129R	MYEOV_ENST00000441339.2_Silent_p.R187R|MYEOV_ENST00000308946.3_Silent_p.R187R			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	187										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGCATGGGCGGCATGGGCTCT	0.627													False	0	False	11:69063478	0	A	69063478	G	A	69063478	2	1	127	1	0	0	0	0	0	0	0	1	10092	1190	42	2		2	MYEOV	11	69063478	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3764343	69063478	65943038	93	32530											
ZC3H12C	85463	broad.mit.edu	37	chr11	110036119	110036119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaagaaagccttattcccGccaggaaggcctgggaagct	11	11	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:110036119G>A	ENST00000453089.2	+	5	3097	c.2216G>A	c.(2215-2217)cGc>cAc	p.R739H	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R770H|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R771H			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	770							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CCTTATTCCCGCCAGGAAGGC	0.552													False	0	True	11:110036119	0	A	110036119	G	A	110036119	3	1	127	1	0	0	0	0	1	0	0	0	17646	1087	38	1	2331	1	ZC3H12C	11	110036119	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	40972641	110036119	24970397	94	32531											
SCN3B	55800	broad.mit.edu	37	chr11	123516310	123516310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacaaggaaatctttaccGccctcgggcctgtagaacca	8	13	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:123516310G>A	ENST00000392770.2	-	2	1006	c.204C>T	c.(202-204)ggC>ggT	p.G68G	SCN3B_ENST00000530277.1_Silent_p.G68G|SCN3B_ENST00000299333.3_Silent_p.G68G	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	68	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AATCTTTACCGCCCTCGGGCC	0.592													False	0	True	11:123516310	0	A	123516310	G	A	123516310	2	1	127	1	0	0	0	0	0	0	0	1	14000	1074	38	1		1	SCN3B	11	123516310	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	13480191	123516310	11490206	95	32532											
SLC6A13	6540	broad.mit.edu	37	chr12	346453	346453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagagatcttcaagacccgCcgcctggggagagaagggtt	14	10	3	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:346453C>T	ENST00000343164.4	-	6	619	c.567G>A	c.(565-567)cgG>cgA	p.R189R	SLC6A13_ENST00000445055.2_Silent_p.R97R	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	189					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TCAAGACCCGCCGCCTGGGGA	0.622													False	0	False	12:346453	0	T	346453	C	T	346453	2	4	127	1	0	0	0	0	0	0	0	1	14756	726	26	2		2	SLC6A13	12	346453	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		346453	133505442	96	32533											
ZNF384	0	broad.mit.edu	37	chr12	6782390	6782390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagccttaccgggtgtgCtgctgaaggtgggagagctg	18	8	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:6782390C>T	ENST00000396795.1	-	6	1400	c.903G>A	c.(901-903)caG>caA	p.Q301Q	ZNF384_ENST00000355772.4_Silent_p.Q246Q|ZNF384_ENST00000361959.3_Silent_p.Q301Q|ZNF384_ENST00000396799.2_Silent_p.Q301Q|ZNF384_ENST00000319770.3_Silent_p.Q285Q|ZNF384_ENST00000396801.3_Silent_p.Q301Q			Q8TF68	ZN384_HUMAN	zinc finger protein 384	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						ACCGGGTGTGCTGCTGAAGGT	0.542			T	"EWSR1, TAF15 "	ALL								False	0	False	12:6782390	0	T	6782390	C	T	6782390	2	4	127	1	0	0	0	0	0	0	0	1	17958	796	28	2		2	ZNF384	12	6782390	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	6435937	6782390	127069505	97	32534											
PTPN6	5777	broad.mit.edu	37	chr12	7060853	7060853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggtagcttcctggctcgGcccagtcgcaagaaccaggg	13	14	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:7060853G>A	ENST00000456013.1	+	2	332	c.90G>A	c.(88-90)cgG>cgA	p.R30R	PTPN6_ENST00000318974.9_Silent_p.R30R|PTPN6_ENST00000399448.1_Silent_p.R32R|PTPN6_ENST00000447931.2_Intron	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	30	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TCCTGGCTCGGCCCAGTCGCA	0.662													False	0	True	12:7060853	0	A	7060853	G	A	7060853	2	1	127	1	0	0	0	0	0	0	0	1	12871	1190	42	2		2	PTPN6	12	7060853	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	278463	7060853	126791042	98	32535											
CD163L1	283316	broad.mit.edu	37	chr12	7559219	7559219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagaaaagattcattaccGgagcaggagacaccatcaag	9	9	2	3	rs143012538		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:7559219G>A	ENST00000313599.3	-	5	1053	c.996C>T	c.(994-996)tcC>tcT	p.S332S	CD163L1_ENST00000416109.2_Silent_p.S342S|CD163L1_ENST00000396630.1_Silent_p.S332S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	332	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTCATTACCGGAGCAGGAGA	0.473													False	0	False	12:7559219	0	A	7559219	G	A	7559219	2	1	127	1	0	0	0	0	0	0	0	1	2991	1103	39	1		1	CD163L1	12	7559219	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	498366	7559219	126292676	99	32536											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	127	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	17839066	25398285	108453610	100	32537											
DENND5B	160518	broad.mit.edu	37	chr12	31577541	31577541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgatcaaggtgttctcCtccaggccggtgatgtttgc	13	11	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:31577541C>T	ENST00000389082.5	-	10	2583	c.2319G>A	c.(2317-2319)gaG>gaA	p.E773E	DENND5B_ENST00000536562.1_Silent_p.E808E|DENND5B_ENST00000306833.6_Silent_p.E808E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	773	RUN 1.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGGTGTTCTCCTCCAGGCCGG	0.517													False	0	False	12:31577541	0	T	31577541	C	T	31577541	2	4	127	1	0	0	0	0	0	0	0	1	4467	680	24	2		2	DENND5B	12	31577541	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	6179256	31577541	102274354	101	32538											
CNTN1	1272	broad.mit.edu	37	chr12	41422975	41422975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgttgtggaggttcgcgcGcacagtgatggaggagatgg	18	6	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:41422975G>A	ENST00000551295.2	+	23	3051	c.2934G>A	c.(2932-2934)gcG>gcA	p.A978A	CNTN1_ENST00000347616.1_Silent_p.A978A|CNTN1_ENST00000348761.2_Silent_p.A967A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	978	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGGTTCGCGCGCACAGTGATG	0.458													False	0	True	12:41422975	0	A	41422975	G	A	41422975	2	1	127	1	0	0	0	0	0	0	0	1	3663	1074	38	1		1	CNTN1	12	41422975	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	9845434	41422975	92428920	102	32539											
ADAMTS20	80070	broad.mit.edu	37	chr12	43860592	43860592	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattatcatcatgttgaacAccaagtctaaaaataaaaat	5	6	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:43860592A>G	ENST00000389420.3	-	9	1229	c.1230T>C	c.(1228-1230)ggT>ggC	p.G410G	ADAMTS20_ENST00000553158.1_Silent_p.G410G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	410	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATGTTGAACACCAAGTCTAA	0.294													False	0	False	12:43860592	0	G	43860592	A	G	43860592	2	3	127	1	0	0	0	0	0	0	0	1	266	146	6	4		4	ADAMTS20	12	43860592	Silent	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	2437617	43860592	89991303	103	32540											
KRT6A	3853	broad.mit.edu	37	chr12	52881586	52881586	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcctccaacagagctgaggCcacccccaatggctctgcca	9	18	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:52881586C>G	ENST00000330722.6	-	9	1681	c.1613G>C	c.(1612-1614)gGc>gCc	p.G538A		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	538	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCTGAGGCCACCCCCAAT	0.577													False	0	False	12:52881586	0	G	52881586	C	G	52881586	3	3	127	1	0	0	0	0	1	0	0	0	8530	739	26	5	85	5	KRT6A	12	52881586	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	9020994	52881586	80970309	104	32541											
COQ10A	93058	broad.mit.edu	37	chr12	56662938	56662938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctggtggtatccagccGtaagggtcatttgaaagccc	12	10	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:56662938G>A	ENST00000308197.5	+	3	638	c.377G>A	c.(376-378)cGt>cAt	p.R126H	RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000433805.2_Missense_Mutation_p.R94H|COQ10A_ENST00000546544.1_Missense_Mutation_p.R109H	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	126						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GTATCCAGCCGTAAGGGTCAT	0.512													False	0	False	12:56662938	0	A	56662938	G	A	56662938	3	1	127	1	0	0	0	0	1	0	0	0	3766	1145	40	1	429	1	COQ10A	12	56662938	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3781352	56662938	77188957	105	32542											
ATP2A2	488	broad.mit.edu	37	chr12	110778541	110778541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctccgtgaagctgtgCcggcaagcaggcatccgggt	14	14	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:110778541C>T	ENST00000395494.2	+	13	2321	c.1758C>T	c.(1756-1758)tgC>tgT	p.C586C	ATP2A2_ENST00000308664.6_Silent_p.C613C|ATP2A2_ENST00000539276.2_Silent_p.C613C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	613	Interacts with HAX1.				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGAAGCTGTGCCGGCAAGCAG	0.572													False	0	False	12:110778541	0	T	110778541	C	T	110778541	2	4	127	1	0	0	0	0	0	0	0	1	1141	747	26	2		2	ATP2A2	12	110778541	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	54115603	110778541	23073354	106	32543											
PGAM5	192111	broad.mit.edu	37	chr12	133294121	133294121	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgacgcgcgccatagagaCcaccgatatcatcagccggc	10	14	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:133294121C>A	ENST00000498926.2	+	3	525	c.467C>A	c.(466-468)aCc>aAc	p.T156N	PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.T156N|PGAM5_ENST00000543955.1_Missense_Mutation_p.T7N|PGAM5_ENST00000454808.2_Missense_Mutation_p.T7N	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	156						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GCCATAGAGACCACCGATATC	0.632													False	0	False	12:133294121	0	A	133294121	C	A	133294121	3	1	127	1	0	0	0	0	1	0	0	0	11845	507	18	3	477	3	PGAM5	12	133294121	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	22515580	133294121	557774	107	32544											
SAP18	10284	broad.mit.edu	37	chr13	21721345	21721345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttaaggagattggcagcaCcatgtctggcagaaagggga	15	6	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:21721345C>T	ENST00000382533.4	+	4	422	c.383C>T	c.(382-384)aCc>aTc	p.T128I	SAP18_ENST00000607003.1_Missense_Mutation_p.T109I	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	109					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		ATTGGCAGCACCATGTCTGGC	0.433													False	0	False	13:21721345	0	T	21721345	C	T	21721345	3	4	127	1	0	0	0	0	1	0	0	0	13911	507	18	2	397	2	SAP18	13	21721345	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		21721345	93448533	108	32545											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465897	24465897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccagcctcttattcccCggactcctggctcaccctgg	7	18	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:24465897C>T	ENST00000382137.3	-	3	601	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R178Q|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	178	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCTTATTCCCCGGACTCCTGG	0.587													False	0	True	13:24465897	0	T	24465897	C	T	24465897	3	4	127	1	0	0	0	0	1	0	0	0	1986	652	23	1	471	1	C1QTNF9B	13	24465897	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	2744552	24465897	90703981	109	32546											
CCNA1	8900	broad.mit.edu	37	chr13	37007204	37007204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgaagcaatgcactgcaGcaaccccaagagtggagttg	12	10	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:37007204G>A	ENST00000418263.1	+	2	490	c.140G>A	c.(139-141)aGc>aAc	p.S47N	CCNA1_ENST00000440264.1_Missense_Mutation_p.S4N|CCNA1_ENST00000255465.4_Missense_Mutation_p.S48N|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000449823.1_Missense_Mutation_p.S4N	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	48				EAMHC -> SS (in Ref. 2; AAV38384).	cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ATGCACTGCAGCAACCCCAAG	0.602													False	0	False	13:37007204	0	A	37007204	G	A	37007204	3	1	127	1	0	0	0	0	1	0	0	0	2932	971	34	2	149	2	CCNA1	13	37007204	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	12541307	37007204	78162674	110	32547											
POSTN	10631	broad.mit.edu	37	chr13	38145544	38145544	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttattgtttcaccttctttaAtcagtctgaattcaggttca	5	8	6	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:38145544A>T	ENST00000379747.4	-	18	2258	c.2141T>A	c.(2140-2142)aTt>aAt	p.I714N	POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379743.4_Missense_Mutation_p.I687N|POSTN_ENST00000541179.1_Missense_Mutation_p.I687N|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000379749.4_Missense_Mutation_p.I714N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	714					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACCTTCTTTAATCAGTCTGAA	0.383													False	0	False	13:38145544	0	T	38145544	A	T	38145544	3	4	127	1	0	0	0	0	1	0	0	0	12328	101	4	5	393	5	POSTN	13	38145544	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	1138340	38145544	77024334	111	32548											
PCDH17	27253	broad.mit.edu	37	chr13	58208306	58208306	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctgcgctcctttaacttCgagcagaccaaggcttttga	9	13	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:58208306C>T	ENST00000377918.3	+	1	1652	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	542	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTTTAACTTCGAGCAGACCA	0.582													False	0	False	13:58208306	0	T	58208306	C	T	58208306	2	4	127	1	0	0	0	0	0	0	0	1	11580	883	31	1		1	PCDH17	13	58208306	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	20062762	58208306	56961572	112	32549											
SGPP1	81537	broad.mit.edu	37	chr14	64152974	64152974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtatattgaagattttgCaggctaaaggaatggtgatc	12	4	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:64152974C>T	ENST00000247225.6	-	3	1269	c.1175G>A	c.(1174-1176)tGc>tAc	p.C392Y		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	392						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GAAGATTTTGCAGGCTAAAGG	0.378													False	0	False	14:64152974	0	T	64152974	C	T	64152974	3	4	127	1	0	0	0	0	1	0	0	0	14300	710	25	2	154	2	SGPP1	14	64152974	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		64152974	43196566	113	32550											
SYNE2	23224	broad.mit.edu	37	chr14	64685207	64685207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaagacgggggactggCcggtatcacagagcagcagt	17	9	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:64685207C>T	ENST00000357395.3	+	109	19864	c.8720C>T	c.(8719-8721)gCc>gTc	p.A2907V	SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V|SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.A6522V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6522					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGGGACTGGCCGGTATCACA	0.527													False	0	False	14:64685207	0	T	64685207	C	T	64685207	3	4	127	1	0	0	0	0	1	0	0	0	15528	739	26	2	20064	2	SYNE2	14	64685207	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	532233	64685207	42664333	114	32551											
CCDC88C	440193	broad.mit.edu	37	chr14	91760540	91760540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcttctgctcctcatgGtactgctccttgttctccat	6	14	3	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:91760540G>A	ENST00000389857.6	-	23	4175	c.4089C>T	c.(4087-4089)taC>taT	p.Y1363Y		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1363					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTCCTCATGGTACTGCTCCT	0.542													False	0	False	14:91760540	0	A	91760540	G	A	91760540	2	1	127	1	0	0	0	0	0	0	0	1	2886	1256	44	2		2	CCDC88C	14	91760540	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	27075333	91760540	15589000	115	32552											
IGDCC3	9543	broad.mit.edu	37	chr15	65622967	65622967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcttgcttgctgggcgGtaaaacagcttgaagccgcc	14	10	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:65622967G>A	ENST00000327987.4	-	10	1925	c.1674C>T	c.(1672-1674)taC>taT	p.Y558Y		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	558	Fibronectin type-III 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGCTGGGCGGTAAAACAGCT	0.652													False	0	False	15:65622967	0	A	65622967	G	A	65622967	2	1	127	1	0	0	0	0	0	0	0	1	7618	1256	44	2		2	IGDCC3	15	65622967	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		65622967	36908425	116	32553											
SIN3A	25942	broad.mit.edu	37	chr15	75703966	75703966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctgcaaggatggggccGttcccaacgagattgtcact	12	10	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:75703966G>A	ENST00000394947.3	-	6	1189	c.875C>T	c.(874-876)aCg>aTg	p.T292M	SIN3A_ENST00000394949.4_Missense_Mutation_p.T292M|SIN3A_ENST00000360439.4_Missense_Mutation_p.T292M	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	292	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGATGGGGCCGTTCCCAACGA	0.517													False	0	False	15:75703966	0	A	75703966	G	A	75703966	3	1	127	1	0	0	0	0	1	0	0	0	14406	1145	40	1	3010	1	SIN3A	15	75703966	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	10080999	75703966	26827426	117	32554											
NR2F2	7026	broad.mit.edu	37	chr15	96877325	96877325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgcagaggggcaggatgCcgccgacccagccgacccac	15	16	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:96877325C>T	ENST00000394166.3	+	2	1852	c.463C>T	c.(463-465)Ccg>Tcg	p.P155S	NR2F2_ENST00000394171.2_Missense_Mutation_p.P2S|NR2F2_ENST00000421109.2_Missense_Mutation_p.P22S|NR2F2_ENST00000453270.2_Missense_Mutation_p.P2S	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	155	Interaction with ZFPM2 (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGGCAGGATGCCGCCGACCCA	0.662													False	0	False	15:96877325	0	T	96877325	C	T	96877325	3	4	127	1	0	0	0	0	1	0	0	0	10696	739	26	2	516	2	NR2F2	15	96877325	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	21173359	96877325	5654067	118	32555											
LRRC28	123355	broad.mit.edu	37	chr15	99874263	99874263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtctatggtatgtgccgcGccatctctgccagctgccca	10	15	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:99874263G>A	ENST00000301981.3	+	6	761	c.521G>A	c.(520-522)cGc>cAc	p.R174H	LRRC28_ENST00000447360.2_Missense_Mutation_p.R174H|LRRC28_ENST00000442993.2_Silent_p.A142A|LRRC28_ENST00000422500.2_Intron|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000331450.5_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	174										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TATGTGCCGCGCCATCTCTGC	0.488													False	0	False	15:99874263	0	A	99874263	G	A	99874263	3	1	127	1	0	0	0	0	1	0	0	0	9044	1087	38	1	539	1	LRRC28	15	99874263	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	2996938	99874263	2657129	119	32556											
NPRL3	8131	broad.mit.edu	37	chr16	148217	148217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtggtcttgatcacccGcactagggcaggggagcagt	15	9	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:148217G>A	ENST00000399953.3	-	8	1252	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.R105W	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	284							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						TTGATCACCCGCACTAGGGCA	0.572													False	0	True	16:148217	0	A	148217	G	A	148217	3	1	127	1	0	0	0	0	1	0	0	0	10666	1086	38	1	882	1	NPRL3	16	148217	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		148217	90206536	120	32557											
SMG1	23049	broad.mit.edu	37	chr16	18841673	18841673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggttggattaattcaccGtactgagcatgtagtagtct	10	8	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:18841673G>A	ENST00000446231.2	-	52	9223	c.8811C>T	c.(8809-8811)taC>taT	p.Y2937Y	SMG1_ENST00000389467.3_Silent_p.Y2937Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2937					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTAATTCACCGTACTGAGCAT	0.413													False	0	False	16:18841673	0	A	18841673	G	A	18841673	2	1	127	1	0	0	0	0	0	0	0	1	14875	1140	40	1		1	SMG1	16	18841673	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	18693456	18841673	71513080	121	32558											
SMG1	23049	broad.mit.edu	37	chr16	18880528	18880528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggcccactgccaaaggaCagcatctgtcttcaggagat	10	11	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:18880528C>T	ENST00000446231.2	-	20	3143	c.2731G>A	c.(2731-2733)Gtc>Atc	p.V911I	SMG1_ENST00000389467.3_Missense_Mutation_p.V911I			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	911	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGCCAAAGGACAGCATCTGTC	0.488													False	0	False	16:18880528	0	T	18880528	C	T	18880528	3	4	127	1	0	0	0	0	1	0	0	0	14875	478	17	2	8430	2	SMG1	16	18880528	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	38855	18880528	71474225	122	32559											
SEPHS2	22928	broad.mit.edu	37	chr16	30456444	30456444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtccctccttcctcagccGcatcccgaaagcctttgacc	6	20	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:30456444G>A	ENST00000478753.2	-	1	1058	c.605C>T	c.(604-606)gCg>gTg	p.A202V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.A145V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A202V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	202					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						TTCCTCAGCCGCATCCCGAAA	0.527													False	0	False	16:30456444	0	A	30456444	G	A	30456444	3	1	127	1	0	0	0	0	1	0	0	0	14136	1087	38	1	745	1	SEPHS2	16	30456444	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	11575916	30456444	59898309	123	32560											
C16orf93	90835	broad.mit.edu	37	chr16	30768893	30768893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcctcgctggccttgagCcgctcctccaccagcccctg	8	20	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:30768893C>T	ENST00000543610.1	-	9	1861	c.900G>A	c.(898-900)cgG>cgA	p.R300R	PHKG2_ENST00000424889.3_Intron|C16orf93_ENST00000541260.1_Silent_p.R365R|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	300										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TGGCCTTGAGCCGCTCCTCCA	0.607													False	0	False	16:30768893	0	T	30768893	C	T	30768893	2	4	127	1	0	0	0	0	0	0	0	1	1856	726	26	2		2	C16orf93	16	30768893	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	312449	30768893	59585860	124	32561											
ZNF646	9726	broad.mit.edu	37	chr16	31089682	31089682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcatcggaagcgggctggCggtgccagcggtgggagaga	21	9	0	1	rs145751871		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:31089682C>T	ENST00000394979.2	+	1	2460	c.2037C>T	c.(2035-2037)ggC>ggT	p.G679G	ZNF646_ENST00000300850.5_Silent_p.G679G			O15015	ZN646_HUMAN	zinc finger protein 646	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGCGGGCTGGCGGTGCCAGCG	0.652													False	0	False	16:31089682	0	T	31089682	C	T	31089682	2	4	127	1	0	0	0	0	0	0	0	1	18145	755	27	1		1	ZNF646	16	31089682	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	320789	31089682	59265071	125	32562											
PRPF8	10594	broad.mit.edu	37	chr17	1585571	1585571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttgaggactgcgtgggGcatgtactttagggcactgg	17	6	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:1585571G>A	ENST00000572621.1	-	3	551	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	PRPF8_ENST00000304992.6_Missense_Mutation_p.P96S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	96						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACTGCGTGGGGCATGTACTTT	0.507													False	0	True	17:1585571	0	A	1585571	G	A	1585571	3	1	127	1	0	0	0	0	1	0	0	0	12651	1203	42	2	6881	2	PRPF8	17	1585571	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		1585571	79609639	126	32563											
ALOX15B	247	broad.mit.edu	37	chr17	7948584	7948584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttcttggtggatcacgGcatcctctctggcatccaga	10	13	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:7948584G>A	ENST00000380183.4	+	7	1017	c.878G>A	c.(877-879)gGc>gAc	p.G293D	ALOX15B_ENST00000573359.1_Missense_Mutation_p.G293D|ALOX15B_ENST00000572022.1_Missense_Mutation_p.G293D|ALOX15B_ENST00000380173.2_Missense_Mutation_p.G293D	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	293	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GTGGATCACGGCATCCTCTCT	0.562													False	0	False	17:7948584	0	A	7948584	G	A	7948584	3	1	127	1	0	0	0	0	1	0	0	0	539	1203	42	2	904	2	ALOX15B	17	7948584	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	6363013	7948584	73246626	127	32564											
FAM83G	644815	broad.mit.edu	37	chr17	18874844	18874844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatcggtcatggggcggGcattttgggccagtcttggg	17	9	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:18874844G>A	ENST00000388995.6	-	6	2523	c.2300C>T	c.(2299-2301)gCc>gTc	p.A767V	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A767V|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A767V|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	767										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CATGGGGCGGGCATTTTGGGC	0.652													False	0	True	17:18874844	0	A	18874844	G	A	18874844	3	1	127	1	0	0	0	0	1	0	0	0	5679	1203	42	2	175	2	FAM83G	17	18874844	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	10926260	18874844	62320366	128	32565											
HAP1	9001	broad.mit.edu	37	chr17	39881124	39881124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtgaagggcccaagccGctggcctccagggctgatgt	16	11	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:39881124G>A	ENST00000393939.2	-	10	1623	c.1614C>T	c.(1612-1614)agC>agT	p.S538S	JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Silent_p.S615S|HAP1_ENST00000347901.4_Silent_p.S563S|HAP1_ENST00000341193.5_Silent_p.S546S			P54257	HAP1_HUMAN	huntingtin-associated protein 1	615	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GGCCCAAGCCGCTGGCCTCCA	0.607													False	0	False	17:39881124	0	A	39881124	G	A	39881124	2	1	127	1	0	0	0	0	0	0	0	1	7000	1078	38	1		1	HAP1	17	39881124	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	21006280	39881124	41314086	129	32566											
EZH1	2145	broad.mit.edu	37	chr17	40865346	40865346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactatgtggtgccttctcCggcgacgaccagagcacttg	12	12	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:40865346C>T	ENST00000428826.2	-	11	1206	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	EZH1_ENST00000435174.1_Missense_Mutation_p.R223Q|EZH1_ENST00000585893.1_Missense_Mutation_p.R322Q|EZH1_ENST00000415827.2_Missense_Mutation_p.R353Q|EZH1_ENST00000590078.1_Missense_Mutation_p.R292Q|EZH1_ENST00000592743.1_Missense_Mutation_p.R362Q			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	362					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GTGCCTTCTCCGGCGACGACC	0.552													False	0	False	17:40865346	0	T	40865346	C	T	40865346	3	4	127	1	0	0	0	0	1	0	0	0	5366	652	23	1	1202	1	EZH1	17	40865346	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	984222	40865346	40329864	130	32567											
NFE2L1	4779	broad.mit.edu	37	chr17	46136986	46136986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcaggagaggaagccaAaggaccggagaaagtgagcc	18	8	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:46136986A>G	ENST00000362042.3	+	6	2918	c.2302A>G	c.(2302-2304)Aag>Gag	p.K768E	NFE2L1_ENST00000585291.1_Missense_Mutation_p.K738E|NFE2L1_ENST00000583378.1_Missense_Mutation_p.K569E|NFE2L1_ENST00000361665.3_Missense_Mutation_p.K757E|NFE2L1_ENST00000536222.1_Missense_Mutation_p.K612E|NFE2L1_ENST00000357480.5_Missense_Mutation_p.K738E|NFE2L1_ENST00000582155.1_Missense_Mutation_p.K580E	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	768					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGGAAGCCAAAGGACCGGAG	0.647													False	0	True	17:46136986	0	G	46136986	A	G	46136986	3	3	127	1	0	0	0	0	1	0	0	0	10435	15	1	4	2320	4	NFE2L1	17	46136986	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	5271640	46136986	35058224	131	32568											
TRIM37	4591	broad.mit.edu	37	chr17	57093004	57093004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctccttttctcaaccGcaggcaagccactgaaaact	5	14	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:57093004G>A	ENST00000376149.3	-	21	2986	c.2177C>T	c.(2176-2178)gCg>gTg	p.A726V	TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V|TRIM37_ENST00000262294.7_Missense_Mutation_p.A848V|TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V			O94972	TRI37_HUMAN	tripartite motif containing 37	848						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	p.A848V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTCTCAACCGCAGGCAAGCC	0.398									Mulibrey Nanism				False	0	False	17:57093004	0	A	57093004	G	A	57093004	3	1	127	1	0	0	0	0	1	0	0	0	16594	1087	38	1	375	1	TRIM37	17	57093004	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	10956018	57093004	24102206	132	32569											
FN3KRP	79672	broad.mit.edu	37	chr17	80684911	80684911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttactccgcctaccacgGcaaaatccccaaggccccag	6	18	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:80684911G>A	ENST00000269373.6	+	6	867	c.794G>A	c.(793-795)gGc>gAc	p.G265D	FN3KRP_ENST00000535965.1_Missense_Mutation_p.G215D	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	265				G -> C (in Ref. 4; AAH01458).			kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCCTACCACGGCAAAATCCCC	0.502													False	0	False	17:80684911	0	A	80684911	G	A	80684911	3	1	127	1	0	0	0	0	1	0	0	0	6004	1203	42	2	816	2	FN3KRP	17	80684911	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	23591907	80684911	510299	133	32570											
CDH2	1000	broad.mit.edu	37	chr18	25572669	25572669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgggtcggtctggatggCgaaccgtccagtaggatctc	15	9	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr18:25572669C>T	ENST00000269141.3	-	9	1717	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	CDH2_ENST00000399380.3_Missense_Mutation_p.A401T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	432	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTCTGGATGGCGAACCGTCCA	0.532													False	0	False	18:25572669	0	T	25572669	C	T	25572669	3	4	127	1	0	0	0	0	1	0	0	0	3128	768	27	1	1458	1	CDH2	18	25572669	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		25572669	52504579	134	32571											
HMHA1	23526	broad.mit.edu	37	chr19	1073163	1073163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagacctccttgaggcccGccgcccgcgggcccacgagt	13	18	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:1073163G>A	ENST00000313093.2	+	3	668	c.437G>A	c.(436-438)cGc>cAc	p.R146H	HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000543365.1_Missense_Mutation_p.R29H|HMHA1_ENST00000590214.1_Missense_Mutation_p.R173H|HMHA1_ENST00000539243.2_Missense_Mutation_p.R162H|HMHA1_ENST00000592335.1_Missense_Mutation_p.A27T|HMHA1_ENST00000586866.1_Missense_Mutation_p.R150H	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	146					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGAGGCCCGCCGCCCGCGG	0.642													False	0	True	19:1073163	0	A	1073163	G	A	1073163	3	1	127	1	0	0	0	0	1	0	0	0	7287	1087	38	1	447	1	HMHA1	19	1073163	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		1073163	58055820	135	32572											
DAZAP1	26528	broad.mit.edu	37	chr19	1425952	1425952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattttcacgacatcatggGcaaaaaagtgtgtagttgta	10	6	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:1425952G>A	ENST00000336761.6	+	7	744	c.539G>A	c.(538-540)gGc>gAc	p.G180D	DAZAP1_ENST00000586579.1_Intron|DAZAP1_ENST00000233078.4_Missense_Mutation_p.G180D	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	180	RRM 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACATCATGGGCAAAAAAGTG	0.413													False	0	True	19:1425952	0	A	1425952	G	A	1425952	3	1	127	1	0	0	0	0	1	0	0	0	4269	1203	42	2	565	2	DAZAP1	19	1425952	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	352789	1425952	57703031	136	32573											
SARS2	54938	broad.mit.edu	37	chr19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgctgtagccctcgcgcGcatactcgtacaggaggttc	13	13	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:39421234	0	A	39421234	G	A	39421234	3	1	127	1	0	0	0	0	1	0	0	0	13925	1087	38	1	1558	1	SARS2	19	39421234	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	37995282	39421234	19707749	137	32574											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733491	56733491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcccacaggtgtggctTctccttgaggctcttcttgg	12	11	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:56733491T>C	ENST00000587340.1	-	7	1639	c.944A>G	c.(943-945)gAa>gGa	p.E315G	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E198G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E315G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E314G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E169G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	315					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGTGTGGCTTCTCCTTGAGG	0.557													False	0	False	19:56733491	0	C	56733491	T	C	56733491	3	2	127	1	0	0	0	0	1	0	0	0	18320	1783	62	4	550	4	ZSCAN5A	19	56733491	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	17312257	56733491	2395492	138	32575			2	23		2	2	13	T		6.085736e-05
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733503	56733503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcttctccttgaggcTcttcttgggaaatggaggag	15	7	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:56733503T>C	ENST00000587340.1	-	7	1627	c.932A>G	c.(931-933)gAg>gGg	p.E311G	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E194G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E311G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E310G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E165G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	311					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCTTGAGGCTCTTCTTGGGA	0.547													False	0	False	19:56733503	0	C	56733503	T	C	56733503	3	2	127	1	0	0	0	0	1	0	0	0	18320	1551	54	4	562	4	ZSCAN5A	19	56733503	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	12	56733503	2395480	139	32576			2	23		2	2	13	T		6.085736e-05
ZNF749	388567	broad.mit.edu	37	chr19	57956103	57956103	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcccacctagttcagcaTgagaaaatccacactgatgc	7	12	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:57956103T>C	ENST00000334181.4	+	3	1837	c.1587T>C	c.(1585-1587)caT>caC	p.H529H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCATGAGAAAATCC	0.453													False	0	False	19:57956103	0	C	57956103	T	C	57956103	2	2	127	1	0	0	0	0	0	0	0	1	18213	1461	51	4		4	ZNF749	19	57956103	Silent	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	1222600	57956103	1172880	140	32577											
ZNF606	80095	broad.mit.edu	37	chr19	58490664	58490664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccagctgaaggcttttcCacatttattacattcatagg	6	9	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:58490664C>T	ENST00000341164.4	-	7	2004	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	ZNF606_ENST00000536132.1_Missense_Mutation_p.G372R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAGGCTTTTCCACATTTATTA	0.358													False	0	False	19:58490664	0	T	58490664	C	T	58490664	3	4	127	1	0	0	0	0	1	0	0	0	18115	603	21	2	998	2	ZNF606	19	58490664	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	534561	58490664	638319	141	32578											
JAG1	182	broad.mit.edu	37	chr20	10621878	10621878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaattcactgcaaatgtgCtccgtagtaagaccctaaaa	6	11	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:10621878C>T	ENST00000254958.5	-	24	3446	c.2931G>A	c.(2929-2931)gaG>gaA	p.E977E	JAG1_ENST00000423891.2_Silent_p.E818E	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	977					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGCAAATGTGCTCCGTAGTAA	0.408									Alagille Syndrome				False	0	False	20:10621878	0	T	10621878	C	T	10621878	2	4	127	1	0	0	0	0	0	0	0	1	7984	796	28	2		2	JAG1	20	10621878	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		10621878	52403642	142	32579											
RBM12	10137	broad.mit.edu	37	chr20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaggtattcctgcactggGcattcccgcaccaggcagtc	10	14	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557													False	0	True	20:34241168	0	A	34241168	G	A	34241168	3	1	127	1	0	0	0	0	1	0	0	0	13192	1203	42	2	725	2	RBM12	20	34241168	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	23619290	34241168	28784352	143	32580											
EPB41L1	2036	broad.mit.edu	37	chr20	34773105	34773105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccatgctcctttgtcacGcatgccctactgggctccta	8	16	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:34773105G>A	ENST00000338074.2	+	7	794	c.633G>A	c.(631-633)acG>acA	p.T211T	EPB41L1_ENST00000202028.5_Silent_p.T149T|EPB41L1_ENST00000373941.1_Silent_p.T211T|EPB41L1_ENST00000373950.2_Silent_p.T114T|EPB41L1_ENST00000373946.3_Silent_p.T180T|EPB41L1_ENST00000441639.1_Silent_p.T149T	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	211	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCTTTGTCACGCATGCCCTAC	0.612													False	0	False	20:34773105	0	A	34773105	G	A	34773105	2	1	127	1	0	0	0	0	0	0	0	1	5184	1074	38	1		1	EPB41L1	20	34773105	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	531937	34773105	28252415	144	32581											
TPTE	7179	broad.mit.edu	37	chr21	10970018	10970018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattgctcacctttctttcGcaggtgcctcctcggttgct	8	13	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:10970018G>A	ENST00000298232.7	-	6	477	c.110C>T	c.(109-111)gCg>gTg	p.A37V	TPTE_ENST00000361285.4_Missense_Mutation_p.A37V|TPTE_ENST00000342420.5_Missense_Mutation_p.A37V|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	37					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTTTCTTTCGCAGGTGCCTC	0.413													False	0	True	21:10970018	0	A	10970018	G	A	10970018	3	1	127	1	0	0	0	0	1	0	0	0	16513	1087	38	1	1621	1	TPTE	21	10970018	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		10970018	37159877	145	32582											
ERG	2078	broad.mit.edu	37	chr21	39755612	39755612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaacttgtaggcgtagcGcttcccatggaccttggtca	12	11	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:39755612G>A	ENST00000442448.1	-	11	1373	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C	ERG_ENST00000398905.1_Missense_Mutation_p.R361C|ERG_ENST00000398897.1_Missense_Mutation_p.R269C|ERG_ENST00000398911.1_Missense_Mutation_p.R368C|ERG_ENST00000288319.7_Missense_Mutation_p.R385C|ERG_ENST00000398919.2_Missense_Mutation_p.R392C|ERG_ENST00000453032.2_Missense_Mutation_p.R293C|ERG_ENST00000398910.1_Missense_Mutation_p.R369C|ERG_ENST00000417133.2_Missense_Mutation_p.R392C|ERG_ENST00000398907.1_Missense_Mutation_p.R362C	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	392					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TAGGCGTAGCGCTTCCCATGG	0.572			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								False	0	False	21:39755612	0	A	39755612	G	A	39755612	3	1	127	1	0	0	0	0	1	0	0	0	5254	1087	38	1	290	1	ERG	21	39755612	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	28785594	39755612	8374283	146	32583											
PCNT	5116	broad.mit.edu	37	chr21	47786815	47786815	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attctttggaatcctgttacCtctctgaatttcagaccatc	5	11	3	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:47786815C>A	ENST00000359568.5	+	15	3033	c.2926C>A	c.(2926-2928)Ctc>Atc	p.L976I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	976					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ATCCTGTTACCTCTCTGAATT	0.537													False	0	True	21:47786815	0	A	47786815	C	A	47786815	3	1	127	1	0	0	0	0	1	0	0	0	11658	681	24	3	2984	3	PCNT	21	47786815	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	8031203	47786815	343080	147	32584											
ZNF280B	140883	broad.mit.edu	37	chr22	22842836	22842836	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctgttccggctgcccTtctcctttatgctgtccata	7	14	3	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:22842836T>A	ENST00000360412.2	-	4	1663	c.888A>T	c.(886-888)gaA>gaT	p.E296D	ZNF280B_ENST00000406426.1_Missense_Mutation_p.E296D	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCGGCTGCCCTTCTCCTTTAT	0.388													False	0	True	22:22842836	0	A	22842836	T	A	22842836	3	1	127	1	0	0	0	0	1	0	0	0	17898	1606	56	5	747	5	ZNF280B	22	22842836	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08		22842836	28461730	148	32585											
ZNRF3	84133	broad.mit.edu	37	chr22	29439358	29439358	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgcagatgccattaagctGatgaacatcgtcaacaagca	10	9	1	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:29439358G>A	ENST00000544604.2	+	4	748	c.573G>A	c.(571-573)ctG>ctA	p.L191L	ZNRF3_ENST00000332811.4_Silent_p.L91L|ZNRF3_ENST00000406323.3_Silent_p.L91L|ZNRF3_ENST00000402174.1_Silent_p.L91L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	191						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCATTAAGCTGATGAACATCG	0.562													False	0	False	22:29439358	0	A	29439358	G	A	29439358	2	1	127	1	0	0	0	0	0	0	0	1	18295	1277	45	2		2	ZNRF3	22	29439358	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	6596522	29439358	21865208	149	32586											
SLC5A1	6523	broad.mit.edu	37	chr22	32481008	32481008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgccaggaatgatcagccGcattctgtacacaggtaata	10	9	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:32481008G>A	ENST00000266088.4	+	9	1257	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R209H	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	336					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.R336H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ATGATCAGCCGCATTCTGTAC	0.483													False	0	False	22:32481008	0	A	32481008	G	A	32481008	3	1	127	1	0	0	0	0	1	0	0	0	14741	1087	38	1	1041	1	SLC5A1	22	32481008	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3041650	32481008	18823558	150	32587											
CACNG2	10369	broad.mit.edu	37	chr22	36960745	36960745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcgcgggccgtggcccGcagctgtttgtgccggtcga	18	13	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:36960745G>A	ENST00000300105.6	-	4	1606	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	209					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCCGTGGCCCGCAGCTGTTTG	0.667													False	0	True	22:36960745	0	A	36960745	G	A	36960745	3	1	127	1	0	0	0	0	1	0	0	0	2577	1086	38	1	350	1	CACNG2	22	36960745	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	4479737	36960745	14343821	151	32588											
PCDH11X	27328	broad.mit.edu	37	chrX	91090851	91090851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggttgccattttgccGgatgaaatatttagactggt	13	5	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:91090851G>A	ENST00000373094.1	+	1	1193	c.348G>A	c.(346-348)ccG>ccA	p.P116P	PCDH11X_ENST00000406881.1_Silent_p.P116P|PCDH11X_ENST00000395337.2_Silent_p.P116P|PCDH11X_ENST00000373088.1_Silent_p.P116P|PCDH11X_ENST00000298274.8_Silent_p.P116P|PCDH11X_ENST00000361655.2_Silent_p.P116P|PCDH11X_ENST00000373097.1_Silent_p.P116P|PCDH11X_ENST00000361724.1_Silent_p.P116P|PCDH11X_ENST00000504220.2_Silent_p.P116P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	116	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCATTTTGCCGGATGAAATAT	0.393													False	0	False	X:91090851	0	A	91090851	G	A	91090851	2	1	127	1	0	0	0	0	0	0	0	1	11576	1103	39	1		1	PCDH11X	23	91090851	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		91090851	64179709	152	32589											
ARMCX3	51566	broad.mit.edu	37	chrX	100880318	100880318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaattcagatgataccGttttgtcccctcaagagcta	6	14	2	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:100880318G>A	ENST00000341189.4	+	5	1215	c.349G>A	c.(349-351)Gtt>Att	p.V117I	ARMCX3_ENST00000537169.1_Missense_Mutation_p.V117I|ARMCX3_ENST00000471229.2_Missense_Mutation_p.V117I	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	117						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						AGATGATACCGTTTTGTCCCC	0.517													False	0	True	X:100880318	0	A	100880318	G	A	100880318	3	1	127	1	0	0	0	0	1	0	0	0	965	1145	40	1	351	1	ARMCX3	23	100880318	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	9789467	100880318	54390242	153	32590											
CXorf56	63932	broad.mit.edu	37	chrX	118699217	118699217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactaggaccatctggccGcacaaacagtagtaaacatg	9	11	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	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	34							protein binding			cervix(1)|endometrium(2)|lung(7)	10						CCATCTGGCCGCACAAACAGT	0.577													False	0	False	X:118699217	0	A	118699217	G	A	118699217	2	1	127	1	0	0	0	0	0	0	0	1	4137	1079	38	1		1	CXorf56	23	118699217	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	17818899	118699217	36571343	154	32591											
IGSF1	3547	broad.mit.edu	37	chrX	130411143	130411143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaattgaaagtcactcggGcaccaggggtgaccacaggg	14	10	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:130411143G>A	ENST00000370904.1	-	20	3261	c.2351C>T	c.(2350-2352)gCc>gTc	p.A784V	IGSF1_ENST00000361420.3_Missense_Mutation_p.A793V|IGSF1_ENST00000370903.3_Missense_Mutation_p.A798V|IGSF1_ENST00000370910.1_Missense_Mutation_p.A784V|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	793	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTCACTCGGGCACCAGGGGT	0.448													False	0	True	X:130411143	0	A	130411143	G	A	130411143	3	1	127	1	0	0	0	0	1	0	0	0	7646	1203	42	2	1660	2	IGSF1	23	130411143	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	11711926	130411143	24859417	155	32592											
GPC3	2719	broad.mit.edu	37	chrX	132730547	132730547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcatcttcatcatcaccGcagtctccactttcaaaccc	2	18	7	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:132730547G>A	ENST00000370818.3	-	7	1939	c.1494C>T	c.(1492-1494)tgC>tgT	p.C498C	GPC3_ENST00000543339.1_Silent_p.C444C|GPC3_ENST00000394299.2_Silent_p.C521C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	498						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CATCATCACCGCAGTCTCCAC	0.463			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				False	0	False	X:132730547	0	A	132730547	G	A	132730547	2	1	127	1	0	0	0	0	0	0	0	1	6645	1079	38	1		1	GPC3	23	132730547	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	2319404	132730547	22540013	156	32593											
MAGEC2	51438	broad.mit.edu	37	chrX	141291654	141291654	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaaagtggaagaggcggaGgaggcttcctcctcttcctc	12	11	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:141291654G>T	ENST00000247452.3	-	3	467	c.120C>A	c.(118-120)tcC>tcA	p.S40S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	40	Ser-rich.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGGCGGAGGAGGCTTCCT	0.522										HNSCC(46;0.14)			False	0	False	X:141291654	0	T	141291654	G	T	141291654	2	4	127	1	0	0	0	0	0	0	0	1	9248	987	35	3		3	MAGEC2	23	141291654	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	8561107	141291654	13978906	157	32594											
FNDC5	252995	broad.mit.edu	37	chr1	33330257	33330257	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccacccaggcccaggtcttGccctcaccttgctgcggaga	10	18	2	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:33330257G>T	ENST00000496770.1	-	5	629	c.416C>A	c.(415-417)gCa>gAa	p.A139E	FNDC5_ENST00000609187.1_Intron|FNDC5_ENST00000373471.3_Intron|FNDC5_ENST00000481487.1_Intron	NM_001171941.1	NP_001165412.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5							integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCCAGGTCTTGCCCTCACCTT	0.602													False	0	True	1:33330257	0	T	33330257	G	T	33330257	3	4	128	1	0	0	0	0	1	0	0	0	6012	1319	46	3	78	3	FNDC5	1	33330257	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08		33330257	215920364	1	32595											
PRKACB	5567	broad.mit.edu	37	chr1	84668430	84668430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaaatggcagctggctAtcccccattctttgcagacc	8	13	1	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:84668430A>G	ENST00000370689.2	+	8	971	c.707A>G	c.(706-708)tAt>tGt	p.Y236C	PRKACB_ENST00000394839.2_Missense_Mutation_p.Y206C|PRKACB_ENST00000370682.3_Missense_Mutation_p.Y240C|PRKACB_ENST00000370685.3_Missense_Mutation_p.Y283C|PRKACB_ENST00000370680.1_Missense_Mutation_p.Y242C|PRKACB_ENST00000394838.2_Missense_Mutation_p.Y243C|PRKACB_ENST00000370688.3_Missense_Mutation_p.Y236C	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	236	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GCAGCTGGCTATCCCCCATTC	0.368													False	0	False	1:84668430	0	G	84668430	A	G	84668430	3	3	128	1	0	0	0	0	1	0	0	0	12574	449	16	4	928	4	PRKACB	1	84668430	Missense_Mutation	SNP	A	TCGA-RB-AA9M-01A-11D-A397-08	51338173	84668430	164582191	2	32596											
NBPF16	728936	broad.mit.edu	37	chr1	148753330	148753330	+	Frame_Shift_Del	DEL	T	T	-													tgttattcgactccttcagaTtatcttgaactgcctgactt							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:148753330delT	ENST00000417839.1	+	12	1537	c.1347delT	c.(1345-1347)gatfs	p.D449fs		NM_001102663.1	NP_001096133.1			neuroblastoma breakpoint family, member 16											breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CTCCTTCAGATTATCTTGAAC	0.493													False	2	False	1:148753330	0	-	148753330	T	-	148753330	7	5	128	1	0	1	0	1	0	0	0	0	10264	1490	52	0	3462	0	NBPF16	1	148753330	Frame_Shift_Del	DEL	T	TCGA-RB-AA9M-01A-11D-A397-08	64084900	148753330	100497291	3	32597											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	128	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-RB-AA9M-01A-11D-A397-08	3918185	152671515	96579106	4	32598											
C2orf44	80304	broad.mit.edu	37	chr2	24262247	24262247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctctccactgtgaagccGcaaatcagttaggacaactt	8	12	2	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:24262247G>A	ENST00000295148.4	-	2	175	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	C2orf44_ENST00000406895.3_Missense_Mutation_p.R40W	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	40							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGAAGCCGCAAATCAGTT	0.507			T	ALK	NSCLC								False	0	False	2:24262247	0	A	24262247	G	A	24262247	3	1	128	1	0	0	0	0	1	0	0	0	2184	1086	38	1	2059	1	C2orf44	2	24262247	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08		24262247	218937126	5	32599											
SOCS5	0	broad.mit.edu	37	chr2	46986955	46986955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caacagatccctgcatgcccGaattgagcagtggaatcaca	9	12	1	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:46986955G>A	ENST00000306503.5	+	2	1458	c.1286G>A	c.(1285-1287)cGa>cAa	p.R429Q	SOCS5_ENST00000394861.2_Missense_Mutation_p.R429Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	429	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			p.R429L(1)|p.R429Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CTGCATGCCCGAATTGAGCAG	0.498													False	0	True	2:46986955	0	A	46986955	G	A	46986955	3	1	128	1	0	0	0	0	1	0	0	0	14997	1058	37	1	1288	1	SOCS5	2	46986955	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	22724708	46986955	196212418	6	32600											
TSPYL6	388951	broad.mit.edu	37	chr2	54482353	54482353	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaggatctgacctcataCacctttacaatcagcttgtt	6	12	3	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:54482353C>A	ENST00000317802.7	-	1	1056	c.936G>T	c.(934-936)gtG>gtT	p.V312V	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	312					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TGACCTCATACACCTTTACAA	0.473													False	0	False	2:54482353	0	A	54482353	C	A	54482353	2	1	128	1	0	0	0	0	0	0	0	1	16746	465	17	3		3	TSPYL6	2	54482353	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	7495398	54482353	188717020	7	32601											
TTN	7273	broad.mit.edu	37	chr2	179430078	179430078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtagctgtttcttcaacGtttactcttgttgtctgttt	9	7	4	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:179430078G>A	ENST00000589042.1	-	326	81005	c.80781C>T	c.(80779-80781)aaC>aaT	p.N26927N	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.N25286N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.N17987N|TTN_ENST00000460472.2_Silent_p.N17862N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.N24359N|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25286	Fibronectin type-III 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTCAACGTTTACTCTTG	0.393													False	0	True	2:179430078	0	A	179430078	G	A	179430078	2	1	128	1	0	0	0	0	0	0	0	1	16819	1136	40	1		1	TTN	2	179430078	Silent	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	124947725	179430078	63769295	8	32602											
TTN	7273	broad.mit.edu	37	chr2	179483095	179483095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtctttctcttaatgtcaCgtctttcaacaacgtaacct	5	11	5	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:179483095C>T	ENST00000589042.1	-	252	47314	c.47090G>A	c.(47089-47091)cGt>cAt	p.R15697H	TTN_ENST00000342175.6_Missense_Mutation_p.R6824H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14056H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6757H|TTN_ENST00000460472.2_Missense_Mutation_p.R6632H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13129H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14056	Ig-like 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTAATGTCACGTCTTTCAAC	0.438													False	0	False	2:179483095	0	T	179483095	C	T	179483095	3	4	128	1	0	0	0	0	1	0	0	0	16819	536	19	1	61047	1	TTN	2	179483095	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	53017	179483095	63716278	9	32603											
DNAH7	56171	broad.mit.edu	37	chr2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcccagtgcctggggcGcaaaccaggattacagatca	12	13	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R850C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCCTGGGGCGCAAACCAGGA	0.453													False	0	False	2:196825327	0	A	196825327	G	A	196825327	3	1	128	1	0	0	0	0	1	0	0	0	4636	1087	38	1	9718	1	DNAH7	2	196825327	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	17342232	196825327	46374046	10	32604											
MAP2	4133	broad.mit.edu	37	chr2	210558569	210558569	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgcaacatcagctgagcttGatatgccattttatgaagat	8	8	1	4			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:210558569G>C	ENST00000360351.4	+	7	2181	c.1675G>C	c.(1675-1677)Gat>Cat	p.D559H	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D555H|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	559					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCTGAGCTTGATATGCCATT	0.368													False	0	False	2:210558569	0	C	210558569	G	C	210558569	3	2	128	1	0	0	0	0	1	0	0	0	9302	1290	45	5	1689	5	MAP2	2	210558569	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	13733242	210558569	32640804	11	32605											
CNTN4	152330	broad.mit.edu	37	chr3	2861248	2861248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtgctactgtgtggccCgccaccccattctggaggta	12	12	1	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:2861248C>T	ENST00000397461.1	+	6	821	c.437C>T	c.(436-438)cCg>cTg	p.P146L	CNTN4_ENST00000427331.1_Missense_Mutation_p.P146L|CNTN4_ENST00000418658.1_Missense_Mutation_p.P146L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	146	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTGTGTGGCCCGCCACCCCAT	0.448													False	0	True	3:2861248	0	T	2861248	C	T	2861248	3	4	128	1	0	0	0	0	1	0	0	0	3666	652	23	1	451	1	CNTN4	3	2861248	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		2861248	195161182	12	32606											
ZBTB47	92999	broad.mit.edu	37	chr3	42703100	42703100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagaagttctacaccatgGcccacgtgcgtaagcacatg	10	11	1	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:42703100G>A	ENST00000457842.3	+	3	1878	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	ZBTB47_ENST00000232974.6_Missense_Mutation_p.A533T|ZBTB47_ENST00000505904.1_Missense_Mutation_p.A79T	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		CTACACCATGGCCCACGTGCG	0.522													False	0	True	3:42703100	0	A	42703100	G	A	42703100	3	1	128	1	0	0	0	0	1	0	0	0	17631	1203	42	2	1603	2	ZBTB47	3	42703100	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	39841852	42703100	155319330	13	32607											
QRICH1	54870	broad.mit.edu	37	chr3	49094328	49094328	+	Silent	SNP	C	C	T													tggagttgctgctgctgctgCtgtggtggtggtgtctgttc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:49094328C>T	ENST00000395443.2	-	3	1777	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Silent_p.Q435Q|QRICH1_ENST00000357496.2_Silent_p.Q435Q	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	435	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		gctgctgctgctgtggtggtg	0.562													False	0	True	3:49094328	0	T	49094328	C	T	49094328	2	4	128	1	0	0	0	0	0	0	0	1	12958	796	28	2		2	QRICH1	3	49094328	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	6391228	49094328	148928102	14	32608	381	2									
QRICH1	54870	broad.mit.edu	37	chr3	49094329	49094329	+	Missense_Mutation	SNP	T	T	G													ggagttgctgctgctgctgcTgtggtggtggtgtctgttcc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:49094329T>G	ENST00000395443.2	-	3	1776	c.1304A>C	c.(1303-1305)cAg>cCg	p.Q435P	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P|QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	435	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ctgctgctgctgtggtggtgg	0.562													False	0	True	3:49094329	0	G	49094329	T	G	49094329	3	3	128	1	0	0	0	0	1	0	0	0	12958	1580	55	4	1058	4	QRICH1	3	49094329	Missense_Mutation	SNP	T	TCGA-RB-AA9M-01A-11D-A397-08	1	49094329	148928101	15	32609	381	2									
ARHGAP31	57514	broad.mit.edu	37	chr3	119101232	119101232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctggccctggtgtgggcGccaaacctcctcaggtaacc	11	15	1	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:119101232G>A	ENST00000264245.4	+	5	1057	c.525G>A	c.(523-525)gcG>gcA	p.A175A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	175	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGGTGTGGGCGCCAAACCTCC	0.557													False	0	False	3:119101232	0	A	119101232	G	A	119101232	2	1	128	1	0	0	0	0	0	0	0	1	882	1074	38	1		1	ARHGAP31	3	119101232	Silent	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	70006903	119101232	78921198	16	32610											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	128	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-RB-AA9M-01A-11D-A397-08		40434705	150719571	17	32611											
SDHA	6389	broad.mit.edu	37	chr5	228381	228381	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggggagtgccgtggtgtcAtcgcactgtgcatagaggac	16	8	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:228381A>T	ENST00000264932.6	+	6	818	c.703A>T	c.(703-705)Atc>Ttc	p.I235F	SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	235					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCGTGGTGTCATCGCACTGTG	0.428									Familial Paragangliomas				False	0	False	5:228381	0	T	228381	A	T	228381	3	4	128	1	0	0	0	0	1	0	0	0	14044	217	8	5	725	5	SDHA	5	228381	Missense_Mutation	SNP	A	TCGA-RB-AA9M-01A-11D-A397-08		228381	180686879	18	32612											
PDZD2	23037	broad.mit.edu	37	chr5	32108081	32108081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttattctcgtaggtggtgCggctgaacaagctggaataa	13	6	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:32108081C>T	ENST00000438447.1	+	25	8748	c.8360C>T	c.(8359-8361)gCg>gTg	p.A2787V	PDZD2_ENST00000513490.1_3'UTR|PDZD2_ENST00000282493.3_Missense_Mutation_p.A2787V|CTD-2152M20.2_ENST00000503441.1_RNA			O15018	PDZD2_HUMAN	PDZ domain containing 2	2787	PDZ 6.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTAGGTGGTGCGGCTGAACAA	0.348													False	0	False	5:32108081	0	T	32108081	C	T	32108081	3	4	128	1	0	0	0	0	1	0	0	0	11769	768	27	1	8454	1	PDZD2	5	32108081	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	31879700	32108081	148807179	19	32613											
FYB	2533	broad.mit.edu	37	chr5	39127879	39127879	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcaatcccatcataaAtgtcatcatctggtggtgga	7	11	6	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:39127879A>T	ENST00000351578.6	-	11	2061	c.1871T>A	c.(1870-1872)aTt>aAt	p.I624N	FYB_ENST00000540520.1_Missense_Mutation_p.I634N|FYB_ENST00000505428.1_Missense_Mutation_p.I624N|FYB_ENST00000515010.1_Missense_Mutation_p.I624N|FYB_ENST00000512982.1_Missense_Mutation_p.I624N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	624					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CCCATCATAAATGTCATCATC	0.328													False	0	True	5:39127879	0	T	39127879	A	T	39127879	3	4	128	1	0	0	0	0	1	0	0	0	6166	101	4	5	654	5	FYB	5	39127879	Missense_Mutation	SNP	A	TCGA-RB-AA9M-01A-11D-A397-08	7019798	39127879	141787381	20	32614											
CMYA5	202333	broad.mit.edu	37	chr5	79032394	79032394	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaaatcagaagccatgctCgcagaggctcacccagaaat	9	11	2	3			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:79032394C>T	ENST00000446378.2	+	2	7837	c.7806C>T	c.(7804-7806)ctC>ctT	p.L2602L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2602						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGCCATGCTCGCAGAGGCTC	0.398													False	0	False	5:79032394	0	T	79032394	C	T	79032394	2	4	128	1	0	0	0	0	0	0	0	1	3613	871	31	1		1	CMYA5	5	79032394	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	39904515	79032394	101882866	21	32615											
KIF4B	285643	broad.mit.edu	37	chr5	154395466	154395466	+	Frame_Shift_Del	DEL	C	C	-													aagaacgagaccgtaagaggCaatatgagctgctcaaactt							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:154395466delC	ENST00000435029.4	+	1	2207	c.2047delC	c.(2047-2049)caafs	p.Q683fs		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	683	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCGTAAGAGGCAATATGAGCT	0.423													False	1	False	5:154395466	0	-	154395466	C	-	154395466	7	5	128	1	0	1	0	1	0	0	0	0	8354	711	25	0	2049	0	KIF4B	5	154395466	Frame_Shift_Del	DEL	C	TCGA-RB-AA9M-01A-11D-A397-08	75363072	154395466	26519794	22	32616											
FAM71B	153745	broad.mit.edu	37	chr5	156590151	156590151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtaatactgcctgcaaaCgccgcactcaagctgctgtc	9	14	1	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:156590151C>T	ENST00000302938.4	-	2	1220	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	375						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCAAACGCCGCACTCA	0.582													False	0	True	5:156590151	0	T	156590151	C	T	156590151	2	4	128	1	0	0	0	0	0	0	0	1	5648	523	19	1		1	FAM71B	5	156590151	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	2194685	156590151	24325109	23	32617											
FLT4	2324	broad.mit.edu	37	chr5	180048549	180048549	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggccagcctcaccctgcacCgacaggtacttcttgtggca	10	16	2	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:180048549C>G	ENST00000261937.6	-	13	2091	c.2013G>C	c.(2011-2013)tcG>tcC	p.S671S	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.S671S|FLT4_ENST00000393347.3_Silent_p.S671S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	671	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CACCCTGCACCGACAGGTACT	0.672													False	0	False	5:180048549	0	G	180048549	C	G	180048549	2	3	128	1	0	0	0	0	0	0	0	1	5984	639	23	5		5	FLT4	5	180048549	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	23458398	180048549	866711	24	32618											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	128	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-RB-AA9M-01A-11D-A397-08		7393450	163721617	25	32619											
GCNT2	2651	broad.mit.edu	37	chr6	10586309	10586309	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagtagccaattgagcccGccaaaaagttatgagaagct	9	9	0	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:10586309G>A	ENST00000265012.4	+	1	331	c.87G>A	c.(85-87)ccG>ccA	p.P29P	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000379597.3_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	30						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AATTGAGCCCGCCAAAAAGTT	0.403													False	0	True	6:10586309	0	A	10586309	G	A	10586309	2	1	128	1	0	0	0	0	0	0	0	1	6344	1074	38	1		1	GCNT2	6	10586309	Silent	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	3192859	10586309	160528758	26	32620											
SCAND3	114821	broad.mit.edu	37	chr6	28543263	28543263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttagactttaatgaccGcaaaaaagttaactttgtac	5	8	0	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:28543263G>A	ENST00000452236.2	-	3	1836	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	407	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTAATGACCGCAAAAAAGTT	0.373													False	0	False	6:28543263	0	A	28543263	G	A	28543263	3	1	128	1	0	0	0	0	1	0	0	0	13956	1086	38	1	2766	1	SCAND3	6	28543263	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	17956954	28543263	142571804	27	32621											
GRIK2	2898	broad.mit.edu	37	chr6	102516294	102516294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtcggttaaaacataagCcacaggccccagttattgtg	10	10	0	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:102516294C>T	ENST00000421544.1	+	16	3125	c.2635C>T	c.(2635-2637)Cca>Tca	p.P879S	GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.P830S|GRIK2_ENST00000369137.3_Missense_Mutation_p.P803S|GRIK2_ENST00000413795.1_3'UTR	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	879					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AAAACATAAGCCACAGGCCCC	0.423													False	0	False	6:102516294	0	T	102516294	C	T	102516294	3	4	128	1	0	0	0	0	1	0	0	0	6821	739	26	2	2870	2	GRIK2	6	102516294	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	73973031	102516294	68598773	28	32622											
GRM1	2911	broad.mit.edu	37	chr6	146480607	146480607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctttgaccgactcttgcGcaaactccgagagaggcttc	11	12	1	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:146480607G>A	ENST00000392299.2	+	3	1294	c.824G>A	c.(823-825)cGc>cAc	p.R275H	GRM1_ENST00000282753.1_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	275					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R275H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGACTCTTGCGCAAACTCCGA	0.577													False	0	False	6:146480607	0	A	146480607	G	A	146480607	3	1	128	1	0	0	0	0	1	0	0	0	6843	1087	38	1	830	1	GRM1	6	146480607	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	43964313	146480607	24634460	29	32623											
KIAA0895	23366	broad.mit.edu	37	chr7	36374693	36374693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctccagccaatgctcaCgtgcagtggacacattgata	8	13	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr7:36374693C>T	ENST00000317020.6	-	3	1109	c.809G>A	c.(808-810)cGt>cAt	p.R270H	KIAA0895_ENST00000453212.1_Missense_Mutation_p.R76H|KIAA0895_ENST00000297063.6_Missense_Mutation_p.R321H|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R308H|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R218H|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R318H	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	321										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAATGCTCACGTGCAGTGGA	0.433													False	0	False	7:36374693	0	T	36374693	C	T	36374693	3	4	128	1	0	0	0	0	1	0	0	0	8247	536	19	1	616	1	KIAA0895	7	36374693	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		36374693	122763970	30	32624											
HGF	3082	broad.mit.edu	37	chr7	81358937	81358937	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcacttgcacttgaaattttCaggagtcatgtcatgctcgt	8	9	4	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr7:81358937C>A	ENST00000222390.5	-	8	1250	c.1024G>T	c.(1024-1026)Gaa>Taa	p.E342*	HGF_ENST00000457544.2_Nonsense_Mutation_p.E337*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	342	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTGAAATTTTCAGGAGTCATG	0.418													False	0	True	7:81358937	0	A	81358937	C	A	81358937	4	1	128	1	0	0	0	0	0	1	0	0	7132	835	29	3	1206	3	HGF	7	81358937	Nonsense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	44984244	81358937	77779726	31	32625											
MUC17	140453	broad.mit.edu	37	chr7	100677537	100677537	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctagaacactttcagcaaCtcctgttgacaccagcacac	7	14	1	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr7:100677537C>G	ENST00000306151.4	+	3	2904	c.2840C>G	c.(2839-2841)aCt>aGt	p.T947S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	947	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTCAGCAACTCCTGTTGAC	0.507													False	0	False	7:100677537	0	G	100677537	C	G	100677537	3	3	128	1	0	0	0	0	1	0	0	0	10041	565	20	5	2850	5	MUC17	7	100677537	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	19318600	100677537	58461126	32	32626											
SDCBP	6386	broad.mit.edu	37	chr8	59484848	59484848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacgtgcaaatgtggccgTggtttctggtgcaccacttc	11	10	1	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr8:59484848T>C	ENST00000523483.1	+	5	1792	c.278T>C	c.(277-279)gTg>gCg	p.V93A	SDCBP_ENST00000447267.2_Missense_Mutation_p.V72A|SDCBP_ENST00000447182.2_Missense_Mutation_p.V72A|SDCBP_ENST00000260130.4_Missense_Mutation_p.V72A|SDCBP_ENST00000413219.2_Missense_Mutation_p.V72A|SDCBP_ENST00000522243.1_3'UTR|SDCBP_ENST00000520168.1_Missense_Mutation_p.V72A|SDCBP_ENST00000422546.2_Missense_Mutation_p.V72A|SDCBP_ENST00000424270.2_Missense_Mutation_p.V66A			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	72					actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AATGTGGCCGTGGTTTCTGGT	0.363													False	0	False	8:59484848	0	C	59484848	T	C	59484848	3	2	128	1	0	0	0	0	1	0	0	0	14036	1696	59	4	225	4	SDCBP	8	59484848	Missense_Mutation	SNP	T	TCGA-RB-AA9M-01A-11D-A397-08		59484848	86879174	33	32627											
FER1L6	654463	broad.mit.edu	37	chr8	125035751	125035751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagagtggcctatgcccGcatcgcctccaaagacctcc	10	16	0	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr8:125035751G>A	ENST00000522917.1	+	18	2407	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H	FER1L6_ENST00000399018.1_Missense_Mutation_p.R734H|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	734						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCTATGCCCGCATCGCCTCC	0.527													False	0	True	8:125035751	0	A	125035751	G	A	125035751	3	1	128	1	0	0	0	0	1	0	0	0	5855	1087	38	1	2267	1	FER1L6	8	125035751	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	65550903	125035751	21328271	34	32628											
SLC45A4	57210	broad.mit.edu	37	chr8	142228865	142228865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggtagtccagggccagctCgtgctccgactgtacctcgt	13	14	0	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr8:142228865C>T	ENST00000519067.1	-	4	1024	c.721G>A	c.(721-723)Gag>Aag	p.E241K	SLC45A4_ENST00000024061.3_Missense_Mutation_p.E241K|SLC45A4_ENST00000517878.1_Missense_Mutation_p.E292K|SLC45A4_ENST00000433583.2_Missense_Mutation_p.E234K			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	292					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGGCCAGCTCGTGCTCCGAC	0.701													False	0	False	8:142228865	0	T	142228865	C	T	142228865	3	4	128	1	0	0	0	0	1	0	0	0	14723	893	31	1	1695	1	SLC45A4	8	142228865	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	17193114	142228865	4135157	35	32629											
CDKN2A	1029	broad.mit.edu	37	chr9	21974760	21974760	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcacctcctctacccgacCccgggccgcggccgtggcca	11	22	1	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr9:21974760C>A	ENST00000304494.5	-	1	337	c.67G>T	c.(67-69)Ggt>Tgt	p.G23C	CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G23C|CDKN2A_ENST00000498124.1_Missense_Mutation_p.G23C|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G23C	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	23			G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.G23S(1)|p.0(1)|p.R22fs*14(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCTACCCGACCCCGGGCCGCG	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	True	9:21974760	0	A	21974760	C	A	21974760	3	1	128	1	0	0	0	0	1	0	0	0	3184	623	22	3	616	3	CDKN2A	9	21974760	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		21974760	119238671	36	32630											
TMEM215	401498	broad.mit.edu	37	chr9	32784414	32784414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgagctgctgtgggtccGcaaattgccctgcttccgga	13	12	0	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr9:32784414G>A	ENST00000342743.5	+	2	598	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	78						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTGTGGGTCCGCAAATTGCCC	0.597													False	0	False	9:32784414	0	A	32784414	G	A	32784414	3	1	128	1	0	0	0	0	1	0	0	0	16220	1087	38	1	235	1	TMEM215	9	32784414	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	10809654	32784414	108429017	37	32631											
FCN1	2219	broad.mit.edu	37	chr9	137803031	137803031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgtacttctctgcctcGtcagccaccttgaatgattt	7	12	2	2	rs145090957		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr9:137803031G>A	ENST00000371806.3	-	8	772	c.681C>T	c.(679-681)gaC>gaT	p.D227D		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	227	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TCTCTGCCTCGTCAGCCACCT	0.547													False	0	False	9:137803031	0	A	137803031	G	A	137803031	2	1	128	1	0	0	0	0	0	0	0	1	5831	1136	40	1		1	FCN1	9	137803031	Silent	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	105018617	137803031	3410400	38	32632											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgccattgaaatgcaaaaGtctgttccaaataaagcctt	6	10	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:37486356G>C	ENST00000374660.1	+	35	2952	c.2853G>C	c.(2851-2853)aaG>aaC	p.K951N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1000						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGCAAAAGTCTGTTCCAA	0.308													False	0	True	10:37486356	0	C	37486356	G	C	37486356	3	2	128	1	0	0	0	0	1	0	0	0	658	1020	36	5	2610	5	ANKRD30A	10	37486356	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08		37486356	98048391	39	32633											
RASSF4	83937	broad.mit.edu	37	chr10	45467292	45467292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttccagctgagacaccGtgaggtgagcctgttgctct	13	11	1	3	rs61759871		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:45467292G>A	ENST00000340258.5	+	3	247	c.134G>A	c.(133-135)cGt>cAt	p.R45H	RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Missense_Mutation_p.R45H|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000472561.1_3'UTR	NM_032023.3	NP_114412.2	Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4						cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGAGACACCGTGAGGTGAGC	0.522													False	0	True	10:45467292	0	A	45467292	G	A	45467292	3	1	128	1	0	0	0	0	1	0	0	0	13167	1145	40	1	140	1	RASSF4	10	45467292	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	7980936	45467292	90067455	40	32634											
HK1	3098	broad.mit.edu	37	chr10	71103607	71103607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagtatctctatgccatgCggctctccgatgaaactctc	7	13	3	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:71103607C>T	ENST00000448642.2	+	7	582	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	HK1_ENST00000298649.3_Missense_Mutation_p.R29W|HK1_ENST00000404387.2_Missense_Mutation_p.R34W|HK1_ENST00000359426.6_Missense_Mutation_p.R30W|HK1_ENST00000360289.2_Missense_Mutation_p.R18W|HK1_ENST00000494253.1_3'UTR			P19367	HXK1_HUMAN	hexokinase 1	30	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.R34W(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTATGCCATGCGGCTCTCCGA	0.527													False	0	False	10:71103607	0	T	71103607	C	T	71103607	3	4	128	1	0	0	0	0	1	0	0	0	7237	759	27	1	272	1	HK1	10	71103607	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	25636315	71103607	64431140	41	32635											
C10orf90	118611	broad.mit.edu	37	chr10	128147750	128147750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcagccgttcttgtgagcGagaaatgaactgaggcttac	11	9	2	4			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:128147750G>A	ENST00000284694.7	-	6	1876	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C	C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.R489C|C10orf90_ENST00000544758.1_Missense_Mutation_p.R683C|C10orf90_ENST00000356858.3_Missense_Mutation_p.R539C	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	586										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCTTGTGAGCGAGAAATGAAC	0.498													False	0	False	10:128147750	0	A	128147750	G	A	128147750	3	1	128	1	0	0	0	0	1	0	0	0	1631	1058	37	1	359	1	C10orf90	10	128147750	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	57044143	128147750	7386997	42	32636											
MKI67	4288	broad.mit.edu	37	chr10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcctgctggtttgggcGtaagcatggctttccctgct	11	13	0	0	rs117795868	by1000genomes	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGCGTAAGCATGGC	0.463													False	0	False	10:129906577	0	A	129906577	G	A	129906577	3	1	128	1	0	0	0	0	1	0	0	0	9665	1145	40	1	6255	1	MKI67	10	129906577	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	1758827	129906577	5628170	43	32637											
CSTF3	1479	broad.mit.edu	37	chr11	33120306	33120306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccttttcatacttcatgCgactctaaggtggtacagaa	8	9	3	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:33120306C>T	ENST00000323959.4	-	13	1197	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	353					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATACTTCATGCGACTCTAAGG	0.398													False	0	False	11:33120306	0	T	33120306	C	T	33120306	3	4	128	1	0	0	0	0	1	0	0	0	4011	768	27	1	1131	1	CSTF3	11	33120306	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		33120306	101886210	44	32638											
DDB2	1643	broad.mit.edu	37	chr11	47259552	47259552	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcttctggcatcagttcGgtgaggcttgggtcctcaaa	12	9	4	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:47259552G>A	ENST00000256996.4	+	8	1383	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	DDB2_ENST00000378600.3_Splice_Site_p.S207S|DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378603.3_Splice_Site_p.S332S	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	396					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GCATCAGTTCGGTGAGGCTTG	0.463			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	11:47259552	0	A	47259552	G	A	47259552	5	1	128	1	0	0	0	0	0	0	1	0	4349	1130	39	1	1218	1	DDB2	11	47259552	Splice_Site	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	14139246	47259552	87746964	45	32639											
SF3B2	10992	broad.mit.edu	37	chr11	65820570	65820570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctccacctcccatgtcgGcacaggtagggagattcttc	10	15	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:65820570G>A	ENST00000528302.1	+	3	307	c.253G>A	c.(253-255)Gca>Aca	p.A85T	SF3B2_ENST00000322535.6_Missense_Mutation_p.A85T			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	85					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TCCCATGTCGGCACAGGTAGG	0.493													False	0	False	11:65820570	0	A	65820570	G	A	65820570	3	1	128	1	0	0	0	0	1	0	0	0	14232	1203	42	2	263	2	SF3B2	11	65820570	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	18561018	65820570	69185946	46	32640											
C2CD2L	9854	broad.mit.edu	37	chr11	118984833	118984833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctatccctgggctatgCggcatccctggaagcctcag	13	14	1	0	rs148221836	by1000genomes	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:118984833C>T	ENST00000336702.3	+	13	2029	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	C2CD2L_ENST00000528586.1_Missense_Mutation_p.A304V	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	556						integral to membrane		p.A557V(2)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CTGGGCTATGCGGCATCCCTG	0.612													False	0	False	11:118984833	0	T	118984833	C	T	118984833	3	4	128	1	0	0	0	0	1	0	0	0	2169	768	27	1	1720	1	C2CD2L	11	118984833	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	53164263	118984833	16021683	47	32641											
CLEC12A	160364	broad.mit.edu	37	chr12	10131591	10131591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctccctctcatgtatggCgtccagcagccttgtttctg	9	14	2	0	rs141455664	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:10131591C>T	ENST00000304361.4	+	2	300	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C|CLEC12A_ENST00000350667.4_Intron	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	40						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TCATGTATGGCGTCCAGCAGC	0.433													False	0	False	12:10131591	0	T	10131591	C	T	10131591	3	4	128	1	0	0	0	0	1	0	0	0	3520	768	27	1	124	1	CLEC12A	12	10131591	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		10131591	123720304	48	32642											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	128	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	15266693	25398284	108453611	49	32643											
KRT72	140807	broad.mit.edu	37	chr12	52994873	52994873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcccgctcctgggcgcGcaccctctggatctcggggt	13	17	2	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:52994873G>A	ENST00000293745.2	-	1	449	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	KRT72_ENST00000354310.4_Missense_Mutation_p.R122C|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000537672.2_Missense_Mutation_p.R122C	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	122	Head.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCCTGGGCGCGCACCCTCTGG	0.647													False	0	True	12:52994873	0	A	52994873	G	A	52994873	3	1	128	1	0	0	0	0	1	0	0	0	8535	1087	38	1	1207	1	KRT72	12	52994873	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	27596589	52994873	80857022	50	32644											
HVCN1	84329	broad.mit.edu	37	chr12	111088053	111088053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaaccttaagagttgccGttctgaacgtgtcttaactg	8	8	2	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:111088053G>A	ENST00000356742.5	-	6	1429	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	HVCN1_ENST00000242607.8_Missense_Mutation_p.R226W|HVCN1_ENST00000439744.2_Missense_Mutation_p.R206W|HVCN1_ENST00000548312.1_Missense_Mutation_p.R226W			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	226					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AAGAGTTGCCGTTCTGAACGT	0.398													False	0	False	12:111088053	0	A	111088053	G	A	111088053	3	1	128	1	0	0	0	0	1	0	0	0	7512	1144	40	1	153	1	HVCN1	12	111088053	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	58093180	111088053	22763842	51	32645											
RNF17	56163	broad.mit.edu	37	chr13	25435469	25435469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctttaccctattttgCtgtatcctgatataccccag	5	13	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr13:25435469C>T	ENST00000255324.5	+	27	3890	c.3838C>T	c.(3838-3840)Ctg>Ttg	p.L1280L	RNF17_ENST00000339524.3_Silent_p.L332L|RNF17_ENST00000381921.1_Silent_p.L1280L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1280	Tudor 3.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCCTATTTTGCTGTATCCTGA	0.318													False	0	False	13:25435469	0	T	25435469	C	T	25435469	2	4	128	1	0	0	0	0	0	0	0	1	13540	796	28	2		2	RNF17	13	25435469	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		25435469	89734409	52	32646											
ZIC5	85416	broad.mit.edu	37	chr13	100617645	100617645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaattctaatgtatcgtccGcacaacttcagggttcccgt	7	11	2	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr13:100617645G>A	ENST00000267294.4	-	2	2211	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	660					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTATCGTCCGCACAACTTCA	0.483													False	0	False	13:100617645	0	A	100617645	G	A	100617645	3	1	128	1	0	0	0	0	1	0	0	0	17765	1086	38	1	17	1	ZIC5	13	100617645	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	75182176	100617645	14552233	53	32647											
COL4A1	1282	broad.mit.edu	37	chr13	110822921	110822921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggctggccctgaggtcCgcggtctcctttgggcccct	14	16	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr13:110822921C>T	ENST00000375820.4	-	42	3836	c.3715G>A	c.(3715-3717)Gga>Aga	p.G1239R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1239	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCTGAGGTCCGCGGTCTCCT	0.627													False	0	False	13:110822921	0	T	110822921	C	T	110822921	3	4	128	1	0	0	0	0	1	0	0	0	3712	661	23	1	1338	1	COL4A1	13	110822921	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	10205276	110822921	4346957	54	32648											
MYH6	4624	broad.mit.edu	37	chr14	23866789	23866789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctggaaggatgagcccTttttcttgcctcctttgctt	9	12	2	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:23866789T>C	ENST00000405093.3	-	16	1995	c.1925A>G	c.(1924-1926)aAg>aGg	p.K642R	MYH6_ENST00000356287.3_Missense_Mutation_p.K642R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	642	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGATGAGCCCTTTTTCTTGCC	0.557													False	0	True	14:23866789	0	C	23866789	T	C	23866789	3	2	128	1	0	0	0	0	1	0	0	0	10105	1609	56	4	3990	4	MYH6	14	23866789	Missense_Mutation	SNP	T	TCGA-RB-AA9M-01A-11D-A397-08		23866789	83482751	55	32649											
ADCY4	196883	broad.mit.edu	37	chr14	24788372	24788372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttagaccccagggccacgGcaaattccaccatagtgcca	9	15	0	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:24788372G>A	ENST00000310677.4	-	24	3001	c.2888C>T	c.(2887-2889)gCc>gTc	p.A963V	ADCY4_ENST00000418030.2_Missense_Mutation_p.A963V|ADCY4_ENST00000554068.2_Missense_Mutation_p.A963V	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	963					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGGGCCACGGCAAATTCCAC	0.592													False	0	False	14:24788372	0	A	24788372	G	A	24788372	3	1	128	1	0	0	0	0	1	0	0	0	296	1203	42	2	357	2	ADCY4	14	24788372	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	921583	24788372	82561168	56	32650											
PLEKHG3	26030	broad.mit.edu	37	chr14	65197580	65197580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaagttctttcgggaccgGcaggagctgctacagcactc	12	13	1	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:65197580G>A	ENST00000247226.7	+	4	770	c.462G>A	c.(460-462)cgG>cgA	p.R154R	PLEKHG3_ENST00000394691.1_Silent_p.R210R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	210	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TTCGGGACCGGCAGGAGCTGC	0.642													False	0	False	14:65197580	0	A	65197580	G	A	65197580	2	1	128	1	0	0	0	0	0	0	0	1	12139	1190	42	2		2	PLEKHG3	14	65197580	Silent	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	40409208	65197580	42151960	57	32651											
AQR	9716	broad.mit.edu	37	chr15	35202432	35202432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctatgttgggtttggCcacttcaacgacagtgaaag	10	9	2	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:35202432C>T	ENST00000156471.5	-	17	1792	c.1567G>A	c.(1567-1569)Gcc>Acc	p.A523T		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	523						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTGGGTTTGGCCACTTCAACG	0.473													False	0	False	15:35202432	0	T	35202432	C	T	35202432	3	4	128	1	0	0	0	0	1	0	0	0	837	739	26	2	2966	2	AQR	15	35202432	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		35202432	67328960	58	32652											
INO80	54617	broad.mit.edu	37	chr15	41341604	41341604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgccgttcaaataactcCgggtgattacacacctaaaa	6	11	2	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:41341604C>T	ENST00000361937.3	-	21	2881	c.2457G>A	c.(2455-2457)ccG>ccA	p.P819P	INO80_ENST00000401393.3_Silent_p.P819P			Q9ULG1	INO80_HUMAN	INO80 complex subunit	819	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAAATAACTCCGGGTGATTAC	0.408													False	0	True	15:41341604	0	T	41341604	C	T	41341604	2	4	128	1	0	0	0	0	0	0	0	1	7796	639	23	1		1	INO80	15	41341604	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	6139172	41341604	61189788	59	32653											
SEMA6D	80031	broad.mit.edu	37	chr15	48056428	48056428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacattgaaaaagtattcaaAggacggtttaaggaacagaa	10	4	1	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:48056428A>G	ENST00000316364.5	+	11	1462	c.1023A>G	c.(1021-1023)aaA>aaG	p.K341K	SEMA6D_ENST00000389425.3_Silent_p.K341K|SEMA6D_ENST00000558014.1_Silent_p.K341K|SEMA6D_ENST00000558816.1_Silent_p.K341K|SEMA6D_ENST00000389432.2_Silent_p.K341K|SEMA6D_ENST00000537942.1_Silent_p.K341K|SEMA6D_ENST00000389433.2_Silent_p.K341K|SEMA6D_ENST00000354744.4_Silent_p.K341K|SEMA6D_ENST00000536845.2_Silent_p.K341K|SEMA6D_ENST00000355997.3_Silent_p.K341K|SEMA6D_ENST00000389428.3_Silent_p.K341K|SEMA6D_ENST00000358066.4_Silent_p.K341K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	341	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAGTATTCAAAGGACGGTTTA	0.413													False	0	True	15:48056428	0	G	48056428	A	G	48056428	2	3	128	1	0	0	0	0	0	0	0	1	14123	69	3	4		4	SEMA6D	15	48056428	Silent	SNP	A	TCGA-RB-AA9M-01A-11D-A397-08	6714824	48056428	54474964	60	32654											
SLC12A1	6557	broad.mit.edu	37	chr15	48539196	48539196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcctcccttgtcagcGcacccaaagtgttccaggta	9	16	1	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:48539196G>A	ENST00000396577.3	+	12	1758	c.1543G>A	c.(1543-1545)Gca>Aca	p.A515T	SLC12A1_ENST00000558405.1_Missense_Mutation_p.A515T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A515T	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	515					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCTTGTCAGCGCACCCAAAGT	0.498													False	0	False	15:48539196	0	A	48539196	G	A	48539196	3	1	128	1	0	0	0	0	1	0	0	0	14463	1087	38	1	1685	1	SLC12A1	15	48539196	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	482768	48539196	53992196	61	32655											
POLG	5428	broad.mit.edu	37	chr15	89864367	89864367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcaccatgcatgccgGcaaagtgggcgtctccaagc	11	15	2	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:89864367G>A	ENST00000268124.5	-	17	3056	c.2723C>T	c.(2722-2724)gCc>gTc	p.A908V	POLG_ENST00000442287.2_Missense_Mutation_p.A908V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	908					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ATGCATGCCGGCAAAGTGGGC	0.582								DNA polymerases (catalytic subunits)					False	0	False	15:89864367	0	A	89864367	G	A	89864367	3	1	128	1	0	0	0	0	1	0	0	0	12269	1203	42	2	1024	2	POLG	15	89864367	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	41325171	89864367	12667025	62	32656											
KIAA0556	23247	broad.mit.edu	37	chr16	27761391	27761391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaccaacctcatcgacgGggtgaacaggacccaggatg	13	12	2	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr16:27761391G>T	ENST00000261588.4	+	16	3129	c.3110G>T	c.(3109-3111)gGg>gTg	p.G1037V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1037										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTCATCGACGGGGTGAACAGG	0.552													False	0	True	16:27761391	0	T	27761391	G	T	27761391	3	4	128	1	0	0	0	0	1	0	0	0	8233	1232	43	3	3172	3	KIAA0556	16	27761391	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08		27761391	62593362	63	32657											
TP53	7157	broad.mit.edu	37	chr17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttcttgcggagattctcttCctctgtgcgccggtctctcc	9	14	4	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr17:7577082C>A	ENST00000420246.2	-	8	988	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATTCTCTTCCTCTGTGCGC	0.557		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)			False	0	False	17:7577082	0	A	7577082	C	A	7577082	4	1	128	1	0	0	0	0	0	1	0	0	16464	864	30	3	430	3	TP53	17	7577082	Nonsense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		7577082	73618128	64	32658											
EXOC7	23265	broad.mit.edu	37	chr17	74097340	74097340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcttctcacgttattctgCggaccccttaccactttgtt	6	13	2	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr17:74097340C>T	ENST00000406660.3	-	4	470	c.429G>A	c.(427-429)ccG>ccA	p.P143P	EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000589210.1_Intron|EXOC7_ENST00000607838.1_Intron|EXOC7_ENST00000335146.7_Intron|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000467929.2_Intron|EXOC7_ENST00000405575.4_Intron	NM_001282314.1	NP_001269243.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	0					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CGTTATTCTGCGGACCCCTTA	0.512													False	0	False	17:74097340	0	T	74097340	C	T	74097340	2	4	128	1	0	0	0	0	0	0	0	1	5342	783	27	1		1	EXOC7	17	74097340	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	66520258	74097340	7097870	65	32659											
TNRC6C	57690	broad.mit.edu	37	chr17	76083021	76083023	+	In_Frame_Del	DEL	CCG	CCG	-													tgctcgtgaagcagccaccaCcgccaccgcccccgccgcac					rs34543719		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	CCG	CCG	-	-	CCG	CCG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr17:76083021_76083023delCCG	ENST00000588847.1	+	15	4367_4369	c.3640_3642delCCG	c.(3640-3642)ccgdel	p.P1219del	TNRC6C_ENST00000588061.1_In_Frame_Del_p.P1222del|TNRC6C_ENST00000335749.4_In_Frame_Del_p.P1219del|TNRC6C_ENST00000541771.1_In_Frame_Del_p.P1222del|TNRC6C_ENST00000301624.4_In_Frame_Del_p.P1222del|TNRC6C_ENST00000544502.1_In_Frame_Del_p.P1219del			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1222	Pro-rich.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCAGCCACCACCGCCACCGCCCC	0.67													False	1	True	17:76083021	0	-	76083023	CCG	-	76083021	7	5	128	1	0	1	0	1	0	0	0	0	16424	507	18	0	3691	0	TNRC6C	17	76083021	In_Frame_Del	DEL	CCG	TCGA-RB-AA9M-01A-11D-A397-08	1985681	76083021	5112189	66	32660											
ANKRD30B	374860	broad.mit.edu	37	chr18	14787073	14787073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagaatccaaacaaaaggacGatgaagaaaattcttgggat	9	6	1	3			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr18:14787073G>T	ENST00000358984.4	+	15	1888	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	570										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACAAAAGGACGATGAAGAAAA	0.289													False	0	False	18:14787073	0	T	14787073	G	T	14787073	3	4	128	1	0	0	0	0	1	0	0	0	659	1058	37	3	1766	3	ANKRD30B	18	14787073	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08		14787073	63290175	67	32661											
PLIN4	729359	broad.mit.edu	37	chr19	4513137	4513137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttcctttggccacattcaTggcaccagtcaccccactac	7	16	2	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr19:4513137T>C	ENST00000301286.3	-	3	792	c.793A>G	c.(793-795)Atg>Gtg	p.M265V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	265	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCCACATTCATGGCACCAGTC	0.547													False	0	False	19:4513137	0	C	4513137	T	C	4513137	3	2	128	1	0	0	0	0	1	0	0	0	12161	1464	51	4	3296	4	PLIN4	19	4513137	Missense_Mutation	SNP	T	TCGA-RB-AA9M-01A-11D-A397-08		4513137	54615846	68	32662											
ZNF773	374928	broad.mit.edu	37	chr19	58017973	58017973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaccaggtgactcacacGggagagaagtcacataggag	13	9	2	2	rs149516480		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr19:58017973G>A	ENST00000282292.4	+	4	650	c.510G>A	c.(508-510)acG>acA	p.T170T	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Silent_p.T169T	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TGACTCACACGGGAGAGAAGT	0.488													False	0	True	19:58017973	0	A	58017973	G	A	58017973	2	1	128	1	0	0	0	0	0	0	0	1	18228	1103	39	1		1	ZNF773	19	58017973	Silent	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	53504836	58017973	1111010	69	32663											
BFSP1	631	broad.mit.edu	37	chr20	17474942	17474942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccatcctgatcagccGcaggctttggaggctcaggt	12	13	2	1	rs145703098	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr20:17474942G>A	ENST00000377873.3	-	8	1814	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V	BFSP1_ENST00000544874.1_Missense_Mutation_p.A453V|BFSP1_ENST00000536626.1_Missense_Mutation_p.A453V|BFSP1_ENST00000377868.2_Missense_Mutation_p.A467V	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	592	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTGATCAGCCGCAGGCTTTGG	0.577													False	0	False	20:17474942	0	A	17474942	G	A	17474942	3	1	128	1	0	0	0	0	1	0	0	0	1420	1087	38	1	226	1	BFSP1	20	17474942	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08		17474942	45550578	70	32664											
ZNF831	128611	broad.mit.edu	37	chr20	57767447	57767447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccactttgacatccgcgCgctggagccaggccgtagga	12	14	0	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr20:57767447C>T	ENST00000371030.2	+	1	1373	c.1373C>T	c.(1372-1374)gCg>gTg	p.A458V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	458						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACATCCGCGCGCTGGAGCCA	0.677													False	0	True	20:57767447	0	T	57767447	C	T	57767447	3	4	128	1	0	0	0	0	1	0	0	0	18267	768	27	1	1375	1	ZNF831	20	57767447	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	40292505	57767447	5258073	71	32665											
PCNT	5116	broad.mit.edu	37	chr21	47856946	47856946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgatgtctttactgcaCacgttggaggagctgaagtc	13	8	1	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr21:47856946C>T	ENST00000359568.5	+	40	9158	c.9051C>T	c.(9049-9051)caC>caT	p.H3017H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3017	Interaction with NEK2.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTTTACTGCACACGTTGGAGG	0.557													False	0	False	21:47856946	0	T	47856946	C	T	47856946	2	4	128	1	0	0	0	0	0	0	0	1	11658	477	17	2		2	PCNT	21	47856946	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		47856946	272949	72	32666											
ZNF70	7621	broad.mit.edu	37	chr22	24087156	24087156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgtaatcatcattttcttCgtcctgctcaccaagaggga	7	12	4	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr22:24087156C>T	ENST00000341976.3	-	2	632	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	58						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TCATTTTCTTCGTCCTGCTCA	0.507													False	0	False	22:24087156	0	T	24087156	C	T	24087156	3	4	128	1	0	0	0	0	1	0	0	0	18186	893	31	1	1172	1	ZNF70	22	24087156	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		24087156	27217410	73	32667											
SAGE1	55511	broad.mit.edu	37	chrX	134993945	134993945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgatagtaatgaatttgCggtaggcaccaaaaactaca	8	8	0	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chrX:134993945C>T	ENST00000535938.1	+	18	2521	c.2354C>T	c.(2353-2355)gCg>gTg	p.A785V	SAGE1_ENST00000537770.1_Missense_Mutation_p.A409V|SAGE1_ENST00000324447.3_Missense_Mutation_p.A785V|SAGE1_ENST00000370709.3_Missense_Mutation_p.A785V	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	785										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AATGAATTTGCGGTAGGCACC	0.443													False	0	False	X:134993945	0	T	134993945	C	T	134993945	3	4	128	1	0	0	0	0	1	0	0	0	13888	768	27	1	2420	1	SAGE1	23	134993945	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		134993945	20276615	74	32668											
HCRTR1	3061	broad.mit.edu	37	chr1	32087188	32087188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattccgcaagctctggggcCgccaggtgaggcccactctg	13	14	2	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:32087188C>T	ENST00000403528.2	+	6	1118	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	HCRTR1_ENST00000373705.1_Missense_Mutation_p.R245C|HCRTR1_ENST00000373706.5_Missense_Mutation_p.R245C|HCRTR1_ENST00000468521.1_3'UTR	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	245					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GCTCTGGGGCCGCCAGGTGAG	0.597													False	0	False	1:32087188	0	T	32087188	C	T	32087188	3	4	129	1	0	0	0	0	1	0	0	0	7048	652	23	1	747	1	HCRTR1	1	32087188	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08		32087188	217163433	1	32669											
BARHL2	343472	broad.mit.edu	37	chr1	91180182	91180182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgctcaggtacttctgccGctcaaagctacgctccagtt	8	15	3	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:91180182G>A	ENST00000370445.4	-	2	798	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	253						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TACTTCTGCCGCTCAAAGCTA	0.567													False	0	False	1:91180182	0	A	91180182	G	A	91180182	3	1	129	1	0	0	0	0	1	0	0	0	1318	1086	38	1	414	1	BARHL2	1	91180182	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	59092994	91180182	158070439	2	32670											
SMG7	9887	broad.mit.edu	37	chr1	183515464	183515464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatcctgtacccagaatgCcgtttgaggtgtgtgttctt	12	8	1	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:183515464C>T	ENST00000367537.3	+	18	2878	c.2683C>T	c.(2683-2685)Ccg>Tcg	p.P895S	SMG7_ENST00000507469.1_Missense_Mutation_p.P866S|SMG7_ENST00000456731.2_Missense_Mutation_p.P824S|SMG7_ENST00000515829.2_Missense_Mutation_p.P866S|SMG7_ENST00000347615.2_Missense_Mutation_p.P912S|SMG7_ENST00000508461.1_Missense_Mutation_p.P870S			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	912					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACCCAGAATGCCGTTTGAGGT	0.458													False	0	False	1:183515464	0	T	183515464	C	T	183515464	3	4	129	1	0	0	0	0	1	0	0	0	14878	739	26	2	2800	2	SMG7	1	183515464	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	92335282	183515464	65735157	3	32671											
PIK3C2B	5287	broad.mit.edu	37	chr1	204438176	204438176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccttccagcccctggtgGcatcccgcaacatctccgca	7	20	1	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:204438176G>A	ENST00000367187.3	-	3	1311	c.755C>T	c.(754-756)gCc>gTc	p.A252V	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A252V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	252	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCCCCTGGTGGCATCCCGCAA	0.577													False	0	False	1:204438176	0	A	204438176	G	A	204438176	3	1	129	1	0	0	0	0	1	0	0	0	11979	1203	42	2	4277	2	PIK3C2B	1	204438176	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	20922712	204438176	44812445	4	32672											
OBSCN	84033	broad.mit.edu	37	chr1	228506686	228506686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactgtgggaggccctggctCggaaacgtcgcatgagccgt	15	11	0	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:228506686C>T	ENST00000570156.2	+	65	17178	c.17104C>T	c.(17104-17106)Cgg>Tgg	p.R5702W	OBSCN_ENST00000366709.4_Missense_Mutation_p.R1864W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4745W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2379W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4745W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4745	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCCTGGCTCGGAAACGTCG	0.687													False	0	False	1:228506686	0	T	228506686	C	T	228506686	3	4	129	1	0	0	0	0	1	0	0	0	10880	875	31	1	14443	1	OBSCN	1	228506686	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	24068510	228506686	20743935	5	32673											
OR2AK2	391191	broad.mit.edu	37	chr1	248129097	248129097	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tatgcttatgagcaagaagaTctgctgcctcatggttgcat	10	8	2	3			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr1:248129097T>G	ENST00000366480.3	+	1	563	c.464T>G	c.(463-465)aTc>aGc	p.I155S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGCAAGAAGATCTGCTGCCTC	0.438													False	0	False	1:248129097	0	G	248129097	T	G	248129097	3	3	129	1	0	0	0	0	1	0	0	0	11054	1435	50	4	466	4	OR2AK2	1	248129097	Missense_Mutation	SNP	T	TCGA-S4-A8RM-01A-11D-A377-08	19622411	248129097	1121524	6	32674											
NRXN1	9378	broad.mit.edu	37	chr2	51254893	51254893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggctcccgctccctcacCgaggccagggtgagcttgag	14	14	1	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:51254893C>T	ENST00000404971.1	-	2	1858	c.519G>A	c.(517-519)tcG>tcA	p.S173S	NRXN1_ENST00000406859.3_Silent_p.S173S|NRXN1_ENST00000405472.3_Silent_p.S173S|NRXN1_ENST00000401669.2_Silent_p.S173S|NRXN1_ENST00000405581.1_Silent_p.S173S|NRXN1_ENST00000402717.3_Silent_p.S173S|NRXN1_ENST00000406316.2_Silent_p.S173S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	173	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTCCCTCACCGAGGCCAGGG	0.672													False	0	False	2:51254893	0	T	51254893	C	T	51254893	2	4	129	1	0	0	0	0	0	0	0	1	10733	639	23	1		1	NRXN1	2	51254893	Silent	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08		51254893	191944480	7	32675											
ANKRD53	79998	broad.mit.edu	37	chr2	71211256	71211256	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgctttctctttccagggtCaaggatgcagtgtgcacttc	10	11	2	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:71211256C>T	ENST00000272421.6	+	6	1173	c.907C>T	c.(907-909)Caa>Taa	p.Q303*	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000441349.1_Nonsense_Mutation_p.Q214*|ANKRD53_ENST00000360589.3_Intron|ANKRD53_ENST00000457410.1_Intron	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	0										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						TTTCCAGGGTCAAGGATGCAG	0.502													False	0	False	2:71211256	0	T	71211256	C	T	71211256	4	4	129	1	0	0	0	0	0	1	0	0	679	827	29	2	929	2	ANKRD53	2	71211256	Nonsense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	19956363	71211256	171988117	8	32676											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	129	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-S4-A8RM-01A-11D-A377-08	26636109	97847365	145352008	9	32677											
INPP4A	3631	broad.mit.edu	37	chr2	99163080	99163080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatcgtcaccattggggcGccagcagcacactgccaagg	12	14	1	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:99163080G>A	ENST00000409016.4	+	13	1483	c.1086G>A	c.(1084-1086)gcG>gcA	p.A362A	INPP4A_ENST00000074304.5_Silent_p.A362A|INPP4A_ENST00000523221.1_Silent_p.A362A|INPP4A_ENST00000409540.3_Silent_p.A362A|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Silent_p.A362A|INPP4A_ENST00000409851.3_Silent_p.A362A			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCATTGGGGCGCCAGCAGCAC	0.493													False	0	False	2:99163080	0	A	99163080	G	A	99163080	2	1	129	1	0	0	0	0	0	0	0	1	7802	1074	38	1		1	INPP4A	2	99163080	Silent	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	1315715	99163080	144036293	10	32678											
IL1RL1	9173	broad.mit.edu	37	chr2	102957161	102957161	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggatcaaggtacagggcGcacaagtcatttttggtcat	11	8	3	0	rs142878092		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:102957161G>A	ENST00000311734.2	+	5	822	c.483G>A	c.(481-483)gcG>gcA	p.A161A	IL1RL1_ENST00000409584.1_Silent_p.A161A|IL1RL1_ENST00000393393.3_Silent_p.A161A|IL1RL1_ENST00000404917.2_Silent_p.A44A|IL1RL1_ENST00000233954.1_Silent_p.A161A	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	161	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GGTACAGGGCGCACAAGTCAT	0.358													False	0	False	2:102957161	0	A	102957161	G	A	102957161	2	1	129	1	0	0	0	0	0	0	0	1	7713	1074	38	1		1	IL1RL1	2	102957161	Silent	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	3794081	102957161	140242212	11	32679											
LRP1B	53353	broad.mit.edu	37	chr2	141571360	141571360	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aataaagcttgttttccacaTagtctatcgatagacctgta	6	8	1	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:141571360T>C	ENST00000389484.3	-	32	6196	c.5225A>G	c.(5224-5226)tAt>tGt	p.Y1742C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1742					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTTTCCACATAGTCTATCGA	0.348										TSP Lung(27;0.18)			False	0	False	2:141571360	0	C	141571360	T	C	141571360	3	2	129	1	0	0	0	0	1	0	0	0	9017	1406	49	4	8814	4	LRP1B	2	141571360	Missense_Mutation	SNP	T	TCGA-S4-A8RM-01A-11D-A377-08	38614199	141571360	101628013	12	32680											
SCN9A	6335	broad.mit.edu	37	chr2	167133600	167133600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccactctccacacagcaCgcggaacacaatcaggaagg	8	14	2	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:167133600C>T	ENST00000375387.4	-	16	3110	c.2770G>A	c.(2770-2772)Gtg>Atg	p.V924M	SCN9A_ENST00000409435.1_Missense_Mutation_p.V923M|SCN9A_ENST00000409672.1_Missense_Mutation_p.V912M|SCN9A_ENST00000303354.6_Missense_Mutation_p.V924M|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	923						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCACACAGCACGCGGAACACA	0.478													False	0	False	2:167133600	0	T	167133600	C	T	167133600	3	4	129	1	0	0	0	0	1	0	0	0	14006	536	19	1	3247	1	SCN9A	2	167133600	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	25562240	167133600	76065773	13	32681											
COL5A2	1290	broad.mit.edu	37	chr2	189904090	189904090	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgcatggtttcaatcTgactactgagtgacttcagg	12	9	3	3			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:189904090T>G	ENST00000374866.3	-	51	4107	c.3833A>C	c.(3832-3834)cAg>cCg	p.Q1278P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1278	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTTTCAATCTGACTACTGAG	0.522													False	0	False	2:189904090	0	G	189904090	T	G	189904090	3	3	129	1	0	0	0	0	1	0	0	0	3720	1580	55	4	682	4	COL5A2	2	189904090	Missense_Mutation	SNP	T	TCGA-S4-A8RM-01A-11D-A377-08	22770490	189904090	53295283	14	32682											
CRYGD	1421	broad.mit.edu	37	chr2	208988981	208988981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagccgctgtccacgcgcGccgagttgcagcggctcaag	14	15	1	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:208988981G>A	ENST00000264376.4	-	2	134	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	36	Beta/gamma crystallin 'Greek key' 1.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTCCACGCGCGCCGAGTTGCA	0.652													False	0	True	2:208988981	0	A	208988981	G	A	208988981	3	1	129	1	0	0	0	0	1	0	0	0	3940	1087	38	1	425	1	CRYGD	2	208988981	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	19084891	208988981	34210392	15	32683											
HDAC4	9759	broad.mit.edu	37	chr2	239975284	239975284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggttgtgcgctgcaggcaGcgccagtacttgcctggggt	17	10	0	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr2:239975284G>A	ENST00000345617.3	-	26	3878	c.3087C>T	c.(3085-3087)cgC>cgT	p.R1029R	HDAC4_ENST00000543185.1_Silent_p.R613R	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1029	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCTGCAGGCAGCGCCAGTACT	0.627													False	0	True	2:239975284	0	A	239975284	G	A	239975284	2	1	129	1	0	0	0	0	0	0	0	1	7056	958	34	2		2	HDAC4	2	239975284	Silent	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	30986303	239975284	3224089	16	32684											
SEMA3F	6405	broad.mit.edu	37	chr3	50222213	50222214	+	In_Frame_Ins	INS	-	-	GACGGGCGT													tggaccaggtggatgcagccINSgacgggcgctatgaggtgct							TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr3:50222213_50222214insGACGGGCGT	ENST00000002829.3	+	13	1906_1907	c.1422_1423insGACGGGCGT	c.(1423-1425)gac>GACGGGCGTgac	p.475_475D>DGRD	SEMA3F_ENST00000413852.1_In_Frame_Ins_p.376_376D>DGRD|SEMA3F_ENST00000434342.1_In_Frame_Ins_p.444_444D>DGRD	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	475	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TGGATGCAGCCGACGGGCGCTA	0.673													False	0	False	3:50222213	0	GACGGGCGT	50222214	-	GACGGGCGT	50222213	7	5	129	1	0	1	1	0	0	0	0	0	14110	639	23	0	1468	0	SEMA3F	3	50222213	In_Frame_Ins	INS	-	TCGA-S4-A8RM-01A-11D-A377-08		50222213	147800217	17	32685											
CD86	942	broad.mit.edu	37	chr3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattccaagtatatgggccGcacaagttttgattcggaca	9	9	1	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000493101.1_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	85	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TATATGGGCCGCACAAGTTTT	0.423													False	0	False	3:121822548	0	A	121822548	G	A	121822548	3	1	129	1	0	0	0	0	1	0	0	0	3066	1087	38	1	264	1	CD86	3	121822548	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	71600335	121822548	76199882	18	32686											
A4GNT	51146	broad.mit.edu	37	chr3	137849766	137849767	+	Frame_Shift_Ins	INS	-	-	A													ggaagaggaaaacgttgtctINSattgctgacaggaaggaaaa							TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr3:137849766_137849767insA	ENST00000236709.3	-	2	533_534	c.332_333insT	c.(331-333)atafs	p.I111fs		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	111					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AAACGTTGTCTATTGCTGACAG	0.421													False	1	False	3:137849766	0	A	137849767	-	A	137849766	7	5	129	1	0	1	1	0	0	0	0	0	7	1512	53	0	697	0	A4GNT	3	137849766	Frame_Shift_Ins	INS	-	TCGA-S4-A8RM-01A-11D-A377-08	16027218	137849766	60172664	19	32687											
SIAH2	6478	broad.mit.edu	37	chr3	150460176	150460176	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gacgatggcaaaaaactgctGgtggccttcgtacttctctt	10	10	1	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr3:150460176G>C	ENST00000312960.3	-	2	1254	c.727C>G	c.(727-729)Cag>Gag	p.Q243E		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	243	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AAAAACTGCTGGTGGCCTTCG	0.527													False	0	False	3:150460176	0	C	150460176	G	C	150460176	3	2	129	1	0	0	0	0	1	0	0	0	14381	1357	47	5	251	5	SIAH2	3	150460176	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	12610410	150460176	47562254	20	32688											
LMLN	89782	broad.mit.edu	37	chr3	197687308	197687309	+	Frame_Shift_Del	DEL	TG	TG	-													caccacgtcccctctgacacTgaggtagggcgacatgggcg							TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr3:197687308_197687309delTG	ENST00000330198.4	+	1	238_239	c.216_217delTG	c.(214-219)actgagfs	p.E73fs	LMLN_ENST00000420910.2_Frame_Shift_Del_p.E73fs|LMLN_ENST00000482695.1_Intron|LMLN_ENST00000332636.5_Intron	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	73					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CCTCTGACACTGAGGTAGGGCG	0.639													False	1	False	3:197687308	0	-	197687309	TG	-	197687308	7	5	129	1	0	1	0	1	0	0	0	0	8900	1567	55	0	218	0	LMLN	3	197687308	Frame_Shift_Del	DEL	TG	TCGA-S4-A8RM-01A-11D-A377-08	47227132	197687308	335122	21	32689											
ZFR	51663	broad.mit.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	13	13	0	0	rs139769264		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483													False	0	True	5:32407029	0	T	32407029	A	T	32407029	2	4	129	1	0	0	0	0	0	0	0	1	17742	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-S4-A8RM-01A-11D-A377-08		32407029	148508231	22	32690											
ITGA2	3673	broad.mit.edu	37	chr5	52360796	52360796	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccgagggcattgaaaacactCgatttggttcagcaattgca	10	9	1	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr5:52360796C>A	ENST00000296585.5	+	14	1800	c.1657C>A	c.(1657-1659)Cga>Aga	p.R553R		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	553					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAAAACACTCGATTTGGTTC	0.423													False	0	False	5:52360796	0	A	52360796	C	A	52360796	2	1	129	1	0	0	0	0	0	0	0	1	7925	876	31	3		3	ITGA2	5	52360796	Silent	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	19953767	52360796	128554464	23	32691											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	129	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-S4-A8RM-01A-11D-A377-08	26249648	78610444	102304816	24	32692											
PCDHB7	0	broad.mit.edu	37	chr5	140553506	140553506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaactcacccgagacaGtcgtggctgtttttaggatt	10	9	1	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr5:140553506G>A	ENST00000231137.3	+	1	1264	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		364	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCGAGACAGTCGTGGCTGT	0.473													False	0	False	5:140553506	0	A	140553506	G	A	140553506	3	1	129	1	0	0	0	0	1	0	0	0	11615	1029	36	2	1092	2	PCDHB7	5	140553506	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	61943062	140553506	40361754	25	32693											
FAM153B	202134	broad.mit.edu	37	chr5	175528575	175528575	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggagggggacccagacacaCtggccgaacgtacgtattct	13	11	1	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr5:175528575C>G	ENST00000253490.4	+	12	712	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V	FAM153B_ENST00000515817.1_Missense_Mutation_p.L142V|FAM153B_ENST00000510151.1_Missense_Mutation_p.L142V|FAM153B_ENST00000512862.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	219										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CCCAGACACACTGGCCGAACG	0.453													False	0	True	5:175528575	0	G	175528575	C	G	175528575	3	3	129	1	0	0	0	0	1	0	0	0	5497	564	20	5	701	5	FAM153B	5	175528575	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	34975069	175528575	5386685	26	32694											
MAK	4117	broad.mit.edu	37	chr6	10802169	10802169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatcccaattcaacatttCggtcatgagctgaatagctt	8	9	2	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:10802169C>T	ENST00000313243.2	-	8	1169	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	MAK_ENST00000536370.1_Missense_Mutation_p.E263K|MAK_ENST00000354489.2_Missense_Mutation_p.E263K|MAK_ENST00000538030.1_Missense_Mutation_p.E263K|MAK_ENST00000474039.1_Missense_Mutation_p.E263K|RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	263	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTCAACATTTCGGTCATGAGC	0.408											OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	6:10802169	0	T	10802169	C	T	10802169	3	4	129	1	0	0	0	0	1	0	0	0	9264	893	31	1	1112	1	MAK	6	10802169	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08		10802169	160312898	27	32695											
SLC17A3	10786	broad.mit.edu	37	chr6	25845701	25845701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtcctaacaggttaacgGcaaacagcaagaagaagaca	10	8	0	3			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:25845701G>A	ENST00000397060.4	-	12	1515	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	SLC17A3_ENST00000360657.3_Missense_Mutation_p.A391V|SLC17A3_ENST00000361703.6_Missense_Mutation_p.A391V	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	391					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CAGGTTAACGGCAAACAGCAA	0.413													False	0	False	6:25845701	0	A	25845701	G	A	25845701	3	1	129	1	0	0	0	0	1	0	0	0	14499	1203	42	2	94	2	SLC17A3	6	25845701	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	15043532	25845701	145269366	28	32696											
HIST1H2BL	8340	broad.mit.edu	37	chr6	27775524	27775524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccttagaagagatgCcggtgtcggggtggacctgc	16	10	0	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:27775524C>T	ENST00000377401.2	-	1	185	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	54					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AGAAGAGATGCCGGTGTCGGG	0.582													False	0	False	6:27775524	0	T	27775524	C	T	27775524	3	4	129	1	0	0	0	0	1	0	0	0	7198	739	26	2	223	2	HIST1H2BL	6	27775524	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	1929823	27775524	143339543	29	32697											
SLC44A4	80736	broad.mit.edu	37	chr6	31832445	31832445	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggaagcagaggaagagCgtgtccacacacatgccgaa	12	11	1	2	rs146889731		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:31832445C>T	ENST00000544672.1	-	20	2063	c.1767G>A	c.(1765-1767)acG>acA	p.T589T	SLC44A4_ENST00000375562.4_Silent_p.T623T|SLC44A4_ENST00000229729.6_Silent_p.T665T	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	665						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AGAGGAAGAGCGTGTCCACAC	0.522													False	0	False	6:31832445	0	T	31832445	C	T	31832445	2	4	129	1	0	0	0	0	0	0	0	1	14718	755	27	1		1	SLC44A4	6	31832445	Silent	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	4056921	31832445	139282622	30	32698											
CYP21A2	1589	broad.mit.edu	37	chr6	32008351	32008351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgccccaccgcaccacaCggcccagcaggtgactcccg	9	21	0	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:32008351C>T	ENST00000418967.2	+	8	1266	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	CYP21A2_ENST00000435122.2_Missense_Mutation_p.R340W	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	369					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CCGCACCACACGGCCCAGCAG	0.667													False	0	False	6:32008351	0	T	32008351	C	T	32008351	3	4	129	1	0	0	0	0	1	0	0	0	4178	527	19	1	2659	1	CYP21A2	6	32008351	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	175906	32008351	139106716	31	32699											
SLC35A1	10559	broad.mit.edu	37	chr6	88216129	88216129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatccattattagggtttggCgctatagctattgctgtatt	9	6	0	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:88216129C>T	ENST00000369552.4	+	5	564	c.537C>T	c.(535-537)ggC>ggT	p.G179G	SLC35A1_ENST00000464978.1_Intron|SLC35A1_ENST00000544441.1_Silent_p.G45G|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369557.5_Intron|SLC35A1_ENST00000369556.3_Silent_p.G179G	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	179					carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TAGGGTTTGGCGCTATAGCTA	0.313													False	0	False	6:88216129	0	T	88216129	C	T	88216129	2	4	129	1	0	0	0	0	0	0	0	1	14650	755	27	1		1	SLC35A1	6	88216129	Silent	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	56207778	88216129	82898938	32	32700											
RPS6KA2	6196	broad.mit.edu	37	chr6	166844030	166844030	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagtatctctgccggaggaTgcggtccaggagctccccac	13	13	1	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr6:166844030T>G	ENST00000510118.1	-	18	1907	c.1567A>C	c.(1567-1569)Atc>Ctc	p.I523L	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.I409L|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.I409L|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.I506L|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.I498L			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	498	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGCCGGAGGATGCGGTCCAGG	0.587													False	0	False	6:166844030	0	G	166844030	T	G	166844030	3	3	129	1	0	0	0	0	1	0	0	0	13730	1464	51	4	733	4	RPS6KA2	6	166844030	Missense_Mutation	SNP	T	TCGA-S4-A8RM-01A-11D-A377-08	78627901	166844030	4271037	33	32701											
HOXA11	3207	broad.mit.edu	37	chr7	27222632	27222632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataggggcagcgctttttgCgggtgcgttggccacctgtg	16	9	0	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:27222632C>T	ENST00000006015.3	-	2	796	c.725G>A	c.(724-726)cGc>cAc	p.R242H		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	242					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GCGCTTTTTGCGGGTGCGTTG	0.582			T	NUP98	CML								False	0	True	7:27222632	0	T	27222632	C	T	27222632	3	4	129	1	0	0	0	0	1	0	0	0	7337	768	27	1	220	1	HOXA11	7	27222632	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08		27222632	131916031	34	32702											
PURB	5814	broad.mit.edu	37	chr7	44924053	44924053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgactcttcgccgccgcCgctgcccccaccacgtcgct	8	22	2	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:44924053C>T	ENST00000395699.2	-	1	907	c.895G>A	c.(895-897)Ggc>Agc	p.G299S		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	299					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						TCGCCGCCGCCGCTGCCCCCA	0.587													False	0	True	7:44924053	0	T	44924053	C	T	44924053	3	4	129	1	0	0	0	0	1	0	0	0	12907	652	23	1	47	1	PURB	7	44924053	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	17701421	44924053	114214610	35	32703											
SEMA3E	9723	broad.mit.edu	37	chr7	83014659	83014659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaaaccagataactttcGcttgtaaagatcgtggggta	10	7	0	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:83014659G>A	ENST00000307792.3	-	16	2293	c.1826C>T	c.(1825-1827)gCg>gTg	p.A609V	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A549V	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	609	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATAACTTTCGCTTGTAAAGA	0.398													False	0	False	7:83014659	0	A	83014659	G	A	83014659	3	1	129	1	0	0	0	0	1	0	0	0	14109	1087	38	1	509	1	SEMA3E	7	83014659	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	38090606	83014659	76124004	36	32704											
CYP3A43	64816	broad.mit.edu	37	chr7	99454485	99454485	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatttctttcaacagatgatCgactcccagaattccaaaga	6	10	2	4			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:99454485C>A	ENST00000354829.2	+	9	931	c.828C>A	c.(826-828)atC>atA	p.I276I	CYP3A43_ENST00000312017.5_Silent_p.I276I|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Silent_p.I136I|CYP3A43_ENST00000417625.1_Silent_p.I166I|CYP3A43_ENST00000444905.1_Silent_p.I23I|CYP3A43_ENST00000222382.5_Silent_p.I276I|CYP3A43_ENST00000415413.1_Silent_p.I65I	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	276			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AACAGATGATCGACTCCCAGA	0.433													False	0	False	7:99454485	0	A	99454485	C	A	99454485	2	1	129	1	0	0	0	0	0	0	0	1	4204	874	31	3		3	CYP3A43	7	99454485	Silent	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	16439826	99454485	59684178	37	32705											
TMEM176A	55365	broad.mit.edu	37	chr7	150498695	150498695	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccccacagcacacccacatCgatgtgcacatccaccagga	7	18	0	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:150498695C>A	ENST00000484928.1	+	2	638	c.57C>A	c.(55-57)atC>atA	p.I19I	TMEM176A_ENST00000004103.3_Silent_p.I19I|TMEM176A_ENST00000461345.1_Intron			Q96HP8	T176A_HUMAN	transmembrane protein 176A	19						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACCCACATCGATGTGCACA	0.657													False	0	False	7:150498695	0	A	150498695	C	A	150498695	2	1	129	1	0	0	0	0	0	0	0	1	16174	874	31	3		3	TMEM176A	7	150498695	Silent	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	51044210	150498695	8639968	38	32706											
PTPRN2	5799	broad.mit.edu	37	chr7	157929382	157929382	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcgtcgtcctgcactcCgtcatctgtaaaagacacca	6	14	3	1	rs144837405		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr7:157929382C>T	ENST00000389413.3	-	8	1241	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R	PTPRN2_ENST00000389416.4_Missense_Mutation_p.G363R|PTPRN2_ENST00000389418.4_Missense_Mutation_p.G380R|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G403R|PTPRN2_ENST00000409483.1_Missense_Mutation_p.G342R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	380						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCCTGCACTCCGTCATCTGTA	0.448													False	0	False	7:157929382	0	T	157929382	C	T	157929382	3	4	129	1	0	0	0	0	1	0	0	0	12887	661	23	1	1973	1	PTPRN2	7	157929382	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	7430687	157929382	1209281	39	32707											
SCARA5	286133	broad.mit.edu	37	chr8	27824044	27824044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcagatgcttgcccgcCgtttgtgacatggacctgga	12	11	0	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr8:27824044C>T	ENST00000354914.3	-	3	613	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	SCARA5_ENST00000524352.1_Missense_Mutation_p.R43Q|SCARA5_ENST00000380385.2_Missense_Mutation_p.R43Q|SCARA5_ENST00000518030.1_Intron|SCARA5_ENST00000301906.4_Intron	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	43					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCTTGCCCGCCGTTTGTGACA	0.522													False	0	False	8:27824044	0	T	27824044	C	T	27824044	3	4	129	1	0	0	0	0	1	0	0	0	13960	652	23	1	1387	1	SCARA5	8	27824044	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08		27824044	118539978	40	32708											
VPS13B	157680	broad.mit.edu	37	chr8	100493941	100493941	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agaccatggcagggcctgttCctacttctccagttagaagc	10	12	1	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr8:100493941C>A	ENST00000395996.1	+	25	3892	c.3781C>A	c.(3781-3783)Cct>Act	p.P1261T	VPS13B_ENST00000357162.2_Missense_Mutation_p.P1261T|VPS13B_ENST00000358544.2_Missense_Mutation_p.P1261T			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1261					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGGCCTGTTCCTACTTCTCC	0.468													False	0	False	8:100493941	0	A	100493941	C	A	100493941	3	1	129	1	0	0	0	0	1	0	0	0	17274	855	30	3	3998	3	VPS13B	8	100493941	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	72669897	100493941	45870081	41	32709											
CSMD3	114788	broad.mit.edu	37	chr8	113277800	113277800	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtccattggctggtataccTgggtctccacaactgattac	9	11	1	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr8:113277800T>A	ENST00000297405.5	-	60	9772	c.9528A>T	c.(9526-9528)ccA>ccT	p.P3176P	CSMD3_ENST00000455883.2_Silent_p.P3007P|CSMD3_ENST00000352409.3_Silent_p.P3106P|CSMD3_ENST00000343508.3_Silent_p.P3136P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3176	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGGTATACCTGGGTCTCCAC	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	True	8:113277800	0	A	113277800	T	A	113277800	2	1	129	1	0	0	0	0	0	0	0	1	3971	1567	55	5		5	CSMD3	8	113277800	Silent	SNP	T	TCGA-S4-A8RM-01A-11D-A377-08	12783859	113277800	33086222	42	32710											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18706844	18706844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgtctttctctcagtcCgtggctgacctgcctattga	8	14	3	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr9:18706844C>T	ENST00000380548.4	+	14	2013	c.1674C>T	c.(1672-1674)tcC>tcT	p.S558S	ADAMTSL1_ENST00000276935.6_Silent_p.S558S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	558	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTCTCAGTCCGTGGCTGACC	0.602													False	0	False	9:18706844	0	T	18706844	C	T	18706844	2	4	129	1	0	0	0	0	0	0	0	1	274	639	23	1		1	ADAMTSL1	9	18706844	Silent	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08		18706844	122506587	43	32711											
NOTCH1	4851	broad.mit.edu	37	chr9	139414008	139414008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattttcctcacagttctggCcggtgaagcctgccgcaaga	10	12	2	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr9:139414008C>T	ENST00000277541.6	-	5	827	c.752G>A	c.(751-753)gGc>gAc	p.G251D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	251	EGF-like 6.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACAGTTCTGGCCGGTGAAGCC	0.622			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			False	0	False	9:139414008	0	T	139414008	C	T	139414008	3	4	129	1	0	0	0	0	1	0	0	0	10615	739	26	2	7035	2	NOTCH1	9	139414008	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	120707164	139414008	1799423	44	32712											
CACNA1B	774	broad.mit.edu	37	chr9	140851258	140851260	+	In_Frame_Del	DEL	GAG	GAG	-													ccgaggaggacaggaatgcaGaggagaagtcccctttggac							TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr9:140851258_140851260delGAG	ENST00000371372.1	+	9	1367_1369	c.1222_1224delGAG	c.(1222-1224)gagdel	p.E409del	CACNA1B_ENST00000371355.4_In_Frame_Del_p.E409del|CACNA1B_ENST00000277551.2_In_Frame_Del_p.E409del|CACNA1B_ENST00000371357.1_In_Frame_Del_p.E409del|CACNA1B_ENST00000371363.1_In_Frame_Del_p.E409del|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	409					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAGGAATGCAGAGGAGAAGTCCC	0.616													False	2	False	9:140851258	0	-	140851260	GAG	-	140851258	7	5	129	1	0	1	0	1	0	0	0	0	2559	943	33	0	1256	0	CACNA1B	9	140851258	In_Frame_Del	DEL	GAG	TCGA-S4-A8RM-01A-11D-A377-08	1437250	140851258	362173	45	32713											
SFMBT2	57713	broad.mit.edu	37	chr10	7218087	7218087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgacttggtcagatgtccGtacgattttgaccacagccc	10	12	1	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr10:7218087G>A	ENST00000361972.4	-	17	1939	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R617W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	617					regulation of transcription, DNA-dependent	nucleus		p.R617G(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCAGATGTCCGTACGATTTTG	0.468													False	0	False	10:7218087	0	A	7218087	G	A	7218087	3	1	129	1	0	0	0	0	1	0	0	0	14239	1144	40	1	855	1	SFMBT2	10	7218087	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08		7218087	128316660	46	32714											
OIT3	170392	broad.mit.edu	37	chr10	74671488	74671488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagacgttgaaggatgCcacaataacaatggtggctg	12	8	0	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr10:74671488C>T	ENST00000334011.5	+	5	899	c.681C>T	c.(679-681)tgC>tgT	p.C227C		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	227						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TTGAAGGATGCCACAATAACA	0.483													False	0	False	10:74671488	0	T	74671488	C	T	74671488	2	4	129	1	0	0	0	0	0	0	0	1	10917	747	26	2		2	OIT3	10	74671488	Silent	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	67453401	74671488	60863259	47	32715											
KCNA4	3739	broad.mit.edu	37	chr11	30033579	30033579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaaaaaaatactcattgCgcaaagggtcaaagtactga	8	7	3	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr11:30033579C>T	ENST00000328224.6	-	2	1880	c.647G>A	c.(646-648)cGc>cAc	p.R216H		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	216						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATACTCATTGCGCAAAGGGTC	0.478													False	0	False	11:30033579	0	T	30033579	C	T	30033579	3	4	129	1	0	0	0	0	1	0	0	0	8055	768	27	1	1318	1	KCNA4	11	30033579	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08		30033579	104972937	48	32716											
ARHGEF12	23365	broad.mit.edu	37	chr11	120348235	120348235	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcactggtttgcagagtccaGgtacactcttctgaagagtt	10	9	3	3			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr11:120348235G>T	ENST00000397843.2	+	36	3698	c.3532G>T	c.(3532-3534)Gac>Tac	p.D1178Y	ARHGEF12_ENST00000532993.1_Splice_Site_p.D1075Y|ARHGEF12_ENST00000356641.3_Splice_Site_p.D1159Y	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1178					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GCAGAGTCCAGGTACACTCTT	0.413			T	MLL	AML								False	0	False	11:120348235	0	T	120348235	G	T	120348235	5	4	129	1	0	0	0	0	0	0	1	0	899	1014	35	3	3674	3	ARHGEF12	11	120348235	Splice_Site	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	90314656	120348235	14658281	49	32717											
NFRKB	4798	broad.mit.edu	37	chr11	129739654	129739654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccagtccctgcacgatgCggatcgtggcagctggtttt	12	13	0	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr11:129739654C>T	ENST00000446488.3	-	23	3369	c.3266G>A	c.(3265-3267)cGc>cAc	p.R1089H	NFRKB_ENST00000524746.1_Missense_Mutation_p.R1089H|NFRKB_ENST00000524794.1_Missense_Mutation_p.R1114H|NFRKB_ENST00000304521.5_Missense_Mutation_p.R1089H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1089					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTGCACGATGCGGATCGTGGC	0.597													False	0	False	11:129739654	0	T	129739654	C	T	129739654	3	4	129	1	0	0	0	0	1	0	0	0	10452	768	27	1	649	1	NFRKB	11	129739654	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	9391419	129739654	5266862	50	32718											
TPI1	7167	broad.mit.edu	37	chr12	6979268	6979268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtccaacgtctctgatgCggtggctcagagcacccgta	12	12	2	2	rs139532537		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:6979268C>T	ENST00000229270.4	+	6	1047	c.710C>T	c.(709-711)gCg>gTg	p.A237V	TPI1_ENST00000535434.1_Missense_Mutation_p.A118V|TPI1_ENST00000488464.2_Missense_Mutation_p.A118V|TPI1_ENST00000396705.5_Missense_Mutation_p.A200V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	200					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GTCTCTGATGCGGTGGCTCAG	0.552											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:6979268	0	T	6979268	C	T	6979268	3	4	129	1	0	0	0	0	1	0	0	0	16486	768	27	1	732	1	TPI1	12	6979268	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08		6979268	126872627	51	32719											
GDF3	9573	broad.mit.edu	37	chr12	7843026	7843026	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttagctacatccagcaggttGaagtgaacagcaccttgtgg	11	9	0	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:7843026G>A	ENST00000329913.3	-	2	590	c.543C>T	c.(541-543)ttC>ttT	p.F181F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	181					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCAGCAGGTTGAAGTGAACAG	0.507													False	0	False	12:7843026	0	A	7843026	G	A	7843026	2	1	129	1	0	0	0	0	0	0	0	1	6360	1281	45	2		2	GDF3	12	7843026	Silent	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	863758	7843026	126008869	52	32720											
DUSP16	80824	broad.mit.edu	37	chr12	12639992	12639992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgatttgtccaaccacgGcaaaattttctcacaaaagc	5	11	1	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:12639992G>A	ENST00000228862.2	-	5	1292	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	RP11-253I19.3_ENST00000544086.1_lincRNA|DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	221					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TCCAACCACGGCAAAATTTTC	0.458													False	0	False	12:12639992	0	A	12639992	G	A	12639992	3	1	129	1	0	0	0	0	1	0	0	0	4846	1203	42	2	1348	2	DUSP16	12	12639992	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	4796966	12639992	121211903	53	32721											
DDX47	51202	broad.mit.edu	37	chr12	12974195	12974195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaagacaggcgcctttGctttgcccattctaaacgca	9	12	1	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:12974195G>T	ENST00000358007.3	+	3	257	c.235G>T	c.(235-237)Gct>Tct	p.A79S	DDX47_ENST00000392155.2_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.A79S	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	79	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AGGCGCCTTTGCTTTGCCCAT	0.488													False	0	True	12:12974195	0	T	12974195	G	T	12974195	3	4	129	1	0	0	0	0	1	0	0	0	4390	1319	46	3	245	3	DDX47	12	12974195	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	334203	12974195	120877700	54	32722											
LRMP	4033	broad.mit.edu	37	chr12	25232195	25232195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagaatggtgttgaacgCgtgtgtcctgagagcctgct	15	7	0	3	rs114104872	by1000genomes	TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:25232195C>T	ENST00000354454.3	+	6	871	c.42C>T	c.(40-42)cgC>cgT	p.R14R	LRMP_ENST00000547044.1_Silent_p.R14R|LRMP_ENST00000548766.1_Silent_p.R14R	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	70					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTGTTGAACGCGTGTGTCCTG	0.373													False	0	True	12:25232195	0	T	25232195	C	T	25232195	2	4	129	1	0	0	0	0	0	0	0	1	9012	755	27	1		1	LRMP	12	25232195	Silent	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	12258000	25232195	108619700	55	32723											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	129	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	166089	25398284	108453611	56	32724											
STAT6	6778	broad.mit.edu	37	chr12	57492807	57492807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accacactcacctttccacgGtcatcttgatggtagctggg	9	13	3	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:57492807G>A	ENST00000300134.3	-	17	2271	c.1946C>T	c.(1945-1947)aCc>aTc	p.T649I	STAT6_ENST00000454075.3_Missense_Mutation_p.T649I|STAT6_ENST00000537215.2_Missense_Mutation_p.T539I|STAT6_ENST00000556155.1_Missense_Mutation_p.T649I|STAT6_ENST00000543873.2_Missense_Mutation_p.T649I|STAT6_ENST00000538913.2_Missense_Mutation_p.T539I	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	649					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCTTTCCACGGTCATCTTGAT	0.532													False	0	False	12:57492807	0	A	57492807	G	A	57492807	3	1	129	1	0	0	0	0	1	0	0	0	15352	1261	44	2	621	2	STAT6	12	57492807	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	32094523	57492807	76359088	57	32725											
B4GALNT1	2583	broad.mit.edu	37	chr12	58021575	58021575	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgaggcctggggcgccggGctccacgctcagcagctgcc	15	18	1	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:58021575G>T	ENST00000341156.4	-	10	1794	c.1210C>A	c.(1210-1212)Ccc>Acc	p.P404T	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.P349T	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	404					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGGCGCCGGGCTCCACGCTC	0.706													False	0	True	12:58021575	0	T	58021575	G	T	58021575	3	4	129	1	0	0	0	0	1	0	0	0	1270	1203	42	3	399	3	B4GALNT1	12	58021575	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	528768	58021575	75830320	58	32726											
NAV3	89795	broad.mit.edu	37	chr12	78604240	78604240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacacaaagctgcgacagCgaaagcaccagccaccatga	9	14	0	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:78604240C>T	ENST00000397909.2	+	40	7274	c.7101C>T	c.(7099-7101)agC>agT	p.S2367S	NAV3_ENST00000266692.7_Silent_p.S2168S|NAV3_ENST00000541270.1_Silent_p.S197S|NAV3_ENST00000536525.2_Silent_p.S2345S|NAV3_ENST00000228327.6_Silent_p.S2345S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2367						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTGCGACAGCGAAAGCACCA	0.393										HNSCC(70;0.22)			False	0	False	12:78604240	0	T	78604240	C	T	78604240	2	4	129	1	0	0	0	0	0	0	0	1	10252	767	27	1		1	NAV3	12	78604240	Silent	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	20582665	78604240	55247655	59	32727											
NDUFA12	55967	broad.mit.edu	37	chr12	95397439	95397439	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgctgcagcccgcgtttcagGacctgcactaactccatctt	8	15	2	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:95397439G>T	ENST00000327772.2	-	1	107	c.18C>A	c.(16-18)gtC>gtA	p.V6V	NDUFA12_ENST00000547986.1_Silent_p.V6V|NDUFA12_ENST00000547157.1_Silent_p.V6V	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	6					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	CGCGTTTCAGGACCTGCACTA	0.647													False	0	False	12:95397439	0	T	95397439	G	T	95397439	2	4	129	1	0	0	0	0	0	0	0	1	10330	1161	41	3		3	NDUFA12	12	95397439	Silent	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	16793199	95397439	38454456	60	32728											
CCDC38	120935	broad.mit.edu	37	chr12	96292480	96292480	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtctttttcaaactttttGattgtgtttcttttggttga	7	4	3	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:96292480G>T	ENST00000344280.3	-	6	956	c.399C>A	c.(397-399)atC>atA	p.I133I	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	133										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAAACTTTTTGATTGTGTTTC	0.373													False	0	True	12:96292480	0	T	96292480	G	T	96292480	2	4	129	1	0	0	0	0	0	0	0	1	2831	1280	45	3		3	CCDC38	12	96292480	Silent	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	895041	96292480	37559415	61	32729											
PUS1	80324	broad.mit.edu	37	chr12	132426131	132426131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggagggcctggagtttgCggtgatcagggtgaagggcc	21	7	1	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr12:132426131C>T	ENST00000542167.2	+	4	1433	c.680C>T	c.(679-681)gCg>gTg	p.A227V	PUS1_ENST00000443358.2_Missense_Mutation_p.A252V|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Missense_Mutation_p.A252V|PUS1_ENST00000376649.3_Missense_Mutation_p.A280V			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	280						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CTGGAGTTTGCGGTGATCAGG	0.592													False	0	False	12:132426131	0	T	132426131	C	T	132426131	3	4	129	1	0	0	0	0	1	0	0	0	12909	768	27	1	857	1	PUS1	12	132426131	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	36133651	132426131	1425764	62	32730											
OR4N2	390429	broad.mit.edu	37	chr14	20295937	20295937	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcacttccttggaggaggGgagggattactccttgttgt	14	7	0	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:20295937G>A	ENST00000568211.1	+	1	330	c.330G>A	c.(328-330)ggG>ggA	p.G110G	OR4N2_ENST00000315947.1_Silent_p.G110G			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGAGGAGGGGAGGGATTAC	0.522													False	0	True	14:20295937	0	A	20295937	G	A	20295937	2	1	129	1	0	0	0	0	0	0	0	1	11145	1219	43	2		2	OR4N2	14	20295937	Silent	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08		20295937	87053603	63	32731											
PRMT5	10419	broad.mit.edu	37	chr14	23391693	23391693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagtctcaaagtagccgGcaaagccatgtagtactgtg	11	10	1	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:23391693G>A	ENST00000324366.8	-	15	1878	c.1655C>T	c.(1654-1656)gCc>gTc	p.A552V	PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.A508V|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.A535V|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.A381V|PRMT5_ENST00000538452.1_Missense_Mutation_p.A446V|PRMT5_ENST00000216350.8_Missense_Mutation_p.A491V	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	552					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AAAGTAGCCGGCAAAGCCATG	0.463													False	0	False	14:23391693	0	A	23391693	G	A	23391693	3	1	129	1	0	0	0	0	1	0	0	0	12615	1203	42	2	270	2	PRMT5	14	23391693	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	3095756	23391693	83957847	64	32732											
NID2	22795	broad.mit.edu	37	chr14	52505475	52505475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaccttacctttgaccggGccaatttgattggtcacagc	9	11	1	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:52505475G>A	ENST00000216286.5	-	9	2246	c.2247C>T	c.(2245-2247)ggC>ggT	p.G749G	NID2_ENST00000541773.1_Silent_p.G696G	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	749	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTTTGACCGGGCCAATTTGAT	0.438													False	0	True	14:52505475	0	A	52505475	G	A	52505475	2	1	129	1	0	0	0	0	0	0	0	1	10483	1190	42	2		2	NID2	14	52505475	Silent	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	29113782	52505475	54844065	65	32733											
PAPLN	89932	broad.mit.edu	37	chr14	73733472	73733472	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgccccctactgtgacagtgCcagagggtgatacggccagg	14	12	0	3			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:73733472C>G	ENST00000427855.1	+	25	3535	c.3433C>G	c.(3433-3435)Cca>Gca	p.P1145A	PAPLN_ENST00000340738.5_Missense_Mutation_p.P1118A|PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000555445.1_Missense_Mutation_p.P1129A|PAPLN_ENST00000554301.1_Missense_Mutation_p.P1145A			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1145	Ig-like C2-type 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGTGACAGTGCCAGAGGGTGA	0.547													False	0	False	14:73733472	0	G	73733472	C	G	73733472	3	3	129	1	0	0	0	0	1	0	0	0	11496	739	26	5	3442	5	PAPLN	14	73733472	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	21227997	73733472	33616068	66	32734											
EML5	161436	broad.mit.edu	37	chr14	89181392	89181392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaagggatcccaaacactcGccaacttttttataacgctg	6	12	0	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:89181392G>A	ENST00000554922.1	-	9	1583	c.1335C>T	c.(1333-1335)ggC>ggT	p.G445G	EML5_ENST00000380664.5_Silent_p.G445G|EML5_ENST00000352093.5_Silent_p.G445G	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	445						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCAAACACTCGCCAACTTTTT	0.383													False	0	False	14:89181392	0	A	89181392	G	A	89181392	2	1	129	1	0	0	0	0	0	0	0	1	5132	1074	38	1		1	EML5	14	89181392	Silent	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	15447920	89181392	18168148	67	32735											
EIF5	1983	broad.mit.edu	37	chr14	103805083	103805083	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cataaacaggaagaagaggaGgatgatgactggggagaaga	16	3	0	6			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr14:103805083G>T	ENST00000216554.3	+	8	1273	c.597G>T	c.(595-597)gaG>gaT	p.E199D	EIF5_ENST00000392715.2_Missense_Mutation_p.E199D|EIF5_ENST00000558506.1_Missense_Mutation_p.E199D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	199	Asp/Glu-rich (highly acidic).				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AAGAAGAGGAGGATGATGACT	0.413													False	0	False	14:103805083	0	T	103805083	G	T	103805083	3	4	129	1	0	0	0	0	1	0	0	0	5072	991	35	3	619	3	EIF5	14	103805083	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	14623691	103805083	3544457	68	32736											
OCA2	4948	broad.mit.edu	37	chr15	28263652	28263652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cactggccactagggcccctGccaggtccacctgcagcagc	11	18	0	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr15:28263652G>T	ENST00000354638.3	-	7	853	c.698C>A	c.(697-699)gCa>gAa	p.A233E	OCA2_ENST00000382996.2_Missense_Mutation_p.A233E|OCA2_ENST00000353809.5_Missense_Mutation_p.A233E	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	233					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TAGGGCCCCTGCCAGGTCCAC	0.647									Oculocutaneous Albinism				False	0	False	15:28263652	0	T	28263652	G	T	28263652	3	4	129	1	0	0	0	0	1	0	0	0	10883	1319	46	3	1890	3	OCA2	15	28263652	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08		28263652	74267740	69	32737											
ACAN	176	broad.mit.edu	37	chr15	89382106	89382106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccactgaagggcgcgtgCgggtcaacagtgcctatcag	15	11	2	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr15:89382106C>T	ENST00000439576.2	+	3	657	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	ACAN_ENST00000558207.1_Missense_Mutation_p.R95W|ACAN_ENST00000559004.1_Missense_Mutation_p.R95W|ACAN_ENST00000561243.1_Missense_Mutation_p.R95W|ACAN_ENST00000352105.7_Missense_Mutation_p.R95W	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	95					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGGGCGCGTGCGGGTCAACAG	0.622													False	0	True	15:89382106	0	T	89382106	C	T	89382106	3	4	129	1	0	0	0	0	1	0	0	0	117	759	27	1	289	1	ACAN	15	89382106	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	61118454	89382106	13149286	70	32738											
GP2	2813	broad.mit.edu	37	chr16	20329591	20329591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaacaccaggttaaacCgggaggtgtccccttgttcc	9	14	1	0	rs145287300		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr16:20329591C>T	ENST00000302555.5	-	7	1318	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	GP2_ENST00000341642.5_Missense_Mutation_p.R243Q|GP2_ENST00000381360.5_Missense_Mutation_p.R246Q|GP2_ENST00000381362.4_Missense_Mutation_p.R393Q			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	393	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGGTTAAACCGGGAGGTGTC	0.498													False	0	True	16:20329591	0	T	20329591	C	T	20329591	3	4	129	1	0	0	0	0	1	0	0	0	6628	652	23	1	455	1	GP2	16	20329591	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08		20329591	70025162	71	32739											
ZNF689	115509	broad.mit.edu	37	chr16	30616626	30616626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcagggaaggtacagccGcagtcagggcagatggggcc	17	9	2	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr16:30616626G>A	ENST00000287461.3	-	3	799	c.462C>T	c.(460-462)tgC>tgT	p.C154C	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			AGGTACAGCCGCAGTCAGGGC	0.627													False	0	False	16:30616626	0	A	30616626	G	A	30616626	2	1	129	1	0	0	0	0	0	0	0	1	18177	1079	38	1		1	ZNF689	16	30616626	Silent	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	10287035	30616626	59738127	72	32740											
P2RX1	5023	broad.mit.edu	37	chr17	3807664	3807664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccaggggtacagccactGtcttccttgcatatgccccc	8	16	1	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:3807664G>A	ENST00000225538.3	-	4	661	c.387C>T	c.(385-387)gaC>gaT	p.D129D		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	129					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TACAGCCACTGTCTTCCTTGC	0.657													False	0	False	17:3807664	0	A	3807664	G	A	3807664	2	1	129	1	0	0	0	0	0	0	0	1	11407	1368	48	2		2	P2RX1	17	3807664	Silent	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08		3807664	77387546	73	32741											
CHD3	1107	broad.mit.edu	37	chr17	7807208	7807208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggccatcgctcggctgttgGaccggaaccaggatgcaact	13	12	0	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:7807208G>A	ENST00000380358.4	+	24	3971	c.3970G>A	c.(3970-3972)Gac>Aac	p.D1324N	CHD3_ENST00000330494.7_Missense_Mutation_p.D1265N|CHD3_ENST00000358181.4_Missense_Mutation_p.D1265N	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1265					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCGGCTGTTGGACCGGAACCA	0.517													False	0	False	17:7807208	0	A	7807208	G	A	7807208	3	1	129	1	0	0	0	0	1	0	0	0	3349	1174	41	2	4168	2	CHD3	17	7807208	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	3999544	7807208	73388002	74	32742											
SLC47A1	55244	broad.mit.edu	37	chr17	19480756	19480756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaacatccacaggacggcGctaaattgtccaggaaacag	11	11	0	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:19480756G>A	ENST00000270570.4	+	17	1689	c.1603G>A	c.(1603-1605)Gct>Act	p.A535T	SLC47A1_ENST00000395585.1_Missense_Mutation_p.A535T|SLC47A1_ENST00000571335.1_Missense_Mutation_p.A281T|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Missense_Mutation_p.A535T|SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000575023.1_Missense_Mutation_p.A233T	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	535						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					ACAGGACGGCGCTAAATTGTC	0.512													False	0	False	17:19480756	0	A	19480756	G	A	19480756	3	1	129	1	0	0	0	0	1	0	0	0	14727	1087	38	1	1669	1	SLC47A1	17	19480756	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	11673548	19480756	61714454	75	32743											
MAPT	4137	broad.mit.edu	37	chr17	44073913	44073913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgtactccacccaagtcGccgtcttccgccaagagccg	9	18	1	1	rs115142761	by1000genomes	TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:44073913G>A	ENST00000344290.5	+	11	2032	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000340799.5_Silent_p.S206S|MAPT_ENST00000334239.8_Silent_p.S177S|MAPT_ENST00000574436.1_Silent_p.S235S|MAPT_ENST00000571987.1_Silent_p.S552S|MAPT_ENST00000431008.3_Silent_p.S235S|MAPT_ENST00000415613.2_Silent_p.S570S|MAPT_ENST00000535772.1_Silent_p.S235S|MAPT_ENST00000446361.3_Silent_p.S177S|MAPT_ENST00000262410.5_Silent_p.S552S|MAPT_ENST00000420682.2_Silent_p.S206S|MAPT_ENST00000576518.1_Silent_p.S166S|MAPT_ENST00000347967.5_Silent_p.S141S|MAPT_ENST00000351559.5_Silent_p.S235S	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	552					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CACCCAAGTCGCCGTCTTCCG	0.662													False	0	False	17:44073913	0	A	44073913	G	A	44073913	2	1	129	1	0	0	0	0	0	0	0	1	9364	1074	38	1		1	MAPT	17	44073913	Silent	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	24593157	44073913	37121297	76	32744											
RNF43	54894	broad.mit.edu	37	chr17	56440757	56440757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccaggtcagccccagcGgctgctgcagctacaggggg	16	14	1	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:56440757G>A	ENST00000584437.1	-	4	2416	c.461C>T	c.(460-462)cCg>cTg	p.P154L	RNF43_ENST00000500597.2_Missense_Mutation_p.P113L|RNF43_ENST00000577716.1_Missense_Mutation_p.P154L|RNF43_ENST00000407977.2_Missense_Mutation_p.P154L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.P113L|RNF43_ENST00000581868.1_Missense_Mutation_p.P27L|RNF43_ENST00000577625.1_Missense_Mutation_p.P27L			Q68DV7	RNF43_HUMAN	ring finger protein 43	154						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCCCCAGCGGCTGCTGCAG	0.577													False	0	False	17:56440757	0	A	56440757	G	A	56440757	3	1	129	1	0	0	0	0	1	0	0	0	13574	1116	39	1	1914	1	RNF43	17	56440757	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	12366844	56440757	24754453	77	32745											
TLK2	11011	broad.mit.edu	37	chr17	60637441	60637441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctagagaaatacaaggaacGattaaatagatgtgtgacaa	10	4	0	3			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:60637441G>A	ENST00000582809.1	+	11	1041	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	TLK2_ENST00000326270.9_Missense_Mutation_p.R262Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R262Q|TLK2_ENST00000542523.1_Missense_Mutation_p.R230Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R230Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	262					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.R262Q(17)|p.R261Q(9)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TACAAGGAACGATTAAATAGA	0.358													False	0	False	17:60637441	0	A	60637441	G	A	60637441	3	1	129	1	0	0	0	0	1	0	0	0	16026	1058	37	1	819	1	TLK2	17	60637441	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	4196684	60637441	20557769	78	32746											
BPTF	2186	broad.mit.edu	37	chr17	65862758	65862758	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acataactgaagacctgaccAataaggctcggggcagtaac	10	10	0	3			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:65862758A>G	ENST00000321892.4	+	3	1676	c.1615A>G	c.(1615-1617)Aat>Gat	p.N539D	BPTF_ENST00000306378.6_Missense_Mutation_p.N539D|BPTF_ENST00000335221.5_Missense_Mutation_p.N539D|BPTF_ENST00000424123.3_Missense_Mutation_p.N400D			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	539					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGACCTGACCAATAAGGCTCG	0.428													False	0	False	17:65862758	0	G	65862758	A	G	65862758	3	3	129	1	0	0	0	0	1	0	0	0	1502	130	5	4	1625	4	BPTF	17	65862758	Missense_Mutation	SNP	A	TCGA-S4-A8RM-01A-11D-A377-08	5225317	65862758	15332452	79	32747											
RNF157	114804	broad.mit.edu	37	chr17	74148532	74148532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactccatacctagaaatgCgcacgtcctctggcctgtaa	7	14	1	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:74148532C>T	ENST00000269391.6	-	18	1957	c.1825G>A	c.(1825-1827)Gca>Aca	p.A609T	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157_ENST00000319945.6_Missense_Mutation_p.A587T|RNF157-AS1_ENST00000586627.1_RNA	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	609							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CCTAGAAATGCGCACGTCCTC	0.458													False	0	False	17:74148532	0	T	74148532	C	T	74148532	3	4	129	1	0	0	0	0	1	0	0	0	13533	768	27	1	222	1	RNF157	17	74148532	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	8285774	74148532	7046678	80	32748											
RNF213	57674	broad.mit.edu	37	chr17	78321225	78321225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccttctcagaaggtgccGggtggagagcaggaagatgc	18	8	1	3			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr17:78321225G>A	ENST00000582970.1	+	29	9233	c.9090G>A	c.(9088-9090)ccG>ccA	p.P3030P	RNF213_ENST00000508628.2_Silent_p.P3079P|RNF213_ENST00000336301.6_Silent_p.P1103P	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAAGGTGCCGGGTGGAGAGC	0.547													False	0	True	17:78321225	0	A	78321225	G	A	78321225	2	1	129	1	0	0	0	0	0	0	0	1	13556	1103	39	1		1	RNF213	17	78321225	Silent	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	4172693	78321225	2873985	81	32749											
SMAD4	4089	broad.mit.edu	37	chr18	48604715	48604716	+	Frame_Shift_Ins	INS	-	-	A													gaaaggctggggaccggattINSacccaagacagagcatcaaa							TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr18:48604715_48604716insA	ENST00000588745.1	+	8	1249_1250	c.1249_1250insA	c.(1249-1251)tacfs	p.Y417fs	SMAD4_ENST00000342988.3_Frame_Shift_Ins_p.Y513fs|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.Y513fs|SMAD4_ENST00000586253.1_3'UTR			Q13485	SMAD4_HUMAN	SMAD family member 4	513	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGGACCGGATTACCCAAGACAG	0.48													False	1	True	18:48604715	0	A	48604716	-	A	48604715	7	5	129	1	0	1	1	0	0	0	0	0	14840	1754	61	0	1579	0	SMAD4	18	48604715	Frame_Shift_Ins	INS	-	TCGA-S4-A8RM-01A-11D-A377-08		48604715	29472533	82	32750											
ZNF407	55628	broad.mit.edu	37	chr18	72347373	72347373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcatctggctagtgcCggccacatgagaaatgagca	11	12	1	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr18:72347373C>T	ENST00000299687.5	+	1	4398	c.4398C>T	c.(4396-4398)gcC>gcT	p.A1466A	ZNF407_ENST00000577538.1_Silent_p.A1466A|ZNF407_ENST00000309902.6_Silent_p.A1466A|ZNF407_ENST00000582337.1_Silent_p.A1466A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGGCTAGTGCCGGCCACATGA	0.498													False	0	False	18:72347373	0	T	72347373	C	T	72347373	2	4	129	1	0	0	0	0	0	0	0	1	17970	639	23	1		1	ZNF407	18	72347373	Silent	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	23742658	72347373	5729875	83	32751											
TNFSF9	8744	broad.mit.edu	37	chr19	6534843	6534843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctctgctgctggggccgcCgccctggctttgaccgtgga	15	15	1	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr19:6534843C>T	ENST00000245817.3	+	3	569	c.531C>T	c.(529-531)gcC>gcT	p.A177A		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	177					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTGGGGCCGCCGCCCTGGCTT	0.692													False	0	True	19:6534843	0	T	6534843	C	T	6534843	2	4	129	1	0	0	0	0	0	0	0	1	16394	639	23	1		1	TNFSF9	19	6534843	Silent	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08		6534843	52594140	84	32752											
TRPM4	54795	broad.mit.edu	37	chr19	49684660	49684660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctgcgtttggctgtggCttggaaccgcgtggacattg	16	8	0	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr19:49684660C>T	ENST00000252826.5	+	10	1331	c.1205C>T	c.(1204-1206)gCt>gTt	p.A402V	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.A402V|TRPM4_ENST00000601347.1_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	402					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TTGGCTGTGGCTTGGAACCGC	0.617													False	0	False	19:49684660	0	T	49684660	C	T	49684660	3	4	129	1	0	0	0	0	1	0	0	0	16671	797	28	2	1243	2	TRPM4	19	49684660	Missense_Mutation	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	43149817	49684660	9444323	85	32753											
ZNF468	90333	broad.mit.edu	37	chr19	53344850	53344850	+	Frame_Shift_Del	DEL	G	G	-													ttctaagtgaattatctgatGtttttttaagagtgagctgc							TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr19:53344850delG	ENST00000595646.1	-	4	817	c.697delC	c.(697-699)catfs	p.H233fs	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Frame_Shift_Del_p.H180fs|ZNF468_ENST00000390651.4_Frame_Shift_Del_p.H180fs|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ATTATCTGATGTTTTTTTAAG	0.353													False	1	True	19:53344850	0	-	53344850	G	-	53344850	7	5	129	1	0	1	0	1	0	0	0	0	18011	1377	48	0	875	0	ZNF468	19	53344850	Frame_Shift_Del	DEL	G	TCGA-S4-A8RM-01A-11D-A377-08	3660190	53344850	5784133	86	32754											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506675	44506675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgccgccctcgcaggttgGcatgctggacaccttgcacc	12	15	0	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr20:44506675G>A	ENST00000255152.2	+	2	1687	c.1478G>A	c.(1477-1479)gGc>gAc	p.G493D	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.G487D	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	493							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TCGCAGGTTGGCATGCTGGAC	0.582													False	0	False	20:44506675	0	A	44506675	G	A	44506675	3	1	129	1	0	0	0	0	1	0	0	0	18324	1203	42	2	1484	2	ZSWIM3	20	44506675	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08		44506675	18518845	87	32755											
DIDO1	11083	broad.mit.edu	37	chr20	61511162	61511162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcgcactggaggagagcGcggagggcggcccggcctcc	20	14	0	1			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr20:61511162G>A	ENST00000266070.4	-	16	6471	c.6146C>T	c.(6145-6147)gCg>gTg	p.A2049V	DIDO1_ENST00000395343.1_Missense_Mutation_p.A2049V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2049					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGAGGAGAGCGCGGAGGGCGG	0.716													False	0	False	20:61511162	0	A	61511162	G	A	61511162	3	1	129	1	0	0	0	0	1	0	0	0	4552	1087	38	1	580	1	DIDO1	20	61511162	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	17004487	61511162	1514358	88	32756											
COL20A1	57642	broad.mit.edu	37	chr20	61950533	61950533	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccgaggacttccagcccctCcttggggttctgctggatgg	14	13	1	0			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chr20:61950533C>A	ENST00000422202.1	+	21	2876	c.2808C>A	c.(2806-2808)ctC>ctA	p.L936L	COL20A1_ENST00000358894.6_Silent_p.L929L|COL20A1_ENST00000435874.1_Silent_p.L936L|COL20A1_ENST00000326996.6_Silent_p.L929L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	929	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TCCAGCCCCTCCTTGGGGTTC	0.667													False	0	False	20:61950533	0	A	61950533	C	A	61950533	2	1	129	1	0	0	0	0	0	0	0	1	3702	842	30	3		3	COL20A1	20	61950533	Silent	SNP	C	TCGA-S4-A8RM-01A-11D-A377-08	439371	61950533	1074987	89	32757											
FOXR2	139628	broad.mit.edu	37	chrX	55650498	55650498	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcccccacaaaaagacgaAgggtctaactgctcagagga	10	12	2	2			TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chrX:55650498A>G	ENST00000339140.3	+	1	666	c.354A>G	c.(352-354)gaA>gaG	p.E118E		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	118					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAAAAGACGAAGGGTCTAACT	0.527													False	0	True	X:55650498	0	G	55650498	A	G	55650498	2	3	129	1	0	0	0	0	0	0	0	1	6074	69	3	4		4	FOXR2	23	55650498	Silent	SNP	A	TCGA-S4-A8RM-01A-11D-A377-08		55650498	99620062	90	32758											
KLHL4	0	broad.mit.edu	37	chrX	86887279	86887279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattggcaccatgaatggccGtaggcttcaatttggagtcg	12	8	1	1	rs146910003		TCGA-S4-A8RM-01A-11D-A377-08	TCGA-S4-A8RM-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	af1fa9c9-fb3e-4ffb-b79d-9f79f2adbe3a	f9ea46fe-0a5b-46ab-a347-8fa786bdea4b	g.chrX:86887279G>A	ENST00000373119.4	+	7	1539	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	KLHL4_ENST00000373114.4_Missense_Mutation_p.R465H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	465						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.R465H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATGAATGGCCGTAGGCTTCAA	0.388													False	0	False	X:86887279	0	A	86887279	G	A	86887279	3	1	129	1	0	0	0	0	1	0	0	0	8441	1145	40	1	1420	1	KLHL4	23	86887279	Missense_Mutation	SNP	G	TCGA-S4-A8RM-01A-11D-A377-08	31236781	86887279	68383281	91	32759											
ANKRD34A	284615	broad.mit.edu	37	chr1	145474036	145474036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctccccaaaccaccacgCcatcccccaaaaccactcaa	2	23	1	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:145474036C>T	ENST00000323397.4	+	4	2001	c.708C>T	c.(706-708)cgC>cgT	p.R236R		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	236	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCACCACGCCATCCCCCAA	0.622													False	0	False	1:145474036	0	T	145474036	C	T	145474036	2	4	130	1	0	0	0	0	0	0	0	1	662	726	26	2		2	ANKRD34A	1	145474036	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		145474036	103776585	1	32760											
ANKRD35	148741	broad.mit.edu	37	chr1	145558485	145558485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcctgctgtgtgaccaCgaagccttcctggacgtgtt	12	12	0	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:145558485C>T	ENST00000544626.1	+	5	441	c.368C>T	c.(367-369)aCg>aTg	p.T123M	ANKRD35_ENST00000355594.4_Silent_p.H142H			Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	0										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTGTGACCACGAAGCCTTCC	0.542													False	0	False	1:145558485	0	T	145558485	C	T	145558485	3	4	130	1	0	0	0	0	1	0	0	0	664	535	19	1	448	1	ANKRD35	1	145558485	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	84449	145558485	103692136	2	32761											
C1orf105	92346	broad.mit.edu	37	chr1	172437641	172437641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacagctgtcttccaCggattactgacagaggccta	10	13	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:172437641C>T	ENST00000367727.4	+	7	657	c.459C>T	c.(457-459)caC>caT	p.H153H	C1orf105_ENST00000367725.4_Silent_p.H143H|C1orf105_ENST00000367726.1_3'UTR	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	153										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTGTCTTCCACGGATTACTGA	0.478													False	0	False	1:172437641	0	T	172437641	C	T	172437641	2	4	130	1	0	0	0	0	0	0	0	1	1994	535	19	1		1	C1orf105	1	172437641	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	26879156	172437641	76812980	3	32762											
CRB1	23418	broad.mit.edu	37	chr1	197411423	197411423	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcgctgcgaggtggacGtaagcagcctctccttttat	13	11	1	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:197411423G>A	ENST00000367400.3	+	11	4140		c.e11+1		CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000535699.1_Splice_Site|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000367397.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGAGGTGGACGTAAGCAGCCT	0.478													False	0	False	1:197411423	0	A	197411423	G	A	197411423	5	1	130	1	0	0	0	0	0	0	1	0	3871	1159	40	1	4048	1	CRB1	1	197411423	Splice_Site	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	24973782	197411423	51839198	4	32763											
USH2A	7399	broad.mit.edu	37	chr1	216144042	216144042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactccaaggagcaaatccGtaagcacgatagctgagttc	9	10	0	1	rs147615382		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:216144042G>A	ENST00000366943.2	-	36	7268	c.6882C>T	c.(6880-6882)taC>taT	p.Y2294Y	USH2A_ENST00000307340.3_Silent_p.Y2294Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2294	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGCAAATCCGTAAGCACGAT	0.418										HNSCC(13;0.011)			False	0	False	1:216144042	0	A	216144042	G	A	216144042	2	1	130	1	0	0	0	0	0	0	0	1	17120	1140	40	1		1	USH2A	1	216144042	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	18732619	216144042	33106579	5	32764											
FMN2	56776	broad.mit.edu	37	chr1	240256586	240256586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaggacctgacgcccccGcggccgcttccctgcccggc	12	21	0	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:240256586G>A	ENST00000319653.9	+	1	1407	c.1177G>A	c.(1177-1179)Gcg>Acg	p.A393T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	393					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.A536T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGACGCCCCCGCGGCCGCTTC	0.726													False	0	True	1:240256586	0	A	240256586	G	A	240256586	3	1	130	1	0	0	0	0	1	0	0	0	5990	1087	38	1	1179	1	FMN2	1	240256586	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	24112544	240256586	8994035	6	32765											
MYT1L	23040	broad.mit.edu	37	chr2	1983497	1983497	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agggaagcgcggacatacctCgaacccctttggaccgcgtg	13	13	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:1983497C>A	ENST00000399161.2	-	6	800	c.53G>T	c.(52-54)cGa>cTa	p.R18L	MYT1L_ENST00000428368.2_Missense_Mutation_p.R18L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	18					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGACATACCTCGAACCCCTTT	0.582													False	0	False	2:1983497	0	A	1983497	C	A	1983497	3	1	130	1	0	0	0	0	1	0	0	0	10174	884	31	3	3581	3	MYT1L	2	1983497	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		1983497	241215876	7	32766											
CRIM1	51232	broad.mit.edu	37	chr2	36704145	36704145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttgccatctgcttcaccGcccagtgtggtgagataaac	11	12	2	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:36704145G>A	ENST00000280527.2	+	6	1472	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	369	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CTGCTTCACCGCCCAGTGTGG	0.483													False	0	True	2:36704145	0	A	36704145	G	A	36704145	3	1	130	1	0	0	0	0	1	0	0	0	3896	1087	38	1	1127	1	CRIM1	2	36704145	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	34720648	36704145	206495228	8	32767											
GFPT1	2673	broad.mit.edu	37	chr2	69556893	69556893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcatcacacatcataaggGcaaacatcacaagggataca	7	10	4	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:69556893G>A	ENST00000357308.4	-	16	1698	c.1520C>T	c.(1519-1521)gCc>gTc	p.A507V	GFPT1_ENST00000361060.4_Missense_Mutation_p.A489V	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	507	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CATCATAAGGGCAAACATCAC	0.408													False	0	True	2:69556893	0	A	69556893	G	A	69556893	3	1	130	1	0	0	0	0	1	0	0	0	6390	1203	42	2	599	2	GFPT1	2	69556893	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	32852748	69556893	173642480	9	32768											
WNT6	7475	broad.mit.edu	37	chr2	219735855	219735855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgagccggaagtggtgGcagagctagctcggggcgcc	19	10	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:219735855G>A	ENST00000233948.3	+	2	404	c.187G>A	c.(187-189)Gca>Aca	p.A63T	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	63					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGTGGTGGCAGAGCTAGC	0.682													False	0	False	2:219735855	0	A	219735855	G	A	219735855	3	1	130	1	0	0	0	0	1	0	0	0	17477	1203	42	2	193	2	WNT6	2	219735855	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	150178962	219735855	23463518	10	32769											
AGXT	189	broad.mit.edu	37	chr2	241817502	241817502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatgactggagagacatcGtcagctacgtcatagaccac	10	11	2	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:241817502G>A	ENST00000307503.3	+	10	1393	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	336			V -> D (in HP1).		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	p.V336I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GAGAGACATCGTCAGCTACGT	0.617													False	0	False	2:241817502	0	A	241817502	G	A	241817502	3	1	130	1	0	0	0	0	1	0	0	0	404	1145	40	1	1044	1	AGXT	2	241817502	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	22081647	241817502	1381871	11	32770											
PROS1	5627	broad.mit.edu	37	chr3	93611912	93611912	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagtgatcgatagattctgcGtacagtatcacgccttctga	10	9	3	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:93611912G>C	ENST00000394236.3	-	10	1336	c.1020C>G	c.(1018-1020)taC>taG	p.Y340*	PROS1_ENST00000407433.1_Nonsense_Mutation_p.Y209*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	340	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TAGATTCTGCGTACAGTATCA	0.393													False	0	False	3:93611912	0	C	93611912	G	C	93611912	4	2	130	1	0	0	0	0	0	1	0	0	12634	1140	40	5	1034	5	PROS1	3	93611912	Nonsense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		93611912	104410518	12	32771											
OR5H1	26341	broad.mit.edu	37	chr3	97852022	97852022	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgctttaatccatgaaGgatttttattcagactaacc	5	8	2	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:97852022G>T	ENST00000354565.2	+	1	481	c.481G>T	c.(481-483)Gga>Tga	p.G161*	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AATCCATGAAGGATTTTTATT	0.358													False	0	False	3:97852022	0	T	97852022	G	T	97852022	4	4	130	1	0	0	0	0	0	1	0	0	11227	1001	35	3	483	3	OR5H1	3	97852022	Nonsense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	4240110	97852022	100170408	13	32772											
OR5H14	403273	broad.mit.edu	37	chr3	97868710	97868710	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgctttaatccatgaaGgatttttattcagactaacc	5	8	2	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:97868710G>T	ENST00000437310.1	+	1	541	c.481G>T	c.(481-483)Gga>Tga	p.G161*		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATCCATGAAGGATTTTTATT	0.353													False	0	False	3:97868710	0	T	97868710	G	T	97868710	4	4	130	1	0	0	0	0	0	1	0	0	11228	1001	35	3	483	3	OR5H14	3	97868710	Nonsense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	16688	97868710	100153720	14	32773											
MED12L	116931	broad.mit.edu	37	chr3	151075109	151075109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcgtggctgttctcaggCgctatcacagttgtctaatc	10	11	3	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:151075109C>T	ENST00000474524.1	+	18	2703	c.2665C>T	c.(2665-2667)Cgc>Tgc	p.R889C	MED12L_ENST00000273432.4_Missense_Mutation_p.R749C|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	889					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTTCTCAGGCGCTATCACAG	0.453													False	0	False	3:151075109	0	T	151075109	C	T	151075109	3	4	130	1	0	0	0	0	1	0	0	0	9496	768	27	1	2735	1	MED12L	3	151075109	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	53206399	151075109	46947321	15	32774											
BCL6	604	broad.mit.edu	37	chr3	187447652	187447652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactgtacaggctgggggCaaaggctctgctctcacacc	12	14	2	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:187447652C>T	ENST00000406870.2	-	5	907	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	BCL6_ENST00000450123.2_Missense_Mutation_p.A181T|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A181T	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	181					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGGCTGGGGGCAAAGGCTCTG	0.602			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								False	0	True	3:187447652	0	T	187447652	C	T	187447652	3	4	130	1	0	0	0	0	1	0	0	0	1380	710	25	2	1603	2	BCL6	3	187447652	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	36372543	187447652	10574778	16	32775											
KCTD8	386617	broad.mit.edu	37	chr4	44177058	44177058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtgcttttttagaggggcGatccaatgttaaagtgttag	13	4	0	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr4:44177058G>A	ENST00000360029.3	-	2	1454	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	391						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTAGAGGGGCGATCCAATGTT	0.507										HNSCC(17;0.042)			False	0	False	4:44177058	0	A	44177058	G	A	44177058	3	1	130	1	0	0	0	0	1	0	0	0	8165	1058	37	1	254	1	KCTD8	4	44177058	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		44177058	146977218	17	32776											
IRX2	153572	broad.mit.edu	37	chr5	2749835	2749835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctggtacgggtaggccgCgctgccgtacgggtggtagc	19	10	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:2749835C>T	ENST00000382611.6	-	2	564	c.316G>A	c.(316-318)Gcg>Acg	p.A106T	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.A106T	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	106						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GGGTAGGCCGCGCTGCCGTAC	0.662													False	0	False	5:2749835	0	T	2749835	C	T	2749835	3	4	130	1	0	0	0	0	1	0	0	0	7894	768	27	1	1111	1	IRX2	5	2749835	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		2749835	178165425	18	32777											
AP3B1	8546	broad.mit.edu	37	chr5	77436974	77436974	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atttgcctctcacctgtttgGagttggttaaatacaatttt	7	7	1	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:77436974G>C	ENST00000255194.6	-	15	1818	c.1643C>G	c.(1642-1644)tCc>tGc	p.S548C	AP3B1_ENST00000519295.1_Missense_Mutation_p.S499C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	548					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CACCTGTTTGGAGTTGGTTAA	0.408									Hermansky-Pudlak syndrome				False	0	False	5:77436974	0	C	77436974	G	C	77436974	3	2	130	1	0	0	0	0	1	0	0	0	746	1174	41	5	1693	5	AP3B1	5	77436974	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	74687139	77436974	103478286	19	32778											
PCDHA5	0	broad.mit.edu	37	chr5	140202956	140202956	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtggagctgctgcagttCcaggtgagcgcgcgcgacgc	17	11	0	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:140202956C>T	ENST00000529859.1	+	1	1596	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.F532F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.F532F	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGCAGTTCCAGGTGAGCG	0.692													False	0	False	5:140202956	0	T	140202956	C	T	140202956	2	4	130	1	0	0	0	0	0	0	0	1	11595	854	30	2		2	PCDHA5	5	140202956	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	62765982	140202956	40712304	20	32779											
PCDHB7	0	broad.mit.edu	37	chr5	140553979	140553979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcaggtccctggactaCgaggccctgcaggcgttcga	13	15	1	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:140553979C>T	ENST00000231137.3	+	1	1737	c.1563C>T	c.(1561-1563)taC>taT	p.Y521Y		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		521	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGGACTACGAGGCCCTGC	0.711													False	0	False	5:140553979	0	T	140553979	C	T	140553979	2	4	130	1	0	0	0	0	0	0	0	1	11615	547	19	1		1	PCDHB7	5	140553979	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	351023	140553979	40361281	21	32780											
PCDH1	5097	broad.mit.edu	37	chr5	141248263	141248263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcactgctggcgcgtggGgggctgccgccatcctgcac	17	14	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:141248263G>A	ENST00000287008.3	-	2	921	c.774C>T	c.(772-774)ccC>ccT	p.P258P	PCDH1_ENST00000456271.1_Silent_p.P246P|PCDH1_ENST00000503492.1_Silent_p.P258P|PCDH1_ENST00000394536.3_Silent_p.P258P|PCDH1_ENST00000536585.1_Silent_p.P236P	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	258	Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGCGCGTGGGGGGCTGCCGC	0.607													False	0	True	5:141248263	0	A	141248263	G	A	141248263	2	1	130	1	0	0	0	0	0	0	0	1	11574	1219	43	2		2	PCDH1	5	141248263	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	694284	141248263	39666997	22	32781											
SYCP2L	221711	broad.mit.edu	37	chr6	10894138	10894138	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgcattccatgataaaggAtttcagaaaataaaagaata	7	4	1	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:10894138A>T	ENST00000283141.6	+	3	413	c.117A>T	c.(115-117)ggA>ggT	p.G39G	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	39						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATGATAAAGGATTTCAGAAAA	0.299													False	0	True	6:10894138	0	T	10894138	A	T	10894138	2	4	130	1	0	0	0	0	0	0	0	1	15515	320	12	5		5	SYCP2L	6	10894138	Silent	SNP	A	TCGA-S4-A8RO-01A-12D-A377-08		10894138	160220929	23	32782											
RBM24	221662	broad.mit.edu	37	chr6	17283114	17283114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatggcagaaaggccaacGtgaacctggcatacttagga	12	8	0	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:17283114G>A	ENST00000379052.5	+	2	483	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	RBM24_ENST00000425446.2_Missense_Mutation_p.V25M|RBM24_ENST00000318204.5_Missense_Mutation_p.V38M	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	83	RRM.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			AAAGGCCAACGTGAACCTGGC	0.537													False	0	False	6:17283114	0	A	17283114	G	A	17283114	3	1	130	1	0	0	0	0	1	0	0	0	13203	1145	40	1	286	1	RBM24	6	17283114	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	6388976	17283114	153831953	24	32783											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114499	27114499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgcttgcgcttcttgcCgtccttcttctgcgccttag	10	15	3	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:27114499C>T	ENST00000396891.4	-	1	120	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G27S	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	27					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGCTTCTTGCCGTCCTTCTTC	0.597													False	0	False	6:27114499	0	T	27114499	C	T	27114499	3	4	130	1	0	0	0	0	1	0	0	0	7197	652	23	1	305	1	HIST1H2BK	6	27114499	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	9831385	27114499	144000568	25	32784											
RGL2	5863	broad.mit.edu	37	chr6	33263940	33263940	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggggtccacccgggaccgGagattgcggatgaggtcagc	18	10	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:33263940G>A	ENST00000497454.1	-	6	1128	c.633C>T	c.(631-633)ctC>ctT	p.L211L	RGL2_ENST00000444031.2_Silent_p.L129L|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	211	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCCGGGACCGGAGATTGCGGA	0.662													False	0	False	6:33263940	0	A	33263940	G	A	33263940	2	1	130	1	0	0	0	0	0	0	0	1	13356	1161	41	2		2	RGL2	6	33263940	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	6149441	33263940	137851127	26	32785											
FTSJD2	0	broad.mit.edu	37	chr6	37429865	37429865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctattaccagccgtcctGccaactcagagaggtgaagc	10	13	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:37429865G>A	ENST00000373451.4	+	12	1476	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		438					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						CAGCCGTCCTGCCAACTCAGA	0.463													False	0	False	6:37429865	0	A	37429865	G	A	37429865	3	1	130	1	0	0	0	0	1	0	0	0	6133	1319	46	2	1354	2	FTSJD2	6	37429865	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	4165925	37429865	133685202	27	32786											
DAAM2	23500	broad.mit.edu	37	chr6	39845988	39845988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgccaggctcatcaaCgagaatgaagtgaaacagtg	11	10	2	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:39845988C>T	ENST00000538976.1	+	12	1493	c.1311C>T	c.(1309-1311)aaC>aaT	p.N437N	DAAM2_ENST00000274867.4_Silent_p.N437N|DAAM2_ENST00000398904.2_Silent_p.N437N	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	437					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCTCATCAACGAGAATGAAG	0.547													False	0	False	6:39845988	0	T	39845988	C	T	39845988	2	4	130	1	0	0	0	0	0	0	0	1	4241	535	19	1		1	DAAM2	6	39845988	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	2416123	39845988	131269079	28	32787											
GTPBP2	54676	broad.mit.edu	37	chr6	43593543	43593543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcggtgatcttccgggGcatgtcgctatcataatcca	9	13	2	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:43593543G>A	ENST00000307126.5	-	4	456	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.P65S	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	153							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			ATCTTCCGGGGCATGTCGCTA	0.552													False	0	True	6:43593543	0	A	43593543	G	A	43593543	3	1	130	1	0	0	0	0	1	0	0	0	6927	1203	42	2	1387	2	GTPBP2	6	43593543	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	3747555	43593543	127521524	29	32788											
IGF2R	3482	broad.mit.edu	37	chr6	160465585	160465585	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgggaaaatttatttcctCtcccatgaaagagaaaggaa	8	7	2	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:160465585C>T	ENST00000356956.1	+	13	1809	c.1661C>T	c.(1660-1662)tCt>tTt	p.S554F		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	554					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTTATTTCCTCTCCCATGAAA	0.348													False	0	False	6:160465585	0	T	160465585	C	T	160465585	3	4	130	1	0	0	0	0	1	0	0	0	7626	913	32	2	1711	2	IGF2R	6	160465585	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	116872042	160465585	10649482	30	32789											
C6orf118	168090	broad.mit.edu	37	chr6	165715133	165715133	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaggagatcttgcttggcGagcacttccttctggaaacg	11	10	3	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:165715133G>A	ENST00000543069.1	-	2	947	c.366C>T	c.(364-366)ctC>ctT	p.L122L	C6orf118_ENST00000230301.8_Silent_p.L226L			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	226										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTGCTTGGCGAGCACTTCCT	0.622													False	0	False	6:165715133	0	A	165715133	G	A	165715133	2	1	130	1	0	0	0	0	0	0	0	1	2340	1045	37	1		1	C6orf118	6	165715133	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	5249548	165715133	5399934	31	32790											
RAMP3	10268	broad.mit.edu	37	chr7	45222846	45222846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccagggcttcatcacCggcatccacaggcagttctt	10	15	3	0	rs138821752		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr7:45222846C>T	ENST00000242249.4	+	3	320	c.282C>T	c.(280-282)acC>acT	p.T94T	RAMP3_ENST00000496212.1_Silent_p.T94T|RAMP3_ENST00000481345.1_Silent_p.T94T	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	94					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GCTTCATCACCGGCATCCACA	0.592													False	0	False	7:45222846	0	T	45222846	C	T	45222846	2	4	130	1	0	0	0	0	0	0	0	1	13102	639	23	1		1	RAMP3	7	45222846	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		45222846	113915817	32	32791											
LOXL2	4017	broad.mit.edu	37	chr8	23155589	23155589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggttgtttaagagcccGctgaagtgctcaaacttttt	10	8	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr8:23155589G>A	ENST00000389131.3	-	14	2661	c.2292C>T	c.(2290-2292)agC>agT	p.S764S		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	764					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTAAGAGCCCGCTGAAGTGCT	0.532													False	0	True	8:23155589	0	A	23155589	G	A	23155589	2	1	130	1	0	0	0	0	0	0	0	1	8962	1078	38	1		1	LOXL2	8	23155589	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		23155589	123208433	33	32792											
SQLE	6713	broad.mit.edu	37	chr8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcttcttttgggagacGcatataatatgaggcatcca	10	7	2	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	409					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353													False	0	False	8:126030321	0	A	126030321	G	A	126030321	3	1	130	1	0	0	0	0	1	0	0	0	15210	1087	38	1	1154	1	SQLE	8	126030321	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	102874732	126030321	20333701	34	32793											
CBWD3	445571	broad.mit.edu	37	chr9	70871889	70871889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattagggagtgatatttaCcttgatggtaagttaaaaaa	10	2	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294													False	0	False	9:70871889	0	T	70871889	C	T	70871889	2	4	130	1	0	0	0	0	0	0	0	1	2734	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		70871889	70341542	35	32794											
OR13C3	138803	broad.mit.edu	37	chr9	107298219	107298219	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaatcaggtcttgagacttCggtttcgcatacataaagaa	8	9	2	2	rs145221004		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr9:107298219C>T	ENST00000374781.2	-	1	918	c.876G>A	c.(874-876)ccG>ccA	p.P292P		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTTGAGACTTCGGTTTCGCAT	0.438													False	0	False	9:107298219	0	T	107298219	C	T	107298219	2	4	130	1	0	0	0	0	0	0	0	1	11003	871	31	1		1	OR13C3	9	107298219	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	36426330	107298219	33915212	36	32795											
SUV39H2	79723	broad.mit.edu	37	chr10	14941644	14941644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaattcacagtggatgCggctcgatacggcaatgtgt	13	7	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:14941644C>T	ENST00000313519.5	+	3	1007	c.776C>T	c.(775-777)gCg>gTg	p.A259V	SUV39H2_ENST00000378325.3_Missense_Mutation_p.A139V|SUV39H2_ENST00000354919.6_Missense_Mutation_p.A319V|DCLRE1C_ENST00000378289.4_Intron	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	319	SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						ACAGTGGATGCGGCTCGATAC	0.408													False	0	False	10:14941644	0	T	14941644	C	T	14941644	3	4	130	1	0	0	0	0	1	0	0	0	15495	768	27	1	782	1	SUV39H2	10	14941644	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		14941644	120593103	37	32796											
SORBS1	10580	broad.mit.edu	37	chr10	97096368	97096368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcacttcctggaaaagcGctacccaggggcttgccggg	13	14	1	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:97096368G>A	ENST00000371247.2	-	30	3738	c.3549C>T	c.(3547-3549)agC>agT	p.S1183S	SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371246.2_Silent_p.S1042S|SORBS1_ENST00000371227.4_Silent_p.S1137S|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000277982.5_Silent_p.S1042S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000361941.3_Silent_p.S1183S			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1183					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGGAAAAGCGCTACCCAGGG	0.617													False	0	False	10:97096368	0	A	97096368	G	A	97096368	2	1	130	1	0	0	0	0	0	0	0	1	15007	1078	38	1		1	SORBS1	10	97096368	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	82154724	97096368	38438379	38	32797											
CC2D2B	387707	broad.mit.edu	37	chr10	97791640	97791640	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caattattgatgctgtttatCaaactggaattcactctgct	6	8	3	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:97791640C>T	ENST00000344386.3	+	9	1008	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|CC2D2B_ENST00000410012.2_Nonsense_Mutation_p.Q361*|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	282										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TGCTGTTTATCAAACTGGAAT	0.393													False	0	True	10:97791640	0	T	97791640	C	T	97791640	4	4	130	1	0	0	0	0	0	1	0	0	2749	827	29	2	1119	2	CC2D2B	10	97791640	Nonsense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	695272	97791640	37743107	39	32798											
OR51F2	119694	broad.mit.edu	37	chr11	4843156	4843156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctctttgtcaagaggttgTccttctgcagttctatggtc	10	9	4	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:4843156T>C	ENST00000322110.5	+	1	606	c.541T>C	c.(541-543)Tcc>Ccc	p.S181P	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGAGGTTGTCCTTCTGCAG	0.448													False	0	False	11:4843156	0	C	4843156	T	C	4843156	3	2	130	1	0	0	0	0	1	0	0	0	11165	1667	58	4	543	4	OR51F2	11	4843156	Missense_Mutation	SNP	T	TCGA-S4-A8RO-01A-12D-A377-08		4843156	130163360	40	32799											
OR51G1	79324	broad.mit.edu	37	chr11	4945382	4945382	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagctagcatgcccaagaaaTagtacatgggtccatggaga	11	9	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:4945382T>A	ENST00000321961.2	-	1	255	c.188A>T	c.(187-189)tAt>tTt	p.Y63F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCCAAGAAATAGTACATGGG	0.483													False	0	True	11:4945382	0	A	4945382	T	A	4945382	3	1	130	1	0	0	0	0	1	0	0	0	11166	1406	49	5	779	5	OR51G1	11	4945382	Missense_Mutation	SNP	T	TCGA-S4-A8RO-01A-12D-A377-08	102226	4945382	130061134	41	32800											
OR52H1	390067	broad.mit.edu	37	chr11	5565922	5565922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacatgatgtggaaggtgcGagagacattgtgtccaaagc	13	6	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:5565922G>A	ENST00000322653.4	-	1	857	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAAGGTGCGAGAGACATTG	0.483													False	0	True	11:5565922	0	A	5565922	G	A	5565922	3	1	130	1	0	0	0	0	1	0	0	0	11187	1058	37	1	133	1	OR52H1	11	5565922	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	620540	5565922	129440594	42	32801											
OR10A5	144124	broad.mit.edu	37	chr11	6867677	6867677	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtctctcttttctatatatCttctagcctcacctacttct	2	13	7	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:6867677C>G	ENST00000299454.4	+	1	795	c.764C>G	c.(763-765)tCt>tGt	p.S255C	OR10A5_ENST00000379831.2_Missense_Mutation_p.S259C			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCTATATATCTTCTAGCCTC	0.433													False	0	True	11:6867677	0	G	6867677	C	G	6867677	3	3	130	1	0	0	0	0	1	0	0	0	10961	913	32	5	766	5	OR10A5	11	6867677	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	1301755	6867677	128138839	43	32802											
KBTBD4	55709	broad.mit.edu	37	chr11	47595092	47595094	+	In_Frame_Del	DEL	CGA	CGA	-													gggtgtgctggagccggtccCgaggcaaaggagcacaccac							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	CGA	CGA	-	-	CGA	CGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:47595092_47595094delCGA	ENST00000526005.1	-	4	1098_1100	c.945_947delTCG	c.(943-948)cctcgg>ccg	p.R316del	NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000533290.1_In_Frame_Del_p.R341del|KBTBD4_ENST00000395288.2_In_Frame_Del_p.R316del|KBTBD4_ENST00000430070.2_In_Frame_Del_p.R332del			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	316										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GAGCCGGTCCCGAGGCAAAGGAG	0.571													False	1	True	11:47595092	0	-	47595094	CGA	-	47595092	7	5	130	1	0	1	0	1	0	0	0	0	8045	652	23	0	613	0	KBTBD4	11	47595092	In_Frame_Del	DEL	CGA	TCGA-S4-A8RO-01A-12D-A377-08	40727415	47595092	87411424	44	32803											
RPS6KB2	6199	broad.mit.edu	37	chr11	67200423	67200423	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccaacacccttcctcagGccacatcaaactgaccgact	4	18	3	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:67200423G>A	ENST00000312629.5	+	8	662	c.616_splice	c.e8-1	p.G206_splice	RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	206	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCTTCCTCAGGCCACATCAAA	0.612													False	0	False	11:67200423	0	A	67200423	G	A	67200423	5	1	130	1	0	0	0	0	0	0	1	0	13736	1217	42	2	647	2	RPS6KB2	11	67200423	Splice_Site	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	19605331	67200423	67806093	45	32804											
NOX4	50507	broad.mit.edu	37	chr11	89088203	89088203	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaggcagtagtaaatctcGaaatcgttctgtcaaaagaa	10	6	3	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:89088203G>A	ENST00000535633.1	-	13	1382	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	NOX4_ENST00000532825.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000424319.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000534731.1_Nonsense_Mutation_p.R382*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.R357*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.R358*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Nonsense_Mutation_p.R403*|NOX4_ENST00000531342.1_Nonsense_Mutation_p.R75*|NOX4_ENST00000263317.4_Nonsense_Mutation_p.R382*|NOX4_ENST00000375979.3_Nonsense_Mutation_p.R75*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.R216*	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	382	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.R382*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTAAATCTCGAAATCGTTCT	0.328													False	0	True	11:89088203	0	A	89088203	G	A	89088203	4	1	130	1	0	0	0	0	0	1	0	0	10626	1066	37	1	616	1	NOX4	11	89088203	Nonsense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	21887780	89088203	45918313	46	32805											
ANGPTL5	253935	broad.mit.edu	37	chr11	101773403	101773403	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attatgtataaaccactcggTgttttggtgacagagccaat	9	7	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:101773403T>C	ENST00000334289.3	-	6	1084	c.489A>G	c.(487-489)acA>acG	p.T163T		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	163	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AACCACTCGGTGTTTTGGTGA	0.353													False	0	False	11:101773403	0	C	101773403	T	C	101773403	2	2	130	1	0	0	0	0	0	0	0	1	617	1683	59	4		4	ANGPTL5	11	101773403	Silent	SNP	T	TCGA-S4-A8RO-01A-12D-A377-08	12685200	101773403	33233113	47	32806											
PKNOX2	63876	broad.mit.edu	37	chr11	125299995	125299995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactccatcgctgcggggGtgctgcagcagcagggcggt	16	13	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:125299995G>A	ENST00000298282.9	+	12	1421	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	PKNOX2_ENST00000542175.1_Missense_Mutation_p.V320M|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	384						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CGCTGCGGGGGTGCTGCAGCA	0.622													False	0	True	11:125299995	0	A	125299995	G	A	125299995	3	1	130	1	0	0	0	0	1	0	0	0	12052	1261	44	2	1184	2	PKNOX2	11	125299995	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	23526592	125299995	9706521	48	32807											
B4GALNT3	283358	broad.mit.edu	37	chr12	653515	653515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgcagttccggggccGtgccaacctgcatgtgtttg	13	14	0	0	rs141528374		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:653515G>A	ENST00000266383.5	+	4	375	c.362G>A	c.(361-363)cGt>cAt	p.R121H	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	121						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTCCGGGGCCGTGCCAACCTG	0.627													False	0	False	12:653515	0	A	653515	G	A	653515	3	1	130	1	0	0	0	0	1	0	0	0	1272	1145	40	1	376	1	B4GALNT3	12	653515	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		653515	133198380	49	32808											
KCNA5	3741	broad.mit.edu	37	chr12	5153999	5153999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggagaagcccctgccccGcaacgagttccagcgccagg	13	15	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:5153999G>A	ENST00000252321.3	+	1	915	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	229						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CCCCTGCCCCGCAACGAGTTC	0.607													False	0	True	12:5153999	0	A	5153999	G	A	5153999	3	1	130	1	0	0	0	0	1	0	0	0	8056	1087	38	1	688	1	KCNA5	12	5153999	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	4500484	5153999	128697896	50	32809											
KRAS	3845	broad.mit.edu	37	chr12	25362826	25362826	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatttctcgaactaatgtaTagaaggcatcatcaacaccc	6	10	3	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:25362826T>C	ENST00000311936.3	-	5	661	c.470A>G	c.(469-471)tAt>tGt	p.Y157C	KRAS_ENST00000256078.4_3'UTR|KRAS_ENST00000557334.1_Missense_Mutation_p.Y44C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	157					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			AACTAATGTATAGAAGGCATC	0.284		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25362826	0	C	25362826	T	C	25362826	3	2	130	1	0	0	0	0	1	0	0	0	8488	1406	49	4	100	4	KRAS	12	25362826	Missense_Mutation	SNP	T	TCGA-S4-A8RO-01A-12D-A377-08	20208827	25362826	108489069	51	32810											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	130	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	35458	25398284	108453611	52	32811											
SYT10	341359	broad.mit.edu	37	chr12	33538128	33538128	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgagccagtaatatccatCgccttcagatttctgcactt	7	11	2	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:33538128C>T	ENST00000228567.3	-	4	1472	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	SYT10_ENST00000535526.1_Silent_p.A211A	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	392	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TAATATCCATCGCCTTCAGAT	0.413													False	0	False	12:33538128	0	T	33538128	C	T	33538128	2	4	130	1	0	0	0	0	0	0	0	1	15548	871	31	1		1	SYT10	12	33538128	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	8139844	33538128	100313767	53	32812											
PDZRN4	29951	broad.mit.edu	37	chr12	41966704	41966704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcatgatggaggattccGgaattataacaccagcatag	10	7	0	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:41966704G>A	ENST00000298919.7	+	10	1731	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q	PDZRN4_ENST00000402685.2_Missense_Mutation_p.R708Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R450Q			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	708	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GGAGGATTCCGGAATTATAAC	0.443													False	0	False	12:41966704	0	A	41966704	G	A	41966704	3	1	130	1	0	0	0	0	1	0	0	0	11778	1116	39	1	2234	1	PDZRN4	12	41966704	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	8428576	41966704	91885191	54	32813											
KRT1	3848	broad.mit.edu	37	chr12	53069133	53069133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagctgccgccgccgccGcctccagagccacctctgta	10	20	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:53069133G>A	ENST00000252244.3	-	9	1837	c.1779C>T	c.(1777-1779)ggC>ggT	p.G593G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	593	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.G593G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						cgccgccgccgcctccagagc	0.721													False	0	True	12:53069133	0	A	53069133	G	A	53069133	2	1	130	1	0	0	0	0	0	0	0	1	8497	1074	38	1		1	KRT1	12	53069133	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	11102429	53069133	80782762	55	32814											
ATP2B1	490	broad.mit.edu	37	chr12	90036041	90036041	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatgcttcccatactaaTtgaagaaaggtttttggctt	8	6	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:90036041T>A	ENST00000428670.3	-	3	756	c.300A>T	c.(298-300)caA>caT	p.Q100H	ATP2B1_ENST00000261173.2_Missense_Mutation_p.Q100H|ATP2B1_ENST00000359142.3_Missense_Mutation_p.Q100H|ATP2B1_ENST00000348959.3_Missense_Mutation_p.Q100H			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	100					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCCATACTAATTGAAGAAAGG	0.343													False	0	False	12:90036041	0	A	90036041	T	A	90036041	3	1	130	1	0	0	0	0	1	0	0	0	1143	1490	52	5	3596	5	ATP2B1	12	90036041	Missense_Mutation	SNP	T	TCGA-S4-A8RO-01A-12D-A377-08	36966908	90036041	43815854	56	32815											
DNAH10	196385	broad.mit.edu	37	chr12	124317833	124317833	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcagatttgtggggcCttttctgcaaactgttcaca	11	8	2	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:124317833C>A	ENST00000409039.3	+	26	4389	c.4364C>A	c.(4363-4365)cCt>cAt	p.P1455H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1455	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTGTGGGGCCTTTTCTGCAA	0.433													False	0	True	12:124317833	0	A	124317833	C	A	124317833	3	1	130	1	0	0	0	0	1	0	0	0	4628	681	24	3	4466	3	DNAH10	12	124317833	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	34281792	124317833	9534062	57	32816											
TUBA3C	7278	broad.mit.edu	37	chr13	19751734	19751734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaagccctgcagtcccGtgcacagatccgcctgaggg	14	13	0	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:19751734G>A	ENST00000400113.3	-	4	493	c.389C>T	c.(388-390)aCg>aTg	p.T130M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	130					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGCAGTCCCGTGCACAGATC	0.582													False	0	True	13:19751734	0	A	19751734	G	A	19751734	3	1	130	1	0	0	0	0	1	0	0	0	16830	1145	40	1	971	1	TUBA3C	13	19751734	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		19751734	95418144	58	32817											
PABPC3	5042	broad.mit.edu	37	chr13	25671262	25671262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggtattgatgatgaacGtctccggaaagcgttttctc	11	7	2	4			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:25671262G>A	ENST00000281589.3	+	1	963	c.926G>A	c.(925-927)cGt>cAt	p.R309H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	309	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GATGATGAACGTCTCCGGAAA	0.408													False	0	False	13:25671262	0	A	25671262	G	A	25671262	3	1	130	1	0	0	0	0	1	0	0	0	11433	1145	40	1	928	1	PABPC3	13	25671262	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	5919528	25671262	89498616	59	32818											
ACIN1	22985	broad.mit.edu	37	chr14	23531399	23531399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttgctcggcatagtcaGcacaaaggaatttgggattg	11	8	2	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:23531399G>A	ENST00000262710.1	-	16	3578	c.3251C>T	c.(3250-3252)gCt>gTt	p.A1084V	ACIN1_ENST00000605057.1_Missense_Mutation_p.A1026V|ACIN1_ENST00000557515.1_Missense_Mutation_p.A325V|ACIN1_ENST00000457657.1_Missense_Mutation_p.A1044V|ACIN1_ENST00000357481.2_Missense_Mutation_p.A326V|ACIN1_ENST00000555053.1_Missense_Mutation_p.A1071V|ACIN1_ENST00000397341.3_Missense_Mutation_p.A326V|ACIN1_ENST00000338631.6_Missense_Mutation_p.A357V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1084					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGCATAGTCAGCACAAAGGAA	0.537													False	0	False	14:23531399	0	A	23531399	G	A	23531399	3	1	130	1	0	0	0	0	1	0	0	0	142	971	34	2	790	2	ACIN1	14	23531399	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		23531399	83818141	60	32819											
ZFYVE26	23503	broad.mit.edu	37	chr14	68238816	68238816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatactctcagtctcatccGgtacccactggtgcctggca	9	14	2	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:68238816G>A	ENST00000347230.4	-	28	5570	c.5432C>T	c.(5431-5433)cCg>cTg	p.P1811L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1811L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1811					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGTCTCATCCGGTACCCACTG	0.562													False	0	False	14:68238816	0	A	68238816	G	A	68238816	3	1	130	1	0	0	0	0	1	0	0	0	17751	1116	39	1	2247	1	ZFYVE26	14	68238816	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	44707417	68238816	39110724	61	32820											
ZFYVE26	23503	broad.mit.edu	37	chr14	68260952	68260952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtttgaacctctgtctcgGccatctacaggtattgggaa	12	9	3	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:68260952G>A	ENST00000347230.4	-	13	2475	c.2337C>T	c.(2335-2337)ggC>ggT	p.G779G	ZFYVE26_ENST00000555452.1_Silent_p.G779G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	779					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTCTGTCTCGGCCATCTACAG	0.458													False	0	False	14:68260952	0	A	68260952	G	A	68260952	2	1	130	1	0	0	0	0	0	0	0	1	17751	1190	42	2		2	ZFYVE26	14	68260952	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	22136	68260952	39088588	62	32821											
GALC	2581	broad.mit.edu	37	chr14	88411975	88411975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctggttgagaacttggCgtagcgtgaagtgatgctcg	15	7	1	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:88411975C>T	ENST00000261304.2	-	14	1698	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	GALC_ENST00000393568.4_Missense_Mutation_p.R508H|GALC_ENST00000393569.2_Missense_Mutation_p.R505H|GALC_ENST00000544807.2_Missense_Mutation_p.R475H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	531			R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity).		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGAACTTGGCGTAGCGTGAA	0.408													False	0	False	14:88411975	0	T	88411975	C	T	88411975	3	4	130	1	0	0	0	0	1	0	0	0	6244	768	27	1	481	1	GALC	14	88411975	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	20151023	88411975	18937565	63	32822											
PPP2R5C	5527	broad.mit.edu	37	chr14	102360847	102360847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttttactttttagctgGcatactgtgtagtgcagttt	8	8	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:102360847G>A	ENST00000422945.2	+	10	991	c.895G>A	c.(895-897)Gca>Aca	p.A299T	PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A268T|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.A323T|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.A268T	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	268					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTTTTAGCTGGCATACTGTGT	0.403													False	0	False	14:102360847	0	A	102360847	G	A	102360847	3	1	130	1	0	0	0	0	1	0	0	0	12468	1203	42	2	1201	2	PPP2R5C	14	102360847	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	13948872	102360847	4988693	64	32823											
CILP	8483	broad.mit.edu	37	chr15	65489789	65489789	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattccatcggctttggCcaccatgccagatagtcttc	8	13	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr15:65489789C>T	ENST00000261883.4	-	9	3001	c.2835G>A	c.(2833-2835)tgG>tgA	p.W945*		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	945					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCGGCTTTGGCCACCATGCCA	0.532													False	0	False	15:65489789	0	T	65489789	C	T	65489789	4	4	130	1	0	0	0	0	0	1	0	0	3452	740	26	2	723	2	CILP	15	65489789	Nonsense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		65489789	37041603	65	32824											
IFT140	9742	broad.mit.edu	37	chr16	1612009	1612009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtgaagtagtaataagGcacttccatccccaggagac	9	10	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:1612009G>A	ENST00000426508.2	-	18	2539	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	726										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TAGTAATAAGGCACTTCCATC	0.557													False	0	False	16:1612009	0	A	1612009	G	A	1612009	3	1	130	1	0	0	0	0	1	0	0	0	7606	1203	42	2	2268	2	IFT140	16	1612009	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		1612009	88742744	66	32825											
NUDT21	11051	broad.mit.edu	37	chr16	56468701	56468701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagaaacaacttcttaTgttccttaggctttgtaata	6	8	1	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:56468701T>C	ENST00000300291.5	-	5	684	c.512A>G	c.(511-513)cAt>cGt	p.H171R		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	171	Nudix hydrolase.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						CAACTTCTTATGTTCCTTAGG	0.303													False	0	False	16:56468701	0	C	56468701	T	C	56468701	3	2	130	1	0	0	0	0	1	0	0	0	10806	1464	51	4	183	4	NUDT21	16	56468701	Missense_Mutation	SNP	T	TCGA-S4-A8RO-01A-12D-A377-08	54856692	56468701	33886052	67	32826											
RSPRY1	89970	broad.mit.edu	37	chr16	57238646	57238646	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgttgactctcgaagagCacatagcccacttcctaggg	10	11	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:57238646C>A	ENST00000537866.1	+	2	949	c.76C>A	c.(76-78)Cac>Aac	p.H26N	RSPRY1_ENST00000394420.4_Missense_Mutation_p.H26N			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	26						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TCTCGAAGAGCACATAGCCCA	0.502													False	0	False	16:57238646	0	A	57238646	C	A	57238646	3	1	130	1	0	0	0	0	1	0	0	0	13792	710	25	3	78	3	RSPRY1	16	57238646	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	769945	57238646	33116107	68	32827											
NRN1L	123904	broad.mit.edu	37	chr16	67920029	67920029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgccccggtgcatgttcGggagcgcggcacaggctccg	17	14	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:67920029G>A	ENST00000339176.3	+	3	464	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	CTC-479C5.10_ENST00000572067.1_RNA|NRN1L_ENST00000576147.1_Missense_Mutation_p.G49R	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	122						anchored to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GTGCATGTTCGGGAGCGCGGC	0.667													False	0	True	16:67920029	0	A	67920029	G	A	67920029	3	1	130	1	0	0	0	0	1	0	0	0	10727	1116	39	1	375	1	NRN1L	16	67920029	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	10681383	67920029	22434724	69	32828											
PLD2	5338	broad.mit.edu	37	chr17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttatcccggacttgggccGcaaaggactgtgagtgtctg	13	10	1	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567													False	0	False	17:4712837	0	A	4712837	G	A	4712837	3	1	130	1	0	0	0	0	1	0	0	0	12115	1087	38	1	627	1	PLD2	17	4712837	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		4712837	76482373	70	32829											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	9	16	3	0	rs28934574		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			False	0	False	17:7577094	0	A	7577094	G	A	7577094	3	1	130	1	0	0	0	0	1	0	0	0	16464	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	2864257	7577094	73618116	71	32830											
GPR179	440435	broad.mit.edu	37	chr17	36485458	36485458	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggagctgacccaggggAcagacctcctcgatcggcac	13	14	0	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:36485458A>G	ENST00000342292.4	-	11	4014	c.3994T>C	c.(3994-3996)Tcc>Ccc	p.S1332P		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1332						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GACCCAGGGGACAGACCTCCT	0.607													False	0	True	17:36485458	0	G	36485458	A	G	36485458	3	3	130	1	0	0	0	0	1	0	0	0	6720	275	10	4	3113	4	GPR179	17	36485458	Missense_Mutation	SNP	A	TCGA-S4-A8RO-01A-12D-A377-08	28908364	36485458	44709752	72	32831											
KRTAP4-3	85290	broad.mit.edu	37	chr17	39324213	39324213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaatgcagcagctggggCggcagcaggtggtcctgcag	18	9	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:39324213C>T	ENST00000391356.2	-	1	211	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	71	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			gcagctggggcggcagcaggt	0.637													False	0	True	17:39324213	0	T	39324213	C	T	39324213	3	4	130	1	0	0	0	0	1	0	0	0	8603	768	27	1	379	1	KRTAP4-3	17	39324213	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	2838755	39324213	41870997	73	32832											
KRT34	3885	broad.mit.edu	37	chr17	39537409	39537409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcatccaggatcctgcGtatgctgttgatgtccgact	10	12	1	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:39537409G>A	ENST00000394001.1	-	3	643	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGATCCTGCGTATGCTGTTG	0.562													False	0	False	17:39537409	0	A	39537409	G	A	39537409	3	1	130	1	0	0	0	0	1	0	0	0	8521	1145	40	1	717	1	KRT34	17	39537409	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	213196	39537409	41657801	74	32833											
PTRF	284119	broad.mit.edu	37	chr17	40557353	40557353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttctctggcagcgcctcCgactctttcagcgatttgct	8	15	3	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:40557353C>T	ENST00000357037.5	-	2	944	c.525G>A	c.(523-525)tcG>tcA	p.S175S		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	175					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	p.S175S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GCAGCGCCTCCGACTCTTTCA	0.647													False	0	False	17:40557353	0	T	40557353	C	T	40557353	2	4	130	1	0	0	0	0	0	0	0	1	12894	639	23	1		1	PTRF	17	40557353	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	1019944	40557353	40637857	75	32834											
RPS6KB1	6198	broad.mit.edu	37	chr17	58009016	58009016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatctccatggctttgggGcatttacatcaaaaggggat	11	7	2	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:58009016G>A	ENST00000225577.4	+	7	642	c.621G>A	c.(619-621)ggG>ggA	p.G207G	RPS6KB1_ENST00000406116.3_Silent_p.G207G|RPS6KB1_ENST00000393021.3_Silent_p.G154G|RPS6KB1_ENST00000443572.2_Silent_p.G184G	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	207	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGGCTTTGGGGCATTTACATC	0.368													False	0	True	17:58009016	0	A	58009016	G	A	58009016	2	1	130	1	0	0	0	0	0	0	0	1	13735	1190	42	2		2	RPS6KB1	17	58009016	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	17451663	58009016	23186194	76	32835											
NDUFV2	4729	broad.mit.edu	37	chr18	9122540	9122540	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttttacaagtacctccaatGagagtatatgaagtagcaac	8	7	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr18:9122540G>A	ENST00000400033.1	+	6	456	c.339G>A	c.(337-339)atG>atA	p.M113I	RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000582375.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.M110I			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	110					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	TACCTCCAATGAGAGTATATG	0.328													False	0	False	18:9122540	0	A	9122540	G	A	9122540	3	1	130	1	0	0	0	0	1	0	0	0	10368	1290	45	2	348	2	NDUFV2	18	9122540	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		9122540	68954708	77	32836											
DSC3	1825	broad.mit.edu	37	chr18	28610959	28610959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttctgatgttctagcaGcacagtaacctctttctgtg	7	11	5	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr18:28610959G>A	ENST00000434452.1	-	3	488	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	DSC3_ENST00000360428.4_Silent_p.L112L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	112					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTTCTAGCAGCACAGTAACC	0.338													False	0	False	18:28610959	0	A	28610959	G	A	28610959	2	1	130	1	0	0	0	0	0	0	0	1	4797	962	34	2		2	DSC3	18	28610959	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	19488419	28610959	49466289	78	32837											
KEAP1	9817	broad.mit.edu	37	chr19	10610147	10610147	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caatctgctcagcgaagttgGcgatgccgatggcattgctg	13	10	2	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:10610147G>C	ENST00000171111.5	-	2	1110	c.563C>G	c.(562-564)gCc>gGc	p.A188G	KEAP1_ENST00000393623.2_Missense_Mutation_p.A188G|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	188	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AGCGAAGTTGGCGATGCCGAT	0.597													False	0	False	19:10610147	0	C	10610147	G	C	10610147	3	2	130	1	0	0	0	0	1	0	0	0	8191	1203	42	5	1331	5	KEAP1	19	10610147	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		10610147	48518836	79	32838											
UNC13A	23025	broad.mit.edu	37	chr19	17766751	17766751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgcaggcaccttgtcGggcgtggctggcttgggggc	18	11	1	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:17766751G>A	ENST00000428389.2	-	11	1487	c.1488C>T	c.(1486-1488)ccC>ccT	p.P496P	UNC13A_ENST00000552293.1_Silent_p.P408P|UNC13A_ENST00000551649.1_Silent_p.P408P|UNC13A_ENST00000550896.1_Silent_p.P408P|UNC13A_ENST00000519716.2_Silent_p.P408P|UNC13A_ENST00000252773.7_Silent_p.P408P			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	408					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCACCTTGTCGGGCGTGGCTG	0.692													False	0	True	19:17766751	0	A	17766751	G	A	17766751	2	1	130	1	0	0	0	0	0	0	0	1	17068	1103	39	1		1	UNC13A	19	17766751	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	7156604	17766751	41362232	80	32839											
UPF1	5976	broad.mit.edu	37	chr19	18971174	18971174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttccagtggccccaacccGataaaccgatgttcttctac	6	15	2	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:18971174G>A	ENST00000262803.5	+	16	2499	c.2227G>A	c.(2227-2229)Gat>Aat	p.D743N	UPF1_ENST00000599848.1_Missense_Mutation_p.D754N	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	754					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCCCAACCCGATAAACCGAT	0.572													False	0	True	19:18971174	0	A	18971174	G	A	18971174	3	1	130	1	0	0	0	0	1	0	0	0	17087	1058	37	1	2289	1	UPF1	19	18971174	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	1204423	18971174	40157809	81	32840											
FXYD3	5349	broad.mit.edu	37	chr19	35613737	35613737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccatgggcatcatcatcGtcatgagtgagtggaggagc	15	9	3	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:35613737G>A	ENST00000435734.2	+	7	425	c.166G>A	c.(166-168)Gtc>Atc	p.V56I	FXYD3_ENST00000406988.1_Missense_Mutation_p.V56I|FXYD3_ENST00000406242.3_Missense_Mutation_p.V56I|FXYD3_ENST00000346446.5_Missense_Mutation_p.V56I|FXYD3_ENST00000344013.6_Missense_Mutation_p.V56I|FXYD3_ENST00000604621.1_Missense_Mutation_p.V56I|FXYD3_ENST00000603181.1_Missense_Mutation_p.V56I|FXYD3_ENST00000603524.1_Missense_Mutation_p.V85I|FXYD3_ENST00000604255.1_Missense_Mutation_p.V113I|FXYD3_ENST00000605677.1_Missense_Mutation_p.V56I|FXYD3_ENST00000535103.1_Missense_Mutation_p.V113I|FXYD3_ENST00000604804.1_Missense_Mutation_p.V85I|FXYD3_ENST00000604404.1_Missense_Mutation_p.V56I|FXYD3_ENST00000605550.1_Missense_Mutation_p.V56I	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	56						chloride channel complex|integral to plasma membrane	chloride channel activity	p.V56L(1)		endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CATCATCATCGTCATGAGTGA	0.637													False	0	True	19:35613737	0	A	35613737	G	A	35613737	3	1	130	1	0	0	0	0	1	0	0	0	6161	1145	40	1	448	1	FXYD3	19	35613737	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	16642563	35613737	23515246	82	32841											
HAUS5	23354	broad.mit.edu	37	chr19	36105981	36105981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaagctgctgtgacccGcctgcgggcagaaatccagg	15	12	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:36105981G>A	ENST00000203166.5	+	5	282	c.257G>A	c.(256-258)cGc>cAc	p.R86H	HAUS5_ENST00000379045.2_Missense_Mutation_p.R86H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	86					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GCTGTGACCCGCCTGCGGGCA	0.607													False	0	True	19:36105981	0	A	36105981	G	A	36105981	3	1	130	1	0	0	0	0	1	0	0	0	7016	1087	38	1	275	1	HAUS5	19	36105981	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	492244	36105981	23023002	83	32842											
PSG7	5676	broad.mit.edu	37	chr19	43433817	43433817	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttaaaatcacagcctcCgtggcctccctggggttgaa	11	12	1	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:43433817C>T	ENST00000406070.2	-	0	582				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TCACAGCCTCCGTGGCCTCCC	0.532													False	0	False	19:43433817	0	T	43433817	C	T	43433817	1	4	130	0	1	0	0	0	0	0	0	0	12736	639	23	1		1	PSG7	19	43433817	RNA	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	7327836	43433817	15695166	84	32843											
HIF3A	64344	broad.mit.edu	37	chr19	46807230	46807230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaggagaccgaggtgctGtaccagctggctcacacgct	13	13	1	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:46807230G>A	ENST00000244303.6	+	2	201	c.41G>A	c.(40-42)tGt>tAt	p.C14Y	HIF3A_ENST00000420102.2_Missense_Mutation_p.C32Y|HIF3A_ENST00000339613.2_5'UTR|HIF3A_ENST00000377670.4_Silent_p.L34L|HIF3A_ENST00000300862.3_Silent_p.L32L|HIF3A_ENST00000472815.1_Missense_Mutation_p.C14Y|HIF3A_ENST00000600383.1_Missense_Mutation_p.C14Y	NM_022462.4	NP_071907.4	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCGAGGTGCTGTACCAGCTGG	0.672													False	0	False	19:46807230	0	A	46807230	G	A	46807230	3	1	130	1	0	0	0	0	1	0	0	0	7152	1364	48	2	132	2	HIF3A	19	46807230	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	3373413	46807230	12321753	85	32844											
LILRA1	11024	broad.mit.edu	37	chr19	55107243	55107243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaacgtgacttcctccaGctccctggcccacagcccca	9	18	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:55107243G>A	ENST00000251372.3	+	6	983	c.801G>A	c.(799-801)caG>caA	p.Q267Q	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	267	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L268I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACTTCCTCCAGCTCCCTGGCC	0.607													False	0	False	19:55107243	0	A	55107243	G	A	55107243	2	1	130	1	0	0	0	0	0	0	0	1	8836	962	34	2		2	LILRA1	19	55107243	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	8300013	55107243	4021740	86	32845											
PPP1R16B	26051	broad.mit.edu	37	chr20	37547257	37547257	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccactcttaaagttcaaggCccccatagaggagatggagg	11	11	2	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:37547257C>G	ENST00000299824.1	+	11	1841	c.1652C>G	c.(1651-1653)gCc>gGc	p.A551G	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A509G	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	551					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAGTTCAAGGCCCCCATAGAG	0.572													False	0	True	20:37547257	0	G	37547257	C	G	37547257	3	3	130	1	0	0	0	0	1	0	0	0	12440	739	26	5	1690	5	PPP1R16B	20	37547257	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		37547257	25478263	87	32846											
RIMS4	140730	broad.mit.edu	37	chr20	43386349	43386349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcttggctgtcagtcccCgagcctggataatgtccacc	11	14	1	0	rs141614672	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:43386349C>T	ENST00000372851.3	-	4	479	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	RIMS4_ENST00000541604.2_Missense_Mutation_p.R139Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	138	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.R138Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TGTCAGTCCCCGAGCCTGGAT	0.597													False	0	True	20:43386349	0	T	43386349	C	T	43386349	3	4	130	1	0	0	0	0	1	0	0	0	13449	652	23	1	408	1	RIMS4	20	43386349	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	5839092	43386349	19639171	88	32847											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-													atgcagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55													False	1	True	20:46279833	0	-	46279834	GC	-	46279833	7	5	130	1	0	1	0	1	0	0	0	0	10298	962	34	0	3859	0	NCOA3	20	46279833	Frame_Shift_Del	DEL	GC	TCGA-S4-A8RO-01A-12D-A377-08	2893484	46279833	16745687	89	32848											
ZNF831	128611	broad.mit.edu	37	chr20	57769643	57769643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtggtgttgcctgagccGcagtgtccctctgcccgcgg	14	15	1	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:57769643G>A	ENST00000371030.2	+	1	3569	c.3569G>A	c.(3568-3570)cGc>cAc	p.R1190H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1190						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCTGAGCCGCAGTGTCCCT	0.647													False	0	False	20:57769643	0	A	57769643	G	A	57769643	3	1	130	1	0	0	0	0	1	0	0	0	18267	1087	38	1	3571	1	ZNF831	20	57769643	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	11489810	57769643	5255877	90	32849											
SLCO4A1	28231	broad.mit.edu	37	chr20	61300301	61300301	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggggcatcccggggcccatCgccttcggctgggtgatcga	17	13	0	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:61300301C>T	ENST00000217159.1	+	11	2101	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	SLCO4A1_ENST00000370507.1_Silent_p.I632I|SLCO4A1_ENST00000470412.1_3'UTR	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	632					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CGGGGCCCATCGCCTTCGGCT	0.662											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	20:61300301	0	T	61300301	C	T	61300301	2	4	130	1	0	0	0	0	0	0	0	1	14809	874	31	1		1	SLCO4A1	20	61300301	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	3530658	61300301	1725219	91	32850											
TPTE	7179	broad.mit.edu	37	chr21	10942745	10942745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtctaggtcaaatccatcCcttgtgtatcgccttttgtt	8	10	2	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr21:10942745C>A	ENST00000298232.7	-	12	1009	c.642G>T	c.(640-642)agG>agT	p.R214S	TPTE_ENST00000361285.4_Missense_Mutation_p.R232S|TPTE_ENST00000342420.5_Missense_Mutation_p.R194S|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	232					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAATCCATCCCTTGTGTATC	0.308													False	0	True	21:10942745	0	A	10942745	C	A	10942745	3	1	130	1	0	0	0	0	1	0	0	0	16513	622	22	3	1007	3	TPTE	21	10942745	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		10942745	37187150	92	32851											
ACRC	93953	broad.mit.edu	37	chrX	70823926	70823926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgattcggaagctcccgacGacagcagtgatgattcggaa	12	9	0	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:70823926G>A	ENST00000373695.1	+	7	1336	c.799G>A	c.(799-801)Gac>Aac	p.D267N	ACRC_ENST00000373696.3_Missense_Mutation_p.D267N			Q96QF7	ACRC_HUMAN	acidic repeat containing	267	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGCTCCCGACGACAGCAGTGA	0.557													False	0	False	X:70823926	0	A	70823926	G	A	70823926	3	1	130	1	0	0	0	0	1	0	0	0	171	1058	37	1	825	1	ACRC	23	70823926	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		70823926	84446634	93	32852											
NAP1L2	4674	broad.mit.edu	37	chrX	72434324	72434324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcggttctctgactcgGccatttttcaaaggaccgta	9	12	2	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:72434324G>A	ENST00000373517.3	-	1	360	c.5C>T	c.(4-6)gCc>gTc	p.A2V	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	2					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCTGACTCGGCCATTTTTCA	0.532													False	0	False	X:72434324	0	A	72434324	G	A	72434324	3	1	130	1	0	0	0	0	1	0	0	0	10224	1203	42	2	1381	2	NAP1L2	23	72434324	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	1610398	72434324	82836236	94	32853											
FAM133A	286499	broad.mit.edu	37	chrX	92964906	92964906	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtaaaaaagaaaaagaagtCaaaggatgaaacagagaaag	10	2	1	4			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:92964906C>G	ENST00000538690.1	+	5	1049	c.488C>G	c.(487-489)tCa>tGa	p.S163*	FAM133A_ENST00000355813.5_Nonsense_Mutation_p.S163*|FAM133A_ENST00000332647.4_Nonsense_Mutation_p.S163*|FAM133A_ENST00000322139.4_Nonsense_Mutation_p.S163*	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	163	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAAAGAAGTCAAAGGATGAA	0.363													False	0	True	X:92964906	0	G	92964906	C	G	92964906	4	3	130	1	0	0	0	0	0	1	0	0	5479	838	29	5	490	5	FAM133A	23	92964906	Nonsense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	20530582	92964906	62305654	95	32854											
IRS4	8471	broad.mit.edu	37	chrX	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-													ctgctgctagagctgccgctGccgccgctgctgcacctctt					rs2073114	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616													False	2	True	X:107979510	0	-	107979512	GCC	-	107979510	7	5	130	1	0	1	0	1	0	0	0	0	7892	1319	46	0	3712	0	IRS4	23	107979510	In_Frame_Del	DEL	GCC	TCGA-S4-A8RO-01A-12D-A377-08	15014604	107979510	47291050	96	32855											
DCX	1641	broad.mit.edu	37	chrX	110644391	110644391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtaaccagcttggggcGcacaaagtccttgttctccc	11	12	1	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:110644391G>A	ENST00000338081.3	-	3	946	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.R178C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	259			R -> C (in SBHX).|R -> L (in SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.R178C(1)|p.R259C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCTTGGGGCGCACAAAGTCC	0.537													False	0	False	X:110644391	0	A	110644391	G	A	110644391	3	1	130	1	0	0	0	0	1	0	0	0	4343	1087	38	1	585	1	DCX	23	110644391	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	2664881	110644391	44626169	97	32856											
BCORL1	63035	broad.mit.edu	37	chrX	129190051	129190051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggagctggtgcggtaCgagccagacctacttcggct	14	11	0	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:129190051C>T	ENST00000540052.1	+	12	5120	c.5076C>T	c.(5074-5076)taC>taT	p.Y1692Y	BCORL1_ENST00000218147.7_Silent_p.Y1692Y|BCORL1_ENST00000303743.5_Silent_p.Y1766Y|BCORL1_ENST00000359304.2_Silent_p.Y1562Y	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1692					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGTGCGGTACGAGCCAGACC	0.607													False	0	False	X:129190051	0	T	129190051	C	T	129190051	2	4	130	1	0	0	0	0	0	0	0	1	1391	547	19	1		1	BCORL1	23	129190051	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	18545660	129190051	26080509	98	32857											
GDI1	2664	broad.mit.edu	37	chrX	153670920	153670920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttgagacaacctgcaaCgacatcaaagacatctacaa	5	12	2	2	rs76578139		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:153670920C>T	ENST00000447750.2	+	11	1580	c.1245C>T	c.(1243-1245)aaC>aaT	p.N415N	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	415					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAACCTGCAACGACATCAAAG	0.522													False	0	False	X:153670920	0	T	153670920	C	T	153670920	2	4	130	1	0	0	0	0	0	0	0	1	6365	535	19	1		1	GDI1	23	153670920	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	24480869	153670920	1599640	99	32858											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855916	12855916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgaaggacctgctgcGccacaccagtgggctgagca	13	15	0	2			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:12855916G>A	ENST00000332296.7	+	4	1299	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	399										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557													False	0	False	1:12855916	0	A	12855916	G	A	12855916	3	1	131	1	0	0	0	0	1	0	0	0	12499	1087	38	1	1206	1	PRAMEF1	1	12855916	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08		12855916	236394705	1	32859											
PRAMEF2	65122	broad.mit.edu	37	chr1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgaaggacctgctgcGccacaccagtgggctgagca	13	15	0	2	rs143742734	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:12921405G>A	ENST00000240189.2	+	4	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	399										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557													False	0	False	1:12921405	0	A	12921405	G	A	12921405	3	1	131	1	0	0	0	0	1	0	0	0	12509	1087	38	1	1206	1	PRAMEF2	1	12921405	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	65489	12921405	236329216	2	32860											
TAS1R2	80834	broad.mit.edu	37	chr1	19166741	19166741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggtggagaccttgggCggccccacgtacaccgggac	16	13	0	1	rs112760365		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:19166741C>T	ENST00000375371.3	-	6	1893	c.1872G>A	c.(1870-1872)ccG>ccA	p.P624P		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	624					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGACCTTGGGCGGCCCCACGT	0.617													False	0	True	1:19166741	0	T	19166741	C	T	19166741	2	4	131	1	0	0	0	0	0	0	0	1	15645	755	27	1		1	TAS1R2	1	19166741	Silent	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	6245336	19166741	230083880	3	32861											
MACF1	23499	broad.mit.edu	37	chr1	39951311	39951311	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgcttctgactttgacctcTtagagacgcagtctgcttgt	9	11	3	3			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:39951311T>C	ENST00000564288.1	+	101	23290	c.22513T>C	c.(22513-22515)Tta>Cta	p.L7505L	MACF1_ENST00000372915.3_Silent_p.L7338L|MACF1_ENST00000361689.2_Silent_p.L5380L|MACF1_ENST00000545844.1_Silent_p.L5380L|MACF1_ENST00000289893.4_Silent_p.L5888L|MACF1_ENST00000567887.1_Silent_p.L7542L|MACF1_ENST00000317713.7_Silent_p.L5380L|MACF1_ENST00000539005.1_Silent_p.L5250L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7338					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTTGACCTCTTAGAGACGCA	0.587													False	0	False	1:39951311	0	C	39951311	T	C	39951311	2	2	131	1	0	0	0	0	0	0	0	1	9207	1606	56	4		4	MACF1	1	39951311	Silent	SNP	T	TCGA-S4-A8RP-01A-11D-A36O-08	20784570	39951311	209299310	4	32862											
CELSR2	1952	broad.mit.edu	37	chr1	109812124	109812124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagcttctgccccgggcCctggacaaacccgtcacggt	13	15	2	0			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:109812124C>T	ENST00000271332.3	+	21	6952	c.6891C>T	c.(6889-6891)gcC>gcT	p.A2297A		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2297					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCCCCGGGCCCTGGACAAAC	0.597													False	0	True	1:109812124	0	T	109812124	C	T	109812124	2	4	131	1	0	0	0	0	0	0	0	1	3245	610	22	2		2	CELSR2	1	109812124	Silent	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	69860813	109812124	139438497	5	32863											
WNT2B	7482	broad.mit.edu	37	chr1	113059836	113059836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgcactctcagatttcCgccgcacaggtgattacctg	11	13	1	2			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:113059836C>T	ENST00000369686.5	+	5	822	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	WNT2B_ENST00000369684.4_Missense_Mutation_p.R259C|WNT2B_ENST00000256640.5_Missense_Mutation_p.R167C	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B						chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCAGATTTCCGCCGCACAGG	0.617													False	0	False	1:113059836	0	T	113059836	C	T	113059836	3	4	131	1	0	0	0	0	1	0	0	0	17471	652	23	1	922	1	WNT2B	1	113059836	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	3247712	113059836	136190785	6	32864											
CELF3	11189	broad.mit.edu	37	chr1	151681757	151681757	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcgatggtcccgaagggctcAaacatcttccggacgtcctc	10	14	2	0			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:151681757A>C	ENST00000290583.4	-	4	1138	c.345T>G	c.(343-345)ttT>ttG	p.F115L	CELF3_ENST00000290585.4_Missense_Mutation_p.F115L|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	115	RRM 2.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CGAAGGGCTCAAACATCTTCC	0.617													False	0	True	1:151681757	0	C	151681757	A	C	151681757	3	2	131	1	0	0	0	0	1	0	0	0	3240	127	5	4	1088	4	CELF3	1	151681757	Missense_Mutation	SNP	A	TCGA-S4-A8RP-01A-11D-A36O-08	38621921	151681757	97568864	7	32865											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	131	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-S4-A8RP-01A-11D-A36O-08	989758	152671515	96579106	8	32866											
SERPINC1	462	broad.mit.edu	37	chr1	173876629	173876629	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgcatctgagacatagaggtCatctcggccttctgcaacaa	9	11	4	2			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:173876629C>A	ENST00000367698.3	-	6	1295	c.1177G>T	c.(1177-1179)Gac>Tac	p.D393Y		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	393					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	ACATAGAGGTCATCTCGGCCT	0.473													False	0	False	1:173876629	0	A	173876629	C	A	173876629	3	1	131	1	0	0	0	0	1	0	0	0	14190	826	29	3	225	3	SERPINC1	1	173876629	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	21205114	173876629	75373992	9	32867											
KDM5B	10765	broad.mit.edu	37	chr1	202724554	202724554	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccatcactggcatgttgttCaaattccagccactatcaag	6	12	3	0	rs76768289		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:202724554C>A	ENST00000367265.3	-	11	2547	c.1383G>T	c.(1381-1383)ttG>ttT	p.L461F	KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	461	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GCATGTTGTTCAAATTCCAGC	0.378													False	0	True	1:202724554	0	A	202724554	C	A	202724554	3	1	131	1	0	0	0	0	1	0	0	0	8184	825	29	3	3319	3	KDM5B	1	202724554	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	28847925	202724554	46526067	10	32868											
CHIT1	1118	broad.mit.edu	37	chr1	203194202	203194202	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgccgaaattccagcctccGatggctaacagggtcttcag	11	12	2	0			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:203194202G>A	ENST00000367229.1	-	4	322	c.288C>T	c.(286-288)atC>atT	p.I96I	CHIT1_ENST00000255427.3_Intron|CHIT1_ENST00000535569.1_Intron|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	96					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCCAGCCTCCGATGGCTAACA	0.562													False	0	False	1:203194202	0	A	203194202	G	A	203194202	2	1	131	1	0	0	0	0	0	0	0	1	3369	1048	37	1		1	CHIT1	1	203194202	Silent	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	469648	203194202	46056419	11	32869											
DCTN1	1639	broad.mit.edu	37	chr2	74597120	74597120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacagtctccctcaactcgCgcactttctcttccagattc	4	18	3	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:74597120C>T	ENST00000361874.3	-	13	1681	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	DCTN1_ENST00000407639.2_Missense_Mutation_p.R321H|DCTN1_ENST00000409868.1_Missense_Mutation_p.R438H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R418H|DCTN1_ENST00000394003.3_Missense_Mutation_p.R448H|DCTN1_ENST00000409567.3_Missense_Mutation_p.R435H|DCTN1_ENST00000409438.1_Missense_Mutation_p.R321H	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	455					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTCAACTCGCGCACTTTCTC	0.537													False	0	False	2:74597120	0	T	74597120	C	T	74597120	3	4	131	1	0	0	0	0	1	0	0	0	4331	768	27	1	2552	1	DCTN1	2	74597120	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08		74597120	168602253	12	32870											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	131	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-S4-A8RP-01A-11D-A36O-08	23250245	97847365	145352008	13	32871											
RGPD4	285190	broad.mit.edu	37	chr2	108507185	108507185	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tactttccaaaggtgaggaaTaaaatgcttcccgttcttct	7	9	2	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:108507185T>G	ENST00000408999.3	+	23	5352	c.5275T>G	c.(5275-5277)Taa>Gaa	p.*1759E		NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	0					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGGTGAGGAATAAAATGCTTC	0.303													False	0	True	2:108507185	0	G	108507185	T	G	108507185	4	3	131	1	0	0	0	0	0	0	0	0	13367	1419	49	4	5365	4	RGPD4	2	108507185	Nonstop_Mutation	SNP	T	TCGA-S4-A8RP-01A-11D-A36O-08	10659820	108507185	134692188	14	32872											
RANBP2	5903	broad.mit.edu	37	chr2	109367729	109367729	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttttatttcaggtgctattcGagcacataatggtagtcttc	8	7	2	0			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:109367729G>T	ENST00000283195.6	+	10	1409	c.1283G>T	c.(1282-1284)cGa>cTa	p.R428L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	428					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.R428Q(6)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGTGCTATTCGAGCACATAAT	0.353													False	0	False	2:109367729	0	T	109367729	G	T	109367729	3	4	131	1	0	0	0	0	1	0	0	0	13107	1058	37	3	1321	3	RANBP2	2	109367729	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	860544	109367729	133831644	15	32873											
ERCC3	2071	broad.mit.edu	37	chr2	128046338	128046338	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacagctgtgggctttaggtCaatgttgatatcagggttga	14	5	2	2			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:128046338C>A	ENST00000493187.2	-	7	1196	c.733G>T	c.(733-735)Gac>Tac	p.D245Y	ERCC3_ENST00000285398.2_Missense_Mutation_p.D309Y			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	309					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGCTTTAGGTCAATGTTGATA	0.493			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				False	0	False	2:128046338	0	A	128046338	C	A	128046338	3	1	131	1	0	0	0	0	1	0	0	0	5246	826	29	3	1459	3	ERCC3	2	128046338	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	18678609	128046338	115153035	16	32874											
TTN	7273	broad.mit.edu	37	chr2	179598237	179598237	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgctcgctcaatgattttGgcaggttctacaatggtatg	10	8	3	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:179598237G>T	ENST00000589042.1	-	54	16007	c.15783C>A	c.(15781-15783)gcC>gcA	p.A5261A	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.A4017A|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.A4944A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4944	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATGATTTTGGCAGGTTCTA	0.443													False	0	True	2:179598237	0	T	179598237	G	T	179598237	2	4	131	1	0	0	0	0	0	0	0	1	16819	1335	47	3		3	TTN	2	179598237	Silent	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	51551899	179598237	63601136	17	32875											
SETMAR	6419	broad.mit.edu	37	chr3	4345079	4345079	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggaagcggcaaagacgAcacggccttgtgggatggcg	17	10	0	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:4345079A>G	ENST00000358065.4	+	1	92	c.25A>G	c.(25-27)Aca>Gca	p.T9A	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.T9A|SETMAR_ENST00000430981.1_Missense_Mutation_p.T9A	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	0	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGCAAAGACGACACGGCCTTG	0.647								Chromatin Structure					False	0	False	3:4345079	0	G	4345079	A	G	4345079	3	3	131	1	0	0	0	0	1	0	0	0	14221	275	10	4	27	4	SETMAR	3	4345079	Missense_Mutation	SNP	A	TCGA-S4-A8RP-01A-11D-A36O-08		4345079	193677351	18	32876											
JAGN1	84522	broad.mit.edu	37	chr3	9934929	9934930	+	Frame_Shift_Ins	INS	-	-	G													aggcctaccgtttcctctttINSggtttttctgccgtttccat							TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:9934929_9934930insG	ENST00000307768.4	+	2	589_590	c.420_421insG	c.(421-423)ggtfs	p.G141fs		NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1 (Drosophila)	141						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					GTTTCCTCTTTGGTTTTTCTGC	0.515													False	2	True	3:9934929	0	G	9934930	-	G	9934929	7	5	131	1	0	1	1	0	0	0	0	0	7986	1809	63	0	426	0	JAGN1	3	9934929	Frame_Shift_Ins	INS	-	TCGA-S4-A8RP-01A-11D-A36O-08	5589850	9934929	188087501	19	32877											
HACL1	26061	broad.mit.edu	37	chr3	15613278	15613278	+	Splice_Site	DEL	T	T	-													tatcaagttcctctaaaagcTtaaaaaaaaaaaaacacaca							TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:15613278delT	ENST00000451445.2	-	9	871		c.e9-2		HACL1_ENST00000321169.5_Splice_Site|HACL1_ENST00000435217.2_Splice_Site|HACL1_ENST00000457447.2_Intron|HACL1_ENST00000456194.2_Splice_Site			Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1						fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTCTAAAAGCTTAAAAAAAAA	0.323													False	2	False	3:15613278	0	-	15613278	T	-	15613278	8	5	131	1	0	1	0	1	0	0	1	0	6988	1623	56	0	768	0	HACL1	3	15613278	Splice_Site	DEL	T	TCGA-S4-A8RP-01A-11D-A36O-08	5678349	15613278	182409152	20	32878											
TRAK1	22906	broad.mit.edu	37	chr3	42251664	42251664	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggcacctttcccggaggCagagttttgggccattctca	11	12	1	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:42251664C>A	ENST00000341421.3	+	13	2169	c.1976C>A	c.(1975-1977)gCa>gAa	p.A659E	TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron	NM_001265608.1|NM_014965.4	NP_001252537.1|NP_055780.2	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TTCCCGGAGGCAGAGTTTTGG	0.577													False	0	False	3:42251664	0	A	42251664	C	A	42251664	3	1	131	1	0	0	0	0	1	0	0	0	16532	710	25	3	2320	3	TRAK1	3	42251664	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	26638386	42251664	155770766	21	32879											
ANKRD55	79722	broad.mit.edu	37	chr5	55407377	55407377	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaattcaaccatagccacctGatcaccaggctgttcttggc	7	13	3	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:55407377G>T	ENST00000341048.4	-	10	1349	c.1198C>A	c.(1198-1200)Cag>Aag	p.Q400K	ANKRD55_ENST00000434982.2_Missense_Mutation_p.Q112K|ANKRD55_ENST00000504958.2_Missense_Mutation_p.Q357K	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	399										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ATAGCCACCTGATCACCAGGC	0.473													False	0	False	5:55407377	0	T	55407377	G	T	55407377	3	4	131	1	0	0	0	0	1	0	0	0	681	1299	45	3	658	3	ANKRD55	5	55407377	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08		55407377	125507883	22	32880											
HTR1A	3350	broad.mit.edu	37	chr5	63257207	63257207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcacagcacgtcgagggCgatgaacaggtcgcaggtta	15	10	0	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:63257207C>T	ENST00000323865.3	-	1	573	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	114					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACGTCGAGGGCGATGAACAGG	0.607													False	0	True	5:63257207	0	T	63257207	C	T	63257207	3	4	131	1	0	0	0	0	1	0	0	0	7486	768	27	1	931	1	HTR1A	5	63257207	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	7849830	63257207	117658053	23	32881											
PHF15	0	broad.mit.edu	37	chr5	133914244	133914244	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caacagctggctggcacagtCggtgcagatcacagcagaga	13	11	1	2			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:133914244C>A	ENST00000395003.1	+	11	1789	c.1610C>A	c.(1609-1611)tCg>tAg	p.S537*	PHF15_ENST00000361895.2_Nonsense_Mutation_p.S538*|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000282605.4_Nonsense_Mutation_p.S581*	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		537					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGCACAGTCGGTGCAGATC	0.607													False	0	False	5:133914244	0	A	133914244	C	A	133914244	4	1	131	1	0	0	0	0	0	1	0	0	11895	893	31	3	1648	3	PHF15	5	133914244	Nonsense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	70657037	133914244	47001016	24	32882											
PCDHB7	0	broad.mit.edu	37	chr5	140553447	140553447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagatataaacgataatcGacccgagctgctcctgtctt	7	11	1	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:140553447G>A	ENST00000231137.3	+	1	1205	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		344	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGATAATCGACCCGAGCTG	0.458													False	0	False	5:140553447	0	A	140553447	G	A	140553447	3	1	131	1	0	0	0	0	1	0	0	0	11615	1058	37	1	1033	1	PCDHB7	5	140553447	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	6639203	140553447	40361813	25	32883											
VPS52	6293	broad.mit.edu	37	chr6	33235969	33235969	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcttctggaggataaactctCggatcttcgtcactgcctag	9	11	5	0			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:33235969C>A	ENST00000445902.2	-	8	934	c.716G>T	c.(715-717)cGa>cTa	p.R239L	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R114L|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	239					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GATAAACTCTCGGATCTTCGT	0.498													False	0	False	6:33235969	0	A	33235969	C	A	33235969	3	1	131	1	0	0	0	0	1	0	0	0	17298	884	31	3	1507	3	VPS52	6	33235969	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08		33235969	137879098	26	32884											
ZNF451	26036	broad.mit.edu	37	chr6	57018799	57018799	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaccctcaccacttagagggAgatatgatgtgtgccttgtt	10	9	1	3			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:57018799A>G	ENST00000370706.4	+	13	3268	c.3024A>G	c.(3022-3024)ggA>ggG	p.G1008G	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Silent_p.G1008G|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000357489.3_Silent_p.G960G|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	1008					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACTTAGAGGGAGATATGATGT	0.458													False	0	True	6:57018799	0	G	57018799	A	G	57018799	2	3	131	1	0	0	0	0	0	0	0	1	18005	291	11	4		4	ZNF451	6	57018799	Silent	SNP	A	TCGA-S4-A8RP-01A-11D-A36O-08	23782830	57018799	114096268	27	32885											
GPR6	0	broad.mit.edu	37	chr6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-													tggtagtggcggccgaaggaGcggcggcggcggccacagca							TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.					integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712													False	1	True	6:110300376	0	-	110300435	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	110300376	7	5	131	1	0	1	0	1	0	0	0	0	6747	971	34	0	63	0	GPR6	6	110300376	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	TCGA-S4-A8RP-01A-11D-A36O-08	53281577	110300376	60814691	28	32886											
FNDC1	84624	broad.mit.edu	37	chr6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-													agcagtcggtctcagccgagGacgacgaggaggaggacgcg							TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65													False	2	False	6:159655079	0	-	159655081	GAC	-	159655079	7	5	131	1	0	1	0	1	0	0	0	0	6008	1174	41	0	3577	0	FNDC1	6	159655079	In_Frame_Del	DEL	GAC	TCGA-S4-A8RP-01A-11D-A36O-08	49354703	159655079	11459988	29	32887											
MAGI2	9863	broad.mit.edu	37	chr7	77797420	77797420	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggcaatgacagctccaatCaaaatctagagaagcagtga	9	8	2	3			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:77797420C>A	ENST00000354212.4	-	15	2662	c.2409G>T	c.(2407-2409)ttG>ttT	p.L803F	MAGI2_ENST00000522391.1_Missense_Mutation_p.L803F|MAGI2_ENST00000419488.1_Missense_Mutation_p.L789F	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	803	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAGCTCCAATCAAAATCTAGA	0.458													False	0	True	7:77797420	0	A	77797420	C	A	77797420	3	1	131	1	0	0	0	0	1	0	0	0	9258	825	29	3	1990	3	MAGI2	7	77797420	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08		77797420	81341243	30	32888											
RELN	5649	broad.mit.edu	37	chr7	103132427	103132427	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttagtgtattccagcattAcggaatgaaggtcaccacaa	8	10	1	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:103132427A>G	ENST00000424685.2	-	58	9575	c.9416T>C	c.(9415-9417)gTa>gCa	p.V3139A	RELN_ENST00000343529.5_Missense_Mutation_p.V3139A|RELN_ENST00000428762.1_Missense_Mutation_p.V3139A|CTB-107G13.1_ENST00000422488.1_RNA			P78509	RELN_HUMAN	reelin	3139					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCAGCATTACGGAATGAAG	0.363													False	0	False	7:103132427	0	G	103132427	A	G	103132427	3	3	131	1	0	0	0	0	1	0	0	0	13299	391	14	4	998	4	RELN	7	103132427	Missense_Mutation	SNP	A	TCGA-S4-A8RP-01A-11D-A36O-08	25335007	103132427	56006236	31	32889											
PRSS1	5644	broad.mit.edu	37	chr7	142458439	142458439	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgatgacaagatcgTtgggggctacaactgtgagg	15	5	0	6			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:142458439T>C	ENST00000486171.1	+	2	91	c.74T>C	c.(73-75)gTt>gCt	p.V25A	PRSS1_ENST00000311737.7_Missense_Mutation_p.V25A			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	25	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GACAAGATCGTTGGGGGCTAC	0.547													False	0	False	7:142458439	0	C	142458439	T	C	142458439	3	2	131	1	0	0	0	0	1	0	0	0	12690	1725	60	4	80	4	PRSS1	7	142458439	Missense_Mutation	SNP	T	TCGA-S4-A8RP-01A-11D-A36O-08	39326012	142458439	16680224	32	32890											
NUB1	51667	broad.mit.edu	37	chr7	151046243	151046243	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatacgttgcaaggcaAttgagcgtggaacaggaaat	12	5	0	2			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:151046243A>G	ENST00000568733.1	+	3	340	c.274A>G	c.(274-276)Att>Gtt	p.I92V	NUB1_ENST00000413040.2_Missense_Mutation_p.I92V|NUB1_ENST00000355851.4_Missense_Mutation_p.I68V|NUB1_ENST00000566856.1_Missense_Mutation_p.I68V			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	68					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TTGCAAGGCAATTGAGCGTGG	0.368													False	0	False	7:151046243	0	G	151046243	A	G	151046243	3	3	131	1	0	0	0	0	1	0	0	0	10782	101	4	4	208	4	NUB1	7	151046243	Missense_Mutation	SNP	A	TCGA-S4-A8RP-01A-11D-A36O-08	8587804	151046243	8092420	33	32891											
SCRIB	23513	broad.mit.edu	37	chr8	144891881	144891881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagactcggcactcagcCgcttctcctgcggcgggaag	14	15	2	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr8:144891881C>T	ENST00000356994.2	-	14	1544	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	SCRIB_ENST00000320476.3_Missense_Mutation_p.R513Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.R432Q	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	513	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCACTCAGCCGCTTCTCCTG	0.687													False	0	False	8:144891881	0	T	144891881	C	T	144891881	3	4	131	1	0	0	0	0	1	0	0	0	14018	652	23	1	3525	1	SCRIB	8	144891881	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08		144891881	1472141	34	32892											
TRPM3	80036	broad.mit.edu	37	chr9	73151012	73151012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgtgttccgctgcctgtCgagtttgtcactgatggaga	13	9	1	2			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr9:73151012C>T	ENST00000377110.3	-	25	5224	c.4981G>A	c.(4981-4983)Gac>Aac	p.D1661N	TRPM3_ENST00000358082.3_Missense_Mutation_p.D1523N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D1533N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D1533N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D1688N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D1520N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D1665N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D1510N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D1523N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D1520N|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377105.1_Missense_Mutation_p.D1520N			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CGCTGCCTGTCGAGTTTGTCA	0.582													False	0	False	9:73151012	0	T	73151012	C	T	73151012	3	4	131	1	0	0	0	0	1	0	0	0	16670	884	31	1	146	1	TRPM3	9	73151012	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08		73151012	68062419	35	32893											
PSAT1	29968	broad.mit.edu	37	chr9	80921289	80921289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctacgtgtattattgcGcaaatgagacggtgcatggt	11	9	0	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr9:80921289G>A	ENST00000376588.3	+	5	525	c.457G>A	c.(457-459)Gca>Aca	p.A153T	PSAT1_ENST00000347159.2_Missense_Mutation_p.A153T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	153					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.A153T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	GTATTATTGCGCAAATGAGAC	0.463													False	0	False	9:80921289	0	A	80921289	G	A	80921289	3	1	131	1	0	0	0	0	1	0	0	0	12720	1087	38	1	475	1	PSAT1	9	80921289	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	7770277	80921289	60292142	36	32894											
COL27A1	85301	broad.mit.edu	37	chr9	116930332	116930332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctcgagctccgaggccGcacagtcactctggtgactg	13	15	2	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr9:116930332G>A	ENST00000356083.3	+	3	888	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	166	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCCGAGGCCGCACAGTCACT	0.692													False	0	False	9:116930332	0	A	116930332	G	A	116930332	3	1	131	1	0	0	0	0	1	0	0	0	3708	1087	38	1	507	1	COL27A1	9	116930332	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	36009043	116930332	24283099	37	32895											
TUBB8	347688	broad.mit.edu	37	chr10	93379	93379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcatgggcatgcgacccCtgaaaatggcagccgccgtt	11	15	1	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr10:93379C>T	ENST00000447903.2	-	4	1052	c.737G>A	c.(736-738)aGg>aAg	p.R246K	TUBB8_ENST00000309812.4_Missense_Mutation_p.R318K			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	318					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CATGCGACCCCTGAAAATGGC	0.512													False	0	True	10:93379	0	T	93379	C	T	93379	3	4	131	1	0	0	0	0	1	0	0	0	16845	681	24	2	385	2	TUBB8	10	93379	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08		93379	135441368	38	32896											
GTPBP4	23560	broad.mit.edu	37	chr10	1058521	1058521	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgacagctggcaaagcaaatTcgagagaaaaagaagttgaa	11	6	0	3			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr10:1058521T>A	ENST00000360803.4	+	14	1543	c.1461T>A	c.(1459-1461)atT>atA	p.I487I	GTPBP4_ENST00000538293.1_Silent_p.I371I|GTPBP4_ENST00000545048.1_Silent_p.I440I	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	487					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CAAAGCAAATTCGAGAGAAAA	0.443													False	0	False	10:1058521	0	A	1058521	T	A	1058521	2	1	131	1	0	0	0	0	0	0	0	1	6929	1771	62	5		5	GTPBP4	10	1058521	Silent	SNP	T	TCGA-S4-A8RP-01A-11D-A36O-08	965142	1058521	134476226	39	32897											
CPEB3	22849	broad.mit.edu	37	chr10	93870858	93870858	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtccttgatggtggggcttGacacacacaggtagagtttc	13	8	0	3			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr10:93870858G>T	ENST00000412050.4	-	7	1593	c.1505C>A	c.(1504-1506)tCa>tAa	p.S502*	CPEB3_ENST00000265997.4_Nonsense_Mutation_p.S516*	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	516	RRM 1.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GGTGGGGCTTGACACACACAG	0.473													False	0	True	10:93870858	0	T	93870858	G	T	93870858	4	4	131	1	0	0	0	0	0	1	0	0	3825	1294	45	3	565	3	CPEB3	10	93870858	Nonsense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	92812337	93870858	41663889	40	32898											
CLSTN3	9746	broad.mit.edu	37	chr12	7301731	7301731	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccctttgttccctgatcttCaaatcacctgctccatttct	3	15	4	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:7301731C>A	ENST00000537408.1	+	12	2585	c.2047C>A	c.(2047-2049)Caa>Aaa	p.Q683K	CLSTN3_ENST00000266546.6_Missense_Mutation_p.Q671K			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	671					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCCTGATCTTCAAATCACCTG	0.562													False	0	True	12:7301731	0	A	7301731	C	A	7301731	3	1	131	1	0	0	0	0	1	0	0	0	3586	827	29	3	2061	3	CLSTN3	12	7301731	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08		7301731	126550164	41	32899											
SLCO1B3	28234	broad.mit.edu	37	chr12	21054322	21054322	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatattttggggctctgattGataaaacatgtatgaagtgg	11	3	1	3			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:21054322G>T	ENST00000381545.3	+	15	2005	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	LST3_ENST00000540229.1_Missense_Mutation_p.D596Y|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D596Y|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D596Y|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	596					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.D596N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGCTCTGATTGATAAAACATG	0.378													False	0	True	12:21054322	0	T	21054322	G	T	21054322	3	4	131	1	0	0	0	0	1	0	0	0	14804	1290	45	3	1836	3	SLCO1B3	12	21054322	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	13752591	21054322	112797573	42	32900											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	131	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	4343963	25398285	108453610	43	32901											
OR6C76	390326	broad.mit.edu	37	chr12	55820043	55820043	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatcaatcatcagaaatgaaAaatagaacatcagtgacaga	6	6	4	5			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:55820043A>C	ENST00000328314.3	+	1	6	c.6A>C	c.(4-6)aaA>aaC	p.K2N		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGAAATGAAAAATAGAACAT	0.353													False	0	True	12:55820043	0	C	55820043	A	C	55820043	3	2	131	1	0	0	0	0	1	0	0	0	11268	11	1	4	8	4	OR6C76	12	55820043	Missense_Mutation	SNP	A	TCGA-S4-A8RP-01A-11D-A36O-08	30421758	55820043	78031852	44	32902											
FAM19A2	338811	broad.mit.edu	37	chr12	62147455	62147455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctccatcctttccgatccGgaagaactttacattcttct	5	13	2	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:62147455G>A	ENST00000416284.3	-	4	1916	c.332C>T	c.(331-333)cCg>cTg	p.P111L	FAM19A2_ENST00000551619.1_Missense_Mutation_p.P111L|FAM19A2_ENST00000550003.1_Missense_Mutation_p.P14L|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	111						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TTTCCGATCCGGAAGAACTTT	0.408													False	0	False	12:62147455	0	A	62147455	G	A	62147455	3	1	131	1	0	0	0	0	1	0	0	0	5568	1116	39	1	71	1	FAM19A2	12	62147455	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	6327412	62147455	71704440	45	32903											
PITPNM2	57605	broad.mit.edu	37	chr12	123480179	123480179	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgtgctgcattcatcAggatgcccggggacagcagg	15	10	2	0			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:123480179A>G	ENST00000280562.5	-	13	2016	c.1811T>C	c.(1810-1812)cTg>cCg	p.L604P	PITPNM2_ENST00000320201.4_Missense_Mutation_p.L604P|PITPNM2_ENST00000392428.1_Missense_Mutation_p.L325P|PITPNM2_ENST00000542749.1_Missense_Mutation_p.L604P			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	604					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGCATTCATCAGGATGCCCGG	0.672													False	0	False	12:123480179	0	G	123480179	A	G	123480179	3	3	131	1	0	0	0	0	1	0	0	0	12020	188	7	4	2290	4	PITPNM2	12	123480179	Missense_Mutation	SNP	A	TCGA-S4-A8RP-01A-11D-A36O-08	61332724	123480179	10371716	46	32904											
DDX55	57696	broad.mit.edu	37	chr12	124103244	124103244	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcaggagatgaagccccagaGaaacacagcggaccttctgc	12	12	1	3			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:124103244G>T	ENST00000238146.4	+	12	1243	c.1193G>T	c.(1192-1194)aGa>aTa	p.R398I	DDX55_ENST00000538744.1_Missense_Mutation_p.R367I|DDX55_ENST00000421670.3_Missense_Mutation_p.R5I|DDX55_ENST00000541259.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	398	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AAGCCCCAGAGAAACACAGCG	0.527											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	12:124103244	0	T	124103244	G	T	124103244	3	4	131	1	0	0	0	0	1	0	0	0	4398	942	33	3	1239	3	DDX55	12	124103244	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	623065	124103244	9748651	47	32905											
GOLGA3	2802	broad.mit.edu	37	chr12	133384600	133384600	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggaactggcccagggtatccGcaggaatctcctggccgttg	14	12	1	0			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:133384600G>C	ENST00000204726.3	-	5	1613	c.1055C>G	c.(1054-1056)gCg>gGg	p.A352G	GOLGA3_ENST00000450791.2_Missense_Mutation_p.A352G|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A352G|GOLGA3_ENST00000545875.1_Missense_Mutation_p.A352G|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A352G	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	352					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAGGGTATCCGCAGGAATCTC	0.632													False	0	False	12:133384600	0	C	133384600	G	C	133384600	3	2	131	1	0	0	0	0	1	0	0	0	6599	1087	38	5	3659	5	GOLGA3	12	133384600	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	9281356	133384600	467295	48	32906											
MYCBP2	23077	broad.mit.edu	37	chr13	77672265	77672265	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcttggatccatctcctttGaaaagaaaactcgatttttc	7	9	1	2			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr13:77672265G>T	ENST00000407578.2	-	56	9290	c.9024C>A	c.(9022-9024)ttC>ttA	p.F3008L	MYCBP2_ENST00000544440.2_Missense_Mutation_p.F2970L|MYCBP2_ENST00000360084.5_Missense_Mutation_p.Q493K|MYCBP2_ENST00000357337.6_Missense_Mutation_p.F2970L|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2-AS1_ENST00000593933.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2970					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CATCTCCTTTGAAAAGAAAAC	0.453													False	0	True	13:77672265	0	T	77672265	G	T	77672265	3	4	131	1	0	0	0	0	1	0	0	0	10085	1281	45	3	5124	3	MYCBP2	13	77672265	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08		77672265	37497613	49	32907											
EIF2B2	8892	broad.mit.edu	37	chr14	75472658	75472658	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttgccgttatgtcaagagtCaacaaggtgggtatatctgg	12	6	3	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr14:75472658C>A	ENST00000266126.5	+	5	767	c.687C>A	c.(685-687)gtC>gtA	p.V229V	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	229					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGTCAAGAGTCAACAAGGTGG	0.383													False	0	False	14:75472658	0	A	75472658	C	A	75472658	2	1	131	1	0	0	0	0	0	0	0	1	5031	813	29	3		3	EIF2B2	14	75472658	Silent	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08		75472658	31876882	50	32908											
GTF2A1	2957	broad.mit.edu	37	chr14	81646614	81646614	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaatatataatctcttcCattaagattcataatgccat	4	7	2	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr14:81646614C>A	ENST00000553612.1	-	9	1487	c.1084G>T	c.(1084-1086)Gga>Tga	p.G362*	GTF2A1_ENST00000434192.2_Nonsense_Mutation_p.G323*	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	362					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TAATCTCTTCCATTAAGATTC	0.269													False	0	False	14:81646614	0	A	81646614	C	A	81646614	4	1	131	1	0	0	0	0	0	1	0	0	6899	603	21	3	50	3	GTF2A1	14	81646614	Nonsense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	6173956	81646614	25702926	51	32909											
SPPL2A	84888	broad.mit.edu	37	chr15	51012246	51012246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaggagagcaggttgccccTttttcatcagcaccagaaca	10	11	2	3			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:51012246T>C	ENST00000261854.5	-	14	1653	c.1379A>G	c.(1378-1380)aAg>aGg	p.K460R		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	460						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		AGGTTGCCCCTTTTTCATCAG	0.408													False	0	True	15:51012246	0	C	51012246	T	C	51012246	3	2	131	1	0	0	0	0	1	0	0	0	15170	1609	56	4	191	4	SPPL2A	15	51012246	Missense_Mutation	SNP	T	TCGA-S4-A8RP-01A-11D-A36O-08		51012246	51519146	52	32910											
TM6SF1	53346	broad.mit.edu	37	chr15	83776476	83776476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcttcgtgctgtccctctCggccatcccggtcacctatg	10	16	3	0			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:83776476C>T	ENST00000322019.9	+	1	318	c.44C>T	c.(43-45)tCg>tTg	p.S15L	TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379390.6_Missense_Mutation_p.S15L|TM6SF1_ENST00000379386.4_Missense_Mutation_p.S15L|TM6SF1_ENST00000565774.1_Missense_Mutation_p.S15L			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	15						integral to membrane		p.S15W(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGTCCCTCTCGGCCATCCCG	0.736													False	0	False	15:83776476	0	T	83776476	C	T	83776476	3	4	131	1	0	0	0	0	1	0	0	0	16054	893	31	1	46	1	TM6SF1	15	83776476	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	32764230	83776476	18754916	53	32911											
MCTP2	55784	broad.mit.edu	37	chr15	94945245	94945245	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttaagaagtacaatagcattCgcggtaagcttcctttctta	7	8	1	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:94945245C>T	ENST00000357742.4	+	16	2082	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	MCTP2_ENST00000331706.4_Silent_p.F282F|MCTP2_ENST00000451018.3_Silent_p.F694F|MCTP2_ENST00000557742.1_Silent_p.F282F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	694					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAATAGCATTCGCGGTAAGCT	0.383													False	0	False	15:94945245	0	T	94945245	C	T	94945245	2	4	131	1	0	0	0	0	0	0	0	1	9468	883	31	1		1	MCTP2	15	94945245	Silent	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	11168769	94945245	7586147	54	32912											
SRL	6345	broad.mit.edu	37	chr16	4245590	4245590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggttctcgatgatgcctgGtgtatccacaaaagtgaccc	11	11	1	2			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:4245590G>A	ENST00000399609.3	-	5	586	c.574C>T	c.(574-576)Cca>Tca	p.P192S	SRL_ENST00000537996.1_Missense_Mutation_p.P150S	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	651	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						ATGATGCCTGGTGTATCCACA	0.448													False	0	False	16:4245590	0	A	4245590	G	A	4245590	3	1	131	1	0	0	0	0	1	0	0	0	15232	1261	44	2	855	2	SRL	16	4245590	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08		4245590	86109163	55	32913											
GEMIN4	50628	broad.mit.edu	37	chr17	650776	650776	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcgggtgacccttgtgCttcatcacctcccaccagac	8	17	2	2			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:650776C>G	ENST00000576778.1	-	1	1815	c.474G>C	c.(472-474)aaG>aaC	p.K158N	GEMIN4_ENST00000319004.5_Missense_Mutation_p.K169N|GEMIN4_ENST00000437269.1_Intron			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	169					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GACCCTTGTGCTTCATCACCT	0.562													False	0	False	17:650776	0	G	650776	C	G	650776	3	3	131	1	0	0	0	0	1	0	0	0	6375	796	28	5	2673	5	GEMIN4	17	650776	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08		650776	80544434	56	32914											
GAS7	8522	broad.mit.edu	37	chr17	9923135	9923135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtaccgccggccctgaggcGacaggtagctctgccagcca	13	15	1	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:9923135G>A	ENST00000323816.4	-	3	245	c.83C>T	c.(82-84)tCg>tTg	p.S28L	GAS7_ENST00000540214.1_Missense_Mutation_p.S24L|GAS7_ENST00000585266.1_Missense_Mutation_p.S28L|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000542249.1_Missense_Mutation_p.S24L|GAS7_ENST00000396115.2_Missense_Mutation_p.S24L|GAS7_ENST00000437099.2_Missense_Mutation_p.S24L|GAS7_ENST00000432992.2_Missense_Mutation_p.S88L|GAS7_ENST00000579158.1_Missense_Mutation_p.S24L			O60861	GAS7_HUMAN	growth arrest-specific 7	92	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCCCTGAGGCGACAGGTAGCT	0.597			T	MLL	AML*								False	0	False	17:9923135	0	A	9923135	G	A	9923135	3	1	131	1	0	0	0	0	1	0	0	0	6293	1059	37	1	1270	1	GAS7	17	9923135	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	9272359	9923135	71272075	57	32915											
FTSJ3	117246	broad.mit.edu	37	chr17	61897290	61897290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcactttgcggcccacacCttttttggctacaacgtagg	10	13	0	0			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:61897290C>T	ENST00000427159.2	-	21	3061	c.2416G>A	c.(2416-2418)Ggt>Agt	p.G806S		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	806					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGGCCCACACCTTTTTTGGCT	0.532													False	0	True	17:61897290	0	T	61897290	C	T	61897290	3	4	131	1	0	0	0	0	1	0	0	0	6131	681	24	2	131	2	FTSJ3	17	61897290	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	51974155	61897290	19297920	58	32916											
CEP192	55125	broad.mit.edu	37	chr18	13100331	13100331	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaaagttcaaattcgagaaGatttaactcaagtggaactt	8	5	2	3			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr18:13100331G>T	ENST00000506447.1	+	38	6771	c.6691G>T	c.(6691-6693)Gat>Tat	p.D2231Y	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.D1756Y|CEP192_ENST00000325971.8_Missense_Mutation_p.D1635Y	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1826										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AATTCGAGAAGATTTAACTCA	0.338													False	0	False	18:13100331	0	T	13100331	G	T	13100331	3	4	131	1	0	0	0	0	1	0	0	0	3274	942	33	3	6837	3	CEP192	18	13100331	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08		13100331	64976917	59	32917											
SMAD4	4089	broad.mit.edu	37	chr18	48591891	48591891	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctattgttactgttgatGgatacgtggacccttctgga	11	9	1	1	rs121912581		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr18:48591891G>T	ENST00000342988.3	+	9	1592	c.1054G>T	c.(1054-1056)Gga>Tga	p.G352*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G352*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G256*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	352	MH2.		G -> R (in JP/HHT and JPS).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TACTGTTGATGGATACGTGGA	0.443													False	0	False	18:48591891	0	T	48591891	G	T	48591891	4	4	131	1	0	0	0	0	0	1	0	0	14840	1349	47	3	1084	3	SMAD4	18	48591891	Nonsense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	35491560	48591891	29485357	60	32918											
ZNF516	9658	broad.mit.edu	37	chr18	74154961	74154961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccggccggccctggtgGggctggggcctcgcctcagc	18	17	1	0			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr18:74154961G>A	ENST00000443185.2	-	3	367	c.50C>T	c.(49-51)cCc>cTc	p.P17L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCCTGGTGGGGCTGGGGCC	0.692													False	0	True	18:74154961	0	A	74154961	G	A	74154961	3	1	131	1	0	0	0	0	1	0	0	0	18043	1232	43	2	3462	2	ZNF516	18	74154961	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	25563070	74154961	3922287	61	32919											
PPAP2C	8612	broad.mit.edu	37	chr19	291323	291323	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcgagcagcacgaagaccCacctccgctgcatggtcccc	10	18	0	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:291323C>T	ENST00000269812.3	-	1	63	c.14G>A	c.(13-15)tGg>tAg	p.W5*	PPAP2C_ENST00000434325.2_Intron	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	5					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGAAGACCCACCTCCGCTG	0.756													False	0	True	19:291323	0	T	291323	C	T	291323	4	4	131	1	0	0	0	0	0	1	0	0	12361	595	21	2	995	2	PPAP2C	19	291323	Nonsense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08		291323	58837660	62	32920											
PPAN-P2RY11	0	broad.mit.edu	37	chr19	10220315	10220315	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctccccttccaggtgaacctGaacaccatcaagcgctgcct	7	17	1	2			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:10220315G>T	ENST00000428358.1	+	6	694	c.522G>T	c.(520-522)ctG>ctT	p.L174L	PPAN_ENST00000556468.1_Silent_p.L174L|PPAN_ENST00000393793.1_Silent_p.L121L|PPAN_ENST00000253107.7_Silent_p.L174L|PPAN-P2RY11_ENST00000393796.4_Silent_p.L174L	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		174	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			AGGTGAACCTGAACACCATCA	0.577													False	0	False	19:10220315	0	T	10220315	G	T	10220315	2	4	131	1	0	0	0	0	0	0	0	1	12358	1277	45	3		3	PPAN-P2RY11	19	10220315	Silent	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	9928992	10220315	48908668	63	32921											
ZNF99	7652	broad.mit.edu	37	chr19	22940484	22940484	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtaagttttgaggaccactTaaaagctttaccacattctt	6	8	1	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:22940484T>G	ENST00000397104.3	-	5	1953	c.1954A>C	c.(1954-1956)Aag>Cag	p.K652Q	ZNF99_ENST00000596209.1_Missense_Mutation_p.K743Q					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GAGGACCACTTAAAAGCTTTA	0.383													False	0	True	19:22940484	0	G	22940484	T	G	22940484	3	3	131	1	0	0	0	0	1	0	0	0	18286	1763	61	4	1170	4	ZNF99	19	22940484	Missense_Mutation	SNP	T	TCGA-S4-A8RP-01A-11D-A36O-08	12720169	22940484	36188499	64	32922											
NFKBIB	4793	broad.mit.edu	37	chr19	39398260	39398260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacgagaaatccggcccCtgcagcagcagtagcgacag	14	12	0	1			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:39398260C>T	ENST00000392079.3	+	5	932	c.834C>T	c.(832-834)ccC>ccT	p.P278P	NFKBIB_ENST00000572515.1_Silent_p.P310P|NFKBIB_ENST00000313582.5_Silent_p.P310P			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	310					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AATCCGGCCCCTGCAGCAGCA	0.692													False	0	True	19:39398260	0	T	39398260	C	T	39398260	2	4	131	1	0	0	0	0	0	0	0	1	10446	668	24	2		2	NFKBIB	19	39398260	Silent	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08	16457776	39398260	19730723	65	32923											
LRRC4B	94030	broad.mit.edu	37	chr19	51021095	51021095	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acggacacggccgaggcggcGggcagctcgtcctccacgtt	15	15	0	0			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:51021095G>T	ENST00000599957.1	-	3	2072	c.1875C>A	c.(1873-1875)ccC>ccA	p.P625P	LRRC4B_ENST00000389201.3_Silent_p.P625P			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	625						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCGAGGCGGCGGGCAGCTCGT	0.726													False	0	True	19:51021095	0	T	51021095	G	T	51021095	2	4	131	1	0	0	0	0	0	0	0	1	9069	1103	39	3		3	LRRC4B	19	51021095	Silent	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	11622835	51021095	8107888	66	32924											
POTEH	23784	broad.mit.edu	37	chr22	16287770	16287770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgcccacgttgctcttgCcgctccccctgcaccaggcg	10	18	1	0			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr22:16287770C>T	ENST00000343518.6	-	1	167	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	39										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTGCTCTTGCCGCTCCCCCT	0.592													False	0	False	22:16287770	0	T	16287770	C	T	16287770	3	4	131	1	0	0	0	0	1	0	0	0	12336	739	26	2	1561	2	POTEH	22	16287770	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08		16287770	35016796	67	32925											
NONO	4841	broad.mit.edu	37	chrX	70517747	70517747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcaagaagaaatgatgCggcgacagcaggaaggattc	15	7	0	3			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:70517747C>T	ENST00000535149.1	+	7	1466	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.R364W|NONO_ENST00000373856.3_Missense_Mutation_p.R364W|NONO_ENST00000276079.8_Missense_Mutation_p.R364W	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	364	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGAAATGATGCGGCGACAGCA	0.512			T	TFE3	papillary renal cancer								False	0	False	X:70517747	0	T	70517747	C	T	70517747	3	4	131	1	0	0	0	0	1	0	0	0	10602	759	27	1	1116	1	NONO	23	70517747	Missense_Mutation	SNP	C	TCGA-S4-A8RP-01A-11D-A36O-08		70517747	84752813	68	32926											
GLUD2	2747	broad.mit.edu	37	chrX	120182702	120182702	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgccactgagaagcagttGaccaaatccaacgcacccag	9	14	0	2			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:120182702G>T	ENST00000328078.1	+	1	1241	c.1164G>T	c.(1162-1164)ttG>ttT	p.L388F		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	388					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGAAGCAGTTGACCAAATCCA	0.507													False	0	False	X:120182702	0	T	120182702	G	T	120182702	3	4	131	1	0	0	0	0	1	0	0	0	6522	1281	45	3	1166	3	GLUD2	23	120182702	Missense_Mutation	SNP	G	TCGA-S4-A8RP-01A-11D-A36O-08	49664955	120182702	35087858	69	32927											
CAMTA1	23261	broad.mit.edu	37	chr1	7724800	7724800	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtaatccgaagcgccggCggcgtccccatcctcccggg	15	16	0	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:7724800C>T	ENST00000303635.7	+	9	2400	c.2193C>T	c.(2191-2193)ggC>ggT	p.G731G	CAMTA1_ENST00000439411.2_Silent_p.G731G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GAAGCGCCGGCGGCGTCCCCA	0.672			T	WWTR1	epitheliod hemangioendothelioma								False	0	False	1:7724800	0	T	7724800	C	T	7724800	2	4	132	1	0	0	0	0	0	0	0	1	2633	755	27	1		1	CAMTA1	1	7724800	Silent	SNP	C	TCGA-US-A774-01A-21D-A32N-08		7724800	241525821	1	32928											
MACF1	23499	broad.mit.edu	37	chr1	39818849	39818849	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggacaccactgatggttaCatgggggtgaatcaagcccc	12	10	1	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:39818849C>A	ENST00000564288.1	+	44	12147	c.11370C>A	c.(11368-11370)taC>taA	p.Y3790*	MACF1_ENST00000289893.4_Nonsense_Mutation_p.Y2230*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Y3827*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Y3795*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3795					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGATGGTTACATGGGGGTGA	0.502													False	0	False	1:39818849	0	A	39818849	C	A	39818849	4	1	132	1	0	0	0	0	0	1	0	0	9207	489	17	3	11489	3	MACF1	1	39818849	Nonsense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	32094049	39818849	209431772	2	32929											
PTCH2	8643	broad.mit.edu	37	chr1	45307637	45307637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacaatgtctctggatcccGcatcccagagagaagagcag	10	13	1	3			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:45307637G>A	ENST00000447098.2	-	2	158	c.147C>T	c.(145-147)tgC>tgT	p.C49C	PTCH2_ENST00000372192.3_Silent_p.C49C	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	49					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	p.C49C(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCTGGATCCCGCATCCCAGAG	0.557									Basal Cell Nevus syndrome				False	0	True	1:45307637	0	A	45307637	G	A	45307637	2	1	132	1	0	0	0	0	0	0	0	1	12807	1079	38	1		1	PTCH2	1	45307637	Silent	SNP	G	TCGA-US-A774-01A-21D-A32N-08	5488788	45307637	203942984	3	32930											
LPAR3	23566	broad.mit.edu	37	chr1	85331338	85331338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgcccccataaaaatggCgatggcccagacaagcaaaa	9	13	0	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:85331338C>T	ENST00000440886.1	-	1	504	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	LPAR3_ENST00000370611.3_Missense_Mutation_p.A156T|LPAR3_ENST00000491034.1_Intron			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	156					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		p.A156T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ATAAAAATGGCGATGGCCCAG	0.542													False	0	False	1:85331338	0	T	85331338	C	T	85331338	3	4	132	1	0	0	0	0	1	0	0	0	8968	768	27	1	603	1	LPAR3	1	85331338	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	40023701	85331338	163919283	4	32931											
HRNR	388697	broad.mit.edu	37	chr1	152191731	152191731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccagacccgtgttggcCgtggctggaggagtgccctg	17	11	0	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:152191731C>T	ENST00000368801.2	-	3	2449	c.2374G>A	c.(2374-2376)Ggc>Agc	p.G792S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	792					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGTTGGCCGTGGCTGGAG	0.602													False	0	False	1:152191731	0	T	152191731	C	T	152191731	3	4	132	1	0	0	0	0	1	0	0	0	7406	652	23	1	6182	1	HRNR	1	152191731	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	66860393	152191731	97058890	5	32932											
KCNN3	3782	broad.mit.edu	37	chr1	154841843	154841843	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttggccctcagtctcggcctCgatgaggttcctccgggagg	14	13	2	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:154841843C>A	ENST00000271915.4	-	1	913	c.598G>T	c.(598-600)Gag>Tag	p.E200*		NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GTCTCGGCCTCGATGAGGTTC	0.637													False	0	False	1:154841843	0	A	154841843	C	A	154841843	4	1	132	1	0	0	0	0	0	1	0	0	8130	893	31	3	1651	3	KCNN3	1	154841843	Nonsense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	2650112	154841843	94408778	6	32933											
INSRR	3645	broad.mit.edu	37	chr1	156816395	156816395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggttagcgtgatggcccGcacaaacactgcgtactgtg	13	10	0	1	rs66777388		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:156816395G>A	ENST00000368195.3	-	8	2122	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	576	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGATGGCCCGCACAAACACT	0.617													False	0	True	1:156816395	0	A	156816395	G	A	156816395	3	1	132	1	0	0	0	0	1	0	0	0	7824	1086	38	1	2226	1	INSRR	1	156816395	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	1974552	156816395	92434226	7	32934											
HMCN1	83872	broad.mit.edu	37	chr1	186024700	186024700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaatactggatgaaggtcaCatccttcagctgaagaacat	9	8	2	3			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:186024700C>T	ENST00000271588.4	+	45	7267	c.7038C>T	c.(7036-7038)caC>caT	p.H2346H	HMCN1_ENST00000367492.2_Silent_p.H2346H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2346	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGAAGGTCACATCCTTCAGC	0.453													False	0	False	1:186024700	0	T	186024700	C	T	186024700	2	4	132	1	0	0	0	0	0	0	0	1	7267	477	17	2		2	HMCN1	1	186024700	Silent	SNP	C	TCGA-US-A774-01A-21D-A32N-08	29208305	186024700	63225921	8	32935											
HHIPL2	79802	broad.mit.edu	37	chr1	222696153	222696153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagacaaaccctgggctggGccagaagctaaggttgcact	12	11	1	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:222696153G>A	ENST00000343410.6	-	9	2023	c.1965C>T	c.(1963-1965)ggC>ggT	p.G655G	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	655					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCTGGGCTGGGCCAGAAGCTA	0.458													False	0	True	1:222696153	0	A	222696153	G	A	222696153	2	1	132	1	0	0	0	0	0	0	0	1	7141	1190	42	2		2	HHIPL2	1	222696153	Silent	SNP	G	TCGA-US-A774-01A-21D-A32N-08	36671453	222696153	26554468	9	32936											
PLD5	200150	broad.mit.edu	37	chr1	242451663	242451663	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacagaggatgtagcttaCctgacatgctgatggatgag	12	8	0	4			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:242451663C>T	ENST00000536534.2	-	3	737		c.e3+1		PLD5_ENST00000442594.2_Splice_Site|PLD5_ENST00000427495.1_Splice_Site			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5							integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATGTAGCTTACCTGACATGCT	0.413													False	0	False	1:242451663	0	T	242451663	C	T	242451663	5	4	132	1	0	0	0	0	0	0	1	0	12118	521	18	2	1146	2	PLD5	1	242451663	Splice_Site	SNP	C	TCGA-US-A774-01A-21D-A32N-08	19755510	242451663	6798958	10	32937											
TPO	7173	broad.mit.edu	37	chr2	1480921	1480921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctaccgctcttcggccGcctgcggcaccggggaccaa	11	18	2	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:1480921G>A	ENST00000345913.4	+	8	974	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	TPO_ENST00000349624.3_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.A295T|TPO_ENST00000382201.3_Missense_Mutation_p.A295T|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.A295T|TPO_ENST00000346956.3_Missense_Mutation_p.A295T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	295					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCTTCGGCCGCCTGCGGCAC	0.706													False	0	False	2:1480921	0	A	1480921	G	A	1480921	3	1	132	1	0	0	0	0	1	0	0	0	16493	1087	38	1	909	1	TPO	2	1480921	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08		1480921	241718452	11	32938											
CEBPZ	10153	broad.mit.edu	37	chr2	37456107	37456107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaccttgctgaaggtcatCgattgctccttttttgcctc	7	12	2	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:37456107C>T	ENST00000234170.5	-	2	374	c.229G>A	c.(229-231)Gat>Aat	p.D77N		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	77					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TGAAGGTCATCGATTGCTCCT	0.358													False	0	False	2:37456107	0	T	37456107	C	T	37456107	3	4	132	1	0	0	0	0	1	0	0	0	3227	884	31	1	2995	1	CEBPZ	2	37456107	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	35975186	37456107	205743266	12	32939											
PCGF1	84759	broad.mit.edu	37	chr2	74733907	74733907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgatgtcctgcatgacccGgtccagtttgaggttgagca	12	11	0	3			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:74733907G>A	ENST00000233630.6	-	3	1215	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	102	Necessary for repressor activity.|No repressor activity.				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TGCATGACCCGGTCCAGTTTG	0.502													False	0	True	2:74733907	0	A	74733907	G	A	74733907	3	1	132	1	0	0	0	0	1	0	0	0	11642	1115	39	1	503	1	PCGF1	2	74733907	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	37277800	74733907	168465466	13	32940											
CCDC74B	91409	broad.mit.edu	37	chr2	130897862	130897862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatcattggggggtgtgCcgccgcccccatctgcctgc	14	15	2	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:130897862C>T	ENST00000392984.3	-	4	1815	c.1072G>A	c.(1072-1074)Gca>Aca	p.A358T	CCDC74B_ENST00000409943.3_Missense_Mutation_p.A190T|CCDC74B_ENST00000310463.6_Missense_Mutation_p.A256T			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	256										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GGGGGGTGTGCCGCCGCCCCC	0.602													False	0	True	2:130897862	0	T	130897862	C	T	130897862	3	4	132	1	0	0	0	0	1	0	0	0	2869	739	26	2	392	2	CCDC74B	2	130897862	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	56163955	130897862	112301511	14	32941											
LCT	3938	broad.mit.edu	37	chr2	136575286	136575286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacctgagcccggaggccGcaaagcagggcgacgtcaga	14	13	1	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:136575286G>A	ENST00000264162.2	-	6	1342	c.1332C>T	c.(1330-1332)tgC>tgT	p.C444C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	444	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCGGAGGCCGCAAAGCAGGG	0.647													False	0	False	2:136575286	0	A	136575286	G	A	136575286	2	1	132	1	0	0	0	0	0	0	0	1	8744	1079	38	1		1	LCT	2	136575286	Silent	SNP	G	TCGA-US-A774-01A-21D-A32N-08	5677424	136575286	106624087	15	32942											
MCM6	4175	broad.mit.edu	37	chr2	136615535	136615535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaatagcaacttgatcccGcacgtccatcttatcaaatt	5	11	2	2	rs138808270		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:136615535G>A	ENST00000264156.2	-	10	1462	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	468	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	ACTTGATCCCGCACGTCCATC	0.428													False	0	True	2:136615535	0	A	136615535	G	A	136615535	3	1	132	1	0	0	0	0	1	0	0	0	9458	1086	38	1	1095	1	MCM6	2	136615535	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	40249	136615535	106583838	16	32943											
ACVR2A	92	broad.mit.edu	37	chr2	148657443	148657443	+	Nonsense_Mutation	SNP	C	C	A													aggcatcacaagatggcctaCcctcctgtacttgttccaac							TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:148657443C>A	ENST00000241416.7	+	4	1140	c.504C>A	c.(502-504)taC>taA	p.Y168*	ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.Y168*|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.Y60*	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	168					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AGATGGCCTACCCTCCTGTAC	0.388													False	0	True	2:148657443	0	A	148657443	C	A	148657443	4	1	132	1	0	0	0	0	0	1	0	0	223	518	18	3	518	3	ACVR2A	2	148657443	Nonsense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	12041908	148657443	94541930	17	32944	382	2									
ACVR2A	92	broad.mit.edu	37	chr2	148657447	148657447	+	Missense_Mutation	SNP	C	C	G													atcacaagatggcctaccctCctgtacttgttccaactcaa							TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:148657447C>G	ENST00000241416.7	+	4	1144	c.508C>G	c.(508-510)Cct>Gct	p.P170A	ACVR2A_ENST00000404590.1_Missense_Mutation_p.P170A|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Missense_Mutation_p.P62A	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	170					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GGCCTACCCTCCTGTACTTGT	0.383													False	0	False	2:148657447	0	G	148657447	C	G	148657447	3	3	132	1	0	0	0	0	1	0	0	0	223	855	30	5	522	5	ACVR2A	2	148657447	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	4	148657447	94541926	18	32945	382	2									
DPP4	1803	broad.mit.edu	37	chr2	162875264	162875264	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catctcagctgataatacttCgcctctttactgaatgacac	5	12	2	3			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:162875264C>T	ENST00000360534.3	-	16	1955	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	465					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.A465A(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GATAATACTTCGCCTCTTTAC	0.473													False	0	False	2:162875264	0	T	162875264	C	T	162875264	2	4	132	1	0	0	0	0	0	0	0	1	4759	871	31	1		1	DPP4	2	162875264	Silent	SNP	C	TCGA-US-A774-01A-21D-A32N-08	14217817	162875264	80324109	19	32946											
ITGA4	3676	broad.mit.edu	37	chr2	182358062	182358062	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tattggatagatgttgctatCggagctccacaagaagatga	11	6	0	4			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:182358062C>T	ENST00000397033.2	+	11	1594	c.1164C>T	c.(1162-1164)atC>atT	p.I388I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	388					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATGTTGCTATCGGAGCTCCAC	0.353													False	0	False	2:182358062	0	T	182358062	C	T	182358062	2	4	132	1	0	0	0	0	0	0	0	1	7928	874	31	1		1	ITGA4	2	182358062	Silent	SNP	C	TCGA-US-A774-01A-21D-A32N-08	19482798	182358062	60841311	20	32947											
SCN11A	11280	broad.mit.edu	37	chr3	38913712	38913712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaaactgggacagcgcaCgaagaggcctcagtgctcgt	12	12	2	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:38913712C>T	ENST00000450244.1	-	20	3665	c.3467G>A	c.(3466-3468)cGt>cAt	p.R1156H	SCN11A_ENST00000456224.3_Missense_Mutation_p.R1118H|SCN11A_ENST00000444237.2_Missense_Mutation_p.R1156H|SCN11A_ENST00000302328.3_Missense_Mutation_p.R1156H			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1156					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGACAGCGCACGAAGAGGCCT	0.463													False	0	False	3:38913712	0	T	38913712	C	T	38913712	3	4	132	1	0	0	0	0	1	0	0	0	13994	536	19	1	1936	1	SCN11A	3	38913712	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08		38913712	159108718	21	32948											
RBM6	10180	broad.mit.edu	37	chr3	50095912	50095912	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggagccctatgtccgccttActactgccaacgtccgtatc	8	15	0	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:50095912A>G	ENST00000443081.1	+	10	2570	c.1651A>G	c.(1651-1653)Act>Gct	p.T551A	RBM6_ENST00000266022.4_Missense_Mutation_p.T683A|RBM6_ENST00000422955.1_Missense_Mutation_p.T161A|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Missense_Mutation_p.T25A|RBM6_ENST00000442092.1_Missense_Mutation_p.T161A			P78332	RBM6_HUMAN	RNA binding motif protein 6	683					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGTCCGCCTTACTACTGCCAA	0.498													False	0	False	3:50095912	0	G	50095912	A	G	50095912	3	3	132	1	0	0	0	0	1	0	0	0	13223	391	14	4	2081	4	RBM6	3	50095912	Missense_Mutation	SNP	A	TCGA-US-A774-01A-21D-A32N-08	11182200	50095912	147926518	22	32949											
STAB1	23166	broad.mit.edu	37	chr3	52548769	52548769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctggaggcccctggccGctcgctgattggtctgtcgg	15	13	1	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:52548769G>A	ENST00000321725.6	+	35	3807	c.3731G>A	c.(3730-3732)cGc>cAc	p.R1244H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1244	FAS1 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCCTGGCCGCTCGCTGATT	0.662													False	0	True	3:52548769	0	A	52548769	G	A	52548769	3	1	132	1	0	0	0	0	1	0	0	0	15319	1087	38	1	3869	1	STAB1	3	52548769	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	2452857	52548769	145473661	23	32950											
CCDC80	151887	broad.mit.edu	37	chr3	112357638	112357638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtcataggtcttgcaGcaactgttaccgcccgggac	13	11	2	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:112357638G>A	ENST00000206423.3	-	2	2068	c.1115C>T	c.(1114-1116)gCt>gTt	p.A372V	CCDC80_ENST00000439685.2_Missense_Mutation_p.A372V	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	372	Thr-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AGGTCTTGCAGCAACTGTTAC	0.642													False	0	False	3:112357638	0	A	112357638	G	A	112357638	3	1	132	1	0	0	0	0	1	0	0	0	2875	971	34	2	1765	2	CCDC80	3	112357638	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	59808869	112357638	85664792	24	32951											
B3GNT5	84002	broad.mit.edu	37	chr3	182988349	182988349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttaccctgactacacagccGgagctgcctatgtaatctcc	7	15	1	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:182988349G>A	ENST00000326505.3	+	2	1293	c.763G>A	c.(763-765)Gga>Aga	p.G255R	MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.G255R|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.G255R|MCF2L2_ENST00000447025.2_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	255					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTACACAGCCGGAGCTGCCTA	0.473													False	0	False	3:182988349	0	A	182988349	G	A	182988349	3	1	132	1	0	0	0	0	1	0	0	0	1264	1117	39	1	765	1	B3GNT5	3	182988349	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	70630711	182988349	15034081	25	32952											
LPP	4026	broad.mit.edu	37	chr3	188592235	188592235	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaactctgcccgcatcaggGtgttgaccgccaaggcgagc	13	14	2	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:188592235G>T	ENST00000312675.4	+	11	2053	c.1807G>T	c.(1807-1809)Gtg>Ttg	p.V603L	LPP_ENST00000543006.1_Missense_Mutation_p.V603L	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	603	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCGCATCAGGGTGTTGACCGC	0.512			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								False	0	True	3:188592235	0	T	188592235	G	T	188592235	3	4	132	1	0	0	0	0	1	0	0	0	8985	1261	44	3	1841	3	LPP	3	188592235	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	5603886	188592235	9430195	26	32953											
TADA2B	93624	broad.mit.edu	37	chr4	7056454	7056454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagagtacgaggcagcgcgGcataaacgggagaagaggaa	17	7	0	3			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:7056454G>A	ENST00000310074.7	+	2	1125	c.936G>A	c.(934-936)cgG>cgA	p.R312R	TADA2B_ENST00000512388.1_Silent_p.R237R|TADA2B_ENST00000515646.1_Silent_p.R220R	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	p.R312R(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						AGGCAGCGCGGCATAAACGGG	0.557													False	0	False	4:7056454	0	A	7056454	G	A	7056454	2	1	132	1	0	0	0	0	0	0	0	1	15593	1190	42	2		2	TADA2B	4	7056454	Silent	SNP	G	TCGA-US-A774-01A-21D-A32N-08		7056454	184097822	27	32954											
QDPR	5860	broad.mit.edu	37	chr4	17493886	17493886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcggctgccccgggcgGcatgccgctgttcttcccag	15	15	1	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:17493886G>A	ENST00000281243.5	-	5	693	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S	QDPR_ENST00000508623.1_Intron|QDPR_ENST00000428702.2_Missense_Mutation_p.P141S|QDPR_ENST00000513615.1_Intron	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	172					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	GCCCCGGGCGGCATGCCGCTG	0.642													False	0	False	4:17493886	0	A	17493886	G	A	17493886	3	1	132	1	0	0	0	0	1	0	0	0	12951	1203	42	2	232	2	QDPR	4	17493886	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	10437432	17493886	173660390	28	32955											
UGT2B28	54490	broad.mit.edu	37	chr4	70146575	70146575	+	Missense_Mutation	SNP	T	T	A													caagaaatcctgtgggaattTcatgacatatttagaaactt					rs145538643		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:70146575T>A	ENST00000335568.5	+	1	359	c.357T>A	c.(355-357)ttT>ttA	p.F119L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.F119L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	119					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TGTGGGAATTTCATGACATAT	0.303													False	0	True	4:70146575	0	A	70146575	T	A	70146575	3	1	132	1	0	0	0	0	1	0	0	0	17044	1780	62	5	359	5	UGT2B28	4	70146575	Missense_Mutation	SNP	T	TCGA-US-A774-01A-21D-A32N-08	52652689	70146575	121007701	29	32956	383	2	1	24		4	3	296	N	T_C	5.571469e-07
UGT2B28	54490	broad.mit.edu	37	chr4	70146576	70146576	+	Missense_Mutation	SNP	C	C	T													aagaaatcctgtgggaatttCatgacatatttagaaacttc							TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:70146576C>T	ENST00000335568.5	+	1	360	c.358C>T	c.(358-360)Cat>Tat	p.H120Y	UGT2B28_ENST00000511240.1_Missense_Mutation_p.H120Y	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	120					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GTGGGAATTTCATGACATATT	0.303													False	0	True	4:70146576	0	T	70146576	C	T	70146576	3	4	132	1	0	0	0	0	1	0	0	0	17044	826	29	2	360	2	UGT2B28	4	70146576	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	1	70146576	121007700	30	32957	383	2	1	24		4	3	296	N	T_C	5.571469e-07
UGT2B28	54490	broad.mit.edu	37	chr4	70146857	70146857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatggagagggtaaaaaaCatgatctatgtgctttattt	9	4	2	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:70146857C>T	ENST00000335568.5	+	1	641	c.639C>T	c.(637-639)aaC>aaT	p.N213N	UGT2B28_ENST00000511240.1_Silent_p.N213N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	213					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GGGTAAAAAACATGATCTATG	0.348													False	0	True	4:70146857	0	T	70146857	C	T	70146857	2	4	132	1	0	0	0	0	0	0	0	1	17044	477	17	2		2	UGT2B28	4	70146857	Silent	SNP	C	TCGA-US-A774-01A-21D-A32N-08	281	70146857	121007419	31	32958			1	24		4	3	296	N	T_C	5.571469e-07
UGT2B28	54490	broad.mit.edu	37	chr4	70146870	70146870	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taaaaaacatgatctatgtgCtttattttgacttttggttc	6	5	1	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:70146870C>A	ENST00000335568.5	+	1	654	c.652C>A	c.(652-654)Ctt>Att	p.L218I	UGT2B28_ENST00000511240.1_Missense_Mutation_p.L218I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	218					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GATCTATGTGCTTTATTTTGA	0.348													False	0	True	4:70146870	0	A	70146870	C	A	70146870	3	1	132	1	0	0	0	0	1	0	0	0	17044	797	28	3	654	3	UGT2B28	4	70146870	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	13	70146870	121007406	32	32959			1	24		4	3	296	N	T_C	5.571469e-07
BDH2	56898	broad.mit.edu	37	chr4	104000881	104000881	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaagctccagcctccatcaAtgatgacagggttaccagtt	8	12	1	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:104000881A>G	ENST00000296424.4	-	10	836	c.716T>C	c.(715-717)aTt>aCt	p.I239T		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	239					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GCCTCCATCAATGATGACAGG	0.438													False	0	False	4:104000881	0	G	104000881	A	G	104000881	3	3	132	1	0	0	0	0	1	0	0	0	1395	101	4	4	25	4	BDH2	4	104000881	Missense_Mutation	SNP	A	TCGA-US-A774-01A-21D-A32N-08	33854011	104000881	87153395	33	32960											
RRH	10692	broad.mit.edu	37	chr4	110756591	110756591	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggtcgtggctgtggacCgatacctgaccatctgcctt	11	13	2	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:110756591C>T	ENST00000317735.4	+	3	401	c.367C>T	c.(367-369)Cga>Tga	p.R123*		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	123					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGCTGTGGACCGATACCTGAC	0.393													False	0	False	4:110756591	0	T	110756591	C	T	110756591	4	4	132	1	0	0	0	0	0	1	0	0	13759	644	23	1	377	1	RRH	4	110756591	Nonsense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	6755710	110756591	80397685	34	32961											
SPEF2	79925	broad.mit.edu	37	chr5	35793392	35793392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacccttcagaagttcaaGgctgtggataaggagcagtt	13	7	2	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:35793392G>A	ENST00000440995.2	+	32	4671	c.4671G>A	c.(4669-4671)aaG>aaA	p.K1557K	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Silent_p.K359K|SPEF2_ENST00000356031.3_Silent_p.K1562K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1562					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAGTTCAAGGCTGTGGATA	0.507													False	0	False	5:35793392	0	A	35793392	G	A	35793392	2	1	132	1	0	0	0	0	0	0	0	1	15117	991	35	2		2	SPEF2	5	35793392	Silent	SNP	G	TCGA-US-A774-01A-21D-A32N-08		35793392	145121868	35	32962											
ZCCHC9	84240	broad.mit.edu	37	chr5	80607084	80607084	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttaaagaaagattgccctgAaagtcagaattcaggtgaga	10	5	2	5			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:80607084A>C	ENST00000254037.2	+	4	3838	c.683A>C	c.(682-684)gAa>gCa	p.E228A	ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.E228A|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.E228A|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.E228A			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	228							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		GATTGCCCTGAAAGTCAGAAT	0.413													False	0	True	5:80607084	0	C	80607084	A	C	80607084	3	2	132	1	0	0	0	0	1	0	0	0	17678	246	9	4	697	4	ZCCHC9	5	80607084	Missense_Mutation	SNP	A	TCGA-US-A774-01A-21D-A32N-08	44813692	80607084	100308176	36	32963											
NR2F1	7025	broad.mit.edu	37	chr5	92929289	92929289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgtggcctgtcggatgCggcccacatcgagagcctgc	14	15	0	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:92929289C>T	ENST00000327111.3	+	3	2700	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	338					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTGTCGGATGCGGCCCACATC	0.592													False	0	False	5:92929289	0	T	92929289	C	T	92929289	3	4	132	1	0	0	0	0	1	0	0	0	10695	768	27	1	1023	1	NR2F1	5	92929289	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	12322205	92929289	87985971	37	32964											
PCDHGB4	0	broad.mit.edu	37	chr5	140768992	140768992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagcggggtggtgttcgCgcagcgcgccttcgaccacg	18	12	0	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:140768992C>T	ENST00000519479.1	+	1	1541	c.1541C>T	c.(1540-1542)gCg>gTg	p.A514V	PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGTTCGCGCAGCGCGCC	0.667													False	0	False	5:140768992	0	T	140768992	C	T	140768992	3	4	132	1	0	0	0	0	1	0	0	0	11633	768	27	1	1543	1	PCDHGB4	5	140768992	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	47839703	140768992	40146268	38	32965											
PCDHGA10	0	broad.mit.edu	37	chr5	140792948	140792948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggcggagcgcggagtccGcatagtctccagaggtagga	17	10	1	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:140792948G>A	ENST00000398610.2	+	1	206	c.206G>A	c.(205-207)cGc>cAc	p.R69H	PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGTCCGCATAGTCTCC	0.607													False	0	False	5:140792948	0	A	140792948	G	A	140792948	3	1	132	1	0	0	0	0	1	0	0	0	11619	1087	38	1	208	1	PCDHGA10	5	140792948	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	23956	140792948	40122312	39	32966											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017899	26017899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtttctttgccttcttgCcagctaaaggtttctcagga	9	10	3	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:26017899C>T	ENST00000244573.3	-	1	141	c.62G>A	c.(61-63)gGc>gAc	p.G21D		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	21					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TGCCTTCTTGCCAGCTAAAGG	0.542											OREG0017237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	6:26017899	0	T	26017899	C	T	26017899	3	4	132	1	0	0	0	0	1	0	0	0	7169	739	26	2	589	2	HIST1H1A	6	26017899	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08		26017899	145097168	40	32967											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839741	27839741	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttaggcataatagtgAcgcgtttggcgtgaatggcg	14	6	1	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:27839741A>C	ENST00000328488.2	-	1	358	c.353T>G	c.(352-354)gTc>gGc	p.V118G		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	118					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CATAATAGTGACGCGTTTGGC	0.567													False	0	False	6:27839741	0	C	27839741	A	C	27839741	3	2	132	1	0	0	0	0	1	0	0	0	7210	275	10	4	61	4	HIST1H3I	6	27839741	Missense_Mutation	SNP	A	TCGA-US-A774-01A-21D-A32N-08	1821842	27839741	143275326	41	32968											
LSM2	57819	broad.mit.edu	37	chr6	31765568	31765568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagggcttccttccttgccGcatcctgtagcaactgtgtg	11	13	0	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:31765568G>A	ENST00000375661.5	-	5	480	c.254C>T	c.(253-255)gCg>gTg	p.A85V	LSM2_ENST00000491421.1_5'UTR	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	85					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding			large_intestine(1)|lung(1)	2						CTTCCTTGCCGCATCCTGTAG	0.542													False	0	False	6:31765568	0	A	31765568	G	A	31765568	3	1	132	1	0	0	0	0	1	0	0	0	9118	1087	38	1	37	1	LSM2	6	31765568	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	3925827	31765568	139349499	42	32969											
TAP1	6890	broad.mit.edu	37	chr6	32820252	32820252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatccagtcagtgaggcggCccgtaaagaatggaatggcc	14	9	1	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:32820252C>T	ENST00000354258.4	-	2	967	c.806G>A	c.(805-807)gGc>gAc	p.G269D	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.G8D	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	269	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						AGTGAGGCGGCCCGTAAAGAA	0.507													False	0	True	6:32820252	0	T	32820252	C	T	32820252	3	4	132	1	0	0	0	0	1	0	0	0	15632	739	26	2	1660	2	TAP1	6	32820252	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	1054684	32820252	138294815	43	32970											
MTO1	25821	broad.mit.edu	37	chr6	74171682	74171682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcggcgccccggactccGcacttcgacgtgatagtcat	12	15	1	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:74171682G>A	ENST00000498286.1	+	1	382	c.105G>A	c.(103-105)ccG>ccA	p.P35P	MTO1_ENST00000370300.4_Silent_p.P35P|MTO1_ENST00000415954.2_Silent_p.P35P|MTO1_ENST00000370305.1_Intron			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	35					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						CCCGGACTCCGCACTTCGACG	0.647													False	0	False	6:74171682	0	A	74171682	G	A	74171682	2	1	132	1	0	0	0	0	0	0	0	1	10020	1074	38	1		1	MTO1	6	74171682	Silent	SNP	G	TCGA-US-A774-01A-21D-A32N-08	41351430	74171682	96943385	44	32971											
GPR6	0	broad.mit.edu	37	chr6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-													tggtagtggcggccgaaggaGcggcggcggcggccacagca							TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.					integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712													False	1	True	6:110300376	0	-	110300435	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	110300376	7	5	132	1	0	1	0	1	0	0	0	0	6747	971	34	0	63	0	GPR6	6	110300376	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	TCGA-US-A774-01A-21D-A32N-08	36128694	110300376	60814691	45	32972											
MUC17	140453	broad.mit.edu	37	chr7	100683951	100683951	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacttctactgaagtcagttCatctcctacacctgctgaag	6	13	4	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:100683951C>T	ENST00000306151.4	+	3	9318	c.9254C>T	c.(9253-9255)tCa>tTa	p.S3085L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3085	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3085*(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGTCAGTTCATCTCCTACA	0.522													False	0	False	7:100683951	0	T	100683951	C	T	100683951	3	4	132	1	0	0	0	0	1	0	0	0	10041	838	29	2	9264	2	MUC17	7	100683951	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08		100683951	58454712	46	32973											
RELN	5649	broad.mit.edu	37	chr7	103629780	103629780	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctaggaggaaagtctgCcgggcccagccactgcgctc	14	14	1	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:103629780C>T	ENST00000428762.1	-	1	183	c.24G>A	c.(22-24)cgG>cgA	p.R8R	RELN_ENST00000424685.2_Silent_p.R8R|RELN_ENST00000343529.5_Silent_p.R8R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	8					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAAAGTCTGCCGGGCCCAGC	0.716													False	0	False	7:103629780	0	T	103629780	C	T	103629780	2	4	132	1	0	0	0	0	0	0	0	1	13299	726	26	2		2	RELN	7	103629780	Silent	SNP	C	TCGA-US-A774-01A-21D-A32N-08	2945829	103629780	55508883	47	32974											
ZNF277	11179	broad.mit.edu	37	chr7	111926929	111926929	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttttggtctattccagaCagtaaggattgtatcctgga	9	6	1	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:111926929C>T	ENST00000421043.1	+	2	113	c.93C>T	c.(91-93)gaC>gaT	p.D31D	ZNF277_ENST00000450657.1_Splice_Site_p.D31D|ZNF277_ENST00000361822.3_Splice_Site_p.D31D			Q9NRM2	ZN277_HUMAN	zinc finger protein 277	31						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CTATTCCAGACAGTAAGGATT	0.408													False	0	False	7:111926929	0	T	111926929	C	T	111926929	5	4	132	1	0	0	0	0	0	0	1	0	17895	492	17	2	99	2	ZNF277	7	111926929	Splice_Site	SNP	C	TCGA-US-A774-01A-21D-A32N-08	8297149	111926929	47211734	48	32975											
RP1L1	94137	broad.mit.edu	37	chr8	10465032	10465032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcctctataccttctgaCtctggctgggcctccccttc	10	16	3	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:10465032C>T	ENST00000382483.3	-	4	6799	c.6576G>A	c.(6574-6576)gaG>gaA	p.E2192E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2192					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TACCTTCTGACTCTGGCTGGG	0.612													False	0	False	8:10465032	0	T	10465032	C	T	10465032	2	4	132	1	0	0	0	0	0	0	0	1	13612	564	20	2		2	RP1L1	8	10465032	Silent	SNP	C	TCGA-US-A774-01A-21D-A32N-08		10465032	135898990	49	32976											
EGR3	1960	broad.mit.edu	37	chr8	22548167	22548167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaaagggcttctcgcccGtatgagtgcggatgtgagtg	16	8	1	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:22548167G>A	ENST00000317216.2	-	2	1340	c.983C>T	c.(982-984)aCg>aTg	p.T328M	EGR3_ENST00000522910.1_Missense_Mutation_p.T290M|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	328					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CTTCTCGCCCGTATGAGTGCG	0.632													False	0	True	8:22548167	0	A	22548167	G	A	22548167	3	1	132	1	0	0	0	0	1	0	0	0	5003	1145	40	1	184	1	EGR3	8	22548167	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	12083135	22548167	123815855	50	32977											
KCTD9	54793	broad.mit.edu	37	chr8	25293809	25293809	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aaaatcggacaaattcctttCgggatattggtgaatgatcc	9	7	0	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:25293809C>A	ENST00000221200.4	-	8	825	c.605G>T	c.(604-606)cGa>cTa	p.R202L		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	202						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		AAATTCCTTTCGGGATATTGG	0.378													False	0	True	8:25293809	0	A	25293809	C	A	25293809	3	1	132	1	0	0	0	0	1	0	0	0	8166	884	31	3	584	3	KCTD9	8	25293809	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	2745642	25293809	121070213	51	32978											
ST18	9705	broad.mit.edu	37	chr8	53028835	53028835	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttctggccttgaacttacCatctgtggaagctggatgtc	12	9	2	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:53028835C>A	ENST00000276480.7	-	25	3686	c.3003G>T	c.(3001-3003)atG>atT	p.M1001I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	1001						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTGAACTTACCATCTGTGGAA	0.478													False	0	False	8:53028835	0	A	53028835	C	A	53028835	5	1	132	1	0	0	0	0	0	0	1	0	15294	608	21	3	148	3	ST18	8	53028835	Splice_Site	SNP	C	TCGA-US-A774-01A-21D-A32N-08	27735026	53028835	93335187	52	32979											
RAD54B	25788	broad.mit.edu	37	chr8	95384604	95384605	+	Translation_Start_Site	INS	-	-	TGGAGATCATTTAAATCTTACAGATCCTTTT													ctagagacaatgaatttttcINScaacgaatcacctgtaataa							TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:95384604_95384605insTGGAGATCATTTAAATCTTACAGATCCTTTT	ENST00000519348.1	-	0	89_90				RAD54B_ENST00000336148.5_Frame_Shift_Ins_p.E843fs			O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)						double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATGAATTTTTCCAACGAATCAC	0.351								Direct reversal of damage;Homologous recombination					False	0	False	8:95384604	0	TGGAGATCATTTAAATCTTACAGATCCTTTT	95384605	-	TGGAGATCATTTAAATCTTACAGATCCTTTT	95384604	6	5	132	1	0	1	1	0	0	0	0	0	13071	864	30	0		0	RAD54B	8	95384604	Translation_Start_Site	INS	-	TCGA-US-A774-01A-21D-A32N-08	42355769	95384604	50979418	53	32980											
EXOSC4	54512	broad.mit.edu	37	chr8	145134931	145134931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccttcagcacaggtgagcGcaagcgacggccacatgggg	15	12	1	1	rs139537728		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:145134931G>A	ENST00000316052.5	+	2	360	c.257G>A	c.(256-258)cGc>cAc	p.R86H	EXOSC4_ENST00000525936.1_Intron	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	86					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGGTGAGCGCAAGCGACGG	0.622													False	0	False	8:145134931	0	A	145134931	G	A	145134931	3	1	132	1	0	0	0	0	1	0	0	0	5349	1087	38	1	263	1	EXOSC4	8	145134931	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	49750327	145134931	1229091	54	32981											
FOXD4	2298	broad.mit.edu	37	chr9	117757	117757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcgtgaggcgcttgtgCgggctttgcaggatggccat	17	9	0	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:117757C>T	ENST00000382500.2	-	1	660	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	121					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGCGCTTGTGCGGGCTTTGCA	0.652													False	0	True	9:117757	0	T	117757	C	T	117757	2	4	132	1	0	0	0	0	0	0	0	1	6039	755	27	1		1	FOXD4	9	117757	Silent	SNP	C	TCGA-US-A774-01A-21D-A32N-08		117757	141095674	55	32982											
TAF1L	138474	broad.mit.edu	37	chr9	32632378	32632378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaaaaccttgatccacggGcaaatttactcatgggcccc	8	13	1	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:32632378G>A	ENST00000242310.4	-	1	3289	c.3200C>T	c.(3199-3201)gCc>gTc	p.A1067V		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1067					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.A1067V(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGATCCACGGGCAAATTTACT	0.468													False	0	True	9:32632378	0	A	32632378	G	A	32632378	3	1	132	1	0	0	0	0	1	0	0	0	15605	1203	42	2	2284	2	TAF1L	9	32632378	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	32514621	32632378	108581053	56	32983											
PTGES2	80142	broad.mit.edu	37	chr9	130885345	130885345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagcctcggtgggcgtgCggtacacattgggggagatc	17	10	0	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:130885345C>T	ENST00000338961.6	-	5	1499	c.755G>A	c.(754-756)cGc>cAc	p.R252H	PTGES2_ENST00000483625.1_5'UTR|PTGES2_ENST00000277462.5_Missense_Mutation_p.R61H	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	252					cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						GGTGGGCGTGCGGTACACATT	0.657													False	0	False	9:130885345	0	T	130885345	C	T	130885345	3	4	132	1	0	0	0	0	1	0	0	0	12824	768	27	1	390	1	PTGES2	9	130885345	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	98252967	130885345	10328086	57	32984											
DCLRE1C	64421	broad.mit.edu	37	chr10	14976718	14976718	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacccgacttggaatttggTaaaatcttggatcacagaac	8	8	2	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:14976718T>C	ENST00000453695.2	-	7	605	c.161A>G	c.(160-162)tAc>tGc	p.Y54C	DCLRE1C_ENST00000378255.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.Y174C|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.Y174C|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.Y54C	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	174					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TGGAATTTGGTAAAATCTTGG	0.398								Non-homologous end-joining					False	0	True	10:14976718	0	C	14976718	T	C	14976718	3	2	132	1	0	0	0	0	1	0	0	0	4321	1638	57	4	1589	4	DCLRE1C	10	14976718	Missense_Mutation	SNP	T	TCGA-US-A774-01A-21D-A32N-08		14976718	120558029	58	32985											
GPR158	57512	broad.mit.edu	37	chr10	25510077	25510077	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcataaatgccacctcaaCaattcagaggtaagaagatg	7	9	3	3			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:25510077C>A	ENST00000376351.3	+	2	1358	c.999C>A	c.(997-999)aaC>aaA	p.N333K		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	333						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCACCTCAACAATTCAGAGG	0.363													False	0	False	10:25510077	0	A	25510077	C	A	25510077	3	1	132	1	0	0	0	0	1	0	0	0	6709	477	17	3	1005	3	GPR158	10	25510077	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	10533359	25510077	110024670	59	32986											
RBP3	5949	broad.mit.edu	37	chr10	48387849	48387849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcacaattccaggaatgCggtccttggcattctcaggg	13	10	1	0	rs149031179		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:48387849C>T	ENST00000224600.4	-	1	3142	c.3029G>A	c.(3028-3030)cGc>cAc	p.R1010H		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1010	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.R1010H(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCAGGAATGCGGTCCTTGGC	0.597													False	0	False	10:48387849	0	T	48387849	C	T	48387849	3	4	132	1	0	0	0	0	1	0	0	0	13236	768	27	1	730	1	RBP3	10	48387849	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	22877772	48387849	87146898	60	32987											
NRAP	4892	broad.mit.edu	37	chr10	115374632	115374632	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccagaagcctttgctgctTggaatggaagggcatccaac	11	11	0	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:115374632T>A	ENST00000369358.4	-	28	3420	c.3176A>T	c.(3175-3177)cAa>cTa	p.Q1059L	NRAP_ENST00000359988.3_Missense_Mutation_p.Q1051L|NRAP_ENST00000369360.3_Missense_Mutation_p.Q1024L|NRAP_ENST00000360478.3_Missense_Mutation_p.Q1016L			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1051						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTTTGCTGCTTGGAATGGAAG	0.468													False	0	True	10:115374632	0	A	115374632	T	A	115374632	3	1	132	1	0	0	0	0	1	0	0	0	10706	1812	63	5	2100	5	NRAP	10	115374632	Missense_Mutation	SNP	T	TCGA-US-A774-01A-21D-A32N-08	66986783	115374632	20160115	61	32988											
EIF3A	8661	broad.mit.edu	37	chr10	120802027	120802027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttcccctgtcttcatcgGcaattcgtctgggaggcctg	11	12	3	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:120802027G>A	ENST00000369144.3	-	19	3132	c.3005C>T	c.(3004-3006)gCc>gTc	p.A1002V	EIF3A_ENST00000541549.1_Missense_Mutation_p.A968V	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1002	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTCTTCATCGGCAATTCGTCT	0.567													False	0	False	10:120802027	0	A	120802027	G	A	120802027	3	1	132	1	0	0	0	0	1	0	0	0	5042	1203	42	2	1159	2	EIF3A	10	120802027	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	5427395	120802027	14732720	62	32989											
DHX32	55760	broad.mit.edu	37	chr10	127540897	127540897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcacagtggcctaggcccGcaatgtctatcctcttcata	8	13	4	0	rs143704757		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:127540897G>A	ENST00000284690.3	-	6	1806	c.1316C>T	c.(1315-1317)gCg>gTg	p.A439V	BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.A63V|DHX32_ENST00000284688.6_Missense_Mutation_p.A358V	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	439						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCCTAGGCCCGCAATGTCTAT	0.498													False	0	True	10:127540897	0	A	127540897	G	A	127540897	3	1	132	1	0	0	0	0	1	0	0	0	4535	1087	38	1	939	1	DHX32	10	127540897	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	6738870	127540897	7993850	63	32990											
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	18	8	0	3			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:281566A>G	ENST00000534750.1	+	4	2037	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662													False	0	True	11:281566	0	G	281566	A	G	281566	3	3	132	1	0	0	0	0	1	0	0	0	10549	304	11	4	1846	4	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-US-A774-01A-21D-A32N-08		281566	134724950	64	32991											
RBMXL2	27288	broad.mit.edu	37	chr11	7111053	7111053	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggggttttgccccctcGcccggagagtacacccaccg	11	19	0	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:7111053G>A	ENST00000306904.5	+	1	889	c.702G>A	c.(700-702)tcG>tcA	p.S234S		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	234	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTGCCCCCTCGCCCGGAGAGT	0.687													False	0	True	11:7111053	0	A	7111053	G	A	7111053	2	1	132	1	0	0	0	0	0	0	0	1	13233	1074	38	1		1	RBMXL2	11	7111053	Silent	SNP	G	TCGA-US-A774-01A-21D-A32N-08	6829487	7111053	127895463	65	32992											
TTC17	55761	broad.mit.edu	37	chr11	43429013	43429013	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agggctttgaatttagctccActtcaataccaagatgttcc	7	10	1	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:43429013A>T	ENST00000039989.4	+	15	1964	c.1950A>T	c.(1948-1950)ccA>ccT	p.P650P	TTC17_ENST00000299240.6_Silent_p.P650P|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	650							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATTTAGCTCCACTTCAATACC	0.438													False	0	False	11:43429013	0	T	43429013	A	T	43429013	2	4	132	1	0	0	0	0	0	0	0	1	16768	146	6	5		5	TTC17	11	43429013	Silent	SNP	A	TCGA-US-A774-01A-21D-A32N-08	36317960	43429013	91577503	66	32993											
OR5D14	219436	broad.mit.edu	37	chr11	55563840	55563840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccaactccaaaaactctcGgcaaacagtcaaagtggcct	6	14	2	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:55563840G>A	ENST00000335605.1	+	1	809	c.809G>A	c.(808-810)cGg>cAg	p.R270Q		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AAAAACTCTCGGCAAACAGTC	0.478													False	0	False	11:55563840	0	A	55563840	G	A	55563840	3	1	132	1	0	0	0	0	1	0	0	0	11223	1116	39	1	811	1	OR5D14	11	55563840	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	12134827	55563840	79442676	67	32994											
DRAP1	10589	broad.mit.edu	37	chr11	65687891	65687891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttcccgacatgcagggggAcggggaagacaaccacatgg	15	10	0	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:65687891A>G	ENST00000312515.2	+	4	532	c.287A>G	c.(286-288)gAc>gGc	p.D96G	DRAP1_ENST00000532933.1_Missense_Mutation_p.D76G|DRAP1_ENST00000376991.2_Missense_Mutation_p.D96G|DRAP1_ENST00000527119.1_Missense_Mutation_p.D52G	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN	DR1-associated protein 1 (negative cofactor 2 alpha)	96					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		ATGCAGGGGGACGGGGAAGAC	0.637													False	0	True	11:65687891	0	G	65687891	A	G	65687891	3	3	132	1	0	0	0	0	1	0	0	0	4785	275	10	4	301	4	DRAP1	11	65687891	Missense_Mutation	SNP	A	TCGA-US-A774-01A-21D-A32N-08	10124051	65687891	69318625	68	32995											
ANKRD42	338699	broad.mit.edu	37	chr11	82936090	82936090	+	Frame_Shift_Del	DEL	T	T	-													gaaggaaaagacctagaggaTcaggaaagtaagtaattaag					rs143071836		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:82936090delT	ENST00000531895.1	+	6	1053	c.780delT	c.(778-780)gatfs	p.D260fs	ANKRD42_ENST00000393392.2_Frame_Shift_Del_p.D232fs|ANKRD42_ENST00000260047.6_Frame_Shift_Del_p.D259fs|ANKRD42_ENST00000533342.1_Frame_Shift_Del_p.D260fs			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	232										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACCTAGAGGATCAGGAAAGTA	0.333													False	1	False	11:82936090	0	-	82936090	T	-	82936090	7	5	132	1	0	1	0	1	0	0	0	0	670	1432	50	0	718	0	ANKRD42	11	82936090	Frame_Shift_Del	DEL	T	TCGA-US-A774-01A-21D-A32N-08	17248199	82936090	52070426	69	32996											
PANX1	24145	broad.mit.edu	37	chr11	93913034	93913034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaaactcattgccgtggGcatcttccagttgctcagtg	11	11	3	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:93913034G>A	ENST00000227638.3	+	4	1197	c.812G>A	c.(811-813)gGc>gAc	p.G271D	PANX1_ENST00000436171.2_Missense_Mutation_p.G271D	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	271					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATTGCCGTGGGCATCTTCCAG	0.502													False	0	True	11:93913034	0	A	93913034	G	A	93913034	3	1	132	1	0	0	0	0	1	0	0	0	11488	1203	42	2	826	2	PANX1	11	93913034	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	10976944	93913034	41093482	70	32997											
SIK3	23387	broad.mit.edu	37	chr11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-													ggtattcttgctgttgctgcTgttgctgctgctgctgccgt					rs539858	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:116729011_116729013delTGT	ENST00000446921.2	-	20	2865_2867	c.2844_2846delACA	c.(2842-2847)caacag>cag	p.948_949QQ>Q	SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596													False	1	True	11:116729011	0	-	116729013	TGT	-	116729011	7	5	132	1	0	1	0	1	0	0	0	0	14400	1580	55	0	955	0	SIK3	11	116729011	In_Frame_Del	DEL	TGT	TCGA-US-A774-01A-21D-A32N-08	22815977	116729011	18277505	71	32998											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	132	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08		25398284	108453611	72	32999											
DNM1L	10059	broad.mit.edu	37	chr12	32884346	32884346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagttactggtgaagcgGcaaatcaaacgtctagaaga	11	6	2	4			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:32884346G>A	ENST00000452533.2	+	11	1421	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000266481.6_Silent_p.R419R|DNM1L_ENST00000549701.1_Silent_p.R419R|DNM1L_ENST00000414834.2_Silent_p.R216R|DNM1L_ENST00000547312.1_Silent_p.R419R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Silent_p.R432R|DNM1L_ENST00000358214.5_Silent_p.R432R	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	419	Middle domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGTGAAGCGGCAAATCAAAC	0.418													False	0	False	12:32884346	0	A	32884346	G	A	32884346	2	1	132	1	0	0	0	0	0	0	0	1	4701	1190	42	2		2	DNM1L	12	32884346	Silent	SNP	G	TCGA-US-A774-01A-21D-A32N-08	7486062	32884346	100967549	73	33000											
DDX23	9416	broad.mit.edu	37	chr12	49224974	49224974	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acaaccatagacacatcttgGatgtcaataccacgaccagc	6	13	2	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:49224974G>C	ENST00000308025.3	-	16	2269	c.2190C>G	c.(2188-2190)atC>atG	p.I730M		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	730	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ACACATCTTGGATGTCAATAC	0.468													False	0	False	12:49224974	0	C	49224974	G	C	49224974	3	2	132	1	0	0	0	0	1	0	0	0	4375	1164	41	5	280	5	DDX23	12	49224974	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	16340628	49224974	84626921	74	33001											
ARF3	377	broad.mit.edu	37	chr12	49334797	49334797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggatggtggtctttcctgCggcatccaggcccaccatca	11	13	2	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:49334797C>T	ENST00000256682.4	-	2	416	c.82G>A	c.(82-84)Gca>Aca	p.A28T	ARF3_ENST00000447318.2_Missense_Mutation_p.A28T|RP11-302B13.5_ENST00000398092.4_Missense_Mutation_p.A28T|ARF3_ENST00000541959.1_Missense_Mutation_p.A28T	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	28					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity			endometrium(1)|lung(2)|skin(1)	4						GTCTTTCCTGCGGCATCCAGG	0.527													False	0	False	12:49334797	0	T	49334797	C	T	49334797	3	4	132	1	0	0	0	0	1	0	0	0	847	768	27	1	479	1	ARF3	12	49334797	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	109823	49334797	84517098	75	33002											
TRHDE	29953	broad.mit.edu	37	chr12	72667194	72667194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggttttttcctctacccGcaaacccaggtcttagtggt	9	13	2	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:72667194G>A	ENST00000261180.4	+	1	732	c.636G>A	c.(634-636)ccG>ccA	p.P212P	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	212					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCCTCTACCCGCAAACCCAGG	0.567													False	0	True	12:72667194	0	A	72667194	G	A	72667194	2	1	132	1	0	0	0	0	0	0	0	1	16562	1074	38	1		1	TRHDE	12	72667194	Silent	SNP	G	TCGA-US-A774-01A-21D-A32N-08	23332397	72667194	61184701	76	33003											
TNFRSF19	55504	broad.mit.edu	37	chr13	24242948	24242948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcccatgggtggtgacaaCatctctttttgtgactctta	8	9	2	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr13:24242948C>T	ENST00000382263.3	+	9	1141	c.957C>T	c.(955-957)aaC>aaT	p.N319N	TNFRSF19_ENST00000248484.4_Silent_p.N319N|TNFRSF19_ENST00000382258.4_Silent_p.N319N|TNFRSF19_ENST00000403372.2_Silent_p.N187N	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	319					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTGGTGACAACATCTCTTTTT	0.478													False	0	False	13:24242948	0	T	24242948	C	T	24242948	2	4	132	1	0	0	0	0	0	0	0	1	16374	477	17	2		2	TNFRSF19	13	24242948	Silent	SNP	C	TCGA-US-A774-01A-21D-A32N-08		24242948	90926930	77	33004											
ATP11A	23250	broad.mit.edu	37	chr13	113487219	113487219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctctgtctctgccacaccGtccaggtgaaagacgatgac	9	15	2	3			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr13:113487219G>A	ENST00000487903.1	+	14	1529	c.1441G>A	c.(1441-1443)Gtc>Atc	p.V481I	ATP11A_ENST00000375645.3_Missense_Mutation_p.V481I|ATP11A_ENST00000375630.2_Missense_Mutation_p.V481I|ATP11A_ENST00000283558.8_Missense_Mutation_p.V481I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	481					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTGCCACACCGTCCAGGTGAA	0.582													False	0	False	13:113487219	0	A	113487219	G	A	113487219	3	1	132	1	0	0	0	0	1	0	0	0	1123	1145	40	1	1495	1	ATP11A	13	113487219	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	89244271	113487219	1682659	78	33005											
LTB4R	1241	broad.mit.edu	37	chr14	24785056	24785056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccctggccgacctggccGtattgctcactgctcccttt	10	16	1	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:24785056G>A	ENST00000396789.4	+	2	1924	c.199G>A	c.(199-201)Gta>Ata	p.V67I	LTB4R_ENST00000396782.2_Missense_Mutation_p.V67I|LTB4R_ENST00000345363.3_Missense_Mutation_p.V67I	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	67					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CGACCTGGCCGTATTGCTCAC	0.577													False	0	False	14:24785056	0	A	24785056	G	A	24785056	3	1	132	1	0	0	0	0	1	0	0	0	9133	1145	40	1	201	1	LTB4R	14	24785056	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08		24785056	82564484	79	33006											
KCNH5	27133	broad.mit.edu	37	chr14	63511901	63511901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccctctcttgccccccgGcatcctgggtctggagagca	11	17	2	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:63511901G>A	ENST00000322893.7	-	1	272	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	KCNH5_ENST00000420622.2_Missense_Mutation_p.P2S|KCNH5_ENST00000394964.2_Intron|KCNH5_ENST00000394968.1_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	2					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGCCCCCCGGCATCCTGGGT	0.602													False	0	False	14:63511901	0	A	63511901	G	A	63511901	3	1	132	1	0	0	0	0	1	0	0	0	8085	1203	42	2	3040	2	KCNH5	14	63511901	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	38726845	63511901	43837639	80	33007											
IGDCC3	9543	broad.mit.edu	37	chr15	65627671	65627671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggctgatccggatactggCgatgtttgaggccacacagt	14	9	0	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr15:65627671C>T	ENST00000327987.4	-	4	894	c.643G>A	c.(643-645)Gcc>Acc	p.A215T		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	215	Ig-like C2-type 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGGATACTGGCGATGTTTGAG	0.607													False	0	False	15:65627671	0	T	65627671	C	T	65627671	3	4	132	1	0	0	0	0	1	0	0	0	7618	768	27	1	1845	1	IGDCC3	15	65627671	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08		65627671	36903721	81	33008											
ZP2	7783	broad.mit.edu	37	chr16	21209136	21209136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctactcttctccccactGctcccacttgcttttagatc	3	18	2	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:21209136G>T	ENST00000574002.1	-	19	2528	c.2046C>A	c.(2044-2046)agC>agA	p.S682R	ZP2_ENST00000574091.1_Missense_Mutation_p.S673R|ZP2_ENST00000219593.4_Missense_Mutation_p.S682R|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	682					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCTCCCCACTGCTCCCACTTG	0.468													False	0	False	16:21209136	0	T	21209136	G	T	21209136	3	4	132	1	0	0	0	0	1	0	0	0	18298	1310	46	3	199	3	ZP2	16	21209136	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08		21209136	69145617	82	33009											
PRKCB	5579	broad.mit.edu	37	chr16	24104167	24104167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggcctgtcagatccctaCgtaaaactgaaactgattcc	7	11	1	3			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:24104167C>T	ENST00000303531.7	+	6	737	c.585C>T	c.(583-585)taC>taT	p.Y195Y	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000321728.7_Silent_p.Y195Y	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	195	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CAGATCCCTACGTAAAACTGA	0.408													False	0	False	16:24104167	0	T	24104167	C	T	24104167	2	4	132	1	0	0	0	0	0	0	0	1	12584	547	19	1		1	PRKCB	16	24104167	Silent	SNP	C	TCGA-US-A774-01A-21D-A32N-08	2895031	24104167	66250586	83	33010											
CAPNS2	84290	broad.mit.edu	37	chr16	55601209	55601209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggggagctctgcaggccGcaggcttccagctaaatgaa	14	11	1	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:55601209G>A	ENST00000457326.2	+	1	626	c.541G>A	c.(541-543)Gca>Aca	p.A181T	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	181	EF-hand 2.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TCTGCAGGCCGCAGGCTTCCA	0.463													False	0	False	16:55601209	0	A	55601209	G	A	55601209	3	1	132	1	0	0	0	0	1	0	0	0	2654	1087	38	1	543	1	CAPNS2	16	55601209	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	31497042	55601209	34753544	84	33011											
CCDC102A	92922	broad.mit.edu	37	chr16	57552093	57552093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtctccgacctgtgcccGcagcttcttgttctcccgct	9	17	3	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:57552093G>A	ENST00000258214.2	-	6	1381	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	379										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						ACCTGTGCCCGCAGCTTCTTG	0.701													False	0	True	16:57552093	0	A	57552093	G	A	57552093	3	1	132	1	0	0	0	0	1	0	0	0	2756	1086	38	1	533	1	CCDC102A	16	57552093	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	1950884	57552093	32802660	85	33012											
COG8	84342	broad.mit.edu	37	chr16	69368827	69368827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccaggtggccgcctatgCcccggtaaaggtcggtctcc	13	14	1	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:69368827C>T	ENST00000306875.4	-	3	1124	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	COG8_ENST00000562081.1_Missense_Mutation_p.G337D	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	337					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GCCGCCTATGCCCCGGTAAAG	0.582													False	0	True	16:69368827	0	T	69368827	C	T	69368827	3	4	132	1	0	0	0	0	1	0	0	0	3687	739	26	2	840	2	COG8	16	69368827	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	11816734	69368827	20985926	86	33013											
TUBB3	10381	broad.mit.edu	37	chr16	90001998	90001998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccaggagctgttcaagcGcatctccgagcagttcacgg	11	13	3	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:90001998G>A	ENST00000304984.5	+	3	3218	c.923G>A	c.(922-924)cGc>cAc	p.R308H	TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000315491.7_Missense_Mutation_p.R380H|TUBB3_ENST00000554444.1_Missense_Mutation_p.R308H|TUBB3_ENST00000556922.1_Missense_Mutation_p.R727H			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	380					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CTGTTCAAGCGCATCTCCGAG	0.627													False	0	False	16:90001998	0	A	90001998	G	A	90001998	3	1	132	1	0	0	0	0	1	0	0	0	16841	1087	38	1	1153	1	TUBB3	16	90001998	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	20633171	90001998	352755	87	33014											
TP53	7157	broad.mit.edu	37	chr17	7578404	7578404	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgctcatggtgggggcAgcgcctcacaacctccgtca	13	15	3	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:7578404A>C	ENST00000420246.2	-	5	658	c.526T>G	c.(526-528)Tgc>Ggc	p.C176G	TP53_ENST00000359597.4_Missense_Mutation_p.C176G|TP53_ENST00000455263.2_Missense_Mutation_p.C176G|TP53_ENST00000445888.2_Missense_Mutation_p.C176G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.C176G|TP53_ENST00000413465.2_Missense_Mutation_p.C176G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGTGGGGGCAGCGCCTCACA	0.647		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)			False	0	False	17:7578404	0	C	7578404	A	C	7578404	3	2	132	1	0	0	0	0	1	0	0	0	16464	188	7	4	772	4	TP53	17	7578404	Missense_Mutation	SNP	A	TCGA-US-A774-01A-21D-A32N-08		7578404	73616806	88	33015											
NCOR1	9611	broad.mit.edu	37	chr17	15935762	15935762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtactgctgagcatccGcatagtcagagggttataag	13	7	1	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:15935762G>A	ENST00000268712.3	-	46	7428	c.7171C>T	c.(7171-7173)Cgg>Tgg	p.R2391W	NCOR1_ENST00000395857.3_Missense_Mutation_p.R975W|NCOR1_ENST00000395851.1_Missense_Mutation_p.R2288W	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2391	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.R2391W(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGAGCATCCGCATAGTCAGA	0.468													False	0	False	17:15935762	0	A	15935762	G	A	15935762	3	1	132	1	0	0	0	0	1	0	0	0	10303	1086	38	1	155	1	NCOR1	17	15935762	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	8357358	15935762	65259448	89	33016											
UBB	7314	broad.mit.edu	37	chr17	16285638	16285638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgactacaacatccagaaGgagtcgaccctgcacctggt	9	13	1	2	rs144617200		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:16285638G>A	ENST00000302182.3	+	2	809	c.417G>A	c.(415-417)aaG>aaA	p.K139K	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.K139K|UBB_ENST00000395839.1_Silent_p.K139K|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	139	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ACATCCAGAAGGAGTCGACCC	0.567													False	0	False	17:16285638	0	A	16285638	G	A	16285638	2	1	132	1	0	0	0	0	0	0	0	1	16925	991	35	2		2	UBB	17	16285638	Silent	SNP	G	TCGA-US-A774-01A-21D-A32N-08	349876	16285638	64909572	90	33017											
THRA	7067	broad.mit.edu	37	chr17	38245543	38245543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcactacgtcaaccaccGcaaacacaacattccgcact	5	17	1	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:38245543G>A	ENST00000450525.2	+	9	1558	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	THRA_ENST00000546243.1_Missense_Mutation_p.R356H|THRA_ENST00000394121.4_Missense_Mutation_p.R356H|THRA_ENST00000264637.4_Missense_Mutation_p.R356H|THRA_ENST00000584985.1_Missense_Mutation_p.R356H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	356	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCAACCACCGCAAACACAAC	0.597													False	0	False	17:38245543	0	A	38245543	G	A	38245543	3	1	132	1	0	0	0	0	1	0	0	0	15955	1087	38	1	1097	1	THRA	17	38245543	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	21959905	38245543	42949667	91	33018											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240611	39240745	+	In_Frame_Del	DEL	GCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACCTGCTGTCGCCCCACCTGCTGTGAGACGACCTGCTGCCACCCTAGGTGCTGCATCTCCAGCTGCTGCCGCCCCAGCTGCTGTATGTCCAGCTGCTGCAA	GCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACCTGCTGTCGCCCCACCTGCTGTGAGACGACCTGCTGCCACCCTAGGTGCTGCATCTCCAGCTGCTGCCGCCCCAGCTGCTGTATGTCCAGCTGCTGCAA	-													tgtgtgtccagctgctgcagGccccagtgctgccagtctgt					rs139671425	by1000genomes	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	GCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACCTGCTGTCGCCCCACCTGCTGTGAGACGACCTGCTGCCACCCTAGGTGCTGCATCTCCAGCTGCTGCCGCCCCAGCTGCTGTATGTCCAGCTGCTGCAA	GCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACCTGCTGTCGCCCCACCTGCTGTGAGACGACCTGCTGCCACCCTAGGTGCTGCATCTCCAGCTGCTGCCGCCCCAGCTGCTGTATGTCCAGCTGCTGCAA	-	-	GCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACCTGCTGTCGCCCCACCTGCTGTGAGACGACCTGCTGCCACCCTAGGTGCTGCATCTCCAGCTGCTGCCGCCCCAGCTGCTGTATGTCCAGCTGCTGCAA	GCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACCTGCTGTCGCCCCACCTGCTGTGAGACGACCTGCTGCCACCCTAGGTGCTGCATCTCCAGCTGCTGCCGCCCCAGCTGCTGTATGTCCAGCTGCTGCAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:39240611_39240745delGCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACCTGCTGTCGCCCCACCTGCTGTGAGACGACCTGCTGCCACCCTAGGTGCTGCATCTCCAGCTGCTGCCGCCCCAGCTGCTGTATGTCCAGCTGCTGCAA	ENST00000391417.4	+	1	153_287	c.153_287delGCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACCTGCTGTCGCCCCACCTGCTGTGAGACGACCTGCTGCCACCCTAGGTGCTGCATCTCCAGCTGCTGCCGCCCCAGCTGCTGTATGTCCAGCTGCTGCAA	c.(151-288)aggccccagtgctgccagtctgtgtgctgccaacccacctgctgtcgccccacctgctgtgagacgacctgctgccaccctaggtgctgcatctccagctgctgccgccccagctgctgtatgtccagctgctgcaag>agg	p.PQCCQSVCCQPTCCRPTCCETTCCHPRCCISSCCRPSCCMSSCCK52del		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)|p.C54Y(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GCTGCTGCAGGCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACCTGCTGTCGCCCCACCTGCTGTGAGACGACctgctgccaccctaggtgctgcatctccagctgctgccgccccagctgctgtatgtccagctgctgcaagccccagtgc	0.669													False	1	False	17:39240611	0	-	39240745	GCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACCTGCTGTCGCCCCACCTGCTGTGAGACGACCTGCTGCCACCCTAGGTGCTGCATCTCCAGCTGCTGCCGCCCCAGCTGCTGTATGTCCAGCTGCTGCAA	-	39240611	7	5	132	1	0	1	0	1	0	0	0	0	8606	1194	42	0	155	0	KRTAP4-7	17	39240611	In_Frame_Del	DEL	GCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACCTGCTGTCGCCCCACCTGCTGTGAGACGACCTGCTGCCACCCTAGGTGCTGCATCTCCAGCTGCTGCCGCCCCAGCTGCTGTATGTCCAGCTGCTGCAA	TCGA-US-A774-01A-21D-A32N-08	995068	39240611	41954599	92	33019											
HEXIM1	10614	broad.mit.edu	37	chr17	43227508	43227508	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagcaagcggctgggtggCgacgacgcgcgtgtgcggga	21	9	0	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:43227508C>T	ENST00000332499.2	+	1	2825	c.951C>T	c.(949-951)ggC>ggT	p.G317G		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	317	Required for inhibition of ESR1-dependent transcription.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCTGGGTGGCGACGACGCGC	0.662													False	0	False	17:43227508	0	T	43227508	C	T	43227508	2	4	132	1	0	0	0	0	0	0	0	1	7123	755	27	1		1	HEXIM1	17	43227508	Silent	SNP	C	TCGA-US-A774-01A-21D-A32N-08	3986897	43227508	37967702	93	33020											
TLK2	11011	broad.mit.edu	37	chr17	60689888	60689888	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggagctgctattgcaTcaacctctggggcgtccaat	11	12	2	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:60689888T>G	ENST00000582809.1	+	23	2471	c.1768T>G	c.(1768-1770)Tca>Gca	p.S590A	TLK2_ENST00000343388.7_Missense_Mutation_p.S707A|TLK2_ENST00000542523.1_Missense_Mutation_p.S707A|TLK2_ENST00000326270.9_Missense_Mutation_p.S761A|TLK2_ENST00000346027.5_Missense_Mutation_p.S739A			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	761	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TGCTATTGCATCAACCTCTGG	0.507													False	0	False	17:60689888	0	G	60689888	T	G	60689888	3	3	132	1	0	0	0	0	1	0	0	0	16026	1435	50	4	2297	4	TLK2	17	60689888	Missense_Mutation	SNP	T	TCGA-US-A774-01A-21D-A32N-08	17462380	60689888	20505322	94	33021											
CACNG1	786	broad.mit.edu	37	chr17	65051326	65051326	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagagggactatctgctgCgacccgcgtccatgttctat	11	11	2	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:65051326C>T	ENST00000226021.3	+	3	483	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	138					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	CTATCTGCTGCGACCCGCGTC	0.637													False	0	False	17:65051326	0	T	65051326	C	T	65051326	4	4	132	1	0	0	0	0	0	1	0	0	2576	760	27	1	422	1	CACNG1	17	65051326	Nonsense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	4361438	65051326	16143884	95	33022											
ZACN	353174	broad.mit.edu	37	chr17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctccgggccattgagcGcataggctacaaggtgacat	12	13	0	2			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622													False	0	False	17:74077738	0	A	74077738	G	A	74077738	3	1	132	1	0	0	0	0	1	0	0	0	17594	1087	38	1	808	1	ZACN	17	74077738	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	9026412	74077738	7117472	96	33023											
BAIAP2	10458	broad.mit.edu	37	chr17	79078379	79078379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcgcaatggccgtatgCgggtgaaggccatcttctcc	14	11	2	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:79078379C>T	ENST00000321300.6	+	10	1225	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	BAIAP2_ENST00000321280.7_Missense_Mutation_p.R378W|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R378W|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R378W|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R411W|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R241W|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R378W|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R300W	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	378	SH3.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGCCGTATGCGGGTGAAGGC	0.642													False	0	True	17:79078379	0	T	79078379	C	T	79078379	3	4	132	1	0	0	0	0	1	0	0	0	1305	759	27	1	1170	1	BAIAP2	17	79078379	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	5000641	79078379	2116831	97	33024											
CFD	1675	broad.mit.edu	37	chr19	861750	861750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccccctgccctggcagCgcgtggaccgcgacgtggca	15	17	0	0	rs139666945	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:861750C>T	ENST00000327726.6	+	4	646	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	CFD_ENST00000592860.1_Missense_Mutation_p.R144C	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	137	Peptidase S1.				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTGGCAGCGCGTGGACCG	0.731													False	0	False	19:861750	0	T	861750	C	T	861750	3	4	132	1	0	0	0	0	1	0	0	0	3304	768	27	1	423	1	CFD	19	861750	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08		861750	58267233	98	33025											
EEF2	1938	broad.mit.edu	37	chr19	3982349	3982349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttggccacatacatctcgGcaaactgcttcagggtgaag	10	11	2	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:3982349G>A	ENST00000309311.6	-	5	774	c.686C>T	c.(685-687)gCc>gTc	p.A229V		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	229						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ATACATCTCGGCAAACTGCTT	0.602													False	0	False	19:3982349	0	A	3982349	G	A	3982349	3	1	132	1	0	0	0	0	1	0	0	0	4959	1203	42	2	1934	2	EEF2	19	3982349	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	3120599	3982349	55146634	99	33026											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													False	0	True	19:9090831	0	G	9090831	A	G	9090831	2	3	132	1	0	0	0	0	0	0	0	1	10040	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-US-A774-01A-21D-A32N-08	5108482	9090831	50038152	100	33027											
CHERP	10523	broad.mit.edu	37	chr19	16634068	16634068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgccaggatgaggcatgCggtggccagggtggtggtga	20	6	0	3			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:16634068C>T	ENST00000546361.2	-	11	1926	c.1775G>A	c.(1774-1776)cGc>cAc	p.R592H	CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R603H	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	592	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ATGAGGCATGCGGTGGCCAGG	0.652													False	0	False	19:16634068	0	T	16634068	C	T	16634068	3	4	132	1	0	0	0	0	1	0	0	0	3359	768	27	1	1003	1	CHERP	19	16634068	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	7543237	16634068	42494915	101	33028											
RYR1	6261	broad.mit.edu	37	chr19	38948830	38948830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtgggctgggccctcaccGagggctacaccccctaccct	13	17	1	0	rs144845360		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:38948830G>A	ENST00000355481.4	+	18	2196	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	RYR1_ENST00000360985.3_Missense_Mutation_p.E689K|RYR1_ENST00000359596.3_Missense_Mutation_p.E689K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	689	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCCCTCACCGAGGGCTACAC	0.627													False	0	False	19:38948830	0	A	38948830	G	A	38948830	3	1	132	1	0	0	0	0	1	0	0	0	13847	1059	37	1	2135	1	RYR1	19	38948830	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	22314762	38948830	20180153	102	33029											
PSG6	5675	broad.mit.edu	37	chr19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccggtgggttagagtccGcaaagcaggacaagtcgagg	16	9	0	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:43411250G>A	ENST00000187910.2	-	5	1129	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448													False	0	False	19:43411250	0	A	43411250	G	A	43411250	3	1	132	1	0	0	0	0	1	0	0	0	12735	1087	38	1	290	1	PSG6	19	43411250	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	4462420	43411250	15717733	103	33030											
PRKCG	5582	broad.mit.edu	37	chr19	54392899	54392899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgcccccaggacccccGgaacaaacacaagttccgcc	7	19	1	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:54392899G>A	ENST00000263431.3	+	4	575	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.R98Q|PRKCG_ENST00000536044.1_Missense_Mutation_p.R98Q	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	98					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CAGGACCCCCGGAACAAACAC	0.602													False	0	True	19:54392899	0	A	54392899	G	A	54392899	3	1	132	1	0	0	0	0	1	0	0	0	12588	1116	39	1	307	1	PRKCG	19	54392899	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	10981649	54392899	4736084	104	33031											
BAGE2	85319	broad.mit.edu	37	chr21	11097591	11097591	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctccagctcaccacagggGactcctccttcatcagcctg	7	18	3	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr21:11097591G>A	ENST00000470054.1	-	0	278									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccacaggggactcctcctt	0.542													False	0	True	21:11097591	0	A	11097591	G	A	11097591	1	1	132	0	1	0	0	0	0	0	0	0	1296	1174	41	2		2	BAGE2	21	11097591	RNA	SNP	G	TCGA-US-A774-01A-21D-A32N-08		11097591	37032304	105	33032											
KRTAP10-5	386680	broad.mit.edu	37	chr21	45999888	45999888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagccccagagcagacggGcacacagcagatgggtttga	15	10	0	4			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr21:45999888G>A	ENST00000400372.1	-	1	593	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	190	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GAGCAGACGGGCACACAGCAG	0.622													False	0	True	21:45999888	0	A	45999888	G	A	45999888	3	1	132	1	0	0	0	0	1	0	0	0	8562	1203	42	2	251	2	KRTAP10-5	21	45999888	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	34902297	45999888	2130007	106	33033											
MYO18B	84700	broad.mit.edu	37	chr22	26422752	26422752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaggggtccacgctggGcctagaggactggcccactc	15	14	0	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:26422752G>A	ENST00000335473.7	+	43	7062	c.6812G>A	c.(6811-6813)gGc>gAc	p.G2271D	MYO18B_ENST00000536101.1_Missense_Mutation_p.G2271D|MYO18B_ENST00000407587.2_Missense_Mutation_p.G2272D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2271						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCACGCTGGGCCTAGAGGAC	0.647													False	0	True	22:26422752	0	A	26422752	G	A	26422752	3	1	132	1	0	0	0	0	1	0	0	0	10133	1203	42	2	6978	2	MYO18B	22	26422752	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08		26422752	24881814	107	33034											
SEZ6L	23544	broad.mit.edu	37	chr22	26693012	26693012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttccggaccttccaggaCgacggccttgggaccttcca	10	15	0	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:26693012C>T	ENST00000529632.2	+	4	1324	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	SEZ6L_ENST00000404234.3_Silent_p.D376D|SEZ6L_ENST00000248933.6_Silent_p.D376D|SEZ6L_ENST00000402979.1_Silent_p.D149D|SEZ6L_ENST00000343706.4_Silent_p.D376D|SEZ6L_ENST00000360929.3_Silent_p.D376D|SEZ6L_ENST00000403121.1_Silent_p.D149D	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	376	CUB 1.					endoplasmic reticulum membrane|integral to membrane		p.D376D(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCTTCCAGGACGACGGCCTTG	0.577													False	0	False	22:26693012	0	T	26693012	C	T	26693012	2	4	132	1	0	0	0	0	0	0	0	1	14224	535	19	1		1	SEZ6L	22	26693012	Silent	SNP	C	TCGA-US-A774-01A-21D-A32N-08	270260	26693012	24611554	108	33035											
SMTN	6525	broad.mit.edu	37	chr22	31487093	31487093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctaagtcccctgacccccGcaaggctcctgggcccctcc	8	22	0	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:31487093G>A	ENST00000333137.7	+	10	1302	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	SMTN_ENST00000347557.2_Missense_Mutation_p.A362T|SMTN_ENST00000358743.1_Missense_Mutation_p.A362T	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	362					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCTGACCCCCGCAAGGCTCCT	0.647													False	0	True	22:31487093	0	A	31487093	G	A	31487093	3	1	132	1	0	0	0	0	1	0	0	0	14894	1087	38	1	1118	1	SMTN	22	31487093	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	4794081	31487093	19817473	109	33036											
KCNJ4	3761	broad.mit.edu	37	chr22	38824115	38824115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggggcacgtgggcctggCcgttgcggctgtgtccgtgc	19	13	0	0			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:38824115C>T	ENST00000303592.3	-	2	281	c.23G>A	c.(22-24)gGc>gAc	p.G8D		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	8					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GTGGGCCTGGCCGTTGCGGCT	0.657													False	0	False	22:38824115	0	T	38824115	C	T	38824115	3	4	132	1	0	0	0	0	1	0	0	0	8103	739	26	2	1318	2	KCNJ4	22	38824115	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	7337022	38824115	12480451	110	33037											
GPRASP2	114928	broad.mit.edu	37	chrX	101972217	101972217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgatttcagtcttgagcCgcttatttctgcatttcgtg	9	8	3	3			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:101972217C>T	ENST00000543253.1	+	5	3339	c.2420C>T	c.(2419-2421)cCg>cTg	p.P807L	GPRASP2_ENST00000535209.1_Missense_Mutation_p.P807L|GPRASP2_ENST00000332262.5_Missense_Mutation_p.P807L	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGTCTTGAGCCGCTTATTTCT	0.318													False	0	False	X:101972217	0	T	101972217	C	T	101972217	3	4	132	1	0	0	0	0	1	0	0	0	6770	652	23	1	2422	1	GPRASP2	23	101972217	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08		101972217	53298343	111	33038											
FAM127B	26071	broad.mit.edu	37	chrX	134186027	134186027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgaactccgggagtcggtCggtatctccgtcaaacgtct	12	11	3	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:134186027C>T	ENST00000370775.2	-	1	178	c.112G>A	c.(112-114)Gac>Aac	p.D38N	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	38										breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					GGGAGTCGGTCGGTATCTCCG	0.637													False	0	True	X:134186027	0	T	134186027	C	T	134186027	3	4	132	1	0	0	0	0	1	0	0	0	5468	884	31	1	297	1	FAM127B	23	134186027	Missense_Mutation	SNP	C	TCGA-US-A774-01A-21D-A32N-08	32213810	134186027	21084533	112	33039											
L1CAM	3897	broad.mit.edu	37	chrX	153134383	153134383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtacgtctgattgtccGcagtcaggatcttggctggc	12	11	3	1			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGATTGTCCGCAGTCAGGAT	0.617													False	0	False	X:153134383	0	A	153134383	G	A	153134383	3	1	132	1	0	0	0	0	1	0	0	0	8639	1087	38	1	2553	1	L1CAM	23	153134383	Missense_Mutation	SNP	G	TCGA-US-A774-01A-21D-A32N-08	18948356	153134383	2136177	113	33040											
TAS1R1	0	broad.mit.edu	37	chr1	6631015	6631015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacctcttccaggctatgCggcttggggttgaggagata	13	10	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:6631015C>T	ENST00000333172.6	+	2	431	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	TAS1R1_ENST00000351136.3_Missense_Mutation_p.R80W|TAS1R1_ENST00000328191.4_Missense_Mutation_p.R80W	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	80					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGGCTATGCGGCTTGGGGT	0.532													False	0	False	1:6631015	0	T	6631015	C	T	6631015	3	4	133	1	0	0	0	0	1	0	0	0	15644	759	27	1	244	1	TAS1R1	1	6631015	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		6631015	242619606	1	33041											
H6PD	9563	broad.mit.edu	37	chr1	9323958	9323958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccatatcttccatggccGgaagaatttcttcatcacca	5	13	4	1	rs113495544	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:9323958G>A	ENST00000377403.2	+	5	1708	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	H6PD_ENST00000602477.1_Missense_Mutation_p.R480Q	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	469	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TTCCATGGCCGGAAGAATTTC	0.597													False	0	False	1:9323958	0	A	9323958	G	A	9323958	3	1	133	1	0	0	0	0	1	0	0	0	6983	1116	39	1	1420	1	H6PD	1	9323958	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2692943	9323958	239926663	2	33042											
CLCN6	1185	broad.mit.edu	37	chr1	11883815	11883815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatgctatctgaatggcGtaaaggtgccaggaatcgtc	11	8	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:11883815G>A	ENST00000346436.6	+	7	557	c.505G>A	c.(505-507)Gta>Ata	p.V169I	CLCN6_ENST00000312413.6_Missense_Mutation_p.V169I|CLCN6_ENST00000376496.3_Missense_Mutation_p.V169I|CLCN6_ENST00000376487.3_Missense_Mutation_p.V147I|CLCN6_ENST00000376492.3_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	169					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGAATGGCGTAAAGGTGCC	0.552													False	0	False	1:11883815	0	A	11883815	G	A	11883815	3	1	133	1	0	0	0	0	1	0	0	0	3490	1145	40	1	531	1	CLCN6	1	11883815	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2559857	11883815	237366806	3	33043											
EPHB2	2048	broad.mit.edu	37	chr1	23110922	23110922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgatgagaacatgaacaCgatccgcacgtaccaggtgt	10	11	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:23110922C>T	ENST00000400191.3	+	3	182	c.164C>T	c.(163-165)aCg>aTg	p.T55M	EPHB2_ENST00000374632.3_Missense_Mutation_p.T55M|EPHB2_ENST00000374630.3_Missense_Mutation_p.T55M|EPHB2_ENST00000544305.1_Missense_Mutation_p.T55M|EPHB2_ENST00000374627.1_Missense_Mutation_p.T49M	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	55					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AACATGAACACGATCCGCACG	0.572													False	0	False	1:23110922	0	T	23110922	C	T	23110922	3	4	133	1	0	0	0	0	1	0	0	0	5207	536	19	1	174	1	EPHB2	1	23110922	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	11227107	23110922	226139699	4	33044											
CSF3R	1441	broad.mit.edu	37	chr1	36933510	36933510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatgtgatacagactggCgggctccaggccatggagga	17	8	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:36933510C>T	ENST00000373103.1	-	14	2324	c.1777G>A	c.(1777-1779)Gcc>Acc	p.A593T	CSF3R_ENST00000373106.1_Missense_Mutation_p.A593T|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Missense_Mutation_p.A593T|CSF3R_ENST00000440588.2_Missense_Mutation_p.A593T|CSF3R_ENST00000361632.4_Missense_Mutation_p.A593T|CSF3R_ENST00000373104.1_Missense_Mutation_p.A593T|CSF3R_ENST00000338937.5_Missense_Mutation_p.A593T|CSF3R_ENST00000418048.2_Missense_Mutation_p.A593T	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	593	Fibronectin type-III 5.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TACAGACTGGCGGGCTCCAGG	0.617													False	0	True	1:36933510	0	T	36933510	C	T	36933510	3	4	133	1	0	0	0	0	1	0	0	0	3962	768	27	1	939	1	CSF3R	1	36933510	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	13822588	36933510	212317111	5	33045											
PTCH2	8643	broad.mit.edu	37	chr1	45297975	45297975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcctcctcccccagcttctCcttggtgtaatgcagctcct	7	17	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:45297975C>T	ENST00000447098.2	-	3	315	c.304G>A	c.(304-306)Gag>Aag	p.E102K	PTCH2_ENST00000372192.3_Missense_Mutation_p.E102K	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	102					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCAGCTTCTCCTTGGTGTAA	0.602									Basal Cell Nevus syndrome				False	0	False	1:45297975	0	T	45297975	C	T	45297975	3	4	133	1	0	0	0	0	1	0	0	0	12807	864	30	2	3407	2	PTCH2	1	45297975	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	8364465	45297975	203952646	6	33046											
CYP4B1	1580	broad.mit.edu	37	chr1	47284367	47284367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagccatgtgcttgctcCgctttgagttctctctggac	9	13	3	1	rs138678209	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:47284367C>T	ENST00000271153.4	+	12	1453	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	CYP4B1_ENST00000371923.4_Missense_Mutation_p.R474C|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R311C|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R459C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	473					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GTGCTTGCTCCGCTTTGAGTT	0.557													False	0	False	1:47284367	0	T	47284367	C	T	47284367	3	4	133	1	0	0	0	0	1	0	0	0	4210	652	23	1	1466	1	CYP4B1	1	47284367	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1986392	47284367	201966254	7	33047											
PARS2	25973	broad.mit.edu	37	chr1	55223794	55223794	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttcaatggcagcagccaaGatccgtgtcacacccaagcc	8	15	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:55223794G>A	ENST00000371279.3	-	2	1123	c.1041C>T	c.(1039-1041)atC>atT	p.I347I		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	347					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CAGCAGCCAAGATCCGTGTCA	0.542													False	0	False	1:55223794	0	A	55223794	G	A	55223794	2	1	133	1	0	0	0	0	0	0	0	1	11535	932	33	2		2	PARS2	1	55223794	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	7939427	55223794	194026827	8	33048											
C8A	731	broad.mit.edu	37	chr1	57333282	57333282	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatcttccctttctttagGagagtaagacgggcagctac	11	9	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:57333282G>A	ENST00000361249.3	+	2	174	c.78G>A	c.(76-78)caG>caA	p.Q26Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	26					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTTTCTTTAGGAGAGTAAGAC	0.458													False	0	False	1:57333282	0	A	57333282	G	A	57333282	5	1	133	1	0	0	0	0	0	0	1	0	2435	1188	41	2	84	2	C8A	1	57333282	Splice_Site	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2109488	57333282	191917339	9	33049											
C8A	731	broad.mit.edu	37	chr1	57383364	57383364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcctcgtgtccagggcGgaaagtacagacgcaggctt	16	10	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:57383364G>A	ENST00000361249.3	+	11	1826	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	577	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGTCCAGGGCGGAAAGTACAG	0.557													False	0	False	1:57383364	0	A	57383364	G	A	57383364	3	1	133	1	0	0	0	0	1	0	0	0	2435	1116	39	1	1772	1	C8A	1	57383364	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	50082	57383364	191867257	10	33050											
LRRC8D	55144	broad.mit.edu	37	chr1	90399492	90399492	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcaggccaaagccctgtttGagaaagtgaggaagttccgt	13	8	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:90399492G>A	ENST00000337338.5	+	3	1272	c.865G>A	c.(865-867)Gag>Aag	p.E289K	LRRC8D_ENST00000394593.3_Missense_Mutation_p.E289K	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	289						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGCCCTGTTTGAGAAAGTGAG	0.408													False	0	True	1:90399492	0	A	90399492	G	A	90399492	3	1	133	1	0	0	0	0	1	0	0	0	9086	1291	45	2	867	2	LRRC8D	1	90399492	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	33016128	90399492	158851129	11	33051											
CCDC18	343099	broad.mit.edu	37	chr1	93672863	93672863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattaaaggtccgtgttgcaGcacagaatgagcgactagat	11	7	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:93672863G>A	ENST00000343253.7	+	9	1619	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	CCDC18_ENST00000401026.3_Missense_Mutation_p.A373T|CCDC18_ENST00000338949.4_Missense_Mutation_p.A172T|CCDC18_ENST00000557479.1_Missense_Mutation_p.A491T|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	373										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CCGTGTTGCAGCACAGAATGA	0.343													False	0	False	1:93672863	0	A	93672863	G	A	93672863	3	1	133	1	0	0	0	0	1	0	0	0	2815	971	34	2	1505	2	CCDC18	1	93672863	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3273371	93672863	155577758	12	33052											
CASQ2	845	broad.mit.edu	37	chr1	116247905	116247905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcaggatctccaggaattCgtagccatctgaaacaggat	9	9	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:116247905C>T	ENST00000261448.5	-	9	1086	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	CASQ2_ENST00000456138.2_Missense_Mutation_p.E212K	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	283					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCCAGGAATTCGTAGCCATCT	0.502													False	0	False	1:116247905	0	T	116247905	C	T	116247905	3	4	133	1	0	0	0	0	1	0	0	0	2701	893	31	1	364	1	CASQ2	1	116247905	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	22575042	116247905	133002716	13	33053											
FLG2	388698	broad.mit.edu	37	chr1	152326576	152326576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtctcccatgaactgtggatCctgactctacttgttgagat	9	10	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:152326576C>A	ENST00000388718.5	-	3	3758	c.3686G>T	c.(3685-3687)gGa>gTa	p.G1229V	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1229	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACTGTGGATCCTGACTCTAC	0.483													False	0	False	1:152326576	0	A	152326576	C	A	152326576	3	1	133	1	0	0	0	0	1	0	0	0	5963	855	30	3	3493	3	FLG2	1	152326576	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	36078671	152326576	96924045	14	33054											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	133	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-US-A776-01A-13D-A33T-08	344939	152671515	96579106	15	33055											
NUP210L	91181	broad.mit.edu	37	chr1	154072575	154072575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccaagagatttagctgCgatatgtgtactggaacaat	11	6	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	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	622						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	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	0.443													False	0	False	1:154072575	0	T	154072575	C	T	154072575	3	4	133	1	0	0	0	0	1	0	0	0	10829	768	27	1	3910	1	NUP210L	1	154072575	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1401060	154072575	95178046	16	33056											
SPTA1	6708	broad.mit.edu	37	chr1	158618342	158618342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttcaaagccctcatgcCgtcgctgaagagcctgaaca	8	15	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:158618342C>T	ENST00000368147.4	-	26	3851	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCCTCATGCCGTCGCTGAAG	0.502													False	0	False	1:158618342	0	T	158618342	C	T	158618342	3	4	133	1	0	0	0	0	1	0	0	0	15198	652	23	1	3696	1	SPTA1	1	158618342	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	4545767	158618342	90632279	17	33057											
RABGAP1L	9910	broad.mit.edu	37	chr1	174606564	174606564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattcatcgtacatttcccGcacatgattactttaaagat	4	9	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:174606564G>A	ENST00000251507.4	+	14	1936	c.1762G>A	c.(1762-1764)Gca>Aca	p.A588T		NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	588	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	p.A588T(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TACATTTCCCGCACATGATTA	0.358													False	0	True	1:174606564	0	A	174606564	G	A	174606564	3	1	133	1	0	0	0	0	1	0	0	0	13044	1087	38	1	1812	1	RABGAP1L	1	174606564	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	15988222	174606564	74644057	18	33058											
PAPPA2	60676	broad.mit.edu	37	chr1	176564512	176564512	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaactgtgagcccagcaagaTtggcaatgaccattgtgacc	11	10	0	4			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:176564512T>A	ENST00000367662.3	+	3	2936	c.1772T>A	c.(1771-1773)aTt>aAt	p.I591N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.I591N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	591	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAGCAAGATTGGCAATGAC	0.602													False	0	False	1:176564512	0	A	176564512	T	A	176564512	3	1	133	1	0	0	0	0	1	0	0	0	11501	1493	52	5	1778	5	PAPPA2	1	176564512	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	1957948	176564512	72686109	19	33059											
CYB5R1	51706	broad.mit.edu	37	chr1	202931804	202931804	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccggatcatgtcggcagtcaCaaagcccttgctgtaggccc	11	14	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:202931804C>G	ENST00000367249.4	-	9	843	c.769G>C	c.(769-771)Gtg>Ctg	p.V257L	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	257					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			TCGGCAGTCACAAAGCCCTTG	0.572													False	0	True	1:202931804	0	G	202931804	C	G	202931804	3	3	133	1	0	0	0	0	1	0	0	0	4151	478	17	5	152	5	CYB5R1	1	202931804	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	26367292	202931804	46318817	20	33060											
TGFB2	7042	broad.mit.edu	37	chr1	218609475	218609475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagcgtgctttggatgcGgcctattgctttaggtaaag	13	6	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:218609475G>A	ENST00000366929.4	+	6	1469	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Silent_p.A306A	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	306					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CTTTGGATGCGGCCTATTGCT	0.438													False	0	False	1:218609475	0	A	218609475	G	A	218609475	2	1	133	1	0	0	0	0	0	0	0	1	15900	1103	39	1		1	TGFB2	1	218609475	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	15677671	218609475	30641146	21	33061											
CNIH3	149111	broad.mit.edu	37	chr1	224872534	224872534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcgagcgcatctgcttcCttctgcgaaaggtcagtgtg	11	11	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:224872534C>T	ENST00000272133.3	+	3	1069	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	63					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CATCTGCTTCCTTCTGCGAAA	0.532													False	0	True	1:224872534	0	T	224872534	C	T	224872534	3	4	133	1	0	0	0	0	1	0	0	0	3627	681	24	2	197	2	CNIH3	1	224872534	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	6263059	224872534	24378087	22	33062											
OR2T4	127074	broad.mit.edu	37	chr1	248525478	248525478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccatcaccatgaccttccCcttccgtggatcccgggaga	8	17	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:248525478C>T	ENST00000366475.1	+	1	596	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGACCTTCCCCTTCCGTGGA	0.498													False	0	True	1:248525478	0	T	248525478	C	T	248525478	3	4	133	1	0	0	0	0	1	0	0	0	11095	623	22	2	598	2	OR2T4	1	248525478	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	23652944	248525478	725143	23	33063											
KCNS3	3790	broad.mit.edu	37	chr2	18112885	18112885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccatcgtggccatgtgcGttcacagcatgtcggagttc	11	13	1	0	rs144701569		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:18112885G>A	ENST00000403915.1	+	3	1061	c.610G>A	c.(610-612)Gtt>Att	p.V204I	KCNS3_ENST00000304101.4_Missense_Mutation_p.V204I|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	204					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCCATGTGCGTTCACAGCAT	0.552													False	0	False	2:18112885	0	A	18112885	G	A	18112885	3	1	133	1	0	0	0	0	1	0	0	0	8140	1145	40	1	612	1	KCNS3	2	18112885	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		18112885	225086488	24	33064											
PROM2	150696	broad.mit.edu	37	chr2	95944852	95944852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggtggaggagagcagcCgcccctacctgcaggaggtg	18	10	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:95944852C>T	ENST00000317620.9	+	10	1367	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	PROM2_ENST00000403131.2_Missense_Mutation_p.R412C|PROM2_ENST00000317668.4_Missense_Mutation_p.R412C|PROM2_ENST00000542147.1_Missense_Mutation_p.R412C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	412						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGAGAGCAGCCGCCCCTACCT	0.687													False	0	False	2:95944852	0	T	95944852	C	T	95944852	3	4	133	1	0	0	0	0	1	0	0	0	12632	652	23	1	1272	1	PROM2	2	95944852	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	77831967	95944852	147254521	25	33065											
KCNIP3	30818	broad.mit.edu	37	chr2	96049770	96049770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagaacatcatgagctcCatgcagctgtttgagaatgt	11	7	1	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:96049770C>T	ENST00000295225.5	+	9	879	c.744C>T	c.(742-744)tcC>tcT	p.S248S	KCNIP3_ENST00000468529.1_Silent_p.S222S|KCNIP3_ENST00000360990.3_Silent_p.S226S|KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	248	Interaction with KCND2 (By similarity).				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TCATGAGCTCCATGCAGCTGT	0.582													False	0	False	2:96049770	0	T	96049770	C	T	96049770	2	4	133	1	0	0	0	0	0	0	0	1	8091	581	21	2		2	KCNIP3	2	96049770	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	104918	96049770	147149603	26	33066											
FHL2	2274	broad.mit.edu	37	chr2	106002866	106002866	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactcctcgcaggtgttggcGaacagggtctcaaagcacac	11	13	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:106002866G>A	ENST00000409177.1	-	2	577	c.456C>T	c.(454-456)ttC>ttT	p.F152F	FHL2_ENST00000393353.3_Silent_p.F36F|FHL2_ENST00000344213.4_Silent_p.F146F|FHL2_ENST00000409807.1_Silent_p.F36F|FHL2_ENST00000322142.8_Silent_p.F36F|FHL2_ENST00000408995.1_Silent_p.F36F|FHL2_ENST00000393352.3_Silent_p.F36F|FHL2_ENST00000336660.5_Silent_p.F36F|FHL2_ENST00000358129.4_Silent_p.F36F|FHL2_ENST00000607522.1_Silent_p.F36F			Q14192	FHL2_HUMAN	four and a half LIM domains 2	36	LIM zinc-binding 2.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						AGGTGTTGGCGAACAGGGTCT	0.612													False	0	False	2:106002866	0	A	106002866	G	A	106002866	2	1	133	1	0	0	0	0	0	0	0	1	5919	1049	37	1		1	FHL2	2	106002866	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	9953096	106002866	137196507	27	33067											
MARCO	8685	broad.mit.edu	37	chr2	119739962	119739962	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtccaggagccacaggcCtgaaaggaagcaaaggggac	16	9	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:119739962C>A	ENST00000541757.1	+	13	1185	c.805C>A	c.(805-807)Ctg>Atg	p.L269M	MARCO_ENST00000327097.4_Missense_Mutation_p.L347M			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	347	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGCCACAGGCCTGAAAGGAAG	0.562													False	0	False	2:119739962	0	A	119739962	C	A	119739962	3	1	133	1	0	0	0	0	1	0	0	0	9378	680	24	3	1085	3	MARCO	2	119739962	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	13737096	119739962	123459411	28	33068											
DARS	1615	broad.mit.edu	37	chr2	136680484	136680484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattggctcctccttcactGgcagctgaaaggtaaacatt	8	11	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:136680484G>A	ENST00000264161.4	-	9	896	c.681C>T	c.(679-681)gcC>gcT	p.A227A	DARS_ENST00000537273.1_Silent_p.A127A	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	227					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CTCCTTCACTGGCAGCTGAAA	0.328													False	0	False	2:136680484	0	A	136680484	G	A	136680484	2	1	133	1	0	0	0	0	0	0	0	1	4266	1335	47	2		2	DARS	2	136680484	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	16940522	136680484	106518889	29	33069											
EVX2	344191	broad.mit.edu	37	chr2	176948170	176948170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtcgctgctcatgtcgGcctcagcggccgcctctgaa	11	17	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:176948170G>A	ENST00000308618.4	-	1	471	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	112						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCTCATGTCGGCCTCAGCGGC	0.662													False	0	False	2:176948170	0	A	176948170	G	A	176948170	3	1	133	1	0	0	0	0	1	0	0	0	5327	1203	42	2	1105	2	EVX2	2	176948170	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	40267686	176948170	66251203	30	33070											
TTN	7273	broad.mit.edu	37	chr2	179393379	179393387	+	In_Frame_Del	DEL	TCTGAGAGT	TCTGAGAGT	-													gtgagatgaaggctggagcaTctgagagttctttgctcagt							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	TCTGAGAGT	TCTGAGAGT	-	-	TCTGAGAGT	TCTGAGAGT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:179393379_179393387delTCTGAGAGT	ENST00000589042.1	-	360	107315_107323	c.107091_107099delACTCTCAGA	c.(107089-107100)gaactctcagat>gat	p.ELS35697del	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.ELS33129del|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_In_Frame_Del_p.ELS26632del|TTN_ENST00000591111.1_In_Frame_Del_p.ELS34056del|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.ELS26757del|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.ELS26824del|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34056							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTGGAGCATCTGAGAGTTCTTTGCTCA	0.431													False	1	False	2:179393379	0	-	179393387	TCTGAGAGT	-	179393379	7	5	133	1	0	1	0	1	0	0	0	0	16819	1435	50	0	892	0	TTN	2	179393379	In_Frame_Del	DEL	TCTGAGAGT	TCGA-US-A776-01A-13D-A33T-08	2445209	179393379	63805994	31	33071											
COL3A1	1281	broad.mit.edu	37	chr2	189859047	189859047	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaatggtgctcctggactgCgaggtggtgcagtaagttgc	15	8	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:189859047C>T	ENST00000304636.3	+	18	1452	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R428*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	428	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCTGGACTGCGAGGTGGTGC	0.488													False	0	False	2:189859047	0	T	189859047	C	T	189859047	4	4	133	1	0	0	0	0	0	1	0	0	3711	760	27	1	1352	1	COL3A1	2	189859047	Nonsense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	10465668	189859047	53340326	32	33072											
SF3B1	23451	broad.mit.edu	37	chr2	198266548	198266548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacttctctagtatagtagTtggcatattctgcatccata	6	9	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:198266548T>C	ENST00000335508.6	-	16	2379	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTATAGTAGTTGGCATATTC	0.323			Mis		myelodysplastic syndrome								False	0	False	2:198266548	0	C	198266548	T	C	198266548	3	2	133	1	0	0	0	0	1	0	0	0	14230	1725	60	4	1666	4	SF3B1	2	198266548	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	8407501	198266548	44932825	33	33073											
HDAC4	9759	broad.mit.edu	37	chr2	240056274	240056274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgttgggcaaggatggCgatgtgtagaggggaagtgg	21	2	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:240056274C>T	ENST00000345617.3	-	10	1835	c.1044G>A	c.(1042-1044)tcG>tcA	p.S348S	HDAC4_ENST00000541256.1_Silent_p.S317S|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	348					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCAAGGATGGCGATGTGTAGA	0.632													False	0	False	2:240056274	0	T	240056274	C	T	240056274	2	4	133	1	0	0	0	0	0	0	0	1	7056	755	27	1		1	HDAC4	2	240056274	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	41789726	240056274	3143099	34	33074											
LRRN1	57633	broad.mit.edu	37	chr3	3887411	3887411	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagtcgaatccctccccaaTctgcgtgagatcagtatcca	7	14	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:3887411T>A	ENST00000319331.3	+	2	1847	c.1086T>A	c.(1084-1086)aaT>aaA	p.N362K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	362						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCCTCCCCAATCTGCGTGAGA	0.493													False	0	False	3:3887411	0	A	3887411	T	A	3887411	3	1	133	1	0	0	0	0	1	0	0	0	9096	1432	50	5	1088	5	LRRN1	3	3887411	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08		3887411	194135019	35	33075											
CAND2	23066	broad.mit.edu	37	chr3	12858160	12858160	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgctgtcaccctggcgCgacttcgtgccactgacctg	11	15	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:12858160C>T	ENST00000456430.2	+	10	1770	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	CAND2_ENST00000295989.5_Nonsense_Mutation_p.R484*	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	577					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CACCCTGGCGCGACTTCGTGC	0.642													False	0	False	3:12858160	0	T	12858160	C	T	12858160	4	4	133	1	0	0	0	0	0	1	0	0	2636	760	27	1	1767	1	CAND2	3	12858160	Nonsense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	8970749	12858160	185164270	36	33076											
WDR6	11180	broad.mit.edu	37	chr3	49049353	49049353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgctggcttgagggaaataTagccttggccctgggccaca	13	11	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:49049353T>C	ENST00000395474.3	+	2	756	c.476T>C	c.(475-477)aTa>aCa	p.I159T	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000608424.1_Missense_Mutation_p.I129T|WDR6_ENST00000448293.1_Missense_Mutation_p.I78T|WDR6_ENST00000489684.1_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	129					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GAGGGAAATATAGCCTTGGCC	0.557													False	0	False	3:49049353	0	C	49049353	T	C	49049353	3	2	133	1	0	0	0	0	1	0	0	0	17394	1406	49	4	482	4	WDR6	3	49049353	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	36191193	49049353	148973077	37	33077											
ARHGEF3	50650	broad.mit.edu	37	chr3	56789016	56789016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgagcctacctcctgaCgtttgatttccttggatgta	9	13	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:56789016C>T	ENST00000413728.2	-	3	929	c.386G>A	c.(385-387)cGt>cAt	p.R129H	ARHGEF3_ENST00000296315.3_Missense_Mutation_p.R123H|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R94H|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R155H|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R129H|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R123H|ARHGEF3_ENST00000498517.1_5'UTR	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	123	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TACCTCCTGACGTTTGATTTC	0.537													False	0	False	3:56789016	0	T	56789016	C	T	56789016	3	4	133	1	0	0	0	0	1	0	0	0	906	536	19	1	1244	1	ARHGEF3	3	56789016	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	7739663	56789016	141233414	38	33078											
FHIT	2272	broad.mit.edu	37	chr3	59999777	59999777	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatggaaatgtttttccaCcactgtcccgactctctggg	8	14	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:59999777C>A	ENST00000468189.1	-	6	575	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	FHIT_ENST00000476844.1_Missense_Mutation_p.V69L|FHIT_ENST00000492590.1_Missense_Mutation_p.V69L|FHIT_ENST00000341848.4_Missense_Mutation_p.V69L|FHIT_ENST00000466788.1_5'UTR			P49789	FHIT_HUMAN	fragile histidine triad	69	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		TGTTTTTCCACCACTGTCCCG	0.512			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				False	0	False	3:59999777	0	A	59999777	C	A	59999777	3	1	133	1	0	0	0	0	1	0	0	0	5917	507	18	3	254	3	FHIT	3	59999777	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3210761	59999777	138022653	39	33079											
ATP11B	23200	broad.mit.edu	37	chr3	182597407	182597407	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattgttcagctgtattatgCtgtcgtatggctccactgca	9	9	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:182597407C>A	ENST00000323116.5	+	20	2636	c.2376C>A	c.(2374-2376)tgC>tgA	p.C792*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	792					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CTGTATTATGCTGTCGTATGG	0.363													False	0	False	3:182597407	0	A	182597407	C	A	182597407	4	1	133	1	0	0	0	0	0	1	0	0	1124	805	28	3	2454	3	ATP11B	3	182597407	Nonsense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	122597630	182597407	15425023	40	33080											
ZNF595	152687	broad.mit.edu	37	chr4	59365	59365	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggccatagaattctcccctGaagagtggaaatgtctggac	11	9	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:59365G>A	ENST00000509152.2	+	2	231	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.E16K					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ATTCTCCCCTGAAGAGTGGAA	0.423													False	0	False	4:59365	0	A	59365	G	A	59365	3	1	133	1	0	0	0	0	1	0	0	0	18108	1291	45	2	52	2	ZNF595	4	59365	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		59365	191094911	41	33081											
TMEM175	84286	broad.mit.edu	37	chr4	952216	952216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcggggcctcgcccggcccGaacaccccccgccagccccc	11	24	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:952216G>A	ENST00000264771.4	+	11	1632	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	TMEM175_ENST00000508204.1_Missense_Mutation_p.E401K|TMEM175_ENST00000515740.1_Missense_Mutation_p.E367K	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	483						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCCGGCCCGAACACCCCCC	0.741													False	0	True	4:952216	0	A	952216	G	A	952216	3	1	133	1	0	0	0	0	1	0	0	0	16173	1059	37	1	1485	1	TMEM175	4	952216	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	892851	952216	190202060	42	33082											
ADH1A	124	broad.mit.edu	37	chr4	100208113	100208113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtaccactaaccacgtgGtcatctgtgccacagattcc	8	13	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:100208113G>A	ENST00000209668.2	-	3	266	c.153C>T	c.(151-153)gaC>gaT	p.D51D	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	51					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TAACCACGTGGTCATCTGTGC	0.478													False	0	False	4:100208113	0	A	100208113	G	A	100208113	2	1	133	1	0	0	0	0	0	0	0	1	307	1252	44	2		2	ADH1A	4	100208113	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	99255897	100208113	90946163	43	33083											
CENPE	1062	broad.mit.edu	37	chr4	104104440	104104440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacagccttccttgagccGcacacctgaatttattaaac	5	12	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:104104440G>A	ENST00000265148.3	-	10	840	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	CENPE_ENST00000380026.3_Missense_Mutation_p.R251W	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	251	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCTTGAGCCGCACACCTGAA	0.333													False	0	False	4:104104440	0	A	104104440	G	A	104104440	3	1	133	1	0	0	0	0	1	0	0	0	3253	1086	38	1	7514	1	CENPE	4	104104440	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3896327	104104440	87049836	44	33084											
FGA	2243	broad.mit.edu	37	chr4	155507526	155507526	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccggtactaccaggtctaGggctcccagggttttggttt	12	10	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:155507526G>T	ENST00000302053.3	-	5	1133	c.1055C>A	c.(1054-1056)cCt>cAt	p.P352H	FGA_ENST00000403106.3_Missense_Mutation_p.P352H	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	352					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACCAGGTCTAGGGCTCCCAGG	0.557													False	0	True	4:155507526	0	T	155507526	G	T	155507526	3	4	133	1	0	0	0	0	1	0	0	0	5870	1000	35	3	1597	3	FGA	4	155507526	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	51403086	155507526	35646750	45	33085											
PDGFC	56034	broad.mit.edu	37	chr4	157689020	157689020	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaccacagcgtttaaccaGgagacaacctggccagaaaa	8	14	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:157689020G>T	ENST00000502773.1	-	5	1316	c.826C>A	c.(826-828)Ctg>Atg	p.L276M	PDGFC_ENST00000542208.1_Missense_Mutation_p.L121M|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.L113M|PDGFC_ENST00000504672.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	276					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CGTTTAACCAGGAGACAACCT	0.448													False	0	False	4:157689020	0	T	157689020	G	T	157689020	3	4	133	1	0	0	0	0	1	0	0	0	11727	991	35	3	219	3	PDGFC	4	157689020	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2181494	157689020	33465256	46	33086											
DDX60	55601	broad.mit.edu	37	chr4	169197237	169197237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatctggctatgagttgccGatcatcttcttgtaaaagtt	9	8	4	1	rs140580597		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:169197237G>A	ENST00000393743.3	-	15	2365	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	692							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATGAGTTGCCGATCATCTTCT	0.368													False	0	False	4:169197237	0	A	169197237	G	A	169197237	3	1	133	1	0	0	0	0	1	0	0	0	4403	1057	37	1	3160	1	DDX60	4	169197237	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	11508217	169197237	21957039	47	33087											
C6	729	broad.mit.edu	37	chr5	41172372	41172372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgcacctatgttccaCttttgttttcttagcaaata	8	8	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:41172372C>T	ENST00000263413.3	-	9	1510	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.V416M	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	416	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTATGTTCCACTTTTGTTTTC	0.433													False	0	True	5:41172372	0	T	41172372	C	T	41172372	3	4	133	1	0	0	0	0	1	0	0	0	2332	565	20	2	1598	2	C6	5	41172372	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		41172372	139742888	48	33088											
PGGT1B	5229	broad.mit.edu	37	chr5	114598513	114598513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagccgctctccctcaccGctccctgctagcctctcatc	5	22	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:114598513G>A	ENST00000419445.1	-	1	56	c.36C>T	c.(34-36)agC>agT	p.S12S	CTC-428G20.6_ENST00000606615.1_RNA|PGGT1B_ENST00000379615.3_Silent_p.S12S	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	12					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	CTCCCTCACCGCTCCCTGCTA	0.617													False	0	False	5:114598513	0	A	114598513	G	A	114598513	2	1	133	1	0	0	0	0	0	0	0	1	11858	1078	38	1		1	PGGT1B	5	114598513	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	73426141	114598513	66316747	49	33089											
PRR16	51334	broad.mit.edu	37	chr5	120022194	120022194	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agggaggtccacttacacagTgaacctgtccacccaccggg	11	14	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:120022194T>A	ENST00000379551.2	+	3	993	c.636T>A	c.(634-636)agT>agA	p.S212R	PRR16_ENST00000505123.1_Missense_Mutation_p.S165R|PRR16_ENST00000446965.1_Missense_Mutation_p.S165R|PRR16_ENST00000407149.2_Missense_Mutation_p.S235R	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	235	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACTTACACAGTGAACCTGTCC	0.498													False	0	False	5:120022194	0	A	120022194	T	A	120022194	3	1	133	1	0	0	0	0	1	0	0	0	12665	1693	59	5	642	5	PRR16	5	120022194	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	5423681	120022194	60893066	50	33090											
FBN2	2201	broad.mit.edu	37	chr5	127673720	127673720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgggatggtgacagctcGtgtcccagtgggcagtcaca	14	11	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:127673720G>A	ENST00000508053.1	-	33	4541	c.3567C>T	c.(3565-3567)caC>caT	p.H1189H	FBN2_ENST00000262464.4_Silent_p.H1189H|FBN2_ENST00000507835.1_Silent_p.H39H|FBN2_ENST00000508989.1_Silent_p.H1156H			P35556	FBN2_HUMAN	fibrillin 2	1189	EGF-like 17; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTGACAGCTCGTGTCCCAGTG	0.522													False	0	False	5:127673720	0	A	127673720	G	A	127673720	2	1	133	1	0	0	0	0	0	0	0	1	5743	1136	40	1		1	FBN2	5	127673720	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	7651526	127673720	53241540	51	33091											
PCDHB13	0	broad.mit.edu	37	chr5	140595334	140595334	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgctgagcagcgaggcgctgGtgcgcgtggtggtgctggac	20	10	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:140595334G>C	ENST00000341948.4	+	1	1826	c.1639G>C	c.(1639-1641)Gtg>Ctg	p.V547L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		547	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGCGCTGGTGCGCGTGGT	0.711													False	0	False	5:140595334	0	C	140595334	G	C	140595334	3	2	133	1	0	0	0	0	1	0	0	0	11606	1261	44	5	1641	5	PCDHB13	5	140595334	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	12921614	140595334	40319926	52	33092											
ZNF300	91975	broad.mit.edu	37	chr5	150275578	150275578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacattcggtacactcatacGgcttctctccagtatgagct	7	13	2	1	rs141369580		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:150275578G>A	ENST00000446148.2	-	7	1698	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L	ZNF300_ENST00000418587.2_Missense_Mutation_p.P372L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.P408L|ZNF300_ENST00000394226.2_Missense_Mutation_p.P408L	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACTCATACGGCTTCTCTCC	0.448													False	0	False	5:150275578	0	A	150275578	G	A	150275578	3	1	133	1	0	0	0	0	1	0	0	0	17914	1116	39	1	595	1	ZNF300	5	150275578	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	9680244	150275578	30639682	53	33093											
GLRA1	2741	broad.mit.edu	37	chr5	151208496	151208496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctaccttgtgatgtctccGcttcctcctgaatcggagca	9	14	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:151208496G>A	ENST00000274576.4	-	8	1337	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	GLRA1_ENST00000545569.1_Missense_Mutation_p.R266W|GLRA1_ENST00000455880.2_Missense_Mutation_p.R349W	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	349					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATGTCTCCGCTTCCTCCTG	0.463													False	0	False	5:151208496	0	A	151208496	G	A	151208496	3	1	133	1	0	0	0	0	1	0	0	0	6499	1086	38	1	336	1	GLRA1	5	151208496	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	932918	151208496	29706764	54	33094											
GALNT10	55568	broad.mit.edu	37	chr5	153789282	153789282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctgggacctgcccaaatTctacccacccgtggagcccc	9	18	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:153789282T>C	ENST00000297107.6	+	9	1483	c.1346T>C	c.(1345-1347)tTc>tCc	p.F449S	GALNT10_ENST00000377657.3_Missense_Mutation_p.F122S|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.F387S|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	449						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CTGCCCAAATTCTACCCACCC	0.557													False	0	False	5:153789282	0	C	153789282	T	C	153789282	3	2	133	1	0	0	0	0	1	0	0	0	6251	1783	62	4	1380	4	GALNT10	5	153789282	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	2580786	153789282	27125978	55	33095											
C5orf54	63920	broad.mit.edu	37	chr5	159822466	159822466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaaccagtagcgaacaTagtcatcatcccatttgcgt	9	10	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:159822466T>C	ENST00000408953.3	-	2	539	c.32A>G	c.(31-33)tAt>tGt	p.Y11C	C5orf54_ENST00000523213.1_Missense_Mutation_p.Y11C	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	11										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						gtagcgaacatagtcatcatc	0.423													False	0	False	5:159822466	0	C	159822466	T	C	159822466	3	2	133	1	0	0	0	0	1	0	0	0	2327	1406	49	4	1756	4	C5orf54	5	159822466	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	6033184	159822466	21092794	56	33096											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	133	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-US-A776-01A-13D-A33T-08		7393450	163721617	57	33097											
NRSN1	140767	broad.mit.edu	37	chr6	24145869	24145869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaaatcgaagcatttggcGaagccgattttgtggtggtc	12	8	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:24145869G>A	ENST00000378491.4	+	4	584	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	95					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AGCATTTGGCGAAGCCGATTT	0.507													False	0	False	6:24145869	0	A	24145869	G	A	24145869	3	1	133	1	0	0	0	0	1	0	0	0	10730	1059	37	1	289	1	NRSN1	6	24145869	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	16752419	24145869	146969198	58	33098											
HLA-DRB5	3127	broad.mit.edu	37	chr6	32497984	32497985	+	In_Frame_Ins	INS	-	-	GGCTTC													ccatgtaggaacctccagggINSagcttcagacacaccatgct							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:32497984_32497985insGGCTTC	ENST00000374975.3	-	1	79_80	c.17_18insGAAGCC	c.(16-18)ctc>ctGAAGCCc	p.6_7insKP		NM_002125.3	NP_002116.2	Q30154	DRB5_HUMAN	major histocompatibility complex, class II, DR beta 5	6					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AACCTCCAGGGAGCTTCAGACA	0.579													False	0	True	6:32497984	0	GGCTTC	32497985	-	GGCTTC	32497984	7	5	133	1	0	1	1	0	0	0	0	0	7256	1161	41	0	806	0	HLA-DRB5	6	32497984	In_Frame_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	8352115	32497984	138617083	59	33099											
PRPH2	5961	broad.mit.edu	37	chr6	42689575	42689575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgaaaaccgttgttgccGcagcatttgaactcgatctg	9	12	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:42689575G>A	ENST00000230381.5	-	1	737	c.498C>T	c.(496-498)tgC>tgT	p.C166C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	166					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CGTTGTTGCCGCAGCATTTGA	0.507													False	0	False	6:42689575	0	A	42689575	G	A	42689575	2	1	133	1	0	0	0	0	0	0	0	1	12653	1079	38	1		1	PRPH2	6	42689575	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	10191591	42689575	128425492	60	33100											
TBCC	6903	broad.mit.edu	37	chr6	42713174	42713174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catacagtctgaccgtgcagTtgctcagttcggtcaaaaga	10	10	3	2	rs147066602	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:42713174T>C	ENST00000244625.2	-	2	1201	c.638A>G	c.(637-639)aAc>aGc	p.N213S	TBCC_ENST00000372876.1_Missense_Mutation_p.N213S			Q15814	TBCC_HUMAN	tubulin folding cofactor C	213	C-CAP/cofactor C-like.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			GACCGTGCAGTTGCTCAGTTC	0.577													False	0	False	6:42713174	0	C	42713174	T	C	42713174	3	2	133	1	0	0	0	0	1	0	0	0	15713	1725	60	4	406	4	TBCC	6	42713174	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	23599	42713174	128401893	61	33101											
BACH2	60468	broad.mit.edu	37	chr6	90718567	90718567	+	Translation_Start_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcatccacagacatgccGttcacaccctgaaagaaaga	6	13	2	4			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:90718567G>A	ENST00000257749.4	-	0	704				BACH2_ENST00000537989.1_De_novo_Start_OutOfFrame|BACH2_ENST00000343122.3_De_novo_Start_OutOfFrame	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2							nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CAGACATGCCGTTCACACCCT	0.478													False	0	False	6:90718567	0	A	90718567	G	A	90718567	1	1	133	1	0	0	0	0	0	0	0	0	1288	1160	40	1		1	BACH2	6	90718567	Translation_Start_Site	SNP	G	TCGA-US-A776-01A-13D-A33T-08	48005393	90718567	80396500	62	33102											
AIM1	202	broad.mit.edu	37	chr6	106987378	106987378	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggatacagaagaagcgtacAttggatccatgcggcctctg	13	9	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:106987378A>T	ENST00000369066.3	+	7	4082	c.3595A>T	c.(3595-3597)Att>Ttt	p.I1199F		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1199	Beta/gamma crystallin 'Greek key' 4.						sugar binding	p.I1199V(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAAGCGTACATTGGATCCAT	0.443													False	0	False	6:106987378	0	T	106987378	A	T	106987378	3	4	133	1	0	0	0	0	1	0	0	0	430	217	8	5	3621	5	AIM1	6	106987378	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	16268811	106987378	64127689	63	33103											
VTA1	51534	broad.mit.edu	37	chr6	142539725	142539725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagtatgaagatgtaagcaCtgctgtccagaatctacaaa	9	8	1	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:142539725C>A	ENST00000367630.4	+	8	927	c.869C>A	c.(868-870)aCt>aAt	p.T290N	VTA1_ENST00000452973.2_Missense_Mutation_p.T205N|VTA1_ENST00000367621.1_Missense_Mutation_p.T232N	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	290	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GATGTAAGCACTGCTGTCCAG	0.438													False	0	False	6:142539725	0	A	142539725	C	A	142539725	3	1	133	1	0	0	0	0	1	0	0	0	17317	565	20	3	899	3	VTA1	6	142539725	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	35552347	142539725	28575342	64	33104											
GRM1	2911	broad.mit.edu	37	chr6	146480697	146480697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctgagcgccatgcggcGccttggcgtcgtgggcgagt	16	13	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:146480697G>A	ENST00000392299.2	+	3	1384	c.914G>A	c.(913-915)cGc>cAc	p.R305H	GRM1_ENST00000355289.4_Missense_Mutation_p.R305H|GRM1_ENST00000282753.1_Missense_Mutation_p.R305H|GRM1_ENST00000507907.1_Missense_Mutation_p.R305H|GRM1_ENST00000361719.2_Missense_Mutation_p.R305H|GRM1_ENST00000492807.2_Missense_Mutation_p.R305H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	305					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCCATGCGGCGCCTTGGCGTC	0.557													False	0	False	6:146480697	0	A	146480697	G	A	146480697	3	1	133	1	0	0	0	0	1	0	0	0	6843	1087	38	1	920	1	GRM1	6	146480697	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3940972	146480697	24634370	65	33105											
PDE10A	10846	broad.mit.edu	37	chr6	165846554	165846554	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aattgcagtgacaattggtaAgcaaagaacagactggatac	10	6	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:165846554A>T	ENST00000366882.1	-	8	725	c.571T>A	c.(571-573)Tta>Ata	p.L191I	PDE10A_ENST00000354448.4_Missense_Mutation_p.L191I|PDE10A_ENST00000539869.2_Missense_Mutation_p.L201I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	191	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ACAATTGGTAAGCAAAGAACA	0.443													False	0	False	6:165846554	0	T	165846554	A	T	165846554	3	4	133	1	0	0	0	0	1	0	0	0	11698	69	3	5	1832	5	PDE10A	6	165846554	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	19365857	165846554	5268513	66	33106											
RADIL	55698	broad.mit.edu	37	chr7	4876198	4876198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggtcggggttcccttcgCgcgactccgctgcagcctcc	14	17	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:4876198C>T	ENST00000399583.3	-	3	761	c.574G>A	c.(574-576)Gcg>Acg	p.A192T	RADIL_ENST00000538469.1_5'UTR|RADIL_ENST00000536091.1_Missense_Mutation_p.A192T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	192					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GTTCCCTTCGCGCGACTCCGC	0.657													False	0	True	7:4876198	0	T	4876198	C	T	4876198	3	4	133	1	0	0	0	0	1	0	0	0	13076	768	27	1	2705	1	RADIL	7	4876198	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		4876198	154262465	67	33107											
NFE2L3	9603	broad.mit.edu	37	chr7	26225083	26225084	+	Frame_Shift_Ins	INS	-	-	AAGTT													cagacgaagagggaaaaataINSaagttgctgcgcagaactgt							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:26225083_26225084insAAGTT	ENST00000056233.3	+	4	2024_2025	c.1765_1766insAAGTT	c.(1765-1767)aaafs	p.-590fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3						transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGGGAAAAATAAAGTTGCTGCG	0.376													False	1	True	7:26225083	0	AAGTT	26225084	-	AAGTT	26225083	7	5	133	1	0	1	1	0	0	0	0	0	10437	363	13	0	1779	0	NFE2L3	7	26225083	Frame_Shift_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	21348885	26225083	132913580	68	33108											
TAX1BP1	8887	broad.mit.edu	37	chr7	27868361	27868361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtgcccgatgtgcagCgagcagttccctcctgacta	12	12	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:27868361C>T	ENST00000396319.2	+	17	2371	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	TAX1BP1_ENST00000265393.6_Silent_p.S719S|TAX1BP1_ENST00000543117.1_Silent_p.S719S|TAX1BP1_ENST00000433216.2_Silent_p.S562S|TAX1BP1_ENST00000409980.1_Silent_p.S785S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	761					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	p.S761S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CGATGTGCAGCGAGCAGTTCC	0.418													False	0	False	7:27868361	0	T	27868361	C	T	27868361	2	4	133	1	0	0	0	0	0	0	0	1	15676	767	27	1		1	TAX1BP1	7	27868361	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1643278	27868361	131270302	69	33109											
CHN2	1124	broad.mit.edu	37	chr7	29552295	29552295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaccctgcatgatatgCggtaccaaaagctgattgtg	10	10	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:29552295C>T	ENST00000222792.6	+	13	1881	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Missense_Mutation_p.R436W|CHN2_ENST00000439711.2_Missense_Mutation_p.R269W|CHN2_ENST00000539389.1_Missense_Mutation_p.R307W|CHN2_ENST00000421775.2_Missense_Mutation_p.R257W|CHN2_ENST00000435288.2_Missense_Mutation_p.R175W|CHN2_ENST00000495789.2_Missense_Mutation_p.R464W|CHN2_ENST00000424025.2_Missense_Mutation_p.R270W|CHN2_ENST00000539406.1_Missense_Mutation_p.R526W|CHN2_ENST00000409041.4_Missense_Mutation_p.R315W	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	451	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GCATGATATGCGGTACCAAAA	0.463													False	0	False	7:29552295	0	T	29552295	C	T	29552295	3	4	133	1	0	0	0	0	1	0	0	0	3386	759	27	1	1569	1	CHN2	7	29552295	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1683934	29552295	129586368	70	33110											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	133	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-US-A776-01A-13D-A33T-08	14601483	44153778	114984885	71	33111											
STEAP4	79689	broad.mit.edu	37	chr7	87912452	87912452	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatatccatcactctttgcTtggctttgctgtcatttcca	5	12	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:87912452T>A	ENST00000380079.4	-	3	589	c.488A>T	c.(487-489)aAg>aTg	p.K163M	STEAP4_ENST00000301959.5_Intron|STEAP4_ENST00000414498.1_Missense_Mutation_p.K163M|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	163					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CACTCTTTGCTTGGCTTTGCT	0.358													False	0	False	7:87912452	0	A	87912452	T	A	87912452	3	1	133	1	0	0	0	0	1	0	0	0	15362	1609	56	5	903	5	STEAP4	7	87912452	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	43758674	87912452	71226211	72	33112											
COPS6	10980	broad.mit.edu	37	chr7	99687011	99687011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaccactggatccgcatgCgctcccaggaggggcggcct	14	15	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:99687011C>T	ENST00000303904.3	+	2	212	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	COPS6_ENST00000418625.1_Missense_Mutation_p.R58C	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	59	MPN.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GATCCGCATGCGCTCCCAGGA	0.597													False	0	False	7:99687011	0	T	99687011	C	T	99687011	3	4	133	1	0	0	0	0	1	0	0	0	3760	768	27	1	181	1	COPS6	7	99687011	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	11774559	99687011	59451652	73	33113											
ZAN	7455	broad.mit.edu	37	chr7	100361458	100361458	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccaggtggtgaattcccCgtcttgtgattcatctctgc	10	11	3	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100361458C>T	ENST00000542585.1	+	0	4164				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGAATTCCCCGTCTTGTGAT	0.562													False	0	True	7:100361458	0	T	100361458	C	T	100361458	1	4	133	0	1	0	0	0	0	0	0	0	17597	652	23	1		1	ZAN	7	100361458	RNA	SNP	C	TCGA-US-A776-01A-13D-A33T-08	674447	100361458	58777205	74	33114											
SERPINE1	5054	broad.mit.edu	37	chr7	100773787	100773787	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagatcagcaccacagacgcGatcttcgtccagcgggatct	11	13	3	2	rs6091	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100773787G>A	ENST00000223095.4	+	3	514	c.357G>A	c.(355-357)gcG>gcA	p.A119A	SERPINE1_ENST00000445463.2_Silent_p.A104A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	119					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CCACAGACGCGATCTTCGTCC	0.597													False	0	False	7:100773787	0	A	100773787	G	A	100773787	2	1	133	1	0	0	0	0	0	0	0	1	14192	1045	37	1		1	SERPINE1	7	100773787	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	412329	100773787	58364876	75	33115											
FAM3C	10447	broad.mit.edu	37	chr7	121011434	121011434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaaaatgcttctcaggGcaagcttttgagatcccaca	8	10	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:121011434G>A	ENST00000359943.3	-	5	405	c.192C>T	c.(190-192)tgC>tgT	p.C64C		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	64					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					GCTTCTCAGGGCAAGCTTTTG	0.413													False	0	True	7:121011434	0	A	121011434	G	A	121011434	2	1	133	1	0	0	0	0	0	0	0	1	5598	1195	42	2		2	FAM3C	7	121011434	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	20237647	121011434	38127229	76	33116											
CPA1	1357	broad.mit.edu	37	chr7	130025029	130025029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcggagacttaccacgGcaagtttgccaattccgaag	10	12	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:130025029G>A	ENST00000011292.3	+	8	980	c.830G>A	c.(829-831)gGc>gAc	p.G277D	CPA1_ENST00000484324.1_Missense_Mutation_p.G189D	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	277					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACTTACCACGGCAAGTTTGCC	0.562													False	0	False	7:130025029	0	A	130025029	G	A	130025029	3	1	133	1	0	0	0	0	1	0	0	0	3812	1203	42	2	860	2	CPA1	7	130025029	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	9013595	130025029	29113634	77	33117											
OR2A2	442361	broad.mit.edu	37	chr7	143807373	143807373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccagacaaaggagggccGcataaaggccttctccacct	10	13	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:143807373G>A	ENST00000408979.2	+	1	767	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AAGGAGGGCCGCATAAAGGCC	0.522													False	0	False	7:143807373	0	A	143807373	G	A	143807373	3	1	133	1	0	0	0	0	1	0	0	0	11045	1087	38	1	700	1	OR2A2	7	143807373	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	13782344	143807373	15331290	78	33118											
UBE3C	9690	broad.mit.edu	37	chr7	156994419	156994419	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctattcctttttaggcttCtctacagtttagcctttaat	4	10	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:156994419C>A	ENST00000348165.5	+	11	1696	c.1336C>A	c.(1336-1338)Ctc>Atc	p.L446I		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	446					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTTTAGGCTTCTCTACAGTTT	0.318													False	0	False	7:156994419	0	A	156994419	C	A	156994419	3	1	133	1	0	0	0	0	1	0	0	0	16965	913	32	3	1378	3	UBE3C	7	156994419	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	13187046	156994419	2144244	79	33119											
TRPA1	8989	broad.mit.edu	37	chr8	72981266	72981266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtagccttaccttcatcaCctcattattcatgccctgca	4	15	4	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:72981266C>T	ENST00000262209.4	-	3	643	c.436G>A	c.(436-438)Gtg>Atg	p.V146M		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	146						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACCTTCATCACCTCATTATTC	0.542													False	0	False	8:72981266	0	T	72981266	C	T	72981266	3	4	133	1	0	0	0	0	1	0	0	0	16660	507	18	2	3023	2	TRPA1	8	72981266	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		72981266	73382756	80	33120											
RAD54B	25788	broad.mit.edu	37	chr8	95403999	95403999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtagtgctcctggtcgGcaaaagacaacattctctat	8	10	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:95403999G>A	ENST00000336148.5	-	10	1771	c.1647C>T	c.(1645-1647)tgC>tgT	p.C549C		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.C549C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTCCTGGTCGGCAAAAGACAA	0.398								Direct reversal of damage;Homologous recombination					False	0	False	8:95403999	0	A	95403999	G	A	95403999	2	1	133	1	0	0	0	0	0	0	0	1	13071	1195	42	2		2	RAD54B	8	95403999	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	22422733	95403999	50960023	81	33121											
GRHL2	79977	broad.mit.edu	37	chr8	102643951	102643952	+	Splice_Site	INS	-	-	TG													cccaaactcaatgcaacagcINStgtgagtttcactgagacta							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:102643951_102643952insTG	ENST00000251808.3	+	10	1682_1683	c.1344_1345insTG	c.(1345-1347)tcc>TGtcc	p.S449fs	GRHL2_ENST00000395927.1_Splice_Site_p.S433fs	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	449						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AATGCAACAGCTGTGAGTTTCA	0.48													False	2	False	8:102643951	0	TG	102643952	-	TG	102643951	8	5	133	1	0	1	1	0	0	0	1	0	6811	811	28	0	1382	0	GRHL2	8	102643951	Splice_Site	INS	-	TCGA-US-A776-01A-13D-A33T-08	7239952	102643951	43720071	82	33122											
TIGD5	84948	broad.mit.edu	37	chr8	144681830	144681830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatggagggacctcagtgcCgactgccggggaggccgtgc	17	12	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:144681830C>T	ENST00000504548.2	+	1	1757	c.1757C>T	c.(1756-1758)cCg>cTg	p.P586L	TIGD5_ENST00000321385.3_Missense_Mutation_p.P537L	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	586					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACCTCAGTGCCGACTGCCGGG	0.706													False	0	False	8:144681830	0	T	144681830	C	T	144681830	3	4	133	1	0	0	0	0	1	0	0	0	15981	652	23	1	1759	1	TIGD5	8	144681830	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	42037879	144681830	1682192	83	33123											
TAF1L	138474	broad.mit.edu	37	chr9	32635334	32635334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagtcaattcttcatttgCcgtgagttcagtgattaggc	9	10	4	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:32635334C>T	ENST00000242310.4	-	1	333	c.244G>A	c.(244-246)Gca>Aca	p.A82T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	82					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTCATTTGCCGTGAGTTCA	0.517													False	0	False	9:32635334	0	T	32635334	C	T	32635334	3	4	133	1	0	0	0	0	1	0	0	0	15605	739	26	2	5240	2	TAF1L	9	32635334	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		32635334	108578097	84	33124											
UBAP1	51271	broad.mit.edu	37	chr9	34241398	34241398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcctcgccagcttgcaGcacaacagcatcctcacacc	5	20	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:34241398G>A	ENST00000536252.1	+	5	773	c.375G>A	c.(373-375)caG>caA	p.Q125Q	UBAP1_ENST00000540348.1_Silent_p.Q125Q|UBAP1_ENST00000545103.1_Silent_p.Q189Q|UBAP1_ENST00000543944.1_Silent_p.Q161Q|UBAP1_ENST00000297661.4_Silent_p.Q125Q|UBAP1_ENST00000359544.2_Silent_p.Q125Q|UBAP1_ENST00000379186.4_Silent_p.Q125Q	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	125						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CCAGCTTGCAGCACAACAGCA	0.517													False	0	False	9:34241398	0	A	34241398	G	A	34241398	2	1	133	1	0	0	0	0	0	0	0	1	16920	962	34	2		2	UBAP1	9	34241398	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	1606064	34241398	106972033	85	33125											
FBXO10	26267	broad.mit.edu	37	chr9	37518160	37518160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctgcagcccgctgcCccggttgccaatgatatcgt	11	15	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:37518160C>T	ENST00000432825.2	-	9	2524	c.2476G>A	c.(2476-2478)Ggc>Agc	p.G826S	FBXO10_ENST00000541829.1_Missense_Mutation_p.G351S|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	826						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGCCCGCTGCCCCGGTTGCCA	0.567													False	0	True	9:37518160	0	T	37518160	C	T	37518160	3	4	133	1	0	0	0	0	1	0	0	0	5766	623	22	2	406	2	FBXO10	9	37518160	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3276762	37518160	103695271	86	33126											
CBWD3	445571	broad.mit.edu	37	chr9	70871889	70871889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattagggagtgatatttaCcttgatggtaagttaaaaaa	10	2	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294													False	0	False	9:70871889	0	T	70871889	C	T	70871889	2	4	133	1	0	0	0	0	0	0	0	1	2734	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	33353729	70871889	70341542	87	33127											
SVEP1	79987	broad.mit.edu	37	chr9	113169444	113169444	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtcatcctggcatgttctCctctcagtgccattcagcac	7	14	4	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:113169444C>T	ENST00000401783.2	-	38	8772	c.8436G>A	c.(8434-8436)agG>agA	p.R2812R	SVEP1_ENST00000297826.5_Silent_p.R738R|SVEP1_ENST00000374469.1_Silent_p.R2789R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2812	Sushi 23.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGCATGTTCTCCTCTCAGTGC	0.502													False	0	False	9:113169444	0	T	113169444	C	T	113169444	2	4	133	1	0	0	0	0	0	0	0	1	15502	854	30	2		2	SVEP1	9	113169444	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	42297555	113169444	28043987	88	33128											
SURF4	6836	broad.mit.edu	37	chr9	136230524	136230524	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatggtccagaaggcgttgaAatatacgttgatggcaaaga	12	5	0	4			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:136230524A>T	ENST00000371989.3	-	6	784	c.655T>A	c.(655-657)Ttc>Atc	p.F219I	SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	219						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		AAGGCGTTGAAATATACGTTG	0.483													False	0	True	9:136230524	0	T	136230524	A	T	136230524	3	4	133	1	0	0	0	0	1	0	0	0	15487	14	1	5	158	5	SURF4	9	136230524	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	23061080	136230524	4982907	89	33129											
CARD9	64170	broad.mit.edu	37	chr9	139262214	139262214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcccgcacctgcttgcGcagcgcgtccttctcctgca	9	19	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:139262214G>A	ENST00000371732.5	-	8	1309	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	CARD9_ENST00000371734.3_Missense_Mutation_p.R382C	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	382					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ACCTGCTTGCGCAGCGCGTCC	0.692													False	0	False	9:139262214	0	A	139262214	G	A	139262214	3	1	133	1	0	0	0	0	1	0	0	0	2672	1087	38	1	543	1	CARD9	9	139262214	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3031690	139262214	1951217	90	33130											
PFKFB3	5209	broad.mit.edu	37	chr10	6264820	6264820	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggccctctgtgctcagtcCtaccaggacctggtccagcg	11	17	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:6264820C>T	ENST00000379775.4	+	11	1416	c.1086C>T	c.(1084-1086)tcC>tcT	p.S362S	PFKFB3_ENST00000540253.1_Silent_p.S376S|PFKFB3_ENST00000379789.4_Silent_p.S342S|PFKFB3_ENST00000360521.2_Silent_p.S362S|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379785.1_Silent_p.S362S|PFKFB3_ENST00000317350.4_Silent_p.S362S|PFKFB3_ENST00000379782.3_Silent_p.S362S	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	362	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GTGCTCAGTCCTACCAGGACC	0.667													False	0	False	10:6264820	0	T	6264820	C	T	6264820	2	4	133	1	0	0	0	0	0	0	0	1	11831	668	24	2		2	PFKFB3	10	6264820	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08		6264820	129269927	91	33131											
RET	5979	broad.mit.edu	37	chr10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggactacttggaccttgCggcgtccactccatctgact	9	15	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGGACCTTGCGGCGTCCACT	0.557		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				False	0	False	10:43622039	0	T	43622039	C	T	43622039	3	4	133	1	0	0	0	0	1	0	0	0	13314	768	27	1	3130	1	RET	10	43622039	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	37357219	43622039	91912708	92	33132											
STOX1	219736	broad.mit.edu	37	chr10	70644582	70644582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccacctgaagaatggcccGtccgagatgaagatgacttg	11	11	0	6			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:70644582G>A	ENST00000298596.6	+	3	1113	c.1030G>A	c.(1030-1032)Gtc>Atc	p.V344I	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.V234I|STOX1_ENST00000399169.4_Missense_Mutation_p.V344I|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	344						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AGAATGGCCCGTCCGAGATGA	0.418													False	0	True	10:70644582	0	A	70644582	G	A	70644582	3	1	133	1	0	0	0	0	1	0	0	0	15401	1145	40	1	1040	1	STOX1	10	70644582	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	27022543	70644582	64890165	93	33133											
SEC24C	9632	broad.mit.edu	37	chr10	75523278	75523278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagatgacaggaacaacCggggtacagagccatttgtt	12	7	0	4			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:75523278C>T	ENST00000339365.2	+	8	1180	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	SEC24C_ENST00000345254.4_Missense_Mutation_p.R340W|SEC24C_ENST00000411652.2_Missense_Mutation_p.R221W|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	340					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAGGAACAACCGGGGTACAGA	0.493													False	0	True	10:75523278	0	T	75523278	C	T	75523278	3	4	133	1	0	0	0	0	1	0	0	0	14077	643	23	1	1040	1	SEC24C	10	75523278	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	4878696	75523278	60011469	94	33134											
PPRC1	23082	broad.mit.edu	37	chr10	103907024	103907024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagggccgccgaggccgCaacagccgttctgtcagctc	14	15	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:103907024C>T	ENST00000278070.2	+	9	4314	c.4275C>T	c.(4273-4275)cgC>cgT	p.R1425R	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Silent_p.R392R	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1425	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCGAGGCCGCAACAGCCGTT	0.622													False	0	False	10:103907024	0	T	103907024	C	T	103907024	2	4	133	1	0	0	0	0	0	0	0	1	12484	697	25	2		2	PPRC1	10	103907024	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	28383746	103907024	31627723	95	33135											
DMBT1	1755	broad.mit.edu	37	chr10	124402694	124402694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatctcttcgcattgcccGcttccggttcagggccttcc	9	17	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:124402694G>A	ENST00000338354.3	+	53	7128	c.7022G>A	c.(7021-7023)cGc>cAc	p.R2341H	DMBT1_ENST00000344338.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1713H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1713H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1061H|DMBT1_ENST00000368909.3_Missense_Mutation_p.R2341H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2341	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGCATTGCCCGCTTCCGGTTC	0.582													False	0	True	10:124402694	0	A	124402694	G	A	124402694	3	1	133	1	0	0	0	0	1	0	0	0	4607	1087	38	1	7232	1	DMBT1	10	124402694	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	20495670	124402694	11132053	96	33136											
OR52E4	390081	broad.mit.edu	37	chr11	5905894	5905894	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcatggcttatgaccgCtttgttgccatctgcaaccc	10	12	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:5905894C>A	ENST00000316987.2	+	1	394	c.372C>A	c.(370-372)cgC>cgA	p.R124R		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTATGACCGCTTTGTTGCCA	0.443													False	0	True	11:5905894	0	A	5905894	C	A	5905894	2	1	133	1	0	0	0	0	0	0	0	1	11184	784	28	3		3	OR52E4	11	5905894	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08		5905894	129100622	97	33137											
NLRP10	338322	broad.mit.edu	37	chr11	7982120	7982120	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacctgacacgctttgtagaGaatgtcatttttctgtacaa	7	8	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:7982120G>T	ENST00000328600.2	-	2	1200	c.1039C>A	c.(1039-1041)Ctc>Atc	p.L347I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	347	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTTGTAGAGAATGTCATTT	0.512													False	0	False	11:7982120	0	T	7982120	G	T	7982120	3	4	133	1	0	0	0	0	1	0	0	0	10540	942	33	3	932	3	NLRP10	11	7982120	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2076226	7982120	127024396	98	33138											
TMEM9B	56674	broad.mit.edu	37	chr11	8969885	8969885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattagctgaggacaacatgCcggtcaaagacagactttcg	10	9	1	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:8969885C>T	ENST00000534025.1	-	5	1038	c.579G>A	c.(577-579)cgG>cgA	p.R193R	TMEM9B_ENST00000309134.5_Silent_p.R119R|TMEM9B_ENST00000525069.1_Silent_p.R119R	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	193					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	p.R193R(1)		breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		GGACAACATGCCGGTCAAAGA	0.488													False	0	False	11:8969885	0	T	8969885	C	T	8969885	2	4	133	1	0	0	0	0	0	0	0	1	16309	726	26	2		2	TMEM9B	11	8969885	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	987765	8969885	126036631	99	33139											
ANO5	203859	broad.mit.edu	37	chr11	22297720	22297720	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcatgtccttgctgccaAgatgaccttcatcattgtta	8	11	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:22297720A>C	ENST00000324559.8	+	21	2812	c.2495A>C	c.(2494-2496)aAg>aCg	p.K832T	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	832						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTGCTGCCAAGATGACCTTC	0.363													False	0	False	11:22297720	0	C	22297720	A	C	22297720	3	2	133	1	0	0	0	0	1	0	0	0	700	72	3	4	2577	4	ANO5	11	22297720	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	13327835	22297720	112708796	100	33140											
PRDM11	56981	broad.mit.edu	37	chr11	45246344	45246344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaacttcctgagccccCcgtattgccaccacaggtac	9	15	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:45246344C>T	ENST00000263765.4	+	8	1670	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.P474L|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.P440L			Q9NQV5	PRD11_HUMAN	PR domain containing 11	474										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCTGAGCCCCCCGTATTGCCA	0.522													False	0	True	11:45246344	0	T	45246344	C	T	45246344	3	4	133	1	0	0	0	0	1	0	0	0	12528	623	22	2	1447	2	PRDM11	11	45246344	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	22948624	45246344	89760172	101	33141											
OR8I2	120586	broad.mit.edu	37	chr11	55860975	55860975	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctatgtactttttcctgagCaatttagcatttattgacat	5	8	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:55860975C>A	ENST00000302124.2	+	1	223	c.192C>A	c.(190-192)agC>agA	p.S64R		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TTTTCCTGAGCAATTTAGCAT	0.393													False	0	False	11:55860975	0	A	55860975	C	A	55860975	3	1	133	1	0	0	0	0	1	0	0	0	11308	709	25	3	194	3	OR8I2	11	55860975	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	10614631	55860975	79145541	102	33142											
LRRC32	2615	broad.mit.edu	37	chr11	76371472	76371472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgtaggagcagcgtccGcagagaccccagggctctgg	15	14	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:76371472G>A	ENST00000407242.2	-	3	1407	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	LRRC32_ENST00000260061.5_Missense_Mutation_p.R389W|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.R389W|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	389						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCAGCGTCCGCAGAGACCCC	0.652													False	0	False	11:76371472	0	A	76371472	G	A	76371472	3	1	133	1	0	0	0	0	1	0	0	0	9049	1086	38	1	827	1	LRRC32	11	76371472	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	20510497	76371472	58635044	103	33143											
FOLH1B	219595	broad.mit.edu	37	chr11	89405142	89405142	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgttgttcatgaaaCtgtgaggagctttggaacac	12	7	1	2	rs3018757	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:89405142C>T	ENST00000532352.1	+	0	1082							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTCATGAAACTGTGAGGAGC	0.433													False	0	True	11:89405142	0	T	89405142	C	T	89405142	1	4	133	0	1	0	0	0	0	0	0	0	6020	565	20	2		2	FOLH1B	11	89405142	RNA	SNP	C	TCGA-US-A776-01A-13D-A33T-08	13033670	89405142	45601374	104	33144											
ATM	472	broad.mit.edu	37	chr11	108158373	108158373	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accagagattgtggtggagtTattgatgacgttacatgagc	13	5	0	4			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:108158373T>G	ENST00000278616.4	+	27	4425	c.4040T>G	c.(4039-4041)tTa>tGa	p.L1347*	ATM_ENST00000452508.2_Nonsense_Mutation_p.L1347*	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1347					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTGGTGGAGTTATTGATGACG	0.348			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			False	0	False	11:108158373	0	G	108158373	T	G	108158373	4	3	133	1	0	0	0	0	0	1	0	0	1113	1764	61	4	4142	4	ATM	11	108158373	Nonsense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	18753231	108158373	26848143	105	33145											
FDXACB1	91893	broad.mit.edu	37	chr11	111746220	111746220	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacaaatttgactaaactgCtcagcttagagctctccggc	9	11	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:111746220C>A	ENST00000260257.4	-	5	1348	c.1301G>T	c.(1300-1302)aGc>aTc	p.S434I	ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.S285I	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	434					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GACTAAACTGCTCAGCTTAGA	0.413													False	0	False	11:111746220	0	A	111746220	C	A	111746220	3	1	133	1	0	0	0	0	1	0	0	0	5846	797	28	3	577	3	FDXACB1	11	111746220	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3587847	111746220	23260296	106	33146											
C11orf52	91894	broad.mit.edu	37	chr11	111796862	111796862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaacgctacagagtatgCgacccttcgcttcccccagg	9	14	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:111796862C>T	ENST00000278601.5	+	4	407	c.311C>T	c.(310-312)gCg>gTg	p.A104V	HSPB2-C11orf52_ENST00000534100.1_3'UTR|C11orf52_ENST00000527286.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	104										lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		ACAGAGTATGCGACCCTTCGC	0.547													False	0	False	11:111796862	0	T	111796862	C	T	111796862	3	4	133	1	0	0	0	0	1	0	0	0	1655	768	27	1	325	1	C11orf52	11	111796862	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	50642	111796862	23209654	107	33147											
TECTA	7007	broad.mit.edu	37	chr11	121031073	121031073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaccttgcgagggaagcCggtggtaagcagcgtggtgc	18	8	0	1	rs143546623		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:121031073C>T	ENST00000392793.1	+	15	5190	c.4919C>T	c.(4918-4920)cCg>cTg	p.P1640L	TECTA_ENST00000264037.2_Missense_Mutation_p.P1640L			O75443	TECTA_HUMAN	tectorin alpha	1640	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGAGGGAAGCCGGTGGTAAGC	0.542													False	0	False	11:121031073	0	T	121031073	C	T	121031073	3	4	133	1	0	0	0	0	1	0	0	0	15829	652	23	1	4973	1	TECTA	11	121031073	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	9234211	121031073	13975443	108	33148											
OR8G5	219865	broad.mit.edu	37	chr11	124135465	124135465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catccttgtccccagcctgaCcatcctcagctcttacatct	4	18	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:124135465C>T	ENST00000524943.2	+	1	743	c.743C>T	c.(742-744)aCc>aTc	p.T248I	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1			olfactory receptor, family 8, subfamily G, member 5														Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		CCCAGCCTGACCATCCTCAGC	0.448													False	0	False	11:124135465	0	T	124135465	C	T	124135465	3	4	133	1	0	0	0	0	1	0	0	0	11304	507	18	2	745	2	OR8G5	11	124135465	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3104392	124135465	10871051	109	33149											
ERC1	23085	broad.mit.edu	37	chr12	1221474	1221474	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggctgaggtctttgccGtaagatttacctctttgtgt	10	8	3	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:1221474G>A	ENST00000536573.2	+	4	332		c.e4+1		ERC1_ENST00000397203.2_Intron|ERC1_ENST00000360905.4_Intron|ERC1_ENST00000546231.2_Intron|ERC1_ENST00000355446.5_Intron|ERC1_ENST00000589028.1_Intron|ERC1_ENST00000543086.3_Intron			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1						I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGTCTTTGCCGTAAGATTTAC	0.502													False	0	False	12:1221474	0	A	1221474	G	A	1221474	5	1	133	1	0	0	0	0	0	0	1	0	5242	1160	40	1		1	ERC1	12	1221474	Splice_Site	SNP	G	TCGA-US-A776-01A-13D-A33T-08		1221474	132630421	110	33150											
RAD51AP1	10635	broad.mit.edu	37	chr12	4665646	4665646	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agtccttcagctgaaagcaaGaaacctaaatgggtcccacc	8	12	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:4665646G>C	ENST00000228843.9	+	9	950	c.900G>C	c.(898-900)aaG>aaC	p.K300N	RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.K283N|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.K165N|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000544927.1_Intron	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	300					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			CTGAAAGCAAGAAACCTAAAT	0.393													False	0	True	12:4665646	0	C	4665646	G	C	4665646	3	2	133	1	0	0	0	0	1	0	0	0	13065	933	33	5	934	5	RAD51AP1	12	4665646	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3444172	4665646	129186249	111	33151											
GNB3	2784	broad.mit.edu	37	chr12	6952186	6952186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgcggacgcggcggaCgttaaggggacacctggcca	16	12	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:6952186C>T	ENST00000229264.3	+	5	554	c.149C>T	c.(148-150)aCg>aTg	p.T50M	GNB3_ENST00000435982.2_Missense_Mutation_p.T50M	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	50					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ACGCGGCGGACGTTAAGGGGA	0.607													False	0	False	12:6952186	0	T	6952186	C	T	6952186	3	4	133	1	0	0	0	0	1	0	0	0	6564	536	19	1	159	1	GNB3	12	6952186	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2286540	6952186	126899709	112	33152											
LRRC23	10233	broad.mit.edu	37	chr12	7016602	7016602	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctaagctgaagaaccTctacctggtagctcactggg	9	12	3	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:7016602T>A	ENST00000007969.8	+	5	834	c.614T>A	c.(613-615)cTc>cAc	p.L205H	LRRC23_ENST00000323702.5_Missense_Mutation_p.L205H|LRRC23_ENST00000436789.1_Missense_Mutation_p.L205H|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000433346.1_Missense_Mutation_p.L205H|LRRC23_ENST00000443597.2_Missense_Mutation_p.L205H	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	205										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						CTGAAGAACCTCTACCTGGTA	0.562													False	0	False	12:7016602	0	A	7016602	T	A	7016602	3	1	133	1	0	0	0	0	1	0	0	0	9040	1551	54	5	628	5	LRRC23	12	7016602	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	64416	7016602	126835293	113	33153											
GYS2	2998	broad.mit.edu	37	chr12	21693480	21693480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagaatcatctggagaaCggaaccgcctgtcaacgatg	11	10	3	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:21693480C>T	ENST00000261195.2	-	14	1927	c.1673G>A	c.(1672-1674)cGt>cAt	p.R558H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	558					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCTGGAGAACGGAACCGCCT	0.418													False	0	False	12:21693480	0	T	21693480	C	T	21693480	3	4	133	1	0	0	0	0	1	0	0	0	6960	536	19	1	450	1	GYS2	12	21693480	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	14676878	21693480	112158415	114	33154											
LIN7A	8825	broad.mit.edu	37	chr12	81205274	81205274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttttgttgtgtttgttgCtgctgctgctgttgctgctg	14	6	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:81205274C>T	ENST00000552864.1	-	5	874	c.672G>A	c.(670-672)caG>caA	p.Q224Q		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	224	Poly-Gln.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GTGTTtgttgctgctgctgct	0.408													False	0	True	12:81205274	0	T	81205274	C	T	81205274	2	4	133	1	0	0	0	0	0	0	0	1	8863	796	28	2		2	LIN7A	12	81205274	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	59511794	81205274	52646621	115	33155											
ANO4	121601	broad.mit.edu	37	chr12	101336205	101336205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttactttcgagatggaaaGtgtcgaattgactacatcct	8	8	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:101336205G>A	ENST00000392979.3	+	4	604	c.243G>A	c.(241-243)aaG>aaA	p.K81K	ANO4_ENST00000392977.3_Silent_p.K116K|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Silent_p.K282K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	116						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAGATGGAAAGTGTCGAATTG	0.388										HNSCC(74;0.22)			False	0	True	12:101336205	0	A	101336205	G	A	101336205	2	1	133	1	0	0	0	0	0	0	0	1	699	1020	36	2		2	ANO4	12	101336205	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	20130931	101336205	32515690	116	33156											
RNF34	80196	broad.mit.edu	37	chr12	121867911	121867911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaaagaccaaaggaaaGtgtcggctcactcatccccc	8	13	3	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:121867911G>A	ENST00000392464.2	+	7	1207	c.1138G>A	c.(1138-1140)Gtg>Atg	p.V380M	KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000542973.1_3'UTR|KDM2B_ENST00000377071.4_3'UTR			Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	0					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		CCAAAGGAAAGTGTCGGCTCA	0.493													False	0	True	12:121867911	0	A	121867911	G	A	121867911	3	1	133	1	0	0	0	0	1	0	0	0	13568	1044	36	2		2	RNF34	12	121867911	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	20531706	121867911	11983984	117	33157											
KDM2B	84678	broad.mit.edu	37	chr12	121878657	121878657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggggacaggagatcccgcAtctgggcatcctttagtccc	13	13	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:121878657A>G	ENST00000377069.4	-	20	3771	c.3365T>C	c.(3364-3366)aTg>aCg	p.M1122T	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.M559T|KDM2B_ENST00000377071.4_Missense_Mutation_p.M1191T	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1191					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGATCCCGCATCTGGGCATC	0.632													False	0	False	12:121878657	0	G	121878657	A	G	121878657	3	3	133	1	0	0	0	0	1	0	0	0	8175	217	8	4	502	4	KDM2B	12	121878657	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	10746	121878657	11973238	118	33158											
TMEM120B	144404	broad.mit.edu	37	chr12	122213529	122213529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggtgttcgtactggcGttcaccttcctcatcctctt	7	16	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:122213529G>A	ENST00000540377.1	+	6	427	c.31G>A	c.(31-33)Gtt>Att	p.V11I	TMEM120B_ENST00000449592.2_Silent_p.A307A			A0PK00	T120B_HUMAN	transmembrane protein 120B	0						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCGTACTGGCGTTCACCTTCC	0.607													False	0	False	12:122213529	0	A	122213529	G	A	122213529	3	1	133	1	0	0	0	0	1	0	0	0	16116	1132	40	1	967	1	TMEM120B	12	122213529	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	334872	122213529	11638366	119	33159											
ATP12A	479	broad.mit.edu	37	chr13	25264838	25264838	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaagaacatctgcttcTattccacaacgtgtctggaa	6	10	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25264838T>A	ENST00000218548.6	+	7	1111	c.778T>A	c.(778-780)Tat>Aat	p.Y260N	ATP12A_ENST00000381946.3_Missense_Mutation_p.Y260N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	260					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CATCTGCTTCTATTCCACAAC	0.547													False	0	False	13:25264838	0	A	25264838	T	A	25264838	3	1	133	1	0	0	0	0	1	0	0	0	1126	1522	53	5	804	5	ATP12A	13	25264838	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08		25264838	89905040	120	33160											
ATP12A	479	broad.mit.edu	37	chr13	25272866	25272866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagggggcccctgagcGcatcctagagaaatgcagca	14	10	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25272866G>A	ENST00000218548.6	+	12	1934	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	ATP12A_ENST00000381946.3_Missense_Mutation_p.R528H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	528					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.R528H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCCCCTGAGCGCATCCTAGAG	0.572													False	0	False	13:25272866	0	A	25272866	G	A	25272866	3	1	133	1	0	0	0	0	1	0	0	0	1126	1087	38	1	1647	1	ATP12A	13	25272866	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	8028	25272866	89897012	121	33161											
CENPJ	55835	broad.mit.edu	37	chr13	25480968	25480968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcggaagtgctctggTtagtcactagtttactttct	10	9	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25480968T>C	ENST00000381884.4	-	7	1393	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S	CENPJ_ENST00000545981.1_Missense_Mutation_p.N403S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	403					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGTGCTCTGGTTAGTCACTAG	0.398													False	0	False	13:25480968	0	C	25480968	T	C	25480968	3	2	133	1	0	0	0	0	1	0	0	0	3257	1725	60	4	2852	4	CENPJ	13	25480968	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	208102	25480968	89688910	122	33162											
SALL2	6297	broad.mit.edu	37	chr14	21993764	21993764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacttggcacagacttggGggtgatcctcctcgctagca	12	12	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:21993764G>A	ENST00000327430.3	-	2	392	c.98C>T	c.(97-99)cCc>cTc	p.P33L	SALL2_ENST00000317492.5_Missense_Mutation_p.P33L|SALL2_ENST00000450879.2_Missense_Mutation_p.P31L|SALL2_ENST00000538754.1_Missense_Mutation_p.P31L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	33							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ACAGACTTGGGGGTGATCCTC	0.532													False	0	True	14:21993764	0	A	21993764	G	A	21993764	3	1	133	1	0	0	0	0	1	0	0	0	13890	1232	43	2	2929	2	SALL2	14	21993764	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		21993764	85355776	123	33163											
AKAP6	9472	broad.mit.edu	37	chr14	33147660	33147660	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaagttcattcagtgggaagCaatgggtagggaactattct	12	5	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:33147660C>G	ENST00000280979.4	+	8	3044	c.2874C>G	c.(2872-2874)agC>agG	p.S958R	AKAP6_ENST00000557272.1_Missense_Mutation_p.S958R|AKAP6_ENST00000557354.1_Missense_Mutation_p.S958R	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	958					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGTGGGAAGCAATGGGTAGG	0.403													False	0	False	14:33147660	0	G	33147660	C	G	33147660	3	3	133	1	0	0	0	0	1	0	0	0	455	709	25	5	2900	5	AKAP6	14	33147660	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	11153896	33147660	74201880	124	33164											
FAM179B	23116	broad.mit.edu	37	chr14	45432083	45432083	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtagtgatgagaagcgGctctgcttgcaacttctctc	13	9	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:45432083G>T	ENST00000361462.2	+	1	642	c.459G>T	c.(457-459)cgG>cgT	p.R153R	FAM179B_ENST00000382233.2_Silent_p.R153R|FAM179B_ENST00000361577.3_Silent_p.R153R			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	153							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATGAGAAGCGGCTCTGCTTGC	0.597													False	0	False	14:45432083	0	T	45432083	G	T	45432083	2	4	133	1	0	0	0	0	0	0	0	1	5542	1190	42	3		3	FAM179B	14	45432083	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	12284423	45432083	61917457	125	33165											
RGS6	9628	broad.mit.edu	37	chr14	72939637	72939637	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatagtcaagaacgagcCttttgggatgtccacaggcc	12	9	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:72939637C>T	ENST00000553530.1	+	9	801	c.594C>T	c.(592-594)gcC>gcT	p.A198A	RGS6_ENST00000434263.2_Silent_p.A129A|RGS6_ENST00000343854.6_Silent_p.A198A|RGS6_ENST00000555571.1_Silent_p.A198A|RGS6_ENST00000407322.4_Silent_p.A198A|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000355512.6_Silent_p.A198A|RGS6_ENST00000404301.2_Silent_p.A198A|RGS6_ENST00000554782.1_Silent_p.A59A|RGS6_ENST00000556437.1_Silent_p.A198A|RGS6_ENST00000406236.4_Silent_p.A198A|RGS6_ENST00000402788.2_Silent_p.A198A|RGS6_ENST00000553525.1_Silent_p.A198A	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	198					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AAGAACGAGCCTTTTGGGATG	0.368													False	0	True	14:72939637	0	T	72939637	C	T	72939637	2	4	133	1	0	0	0	0	0	0	0	1	13388	668	24	2		2	RGS6	14	72939637	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	27507554	72939637	34409903	126	33166											
MLH3	27030	broad.mit.edu	37	chr14	75513333	75513333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacctgtggcatcttctAccggattcattaacattcca	7	12	4	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:75513333A>G	ENST00000355774.2	-	2	3241	c.3026T>C	c.(3025-3027)gTa>gCa	p.V1009A	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.V1009A|MLH3_ENST00000238662.7_Missense_Mutation_p.V1009A|MLH3_ENST00000556740.1_Missense_Mutation_p.V1009A|MLH3_ENST00000544985.1_Missense_Mutation_p.V4A	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1009					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGCATCTTCTACCGGATTCAT	0.398								Mismatch excision repair (MMR)					False	0	False	14:75513333	0	G	75513333	A	G	75513333	3	3	133	1	0	0	0	0	1	0	0	0	9685	391	14	4	1383	4	MLH3	14	75513333	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	2573696	75513333	31836207	127	33167											
ADSSL1	122622	broad.mit.edu	37	chr14	105207231	105207231	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccaccctggaaatagacAttgaaggccaactcaaaagg	8	12	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:105207231A>G	ENST00000332972.5	+	7	928	c.769A>G	c.(769-771)Att>Gtt	p.I257V	ADSSL1_ENST00000330877.2_Missense_Mutation_p.I214V	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	214					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GGAAATAGACATTGAAGGCCA	0.582													False	0	False	14:105207231	0	G	105207231	A	G	105207231	3	3	133	1	0	0	0	0	1	0	0	0	348	217	8	4	991	4	ADSSL1	14	105207231	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	29693898	105207231	2142309	128	33168											
PLD4	122618	broad.mit.edu	37	chr14	105396428	105396428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgccaacatggactggCggtctctgacgcaggtgagt	15	10	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:105396428C>T	ENST00000540372.1	+	6	916	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	PLD4_ENST00000392593.4_Missense_Mutation_p.R235W			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	235					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CATGGACTGGCGGTCTCTGAC	0.607													False	0	False	14:105396428	0	T	105396428	C	T	105396428	3	4	133	1	0	0	0	0	1	0	0	0	12117	759	27	1	721	1	PLD4	14	105396428	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	189197	105396428	1953112	129	33169											
CKMT1B	1159	broad.mit.edu	37	chr15	43888718	43888718	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgaaagattctgccgaGgcctcaaagaggttagagaa	12	6	2	4			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:43888718G>C	ENST00000300283.6	+	7	1257	c.865G>C	c.(865-867)Ggc>Cgc	p.G289R	CKMT1B_ENST00000450086.2_Missense_Mutation_p.G248R|CKMT1B_ENST00000413657.2_Missense_Mutation_p.G152R|CKMT1B_ENST00000441322.1_Missense_Mutation_p.G289R	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	289	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	ATTCTGCCGAGGCCTCAAAGA	0.443													False	0	False	15:43888718	0	C	43888718	G	C	43888718	3	2	133	1	0	0	0	0	1	0	0	0	3473	1000	35	5	887	5	CKMT1B	15	43888718	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		43888718	58642674	130	33170											
MYO5A	4644	broad.mit.edu	37	chr15	52667657	52667657	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcagaaacttagcataGctggccaaagaaaataacat	8	9	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:52667657G>A	ENST00000399231.3	-	20	2664	c.2421C>T	c.(2419-2421)tgC>tgT	p.C807C	MYO5A_ENST00000399233.2_Splice_Site_p.C807C|MYO5A_ENST00000356338.6_Splice_Site_p.C807C|MYO5A_ENST00000553916.1_Splice_Site_p.C807C|MYO5A_ENST00000358212.6_Splice_Site_p.C807C	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	807	IQ 2.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACTTAGCATAGCTGGCCAAAG	0.398													False	0	False	15:52667657	0	A	52667657	G	A	52667657	5	1	133	1	0	0	0	0	0	0	1	0	10145	985	34	2	3234	2	MYO5A	15	52667657	Splice_Site	SNP	G	TCGA-US-A776-01A-13D-A33T-08	8778939	52667657	49863735	131	33171											
MYO5A	4644	broad.mit.edu	37	chr15	52676446	52676446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttcgtgtgaggggtgtgCgccctgaggaggtggctgaa	20	6	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:52676446C>T	ENST00000399231.3	-	15	2069	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	MYO5A_ENST00000399233.2_Missense_Mutation_p.R609H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R609H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R609H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R609H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	609	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R609H(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GAGGGGTGTGCGCCCTGAGGA	0.483													False	0	False	15:52676446	0	T	52676446	C	T	52676446	3	4	133	1	0	0	0	0	1	0	0	0	10145	768	27	1	3849	1	MYO5A	15	52676446	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	8789	52676446	49854946	132	33172											
SLTM	79811	broad.mit.edu	37	chr15	59179218	59179218	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgactcctctgtctccctCtctgctcccgtaccccgaag	7	18	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:59179218C>T	ENST00000380516.2	-	19	2878	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	SLTM_ENST00000536328.1_Missense_Mutation_p.E500K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	931					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTCTCCCTCTCTGCTCCCG	0.572													False	0	True	15:59179218	0	T	59179218	C	T	59179218	3	4	133	1	0	0	0	0	1	0	0	0	14834	922	32	2	325	2	SLTM	15	59179218	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	6502772	59179218	43352174	133	33173											
HCN4	10021	broad.mit.edu	37	chr15	73635767	73635767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaatgaggcgggagaggcGtaacaggcgtaagaggctga	18	6	0	4			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:73635767G>A	ENST00000261917.3	-	2	2161	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	390					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.R390C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGGGAGAGGCGTAACAGGCGT	0.572													False	0	False	15:73635767	0	A	73635767	G	A	73635767	3	1	133	1	0	0	0	0	1	0	0	0	7046	1145	40	1	2471	1	HCN4	15	73635767	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	14456549	73635767	28895625	134	33174											
IMP3	55272	broad.mit.edu	37	chr15	75932242	75932242	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcgaaccgcgcgtggGcaccaagccgagagcataca	12	15	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:75932242G>C	ENST00000314852.2	-	2	1211	c.268C>G	c.(268-270)Ccc>Gcc	p.P90A	IMP3_ENST00000403490.1_Missense_Mutation_p.P90A			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	90					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						CCGCGCGTGGGCACCAAGCCG	0.711													False	0	True	15:75932242	0	C	75932242	G	C	75932242	3	2	133	1	0	0	0	0	1	0	0	0	7769	1203	42	5	290	5	IMP3	15	75932242	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2296475	75932242	26599150	135	33175											
TPSD1	23430	broad.mit.edu	37	chr16	1306591	1306591	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcaagtggccctggcagGtgagcctgagagtccgcggc	18	11	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:1306591G>T	ENST00000211076.3	+	2	305	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	TPSD1_ENST00000397534.2_Missense_Mutation_p.V46L	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	53	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCCCTGGCAGGTGAGCCTGAG	0.692													False	0	False	16:1306591	0	T	1306591	G	T	1306591	3	4	133	1	0	0	0	0	1	0	0	0	16508	1261	44	3	163	3	TPSD1	16	1306591	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		1306591	89048162	136	33176											
ZC3H7A	29066	broad.mit.edu	37	chr16	11855848	11855848	+	Frame_Shift_Del	DEL	C	C	-													tctcagacactgggcgcacaCaaactttatcttcatattaa							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:11855848delC	ENST00000396516.2	-	17	2328	c.2131delG	c.(2131-2133)gtgfs	p.V711fs	ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.V711fs			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	711						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TGGGCGCACACAAACTTTATC	0.333													False	1	True	16:11855848	0	-	11855848	C	-	11855848	7	5	133	1	0	1	0	1	0	0	0	0	17655	478	17	0	808	0	ZC3H7A	16	11855848	Frame_Shift_Del	DEL	C	TCGA-US-A776-01A-13D-A33T-08	10549257	11855848	78498905	137	33177											
GDPD3	79153	broad.mit.edu	37	chr16	30124708	30124708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggtgggagccctgggcGtgtgcagcagatgaggccgg	21	8	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:30124708G>A	ENST00000406256.3	-	1	469	c.92C>T	c.(91-93)aCg>aTg	p.T31M		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	31					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AGCCCTGGGCGTGTGCAGCAG	0.632													False	0	False	16:30124708	0	A	30124708	G	A	30124708	3	1	133	1	0	0	0	0	1	0	0	0	6370	1145	40	1	904	1	GDPD3	16	30124708	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	18268860	30124708	60230045	138	33178											
CNOT1	23019	broad.mit.edu	37	chr16	58562472	58562472	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggatacaattaggtgggatCacatcacagaacccataatg	9	8	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:58562472C>T	ENST00000317147.5	-	44	6692	c.6360G>A	c.(6358-6360)gtG>gtA	p.V2120V	CNOT1_ENST00000569240.1_Silent_p.V2115V|CNOT1_ENST00000245138.4_Silent_p.V971V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2120					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGGTGGGATCACATCACAGA	0.403													False	0	True	16:58562472	0	T	58562472	C	T	58562472	2	4	133	1	0	0	0	0	0	0	0	1	3640	813	29	2		2	CNOT1	16	58562472	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	28437764	58562472	31792281	139	33179											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67859904	67859904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgagcacgctgaaggaaCgggaccaattcttctctgag	11	10	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:67859904C>T	ENST00000388833.3	+	9	1284	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R357W|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.R288W	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	303					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GCTGAAGGAACGGGACCAATT	0.612													False	0	True	16:67859904	0	T	67859904	C	T	67859904	3	4	133	1	0	0	0	0	1	0	0	0	16715	527	19	1	933	1	TSNAXIP1	16	67859904	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	9297432	67859904	22494849	140	33180											
TRPV3	162514	broad.mit.edu	37	chr17	3432261	3432261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcagcagcgtgtgcagcGgctccagggtcagcatctca	13	12	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:3432261G>A	ENST00000301365.4	-	10	1402	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L	TRPV3_ENST00000572519.1_Missense_Mutation_p.P424L|TRPV3_ENST00000576742.1_Missense_Mutation_p.P424L			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	424						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CGTGTGCAGCGGCTCCAGGGT	0.522													False	0	False	17:3432261	0	A	3432261	G	A	3432261	3	1	133	1	0	0	0	0	1	0	0	0	16680	1116	39	1	1137	1	TRPV3	17	3432261	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		3432261	77762949	141	33181											
MYH1	4619	broad.mit.edu	37	chr17	10416957	10416957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacatgtttcaatatcaGcagaagccagtttccctgtg	7	11	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:10416957G>A	ENST00000226207.5	-	9	885	c.791C>T	c.(790-792)gCt>gTt	p.A264V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	264	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCAATATCAGCAGAAGCCAG	0.408													False	0	False	17:10416957	0	A	10416957	G	A	10416957	3	1	133	1	0	0	0	0	1	0	0	0	10096	971	34	2	5156	2	MYH1	17	10416957	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	6984696	10416957	70778253	142	33182											
KCNH4	23415	broad.mit.edu	37	chr17	40321553	40321553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaagtattcgagcatgCgctgcttgagcggccgcggc	15	11	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:40321553C>T	ENST00000264661.3	-	9	1864	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R511H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	511					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCGAGCATGCGCTGCTTGAG	0.637													False	0	False	17:40321553	0	T	40321553	C	T	40321553	3	4	133	1	0	0	0	0	1	0	0	0	8084	768	27	1	1553	1	KCNH4	17	40321553	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	29904596	40321553	40873657	143	33183											
BECN1	8678	broad.mit.edu	37	chr17	40970815	40970815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgacttgccttcagtcttCggctgaggttctccatggtg	12	12	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:40970815C>T	ENST00000361523.4	-	5	473	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Missense_Mutation_p.R114Q	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	114					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTTCAGTCTTCGGCTGAGGTT	0.607													False	0	False	17:40970815	0	T	40970815	C	T	40970815	3	4	133	1	0	0	0	0	1	0	0	0	1400	884	31	1	1043	1	BECN1	17	40970815	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	649262	40970815	40224395	144	33184											
MPP2	4355	broad.mit.edu	37	chr17	41955246	41955246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggctgtctggagctcgcGgaaggtcctctccaggttgc	14	12	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:41955246G>A	ENST00000269095.4	-	13	1892	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	MPP2_ENST00000461854.1_Missense_Mutation_p.R554C|MPP2_ENST00000520305.1_Missense_Mutation_p.R391C|MPP2_ENST00000377184.3_Missense_Mutation_p.R547C|MPP2_ENST00000536246.1_Missense_Mutation_p.R519C|MPP2_ENST00000523501.1_Missense_Mutation_p.R519C|MPP2_ENST00000518766.1_Missense_Mutation_p.R575C	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	554	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGGAGCTCGCGGAAGGTCCTC	0.607													False	0	False	17:41955246	0	A	41955246	G	A	41955246	3	1	133	1	0	0	0	0	1	0	0	0	9801	1116	39	1	74	1	MPP2	17	41955246	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	984431	41955246	39239964	145	33185											
TBKBP1	9755	broad.mit.edu	37	chr17	45776015	45776015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtttggagcagcagctgCggcaacagcaaggcctccag	15	11	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:45776015C>T	ENST00000361722.3	+	4	1357	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	170					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GCAGCAGCTGCGGCAACAGCA	0.637											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	17:45776015	0	T	45776015	C	T	45776015	3	4	133	1	0	0	0	0	1	0	0	0	15720	759	27	1	522	1	TBKBP1	17	45776015	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3820769	45776015	35419195	146	33186											
PPP1R9B	84687	broad.mit.edu	37	chr17	48212935	48212935	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caccttgtccaggagcttgtCcatctcctcctttctggcca	7	16	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:48212935C>G	ENST00000316878.6	-	11	2379	c.2377G>C	c.(2377-2379)Gac>Cac	p.D793H	PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	793	Interacts with TGN38 (By similarity).				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						AGGAGCTTGTCCATCTCCTCC	0.642													False	0	False	17:48212935	0	G	48212935	C	G	48212935	3	3	133	1	0	0	0	0	1	0	0	0	12453	855	30	5	78	5	PPP1R9B	17	48212935	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2436920	48212935	32982275	147	33187											
ZACN	353174	broad.mit.edu	37	chr17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctccgggccattgagcGcataggctacaaggtgacat	12	13	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622													False	0	False	17:74077738	0	A	74077738	G	A	74077738	3	1	133	1	0	0	0	0	1	0	0	0	17594	1087	38	1	808	1	ZACN	17	74077738	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	25864803	74077738	7117472	148	33188											
SMCHD1	23347	broad.mit.edu	37	chr18	2722606	2722606	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccctctggagtttcaggatGaatttggtcataccagtcaa	9	9	4	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:2722606G>A	ENST00000320876.6	+	20	2886	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.E850K	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	850					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTTTCAGGATGAATTTGGTCA	0.358													False	0	False	18:2722606	0	A	2722606	G	A	2722606	3	1	133	1	0	0	0	0	1	0	0	0	14868	1291	45	2	2626	2	SMCHD1	18	2722606	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		2722606	75354642	149	33189											
ANKRD12	23253	broad.mit.edu	37	chr18	9279616	9279616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtcttggttacaagatGtggatgataaatttgacaaa	9	4	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:9279616G>A	ENST00000262126.4	+	12	6217	c.5977G>A	c.(5977-5979)Gtg>Atg	p.V1993M	ANKRD12_ENST00000383440.2_Missense_Mutation_p.V1970M|ANKRD12_ENST00000400020.3_Missense_Mutation_p.V1970M	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTTACAAGATGTGGATGATAA	0.313													False	0	False	18:9279616	0	A	9279616	G	A	9279616	3	1	133	1	0	0	0	0	1	0	0	0	640	1377	48	2	6019	2	ANKRD12	18	9279616	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	6557010	9279616	68797632	150	33190											
HMHA1	23526	broad.mit.edu	37	chr19	1068622	1068622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgacagccgccagcccGggcgagctgcccaccgaggg	14	18	0	1	rs148289980	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:1068622G>A	ENST00000313093.2	+	2	531	c.300G>A	c.(298-300)ccG>ccA	p.P100P	HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000539243.2_Silent_p.P116P|HMHA1_ENST00000590214.1_Silent_p.P127P|HMHA1_ENST00000586866.1_Silent_p.P104P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	100					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCAGCCCGGGCGAGCTGC	0.721													False	0	True	19:1068622	0	A	1068622	G	A	1068622	2	1	133	1	0	0	0	0	0	0	0	1	7287	1103	39	1		1	HMHA1	19	1068622	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08		1068622	58060361	151	33191											
NCLN	56926	broad.mit.edu	37	chr19	3207651	3207651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctcctctacaagaccGtccagaggctgctcgtgaag	10	14	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:3207651G>A	ENST00000246117.4	+	15	2088	c.1657G>A	c.(1657-1659)Gtc>Atc	p.V553I	NCLN_ENST00000590671.1_Missense_Mutation_p.V479I|NCLN_ENST00000591062.1_3'UTR	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	553					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACAAGACCGTCCAGAGGCT	0.657													False	0	False	19:3207651	0	A	3207651	G	A	3207651	3	1	133	1	0	0	0	0	1	0	0	0	10295	1145	40	1	1715	1	NCLN	19	3207651	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2139029	3207651	55921332	152	33192											
TM6SF2	53345	broad.mit.edu	37	chr19	19381000	19381000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctgcagatggcgccgGccatggccaggtagaggagg	16	11	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:19381000G>A	ENST00000389363.4	-	4	455	c.383C>T	c.(382-384)gCc>gTc	p.A128V	TM6SF2_ENST00000586107.1_5'UTR|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	128						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GATGGCGCCGGCCATGGCCAG	0.642													False	0	False	19:19381000	0	A	19381000	G	A	19381000	3	1	133	1	0	0	0	0	1	0	0	0	16055	1203	42	2	778	2	TM6SF2	19	19381000	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	16173349	19381000	39747983	153	33193											
RYR1	6261	broad.mit.edu	37	chr19	38966037	38966037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccgactccctcacgacGtggtgcctgcagacaaccgc	10	18	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:38966037G>A	ENST00000355481.4	+	29	4371	c.4240G>A	c.(4240-4242)Gtg>Atg	p.V1414M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1414M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1414M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1414	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTCACGACGTGGTGCCTGC	0.612													False	0	False	19:38966037	0	A	38966037	G	A	38966037	3	1	133	1	0	0	0	0	1	0	0	0	13847	1145	40	1	4354	1	RYR1	19	38966037	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	19585037	38966037	20162946	154	33194											
ATP5SL	55101	broad.mit.edu	37	chr19	41944258	41944258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctctggggccactgccGcacccaggcgatggatgccc	13	17	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:41944258G>A	ENST00000221943.9	-	2	85	c.80C>T	c.(79-81)gCg>gTg	p.A27V	ATP5SL_ENST00000301183.11_Missense_Mutation_p.A33V|ATP5SL_ENST00000417807.3_Missense_Mutation_p.A33V|ATP5SL_ENST00000589970.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000590641.2_Missense_Mutation_p.A33V|ATP5SL_ENST00000595425.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000597457.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000592922.2_Missense_Mutation_p.A27V|ATP5SL_ENST00000438807.3_Missense_Mutation_p.A27V	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	27										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GGCCACTGCCGCACCCAGGCG	0.587													False	0	False	19:41944258	0	A	41944258	G	A	41944258	3	1	133	1	0	0	0	0	1	0	0	0	1168	1087	38	1	713	1	ATP5SL	19	41944258	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2978221	41944258	17184725	155	33195											
TEX101	83639	broad.mit.edu	37	chr19	43922332	43922332	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttctataggtggcattgagtCgtctgtggaggtcaaaggct	14	6	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:43922332C>A	ENST00000602198.1	+	8	1029	c.587C>A	c.(586-588)tCg>tAg	p.S196*	TEX101_ENST00000598265.1_Nonsense_Mutation_p.S178*|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Nonsense_Mutation_p.S196*	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	178						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GGCATTGAGTCGTCTGTGGAG	0.522													False	0	False	19:43922332	0	A	43922332	C	A	43922332	4	1	133	1	0	0	0	0	0	1	0	0	15855	893	31	3	609	3	TEX101	19	43922332	Nonsense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1978074	43922332	15206651	156	33196											
ZNF180	7733	broad.mit.edu	37	chr19	44981580	44981580	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctcccctgtgtgagttCtctgatgtgcaacaagatgc	10	10	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:44981580C>A	ENST00000221327.4	-	5	1399	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	ZNF180_ENST00000592529.1_Missense_Mutation_p.R346I|ZNF180_ENST00000391956.4_Missense_Mutation_p.R348I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R373I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGTGTGAGTTCTCTGATGTGC	0.433													False	0	False	19:44981580	0	A	44981580	C	A	44981580	3	1	133	1	0	0	0	0	1	0	0	0	17831	913	32	3	964	3	ZNF180	19	44981580	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1059248	44981580	14147403	157	33197											
CYTH2	9266	broad.mit.edu	37	chr19	48981402	48981402	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactactttgagtacaccacGgtgagcgtgacccgacccgg	11	13	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:48981402G>A	ENST00000427476.1	+	9	1188	c.888G>A	c.(886-888)acG>acA	p.T296T	CYTH2_ENST00000452733.2_Splice_Site_p.T295T	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	296	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGTACACCACGGTGAGCGTGA	0.652													False	0	False	19:48981402	0	A	48981402	G	A	48981402	5	1	133	1	0	0	0	0	0	0	1	0	4229	1130	39	1	922	1	CYTH2	19	48981402	Splice_Site	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3999822	48981402	10147581	158	33198											
LRRC4B	94030	broad.mit.edu	37	chr19	51021944	51021944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccccttgaggccggcgggCgcatgacagcgggcgcagca	17	15	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51021944C>T	ENST00000599957.1	-	3	1223	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	LRRC4B_ENST00000389201.3_Silent_p.A342A			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	342	LRRCT.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGCCGGCGGGCGCATGACAGC	0.652													False	0	True	19:51021944	0	T	51021944	C	T	51021944	2	4	133	1	0	0	0	0	0	0	0	1	9069	755	27	1		1	LRRC4B	19	51021944	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2040542	51021944	8107039	159	33199											
SYT3	84258	broad.mit.edu	37	chr19	51135733	51135733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatacgagtccatgtccaAgtaggagggctcaggggtgt	16	7	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51135733A>C	ENST00000338916.4	-	2	1117	c.484T>G	c.(484-486)Ttg>Gtg	p.L162V	SYT3_ENST00000544769.1_Missense_Mutation_p.L162V|SYT3_ENST00000600079.1_Missense_Mutation_p.L162V|SYT3_ENST00000593901.1_Missense_Mutation_p.L162V	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	162						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCCATGTCCAAGTAGGAGGGC	0.657													False	0	False	19:51135733	0	C	51135733	A	C	51135733	3	2	133	1	0	0	0	0	1	0	0	0	15557	69	3	4	1316	4	SYT3	19	51135733	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	113789	51135733	7993250	160	33200											
SYT3	84258	broad.mit.edu	37	chr19	51135878	51135878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccgccaggtggtgcccGcctccgcctaccaggcctgc	12	20	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51135878G>A	ENST00000338916.4	-	2	972	c.339C>T	c.(337-339)ggC>ggT	p.G113G	SYT3_ENST00000544769.1_Silent_p.G113G|SYT3_ENST00000600079.1_Silent_p.G113G|SYT3_ENST00000593901.1_Silent_p.G113G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	113						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGTGGTGCCCGCCTCCGCCTA	0.726													False	0	True	19:51135878	0	A	51135878	G	A	51135878	2	1	133	1	0	0	0	0	0	0	0	1	15557	1074	38	1		1	SYT3	19	51135878	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	145	51135878	7993105	161	33201											
NLRP8	126205	broad.mit.edu	37	chr19	56467042	56467042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccacgtgaatatccagCgcctgatagcgagtcccaga	11	12	0	4			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:56467042C>T	ENST00000291971.3	+	3	1689	c.1618C>T	c.(1618-1620)Cgc>Tgc	p.R540C	NLRP8_ENST00000590542.1_Missense_Mutation_p.R540C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	540						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAATATCCAGCGCCTGATAGC	0.463													False	0	False	19:56467042	0	T	56467042	C	T	56467042	3	4	133	1	0	0	0	0	1	0	0	0	10551	768	27	1	1628	1	NLRP8	19	56467042	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	5331164	56467042	2661941	162	33202											
FASTKD5	60493	broad.mit.edu	37	chr20	3128950	3128950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaaacctaggtactttgCggcctaagtacctccagaga	8	10	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3128950C>T	ENST00000380266.3	-	2	1088	c.767G>A	c.(766-768)cGc>cAc	p.R256H	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	256			R -> C (in dbSNP:rs3746700).		apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGGTACTTTGCGGCCTAAGTA	0.393													False	0	False	20:3128950	0	T	3128950	C	T	3128950	3	4	133	1	0	0	0	0	1	0	0	0	5728	768	27	1	1531	1	FASTKD5	20	3128950	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		3128950	59896570	163	33203											
SLC4A11	83959	broad.mit.edu	37	chr20	3214843	3214843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcggcgaagcatggtccGcagcacgttatccagggagg	16	10	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3214843G>A	ENST00000380059.3	-	5	639	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	SLC4A11_ENST00000539553.2_Missense_Mutation_p.R137W|SLC4A11_ENST00000380056.3_Missense_Mutation_p.R153W	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	153					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGCATGGTCCGCAGCACGTTA	0.627													False	0	False	20:3214843	0	A	3214843	G	A	3214843	3	1	133	1	0	0	0	0	1	0	0	0	14732	1086	38	1	2282	1	SLC4A11	20	3214843	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	85893	3214843	59810677	164	33204											
SIGLEC1	6614	broad.mit.edu	37	chr20	3682127	3682127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagaggtaccactgaagcGtgggctgtgatcactgtccc	12	12	1	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3682127G>A	ENST00000344754.4	-	6	1389	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R464C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	464	Ig-like C2-type 4.		R -> H (in dbSNP:rs34924243).		cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCACTGAAGCGTGGGCTGTGA	0.607													False	0	False	20:3682127	0	A	3682127	G	A	3682127	3	1	133	1	0	0	0	0	1	0	0	0	14386	1145	40	1	3803	1	SIGLEC1	20	3682127	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	467284	3682127	59343393	165	33205											
GNAS	2778	broad.mit.edu	37	chr20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggacctgcttcgctgcCgtgtcctgacttctggaatc	10	13	2	1	rs11554273		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:57484420C>T	ENST00000371100.4	+	8	3082	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			False	0	False	20:57484420	0	T	57484420	C	T	57484420	3	4	133	1	0	0	0	0	1	0	0	0	6555	652	23	1	3448	1	GNAS	20	57484420	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	53802293	57484420	5541100	166	33206											
ZNF831	128611	broad.mit.edu	37	chr20	57766735	57766735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggaaggggacaaggccGgagagccccccagaccagag	17	11	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:57766735G>A	ENST00000371030.2	+	1	661	c.661G>A	c.(661-663)Gga>Aga	p.G221R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	221						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGACAAGGCCGGAGAGCCCCC	0.701													False	0	False	20:57766735	0	A	57766735	G	A	57766735	3	1	133	1	0	0	0	0	1	0	0	0	18267	1117	39	1	663	1	ZNF831	20	57766735	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	282315	57766735	5258785	167	33207											
LAMA5	3911	broad.mit.edu	37	chr20	60891034	60891034	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagcatggcctgcgccgCctggatgtgcgcctccagct	14	15	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:60891034C>A	ENST00000252999.3	-	58	7903	c.7837G>T	c.(7837-7839)Gcg>Tcg	p.A2613S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2613	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTGCGCCGCCTGGATGTGC	0.692													False	0	False	20:60891034	0	A	60891034	C	A	60891034	3	1	133	1	0	0	0	0	1	0	0	0	8660	739	26	3	3342	3	LAMA5	20	60891034	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3124299	60891034	2134486	168	33208											
TMPRSS15	5651	broad.mit.edu	37	chr21	19715919	19715919	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actgtcttctccatattttgGtcattgctgatattaatgct	6	8	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:19715919G>C	ENST00000284885.3	-	12	1365	c.1332C>G	c.(1330-1332)gaC>gaG	p.D444E		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	444	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCATATTTTGGTCATTGCTGA	0.308													False	0	False	21:19715919	0	C	19715919	G	C	19715919	3	2	133	1	0	0	0	0	1	0	0	0	16328	1252	44	5	1783	5	TMPRSS15	21	19715919	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		19715919	28413976	169	33209											
UMODL1	89766	broad.mit.edu	37	chr21	43529716	43529716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaacacgactgctcaccgGctgcctggtgcatcaacctg	11	15	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:43529716G>A	ENST00000400424.2	+	10	1744	c.1348G>A	c.(1348-1350)Gct>Act	p.A450T	UMODL1_ENST00000400427.1_Missense_Mutation_p.A450T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A522T|UMODL1_ENST00000408910.2_Missense_Mutation_p.A522T	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGCTCACCGGCTGCCTGGTG	0.627													False	0	False	21:43529716	0	A	43529716	G	A	43529716	3	1	133	1	0	0	0	0	1	0	0	0	17064	1203	42	2	1602	2	UMODL1	21	43529716	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	23813797	43529716	4600179	170	33210											
PFKL	5211	broad.mit.edu	37	chr21	45732983	45732983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacggactcggccctccacCgcatcatggaggtcatcgat	11	15	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:45732983C>T	ENST00000403390.1	+	6	691	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	PFKL_ENST00000349048.4_Missense_Mutation_p.R184C|PFKL_ENST00000496824.1_3'UTR			P17858	K6PL_HUMAN	phosphofructokinase, liver	184					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGCCCTCCACCGCATCATGGA	0.672													False	0	False	21:45732983	0	T	45732983	C	T	45732983	3	4	133	1	0	0	0	0	1	0	0	0	11833	652	23	1	568	1	PFKL	21	45732983	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2203267	45732983	2396912	171	33211											
PCBP3	54039	broad.mit.edu	37	chr21	47360016	47360016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgtctggagctcagatcAaaatcgccaacgccacggaa	10	11	3	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:47360016A>C	ENST00000400314.1	+	15	1320	c.982A>C	c.(982-984)Aaa>Caa	p.K328Q	PCBP3_ENST00000400308.1_Missense_Mutation_p.K302Q|PCBP3_ENST00000400304.1_Missense_Mutation_p.K318Q|PCBP3_ENST00000400310.1_Missense_Mutation_p.K308Q|PCBP3_ENST00000449640.1_Missense_Mutation_p.K328Q|PCBP3_ENST00000400309.1_Missense_Mutation_p.K327Q			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	328	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AGCTCAGATCAAAATCGCCAA	0.522													False	0	True	21:47360016	0	C	47360016	A	C	47360016	3	2	133	1	0	0	0	0	1	0	0	0	11570	131	5	4	1032	4	PCBP3	21	47360016	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	1627033	47360016	769879	172	33212											
CLTCL1	8218	broad.mit.edu	37	chr22	19196594	19196594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcaaactcatatgcccGgtccaggtttccaatgtgct	8	14	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:19196594G>A	ENST00000263200.10	-	21	3352	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1094W|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1094W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1094	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCATATGCCCGGTCCAGGTTT	0.498			T	?	ALCL								False	0	True	22:19196594	0	A	19196594	G	A	19196594	3	1	133	1	0	0	0	0	1	0	0	0	3590	1115	39	1	1690	1	CLTCL1	22	19196594	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		19196594	32107972	173	33213											
AIFM3	150209	broad.mit.edu	37	chr22	21332002	21332002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcaggtgcagtgcccgcCacaggcttcctgaggcaaag	13	13	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:21332002C>T	ENST00000399167.2	+	15	1536	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A	AIFM3_ENST00000440238.2_Silent_p.A432A|AIFM3_ENST00000399163.2_Silent_p.A432A|AIFM3_ENST00000335375.5_Silent_p.A420A|AIFM3_ENST00000405089.1_Silent_p.A438A|AIFM3_ENST00000333607.6_Silent_p.A432A|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAGTGCCCGCCACAGGCTTCC	0.622													False	0	False	22:21332002	0	T	21332002	C	T	21332002	2	4	133	1	0	0	0	0	0	0	0	1	428	581	21	2		2	AIFM3	22	21332002	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2135408	21332002	29972564	174	33214											
GGT1	2678	broad.mit.edu	37	chr22	25016461	25016461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctggaaaacaagcggacCgtcatcgagcagcagcctgt	12	13	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:25016461C>T	ENST00000400382.1	+	8	1304	c.549C>T	c.(547-549)acC>acT	p.T183T	GGT1_ENST00000400380.1_Silent_p.T183T|GGT1_ENST00000248923.4_Silent_p.T183T|GGT1_ENST00000406383.2_Silent_p.T183T|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Silent_p.T183T			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	183					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACAAGCGGACCGTCATCGAGC	0.677													False	0	False	22:25016461	0	T	25016461	C	T	25016461	2	4	133	1	0	0	0	0	0	0	0	1	6406	639	23	1		1	GGT1	22	25016461	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3684459	25016461	26288105	175	33215											
DEPDC5	9681	broad.mit.edu	37	chr22	32229984	32229984	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtaagagggggcagctgActggggaaaggggtagacag	19	5	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:32229984A>G	ENST00000536766.1	+	22	2041	c.1870A>G	c.(1870-1872)Act>Gct	p.T624A	DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000400248.2_Intron|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000535622.1_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGGGCAGCTGACTGGGGAAAG	0.502													False	0	False	22:32229984	0	G	32229984	A	G	32229984	3	3	133	1	0	0	0	0	1	0	0	0	4472	290	10	4		4	DEPDC5	22	32229984	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	7213523	32229984	19074582	176	33216											
IL3RA	3563	broad.mit.edu	37	chrX	1471384	1471384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacagataagtttgtcGtcttttcacagattggtgag	10	8	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:1471384G>A	ENST00000331035.4	+	6	950	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	IL3RA_ENST00000381469.2_Missense_Mutation_p.V123I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	201						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TAAGTTTGTCGTCTTTTCACA	0.582													False	0	False	X:1471384	0	A	1471384	G	A	1471384	3	1	133	1	0	0	0	0	1	0	0	0	7745	1145	40	1	619	1	IL3RA	23	1471384	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		1471384	153799176	177	33217											
WWC3	55841	broad.mit.edu	37	chrX	10090710	10090710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggagaggagggcacgccGcatctccgcatgtctgtcgg	16	11	2	1	rs139403054	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:10090710G>A	ENST00000380861.4	+	12	2073	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	WWC3_ENST00000454666.1_Missense_Mutation_p.R561H	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	561										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGGGCACGCCGCATCTCCGCA	0.522													False	0	False	X:10090710	0	A	10090710	G	A	10090710	3	1	133	1	0	0	0	0	1	0	0	0	17497	1087	38	1	1724	1	WWC3	23	10090710	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	8619326	10090710	145179850	178	33218											
WWC3	55841	broad.mit.edu	37	chrX	10094325	10094325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtgtgttcagtgactccGcagctgcaggaagaactgct	12	10	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:10094325G>A	ENST00000380861.4	+	15	2476	c.2085G>A	c.(2083-2085)ccG>ccA	p.P695P	WWC3_ENST00000454666.1_Silent_p.P695P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	695	C2.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CAGTGACTCCGCAGCTGCAGG	0.537													False	0	False	X:10094325	0	A	10094325	G	A	10094325	2	1	133	1	0	0	0	0	0	0	0	1	17497	1074	38	1		1	WWC3	23	10094325	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3615	10094325	145176235	179	33219											
KLHL34	257240	broad.mit.edu	37	chrX	21675080	21675080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcgggtctgggggctcCggatgctggtctgctcgccc	17	12	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:21675080C>T	ENST00000379499.2	-	1	1368	c.827G>A	c.(826-828)cGg>cAg	p.R276Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	276										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CTGGGGGCTCCGGATGCTGGT	0.706													False	0	False	X:21675080	0	T	21675080	C	T	21675080	3	4	133	1	0	0	0	0	1	0	0	0	8437	652	23	1	1111	1	KLHL34	23	21675080	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	11580755	21675080	133595480	180	33220											
TAF7L	54457	broad.mit.edu	37	chrX	100547881	100547881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatctgggtgccttcgtcGccagcaatgtcggcgctgct	14	12	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:100547881G>A	ENST00000372907.3	-	1	164	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	51					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGCCTTCGTCGCCAGCAATGT	0.562													False	0	False	X:100547881	0	A	100547881	G	A	100547881	2	1	133	1	0	0	0	0	0	0	0	1	15615	1074	38	1		1	TAF7L	23	100547881	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	78872801	100547881	54722679	181	33221											
ATP1B4	23439	broad.mit.edu	37	chrX	119509336	119509336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcctgccaatttaagcgCtccttcctaaagaactgctc	7	13	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:119509336C>T	ENST00000218008.3	+	5	729	c.672C>T	c.(670-672)cgC>cgT	p.R224R	ATP1B4_ENST00000361319.3_Silent_p.R220R|ATP1B4_ENST00000539306.1_Silent_p.R181R	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	224					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AATTTAAGCGCTCCTTCCTAA	0.478													False	0	True	X:119509336	0	T	119509336	C	T	119509336	2	4	133	1	0	0	0	0	0	0	0	1	1139	784	28	2		2	ATP1B4	23	119509336	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	18961455	119509336	35761224	182	33222											
MAGEA8	4107	broad.mit.edu	37	chrX	149013926	149013926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagtcctggagcatgtgGtcagggtcaatgcaagagtt	14	6	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:149013926G>A	ENST00000535454.1	+	4	1429	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	MAGEA8_ENST00000542674.1_Missense_Mutation_p.V294I|MAGEA8_ENST00000286482.1_Missense_Mutation_p.V294I	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	294	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCATGTGGTCAGGGTCAA	0.572													False	0	False	X:149013926	0	A	149013926	G	A	149013926	3	1	133	1	0	0	0	0	1	0	0	0	9236	1261	44	2	882	2	MAGEA8	23	149013926	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	29504590	149013926	6256634	183	33223											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	134	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-US-A779-01A-11D-A32N-08		22987385	226263236	1	33224											
IL22RA1	58985	broad.mit.edu	37	chr1	24447351	24447351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagagaatccagttctgTgggctgctccaggtctgagg	14	8	2	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:24447351T>C	ENST00000270800.1	-	7	1707	c.1669A>G	c.(1669-1671)Aca>Gca	p.T557A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	557						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCCAGTTCTGTGGGCTGCTCC	0.607													False	0	True	1:24447351	0	C	24447351	T	C	24447351	3	2	134	1	0	0	0	0	1	0	0	0	7723	1696	59	4	59	4	IL22RA1	1	24447351	Missense_Mutation	SNP	T	TCGA-US-A779-01A-11D-A32N-08	1459966	24447351	224803270	2	33225											
ZFYVE9	9372	broad.mit.edu	37	chr1	52769568	52769569	+	Frame_Shift_Ins	INS	-	-	GATTGAAGCAGAATAAATTAATTCATCAATGG													ggaagttcggaaaactagcaINStcaaaattcccagcaacaga							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:52769568_52769569insGATTGAAGCAGAATAAATTAATTCATCAATGG	ENST00000371591.1	+	12	3540_3541	c.3409_3410insGATTGAAGCAGAATAAATTAATTCATCAATGG	c.(3409-3411)atcfs	p.I1137fs	ZFYVE9_ENST00000357206.2_Frame_Shift_Ins_p.I1078fs|ZFYVE9_ENST00000287727.3_Frame_Shift_Ins_p.I1137fs|ZFYVE9_ENST00000469134.1_3'UTR			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1137					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GAAAACTAGCATCAAAATTCCC	0.381													False	0	False	1:52769568	0	GATTGAAGCAGAATAAATTAATTCATCAATGG	52769569	-	GATTGAAGCAGAATAAATTAATTCATCAATGG	52769568	7	5	134	1	0	1	1	0	0	0	0	0	17754	217	8	0	3462	0	ZFYVE9	1	52769568	Frame_Shift_Ins	INS	-	TCGA-US-A779-01A-11D-A32N-08	28322217	52769568	196481053	3	33226											
CELSR2	1952	broad.mit.edu	37	chr1	109806332	109806332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacctcagcctcatgttccGcacgcgccaggccgacggtg	12	16	2	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:109806332G>A	ENST00000271332.3	+	9	4995	c.4934G>A	c.(4933-4935)cGc>cAc	p.R1645H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1645	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCATGTTCCGCACGCGCCAG	0.662											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:109806332	0	A	109806332	G	A	109806332	3	1	134	1	0	0	0	0	1	0	0	0	3245	1087	38	1	4968	1	CELSR2	1	109806332	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	57036764	109806332	139444289	4	33227											
POU2F1	5451	broad.mit.edu	37	chr1	167343484	167343484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccatctccgcctctgctgCcacgcccatgacgcagatcc	7	20	2	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:167343484C>A	ENST00000367862.5	+	6	744	c.509C>A	c.(508-510)gCc>gAc	p.A170D	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.A181D|POU2F1_ENST00000541643.3_Missense_Mutation_p.A158D|POU2F1_ENST00000420254.3_Missense_Mutation_p.A158D|POU2F1_ENST00000452019.1_Missense_Mutation_p.A158D|POU2F1_ENST00000429375.2_Intron	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	158					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCCTCTGCTGCCACGCCCATG	0.617													False	0	False	1:167343484	0	A	167343484	C	A	167343484	3	1	134	1	0	0	0	0	1	0	0	0	12340	739	26	3	491	3	POU2F1	1	167343484	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	57537152	167343484	81907137	5	33228											
CFH	3075	broad.mit.edu	37	chr1	196714957	196714957	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttttagattctacaggAaaatgtgggccccctccacc	8	11	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:196714957A>C	ENST00000367429.4	+	21	3561	c.3321A>C	c.(3319-3321)ggA>ggC	p.G1107G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1107	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTCTACAGGAAAATGTGGGC	0.398													False	0	True	1:196714957	0	C	196714957	A	C	196714957	2	2	134	1	0	0	0	0	0	0	0	1	3306	233	9	4		4	CFH	1	196714957	Silent	SNP	A	TCGA-US-A779-01A-11D-A32N-08	29371473	196714957	52535664	6	33229											
SUSD4	55061	broad.mit.edu	37	chr1	223465880	223465880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcccttcagcttgaatcCgtcttggcagtgaaatcggg	12	11	2	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:223465880C>T	ENST00000343846.3	-	2	895	c.262G>A	c.(262-264)Gga>Aga	p.G88R	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000366878.4_Missense_Mutation_p.G88R|SUSD4_ENST00000494793.2_Missense_Mutation_p.G88R|SUSD4_ENST00000344029.6_Missense_Mutation_p.G88R			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	88	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCTTGAATCCGTCTTGGCAG	0.512													False	0	False	1:223465880	0	T	223465880	C	T	223465880	3	4	134	1	0	0	0	0	1	0	0	0	15492	661	23	1	1391	1	SUSD4	1	223465880	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	26750923	223465880	25784741	7	33230											
XPO1	7514	broad.mit.edu	37	chr2	61715751	61715752	+	Frame_Shift_Ins	INS	-	-	AAAACAGTTAAGTG													ggatagctgcagaaatatttINStcactgaggcacttgtatac							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:61715751_61715752insAAAACAGTTAAGTG	ENST00000401558.2	-	18	2904_2905	c.2177_2178insCACTTAACTGTTTT	c.(2176-2178)gaafs	p.E726fs	XPO1_ENST00000406957.1_Frame_Shift_Ins_p.E726fs|XPO1_ENST00000404992.2_Frame_Shift_Ins_p.E726fs	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	726					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CAGAAATATTTTCACTGAGGCA	0.366			Mis		CLL								False	0	True	2:61715751	0	AAAACAGTTAAGTG	61715752	-	AAAACAGTTAAGTG	61715751	7	5	134	1	0	1	1	0	0	0	0	0	17529	1838	64	0	1069	0	XPO1	2	61715751	Frame_Shift_Ins	INS	-	TCGA-US-A779-01A-11D-A32N-08		61715751	181483622	8	33231											
ADRA2B	151	broad.mit.edu	37	chr2	96780765	96780765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcagagcacaaaaacgCcaatgaccacagccagcacg	8	15	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:96780765C>T	ENST00000409345.3	-	1	1219	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	378					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CACAAAAACGCCAATGACCAC	0.622													False	0	False	2:96780765	0	T	96780765	C	T	96780765	3	4	134	1	0	0	0	0	1	0	0	0	338	739	26	2	223	2	ADRA2B	2	96780765	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	35065014	96780765	146418608	9	33232											
SEMA4C	54910	broad.mit.edu	37	chr2	97533539	97533539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagacactgtcttacgcgGcacaaggttccaccacacct	8	14	1	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:97533539G>A	ENST00000305476.5	-	2	217	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	29					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GTCTTACGCGGCACAAGGTTC	0.642													False	0	False	2:97533539	0	A	97533539	G	A	97533539	3	1	134	1	0	0	0	0	1	0	0	0	14114	1203	42	2	2472	2	SEMA4C	2	97533539	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	752774	97533539	145665834	10	33233											
EN1	2019	broad.mit.edu	37	chr2	119604041	119604042	+	Frame_Shift_Ins	INS	-	-	CT													ttggtgccctgcgctccgggINSgctccccgcgccgcctccac							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:119604041_119604042insCT	ENST00000295206.6	-	1	1212_1213	c.702_703insAG	c.(700-705)agccccfs	p.P235fs		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	235					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						TGCGCTCCGGGGCTCCCCGCGC	0.752													False	0	True	2:119604041	0	CT	119604042	-	CT	119604041	7	5	134	1	0	1	1	0	0	0	0	0	5141	1232	43	0	483	0	EN1	2	119604041	Frame_Shift_Ins	INS	-	TCGA-US-A779-01A-11D-A32N-08	22070502	119604041	123595332	11	33234											
RBMS1	5937	broad.mit.edu	37	chr2	161159916	161159916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaataacttgtccaaatggtTtgagcatattttctagttct	6	6	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:161159916T>C	ENST00000348849.3	-	5	915	c.485A>G	c.(484-486)aAa>aGa	p.K162R	RBMS1_ENST00000409075.1_Missense_Mutation_p.K129R|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.K162R|RBMS1_ENST00000409289.2_Missense_Mutation_p.K129R|RBMS1_ENST00000409972.1_Missense_Mutation_p.K129R	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	162	RRM 2.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								TCCAAATGGTTTGAGCATATT	0.413													False	0	True	2:161159916	0	C	161159916	T	C	161159916	3	2	134	1	0	0	0	0	1	0	0	0	13227	1841	64	4	771	4	RBMS1	2	161159916	Missense_Mutation	SNP	T	TCGA-US-A779-01A-11D-A32N-08	41555875	161159916	82039457	12	33235											
PPP1R1C	151242	broad.mit.edu	37	chr2	182850872	182850872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaaaaagatacagtttgCcgtgcctgtattccagagtc	8	11	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:182850872C>T	ENST00000409137.3	+	1	278	c.35C>T	c.(34-36)gCc>gTc	p.A12V	PPP1R1C_ENST00000409702.1_Missense_Mutation_p.A12V|PPP1R1C_ENST00000280295.3_Missense_Mutation_p.A12V|PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.A12V	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	12					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			ATACAGTTTGCCGTGCCTGTA	0.448													False	0	False	2:182850872	0	T	182850872	C	T	182850872	3	4	134	1	0	0	0	0	1	0	0	0	12443	739	26	2	37	2	PPP1R1C	2	182850872	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	21690956	182850872	60348501	13	33236											
UGT1A9	0	broad.mit.edu	37	chr2	234580748	234580748	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggggcatgaggtggtTgtagtcatgccagaggtgag	18	6	2	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:234580748T>C	ENST00000354728.4	+	1	250	c.168T>C	c.(166-168)gtT>gtC	p.V56V	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Silent_p.V56V														p.V56V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		ATGAGGTGGTTGTAGTCATGC	0.532													False	0	False	2:234580748	0	C	234580748	T	C	234580748	2	2	134	1	0	0	0	0	0	0	0	1	17036	1799	63	4		4	UGT1A9	2	234580748	Silent	SNP	T	TCGA-US-A779-01A-11D-A32N-08	51729876	234580748	8618625	14	33237											
VGLL4	9686	broad.mit.edu	37	chr3	11643423	11643423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgattgggggagggccGgtgcggtgactgctgagggc	23	7	0	3	rs151086238	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:11643423G>A	ENST00000273038.3	-	3	503	c.138C>T	c.(136-138)acC>acT	p.T46T	VGLL4_ENST00000430365.2_Silent_p.T52T|VGLL4_ENST00000413604.1_5'UTR|VGLL4_ENST00000404339.1_Silent_p.T51T	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GGGGAGGGCCGGTGCGGTGAC	0.592													False	0	True	3:11643423	0	A	11643423	G	A	11643423	2	1	134	1	0	0	0	0	0	0	0	1	17245	1103	39	1		1	VGLL4	3	11643423	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08		11643423	186379007	15	33238											
RFTN1	23180	broad.mit.edu	37	chr3	16475456	16475456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggggtgcagggccgccagCgagaagccctgctggtacag	17	11	0	1	rs144679139		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:16475456C>T	ENST00000334133.4	-	3	506	c.234G>A	c.(232-234)tcG>tcA	p.S78S	RFTN1_ENST00000432519.1_Silent_p.S42S	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	78						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGGCCGCCAGCGAGAAGCCCT	0.647													False	0	False	3:16475456	0	T	16475456	C	T	16475456	2	4	134	1	0	0	0	0	0	0	0	1	13337	755	27	1		1	RFTN1	3	16475456	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	4832033	16475456	181546974	16	33239											
PLCD1	5333	broad.mit.edu	37	chr3	38049624	38049624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcacaactacctcaaacGcaaactccgtgtcccaccat	5	17	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:38049624G>A	ENST00000463876.1	-	14	2482	c.2129C>T	c.(2128-2130)gCg>gTg	p.A710V	PLCD1_ENST00000334661.4_Missense_Mutation_p.A689V	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	689	C2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TACCTCAAACGCAAACTCCGT	0.557													False	0	False	3:38049624	0	A	38049624	G	A	38049624	3	1	134	1	0	0	0	0	1	0	0	0	12100	1087	38	1	212	1	PLCD1	3	38049624	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	21574168	38049624	159972806	17	33240											
FBXW12	285231	broad.mit.edu	37	chr3	48436086	48436086	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttagggtgaggaaagtaagtGactccagcattctggtgatg	14	5	1	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:48436086G>A	ENST00000296438.5	+	11	1543	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	FBXW12_ENST00000468158.1_Intron|FBXW12_ENST00000415155.1_Missense_Mutation_p.D383N|FBXW12_ENST00000445170.1_Missense_Mutation_p.D434N|FBXW12_ENST00000436231.1_Missense_Mutation_p.D296N	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	453										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAAGTAAGTGACTCCAGCAT	0.358													False	0	True	3:48436086	0	A	48436086	G	A	48436086	3	1	134	1	0	0	0	0	1	0	0	0	5805	1290	45	2	1432	2	FBXW12	3	48436086	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	10386462	48436086	149586344	18	33241											
RYBP	23429	broad.mit.edu	37	chr3	72428210	72428210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccttgaggtgtgatttgtttCgctggtctttgttgtagcat	12	6	1	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:72428210C>A	ENST00000477973.2	-	3	679	c.680G>T	c.(679-681)cGa>cTa	p.R227L		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein						apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TGATTTGTTTCGCTGGTCTTT	0.393													False	0	True	3:72428210	0	A	72428210	C	A	72428210	3	1	134	1	0	0	0	0	1	0	0	0	13845	893	31	3	279	3	RYBP	3	72428210	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	23992124	72428210	125594220	19	33242											
PDZRN3	23024	broad.mit.edu	37	chr3	73440202	73440202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccaatgtcgtcttcatcGtccgtccggtagcacacagt	8	14	2	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:73440202G>A	ENST00000263666.4	-	6	1434	c.1320C>T	c.(1318-1320)gaC>gaT	p.D440D	PDZRN3_ENST00000462146.2_Silent_p.D97D|PDZRN3_ENST00000535920.1_Silent_p.D162D|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Silent_p.D157D|PDZRN3_ENST00000466780.1_Silent_p.D97D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	440	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGTCTTCATCGTCCGTCCGGT	0.443													False	0	True	3:73440202	0	A	73440202	G	A	73440202	2	1	134	1	0	0	0	0	0	0	0	1	11777	1136	40	1		1	PDZRN3	3	73440202	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	1011992	73440202	124582228	20	33243											
ZNF148	7707	broad.mit.edu	37	chr3	124953158	124953158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcataccacattcatcacagCgaaatggtttttcacctagc	5	12	4	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:124953158C>T	ENST00000360647.4	-	8	1168	c.683G>A	c.(682-684)cGc>cAc	p.R228H	ZNF148_ENST00000485866.1_Missense_Mutation_p.R228H|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.R228H|ZNF148_ENST00000492394.1_Missense_Mutation_p.R228H|ZNF148_ENST00000544464.1_Missense_Mutation_p.R23H|ZNF148_ENST00000468369.1_Missense_Mutation_p.R36H|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	228					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTCATCACAGCGAAATGGTTT	0.294													False	0	False	3:124953158	0	T	124953158	C	T	124953158	3	4	134	1	0	0	0	0	1	0	0	0	17817	768	27	1	1709	1	ZNF148	3	124953158	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	51512956	124953158	73069272	21	33244											
RGS12	6002	broad.mit.edu	37	chr4	3318330	3318330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggaaatgcagtctggtGgaattttcaatatgattttt	11	3	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:3318330G>A	ENST00000336727.3	+	2	1337	c.433G>A	c.(433-435)Gga>Aga	p.G145R	RGS12_ENST00000382788.3_Missense_Mutation_p.G145R|RGS12_ENST00000344733.5_Missense_Mutation_p.G145R|RGS12_ENST00000543385.1_Missense_Mutation_p.G145R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	145						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGTCTGGTGGAATTTTCAA	0.468													False	0	False	4:3318330	0	A	3318330	G	A	3318330	3	1	134	1	0	0	0	0	1	0	0	0	13374	1349	47	2	435	2	RGS12	4	3318330	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		3318330	187835946	22	33245											
PPP2R2C	5522	broad.mit.edu	37	chr4	6380234	6380234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgagatagtcaaactcCggctcgtggctctggaaagt	11	10	3	1	rs147944662	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:6380234C>T	ENST00000335585.5	-	3	257	c.234G>A	c.(232-234)ccG>ccA	p.P78P	PPP2R2C_ENST00000507294.1_Silent_p.P71P|PPP2R2C_ENST00000506140.1_Silent_p.P71P|PPP2R2C_ENST00000515571.1_Silent_p.P61P|PPP2R2C_ENST00000382599.4_Silent_p.P78P|PPP2R2C_ENST00000314348.8_Intron	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	78					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						AGTCAAACTCCGGCTCGTGGC	0.572													False	0	False	4:6380234	0	T	6380234	C	T	6380234	2	4	134	1	0	0	0	0	0	0	0	1	12460	639	23	1		1	PPP2R2C	4	6380234	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	3061904	6380234	184774042	23	33246											
MMRN1	22915	broad.mit.edu	37	chr4	90872802	90872802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgccaaaatgggggcacGtgcataaatggaagaactag	13	8	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:90872802G>A	ENST00000394980.1	+	8	3484	c.3165G>A	c.(3163-3165)acG>acA	p.T1055T	MMRN1_ENST00000264790.2_Silent_p.T1055T|MMRN1_ENST00000394981.1_Silent_p.T358T|MMRN1_ENST00000508372.1_Silent_p.T797T			Q13201	MMRN1_HUMAN	multimerin 1	1055	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATGGGGGCACGTGCATAAATG	0.433													False	0	False	4:90872802	0	A	90872802	G	A	90872802	2	1	134	1	0	0	0	0	0	0	0	1	9737	1132	40	1		1	MMRN1	4	90872802	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	84492568	90872802	100281474	24	33247											
PHF17	0	broad.mit.edu	37	chr4	129783124	129783124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaccgggtgagtgtccGtaagcagaagctgcagcagt	15	11	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:129783124G>A	ENST00000226319.6	+	9	1527	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	PHF17_ENST00000512960.1_Missense_Mutation_p.R416H|PHF17_ENST00000413543.2_Missense_Mutation_p.R416H|PHF17_ENST00000511647.1_Missense_Mutation_p.R416H|PHF17_ENST00000452328.2_Missense_Mutation_p.R404H	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		416					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GTGAGTGTCCGTAAGCAGAAG	0.607													False	0	False	4:129783124	0	A	129783124	G	A	129783124	3	1	134	1	0	0	0	0	1	0	0	0	11897	1145	40	1	1277	1	PHF17	4	129783124	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	38910322	129783124	61371152	25	33248											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	134	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-US-A779-01A-11D-A32N-08		78610444	102304816	26	33249											
CMYA5	202333	broad.mit.edu	37	chr5	79026738	79026738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaagaaaacaattgaccGtaagtccccgttaatattga	7	8	0	4			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:79026738G>A	ENST00000446378.2	+	2	2181	c.2150G>A	c.(2149-2151)cGt>cAt	p.R717H		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	717						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAATTGACCGTAAGTCCCCG	0.448													False	0	False	5:79026738	0	A	79026738	G	A	79026738	3	1	134	1	0	0	0	0	1	0	0	0	3613	1145	40	1	2156	1	CMYA5	5	79026738	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	416294	79026738	101888522	27	33250											
NR2F1	7025	broad.mit.edu	37	chr5	92921011	92921011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcggggacaagtcgagCggcaagcactacggccaatt	15	10	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:92921011C>T	ENST00000327111.3	+	1	1969	c.282C>T	c.(280-282)agC>agT	p.S94S	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	94					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ACAAGTCGAGCGGCAAGCACT	0.642													False	0	False	5:92921011	0	T	92921011	C	T	92921011	2	4	134	1	0	0	0	0	0	0	0	1	10695	767	27	1		1	NR2F1	5	92921011	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	13894273	92921011	87994249	28	33251											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	134	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-US-A779-01A-11D-A32N-08		7393450	163721617	29	33252											
ZNF184	7738	broad.mit.edu	37	chr6	27420760	27420760	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagatggttcttgtgttacaAggtttgaactcacattgaca	10	6	2	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:27420760A>T	ENST00000211936.6	-	6	862	c.578T>A	c.(577-579)cTt>cAt	p.L193H	ZNF184_ENST00000377419.1_Missense_Mutation_p.L193H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTGTGTTACAAGGTTTGAACT	0.368													False	0	False	6:27420760	0	T	27420760	A	T	27420760	3	4	134	1	0	0	0	0	1	0	0	0	17834	72	3	5	1681	5	ZNF184	6	27420760	Missense_Mutation	SNP	A	TCGA-US-A779-01A-11D-A32N-08	20027310	27420760	143694307	30	33253											
C4A	720	broad.mit.edu	37	chr6	31964274	31964274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggctcctgggtgcccaCgcagctgccatcacggccta	13	16	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:31964274C>T	ENST00000428956.2	+	28	3657	c.3573C>T	c.(3571-3573)caC>caT	p.H1191H	C4A_ENST00000498271.1_Silent_p.H1191H	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		TGGGTGCCCACGCAGCTGCCA	0.592													False	0	False	6:31964274	0	T	31964274	C	T	31964274	2	4	134	1	0	0	0	0	0	0	0	1	2264	535	19	1		1	C4A	6	31964274	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	4543514	31964274	139150793	31	33254											
IYD	389434	broad.mit.edu	37	chr6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagtacatggtttcgccGcaaatggcaagaaaaaagtc	9	8	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433													False	0	False	6:150715311	0	A	150715311	G	A	150715311	3	1	134	1	0	0	0	0	1	0	0	0	7982	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	118751037	150715311	20399756	32	33255											
ZMIZ2	83637	broad.mit.edu	37	chr7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-													aagcggcagctgctgcagctGtggctgctgcggcagccact					rs142075074	by1000genomes	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678													False	1	False	7:44797065	0	-	44797109	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	44797065	7	5	134	1	0	1	0	1	0	0	0	0	17780	1377	48	0	471	0	ZMIZ2	7	44797065	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	TCGA-US-A779-01A-11D-A32N-08		44797065	114341598	33	33256											
VWC2	375567	broad.mit.edu	37	chr7	49815696	49815696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactactgcgagttccgggGcaagacctatcagactttgg	12	10	1	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:49815696G>A	ENST00000340652.4	+	2	1221	c.665G>A	c.(664-666)gGc>gAc	p.G222D		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2		VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GAGTTCCGGGGCAAGACCTAT	0.617													False	0	True	7:49815696	0	A	49815696	G	A	49815696	3	1	134	1	0	0	0	0	1	0	0	0	17327	1203	42	2	667	2	VWC2	7	49815696	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	5018631	49815696	109322967	34	33257											
WBSCR17	64409	broad.mit.edu	37	chr7	70853388	70853388	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatgacaacagcgacgaagGtacaggggtggctgacctgt	16	8	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:70853388G>T	ENST00000333538.5	+	3	1223		c.e3+1		WBSCR17_ENST00000498380.2_Splice_Site	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGCGACGAAGGTACAGGGGTG	0.582													False	0	False	7:70853388	0	T	70853388	G	T	70853388	5	4	134	1	0	0	0	0	0	0	1	0	17348	1275	44	3	600	3	WBSCR17	7	70853388	Splice_Site	SNP	G	TCGA-US-A779-01A-11D-A32N-08	21037692	70853388	88285275	35	33258											
SEMA3D	223117	broad.mit.edu	37	chr7	84642125	84642125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcccagcactgggtgaTtgggtcgccatattttacat	11	9	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:84642125T>C	ENST00000284136.6	-	15	1784	c.1741A>G	c.(1741-1743)Atc>Gtc	p.I581V	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	581	PSI.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CACTGGGTGATTGGGTCGCCA	0.393													False	0	False	7:84642125	0	C	84642125	T	C	84642125	3	2	134	1	0	0	0	0	1	0	0	0	14108	1493	52	4	604	4	SEMA3D	7	84642125	Missense_Mutation	SNP	T	TCGA-US-A779-01A-11D-A32N-08	13788737	84642125	74496538	36	33259											
FAM3C	10447	broad.mit.edu	37	chr7	120991269	120991269	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctctaaaaccaagattAgtaatagatgtgctccccaa	6	9	1	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:120991269A>T	ENST00000359943.3	-	9	735	c.522T>A	c.(520-522)acT>acA	p.T174T		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	174					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					AACCAAGATTAGTAATAGATG	0.428													False	0	False	7:120991269	0	T	120991269	A	T	120991269	2	4	134	1	0	0	0	0	0	0	0	1	5598	407	15	5		5	FAM3C	7	120991269	Silent	SNP	A	TCGA-US-A779-01A-11D-A32N-08	36349144	120991269	38147394	37	33260											
CNTNAP2	26047	broad.mit.edu	37	chr7	147600759	147600759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcctgcggcatcgaacGcaactgcacagatcccaagt	10	13	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:147600759G>A	ENST00000361727.3	+	14	2717	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	734	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCATCGAACGCAACTGCACA	0.582										HNSCC(39;0.1)			False	0	False	7:147600759	0	A	147600759	G	A	147600759	3	1	134	1	0	0	0	0	1	0	0	0	3670	1087	38	1	2255	1	CNTNAP2	7	147600759	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	26609490	147600759	11537904	38	33261											
BMP1	649	broad.mit.edu	37	chr8	22064900	22064900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggcgagacgccaaggccCccgtcctcggccgcttctgt	13	17	1	1	rs150161793		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:22064900C>T	ENST00000306385.5	+	18	3116	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	816	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGCCAAGGCCCCCGTCCTCGG	0.627													False	0	True	8:22064900	0	T	22064900	C	T	22064900	3	4	134	1	0	0	0	0	1	0	0	0	1461	623	22	2	2606	2	BMP1	8	22064900	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08		22064900	124299122	39	33262											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24254971	24254972	+	Splice_Site	INS	-	-	TTTATCTGGTATCTTTGGTGATGATGTGTGAAGTATCCTCTGGGA													tcactcaaaagcccagaggtINSgaatacaattcccttacctc							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:24254971_24254972insTTTATCTGGTATCTTTGGTGATGATGTGTGAAGTATCCTCTGGGA	ENST00000256412.4	+	6	847		c.e6+2		ADAMDEC1_ENST00000538205.1_Splice_Site|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Splice_Site	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1						integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGCCCAGAGGTGAATACAATTC	0.421													False	0	False	8:24254971	0	TTTATCTGGTATCTTTGGTGATGATGTGTGAAGTATCCTCTGGGA	24254972	-	TTTATCTGGTATCTTTGGTGATGATGTGTGAAGTATCCTCTGGGA	24254971	8	5	134	1	0	1	1	0	0	0	1	0	254	1710	59	0	651	0	ADAMDEC1	8	24254971	Splice_Site	INS	-	TCGA-US-A779-01A-11D-A32N-08	2190071	24254971	122109051	40	33263											
CSMD3	114788	broad.mit.edu	37	chr8	113697844	113697844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgaaagaaagatgtatcCggctccctggatcagagatt	10	8	1	4			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:113697844C>T	ENST00000297405.5	-	15	2517	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.R758Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R718Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R654Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	758	CUB 4.					integral to membrane|plasma membrane		p.R758Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGATGTATCCGGCTCCCTGG	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	False	8:113697844	0	T	113697844	C	T	113697844	3	4	134	1	0	0	0	0	1	0	0	0	3971	652	23	1	9078	1	CSMD3	8	113697844	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	89442873	113697844	32666178	41	33264											
RAD21	5885	broad.mit.edu	37	chr8	117869572	117869572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatcttcatattctaaatGgttaattttctcattcagat	4	6	5	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:117869572G>A	ENST00000297338.2	-	6	909	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	208					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TATTCTAAATGGTTAATTTTC	0.358													False	0	False	8:117869572	0	A	117869572	G	A	117869572	3	1	134	1	0	0	0	0	1	0	0	0	13060	1348	47	2	1309	2	RAD21	8	117869572	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	4171728	117869572	28494450	42	33265											
ZFAT	57623	broad.mit.edu	37	chr8	135614834	135614834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtcctgtgggtcatgCgcgtctcggatgtgcttgat	13	9	3	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:135614834C>T	ENST00000520727.1	-	7	1391	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552													False	0	False	8:135614834	0	T	135614834	C	T	135614834	2	4	134	1	0	0	0	0	0	0	0	1	17715	755	27	1		1	ZFAT	8	135614834	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	17745262	135614834	10749188	43	33266											
ZC3H3	23144	broad.mit.edu	37	chr8	144620690	144620690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcctgaggccggtctggCggggccccccactgagccag	17	15	1	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:144620690C>T	ENST00000262577.5	-	2	878	c.847G>A	c.(847-849)Gcc>Acc	p.A283T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	283					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCCGGTCTGGCGGGGCCCCCC	0.617													False	0	True	8:144620690	0	T	144620690	C	T	144620690	3	4	134	1	0	0	0	0	1	0	0	0	17652	768	27	1	2043	1	ZC3H3	8	144620690	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	9005856	144620690	1743332	44	33267											
OR2K2	26248	broad.mit.edu	37	chr9	114090671	114090672	+	In_Frame_Ins	INS	-	-	TTTCATGGATATTTGTTA													gggtactgggaaaatccctcINScaagaaaaaaatgctccaaa							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr9:114090671_114090672insTTTCATGGATATTTGTTA	ENST00000302681.1	-	1	41_42	c.42_43insTAACAAATATCCATGAAA	c.(40-45)ttggag>ttgTAACAAATATCCATGAAAgag	p.14_15LE>L*QISMKE	OR2K2_ENST00000374428.1_In_Frame_Ins_p.43_44LE>L*QISMKE	NM_205859.1	NP_995581.1	Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GAAAATCCCTCCAAGAAAAAAA	0.391													False	0	False	9:114090671	0	TTTCATGGATATTTGTTA	114090672	-	TTTCATGGATATTTGTTA	114090671	7	5	134	1	0	1	1	0	0	0	0	0	11073	864	30	0	910	0	OR2K2	9	114090671	In_Frame_Ins	INS	-	TCGA-US-A779-01A-11D-A32N-08		114090671	27122760	45	33268											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgccattgaaatgcaaaaGtctgttccaaataaagcctt	6	10	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:37486356G>C	ENST00000374660.1	+	35	2952	c.2853G>C	c.(2851-2853)aaG>aaC	p.K951N	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1000						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGCAAAAGTCTGTTCCAA	0.308													False	0	True	10:37486356	0	C	37486356	G	C	37486356	3	2	134	1	0	0	0	0	1	0	0	0	658	1020	36	5	2610	5	ANKRD30A	10	37486356	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		37486356	98048391	46	33269											
RET	5979	broad.mit.edu	37	chr10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggactacttggaccttgCggcgtccactccatctgact	9	15	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGGACCTTGCGGCGTCCACT	0.557		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				False	0	False	10:43622039	0	T	43622039	C	T	43622039	3	4	134	1	0	0	0	0	1	0	0	0	13314	768	27	1	3130	1	RET	10	43622039	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	6135683	43622039	91912708	47	33270											
EPS8L2	64787	broad.mit.edu	37	chr11	722431	722431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagtggcccagacatcGcacgctccgtctcctgccca	9	19	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:722431G>A	ENST00000533256.1	+	14	1465	c.1090G>A	c.(1090-1092)Gca>Aca	p.A364T	EPS8L2_ENST00000318562.8_Missense_Mutation_p.A364T|EPS8L2_ENST00000530636.1_Missense_Mutation_p.A364T|EPS8L2_ENST00000526198.1_Missense_Mutation_p.A380T|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	364						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGACATCGCACGCTCCGT	0.647													False	0	False	11:722431	0	A	722431	G	A	722431	3	1	134	1	0	0	0	0	1	0	0	0	5228	1087	38	1	1136	1	EPS8L2	11	722431	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		722431	134284085	48	33271											
PRDM11	56981	broad.mit.edu	37	chr11	45246062	45246062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacgcctacagtcagtgtgCaacaacaatgacccatggtg	10	11	1	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:45246062C>A	ENST00000263765.4	+	8	1388	c.1139C>A	c.(1138-1140)gCa>gAa	p.A380E	PRDM11_ENST00000424263.2_Missense_Mutation_p.A346E|PRDM11_ENST00000530656.1_Missense_Mutation_p.A380E|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	380										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGTCAGTGTGCAACAACAATG	0.582													False	0	True	11:45246062	0	A	45246062	C	A	45246062	3	1	134	1	0	0	0	0	1	0	0	0	12528	710	25	3	1165	3	PRDM11	11	45246062	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	44523631	45246062	89760454	49	33272											
TSGA10IP	254187	broad.mit.edu	37	chr11	65714436	65714436	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagacagcaaagaaggaccGcaagcccaggggccagagca	14	12	0	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:65714436G>A	ENST00000532620.1	+	0	464				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AAGAAGGACCGCAAGCCCAGG	0.597													False	0	False	11:65714436	0	A	65714436	G	A	65714436	1	1	134	0	1	0	0	0	0	0	0	0	16701	1087	38	1		1	TSGA10IP	11	65714436	RNA	SNP	G	TCGA-US-A779-01A-11D-A32N-08	20468374	65714436	69292080	50	33273											
DPP3	10072	broad.mit.edu	37	chr11	66260292	66260292	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccccaacctttgagaAggacaagttcctcacccctg	8	16	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:66260292A>T	ENST00000532677.1	+	10	1552	c.1151A>T	c.(1150-1152)aAg>aTg	p.K384M	DPP3_ENST00000530165.1_Missense_Mutation_p.K335M|DPP3_ENST00000541961.1_Missense_Mutation_p.K365M|DPP3_ENST00000453114.1_Missense_Mutation_p.K365M|DPP3_ENST00000531863.1_Missense_Mutation_p.K385M|DPP3_ENST00000360510.2_Missense_Mutation_p.K365M|DPP3_ENST00000533799.1_3'UTR	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	365					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ACCTTTGAGAAGGACAAGTTC	0.597													False	0	False	11:66260292	0	T	66260292	A	T	66260292	3	4	134	1	0	0	0	0	1	0	0	0	4758	72	3	5	1128	5	DPP3	11	66260292	Missense_Mutation	SNP	A	TCGA-US-A779-01A-11D-A32N-08	545856	66260292	68746224	51	33274											
FAT3	120114	broad.mit.edu	37	chr11	92599977	92599977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcttgggcatctcgggccGtgctgtcaacgacgggagct	14	11	3	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:92599977G>A	ENST00000298047.6	+	21	11746	c.11729G>A	c.(11728-11730)cGt>cAt	p.R3910H	FAT3_ENST00000533797.1_Missense_Mutation_p.R245H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3910H|FAT3_ENST00000525166.1_Missense_Mutation_p.R3760H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3910	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R3910L(2)|p.R485L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTCGGGCCGTGCTGTCAAC	0.627										TCGA Ovarian(4;0.039)			False	0	False	11:92599977	0	A	92599977	G	A	92599977	3	1	134	1	0	0	0	0	1	0	0	0	5731	1145	40	1	11811	1	FAT3	11	92599977	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	26339685	92599977	42406539	52	33275											
CNTN5	53942	broad.mit.edu	37	chr11	99872865	99872865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggaatgctttgcacttgGcaagtaagtacatgttcttc	10	7	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:99872865G>A	ENST00000524871.1	+	9	1267	c.977G>A	c.(976-978)gGc>gAc	p.G326D	CNTN5_ENST00000418526.2_Missense_Mutation_p.G252D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G326D|CNTN5_ENST00000279463.3_Missense_Mutation_p.G326D|CNTN5_ENST00000528682.1_Missense_Mutation_p.G326D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	326	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTGCACTTGGCAAGTAAGTA	0.358													False	0	False	11:99872865	0	A	99872865	G	A	99872865	3	1	134	1	0	0	0	0	1	0	0	0	3667	1203	42	2	1003	2	CNTN5	11	99872865	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	7272888	99872865	35133651	53	33276											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	134	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08		25398284	108453611	54	33277											
METTL7A	25840	broad.mit.edu	37	chr12	51319018	51319018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaacctgcaggagtttgCgggcccctccgggaaactct	12	13	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:51319018C>T	ENST00000548553.1	+	2	1178	c.197C>T	c.(196-198)gCg>gTg	p.A66V	METTL7A_ENST00000332160.4_Missense_Mutation_p.A66V			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	66						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	p.A66V(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAGGAGTTTGCGGGCCCCTCC	0.552													False	0	True	12:51319018	0	T	51319018	C	T	51319018	3	4	134	1	0	0	0	0	1	0	0	0	9572	768	27	1	199	1	METTL7A	12	51319018	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	25920734	51319018	82532877	55	33278											
LRRC10	376132	broad.mit.edu	37	chr12	70003865	70003865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaacgcatagcgcctggCttttctagggtcgggctctg	13	12	2	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:70003865C>T	ENST00000361484.3	-	1	1077	c.754G>A	c.(754-756)Gcc>Acc	p.A252T		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	252						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TAGCGCCTGGCTTTTCTAGGG	0.582													False	0	True	12:70003865	0	T	70003865	C	T	70003865	3	4	134	1	0	0	0	0	1	0	0	0	9029	797	28	2	83	2	LRRC10	12	70003865	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	18684847	70003865	63848030	56	33279											
GPR18	0	broad.mit.edu	37	chr13	99907388	99907388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgaaacagatgtggaaggGcataaagcagacgagcacct	13	8	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr13:99907388G>A	ENST00000340807.3	-	3	1295	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.P247S|GPR18_ENST00000397470.2_Missense_Mutation_p.P247S|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	247						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	ATGTGGAAGGGCATAAAGCAG	0.527													False	0	True	13:99907388	0	A	99907388	G	A	99907388	3	1	134	1	0	0	0	0	1	0	0	0	6721	1203	42	2	260	2	GPR18	13	99907388	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		99907388	15262490	57	33280											
NYNRIN	57523	broad.mit.edu	37	chr14	24877207	24877207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcacccttgcctacctgGtgcctggcccccctggctcc	11	19	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:24877207G>T	ENST00000382554.3	+	3	649	c.331G>T	c.(331-333)Gtg>Ttg	p.V111L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	111					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCCTACCTGGTGCCTGGCCC	0.642													False	0	False	14:24877207	0	T	24877207	G	T	24877207	3	4	134	1	0	0	0	0	1	0	0	0	10864	1261	44	3	337	3	NYNRIN	14	24877207	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		24877207	82472333	58	33281											
ADAM20	8748	broad.mit.edu	37	chr14	70991279	70991279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatctctgtcccccaaaccGcaggctataggagagccatc	9	14	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:70991279G>A	ENST00000256389.3	-	2	590	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	66					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CCCCCAAACCGCAGGCTATAG	0.527													False	0	False	14:70991279	0	A	70991279	G	A	70991279	3	1	134	1	0	0	0	0	1	0	0	0	242	1086	38	1	1988	1	ADAM20	14	70991279	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	46114072	70991279	36358261	59	33282											
LTBP2	4053	broad.mit.edu	37	chr14	74969572	74969572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatactcatagcctggccGgaagtggaccccggcctccc	11	17	1	0	rs142182623		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:74969572G>A	ENST00000261978.4	-	34	5340	c.4954C>T	c.(4954-4956)Cgg>Tgg	p.R1652W	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1608W	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1652					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGCCTGGCCGGAAGTGGACC	0.632													False	0	False	14:74969572	0	A	74969572	G	A	74969572	3	1	134	1	0	0	0	0	1	0	0	0	9136	1115	39	1	523	1	LTBP2	14	74969572	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	3978293	74969572	32379968	60	33283											
LTBP2	4053	broad.mit.edu	37	chr14	74988701	74988701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacgcggttgatgcagcGcccttttcccttgcaggggt	12	15	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:74988701G>A	ENST00000261978.4	-	17	3087	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	LTBP2_ENST00000556690.1_Missense_Mutation_p.R901C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	901	Cys-rich.|EGF-like 5; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTGATGCAGCGCCCTTTTCCC	0.622													False	0	True	14:74988701	0	A	74988701	G	A	74988701	3	1	134	1	0	0	0	0	1	0	0	0	9136	1087	38	1	2844	1	LTBP2	14	74988701	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	19129	74988701	32360839	61	33284											
TRIP11	9321	broad.mit.edu	37	chr14	92470800	92470800	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acatttctgacttagtgcatCtatttcgatgtctttttctc	5	9	4	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470800C>G	ENST00000267622.4	-	11	3893	c.3520G>C	c.(3520-3522)Gat>Cat	p.D1174H		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1174					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTAGTGCATCTATTTCGATG	0.348			T	PDGFRB	AML								False	0	False	14:92470800	0	G	92470800	C	G	92470800	3	3	134	1	0	0	0	0	1	0	0	0	16638	913	32	5	2463	5	TRIP11	14	92470800	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	17482099	92470800	14878740	62	33285			1	25		3	3	169	C		1.613244e-07
TRIP11	9321	broad.mit.edu	37	chr14	92470905	92470905	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtggacaattttttattttCatcttgcagtttgataagag	8	4	2	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470905C>T	ENST00000267622.4	-	11	3788	c.3415G>A	c.(3415-3417)Gaa>Aaa	p.E1139K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1139					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTTTATTTTCATCTTGCAGT	0.338			T	PDGFRB	AML								False	0	True	14:92470905	0	T	92470905	C	T	92470905	3	4	134	1	0	0	0	0	1	0	0	0	16638	835	29	2	2568	2	TRIP11	14	92470905	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	105	92470905	14878635	63	33286			1	25		3	3	169	C		1.613244e-07
TRIP11	9321	broad.mit.edu	37	chr14	92470968	92470968	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atccatcattttgtgatattCtgtttttagatggctatttt	6	5	2	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470968C>G	ENST00000267622.4	-	11	3725	c.3352G>C	c.(3352-3354)Gaa>Caa	p.E1118Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1118					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGTGATATTCTGTTTTTAGA	0.358			T	PDGFRB	AML								False	0	False	14:92470968	0	G	92470968	C	G	92470968	3	3	134	1	0	0	0	0	1	0	0	0	16638	922	32	5	2631	5	TRIP11	14	92470968	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	63	92470968	14878572	64	33287			1	25		3	3	169	C		1.613244e-07
AHNAK2	113146	broad.mit.edu	37	chr14	105412407	105412407	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcggccagggacaggtcCccctccagccgtgcaccatc	11	17	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:105412407C>A	ENST00000333244.5	-	7	9500	c.9381G>T	c.(9379-9381)ggG>ggT	p.G3127G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3127						nucleus		p.G3127G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACAGGTCCCCCTCCAGCC	0.622													False	0	True	14:105412407	0	A	105412407	C	A	105412407	2	1	134	1	0	0	0	0	0	0	0	1	415	610	22	3		3	AHNAK2	14	105412407	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	12941439	105412407	1937133	65	33288											
TYRO3	7301	broad.mit.edu	37	chr15	41862897	41862898	+	Splice_Site	INS	-	-	GAGA													gggccggatgttgggcaaagINSgtatgtgaggctgtgtgggg							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:41862897_41862898insGAGA	ENST00000263798.3	+	12	1803	c.1579_1579insGAGA	c.(1579-1581)gga>GAGAgga	p.G527fs	TYRO3_ENST00000559066.1_Splice_Site_p.G482fs	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	527	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTTGGGCAAAGGTATGTGAGGC	0.559													False	0	False	15:41862897	0	GAGA	41862898	-	GAGA	41862897	8	5	134	1	0	1	1	0	0	0	1	0	16898	1014	35	0	1625	0	TYRO3	15	41862897	Splice_Site	INS	-	TCGA-US-A779-01A-11D-A32N-08		41862897	60668495	66	33289											
GLDN	342035	broad.mit.edu	37	chr15	51696848	51696848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttcccagtctgttcttgCcatgttagcatacaacatga	6	11	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:51696848C>T	ENST00000335449.6	+	10	1609	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	518	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCTGTTCTTGCCATGTTAGCA	0.378													False	0	False	15:51696848	0	T	51696848	C	T	51696848	3	4	134	1	0	0	0	0	1	0	0	0	6479	739	26	2	1591	2	GLDN	15	51696848	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	9833951	51696848	50834544	67	33290											
PTPLAD1	51495	broad.mit.edu	37	chr15	65822970	65822970	+	Translation_Start_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcgccctgggcagtgtggccAtggagaatcaggtgttgacg	17	9	1	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:65822970A>T	ENST00000562901.1	+	0	215				PTPLAD1_ENST00000261875.5_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000442729.2_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000565299.1_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000568793.1_Start_Codon_SNP_p.M1L			Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1						activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CAGTGTGGCCATGGAGAATCA	0.637													False	0	False	15:65822970	0	T	65822970	A	T	65822970	1	4	134	1	0	0	0	0	0	0	0	0	12852	217	8	5		5	PTPLAD1	15	65822970	Translation_Start_Site	SNP	A	TCGA-US-A779-01A-11D-A32N-08	14126122	65822970	36708422	68	33291											
PAQR4	124222	broad.mit.edu	37	chr16	3021758	3021758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctacctgcgcatggacGcactggcgctgcttggggga	15	13	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3021758G>A	ENST00000318782.8	+	3	1061	c.631G>A	c.(631-633)Gca>Aca	p.A211T	PAQR4_ENST00000293978.8_Missense_Mutation_p.A172T|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.A137T|PAQR4_ENST00000574988.1_Missense_Mutation_p.A144T|PAQR4_ENST00000576565.1_Missense_Mutation_p.A144T	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	211						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GCGCATGGACGCACTGGCGCT	0.657													False	0	False	16:3021758	0	A	3021758	G	A	3021758	3	1	134	1	0	0	0	0	1	0	0	0	11505	1087	38	1	641	1	PAQR4	16	3021758	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		3021758	87332995	69	33292											
MEFV	4210	broad.mit.edu	37	chr16	3299648	3299648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgggggcagccaggtgagCggctgcctgaggcctggggg	21	11	0	2	rs104895198	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3299648C>T	ENST00000219596.1	-	3	1082	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	MEFV_ENST00000541159.1_Missense_Mutation_p.R137H|MEFV_ENST00000536379.1_Missense_Mutation_p.R137H|MEFV_ENST00000339854.4_Missense_Mutation_p.R168H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	348					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R348H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCCAGGTGAGCGGCTGCCTGA	0.657													False	0	False	16:3299648	0	T	3299648	C	T	3299648	3	4	134	1	0	0	0	0	1	0	0	0	9526	768	27	1	1334	1	MEFV	16	3299648	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	277890	3299648	87055105	70	33293											
CREBBP	1387	broad.mit.edu	37	chr16	3824628	3824628	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttcattggggaggctgcaCgaggtcccatgggtgcttgt	17	8	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3824628C>A	ENST00000262367.5	-	12	3034	c.2225G>T	c.(2224-2226)cGt>cTt	p.R742L	CREBBP_ENST00000382070.3_Missense_Mutation_p.R704L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	742					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGAGGCTGCACGAGGTCCCAT	0.522			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						False	0	False	16:3824628	0	A	3824628	C	A	3824628	3	1	134	1	0	0	0	0	1	0	0	0	3884	536	19	3	5183	3	CREBBP	16	3824628	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	524980	3824628	86530125	71	33294											
ZC3H7A	29066	broad.mit.edu	37	chr16	11862341	11862342	+	Frame_Shift_Ins	INS	-	-	ACGCAGAGAGTAT													attctctgaagcaaacaaacINStacctggtccattcatctgc							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:11862341_11862342insACGCAGAGAGTAT	ENST00000396516.2	-	11	1386_1387	c.1189_1190insATACTCTCTGCGT	c.(1189-1191)agtfs	p.S397fs	ZC3H7A_ENST00000355758.4_Frame_Shift_Ins_p.S397fs			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	397						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AGCAAACAAACTACCTGGTCCA	0.347													False	0	True	16:11862341	0	ACGCAGAGAGTAT	11862342	-	ACGCAGAGAGTAT	11862341	7	5	134	1	0	1	1	0	0	0	0	0	17655	565	20	0	1773	0	ZC3H7A	16	11862341	Frame_Shift_Ins	INS	-	TCGA-US-A779-01A-11D-A32N-08	8037713	11862341	78492412	72	33295											
SMG1	23049	broad.mit.edu	37	chr16	18858860	18858860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatacatgtgttgttgcaGcaaaactcccagccagagct	9	11	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:18858860G>A	ENST00000446231.2	-	38	6323	c.5911C>T	c.(5911-5913)Ctg>Ttg	p.L1971L	SMG1_ENST00000389467.3_Silent_p.L1971L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1971	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTTGTTGCAGCAAAACTCCC	0.493													False	0	False	16:18858860	0	A	18858860	G	A	18858860	2	1	134	1	0	0	0	0	0	0	0	1	14875	962	34	2		2	SMG1	16	18858860	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	6996519	18858860	71495893	73	33296											
PMFBP1	83449	broad.mit.edu	37	chr16	72170640	72170640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggcctctagttccacgcGcagatccttcaccaggttct	8	16	3	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:72170640G>A	ENST00000537465.1	-	8	1155	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	PMFBP1_ENST00000237353.10_Missense_Mutation_p.R333C|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R188C			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	333										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGTTCCACGCGCAGATCCTTC	0.552													False	0	False	16:72170640	0	A	72170640	G	A	72170640	3	1	134	1	0	0	0	0	1	0	0	0	12203	1087	38	1	2142	1	PMFBP1	16	72170640	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	53311780	72170640	18184113	74	33297											
KCNG4	93107	broad.mit.edu	37	chr16	84256037	84256037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaagatagacgtggccGggaaggccatgatgaggatc	17	6	0	4	rs142742654		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:84256037G>A	ENST00000308251.4	-	3	1414	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	449						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGACGTGGCCGGGAAGGCCAT	0.627													False	0	True	16:84256037	0	A	84256037	G	A	84256037	3	1	134	1	0	0	0	0	1	0	0	0	8080	1116	39	1	215	1	KCNG4	16	84256037	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	12085397	84256037	6098716	75	33298											
TP53	7157	broad.mit.edu	37	chr17	7578373	7578373	+	Frame_Shift_Del	DEL	T	T	-													ccagccccagctgctcaccaTcgctatctgagcagcgctca							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:7578373delT	ENST00000420246.2	-	5	689	c.557delA	c.(556-558)gatfs	p.D186fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.D186fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	186	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		D -> E (in a sporadic cancer; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(2)|p.V173fs*59(2)|p.D186_P191delDGLAPP(1)|p.D186V(1)|p.D186G(1)|p.S185_D186delSD(1)|p.D186fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGCTCACCATCGCTATCTGA	0.642		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)			False	1	False	17:7578373	0	-	7578373	T	-	7578373	7	5	134	1	0	1	0	1	0	0	0	0	16464	1435	50	0	741	0	TP53	17	7578373	Frame_Shift_Del	DEL	T	TCGA-US-A779-01A-11D-A32N-08		7578373	73616837	76	33299											
KIAA1468	57614	broad.mit.edu	37	chr18	59919929	59919929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggttgtgtggcatttgCgcgtcatgttggaccaacac	13	9	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr18:59919929C>T	ENST00000256858.6	+	12	2014	c.1766C>T	c.(1765-1767)gCg>gTg	p.A589V	KIAA1468_ENST00000398130.2_Missense_Mutation_p.A589V			Q9P260	K1468_HUMAN	KIAA1468	589							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GTGGCATTTGCGCGTCATGTT	0.388													False	0	False	18:59919929	0	T	59919929	C	T	59919929	3	4	134	1	0	0	0	0	1	0	0	0	8286	768	27	1	1812	1	KIAA1468	18	59919929	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08		59919929	18157319	77	33300											
RTTN	25914	broad.mit.edu	37	chr18	67721502	67721503	+	Frame_Shift_Ins	INS	-	-	AGCTTAATTGTTTTAGTTTAGAATG													ctggacaaagaggataggtaINSttccaggagaaaggaaacct							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr18:67721502_67721503insAGCTTAATTGTTTTAGTTTAGAATG	ENST00000255674.6	-	38	5335_5336	c.5049_5050insCATTCTAAACTAAAACAATTAAGCT	c.(5047-5052)gaatacfs	p.Y1684fs	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1684							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GAGGATAGGTATTCCAGGAGAA	0.406													False	0	False	18:67721502	0	AGCTTAATTGTTTTAGTTTAGAATG	67721503	-	AGCTTAATTGTTTTAGTTTAGAATG	67721502	7	5	134	1	0	1	1	0	0	0	0	0	13816	449	16	0	1678	0	RTTN	18	67721502	Frame_Shift_Ins	INS	-	TCGA-US-A779-01A-11D-A32N-08	7801573	67721502	10355746	78	33301											
OR7D4	125958	broad.mit.edu	37	chr19	9324694	9324694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcgtacatcactgaggCggtggagctgctctgggaag	16	9	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:9324694C>T	ENST00000308682.2	-	1	848	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ATCACTGAGGCGGTGGAGCTG	0.552													False	0	False	19:9324694	0	T	9324694	C	T	9324694	3	4	134	1	0	0	0	0	1	0	0	0	11288	768	27	1	122	1	OR7D4	19	9324694	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08		9324694	49804289	79	33302											
EPS15L1	58513	broad.mit.edu	37	chr19	16551706	16551706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccctttaccttctggatcGgccaagtcccatatctgcgg	8	14	2	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:16551706G>A	ENST00000597937.1	-	4	184	c.180C>T	c.(178-180)gcC>gcT	p.A60A	EPS15L1_ENST00000455140.2_Silent_p.A60A|EPS15L1_ENST00000594975.1_Silent_p.A60A|EPS15L1_ENST00000248070.6_Silent_p.A60A|EPS15L1_ENST00000535753.2_Silent_p.A60A	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	60	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTTCTGGATCGGCCAAGTCCC	0.522													False	0	False	19:16551706	0	A	16551706	G	A	16551706	2	1	134	1	0	0	0	0	0	0	0	1	5225	1103	39	1		1	EPS15L1	19	16551706	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	7227012	16551706	42577277	80	33303											
MRPL34	64981	broad.mit.edu	37	chr19	17417119	17417119	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacggctgggtccggcgcctGagcacgccggccggcgtgca	17	16	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:17417119G>T	ENST00000602206.1	+	2	131	c.110G>T	c.(109-111)tGa>tTa	p.*37L	MRPL34_ENST00000252602.1_Silent_p.L70L|MRPL34_ENST00000595444.1_Silent_p.L162L|MRPL34_ENST00000594999.1_Silent_p.L70L|MRPL34_ENST00000600434.1_Silent_p.L70L			Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34	0					translation		structural constituent of ribosome			endometrium(1)|lung(1)	2						TCCGGCGCCTGAGCACGCCGG	0.672													False	0	False	19:17417119	0	T	17417119	G	T	17417119	4	4	134	1	0	0	0	0	0	0	0	0	9864	1277	45	3	216	3	MRPL34	19	17417119	Nonstop_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	865413	17417119	41711864	81	33304											
UNC13A	23025	broad.mit.edu	37	chr19	17720864	17720864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgacctcgatgaacggccGgaagatgccagaagtctgcc	13	11	1	4			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:17720864G>A	ENST00000428389.2	-	44	4959	c.4960C>T	c.(4960-4962)Cgg>Tgg	p.R1654W	UNC13A_ENST00000550896.1_Missense_Mutation_p.R1539W|UNC13A_ENST00000519716.2_Missense_Mutation_p.R1566W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1560W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1566W|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1585W			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1566					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ATGAACGGCCGGAAGATGCCA	0.517													False	0	False	19:17720864	0	A	17720864	G	A	17720864	3	1	134	1	0	0	0	0	1	0	0	0	17068	1115	39	1	423	1	UNC13A	19	17720864	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	303745	17720864	41408119	82	33305											
ZFP82	284406	broad.mit.edu	37	chr19	36884698	36884698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaaagtaagctgttggcGcactctgaacgccttcccac	9	12	1	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:36884698G>A	ENST00000392161.3	-	5	786	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	ZFP82_ENST00000392171.1_Missense_Mutation_p.R182C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCTGTTGGCGCACTCTGAAC	0.438													False	0	False	19:36884698	0	A	36884698	G	A	36884698	3	1	134	1	0	0	0	0	1	0	0	0	17736	1087	38	1	1058	1	ZFP82	19	36884698	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	19163834	36884698	22244285	83	33306											
NFKBIB	4793	broad.mit.edu	37	chr19	39395723	39395723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctaggcttctcggccgGcactgagtacatggacctgc	11	13	3	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:39395723G>A	ENST00000392079.3	+	2	250	c.152G>A	c.(151-153)gGc>gAc	p.G51D	NFKBIB_ENST00000313582.5_Missense_Mutation_p.G83D|NFKBIB_ENST00000572515.1_Missense_Mutation_p.G83D			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	83					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TTCTCGGCCGGCACTGAGTAC	0.587													False	0	True	19:39395723	0	A	39395723	G	A	39395723	3	1	134	1	0	0	0	0	1	0	0	0	10446	1203	42	2	254	2	NFKBIB	19	39395723	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	2511025	39395723	19733260	84	33307											
ZNF780A	284323	broad.mit.edu	37	chr19	40581109	40581109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacattcatatggttttaTaccagcatgaatactctgat	5	8	2	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:40581109T>C	ENST00000450241.2	-	6	1449	c.1138A>G	c.(1138-1140)Ata>Gta	p.I380V	ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V			O75290	Z780A_HUMAN	zinc finger protein 780A	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I415V(1)|p.I380V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTATACCAGCATGA	0.383													False	0	False	19:40581109	0	C	40581109	T	C	40581109	3	2	134	1	0	0	0	0	1	0	0	0	18234	1406	49	4	816	4	ZNF780A	19	40581109	Missense_Mutation	SNP	T	TCGA-US-A779-01A-11D-A32N-08	1185386	40581109	18547874	85	33308											
PRX	57716	broad.mit.edu	37	chr19	40902713	40902713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtacctctggaagccGcacctccggcacagccatct	9	17	2	0	rs144305922		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:40902713G>A	ENST00000324001.7	-	7	1816	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	516	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTGGAAGCCGCACCTCCGGC	0.592													False	0	False	19:40902713	0	A	40902713	G	A	40902713	3	1	134	1	0	0	0	0	1	0	0	0	12718	1086	38	1	2843	1	PRX	19	40902713	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	321604	40902713	18226270	86	33309											
EXOSC5	56915	broad.mit.edu	37	chr19	41895788	41895788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaatgccatgcaggcgGcattcagacaacaggccagg	11	14	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:41895788G>A	ENST00000221233.4	-	4	557	c.407C>T	c.(406-408)gCc>gTc	p.A136V	CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A98V|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	136					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CATGCAGGCGGCATTCAGACA	0.552													False	0	False	19:41895788	0	A	41895788	G	A	41895788	3	1	134	1	0	0	0	0	1	0	0	0	5350	1203	42	2	312	2	EXOSC5	19	41895788	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	993075	41895788	17233195	87	33310											
HIF3A	64344	broad.mit.edu	37	chr19	46825050	46825050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacacccctggcccccggAtccttgccttcctgcacccg	8	21	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:46825050A>G	ENST00000339613.2	+	10	1249	c.994A>G	c.(994-996)Atc>Gtc	p.I332V	HIF3A_ENST00000472815.1_Missense_Mutation_p.I319V|HIF3A_ENST00000300862.3_Missense_Mutation_p.I386V|HIF3A_ENST00000420102.2_Missense_Mutation_p.I337V|HIF3A_ENST00000377670.4_Missense_Mutation_p.I388V|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.I319V|HIF3A_ENST00000244303.6_Missense_Mutation_p.I319V			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGGCCCCCGGATCCTTGCCTT	0.682													False	0	False	19:46825050	0	G	46825050	A	G	46825050	3	3	134	1	0	0	0	0	1	0	0	0	7152	333	12	4	1224	4	HIF3A	19	46825050	Missense_Mutation	SNP	A	TCGA-US-A779-01A-11D-A32N-08	4929262	46825050	12303933	88	33311											
CNOT3	4849	broad.mit.edu	37	chr19	54646728	54646728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaagatggcggacaagcGcaaactccaaggtactagac	13	9	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:54646728G>A	ENST00000406403.1	+	1	1617	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	5					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGGACAAGCGCAAACTCCAA	0.527													False	0	False	19:54646728	0	A	54646728	G	A	54646728	3	1	134	1	0	0	0	0	1	0	0	0	3643	1087	38	1	16	1	CNOT3	19	54646728	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	7821678	54646728	4482255	89	33312											
LAIR1	3903	broad.mit.edu	37	chr19	54872775	54872775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctccccagggggatcaCggtgcctggctcagccgaga	15	13	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:54872775C>T	ENST00000391743.3	-	2	338	c.58G>A	c.(58-60)Gtg>Atg	p.V20M	LAIR1_ENST00000474878.1_Missense_Mutation_p.V37M|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000434277.2_Missense_Mutation_p.V37M|LAIR1_ENST00000391742.2_Missense_Mutation_p.V38M|LAIR1_ENST00000313038.6_Missense_Mutation_p.V31M|LAIR1_ENST00000348231.4_Missense_Mutation_p.V38M			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	38						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		AGGGGGATCACGGTGCCTGGC	0.582													False	0	False	19:54872775	0	T	54872775	C	T	54872775	3	4	134	1	0	0	0	0	1	0	0	0	8653	536	19	1	783	1	LAIR1	19	54872775	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	226047	54872775	4256208	90	33313											
BRSK1	84446	broad.mit.edu	37	chr19	55814225	55814225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggctgcatcgcgagctgCgcagtgaggagtaagacccc	15	11	0	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:55814225C>T	ENST00000309383.1	+	10	1295	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	BRSK1_ENST00000326848.7_Missense_Mutation_p.R35C|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356C|BRSK1_ENST00000585418.1_Missense_Mutation_p.R340C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	340	UBA.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCGCGAGCTGCGCAGTGAGGA	0.662													False	0	False	19:55814225	0	T	55814225	C	T	55814225	3	4	134	1	0	0	0	0	1	0	0	0	1530	768	27	1	1056	1	BRSK1	19	55814225	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	941450	55814225	3314758	91	33314											
NLRP8	126205	broad.mit.edu	37	chr19	56466799	56466799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtctgtgtcacttggccGcagacagcatgtggcacagg	14	10	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:56466799G>A	ENST00000291971.3	+	3	1446	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	459	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACTTGGCCGCAGACAGCAT	0.498													False	0	False	19:56466799	0	A	56466799	G	A	56466799	3	1	134	1	0	0	0	0	1	0	0	0	10551	1087	38	1	1385	1	NLRP8	19	56466799	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	652574	56466799	2662184	92	33315											
PCK1	5105	broad.mit.edu	37	chr20	56138146	56138146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcgcccacctgcctgacCgcagagagatcatctccttt	7	16	3	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:56138146C>T	ENST00000319441.4	+	5	837	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	PCK1_ENST00000535860.1_Missense_Mutation_p.R93C|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	225					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGCCTGACCGCAGAGAGAT	0.622													False	0	False	20:56138146	0	T	56138146	C	T	56138146	3	4	134	1	0	0	0	0	1	0	0	0	11649	652	23	1	687	1	PCK1	20	56138146	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08		56138146	6887374	93	33316											
ZNF831	128611	broad.mit.edu	37	chr20	57768280	57768280	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatcccctgcactgggtGgcagagacagtccctgttca	11	13	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:57768280G>C	ENST00000371030.2	+	1	2206	c.2206G>C	c.(2206-2208)Ggc>Cgc	p.G736R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	736						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCACTGGGTGGCAGAGACAG	0.627													False	0	False	20:57768280	0	C	57768280	G	C	57768280	3	2	134	1	0	0	0	0	1	0	0	0	18267	1348	47	5	2208	5	ZNF831	20	57768280	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	1630134	57768280	5257240	94	33317											
AIRE	326	broad.mit.edu	37	chr21	45710997	45710997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaatgaggacgagtgtgCcgtgtgtcgggacggcgggg	21	6	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr21:45710997C>T	ENST00000291582.5	+	8	1026	c.899C>T	c.(898-900)gCc>gTc	p.A300V	AIRE_ENST00000355347.4_Missense_Mutation_p.A93V|AIRE_ENST00000329347.4_Missense_Mutation_p.A93V	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	300					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	p.A103V(1)|p.A300V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GACGAGTGTGCCGTGTGTCGG	0.657									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				False	0	False	21:45710997	0	T	45710997	C	T	45710997	3	4	134	1	0	0	0	0	1	0	0	0	437	739	26	2	1217	2	AIRE	21	45710997	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08		45710997	2418898	95	33318											
ZC3H7B	23264	broad.mit.edu	37	chr22	41742053	41742053	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacggggataactgcaccttCgcctaccatcaggaggagat	11	11	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:41742053C>T	ENST00000352645.4	+	14	1763	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	ZC3H7B_ENST00000351589.4_Silent_p.F502F	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	518					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACTGCACCTTCGCCTACCATC	0.607													False	0	False	22:41742053	0	T	41742053	C	T	41742053	2	4	134	1	0	0	0	0	0	0	0	1	17656	883	31	1		1	ZC3H7B	22	41742053	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08		41742053	9562513	96	33319											
NHP2L1	4809	broad.mit.edu	37	chr22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagggcctgcttggagcGcacaaacacgtagggcacat	12	14	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577													False	0	False	22:42071074	0	A	42071074	G	A	42071074	3	1	134	1	0	0	0	0	1	0	0	0	10478	1087	38	1	140	1	NHP2L1	22	42071074	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	329021	42071074	9233492	97	33320											
PLXNB2	23654	broad.mit.edu	37	chr22	50716129	50716129	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcacgtcaaagatgaagtggGggttcttgaggatgttcacc	14	7	3	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:50716129G>C	ENST00000449103.1	-	33	5227	c.5087C>G	c.(5086-5088)cCc>cGc	p.P1696R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1696R			O15031	PLXB2_HUMAN	plexin B2	1696					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GATGAAGTGGGGGTTCTTGAG	0.627													False	0	True	22:50716129	0	C	50716129	G	C	50716129	3	2	134	1	0	0	0	0	1	0	0	0	12193	1232	43	5	449	5	PLXNB2	22	50716129	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	8645055	50716129	588437	98	33321											
CPT1B	1375	broad.mit.edu	37	chr22	51015372	51015372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagcttcagggtttggcGgaagaagaagatgcccgtca	14	8	2	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:51015372G>A	ENST00000360719.2	-	4	510	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	CPT1B_ENST00000312108.7_Missense_Mutation_p.R125C|CPT1B_ENST00000434492.2_5'UTR|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.R125C|CPT1B_ENST00000457250.1_Missense_Mutation_p.R125C|CPT1B_ENST00000395650.2_Missense_Mutation_p.R125C|CPT1B_ENST00000405237.3_Missense_Mutation_p.R125C	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	125					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AGGGTTTGGCGGAAGAAGAAG	0.587											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	22:51015372	0	A	51015372	G	A	51015372	3	1	134	1	0	0	0	0	1	0	0	0	3855	1116	39	1	2009	1	CPT1B	22	51015372	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	299243	51015372	289194	99	33322											
SCML1	6322	broad.mit.edu	37	chrX	17770059	17770059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatcctcttgcattatgCcctcttgtcgacctcttcag	6	14	4	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:17770059C>T	ENST00000380043.3	+	6	1075	c.747C>T	c.(745-747)tgC>tgT	p.C249C	SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448													False	0	True	X:17770059	0	T	17770059	C	T	17770059	2	4	134	1	0	0	0	0	0	0	0	1	13990	747	26	2		2	SCML1	23	17770059	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08		17770059	137500501	100	33323											
BEND2	139105	broad.mit.edu	37	chrX	18183254	18183254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtcatgtctaaggctacGgataccgctgttgatggagg	14	8	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:18183254G>A	ENST00000380033.4	-	14	2407	c.2275C>T	c.(2275-2277)Cgt>Tgt	p.R759C		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	759	BEN 2.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTAAGGCTACGGATACCGCTG	0.517													False	0	False	X:18183254	0	A	18183254	G	A	18183254	3	1	134	1	0	0	0	0	1	0	0	0	1402	1116	39	1	128	1	BEND2	23	18183254	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	413195	18183254	137087306	101	33324											
KDM6A	7403	broad.mit.edu	37	chrX	44929370	44929371	+	Frame_Shift_Ins	INS	-	-	C													ttcaccatcttcagccatttINScaacagcaacaccttctcca							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:44929370_44929371insC	ENST00000377967.4	+	17	2511_2512	c.2470_2471insC	c.(2470-2472)tcafs	p.S824fs	KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.S831fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.S779fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.S745fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	824					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCAGCCATTTCAACAGCAACA	0.45			"D, N, F, S"		"renal, oesophageal SCC, MM"								False	1	True	X:44929370	0	C	44929371	-	C	44929370	7	5	134	1	0	1	1	0	0	0	0	0	8187	1783	62	0	2536	0	KDM6A	23	44929370	Frame_Shift_Ins	INS	-	TCGA-US-A779-01A-11D-A32N-08	26746116	44929370	110341190	102	33325											
USP51	158880	broad.mit.edu	37	chrX	55515068	55515068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccgagggcggggcttgCggcgcgggcaaacgggcgag	24	10	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:55515068C>T	ENST00000500968.3	-	2	387	c.305G>A	c.(304-306)cGc>cAc	p.R102H	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	102	Pro-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						gcggggCTTGCGGCGCGGGCA	0.761													False	0	False	X:55515068	0	T	55515068	C	T	55515068	3	4	134	1	0	0	0	0	1	0	0	0	17167	768	27	1	1834	1	USP51	23	55515068	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	10585698	55515068	99755492	103	33326											
TAF1	6872	broad.mit.edu	37	chrX	70603864	70603864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagagatgttttttatgcGcacacctcaggacctcacag	10	10	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:70603864G>A	ENST00000449580.1	+	13	2048	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H	TAF1_ENST00000423759.1_Missense_Mutation_p.R687H|TAF1_ENST00000373790.4_Missense_Mutation_p.R666H|TAF1_ENST00000276072.3_Missense_Mutation_p.R687H			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	666					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTTTTTATGCGCACACCTCAG	0.453													False	0	False	X:70603864	0	A	70603864	G	A	70603864	3	1	134	1	0	0	0	0	1	0	0	0	15595	1087	38	1	2110	1	TAF1	23	70603864	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	15088796	70603864	84666696	104	33327											
ALG13	79868	broad.mit.edu	37	chrX	110980099	110980099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatctccacctacacacgGcaggccaggtaggttattag	10	11	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:110980099G>A	ENST00000394780.3	+	23	2699	c.2687G>A	c.(2686-2688)gGc>gAc	p.G896D	ALG13_ENST00000251943.4_Missense_Mutation_p.G792D|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	896	Pro-rich.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CCTACACACGGCAGGCCAGGT	0.433													False	0	False	X:110980099	0	A	110980099	G	A	110980099	3	1	134	1	0	0	0	0	1	0	0	0	515	1203	42	2	2919	2	ALG13	23	110980099	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	40376235	110980099	44290461	105	33328											
GABRD	2563	broad.mit.edu	37	chr1	1961076	1961076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccatcaaggcactggacGtctacttctggatctgctat	9	12	4	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:1961076G>A	ENST00000378585.4	+	8	1017	c.934G>A	c.(934-936)Gtc>Atc	p.V312I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	312						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGCACTGGACGTCTACTTCTG	0.592													False	0	False	1:1961076	0	A	1961076	G	A	1961076	3	1	135	1	0	0	0	0	1	0	0	0	6211	1145	40	1	964	1	GABRD	1	1961076	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		1961076	247289545	1	33329											
CELA3A	10136	broad.mit.edu	37	chr1	22329556	22329556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgtccatggtgaggatgCggtcccctacagctggccct	13	13	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:22329556C>T	ENST00000290122.3	+	2	123	c.104C>T	c.(103-105)gCg>gTg	p.A35V	CELA3A_ENST00000374663.1_Missense_Mutation_p.A35V	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A									p.A35V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGTGAGGATGCGGTCCCCTAC	0.612													False	0	False	1:22329556	0	T	22329556	C	T	22329556	3	4	135	1	0	0	0	0	1	0	0	0	3236	768	27	1	110	1	CELA3A	1	22329556	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	20368480	22329556	226921065	2	33330											
PTCH2	8643	broad.mit.edu	37	chr1	45294946	45294946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggaaccctgggactgggcGcagtcccaccgcagcatggt	14	14	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:45294946G>A	ENST00000447098.2	-	10	1265	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	PTCH2_ENST00000372192.3_Silent_p.C418C	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	418	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGGACTGGGCGCAGTCCCACC	0.687									Basal Cell Nevus syndrome				False	0	False	1:45294946	0	A	45294946	G	A	45294946	2	1	135	1	0	0	0	0	0	0	0	1	12807	1079	38	1		1	PTCH2	1	45294946	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	22965390	45294946	203955675	3	33331											
AMPD2	271	broad.mit.edu	37	chr1	110172946	110172946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcctcagctatcaccGgaatccgctaccggagtacc	7	17	3	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:110172946G>A	ENST00000256578.3	+	16	2597	c.2237G>A	c.(2236-2238)cGg>cAg	p.R746Q	AMPD2_ENST00000528454.1_Missense_Mutation_p.R628Q|AMPD2_ENST00000393688.3_Missense_Mutation_p.R627Q|AMPD2_ENST00000528667.1_Missense_Mutation_p.R746Q|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000342115.4_Missense_Mutation_p.R665Q|AMPD2_ENST00000358729.4_Missense_Mutation_p.R671Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	746					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCTATCACCGGAATCCGCTA	0.612													False	0	False	1:110172946	0	A	110172946	G	A	110172946	3	1	135	1	0	0	0	0	1	0	0	0	586	1116	39	1	2340	1	AMPD2	1	110172946	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	64878000	110172946	139077675	4	33332											
NES	10763	broad.mit.edu	37	chr1	156639754	156639754	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctcatctgcaaacccatcgGactccccatctcgatcccag	5	19	3	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:156639754G>T	ENST00000368223.3	-	4	4358	c.4226C>A	c.(4225-4227)tCc>tAc	p.S1409Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1409	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAACCCATCGGACTCCCCATC	0.647													False	0	False	1:156639754	0	T	156639754	G	T	156639754	3	4	135	1	0	0	0	0	1	0	0	0	10405	1174	41	3	643	3	NES	1	156639754	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	46466808	156639754	92610867	5	33333											
CNIH3	149111	broad.mit.edu	37	chr1	224868727	224868727	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcaatcctgttcatgCggtaagtggcgggtactggt	14	9	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:224868727C>T	ENST00000272133.3	+	2	1031	c.149C>T	c.(148-150)gCg>gTg	p.A50V		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	50					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CCTGTTCATGCGGTAAGTGGC	0.473													False	0	False	1:224868727	0	T	224868727	C	T	224868727	5	4	135	1	0	0	0	0	0	0	1	0	3627	782	27	1	155	1	CNIH3	1	224868727	Splice_Site	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	68228973	224868727	24381894	6	33334											
ITSN2	50618	broad.mit.edu	37	chr2	24531532	24531532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagagtattaaatttttgCcgatattttaatcttgtagg	7	4	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:24531532C>T	ENST00000355123.4	-	8	1190	c.747G>A	c.(745-747)cgG>cgA	p.R249R	ITSN2_ENST00000361999.3_Silent_p.R249R|ITSN2_ENST00000406921.3_Silent_p.R249R	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	249	EH 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAATTTTTGCCGATATTTTA	0.428													False	0	False	2:24531532	0	T	24531532	C	T	24531532	2	4	135	1	0	0	0	0	0	0	0	1	7977	726	26	2		2	ITSN2	2	24531532	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08		24531532	218667841	7	33335											
POMC	5443	broad.mit.edu	37	chr2	25384178	25384178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgtcatcggcagggccGtcggggccatctccctcccg	14	18	2	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:25384178G>A	ENST00000405623.1	-	3	1031	c.576C>T	c.(574-576)gaC>gaT	p.D192D	POMC_ENST00000380794.1_Silent_p.D192D|POMC_ENST00000395826.2_Silent_p.D192D|POMC_ENST00000264708.3_Silent_p.D192D			P01189	COLI_HUMAN	proopiomelanocortin	192					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CGGCAGGGCCGTCGGGGCCAT	0.697													False	0	False	2:25384178	0	A	25384178	G	A	25384178	2	1	135	1	0	0	0	0	0	0	0	1	12311	1136	40	1		1	POMC	2	25384178	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	852646	25384178	217815195	8	33336											
FAM98A	25940	broad.mit.edu	37	chr2	33810734	33810734	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagactgaacgtttcggctGgtaaaccttggctaattttt	9	7	0	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:33810734G>A	ENST00000403368.1	-	7	820	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	FAM98A_ENST00000441530.2_Nonsense_Mutation_p.Q56*|FAM98A_ENST00000238823.8_Nonsense_Mutation_p.Q251*	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	252										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CGTTTCGGCTGGTAAACCTTG	0.373													False	0	False	2:33810734	0	A	33810734	G	A	33810734	4	1	135	1	0	0	0	0	0	1	0	0	5696	1357	47	2	813	2	FAM98A	2	33810734	Nonsense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	8426556	33810734	209388639	9	33337											
NRXN1	9378	broad.mit.edu	37	chr2	50765563	50765563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgaacttcagccatttgCcggatatctttgctttggcc	8	11	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:50765563C>T	ENST00000404971.1	-	11	3430	c.2091G>A	c.(2089-2091)cgG>cgA	p.R697R	NRXN1_ENST00000405472.3_Silent_p.R649R|NRXN1_ENST00000402717.3_Silent_p.R649R|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.R657R|NRXN1_ENST00000406859.3_Silent_p.R657R|NRXN1_ENST00000401669.2_Silent_p.R657R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	657	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAGCCATTTGCCGGATATCTT	0.502													False	0	False	2:50765563	0	T	50765563	C	T	50765563	2	4	135	1	0	0	0	0	0	0	0	1	10733	726	26	2		2	NRXN1	2	50765563	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	16954829	50765563	192433810	10	33338											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	135	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-US-A77E-01A-11D-A32N-08	47081802	97847365	145352008	11	33339											
ST6GAL2	84620	broad.mit.edu	37	chr2	107450522	107450522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcgaattaatgatgcGtatggtggttttattcccaa	9	7	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:107450522G>A	ENST00000409382.3	-	3	1634	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R342C|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R342C	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	342					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R342C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTAATGATGCGTATGGTGGTT	0.393													False	0	False	2:107450522	0	A	107450522	G	A	107450522	3	1	135	1	0	0	0	0	1	0	0	0	15304	1145	40	1	668	1	ST6GAL2	2	107450522	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	9603157	107450522	135748851	12	33340											
POLR1B	84172	broad.mit.edu	37	chr2	113322044	113322044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtggataaggatcttgctCcaggcatcgcagattctctt	12	9	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:113322044C>T	ENST00000263331.5	+	10	2294	c.1714C>T	c.(1714-1716)Cca>Tca	p.P572S	POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Missense_Mutation_p.P361S|POLR1B_ENST00000417433.2_Missense_Mutation_p.P516S|POLR1B_ENST00000541869.1_Missense_Mutation_p.P610S	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	572					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGATCTTGCTCCAGGCATCGC	0.498													False	0	False	2:113322044	0	T	113322044	C	T	113322044	3	4	135	1	0	0	0	0	1	0	0	0	12279	855	30	2	1752	2	POLR1B	2	113322044	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	5871522	113322044	129877329	13	33341											
ZEB2	9839	broad.mit.edu	37	chr2	145162490	145162490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataatggctgtgtcactgcGctgaaggtactcctcgatgc	11	10	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:145162490G>A	ENST00000558170.2	-	5	1689	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	ZEB2_ENST00000409487.3_Missense_Mutation_p.R169C|ZEB2_ENST00000539609.3_Missense_Mutation_p.R145C|ZEB2_ENST00000303660.4_Missense_Mutation_p.R169C	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	169						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGTCACTGCGCTGAAGGTAC	0.493													False	0	False	2:145162490	0	A	145162490	G	A	145162490	3	1	135	1	0	0	0	0	1	0	0	0	17707	1087	38	1	3163	1	ZEB2	2	145162490	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	31840446	145162490	98036883	14	33342											
TTN	7273	broad.mit.edu	37	chr2	179466769	179466769	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccatcaaattcccaagatGattttggtgttgggcgtccc	9	10	1	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:179466769G>A	ENST00000589042.1	-	284	55453	c.55229C>T	c.(55228-55230)tCa>tTa	p.S18410L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S9537L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S15842L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S16769L|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S9470L|TTN_ENST00000460472.2_Missense_Mutation_p.S9345L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16769	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCCAAGATGATTTTGGTGT	0.403													False	0	False	2:179466769	0	A	179466769	G	A	179466769	3	1	135	1	0	0	0	0	1	0	0	0	16819	1294	45	2	52780	2	TTN	2	179466769	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	34304279	179466769	63732604	15	33343											
COL5A2	1290	broad.mit.edu	37	chr2	189929337	189929337	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggatccccctggcttccTttgggtcctgaagaacctac	9	15	0	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:189929337T>C	ENST00000374866.3	-	25	1936	c.1662A>G	c.(1660-1662)aaA>aaG	p.K554K		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	554					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTGGCTTCCTTTGGGTCCTG	0.507													False	0	True	2:189929337	0	C	189929337	T	C	189929337	2	2	135	1	0	0	0	0	0	0	0	1	3720	1606	56	4		4	COL5A2	2	189929337	Silent	SNP	T	TCGA-US-A77E-01A-11D-A32N-08	10462568	189929337	53270036	16	33344											
DOCK10	55619	broad.mit.edu	37	chr2	225651759	225651759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcccataaaatgccacacGatagtagcgaccaaacagcc	7	14	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:225651759G>A	ENST00000409592.3	-	50	5730	c.5617C>T	c.(5617-5619)Cgt>Tgt	p.R1873C	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1879C			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1879	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AATGCCACACGATAGTAGCGA	0.433													False	0	False	2:225651759	0	A	225651759	G	A	225651759	3	1	135	1	0	0	0	0	1	0	0	0	4715	1058	37	1	953	1	DOCK10	2	225651759	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	35722422	225651759	17547614	17	33345											
C2orf54	79919	broad.mit.edu	37	chr2	241827790	241827790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggagcgccttgagcccGgagccgatgcgcggcggggg	20	12	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:241827790G>A	ENST00000307486.8	-	4	821	c.723C>T	c.(721-723)tcC>tcT	p.S241S	C2orf54_ENST00000388934.4_Silent_p.S390S|C2orf54_ENST00000402775.2_Silent_p.S222S	NM_001282921.1	NP_001269850.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	390										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCTTGAGCCCGGAGCCGATGC	0.721													False	0	True	2:241827790	0	A	241827790	G	A	241827790	2	1	135	1	0	0	0	0	0	0	0	1	2191	1103	39	1		1	C2orf54	2	241827790	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	16176031	241827790	1371583	18	33346											
FBLN2	2199	broad.mit.edu	37	chr3	13672892	13672892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgtctcaacgtgccagGgagctaccagtgtgcatgcc	12	14	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:13672892G>A	ENST00000404922.3	+	16	3268	c.3149G>A	c.(3148-3150)gGg>gAg	p.G1050E	FBLN2_ENST00000295760.7_Missense_Mutation_p.G1003E|FBLN2_ENST00000492059.1_Missense_Mutation_p.G1050E|FBLN2_ENST00000535798.1_Missense_Mutation_p.G1029E	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1033	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACGTGCCAGGGAGCTACCAG	0.637													False	0	True	3:13672892	0	A	13672892	G	A	13672892	3	1	135	1	0	0	0	0	1	0	0	0	5739	1232	43	2	1897	2	FBLN2	3	13672892	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		13672892	184349538	19	33347											
ALS2CL	259173	broad.mit.edu	37	chr3	46729748	46729748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagctgttgcaagagccGcaggcactctctgccccagg	13	14	1	1	rs143519761		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:46729748G>A	ENST00000318962.4	-	3	225	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R48W	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	48					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAAGAGCCGCAGGCACTCT	0.612													False	0	False	3:46729748	0	A	46729748	G	A	46729748	3	1	135	1	0	0	0	0	1	0	0	0	551	1086	38	1	2815	1	ALS2CL	3	46729748	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	33056856	46729748	151292682	20	33348											
DNAH1	25981	broad.mit.edu	37	chr3	52392752	52392752	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatcagggcctaccccaCggtgagccgcccgcagcccg	13	19	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:52392752C>T	ENST00000420323.2	+	25	4526	c.4265C>T	c.(4264-4266)aCg>aTg	p.T1422M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1422	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTACCCCACGGTGAGCCGC	0.672													False	0	False	3:52392752	0	T	52392752	C	T	52392752	5	4	135	1	0	0	0	0	0	0	1	0	4627	550	19	1	4359	1	DNAH1	3	52392752	Splice_Site	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	5663004	52392752	145629678	21	33349											
PROS1	5627	broad.mit.edu	37	chr3	93611912	93611912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgatcgatagattctgcGtacagtatcacgccttctga	10	9	3	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:93611912G>A	ENST00000394236.3	-	10	1336	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y	PROS1_ENST00000407433.1_Silent_p.Y209Y	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	340	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TAGATTCTGCGTACAGTATCA	0.393													False	0	False	3:93611912	0	A	93611912	G	A	93611912	2	1	135	1	0	0	0	0	0	0	0	1	12634	1140	40	1		1	PROS1	3	93611912	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	41219160	93611912	104410518	22	33350											
OR5H1	26341	broad.mit.edu	37	chr3	97852400	97852400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatcattcctttgttaaatCctatcatctacagtctgaga	4	10	5	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:97852400C>T	ENST00000354565.2	+	1	859	c.859C>T	c.(859-861)Cct>Tct	p.P287S	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TTTGTTAAATCCTATCATCTA	0.363													False	0	False	3:97852400	0	T	97852400	C	T	97852400	3	4	135	1	0	0	0	0	1	0	0	0	11227	855	30	2	861	2	OR5H1	3	97852400	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	4240488	97852400	100170030	23	33351											
PVRL3	25945	broad.mit.edu	37	chr3	110852707	110852707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctgctataggagaagacGgacgtttcgtggagactact	12	7	1	3	rs15611	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:110852707G>A	ENST00000485303.1	+	6	1570	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	432			R -> L (in dbSNP:rs15611).		adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AGGAGAAGACGGACGTTTCGT	0.413													False	0	True	3:110852707	0	A	110852707	G	A	110852707	3	1	135	1	0	0	0	0	1	0	0	0	12920	1116	39	1	1317	1	PVRL3	3	110852707	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	13000307	110852707	87169723	24	33352											
ATP2C1	27032	broad.mit.edu	37	chr3	130718462	130718462	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actagttatttactttcctcCgcttcagaaggtttttcaga	6	9	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:130718462C>G	ENST00000510168.1	+	27	3138	c.2588C>G	c.(2587-2589)cCg>cGg	p.P863R	ATP2C1_ENST00000328560.8_Missense_Mutation_p.P863R|ATP2C1_ENST00000507488.2_Missense_Mutation_p.P847R|ATP2C1_ENST00000422190.2_Missense_Mutation_p.P863R|ATP2C1_ENST00000513801.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000393221.4_Missense_Mutation_p.P897R|ATP2C1_ENST00000504381.1_Missense_Mutation_p.P808R|ATP2C1_ENST00000428331.2_Missense_Mutation_p.P863R|ATP2C1_ENST00000508532.1_Missense_Mutation_p.P863R|ATP2C1_ENST00000505330.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000533801.2_Missense_Mutation_p.P858R|ATP2C1_ENST00000359644.3_Missense_Mutation_p.P863R|ATP2C1_ENST00000504948.1_Missense_Mutation_p.P847R			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	863					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TACTTTCCTCCGCTTCAGAAG	0.343									Hailey-Hailey disease				False	0	False	3:130718462	0	G	130718462	C	G	130718462	3	3	135	1	0	0	0	0	1	0	0	0	1147	652	23	5	2690	5	ATP2C1	3	130718462	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	19865755	130718462	67303968	25	33353											
DNAJC13	23317	broad.mit.edu	37	chr3	132175223	132175223	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagtagagagccttcacctCaggttcttagctacgcctcc	9	13	3	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:132175223C>A	ENST00000260818.6	+	10	1325	c.1077C>A	c.(1075-1077)ctC>ctA	p.L359L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	359							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCCTTCACCTCAGGTTCTTAG	0.378													False	0	False	3:132175223	0	A	132175223	C	A	132175223	2	1	135	1	0	0	0	0	0	0	0	1	4662	813	29	3		3	DNAJC13	3	132175223	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	1456761	132175223	65847207	26	33354											
CPA3	1359	broad.mit.edu	37	chr3	148599357	148599357	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgaccaaactcttggacCgaatgaatttttacattctt	5	8	2	2	rs141357361	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:148599357C>T	ENST00000296046.3	+	7	677	c.625C>T	c.(625-627)Cga>Tga	p.R209*	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	209					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.R209R(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACTCTTGGACCGAATGAATTT	0.343													False	0	True	3:148599357	0	T	148599357	C	T	148599357	4	4	135	1	0	0	0	0	0	1	0	0	3814	644	23	1	651	1	CPA3	3	148599357	Nonsense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	16424134	148599357	49423073	27	33355											
GBA3	57733	broad.mit.edu	37	chr4	22749669	22749669	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaaatgtggattggaTctacgtggtaccatggggag	15	4	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:22749669T>G	ENST00000511446.2	+	0	1041				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGGATTGGATCTACGTGGTA	0.383													False	0	True	4:22749669	0	G	22749669	T	G	22749669	1	3	135	0	1	0	0	0	0	0	0	0	6311	1435	50	4		4	GBA3	4	22749669	RNA	SNP	T	TCGA-US-A77E-01A-11D-A32N-08		22749669	168404607	28	33356											
ATOH1	474	broad.mit.edu	37	chr4	94750654	94750656	+	In_Frame_Del	DEL	AAG	AAG	-													tcccgtcgttcaacaacgacAagaagctgtccaaatatgag							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:94750654_94750656delAAG	ENST00000306011.3	+	1	613_615	c.577_579delAAG	c.(577-579)aagdel	p.K194del		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	194	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CAACAACGACAAGAAGCTGTCCA	0.596													False	2	False	4:94750654	0	-	94750656	AAG	-	94750654	7	5	135	1	0	1	0	1	0	0	0	0	1116	131	5	0	579	0	ATOH1	4	94750654	In_Frame_Del	DEL	AAG	TCGA-US-A77E-01A-11D-A32N-08	72000985	94750654	96403622	29	33357											
TBC1D9	23158	broad.mit.edu	37	chr4	141622724	141622724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcggtaaggagcgacccGggcgctggagtccaacacaa	14	11	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:141622724G>A	ENST00000442267.2	-	2	249	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	59						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGAGCGACCCGGGCGCTGGAG	0.517													False	0	True	4:141622724	0	A	141622724	G	A	141622724	3	1	135	1	0	0	0	0	1	0	0	0	15709	1115	39	1	3705	1	TBC1D9	4	141622724	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	46872070	141622724	49531552	30	33358											
C7	730	broad.mit.edu	37	chr5	40981607	40981607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgagtgtgaggcgggcGctctgagatgcagagggcag	19	7	2	4			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:40981607G>A	ENST00000313164.9	+	18	2823	c.2464G>A	c.(2464-2466)Gct>Act	p.A822T		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	822	Complement control factor I module 2.			GA -> AL (in Ref. 3).	complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TGAGGCGGGCGCTCTGAGATG	0.567													False	0	True	5:40981607	0	A	40981607	G	A	40981607	3	1	135	1	0	0	0	0	1	0	0	0	2394	1087	38	1	2534	1	C7	5	40981607	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		40981607	139933653	31	33359											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	135	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-US-A77E-01A-11D-A32N-08	37628837	78610444	102304816	32	33360											
VCAN	1462	broad.mit.edu	37	chr5	82876174	82876174	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaatactttaaaaattcctCatcagcaaaggacaattcaa	4	8	3	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:82876174C>T	ENST00000265077.3	+	15	10677	c.10112C>T	c.(10111-10113)tCa>tTa	p.S3371L	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Missense_Mutation_p.S1617L|VCAN_ENST00000343200.5_Missense_Mutation_p.S2384L|VCAN_ENST00000512590.2_Missense_Mutation_p.S1569L|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.S630L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3371					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAAATTCCTCATCAGCAAAG	0.393													False	0	False	5:82876174	0	T	82876174	C	T	82876174	3	4	135	1	0	0	0	0	1	0	0	0	17222	838	29	2	10166	2	VCAN	5	82876174	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	4265730	82876174	98039086	33	33361											
PCDHA5	0	broad.mit.edu	37	chr5	140201497	140201497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggaaccttcgttggccGcatcgcgcaggacctagggc	13	14	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:140201497G>A	ENST00000529859.1	+	1	137	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R46H|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R46H	NM_018908.2	NP_061731.1												p.R46H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTTGGCCGCATCGCGCAG	0.657													False	0	False	5:140201497	0	A	140201497	G	A	140201497	3	1	135	1	0	0	0	0	1	0	0	0	11595	1087	38	1	139	1	PCDHA5	5	140201497	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	57325323	140201497	40713763	34	33362											
FOXI1	2299	broad.mit.edu	37	chr5	169533243	169533243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctatggagtgcagaggccGctgctgcccagcgtgtcggg	17	12	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:169533243G>A	ENST00000449804.2	+	1	327	c.282G>A	c.(280-282)ccG>ccA	p.P94P	FOXI1_ENST00000306268.6_Silent_p.P94P	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	94	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCAGAGGCCGCTGCTGCCCA	0.697									Pendred syndrome				False	0	False	5:169533243	0	A	169533243	G	A	169533243	2	1	135	1	0	0	0	0	0	0	0	1	6051	1074	38	1		1	FOXI1	5	169533243	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	29331746	169533243	11382017	35	33363											
STC2	8614	broad.mit.edu	37	chr5	172744926	172744926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtccctgagccccaaggCccccgactctgcctcgggca	11	18	1	1	rs145310530		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:172744926C>T	ENST00000265087.4	-	4	2142	c.833G>A	c.(832-834)gGc>gAc	p.G278D		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	278					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGCCCCAAGGCCCCCGACTCT	0.612													False	0	True	5:172744926	0	T	172744926	C	T	172744926	3	4	135	1	0	0	0	0	1	0	0	0	15358	739	26	2	79	2	STC2	5	172744926	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	3211683	172744926	8170334	36	33364											
PHACTR1	221692	broad.mit.edu	37	chr6	13206098	13206098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtgaaactgtcgcctcCgctacctccaaagaaagtca	8	14	1	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:13206098C>T	ENST00000379350.1	+	7	845	c.716C>T	c.(715-717)cCg>cTg	p.P239L	PHACTR1_ENST00000457702.2_Missense_Mutation_p.P94L|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P239L			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	239						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTGTCGCCTCCGCTACCTCCA	0.587													False	0	False	6:13206098	0	T	13206098	C	T	13206098	3	4	135	1	0	0	0	0	1	0	0	0	11878	652	23	1	738	1	PHACTR1	6	13206098	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08		13206098	157908969	37	33365											
NUP153	9972	broad.mit.edu	37	chr6	17706578	17706578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgccgcgtccggatcttgCcgccaccgccccctccgact	9	21	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:17706578C>T	ENST00000262077.2	-	1	40	c.41G>A	c.(40-42)gGc>gAc	p.G14D	NUP153_ENST00000537253.1_Missense_Mutation_p.G14D|RP11-500C11.3_ENST00000606771.1_RNA	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	14	Gly-rich.				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CCGGATCTTGCCGCCACCGCC	0.726													False	0	False	6:17706578	0	T	17706578	C	T	17706578	3	4	135	1	0	0	0	0	1	0	0	0	10823	739	26	2	4474	2	NUP153	6	17706578	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	4500480	17706578	153408489	38	33366											
TNXB	7148	broad.mit.edu	37	chr6	32046862	32046862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcccctcgtggaggccGtacaggtgcatcttgtactt	12	13	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:32046862G>A	ENST00000375244.3	-	11	4524	c.4323C>T	c.(4321-4323)taC>taT	p.Y1441Y	TNXB_ENST00000375247.2_Silent_p.Y1441Y			P22105	TENX_HUMAN	tenascin XB	1528					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGTGGAGGCCGTACAGGTGCA	0.697													False	0	False	6:32046862	0	A	32046862	G	A	32046862	2	1	135	1	0	0	0	0	0	0	0	1	16428	1140	40	1		1	TNXB	6	32046862	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	14340284	32046862	139068205	39	33367											
DST	667	broad.mit.edu	37	chr6	56492887	56492887	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagtttcaacctgctggatCcaatcatctaaaggatggta	9	8	3	0	rs149154059		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:56492887C>T	ENST00000370754.5	-	32	4448	c.4449G>A	c.(4447-4449)tgG>tgA	p.W1483*	DST_ENST00000421834.2_Nonsense_Mutation_p.W1305*|DST_ENST00000244364.6_Nonsense_Mutation_p.W979*|DST_ENST00000361203.3_Nonsense_Mutation_p.W1305*|DST_ENST00000518935.1_Nonsense_Mutation_p.W979*|DST_ENST00000370769.4_Nonsense_Mutation_p.W1305*|DST_ENST00000312431.6_Nonsense_Mutation_p.W1305*|DST_ENST00000370765.6_Nonsense_Mutation_p.W979*|DST_ENST00000446842.2_Nonsense_Mutation_p.W979*|DST_ENST00000370788.2_Nonsense_Mutation_p.W1305*			Q03001	DYST_HUMAN	dystonin	1305					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTGCTGGATCCAATCATCTA	0.403													False	0	False	6:56492887	0	T	56492887	C	T	56492887	4	4	135	1	0	0	0	0	0	1	0	0	4813	856	30	2	17482	2	DST	6	56492887	Nonsense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	24446025	56492887	114622180	40	33368											
COL12A1	1303	broad.mit.edu	37	chr6	75901461	75901461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttctccactggctttgtcGaactacctgtttgaactaag	7	11	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:75901461G>A	ENST00000322507.8	-	5	659	c.350C>T	c.(349-351)tCg>tTg	p.S117L	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.S117L|COL12A1_ENST00000416123.2_Missense_Mutation_p.S117L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	117					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGGCTTTGTCGAACTACCTGT	0.299													False	0	False	6:75901461	0	A	75901461	G	A	75901461	3	1	135	1	0	0	0	0	1	0	0	0	3692	1059	37	1	9089	1	COL12A1	6	75901461	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	19408574	75901461	95213606	41	33369											
SERINC1	57515	broad.mit.edu	37	chr6	122773086	122773086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaacgcagaggagcatgtTgacactgatgaacgccttgt	11	10	0	4			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:122773086T>C	ENST00000339697.4	-	6	790	c.706A>G	c.(706-708)Aac>Gac	p.N236D		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1						phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AGGAGCATGTTGACACTGATG	0.393													False	0	False	6:122773086	0	C	122773086	T	C	122773086	3	2	135	1	0	0	0	0	1	0	0	0	14160	1812	63	4	675	4	SERINC1	6	122773086	Missense_Mutation	SNP	T	TCGA-US-A77E-01A-11D-A32N-08	46871625	122773086	48341981	42	33370											
TRDN	10345	broad.mit.edu	37	chr6	123539785	123539785	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctggagaatttgcttgAccagagctctctccagggcg	12	11	1	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:123539785A>G	ENST00000334268.4	-	40	2444	c.2127T>C	c.(2125-2127)ggT>ggC	p.G709G	TRDN_ENST00000398178.3_Silent_p.G717G			Q13061	TRDN_HUMAN	triadin	717					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AATTTGCTTGACCAGAGCTCT	0.438													False	0	False	6:123539785	0	G	123539785	A	G	123539785	2	3	135	1	0	0	0	0	0	0	0	1	16551	262	10	4		4	TRDN	6	123539785	Silent	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	766699	123539785	47575282	43	33371											
UTRN	7402	broad.mit.edu	37	chr6	144747514	144747515	+	In_Frame_Ins	INS	-	-	TGT													gtgcgtcagaccaccaggccINSctacagccaagtcaacgtcc							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:144747514_144747515insTGT	ENST00000367545.3	+	6	497_498	c.497_498insTGT	c.(496-501)ccctac>ccTGTctac	p.166_167PY>PVY		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	166	Actin-binding.|CH 2.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACCACCAGGCCCTACAGCCAAG	0.51													False	0	True	6:144747514	0	TGT	144747515	-	TGT	144747514	7	5	135	1	0	1	1	0	0	0	0	0	17187	623	22	0	519	0	UTRN	6	144747514	In_Frame_Ins	INS	-	TCGA-US-A77E-01A-11D-A32N-08	21207729	144747514	26367553	44	33372	384	2									
UTRN	7402	broad.mit.edu	37	chr6	144747515	144747516	+	Frame_Shift_Ins	INS	-	-	CATAACTAATACTTCAGTAATT													tgcgtcagaccaccaggcccINStacagccaagtcaacgtcct							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:144747515_144747516insCATAACTAATACTTCAGTAATT	ENST00000367545.3	+	6	498_499	c.498_499insCATAACTAATACTTCAGTAATT	c.(499-501)tacfs	p.Y167fs		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	167	Actin-binding.|CH 2.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCACCAGGCCCTACAGCCAAGT	0.51													False	0	True	6:144747515	0	CATAACTAATACTTCAGTAATT	144747516	-	CATAACTAATACTTCAGTAATT	144747515	7	5	135	1	0	1	1	0	0	0	0	0	17187	668	24	0	520	0	UTRN	6	144747515	Frame_Shift_Ins	INS	-	TCGA-US-A77E-01A-11D-A32N-08	1	144747515	26367552	45	33373	384	2									
CARD11	84433	broad.mit.edu	37	chr7	2984085	2984085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccagcagctcgcagcGttgcaggtccttggccttca	12	15	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:2984085G>A	ENST00000396946.4	-	5	848	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	149					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCTCGCAGCGTTGCAGGTCC	0.607			Mis		DLBCL								False	0	False	7:2984085	0	A	2984085	G	A	2984085	3	1	135	1	0	0	0	0	1	0	0	0	2665	1145	40	1	3103	1	CARD11	7	2984085	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		2984085	156154578	46	33374											
OSBPL3	26031	broad.mit.edu	37	chr7	24846473	24846473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttcatttaattccagcGcaaactgtgtgaagctatag	7	9	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:24846473G>A	ENST00000313367.2	-	21	2817	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	OSBPL3_ENST00000396429.1_Missense_Mutation_p.A753V|OSBPL3_ENST00000409069.1_Missense_Mutation_p.A722V|OSBPL3_ENST00000431825.2_Missense_Mutation_p.A722V|OSBPL3_ENST00000353930.1_Missense_Mutation_p.A753V|OSBPL3_ENST00000352860.1_Missense_Mutation_p.A758V|OSBPL3_ENST00000396431.1_Missense_Mutation_p.A758V|OSBPL3_ENST00000487020.1_Intron	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	789					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TAATTCCAGCGCAAACTGTGT	0.373													False	0	False	7:24846473	0	A	24846473	G	A	24846473	3	1	135	1	0	0	0	0	1	0	0	0	11347	1087	38	1	309	1	OSBPL3	7	24846473	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	21862388	24846473	134292190	47	33375											
TECPR1	25851	broad.mit.edu	37	chr7	97858456	97858456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccaccatccgcaggtGgcctcccatctgccgccaaa	9	19	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:97858456G>T	ENST00000447648.2	-	16	2604	c.2305C>A	c.(2305-2307)Cac>Aac	p.H769N	TECPR1_ENST00000379795.3_Missense_Mutation_p.H770N|TECPR1_ENST00000542604.1_Missense_Mutation_p.H699N			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	769						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCCGCAGGTGGCCTCCCATC	0.642													False	0	False	7:97858456	0	T	97858456	G	T	97858456	3	4	135	1	0	0	0	0	1	0	0	0	15825	1348	47	3	1236	3	TECPR1	7	97858456	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	73011983	97858456	61280207	48	33376											
SPDYE3	441272	broad.mit.edu	37	chr7	99913460	99913460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagatctgagggtgtcAgacaaggtaaggttgttctc	13	6	3	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522													False	0	False	7:99913460	0	G	99913460	A	G	99913460	2	3	135	1	0	0	0	0	0	0	0	1	15112	175	7	4		4	SPDYE3	7	99913460	Silent	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	2055004	99913460	59225203	49	33377											
KIAA1549	57670	broad.mit.edu	37	chr7	138566147	138566147	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	taataaccttcctctgtgacGaacattcttggaagggatct	8	9	3	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:138566147G>C	ENST00000440172.1	-	11	4264	c.4216C>G	c.(4216-4218)Cgt>Ggt	p.R1406G	KIAA1549_ENST00000422774.1_Missense_Mutation_p.R1406G|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1356G	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1406						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCTCTGTGACGAACATTCTTG	0.502			O	BRAF	pilocytic astrocytoma								False	0	False	7:138566147	0	C	138566147	G	C	138566147	3	2	135	1	0	0	0	0	1	0	0	0	8294	1058	37	5	1676	5	KIAA1549	7	138566147	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	38652687	138566147	20572516	50	33378											
BRAF	673	broad.mit.edu	37	chr7	140477831	140477845	+	In_Frame_Del	DEL	GAGGTGTAGGTGCTG	GAGGTGTAGGTGCTG	-													tttgaaggcttgtaactgctGaggtgtaggtgctgtcacat							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	GAGGTGTAGGTGCTG	GAGGTGTAGGTGCTG	-	-	GAGGTGTAGGTGCTG	GAGGTGTAGGTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:140477831_140477845delGAGGTGTAGGTGCTG	ENST00000288602.6	-	12	1523_1537	c.1463_1477delCAGCACCTACACCTC	c.(1462-1479)acagcacctacacctcag>aag	p.488_493TAPTPQ>K		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	488	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L485_P490>Y(2)|p.N486_P490del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGTAACTGCTGAGGTGTAGGTGCTGTCACATTCAA	0.353		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				False	1	False	7:140477831	0	-	140477845	GAGGTGTAGGTGCTG	-	140477831	7	5	135	1	0	1	0	1	0	0	0	0	1503	1299	45	0	851	0	BRAF	7	140477831	In_Frame_Del	DEL	GAGGTGTAGGTGCTG	TCGA-US-A77E-01A-11D-A32N-08	1911684	140477831	18660832	51	33379											
ZNF212	7988	broad.mit.edu	37	chr7	148951330	148951330	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgtggcaagagcttcagtCacccatctgacttggtgcgg	12	11	3	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:148951330C>T	ENST00000335870.2	+	5	1440	c.1312C>T	c.(1312-1314)Cac>Tac	p.H438Y		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GAGCTTCAGTCACCCATCTGA	0.587													False	0	False	7:148951330	0	T	148951330	C	T	148951330	3	4	135	1	0	0	0	0	1	0	0	0	17851	826	29	2	1330	2	ZNF212	7	148951330	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	8473499	148951330	10187333	52	33380											
RHEB	6009	broad.mit.edu	37	chr7	151174503	151174504	+	Splice_Site	INS	-	-	TTTAAGGGACTGTGCTGGAATTATTAATA													aaagatagaatattcatcctINSgtggggaaaaaaaattatct							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:151174503_151174504insTTTAAGGGACTGTGCTGGAATTATTAATA	ENST00000262187.5	-	4	605		c.e4-2		RHEB_ENST00000472642.1_Splice_Site|RHEB_ENST00000496004.1_Splice_Site	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain						cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		ATATTCATCCTGTGGGGAAAAA	0.337													False	0	False	7:151174503	0	TTTAAGGGACTGTGCTGGAATTATTAATA	151174504	-	TTTAAGGGACTGTGCTGGAATTATTAATA	151174503	8	5	135	1	0	1	1	0	0	0	1	0	13407	1594	55	0	383	0	RHEB	7	151174503	Splice_Site	INS	-	TCGA-US-A77E-01A-11D-A32N-08	2223173	151174503	7964160	53	33381											
DPP6	1804	broad.mit.edu	37	chr7	154667694	154667694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatggtgagcagccacggCgcggtggtggtaaagtgtga	19	6	0	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:154667694C>T	ENST00000404039.1	+	20	2357	c.1770C>T	c.(1768-1770)ggC>ggT	p.G590G	DPP6_ENST00000377770.3_Silent_p.G654G|DPP6_ENST00000332007.3_Silent_p.G592G|DPP6_ENST00000427557.1_Silent_p.G547G	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	654					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCAGCCACGGCGCGGTGGTGG	0.647													False	0	False	7:154667694	0	T	154667694	C	T	154667694	2	4	135	1	0	0	0	0	0	0	0	1	4760	755	27	1		1	DPP6	7	154667694	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	3493191	154667694	4470969	54	33382											
IDO1	3620	broad.mit.edu	37	chr8	39775725	39775725	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggtcatggagatgtccgtaAggtttggagattttctcaga	13	5	2	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:39775725A>T	ENST00000518237.1	+	3	941	c.302A>T	c.(301-303)aAg>aTg	p.K101M	IDO1_ENST00000522495.1_Splice_Site_p.K101M|RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	101					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GATGTCCGTAAGGTTTGGAGA	0.398													False	0	False	8:39775725	0	T	39775725	A	T	39775725	5	4	135	1	0	0	0	0	0	0	1	0	7551	86	3	5	312	5	IDO1	8	39775725	Splice_Site	SNP	A	TCGA-US-A77E-01A-11D-A32N-08		39775725	106588297	55	33383											
SOX17	64321	broad.mit.edu	37	chr8	55372148	55372148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactcggcccagagcccgcgGgtccctcgattccgggcctc	13	18	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:55372148G>T	ENST00000297316.4	+	2	1042	c.838G>T	c.(838-840)Ggt>Tgt	p.G280C		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	280	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			AGAGCCCGCGGGTCCCTCGAT	0.761													False	0	True	8:55372148	0	T	55372148	G	T	55372148	3	4	135	1	0	0	0	0	1	0	0	0	15027	1232	43	3	844	3	SOX17	8	55372148	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	15596423	55372148	90991874	56	33384											
UBE2W	55284	broad.mit.edu	37	chr8	74722807	74722808	+	Frame_Shift_Ins	INS	-	-	A													gttagaatggataaacagatINSatgaccattgctataaacat							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:74722807_74722808insA	ENST00000517608.1	-	4	354_355	c.354_355insT	c.(352-357)catatcfs	p.I119fs	UBE2W_ENST00000419880.3_Frame_Shift_Ins_p.I130fs|UBE2W_ENST00000602593.1_Frame_Shift_Ins_p.I90fs|RP11-463D19.2_ENST00000358757.5_Frame_Shift_Ins_p.I90fs|UBE2W_ENST00000602969.1_Frame_Shift_Ins_p.I101fs|UBE2W_ENST00000453587.2_Frame_Shift_Ins_p.I90fs			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	90					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			GATAAACAGATATGACCATTGC	0.371													False	1	False	8:74722807	0	A	74722808	-	A	74722807	7	5	135	1	0	1	1	0	0	0	0	0	16961	1406	49	0	199	0	UBE2W	8	74722807	Frame_Shift_Ins	INS	-	TCGA-US-A77E-01A-11D-A32N-08	19350659	74722807	71641215	57	33385	385	2									
UBE2W	55284	broad.mit.edu	37	chr8	74722809	74722810	+	In_Frame_Ins	INS	-	-	ATCTCTTCTTTCAGTTAGGTA													tagaatggataaacagatatINSgaccattgctataaacatga							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:74722809_74722810insATCTCTTCTTTCAGTTAGGTA	ENST00000517608.1	-	4	352_353	c.352_353insTACCTAACTGAAAGAAGAGAT	c.(352-354)cat>cTACCTAACTGAAAGAAGAGATat	p.118_118H>LPN*KKRY	UBE2W_ENST00000419880.3_In_Frame_Ins_p.129_129H>LPN*KKRY|UBE2W_ENST00000602593.1_In_Frame_Ins_p.89_89H>LPN*KKRY|RP11-463D19.2_ENST00000358757.5_In_Frame_Ins_p.89_89H>LPN*KKRY|UBE2W_ENST00000602969.1_In_Frame_Ins_p.100_100H>LPN*KKRY|UBE2W_ENST00000453587.2_In_Frame_Ins_p.89_89H>LPN*KKRY			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	89					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			TAAACAGATATGACCATTGCTA	0.371													False	0	False	8:74722809	0	ATCTCTTCTTTCAGTTAGGTA	74722810	-	ATCTCTTCTTTCAGTTAGGTA	74722809	7	5	135	1	0	1	1	0	0	0	0	0	16961	1464	51	0	201	0	UBE2W	8	74722809	In_Frame_Ins	INS	-	TCGA-US-A77E-01A-11D-A32N-08	2	74722809	71641213	58	33386	385	2									
DGAT1	8694	broad.mit.edu	37	chr8	145541605	145541605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatccgtcgcagcagaaagCgcttccggatgcggggagag	17	10	0	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:145541605C>T	ENST00000332324.4	-	9	1100	c.827G>A	c.(826-828)cGc>cAc	p.R276H	DGAT1_ENST00000531896.1_Silent_p.A306A	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	276					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CAGCAGAAAGCGCTTCCGGAT	0.622													False	0	False	8:145541605	0	T	145541605	C	T	145541605	3	4	135	1	0	0	0	0	1	0	0	0	4487	768	27	1	675	1	DGAT1	8	145541605	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	70818796	145541605	822417	59	33387											
RLN2	6019	broad.mit.edu	37	chr9	5304476	5304476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgaactaattcgcggccGcataatttaataacttcctc	7	12	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:5304476G>A	ENST00000381627.3	-	1	493	c.105C>T	c.(103-105)tgC>tgT	p.C35C	RLN2_ENST00000308420.3_Silent_p.C35C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	35					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		ATTCGCGGCCGCATAATTTAA	0.502													False	0	False	9:5304476	0	A	5304476	G	A	5304476	2	1	135	1	0	0	0	0	0	0	0	1	13471	1079	38	1		1	RLN2	9	5304476	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		5304476	135908955	60	33388											
ELAVL2	1993	broad.mit.edu	37	chr9	23692693	23692693	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccaaaacctttgcatttAttggtgttaaagtcacggat	7	7	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:23692693A>C	ENST00000397312.2	-	7	1216	c.942T>G	c.(940-942)aaT>aaG	p.N314K	ELAVL2_ENST00000544538.1_Missense_Mutation_p.N314K|ELAVL2_ENST00000223951.6_Missense_Mutation_p.N301K|ELAVL2_ENST00000380110.4_Missense_Mutation_p.N344K|ELAVL2_ENST00000380117.1_Missense_Mutation_p.N314K	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	314	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTTTGCATTTATTGGTGTTAA	0.473													False	0	True	9:23692693	0	C	23692693	A	C	23692693	3	2	135	1	0	0	0	0	1	0	0	0	5082	446	16	4	141	4	ELAVL2	9	23692693	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	18388217	23692693	117520738	61	33389											
TRPM3	80036	broad.mit.edu	37	chr9	73442926	73442926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggacatggtctggtatggCcggacaacctgcagggtatc	14	9	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:73442926C>T	ENST00000377110.3	-	6	1053	c.810G>A	c.(808-810)cgG>cgA	p.R270R	TRPM3_ENST00000396285.1_Silent_p.R117R|TRPM3_ENST00000423814.3_Silent_p.R272R|TRPM3_ENST00000396283.1_Silent_p.R117R|TRPM3_ENST00000360823.2_Silent_p.R117R|TRPM3_ENST00000396292.4_Silent_p.R117R|TRPM3_ENST00000361823.5_Silent_p.R117R|TRPM3_ENST00000377105.1_Silent_p.R117R|TRPM3_ENST00000377111.2_Silent_p.R270R|TRPM3_ENST00000377101.1_Silent_p.R117R|TRPM3_ENST00000408909.2_Silent_p.R117R|TRPM3_ENST00000358082.3_Silent_p.R117R|TRPM3_ENST00000396280.5_Silent_p.R117R|TRPM3_ENST00000377106.1_Silent_p.R117R|TRPM3_ENST00000357533.2_Silent_p.R272R			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCTGGTATGGCCGGACAACCT	0.458													False	0	False	9:73442926	0	T	73442926	C	T	73442926	2	4	135	1	0	0	0	0	0	0	0	1	16670	726	26	2		2	TRPM3	9	73442926	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	49750233	73442926	67770505	62	33390											
KIF27	55582	broad.mit.edu	37	chr9	86504131	86504131	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcgaaatccagcaaatAttcgatccagagagtacata	8	8	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:86504131A>C	ENST00000297814.2	-	7	1990	c.1847T>G	c.(1846-1848)aTa>aGa	p.I616R	KIF27_ENST00000413982.1_Missense_Mutation_p.I616R|KIF27_ENST00000334204.2_Missense_Mutation_p.I616R|KIF27_ENST00000376347.1_Missense_Mutation_p.I7R	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	616					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCAGCAAATATTCGATCCAG	0.403													False	0	False	9:86504131	0	C	86504131	A	C	86504131	3	2	135	1	0	0	0	0	1	0	0	0	8346	449	16	4	2406	4	KIF27	9	86504131	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	13061205	86504131	54709300	63	33391											
KLF4	9314	broad.mit.edu	37	chr9	110249341	110249341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcaggtgtgccttgagatggGaactctttgtgtaggttttg	15	5	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:110249341G>T	ENST00000374672.4	-	4	1705	c.1232C>A	c.(1231-1233)tCc>tAc	p.S411Y		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	445	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CTTGAGATGGGAACTCTTTGT	0.592													False	0	True	9:110249341	0	T	110249341	G	T	110249341	3	4	135	1	0	0	0	0	1	0	0	0	8398	1174	41	3	215	3	KLF4	9	110249341	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	23745210	110249341	30964090	64	33392											
FAM107B	83641	broad.mit.edu	37	chr10	14816370	14816370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtctccgcgggctgggccGcagtgcggtgacttgaattc	16	12	1	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:14816370G>A	ENST00000181796.2	-	1	526	c.293C>T	c.(292-294)gCg>gTg	p.A98V		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGGCTGGGCCGCAGTGCGGTG	0.587													False	0	False	10:14816370	0	A	14816370	G	A	14816370	3	1	135	1	0	0	0	0	1	0	0	0	5426	1087	38	1	647	1	FAM107B	10	14816370	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		14816370	120718377	65	33393											
NEBL	10529	broad.mit.edu	37	chr10	21074742	21074742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttctctgcactgtgccGtacatccagccatcgtcaat	7	15	2	0	rs139156783	by1000genomes	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:21074742G>A	ENST00000377122.4	-	28	3375	c.2979C>T	c.(2977-2979)taC>taT	p.Y993Y	NEBL_ENST00000417816.2_Silent_p.Y249Y|NEBL_ENST00000377159.4_Silent_p.Y215Y	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	993	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCACTGTGCCGTACATCCAGC	0.468													False	0	False	10:21074742	0	A	21074742	G	A	21074742	2	1	135	1	0	0	0	0	0	0	0	1	10371	1140	40	1		1	NEBL	10	21074742	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	6258372	21074742	114460005	66	33394											
MYO3A	53904	broad.mit.edu	37	chr10	26457784	26457784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagaaaaggaaagaaagCgctataataatacagtcagg	11	5	1	2	rs35541310	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:26457784C>T	ENST00000265944.5	+	28	3421	c.3255C>T	c.(3253-3255)agC>agT	p.S1085S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1085	IQ 2.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGAAAGAAAGCGCTATAATAA	0.328													False	0	True	10:26457784	0	T	26457784	C	T	26457784	2	4	135	1	0	0	0	0	0	0	0	1	10143	767	27	1		1	MYO3A	10	26457784	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	5383042	26457784	109076963	67	33395											
RPP30	10556	broad.mit.edu	37	chr10	92631801	92631801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacctgaaggctctgcgcGgacttgtggagacagccgct	14	12	1	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:92631801G>A	ENST00000413330.1	+	1	93	c.58G>A	c.(58-60)Gga>Aga	p.G20R	RPP30_ENST00000371703.3_Missense_Mutation_p.G20R	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	20					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.G20R(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						GGCTCTGCGCGGACTTGTGGA	0.637													False	0	False	10:92631801	0	A	92631801	G	A	92631801	3	1	135	1	0	0	0	0	1	0	0	0	13691	1117	39	1	60	1	RPP30	10	92631801	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	66174017	92631801	42902946	68	33396											
FIBIN	387758	broad.mit.edu	37	chr11	27016362	27016362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggaggatgctgggcgcGtgctggagggcatcagcaaa	19	7	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:27016362G>A	ENST00000318627.2	+	1	735	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	97						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						TGCTGGGCGCGTGCTGGAGGG	0.657													False	0	False	11:27016362	0	A	27016362	G	A	27016362	3	1	135	1	0	0	0	0	1	0	0	0	5925	1145	40	1	291	1	FIBIN	11	27016362	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		27016362	107990154	69	33397											
EXT2	2132	broad.mit.edu	37	chr11	44129401	44129401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcatgtttcagttttggCcccattctatcgagtcctca	8	12	3	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:44129401C>T	ENST00000395673.3	+	2	294	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	EXT2_ENST00000358681.4_Missense_Mutation_p.P47S|EXT2_ENST00000533608.1_Missense_Mutation_p.P47S|EXT2_ENST00000343631.3_Missense_Mutation_p.P47S	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	47					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCAGTTTTGGCCCCATTCTAT	0.527			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				False	0	True	11:44129401	0	T	44129401	C	T	44129401	3	4	135	1	0	0	0	0	1	0	0	0	5357	739	26	2	244	2	EXT2	11	44129401	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	17113039	44129401	90877115	70	33398											
CKAP5	9793	broad.mit.edu	37	chr11	46780946	46780946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagctggaattctcggcGgaccatctgggctgcctcag	12	13	3	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:46780946G>A	ENST00000529230.1	-	34	4487	c.4441C>T	c.(4441-4443)Cgc>Tgc	p.R1481C	CKAP5_ENST00000354558.3_Missense_Mutation_p.R1481C|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1481C|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1481C			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1481					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AATTCTCGGCGGACCATCTGG	0.483													False	0	False	11:46780946	0	A	46780946	G	A	46780946	3	1	135	1	0	0	0	0	1	0	0	0	3468	1116	39	1	1701	1	CKAP5	11	46780946	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	2651545	46780946	88225570	71	33399											
OR4A47	403253	broad.mit.edu	37	chr11	48510885	48510885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	attttttctgtgacatgtatCccttattgaaactggtctgc	7	8	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:48510885C>A	ENST00000446524.1	+	1	617	c.541C>A	c.(541-543)Ccc>Acc	p.P181T		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181A(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGACATGTATCCCTTATTGAA	0.443													False	0	True	11:48510885	0	A	48510885	C	A	48510885	3	1	135	1	0	0	0	0	1	0	0	0	11110	855	30	3	543	3	OR4A47	11	48510885	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	1729939	48510885	86495631	72	33400											
OR4S2	219431	broad.mit.edu	37	chr11	55418776	55418776	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacccctacattatatgaccAtcatgaaccgggagacatgc	7	12	1	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:55418776A>C	ENST00000312422.2	+	1	397	c.397A>C	c.(397-399)Atc>Ctc	p.I133L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTATATGACCATCATGAACCG	0.428													False	0	False	11:55418776	0	C	55418776	A	C	55418776	3	2	135	1	0	0	0	0	1	0	0	0	11151	217	8	4	399	4	OR4S2	11	55418776	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	6907891	55418776	79587740	73	33401											
RAB3IL1	5866	broad.mit.edu	37	chr11	61665800	61665800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagtgacatctccttccGcaacctcatgatctcccaga	7	16	3	3	rs139969835		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:61665800G>A	ENST00000394836.2	-	10	1256	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.R341W	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	367							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						ATCTCCTTCCGCAACCTCATG	0.632											OREG0021017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	11:61665800	0	A	61665800	G	A	61665800	3	1	135	1	0	0	0	0	1	0	0	0	13016	1086	38	1	53	1	RAB3IL1	11	61665800	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	6247024	61665800	73340716	74	33402											
CHRM1	1128	broad.mit.edu	37	chr11	62677297	62677297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggcgaaaggtgtcccGgaaggctttgttgcagagtg	16	8	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:62677297G>A	ENST00000306960.3	-	2	1817	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	426					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	AAGGTGTCCCGGAAGGCTTTG	0.632													False	0	True	11:62677297	0	A	62677297	G	A	62677297	3	1	135	1	0	0	0	0	1	0	0	0	3399	1115	39	1	110	1	CHRM1	11	62677297	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1011497	62677297	72329219	75	33403											
RCOR2	283248	broad.mit.edu	37	chr11	63680166	63680166	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgaacagccaaaagctGctcatctgtggtccagcggg	11	12	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:63680166G>A	ENST00000301459.4	-	10	1396	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	337	SANT 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GCCAAAAGCTGCTCATCTGTG	0.532													False	0	False	11:63680166	0	A	63680166	G	A	63680166	4	1	135	1	0	0	0	0	0	1	0	0	13262	1328	46	2	574	2	RCOR2	11	63680166	Nonsense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1002869	63680166	71326350	76	33404											
ESRRA	2101	broad.mit.edu	37	chr11	64082689	64082689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggctgcaggccctgcGgctggagcgagaggagtatg	20	10	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:64082689G>A	ENST00000405666.1	+	6	1193	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	ESRRA_ENST00000000442.6_Missense_Mutation_p.R320Q|ESRRA_ENST00000406310.1_Missense_Mutation_p.R319Q	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	320	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CAGGCCCTGCGGCTGGAGCGA	0.627													False	0	False	11:64082689	0	A	64082689	G	A	64082689	3	1	135	1	0	0	0	0	1	0	0	0	5292	1116	39	1	977	1	ESRRA	11	64082689	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	402523	64082689	70923827	77	33405											
PPP2R1B	5519	broad.mit.edu	37	chr11	111597783	111597784	+	Splice_Site	DEL	TG	TG	-													gcaactgatacactggtcccTgtaaggcaaacagcatgtta							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:111597783_111597784delTG	ENST00000426998.2	-	14	1744		c.e14-2		PPP2R1B_ENST00000311129.5_Splice_Site|PPP2R1B_ENST00000530787.1_Splice_Site|SIK2_ENST00000304987.3_3'UTR	NM_181700.1	NP_859051.1	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta								protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CACTGGTCCCTGTAAGGCAAAC	0.564													False	1	False	11:111597783	0	-	111597784	TG	-	111597783	8	5	135	1	0	1	0	1	0	0	1	0	12457	1594	55	0	97	0	PPP2R1B	11	111597783	Splice_Site	DEL	TG	TCGA-US-A77E-01A-11D-A32N-08	47515094	111597783	23408733	78	33406											
APOA4	337	broad.mit.edu	37	chr11	116691783	116691783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacgtcccccgcatgggGgcccagtttctgcctgagct	11	16	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:116691783G>A	ENST00000357780.3	-	3	1105	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCCGCATGGGGGCCCAGTTTC	0.592													False	0	True	11:116691783	0	A	116691783	G	A	116691783	3	1	135	1	0	0	0	0	1	0	0	0	785	1232	43	2	203	2	APOA4	11	116691783	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	5094000	116691783	18314733	79	33407											
IFT46	56912	broad.mit.edu	37	chr11	118416522	118416522	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcaccacagatcatgtcaAtgtactctgccaggctgcaa	7	13	4	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:118416522A>G	ENST00000264020.2	-	11	1249	c.872T>C	c.(871-873)aTt>aCt	p.I291T	IFT46_ENST00000264021.3_Missense_Mutation_p.I240T|IFT46_ENST00000530872.1_Missense_Mutation_p.I291T|TMEM25_ENST00000442938.2_Intron|TMEM25_ENST00000354284.4_Intron	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	240					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						GATCATGTCAATGTACTCTGC	0.507													False	0	False	11:118416522	0	G	118416522	A	G	118416522	3	3	135	1	0	0	0	0	1	0	0	0	7610	101	4	4	207	4	IFT46	11	118416522	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	1724739	118416522	16589994	80	33408											
UPK2	7379	broad.mit.edu	37	chr11	118828843	118828843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgggctgggtatggcccGcacagggggcatggtggtca	18	9	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:118828843G>A	ENST00000264031.2	+	5	490	c.455G>A	c.(454-456)cGc>cAc	p.R152H	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	152					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GGTATGGCCCGCACAGGGGGC	0.617													False	0	True	11:118828843	0	A	118828843	G	A	118828843	3	1	135	1	0	0	0	0	1	0	0	0	17093	1087	38	1	473	1	UPK2	11	118828843	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	412321	118828843	16177673	81	33409											
ADAMTS8	11095	broad.mit.edu	37	chr11	130284700	130284700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggggaggggcagggccGcagcaggggcatccaggaga	21	9	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:130284700G>A	ENST00000257359.6	-	5	1998	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	431				YLTELLDGGHGDCLLDAPAAALPLPTGL -> FSGCHLQGW IHFKYLCKCVSELKCDLMP (in Ref. 3; AAF25806).	negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGCAGGGCCGCAGCAGGGGC	0.652													False	0	False	11:130284700	0	A	130284700	G	A	130284700	3	1	135	1	0	0	0	0	1	0	0	0	272	1087	38	1	1397	1	ADAMTS8	11	130284700	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	11455857	130284700	4721816	82	33410											
C1RL	51279	broad.mit.edu	37	chr12	7254566	7254566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgaggaaggctgtgtgcGgaaggtcagccgcaaactcc	14	12	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:7254566G>A	ENST00000266542.4	-	3	510	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	C1RL_ENST00000545337.1_Missense_Mutation_p.R140C|C1RL_ENST00000544702.1_Missense_Mutation_p.R140C|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	140	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCTGTGTGCGGAAGGTCAGC	0.622													False	0	False	12:7254566	0	A	7254566	G	A	7254566	3	1	135	1	0	0	0	0	1	0	0	0	1988	1116	39	1	1061	1	C1RL	12	7254566	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		7254566	126597329	83	33411											
KRT72	140807	broad.mit.edu	37	chr12	52994910	52994910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtccatctccacgttgagCggggccaggaggctcttgtt	15	11	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:52994910C>T	ENST00000293745.2	-	1	412	c.327G>A	c.(325-327)ccG>ccA	p.P109P	KRT72_ENST00000537672.2_Silent_p.P109P|KRT72_ENST00000354310.4_Silent_p.P109P|KRT72_ENST00000398066.3_5'UTR	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	109	Head.					keratin filament	structural molecule activity	p.P109P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCACGTTGAGCGGGGCCAGGA	0.667													False	0	True	12:52994910	0	T	52994910	C	T	52994910	2	4	135	1	0	0	0	0	0	0	0	1	8535	755	27	1		1	KRT72	12	52994910	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	45740344	52994910	80856985	84	33412											
SPRYD4	283377	broad.mit.edu	37	chr12	56863123	56863123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttcacctatgcccagcGcaagtggtacaccatgttgg	12	11	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:56863123G>A	ENST00000338146.5	+	2	461	c.386G>A	c.(385-387)cGc>cAc	p.R129H		NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	129	B30.2/SPRY.					nucleus				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						TATGCCCAGCGCAAGTGGTAC	0.572													False	0	False	12:56863123	0	A	56863123	G	A	56863123	3	1	135	1	0	0	0	0	1	0	0	0	15192	1087	38	1	392	1	SPRYD4	12	56863123	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	3868213	56863123	76988772	85	33413											
LRP1	4035	broad.mit.edu	37	chr12	57590012	57590012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgagtgtctcagccgcaaGctcagtggctgcagccagga	13	11	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:57590012G>T	ENST00000243077.3	+	55	9310	c.8844G>T	c.(8842-8844)aaG>aaT	p.K2948N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2948	EGF-like 11.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCAGCCGCAAGCTCAGTGGCT	0.632													False	0	False	12:57590012	0	T	57590012	G	T	57590012	3	4	135	1	0	0	0	0	1	0	0	0	9013	962	34	3	9062	3	LRP1	12	57590012	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	726889	57590012	76261883	86	33414											
FOXN4	121643	broad.mit.edu	37	chr12	109719343	109719343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggctggggctgaggtccGgcagggcgtgcagtggcggg	24	9	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:109719343G>A	ENST00000299162.5	-	9	1267	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	FOXN4_ENST00000355216.1_Missense_Mutation_p.P208L	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	388					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						GCTGAGGTCCGGCAGGGCGTG	0.657													False	0	False	12:109719343	0	A	109719343	G	A	109719343	3	1	135	1	0	0	0	0	1	0	0	0	6064	1116	39	1	398	1	FOXN4	12	109719343	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	52129331	109719343	24132552	87	33415											
RPH3A	22895	broad.mit.edu	37	chr12	113266105	113266105	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggattgatgttttccaGgagcactagacatctactat	8	9	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:113266105G>A	ENST00000389385.4	+	3	479		c.e3-1		RPH3A_ENST00000543106.2_Splice_Site|RPH3A_ENST00000551052.1_Splice_Site|RPH3A_ENST00000415485.3_Splice_Site|RPH3A_ENST00000447659.2_Splice_Site|RPH3A_ENST00000548866.1_Splice_Site	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)						intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ATGTTTTCCAGGAGCACTAGA	0.488													False	0	False	12:113266105	0	A	113266105	G	A	113266105	5	1	135	1	0	0	0	0	0	0	1	0	13630	1014	35	2		2	RPH3A	12	113266105	Splice_Site	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	3546762	113266105	20585790	88	33416											
MMP14	4323	broad.mit.edu	37	chr14	23315041	23315041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccatcgggaggccggccGgatgaggggactgaggagga	20	9	0	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:23315041G>A	ENST00000311852.6	+	10	1803	c.1542G>A	c.(1540-1542)ccG>ccA	p.P514P	MMP14_ENST00000548162.1_Intron	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	514						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GAGGCCGGCCGGATGAGGGGA	0.637													False	0	True	14:23315041	0	A	23315041	G	A	23315041	2	1	135	1	0	0	0	0	0	0	0	1	9720	1103	39	1		1	MMP14	14	23315041	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		23315041	84034499	89	33417											
NKX2-8	26257	broad.mit.edu	37	chr14	37050517	37050517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaggtaccgctgctgccGgaagcgccgctccaactcca	11	16	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:37050517G>A	ENST00000258829.5	-	2	527	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	104					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		CGCTGCTGCCGGAAGCGCCGC	0.662													False	0	False	14:37050517	0	A	37050517	G	A	37050517	3	1	135	1	0	0	0	0	1	0	0	0	10522	1115	39	1	413	1	NKX2-8	14	37050517	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	13735476	37050517	70299023	90	33418											
BTBD7	55727	broad.mit.edu	37	chr14	93709084	93709084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatgccttattgtggctGtacagatcgggaccaaaata	12	7	0	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:93709084G>A	ENST00000334746.5	-	11	3241	c.2934C>T	c.(2932-2934)taC>taT	p.Y978Y	BTBD7_ENST00000393170.2_Silent_p.Y552Y|BTBD7_ENST00000554565.1_Silent_p.Y627Y	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	978										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TATTGTGGCTGTACAGATCGG	0.483													False	0	False	14:93709084	0	A	93709084	G	A	93709084	2	1	135	1	0	0	0	0	0	0	0	1	1553	1372	48	2		2	BTBD7	14	93709084	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	56658567	93709084	13640456	91	33419											
CLMN	79789	broad.mit.edu	37	chr14	95677190	95677190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccactcctccaactgcccGcaaagtcctgcaccgccacg	7	21	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:95677190G>A	ENST00000298912.4	-	7	748	c.635C>T	c.(634-636)gCg>gTg	p.A212V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	212	Actin-binding.|CH 2.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCAACTGCCCGCAAAGTCCTG	0.567													False	0	True	14:95677190	0	A	95677190	G	A	95677190	3	1	135	1	0	0	0	0	1	0	0	0	3565	1087	38	1	2401	1	CLMN	14	95677190	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1968106	95677190	11672350	92	33420											
CCPG1	9236	broad.mit.edu	37	chr15	55652689	55652689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcagtgagtctttcccGtaagattgctatttcctttt	7	10	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:55652689G>A	ENST00000310958.6	-	8	1580	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.R428W|CCPG1_ENST00000442196.3_Missense_Mutation_p.R428W|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	428					cell cycle	integral to membrane		p.R428W(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AGTCTTTCCCGTAAGATTGCT	0.423													False	0	True	15:55652689	0	A	55652689	G	A	55652689	3	1	135	1	0	0	0	0	1	0	0	0	2961	1144	40	1	995	1	CCPG1	15	55652689	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		55652689	46878703	93	33421											
TPM1	7168	broad.mit.edu	37	chr15	63353068	63353068	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgtcttcctgctgcagGtggcccgtaagctggtcatc	13	11	2	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:63353068G>T	ENST00000357980.4	+	6	698	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L	TPM1_ENST00000559397.1_Splice_Site_p.V165L|TPM1_ENST00000403994.3_Splice_Site_p.V165L|TPM1_ENST00000559281.1_Splice_Site_p.V129L|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000358278.3_Splice_Site_p.V165L|TPM1_ENST00000559556.1_Splice_Site_p.V165L|TPM1_ENST00000267996.7_Splice_Site_p.V165L|TPM1_ENST00000288398.6_Splice_Site_p.V165L|TPM1_ENST00000560959.1_Splice_Site_p.V129L|TPM1_ENST00000404484.4_Splice_Site_p.V129L|TPM1_ENST00000317516.7_Splice_Site_p.V129L|TPM1_ENST00000334895.5_Splice_Site_p.V129L			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	165					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						CCTGCTGCAGGTGGCCCGTAA	0.592													False	0	False	15:63353068	0	T	63353068	G	T	63353068	5	4	135	1	0	0	0	0	0	0	1	0	16488	1275	44	3	777	3	TPM1	15	63353068	Splice_Site	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	7700379	63353068	39178324	94	33422											
HOMER2	0	broad.mit.edu	37	chr15	83561566	83561566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcaatctggaagacatgCgctcgggtggtgaagatggg	18	6	2	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:83561566C>T	ENST00000304231.8	-	2	225	c.33G>A	c.(31-33)gcG>gcA	p.A11A	HOMER2_ENST00000399166.2_Silent_p.A11A|HOMER2_ENST00000450735.2_Silent_p.A11A|HOMER2_ENST00000426485.1_Silent_p.A11A	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	11	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		p.A11A(1)		cervix(1)|endometrium(2)|lung(6)	9						GGAAGACATGCGCTCGGGTGG	0.483													False	0	False	15:83561566	0	T	83561566	C	T	83561566	2	4	135	1	0	0	0	0	0	0	0	1	7326	755	27	1		1	HOMER2	15	83561566	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	20208498	83561566	18969826	95	33423											
GNPTG	84572	broad.mit.edu	37	chr16	1412884	1412884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtttgctcacccagcacgGcatcccctacacgaggccca	9	17	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:1412884G>A	ENST00000204679.4	+	10	843	c.800G>A	c.(799-801)gGc>gAc	p.G267D		NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	267						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				ACCCAGCACGGCATCCCCTAC	0.567													False	0	False	16:1412884	0	A	1412884	G	A	1412884	3	1	135	1	0	0	0	0	1	0	0	0	6591	1203	42	2	838	2	GNPTG	16	1412884	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		1412884	88941869	96	33424											
PRSS27	83886	broad.mit.edu	37	chr16	2763623	2763623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaactcggtgtctttgctGtagagcaggttgcacttggg	13	9	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:2763623G>A	ENST00000302641.3	-	5	639	c.585C>T	c.(583-585)taC>taT	p.Y195Y		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	195	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						TGTCTTTGCTGTAGAGCAGGT	0.587													False	0	False	16:2763623	0	A	2763623	G	A	2763623	2	1	135	1	0	0	0	0	0	0	0	1	12697	1372	48	2		2	PRSS27	16	2763623	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1350739	2763623	87591130	97	33425											
XYLT1	64131	broad.mit.edu	37	chr16	17352929	17352929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctccccaatctcctggcGgcagtgcttggacttagcac	10	14	2	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:17352929G>A	ENST00000261381.6	-	3	913	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	277					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCTCCTGGCGGCAGTGCTTG	0.607													False	0	False	16:17352929	0	A	17352929	G	A	17352929	3	1	135	1	0	0	0	0	1	0	0	0	17547	1116	39	1	2090	1	XYLT1	16	17352929	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	14589306	17352929	73001824	98	33426											
SMG1	23049	broad.mit.edu	37	chr16	18896965	18896965	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatccacattttcaagaatAgactgcaggctggtcattac	8	9	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:18896965A>T	ENST00000446231.2	-	7	1258	c.846T>A	c.(844-846)tcT>tcA	p.S282S	SMG1_ENST00000565224.1_Silent_p.S256S|SMG1_ENST00000389467.3_Silent_p.S282S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	282	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTCAAGAATAGACTGCAGGC	0.333													False	0	False	16:18896965	0	T	18896965	A	T	18896965	2	4	135	1	0	0	0	0	0	0	0	1	14875	407	15	5		5	SMG1	16	18896965	Silent	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	1544036	18896965	71457788	99	33427											
ZNF646	9726	broad.mit.edu	37	chr16	31090857	31090857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcctggtgaaccaccGcaagatccaccagactggag	13	13	0	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:31090857G>A	ENST00000394979.2	+	1	3635	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1071H			O15015	ZN646_HUMAN	zinc finger protein 646	1071					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GTGAACCACCGCAAGATCCAC	0.617													False	0	False	16:31090857	0	A	31090857	G	A	31090857	3	1	135	1	0	0	0	0	1	0	0	0	18145	1087	38	1	3214	1	ZNF646	16	31090857	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	12193892	31090857	59263896	100	33428											
SLC6A2	6530	broad.mit.edu	37	chr16	55727937	55727937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggtatggattgatgccGcaactcagatatttttttcc	8	8	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:55727937G>A	ENST00000379906.2	+	6	1189	c.934G>A	c.(934-936)Gca>Aca	p.A312T	SLC6A2_ENST00000414754.3_Missense_Mutation_p.A312T|SLC6A2_ENST00000566163.1_Missense_Mutation_p.A267T|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A312T|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A207T|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A312T|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A312T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	312					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GATTGATGCCGCAACTCAGAT	0.453													False	0	False	16:55727937	0	A	55727937	G	A	55727937	3	1	135	1	0	0	0	0	1	0	0	0	14763	1087	38	1	1047	1	SLC6A2	16	55727937	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	24637080	55727937	34626816	101	33429											
KIFC3	3801	broad.mit.edu	37	chr16	57803635	57803635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagcaagttggtccggaCgcctatggggacactcgggc	16	11	1	0	rs146824728	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:57803635C>T	ENST00000379655.4	-	9	1347	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	KIFC3_ENST00000421376.2_Missense_Mutation_p.V225I|KIFC3_ENST00000465878.2_Missense_Mutation_p.V225I|KIFC3_ENST00000539578.1_Missense_Mutation_p.V306I|KIFC3_ENST00000445690.2_Missense_Mutation_p.V364I|KIFC3_ENST00000540079.2_Missense_Mutation_p.V262I|KIFC3_ENST00000541240.1_Missense_Mutation_p.V386I|KIFC3_ENST00000543930.1_Missense_Mutation_p.V225I|KIFC3_ENST00000562903.1_Missense_Mutation_p.V225I	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	364					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TTGGTCCGGACGCCTATGGGG	0.667													False	0	False	16:57803635	0	T	57803635	C	T	57803635	3	4	135	1	0	0	0	0	1	0	0	0	8364	536	19	1	1464	1	KIFC3	16	57803635	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	2075698	57803635	32551118	102	33430											
CDH11	1009	broad.mit.edu	37	chr16	65032559	65032559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccttgacaatgaattcCgacggtggctccagtggccg	13	11	0	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:65032559C>T	ENST00000394156.3	-	4	882	c.429G>A	c.(427-429)tcG>tcA	p.S143S	CDH11_ENST00000268603.4_Silent_p.S143S|CDH11_ENST00000566827.1_Silent_p.S17S			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	143	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAATGAATTCCGACGGTGGCT	0.557			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			False	0	False	16:65032559	0	T	65032559	C	T	65032559	2	4	135	1	0	0	0	0	0	0	0	1	3120	639	23	1		1	CDH11	16	65032559	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	7228924	65032559	25322194	103	33431											
FHOD1	29109	broad.mit.edu	37	chr16	67273270	67273270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatctcttcatagaagcCctccagcatctcccgctgct	6	17	3	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:67273270C>T	ENST00000258201.4	-	2	536	c.289G>A	c.(289-291)Ggc>Agc	p.G97S		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	97	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCATAGAAGCCCTCCAGCATC	0.582													False	0	True	16:67273270	0	T	67273270	C	T	67273270	3	4	135	1	0	0	0	0	1	0	0	0	5922	623	22	2	3289	2	FHOD1	16	67273270	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	2240711	67273270	23081483	104	33432											
SLC12A4	6560	broad.mit.edu	37	chr16	67980419	67980419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccacggagttatgccGcatgcctcccaggccacagg	11	16	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:67980419G>A	ENST00000422611.2	-	17	2404	c.2365C>T	c.(2365-2367)Cgg>Tgg	p.R789W	SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R787W	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	787					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGTTATGCCGCATGCCTCCC	0.652													False	0	False	16:67980419	0	A	67980419	G	A	67980419	3	1	135	1	0	0	0	0	1	0	0	0	14466	1086	38	1	926	1	SLC12A4	16	67980419	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	707149	67980419	22374334	105	33433											
WWP2	11060	broad.mit.edu	37	chr16	69832593	69832593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctcccagtggtgtccGcaaagcccaaggtgcataat	9	12	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:69832593G>A	ENST00000359154.2	+	3	180	c.79G>A	c.(79-81)Gca>Aca	p.A27T	WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000356003.2_Missense_Mutation_p.A27T|WWP2_ENST00000569174.1_Missense_Mutation_p.A27T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	27	C2.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGGTGTCCGCAAAGCCCAA	0.527											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	16:69832593	0	A	69832593	G	A	69832593	3	1	135	1	0	0	0	0	1	0	0	0	17500	1087	38	1	85	1	WWP2	16	69832593	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1852174	69832593	20522160	106	33434											
PLCG2	5336	broad.mit.edu	37	chr16	81942078	81942078	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggttccacaagaaggtggagAagaggacgagtgccgagaag	17	6	0	4			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:81942078A>T	ENST00000359376.3	+	17	1829	c.1615A>T	c.(1615-1617)Aag>Tag	p.K539*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	539	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAAGGTGGAGAAGAGGACGAG	0.547													False	0	False	16:81942078	0	T	81942078	A	T	81942078	4	4	135	1	0	0	0	0	0	1	0	0	12105	247	9	5	1677	5	PLCG2	16	81942078	Nonsense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	12109485	81942078	8412675	107	33435											
ZBTB4	57659	broad.mit.edu	37	chr17	7369754	7369754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaactccaggacccgggGtggggaagaagcagggggag	20	8	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:7369754G>A	ENST00000311403.4	-	3	706	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	ZBTB4_ENST00000380599.4_Missense_Mutation_p.P123S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	123	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGGACCCGGGGTGGGGAAGAA	0.592													False	0	True	17:7369754	0	A	7369754	G	A	7369754	3	1	135	1	0	0	0	0	1	0	0	0	17624	1261	44	2	2682	2	ZBTB4	17	7369754	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		7369754	73825456	108	33436											
KRT36	8689	broad.mit.edu	37	chr17	39643660	39643660	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaccgtacgtctcagctcGatgatctccgtctggcagca	10	13	3	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:39643660G>A	ENST00000393986.2	-	6	992	c.780C>T	c.(778-780)atC>atT	p.I260I	KRT36_ENST00000328119.6_Silent_p.I310I			O76013	KRT36_HUMAN	keratin 36	310	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GTCTCAGCTCGATGATCTCCG	0.627													False	0	False	17:39643660	0	A	39643660	G	A	39643660	2	1	135	1	0	0	0	0	0	0	0	1	8523	1048	37	1		1	KRT36	17	39643660	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	32273906	39643660	41551550	109	33437											
ARMC7	79637	broad.mit.edu	37	chr17	73124988	73124988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgcttcgcttctccctctCggccagcgccaggctccgga	10	18	2	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:73124988C>T	ENST00000245543.1	+	3	754	c.452C>T	c.(451-453)tCg>tTg	p.S151L	ARMC7_ENST00000581078.1_3'UTR|ARMC7_ENST00000579096.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	151							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			TTCTCCCTCTCGGCCAGCGCC	0.701													False	0	False	17:73124988	0	T	73124988	C	T	73124988	3	4	135	1	0	0	0	0	1	0	0	0	960	893	31	1	462	1	ARMC7	17	73124988	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	33481328	73124988	8070222	110	33438											
ENGASE	64772	broad.mit.edu	37	chr17	77081767	77081767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtttgcttctcacggccgcCgggtagtcgggaggaggaga	17	10	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:77081767C>T	ENST00000579016.1	+	13	1766	c.1766C>T	c.(1765-1767)cCg>cTg	p.P589L		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	589						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCACGGCCGCCGGGTAGTCGG	0.647													False	0	True	17:77081767	0	T	77081767	C	T	77081767	3	4	135	1	0	0	0	0	1	0	0	0	5150	652	23	1	1816	1	ENGASE	17	77081767	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	3956779	77081767	4113443	111	33439											
ENPP7	339221	broad.mit.edu	37	chr17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgccatggcccgagacGgggtgaaggcacgctacatg	16	11	0	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	61					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647													False	0	True	17:77705082	0	A	77705082	G	A	77705082	3	1	135	1	0	0	0	0	1	0	0	0	5167	1116	39	1	183	1	ENPP7	17	77705082	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	623315	77705082	3490128	112	33440											
GAA	2548	broad.mit.edu	37	chr17	78085870	78085870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaacctgcacaacctctaCggcctgaccgaagccatcgc	7	17	1	1	rs112517802		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:78085870C>T	ENST00000302262.3	+	12	1944	c.1725C>T	c.(1723-1725)taC>taT	p.Y575Y	GAA_ENST00000390015.3_Silent_p.Y575Y	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	575			Y -> S (in GSD2; juvenile form).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ACAACCTCTACGGCCTGACCG	0.657													False	0	False	17:78085870	0	T	78085870	C	T	78085870	2	4	135	1	0	0	0	0	0	0	0	1	6189	547	19	1		1	GAA	17	78085870	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	380788	78085870	3109340	113	33441											
CELF4	56853	broad.mit.edu	37	chr18	34854360	34854360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatctgctgcattcgccGcatcgtgcgctccttgtcgg	11	15	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr18:34854360G>A	ENST00000420428.2	-	6	1110	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	CELF4_ENST00000591282.1_Missense_Mutation_p.R239W|CELF4_ENST00000601019.1_Missense_Mutation_p.R238W|CELF4_ENST00000591287.1_Missense_Mutation_p.R238W|CELF4_ENST00000334919.5_Missense_Mutation_p.R229W|CELF4_ENST00000603232.1_Missense_Mutation_p.R239W|CELF4_ENST00000412753.1_Missense_Mutation_p.R239W|CELF4_ENST00000361795.5_Missense_Mutation_p.R238W|CELF4_ENST00000588597.1_Missense_Mutation_p.R228W|RP11-797E24.3_ENST00000588766.1_RNA	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	239	Necessary for TNNT2 exon 5 inclusion.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.R239W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGCATTCGCCGCATCGTGCGC	0.667													False	0	False	18:34854360	0	A	34854360	G	A	34854360	3	1	135	1	0	0	0	0	1	0	0	0	3241	1086	38	1	773	1	CELF4	18	34854360	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		34854360	43222888	114	33442											
RTTN	25914	broad.mit.edu	37	chr18	67721502	67721503	+	Frame_Shift_Ins	INS	-	-	AGCTTAATTGTTTTAGTTTAGAATGTAAG													ctggacaaagaggataggtaINSttccaggagaaaggaaacct							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr18:67721502_67721503insAGCTTAATTGTTTTAGTTTAGAATGTAAG	ENST00000255674.6	-	38	5335_5336	c.5049_5050insCTTACATTCTAAACTAAAACAATTAAGCT	c.(5047-5052)gaatacfs	p.Y1684fs	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1684							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GAGGATAGGTATTCCAGGAGAA	0.406													False	0	False	18:67721502	0	AGCTTAATTGTTTTAGTTTAGAATGTAAG	67721503	-	AGCTTAATTGTTTTAGTTTAGAATGTAAG	67721502	7	5	135	1	0	1	1	0	0	0	0	0	13816	449	16	0	1678	0	RTTN	18	67721502	Frame_Shift_Ins	INS	-	TCGA-US-A77E-01A-11D-A32N-08	32867142	67721502	10355746	115	33443											
MED16	10025	broad.mit.edu	37	chr19	868430	868430	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcacaggcagttcttgatCcagcgctgctcccactgctt	9	16	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:868430C>T	ENST00000312090.6	-	16	2676	c.2526G>A	c.(2524-2526)tgG>tgA	p.W842*	MED16_ENST00000325464.1_Nonsense_Mutation_p.W823*|MED16_ENST00000589119.1_Nonsense_Mutation_p.W823*|MED16_ENST00000395808.3_Nonsense_Mutation_p.W823*|MED16_ENST00000269814.4_3'UTR			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	823					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCTTGATCCAGCGCTGCT	0.667													False	0	False	19:868430	0	T	868430	C	T	868430	4	4	135	1	0	0	0	0	0	1	0	0	9501	856	30	2	172	2	MED16	19	868430	Nonsense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08		868430	58260553	116	33444											
PGLYRP2	114770	broad.mit.edu	37	chr19	15586705	15586705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccttggggtccaaaagcGtaaaggtccgaggggcagag	16	8	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:15586705G>A	ENST00000292609.4	-	2	905	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.T259M			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	259					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GTCCAAAAGCGTAAAGGTCCG	0.612													False	0	False	19:15586705	0	A	15586705	G	A	15586705	3	1	135	1	0	0	0	0	1	0	0	0	11863	1145	40	1	970	1	PGLYRP2	19	15586705	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	14718275	15586705	43542278	117	33445											
ZNF780A	284323	broad.mit.edu	37	chr19	40581535	40581535	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatatggttttacaccagAatgaatactctgatgttgaa	7	6	2	4			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:40581535A>C	ENST00000450241.2	-	6	1023	c.712T>G	c.(712-714)Tct>Gct	p.S238A	ZNF780A_ENST00000594395.1_Missense_Mutation_p.S273A|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.S273A|ZNF780A_ENST00000340963.5_Missense_Mutation_p.S272A|ZNF780A_ENST00000595687.2_Missense_Mutation_p.S272A			O75290	Z780A_HUMAN	zinc finger protein 780A	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S273A(1)|p.S238A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTTACACCAGAATGAATACTC	0.388													False	0	True	19:40581535	0	C	40581535	A	C	40581535	3	2	135	1	0	0	0	0	1	0	0	0	18234	246	9	4	1242	4	ZNF780A	19	40581535	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	24994830	40581535	18547448	118	33446											
SHKBP1	92799	broad.mit.edu	37	chr19	41096643	41096643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgccccccagcaggtggCctgacggagcaagagctgat	14	14	0	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:41096643C>T	ENST00000291842.5	+	17	1825	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	SHKBP1_ENST00000600733.1_Silent_p.G567G	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	592						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCAGGTGGCCTGACGGAGC	0.662													False	0	False	19:41096643	0	T	41096643	C	T	41096643	2	4	135	1	0	0	0	0	0	0	0	1	14365	726	26	2		2	SHKBP1	19	41096643	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	515108	41096643	18032340	119	33447											
PSG6	5675	broad.mit.edu	37	chr19	43411874	43411874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttaccctcggactgaccGggaggctctgaccatttagc	11	13	1	2	rs142652144	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:43411874G>A	ENST00000187910.2	-	4	904	c.839C>T	c.(838-840)cCg>cTg	p.P280L	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.P280L	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CGGACTGACCGGGAGGCTCTG	0.478													False	0	True	19:43411874	0	A	43411874	G	A	43411874	3	1	135	1	0	0	0	0	1	0	0	0	12735	1116	39	1	519	1	PSG6	19	43411874	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	2315231	43411874	15717109	120	33448											
C5AR1	728	broad.mit.edu	37	chr19	47823129	47823129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggataaaacttctaacaCgctgcgtgttccagacatcc	8	11	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:47823129C>T	ENST00000355085.3	+	2	117	c.95C>T	c.(94-96)aCg>aTg	p.T32M		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	32					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	p.T32M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACTTCTAACACGCTGCGTGTT	0.532													False	0	False	19:47823129	0	T	47823129	C	T	47823129	3	4	135	1	0	0	0	0	1	0	0	0	2298	536	19	1	100	1	C5AR1	19	47823129	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	4411255	47823129	11305854	121	33449											
NLRP4	147945	broad.mit.edu	37	chr19	56369561	56369561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagtttgctgaggaagAagatgctcccggaggcctcc	14	10	0	4			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:56369561A>G	ENST00000301295.6	+	3	1224	c.802A>G	c.(802-804)Aag>Gag	p.K268E	NLRP4_ENST00000346986.5_Missense_Mutation_p.K268E|NLRP4_ENST00000587891.1_Missense_Mutation_p.K193E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	268	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTGAGGAAGAAGATGCTCCC	0.592													False	0	False	19:56369561	0	G	56369561	A	G	56369561	3	3	135	1	0	0	0	0	1	0	0	0	10547	247	9	4	808	4	NLRP4	19	56369561	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	8546432	56369561	2759422	122	33450											
NLRP8	126205	broad.mit.edu	37	chr19	56467178	56467178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtctttcggtaataagaGgaaactgctgaaagtcatac	11	6	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:56467178G>A	ENST00000291971.3	+	3	1825	c.1754G>A	c.(1753-1755)aGg>aAg	p.R585K	NLRP8_ENST00000590542.1_Missense_Mutation_p.R585K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	585						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGTAATAAGAGGAAACTGCTG	0.498													False	0	False	19:56467178	0	A	56467178	G	A	56467178	3	1	135	1	0	0	0	0	1	0	0	0	10551	1000	35	2	1764	2	NLRP8	19	56467178	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	97617	56467178	2661805	123	33451											
INSM1	3642	broad.mit.edu	37	chr20	20350394	20350394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaacaagtgccacccatccGaaaacagacaggtgatcctc	7	14	1	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:20350394G>A	ENST00000310227.1	+	1	1630	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	495					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CCACCCATCCGAAAACAGACA	0.672													False	0	True	20:20350394	0	A	20350394	G	A	20350394	3	1	135	1	0	0	0	0	1	0	0	0	7821	1059	37	1	1485	1	INSM1	20	20350394	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		20350394	42675126	124	33452											
NNAT	4826	broad.mit.edu	37	chr20	36149750	36149750	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaccatggcggcagtggcggCggcctcggctgaactgctca	15	13	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:36149750C>G	ENST00000062104.2	+	1	134	c.17C>G	c.(16-18)gCg>gGg	p.A6G	BLCAP_ENST00000414542.2_5'UTR|NNAT_ENST00000346199.2_Missense_Mutation_p.A6G|BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000373537.2_Intron|BLCAP_ENST00000397135.1_Intron|BLCAP_ENST00000397137.1_Intron	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	6					brain development|protein lipoylation|transport					endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				GCAGTGGCGGCGGCCTCGGCT	0.627													False	0	True	20:36149750	0	G	36149750	C	G	36149750	3	3	135	1	0	0	0	0	1	0	0	0	10576	768	27	5	19	5	NNAT	20	36149750	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	15799356	36149750	26875770	125	33453											
PREX1	57580	broad.mit.edu	37	chr20	47324917	47324917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagggcactctggaccgCggggtggtctgggtgcttgc	18	11	2	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:47324917C>T	ENST00000396220.1	-	6	686	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	PREX1_ENST00000371941.3_Missense_Mutation_p.A222T			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	222	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCTGGACCGCGGGGTGGTCT	0.582													False	0	True	20:47324917	0	T	47324917	C	T	47324917	3	4	135	1	0	0	0	0	1	0	0	0	12552	768	27	1	4455	1	PREX1	20	47324917	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	11175167	47324917	15700603	126	33454											
GNAS	2778	broad.mit.edu	37	chr20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggacctgcttcgctgccGtgtcctgacttctggaatct	10	13	3	1	rs121913495		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:57484421G>A	ENST00000371100.4	+	8	3083	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			False	0	False	20:57484421	0	A	57484421	G	A	57484421	3	1	135	1	0	0	0	0	1	0	0	0	6555	1145	40	1	3449	1	GNAS	20	57484421	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	10159504	57484421	5541099	127	33455											
BAGE2	85319	broad.mit.edu	37	chr21	11039066	11039066	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtccatcaatccagtagaaAgttcagaatcttctttctgt	6	9	5	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:11039066A>G	ENST00000470054.1	-	0	1137									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCAGTAGAAAGTTCAGAATC	0.393													False	0	True	21:11039066	0	G	11039066	A	G	11039066	1	3	135	0	1	0	0	0	0	0	0	0	1296	87	3	4		4	BAGE2	21	11039066	RNA	SNP	A	TCGA-US-A77E-01A-11D-A32N-08		11039066	37090829	128	33456											
U2AF1	7307	broad.mit.edu	37	chr21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcggtttattgtgcaaccgaGagcacctgtctccatgacga	10	11	1	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"								False	0	False	21:44524456	0	A	44524456	G	A	44524456	3	1	135	1	0	0	0	0	1	0	0	0	16905	942	33	2	720	2	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	33485390	44524456	3605439	129	33457											
COL6A2	0	broad.mit.edu	37	chr21	47552344	47552344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggccttgggcagcgacGtggacatggacgtgctcacc	15	12	1	0	rs140020002		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:47552344G>A	ENST00000300527.4	+	28	3042	c.2938G>A	c.(2938-2940)Gtg>Atg	p.V980M		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	980	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGCAGCGACGTGGACATGGA	0.662													False	0	False	21:47552344	0	A	47552344	G	A	47552344	3	1	135	1	0	0	0	0	1	0	0	0	3723	1145	40	1	3374	1	COL6A2	21	47552344	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	3027888	47552344	577551	130	33458											
MCM3AP	8888	broad.mit.edu	37	chr21	47664991	47664991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcctctctcttctgtcatGgaaaaagcggccactaaact	7	13	4	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:47664991G>A	ENST00000397708.1	-	24	5022	c.4768C>T	c.(4768-4770)Cat>Tat	p.H1590Y	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.H1590Y|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1590					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTTCTGTCATGGAAAAAGCGG	0.552													False	0	False	21:47664991	0	A	47664991	G	A	47664991	3	1	135	1	0	0	0	0	1	0	0	0	9455	1348	47	2	1198	2	MCM3AP	21	47664991	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	112647	47664991	464904	131	33459											
KIF4A	24137	broad.mit.edu	37	chrX	69521814	69521814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcctgtttggaacaggGcaacaactctaggactgtgg	12	8	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:69521814G>A	ENST00000374403.3	+	6	663	c.581G>A	c.(580-582)gGc>gAc	p.G194D	KIF4A_ENST00000374388.3_Missense_Mutation_p.G194D	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	194	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TTGGAACAGGGCAACAACTCT	0.438													False	0	True	X:69521814	0	A	69521814	G	A	69521814	3	1	135	1	0	0	0	0	1	0	0	0	8353	1203	42	2	599	2	KIF4A	23	69521814	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		69521814	85748746	132	33460											
ATP7A	538	broad.mit.edu	37	chrX	77244909	77244909	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacaccagttaaatcctcagAagggtcacagcaaaggagtc	9	11	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:77244909A>T	ENST00000341514.6	+	4	946	c.791A>T	c.(790-792)gAa>gTa	p.E264V	ATP7A_ENST00000343533.5_Missense_Mutation_p.E264V|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	264					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAATCCTCAGAAGGGTCACAG	0.403													False	0	False	X:77244909	0	T	77244909	A	T	77244909	3	4	135	1	0	0	0	0	1	0	0	0	1194	246	9	5	801	5	ATP7A	23	77244909	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	7723095	77244909	78025651	133	33461											
DRP2	1821	broad.mit.edu	37	chrX	100500426	100500426	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcccaagatgacagagttaTaccaaaccctaggtaagaat	7	9	0	4			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:100500426T>A	ENST00000395209.3	+	11	1692	c.1165T>A	c.(1165-1167)Tac>Aac	p.Y389N	DRP2_ENST00000402866.1_Missense_Mutation_p.Y389N|DRP2_ENST00000541709.1_Missense_Mutation_p.Y311N|DRP2_ENST00000538510.1_Missense_Mutation_p.Y389N	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	389					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GACAGAGTTATACCAAACCCT	0.468													False	0	False	X:100500426	0	A	100500426	T	A	100500426	3	1	135	1	0	0	0	0	1	0	0	0	4794	1406	49	5	1199	5	DRP2	23	100500426	Missense_Mutation	SNP	T	TCGA-US-A77E-01A-11D-A32N-08	23255517	100500426	54770134	134	33462											
L1CAM	3897	broad.mit.edu	37	chrX	153134383	153134383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtacgtctgattgtccGcagtcaggatcttggctggc	12	11	3	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGATTGTCCGCAGTCAGGAT	0.617													False	0	False	X:153134383	0	A	153134383	G	A	153134383	3	1	135	1	0	0	0	0	1	0	0	0	8639	1087	38	1	2553	1	L1CAM	23	153134383	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	52633957	153134383	2136177	135	33463											
ACOT7	11332	broad.mit.edu	37	chr1	6409894	6409894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtccccccgtggacattgCcggccacgttggcatcatct	11	15	2	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:6409894C>T	ENST00000361521.4	-	2	1167	c.176G>A	c.(175-177)gGc>gAc	p.G59D	ACOT7_ENST00000377842.3_Missense_Mutation_p.G18D|ACOT7_ENST00000541130.1_Missense_Mutation_p.G39D|ACOT7_ENST00000377855.2_Missense_Mutation_p.G69D|ACOT7_ENST00000608083.1_Missense_Mutation_p.G27D|ACOT7_ENST00000545482.1_Intron|ACOT7_ENST00000377845.3_Missense_Mutation_p.G39D	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	69	Acyl coenzyme A hydrolase 1.					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GTGGACATTGCCGGCCACGTT	0.592													False	0	False	1:6409894	0	T	6409894	C	T	6409894	3	4	136	1	0	0	0	0	1	0	0	0	155	739	26	2	968	2	ACOT7	1	6409894	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		6409894	242840727	1	33464											
PADI3	51702	broad.mit.edu	37	chr1	17593248	17593248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcccagtgggtatggcgGcatcttgctggtgaactgtg	18	8	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:17593248G>A	ENST00000375460.3	+	5	483	c.443G>A	c.(442-444)gGc>gAc	p.G148D		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	148					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGGTATGGCGGCATCTTGCTG	0.597													False	0	False	1:17593248	0	A	17593248	G	A	17593248	3	1	136	1	0	0	0	0	1	0	0	0	11447	1203	42	2	461	2	PADI3	1	17593248	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	11183354	17593248	231657373	2	33465											
FOXD3	27022	broad.mit.edu	37	chr1	63789349	63789349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatcccccgcgagccggGcaacccgggcaagggcaact	13	16	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:63789349G>A	ENST00000371116.2	+	1	620	c.620G>A	c.(619-621)gGc>gAc	p.G207D	RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	207				GNPG -> ATRP (in Ref. 3; AAK13574).	axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CGCGAGCCGGGCAACCCGGGC	0.637													False	0	True	1:63789349	0	A	63789349	G	A	63789349	3	1	136	1	0	0	0	0	1	0	0	0	6038	1203	42	2	622	2	FOXD3	1	63789349	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	46196101	63789349	185461272	3	33466											
ANKRD34A	284615	broad.mit.edu	37	chr1	145474624	145474624	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccctctcaacgtcagtccCcaccctcccatccctgacat	3	23	2	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:145474624C>A	ENST00000323397.4	+	4	2589	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	432	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACGTCAGTCCCCACCCTCCCA	0.687													False	0	True	1:145474624	0	A	145474624	C	A	145474624	2	1	136	1	0	0	0	0	0	0	0	1	662	610	22	3		3	ANKRD34A	1	145474624	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	81685275	145474624	103775997	4	33467											
SPTA1	6708	broad.mit.edu	37	chr1	158605758	158605758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacaaactgagccagccGcaactggatctcctcttgcc	7	15	3	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:158605758G>A	ENST00000368147.4	-	38	5557	c.5377C>T	c.(5377-5379)Cgg>Tgg	p.R1793W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCCAGCCGCAACTGGATC	0.522													False	0	True	1:158605758	0	A	158605758	G	A	158605758	3	1	136	1	0	0	0	0	1	0	0	0	15198	1086	38	1	1942	1	SPTA1	1	158605758	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	13131134	158605758	90644863	5	33468											
C1orf27	54953	broad.mit.edu	37	chr1	186359978	186359979	+	Frame_Shift_Ins	INS	-	-	ACTATGATGTAGT													ctatactctggagaaaaataINScaaaggtaccagggtaaaat							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:186359978_186359979insACTATGATGTAGT	ENST00000287859.6	+	7	735_736	c.610_611insACTATGATGTAGT	c.(610-612)acafs	p.T204fs	C1orf27_ENST00000419367.3_Frame_Shift_Ins_p.T172fs|C1orf27_ENST00000367470.3_Frame_Shift_Ins_p.T204fs|C1orf27_ENST00000432021.3_Frame_Shift_Ins_p.T204fs	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	204						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GGAGAAAAATACAAAGGTACCA	0.351													False	0	True	1:186359978	0	ACTATGATGTAGT	186359979	-	ACTATGATGTAGT	186359978	7	5	136	1	0	1	1	0	0	0	0	0	2052	391	14	0	632	0	C1orf27	1	186359978	Frame_Shift_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08	27754220	186359978	62890643	6	33469											
TRIM67	440730	broad.mit.edu	37	chr1	231339743	231339743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagctggacgacggtgcCgggggacagttccgggtgag	20	9	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:231339743C>T	ENST00000444294.3	+	6	2517	c.1659C>T	c.(1657-1659)gcC>gcT	p.A553A	TRIM67_ENST00000366653.5_Silent_p.A555A|TRIM67_ENST00000366652.2_Silent_p.A555A|TRIM67_ENST00000449018.3_Silent_p.A493A	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	555	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ACGACGGTGCCGGGGGACAGT	0.627													False	0	True	1:231339743	0	T	231339743	C	T	231339743	2	4	136	1	0	0	0	0	0	0	0	1	16623	639	23	1		1	TRIM67	1	231339743	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	44979765	231339743	17910878	7	33470											
OR2T12	127064	broad.mit.edu	37	chr1	248458256	248458256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacaggatgagggaaaAggggaccaggagcattaaca	17	5	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:248458256A>G	ENST00000317996.1	-	1	624	c.625T>C	c.(625-627)Ttt>Ctt	p.F209L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F209L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATGAGGGAAAAGGGGACCAGG	0.547													False	0	True	1:248458256	0	G	248458256	A	G	248458256	3	3	136	1	0	0	0	0	1	0	0	0	11087	72	3	4	340	4	OR2T12	1	248458256	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	17118513	248458256	792365	8	33471											
DNMT3A	1788	broad.mit.edu	37	chr2	25471001	25471001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagccacagtgggggatgCggggtcagtgggctgctgca	20	8	1	0	rs146110707	by1000genomes	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:25471001C>T	ENST00000264709.3	-	7	1097	c.760G>A	c.(760-762)Gca>Aca	p.A254T	DNMT3A_ENST00000321117.5_Missense_Mutation_p.A254T|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A65T|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A31T	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	254	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGGGGATGCGGGGTCAGTG	0.627			"Mis, F, N, S"		AML								False	0	True	2:25471001	0	T	25471001	C	T	25471001	3	4	136	1	0	0	0	0	1	0	0	0	4706	768	27	1	2046	1	DNMT3A	2	25471001	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		25471001	217728372	9	33472											
ASPRV1	151516	broad.mit.edu	37	chr2	70187919	70187919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctttcagggtgcatgtgCggtgctcaaagtccaggata	12	10	2	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:70187919C>T	ENST00000320256.4	-	1	1478	c.902G>A	c.(901-903)cGc>cAc	p.R301H		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	301					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GGTGCATGTGCGGTGCTCAAA	0.557													False	0	False	2:70187919	0	T	70187919	C	T	70187919	3	4	136	1	0	0	0	0	1	0	0	0	1062	768	27	1	133	1	ASPRV1	2	70187919	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	44716918	70187919	173011454	10	33473											
IL18RAP	8807	broad.mit.edu	37	chr2	103068507	103068507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggttctgggccaaaatgCgctaccacatgcctgtgaaa	10	11	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:103068507C>T	ENST00000264260.2	+	12	2255	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R414C	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	556	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGCCAAAATGCGCTACCACAT	0.453													False	0	False	2:103068507	0	T	103068507	C	T	103068507	3	4	136	1	0	0	0	0	1	0	0	0	7698	768	27	1	1704	1	IL18RAP	2	103068507	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	32880588	103068507	140130866	11	33474											
ATG9A	79065	broad.mit.edu	37	chr2	220089227	220089227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgccaatccacaggatgCggttgctgaggcgctgggcc	15	12	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:220089227C>T	ENST00000409618.1	-	8	1305	c.866G>A	c.(865-867)cGc>cAc	p.R289H	ATG9A_ENST00000396761.2_Missense_Mutation_p.R289H|ATG9A_ENST00000361242.4_Missense_Mutation_p.R289H|ATG9A_ENST00000409422.1_Missense_Mutation_p.R228H			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	289					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACAGGATGCGGTTGCTGAG	0.567													False	0	False	2:220089227	0	T	220089227	C	T	220089227	3	4	136	1	0	0	0	0	1	0	0	0	1106	768	27	1	1689	1	ATG9A	2	220089227	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	117020720	220089227	23110146	12	33475											
GMPPA	29926	broad.mit.edu	37	chr2	220366590	220366590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtacctgcaggaatttgCccccctaggcacagggggtg	14	12	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:220366590C>T	ENST00000358215.3	+	5	629	c.260C>T	c.(259-261)gCc>gTc	p.A87V	GMPPA_ENST00000341142.3_Missense_Mutation_p.A87V|GMPPA_ENST00000373917.3_Missense_Mutation_p.A87V|GMPPA_ENST00000313597.5_Missense_Mutation_p.A87V|GMPPA_ENST00000373908.1_Missense_Mutation_p.A87V|AC053503.11_ENST00000429882.1_RNA	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	87					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CAGGAATTTGCCCCCCTAGGC	0.592													False	0	True	2:220366590	0	T	220366590	C	T	220366590	3	4	136	1	0	0	0	0	1	0	0	0	6539	739	26	2	274	2	GMPPA	2	220366590	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	277363	220366590	22832783	13	33476											
EFHD1	80303	broad.mit.edu	37	chr2	233546356	233546356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagctgagcaagatgagcGgaagcgggaggaggaggaga	20	4	0	4			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:233546356G>A	ENST00000264059.3	+	4	1124	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	EFHD1_ENST00000409613.1_Missense_Mutation_p.R120Q|EFHD1_ENST00000410095.1_Missense_Mutation_p.R104Q|EFHD1_ENST00000409708.1_Missense_Mutation_p.R104Q	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	216							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		CAAGATGAGCGGAAGCGGGAG	0.542													False	0	False	2:233546356	0	A	233546356	G	A	233546356	3	1	136	1	0	0	0	0	1	0	0	0	4978	1116	39	1	661	1	EFHD1	2	233546356	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	13179766	233546356	9653017	14	33477											
ATP2B2	491	broad.mit.edu	37	chr3	10417285	10417285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaaggtgtccacagtgaaGtagagcaccaggatgatcac	12	9	1	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:10417285G>A	ENST00000397077.1	-	10	1685	c.1110C>T	c.(1108-1110)taC>taT	p.Y370Y	ATP2B2_ENST00000343816.4_Silent_p.Y401Y|ATP2B2_ENST00000360273.2_Silent_p.Y415Y|ATP2B2_ENST00000383800.4_Silent_p.Y370Y|ATP2B2_ENST00000352432.4_Silent_p.Y415Y			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	415					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCACAGTGAAGTAGAGCACCA	0.557													False	0	False	3:10417285	0	A	10417285	G	A	10417285	2	1	136	1	0	0	0	0	0	0	0	1	1144	1024	36	2		2	ATP2B2	3	10417285	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		10417285	187605145	15	33478											
OXNAD1	92106	broad.mit.edu	37	chr3	16312479	16312479	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catggcctgtgctgctgttaTgattcctgggttgttgcggt	14	8	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:16312479T>G	ENST00000285083.5	+	3	485	c.20T>G	c.(19-21)aTg>aGg	p.M7R	OXNAD1_ENST00000606098.1_Missense_Mutation_p.M7R|OXNAD1_ENST00000435829.2_Missense_Mutation_p.M25R|OXNAD1_ENST00000544043.1_Missense_Mutation_p.M25R|OXNAD1_ENST00000605932.1_Missense_Mutation_p.M7R	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	7							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						GCTGCTGTTATGATTCCTGGG	0.458													False	0	False	3:16312479	0	G	16312479	T	G	16312479	3	3	136	1	0	0	0	0	1	0	0	0	11401	1464	51	4	22	4	OXNAD1	3	16312479	Missense_Mutation	SNP	T	TCGA-US-A77G-01A-11D-A32N-08	5895194	16312479	181709951	16	33479											
SCN5A	6331	broad.mit.edu	37	chr3	38639417	38639417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtagcgctgggcgagacGgttccagcatggtggacact	16	10	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:38639417G>A	ENST00000413689.1	-	14	2258	c.2065C>T	c.(2065-2067)Cgt>Tgt	p.R689C	SCN5A_ENST00000333535.4_Missense_Mutation_p.R689C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R689C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R689C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R689C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R689C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R689C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R689C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R689C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R689C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	689					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGGGCGAGACGGTTCCAGCAT	0.532													False	0	False	3:38639417	0	A	38639417	G	A	38639417	3	1	136	1	0	0	0	0	1	0	0	0	14003	1116	39	1	4045	1	SCN5A	3	38639417	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	22326938	38639417	159383013	17	33480											
PTPN23	25930	broad.mit.edu	37	chr3	47452686	47452686	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagcatggcggcactcagtCtcctgggggtgggcagcccc	15	15	2	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:47452686C>T	ENST00000265562.4	+	20	3475	c.3398C>T	c.(3397-3399)tCt>tTt	p.S1133F	PTPN23_ENST00000431726.1_Missense_Mutation_p.S1007F	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1133					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCACTCAGTCTCCTGGGGGT	0.711													False	0	False	3:47452686	0	T	47452686	C	T	47452686	3	4	136	1	0	0	0	0	1	0	0	0	12867	913	32	2	3476	2	PTPN23	3	47452686	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	8813269	47452686	150569744	18	33481											
LAMB2	3913	broad.mit.edu	37	chr3	49162783	49162783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattgcagacacatggccGgcagctagggaatccccact	10	15	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:49162783G>A	ENST00000418109.1	-	20	2787	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W	LAMB2_ENST00000305544.4_Missense_Mutation_p.R875W|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	875	Laminin EGF-like 7.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACACATGGCCGGCAGCTAGGG	0.597													False	0	False	3:49162783	0	A	49162783	G	A	49162783	3	1	136	1	0	0	0	0	1	0	0	0	8662	1115	39	1	2829	1	LAMB2	3	49162783	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	1710097	49162783	148859647	19	33482											
DNAH1	25981	broad.mit.edu	37	chr3	52383089	52383089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaacaatgacattgcctcCtttctcaagtgcgtacgtgt	7	11	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:52383089C>T	ENST00000420323.2	+	13	2553	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	764	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACATTGCCTCCTTTCTCAAGT	0.577													False	0	True	3:52383089	0	T	52383089	C	T	52383089	2	4	136	1	0	0	0	0	0	0	0	1	4627	668	24	2		2	DNAH1	3	52383089	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	3220306	52383089	145639341	20	33483											
GOLIM4	27333	broad.mit.edu	37	chr3	167728536	167728536	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtatcccggtcatacattttCatcattttcaccataggtct	5	11	5	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:167728536C>A	ENST00000470487.1	-	15	2625	c.1936G>T	c.(1936-1938)Gaa>Taa	p.E646*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.E618*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	646	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CATACATTTTCATCATTTTCA	0.378													False	0	True	3:167728536	0	A	167728536	C	A	167728536	4	1	136	1	0	0	0	0	0	1	0	0	6611	835	29	3	162	3	GOLIM4	3	167728536	Nonsense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	115345447	167728536	30293894	21	33484											
TLR1	7096	broad.mit.edu	37	chr4	38799732	38799732	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgataactttggatttgtttGaagtttcgccagaatactta	8	5	0	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:38799732G>A	ENST00000308979.2	-	4	994	c.721C>T	c.(721-723)Caa>Taa	p.Q241*	TLR1_ENST00000502213.2_Nonsense_Mutation_p.Q241*	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	241					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GGATTTGTTTGAAGTTTCGCC	0.348													False	0	True	4:38799732	0	A	38799732	G	A	38799732	4	1	136	1	0	0	0	0	0	1	0	0	16031	1299	45	2	1643	2	TLR1	4	38799732	Nonsense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		38799732	152354544	22	33485											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69337338	69337338	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcctcactcagttaaaattAaaagtaagttaatttctctt	3	7	3	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:69337338A>G	ENST00000305363.4	+	5	551	c.487A>G	c.(487-489)Aaa>Gaa	p.K163E		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	163	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGTTAAAATTAAAAGTAAGTT	0.308													False	0	True	4:69337338	0	G	69337338	A	G	69337338	3	3	136	1	0	0	0	0	1	0	0	0	16324	363	13	4	505	4	TMPRSS11E	4	69337338	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	30537606	69337338	121816938	23	33486											
PCDH18	54510	broad.mit.edu	37	chr4	138449640	138449640	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctaccctcttacctgctggaAttcttccatctgtgagaaac	6	13	3	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:138449640A>T	ENST00000344876.4	-	3	3118	c.2732T>A	c.(2731-2733)aTt>aAt	p.I911N	PCDH18_ENST00000510305.1_Missense_Mutation_p.I122N|PCDH18_ENST00000507846.1_Missense_Mutation_p.I690N|PCDH18_ENST00000511115.1_Missense_Mutation_p.I91N|PCDH18_ENST00000412923.2_Missense_Mutation_p.I910N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	911	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCTGCTGGAATTCTTCCATC	0.403													False	0	False	4:138449640	0	T	138449640	A	T	138449640	3	4	136	1	0	0	0	0	1	0	0	0	11581	101	4	5	683	5	PCDH18	4	138449640	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	69112302	138449640	52704636	24	33487											
SLC6A18	348932	broad.mit.edu	37	chr5	1244416	1244416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagattttcgacaattttgCcgcttccccgaacctgctca	8	13	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:1244416C>T	ENST00000324642.3	+	10	1547	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A373V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	475					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACAATTTTGCCGCTTCCCCG	0.582													False	0	False	5:1244416	0	T	1244416	C	T	1244416	3	4	136	1	0	0	0	0	1	0	0	0	14761	739	26	2	1462	2	SLC6A18	5	1244416	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		1244416	179670844	25	33488											
TERT	0	broad.mit.edu	37	chr5	1260644	1260644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagaccccaaagagtttgCgacgcatgttcctcccagcc	9	15	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:1260644C>T	ENST00000310581.5	-	12	2972	c.2915G>A	c.(2914-2916)cGc>cAc	p.R972H	TERT_ENST00000334602.6_Missense_Mutation_p.R909H|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	972	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AAAGAGTTTGCGACGCATGTT	0.562									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				False	0	False	5:1260644	0	T	1260644	C	T	1260644	3	4	136	1	0	0	0	0	1	0	0	0	15846	768	27	1	503	1	TERT	5	1260644	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	16228	1260644	179654616	26	33489											
SPEF2	79925	broad.mit.edu	37	chr5	35691186	35691187	+	Frame_Shift_Ins	INS	-	-	CCACCCT													aagaaatggttgacaatttaINSccaccctccaacaattgcat							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:35691186_35691187insCCACCCT	ENST00000440995.2	+	11	1572_1573	c.1572_1573insCCACCCT	c.(1573-1575)ccafs	p.-527fs	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Frame_Shift_Ins_p.-527fs|SPEF2_ENST00000509059.1_Frame_Shift_Ins_p.-527fs			Q9C093	SPEF2_HUMAN	sperm flagellar 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGACAATTTACCACCCTCCAA	0.396													False	1	False	5:35691186	0	CCACCCT	35691187	-	CCACCCT	35691186	7	5	136	1	0	1	1	0	0	0	0	0	15117	388	14	0	1635	0	SPEF2	5	35691186	Frame_Shift_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08	34430542	35691186	145224074	27	33490											
ENC1	8507	broad.mit.edu	37	chr5	73931388	73931388	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtctaccagatacaacttgTcacacatgaaagtctgtcct	7	11	3	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:73931388T>A	ENST00000302351.4	-	2	2053	c.923A>T	c.(922-924)gAc>gTc	p.D308V	ENC1_ENST00000537006.1_Missense_Mutation_p.D308V|ENC1_ENST00000510316.1_Missense_Mutation_p.D235V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	308					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ATACAACTTGTCACACATGAA	0.498													False	0	True	5:73931388	0	A	73931388	T	A	73931388	3	1	136	1	0	0	0	0	1	0	0	0	5145	1667	58	5	850	5	ENC1	5	73931388	Missense_Mutation	SNP	T	TCGA-US-A77G-01A-11D-A32N-08	38240202	73931388	106983872	28	33491											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	136	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-US-A77G-01A-11D-A32N-08	4679056	78610444	102304816	29	33492											
MSH3	4437	broad.mit.edu	37	chr5	79974874	79974874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccttcggccttgtccgaGcaaacagaggcgctcatcca	9	15	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:79974874G>A	ENST00000265081.6	+	8	1382	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	434					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCTTGTCCGAGCAAACAGAGG	0.478								Mismatch excision repair (MMR)					False	0	False	5:79974874	0	A	79974874	G	A	79974874	2	1	136	1	0	0	0	0	0	0	0	1	9938	962	34	2		2	MSH3	5	79974874	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	1364430	79974874	100940386	30	33493											
CHSY3	337876	broad.mit.edu	37	chr5	129520070	129520070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcataattacatgctcagccGcaaaatttctgaacttcgct	6	11	2	1	rs140992502		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:129520070G>A	ENST00000305031.4	+	3	1593	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	412						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATGCTCAGCCGCAAAATTTCT	0.478													False	0	False	5:129520070	0	A	129520070	G	A	129520070	3	1	136	1	0	0	0	0	1	0	0	0	3436	1087	38	1	1245	1	CHSY3	5	129520070	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	49545196	129520070	51395190	31	33494											
PCDHA7	0	broad.mit.edu	37	chr5	140216008	140216008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcaccaaaggcgtcgtcGcgggcatcgttgggcattgc	15	12	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140216008G>A	ENST00000525929.1	+	1	2040	c.2040G>A	c.(2038-2040)tcG>tcA	p.S680S	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.S680S|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGTCGTCGCGGGCATCGT	0.622													False	0	False	5:140216008	0	A	140216008	G	A	140216008	2	1	136	1	0	0	0	0	0	0	0	1	11597	1074	38	1		1	PCDHA7	5	140216008	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	10695938	140216008	40699252	32	33495											
PCDHA8	0	broad.mit.edu	37	chr5	140221029	140221029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccgaggaggccaaacaCggcaccttcgtgggccggat	14	14	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140221029C>T	ENST00000531613.1	+	1	123	c.123C>T	c.(121-123)caC>caT	p.H41H	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.H41H|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCAAACACGGCACCTTCG	0.672													False	0	False	5:140221029	0	T	140221029	C	T	140221029	2	4	136	1	0	0	0	0	0	0	0	1	11598	535	19	1		1	PCDHA8	5	140221029	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	5021	140221029	40694231	33	33496											
PCDHB4	0	broad.mit.edu	37	chr5	140503632	140503632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggcccaggccgactcTctcaccgtctacctggtggt	11	17	3	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140503632T>C	ENST00000194152.1	+	1	2052	c.2052T>C	c.(2050-2052)tcT>tcC	p.S684S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		684					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCGACTCTCTCACCGTCT	0.697													False	0	True	5:140503632	0	C	140503632	T	C	140503632	2	2	136	1	0	0	0	0	0	0	0	1	11612	1538	54	4		4	PCDHB4	5	140503632	Silent	SNP	T	TCGA-US-A77G-01A-11D-A32N-08	282603	140503632	40411628	34	33497											
PCDHB10	0	broad.mit.edu	37	chr5	140573626	140573626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacccgcacctgcccctcGcctccctggtctccatcaac	6	21	2	1	rs139403329		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140573626G>A	ENST00000239446.4	+	1	1685	c.1501G>A	c.(1501-1503)Gcc>Acc	p.A501T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		501	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.682													False	0	False	5:140573626	0	A	140573626	G	A	140573626	3	1	136	1	0	0	0	0	1	0	0	0	11603	1087	38	1	1503	1	PCDHB10	5	140573626	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	69994	140573626	40341634	35	33498											
PCDHGA8	0	broad.mit.edu	37	chr5	140773877	140773877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacacgctgcagggggcGcccctgtcctcgtatatctc	13	14	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140773877G>A	ENST00000398604.2	+	1	1497	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGGGGCGCCCCTGTCCT	0.562													False	0	True	5:140773877	0	A	140773877	G	A	140773877	2	1	136	1	0	0	0	0	0	0	0	1	11628	1074	38	1		1	PCDHGA8	5	140773877	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	200251	140773877	40141383	36	33499											
FAM71B	153745	broad.mit.edu	37	chr5	156589868	156589868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtttttatggccagatgCggaccggtgggaagacgctt	15	8	0	2	rs138175460		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:156589868C>T	ENST00000302938.4	-	2	1503	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	470						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCCAGATGCGGACCGGTGG	0.532													False	0	False	5:156589868	0	T	156589868	C	T	156589868	3	4	136	1	0	0	0	0	1	0	0	0	5648	768	27	1	413	1	FAM71B	5	156589868	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	15815991	156589868	24325392	37	33500											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114417	27114417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccttagaggagatgCcggtgtcggggtggacctgc	17	10	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:27114417C>T	ENST00000396891.4	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G54D	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAGGAGATGCCGGTGTCGGG	0.582													False	0	False	6:27114417	0	T	27114417	C	T	27114417	3	4	136	1	0	0	0	0	1	0	0	0	7197	739	26	2	223	2	HIST1H2BK	6	27114417	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		27114417	144000650	38	33501											
ZFP57	346171	broad.mit.edu	37	chr6	29641221	29641221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctccccaagatgcatgcGtctgtgatagctgagggact	11	12	2	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:29641221G>A	ENST00000376883.1	-	6	1018	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	ZFP57_ENST00000376881.3_Missense_Mutation_p.R203C|ZFP57_ENST00000488757.1_Missense_Mutation_p.R223C			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	139					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						AGATGCATGCGTCTGTGATAG	0.537													False	0	True	6:29641221	0	A	29641221	G	A	29641221	3	1	136	1	0	0	0	0	1	0	0	0	17734	1145	40	1	947	1	ZFP57	6	29641221	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2526804	29641221	141473846	39	33502											
IP6K3	117283	broad.mit.edu	37	chr6	33690692	33690692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctgcctggggagcctcGtgaggatgcgggctgcctgg	20	10	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:33690692G>A	ENST00000451316.1	-	7	1573	c.1038C>T	c.(1036-1038)caC>caT	p.H346H	IP6K3_ENST00000293756.4_Silent_p.H346H	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	346					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GGGGAGCCTCGTGAGGATGCG	0.557													False	0	False	6:33690692	0	A	33690692	G	A	33690692	2	1	136	1	0	0	0	0	0	0	0	1	7840	1136	40	1		1	IP6K3	6	33690692	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	4049471	33690692	137424375	40	33503											
STK38	11329	broad.mit.edu	37	chr6	36489591	36489591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctttcttctgaacaagccGtacctaaaaagttataaaag	5	8	3	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:36489591G>A	ENST00000229812.7	-	5	595	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	104	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAACAAGCCGTACCTAAAAA	0.353													False	0	False	6:36489591	0	A	36489591	G	A	36489591	3	1	136	1	0	0	0	0	1	0	0	0	15385	1144	40	1	1127	1	STK38	6	36489591	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2798899	36489591	134625476	41	33504											
RIMS1	0	broad.mit.edu	37	chr6	73102486	73102486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcccagcttgttggccGccaaacccttgccacccctg	8	19	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:73102486G>A	ENST00000264839.7	+	27	4139	c.4139G>A	c.(4138-4140)cGc>cAc	p.R1380H	RIMS1_ENST00000517827.1_Missense_Mutation_p.R665H|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000520567.1_Missense_Mutation_p.R1181H|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1314H|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1354H|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1314H|RIMS1_ENST00000522291.1_Missense_Mutation_p.R1130H|RIMS1_ENST00000538414.1_Missense_Mutation_p.R337H|RIMS1_ENST00000401910.3_Missense_Mutation_p.R851H|RIMS1_ENST00000414192.2_Missense_Mutation_p.R58H|RIMS1_ENST00000425662.2_Missense_Mutation_p.R599H|RIMS1_ENST00000518273.1_Missense_Mutation_p.R1210H|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1531H|RIMS1_ENST00000523963.1_Missense_Mutation_p.R656H			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1531	Ser-rich.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTTGTTGGCCGCCAAACCCTT	0.388													False	0	False	6:73102486	0	A	73102486	G	A	73102486	3	1	136	1	0	0	0	0	1	0	0	0	13446	1087	38	1	4877	1	RIMS1	6	73102486	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	36612895	73102486	98012581	42	33505											
GLI3	2737	broad.mit.edu	37	chr7	42005520	42005520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactggccgccctcgggccGcgtgtaattctgaagcacga	14	13	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr7:42005520G>A	ENST00000395925.3	-	15	3235	c.3151C>T	c.(3151-3153)Cgg>Tgg	p.R1051W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1051					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCCTCGGGCCGCGTGTAATTC	0.662									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	False	7:42005520	0	A	42005520	G	A	42005520	3	1	136	1	0	0	0	0	1	0	0	0	6484	1086	38	1	1595	1	GLI3	7	42005520	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		42005520	117133143	43	33506											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	136	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-US-A77G-01A-11D-A32N-08	2148258	44153778	114984885	44	33507											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805162	44805162	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagtccctgcccccagCgactaccctggccagggtaa	9	19	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr7:44805162C>G	ENST00000309315.4	+	16	2349	c.2226C>G	c.(2224-2226)agC>agG	p.S742R	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S716R|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S710R|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S684R|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S742R	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	742	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGCCCCCAGCGACTACCCTG	0.657													False	0	False	7:44805162	0	G	44805162	C	G	44805162	3	3	136	1	0	0	0	0	1	0	0	0	17780	767	27	5	2284	5	ZMIZ2	7	44805162	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	651384	44805162	114333501	45	33508											
TGS1	96764	broad.mit.edu	37	chr8	56699331	56699332	+	Frame_Shift_Ins	INS	-	-	A													aaaatgcatgaaagttgactINStagtatcttttccatcttca							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:56699331_56699332insA	ENST00000260129.5	+	4	1351_1352	c.874_875insA	c.(874-876)ttafs	p.L292fs		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	292					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GAAAGTTGACTTAGTATCTTTT	0.351													False	0	False	8:56699331	0	A	56699332	-	A	56699331	7	5	136	1	0	1	1	0	0	0	0	0	15919	1606	56	0	888	0	TGS1	8	56699331	Frame_Shift_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08		56699331	89664691	46	33509	386	2									
TGS1	96764	broad.mit.edu	37	chr8	56699333	56699334	+	Frame_Shift_Ins	INS	-	-	ATGTTGCTCCCATTCTTCCTTT													aatgcatgaaagttgacttaINSgtatcttttccatcttcacc							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:56699333_56699334insATGTTGCTCCCATTCTTCCTTT	ENST00000260129.5	+	4	1353_1354	c.876_877insATGTTGCTCCCATTCTTCCTTT	c.(877-879)gtafs	p.V293fs		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	293					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AAGTTGACTTAGTATCTTTTCC	0.347													False	0	False	8:56699333	0	ATGTTGCTCCCATTCTTCCTTT	56699334	-	ATGTTGCTCCCATTCTTCCTTT	56699333	7	5	136	1	0	1	1	0	0	0	0	0	15919	417	15	0	890	0	TGS1	8	56699333	Frame_Shift_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08	2	56699333	89664689	47	33510	386	2									
ARFGEF1	10565	broad.mit.edu	37	chr8	68170031	68170031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaacataagctgtatccGcactagcaaagagagtttgt	8	9	0	1	rs143470468		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:68170031G>A	ENST00000262215.3	-	17	2851	c.2462C>T	c.(2461-2463)gCg>gTg	p.A821V	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A275V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	821	SEC7.				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGCTGTATCCGCACTAGCAAA	0.328													False	0	False	8:68170031	0	A	68170031	G	A	68170031	3	1	136	1	0	0	0	0	1	0	0	0	854	1087	38	1	3179	1	ARFGEF1	8	68170031	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	11470698	68170031	78193991	48	33511											
SCRIB	23513	broad.mit.edu	37	chr8	144896264	144896264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgctcaggcccagcttgcGcaagttcagcagccggaaaa	12	13	2	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:144896264G>A	ENST00000356994.2	-	2	190	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	SCRIB_ENST00000320476.3_Missense_Mutation_p.R62C|SCRIB_ENST00000377533.3_5'UTR	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	62	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCCAGCTTGCGCAAGTTCAGC	0.617													False	0	False	8:144896264	0	A	144896264	G	A	144896264	3	1	136	1	0	0	0	0	1	0	0	0	14018	1087	38	1	4927	1	SCRIB	8	144896264	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	76726233	144896264	1467758	49	33512											
CDKN2A	1029	broad.mit.edu	37	chr9	21974679	21974679	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaccctctacccacctGgatcggcctccgaccgtaac	8	18	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:21974679G>A	ENST00000304494.5	-	1	418	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	50			Q -> R (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTACCCACCTGGATCGGCCTC	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			False	0	False	9:21974679	0	A	21974679	G	A	21974679	4	1	136	1	0	0	0	0	0	1	0	0	3184	1357	47	2	535	2	CDKN2A	9	21974679	Nonsense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		21974679	119238752	50	33513											
TJP2	9414	broad.mit.edu	37	chr9	71866162	71866162	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaggtgggagagagcaGtgaggagcaagataatgctc	18	4	0	4			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:71866162G>C	ENST00000377245.4	+	21	3411	c.3203G>C	c.(3202-3204)aGt>aCt	p.S1068T	TJP2_ENST00000453658.2_Intron|TJP2_ENST00000535702.1_Missense_Mutation_p.S1035T|TJP2_ENST00000348208.4_Intron|TJP2_ENST00000539225.1_Missense_Mutation_p.S1099T	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1068					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGAGAGAGCAGTGAGGAGCAA	0.512													False	0	False	9:71866162	0	C	71866162	G	C	71866162	3	2	136	1	0	0	0	0	1	0	0	0	16012	1029	36	5	3544	5	TJP2	9	71866162	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	49891483	71866162	69347269	51	33514											
PCSK5	5125	broad.mit.edu	37	chr9	78790148	78790148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatggaatgaaatggaatgGaatgaaatggaatggaatgg	15	0	0	2	rs68105355		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:78790148G>A	ENST00000376767.3	+	14	2515	c.2003G>A	c.(2002-2004)gGa>gAa	p.G668E	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						aaatggaatggaatgaaatgg	0.413													False	0	True	9:78790148	0	A	78790148	G	A	78790148	3	1	136	1	0	0	0	0	1	0	0	0	11671	1189	41	2		2	PCSK5	9	78790148	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	6923986	78790148	62423283	52	33515											
ASTN2	23245	broad.mit.edu	37	chr9	119568096	119568096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtttgtactcctccacGcaactgtatgataaaacaga	7	11	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:119568096G>A	ENST00000313400.4	-	13	2311	c.2211C>T	c.(2209-2211)tgC>tgT	p.C737C	ASTN2_ENST00000361209.2_Silent_p.C686C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.C733C			O75129	ASTN2_HUMAN	astrotactin 2	737	EGF-like 3.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTCCTCCACGCAACTGTATG	0.488													False	0	False	9:119568096	0	A	119568096	G	A	119568096	2	1	136	1	0	0	0	0	0	0	0	1	1069	1079	38	1		1	ASTN2	9	119568096	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	40777948	119568096	21645335	53	33516											
LHX2	9355	broad.mit.edu	37	chr9	126776246	126776246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcccttcgcagaccatgCcgtccatcagcagtgaccgc	8	19	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:126776246C>T	ENST00000373615.4	+	2	866	c.127C>T	c.(127-129)Ccg>Tcg	p.P43S		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	43						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GCAGACCATGCCGTCCATCAG	0.701													False	0	False	9:126776246	0	T	126776246	C	T	126776246	3	4	136	1	0	0	0	0	1	0	0	0	8823	739	26	2	133	2	LHX2	9	126776246	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	7208150	126776246	14437185	54	33517											
PKD2L1	9033	broad.mit.edu	37	chr10	102056026	102056026	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgagggttcggaatatgtgGaagcccacagccacaatgga	13	9	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr10:102056026G>A	ENST00000318222.3	-	7	1591	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	PKD2L1_ENST00000353274.3_Silent_p.F403F|PKD2L1_ENST00000338519.3_Silent_p.F328F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	403					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGAATATGTGGAAGCCCACAG	0.567													False	0	False	10:102056026	0	A	102056026	G	A	102056026	2	1	136	1	0	0	0	0	0	0	0	1	12036	1165	41	2		2	PKD2L1	10	102056026	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		102056026	33478721	55	33518											
KCNQ1	3784	broad.mit.edu	37	chr11	2549217	2549217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccatcgagcagtatgCcgccctggccacggggactc	12	16	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:2549217C>T	ENST00000155840.5	+	2	554	c.446C>T	c.(445-447)gCc>gTc	p.A149V	KCNQ1_ENST00000335475.5_Missense_Mutation_p.A22V	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	149					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GAGCAGTATGCCGCCCTGGCC	0.612													False	0	False	11:2549217	0	T	2549217	C	T	2549217	3	4	136	1	0	0	0	0	1	0	0	0	8132	739	26	2	461	2	KCNQ1	11	2549217	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		2549217	132457299	56	33519											
OR51A7	119687	broad.mit.edu	37	chr11	4929119	4929119	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatattgtcaaaagaatcttCtttctcactcatactgtctt	3	9	6	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:4929119C>T	ENST00000359350.4	+	1	520	c.520C>T	c.(520-522)Ctt>Ttt	p.L174F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGAATCTTCTTTCTCACTC	0.388													False	0	True	11:4929119	0	T	4929119	C	T	4929119	3	4	136	1	0	0	0	0	1	0	0	0	11156	913	32	2	522	2	OR51A7	11	4929119	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	2379902	4929119	130077397	57	33520											
MMP26	56547	broad.mit.edu	37	chr11	5009493	5009493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgccctggtgtttcgccGttccagtgccccctgctgca	10	16	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:5009493G>A	ENST00000380390.1	+	2	268	c.52G>A	c.(52-54)Gtt>Att	p.V18I	MMP26_ENST00000300762.1_Missense_Mutation_p.V18I|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	18					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGTTTCGCCGTTCCAGTGCC	0.493													False	0	False	11:5009493	0	A	5009493	G	A	5009493	3	1	136	1	0	0	0	0	1	0	0	0	9730	1145	40	1	54	1	MMP26	11	5009493	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	80374	5009493	129997023	58	33521											
HPX	3263	broad.mit.edu	37	chr11	6452915	6452915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagggcagataaaggccGcatccacagagtccaggata	11	12	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:6452915G>A	ENST00000265983.3	-	9	1185	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	362					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GATAAAGGCCGCATCCACAGA	0.557													False	0	False	11:6452915	0	A	6452915	G	A	6452915	3	1	136	1	0	0	0	0	1	0	0	0	7393	1087	38	1	311	1	HPX	11	6452915	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	1443422	6452915	128553601	59	33522											
CHST1	8534	broad.mit.edu	37	chr11	45671609	45671609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttgagccacgggggccGcatgaggccggtggacacgg	18	13	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:45671609G>A	ENST00000308064.2	-	4	1535	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	289					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CACGGGGGCCGCATGAGGCCG	0.617													False	0	False	11:45671609	0	A	45671609	G	A	45671609	3	1	136	1	0	0	0	0	1	0	0	0	3420	1086	38	1	374	1	CHST1	11	45671609	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	39218694	45671609	89334907	60	33523											
TRPC6	7225	broad.mit.edu	37	chr11	101375398	101375398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcagctgcatccaaaaagCgttcctcctctatagatagg	7	11	2	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:101375398C>T	ENST00000344327.3	-	2	726	c.302G>A	c.(301-303)cGc>cAc	p.R101H	TRPC6_ENST00000532133.1_Missense_Mutation_p.R101H|TRPC6_ENST00000348423.4_Missense_Mutation_p.R101H|TRPC6_ENST00000360497.4_Missense_Mutation_p.R101H	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	101					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATCCAAAAAGCGTTCCTCCTC	0.483													False	0	False	11:101375398	0	T	101375398	C	T	101375398	3	4	136	1	0	0	0	0	1	0	0	0	16666	768	27	1	2541	1	TRPC6	11	101375398	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	55703789	101375398	33631118	61	33524											
DSCAML1	57453	broad.mit.edu	37	chr11	117651507	117651507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacaaagtagaggctggtgCcaacatcttcagggcgggct	13	9	2	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:117651507C>T	ENST00000321322.6	-	2	246	c.245G>A	c.(244-246)gGc>gAc	p.G82D	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G22D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	22	Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAGGCTGGTGCCAACATCTTC	0.612													False	0	False	11:117651507	0	T	117651507	C	T	117651507	3	4	136	1	0	0	0	0	1	0	0	0	4799	739	26	2	6224	2	DSCAML1	11	117651507	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	16276109	117651507	17355009	62	33525											
B4GALNT3	283358	broad.mit.edu	37	chr12	667679	667679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatctgtccccaggacccGcacagcatcatcttcctctg	6	18	4	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:667679G>A	ENST00000266383.5	+	18	2626	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	871						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCAGGACCCGCACAGCATCA	0.587													False	0	True	12:667679	0	A	667679	G	A	667679	2	1	136	1	0	0	0	0	0	0	0	1	1272	1074	38	1		1	B4GALNT3	12	667679	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		667679	133184216	63	33526											
DCP1B	196513	broad.mit.edu	37	chr12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG													gctgctgctgctgctgctgcINStggtggagagtctgcggagg							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:2062350_2062351insTGG	ENST00000540622.1	-	4	435_436	c.377_378insCCA	c.(376-378)cag>caCCAg	p.125_126insH	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000280665.6_In_Frame_Ins_p.251_252insH|DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH			Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.55													False	2	True	12:2062350	0	TGG	2062351	-	TGG	2062350	7	5	136	1	0	1	1	0	0	0	0	0	4324	796	28	0	1109	0	DCP1B	12	2062350	In_Frame_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08	1394671	2062350	131789545	64	33527											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	136	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	23335935	25398285	108453610	65	33528											
SLC2A13	114134	broad.mit.edu	37	chr12	40158593	40158594	+	Frame_Shift_Ins	INS	-	-	GATAAACTATAATTTTTCAAATTTCTTACATGCTATTTTACTAAAGTTTT													agaagtgcagtccaggagtaINStggagtagggcagaaattgt							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:40158593_40158594insGATAAACTATAATTTTTCAAATTTCTTACATGCTATTTTACTAAAGTTTT	ENST00000280871.4	-	8	1562_1563	c.1512_1513insAAAACTTTAGTAAAATAGCATGTAAGAAATTTGAAAAATTATAGTTTATC	c.(1510-1515)ccatacfs	p.Y505fs		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	505						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GTCCAGGAGTATGGAGTAGGGC	0.337										HNSCC(50;0.14)			False	0	False	12:40158593	0	GATAAACTATAATTTTTCAAATTTCTTACATGCTATTTTACTAAAGTTTT	40158594	-	GATAAACTATAATTTTTCAAATTTCTTACATGCTATTTTACTAAAGTTTT	40158593	7	5	136	1	0	1	1	0	0	0	0	0	14622	449	16	0	445	0	SLC2A13	12	40158593	Frame_Shift_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08	14760308	40158593	93693302	66	33529											
SPRYD3	84926	broad.mit.edu	37	chr12	53462066	53462066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatccacgatgcttttgCccttccctaagtactccagc	5	17	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:53462066C>T	ENST00000301463.4	-	7	802	c.716G>A	c.(715-717)gGc>gAc	p.G239D	SPRYD3_ENST00000547837.1_Missense_Mutation_p.G276D	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	239										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GATGCTTTTGCCCTTCCCTAA	0.637													False	0	True	12:53462066	0	T	53462066	C	T	53462066	3	4	136	1	0	0	0	0	1	0	0	0	15191	739	26	2	632	2	SPRYD3	12	53462066	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	13303473	53462066	80389829	67	33530											
NCKAP1L	3071	broad.mit.edu	37	chr12	54917197	54917197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctacctaagcactgtgCcactacaatcagcaaagcca	6	14	2	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:54917197C>T	ENST00000293373.6	+	19	1977	c.1898C>T	c.(1897-1899)gCc>gTc	p.A633V	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.A583V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	633					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AAGCACTGTGCCACTACAATC	0.473													False	0	False	12:54917197	0	T	54917197	C	T	54917197	3	4	136	1	0	0	0	0	1	0	0	0	10290	739	26	2	1972	2	NCKAP1L	12	54917197	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	1455131	54917197	78934698	68	33531											
ARHGAP9	64333	broad.mit.edu	37	chr12	57868253	57868253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcccatcggaggtgaccGcacgctctgcaacatgaatg	10	14	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:57868253G>A	ENST00000393797.2	-	18	2198	c.2006C>T	c.(2005-2007)gCg>gTg	p.A669V	ARHGAP9_ENST00000356411.2_Missense_Mutation_p.A598V|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.A579V|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.A658V|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.A395V|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.A579V			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	598	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGAGGTGACCGCACGCTCTGC	0.517													False	0	False	12:57868253	0	A	57868253	G	A	57868253	3	1	136	1	0	0	0	0	1	0	0	0	891	1087	38	1	475	1	ARHGAP9	12	57868253	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2951056	57868253	75983642	69	33532											
MON2	23041	broad.mit.edu	37	chr12	62936898	62936898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccatctctttttgctgttGccaaattgttagaaactggt	7	8	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:62936898G>T	ENST00000393630.3	+	20	2777	c.2386G>T	c.(2386-2388)Gcc>Tcc	p.A796S	MON2_ENST00000546600.1_Missense_Mutation_p.A796S|MON2_ENST00000393629.2_Missense_Mutation_p.A796S|MON2_ENST00000552115.1_Missense_Mutation_p.A796S|MON2_ENST00000280379.6_Missense_Mutation_p.A796S|MON2_ENST00000393632.2_Missense_Mutation_p.A796S|MON2_ENST00000552738.1_Missense_Mutation_p.A773S	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	796					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTTGCTGTTGCCAAATTGTT	0.333													False	0	False	12:62936898	0	T	62936898	G	T	62936898	3	4	136	1	0	0	0	0	1	0	0	0	9767	1319	46	3	2464	3	MON2	12	62936898	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	5068645	62936898	70914997	70	33533											
GNS	2799	broad.mit.edu	37	chr12	65113959	65113959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagattatagacttctacaaAcacctagaggacatgaaaga	7	8	1	5			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:65113959A>G	ENST00000258145.3	-	13	1593	c.1423T>C	c.(1423-1425)Ttt>Ctt	p.F475L	GNS_ENST00000543646.1_Missense_Mutation_p.F507L|GNS_ENST00000418919.2_Missense_Mutation_p.F419L|GNS_ENST00000542058.1_Missense_Mutation_p.F455L	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	475						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACTTCTACAAACACCTAGAGG	0.408													False	0	True	12:65113959	0	G	65113959	A	G	65113959	3	3	136	1	0	0	0	0	1	0	0	0	6595	43	2	4	243	4	GNS	12	65113959	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	2177061	65113959	68737936	71	33534											
UTP20	27340	broad.mit.edu	37	chr12	101760468	101760468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcacatatttattgagtcCgggcttcgggtaagaattaa	10	6	0	2	rs112368779		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:101760468C>T	ENST00000261637.4	+	47	6432	c.6258C>T	c.(6256-6258)tcC>tcT	p.S2086S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2086					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTATTGAGTCCGGGCTTCGGG	0.458													False	0	True	12:101760468	0	T	101760468	C	T	101760468	2	4	136	1	0	0	0	0	0	0	0	1	17183	639	23	1		1	UTP20	12	101760468	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	36646509	101760468	32091427	72	33535											
NOS1	4842	broad.mit.edu	37	chr12	117658040	117658040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcggtacacagactccGccagctgctcctgcaggatg	13	14	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:117658040G>A	ENST00000317775.6	-	27	4695	c.4010C>T	c.(4009-4011)gCg>gTg	p.A1337V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.A1371V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1337					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CACAGACTCCGCCAGCTGCTC	0.597													False	0	False	12:117658040	0	A	117658040	G	A	117658040	3	1	136	1	0	0	0	0	1	0	0	0	10609	1087	38	1	306	1	NOS1	12	117658040	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	15897572	117658040	16193855	73	33536											
GOLGA3	2802	broad.mit.edu	37	chr12	133381515	133381515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagctcagcgaatcctgccGctgctggctgctgtggctgc	14	14	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:133381515G>A	ENST00000204726.3	-	7	1942	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	GOLGA3_ENST00000537452.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R462W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R462W	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	462					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GAATCCTGCCGCTGCTGGCTG	0.612													False	0	False	12:133381515	0	A	133381515	G	A	133381515	3	1	136	1	0	0	0	0	1	0	0	0	6599	1086	38	1	3322	1	GOLGA3	12	133381515	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	15723475	133381515	470380	74	33537											
SLC46A3	283537	broad.mit.edu	37	chr13	29284936	29284936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttttgacaacatggaccGtagaacagagaatggcacaa	9	9	0	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr13:29284936G>A	ENST00000266943.6	-	4	1474	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	SLC46A3_ENST00000380814.4_Missense_Mutation_p.R369W	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	369					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AACATGGACCGTAGAACAGAG	0.398													False	0	False	13:29284936	0	A	29284936	G	A	29284936	3	1	136	1	0	0	0	0	1	0	0	0	14726	1144	40	1	306	1	SLC46A3	13	29284936	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		29284936	85884942	75	33538											
SOHLH2	54937	broad.mit.edu	37	chr13	36744911	36744911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatagcattctctgaggcGgagcttgatggaactttaat	10	8	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr13:36744911G>A	ENST00000379881.3	-	10	1102	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	SOHLH2_ENST00000554962.1_Silent_p.S415S|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S415S	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TCTCTGAGGCGGAGCTTGATG	0.388													False	0	False	13:36744911	0	A	36744911	G	A	36744911	2	1	136	1	0	0	0	0	0	0	0	1	15004	1103	39	1		1	SOHLH2	13	36744911	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	7459975	36744911	78424967	76	33539											
DIAPH3	81624	broad.mit.edu	37	chr13	60557994	60557994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacaatctgggatacacaCtcatcaattaatttgaagta	5	7	3	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr13:60557994C>T	ENST00000400324.4	-	13	1609	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	DIAPH3_ENST00000267215.4_Silent_p.E463E|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Silent_p.E463E|DIAPH3_ENST00000377908.2_Silent_p.E452E|DIAPH3_ENST00000400320.1_Silent_p.E417E|DIAPH3_ENST00000400319.1_Silent_p.E393E	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	463	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GGGATACACACTCATCAATTA	0.313													False	0	True	13:60557994	0	T	60557994	C	T	60557994	2	4	136	1	0	0	0	0	0	0	0	1	4550	564	20	2		2	DIAPH3	13	60557994	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	23813083	60557994	54611884	77	33540											
C14orf93	60686	broad.mit.edu	37	chr14	23467783	23467783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatcaccacctgcacgccGctgcccacgctgtcacactc	6	20	3	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:23467783G>A	ENST00000299088.6	-	2	879	c.450C>T	c.(448-450)agC>agT	p.S150S	C14orf93_ENST00000406429.2_Silent_p.S150S|C14orf93_ENST00000397377.1_5'UTR|C14orf93_ENST00000341470.4_Silent_p.S150S|C14orf93_ENST00000397382.4_Silent_p.S150S|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Silent_p.S150S	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	150						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CCTGCACGCCGCTGCCCACGC	0.637													False	0	False	14:23467783	0	A	23467783	G	A	23467783	2	1	136	1	0	0	0	0	0	0	0	1	1791	1078	38	1		1	C14orf93	14	23467783	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		23467783	83881757	78	33541											
FANCM	57697	broad.mit.edu	37	chr14	45658329	45658329	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttaagaagaacaaacaacagGaccattgtttaaattcagtg	7	6	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:45658329G>T	ENST00000267430.5	+	20	5189	c.5104G>T	c.(5104-5106)Gac>Tac	p.D1702Y	FANCM_ENST00000542564.2_Missense_Mutation_p.D1676Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1702					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAAACAACAGGACCATTGTTT	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	14:45658329	0	T	45658329	G	T	45658329	3	4	136	1	0	0	0	0	1	0	0	0	5711	1174	41	3	5182	3	FANCM	14	45658329	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	22190546	45658329	61691211	79	33542											
DYNC1H1	1778	broad.mit.edu	37	chr14	102482730	102482730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtccctgtctggagacagCcggctaaaaatgagagcaga	13	9	1	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:102482730C>T	ENST00000360184.4	+	37	7682	c.7518C>T	c.(7516-7518)agC>agT	p.S2506S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2506					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGGAGACAGCCGGCTAAAAA	0.418													False	0	False	14:102482730	0	T	102482730	C	T	102482730	2	4	136	1	0	0	0	0	0	0	0	1	4871	738	26	2		2	DYNC1H1	14	102482730	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	56824401	102482730	4866810	80	33543											
PGBD4	161779	broad.mit.edu	37	chr15	34396066	34396066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttcttatccatctgagcGcaaaagacacaaggtttggt	8	9	2	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:34396066G>A	ENST00000397766.2	+	1	1793	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	445										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CCATCTGAGCGCAAAAGACAC	0.413													False	0	False	15:34396066	0	A	34396066	G	A	34396066	3	1	136	1	0	0	0	0	1	0	0	0	11852	1087	38	1	1336	1	PGBD4	15	34396066	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		34396066	68135326	81	33544											
GPR176	11245	broad.mit.edu	37	chr15	40093625	40093625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggggtggggcagagggcGcaaactgtggcccctgctct	17	11	2	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:40093625G>A	ENST00000299092.3	-	4	1451	c.1253C>T	c.(1252-1254)gCg>gTg	p.A418V	GPR176_ENST00000561100.1_Missense_Mutation_p.A419V|GPR176_ENST00000543580.1_Missense_Mutation_p.A374V	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	419					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGCAGAGGGCGCAAACTGTGG	0.577													False	0	False	15:40093625	0	A	40093625	G	A	40093625	3	1	136	1	0	0	0	0	1	0	0	0	6719	1087	38	1	295	1	GPR176	15	40093625	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	5697559	40093625	62437767	82	33545											
TLN2	83660	broad.mit.edu	37	chr15	63088384	63088384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaacccaggcatgcattaCagccgccaccgctgtgtctg	11	14	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:63088384C>A	ENST00000561311.1	+	46	6172	c.5942C>A	c.(5941-5943)aCa>aAa	p.T1981K	TLN2_ENST00000306829.6_Missense_Mutation_p.T1981K			Q9Y4G6	TLN2_HUMAN	talin 2	1981					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCATGCATTACAGCCGCCACC	0.562													False	0	False	15:63088384	0	A	63088384	C	A	63088384	3	1	136	1	0	0	0	0	1	0	0	0	16030	478	17	3	6116	3	TLN2	15	63088384	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	22994759	63088384	39443008	83	33546											
CYP1A2	1544	broad.mit.edu	37	chr15	75043540	75043540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccctcagaacagtgtccGggacatcacgggtgccctgt	12	15	2	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:75043540G>A	ENST00000343932.4	+	3	905	c.842G>A	c.(841-843)cGg>cAg	p.R281Q		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	281			R -> W (in dbSNP:rs45468096).		alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AACAGTGTCCGGGACATCACG	0.577													False	0	True	15:75043540	0	A	75043540	G	A	75043540	3	1	136	1	0	0	0	0	1	0	0	0	4175	1116	39	1	848	1	CYP1A2	15	75043540	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	11955156	75043540	27487852	84	33547											
WDR90	197335	broad.mit.edu	37	chr16	711075	711075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcctacacgtgcggccGcctggtggtggtggaggacc	16	12	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:711075G>A	ENST00000549091.1	+	29	3508	c.3416G>A	c.(3415-3417)cGc>cAc	p.R1139H	WDR90_ENST00000293879.4_Missense_Mutation_p.R1139H	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1139										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACGTGCGGCCGCCTGGTGGTG	0.746													False	0	False	16:711075	0	A	711075	G	A	711075	3	1	136	1	0	0	0	0	1	0	0	0	17421	1087	38	1	3530	1	WDR90	16	711075	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		711075	89643678	85	33548											
KIAA0556	23247	broad.mit.edu	37	chr16	27640032	27640032	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcaattgaggctggagcActtggagcaaggtttctctg	14	8	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:27640032A>G	ENST00000261588.4	+	4	210	c.191A>G	c.(190-192)cAc>cGc	p.H64R		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	64										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGCTGGAGCACTTGGAGCAA	0.488													False	0	False	16:27640032	0	G	27640032	A	G	27640032	3	3	136	1	0	0	0	0	1	0	0	0	8233	159	6	4	205	4	KIAA0556	16	27640032	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	26928957	27640032	62714721	86	33549											
HAS3	3038	broad.mit.edu	37	chr16	69148721	69148721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcttttctaccggggccGcatctggaacattctcctct	8	14	4	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:69148721G>A	ENST00000306560.1	+	4	1370	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	HAS3_ENST00000569188.1_Missense_Mutation_p.R405H|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	405					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	p.R405H(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TACCGGGGCCGCATCTGGAAC	0.542													False	0	False	16:69148721	0	A	69148721	G	A	69148721	3	1	136	1	0	0	0	0	1	0	0	0	7010	1087	38	1	1224	1	HAS3	16	69148721	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	41508689	69148721	21206032	87	33550											
ATP2C2	9914	broad.mit.edu	37	chr16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtgttgccaacaatgCggtcatcagaaagaacgccg	13	10	2	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:84476138C>T	ENST00000416219.2	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552													False	0	False	16:84476138	0	T	84476138	C	T	84476138	3	4	136	1	0	0	0	0	1	0	0	0	1148	768	27	1	1392	1	ATP2C2	16	84476138	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	15327417	84476138	5878615	88	33551											
JPH3	57338	broad.mit.edu	37	chr16	87636931	87636931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctggcccagcggcaacaCgtaccagggcacctgggcgc	13	17	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:87636931C>A	ENST00000284262.2	+	1	421	c.179C>A	c.(178-180)aCg>aAg	p.T60K		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	60	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGCGGCAACACGTACCAGGGC	0.677													False	0	False	16:87636931	0	A	87636931	C	A	87636931	3	1	136	1	0	0	0	0	1	0	0	0	8012	536	19	3	181	3	JPH3	16	87636931	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	3160793	87636931	2717822	89	33552											
USP43	124739	broad.mit.edu	37	chr17	9631939	9631939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcacccttctgaggtccGtgtttcggaagaaggagaac	11	11	2	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:9631939G>A	ENST00000285199.7	+	15	3100	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	USP43_ENST00000570475.1_Missense_Mutation_p.V997M|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TCTGAGGTCCGTGTTTCGGAA	0.602													False	0	False	17:9631939	0	A	9631939	G	A	9631939	3	1	136	1	0	0	0	0	1	0	0	0	17158	1145	40	1	3062	1	USP43	17	9631939	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		9631939	71563271	90	33553											
MYO1D	4642	broad.mit.edu	37	chr17	31082528	31082528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttcggctggaaaaatgGgcgtgtttgcccaatttact	10	9	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:31082528G>A	ENST00000318217.5	-	11	1753	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A	MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Silent_p.A395A|MYO1D_ENST00000579584.1_Silent_p.A483A	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	483	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TGGAAAAATGGGCGTGTTTGC	0.393													False	0	True	17:31082528	0	A	31082528	G	A	31082528	2	1	136	1	0	0	0	0	0	0	0	1	10138	1219	43	2		2	MYO1D	17	31082528	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	21450589	31082528	50112682	91	33554											
KRTAP3-1	83896	broad.mit.edu	37	chr17	39165249	39165249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaggcagactccacagcgGcagcttttatcaaatgagca	11	10	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:39165249G>A	ENST00000391588.1	-	1	117	c.78C>T	c.(76-78)tgC>tgT	p.C26C	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	26	4 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				CTCCACAGCGGCAGCTTTTAT	0.592													False	0	False	17:39165249	0	A	39165249	G	A	39165249	2	1	136	1	0	0	0	0	0	0	0	1	8596	1195	42	2		2	KRTAP3-1	17	39165249	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	8082721	39165249	42029961	92	33555											
DHX8	1659	broad.mit.edu	37	chr17	41601211	41601211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcgagctttccgacggcGctgaaaggcaagattgttcc	11	11	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:41601211G>A	ENST00000262415.3	+	23	3731	c.3659G>A	c.(3658-3660)cGc>cAc	p.R1220H	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1220						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TTCCGACGGCGCTGAAAGGCA	0.517													False	0	False	17:41601211	0	A	41601211	G	A	41601211	3	1	136	1	0	0	0	0	1	0	0	0	4545	1087	38	1	3749	1	DHX8	17	41601211	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2435962	41601211	39593999	93	33556											
SMAD4	4089	broad.mit.edu	37	chr18	48604742	48604743	+	Frame_Shift_Del	DEL	CC	CC	-													gacagagcatcaaagaaacaCcttgctggattgaaattcac							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr18:48604742_48604743delCC	ENST00000588745.1	+	8	1276_1277	c.1276_1277delCC	c.(1276-1278)cctfs	p.P426fs	SMAD4_ENST00000342988.3_Frame_Shift_Del_p.P522fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P522fs|SMAD4_ENST00000586253.1_3'UTR			Q13485	SMAD4_HUMAN	SMAD family member 4	522	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CAAAGAAACACCTTGCTGGATT	0.48													False	2	False	18:48604742	0	-	48604743	CC	-	48604742	7	5	136	1	0	1	0	1	0	0	0	0	14840	507	18	0	1606	0	SMAD4	18	48604742	Frame_Shift_Del	DEL	CC	TCGA-US-A77G-01A-11D-A32N-08		48604742	29472506	94	33557											
C3	718	broad.mit.edu	37	chr19	6719298	6719298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacagcactagttttttgCctgggaagtcgtggacagta	13	7	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:6719298C>T	ENST00000245907.6	-	2	283	c.191G>A	c.(190-192)gGc>gAc	p.G64D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	64					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TAGTTTTTTGCCTGGGAAGTC	0.592													False	0	False	19:6719298	0	T	6719298	C	T	6719298	3	4	136	1	0	0	0	0	1	0	0	0	2220	739	26	2	4960	2	C3	19	6719298	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		6719298	52409685	95	33558											
MUC16	94025	broad.mit.edu	37	chr19	9068999	9069000	+	Frame_Shift_Ins	INS	-	-	TCAGAAACAACCAGTGTCATGAACA													cgatggtcttgtgtgtagatINSattgtcaagggaggagagtt					rs114426214	by1000genomes	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:9068999_9069000insTCAGAAACAACCAGTGTCATGAACA	ENST00000397910.4	-	3	18649_18650	c.18446_18447insTGTTCATGACACTGGTTGTTTCTGA	c.(18445-18447)atafs	p.-6149fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGTGTAGATATTGTCAAGGG	0.495													False	0	False	19:9068999	0	TCAGAAACAACCAGTGTCATGAACA	9069000	-	TCAGAAACAACCAGTGTCATGAACA	9068999	7	5	136	1	0	1	1	0	0	0	0	0	10040	1396	49	0	25404	0	MUC16	19	9068999	Frame_Shift_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08	2349701	9068999	50059984	96	33559											
PSG7	5676	broad.mit.edu	37	chr19	43433639	43433639	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcggctggcactcactgGgttccgtatttcacattcat	9	12	3	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:43433639G>T	ENST00000406070.2	-	0	760				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GCACTCACTGGGTTCCGTATT	0.507													False	0	True	19:43433639	0	T	43433639	G	T	43433639	1	4	136	0	1	0	0	0	0	0	0	0	12736	1232	43	3		3	PSG7	19	43433639	RNA	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	34364640	43433639	15695344	97	33560											
KCNA7	3743	broad.mit.edu	37	chr19	49573549	49573549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaatagtcagcacgcccGcaatggcacacagagagccc	12	13	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:49573549G>A	ENST00000221444.1	-	2	1497	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	381						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CAGCACGCCCGCAATGGCACA	0.557													False	0	True	19:49573549	0	A	49573549	G	A	49573549	3	1	136	1	0	0	0	0	1	0	0	0	8058	1087	38	1	232	1	KCNA7	19	49573549	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	6139910	49573549	9555434	98	33561											
NLRP8	126205	broad.mit.edu	37	chr19	56490816	56490816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatggcttccatgctccGcaaaaaccaacatctgagac	8	14	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:56490816G>A	ENST00000291971.3	+	9	3004	c.2933G>A	c.(2932-2934)cGc>cAc	p.R978H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R959H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	978						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCATGCTCCGCAAAAACCAA	0.498													False	0	False	19:56490816	0	A	56490816	G	A	56490816	3	1	136	1	0	0	0	0	1	0	0	0	10551	1087	38	1	2967	1	NLRP8	19	56490816	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	6917267	56490816	2638167	99	33562											
C20orf26	26074	broad.mit.edu	37	chr20	20071525	20071525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcatgccaatatttatgCgctatgacacaattctgaag	6	9	2	2	rs139381407		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:20071525C>T	ENST00000245957.5	+	7	680	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.R202C|C20orf26_ENST00000377306.1_Missense_Mutation_p.R202C	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	202										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AATATTTATGCGCTATGACAC	0.433													False	0	False	20:20071525	0	T	20071525	C	T	20071525	3	4	136	1	0	0	0	0	1	0	0	0	2122	768	27	1	626	1	C20orf26	20	20071525	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		20071525	42953995	100	33563											
PREX1	57580	broad.mit.edu	37	chr20	47247332	47247332	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccgctccaggtaaaatgcCctgcgagagaaagatgggaa	13	9	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:47247332C>A	ENST00000396220.1	-	35	4653	c.4631G>T	c.(4630-4632)gGg>gTg	p.G1544V	PREX1_ENST00000371941.3_Splice_Site_p.R1509S			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	0					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGTAAAATGCCCTGCGAGAGA	0.622													False	0	True	20:47247332	0	A	47247332	C	A	47247332	5	1	136	1	0	0	0	0	0	0	1	0	12552	637	22	3	472	3	PREX1	20	47247332	Splice_Site	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	27175807	47247332	15778188	101	33564											
MC3R	4159	broad.mit.edu	37	chr20	54824819	54824819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccggagcctggaattgcGcaacacctttagggagattc	11	10	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:54824819G>A	ENST00000243911.2	+	1	1032	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGGAATTGCGCAACACCTTT	0.517													False	0	False	20:54824819	0	A	54824819	G	A	54824819	3	1	136	1	0	0	0	0	1	0	0	0	9432	1087	38	1	922	1	MC3R	20	54824819	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	7577487	54824819	8200701	102	33565											
MYT1	4661	broad.mit.edu	37	chr20	62843476	62843476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcacgtgaacagcaaccGcaacacgcacagaaggtact	11	12	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:62843476G>A	ENST00000536311.1	+	9	1866	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	MYT1_ENST00000328439.1_Missense_Mutation_p.R501H|MYT1_ENST00000360149.4_Missense_Mutation_p.R203H			Q01538	MYT1_HUMAN	myelin transcription factor 1	501					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R501H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AACAGCAACCGCAACACGCAC	0.662													False	0	False	20:62843476	0	A	62843476	G	A	62843476	3	1	136	1	0	0	0	0	1	0	0	0	10173	1087	38	1	1528	1	MYT1	20	62843476	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	8018657	62843476	182044	103	33566											
PATZ1	23598	broad.mit.edu	37	chr22	31740473	31740473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagtgggacagcttgtgCcggttaagatgatacacatc	12	9	0	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr22:31740473C>T	ENST00000266269.5	-	1	1745	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	PATZ1_ENST00000351933.4_Silent_p.R372R|PATZ1_ENST00000215919.3_Silent_p.R372R|PATZ1_ENST00000405309.3_Silent_p.R372R	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	372					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R372R(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ACAGCTTGTGCCGGTTAAGAT	0.582													False	0	False	22:31740473	0	T	31740473	C	T	31740473	2	4	136	1	0	0	0	0	0	0	0	1	11544	726	26	2		2	PATZ1	22	31740473	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		31740473	19564093	104	33567											
CYTH4	27128	broad.mit.edu	37	chr22	37707094	37707094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaactgcctctactacttcGagttcaccactgtgagcagg	8	13	2	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr22:37707094G>A	ENST00000248901.6	+	10	1061	c.874G>A	c.(874-876)Gag>Aag	p.E292K		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	292	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CTACTACTTCGAGTTCACCAC	0.612													False	0	False	22:37707094	0	A	37707094	G	A	37707094	3	1	136	1	0	0	0	0	1	0	0	0	4231	1059	37	1	912	1	CYTH4	22	37707094	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	5966621	37707094	13597472	105	33568											
IL3RA	3563	broad.mit.edu	37	chrX	1497572	1497572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcgaccaggaggagggcGcaaacacacgtgcctggcgg	17	11	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:1497572G>A	ENST00000331035.4	+	10	1244	c.895G>A	c.(895-897)Gca>Aca	p.A299T	IL3RA_ENST00000381469.2_Missense_Mutation_p.A221T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	299						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGAGGAGGGCGCAAACACACG	0.672													False	0	False	X:1497572	0	A	1497572	G	A	1497572	3	1	136	1	0	0	0	0	1	0	0	0	7745	1087	38	1	929	1	IL3RA	23	1497572	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		1497572	153772988	106	33569											
WDR44	54521	broad.mit.edu	37	chrX	117527019	117527019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatctactaaagattttgCcgctgtggaagaagtggccc	10	9	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:117527019C>T	ENST00000254029.3	+	4	1006	c.611C>T	c.(610-612)gCc>gTc	p.A204V	WDR44_ENST00000371825.3_Missense_Mutation_p.A204V|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Missense_Mutation_p.A179V	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	204						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		p.A204G(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAAGATTTTGCCGCTGTGGAA	0.488													False	0	False	X:117527019	0	T	117527019	C	T	117527019	3	4	136	1	0	0	0	0	1	0	0	0	17380	739	26	2	625	2	WDR44	23	117527019	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	116029447	117527019	37743541	107	33570											
MAGEC3	139081	broad.mit.edu	37	chrX	140985098	140985098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgactgatatggacccCgacaaccactcctatttctt	6	15	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:140985098C>T	ENST00000298296.1	+	7	1554	c.1554C>T	c.(1552-1554)ccC>ccT	p.P518P	MAGEC3_ENST00000544766.1_Silent_p.P220P|MAGEC3_ENST00000409007.1_Silent_p.P220P|MAGEC3_ENST00000443323.2_Silent_p.P140P|MAGEC3_ENST00000536088.1_Silent_p.P220P	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	518	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATATGGACCCCGACAACCACT	0.448													False	0	True	X:140985098	0	T	140985098	C	T	140985098	2	4	136	1	0	0	0	0	0	0	0	1	9249	639	23	1		1	MAGEC3	23	140985098	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	23458079	140985098	14285462	108	33571											
PRRG3	79057	broad.mit.edu	37	chrX	150869406	150869406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctacgaggaggtgactgcGccccaagagagcagcagtga	14	11	0	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:150869406G>A	ENST00000370353.3	+	4	987	c.597G>A	c.(595-597)gcG>gcA	p.A199A	PRRG3_ENST00000538575.1_Silent_p.A199A			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	199						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGACTGCGCCCCAAGAGA	0.622													False	0	True	X:150869406	0	A	150869406	G	A	150869406	2	1	136	1	0	0	0	0	0	0	0	1	12683	1074	38	1		1	PRRG3	23	150869406	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	9884308	150869406	4401154	109	33572											
SRPK3	26576	broad.mit.edu	37	chrX	153050878	153050892	+	In_Frame_Del	DEL	CACAGTTCAGCGCCT	CACAGTTCAGCGCCT	-													gtggcccctagagcaggccaCacagttcagcgcctttctgc							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08	CACAGTTCAGCGCCT	CACAGTTCAGCGCCT	-	-	CACAGTTCAGCGCCT	CACAGTTCAGCGCCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:153050878_153050892delCACAGTTCAGCGCCT	ENST00000489426.1	+	21	4174_4188	c.1808_1822delCACAGTTCAGCGCCT	c.(1807-1824)acacagttcagcgccttt>att	p.603_608TQFSAF>I	SRPK3_ENST00000370100.1_In_Frame_Del_p.461_466TQFSAF>I|SRPK3_ENST00000370108.3_In_Frame_Del_p.503_508TQFSAF>I|SRPK3_ENST00000370101.3_In_Frame_Del_p.536_541TQFSAF>I|SRPK3_ENST00000370104.1_In_Frame_Del_p.535_540TQFSAF>I|SRPK3_ENST00000393786.3_In_Frame_Del_p.502_507TQFSAF>I			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	536					cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGCAGGCCACACAGTTCAGCGCCTTTCTGCTGCC	0.628													False	1	False	X:153050878	0	-	153050892	CACAGTTCAGCGCCT	-	153050878	7	5	136	1	0	1	0	1	0	0	0	0	15243	478	17	0	1665	0	SRPK3	23	153050878	In_Frame_Del	DEL	CACAGTTCAGCGCCT	TCGA-US-A77G-01A-11D-A32N-08	2181472	153050878	2219682	110	33573											
SLC2A7	155184	broad.mit.edu	37	chr1	9067394	9067394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatggaatgtcccgcgatGtaggcaaagacacagatgat	11	9	0	3			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:9067394G>A	ENST00000400906.1	-	10	1166	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	389						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GTCCCGCGATGTAGGCAAAGA	0.642													False	0	False	1:9067394	0	A	9067394	G	A	9067394	2	1	137	1	0	0	0	0	0	0	0	1	14630	1372	48	2		2	SLC2A7	1	9067394	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		9067394	240183227	1	33574											
SPEN	23013	broad.mit.edu	37	chr1	16259754	16259754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacaacccgatcacgccGcaagcgaaacacaaacaaga	7	13	1	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:16259754G>A	ENST00000375759.3	+	11	7223	c.7019G>A	c.(7018-7020)cGc>cAc	p.R2340H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2340	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.R2340H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGATCACGCCGCAAGCGAAAC	0.512													False	0	False	1:16259754	0	A	16259754	G	A	16259754	3	1	137	1	0	0	0	0	1	0	0	0	15120	1087	38	1	7061	1	SPEN	1	16259754	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	7192360	16259754	232990867	2	33575											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	137	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-XD-AAUG-01A-61D-A40W-08	136411761	152671515	96579106	3	33576											
SPTA1	6708	broad.mit.edu	37	chr1	158636124	158636124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgacgagcagccacagcCgactccaggaggccgtgttt	12	14	0	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:158636124C>T	ENST00000368147.4	-	16	2382	c.2202G>A	c.(2200-2202)tcG>tcA	p.S734S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCCACAGCCGACTCCAGGA	0.502													False	0	False	1:158636124	0	T	158636124	C	T	158636124	2	4	137	1	0	0	0	0	0	0	0	1	15198	639	23	1		1	SPTA1	1	158636124	Silent	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	5964609	158636124	90614497	4	33577											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	137	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-XD-AAUG-01A-61D-A40W-08		97847365	145352008	5	33578											
TBC1D8	11138	broad.mit.edu	37	chr2	101666884	101666884	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtgatctggctcggcTcctgcagatcggggtcgagg	16	10	2	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:101666884T>A	ENST00000409318.1	-	5	981	c.851A>T	c.(850-852)gAg>gTg	p.E284V	TBC1D8_ENST00000376840.4_Missense_Mutation_p.E269V	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	269					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CTGGCTCGGCTCCTGCAGATC	0.562													False	0	True	2:101666884	0	A	101666884	T	A	101666884	3	1	137	1	0	0	0	0	1	0	0	0	15707	1551	54	5	2680	5	TBC1D8	2	101666884	Missense_Mutation	SNP	T	TCGA-XD-AAUG-01A-61D-A40W-08	3819519	101666884	141532489	6	33579											
RNF149	284996	broad.mit.edu	37	chr2	101898332	101898332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgctcacctagcaatgccGtattttctcctgcatctcct	5	16	3	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:101898332G>A	ENST00000295317.3	-	6	1255	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	383						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TAGCAATGCCGTATTTTCTCC	0.488													False	0	False	2:101898332	0	A	101898332	G	A	101898332	3	1	137	1	0	0	0	0	1	0	0	0	13529	1145	40	1	62	1	RNF149	2	101898332	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	231448	101898332	141301041	7	33580											
POTEF	728378	broad.mit.edu	37	chr2	130877733	130877733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatcgtagtctccccaaGcgcccaccttgctcttgctg	8	16	3	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:130877733G>A	ENST00000357462.5	-	1	449	c.356C>T	c.(355-357)gCt>gTt	p.A119V	POTEF_ENST00000361163.4_Missense_Mutation_p.A119V|POTEF_ENST00000360967.5_Missense_Mutation_p.A119V|POTEF_ENST00000409914.2_Missense_Mutation_p.A119V			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	119						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTCTCCCCAAGCGCCCACCTT	0.587													False	0	False	2:130877733	0	A	130877733	G	A	130877733	3	1	137	1	0	0	0	0	1	0	0	0	12334	971	34	2	2931	2	POTEF	2	130877733	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	28979401	130877733	112321640	8	33581											
OSBPL6	114880	broad.mit.edu	37	chr2	179197717	179197717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcacatatttccttcaacGtccacagctgaatcctcacc	3	15	3	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:179197717G>A	ENST00000190611.4	+	8	982	c.606G>A	c.(604-606)acG>acA	p.T202T	OSBPL6_ENST00000409631.1_Silent_p.T202T|OSBPL6_ENST00000392505.2_Silent_p.T202T|OSBPL6_ENST00000315022.2_Silent_p.T181T|OSBPL6_ENST00000359685.3_Silent_p.T202T|OSBPL6_ENST00000357080.4_Silent_p.T202T|OSBPL6_ENST00000409045.3_Silent_p.T202T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	202					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCCTTCAACGTCCACAGCTG	0.393													False	0	False	2:179197717	0	A	179197717	G	A	179197717	2	1	137	1	0	0	0	0	0	0	0	1	11349	1132	40	1		1	OSBPL6	2	179197717	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	48319984	179197717	64001656	9	33582											
TTN	7273	broad.mit.edu	37	chr2	179428962	179428962	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaggtataggtttgccacgGatgtcggcttcaagaacaaa	11	8	2	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:179428962G>A	ENST00000589042.1	-	326	82121	c.81897C>T	c.(81895-81897)atC>atT	p.I27299I	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.I18426I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.I25658I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.I18359I|TTN_ENST00000342992.6_Silent_p.I24731I|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.I18234I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25658							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTGCCACGGATGTCGGCTT	0.378													False	0	False	2:179428962	0	A	179428962	G	A	179428962	2	1	137	1	0	0	0	0	0	0	0	1	16819	1164	41	2		2	TTN	2	179428962	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	231245	179428962	63770411	10	33583											
TRNT1	51095	broad.mit.edu	37	chr3	3189309	3189309	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaccttggcttatttatAgttaaaaataggaaagattt	6	3	0	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:3189309A>C	ENST00000251607.6	+	7	1080	c.978A>C	c.(976-978)atA>atC	p.I326I	TRNT1_ENST00000280591.6_Silent_p.I306I	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	326					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		GCTTATTTATAGTTAAAAATA	0.328													False	0	True	3:3189309	0	C	3189309	A	C	3189309	2	2	137	1	0	0	0	0	0	0	0	1	16656	410	15	4		4	TRNT1	3	3189309	Silent	SNP	A	TCGA-XD-AAUG-01A-61D-A40W-08		3189309	194833121	11	33584											
PRKCD	5580	broad.mit.edu	37	chr3	53223943	53223943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaccggaaacatcaaaatcCaccccttcttcaagaccata	4	14	3	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:53223943C>A	ENST00000394729.2	+	17	2126	c.1798C>A	c.(1798-1800)Cac>Aac	p.H600N	PRKCD_ENST00000330452.3_Missense_Mutation_p.H600N	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	600	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CATCAAAATCCACCCCTTCTT	0.547													False	0	False	3:53223943	0	A	53223943	C	A	53223943	3	1	137	1	0	0	0	0	1	0	0	0	12585	594	21	3	1860	3	PRKCD	3	53223943	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	50034634	53223943	144798487	12	33585											
MCCC1	56922	broad.mit.edu	37	chr3	182733294	182733294	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggagtgtgtctgttggcctGagcaccttctctgtagaaca	12	9	2	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:182733294G>A	ENST00000492597.1	-	18	2485	c.1783C>T	c.(1783-1785)Cag>Tag	p.Q595*	MCCC1_ENST00000265594.4_Nonsense_Mutation_p.Q704*			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	704					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTGTTGGCCTGAGCACCTTCT	0.443													False	0	False	3:182733294	0	A	182733294	G	A	182733294	4	1	137	1	0	0	0	0	0	1	0	0	9441	1299	45	2	71	2	MCCC1	3	182733294	Nonsense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	129509351	182733294	15289136	13	33586											
SCFD2	152579	broad.mit.edu	37	chr4	53751931	53751931	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctgggttcctggcttcaAcgatgccacaagatctttga	9	11	2	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:53751931A>G	ENST00000401642.3	-	8	2078	c.1945T>C	c.(1945-1947)Ttg>Ctg	p.L649L	SCFD2_ENST00000388940.4_Silent_p.L604L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	649					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCTGGCTTCAACGATGCCACA	0.547													False	0	False	4:53751931	0	G	53751931	A	G	53751931	2	3	137	1	0	0	0	0	0	0	0	1	13970	40	2	4		4	SCFD2	4	53751931	Silent	SNP	A	TCGA-XD-AAUG-01A-61D-A40W-08		53751931	137402345	14	33587											
FSTL5	56884	broad.mit.edu	37	chr4	162459317	162459317	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgggtggttctatacataCgggtctttctagcagagtct	12	7	4	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:162459317C>T	ENST00000306100.5	-	10	1749		c.e10+1		FSTL5_ENST00000427802.2_Splice_Site|FSTL5_ENST00000379164.4_Splice_Site|FSTL5_ENST00000536695.1_Splice_Site	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5							extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTATACATACGGGTCTTTCT	0.393													False	0	True	4:162459317	0	T	162459317	C	T	162459317	5	4	137	1	0	0	0	0	0	0	1	0	6122	550	19	1	1258	1	FSTL5	4	162459317	Splice_Site	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	108707386	162459317	28694959	15	33588											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367721	184367721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgaggtgcccttgttgggctCctcaggaagctcagaggtag	15	10	2	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:184367721C>T	ENST00000504169.1	+	3	1091	c.884C>T	c.(883-885)tCc>tTc	p.S295F	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	295	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTGTTGGGCTCCTCAGGAAGC	0.468													False	0	False	4:184367721	0	T	184367721	C	T	184367721	3	4	137	1	0	0	0	0	1	0	0	0	3185	855	30	2	894	2	CDKN2AIP	4	184367721	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	21908404	184367721	6786555	16	33589											
C4A	720	broad.mit.edu	37	chr6	31964233	31964233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcaaaggcaaactcaTttttgggggagaaagcaagt	10	8	2	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:31964233T>C	ENST00000428956.2	+	28	3616	c.3532T>C	c.(3532-3534)Ttt>Ctt	p.F1178L	C4A_ENST00000498271.1_Missense_Mutation_p.F1178L	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		GGCAAACTCATTTTTGGGGGA	0.607													False	0	True	6:31964233	0	C	31964233	T	C	31964233	3	2	137	1	0	0	0	0	1	0	0	0	2264	1493	52	4		4	C4A	6	31964233	Missense_Mutation	SNP	T	TCGA-XD-AAUG-01A-61D-A40W-08		31964233	139150834	17	33590											
DST	667	broad.mit.edu	37	chr6	56497706	56497706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcttacatacattaacctCcttttccagttgtgttatat	4	10	0	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:56497706C>T	ENST00000370754.5	-	27	3651	c.3652G>A	c.(3652-3654)Gag>Aag	p.E1218K	DST_ENST00000370788.2_Missense_Mutation_p.E1040K|DST_ENST00000361203.3_Missense_Mutation_p.E1040K|DST_ENST00000244364.6_Missense_Mutation_p.E714K|DST_ENST00000446842.2_Missense_Mutation_p.E714K|DST_ENST00000312431.6_Missense_Mutation_p.E1040K|DST_ENST00000370765.6_Missense_Mutation_p.E714K|DST_ENST00000421834.2_Missense_Mutation_p.E1040K|DST_ENST00000518935.1_Missense_Mutation_p.E714K|DST_ENST00000370769.4_Missense_Mutation_p.E1040K			Q03001	DYST_HUMAN	dystonin	1040					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATTAACCTCCTTTTCCAGT	0.378													False	0	False	6:56497706	0	T	56497706	C	T	56497706	3	4	137	1	0	0	0	0	1	0	0	0	4813	864	30	2	18299	2	DST	6	56497706	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	24533473	56497706	114617361	18	33591											
MAP7	9053	broad.mit.edu	37	chr6	136681852	136681852	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccttctttctctccaggcGctcttgctcttctctctgga	6	15	6	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:136681852G>T	ENST00000354570.3	-	13	2196	c.1786C>A	c.(1786-1788)Cgc>Agc	p.R596S	MAP7_ENST00000454590.1_Missense_Mutation_p.R618S|MAP7_ENST00000544465.1_Missense_Mutation_p.R581S|MAP7_ENST00000438100.2_Missense_Mutation_p.R581S|MAP7_ENST00000432797.2_Missense_Mutation_p.R450S	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	596					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCTCCAGGCGCTCTTGCTCT	0.542													False	0	False	6:136681852	0	T	136681852	G	T	136681852	3	4	137	1	0	0	0	0	1	0	0	0	9333	1087	38	3	487	3	MAP7	6	136681852	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	80184146	136681852	34433215	19	33592											
AKAP12	9590	broad.mit.edu	37	chr6	151669953	151669953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgatgggcaggaggagacaCccgaaataatcgaacagatt	12	7	0	3			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:151669953C>A	ENST00000402676.2	+	4	667	c.427C>A	c.(427-429)Ccc>Acc	p.P143T	AKAP12_ENST00000354675.6_Missense_Mutation_p.P45T|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000253332.1_Missense_Mutation_p.P143T|AKAP12_ENST00000359755.5_Missense_Mutation_p.P38T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	143				TPEI -> NRN (in Ref. 1; AAC51366).	G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGAGGAGACACCCGAAATAAT	0.438													False	0	True	6:151669953	0	A	151669953	C	A	151669953	3	1	137	1	0	0	0	0	1	0	0	0	448	507	18	3	466	3	AKAP12	6	151669953	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	14988101	151669953	19445114	20	33593											
PTCD1	26024	broad.mit.edu	37	chr7	99057763	99057763	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcccgcatcaagatccAgcttggcagctcccccagtt	9	15	1	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr7:99057763A>T	ENST00000555673.1	-	2	89	c.67T>A	c.(67-69)Tgg>Agg	p.W23R	ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000449683.1_Missense_Mutation_p.W33R|ATP5J2_ENST00000292475.3_Missense_Mutation_p.W29R|ATP5J2_ENST00000359832.4_Missense_Mutation_p.W29R|ATP5J2_ENST00000394186.3_Missense_Mutation_p.W23R|ATP5J2_ENST00000544611.1_Missense_Mutation_p.W23R|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000488775.1_Missense_Mutation_p.W23R|ATP5J2-PTCD1_ENST00000437572.1_Intron	NM_001198879.1	NP_001185808.1			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ATCAAGATCCAGCTTGGCAGC	0.473													False	0	False	7:99057763	0	T	99057763	A	T	99057763	3	4	137	1	0	0	0	0	1	0	0	0	12803	188	7	5		5	PTCD1	7	99057763	Missense_Mutation	SNP	A	TCGA-XD-AAUG-01A-61D-A40W-08		99057763	60080900	21	33594											
ENTPD4	9583	broad.mit.edu	37	chr8	23290634	23290634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacgccccgccagtgggtGtgactggctcggaaggcctc	15	13	0	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr8:23290634G>A	ENST00000358689.4	-	13	1891	c.1656C>T	c.(1654-1656)caC>caT	p.H552H	ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Silent_p.H544H|ENTPD4_ENST00000521321.1_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	552					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GCCAGTGGGTGTGACTGGCTC	0.577													False	0	False	8:23290634	0	A	23290634	G	A	23290634	2	1	137	1	0	0	0	0	0	0	0	1	5173	1368	48	2		2	ENTPD4	8	23290634	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		23290634	123073388	22	33595											
PABPC1	26986	broad.mit.edu	37	chr8	101719035	101719036	+	Splice_Site	DEL	TA	TA	-													gtctgtgttgatgtgttagcTaaaaaataagaacattttgt							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr8:101719035_101719036delTA	ENST00000318607.5	-	11	2576		c.e11-2		PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000522387.1_Splice_Site	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATGTGTTAGCTAAAAAATAAGA	0.426													False	1	True	8:101719035	0	-	101719036	TA	-	101719035	8	5	137	1	0	1	0	1	0	0	1	0	11431	1536	53	0	480	0	PABPC1	8	101719035	Splice_Site	DEL	TA	TCGA-XD-AAUG-01A-61D-A40W-08	78428401	101719035	44644987	23	33596											
MPDZ	8777	broad.mit.edu	37	chr9	13168481	13168481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtccccaatggcaatccgGccatctcgactaatggcacc	8	16	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:13168481G>A	ENST00000319217.7	-	22	3385	c.3138C>T	c.(3136-3138)ggC>ggT	p.G1046G	MPDZ_ENST00000536827.1_Silent_p.G1046G|MPDZ_ENST00000546205.1_Silent_p.G1046G|MPDZ_ENST00000381022.2_Silent_p.G1046G|MPDZ_ENST00000541718.1_Silent_p.G1046G|MPDZ_ENST00000447879.1_Silent_p.G1046G|MPDZ_ENST00000381015.4_Silent_p.G1046G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1046	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGGCAATCCGGCCATCTCGAC	0.448													False	0	False	9:13168481	0	A	13168481	G	A	13168481	2	1	137	1	0	0	0	0	0	0	0	1	9789	1190	42	2		2	MPDZ	9	13168481	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		13168481	128044950	24	33597											
BNC2	54796	broad.mit.edu	37	chr9	16435989	16435989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccccttccatggattcctCgcccagtttgggctccgaag	9	15	0	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:16435989C>T	ENST00000380672.4	-	6	2260	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K	BNC2_ENST00000380666.2_Missense_Mutation_p.E735K|BNC2_ENST00000545497.1_Missense_Mutation_p.E640K|BNC2_ENST00000380667.2_Missense_Mutation_p.E668K	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATGGATTCCTCGCCCAGTTTG	0.512													False	0	False	9:16435989	0	T	16435989	C	T	16435989	3	4	137	1	0	0	0	0	1	0	0	0	1480	893	31	1	1104	1	BNC2	9	16435989	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	3267508	16435989	124777442	25	33598											
NOL8	55035	broad.mit.edu	37	chr9	95077918	95077940	+	Frame_Shift_Del	DEL	TCAGATTCATTTATTGAGGGTTG	TCAGATTCATTTATTGAGGGTTG	-													caacttcaaaaggatcacttTcagattcatttattgagggt							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	TCAGATTCATTTATTGAGGGTTG	TCAGATTCATTTATTGAGGGTTG	-	-	TCAGATTCATTTATTGAGGGTTG	TCAGATTCATTTATTGAGGGTTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:95077918_95077940delTCAGATTCATTTATTGAGGGTTG	ENST00000535387.1	-	6	966_988	c.967_989delCAACCCTCAATAAATGAATCTGA	c.(967-990)caaccctcaataaatgaatctgaafs	p.QPSINESE323fs	NOL8_ENST00000358855.4_Frame_Shift_Del_p.QPSINESE255fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.QPSINESE255fs|NOL8_ENST00000545558.1_Frame_Shift_Del_p.QPSINESE323fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.QPSINESE323fs			Q76FK4	NOL8_HUMAN	nucleolar protein 8	323					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	p.S325L(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						AGGATCACTTTCAGATTCATTTATTGAGGGTTGTGTAGTTCTC	0.359													False	1	True	9:95077918	0	-	95077940	TCAGATTCATTTATTGAGGGTTG	-	95077918	7	5	137	1	0	1	0	1	0	0	0	0	10595	1783	62	0	2558	0	NOL8	9	95077918	Frame_Shift_Del	DEL	TCAGATTCATTTATTGAGGGTTG	TCGA-XD-AAUG-01A-61D-A40W-08	78641929	95077918	46135513	26	33599											
CORO2A	7464	broad.mit.edu	37	chr9	100895437	100895437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatcacatcttggtgacaGctaatcgtactcatggggct	11	9	3	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:100895437G>A	ENST00000343933.5	-	5	788	c.531C>T	c.(529-531)agC>agT	p.S177S	CORO2A_ENST00000375077.4_Silent_p.S177S	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	177					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTTGGTGACAGCTAATCGTAC	0.547													False	0	False	9:100895437	0	A	100895437	G	A	100895437	2	1	137	1	0	0	0	0	0	0	0	1	3779	962	34	2		2	CORO2A	9	100895437	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	5817519	100895437	40317994	27	33600											
ADAMTS13	11093	broad.mit.edu	37	chr9	136298550	136298550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgacccccatagcagCagtgcatgggcgctggtcta	14	12	1	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:136298550C>T	ENST00000371929.3	+	10	1589	c.1145C>T	c.(1144-1146)gCa>gTa	p.A382V	ADAMTS13_ENST00000536611.1_Missense_Mutation_p.A54V|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A351V|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A382V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	382	Disintegrin.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCCATAGCAGCAGTGCATGGG	0.652													False	0	False	9:136298550	0	T	136298550	C	T	136298550	3	4	137	1	0	0	0	0	1	0	0	0	258	710	25	2	1183	2	ADAMTS13	9	136298550	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	35403113	136298550	4914881	28	33601											
TUBAL3	79861	broad.mit.edu	37	chr10	5443000	5443000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatagagttcccagcaggcGtccccaatctggatgccagc	10	14	1	1	rs148158899		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr10:5443000G>A	ENST00000380419.3	-	2	91	c.54C>T	c.(52-54)gaC>gaT	p.D18D	TUBAL3_ENST00000479328.1_Intron	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	18					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CCCAGCAGGCGTCCCCAATCT	0.483													False	0	False	10:5443000	0	A	5443000	G	A	5443000	2	1	137	1	0	0	0	0	0	0	0	1	16835	1136	40	1		1	TUBAL3	10	5443000	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		5443000	130091747	29	33602											
FZD8	8325	broad.mit.edu	37	chr10	35930018	35930018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcgcagccggccttggCgcgctcgcacaccgagcggc	16	18	0	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr10:35930018C>T	ENST00000374694.1	-	1	344	c.340G>A	c.(340-342)Gcc>Acc	p.A114T		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	114	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CCGGCCTTGGCGCGCTCGCAC	0.682													False	0	True	10:35930018	0	T	35930018	C	T	35930018	3	4	137	1	0	0	0	0	1	0	0	0	6178	768	27	1	1748	1	FZD8	10	35930018	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	30487018	35930018	99604729	30	33603											
OR5P3	120066	broad.mit.edu	37	chr11	7847156	7847156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagcagatggccacatagcGatcataggccatggcagcca	12	11	1	2	rs117218570	by1000genomes	TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:7847156G>A	ENST00000328375.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCACATAGCGATCATAGGCC	0.557													False	0	False	11:7847156	0	A	7847156	G	A	7847156	3	1	137	1	0	0	0	0	1	0	0	0	11247	1058	37	1	574	1	OR5P3	11	7847156	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		7847156	127159360	31	33604											
GRIA4	0	broad.mit.edu	37	chr11	105795458	105795458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcctctggttttccctgGgtgcttttatgcagcaagga	11	10	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:105795458G>T	ENST00000393127.2	+	12	2256	c.1810G>T	c.(1810-1812)Ggt>Tgt	p.G604C	GRIA4_ENST00000530497.1_Missense_Mutation_p.G604C|GRIA4_ENST00000525187.1_Missense_Mutation_p.G604C|GRIA4_ENST00000282499.5_Missense_Mutation_p.G604C	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	604					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GTTTTCCCTGGGTGCTTTTAT	0.453													False	0	True	11:105795458	0	T	105795458	G	T	105795458	3	4	137	1	0	0	0	0	1	0	0	0	6817	1232	43	3	1889	3	GRIA4	11	105795458	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	97948302	105795458	29211058	32	33605											
RPUSD4	84881	broad.mit.edu	37	chr11	126075456	126075456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgcattccggctgcgccGcactttcaccattttcccat	7	16	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:126075456G>A	ENST00000298317.4	-	5	756	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	RPUSD4_ENST00000533628.1_Intron	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	235					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CGGCTGCGCCGCACTTTCACC	0.552													False	0	False	11:126075456	0	A	126075456	G	A	126075456	3	1	137	1	0	0	0	0	1	0	0	0	13748	1086	38	1	442	1	RPUSD4	11	126075456	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	20279998	126075456	8931060	33	33606											
PLEKHA5	54477	broad.mit.edu	37	chr12	19511180	19511180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaagaccaagaagtgcaGtggaacagctctgtttggct	13	7	1	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:19511180G>A	ENST00000538714.1	+	23	2837	c.2833G>A	c.(2833-2835)Gtg>Atg	p.V945M	PLEKHA5_ENST00000429027.2_Missense_Mutation_p.V1053M|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.V645M|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.V869M|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.V876M|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.V945M|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.V831M|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.V950M|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.V887M	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	887							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGAAGTGCAGTGGAACAGCT	0.373													False	0	False	12:19511180	0	A	19511180	G	A	19511180	3	1	137	1	0	0	0	0	1	0	0	0	12128	1029	36	2	3059	2	PLEKHA5	12	19511180	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		19511180	114340715	34	33607											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	137	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	5887104	25398284	108453611	35	33608											
SDR9C7	121214	broad.mit.edu	37	chr12	57327752	57327752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattcgccccaccttgttcGcccactttgtccctcaccca	4	19	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:57327752G>A	ENST00000293502.1	-	1	437	c.294C>T	c.(292-294)ggC>ggT	p.G98G		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	98						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CACCTTGTTCGCCCACTTTGT	0.542													False	0	True	12:57327752	0	A	57327752	G	A	57327752	2	1	137	1	0	0	0	0	0	0	0	1	14055	1074	38	1		1	SDR9C7	12	57327752	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	31929468	57327752	76524143	36	33609											
BTG1	694	broad.mit.edu	37	chr12	92537928	92537929	+	Frame_Shift_Ins	INS	-	-	CTGATTCGGCTGC													agagaagttcctccttacagINSctgattcggctgtctaccat							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:92537928_92537929insCTGATTCGGCTGC	ENST00000256015.3	-	2	804_805	c.443_444insGCAGCCGAATCAG	c.(442-444)agcfs	p.S148fs		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	148					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CCTCCTTACAGCTGATTCGGCT	0.465			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:92537928	0	CTGATTCGGCTGC	92537929	-	CTGATTCGGCTGC	92537928	7	5	137	1	0	1	1	0	0	0	0	0	1560	962	34	0	75	0	BTG1	12	92537928	Frame_Shift_Ins	INS	-	TCGA-XD-AAUG-01A-61D-A40W-08	35210176	92537928	41313967	37	33610											
DGKH	160851	broad.mit.edu	37	chr13	42761256	42761256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaaaaccttggaaaatgCcgttgtagctgatgccgtgg	12	8	0	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr13:42761256C>T	ENST00000261491.5	+	14	1631	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.A537V|DGKH_ENST00000337343.4_Missense_Mutation_p.A537V|DGKH_ENST00000379274.2_Missense_Mutation_p.A401V|DGKH_ENST00000538674.1_Missense_Mutation_p.A292V|DGKH_ENST00000536612.1_Missense_Mutation_p.A401V	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTGGAAAATGCCGTTGTAGCT	0.418													False	0	False	13:42761256	0	T	42761256	C	T	42761256	3	4	137	1	0	0	0	0	1	0	0	0	4500	739	26	2	1664	2	DGKH	13	42761256	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08		42761256	72408622	38	33611											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25255452	25255452	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gttcggcactgttctggtgtCcggaggaagccgcactctcg	14	12	2	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr16:25255452C>G	ENST00000328086.7	-	6	2438	c.1635G>C	c.(1633-1635)cgG>cgC	p.R545R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	545					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GTTCTGGTGTCCGGAGGAAGC	0.517													False	0	False	16:25255452	0	G	25255452	C	G	25255452	2	3	137	1	0	0	0	0	0	0	0	1	17770	842	30	5		5	ZKSCAN2	16	25255452	Silent	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08		25255452	65099301	39	33612											
BRD7	29117	broad.mit.edu	37	chr16	50368806	50368807	+	Splice_Site	INS	-	-	CTGG													ttcaggctctgaattctttcINSctaaacatattcgaaaatat							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr16:50368806_50368807insCTGG	ENST00000394688.3	-	7	862	c.703_703insCCAG	c.(703-705)gaa>CCAGgaa	p.E235fs	BRD7_ENST00000394689.2_Splice_Site_p.E235fs			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	235					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.?(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TGAATTCTTTCCTAAACATATT	0.371													False	0	False	16:50368806	0	CTGG	50368807	-	CTGG	50368806	8	5	137	1	0	1	1	0	0	0	1	0	1512	869	30	0	1299	0	BRD7	16	50368806	Splice_Site	INS	-	TCGA-XD-AAUG-01A-61D-A40W-08	25113354	50368806	39985947	40	33613											
PRSS54	221191	broad.mit.edu	37	chr16	58324907	58324907	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgaggacccagaactcgctCaggatgcagccgaaagccag	12	13	1	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr16:58324907C>A	ENST00000219301.4	-	4	613	c.219G>T	c.(217-219)ctG>ctT	p.L73L	PRSS54_ENST00000567164.1_Silent_p.L73L|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	73	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAACTCGCTCAGGATGCAGC	0.647													False	0	False	16:58324907	0	A	58324907	C	A	58324907	2	1	137	1	0	0	0	0	0	0	0	1	12709	813	29	3		3	PRSS54	16	58324907	Silent	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	7956101	58324907	32029846	41	33614											
TP53	7157	broad.mit.edu	37	chr17	7578469	7578469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatggcgcggacgcgggtgCcgggcgggggtgtggaatca	21	10	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:7578469C>A	ENST00000420246.2	-	5	593	c.461G>T	c.(460-462)gGc>gTc	p.G154V	TP53_ENST00000269305.4_Missense_Mutation_p.G154V|TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	154	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACGCGGGTGCCGGGCGGGGG	0.607		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)			False	0	True	17:7578469	0	A	7578469	C	A	7578469	3	1	137	1	0	0	0	0	1	0	0	0	16464	739	26	3	837	3	TP53	17	7578469	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08		7578469	73616741	42	33615											
COL1A1	1277	broad.mit.edu	37	chr17	48273888	48273888	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagggctgccaggctcaCcctgtagatcagagaataat	10	12	2	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:48273888C>T	ENST00000225964.5	-	13	978	c.860G>A	c.(859-861)gGt>gAt	p.G287D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	287	Triple-helical region.		G -> S (in OI1).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GCCAGGCTCACCCTGTAGATC	0.547			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						False	0	True	17:48273888	0	T	48273888	C	T	48273888	5	4	137	1	0	0	0	0	0	0	1	0	3700	521	18	2	3690	2	COL1A1	17	48273888	Splice_Site	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	40695419	48273888	32921322	43	33616											
SCN4A	6329	broad.mit.edu	37	chr17	62022892	62022892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtagtagaacttgccgGcaaacaggttgacacccatg	11	10	0	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:62022892G>A	ENST00000435607.1	-	19	3624	c.3548C>T	c.(3547-3549)gCc>gTc	p.A1183V	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1183V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1183					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A1183V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GAACTTGCCGGCAAACAGGTT	0.542													False	0	False	17:62022892	0	A	62022892	G	A	62022892	3	1	137	1	0	0	0	0	1	0	0	0	14001	1203	42	2	1986	2	SCN4A	17	62022892	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	13749004	62022892	19172318	44	33617											
GNA13	10672	broad.mit.edu	37	chr17	63052667	63052667	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcgtcagcaggcagccgggGaagcacacggacagcacgga	15	13	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:63052667G>A	ENST00000439174.2	-	1	290	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	15					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GGCAGCCGGGGAAGCACACGG	0.682													False	0	True	17:63052667	0	A	63052667	G	A	63052667	2	1	137	1	0	0	0	0	0	0	0	1	6546	1165	41	2		2	GNA13	17	63052667	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	1029775	63052667	18142543	45	33618											
SDK2	54549	broad.mit.edu	37	chr17	71390417	71390417	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcgcaccagcatgctgctGgaggtggtggccagtgcaga	16	11	0	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:71390417G>T	ENST00000392650.3	-	26	3639	c.3639C>A	c.(3637-3639)tcC>tcA	p.S1213S	SDK2_ENST00000388726.3_Silent_p.S1213S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1213	Fibronectin type-III 7.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCATGCTGCTGGAGGTGGTGG	0.642													False	0	False	17:71390417	0	T	71390417	G	T	71390417	2	4	137	1	0	0	0	0	0	0	0	1	14050	1335	47	3		3	SDK2	17	71390417	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	8337750	71390417	9804793	46	33619											
ME2	4200	broad.mit.edu	37	chr18	48447031	48447031	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctttgtttttcttacagGgacagctgcagtagctctag	9	8	3	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr18:48447031G>A	ENST00000321341.5	+	9	1117	c.845G>A	c.(844-846)gGg>gAg	p.G282E	ME2_ENST00000382927.3_Splice_Site_p.G282E	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	282					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TTTCTTACAGGGACAGCTGCA	0.348													False	0	True	18:48447031	0	A	48447031	G	A	48447031	5	1	137	1	0	0	0	0	0	0	1	0	9485	1246	43	2	875	2	ME2	18	48447031	Splice_Site	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		48447031	29630217	47	33620											
ME2	4200	broad.mit.edu	37	chr18	48447459	48447459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggctgctcttggaattGcaaatcttatagttatgtct	8	7	3	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr18:48447459G>A	ENST00000321341.5	+	10	1230	c.958G>A	c.(958-960)Gca>Aca	p.A320T	ME2_ENST00000382927.3_Missense_Mutation_p.A320T	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	320					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TCTTGGAATTGCAAATCTTAT	0.313													False	0	False	18:48447459	0	A	48447459	G	A	48447459	3	1	137	1	0	0	0	0	1	0	0	0	9485	1319	46	2	992	2	ME2	18	48447459	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	428	48447459	29629789	48	33621											
CC2D1A	54862	broad.mit.edu	37	chr19	14034184	14034184	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaaggacgactttgccctGgtccagcggcctggcccggg	14	14	0	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:14034184G>T	ENST00000318003.7	+	15	1921	c.1680G>T	c.(1678-1680)ctG>ctT	p.L560L	CC2D1A_ENST00000589606.1_Silent_p.L560L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	560					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACTTTGCCCTGGTCCAGCGGC	0.687													False	0	False	19:14034184	0	T	14034184	G	T	14034184	2	4	137	1	0	0	0	0	0	0	0	1	2746	1335	47	3		3	CC2D1A	19	14034184	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		14034184	45094799	49	33622											
ANO8	57719	broad.mit.edu	37	chr19	17436170	17436170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgctgctgctgctggtagCgatgctgggcctggcgctcg	17	12	0	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:17436170C>T	ENST00000159087.4	-	17	2845	c.2687G>A	c.(2686-2688)cGc>cAc	p.R896H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	896						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CTGCTGGTAGCGATGCTGGGC	0.647													False	0	False	19:17436170	0	T	17436170	C	T	17436170	3	4	137	1	0	0	0	0	1	0	0	0	703	768	27	1	1019	1	ANO8	19	17436170	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	3401986	17436170	41692813	50	33623											
ZNF222	0	broad.mit.edu	37	chr19	44536890	44536890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctacattagtaagtcaGgtcttgacttccaccataga	9	9	2	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:44536890G>A	ENST00000187879.8	+	4	1225	c.1063G>A	c.(1063-1065)Ggt>Agt	p.G355S	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.G395S	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TAGTAAGTCAGGTCTTGACTT	0.428													False	0	False	19:44536890	0	A	44536890	G	A	44536890	3	1	137	1	0	0	0	0	1	0	0	0	17859	1000	35	2	1216	2	ZNF222	19	44536890	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	27100720	44536890	14592093	51	33624											
FPR1	2357	broad.mit.edu	37	chr19	52249834	52249834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcttggccaggctcacGgtgcggtggttctgggtcca	14	12	3	0	rs151277630	byFrequency	TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:52249834G>A	ENST00000595042.1	-	3	555	c.414C>T	c.(412-414)acC>acT	p.T138T	FPR1_ENST00000304748.4_Silent_p.T138T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	138					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCAGGCTCACGGTGCGGTGGT	0.547													False	0	True	19:52249834	0	A	52249834	G	A	52249834	2	1	137	1	0	0	0	0	0	0	0	1	6080	1103	39	1		1	FPR1	19	52249834	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	7712944	52249834	6879149	52	33625											
CST1	1469	broad.mit.edu	37	chr20	23729740	23729742	+	In_Frame_Del	DEL	GAA	GAA	-													gtgcggcccacctctacgtcGaagaagtaattcaccccccc							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr20:23729740_23729742delGAA	ENST00000304749.2	-	2	323_325	c.253_255delTTC	c.(253-255)ttcdel	p.F85del	CST1_ENST00000398402.1_In_Frame_Del_p.F85del	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	85						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CCTCTACGTCGAAGAAGTAATTC	0.547													False	2	False	20:23729740	0	-	23729742	GAA	-	23729740	7	5	137	1	0	1	0	1	0	0	0	0	3995	1049	37	0	178	0	CST1	20	23729740	In_Frame_Del	DEL	GAA	TCGA-XD-AAUG-01A-61D-A40W-08		23729740	39295780	53	33626											
FOXS1	2307	broad.mit.edu	37	chr20	30432696	30432696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccggcaggaaagccaaacGctgggcatgaggaagatgag	16	8	0	3			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr20:30432696G>T	ENST00000375978.3	-	1	724	c.650C>A	c.(649-651)gCg>gAg	p.A217E		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	217					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AAAGCCAAACGCTGGGCATGA	0.617													False	0	False	20:30432696	0	T	30432696	G	T	30432696	3	4	137	1	0	0	0	0	1	0	0	0	6077	1087	38	3	346	3	FOXS1	20	30432696	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	6702956	30432696	32592824	54	33627											
ACR	49	broad.mit.edu	37	chr22	51177896	51177896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctcactgcttcgtcgGcaaaaagtacgtgtagggat	12	9	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr22:51177896G>A	ENST00000216139.5	+	2	315	c.275G>A	c.(274-276)gGc>gAc	p.G92D	ACR_ENST00000529621.1_Missense_Mutation_p.G92D	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	92	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTTCGTCGGCAAAAAGTAC	0.577													False	0	False	22:51177896	0	A	51177896	G	A	51177896	3	1	137	1	0	0	0	0	1	0	0	0	169	1203	42	2	281	2	ACR	22	51177896	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		51177896	126670	55	33628											
GPM6B	2824	broad.mit.edu	37	chrX	13801502	13801502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accattccactgatgcatcgGccacaagcggttgttttaaa	8	11	0	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:13801502G>A	ENST00000454189.2	-	3	457	c.330C>T	c.(328-330)ggC>ggT	p.G110G	GPM6B_ENST00000398361.3_Silent_p.G43G|GPM6B_ENST00000356942.5_Silent_p.G129G|GPM6B_ENST00000316715.4_Silent_p.G169G|GPM6B_ENST00000493677.1_Silent_p.G143G|GPM6B_ENST00000355135.2_Silent_p.G169G	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	129					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						TGATGCATCGGCCACAAGCGG	0.428													False	0	False	X:13801502	0	A	13801502	G	A	13801502	2	1	137	1	0	0	0	0	0	0	0	1	6662	1190	42	2		2	GPM6B	23	13801502	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		13801502	141469058	56	33629											
TMEM164	84187	broad.mit.edu	37	chrX	109352318	109352318	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccctctaggctacagatgCacatgttgaatggagctctt	9	12	2	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:109352318C>A	ENST00000372073.1	+	4	787	c.451C>A	c.(451-453)Cac>Aac	p.H151N	TMEM164_ENST00000288381.4_Intron|TMEM164_ENST00000372068.2_Missense_Mutation_p.H151N|TMEM164_ENST00000372072.3_Missense_Mutation_p.H2N			Q5U3C3	TM164_HUMAN	transmembrane protein 164	151						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GCTACAGATGCACATGTTGAA	0.458													False	0	False	X:109352318	0	A	109352318	C	A	109352318	3	1	137	1	0	0	0	0	1	0	0	0	16161	710	25	3	461	3	TMEM164	23	109352318	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	95550816	109352318	45918242	57	33630											
HTR2C	3358	broad.mit.edu	37	chrX	114141278	114141278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgtagctttcttcatacCgctgacgattatggtgatta	8	9	2	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:114141278C>T	ENST00000276198.1	+	6	1405	c.677C>T	c.(676-678)cCg>cTg	p.P226L	HTR2C_ENST00000371950.3_Silent_p.T194T|HTR2C_ENST00000371951.1_Missense_Mutation_p.P226L	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	226					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTCTTCATACCGCTGACGATT	0.507													False	0	False	X:114141278	0	T	114141278	C	T	114141278	3	4	137	1	0	0	0	0	1	0	0	0	7493	652	23	1	691	1	HTR2C	23	114141278	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	4788960	114141278	41129282	58	33631											
GLUD2	2747	broad.mit.edu	37	chrX	120181966	120181966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagcacagccagcaccGcacgccctgcaagggaggta	13	16	0	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:120181966G>A	ENST00000328078.1	+	1	505	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	143					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCCAGCACCGCACGCCCTGC	0.567													False	0	False	X:120181966	0	A	120181966	G	A	120181966	3	1	137	1	0	0	0	0	1	0	0	0	6522	1087	38	1	430	1	GLUD2	23	120181966	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	6040688	120181966	35088594	59	33632											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686333	125686333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagttggcgctccgtcaGcagctcgggcagcctctgta	12	15	2	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:125686333G>A	ENST00000371126.1	-	1	501	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	87										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGCTCCGTCAGCAGCTCGGGC	0.657													False	0	False	X:125686333	0	A	125686333	G	A	125686333	2	1	137	1	0	0	0	0	0	0	0	1	4289	962	34	2		2	DCAF12L1	23	125686333	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	5504367	125686333	29584227	60	33633											
MAP3K6	9064	broad.mit.edu	37	chr1	27688114	27688115	+	Frame_Shift_Ins	INS	-	-	GC													cttgttcatctccaggaccaINSgcacctgcaggcagttgggg					rs142955447		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:27688114_27688115insGC	ENST00000493901.1	-	12	1821_1822	c.1582_1583insGC	c.(1582-1584)ctgfs	p.L528fs	MAP3K6_ENST00000374040.3_Frame_Shift_Ins_p.L520fs|MAP3K6_ENST00000357582.2_Frame_Shift_Ins_p.L528fs	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	528					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCCAGGACCAGCACCTGCAGG	0.629													False	1	False	1:27688114	0	GC	27688115	-	GC	27688114	7	5	138	1	0	1	1	0	0	0	0	0	9321	188	7	0	2359	0	MAP3K6	1	27688114	Frame_Shift_Ins	INS	-	TCGA-XD-AAUH-01A-42D-A40W-08		27688114	221562507	1	33634											
SESN2	83667	broad.mit.edu	37	chr1	28595710	28595710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagcagagggagagccGggctcggcgaggccctcgag	19	12	0	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:28595710G>A	ENST00000253063.3	+	2	428	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	36					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGAGAGCCGGGCTCGGCGA	0.557													False	0	True	1:28595710	0	A	28595710	G	A	28595710	3	1	138	1	0	0	0	0	1	0	0	0	14206	1116	39	1	113	1	SESN2	1	28595710	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	907596	28595710	220654911	2	33635											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	138	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-XD-AAUH-01A-42D-A40W-08	124075805	152671515	96579106	3	33636											
GEN1	348654	broad.mit.edu	37	chr2	17963200	17963200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaactaagattccaaagCacttgaaatttaaaacactt	3	7	0	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:17963200C>T	ENST00000381254.2	+	14	2935	c.2721C>T	c.(2719-2721)agC>agT	p.S907S	GEN1_ENST00000317402.7_Silent_p.S907S|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	907					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATTCCAAAGCACTTGAAATT	0.348								Homologous recombination					False	0	False	2:17963200	0	T	17963200	C	T	17963200	2	4	138	1	0	0	0	0	0	0	0	1	6380	709	25	2		2	GEN1	2	17963200	Silent	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		17963200	225236173	4	33637											
OTOF	9381	broad.mit.edu	37	chr2	26683776	26683776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggccaccagcctttgaCgcgcttttgcttgaagatgg	14	10	0	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:26683776C>T	ENST00000272371.2	-	44	5782	c.5656G>A	c.(5656-5658)Gtc>Atc	p.V1886I	OTOF_ENST00000403946.3_Missense_Mutation_p.V1886I|OTOF_ENST00000338581.6_Missense_Mutation_p.V1119I|OTOF_ENST00000402415.3_Missense_Mutation_p.V1196I|OTOF_ENST00000339598.3_Missense_Mutation_p.V1119I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1886			V -> A (in dbSNP:rs45442103).		cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCTTTGACGCGCTTTTGC	0.647													False	0	False	2:26683776	0	T	26683776	C	T	26683776	3	4	138	1	0	0	0	0	1	0	0	0	11371	536	19	1	534	1	OTOF	2	26683776	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	8720576	26683776	216515597	5	33638											
PLEKHH2	130271	broad.mit.edu	37	chr2	43939401	43939401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatactatctgactgcagAttctcccaatatattggaag	6	10	2	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:43939401A>G	ENST00000282406.4	+	15	2449	c.2339A>G	c.(2338-2340)gAt>gGt	p.D780G		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	780	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGACTGCAGATTCTCCCAAT	0.418													False	0	False	2:43939401	0	G	43939401	A	G	43939401	3	3	138	1	0	0	0	0	1	0	0	0	12146	333	12	4	2393	4	PLEKHH2	2	43939401	Missense_Mutation	SNP	A	TCGA-XD-AAUH-01A-42D-A40W-08	17255625	43939401	199259972	6	33639											
CNTNAP5	129684	broad.mit.edu	37	chr2	125192175	125192175	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttcaagagcatgcaaggagAtggggtcctgttccatggag	15	7	1	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:125192175A>T	ENST00000431078.1	+	5	1008	c.644A>T	c.(643-645)gAt>gTt	p.D215V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	215	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATGCAAGGAGATGGGGTCCTG	0.507													False	0	False	2:125192175	0	T	125192175	A	T	125192175	3	4	138	1	0	0	0	0	1	0	0	0	3673	333	12	5	662	5	CNTNAP5	2	125192175	Missense_Mutation	SNP	A	TCGA-XD-AAUH-01A-42D-A40W-08	81252774	125192175	118007198	7	33640											
SRGAP3	9901	broad.mit.edu	37	chr3	9036070	9036070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggggatgagtccatccaCgccgttgtgccggccctccc	13	15	0	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:9036070C>T	ENST00000383836.3	-	19	2792	c.2365G>A	c.(2365-2367)Gtg>Atg	p.V789M	SRGAP3_ENST00000360413.3_Missense_Mutation_p.V765M	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	789					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGTCCATCCACGCCGTTGTGC	0.577			T	RAF1	pilocytic astrocytoma								False	0	True	3:9036070	0	T	9036070	C	T	9036070	3	4	138	1	0	0	0	0	1	0	0	0	15229	536	19	1	950	1	SRGAP3	3	9036070	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		9036070	188986360	8	33641											
PTPRG	5793	broad.mit.edu	37	chr3	62257096	62257096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagggtcgtcagaatgaaagGgtagtgatccagtatcacta	12	6	2	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:62257096G>T	ENST00000474889.1	+	21	3425	c.3048G>T	c.(3046-3048)agG>agT	p.R1016S	PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R987S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1016	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGAATGAAAGGGTAGTGATCC	0.478													False	0	True	3:62257096	0	T	62257096	G	T	62257096	3	4	138	1	0	0	0	0	1	0	0	0	12881	1223	43	3	3130	3	PTPRG	3	62257096	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	53221026	62257096	135765334	9	33642											
LSAMP	4045	broad.mit.edu	37	chr3	115560805	115560805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggaagactggccctccGtgctcttaatctcaaggcca	10	13	3	1	rs117984283	by1000genomes	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:115560805G>A	ENST00000490035.2	-	6	1305	c.806C>T	c.(805-807)aCg>aTg	p.T269M	LSAMP_ENST00000539563.1_Missense_Mutation_p.T266M|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein		Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTGGCCCTCCGTGCTCTTAAT	0.483													False	0	False	3:115560805	0	A	115560805	G	A	115560805	3	1	138	1	0	0	0	0	1	0	0	0	9110	1145	40	1	218	1	LSAMP	3	115560805	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	53303709	115560805	82461625	10	33643											
GATA2	2624	broad.mit.edu	37	chr3	128200008	128200008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgccatgtgtccagccaGggcagctgcactgaaggggg	17	10	0	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:128200008G>A	ENST00000341105.2	-	6	1628	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Silent_p.L419L|GATA2_ENST00000487848.1_Silent_p.L433L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	433					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TGTCCAGCCAGGGCAGCTGCA	0.617			Mis		AML(CML blast transformation)								False	0	True	3:128200008	0	A	128200008	G	A	128200008	2	1	138	1	0	0	0	0	0	0	0	1	6297	991	35	2		2	GATA2	3	128200008	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	12639203	128200008	69822422	11	33644											
CLNK	116449	broad.mit.edu	37	chr4	10502908	10502908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgagtcctgtccccaggGcaaactgctgattcctctcc	8	16	2	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:10502908G>A	ENST00000226951.6	-	18	1351	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	CLNK_ENST00000515667.1_Missense_Mutation_p.A109V	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	371	SH2.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TGTCCCCAGGGCAAACTGCTG	0.458													False	0	True	4:10502908	0	A	10502908	G	A	10502908	3	1	138	1	0	0	0	0	1	0	0	0	3570	1203	42	2	182	2	CLNK	4	10502908	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08		10502908	180651368	12	33645											
AHRR	57491	broad.mit.edu	37	chr5	433019	433019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccccatgcctgtgcctcCggggtggccctgaccttgtc	14	16	0	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:433019C>T	ENST00000316418.5	+	11	1179	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	AHRR_ENST00000506456.1_Missense_Mutation_p.R217W|AHRR_ENST00000505113.1_Missense_Mutation_p.R361W|AHRR_ENST00000512529.1_Missense_Mutation_p.R207W	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCTGTGCCTCCGGGGTGGCCC	0.667													False	0	True	5:433019	0	T	433019	C	T	433019	3	4	138	1	0	0	0	0	1	0	0	0	417	643	23	1	1177	1	AHRR	5	433019	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		433019	180482241	13	33646											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	138	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-XD-AAUH-01A-42D-A40W-08	78177425	78610444	102304816	14	33647											
ST8SIA4	7903	broad.mit.edu	37	chr5	100222206	100222206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaatgtttagtgtccggCgcctgtcaagcacatagtgt	12	8	1	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:100222206C>T	ENST00000231461.5	-	3	654	c.344G>A	c.(343-345)cGc>cAc	p.R115H	ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Missense_Mutation_p.R115H	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	115					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TAGTGTCCGGCGCCTGTCAAG	0.433													False	0	False	5:100222206	0	T	100222206	C	T	100222206	3	4	138	1	0	0	0	0	1	0	0	0	15316	768	27	1	751	1	ST8SIA4	5	100222206	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	21611762	100222206	80693054	15	33648											
SLIT3	6586	broad.mit.edu	37	chr5	168310293	168310293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcacatcggtgatgccGcggaacgccttcctcgggat	11	13	2	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:168310293G>A	ENST00000519560.1	-	5	881	c.462C>T	c.(460-462)cgC>cgT	p.R154R	SLIT3_ENST00000404867.3_Silent_p.R154R|SLIT3_ENST00000332966.8_Silent_p.R154R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	154					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGTGATGCCGCGGAACGCCT	0.502													False	0	False	5:168310293	0	A	168310293	G	A	168310293	2	1	138	1	0	0	0	0	0	0	0	1	14821	1074	38	1		1	SLIT3	5	168310293	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	68088087	168310293	12604967	16	33649											
RASGEF1C	255426	broad.mit.edu	37	chr5	179545648	179545648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcagggagcggtgggcCgccccgcgcagggctgtcct	18	15	1	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:179545648C>T	ENST00000393371.2	-	9	1340	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	RASGEF1C_ENST00000361132.4_Silent_p.A348A|RASGEF1C_ENST00000522500.1_Silent_p.A197A			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	348	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGTGGGCCGCCCCGCGCA	0.667													False	0	False	5:179545648	0	T	179545648	C	T	179545648	2	4	138	1	0	0	0	0	0	0	0	1	13150	639	23	1		1	RASGEF1C	5	179545648	Silent	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	11235355	179545648	1369612	17	33650											
HIVEP2	3097	broad.mit.edu	37	chr6	143091520	143091520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttctgctgcttggtttcCatgaagagctccaagctact	8	11	1	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:143091520C>A	ENST00000367603.2	-	5	5098	c.4356G>T	c.(4354-4356)atG>atT	p.M1452I	HIVEP2_ENST00000367604.1_Missense_Mutation_p.M1452I|HIVEP2_ENST00000012134.2_Missense_Mutation_p.M1452I	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCTTGGTTTCCATGAAGAGCT	0.512													False	0	False	6:143091520	0	A	143091520	C	A	143091520	3	1	138	1	0	0	0	0	1	0	0	0	7234	594	21	3	3008	3	HIVEP2	6	143091520	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		143091520	28023547	18	33651											
TTLL2	83887	broad.mit.edu	37	chr6	167753613	167753613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaacctcatttgatggcGgaagatgaaccttcaggggc	11	8	2	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:167753613G>A	ENST00000239587.5	+	3	313	c.225G>A	c.(223-225)gcG>gcA	p.A75A		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	75					protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.A75A(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATTTGATGGCGGAAGATGAAC	0.507													False	0	False	6:167753613	0	A	167753613	G	A	167753613	2	1	138	1	0	0	0	0	0	0	0	1	16811	1103	39	1		1	TTLL2	6	167753613	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	24662093	167753613	3361454	19	33652											
THBS2	7058	broad.mit.edu	37	chr6	169622382	169622382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccttgagggacacgccGgagtagccataggcccgcgt	13	14	0	1	rs151152352		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:169622382G>A	ENST00000366787.3	-	20	3432	c.3183C>T	c.(3181-3183)tcC>tcT	p.S1061S	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1061	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGACACGCCGGAGTAGCCAT	0.637													False	0	False	6:169622382	0	A	169622382	G	A	169622382	2	1	138	1	0	0	0	0	0	0	0	1	15936	1103	39	1		1	THBS2	6	169622382	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	1868769	169622382	1492685	20	33653											
TNRC18	84629	broad.mit.edu	37	chr7	5348537	5348537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcctctggctggagaccCgcagggccgccgggaggctg	16	15	1	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:5348537C>T	ENST00000399537.4	-	29	9017	c.8669G>A	c.(8668-8670)cGg>cAg	p.R2890Q	TNRC18_ENST00000430969.1_Missense_Mutation_p.R2890Q			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2890	BAH.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCTGGAGACCCGCAGGGCCGC	0.692													False	0	True	7:5348537	0	T	5348537	C	T	5348537	3	4	138	1	0	0	0	0	1	0	0	0	16421	652	23	1	245	1	TNRC18	7	5348537	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		5348537	153790126	21	33654											
DNAH11	8701	broad.mit.edu	37	chr7	21631113	21631113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacgagaggcagccttcaCcttggaggacaagggtgatt	14	9	1	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:21631113C>T	ENST00000328843.6	+	14	2616	c.2585C>T	c.(2584-2586)aCc>aTc	p.T862I	DNAH11_ENST00000409508.3_Missense_Mutation_p.T862I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	862	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCAGCCTTCACCTTGGAGGAC	0.502									Kartagener syndrome				False	0	False	7:21631113	0	T	21631113	C	T	21631113	3	4	138	1	0	0	0	0	1	0	0	0	4629	507	18	2	2639	2	DNAH11	7	21631113	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	16282576	21631113	137507550	22	33655											
INHBA	3624	broad.mit.edu	37	chr7	41729994	41729994	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccctgcgggtgcttctGctgctggaagaggcggatgg	18	10	1	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:41729994G>A	ENST00000242208.4	-	3	781	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Nonsense_Mutation_p.Q179*|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	179					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGTGCTTCTGCTGCTGGAAG	0.562										TSP Lung(11;0.080)			False	0	True	7:41729994	0	A	41729994	G	A	41729994	4	1	138	1	0	0	0	0	0	1	0	0	7791	1328	46	2	749	2	INHBA	7	41729994	Nonsense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	20098881	41729994	117408669	23	33656											
GLI3	2737	broad.mit.edu	37	chr7	42188061	42188061	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gataagtctgtccaggacttTcatcctctaaagaaagaaga	8	8	3	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:42188061T>A	ENST00000395925.3	-	3	215	c.131A>T	c.(130-132)gAa>gTa	p.E44V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	44					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCCAGGACTTTCATCCTCTAA	0.403									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	True	7:42188061	0	A	42188061	T	A	42188061	3	1	138	1	0	0	0	0	1	0	0	0	6484	1783	62	5	4663	5	GLI3	7	42188061	Missense_Mutation	SNP	T	TCGA-XD-AAUH-01A-42D-A40W-08	458067	42188061	116950602	24	33657											
FGL2	10875	broad.mit.edu	37	chr7	76825927	76825927	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattatagttaccaacgtgtAaacgatatttgagaaactca	6	7	1	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:76825927A>T	ENST00000248598.5	-	2	1021	c.989T>A	c.(988-990)tTa>tAa	p.L330*	CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	330	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ACCAACGTGTAAACGATATTT	0.358													False	0	True	7:76825927	0	T	76825927	A	T	76825927	4	4	138	1	0	0	0	0	0	1	0	0	5913	372	13	5	334	5	FGL2	7	76825927	Nonsense_Mutation	SNP	A	TCGA-XD-AAUH-01A-42D-A40W-08	34637866	76825927	82312736	25	33658											
WDR60	55112	broad.mit.edu	37	chr7	158716310	158716310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcatttttactgtttgccGgaacagcgcacggctcagtt	10	10	1	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:158716310G>A	ENST00000407559.3	+	17	2301	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	715										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACTGTTTGCCGGAACAGCGCA	0.502													False	0	False	7:158716310	0	A	158716310	G	A	158716310	3	1	138	1	0	0	0	0	1	0	0	0	17395	1117	39	1	2209	1	WDR60	7	158716310	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	81890383	158716310	422353	26	33659											
SMC5	23137	broad.mit.edu	37	chr9	72920223	72920223	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatattccatcaaatgacTtaagagcctttgtatttgaa	5	7	2	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr9:72920223T>G	ENST00000361138.5	+	11	1583	c.1525T>G	c.(1525-1527)Tta>Gta	p.L509V		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	509	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ATCAAATGACTTAAGAGCCTT	0.308													False	0	False	9:72920223	0	G	72920223	T	G	72920223	3	3	138	1	0	0	0	0	1	0	0	0	14866	1606	56	4	1567	4	SMC5	9	72920223	Missense_Mutation	SNP	T	TCGA-XD-AAUH-01A-42D-A40W-08		72920223	68293208	27	33660											
ERLIN1	10613	broad.mit.edu	37	chr10	101911917	101911917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctctttgttttggatgaCgttctctccagagggttcaa	10	9	3	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr10:101911917C>T	ENST00000421367.2	-	11	3725	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	ERLIN1_ENST00000407654.3_Missense_Mutation_p.V340I	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	338					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		TTTTGGATGACGTTCTCTCCA	0.458													False	0	False	10:101911917	0	T	101911917	C	T	101911917	3	4	138	1	0	0	0	0	1	0	0	0	5264	536	19	1	32	1	ERLIN1	10	101911917	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		101911917	33622830	28	33661											
CPT1A	1374	broad.mit.edu	37	chr11	68549244	68549244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtaaggacggtacctgtcGtaacatcggccgtgtagtag	14	8	0	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:68549244G>A	ENST00000265641.5	-	11	1501	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y	CPT1A_ENST00000540367.1_Silent_p.Y449Y|CPT1A_ENST00000539743.1_Silent_p.Y449Y|CPT1A_ENST00000376618.2_Silent_p.Y449Y	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	449					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTACCTGTCGTAACATCGGC	0.473													False	0	False	11:68549244	0	A	68549244	G	A	68549244	2	1	138	1	0	0	0	0	0	0	0	1	3854	1140	40	1		1	CPT1A	11	68549244	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08		68549244	66457272	29	33662											
CCDC67	159989	broad.mit.edu	37	chr11	93088643	93088643	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcgggctttggagacaCgattagatcttcgggatcaa	13	7	2	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:93088643C>T	ENST00000298050.3	+	3	236	c.136C>T	c.(136-138)Cga>Tga	p.R46*	CCDC67_ENST00000527307.1_Nonsense_Mutation_p.R46*|CCDC67_ENST00000530053.1_3'UTR	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	46										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTTGGAGACACGATTAGATCT	0.388													False	0	False	11:93088643	0	T	93088643	C	T	93088643	4	4	138	1	0	0	0	0	0	1	0	0	2860	528	19	1	142	1	CCDC67	11	93088643	Nonsense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	24539399	93088643	41917873	30	33663											
E2F7	144455	broad.mit.edu	37	chr12	77423797	77423797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgaccctgaccctgaCgctggtccctcctgcagact	8	18	1	4			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:77423797C>T	ENST00000322886.7	-	10	1933	c.1698G>A	c.(1696-1698)gcG>gcA	p.A566A	E2F7_ENST00000416496.2_Silent_p.A566A	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	566					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGACCCTGACGCTGGTCCCT	0.582													False	0	False	12:77423797	0	T	77423797	C	T	77423797	2	4	138	1	0	0	0	0	0	0	0	1	4902	523	19	1		1	E2F7	12	77423797	Silent	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		77423797	56428098	31	33664											
ALX1	8092	broad.mit.edu	37	chr12	85674140	85674140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggagcacgttatggagaCgctggacaatgagtcctttt	12	8	1	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:85674140C>T	ENST00000316824.3	+	1	256	c.101C>T	c.(100-102)aCg>aTg	p.T34M		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	34					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GTTATGGAGACGCTGGACAAT	0.567													False	0	False	12:85674140	0	T	85674140	C	T	85674140	3	4	138	1	0	0	0	0	1	0	0	0	556	536	19	1	103	1	ALX1	12	85674140	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	8250343	85674140	48177755	32	33665											
RNF10	9921	broad.mit.edu	37	chr12	121000776	121000776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggctctgtcgggattggCcggaagcagaagggaggtca	18	7	2	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:121000776C>T	ENST00000325954.4	+	8	1618	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	RNF10_ENST00000413266.2_Missense_Mutation_p.A386V	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	386					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGGGATTGGCCGGAAGCAGA	0.542													False	0	False	12:121000776	0	T	121000776	C	T	121000776	3	4	138	1	0	0	0	0	1	0	0	0	13501	739	26	2	1187	2	RNF10	12	121000776	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	35326636	121000776	12851119	33	33666											
TMEM132D	121256	broad.mit.edu	37	chr12	130185196	130185196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggggaggtaggtgggcaGcaaggaaaacctctggatgc	17	8	1	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:130185196G>A	ENST00000422113.2	-	2	453	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	43						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TAGGTGGGCAGCAAGGAAAAC	0.557													False	0	False	12:130185196	0	A	130185196	G	A	130185196	2	1	138	1	0	0	0	0	0	0	0	1	16129	962	34	2		2	TMEM132D	12	130185196	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	9184420	130185196	3666699	34	33667											
TLN2	83660	broad.mit.edu	37	chr15	63054530	63054530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgctggagagttcatcGtacctcattcgcactgcacg	9	13	2	1	rs138708550		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:63054530G>A	ENST00000561311.1	+	38	5069	c.4839G>A	c.(4837-4839)tcG>tcA	p.S1613S	TLN2_ENST00000472902.1_Silent_p.S6S|TLN2_ENST00000306829.6_Silent_p.S1613S			Q9Y4G6	TLN2_HUMAN	talin 2	1613					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAGTTCATCGTACCTCATTC	0.542													False	0	False	15:63054530	0	A	63054530	G	A	63054530	2	1	138	1	0	0	0	0	0	0	0	1	16030	1132	40	1		1	TLN2	15	63054530	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08		63054530	39476862	35	33668											
SPESP1	246777	broad.mit.edu	37	chr15	69238075	69238075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaacatgtttattctataGcatcaaagggatcaaaattt	5	6	3	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:69238075G>A	ENST00000310673.3	+	2	356	c.202G>A	c.(202-204)Gca>Aca	p.A68T	SPESP1_ENST00000560188.1_3'UTR|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	68					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TTATTCTATAGCATCAAAGGG	0.368													False	0	False	15:69238075	0	A	69238075	G	A	69238075	3	1	138	1	0	0	0	0	1	0	0	0	15122	971	34	2	208	2	SPESP1	15	69238075	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	6183545	69238075	33293317	36	33669											
MYH11	4629	broad.mit.edu	37	chr16	15931828	15931828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggaggcttcgttgaggcaCgtcagctccgccatgtcctc	12	14	1	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:15931828C>T	ENST00000452625.2	-	2	369	c.282G>A	c.(280-282)acG>acA	p.T94T	MYH11_ENST00000396324.3_Silent_p.T94T|MYH11_ENST00000300036.5_Silent_p.T94T|MYH11_ENST00000576790.2_Silent_p.T94T	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	94	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGTTGAGGCACGTCAGCTCCG	0.547			T	CBFB	AML								False	0	False	16:15931828	0	T	15931828	C	T	15931828	2	4	138	1	0	0	0	0	0	0	0	1	10098	523	19	1		1	MYH11	16	15931828	Silent	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		15931828	74422925	37	33670											
ATP2A1	487	broad.mit.edu	37	chr16	28909687	28909687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggccgggacaccctgcGctgcttggccctggccaccc	12	19	0	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:28909687G>A	ENST00000395503.4	+	14	1863	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	ATP2A1_ENST00000357084.3_Missense_Mutation_p.R560H|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R435H	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	560					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GACACCCTGCGCTGCTTGGCC	0.637													False	0	False	16:28909687	0	A	28909687	G	A	28909687	3	1	138	1	0	0	0	0	1	0	0	0	1140	1087	38	1	1733	1	ATP2A1	16	28909687	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	12977859	28909687	61445066	38	33671											
SETD1A	9739	broad.mit.edu	37	chr16	30978877	30978877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaggaaaagaggcctcGtccctccactcctgctgagg	12	13	0	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:30978877G>A	ENST00000262519.8	+	10	3424	c.2738G>A	c.(2737-2739)cGt>cAt	p.R913H		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	913	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AAGAGGCCTCGTCCCTCCACT	0.557													False	0	False	16:30978877	0	A	30978877	G	A	30978877	3	1	138	1	0	0	0	0	1	0	0	0	14211	1145	40	1	2772	1	SETD1A	16	30978877	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	2069190	30978877	59375876	39	33672											
HEATR3	55027	broad.mit.edu	37	chr16	50128699	50128699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatggcctccaagaacattTcccaggtaagagttttaaaa	7	9	0	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:50128699T>C	ENST00000299192.7	+	12	1785	c.1594T>C	c.(1594-1596)Tcc>Ccc	p.S532P	HEATR3_ENST00000285767.4_Missense_Mutation_p.S446P|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	532							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CAAGAACATTTCCCAGGTAAG	0.308													False	0	True	16:50128699	0	C	50128699	T	C	50128699	3	2	138	1	0	0	0	0	1	0	0	0	7076	1783	62	4	1640	4	HEATR3	16	50128699	Missense_Mutation	SNP	T	TCGA-XD-AAUH-01A-42D-A40W-08	19149822	50128699	40226054	40	33673											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	12	13	1	0	rs28934575		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			False	0	False	17:7577548	0	T	7577548	C	T	7577548	3	4	138	1	0	0	0	0	1	0	0	0	16464	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		7577548	73617662	41	33674											
JAK3	3718	broad.mit.edu	37	chr19	17945947	17945947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactcagcttgatgaagggCgggctcccatcagccccctc	10	16	3	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:17945947C>T	ENST00000458235.1	-	15	2091	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_ENST00000527670.1_Silent_p.P664P|JAK3_ENST00000534444.1_Silent_p.P664P	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	664	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGATGAAGGGCGGGCTCCCAT	0.637		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								False	0	True	19:17945947	0	T	17945947	C	T	17945947	2	4	138	1	0	0	0	0	0	0	0	1	7989	755	27	1		1	JAK3	19	17945947	Silent	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		17945947	41183036	42	33675											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	12	14	1	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627													False	0	False	19:40395919	0	A	40395919	G	A	40395919	3	1	138	1	0	0	0	0	1	0	0	0	5818	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	22449972	40395919	18733064	43	33676											
IZUMO1	284359	broad.mit.edu	37	chr19	49245081	49245081	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgatgatcgtggctgggctgGaattcacagagcccagctcg	14	10	1	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:49245081G>C	ENST00000332955.2	-	8	1266	c.719C>G	c.(718-720)tCc>tGc	p.S240C		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	240	Ig-like C2-type.				fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGCTGGGCTGGAATTCACAGA	0.607													False	0	True	19:49245081	0	C	49245081	G	C	49245081	3	2	138	1	0	0	0	0	1	0	0	0	7983	1174	41	5	345	5	IZUMO1	19	49245081	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	8849162	49245081	9883902	44	33677											
CRYZL1	9946	broad.mit.edu	37	chr21	34975784	34975784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagagctgtataggcacGcactccatcccgaatgcttc	9	13	0	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr21:34975784G>A	ENST00000361534.2	-	8	602	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	CRYZL1_ENST00000381554.3_Missense_Mutation_p.R131C|CRYZL1_ENST00000381540.3_Missense_Mutation_p.R131C|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Missense_Mutation_p.R93C|CRYZL1_ENST00000290244.5_Missense_Mutation_p.R116C			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	131					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						GTATAGGCACGCACTCCATCC	0.423													False	0	True	21:34975784	0	A	34975784	G	A	34975784	3	1	138	1	0	0	0	0	1	0	0	0	3946	1087	38	1	686	1	CRYZL1	21	34975784	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08		34975784	13154111	45	33678											
DYRK1A	1859	broad.mit.edu	37	chr21	38884243	38884243	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatttcctgctcctcttggTtggtcaggcactgaagctcc	9	13	2	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr21:38884243T>A	ENST00000398956.2	+	10	1576	c.1576T>A	c.(1576-1578)Ttg>Atg	p.L526M	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000455387.2_Silent_p.G339G|DYRK1A_ENST00000398960.2_Silent_p.G567G|DYRK1A_ENST00000339659.4_Silent_p.G558G			Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	526					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTCCTCTTGGTTGGTCAGGCA	0.428													False	0	True	21:38884243	0	A	38884243	T	A	38884243	3	1	138	1	0	0	0	0	1	0	0	0	4884	1722	60	5	1827	5	DYRK1A	21	38884243	Missense_Mutation	SNP	T	TCGA-XD-AAUH-01A-42D-A40W-08	3908459	38884243	9245652	46	33679											
PHKA2	5256	broad.mit.edu	37	chrX	18927007	18927007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagcttctcacagtccaCgtcaccatggtcatctctgg	7	15	4	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:18927007C>T	ENST00000379942.4	-	21	2937	c.2272G>A	c.(2272-2274)Gtg>Atg	p.V758M		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	758					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCACAGTCCACGTCACCATGG	0.463													False	0	False	X:18927007	0	T	18927007	C	T	18927007	3	4	138	1	0	0	0	0	1	0	0	0	11913	536	19	1	1487	1	PHKA2	23	18927007	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		18927007	136343553	47	33680											
MTOR	2475	broad.mit.edu	37	chr1	11193143	11193143	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttctgatcaccttgtaCcagctgcggtcgtgctctgt	10	13	3	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:11193143C>G	ENST00000361445.4	-	38	5434	c.5358G>C	c.(5356-5358)tgG>tgC	p.W1786C	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1786	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCACCTTGTACCAGCTGCGGT	0.577													False	0	False	1:11193143	0	G	11193143	C	G	11193143	3	3	139	1	0	0	0	0	1	0	0	0	10021	508	18	5	2375	5	MTOR	1	11193143	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08		11193143	238057478	1	33681											
TRIM17	51127	broad.mit.edu	37	chr1	228596786	228596786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacttgtagaacccccccCattggtggcttccgaggcta	10	14	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:228596786C>T	ENST00000456946.2	-	6	1345	c.970G>A	c.(970-972)Ggg>Agg	p.G324R	TRIM17_ENST00000295033.3_Intron|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000366698.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GAACCCCCCCCATTGGTGGCT	0.577													False	0	True	1:228596786	0	T	228596786	C	T	228596786	3	4	139	1	0	0	0	0	1	0	0	0	16576	594	21	2	620	2	TRIM17	1	228596786	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	217403643	228596786	20653835	2	33682											
MYCN	4613	broad.mit.edu	37	chr2	16086019	16086019	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcgccgcaacgaccttcggTccagctttctcacgctcagg	10	16	2	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:16086019T>A	ENST00000281043.3	+	3	1492	c.1195T>A	c.(1195-1197)Tcc>Acc	p.S399T		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	399	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CGACCTTCGGTCCAGCTTTCT	0.562			A		neuroblastoma								False	0	False	2:16086019	0	A	16086019	T	A	16086019	3	1	139	1	0	0	0	0	1	0	0	0	10088	1667	58	5	1201	5	MYCN	2	16086019	Missense_Mutation	SNP	T	TCGA-XD-AAUI-01A-42D-A40W-08		16086019	227113354	3	33683											
SIX2	10736	broad.mit.edu	37	chr2	45233480	45233480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggcagcccagggggcggCgggctgaggagcagtgcggg	23	10	0	1	rs146943650	byFrequency	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:45233480C>T	ENST00000303077.6	-	2	1024	c.705G>A	c.(703-705)ccG>ccA	p.P235P		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	235						nucleus	sequence-specific DNA binding transcription factor activity	p.P235P(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGGGGGCGGCGGGCTGAGGA	0.706													False	0	True	2:45233480	0	T	45233480	C	T	45233480	2	4	139	1	0	0	0	0	0	0	0	1	14428	755	27	1		1	SIX2	2	45233480	Silent	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	29147461	45233480	197965893	4	33684											
FBXO11	80204	broad.mit.edu	37	chr2	48066031	48066031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattagcaagttcactgaagCgtttacatacacaagctgct	7	10	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:48066031C>T	ENST00000403359.3	-	4	626	c.554G>A	c.(553-555)cGc>cAc	p.R185H	FBXO11_ENST00000378314.3_Missense_Mutation_p.R67H|FBXO11_ENST00000316377.4_Missense_Mutation_p.R101H|FBXO11_ENST00000402508.1_Missense_Mutation_p.R101H|FBXO11_ENST00000480038.1_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	185	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCACTGAAGCGTTTACATAC	0.363			"Mis, F, D"		DLBCL								False	0	False	2:48066031	0	T	48066031	C	T	48066031	3	4	139	1	0	0	0	0	1	0	0	0	5767	768	27	1	2399	1	FBXO11	2	48066031	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	2832551	48066031	195133342	5	33685											
LRP1B	53353	broad.mit.edu	37	chr2	141533746	141533746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatggtggggtttcttccGtctcttttgctgcaggttcc	13	9	2	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:141533746G>A	ENST00000389484.3	-	33	6392	c.5421C>T	c.(5419-5421)gaC>gaT	p.D1807D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1807					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGTTTCTTCCGTCTCTTTTGC	0.383										TSP Lung(27;0.18)			False	0	False	2:141533746	0	A	141533746	G	A	141533746	2	1	139	1	0	0	0	0	0	0	0	1	9017	1136	40	1		1	LRP1B	2	141533746	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	93467715	141533746	101665627	6	33686											
SCN9A	6335	broad.mit.edu	37	chr2	167056341	167056341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagggtaggggacacaAaatacgtttcaatcaaatca	10	7	3	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:167056341A>G	ENST00000303354.6	-	27	5151	c.4811T>C	c.(4810-4812)tTt>tCt	p.F1604S	SCN9A_ENST00000375387.4_Missense_Mutation_p.F1604S|SCN9A_ENST00000409672.1_Missense_Mutation_p.F1592S|SCN9A_ENST00000409435.1_Missense_Mutation_p.F1603S|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1603						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGGGGACACAAAATACGTTTC	0.423													False	0	True	2:167056341	0	G	167056341	A	G	167056341	3	3	139	1	0	0	0	0	1	0	0	0	14006	14	1	4	1162	4	SCN9A	2	167056341	Missense_Mutation	SNP	A	TCGA-XD-AAUI-01A-42D-A40W-08	25522595	167056341	76143032	7	33687											
XIRP2	129446	broad.mit.edu	37	chr2	168103840	168103840	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatagtcttcttcagccaAagccaggtccatttgagcca	7	11	3	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:168103840A>C	ENST00000409195.1	+	9	6027	c.5938A>C	c.(5938-5940)Aag>Cag	p.K1980Q	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1980Q|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1758Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1805					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTTCAGCCAAAGCCAGGTCC	0.468													False	0	True	2:168103840	0	C	168103840	A	C	168103840	3	2	139	1	0	0	0	0	1	0	0	0	17514	15	1	4	5968	4	XIRP2	2	168103840	Missense_Mutation	SNP	A	TCGA-XD-AAUI-01A-42D-A40W-08	1047499	168103840	75095533	8	33688											
ALS2CR12	130540	broad.mit.edu	37	chr2	202172323	202172323	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttctcctgactccatttcGaattttttggtcatcttttt	4	10	4	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:202172323G>A	ENST00000405148.2	-	11	1241	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ALS2CR12_ENST00000392257.3_Silent_p.F266F|ALS2CR12_ENST00000286190.5_Silent_p.F266F|ALS2CR12_ENST00000439709.1_Silent_p.F266F	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	266					regulation of GTPase activity		protein binding	p.F266F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ACTCCATTTCGAATTTTTTGG	0.383													False	0	False	2:202172323	0	A	202172323	G	A	202172323	2	1	139	1	0	0	0	0	0	0	0	1	553	1049	37	1		1	ALS2CR12	2	202172323	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	34068483	202172323	41027050	9	33689											
ANKRD28	23243	broad.mit.edu	37	chr3	15720986	15720986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctggctttacttacacgGcacaatgcaatggactaaaa	7	9	1	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:15720986G>A	ENST00000399451.2	-	22	2751	c.2384C>T	c.(2383-2385)gCc>gTc	p.A795V	ANKRD28_ENST00000383777.1_Missense_Mutation_p.A828V|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	795						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TACTTACACGGCACAATGCAA	0.378													False	0	False	3:15720986	0	A	15720986	G	A	15720986	3	1	139	1	0	0	0	0	1	0	0	0	656	1203	42	2	805	2	ANKRD28	3	15720986	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		15720986	182301444	10	33690											
TLR9	54106	broad.mit.edu	37	chr3	52257685	52257685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggctggaaggcaggttgCggggcaccacagtgaggttg	18	9	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:52257685C>T	ENST00000597542.1	-	9	1676	c.719G>A	c.(718-720)cGc>cAc	p.R240H	TLR9_ENST00000360658.2_Missense_Mutation_p.R216H|TLR9_ENST00000494383.1_Silent_p.P369P			Q9NR96	TLR9_HUMAN	toll-like receptor 9	216					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.R216H(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AGGCAGGTTGCGGGGCACCAC	0.632													False	0	True	3:52257685	0	T	52257685	C	T	52257685	3	4	139	1	0	0	0	0	1	0	0	0	16040	768	27	1	2455	1	TLR9	3	52257685	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	36536699	52257685	145764745	11	33691											
ITIH3	3699	broad.mit.edu	37	chr3	52829637	52829637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaacggagcctcccggaaGgggtaagaactttcaccagg	13	10	1	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:52829637G>A	ENST00000449956.2	+	2	118	c.112G>A	c.(112-114)Ggg>Agg	p.G38R	ITIH3_ENST00000416872.2_Missense_Mutation_p.G38R	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	38	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTCCCGGAAGGGGTAAGAAC	0.567													False	0	True	3:52829637	0	A	52829637	G	A	52829637	3	1	139	1	0	0	0	0	1	0	0	0	7955	1000	35	2	118	2	ITIH3	3	52829637	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	571952	52829637	145192793	12	33692											
BOC	91653	broad.mit.edu	37	chr3	112998688	112998688	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggcacctcctacaagtttCgagtccgggctctgaacatg	10	13	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:112998688C>T	ENST00000495514.1	+	13	2742	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	BOC_ENST00000273395.4_Nonsense_Mutation_p.R681*|BOC_ENST00000355385.3_Nonsense_Mutation_p.R680*			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	680	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTACAAGTTTCGAGTCCGGGC	0.622													False	0	True	3:112998688	0	T	112998688	C	T	112998688	4	4	139	1	0	0	0	0	0	1	0	0	1486	876	31	1	2080	1	BOC	3	112998688	Nonsense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	60169051	112998688	85023742	13	33693											
DHX36	170506	broad.mit.edu	37	chr3	154018839	154018839	+	Missense_Mutation	SNP	T	T	A													atattgcttctttttcttctTtttcttgtctatttacatgc							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:154018839T>A	ENST00000496811.1	-	10	1375	c.1295A>T	c.(1294-1296)aAa>aTa	p.K432I	DHX36_ENST00000329463.5_Missense_Mutation_p.K432I|DHX36_ENST00000308361.6_Missense_Mutation_p.K432I|DHX36_ENST00000544526.1_Missense_Mutation_p.K432I	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	432						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTTCTTCTTTTTCTTGTCT	0.353													False	0	True	3:154018839	0	A	154018839	T	A	154018839	3	1	139	1	0	0	0	0	1	0	0	0	4539	1841	64	5	1795	5	DHX36	3	154018839	Missense_Mutation	SNP	T	TCGA-XD-AAUI-01A-42D-A40W-08	41020151	154018839	44003591	14	33694	387	2									
DHX36	170506	broad.mit.edu	37	chr3	154018849	154018849	+	Missense_Mutation	SNP	T	T	C													tttttcttctttttcttgtcTatttacatgcccttgcatga							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:154018849T>C	ENST00000496811.1	-	10	1365	c.1285A>G	c.(1285-1287)Aga>Gga	p.R429G	DHX36_ENST00000329463.5_Missense_Mutation_p.R429G|DHX36_ENST00000308361.6_Missense_Mutation_p.R429G|DHX36_ENST00000544526.1_Missense_Mutation_p.R429G	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	429						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTCTTGTCTATTTACATGC	0.343													False	0	False	3:154018849	0	C	154018849	T	C	154018849	3	2	139	1	0	0	0	0	1	0	0	0	4539	1530	53	4	1805	4	DHX36	3	154018849	Missense_Mutation	SNP	T	TCGA-XD-AAUI-01A-42D-A40W-08	10	154018849	44003581	15	33695	387	2									
CDH18	1016	broad.mit.edu	37	chr5	19838947	19838947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacccatccccttttgggaCgatgatggacttcggtttca	9	11	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:19838947C>T	ENST00000507958.1	-	5	1139	c.149G>A	c.(148-150)cGt>cAt	p.R50H	CDH18_ENST00000382275.1_Missense_Mutation_p.R50H|CDH18_ENST00000506372.1_Missense_Mutation_p.R50H|CDH18_ENST00000274170.4_Missense_Mutation_p.R50H|CDH18_ENST00000511273.1_Missense_Mutation_p.R50H|CDH18_ENST00000502796.1_Missense_Mutation_p.R50H			Q13634	CAD18_HUMAN	cadherin 18, type 2	50					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCTTTTGGGACGATGATGGAC	0.418													False	0	False	5:19838947	0	T	19838947	C	T	19838947	3	4	139	1	0	0	0	0	1	0	0	0	3126	536	19	1	2267	1	CDH18	5	19838947	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08		19838947	161076313	16	33696											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	139	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-XD-AAUI-01A-42D-A40W-08	58771497	78610444	102304816	17	33697											
MATR3	9782	broad.mit.edu	37	chr5	138643724	138643724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattatgaccatggaagtcGttctcaagaatctggttatt	9	6	2	3			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:138643724G>A	ENST00000394800.2	+	6	1169	c.620G>A	c.(619-621)cGt>cAt	p.R207H	MATR3_ENST00000502499.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.R207H|MATR3_ENST00000510056.1_Missense_Mutation_p.R207H|MATR3_ENST00000509990.1_Missense_Mutation_p.R207H|MATR3_ENST00000394805.3_Missense_Mutation_p.R207H|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.R207H			P43243	MATR3_HUMAN	matrin 3	207						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATGGAAGTCGTTCTCAAGAA	0.403													False	0	False	5:138643724	0	A	138643724	G	A	138643724	3	1	139	1	0	0	0	0	1	0	0	0	9404	1145	40	1	622	1	MATR3	5	138643724	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	60033280	138643724	42271536	18	33698											
DDX43	55510	broad.mit.edu	37	chr6	74104815	74104815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccggaggccgtggccGctggtcacgaggaactgccg	17	15	1	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr6:74104815G>A	ENST00000370336.4	+	1	345	c.187G>A	c.(187-189)Gct>Act	p.A63T	DDX43_ENST00000539829.1_Missense_Mutation_p.A63T|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	63						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGCCGTGGCCGCTGGTCACGA	0.617											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	False	0	False	6:74104815	0	A	74104815	G	A	74104815	3	1	139	1	0	0	0	0	1	0	0	0	4388	1087	38	1	189	1	DDX43	6	74104815	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		74104815	97010252	19	33699											
ZNF273	10793	broad.mit.edu	37	chr7	64388822	64388822	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattcatactggagagaaAccctacaaatgtgaagaatg	9	6	1	4			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr7:64388822A>G	ENST00000476120.1	+	4	1187	c.1116A>G	c.(1114-1116)aaA>aaG	p.K372K	ZNF273_ENST00000319636.5_Silent_p.K307K|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K372K(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTGGAGAGAAACCCTACAAAT	0.383													False	0	True	7:64388822	0	G	64388822	A	G	64388822	2	3	139	1	0	0	0	0	0	0	0	1	17891	40	2	4		4	ZNF273	7	64388822	Silent	SNP	A	TCGA-XD-AAUI-01A-42D-A40W-08		64388822	94749841	20	33700											
TRRAP	8295	broad.mit.edu	37	chr7	98533290	98533290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgtacctttacgaattgCggcattaagtaagttaatga	8	7	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr7:98533290C>T	ENST00000359863.4	+	28	4312	c.4103C>T	c.(4102-4104)gCg>gTg	p.A1368V	TRRAP_ENST00000355540.3_Missense_Mutation_p.A1368V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1367V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1368					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTACGAATTGCGGCATTAAGT	0.393													False	0	False	7:98533290	0	T	98533290	C	T	98533290	3	4	139	1	0	0	0	0	1	0	0	0	16684	768	27	1	4209	1	TRRAP	7	98533290	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	34144468	98533290	60605373	21	33701											
COL14A1	7373	broad.mit.edu	37	chr8	121243763	121243763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaactacttctagcctgcGggtaaaatgggacatttctg	10	8	2	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr8:121243763G>A	ENST00000297848.3	+	19	2525	c.2255G>A	c.(2254-2256)cGg>cAg	p.R752Q	COL14A1_ENST00000309791.4_Missense_Mutation_p.R752Q|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.R657Q|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	752	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTAGCCTGCGGGTAAAATGG	0.438													False	0	True	8:121243763	0	A	121243763	G	A	121243763	3	1	139	1	0	0	0	0	1	0	0	0	3694	1116	39	1	2325	1	COL14A1	8	121243763	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		121243763	25120259	22	33702											
KIAA1045	23349	broad.mit.edu	37	chr9	34971545	34971545	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcctgggagcggctccgaGatgggcgcggcgtggagcct	19	12	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr9:34971545G>A	ENST00000242315.3	+	2	332	c.250G>A	c.(250-252)Gat>Aat	p.D84N	KIAA1045_ENST00000544237.1_Missense_Mutation_p.D84N|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	84							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCGGCTCCGAGATGGGCGCGG	0.632													False	0	False	9:34971545	0	A	34971545	G	A	34971545	3	1	139	1	0	0	0	0	1	0	0	0	8257	942	33	2	252	2	KIAA1045	9	34971545	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		34971545	106241886	23	33703											
FRMD4A	55691	broad.mit.edu	37	chr10	13736001	13736001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtctcggtcaggtcgatGgcgatctcactcaggctgcg	13	14	4	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:13736001G>A	ENST00000357447.2	-	15	1382	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	FRMD4A_ENST00000342409.2_Silent_p.A354A|FRMD4A_ENST00000378503.1_Silent_p.A338A|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000358621.4_Silent_p.A323A	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	338						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCAGGTCGATGGCGATCTCAC	0.572													False	0	False	10:13736001	0	A	13736001	G	A	13736001	2	1	139	1	0	0	0	0	0	0	0	1	6093	1335	47	2		2	FRMD4A	10	13736001	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		13736001	121798746	24	33704											
PARD3	56288	broad.mit.edu	37	chr10	34663857	34663857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaccagaaggctcacagttCcttccatcttggtgcttctc	8	13	3	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:34663857C>T	ENST00000374789.3	-	11	1938	c.1613G>A	c.(1612-1614)gGa>gAa	p.G538E	PARD3_ENST00000374794.3_Missense_Mutation_p.G494E|PARD3_ENST00000545693.1_Missense_Mutation_p.G538E|PARD3_ENST00000340077.5_Missense_Mutation_p.G538E|PARD3_ENST00000350537.4_Missense_Mutation_p.G538E|PARD3_ENST00000374788.3_Missense_Mutation_p.G538E|PARD3_ENST00000374790.3_Missense_Mutation_p.G494E|PARD3_ENST00000374776.1_Missense_Mutation_p.G538E|PARD3_ENST00000544292.1_Missense_Mutation_p.G268E|PARD3_ENST00000374773.1_Missense_Mutation_p.G538E|PARD3_ENST00000545260.1_Missense_Mutation_p.G494E|PARD3_ENST00000346874.4_Missense_Mutation_p.G538E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	538	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCTCACAGTTCCTTCCATCTT	0.438													False	0	True	10:34663857	0	T	34663857	C	T	34663857	3	4	139	1	0	0	0	0	1	0	0	0	11511	855	30	2	2552	2	PARD3	10	34663857	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	20927856	34663857	100870890	25	33705											
CHAT	1103	broad.mit.edu	37	chr10	50857681	50857681	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggcagaaaaacttcaaCggtaaggataaccgaagtct	9	10	2	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:50857681C>T	ENST00000395562.2	+	11	1733	c.1264C>T	c.(1264-1266)Cga>Tga	p.R422*	CHAT_ENST00000337653.2_Splice_Site_p.R504*|CHAT_ENST00000339797.1_Splice_Site_p.R386*|CHAT_ENST00000455728.2_Splice_Site_p.R386*|CHAT_ENST00000351556.3_Splice_Site_p.R386*|CHAT_ENST00000395559.2_Splice_Site_p.R386*	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	504					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AAAACTTCAACGGTAAGGATA	0.602													False	0	False	10:50857681	0	T	50857681	C	T	50857681	5	4	139	1	0	0	0	0	0	0	1	0	3336	550	19	1	1592	1	CHAT	10	50857681	Splice_Site	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	16193824	50857681	84677066	26	33706											
NUP98	4928	broad.mit.edu	37	chr11	3704600	3704600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtaaggaaagtctctttaGcccaagattcaggggtctcc	12	9	3	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:3704600G>A	ENST00000324932.7	-	30	5168	c.4748C>T	c.(4747-4749)gCt>gTt	p.A1583V	NUP98_ENST00000359171.4_Missense_Mutation_p.A1509V|NUP98_ENST00000355260.3_Missense_Mutation_p.A1509V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1600					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTCTCTTTAGCCCAAGATTC	0.512			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								False	0	True	11:3704600	0	A	3704600	G	A	3704600	3	1	139	1	0	0	0	0	1	0	0	0	10841	971	34	2	670	2	NUP98	11	3704600	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		3704600	131301916	27	33707											
C2CD2L	9854	broad.mit.edu	37	chr11	118982297	118982297	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagtggaccaagcccgCgagggctggatccgaggtgg	18	10	0	1	rs140133210		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:118982297C>A	ENST00000336702.3	+	7	1336	c.977C>A	c.(976-978)gCg>gAg	p.A326E	C2CD2L_ENST00000528586.1_Missense_Mutation_p.A74E	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	326						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						ACCAAGCCCGCGAGGGCTGGA	0.562													False	0	False	11:118982297	0	A	118982297	C	A	118982297	3	1	139	1	0	0	0	0	1	0	0	0	2169	768	27	3	1003	3	C2CD2L	11	118982297	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	115277697	118982297	16024219	28	33708											
ABCG4	64137	broad.mit.edu	37	chr11	119024778	119024778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcaggtaaattctgccGccgggagctgattggcatca	11	12	3	1	rs145297995		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:119024778G>A	ENST00000307417.3	+	3	645	c.281G>A	c.(280-282)cGc>cAc	p.R94H	ABCG4_ENST00000531739.1_Missense_Mutation_p.R94H|ABCG4_ENST00000449422.2_Missense_Mutation_p.R94H	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	94	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AAATTCTGCCGCCGGGAGCTG	0.527													False	0	False	11:119024778	0	A	119024778	G	A	119024778	3	1	139	1	0	0	0	0	1	0	0	0	70	1087	38	1	287	1	ABCG4	11	119024778	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	42481	119024778	15981738	29	33709											
ITFG2	55846	broad.mit.edu	37	chr12	2929953	2929953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactgatggtgtctcagccaGgttgtgcgtatgcaattcta	11	8	2	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:2929953G>T	ENST00000228799.2	+	6	749	c.610G>T	c.(610-612)Ggt>Tgt	p.G204C	ITFG2_ENST00000419778.2_Missense_Mutation_p.G27C|ITFG2_ENST00000542548.1_Missense_Mutation_p.G92C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	204										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTCTCAGCCAGGTTGTGCGTA	0.562													False	0	False	12:2929953	0	T	2929953	G	T	2929953	3	4	139	1	0	0	0	0	1	0	0	0	7920	1000	35	3	632	3	ITFG2	12	2929953	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		2929953	130921942	30	33710											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	139	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	22468331	25398284	108453611	31	33711											
PLXNC1	10154	broad.mit.edu	37	chr12	94641698	94641698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctctgaatattgtgtggCgacttactgcgggtttttag	13	6	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:94641698C>T	ENST00000258526.4	+	13	2657	c.2408C>T	c.(2407-2409)gCg>gTg	p.A803V		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	803					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TATTGTGTGGCGACTTACTGC	0.428													False	0	False	12:94641698	0	T	94641698	C	T	94641698	3	4	139	1	0	0	0	0	1	0	0	0	12195	768	27	1	2458	1	PLXNC1	12	94641698	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	69243414	94641698	39210197	32	33712											
MLXIP	22877	broad.mit.edu	37	chr12	122623075	122623075	+	Frame_Shift_Del	DEL	C	C	-													cggcggctgcgggaggagatCgaggagctcaatgccaccat							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:122623075delC	ENST00000319080.6	+	14	2493	c.2361delC	c.(2359-2361)atcfs	p.I787fs	MLXIP_ENST00000538698.1_Frame_Shift_Del_p.I394fs			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	787	Leucine-zipper.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGGAGGAGATCGAGGAGCTCA	0.632													False	1	False	12:122623075	0	-	122623075	C	-	122623075	7	5	139	1	0	1	0	1	0	0	0	0	9703	874	31	0	2415	0	MLXIP	12	122623075	Frame_Shift_Del	DEL	C	TCGA-XD-AAUI-01A-42D-A40W-08	27981377	122623075	11228820	33	33713											
FZD10	11211	broad.mit.edu	37	chr12	130649223	130649223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatccctgcccagtcgcccaCctgcgtgtgaacagggctgg	13	15	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:130649223C>A	ENST00000229030.4	+	1	2220	c.1736C>A	c.(1735-1737)aCc>aAc	p.T579N	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	579					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CAGTCGCCCACCTGCGTGTGA	0.527													False	0	False	12:130649223	0	A	130649223	C	A	130649223	3	1	139	1	0	0	0	0	1	0	0	0	6171	507	18	3	1738	3	FZD10	12	130649223	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	8026148	130649223	3202672	34	33714											
GPC6	10082	broad.mit.edu	37	chr13	95034762	95034762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagagcgtgacagcgggcaCgtccaacgaggaggaatgct	16	10	0	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr13:95034762C>T	ENST00000377047.4	+	7	1862	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	416						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ACAGCGGGCACGTCCAACGAG	0.537													False	0	False	13:95034762	0	T	95034762	C	T	95034762	3	4	139	1	0	0	0	0	1	0	0	0	6648	536	19	1	1273	1	GPC6	13	95034762	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08		95034762	20135116	35	33715											
PYGL	5836	broad.mit.edu	37	chr14	51387719	51387719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccgagcagaccagaggcGcatggtgttgacagtgttat	14	9	0	3			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr14:51387719G>A	ENST00000216392.7	-	6	1059	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	PYGL_ENST00000544180.2_Missense_Mutation_p.R209C|PYGL_ENST00000532462.1_Missense_Mutation_p.R243C	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	243					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GACCAGAGGCGCATGGTGTTG	0.498													False	0	False	14:51387719	0	A	51387719	G	A	51387719	3	1	139	1	0	0	0	0	1	0	0	0	12940	1087	38	1	1876	1	PYGL	14	51387719	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		51387719	55961821	36	33716											
PLEKHG3	26030	broad.mit.edu	37	chr14	65210050	65210050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtcgggcagggtgggcCgctgccgcagcctgagcacc	16	15	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr14:65210050C>T	ENST00000247226.7	+	15	3429	c.3121C>T	c.(3121-3123)Cgc>Tgc	p.R1041C	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R602C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R630C|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R1097C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1097					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CAGGGTGGGCCGCTGCCGCAG	0.731													False	0	False	14:65210050	0	T	65210050	C	T	65210050	3	4	139	1	0	0	0	0	1	0	0	0	12139	652	23	1	3175	1	PLEKHG3	14	65210050	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	13822331	65210050	42139490	37	33717											
RYR3	6263	broad.mit.edu	37	chr15	33895400	33895400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtacttcgagctgattatcGaccaggtggaccccttccta	10	12	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:33895400G>A	ENST00000389232.4	+	18	2069	c.1999G>A	c.(1999-2001)Gac>Aac	p.D667N	RYR3_ENST00000415757.3_Missense_Mutation_p.D667N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	667	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGATTATCGACCAGGTGGA	0.567													False	0	False	15:33895400	0	A	33895400	G	A	33895400	3	1	139	1	0	0	0	0	1	0	0	0	13849	1058	37	1	2069	1	RYR3	15	33895400	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		33895400	68635992	38	33718											
RYR3	6263	broad.mit.edu	37	chr15	34130000	34130000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agatggtaaaggaattatctCcaaaaaagaattccagaagg	9	5	1	3			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:34130000C>A	ENST00000389232.4	+	89	11889	c.11819C>A	c.(11818-11820)tCc>tAc	p.S3940Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3935Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3940	EF-hand.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAATTATCTCCAAAAAAGAA	0.398													False	0	False	15:34130000	0	A	34130000	C	A	34130000	3	1	139	1	0	0	0	0	1	0	0	0	13849	855	30	3	12173	3	RYR3	15	34130000	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	234600	34130000	68401392	39	33719											
TMC3	342125	broad.mit.edu	37	chr15	81650502	81650502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcatacttttttaaaagaAtgatgaagctgtaagcaaac	7	5	1	3			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:81650502A>G	ENST00000558726.1	-	7	866	c.731T>C	c.(730-732)aTt>aCt	p.I244T	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.I244T|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	244						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTTTAAAAGAATGATGAAGCT	0.408													False	0	False	15:81650502	0	G	81650502	A	G	81650502	3	3	139	1	0	0	0	0	1	0	0	0	16068	101	4	4	2635	4	TMC3	15	81650502	Missense_Mutation	SNP	A	TCGA-XD-AAUI-01A-42D-A40W-08	47520502	81650502	20880890	40	33720											
IFT140	9742	broad.mit.edu	37	chr16	1633329	1633329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacctgcactccgtatcGcggctccagaaagctcgaag	9	16	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:1633329G>A	ENST00000426508.2	-	12	1781	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	473										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACTCCGTATCGCGGCTCCAGA	0.567													False	0	False	16:1633329	0	A	1633329	G	A	1633329	3	1	139	1	0	0	0	0	1	0	0	0	7606	1087	38	1	3050	1	IFT140	16	1633329	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		1633329	88721424	41	33721											
PKD1	5310	broad.mit.edu	37	chr16	2162878	2162878	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcacggccggcactgtggaGacctgcagaccctgcatcct	12	15	0	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:2162878G>A	ENST00000262304.4	-	13	3280	c.3072C>T	c.(3070-3072)gtC>gtT	p.V1024V	PKD1_ENST00000423118.1_Silent_p.V1024V|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1024	PKD 5.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCACTGTGGAGACCTGCAGAC	0.642													False	0	False	16:2162878	0	A	2162878	G	A	2162878	2	1	139	1	0	0	0	0	0	0	0	1	12032	929	33	2		2	PKD1	16	2162878	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	529549	2162878	88191875	42	33722											
CHST5	23563	broad.mit.edu	37	chr16	75564081	75564081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgagcgccacgaggacaGcaccagcacgtgcacacgat	12	16	0	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:75564081G>A	ENST00000336257.3	-	3	1596	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	CHST5_ENST00000541075.1_Silent_p.L74L|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	68					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CACGAGGACAGCACCAGCACG	0.662													False	0	True	16:75564081	0	A	75564081	G	A	75564081	2	1	139	1	0	0	0	0	0	0	0	1	3430	962	34	2		2	CHST5	16	75564081	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	73401203	75564081	14790672	43	33723											
IL17C	27189	broad.mit.edu	37	chr16	88706390	88706390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctcccgcgacggctcGgggctccccacacctggggc	13	20	0	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:88706390G>A	ENST00000244241.4	+	3	553	c.504G>A	c.(502-504)tcG>tcA	p.S168S		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	168					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCGACGGCTCGGGGCTCCCCA	0.716													False	0	True	16:88706390	0	A	88706390	G	A	88706390	2	1	139	1	0	0	0	0	0	0	0	1	7686	1103	39	1		1	IL17C	16	88706390	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	13142309	88706390	1648363	44	33724											
ITGAE	3682	broad.mit.edu	37	chr17	3664359	3664361	+	In_Frame_Del	DEL	CTT	CTT	-													tccttgtcttcctcctcctcCttctccagagcccggcgctg					rs140947594	byFrequency	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:3664359_3664361delCTT	ENST00000263087.4	-	6	642_644	c.544_546delAAG	c.(544-546)aagdel	p.K182del		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	182	Glu-rich (acidic).|X-domain (extra domain).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		cctcctcctccttctccAGAGCC	0.567													False	1	True	17:3664359	0	-	3664361	CTT	-	3664359	7	5	139	1	0	1	0	1	0	0	0	0	7935	680	24	0	3097	0	ITGAE	17	3664359	In_Frame_Del	DEL	CTT	TCGA-XD-AAUI-01A-42D-A40W-08		3664359	77530851	45	33725											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			False	0	False	17:7577538	0	T	7577538	C	T	7577538	3	4	139	1	0	0	0	0	1	0	0	0	16464	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	3913179	7577538	73617672	46	33726											
DNAH9	1770	broad.mit.edu	37	chr17	11725368	11725368	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttatagatcggatccggCgacagctgaaggtaaagagc	12	8	1	3			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:11725368C>T	ENST00000262442.4	+	46	8907	c.8839C>T	c.(8839-8841)Cga>Tga	p.R2947*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R2947*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCGGATCCGGCGACAGCTGAA	0.463													False	0	False	17:11725368	0	T	11725368	C	T	11725368	4	4	139	1	0	0	0	0	0	1	0	0	4638	760	27	1	9021	1	DNAH9	17	11725368	Nonsense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	4147830	11725368	69469842	47	33727											
LRRC37B	114659	broad.mit.edu	37	chr17	30374829	30374829	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgttcatgaagatgttAcaagcccggaagcagcacat	12	9	1	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:30374829A>G	ENST00000327564.7	+	9	2434	c.2373A>G	c.(2371-2373)ttA>ttG	p.L791L	LRRC37B_ENST00000394713.3_Silent_p.L713L|LRRC37B_ENST00000341671.7_Silent_p.L764L|LRRC37B_ENST00000543378.2_Silent_p.L682L|LRRC37B_ENST00000584368.1_Silent_p.L725L			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	764						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGAAGATGTTACAAGCCCGGA	0.488													False	0	False	17:30374829	0	G	30374829	A	G	30374829	2	3	139	1	0	0	0	0	0	0	0	1	9056	388	14	4		4	LRRC37B	17	30374829	Silent	SNP	A	TCGA-XD-AAUI-01A-42D-A40W-08	18649461	30374829	50820381	48	33728											
CASC3	22794	broad.mit.edu	37	chr17	38320039	38320039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtgagggatccatctcCagaagcagatgctccagtgc	11	11	2	3			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:38320039C>T	ENST00000264645.7	+	7	1317	c.1091C>T	c.(1090-1092)cCa>cTa	p.P364L		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	364					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GATCCATCTCCAGAAGCAGAT	0.587													False	0	False	17:38320039	0	T	38320039	C	T	38320039	3	4	139	1	0	0	0	0	1	0	0	0	2681	594	21	2	1117	2	CASC3	17	38320039	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	7945210	38320039	42875171	49	33729											
DHX58	79132	broad.mit.edu	37	chr17	40260081	40260081	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaggcatctccaggtggtCatggatttggtccatgagct	12	10	3	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:40260081C>A	ENST00000251642.3	-	7	946	c.724G>T	c.(724-726)Gac>Tac	p.D242Y		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	242					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCAGGTGGTCATGGATTTGG	0.557													False	0	False	17:40260081	0	A	40260081	C	A	40260081	3	1	139	1	0	0	0	0	1	0	0	0	4544	826	29	3	1344	3	DHX58	17	40260081	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	1940042	40260081	40935129	50	33730											
CDC27	996	broad.mit.edu	37	chr17	45214725	45214726	+	Splice_Site	INS	-	-	GCTCTGGAGGATTTTTAT													gttccctgcagcacaccaggINSccttaaaaaaatgggaacaa							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:45214725_45214726insGCTCTGGAGGATTTTTAT	ENST00000066544.3	-	14	1798_1799	c.1705_1706insATAAAAATCCTCCAGAGC	c.(1705-1707)gcc>gATAAAAATCCTCCAGAGCcc	p.569_569A>DKNPPEP	CDC27_ENST00000527547.1_Splice_Site_p.568_568A>DKNPPEP|CDC27_ENST00000446365.2_Splice_Site_p.508_508A>DKNPPEP|CDC27_ENST00000531206.1_Splice_Site_p.575_575A>DKNPPEP	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	569					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGCACACCAGGCCTTAAAAAAA	0.351													False	0	False	17:45214725	0	GCTCTGGAGGATTTTTAT	45214726	-	GCTCTGGAGGATTTTTAT	45214725	8	5	139	1	0	1	1	0	0	0	1	0	3089	1217	42	0	792	0	CDC27	17	45214725	Splice_Site	INS	-	TCGA-XD-AAUI-01A-42D-A40W-08	4954644	45214725	35980485	51	33731											
BPTF	2186	broad.mit.edu	37	chr17	65925454	65925454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcatctttttttaaggcGttgttcaagtacagcagaaa	8	7	3	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:65925454G>A	ENST00000321892.4	+	19	6440	c.6379G>A	c.(6379-6381)Gtt>Att	p.V2127I	BPTF_ENST00000306378.6_Missense_Mutation_p.V2001I|BPTF_ENST00000424123.3_Missense_Mutation_p.V1988I|BPTF_ENST00000335221.5_Missense_Mutation_p.V2127I			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2127					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTTAAGGCGTTGTTCAAGT	0.433													False	0	False	17:65925454	0	A	65925454	G	A	65925454	3	1	139	1	0	0	0	0	1	0	0	0	1502	1145	40	1	6453	1	BPTF	17	65925454	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	20710729	65925454	15269756	52	33732											
ABCA9	10350	broad.mit.edu	37	chr17	66979885	66979885	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgggggaaaagcctcagGatctctgcatggaggggctc	16	10	2	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:66979885G>A	ENST00000340001.4	-	36	4816	c.4605C>T	c.(4603-4605)atC>atT	p.I1535I	ABCA9_ENST00000453985.2_Silent_p.I1497I|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1535					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAGCCTCAGGATCTCTGCAT	0.463													False	0	False	17:66979885	0	A	66979885	G	A	66979885	2	1	139	1	0	0	0	0	0	0	0	1	39	1164	41	2		2	ABCA9	17	66979885	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	1054431	66979885	14215325	53	33733											
ABCA9	10350	broad.mit.edu	37	chr17	66979974	66979974	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatttgcttttcaggtgttGgatggaaccaatacatctga	9	6	2	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:66979974G>A	ENST00000340001.4	-	36	4727	c.4516C>T	c.(4516-4518)Caa>Taa	p.Q1506*	ABCA9_ENST00000453985.2_Nonsense_Mutation_p.Q1468*|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1506	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCAGGTGTTGGATGGAACCA	0.448													False	0	True	17:66979974	0	A	66979974	G	A	66979974	4	1	139	1	0	0	0	0	0	1	0	0	39	1357	47	2	374	2	ABCA9	17	66979974	Nonsense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	89	66979974	14215236	54	33734											
DSC1	1823	broad.mit.edu	37	chr18	28710559	28710559	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagtccctcttcttcctgcCgatcgctgcagcaacctact	6	18	2	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr18:28710559C>G	ENST00000257198.5	-	16	2864	c.2603G>C	c.(2602-2604)cGg>cCg	p.R868P	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	868					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTCTTCCTGCCGATCGCTGCA	0.438													False	0	False	18:28710559	0	G	28710559	C	G	28710559	3	3	139	1	0	0	0	0	1	0	0	0	4795	652	23	5	85	5	DSC1	18	28710559	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08		28710559	49366689	55	33735											
LRRC8E	80131	broad.mit.edu	37	chr19	7965572	7965572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagagctcttcttctgccGcaagctgcggacgttgcttc	11	13	3	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:7965572G>A	ENST00000306708.6	+	3	2266	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	722						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TTCTTCTGCCGCAAGCTGCGG	0.657													False	0	False	19:7965572	0	A	7965572	G	A	7965572	3	1	139	1	0	0	0	0	1	0	0	0	9087	1087	38	1	2171	1	LRRC8E	19	7965572	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		7965572	51163411	56	33736											
C19orf57	79173	broad.mit.edu	37	chr19	14006193	14006193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccacctacctggagacGgcctttcctggttcctcccc	9	17	0	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:14006193G>A	ENST00000454313.1	-	3	256	c.198C>T	c.(196-198)gcC>gcT	p.A66A	C19orf57_ENST00000586783.1_Silent_p.A66A|C19orf57_ENST00000346736.2_Silent_p.A66A|C19orf57_ENST00000591586.1_Silent_p.A66A			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	66					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACCTGGAGACGGCCTTTCCTG	0.562													False	0	False	19:14006193	0	A	14006193	G	A	14006193	2	1	139	1	0	0	0	0	0	0	0	1	1954	1103	39	1		1	C19orf57	19	14006193	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	6040621	14006193	45122790	57	33737											
LSR	51599	broad.mit.edu	37	chr19	35753531	35753531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtgccagtgctgcccGcacacttgctgctgctacgt	12	14	0	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:35753531G>A	ENST00000602122.1	+	4	1288	c.801G>A	c.(799-801)ccG>ccA	p.P267P	LSR_ENST00000354900.3_Silent_p.P267P|LSR_ENST00000347609.4_Silent_p.P249P|LSR_ENST00000361790.3_Silent_p.P286P|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron|LSR_ENST00000427250.1_Intron			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	286					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGTGCTGCCCGCACACTTGCT	0.622													False	0	True	19:35753531	0	A	35753531	G	A	35753531	2	1	139	1	0	0	0	0	0	0	0	1	9126	1074	38	1		1	LSR	19	35753531	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	21747338	35753531	23375452	58	33738											
RRAS	6237	broad.mit.edu	37	chr19	50140130	50140130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaagccgtggccagcacGcatgtactgctctctcatgg	12	13	2	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:50140130G>A	ENST00000246792.3	-	3	397	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	99					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		TGGCCAGCACGCATGTACTGC	0.662													False	0	False	19:50140130	0	A	50140130	G	A	50140130	3	1	139	1	0	0	0	0	1	0	0	0	13755	1087	38	1	377	1	RRAS	19	50140130	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	14386599	50140130	8988853	59	33739											
USP29	0	broad.mit.edu	37	chr19	57641566	57641566	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taggctctccagggtccttaTcattcatctgaaacgctata	7	11	4	1	rs145552693		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:57641566T>A	ENST00000254181.4	+	4	1977	c.1523T>A	c.(1522-1524)aTc>aAc	p.I508N	USP29_ENST00000598197.1_Missense_Mutation_p.I508N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	508					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGGTCCTTATCATTCATCTG	0.368													False	0	True	19:57641566	0	A	57641566	T	A	57641566	3	1	139	1	0	0	0	0	1	0	0	0	17143	1435	50	5	1525	5	USP29	19	57641566	Missense_Mutation	SNP	T	TCGA-XD-AAUI-01A-42D-A40W-08	7501436	57641566	1487417	60	33740											
STK4	6789	broad.mit.edu	37	chr20	43623799	43623801	+	In_Frame_Del	DEL	AAT	AAT	-													gctccagaagtgattcaggaAattggatacaactgtgtagc							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	AAT	AAT	-	-	AAT	AAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr20:43623799_43623801delAAT	ENST00000372806.3	+	6	689_691	c.594_596delAAT	c.(592-597)gaaatt>gat	p.198_199EI>D	STK4_ENST00000372801.1_In_Frame_Del_p.198_199EI>D|STK4_ENST00000396731.4_In_Frame_Del_p.198_199EI>D|STK4_ENST00000499879.2_In_Frame_Del_p.143_144EI>D	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	198	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TGATTCAGGAAATTGGATACAAC	0.448													False	1	True	20:43623799	0	-	43623801	AAT	-	43623799	7	5	139	1	0	1	0	1	0	0	0	0	15388	11	1	0	616	0	STK4	20	43623799	In_Frame_Del	DEL	AAT	TCGA-XD-AAUI-01A-42D-A40W-08		43623799	19401721	61	33741											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654596	31654596	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agataaatagctcagtggtcGgcagctcgtaggcctgtagc	13	9	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr21:31654596G>A	ENST00000340345.4	-	1	680	c.655C>T	c.(655-657)Cga>Tga	p.R219*		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	219	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CTCAGTGGTCGGCAGCTCGTA	0.443													False	0	False	21:31654596	0	A	31654596	G	A	31654596	4	1	139	1	0	0	0	0	0	1	0	0	8593	1124	39	1	113	1	KRTAP24-1	21	31654596	Nonsense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		31654596	16475299	62	33742											
FRMPD4	9758	broad.mit.edu	37	chrX	12704277	12704277	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaagtctatctggaaaAtgggcagaccaaatcatttc	8	7	3	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:12704277A>G	ENST00000380682.1	+	7	1141	c.635A>G	c.(634-636)aAt>aGt	p.N212S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	212	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TATCTGGAAAATGGGCAGACC	0.398													False	0	True	X:12704277	0	G	12704277	A	G	12704277	3	3	139	1	0	0	0	0	1	0	0	0	6101	101	4	4	661	4	FRMPD4	23	12704277	Missense_Mutation	SNP	A	TCGA-XD-AAUI-01A-42D-A40W-08		12704277	142566283	63	33743											
USP9X	8239	broad.mit.edu	37	chrX	41029282	41029282	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacacctctcttttgtagttCgatttccaaaccagggcaga	7	11	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:41029282C>T	ENST00000324545.8	+	19	3304	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.R891*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTTGTAGTTCGATTTCCAAA	0.408													False	0	False	X:41029282	0	T	41029282	C	T	41029282	4	4	139	1	0	0	0	0	0	1	0	0	17174	876	31	1	2741	1	USP9X	23	41029282	Nonsense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	28325005	41029282	114241278	64	33744											
CYSLTR1	0	broad.mit.edu	37	chrX	77528527	77528527	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaactgactaaaaaggcagcGgtcacgaccatgatcattcc	8	11	2	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:77528527G>T	ENST00000373304.3	-	3	1009	c.717C>A	c.(715-717)acC>acA	p.T239T		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	239					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAAAGGCAGCGGTCACGACCA	0.338													False	0	False	X:77528527	0	T	77528527	G	T	77528527	2	4	139	1	0	0	0	0	0	0	0	1	4226	1103	39	3		3	CYSLTR1	23	77528527	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	36499245	77528527	77742033	65	33745											
PCDH19	57526	broad.mit.edu	37	chrX	99551638	99551638	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctttcagggtaggcctctcCtcagccgggtggtcgctgac	13	14	3	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:99551638C>G	ENST00000373034.4	-	6	4759	c.3084G>C	c.(3082-3084)gaG>gaC	p.E1028D	PCDH19_ENST00000255531.7_Missense_Mutation_p.E981D|PCDH19_ENST00000420881.2_Missense_Mutation_p.E980D	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1028					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TAGGCCTCTCCTCAGCCGGGT	0.577													False	0	False	X:99551638	0	G	99551638	C	G	99551638	3	3	139	1	0	0	0	0	1	0	0	0	11582	680	24	5	366	5	PCDH19	23	99551638	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	22023111	99551638	55718922	66	33746											
NRK	203447	broad.mit.edu	37	chrX	105150491	105150491	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaaacatgcttcaacaCccatttgttcgggatataaa	6	10	2	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:105150491C>G	ENST00000428173.2	+	11	1233	c.930C>G	c.(928-930)caC>caG	p.H310Q	NRK_ENST00000243300.9_Missense_Mutation_p.H310Q			Q7Z2Y5	NRK_HUMAN	Nik related kinase	310	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGCTTCAACACCCATTTGTTC	0.343										HNSCC(51;0.14)			False	0	True	X:105150491	0	G	105150491	C	G	105150491	3	3	139	1	0	0	0	0	1	0	0	0	10723	506	18	5	972	5	NRK	23	105150491	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	5598853	105150491	50120069	67	33747											
MORC4	79710	broad.mit.edu	37	chrX	106229348	106229348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggcgtcctttcctagccGcatggagcctgacttgaaac	11	12	0	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:106229348G>A	ENST00000355610.4	-	4	665	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	MORC4_ENST00000255495.7_Missense_Mutation_p.R131W|MORC4_ENST00000535534.1_Intron	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	131							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TTTCCTAGCCGCATGGAGCCT	0.473													False	0	False	X:106229348	0	A	106229348	G	A	106229348	3	1	139	1	0	0	0	0	1	0	0	0	9771	1086	38	1	2478	1	MORC4	23	106229348	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	1078857	106229348	49041212	68	33748											
F8	2157	broad.mit.edu	37	chrX	154134766	154134766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttcatttagttctccacGgtataagggctgagtaaagg	11	6	2	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:154134766G>A	ENST00000360256.4	-	15	5502	c.5302C>T	c.(5302-5304)Cgt>Tgt	p.R1768C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1768	F5/8 type A 3.|Plastocyanin-like 5.		R -> H (in HEMA).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTTCTCCACGGTATAAGGGC	0.423													False	0	False	X:154134766	0	A	154134766	G	A	154134766	3	1	139	1	0	0	0	0	1	0	0	0	5383	1116	39	1	1829	1	F8	23	154134766	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	47905418	154134766	1135794	69	33749											
TMLHE	55217	broad.mit.edu	37	chrX	154741370	154741370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataggtagtgtcagtgtgcCgatccagagctagcttggtg	14	7	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:154741370C>T	ENST00000334398.3	-	5	867	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	TMLHE_ENST00000369439.4_Missense_Mutation_p.R241Q|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	241					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTCAGTGTGCCGATCCAGAGC	0.413													False	0	False	X:154741370	0	T	154741370	C	T	154741370	3	4	139	1	0	0	0	0	1	0	0	0	16314	652	23	1	699	1	TMLHE	23	154741370	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	606604	154741370	529190	70	33750											
PRDM16	63976	broad.mit.edu	37	chr1	3334494	3334495	+	Frame_Shift_Ins	INS	-	-	TC													cccccaccaccccttcaactINStccggtccccacccccaacg							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:3334494_3334495insTC	ENST00000270722.5	+	11	2843_2844	c.2794_2795insTC	c.(2794-2796)ttcfs	p.F932fs	PRDM16_ENST00000442529.2_Frame_Shift_Ins_p.F931fs|PRDM16_ENST00000514189.1_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000378391.2_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000378398.3_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Frame_Shift_Ins_p.F931fs|PRDM16_ENST00000511072.1_Frame_Shift_Ins_p.F933fs			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	932	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCCTTCAACTTCCGGTCCCCA	0.639			T	EVI1	"MDS, AML"								False	1	False	1:3334494	0	TC	3334495	-	TC	3334494	7	5	140	1	0	1	1	0	0	0	0	0	12533	1609	56	0	2836	0	PRDM16	1	3334494	Frame_Shift_Ins	INS	-	TCGA-XD-AAUL-01A-21D-A397-08		3334494	245916127	1	33751											
GPATCH3	63906	broad.mit.edu	37	chr1	27220874	27220874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgcagcgcttcatgccGttcccattcctcaccccggt	7	18	3	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:27220874G>A	ENST00000361720.5	-	3	927	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	302	Glu-rich.					intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GCTTCATGCCGTTCCCATTCC	0.602													False	0	False	1:27220874	0	A	27220874	G	A	27220874	3	1	140	1	0	0	0	0	1	0	0	0	6638	1144	40	1	693	1	GPATCH3	1	27220874	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	23886380	27220874	222029747	2	33752											
FUBP1	8880	broad.mit.edu	37	chr1	78430650	78430650	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccattttaactccagcccGttcctgttacaatcatagaa	4	12	1	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:78430650G>T	ENST00000370767.1	-	9	727	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	FUBP1_ENST00000370768.2_Silent_p.R214R|FUBP1_ENST00000436586.2_Silent_p.R235R			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	214	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ACTCCAGCCCGTTCCTGTTAC	0.358			"F, N"		oligodendroglioma								False	0	True	1:78430650	0	T	78430650	G	T	78430650	2	4	140	1	0	0	0	0	0	0	0	1	6134	1144	40	3		3	FUBP1	1	78430650	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	51209776	78430650	170819971	3	33753											
COL24A1	255631	broad.mit.edu	37	chr1	86590618	86590618	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taataataatcataaagctcAgtttcatagctattttcgat	4	6	3	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:86590618A>C	ENST00000370571.2	-	3	1767	c.1401T>G	c.(1399-1401)acT>acG	p.T467T	COL24A1_ENST00000436319.1_Silent_p.T467T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	467					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CATAAAGCTCAGTTTCATAGC	0.373													False	0	False	1:86590618	0	C	86590618	A	C	86590618	2	2	140	1	0	0	0	0	0	0	0	1	3706	175	7	4		4	COL24A1	1	86590618	Silent	SNP	A	TCGA-XD-AAUL-01A-21D-A397-08	8159968	86590618	162660003	4	33754											
FNDC7	163479	broad.mit.edu	37	chr1	109270590	109270590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctgcgtgcaccctttcGgctctagagtgtgacaccaa	9	14	1	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:109270590G>A	ENST00000370017.3	+	7	1549	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	FNDC7_ENST00000271311.2_Silent_p.S425S	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	425	Fibronectin type-III 5.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GCACCCTTTCGGCTCTAGAGT	0.483													False	0	False	1:109270590	0	A	109270590	G	A	109270590	2	1	140	1	0	0	0	0	0	0	0	1	6013	1103	39	1		1	FNDC7	1	109270590	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	22679972	109270590	139980031	5	33755											
SHC1	6464	broad.mit.edu	37	chr1	154940985	154940985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacctgtttgcagtctgCggccatgaggttgaggctgc	13	11	1	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:154940985C>T	ENST00000448116.2	-	4	956	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368445.5_Missense_Mutation_p.A246T	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	246	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCAGTCTGCGGCCATGAGG	0.552													False	0	False	1:154940985	0	T	154940985	C	T	154940985	3	4	140	1	0	0	0	0	1	0	0	0	14351	768	27	1	1054	1	SHC1	1	154940985	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	45670395	154940985	94309636	6	33756											
RXRG	6258	broad.mit.edu	37	chr1	165376097	165376097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtaggcctcaagggtgGcataaaccttctctcgcaga	12	10	2	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:165376097G>A	ENST00000359842.5	-	9	1498	c.1196C>T	c.(1195-1197)gCc>gTc	p.A399V		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	399	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CTCAAGGGTGGCATAAACCTT	0.522													False	0	False	1:165376097	0	A	165376097	G	A	165376097	3	1	140	1	0	0	0	0	1	0	0	0	13844	1203	42	2	203	2	RXRG	1	165376097	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	10435112	165376097	83874524	7	33757											
PTPN14	5784	broad.mit.edu	37	chr1	214557484	214557484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtggcaggtcgtggccGtgggtaggggggcggtggcc	24	8	0	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:214557484G>A	ENST00000366956.5	-	13	1908	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	572	Poly-Pro.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGTCGTGGCCGTGGGTAGGGG	0.652													False	0	False	1:214557484	0	A	214557484	G	A	214557484	3	1	140	1	0	0	0	0	1	0	0	0	12860	1144	40	1	1877	1	PTPN14	1	214557484	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	49181387	214557484	34693137	8	33758											
TAF5L	27097	broad.mit.edu	37	chr1	229730353	229730353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcaaccgctggtcctcGccagcagacgccaagtactt	9	15	1	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:229730353G>A	ENST00000258281.2	-	5	1626	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	TAF5L_ENST00000366676.1_Silent_p.G487G	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	487					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTGGTCCTCGCCAGCAGACG	0.577													False	0	False	1:229730353	0	A	229730353	G	A	229730353	2	1	140	1	0	0	0	0	0	0	0	1	15611	1074	38	1		1	TAF5L	1	229730353	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	15172869	229730353	19520268	9	33759											
OR2C3	81472	broad.mit.edu	37	chr1	247695055	247695055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatgaagatgatgctcccGtaaaacagagacaccacagc	8	11	0	4			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:247695055G>A	ENST00000366487.3	-	2	1120	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGATGCTCCCGTAAAACAGAG	0.547													False	0	True	1:247695055	0	A	247695055	G	A	247695055	2	1	140	1	0	0	0	0	0	0	0	1	11061	1140	40	1		1	OR2C3	1	247695055	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	17964702	247695055	1555566	10	33760											
DNMT3A	1788	broad.mit.edu	37	chr2	25505406	25505406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcagctgcaccctctcCctctgctggggccccgccct	10	20	3	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:25505406C>T	ENST00000264709.3	-	4	689	c.352G>A	c.(352-354)Gga>Aga	p.G118R	DNMT3A_ENST00000406659.3_Missense_Mutation_p.G118R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.G118R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	118					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCCTCTCCCTCTGCTGGG	0.657			"Mis, F, N, S"		AML								False	0	True	2:25505406	0	T	25505406	C	T	25505406	3	4	140	1	0	0	0	0	1	0	0	0	4706	632	22	2	2599	2	DNMT3A	2	25505406	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		25505406	217693967	11	33761											
DYSF	8291	broad.mit.edu	37	chr2	71906211	71906211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagctcgatctcaaccGcatgcccaagccagccaaga	8	17	1	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:71906211G>A	ENST00000258104.3	+	52	6069	c.5792G>A	c.(5791-5793)cGc>cAc	p.R1931H	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1931						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATCTCAACCGCATGCCCAAG	0.547													False	0	False	2:71906211	0	A	71906211	G	A	71906211	3	1	140	1	0	0	0	0	1	0	0	0	4889	1087	38	1	6257	1	DYSF	2	71906211	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	46400805	71906211	171293162	12	33762											
SNRNP200	23020	broad.mit.edu	37	chr2	96969044	96969044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcttgttgatgtcatgCcggtcctcatcacgctttct	7	12	6	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:96969044C>T	ENST00000323853.5	-	3	311	c.234G>A	c.(232-234)cgG>cgA	p.R78R	SNRNP200_ENST00000349783.5_Silent_p.R78R	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	78						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGATGTCATGCCGGTCCTCAT	0.498													False	0	False	2:96969044	0	T	96969044	C	T	96969044	2	4	140	1	0	0	0	0	0	0	0	1	14932	726	26	2		2	SNRNP200	2	96969044	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	25062833	96969044	146230329	13	33763											
TTN	7273	broad.mit.edu	37	chr2	179585746	179585746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcactagcttcattgatcGtaagcaatgccacagaatta	7	10	1	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:179585746G>A	ENST00000589042.1	-	79	23224	c.23000C>T	c.(22999-23001)aCg>aTg	p.T7667M	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T6423M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T7350M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7350							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATTGATCGTAAGCAATGC	0.453													False	0	False	2:179585746	0	A	179585746	G	A	179585746	3	1	140	1	0	0	0	0	1	0	0	0	16819	1145	40	1	81665	1	TTN	2	179585746	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	82616702	179585746	63613627	14	33764											
SGOL2	151246	broad.mit.edu	37	chr2	201437658	201437658	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtcacaaatgaatttcaAacagttgatcttctcatcaa	4	9	5	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:201437658A>G	ENST00000357799.4	+	7	2687	c.2589A>G	c.(2587-2589)caA>caG	p.Q863Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	863					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.Q863H(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATGAATTTCAAACAGTTGATC	0.318													False	0	True	2:201437658	0	G	201437658	A	G	201437658	2	3	140	1	0	0	0	0	0	0	0	1	14298	11	1	4		4	SGOL2	2	201437658	Silent	SNP	A	TCGA-XD-AAUL-01A-21D-A397-08	21851912	201437658	41761715	15	33765											
MAP2	4133	broad.mit.edu	37	chr2	210560818	210560818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagtcagggtcccacagCgtgcgttttgcagccctaga	15	11	1	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:210560818C>T	ENST00000360351.4	+	7	4430	c.3924C>T	c.(3922-3924)agC>agT	p.S1308S	MAP2_ENST00000447185.1_Silent_p.S1304S|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1308					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGTCCCACAGCGTGCGTTTTG	0.507													False	0	True	2:210560818	0	T	210560818	C	T	210560818	2	4	140	1	0	0	0	0	0	0	0	1	9302	767	27	1		1	MAP2	2	210560818	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	9123160	210560818	32638555	16	33766											
USP37	57695	broad.mit.edu	37	chr2	219321859	219321859	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactgacaacactgatgagcCggtacgaatgaggcagattt	12	8	0	5			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:219321859C>A	ENST00000258399.3	-	24	3081	c.2669G>T	c.(2668-2670)cGg>cTg	p.R890L	USP37_ENST00000415516.1_Missense_Mutation_p.R796L|USP37_ENST00000454775.1_Missense_Mutation_p.R890L|USP37_ENST00000418019.1_Missense_Mutation_p.R890L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	890					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACTGATGAGCCGGTACGAATG	0.353													False	0	False	2:219321859	0	A	219321859	C	A	219321859	3	1	140	1	0	0	0	0	1	0	0	0	17152	652	23	3	282	3	USP37	2	219321859	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	8761041	219321859	23877514	17	33767											
TRIP12	9320	broad.mit.edu	37	chr2	230724186	230724186	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcttcactcctcgagaaTtgtctttcttaggcacctgc	8	13	3	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:230724186T>G	ENST00000283943.5	-	3	381	c.203A>C	c.(202-204)aAt>aCt	p.N68T	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.N110T|TRIP12_ENST00000389044.4_Missense_Mutation_p.N110T|TRIP12_ENST00000409677.1_Missense_Mutation_p.N110T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	68					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCCTCGAGAATTGTCTTTCTT	0.463													False	0	False	2:230724186	0	G	230724186	T	G	230724186	3	3	140	1	0	0	0	0	1	0	0	0	16639	1493	52	4	5931	4	TRIP12	2	230724186	Missense_Mutation	SNP	T	TCGA-XD-AAUL-01A-21D-A397-08	11402327	230724186	12475187	18	33768											
CNTN4	152330	broad.mit.edu	37	chr3	3078896	3078896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggaagacattcacagCgaccgtggtgggtttgaacc	14	8	1	3	rs151038163		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:3078896C>T	ENST00000397461.1	+	17	2360	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CNTN4_ENST00000418658.1_Missense_Mutation_p.A659V|CNTN4_ENST00000397459.2_Missense_Mutation_p.A331V|CNTN4_ENST00000427331.1_Missense_Mutation_p.A659V|CNTN4_ENST00000448906.2_Missense_Mutation_p.A331V|CNTN4_ENST00000358480.3_Missense_Mutation_p.A440V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	659	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACATTCACAGCGACCGTGGTG	0.498													False	0	False	3:3078896	0	T	3078896	C	T	3078896	3	4	140	1	0	0	0	0	1	0	0	0	3666	768	27	1	2034	1	CNTN4	3	3078896	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		3078896	194943534	19	33769											
SETD5	55209	broad.mit.edu	37	chr3	9490247	9490247	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acactacattcgctttggctCaccctttatccctgagagac	6	14	1	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:9490247C>A	ENST00000402466.1	+	17	2753	c.1985C>A	c.(1984-1986)tCa>tAa	p.S662*	SETD5_ENST00000406341.1_Nonsense_Mutation_p.S760*|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Nonsense_Mutation_p.S779*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.S662*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.S760*			Q9C0A6	SETD5_HUMAN	SET domain containing 5	760										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CGCTTTGGCTCACCCTTTATC	0.483													False	0	False	3:9490247	0	A	9490247	C	A	9490247	4	1	140	1	0	0	0	0	0	1	0	0	14215	838	29	3	2333	3	SETD5	3	9490247	Nonsense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	6411351	9490247	188532183	20	33770											
TGM4	7047	broad.mit.edu	37	chr3	44943132	44943132	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctgcagcagtactacaaCacgaagcaggctgtgtgctt	10	11	0	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:44943132C>A	ENST00000296125.4	+	7	842	c.774C>A	c.(772-774)aaC>aaA	p.N258K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	258					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGTACTACAACACGAAGCAGG	0.597													False	0	False	3:44943132	0	A	44943132	C	A	44943132	3	1	140	1	0	0	0	0	1	0	0	0	15914	477	17	3	800	3	TGM4	3	44943132	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	35452885	44943132	153079298	21	33771											
ACTR8	93973	broad.mit.edu	37	chr3	53906488	53906488	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgccctgagatctgtgctGcaaagtcgtcattttctgtc	9	11	3	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:53906488G>A	ENST00000335754.3	-	10	1325	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	ACTR8_ENST00000231909.7_Nonsense_Mutation_p.Q114*|ACTR8_ENST00000482349.1_Nonsense_Mutation_p.Q298*	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	409					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GATCTGTGCTGCAAAGTCGTC	0.463													False	0	False	3:53906488	0	A	53906488	G	A	53906488	4	1	140	1	0	0	0	0	0	1	0	0	217	1328	46	2	665	2	ACTR8	3	53906488	Nonsense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	8963356	53906488	144115942	22	33772											
PDZRN3	23024	broad.mit.edu	37	chr3	73438995	73438995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggtctccttctcggatgCgcccatccttggctgcaatg	11	14	2	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:73438995C>T	ENST00000263666.4	-	7	1502	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	463	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCTCGGATGCGCCCATCCTT	0.468													False	0	False	3:73438995	0	T	73438995	C	T	73438995	3	4	140	1	0	0	0	0	1	0	0	0	11777	768	27	1	1828	1	PDZRN3	3	73438995	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	19532507	73438995	124583435	23	33773											
COL6A5	256076	broad.mit.edu	37	chr3	130189737	130189737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcaacaaatatcccacCgaagatatgaaagccacatg	6	12	1	2	rs145645992	by1000genomes	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:130189737C>T	ENST00000265379.6	+	39	7994	c.7500C>T	c.(7498-7500)acC>acT	p.T2500T	COL6A5_ENST00000432398.2_Silent_p.T2500T			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2500	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AATATCCCACCGAAGATATGA	0.433													False	0	False	3:130189737	0	T	130189737	C	T	130189737	2	4	140	1	0	0	0	0	0	0	0	1	3725	639	23	1		1	COL6A5	3	130189737	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	56750742	130189737	67832693	24	33774											
TRIM42	287015	broad.mit.edu	37	chr3	140397090	140397090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggaaactgctatgtgcGtttgctgtccatgttgtaca	10	9	0	0	rs116143762	by1000genomes	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:140397090G>A	ENST00000286349.3	+	1	210	c.19G>A	c.(19-21)Gtt>Att	p.V7I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	7	Cys-rich.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCTATGTGCGTTTGCTGTCC	0.507													False	0	True	3:140397090	0	A	140397090	G	A	140397090	3	1	140	1	0	0	0	0	1	0	0	0	16600	1145	40	1	21	1	TRIM42	3	140397090	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	10207353	140397090	57625340	25	33775											
P2RY1	5028	broad.mit.edu	37	chr3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaatgacagggtttatgCcacgtatcaggtgacaagag	11	7	2	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478													False	0	False	3:152554482	0	T	152554482	C	T	152554482	3	4	140	1	0	0	0	0	1	0	0	0	11414	739	26	2	913	2	P2RY1	3	152554482	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	12157392	152554482	45467948	26	33776											
BCL6	604	broad.mit.edu	37	chr3	187447157	187447157	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attcttactgctgcaggactCtgtgggcgagttgggctggc	15	9	2	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:187447157C>T	ENST00000406870.2	-	5	1402	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	BCL6_ENST00000450123.2_Missense_Mutation_p.E346K|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.E346K|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	346					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGCAGGACTCTGTGGGCGAG	0.587			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								False	0	False	3:187447157	0	T	187447157	C	T	187447157	3	4	140	1	0	0	0	0	1	0	0	0	1380	922	32	2	1108	2	BCL6	3	187447157	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	34892675	187447157	10575273	27	33777											
ZNF718	255403	broad.mit.edu	37	chr4	155843	155843	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacaaatgtaaagaatgCgggaaagcttttaagcagta	9	7	0	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:155843C>T	ENST00000510175.1	+	0	1278							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GTAAAGAATGCGGGAAAGCTT	0.358													False	0	True	4:155843	0	T	155843	C	T	155843	1	4	140	0	1	0	0	0	0	0	0	0	18203	776	27	1		1	ZNF718	4	155843	RNA	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		155843	190998433	28	33778											
CRIPAK	285464	broad.mit.edu	37	chr4	1388986	1388986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgccgatgcggagtgcccGcctgctcacacgtgccgatg	14	15	1	0	rs71299249		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:1388986G>A	ENST00000324803.4	+	1	3647	c.687G>A	c.(685-687)ccG>ccA	p.P229P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	229					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGGAGTGCCCGCCTGCTCACA	0.672													False	0	True	4:1388986	0	A	1388986	G	A	1388986	2	1	140	1	0	0	0	0	0	0	0	1	3900	1074	38	1		1	CRIPAK	4	1388986	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	1233143	1388986	189765290	29	33779											
SORCS2	57537	broad.mit.edu	37	chr4	7691260	7691260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgggcagacaacccctaCgtatcaggcaccgtgcacac	10	16	1	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:7691260C>T	ENST00000507866.2	+	11	1645	c.1536C>T	c.(1534-1536)taC>taT	p.Y512Y	SORCS2_ENST00000329016.9_Silent_p.Y340Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	512						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACAACCCCTACGTATCAGGCA	0.592													False	0	False	4:7691260	0	T	7691260	C	T	7691260	2	4	140	1	0	0	0	0	0	0	0	1	15011	547	19	1		1	SORCS2	4	7691260	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	6302274	7691260	183463016	30	33780											
STIM2	57620	broad.mit.edu	37	chr4	27019384	27019384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagcagcagcctgtgccGttcacgccgcagcattgtgc	12	14	1	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:27019384G>A	ENST00000382009.3	+	12	2093	c.1826G>A	c.(1825-1827)cGt>cAt	p.R609H	STIM2_ENST00000465503.1_Missense_Mutation_p.R522H|STIM2_ENST00000237364.5_Missense_Mutation_p.R601H|STIM2_ENST00000412829.2_Missense_Mutation_p.R601H|STIM2_ENST00000467087.1_Missense_Mutation_p.R514H|STIM2_ENST00000467011.1_Missense_Mutation_p.R514H	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	514					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	p.R601L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGCCTGTGCCGTTCACGCCGC	0.597													False	0	False	4:27019384	0	A	27019384	G	A	27019384	3	1	140	1	0	0	0	0	1	0	0	0	15366	1145	40	1	1611	1	STIM2	4	27019384	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	19328124	27019384	164134892	31	33781											
PAQR3	152559	broad.mit.edu	37	chr4	79847790	79847790	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcctttgccattgctgcGtgaggtaattgggatgaatc	14	7	0	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:79847790G>T	ENST00000512733.1	-	4	800	c.587C>A	c.(586-588)aCg>aAg	p.T196K	PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.T196K	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	196						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCATTGCTGCGTGAGGTAATT	0.458													False	0	False	4:79847790	0	T	79847790	G	T	79847790	3	4	140	1	0	0	0	0	1	0	0	0	11504	1145	40	3	360	3	PAQR3	4	79847790	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	52828406	79847790	111306486	32	33782											
CDH18	1016	broad.mit.edu	37	chr5	19839078	19839078	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggactggacagatgcaagaTgtgctagtaattttcattgt	11	5	1	2	rs148353712		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr5:19839078T>A	ENST00000507958.1	-	5	1008	c.18A>T	c.(16-18)acA>acT	p.T6T	CDH18_ENST00000274170.4_Silent_p.T6T|CDH18_ENST00000502796.1_Silent_p.T6T|CDH18_ENST00000511273.1_Silent_p.T6T|CDH18_ENST00000382275.1_Silent_p.T6T|CDH18_ENST00000506372.1_Silent_p.T6T			Q13634	CAD18_HUMAN	cadherin 18, type 2	6					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGATGCAAGATGTGCTAGTAA	0.428													False	0	False	5:19839078	0	A	19839078	T	A	19839078	2	1	140	1	0	0	0	0	0	0	0	1	3126	1451	51	5		5	CDH18	5	19839078	Silent	SNP	T	TCGA-XD-AAUL-01A-21D-A397-08		19839078	161076182	33	33783											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26200004	26200004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaacgatatcttcgagcGcatcgctggcgaggcttccc	11	14	2	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:26200004G>A	ENST00000359985.1	+	1	257	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	73					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ATCTTCGAGCGCATCGCTGGC	0.607													False	0	False	6:26200004	0	A	26200004	G	A	26200004	3	1	140	1	0	0	0	0	1	0	0	0	7192	1087	38	1	220	1	HIST1H2BF	6	26200004	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08		26200004	144915063	34	33784											
SCAND3	114821	broad.mit.edu	37	chr6	28543263	28543263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttagactttaatgaccGcaaaaaagttaactttgtac	5	8	0	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:28543263G>A	ENST00000452236.2	-	3	1836	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	407	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTAATGACCGCAAAAAAGTT	0.373													False	0	False	6:28543263	0	A	28543263	G	A	28543263	3	1	140	1	0	0	0	0	1	0	0	0	13956	1086	38	1	2766	1	SCAND3	6	28543263	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	2343259	28543263	142571804	35	33785											
BVES	11149	broad.mit.edu	37	chr6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcataagtttggcccTttttcaaggtttggatcatg	10	8	2	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000336775.5_Missense_Mutation_p.K157R|BVES_ENST00000446408.2_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	p.K157R(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGTTTGGCCCTTTTTCAAGGT	0.438													False	0	True	6:105573335	0	C	105573335	T	C	105573335	3	2	140	1	0	0	0	0	1	0	0	0	1582	1609	56	4	632	4	BVES	6	105573335	Missense_Mutation	SNP	T	TCGA-XD-AAUL-01A-21D-A397-08	77030072	105573335	65541732	36	33786											
CNPY4	245812	broad.mit.edu	37	chr7	99720455	99720455	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggcctagtgcagaaggggGtgaaggtggatctggggatc	19	5	1	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:99720455G>C	ENST00000262932.3	+	4	523	c.391G>C	c.(391-393)Gtg>Ctg	p.V131L	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	131						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGAAGGGGGTGAAGGTGGA	0.557													False	0	True	7:99720455	0	C	99720455	G	C	99720455	3	2	140	1	0	0	0	0	1	0	0	0	3653	1261	44	5	405	5	CNPY4	7	99720455	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08		99720455	59418208	37	33787											
SRRT	51593	broad.mit.edu	37	chr7	100484755	100484755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccaacgaggacgagatgCccaatcgctgtgggatcatc	11	13	1	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:100484755C>T	ENST00000388793.4	+	15	2126	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	SRRT_ENST00000347433.4_Missense_Mutation_p.P637S|SRRT_ENST00000432932.1_Missense_Mutation_p.P636S|SRRT_ENST00000457580.2_Missense_Mutation_p.P637S	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	637					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGACGAGATGCCCAATCGCTG	0.572													False	0	True	7:100484755	0	T	100484755	C	T	100484755	3	4	140	1	0	0	0	0	1	0	0	0	15254	739	26	2	1963	2	SRRT	7	100484755	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	764300	100484755	58653908	38	33788											
CSMD1	64478	broad.mit.edu	37	chr8	3047451	3047451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccacacagctggggatcGtgtcgttccactgtgccaag	11	14	0	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr8:3047451G>A	ENST00000602557.1	-	35	5939	c.5384C>T	c.(5383-5385)aCg>aTg	p.T1795M	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T1795M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000520002.1_Missense_Mutation_p.T1795M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1795	Sushi 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGGGGATCGTGTCGTTCCA	0.592													False	0	False	8:3047451	0	A	3047451	G	A	3047451	3	1	140	1	0	0	0	0	1	0	0	0	3969	1145	40	1	5461	1	CSMD1	8	3047451	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08		3047451	143316571	39	33789											
AQP7	364	broad.mit.edu	37	chr9	33385626	33385626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagaaaaactcaaaggaatGggcctgggcaggggcagtac	14	8	1	1	rs149760238	by1000genomes	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:33385626G>A	ENST00000537089.1	-	6	806	c.488C>T	c.(487-489)cCa>cTa	p.P163L	AQP7_ENST00000541274.1_Silent_p.P123P|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TCAAAGGAATGGGCCTGGGCA	0.622													False	0	True	9:33385626	0	A	33385626	G	A	33385626	3	1	140	1	0	0	0	0	1	0	0	0	833	1363	47	2		2	AQP7	9	33385626	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08		33385626	107827805	40	33790											
VPS13A	23230	broad.mit.edu	37	chr9	80020889	80020889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcatgggagaagattgCgcattgaagcaaaggtatgt	13	4	1	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:80020889C>T	ENST00000360280.3	+	70	9645	c.9385C>T	c.(9385-9387)Cgc>Tgc	p.R3129C	VPS13A_ENST00000376646.3_Missense_Mutation_p.R65C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R3090C|VPS13A_ENST00000484581.2_Missense_Mutation_p.R65C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3129					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGAAGATTGCGCATTGAAGC	0.343													False	0	False	9:80020889	0	T	80020889	C	T	80020889	3	4	140	1	0	0	0	0	1	0	0	0	17273	768	27	1	9791	1	VPS13A	9	80020889	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	46635263	80020889	61192542	41	33791											
MUSK	4593	broad.mit.edu	37	chr9	113431242	113431242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactctggttgccttcagcGgaactgagaaacttccaaaa	8	10	2	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:113431242G>A	ENST00000416899.2	+	1	184	c.58G>A	c.(58-60)Gga>Aga	p.G20R	MUSK_ENST00000374448.4_Missense_Mutation_p.G20R|MUSK_ENST00000189978.5_Missense_Mutation_p.G20R|MUSK_ENST00000374440.3_5'UTR			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	20					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGCCTTCAGCGGAACTGAGAA	0.438													False	0	False	9:113431242	0	A	113431242	G	A	113431242	3	1	140	1	0	0	0	0	1	0	0	0	10056	1117	39	1	60	1	MUSK	9	113431242	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	33410353	113431242	27782189	42	33792											
PLCE1	51196	broad.mit.edu	37	chr10	96018889	96018889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caattgatgaaaacaccagcGatcttcagcctgacctaggt	8	11	2	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:96018889G>A	ENST00000371380.3	+	12	4031	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N	PLCE1_ENST00000260766.3_Missense_Mutation_p.D1266N|PLCE1_ENST00000371375.1_Missense_Mutation_p.D958N|PLCE1_ENST00000371385.3_Missense_Mutation_p.D958N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAACACCAGCGATCTTCAGCC	0.468													False	0	False	10:96018889	0	A	96018889	G	A	96018889	3	1	140	1	0	0	0	0	1	0	0	0	12103	1058	37	1	4128	1	PLCE1	10	96018889	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08		96018889	39515858	43	33793											
ADAM12	8038	broad.mit.edu	37	chr10	127755358	127755358	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaggtggtggcattgcaGcagcgattcatacattcctg	12	9	1	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:127755358G>A	ENST00000368679.4	-	13	1659	c.1350C>T	c.(1348-1350)tgC>tgT	p.C450C	ADAM12_ENST00000368676.4_Silent_p.C450C|ADAM12_ENST00000467145.1_5'UTR	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	450	Disintegrin.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGGCATTGCAGCAGCGATTCA	0.522													False	0	False	10:127755358	0	A	127755358	G	A	127755358	2	1	140	1	0	0	0	0	0	0	0	1	236	963	34	2		2	ADAM12	10	127755358	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	31736469	127755358	7779389	44	33794											
DOCK1	1793	broad.mit.edu	37	chr10	129213435	129213435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatatgtggatcgagagaaCcatatatacaactgcatata	8	6	0	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:129213435C>T	ENST00000280333.6	+	44	4494	c.4385C>T	c.(4384-4386)aCc>aTc	p.T1462I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1462	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATCGAGAGAACCATATATACA	0.448													False	0	False	10:129213435	0	T	129213435	C	T	129213435	3	4	140	1	0	0	0	0	1	0	0	0	4714	507	18	2	4559	2	DOCK1	10	129213435	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	1458077	129213435	6321312	45	33795											
LRRC27	80313	broad.mit.edu	37	chr10	134165170	134165170	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcaccgtaccaaatggCgatccgagcaaaaagactgg	10	11	1	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:134165170C>T	ENST00000392638.2	+	8	1276	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	LRRC27_ENST00000368612.1_Missense_Mutation_p.A267V|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.A329V|LRRC27_ENST00000368610.3_Missense_Mutation_p.A267V|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.R361*|LRRC27_ENST00000368615.3_Missense_Mutation_p.A329V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A202V|LRRC27_ENST00000368614.3_Missense_Mutation_p.A329V			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TACCAAATGGCGATCCGAGCA	0.522													False	0	False	10:134165170	0	T	134165170	C	T	134165170	4	4	140	1	0	0	0	0	0	1	0	0	9043	769	27	1	1107	1	LRRC27	10	134165170	Nonsense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	4951735	134165170	1369577	46	33796											
CTSD	1509	broad.mit.edu	37	chr11	1776217	1776217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaatacttggagtctgtgCcacccagcatcagctcaccc	8	14	3	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:1776217C>T	ENST00000236671.2	-	6	878	c.746G>A	c.(745-747)gGc>gAc	p.G249D	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.A120T	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	249					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAGTCTGTGCCACCCAGCAT	0.602													False	0	False	11:1776217	0	T	1776217	C	T	1776217	3	4	140	1	0	0	0	0	1	0	0	0	4057	739	26	2	508	2	CTSD	11	1776217	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		1776217	133230299	47	33797											
CPT1A	1374	broad.mit.edu	37	chr11	68562300	68562300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctcccggtccagtttgCgcctgtaaagcaggatggca	11	12	0	0	rs144866081		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:68562300C>T	ENST00000265641.5	-	8	1005	c.851G>A	c.(850-852)cGc>cAc	p.R284H	CPT1A_ENST00000540367.1_Missense_Mutation_p.R284H|CPT1A_ENST00000539743.1_Missense_Mutation_p.R284H|CPT1A_ENST00000538994.1_Missense_Mutation_p.R36H|CPT1A_ENST00000376618.2_Missense_Mutation_p.R284H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	284					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GTCCAGTTTGCGCCTGTAAAG	0.433													False	0	False	11:68562300	0	T	68562300	C	T	68562300	3	4	140	1	0	0	0	0	1	0	0	0	3854	768	27	1	1558	1	CPT1A	11	68562300	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	66786083	68562300	66444216	48	33798											
ARHGEF17	9828	broad.mit.edu	37	chr11	73067381	73067381	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggagatagaggctcacatCgagggcatggaggatgtgcg	17	7	1	2	rs113094822		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:73067381C>T	ENST00000263674.3	+	6	4175	c.3825C>T	c.(3823-3825)atC>atT	p.I1275I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1275					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGGCTCACATCGAGGGCATGG	0.647													False	0	False	11:73067381	0	T	73067381	C	T	73067381	2	4	140	1	0	0	0	0	0	0	0	1	902	874	31	1		1	ARHGEF17	11	73067381	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	4505081	73067381	61939135	49	33799											
CHD4	1108	broad.mit.edu	37	chr12	6715504	6715504	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcctcactgcccgcCgagcagggggacggggagcc	14	17	1	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:6715504C>A	ENST00000309577.6	-	2	199	c.36G>T	c.(34-36)tcG>tcT	p.S12S	CHD4_ENST00000357008.2_Silent_p.S12S|CHD4_ENST00000544040.1_Silent_p.S12S|CHD4_ENST00000544484.1_Silent_p.S12S			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	12					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CACTGCCCGCCGAGCAGGGGG	0.672													False	0	False	12:6715504	0	A	6715504	C	A	6715504	2	1	140	1	0	0	0	0	0	0	0	1	3350	639	23	3		3	CHD4	12	6715504	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		6715504	127136391	50	33800											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	140	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	18682781	25398285	108453610	51	33801											
KRT76	51350	broad.mit.edu	37	chr12	53165942	53165942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatctcctcatactgggcgCggacctcggcaatgatgctg	11	13	2	1	rs61730598	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:53165942C>T	ENST00000332411.2	-	5	1126	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	358	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.R358H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATACTGGGCGCGGACCTCGGC	0.587													False	0	False	12:53165942	0	T	53165942	C	T	53165942	3	4	140	1	0	0	0	0	1	0	0	0	8539	768	27	1	863	1	KRT76	12	53165942	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	27767657	53165942	80685953	52	33802											
TRPV4	59341	broad.mit.edu	37	chr12	110234507	110234507	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgccggatgatgtgctgaaaGatctgcacagggggccagga	16	9	1	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:110234507G>T	ENST00000418703.2	-	6	1249	c.1155C>A	c.(1153-1155)atC>atA	p.I385I	TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000392719.2_Silent_p.I338I|TRPV4_ENST00000541794.1_Silent_p.I338I|TRPV4_ENST00000261740.2_Silent_p.I385I|TRPV4_ENST00000536838.1_Silent_p.I351I|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000346520.2_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	385				I -> V (in Ref. 1; AAG28029).	actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGTGCTGAAAGATCTGCACAG	0.612													False	0	True	12:110234507	0	T	110234507	G	T	110234507	2	4	140	1	0	0	0	0	0	0	0	1	16681	932	33	3		3	TRPV4	12	110234507	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	57068565	110234507	23617388	53	33803											
ATP2A2	488	broad.mit.edu	37	chr12	110783101	110783101	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacccggactttgaaggcgtGgattgtgcaatctttgaatc	11	8	1	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:110783101G>C	ENST00000395494.2	+	17	3137	c.2574G>C	c.(2572-2574)gtG>gtC	p.V858V	ATP2A2_ENST00000539276.2_Silent_p.V885V|ATP2A2_ENST00000308664.6_Silent_p.V885V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	885					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TTGAAGGCGTGGATTGTGCAA	0.443													False	0	False	12:110783101	0	C	110783101	G	C	110783101	2	2	140	1	0	0	0	0	0	0	0	1	1141	1335	47	5		5	ATP2A2	12	110783101	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	548594	110783101	23068794	54	33804											
SDS	10993	broad.mit.edu	37	chr12	113831803	113831803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcccccacagtcttcacGcccagggccttggcaacact	9	17	2	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:113831803G>A	ENST00000257549.4	-	7	794	c.672C>T	c.(670-672)ggC>ggT	p.G224G		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	224					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAGTCTTCACGCCCAGGGCCT	0.577													False	0	True	12:113831803	0	A	113831803	G	A	113831803	2	1	140	1	0	0	0	0	0	0	0	1	14056	1074	38	1		1	SDS	12	113831803	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	3048702	113831803	20020092	55	33805											
RNF34	80196	broad.mit.edu	37	chr12	121855430	121855430	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcgccctcagttaatgCgactgaaggtgaaggacctg	12	10	2	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:121855430C>T	ENST00000361234.5	+	3	521	c.349C>T	c.(349-351)Cga>Tga	p.R117*	RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Nonsense_Mutation_p.R117*|RNF34_ENST00000392465.3_Nonsense_Mutation_p.R118*	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	117	SAP 1.				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	p.R118*(1)		breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TCAGTTAATGCGACTGAAGGT	0.428													False	0	False	12:121855430	0	T	121855430	C	T	121855430	4	4	140	1	0	0	0	0	0	1	0	0	13568	760	27	1	372	1	RNF34	12	121855430	Nonsense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	8023627	121855430	11996465	56	33806											
PCDH17	27253	broad.mit.edu	37	chr13	58299162	58299162	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcaagcagtcagtacTtgcccactgacagtcaatat	8	11	2	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr13:58299162T>G	ENST00000377918.3	+	4	3240	c.3214T>G	c.(3214-3216)Ttg>Gtg	p.L1072V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1072					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.L1072V(2)|p.L1072L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGTCAGTACTTGCCCACTGA	0.532													False	0	False	13:58299162	0	G	58299162	T	G	58299162	3	3	140	1	0	0	0	0	1	0	0	0	11580	1606	56	4	3228	4	PCDH17	13	58299162	Missense_Mutation	SNP	T	TCGA-XD-AAUL-01A-21D-A397-08		58299162	56870716	57	33807											
SLC8A3	6547	broad.mit.edu	37	chr14	70634978	70634978	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggatgacaccctccttGcagtccgatgaccctgaaca	10	14	0	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr14:70634978G>T	ENST00000381269.2	-	2	915	c.162C>A	c.(160-162)tgC>tgA	p.C54*	SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.C54*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	54					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CACCCTCCTTGCAGTCCGATG	0.542													False	0	False	14:70634978	0	T	70634978	G	T	70634978	4	4	140	1	0	0	0	0	0	1	0	0	14788	1311	46	3	2760	3	SLC8A3	14	70634978	Nonsense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08		70634978	36714562	58	33808											
GPR176	11245	broad.mit.edu	37	chr15	40093386	40093386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtttctgctcatcttccGctccaccctgcctaccttgg	6	16	3	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:40093386G>A	ENST00000299092.3	-	4	1690	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	GPR176_ENST00000543580.1_Missense_Mutation_p.R454W|GPR176_ENST00000561100.1_Missense_Mutation_p.R499W|RP11-37C7.1_ENST00000558616.1_RNA	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	499					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTCATCTTCCGCTCCACCCTG	0.512													False	0	False	15:40093386	0	A	40093386	G	A	40093386	3	1	140	1	0	0	0	0	1	0	0	0	6719	1086	38	1	56	1	GPR176	15	40093386	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08		40093386	62438006	59	33809											
CATSPER2	117155	broad.mit.edu	37	chr15	43924970	43924970	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaataggaagaggatgtggaGgagacacaggaggaagactg	18	3	0	3	rs140242525		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:43924970G>T	ENST00000396879.1	-	12	1447	c.1335C>A	c.(1333-1335)tcC>tcA	p.S445S	CATSPER2_ENST00000355438.2_Intron|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000321596.5_Silent_p.S447S|CATSPER2_ENST00000354127.4_Silent_p.S445S|CATSPER2_ENST00000381761.1_Silent_p.S451S	NM_001282309.1	NP_001269238.1	Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	447	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		aggatgtggaggagacacagg	0.378													False	0	False	15:43924970	0	T	43924970	G	T	43924970	2	4	140	1	0	0	0	0	0	0	0	1	2708	987	35	3		3	CATSPER2	15	43924970	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	3831584	43924970	58606422	60	33810											
AQP9	366	broad.mit.edu	37	chr15	58476236	58476236	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttggaggcctcatctatgttCttgtcattgaaatccaccat	7	10	4	1	rs76614170	by1000genomes	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:58476236C>G	ENST00000219919.4	+	6	1160	c.790C>G	c.(790-792)Ctt>Gtt	p.L264V	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.L199V|AQP9_ENST00000536493.1_Missense_Mutation_p.L264V	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	264					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CATCTATGTTCTTGTCATTGA	0.433													False	0	False	15:58476236	0	G	58476236	C	G	58476236	3	3	140	1	0	0	0	0	1	0	0	0	835	913	32	5	812	5	AQP9	15	58476236	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	14551266	58476236	44055156	61	33811											
HS3ST4	9951	broad.mit.edu	37	chr16	26147120	26147120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcaaagaaacccgagAtccccacctttgaggtgctg	9	13	1	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:26147120A>G	ENST00000331351.5	+	2	1314	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	308					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAAACCCGAGATCCCCACCTT	0.542													False	0	False	16:26147120	0	G	26147120	A	G	26147120	3	3	140	1	0	0	0	0	1	0	0	0	7414	333	12	4	928	4	HS3ST4	16	26147120	Missense_Mutation	SNP	A	TCGA-XD-AAUL-01A-21D-A397-08		26147120	64207633	62	33812											
CES1	1066	broad.mit.edu	37	chr16	55860205	55860205	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgccttgggatcttgggtgCacctggggagggggaaagaa	18	8	1	1	rs5023782		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:55860205C>A	ENST00000422046.2	-	3	541	c.260G>T	c.(259-261)tGc>tTc	p.C87F	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.C88F|CES1_ENST00000361503.4_Missense_Mutation_p.C87F			P23141	EST1_HUMAN	carboxylesterase 1	87					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.C88Y(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	ATCTTGGGTGCACCTGGGGAG	0.502													False	0	False	16:55860205	0	A	55860205	C	A	55860205	3	1	140	1	0	0	0	0	1	0	0	0	3292	710	25	3	1491	3	CES1	16	55860205	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	29713085	55860205	34494548	63	33813											
COG8	84342	broad.mit.edu	37	chr16	69368489	69368489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacagggcagcagaggcGcagatcattgaaggcaacca	14	11	1	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:69368489G>A	ENST00000306875.4	-	3	1462	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	COG8_ENST00000562081.1_Missense_Mutation_p.R450C|RP11-343C2.12_ENST00000562949.1_Missense_Mutation_p.R96C	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	450					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CAGCAGAGGCGCAGATCATTG	0.592													False	0	False	16:69368489	0	A	69368489	G	A	69368489	3	1	140	1	0	0	0	0	1	0	0	0	3687	1087	38	1	502	1	COG8	16	69368489	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	13508284	69368489	20986264	64	33814											
SLC16A11	162515	broad.mit.edu	37	chr17	6945697	6945697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggccccggtctaaagcGtggggagccaagtgcacgta	14	13	1	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:6945697G>A	ENST00000308009.1	-	3	1141	c.804C>T	c.(802-804)caC>caT	p.H268H	SLC16A11_ENST00000447225.1_Silent_p.H244H	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	268						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GGTCTAAAGCGTGGGGAGCCA	0.672													False	0	False	17:6945697	0	A	6945697	G	A	6945697	2	1	140	1	0	0	0	0	0	0	0	1	14485	1136	40	1		1	SLC16A11	17	6945697	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08		6945697	74249513	65	33815											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	14	13	3	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			False	0	False	17:7578394	0	C	7578394	T	C	7578394	3	2	140	1	0	0	0	0	1	0	0	0	16464	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-XD-AAUL-01A-21D-A397-08	632697	7578394	73616816	66	33816											
MYH3	4621	broad.mit.edu	37	chr17	10555805	10555805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctcattcaggtgcgtcaGcatggccatgtcttcgatcc	11	12	4	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:10555805G>T	ENST00000583535.1	-	4	367	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	MYH3_ENST00000226209.7_Missense_Mutation_p.L94M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	94	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGGTGCGTCAGCATGGCCATG	0.537													False	0	False	17:10555805	0	T	10555805	G	T	10555805	3	4	140	1	0	0	0	0	1	0	0	0	10103	962	34	3	5694	3	MYH3	17	10555805	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	2977411	10555805	70639405	67	33817											
KRT32	3882	broad.mit.edu	37	chr17	39619177	39619177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggtactcctggttctgCcgctccaggtcagcccggat	11	15	2	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:39619177C>T	ENST00000225899.3	-	6	1225	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	374	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCTGGTTCTGCCGCTCCAGGT	0.647													False	0	False	17:39619177	0	T	39619177	C	T	39619177	2	4	140	1	0	0	0	0	0	0	0	1	8518	726	26	2		2	KRT32	17	39619177	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	29063372	39619177	41576033	68	33818											
TNPO2	30000	broad.mit.edu	37	chr19	12826533	12826533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagctcacccttggaagCgatggtggtgatgagaatgc	14	9	1	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:12826533C>T	ENST00000425528.1	-	6	703	c.346G>A	c.(346-348)Gct>Act	p.A116T	TNPO2_ENST00000588216.1_Missense_Mutation_p.A116T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A116T|TNPO2_ENST00000356861.5_Missense_Mutation_p.A116T|TNPO2_ENST00000450764.2_Missense_Mutation_p.A116T|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000592287.1_Missense_Mutation_p.A116T			O14787	TNPO2_HUMAN	transportin 2	116					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCTTGGAAGCGATGGTGGTG	0.632													False	0	False	19:12826533	0	T	12826533	C	T	12826533	3	4	140	1	0	0	0	0	1	0	0	0	16418	768	27	1	2427	1	TNPO2	19	12826533	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		12826533	46302450	69	33819											
ZNF254	9534	broad.mit.edu	37	chr19	24309874	24309874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgaagaatgtggcaaaGcttttagccagtcctcaacc	9	9	1	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:24309874G>T	ENST00000357002.4	+	4	1187	c.1072G>T	c.(1072-1074)Gct>Tct	p.A358S	ZNF254_ENST00000342944.6_Missense_Mutation_p.A273S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	358					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAAGCTTTTAGCCA	0.398													False	0	True	19:24309874	0	T	24309874	G	T	24309874	3	4	140	1	0	0	0	0	1	0	0	0	17881	971	34	3	1086	3	ZNF254	19	24309874	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	11483341	24309874	34819109	70	33820			1	26		2	2	12	G		2.807104e-05
ZNF254	9534	broad.mit.edu	37	chr19	24309885	24309885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcaaagcttttagccaGtcctcaacccttactacaca	6	13	1	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:24309885G>A	ENST00000357002.4	+	4	1198	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_ENST00000342944.6_Silent_p.Q276Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	361					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAGTCCTCAACCC	0.393													False	0	False	19:24309885	0	A	24309885	G	A	24309885	2	1	140	1	0	0	0	0	0	0	0	1	17881	1020	36	2		2	ZNF254	19	24309885	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	11	24309885	34819098	71	33821			1	26		2	2	12	G		2.807104e-05
FCGBP	8857	broad.mit.edu	37	chr19	40368706	40368706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgttaccgcagagcccGcacactgcgccatgatagct	9	15	0	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:40368706G>A	ENST00000221347.6	-	28	12649	c.12642C>T	c.(12640-12642)tgC>tgT	p.C4214C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4214	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCAGAGCCCGCACACTGCGC	0.607													False	0	True	19:40368706	0	A	40368706	G	A	40368706	2	1	140	1	0	0	0	0	0	0	0	1	5818	1079	38	1		1	FCGBP	19	40368706	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	16058821	40368706	18760277	72	33822											
PANK2	80025	broad.mit.edu	37	chr20	3899375	3899375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattaatacgatcgccatgCggcttttggcatatgctttg	10	8	0	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr20:3899375C>T	ENST00000497424.1	+	6	1032	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	PANK2_ENST00000610179.1_Missense_Mutation_p.R409W|PANK2_ENST00000316562.4_Missense_Mutation_p.R532W	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	532	Poly-Glu.				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GATCGCCATGCGGCTTTTGGC	0.388													False	0	False	20:3899375	0	T	3899375	C	T	3899375	3	4	140	1	0	0	0	0	1	0	0	0	11485	759	27	1	1616	1	PANK2	20	3899375	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		3899375	59126145	73	33823											
RIMBP3	85376	broad.mit.edu	37	chr22	20457064	20457064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcaccctctcttcaccCccagagcttgtccttgcctg	8	18	2	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr22:20457064C>T	ENST00000426804.1	-	1	4722	c.4238G>A	c.(4237-4239)gGg>gAg	p.G1413E		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TCTCTTCACCCCCAGAGCTTG	0.632													False	0	True	22:20457064	0	T	20457064	C	T	20457064	3	4	140	1	0	0	0	0	1	0	0	0	13443	623	22	2	685	2	RIMBP3	22	20457064	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		20457064	30847502	74	33824											
TTLL8	164714	broad.mit.edu	37	chr22	50472798	50472798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactcacctcggccccgggActtggccgcgggctttataa	13	14	1	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr22:50472798A>G	ENST00000266182.6	-	9	1014	c.1015T>C	c.(1015-1017)Tcc>Ccc	p.S339P	TTLL8_ENST00000440475.1_Missense_Mutation_p.S323P					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CGGCCCCGGGACTTGGCCGCG	0.607													False	0	True	22:50472798	0	G	50472798	A	G	50472798	3	3	140	1	0	0	0	0	1	0	0	0	16817	275	10	4	1512	4	TTLL8	22	50472798	Missense_Mutation	SNP	A	TCGA-XD-AAUL-01A-21D-A397-08	30015734	50472798	831768	75	33825											
CYLC1	1538	broad.mit.edu	37	chrX	83129622	83129622	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcctccacctccaaaaCcaagatatgctcctttggta	5	15	0	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:83129622C>A	ENST00000329312.4	+	4	1943	c.1906C>A	c.(1906-1908)Cca>Aca	p.P636T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	636	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACCTCCAAAACCAAGATATGC	0.383													False	0	True	X:83129622	0	A	83129622	C	A	83129622	3	1	140	1	0	0	0	0	1	0	0	0	4166	507	18	3	1920	3	CYLC1	23	83129622	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		83129622	72140938	76	33826											
SATL1	340562	broad.mit.edu	37	chrX	84362345	84362345	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcttactttaatcagtcGcaaaatttctgggcagtctc	8	9	3	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:84362345G>A	ENST00000509231.1	-	1	1709	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	SATL1_ENST00000395409.3_Nonsense_Mutation_p.R357*|SATL1_ENST00000332921.5_Nonsense_Mutation_p.R357*			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	357							N-acetyltransferase activity	p.R544R(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTAATCAGTCGCAAAATTTCT	0.458													False	0	False	X:84362345	0	A	84362345	G	A	84362345	4	1	140	1	0	0	0	0	0	1	0	0	13935	1095	38	1	288	1	SATL1	23	84362345	Nonsense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	1232723	84362345	70908215	77	33827											
HTR2C	3358	broad.mit.edu	37	chrX	114141583	114141583	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcatgtggtgcccatttTtcattaccaatattctgtct	6	9	4	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:114141583T>G	ENST00000276198.1	+	6	1710	c.982T>G	c.(982-984)Ttc>Gtc	p.F328V	HTR2C_ENST00000371951.1_Missense_Mutation_p.F328V|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	328					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	GTGCCCATTTTTCATTACCAA	0.403													False	0	True	X:114141583	0	G	114141583	T	G	114141583	3	3	140	1	0	0	0	0	1	0	0	0	7493	1841	64	4	996	4	HTR2C	23	114141583	Missense_Mutation	SNP	T	TCGA-XD-AAUL-01A-21D-A397-08	29779238	114141583	41128977	78	33828											
LAMP2	0	broad.mit.edu	37	chrX	119575595	119575595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattcttacctgtagaataCtttccttgtgtcacattgaa	6	8	2	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:119575595C>T	ENST00000371335.4	-	8	1219	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	LAMP2_ENST00000200639.4_Silent_p.K361K|LAMP2_ENST00000434600.2_Silent_p.K361K|LAMP2_ENST00000538785.1_Silent_p.K250K|LAMP2_ENST00000540603.1_Silent_p.K314K	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	361	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CTGTAGAATACTTTCCTTGTG	0.343													False	0	True	X:119575595	0	T	119575595	C	T	119575595	2	4	140	1	0	0	0	0	0	0	0	1	8669	564	20	2		2	LAMP2	23	119575595	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	5434012	119575595	35694965	79	33829											
PER3	8863	broad.mit.edu	37	chr1	7887545	7887545	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttcccttttccttacttGgatacttttatgaccgtttt	5	10	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:7887545G>T	ENST00000377532.3	+	17	2780	c.2556G>T	c.(2554-2556)ttG>ttT	p.L852F	PER3_ENST00000361923.2_Missense_Mutation_p.L844F			P56645	PER3_HUMAN	period circadian clock 3	844	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.L844F(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCTTACTTGGATACTTTTA	0.567													False	0	False	1:7887545	0	T	7887545	G	T	7887545	3	4	141	1	0	0	0	0	1	0	0	0	11799	1339	47	3	2598	3	PER3	1	7887545	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		7887545	241363076	1	33830											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17958842	17958842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcaggccagcggcagctGctcctgtgtgagacgttgac	13	13	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:17958842G>A	ENST00000361221.3	+	16	1770	c.1611G>A	c.(1609-1611)ctG>ctA	p.L537L	ARHGEF10L_ENST00000452522.1_Silent_p.L498L|ARHGEF10L_ENST00000434513.1_Silent_p.L537L|ARHGEF10L_ENST00000375420.3_Silent_p.L295L|ARHGEF10L_ENST00000167825.4_Silent_p.L245L|ARHGEF10L_ENST00000375408.3_Silent_p.L315L|ARHGEF10L_ENST00000375415.1_Silent_p.L498L|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	537					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCGGCAGCTGCTCCTGTGTG	0.627													False	0	False	1:17958842	0	A	17958842	G	A	17958842	2	1	141	1	0	0	0	0	0	0	0	1	897	1306	46	2		2	ARHGEF10L	1	17958842	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	10071297	17958842	231291779	2	33831											
ZMYM4	9202	broad.mit.edu	37	chr1	35859318	35859318	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcttgcaaaccacatacCcaaaacaaagaatgccagac	4	14	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:35859318C>A	ENST00000314607.6	+	18	2969	c.2889C>A	c.(2887-2889)acC>acA	p.T963T	ZMYM4_ENST00000373297.2_Silent_p.T874T	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	963					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AACCACATACCCAAAACAAAG	0.393													False	0	True	1:35859318	0	A	35859318	C	A	35859318	2	1	141	1	0	0	0	0	0	0	0	1	17785	610	22	3		3	ZMYM4	1	35859318	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	17900476	35859318	213391303	3	33832											
CCDC30	728621	broad.mit.edu	37	chr1	43047064	43047064	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcggaaattagaacatgctCataaagtctgtctcacagac	8	9	3	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:43047064C>A	ENST00000428554.2	+	15	2242	c.1099C>A	c.(1099-1101)Cat>Aat	p.H367N	CCDC30_ENST00000340612.4_Missense_Mutation_p.H367N|CCDC30_ENST00000342022.4_Missense_Mutation_p.H367N|CCDC30_ENST00000507855.1_Missense_Mutation_p.H156N|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156N			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	367										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGAACATGCTCATAAAGTCTG	0.348													False	0	False	1:43047064	0	A	43047064	C	A	43047064	3	1	141	1	0	0	0	0	1	0	0	0	2826	826	29	3	1125	3	CCDC30	1	43047064	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	7187746	43047064	206203557	4	33833											
ZCCHC11	23318	broad.mit.edu	37	chr1	52911509	52911509	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtaccaaaaagtttccttcCattgataaatgctttcatga	6	8	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:52911509C>A	ENST00000371544.3	-	24	4034	c.3772G>T	c.(3772-3774)Gga>Tga	p.G1258*	ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.G1258*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1258					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTTTCCTTCCATTGATAAAT	0.294													False	0	True	1:52911509	0	A	52911509	C	A	52911509	4	1	141	1	0	0	0	0	0	1	0	0	17663	603	21	3	1193	3	ZCCHC11	1	52911509	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	9864445	52911509	196339112	5	33834											
LRRC7	57554	broad.mit.edu	37	chr1	70446077	70446077	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccagcctgaagttctggatCaaatacaaaatttgagggag	10	8	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:70446077C>A	ENST00000310961.5	+	10	1046	c.628C>A	c.(628-630)Caa>Aaa	p.Q210K	LRRC7_ENST00000035383.5_Missense_Mutation_p.Q205K|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	205						centrosome|focal adhesion|nucleolus	protein binding	p.Q205K(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTTCTGGATCAAATACAAAA	0.328													False	0	True	1:70446077	0	A	70446077	C	A	70446077	3	1	141	1	0	0	0	0	1	0	0	0	9082	827	29	3	639	3	LRRC7	1	70446077	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	17534568	70446077	178804544	6	33835											
ABCA4	24	broad.mit.edu	37	chr1	94466426	94466426	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaatggtgcccatacatcGaaaggcgccctttaccatga	9	12	0	2	rs140142529		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:94466426G>A	ENST00000370225.3	-	47	6531	c.6445C>T	c.(6445-6447)Cga>Tga	p.R2149*	ABCA4_ENST00000535881.1_Nonsense_Mutation_p.R268*|ABCA4_ENST00000536513.1_Nonsense_Mutation_p.R419*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2149	ABC transporter 2.		R -> L (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCATACATCGAAAGGCGCCC	0.562													False	0	True	1:94466426	0	A	94466426	G	A	94466426	4	1	141	1	0	0	0	0	0	1	0	0	34	1066	37	1	392	1	ABCA4	1	94466426	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	24020349	94466426	154784195	7	33836											
MAGI3	260425	broad.mit.edu	37	chr1	114184571	114184571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaatggcaactgtgtcctcGgtcacactcatgcagatgtt	9	11	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:114184571G>T	ENST00000369615.1	+	10	1461	c.1399G>T	c.(1399-1401)Ggt>Tgt	p.G467C	MAGI3_ENST00000307546.9_Missense_Mutation_p.G467C|MAGI3_ENST00000369611.4_Missense_Mutation_p.G467C|MAGI3_ENST00000369617.4_Missense_Mutation_p.G492C	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	492	Interaction with PTEN.|PDZ 2.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTGTCCTCGGTCACACTCA	0.358													False	0	False	1:114184571	0	T	114184571	G	T	114184571	3	4	141	1	0	0	0	0	1	0	0	0	9259	1116	39	3	1437	3	MAGI3	1	114184571	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	19718145	114184571	135066050	8	33837											
HRNR	388697	broad.mit.edu	37	chr1	152187633	152187633	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacccatgctgaccatagcGggaagacgaacctgagctag	12	11	0	4			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:152187633G>T	ENST00000368801.2	-	3	6547	c.6472C>A	c.(6472-6474)Cgc>Agc	p.R2158S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2158					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCATAGCGGGAAGACGAA	0.617													False	0	True	1:152187633	0	T	152187633	G	T	152187633	3	4	141	1	0	0	0	0	1	0	0	0	7406	1116	39	3	2084	3	HRNR	1	152187633	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	38003062	152187633	97062988	9	33838											
CRNN	49860	broad.mit.edu	37	chr1	152383339	152383339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacactaagaccaggaaTtccttgaattccacagtccc	5	12	0	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:152383339T>C	ENST00000271835.3	-	3	281	c.219A>G	c.(217-219)gaA>gaG	p.E73E	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	73	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCAGGAATTCCTTGAATT	0.537													False	0	False	1:152383339	0	C	152383339	T	C	152383339	2	2	141	1	0	0	0	0	0	0	0	1	3915	1490	52	4		4	CRNN	1	152383339	Silent	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08	195706	152383339	96867282	10	33839											
KIRREL	55243	broad.mit.edu	37	chr1	158057941	158057941	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagcactttagtaaatgtcCactgtgagtagctgggaggg	13	7	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158057941C>A	ENST00000368172.1	+	3	319	c.307C>A	c.(307-309)Cac>Aac	p.H103N	KIRREL_ENST00000368173.3_Missense_Mutation_p.H305N|KIRREL_ENST00000392272.2_Missense_Mutation_p.H202N|KIRREL_ENST00000416935.2_Missense_Mutation_p.H205N|KIRREL_ENST00000359209.6_Missense_Mutation_p.H305N|KIRREL_ENST00000360089.4_Missense_Mutation_p.H141N			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	305	Ig-like C2-type 1.					integral to membrane		p.H305N(2)|p.H141N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AGTAAATGTCCACTGTGAGTA	0.532											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	1:158057941	0	A	158057941	C	A	158057941	3	1	141	1	0	0	0	0	1	0	0	0	8374	594	21	3	939	3	KIRREL	1	158057941	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	5674602	158057941	91192680	11	33840											
SPTA1	6708	broad.mit.edu	37	chr1	158592860	158592860	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccagcgcttcagcagagcGgcataacgctcttcaatggc	10	14	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158592860G>T	ENST00000368147.4	-	43	6213	c.6033C>A	c.(6031-6033)gcC>gcA	p.A2011A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A2011A(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGCAGAGCGGCATAACGCT	0.478													False	0	False	1:158592860	0	T	158592860	G	T	158592860	2	4	141	1	0	0	0	0	0	0	0	1	15198	1103	39	3		3	SPTA1	1	158592860	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	534919	158592860	90657761	12	33841											
PYHIN1	149628	broad.mit.edu	37	chr1	158908227	158908227	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	attccagtcaaaggaataatCccatctaaaaagacgaaaca	5	9	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158908227C>A	ENST00000368140.1	+	3	551	c.306C>A	c.(304-306)atC>atA	p.I102I	PYHIN1_ENST00000392252.3_Silent_p.I93I|PYHIN1_ENST00000368135.4_Silent_p.I102I|PYHIN1_ENST00000392254.2_Silent_p.I102I|PYHIN1_ENST00000368138.3_Silent_p.I93I	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	102					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAGGAATAATCCCATCTAAAA	0.443													False	0	True	1:158908227	0	A	158908227	C	A	158908227	2	1	141	1	0	0	0	0	0	0	0	1	12944	845	30	3		3	PYHIN1	1	158908227	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	315367	158908227	90342394	13	33842											
C1orf110	339512	broad.mit.edu	37	chr1	162824970	162824970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggtctacgtccttagatGgattcacagaatctttctct	9	9	4	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:162824970G>T	ENST00000367912.2	-	4	665	c.491C>A	c.(490-492)cCa>cAa	p.P164Q	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.P160Q|C1orf110_ENST00000367910.1_Missense_Mutation_p.P165Q			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110											endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GTCCTTAGATGGATTCACAGA	0.473													False	0	False	1:162824970	0	T	162824970	G	T	162824970	3	4	141	1	0	0	0	0	1	0	0	0	1998	1348	47	3	418	3	C1orf110	1	162824970	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	3916743	162824970	86425651	14	33843											
OBSCN	84033	broad.mit.edu	37	chr1	228432014	228432014	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagcccaagatgatgtttGcaaaggagcagtcagtgcat	12	8	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:228432014G>T	ENST00000570156.2	+	12	3573	c.3499G>T	c.(3499-3501)Gca>Tca	p.A1167S	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1075S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1075S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	105	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATGATGTTTGCAAAGGAGCA	0.572													False	0	True	1:228432014	0	T	228432014	G	T	228432014	3	4	141	1	0	0	0	0	1	0	0	0	10880	1319	46	3	3261	3	OBSCN	1	228432014	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	65607044	228432014	20818607	15	33844											
KMO	8564	broad.mit.edu	37	chr1	241714324	241714324	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggaaaaaagtctgcaattCcctatgggacaaagtctcag	9	9	2	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:241714324C>A	ENST00000366559.4	+	4	603	c.292C>A	c.(292-294)Ccc>Acc	p.P98T	KMO_ENST00000366558.3_Missense_Mutation_p.P98T|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.P98T	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	98					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GTCTGCAATTCCCTATGGGAC	0.413													False	0	True	1:241714324	0	A	241714324	C	A	241714324	3	1	141	1	0	0	0	0	1	0	0	0	8474	855	30	3	306	3	KMO	1	241714324	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	13282310	241714324	7536297	16	33845											
OR2M2	391194	broad.mit.edu	37	chr1	248344093	248344093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatctgatcactccccaaCgcaggacaagatggtgtctg	9	13	3	2	rs149761766		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:248344093C>T	ENST00000359682.2	+	1	806	c.806C>T	c.(805-807)aCg>aTg	p.T269M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			CACTCCCCAACGCAGGACAAG	0.502													False	0	False	1:248344093	0	T	248344093	C	T	248344093	3	4	141	1	0	0	0	0	1	0	0	0	11078	536	19	1	808	1	OR2M2	1	248344093	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	6629769	248344093	906528	17	33846											
OR2T4	127074	broad.mit.edu	37	chr1	248524891	248524891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgaaacctcatggacaaCatcacctggatggccagcca	10	12	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:248524891C>T	ENST00000366475.1	+	1	9	c.9C>T	c.(7-9)aaC>aaT	p.N3N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATGGACAACATCACCTGGA	0.468													False	0	False	1:248524891	0	T	248524891	C	T	248524891	2	4	141	1	0	0	0	0	0	0	0	1	11095	477	17	2		2	OR2T4	1	248524891	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	180798	248524891	725730	18	33847											
NT5C1B	93034	broad.mit.edu	37	chr2	18766145	18766145	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcagctggggcgacgcggGtggctggagcgagggctgcc	23	10	0	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:18766145G>T	ENST00000304081.4	-	4	458	c.358C>A	c.(358-360)Ccc>Acc	p.P120T	NT5C1B_ENST00000359846.2_Missense_Mutation_p.P180T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.P180T|NT5C1B_ENST00000600945.1_Missense_Mutation_p.P180T	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGCGACGCGGGTGGCTGGAGC	0.716													False	0	True	2:18766145	0	T	18766145	G	T	18766145	3	4	141	1	0	0	0	0	1	0	0	0	10754	1261	44	3	1318	3	NT5C1B	2	18766145	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		18766145	224433228	19	33848											
VRK2	7444	broad.mit.edu	37	chr2	58315553	58315553	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaatggtacctttaaaaagtCaactgtcctgcaattaggta	8	7	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:58315553C>A	ENST00000435505.2	+	9	1167	c.422C>A	c.(421-423)tCa>tAa	p.S141*	VRK2_ENST00000417641.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000340157.4_Nonsense_Mutation_p.S141*|VRK2_ENST00000412104.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000440705.2_Nonsense_Mutation_p.S118*			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	141	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TTTAAAAAGTCAACTGTCCTG	0.333													False	0	False	2:58315553	0	A	58315553	C	A	58315553	4	1	141	1	0	0	0	0	0	1	0	0	17304	838	29	3	440	3	VRK2	2	58315553	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	39549408	58315553	184883820	20	33849											
B3GNT2	10678	broad.mit.edu	37	chr2	62449693	62449693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacgggttttaacaacttgcCggacagatttaaagactttc	8	8	0	2	rs142462866		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:62449693C>A	ENST00000301998.4	+	2	590	c.338C>A	c.(337-339)cCg>cAg	p.P113Q	B3GNT2_ENST00000405767.1_Missense_Mutation_p.P113Q	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	113						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AACAACTTGCCGGACAGATTT	0.483													False	0	False	2:62449693	0	A	62449693	C	A	62449693	3	1	141	1	0	0	0	0	1	0	0	0	1261	652	23	3	340	3	B3GNT2	2	62449693	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	4134140	62449693	180749680	21	33850											
PTPN4	5775	broad.mit.edu	37	chr2	120692428	120692428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttacgaccatcttcagttGgtcatttggtagaccatatg	10	8	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:120692428G>T	ENST00000263708.2	+	15	2020	c.1249G>T	c.(1249-1251)Ggt>Tgt	p.G417C	PTPN4_ENST00000544261.1_Missense_Mutation_p.G50C	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	417						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATCTTCAGTTGGTCATTTGGT	0.388													False	0	False	2:120692428	0	T	120692428	G	T	120692428	3	4	141	1	0	0	0	0	1	0	0	0	12869	1348	47	3	1303	3	PTPN4	2	120692428	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	58242735	120692428	122506945	22	33851											
SPOPL	339745	broad.mit.edu	37	chr2	139326586	139326586	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttagtagcagaagcctttcGagcactagcatctgcacagt	9	10	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:139326586G>T	ENST00000280098.4	+	11	1494	c.1115G>T	c.(1114-1116)cGa>cTa	p.R372L		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	372						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GAAGCCTTTCGAGCACTAGCA	0.423													False	0	False	2:139326586	0	T	139326586	G	T	139326586	3	4	141	1	0	0	0	0	1	0	0	0	15167	1058	37	3	1153	3	SPOPL	2	139326586	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	18634158	139326586	103872787	23	33852											
LY75	4065	broad.mit.edu	37	chr2	160667045	160667045	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attttaactcaccatgttttGaacacaattttttggcctct	4	9	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:160667045G>T	ENST00000263636.4	-	32	4718	c.4691C>A	c.(4690-4692)tCa>tAa	p.S1564*	LY75_ENST00000554112.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.S1564*|LY75_ENST00000553424.1_Nonsense_Mutation_p.S1564*	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACCATGTTTTGAACACAATTT	0.338													False	0	True	2:160667045	0	T	160667045	G	T	160667045	4	4	141	1	0	0	0	0	0	1	0	0	9162	1294	45	3	493	3	LY75	2	160667045	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	21340459	160667045	82532328	24	33853											
ITGB6	3694	broad.mit.edu	37	chr2	160964209	160964209	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgtttgccacttggcttttGatcgttctgcttcaaatttg	8	10	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:160964209G>T	ENST00000283249.2	-	14	2486	c.2249C>A	c.(2248-2250)tCa>tAa	p.S750*	ITGB6_ENST00000409967.2_Nonsense_Mutation_p.S643*|ITGB6_ENST00000409872.1_Nonsense_Mutation_p.S750*|ITGB6_ENST00000428609.2_Nonsense_Mutation_p.S708*	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	750	Interaction with HAX1.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CTTGGCTTTTGATCGTTCTGC	0.473													False	0	True	2:160964209	0	T	160964209	G	T	160964209	4	4	141	1	0	0	0	0	0	1	0	0	7949	1294	45	3	125	3	ITGB6	2	160964209	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	297164	160964209	82235164	25	33854											
TTN	7273	broad.mit.edu	37	chr2	179583118	179583118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcaggcagctgtactgtgCataatcctctattgtgctct	8	10	3	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:179583118C>T	ENST00000589042.1	-	85	24939	c.24715G>A	c.(24715-24717)Gca>Aca	p.A8239T	TTN_ENST00000591111.1_Missense_Mutation_p.A7922T|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A6995T|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7922	Ig-like 65.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTACTGTGCATAATCCTCT	0.398													False	0	False	2:179583118	0	T	179583118	C	T	179583118	3	4	141	1	0	0	0	0	1	0	0	0	16819	710	25	2	79926	2	TTN	2	179583118	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	18618909	179583118	63616255	26	33855											
TTN	7273	broad.mit.edu	37	chr2	179598474	179598474	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccattggaaaagctcattttGatttttccgtcttctctgat	6	9	3	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:179598474G>T	ENST00000589042.1	-	53	15866	c.15642C>A	c.(15640-15642)atC>atA	p.I5214I	TTN_ENST00000591111.1_Silent_p.I4897I|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I3970I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4897	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTCATTTTGATTTTTCCGT	0.453													False	0	True	2:179598474	0	T	179598474	G	T	179598474	2	4	141	1	0	0	0	0	0	0	0	1	16819	1280	45	3		3	TTN	2	179598474	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	15356	179598474	63600899	27	33856											
STAT1	6772	broad.mit.edu	37	chr2	191847210	191847210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctgaaagctgagcccatCgtgcacatggtggagtcagg	13	10	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:191847210C>T	ENST00000361099.3	-	18	1868	c.1481G>A	c.(1480-1482)cGa>cAa	p.R494Q	STAT1_ENST00000392323.2_Missense_Mutation_p.R496Q|STAT1_ENST00000409465.1_Missense_Mutation_p.R494Q|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.R494Q	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	494					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CTGAGCCCATCGTGCACATGG	0.463													False	0	False	2:191847210	0	T	191847210	C	T	191847210	3	4	141	1	0	0	0	0	1	0	0	0	15346	884	31	1	807	1	STAT1	2	191847210	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	12248736	191847210	51352163	28	33857											
OBSL1	23363	broad.mit.edu	37	chr2	220421218	220421218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggccgtgctccctgcccGcaaagtcacggtccctgcat	11	16	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:220421218G>A	ENST00000404537.1	-	13	4350	c.4294C>T	c.(4294-4296)Cgg>Tgg	p.R1432W	OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1340W|OBSL1_ENST00000603926.1_Missense_Mutation_p.R1432W|OBSL1_ENST00000265317.5_Missense_Mutation_p.R331W	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1432	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTCCCTGCCCGCAAAGTCACG	0.607													False	0	True	2:220421218	0	A	220421218	G	A	220421218	3	1	141	1	0	0	0	0	1	0	0	0	10881	1086	38	1	1455	1	OBSL1	2	220421218	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	28574008	220421218	22778155	29	33858											
TRIP12	9320	broad.mit.edu	37	chr2	230670536	230670536	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgctgcatagaattaaaatCaatagtataaactcgtccca	5	8	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:230670536C>A	ENST00000389045.3	-	15	1597	c.1525G>T	c.(1525-1527)Gat>Tat	p.D509Y	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000283943.5_Intron|TRIP12_ENST00000389044.4_Intron			Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	784					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GAATTAAAATCAATAGTATAA	0.418													False	0	False	2:230670536	0	A	230670536	C	A	230670536	3	1	141	1	0	0	0	0	1	0	0	0	16639	841	29	3		3	TRIP12	2	230670536	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	10249318	230670536	12528837	30	33859											
PSMD1	5707	broad.mit.edu	37	chr2	231937111	231937111	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactaatacgggtactgttcCgggatcagagaaagacaggt	12	8	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:231937111C>A	ENST00000308696.6	+	7	1025	c.863C>A	c.(862-864)cCg>cAg	p.P288Q	PSMD1_ENST00000373635.4_Missense_Mutation_p.P288Q|PSMD1_ENST00000409643.1_Missense_Mutation_p.P288Q	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	288					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.P288Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGTACTGTTCCGGGATCAGAG	0.403													False	0	True	2:231937111	0	A	231937111	C	A	231937111	3	1	141	1	0	0	0	0	1	0	0	0	12768	652	23	3	889	3	PSMD1	2	231937111	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	1266575	231937111	11262262	31	33860											
HDLBP	3069	broad.mit.edu	37	chr2	242187757	242187757	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gattagatccttggtacgctCattttcctaaaaatacaatt	5	8	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:242187757C>A	ENST00000391975.1	-	13	1746	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	HDLBP_ENST00000310931.4_Nonsense_Mutation_p.E507*|HDLBP_ENST00000427183.2_Nonsense_Mutation_p.E474*|HDLBP_ENST00000391976.2_Nonsense_Mutation_p.E507*|HDLBP_ENST00000476807.1_5'UTR	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	507	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TTGGTACGCTCATTTTCCTAA	0.463													False	0	False	2:242187757	0	A	242187757	C	A	242187757	4	1	141	1	0	0	0	0	0	1	0	0	7072	835	29	3	2351	3	HDLBP	2	242187757	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	10250646	242187757	1011616	32	33861											
THUMPD3	25917	broad.mit.edu	37	chr3	9416208	9416208	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actttgctataggttcttttGaacatccatgataatgaagt	7	6	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:9416208G>T	ENST00000345094.3	+	5	1150	c.816G>T	c.(814-816)ttG>ttT	p.L272F	THUMPD3_ENST00000515662.2_Missense_Mutation_p.L272F|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L272F	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	272	THUMP.						methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		AGGTTCTTTTGAACATCCATG	0.393													False	0	True	3:9416208	0	T	9416208	G	T	9416208	3	4	141	1	0	0	0	0	1	0	0	0	15966	1281	45	3	830	3	THUMPD3	3	9416208	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		9416208	188606222	33	33862											
TRANK1	9881	broad.mit.edu	37	chr3	36897208	36897208	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaggcagtcctccctttGgtcattttgggccatatttc	9	10	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:36897208G>T	ENST00000429976.2	-	12	4120	c.3873C>A	c.(3871-3873)acC>acA	p.T1291T	TRANK1_ENST00000428977.2_Silent_p.T741T|TRANK1_ENST00000301807.6_Silent_p.T741T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1291					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCTCCCTTTGGTCATTTTGG	0.473													False	0	True	3:36897208	0	T	36897208	G	T	36897208	2	4	141	1	0	0	0	0	0	0	0	1	16537	1335	47	3		3	TRANK1	3	36897208	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	27481000	36897208	161125222	34	33863											
SCN5A	6331	broad.mit.edu	37	chr3	38645288	38645288	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtcgcctgcccccagtaatGagaccaccccattgcagtcc	9	17	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:38645288G>T	ENST00000413689.1	-	12	1998	c.1805C>A	c.(1804-1806)tCa>tAa	p.S602*	SCN5A_ENST00000455624.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.S602*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.S602*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.S602*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	602					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCCCAGTAATGAGACCACCCC	0.657													False	0	False	3:38645288	0	T	38645288	G	T	38645288	4	4	141	1	0	0	0	0	0	1	0	0	14003	1294	45	3	4313	3	SCN5A	3	38645288	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	1748080	38645288	159377142	35	33864											
CCRL2	0	broad.mit.edu	37	chr3	46450404	46450404	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagagcagctacaatctGgacaaaagtgttcacatcac	8	10	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:46450404G>T	ENST00000399036.3	+	2	1186	c.834G>T	c.(832-834)ctG>ctT	p.L278L	CCRL2_ENST00000400882.2_Silent_p.L278L|CCRL2_ENST00000400880.3_Silent_p.L278L|CCRL2_ENST00000357392.4_Silent_p.L290L	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2						chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		GCTACAATCTGGACAAAAGTG	0.458													False	0	False	3:46450404	0	T	46450404	G	T	46450404	2	4	141	1	0	0	0	0	0	0	0	1	2973	1335	47	3		3	CCRL2	3	46450404	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	7805116	46450404	151572026	36	33865											
DNAH1	25981	broad.mit.edu	37	chr3	52398935	52398935	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctctggcatcgtgtcCgacctgtttcccaccatcaa	6	16	3	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:52398935C>A	ENST00000420323.2	+	34	5679	c.5418C>A	c.(5416-5418)tcC>tcA	p.S1806S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1806					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCATCGTGTCCGACCTGTTTC	0.607													False	0	False	3:52398935	0	A	52398935	C	A	52398935	2	1	141	1	0	0	0	0	0	0	0	1	4627	639	23	3		3	DNAH1	3	52398935	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	5948531	52398935	145623495	37	33866											
PDZRN3	23024	broad.mit.edu	37	chr3	73432928	73432928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcttggtgatgtagcgcGtcccgtcgctgcggatcttc	13	13	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:73432928G>A	ENST00000263666.4	-	10	2903	c.2789C>T	c.(2788-2790)aCg>aTg	p.T930M	PDZRN3_ENST00000466780.1_Missense_Mutation_p.T587M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T647M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T652M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T587M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	930							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GATGTAGCGCGTCCCGTCGCT	0.672													False	0	False	3:73432928	0	A	73432928	G	A	73432928	3	1	141	1	0	0	0	0	1	0	0	0	11777	1145	40	1	415	1	PDZRN3	3	73432928	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	21033993	73432928	124589502	38	33867											
MRPL3	11222	broad.mit.edu	37	chr3	131219286	131219286	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctcttacctgaagtaatgtGaccacatgcttttgaccatc	6	11	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:131219286G>T	ENST00000264995.3	-	3	504	c.357C>A	c.(355-357)gtC>gtA	p.V119V	MRPL3_ENST00000425847.2_Silent_p.V146V|MRPL3_ENST00000506946.1_5'UTR	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	119					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GAAGTAATGTGACCACATGCT	0.398													False	0	False	3:131219286	0	T	131219286	G	T	131219286	2	4	141	1	0	0	0	0	0	0	0	1	9860	1277	45	3		3	MRPL3	3	131219286	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	57786358	131219286	66803144	39	33868											
EPHB1	2047	broad.mit.edu	37	chr3	134873104	134873104	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctggactatgagatcCggtactatgagaaggtgagc	12	8	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:134873104C>A	ENST00000398015.3	+	6	1778	c.1408C>A	c.(1408-1410)Cgg>Agg	p.R470R	EPHB1_ENST00000493838.1_Silent_p.R31R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	470	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTATGAGATCCGGTACTATGA	0.542													False	0	False	3:134873104	0	A	134873104	C	A	134873104	2	1	141	1	0	0	0	0	0	0	0	1	5206	643	23	3		3	EPHB1	3	134873104	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	3653818	134873104	63149326	40	33869											
SPATA16	83893	broad.mit.edu	37	chr3	172634107	172634107	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacaaagaaaaatacttacCaattctgcctcctgttgact	4	10	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:172634107C>A	ENST00000351008.3	-	9	1686	c.1503G>T	c.(1501-1503)ttG>ttT	p.L501F		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	501					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAATACTTACCAATTCTGCCT	0.408													False	0	False	3:172634107	0	A	172634107	C	A	172634107	5	1	141	1	0	0	0	0	0	0	1	0	15083	608	21	3	218	3	SPATA16	3	172634107	Splice_Site	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	37761003	172634107	25388323	41	33870											
NLGN1	22871	broad.mit.edu	37	chr3	173998609	173998609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcccaaacaacaaccaaGtccattttcagtggatcaaa	5	11	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:173998609G>A	ENST00000457714.1	+	7	2417	c.1988G>A	c.(1987-1989)aGt>aAt	p.S663N	NLGN1_ENST00000361589.4_Missense_Mutation_p.S663N|NLGN1_ENST00000545397.1_Missense_Mutation_p.S663N|NLGN1_ENST00000401917.3_Missense_Mutation_p.S703N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	680					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAACAACCAAGTCCATTTTCA	0.468													False	0	False	3:173998609	0	A	173998609	G	A	173998609	3	1	141	1	0	0	0	0	1	0	0	0	10529	1029	36	2	2006	2	NLGN1	3	173998609	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	1364502	173998609	24023821	42	33871											
IQCG	84223	broad.mit.edu	37	chr3	197665429	197665429	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttccttacctatcaatctGaattttcttcagtgtctccg	4	13	5	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:197665429G>T	ENST00000265239.6	-	5	929	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	IQCG_ENST00000455191.1_Missense_Mutation_p.Q169K|IQCG_ENST00000453254.1_Missense_Mutation_p.Q169K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	169										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTATCAATCTGAATTTTCTTC	0.453													False	0	False	3:197665429	0	T	197665429	G	T	197665429	3	4	141	1	0	0	0	0	1	0	0	0	7860	1299	45	3	858	3	IQCG	3	197665429	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	23666820	197665429	357001	43	33872											
WDR19	57728	broad.mit.edu	37	chr4	39276564	39276564	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccaaatacaaaaagaagatCgagggaatggtcaggtaggc	13	6	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:39276564C>A	ENST00000399820.3	+	33	3856	c.3702C>A	c.(3700-3702)atC>atA	p.I1234I	WDR19_ENST00000288634.7_Silent_p.I1074I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1234					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AAAAGAAGATCGAGGGAATGG	0.438													False	0	False	4:39276564	0	A	39276564	C	A	39276564	2	1	141	1	0	0	0	0	0	0	0	1	17363	874	31	3		3	WDR19	4	39276564	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08		39276564	151877712	44	33873											
GABRB1	2560	broad.mit.edu	37	chr4	47033985	47033985	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagacagtggacagattgctCaaaggatatgacattcgctt	11	7	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:47033985C>A	ENST00000295454.3	+	2	427	c.135C>A	c.(133-135)ctC>ctA	p.L45L	GABRB1_ENST00000538619.1_5'UTR|GABRB1_ENST00000509366.1_3'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	45					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACAGATTGCTCAAAGGATATG	0.443													False	0	True	4:47033985	0	A	47033985	C	A	47033985	2	1	141	1	0	0	0	0	0	0	0	1	6208	813	29	3		3	GABRB1	4	47033985	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	7757421	47033985	144120291	45	33874											
HSD17B11	51170	broad.mit.edu	37	chr4	88258508	88258508	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaaactgccaggaaacgctCaggaaggatcctaaaagaaa	9	8	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:88258508C>A	ENST00000358290.4	-	7	1138	c.823G>T	c.(823-825)Gag>Tag	p.E275*	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.E231*	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	275					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AGGAAACGCTCAGGAAGGATC	0.294													False	0	True	4:88258508	0	A	88258508	C	A	88258508	4	1	141	1	0	0	0	0	0	1	0	0	7427	835	29	3	83	3	HSD17B11	4	88258508	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	41224523	88258508	102895768	46	33875											
DNAJB14	79982	broad.mit.edu	37	chr4	100830014	100830014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcatactgttttcgcTtttctggattacttaaaaca	7	7	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:100830014T>C	ENST00000442697.2	-	4	645	c.491A>G	c.(490-492)aAg>aGg	p.K164R		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	164	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		CTGTTTTCGCTTTTCTGGATT	0.353													False	0	True	4:100830014	0	C	100830014	T	C	100830014	3	2	141	1	0	0	0	0	1	0	0	0	4649	1609	56	4	668	4	DNAJB14	4	100830014	Missense_Mutation	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08	12571506	100830014	90324262	47	33876											
PRDM5	11107	broad.mit.edu	37	chr4	121739540	121739540	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctgcttaactgggaatttCttcccacagttcttgcactt	7	12	2	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:121739540C>A	ENST00000264808.3	-	5	858	c.618G>T	c.(616-618)aaG>aaT	p.K206N	PRDM5_ENST00000428209.2_Missense_Mutation_p.K206N|PRDM5_ENST00000515109.1_Missense_Mutation_p.K206N	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	206					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGGGAATTTCTTCCCACAGT	0.373													False	0	True	4:121739540	0	A	121739540	C	A	121739540	3	1	141	1	0	0	0	0	1	0	0	0	12536	912	32	3	1322	3	PRDM5	4	121739540	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	20909526	121739540	69414736	48	33877											
FAT4	79633	broad.mit.edu	37	chr4	126370128	126370128	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccctcctttctcctcttacGagaaacttgatataacagta	4	12	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:126370128G>T	ENST00000394329.3	+	9	7970	c.7957G>T	c.(7957-7959)Gag>Tag	p.E2653*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E951*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2653	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ctCCTCTTACGAGAAACTTGA	0.373													False	0	False	4:126370128	0	T	126370128	G	T	126370128	4	4	141	1	0	0	0	0	0	1	0	0	5732	1059	37	3	7991	3	FAT4	4	126370128	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	4630588	126370128	64784148	49	33878											
AHRR	57491	broad.mit.edu	37	chr5	422893	422893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacatccacgtggacgaccGccaggacttctgccggcagc	11	16	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:422893G>A	ENST00000316418.5	+	6	547	c.503G>A	c.(502-504)cGc>cAc	p.R168H	AHRR_ENST00000512529.1_Missense_Mutation_p.R14H|AHRR_ENST00000506456.1_Missense_Mutation_p.R24H|AHRR_ENST00000505113.1_Missense_Mutation_p.R168H	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	168	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GTGGACGACCGCCAGGACTTC	0.567													False	0	False	5:422893	0	A	422893	G	A	422893	3	1	141	1	0	0	0	0	1	0	0	0	417	1087	38	1	525	1	AHRR	5	422893	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		422893	180492367	50	33879											
UGT3A2	167127	broad.mit.edu	37	chr5	36066823	36066823	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagatattgtcaggattttGgcagcctctgagagcaggac	13	7	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:36066823G>T	ENST00000282507.3	-	1	170	c.69C>A	c.(67-69)gcC>gcA	p.A23A	UGT3A2_ENST00000513300.1_Silent_p.A23A|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	23						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAGGATTTTGGCAGCCTCTG	0.592													False	0	True	5:36066823	0	T	36066823	G	T	36066823	2	4	141	1	0	0	0	0	0	0	0	1	17048	1335	47	3		3	UGT3A2	5	36066823	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	35643930	36066823	144848437	51	33880											
PRKAA1	5562	broad.mit.edu	37	chr5	40767579	40767579	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttattacctgatatctttGattgtggccctcttcatggg	8	9	3	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:40767579G>T	ENST00000397128.2	-	6	818	c.810C>A	c.(808-810)atC>atA	p.I270I	PRKAA1_ENST00000354209.3_Silent_p.I285I	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	270	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGATATCTTTGATTGTGGCCC	0.348													False	0	True	5:40767579	0	T	40767579	G	T	40767579	2	4	141	1	0	0	0	0	0	0	0	1	12569	1280	45	3		3	PRKAA1	5	40767579	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	4700756	40767579	140147681	52	33881											
OXCT1	5019	broad.mit.edu	37	chr5	41840613	41840613	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgaaattccttgcacttttCctacaggggtggaggagata	11	7	0	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:41840613C>A	ENST00000196371.5	-	7	832	c.672G>T	c.(670-672)agG>agT	p.R224S	OXCT1_ENST00000509987.1_Splice_Site_p.R38S	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	224					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTGCACTTTTCCTACAGGGGT	0.368													False	0	True	5:41840613	0	A	41840613	C	A	41840613	5	1	141	1	0	0	0	0	0	0	1	0	11397	869	30	3	934	3	OXCT1	5	41840613	Splice_Site	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	1073034	41840613	139074647	53	33882											
HMGCR	3156	broad.mit.edu	37	chr5	74643116	74643116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgaatgtcttgtgattGgagttggtaccatgtcaggt	13	4	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:74643116G>A	ENST00000287936.4	+	6	694	c.538G>A	c.(538-540)Gga>Aga	p.G180R	HMGCR_ENST00000343975.5_Missense_Mutation_p.G180R|HMGCR_ENST00000511206.1_Missense_Mutation_p.G180R	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	180					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TCTTGTGATTGGAGTTGGTAC	0.353													False	0	False	5:74643116	0	A	74643116	G	A	74643116	3	1	141	1	0	0	0	0	1	0	0	0	7278	1349	47	2	556	2	HMGCR	5	74643116	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	32802503	74643116	106272144	54	33883											
CMYA5	202333	broad.mit.edu	37	chr5	79025398	79025398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcatccattagtctagaGccagatttggacaatagtgg	11	7	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:79025398G>A	ENST00000446378.2	+	2	841	c.810G>A	c.(808-810)gaG>gaA	p.E270E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	270						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTAGTCTAGAGCCAGATTTGG	0.353													False	0	False	5:79025398	0	A	79025398	G	A	79025398	2	1	141	1	0	0	0	0	0	0	0	1	3613	962	34	2		2	CMYA5	5	79025398	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	4382282	79025398	101889862	55	33884											
SRA1	10011	broad.mit.edu	37	chr5	139931627	139931628	+	In_Frame_Ins	INS	-	-	AGT													gtctcagcacatcctccatcINSacagcctcagactcgactgg					rs148588257	by1000genomes	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:139931627_139931628insAGT	ENST00000336283.6	-	3	1150_1151	c.329_330insACT	c.(328-330)gtg>gtACTg	p.110_111insL	SRA1_ENST00000520427.1_5'UTR	NM_001035235.3	NP_001030312.2	Q9HD15	SRA1_HUMAN	steroid receptor RNA activator 1	110				V -> RL (in Ref. 1; AAG02116 and 2; AAL55868).	apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCTCCATCACAGCCTCAGA	0.589													False	0	False	5:139931627	0	AGT	139931628	-	AGT	139931627	7	5	141	1	0	1	1	0	0	0	0	0	15214	813	29	0	392	0	SRA1	5	139931627	In_Frame_Ins	INS	-	TCGA-XN-A8T3-01A-11D-A36O-08	60906229	139931627	40983633	56	33885											
PCDHA11	0	broad.mit.edu	37	chr5	140250312	140250312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgcgcgatgcgggcgtgCcgcctctgagcagcaacgtg	17	14	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:140250312C>T	ENST00000398640.2	+	1	1624	c.1624C>T	c.(1624-1626)Ccg>Tcg	p.P542S	PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCGTGCCGCCTCTGAG	0.692													False	0	False	5:140250312	0	T	140250312	C	T	140250312	3	4	141	1	0	0	0	0	1	0	0	0	11589	739	26	2	1626	2	PCDHA11	5	140250312	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	318685	140250312	40664948	57	33886											
PPP2R2B	5521	broad.mit.edu	37	chr5	146080689	146080689	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgtggttgaattctacCgtagagataatgtcagctgc	11	9	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:146080689C>A	ENST00000394413.3	-	2	657	c.87G>T	c.(85-87)acG>acT	p.T29T	PPP2R2B_ENST00000394409.3_Silent_p.T87T|PPP2R2B_ENST00000508545.2_Silent_p.T18T|PPP2R2B_ENST00000394410.2_Silent_p.T18T|PPP2R2B_ENST00000336640.6_Silent_p.T32T|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Silent_p.T29T|PPP2R2B_ENST00000394414.1_Silent_p.T95T|PPP2R2B_ENST00000453001.1_Silent_p.T29T|PPP2R2B_ENST00000356826.3_Silent_p.T29T|PPP2R2B_ENST00000504198.1_Silent_p.T35T			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	29					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAATTCTACCGTAGAGATAA	0.418													False	0	False	5:146080689	0	A	146080689	C	A	146080689	2	1	141	1	0	0	0	0	0	0	0	1	12459	639	23	3		3	PPP2R2B	5	146080689	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	5830377	146080689	34834571	58	33887											
GLRA1	2741	broad.mit.edu	37	chr5	151208531	151208531	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagctccttatgttgcCgagacacaaagttaacggca	11	10	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:151208531C>A	ENST00000274576.4	-	8	1302	c.1010G>T	c.(1009-1011)cGg>cTg	p.R337L	GLRA1_ENST00000455880.2_Missense_Mutation_p.R337L|GLRA1_ENST00000545569.1_Missense_Mutation_p.R254L	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	337					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTATGTTGCCGAGACACAAA	0.478													False	0	False	5:151208531	0	A	151208531	C	A	151208531	3	1	141	1	0	0	0	0	1	0	0	0	6499	652	23	3	371	3	GLRA1	5	151208531	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	5127842	151208531	29706729	59	33888											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	141	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-XN-A8T3-01A-11D-A36O-08		7393450	163721617	60	33889											
TRIM38	10475	broad.mit.edu	37	chr6	25972146	25972146	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggtctgactttaagaatcTccagtgtttcctacatgagg	9	10	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:25972146T>G	ENST00000357085.3	+	5	1033	c.557T>G	c.(556-558)cTc>cGc	p.L186R	TRIM38_ENST00000349458.3_Missense_Mutation_p.L186R	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	186					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TTTAAGAATCTCCAGTGTTTC	0.438													False	0	False	6:25972146	0	G	25972146	T	G	25972146	3	3	141	1	0	0	0	0	1	0	0	0	16595	1551	54	4	567	4	TRIM38	6	25972146	Missense_Mutation	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08	18578696	25972146	145142921	61	33890											
TNXB	7148	broad.mit.edu	37	chr6	32049954	32049954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtaccacctggggccGtccatccctgtccctgtact	9	17	0	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:32049954G>A	ENST00000375244.3	-	9	3796	c.3595C>T	c.(3595-3597)Cgg>Tgg	p.R1199W	TNXB_ENST00000375247.2_Missense_Mutation_p.R1199W			P22105	TENX_HUMAN	tenascin XB	1286	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCTGGGGCCGTCCATCCCTG	0.562													False	0	False	6:32049954	0	A	32049954	G	A	32049954	3	1	141	1	0	0	0	0	1	0	0	0	16428	1144	40	1	11262	1	TNXB	6	32049954	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	6077808	32049954	139065113	62	33891											
TINAG	27283	broad.mit.edu	37	chr6	54254663	54254663	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcgaggagtaaatgagtcCgacattgaaaagttgattat	10	5	0	3	rs139720660		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:54254663C>A	ENST00000259782.4	+	11	1467	c.1371C>A	c.(1369-1371)tcC>tcA	p.S457S		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	457					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TAAATGAGTCCGACATTGAAA	0.398													False	0	False	6:54254663	0	A	54254663	C	A	54254663	2	1	141	1	0	0	0	0	0	0	0	1	16003	639	23	3		3	TINAG	6	54254663	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	22204709	54254663	116860404	63	33892											
GFRAL	389400	broad.mit.edu	37	chr6	55216353	55216353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacttgcctcagtgtaattCgcagctgccaaaatgatgaa	8	10	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:55216353C>T	ENST00000340465.2	+	5	759	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	225						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAGTGTAATTCGCAGCTGCCA	0.428													False	0	False	6:55216353	0	T	55216353	C	T	55216353	3	4	141	1	0	0	0	0	1	0	0	0	6396	884	31	1	691	1	GFRAL	6	55216353	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	961690	55216353	115898714	64	33893											
DSE	29940	broad.mit.edu	37	chr6	116756757	116756757	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattaatttcaggtatgatGgcagcttgaaatcggttcct	9	6	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:116756757G>T	ENST00000331677.3	+	7	1570	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	DSE_ENST00000359564.2_Missense_Mutation_p.G376C|DSE_ENST00000452085.3_Missense_Mutation_p.G376C|DSE_ENST00000537543.1_Missense_Mutation_p.G395C			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	376					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAGGTATGATGGCAGCTTGAA	0.408													False	0	False	6:116756757	0	T	116756757	G	T	116756757	3	4	141	1	0	0	0	0	1	0	0	0	4804	1348	47	3	1144	3	DSE	6	116756757	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	61540404	116756757	54358310	65	33894											
ENPP3	5169	broad.mit.edu	37	chr6	131979467	131979467	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttttccattttcaggtttGacctgccaccagttatcttg	7	10	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:131979467G>T	ENST00000414305.1	+	7	797	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	ENPP3_ENST00000357639.3_Missense_Mutation_p.D157Y|ENPP3_ENST00000543135.1_Missense_Mutation_p.D123Y|ENPP3_ENST00000358229.5_Missense_Mutation_p.D157Y|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000427148.2_Missense_Mutation_p.D123Y			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	157	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTTCAGGTTTGACCTGCCACC	0.328													False	0	True	6:131979467	0	T	131979467	G	T	131979467	3	4	141	1	0	0	0	0	1	0	0	0	5163	1290	45	3	491	3	ENPP3	6	131979467	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	15222710	131979467	39135600	66	33895											
HEBP2	23593	broad.mit.edu	37	chr6	138734065	138734065	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaatcaagaacaacttttGacattagcaagcattttaag	6	6	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:138734065G>T	ENST00000367697.3	+	4	599	c.350G>T	c.(349-351)tGa>tTa	p.*117L	HEBP2_ENST00000448741.1_Nonstop_Mutation_p.*128L|HEBP2_ENST00000607197.1_Missense_Mutation_p.L156F			Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	0						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		AACAACTTTTGACATTAGCAA	0.353													False	0	True	6:138734065	0	T	138734065	G	T	138734065	4	4	141	1	0	0	0	0	0	0	0	0	7084	1281	45	3	482	3	HEBP2	6	138734065	Nonstop_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	6754598	138734065	32381002	67	33896											
FNDC1	84624	broad.mit.edu	37	chr6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-													agcagtcggtctcagccgagGacgacgaggaggaggacgcg							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65													False	2	False	6:159655079	0	-	159655081	GAC	-	159655079	7	5	141	1	0	1	0	1	0	0	0	0	6008	1174	41	0	3577	0	FNDC1	6	159655079	In_Frame_Del	DEL	GAC	TCGA-XN-A8T3-01A-11D-A36O-08	20921014	159655079	11459988	68	33897											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	141	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-XN-A8T3-01A-11D-A36O-08		44153778	114984885	69	33898											
FASTK	10922	broad.mit.edu	37	chr7	150775665	150775665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttgctgctgagttgcGtttcctgaaccaccaggaag	10	13	0	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:150775665G>A	ENST00000297532.6	-	4	886	c.809C>T	c.(808-810)aCg>aTg	p.T270M	FASTK_ENST00000353841.2_Missense_Mutation_p.T129M|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.T243M	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	270					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GCTGAGTTGCGTTTCCTGAAC	0.642													False	0	True	7:150775665	0	A	150775665	G	A	150775665	3	1	141	1	0	0	0	0	1	0	0	0	5724	1145	40	1	868	1	FASTK	7	150775665	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	106621887	150775665	8362998	70	33899											
RNF32	140545	broad.mit.edu	37	chr7	156437421	156437421	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actcagaaaaagaatatgttCttgatcccaaaccgccgccg	7	12	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:156437421C>A	ENST00000392741.2	+	2	332	c.244C>A	c.(244-246)Ctt>Att	p.L82I	RNF32_ENST00000311822.8_Missense_Mutation_p.L82I|RNF32_ENST00000405335.1_Missense_Mutation_p.L82I|RNF32_ENST00000392740.1_Missense_Mutation_p.L82I|RNF32_ENST00000343665.4_Missense_Mutation_p.L82I|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000432459.2_Missense_Mutation_p.L82I|RNF32_ENST00000392743.2_Missense_Mutation_p.L82I|RNF32_ENST00000317955.5_Missense_Mutation_p.L82I			Q9H0A6	RNF32_HUMAN	ring finger protein 32	82						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGAATATGTTCTTGATCCCAA	0.353													False	0	False	7:156437421	0	A	156437421	C	A	156437421	3	1	141	1	0	0	0	0	1	0	0	0	13567	913	32	3	250	3	RNF32	7	156437421	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	5661756	156437421	2701242	71	33900											
C8orf34	116328	broad.mit.edu	37	chr8	69552683	69552683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaaatttaaccaaggccGtcctacttaccctgctgagc	8	13	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:69552683G>A	ENST00000337103.4	+	7	2437	c.845G>A	c.(844-846)cGt>cAt	p.R282H	C8orf34_ENST00000518698.1_Missense_Mutation_p.R393H|C8orf34_ENST00000325233.3_Missense_Mutation_p.R51H|C8orf34_ENST00000539993.1_Missense_Mutation_p.R307H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	307					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AACCAAGGCCGTCCTACTTAC	0.413													False	0	False	8:69552683	0	A	69552683	G	A	69552683	3	1	141	1	0	0	0	0	1	0	0	0	2442	1145	40	1	871	1	C8orf34	8	69552683	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		69552683	76811339	72	33901											
RIMS2	9699	broad.mit.edu	37	chr8	105257203	105257203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacagaaacaggcctggccGtggaaatgaggaactggatg	15	7	0	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:105257203G>A	ENST00000507740.1	+	18	3072	c.2836G>A	c.(2836-2838)Gtg>Atg	p.V946M	RIMS2_ENST00000339750.2_Missense_Mutation_p.V68M|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1132M|RIMS2_ENST00000262231.10_Missense_Mutation_p.V971M|RIMS2_ENST00000436393.2_Missense_Mutation_p.V1150M	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1194					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGCCTGGCCGTGGAAATGAG	0.463										HNSCC(12;0.0054)			False	0	False	8:105257203	0	A	105257203	G	A	105257203	3	1	141	1	0	0	0	0	1	0	0	0	13447	1145	40	1	3668	1	RIMS2	8	105257203	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	35704520	105257203	41106819	73	33902											
ATAD2	29028	broad.mit.edu	37	chr8	124348766	124348766	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttattacagtgacataatCaggaacctaaaattcaagca	5	8	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:124348766C>A	ENST00000287394.5	-	22	3165	c.3058G>T	c.(3058-3060)Gat>Tat	p.D1020Y	ATAD2_ENST00000521903.1_Missense_Mutation_p.D338Y	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1020	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGACATAATCAGGAACCTAA	0.328													False	0	False	8:124348766	0	A	124348766	C	A	124348766	3	1	141	1	0	0	0	0	1	0	0	0	1075	826	29	3	1142	3	ATAD2	8	124348766	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	19091563	124348766	22015256	74	33903											
RNF38	152006	broad.mit.edu	37	chr9	36339793	36339793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcatcagctcggcaaaTtgggcaagtacgatttgcct	11	9	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:36339793T>C	ENST00000357058.3	-	12	1861	c.1255A>G	c.(1255-1257)Att>Gtt	p.I419V	RNF38_ENST00000259605.6_Missense_Mutation_p.I502V|RNF38_ENST00000353739.4_Missense_Mutation_p.I452V|RNF38_ENST00000377877.4_Missense_Mutation_p.I426V|RNF38_ENST00000377885.2_Missense_Mutation_p.I419V|RNF38_ENST00000350199.4_Missense_Mutation_p.I419V	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	502							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GCTCGGCAAATTGGGCAAGTA	0.378													False	0	True	9:36339793	0	C	36339793	T	C	36339793	3	2	141	1	0	0	0	0	1	0	0	0	13569	1493	52	4	47	4	RNF38	9	36339793	Missense_Mutation	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08		36339793	104873638	75	33904											
C9orf135	138255	broad.mit.edu	37	chr9	72471475	72471475	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttctatgtttccagatttGgacatcagaaacacatgaaa	7	8	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:72471475G>T	ENST00000377197.3	+	3	353	c.266G>T	c.(265-267)tGg>tTg	p.W89L	C9orf135_ENST00000527647.1_Missense_Mutation_p.W89L|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	89						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTCCAGATTTGGACATCAGAA	0.323													False	0	True	9:72471475	0	T	72471475	G	T	72471475	3	4	141	1	0	0	0	0	1	0	0	0	2478	1357	47	3	276	3	C9orf135	9	72471475	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	36131682	72471475	68741956	76	33905											
MAMDC2	256691	broad.mit.edu	37	chr9	72785470	72785470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcaggagaaaagaaaccGgagcagctggcacaggagga	14	8	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:72785470G>A	ENST00000377182.4	+	11	2191	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	MAMDC2-AS1_ENST00000448377.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2_ENST00000460688.1_3'UTR	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	525	MAM 4.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AAAAGAAACCGGAGCAGCTGG	0.498													False	0	False	9:72785470	0	A	72785470	G	A	72785470	3	1	141	1	0	0	0	0	1	0	0	0	9270	1116	39	1	1616	1	MAMDC2	9	72785470	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	313995	72785470	68427961	77	33906											
VPS13A	23230	broad.mit.edu	37	chr9	79966298	79966298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttttatacatgggctgatcCggtgggctctagaaggctga	14	7	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:79966298C>A	ENST00000360280.3	+	53	7615	c.7355C>A	c.(7354-7356)cCg>cAg	p.P2452Q	VPS13A_ENST00000357409.5_Missense_Mutation_p.P2452Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.P2452Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.P2413Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2452					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGGCTGATCCGGTGGGCTCT	0.433													False	0	False	9:79966298	0	A	79966298	C	A	79966298	3	1	141	1	0	0	0	0	1	0	0	0	17273	652	23	3	7565	3	VPS13A	9	79966298	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	7180828	79966298	61247133	78	33907											
TLE1	7088	broad.mit.edu	37	chr9	84208113	84208113	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgagcatgccgggggattcCgggtccgatgagggcgtcgg	20	10	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:84208113C>A	ENST00000376499.3	-	15	2472	c.1408G>T	c.(1408-1410)Gga>Tga	p.G470*		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	470					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CGGGGGATTCCGGGTCCGATG	0.592													False	0	True	9:84208113	0	A	84208113	C	A	84208113	4	1	141	1	0	0	0	0	0	1	0	0	16020	661	23	3	928	3	TLE1	9	84208113	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	4241815	84208113	57005318	79	33908											
CENPP	401541	broad.mit.edu	37	chr9	95099894	95099894	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttacatttcaacttgaatttCagattctggaaattcaggta	6	6	4	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:95099894C>A	ENST00000375587.3	+	3	876	c.361C>A	c.(361-363)Cag>Aag	p.Q121K		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	121					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						ACTTGAATTTCAGATTCTGGA	0.343													False	0	True	9:95099894	0	A	95099894	C	A	95099894	3	1	141	1	0	0	0	0	1	0	0	0	3263	827	29	3	371	3	CENPP	9	95099894	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	10891781	95099894	46113537	80	33909											
RABGAP1	23637	broad.mit.edu	37	chr9	125835869	125835869	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcagtgttctggtcaagatCatgtttgactatgggctcag	11	7	5	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:125835869C>A	ENST00000373647.4	+	16	2156	c.2022C>A	c.(2020-2022)atC>atA	p.I674I	RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_Silent_p.I13I	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	674	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGGTCAAGATCATGTTTGACT	0.438													False	0	False	9:125835869	0	A	125835869	C	A	125835869	2	1	141	1	0	0	0	0	0	0	0	1	13043	816	29	3		3	RABGAP1	9	125835869	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	30735975	125835869	15377562	81	33910											
DENND1A	57706	broad.mit.edu	37	chr9	126146178	126146178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgactccctgagtgtcCgatacggctgcggcctgtcg	13	13	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:126146178C>A	ENST00000373624.2	-	21	1793	c.1592G>T	c.(1591-1593)cGg>cTg	p.R531L	DENND1A_ENST00000542603.1_Missense_Mutation_p.R316L|DENND1A_ENST00000394219.3_Missense_Mutation_p.R542L|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	531						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CCTGAGTGTCCGATACGGCTG	0.662													False	0	False	9:126146178	0	A	126146178	C	A	126146178	3	1	141	1	0	0	0	0	1	0	0	0	4456	652	23	3	1445	3	DENND1A	9	126146178	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	310309	126146178	15067253	82	33911											
IDI1	3422	broad.mit.edu	37	chr10	1087287	1087287	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttcttttagttcttcctttGacacataacaatagctttta	4	8	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:1087287G>T	ENST00000381344.3	-	5	861	c.695C>A	c.(694-696)tCa>tAa	p.S232*	IDI2-AS1_ENST00000437374.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	175					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TTCTTCCTTTGACACATAACA	0.348													False	0	True	10:1087287	0	T	1087287	G	T	1087287	4	4	141	1	0	0	0	0	0	1	0	0	7549	1294	45	3	163	3	IDI1	10	1087287	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		1087287	134447460	83	33912											
BTAF1	9044	broad.mit.edu	37	chr10	93786913	93786913	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggttaacgtataccgattGataaccagaggaacattgga	11	6	0	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:93786913G>T	ENST00000265990.6	+	37	5570	c.5262G>T	c.(5260-5262)ttG>ttT	p.L1754F	BTAF1_ENST00000544642.1_Missense_Mutation_p.L582F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1754	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TATACCGATTGATAACCAGAG	0.378													False	0	False	10:93786913	0	T	93786913	G	T	93786913	3	4	141	1	0	0	0	0	1	0	0	0	1543	1281	45	3	5408	3	BTAF1	10	93786913	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	92699626	93786913	41747834	84	33913											
PDCD11	22984	broad.mit.edu	37	chr10	105203711	105203711	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accggatgctgaagcgtttcCggcaggagaaagctgtgtgg	16	8	0	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:105203711C>A	ENST00000369797.3	+	34	5258	c.5164C>A	c.(5164-5166)Cgg>Agg	p.R1722R		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1722					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAAGCGTTTCCGGCAGGAGAA	0.587													False	0	False	10:105203711	0	A	105203711	C	A	105203711	2	1	141	1	0	0	0	0	0	0	0	1	11685	643	23	3		3	PDCD11	10	105203711	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	11416798	105203711	30331036	85	33914											
ZFP91	80829	broad.mit.edu	37	chr11	58379764	58379764	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacaggagaggaagaagaCgaaaagatgacaaaagtcca	11	5	0	5			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:58379764C>T	ENST00000316059.6	+	7	1042	c.871C>T	c.(871-873)Cga>Tga	p.R291*	ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R291*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	291					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGGAAGAAGACGAAAAGATGA	0.418													False	0	False	11:58379764	0	T	58379764	C	T	58379764	4	4	141	1	0	0	0	0	0	1	0	0	17738	528	19	1	897	1	ZFP91	11	58379764	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08		58379764	76626752	86	33915											
CCDC88B	283234	broad.mit.edu	37	chr11	64111636	64111636	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccggcattagactcagtgctCgaggcatcagctgagtgtcc	12	12	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:64111636C>A	ENST00000356786.5	+	14	1667	c.1623C>A	c.(1621-1623)ctC>ctA	p.L541L	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	541					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTCAGTGCTCGAGGCATCAG	0.632													False	0	False	11:64111636	0	A	64111636	C	A	64111636	2	1	141	1	0	0	0	0	0	0	0	1	2885	871	31	3		3	CCDC88B	11	64111636	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	5731872	64111636	70894880	87	33916											
PPFIA1	8500	broad.mit.edu	37	chr11	70172768	70172768	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaattgagctccaagaaatCataagtaagcagtcaaggga	10	6	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:70172768C>A	ENST00000253925.7	+	7	989	c.774C>A	c.(772-774)atC>atA	p.I258I	AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.I258I	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	258					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCCAAGAAATCATAAGTAAGC	0.433													False	0	False	11:70172768	0	A	70172768	C	A	70172768	2	1	141	1	0	0	0	0	0	0	0	1	12378	816	29	3		3	PPFIA1	11	70172768	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	6061132	70172768	64833748	88	33917											
NADSYN1	55191	broad.mit.edu	37	chr11	71189504	71189504	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acagggcggagatttcatctCgaaacctggcggtgagtgct	14	9	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:71189504C>A	ENST00000319023.2	+	10	1050	c.862C>A	c.(862-864)Cga>Aga	p.R288R	NADSYN1_ENST00000539574.1_Silent_p.R28R	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	288	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GATTTCATCTCGAAACCTGGC	0.577													False	0	False	11:71189504	0	A	71189504	C	A	71189504	2	1	141	1	0	0	0	0	0	0	0	1	10205	876	31	3		3	NADSYN1	11	71189504	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	1016736	71189504	63817012	89	33918											
DCP1B	196513	broad.mit.edu	37	chr12	2062397	2062397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttcctgacatgtagcttTgtcctgcttcccaaacagag	8	11	0	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:2062397T>C	ENST00000280665.6	-	7	788	c.709A>G	c.(709-711)Aaa>Gaa	p.K237E	DCP1B_ENST00000397173.4_Missense_Mutation_p.K135E|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.K111E	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	237					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CATGTAGCTTTGTCCTGCTTC	0.488													False	0	True	12:2062397	0	C	2062397	T	C	2062397	3	2	141	1	0	0	0	0	1	0	0	0	4324	1821	63	4	1156	4	DCP1B	12	2062397	Missense_Mutation	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08		2062397	131789498	90	33919											
USP5	0	broad.mit.edu	37	chr12	6970156	6970156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcctaatgaagtgttcCgcttcttggtggaggaaaag	11	6	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:6970156C>A	ENST00000229268.8	+	12	1436	c.1384C>A	c.(1384-1386)Cgc>Agc	p.R462S	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.R462S	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	462					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	p.R462S(2)|p.R462C(1)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TGAAGTGTTCCGCTTCTTGGT	0.537													False	0	False	12:6970156	0	A	6970156	C	A	6970156	3	1	141	1	0	0	0	0	1	0	0	0	17165	652	23	3	1430	3	USP5	12	6970156	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	4907759	6970156	126881739	91	33920											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	141	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	18428128	25398284	108453611	92	33921											
FGD4	121512	broad.mit.edu	37	chr12	32778699	32778699	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacgaaggaggcatcattgtCgagcatgtggatatgtaagt	13	6	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:32778699C>A	ENST00000427716.2	+	14	2171	c.1747C>A	c.(1747-1749)Cga>Aga	p.R583R	FGD4_ENST00000534526.2_Silent_p.R720R|FGD4_ENST00000531134.1_Silent_p.R668R|FGD4_ENST00000266482.3_Silent_p.R335R|FGD4_ENST00000546442.1_Silent_p.R490R|FGD4_ENST00000525053.1_Silent_p.R695R	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	583					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GCATCATTGTCGAGCATGTGG	0.383													False	0	False	12:32778699	0	A	32778699	C	A	32778699	2	1	141	1	0	0	0	0	0	0	0	1	5875	876	31	3		3	FGD4	12	32778699	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	7380415	32778699	101073196	93	33922											
KRT18	3875	broad.mit.edu	37	chr12	53344192	53344192	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgctgatgactttagagtCaagtaagtttgggggctaga	14	5	1	4			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:53344192C>A	ENST00000550600.1	+	3	552	c.498C>A	c.(496-498)gtC>gtA	p.V166V	KRT18_ENST00000388835.3_Silent_p.V166V|KRT18_ENST00000388837.2_Silent_p.V166V			P05783	K1C18_HUMAN	keratin 18	166	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ACTTTAGAGTCAAGTAAGTTT	0.537													False	0	True	12:53344192	0	A	53344192	C	A	53344192	2	1	141	1	0	0	0	0	0	0	0	1	8505	813	29	3		3	KRT18	12	53344192	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	20565493	53344192	80507703	94	33923											
APPL2	55198	broad.mit.edu	37	chr12	105597519	105597519	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggaggataaaaagctgtcCatacgtttggaaaacatctc	9	8	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:105597519C>A	ENST00000258530.3	-	9	891	c.666G>T	c.(664-666)atG>atT	p.M222I	APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000551662.1_Missense_Mutation_p.M228I|APPL2_ENST00000539978.2_Missense_Mutation_p.M179I	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	222	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAAAGCTGTCCATACGTTTGG	0.418													False	0	False	12:105597519	0	A	105597519	C	A	105597519	3	1	141	1	0	0	0	0	1	0	0	0	820	594	21	3	1380	3	APPL2	12	105597519	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	52253327	105597519	28254376	95	33924											
SSH1	54434	broad.mit.edu	37	chr12	109212031	109212031	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcactgcttcttaccagcttGattctgtcttcgcaacgcag	7	13	4	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:109212031G>T	ENST00000326495.5	-	4	366	c.273C>A	c.(271-273)atC>atA	p.I91I	SSH1_ENST00000551165.1_Silent_p.I91I|SSH1_ENST00000546812.1_Intron|SSH1_ENST00000326470.5_Silent_p.I102I|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	91					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTACCAGCTTGATTCTGTCTT	0.418													False	0	False	12:109212031	0	T	109212031	G	T	109212031	2	4	141	1	0	0	0	0	0	0	0	1	15266	1280	45	3		3	SSH1	12	109212031	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	3614512	109212031	24639864	96	33925											
C12orf52	84934	broad.mit.edu	37	chr12	113624632	113624632	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgccgaggtggctaccgggtCaaggccaggacgtcatatgt	15	10	2	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:113624632C>T	ENST00000548278.1	+	3	773	c.81C>T	c.(79-81)gtC>gtT	p.V27V	C12orf52_ENST00000552495.1_Silent_p.V51V|C12orf52_ENST00000549621.1_Silent_p.V27V|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	27					negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GCTACCGGGTCAAGGCCAGGA	0.652													False	0	False	12:113624632	0	T	113624632	C	T	113624632	2	4	141	1	0	0	0	0	0	0	0	1	1706	813	29	2		2	C12orf52	12	113624632	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	4412601	113624632	20227263	97	33926											
ANAPC5	51433	broad.mit.edu	37	chr12	121773451	121773451	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccggtaagaatcagacgatCaaaataatggaggagactgt	11	6	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:121773451C>A	ENST00000261819.3	-	7	956	c.835G>T	c.(835-837)Gat>Tat	p.D279Y	ANAPC5_ENST00000441917.2_Missense_Mutation_p.D180Y|ANAPC5_ENST00000536366.1_Missense_Mutation_p.D158Y|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D279Y|ANAPC5_ENST00000344395.4_Missense_Mutation_p.D180Y	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	279					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATCAGACGATCAAAATAATGG	0.448													False	0	True	12:121773451	0	A	121773451	C	A	121773451	3	1	141	1	0	0	0	0	1	0	0	0	605	826	29	3	1476	3	ANAPC5	12	121773451	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	8148819	121773451	12078444	98	33927											
PITPNM2	57605	broad.mit.edu	37	chr12	123494616	123494616	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacagggtctttgacaatgtCgatgaagtctgtgggtaaac	12	7	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:123494616C>A	ENST00000280562.5	-	5	629	c.424G>T	c.(424-426)Gac>Tac	p.D142Y	PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000542749.1_Missense_Mutation_p.D142Y|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D142Y|PITPNM2_ENST00000546049.1_Missense_Mutation_p.D142Y|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	142					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TTGACAATGTCGATGAAGTCT	0.567													False	0	False	12:123494616	0	A	123494616	C	A	123494616	3	1	141	1	0	0	0	0	1	0	0	0	12020	884	31	3	3709	3	PITPNM2	12	123494616	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	1721165	123494616	10357279	99	33928											
PUS1	80324	broad.mit.edu	37	chr12	132426520	132426520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcacggcaggtggcacgGgcgccaaggtaggggcacag	17	12	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:132426520G>A	ENST00000542167.2	+	4	1822	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S	PUS1_ENST00000440818.2_Missense_Mutation_p.G382S|PUS1_ENST00000376649.3_Missense_Mutation_p.G410S|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Missense_Mutation_p.G382S			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	410						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AGGTGGCACGGGCGCCAAGGT	0.612													False	0	True	12:132426520	0	A	132426520	G	A	132426520	3	1	141	1	0	0	0	0	1	0	0	0	12909	1232	43	2	1246	2	PUS1	12	132426520	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	8931904	132426520	1425375	100	33929											
ZNF605	100289635	broad.mit.edu	37	chr12	133502222	133502222	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ataggttttctctcctgtgtGatttctttgatgcttaatga	8	6	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:133502222G>T	ENST00000360187.4	-	5	2011	c.1663C>A	c.(1663-1665)Cac>Aac	p.H555N	ZNF605_ENST00000392321.3_Missense_Mutation_p.H586N	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		TCTCCTGTGTGATTTCTTTGA	0.418													False	0	True	12:133502222	0	T	133502222	G	T	133502222	3	4	141	1	0	0	0	0	1	0	0	0	18114	1290	45	3	266	3	ZNF605	12	133502222	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	1075702	133502222	349673	101	33930											
SGCG	6445	broad.mit.edu	37	chr13	23869565	23869565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtttagggcctgaagggGctctttttgaacattcagtg	12	6	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:23869565G>A	ENST00000218867.3	+	6	641	c.517G>A	c.(517-519)Gct>Act	p.A173T	SGCG_ENST00000537476.1_Missense_Mutation_p.A173T|SGCG_ENST00000545013.1_Missense_Mutation_p.A173T	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	173					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GCCTGAAGGGGCTCTTTTTGA	0.373													False	0	True	13:23869565	0	A	23869565	G	A	23869565	3	1	141	1	0	0	0	0	1	0	0	0	14284	1203	42	2	535	2	SGCG	13	23869565	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		23869565	91300313	102	33931											
HTR2A	3356	broad.mit.edu	37	chr13	47409499	47409499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctccctatggatcgaccGctggaagagcttttctgaag	12	10	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:47409499G>A	ENST00000378688.4	-	3	1020	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	HTR2A_ENST00000542664.1_Missense_Mutation_p.R297W|HTR2A_ENST00000543956.1_Missense_Mutation_p.R213W			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	297					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGGATCGACCGCTGGAAGAGC	0.502													False	0	False	13:47409499	0	A	47409499	G	A	47409499	3	1	141	1	0	0	0	0	1	0	0	0	7491	1086	38	1	530	1	HTR2A	13	47409499	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	23539934	47409499	67760379	103	33932											
ATP7B	540	broad.mit.edu	37	chr13	52548807	52548807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggctgataagtgatgacGgcctcttggttgctgagtga	14	6	1	5			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:52548807G>A	ENST00000242839.4	-	2	705	c.549C>T	c.(547-549)gcC>gcT	p.A183A	ATP7B_ENST00000400370.3_Silent_p.A183A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Silent_p.A151A|ATP7B_ENST00000418097.2_Silent_p.A183A|ATP7B_ENST00000344297.5_Silent_p.A183A|ATP7B_ENST00000448424.2_Silent_p.A183A|ATP7B_ENST00000400366.3_Silent_p.A183A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	183	HMA 2.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AAGTGATGACGGCCTCTTGGT	0.512									Wilson disease				False	0	False	13:52548807	0	A	52548807	G	A	52548807	2	1	141	1	0	0	0	0	0	0	0	1	1195	1103	39	1		1	ATP7B	13	52548807	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	5139308	52548807	62621071	104	33933											
TGDS	23483	broad.mit.edu	37	chr13	95246123	95246123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatttatgatcatatagtttGgataatcttccactaaagag	7	5	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:95246123G>T	ENST00000261296.5	-	2	245	c.125C>A	c.(124-126)cCa>cAa	p.P42Q	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	42					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CATATAGTTTGGATAATCTTC	0.274													False	0	True	13:95246123	0	T	95246123	G	T	95246123	3	4	141	1	0	0	0	0	1	0	0	0	15896	1348	47	3	971	3	TGDS	13	95246123	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	42697316	95246123	19923755	105	33934											
PROZ	8858	broad.mit.edu	37	chr13	113826319	113826319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggctcctggtttctcaCgggggtcctgggctcgcagc	15	13	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:113826319C>T	ENST00000342783.4	+	9	1176	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	PROZ_ENST00000375547.2_Missense_Mutation_p.T368M	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	368	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGGTTTCTCACGGGGGTCCTG	0.562													False	0	True	13:113826319	0	T	113826319	C	T	113826319	3	4	141	1	0	0	0	0	1	0	0	0	12638	536	19	1	1133	1	PROZ	13	113826319	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	18580196	113826319	1343559	106	33935											
MYH7	4625	broad.mit.edu	37	chr14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatccagttgaacatcCtctcatacactgccttggcc	5	16	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542													False	0	False	14:23898270	0	T	23898270	C	T	23898270	3	4	141	1	0	0	0	0	1	0	0	0	10106	681	24	2	4614	2	MYH7	14	23898270	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08		23898270	83451270	107	33936											
RABGGTA	5875	broad.mit.edu	37	chr14	24737795	24737795	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtatgttggggcaactggtCgttgagggaggcagcaggca	18	6	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:24737795C>A	ENST00000399409.3	-	9	1414	c.931G>T	c.(931-933)Gac>Tac	p.D311Y	RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000216840.6_Missense_Mutation_p.D311Y	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	311					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGCAACTGGTCGTTGAGGGAG	0.557													False	0	False	14:24737795	0	A	24737795	C	A	24737795	3	1	141	1	0	0	0	0	1	0	0	0	13046	884	31	3	804	3	RABGGTA	14	24737795	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	839525	24737795	82611745	108	33937											
MLH3	27030	broad.mit.edu	37	chr14	75515338	75515338	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaacattttcactccttcctGaatgcaaaacaagagagtgt	6	9	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:75515338G>T	ENST00000355774.2	-	2	1236	c.1021C>A	c.(1021-1023)Cag>Aag	p.Q341K	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.Q341K|MLH3_ENST00000556740.1_Missense_Mutation_p.Q341K|MLH3_ENST00000556257.1_Missense_Mutation_p.Q341K	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	341					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACTCCTTCCTGAATGCAAAAC	0.343								Mismatch excision repair (MMR)					False	0	True	14:75515338	0	T	75515338	G	T	75515338	3	4	141	1	0	0	0	0	1	0	0	0	9685	1299	45	3	3388	3	MLH3	14	75515338	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	50777543	75515338	31834202	109	33938											
TYRO3	7301	broad.mit.edu	37	chr15	41861221	41861222	+	Splice_Site	INS	-	-	CC													tcttctcatgaccgtgcaggINStgaggcttgtaggtggagag							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:41861221_41861222insCC	ENST00000263798.3	+	9	1476		c.e9+1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase							integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GACCGTGCAGGTGAGGCTTGTA	0.564													False	0	False	15:41861221	0	CC	41861222	-	CC	41861221	8	5	141	1	0	1	1	0	0	0	1	0	16898	1275	44	0	1287	0	TYRO3	15	41861221	Splice_Site	INS	-	TCGA-XN-A8T3-01A-11D-A36O-08		41861221	60670171	110	33939											
CCPG1	9236	broad.mit.edu	37	chr15	55657508	55657508	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctgaatctgaattgtgcCtaaaataaatatttttatta	4	5	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:55657508C>A	ENST00000310958.6	-	7	1005		c.e7-1		CCPG1_ENST00000442196.3_Splice_Site|CCPG1_ENST00000569205.1_Splice_Site|CCPG1_ENST00000425574.3_Splice_Site|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1						cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TGAATTGTGCCtaaaataaat	0.274													False	0	False	15:55657508	0	A	55657508	C	A	55657508	5	1	141	1	0	0	0	0	0	0	1	0	2961	695	24	3	1575	3	CCPG1	15	55657508	Splice_Site	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	13796287	55657508	46873884	111	33940											
HYDIN	54768	broad.mit.edu	37	chr16	70843895	70843895	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctttcaggggctgaaattCaaatgagaacgtgccctgga	12	8	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:70843895C>A	ENST00000393567.2	-	85	14824	c.14674G>T	c.(14674-14676)Gaa>Taa	p.E4892*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4892										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGCTGAAATTCAAATGAGAAC	0.483													False	0	True	16:70843895	0	A	70843895	C	A	70843895	4	1	141	1	0	0	0	0	0	1	0	0	7517	835	29	3	699	3	HYDIN	16	70843895	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08		70843895	19510858	112	33941											
USP6	9098	broad.mit.edu	37	chr17	5037246	5037247	+	Frame_Shift_Ins	INS	-	-	GG													atcgacctggacgtgaggacINSgactctccggaaccatgtct							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:5037246_5037247insGG	ENST00000574788.1	+	15	2679_2680	c.449_450insGG	c.(448-453)acgactfs	p.T151fs	USP6_ENST00000250066.6_Frame_Shift_Ins_p.T151fs|USP6_ENST00000332776.4_Frame_Shift_Ins_p.T151fs|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	151	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GACGTGAGGACGACTCTCCGGA	0.564			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								False	1	False	17:5037246	0	GG	5037247	-	GG	5037246	7	5	141	1	0	1	1	0	0	0	0	0	17170	536	19	0	471	0	USP6	17	5037246	Frame_Shift_Ins	INS	-	TCGA-XN-A8T3-01A-11D-A36O-08		5037246	76157964	113	33942											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			False	0	False	17:7577121	0	A	7577121	G	A	7577121	3	1	141	1	0	0	0	0	1	0	0	0	16464	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	2539875	7577121	73618089	114	33943											
NCOR1	9611	broad.mit.edu	37	chr17	15978856	15978856	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacaatacttactatcatatGacaagatatgtccacttttg	4	8	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:15978856G>T	ENST00000268712.3	-	27	3919	c.3662C>A	c.(3661-3663)tCa>tAa	p.S1221*	NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S1237*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1221	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACTATCATATGACAAGATATG	0.423													False	0	False	17:15978856	0	T	15978856	G	T	15978856	4	4	141	1	0	0	0	0	0	1	0	0	10303	1294	45	3	3740	3	NCOR1	17	15978856	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	8401735	15978856	65216354	115	33944											
C17orf66	256957	broad.mit.edu	37	chr17	34182158	34182158	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcctatgttttcgtggtttcGagcagcacggtgggaaagca	14	8	0	0	rs114102494	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:34182158G>T	ENST00000311880.2	-	15	1770	c.1622C>A	c.(1621-1623)tCg>tAg	p.S541*	C17orf66_ENST00000592980.1_Nonsense_Mutation_p.S501*	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	541							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCGTGGTTTCGAGCAGCACGG	0.478													False	0	False	17:34182158	0	T	34182158	G	T	34182158	4	4	141	1	0	0	0	0	0	1	0	0	1886	1059	37	3	94	3	C17orf66	17	34182158	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	18203302	34182158	47013052	116	33945											
KRT20	54474	broad.mit.edu	37	chr17	39034482	39034482	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcaagaaggatatggtattCgttgttctggcgttccatgt	12	6	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:39034482C>A	ENST00000167588.3	-	6	1095	c.1054G>T	c.(1054-1056)Gaa>Taa	p.E352*		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	352	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				ATATGGTATTCGTTGTTCTGG	0.493													False	0	False	17:39034482	0	A	39034482	C	A	39034482	4	1	141	1	0	0	0	0	0	1	0	0	8508	893	31	3	232	3	KRT20	17	39034482	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	4852324	39034482	42160728	117	33946											
KRTAP9-9	81870	broad.mit.edu	37	chr17	39412064	39412064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccctgctgccgccccGcctgctgtgagaccacctgc	11	20	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:39412064G>A	ENST00000394008.1	+	1	429	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	143						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCGCCCCGCCTGCTGTGA	0.612													False	0	True	17:39412064	0	A	39412064	G	A	39412064	3	1	141	1	0	0	0	0	1	0	0	0	8628	1087	38	1	429	1	KRTAP9-9	17	39412064	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	377582	39412064	41783146	118	33947											
MPP3	4356	broad.mit.edu	37	chr17	41886383	41886383	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcgtttttcttttttcctGaattgcaggctttacaaata	7	7	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:41886383G>T	ENST00000398393.1	-	17	1857	c.1597C>A	c.(1597-1599)Cag>Aag	p.Q533K	MPP3_ENST00000398389.4_Missense_Mutation_p.Q508K			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	508	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTTTTTTCCTGAATTGCAGGC	0.378													False	0	False	17:41886383	0	T	41886383	G	T	41886383	3	4	141	1	0	0	0	0	1	0	0	0	9802	1299	45	3	243	3	MPP3	17	41886383	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	2474319	41886383	39308827	119	33948											
MAP2K6	5608	broad.mit.edu	37	chr17	67519707	67519707	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcggtcaagtgaagatgtgCgattttggaatcagtggcta	13	6	2	2	rs143627401		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:67519707C>A	ENST00000590474.1	+	8	875	c.588C>A	c.(586-588)tgC>tgA	p.C196*	MAP2K6_ENST00000589647.1_Nonsense_Mutation_p.C140*	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	196	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TGAAGATGTGCGATTTTGGAA	0.448													False	0	False	17:67519707	0	A	67519707	C	A	67519707	4	1	141	1	0	0	0	0	0	1	0	0	9308	776	27	3	618	3	MAP2K6	17	67519707	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	25633324	67519707	13675503	120	33949											
AFG3L2	10939	broad.mit.edu	37	chr18	12363818	12363818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcctggtgtaaaggtcactCgaacaaaacgcttgttgacg	10	9	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr18:12363818C>A	ENST00000269143.3	-	6	821	c.590G>T	c.(589-591)cGa>cTa	p.R197L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	197					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.R197L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AAAGGTCACTCGAACAAAACG	0.303													False	0	False	18:12363818	0	A	12363818	C	A	12363818	3	1	141	1	0	0	0	0	1	0	0	0	360	884	31	3	1851	3	AFG3L2	18	12363818	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08		12363818	65713430	121	33950											
SPIRE1	56907	broad.mit.edu	37	chr18	12535496	12535496	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttcgcactcttaattttGgtcagaaatgtatggagctc	8	8	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr18:12535496G>T	ENST00000409402.4	-	4	975	c.708C>A	c.(706-708)acC>acA	p.T236T	SPIRE1_ENST00000383356.2_Silent_p.T77T|SPIRE1_ENST00000309836.5_Silent_p.T39T|SPIRE1_ENST00000453447.2_Silent_p.T116T|SPIRE1_ENST00000410092.3_Silent_p.T236T	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	236						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TCTTAATTTTGGTCAGAAATG	0.393													False	0	True	18:12535496	0	T	12535496	G	T	12535496	2	4	141	1	0	0	0	0	0	0	0	1	15153	1335	47	3		3	SPIRE1	18	12535496	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	171678	12535496	65541752	122	33951											
ZNF442	79973	broad.mit.edu	37	chr19	12461420	12461420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagatgatgaaatgctttccCgcattgcttgcattcatagg	9	9	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:12461420C>A	ENST00000242804.4	-	6	1561	c.979G>T	c.(979-981)Ggg>Tgg	p.G327W	ZNF442_ENST00000438182.1_Missense_Mutation_p.G258W	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AATGCTTTCCCGCATTGCTTG	0.418													False	0	True	19:12461420	0	A	12461420	C	A	12461420	3	1	141	1	0	0	0	0	1	0	0	0	17998	652	23	3	908	3	ZNF442	19	12461420	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08		12461420	46667563	123	33952											
ZNF30	90075	broad.mit.edu	37	chr19	35434709	35434709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atacctggttcaacatcagcGaattcataccagtgaaaaac	6	10	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:35434709G>T	ENST00000439785.1	+	5	1286	c.842G>T	c.(841-843)cGa>cTa	p.R281L	ZNF30_ENST00000303586.7_Missense_Mutation_p.R281L|ZNF30_ENST00000426813.2_Missense_Mutation_p.R199L|ZNF30_ENST00000601142.1_Missense_Mutation_p.R280L|ZNF30_ENST00000601957.1_3'UTR	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CAACATCAGCGAATTCATACC	0.473													False	0	False	19:35434709	0	T	35434709	G	T	35434709	3	4	141	1	0	0	0	0	1	0	0	0	17913	1058	37	3	856	3	ZNF30	19	35434709	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	22973289	35434709	23694274	124	33953											
ZNF461	92283	broad.mit.edu	37	chr19	37130742	37130742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatgggcatgttttcatGgttaatcataagttgtctaa	8	4	3	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:37130742G>T	ENST00000588268.1	-	6	732	c.505C>A	c.(505-507)Cat>Aat	p.H169N	ZNF461_ENST00000360357.4_Missense_Mutation_p.H146N|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATGTTTTCATGGTTAATCATA	0.358													False	0	False	19:37130742	0	T	37130742	G	T	37130742	3	4	141	1	0	0	0	0	1	0	0	0	18008	1348	47	3	1190	3	ZNF461	19	37130742	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	1696033	37130742	21998241	125	33954											
ZNF160	90338	broad.mit.edu	37	chr19	53577428	53577428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacacattccggcgttcttGgttttcttgctattttcaca	7	10	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53577428G>T	ENST00000601421.1	-	2	1004	c.128C>A	c.(127-129)cCa>cAa	p.P43Q	ZNF160_ENST00000355147.5_Missense_Mutation_p.P79Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000429604.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000599056.1_Missense_Mutation_p.P79Q			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	79	KRAB.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CGGCGTTCTTGGTTTTCTTGC	0.473													False	0	False	19:53577428	0	T	53577428	G	T	53577428	3	4	141	1	0	0	0	0	1	0	0	0	17822	1348	47	3	2228	3	ZNF160	19	53577428	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	16446686	53577428	5551555	126	33955											
ZNF761	388561	broad.mit.edu	37	chr19	53958280	53958280	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgtccacgatgcttccttGgtttcaacagcccaaagaat	7	12	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53958280G>T	ENST00000454407.1	+	0	972							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATGCTTCCTTGGTTTCAACAG	0.383													False	0	False	19:53958280	0	T	53958280	G	T	53958280	1	4	141	0	1	0	0	0	0	0	0	0	18218	1339	47	3		3	ZNF761	19	53958280	RNA	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	380852	53958280	5170703	127	33956											
ZNF471	57573	broad.mit.edu	37	chr19	57035792	57035792	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tagctatggacttgagtgttCcacttttgaagaaaattgga	10	5	0	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:57035792C>A	ENST00000308031.5	+	5	489	c.356C>A	c.(355-357)tCc>tAc	p.S119Y	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S119F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CTTGAGTGTTCCACTTTTGAA	0.378													False	0	False	19:57035792	0	A	57035792	C	A	57035792	3	1	141	1	0	0	0	0	1	0	0	0	18013	855	30	3	370	3	ZNF471	19	57035792	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	3077512	57035792	2093191	128	33957											
ZNF772	400720	broad.mit.edu	37	chr19	57985561	57985561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggtgaaggtttgcaCtgaagcagaactgtttccca	13	8	0	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:57985561C>T	ENST00000343280.4	-	5	811	c.551G>A	c.(550-552)aGt>aAt	p.S184N	AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.S143N|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.S72N	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		AAGGTTTGCACTGAAGCAGAA	0.483													False	0	False	19:57985561	0	T	57985561	C	T	57985561	3	4	141	1	0	0	0	0	1	0	0	0	18227	565	20	2	922	2	ZNF772	19	57985561	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	949769	57985561	1143422	129	33958											
C20orf24	55969	broad.mit.edu	37	chr20	35236149	35236149	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agatgtgatctactggttccGacagatcattgctgtggtcc	11	9	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:35236149G>T	ENST00000344795.3	+	2	364	c.146G>T	c.(145-147)cGa>cTa	p.R49L	TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R75L|C20orf24_ENST00000342422.3_Missense_Mutation_p.R49L|C20orf24_ENST00000373852.5_Missense_Mutation_p.R49L	NM_001199534.1|NM_018840.4	NP_001186463.1|NP_061328.1			chromosome 20 open reading frame 24									p.R49L(2)		breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TACTGGTTCCGACAGATCATT	0.423													False	0	False	20:35236149	0	T	35236149	G	T	35236149	3	4	141	1	0	0	0	0	1	0	0	0	2121	1058	37	3	152	3	C20orf24	20	35236149	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		35236149	27789371	130	33959											
MYBL2	4605	broad.mit.edu	37	chr20	42338663	42338663	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccccacacgccaaccccgttCaagaacgccctggagaagta	8	17	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:42338663C>A	ENST00000217026.4	+	10	1693	c.1566C>A	c.(1564-1566)ttC>ttA	p.F522L	MYBL2_ENST00000396863.4_Missense_Mutation_p.F498L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	522						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAACCCCGTTCAAGAACGCCC	0.587													False	0	False	20:42338663	0	A	42338663	C	A	42338663	3	1	141	1	0	0	0	0	1	0	0	0	10077	825	29	3	1604	3	MYBL2	20	42338663	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	7102514	42338663	20686857	131	33960											
BRWD1	54014	broad.mit.edu	37	chr21	40582011	40582011	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagggctgtcataatttccCgcatctagagtttcccttac	7	11	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr21:40582011C>A	ENST00000342449.3	-	36	4185	c.4107G>T	c.(4105-4107)gcG>gcT	p.A1369A	BRWD1_ENST00000333229.2_Silent_p.A1369A|BRWD1_ENST00000380800.3_Silent_p.A1369A	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1369	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CATAATTTCCCGCATCTAGAG	0.343													False	0	True	21:40582011	0	A	40582011	C	A	40582011	2	1	141	1	0	0	0	0	0	0	0	1	1532	639	23	3		3	BRWD1	21	40582011	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08		40582011	7547884	132	33961											
PKNOX1	5316	broad.mit.edu	37	chr21	44448897	44448897	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacaaagaaaaaaactgctCagaaccggccagttcagagg	9	9	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr21:44448897C>A	ENST00000291547.5	+	10	1223	c.1012C>A	c.(1012-1014)Cag>Aag	p.Q338K	PKNOX1_ENST00000607150.1_3'UTR|PKNOX1_ENST00000432907.2_Missense_Mutation_p.Q221K	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	338							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AAAAACTGCTCAGAACCGGCC	0.502													False	0	False	21:44448897	0	A	44448897	C	A	44448897	3	1	141	1	0	0	0	0	1	0	0	0	12051	827	29	3	1046	3	PKNOX1	21	44448897	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	3866886	44448897	3680998	133	33962											
TUBA8	51807	broad.mit.edu	37	chr22	18606952	18606952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggaacctaccgccagCtcttccatccagagcagctg	11	15	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:18606952C>T	ENST00000330423.3	+	3	329	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	TUBA8_ENST00000316027.6_Missense_Mutation_p.L20F	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	86					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTACCGCCAGCTCTTCCATCC	0.582													False	0	False	22:18606952	0	T	18606952	C	T	18606952	3	4	141	1	0	0	0	0	1	0	0	0	16834	797	28	2	266	2	TUBA8	22	18606952	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08		18606952	32697614	134	33963											
ZNF280A	129025	broad.mit.edu	37	chr22	22868515	22868515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaacccttgcagttgctcCggctttttaaatgtttgatg	11	8	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:22868515C>T	ENST00000302097.3	-	2	1692	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GCAGTTGCTCCGGCTTTTTAA	0.443													False	0	False	22:22868515	0	T	22868515	C	T	22868515	2	4	141	1	0	0	0	0	0	0	0	1	17897	639	23	1		1	ZNF280A	22	22868515	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	4261563	22868515	28436051	135	33964											
CCDC157	550631	broad.mit.edu	37	chr22	30766541	30766541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactcccagaccattgagaCggccctggtgccctgtgacg	11	16	0	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:30766541C>T	ENST00000405659.1	+	5	1356	c.647C>T	c.(646-648)aCg>aTg	p.T216M	CCDC157_ENST00000338306.3_Missense_Mutation_p.T216M			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	216										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						ACCATTGAGACGGCCCTGGTG	0.622													False	0	False	22:30766541	0	T	30766541	C	T	30766541	3	4	141	1	0	0	0	0	1	0	0	0	2810	536	19	1	657	1	CCDC157	22	30766541	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	7898026	30766541	20538025	136	33965											
CSF2RB	1439	broad.mit.edu	37	chr22	37333569	37333569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccccagccaggcccGcctgccgcctcccacacacc	7	26	0	0	rs140662059		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:37333569G>A	ENST00000262825.5	+	14	1954	c.1737G>A	c.(1735-1737)ccG>ccA	p.P579P	CSF2RB_ENST00000406230.1_Silent_p.P579P|CSF2RB_ENST00000536485.1_Silent_p.P520P|CSF2RB_ENST00000403662.3_Silent_p.P573P	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	573					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGCCAGGCCCGCCTGCCGCCT	0.647													False	0	True	22:37333569	0	A	37333569	G	A	37333569	2	1	141	1	0	0	0	0	0	0	0	1	3960	1074	38	1		1	CSF2RB	22	37333569	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	6567028	37333569	13970997	137	33966											
C22orf23	84645	broad.mit.edu	37	chr22	38343336	38343336	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgtaggccccattggcttGacacatgttggcaggccgga	14	11	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:38343336G>T	ENST00000249079.2	-	4	557	c.301C>A	c.(301-303)Caa>Aaa	p.Q101K	C22orf23_ENST00000403305.1_Missense_Mutation_p.Q101K|C22orf23_ENST00000403026.1_Missense_Mutation_p.Q101K			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	101										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CCATTGGCTTGACACATGTTG	0.597													False	0	False	22:38343336	0	T	38343336	G	T	38343336	3	4	141	1	0	0	0	0	1	0	0	0	2153	1299	45	3	368	3	C22orf23	22	38343336	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	1009767	38343336	12961230	138	33967											
SMC1B	27127	broad.mit.edu	37	chr22	45765841	45765841	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttataaaaataccttttttGatcaatttcttgttgccgtt	4	6	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:45765841G>T	ENST00000357450.4	-	15	2412	c.2413C>A	c.(2413-2415)Caa>Aaa	p.Q805K	SMC1B_ENST00000404354.3_Missense_Mutation_p.Q805K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	805					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACCTTTTTTGATCAATTTCT	0.294													False	0	True	22:45765841	0	T	45765841	G	T	45765841	3	4	141	1	0	0	0	0	1	0	0	0	14862	1299	45	3	1338	3	SMC1B	22	45765841	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	7422505	45765841	5538725	139	33968											
STS	412	broad.mit.edu	37	chrX	7268006	7268006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggatgctttgccacacacGtgtgcttctgtttcgggagt	12	10	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:7268006G>A	ENST00000217961.4	+	10	1676	c.1456G>A	c.(1456-1458)Gtg>Atg	p.V486M		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	486					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TGCCACACACGTGTGCTTCTG	0.488									Ichthyosis				False	0	True	X:7268006	0	A	7268006	G	A	7268006	3	1	141	1	0	0	0	0	1	0	0	0	15414	1145	40	1	1494	1	STS	23	7268006	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		7268006	148002554	140	33969											
LUZP4	51213	broad.mit.edu	37	chrX	114540856	114540856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaatcagaaggaaatccGgacaaatcagaagaatccca	7	10	3	3	rs148942179		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:114540856G>A	ENST00000371920.3	+	4	436	c.429G>A	c.(427-429)ccG>ccA	p.P143P	LUZP4_ENST00000451986.2_Silent_p.P61P	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	143						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AAGGAAATCCGGACAAATCAG	0.473													False	0	False	X:114540856	0	A	114540856	G	A	114540856	2	1	141	1	0	0	0	0	0	0	0	1	9150	1103	39	1		1	LUZP4	23	114540856	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	107272850	114540856	40729704	141	33970											
SLITRK4	139065	broad.mit.edu	37	chrX	142716900	142716900	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtccatcttttttattGgttttgtggtcatgcttcct	7	9	3	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:142716900G>T	ENST00000381779.4	-	2	2250	c.2025C>A	c.(2023-2025)acC>acA	p.T675T	SLITRK4_ENST00000356928.1_Silent_p.T675T|SLITRK4_ENST00000338017.4_Silent_p.T675T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	675						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTTTATTGGTTTTGTGGT	0.483													False	0	False	X:142716900	0	T	142716900	G	T	142716900	2	4	141	1	0	0	0	0	0	0	0	1	14825	1335	47	3		3	SLITRK4	23	142716900	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	28176044	142716900	12553660	142	33971											
CD99L2	83692	broad.mit.edu	37	chrX	149983362	149983362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctatacccggtttcctgcGgccatcatcttgatcatcca	6	15	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:149983362G>T	ENST00000370377.3	-	4	367	c.250C>A	c.(250-252)Cgc>Agc	p.R84S	CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Missense_Mutation_p.R84S	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	84					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTTCCTGCGGCCATCATCT	0.453													False	0	False	X:149983362	0	T	149983362	G	T	149983362	3	4	141	1	0	0	0	0	1	0	0	0	3074	1116	39	3	570	3	CD99L2	23	149983362	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	7266462	149983362	5287198	143	33972											
CROCC	9696	broad.mit.edu	37	chr1	17266463	17266463	+	Silent	SNP	C	C	T													cagcttagcgacagcgagagCgagcggcgggccctagagga							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:17266463C>T	ENST00000375541.5	+	13	1752	c.1683C>T	c.(1681-1683)agC>agT	p.S561S	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	561					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACAGCGAGAGCGAGCGGCGGG	0.692													False	0	True	1:17266463	0	T	17266463	C	T	17266463	2	4	142	1	0	0	0	0	0	0	0	1	3916	767	27	1		1	CROCC	1	17266463	Silent	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08		17266463	231984158	1	33973	388	2									
CROCC	9696	broad.mit.edu	37	chr1	17266471	17266471	+	Missense_Mutation	SNP	G	G	A													cgacagcgagagcgagcggcGggccctagaggaacagctgc							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:17266471G>A	ENST00000375541.5	+	13	1760	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	564					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCGAGCGGCGGGCCCTAGAG	0.706													False	0	True	1:17266471	0	A	17266471	G	A	17266471	3	1	142	1	0	0	0	0	1	0	0	0	3916	1116	39	1	1741	1	CROCC	1	17266471	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	8	17266471	231984150	2	33974	388	2									
CCDC30	728621	broad.mit.edu	37	chr1	43102964	43102964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcaaaaagtcaagtatcGtttaactaatgaagtagaac	7	6	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:43102964G>A	ENST00000428554.2	+	18	2696	c.1553G>A	c.(1552-1554)cGt>cAt	p.R518H	CCDC30_ENST00000342022.4_Missense_Mutation_p.R518H|CCDC30_ENST00000507855.1_Missense_Mutation_p.R307H|CCDC30_ENST00000340612.4_Missense_Mutation_p.R518H|CCDC30_ENST00000390640.4_Missense_Mutation_p.R307H			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	518										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GTCAAGTATCGTTTAACTAAT	0.289													False	0	True	1:43102964	0	A	43102964	G	A	43102964	3	1	142	1	0	0	0	0	1	0	0	0	2826	1145	40	1	1591	1	CCDC30	1	43102964	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	25836493	43102964	206147657	3	33975											
NBPF9	400818	broad.mit.edu	37	chr1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A													agtcttgcaggactcactggGtagatggtattcgactcctt					rs558823		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493													False	0	True	1:144825409	0	A	144825409	G	A	144825409	3	1	142	1	0	0	0	0	1	0	0	0	10267	1261	44	2	2195	2	NBPF9	1	144825409	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	101722445	144825409	104425212	4	33976	389	2									
NBPF9	400818	broad.mit.edu	37	chr1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T													caggactcactgggtagatgGtattcgactccttcaggtta							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498													False	0	False	1:144825416	0	T	144825416	G	T	144825416	3	4	142	1	0	0	0	0	1	0	0	0	10267	1270	44	3	2202	3	NBPF9	1	144825416	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	7	144825416	104425205	5	33977	389	2									
NBPF9	400818	broad.mit.edu	37	chr1	144828545	144828545	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctccttttccaggctcAacggcgtgctgatggaagtg	12	10	2	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:144828545A>T	ENST00000338347.4	+	14	1591	c.1591A>T	c.(1591-1593)Aac>Tac	p.N531Y	NBPF9_ENST00000440491.2_Silent_p.S604S|NBPF9_ENST00000281815.8_Missense_Mutation_p.N129Y|NBPF9_ENST00000468645.1_3'UTR					neuroblastoma breakpoint family, member 9									p.N531Y(1)		NS(2)|prostate(1)	3						TTCCAGGCTCAACGGCGTGCT	0.453													False	0	False	1:144828545	0	T	144828545	A	T	144828545	3	4	142	1	0	0	0	0	1	0	0	0	10267	130	5	5	2666	5	NBPF9	1	144828545	Missense_Mutation	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08	3129	144828545	104422076	6	33978											
ANKRD35	148741	broad.mit.edu	37	chr1	145567068	145567068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagatcatctccacctaCaggaatcatctactgaatgc	7	11	4	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:145567068C>T	ENST00000355594.4	+	12	3003	c.2916C>T	c.(2914-2916)taC>taT	p.Y972Y		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	972										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTCCACCTACAGGAATCATC	0.478													False	0	False	1:145567068	0	T	145567068	C	T	145567068	2	4	142	1	0	0	0	0	0	0	0	1	664	489	17	2		2	ANKRD35	1	145567068	Silent	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	738523	145567068	103683553	7	33979											
CD1D	912	broad.mit.edu	37	chr1	158152716	158152716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagtcctggccctggccGtctgctgctggtgtgccatg	13	16	1	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:158152716G>A	ENST00000368171.3	+	5	1155	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	219	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGCCCTGGCCGTCTGCTGCTG	0.592													False	0	False	1:158152716	0	A	158152716	G	A	158152716	3	1	142	1	0	0	0	0	1	0	0	0	3000	1145	40	1	670	1	CD1D	1	158152716	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	12585648	158152716	91097905	8	33980											
PAPPA2	60676	broad.mit.edu	37	chr1	176526097	176526097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgggcagggagactcCggtatctcttcacatttcca	11	10	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:176526097C>T	ENST00000367662.3	+	2	1803	c.639C>T	c.(637-639)tcC>tcT	p.S213S	PAPPA2_ENST00000367661.3_Silent_p.S213S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	213					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGGGAGACTCCGGTATCTCTT	0.562													False	0	False	1:176526097	0	T	176526097	C	T	176526097	2	4	142	1	0	0	0	0	0	0	0	1	11501	639	23	1		1	PAPPA2	1	176526097	Silent	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	18373381	176526097	72724524	9	33981											
ZC3H11A	9877	broad.mit.edu	37	chr1	203821424	203821424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgattttgagaaactaaTatgggagatttcaggaggca	13	3	1	3			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:203821424T>C	ENST00000545588.1	+	17	6157	c.2330T>C	c.(2329-2331)aTa>aCa	p.I777T	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAAACTAATATGGGAGATT	0.473													False	0	False	1:203821424	0	C	203821424	T	C	203821424	3	2	142	1	0	0	0	0	1	0	0	0	17643	1406	49	4	2392	4	ZC3H11A	1	203821424	Missense_Mutation	SNP	T	TCGA-XN-A8T5-01A-12D-A36O-08	27295327	203821424	45429197	10	33982											
ETNK2	55224	broad.mit.edu	37	chr1	204115868	204115868	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttggcgtggatagtatgaatCtttgccatttctaaggcgat	11	6	2	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:204115868C>G	ENST00000367202.4	-	3	693	c.543G>C	c.(541-543)aaG>aaC	p.K181N	ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367198.2_Missense_Mutation_p.K3N|ETNK2_ENST00000367201.3_Missense_Mutation_p.K181N	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	181							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TAGTATGAATCTTTGCCATTT	0.507													False	0	True	1:204115868	0	G	204115868	C	G	204115868	3	3	142	1	0	0	0	0	1	0	0	0	5306	912	32	5	641	5	ETNK2	1	204115868	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	294444	204115868	45134753	11	33983											
RYR2	6262	broad.mit.edu	37	chr1	237969517	237969517	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttttgccgctcaccttctCgacattgctatgggattcaa	7	11	3	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:237969517C>T	ENST00000366574.2	+	99	14549	c.14232C>T	c.(14230-14232)ctC>ctT	p.L4744L	RYR2_ENST00000360064.6_Silent_p.L4750L|RYR2_ENST00000542537.1_Silent_p.L4728L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4744					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCACCTTCTCGACATTGCTA	0.408													False	0	False	1:237969517	0	T	237969517	C	T	237969517	2	4	142	1	0	0	0	0	0	0	0	1	13848	871	31	1		1	RYR2	1	237969517	Silent	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	33853649	237969517	11281104	12	33984											
OR2W5	0	broad.mit.edu	37	chr1	247655131	247655131	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgaagtcagcagcagggcGaaagaaagccttccacacct	11	11	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:247655131G>A	ENST00000522351.1	+	0	762							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCAGCAGGGCGAAAGAAAGCC	0.587													False	0	True	1:247655131	0	A	247655131	G	A	247655131	1	1	142	0	1	0	0	0	0	0	0	0	11102	1045	37	1		1	OR2W5	1	247655131	RNA	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	9685614	247655131	1595490	13	33985											
GREB1	9687	broad.mit.edu	37	chr2	11773143	11773143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctctgatgactcctgcGtgatgtggaacgtggtggat	14	7	1	4			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:11773143G>A	ENST00000381486.2	+	28	5245	c.4945G>A	c.(4945-4947)Gtg>Atg	p.V1649M	GREB1_ENST00000234142.5_Missense_Mutation_p.V1649M|GREB1_ENST00000396123.1_Missense_Mutation_p.V647M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1649						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGACTCCTGCGTGATGTGGAA	0.562													False	0	False	2:11773143	0	A	11773143	G	A	11773143	3	1	142	1	0	0	0	0	1	0	0	0	6807	1145	40	1	5159	1	GREB1	2	11773143	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		11773143	231426230	14	33986											
SEMA4F	10505	broad.mit.edu	37	chr2	74902760	74902760	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacatgaaattgtaccAcgtgagttgtagattttgga	11	4	0	4			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:74902760A>T	ENST00000357877.2	+	11	1630	c.1481A>T	c.(1480-1482)cAc>cTc	p.H494L	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Splice_Site_p.H339L	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	494	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AAATTGTACCACGTGAGTTGT	0.527													False	0	False	2:74902760	0	T	74902760	A	T	74902760	5	4	142	1	0	0	0	0	0	0	1	0	14116	173	6	5	1523	5	SEMA4F	2	74902760	Splice_Site	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08	63129617	74902760	168296613	15	33987											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	142	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-XN-A8T5-01A-12D-A36O-08	22944605	97847365	145352008	16	33988											
ARHGAP15	55843	broad.mit.edu	37	chr2	144525606	144525606	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgtccacgcaaagcttgggGattgtatttggacctaccct	10	10	0	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:144525606G>T	ENST00000295095.6	+	14	1460	c.1293G>T	c.(1291-1293)ggG>ggT	p.G431G	CTD-2252P21.1_ENST00000548756.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	431	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAAGCTTGGGGATTGTATTTG	0.453													False	0	True	2:144525606	0	T	144525606	G	T	144525606	2	4	142	1	0	0	0	0	0	0	0	1	868	1161	41	3		3	ARHGAP15	2	144525606	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	46678241	144525606	98673767	17	33989											
ZSWIM2	151112	broad.mit.edu	37	chr2	187702250	187702250	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attagctaagatcttcatgcAttttatatgaatactattgc	5	6	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:187702250A>T	ENST00000295131.2	-	5	565	c.526T>A	c.(526-528)Tgc>Agc	p.C176S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	176					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATCTTCATGCATTTTATATGA	0.318													False	0	True	2:187702250	0	T	187702250	A	T	187702250	3	4	142	1	0	0	0	0	1	0	0	0	18323	217	8	5	1395	5	ZSWIM2	2	187702250	Missense_Mutation	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08	43176644	187702250	55497123	18	33990											
TRIP12	9320	broad.mit.edu	37	chr2	230643255	230643255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctaccaaagggaagcGcaaacaggccctggaggttt	12	11	0	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:230643255G>A	ENST00000283943.5	-	35	5211	c.5033C>T	c.(5032-5034)gCg>gTg	p.A1678V	TRIP12_ENST00000389044.4_Missense_Mutation_p.A1726V|TRIP12_ENST00000389045.3_Missense_Mutation_p.A1408V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1678					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAAGGGAAGCGCAAACAGGCC	0.428													False	0	False	2:230643255	0	A	230643255	G	A	230643255	3	1	142	1	0	0	0	0	1	0	0	0	16639	1087	38	1	973	1	TRIP12	2	230643255	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	42941005	230643255	12556118	19	33991											
ITPR1	3708	broad.mit.edu	37	chr3	4744532	4744532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agactcgccagcctgtctttGtgcaactgctgcaaggcgtg	12	12	1	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:4744532G>T	ENST00000354582.6	+	36	4905	c.4555G>T	c.(4555-4557)Gtg>Ttg	p.V1519L	ITPR1_ENST00000443694.2_Missense_Mutation_p.V1504L|ITPR1_ENST00000423119.2_Missense_Mutation_p.V1510L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.V1504L|ITPR1_ENST00000357086.4_Missense_Mutation_p.V1510L|ITPR1_ENST00000456211.2_Missense_Mutation_p.V1495L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1519					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCCTGTCTTTGTGCAACTGCT	0.473													False	0	True	3:4744532	0	T	4744532	G	T	4744532	3	4	142	1	0	0	0	0	1	0	0	0	7970	1377	48	3	4689	3	ITPR1	3	4744532	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		4744532	193277898	20	33992											
NCKIPSD	51517	broad.mit.edu	37	chr3	48716527	48716527	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agccagaagcaggttcacgcAgaggtccggcagctgctctg	14	12	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:48716527A>T	ENST00000294129.2	-	10	1779	c.1660T>A	c.(1660-1662)Tgc>Agc	p.C554S	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.C547S|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.C554S	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	554	Leu-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTTCACGCAGAGGTCCGGC	0.652													False	0	False	3:48716527	0	T	48716527	A	T	48716527	3	4	142	1	0	0	0	0	1	0	0	0	10293	188	7	5	524	5	NCKIPSD	3	48716527	Missense_Mutation	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08	43971995	48716527	149305903	21	33993											
RNF13	11342	broad.mit.edu	37	chr3	149570341	149570341	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcagacatttgatgacctCcctgcaagatttggttatag	8	9	1	4			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:149570341C>T	ENST00000344229.3	+	4	855	c.153C>T	c.(151-153)ctC>ctT	p.L51L	RNF13_ENST00000392894.3_Silent_p.L51L	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	51					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGATGACCTCCCTGCAAGAT	0.274													False	0	True	3:149570341	0	T	149570341	C	T	149570341	2	4	142	1	0	0	0	0	0	0	0	1	13516	842	30	2		2	RNF13	3	149570341	Silent	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	100853814	149570341	48452089	22	33994											
FAM194A	131831	broad.mit.edu	37	chr3	150421561	150421561	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcttcctcctcctccTccacctcttcctcctcctcc	0	26	2	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:150421561T>A	ENST00000295910.6	-	1	177	c.125A>T	c.(124-126)gAg>gTg	p.E42V	FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	42	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ctcctcctcctccacctcttc	0.617													False	0	True	3:150421561	0	A	150421561	T	A	150421561	3	1	142	1	0	0	0	0	1	0	0	0	5562	1551	54	5	1922	5	FAM194A	3	150421561	Missense_Mutation	SNP	T	TCGA-XN-A8T5-01A-12D-A36O-08	851220	150421561	47600869	23	33995											
ANK2	287	broad.mit.edu	37	chr4	114203916	114203916	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaactatggagcagagacaaAcattgtgacaaagcaaggag	12	6	0	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr4:114203916A>T	ENST00000357077.4	+	18	2020	c.1967A>T	c.(1966-1968)aAc>aTc	p.N656I	ANK2_ENST00000264366.6_Missense_Mutation_p.N656I|ANK2_ENST00000394537.3_Missense_Mutation_p.N656I|ANK2_ENST00000506722.1_Missense_Mutation_p.N635I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	656					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAGAGACAAACATTGTGACA	0.448													False	0	True	4:114203916	0	T	114203916	A	T	114203916	3	4	142	1	0	0	0	0	1	0	0	0	621	43	2	5	2062	5	ANK2	4	114203916	Missense_Mutation	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08		114203916	76950360	24	33996											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	142	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-XN-A8T5-01A-12D-A36O-08		78610444	102304816	25	33997											
PCDHGA10	0	broad.mit.edu	37	chr5	140793016	140793016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagcttgatcaccgcgGgcaggatagaccgggaggag	18	10	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:140793016G>A	ENST00000398610.2	+	1	274	c.274G>A	c.(274-276)Ggc>Agc	p.G92S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCACCGCGGGCAGGATAGA	0.602													False	0	True	5:140793016	0	A	140793016	G	A	140793016	3	1	142	1	0	0	0	0	1	0	0	0	11619	1232	43	2	276	2	PCDHGA10	5	140793016	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	62182572	140793016	40122244	26	33998											
PANK3	79646	broad.mit.edu	37	chr5	167995848	167995848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtacatcccgaatgcCggtggatccatatgccacgt	11	11	0	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:167995848C>T	ENST00000239231.6	-	2	500	c.184G>A	c.(184-186)Ggc>Agc	p.G62S		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	62					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TCCCGAATGCCGGTGGATCCA	0.418													False	0	False	5:167995848	0	T	167995848	C	T	167995848	3	4	142	1	0	0	0	0	1	0	0	0	11486	652	23	1	952	1	PANK3	5	167995848	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	27202832	167995848	12919412	27	33999											
RPL26L1	51121	broad.mit.edu	37	chr5	172386920	172386920	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcggaccgcagtaaaaaccGcaaacgtcacttcaatgccc	7	15	2	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:172386920G>T	ENST00000521476.1	+	2	168	c.44G>T	c.(43-45)cGc>cTc	p.R15L	RPL26L1_ENST00000519974.1_Missense_Mutation_p.R15L|RPL26L1_ENST00000265100.2_Missense_Mutation_p.R15L|RPL26L1_ENST00000519239.1_Missense_Mutation_p.R15L			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	15					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGTAAAAACCGCAAACGTCAC	0.562													False	0	False	5:172386920	0	T	172386920	G	T	172386920	3	4	142	1	0	0	0	0	1	0	0	0	13653	1087	38	3	46	3	RPL26L1	5	172386920	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	4391072	172386920	8528340	28	34000											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839811	27839811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtaggcctcgcaagcctCctgcagcgccatcaccgccg	11	18	1	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:27839811C>T	ENST00000328488.2	-	1	288	c.283G>A	c.(283-285)Gag>Aag	p.E95K		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	95					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCGCAAGCCTCCTGCAGCGCC	0.562													False	0	False	6:27839811	0	T	27839811	C	T	27839811	3	4	142	1	0	0	0	0	1	0	0	0	7210	864	30	2	131	2	HIST1H3I	6	27839811	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08		27839811	143275256	29	34001											
GRM4	2914	broad.mit.edu	37	chr6	34003851	34003851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgccctgctcgaagatgCggtagatgcggttggtcttg	15	9	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:34003851C>T	ENST00000538487.2	-	9	2479	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	GRM4_ENST00000455714.2_Missense_Mutation_p.R539H|GRM4_ENST00000374181.4_Missense_Mutation_p.R679H|GRM4_ENST00000609222.1_Missense_Mutation_p.R546H|GRM4_ENST00000535756.1_Missense_Mutation_p.R546H|GRM4_ENST00000544773.2_Missense_Mutation_p.R510H|GRM4_ENST00000374177.3_Missense_Mutation_p.R563H|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTCGAAGATGCGGTAGATGCG	0.627													False	0	False	6:34003851	0	T	34003851	C	T	34003851	3	4	142	1	0	0	0	0	1	0	0	0	6846	768	27	1	714	1	GRM4	6	34003851	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	6164040	34003851	137111216	30	34002											
COL12A1	1303	broad.mit.edu	37	chr6	75884826	75884826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaggctgtcacagataaggCgtattgtgtcccttccttca	9	11	2	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:75884826C>A	ENST00000322507.8	-	13	2947	c.2638G>T	c.(2638-2640)Gcc>Tcc	p.A880S	COL12A1_ENST00000416123.2_Missense_Mutation_p.A880S|COL12A1_ENST00000483888.2_Missense_Mutation_p.A880S|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	880	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACAGATAAGGCGTATTGTGTC	0.488													False	0	False	6:75884826	0	A	75884826	C	A	75884826	3	1	142	1	0	0	0	0	1	0	0	0	3692	768	27	3	6769	3	COL12A1	6	75884826	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	41880975	75884826	95230241	31	34003											
LATS1	9113	broad.mit.edu	37	chr6	150001515	150001515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacttgtccattttagcccTtttaagacggatgtaattag	8	7	0	2	rs67173413		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:150001515T>C	ENST00000543571.1	-	5	2636	c.2089A>G	c.(2089-2091)Agg>Ggg	p.R697G	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.R697G	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	697					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATTTTAGCCCTTTTAAGACGG	0.363													False	0	True	6:150001515	0	C	150001515	T	C	150001515	3	2	142	1	0	0	0	0	1	0	0	0	8697	1608	56	4	1319	4	LATS1	6	150001515	Missense_Mutation	SNP	T	TCGA-XN-A8T5-01A-12D-A36O-08	74116689	150001515	21113552	32	34004											
RNF19A	25897	broad.mit.edu	37	chr8	101299991	101299991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatctgtctttagaatgccGcaaaaggcacaaagggcact	9	9	2	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr8:101299991G>A	ENST00000519449.1	-	3	728	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	138					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TTAGAATGCCGCAAAAGGCAC	0.373													False	0	False	8:101299991	0	A	101299991	G	A	101299991	3	1	142	1	0	0	0	0	1	0	0	0	13549	1086	38	1	2140	1	RNF19A	8	101299991	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		101299991	45064031	33	34005											
TRPM6	140803	broad.mit.edu	37	chr9	77431650	77431650	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccctgtcccaagccattgCcagatttaattgctctgacg	7	14	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:77431650C>A	ENST00000451710.3	-	11	1480	c.1243G>T	c.(1243-1245)Gca>Tca	p.A415S	TRPM6_ENST00000376872.3_Missense_Mutation_p.A415S|TRPM6_ENST00000449912.2_Missense_Mutation_p.A410S|TRPM6_ENST00000376871.3_Missense_Mutation_p.A415S|TRPM6_ENST00000360774.1_Missense_Mutation_p.A415S|TRPM6_ENST00000361255.3_Missense_Mutation_p.A410S|TRPM6_ENST00000376864.4_Missense_Mutation_p.A415S			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	415					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAAGCCATTGCCAGATTTAAT	0.353													False	0	False	9:77431650	0	A	77431650	C	A	77431650	3	1	142	1	0	0	0	0	1	0	0	0	16673	739	26	3	4941	3	TRPM6	9	77431650	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08		77431650	63781781	34	34006											
PHF2	5253	broad.mit.edu	37	chr9	96418827	96418827	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgactcagtttcccaactTtgaaactgcgtgctggtaca	8	12	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:96418827T>A	ENST00000359246.4	+	9	1464	c.1097T>A	c.(1096-1098)tTt>tAt	p.F366Y	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	366					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TTTCCCAACTTTGAAACTGCG	0.547													False	0	True	9:96418827	0	A	96418827	T	A	96418827	3	1	142	1	0	0	0	0	1	0	0	0	11899	1841	64	5	1131	5	PHF2	9	96418827	Missense_Mutation	SNP	T	TCGA-XN-A8T5-01A-12D-A36O-08	18987177	96418827	44794604	35	34007											
OR1N2	138882	broad.mit.edu	37	chr9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgtcttctcctatgtccGcattttctgggctgtgtttg	10	10	3	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:125316158G>A	ENST00000373688.2	+	1	768	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	237			R -> C (in dbSNP:rs41316976).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517													False	0	False	9:125316158	0	A	125316158	G	A	125316158	3	1	142	1	0	0	0	0	1	0	0	0	11038	1087	38	1	712	1	OR1N2	9	125316158	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	28897331	125316158	15897273	36	34008											
KCNT1	57582	broad.mit.edu	37	chr9	138651632	138651632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggctacggtgacgtcaCgcccaagatctggccatcgc	13	14	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:138651632C>T	ENST00000298480.5	+	11	1036	c.962C>T	c.(961-963)aCg>aTg	p.T321M	KCNT1_ENST00000491806.2_Missense_Mutation_p.T288M|KCNT1_ENST00000371757.2_Missense_Mutation_p.T321M|KCNT1_ENST00000486577.2_Missense_Mutation_p.T282M|KCNT1_ENST00000263604.3_Missense_Mutation_p.T302M|KCNT1_ENST00000487664.1_Missense_Mutation_p.T276M|KCNT1_ENST00000490355.2_Missense_Mutation_p.T302M|KCNT1_ENST00000488444.2_Missense_Mutation_p.T302M			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	321						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGTGACGTCACGCCCAAGATC	0.647													False	0	False	9:138651632	0	T	138651632	C	T	138651632	3	4	142	1	0	0	0	0	1	0	0	0	8141	536	19	1	1004	1	KCNT1	9	138651632	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	13335474	138651632	2561799	37	34009											
UAP1L1	91373	broad.mit.edu	37	chr9	139974535	139974535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggaatctggtaaagccGctaaaaccgaacgggataaa	13	7	1	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:139974535G>A	ENST00000409858.3	+	6	1151	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P	UAP1L1_ENST00000360271.3_Silent_p.P250P	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like 1	373			P -> S (in dbSNP:rs1122444).				nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TGGTAAAGCCGCTAAAACCGA	0.488													False	0	False	9:139974535	0	A	139974535	G	A	139974535	2	1	142	1	0	0	0	0	0	0	0	1	16910	1074	38	1		1	UAP1L1	9	139974535	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	1322903	139974535	1238896	38	34010											
PIP4K2A	5305	broad.mit.edu	37	chr10	22896891	22896891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaattccaaacctctcccGcaggttacggaagaccatcg	7	14	2	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:22896891G>A	ENST00000376573.4	-	3	532	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.R43W|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	102	PIPK.			LRE -> CGK (in Ref. 3; AAB35041).			1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AACCTCTCCCGCAGGTTACGG	0.448													False	0	True	10:22896891	0	A	22896891	G	A	22896891	3	1	142	1	0	0	0	0	1	0	0	0	12005	1086	38	1	948	1	PIP4K2A	10	22896891	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		22896891	112637856	39	34011											
ZNF33B	7582	broad.mit.edu	37	chr10	43090109	43090109	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaatgtttagattgattttCttggctcctctctttcaggt	7	8	3	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:43090109C>A	ENST00000359467.3	-	5	403	c.289G>T	c.(289-291)Gaa>Taa	p.E97*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	97						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GATTGATTTTCTTGGCTCCTC	0.333													False	0	True	10:43090109	0	A	43090109	C	A	43090109	4	1	142	1	0	0	0	0	0	1	0	0	17938	922	32	3	2051	3	ZNF33B	10	43090109	Nonsense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	20193218	43090109	92444638	40	34012											
BICC1	80114	broad.mit.edu	37	chr10	60560029	60560029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagtgcaaatcacggggatCcgtccatccagacaagtggg	13	10	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:60560029C>T	ENST00000373886.3	+	13	1805	c.1801C>T	c.(1801-1803)Ccg>Tcg	p.P601S	BICC1_ENST00000263103.1_Missense_Mutation_p.P227S	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	601					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TCACGGGGATCCGTCCATCCA	0.403													False	0	False	10:60560029	0	T	60560029	C	T	60560029	3	4	142	1	0	0	0	0	1	0	0	0	1432	855	30	2	1851	2	BICC1	10	60560029	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	17469920	60560029	74974718	41	34013											
HMX3	340784	broad.mit.edu	37	chr10	124895877	124895877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcccggcgcagaggtttgCcctgcccgcgcactacctgg	13	16	0	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:124895877C>T	ENST00000357878.5	+	1	400	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	104					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CAGAGGTTTGCCCTGCCCGCG	0.731													False	0	True	10:124895877	0	T	124895877	C	T	124895877	3	4	142	1	0	0	0	0	1	0	0	0	7295	739	26	2	313	2	HMX3	10	124895877	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	64335848	124895877	10638870	42	34014											
OR52W1	120787	broad.mit.edu	37	chr11	6221254	6221254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctcctacctcacacaCcgctttggtcatcacactgt	4	17	5	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:6221254C>A	ENST00000311352.2	+	1	879	c.801C>A	c.(799-801)caC>caA	p.H267Q		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTCACACACCGCTTTGGTC	0.547													False	0	True	11:6221254	0	A	6221254	C	A	6221254	3	1	142	1	0	0	0	0	1	0	0	0	11200	506	18	3	803	3	OR52W1	11	6221254	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08		6221254	128785262	43	34015											
SLC5A12	159963	broad.mit.edu	37	chr11	26725427	26725427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatccttgaatgagaaccGttaagaagcccacaatcatg	8	9	1	4			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:26725427G>A	ENST00000396005.3	-	5	902	c.593C>T	c.(592-594)aCg>aTg	p.T198M	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T198M	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	198					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGAGAACCGTTAAGAAGCC	0.403													False	0	False	11:26725427	0	A	26725427	G	A	26725427	3	1	142	1	0	0	0	0	1	0	0	0	14744	1145	40	1	1307	1	SLC5A12	11	26725427	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	20504173	26725427	108281089	44	34016											
FOLH1	2346	broad.mit.edu	37	chr11	49186320	49186320	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caatcaactctcagagtgtaGtttcctgaaaaataagaaaa	6	7	2	3			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:49186320G>C	ENST00000340334.7	-	14	1700	c.1332C>G	c.(1330-1332)aaC>aaG	p.N444K	FOLH1_ENST00000533034.1_Missense_Mutation_p.N444K|FOLH1_ENST00000356696.3_Missense_Mutation_p.N459K|FOLH1_ENST00000256999.2_Missense_Mutation_p.N459K|FOLH1_ENST00000343844.4_Missense_Mutation_p.N151K|FOLH1_ENST00000525629.1_5'UTR	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	459	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCAGAGTGTAGTTTCCTGAAA	0.294													False	0	True	11:49186320	0	C	49186320	G	C	49186320	3	2	142	1	0	0	0	0	1	0	0	0	6019	1020	36	5	903	5	FOLH1	11	49186320	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	22460893	49186320	85820196	45	34017											
SPDYC	387778	broad.mit.edu	37	chr11	64940200	64940200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcttggactcgggaccggCgcccccaccatggtggggtt	17	13	0	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:64940200C>T	ENST00000377185.2	+	6	644	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	188	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TCGGGACCGGCGCCCCCACCA	0.657													False	0	False	11:64940200	0	T	64940200	C	T	64940200	3	4	142	1	0	0	0	0	1	0	0	0	15110	768	27	1	584	1	SPDYC	11	64940200	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	15753880	64940200	70066316	46	34018											
RELA	5970	broad.mit.edu	37	chr11	65421892	65421892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgagaagtccatgtccGcaatggaggagaagtcttca	14	8	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:65421892G>A	ENST00000406246.3	-	11	1874	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Missense_Mutation_p.A535V	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	538					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GTCCATGTCCGCAATGGAGGA	0.642													False	0	False	11:65421892	0	A	65421892	G	A	65421892	3	1	142	1	0	0	0	0	1	0	0	0	13295	1087	38	1	46	1	RELA	11	65421892	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	481692	65421892	69584624	47	34019											
GUCY2C	2984	broad.mit.edu	37	chr12	14772183	14772183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctagaggctgtgttgaccGtatctccaaatagacaataa	8	9	1	3			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:14772183G>A	ENST00000261170.3	-	24	2973	c.2837C>T	c.(2836-2838)aCg>aTg	p.T946M	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	946	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGTGTTGACCGTATCTCCAAA	0.488													False	0	False	12:14772183	0	A	14772183	G	A	14772183	3	1	142	1	0	0	0	0	1	0	0	0	6943	1145	40	1	400	1	GUCY2C	12	14772183	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		14772183	119079712	48	34020											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	142	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	10626102	25398285	108453610	49	34021											
NCKAP1L	3071	broad.mit.edu	37	chr12	54925049	54925049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaactctgttccagagatgCgggccttggcagaactcctg	12	11	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:54925049C>T	ENST00000293373.6	+	23	2591	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R788W	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	838					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCCAGAGATGCGGGCCTTGGC	0.468													False	0	True	12:54925049	0	T	54925049	C	T	54925049	3	4	142	1	0	0	0	0	1	0	0	0	10290	759	27	1	2602	1	NCKAP1L	12	54925049	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	29526764	54925049	78926846	50	34022											
ARHGAP9	64333	broad.mit.edu	37	chr12	57871243	57871243	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaggtaaggtctcaccGtctcgctgcgactgcggcgc	15	13	2	0	rs147287939		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:57871243G>A	ENST00000393797.2	-	7	1160	c.968C>T	c.(967-969)aCg>aTg	p.T323M	ARHGAP9_ENST00000550288.1_Splice_Site_p.T331M|ARHGAP9_ENST00000356411.2_Splice_Site_p.T252M|ARHGAP9_ENST00000393791.3_Splice_Site_p.T252M|ARHGAP9_ENST00000430041.2_Splice_Site_p.T68M|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000424809.2_Splice_Site_p.T252M			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	252	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGGTCTCACCGTCTCGCTGCG	0.577													False	0	False	12:57871243	0	A	57871243	G	A	57871243	5	1	142	1	0	0	0	0	0	0	1	0	891	1159	40	1	1500	1	ARHGAP9	12	57871243	Splice_Site	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	2946194	57871243	75980652	51	34023											
ATP2A2	488	broad.mit.edu	37	chr12	110778544	110778544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccgtgaagctgtgccgGcaagcaggcatccgggtcat	13	13	1	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:110778544G>A	ENST00000395494.2	+	13	2324	c.1761G>A	c.(1759-1761)cgG>cgA	p.R587R	ATP2A2_ENST00000539276.2_Silent_p.R614R|ATP2A2_ENST00000308664.6_Silent_p.R614R			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	614	Interacts with HAX1.				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGCTGTGCCGGCAAGCAGGCA	0.577													False	0	False	12:110778544	0	A	110778544	G	A	110778544	2	1	142	1	0	0	0	0	0	0	0	1	1141	1190	42	2		2	ATP2A2	12	110778544	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	52907301	110778544	23073351	52	34024											
GPC5	2262	broad.mit.edu	37	chr13	92101122	92101122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgcagcagtttcttcaaAcgtccagctctacattaaag	6	10	3	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr13:92101122A>G	ENST00000377067.3	+	2	643	c.271A>G	c.(271-273)Acg>Gcg	p.T91A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	91						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTTTCTTCAAACGTCCAGCTC	0.438													False	0	True	13:92101122	0	G	92101122	A	G	92101122	3	3	142	1	0	0	0	0	1	0	0	0	6647	43	2	4	277	4	GPC5	13	92101122	Missense_Mutation	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08		92101122	23068756	53	34025											
NFATC4	4776	broad.mit.edu	37	chr14	24842975	24842975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgagacggacatcgggcGcaaaaacacacgtgtacggc	15	10	0	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr14:24842975G>A	ENST00000413692.2	+	6	1967	c.1823G>A	c.(1822-1824)cGc>cAc	p.R608H	NFATC4_ENST00000539237.2_Missense_Mutation_p.R577H|NFATC4_ENST00000554591.1_Missense_Mutation_p.R608H|NFATC4_ENST00000555453.1_Missense_Mutation_p.R533H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R545H|NFATC4_ENST00000556279.1_Missense_Mutation_p.R577H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R533H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R545H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R558H|NFATC4_ENST00000554661.1_Missense_Mutation_p.R475H|NFATC4_ENST00000556759.1_Missense_Mutation_p.R80H|NFATC4_ENST00000557451.1_Missense_Mutation_p.R475H|NFATC4_ENST00000553469.1_Missense_Mutation_p.R577H|NFATC4_ENST00000555167.1_Missense_Mutation_p.R80H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R475H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R558H|NFATC4_ENST00000250373.4_Missense_Mutation_p.R545H|NFATC4_ENST00000554966.1_Missense_Mutation_p.R558H|NFATC4_ENST00000553879.1_Missense_Mutation_p.R475H|NFATC4_ENST00000554473.1_Missense_Mutation_p.R80H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R533H	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	545	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R545H(1)|p.R608H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GACATCGGGCGCAAAAACACA	0.592													False	0	False	14:24842975	0	A	24842975	G	A	24842975	3	1	142	1	0	0	0	0	1	0	0	0	10433	1087	38	1	1845	1	NFATC4	14	24842975	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		24842975	82506565	54	34026											
TRMT5	57570	broad.mit.edu	37	chr14	61442343	61442343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacagctccagccctttgccGaacatcctcagcagggttag	9	15	1	0	rs150018663		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr14:61442343G>A	ENST00000261249.6	-	4	1678	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	432						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		GCCCTTTGCCGAACATCCTCA	0.483													False	0	False	14:61442343	0	A	61442343	G	A	61442343	3	1	142	1	0	0	0	0	1	0	0	0	16650	1057	37	1	243	1	TRMT5	14	61442343	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	36599368	61442343	45907197	55	34027											
SLC8A3	6547	broad.mit.edu	37	chr14	70633740	70633740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtcgtcatcaattatgCccacggagaactccttctgg	8	11	3	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr14:70633740C>T	ENST00000381269.2	-	2	2153	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	SLC8A3_ENST00000356921.2_Missense_Mutation_p.G467D|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G467D|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G467D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	467	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATCAATTATGCCCACGGAGAA	0.517													False	0	True	14:70633740	0	T	70633740	C	T	70633740	3	4	142	1	0	0	0	0	1	0	0	0	14788	739	26	2	1522	2	SLC8A3	14	70633740	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	9191397	70633740	36715800	56	34028											
HERC2	8924	broad.mit.edu	37	chr15	28515989	28515989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtacctcaggaaactctcaTtggggctcagagggccagac	13	11	3	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr15:28515989T>C	ENST00000261609.7	-	10	1217	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	370					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAAACTCTCATTGGGGCTCAG	0.448													False	0	False	15:28515989	0	C	28515989	T	C	28515989	3	2	142	1	0	0	0	0	1	0	0	0	7105	1493	52	4	13731	4	HERC2	15	28515989	Missense_Mutation	SNP	T	TCGA-XN-A8T5-01A-12D-A36O-08		28515989	74015403	57	34029											
UACA	55075	broad.mit.edu	37	chr15	70960066	70960066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaaagctgacaattgggGcgtattttaccttaatgcat	8	9	1	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr15:70960066G>A	ENST00000322954.6	-	16	3142	c.2957C>T	c.(2956-2958)gCc>gTc	p.A986V	UACA_ENST00000539319.1_Missense_Mutation_p.A877V|UACA_ENST00000379983.2_Missense_Mutation_p.A973V|UACA_ENST00000560441.1_Missense_Mutation_p.A971V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	986						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GACAATTGGGGCGTATTTTAC	0.403													False	0	True	15:70960066	0	A	70960066	G	A	70960066	3	1	142	1	0	0	0	0	1	0	0	0	16908	1203	42	2	1309	2	UACA	15	70960066	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	42444077	70960066	31571326	58	34030											
SMG1	23049	broad.mit.edu	37	chr16	18896965	18896965	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatccacattttcaagaatAgactgcaggctggtcattac	8	9	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:18896965A>T	ENST00000446231.2	-	7	1258	c.846T>A	c.(844-846)tcT>tcA	p.S282S	SMG1_ENST00000565224.1_Silent_p.S256S|SMG1_ENST00000389467.3_Silent_p.S282S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	282	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTCAAGAATAGACTGCAGGC	0.333													False	0	False	16:18896965	0	T	18896965	A	T	18896965	2	4	142	1	0	0	0	0	0	0	0	1	14875	407	15	5		5	SMG1	16	18896965	Silent	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08		18896965	71457788	59	34031											
FANCA	2175	broad.mit.edu	37	chr16	89858476	89858476	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcactcagcatcacaaagaGctgaaataaaagcatccgct	7	11	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:89858476G>T	ENST00000389301.3	-	13	1114	c.1084C>A	c.(1084-1086)Ctc>Atc	p.L362I	FANCA_ENST00000568369.1_Splice_Site_p.L362I	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	362					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ATCACAAAGAGCTGAAATAAA	0.542			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				False	0	False	16:89858476	0	T	89858476	G	T	89858476	5	4	142	1	0	0	0	0	0	0	1	0	5702	985	34	3	3407	3	FANCA	16	89858476	Splice_Site	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	70961511	89858476	496277	60	34032											
TP53	7157	broad.mit.edu	37	chr17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtagatggccatggcgcggaCgcgggtgccgggcgggggtg	23	9	0	1	rs121912654		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCGCGGACGCGGGTGCCG	0.617		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)			False	0	False	17:7578461	0	A	7578461	C	A	7578461	3	1	142	1	0	0	0	0	1	0	0	0	16464	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08		7578461	73616749	61	34033											
GUCY2D	3000	broad.mit.edu	37	chr17	7915536	7915536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggagcagaaggccctgcGgccctctgggagggcaacct	17	13	1	1	rs63749078		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:7915536G>A	ENST00000254854.4	+	9	1974	c.1824G>A	c.(1822-1824)gcG>gcA	p.A608A		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	608	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				AAGGCCCTGCGGCCCTCTGGG	0.617													False	0	False	17:7915536	0	A	7915536	G	A	7915536	2	1	142	1	0	0	0	0	0	0	0	1	6944	1103	39	1		1	GUCY2D	17	7915536	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	337075	7915536	73279674	62	34034											
KRT37	8688	broad.mit.edu	37	chr17	39580491	39580491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattcagggtgtttttgccGtaggccccacagattccgat	10	12	1	1	rs146872723	byFrequency	TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:39580491G>A	ENST00000225550.3	-	1	284	c.285C>T	c.(283-285)taC>taT	p.Y95Y	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	95	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TGTTTTTGCCGTAGGCCCCAC	0.597													False	0	False	17:39580491	0	A	39580491	G	A	39580491	2	1	142	1	0	0	0	0	0	0	0	1	8524	1140	40	1		1	KRT37	17	39580491	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	31664955	39580491	41614719	63	34035											
SMURF2	64750	broad.mit.edu	37	chr17	62558963	62558963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgggaaagttcttgccGcaaaatttttagtttctgaa	9	5	2	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:62558963G>A	ENST00000262435.9	-	11	1325	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	380					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AGTTCTTGCCGCAAAATTTTT	0.448													False	0	False	17:62558963	0	A	62558963	G	A	62558963	3	1	142	1	0	0	0	0	1	0	0	0	14900	1086	38	1	1144	1	SMURF2	17	62558963	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	22978472	62558963	18636247	64	34036											
CDC42EP4	23580	broad.mit.edu	37	chr17	71281656	71281656	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcagcccgggccctgtcCggcccccggaaggcagggct	15	17	0	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:71281656C>A	ENST00000581014.1	-	3	397	c.181G>T	c.(181-183)Gga>Tga	p.G61*	CDC42EP4_ENST00000439510.2_Silent_p.P258P|CDC42EP4_ENST00000335793.3_Silent_p.P328P			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	0					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GGGCCCTGTCCGGCCCCCGGA	0.652													False	0	False	17:71281656	0	A	71281656	C	A	71281656	4	1	142	1	0	0	0	0	0	1	0	0	3101	639	23	3	90	3	CDC42EP4	17	71281656	Nonsense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	8722693	71281656	9913554	65	34037											
EVPL	2125	broad.mit.edu	37	chr17	74004853	74004853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcccaccgcagggcttccGtggacttctccaggtccggg	14	15	1	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:74004853G>A	ENST00000301607.3	-	22	4686	c.4433C>T	c.(4432-4434)aCg>aTg	p.T1478M	EVPL_ENST00000586740.1_Missense_Mutation_p.T1500M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1478	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CAGGGCTTCCGTGGACTTCTC	0.592													False	0	False	17:74004853	0	A	74004853	G	A	74004853	3	1	142	1	0	0	0	0	1	0	0	0	5324	1145	40	1	1672	1	EVPL	17	74004853	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	2723197	74004853	7190357	66	34038											
CXXC1	30827	broad.mit.edu	37	chr18	47809025	47809025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggatcgtctggtgcaGcatcagggccagcaatcccg	14	12	2	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr18:47809025G>A	ENST00000285106.6	-	15	2623	c.1909C>T	c.(1909-1911)Ctg>Ttg	p.L637L	CXXC1_ENST00000589940.1_3'UTR|CXXC1_ENST00000412036.2_Silent_p.L641L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	637					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GTCTGGTGCAGCATCAGGGCC	0.637													False	0	False	18:47809025	0	A	47809025	G	A	47809025	2	1	142	1	0	0	0	0	0	0	0	1	4122	962	34	2		2	CXXC1	18	47809025	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		47809025	30268223	67	34039											
ZNF554	115196	broad.mit.edu	37	chr19	2834450	2834450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggattcacaccggggaaaAgccctataaatgtgaagact	11	8	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:2834450A>G	ENST00000317243.5	+	5	1415	c.1217A>G	c.(1216-1218)aAg>aGg	p.K406R		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGGGGAAAAGCCCTATAAA	0.522													False	0	True	19:2834450	0	G	2834450	A	G	2834450	3	3	142	1	0	0	0	0	1	0	0	0	18068	72	3	4	1235	4	ZNF554	19	2834450	Missense_Mutation	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08		2834450	56294533	68	34040											
MUC16	94025	broad.mit.edu	37	chr19	9005718	9005718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccactctggtggctactcCatccttctcaggcctgggga	11	14	2	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:9005718C>T	ENST00000397910.4	-	46	39891	c.39688G>A	c.(39688-39690)Gga>Aga	p.G13230R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13232	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGCTACTCCATCCTTCTCA	0.562													False	0	False	19:9005718	0	T	9005718	C	T	9005718	3	4	142	1	0	0	0	0	1	0	0	0	10040	603	21	2	3991	2	MUC16	19	9005718	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	6171268	9005718	50123265	69	34041											
PLEKHG2	64857	broad.mit.edu	37	chr19	39907611	39907611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctgaaacctgtccagCgcattctcaagtaccatctg	7	14	2	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:39907611C>T	ENST00000425673.1	+	7	1040	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R239C|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R239C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R180C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R239C			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	239	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCTGTCCAGCGCATTCTCAA	0.647													False	0	False	19:39907611	0	T	39907611	C	T	39907611	3	4	142	1	0	0	0	0	1	0	0	0	12138	768	27	1	737	1	PLEKHG2	19	39907611	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	30901893	39907611	19221372	70	34042											
ZNF614	80110	broad.mit.edu	37	chr19	52520103	52520103	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctgttgtattagttttcaGatgcttagtgaacaggacac	10	6	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:52520103G>A	ENST00000270649.6	-	5	1292	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	250				L -> P (in Ref. 1; BAC04966).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTAGTTTTCAGATGCTTAGTG	0.368													False	0	False	19:52520103	0	A	52520103	G	A	52520103	2	1	142	1	0	0	0	0	0	0	0	1	18122	933	33	2		2	ZNF614	19	52520103	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	12612492	52520103	6608880	71	34043											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493737	20493737	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attaaatacaaacagctgcaGgtttggacttctgaacacct	7	9	1	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr20:20493737G>C	ENST00000202677.7	-	32	4283	c.4276C>G	c.(4276-4278)Ctg>Gtg	p.L1426V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AACAGCTGCAGGTTTGGACTT	0.537													False	0	False	20:20493737	0	C	20493737	G	C	20493737	3	2	142	1	0	0	0	0	1	0	0	0	13093	991	35	5	1377	5	RALGAPA2	20	20493737	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		20493737	42531783	72	34044											
ZBED4	9889	broad.mit.edu	37	chr22	50278645	50278645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattgtttgaatctggcgcCatcttccagcagaataaaaa	8	8	2	3	rs141708563		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr22:50278645C>T	ENST00000216268.5	+	2	1812	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AATCTGGCGCCATCTTCCAGC	0.557													False	0	False	22:50278645	0	T	50278645	C	T	50278645	2	4	142	1	0	0	0	0	0	0	0	1	17603	581	21	2		2	ZBED4	22	50278645	Silent	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08		50278645	1025921	73	34045											
PLXNB2	23654	broad.mit.edu	37	chr22	50720348	50720348	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagttctcaaaggtggggtCaggcacgtactcgaaggccc	14	10	2	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr22:50720348C>A	ENST00000449103.1	-	20	3420	c.3280G>T	c.(3280-3282)Gac>Tac	p.D1094Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.D1094Y			O15031	PLXB2_HUMAN	plexin B2	1094					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGGTGGGGTCAGGCACGTAC	0.637													False	0	False	22:50720348	0	A	50720348	C	A	50720348	3	1	142	1	0	0	0	0	1	0	0	0	12193	826	29	3	2308	3	PLXNB2	22	50720348	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	441703	50720348	584218	74	34046											
REPS2	9185	broad.mit.edu	37	chrX	17153512	17153512	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcggcaaccatgaaaccGcatccaacagtccaaaagta	7	13	1	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:17153512G>A	ENST00000357277.3	+	16	1962	c.1791G>A	c.(1789-1791)ccG>ccA	p.P597P	REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Silent_p.P596P|REPS2_ENST00000380064.4_Silent_p.P396P	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	597	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CCATGAAACCGCATCCAACAG	0.463													False	0	False	X:17153512	0	A	17153512	G	A	17153512	2	1	142	1	0	0	0	0	0	0	0	1	13308	1074	38	1		1	REPS2	23	17153512	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		17153512	138117048	75	34047											
ZNF645	158506	broad.mit.edu	37	chrX	22291423	22291423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgctgagaattgaggcGcataaacgaggttctgtctt	12	8	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:22291423G>A	ENST00000323684.1	+	1	359	c.315G>A	c.(313-315)gcG>gcA	p.A105A		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	105						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						GAATTGAGGCGCATAAACGAG	0.428													False	0	False	X:22291423	0	A	22291423	G	A	22291423	2	1	142	1	0	0	0	0	0	0	0	1	18144	1074	38	1		1	ZNF645	23	22291423	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	5137911	22291423	132979137	76	34048											
ACRC	93953	broad.mit.edu	37	chrX	70823856	70823856	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacagcagtgatgattcggaAgctcccgacgacagcagtga	13	10	0	3			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:70823856A>T	ENST00000373695.1	+	7	1266	c.729A>T	c.(727-729)gaA>gaT	p.E243D	ACRC_ENST00000373696.3_Missense_Mutation_p.E243D			Q96QF7	ACRC_HUMAN	acidic repeat containing	243	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ATGATTCGGAAGCTCCCGACG	0.547													False	0	False	X:70823856	0	T	70823856	A	T	70823856	3	4	142	1	0	0	0	0	1	0	0	0	171	69	3	5	755	5	ACRC	23	70823856	Missense_Mutation	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08	48532433	70823856	84446704	77	34049											
GABRQ	55879	broad.mit.edu	37	chrX	151821056	151821056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctccccatcaccccagCgcaggcccccctggcaagcc	7	23	2	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:151821056C>T	ENST00000370306.2	+	9	1231	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	404						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATCACCCCAGCGCAGGCCCCC	0.582													False	0	False	X:151821056	0	T	151821056	C	T	151821056	3	4	142	1	0	0	0	0	1	0	0	0	6217	768	27	1	1245	1	GABRQ	23	151821056	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	80997200	151821056	3449504	78	34050											
ESPN	83715	broad.mit.edu	37	chr1	6505817	6505879	+	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-													gggcacgattgggaagcccaCacccccaccacccccaccca					rs139266211	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	-	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENST00000377828.1	+	7	1454_1516	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca	p.PPPPPPSFPPPPPPPGTQLPP430del	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	430	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGGAAGcccacacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgcccccacccccacc	0.65													False	1	True	1:6505817	0	-	6505879	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	6505817	7	5	143	1	0	1	0	1	0	0	0	0	5286	478	17	0	1312	0	ESPN	1	6505817	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	TCGA-YB-A89D-01A-12D-A36O-08		6505817	242744804	1	34051											
KIF1B	23095	broad.mit.edu	37	chr1	10434488	10434488	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaggaaaaaacgaatttctCaatcttgttccagatattga	7	7	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:10434488C>A	ENST00000377086.1	+	46	5263	c.5061C>A	c.(5059-5061)ctC>ctA	p.L1687L	KIF1B_ENST00000377081.1_Silent_p.L1687L|KIF1B_ENST00000263934.6_Silent_p.L1641L			O60333	KIF1B_HUMAN	kinesin family member 1B	1687					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACGAATTTCTCAATCTTGTTC	0.433													False	0	False	1:10434488	0	A	10434488	C	A	10434488	2	1	143	1	0	0	0	0	0	0	0	1	8334	813	29	3		3	KIF1B	1	10434488	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3928671	10434488	238816133	2	34052											
PRDM2	7799	broad.mit.edu	37	chr1	14107823	14107823	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaggataaaacggacttgtCagaacatcgctttttgcttc	8	8	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:14107823C>A	ENST00000235372.7	+	8	4389	c.3533C>A	c.(3532-3534)tCa>tAa	p.S1178*	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Nonsense_Mutation_p.S977*|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Nonsense_Mutation_p.S977*|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.S1178*	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1178						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACGGACTTGTCAGAACATCGC	0.363													False	0	False	1:14107823	0	A	14107823	C	A	14107823	4	1	143	1	0	0	0	0	0	1	0	0	12534	838	29	3	3559	3	PRDM2	1	14107823	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3673335	14107823	235142798	3	34053											
CATSPER4	378807	broad.mit.edu	37	chr1	26524785	26524785	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctctgacaggttttttcCgtgtttggagtaacactctt	8	9	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:26524785C>A	ENST00000456354.2	+	6	754	c.687C>A	c.(685-687)tcC>tcA	p.S229S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	229					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.S229S(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTTTTTTCCGTGTTTGGAG	0.493													False	0	False	1:26524785	0	A	26524785	C	A	26524785	2	1	143	1	0	0	0	0	0	0	0	1	2710	639	23	3		3	CATSPER4	1	26524785	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	12416962	26524785	222725836	4	34054											
EPB41	2035	broad.mit.edu	37	chr1	29359683	29359683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagataagctgagaattaacCgcttcccttggcccaaagtg	9	10	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:29359683C>A	ENST00000343067.4	+	9	1418	c.1291C>A	c.(1291-1293)Cgc>Agc	p.R431S	EPB41_ENST00000373800.3_Missense_Mutation_p.R222S|EPB41_ENST00000398863.2_Missense_Mutation_p.R431S|EPB41_ENST00000356093.2_Missense_Mutation_p.R431S|EPB41_ENST00000373797.1_Missense_Mutation_p.R431S|EPB41_ENST00000373798.1_Missense_Mutation_p.R431S|EPB41_ENST00000349460.4_Missense_Mutation_p.R222S|EPB41_ENST00000347529.3_Missense_Mutation_p.R396S	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	431	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAGAATTAACCGCTTCCCTTG	0.408													False	0	False	1:29359683	0	A	29359683	C	A	29359683	3	1	143	1	0	0	0	0	1	0	0	0	5183	652	23	3	1321	3	EPB41	1	29359683	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2834898	29359683	219890938	5	34055											
CLSPN	63967	broad.mit.edu	37	chr1	36204980	36204980	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actgacatgtgtattttcttGatttgactctgcagttcctc	7	9	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:36204980G>T	ENST00000251195.5	-	19	3390	c.3294C>A	c.(3292-3294)atC>atA	p.I1098I	CLSPN_ENST00000520551.1_Silent_p.I1045I|CLSPN_ENST00000373220.3_Silent_p.I1034I|CLSPN_ENST00000318121.3_Silent_p.I1098I			Q9HAW4	CLSPN_HUMAN	claspin	1098					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTATTTTCTTGATTTGACTCT	0.408													False	0	False	1:36204980	0	T	36204980	G	T	36204980	2	4	143	1	0	0	0	0	0	0	0	1	3583	1280	45	3		3	CLSPN	1	36204980	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	6845297	36204980	213045641	6	34056											
WDR78	79819	broad.mit.edu	37	chr1	67337143	67337143	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catcctttcaacatataggtCattgcctaatctgtttctac	4	11	4	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:67337143C>A	ENST00000371026.3	-	6	905	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	WDR78_ENST00000431318.1_Missense_Mutation_p.D30Y|WDR78_ENST00000371022.3_Missense_Mutation_p.D284Y|WDR78_ENST00000371023.3_Missense_Mutation_p.D284Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	284										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACATATAGGTCATTGCCTAAT	0.318													False	0	False	1:67337143	0	A	67337143	C	A	67337143	3	1	143	1	0	0	0	0	1	0	0	0	17412	826	29	3	1801	3	WDR78	1	67337143	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	31132163	67337143	181913478	7	34057											
CSDE1	7812	broad.mit.edu	37	chr1	115282502	115282502	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttgtggagaaggtttggatCaaagctcatctgttttaaaa	11	4	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115282502C>A	ENST00000438362.2	-	3	526	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	CSDE1_ENST00000261443.5_Missense_Mutation_p.D4Y|CSDE1_ENST00000358528.4_Missense_Mutation_p.D4Y|CSDE1_ENST00000339438.6_Missense_Mutation_p.D4Y|CSDE1_ENST00000369530.1_Missense_Mutation_p.D50Y|CSDE1_ENST00000534699.1_Missense_Mutation_p.D4Y|CSDE1_ENST00000530886.1_Intron	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	4	CSD 1.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTTTGGATCAAAGCTCATC	0.343													False	0	True	1:115282502	0	A	115282502	C	A	115282502	3	1	143	1	0	0	0	0	1	0	0	0	3954	826	29	3	2458	3	CSDE1	1	115282502	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	47945359	115282502	133968119	8	34058											
SYCP1	6847	broad.mit.edu	37	chr1	115455754	115455754	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaccctagaactcaagaatCagcaagaagatattaatgtg	8	7	2	5			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115455754C>A	ENST00000369522.3	+	19	1870	c.1630C>A	c.(1630-1632)Cag>Aag	p.Q544K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q544K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	544					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTCAAGAATCAGCAAGAAGA	0.368													False	0	False	1:115455754	0	A	115455754	C	A	115455754	3	1	143	1	0	0	0	0	1	0	0	0	15513	827	29	3	1700	3	SYCP1	1	115455754	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	173252	115455754	133794867	9	34059											
NGF	4803	broad.mit.edu	37	chr1	115829233	115829233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtctgccccgccacgcGtgcagctatcgccgctgccg	14	18	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115829233G>A	ENST00000369512.2	-	3	352	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	62					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCCGCCACGCGTGCAGCTATC	0.632													False	0	False	1:115829233	0	A	115829233	G	A	115829233	3	1	143	1	0	0	0	0	1	0	0	0	10463	1145	40	1	545	1	NGF	1	115829233	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	373479	115829233	133421388	10	34060											
SPAG17	200162	broad.mit.edu	37	chr1	118598506	118598506	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcttttgtaatccaatcttGaatagattttgcaacaagtt	5	6	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:118598506G>T	ENST00000336338.5	-	19	2637	c.2572C>A	c.(2572-2574)Caa>Aaa	p.Q858K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	858						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATCCAATCTTGAATAGATTTT	0.323													False	0	False	1:118598506	0	T	118598506	G	T	118598506	3	4	143	1	0	0	0	0	1	0	0	0	15061	1299	45	3	4219	3	SPAG17	1	118598506	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	2769273	118598506	130652115	11	34061											
SPAG17	200162	broad.mit.edu	37	chr1	118616493	118616493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atacctgaagcagtactttcGgtttaaaatgttcagtaaaa	7	6	1	1	rs146282295		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:118616493G>T	ENST00000336338.5	-	17	2434	c.2369C>A	c.(2368-2370)cCg>cAg	p.P790Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	790						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAGTACTTTCGGTTTAAAATG	0.428													False	0	False	1:118616493	0	T	118616493	G	T	118616493	3	4	143	1	0	0	0	0	1	0	0	0	15061	1116	39	3	4430	3	SPAG17	1	118616493	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	17987	118616493	130634128	12	34062											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	143	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-YB-A89D-01A-12D-A36O-08	34055022	152671515	96579106	13	34063											
ASH1L	55870	broad.mit.edu	37	chr1	155447701	155447701	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaagtctgtactgccctttCgttagaaggcagtgactcct	9	11	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:155447701C>A	ENST00000368346.3	-	3	5599	c.4960G>T	c.(4960-4962)Gaa>Taa	p.E1654*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.E1654*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1654	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTGCCCTTTCGTTAGAAGGC	0.428													False	0	True	1:155447701	0	A	155447701	C	A	155447701	4	1	143	1	0	0	0	0	0	1	0	0	1045	893	31	3	4038	3	ASH1L	1	155447701	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2776186	155447701	93802920	14	34064											
GON4L	54856	broad.mit.edu	37	chr1	155743000	155743000	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcaaacagggaaattcattCgctataagaaaataaatctc	7	7	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:155743000C>A	ENST00000437809.1	-	18	2474	c.2350_splice	c.e18-1	p.A784_splice	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Splice_Site_p.A784_splice|GON4L_ENST00000361040.5_Splice_Site_p.A784_splice|GON4L_ENST00000368331.1_Splice_Site_p.A784_splice			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	784					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAATTCATTCGCTATAAGAA	0.408													False	0	True	1:155743000	0	A	155743000	C	A	155743000	5	1	143	1	0	0	0	0	0	0	1	0	6617	898	31	3	4547	3	GON4L	1	155743000	Splice_Site	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	295299	155743000	93507621	15	34065											
IQGAP3	128239	broad.mit.edu	37	chr1	156510545	156510545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaggccaatcttgatgtcCatgatgttgaggtcctgctc	11	10	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:156510545C>A	ENST00000361170.2	-	23	2704	c.2694G>T	c.(2692-2694)atG>atT	p.M898I		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	898					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTTGATGTCCATGATGTTGA	0.562													False	0	False	1:156510545	0	A	156510545	C	A	156510545	3	1	143	1	0	0	0	0	1	0	0	0	7866	594	21	3	2265	3	IQGAP3	1	156510545	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	767545	156510545	92740076	16	34066											
RALGPS2	55103	broad.mit.edu	37	chr1	178855151	178855151	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttaagagtgcaacgtttcCaaatgcaggaccaagacatc	8	9	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:178855151C>A	ENST00000367635.3	+	13	1426	c.1088C>A	c.(1087-1089)cCa>cAa	p.P363Q	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Missense_Mutation_p.P328Q|RALGPS2_ENST00000367634.2_Missense_Mutation_p.P363Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	363					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GCAACGTTTCCAAATGCAGGA	0.358													False	0	True	1:178855151	0	A	178855151	C	A	178855151	3	1	143	1	0	0	0	0	1	0	0	0	13097	594	21	3	1134	3	RALGPS2	1	178855151	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	22344606	178855151	70395470	17	34067											
HMCN1	83872	broad.mit.edu	37	chr1	185833685	185833685	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggttctttcatctatgtTttcactgatgctcggtccaa	7	11	4	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:185833685T>G	ENST00000271588.4	+	3	652	c.423T>G	c.(421-423)gtT>gtG	p.V141V	HMCN1_ENST00000367492.2_Silent_p.V141V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	141	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATCTATGTTTTCACTGATG	0.438													False	0	True	1:185833685	0	G	185833685	T	G	185833685	2	3	143	1	0	0	0	0	0	0	0	1	7267	1828	64	4		4	HMCN1	1	185833685	Silent	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	6978534	185833685	63416936	18	34068											
HMCN1	83872	broad.mit.edu	37	chr1	185931765	185931765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattgcctggaccgttaaCgatatgtttatcgtgggttc	11	7	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:185931765C>T	ENST00000271588.4	+	12	2173	c.1944C>T	c.(1942-1944)aaC>aaT	p.N648N	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.N648N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	648	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGACCGTTAACGATATGTTTA	0.413													False	0	False	1:185931765	0	T	185931765	C	T	185931765	2	4	143	1	0	0	0	0	0	0	0	1	7267	535	19	1		1	HMCN1	1	185931765	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	98080	185931765	63318856	19	34069											
RGS13	6003	broad.mit.edu	37	chr1	192627387	192627387	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcacagtgacgagaatattCaattctggatggcatgtgaa	11	6	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:192627387C>A	ENST00000391995.2	+	6	472	c.184C>A	c.(184-186)Caa>Aaa	p.Q62K	RGS13_ENST00000543215.1_Missense_Mutation_p.Q62K|RGS13_ENST00000482095.1_3'UTR	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	62	RGS.					plasma membrane	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						CGAGAATATTCAATTCTGGAT	0.383													False	0	False	1:192627387	0	A	192627387	C	A	192627387	3	1	143	1	0	0	0	0	1	0	0	0	13375	827	29	3	194	3	RGS13	1	192627387	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6695622	192627387	56623234	20	34070											
RBBP5	5929	broad.mit.edu	37	chr1	205073048	205073048	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcaaaagatgccacaacgttCaaatcggagtcatcgtccac	7	12	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:205073048C>A	ENST00000264515.6	-	5	600	c.459G>T	c.(457-459)ttG>ttT	p.L153F	RBBP5_ENST00000367164.1_Missense_Mutation_p.L153F	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	153					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCACAACGTTCAAATCGGAGT	0.458													False	0	True	1:205073048	0	A	205073048	C	A	205073048	3	1	143	1	0	0	0	0	1	0	0	0	13181	825	29	3	1197	3	RBBP5	1	205073048	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	12445661	205073048	44177573	21	34071											
KCNK2	3776	broad.mit.edu	37	chr1	215408472	215408472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaagagattgctgtgaTtgagaacatcaaatagccct	11	6	1	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:215408472T>C	ENST00000444842.2	+	7	1415	c.1265T>C	c.(1264-1266)aTt>aCt	p.I422T	KCNK2_ENST00000391895.2_Missense_Mutation_p.I418T|KCNK2_ENST00000391894.2_Missense_Mutation_p.I407T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	422	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ATTGCTGTGATTGAGAACATC	0.438													False	0	False	1:215408472	0	C	215408472	T	C	215408472	3	2	143	1	0	0	0	0	1	0	0	0	8116	1493	52	4	1334	4	KCNK2	1	215408472	Missense_Mutation	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	10335424	215408472	33842149	22	34072											
HHIPL2	79802	broad.mit.edu	37	chr1	222716940	222716940	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccttcatctcactaattcGgatcttttctaccttcttct	2	13	6	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:222716940G>T	ENST00000343410.6	-	2	971	c.913C>A	c.(913-915)Cga>Aga	p.R305R		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	305					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCACTAATTCGGATCTTTTCT	0.453													False	0	False	1:222716940	0	T	222716940	G	T	222716940	2	4	143	1	0	0	0	0	0	0	0	1	7141	1124	39	3		3	HHIPL2	1	222716940	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7308468	222716940	26533681	23	34073											
ENAH	55740	broad.mit.edu	37	chr1	225718263	225718263	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttgaaaatttaccttctttGaatttccaattcttcttggg	5	8	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:225718263G>T	ENST00000366844.2	-	4	878	c.427C>A	c.(427-429)Caa>Aaa	p.Q143K	ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Missense_Mutation_p.Q143K|ENAH_ENST00000284563.6_Missense_Mutation_p.Q162K	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	143					axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TACCTTCTTTGAATTTCCAAT	0.358													False	0	True	1:225718263	0	T	225718263	G	T	225718263	3	4	143	1	0	0	0	0	1	0	0	0	5143	1299	45	3	1396	3	ENAH	1	225718263	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3001323	225718263	23532358	24	34074											
MTR	4548	broad.mit.edu	37	chr1	237024431	237024431	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttgtcttttttagggcattGaaaaacatattattgaggat	8	3	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:237024431G>T	ENST00000366577.5	+	20	2444	c.2050G>T	c.(2050-2052)Gaa>Taa	p.E684*	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	684	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ttAGGGCATTGAAAAACATAT	0.323													False	0	True	1:237024431	0	T	237024431	G	T	237024431	4	4	143	1	0	0	0	0	0	1	0	0	10025	1291	45	3	2128	3	MTR	1	237024431	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	11306168	237024431	12226190	25	34075											
FH	2271	broad.mit.edu	37	chr1	241665755	241665755	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagcttaccatcattggcttGaaaacattcaactcaaaatg	5	9	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:241665755G>T	ENST00000366560.3	-	8	1262	c.1224C>A	c.(1222-1224)ttC>ttA	p.F408L		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	408					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TCATTGGCTTGAAAACATTCA	0.393			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer				False	0	True	1:241665755	0	T	241665755	G	T	241665755	3	4	143	1	0	0	0	0	1	0	0	0	5915	1281	45	3	320	3	FH	1	241665755	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4641324	241665755	7584866	26	34076											
OR2B11	127623	broad.mit.edu	37	chr1	247614397	247614397	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccttcatatctttatttctCagggtgtaggtgaagggatt	10	7	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:247614397C>A	ENST00000318749.6	-	1	911	c.888G>T	c.(886-888)ctG>ctT	p.L296L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTTTATTTCTCAGGGTGTAGG	0.478													False	0	False	1:247614397	0	A	247614397	C	A	247614397	2	1	143	1	0	0	0	0	0	0	0	1	11056	813	29	3		3	OR2B11	1	247614397	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5948642	247614397	1636224	27	34077											
MBOAT2	129642	broad.mit.edu	37	chr2	9004330	9004330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagagctgtctgaatattcCaattatcaagaaacatcttg	6	7	3	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:9004330C>A	ENST00000305997.3	-	10	1220	c.1022G>T	c.(1021-1023)tGg>tTg	p.W341L	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	341					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.W341L(1)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGAATATTCCAATTATCAAG	0.328													False	0	False	2:9004330	0	A	9004330	C	A	9004330	3	1	143	1	0	0	0	0	1	0	0	0	9424	595	21	3	556	3	MBOAT2	2	9004330	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		9004330	234195043	28	34078											
TCF23	150921	broad.mit.edu	37	chr2	27373013	27373013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggccagtcctgagaatgCcgcgcgggagcggagccggg	19	12	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:27373013C>T	ENST00000296096.5	+	2	375	c.245C>T	c.(244-246)gCc>gTc	p.A82V		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	82					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAGAATGCCGCGCGGGAG	0.652													False	0	True	2:27373013	0	T	27373013	C	T	27373013	3	4	143	1	0	0	0	0	1	0	0	0	15774	739	26	2	251	2	TCF23	2	27373013	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	18368683	27373013	215826360	29	34079											
BIRC6	57448	broad.mit.edu	37	chr2	32613902	32613902	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgaactcaagaaaataaatCaaaatgttgctgccttacct	5	8	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:32613902C>A	ENST00000421745.2	+	4	864	c.730C>A	c.(730-732)Caa>Aaa	p.Q244K		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	244					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAAAATAAATCAAAATGTTGC	0.463													False	0	True	2:32613902	0	A	32613902	C	A	32613902	3	1	143	1	0	0	0	0	1	0	0	0	1443	827	29	3	744	3	BIRC6	2	32613902	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5240889	32613902	210585471	30	34080											
CRIM1	51232	broad.mit.edu	37	chr2	36669819	36669819	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagaccgcgtgtcccccGgacagctatgaaactcaagt	10	14	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:36669819G>T	ENST00000280527.2	+	4	1177	c.810G>T	c.(808-810)ccG>ccT	p.P270P		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	270					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CGTGTCCCCCGGACAGCTATG	0.478													False	0	True	2:36669819	0	T	36669819	G	T	36669819	2	4	143	1	0	0	0	0	0	0	0	1	3896	1103	39	3		3	CRIM1	2	36669819	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4055917	36669819	206529554	31	34081											
MSH6	2956	broad.mit.edu	37	chr2	48032777	48032777	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgaaagtacattttttgttGaattaagtgaaactgccagc	9	5	0	3	rs63751328		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:48032777G>T	ENST00000234420.4	+	7	3729	c.3577G>T	c.(3577-3579)Gaa>Taa	p.E1193*	MSH6_ENST00000538136.1_Nonsense_Mutation_p.E891*|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1063*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1193			E -> K (found in an endometrial cancer sample; displays marked impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity).		determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTTTTTGTTGAATTAAGTGA	0.303			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				False	0	False	2:48032777	0	T	48032777	G	T	48032777	4	4	143	1	0	0	0	0	0	1	0	0	9941	1291	45	3	3603	3	MSH6	2	48032777	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	11362958	48032777	195166596	32	34082											
CCDC88A	55704	broad.mit.edu	37	chr2	55570840	55570840	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttcccagccaagatgtaatGattcatccatactttgtttc	6	10	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:55570840G>T	ENST00000436346.1	-	12	2118	c.1277C>A	c.(1276-1278)tCa>tAa	p.S426*	CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.S426*|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	426					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AAGATGTAATGATTCATCCAT	0.318													False	0	False	2:55570840	0	T	55570840	G	T	55570840	4	4	143	1	0	0	0	0	0	1	0	0	2884	1294	45	3	4422	3	CCDC88A	2	55570840	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7538063	55570840	187628533	33	34083											
KIAA1841	84542	broad.mit.edu	37	chr2	61319641	61319641	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagtatttgaatagtcttttCgaagaattaaaatcttggag	9	3	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:61319641C>A	ENST00000402291.1	+	11	1372	c.1131C>A	c.(1129-1131)ttC>ttA	p.F377L	KIAA1841_ENST00000295031.5_Missense_Mutation_p.F377L|KIAA1841_ENST00000453873.1_Missense_Mutation_p.F377L|KIAA1841_ENST00000356719.2_Missense_Mutation_p.F377L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	377										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATAGTCTTTTCGAAGAATTAA	0.313													False	0	True	2:61319641	0	A	61319641	C	A	61319641	3	1	143	1	0	0	0	0	1	0	0	0	8311	883	31	3	1165	3	KIAA1841	2	61319641	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5748801	61319641	181879732	34	34084											
SLC1A4	6509	broad.mit.edu	37	chr2	65228619	65228619	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttgtggttgcagctttcCgtacggtaaggcttgatact	11	8	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:65228619C>A	ENST00000234256.3	+	2	808	c.565C>A	c.(565-567)Cgt>Agt	p.R189S	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_5'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	189					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TGCAGCTTTCCGTACGGTAAG	0.373													False	0	False	2:65228619	0	A	65228619	C	A	65228619	3	1	143	1	0	0	0	0	1	0	0	0	14515	652	23	3	571	3	SLC1A4	2	65228619	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3908978	65228619	177970754	35	34085											
CNRIP1	25927	broad.mit.edu	37	chr2	68544303	68544303	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttaccggcatggtgatctGgatgggttgccgttctccac	12	12	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:68544303G>A	ENST00000263655.3	-	2	921	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	CNRIP1_ENST00000409862.1_Nonsense_Mutation_p.Q106*|CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Nonsense_Mutation_p.Q106*	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	106							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						ATGGTGATCTGGATGGGTTGC	0.468													False	0	False	2:68544303	0	A	68544303	G	A	68544303	4	1	143	1	0	0	0	0	0	1	0	0	3656	1357	47	2	247	2	CNRIP1	2	68544303	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3315684	68544303	174655070	36	34086											
DYSF	8291	broad.mit.edu	37	chr2	71891480	71891480	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgacctcctctccaaggacGaaaagatcggtgagacggtc	11	11	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:71891480G>T	ENST00000258104.3	+	45	5246	c.4969G>T	c.(4969-4971)Gaa>Taa	p.E1657*	DYSF_ENST00000409762.1_Nonsense_Mutation_p.E1674*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Nonsense_Mutation_p.E1689*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E1658*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E1696*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E1678*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E1675*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E1665*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E1695*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E1679*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E1688*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1657	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCCAAGGACGAAAAGATCGG	0.552													False	0	True	2:71891480	0	T	71891480	G	T	71891480	4	4	143	1	0	0	0	0	0	1	0	0	4889	1059	37	3	5406	3	DYSF	2	71891480	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3347177	71891480	171307893	37	34087											
NAT8	9027	broad.mit.edu	37	chr2	73868603	73868603	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagagaccaggagtagggcGaggggccccccaagtaagag	16	11	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:73868603G>A	ENST00000272425.3	-	2	302	c.153C>T	c.(151-153)ctC>ctT	p.L51L		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	51					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	p.L51L(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GGAGTAGGGCGAGGGGCCCCC	0.612													False	0	False	2:73868603	0	A	73868603	G	A	73868603	2	1	143	1	0	0	0	0	0	0	0	1	10246	1045	37	1		1	NAT8	2	73868603	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	1977123	73868603	169330770	38	34088											
TGOLN2	10618	broad.mit.edu	37	chr2	85554478	85554478	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagtctgcagctccggatgcGacttactagtgctgtctttt	11	10	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:85554478G>T	ENST00000377386.3	-	2	839	c.377C>A	c.(376-378)tCg>tAg	p.S126*	TGOLN2_ENST00000444342.2_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000409232.3_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000409015.1_Nonsense_Mutation_p.S126*			O43493	TGON2_HUMAN	trans-golgi network protein 2	126	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CTCCGGATGCGACTTACTAGT	0.592													False	0	False	2:85554478	0	T	85554478	G	T	85554478	4	4	143	1	0	0	0	0	0	1	0	0	15918	1059	37	3	948	3	TGOLN2	2	85554478	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	11685875	85554478	157644895	39	34089											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	143	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-YB-A89D-01A-12D-A36O-08	12292887	97847365	145352008	40	34090											
TMEM131	23505	broad.mit.edu	37	chr2	98422018	98422018	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tataatatcttcaaacctttGatttttttcctggctccaag	4	9	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:98422018G>T	ENST00000186436.5	-	20	2432	c.2204C>A	c.(2203-2205)tCa>tAa	p.S735*		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	735						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCAAACCTTTGATTTTTTTCC	0.358													False	0	True	2:98422018	0	T	98422018	G	T	98422018	4	4	143	1	0	0	0	0	0	1	0	0	16126	1294	45	3	3535	3	TMEM131	2	98422018	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	574653	98422018	144777355	41	34091											
ANAPC1	64682	broad.mit.edu	37	chr2	112614406	112614406	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatcctttgctggtatgttGgtcactgaaccaaagatgag	11	8	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:112614406G>T	ENST00000341068.3	-	12	2188	c.1416C>A	c.(1414-1416)acC>acA	p.T472T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTGGTATGTTGGTCACTGAAC	0.358													False	0	False	2:112614406	0	T	112614406	G	T	112614406	2	4	143	1	0	0	0	0	0	0	0	1	598	1335	47	3		3	ANAPC1	2	112614406	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	14192388	112614406	130584967	42	34092											
TUBA3E	112714	broad.mit.edu	37	chr2	130949696	130949696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggggctggtagttaatgCccacctgccagagaagggaa	16	8	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:130949696C>T	ENST00000312988.7	-	5	1161	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	354					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GTAGTTAATGCCCACCTGCCA	0.572													False	0	True	2:130949696	0	T	130949696	C	T	130949696	3	4	143	1	0	0	0	0	1	0	0	0	16832	739	26	2	295	2	TUBA3E	2	130949696	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	18335290	130949696	112249677	43	34093											
DARS	1615	broad.mit.edu	37	chr2	136673918	136673918	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcacatgggaactgtttattCactgtttgaatttcagtctg	8	7	4	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:136673918C>A	ENST00000264161.4	-	11	1199	c.984G>T	c.(982-984)gtG>gtT	p.V328V	DARS_ENST00000537273.1_Silent_p.V228V	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	328					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ACTGTTTATTCACTGTTTGAA	0.368													False	0	False	2:136673918	0	A	136673918	C	A	136673918	2	1	143	1	0	0	0	0	0	0	0	1	4266	813	29	3		3	DARS	2	136673918	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5724222	136673918	106525455	44	34094											
LRP1B	53353	broad.mit.edu	37	chr2	141747122	141747122	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtgcaagtttgattggattCatcttcattgctcccacagt	8	9	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:141747122C>A	ENST00000389484.3	-	17	3720	c.2749G>T	c.(2749-2751)Gaa>Taa	p.E917*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	917	LDL-receptor class A 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATTGGATTCATCTTCATTG	0.388										TSP Lung(27;0.18)			False	0	False	2:141747122	0	A	141747122	C	A	141747122	4	1	143	1	0	0	0	0	0	1	0	0	9017	835	29	3	11350	3	LRP1B	2	141747122	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5073204	141747122	101452251	45	34095											
ITGB6	3694	broad.mit.edu	37	chr2	160994703	160994703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccagttccacctcagacCgcagttcctttagttacaac	5	15	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:160994703C>A	ENST00000283249.2	-	9	1352	c.1115G>T	c.(1114-1116)cGg>cTg	p.R372L	ITGB6_ENST00000428609.2_Missense_Mutation_p.R330L|ITGB6_ENST00000409967.2_Missense_Mutation_p.R372L|ITGB6_ENST00000409872.1_Missense_Mutation_p.R372L			P18564	ITB6_HUMAN	integrin, beta 6	372					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CACCTCAGACCGCAGTTCCTT	0.403													False	0	False	2:160994703	0	A	160994703	C	A	160994703	3	1	143	1	0	0	0	0	1	0	0	0	7949	652	23	3	1279	3	ITGB6	2	160994703	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	19247581	160994703	82204670	46	34096											
SCN2A	6326	broad.mit.edu	37	chr2	166226782	166226782	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtattttaccaatgcctgGtgctggctagacttcctgat	10	9	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:166226782G>A	ENST00000357398.3	+	20	4112	c.3822G>A	c.(3820-3822)tgG>tgA	p.W1274*	SCN2A_ENST00000375427.2_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000283256.6_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000375437.2_Nonsense_Mutation_p.W1274*			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1274					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCAATGCCTGGTGCTGGCTAG	0.393													False	0	False	2:166226782	0	A	166226782	G	A	166226782	4	1	143	1	0	0	0	0	0	1	0	0	13997	1270	44	2	3992	2	SCN2A	2	166226782	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	5232079	166226782	76972591	47	34097											
LRP2	4036	broad.mit.edu	37	chr2	170070176	170070176	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaatacttactgcgtctgtGataaacttgaagacccctca	6	11	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:170070176G>T	ENST00000263816.3	-	36	6316	c.6031C>A	c.(6031-6033)Cac>Aac	p.H2011N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2011					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGCGTCTGTGATAAACTTGA	0.393													False	0	False	2:170070176	0	T	170070176	G	T	170070176	3	4	143	1	0	0	0	0	1	0	0	0	9018	1290	45	3	8112	3	LRP2	2	170070176	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3843394	170070176	73129197	48	34098											
TTN	7273	broad.mit.edu	37	chr2	179445134	179445134	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttcctgcatcatatttgttCacattttcacagcgcaagaa	5	10	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:179445134C>A	ENST00000589042.1	-	317	67196	c.66972G>T	c.(66970-66972)gtG>gtT	p.V22324V	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.V19756V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.V20683V|TTN_ENST00000342175.6_Silent_p.V13451V|TTN_ENST00000359218.5_Silent_p.V13384V|TTN_ENST00000460472.2_Silent_p.V13259V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20683	Fibronectin type-III 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATATTTGTTCACATTTTCAC	0.363													False	0	False	2:179445134	0	A	179445134	C	A	179445134	2	1	143	1	0	0	0	0	0	0	0	1	16819	813	29	3		3	TTN	2	179445134	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9374958	179445134	63754239	49	34099											
ZNF385B	151126	broad.mit.edu	37	chr2	180311341	180311341	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttggctttttcttcttctGattcaacaacagtaccggga	7	9	4	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:180311341G>T	ENST00000410066.1	-	7	1430	c.827C>A	c.(826-828)tCa>tAa	p.S276*	ZNF385B_ENST00000409343.1_Nonsense_Mutation_p.S200*|ZNF385B_ENST00000409692.1_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000336917.5_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000466398.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	276						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TTCTTCTTCTGATTCAACAAC	0.478													False	0	True	2:180311341	0	T	180311341	G	T	180311341	4	4	143	1	0	0	0	0	0	1	0	0	17960	1294	45	3	604	3	ZNF385B	2	180311341	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	866207	180311341	62888032	50	34100											
ZC3H15	55854	broad.mit.edu	37	chr2	187370558	187370558	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctacacccagggaacagGtggtgatgaggtaagaggaa	15	8	0	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:187370558G>T	ENST00000337859.6	+	8	1183	c.956G>T	c.(955-957)gGt>gTt	p.G319V	ZC3H15_ENST00000544130.1_Missense_Mutation_p.G114V	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	319						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CAGGGAACAGGTGGTGATGAG	0.428													False	0	False	2:187370558	0	T	187370558	G	T	187370558	3	4	143	1	0	0	0	0	1	0	0	0	17650	1261	44	3	986	3	ZC3H15	2	187370558	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7059217	187370558	55828815	51	34101											
SLC39A10	57181	broad.mit.edu	37	chr2	196548428	196548428	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcactttccttgcagtgtttGaacgtcactcagttattaaa	6	9	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:196548428G>T	ENST00000409086.3	+	3	1289	c.1014G>T	c.(1012-1014)ttG>ttT	p.L338F	SLC39A10_ENST00000359634.5_Missense_Mutation_p.L338F|SLC39A10_ENST00000541054.1_5'UTR	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	338					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGCAGTGTTTGAACGTCACTC	0.313													False	0	True	2:196548428	0	T	196548428	G	T	196548428	3	4	143	1	0	0	0	0	1	0	0	0	14693	1281	45	3	1020	3	SLC39A10	2	196548428	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	9177870	196548428	46650945	52	34102											
CASP10	843	broad.mit.edu	37	chr2	202057794	202057795	+	Frame_Shift_Ins	INS	-	-	ATTATCTTCATCTA													ggaggacctctgcaaaacagINSttgtacctaaacttttgaga							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:202057794_202057795insATTATCTTCATCTA	ENST00000286186.6	+	4	964_965	c.529_530insATTATCTTCATCTA	c.(529-531)gttfs	p.V177fs	CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000448480.1_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000272879.5_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000360132.3_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000313728.7_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000374650.3_Frame_Shift_Ins_p.V177fs	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	177	DED 2.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CTGCAAAACAGTTGTACCTAAA	0.381													False	0	False	2:202057794	0	ATTATCTTCATCTA	202057795	-	ATTATCTTCATCTA	202057794	7	5	143	1	0	1	1	0	0	0	0	0	2689	1029	36	0	539	0	CASP10	2	202057794	Frame_Shift_Ins	INS	-	TCGA-YB-A89D-01A-12D-A36O-08	5509366	202057794	41141579	53	34103											
BCS1L	617	broad.mit.edu	37	chr2	219525978	219525978	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttcagcatgagagtggcCgcatttccactaagtttgaa	9	10	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:219525978C>A	ENST00000431802.1	+	2	967	c.268C>A	c.(268-270)Cgc>Agc	p.R90S	BCS1L_ENST00000359273.3_Missense_Mutation_p.R90S|BCS1L_ENST00000392109.1_Missense_Mutation_p.R90S|BCS1L_ENST00000392110.2_Missense_Mutation_p.R90S|BCS1L_ENST00000439945.1_Missense_Mutation_p.R90S|BCS1L_ENST00000392111.2_Missense_Mutation_p.R90S|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90S			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	90					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGAGTGGCCGCATTTCCAC	0.522													False	0	False	2:219525978	0	A	219525978	C	A	219525978	3	1	143	1	0	0	0	0	1	0	0	0	1393	652	23	3	270	3	BCS1L	2	219525978	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	17468184	219525978	23673395	54	34104											
FBXO36	130888	broad.mit.edu	37	chr2	230861544	230861544	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaggtaaatttgacttccttGaacggctctcagacgatttg	9	8	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:230861544G>T	ENST00000373652.3	+	4	611	c.190G>T	c.(190-192)Gaa>Taa	p.E64*	FBXO36_ENST00000409992.1_Nonsense_Mutation_p.E75*|FBXO36_ENST00000283946.3_Nonsense_Mutation_p.E95*			Q8NEA4	FBX36_HUMAN	F-box protein 36	95										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGACTTCCTTGAACGGCTCTC	0.373													False	0	False	2:230861544	0	T	230861544	G	T	230861544	4	4	143	1	0	0	0	0	0	1	0	0	5785	1291	45	3	293	3	FBXO36	2	230861544	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	11335566	230861544	12337829	55	34105											
GPR35	2859	broad.mit.edu	37	chr2	241569512	241569512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgggtgttctgctgccGcatgcagcagtggacggaga	16	10	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:241569512G>A	ENST00000319838.5	+	6	1085	c.143G>A	c.(142-144)cGc>cAc	p.R48H	GPR35_ENST00000438013.2_Missense_Mutation_p.R79H|GPR35_ENST00000407714.1_Missense_Mutation_p.R48H|GPR35_ENST00000403859.1_Missense_Mutation_p.R48H|GPR35_ENST00000430267.1_Missense_Mutation_p.R48H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	48						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TTCTGCTGCCGCATGCAGCAG	0.647													False	0	False	2:241569512	0	A	241569512	G	A	241569512	3	1	143	1	0	0	0	0	1	0	0	0	6736	1087	38	1	145	1	GPR35	2	241569512	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	10707968	241569512	1629861	56	34106											
HDLBP	3069	broad.mit.edu	37	chr2	242194513	242194513	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggttctgccctttcttgcCaatgatgaaacggtgaagcc	10	11	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:242194513C>A	ENST00000391975.1	-	9	1368	c.1141G>T	c.(1141-1143)Ggc>Tgc	p.G381C	HDLBP_ENST00000391976.2_Missense_Mutation_p.G381C|HDLBP_ENST00000427183.2_Missense_Mutation_p.G348C|HDLBP_ENST00000310931.4_Missense_Mutation_p.G381C	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	381	KH 4.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCTTTCTTGCCAATGATGAAA	0.478													False	0	False	2:242194513	0	A	242194513	C	A	242194513	3	1	143	1	0	0	0	0	1	0	0	0	7072	594	21	3	2745	3	HDLBP	2	242194513	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	625001	242194513	1004860	57	34107											
CRELD1	78987	broad.mit.edu	37	chr3	9982708	9982708	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgccagccatctggtatgttCgggtaggtagccaaaaggtg	14	9	1	0	rs138336691	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:9982708C>G	ENST00000383811.3	+	5	1234	c.635C>G	c.(634-636)tCg>tGg	p.S212W	CRELD1_ENST00000452070.1_Missense_Mutation_p.S212W|CRELD1_ENST00000326434.5_Missense_Mutation_p.S212W|CRELD1_ENST00000397170.3_Missense_Mutation_p.S212W	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	212					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CTGGTATGTTCGGGTAGGTAG	0.632													False	0	True	3:9982708	0	G	9982708	C	G	9982708	3	3	143	1	0	0	0	0	1	0	0	0	3889	893	31	5	653	5	CRELD1	3	9982708	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		9982708	188039722	58	34108											
ATP2B2	491	broad.mit.edu	37	chr3	10452375	10452375	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcggcaatctccaggatgatGagcgtcacgtcctgcagcgc	13	13	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:10452375G>T	ENST00000397077.1	-	5	899	c.324C>A	c.(322-324)ctC>ctA	p.L108L	ATP2B2_ENST00000343816.4_Silent_p.L108L|ATP2B2_ENST00000383800.4_Silent_p.L108L|ATP2B2_ENST00000360273.2_Silent_p.L108L|ATP2B2_ENST00000352432.4_Silent_p.L108L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	108					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCAGGATGATGAGCGTCACGT	0.552													False	0	False	3:10452375	0	T	10452375	G	T	10452375	2	4	143	1	0	0	0	0	0	0	0	1	1144	1277	45	3		3	ATP2B2	3	10452375	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	469667	10452375	187570055	59	34109											
NGLY1	55768	broad.mit.edu	37	chr3	25770651	25770651	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagtctgtttcaacttttctGaatatagattccattttcca	4	9	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:25770651G>T	ENST00000428257.1	-	10	1637	c.1530C>A	c.(1528-1530)ttC>ttA	p.F510L	NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.F528L|NGLY1_ENST00000280700.5_Missense_Mutation_p.F528L|NGLY1_ENST00000417874.2_Missense_Mutation_p.F486L|NGLY1_ENST00000467224.1_5'UTR	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	528	PAW.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAACTTTTCTGAATATAGATT	0.313													False	0	False	3:25770651	0	T	25770651	G	T	25770651	3	4	143	1	0	0	0	0	1	0	0	0	10466	1281	45	3	392	3	NGLY1	3	25770651	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	15318276	25770651	172251779	60	34110											
ZNF502	91392	broad.mit.edu	37	chr3	44762976	44762976	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgggaaaacatttcgatgtCgatcatttcttactcagcat	8	8	3	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:44762976C>A	ENST00000296091.4	+	4	923	c.667C>A	c.(667-669)Cga>Aga	p.R223R	ZNF502_ENST00000449836.1_Silent_p.R223R|ZNF502_ENST00000436624.2_Silent_p.R223R	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATTTCGATGTCGATCATTTCT	0.398													False	0	False	3:44762976	0	A	44762976	C	A	44762976	2	1	143	1	0	0	0	0	0	0	0	1	18033	876	31	3		3	ZNF502	3	44762976	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	18992325	44762976	153259454	61	34111											
FYCO1	79443	broad.mit.edu	37	chr3	46003868	46003868	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatttttgttgtggctttttCgagttccttctgggtcctgg	12	7	1	0	rs148106976		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:46003868C>A	ENST00000296137.2	-	11	3491	c.3286G>T	c.(3286-3288)Gaa>Taa	p.E1096*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E1096*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1096					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGGCTTTTTCGAGTTCCTTC	0.483													False	0	True	3:46003868	0	A	46003868	C	A	46003868	4	1	143	1	0	0	0	0	0	1	0	0	6167	893	31	3	1182	3	FYCO1	3	46003868	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1240892	46003868	152018562	62	34112											
SPCS1	28972	broad.mit.edu	37	chr3	52741760	52741760	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctcaagtggttacctgttCaagaatcaagcacagacgac	8	11	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:52741760C>A	ENST00000233025.7	+	4	852	c.442C>A	c.(442-444)Caa>Aaa	p.Q148K	SPCS1_ENST00000423431.1_Missense_Mutation_p.Q59K|SPCS1_ENST00000602728.1_Missense_Mutation_p.Q81K	NM_014041.3	NP_054760.3	Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	148					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		GTTACCTGTTCAAGAATCAAG	0.413													False	0	False	3:52741760	0	A	52741760	C	A	52741760	3	1	143	1	0	0	0	0	1	0	0	0	15105	827	29	3	456	3	SPCS1	3	52741760	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6737892	52741760	145280670	63	34113											
PRKCD	5580	broad.mit.edu	37	chr3	53222820	53222820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgtgcaaagagaacatattCggggagagccgggccagcac	14	9	0	2	rs149751382	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:53222820C>A	ENST00000394729.2	+	15	1828	c.1500C>A	c.(1498-1500)ttC>ttA	p.F500L	PRKCD_ENST00000330452.3_Missense_Mutation_p.F500L	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	500	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AGAACATATTCGGGGAGAGCC	0.597													False	0	True	3:53222820	0	A	53222820	C	A	53222820	3	1	143	1	0	0	0	0	1	0	0	0	12585	883	31	3	1554	3	PRKCD	3	53222820	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	481060	53222820	144799610	64	34114											
PTPRG	5793	broad.mit.edu	37	chr3	62268492	62268492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacctttgaacttatcaacGtcatcaaggaagaggcctta	8	9	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:62268492G>A	ENST00000474889.1	+	28	4380	c.4003G>A	c.(4003-4005)Gtc>Atc	p.V1335I	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.V1306I	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1335	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACTTATCAACGTCATCAAGGA	0.398													False	0	False	3:62268492	0	A	62268492	G	A	62268492	3	1	143	1	0	0	0	0	1	0	0	0	12881	1145	40	1	4113	1	PTPRG	3	62268492	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	9045672	62268492	135753938	65	34115											
TMF1	7110	broad.mit.edu	37	chr3	69073265	69073265	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcttcaagttcatcattttGatttgttaatttaactagtt	4	6	4	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:69073265G>T	ENST00000543976.1	-	16	3334	c.3088C>A	c.(3088-3090)Caa>Aaa	p.Q1030K	CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.Q1027K|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	1027					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.Q1027E(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCATCATTTTGATTTGTTAAT	0.323													False	0	True	3:69073265	0	T	69073265	G	T	69073265	3	4	143	1	0	0	0	0	1	0	0	0	16310	1299	45	3	210	3	TMF1	3	69073265	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	6804773	69073265	128949165	66	34116											
IMPG2	50939	broad.mit.edu	37	chr3	101038452	101038452	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactttaaaatacttcacatGatttgccacagcctctgcaa	5	11	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:101038452G>T	ENST00000193391.7	-	2	497	c.310C>A	c.(310-312)Cat>Aat	p.H104N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	104					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TACTTCACATGATTTGCCACA	0.378													False	0	False	3:101038452	0	T	101038452	G	T	101038452	3	4	143	1	0	0	0	0	1	0	0	0	7779	1290	45	3	3487	3	IMPG2	3	101038452	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	31965187	101038452	96983978	67	34117											
COL6A5	256076	broad.mit.edu	37	chr3	130174477	130174477	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatcaattatgaaaaagatCaaaaatctgcagaaattgca	6	5	3	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:130174477C>A	ENST00000265379.6	+	37	7251	c.6757C>A	c.(6757-6759)Caa>Aaa	p.Q2253K	COL6A5_ENST00000432398.2_Missense_Mutation_p.Q2253K			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2253	Nonhelical region.				axon guidance|cell adhesion	collagen		p.Q292K(1)|p.Q2253K(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGAAAAAGATCAAAAATCTGC	0.333													False	0	True	3:130174477	0	A	130174477	C	A	130174477	3	1	143	1	0	0	0	0	1	0	0	0	3725	827	29	3	6899	3	COL6A5	3	130174477	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	29136025	130174477	67847953	68	34118											
ATR	545	broad.mit.edu	37	chr3	142231128	142231128	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtctaccttatttctgtttGatttgctgtgtggacatttc	8	7	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:142231128G>T	ENST00000350721.4	-	27	4947	c.4826C>A	c.(4825-4827)tCa>tAa	p.S1609*	ATR_ENST00000383101.3_Nonsense_Mutation_p.S1545*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1609					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATTTCTGTTTGATTTGCTGTG	0.388								Other conserved DNA damage response genes					False	0	True	3:142231128	0	T	142231128	G	T	142231128	4	4	143	1	0	0	0	0	0	1	0	0	1208	1294	45	3	3192	3	ATR	3	142231128	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	12056651	142231128	55791302	69	34119											
PLCH1	23007	broad.mit.edu	37	chr3	155241698	155241698	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caacttacataatggagcttGaatttgcactcgtcttcaat	6	9	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:155241698G>T	ENST00000460012.1	-	11	1725	c.1368C>A	c.(1366-1368)ttC>ttA	p.F456L	PLCH1_ENST00000447496.2_Missense_Mutation_p.F474L|PLCH1_ENST00000494598.1_Missense_Mutation_p.F474L|PLCH1_ENST00000414191.1_Missense_Mutation_p.F456L|PLCH1_ENST00000340059.7_Missense_Mutation_p.F474L|PLCH1_ENST00000334686.6_Missense_Mutation_p.F456L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	474					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATGGAGCTTGAATTTGCACT	0.423													False	0	False	3:155241698	0	T	155241698	G	T	155241698	3	4	143	1	0	0	0	0	1	0	0	0	12106	1281	45	3	3730	3	PLCH1	3	155241698	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	13010570	155241698	42780732	70	34120											
SI	6476	broad.mit.edu	37	chr3	164757744	164757744	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgtcctcaatccagctgttCgtatcctcataaaacctaag	6	12	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:164757744C>A	ENST00000264382.3	-	19	2237	c.2175G>T	c.(2173-2175)acG>acT	p.T725T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	725	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCAGCTGTTCGTATCCTCAT	0.333										HNSCC(35;0.089)			False	0	False	3:164757744	0	A	164757744	C	A	164757744	2	1	143	1	0	0	0	0	0	0	0	1	14378	871	31	3		3	SI	3	164757744	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9516046	164757744	33264686	71	34121											
ECT2	1894	broad.mit.edu	37	chr3	172473162	172473162	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaacttataaaagccttaAaggtacggagttttaggttt	9	4	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:172473162A>C	ENST00000417960.1	+	4	682	c.205A>C	c.(205-207)Aag>Cag	p.K69Q	ECT2_ENST00000232458.5_Missense_Mutation_p.K70Q|ECT2_ENST00000441497.2_Missense_Mutation_p.K70Q|ECT2_ENST00000392692.3_Missense_Mutation_p.K70Q|ECT2_ENST00000540509.1_Missense_Mutation_p.K70Q|ECT2_ENST00000427830.1_Missense_Mutation_p.K70Q	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	70					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAGCCTTAAAGGTACGGAG	0.313													False	0	True	3:172473162	0	C	172473162	A	C	172473162	3	2	143	1	0	0	0	0	1	0	0	0	4931	15	1	4	214	4	ECT2	3	172473162	Missense_Mutation	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	7715418	172473162	25549268	72	34122											
ST6GAL1	6480	broad.mit.edu	37	chr3	186791961	186791961	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcagtggtaccagaatccGgattataatttctttaacaa	6	7	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:186791961G>T	ENST00000169298.3	+	7	1493	c.819G>T	c.(817-819)ccG>ccT	p.P273P	ST6GAL1_ENST00000457772.2_Silent_p.P42P|ST6GAL1_ENST00000448044.1_Silent_p.P273P	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	273					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		ACCAGAATCCGGATTATAATT	0.483													False	0	False	3:186791961	0	T	186791961	G	T	186791961	2	4	143	1	0	0	0	0	0	0	0	1	15303	1103	39	3		3	ST6GAL1	3	186791961	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	14318799	186791961	11230469	73	34123											
PPP1R2	5504	broad.mit.edu	37	chr3	195245823	195245823	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagacatctaaccttgatttGattcttccgtattcatgctt	5	10	3	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:195245823G>T	ENST00000328432.3	-	5	923	c.563C>A	c.(562-564)tCa>tAa	p.S188*		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	188					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		ACCTTGATTTGATTCTTCCGT	0.338													False	0	True	3:195245823	0	T	195245823	G	T	195245823	4	4	143	1	0	0	0	0	0	1	0	0	12444	1294	45	3	62	3	PPP1R2	3	195245823	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	8453862	195245823	2776607	74	34124											
RGS12	6002	broad.mit.edu	37	chr4	3419185	3419185	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggacagcgagaagaagcGgaaaggcgcgtttttctcgt	15	7	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:3419185G>T	ENST00000336727.3	+	9	3582	c.2678G>T	c.(2677-2679)cGg>cTg	p.R893L	RGS12_ENST00000306648.7_Missense_Mutation_p.R291L|RGS12_ENST00000538395.1_Missense_Mutation_p.R235L|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.R893L|RGS12_ENST00000338806.4_Missense_Mutation_p.R245L|RGS12_ENST00000344733.5_Missense_Mutation_p.R893L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	893						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGAAGAAGCGGAAAGGCGCG	0.552													False	0	False	4:3419185	0	T	3419185	G	T	3419185	3	4	143	1	0	0	0	0	1	0	0	0	13374	1116	39	3	2766	3	RGS12	4	3419185	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08		3419185	187735091	75	34125											
SLIT2	9353	broad.mit.edu	37	chr4	20525792	20525792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaaagcaagaaattccGttgttcaggtaatttcttca	7	7	4	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:20525792G>A	ENST00000504154.1	+	14	1682	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	SLIT2_ENST00000273739.5_Missense_Mutation_p.R481H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R477H|SLIT2_ENST00000503837.1_Missense_Mutation_p.R481H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	477	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAAATTCCGTTGTTCAGGT	0.478													False	0	False	4:20525792	0	A	20525792	G	A	20525792	3	1	143	1	0	0	0	0	1	0	0	0	14820	1145	40	1	1484	1	SLIT2	4	20525792	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	17106607	20525792	170628484	76	34126											
SLIT2	9353	broad.mit.edu	37	chr4	20541152	20541152	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctttctttgtatgataatCaaattactacagttgcacca	5	8	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:20541152C>A	ENST00000504154.1	+	19	2173	c.1921C>A	c.(1921-1923)Caa>Aaa	p.Q641K	SLIT2_ENST00000273739.5_Missense_Mutation_p.Q645K|SLIT2_ENST00000503823.1_Missense_Mutation_p.Q633K|SLIT2_ENST00000503837.1_Missense_Mutation_p.Q637K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	641					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.Q641K(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTATGATAATCAAATTACTAC	0.378													False	0	True	4:20541152	0	A	20541152	C	A	20541152	3	1	143	1	0	0	0	0	1	0	0	0	14820	827	29	3	1995	3	SLIT2	4	20541152	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	15360	20541152	170613124	77	34127											
GUF1	60558	broad.mit.edu	37	chr4	44693722	44693722	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaatatgatatttattgatCaaaatagagttatgcttaaa	6	2	1	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:44693722C>A	ENST00000281543.5	+	13	1713	c.1519C>A	c.(1519-1521)Caa>Aaa	p.Q507K	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	507					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATTTATTGATCAAAATAGAGT	0.318													False	0	True	4:44693722	0	A	44693722	C	A	44693722	3	1	143	1	0	0	0	0	1	0	0	0	6946	827	29	3	1569	3	GUF1	4	44693722	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	24152570	44693722	146460554	78	34128											
FRYL	285527	broad.mit.edu	37	chr4	48503669	48503669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attttttatcgtatttacttGgttgataagtttacagtagg	8	3	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:48503669G>T	ENST00000537810.1	-	62	9167	c.8563C>A	c.(8563-8565)Caa>Aaa	p.Q2855K	FRYL_ENST00000507873.2_Missense_Mutation_p.Q245K|FRYL_ENST00000264319.7_Missense_Mutation_p.Q245K|FRYL_ENST00000503238.1_Missense_Mutation_p.Q2855K|FRYL_ENST00000358350.4_Missense_Mutation_p.Q2855K			O94915	FRYL_HUMAN	FRY-like	2855					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTATTTACTTGGTTGATAAGT	0.294													False	0	False	4:48503669	0	T	48503669	G	T	48503669	3	4	143	1	0	0	0	0	1	0	0	0	6106	1357	47	3	490	3	FRYL	4	48503669	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3809947	48503669	142650607	79	34129											
SPATA18	132671	broad.mit.edu	37	chr4	52960706	52960706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccagatgtctcgaagtcGgagtccttctccaataagat	8	10	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:52960706G>A	ENST00000295213.4	+	12	1951	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	SPATA18_ENST00000419395.2_Missense_Mutation_p.R494Q	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	526					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCTCGAAGTCGGAGTCCTTCT	0.348													False	0	False	4:52960706	0	A	52960706	G	A	52960706	3	1	143	1	0	0	0	0	1	0	0	0	15085	1116	39	1	1623	1	SPATA18	4	52960706	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4457037	52960706	138193570	80	34130											
CEP135	9662	broad.mit.edu	37	chr4	56890672	56890672	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatctttactaacagagaacGagcaatccaagagatgcgtc	9	9	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:56890672G>T	ENST00000257287.4	+	25	3450	c.3326G>T	c.(3325-3327)cGa>cTa	p.R1109L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1109					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.R1109L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AACAGAGAACGAGCAATCCAA	0.378													False	0	False	4:56890672	0	T	56890672	G	T	56890672	3	4	143	1	0	0	0	0	1	0	0	0	3270	1058	37	3	3420	3	CEP135	4	56890672	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3929966	56890672	134263604	81	34131											
UGT2B10	7365	broad.mit.edu	37	chr4	69683833	69683833	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttaaatttcctcatccaTtcttaccaaatgttgatttt	2	8	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:69683833T>C	ENST00000265403.7	+	2	832	c.805T>C	c.(805-807)Ttc>Ctc	p.F269L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	269					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCCTCATCCATTCTTACCAAA	0.388													False	0	False	4:69683833	0	C	69683833	T	C	69683833	3	2	143	1	0	0	0	0	1	0	0	0	17040	1493	52	4	811	4	UGT2B10	4	69683833	Missense_Mutation	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	12793161	69683833	121470443	82	34132											
CCDC158	339965	broad.mit.edu	37	chr4	77276555	77276555	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctgacctcttttggctgtGatttgcttttgcatccccat	7	11	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:77276555G>T	ENST00000388914.3	-	14	2360	c.2208C>A	c.(2206-2208)atC>atA	p.I736I		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	736										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTTTGGCTGTGATTTGCTTTT	0.408													False	0	False	4:77276555	0	T	77276555	G	T	77276555	2	4	143	1	0	0	0	0	0	0	0	1	2811	1280	45	3		3	CCDC158	4	77276555	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7592722	77276555	113877721	83	34133											
ADH1A	124	broad.mit.edu	37	chr4	100203666	100203666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttgttgatgtccaccGcaatgattctggctgcccca	9	13	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:100203666G>A	ENST00000209668.2	-	6	778	c.665C>T	c.(664-666)gCg>gTg	p.A222V	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	222					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GATGTCCACCGCAATGATTCT	0.532													False	0	False	4:100203666	0	A	100203666	G	A	100203666	3	1	143	1	0	0	0	0	1	0	0	0	307	1087	38	1	478	1	ADH1A	4	100203666	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	22927111	100203666	90950610	84	34134											
EGF	1950	broad.mit.edu	37	chr4	110885582	110885582	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaccatttttgctgtttgcCaattctcaagatattcgaca	5	10	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:110885582C>A	ENST00000265171.5	+	10	1909	c.1464C>A	c.(1462-1464)gcC>gcA	p.A488A	EGF_ENST00000503392.1_Silent_p.A488A|EGF_ENST00000509793.1_Silent_p.A446A	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	488					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGCTGTTTGCCAATTCTCAAG	0.418													False	0	False	4:110885582	0	A	110885582	C	A	110885582	2	1	143	1	0	0	0	0	0	0	0	1	4992	581	21	3		3	EGF	4	110885582	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	10681916	110885582	80268694	85	34135											
TIFA	92610	broad.mit.edu	37	chr4	113199421	113199421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatgacagatgttggaatttCggccaaatttcaccacttcg	8	9	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:113199421C>A	ENST00000361717.2	-	2	433	c.152G>T	c.(151-153)cGa>cTa	p.R51L	TIFA_ENST00000500655.2_Missense_Mutation_p.R51L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	51	FHA.						protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		GTTGGAATTTCGGCCAAATTT	0.413													False	0	True	4:113199421	0	A	113199421	C	A	113199421	3	1	143	1	0	0	0	0	1	0	0	0	15976	884	31	3	406	3	TIFA	4	113199421	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2313839	113199421	77954855	86	34136											
CCDC127	133957	broad.mit.edu	37	chr5	205888	205888	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagagataagggcttctcGgtaactagcagttctgtttt	11	7	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:205888G>A	ENST00000296824.3	-	3	439	c.307C>T	c.(307-309)Cga>Tga	p.R103*		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	103										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			AGGGCTTCTCGGTAACTAGCA	0.498													False	0	False	5:205888	0	A	205888	G	A	205888	4	1	143	1	0	0	0	0	0	1	0	0	2783	1124	39	1	479	1	CCDC127	5	205888	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08		205888	180709372	87	34137											
IRX2	153572	broad.mit.edu	37	chr5	2749639	2749639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgttctccttcttgaggCgccggcgcgcgttggcgaac	13	13	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:2749639C>T	ENST00000382611.6	-	2	760	c.512G>A	c.(511-513)cGc>cAc	p.R171H	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.R171H	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	171						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CTTCTTGAGGCGCCGGCGCGC	0.592													False	0	False	5:2749639	0	T	2749639	C	T	2749639	3	4	143	1	0	0	0	0	1	0	0	0	7894	768	27	1	915	1	IRX2	5	2749639	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2543751	2749639	178165621	88	34138											
MCCC2	64087	broad.mit.edu	37	chr5	70931068	70931068	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaagaggagctttgatgtcCgagaggtatgtgaaagtgga	15	3	0	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:70931068C>A	ENST00000340941.6	+	10	1123	c.994C>A	c.(994-996)Cga>Aga	p.R332R	MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000509358.2_Silent_p.R332R|MCCC2_ENST00000323375.8_Silent_p.R294R	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	332	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTTTGATGTCCGAGAGGTATG	0.393													False	0	False	5:70931068	0	A	70931068	C	A	70931068	2	1	143	1	0	0	0	0	0	0	0	1	9442	644	23	3		3	MCCC2	5	70931068	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	68181429	70931068	109984192	89	34139											
COL4A3BP	10087	broad.mit.edu	37	chr5	74754979	74754979	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actatcatttacactaatatCaaatcgacattcatcaaaat	1	9	4	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:74754979C>A	ENST00000380494.5	-	4	936	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	COL4A3BP_ENST00000405807.4_Missense_Mutation_p.D87Y|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.D87Y	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	87					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACACTAATATCAAATCGACAT	0.378													False	0	True	5:74754979	0	A	74754979	C	A	74754979	3	1	143	1	0	0	0	0	1	0	0	0	3715	826	29	3	1675	3	COL4A3BP	5	74754979	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3823911	74754979	106160281	90	34140											
DCP2	167227	broad.mit.edu	37	chr5	112321534	112321534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgttttgtttttgacagccGatttattttgcatattccca	7	7	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:112321534G>T	ENST00000389063.2	+	2	254	c.56G>T	c.(55-57)cGa>cTa	p.R19L	DCP2_ENST00000515408.1_Missense_Mutation_p.R19L|DCP2_ENST00000543319.1_Intron	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	19					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTTGACAGCCGATTTATTTTG	0.358													False	0	True	5:112321534	0	T	112321534	G	T	112321534	3	4	143	1	0	0	0	0	1	0	0	0	4325	1058	37	3	62	3	DCP2	5	112321534	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	37566555	112321534	68593726	91	34141											
CEP120	153241	broad.mit.edu	37	chr5	122722255	122722255	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgaggcatagttgcaaaatCaaatgcacagtaagactggg	11	6	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:122722255C>A	ENST00000306467.5	-	10	1841	c.1537G>T	c.(1537-1539)Gat>Tat	p.D513Y	CEP120_ENST00000306481.6_Missense_Mutation_p.D487Y|CEP120_ENST00000328236.5_Missense_Mutation_p.D513Y			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	513						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GTTGCAAAATCAAATGCACAG	0.348													False	0	True	5:122722255	0	A	122722255	C	A	122722255	3	1	143	1	0	0	0	0	1	0	0	0	3269	826	29	3	1467	3	CEP120	5	122722255	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	10400721	122722255	58193005	92	34142											
SRA1	10011	broad.mit.edu	37	chr5	139931627	139931628	+	In_Frame_Ins	INS	-	-	AGT													gtctcagcacatcctccatcINSacagcctcagactcgactgg					rs148588257	by1000genomes	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:139931627_139931628insAGT	ENST00000336283.6	-	3	1150_1151	c.329_330insACT	c.(328-330)gtg>gtACTg	p.110_111insL	SRA1_ENST00000520427.1_5'UTR	NM_001035235.3	NP_001030312.2	Q9HD15	SRA1_HUMAN	steroid receptor RNA activator 1	110				V -> RL (in Ref. 1; AAG02116 and 2; AAL55868).	apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCTCCATCACAGCCTCAGA	0.589													False	0	False	5:139931627	0	AGT	139931628	-	AGT	139931627	7	5	143	1	0	1	1	0	0	0	0	0	15214	813	29	0	392	0	SRA1	5	139931627	In_Frame_Ins	INS	-	TCGA-YB-A89D-01A-12D-A36O-08	17209372	139931627	40983633	93	34143											
PCDHA9	0	broad.mit.edu	37	chr5	140228096	140228096	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgaaatgttatactcaagtCgaggagatccagagggtcag	12	6	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:140228096C>T	ENST00000378122.3	+	1	740	c.16C>T	c.(16-18)Cga>Tga	p.R6*	PCDHA9_ENST00000532602.1_Nonsense_Mutation_p.R6*|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACTCAAGTCGAGGAGATCC	0.488													False	0	False	5:140228096	0	T	140228096	C	T	140228096	4	4	143	1	0	0	0	0	0	1	0	0	11599	876	31	1	18	1	PCDHA9	5	140228096	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	296469	140228096	40687164	94	34144											
SH3TC2	79628	broad.mit.edu	37	chr5	148417924	148417924	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccacttgtcctgaacttgtcGactttccaatgaaccactga	6	13	0	3	rs151205080	by1000genomes	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:148417924G>T	ENST00000515425.1	-	8	1036	c.935C>A	c.(934-936)tCg>tAg	p.S312*	SH3TC2_ENST00000394358.2_Nonsense_Mutation_p.S197*|SH3TC2_ENST00000512049.1_Nonsense_Mutation_p.S305*|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	312	SH3.						binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACTTGTCGACTTTCCAAT	0.468													False	0	False	5:148417924	0	T	148417924	G	T	148417924	4	4	143	1	0	0	0	0	0	1	0	0	14343	1059	37	3	2971	3	SH3TC2	5	148417924	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	8189828	148417924	32497336	95	34145											
ANXA6	309	broad.mit.edu	37	chr5	150488089	150488089	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctccacgtcatagttggtCatcttgatgaactcctggaa	9	10	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:150488089C>A	ENST00000354546.5	-	23	1934	c.1707G>T	c.(1705-1707)atG>atT	p.M569I	ANXA6_ENST00000523714.1_Missense_Mutation_p.M537I|ANXA6_ENST00000521512.1_Missense_Mutation_p.M356I|ANXA6_ENST00000377751.5_Missense_Mutation_p.M226I|ANXA6_ENST00000356496.5_Missense_Mutation_p.M563I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	569						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATAGTTGGTCATCTTGATGA	0.577													False	0	False	5:150488089	0	A	150488089	C	A	150488089	3	1	143	1	0	0	0	0	1	0	0	0	722	826	29	3	330	3	ANXA6	5	150488089	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2070165	150488089	30427171	96	34146											
NPM1	4869	broad.mit.edu	37	chr5	170827880	170827880	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agccaaaaatgcacaaaagtCaaatcagaatggaaaagact	7	7	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:170827880C>A	ENST00000296930.5	+	8	921	c.620C>A	c.(619-621)tCa>tAa	p.S207*	NPM1_ENST00000517671.1_Nonsense_Mutation_p.S207*|NPM1_ENST00000351986.6_Intron|NPM1_ENST00000393820.2_Nonsense_Mutation_p.S207*	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	207					anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCACAAAAGTCAAATCAGAAT	0.388			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"								False	0	True	5:170827880	0	A	170827880	C	A	170827880	4	1	143	1	0	0	0	0	0	1	0	0	10655	838	29	3	650	3	NPM1	5	170827880	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	20339791	170827880	10087380	97	34147											
CLK4	57396	broad.mit.edu	37	chr5	178039804	178039804	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtctttaacttaccattttaGaattatatttgactacatag	4	6	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:178039804G>T	ENST00000316308.4	-	8	1082	c.914C>A	c.(913-915)tCt>tAt	p.S305Y		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	305	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TACCATTTTAGAATTATATTT	0.289													False	0	False	5:178039804	0	T	178039804	G	T	178039804	3	4	143	1	0	0	0	0	1	0	0	0	3562	942	33	3	555	3	CLK4	5	178039804	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7211924	178039804	2875456	98	34148											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552049	178552049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcggctctcgggccgggcGtcattgcagtgcttggcgtg	18	12	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:178552049G>A	ENST00000251582.7	-	19	2984	c.2883C>T	c.(2881-2883)gaC>gaT	p.D961D		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	961	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGGCCGGGCGTCATTGCAGT	0.701													False	0	False	5:178552049	0	A	178552049	G	A	178552049	2	1	143	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178552049	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	512245	178552049	2363211	99	34149											
EXOC2	55770	broad.mit.edu	37	chr6	549213	549213	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccctggaagttgtgcttttCaaaatgttctgcgatattta	8	7	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:549213C>A	ENST00000230449.4	-	22	2335	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	EXOC2_ENST00000448181.3_Nonsense_Mutation_p.E329*	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	734					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTGTGCTTTTCAAAATGTTCT	0.388													False	0	True	6:549213	0	A	549213	C	A	549213	4	1	143	1	0	0	0	0	0	1	0	0	5334	835	29	3	602	3	EXOC2	6	549213	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		549213	170565854	100	34150											
LY86	9450	broad.mit.edu	37	chr6	6625213	6625213	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgttccaagcaattaaaatCaaatatcaacattagatttg	5	6	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:6625213C>A	ENST00000379953.2	+	3	543	c.191C>A	c.(190-192)tCa>tAa	p.S64*	LY86_ENST00000230568.4_Nonsense_Mutation_p.S64*			O95711	LY86_HUMAN	lymphocyte antigen 86	64					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CAATTAAAATCAAATATCAAC	0.313													False	0	True	6:6625213	0	A	6625213	C	A	6625213	4	1	143	1	0	0	0	0	0	1	0	0	9163	838	29	3	197	3	LY86	6	6625213	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6076000	6625213	164489854	101	34151											
RREB1	6239	broad.mit.edu	37	chr6	7182158	7182158	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtcccaatgacgtcaagttCgcccgctggcttggaaggtt	12	11	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:7182158C>A	ENST00000379938.2	+	4	551	c.14C>A	c.(13-15)tCg>tAg	p.S5*	RREB1_ENST00000379933.3_Nonsense_Mutation_p.S5*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.S5*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.S5*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	5					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACGTCAAGTTCGCCCGCTGGC	0.498													False	0	False	6:7182158	0	A	7182158	C	A	7182158	4	1	143	1	0	0	0	0	0	1	0	0	13758	893	31	3	16	3	RREB1	6	7182158	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	556945	7182158	163932909	102	34152											
DCDC2	51473	broad.mit.edu	37	chr6	24205358	24205358	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacaaacacacagtgaaaatCaaaatccaattgtgacatcg	6	9	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:24205358C>A	ENST00000378450.3	-	1	173	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	DCDC2_ENST00000378454.3_Intron			Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	0	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CAGTGAAAATCAAAATCCAAT	0.378													False	0	True	6:24205358	0	A	24205358	C	A	24205358	3	1	143	1	0	0	0	0	1	0	0	0	4310	841	29	3		3	DCDC2	6	24205358	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	17023200	24205358	146909709	103	34153											
ZNF311	282890	broad.mit.edu	37	chr6	28963821	28963821	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgtgggtttttttatgtcGgcaaagagctgatctactgt	11	6	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:28963821G>T	ENST00000377179.3	-	7	1470	c.958C>A	c.(958-960)Cga>Aga	p.R320R	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TTTTTATGTCGGCAAAGAGCT	0.493													False	0	False	6:28963821	0	T	28963821	G	T	28963821	2	4	143	1	0	0	0	0	0	0	0	1	17917	1124	39	3		3	ZNF311	6	28963821	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4758463	28963821	142151246	104	34154											
DNAH8	1769	broad.mit.edu	37	chr6	38705701	38705701	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagcaactcagaaactgttCatcagctggaggaagtgctg	11	10	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:38705701C>A	ENST00000359357.3	+	5	672	c.418C>A	c.(418-420)Cat>Aat	p.H140N	DNAH8_ENST00000449981.2_Missense_Mutation_p.H357N|DNAH8_ENST00000441566.1_Missense_Mutation_p.H140N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAACTGTTCATCAGCTGGA	0.408													False	0	False	6:38705701	0	A	38705701	C	A	38705701	3	1	143	1	0	0	0	0	1	0	0	0	4637	826	29	3	428	3	DNAH8	6	38705701	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9741880	38705701	132409366	105	34155											
ABCC10	89845	broad.mit.edu	37	chr6	43415482	43415482	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggacgtggtgttggcgtacCggccagggctgccgaatgcc	17	11	0	0	rs139000750		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:43415482C>A	ENST00000244533.3	+	16	4041	c.3682C>A	c.(3682-3684)Cgg>Agg	p.R1228R	ABCC10_ENST00000372530.4_Silent_p.R1256R	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1256						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTTGGCGTACCGGCCAGGGCT	0.667													False	0	False	6:43415482	0	A	43415482	C	A	43415482	2	1	143	1	0	0	0	0	0	0	0	1	50	643	23	3		3	ABCC10	6	43415482	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4709781	43415482	127699585	106	34156											
DLK2	65989	broad.mit.edu	37	chr6	43418947	43418947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaaagcccaccaagcagCggcacgtgaagttgagagca	11	13	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:43418947C>T	ENST00000357338.3	-	6	1182	c.482G>A	c.(481-483)cGc>cAc	p.R161H	DLK2_ENST00000372488.3_Missense_Mutation_p.R161H|DLK2_ENST00000414245.1_Missense_Mutation_p.R155H|DLK2_ENST00000372485.1_Missense_Mutation_p.R155H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	161	EGF-like 4.					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACCAAGCAGCGGCACGTGAA	0.592													False	0	False	6:43418947	0	T	43418947	C	T	43418947	3	4	143	1	0	0	0	0	1	0	0	0	4595	768	27	1	673	1	DLK2	6	43418947	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3465	43418947	127696120	107	34157											
MEP1A	4224	broad.mit.edu	37	chr6	46797278	46797278	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgacagcacaggcaatgttCgcaagttggtgaaggtgcag	14	7	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:46797278C>A	ENST00000230588.4	+	10	1123	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	372	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGCAATGTTCGCAAGTTGGT	0.488													False	0	False	6:46797278	0	A	46797278	C	A	46797278	3	1	143	1	0	0	0	0	1	0	0	0	9542	884	31	3	1152	3	MEP1A	6	46797278	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3378331	46797278	124317789	108	34158											
COX7A2	1347	broad.mit.edu	37	chr6	75950955	75950955	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcgggaagcagtgcttatCgtcctctgcccaatctgacg	11	13	2	1	rs139079443		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:75950955C>A	ENST00000370081.2	-	3	451	c.141G>T	c.(139-141)acG>acT	p.T47T	COX7A2_ENST00000472311.2_Silent_p.T15T|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000509698.1_Silent_p.T15T|COX7A2_ENST00000230459.4_Silent_p.T15T|COX7A2_ENST00000370089.2_Silent_p.T47T			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	15						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	p.T15T(1)		kidney(2)|lung(1)	3						CAGTGCTTATCGTCCTCTGCC	0.358													False	0	False	6:75950955	0	A	75950955	C	A	75950955	2	1	143	1	0	0	0	0	0	0	0	1	3803	871	31	3		3	COX7A2	6	75950955	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	29153677	75950955	95164112	109	34159											
SENP6	26054	broad.mit.edu	37	chr6	76425185	76425185	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacaaaaagagaagaaatcCgaaacataattctgaagcta	7	6	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:76425185C>A	ENST00000370014.3	+	24	3833	c.3214C>A	c.(3214-3216)Cga>Aga	p.R1072R	SENP6_ENST00000447266.2_Silent_p.R1072R|SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.R1065R	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1072	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGAAGAAATCCGAAACATAAT	0.368													False	0	False	6:76425185	0	A	76425185	C	A	76425185	2	1	143	1	0	0	0	0	0	0	0	1	14131	644	23	3		3	SENP6	6	76425185	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	474230	76425185	94689882	110	34160											
TTK	7272	broad.mit.edu	37	chr6	80749500	80749500	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catttcagcagataattaatCagatttctaaattacatgcc	4	8	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:80749500C>A	ENST00000509894.1	+	19	3044	c.2215C>A	c.(2215-2217)Cag>Aag	p.Q739K	TTK_ENST00000230510.3_Missense_Mutation_p.Q739K|TTK_ENST00000369798.2_Missense_Mutation_p.Q740K			P33981	TTK_HUMAN	TTK protein kinase	740	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GATAATTAATCAGATTTCTAA	0.308													False	0	True	6:80749500	0	A	80749500	C	A	80749500	3	1	143	1	0	0	0	0	1	0	0	0	16804	827	29	3	2288	3	TTK	6	80749500	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4324315	80749500	90365567	111	34161											
PTPRK	5796	broad.mit.edu	37	chr6	128404925	128404925	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttcaagaagatcttattttCaaaggatgttccttgaagag	9	5	3	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:128404925C>A	ENST00000368227.3	-	9	1876	c.1510G>T	c.(1510-1512)Gaa>Taa	p.E504*	PTPRK_ENST00000532331.1_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.E504*|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368215.3_Nonsense_Mutation_p.E504*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	504	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTTATTTTCAAAGGATGTT	0.348													False	0	True	6:128404925	0	A	128404925	C	A	128404925	4	1	143	1	0	0	0	0	0	1	0	0	12884	835	29	3	2922	3	PTPRK	6	128404925	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	47655425	128404925	42710142	112	34162											
FUCA2	2519	broad.mit.edu	37	chr6	143823168	143823168	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggaccccatttgcctcagtCgctcctcaaaaactacagaa	6	14	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:143823168C>A	ENST00000002165.5	-	5	1110	c.1055G>T	c.(1054-1056)cGa>cTa	p.R352L	RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000367585.1_3'UTR|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000438118.2_3'UTR	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	352					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TTGCCTCAGTCGCTCCTCAAA	0.443													False	0	False	6:143823168	0	A	143823168	C	A	143823168	3	1	143	1	0	0	0	0	1	0	0	0	6137	884	31	3	360	3	FUCA2	6	143823168	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	15418243	143823168	27291899	113	34163											
PLEKHG1	57480	broad.mit.edu	37	chr6	151153189	151153189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgtttatgatggctcGgcagtacagtcagaagatta	13	6	1	3	rs113595784		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:151153189G>A	ENST00000367328.1	+	16	3254	c.2942G>A	c.(2941-2943)cGg>cAg	p.R981Q	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R981Q	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	981					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATGATGGCTCGGCAGTACAGT	0.507													False	0	False	6:151153189	0	A	151153189	G	A	151153189	3	1	143	1	0	0	0	0	1	0	0	0	12137	1116	39	1	2996	1	PLEKHG1	6	151153189	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7330021	151153189	19961878	114	34164											
FNDC1	84624	broad.mit.edu	37	chr6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-													agcagtcggtctcagccgagGacgacgaggaggaggacgcg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65													False	2	False	6:159655079	0	-	159655081	GAC	-	159655079	7	5	143	1	0	1	0	1	0	0	0	0	6008	1174	41	0	3577	0	FNDC1	6	159655079	In_Frame_Del	DEL	GAC	TCGA-YB-A89D-01A-12D-A36O-08	8501890	159655079	11459988	115	34165											
TCP1	6950	broad.mit.edu	37	chr6	160202137	160202137	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctctccttggtgatatctGattctctgcaaagtattttt	6	8	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:160202137G>A	ENST00000321394.7	-	8	1083	c.803C>T	c.(802-804)tCa>tTa	p.S268L	TCP1_ENST00000392168.2_Missense_Mutation_p.S113L|TCP1_ENST00000544255.1_Missense_Mutation_p.S44L|TCP1_ENST00000420894.2_Missense_Mutation_p.S268L	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	268					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GGTGATATCTGATTCTCTGCA	0.328													False	0	False	6:160202137	0	A	160202137	G	A	160202137	3	1	143	1	0	0	0	0	1	0	0	0	15791	1294	45	2	887	2	TCP1	6	160202137	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	547058	160202137	10912930	116	34166											
KLHL7	55975	broad.mit.edu	37	chr7	23183515	23183515	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgaaatacgatgaacctaatCgccagccatttatggttgat	8	8	0	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:23183515C>A	ENST00000322231.7	+	7	1088	c.598C>A	c.(598-600)Cgc>Agc	p.R200S	KLHL7_ENST00000339077.4_Missense_Mutation_p.R222S|KLHL7_ENST00000539124.1_Missense_Mutation_p.R146S|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000545443.1_Missense_Mutation_p.R200S|KLHL7_ENST00000409689.1_Missense_Mutation_p.R174S|KLHL7_ENST00000479288.1_3'UTR			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	222						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAACCTAATCGCCAGCCATT	0.378													False	0	True	7:23183515	0	A	23183515	C	A	23183515	3	1	143	1	0	0	0	0	1	0	0	0	8444	884	31	3	749	3	KLHL7	7	23183515	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		23183515	135955148	117	34167											
AVL9	23080	broad.mit.edu	37	chr7	32615681	32615681	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcacttgcagaaataaatcCaaagtaagcgcgtcctctga	8	10	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:32615681C>A	ENST00000318709.4	+	13	1906	c.1685C>A	c.(1684-1686)cCa>cAa	p.P562Q	AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Missense_Mutation_p.P562Q	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	562						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GAAATAAATCCAAAGTAAGCG	0.378													False	0	True	7:32615681	0	A	32615681	C	A	32615681	3	1	143	1	0	0	0	0	1	0	0	0	1232	594	21	3	1735	3	AVL9	7	32615681	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9432166	32615681	126522982	118	34168											
SBDS	51119	broad.mit.edu	37	chr7	66458225	66458225	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttttgtactcttgttGgttttcaccgaatagtggat	10	6	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:66458225G>T	ENST00000246868.2	-	3	621	c.438C>A	c.(436-438)acC>acA	p.T146T		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	146				T -> P (in Ref. 2; AAD34092).	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TACTCTTGTTGGTTTTCACCG	0.393			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome				False	0	False	7:66458225	0	T	66458225	G	T	66458225	2	4	143	1	0	0	0	0	0	0	0	1	13937	1335	47	3		3	SBDS	7	66458225	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	33842544	66458225	92680438	119	34169											
MAGI2	9863	broad.mit.edu	37	chr7	77755148	77755148	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgtccacagtgaaataatCaaaatcctttggggttgggg	11	7	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:77755148C>A	ENST00000354212.4	-	20	3683	c.3430G>T	c.(3430-3432)Gat>Tat	p.D1144Y	MAGI2_ENST00000522391.1_Missense_Mutation_p.D1144Y|MAGI2_ENST00000419488.1_Missense_Mutation_p.D1130Y	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1144						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGAAATAATCAAAATCCTTT	0.398													False	0	True	7:77755148	0	A	77755148	C	A	77755148	3	1	143	1	0	0	0	0	1	0	0	0	9258	826	29	3	949	3	MAGI2	7	77755148	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	11296923	77755148	81383515	120	34170											
C7orf63	79846	broad.mit.edu	37	chr7	89894677	89894677	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctgaagatactgctaattCaattgcacttctgggtaagt	9	7	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:89894677C>A	ENST00000389297.4	+	5	670	c.419C>A	c.(418-420)tCa>tAa	p.S140*	C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Nonsense_Mutation_p.S140*|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.S140*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	140							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ACTGCTAATTCAATTGCACTT	0.338													False	0	False	7:89894677	0	A	89894677	C	A	89894677	4	1	143	1	0	0	0	0	0	1	0	0	2428	838	29	3	437	3	C7orf63	7	89894677	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	12139529	89894677	69243986	121	34171											
SLC25A13	10165	broad.mit.edu	37	chr7	95813702	95813702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgatcgttggttctgcattCgagtttttacaagatcgata	9	6	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:95813702C>T	ENST00000416240.2	-	11	1257	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	SLC25A13_ENST00000265631.5_Missense_Mutation_p.R355Q|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R247Q	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	355					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GTTCTGCATTCGAGTTTTTAC	0.373													False	0	False	7:95813702	0	T	95813702	C	T	95813702	3	4	143	1	0	0	0	0	1	0	0	0	14555	884	31	1	995	1	SLC25A13	7	95813702	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5919025	95813702	63324961	122	34172											
SLC25A13	10165	broad.mit.edu	37	chr7	95818680	95818680	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccgttcaatgtctgctaAggtcatacgtctgtagggga	11	8	4	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:95818680A>C	ENST00000416240.2	-	9	1049	c.859T>G	c.(859-861)Tta>Gta	p.L287V	SLC25A13_ENST00000265631.5_Missense_Mutation_p.L287V|SLC25A13_ENST00000542654.1_Missense_Mutation_p.L179V	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	287					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ATGTCTGCTAAGGTCATACGT	0.393													False	0	False	7:95818680	0	C	95818680	A	C	95818680	3	2	143	1	0	0	0	0	1	0	0	0	14555	69	3	4	1211	4	SLC25A13	7	95818680	Missense_Mutation	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	4978	95818680	63319983	123	34173											
CFTR	1080	broad.mit.edu	37	chr7	117188841	117188843	+	In_Frame_Del	DEL	GTT	GTT	-													ttcaagatagaaagaggacaGttgttggcggttgctggatc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	GTT	GTT	-	-	GTT	GTT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:117188841_117188843delGTT	ENST00000003084.6	+	10	1488_1490	c.1356_1358delGTT	c.(1354-1359)cagttg>cag	p.L454del	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	454	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAAGAGGACAGTTGTTGGCGGTT	0.379									Cystic Fibrosis				False	2	False	7:117188841	0	-	117188843	GTT	-	117188841	7	5	143	1	0	1	0	1	0	0	0	0	3317	1020	36	0	1394	0	CFTR	7	117188841	In_Frame_Del	DEL	GTT	TCGA-YB-A89D-01A-12D-A36O-08	21370161	117188841	41949822	124	34174											
FLNC	2318	broad.mit.edu	37	chr7	128491395	128491395	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccagccaccttcactattgtCaccaaagatgctggagaagg	9	12	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:128491395C>G	ENST00000325888.8	+	34	5910	c.5649C>G	c.(5647-5649)gtC>gtG	p.V1883V	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.V1850V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1883					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCACTATTGTCACCAAAGATG	0.587													False	0	False	7:128491395	0	G	128491395	C	G	128491395	2	3	143	1	0	0	0	0	0	0	0	1	5975	813	29	5		5	FLNC	7	128491395	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	11302554	128491395	30647268	125	34175											
KEL	3792	broad.mit.edu	37	chr7	142650939	142650939	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accagttgtgacatgtttttCaaatattccacgtcatggac	7	9	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:142650939C>A	ENST00000355265.2	-	9	1503	c.1029G>T	c.(1027-1029)ttG>ttT	p.L343F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	343					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACATGTTTTTCAAATATTCCA	0.557													False	0	True	7:142650939	0	A	142650939	C	A	142650939	3	1	143	1	0	0	0	0	1	0	0	0	8192	825	29	3	1213	3	KEL	7	142650939	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	14159544	142650939	16487724	126	34176											
NOS3	4846	broad.mit.edu	37	chr7	150704202	150704202	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caccccaggttctgtgtgttCgggctcggctcccgggcata	13	14	1	0	rs148623908		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:150704202C>A	ENST00000297494.3	+	17	2307	c.1950C>A	c.(1948-1950)ttC>ttA	p.F650L	NOS3_ENST00000461406.1_Missense_Mutation_p.F444L	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	650	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TCTGTGTGTTCGGGCTCGGCT	0.677													False	0	True	7:150704202	0	A	150704202	C	A	150704202	3	1	143	1	0	0	0	0	1	0	0	0	10612	883	31	3	2294	3	NOS3	7	150704202	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	8053263	150704202	8434461	127	34177											
ASB10	136371	broad.mit.edu	37	chr7	150878170	150878170	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccccatagtccatggtgttGgcgctgacaccacaggacag	11	14	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:150878170G>T	ENST00000422024.1	-	3	1220	c.1095C>A	c.(1093-1095)gcC>gcA	p.A365A	ASB10_ENST00000275838.1_Silent_p.A320A|ASB10_ENST00000377867.3_Silent_p.A305A|ASB10_ENST00000434669.1_Silent_p.A365A|ASB10_ENST00000420175.2_Silent_p.A320A	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	320					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCATGGTGTTGGCGCTGACAC	0.682													False	0	False	7:150878170	0	T	150878170	G	T	150878170	2	4	143	1	0	0	0	0	0	0	0	1	1018	1335	47	3		3	ASB10	7	150878170	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	173968	150878170	8260493	128	34178											
PSD3	23362	broad.mit.edu	37	chr8	18393349	18393349	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgattggagaagtatcCgggttcagcgaaggactcga	15	7	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:18393349C>A	ENST00000440756.2	-	16	3156	c.3054G>T	c.(3052-3054)ccG>ccT	p.P1018P	PSD3_ENST00000428502.2_Silent_p.P345P|PSD3_ENST00000523619.1_Silent_p.P951P|PSD3_ENST00000286485.8_Silent_p.P482P|PSD3_ENST00000327040.8_Silent_p.P1016P			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	1017					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GAGAAGTATCCGGGTTCAGCG	0.483													False	0	True	8:18393349	0	A	18393349	C	A	18393349	2	1	143	1	0	0	0	0	0	0	0	1	12724	639	23	3		3	PSD3	8	18393349	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		18393349	127970673	129	34179											
CDCA2	157313	broad.mit.edu	37	chr8	25319666	25319666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgattcgtttcattgctcGgcagcaaaatataaagaatg	8	7	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:25319666G>T	ENST00000330560.3	+	4	806	c.329G>T	c.(328-330)cGg>cTg	p.R110L	CDCA2_ENST00000380665.3_Missense_Mutation_p.R95L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	110					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTCATTGCTCGGCAGCAAAAT	0.423													False	0	False	8:25319666	0	T	25319666	G	T	25319666	3	4	143	1	0	0	0	0	1	0	0	0	3109	1116	39	3	339	3	CDCA2	8	25319666	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	6926317	25319666	121044356	130	34180											
RP1	6101	broad.mit.edu	37	chr8	55539537	55539537	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcacagtcagctattaAtgatcataatactaaaagtc	5	7	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:55539537A>G	ENST00000220676.1	+	4	3243	c.3095A>G	c.(3094-3096)aAt>aGt	p.N1032S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1032					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGCTATTAATGATCATAAT	0.378													False	0	False	8:55539537	0	G	55539537	A	G	55539537	3	3	143	1	0	0	0	0	1	0	0	0	13611	101	4	4	3105	4	RP1	8	55539537	Missense_Mutation	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	30219871	55539537	90824485	131	34181											
VCPIP1	80124	broad.mit.edu	37	chr8	67577681	67577681	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggaaagctgtaatttttgtCagtcctcagctgtccatgag	11	8	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:67577681C>A	ENST00000310421.4	-	1	1771	c.1513G>T	c.(1513-1515)Gac>Tac	p.D505Y		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	505					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TAATTTTTGTCAGTCCTCAGC	0.433													False	0	False	8:67577681	0	A	67577681	C	A	67577681	3	1	143	1	0	0	0	0	1	0	0	0	17225	826	29	3	2167	3	VCPIP1	8	67577681	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	12038144	67577681	78786341	132	34182											
VCPIP1	80124	broad.mit.edu	37	chr8	67578760	67578760	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccggagaagcttggccCggcctgtctgtttgtccatt	12	12	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:67578760C>A	ENST00000310421.4	-	1	692	c.434G>T	c.(433-435)cGg>cTg	p.R145L		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	145					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAGCTTGGCCCGGCCTGTCTG	0.517													False	0	True	8:67578760	0	A	67578760	C	A	67578760	3	1	143	1	0	0	0	0	1	0	0	0	17225	652	23	3	3246	3	VCPIP1	8	67578760	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1079	67578760	78785262	133	34183											
JPH1	56704	broad.mit.edu	37	chr8	75149493	75149493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaaaaagaatggccaaccCgatattcaacagcatgacaa	6	10	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:75149493C>A	ENST00000342232.4	-	5	1991	c.1951G>T	c.(1951-1953)Ggg>Tgg	p.G651W	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	651					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.G651W(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ATGGCCAACCCGATATTCAAC	0.318													False	0	True	8:75149493	0	A	75149493	C	A	75149493	3	1	143	1	0	0	0	0	1	0	0	0	8010	652	23	3	38	3	JPH1	8	75149493	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	7570733	75149493	71214529	134	34184											
NBN	4683	broad.mit.edu	37	chr8	90965576	90965576	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacatcttcctcctgtttttGaactttcacatcaatttcta	3	11	4	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:90965576G>T	ENST00000265433.3	-	11	1895	c.1741C>A	c.(1741-1743)Caa>Aaa	p.Q581K	NBN_ENST00000409330.1_Missense_Mutation_p.Q499K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	581					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCCTGTTTTTGAACTTTCACA	0.348								Homologous recombination					False	0	True	8:90965576	0	T	90965576	G	T	90965576	3	4	143	1	0	0	0	0	1	0	0	0	10258	1299	45	3	547	3	NBN	8	90965576	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	15816083	90965576	55398446	135	34185											
RBM12B	389677	broad.mit.edu	37	chr8	94745981	94745981	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttctgggcgaccaaaattCacaaaagggcggtgacttct	10	11	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:94745981C>A	ENST00000399300.2	-	3	2871	c.2658G>T	c.(2656-2658)gtG>gtT	p.V886V	RBM12B_ENST00000517700.1_Silent_p.V766V|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	886							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GACCAAAATTCACAAAAGGGC	0.448													False	0	False	8:94745981	0	A	94745981	C	A	94745981	2	1	143	1	0	0	0	0	0	0	0	1	13193	813	29	3		3	RBM12B	8	94745981	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3780405	94745981	51618041	136	34186											
MTERFD1	51001	broad.mit.edu	37	chr8	97263135	97263135	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atccttttaaaagtcctaccTggtcttcagattttcaaggt	6	9	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:97263135T>A	ENST00000523821.1	-	4	795	c.677_splice	c.e4+1	p.R226_splice	MTERFD1_ENST00000522822.1_Splice_Site_p.R105_splice|MTERFD1_ENST00000287025.3_Splice_Site_p.R226_splice|MTERFD1_ENST00000524341.1_Splice_Site_p.R36_splice			Q96E29	MTER1_HUMAN	MTERF domain containing 1	226					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAGTCCTACCTGGTCTTCAGA	0.368													False	0	False	8:97263135	0	A	97263135	T	A	97263135	5	1	143	1	0	0	0	0	0	0	1	0	9986	1594	55	5	597	5	MTERFD1	8	97263135	Splice_Site	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	2517154	97263135	49100887	137	34187											
POP1	10940	broad.mit.edu	37	chr8	99142441	99142441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatcgagccatgacgaaccGgtgcctcctgcaggtgagct	12	13	0	2	rs148502433	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:99142441G>A	ENST00000401707.2	+	5	803	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	POP1_ENST00000349693.3_Missense_Mutation_p.R241Q	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	241					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATGACGAACCGGTGCCTCCTG	0.498													False	0	False	8:99142441	0	A	99142441	G	A	99142441	3	1	143	1	0	0	0	0	1	0	0	0	12320	1116	39	1	736	1	POP1	8	99142441	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	1879306	99142441	47221581	138	34188											
CSMD3	114788	broad.mit.edu	37	chr8	113256691	113256691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctatgttctgttccacctGctaagaagaagccaggctga	9	11	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:113256691G>A	ENST00000297405.5	-	65	10578	c.10334C>T	c.(10333-10335)gCa>gTa	p.A3445V	CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405V|CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3445	Sushi 28.					integral to membrane|plasma membrane		p.A3445V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTCCACCTGCTAAGAAGAA	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	False	8:113256691	0	A	113256691	G	A	113256691	3	1	143	1	0	0	0	0	1	0	0	0	3971	1319	46	2	817	2	CSMD3	8	113256691	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	14114250	113256691	33107331	139	34189											
COL14A1	7373	broad.mit.edu	37	chr8	121160132	121160132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggttgcttccaccttttttGgcaattgtttatttctgcac	7	9	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:121160132G>T	ENST00000297848.3	+	2	321	c.51G>T	c.(49-51)ttG>ttT	p.L17F	COL14A1_ENST00000247781.3_Missense_Mutation_p.L17F|COL14A1_ENST00000309791.4_Missense_Mutation_p.L17F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.L17F	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	17					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CACCTTTTTTGGCAATTGTTT	0.408													False	0	True	8:121160132	0	T	121160132	G	T	121160132	3	4	143	1	0	0	0	0	1	0	0	0	3694	1339	47	3	53	3	COL14A1	8	121160132	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7903441	121160132	25203890	140	34190											
RNF139	11236	broad.mit.edu	37	chr8	125498200	125498200	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attatgcttctttgcacattGacttctatggtgcctacaac	6	10	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:125498200G>T	ENST00000303545.3	+	2	682	c.310G>T	c.(310-312)Gac>Tac	p.D104Y		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	104					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTGCACATTGACTTCTATGG	0.433													False	0	False	8:125498200	0	T	125498200	G	T	125498200	3	4	143	1	0	0	0	0	1	0	0	0	13521	1290	45	3	316	3	RNF139	8	125498200	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4338068	125498200	20865822	141	34191											
DDX58	23586	broad.mit.edu	37	chr9	32485248	32485248	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatgatgtatttaaatttgtCgctaatccgtgattccactt	6	7	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:32485248C>A	ENST00000379882.1	-	9	1427	c.1270G>T	c.(1270-1272)Gac>Tac	p.D424Y	DDX58_ENST00000545044.1_Missense_Mutation_p.D266Y|DDX58_ENST00000379883.2_Missense_Mutation_p.D469Y|DDX58_ENST00000542096.1_Missense_Mutation_p.D398Y|DDX58_ENST00000379868.1_Missense_Mutation_p.D266Y			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	469	Helicase ATP-binding.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTAAATTTGTCGCTAATCCGT	0.363													False	0	False	9:32485248	0	A	32485248	C	A	32485248	3	1	143	1	0	0	0	0	1	0	0	0	4400	884	31	3	1408	3	DDX58	9	32485248	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		32485248	108728183	142	34192											
AQP7	364	broad.mit.edu	37	chr9	33395134	33395145	+	In_Frame_Del	DEL	AGTATTTCCTGG	AGTATTTCCTGG	-													ctcgcaccatcttcctctgcAgtatttcctggatctttgct					rs145775825	by1000genomes	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	AGTATTTCCTGG	AGTATTTCCTGG	-	-	AGTATTTCCTGG	AGTATTTCCTGG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:33395134_33395145delAGTATTTCCTGG	ENST00000539936.1	-	3	313_324	c.75_86delCCAGGAAATACT	c.(73-87)atccaggaaatactg>atg	p.25_29IQEIL>M	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000541274.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	25					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CTTCCTCTGCAGTATTTCCTGGATCTTTGCTA	0.571													False	1	True	9:33395134	0	-	33395145	AGTATTTCCTGG	-	33395134	7	5	143	1	0	1	0	1	0	0	0	0	833	188	7	0	966	0	AQP7	9	33395134	In_Frame_Del	DEL	AGTATTTCCTGG	TCGA-YB-A89D-01A-12D-A36O-08	909886	33395134	107818297	143	34193											
GRHPR	9380	broad.mit.edu	37	chr9	37425978	37425978	+	Frame_Shift_Del	DEL	G	G	-													tcgaccacttggctttggatGaaatcaagaagcggtaactg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:37425978delG	ENST00000607784.1	+	3	279	c.274delG	c.(274-276)gaafs	p.E92fs	GRHPR_ENST00000318158.6_Frame_Shift_Del_p.E92fs|GRHPR_ENST00000493368.1_3'UTR			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	92					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GGCTTTGGATGAAATCAAGAA	0.483													False	1	True	9:37425978	0	-	37425978	G	-	37425978	7	5	143	1	0	1	0	1	0	0	0	0	6813	1291	45	0	284	0	GRHPR	9	37425978	Frame_Shift_Del	DEL	G	TCGA-YB-A89D-01A-12D-A36O-08	4030844	37425978	103787453	144	34194											
AGTPBP1	23287	broad.mit.edu	37	chr9	88287535	88287535	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgattctgcaaattctgcttGaccaaattcagggttatatt	7	7	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:88287535G>T	ENST00000357081.3	-	7	642	c.498C>A	c.(496-498)gtC>gtA	p.V166V	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Silent_p.V218V|AGTPBP1_ENST00000376081.4_Silent_p.V166V|AGTPBP1_ENST00000376083.3_Silent_p.V166V|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000337006.4_Silent_p.V108V|AGTPBP1_ENST00000376080.1_Silent_p.V108V			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	166					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AATTCTGCTTGACCAAATTCA	0.348													False	0	False	9:88287535	0	T	88287535	G	T	88287535	2	4	143	1	0	0	0	0	0	0	0	1	400	1277	45	3		3	AGTPBP1	9	88287535	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	50861557	88287535	52925896	145	34195											
ZCCHC6	79670	broad.mit.edu	37	chr9	88953781	88953781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaaaggaaccagctttGgttctagttttccaagggca	9	10	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:88953781G>T	ENST00000375961.2	-	9	1506	c.1292C>A	c.(1291-1293)cCa>cAa	p.P431Q	ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375948.1_Missense_Mutation_p.P69Q|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.P431Q			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	431					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AACCAGCTTTGGTTCTAGTTT	0.428													False	0	True	9:88953781	0	T	88953781	G	T	88953781	3	4	143	1	0	0	0	0	1	0	0	0	17675	1348	47	3	3271	3	ZCCHC6	9	88953781	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	666246	88953781	52259650	146	34196											
ASPN	54829	broad.mit.edu	37	chr9	95232987	95232987	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctttaaaatcattttctttGatttccttaattttattgtt	2	6	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:95232987G>T	ENST00000375544.3	-	3	594	c.351C>A	c.(349-351)atC>atA	p.I117I	ASPN_ENST00000375543.1_Silent_p.I117I|ASPN_ENST00000395538.3_Silent_p.I117I|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	117					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						CATTTTCTTTGATTTCCTTAA	0.289													False	0	True	9:95232987	0	T	95232987	G	T	95232987	2	4	143	1	0	0	0	0	0	0	0	1	1061	1280	45	3		3	ASPN	9	95232987	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	6279206	95232987	45980444	147	34197											
ZNF462	58499	broad.mit.edu	37	chr9	109688806	109688806	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgcacccatacattaaattCagctttaggtacatcttgga	6	9	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:109688806C>A	ENST00000277225.5	+	3	2902	c.2613C>A	c.(2611-2613)ttC>ttA	p.F871L	ZNF462_ENST00000457913.1_Missense_Mutation_p.F871L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	871					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACATTAAATTCAGCTTTAGGT	0.443													False	0	False	9:109688806	0	A	109688806	C	A	109688806	3	1	143	1	0	0	0	0	1	0	0	0	18009	825	29	3	2619	3	ZNF462	9	109688806	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	14455819	109688806	31524625	148	34198											
RAB14	51552	broad.mit.edu	37	chr9	123949238	123949238	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatttaacttacagtatttGgattggtgagattccttgca	8	7	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:123949238G>T	ENST00000373840.4	-	5	581	c.344C>A	c.(343-345)cCa>cAa	p.P115Q		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	115					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TACAGTATTTGGATTGGTGAG	0.338													False	0	True	9:123949238	0	T	123949238	G	T	123949238	3	4	143	1	0	0	0	0	1	0	0	0	12979	1348	47	3	319	3	RAB14	9	123949238	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	14260432	123949238	17264193	149	34199											
PFKP	5214	broad.mit.edu	37	chr10	3149495	3149495	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccatcacctctgagaaaatCaaagaggtgagtgtgtgtag	11	8	3	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:3149495C>A	ENST00000381075.2	+	10	1064	c.840C>A	c.(838-840)atC>atA	p.I280I	PFKP_ENST00000381125.4_Silent_p.I288I	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	288					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGAGAAAATCAAAGAGGTGA	0.458													False	0	True	10:3149495	0	A	3149495	C	A	3149495	2	1	143	1	0	0	0	0	0	0	0	1	11835	816	29	3		3	PFKP	10	3149495	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		3149495	132385252	150	34200											
ITIH5	80760	broad.mit.edu	37	chr10	7621857	7621857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagacttggcctcgggCggcctctcgggtgttgttga	16	10	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:7621857C>T	ENST00000256861.6	-	9	1357	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.A427T|ITIH5_ENST00000446830.2_Missense_Mutation_p.A209T|ITIH5_ENST00000298441.6_Missense_Mutation_p.A213T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A427T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	427	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A427S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGGCCTCGGGCGGCCTCTCGG	0.617													False	0	True	10:7621857	0	T	7621857	C	T	7621857	3	4	143	1	0	0	0	0	1	0	0	0	7957	768	27	1	1696	1	ITIH5	10	7621857	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4472362	7621857	127912890	151	34201											
KIF5B	3799	broad.mit.edu	37	chr10	32323665	32323665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagccactgaatagtgttcCgcaggatcttatttttttct	7	9	2	1	rs141896420		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:32323665C>A	ENST00000302418.4	-	11	1521	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	355					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AATAGTGTTCCGCAGGATCTT	0.338			T	"RET, ALK"	NSCLC								False	0	False	10:32323665	0	A	32323665	C	A	32323665	3	1	143	1	0	0	0	0	1	0	0	0	8356	652	23	3	1887	3	KIF5B	10	32323665	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	24701808	32323665	103211082	152	34202											
ERCC6	2074	broad.mit.edu	37	chr10	50678238	50678238	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatggattacctgattttttGaaaagcttttccaaaacata	5	6	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:50678238G>T	ENST00000355832.5	-	18	3846	c.3768C>A	c.(3766-3768)ttC>ttA	p.F1256L	ERCC6_ENST00000542458.1_Missense_Mutation_p.F626L|ERCC6_ENST00000465653.1_5'UTR|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1256					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGATTTTTTGAAAAGCTTTT	0.418								Direct reversal of damage;Nucleotide excision repair (NER)					False	0	True	10:50678238	0	T	50678238	G	T	50678238	3	4	143	1	0	0	0	0	1	0	0	0	5249	1281	45	3	729	3	ERCC6	10	50678238	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	18354573	50678238	84856509	153	34203											
ANK3	288	broad.mit.edu	37	chr10	61828647	61828647	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actaattcccttaaaatattCaatggaatgtttacatactt	3	7	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:61828647C>A	ENST00000280772.1	-	37	12183	c.11992G>T	c.(11992-11994)Gaa>Taa	p.E3998*	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3998					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTAAAATATTCAATGGAATGT	0.453													False	0	False	10:61828647	0	A	61828647	C	A	61828647	4	1	143	1	0	0	0	0	0	1	0	0	622	835	29	3	1482	3	ANK3	10	61828647	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	11150409	61828647	73706100	154	34204											
KIF20B	9585	broad.mit.edu	37	chr10	91483759	91483759	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagacttgaaaaaaaaactGataaatgaaaaaaaggaaaa	7	2	0	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:91483759G>T	ENST00000416354.1	+	14	1833	c.1761G>T	c.(1759-1761)ctG>ctT	p.L587L	KIF20B_ENST00000371728.3_Silent_p.L587L|KIF20B_ENST00000260753.4_Silent_p.L587L|KIF20B_ENST00000394289.2_Silent_p.L587L|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	587					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAAAAACTGATAAATGAAA	0.289													False	0	False	10:91483759	0	T	91483759	G	T	91483759	2	4	143	1	0	0	0	0	0	0	0	1	8337	1277	45	3		3	KIF20B	10	91483759	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	29655112	91483759	44050988	155	34205											
IDE	3416	broad.mit.edu	37	chr10	94223733	94223733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agccctgtatgccattagctCgacgtggcccgctgaagacg	12	13	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:94223733C>A	ENST00000265986.6	-	21	2572	c.2516G>T	c.(2515-2517)cGa>cTa	p.R839L	IDE_ENST00000371581.5_Missense_Mutation_p.R284L|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	839					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCATTAGCTCGACGTGGCCC	0.453													False	0	False	10:94223733	0	A	94223733	C	A	94223733	3	1	143	1	0	0	0	0	1	0	0	0	7543	884	31	3	563	3	IDE	10	94223733	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2739974	94223733	41311014	156	34206											
ADD3	120	broad.mit.edu	37	chr10	111885676	111885676	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gttcctttaaacacaaacccGaatgaggtactagaaaagag	8	8	0	3	rs138443686		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:111885676G>T	ENST00000277900.8	+	11	1859	c.1494G>T	c.(1492-1494)ccG>ccT	p.P498P	ADD3_ENST00000356080.4_Silent_p.P498P|ADD3_ENST00000360162.3_Silent_p.P498P	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	498						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ACACAAACCCGAATGAGGTAC	0.358													False	0	True	10:111885676	0	T	111885676	G	T	111885676	2	4	143	1	0	0	0	0	0	0	0	1	306	1045	37	3		3	ADD3	10	111885676	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	17661943	111885676	23649071	157	34207											
SFXN4	119559	broad.mit.edu	37	chr10	120923683	120923683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggatctaataattctgtcCattgaagaaatcgtcgaata	7	6	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:120923683C>A	ENST00000355697.2	-	2	156	c.137G>T	c.(136-138)tGg>tTg	p.W46L	SFXN4_ENST00000330036.6_Missense_Mutation_p.W46L|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	46					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TAATTCTGTCCATTGAAGAAA	0.323													False	0	False	10:120923683	0	A	120923683	C	A	120923683	3	1	143	1	0	0	0	0	1	0	0	0	14278	595	21	3	928	3	SFXN4	10	120923683	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9038007	120923683	14611064	158	34208											
TACC2	10579	broad.mit.edu	37	chr10	123976332	123976332	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacgagaccaaattcagttCacccactgagggtaagcaac	8	11	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:123976332C>A	ENST00000369005.1	+	11	7875	c.7535C>A	c.(7534-7536)tCa>tAa	p.S2512*	TACC2_ENST00000369001.1_Nonsense_Mutation_p.S216*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.S602*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.S2516*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.S2512*|TACC2_ENST00000369000.1_Nonsense_Mutation_p.S212*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.S2516*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.S602*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000358010.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.S2467*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2512						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAATTCAGTTCACCCACTGAG	0.562													False	0	False	10:123976332	0	A	123976332	C	A	123976332	4	1	143	1	0	0	0	0	0	1	0	0	15584	838	29	3	7645	3	TACC2	10	123976332	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3052649	123976332	11558415	159	34209											
MKI67	4288	broad.mit.edu	37	chr10	129904176	129904176	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatttgcaggatacttctgtGattttgtcatcggtcattga	10	6	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:129904176G>T	ENST00000368654.3	-	13	6303	c.5928C>A	c.(5926-5928)atC>atA	p.I1976I	MKI67_ENST00000368653.3_Silent_p.I1616I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1976	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATACTTCTGTGATTTTGTCAT	0.473													False	0	False	10:129904176	0	T	129904176	G	T	129904176	2	4	143	1	0	0	0	0	0	0	0	1	9665	1280	45	3		3	MKI67	10	129904176	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	5927844	129904176	5630571	160	34210											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636809	18636809	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agattttttggctttgtgctCaacagcagatttctgagtcc	9	8	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:18636809C>A	ENST00000336349.5	-	3	1247	c.1012G>T	c.(1012-1014)Gag>Tag	p.E338*		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	338	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GCTTTGTGCTCAACAGCAGAT	0.512													False	0	False	11:18636809	0	A	18636809	C	A	18636809	4	1	143	1	0	0	0	0	0	1	0	0	15208	835	29	3	1061	3	SPTY2D1	11	18636809	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		18636809	116369707	161	34211											
ANO3	63982	broad.mit.edu	37	chr11	26556101	26556101	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaatatgaaaatggaatatCaaaagtgggtaagaacatta	8	3	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:26556101C>A	ENST00000256737.3	+	9	1820	c.968C>A	c.(967-969)tCa>tAa	p.S323*	ANO3_ENST00000525139.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.S177*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.S307*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	323						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AATGGAATATCAAAAGTGGGT	0.318													False	0	True	11:26556101	0	A	26556101	C	A	26556101	4	1	143	1	0	0	0	0	0	1	0	0	698	838	29	3	1002	3	ANO3	11	26556101	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	7919292	26556101	108450415	162	34212											
CKAP5	9793	broad.mit.edu	37	chr11	46831366	46831366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttgttgggaacgaagaaatCgagtaggtctaggagcactt	13	6	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:46831366C>A	ENST00000529230.1	-	6	735	c.689G>T	c.(688-690)cGa>cTa	p.R230L	CKAP5_ENST00000415402.1_Missense_Mutation_p.R230L|CKAP5_ENST00000354558.3_Missense_Mutation_p.R230L|CKAP5_ENST00000312055.5_Missense_Mutation_p.R230L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	230					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACGAAGAAATCGAGTAGGTCT	0.393													False	0	False	11:46831366	0	A	46831366	C	A	46831366	3	1	143	1	0	0	0	0	1	0	0	0	3468	884	31	3	5565	3	CKAP5	11	46831366	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	20275265	46831366	88175150	163	34213											
MS4A6A	64231	broad.mit.edu	37	chr11	59940598	59940599	+	Frame_Shift_Del	DEL	GT	GT	-													aaatcagcatcagagagagaGttccctgaaagtcaagaaat					rs7232	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:59940598_59940599delGT	ENST00000533023.1	-	4	324_325	c.257_258delAC	c.(256-258)aacfs	p.N86fs	MS4A6A_ENST00000528851.1_Frame_Shift_Del_p.T185fs|MS4A6A_ENST00000323961.3_Frame_Shift_Del_p.T185fs|MS4A6A_ENST00000529054.1_Frame_Shift_Del_p.T213fs|MS4A6A_ENST00000412309.2_Frame_Shift_Del_p.T213fs|MS4A6A_ENST00000420732.2_Frame_Shift_Del_p.N150fs|MS4A6A_ENST00000530839.1_Frame_Shift_Del_p.T185fs|MS4A6A_ENST00000426738.2_Frame_Shift_Del_p.T140fs			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	0						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAGAGAGAGTTCCCTGAAAG	0.49													False	1	True	11:59940598	0	-	59940599	GT	-	59940598	7	5	143	1	0	1	0	1	0	0	0	0	9931	1029	36	0	227	0	MS4A6A	11	59940598	Frame_Shift_Del	DEL	GT	TCGA-YB-A89D-01A-12D-A36O-08	13109232	59940598	75065918	164	34214											
MS4A5	64232	broad.mit.edu	37	chr11	60197150	60197150	+	Translation_Start_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attatcaccgacaccatcatGgattcaagcaccgcacacag	6	14	3	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:60197150G>T	ENST00000300190.2	+	1	89	c.3G>T	c.(1-3)atG>atT	p.M1I	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	1						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						ACACCATCATGGATTCAAGCA	0.448													False	0	False	11:60197150	0	T	60197150	G	T	60197150	1	4	143	1	0	0	0	0	0	0	0	0	9930	1348	47	3		3	MS4A5	11	60197150	Translation_Start_Site	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	256552	60197150	74809366	165	34215											
AHNAK	79026	broad.mit.edu	37	chr11	62292931	62292931	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggtcaccttccactttGggcagagaaatatccacatc	8	11	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:62292931G>T	ENST00000378024.4	-	5	9232	c.8958C>A	c.(8956-8958)ccC>ccA	p.P2986P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2986					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCCACTTTGGGCAGAGAAA	0.537													False	0	True	11:62292931	0	T	62292931	G	T	62292931	2	4	143	1	0	0	0	0	0	0	0	1	414	1335	47	3		3	AHNAK	11	62292931	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	2095781	62292931	72713585	166	34216											
CTSC	1075	broad.mit.edu	37	chr11	88029368	88029368	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggtctgagaattgttggtTagtatacggattctcgcttc	13	6	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:88029368T>C	ENST00000227266.5	-	6	936	c.822A>G	c.(820-822)ctA>ctG	p.L274L		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	274					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATTGTTGGTTAGTATACGGA	0.448													False	0	False	11:88029368	0	C	88029368	T	C	88029368	2	2	143	1	0	0	0	0	0	0	0	1	4056	1741	61	4		4	CTSC	11	88029368	Silent	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	25736437	88029368	46977148	167	34217											
PGR	5241	broad.mit.edu	37	chr11	100922228	100922228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaggatctccatcctagacCaaacaccattaagctcatcc	5	14	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:100922228C>A	ENST00000325455.5	-	5	3737	c.2284G>T	c.(2284-2286)Ggt>Tgt	p.G762C	PGR_ENST00000263463.5_Missense_Mutation_p.G660C|PGR_ENST00000534013.1_Missense_Mutation_p.G168C	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	762	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CATCCTAGACCAAACACCATT	0.348													False	0	True	11:100922228	0	A	100922228	C	A	100922228	3	1	143	1	0	0	0	0	1	0	0	0	11874	594	21	3	533	3	PGR	11	100922228	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	12892860	100922228	34084288	168	34218											
EXPH5	23086	broad.mit.edu	37	chr11	108381503	108381503	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttactaggtcatccaagttGgttttatttttgtttccttc	6	7	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:108381503G>T	ENST00000265843.4	-	6	4841	c.4731C>A	c.(4729-4731)acC>acA	p.T1577T	EXPH5_ENST00000443411.1_Silent_p.T1389T|EXPH5_ENST00000525344.1_Silent_p.T1570T|EXPH5_ENST00000428840.1_Silent_p.T1501T	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1577					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATCCAAGTTGGTTTTATTTT	0.418													False	0	False	11:108381503	0	T	108381503	G	T	108381503	2	4	143	1	0	0	0	0	0	0	0	1	5355	1335	47	3		3	EXPH5	11	108381503	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7459275	108381503	26625013	169	34219											
CADM1	23705	broad.mit.edu	37	chr11	115085351	115085351	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atacatacagcatataatccGagtgagctttccccactatg	6	11	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:115085351G>T	ENST00000542447.2	-	7	1099	c.971C>A	c.(970-972)tCg>tAg	p.S324*	CADM1_ENST00000537058.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Nonsense_Mutation_p.S324*|CADM1_ENST00000536727.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000452722.2_Nonsense_Mutation_p.S324*	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	324	Ig-like C2-type 2.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CATATAATCCGAGTGAGCTTT	0.423													False	0	False	11:115085351	0	T	115085351	G	T	115085351	4	4	143	1	0	0	0	0	0	1	0	0	2586	1059	37	3	373	3	CADM1	11	115085351	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	6703848	115085351	19921165	170	34220											
UBE4A	9354	broad.mit.edu	37	chr11	118250189	118250189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcagatggtaaaaatcaacCaaaatctgcatcggctgcag	8	9	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:118250189C>A	ENST00000252108.3	+	11	1731	c.1600C>A	c.(1600-1602)Caa>Aaa	p.Q534K	UBE4A_ENST00000545354.1_Missense_Mutation_p.Q6K|UBE4A_ENST00000431736.2_Missense_Mutation_p.Q541K	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	534					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAAAATCAACCAAAATCTGCA	0.463													False	0	True	11:118250189	0	A	118250189	C	A	118250189	3	1	143	1	0	0	0	0	1	0	0	0	16966	595	21	3	1659	3	UBE4A	11	118250189	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3164838	118250189	16756327	171	34221											
PUS3	83480	broad.mit.edu	37	chr11	125766014	125766014	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcggccatgagcactgaaatCaaatgcacgcttagtttttc	8	10	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:125766014C>A	ENST00000227474.3	-	2	263	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.D56Y|HYLS1_ENST00000425380.2_Intron	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	56						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GCACTGAAATCAAATGCACGC	0.433													False	0	True	11:125766014	0	A	125766014	C	A	125766014	3	1	143	1	0	0	0	0	1	0	0	0	12911	826	29	3	1291	3	PUS3	11	125766014	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	7515825	125766014	9240502	172	34222											
PRB3	5544	broad.mit.edu	37	chr12	11420551	11420551	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccttgggactggtttcctCcttgtgggggtggtccttct	14	10	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:11420551C>T	ENST00000381842.3	-	0	642				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.627													False	0	False	12:11420551	0	T	11420551	C	T	11420551	1	4	143	0	1	0	0	0	0	0	0	0	12520	855	30	2		2	PRB3	12	11420551	RNA	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		11420551	122431344	173	34223											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T													aggcactcttgcctacgccaCcagctccaactaccacaagt					rs121913529		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	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_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	T	25398284	C	T	25398284	3	4	143	1	0	0	0	0	1	0	0	0	8488	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	13977733	25398284	108453611	174	34224	390	2									
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G													ggcactcttgcctacgccacCagctccaactaccacaagtt					rs121913530		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0	G	25398285	C	G	25398285	3	3	143	1	0	0	0	0	1	0	0	0	8488	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1	25398285	108453610	175	34225	390	2									
OR6C75	390323	broad.mit.edu	37	chr12	55759411	55759411	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgtgcctccaatgtaattGatcattttatctgtgactct	6	9	4	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:55759411G>T	ENST00000343399.3	+	1	517	c.517G>T	c.(517-519)Gat>Tat	p.D173Y		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CAATGTAATTGATCATTTTAT	0.423													False	0	False	12:55759411	0	T	55759411	G	T	55759411	3	4	143	1	0	0	0	0	1	0	0	0	11267	1290	45	3	519	3	OR6C75	12	55759411	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	30361126	55759411	78092484	176	34226											
SHMT2	6472	broad.mit.edu	37	chr12	57626290	57626290	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgactgctcgacttttcCggccacggctcatcatagct	8	15	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:57626290C>A	ENST00000328923.3	+	6	1101	c.649C>A	c.(649-651)Cgg>Agg	p.R217R	SHMT2_ENST00000393827.4_Silent_p.R121R|SHMT2_ENST00000557487.1_Silent_p.R207R|SHMT2_ENST00000553474.1_Silent_p.R196R|SHMT2_ENST00000414700.3_Silent_p.R196R|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Silent_p.R196R	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	217						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TCGACTTTTCCGGCCACGGCT	0.592													False	0	False	12:57626290	0	A	57626290	C	A	57626290	2	1	143	1	0	0	0	0	0	0	0	1	14367	643	23	3		3	SHMT2	12	57626290	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1866879	57626290	76225605	177	34227											
RAP1B	5908	broad.mit.edu	37	chr12	69050210	69050210	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttagaatcttctgcaaaatCaaaaataaatgttaatgagg	6	5	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:69050210C>A	ENST00000250559.9	+	6	680	c.449C>A	c.(448-450)tCa>tAa	p.S150*	RAP1B_ENST00000378985.3_Nonsense_Mutation_p.S84*|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000543393.1_Nonsense_Mutation_p.S84*|RAP1B_ENST00000541216.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000539091.1_Nonsense_Mutation_p.S108*|RAP1B_ENST00000341355.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000540209.1_Nonsense_Mutation_p.S131*|RAP1B_ENST00000393436.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000450214.2_Nonsense_Mutation_p.S108*|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000537460.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000542145.1_Nonsense_Mutation_p.S103*	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	150					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TCTGCAAAATCAAAAATAAAT	0.338													False	0	True	12:69050210	0	A	69050210	C	A	69050210	4	1	143	1	0	0	0	0	0	1	0	0	13115	838	29	3	467	3	RAP1B	12	69050210	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	11423920	69050210	64801685	178	34228											
PPFIA2	8499	broad.mit.edu	37	chr12	81732982	81732982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccaagtcgagcttttTcttttttaccaaacaaacgt	6	11	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:81732982T>C	ENST00000550584.2	-	20	2820	c.2525A>G	c.(2524-2526)gAa>gGa	p.E842G	PPFIA2_ENST00000552948.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E824G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E743G|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E409G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E689G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E824G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E768G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E59G	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	768										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCGAGCTTTTTCTTTTTTACC	0.433													False	0	True	12:81732982	0	C	81732982	T	C	81732982	3	2	143	1	0	0	0	0	1	0	0	0	12379	1783	62	4	1296	4	PPFIA2	12	81732982	Missense_Mutation	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	12682772	81732982	52118913	179	34229											
RASSF9	9182	broad.mit.edu	37	chr12	86198780	86198780	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctctttctggatgccactCaaatgagagtgaattttcaa	7	8	4	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:86198780C>A	ENST00000361228.3	-	2	1376	c.1008G>T	c.(1006-1008)ttG>ttT	p.L336F		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	336					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATGCCACTCAAATGAGAGT	0.378													False	0	True	12:86198780	0	A	86198780	C	A	86198780	3	1	143	1	0	0	0	0	1	0	0	0	13172	825	29	3	303	3	RASSF9	12	86198780	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4465798	86198780	47653115	180	34230											
IKBIP	121457	broad.mit.edu	37	chr12	99020248	99020248	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatcttttagccgttcagtGagcaattttatttcctgctc	6	9	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:99020248G>T	ENST00000299157.4	-	3	967	c.594C>A	c.(592-594)ctC>ctA	p.L198L	IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	199					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GCCGTTCAGTGAGCAATTTTA	0.348													False	0	False	12:99020248	0	T	99020248	G	T	99020248	2	4	143	1	0	0	0	0	0	0	0	1	7659	1277	45	3		3	IKBIP	12	99020248	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	12821468	99020248	34831647	181	34231											
SLC17A8	246213	broad.mit.edu	37	chr12	100774595	100774595	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccactgctgcggcctccCcaagcgttacatcattgcta	8	16	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:100774595C>A	ENST00000323346.5	+	2	531	c.218C>A	c.(217-219)cCc>cAc	p.P73H	SLC17A8_ENST00000392989.3_Missense_Mutation_p.P73H	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	73					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGCGGCCTCCCCAAGCGTTAC	0.527													False	0	True	12:100774595	0	A	100774595	C	A	100774595	3	1	143	1	0	0	0	0	1	0	0	0	14504	623	22	3	224	3	SLC17A8	12	100774595	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1754347	100774595	33077300	182	34232											
SYCP3	50511	broad.mit.edu	37	chr12	102128736	102128736	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtgttttccaaacatgttCaattttctggttactagttt	6	6	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:102128736C>A	ENST00000392927.3	-	5	453	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	SYCP3_ENST00000266743.2_Nonsense_Mutation_p.E108*|SYCP3_ENST00000392924.1_Nonsense_Mutation_p.E108*	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	108	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CAAACATGTTCAATTTTCTGG	0.318													False	0	False	12:102128736	0	A	102128736	C	A	102128736	4	1	143	1	0	0	0	0	0	1	0	0	15516	835	29	3	408	3	SYCP3	12	102128736	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1354141	102128736	31723159	183	34233											
UNG	7374	broad.mit.edu	37	chr12	109547720	109547720	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtagacacttttcaaagacCaatgagctgctgcagaagtc	9	9	1	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:109547720C>A	ENST00000336865.2	+	6	1070	c.861C>A	c.(859-861)acC>acA	p.T287T	UNG_ENST00000242576.2_Silent_p.T296T	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	296					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TTTCAAAGACCAATGAGCTGC	0.478								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				False	0	False	12:109547720	0	A	109547720	C	A	109547720	2	1	143	1	0	0	0	0	0	0	0	1	17083	581	21	3		3	UNG	12	109547720	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	7418984	109547720	24304175	184	34234											
CCDC63	160762	broad.mit.edu	37	chr12	111336859	111336859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagaagataaactgtgaCgccaccaagatcctggtgca	9	10	1	4	rs115748204	by1000genomes	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:111336859C>T	ENST00000308208.5	+	10	1514	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	CCDC63_ENST00000552694.1_Silent_p.D345D|CCDC63_ENST00000545036.1_Silent_p.D384D	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	424										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAAACTGTGACGCCACCAAGA	0.498													False	0	False	12:111336859	0	T	111336859	C	T	111336859	2	4	143	1	0	0	0	0	0	0	0	1	2855	535	19	1		1	CCDC63	12	111336859	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1789139	111336859	22515036	185	34235											
ANKLE2	23141	broad.mit.edu	37	chr12	133304629	133304629	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccacatacctctgtctgtcCgagggtgagtagcacaggac	11	13	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:133304629C>A	ENST00000539605.1	-	11	9102	c.2418G>T	c.(2416-2418)tcG>tcT	p.S806S	ANKLE2_ENST00000542657.1_Silent_p.S223S|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000357997.5_Silent_p.S868S|ANKLE2_ENST00000542282.1_Silent_p.S223S			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	868						cytoplasm|integral to membrane|nuclear envelope		p.S868S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCTGTCTGTCCGAGGGTGAGT	0.572													False	0	True	12:133304629	0	A	133304629	C	A	133304629	2	1	143	1	0	0	0	0	0	0	0	1	633	639	23	3		3	ANKLE2	12	133304629	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	21967770	133304629	547266	186	34236											
IFT88	8100	broad.mit.edu	37	chr13	21230565	21230565	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agaaaatttccagaaaatgtCgaatgtaagtggcattacat	8	5	0	2	rs147013462		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:21230565C>A	ENST00000382778.4	+	23	3209	c.2091C>A	c.(2089-2091)gtC>gtA	p.V697V	IFT88_ENST00000319980.6_Silent_p.V697V|IFT88_ENST00000351808.5_Silent_p.V688V|IFT88_ENST00000537103.1_Silent_p.V669V			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	697					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CAGAAAATGTCGAATGTAAGT	0.259													False	0	False	13:21230565	0	A	21230565	C	A	21230565	2	1	143	1	0	0	0	0	0	0	0	1	7616	871	31	3		3	IFT88	13	21230565	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		21230565	93939313	187	34237											
ATP12A	479	broad.mit.edu	37	chr13	25264491	25264491	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcaagctctcgtcatcCgagattccgagaagaagacc	10	12	2	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:25264491C>A	ENST00000218548.6	+	6	895	c.562C>A	c.(562-564)Cga>Aga	p.R188R	ATP12A_ENST00000381946.3_Silent_p.R188R	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	188					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCTCGTCATCCGAGATTCCGA	0.577													False	0	False	13:25264491	0	A	25264491	C	A	25264491	2	1	143	1	0	0	0	0	0	0	0	1	1126	644	23	3		3	ATP12A	13	25264491	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4033926	25264491	89905387	188	34238											
FREM2	341640	broad.mit.edu	37	chr13	39451286	39451286	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggctgctgagtttagcttGaacacccaaatgtacctgct	10	10	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:39451286G>T	ENST00000280481.7	+	21	8793	c.8577G>T	c.(8575-8577)ttG>ttT	p.L2859F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2859					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTTTAGCTTGAACACCCAAA	0.438													False	0	False	13:39451286	0	T	39451286	G	T	39451286	3	4	143	1	0	0	0	0	1	0	0	0	6087	1281	45	3	8659	3	FREM2	13	39451286	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	14186795	39451286	75718592	189	34239											
KBTBD7	84078	broad.mit.edu	37	chr13	41766701	41766701	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatgagaagcaacttttggtCatgattgacaatctggtagt	11	5	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:41766701C>A	ENST00000379483.3	-	1	2001	c.1693G>T	c.(1693-1695)Gac>Tac	p.D565Y		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	565							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AACTTTTGGTCATGATTGACA	0.428													False	0	False	13:41766701	0	A	41766701	C	A	41766701	3	1	143	1	0	0	0	0	1	0	0	0	8048	826	29	3	365	3	KBTBD7	13	41766701	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2315415	41766701	73403177	190	34240											
EPSTI1	94240	broad.mit.edu	37	chr13	43491691	43491691	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagtaccttttgatgttgttCatccttcatcttttgcaatt	5	8	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:43491691C>A	ENST00000313640.7	-	9	824	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	EPSTI1_ENST00000313624.7_Nonsense_Mutation_p.E243*|EPSTI1_ENST00000398762.3_Nonsense_Mutation_p.E254*	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	254										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TGATGTTGTTCATCCTTCATC	0.328													False	0	False	13:43491691	0	A	43491691	C	A	43491691	4	1	143	1	0	0	0	0	0	1	0	0	5230	835	29	3	492	3	EPSTI1	13	43491691	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1724990	43491691	71678187	191	34241											
SUCLA2	8803	broad.mit.edu	37	chr13	48570988	48570988	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatttagtacctaattttttGgcaattgcataagcttcatc	5	7	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:48570988G>T	ENST00000378654.3	-	2	317	c.261C>A	c.(259-261)gcC>gcA	p.A87A	SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000543413.1_Silent_p.A29A|SUCLA2_ENST00000534875.1_Silent_p.A29A|SUCLA2_ENST00000497202.1_5'UTR	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	87	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CTAATTTTTTGGCAATTGCAT	0.368													False	0	True	13:48570988	0	T	48570988	G	T	48570988	2	4	143	1	0	0	0	0	0	0	0	1	15445	1335	47	3		3	SUCLA2	13	48570988	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	5079297	48570988	66598890	192	34242											
SLITRK5	26050	broad.mit.edu	37	chr13	88327922	88327922	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgttgtccggaaaccttttGaaccgtctctatcccaatga	7	11	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:88327922G>T	ENST00000325089.6	+	2	498	c.279G>T	c.(277-279)ttG>ttT	p.L93F	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	93						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAAACCTTTTGAACCGTCTCT	0.463													False	0	True	13:88327922	0	T	88327922	G	T	88327922	3	4	143	1	0	0	0	0	1	0	0	0	14826	1281	45	3	281	3	SLITRK5	13	88327922	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	39756934	88327922	26841956	193	34243											
FAM179B	23116	broad.mit.edu	37	chr14	45475240	45475240	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaagaaaaacctccagttCagcttacacctgccttggtg	7	13	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:45475240C>A	ENST00000361462.2	+	5	2857	c.2674C>A	c.(2674-2676)Cag>Aag	p.Q892K	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.Q892K|FAM179B_ENST00000361577.3_Missense_Mutation_p.Q892K			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	892							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACCTCCAGTTCAGCTTACACC	0.413													False	0	False	14:45475240	0	A	45475240	C	A	45475240	3	1	143	1	0	0	0	0	1	0	0	0	5542	827	29	3	2692	3	FAM179B	14	45475240	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		45475240	61874300	194	34244											
DDHD1	0	broad.mit.edu	37	chr14	53518604	53518604	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cattacattttccggaaaaaGaagttgtgggagattaaaga	10	4	0	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:53518604G>T	ENST00000323669.5	-	12	2478	c.2479C>A	c.(2479-2481)Ctt>Att	p.L827I	DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000555621.1_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	827	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCCGGAAAAAGAAGTTGTGGG	0.343													False	0	True	14:53518604	0	T	53518604	G	T	53518604	3	4	143	1	0	0	0	0	1	0	0	0	4351	942	33	3	231	3	DDHD1	14	53518604	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	8043364	53518604	53830936	195	34245											
ACTR10	55860	broad.mit.edu	37	chr14	58698943	58698943	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcactaagacatttcgaattCatactccacctgcaaaagct	5	12	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:58698943C>A	ENST00000254286.4	+	12	1110	c.1030C>A	c.(1030-1032)Cat>Aat	p.H344N	ACTR10_ENST00000554402.1_3'UTR	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	344						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						ATTTCGAATTCATACTCCACC	0.348													False	0	False	14:58698943	0	A	58698943	C	A	58698943	3	1	143	1	0	0	0	0	1	0	0	0	208	826	29	3	1076	3	ACTR10	14	58698943	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5180339	58698943	48650597	196	34246											
PPP2R5E	5529	broad.mit.edu	37	chr14	63881941	63881941	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaaaatcgtatgaaaaattCatatacaagctgcaacaaac	4	8	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:63881941C>A	ENST00000337537.3	-	5	1068	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	PPP2R5E_ENST00000555899.1_Nonsense_Mutation_p.E156*|PPP2R5E_ENST00000422769.2_Nonsense_Mutation_p.E80*|PPP2R5E_ENST00000553266.1_5'UTR	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	156					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		ATGAAAAATTCATATACAAGC	0.308													False	0	False	14:63881941	0	A	63881941	C	A	63881941	4	1	143	1	0	0	0	0	0	1	0	0	12470	835	29	3	977	3	PPP2R5E	14	63881941	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5182998	63881941	43467599	197	34247											
BTBD7	55727	broad.mit.edu	37	chr14	93761126	93761126	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcatctgcttggcatgatcGgcagacctattagatttccg	10	11	1	3	rs146080654		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:93761126G>T	ENST00000334746.5	-	3	547	c.240C>A	c.(238-240)gcC>gcA	p.A80A	BTBD7_ENST00000555525.1_Silent_p.A80A|BTBD7_ENST00000298896.3_Silent_p.A80A|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	80										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGGCATGATCGGCAGACCTAT	0.448													False	0	False	14:93761126	0	T	93761126	G	T	93761126	2	4	143	1	0	0	0	0	0	0	0	1	1553	1103	39	3		3	BTBD7	14	93761126	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	29879185	93761126	13588414	198	34248											
ATP10A	57194	broad.mit.edu	37	chr15	25928570	25928570	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaagattagataccactggtCaatcatggtagatgcagaga	11	6	2	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:25928570C>G	ENST00000356865.6	-	17	3466	c.3355G>C	c.(3355-3357)Gac>Cac	p.D1119H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1119					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TACCACTGGTCAATCATGGTA	0.502													False	0	False	15:25928570	0	G	25928570	C	G	25928570	3	3	143	1	0	0	0	0	1	0	0	0	1120	826	29	5	1164	5	ATP10A	15	25928570	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		25928570	76602822	199	34249											
HERC2	8924	broad.mit.edu	37	chr15	28370319	28370319	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagttgtccctcatcattgtCgccccatgtataaacctcac	5	15	3	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:28370319C>A	ENST00000261609.7	-	84	12931	c.12823G>T	c.(12823-12825)Gac>Tac	p.D4275Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4275					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATCATTGTCGCCCCATGTA	0.522													False	0	False	15:28370319	0	A	28370319	C	A	28370319	3	1	143	1	0	0	0	0	1	0	0	0	7105	884	31	3	1721	3	HERC2	15	28370319	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2441749	28370319	74161073	200	34250											
TRPM7	54822	broad.mit.edu	37	chr15	50929637	50929637	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actagcatgaattctttgctGattaatagttttttcaagtt	6	5	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:50929637G>T	ENST00000313478.7	-	7	1095	c.814C>A	c.(814-816)Cag>Aag	p.Q272K	TRPM7_ENST00000560955.1_Missense_Mutation_p.Q272K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	272					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATTCTTTGCTGATTAATAGTT	0.358													False	0	False	15:50929637	0	T	50929637	G	T	50929637	3	4	143	1	0	0	0	0	1	0	0	0	16674	1299	45	3	4915	3	TRPM7	15	50929637	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	22559318	50929637	51601755	201	34251											
PIGB	9488	broad.mit.edu	37	chr15	55642957	55642957	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctaagtttcctgtttttatCaaatttgttcctcgcccttt	4	10	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:55642957C>A	ENST00000164305.5	+	10	1475	c.1184C>A	c.(1183-1185)tCa>tAa	p.S395*	PIGB_ENST00000539642.1_Nonsense_Mutation_p.S200*	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	395					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTGTTTTTATCAAATTTGTTC	0.343													False	0	True	15:55642957	0	A	55642957	C	A	55642957	4	1	143	1	0	0	0	0	0	1	0	0	11954	838	29	3	1222	3	PIGB	15	55642957	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4713320	55642957	46888435	202	34252											
CCPG1	9236	broad.mit.edu	37	chr15	55652145	55652145	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcccaggactgcatttctttGaatttgtattttttctgaat	7	7	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:55652145G>T	ENST00000310958.6	-	8	2124	c.1826C>A	c.(1825-1827)tCa>tAa	p.S609*	CCPG1_ENST00000569205.1_Nonsense_Mutation_p.S609*|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.S609*|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	609					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GCATTTCTTTGAATTTGTATT	0.373													False	0	True	15:55652145	0	T	55652145	G	T	55652145	4	4	143	1	0	0	0	0	0	1	0	0	2961	1294	45	3	451	3	CCPG1	15	55652145	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	9188	55652145	46879247	203	34253											
VPS13C	54832	broad.mit.edu	37	chr15	62173113	62173113	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctcctagaaacccttgatCaatttttaaggccatttcct	5	11	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:62173113C>A	ENST00000261517.5	-	72	9890	c.9817G>T	c.(9817-9819)Gat>Tat	p.D3273Y	VPS13C_ENST00000249837.3_Missense_Mutation_p.D3230Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.D3230Y|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395896.4_Missense_Mutation_p.D3273Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3273					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACCCTTGATCAATTTTTAAG	0.318													False	0	False	15:62173113	0	A	62173113	C	A	62173113	3	1	143	1	0	0	0	0	1	0	0	0	17275	826	29	3	1528	3	VPS13C	15	62173113	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6520968	62173113	40358279	204	34254											
FEM1B	10116	broad.mit.edu	37	chr15	68582429	68582429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tactctctcatgctgattgcGaccgaagaagtcggattgaa	10	9	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:68582429G>T	ENST00000306917.4	+	2	1348	c.733G>T	c.(733-735)Gac>Tac	p.D245Y		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	245					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGCTGATTGCGACCGAAGAAG	0.438													False	0	False	15:68582429	0	T	68582429	G	T	68582429	3	4	143	1	0	0	0	0	1	0	0	0	5850	1058	37	3	739	3	FEM1B	15	68582429	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	6409316	68582429	33948963	205	34255											
HEXA	3073	broad.mit.edu	37	chr15	72643552	72643552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agatgccagtggaacacgttCaatttattgtacgccatgac	9	9	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:72643552C>A	ENST00000268097.5	-	6	1097	c.594G>T	c.(592-594)ttG>ttT	p.L198F	RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.L198F|HEXA_ENST00000429918.2_Missense_Mutation_p.L25F|HEXA_ENST00000566304.1_Missense_Mutation_p.L209F|HEXA_ENST00000457859.2_Missense_Mutation_p.L6F|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	198					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGAACACGTTCAATTTATTGT	0.473													False	0	False	15:72643552	0	A	72643552	C	A	72643552	3	1	143	1	0	0	0	0	1	0	0	0	7120	825	29	3	1031	3	HEXA	15	72643552	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4061123	72643552	29887840	206	34256											
CHRNB4	1143	broad.mit.edu	37	chr15	78927852	78927852	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggagctggtggctgggcGgatcaggttattgtaacggg	19	5	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:78927852G>T	ENST00000261751.3	-	2	244	c.133C>A	c.(133-135)Cgc>Agc	p.R45S	CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Missense_Mutation_p.R45S	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	45					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GTGGCTGGGCGGATCAGGTTA	0.572													False	0	False	15:78927852	0	T	78927852	G	T	78927852	3	4	143	1	0	0	0	0	1	0	0	0	3416	1116	39	3	1383	3	CHRNB4	15	78927852	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	6284300	78927852	23603540	207	34257											
TIGD7	91151	broad.mit.edu	37	chr16	3350485	3350485	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttcttattttttttaatgtCataaaatgttgacttactga	4	5	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:3350485C>A	ENST00000396862.1	-	2	1958	c.130G>T	c.(130-132)Gac>Tac	p.D44Y	TIGD7_ENST00000268674.2_Missense_Mutation_p.D44Y	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	44	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTTTTAATGTCATAAAATGTT	0.363													False	0	False	16:3350485	0	A	3350485	C	A	3350485	3	1	143	1	0	0	0	0	1	0	0	0	15983	826	29	3	1523	3	TIGD7	16	3350485	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		3350485	87004268	208	34258											
TAOK2	9344	broad.mit.edu	37	chr16	30000991	30000991	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtacaaggctctgcgagcAcacttgctggagaccacgcc	11	14	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:30000991A>G	ENST00000279394.3	+	17	2713	c.2310A>G	c.(2308-2310)gcA>gcG	p.A770A		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	648					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTCTGCGAGCACACTTGCTGG	0.562													False	0	False	16:30000991	0	G	30000991	A	G	30000991	2	3	143	1	0	0	0	0	0	0	0	1	15630	146	6	4		4	TAOK2	16	30000991	Silent	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	26650506	30000991	60353762	209	34259											
ORAI3	93129	broad.mit.edu	37	chr16	30960680	30960680	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcgagagccctgcaggcTcggccacgtaccgggagttc	16	13	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:30960680T>G	ENST00000318663.4	+	1	294	c.70T>G	c.(70-72)Tcg>Gcg	p.S24A	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Missense_Mutation_p.S24A|ORAI3_ENST00000562699.1_Missense_Mutation_p.S24A	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	24						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CCCTGCAGGCTCGGCCACGTA	0.736													False	0	False	16:30960680	0	G	30960680	T	G	30960680	3	3	143	1	0	0	0	0	1	0	0	0	11327	1551	54	4	72	4	ORAI3	16	30960680	Missense_Mutation	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	959689	30960680	59394073	210	34260											
ABCC12	94160	broad.mit.edu	37	chr16	48149365	48149365	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggacgactgtctttcccctGagcgtcttcttaatgcactc	8	13	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:48149365G>T	ENST00000416054.1	-	12	1882	c.1877C>A	c.(1876-1878)tCa>tAa	p.S626*	ABCC12_ENST00000448542.1_Silent_p.L650L|ABCC12_ENST00000311303.3_Silent_p.L650L			Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	0	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTTTCCCCTGAGCGTCTTCT	0.607													False	0	False	16:48149365	0	T	48149365	G	T	48149365	4	4	143	1	0	0	0	0	0	1	0	0	52	1277	45	3	2197	3	ABCC12	16	48149365	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	17188685	48149365	42205388	211	34261											
NAE1	8883	broad.mit.edu	37	chr16	66842917	66842917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatccttgttaattgtatcCaaaccatattcttcagctaa	3	10	3	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:66842917C>A	ENST00000379463.2	-	17	1386	c.1194G>T	c.(1192-1194)ttG>ttT	p.L398F	NAE1_ENST00000359087.4_Missense_Mutation_p.L407F|NAE1_ENST00000394074.2_Missense_Mutation_p.L315F|NAE1_ENST00000290810.3_Missense_Mutation_p.L404F	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	404					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TAATTGTATCCAAACCATATT	0.308													False	0	True	16:66842917	0	A	66842917	C	A	66842917	3	1	143	1	0	0	0	0	1	0	0	0	10206	593	21	3	412	3	NAE1	16	66842917	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	18693552	66842917	23511836	212	34262											
NFATC3	4775	broad.mit.edu	37	chr16	68208395	68208395	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttcttccagaatccaaaatCatttttcttgaaaaaggaca	4	8	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:68208395C>A	ENST00000349223.5	+	6	2117	c.1893C>A	c.(1891-1893)atC>atA	p.I631I	NFATC3_ENST00000329524.4_Silent_p.I631I|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.I631I|NFATC3_ENST00000575270.1_Silent_p.I631I	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	631					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AATCCAAAATCATTTTTCTTG	0.318													False	0	False	16:68208395	0	A	68208395	C	A	68208395	2	1	143	1	0	0	0	0	0	0	0	1	10432	816	29	3		3	NFATC3	16	68208395	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1365478	68208395	22146358	213	34263											
PMFBP1	83449	broad.mit.edu	37	chr16	72174339	72174339	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tactgcaggccagcttatttCgaagttcttgaatgagatca	9	8	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:72174339C>A	ENST00000537465.1	-	6	937	c.779G>T	c.(778-780)cGa>cTa	p.R260L	PMFBP1_ENST00000355636.6_Missense_Mutation_p.R115L|PMFBP1_ENST00000237353.10_Missense_Mutation_p.R260L			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	260										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CAGCTTATTTCGAAGTTCTTG	0.463													False	0	True	16:72174339	0	A	72174339	C	A	72174339	3	1	143	1	0	0	0	0	1	0	0	0	12203	884	31	3	2368	3	PMFBP1	16	72174339	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3965944	72174339	18180414	214	34264											
PLCG2	5336	broad.mit.edu	37	chr16	81973662	81973662	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccccattaaagcagtcaaatCaggtaagaggcattttaatt	7	8	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:81973662C>A	ENST00000359376.3	+	30	3693	c.3479C>A	c.(3478-3480)tCa>tAa	p.S1160*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1160					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCAGTCAAATCAGGTAAGAGG	0.408													False	0	False	16:81973662	0	A	81973662	C	A	81973662	4	1	143	1	0	0	0	0	0	1	0	0	12105	838	29	3	3593	3	PLCG2	16	81973662	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9799323	81973662	8381091	215	34265											
DPH1	1801	broad.mit.edu	37	chr17	1940178	1940179	+	Frame_Shift_Ins	INS	-	-	CAAGC													cgtgtgagtgtcccacagtgINScaagcccctgtcccctggag							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:1940178_1940179insCAAGC	ENST00000263083.6	+	6	668_669	c.623_624insCAAGC	c.(622-627)tgcaagfs	p.-210fs	DPH1_ENST00000576891.2_3'UTR|DPH1_ENST00000570477.1_Frame_Shift_Ins_p.-130fs	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1						peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GTCCCACAGTGCAAGCCCCTGT	0.599													False	1	False	17:1940178	0	CAAGC	1940179	-	CAAGC	1940178	7	5	143	1	0	1	1	0	0	0	0	0	4749	1319	46	0	645	0	DPH1	17	1940178	Frame_Shift_Ins	INS	-	TCGA-YB-A89D-01A-12D-A36O-08		1940178	79255032	216	34266											
DPH1	1801	broad.mit.edu	37	chr17	1943116	1943116	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accccaatgtccccgcttacCggtatgggctgggccgggct	13	15	0	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:1943116C>A	ENST00000263083.6	+	7	808	c.764_splice	c.e7+1	p.R255_splice	DPH1_ENST00000570477.1_Splice_Site_p.R175_splice	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	255					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCCGCTTACCGGTATGGGCT	0.577													False	0	False	17:1943116	0	A	1943116	C	A	1943116	5	1	143	1	0	0	0	0	0	0	1	0	4749	666	23	3	789	3	DPH1	17	1943116	Splice_Site	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2938	1943116	79252094	217	34267											
POLR2A	5430	broad.mit.edu	37	chr17	7405902	7405902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtacgacgcgactgtgCggaactccatcaaccaggtg	12	11	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:7405902C>T	ENST00000322644.6	+	16	3037	c.2638C>T	c.(2638-2640)Cgg>Tgg	p.R880W		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	880					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CGCGACTGTGCGGAACTCCAT	0.567													False	0	False	17:7405902	0	T	7405902	C	T	7405902	3	4	143	1	0	0	0	0	1	0	0	0	12283	759	27	1	2700	1	POLR2A	17	7405902	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5462786	7405902	73789308	218	34268											
MYH4	4622	broad.mit.edu	37	chr17	10357158	10357158	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttggattttggttttaatCaactgatcacatctttcctc	6	8	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:10357158C>A	ENST00000255381.2	-	23	2846	c.2736G>T	c.(2734-2736)ttG>ttT	p.L912F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	912					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGTTTTAATCAACTGATCAC	0.408													False	0	False	17:10357158	0	A	10357158	C	A	10357158	3	1	143	1	0	0	0	0	1	0	0	0	10104	825	29	3	3155	3	MYH4	17	10357158	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2951256	10357158	70838052	219	34269											
ZNF287	57336	broad.mit.edu	37	chr17	16456304	16456304	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatgggtactttggtgtttCaggagggatgggtatttcct	15	5	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:16456304C>A	ENST00000395824.1	-	6	1769	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	ZNF287_ENST00000395825.3_Silent_p.L384L			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	377					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTGGTGTTTCAGGAGGGATG	0.393													False	0	True	17:16456304	0	A	16456304	C	A	16456304	2	1	143	1	0	0	0	0	0	0	0	1	17908	813	29	3		3	ZNF287	17	16456304	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6099146	16456304	64738906	220	34270											
SMCR7	0	broad.mit.edu	37	chr17	18167206	18167206	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggagctgcaggcctactttCggagcaagttcccggaactg	13	11	0	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:18167206C>A	ENST00000395704.4	+	4	567	c.419C>A	c.(418-420)tCg>tAg	p.S140*	SMCR7_ENST00000577216.1_3'UTR|SMCR7_ENST00000395706.2_Silent_p.R176R|SMCR7_ENST00000323019.4_Silent_p.R165R			Q96C03	SMCR7_HUMAN		21						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GGCCTACTTTCGGAGCAAGTT	0.672													False	0	True	17:18167206	0	A	18167206	C	A	18167206	4	1	143	1	0	0	0	0	0	1	0	0	14870	893	31	3	540	3	SMCR7	17	18167206	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1710902	18167206	63028004	221	34271											
EVI2A	2123	broad.mit.edu	37	chr17	29645652	29645652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgttgttgttgttttccGcacagacatcctttttgaaa	7	9	0	2	rs139943451		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:29645652G>A	ENST00000247270.3	-	3	785	c.449C>T	c.(448-450)gCg>gTg	p.A150V	EVI2A_ENST00000462804.2_Missense_Mutation_p.A127V|NF1_ENST00000581113.2_Intron|CTD-2370N5.3_ENST00000578584.1_Silent_p.C66C|EVI2A_ENST00000461237.1_Missense_Mutation_p.A127V|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	127						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		GTTGTTTTCCGCACAGACATC	0.358													False	0	False	17:29645652	0	A	29645652	G	A	29645652	3	1	143	1	0	0	0	0	1	0	0	0	5319	1087	38	1	334	1	EVI2A	17	29645652	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	11478446	29645652	51549558	222	34272											
SYNRG	11276	broad.mit.edu	37	chr17	35902213	35902213	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaactctccaaagtcatcCgaacattcgttcggggtttc	8	11	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:35902213C>A	ENST00000339208.6	-	15	3203	c.3063G>T	c.(3061-3063)tcG>tcT	p.S1021S	SYNRG_ENST00000585472.1_Silent_p.S942S|SYNRG_ENST00000502449.2_Silent_p.S898S|SYNRG_ENST00000394378.2_Silent_p.S943S|SYNRG_ENST00000345615.4_Silent_p.S943S|SYNRG_ENST00000346661.4_Silent_p.S1021S|SYNRG_ENST00000591288.1_Silent_p.S815S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1021					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAGTCATCCGAACATTCGT	0.483													False	0	False	17:35902213	0	A	35902213	C	A	35902213	2	1	143	1	0	0	0	0	0	0	0	1	15542	639	23	3		3	SYNRG	17	35902213	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6256561	35902213	45292997	223	34273											
HAP1	9001	broad.mit.edu	37	chr17	39880981	39880981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgacgatctgcagcttgtcCggctggcggcagggagggcc	17	12	1	0	rs147264849	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:39880981C>A	ENST00000393939.2	-	10	1766	c.1757G>T	c.(1756-1758)cGg>cTg	p.R586L	HAP1_ENST00000310778.5_Missense_Mutation_p.R663L|HAP1_ENST00000341193.5_Missense_Mutation_p.R594L|HAP1_ENST00000347901.4_Missense_Mutation_p.R611L|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	663	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCAGCTTGTCCGGCTGGCGGC	0.617													False	0	False	17:39880981	0	A	39880981	C	A	39880981	3	1	143	1	0	0	0	0	1	0	0	0	7000	652	23	3	31	3	HAP1	17	39880981	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3978768	39880981	41314229	224	34274											
CNTNAP1	8506	broad.mit.edu	37	chr17	40843855	40843855	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaccatttccttccacacCggggctgcactacgcttccc	6	18	0	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:40843855C>A	ENST00000264638.4	+	16	2593	c.2376C>A	c.(2374-2376)acC>acA	p.T792T	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	792	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCTTCCACACCGGGGCTGCAC	0.552													False	0	True	17:40843855	0	A	40843855	C	A	40843855	2	1	143	1	0	0	0	0	0	0	0	1	3669	639	23	3		3	CNTNAP1	17	40843855	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	962874	40843855	40351355	225	34275											
TRIM25	7706	broad.mit.edu	37	chr17	54972919	54972919	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaaatccactaactgttcCggggctccaaacgtgggaag	10	10	0	0	rs145816750	by1000genomes	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:54972919C>A	ENST00000316881.4	-	7	1276	c.1227G>T	c.(1225-1227)ccG>ccT	p.P409P	TRIM25_ENST00000537230.1_Silent_p.P409P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	409	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CTAACTGTTCCGGGGCTCCAA	0.517													False	0	True	17:54972919	0	A	54972919	C	A	54972919	2	1	143	1	0	0	0	0	0	0	0	1	16582	639	23	3		3	TRIM25	17	54972919	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	14129064	54972919	26222291	226	34276											
NACA2	342538	broad.mit.edu	37	chr17	59668349	59668349	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgactctgttttgctttacCgactggttcttcatcaattt	6	11	4	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:59668349C>A	ENST00000521764.1	-	1	214	c.193G>T	c.(193-195)Ggt>Tgt	p.G65C		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	65					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TTTGCTTTACCGACTGGTTCT	0.483													False	0	False	17:59668349	0	A	59668349	C	A	59668349	3	1	143	1	0	0	0	0	1	0	0	0	10201	652	23	3	458	3	NACA2	17	59668349	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4695430	59668349	21526861	227	34277											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856801	62856801	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccggtttttgcctacagtttGaatctttgccaggctgtttc	9	10	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:62856801G>T	ENST00000584306.1	-	11	3993	c.3463C>A	c.(3463-3465)Caa>Aaa	p.Q1155K	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.Q1155K|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.Q132K|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.Q273K|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.Q193K	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1155						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCTACAGTTTGAATCTTTGCC	0.453													False	0	True	17:62856801	0	T	62856801	G	T	62856801	3	4	143	1	0	0	0	0	1	0	0	0	9055	1299	45	3	1457	3	LRRC37A3	17	62856801	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3188452	62856801	18338409	228	34278											
SKA1	220134	broad.mit.edu	37	chr18	47918506	47918506	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagctgacataaaggagttCacaactttgaaagctgacaa	9	7	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:47918506C>A	ENST00000285116.3	+	7	868	c.657C>A	c.(655-657)ttC>ttA	p.F219L	SKA1_ENST00000398452.2_Missense_Mutation_p.F219L|SKA1_ENST00000417656.2_Missense_Mutation_p.F173L|SKA1_ENST00000488454.1_Missense_Mutation_p.F68L	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	219					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TAAAGGAGTTCACAACTTTGA	0.378													False	0	False	18:47918506	0	A	47918506	C	A	47918506	3	1	143	1	0	0	0	0	1	0	0	0	14433	825	29	3	679	3	SKA1	18	47918506	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		47918506	30158742	229	34279											
SMAD4	4089	broad.mit.edu	37	chr18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggacccttctggaggagatCgcttttgtttgggtcaactc	12	9	2	1	rs80338963		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2.		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413													False	0	False	18:48591918	0	T	48591918	C	T	48591918	3	4	143	1	0	0	0	0	1	0	0	0	14840	884	31	1	1111	1	SMAD4	18	48591918	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	673412	48591918	29485330	230	34280											
ABCA7	10347	broad.mit.edu	37	chr19	1045184	1045184	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacgtgcgcatcaaaatcCgcatggacattgacgtggtc	11	12	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:1045184C>A	ENST00000263094.6	+	12	1630	c.1399C>A	c.(1399-1401)Cgc>Agc	p.R467S	ABCA7_ENST00000433129.1_Missense_Mutation_p.R467S|ABCA7_ENST00000435683.2_Missense_Mutation_p.R329S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	467					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCAAAATCCGCATGGACAT	0.642													False	0	False	19:1045184	0	A	1045184	C	A	1045184	3	1	143	1	0	0	0	0	1	0	0	0	37	652	23	3	1441	3	ABCA7	19	1045184	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		1045184	58083799	231	34281											
MUM1	84939	broad.mit.edu	37	chr19	1357015	1357015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttaaatgtaggttttggCccgaaccgcgacttcaacaa	9	9	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:1357015C>T	ENST00000344663.3	+	3	169	c.68C>T	c.(67-69)gCc>gTc	p.A23V	MUM1_ENST00000591806.1_Missense_Mutation_p.A23V|MUM1_ENST00000311401.5_5'UTR|MUM1_ENST00000415183.3_Missense_Mutation_p.A23V			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	22					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGGTTTTGGCCCGAACCGCG	0.368													False	0	True	19:1357015	0	T	1357015	C	T	1357015	3	4	143	1	0	0	0	0	1	0	0	0	10052	739	26	2	74	2	MUM1	19	1357015	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	311831	1357015	57771968	232	34282											
TRIP10	9322	broad.mit.edu	37	chr19	6750327	6750327	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggctggcagaagctgaaagtCgagtccttagcaaccgggga	15	9	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:6750327C>A	ENST00000600428.1	+	12	1574	c.928C>A	c.(928-930)Cga>Aga	p.R310R	TRIP10_ENST00000313244.9_Silent_p.R474R|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Silent_p.R418R|TRIP10_ENST00000313285.8_Silent_p.R418R			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	474	Interaction with CDC42.|Interaction with PDE6G (By similarity).			L -> P (in Ref. 2; AAK77492).	actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	p.R418G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGCTGAAAGTCGAGTCCTTAG	0.667													False	0	False	19:6750327	0	A	6750327	C	A	6750327	2	1	143	1	0	0	0	0	0	0	0	1	16637	876	31	3		3	TRIP10	19	6750327	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5393312	6750327	52378656	233	34283											
ZNF557	79230	broad.mit.edu	37	chr19	7082034	7082034	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcctaagctgcatgtttttCgaaaagaacaatctagaaat	6	8	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:7082034C>A	ENST00000414706.1	+	7	870	c.397C>A	c.(397-399)Cga>Aga	p.R133R	ZNF557_ENST00000252840.6_Silent_p.R133R|ZNF557_ENST00000439035.2_Silent_p.R126R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCATGTTTTTCGAAAAGAACA	0.348													False	0	True	19:7082034	0	A	7082034	C	A	7082034	2	1	143	1	0	0	0	0	0	0	0	1	18071	876	31	3		3	ZNF557	19	7082034	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	331707	7082034	52046949	234	34284											
OR7G3	390883	broad.mit.edu	37	chr19	9237378	9237378	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgagcctgtgcctggatgttCaccagcatcttgggcatcgt	12	11	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:9237378C>A	ENST00000305444.2	-	1	248	c.249G>T	c.(247-249)gtG>gtT	p.V83V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCTGGATGTTCACCAGCATCT	0.502													False	0	False	19:9237378	0	A	9237378	C	A	9237378	2	1	143	1	0	0	0	0	0	0	0	1	11292	813	29	3		3	OR7G3	19	9237378	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2155344	9237378	49891605	235	34285											
ZNF441	126068	broad.mit.edu	37	chr19	11892184	11892184	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaaaagctttgattctccCagttcatttcgaagacatga	9	8	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:11892184C>A	ENST00000357901.4	+	4	1647	c.1545C>A	c.(1543-1545)ccC>ccA	p.P515P	ZNF441_ENST00000454339.2_Silent_p.P448P	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATTCTCCCAGTTCATTTC	0.403													False	0	True	19:11892184	0	A	11892184	C	A	11892184	2	1	143	1	0	0	0	0	0	0	0	1	17997	581	21	3		3	ZNF441	19	11892184	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2654806	11892184	47236799	236	34286											
ZNF599	148103	broad.mit.edu	37	chr19	35251059	35251059	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcatgaatctgttgatgcCgaacaagggcccacttcttg	10	11	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:35251059C>A	ENST00000329285.7	-	4	1020	c.647G>T	c.(646-648)cGg>cTg	p.R216L		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTGTTGATGCCGAACAAGGGC	0.478													False	0	False	19:35251059	0	A	35251059	C	A	35251059	3	1	143	1	0	0	0	0	1	0	0	0	18112	652	23	3	1123	3	ZNF599	19	35251059	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	23358875	35251059	23877924	237	34287											
ZFP82	284406	broad.mit.edu	37	chr19	36883858	36883858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtagagtaagtttttggcGcaatctaaaggccttgccac	10	8	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:36883858G>A	ENST00000392161.3	-	5	1626	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C	ZFP82_ENST00000392171.1_Missense_Mutation_p.R462C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTTTTGGCGCAATCTAAAG	0.398													False	0	False	19:36883858	0	A	36883858	G	A	36883858	3	1	143	1	0	0	0	0	1	0	0	0	17736	1087	38	1	218	1	ZFP82	19	36883858	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	1632799	36883858	22245125	238	34288											
ARHGAP35	2909	broad.mit.edu	37	chr19	47424922	47424922	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccatcttacagcctgtttcGagaagacacatcactgcctt	7	13	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:47424922G>T	ENST00000404338.3	+	1	2990	c.2990G>T	c.(2989-2991)cGa>cTa	p.R997L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	997					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.R997Q(1)									AGCCTGTTTCGAGAAGACACA	0.478													False	0	False	19:47424922	0	T	47424922	G	T	47424922	3	4	143	1	0	0	0	0	1	0	0	0	6842	1058	37	3	2992	3	ARHGAP35	19	47424922	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	10541064	47424922	11704061	239	34289											
FPR3	2359	broad.mit.edu	37	chr19	52327944	52327944	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acttccaagaaagactgattCgctctttgcccactagtttg	7	11	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:52327944C>A	ENST00000339223.4	+	2	1122	c.943C>A	c.(943-945)Cgc>Agc	p.R315S	FPR3_ENST00000595991.1_Missense_Mutation_p.R315S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	315					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.R315C(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						AAGACTGATTCGCTCTTTGCC	0.507													False	0	False	19:52327944	0	A	52327944	C	A	52327944	3	1	143	1	0	0	0	0	1	0	0	0	6082	884	31	3	945	3	FPR3	19	52327944	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4903022	52327944	6801039	240	34290											
ZNF616	90317	broad.mit.edu	37	chr19	52618196	52618196	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatttataaggttttttgcCagaatgaattctttggtgtt	8	4	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:52618196C>A	ENST00000600228.1	-	4	2482	c.2221G>T	c.(2221-2223)Ggc>Tgc	p.G741C	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGTTTTTTGCCAGAATGAATT	0.403													False	0	False	19:52618196	0	A	52618196	C	A	52618196	3	1	143	1	0	0	0	0	1	0	0	0	18124	594	21	3	128	3	ZNF616	19	52618196	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	290252	52618196	6510787	241	34291											
ZNF665	79788	broad.mit.edu	37	chr19	53669363	53669363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcagcccttctatcaCgttgagctcttctaccaggg	8	14	4	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:53669363C>T	ENST00000600412.1	-	2	300	c.185G>A	c.(184-186)cGt>cAt	p.R62H	ZNF665_ENST00000396424.3_Missense_Mutation_p.R127H			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CCTTCTATCACGTTGAGCTCT	0.393													False	0	False	19:53669363	0	T	53669363	C	T	53669363	3	4	143	1	0	0	0	0	1	0	0	0	18156	536	19	1	1660	1	ZNF665	19	53669363	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1051167	53669363	5459620	242	34292											
KIR2DL3	3804	broad.mit.edu	37	chr19	55263867	55263867	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgacatatgcacagttgaatCactgcgttttcacacagaga	8	9	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:55263867C>A	ENST00000342376.3	+	8	953	c.922C>A	c.(922-924)Cac>Aac	p.H308N	KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		ACAGTTGAATCACTGCGTTTT	0.502													False	0	False	19:55263867	0	A	55263867	C	A	55263867	3	1	143	1	0	0	0	0	1	0	0	0	8367	826	29	3	952	3	KIR2DL3	19	55263867	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1594504	55263867	3865116	243	34293											
ZNF497	162968	broad.mit.edu	37	chr19	58867557	58867557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctcgttgaggttgcaaCggtggctgaaaggcttcccg	16	9	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:58867557C>T	ENST00000311044.3	-	3	1633	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	ZNF497_ENST00000425453.3_Missense_Mutation_p.R482H|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GAGGTTGCAACGGTGGCTGAA	0.697													False	0	False	19:58867557	0	T	58867557	C	T	58867557	3	4	143	1	0	0	0	0	1	0	0	0	18029	536	19	1	55	1	ZNF497	19	58867557	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3603690	58867557	261426	244	34294											
SEC23B	10483	broad.mit.edu	37	chr20	18492924	18492924	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atttctgttttcaaagaaatCaggtatgtgaattattttta	6	3	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:18492924C>A	ENST00000336714.3	+	3	709	c.277C>A	c.(277-279)Cag>Aag	p.Q93K	SEC23B_ENST00000377465.1_Missense_Mutation_p.Q93K|SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000262544.2_Missense_Mutation_p.Q93K|SEC23B_ENST00000377475.3_Missense_Mutation_p.Q93K	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	93					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCAAAGAAATCAGGTATGTGa	0.269													False	0	False	20:18492924	0	A	18492924	C	A	18492924	3	1	143	1	0	0	0	0	1	0	0	0	14073	827	29	3	283	3	SEC23B	20	18492924	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		18492924	44532596	245	34295											
CST11	140880	broad.mit.edu	37	chr20	23433311	23433311	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgatccactgcaagctGtccttcgcatagttttctac	8	12	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:23433311G>C	ENST00000377009.3	-	1	171	c.138C>G	c.(136-138)gaC>gaG	p.D46E	CST11_ENST00000377007.3_Missense_Mutation_p.D46E	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	46					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACTGCAAGCTGTCCTTCGCAT	0.473													False	0	False	20:23433311	0	C	23433311	G	C	23433311	3	2	143	1	0	0	0	0	1	0	0	0	3996	1368	48	5	290	5	CST11	20	23433311	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4940387	23433311	39592209	246	34296											
ADNP	23394	broad.mit.edu	37	chr20	49518611	49518611	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctcccatgtagtgtttttCaaataaaagtcattaggttc	6	8	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:49518611C>A	ENST00000396029.3	-	4	711	c.144G>T	c.(142-144)ttG>ttT	p.L48F	ADNP_ENST00000371602.4_Missense_Mutation_p.L48F|ADNP_ENST00000396032.3_Missense_Mutation_p.L48F|ADNP_ENST00000349014.3_Missense_Mutation_p.L48F	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	48						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TAGTGTTTTTCAAATAAAAGT	0.383													False	0	True	20:49518611	0	A	49518611	C	A	49518611	3	1	143	1	0	0	0	0	1	0	0	0	323	825	29	3	3172	3	ADNP	20	49518611	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	26085300	49518611	13506909	247	34297											
SPO11	23626	broad.mit.edu	37	chr20	55906923	55906923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catctatagaaaatattatcCaagacataatcacaagcttg	4	8	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:55906923C>A	ENST00000371263.3	+	2	275	c.166C>A	c.(166-168)Caa>Aaa	p.Q56K	SPO11_ENST00000371260.4_Intron|SPO11_ENST00000345868.4_Intron	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	56					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AAATATTATCCAAGACATAAT	0.323								Editing and processing nucleases					False	0	False	20:55906923	0	A	55906923	C	A	55906923	3	1	143	1	0	0	0	0	1	0	0	0	15159	595	21	3	172	3	SPO11	20	55906923	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6388312	55906923	7118597	248	34298											
CTCFL	140690	broad.mit.edu	37	chr20	56094287	56094287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtgttaacatggttccGcagcagagtgaccgtacgga	15	8	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:56094287G>A	ENST00000426658.2	-	3	1562	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	CTCFL_ENST00000432255.2_Missense_Mutation_p.R301W|CTCFL_ENST00000371196.2_Missense_Mutation_p.R301W|CTCFL_ENST00000433949.2_Missense_Mutation_p.R301W|CTCFL_ENST00000429804.2_Missense_Mutation_p.R301W|CTCFL_ENST00000423479.2_Missense_Mutation_p.R301W|CTCFL_ENST00000422869.2_Missense_Mutation_p.R301W|CTCFL_ENST00000243914.3_Missense_Mutation_p.R301W|CTCFL_ENST00000539382.1_Missense_Mutation_p.R96W|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000502686.2_Missense_Mutation_p.R39W|CTCFL_ENST00000422109.2_Missense_Mutation_p.R301W			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	301					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACATGGTTCCGCAGCAGAGTG	0.453													False	0	False	20:56094287	0	A	56094287	G	A	56094287	3	1	143	1	0	0	0	0	1	0	0	0	4026	1086	38	1	1122	1	CTCFL	20	56094287	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	187364	56094287	6931233	249	34299											
ZBP1	81030	broad.mit.edu	37	chr20	56189968	56189968	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtaaatcgtccatgctttGgactgctcatccatgtccag	9	12	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:56189968G>T	ENST00000340462.4	-	3	688	c.408C>A	c.(406-408)tcC>tcA	p.S136S	ZBP1_ENST00000541799.1_Silent_p.S159S|ZBP1_ENST00000343535.4_Silent_p.S159S|ZBP1_ENST00000371173.3_Silent_p.S159S|ZBP1_ENST00000395822.3_Silent_p.S84S			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	159						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCCATGCTTTGGACTGCTCAT	0.557													False	0	True	20:56189968	0	T	56189968	G	T	56189968	2	4	143	1	0	0	0	0	0	0	0	1	17604	1335	47	3		3	ZBP1	20	56189968	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	95681	56189968	6835552	250	34300											
CDH4	1002	broad.mit.edu	37	chr20	60511971	60511971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagattcaagaagctggcGgacatgtatggaggtggtga	15	7	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:60511971G>A	ENST00000360469.5	+	16	2809	c.2721G>A	c.(2719-2721)gcG>gcA	p.A907A	CDH4_ENST00000543233.1_Silent_p.A833A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	907					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGAAGCTGGCGGACATGTATG	0.602													False	0	False	20:60511971	0	A	60511971	G	A	60511971	2	1	143	1	0	0	0	0	0	0	0	1	3135	1103	39	1		1	CDH4	20	60511971	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4322003	60511971	2513549	251	34301											
C21orf59	56683	broad.mit.edu	37	chr21	33982250	33982250	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caatttcaattcttcaatctGatcatcggtcagtccttgca	5	11	6	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:33982250G>T	ENST00000382549.4	-	2	547	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	C21ORF59_ENST00000607686.1_Missense_Mutation_p.Q69K|C21orf59_ENST00000540881.1_Intron|C21orf59_ENST00000290155.3_Missense_Mutation_p.Q69K			P57076	CU059_HUMAN	chromosome 21 open reading frame 59	69						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TCTTCAATCTGATCATCGGTC	0.393													False	0	False	21:33982250	0	T	33982250	G	T	33982250	3	4	143	1	0	0	0	0	1	0	0	0	2146	1299	45	3	691	3	C21orf59	21	33982250	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08		33982250	14147645	252	34302											
SYNJ1	8867	broad.mit.edu	37	chr21	34051075	34051075	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgtcaaagaagttattctGaattgttcgggtaacagagc	11	6	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:34051075G>T	ENST00000382499.2	-	12	1506	c.1507C>A	c.(1507-1509)Cag>Aag	p.Q503K	SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q467K|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q503K|SYNJ1_ENST00000322229.7_Missense_Mutation_p.Q464K|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q464K	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	464	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAGTTATTCTGAATTGTTCGG	0.378													False	0	False	21:34051075	0	T	34051075	G	T	34051075	3	4	143	1	0	0	0	0	1	0	0	0	15534	1299	45	3	3440	3	SYNJ1	21	34051075	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	68825	34051075	14078820	253	34303											
SUMO3	6612	broad.mit.edu	37	chr21	46233942	46233942	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcagcggcgtgtgcctcttGatcttgaactgcaccacgga	11	13	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:46233942G>T	ENST00000332859.6	-	2	259	c.99C>A	c.(97-99)atC>atA	p.I33I	SUMO3_ENST00000397893.3_Silent_p.I33I|SUMO3_ENST00000411651.2_Silent_p.I33I|SUMO3_ENST00000397898.3_Silent_p.I33I|SUMO3_ENST00000479153.1_5'UTR	NM_006936.2	NP_008867.2	P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	33	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		TGTGCCTCTTGATCTTGAACT	0.622													False	0	True	21:46233942	0	T	46233942	G	T	46233942	2	4	143	1	0	0	0	0	0	0	0	1	15471	1280	45	3		3	SUMO3	21	46233942	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	12182867	46233942	1895953	254	34304											
MYO18B	84700	broad.mit.edu	37	chr22	26219559	26219559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggagctgaacacggccaCcttcaagcaccaccttcgac	9	15	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:26219559C>T	ENST00000335473.7	+	13	2859	c.2609C>T	c.(2608-2610)aCc>aTc	p.T870I	MYO18B_ENST00000536101.1_Missense_Mutation_p.T870I|MYO18B_ENST00000407587.2_Missense_Mutation_p.T870I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	870	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.T870I(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACACGGCCACCTTCAAGCAC	0.577													False	0	False	22:26219559	0	T	26219559	C	T	26219559	3	4	143	1	0	0	0	0	1	0	0	0	10133	507	18	2	2655	2	MYO18B	22	26219559	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		26219559	25085007	255	34305											
FBXO7	25793	broad.mit.edu	37	chr22	32894260	32894260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaggccatttcctagctccCgccttcctccaggaattatc	6	16	0	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:32894260C>A	ENST00000266087.7	+	9	1639	c.1312C>A	c.(1312-1314)Cgc>Agc	p.R438S	FBXO7_ENST00000382058.3_Missense_Mutation_p.R359S|FBXO7_ENST00000397426.1_Missense_Mutation_p.R324S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	438					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTAGCTCCCGCCTTCCTCC	0.527													False	0	True	22:32894260	0	A	32894260	C	A	32894260	3	1	143	1	0	0	0	0	1	0	0	0	5800	652	23	3	1387	3	FBXO7	22	32894260	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6674701	32894260	18410306	256	34306											
MGAT3	4248	broad.mit.edu	37	chr22	39884255	39884255	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcctcacccaggacggcgtCtcgcggctgcgcaacctgcg	12	17	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884255C>A	ENST00000341184.6	+	2	1118	c.903C>A	c.(901-903)gtC>gtA	p.V301V		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	301					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					AGGACGGCGTCTCGCGGCTGC	0.657													False	0	False	22:39884255	0	A	39884255	C	A	39884255	2	1	143	1	0	0	0	0	0	0	0	1	9611	900	32	3		3	MGAT3	22	39884255	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6989995	39884255	11420311	257	34307			1	27		3	3	382	C		5.213706e-06
MGAT3	4248	broad.mit.edu	37	chr22	39884489	39884489	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtatgggctggacggcatCcgcctgcgccgccgccagta	15	14	0	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884489C>T	ENST00000341184.6	+	2	1352	c.1137C>T	c.(1135-1137)atC>atT	p.I379I		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	379					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGGACGGCATCCGCCTGCGCC	0.647													False	0	False	22:39884489	0	T	39884489	C	T	39884489	2	4	143	1	0	0	0	0	0	0	0	1	9611	845	30	2		2	MGAT3	22	39884489	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	234	39884489	11420077	258	34308			1	27		3	3	382	C		5.213706e-06
MGAT3	4248	broad.mit.edu	37	chr22	39884636	39884636	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcttcacgcccgagggcatCtacttcaagctcgtgtccgc	10	15	3	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884636C>T	ENST00000341184.6	+	2	1499	c.1284C>T	c.(1282-1284)atC>atT	p.I428I		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	428					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCGAGGGCATCTACTTCAAGC	0.652													False	0	False	22:39884636	0	T	39884636	C	T	39884636	2	4	143	1	0	0	0	0	0	0	0	1	9611	903	32	2		2	MGAT3	22	39884636	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	147	39884636	11419930	259	34309			1	27		3	3	382	C		5.213706e-06
TNRC6B	23112	broad.mit.edu	37	chr22	40662002	40662002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacagtcataactctggcCgtcggtcgtacaggcccaca	11	13	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:40662002C>T	ENST00000454349.2	+	5	1979	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	TNRC6B_ENST00000335727.8_Missense_Mutation_p.R590C|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	590					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TAACTCTGGCCGTCGGTCGTA	0.527													False	0	True	22:40662002	0	T	40662002	C	T	40662002	3	4	143	1	0	0	0	0	1	0	0	0	16423	652	23	1	1907	1	TNRC6B	22	40662002	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	777366	40662002	10642564	260	34310											
EFCAB6	64800	broad.mit.edu	37	chr22	44127685	44127685	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgtggatgttgtagtgtttCgaaaacctaaaatacaaatg	9	4	0	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:44127685C>A	ENST00000262726.7	-	8	904	c.651G>T	c.(649-651)tcG>tcT	p.S217S	EFCAB6_ENST00000356087.4_Silent_p.S111S|EFCAB6_ENST00000396231.2_Silent_p.S65S|EFCAB6_ENST00000358439.4_Silent_p.S111S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGTAGTGTTTCGAAAACCTAA	0.333													False	0	True	22:44127685	0	A	44127685	C	A	44127685	2	1	143	1	0	0	0	0	0	0	0	1	4969	871	31	3		3	EFCAB6	22	44127685	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3465683	44127685	7176881	261	34311											
CPT1B	1375	broad.mit.edu	37	chr22	51012928	51012928	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgacgcaactcacaggcttGatttcttcacggtccagttt	8	12	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:51012928G>T	ENST00000360719.2	-	8	1016	c.879C>A	c.(877-879)atC>atA	p.I293I	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.I90I|CPT1B_ENST00000395650.2_Silent_p.I293I|CPT1B_ENST00000405237.3_Silent_p.I293I|CPT1B_ENST00000457250.1_Silent_p.I259I|CPT1B_ENST00000440709.1_Silent_p.I293I|CPT1B_ENST00000312108.7_Silent_p.I293I	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	293					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCACAGGCTTGATTTCTTCAC	0.557													False	0	False	22:51012928	0	T	51012928	G	T	51012928	2	4	143	1	0	0	0	0	0	0	0	1	3855	1280	45	3		3	CPT1B	22	51012928	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	6885243	51012928	291638	262	34312											
RPS6KA6	27330	broad.mit.edu	37	chrX	83372157	83372157	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggcattccaagttttgctCtgaaacagaggattttagaa	10	6	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chrX:83372157C>A	ENST00000262752.2	-	11	868		c.e11-1		RPS6KA6_ENST00000543399.1_Splice_Site	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6						axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAGTTTTGCTCTGAAACAGAG	0.323													False	0	False	X:83372157	0	A	83372157	C	A	83372157	5	1	143	1	0	0	0	0	0	0	1	0	13734	927	32	3	1425	3	RPS6KA6	23	83372157	Splice_Site	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		83372157	71898403	263	34313											
VAMP7	6845	broad.mit.edu	37	chrX	155169433	155169435	+	In_Frame_Del	DEL	TAT	TAT	-													atgaagaacctcaagctcacTattatcatcatcatcgtatc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	TAT	TAT	-	-	TAT	TAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chrX:155169433_155169435delTAT	ENST00000286448.6	+	7	735_737	c.570_572delTAT	c.(568-573)actatt>act	p.I195del	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_In_Frame_Del_p.I154del|VAMP7_ENST00000262640.6_In_Frame_Del_p.Y169del	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	195					calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAAGCTCACTATTATCATCATC	0.355													False	2	False	X:155169433	0	-	155169435	TAT	-	155169433	7	5	143	1	0	1	0	1	0	0	0	0	17201	1522	53	0	592	0	VAMP7	23	155169433	In_Frame_Del	DEL	TAT	TCGA-YB-A89D-01A-12D-A36O-08	71797276	155169433	101127	264	34314											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809344	18809344	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctccccagtgacacgttCgccctggcgcacacggccac	10	20	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:18809344C>T	ENST00000400664.1	+	1	1921	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	623						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACACGTTCGCCCTGGCGC	0.667													False	0	False	1:18809344	0	T	18809344	C	T	18809344	2	4	144	1	0	0	0	0	0	0	0	1	8410	883	31	1		1	KLHDC7A	1	18809344	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08		18809344	230441277	1	34315											
MECR	51102	broad.mit.edu	37	chr1	29543100	29543100	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacagaaaccaaggttacCttggatcatatttatgtcag	8	9	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:29543100C>A	ENST00000373791.3	-	2	418	c.46G>T	c.(46-48)Gga>Tga	p.G16*	MECR_ENST00000263702.6_Splice_Site_p.G92*|MECR_ENST00000489248.1_5'UTR	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	92					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CCAAGGTTACCTTGGATCATA	0.458													False	0	False	1:29543100	0	A	29543100	C	A	29543100	5	1	144	1	0	0	0	0	0	0	1	0	9491	695	24	3	883	3	MECR	1	29543100	Splice_Site	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	10733756	29543100	219707521	2	34316											
STK40	83931	broad.mit.edu	37	chr1	36807372	36807372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttatttccgcaggtagCgctgcgccaggatggccgtg	15	11	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:36807372C>T	ENST00000373129.3	-	12	1698	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	STK40_ENST00000373132.3_Missense_Mutation_p.R431H|STK40_ENST00000373130.3_Missense_Mutation_p.R436H|STK40_ENST00000359297.2_3'UTR	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	431						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CCGCAGGTAGCGCTGCGCCAG	0.672													False	0	False	1:36807372	0	T	36807372	C	T	36807372	3	4	144	1	0	0	0	0	1	0	0	0	15389	768	27	1	19	1	STK40	1	36807372	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	7264272	36807372	212443249	3	34317											
PTCH2	8643	broad.mit.edu	37	chr1	45288266	45288266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcagggaggaggatgCcccccacctaagcccgcctc	14	16	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:45288266C>T	ENST00000372192.3	-	22	3563	c.3433G>A	c.(3433-3435)Gca>Aca	p.A1145T	PTCH2_ENST00000447098.2_Intron	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1145					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GAGGAGGATGCCCCCCACCTA	0.627									Basal Cell Nevus syndrome				False	0	True	1:45288266	0	T	45288266	C	T	45288266	3	4	144	1	0	0	0	0	1	0	0	0	12807	739	26	2	202	2	PTCH2	1	45288266	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	8480894	45288266	203962355	4	34318											
ELAVL4	1996	broad.mit.edu	37	chr1	50642759	50642759	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctttttaatatttccacAggacagagtttagggtatgg	9	6	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:50642759A>G	ENST00000371824.1	+	3	507		c.e3-1		ELAVL4_ENST00000371821.1_Splice_Site|ELAVL4_ENST00000371823.4_Splice_Site|ELAVL4_ENST00000492299.1_Splice_Site|ELAVL4_ENST00000371819.1_Splice_Site|ELAVL4_ENST00000448907.2_Splice_Site|ELAVL4_ENST00000371827.1_Splice_Site|ELAVL4_ENST00000357083.4_Splice_Site			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4						mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						ATATTTCCACAGGACAGAGTT	0.403													False	0	False	1:50642759	0	G	50642759	A	G	50642759	5	3	144	1	0	0	0	0	0	0	1	0	5084	202	7	4	358	4	ELAVL4	1	50642759	Splice_Site	SNP	A	TCGA-YH-A8SY-01A-11D-A377-08	5354493	50642759	198607862	5	34319											
HFM1	164045	broad.mit.edu	37	chr1	91739306	91739306	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatggttcttgtctaactttTccatagatttcaggctgatc	8	8	3	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:91739306T>A	ENST00000370425.3	-	34	3833	c.3735A>T	c.(3733-3735)ggA>ggT	p.G1245G	HFM1_ENST00000294696.5_Silent_p.G477G|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.G924G	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1245							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTCTAACTTTTCCATAGATTT	0.313													False	0	True	1:91739306	0	A	91739306	T	A	91739306	2	1	144	1	0	0	0	0	0	0	0	1	7130	1770	62	5		5	HFM1	1	91739306	Silent	SNP	T	TCGA-YH-A8SY-01A-11D-A377-08	41096547	91739306	157511315	6	34320											
HFM1	164045	broad.mit.edu	37	chr1	91846537	91846537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaatacttctaaattttgCcgcttacaataacattaagg	5	7	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:91846537C>T	ENST00000370425.3	-	7	903	c.805G>A	c.(805-807)Gca>Aca	p.A269T	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	269							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.A269T(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTAAATTTTGCCGCTTACAAT	0.219													False	0	False	1:91846537	0	T	91846537	C	T	91846537	3	4	144	1	0	0	0	0	1	0	0	0	7130	739	26	2	3634	2	HFM1	1	91846537	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	107231	91846537	157404084	7	34321											
WDR77	79084	broad.mit.edu	37	chr1	111991320	111991320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccgtttggactccggcGgagcagaagccttcgttggg	15	12	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:111991320G>A	ENST00000235090.5	-	2	428	c.222C>T	c.(220-222)tcC>tcT	p.S74S	WDR77_ENST00000411751.2_Silent_p.S74S	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	74					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGACTCCGGCGGAGCAGAAGC	0.622													False	0	False	1:111991320	0	A	111991320	G	A	111991320	2	1	144	1	0	0	0	0	0	0	0	1	17411	1103	39	1		1	WDR77	1	111991320	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	20144783	111991320	137259301	8	34322											
NGF	4803	broad.mit.edu	37	chr1	115829176	115829176	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacggggtgaacggagtcGccgctttttaaacagcctgg	13	11	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:115829176G>A	ENST00000369512.2	-	3	409	c.241C>T	c.(241-243)Cga>Tga	p.R81*	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	81					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GAACGGAGTCGCCGCTTTTTA	0.642													False	0	False	1:115829176	0	A	115829176	G	A	115829176	4	1	144	1	0	0	0	0	0	1	0	0	10463	1095	38	1	488	1	NGF	1	115829176	Nonsense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	3837856	115829176	133421445	9	34323											
SYT2	127833	broad.mit.edu	37	chr1	202568444	202568444	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcttcttgagcctctTgccattctgcatcaggtgga	8	12	6	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:202568444T>G	ENST00000367267.1	-	8	1147	c.955A>C	c.(955-957)Aag>Cag	p.K319Q	SYT2_ENST00000367268.4_Missense_Mutation_p.K319Q	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	319	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TTGAGCCTCTTGCCATTCTGC	0.532													False	0	False	1:202568444	0	G	202568444	T	G	202568444	3	3	144	1	0	0	0	0	1	0	0	0	15556	1821	63	4	312	4	SYT2	1	202568444	Missense_Mutation	SNP	T	TCGA-YH-A8SY-01A-11D-A377-08	86739268	202568444	46682177	10	34324											
USH2A	7399	broad.mit.edu	37	chr1	215987140	215987140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggttgtgcctcctgtattCggccaccacaacaaactcca	7	14	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:215987140C>T	ENST00000366943.2	-	49	10063	c.9677G>A	c.(9676-9678)cGa>cAa	p.R3226Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R3226Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3226					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCTGTATTCGGCCACCACA	0.453										HNSCC(13;0.011)			False	0	False	1:215987140	0	T	215987140	C	T	215987140	3	4	144	1	0	0	0	0	1	0	0	0	17120	884	31	1	6027	1	USH2A	1	215987140	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	13418696	215987140	33263481	11	34325											
FMN2	56776	broad.mit.edu	37	chr1	240371129	240371129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcccccacttcccggagCgggcataccccctcctcccc	7	24	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:240371129C>T	ENST00000319653.9	+	5	3247	c.3017C>T	c.(3016-3018)gCg>gTg	p.A1006V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1006	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTTCCCGGAGCGGGCATACCC	0.721													False	0	True	1:240371129	0	T	240371129	C	T	240371129	3	4	144	1	0	0	0	0	1	0	0	0	5990	768	27	1	3035	1	FMN2	1	240371129	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	24383989	240371129	8879492	12	34326											
PXDN	7837	broad.mit.edu	37	chr2	1643096	1643096	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtattttccgtggtcttgTtttcttggtcggcttgtcct	12	8	2	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:1643096T>A	ENST00000252804.4	-	20	4101	c.4051A>T	c.(4051-4053)Aca>Tca	p.T1351S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1351					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGTGGTCTTGTTTTCTTGGTC	0.562													False	0	True	2:1643096	0	A	1643096	T	A	1643096	3	1	144	1	0	0	0	0	1	0	0	0	12926	1725	60	5	404	5	PXDN	2	1643096	Missense_Mutation	SNP	T	TCGA-YH-A8SY-01A-11D-A377-08		1643096	241556277	13	34327											
DPYSL5	56896	broad.mit.edu	37	chr2	27150261	27150261	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaaggacattggggcaatCgcccgcgtccatgctgaaaa	12	11	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:27150261C>T	ENST00000288699.6	+	4	719	c.561C>T	c.(559-561)atC>atT	p.I187I	DPYSL5_ENST00000401478.1_Silent_p.I187I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	187					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGGGCAATCGCCCGCGTCC	0.527													False	0	False	2:27150261	0	T	27150261	C	T	27150261	2	4	144	1	0	0	0	0	0	0	0	1	4780	874	31	1		1	DPYSL5	2	27150261	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	25507165	27150261	216049112	14	34328											
TLX2	3196	broad.mit.edu	37	chr2	74742813	74742813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggccacccctaccaaaacCggacccctccgaagcggaag	9	17	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:74742813C>T	ENST00000233638.7	+	2	777	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						CTACCAAAACCGGACCCCTCC	0.657													False	0	False	2:74742813	0	T	74742813	C	T	74742813	3	4	144	1	0	0	0	0	1	0	0	0	16043	643	23	1	460	1	TLX2	2	74742813	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	47592552	74742813	168456560	15	34329											
AFF3	3899	broad.mit.edu	37	chr2	100210257	100210257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggttttggtgggctcCggggggaccaccacgctcgt	17	12	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:100210257C>T	ENST00000409236.2	-	13	1978	c.1866G>A	c.(1864-1866)ccG>ccA	p.P622P	AFF3_ENST00000356421.2_Silent_p.P647P|AFF3_ENST00000409579.1_Silent_p.P647P|AFF3_ENST00000317233.4_Silent_p.P622P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGGTGGGCTCCGGGGGGACCA	0.736													False	0	True	2:100210257	0	T	100210257	C	T	100210257	2	4	144	1	0	0	0	0	0	0	0	1	358	639	23	1		1	AFF3	2	100210257	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	25467444	100210257	142989116	16	34330											
STEAP3	55240	broad.mit.edu	37	chr2	120005557	120005557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgtgcgtggcctacgtGctgctgtcactcgtgtactt	12	13	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:120005557G>A	ENST00000354888.5	+	4	1299	c.795G>A	c.(793-795)gtG>gtA	p.V265V	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000409811.1_Silent_p.V265V|STEAP3_ENST00000425223.2_Silent_p.V265V|STEAP3_ENST00000393110.2_Silent_p.V275V|STEAP3_ENST00000450943.2_Silent_p.V265V|STEAP3_ENST00000393106.2_Silent_p.V265V|STEAP3_ENST00000393108.2_Silent_p.V265V|STEAP3_ENST00000393107.2_Silent_p.V265V	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	265	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TGGCCTACGTGCTGCTGTCAC	0.647													False	0	False	2:120005557	0	A	120005557	G	A	120005557	2	1	144	1	0	0	0	0	0	0	0	1	15361	1306	46	2		2	STEAP3	2	120005557	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	19795300	120005557	123193816	17	34331											
ATP2B2	491	broad.mit.edu	37	chr3	10452358	10452358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagggagatgatggcgGcaatctccaggatgatgagc	15	10	1	4			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:10452358G>A	ENST00000397077.1	-	5	916	c.341C>T	c.(340-342)gCc>gTc	p.A114V	ATP2B2_ENST00000383800.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A114V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A114V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	114					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATGATGGCGGCAATCTCCAG	0.592													False	0	False	3:10452358	0	A	10452358	G	A	10452358	3	1	144	1	0	0	0	0	1	0	0	0	1144	1203	42	2	3474	2	ATP2B2	3	10452358	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		10452358	187570072	18	34332											
SLC4A7	9497	broad.mit.edu	37	chr3	27431523	27431523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatggaccttccagagcgGcacataacggaggtatatca	10	9	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:27431523G>A	ENST00000295736.5	-	22	3302	c.3232C>T	c.(3232-3234)Ccg>Tcg	p.P1078S	SLC4A7_ENST00000435667.2_Missense_Mutation_p.P963S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P1074S|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P954S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P1074S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P959S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P959S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P1070S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P628S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P1087S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1078						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TTCCAGAGCGGCACATAACGG	0.373													False	0	False	3:27431523	0	A	27431523	G	A	27431523	3	1	144	1	0	0	0	0	1	0	0	0	14738	1203	42	2	428	2	SLC4A7	3	27431523	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	16979165	27431523	170590907	19	34333											
FBXL2	25827	broad.mit.edu	37	chr3	33400492	33400492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatatagtaactttgtgCcgatgtgcacagatttccaa	9	7	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:33400492C>T	ENST00000484457.1	+	3	190	c.99C>T	c.(97-99)tgC>tgT	p.C33C	FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000507198.1_Silent_p.C33C|FBXL2_ENST00000538892.1_Silent_p.C33C|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	33	F-box.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	p.C33C(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TAACTTTGTGCCGATGTGCAC	0.289													False	0	False	3:33400492	0	T	33400492	C	T	33400492	2	4	144	1	0	0	0	0	0	0	0	1	5756	747	26	2		2	FBXL2	3	33400492	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	5968969	33400492	164621938	20	34334											
CACNA1D	776	broad.mit.edu	37	chr3	53810001	53810001	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtcagattacaaccccgggGaggagtatacatgtgggagc	14	8	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:53810001G>T	ENST00000288139.4	+	36	4469	c.4351G>T	c.(4351-4353)Gag>Tag	p.E1451*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E1416*|CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.E323*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.E1431*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit		Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAACCCCGGGGAGGAGTATAC	0.507													False	0	True	3:53810001	0	T	53810001	G	T	53810001	4	4	144	1	0	0	0	0	0	1	0	0	2561	1175	41	3	4601	3	CACNA1D	3	53810001	Nonsense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	20409509	53810001	144212429	21	34335											
WNT5A	7474	broad.mit.edu	37	chr3	55504434	55504434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccccggctgttgagccGcatggccgccgcgctgtcgt	14	16	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:55504434G>A	ENST00000474267.1	-	6	1350	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	WNT5A_ENST00000497027.1_Missense_Mutation_p.R262W|WNT5A_ENST00000264634.4_Missense_Mutation_p.R277W			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	277					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CTGTTGAGCCGCATGGCCGCC	0.612													False	0	False	3:55504434	0	A	55504434	G	A	55504434	3	1	144	1	0	0	0	0	1	0	0	0	17475	1086	38	1	317	1	WNT5A	3	55504434	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	1694433	55504434	142517996	22	34336											
UPK1B	7348	broad.mit.edu	37	chr3	118913171	118913171	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggcctcgtcaatgctgtGttatgaacaatcttaaagaa	8	9	2	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:118913171G>T	ENST00000264234.3	+	6	723	c.574G>T	c.(574-576)Gtt>Ttt	p.V192F	UPK1B_ENST00000460625.1_Missense_Mutation_p.V184F|UPK1B_ENST00000497685.1_Missense_Mutation_p.V112F	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	192					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		TCAATGCTGTGTTATGAACAA	0.463													False	0	False	3:118913171	0	T	118913171	G	T	118913171	3	4	144	1	0	0	0	0	1	0	0	0	17092	1377	48	3	592	3	UPK1B	3	118913171	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	63408737	118913171	79109259	23	34337											
CLSTN2	64084	broad.mit.edu	37	chr3	140277663	140277663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagattgtgagcaccttcGccaaaaccgaagcccccggg	10	14	1	2	rs137889465		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:140277663G>A	ENST00000458420.3	+	12	2195	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	669					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A669T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAGCACCTTCGCCAAAACCGA	0.532										HNSCC(16;0.037)			False	0	False	3:140277663	0	A	140277663	G	A	140277663	3	1	144	1	0	0	0	0	1	0	0	0	3585	1087	38	1	2051	1	CLSTN2	3	140277663	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	21364492	140277663	57744767	24	34338											
ATP11B	23200	broad.mit.edu	37	chr3	182591715	182591715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgagtttatcatgtggcCattttcatagaaccatgaac	9	7	2	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:182591715C>T	ENST00000323116.5	+	19	2424	c.2164C>T	c.(2164-2166)Cat>Tat	p.H722Y		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	722					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCATGTGGCCATTTTCATAG	0.398													False	0	False	3:182591715	0	T	182591715	C	T	182591715	3	4	144	1	0	0	0	0	1	0	0	0	1124	594	21	2	2238	2	ATP11B	3	182591715	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	42314052	182591715	15430715	25	34339											
ABCF3	55324	broad.mit.edu	37	chr3	183907382	183907382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagtcgtctcccacgaccGcaacttcttgaatgccatcg	7	16	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:183907382G>A	ENST00000429586.2	+	13	1336	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H	ABCF3_ENST00000292808.5_Missense_Mutation_p.R378H|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	384	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCCACGACCGCAACTTCTTG	0.587													False	0	False	3:183907382	0	A	183907382	G	A	183907382	3	1	144	1	0	0	0	0	1	0	0	0	67	1087	38	1	1201	1	ABCF3	3	183907382	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	1315667	183907382	14115048	26	34340											
EPHA5	2044	broad.mit.edu	37	chr4	66230893	66230893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcctggtagtttcaaaCgtccactacaaacttcacca	4	12	2	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:66230893C>T	ENST00000273854.3	-	12	2678	c.2078G>A	c.(2077-2079)cGt>cAt	p.R693H	EPHA5_ENST00000354839.4_Missense_Mutation_p.R671H|EPHA5_ENST00000432638.2_Missense_Mutation_p.R530H|EPHA5_ENST00000511294.1_Missense_Mutation_p.R694H	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	693	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.R693H(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TAGTTTCAAACGTCCACTACA	0.358										TSP Lung(17;0.13)			False	0	True	4:66230893	0	T	66230893	C	T	66230893	3	4	144	1	0	0	0	0	1	0	0	0	5202	536	19	1	1063	1	EPHA5	4	66230893	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08		66230893	124923383	27	34341											
THAP9	79725	broad.mit.edu	37	chr4	83827666	83827666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaaaaagacttatctccGtaaagaactacaggatgatc	6	9	1	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:83827666G>A	ENST00000302236.5	+	3	517	c.466G>A	c.(466-468)Gta>Ata	p.V156I		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	156							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ACTTATCTCCGTAAAGAACTA	0.388													False	0	False	4:83827666	0	A	83827666	G	A	83827666	3	1	144	1	0	0	0	0	1	0	0	0	15933	1145	40	1	476	1	THAP9	4	83827666	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	17596773	83827666	107326610	28	34342											
OTUD4	54726	broad.mit.edu	37	chr4	146058966	146058966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctgttttttctttcagGctttgaatggtccttttagg	8	6	3	1	rs146975610	by1000genomes	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:146058966G>A	ENST00000454497.2	-	21	2903	c.2766C>T	c.(2764-2766)agC>agT	p.S922S	OTUD4_ENST00000447906.2_Silent_p.S987S|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	986							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TTTCTTTCAGGCTTTGAATGG	0.453													False	0	False	4:146058966	0	A	146058966	G	A	146058966	2	1	144	1	0	0	0	0	0	0	0	1	11382	1194	42	2		2	OTUD4	4	146058966	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	62231300	146058966	45095310	29	34343											
TIGD4	201798	broad.mit.edu	37	chr4	153691293	153691293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggatgtgctggaaaagaCtcaacaaaaatcaccactct	7	10	4	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:153691293C>T	ENST00000304337.2	-	2	1684	c.864G>A	c.(862-864)gaG>gaA	p.E288E		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	288	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CTGGAAAAGACTCAACAAAAA	0.398													False	0	False	4:153691293	0	T	153691293	C	T	153691293	2	4	144	1	0	0	0	0	0	0	0	1	15980	564	20	2		2	TIGD4	4	153691293	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	7632327	153691293	37462983	30	34344											
ZNF622	90441	broad.mit.edu	37	chr5	16453182	16453182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactcggcccacggccttccGatttttggcaactgccacag	9	15	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:16453182G>A	ENST00000308683.2	-	5	1372	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	416						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ACGGCCTTCCGATTTTTGGCA	0.498													False	0	False	5:16453182	0	A	16453182	G	A	16453182	3	1	144	1	0	0	0	0	1	0	0	0	18129	1057	37	1	195	1	ZNF622	5	16453182	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		16453182	164462078	31	34345											
HTR1A	3350	broad.mit.edu	37	chr5	63257304	63257304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccgacaccatgaggtcGgtgaccgccaaagagccaat	10	13	0	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:63257304G>A	ENST00000323865.3	-	1	476	c.243C>T	c.(241-243)acC>acT	p.T81T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	81					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCATGAGGTCGGTGACCGCCA	0.612													False	0	False	5:63257304	0	A	63257304	G	A	63257304	2	1	144	1	0	0	0	0	0	0	0	1	7486	1103	39	1		1	HTR1A	5	63257304	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	46804122	63257304	117657956	32	34346											
JMY	133746	broad.mit.edu	37	chr5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-													cccatcccctcttcctccaaCaccaccacctcccccacctc							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534													False	1	False	5:78610444	0	-	78610479	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	78610444	7	5	144	1	0	1	0	1	0	0	0	0	8007	478	17	0	2463	0	JMY	5	78610444	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	TCGA-YH-A8SY-01A-11D-A377-08	15353140	78610444	102304816	33	34347											
RASA1	5921	broad.mit.edu	37	chr5	86672813	86672813	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcttcacgaaaagcttgaatCgttgttgttatgcacactaa	7	8	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:86672813C>A	ENST00000456692.2	+	17	1884	c.1769C>A	c.(1768-1770)tCg>tAg	p.S590*	RASA1_ENST00000506290.1_Nonsense_Mutation_p.S601*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.S600*|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000274376.6_Nonsense_Mutation_p.S767*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	767	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGCTTGAATCGTTGTTGTTA	0.383													False	0	True	5:86672813	0	A	86672813	C	A	86672813	4	1	144	1	0	0	0	0	0	1	0	0	13139	893	31	3	2378	3	RASA1	5	86672813	Nonsense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	8062369	86672813	94242447	34	34348											
PCDHB3	0	broad.mit.edu	37	chr5	140481563	140481563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccgtgctggtctccgacGtcaatgacaacgcccccgcc	9	17	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:140481563G>A	ENST00000231130.2	+	1	1330	c.1330G>A	c.(1330-1332)Gtc>Atc	p.V444I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		444	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCGACGTCAATGACAA	0.562													False	0	False	5:140481563	0	A	140481563	G	A	140481563	3	1	144	1	0	0	0	0	1	0	0	0	11611	1145	40	1	1332	1	PCDHB3	5	140481563	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	53808750	140481563	40433697	35	34349											
PCDHGA1	0	broad.mit.edu	37	chr5	140712177	140712177	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacgcgctcaagcagagtctCgtggtggccgtccaggacca	14	13	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:140712177C>T	ENST00000517417.1	+	1	1926	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L	PCDHGA1_ENST00000378105.3_Silent_p.L642L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAGTCTCGTGGTGGCCG	0.701													False	0	False	5:140712177	0	T	140712177	C	T	140712177	2	4	144	1	0	0	0	0	0	0	0	1	11618	871	31	1		1	PCDHGA1	5	140712177	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	230614	140712177	40203083	36	34350											
MYOZ3	91977	broad.mit.edu	37	chr5	150050154	150050154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttccagaagaggcagcGccgtgtgcagaagttcactt	11	12	2	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:150050154G>A	ENST00000297130.4	+	3	369	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MYOZ3_ENST00000517768.1_Missense_Mutation_p.R57H	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	57	Binding to ACTN2, PPP3CA and TCAP.					sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAGGCAGCGCCGTGTGCAG	0.582													False	0	False	5:150050154	0	A	150050154	G	A	150050154	3	1	144	1	0	0	0	0	1	0	0	0	10164	1087	38	1	176	1	MYOZ3	5	150050154	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	9337977	150050154	30865106	37	34351											
KCNMB1	0	broad.mit.edu	37	chr5	169812420	169812420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagggctcgtgtctctcccCgcttctgggccatcaccagc	10	16	3	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:169812420C>T	ENST00000274629.4	-	2	474	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	KCNMB1_ENST00000521859.1_Missense_Mutation_p.R11Q|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	11					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGTCTCTCCCCGCTTCTGGGC	0.537													False	0	True	5:169812420	0	T	169812420	C	T	169812420	3	4	144	1	0	0	0	0	1	0	0	0	8124	652	23	1	555	1	KCNMB1	5	169812420	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	19762266	169812420	11102840	38	34352											
HK3	3101	broad.mit.edu	37	chr5	176308805	176308805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatgtaaaaggatgtggcGgacgatctcccccaggtaca	11	9	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:176308805G>A	ENST00000292432.5	-	17	2372	c.2281C>T	c.(2281-2283)Cgc>Tgc	p.R761C		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	761	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGATGTGGCGGACGATCTCC	0.562													False	0	False	5:176308805	0	A	176308805	G	A	176308805	3	1	144	1	0	0	0	0	1	0	0	0	7239	1116	39	1	502	1	HK3	5	176308805	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	6496385	176308805	4606455	39	34353											
CANX	821	broad.mit.edu	37	chr5	179151711	179151728	+	In_Frame_Del	DEL	GAAGGAAGAGGAAGAAGA	GAAGGAAGAGGAAGAAGA	-													gatgcacctcaaccggatgtGaaggaagaggaagaagagaa							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	GAAGGAAGAGGAAGAAGA	GAAGGAAGAGGAAGAAGA	-	-	GAAGGAAGAGGAAGAAGA	GAAGGAAGAGGAAGAAGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:179151711_179151728delGAAGGAAGAGGAAGAAGA	ENST00000247461.4	+	13	1772_1789	c.1572_1589delGAAGGAAGAGGAAGAAGA	c.(1570-1590)gtgaaggaagaggaagaagag>gtg	p.KEEEEE525del	CANX_ENST00000415618.2_In_Frame_Del_p.KEEEEE560del|CANX_ENST00000504734.1_In_Frame_Del_p.KEEEEE525del|CANX_ENST00000512607.2_In_Frame_Del_p.KEEEEE417del|CANX_ENST00000452673.2_In_Frame_Del_p.KEEEEE525del	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	525					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACCGGATGTGAaggaagaggaagaagagaaggaagag	0.413													False	1	True	5:179151711	0	-	179151728	GAAGGAAGAGGAAGAAGA	-	179151711	7	5	144	1	0	1	0	1	0	0	0	0	2638	1277	45	0	1618	0	CANX	5	179151711	In_Frame_Del	DEL	GAAGGAAGAGGAAGAAGA	TCGA-YH-A8SY-01A-11D-A377-08	2842906	179151711	1763549	40	34354											
GFPT2	9945	broad.mit.edu	37	chr5	179763567	179763567	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acttcgtgattattcccatcGatcgccacacctgtgatgta	7	12	0	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:179763567G>C	ENST00000253778.8	-	3	295	c.126C>G	c.(124-126)atC>atG	p.I42M		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	42	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TATTCCCATCGATCGCCACAC	0.473													False	0	True	5:179763567	0	C	179763567	G	C	179763567	3	2	144	1	0	0	0	0	1	0	0	0	6391	1048	37	5	1990	5	GFPT2	5	179763567	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	611856	179763567	1151693	41	34355											
FOXQ1	94234	broad.mit.edu	37	chr6	1313512	1313526	+	In_Frame_Del	DEL	CAACTACTGGATGCT	CAACTACTGGATGCT	-													tcgcggccctggggcaaggaCaactactggatgctcaaccc					rs112141050		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	CAACTACTGGATGCT	CAACTACTGGATGCT	-	-	CAACTACTGGATGCT	CAACTACTGGATGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:1313512_1313526delCAACTACTGGATGCT	ENST00000296839.2	+	1	838_852	c.573_587delCAACTACTGGATGCT	c.(571-588)gacaactactggatgctc>gac	p.NYWML192del		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	192					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GGGGCAAGGACAACTACTGGATGCTCAACCCCAAC	0.707													False	1	False	6:1313512	0	-	1313526	CAACTACTGGATGCT	-	1313512	7	5	144	1	0	1	0	1	0	0	0	0	6072	477	17	0	575	0	FOXQ1	6	1313512	In_Frame_Del	DEL	CAACTACTGGATGCT	TCGA-YH-A8SY-01A-11D-A377-08		1313512	169801555	42	34356											
COL28A1	340267	broad.mit.edu	37	chr7	7570984	7570984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccattaggtacctaccagacGatcttgaattttatctacaa	5	10	2	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:7570984G>A	ENST00000399429.3	-	3	816	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	226	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTACCAGACGATCTTGAATT	0.373													False	0	False	7:7570984	0	A	7570984	G	A	7570984	3	1	144	1	0	0	0	0	1	0	0	0	3709	1058	37	1	2833	1	COL28A1	7	7570984	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		7570984	151567679	43	34357											
GARS	2617	broad.mit.edu	37	chr7	30656770	30656770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaggctatttcattggccGcatctacctctacctcacga	6	13	4	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:30656770G>A	ENST00000389266.3	+	10	1476	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	412					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.R412H(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TTCATTGGCCGCATCTACCTC	0.433													False	0	False	7:30656770	0	A	30656770	G	A	30656770	3	1	144	1	0	0	0	0	1	0	0	0	6285	1087	38	1	1273	1	GARS	7	30656770	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	23085786	30656770	128481893	44	34358											
ADCY1	107	broad.mit.edu	37	chr7	45688285	45688285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggagaaccactgtcgccGcatcaagattctcggggact	12	11	2	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:45688285G>A	ENST00000297323.7	+	5	1059	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	ADCY1_ENST00000432715.1_Missense_Mutation_p.R121H	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	346					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CACTGTCGCCGCATCAAGATT	0.587													False	0	False	7:45688285	0	A	45688285	G	A	45688285	3	1	144	1	0	0	0	0	1	0	0	0	292	1087	38	1	1055	1	ADCY1	7	45688285	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	15031515	45688285	113450378	45	34359											
SEMA3E	9723	broad.mit.edu	37	chr7	83029563	83029563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccatttactttgctggCacactgaaaaacaagtggat	7	11	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:83029563C>T	ENST00000307792.3	-	11	1614	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A323T	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	383	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACTTTGCTGGCACACTGAAAA	0.373													False	0	False	7:83029563	0	T	83029563	C	T	83029563	3	4	144	1	0	0	0	0	1	0	0	0	14109	710	25	2	1208	2	SEMA3E	7	83029563	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	37341278	83029563	76109100	46	34360											
ACHE	43	broad.mit.edu	37	chr7	100491685	100491685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcagagacagggccccCgggggtcttcaggcgaatgc	16	11	2	1	rs17234982	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:100491685C>T	ENST00000302913.4	-	2	307	c.169G>A	c.(169-171)Ggg>Agg	p.G57R	ACHE_ENST00000411582.1_Missense_Mutation_p.G57R|ACHE_ENST00000428317.1_Missense_Mutation_p.G57R|ACHE_ENST00000241069.5_Missense_Mutation_p.G57R|ACHE_ENST00000412389.1_Missense_Mutation_p.G57R|ACHE_ENST00000419336.2_Missense_Mutation_p.G57R	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	57					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	ACAGGGCCCCCGGGGGTCTTC	0.701													False	0	True	7:100491685	0	T	100491685	C	T	100491685	3	4	144	1	0	0	0	0	1	0	0	0	141	652	23	1	1826	1	ACHE	7	100491685	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	17462122	100491685	58646978	47	34361											
WEE2	494551	broad.mit.edu	37	chr7	141418884	141418884	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactttagagatgtgttttaCgagaaaccaacatggcttcc	8	8	0	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:141418884C>T	ENST00000397541.2	+	4	1004	c.598C>T	c.(598-600)Cga>Tga	p.R200*	WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	200					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ATGTGTTTTACGAGAAACCAA	0.343													False	0	False	7:141418884	0	T	141418884	C	T	141418884	4	4	144	1	0	0	0	0	0	1	0	0	17429	528	19	1	612	1	WEE2	7	141418884	Nonsense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	40927199	141418884	17719779	48	34362											
FGFR1	2260	broad.mit.edu	37	chr8	38279439	38279439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacctccatctctttgtcGgtggtattaactccagcagt	8	12	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:38279439G>A	ENST00000447712.2	-	8	1898	c.957C>T	c.(955-957)acC>acT	p.T319T	FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000397108.4_Silent_p.T317T|FGFR1_ENST00000356207.5_Silent_p.T230T|FGFR1_ENST00000425967.3_Silent_p.T350T|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000326324.6_Silent_p.T228T|FGFR1_ENST00000335922.5_Silent_p.T311T|FGFR1_ENST00000397091.5_Silent_p.T317T|FGFR1_ENST00000397113.2_Silent_p.T317T|FGFR1_ENST00000532791.1_Silent_p.T319T|RP11-350N15.4_ENST00000528407.1_RNA	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	319	Ig-like C2-type 3.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TCTCTTTGTCGGTGGTATTAA	0.498		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						False	0	False	8:38279439	0	A	38279439	G	A	38279439	2	1	144	1	0	0	0	0	0	0	0	1	5903	1103	39	1		1	FGFR1	8	38279439	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		38279439	108084583	49	34363											
ZFHX4	79776	broad.mit.edu	37	chr8	77617904	77617904	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtacctcgtcctcctcggcGactgtttctgatgacacaga	10	13	1	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:77617904G>A	ENST00000521891.2	+	2	2029	c.1581G>A	c.(1579-1581)gcG>gcA	p.A527A	ZFHX4_ENST00000455469.2_Silent_p.A527A|ZFHX4_ENST00000050961.6_Silent_p.A527A|ZFHX4_ENST00000518282.1_Silent_p.A527A|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	527						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCCTCGGCGACTGTTTCTG	0.433										HNSCC(33;0.089)			False	0	False	8:77617904	0	A	77617904	G	A	77617904	2	1	144	1	0	0	0	0	0	0	0	1	17718	1045	37	1		1	ZFHX4	8	77617904	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	39338465	77617904	68746118	50	34364											
PABPC1	26986	broad.mit.edu	37	chr8	101719035	101719036	+	Splice_Site	DEL	TA	TA	-													gtctgtgttgatgtgttagcTaaaaaataagaacattttgt							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:101719035_101719036delTA	ENST00000318607.5	-	11	2576		c.e11-2		PABPC1_ENST00000522387.1_Splice_Site|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Splice_Site	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATGTGTTAGCTAAAAAATAAGA	0.426													False	1	True	8:101719035	0	-	101719036	TA	-	101719035	8	5	144	1	0	1	0	1	0	0	1	0	11431	1536	53	0	480	0	PABPC1	8	101719035	Splice_Site	DEL	TA	TCGA-YH-A8SY-01A-11D-A377-08	24101131	101719035	44644987	51	34365											
PLEC	5339	broad.mit.edu	37	chr8	144994097	144994097	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacagcctctcctgccgcaGggtctccacctcctccacga	9	19	2	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:144994097G>T	ENST00000322810.4	-	32	10472	c.10303C>A	c.(10303-10305)Ctg>Atg	p.L3435M	PLEC_ENST00000436759.2_Missense_Mutation_p.L3325M|PLEC_ENST00000356346.3_Missense_Mutation_p.L3284M|PLEC_ENST00000398774.2_Missense_Mutation_p.L3266M|PLEC_ENST00000345136.3_Missense_Mutation_p.L3298M|PLEC_ENST00000354958.2_Missense_Mutation_p.L3276M|PLEC_ENST00000527096.1_Missense_Mutation_p.L3321M|PLEC_ENST00000357649.2_Missense_Mutation_p.L3302M|PLEC_ENST00000354589.3_Missense_Mutation_p.L3298M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3435	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCTGCCGCAGGGTCTCCACC	0.637													False	0	True	8:144994097	0	T	144994097	G	T	144994097	3	4	144	1	0	0	0	0	1	0	0	0	12121	991	35	3	3755	3	PLEC	8	144994097	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	43275062	144994097	1369925	52	34366											
FOXD4	2298	broad.mit.edu	37	chr9	117757	117757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcgtgaggcgcttgtgCgggctttgcaggatggccat	17	9	0	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr9:117757C>T	ENST00000382500.2	-	1	660	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	121					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGCGCTTGTGCGGGCTTTGCA	0.652													False	0	True	9:117757	0	T	117757	C	T	117757	2	4	144	1	0	0	0	0	0	0	0	1	6039	755	27	1		1	FOXD4	9	117757	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08		117757	141095674	53	34367											
CD72	971	broad.mit.edu	37	chr9	35616044	35616044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttgcaaggtctccttcGtcttctgtctgtctgcctgg	9	13	5	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr9:35616044G>A	ENST00000396757.1	-	6	748	c.584C>T	c.(583-585)aCg>aTg	p.T195M	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.T195M			P21854	CD72_HUMAN	CD72 molecule	195					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCTCCTTCGTCTTCTGTCT	0.577													False	0	False	9:35616044	0	A	35616044	G	A	35616044	3	1	144	1	0	0	0	0	1	0	0	0	3057	1145	40	1	511	1	CD72	9	35616044	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	35498287	35616044	105597387	54	34368											
PHF19	26147	broad.mit.edu	37	chr9	123636876	123636876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaggccatctgtccaccgGcacagcacatactggccctc	8	17	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr9:123636876G>A	ENST00000373896.3	-	2	396	c.144C>T	c.(142-144)tgC>tgT	p.C48C	PHF19_ENST00000312189.6_Silent_p.C48C	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTCCACCGGCACAGCACAT	0.557													False	0	True	9:123636876	0	A	123636876	G	A	123636876	2	1	144	1	0	0	0	0	0	0	0	1	11898	1195	42	2		2	PHF19	9	123636876	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	88020832	123636876	17576555	55	34369											
ITIH2	3698	broad.mit.edu	37	chr10	7773950	7773950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatagagagcgttatcacGgcgacttcggtacttccact	9	11	1	1	rs150260189		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr10:7773950G>A	ENST00000358415.4	+	13	1804	c.1638G>A	c.(1636-1638)acG>acA	p.T546T	ITIH2_ENST00000379587.4_Silent_p.T535T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	546					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCGTTATCACGGCGACTTCGG	0.438													False	0	False	10:7773950	0	A	7773950	G	A	7773950	2	1	144	1	0	0	0	0	0	0	0	1	7954	1103	39	1		1	ITIH2	10	7773950	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		7773950	127760797	56	34370											
OGDHL	55753	broad.mit.edu	37	chr10	50966564	50966564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcgccagccaaacacCgggacgtcatgtgcagccag	12	15	1	0	rs149391137		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr10:50966564C>T	ENST00000374103.4	-	2	160	c.75G>A	c.(73-75)ccG>ccA	p.P25P	OGDHL_ENST00000419399.1_Silent_p.P25P|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	25					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGCCAAACACCGGGACGTCAT	0.627													False	0	True	10:50966564	0	T	50966564	C	T	50966564	2	4	144	1	0	0	0	0	0	0	0	1	10908	639	23	1		1	OGDHL	10	50966564	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	43192614	50966564	84568183	57	34371											
VWA2	340706	broad.mit.edu	37	chr10	116046089	116046089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgaggatgaggttgcgggCccagcgcgtcacgcaagggc	17	12	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr10:116046089C>T	ENST00000603594.1	+	11	1710	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	VWA2_ENST00000392982.3_Silent_p.G463G	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	463	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGGTTGCGGGCCCAGCGCGTC	0.657													False	0	True	10:116046089	0	T	116046089	C	T	116046089	2	4	144	1	0	0	0	0	0	0	0	1	17323	726	26	2		2	VWA2	10	116046089	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	65079525	116046089	19488658	58	34372											
MUC5B	727897	broad.mit.edu	37	chr11	1272055	1272055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggggaccacccacaccGccagagtgctgaccaccacc	9	20	0	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:1272055G>A	ENST00000447027.1	+	31	14012	c.13954G>A	c.(13954-13956)Gcc>Acc	p.A4652T	MUC5B_ENST00000529681.1_Missense_Mutation_p.A4649T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4649	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.A4649T(1)|p.A4604T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cacccacaccgccagagtgct	0.612													False	0	False	11:1272055	0	A	1272055	G	A	1272055	3	1	144	1	0	0	0	0	1	0	0	0	10046	1087	38	1	14076	1	MUC5B	11	1272055	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		1272055	133734461	59	34373											
OR51E1	143503	broad.mit.edu	37	chr11	4674426	4674426	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctccttctcatatctgcttAttcttaagactgtgttgggc	7	10	4	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:4674426A>T	ENST00000396952.5	+	2	1320	c.670A>T	c.(670-672)Att>Ttt	p.I224F	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATATCTGCTTATTCTTAAGAC	0.483													False	0	False	11:4674426	0	T	4674426	A	T	4674426	3	4	144	1	0	0	0	0	1	0	0	0	11162	449	16	5	672	5	OR51E1	11	4674426	Missense_Mutation	SNP	A	TCGA-YH-A8SY-01A-11D-A377-08	3402371	4674426	130332090	60	34374											
KCNC1	3746	broad.mit.edu	37	chr11	17758047	17758047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccggatggccggcctggCggcttttggcgccgctggca	16	15	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:17758047C>T	ENST00000379472.3	+	1	528	c.498C>T	c.(496-498)ggC>ggT	p.G166G	KCNC1_ENST00000265969.6_Silent_p.G166G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	166						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCCGGCCTGGCGGCTTTTGGC	0.687													False	0	False	11:17758047	0	T	17758047	C	T	17758047	2	4	144	1	0	0	0	0	0	0	0	1	8064	755	27	1		1	KCNC1	11	17758047	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	13083621	17758047	117248469	61	34375											
HIPK3	10114	broad.mit.edu	37	chr11	33373714	33373714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagccattaataaaaggacGatctgcccctggaagattaa	8	10	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:33373714G>A	ENST00000303296.4	+	16	3379	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q|HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1025					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ATAAAAGGACGATCTGCCCCT	0.378													False	0	False	11:33373714	0	A	33373714	G	A	33373714	3	1	144	1	0	0	0	0	1	0	0	0	7165	1058	37	1	3132	1	HIPK3	11	33373714	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	15615667	33373714	101632802	62	34376											
PVRL1	5818	broad.mit.edu	37	chr11	119535865	119535865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtcacccttgaaggtgtgCcggcgccgacgcagggcgac	15	13	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:119535865C>T	ENST00000264025.3	-	6	1676	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	382					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.R382R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TGAAGGTGTGCCGGCGCCGAC	0.657													False	0	False	11:119535865	0	T	119535865	C	T	119535865	2	4	144	1	0	0	0	0	0	0	0	1	12918	726	26	2		2	PVRL1	11	119535865	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	86162151	119535865	15470651	63	34377											
C1RL	51279	broad.mit.edu	37	chr12	7254566	7254566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgaggaaggctgtgtgcGgaaggtcagccgcaaactcc	14	12	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:7254566G>A	ENST00000266542.4	-	3	510	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000545337.1_Missense_Mutation_p.R140C|C1RL_ENST00000544702.1_Missense_Mutation_p.R140C	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	140	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCTGTGTGCGGAAGGTCAGC	0.622													False	0	False	12:7254566	0	A	7254566	G	A	7254566	3	1	144	1	0	0	0	0	1	0	0	0	1988	1116	39	1	1061	1	C1RL	12	7254566	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		7254566	126597329	64	34378											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	144	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	18143718	25398284	108453611	65	34379											
NR2C1	7181	broad.mit.edu	37	chr12	95451597	95451597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattttttctgttgaagcgGcacagttggaagatttttct	10	5	2	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:95451597G>A	ENST00000333003.5	-	6	932	c.602C>T	c.(601-603)gCc>gTc	p.A201V	NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V|NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	201					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGTTGAAGCGGCACAGTTGGA	0.343													False	0	False	12:95451597	0	A	95451597	G	A	95451597	3	1	144	1	0	0	0	0	1	0	0	0	10690	1203	42	2	1323	2	NR2C1	12	95451597	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	70053313	95451597	38400298	66	34380											
PTPN11	5781	broad.mit.edu	37	chr12	112926259	112926259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcagtgctggaattggCcggacagggacgttcattgt	15	10	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:112926259C>T	ENST00000351677.2	+	12	1590	c.1392C>T	c.(1390-1392)ggC>ggT	p.G464G		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	468	Substrate binding (By similarity).|Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CTGGAATTGGCCGGACAGGGA	0.443			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				False	0	False	12:112926259	0	T	112926259	C	T	112926259	2	4	144	1	0	0	0	0	0	0	0	1	12857	726	26	2		2	PTPN11	12	112926259	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	17474662	112926259	20925636	67	34381											
SPPL3	121665	broad.mit.edu	37	chr12	121221520	121221522	+	In_Frame_Del	DEL	GGA	GGA	-													tgttaaatactggcacatcgGgaggagaagaaaagcaaaag							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	GGA	GGA	-	-	GGA	GGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:121221520_121221522delGGA	ENST00000353487.2	-	5	847_849	c.344_346delTCC	c.(343-348)ctcccg>ccg	p.L115del		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	116						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGCACATCGGGAGGAGAAGAAA	0.325													False	2	True	12:121221520	0	-	121221522	GGA	-	121221520	7	5	144	1	0	1	0	1	0	0	0	0	15172	1232	43	0	836	0	SPPL3	12	121221520	In_Frame_Del	DEL	GGA	TCGA-YH-A8SY-01A-11D-A377-08	8295261	121221520	12630375	68	34382											
GPR133	283383	broad.mit.edu	37	chr12	131622750	131622750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctgcccgcacctccaaCgcgaagcccttccactcgga	8	19	1	0	rs34765022		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:131622750C>T	ENST00000261654.5	+	24	3064	c.2505C>T	c.(2503-2505)aaC>aaT	p.N835N	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Silent_p.N354N|GPR133_ENST00000376682.4_Silent_p.N521N|GPR133_ENST00000535015.1_Silent_p.N867N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	835					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N835N(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCACCTCCAACGCGAAGCCCT	0.612													False	0	False	12:131622750	0	T	131622750	C	T	131622750	2	4	144	1	0	0	0	0	0	0	0	1	6689	535	19	1		1	GPR133	12	131622750	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	10401230	131622750	2229145	69	34383											
SKA3	221150	broad.mit.edu	37	chr13	21746643	21746644	+	Splice_Site	INS	-	-	CG													agaagaatattaacatcatcINScttttatgaataaagaaagt							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr13:21746643_21746644insCG	ENST00000400018.3	-	3	235	c.166_166insCG	c.(166-168)gat>CGgat	p.D56fs	SKA3_ENST00000314759.5_Splice_Site_p.D56fs	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	56					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTAACATCATCCTTTTATGAAT	0.252													False	0	True	13:21746643	0	CG	21746644	-	CG	21746643	8	5	144	1	0	1	1	0	0	0	1	0	14435	869	30	0	1147	0	SKA3	13	21746643	Splice_Site	INS	-	TCGA-YH-A8SY-01A-11D-A377-08		21746643	93423235	70	34384											
ELF1	1997	broad.mit.edu	37	chr13	41523989	41523989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggctcccggtgagtctGcatatttttcttgcacctgc	10	11	2	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr13:41523989G>A	ENST00000239882.3	-	5	796	c.482C>T	c.(481-483)gCa>gTa	p.A161V	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.A137V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	161					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CGGTGAGTCTGCATATTTTTC	0.473													False	0	False	13:41523989	0	A	41523989	G	A	41523989	3	1	144	1	0	0	0	0	1	0	0	0	5085	1319	46	2	1397	2	ELF1	13	41523989	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	19777346	41523989	73645889	71	34385											
PCDH8	5100	broad.mit.edu	37	chr13	53420520	53420520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggagcgccctgaacacGcgaccgggtggctcctgcga	14	15	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr13:53420520G>A	ENST00000377942.3	-	1	2255	c.2052C>T	c.(2050-2052)cgC>cgT	p.R684R	PCDH8_ENST00000338862.4_Silent_p.R684R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	684	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCCTGAACACGCGACCGGGTG	0.706													False	0	False	13:53420520	0	A	53420520	G	A	53420520	2	1	144	1	0	0	0	0	0	0	0	1	11585	1074	38	1		1	PCDH8	13	53420520	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	11896531	53420520	61749358	72	34386											
PCDH17	27253	broad.mit.edu	37	chr13	58208913	58208913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacttacaactgccgcatcGccgagtacagccacccgcag	9	17	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr13:58208913G>A	ENST00000377918.3	+	1	2259	c.2233G>A	c.(2233-2235)Gcc>Acc	p.A745T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	745					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGCCGCATCGCCGAGTACAG	0.547													False	0	False	13:58208913	0	A	58208913	G	A	58208913	3	1	144	1	0	0	0	0	1	0	0	0	11580	1087	38	1	2235	1	PCDH17	13	58208913	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	4788393	58208913	56960965	73	34387											
RYR3	6263	broad.mit.edu	37	chr15	34040439	34040439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcgggaaaatgagaagcttcGaagtgtgtcccaggccaacc	13	10	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:34040439G>T	ENST00000389232.4	+	54	8184	c.8114G>T	c.(8113-8115)cGa>cTa	p.R2705L	RYR3_ENST00000415757.3_Missense_Mutation_p.R2705L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2705	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2705Q(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGAAGCTTCGAAGTGTGTCC	0.577													False	0	False	15:34040439	0	T	34040439	G	T	34040439	3	4	144	1	0	0	0	0	1	0	0	0	13849	1058	37	3	8328	3	RYR3	15	34040439	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		34040439	68490953	74	34388											
CHST14	113189	broad.mit.edu	37	chr15	40764233	40764233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggatgaggaccctgagcGcatgaatgagcattggatgc	16	7	0	4			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:40764233G>A	ENST00000306243.5	+	1	1074	c.821G>A	c.(820-822)cGc>cAc	p.R274H	CHST14_ENST00000559991.1_Missense_Mutation_p.R249H	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	274					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GACCCTGAGCGCATGAATGAG	0.587													False	0	False	15:40764233	0	A	40764233	G	A	40764233	3	1	144	1	0	0	0	0	1	0	0	0	3425	1087	38	1	823	1	CHST14	15	40764233	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	6723794	40764233	61767159	75	34389											
CAPN3	825	broad.mit.edu	37	chr15	42695097	42695097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggtgtcccagcgcttcCgcctgcctcccagcgagtac	13	16	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:42695097C>T	ENST00000397163.3	+	13	1861	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	CAPN3_ENST00000397200.4_Missense_Mutation_p.R36C|CAPN3_ENST00000357568.3_Missense_Mutation_p.R548C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.R461C|CAPN3_ENST00000349748.3_Missense_Mutation_p.R500C|CAPN3_ENST00000318023.7_Missense_Mutation_p.R548C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	548	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCAGCGCTTCCGCCTGCCTCC	0.592													False	0	True	15:42695097	0	T	42695097	C	T	42695097	3	4	144	1	0	0	0	0	1	0	0	0	2648	652	23	1	1744	1	CAPN3	15	42695097	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	1930864	42695097	59836295	76	34390											
GLCE	26035	broad.mit.edu	37	chr15	69553616	69553616	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaagggctgctttatggcGaatgtggctgataagtctag	13	7	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:69553616G>A	ENST00000261858.2	+	4	1005	c.777G>A	c.(775-777)gcG>gcA	p.A259A	GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Silent_p.A195A	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	259					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GCTTTATGGCGAATGTGGCTG	0.393													False	0	False	15:69553616	0	A	69553616	G	A	69553616	2	1	144	1	0	0	0	0	0	0	0	1	6477	1045	37	1		1	GLCE	15	69553616	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	26858519	69553616	32977776	77	34391											
CASKIN1	57524	broad.mit.edu	37	chr16	2228602	2228602	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtcgtcgaacatgctgccGatgtcgtccaggatgctgcc	13	12	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:2228602G>A	ENST00000343516.6	-	20	4337	c.4245C>T	c.(4243-4245)atC>atT	p.I1415I		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1415					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ACATGCTGCCGATGTCGTCCA	0.741													False	0	False	16:2228602	0	A	2228602	G	A	2228602	2	1	144	1	0	0	0	0	0	0	0	1	2686	1048	37	1		1	CASKIN1	16	2228602	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		2228602	88126151	78	34392											
CREBBP	1387	broad.mit.edu	37	chr16	3823809	3823809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacactcatcgccccgctGgatgacgggaactggttctg	11	15	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:3823809G>A	ENST00000262367.5	-	13	3215	c.2406C>T	c.(2404-2406)tcC>tcT	p.S802S	CREBBP_ENST00000382070.3_Silent_p.S764S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	802					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGCCCCGCTGGATGACGGGA	0.607			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						False	0	False	16:3823809	0	A	3823809	G	A	3823809	2	1	144	1	0	0	0	0	0	0	0	1	3884	1335	47	2		2	CREBBP	16	3823809	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	1595207	3823809	86530944	79	34393											
GPT2	84706	broad.mit.edu	37	chr16	46943627	46943627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcctcgtctccgggggcgGcaagtcacggacaggtgtga	16	11	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:46943627G>A	ENST00000440783.2	+	6	973	c.308G>A	c.(307-309)gGc>gAc	p.G103D	GPT2_ENST00000340124.4_Missense_Mutation_p.G203D	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	203					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCCGGGGGCGGCAAGTCACGG	0.537													False	0	False	16:46943627	0	A	46943627	G	A	46943627	3	1	144	1	0	0	0	0	1	0	0	0	6785	1203	42	2	626	2	GPT2	16	46943627	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	43119818	46943627	43411126	80	34394											
CIRH1A	84916	broad.mit.edu	37	chr16	69197063	69197063	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aataccaacaaccttgtcatCgctcattcggaccagcaggt	7	13	2	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:69197063C>T	ENST00000563094.1	+	14	1663	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	CIRH1A_ENST00000352319.4_Silent_p.I428I|CIRH1A_ENST00000314423.7_Silent_p.I543I			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	543						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ACCTTGTCATCGCTCATTCGG	0.498													False	0	False	16:69197063	0	T	69197063	C	T	69197063	2	4	144	1	0	0	0	0	0	0	0	1	3457	874	31	1		1	CIRH1A	16	69197063	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	22253436	69197063	21157690	81	34395											
MTSS1L	92154	broad.mit.edu	37	chr16	70713713	70713713	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtggtccttgtccagctGgttggccgccttcttccagt	12	14	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:70713713G>A	ENST00000338779.6	-	5	632	c.358C>T	c.(358-360)Cag>Tag	p.Q120*		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	120	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TTGTCCAGCTGGTTGGCCGCC	0.697													False	0	False	16:70713713	0	A	70713713	G	A	70713713	4	1	144	1	0	0	0	0	0	1	0	0	10030	1357	47	2	1929	2	MTSS1L	16	70713713	Nonsense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	1516650	70713713	19641040	82	34396											
ANKRD11	29123	broad.mit.edu	37	chr16	89347349	89347349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacaacggcagccggtggGcagtgcaaagcgtcgacttt	15	10	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:89347349G>A	ENST00000301030.4	-	9	6061	c.5601C>T	c.(5599-5601)tgC>tgT	p.C1867C	ANKRD11_ENST00000378330.2_Silent_p.C1867C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1867	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGCCGGTGGGCAGTGCAAAG	0.622													False	0	True	16:89347349	0	A	89347349	G	A	89347349	2	1	144	1	0	0	0	0	0	0	0	1	639	1195	42	2		2	ANKRD11	16	89347349	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	18633636	89347349	1007404	83	34397											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			False	0	False	17:7578406	0	T	7578406	C	T	7578406	3	4	144	1	0	0	0	0	1	0	0	0	16464	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08		7578406	73616804	84	34398											
HOXB5	3215	broad.mit.edu	37	chr17	46670813	46670813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggggctcctgggcgggcgCggggaaggcgcgcgagctct	22	12	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr17:46670813C>T	ENST00000239151.5	-	1	510	c.232G>A	c.(232-234)Gcg>Acg	p.A78T	HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	78						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						TGGGCGGGCGCGGGGAAGGCG	0.687													False	0	True	17:46670813	0	T	46670813	C	T	46670813	3	4	144	1	0	0	0	0	1	0	0	0	7351	768	27	1	585	1	HOXB5	17	46670813	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	39092407	46670813	34524397	85	34399											
POTEC	388468	broad.mit.edu	37	chr18	14513663	14513663	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgactaaagaaaatacctCagaattcattttcttttcag	4	7	4	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr18:14513663C>T	ENST00000358970.5	-	10	1530	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	511								p.E511K(3)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAAAATACCTCAGAATTCATT	0.269													False	0	False	18:14513663	0	T	14513663	C	T	14513663	3	4	144	1	0	0	0	0	1	0	0	0	12331	835	29	2	105	2	POTEC	18	14513663	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08		14513663	63563585	86	34400											
MALT1	10892	broad.mit.edu	37	chr18	56409220	56409220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctgaatctcttgtgcGgaatctacagtgggccaagg	12	9	3	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr18:56409220G>A	ENST00000348428.3	+	14	1985	c.1727G>A	c.(1726-1728)cGg>cAg	p.R576Q	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.R565Q	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	576					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TCTCTTGTGCGGAATCTACAG	0.378			T	BIRC3	MALT								False	0	False	18:56409220	0	A	56409220	G	A	56409220	3	1	144	1	0	0	0	0	1	0	0	0	9269	1116	39	1	1781	1	MALT1	18	56409220	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	41895557	56409220	21668028	87	34401											
ATP1A3	478	broad.mit.edu	37	chr19	42471441	42471441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagtttgcggatttcgtcGtagacgaagatgaggaaact	13	5	0	4			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr19:42471441G>A	ENST00000545399.1	-	22	3165	c.3012C>T	c.(3010-3012)taC>taT	p.Y1004Y	ATP1A3_ENST00000543770.1_Silent_p.Y1002Y|ATP1A3_ENST00000302102.5_Silent_p.Y991Y|ATP1A3_ENST00000602133.1_Silent_p.Y961Y	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	991					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGATTTCGTCGTAGACGAAGA	0.652													False	0	False	19:42471441	0	A	42471441	G	A	42471441	2	1	144	1	0	0	0	0	0	0	0	1	1134	1140	40	1		1	ATP1A3	19	42471441	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		42471441	16657542	88	34402											
FPR3	2359	broad.mit.edu	37	chr19	52327921	52327921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctacgtctttatgggtcGtaacttccaagaaagactga	8	9	2	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr19:52327921G>A	ENST00000339223.4	+	2	1099	c.920G>A	c.(919-921)cGt>cAt	p.R307H	FPR3_ENST00000595991.1_Missense_Mutation_p.R307H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	307					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTTATGGGTCGTAACTTCCAA	0.473													False	0	False	19:52327921	0	A	52327921	G	A	52327921	3	1	144	1	0	0	0	0	1	0	0	0	6082	1145	40	1	922	1	FPR3	19	52327921	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	9856480	52327921	6801062	89	34403											
NINL	22981	broad.mit.edu	37	chr20	25442226	25442226	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcaggctctgatgttcctGattcaggcattcaagttcaa	9	10	4	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr20:25442226G>A	ENST00000278886.6	-	21	3701	c.3628C>T	c.(3628-3630)Cag>Tag	p.Q1210*	NINL_ENST00000422516.1_Nonsense_Mutation_p.Q861*	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1210					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGATGTTCCTGATTCAGGCAT	0.468													False	0	False	20:25442226	0	A	25442226	G	A	25442226	4	1	144	1	0	0	0	0	0	1	0	0	10488	1299	45	2	536	2	NINL	20	25442226	Nonsense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		25442226	37583294	90	34404											
MC3R	4159	broad.mit.edu	37	chr20	54824819	54824819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccggagcctggaattgcGcaacacctttagggagattc	11	10	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr20:54824819G>A	ENST00000243911.2	+	1	1032	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGGAATTGCGCAACACCTTT	0.517													False	0	False	20:54824819	0	A	54824819	G	A	54824819	3	1	144	1	0	0	0	0	1	0	0	0	9432	1087	38	1	922	1	MC3R	20	54824819	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	29382593	54824819	8200701	91	34405											
KRTAP8-1	0	broad.mit.edu	37	chr21	32185365	32185365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcagtagagagcaaatggCgagtatctcctgtagccgaa	11	8	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr21:32185365C>T	ENST00000329621.4	-	1	205	c.174G>A	c.(172-174)tcG>tcA	p.S58S		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	58						intermediate filament				central_nervous_system(1)|large_intestine(1)|lung(4)	6						GAGCAAATGGCGAGTATCTCC	0.562													False	0	False	21:32185365	0	T	32185365	C	T	32185365	2	4	144	1	0	0	0	0	0	0	0	1	8623	755	27	1		1	KRTAP8-1	21	32185365	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08		32185365	15944530	92	34406											
KRTAP11-1	0	broad.mit.edu	37	chr21	32253572	32253572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgagcaggggttggaaataCaggtagtttgtcgagagcaa	15	4	0	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr21:32253572C>A	ENST00000332378.4	-	1	302	c.272G>T	c.(271-273)tGt>tTt	p.C91F		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	91						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GTTGGAAATACAGGTAGTTTG	0.567													False	0	False	21:32253572	0	A	32253572	C	A	32253572	3	1	144	1	0	0	0	0	1	0	0	0	8567	478	17	3	223	3	KRTAP11-1	21	32253572	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	68207	32253572	15876323	93	34407											
DOPEY2	9980	broad.mit.edu	37	chr21	37603002	37603002	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcgccaactttgccagcaaGaacatttttggagtacagct	8	10	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr21:37603002G>T	ENST00000399151.3	+	14	2005	c.1920G>T	c.(1918-1920)aaG>aaT	p.K640N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	640					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGCCAGCAAGAACATTTTTG	0.547													False	0	False	21:37603002	0	T	37603002	G	T	37603002	3	4	144	1	0	0	0	0	1	0	0	0	4738	933	33	3	1970	3	DOPEY2	21	37603002	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	5349430	37603002	10526893	94	34408											
SLC5A1	6523	broad.mit.edu	37	chr22	32482250	32482250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaatgtgagaaatattgCggtaccaaggttggctgtac	12	6	1	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr22:32482250C>T	ENST00000266088.4	+	10	1315	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	SLC5A1_ENST00000543737.1_Silent_p.C228C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	355					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AGAAATATTGCGGTACCAAGG	0.468													False	0	False	22:32482250	0	T	32482250	C	T	32482250	2	4	144	1	0	0	0	0	0	0	0	1	14741	776	27	1		1	SLC5A1	22	32482250	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08		32482250	18822316	95	34409											
FRMPD4	9758	broad.mit.edu	37	chrX	12516909	12516909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgagatgggcgagactactTcatcaagtaggttaaacaga	11	8	2	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:12516909T>C	ENST00000380682.1	+	2	658	c.152T>C	c.(151-153)tTc>tCc	p.F51S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	51	WW.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGAGACTACTTCATCAAGTAG	0.488													False	0	False	X:12516909	0	C	12516909	T	C	12516909	3	2	144	1	0	0	0	0	1	0	0	0	6101	1783	62	4	158	4	FRMPD4	23	12516909	Missense_Mutation	SNP	T	TCGA-YH-A8SY-01A-11D-A377-08		12516909	142753651	96	34410											
AMOT	154796	broad.mit.edu	37	chrX	112048243	112048243	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcggatttcgatgtgtcGtctttggtcctcattggtag	11	8	3	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:112048243G>A	ENST00000371959.3	-	5	1707	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000524145.1_Nonsense_Mutation_p.R570*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.R161*	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	570					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCGATGTGTCGTCTTTGGTCC	0.512													False	0	False	X:112048243	0	A	112048243	G	A	112048243	4	1	144	1	0	0	0	0	0	1	0	0	582	1153	40	1	1574	1	AMOT	23	112048243	Nonsense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	99531334	112048243	43222317	97	34411											
NKRF	55922	broad.mit.edu	37	chrX	118725258	118725258	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttggaaccggcttgcttttTaggaggattttgacctatag	11	6	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:118725258T>A	ENST00000371527.1	-	2	782	c.130A>T	c.(130-132)Aaa>Taa	p.K44*	NKRF_ENST00000304449.5_Nonsense_Mutation_p.K44*|NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000542113.1_Nonsense_Mutation_p.K59*	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	44	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GCTTGCTTTTTAGGAGGATTT	0.353													False	0	True	X:118725258	0	A	118725258	T	A	118725258	4	1	144	1	0	0	0	0	0	1	0	0	10515	1763	61	5	1946	5	NKRF	23	118725258	Nonsense_Mutation	SNP	T	TCGA-YH-A8SY-01A-11D-A377-08	6677015	118725258	36545302	98	34412											
TFDP3	51270	broad.mit.edu	37	chrX	132351883	132351883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacttggcgaccagctcGcccaccacttcctggcagga	10	16	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:132351883G>A	ENST00000310125.4	-	1	493	c.405C>T	c.(403-405)ggC>ggT	p.G135G		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	135						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.G135G(1)|p.G75G(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CGACCAGCTCGCCCACCACTT	0.552													False	0	True	X:132351883	0	A	132351883	G	A	132351883	2	1	144	1	0	0	0	0	0	0	0	1	15881	1074	38	1		1	TFDP3	23	132351883	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	13626625	132351883	22918677	99	34413											
RBMX	27316	broad.mit.edu	37	chrX	135958816	135958817	+	Splice_Site	DEL	TG	TG	-													atggaatatccaccgtcatcTgcatcaaaaatagaaaagaa							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:135958816_135958817delTG	ENST00000562646.1	-	5	543		c.e5-2		RBMX_ENST00000570135.1_Splice_Site|RBMX_ENST00000565438.1_Splice_Site|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000320676.7_Splice_Site			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked							catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCGTCATCTGCATCAAAAAT	0.396													False	1	False	X:135958816	0	-	135958817	TG	-	135958816	8	5	144	1	0	1	0	1	0	0	1	0	13230	1594	55	0	863	0	RBMX	23	135958816	Splice_Site	DEL	TG	TCGA-YH-A8SY-01A-11D-A377-08	3606933	135958816	19311744	100	34414											
DUSP9	1852	broad.mit.edu	37	chrX	152915638	152915638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactttgagcgcagcttgCggctggaggagcgccactcg	16	11	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:152915638C>T	ENST00000342782.3	+	4	1298	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	DUSP9_ENST00000370167.4_Missense_Mutation_p.R345W			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	345	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCAGCTTGCGGCTGGAGGA	0.612													False	0	False	X:152915638	0	T	152915638	C	T	152915638	3	4	144	1	0	0	0	0	1	0	0	0	4862	759	27	1	1043	1	DUSP9	23	152915638	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	16956822	152915638	2354922	101	34415											
FLNA	0	broad.mit.edu	37	chrX	153593084	153593084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgatggcccttccaccgagAagcctgacaacagccaccag	10	16	0	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:153593084A>G	ENST00000422373.1	-	13	2080	c.1832T>C	c.(1831-1833)tTc>tCc	p.F611S	FLNA_ENST00000344736.4_Missense_Mutation_p.F611S|FLNA_ENST00000360319.4_Missense_Mutation_p.F611S|FLNA_ENST00000369850.3_Missense_Mutation_p.F611S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	611					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCACCGAGAAGCCTGACAA	0.642													False	0	False	X:153593084	0	G	153593084	A	G	153593084	3	3	144	1	0	0	0	0	1	0	0	0	5973	246	9	4	6255	4	FLNA	23	153593084	Missense_Mutation	SNP	A	TCGA-YH-A8SY-01A-11D-A377-08	677446	153593084	1677476	102	34416											
CLCNKA	0	broad.mit.edu	37	chr1	16353850	16353850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcccacttctctgtccGggattactggaggggcttct	11	12	3	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:16353850G>A	ENST00000375692.1	+	9	829	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.R234Q|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R191Q|CLCNKA_ENST00000331433.4_Missense_Mutation_p.R234Q			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	234					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TTCTCTGTCCGGGATTACTGG	0.637													False	0	True	1:16353850	0	A	16353850	G	A	16353850	3	1	145	1	0	0	0	0	1	0	0	0	3492	1116	39	1	727	1	CLCNKA	1	16353850	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		16353850	232896771	1	34417											
ARID1A	8289	broad.mit.edu	37	chr1	27099950	27099950	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggcgatgggaccacgaCagcactatccctatggaggt	13	10	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:27099950C>T	ENST00000324856.7	+	15	4200	c.3829C>T	c.(3829-3831)Cag>Tag	p.Q1277*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q894*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1277*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1277					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1274fs*7(2)|p.M1273fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGGACCACGACAGCACTATCC	0.602			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								False	0	False	1:27099950	0	T	27099950	C	T	27099950	4	4	145	1	0	0	0	0	0	1	0	0	915	479	17	2	3887	2	ARID1A	1	27099950	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	10746100	27099950	222150671	2	34418											
MAST2	23139	broad.mit.edu	37	chr1	46493452	46493452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcacggactttggactgTccaaaattggcctcatgagt	10	10	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:46493452T>C	ENST00000361297.2	+	17	2252	c.1969T>C	c.(1969-1971)Tcc>Ccc	p.S657P	MAST2_ENST00000372009.2_Missense_Mutation_p.S587P	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	657	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTTTGGACTGTCCAAAATTGG	0.443													False	0	False	1:46493452	0	C	46493452	T	C	46493452	3	2	145	1	0	0	0	0	1	0	0	0	9392	1667	58	4	2035	4	MAST2	1	46493452	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	19393502	46493452	202757169	3	34419											
BSND	7809	broad.mit.edu	37	chr1	55470697	55470697	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctctcctttgcttgcagatCaccttcgtccctgctgactc	6	16	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:55470697C>T	ENST00000371265.4	+	2	434	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	60						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GCTTGCAGATCACCTTCGTCC	0.577													False	0	False	1:55470697	0	T	55470697	C	T	55470697	2	4	145	1	0	0	0	0	0	0	0	1	1538	816	29	2		2	BSND	1	55470697	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	8977245	55470697	193779924	4	34420											
COL11A1	1301	broad.mit.edu	37	chr1	103427802	103427802	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtccatctttccctgagataCcttgaggacctggatcaccc	8	14	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:103427802C>G	ENST00000358392.2	-	40	3397	c.3080G>C	c.(3079-3081)gGt>gCt	p.G1027A	COL11A1_ENST00000353414.4_Missense_Mutation_p.G976A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G899A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1015A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1015	Triple-helical region.		G -> R (in STL2).		collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCTGAGATACCTTGAGGACC	0.383													False	0	False	1:103427802	0	G	103427802	C	G	103427802	3	3	145	1	0	0	0	0	1	0	0	0	3690	507	18	5	2488	5	COL11A1	1	103427802	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	47957105	103427802	145822819	5	34421											
CSDE1	7812	broad.mit.edu	37	chr1	115276409	115276409	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacagttccttcaaaatgttCaatgctgatatcttcaaaaa	4	8	4	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:115276409C>A	ENST00000438362.2	-	9	1297	c.919G>T	c.(919-921)Gaa>Taa	p.E307*	CSDE1_ENST00000339438.6_Nonsense_Mutation_p.E230*|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.E261*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.E131*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.E276*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.E230*|CSDE1_ENST00000358528.4_Nonsense_Mutation_p.E261*	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	261	CSD 4; truncated.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAAATGTTCAATGCTGATA	0.403													False	0	False	1:115276409	0	A	115276409	C	A	115276409	4	1	145	1	0	0	0	0	0	1	0	0	3954	835	29	3	1663	3	CSDE1	1	115276409	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	11848607	115276409	133974212	6	34422											
PSMB4	5692	broad.mit.edu	37	chr1	151372581	151372581	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacatctctcgcattatgCgagtcaacaacagtaccatg	7	12	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:151372581C>T	ENST00000290541.6	+	2	319	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCGCATTATGCGAGTCAACAA	0.537													False	0	False	1:151372581	0	T	151372581	C	T	151372581	4	4	145	1	0	0	0	0	0	1	0	0	12755	760	27	1	271	1	PSMB4	1	151372581	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	36096172	151372581	97878040	7	34423											
LCE2A	353139	broad.mit.edu	37	chr1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-													gtctcttcctgctgtggtccCagctctgggggctgctgcgg					rs142857579		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661													False	1	False	1:152671515	0	-	152671556	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	152671515	7	5	145	1	0	1	0	1	0	0	0	0	8716	581	21	0	140	0	LCE2A	1	152671515	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	TCGA-YY-A8LH-01A-11D-A36O-08	1298934	152671515	96579106	8	34424											
GATAD2B	57459	broad.mit.edu	37	chr1	153789912	153789912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaaggccaggcttaggcGggccccgctgaccctgtagc	14	14	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:153789912G>A	ENST00000368655.4	-	6	1079	c.836C>T	c.(835-837)cCg>cTg	p.P279L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	279						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGCTTAGGCGGGCCCCGCTG	0.527													False	0	True	1:153789912	0	A	153789912	G	A	153789912	3	1	145	1	0	0	0	0	1	0	0	0	6304	1116	39	1	969	1	GATAD2B	1	153789912	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	1118397	153789912	95460709	9	34425											
ADAR	103	broad.mit.edu	37	chr1	154569625	154569625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagaagccatggagttggTcgcctccccatgcagggcct	12	13	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:154569625T>C	ENST00000368474.4	-	5	2252	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A	ADAR_ENST00000368471.3_Missense_Mutation_p.T390A|ADAR_ENST00000292205.5_Missense_Mutation_p.T728A	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	685					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATGGAGTTGGTCGCCTCCCCA	0.522													False	0	False	1:154569625	0	C	154569625	T	C	154569625	3	2	145	1	0	0	0	0	1	0	0	0	281	1667	58	4	1671	4	ADAR	1	154569625	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	779713	154569625	94680996	10	34426											
INSRR	3645	broad.mit.edu	37	chr1	156824033	156824033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtggccctccaccaCgctgcagttctccagctgac	10	17	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:156824033C>T	ENST00000368195.3	-	2	544	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	50					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCTCCACCACGCTGCAGTTC	0.627													False	0	False	1:156824033	0	T	156824033	C	T	156824033	3	4	145	1	0	0	0	0	1	0	0	0	7824	536	19	1	3828	1	INSRR	1	156824033	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	2254408	156824033	92426588	11	34427											
F5	2153	broad.mit.edu	37	chr1	169519117	169519117	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccagaggcgatgtctctcatGatgtccacgtcactgtagta	10	11	3	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:169519117G>C	ENST00000367796.3	-	10	1734	c.1533C>G	c.(1531-1533)atC>atG	p.I511M	F5_ENST00000367797.3_Missense_Mutation_p.I511M|F5_ENST00000546081.1_3'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	511	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTCTCTCATGATGTCCACGT	0.433													False	0	False	1:169519117	0	C	169519117	G	C	169519117	3	2	145	1	0	0	0	0	1	0	0	0	5381	1280	45	5	5205	5	F5	1	169519117	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	12695084	169519117	79731504	12	34428											
MRPS14	63931	broad.mit.edu	37	chr1	174983906	174983906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcttcacaccacgcggacGggacgtcataacacaccgat	9	16	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:174983906G>A	ENST00000476371.1	-	3	302	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1	O60783	RT14_HUMAN	mitochondrial ribosomal protein S14	96					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	p.R96S(1)		large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						CCACGCGGACGGGACGTCATA	0.522													False	0	True	1:174983906	0	A	174983906	G	A	174983906	3	1	145	1	0	0	0	0	1	0	0	0	9891	1116	39	1	104	1	MRPS14	1	174983906	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	5464789	174983906	74266715	13	34429											
CFHR1	3078	broad.mit.edu	37	chr1	196797211	196797211	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctactcagacacttcctgtGtgaatccgcccacagtacaa	6	14	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:196797211G>T	ENST00000320493.5	+	4	530	c.442G>T	c.(442-444)Gtg>Ttg	p.V148L	CFHR1_ENST00000367424.4_Intron|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	148	Sushi 3.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CACTTCCTGTGTGAATCCGCC	0.383													False	0	True	1:196797211	0	T	196797211	G	T	196797211	3	4	145	1	0	0	0	0	1	0	0	0	3307	1377	48	3	456	3	CFHR1	1	196797211	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	21813305	196797211	52453410	14	34430											
CR1	1378	broad.mit.edu	37	chr1	207785308	207785308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgtgatgacttcctggGccaactccctcatggccgtg	10	14	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:207785308G>A	ENST00000367049.4	+	39	6497	c.6497G>A	c.(6496-6498)gGc>gAc	p.G2166D	CR1_ENST00000400960.2_Missense_Mutation_p.G1716D|CR1_ENST00000367051.1_Missense_Mutation_p.G1716D|CR1_ENST00000367052.1_Missense_Mutation_p.G1716D|CR1_ENST00000367053.1_Missense_Mutation_p.G1716D	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1716					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACTTCCTGGGCCAACTCCCT	0.488													False	0	True	1:207785308	0	A	207785308	G	A	207785308	3	1	145	1	0	0	0	0	1	0	0	0	3863	1203	42	2	6651	2	CR1	1	207785308	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	10988097	207785308	41465313	15	34431											
ANGEL2	90806	broad.mit.edu	37	chr1	213178772	213178772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcaggtttccttcctgtcCgcatcttatattcacagtga	6	12	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:213178772C>A	ENST00000366962.3	-	5	891	c.737G>T	c.(736-738)cGg>cTg	p.R246L	ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120L|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77L	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	246								p.R246L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CCTTCCTGTCCGCATCTTATA	0.363													False	0	False	1:213178772	0	A	213178772	C	A	213178772	3	1	145	1	0	0	0	0	1	0	0	0	609	652	23	3	917	3	ANGEL2	1	213178772	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	5393464	213178772	36071849	16	34432											
RPS6KC1	26750	broad.mit.edu	37	chr1	213415604	213415604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagagggaattgtgtgccgcGatttgaacccaaacaacatc	11	9	0	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:213415604G>T	ENST00000366960.3	+	11	2935	c.2785G>T	c.(2785-2787)Gat>Tat	p.D929Y	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D717Y|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D632Y|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D917Y|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	929	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGTGTGCCGCGATTTGAACCC	0.438													False	0	False	1:213415604	0	T	213415604	G	T	213415604	3	4	145	1	0	0	0	0	1	0	0	0	13737	1058	37	3	2827	3	RPS6KC1	1	213415604	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	236832	213415604	35835017	17	34433											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220364491	220364491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaattccccttcttggcGcatagatcacaaggaattga	7	10	2	2	rs151225064		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:220364491G>A	ENST00000358951.2	-	14	1522	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	469					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.A469V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTCTTGGCGCATAGATCAC	0.493													False	0	False	1:220364491	0	A	220364491	G	A	220364491	3	1	145	1	0	0	0	0	1	0	0	0	13015	1087	38	1	2863	1	RAB3GAP2	1	220364491	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	6948887	220364491	28886130	18	34434											
TRIM67	440730	broad.mit.edu	37	chr1	231339749	231339749	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgacggtgccgggggAcagttccgggtgaggccttg	19	10	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:231339749A>G	ENST00000444294.3	+	6	2523	c.1665A>G	c.(1663-1665)ggA>ggG	p.G555G	TRIM67_ENST00000366653.5_Silent_p.G557G|TRIM67_ENST00000366652.2_Silent_p.G557G|TRIM67_ENST00000449018.3_Silent_p.G495G	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	557	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTGCCGGGGGACAGTTCCGGG	0.637													False	0	True	1:231339749	0	G	231339749	A	G	231339749	2	3	145	1	0	0	0	0	0	0	0	1	16623	262	10	4		4	TRIM67	1	231339749	Silent	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	10975258	231339749	17910872	19	34435											
MAP4K3	8491	broad.mit.edu	37	chr2	39492429	39492429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacataggtatttatggCccgtgtaaggatttcttact	8	9	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:39492429C>T	ENST00000263881.3	-	28	2375	c.2051G>A	c.(2050-2052)gGc>gAc	p.G684D	MAP4K3_ENST00000437545.1_Missense_Mutation_p.G600D|MAP4K3_ENST00000341681.5_Missense_Mutation_p.G663D|MAP4K3_ENST00000536018.1_Missense_Mutation_p.G237D	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	684	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTATTTATGGCCCGTGTAAGG	0.313													False	0	True	2:39492429	0	T	39492429	C	T	39492429	3	4	145	1	0	0	0	0	1	0	0	0	9328	739	26	2	661	2	MAP4K3	2	39492429	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08		39492429	203706944	20	34436											
VAX2	25806	broad.mit.edu	37	chr2	71148347	71148347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggagatggagttccagCgctgccagtatgtggtgggc	17	9	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:71148347C>T	ENST00000234392.2	+	2	399	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	123					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R123S(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GGAGTTCCAGCGCTGCCAGTA	0.637													False	0	False	2:71148347	0	T	71148347	C	T	71148347	3	4	145	1	0	0	0	0	1	0	0	0	17219	768	27	1	373	1	VAX2	2	71148347	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	31655918	71148347	172051026	21	34437											
SEMA4C	54910	broad.mit.edu	37	chr2	97527586	97527586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacttcatgcagtcggccaCgggcagctgcaccagctgag	12	13	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:97527586C>T	ENST00000305476.5	-	13	1621	c.1489G>A	c.(1489-1491)Gtg>Atg	p.V497M		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	497	Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CAGTCGGCCACGGGCAGCTGC	0.682													False	0	True	2:97527586	0	T	97527586	C	T	97527586	3	4	145	1	0	0	0	0	1	0	0	0	14114	536	19	1	1024	1	SEMA4C	2	97527586	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	26379239	97527586	145671787	22	34438											
ANKRD36	375248	broad.mit.edu	37	chr2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-													gaaacaaccagctgagaaggTaattaaagtctcatttatat							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314													False	1	False	2:97847365	0	-	97847368	TAAT	-	97847365	8	5	145	1	0	1	0	1	0	0	1	0	665	1652	57	0	1864	0	ANKRD36	2	97847365	Splice_Site	DEL	TAAT	TCGA-YY-A8LH-01A-11D-A36O-08	319779	97847365	145352008	23	34439											
TTN	7273	broad.mit.edu	37	chr2	179433869	179433869	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actgcaaccttcttggagctGatcgattttccaagaattct	7	10	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179433869G>T	ENST00000589042.1	-	326	77214	c.76990C>A	c.(76990-76992)Cag>Aag	p.Q25664K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q16724K|TTN_ENST00000460472.2_Missense_Mutation_p.Q16599K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q23096K|TTN_ENST00000342175.6_Missense_Mutation_p.Q16791K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q24023K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24023	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGGAGCTGATCGATTTTC	0.388													False	0	False	2:179433869	0	T	179433869	G	T	179433869	3	4	145	1	0	0	0	0	1	0	0	0	16819	1299	45	3	31137	3	TTN	2	179433869	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	81586504	179433869	63765504	24	34440											
TTN	7273	broad.mit.edu	37	chr2	179434141	179434141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatattttccactatcatatCggttgacattgtcaagaaca	5	8	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179434141C>A	ENST00000589042.1	-	326	76942	c.76718G>T	c.(76717-76719)cGa>cTa	p.R25573L	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16633L|TTN_ENST00000460472.2_Missense_Mutation_p.R16508L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23005L|TTN_ENST00000342175.6_Missense_Mutation_p.R16700L|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23932L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23932	Fibronectin type-III 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTATCATATCGGTTGACATT	0.423													False	0	False	2:179434141	0	A	179434141	C	A	179434141	3	1	145	1	0	0	0	0	1	0	0	0	16819	884	31	3	31409	3	TTN	2	179434141	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	272	179434141	63765232	25	34441											
TTN	7273	broad.mit.edu	37	chr2	179440550	179440550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggttgaggactgggcCtggcgtgtccaagactctga	15	11	1	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179440550C>T	ENST00000589042.1	-	326	70533	c.70309G>A	c.(70309-70311)Ggc>Agc	p.G23437S	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14497S|TTN_ENST00000460472.2_Missense_Mutation_p.G14372S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20869S|TTN_ENST00000342175.6_Missense_Mutation_p.G14564S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21796S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21796	Fibronectin type-III 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G14372C(1)|p.G20867C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACTGGGCCTGGCGTGTCC	0.493													False	0	False	2:179440550	0	T	179440550	C	T	179440550	3	4	145	1	0	0	0	0	1	0	0	0	16819	681	24	2	37818	2	TTN	2	179440550	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	6409	179440550	63758823	26	34442											
DNER	92737	broad.mit.edu	37	chr2	230377562	230377562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgcatcaatacagctcgCgttgttttggcaaggtttcc	9	9	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:230377562C>T	ENST00000341772.4	-	6	1218	c.1084G>A	c.(1084-1086)Gcg>Acg	p.A362T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	362	EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATACAGCTCGCGTTGTTTTGG	0.438													False	0	False	2:230377562	0	T	230377562	C	T	230377562	3	4	145	1	0	0	0	0	1	0	0	0	4697	768	27	1	1161	1	DNER	2	230377562	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	50937012	230377562	12821811	27	34443											
SLC6A1	6529	broad.mit.edu	37	chr3	11058924	11058924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacggcagcaaggtggcCgacgggcagatctccaccga	13	14	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:11058924C>T	ENST00000287766.4	+	3	448	c.27C>T	c.(25-27)gcC>gcT	p.A9A	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_5'UTR|SLC6A1_ENST00000462473.1_3'UTR	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	9					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GCAAGGTGGCCGACGGGCAGA	0.632													False	0	False	3:11058924	0	T	11058924	C	T	11058924	2	4	145	1	0	0	0	0	0	0	0	1	14753	639	23	1		1	SLC6A1	3	11058924	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08		11058924	186963506	28	34444											
LRRFIP2	9209	broad.mit.edu	37	chr3	37154441	37154441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatcagaagacctcttctTcattccatgagagtgactgt	8	9	4	5			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:37154441T>C	ENST00000421307.1	-	9	825	c.403A>G	c.(403-405)Aag>Gag	p.K135E	LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.K135E|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.K104E	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	135	DVL3-binding.|Ser-rich.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GACCTCTTCTTCATTCCATGA	0.328													False	0	False	3:37154441	0	C	37154441	T	C	37154441	3	2	145	1	0	0	0	0	1	0	0	0	9090	1792	62	4	1846	4	LRRFIP2	3	37154441	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	26095517	37154441	160867989	29	34445											
ZNF502	91392	broad.mit.edu	37	chr3	44763222	44763222	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgaatgtggctcttcttttCgaaaacactcaaatcttacg	7	9	4	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000449836.1_Silent_p.R305R|ZNF502_ENST00000436624.2_Silent_p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTCTTCTTTTCGAAAACACTC	0.408													False	0	True	3:44763222	0	A	44763222	C	A	44763222	2	1	145	1	0	0	0	0	0	0	0	1	18033	876	31	3		3	ZNF502	3	44763222	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	7608781	44763222	153259208	30	34446											
CXCR6	10663	broad.mit.edu	37	chr3	45988477	45988477	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttccttgccccaaattatCtatggcaatgtctttaatct	5	10	3	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:45988477C>A	ENST00000458629.1	+	1	1967	c.504C>A	c.(502-504)atC>atA	p.I168I	CXCR6_ENST00000438735.1_Silent_p.I168I|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Silent_p.I168I|FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Silent_p.I168I			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	168					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCAAATTATCTATGGCAATG	0.502													False	0	False	3:45988477	0	A	45988477	C	A	45988477	2	1	145	1	0	0	0	0	0	0	0	1	4120	903	32	3		3	CXCR6	3	45988477	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	1225255	45988477	152033953	31	34447											
CACNA1D	776	broad.mit.edu	37	chr3	53736723	53736723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagatttccagaagctcCgggagaagcagcagctggag	17	8	0	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:53736723C>T	ENST00000288139.4	+	9	1394	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	CACNA1D_ENST00000350061.5_Missense_Mutation_p.R426W|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R426W	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCAGAAGCTCCGGGAGAAGCA	0.512													False	0	True	3:53736723	0	T	53736723	C	T	53736723	3	4	145	1	0	0	0	0	1	0	0	0	2561	643	23	1	1418	1	CACNA1D	3	53736723	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	7748246	53736723	144285707	32	34448											
NFKBIZ	64332	broad.mit.edu	37	chr3	101576028	101576029	+	Splice_Site	INS	-	-	AAC													gtcttttgtgaatgcaaaggINStacaccagagttggaatggc					rs3217713	by1000genomes	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:101576028_101576029insAAC	ENST00000326172.5	+	10	2050		c.e10+1		NFKBIZ_ENST00000394054.2_Splice_Site|NFKBIZ_ENST00000326151.5_Splice_Site	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GAATGCAAAGGTACACCAGAGT	0.46													False	0	False	3:101576028	0	AAC	101576029	-	AAC	101576028	8	5	145	1	0	1	1	0	0	0	1	0	10451	1275	44	0	1974	0	NFKBIZ	3	101576028	Splice_Site	INS	-	TCGA-YY-A8LH-01A-11D-A36O-08	47839305	101576028	96446402	33	34449											
FBXO40	51725	broad.mit.edu	37	chr3	121340995	121340995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcagcgagctgtgagaGcaagaacaagaatgactccg	11	9	2	4			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:121340995G>A	ENST00000338040.4	+	3	1133	c.719G>A	c.(718-720)aGc>aAc	p.S240N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	240					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGCTGTGAGAGCAAGAACAAG	0.458													False	0	False	3:121340995	0	A	121340995	G	A	121340995	3	1	145	1	0	0	0	0	1	0	0	0	5789	971	34	2	725	2	FBXO40	3	121340995	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	19764967	121340995	76681435	34	34450											
OSBPL11	114885	broad.mit.edu	37	chr3	125279224	125279224	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcttatgccattacttactCttgttaaatccatgcccagc	5	12	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:125279224C>A	ENST00000296220.5	-	8	1443	c.1154G>T	c.(1153-1155)aGa>aTa	p.R385I		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	385					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATTACTTACTCTTGTTAAATC	0.383													False	0	True	3:125279224	0	A	125279224	C	A	125279224	5	1	145	1	0	0	0	0	0	0	1	0	11344	927	32	3	1113	3	OSBPL11	3	125279224	Splice_Site	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	3938229	125279224	72743206	35	34451											
ABCC5	10057	broad.mit.edu	37	chr3	183663704	183663704	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctcagatgccagtctgacCgtaaactggaacagccccgt	10	13	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:183663704C>A	ENST00000334444.6	-	24	3678	c.3438G>T	c.(3436-3438)acG>acT	p.T1146T	ABCC5_ENST00000265586.6_Silent_p.T1103T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1146	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCAGTCTGACCGTAAACTGGA	0.448													False	0	False	3:183663704	0	A	183663704	C	A	183663704	2	1	145	1	0	0	0	0	0	0	0	1	56	639	23	3		3	ABCC5	3	183663704	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	58384480	183663704	14358726	36	34452											
EHHADH	1962	broad.mit.edu	37	chr3	184910478	184910478	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtcttctggccaaatcGtcctaattcacagagcacat	6	13	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:184910478G>A	ENST00000231887.3	-	7	1783	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	EHHADH_ENST00000456310.1_Nonsense_Mutation_p.R474*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	570	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TGGCCAAATCGTCCTAATTCA	0.473													False	0	False	3:184910478	0	A	184910478	G	A	184910478	4	1	145	1	0	0	0	0	0	1	0	0	5012	1153	40	1	467	1	EHHADH	3	184910478	Nonsense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	1246774	184910478	13111952	37	34453											
ZFYVE28	57732	broad.mit.edu	37	chr4	2355738	2355738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggctgtccagctccgcGgccacctggttcagctcctc	10	18	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:2355738G>A	ENST00000290974.2	-	2	441	c.102C>T	c.(100-102)gcC>gcT	p.A34A	ZFYVE28_ENST00000515169.1_5'UTR|ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000515312.1_5'UTR|ZFYVE28_ENST00000503000.1_Silent_p.A34A|ZFYVE28_ENST00000511071.1_Silent_p.A34A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	34					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCAGCTCCGCGGCCACCTGGT	0.677													False	0	False	4:2355738	0	A	2355738	G	A	2355738	2	1	145	1	0	0	0	0	0	0	0	1	17753	1103	39	1		1	ZFYVE28	4	2355738	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		2355738	188798538	38	34454											
FAM193A	8603	broad.mit.edu	37	chr4	2691390	2691390	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcagaagtgatgaatgataAgaactggaatcctggcactt	10	6	1	5			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:2691390A>T	ENST00000324666.5	+	12	1967	c.1616A>T	c.(1615-1617)aAg>aTg	p.K539M	FAM193A_ENST00000502458.1_Missense_Mutation_p.K561M|FAM193A_ENST00000382839.3_Missense_Mutation_p.K539M|FAM193A_ENST00000545951.1_Missense_Mutation_p.K539M|FAM193A_ENST00000505311.1_Missense_Mutation_p.K539M	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	539										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATGAATGATAAGAACTGGAAT	0.353													False	0	False	4:2691390	0	T	2691390	A	T	2691390	3	4	145	1	0	0	0	0	1	0	0	0	5560	72	3	5	1654	5	FAM193A	4	2691390	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	335652	2691390	188462886	39	34455											
LYAR	55646	broad.mit.edu	37	chr4	4276258	4276258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctcctgtccctttttgCgcttcttaggcttctgattc	7	14	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:4276258C>T	ENST00000343470.4	-	7	908	c.668G>A	c.(667-669)cGc>cAc	p.R223H	LYAR_ENST00000452476.1_Missense_Mutation_p.R223H	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	223	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCTTTTTGCGCTTCTTAGG	0.483													False	0	False	4:4276258	0	T	4276258	C	T	4276258	3	4	145	1	0	0	0	0	1	0	0	0	9166	768	27	1	487	1	LYAR	4	4276258	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	1584868	4276258	186878018	40	34456											
UGDH	7358	broad.mit.edu	37	chr4	39512385	39512385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcacaattttgtacccatTtgagttttgcacaatgcgtc	7	9	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:39512385T>C	ENST00000316423.6	-	4	703	c.361A>G	c.(361-363)Aat>Gat	p.N121D	UGDH_ENST00000507089.1_Missense_Mutation_p.N24D|UGDH_ENST00000501493.2_Intron|UGDH_ENST00000506179.1_Missense_Mutation_p.N121D	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	121					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TTGTACCCATTTGAGTTTTGC	0.433													False	0	True	4:39512385	0	C	39512385	T	C	39512385	3	2	145	1	0	0	0	0	1	0	0	0	17024	1841	64	4	1159	4	UGDH	4	39512385	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	35236127	39512385	151641891	41	34457											
RBM47	54502	broad.mit.edu	37	chr4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-													tcgacacagtgggaatgacaGcggctgcggcggctgcggcc					rs141544276		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548													False	1	True	4:40434705	0	-	40434725	GCGGCTGCGGCGGCTGCGGCC	-	40434705	7	5	145	1	0	1	0	1	0	0	0	0	13220	971	34	0	284	0	RBM47	4	40434705	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	TCGA-YY-A8LH-01A-11D-A36O-08	922320	40434705	150719571	42	34458											
HERC5	51191	broad.mit.edu	37	chr4	89414249	89414249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcagagatgatccagccGgaatatgggatgttcatgta	12	6	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:89414249G>A	ENST00000264350.3	+	17	2373	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P	HERC5_ENST00000508159.1_Silent_p.P378P	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	740	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGATCCAGCCGGAATATGGGA	0.443													False	0	False	4:89414249	0	A	89414249	G	A	89414249	2	1	145	1	0	0	0	0	0	0	0	1	7108	1103	39	1		1	HERC5	4	89414249	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	48979544	89414249	101740027	43	34459											
PCDH10	57575	broad.mit.edu	37	chr4	134073128	134073128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggacgcggacgacggCgagaacgcccggctcactta	15	14	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:134073128C>T	ENST00000264360.5	+	1	2659	c.1833C>T	c.(1831-1833)ggC>ggT	p.G611G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGACGACGGCGAGAACGCCC	0.692													False	0	False	4:134073128	0	T	134073128	C	T	134073128	2	4	145	1	0	0	0	0	0	0	0	1	11575	755	27	1		1	PCDH10	4	134073128	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	44658879	134073128	57081148	44	34460											
CTNND2	1501	broad.mit.edu	37	chr5	11364949	11364949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggggactgcagggcccGcaactctgggcccaggtgcc	15	14	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:11364949G>A	ENST00000304623.8	-	8	1420	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.R74W|CTNND2_ENST00000359640.2_Missense_Mutation_p.R411W|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R320W	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	411					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCAGGGCCCGCAACTCTGGG	0.577													False	0	True	5:11364949	0	A	11364949	G	A	11364949	3	1	145	1	0	0	0	0	1	0	0	0	4045	1086	38	1	2506	1	CTNND2	5	11364949	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		11364949	169550311	45	34461											
MRPS27	23107	broad.mit.edu	37	chr5	71533926	71533926	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatagtccagtttctcAggtaccagcagttggggctg	14	8	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:71533926A>G	ENST00000261413.5	-	5	350	c.311T>C	c.(310-312)cTg>cCg	p.L104P	MRPS27_ENST00000515404.1_Missense_Mutation_p.L48P|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.L118P|MRPS27_ENST00000457646.4_Missense_Mutation_p.L48P	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	104						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CCAGTTTCTCAGGTACCAGCA	0.413													False	0	False	5:71533926	0	G	71533926	A	G	71533926	3	3	145	1	0	0	0	0	1	0	0	0	9905	188	7	4	961	4	MRPS27	5	71533926	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	60168977	71533926	109381334	46	34462											
FBN2	2201	broad.mit.edu	37	chr5	127624885	127624885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcacagcgaaaagatccgtCggtgttgatacattgaccat	9	9	1	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:127624885C>T	ENST00000508053.1	-	58	7545	c.6571G>A	c.(6571-6573)Gac>Aac	p.D2191N	FBN2_ENST00000262464.4_Missense_Mutation_p.D2191N			P35556	FBN2_HUMAN	fibrillin 2	2191	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAAGATCCGTCGGTGTTGATA	0.413													False	0	False	5:127624885	0	T	127624885	C	T	127624885	3	4	145	1	0	0	0	0	1	0	0	0	5743	884	31	1	2223	1	FBN2	5	127624885	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	56090959	127624885	53290375	47	34463											
TRPC7	57113	broad.mit.edu	37	chr5	135692940	135692940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagccgagtccaggaagcGctcctcctcgggcgtcagac	12	16	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:135692940G>A	ENST00000513104.1	-	2	418	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	TRPC7_ENST00000426057.2_Missense_Mutation_p.R46C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R46C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	46					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCAGGAAGCGCTCCTCCTCG	0.612													False	0	True	5:135692940	0	A	135692940	G	A	135692940	3	1	145	1	0	0	0	0	1	0	0	0	16667	1087	38	1	2496	1	TRPC7	5	135692940	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	8068055	135692940	45222320	48	34464											
PCDHA2	0	broad.mit.edu	37	chr5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctactcgctggtggagCggcgggtgggcgagcgcgcg	20	11	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672													False	0	False	5:140176038	0	T	140176038	C	T	140176038	3	4	145	1	0	0	0	0	1	0	0	0	11592	759	27	1	1491	1	PCDHA2	5	140176038	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	4483098	140176038	40739222	49	34465											
PCDHA9	0	broad.mit.edu	37	chr5	140229544	140229544	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgacgcgcaggagaacgcCctggtgtcctactcgctggt	14	13	0	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140229544C>G	ENST00000378122.3	+	1	2188	c.1464C>G	c.(1462-1464)gcC>gcG	p.A488A	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.A488A|PCDHA6_ENST00000529310.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACGCCCTGGTGTCCT	0.667													False	0	True	5:140229544	0	G	140229544	C	G	140229544	2	3	145	1	0	0	0	0	0	0	0	1	11599	610	22	5		5	PCDHA9	5	140229544	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	53506	140229544	40685716	50	34466											
TCERG1	10915	broad.mit.edu	37	chr5	145851118	145851118	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagccagttgctactgCtcctattcctggtactccat	8	13	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:145851118C>A	ENST00000296702.5	+	9	1618	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D	TCERG1_ENST00000394421.2_Missense_Mutation_p.A506D	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	527					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCTACTGCTCCTATTCCT	0.423													False	0	False	5:145851118	0	A	145851118	C	A	145851118	3	1	145	1	0	0	0	0	1	0	0	0	15767	797	28	3	1614	3	TCERG1	5	145851118	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	5621574	145851118	35064142	51	34467											
GABRG2	0	broad.mit.edu	37	chr5	161580182	161580182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagagagatgaagagtaCggctatgagtgtctggacgg	16	5	1	5			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:161580182C>T	ENST00000356592.3	+	10	1696	c.1236C>T	c.(1234-1236)taC>taT	p.Y412Y	GABRG2_ENST00000393933.4_Silent_p.Y309Y|GABRG2_ENST00000361925.4_Silent_p.Y404Y|GABRG2_ENST00000414552.2_Silent_p.Y452Y	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	404					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATGAAGAGTACGGCTATGAGT	0.488													False	0	False	5:161580182	0	T	161580182	C	T	161580182	2	4	145	1	0	0	0	0	0	0	0	1	6214	547	19	1		1	GABRG2	5	161580182	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	15729064	161580182	19335078	52	34468											
NKX2-5	0	broad.mit.edu	37	chr5	172660081	172660081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccgctgctgcttgaagcGccgctccagctcatagacct	10	15	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:172660081G>A	ENST00000329198.4	-	2	739	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	NKX2-5_ENST00000424406.2_3'UTR|NKX2-5_ENST00000521848.1_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	156					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTGAAGCGCCGCTCCAGC	0.677													False	0	False	5:172660081	0	A	172660081	G	A	172660081	3	1	145	1	0	0	0	0	1	0	0	0	10521	1087	38	1	512	1	NKX2-5	5	172660081	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	11079899	172660081	8255179	53	34469											
PHIP	55023	broad.mit.edu	37	chr6	79711802	79711802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgttggcatcacgaataaGtggccgataatcactatgaa	9	7	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:79711802G>A	ENST00000275034.4	-	17	1860	c.1693C>T	c.(1693-1695)Ctt>Ttt	p.L565F		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	565					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCACGAATAAGTGGCCGATAA	0.358													False	0	False	6:79711802	0	A	79711802	G	A	79711802	3	1	145	1	0	0	0	0	1	0	0	0	11911	1029	36	2	3868	2	PHIP	6	79711802	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		79711802	91403265	54	34470											
GRIK2	2898	broad.mit.edu	37	chr6	102266347	102266347	+	Missense_Mutation	SNP	A	A	T													ccaatcgttctttgattgttAccaccattttggtaagtatt							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:102266347A>T	ENST00000369138.1	+	9	1796	c.1306A>T	c.(1306-1308)Acc>Tcc	p.T436S	GRIK2_ENST00000369137.3_Missense_Mutation_p.T436S|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387S|GRIK2_ENST00000318991.6_Missense_Mutation_p.T436S|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436S|GRIK2_ENST00000421544.1_Missense_Mutation_p.T436S	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	436					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTTGATTGTTACCACCATTTT	0.383													False	0	False	6:102266347	0	T	102266347	A	T	102266347	3	4	145	1	0	0	0	0	1	0	0	0	6821	391	14	5	1340	5	GRIK2	6	102266347	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	22554545	102266347	68848720	55	34471	391	2									
GRIK2	2898	broad.mit.edu	37	chr6	102266348	102266348	+	Missense_Mutation	SNP	C	C	T													caatcgttctttgattgttaCcaccattttggtaagtattt							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:102266348C>T	ENST00000369138.1	+	9	1797	c.1307C>T	c.(1306-1308)aCc>aTc	p.T436I	GRIK2_ENST00000369137.3_Missense_Mutation_p.T436I|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387I|GRIK2_ENST00000318991.6_Missense_Mutation_p.T436I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436I|GRIK2_ENST00000421544.1_Missense_Mutation_p.T436I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	436					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTGATTGTTACCACCATTTTG	0.383													False	0	False	6:102266348	0	T	102266348	C	T	102266348	3	4	145	1	0	0	0	0	1	0	0	0	6821	507	18	2	1341	2	GRIK2	6	102266348	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	1	102266348	68848719	56	34472	391	2									
KIAA1919	91749	broad.mit.edu	37	chr6	111585122	111585122	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcatgatgtctatcttcGgtgtttcaattggcattctg	9	8	5	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:111585122G>T	ENST00000368847.4	+	3	639	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	96					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GTCTATCTTCGGTGTTTCAAT	0.428													False	0	False	6:111585122	0	T	111585122	G	T	111585122	3	4	145	1	0	0	0	0	1	0	0	0	8312	1116	39	3	296	3	KIAA1919	6	111585122	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	9318774	111585122	59529945	57	34473											
PLEKHG1	57480	broad.mit.edu	37	chr6	151121938	151121938	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcaggaaactctgaaacactCgctgcctctggggtcctatc	9	13	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:151121938C>A	ENST00000367328.1	+	7	1025	c.713C>A	c.(712-714)tCg>tAg	p.S238*	PLEKHG1_ENST00000358517.2_Nonsense_Mutation_p.S238*	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	238	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTGAAACACTCGCTGCCTCTG	0.498													False	0	False	6:151121938	0	A	151121938	C	A	151121938	4	1	145	1	0	0	0	0	0	1	0	0	12137	893	31	3	731	3	PLEKHG1	6	151121938	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	39536816	151121938	19993129	58	34474											
LPA	4018	broad.mit.edu	37	chr6	161020546	161020546	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtacgcatttgggtagttTtctggggtccgactatgctg	13	8	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:161020546T>G	ENST00000447678.1	-	21	3393	c.3273A>C	c.(3271-3273)gaA>gaC	p.E1091D	LPA_ENST00000316300.5_Missense_Mutation_p.E1091D	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3599	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTGGGTAGTTTTCTGGGGTCC	0.483													False	0	True	6:161020546	0	G	161020546	T	G	161020546	3	3	145	1	0	0	0	0	1	0	0	0	8965	1838	64	4	2929	4	LPA	6	161020546	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	9898608	161020546	10094521	59	34475											
NDUFA4	4697	broad.mit.edu	37	chr7	10979646	10979646	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcggtcacgaacttacgctCggatgcttcttggcctgacc	11	13	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:10979646C>A	ENST00000339600.5	-	1	237	c.39G>T	c.(37-39)ccG>ccT	p.P13P	NDUFA4_ENST00000492822.1_5'UTR	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa	13					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)	AACTTACGCTCGGATGCTTCT	0.567													False	0	False	7:10979646	0	A	10979646	C	A	10979646	2	1	145	1	0	0	0	0	0	0	0	1	10334	871	31	3		3	NDUFA4	7	10979646	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08		10979646	148159017	60	34476											
HDAC9	9734	broad.mit.edu	37	chr7	18767353	18767353	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacctcacccagcaatggacCgccccctccagcctggctct	7	20	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:18767353C>A	ENST00000406451.4	+	13	2023	c.1873C>A	c.(1873-1875)Cgc>Agc	p.R625S	HDAC9_ENST00000401921.1_Missense_Mutation_p.R584S|HDAC9_ENST00000432645.2_Missense_Mutation_p.R625S|HDAC9_ENST00000441542.2_Missense_Mutation_p.R628S	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCAATGGACCGCCCCCTCCA	0.527													False	0	False	7:18767353	0	A	18767353	C	A	18767353	3	1	145	1	0	0	0	0	1	0	0	0	7061	652	23	3	1979	3	HDAC9	7	18767353	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	7787707	18767353	140371310	61	34477											
FAM188B	84182	broad.mit.edu	37	chr7	30825421	30825421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtatcatctaaaaggccccCgcacaaaagtaagcccatgc	7	13	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:30825421C>A	ENST00000265299.6	+	4	553	c.476C>A	c.(475-477)cCg>cAg	p.P159Q	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	159										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAAGGCCCCCGCACAAAAGT	0.448													False	0	True	7:30825421	0	A	30825421	C	A	30825421	3	1	145	1	0	0	0	0	1	0	0	0	5551	652	23	3	490	3	FAM188B	7	30825421	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	12058068	30825421	128313242	62	34478											
ANLN	54443	broad.mit.edu	37	chr7	36489379	36489379	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttgaattaattactgtcCgaccacaaagagaagatgac	7	8	0	4			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:36489379C>A	ENST00000265748.2	+	23	3405	c.3184C>A	c.(3184-3186)Cga>Aga	p.R1062R	ANLN_ENST00000396068.2_Silent_p.R1025R	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1062	Localization to the cleavage furrow.|PH.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AATTACTGTCCGACCACAAAG	0.408													False	0	False	7:36489379	0	A	36489379	C	A	36489379	2	1	145	1	0	0	0	0	0	0	0	1	694	644	23	3		3	ANLN	7	36489379	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	5663958	36489379	122649284	63	34479											
GLI3	2737	broad.mit.edu	37	chr7	42116379	42116379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaggaatcggagatggatCgtaatggtaacggccctcat	14	7	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:42116379C>T	ENST00000395925.3	-	4	529	c.445G>A	c.(445-447)Gat>Aat	p.D149N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	149					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGAGATGGATCGTAATGGTAA	0.433									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				False	0	False	7:42116379	0	T	42116379	C	T	42116379	3	4	145	1	0	0	0	0	1	0	0	0	6484	884	31	1	4345	1	GLI3	7	42116379	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	5627000	42116379	117022284	64	34480											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													False	1	True	7:44153778	0	-	44153780	AGA	-	44153778	7	5	145	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-YY-A8LH-01A-11D-A36O-08	2037399	44153778	114984885	65	34481											
ABCA13	154664	broad.mit.edu	37	chr7	48317894	48317894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcaagatttatttaatgCccttctcagggaaacttcaa	6	9	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:48317894C>T	ENST00000435803.1	+	18	7127	c.7103C>T	c.(7102-7104)gCc>gTc	p.A2368V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2368					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTTAATGCCCTTCTCAGG	0.308													False	0	True	7:48317894	0	T	48317894	C	T	48317894	3	4	145	1	0	0	0	0	1	0	0	0	31	739	26	2	7002	2	ABCA13	7	48317894	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	4164116	48317894	110820769	66	34482											
KCTD7	154881	broad.mit.edu	37	chr7	66103879	66103879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggagatcgcccggctgcGtgcggtccagcggaaggccc	17	13	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:66103879G>A	ENST00000275532.3	+	4	714	c.530G>A	c.(529-531)cGt>cAt	p.R177H	KCTD7_ENST00000443322.1_Missense_Mutation_p.R177H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	177						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R177H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCCCGGCTGCGTGCGGTCCAG	0.577													False	0	True	7:66103879	0	A	66103879	G	A	66103879	3	1	145	1	0	0	0	0	1	0	0	0	8164	1145	40	1	544	1	KCTD7	7	66103879	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	17785985	66103879	93034784	67	34483											
SAMD9L	219285	broad.mit.edu	37	chr7	92764937	92764937	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatcataatcaatattagaTgacattgaattttcttcttc	5	6	4	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:92764937T>C	ENST00000318238.4	-	5	1564	c.348A>G	c.(346-348)tcA>tcG	p.S116S	SAMD9L_ENST00000437805.1_Silent_p.S116S|SAMD9L_ENST00000411955.1_Silent_p.S116S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	116										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAATATTAGATGACATTGAAT	0.323													False	0	False	7:92764937	0	C	92764937	T	C	92764937	2	2	145	1	0	0	0	0	0	0	0	1	13906	1451	51	4		4	SAMD9L	7	92764937	Silent	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	26661058	92764937	66373726	68	34484											
COL1A2	1278	broad.mit.edu	37	chr7	94039063	94039063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgttgctggggctcccgGcctccctggaccccgcggta	15	17	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:94039063G>A	ENST00000297268.6	+	19	1436	c.965G>A	c.(964-966)gGc>gAc	p.G322D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	322					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGGCTCCCGGCCTCCCTGGA	0.577										HNSCC(75;0.22)			False	0	False	7:94039063	0	A	94039063	G	A	94039063	3	1	145	1	0	0	0	0	1	0	0	0	3701	1203	42	2	1039	2	COL1A2	7	94039063	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	1274126	94039063	65099600	69	34485											
GNB2	2783	broad.mit.edu	37	chr7	100276124	100276124	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcatgtactcccatgacaAcatcatctgtggcatcacct	5	15	4	1	rs147810006		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:100276124A>T	ENST00000303210.4	+	9	1285	c.803A>T	c.(802-804)aAc>aTc	p.N268I	GNB2_ENST00000436220.1_Missense_Mutation_p.N224I|GNB2_ENST00000427895.1_Missense_Mutation_p.N168I|GNB2_ENST00000393926.1_Missense_Mutation_p.N268I|GNB2_ENST00000393924.1_Missense_Mutation_p.N268I|GNB2_ENST00000424361.1_Missense_Mutation_p.N224I|GNB2_ENST00000419828.1_Missense_Mutation_p.N168I	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	268					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCCCATGACAACATCATCTGT	0.607													False	0	False	7:100276124	0	T	100276124	A	T	100276124	3	4	145	1	0	0	0	0	1	0	0	0	6562	43	2	5	833	5	GNB2	7	100276124	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	6237061	100276124	58862539	70	34486											
RELN	5649	broad.mit.edu	37	chr7	103180786	103180786	+	Frame_Shift_Del	DEL	T	T	-													tggaattgctgaaaaggaacTcctgaagaagactccacgag							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:103180786delT	ENST00000428762.1	-	44	6947	c.6788delA	c.(6787-6789)gagfs	p.E2263fs	RELN_ENST00000424685.2_Frame_Shift_Del_p.E2263fs|RELN_ENST00000343529.5_Frame_Shift_Del_p.E2263fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2263					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAAAGGAACTCCTGAAGAAG	0.542													False	1	False	7:103180786	0	-	103180786	T	-	103180786	7	5	145	1	0	1	0	1	0	0	0	0	13299	1551	54	0	3682	0	RELN	7	103180786	Frame_Shift_Del	DEL	T	TCGA-YY-A8LH-01A-11D-A36O-08	2904662	103180786	55957877	71	34487											
SSPO	23145	broad.mit.edu	37	chr7	149503953	149503953	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcttctgcgcccccggctGcacctgcccccctggtcttt	11	19	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:149503953G>T	ENST00000378016.2	+	0	8777							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCCCGGCTGCACCTGCCCC	0.657													False	0	False	7:149503953	0	T	149503953	G	T	149503953	1	4	145	0	1	0	0	0	0	0	0	0	15271	1306	46	3		3	SSPO	7	149503953	RNA	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	46323167	149503953	9634710	72	34488											
USP17L2	377630	broad.mit.edu	37	chr8	11995011	11995011	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttccaccaagcgctcgtccAactcgggtgcctggaggcag	12	14	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:11995011A>T	ENST00000333796.3	-	1	1575	c.1259T>A	c.(1258-1260)tTg>tAg	p.L420*	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	420					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCGCTCGTCCAACTCGGGTGC	0.567													False	0	False	8:11995011	0	T	11995011	A	T	11995011	4	4	145	1	0	0	0	0	0	1	0	0	17132	131	5	5	337	5	USP17L2	8	11995011	Nonsense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08		11995011	134369011	73	34489											
BMP1	649	broad.mit.edu	37	chr8	22054897	22054897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcaagtccgacaacaccGtgtccaaaaagggcttcaag	9	11	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:22054897G>A	ENST00000306385.5	+	15	2741	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M	BMP1_ENST00000306349.8_Missense_Mutation_p.V691M|BMP1_ENST00000397816.3_Missense_Mutation_p.V691M|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	691	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGACAACACCGTGTCCAAAAA	0.567													False	0	False	8:22054897	0	A	22054897	G	A	22054897	3	1	145	1	0	0	0	0	1	0	0	0	1461	1145	40	1	2129	1	BMP1	8	22054897	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	10059886	22054897	124309125	74	34490											
OPRK1	4986	broad.mit.edu	37	chr8	54142191	54142191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccagtctggtgatcctaCgcaggttgcgatctttctct	11	11	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:54142191C>T	ENST00000265572.3	-	4	1106	c.809G>A	c.(808-810)cGt>cAt	p.R270H	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.R181H|OPRK1_ENST00000520287.1_Missense_Mutation_p.R270H	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	270					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GGTGATCCTACGCAGGTTGCG	0.572													False	0	False	8:54142191	0	T	54142191	C	T	54142191	3	4	145	1	0	0	0	0	1	0	0	0	10953	536	19	1	337	1	OPRK1	8	54142191	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	32087294	54142191	92221831	75	34491											
CYP11B1	0	broad.mit.edu	37	chr8	143957228	143957228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggccaggctctcctggcGcagggcctgctgcacgttgg	17	14	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:143957228G>A	ENST00000292427.4	-	6	1053	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	341					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTCTCCTGGCGCAGGGCCTGC	0.642									Familial Hyperaldosteronism type I				False	0	False	8:143957228	0	A	143957228	G	A	143957228	3	1	145	1	0	0	0	0	1	0	0	0	4170	1087	38	1	506	1	CYP11B1	8	143957228	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	89815037	143957228	2406794	76	34492											
PLEC	5339	broad.mit.edu	37	chr8	144994985	144994985	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcacagagcgctcacctcGctgcagctgctggtagagct	12	14	1	2	rs137853161		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:144994985G>A	ENST00000322810.4	-	32	9584	c.9415C>T	c.(9415-9417)Cga>Tga	p.R3139*	PLEC_ENST00000356346.3_Nonsense_Mutation_p.R2988*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.R2970*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.R3025*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.R3029*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.R2980*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.R3006*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3139	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCACCTCGCTGCAGCTGC	0.687													False	0	False	8:144994985	0	A	144994985	G	A	144994985	4	1	145	1	0	0	0	0	0	1	0	0	12121	1095	38	1	4643	1	PLEC	8	144994985	Nonsense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	1037757	144994985	1369037	77	34493											
C9orf72	203228	broad.mit.edu	37	chr9	27567059	27567059	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctaataaaggtgatttgccActtaaagcaatctctgtctt	7	8	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:27567059A>T	ENST00000380003.3	-	2	123	c.60T>A	c.(58-60)agT>agA	p.S20R	C9orf72_ENST00000379997.3_Missense_Mutation_p.S20R|C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	20										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GTGATTTGCCACTTAAAGCAA	0.458													False	0	False	9:27567059	0	T	27567059	A	T	27567059	3	4	145	1	0	0	0	0	1	0	0	0	2515	156	6	5	1429	5	C9orf72	9	27567059	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08		27567059	113646372	78	34494											
TGFBR1	7046	broad.mit.edu	37	chr9	101891263	101891287	+	Frame_Shift_Del	DEL	TTGACTTAATTCCTCGAGATAGGCC	TTGACTTAATTCCTCGAGATAGGCC	-													cagcatgtgtatagctgaaaTtgacttaattcctcgagata							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	TTGACTTAATTCCTCGAGATAGGCC	TTGACTTAATTCCTCGAGATAGGCC	-	-	TTGACTTAATTCCTCGAGATAGGCC	TTGACTTAATTCCTCGAGATAGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:101891263_101891287delTTGACTTAATTCCTCGAGATAGGCC	ENST00000374994.4	+	2	341_365	c.224_248delTTGACTTAATTCCTCGAGATAGGCC	c.(223-249)attgacttaattcctcgagataggccgfs	p.IDLIPRDRP75fs	TGFBR1_ENST00000374990.2_Frame_Shift_Del_p.IDLIPRDRP75fs|TGFBR1_ENST00000552516.1_Frame_Shift_Del_p.IDLIPRDRP75fs|TGFBR1_ENST00000550253.1_Frame_Shift_Del_p.IDLIPRDRP6fs	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	75					activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ATAGCTGAAATTGACTTAATTCCTCGAGATAGGCCGTTTGTATGT	0.404													False	1	False	9:101891263	0	-	101891287	TTGACTTAATTCCTCGAGATAGGCC	-	101891263	7	5	145	1	0	1	0	1	0	0	0	0	15903	1493	52	0	230	0	TGFBR1	9	101891263	Frame_Shift_Del	DEL	TTGACTTAATTCCTCGAGATAGGCC	TCGA-YY-A8LH-01A-11D-A36O-08	74324204	101891263	39322168	79	34495											
OR2K2	26248	broad.mit.edu	37	chr9	114090184	114090184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgccagaatttcacacGtgaagtgatcgatgagattc	10	10	1	4	rs137871340	by1000genomes	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:114090184G>A	ENST00000374428.1	-	1	616	c.617C>T	c.(616-618)aCg>aTg	p.T206M	OR2K2_ENST00000302681.1_Missense_Mutation_p.T177M			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AATTTCACACGTGAAGTGATC	0.517													False	0	False	9:114090184	0	A	114090184	G	A	114090184	3	1	145	1	0	0	0	0	1	0	0	0	11073	1145	40	1	423	1	OR2K2	9	114090184	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	12198921	114090184	27123247	80	34496											
ASS1	445	broad.mit.edu	37	chr9	133355188	133355188	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtacctgaacgaagtcgcGtgagtgtctgcagccctgtc	12	11	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:133355188G>A	ENST00000372394.1	+	11	1254		c.e11+1		ASS1_ENST00000352480.5_Splice_Site|ASS1_ENST00000493984.2_Splice_Site|ASS1_ENST00000372393.3_Splice_Site			P00966	ASSY_HUMAN	argininosuccinate synthase 1						arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ACGAAGTCGCGTGAGTGTCTG	0.617													False	0	False	9:133355188	0	A	133355188	G	A	133355188	5	1	145	1	0	0	0	0	0	0	1	0	1065	1159	40	1	808	1	ASS1	9	133355188	Splice_Site	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	19265004	133355188	7858243	81	34497											
RBP3	5949	broad.mit.edu	37	chr10	48388910	48388910	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggcactggtctgccccacGacctctggccgagcatagtg	13	14	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:48388910G>A	ENST00000224600.4	-	1	2081	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	656	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCTGCCCCACGACCTCTGGCC	0.662													False	0	False	10:48388910	0	A	48388910	G	A	48388910	2	1	145	1	0	0	0	0	0	0	0	1	13236	1045	37	1		1	RBP3	10	48388910	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		48388910	87145837	82	34498											
C10orf53	282966	broad.mit.edu	37	chr10	50916592	50916592	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttccaaaccaatctttgtGacctgggttggccaggcctg	10	11	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:50916592G>A	ENST00000374112.3	+	3	415	c.403G>A	c.(403-405)Gac>Aac	p.D135N	C10orf53_ENST00000535836.1_Missense_Mutation_p.D135N	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				caatctttgtgacctgggttg	0.488													False	0	False	10:50916592	0	A	50916592	G	A	50916592	3	1	145	1	0	0	0	0	1	0	0	0	1614	1290	45	2	482	2	C10orf53	10	50916592	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	2527682	50916592	84618155	83	34499											
PCDH15	65217	broad.mit.edu	37	chr10	55849770	55849770	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagattaaaaactctctgAggatctccattctcaatggc	7	9	3	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:55849770A>G	ENST00000373965.2	-	17	2386	c.1992T>C	c.(1990-1992)ccT>ccC	p.P664P	PCDH15_ENST00000395433.1_Silent_p.P635P|PCDH15_ENST00000395445.1_Silent_p.P664P|PCDH15_ENST00000361849.3_Silent_p.P657P|PCDH15_ENST00000395430.1_Silent_p.P657P|PCDH15_ENST00000414778.1_Silent_p.P662P|PCDH15_ENST00000395438.1_Silent_p.P657P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Silent_p.P657P|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000373955.1_Silent_p.P657P|PCDH15_ENST00000395432.2_Silent_p.P620P|PCDH15_ENST00000320301.6_Silent_p.P657P|PCDH15_ENST00000409834.1_Silent_p.P268P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Silent_p.P635P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	657	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAACTCTCTGAGGATCTCCAT	0.338										HNSCC(58;0.16)			False	0	False	10:55849770	0	G	55849770	A	G	55849770	2	3	145	1	0	0	0	0	0	0	0	1	11579	291	11	4		4	PCDH15	10	55849770	Silent	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	4933178	55849770	79684977	84	34500											
ANKRD2	26287	broad.mit.edu	37	chr10	99338074	99338074	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcgggatccagaacctcatCgagctgcggaagaaacgcaa	13	11	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:99338074C>A	ENST00000307518.5	+	3	615	c.348C>A	c.(346-348)atC>atA	p.I116I	ANKRD2_ENST00000455090.1_Silent_p.I89I|ANKRD2_ENST00000298808.5_Silent_p.I116I|ANKRD2_ENST00000370655.1_Silent_p.I89I			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	116					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		AGAACCTCATCGAGCTGCGGA	0.662													False	0	False	10:99338074	0	A	99338074	C	A	99338074	2	1	145	1	0	0	0	0	0	0	0	1	647	874	31	3		3	ANKRD2	10	99338074	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	43488304	99338074	36196673	85	34501											
INA	9118	broad.mit.edu	37	chr10	105037160	105037160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgctcggcctcggcctGgcctatcgccggccgccggc	14	19	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:105037160G>A	ENST00000369849.4	+	1	241	c.192G>A	c.(190-192)ctG>ctA	p.L64L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	64	Head.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GCCTCGGCCTGGCCTATCGCC	0.741													False	0	True	10:105037160	0	A	105037160	G	A	105037160	2	1	145	1	0	0	0	0	0	0	0	1	7780	1335	47	2		2	INA	10	105037160	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	5699086	105037160	30497587	86	34502											
ATRNL1	26033	broad.mit.edu	37	chr10	117226743	117226743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactttaatctcaacattacGtggtctgtcggttcaacagg	8	9	3	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:117226743G>A	ENST00000355044.3	+	23	3603	c.3477G>A	c.(3475-3477)acG>acA	p.T1159T	ATRNL1_ENST00000423111.2_Silent_p.T210T|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1159						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCAACATTACGTGGTCTGTCG	0.294													False	0	False	10:117226743	0	A	117226743	G	A	117226743	2	1	145	1	0	0	0	0	0	0	0	1	1211	1132	40	1		1	ATRNL1	10	117226743	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	12189583	117226743	18308004	87	34503											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118203960	118203960	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacggttcacgggaatacAtccatgctgtaaacaatctc	7	11	3	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:118203960A>C	ENST00000369230.3	+	4	537	c.391A>C	c.(391-393)Atc>Ctc	p.I131L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	131					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ACGGGAATACATCCATGCTGT	0.318													False	0	False	10:118203960	0	C	118203960	A	C	118203960	3	2	145	1	0	0	0	0	1	0	0	0	12221	217	8	4	405	4	PNLIPRP3	10	118203960	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	977217	118203960	17330787	88	34504											
MKI67	4288	broad.mit.edu	37	chr10	129905212	129905212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagggatgtcttgagccgtCgcttggagcttgctgggttt	15	9	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:129905212C>T	ENST00000368654.3	-	13	5267	c.4892G>A	c.(4891-4893)cGa>cAa	p.R1631Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R1271Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1631	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTGAGCCGTCGCTTGGAGCT	0.502													False	0	False	10:129905212	0	T	129905212	C	T	129905212	3	4	145	1	0	0	0	0	1	0	0	0	9665	884	31	1	4890	1	MKI67	10	129905212	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	11701252	129905212	5629535	89	34505											
FAM160A2	84067	broad.mit.edu	37	chr11	6235766	6235766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtcctcctgggaagccGcaaagttctcaatcttattc	9	11	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:6235766G>A	ENST00000265978.4	-	11	2832	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	FAM160A2_ENST00000449352.2_Missense_Mutation_p.A811V|FAM160A2_ENST00000529360.1_5'UTR	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	811					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGGGAAGCCGCAAAGTTCTC	0.532													False	0	False	11:6235766	0	A	6235766	G	A	6235766	3	1	145	1	0	0	0	0	1	0	0	0	5505	1087	38	1	494	1	FAM160A2	11	6235766	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		6235766	128770750	90	34506											
MRVI1	10335	broad.mit.edu	37	chr11	10622527	10622527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaaactccatgagctccGcatggtccttctcatacgtc	6	13	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:10622527G>A	ENST00000547195.1	-	14	2182	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	MRVI1_ENST00000545852.1_Missense_Mutation_p.A337V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A561V|MRVI1_ENST00000424001.1_Missense_Mutation_p.A337V|MRVI1_ENST00000541483.1_Missense_Mutation_p.A446V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A337V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A643V|MRVI1_ENST00000552103.1_Missense_Mutation_p.A561V|MRVI1_ENST00000436272.1_Missense_Mutation_p.A625V|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000558540.1_Missense_Mutation_p.A337V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A644V|MRVI1_ENST00000423302.2_Missense_Mutation_p.A652V	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	625					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CATGAGCTCCGCATGGTCCTT	0.517													False	0	False	11:10622527	0	A	10622527	G	A	10622527	3	1	145	1	0	0	0	0	1	0	0	0	9920	1087	38	1	811	1	MRVI1	11	10622527	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	4386761	10622527	124383989	91	34507											
SPON1	10418	broad.mit.edu	37	chr11	14157106	14157106	+	RNA	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgaaaatggaggaagaaattCgacaacaggtaagacaaaaa	10	4	0	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:14157106C>A	ENST00000310358.7	+	0	1352							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGAAGAAATTCGACAACAGGT	0.418													False	0	False	11:14157106	0	A	14157106	C	A	14157106	1	1	145	0	1	0	0	0	0	0	0	0	15164	876	31	3		3	SPON1	11	14157106	RNA	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	3534579	14157106	120849410	92	34508											
DDB1	1642	broad.mit.edu	37	chr11	61083828	61083828	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atccacgaaacccatcagttCggtttcttctacctcctctc	4	16	4	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:61083828C>A	ENST00000301764.7	-	12	1736	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	447	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCCATCAGTTCGGTTTCTTCT	0.517								Nucleotide excision repair (NER)					False	0	False	11:61083828	0	A	61083828	C	A	61083828	4	1	145	1	0	0	0	0	0	1	0	0	4348	893	31	3	2147	3	DDB1	11	61083828	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	46926722	61083828	73922688	93	34509											
PPFIA1	8500	broad.mit.edu	37	chr11	70171012	70171012	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcggtctcttaggatgacCgtggtgaagagacaagcgca	15	8	1	3	rs144282210	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:70171012C>A	ENST00000253925.7	+	4	641	c.426C>A	c.(424-426)acC>acA	p.T142T	CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.T142T|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	142					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.T142T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTAGGATGACCGTGGTGAAGA	0.473													False	0	False	11:70171012	0	A	70171012	C	A	70171012	2	1	145	1	0	0	0	0	0	0	0	1	12378	639	23	3		3	PPFIA1	11	70171012	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	9087184	70171012	64835504	94	34510											
RDX	5962	broad.mit.edu	37	chr11	110108333	110108333	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcttttgctcgttttcGttcttgatccagttctagag	7	9	4	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:110108333G>A	ENST00000343115.4	-	11	1454	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	RDX_ENST00000405097.1_Nonsense_Mutation_p.R379*|RDX_ENST00000528498.1_Nonsense_Mutation_p.R379*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R32*|RDX_ENST00000544551.1_Nonsense_Mutation_p.R243*|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	379	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GCTCGTTTTCGTTCTTGATCC	0.423													False	0	False	11:110108333	0	A	110108333	G	A	110108333	4	1	145	1	0	0	0	0	0	1	0	0	13277	1153	40	1	632	1	RDX	11	110108333	Nonsense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	39937321	110108333	24898183	95	34511											
OR10G9	219870	broad.mit.edu	37	chr11	123894641	123894641	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagagacaaagtagcacatTctcagggagaataaatacta	9	6	1	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:123894641T>C	ENST00000375024.1	+	1	922	c.922T>C	c.(922-924)Tct>Cct	p.S308P		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGTAGCACATTCTCAGGGAGA	0.358													False	0	False	11:123894641	0	C	123894641	T	C	123894641	3	2	145	1	0	0	0	0	1	0	0	0	10972	1783	62	4	924	4	OR10G9	11	123894641	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	13786308	123894641	11111875	96	34512											
ACRBP	84519	broad.mit.edu	37	chr12	6753307	6753307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaacttcctatacctgcCagggttttggtttctccagt	7	11	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:6753307C>T	ENST00000229243.2	-	5	1033	c.940G>A	c.(940-942)Ggc>Agc	p.G314S	ACRBP_ENST00000414226.2_Missense_Mutation_p.G281S|ACRBP_ENST00000536350.1_Missense_Mutation_p.G314S	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	314						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTATACCTGCCAGGGTTTTGG	0.463													False	0	False	12:6753307	0	T	6753307	C	T	6753307	3	4	145	1	0	0	0	0	1	0	0	0	170	594	21	2	715	2	ACRBP	12	6753307	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08		6753307	127098588	97	34513											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	145	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	18644977	25398284	108453611	98	34514											
LARP4	113251	broad.mit.edu	37	chr12	50847262	50847262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggataaaagccatcaAtacattttttgctaagaatg	8	6	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:50847262A>G	ENST00000398473.2	+	9	936	c.824A>G	c.(823-825)aAt>aGt	p.N275S	LARP4_ENST00000518444.1_Missense_Mutation_p.N274S|LARP4_ENST00000293618.8_Missense_Mutation_p.N275S|LARP4_ENST00000522085.1_Missense_Mutation_p.N275S|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000429001.3_Missense_Mutation_p.N281S|LARP4_ENST00000518561.1_Missense_Mutation_p.N205S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	275	RRM.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AAAGCCATCAATACATTTTTT	0.308													False	0	False	12:50847262	0	G	50847262	A	G	50847262	3	3	145	1	0	0	0	0	1	0	0	0	8681	101	4	4	858	4	LARP4	12	50847262	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	25448978	50847262	83004633	99	34515											
RNF41	10193	broad.mit.edu	37	chr12	56600246	56600246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcttatatctcttccacGccatgcgcaaatatcatgac	4	13	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:56600246G>A	ENST00000345093.4	-	7	1308	c.939C>T	c.(937-939)ggC>ggT	p.G313G	RNF41_ENST00000552656.1_Silent_p.G313G|RNF41_ENST00000394013.2_Silent_p.G242G	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	313					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TCTCTTCCACGCCATGCGCAA	0.522											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	12:56600246	0	A	56600246	G	A	56600246	2	1	145	1	0	0	0	0	0	0	0	1	13573	1074	38	1		1	RNF41	12	56600246	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	5752984	56600246	77251649	100	34516											
KSR2	283455	broad.mit.edu	37	chr12	118405988	118405988	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatcatgttttggaccagttCgcactgctgtaaggcttttt	9	8	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:118405988C>A	ENST00000339824.5	-	1	800	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	KSR2_ENST00000425217.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	25					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGACCAGTTCGCACTGCTGT	0.507													False	0	False	12:118405988	0	A	118405988	C	A	118405988	4	1	145	1	0	0	0	0	0	1	0	0	8633	899	31	3		3	KSR2	12	118405988	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	61805742	118405988	15445907	101	34517											
TMEM132D	121256	broad.mit.edu	37	chr12	129822360	129822360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtaggaggcgccatccGcactggagagaagacacaga	13	12	0	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:129822360G>A	ENST00000422113.2	-	4	1444	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	373						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCGCCATCCGCACTGGAGAG	0.592													False	0	False	12:129822360	0	A	129822360	G	A	129822360	3	1	145	1	0	0	0	0	1	0	0	0	16129	1087	38	1	2205	1	TMEM132D	12	129822360	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	11416372	129822360	4029535	102	34518											
FZD10	11211	broad.mit.edu	37	chr12	130648711	130648711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggcctgctacctggtcatCggcacgtccttcatcctctc	8	17	3	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:130648711C>T	ENST00000539839.1	+	1	1708	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	FZD10_ENST00000229030.4_Silent_p.I408I	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACCTGGTCATCGGCACGTCCT	0.642													False	0	False	12:130648711	0	T	130648711	C	T	130648711	3	4	145	1	0	0	0	0	1	0	0	0	6171	874	31	1	1226	1	FZD10	12	130648711	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	826351	130648711	3203184	103	34519											
FNDC3A	22862	broad.mit.edu	37	chr13	49775956	49775956	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtttgtatccctatacagagGaccatgtcatacatacaaag	7	9	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:49775956G>C	ENST00000492622.2	+	24	3313	c.3008G>C	c.(3007-3009)gGa>gCa	p.G1003A	FNDC3A_ENST00000541916.1_Missense_Mutation_p.G1003A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G947A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1003	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTATACAGAGGACCATGTCAT	0.328													False	0	False	13:49775956	0	C	49775956	G	C	49775956	3	2	145	1	0	0	0	0	1	0	0	0	6009	1174	41	5	3109	5	FNDC3A	13	49775956	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		49775956	65393922	104	34520											
CCDC70	83446	broad.mit.edu	37	chr13	52439534	52439534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggccaccccgccattccGgctgataaggaagatgtttt	10	12	0	2	rs141731440		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:52439534G>T	ENST00000242819.4	+	2	316	c.20G>T	c.(19-21)cGg>cTg	p.R7L		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	7						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCGCCATTCCGGCTGATAAGG	0.577													False	0	False	13:52439534	0	T	52439534	G	T	52439534	3	4	145	1	0	0	0	0	1	0	0	0	2864	1116	39	3	22	3	CCDC70	13	52439534	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	2663578	52439534	62730344	105	34521											
ATP7B	540	broad.mit.edu	37	chr13	52585461	52585461	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctggctgtgatctgtctctCctgctcaggcatcgtcccgc	10	15	4	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:52585461C>A	ENST00000242839.4	-	1	169	c.13G>T	c.(13-15)Gag>Tag	p.E5*	ATP7B_ENST00000400366.3_Nonsense_Mutation_p.E5*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.E5*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.E5*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	5					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATCTGTCTCTCCTGCTCAGGC	0.592									Wilson disease				False	0	True	13:52585461	0	A	52585461	C	A	52585461	4	1	145	1	0	0	0	0	0	1	0	0	1195	864	30	3	4468	3	ATP7B	13	52585461	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	145927	52585461	62584417	106	34522											
COL4A1	1282	broad.mit.edu	37	chr13	110857736	110857736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgagtcctgggtacccGggttcaccaggaaaaccctg	11	13	1	1	rs138809869		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:110857736G>A	ENST00000375820.4	-	17	1042	c.921C>T	c.(919-921)ccC>ccT	p.P307P	COL4A1_ENST00000543140.1_Silent_p.P307P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	307	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGGTACCCGGGTTCACCAG	0.512													False	0	True	13:110857736	0	A	110857736	G	A	110857736	2	1	145	1	0	0	0	0	0	0	0	1	3712	1103	39	1		1	COL4A1	13	110857736	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	58272275	110857736	4312142	107	34523											
MDGA2	161357	broad.mit.edu	37	chr14	47426671	47426671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaagactcttcacagcGtactctgtgtattcctgaga	9	9	3	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:47426671G>A	ENST00000426342.1	-	9	1847	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	MDGA2_ENST00000399232.2_Silent_p.Y596Y|MDGA2_ENST00000439988.3_Silent_p.Y665Y|MDGA2_ENST00000357362.3_Silent_p.Y367Y	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	596	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTTCACAGCGTACTCTGTGT	0.443													False	0	False	14:47426671	0	A	47426671	G	A	47426671	2	1	145	1	0	0	0	0	0	0	0	1	9474	1140	40	1		1	MDGA2	14	47426671	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		47426671	59922869	108	34524											
RPS6KA5	9252	broad.mit.edu	37	chr14	91372565	91372565	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatctcttcttgggatctttCatcaaaagacgctgaattag	7	8	5	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:91372565C>T	ENST00000261991.3	-	8	1058	c.885G>A	c.(883-885)atG>atA	p.M295I	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.M216I|RPS6KA5_ENST00000556304.1_5'UTR|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.M295I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	295	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TGGGATCTTTCATCAAAAGAC	0.383													False	0	True	14:91372565	0	T	91372565	C	T	91372565	3	4	145	1	0	0	0	0	1	0	0	0	13733	826	29	2	1569	2	RPS6KA5	14	91372565	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	43945894	91372565	15976975	109	34525											
VRK1	7443	broad.mit.edu	37	chr14	97319216	97319216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagtgaccttcagaaaatAtatgaagcaaatgccaaaag	10	6	1	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:97319216A>G	ENST00000216639.3	+	6	572	c.423A>G	c.(421-423)atA>atG	p.I141M		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	141	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TTCAGAAAATATATGAAGCAA	0.328													False	0	True	14:97319216	0	G	97319216	A	G	97319216	3	3	145	1	0	0	0	0	1	0	0	0	17303	439	16	4	441	4	VRK1	14	97319216	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	5946651	97319216	10030324	110	34526											
NIPA1	123606	broad.mit.edu	37	chr15	23049053	23049053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccccgaacaccgaggagtCgaagcactccagcgccttgt	12	15	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:23049053C>T	ENST00000437912.2	-	5	1838	c.541G>A	c.(541-543)Gac>Aac	p.D181N	NIPA1_ENST00000337435.4_Missense_Mutation_p.D256N|NIPA1_ENST00000561183.1_Missense_Mutation_p.D181N|NIPA1_ENST00000538684.1_Missense_Mutation_p.D86N			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	256					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		ACCGAGGAGTCGAAGCACTCC	0.612													False	0	False	15:23049053	0	T	23049053	C	T	23049053	3	4	145	1	0	0	0	0	1	0	0	0	10490	884	31	1	227	1	NIPA1	15	23049053	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08		23049053	79482339	111	34527											
MYO9A	4649	broad.mit.edu	37	chr15	72300289	72300289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggctgagagaagagagaAaatcctgggaaaataaaaca	11	4	0	4			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:72300289A>G	ENST00000356056.5	-	8	1730	c.1258T>C	c.(1258-1260)Ttc>Ctc	p.F420L	RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.F420L|MYO9A_ENST00000566885.1_Missense_Mutation_p.F15L|MYO9A_ENST00000444904.1_Missense_Mutation_p.F401L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F420L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	420	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGAGAGAAAATCCTGGGA	0.343													False	0	True	15:72300289	0	G	72300289	A	G	72300289	3	3	145	1	0	0	0	0	1	0	0	0	10151	14	1	4	6528	4	MYO9A	15	72300289	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	49251236	72300289	30231103	112	34528											
BLM	641	broad.mit.edu	37	chr15	91303899	91303899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattgtggagatacaggccTgattcacttgatggccctat	10	9	2	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:91303899T>C	ENST00000355112.3	+	7	1414	c.1296T>C	c.(1294-1296)ccT>ccC	p.P432P	BLM_ENST00000560509.1_Silent_p.P432P	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	432					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GATACAGGCCTGATTCACTTG	0.418			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				False	0	False	15:91303899	0	C	91303899	T	C	91303899	2	2	145	1	0	0	0	0	0	0	0	1	1450	1567	55	4		4	BLM	15	91303899	Silent	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	19003610	91303899	11227493	113	34529											
ABCA3	21	broad.mit.edu	37	chr16	2347398	2347398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggccatgatggcgatgCggtctcccagcaggtcagcc	13	14	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:2347398C>T	ENST00000301732.5	-	17	2895	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H	ABCA3_ENST00000382381.3_Missense_Mutation_p.R674H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	732	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GATGGCGATGCGGTCTCCCAG	0.632													False	0	False	16:2347398	0	T	2347398	C	T	2347398	3	4	145	1	0	0	0	0	1	0	0	0	33	768	27	1	2987	1	ABCA3	16	2347398	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08		2347398	88007355	114	34530											
APRT	353	broad.mit.edu	37	chr16	88877975	88877975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgcgatgtagtcgatgCggcccccgtgggtcgccttc	14	15	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:88877975C>T	ENST00000378364.3	-	2	214	c.170G>A	c.(169-171)cGc>cAc	p.R57H	APRT_ENST00000563655.1_Missense_Mutation_p.R57H|APRT_ENST00000426324.2_Missense_Mutation_p.R57H	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	57					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	GTAGTCGATGCGGCCCCCGTG	0.716													False	0	False	16:88877975	0	T	88877975	C	T	88877975	3	4	145	1	0	0	0	0	1	0	0	0	821	768	27	1	388	1	APRT	16	88877975	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	86530577	88877975	1476778	115	34531											
POLR2A	5430	broad.mit.edu	37	chr17	7416998	7416998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacctcaccaagttactcCccttccagcccacgatacac	4	20	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:7416998C>T	ENST00000322644.6	+	29	5814	c.5415C>T	c.(5413-5415)tcC>tcT	p.S1805S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1805	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAAGTTACTCCCCTTCCAGCC	0.572													False	0	True	17:7416998	0	T	7416998	C	T	7416998	2	4	145	1	0	0	0	0	0	0	0	1	12283	610	22	2		2	POLR2A	17	7416998	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08		7416998	73778212	116	34532											
ARHGEF15	22899	broad.mit.edu	37	chr17	8216367	8216367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccccgtcgggcctccccGctgcggacctctcgctcccg	11	22	1	0	rs150417950		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:8216367G>A	ENST00000361926.3	+	3	839	c.729G>A	c.(727-729)ccG>ccA	p.P243P	ARHGEF15_ENST00000421050.1_Silent_p.P243P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	243					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GGGCCTCCCCGCTGCGGACCT	0.697													False	0	True	17:8216367	0	A	8216367	G	A	8216367	2	1	145	1	0	0	0	0	0	0	0	1	900	1074	38	1		1	ARHGEF15	17	8216367	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	799369	8216367	72978843	117	34533											
MYH4	4622	broad.mit.edu	37	chr17	10350494	10350494	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagttgttccttaaggtcatCttggcctctgatggcatcat	9	10	4	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:10350494C>T	ENST00000255381.2	-	35	5115	c.5005G>A	c.(5005-5007)Gat>Aat	p.D1669N	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1669					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.D1669N(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTAAGGTCATCTTGGCCTCTG	0.478													False	0	False	17:10350494	0	T	10350494	C	T	10350494	3	4	145	1	0	0	0	0	1	0	0	0	10104	913	32	2	838	2	MYH4	17	10350494	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	2134127	10350494	70844716	118	34534											
MYO1D	4642	broad.mit.edu	37	chr17	31094737	31094737	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gactttcatggcatcagcaaCaactctgaattcggcagcat	8	11	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:31094737C>G	ENST00000318217.5	-	7	1052	c.748G>C	c.(748-750)Gtt>Ctt	p.V250L	MYO1D_ENST00000583621.1_Missense_Mutation_p.V250L|MYO1D_ENST00000579584.1_Missense_Mutation_p.V250L|MYO1D_ENST00000394649.4_Missense_Mutation_p.V162L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	250	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GCATCAGCAACAACTCTGAAT	0.388													False	0	False	17:31094737	0	G	31094737	C	G	31094737	3	3	145	1	0	0	0	0	1	0	0	0	10138	478	17	5	2336	5	MYO1D	17	31094737	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	20744243	31094737	50100473	119	34535											
JUP	3728	broad.mit.edu	37	chr17	39778723	39778723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctgcgcaggccattgatgtCggcctccacactcaggcgca	11	16	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:39778723C>A	ENST00000540235.1	-	6	1032	c.1033G>T	c.(1033-1035)Gac>Tac	p.D345Y	KRT17_ENST00000311208.8_Missense_Mutation_p.D186Y			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCATTGATGTCGGCCTCCACA	0.612													False	0	False	17:39778723	0	A	39778723	C	A	39778723	3	1	145	1	0	0	0	0	1	0	0	0	8022	884	31	3		3	JUP	17	39778723	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	8683986	39778723	41416487	120	34536											
CNTNAP1	8506	broad.mit.edu	37	chr17	40839935	40839935	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggccacgtggagctgacgctCagcgaagggcaggtcaacgt	16	11	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:40839935C>A	ENST00000264638.4	+	8	1459	c.1242C>A	c.(1240-1242)ctC>ctA	p.L414L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	414	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGCTGACGCTCAGCGAAGGGC	0.637													False	0	False	17:40839935	0	A	40839935	C	A	40839935	2	1	145	1	0	0	0	0	0	0	0	1	3669	813	29	3		3	CNTNAP1	17	40839935	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	1061212	40839935	40355275	121	34537											
RNF43	54894	broad.mit.edu	37	chr17	56434978	56434978	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accacactggctgtgaatttGagtaacaggggcctggggtt	14	8	0	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56434978G>A	ENST00000584437.1	-	8	4114	c.2159C>T	c.(2158-2160)tCa>tTa	p.S720L	RNF43_ENST00000577716.1_Missense_Mutation_p.S720L|RNF43_ENST00000407977.2_Missense_Mutation_p.S720L|RNF43_ENST00000581868.1_Missense_Mutation_p.S593L|RNF43_ENST00000500597.2_Missense_Mutation_p.S679L|RNF43_ENST00000583753.1_Missense_Mutation_p.S679L|RNF43_ENST00000577625.1_Missense_Mutation_p.S593L|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	720	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTGAATTTGAGTAACAGGG	0.592													False	0	True	17:56434978	0	A	56434978	G	A	56434978	3	1	145	1	0	0	0	0	1	0	0	0	13574	1294	45	2	200	2	RNF43	17	56434978	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	15595043	56434978	24760232	122	34538											
RNF43	54894	broad.mit.edu	37	chr17	56448366	56448366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctccagattgtcgtcatcaCtggcattgcacaggtacagc	10	12	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56448366C>A	ENST00000584437.1	-	2	2236	c.281G>T	c.(280-282)aGt>aTt	p.S94I	RNF43_ENST00000577716.1_Missense_Mutation_p.S94I|RNF43_ENST00000407977.2_Missense_Mutation_p.S94I|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000577625.1_5'UTR|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	94						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTCGTCATCACTGGCATTGCA	0.582													False	0	False	17:56448366	0	A	56448366	C	A	56448366	3	1	145	1	0	0	0	0	1	0	0	0	13574	565	20	3	2102	3	RNF43	17	56448366	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	13388	56448366	24746844	123	34539											
HSF5	124535	broad.mit.edu	37	chr17	56557381	56557381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgggctgcagtgtataGgtaacctcagttggaaacct	13	8	1	0	rs115372024	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56557381G>A	ENST00000323777.3	-	2	907	c.798C>T	c.(796-798)acC>acT	p.T266T		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	266						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGTGTATAGGTAACCTCAG	0.478													False	0	False	17:56557381	0	A	56557381	G	A	56557381	2	1	145	1	0	0	0	0	0	0	0	1	7446	987	35	2		2	HSF5	17	56557381	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	109015	56557381	24637829	124	34540											
NDUFV2	4729	broad.mit.edu	37	chr18	9126881	9126881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgatgagctcaaggctgGcaaaatcccaaaaccagggc	10	10	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:9126881G>A	ENST00000400033.1	+	8	758	c.641G>A	c.(640-642)gGc>gAc	p.G214D	RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.G211D|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	211					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	CTCAAGGCTGGCAAAATCCCA	0.294													False	0	False	18:9126881	0	A	9126881	G	A	9126881	3	1	145	1	0	0	0	0	1	0	0	0	10368	1203	42	2	658	2	NDUFV2	18	9126881	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		9126881	68950367	125	34541											
LAMA3	3909	broad.mit.edu	37	chr18	21355821	21355821	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggccgctgtcactgcaagCcaaatttccacggagacaac	9	14	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:21355821C>G	ENST00000313654.9	+	10	1580	c.1339C>G	c.(1339-1341)Cca>Gca	p.P447A	LAMA3_ENST00000399516.3_Missense_Mutation_p.P447A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	447	Domain V.|Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACTGCAAGCCAAATTTCCA	0.498													False	0	False	18:21355821	0	G	21355821	C	G	21355821	3	3	145	1	0	0	0	0	1	0	0	0	8658	739	26	5	1377	5	LAMA3	18	21355821	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	12228940	21355821	56721427	126	34542											
TCEB3B	51224	broad.mit.edu	37	chr18	44559687	44559687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgaagtatcataaggcGtcttggccacagatttgaaa	9	8	2	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:44559687G>A	ENST00000332567.4	-	1	2301	c.1949C>T	c.(1948-1950)aCg>aTg	p.T650M	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	650	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ATCATAAGGCGTCTTGGCCAC	0.537													False	0	False	18:44559687	0	A	44559687	G	A	44559687	3	1	145	1	0	0	0	0	1	0	0	0	15764	1145	40	1	316	1	TCEB3B	18	44559687	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	23203866	44559687	33517561	127	34543											
ZNF555	148254	broad.mit.edu	37	chr19	2852530	2852530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtcttcatgcatcgccGcacatccctcaagagtccca	6	15	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:2852530G>A	ENST00000334241.4	+	4	605	c.467G>A	c.(466-468)cGc>cAc	p.R156H	ZNF555_ENST00000591539.1_Missense_Mutation_p.R155H|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCATCGCCGCACATCCCTC	0.468													False	0	False	19:2852530	0	A	2852530	G	A	2852530	3	1	145	1	0	0	0	0	1	0	0	0	18069	1087	38	1	481	1	ZNF555	19	2852530	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		2852530	56276453	128	34544											
RPL36	25873	broad.mit.edu	37	chr19	5691442	5691442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctccaaggacaaacgggCcctcaaatttatcaagaaaa	8	10	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:5691442C>T	ENST00000577222.1	+	5	750	c.206C>T	c.(205-207)gCc>gTc	p.A69V	RPL36_ENST00000347512.3_Missense_Mutation_p.A69V|RPL36_ENST00000579649.1_Missense_Mutation_p.A69V|RPL36_ENST00000394580.2_Missense_Mutation_p.A69V|RPL36_ENST00000579446.1_Missense_Mutation_p.A69V			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	69					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome			breast(1)|upper_aerodigestive_tract(1)	2						GACAAACGGGCCCTCAAATTT	0.642											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	19:5691442	0	T	5691442	C	T	5691442	3	4	145	1	0	0	0	0	1	0	0	0	13665	739	26	2	212	2	RPL36	19	5691442	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	2838912	5691442	53437541	129	34545											
MUC16	94025	broad.mit.edu	37	chr19	9058858	9058858	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggaagaggaatagagttcctCtgtagcactggtggtttcca	13	7	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:9058858C>G	ENST00000397910.4	-	3	28791	c.28588G>C	c.(28588-28590)Gag>Cag	p.E9530Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9532	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGAGTTCCTCTGTAGCACTG	0.483													False	0	False	19:9058858	0	G	9058858	C	G	9058858	3	3	145	1	0	0	0	0	1	0	0	0	10040	922	32	5	15263	5	MUC16	19	9058858	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	3367416	9058858	50070125	130	34546											
ZNF709	163051	broad.mit.edu	37	chr19	12575884	12575884	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caactaagagctttaccacaTtgcttacactgatagggttt	7	9	0	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:12575884T>C	ENST00000397732.3	-	4	1023	c.852A>G	c.(850-852)caA>caG	p.Q284Q	ZNF709_ENST00000428311.1_Silent_p.Q284Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACATTGCTTACACT	0.373													False	0	False	19:12575884	0	C	12575884	T	C	12575884	2	2	145	1	0	0	0	0	0	0	0	1	18196	1490	52	4		4	ZNF709	19	12575884	Silent	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	3517026	12575884	46553099	131	34547											
FARSA	2193	broad.mit.edu	37	chr19	13039582	13039582	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgctacctggagatcatctCtgggctcagctctgtctctt	9	13	5	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:13039582C>T	ENST00000588025.1	-	6	843	c.703G>A	c.(703-705)Gag>Aag	p.E235K	FARSA_ENST00000423140.2_Intron|FARSA_ENST00000314606.4_Missense_Mutation_p.E195K			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	195					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GAGATCATCTCTGGGCTCAGC	0.627													False	0	False	19:13039582	0	T	13039582	C	T	13039582	3	4	145	1	0	0	0	0	1	0	0	0	5719	922	32	2	979	2	FARSA	19	13039582	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	463698	13039582	46089401	132	34548											
ZNF208	7757	broad.mit.edu	37	chr19	22171676	22171676	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cattgccactcctccagagaGaattctatggccacatccct	6	15	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:22171676G>T	ENST00000397126.4	-	2	187	c.39C>A	c.(37-39)ttC>ttA	p.F13L	ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000599916.1_Missense_Mutation_p.F13L|ZNF208_ENST00000601773.1_Missense_Mutation_p.F13L	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCTCCAGAGAGAATTCTATGG	0.408													False	0	True	19:22171676	0	T	22171676	G	T	22171676	3	4	145	1	0	0	0	0	1	0	0	0	17849	933	33	3	3815	3	ZNF208	19	22171676	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	9132094	22171676	36957307	133	34549											
ZNF536	9745	broad.mit.edu	37	chr19	30936183	30936183	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtacgtgttagtgggagcaGatggctccaagcagaaaatg	14	6	0	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:30936183G>T	ENST00000355537.3	+	2	1861	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTGGGAGCAGATGGCTCCAA	0.527													False	0	False	19:30936183	0	T	30936183	G	T	30936183	3	4	145	1	0	0	0	0	1	0	0	0	18057	942	33	3	1716	3	ZNF536	19	30936183	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	8764507	30936183	28192800	134	34550											
ZNF585B	92285	broad.mit.edu	37	chr19	37677796	37677796	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcccacattcactacattCatatagtttttctccggtat	3	11	3	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:37677796C>T	ENST00000532828.2	-	5	894	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E160K|ZNF585B_ENST00000527838.1_Silent_p.*158*|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACTACATTCATATAGTTTT	0.388													False	0	False	19:37677796	0	T	37677796	C	T	37677796	3	4	145	1	0	0	0	0	1	0	0	0	18101	835	29	2	1670	2	ZNF585B	19	37677796	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	6741613	37677796	21451187	135	34551											
RYR1	6261	broad.mit.edu	37	chr19	39070714	39070714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctcctggacatcgccatGggggtcaagacgctgcgcac	12	14	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:39070714G>A	ENST00000355481.4	+	99	14573	c.14442G>A	c.(14440-14442)atG>atA	p.M4814I	RYR1_ENST00000359596.3_Missense_Mutation_p.M4819I|RYR1_ENST00000360985.3_Missense_Mutation_p.M4814I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4819			L -> F (in CCD).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACATCGCCATGGGGGTCAAGA	0.597													False	0	True	19:39070714	0	A	39070714	G	A	39070714	3	1	145	1	0	0	0	0	1	0	0	0	13847	1348	47	2	14855	2	RYR1	19	39070714	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	1392918	39070714	20058269	136	34552											
PSG6	5675	broad.mit.edu	37	chr19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccggtgggttagagtccGcaaagcaggacaagtcgagg	16	9	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:43411250G>A	ENST00000187910.2	-	5	1129	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448													False	0	False	19:43411250	0	A	43411250	G	A	43411250	3	1	145	1	0	0	0	0	1	0	0	0	12735	1087	38	1	290	1	PSG6	19	43411250	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	4340536	43411250	15717733	137	34553											
GPR4	2828	broad.mit.edu	37	chr19	46094142	46094142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgctgttcctcttggagGtgagtggggtctccagggtg	17	8	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:46094142G>T	ENST00000323040.4	-	2	1927	c.983C>A	c.(982-984)aCc>aAc	p.T328N	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	328						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CCTCTTGGAGGTGAGTGGGGT	0.652													False	0	False	19:46094142	0	T	46094142	G	T	46094142	3	4	145	1	0	0	0	0	1	0	0	0	6740	1261	44	3	109	3	GPR4	19	46094142	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	2682892	46094142	13034841	138	34554											
NANOS2	339345	broad.mit.edu	37	chr19	46417571	46417571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccggccgagttgcgcccGctgcggcggtagagggactg	18	13	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:46417571G>A	ENST00000341294.2	-	1	465	c.381C>T	c.(379-381)agC>agT	p.S127S		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	127					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		AGTTGCGCCCGCTGCGGCGGT	0.667													False	0	True	19:46417571	0	A	46417571	G	A	46417571	2	1	145	1	0	0	0	0	0	0	0	1	10219	1078	38	1		1	NANOS2	19	46417571	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	323429	46417571	12711412	139	34555											
ZNF350	59348	broad.mit.edu	37	chr19	52469393	52469393	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attttcaaatgcatcatgttCatgacatggtttccttctgt	6	8	4	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:52469393C>A	ENST00000243644.4	-	5	540	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	105					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GCATCATGTTCATGACATGGT	0.363													False	0	False	19:52469393	0	A	52469393	C	A	52469393	4	1	145	1	0	0	0	0	0	1	0	0	17946	835	29	3	1289	3	ZNF350	19	52469393	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	6051822	52469393	6659590	140	34556											
PPP2R1A	5518	broad.mit.edu	37	chr19	52714630	52714630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggaggcgcactttgtgCcgctagtgaagcggctggcg	16	11	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:52714630C>T	ENST00000322088.6	+	4	446	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P75S|PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	130	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.			P -> A (in Ref. 1; AAA35531).	ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GCACTTTGTGCCGCTAGTGAA	0.657			Mis		clear cell ovarian carcinoma								False	0	False	19:52714630	0	T	52714630	C	T	52714630	3	4	145	1	0	0	0	0	1	0	0	0	12456	739	26	2	402	2	PPP2R1A	19	52714630	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	245237	52714630	6414353	141	34557											
NCOA6	23054	broad.mit.edu	37	chr20	33337236	33337236	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgactatttttcttcttcCgagggggtttcttcttcttc	8	10	5	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:33337236C>A	ENST00000374796.2	-	10	5332	c.2762G>T	c.(2761-2763)cGg>cTg	p.R921L	NCOA6_ENST00000359003.2_Missense_Mutation_p.R921L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	921	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTTCTTCTTCCGAGGGGGTTT	0.358													False	0	True	20:33337236	0	A	33337236	C	A	33337236	3	1	145	1	0	0	0	0	1	0	0	0	10301	652	23	3	3457	3	NCOA6	20	33337236	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08		33337236	29688284	142	34558											
ZHX3	23051	broad.mit.edu	37	chr20	39832133	39832133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgaggagcgactgggccGcattgaccaccttcacagct	12	14	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:39832133G>A	ENST00000309060.3	-	4	1839	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	ZHX3_ENST00000540170.1_Missense_Mutation_p.A475V|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.A475V|ZHX3_ENST00000544979.2_Missense_Mutation_p.A475V|ZHX3_ENST00000432768.2_Missense_Mutation_p.A475V|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.A475V			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	475	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A475V(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CGACTGGGCCGCATTGACCAC	0.537													False	0	False	20:39832133	0	A	39832133	G	A	39832133	3	1	145	1	0	0	0	0	1	0	0	0	17760	1087	38	1	1454	1	ZHX3	20	39832133	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	6494897	39832133	23193387	143	34559											
CHD6	0	broad.mit.edu	37	chr20	40033309	40033309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctctctctgcgggcaaaGgggcactgggttcggcacag	15	11	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:40033309G>A	ENST00000373233.3	-	37	8249	c.8072C>T	c.(8071-8073)cCt>cTt	p.P2691L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2691					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGCGGGCAAAGGGGCACTGGG	0.537													False	0	True	20:40033309	0	A	40033309	G	A	40033309	3	1	145	1	0	0	0	0	1	0	0	0	3352	1000	35	2	79	2	CHD6	20	40033309	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	201176	40033309	22992211	144	34560											
DIDO1	11083	broad.mit.edu	37	chr20	61538515	61538515	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgagcaccgcatttcGgaagactgggcttctctggc	11	13	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:61538515G>T	ENST00000266070.4	-	5	1683	c.1358C>A	c.(1357-1359)cCg>cAg	p.P453Q	DIDO1_ENST00000395340.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370371.4_Missense_Mutation_p.P453Q|DIDO1_ENST00000266071.5_Missense_Mutation_p.P453Q|DIDO1_ENST00000370368.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.P453Q|DIDO1_ENST00000354665.4_Missense_Mutation_p.P453Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370366.1_Missense_Mutation_p.P453Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	453					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.P453L(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACCGCATTTCGGAAGACTGGG	0.527													False	0	False	20:61538515	0	T	61538515	G	T	61538515	3	4	145	1	0	0	0	0	1	0	0	0	4552	1116	39	3	5542	3	DIDO1	20	61538515	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	21505206	61538515	1487005	145	34561											
CCT8L2	150160	broad.mit.edu	37	chr22	17072527	17072527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccatacttgtccgccagtGtgagggtctcctcgtcgacc	11	14	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:17072527G>T	ENST00000359963.3	-	1	1173	c.914C>A	c.(913-915)aCa>aAa	p.T305K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	305					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCCGCCAGTGTGAGGGTCTC	0.517													False	0	False	22:17072527	0	T	17072527	G	T	17072527	3	4	145	1	0	0	0	0	1	0	0	0	2984	1377	48	3	763	3	CCT8L2	22	17072527	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		17072527	34232039	146	34562											
DGCR2	9993	broad.mit.edu	37	chr22	19035956	19035956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatcaagagtctcacctgGgtccagacacatgaacttgc	8	13	2	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:19035956G>A	ENST00000263196.7	-	7	1250	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	DGCR2_ENST00000537045.1_Missense_Mutation_p.P294S|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	335					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GTCTCACCTGGGTCCAGACAC	0.587													False	0	True	22:19035956	0	A	19035956	G	A	19035956	3	1	145	1	0	0	0	0	1	0	0	0	4491	1232	43	2	665	2	DGCR2	22	19035956	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	1963429	19035956	32268610	147	34563											
GNB1L	0	broad.mit.edu	37	chr22	19794255	19794255	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcgcacactgacgtcTtggagggcatctccagaatc	12	12	3	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:19794255T>A	ENST00000329517.6	-	6	679	c.443A>T	c.(442-444)aAg>aTg	p.K148M	GNB1L_ENST00000405009.1_Missense_Mutation_p.K148M|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.K148M	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	148					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CACTGACGTCTTGGAGGGCAT	0.572													False	0	False	22:19794255	0	A	19794255	T	A	19794255	3	1	145	1	0	0	0	0	1	0	0	0	6561	1609	56	5	552	5	GNB1L	22	19794255	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	758299	19794255	31510311	148	34564											
UQCR10	29796	broad.mit.edu	37	chr22	30163537	30163538	+	In_Frame_Ins	INS	-	-	AAGCTGTGGAAACACATCAAGCACAAGTAT													acgaccacatcaacgaggggINSgtgagggcctgtgccatccc							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:30163537_30163538insAAGCTGTGGAAACACATCAAGCACAAGTAT	ENST00000401406.3	+	1	175_176	c.150_151insAAGCTGTGGAAACACATCAAGCACAAGTAT	c.(151-153)gtg>AAGCTGTGGAAACACATCAAGCACAAGTATgtg	p.50_51insKLWKHIKHKY	UQCR10_ENST00000330029.6_Splice_Site_p.51_52insSCGNTSSTSM			Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	50					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						TCAACGAGGGGGTGAGGGCCTG	0.599													False	0	True	22:30163537	0	AAGCTGTGGAAACACATCAAGCACAAGTAT	30163538	-	AAGCTGTGGAAACACATCAAGCACAAGTAT	30163537	7	5	145	1	0	1	1	0	0	0	0	0	17100	1246	43	0	152	0	UQCR10	22	30163537	In_Frame_Ins	INS	-	TCGA-YY-A8LH-01A-11D-A36O-08	10369282	30163537	21141029	149	34565											
SGSM3	27352	broad.mit.edu	37	chr22	40797636	40797636	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggccctttctcagccctgaCtccgagcatatggccccagg	10	16	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:40797636C>G	ENST00000248929.9	+	3	236	c.47C>G	c.(46-48)aCt>aGt	p.T16S	SGSM3_ENST00000454798.2_Intron	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	16					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCAGCCCTGACTCCGAGCATA	0.567													False	0	False	22:40797636	0	G	40797636	C	G	40797636	3	3	145	1	0	0	0	0	1	0	0	0	14305	565	20	5	53	5	SGSM3	22	40797636	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	10634099	40797636	10506930	150	34566											
MAGEB6	158809	broad.mit.edu	37	chrX	26213024	26213024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaacagtgatcctccatGctatgagttcctgtggggtc	12	10	0	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:26213024G>A	ENST00000379034.1	+	2	1210	c.1061G>A	c.(1060-1062)tGc>tAc	p.C354Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	354	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GATCCTCCATGCTATGAGTTC	0.498													False	0	False	X:26213024	0	A	26213024	G	A	26213024	3	1	145	1	0	0	0	0	1	0	0	0	9246	1319	46	2	1063	2	MAGEB6	23	26213024	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		26213024	129057536	151	34567											
BCOR	54880	broad.mit.edu	37	chrX	39922163	39922163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcctggcaatcctcttcttCgtctgcacacagcacatctg	7	15	4	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:39922163C>T	ENST00000342274.4	-	9	4269	c.3907G>A	c.(3907-3909)Gaa>Aaa	p.E1303K	BCOR_ENST00000378455.4_Missense_Mutation_p.E1285K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1303K|BCOR_ENST00000378444.4_Missense_Mutation_p.E1337K|BCOR_ENST00000378463.1_Missense_Mutation_p.E180K	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1337					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCTCTTCTTCGTCTGCACAC	0.532			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						False	0	False	X:39922163	0	T	39922163	C	T	39922163	3	4	145	1	0	0	0	0	1	0	0	0	1390	893	31	1	1286	1	BCOR	23	39922163	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	13709139	39922163	115348397	152	34568											
ZXDB	158586	broad.mit.edu	37	chrX	57620752	57620752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactgacaccaaccaaagcGgagtggaacgtacatcctga	9	12	0	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:57620752G>A	ENST00000374888.1	+	1	2484	c.2271G>A	c.(2269-2271)gcG>gcA	p.A757A		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.A757A(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CAACCAAAGCGGAGTGGAACG	0.488													False	0	False	X:57620752	0	A	57620752	G	A	57620752	2	1	145	1	0	0	0	0	0	0	0	1	18333	1103	39	1		1	ZXDB	23	57620752	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	17698589	57620752	97649808	153	34569											
MAGEE2	139599	broad.mit.edu	37	chrX	75004797	75004797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgggggacccggaggcGttagtagcttgtatttcacc	16	8	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:75004797G>A	ENST00000373359.2	-	1	282	c.90C>T	c.(88-90)aaC>aaT	p.N30N		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	30								p.N30N(2)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCCGGAGGCGTTAGTAGCTT	0.577													False	0	False	X:75004797	0	A	75004797	G	A	75004797	2	1	145	1	0	0	0	0	0	0	0	1	9253	1136	40	1		1	MAGEE2	23	75004797	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	17384045	75004797	80265763	154	34570											
RPS6KA6	27330	broad.mit.edu	37	chrX	83362013	83362013	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctgaatcctttgaagagctGatgagcatttgcactggctg	12	8	0	5			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:83362013G>C	ENST00000262752.2	-	14	1154	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Q383E	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	383	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTGAAGAGCTGATGAGCATTT	0.343													False	0	False	X:83362013	0	C	83362013	G	C	83362013	3	2	145	1	0	0	0	0	1	0	0	0	13734	1299	45	5	1126	5	RPS6KA6	23	83362013	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	8357216	83362013	71908547	155	34571											
ACSL4	2182	broad.mit.edu	37	chrX	108906514	108906514	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacctttgtccattttcaTccacagaataatcttctgct	3	13	3	1	rs148996116		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:108906514T>C	ENST00000340800.2	-	14	2135	c.1631A>G	c.(1630-1632)gAt>gGt	p.D544G	ACSL4_ENST00000469796.2_Missense_Mutation_p.D544G|ACSL4_ENST00000348502.6_Missense_Mutation_p.D503G	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	544					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TCCATTTTCATCCACAGAATA	0.378													False	0	False	X:108906514	0	C	108906514	T	C	108906514	3	2	145	1	0	0	0	0	1	0	0	0	179	1435	50	4	520	4	ACSL4	23	108906514	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	25544501	108906514	46364046	156	34572											
CAPN6	827	broad.mit.edu	37	chrX	110494274	110494274	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cggccaaaaatagggttgttCacattgcggcagacattcag	11	9	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:110494274C>A	ENST00000324068.1	-	8	1196	c.1029G>T	c.(1027-1029)gtG>gtT	p.V343V	CAPN6_ENST00000541758.1_Silent_p.V88V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	343	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TAGGGTTGTTCACATTGCGGC	0.463													False	0	False	X:110494274	0	A	110494274	C	A	110494274	2	1	145	1	0	0	0	0	0	0	0	1	2650	813	29	3		3	CAPN6	23	110494274	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	1587760	110494274	44776286	157	34573											
ARHGAP36	158763	broad.mit.edu	37	chrX	130215846	130215846	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaagagactgcttaccaCgaactcgtggccagacattt	9	12	0	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:130215846C>A	ENST00000276211.5	+	2	552	c.207C>A	c.(205-207)caC>caA	p.H69Q	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.H57Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	69					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGCTTACCACGAACTCGTGG	0.577													False	0	False	X:130215846	0	A	130215846	C	A	130215846	3	1	145	1	0	0	0	0	1	0	0	0	885	535	19	3	209	3	ARHGAP36	23	130215846	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	19721572	130215846	25054714	158	34574											
GPC4	2239	broad.mit.edu	37	chrX	132445300	132445300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcacctatgaaattgttcCattcaaaatcgagatcccct	5	12	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:132445300C>A	ENST00000370828.3	-	4	1387	c.863G>T	c.(862-864)tGg>tTg	p.W288L	GPC4_ENST00000535467.1_Missense_Mutation_p.W218L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	288					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GAAATTGTTCCATTCAAAATC	0.443													False	0	False	X:132445300	0	A	132445300	C	A	132445300	3	1	145	1	0	0	0	0	1	0	0	0	6646	595	21	3	831	3	GPC4	23	132445300	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	2229454	132445300	22825260	159	34575											
FGF13	2258	broad.mit.edu	37	chrX	137793125	137793125	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctcgcgctcgcgggcttgcCtcttctgacggatgagcgag	14	13	3	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:137793125C>G	ENST00000315930.6	-	1	702	c.41G>C	c.(40-42)aGg>aCg	p.R14T	FGF13_ENST00000370603.3_Intron|FGF13_ENST00000541469.1_Intron|FGF13_ENST00000441825.2_Intron|FGF13_ENST00000305414.4_Intron	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	14					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCGGGCTTGCCTCTTCTGACG	0.597													False	0	False	X:137793125	0	G	137793125	C	G	137793125	3	3	145	1	0	0	0	0	1	0	0	0	5882	681	24	5	716	5	FGF13	23	137793125	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	5347825	137793125	17477435	160	34576											
MECP2	4204	broad.mit.edu	37	chrX	153296299	153296299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgctcttctcaccgaggGtggacaccagcaggggcttc	12	15	2	0	rs61751369		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:153296299G>A	ENST00000303391.6	-	4	1229	c.980C>T	c.(979-981)aCc>aTc	p.T327I	MECP2_ENST00000453960.2_Missense_Mutation_p.T339I	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	327					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	p.T327N(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCACCGAGGGTGGACACCAG	0.617													False	0	True	X:153296299	0	A	153296299	G	A	153296299	3	1	145	1	0	0	0	0	1	0	0	0	9490	1261	44	2	484	2	MECP2	23	153296299	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	15503174	153296299	1974261	161	34577											
BRCC3	79184	broad.mit.edu	37	chrX	154299824	154299825	+	Frame_Shift_Ins	INS	-	-	C													ggcggtgcaggtggtgcaggINScggtgcaggcggttcatctc							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:154299824_154299825insC	ENST00000369462.1	+	1	47_48	c.22_23insC	c.(22-24)gcgfs	p.A8fs	BRCC3_ENST00000340647.4_Frame_Shift_Ins_p.A8fs|BRCC3_ENST00000330045.7_Frame_Shift_Ins_p.A8fs|BRCC3_ENST00000369459.2_Frame_Shift_Ins_p.A8fs|BRCC3_ENST00000399042.1_Frame_Shift_Ins_p.A8fs|MTCP1_ENST00000362018.2_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	8					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ggtggtgcaggcggtgcaggcg	0.639													False	1	True	X:154299824	0	C	154299825	-	C	154299824	7	5	145	1	0	1	1	0	0	0	0	0	1507	1203	42	0	24	0	BRCC3	23	154299824	Frame_Shift_Ins	INS	-	TCGA-YY-A8LH-01A-11D-A36O-08	1003525	154299824	970736	162	34578											
VBP1	7411	broad.mit.edu	37	chrX	154464621	154464621	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaagaccttgactttcttCgagatcaatttactaccaca	6	10	2	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:154464621C>T	ENST00000286428.5	+	5	613	c.496C>T	c.(496-498)Cga>Tga	p.R166*	VBP1_ENST00000535916.1_Nonsense_Mutation_p.R161*|VBP1_ENST00000459836.1_3'UTR	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	166					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding	p.R166G(1)		NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGACTTTCTTCGAGATCAATT	0.353													False	0	False	X:154464621	0	T	154464621	C	T	154464621	4	4	145	1	0	0	0	0	0	1	0	0	17220	876	31	1	514	1	VBP1	23	154464621	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	164797	154464621	805939	163	34579											
C1QB	713	broad.mit.edu	37	chr1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-													ctgggaatccaggaaaagtcGgccccaagggccccatgggc					rs144323459	byFrequency	TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618													False	1	True	1:22987385	0	-	22987438	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	22987385	7	5	146	1	0	1	0	1	0	0	0	0	1970	1116	39	0	274	0	C1QB	1	22987385	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	TCGA-Z5-AAPL-01A-12D-A40W-08		22987385	226263236	1	34580											
C1orf173	127254	broad.mit.edu	37	chr1	75065538	75065538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactgcggtattccattcaTttgaacatcagcctgtcctt	7	11	2	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr1:75065538T>C	ENST00000326665.5	-	11	1785	c.1567A>G	c.(1567-1569)Atg>Gtg	p.M523V	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.M326V	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	523	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATTCCATTCATTTGAACATCA	0.388													False	0	True	1:75065538	0	C	75065538	T	C	75065538	3	2	146	1	0	0	0	0	1	0	0	0	2029	1493	52	4	3041	4	C1orf173	1	75065538	Missense_Mutation	SNP	T	TCGA-Z5-AAPL-01A-12D-A40W-08	52078153	75065538	174185083	2	34581											
FAM20B	9917	broad.mit.edu	37	chr1	179033482	179033482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatgctgtgaagaaaacGtccccttatgactctggccc	10	11	1	4			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr1:179033482G>A	ENST00000263733.4	+	6	1125	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	263						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						TGAAGAAAACGTCCCCTTATG	0.502													False	0	False	1:179033482	0	A	179033482	G	A	179033482	2	1	146	1	0	0	0	0	0	0	0	1	5574	1132	40	1		1	FAM20B	1	179033482	Silent	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	103967944	179033482	70217139	3	34582											
VWA3B	200403	broad.mit.edu	37	chr2	98736133	98736133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagtgctggattttggcgGcattctggagggggagcttg	17	6	1	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr2:98736133G>A	ENST00000477737.1	+	4	653	c.449G>A	c.(448-450)gGc>gAc	p.G150D	VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D|VWA3B_ENST00000451075.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	150										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GATTTTGGCGGCATTCTGGAG	0.522													False	0	False	2:98736133	0	A	98736133	G	A	98736133	3	1	146	1	0	0	0	0	1	0	0	0	17325	1203	42	2	459	2	VWA3B	2	98736133	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08		98736133	144463240	4	34583											
FAP	2191	broad.mit.edu	37	chr2	163075620	163075620	+	Frame_Shift_Del	DEL	C	C	-													taaatattttattttctcttCcattaaatgttatttgaaaa							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr2:163075620delC	ENST00000188790.4	-	8	767	c.560delG	c.(559-561)ggafs	p.G187fs	FAP_ENST00000443424.1_Frame_Shift_Del_p.G162fs	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	187					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATTTTCTCTTCCATTAAATGT	0.318													False	2	False	2:163075620	0	-	163075620	C	-	163075620	7	5	146	1	0	1	0	1	0	0	0	0	5713	855	30	0	1798	0	FAP	2	163075620	Frame_Shift_Del	DEL	C	TCGA-Z5-AAPL-01A-12D-A40W-08	64339487	163075620	80123753	5	34584											
TTLL4	9654	broad.mit.edu	37	chr2	219614735	219614735	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttatcctttttctgaagcctCcactccagctctccactgga	5	15	2	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr2:219614735C>A	ENST00000392102.1	+	15	3079	c.2739C>A	c.(2737-2739)ctC>ctA	p.L913L	TTLL4_ENST00000258398.4_Silent_p.L913L|TTLL4_ENST00000457313.1_Silent_p.L748L|TTLL4_ENST00000442769.1_Silent_p.L849L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	913	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCTGAAGCCTCCACTCCAGCT	0.468													False	0	True	2:219614735	0	A	219614735	C	A	219614735	2	1	146	1	0	0	0	0	0	0	0	1	16813	842	30	3		3	TTLL4	2	219614735	Silent	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	56539115	219614735	23584638	6	34585											
TGFBR2	7048	broad.mit.edu	37	chr3	30686349	30686350	+	Frame_Shift_Ins	INS	-	-	GC													caaccagaaatcctgcatgaINSgcaactgcagcatcacctcc							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr3:30686349_30686350insGC	ENST00000295754.5	+	2	587_588	c.205_206insGC	c.(205-207)agcfs	p.S69fs	TGFBR2_ENST00000359013.4_Frame_Shift_Ins_p.S94fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	69					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCCTGCATGAGCAACTGCAGC	0.431													False	1	False	3:30686349	0	GC	30686350	-	GC	30686349	7	5	146	1	0	1	1	0	0	0	0	0	15904	304	11	0	290	0	TGFBR2	3	30686349	Frame_Shift_Ins	INS	-	TCGA-Z5-AAPL-01A-12D-A40W-08		30686349	167336081	7	34586											
PBRM1	55193	broad.mit.edu	37	chr3	52637535	52637535	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaatgaaaagaaaccaAcctcttttttcttcttctcg	3	9	4	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr3:52637535A>G	ENST00000356770.4	-	16	2686		c.e16+1		PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAAGAAACCAACCTCTTTTTT	0.318			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								False	0	True	3:52637535	0	G	52637535	A	G	52637535	5	3	146	1	0	0	0	0	0	0	1	0	11559	57	2	4	2175	4	PBRM1	3	52637535	Splice_Site	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08	21951186	52637535	145384895	8	34587											
C4orf50	389197	broad.mit.edu	37	chr4	5969140	5969140	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcaaaaatcacactgaCctcttaaagctgccgtcatc	5	13	4	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr4:5969140C>A	ENST00000531445.1	-	5	1926		c.e5+1		C4orf50_ENST00000324058.5_Splice_Site			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ATCACACTGACCTCTTAAAGC	0.537													False	0	False	4:5969140	0	A	5969140	C	A	5969140	5	1	146	1	0	0	0	0	0	0	1	0	2293	521	18	3	384	3	C4orf50	4	5969140	Splice_Site	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		5969140	185185136	9	34588											
RAPGEF2	9693	broad.mit.edu	37	chr4	160266337	160266337	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaagcgggtacgtcgtAgttcctttctcaatgccaaa	8	9	1	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr4:160266337A>T	ENST00000264431.4	+	18	3294	c.2875A>T	c.(2875-2877)Agt>Tgt	p.S959C		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	959					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGTACGTCGTAGTTCCTTTCT	0.448													False	0	False	4:160266337	0	T	160266337	A	T	160266337	3	4	146	1	0	0	0	0	1	0	0	0	13123	420	15	5	2945	5	RAPGEF2	4	160266337	Missense_Mutation	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08	154297197	160266337	30887939	10	34589											
FAT1	2195	broad.mit.edu	37	chr4	187521297	187521297	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgacggatgtggccaCcaaaaaacacatagttatcc	8	12	0	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr4:187521297C>A	ENST00000441802.2	-	22	12067	c.11858G>T	c.(11857-11859)gGt>gTt	p.G3953V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3953	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATGTGGCCACCAAAAAACAC	0.488										HNSCC(5;0.00058)			False	0	False	4:187521297	0	A	187521297	C	A	187521297	3	1	146	1	0	0	0	0	1	0	0	0	5729	507	18	3	1932	3	FAT1	4	187521297	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	27254960	187521297	3632979	11	34590											
MEGF10	84466	broad.mit.edu	37	chr5	126732303	126732303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgtgcaaccccatcacCggggcttgccactgtgctgc	11	16	2	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr5:126732303C>T	ENST00000274473.6	+	7	759	c.492C>T	c.(490-492)acC>acT	p.T164T	MEGF10_ENST00000503335.2_Silent_p.T164T|MEGF10_ENST00000508365.1_Silent_p.T164T|MEGF10_ENST00000418761.2_Silent_p.T164T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	164	EGF-like 2.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACCCCATCACCGGGGCTTGCC	0.622													False	0	True	5:126732303	0	T	126732303	C	T	126732303	2	4	146	1	0	0	0	0	0	0	0	1	9527	639	23	1		1	MEGF10	5	126732303	Silent	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		126732303	54182957	12	34591											
PCDHA4	0	broad.mit.edu	37	chr5	140188738	140188738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactggtgaaggaccacggcGagcccgcgctgacggccacg	15	14	0	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr5:140188738G>A	ENST00000530339.1	+	1	1966	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	PCDHA4_ENST00000356878.4_Missense_Mutation_p.E656K|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E656K	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGGCGAGCCCGCGCT	0.682													False	0	False	5:140188738	0	A	140188738	G	A	140188738	3	1	146	1	0	0	0	0	1	0	0	0	11594	1059	37	1	1968	1	PCDHA4	5	140188738	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	13456435	140188738	40726522	13	34592											
PCDHGB6	0	broad.mit.edu	37	chr5	140788191	140788191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaaaggaaatacatttagAaattttcgaatctgcatccg	6	6	1	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr5:140788191A>G	ENST00000520790.1	+	1	422	c.422A>G	c.(421-423)gAa>gGa	p.E141G	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACATTTAGAAATTTTCGAA	0.363													False	0	True	5:140788191	0	G	140788191	A	G	140788191	3	3	146	1	0	0	0	0	1	0	0	0	11635	246	9	4	424	4	PCDHGB6	5	140788191	Missense_Mutation	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08	599453	140788191	40127069	14	34593											
SH3TC2	79628	broad.mit.edu	37	chr5	148407193	148407193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggaagagacatcccttggGcactctggataccatgttgc	11	10	1	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr5:148407193G>A	ENST00000538184.1	-	7	1631	c.743C>T	c.(742-744)gCc>gTc	p.A248V	SH3TC2_ENST00000515425.1_Missense_Mutation_p.A701V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A586V|SH3TC2_ENST00000512049.1_Missense_Mutation_p.A694V			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	701							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCTTGGGCACTCTGGAT	0.522													False	0	True	5:148407193	0	A	148407193	G	A	148407193	3	1	146	1	0	0	0	0	1	0	0	0	14343	1203	42	2	1792	2	SH3TC2	5	148407193	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	7619002	148407193	32508067	15	34594											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212	byFrequency	TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													False	1	False	6:7393450	0	-	7393452	GAC	-	7393450	7	5	146	1	0	1	0	1	0	0	0	0	13456	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-Z5-AAPL-01A-12D-A40W-08		7393450	163721617	16	34595											
MAP3K7	6885	broad.mit.edu	37	chr6	91281458	91281458	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcagattcactttctatttgTttaatagcaacatcttttgc	4	8	4	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr6:91281458T>A	ENST00000369329.3	-	2	350	c.189A>T	c.(187-189)aaA>aaT	p.K63N	MAP3K7_ENST00000369327.3_Missense_Mutation_p.K63N|MAP3K7_ENST00000369332.3_Missense_Mutation_p.K63N|MAP3K7_ENST00000369325.3_Missense_Mutation_p.K63N	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	63	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTCTATTTGTTTAATAGCAA	0.343													False	0	True	6:91281458	0	A	91281458	T	A	91281458	3	1	146	1	0	0	0	0	1	0	0	0	9322	1722	60	5	1695	5	MAP3K7	6	91281458	Missense_Mutation	SNP	T	TCGA-Z5-AAPL-01A-12D-A40W-08	83888008	91281458	79833609	17	34596											
GPR6	0	broad.mit.edu	37	chr6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-													tggtagtggcggccgaaggaGcggcggcggcggccacagca							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.					integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712													False	1	True	6:110300376	0	-	110300435	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	110300376	7	5	146	1	0	1	0	1	0	0	0	0	6747	971	34	0	63	0	GPR6	6	110300376	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	TCGA-Z5-AAPL-01A-12D-A40W-08	19018918	110300376	60814691	18	34597											
IYD	389434	broad.mit.edu	37	chr6	150719206	150719206	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagaatgcaggtctggtgActgtcactaccactcctctc	8	12	3	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr6:150719206A>G	ENST00000344419.3	+	5	843	c.703A>G	c.(703-705)Act>Gct	p.T235A	IYD_ENST00000392256.2_3'UTR|IYD_ENST00000229447.5_Missense_Mutation_p.D272G	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	235					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AGGTCTGGTGACTGTCACTAC	0.547													False	0	False	6:150719206	0	G	150719206	A	G	150719206	3	3	146	1	0	0	0	0	1	0	0	0	7982	275	10	4	898	4	IYD	6	150719206	Missense_Mutation	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08	40418830	150719206	20395861	19	34598											
SPDYE3	441272	broad.mit.edu	37	chr7	99913460	99913460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagatctgagggtgtcAgacaaggtaaggttgttctc	13	6	3	3			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522													False	0	False	7:99913460	0	G	99913460	A	G	99913460	2	3	146	1	0	0	0	0	0	0	0	1	15112	175	7	4		4	SPDYE3	7	99913460	Silent	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08		99913460	59225203	20	34599											
SLC26A5	375611	broad.mit.edu	37	chr7	103018207	103018230	+	In_Frame_Del	DEL	CTTCAGGCTTGGTAGCATCCTCTC	CTTCAGGCTTGGTAGCATCCTCTC	-													ttttacttcaccatcctcttCttcaggcttggtagcatcct					rs142849754	byFrequency	TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	CTTCAGGCTTGGTAGCATCCTCTC	CTTCAGGCTTGGTAGCATCCTCTC	-	-	CTTCAGGCTTGGTAGCATCCTCTC	CTTCAGGCTTGGTAGCATCCTCTC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr7:103018207_103018230delCTTCAGGCTTGGTAGCATCCTCTC	ENST00000306312.3	-	18	2063_2086	c.1802_1825delGAGAGGATGCTACCAAGCCTGAAG	c.(1801-1827)ggagaggatgctaccaagcctgaagaa>gaa	p.GEDATKPE601del	SLC26A5_ENST00000393730.1_In_Frame_Del_p.GEDATKPE569del|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_In_Frame_Del_p.GEDATKPE34del|SLC26A5_ENST00000339444.6_In_Frame_Del_p.GEDATKPE601del|SLC26A5_ENST00000393727.1_In_Frame_Del_p.GEDATKPE603del|SLC26A5_ENST00000393723.1_In_Frame_Del_p.GEDATKPE571del|SLC26A5_ENST00000432958.2_In_Frame_Del_p.GEDATKPE569del|SLC26A5_ENST00000393729.1_In_Frame_Del_p.GEDATKPE564del	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	601	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCATCCTCTTCTTCAGGCTTGGTAGCATCCTCTCCATCTACTTC	0.397													False	1	False	7:103018207	0	-	103018230	CTTCAGGCTTGGTAGCATCCTCTC	-	103018207	7	5	146	1	0	1	0	1	0	0	0	0	14600	922	32	0	462	0	SLC26A5	7	103018207	In_Frame_Del	DEL	CTTCAGGCTTGGTAGCATCCTCTC	TCGA-Z5-AAPL-01A-12D-A40W-08	3104747	103018207	56120456	21	34600											
HBP1	26959	broad.mit.edu	37	chr7	106826346	106826346	+	Missense_Mutation	SNP	C	C	A													agagtgaaccagccttccctCatcaccattggaaggaggaa							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr7:106826346C>A	ENST00000222574.4	+	4	685	c.499C>A	c.(499-501)Cat>Aat	p.H167N	HBP1_ENST00000468410.1_Missense_Mutation_p.H167N|HBP1_ENST00000485846.1_Missense_Mutation_p.H167N	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	167					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						AGCCTTCCCTCATCACCATTG	0.413													False	0	False	7:106826346	0	A	106826346	C	A	106826346	3	1	146	1	0	0	0	0	1	0	0	0	7032	826	29	3	509	3	HBP1	7	106826346	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	3808139	106826346	52312317	22	34601	392	2									
HBP1	26959	broad.mit.edu	37	chr7	106826349	106826349	+	Missense_Mutation	SNP	C	C	T													gtgaaccagccttccctcatCaccattggaaggaggaaaca							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr7:106826349C>T	ENST00000222574.4	+	4	688	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	HBP1_ENST00000468410.1_Missense_Mutation_p.H168Y|HBP1_ENST00000485846.1_Missense_Mutation_p.H168Y	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	168					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CTTCCCTCATCACCATTGGAA	0.413													False	0	False	7:106826349	0	T	106826349	C	T	106826349	3	4	146	1	0	0	0	0	1	0	0	0	7032	826	29	2	512	2	HBP1	7	106826349	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	3	106826349	52312314	23	34602	392	2									
HBP1	26959	broad.mit.edu	37	chr7	106826825	106826825	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcaaatagtgagtcagaatCtggcattttctgcatgtcct	10	8	3	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr7:106826825C>G	ENST00000222574.4	+	5	746	c.560C>G	c.(559-561)tCt>tGt	p.S187C	HBP1_ENST00000468410.1_Missense_Mutation_p.S187C|HBP1_ENST00000485846.1_Missense_Mutation_p.S187C	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	187					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GAGTCAGAATCTGGCATTTTC	0.353													False	0	False	7:106826825	0	G	106826825	C	G	106826825	3	3	146	1	0	0	0	0	1	0	0	0	7032	913	32	5	574	5	HBP1	7	106826825	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	476	106826825	52311838	24	34603											
PRSS55	203074	broad.mit.edu	37	chr8	10389055	10389055	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggggccagaccaatgctGgtatgtgactgctcagcttc	13	10	1	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:10389055G>A	ENST00000328655.3	+	3	638	c.598G>A	c.(598-600)Gct>Act	p.A200T	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Splice_Site_p.A200T	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	200	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GACCAATGCTGGTATGTGACT	0.597													False	0	False	8:10389055	0	A	10389055	G	A	10389055	5	1	146	1	0	0	0	0	0	0	1	0	12710	1362	47	2	608	2	PRSS55	8	10389055	Splice_Site	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08		10389055	135974967	25	34604											
PCM1	5108	broad.mit.edu	37	chr8	17829972	17829972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatctacaagtagtaaccGcaaaaatcaattagatacaa	4	7	2	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:17829972G>A	ENST00000325083.8	+	23	4158	c.3719G>A	c.(3718-3720)cGc>cAc	p.R1240H	PCM1_ENST00000524226.1_Missense_Mutation_p.R1241H|PCM1_ENST00000519253.1_Missense_Mutation_p.R1240H	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1240					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTAGTAACCGCAAAAATCAA	0.383			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								False	0	False	8:17829972	0	A	17829972	G	A	17829972	3	1	146	1	0	0	0	0	1	0	0	0	11652	1087	38	1	3801	1	PCM1	8	17829972	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	7440917	17829972	128534050	26	34605											
ERLIN2	11160	broad.mit.edu	37	chr8	37611540	37611540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgttcatggactctgcGggcagtgtgagcaagcagtt	13	8	2	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:37611540G>A	ENST00000276461.5	+	12	994	c.927G>A	c.(925-927)gcG>gcA	p.A309A	ERLIN2_ENST00000519638.1_Silent_p.A309A	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	309	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGACTCTGCGGGCAGTGTGA	0.458													False	0	True	8:37611540	0	A	37611540	G	A	37611540	2	1	146	1	0	0	0	0	0	0	0	1	5265	1103	39	1		1	ERLIN2	8	37611540	Silent	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	19781568	37611540	108752482	27	34606											
TTPA	7274	broad.mit.edu	37	chr8	63978492	63978492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcaatcttcttggctaCggatggagtgatttgaaaag	12	6	2	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:63978492C>T	ENST00000260116.4	-	3	554	c.523G>A	c.(523-525)Gta>Ata	p.V175I	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	175	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TTCTTGGCTACGGATGGAGTG	0.363													False	0	False	8:63978492	0	T	63978492	C	T	63978492	3	4	146	1	0	0	0	0	1	0	0	0	16820	536	19	1	325	1	TTPA	8	63978492	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	26366952	63978492	82385530	28	34607											
LRRCC1	85444	broad.mit.edu	37	chr8	86027758	86027758	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaataatcatgaaaacgAtttgcagaatgagataaaac	7	4	1	3			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:86027758A>T	ENST00000414626.2	+	5	1698	c.809A>T	c.(808-810)gAt>gTt	p.D270V	LRRCC1_ENST00000360375.3_Missense_Mutation_p.D290V			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	290					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CATGAAAACGATTTGCAGAAT	0.343													False	0	True	8:86027758	0	T	86027758	A	T	86027758	3	4	146	1	0	0	0	0	1	0	0	0	9088	333	12	5	891	5	LRRCC1	8	86027758	Missense_Mutation	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08	22049266	86027758	60336264	29	34608											
RIMS2	9699	broad.mit.edu	37	chr8	104898176	104898176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatagaccagacttgaggcGtactgactcactacggaaac	10	10	1	5			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:104898176G>A	ENST00000507740.1	+	2	1009	c.773G>A	c.(772-774)cGt>cAt	p.R258H	RIMS2_ENST00000262231.10_Missense_Mutation_p.R258H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R450H|RIMS2_ENST00000436393.2_Missense_Mutation_p.R228H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	481					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACTTGAGGCGTACTGACTCA	0.463										HNSCC(12;0.0054)			False	0	False	8:104898176	0	A	104898176	G	A	104898176	3	1	146	1	0	0	0	0	1	0	0	0	13447	1145	40	1	1489	1	RIMS2	8	104898176	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	18870418	104898176	41465846	30	34609											
KCNQ3	3786	broad.mit.edu	37	chr8	133141614	133141614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggggtccgtgtctgtgtcCgtctcaccctcggcgaggta	14	12	2	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:133141614C>T	ENST00000388996.4	-	15	2934	c.2514G>A	c.(2512-2514)acG>acA	p.T838T	KCNQ3_ENST00000521134.1_Silent_p.T718T|KCNQ3_ENST00000519445.1_Silent_p.T826T	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	838					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTCTGTGTCCGTCTCACCCT	0.592													False	0	False	8:133141614	0	T	133141614	C	T	133141614	2	4	146	1	0	0	0	0	0	0	0	1	8134	639	23	1		1	KCNQ3	8	133141614	Silent	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	28243438	133141614	13222408	31	34610											
PARP10	84875	broad.mit.edu	37	chr8	145059362	145059362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatgcttggtagccctagGcccctgggtggacgggtggt	17	10	0	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:145059362G>A	ENST00000313028.7	-	5	902	c.808C>T	c.(808-810)Cct>Tct	p.P270S	PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.P282S|PARP10_ENST00000524918.1_Missense_Mutation_p.P270S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	270						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTAGCCCTAGGCCCCTGGGTG	0.652													False	0	True	8:145059362	0	A	145059362	G	A	145059362	3	1	146	1	0	0	0	0	1	0	0	0	11523	1203	42	2	2297	2	PARP10	8	145059362	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	11917748	145059362	1304660	32	34611											
VPS13A	23230	broad.mit.edu	37	chr9	79996923	79996923	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgaagtggagagtctgCgacctcctcggttcttcaat	10	11	4	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr9:79996923C>T	ENST00000360280.3	+	68	9369	c.9109C>T	c.(9109-9111)Cga>Tga	p.R3037*	VPS13A_ENST00000357409.5_Nonsense_Mutation_p.R3037*|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.R2998*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.R3037*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3037					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAGAGTCTGCGACCTCCTCG	0.343													False	0	False	9:79996923	0	T	79996923	C	T	79996923	4	4	146	1	0	0	0	0	0	1	0	0	17273	760	27	1	9379	1	VPS13A	9	79996923	Nonsense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		79996923	61216508	33	34612											
OR13C4	138804	broad.mit.edu	37	chr9	107288998	107288998	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcccacagaaaggccatcGcatggcaagtgatgtttgca	11	10	0	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr9:107288998G>A	ENST00000277216.3	-	1	492	c.493C>T	c.(493-495)Cga>Tga	p.R165*		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AAAGGCCATCGCATGGCAAGT	0.383													False	0	False	9:107288998	0	A	107288998	G	A	107288998	4	1	146	1	0	0	0	0	0	1	0	0	11004	1095	38	1	465	1	OR13C4	9	107288998	Nonsense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	27292075	107288998	33924433	34	34613											
CRB2	286204	broad.mit.edu	37	chr9	126133548	126133548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcggatccgggctgaggtGccgggcagtcctgctgtagt	18	10	0	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr9:126133548G>A	ENST00000373631.3	+	8	2128	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V	CRB2_ENST00000373629.2_Silent_p.V377V|CRB2_ENST00000359999.3_Silent_p.V709V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	709	Laminin G-like 2.		V -> A (in dbSNP:rs2488602).			extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGGCTGAGGTGCCGGGCAGTC	0.647													False	0	False	9:126133548	0	A	126133548	G	A	126133548	2	1	146	1	0	0	0	0	0	0	0	1	3872	1306	46	2		2	CRB2	9	126133548	Silent	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	18844550	126133548	15079883	35	34614											
DNA2	1763	broad.mit.edu	37	chr10	70176584	70176584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggttatagcaacattaagaCgtcgccaatctttcaagagt	8	8	2	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr10:70176584C>A	ENST00000399180.2	-	20	3253	c.3254G>T	c.(3253-3255)cGt>cTt	p.R1085L	DNA2_ENST00000358410.3_Missense_Mutation_p.R999L|DNA2_ENST00000399179.2_Missense_Mutation_p.R761L			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	999					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AACATTAAGACGTCGCCAATC	0.368													False	0	False	10:70176584	0	A	70176584	C	A	70176584	3	1	146	1	0	0	0	0	1	0	0	0	4626	536	19	3	194	3	DNA2	10	70176584	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		70176584	65358163	36	34615											
KCNMA1	3778	broad.mit.edu	37	chr10	78787582	78787582	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcaccgcaaacttaccGgctctctcggttggcagact	11	13	2	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr10:78787582G>A	ENST00000286627.5	-	16	2879	c.1927C>T	c.(1927-1929)Cgt>Tgt	p.R643C	KCNMA1_ENST00000404771.3_Splice_Site_p.R643C|KCNMA1_ENST00000406533.3_Splice_Site_p.R643C|KCNMA1_ENST00000404857.1_Splice_Site_p.R643C|KCNMA1_ENST00000372443.1_Splice_Site_p.R643C|KCNMA1_ENST00000372440.1_Splice_Site_p.R643C|KCNMA1_ENST00000354353.5_Splice_Site_p.R643C|KCNMA1_ENST00000286628.8_Splice_Site_p.R643C	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	643					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CAAACTTACCGGCTCTCTCGG	0.483													False	0	False	10:78787582	0	A	78787582	G	A	78787582	5	1	146	1	0	0	0	0	0	0	1	0	8123	1130	39	1	2007	1	KCNMA1	10	78787582	Splice_Site	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	8610998	78787582	56747165	37	34616											
DMBT1	1755	broad.mit.edu	37	chr10	124356572	124356573	+	Splice_Site	INS	-	-	GA													ggtcgacgcccagtccaggtINSgagtccccagtgtccttcct							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr10:124356572_124356573insGA	ENST00000338354.3	+	24	3023		c.e24+2		DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1						epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGTCCAGGTGAGTCCCCAGT	0.505													False	1	False	10:124356572	0	GA	124356573	-	GA	124356572	8	5	146	1	0	1	1	0	0	0	1	0	4607	1710	59	0	3013	0	DMBT1	10	124356572	Splice_Site	INS	-	TCGA-Z5-AAPL-01A-12D-A40W-08	45568990	124356572	11178175	38	34617											
PAOX	196743	broad.mit.edu	37	chr10	135193525	135193525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtggtggaggtgggcgcGcactggatccatgggccctc	19	11	0	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr10:135193525G>A	ENST00000278060.5	+	2	287	c.204G>A	c.(202-204)gcG>gcA	p.A68A	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Silent_p.A68A|PAOX_ENST00000368539.4_Intron|PAOX_ENST00000357296.3_Silent_p.A68A	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	206					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		AGGTGGGCGCGCACTGGATCC	0.677													False	0	True	10:135193525	0	A	135193525	G	A	135193525	2	1	146	1	0	0	0	0	0	0	0	1	11491	1074	38	1		1	PAOX	10	135193525	Silent	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	10836953	135193525	341222	39	34618											
NAP1L4	4676	broad.mit.edu	37	chr11	2975837	2975837	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacggaaaaagtgtccaaTttcaaaatcagaggctaatg	8	8	3	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr11:2975837T>C	ENST00000380542.4	-	12	1095	c.955A>G	c.(955-957)Att>Gtt	p.I319V	NAP1L4_ENST00000526115.1_Missense_Mutation_p.I319V	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	319					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		AAGTGTCCAATTTCAAAATCA	0.448													False	0	True	11:2975837	0	C	2975837	T	C	2975837	3	2	146	1	0	0	0	0	1	0	0	0	10226	1493	52	4	188	4	NAP1L4	11	2975837	Missense_Mutation	SNP	T	TCGA-Z5-AAPL-01A-12D-A40W-08		2975837	132030679	40	34619											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	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	0.348	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)			False	0	False	12:25398284	0	A	25398284	C	A	25398284	3	1	146	1	0	0	0	0	1	0	0	0	8488	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		25398284	108453611	41	34620											
CSRNP2	81566	broad.mit.edu	37	chr12	51461619	51461619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcagggcccgtcgcCgtttggtgggcagaggctgc	16	14	1	1	rs148149139		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr12:51461619C>T	ENST00000228515.1	-	4	842	c.545G>A	c.(544-546)cGg>cAg	p.R182Q		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	182					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GGCCCGTCGCCGTTTGGTGGG	0.537													False	0	False	12:51461619	0	T	51461619	C	T	51461619	3	4	146	1	0	0	0	0	1	0	0	0	3989	652	23	1	1094	1	CSRNP2	12	51461619	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	26063335	51461619	82390276	42	34621											
PTPRB	0	broad.mit.edu	37	chr12	70964902	70964902	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgttagggaagtaaatcGatactcggttgcggtattta	13	4	0	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr12:70964902G>A	ENST00000334414.6	-	13	3318	c.3274C>T	c.(3274-3276)Cga>Tga	p.R1092*	PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R1091*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R1004*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.R874*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R874*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R784*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R784*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	874	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAAGTAAATCGATACTCGGTT	0.453													False	0	False	12:70964902	0	A	70964902	G	A	70964902	4	1	146	1	0	0	0	0	0	1	0	0	12875	1066	37	1	3461	1	PTPRB	12	70964902	Nonsense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	19503283	70964902	62886993	43	34622											
FNDC3A	22862	broad.mit.edu	37	chr13	49781232	49781232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagatttacaagggtcccGactcttccttccggtattcc	7	13	1	1	rs142361918	byFrequency	TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr13:49781232G>A	ENST00000492622.2	+	26	3603	c.3298G>A	c.(3298-3300)Gac>Aac	p.D1100N	FNDC3A_ENST00000541916.1_Missense_Mutation_p.D1100N|FNDC3A_ENST00000398316.3_Missense_Mutation_p.D1044N	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1100	Fibronectin type-III 9.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CAAGGGTCCCGACTCTTCCTT	0.438													False	0	True	13:49781232	0	A	49781232	G	A	49781232	3	1	146	1	0	0	0	0	1	0	0	0	6009	1058	37	1	3407	1	FNDC3A	13	49781232	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08		49781232	65388646	44	34623											
ACSBG1	23205	broad.mit.edu	37	chr15	78474328	78474328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccttcagggcgtcgggttCggcaaagcaaacctgggccc	14	13	1	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr15:78474328C>T	ENST00000258873.4	-	8	1259	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E110K|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E110K	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	352					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCGTCGGGTTCGGCAAAGCAA	0.617													False	0	False	15:78474328	0	T	78474328	C	T	78474328	3	4	146	1	0	0	0	0	1	0	0	0	173	893	31	1	1148	1	ACSBG1	15	78474328	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		78474328	24057064	45	34624											
ZZEF1	23140	broad.mit.edu	37	chr17	3924509	3924509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagggctgctgactggccGttccacctcttcctctcggt	11	16	2	1	rs146431554	byFrequency	TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:3924509G>A	ENST00000381638.2	-	45	7442	c.7318C>T	c.(7318-7320)Cgg>Tgg	p.R2440W		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2440							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGACTGGCCGTTCCACCTCT	0.557													False	0	False	17:3924509	0	A	3924509	G	A	3924509	3	1	146	1	0	0	0	0	1	0	0	0	18337	1144	40	1	1611	1	ZZEF1	17	3924509	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08		3924509	77270701	46	34625											
TP53	7157	broad.mit.edu	37	chr17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccatgcaggaactgtTacacatgtagttgtagtgga	12	9	0	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:7577566T>C	ENST00000420246.2	-	7	847	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGAACTGTTACACATGTAG	0.572		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)			False	0	False	17:7577566	0	C	7577566	T	C	7577566	3	2	146	1	0	0	0	0	1	0	0	0	16464	1754	61	4	575	4	TP53	17	7577566	Missense_Mutation	SNP	T	TCGA-Z5-AAPL-01A-12D-A40W-08	3653057	7577566	73617644	47	34626											
DNAH9	1770	broad.mit.edu	37	chr17	11687719	11687719	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagctcggaaacttcccgGcgtccctgcagaaatccatc	9	14	0	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:11687719G>T	ENST00000262442.4	+	41	7992	c.7924G>T	c.(7924-7926)Gcg>Tcg	p.A2642S	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2642S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAACTTCCCGGCGTCCCTGCA	0.542													False	0	False	17:11687719	0	T	11687719	G	T	11687719	3	4	146	1	0	0	0	0	1	0	0	0	4638	1203	42	3	8086	3	DNAH9	17	11687719	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	4110153	11687719	69507491	48	34627											
KRT26	353288	broad.mit.edu	37	chr17	38926606	38926606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagttcatccaacactctgcGaagaccactggtgtcggcct	9	14	2	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:38926606G>A	ENST00000335552.4	-	3	628	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	194	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AACACTCTGCGAAGACCACTG	0.488													False	0	False	17:38926606	0	A	38926606	G	A	38926606	3	1	146	1	0	0	0	0	1	0	0	0	8513	1058	37	1	850	1	KRT26	17	38926606	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	27238887	38926606	42268604	49	34628											
PTRF	284119	broad.mit.edu	37	chr17	40557306	40557306	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgcgtcctcctcgggcCgctcgccctcgcccagctcc	10	23	0	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:40557306C>G	ENST00000357037.5	-	2	991	c.572G>C	c.(571-573)cGg>cCg	p.R191P		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	191					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTCCTCGGGCCGCTCGCCCTC	0.642													False	0	False	17:40557306	0	G	40557306	C	G	40557306	3	3	146	1	0	0	0	0	1	0	0	0	12894	652	23	5	604	5	PTRF	17	40557306	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	1630700	40557306	40637904	50	34629											
LRRC30	339291	broad.mit.edu	37	chr18	7231720	7231720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattttcttgcacgtgggctCgaatcgcctggaaaacatcg	11	10	1	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr18:7231720C>T	ENST00000383467.2	+	1	598	c.584C>T	c.(583-585)tCg>tTg	p.S195L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	195										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CACGTGGGCTCGAATCGCCTG	0.537													False	0	False	18:7231720	0	T	7231720	C	T	7231720	3	4	146	1	0	0	0	0	1	0	0	0	9047	893	31	1	586	1	LRRC30	18	7231720	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		7231720	70845528	51	34630											
DTNA	1837	broad.mit.edu	37	chr18	32374135	32374135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttttaccagctcaacaaaCggatgccaaccactcaccaa	4	14	2	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr18:32374135C>T	ENST00000283365.9	+	5	634	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269190.7_Missense_Mutation_p.R95W|DTNA_ENST00000444659.1_Missense_Mutation_p.R95W|DTNA_ENST00000598334.1_Missense_Mutation_p.R95W|DTNA_ENST00000348997.5_Missense_Mutation_p.R95W|DTNA_ENST00000598774.1_Missense_Mutation_p.R95W|DTNA_ENST00000269191.6_Missense_Mutation_p.R95W|DTNA_ENST00000399113.3_Missense_Mutation_p.R95W|DTNA_ENST00000596745.1_Missense_Mutation_p.R95W|DTNA_ENST00000597599.1_Missense_Mutation_p.R95W|DTNA_ENST00000399121.5_Missense_Mutation_p.R95W|DTNA_ENST00000315456.6_Missense_Mutation_p.R95W|DTNA_ENST00000598142.1_Missense_Mutation_p.R95W|DTNA_ENST00000595022.1_Missense_Mutation_p.R95W|DTNA_ENST00000554864.3_Missense_Mutation_p.R95W	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	95	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCTCAACAAACGGATGCCAAC	0.498													False	0	True	18:32374135	0	T	32374135	C	T	32374135	3	4	146	1	0	0	0	0	1	0	0	0	4818	527	19	1	293	1	DTNA	18	32374135	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	25142415	32374135	45703113	52	34631											
EMR1	2015	broad.mit.edu	37	chr19	6896543	6896543	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcaaggatccaggagtgCgatgcaaaggtgagttcatg	13	7	2	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr19:6896543C>T	ENST00000312053.4	+	3	266	c.229C>T	c.(229-231)Cga>Tga	p.R77*	EMR1_ENST00000381404.4_Nonsense_Mutation_p.R77*|EMR1_ENST00000450315.3_Nonsense_Mutation_p.R77*|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381407.5_Nonsense_Mutation_p.R77*|EMR1_ENST00000250572.8_Nonsense_Mutation_p.R77*	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	77	EGF-like 1.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCAGGAGTGCGATGCAAAGG	0.488													False	0	False	19:6896543	0	T	6896543	C	T	6896543	4	4	146	1	0	0	0	0	0	1	0	0	5136	760	27	1	239	1	EMR1	19	6896543	Nonsense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		6896543	52232440	53	34632											
MCOLN1	57192	broad.mit.edu	37	chr19	7594053	7594053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctggtgtgggtgggcGtgatccgctacctgaccttc	15	12	0	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr19:7594053G>A	ENST00000264079.6	+	10	1326	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	401					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGGGTGGGCGTGATCCGCTA	0.572													False	0	False	19:7594053	0	A	7594053	G	A	7594053	3	1	146	1	0	0	0	0	1	0	0	0	9462	1145	40	1	1239	1	MCOLN1	19	7594053	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	697510	7594053	51534930	54	34633											
LDLR	3949	broad.mit.edu	37	chr19	11226801	11226801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactgactggggaactcccGccaagatcaagaaagggggc	15	10	1	3			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr19:11226801G>A	ENST00000558518.1	+	11	1805	c.1618G>A	c.(1618-1620)Gcc>Acc	p.A540T	LDLR_ENST00000455727.2_Missense_Mutation_p.A372T|LDLR_ENST00000535915.1_Missense_Mutation_p.A499T|LDLR_ENST00000558013.1_Missense_Mutation_p.A540T|LDLR_ENST00000545707.1_Missense_Mutation_p.A413T|LDLR_ENST00000557933.1_Missense_Mutation_p.A540T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	540					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GGGAACTCCCGCCAAGATCAA	0.567													False	0	True	19:11226801	0	A	11226801	G	A	11226801	3	1	146	1	0	0	0	0	1	0	0	0	8755	1087	38	1	1660	1	LDLR	19	11226801	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	3632748	11226801	47902182	55	34634											
RFX1	5989	broad.mit.edu	37	chr19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-													tgccgccgcctccggtgctgCcactgccacccccgccaccg							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71													False	1	False	19:14083667	0	-	14083711	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	14083667	7	5	146	1	0	1	0	1	0	0	0	0	13341	739	26	0	1789	0	RFX1	19	14083667	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	TCGA-Z5-AAPL-01A-12D-A40W-08	2856866	14083667	45045316	56	34635											
ZNF551	90233	broad.mit.edu	37	chr19	58198939	58198939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcttttagctgcaaatcGgaactcattcaacaccagag	6	10	3	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr19:58198939G>A	ENST00000282296.5	+	3	1481	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Silent_p.S416S			Q7Z340	ZN551_HUMAN	zinc finger protein 551	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTGCAAATCGGAACTCATTC	0.403													False	0	False	19:58198939	0	A	58198939	G	A	58198939	2	1	146	1	0	0	0	0	0	0	0	1	18066	1103	39	1		1	ZNF551	19	58198939	Silent	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	44115272	58198939	930044	57	34636											
DIDO1	11083	broad.mit.edu	37	chr20	61513415	61513415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcggtggaggaagctgccGtggaggctgccgctgctgtt	18	9	0	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr20:61513415G>A	ENST00000266070.4	-	16	4218	c.3893C>T	c.(3892-3894)aCg>aTg	p.T1298M	DIDO1_ENST00000395343.1_Missense_Mutation_p.T1298M	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1298					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGAAGCTGCCGTGGAGGCTGC	0.587													False	0	False	20:61513415	0	A	61513415	G	A	61513415	3	1	146	1	0	0	0	0	1	0	0	0	4552	1145	40	1	2833	1	DIDO1	20	61513415	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08		61513415	1512105	58	34637											
KRTAP11-1	0	broad.mit.edu	37	chr21	32253584	32253584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaaatacaggtagtttgtCgagagcaagtcacctggcaa	12	7	1	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr21:32253584C>T	ENST00000332378.4	-	1	290	c.260G>A	c.(259-261)cGa>cAa	p.R87Q		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	87						keratin filament	structural molecule activity	p.R87P(3)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GGTAGTTTGTCGAGAGCAAGT	0.562													False	0	False	21:32253584	0	T	32253584	C	T	32253584	3	4	146	1	0	0	0	0	1	0	0	0	8567	884	31	1	235	1	KRTAP11-1	21	32253584	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		32253584	15876311	59	34638											
SPIN2B	474343	broad.mit.edu	37	chrX	57146293	57146293	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaccctaacagttaggacTttttcaccaaatcgtagaca	5	10	1	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chrX:57146293T>G	ENST00000333933.3	-	2	1080	c.770A>C	c.(769-771)aAg>aCg	p.K257T	SPIN2B_ENST00000460948.1_Intron|SPIN2B_ENST00000275988.5_Missense_Mutation_p.K257T|SPIN2B_ENST00000374912.5_Missense_Mutation_p.K257T|SPIN2B_ENST00000374910.3_Missense_Mutation_p.K156T	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	257					apoptosis|cell cycle|gamete generation	nucleus				endometrium(3)|large_intestine(1)|skin(1)	5						CAGTTAGGACTTTTTCACCAA	0.368													False	0	True	X:57146293	0	G	57146293	T	G	57146293	3	3	146	1	0	0	0	0	1	0	0	0	15136	1609	56	4	10	4	SPIN2B	23	57146293	Missense_Mutation	SNP	T	TCGA-Z5-AAPL-01A-12D-A40W-08		57146293	98124267	60	34639											
IRS4	8471	broad.mit.edu	37	chrX	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-													ctgctgctagagctgccgctGccgccgctgctgcacctctt					rs2073114	byFrequency	TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616													False	2	True	X:107979510	0	-	107979512	GCC	-	107979510	7	5	146	1	0	1	0	1	0	0	0	0	7892	1319	46	0	3712	0	IRS4	23	107979510	In_Frame_Del	DEL	GCC	TCGA-Z5-AAPL-01A-12D-A40W-08	50833217	107979510	47291050	61	34640											
CAPN6	827	broad.mit.edu	37	chrX	110494891	110494891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccaagacgaattttgCgaatatcagtcatggtatag	8	8	3	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chrX:110494891C>T	ENST00000324068.1	-	6	946	c.779G>A	c.(778-780)cGc>cAc	p.R260H	CAPN6_ENST00000541758.1_Missense_Mutation_p.R5H	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	260	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACGAATTTTGCGAATATCAGT	0.468													False	0	False	X:110494891	0	T	110494891	C	T	110494891	3	4	146	1	0	0	0	0	1	0	0	0	2650	768	27	1	1178	1	CAPN6	23	110494891	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	2515381	110494891	44775669	62	34641											
GPC3	2719	broad.mit.edu	37	chrX	132730547	132730547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcatcttcatcatcaccGcagtctccactttcaaaccc	2	18	7	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chrX:132730547G>A	ENST00000370818.3	-	7	1939	c.1494C>T	c.(1492-1494)tgC>tgT	p.C498C	GPC3_ENST00000543339.1_Silent_p.C444C|GPC3_ENST00000394299.2_Silent_p.C521C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	498						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CATCATCACCGCAGTCTCCAC	0.463			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				False	0	False	X:132730547	0	A	132730547	G	A	132730547	2	1	146	1	0	0	0	0	0	0	0	1	6645	1079	38	1		1	GPC3	23	132730547	Silent	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	22235656	132730547	22540013	63	34642											
